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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_TissueType	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_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
LRRC41	10489	broad.mit.edu	37	1	46751997	46751997	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr1:46751997C>T	ENST00000343304.6	-	4	817	c.532G>A	c.(532-534)Gag>Aag	p.E178K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	178					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.E178K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCCACCAGCTCGGTTGCACCC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											57	60	59					1																	46751997		2203	4300	6503	46524584	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.532G>A	1.37:g.46751997C>T	ENSP00000343298:p.Glu178Lys		46524584	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	CCDS533.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.926338	0.92319	.	.	ENSG00000132128	ENST00000343304;ENST00000371972;ENST00000254454	D	0.86432	-2.12	5.08	5.08	0.68730	.	0.151564	0.45126	D	0.000386	D	0.89849	0.6834	L	0.27053	0.805	0.42862	D	0.994113	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.987;0.996;0.987	D	0.91695	0.5369	10	0.87932	D	0	-20.5144	18.583	0.91178	0.0:1.0:0.0:0.0	.	178;156;178	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	K	178;156;7	ENSP00000343298:E178K	ENSP00000254454:E7K	E	-	1	0	LRRC41	46524584	0.998000	0.40836	0.999000	0.59377	0.987000	0.75469	4.986000	0.63851	2.389000	0.81357	0.430000	0.28490	GAG		0.592	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		T	46751997	C	T	46751997	3	4	1	1	0	0	0	0	1	0	0	0	8999	893	31	1	1934	1	LRRC41	1	46751997	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08		46751997	202498624	1	1											
C1orf173	127254	broad.mit.edu	37	1	75055494	75055494	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr1:75055494T>G	ENST00000326665.5	-	12	2215	c.1997A>C	c.(1996-1998)gAg>gCg	p.E666A	C1orf173_ENST00000420661.2_Missense_Mutation_p.E469A|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		666	Glu-rich.							p.E666A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAGAACATTCTCAAAGCTTTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											147	147	147					1																	75055494		2203	4300	6503	74828082	SO:0001583	missense	127254																														ENST00000326665.5:c.1997A>C	1.37:g.75055494T>G	ENSP00000322609:p.Glu666Ala		74828082	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929978	0.34096	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18338	2.68;2.22	5.35	-3.08	0.05347	.	.	.	.	.	T	0.04497	0.0123	L	0.48642	1.525	0.09310	N	1	B;P	0.46859	0.4;0.885	B;P	0.45753	0.121;0.492	T	0.20638	-1.0269	9	0.19590	T	0.45	-0.3347	1.22	0.01922	0.1272:0.246:0.2608:0.366	.	469;666	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	A	666;469	ENSP00000322609:E666A;ENSP00000398581:E469A	ENSP00000322609:E666A	E	-	2	0	C1orf173	74828082	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.797000	0.04570	-0.200000	0.10300	0.472000	0.43445	GAG		0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			G	75055494	T	G	75055494	3	3	1	1	0	0	0	0	1	0	0	0	2014	1551	54	5	2607	5	C1orf173	1	75055494	Missense_Mutation	SNP	T	TCGA-04-1331-01A-01W-0486-08	28303497	75055494	174195127	2	2											
SSX2IP	117178	broad.mit.edu	37	1	85128152	85128152	+	Silent	SNP	A	A	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr1:85128152A>G	ENST00000342203.3	-	7	998	c.735T>C	c.(733-735)ggT>ggC	p.G245G	SSX2IP_ENST00000370612.4_Silent_p.G245G|SSX2IP_ENST00000605755.1_Silent_p.G218G|SSX2IP_ENST00000437941.2_Silent_p.G218G|SSX2IP_ENST00000603677.1_Intron	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	245					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.G245G(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTCAGTTTTACCAGTCCTCC	0.363																																																1	Substitution - coding silent(1)	ovary(1)	1											99	105	103					1																	85128152		2203	4300	6503	84900740	SO:0001819	synonymous_variant	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.735T>C	1.37:g.85128152A>G			84900740	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Silent	SNP	ENST00000342203.3	37	CCDS699.1																																																																																				0.363	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		G	85128152	A	G	85128152	2	3	1	1	0	0	0	0	0	0	0	1	15206	378	14	4		4	SSX2IP	1	85128152	Silent	SNP	A	TCGA-04-1331-01A-01W-0486-08	10072658	85128152	164122469	3	3											
NTNG1	22854	broad.mit.edu	37	1	107866918	107866918	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr1:107866918G>A	ENST00000370068.1	+	3	1107	c.261G>A	c.(259-261)atG>atA	p.M87I	NTNG1_ENST00000370067.1_Missense_Mutation_p.M87I|NTNG1_ENST00000370070.2_Missense_Mutation_p.M87I|NTNG1_ENST00000370061.3_Missense_Mutation_p.M87I|NTNG1_ENST00000370072.3_Missense_Mutation_p.M87I|NTNG1_ENST00000542803.1_Missense_Mutation_p.M87I|NTNG1_ENST00000370066.1_Missense_Mutation_p.M87I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370071.2_Missense_Mutation_p.M87I|NTNG1_ENST00000370074.4_Missense_Mutation_p.M87I|NTNG1_ENST00000370065.1_Missense_Mutation_p.M87I|NTNG1_ENST00000370073.2_Missense_Mutation_p.M87I			Q9Y2I2	NTNG1_HUMAN	netrin G1	87	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.|NGL discriminant loop I.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.M87I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATCCCTACATGTGCAATAATG	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											256	260	259					1																	107866918		2203	4300	6503	107668441	SO:0001583	missense	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.261G>A	1.37:g.107866918G>A	ENSP00000359085:p.Met87Ile		107668441	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821003	0.71028	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	5.68	5.68	0.88126	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	L	0.40543	1.245	0.58432	D	0.999999	D;D;B;P;P	0.71674	0.982;0.998;0.294;0.929;0.455	D;D;P;D;B	0.83275	0.989;0.996;0.522;0.946;0.342	T	0.76130	-0.3072	10	0.38643	T	0.18	.	19.7998	0.96502	0.0:0.0:1.0:0.0	.	87;87;87;87;87	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	I	87	ENSP00000359090:M87I;ENSP00000359088:M87I;ENSP00000440561:M87I;ENSP00000359078:M87I;ENSP00000359089:M87I;ENSP00000359087:M87I;ENSP00000359091:M87I;ENSP00000359085:M87I;ENSP00000359084:M87I;ENSP00000359083:M87I;ENSP00000359082:M87I	ENSP00000294649:M87I	M	+	3	0	NTNG1	107668441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.876000	0.87215	2.683000	0.91414	0.655000	0.94253	ATG		0.478	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		A	107866918	G	A	107866918	3	1	1	1	0	0	0	0	1	0	0	0	10704	1377	48	2	267	2	NTNG1	1	107866918	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	22738766	107866918	141383703	4	4											
PGLYRP3	114771	broad.mit.edu	37	1	153274927	153274927	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr1:153274927G>T	ENST00000290722.1	-	5	738	c.686C>A	c.(685-687)tCc>tAc	p.S229Y		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	229					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.S229Y(1)|p.S229F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGTGAAAGGACTGTATGTT	0.458																																																2	Substitution - Missense(2)	ovary(1)|pancreas(1)	1											281	257	265					1																	153274927		2203	4300	6503	151541551	SO:0001583	missense	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.686C>A	1.37:g.153274927G>T	ENSP00000290722:p.Ser229Tyr		151541551	A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586553	0.46110	.	.	ENSG00000159527	ENST00000290722	T	0.18502	2.21	4.3	4.3	0.51218	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.230345	0.31071	N	0.008319	T	0.26557	0.0649	M	0.74647	2.275	0.35602	D	0.807928	D	0.63046	0.992	P	0.60949	0.881	T	0.05533	-1.0879	10	0.59425	D	0.04	-22.8123	12.1343	0.53961	0.0:0.0:1.0:0.0	.	229	Q96LB9	PGRP3_HUMAN	Y	229	ENSP00000290722:S229Y	ENSP00000290722:S229Y	S	-	2	0	PGLYRP3	151541551	0.989000	0.36119	0.858000	0.33744	0.824000	0.46624	2.670000	0.46833	2.230000	0.72887	0.655000	0.94253	TCC		0.458	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		T	153274927	G	T	153274927	3	4	1	1	0	0	0	0	1	0	0	0	11795	1174	41	3	351	3	PGLYRP3	1	153274927	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	45408009	153274927	95975694	5	5											
FBXO28	23219	broad.mit.edu	37	1	224321795	224321795	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr1:224321795A>T	ENST00000366862.5	+	3	440	c.397A>T	c.(397-399)Aac>Tac	p.N133Y	FBXO28_ENST00000424254.2_Missense_Mutation_p.N133Y	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	133								p.N133Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AGAAAGGAGAAACCATTCATT	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											65	57	60					1																	224321795		2203	4299	6502	222388418	SO:0001583	missense	23219			AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"F-boxes /  "other""	29046	protein-coding gene	gene with protein product	"centromere protein 30"	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.397A>T	1.37:g.224321795A>T	ENSP00000355827:p.Asn133Tyr		222388418	E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491949	0.84962	.	.	ENSG00000143756	ENST00000366862;ENST00000424254	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	T	0.78723	-0.2093	9	0.54805	T	0.06	-15.8636	14.9872	0.71356	1.0:0.0:0.0:0.0	.	133;133	E9PEM8;Q9NVF7	.;FBX28_HUMAN	Y	133	.	ENSP00000355827:N133Y	N	+	1	0	FBXO28	222388418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.953000	0.93041	2.120000	0.65058	0.455000	0.32223	AAC		0.343	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		T	224321795	A	T	224321795	3	4	1	1	0	0	0	0	1	0	0	0	5738	14	1	5	407	5	FBXO28	1	224321795	Missense_Mutation	SNP	A	TCGA-04-1331-01A-01W-0486-08	71046868	224321795	24928826	6	6											
OR2M2	391194	broad.mit.edu	37	1	248343719	248343719	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr1:248343719G>A	ENST00000359682.2	+	1	432	c.432G>A	c.(430-432)atG>atA	p.M144I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M144I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTGGACTTATGGCTACCTTCT	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											202	210	207					1																	248343719		2203	4300	6503	246410342	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.432G>A	1.37:g.248343719G>A	ENSP00000352710:p.Met144Ile		246410342	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	2.782	-0.253388	0.05829	.	.	ENSG00000198601	ENST00000359682	T	0.35605	1.3	1.7	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	0.466003	0.15537	U	0.257149	T	0.25717	0.0626	L	0.41961	1.31	0.09310	N	1	B	0.24092	0.097	B	0.27887	0.084	T	0.21143	-1.0254	10	0.31617	T	0.26	.	7.5709	0.27907	0.3628:0.0:0.6372:0.0	.	144	Q96R28	OR2M2_HUMAN	I	144	ENSP00000352710:M144I	ENSP00000352710:M144I	M	+	3	0	OR2M2	246410342	0.019000	0.18553	0.000000	0.03702	0.001000	0.01503	0.076000	0.14712	-0.392000	0.07751	-0.396000	0.06452	ATG		0.423	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		A	248343719	G	A	248343719	3	1	1	1	0	0	0	0	1	0	0	0	11010	1348	47	2	434	2	OR2M2	1	248343719	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	24021924	248343719	906902	7	7											
MAP4K3	8491	broad.mit.edu	37	2	39553363	39553363	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr2:39553363C>T	ENST00000263881.3	-	9	910	c.586G>A	c.(586-588)Gat>Aat	p.D196N	MAP4K3_ENST00000437545.1_Missense_Mutation_p.D133N|MAP4K3_ENST00000341681.5_Missense_Mutation_p.D196N|MAP4K3_ENST00000536018.1_5'Flank|RP11-449G16.1_ENST00000609671.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D196N(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GCCCAGAGATCACAGAGTTGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											121	123	122					2																	39553363		2203	4300	6503	39406867	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.586G>A	2.37:g.39553363C>T	ENSP00000263881:p.Asp196Asn		39406867	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793501	0.96952	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.75154	-0.91;0.73;-0.91	5.68	5.68	0.88126	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	D	0.93552	0.7942	H	0.99863	4.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96382	0.9282	9	.	.	.	.	19.7775	0.96400	0.0:1.0:0.0:0.0	.	196;196	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	N	196;133;196	ENSP00000263881:D196N;ENSP00000416958:D133N;ENSP00000345434:D196N	.	D	-	1	0	MAP4K3	39406867	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	7.631000	0.83237	2.668000	0.90789	0.585000	0.79938	GAT		0.418	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		T	39553363	C	T	39553363	3	4	1	1	0	0	0	0	1	0	0	0	9261	826	29	2	2202	2	MAP4K3	2	39553363	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08		39553363	203646010	8	8											
C2orf78	388960	broad.mit.edu	37	2	74042850	74042850	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr2:74042850G>C	ENST00000409561.1	+	3	1621	c.1500G>C	c.(1498-1500)agG>agC	p.R500S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	500								p.R470S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATCAAGTCAGGAAGAACAAGC	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											82	79	80					2																	74042850		1943	4142	6085	73896358	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1500G>C	2.37:g.74042850G>C	ENSP00000387124:p.Arg500Ser		73896358		Missense_Mutation	SNP	ENST00000409561.1	37	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814495	0.50527	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.11	3.27	0.37495	.	0.279729	0.25214	N	0.032287	T	0.43389	0.1245	M	0.75777	2.31	0.09310	N	1	P	0.47106	0.89	B	0.42738	0.396	T	0.41680	-0.9495	9	0.72032	D	0.01	-8.6865	8.4655	0.32953	0.0:0.1683:0.6571:0.1746	.	500	A6NCI8	CB078_HUMAN	S	500;470	.	ENSP00000340692:R470S	R	+	3	2	C2orf78	73896358	1.000000	0.71417	0.056000	0.19401	0.198000	0.23893	1.702000	0.37836	0.631000	0.30412	0.655000	0.94253	AGG		0.468	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		C	74042850	G	C	74042850	3	2	1	1	0	0	0	0	1	0	0	0	2195	1165	41	3	1510	3	C2orf78	2	74042850	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	34489487	74042850	169156523	9	9											
MALL	7851	broad.mit.edu	37	2	110845256	110845256	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr2:110845256T>A	ENST00000272462.2	-	3	1065	c.292A>T	c.(292-294)Acc>Tcc	p.T98S	MIR4436B1_ENST00000583272.1_RNA|MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	98	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.T98S(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		ATGCCAGTGGTCCCGTGGTAC	0.493																																																1	Substitution - Missense(1)	ovary(1)	2																																								110202545	SO:0001583	missense	7851			U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.292A>T	2.37:g.110845256T>A	ENSP00000272462:p.Thr98Ser		110202545	B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676833	0.29783	.	.	ENSG00000144063	ENST00000272462	T	0.25250	1.81	3.6	3.6	0.41247	Marvel (1);MARVEL-like domain (1);	0.109439	0.40554	N	0.001071	T	0.23532	0.0569	L	0.56396	1.775	0.80722	D	1	B	0.26445	0.149	B	0.27380	0.079	T	0.04229	-1.0967	10	0.26408	T	0.33	-28.5535	8.8789	0.35363	0.0:0.0:0.0:1.0	.	98	Q13021	MALL_HUMAN	S	98	ENSP00000272462:T98S	ENSP00000272462:T98S	T	-	1	0	MALL	110202545	0.594000	0.26849	0.997000	0.53966	0.329000	0.28539	0.606000	0.24194	1.417000	0.47077	0.254000	0.18369	ACC		0.493	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434		A	110845256	T	A	110845256	3	1	1	1	0	0	0	0	1	0	0	0	9201	1667	58	5	177	5	MALL	2	110845256	Missense_Mutation	SNP	T	TCGA-04-1331-01A-01W-0486-08	36802406	110845256	132354117	10	10											
NEB	4703	broad.mit.edu	37	2	152566216	152566217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	-	-	T	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr2:152566216_152566217insT	ENST00000172853.10	-	12	1135_1136	c.988_989insA	c.(988-990)acafs	p.T330fs	NEB_ENST00000603639.1_Frame_Shift_Ins_p.T330fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.T330fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.T330fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.T330fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.T330fs			P20929	NEBU_HUMAN	nebulin	330					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.T330fs*5(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATACTCTGGTGTTTCGGTCTGC	0.386																																																1	Insertion - Frameshift(1)	ovary(1)	2																																								152274463	SO:0001589	frameshift_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.989dupA	2.37:g.152566219_152566219dupT	ENSP00000172853:p.Thr330fs		152274462	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37																																																																																					0.386	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152566217	-	T	152566216	7	5	1	1	0	1	1	0	0	0	0	0	10302	1377	48	0	25381	0	NEB	2	152566216	Frame_Shift_Ins	INS	-	TCGA-04-1331-01A-01W-0486-08	41720960	152566216	90633157	11	11											
LRP2	4036	broad.mit.edu	37	2	170147490	170147490	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr2:170147490C>T	ENST00000263816.3	-	8	1072	c.787G>A	c.(787-789)Gtt>Att	p.V263I	LRP2_ENST00000443831.1_Missense_Mutation_p.V263I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	263					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V263I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CATTTATGAACATCATGAGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	2											110	108	109					2																	170147490		2203	4300	6503	169855736	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.787G>A	2.37:g.170147490C>T	ENSP00000263816:p.Val263Ile		169855736	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	5.630	0.300873	0.10678	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94376	-2.47;-3.41	3.69	-7.38	0.01407	.	1.878100	0.03031	N	0.152011	T	0.81250	0.4783	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.72754	-0.4198	9	.	.	.	.	1.2371	0.01955	0.3325:0.2381:0.2965:0.1328	.	263;263	E9PC35;P98164	.;LRP2_HUMAN	I	263	ENSP00000263816:V263I;ENSP00000409813:V263I	.	V	-	1	0	LRP2	169855736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.968000	0.03817	-1.688000	0.01435	-0.274000	0.10170	GTT		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170147490	C	T	170147490	3	4	1	1	0	0	0	0	1	0	0	0	8956	478	17	2	13468	2	LRP2	2	170147490	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	17581274	170147490	73051883	12	12											
TTN	7273	broad.mit.edu	37	2	179457223	179457223	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr2:179457223G>A	ENST00000591111.1	-	251	54810	c.54586C>T	c.(54586-54588)Cca>Tca	p.P18196S	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P10897S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P19837S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10964S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10772S|TTN_ENST00000342992.6_Missense_Mutation_p.P17269S			Q8WZ42	TITIN_HUMAN	titin	18196	Ig-like 105.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P17267S(1)|p.P10772S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACCAACTGGAGTCACATCA	0.403																																																2	Substitution - Missense(2)	ovary(2)	2											289	267	274					2																	179457223		1898	4116	6014	179165469	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54586C>T	2.37:g.179457223G>A	ENSP00000465570:p.Pro18196Ser		179165469	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	10.23	1.291667	0.23564	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47078	0.1426	N	0.25485	0.75	0.34085	D	0.660075	P;P;P;P	0.43231	0.801;0.801;0.801;0.801	B;B;B;B	0.34931	0.192;0.192;0.192;0.192	T	0.64626	-0.6363	9	0.87932	D	0	.	12.3433	0.55105	0.0:0.1344:0.7411:0.1245	.	10772;10897;10964;18196	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17269;10772;10964;10897;10770	ENSP00000343764:P17269S;ENSP00000434586:P10772S;ENSP00000340554:P10964S;ENSP00000352154:P10897S	ENSP00000340554:P10964S	P	-	1	0	TTN	179165469	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.223000	0.58587	2.868000	0.98415	0.557000	0.71058	CCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179457223	G	A	179457223	3	1	1	1	0	0	0	0	1	0	0	0	16735	1174	41	2	48718	2	TTN	2	179457223	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	9309733	179457223	63742150	13	13											
MAP2	4133	broad.mit.edu	37	2	210517994	210517994	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr2:210517994C>A	ENST00000360351.4	+	4	606	c.100C>A	c.(100-102)Caa>Aaa	p.Q34K	MAP2_ENST00000392194.1_Missense_Mutation_p.Q34K|MAP2_ENST00000361559.4_Missense_Mutation_p.Q34K|MAP2_ENST00000447185.1_Missense_Mutation_p.Q34K|MAP2_ENST00000199940.6_Missense_Mutation_p.Q34K	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	34					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.Q34K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GATTAAGGATCAAGGCGGAGC	0.542																																					Pancreas(27;423 979 28787 29963)											1	Substitution - Missense(1)	ovary(1)	2											110	81	91					2																	210517994		2203	4300	6503	210226239	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.100C>A	2.37:g.210517994C>A	ENSP00000353508:p.Gln34Lys		210226239	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643054	0.87859	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.45	5.45	0.79879	.	0.000000	0.53938	D	0.000043	T	0.35307	0.0927	L	0.27053	0.805	0.43868	D	0.996475	D;B;P;B;D;P	0.61080	0.988;0.135;0.891;0.034;0.989;0.801	D;B;P;B;D;B	0.75020	0.985;0.12;0.877;0.015;0.966;0.258	T	0.07233	-1.0783	10	0.51188	T	0.08	-13.6884	18.2826	0.90103	0.0:1.0:0.0:0.0	.	34;34;35;34;34;34	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	K	34	ENSP00000199940:Q34K;ENSP00000376031:Q34K;ENSP00000353508:Q34K;ENSP00000355290:Q34K;ENSP00000409969:Q34K;ENSP00000376032:Q34K;ENSP00000392164:Q34K	ENSP00000199940:Q34K	Q	+	1	0	MAP2	210226239	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.333000	0.65917	2.561000	0.86390	0.655000	0.94253	CAA		0.542	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		A	210517994	C	A	210517994	3	1	1	1	0	0	0	0	1	0	0	0	9235	827	29	3	102	3	MAP2	2	210517994	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	31060771	210517994	32681379	14	14											
STK36	27148	broad.mit.edu	37	2	219559278	219559278	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr2:219559278G>T	ENST00000295709.3	+	21	2710	c.2431G>T	c.(2431-2433)Ggt>Tgt	p.G811C	STK36_ENST00000392106.2_Missense_Mutation_p.G811C|STK36_ENST00000440309.1_Missense_Mutation_p.G811C|STK36_ENST00000392105.3_Missense_Mutation_p.G811C	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.G811C(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGGACAGCTTGGTCAGCAAGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											114	110	111					2																	219559278		2203	4300	6503	219267522	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2431G>T	2.37:g.219559278G>T	ENSP00000295709:p.Gly811Cys		219267522		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.49|11.49	1.654865|1.654865	0.29425|0.29425	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309|ENST00000431040	T;T;T;T|.	0.71222|.	-0.55;-0.54;-0.55;-0.55|.	5.01|5.01	1.92|1.92	0.25849|0.25849	.|.	0.297179|.	0.24366|.	N|.	0.039148|.	T|T	0.28863|0.28863	0.0716|0.0716	N|N	0.19112|0.19112	0.55|0.55	0.31044|0.31044	N|N	0.716014|0.716014	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.09377|.	0.004;0.001|.	T|T	0.35968|0.35968	-0.9767|-0.9767	10|6	0.46703|0.87932	T|D	0.11|0	-0.5893|-0.5893	4.071|4.071	0.09882|0.09882	0.2839:0.0:0.5159:0.2002|0.2839:0.0:0.5159:0.2002	.|.	811;811|.	Q9NRP7-2;Q9NRP7|.	.;STK36_HUMAN|.	C|F	811|4	ENSP00000295709:G811C;ENSP00000375955:G811C;ENSP00000375954:G811C;ENSP00000394095:G811C|.	ENSP00000295709:G811C|ENSP00000416372:L4F	G|L	+|+	1|3	0|2	STK36|STK36	219267522|219267522	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.442000|0.442000	0.21628|0.21628	0.661000|0.661000	0.30985|0.30985	-0.136000|-0.136000	0.14681|0.14681	GGT|TTG		0.557	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			T	219559278	G	T	219559278	3	4	1	1	0	0	0	0	1	0	0	0	15304	1348	47	3	2509	3	STK36	2	219559278	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	9041284	219559278	23640095	15	15											
BRPF1	7862	broad.mit.edu	37	3	9782526	9782526	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr3:9782526C>G	ENST00000457855.1	+	3	1634	c.1623C>G	c.(1621-1623)caC>caG	p.H541Q	BRPF1_ENST00000383829.2_Missense_Mutation_p.H541Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.H541Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.H541Q|BRPF1_ENST00000302054.3_Missense_Mutation_p.H541Q			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	541	Interaction with MEAF6 and ING5.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H541Q(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGAGGCTGCACAGCTACTGGA	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											85	74	78					3																	9782526		2203	4300	6503	9757526	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1623C>G	3.37:g.9782526C>G	ENSP00000410210:p.His541Gln		9757526	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855714	0.51376	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.16743	2.33;2.32;3.72;2.33;2.33	5.74	4.86	0.63082	.	0.093789	0.85682	D	0.000000	T	0.20414	0.0491	L	0.52823	1.66	0.80722	D	1	B;B;B;B	0.32324	0.364;0.198;0.198;0.249	B;B;B;B	0.36922	0.236;0.171;0.176;0.186	T	0.02533	-1.1145	10	0.29301	T	0.29	.	13.03	0.58837	0.0:0.865:0.0:0.135	.	541;541;541;541	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	Q	541	ENSP00000402485:H541Q;ENSP00000398863:H541Q;ENSP00000373340:H541Q;ENSP00000306297:H541Q;ENSP00000410210:H541Q	ENSP00000306297:H541Q	H	+	3	2	BRPF1	9757526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.999000	0.29757	1.403000	0.46800	0.650000	0.86243	CAC		0.537	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		G	9782526	C	G	9782526	3	3	1	1	0	0	0	0	1	0	0	0	1520	477	17	3	1633	3	BRPF1	3	9782526	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08		9782526	188239904	16	16											
WNT7A	7476	broad.mit.edu	37	3	13896086	13896086	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr3:13896086C>A	ENST00000285018.4	-	3	817	c.513G>T	c.(511-513)gaG>gaT	p.E171D		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	171					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.E171D(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCTGCTTGATCTCCCGGGCAT	0.632																																																1	Substitution - Missense(1)	ovary(1)	3											115	127	123					3																	13896086		2203	4300	6503	13871087	SO:0001583	missense	7476			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.513G>T	3.37:g.13896086C>A	ENSP00000285018:p.Glu171Asp		13871087	Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273519	0.80580	.	.	ENSG00000154764	ENST00000285018	T	0.78481	-1.18	5.11	3.28	0.37604	.	0.000000	0.85682	D	0.000000	D	0.86112	0.5855	M	0.80332	2.49	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86688	0.1921	10	0.87932	D	0	.	9.2472	0.37534	0.0:0.7918:0.0:0.2082	.	171	O00755	WNT7A_HUMAN	D	171	ENSP00000285018:E171D	ENSP00000285018:E171D	E	-	3	2	WNT7A	13871087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.339000	0.33885	2.386000	0.81285	0.561000	0.74099	GAG		0.632	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		A	13896086	C	A	13896086	3	1	1	1	0	0	0	0	1	0	0	0	17394	912	32	3	544	3	WNT7A	3	13896086	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	4113560	13896086	184126344	17	17											
CSRNP1	64651	broad.mit.edu	37	3	39185371	39185371	+	Silent	SNP	A	A	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr3:39185371A>T	ENST00000273153.5	-	5	1122	c.945T>A	c.(943-945)ccT>ccA	p.P315P	CSRNP1_ENST00000514182.1_Silent_p.P315P	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	315					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	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.P315P(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TGCCCTGGGCAGGGGCCTCCA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	3											34	35	35					3																	39185371		2203	4300	6503	39160375	SO:0001819	synonymous_variant	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.945T>A	3.37:g.39185371A>T			39160375	Q69YY5	Silent	SNP	ENST00000273153.5	37	CCDS2682.1																																																																																				0.592	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		T	39185371	A	T	39185371	2	4	1	1	0	0	0	0	0	0	0	1	3963	175	7	5		5	CSRNP1	3	39185371	Silent	SNP	A	TCGA-04-1331-01A-01W-0486-08	25289285	39185371	158837059	18	18											
RRP9	9136	broad.mit.edu	37	3	51975463	51975463	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr3:51975463C>A	ENST00000232888.6	-	2	205	c.132G>T	c.(130-132)aaG>aaT	p.K44N	PARP3_ENST00000417220.2_5'Flank|PARP3_ENST00000398755.3_5'Flank|PARP3_ENST00000431474.1_5'Flank	NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	44					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.K44N(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CCTCATTCATCTTGCCGCCAC	0.552																																																1	Substitution - Missense(1)	ovary(1)	3											135	129	131					3																	51975463		2203	4300	6503	51950503	SO:0001583	missense	9136			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.132G>T	3.37:g.51975463C>A	ENSP00000232888:p.Lys44Asn		51950503	B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452403	0.43531	.	.	ENSG00000114767	ENST00000232888	T	0.52983	0.64	5.83	3.03	0.35002	.	0.199371	0.42172	D	0.000759	T	0.33818	0.0876	N	0.24115	0.695	0.41825	D	0.990046	B	0.29301	0.241	B	0.33454	0.164	T	0.05517	-1.0880	10	0.30078	T	0.28	-19.3197	11.1163	0.48262	0.0:0.7713:0.0:0.2287	.	44	O43818	U3IP2_HUMAN	N	44	ENSP00000232888:K44N	ENSP00000232888:K44N	K	-	3	2	RRP9	51950503	0.997000	0.39634	0.989000	0.46669	0.509000	0.34042	0.914000	0.28624	0.092000	0.17331	-1.134000	0.01955	AAG		0.552	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		A	51975463	C	A	51975463	3	1	1	1	0	0	0	0	1	0	0	0	13694	912	32	3	1351	3	RRP9	3	51975463	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	12790092	51975463	146046967	19	19											
TBL1XR1	79718	broad.mit.edu	37	3	176769438	176769438	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr3:176769438G>C	ENST00000430069.1	-	5	540	c.281C>G	c.(280-282)aCa>aGa	p.T94R	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.T94R			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	94					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.T94R(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTGTTGTCTTGTTTGTACTAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											71	62	65					3																	176769438		1879	4105	5984	178252132	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.281C>G	3.37:g.176769438G>C	ENSP00000405574:p.Thr94Arg		178252132	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489162	0.44249	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758;ENST00000428970;ENST00000424913;ENST00000352800;ENST00000437738;ENST00000431421;ENST00000450267;ENST00000431674	T;T	0.51817	0.69;0.69	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.50333	1.59	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.30268	-0.9984	10	0.18710	T	0.47	-26.9563	18.4353	0.90643	0.0:0.0:1.0:0.0	.	94	Q9BZK7	TBL1R_HUMAN	R	94;94;7;7;7;94;94;7;94;94	ENSP00000405574:T94R;ENSP00000413251:T94R	ENSP00000263964:T94R	T	-	2	0	TBL1XR1	178252132	1.000000	0.71417	0.373000	0.26003	0.930000	0.56654	9.476000	0.97823	2.609000	0.88269	0.557000	0.71058	ACA		0.473	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		C	176769438	G	C	176769438	3	2	1	1	0	0	0	0	1	0	0	0	15640	1377	48	3	1311	3	TBL1XR1	3	176769438	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	124793975	176769438	21252992	20	20											
KIAA1109	84162	broad.mit.edu	37	4	123280783	123280783	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr4:123280783T>C	ENST00000264501.4	+	85	15080	c.14707T>C	c.(14707-14709)Tcc>Ccc	p.S4903P	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S4903P			Q2LD37	K1109_HUMAN	KIAA1109	4903					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S4903P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGACGACAATTCCTCTGATAA	0.353																																																1	Substitution - Missense(1)	ovary(1)	4											127	114	118					4																	123280783		1850	4087	5937	123500233	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14707T>C	4.37:g.123280783T>C	ENSP00000264501:p.Ser4903Pro		123500233	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339840	0.81911	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.47177	0.85;0.85;0.85	5.57	4.4	0.53042	Fragile site-associated protein, C-terminal (1);	0.058425	0.64402	D	0.000001	T	0.54175	0.1842	L	0.48642	1.525	0.80722	D	1	P;D	0.53462	0.95;0.96	P;P	0.56514	0.698;0.8	T	0.50466	-0.8825	10	0.38643	T	0.18	.	12.4954	0.55925	0.0:0.0:0.1516:0.8484	.	4902;4903	Q2LD37-4;Q2LD37	.;K1109_HUMAN	P	4903;4903;1572;504	ENSP00000264501:S4903P;ENSP00000373390:S4903P;ENSP00000410874:S1572P	ENSP00000264501:S4903P	S	+	1	0	KIAA1109	123500233	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.363000	0.59473	0.948000	0.37687	0.528000	0.53228	TCC		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123280783	T	C	123280783	3	2	1	1	0	0	0	0	1	0	0	0	8208	1783	62	4	15037	4	KIAA1109	4	123280783	Missense_Mutation	SNP	T	TCGA-04-1331-01A-01W-0486-08		123280783	67873493	21	21											
PAPD7	11044	broad.mit.edu	37	5	6748679	6748679	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr5:6748679C>G	ENST00000230859.6	+	8	941	c.812C>G	c.(811-813)tCc>tGc	p.S271C		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	501					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.S271C(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGCCAGGTCCTATCCAAAC	0.547																																					NSCLC(7;212 333 5667 23379 46547)											1	Substitution - Missense(1)	ovary(1)	5											277	241	253					5																	6748679		2203	4300	6503	6801679	SO:0001583	missense	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.812C>G	5.37:g.6748679C>G	ENSP00000230859:p.Ser271Cys		6801679	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697168	0.48202	.	.	ENSG00000112941	ENST00000230859	T	0.35236	1.32	5.62	4.74	0.60224	.	0.241327	0.43416	D	0.000567	T	0.30510	0.0767	L	0.47716	1.5	0.46564	D	0.999105	B;B	0.18968	0.032;0.014	B;B	0.17098	0.017;0.017	T	0.08310	-1.0728	10	0.39692	T	0.17	-6.4797	9.2368	0.37470	0.1465:0.7816:0.0:0.0719	.	271;271	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	C	271	ENSP00000230859:S271C	ENSP00000230859:S271C	S	+	2	0	PAPD7	6801679	0.983000	0.35010	0.994000	0.49952	0.970000	0.65996	2.181000	0.42547	1.337000	0.45525	0.561000	0.74099	TCC		0.547	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		G	6748679	C	G	6748679	3	3	1	1	0	0	0	0	1	0	0	0	11426	855	30	3	838	3	PAPD7	5	6748679	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08		6748679	174166581	22	22											
TRIO	7204	broad.mit.edu	37	5	14297204	14297204	+	Silent	SNP	C	C	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr5:14297204C>G	ENST00000344204.4	+	7	1224	c.1200C>G	c.(1198-1200)cgC>cgG	p.R400R	TRIO_ENST00000509967.2_Silent_p.R351R|TRIO_ENST00000537187.1_Silent_p.R400R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	400					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R400R(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATATAAACCGCATCATGTCGG	0.542																																																1	Substitution - coding silent(1)	ovary(1)	5											91	82	85					5																	14297204		2203	4300	6503	14350204	SO:0001819	synonymous_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1200C>G	5.37:g.14297204C>G			14350204	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																				0.542	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14297204	C	G	14297204	2	3	1	1	0	0	0	0	0	0	0	1	16552	697	25	3		3	TRIO	5	14297204	Silent	SNP	C	TCGA-04-1331-01A-01W-0486-08	7548525	14297204	166618056	23	23											
HEATR7B2	133558	broad.mit.edu	37	5	41049516	41049516	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr5:41049516G>T	ENST00000399564.4	-	14	1817	c.1367C>A	c.(1366-1368)aCt>aAt	p.T456N	MROH2B_ENST00000506092.2_Missense_Mutation_p.T11N	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	456								p.T456N(2)									TACCACAAAAGTCAGGATCCT	0.458																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	5											63	59	60					5																	41049516		1898	4125	6023	41085273	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1367C>A	5.37:g.41049516G>T	ENSP00000382476:p.Thr456Asn		41085273	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174440	0.38413	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66995	3.19;-0.24	5.7	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.46758	D	0.000276	T	0.72542	0.3473	L	0.54323	1.7	0.33885	D	0.636657	D	0.76494	0.999	D	0.69479	0.964	T	0.73033	-0.4110	10	0.18710	T	0.47	.	9.6167	0.39696	0.0921:0.0:0.9079:0.0	.	456	Q7Z745	HTRB2_HUMAN	N	11;160;456	ENSP00000441504:T11N;ENSP00000382476:T456N	ENSP00000296803:T160N	T	-	2	0	HEATR7B2	41085273	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.269000	0.33074	2.705000	0.92388	0.650000	0.86243	ACT		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41049516	G	T	41049516	3	4	1	1	0	0	0	0	1	0	0	0	7035	1029	36	3	3506	3	HEATR7B2	5	41049516	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	26752312	41049516	139865744	24	24											
TRPC7	57113	broad.mit.edu	37	5	135692447	135692447	+	Missense_Mutation	SNP	T	T	A	rs565522086		TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr5:135692447T>A	ENST00000513104.1	-	2	911	c.629A>T	c.(628-630)gAc>gTc	p.D210V	TRPC7_ENST00000355180.3_Missense_Mutation_p.D210V|TRPC7_ENST00000426057.2_Missense_Mutation_p.D210V	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	210					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTGAAGGAGTCTTTCCGCTG	0.602													T|||	1	0.000199681	8e-04	0	5008	,	,		19986	0		0	False		,,,				2504	0															0			5											57	63	61					5																	135692447		2157	4269	6426	135720346	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.629A>T	5.37:g.135692447T>A	ENSP00000426070:p.Asp210Val		135720346	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.346766|4.346766	0.82022|0.82022	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.85171|.	-1.95;-1.95;-1.95|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Transient receptor potential II (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83529|0.83529	0.5274|0.5274	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.998;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;0.957;1.0;0.999|.	D|D	0.87004|0.87004	0.2118|0.2118	10|5	0.87932|.	D|.	0|.	-31.9821|-31.9821	15.3565|15.3565	0.74431|0.74431	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	210;210;210;210|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	V|S	210|209	ENSP00000347312:D210V;ENSP00000441628:D210V;ENSP00000426070:D210V|.	ENSP00000265193:D210V|.	D|R	-|-	2|3	0|2	TRPC7|TRPC7	135720346|135720346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.868000|7.868000	0.87116|0.87116	2.205000|2.205000	0.71048|0.71048	0.528000|0.528000	0.53228|0.53228	GAC|AGA		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135692447	T	A	135692447	3	1	1	1	0	0	0	0	1	0	0	0	16584	1667	58	5	2003	5	TRPC7	5	135692447	Missense_Mutation	SNP	T	TCGA-04-1331-01A-01W-0486-08	94642931	135692447	45222813	25	25											
TCOF1	6949	broad.mit.edu	37	5	149753735	149753735	+	Splice_Site	SNP	A	A	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr5:149753735A>C	ENST00000504761.2	+	8	870		c.e8-1		TCOF1_ENST00000323668.7_Splice_Site|TCOF1_ENST00000445265.2_Splice_Site|TCOF1_ENST00000451292.1_Splice_Site|TCOF1_ENST00000377797.3_Splice_Site|TCOF1_ENST00000394269.3_Splice_Site|TCOF1_ENST00000439160.2_Splice_Site|TCOF1_ENST00000513346.1_Splice_Site			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1						skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.?(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTTTCACCAGGTAAAGGCC	0.547																																																1	Unknown(1)	ovary(1)	5											13	13	13					5																	149753735		2185	4258	6443	149733928	SO:0001630	splice_region_variant	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.871-1A>C	5.37:g.149753735A>C			149733928	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Splice_Site	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	A	8.784	0.928845	0.18131	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	.	.	.	4.66	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.34083	D	0.659766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1861	0.20498	0.8893:0.0:0.1107:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCOF1	149733928	0.989000	0.36119	0.147000	0.22382	0.027000	0.11550	3.864000	0.56024	2.030000	0.59900	0.379000	0.24179	.		0.547	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656	Intron	C	149753735	A	C	149753735	5	2	1	1	0	0	0	0	0	0	1	0	15708	202	7	5	899	5	TCOF1	5	149753735	Splice_Site	SNP	A	TCGA-04-1331-01A-01W-0486-08	14061288	149753735	31161525	26	26											
COL9A1	1297	broad.mit.edu	37	6	70983761	70983761	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr6:70983761G>A	ENST00000357250.6	-	12	1212	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	COL9A1_ENST00000370499.4_Missense_Mutation_p.R109C|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.R109C	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	352	Collagen-like 2.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.R352C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGAAATCCACGCGATCCAGGC	0.294																																																1	Substitution - Missense(1)	ovary(1)	6											53	56	55					6																	70983761		2203	4300	6503	71040482	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1054C>T	6.37:g.70983761G>A	ENSP00000349790:p.Arg352Cys		71040482	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393632	0.62066	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.94537	-3.45;-3.41;-3.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.97820	1.0256	10	0.66056	D	0.02	.	18.1531	0.89682	0.0:0.0:1.0:0.0	.	352;109	P20849;P20849-2	CO9A1_HUMAN;.	C	352;109;109	ENSP00000349790:R352C;ENSP00000315252:R109C;ENSP00000359530:R109C	ENSP00000315252:R109C	R	-	1	0	COL9A1	71040482	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.822000	0.75277	2.885000	0.99019	0.655000	0.94253	CGT		0.294	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			A	70983761	G	A	70983761	3	1	1	1	0	0	0	0	1	0	0	0	3707	1087	38	1	1819	1	COL9A1	6	70983761	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08		70983761	100131306	27	27											
HACE1	57531	broad.mit.edu	37	6	105291160	105291160	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr6:105291160T>C	ENST00000262903.4	-	5	616	c.340A>G	c.(340-342)Atg>Gtg	p.M114V	HACE1_ENST00000369125.2_Missense_Mutation_p.M114V|RP11-809N15.2_ENST00000422930.2_RNA	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	114					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.M114V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AATTTACTCATACATTTCTTC	0.284																																																1	Substitution - Missense(1)	ovary(1)	6											115	129	125					6																	105291160		2202	4297	6499	105397853	SO:0001583	missense	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.340A>G	6.37:g.105291160T>C	ENSP00000262903:p.Met114Val		105397853	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	6.273	0.418421	0.11870	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.57595	0.39;0.39;0.56;0.39	5.92	5.92	0.95590	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	N	0.00315	-1.66	0.80722	D	1	P;P	0.35542	0.508;0.508	P;P	0.51945	0.685;0.685	T	0.57676	-0.7770	10	0.28530	T	0.3	.	16.3604	0.83263	0.0:0.0:0.0:1.0	.	114;114	E9PGP0;Q8IYU2	.;HACE1_HUMAN	V	114;114;114;80	ENSP00000262903:M114V;ENSP00000358121:M114V;ENSP00000429765:M114V;ENSP00000427901:M80V	ENSP00000262903:M114V	M	-	1	0	HACE1	105397853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.260000	0.74910	0.528000	0.53228	ATG		0.284	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		C	105291160	T	C	105291160	3	2	1	1	0	0	0	0	1	0	0	0	6940	1406	49	4	2469	4	HACE1	6	105291160	Missense_Mutation	SNP	T	TCGA-04-1331-01A-01W-0486-08	34307399	105291160	65823907	28	28											
NCOA7	135112	broad.mit.edu	37	6	126236497	126236497	+	Silent	SNP	A	A	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr6:126236497A>C	ENST00000368357.3	+	12	2467	c.2115A>C	c.(2113-2115)acA>acC	p.T705T	NCOA7_ENST00000229634.9_Silent_p.T590T|NCOA7_ENST00000392477.2_Silent_p.T705T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	705					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.T705T(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ATTTGTACACATTCTTTGTTC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	6											218	184	196					6																	126236497		2203	4300	6503	126278190	SO:0001819	synonymous_variant	135112			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2115A>C	6.37:g.126236497A>C			126278190	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	ENST00000368357.3	37	CCDS5132.1																																																																																				0.433	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		C	126236497	A	C	126236497	2	2	1	1	0	0	0	0	0	0	0	1	10234	204	8	5		5	NCOA7	6	126236497	Silent	SNP	A	TCGA-04-1331-01A-01W-0486-08	20945337	126236497	44878570	29	29											
LATS1	9113	broad.mit.edu	37	6	149983199	149983199	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr6:149983199C>G	ENST00000543571.1	-	8	3606	c.3059G>C	c.(3058-3060)aGa>aCa	p.R1020T	LATS1_ENST00000253339.5_Missense_Mutation_p.R1020T	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R1020T(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGACTGCTGTCTCAGGTCACT	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											112	114	114					6																	149983199		2203	4300	6503	150024892	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3059G>C	6.37:g.149983199C>G	ENSP00000437550:p.Arg1020Thr		150024892		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074715	0.76415	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.07567	3.18;3.18	5.6	5.6	0.85130	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.56097	D	0.000031	T	0.28896	0.0717	M	0.89163	3.01	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	T	0.10683	-1.0619	9	.	.	.	.	19.6081	0.95588	0.0:1.0:0.0:0.0	.	1020	O95835	LATS1_HUMAN	T	1020	ENSP00000437550:R1020T;ENSP00000253339:R1020T	.	R	-	2	0	LATS1	150024892	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.442000	0.80503	2.643000	0.89663	0.591000	0.81541	AGA		0.393	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		G	149983199	C	G	149983199	3	3	1	1	0	0	0	0	1	0	0	0	8646	913	32	3	337	3	LATS1	6	149983199	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	23746702	149983199	21131868	30	30											
TNS3	64759	broad.mit.edu	37	7	47342861	47342861	+	Silent	SNP	T	T	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr7:47342861T>A	ENST00000398879.1	-	22	3510	c.3144A>T	c.(3142-3144)tcA>tcT	p.S1048S	TNS3_ENST00000311160.9_Silent_p.S1048S|TNS3_ENST00000355730.3_Silent_p.S808S			Q68CZ2	TENS3_HUMAN	tensin 3	1048					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.S1048S(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGGGGTCGGTGACGCTCCAT	0.667																																																1	Substitution - coding silent(1)	ovary(1)	7											17	21	20					7																	47342861		2033	4170	6203	47309386	SO:0001819	synonymous_variant	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3144A>T	7.37:g.47342861T>A			47309386	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	CCDS5506.2																																																																																				0.667	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		A	47342861	T	A	47342861	2	1	1	1	0	0	0	0	0	0	0	1	16344	1683	59	5		5	TNS3	7	47342861	Silent	SNP	T	TCGA-04-1331-01A-01W-0486-08		47342861	111795802	31	31											
PCLO	27445	broad.mit.edu	37	7	82544341	82544341	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr7:82544341C>T	ENST00000333891.9	-	7	13298	c.12961G>A	c.(12961-12963)Gct>Act	p.A4321T	PCLO_ENST00000423517.2_Missense_Mutation_p.A4321T|PCLO_ENST00000437081.1_Missense_Mutation_p.A1041T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A4321T(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAGCTTCAGCCTCTTGAGCT	0.438																																																3	Substitution - Missense(3)	endometrium(2)|ovary(1)	7											62	60	60					7																	82544341		1883	4106	5989	82382277	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12961G>A	7.37:g.82544341C>T	ENSP00000334319:p.Ala4321Thr		82382277		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.512	0.866643	0.17250	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.16457	2.34;2.35	5.79	5.79	0.91817	.	.	.	.	.	T	0.15955	0.0384	L	0.43152	1.355	0.39537	D	0.968764	B;B;B	0.28783	0.024;0.222;0.222	B;B;B	0.27715	0.005;0.082;0.082	T	0.03423	-1.1038	9	0.87932	D	0	.	9.7593	0.40522	0.0:0.7861:0.1415:0.0724	.	4252;4321;4321	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	T	4321;4321;1041	ENSP00000334319:A4321T;ENSP00000388393:A4321T	ENSP00000334319:A4321T	A	-	1	0	PCLO	82382277	0.945000	0.32115	0.998000	0.56505	0.997000	0.91878	2.111000	0.41883	2.753000	0.94483	0.557000	0.71058	GCT		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82544341	C	T	82544341	3	4	1	1	0	0	0	0	1	0	0	0	11583	739	26	2	2560	2	PCLO	7	82544341	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	35201480	82544341	76594322	32	32											
DOCK5	80005	broad.mit.edu	37	8	25198465	25198465	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr8:25198465G>T	ENST00000276440.7	+	23	2444	c.2400G>T	c.(2398-2400)atG>atT	p.M800I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	800					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.M800I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTTTCAATATGCTGATGGACA	0.438																																					Pancreas(145;34 1887 3271 10937 30165)											1	Substitution - Missense(1)	ovary(1)	8											71	67	69					8																	25198465		2203	4300	6503	25254382	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2400G>T	8.37:g.25198465G>T	ENSP00000276440:p.Met800Ile		25254382	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.020|5.020	0.189326|0.189326	0.09547|0.09547	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.18960	.|2.18	4.99|4.99	-3.09|-3.09	0.05331|0.05331	.|Armadillo-type fold (1);	.|0.895719	.|0.09915	.|N	.|0.739277	T|T	0.06371|0.06371	0.0164|0.0164	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.32851|0.32851	-0.9891|-0.9891	5|10	.|0.30854	.|T	.|0.27	.|.	0.9033|0.9033	0.01279|0.01279	0.4215:0.1667:0.206:0.2058|0.4215:0.1667:0.206:0.2058	.|.	.|790;575;800	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	S|I	572|800	.|ENSP00000276440:M800I	.|ENSP00000276440:M800I	A|M	+|+	1|3	0|0	DOCK5|DOCK5	25254382|25254382	0.001000|0.001000	0.12720|0.12720	0.070000|0.070000	0.20053|0.20053	0.224000|0.224000	0.24922|0.24922	-0.127000|-0.127000	0.10547|0.10547	-0.252000|-0.252000	0.09528|0.09528	-0.808000|-0.808000	0.03180|0.03180	GCT|ATG		0.438	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25198465	G	T	25198465	3	4	1	1	0	0	0	0	1	0	0	0	4690	1319	46	3	2490	3	DOCK5	8	25198465	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08		25198465	121165557	33	33											
COL15A1	1306	broad.mit.edu	37	9	101747856	101747856	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr9:101747856C>T	ENST00000375001.3	+	3	533	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	37					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.S37F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAGACTGCTTCCCAGGGTCAC	0.552																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)	9											56	54	55					9																	101747856		2203	4300	6503	100787677	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.110C>T	9.37:g.101747856C>T	ENSP00000364140:p.Ser37Phe		100787677	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392531	0.42410	.	.	ENSG00000204291	ENST00000375001	D	0.90900	-2.75	5.11	5.11	0.69529	.	1.458950	0.03909	N	0.281524	D	0.92635	0.7660	L	0.29908	0.895	0.33137	D	0.54385	D	0.69078	0.997	P	0.59012	0.85	D	0.85616	0.1261	10	0.45353	T	0.12	-18.7942	16.3839	0.83495	0.0:1.0:0.0:0.0	.	37	P39059	COFA1_HUMAN	F	37	ENSP00000364140:S37F	ENSP00000364140:S37F	S	+	2	0	COL15A1	100787677	0.744000	0.28250	0.994000	0.49952	0.774000	0.43823	4.610000	0.61155	2.521000	0.84997	0.650000	0.86243	TCC		0.552	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		T	101747856	C	T	101747856	3	4	1	1	0	0	0	0	1	0	0	0	3672	855	30	2	120	2	COL15A1	9	101747856	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08		101747856	39465575	34	34											
MKX	283078	broad.mit.edu	37	10	28023684	28023684	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr10:28023684C>A	ENST00000375790.5	-	5	971	c.539G>T	c.(538-540)gGg>gTg	p.G180V	MKX_ENST00000419761.1_Missense_Mutation_p.G180V			Q8IYA7	MKX_HUMAN	mohawk homeobox	180					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G180V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATTATAGCCCCCTTCGTTCAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	10											121	121	121					10																	28023684		2203	4300	6503	28063690	SO:0001583	missense	283078			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.539G>T	10.37:g.28023684C>A	ENSP00000364946:p.Gly180Val		28063690	B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844714	0.16963	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.64438	-0.1;-0.1	5.71	1.38	0.22167	.	0.589336	0.19010	N	0.125099	T	0.43411	0.1246	N	0.22421	0.69	0.39722	D	0.971483	B	0.09022	0.002	B	0.08055	0.003	T	0.28427	-1.0044	10	0.52906	T	0.07	-11.4336	7.4191	0.27061	0.0:0.5947:0.1224:0.2829	.	180	Q8IYA7	MKX_HUMAN	V	180	ENSP00000364946:G180V;ENSP00000400896:G180V	ENSP00000364946:G180V	G	-	2	0	MKX	28063690	0.016000	0.18221	0.219000	0.23793	0.723000	0.41478	0.067000	0.14510	0.337000	0.23665	0.558000	0.71614	GGG		0.493	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		A	28023684	C	A	28023684	3	1	1	1	0	0	0	0	1	0	0	0	9610	623	22	3	531	3	MKX	10	28023684	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08		28023684	107511063	35	35											
LZTS2	84445	broad.mit.edu	37	10	102763427	102763427	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr10:102763427C>G	ENST00000370220.1	+	2	3635	c.572C>G	c.(571-573)tCc>tGc	p.S191C	LZTS2_ENST00000370223.3_Missense_Mutation_p.S191C					leucine zipper, putative tumor suppressor 2									p.S191C(1)|p.S54C(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		tcctcctcctcctcttcctcc	0.647																																					Esophageal Squamous(8;38 437 13604 19902 37640)											2	Substitution - Missense(2)	ovary(2)	10											97	115	109					10																	102763427		2203	4299	6502	102753417	SO:0001583	missense	84445			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.572C>G	10.37:g.102763427C>G	ENSP00000359240:p.Ser191Cys		102753417		Missense_Mutation	SNP	ENST00000370220.1	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635554	0.67130	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.33865	1.39;1.39	5.12	5.12	0.69794	.	0.536231	0.21286	N	0.077066	T	0.31389	0.0795	N	0.08118	0	0.33103	D	0.539512	D	0.69078	0.997	P	0.52881	0.712	T	0.46569	-0.9182	10	0.62326	D	0.03	-15.161	14.4181	0.67165	0.0:1.0:0.0:0.0	.	191	Q9BRK4	LZTS2_HUMAN	C	191	ENSP00000359243:S191C;ENSP00000359240:S191C	ENSP00000314437:S191C	S	+	2	0	LZTS2	102753417	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.225000	0.58600	2.539000	0.85634	0.561000	0.74099	TCC		0.647	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		G	102763427	C	G	102763427	3	3	1	1	0	0	0	0	1	0	0	0	9139	855	30	3	578	3	LZTS2	10	102763427	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	74739743	102763427	32771320	36	36											
C11orf30	56946	broad.mit.edu	37	11	76207393	76207393	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr11:76207393G>C	ENST00000529032.1	+	8	1243	c.1243G>C	c.(1243-1245)Gtg>Ctg	p.V415L	C11orf30_ENST00000524490.1_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.V416L|C11orf30_ENST00000533248.1_Missense_Mutation_p.V429L|C11orf30_ENST00000524767.1_Missense_Mutation_p.V430L|C11orf30_ENST00000525038.1_Missense_Mutation_p.V430L|C11orf30_ENST00000343878.3_Missense_Mutation_p.V415L|C11orf30_ENST00000334736.3_Missense_Mutation_p.V415L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	415	Gln-rich.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V415L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GTTATATCAAGTGCAACAGCA	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											152	133	139					11																	76207393		2200	4292	6492	75885041	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1243G>C	11.37:g.76207393G>C	ENSP00000432327:p.Val415Leu		75885041	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851537	0.51270	.	.	ENSG00000158636	ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.82	4.89	0.63831	.	0.323261	0.30134	N	0.010324	T	0.17195	0.0413	N	0.08118	0	0.25616	N	0.986448	B;B;B;B;B;B;B	0.20261	0.005;0.003;0.005;0.012;0.043;0.007;0.007	B;B;B;B;B;B;B	0.20955	0.002;0.002;0.002;0.008;0.032;0.003;0.003	T	0.13872	-1.0493	9	0.26408	T	0.33	-4.7892	6.2074	0.20610	0.1772:0.0:0.6736:0.1492	.	429;430;430;415;365;416;415	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	L	415;415;365;430;429;416;430;415	.	ENSP00000334130:V415L	V	+	1	0	C11orf30	75885041	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.840000	0.39230	1.424000	0.47217	0.563000	0.77884	GTG		0.483	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		C	76207393	G	C	76207393	3	2	1	1	0	0	0	0	1	0	0	0	1636	1029	36	3	1273	3	C11orf30	11	76207393	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08		76207393	58799123	37	37											
GRAMD1B	57476	broad.mit.edu	37	11	123480517	123480517	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr11:123480517C>T	ENST00000529750.1	+	12	1570	c.1243C>T	c.(1243-1245)Cca>Tca	p.P415S	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P422S|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P415S|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.P106S	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	415						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P415S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CATCTTCCATCCATGGAAAAA	0.527																																																1	Substitution - Missense(1)	ovary(1)	11											47	50	49					11																	123480517		1905	4126	6031	122985727	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1243C>T	11.37:g.123480517C>T	ENSP00000436500:p.Pro415Ser		122985727	Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899462	0.91962	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764;ENST00000450171	T;T;T;T;T;T	0.50813	1.62;1.63;1.63;1.64;1.31;0.73	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.72353	2.195	0.80722	D	1	P;D;D;D;D	0.89917	0.768;0.985;1.0;0.999;0.974	B;P;D;P;P	0.87578	0.325;0.828;0.998;0.895;0.677	T	0.63373	-0.6652	10	0.28530	T	0.3	.	19.8471	0.96713	0.0:1.0:0.0:0.0	.	375;422;106;415;422	B7Z4N9;F5H572;Q3KR37-3;Q3KR37;E7EPH8	.;.;.;GRM1B_HUMAN;.	S	422;422;415;415;375;411;106	ENSP00000402457:P422S;ENSP00000325628:P415S;ENSP00000436500:P415S;ENSP00000432987:P375S;ENSP00000434214:P411S;ENSP00000388458:P106S	ENSP00000325628:P415S	P	+	1	0	GRAMD1B	122985727	1.000000	0.71417	0.412000	0.26496	0.945000	0.59286	7.765000	0.85310	2.688000	0.91661	0.655000	0.94253	CCA		0.527	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		T	123480517	C	T	123480517	3	4	1	1	0	0	0	0	1	0	0	0	6748	855	30	2	1289	2	GRAMD1B	11	123480517	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	47273124	123480517	11525999	38	38											
FEZ1	9638	broad.mit.edu	37	11	125359623	125359623	+	Silent	SNP	G	G	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr11:125359623G>C	ENST00000278919.3	-	2	285	c.51C>G	c.(49-51)ccC>ccG	p.P17P	FEZ1_ENST00000366139.3_Silent_p.P17P|FEZ1_ENST00000524435.1_Silent_p.P17P	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	17					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.P17P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CCGAGCAGGAGGGTCGAAGGT	0.527																																					Melanoma(180;509 2033 10762 15939 24711)											1	Substitution - coding silent(1)	ovary(1)	11											68	72	71					11																	125359623		2201	4299	6500	124864833	SO:0001819	synonymous_variant	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.51C>G	11.37:g.125359623G>C			124864833	O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	CCDS31716.1																																																																																				0.527	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		C	125359623	G	C	125359623	2	2	1	1	0	0	0	0	0	0	0	1	5823	987	35	3		3	FEZ1	11	125359623	Silent	SNP	G	TCGA-04-1331-01A-01W-0486-08	1879106	125359623	9646893	39	39											
CAPRIN2	65981	broad.mit.edu	37	12	30906458	30906458	+	Silent	SNP	C	C	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr12:30906458C>T	ENST00000395805.2	-	1	787	c.240G>A	c.(238-240)ggG>ggA	p.G80G	CAPRIN2_ENST00000251071.5_Silent_p.G80G|CAPRIN2_ENST00000417045.1_Silent_p.G80G|CAPRIN2_ENST00000308433.5_5'UTR|RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000298892.5_Silent_p.G80G	NM_001206856.1	NP_001193785.1			caprin family member 2									p.G80G(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACTTCATATTCCCCTCTCTTT	0.537											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	12											162	155	157					12																	30906458		2203	4300	6503	30797725	SO:0001819	synonymous_variant	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.240G>A	12.37:g.30906458C>T		820	30797725		Silent	SNP	ENST00000395805.2	37	CCDS55816.1																																																																																				0.537	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		T	30906458	C	T	30906458	2	4	1	1	0	0	0	0	0	0	0	1	2636	842	30	2		2	CAPRIN2	12	30906458	Silent	SNP	C	TCGA-04-1331-01A-01W-0486-08		30906458	102945437	40	40											
KRT6A	3853	broad.mit.edu	37	12	52884933	52884933	+	Missense_Mutation	SNP	C	C	T	rs376821206		TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr12:52884933C>T	ENST00000330722.6	-	3	847	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	260	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.R260H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTGCTGTGCGCTTGTTGAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	12						C	HIS/ARG	0,4404		0,0,2202	72	67	69		779	5.1	1	12		69	1,8561	1.2+/-3.3	0,1,4280	no	missense	KRT6A	NM_005554.3	29	0,1,6482	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	260/565	52884933	1,12965	2202	4281	6483	51171200	SO:0001583	missense	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.779G>A	12.37:g.52884933C>T	ENSP00000369317:p.Arg260His		51171200	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	27.0	4.794489	0.90453	0.0	1.17E-4	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.89939	-2.59	5.14	5.14	0.70334	Filament (1);	0.000000	0.56097	D	0.000022	D	0.92466	0.7608	M	0.87547	2.89	0.50632	D	0.999882	P	0.51653	0.947	P	0.48982	0.597	D	0.93679	0.6997	10	0.66056	D	0.02	.	16.0286	0.80560	0.0:0.8657:0.1343:0.0	.	260	P02538	K2C6A_HUMAN	H	260;216	ENSP00000369317:R260H	ENSP00000369317:R260H	R	-	2	0	KRT6A	51171200	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.937000	0.70162	2.550000	0.86006	0.555000	0.69702	CGC		0.458	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		T	52884933	C	T	52884933	3	4	1	1	0	0	0	0	1	0	0	0	8480	768	27	1	943	1	KRT6A	12	52884933	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	21978475	52884933	80966962	41	41											
CSAD	51380	broad.mit.edu	37	12	53553935	53553935	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr12:53553935G>A	ENST00000444623.1	-	14	1402	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	CSAD_ENST00000453446.2_Missense_Mutation_p.R379W|CSAD_ENST00000267085.4_Missense_Mutation_p.R406W|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379843.3_Missense_Mutation_p.R232W|CSAD_ENST00000379846.1_Missense_Mutation_p.R232W	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	379					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.R379W(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	TCGATGCGCCGCTCCAGCCCT	0.657											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(109;252 1546 16882 28524 44645)											1	Substitution - Missense(1)	ovary(1)	12											96	85	89					12																	53553935		2203	4300	6503	51840202	SO:0001583	missense	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1135C>T	12.37:g.53553935G>A	ENSP00000415485:p.Arg379Trp	993	51840202	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.833|9.833	1.189033|1.189033	0.21954|0.21954	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000379850|ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	.|T;T;T;T;T	.|0.39997	.|1.05;1.05;1.05;1.05;1.05	4.67|4.67	3.77|3.77	0.43336|0.43336	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|1.166190	.|0.06061	.|N	.|0.658452	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.58583|0.58583	1.82|1.82	0.48087|0.48087	D|D	0.999582|0.999582	.|B;B;B	.|0.23540	.|0.005;0.002;0.087	.|B;B;B	.|0.17979	.|0.002;0.002;0.02	T|T	0.37337|0.37337	-0.9710|-0.9710	5|10	.|0.66056	.|D	.|0.02	-1.8474|-1.8474	7.6902|7.6902	0.28563|0.28563	0.0862:0.0:0.7527:0.1611|0.0862:0.0:0.7527:0.1611	.|.	.|406;379;232	.|Q9Y600-3;Q9Y600;Q9Y600-2	.|.;CSAD_HUMAN;.	V|W	404|468;232;406;232;379;340;379	.|ENSP00000369172:R232W;ENSP00000267085:R406W;ENSP00000369175:R232W;ENSP00000415485:R379W;ENSP00000410648:R379W	.|ENSP00000267085:R406W	A|R	-|-	2|1	0|2	CSAD|CSAD	51840202|51840202	0.203000|0.203000	0.23435|0.23435	0.832000|0.832000	0.32986|0.32986	0.097000|0.097000	0.18754|0.18754	1.102000|1.102000	0.31050|0.31050	1.305000|1.305000	0.44909|0.44909	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.657	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		A	53553935	G	A	53553935	3	1	1	1	0	0	0	0	1	0	0	0	3925	1086	38	1	362	1	CSAD	12	53553935	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	669002	53553935	80297960	42	42											
DDIT3	1649	broad.mit.edu	37	12	57911116	57911116	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr12:57911116A>C	ENST00000346473.3	-	3	253	c.74T>G	c.(73-75)cTg>cGg	p.L25R	DDIT3_ENST00000552740.1_Missense_Mutation_p.L48R|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000547303.1_Missense_Mutation_p.L25R|DDIT3_ENST00000551116.1_Missense_Mutation_p.L48R	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	25	N-terminal.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L25R(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						GACCTCTTGCAGGTCCTCATA	0.498			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)		Dom	yes		12	12q13.1-q13.2	1649	DNA-damage-inducible transcript 3		M	1	Substitution - Missense(1)	ovary(1)	12											65	59	61					12																	57911116		2203	4300	6503	56197383	SO:0001583	missense	1649			BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"C/EBP zeta"	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.74T>G	12.37:g.57911116A>C	ENSP00000340671:p.Leu25Arg		56197383	F8VS99	Missense_Mutation	SNP	ENST00000346473.3	37	CCDS8943.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.288084	0.80803	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740;ENST00000547526	T;T;T;T	0.70045	-0.36;-0.45;-0.36;-0.45	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.74215	0.3687	L	0.36672	1.1	0.52099	D	0.999945	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.77159	-0.2690	10	0.87932	D	0	-2.6048	14.1539	0.65405	1.0:0.0:0.0:0.0	.	48;25	F8VS99;P35638	.;DDIT3_HUMAN	R	25;48;25;48;48	ENSP00000447188:L25R;ENSP00000448665:L48R;ENSP00000340671:L25R;ENSP00000447803:L48R	ENSP00000340671:L25R	L	-	2	0	DDIT3	56197383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.141000	0.89618	2.240000	0.73641	0.533000	0.62120	CTG		0.498	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		C	57911116	A	C	57911116	3	2	1	1	0	0	0	0	1	0	0	0	4330	188	7	5	443	5	DDIT3	12	57911116	Missense_Mutation	SNP	A	TCGA-04-1331-01A-01W-0486-08	4357181	57911116	75940779	43	43											
C12orf49	79794	broad.mit.edu	37	12	117158152	117158152	+	Silent	SNP	G	G	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr12:117158152G>A	ENST00000261318.3	-	3	529	c.369C>T	c.(367-369)ggC>ggT	p.G123G	C12orf49_ENST00000536380.1_Silent_p.G93G|C12orf49_ENST00000548356.1_5'Flank	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	123	Cys-rich.					extracellular region (GO:0005576)		p.G123G(1)		endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		CGCTGCAGCAGCCGTTGGGCC	0.552																																																1	Substitution - coding silent(1)	ovary(1)	12											102	89	94					12																	117158152		2203	4300	6503	115642535	SO:0001819	synonymous_variant	79794			AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.369C>T	12.37:g.117158152G>A			115642535	Q53GE8	Silent	SNP	ENST00000261318.3	37	CCDS9179.1																																																																																				0.552	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	NM_024738		A	117158152	G	A	117158152	2	1	1	1	0	0	0	0	0	0	0	1	1693	958	34	2		2	C12orf49	12	117158152	Silent	SNP	G	TCGA-04-1331-01A-01W-0486-08	59247036	117158152	16693743	44	44											
BRCA2	675	broad.mit.edu	37	13	32910625	32910625	+	Nonsense_Mutation	SNP	C	C	A	rs535547513	byFrequency	TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr13:32910625C>A	ENST00000380152.3	+	11	2366	c.2133C>A	c.(2131-2133)tgC>tgA	p.C711*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.C711*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	711	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.C711*(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCTGTCATGCCTGCAGGAAG	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	1	Substitution - Nonsense(1)	ovary(1)	13											54	57	56					13																	32910625		2203	4300	6503	31808625	SO:0001587	stop_gained	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2133C>A	13.37:g.32910625C>A	ENSP00000369497:p.Cys711*		31808625	O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025060	0.93518	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.58	0.395	0.16304	.	1.186530	0.05852	N	0.621294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	7.935	0.29925	0.0:0.6087:0.1847:0.2066	.	.	.	.	X	711	.	ENSP00000369497:C711X	C	+	3	2	BRCA2	31808625	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.310000	0.19356	0.064000	0.16427	-1.094000	0.02160	TGC		0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		A	32910625	C	A	32910625	4	1	1	1	0	0	0	0	0	1	0	0	1499	747	26	3	2171	3	BRCA2	13	32910625	Nonsense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08		32910625	82259253	45	45											
ABHD13	84945	broad.mit.edu	37	13	108882235	108882235	+	Silent	SNP	A	A	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr13:108882235A>G	ENST00000375898.3	+	2	970	c.669A>G	c.(667-669)ccA>ccG	p.P223P		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	223						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.P223P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TAAGCATACCACATATGGCCA	0.388																																					Pancreas(22;506 789 38166 45896 51596)											1	Substitution - coding silent(1)	ovary(1)	13											121	119	119					13																	108882235		2203	4300	6503	107680236	SO:0001819	synonymous_variant	84945			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"Abhydrolase domain containing"	20293	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 6"	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.669A>G	13.37:g.108882235A>G			107680236	B3KWE7|Q8NBW1|Q96JX9	Silent	SNP	ENST00000375898.3	37	CCDS32007.1																																																																																				0.388	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		G	108882235	A	G	108882235	2	3	1	1	0	0	0	0	0	0	0	1	78	146	6	4		4	ABHD13	13	108882235	Silent	SNP	A	TCGA-04-1331-01A-01W-0486-08	75971610	108882235	6287643	46	46											
CPSF2	53981	broad.mit.edu	37	14	92621554	92621554	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr14:92621554G>T	ENST00000298875.4	+	11	1614	c.1329G>T	c.(1327-1329)atG>atT	p.M443I		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	443					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.M443I(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ACTTGATGATGAAAGGTGAAG	0.398																																					Ovarian(78;28 1788 18702 44111)											1	Substitution - Missense(1)	ovary(1)	14											115	104	108					14																	92621554		2203	4300	6503	91691307	SO:0001583	missense	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1329G>T	14.37:g.92621554G>T	ENSP00000298875:p.Met443Ile		91691307	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	CCDS9902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.555486|2.555486	0.45487|0.45487	.|.	.|.	ENSG00000165934|ENSG00000165934	ENST00000298875|ENST00000555244	T|.	0.41400|.	1.0|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.55545|.	0.1927|.	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.08055|.	0.003|.	T|.	0.48163|.	-0.9059|.	10|.	0.37606|.	T|.	0.19|.	.|.	20.0745|20.0745	0.97737|0.97737	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	443|.	Q9P2I0|.	CPSF2_HUMAN|.	I|L	443|11	ENSP00000298875:M443I|.	ENSP00000298875:M443I|.	M|X	+|+	3|2	0|2	CPSF2|CPSF2	91691307|91691307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.613000|9.613000	0.98350|0.98350	2.748000|2.748000	0.94277|0.94277	0.462000|0.462000	0.41574|0.41574	ATG|TGA		0.398	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			T	92621554	G	T	92621554	3	4	1	1	0	0	0	0	1	0	0	0	3825	1290	45	3	1363	3	CPSF2	14	92621554	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08		92621554	14727986	47	47											
AHNAK2	113146	broad.mit.edu	37	14	105420500	105420500	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr14:105420500C>G	ENST00000333244.5	-	7	1407	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	430						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E430Q(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTGCTGTCTCCTGTGCCTGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	14											50	55	53					14																	105420500		2028	4174	6202	104491545	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1288G>C	14.37:g.105420500C>G	ENSP00000353114:p.Glu430Gln		104491545	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	16.09	3.024810	0.54683	.	.	ENSG00000185567	ENST00000333244	T	0.05717	3.4	4.5	0.937	0.19494	.	.	.	.	.	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	B	0.24823	0.112	B	0.20184	0.028	T	0.43686	-0.9376	9	0.36615	T	0.2	.	4.9838	0.14180	0.0:0.3356:0.4191:0.2453	.	430	Q8IVF2	AHNK2_HUMAN	Q	430	ENSP00000353114:E430Q	ENSP00000353114:E430Q	E	-	1	0	AHNAK2	104491545	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.294000	0.19047	0.415000	0.25817	0.555000	0.69702	GAG		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105420500	C	G	105420500	3	3	1	1	0	0	0	0	1	0	0	0	415	864	30	3	16103	3	AHNAK2	14	105420500	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	12798946	105420500	1929040	48	48											
NEDD4	4734	broad.mit.edu	37	15	56208548	56208548	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr15:56208548G>T	ENST00000508342.1	-	1	781	c.482C>A	c.(481-483)tCt>tAt	p.S161Y	NEDD4_ENST00000506154.1_Missense_Mutation_p.S161Y|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.S161Y	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	161	Ser-rich.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.S161Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GCTGCTGTAAGACCCATTATC	0.403																																																1	Substitution - Missense(1)	ovary(1)	15											155	139	145					15																	56208548		2193	4292	6485	53995840	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.482C>A	15.37:g.56208548G>T	ENSP00000424827:p.Ser161Tyr		53995840	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.	.	.	.	.	.	.	.	.	.	G	18.91	3.723016	0.68959	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.51574	0.7;0.7;0.7	5.17	5.17	0.71159	.	286.185000	0.00166	N	0.000000	T	0.66858	0.2832	L	0.34521	1.04	0.30523	N	0.768271	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.994;0.997	T	0.63229	-0.6684	10	0.51188	T	0.08	.	18.0099	0.89220	0.0:0.0:1.0:0.0	.	161;161;161	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	Y	161	ENSP00000424827:S161Y;ENSP00000345530:S161Y;ENSP00000422705:S161Y	ENSP00000345530:S161Y	S	-	2	0	NEDD4	53995840	1.000000	0.71417	0.991000	0.47740	0.918000	0.54935	5.366000	0.66122	2.585000	0.87301	0.591000	0.81541	TCT		0.403	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		T	56208548	G	T	56208548	3	4	1	1	0	0	0	0	1	0	0	0	10310	942	33	3	3577	3	NEDD4	15	56208548	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08		56208548	46322844	49	49											
CA12	771	broad.mit.edu	37	15	63634277	63634277	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr15:63634277T>G	ENST00000178638.3	-	5	889	c.449A>C	c.(448-450)aAc>aCc	p.N150T	CA12_ENST00000344366.3_Missense_Mutation_p.N150T|CA12_ENST00000422263.2_Missense_Mutation_p.N90T	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	150					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.N150T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	AAGGTCTGAGTTATAATGGAC	0.498																																																1	Substitution - Missense(1)	ovary(1)	15											74	60	65					15																	63634277		2203	4300	6503	61421330	SO:0001583	missense	771			AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.449A>C	15.37:g.63634277T>G	ENSP00000178638:p.Asn150Thr		61421330	B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.436368	0.83885	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.72051	-0.62;-0.62;-0.62	5.3	5.3	0.74995	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.89810	0.3981	10	0.87932	D	0	.	14.0751	0.64885	0.0:0.0:0.0:1.0	.	90;150;150	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	T	150;150;90	ENSP00000178638:N150T;ENSP00000343088:N150T;ENSP00000403028:N90T	ENSP00000178638:N150T	N	-	2	0	CA12	61421330	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.538000	0.82048	1.999000	0.58509	0.533000	0.62120	AAC		0.498	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		G	63634277	T	G	63634277	3	3	1	1	0	0	0	0	1	0	0	0	2513	1725	60	5	643	5	CA12	15	63634277	Missense_Mutation	SNP	T	TCGA-04-1331-01A-01W-0486-08	7425729	63634277	38897115	50	50											
C15orf42	90381	broad.mit.edu	37	15	90145047	90145047	+	Missense_Mutation	SNP	G	G	A	rs115860712	byFrequency	TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr15:90145047G>A	ENST00000268138.7	+	12	2512	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I	TICRR_ENST00000560985.1_Missense_Mutation_p.V802I			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	803					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.V803I(1)									GCTGGCTGGTGTCCTTCCTAC	0.423													G|||	12	0.00239617	0.0076	0.0014	5008	,	,		20047	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	15						G	ILE/VAL	54,3752		0,54,1849	170	159	163		2407	4.8	1	15	dbSNP_132	163	1,8249		0,1,4124	yes	missense	C15orf42	NM_152259.3	29	0,55,5973	AA,AG,GG		0.0121,1.4188,0.4562	possibly-damaging	803/1911	90145047	55,12001	1903	4125	6028	87946051	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2407G>A	15.37:g.90145047G>A	ENSP00000268138:p.Val803Ile		87946051	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	5	0.0022893772893772895	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	16.88	3.245726	0.59103	0.014188	1.21E-4	ENSG00000140534	ENST00000268138	T	0.17691	2.26	5.76	4.83	0.62350	.	0.270122	0.34959	N	0.003551	T	0.13030	0.0316	L	0.47190	1.495	0.38114	D	0.93765	P	0.41450	0.75	B	0.39152	0.292	T	0.02437	-1.1159	10	0.49607	T	0.09	-11.6649	15.7201	0.77700	0.0686:0.0:0.9314:0.0	.	803	Q7Z2Z1	TICRR_HUMAN	I	803	ENSP00000268138:V803I	ENSP00000268138:V803I	V	+	1	0	C15orf42	87946051	1.000000	0.71417	0.963000	0.40424	0.999000	0.98932	4.013000	0.57138	2.882000	0.98803	0.655000	0.94253	GTC		0.423	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		A	90145047	G	A	90145047	3	1	1	1	0	0	0	0	1	0	0	0	1796	1377	48	2	2453	2	C15orf42	15	90145047	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	26510770	90145047	12386345	51	51											
SELS	55829	broad.mit.edu	37	15	101812979	101812979	+	Silent	SNP	G	G	C			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr15:101812979G>C	ENST00000398226.3	-	6	599	c.567C>G	c.(565-567)ggC>ggG	p.G189G	VIMP_ENST00000531964.1_Silent_p.G166G|VIMP_ENST00000526049.1_Silent_p.G189G|VIMP_ENST00000537379.1_3'UTR			Q9BQE4	SELS_HUMAN	VCP-interacting membrane protein	189					cell redox homeostasis (GO:0045454)|cellular response to insulin stimulus (GO:0032869)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oxidative stress (GO:0034599)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of tumor necrosis factor production (GO:0032720)|regulation of gluconeogenesis (GO:0006111)|regulation of nitric oxide metabolic process (GO:0080164)|response to glucose (GO:0009749)|response to redox state (GO:0051775)|retrograde protein transport, ER to cytosol (GO:0030970)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|selenium binding (GO:0008430)	p.G189G(1)									AAGATTCTTAGCCTCATCCGC	0.517																																																1	Substitution - coding silent(1)	ovary(1)	15											38	41	40					15																	101812979		1957	4159	6116	99630502	SO:0001819	synonymous_variant	55829			AF328864	CCDS53979.1	15q26.3	2012-10-02			ENSG00000131871	ENSG00000131871			30396	protein-coding gene	gene with protein product	"selenoprotein S"	607918				16227999, 16186510	Standard	NM_018445		Approved	SELS, MGC2553, SBBI8, AD-015, SEPS1	uc021sxu.1	Q9BQE4	OTTHUMG00000166441	ENST00000398226.3:c.567C>G	15.37:g.101812979G>C			99630502	Q3B771|Q9P0I6	Silent	SNP	ENST00000398226.3	37	CCDS53979.1																																																																																				0.517	VIMP-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389784.2	NM_018445		C	101812979	G	C	101812979	2	2	1	1	0	0	0	0	0	0	0	1	14024	958	34	3		3	SELS	15	101812979	Silent	SNP	G	TCGA-04-1331-01A-01W-0486-08	11667932	101812979	718413	52	52											
CCDC102A	92922	broad.mit.edu	37	16	57559891	57559891	+	Missense_Mutation	SNP	G	G	T	rs563952674		TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr16:57559891G>T	ENST00000258214.2	-	3	980	c.734C>A	c.(733-735)aCg>aAg	p.T245K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	245								p.T245K(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTCCTCCTCCGTGGCAGCTGT	0.716																																																1	Substitution - Missense(1)	ovary(1)	16											33	28	30					16																	57559891		2198	4300	6498	56117392	SO:0001583	missense	92922			BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.734C>A	16.37:g.57559891G>T	ENSP00000258214:p.Thr245Lys		56117392	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	G	1.394	-0.580037	0.03854	.	.	ENSG00000135736	ENST00000258214	T	0.42513	0.97	5.15	1.44	0.22558	.	1.007110	0.07968	N	0.983485	T	0.21550	0.0519	N	0.19112	0.55	0.09310	N	1	B	0.15719	0.014	B	0.15484	0.013	T	0.29058	-1.0024	10	0.06365	T	0.9	-9.0099	3.6057	0.08042	0.4979:0.2047:0.2974:0.0	.	245	Q96A19	C102A_HUMAN	K	245	ENSP00000258214:T245K	ENSP00000258214:T245K	T	-	2	0	CCDC102A	56117392	0.000000	0.05858	0.018000	0.16275	0.867000	0.49689	1.097000	0.30988	0.591000	0.29711	-0.362000	0.07510	ACG		0.716	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		T	57559891	G	T	57559891	3	4	1	1	0	0	0	0	1	0	0	0	2736	1145	40	3	946	3	CCDC102A	16	57559891	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08		57559891	32794862	53	53											
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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"	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	17	GRCh37	CM971506	TP53	M	rs121913344						120	106	110					17																	7577022		2203	4300	6503	7517747	SO:0001587	stop_gained	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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		7517747	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577022	G	A	7577022	4	1	1	1	0	0	0	0	0	1	0	0	16381	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08		7577022	73618188	54	54											
NF1	4763	broad.mit.edu	37	17	29585518	29585518	+	Missense_Mutation	SNP	A	A	G	rs137854550		TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr17:29585518A>G	ENST00000358273.4	+	32	4713	c.4330A>G	c.(4330-4332)Aag>Gag	p.K1444E	NF1_ENST00000356175.3_Missense_Mutation_p.K1423E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1444	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.		K -> E (in NF1 and NFNS; significant reduction of intrinsic GAP activity; dbSNP:rs137854550). {ECO:0000269|PubMed:11857752, ECO:0000269|PubMed:1568247, ECO:0000269|PubMed:16380919, ECO:0000269|PubMed:9003501}.|K -> N (in NF1; dbSNP:rs199474750). {ECO:0000269|PubMed:12552569, ECO:0000269|PubMed:15146469}.|K -> R (in NF1; dbSNP:rs199474781). {ECO:0000269|PubMed:11735023}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)|p.K1444E(3)|p.K1444Q(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTAATGTCAAAGGTGAATTA	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	17	Whole gene deletion(8)|Unknown(5)|Substitution - Missense(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	17	GRCh37	CM920506	NF1	M	rs137854550						52	49	50					17																	29585518		2203	4299	6502	26609644	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4330A>G	17.37:g.29585518A>G	ENSP00000351015:p.Lys1444Glu		26609644	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	32	5.123099	0.94429	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.90844	-2.74;-2.74;-2.74	6.02	6.02	0.97574	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.97238	0.9097	H	0.97852	4.09	0.80722	A	1	D;D;D	0.89917	1.0;0.974;0.998	D;D;D	0.91635	0.999;0.969;0.997	D	0.98561	1.0641	9	0.87932	D	0	.	15.1131	0.72375	1.0:0.0:0.0:0.0	.	473;1423;1444	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	E	1444;1423;1089	ENSP00000351015:K1444E;ENSP00000348498:K1423E;ENSP00000389907:K1089E	ENSP00000348498:K1423E	K	+	1	0	NF1	26609644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.304000	0.77564	0.528000	0.53228	AAG		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		G	29585518	A	G	29585518	3	3	1	1	0	0	0	0	1	0	0	0	10356	15	1	4	4517	4	NF1	17	29585518	Missense_Mutation	SNP	A	TCGA-04-1331-01A-01W-0486-08	22008496	29585518	51609692	55	55											
EMILIN2	84034	broad.mit.edu	37	18	2890859	2890859	+	Missense_Mutation	SNP	C	C	A	rs200574377		TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr18:2890859C>A	ENST00000254528.3	+	4	893	c.734C>A	c.(733-735)aCg>aAg	p.T245K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	245					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.T245K(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GACACAGAAACGGGCCAGAGT	0.502																																																1	Substitution - Missense(1)	ovary(1)	18											54	60	58					18																	2890859		2203	4300	6503	2880859	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.734C>A	18.37:g.2890859C>A	ENSP00000254528:p.Thr245Lys		2880859	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249647	0.22880	.	.	ENSG00000132205	ENST00000254528	T	0.36157	1.27	5.41	1.68	0.24146	.	0.627640	0.15689	N	0.249510	T	0.33673	0.0871	M	0.68952	2.095	0.09310	N	1	P	0.46621	0.881	P	0.49140	0.601	T	0.25847	-1.0120	10	0.05959	T	0.93	-4.1037	2.9721	0.05926	0.1115:0.5175:0.1087:0.2624	.	245	Q9BXX0	EMIL2_HUMAN	K	245	ENSP00000254528:T245K	ENSP00000254528:T245K	T	+	2	0	EMILIN2	2880859	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.188000	0.03064	0.024000	0.15214	-0.226000	0.12346	ACG		0.502	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		A	2890859	C	A	2890859	3	1	1	1	0	0	0	0	1	0	0	0	5094	536	19	3	748	3	EMILIN2	18	2890859	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08		2890859	75186389	56	56											
MIB1	57534	broad.mit.edu	37	18	19353583	19353589	+	Splice_Site	DEL	AGGTAAC	AGGTAAC	-			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	AGGTAAC	AGGTAAC	-	-	AGGTAAC	AGGTAAC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr18:19353583_19353589delAGGTAAC	ENST00000261537.6	+	4	795_800	c.531_536delAGGTAAC	c.(529-537)aaaggtaac>aac	p.KG177fs	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	177	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTATTCTGTTAGGTAACAGAAATCCAG	0.377																																																1	Unknown(1)	ovary(1)	18																																								17607587	SO:0001630	splice_region_variant	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.532-1AGGTAAC>-	18.37:g.19353583_19353589delAGGTAAC			17607581	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Splice_Site	DEL	ENST00000261537.6	37	CCDS11871.1																																																																																				0.377	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	Frame_Shift_Del	-	19353589	AGGTAAC	-	19353583	8	5	1	1	0	1	0	1	0	0	1	0	9566	434	15	0	544	0	MIB1	18	19353583	Splice_Site	DEL	AGGTAAC	TCGA-04-1331-01A-01W-0486-08	16462724	19353583	58723665	57	57											
DSEL	92126	broad.mit.edu	37	18	65178448	65178448	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr18:65178448A>T	ENST00000310045.7	-	2	4901	c.3428T>A	c.(3427-3429)tTt>tAt	p.F1143Y	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1133					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.F1143Y(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTCTGAGGAAAATGCACAAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	18											54	53	53					18																	65178448		2203	4300	6503	63329428	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3428T>A	18.37:g.65178448A>T	ENSP00000310565:p.Phe1143Tyr		63329428	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088729	0.36855	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.21932	1.98	4.79	2.2	0.27929	Sulfotransferase domain (1);	0.377447	0.24298	U	0.039750	T	0.11452	0.0279	L	0.40543	1.245	0.27984	N	0.935931	B	0.06786	0.001	B	0.13407	0.009	T	0.35724	-0.9777	10	0.02654	T	1	-6.7002	4.1187	0.10095	0.6872:0.0:0.1622:0.1506	.	1133	Q8IZU8	DSEL_HUMAN	Y	1143;1133	ENSP00000310565:F1143Y	ENSP00000310565:F1143Y	F	-	2	0	DSEL	63329428	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.728000	0.38105	0.785000	0.33685	0.460000	0.39030	TTT		0.388	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		T	65178448	A	T	65178448	3	4	1	1	0	0	0	0	1	0	0	0	4775	14	1	5	244	5	DSEL	18	65178448	Missense_Mutation	SNP	A	TCGA-04-1331-01A-01W-0486-08	45824865	65178448	12898800	58	58											
DSEL	92126	broad.mit.edu	37	18	65181739	65181739	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chr18:65181739G>A	ENST00000310045.7	-	2	1610	c.137C>T	c.(136-138)aCa>aTa	p.T46I	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	36					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.T46I(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TATATCATCTGTGAAAACTGC	0.333																																																1	Substitution - Missense(1)	ovary(1)	18											101	96	97					18																	65181739		2203	4300	6503	63332719	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.137C>T	18.37:g.65181739G>A	ENSP00000310565:p.Thr46Ile		63332719	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.615076	0.46631	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.23950	1.88	4.87	3.99	0.46301	.	0.217217	0.36234	U	0.002717	T	0.17534	0.0421	L	0.27053	0.805	0.30691	N	0.751343	B	0.02656	0.0	B	0.04013	0.001	T	0.08046	-1.0741	10	0.42905	T	0.14	-2.5467	9.9923	0.41879	0.1782:0.0:0.8218:0.0	.	36	Q8IZU8	DSEL_HUMAN	I	46;36	ENSP00000310565:T46I	ENSP00000310565:T46I	T	-	2	0	DSEL	63332719	1.000000	0.71417	0.609000	0.28983	0.891000	0.51852	5.403000	0.66338	1.059000	0.40554	0.561000	0.74099	ACA		0.333	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		A	65181739	G	A	65181739	3	1	1	1	0	0	0	0	1	0	0	0	4775	1377	48	2	3535	2	DSEL	18	65181739	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	3291	65181739	12895509	59	59											
FAM47C	442444	broad.mit.edu	37	X	37028941	37028941	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chrX:37028941G>A	ENST00000358047.3	+	1	2510	c.2458G>A	c.(2458-2460)Gga>Aga	p.G820R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	820								p.G820R(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TACCAAGACCGGAGCGTCCCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											62	61	61					X																	37028941		2202	4300	6502	36938862	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2458G>A	X.37:g.37028941G>A	ENSP00000367913:p.Gly820Arg		36938862	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	1.187	-0.636355	0.03557	.	.	ENSG00000198173	ENST00000358047	T	0.12879	2.64	0.14	0.14	0.14804	.	.	.	.	.	T	0.04452	0.0122	N	0.05383	-0.06	0.09310	N	1	P	0.44139	0.827	B	0.34452	0.183	T	0.34976	-0.9807	8	0.13853	T	0.58	.	.	.	.	.	820	Q5HY64	FA47C_HUMAN	R	820	ENSP00000367913:G820R	ENSP00000367913:G820R	G	+	1	0	FAM47C	36938862	0.019000	0.18553	0.005000	0.12908	0.005000	0.04900	-0.349000	0.07731	0.168000	0.19655	0.169000	0.16792	GGA		0.552	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37028941	G	A	37028941	3	1	1	1	0	0	0	0	1	0	0	0	5571	1117	39	1	2460	1	FAM47C	23	37028941	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08		37028941	118241619	60	60											
KDM5C	8242	broad.mit.edu	37	X	53226114	53226114	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chrX:53226114C>T	ENST00000375401.3	-	19	3267	c.2735G>A	c.(2734-2736)gGg>gAg	p.G912E	KDM5C_ENST00000452825.3_Missense_Mutation_p.G845E|KDM5C_ENST00000375383.3_Missense_Mutation_p.G871E|KDM5C_ENST00000375379.3_Missense_Mutation_p.G912E|KDM5C_ENST00000404049.3_Missense_Mutation_p.G911E	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	912					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.G912E(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CACCTCCACCCCCAGCTGCCG	0.692			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Substitution - Missense(1)	ovary(1)	X											23	20	21					X																	53226114		2198	4288	6486	53242839	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2735G>A	X.37:g.53226114C>T	ENSP00000364550:p.Gly912Glu		53242839	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946057	0.34377	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.44	4.44	0.53790	Lysine-specific demethylase-like domain (1);	0.277555	0.33854	U	0.004481	T	0.41050	0.1142	M	0.65975	2.015	0.19575	N	0.999961	B;B;B	0.33345	0.409;0.254;0.146	B;B;B	0.36186	0.211;0.219;0.219	T	0.31223	-0.9951	10	0.30078	T	0.28	-5.6249	9.9425	0.41589	0.0:0.7972:0.2028:0.0	.	845;911;912	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	E	845;912;911;912;871	ENSP00000445176:G845E;ENSP00000364550:G912E;ENSP00000385394:G911E;ENSP00000364528:G912E;ENSP00000364532:G871E	ENSP00000364528:G912E	G	-	2	0	KDM5C	53242839	0.211000	0.23529	0.965000	0.40720	0.995000	0.86356	2.058000	0.41374	1.821000	0.53095	0.594000	0.82650	GGG		0.692	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		T	53226114	C	T	53226114	3	4	1	1	0	0	0	0	1	0	0	0	8135	623	22	2	2077	2	KDM5C	23	53226114	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	16197173	53226114	102044446	61	61											
FGD1	2245	broad.mit.edu	37	X	54473872	54473872	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chrX:54473872C>A	ENST00000375135.3	-	17	3185	c.2452G>T	c.(2452-2454)Gct>Tct	p.A818S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	818					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A818S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTCTCTGCAGCCACTGAGGCC	0.542																																																1	Substitution - Missense(1)	ovary(1)	X											68	41	50					X																	54473872		2203	4299	6502	54490597	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2452G>T	X.37:g.54473872C>A	ENSP00000364277:p.Ala818Ser		54490597	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635482	0.29068	.	.	ENSG00000102302	ENST00000375135	T	0.11063	2.81	5.33	5.33	0.75918	.	0.000000	0.49305	D	0.000144	T	0.07999	0.0200	N	0.19112	0.55	0.36717	D	0.880992	B	0.19935	0.04	B	0.20384	0.029	T	0.17868	-1.0355	10	0.08599	T	0.76	-6.4557	16.8048	0.85623	0.0:1.0:0.0:0.0	.	818	P98174	FGD1_HUMAN	S	818	ENSP00000364277:A818S	ENSP00000364277:A818S	A	-	1	0	FGD1	54490597	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.136000	0.42121	2.229000	0.72834	0.529000	0.55759	GCT		0.542	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		A	54473872	C	A	54473872	3	1	1	1	0	0	0	0	1	0	0	0	5832	739	26	3	441	3	FGD1	23	54473872	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	1247758	54473872	100796688	62	62											
FAAH2	158584	broad.mit.edu	37	X	57358060	57358060	+	Missense_Mutation	SNP	C	C	T	rs141132166		TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chrX:57358060C>T	ENST00000374900.4	+	4	562	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	148						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.R148C(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ACTCATGAACCGTCGTGATGC	0.413										HNSCC(52;0.14)			.|||	6	0.0015894	0	0	3775	,	,		14541	0		0	False		,,,				2504	0.0061															1	Substitution - Missense(1)	ovary(1)	X						C	CYS/ARG	2,3833		0,2,1630,571	101	83	89		442	1.5	0.5	X	dbSNP_134	89	0,6728		0,0,2428,1872	no	missense	FAAH2	NM_174912.3	180	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	probably-damaging	148/533	57358060	2,10561	2203	4300	6503	57374785	SO:0001583	missense	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.442C>T	X.37:g.57358060C>T	ENSP00000364035:p.Arg148Cys		57374785	Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467716	0.26335	5.22E-4	0.0	ENSG00000165591	ENST00000374900	T	0.64260	-0.09	2.38	1.49	0.22878	Amidase signature domain (2);	0.000000	0.64402	U	0.000001	T	0.80352	0.4607	M	0.93808	3.46	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.77670	-0.2501	10	0.72032	D	0.01	.	6.7878	0.23683	0.0:0.8359:0.0:0.1641	.	148	Q6GMR7	FAAH2_HUMAN	C	148	ENSP00000364035:R148C	ENSP00000364035:R148C	R	+	1	0	FAAH2	57374785	0.995000	0.38212	0.534000	0.28014	0.381000	0.30169	3.093000	0.50217	0.052000	0.16007	-0.322000	0.08575	CGT		0.413	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		T	57358060	C	T	57358060	3	4	1	1	0	0	0	0	1	0	0	0	5354	652	23	1	456	1	FAAH2	23	57358060	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	2884188	57358060	97912500	63	63											
ZDHHC15	158866	broad.mit.edu	37	X	74742742	74742742	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chrX:74742742C>T	ENST00000373367.3	-	1	348	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.V40I|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.V40I|ZDHHC15_ENST00000482827.1_5'UTR	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	40					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V40I(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGTTCAAAGACGTAGGCATAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	X											102	79	87					X																	74742742		2203	4300	6503	74659467	SO:0001583	missense	158866			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.118G>A	X.37:g.74742742C>T	ENSP00000362465:p.Val40Ile		74659467	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682271	0.88542	.	.	ENSG00000102383	ENST00000373367;ENST00000541184;ENST00000373361	T;T;T	0.77358	0.78;1.09;-1.09	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87904	0.6295	M	0.79926	2.475	0.80722	D	1	D;D;B	0.71674	0.998;0.995;0.123	D;P;B	0.75484	0.986;0.838;0.019	D	0.87504	0.2435	10	0.38643	T	0.18	-15.1225	15.6856	0.77409	0.0:1.0:0.0:0.0	.	40;40;40	Q96MV8-2;B3KVG7;Q96MV8	.;.;ZDH15_HUMAN	I	40	ENSP00000362465:V40I;ENSP00000445420:V40I;ENSP00000362459:V40I	ENSP00000362459:V40I	V	-	1	0	ZDHHC15	74659467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.395000	0.73228	2.300000	0.77407	0.529000	0.55759	GTC		0.562	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		T	74742742	C	T	74742742	3	4	1	1	0	0	0	0	1	0	0	0	17605	536	19	1	1019	1	ZDHHC15	23	74742742	Missense_Mutation	SNP	C	TCGA-04-1331-01A-01W-0486-08	17384682	74742742	80527818	64	64											
SYTL4	94121	broad.mit.edu	37	X	99941009	99941009	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chrX:99941009T>A	ENST00000372989.1	-	15	1758	c.1427A>T	c.(1426-1428)cAt>cTt	p.H476L	SYTL4_ENST00000454200.2_Missense_Mutation_p.H478L|SYTL4_ENST00000263033.5_Missense_Mutation_p.H476L|SYTL4_ENST00000276141.6_Missense_Mutation_p.H476L|SYTL4_ENST00000455616.1_Missense_Mutation_p.H476L|SYTL4_ENST00000372981.1_3'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	476					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.H476L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGGGAGGCAATGATCCAGTTT	0.458																																																1	Substitution - Missense(1)	ovary(1)	X											87	70	76					X																	99941009		2203	4298	6501	99827665	SO:0001583	missense	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1427A>T	X.37:g.99941009T>A	ENSP00000362080:p.His476Leu		99827665	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914513	0.72983	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	5.88	5.88	0.94601	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.345544	0.36101	N	0.002795	T	0.07773	0.0195	L	0.40543	1.245	0.52099	D	0.99994	P	0.43542	0.81	B	0.33620	0.167	T	0.33727	-0.9857	9	.	.	.	-19.5063	15.2041	0.73165	0.0:0.0:0.0:1.0	.	476	Q96C24	SYTL4_HUMAN	L	476;476;478;476;476	ENSP00000362080:H476L;ENSP00000390252:H476L;ENSP00000403556:H478L;ENSP00000276141:H476L;ENSP00000263033:H476L	.	H	-	2	0	SYTL4	99827665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.051000	0.76627	1.973000	0.57446	0.486000	0.48141	CAT		0.458	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		A	99941009	T	A	99941009	3	1	1	1	0	0	0	0	1	0	0	0	15485	1464	51	5	608	5	SYTL4	23	99941009	Missense_Mutation	SNP	T	TCGA-04-1331-01A-01W-0486-08	25198267	99941009	55329551	65	65											
ACTRT1	139741	broad.mit.edu	37	X	127185495	127185495	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1331-01A-01W-0486-08	TCGA-04-1331-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b759b279-fb23-4376-9b89-86b8274fd0bd	38a74c0c-56e7-4e30-b1ae-126cc846b656	g.chrX:127185495G>A	ENST00000371124.3	-	1	887	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	231						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R231C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGGCTCTTGCGTAGCTCTTTC	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											130	122	125					X																	127185495		2203	4300	6503	127013176	SO:0001583	missense	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.691C>T	X.37:g.127185495G>A	ENSP00000360165:p.Arg231Cys		127013176	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.138244	0.01742	.	.	ENSG00000123165	ENST00000371124	D	0.94650	-3.48	3.45	-6.89	0.01660	.	1.252160	0.05461	N	0.551277	D	0.86306	0.5901	L	0.28344	0.845	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.71272	-0.4642	10	0.87932	D	0	.	0.4575	0.00511	0.267:0.2136:0.2879:0.2314	.	231	Q8TDG2	ACTT1_HUMAN	C	231	ENSP00000360165:R231C	ENSP00000360165:R231C	R	-	1	0	ACTRT1	127013176	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.426000	0.02443	-2.944000	0.00296	-1.724000	0.00704	CGC		0.512	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		A	127185495	G	A	127185495	3	1	1	1	0	0	0	0	1	0	0	0	218	1145	40	1	443	1	ACTRT1	23	127185495	Missense_Mutation	SNP	G	TCGA-04-1331-01A-01W-0486-08	27244486	127185495	28085065	66	66											
EPHB2	2048	genome.wustl.edu	37	1	23191679	23191679	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr1:23191679C>G	ENST00000400191.3	+	5	1295	c.1277C>G	c.(1276-1278)tCt>tGt	p.S426C	EPHB2_ENST00000544305.1_Missense_Mutation_p.S426C|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.S426C|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000374630.3_Missense_Mutation_p.S426C|EPHB2_ENST00000374627.1_Missense_Mutation_p.S420C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	426	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.S426C(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGTTCGCCTCTGTGAACATC	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											114	98	103					1																	23191679		2203	4300	6503	23064266	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1277C>G	1.37:g.23191679C>G	ENSP00000383053:p.Ser426Cys		23064266	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.582680	0.86748	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	4.99	4.99	0.66335	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	M	0.88105	2.93	0.80722	D	1	B;D;P;P	0.56287	0.204;0.975;0.921;0.952	B;P;P;P	0.61201	0.05;0.687;0.687;0.885	T	0.80792	-0.1224	10	0.87932	D	0	.	17.0002	0.86380	0.0:1.0:0.0:0.0	.	426;426;444;426	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	C	426;426;426;426;426;420	ENSP00000444174:S426C;ENSP00000363761:S426C;ENSP00000383053:S426C;ENSP00000363763:S426C;ENSP00000363758:S420C	ENSP00000363755:S426C	S	+	2	0	EPHB2	23064266	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.579000	0.87056	0.462000	0.41574	TCT		0.597	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		G	23191679	C	G	23191679	3	3	2	1	0	0	0	0	1	0	0	0	5175	913	32	3	1295	3	EPHB2	1	23191679	Missense_Mutation	SNP	C	TCGA-04-1332-01A-01W-0488-09		23191679	226058942	1	67											
AP4B1	10717	genome.wustl.edu	37	1	114442771	114442771	+	Missense_Mutation	SNP	C	C	T	rs564262237	byFrequency	TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr1:114442771C>T	ENST00000369569.1	-	5	1149	c.869G>A	c.(868-870)cGt>cAt	p.R290H	AP4B1_ENST00000369566.3_Missense_Mutation_p.R197H|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.R122H|AP4B1_ENST00000256658.4_Missense_Mutation_p.R290H|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	290					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R290H(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGAGCTCACGGCTCTCTGA	0.448													C|||	2	0.000399361	0	0	5008	,	,		21041	0		0	False		,,,				2504	0.002															2	Substitution - Missense(2)	ovary(1)|endometrium(1)	1											75	82	80					1																	114442771		2203	4300	6503	114244294	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.869G>A	1.37:g.114442771C>T	ENSP00000358582:p.Arg290His		114244294	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887464	0.33348	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;2.63;1.76;1.76	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.046077	0.85682	D	0.000000	T	0.26738	0.0654	L	0.31065	0.9	0.58432	D	0.999994	B;P;D;P	0.89917	0.295;0.68;1.0;0.513	B;B;D;B	0.72075	0.19;0.19;0.976;0.069	T	0.02144	-1.1206	10	0.49607	T	0.09	.	12.2549	0.54619	0.0:0.9216:0.0:0.0784	.	197;122;290;191	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	H	122;290;290;197;215;122	ENSP00000358580:R122H;ENSP00000358582:R290H;ENSP00000256658:R290H;ENSP00000358579:R197H;ENSP00000358577:R215H;ENSP00000393622:R122H	ENSP00000256658:R290H	R	-	2	0	AP4B1	114244294	1.000000	0.71417	0.842000	0.33263	0.741000	0.42261	4.392000	0.59659	2.520000	0.84964	0.561000	0.74099	CGT		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		T	114442771	C	T	114442771	3	4	2	1	0	0	0	0	1	0	0	0	751	536	19	1	1374	1	AP4B1	1	114442771	Missense_Mutation	SNP	C	TCGA-04-1332-01A-01W-0488-09	91251092	114442771	134807850	2	68											
TCHH	7062	genome.wustl.edu	37	1	152081608	152081608	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr1:152081608A>T	ENST00000368804.1	-	2	4084	c.4085T>A	c.(4084-4086)tTc>tAc	p.F1362Y		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1362	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.F1362Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTCGCGGAATTTTCTGTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											133	137	136					1																	152081608		1873	4100	5973	150348232	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4085T>A	1.37:g.152081608A>T	ENSP00000357794:p.Phe1362Tyr		150348232	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506750	0.26949	.	.	ENSG00000159450	ENST00000368804	T	0.07114	3.22	3.42	-0.874	0.10631	.	.	.	.	.	T	0.01421	0.0046	L	0.55481	1.735	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.48658	-0.9016	9	0.02654	T	1	0.0228	2.2965	0.04152	0.3375:0.0:0.2625:0.3999	.	1362	Q07283	TRHY_HUMAN	Y	1362	ENSP00000357794:F1362Y	ENSP00000357794:F1362Y	F	-	2	0	TCHH	150348232	0.018000	0.18449	0.001000	0.08648	0.277000	0.26821	-0.265000	0.08644	0.052000	0.16007	0.172000	0.16884	TTC		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152081608	A	T	152081608	3	4	2	1	0	0	0	0	1	0	0	0	15700	246	9	5	1750	5	TCHH	1	152081608	Missense_Mutation	SNP	A	TCGA-04-1332-01A-01W-0488-09	37638837	152081608	97169013	3	69											
LELP1	149018	genome.wustl.edu	37	1	153177462	153177462	+	Silent	SNP	C	C	T			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr1:153177462C>T	ENST00000368747.1	+	2	389	c.279C>T	c.(277-279)ccC>ccT	p.P93P		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	93	Cys/Pro-rich.							p.P93P(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCACCTCCCTGCCCTCCCC	0.632																																																2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	1											58	49	52					1																	153177462		2203	4300	6503	151444086	SO:0001819	synonymous_variant	149018				CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.279C>T	1.37:g.153177462C>T			151444086	A1L4E1	Silent	SNP	ENST00000368747.1	37	CCDS30869.1																																																																																				0.632	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		T	153177462	C	T	153177462	2	4	2	1	0	0	0	0	0	0	0	1	8718	668	24	2		2	LELP1	1	153177462	Silent	SNP	C	TCGA-04-1332-01A-01W-0488-09	1095854	153177462	96073159	4	70											
IL6R	3570	genome.wustl.edu	37	1	154407116	154407116	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr1:154407116G>A	ENST00000368485.3	+	4	1017	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	IL6R_ENST00000344086.4_Missense_Mutation_p.V194I	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	194	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.V194I(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GTCCATGTGCGTCGCCAGTAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											110	113	112					1																	154407116		2203	4300	6503	152673740	SO:0001583	missense	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.580G>A	1.37:g.154407116G>A	ENSP00000357470:p.Val194Ile		152673740	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332759	0.41297	.	.	ENSG00000160712	ENST00000368485;ENST00000344086	D;D	0.85629	-2.01;-2.01	4.83	2.89	0.33648	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.420518	0.20773	N	0.085921	T	0.72374	0.3452	L	0.36672	1.1	0.09310	N	1	P;P	0.50272	0.933;0.8	P;P	0.51453	0.573;0.67	T	0.65051	-0.6262	10	0.52906	T	0.07	-26.9414	6.4766	0.22039	0.0988:0.1838:0.7174:0.0	.	194;194	P08887-2;P08887	.;IL6RA_HUMAN	I	194	ENSP00000357470:V194I;ENSP00000340589:V194I	ENSP00000340589:V194I	V	+	1	0	IL6R	152673740	0.266000	0.24112	0.021000	0.16686	0.034000	0.12701	1.384000	0.34396	0.701000	0.31803	0.655000	0.94253	GTC		0.532	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		A	154407116	G	A	154407116	3	1	2	1	0	0	0	0	1	0	0	0	7702	1145	40	1	594	1	IL6R	1	154407116	Missense_Mutation	SNP	G	TCGA-04-1332-01A-01W-0488-09	1229654	154407116	94843505	5	71											
B3GNT2	10678	genome.wustl.edu	37	2	62449866	62449866	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr2:62449866G>A	ENST00000301998.4	+	2	763	c.511G>A	c.(511-513)Gca>Aca	p.A171T	B3GNT2_ENST00000405767.1_Missense_Mutation_p.A171T	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	171					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.A171T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AGAAAGCAACGCAGGGAACCA	0.527																																																1	Substitution - Missense(1)	ovary(1)	2											56	58	58					2																	62449866		2203	4300	6503	62303370	SO:0001583	missense	10678			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.511G>A	2.37:g.62449866G>A	ENSP00000305595:p.Ala171Thr		62303370	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	G	0.334	-0.954133	0.02285	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.45668	0.89;0.89	5.74	1.4	0.22301	.	1.244490	0.05367	N	0.534787	T	0.28764	0.0713	L	0.28192	0.835	0.09310	N	1	B	0.22800	0.075	B	0.18871	0.023	T	0.20773	-1.0265	10	0.33940	T	0.23	.	4.4594	0.11659	0.212:0.0861:0.5645:0.1374	.	171	Q9NY97	B3GN2_HUMAN	T	171	ENSP00000305595:A171T;ENSP00000384692:A171T	ENSP00000305595:A171T	A	+	1	0	B3GNT2	62303370	0.000000	0.05858	0.015000	0.15790	0.008000	0.06430	0.105000	0.15333	0.086000	0.17137	-0.813000	0.03139	GCA		0.527	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		A	62449866	G	A	62449866	3	1	2	1	0	0	0	0	1	0	0	0	1257	1087	38	1	513	1	B3GNT2	2	62449866	Missense_Mutation	SNP	G	TCGA-04-1332-01A-01W-0488-09		62449866	180749507	6	72											
TTN	7273	genome.wustl.edu	37	2	179437666	179437666	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr2:179437666C>T	ENST00000591111.1	-	276	68494	c.68270G>A	c.(68269-68271)cGc>cAc	p.R22757H	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24398H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21830H|TTN_ENST00000342175.6_Missense_Mutation_p.R15525H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15458H|TTN_ENST00000460472.2_Missense_Mutation_p.R15333H			Q8WZ42	TITIN_HUMAN	titin	22757	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R15333H(1)|p.R21828H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCATAGATGCGGATCTTATA	0.483																																																2	Substitution - Missense(2)	ovary(2)	2											83	85	84					2																	179437666		1974	4148	6122	179145912	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68270G>A	2.37:g.179437666C>T	ENSP00000465570:p.Arg22757His		179145912	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.23	1.576681	0.28092	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.91	5.04	0.67666	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73783	0.3631	H	0.98936	4.375	0.32327	N	0.561567	B;B;B;B	0.17268	0.021;0.021;0.021;0.021	B;B;B;B	0.15484	0.013;0.013;0.013;0.013	T	0.78974	-0.1992	9	0.87932	D	0	.	11.3974	0.49849	0.0:0.8617:0.0:0.1383	.	15333;15458;15525;22757	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	21830;15333;15525;15458;15331	ENSP00000343764:R21830H;ENSP00000434586:R15333H;ENSP00000340554:R15525H;ENSP00000352154:R15458H	ENSP00000340554:R15525H	R	-	2	0	TTN	179145912	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	3.702000	0.54800	1.520000	0.48965	0.655000	0.94253	CGC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179437666	C	T	179437666	3	4	2	1	0	0	0	0	1	0	0	0	16735	768	27	1	34934	1	TTN	2	179437666	Missense_Mutation	SNP	C	TCGA-04-1332-01A-01W-0488-09	116987800	179437666	63761707	7	73											
TTN	7273	genome.wustl.edu	37	2	179477126	179477126	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr2:179477126T>C	ENST00000591111.1	-	216	45427	c.45203A>G	c.(45202-45204)aAg>aGg	p.K15068R	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K16709R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14141R|TTN_ENST00000342175.6_Missense_Mutation_p.K7836R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K7769R|TTN_ENST00000460472.2_Missense_Mutation_p.K7644R			Q8WZ42	TITIN_HUMAN	titin	15068	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K7644R(1)|p.K14141R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTGTGCACTTGGTGTCCTT	0.493																																																2	Substitution - Missense(2)	ovary(2)	2											105	97	99					2																	179477126		1970	4144	6114	179185371	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45203A>G	2.37:g.179477126T>C	ENSP00000465570:p.Lys15068Arg		179185371	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.96	1.793698	0.31685	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.71	5.71	0.89125	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60856	0.2301	N	0.25992	0.78	0.47183	D	0.999342	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	D;D;D;D	0.69307	0.933;0.933;0.933;0.963	T	0.65479	-0.6158	9	0.87932	D	0	.	15.9771	0.80076	0.0:0.0:0.0:1.0	.	7644;7769;7836;15068	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	14141;7644;7836;7769;7644	ENSP00000343764:K14141R;ENSP00000434586:K7644R;ENSP00000340554:K7836R;ENSP00000352154:K7769R	ENSP00000340554:K7836R	K	-	2	0	TTN	179185371	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.978000	0.63799	2.178000	0.69098	0.460000	0.39030	AAG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179477126	T	C	179477126	3	2	2	1	0	0	0	0	1	0	0	0	16735	1609	56	4	57955	4	TTN	2	179477126	Missense_Mutation	SNP	T	TCGA-04-1332-01A-01W-0488-09	39460	179477126	63722247	8	74											
NCL	4691	genome.wustl.edu	37	2	232320317	232320317	+	Silent	SNP	G	G	A			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr2:232320317G>A	ENST00000322723.4	-	13	2091	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	617	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.F617F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCTCACTGTTGAAGTCTACAA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	2											152	162	158					2																	232320317		2203	4300	6503	232028561	SO:0001819	synonymous_variant	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1851C>T	2.37:g.232320317G>A			232028561	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1																																																																																				0.448	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		A	232320317	G	A	232320317	2	1	2	1	0	0	0	0	0	0	0	1	10226	1281	45	2		2	NCL	2	232320317	Silent	SNP	G	TCGA-04-1332-01A-01W-0488-09	52843191	232320317	10879056	9	75											
UGT1A9	54600	genome.wustl.edu	37	2	234581345	234581345	+	Silent	SNP	G	G	A			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr2:234581345G>A	ENST00000354728.4	+	1	847	c.765G>A	c.(763-765)acG>acA	p.T255T	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.T255T			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	255					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.T255T(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TGTTGCGAACGGACTTTGTTT	0.433																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	2											237	228	231					2																	234581345		2203	4298	6501	234246084	SO:0001819	synonymous_variant	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.765G>A	2.37:g.234581345G>A			234246084	B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	CCDS2505.1																																																																																				0.433	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		A	234581345	G	A	234581345	2	1	2	1	0	0	0	0	0	0	0	1	16952	1103	39	1		1	UGT1A9	2	234581345	Silent	SNP	G	TCGA-04-1332-01A-01W-0488-09	2261028	234581345	8618028	10	76											
HPS3	84343	genome.wustl.edu	37	3	148877851	148877851	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr3:148877851G>T	ENST00000296051.2	+	11	2031	c.1891G>T	c.(1891-1893)Gtt>Ttt	p.V631F	HPS3_ENST00000460120.1_Missense_Mutation_p.V466F	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	631					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.V631F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCAAAAGTGGTTCAGATGTT	0.393									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	ovary(1)	3											146	142	143					3																	148877851		2203	4300	6503	150360541	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1891G>T	3.37:g.148877851G>T	ENSP00000296051:p.Val631Phe		150360541	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485054	0.44147	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.66460	-0.21;-0.21	5.41	3.23	0.37069	.	0.417145	0.25823	N	0.028080	T	0.53206	0.1782	L	0.29908	0.895	0.09310	N	0.999993	P;P	0.43519	0.809;0.809	P;P	0.45971	0.499;0.499	T	0.41466	-0.9507	10	0.35671	T	0.21	-6.2554	4.2147	0.10528	0.3037:0.2482:0.4481:0.0	.	466;631	G5E9V4;Q969F9	.;HPS3_HUMAN	F	631;466	ENSP00000296051:V631F;ENSP00000418230:V466F	ENSP00000296051:V631F	V	+	1	0	HPS3	150360541	0.922000	0.31269	0.883000	0.34634	0.997000	0.91878	0.999000	0.29757	1.429000	0.47314	0.563000	0.77884	GTT		0.393	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		T	148877851	G	T	148877851	3	4	2	1	0	0	0	0	1	0	0	0	7340	1261	44	3	1933	3	HPS3	3	148877851	Missense_Mutation	SNP	G	TCGA-04-1332-01A-01W-0488-09		148877851	49144579	11	77											
MAP3K13	9175	genome.wustl.edu	37	3	185184670	185184670	+	Missense_Mutation	SNP	G	G	A	rs188669013		TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr3:185184670G>A	ENST00000265026.3	+	10	1896	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	MAP3K13_ENST00000424227.1_Missense_Mutation_p.R521H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R314H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R377H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R521H(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACCCTGTTCGTCCTATCATC	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		18127	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3											150	120	130					3																	185184670		2203	4300	6503	186667364	SO:0001583	missense	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1562G>A	3.37:g.185184670G>A	ENSP00000265026:p.Arg521His		186667364		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.4	4.138601	0.77775	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.56	4.68	0.58851	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	P;D;P	0.56287	0.89;0.975;0.915	B;P;P	0.53035	0.329;0.716;0.475	T	0.06954	-1.0798	10	0.52906	T	0.07	.	16.1016	0.81175	0.0:0.0:0.865:0.135	.	377;314;521	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	314;521;377;377;521	ENSP00000411483:R314H;ENSP00000399910:R521H;ENSP00000409325:R377H;ENSP00000439257:R377H;ENSP00000265026:R521H	ENSP00000265026:R521H	R	+	2	0	MAP3K13	186667364	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.695000	0.98691	1.453000	0.47775	0.655000	0.94253	CGT		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		A	185184670	G	A	185184670	3	1	2	1	0	0	0	0	1	0	0	0	9247	1145	40	1	1596	1	MAP3K13	3	185184670	Missense_Mutation	SNP	G	TCGA-04-1332-01A-01W-0488-09	36306819	185184670	12837760	12	78											
CENPE	1062	genome.wustl.edu	37	4	104055002	104055002	+	Silent	SNP	G	G	A			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr4:104055002G>A	ENST00000265148.3	-	41	6659	c.6570C>T	c.(6568-6570)tcC>tcT	p.S2190S	CENPE_ENST00000380026.3_Silent_p.S2069S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2190	Kinetochore-binding domain.			S -> C (in Ref. 1; CAA78727). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.S2153S(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTATTGATGGATTCATGTT	0.279																																																1	Substitution - coding silent(1)	ovary(1)	4											111	105	107					4																	104055002		2201	4298	6499	104274451	SO:0001819	synonymous_variant	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6570C>T	4.37:g.104055002G>A			104274451	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																				0.279	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104055002	G	A	104055002	2	1	2	1	0	0	0	0	0	0	0	1	3230	1335	47	2		2	CENPE	4	104055002	Silent	SNP	G	TCGA-04-1332-01A-01W-0488-09		104055002	87099274	13	79											
GPRC6A	222545	genome.wustl.edu	37	6	117113364	117113364	+	Silent	SNP	T	T	G			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr6:117113364T>G	ENST00000310357.3	-	6	2743	c.2722A>C	c.(2722-2724)Agg>Cgg	p.R908R	GPRC6A_ENST00000530250.1_Silent_p.R733R|GPRC6A_ENST00000368549.3_Silent_p.R837R	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	908					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R908R(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCATTTTCCCTGCATATGTGT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	6											157	159	159					6																	117113364		2203	4300	6503	117220057	SO:0001819	synonymous_variant	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2722A>C	6.37:g.117113364T>G			117220057	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																				0.423	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			G	117113364	T	G	117113364	2	3	2	1	0	0	0	0	0	0	0	1	6728	1579	55	5		5	GPRC6A	6	117113364	Silent	SNP	T	TCGA-04-1332-01A-01W-0488-09		117113364	54001703	14	80											
DNAH11	8701	genome.wustl.edu	37	7	21847510	21847510	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr7:21847510G>A	ENST00000409508.3	+	63	10206	c.10175G>A	c.(10174-10176)cGc>cAc	p.R3392H	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3399H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3399	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3399H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAAGATTCGCTGGGGTCAA	0.438									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											68	67	67					7																	21847510		1895	4113	6008	21814035	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10175G>A	7.37:g.21847510G>A	ENSP00000475939:p.Arg3392His		21814035	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	29.3	4.994823	0.93167	.	.	ENSG00000105877	ENST00000328843	T	0.80994	-1.44	6.02	6.02	0.97574	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.89760	0.6808	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90326	0.4348	9	0.87932	D	0	.	14.6737	0.68964	0.0707:0.0:0.9293:0.0	.	3399	Q96DT5	DYH11_HUMAN	H	3399	ENSP00000330671:R3399H	ENSP00000330671:R3399H	R	+	2	0	DNAH11	21814035	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.691000	0.61738	2.865000	0.98341	0.655000	0.94253	CGC		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21847510	G	A	21847510	3	1	2	1	0	0	0	0	1	0	0	0	4599	1087	38	1	10447	1	DNAH11	7	21847510	Missense_Mutation	SNP	G	TCGA-04-1332-01A-01W-0488-09		21847510	137291153	15	81											
PMPCB	9512	genome.wustl.edu	37	7	102948090	102948090	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr7:102948090G>C	ENST00000249269.4	+	7	822	c.784G>C	c.(784-786)Gac>Cac	p.D262H	PMPCB_ENST00000420236.2_Missense_Mutation_p.D157H|PMPCB_ENST00000428154.1_Missense_Mutation_p.D262H	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	262					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.D262H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATTTCGGTGACTCTTTATG	0.388																																																1	Substitution - Missense(1)	ovary(1)	7											118	105	109					7																	102948090		2203	4300	6503	102735326	SO:0001583	missense	9512			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.784G>C	7.37:g.102948090G>C	ENSP00000249269:p.Asp262His		102735326	O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856513	0.51376	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.09538	2.97;2.97;2.97	5.92	4.94	0.65067	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.184813	0.56097	D	0.000030	T	0.12475	0.0303	L	0.37800	1.135	0.34643	D	0.720849	B;P;B;B;B;B;B	0.38617	0.068;0.64;0.035;0.035;0.014;0.014;0.432	B;P;B;B;B;B;B	0.51055	0.174;0.657;0.035;0.035;0.035;0.035;0.424	T	0.24012	-1.0172	10	0.16896	T	0.51	.	3.934	0.09298	0.3172:0.0:0.6828:0.0	.	157;157;262;262;253;262;262	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	H	262;262;157	ENSP00000249269:D262H;ENSP00000390035:D262H;ENSP00000410393:D157H	ENSP00000249269:D262H	D	+	1	0	PMPCB	102735326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.555000	0.53727	2.809000	0.96659	0.655000	0.94253	GAC		0.388	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		C	102948090	G	C	102948090	3	2	2	1	0	0	0	0	1	0	0	0	12141	1290	45	3	810	3	PMPCB	7	102948090	Missense_Mutation	SNP	G	TCGA-04-1332-01A-01W-0488-09	81100580	102948090	56190573	16	82											
TPK1	27010	genome.wustl.edu	37	7	144288554	144288554	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr7:144288554T>C	ENST00000360057.3	-	7	565	c.463A>G	c.(463-465)Ata>Gta	p.I155V	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000549981.1_Missense_Mutation_p.I38V|TPK1_ENST00000378099.3_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	155					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.I155V(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCTTGGATTATTATAATTGGA	0.448																																					Ovarian(45;88 1034 2073 5829 28455)											1	Substitution - Missense(1)	ovary(1)	7											133	133	133					7																	144288554		2203	4300	6503	143919487	SO:0001583	missense	27010			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"placental protein 20", "thiamine pyrophosphokinase 1", "thiamine kinase", "thiamine diphosphokinase"	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.463A>G	7.37:g.144288554T>C	ENSP00000353165:p.Ile155Val		143919487	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	T	9.814	1.183964	0.21870	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	D;D	0.82526	-1.62;-1.62	5.78	4.64	0.57946	Thiamin pyrophosphokinase, catalytic domain (2);Thiamin pyrophosphokinase, vitamin B1-binding domain (1);	0.307243	0.39146	N	0.001445	T	0.68604	0.3019	N	0.16201	0.385	0.43103	D	0.994792	B	0.11235	0.004	B	0.15484	0.013	T	0.65813	-0.6077	10	0.46703	T	0.11	-6.926	9.3118	0.37910	0.0:0.0833:0.0:0.9167	.	155	Q9H3S4	TPK1_HUMAN	V	155;38;155	ENSP00000353165:I155V;ENSP00000448655:I155V	ENSP00000353165:I155V	I	-	1	0	TPK1	143919487	1.000000	0.71417	0.892000	0.35008	0.685000	0.39939	1.235000	0.32671	2.220000	0.72140	0.533000	0.62120	ATA		0.448	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		C	144288554	T	C	144288554	3	2	2	1	0	0	0	0	1	0	0	0	16404	1493	52	4	280	4	TPK1	7	144288554	Missense_Mutation	SNP	T	TCGA-04-1332-01A-01W-0488-09	41340464	144288554	14850109	17	83											
RANBP6	26953	genome.wustl.edu	37	9	6014609	6014609	+	Silent	SNP	A	A	G			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr9:6014609A>G	ENST00000259569.5	-	1	1009	c.999T>C	c.(997-999)gaT>gaC	p.D333D	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	333	Ran-GTP binding. {ECO:0000250}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D333D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTTCCATTTCATCAGCATTTA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	9											91	84	86					9																	6014609		2203	4300	6503	6004609	SO:0001819	synonymous_variant	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.999T>C	9.37:g.6014609A>G			6004609	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	CCDS6467.1																																																																																				0.403	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		G	6014609	A	G	6014609	2	3	2	1	0	0	0	0	0	0	0	1	13034	214	8	4		4	RANBP6	9	6014609	Silent	SNP	A	TCGA-04-1332-01A-01W-0488-09		6014609	135198822	18	84											
KCNT1	57582	genome.wustl.edu	37	9	138642853	138642853	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr9:138642853G>A	ENST00000263604.3	+	4	343	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	KCNT1_ENST00000488444.2_Missense_Mutation_p.V115I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V115I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V101I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V86I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V95I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V134I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V134I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	115					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.V134I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATTGTGCGCGTCCTGCTCGA	0.706																																																1	Substitution - Missense(1)	ovary(1)	9											90	82	85					9																	138642853		2203	4300	6503	137782674	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.343G>A	9.37:g.138642853G>A	ENSP00000263604:p.Val115Ile		137782674	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	.	18.56	3.651277	0.67472	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.55234	1.54;1.41;1.4;0.53;1.49	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000002	T	0.71626	0.3362	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.68192	0.905;0.956	T	0.76405	-0.2971	10	0.72032	D	0.01	-45.2578	16.5626	0.84570	0.0:0.0:1.0:0.0	.	134;86	B9EGP2;G5E9V0	.;.	I	86;134;134;81;95;101;115;115;115	ENSP00000417851:V86I;ENSP00000298480:V134I;ENSP00000360822:V134I;ENSP00000420764:V81I;ENSP00000263604:V115I	ENSP00000263604:V115I	V	+	1	0	KCNT1	137782674	1.000000	0.71417	0.771000	0.31576	0.006000	0.05464	9.291000	0.96070	2.149000	0.67028	0.561000	0.74099	GTC		0.706	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138642853	G	A	138642853	3	1	2	1	0	0	0	0	1	0	0	0	8091	1145	40	1	414	1	KCNT1	9	138642853	Missense_Mutation	SNP	G	TCGA-04-1332-01A-01W-0488-09	132628244	138642853	2570578	19	85											
ERCC6	2074	genome.wustl.edu	37	10	50708600	50708600	+	Missense_Mutation	SNP	G	G	C	rs115582915	byFrequency	TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr10:50708600G>C	ENST00000355832.5	-	7	1747	c.1669C>G	c.(1669-1671)Cgt>Ggt	p.R557G	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	557	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.R557G(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTGAACCACGAGTCCTGATC	0.483								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	10											157	135	143					10																	50708600		2203	4300	6503	50378606	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1669C>G	10.37:g.50708600G>C	ENSP00000348089:p.Arg557Gly		50378606	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229369	0.39399	.	.	ENSG00000225830	ENST00000355832	D	0.92911	-3.13	5.87	5.87	0.94306	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.94739	0.8302	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.94512	0.7719	9	0.72032	D	0.01	-9.9561	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	557	Q03468	ERCC6_HUMAN	G	557	ENSP00000348089:R557G	ENSP00000348089:R557G	R	-	1	0	ERCC6	50378606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.146000	0.71777	2.941000	0.99782	0.655000	0.94253	CGT		0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		C	50708600	G	C	50708600	3	2	2	1	0	0	0	0	1	0	0	0	5217	1058	37	3	2872	3	ERCC6	10	50708600	Missense_Mutation	SNP	G	TCGA-04-1332-01A-01W-0488-09		50708600	84826147	20	86											
TTC18	118491	genome.wustl.edu	37	10	75113461	75113461	+	Missense_Mutation	SNP	C	C	A	rs140163805		TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr10:75113461C>A	ENST00000310715.3	-	3	223	c.103G>T	c.(103-105)Gca>Tca	p.A35S	TTC18_ENST00000340329.3_Missense_Mutation_p.A35S|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.A35S|TTC18_ENST00000401621.2_Missense_Mutation_p.A35S	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		35						extracellular vesicular exosome (GO:0070062)		p.A35S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGAATTCTGCTCGAATAAAG	0.363																																																1	Substitution - Missense(1)	ovary(1)	10						C	SER/ALA	0,4406		0,0,2203	102	93	96		103	5.2	1	10	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC18	NM_145170.3	99	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	35/1122	75113461	1,13005	2203	4300	6503	74783467	SO:0001583	missense	118491																														ENST00000310715.3:c.103G>T	10.37:g.75113461C>A	ENSP00000310829:p.Ala35Ser		74783467	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899372	0.52227	0.0	1.16E-4	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865;ENST00000394862	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.25	5.25	0.73442	.	0.227351	0.44483	D	0.000442	T	0.20780	0.0500	L	0.50333	1.59	0.30165	N	0.801843	P	0.45176	0.852	B	0.34180	0.177	T	0.28554	-1.0040	10	0.48119	T	0.1	0.0932	11.4439	0.50112	0.1801:0.8199:0.0:0.0	.	35	Q5T0N1	TTC18_HUMAN	S	35	ENSP00000310829:A35S;ENSP00000384479:A35S;ENSP00000343650:A35S;ENSP00000378334:A35S	ENSP00000310829:A35S	A	-	1	0	TTC18	74783467	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	2.991000	0.49409	2.430000	0.82344	0.561000	0.74099	GCA		0.363	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	75113461	C	A	75113461	3	1	2	1	0	0	0	0	1	0	0	0	16685	797	28	3	3366	3	TTC18	10	75113461	Missense_Mutation	SNP	C	TCGA-04-1332-01A-01W-0488-09	24404861	75113461	60421286	21	87											
OR10G7	390265	genome.wustl.edu	37	11	123909234	123909234	+	Missense_Mutation	SNP	T	T	C	rs201972627	byFrequency	TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr11:123909234T>C	ENST00000330487.5	-	1	483	c.475A>G	c.(475-477)Acc>Gcc	p.T159A		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T159A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCAATATGGTCTGGACAGCA	0.577													T|||	4	0.000798722	0	0	5008	,	,		20775	0.004		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11						T	ALA/THR	0,4400		0,0,2200	146	141	143		475	2.1	0.8	11		143	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR10G7	NM_001004463.1	58	0,1,6494	CC,CT,TT		0.0116,0.0,0.0077	benign	159/312	123909234	1,12989	2200	4295	6495	123414444	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.475A>G	11.37:g.123909234T>C	ENSP00000329689:p.Thr159Ala		123414444	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	11	0.005036630036630037	0	0.0	3	0.008287292817679558	6	0.01048951048951049	2	0.002638522427440633	T	8.660	0.900292	0.17686	0.0	1.16E-4	ENSG00000182634	ENST00000330487	T	0.00256	8.42	3.24	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.139097	0.33075	N	0.005307	T	0.00144	0.0004	L	0.49126	1.545	0.30208	N	0.79798	B	0.19073	0.033	B	0.34385	0.181	T	0.03761	-1.1006	10	0.46703	T	0.11	.	7.9741	0.30145	0.0:0.1027:0.0:0.8973	.	159	Q8NGN6	O10G7_HUMAN	A	159	ENSP00000329689:T159A	ENSP00000329689:T159A	T	-	1	0	OR10G7	123414444	0.000000	0.05858	0.840000	0.33206	0.416000	0.31233	0.059000	0.14322	0.466000	0.27193	0.374000	0.22700	ACC		0.577	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		C	123909234	T	C	123909234	3	2	2	1	0	0	0	0	1	0	0	0	10902	1667	58	4	464	4	OR10G7	11	123909234	Missense_Mutation	SNP	T	TCGA-04-1332-01A-01W-0488-09		123909234	11097282	22	88											
PAPLN	89932	genome.wustl.edu	37	14	73717706	73717706	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr14:73717706C>A	ENST00000554301.1	+	6	720	c.557C>A	c.(556-558)gCa>gAa	p.A186E	PAPLN_ENST00000381166.3_Missense_Mutation_p.A186E|PAPLN_ENST00000427855.1_Missense_Mutation_p.A186E|PAPLN_ENST00000555445.1_Missense_Mutation_p.A186E|PAPLN_ENST00000340738.5_Missense_Mutation_p.A186E			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	186						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.A186E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TACCCCGTCGCAGGCACCTTT	0.637																																																1	Substitution - Missense(1)	ovary(1)	14											99	86	90					14																	73717706		2203	4300	6503	72787459	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.557C>A	14.37:g.73717706C>A	ENSP00000451803:p.Ala186Glu		72787459	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		.	.	.	.	.	.	.	.	.	.	c	10.99	1.507401	0.27036	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.33	-0.144	0.13440	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.34890	0.0913	N	0.04768	-0.165	0.18873	N	0.999986	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.17868	-1.0355	9	0.12766	T	0.61	.	2.1136	0.03708	0.2957:0.3145:0.2889:0.1009	.	186;186;186	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	E	186	ENSP00000345395:A186E;ENSP00000403403:A186E;ENSP00000370558:A186E;ENSP00000451803:A186E;ENSP00000451729:A186E	ENSP00000216658:A186E	A	+	2	0	PAPLN	72787459	0.667000	0.27484	0.168000	0.22838	0.780000	0.44128	0.641000	0.24720	0.157000	0.19338	0.550000	0.68814	GCA		0.637	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		A	73717706	C	A	73717706	3	1	2	1	0	0	0	0	1	0	0	0	11428	710	25	3	579	3	PAPLN	14	73717706	Missense_Mutation	SNP	C	TCGA-04-1332-01A-01W-0488-09		73717706	33631834	23	89											
AP3B2	8120	genome.wustl.edu	37	15	83331586	83331586	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr15:83331586C>T	ENST00000261722.3	-	22	2843	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R898H|AP3B2_ENST00000535348.1_Missense_Mutation_p.R847H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	879					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R878H(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAAAGGTTGGCGGCTGAAGGT	0.612																																																1	Substitution - Missense(1)	ovary(1)	15											36	43	41					15																	83331586		2048	4200	6248	81128641	SO:0001583	missense	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2636G>A	15.37:g.83331586C>T	ENSP00000261722:p.Arg879His		81128641	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449044	0.96205	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.37915	1.17;1.17;1.17	6.04	5.12	0.69794	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (1);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.85130	0.997;0.869;0.869	T	0.74456	-0.3659	10	0.87932	D	0	-19.1441	16.8305	0.85943	0.1296:0.8704:0.0:0.0	.	847;898;879	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	H	879;847;898	ENSP00000261722:R879H;ENSP00000438721:R847H;ENSP00000440984:R898H	ENSP00000261722:R879H	R	-	2	0	AP3B2	81128641	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.610000	0.82949	1.551000	0.49450	0.563000	0.77884	CGC		0.612	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			T	83331586	C	T	83331586	3	4	2	1	0	0	0	0	1	0	0	0	745	768	27	1	632	1	AP3B2	15	83331586	Missense_Mutation	SNP	C	TCGA-04-1332-01A-01W-0488-09		83331586	19199806	24	90											
SERPINF1	5176	genome.wustl.edu	37	17	1674326	1674326	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr17:1674326C>T	ENST00000254722.4	+	4	450	c.287C>T	c.(286-288)gCg>gTg	p.A96V	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	96					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A96V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CTGGCAGGAGCGGAGCAGCGA	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											132	130	131					17																	1674326		2203	4300	6503	1621076	SO:0001583	missense	5176			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.287C>T	17.37:g.1674326C>T	ENSP00000254722:p.Ala96Val		1621076	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519947	0.85495	.	.	ENSG00000132386	ENST00000254722	T	0.56103	0.48	5.21	5.21	0.72293	Serpin domain (3);	0.158164	0.56097	D	0.000039	T	0.66597	0.2805	M	0.78456	2.415	0.80722	D	1	D	0.64830	0.994	P	0.54401	0.751	T	0.72276	-0.4341	10	0.87932	D	0	.	14.4357	0.67279	0.0:0.8528:0.1472:0.0	.	96	P36955	PEDF_HUMAN	V	96	ENSP00000254722:A96V	ENSP00000254722:A96V	A	+	2	0	SERPINF1	1621076	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	3.588000	0.53964	2.434000	0.82447	0.650000	0.86243	GCG		0.517	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		T	1674326	C	T	1674326	3	4	2	1	0	0	0	0	1	0	0	0	14117	768	27	1	297	1	SERPINF1	17	1674326	Missense_Mutation	SNP	C	TCGA-04-1332-01A-01W-0488-09		1674326	79520884	25	91											
TP53	7157	genome.wustl.edu	37	17	7578388	7578388	+	Missense_Mutation	SNP	C	C	G	rs397514495		TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr17:7578388C>G	ENST00000269305.4	-	5	731	c.542G>C	c.(541-543)cGc>cCc	p.R181P	TP53_ENST00000413465.2_Missense_Mutation_p.R181P|TP53_ENST00000455263.2_Missense_Mutation_p.R181P|TP53_ENST00000359597.4_Missense_Mutation_p.R181P|TP53_ENST00000445888.2_Missense_Mutation_p.R181P|TP53_ENST00000420246.2_Missense_Mutation_p.R181P|TP53_ENST00000574684.1_5'UTR	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	181	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R181H(21)|p.R181P(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R49P(1)|p.C176fs*65(1)|p.R181C(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(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)	ATCTGAGCAGCGCTCATGGTG	0.637		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"	80	Substitution - Missense(41)|Deletion - In frame(17)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - insertion inframe(1)	large_intestine(17)|upper_aerodigestive_tract(14)|ovary(7)|central_nervous_system(6)|lung(6)|bone(5)|breast(5)|oesophagus(4)|urinary_tract(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|pancreas(2)|prostate(2)|kidney(1)|biliary_tract(1)|endometrium(1)	17	GRCh37	CM056067|CM920671|CM942120	TP53	M							47	47	47					17																	7578388		2203	4300	6503	7519113	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.542G>C	17.37:g.7578388C>G	ENSP00000269305:p.Arg181Pro		7519113	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377445	0.61735	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	5.26	4.28	0.50868	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	0.99711	0.9889	M	0.83953	2.67	0.51482	D	0.999922	D;D;D;D;D;D;D	0.76494	0.998;0.996;0.987;0.999;0.992;0.996;0.999	D;D;P;D;D;D;D	0.76575	0.948;0.974;0.839;0.939;0.979;0.988;0.978	D	0.97421	1.0009	10	0.87932	D	0	-14.2374	13.4086	0.60929	0.1583:0.8417:0.0:0.0	.	142;181;181;88;181;181;181	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	181;181;181;181;181;181;170;88;49;88;49	ENSP00000410739:R181P;ENSP00000352610:R181P;ENSP00000269305:R181P;ENSP00000398846:R181P;ENSP00000391127:R181P;ENSP00000391478:R181P;ENSP00000425104:R49P;ENSP00000423862:R88P	ENSP00000269305:R181P	R	-	2	0	TP53	7519113	0.764000	0.28473	0.996000	0.52242	0.802000	0.45316	1.201000	0.32259	1.345000	0.45676	0.563000	0.77884	CGC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578388	C	G	7578388	3	3	2	1	0	0	0	0	1	0	0	0	16381	768	27	3	756	3	TP53	17	7578388	Missense_Mutation	SNP	C	TCGA-04-1332-01A-01W-0488-09	5904062	7578388	73616822	26	92											
PSTPIP2	9050	genome.wustl.edu	37	18	43578790	43578790	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr18:43578790C>T	ENST00000409746.5	-	8	603	c.532G>A	c.(532-534)Gca>Aca	p.A178T	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.A178T|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	178						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.A178T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTGAAGTTGCCAGTTTCACA	0.478																																																1	Substitution - Missense(1)	ovary(1)	18											103	103	103					18																	43578790		2203	4300	6503	41832788	SO:0001583	missense	9050				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.532G>A	18.37:g.43578790C>T	ENSP00000387261:p.Ala178Thr		41832788		Missense_Mutation	SNP	ENST00000409746.5	37	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566606	0.86439	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.42900	0.96	5.36	5.36	0.76844	.	0.204155	0.43919	D	0.000508	T	0.58395	0.2119	M	0.79475	2.455	0.45261	D	0.99826	D;D	0.65815	0.981;0.995	P;P	0.55923	0.761;0.787	T	0.55842	-0.8077	10	0.15066	T	0.55	.	17.8464	0.88731	0.0:1.0:0.0:0.0	.	178;178	Q9H939-2;Q9H939	.;PPIP2_HUMAN	T	178	ENSP00000387261:A178T	ENSP00000353189:A178T	A	-	1	0	PSTPIP2	41832788	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.326000	0.59241	2.500000	0.84329	0.555000	0.69702	GCA		0.478	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			T	43578790	C	T	43578790	3	4	2	1	0	0	0	0	1	0	0	0	12725	739	26	2	500	2	PSTPIP2	18	43578790	Missense_Mutation	SNP	C	TCGA-04-1332-01A-01W-0488-09		43578790	34498458	27	93											
RELB	5971	genome.wustl.edu	37	19	45537526	45537526	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr19:45537526G>A	ENST00000221452.8	+	10	1382	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	RELB_ENST00000540120.1_Missense_Mutation_p.R411Q|RELB_ENST00000505236.1_Missense_Mutation_p.R408Q	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	411	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.			R -> A (in Ref. 1; AAA36127). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R411Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GACAAGAAGCGGAAACGGGGG	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											54	57	56					19																	45537526		1951	4146	6097	50229366	SO:0001583	missense	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1232G>A	19.37:g.45537526G>A	ENSP00000221452:p.Arg411Gln		50229366	Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557926	0.86231	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.38560	1.13;1.13;1.13	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000008	T	0.66557	0.2801	M	0.87758	2.905	0.48236	D	0.999615	D	0.89917	1.0	D	0.67900	0.954	T	0.72887	-0.4156	10	0.87932	D	0	-8.3957	13.2639	0.60122	0.0:0.0:1.0:0.0	.	408	D6R992	.	Q	411;411;408	ENSP00000221452:R411Q;ENSP00000445542:R411Q;ENSP00000423287:R408Q	ENSP00000221452:R411Q	R	+	2	0	RELB	50229366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.828000	0.62730	2.501000	0.84356	0.563000	0.77884	CGG		0.498	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			A	45537526	G	A	45537526	3	1	2	1	0	0	0	0	1	0	0	0	13220	1116	39	1	1262	1	RELB	19	45537526	Missense_Mutation	SNP	G	TCGA-04-1332-01A-01W-0488-09		45537526	13591457	28	94											
RSPH6A	81492	genome.wustl.edu	37	19	46303754	46303754	+	Silent	SNP	G	G	C			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chr19:46303754G>C	ENST00000221538.3	-	5	2008	c.1866C>G	c.(1864-1866)gcC>gcG	p.A622A	RSPH6A_ENST00000597055.1_Silent_p.A622A|RSPH6A_ENST00000600188.1_Silent_p.A358A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	622	Glu-rich.					intracellular (GO:0005622)		p.A622A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGCGCACAACGGCCACTGAGT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	19											51	48	49					19																	46303754		2203	4300	6503	50995594	SO:0001819	synonymous_variant	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1866C>G	19.37:g.46303754G>C			50995594	Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1																																																																																				0.637	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			C	46303754	G	C	46303754	2	2	2	1	0	0	0	0	0	0	0	1	13710	1103	39	3		3	RSPH6A	19	46303754	Silent	SNP	G	TCGA-04-1332-01A-01W-0488-09	766228	46303754	12825229	29	95											
PORCN	64840	genome.wustl.edu	37	X	48369686	48369686	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1332-01A-01W-0488-09	TCGA-04-1332-10A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b52e5d90-dc57-438c-9c38-e043308c24ac	eee56151-3098-455a-b8d0-bd4cc912ab3a	g.chrX:48369686T>G	ENST00000326194.6	+	2	183	c.140T>G	c.(139-141)tTg>tGg	p.L47W	PORCN_ENST00000361988.3_Missense_Mutation_p.L47W|PORCN_ENST00000355092.3_Missense_Mutation_p.L47W|PORCN_ENST00000359882.4_Missense_Mutation_p.L47W|PORCN_ENST00000486272.1_3'UTR|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000367574.4_Intron|PORCN_ENST00000537758.1_Missense_Mutation_p.L47W|PORCN_ENST00000355961.4_Missense_Mutation_p.L47W	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	47	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.L47W(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCAAAGGGTTGCCATCCTAC	0.562											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	X											104	90	95					X																	48369686		2203	4300	6503	48254630	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.140T>G	X.37:g.48369686T>G	ENSP00000322304:p.Leu47Trp	954	48254630	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360522	0.82353	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.98060	-3.7;-4.69;-3.71;-2.69;-3.7;-4.69;-3.7	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000002	D	0.98166	0.9394	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;0.999;0.999;1.0	D;D;D;D;D	0.97110	0.972;0.933;0.972;0.972;1.0	D	0.98368	1.0552	10	0.51188	T	0.08	-6.9954	11.1867	0.48660	0.0:0.0:0.0:1.0	.	47;47;47;47;47	Q9H237-3;Q9H237;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.	W	47	ENSP00000352946:L47W;ENSP00000446401:L47W;ENSP00000348233:L47W;ENSP00000419212:L47W;ENSP00000354978:L47W;ENSP00000322304:L47W;ENSP00000347207:L47W	ENSP00000322304:L47W	L	+	2	0	PORCN	48254630	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.160000	0.64929	1.913000	0.55393	0.481000	0.45027	TTG		0.562	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		G	48369686	T	G	48369686	3	3	2	1	0	0	0	0	1	0	0	0	12258	1821	63	5	146	5	PORCN	23	48369686	Missense_Mutation	SNP	T	TCGA-04-1332-01A-01W-0488-09		48369686	106900874	30	96											
PRAMEF12	390999	genome.wustl.edu	37	1	12837281	12837281	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr1:12837281C>A	ENST00000357726.4	+	3	1018	c.991C>A	c.(991-993)Ctg>Atg	p.L331M		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	331					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L331M(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCATCACACTGACCCATTT	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											94	96	95					1																	12837281		2203	4300	6503	12759868	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.991C>A	1.37:g.12837281C>A	ENSP00000350358:p.Leu331Met		12759868		Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535583	0.27475	.	.	ENSG00000116726	ENST00000357726	T	0.01388	4.95	2.83	0.782	0.18567	.	0.215920	0.31031	N	0.008387	T	0.04003	0.0112	L	0.60845	1.875	0.18873	N	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.36261	-0.9755	10	0.39692	T	0.17	.	3.6171	0.08082	0.4459:0.4257:0.0:0.1284	.	331	O95522	PRA12_HUMAN	M	331	ENSP00000350358:L331M	ENSP00000350358:L331M	L	+	1	2	PRAMEF12	12759868	0.003000	0.15002	0.200000	0.23457	0.178000	0.23041	-0.355000	0.07671	0.203000	0.20529	0.205000	0.17691	CTG		0.567	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		A	12837281	C	A	12837281	3	1	3	1	0	0	0	0	1	0	0	0	12431	564	20	3	1001	3	PRAMEF12	1	12837281	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09		12837281	236413340	1	97											
CELA2A	63036	genome.wustl.edu	37	1	15792585	15792585	+	Silent	SNP	C	C	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr1:15792585C>T	ENST00000359621.4	+	6	610	c.585C>T	c.(583-585)agC>agT	p.S195S	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)	p.S195S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGGGCAGCAGCGTGAAAACCA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1											152	143	146					1																	15792585		2203	4300	6503	15665172	SO:0001819	synonymous_variant	63036				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.585C>T	1.37:g.15792585C>T			15665172	B2R5I4|Q14243	Silent	SNP	ENST00000359621.4	37	CCDS157.1																																																																																				0.582	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		T	15792585	C	T	15792585	2	4	3	1	0	0	0	0	0	0	0	1	3211	767	27	1		1	CELA2A	1	15792585	Silent	SNP	C	TCGA-04-1336-01A-01W-0488-09	2955304	15792585	233458036	2	98											
IQCC	55721	genome.wustl.edu	37	1	32671824	32671824	+	Missense_Mutation	SNP	C	C	G	rs560946593		TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr1:32671824C>G	ENST00000291358.6	+	2	133	c.112C>G	c.(112-114)Cga>Gga	p.R38G	RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank|IQCC_ENST00000537469.1_Missense_Mutation_p.R118G	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	38								p.R38G(1)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCGATTGTACGAGAGGTCGA	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		18498	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											84	86	85					1																	32671824		2203	4300	6503	32444411	SO:0001583	missense	55721			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.112C>G	1.37:g.32671824C>G	ENSP00000291358:p.Arg38Gly		32444411	F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	CCDS355.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929302	0.34096	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.11930	2.73;2.73	5.13	4.21	0.49690	.	0.733693	0.11618	N	0.546049	T	0.14313	0.0346	L	0.47716	1.5	0.29097	N	0.881706	B;B	0.12630	0.006;0.003	B;B	0.15052	0.012;0.012	T	0.06588	-1.0818	10	0.48119	T	0.1	-4.0E-4	10.0257	0.42070	0.1814:0.6783:0.1403:0.0	.	118;38	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	G	118;38	ENSP00000442291:R118G;ENSP00000291358:R38G	ENSP00000291358:R38G	R	+	1	2	IQCC	32444411	0.060000	0.20803	0.734000	0.30879	0.550000	0.35303	0.616000	0.24344	1.509000	0.48786	0.655000	0.94253	CGA		0.617	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		G	32671824	C	G	32671824	3	3	3	1	0	0	0	0	1	0	0	0	7804	528	19	3	358	3	IQCC	1	32671824	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09	16879239	32671824	216578797	3	99											
SFPQ	6421	genome.wustl.edu	37	1	35654799	35654807	+	In_Frame_Del	DEL	GATTTGCCT	GATTTGCCT	-			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	GATTTGCCT	GATTTGCCT	GATTTGCCT	-	GATTTGCCT	GATTTGCCT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr1:35654799_35654807delGATTTGCCT	ENST00000357214.5	-	5	1690_1698	c.1592_1600delAGGCAAATC	c.(1591-1602)caggcaaatctt>ctt	p.QAN531del		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	531					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q531_N533del(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGCGCAAAAGATTTGCCTGATGTTCATG	0.349			T	TFE3	papillary renal cell																																		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	1	Deletion - In frame(1)	ovary(1)	1																																								35427394	SO:0001651	inframe_deletion	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1592_1600delAGGCAAATC	1.37:g.35654799_35654807delGATTTGCCT	ENSP00000349748:p.Gln531_Asn533del		35427386	P30808|Q5SZ71	In_Frame_Del	DEL	ENST00000357214.5	37	CCDS388.1																																																																																				0.349	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		-	35654807	GATTTGCCT	-	35654799	7	5	3	1	0	1	0	1	0	0	0	0	14163	942	33	0	547	0	SFPQ	1	35654799	In_Frame_Del	DEL	GATTTGCCT	TCGA-04-1336-01A-01W-0488-09	2982975	35654799	213595822	4	100											
ASTN1	460	genome.wustl.edu	37	1	176915067	176915082	+	Frame_Shift_Del	DEL	TGTTCCTTTCAGCACC	TGTTCCTTTCAGCACC	-	rs201509586|rs200570826		TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	TGTTCCTTTCAGCACC	TGTTCCTTTCAGCACC	TGTTCCTTTCAGCACC	-	TGTTCCTTTCAGCACC	TGTTCCTTTCAGCACC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr1:176915067_176915082delTGTTCCTTTCAGCACC	ENST00000367654.3	-	13	2464_2479	c.2253_2268delGGTGCTGAAAGGAACA	c.(2251-2268)caggtgctgaaaggaacafs	p.QVLKGT751fs	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Frame_Shift_Del_p.QVLKGT743fs|ASTN1_ENST00000424564.2_Frame_Shift_Del_p.QVLKGT743fs|ASTN1_ENST00000361833.2_Frame_Shift_Del_p.QVLKGT743fs	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	751					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.Q743fs*11(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTTACCTGAATGTTCCTTTCAGCACCTGTCCGGCAG	0.454																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								175181705	SO:0001589	frameshift_variant	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2253_2268delGGTGCTGAAAGGAACA	1.37:g.176915067_176915082delTGTTCCTTTCAGCACC	ENSP00000356626:p.Gln751fs		175181690	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Frame_Shift_Del	DEL	ENST00000367654.3	37																																																																																					0.454	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		-	176915082	TGTTCCTTTCAGCACC	-	176915067	7	5	3	1	0	1	0	1	0	0	0	0	1064	1451	51	0	1688	0	ASTN1	1	176915067	Frame_Shift_Del	DEL	TGTTCCTTTCAGCACC	TCGA-04-1336-01A-01W-0488-09	141260268	176915067	72335554	5	101											
LAMC1	3915	genome.wustl.edu	37	1	183093869	183093869	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr1:183093869T>A	ENST00000258341.4	+	14	2762	c.2505T>A	c.(2503-2505)gaT>gaA	p.D835E		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	835	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D835E(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACAACATCGATCCCAATGCAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											126	108	114					1																	183093869		2203	4300	6503	181360492	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2505T>A	1.37:g.183093869T>A	ENSP00000258341:p.Asp835Glu		181360492	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.708842	0.68615	.	.	ENSG00000135862	ENST00000258341	T	0.61392	0.11	5.51	-11.0	0.00169	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	L	0.59436	1.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.84020	0.0353	10	0.66056	D	0.02	.	25.4619	0.99994	0.0:0.8438:0.0:0.1562	.	835	P11047	LAMC1_HUMAN	E	835	ENSP00000258341:D835E	ENSP00000258341:D835E	D	+	3	2	LAMC1	181360492	0.781000	0.28676	0.057000	0.19452	0.331000	0.28603	-0.119000	0.10676	-2.699000	0.00399	-0.924000	0.02725	GAT		0.507	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		A	183093869	T	A	183093869	3	1	3	1	0	0	0	0	1	0	0	0	8614	1432	50	5	2559	5	LAMC1	1	183093869	Missense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09	6178802	183093869	66156752	6	102											
PLD5	200150	genome.wustl.edu	37	1	242287855	242287855	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr1:242287855C>A	ENST00000536534.2	-	6	1089	c.848G>T	c.(847-849)tGg>tTg	p.W283L	PLD5_ENST00000442594.2_Missense_Mutation_p.W191L|PLD5_ENST00000427495.1_Missense_Mutation_p.W221L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	283						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.W191L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TCTTTTGGACCAGGTTTGAGG	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											111	109	110					1																	242287855		2203	4300	6503	240354478	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.848G>T	1.37:g.242287855C>A	ENSP00000440896:p.Trp283Leu		240354478	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585501	0.86748	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.20598	2.06;2.06;2.06	5.61	5.61	0.85477	Phospholipase D/viral envelope (1);	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	M	0.89095	3.005	0.58432	D	0.999999	D;D;P	0.58970	0.97;0.984;0.944	P;P;P	0.54889	0.628;0.763;0.524	T	0.57015	-0.7883	10	0.72032	D	0.01	-8.618	17.4103	0.87484	0.0:1.0:0.0:0.0	.	191;283;221	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	L	221;191;283	ENSP00000401285:W221L;ENSP00000414188:W191L;ENSP00000440896:W283L	ENSP00000401285:W221L	W	-	2	0	PLD5	240354478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.984000	0.70548	2.636000	0.89361	0.655000	0.94253	TGG		0.383	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		A	242287855	C	A	242287855	3	1	3	1	0	0	0	0	1	0	0	0	12049	595	21	3	782	3	PLD5	1	242287855	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09	59193986	242287855	6962766	7	103											
ETAA1	54465	genome.wustl.edu	37	2	67631678	67631678	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr2:67631678C>G	ENST00000272342.5	+	5	1994	c.1864C>G	c.(1864-1866)Cag>Gag	p.Q622E	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	622						cytoplasm (GO:0005737)		p.Q622E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AAGACTAACTCAGCAACAAGA	0.343																																																1	Substitution - Missense(1)	ovary(1)	2											122	124	123					2																	67631678		2203	4300	6503	67485182	SO:0001583	missense	54465			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1864C>G	2.37:g.67631678C>G	ENSP00000272342:p.Gln622Glu		67485182	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	5.994	0.367359	0.11352	.	.	ENSG00000143971	ENST00000272342	T	0.27720	1.65	5.53	3.59	0.41128	.	0.323653	0.33477	N	0.004872	T	0.33498	0.0865	M	0.71581	2.175	0.22156	N	0.999324	B	0.15141	0.012	B	0.19666	0.026	T	0.36114	-0.9761	10	0.72032	D	0.01	-7.5543	11.0087	0.47651	0.245:0.6322:0.1227:0.0	.	622	Q9NY74	ETAA1_HUMAN	E	622	ENSP00000272342:Q622E	ENSP00000272342:Q622E	Q	+	1	0	ETAA1	67485182	1.000000	0.71417	0.982000	0.44146	0.082000	0.17680	1.602000	0.36783	1.449000	0.47699	-0.176000	0.13171	CAG		0.343	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		G	67631678	C	G	67631678	3	3	3	1	0	0	0	0	1	0	0	0	5267	827	29	3	1882	3	ETAA1	2	67631678	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09		67631678	175567695	8	104											
PXK	54899	genome.wustl.edu	37	3	58368240	58368240	+	Splice_Site	SNP	G	G	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr3:58368240G>T	ENST00000356151.2	+	4	310		c.e4-1		PXK_ENST00000484288.1_Splice_Site|PXK_ENST00000383715.4_Splice_Site|PXK_ENST00000536660.1_Intron|PXK_ENST00000463280.1_Splice_Site|PXK_ENST00000383716.3_Splice_Site|PXK_ENST00000479241.1_Splice_Site|PXK_ENST00000302779.5_Splice_Site	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.?(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TTTTTTTAAAGATTGCAGGCC	0.333																																																1	Unknown(1)	ovary(1)	3											45	46	45					3																	58368240		2203	4300	6503	58343280	SO:0001630	splice_region_variant	54899			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.202-1G>T	3.37:g.58368240G>T			58343280		Splice_Site	SNP	ENST00000356151.2	37	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604215	0.66445	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000491164	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9857	0.97347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PXK	58343280	1.000000	0.71417	0.991000	0.47740	0.626000	0.37791	7.370000	0.79589	2.706000	0.92434	0.655000	0.94253	.		0.333	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771	Intron	T	58368240	G	T	58368240	5	4	3	1	0	0	0	0	0	0	1	0	12852	956	33	3	215	3	PXK	3	58368240	Splice_Site	SNP	G	TCGA-04-1336-01A-01W-0488-09		58368240	139654190	9	105											
PAK2	5062	genome.wustl.edu	37	3	196509539	196509539	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr3:196509539G>A	ENST00000327134.3	+	2	344	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	8					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.E8K(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CGGAGAACTGGAAGATAAGCC	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											96	101	99					3																	196509539		2203	4300	6503	197993936	SO:0001583	missense	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.22G>A	3.37:g.196509539G>A	ENSP00000314067:p.Glu8Lys		197993936	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268189	0.95429	.	.	ENSG00000180370	ENST00000327134	T	0.72725	-0.68	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	M	0.74647	2.275	0.80722	D	1	P	0.46706	0.883	P	0.52424	0.698	D	0.83431	0.0038	10	0.87932	D	0	.	18.756	0.91833	0.0:0.0:1.0:0.0	.	8	Q13177	PAK2_HUMAN	K	8	ENSP00000314067:E8K	ENSP00000314067:E8K	E	+	1	0	PAK2	197993936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.143000	0.94623	2.456000	0.83038	0.655000	0.94253	GAA		0.413	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		A	196509539	G	A	196509539	3	1	3	1	0	0	0	0	1	0	0	0	11401	1175	41	2	24	2	PAK2	3	196509539	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	138141299	196509539	1512891	10	106											
C4orf35	85438	genome.wustl.edu	37	4	71201818	71201818	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr4:71201818G>C	ENST00000273936.5	+	1	1136	c.1062G>C	c.(1060-1062)aaG>aaC	p.K354N		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	354					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.K354N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGTACCTAAGATCACTGAGC	0.398																																																1	Substitution - Missense(1)	ovary(1)	4											95	95	95					4																	71201818		2203	4300	6503	71236407	SO:0001583	missense	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.1062G>C	4.37:g.71201818G>C	ENSP00000273936:p.Lys354Asn		71236407	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551055	0.13374	.	.	ENSG00000145309	ENST00000273936	T	0.26067	1.76	4.47	-6.77	0.01727	.	1.193380	0.06255	N	0.692745	T	0.10208	0.0250	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.25433	-1.0132	10	0.25751	T	0.34	.	1.1651	0.01813	0.405:0.1072:0.1479:0.3399	.	354	Q96KC9	CABS1_HUMAN	N	354	ENSP00000273936:K354N	ENSP00000273936:K354N	K	+	3	2	CABS1	71236407	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-1.449000	0.01938	-1.808000	0.00615	AAG		0.398	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		C	71201818	G	C	71201818	3	2	3	1	0	0	0	0	1	0	0	0	2265	933	33	3	1064	3	C4orf35	4	71201818	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09		71201818	119952458	11	107											
SHROOM3	57619	genome.wustl.edu	37	4	77661181	77661190	+	Frame_Shift_Del	DEL	TCTTCCAGGC	TCTTCCAGGC	-	rs140590590		TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	TCTTCCAGGC	TCTTCCAGGC	TCTTCCAGGC	-	TCTTCCAGGC	TCTTCCAGGC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr4:77661181_77661190delTCTTCCAGGC	ENST00000296043.6	+	5	2808_2817	c.1855_1864delTCTTCCAGGC	c.(1855-1866)tcttccaggctcfs	p.SSRL619fs		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	619					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.S619fs*25(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGACAAGAGATCTTCCAGGCTCTCAGAGCC	0.562																																																1	Deletion - Frameshift(1)	ovary(1)	4																																								77880214	SO:0001589	frameshift_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1855_1864delTCTTCCAGGC	4.37:g.77661181_77661190delTCTTCCAGGC	ENSP00000296043:p.Ser619fs		77880205	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Frame_Shift_Del	DEL	ENST00000296043.6	37	CCDS3579.2																																																																																				0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		-	77661190	TCTTCCAGGC	-	77661181	7	5	3	1	0	1	0	1	0	0	0	0	14298	1435	50	0	1873	0	SHROOM3	4	77661181	Frame_Shift_Del	DEL	TCTTCCAGGC	TCGA-04-1336-01A-01W-0488-09	6459363	77661181	113493095	12	108											
HERC5	51191	genome.wustl.edu	37	4	89407376	89407376	+	Silent	SNP	T	T	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr4:89407376T>C	ENST00000264350.3	+	14	2001	c.1848T>C	c.(1846-1848)acT>acC	p.T616T	HERC5_ENST00000508159.1_Silent_p.T254T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	616					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.T616T(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGAAAATGACTGTGGTAGGTA	0.373																																					Esophageal Squamous(39;887 1012 34045 50514)											1	Substitution - coding silent(1)	ovary(1)	4											111	112	112					4																	89407376		2203	4300	6503	89626399	SO:0001819	synonymous_variant	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1848T>C	4.37:g.89407376T>C			89626399	B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	CCDS3630.1																																																																																				0.373	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		C	89407376	T	C	89407376	2	2	3	1	0	0	0	0	0	0	0	1	7061	1567	55	4		4	HERC5	4	89407376	Silent	SNP	T	TCGA-04-1336-01A-01W-0488-09	11746195	89407376	101746900	13	109											
ALPK1	80216	genome.wustl.edu	37	4	113352162	113352162	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr4:113352162G>A	ENST00000458497.1	+	11	1738	c.1459G>A	c.(1459-1461)Gga>Aga	p.G487R	ALPK1_ENST00000177648.9_Missense_Mutation_p.G487R|ALPK1_ENST00000504176.2_Missense_Mutation_p.G409R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	487							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G487R(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGCAAAAACAGGAGTCTGCAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											53	56	55					4																	113352162		2203	4300	6503	113571611	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1459G>A	4.37:g.113352162G>A	ENSP00000398048:p.Gly487Arg		113571611	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967183	0.53507	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.32515	1.45;1.45;1.45	5.48	4.64	0.57946	.	0.256077	0.33199	N	0.005162	T	0.29458	0.0734	L	0.59912	1.85	0.26891	N	0.967338	P;P;B	0.43287	0.717;0.802;0.39	B;B;B	0.34931	0.179;0.192;0.055	T	0.27606	-1.0069	10	0.87932	D	0	-3.7656	14.3607	0.66768	0.071:0.0:0.929:0.0	.	409;409;487	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	487;487;409	ENSP00000398048:G487R;ENSP00000177648:G487R;ENSP00000426044:G409R	ENSP00000177648:G487R	G	+	1	0	ALPK1	113571611	0.994000	0.37717	0.022000	0.16811	0.963000	0.63663	3.398000	0.52579	1.314000	0.45095	0.655000	0.94253	GGA		0.358	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		A	113352162	G	A	113352162	3	1	3	1	0	0	0	0	1	0	0	0	544	1001	35	2	1493	2	ALPK1	4	113352162	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	23944786	113352162	77802114	14	110											
MTNR1A	4543	genome.wustl.edu	37	4	187455308	187455308	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr4:187455308G>T	ENST00000307161.5	-	2	789	c.588C>A	c.(586-588)ttC>ttA	p.F196L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	196					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)	p.F196L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGGGGACGAGGAAGTGGAAAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	4											144	142	142					4																	187455308		2203	4300	6503	187692302	SO:0001583	missense	4543				CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.588C>A	4.37:g.187455308G>T	ENSP00000302811:p.Phe196Leu		187692302	A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044599	0.36085	.	.	ENSG00000168412	ENST00000307161	T	0.76578	-1.03	4.96	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88303	0.6400	M	0.92691	3.335	0.49915	D	0.999832	P	0.50272	0.933	D	0.64687	0.928	D	0.88418	0.3026	10	0.87932	D	0	-27.4492	8.1676	0.31237	0.3128:0.0:0.6872:0.0	.	196	P48039	MTR1A_HUMAN	L	196	ENSP00000302811:F196L	ENSP00000302811:F196L	F	-	3	2	MTNR1A	187692302	1.000000	0.71417	0.688000	0.30117	0.136000	0.21042	2.855000	0.48333	1.082000	0.41137	0.655000	0.94253	TTC		0.552	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			T	187455308	G	T	187455308	3	4	3	1	0	0	0	0	1	0	0	0	9951	1165	41	3	468	3	MTNR1A	4	187455308	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	74103146	187455308	3698968	15	111											
PCDHB9	57717	genome.wustl.edu	37	5	140567370	140567370	+	IGR	SNP	C	C	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr5:140567370C>A	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)			AGCACAGGATCCAGATGAAGG	0.388																																																0			5											111	124	120					5																	140567370		2195	4296	6491	140547554	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.140567370C>A			140547554	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.388	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140567370	C	A	140567370	1	1	3	0	1	0	0	0	0	0	0	0	11549	855	30	3		3	PCDHB9	5	140567370	IGR	SNP	C	TCGA-04-1336-01A-01W-0488-09		140567370	40347890	16	112											
ATP10B	23120	genome.wustl.edu	37	5	160047637	160047637	+	Silent	SNP	G	G	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr5:160047637G>A	ENST00000327245.5	-	15	2979	c.2133C>T	c.(2131-2133)gcC>gcT	p.A711A	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	711					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A711A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCAGGCCTGGCCAGGTCTG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	5											32	36	35					5																	160047637		2093	4234	6327	159980215	SO:0001819	synonymous_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2133C>T	5.37:g.160047637G>A			159980215	Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																				0.632	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		A	160047637	G	A	160047637	2	1	3	1	0	0	0	0	0	0	0	1	1117	1335	47	2		2	ATP10B	5	160047637	Silent	SNP	G	TCGA-04-1336-01A-01W-0488-09	19480267	160047637	20867623	17	113											
HIST1H3B	8358	genome.wustl.edu	37	6	26032138	26032138	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr6:26032138C>G	ENST00000244661.2	-	1	150	c.151G>C	c.(151-153)Gag>Cag	p.E51Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	51					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E51Q(1)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CGGCGGATCTCGCGCAGAGCC	0.627																																																1	Substitution - Missense(1)	ovary(1)	6											56	67	63					6																	26032138		2203	4300	6503	26140117	SO:0001583	missense	8358			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.151G>C	6.37:g.26032138C>G	ENSP00000244661:p.Glu51Gln		26140117	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.959673	0.74016	.	.	ENSG00000124693	ENST00000244661	T	0.56941	0.43	5.19	5.19	0.71726	.	.	.	.	.	T	0.65502	0.2697	.	.	.	0.45330	D	0.998322	.	.	.	.	.	.	T	0.69610	-0.5099	6	0.87932	D	0	.	18.0628	0.89382	0.0:1.0:0.0:0.0	.	.	.	.	Q	51	ENSP00000244661:E51Q	ENSP00000244661:E51Q	E	-	1	0	HIST1H3B	26140117	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	7.588000	0.82629	2.577000	0.86979	0.561000	0.74099	GAG		0.627	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		G	26032138	C	G	26032138	3	3	3	1	0	0	0	0	1	0	0	0	7156	893	31	3	263	3	HIST1H3B	6	26032138	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09		26032138	145082929	18	114											
SYNGAP1	8831	genome.wustl.edu	37	6	33410706	33410706	+	Nonsense_Mutation	SNP	A	A	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr6:33410706A>T	ENST00000418600.2	+	15	2478	c.2377A>T	c.(2377-2379)Aag>Tag	p.K793*	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.K734*|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.K793*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	793					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.K793*(1)|p.K778*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AACCAAGGAAAAGCCACCCCC	0.587																																																2	Substitution - Nonsense(2)	ovary(2)	6											65	67	66					6																	33410706		2203	4299	6502	33518684	SO:0001587	stop_gained	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2377A>T	6.37:g.33410706A>T	ENSP00000403636:p.Lys793*		33518684	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Nonsense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	A	39	7.708481	0.98447	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	.	.	.	4.52	4.52	0.55395	.	0.579771	0.17397	N	0.175684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	11.8301	0.52290	1.0:0.0:0.0:0.0	.	.	.	.	X	793;793;779;734	.	ENSP00000293748:K793X	K	+	1	0	SYNGAP1	33518684	0.982000	0.34865	0.904000	0.35570	0.984000	0.73092	3.048000	0.49862	1.899000	0.54978	0.482000	0.46254	AAG		0.587	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		T	33410706	A	T	33410706	4	4	3	1	0	0	0	0	0	1	0	0	15447	15	1	5	2435	5	SYNGAP1	6	33410706	Nonsense_Mutation	SNP	A	TCGA-04-1336-01A-01W-0488-09	7378568	33410706	137704361	19	115											
C6orf106	64771	genome.wustl.edu	37	6	34574605	34574605	+	Silent	SNP	C	C	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr6:34574605C>A	ENST00000374023.3	-	4	831	c.588G>T	c.(586-588)acG>acT	p.T196T	C6orf106_ENST00000374021.1_Silent_p.T122T|C6orf106_ENST00000374026.3_Silent_p.T130T	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	196								p.T196T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TGTTGAACTCCGTTTCAAAAG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	6											85	76	79					6																	34574605		2203	4300	6503	34682583	SO:0001819	synonymous_variant	64771			AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.588G>T	6.37:g.34574605C>A			34682583	B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Silent	SNP	ENST00000374023.3	37	CCDS4796.1																																																																																				0.438	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		A	34574605	C	A	34574605	2	1	3	1	0	0	0	0	0	0	0	1	2319	639	23	3		3	C6orf106	6	34574605	Silent	SNP	C	TCGA-04-1336-01A-01W-0488-09	1163899	34574605	136540462	20	116											
UHRF1BP1	54887	genome.wustl.edu	37	6	34826094	34826094	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr6:34826094T>A	ENST00000192788.5	+	14	2132	c.1961T>A	c.(1960-1962)gTt>gAt	p.V654D	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.V654D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	654							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.V654D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTTCCTAAGGTTCCAGGTGGC	0.488																																																1	Substitution - Missense(1)	ovary(1)	6											183	167	172					6																	34826094		1928	4144	6072	34934072	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1961T>A	6.37:g.34826094T>A	ENSP00000192788:p.Val654Asp		34934072	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.314101	0.23908	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.07327	3.21;3.2	5.65	3.28	0.37604	.	0.201485	0.41712	D	0.000837	T	0.01558	0.0050	N	0.14661	0.345	0.26695	N	0.971273	B	0.02656	0.0	B	0.01281	0.0	T	0.44726	-0.9309	10	0.44086	T	0.13	-9.6803	7.799	0.29164	0.0:0.2505:0.0:0.7495	.	654	Q6BDS2	URFB1_HUMAN	D	654	ENSP00000192788:V654D;ENSP00000400628:V654D	ENSP00000192788:V654D	V	+	2	0	UHRF1BP1	34934072	0.094000	0.21725	0.937000	0.37676	0.979000	0.70002	0.485000	0.22324	0.948000	0.37687	0.533000	0.62120	GTT		0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		A	34826094	T	A	34826094	3	1	3	1	0	0	0	0	1	0	0	0	16968	1725	60	5	2015	5	UHRF1BP1	6	34826094	Missense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09	251489	34826094	136288973	21	117											
C6orf142	90523	genome.wustl.edu	37	6	54095609	54095609	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr6:54095609C>T	ENST00000274897.5	+	11	1324	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.S939L	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	404						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.S404L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAGACCCTCTCACATGCTGAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											295	261	272					6																	54095609		2203	4300	6503	54203568	SO:0001583	missense	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1211C>T	6.37:g.54095609C>T	ENSP00000274897:p.Ser404Leu		54203568	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042296	0.55003	.	.	ENSG00000146147	ENST00000274897;ENST00000502396	T;T	0.26957	2.07;1.7	5.59	2.72	0.32119	.	0.877043	0.09565	N	0.785039	T	0.06462	0.0166	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.12156	0.007;0.001	T	0.35624	-0.9781	10	0.56958	D	0.05	.	7.1714	0.25721	0.0:0.7298:0.0:0.2702	.	939;404	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	L	404;939	ENSP00000274897:S404L;ENSP00000426290:S939L	ENSP00000274897:S404L	S	+	2	0	MLIP	54203568	0.002000	0.14202	0.093000	0.20910	0.745000	0.42441	0.406000	0.21032	1.289000	0.44618	0.650000	0.86243	TCA		0.512	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		T	54095609	C	T	54095609	3	4	3	1	0	0	0	0	1	0	0	0	2333	838	29	2	1253	2	C6orf142	6	54095609	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09	19269515	54095609	117019458	22	118											
ELN	2006	genome.wustl.edu	37	7	73474510	73474510	+	Silent	SNP	G	G	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr7:73474510G>A	ENST00000252034.7	+	24	2016	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	ELN_ENST00000380553.4_Silent_p.Q403Q|ELN_ENST00000380575.4_Silent_p.Q510Q|ELN_ENST00000380562.4_Silent_p.Q545Q|ELN_ENST00000380576.5_Silent_p.Q520Q|ELN_ENST00000380584.4_Intron|ELN_ENST00000320399.6_Silent_p.Q539Q|ELN_ENST00000320492.7_Silent_p.Q458Q|ELN_ENST00000458204.1_Silent_p.Q529Q|ELN_ENST00000357036.5_Silent_p.Q544Q|ELN_ENST00000429192.1_Silent_p.Q525Q|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Silent_p.Q515Q|ELN_ENST00000445912.1_Silent_p.Q539Q|ELN_ENST00000358929.4_Silent_p.Q574Q	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.Q539Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCAAAGCCCAGCTCCGTGAGT	0.642			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	1	Substitution - coding silent(1)	ovary(1)	7											86	92	90					7																	73474510		2203	4300	6503	73112446	SO:0001819	synonymous_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1617G>A	7.37:g.73474510G>A			73112446	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																				0.642	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		A	73474510	G	A	73474510	2	1	3	1	0	0	0	0	0	0	0	1	5071	962	34	2		2	ELN	7	73474510	Silent	SNP	G	TCGA-04-1336-01A-01W-0488-09		73474510	85664153	23	119											
MAGI2	9863	genome.wustl.edu	37	7	77885426	77885426	+	Silent	SNP	C	C	G			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr7:77885426C>G	ENST00000354212.4	-	10	2134	c.1881G>C	c.(1879-1881)cgG>cgC	p.R627R	MAGI2_ENST00000419488.1_Silent_p.R627R|MAGI2_ENST00000536571.1_Silent_p.R459R|MAGI2_ENST00000535697.1_Silent_p.R464R|MAGI2_ENST00000522391.1_Silent_p.R627R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	627	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.R627R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTGTTTCACCCGCTGTCCTG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	7											72	61	65					7																	77885426		2203	4300	6503	77723362	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1881G>C	7.37:g.77885426C>G			77723362	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																				0.512	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		G	77885426	C	G	77885426	2	3	3	1	0	0	0	0	0	0	0	1	9191	610	22	3		3	MAGI2	7	77885426	Silent	SNP	C	TCGA-04-1336-01A-01W-0488-09	4410916	77885426	81253237	24	120											
LAMB1	3912	genome.wustl.edu	37	7	107592639	107592639	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr7:107592639G>T	ENST00000222399.6	-	23	3339	c.3109C>A	c.(3109-3111)Caa>Aaa	p.Q1037K	LAMB1_ENST00000393561.1_Missense_Mutation_p.Q1061K	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1037	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.Q1037K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CAGTGCTCTTGCACGGTGCCC	0.507																																																1	Substitution - Missense(1)	ovary(1)	7											72	57	62					7																	107592639		2203	4300	6503	107379875	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3109C>A	7.37:g.107592639G>T	ENSP00000222399:p.Gln1037Lys		107379875	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	2.545	-0.305322	0.05495	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.61158	0.13;0.13	5.24	3.37	0.38596	EGF-like, laminin (3);	.	.	.	.	T	0.44307	0.1287	N	0.25890	0.77	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.23261	-1.0193	9	0.30854	T	0.27	.	14.3982	0.67025	0.0:0.0:0.7229:0.2771	.	1037;1061	P07942;G3XAI2	LAMB1_HUMAN;.	K	1061;1037	ENSP00000377191:Q1061K;ENSP00000222399:Q1037K	ENSP00000222399:Q1037K	Q	-	1	0	LAMB1	107379875	0.006000	0.16342	0.124000	0.21820	0.496000	0.33645	1.614000	0.36911	0.840000	0.34995	0.655000	0.94253	CAA		0.507	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		T	107592639	G	T	107592639	3	4	3	1	0	0	0	0	1	0	0	0	8610	1328	46	3	2299	3	LAMB1	7	107592639	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	29707213	107592639	51546024	25	121											
DENND2A	27147	genome.wustl.edu	37	7	140244461	140244461	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr7:140244461G>T	ENST00000275884.6	-	13	2701	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M	DENND2A_ENST00000496613.1_Missense_Mutation_p.L762M|DENND2A_ENST00000492720.1_Missense_Mutation_p.L762M|DENND2A_ENST00000537639.1_Missense_Mutation_p.L762M			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	762	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L762M(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCAGAAGCAGGGAGGCAAAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											49	58	55					7																	140244461		2156	4271	6427	139890930	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2284C>A	7.37:g.140244461G>T	ENSP00000275884:p.Leu762Met		139890930	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782682	0.70222	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	4.95	4.05	0.47172	DENN (3);	0.095769	0.44483	N	0.000456	T	0.27524	0.0676	L	0.53780	1.695	0.46416	D	0.999031	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.969	T	0.01316	-1.1387	10	0.38643	T	0.18	-9.7595	7.8196	0.29280	0.1226:0.0:0.7311:0.1463	.	762;762	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	M	762;762;762;109;762	ENSP00000275884:L762M;ENSP00000442245:L762M;ENSP00000419654:L762M;ENSP00000420145:L109M;ENSP00000419464:L762M	ENSP00000275884:L762M	L	-	1	2	DENND2A	139890930	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.688000	0.61715	1.290000	0.44636	0.650000	0.86243	CTG		0.582	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		T	140244461	G	T	140244461	3	4	3	1	0	0	0	0	1	0	0	0	4429	991	35	3	773	3	DENND2A	7	140244461	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	32651822	140244461	18894202	26	122											
CSMD1	64478	genome.wustl.edu	37	8	2876120	2876124	+	Frame_Shift_Del	DEL	CGTTC	CGTTC	-	rs374916113		TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	CGTTC	CGTTC	CGTTC	-	CGTTC	CGTTC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr8:2876120_2876124delCGTTC	ENST00000520002.1	-	53	8462_8466	c.7907_7911delGAACG	c.(7906-7911)ggaacgfs	p.GT2636fs	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.GT2635fs|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.GT2636fs|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2636	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T2636T(2)|p.T2365T(2)		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)		AAACTGTCAACGTTCCAATCTTGTT	0.459																																																4	Substitution - coding silent(4)	large_intestine(2)|prostate(2)	8																																								2863531	SO:0001589	frameshift_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.7907_7911delGAACG	8.37:g.2876120_2876124delCGTTC	ENSP00000430733:p.Gly2636fs		2863527	Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	37																																																																																					0.459	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		-	2876124	CGTTC	-	2876120	7	5	3	1	0	1	0	1	0	0	0	0	3944	523	19	0	2862	0	CSMD1	8	2876120	Frame_Shift_Del	DEL	CGTTC	TCGA-04-1336-01A-01W-0488-09		2876120	143487902	27	123											
ZFHX4	79776	genome.wustl.edu	37	8	77763741	77763741	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr8:77763741T>A	ENST00000521891.2	+	10	5032	c.4584T>A	c.(4582-4584)aaT>aaA	p.N1528K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N1483K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N1502K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N1483K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N1528K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGGGCCCAATTTTACGATGG	0.408										HNSCC(33;0.089)																																						1	Substitution - Missense(1)	ovary(1)	8											47	46	46					8																	77763741		1882	4117	5999	77926296	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4584T>A	8.37:g.77763741T>A	ENSP00000430497:p.Asn1528Lys		77926296	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939722	0.34189	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.68;0.64;0.64	5.05	-1.45	0.08828	.	0.000000	0.47455	U	0.000230	T	0.53642	0.1809	L	0.58810	1.83	0.52501	D	0.99995	D;D;D	0.63880	0.988;0.993;0.993	P;P;P	0.60789	0.76;0.879;0.879	T	0.49652	-0.8917	10	0.40728	T	0.16	.	9.7474	0.40455	0.0:0.3625:0.0:0.6375	.	1483;1483;1528	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	1528;1528;1483;1483;1502	ENSP00000430497:N1528K;ENSP00000399605:N1483K;ENSP00000050961:N1483K;ENSP00000430848:N1502K	ENSP00000050961:N1483K	N	+	3	2	ZFHX4	77926296	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	0.811000	0.27198	-0.397000	0.07691	-0.451000	0.05528	AAT		0.408	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77763741	T	A	77763741	3	1	3	1	0	0	0	0	1	0	0	0	17635	1490	52	5	4618	5	ZFHX4	8	77763741	Missense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09	74887621	77763741	68600281	28	124											
PSKH2	85481	genome.wustl.edu	37	8	87076291	87076291	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr8:87076291G>T	ENST00000276616.2	-	2	829	c.755C>A	c.(754-756)aCa>aAa	p.T252K	PSKH2_ENST00000517981.1_5'Flank	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T252K(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TAAAGCATATGTGATCACACC	0.443																																																1	Substitution - Missense(1)	ovary(1)	8											91	88	89					8																	87076291		2203	4300	6503	87145407	SO:0001583	missense	85481			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.755C>A	8.37:g.87076291G>T	ENSP00000276616:p.Thr252Lys		87145407	A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622809	0.66787	.	.	ENSG00000147613	ENST00000276616	T	0.66099	-0.19	4.98	3.14	0.36123	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.72787	0.3504	M	0.75447	2.3	0.28573	N	0.910525	D	0.53151	0.958	P	0.57468	0.821	T	0.66019	-0.6027	9	0.72032	D	0.01	.	9.8296	0.40932	0.0:0.1518:0.6908:0.1575	.	252	Q96QS6	KPSH2_HUMAN	K	252	ENSP00000276616:T252K	ENSP00000276616:T252K	T	-	2	0	PSKH2	87145407	1.000000	0.71417	0.077000	0.20336	0.937000	0.57800	4.409000	0.59768	0.462000	0.27095	0.655000	0.94253	ACA		0.443	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		T	87076291	G	T	87076291	3	4	3	1	0	0	0	0	1	0	0	0	12668	1377	48	3	408	3	PSKH2	8	87076291	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	9312550	87076291	59287731	29	125											
CDH17	1015	genome.wustl.edu	37	8	95172294	95172294	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr8:95172294T>C	ENST00000027335.3	-	12	1580	c.1456A>G	c.(1456-1458)Aaa>Gaa	p.K486E	CDH17_ENST00000441892.2_Missense_Mutation_p.K272E|CDH17_ENST00000450165.2_Missense_Mutation_p.K486E	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	486	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.K486E(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TACAGAATTTTAGAACTCCCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	8											121	124	123					8																	95172294		2203	4300	6503	95241470	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1456A>G	8.37:g.95172294T>C	ENSP00000027335:p.Lys486Glu		95241470	Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.491312	0.26774	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.53423	0.62;0.62;0.62	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000123	T	0.34745	0.0908	L	0.31294	0.92	0.29141	N	0.879038	B;P	0.35944	0.392;0.529	B;B	0.37943	0.261;0.137	T	0.26608	-1.0098	10	0.23302	T	0.38	-21.1446	9.4224	0.38559	0.0:0.0:0.1789:0.8211	.	272;486	E7EN24;Q12864	.;CAD17_HUMAN	E	486;272;486	ENSP00000027335:K486E;ENSP00000392811:K272E;ENSP00000401468:K486E	ENSP00000027335:K486E	K	-	1	0	CDH17	95241470	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	1.396000	0.34531	1.999000	0.58509	0.459000	0.35465	AAA		0.438	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		C	95172294	T	C	95172294	3	2	3	1	0	0	0	0	1	0	0	0	3102	1763	61	4	1070	4	CDH17	8	95172294	Missense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09	8096003	95172294	51191728	30	126											
DPYS	1807	genome.wustl.edu	37	8	105459698	105459698	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr8:105459698T>C	ENST00000351513.2	-	3	589	c.457A>G	c.(457-459)Aaa>Gaa	p.K153E		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	153					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.K153E(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTAACACCTTTATCTTGCACA	0.368																																																1	Substitution - Missense(1)	ovary(1)	8											121	110	114					8																	105459698		2203	4300	6503	105528874	SO:0001583	missense	1807			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.457A>G	8.37:g.105459698T>C	ENSP00000276651:p.Lys153Glu		105528874		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424932	0.62733	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.89681	-2.53;-2.55	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.046077	0.85682	D	0.000000	D	0.85186	0.5639	N	0.25957	0.775	0.46927	D	0.999258	B	0.33299	0.407	B	0.38880	0.284	D	0.83846	0.0260	10	0.38643	T	0.18	-24.7732	16.5494	0.84464	0.0:0.0:0.0:1.0	.	153	Q14117	DPYS_HUMAN	E	153;100	ENSP00000276651:K153E;ENSP00000430246:K100E	ENSP00000276651:K153E	K	-	1	0	DPYS	105528874	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	5.903000	0.69877	2.299000	0.77371	0.528000	0.53228	AAA		0.368	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		C	105459698	T	C	105459698	3	2	3	1	0	0	0	0	1	0	0	0	4746	1763	61	4	1130	4	DPYS	8	105459698	Missense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09	10287404	105459698	40904324	31	127											
OC90	729330	genome.wustl.edu	37	8	133045304	133045304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr8:133045304C>A	ENST00000443356.2	-	12	975	c.889G>T	c.(889-891)Gag>Tag	p.E297*	OC90_ENST00000254627.3_Nonsense_Mutation_p.E281*|OC90_ENST00000262283.5_Nonsense_Mutation_p.E493*|OC90_ENST00000603859.1_Nonsense_Mutation_p.E281*			Q02509	OC90_HUMAN	otoconin 90	297					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.E255*(1)|p.E493*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GTGGTCTCCTCAGGATCATTT	0.483																																																2	Substitution - Nonsense(2)	ovary(2)	8											68	73	71					8																	133045304		1989	4172	6161	133114486	SO:0001587	stop_gained	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.889G>T	8.37:g.133045304C>A	ENSP00000390050:p.Glu297*		133114486	B4DNG8	Nonsense_Mutation	SNP	ENST00000443356.2	37		.	.	.	.	.	.	.	.	.	.	C	25.8	4.672496	0.88348	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	.	.	.	4.67	1.71	0.24356	.	0.844176	0.10866	N	0.625492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-3.9641	12.4332	0.55584	0.0:0.4709:0.5291:0.0	.	.	.	.	X	281;297;493	.	ENSP00000254627:E281X	E	-	1	0	RP11-240B13.2;OC90	133114486	0.000000	0.05858	0.004000	0.12327	0.072000	0.16883	0.220000	0.17660	0.376000	0.24707	0.655000	0.94253	GAG		0.483	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		A	133045304	C	A	133045304	4	1	3	1	0	0	0	0	0	1	0	0	10814	835	29	3	608	3	OC90	8	133045304	Nonsense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09	27585606	133045304	13318718	32	128											
KIFC2	90990	genome.wustl.edu	37	8	145692653	145692653	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr8:145692653G>A	ENST00000301332.2	+	4	775	c.398G>A	c.(397-399)aGc>aAc	p.S133N	CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000306145.5_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000403000.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	133					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S133N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGCTTCGAAGCCCCAGGGGG	0.617											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	8											49	57	55					8																	145692653		2203	4300	6503	145663461	SO:0001583	missense	90990			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.398G>A	8.37:g.145692653G>A	ENSP00000301332:p.Ser133Asn	1696	145663461	E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075900	0.76415	.	.	ENSG00000167702	ENST00000301332	T	0.53423	0.62	5.21	3.26	0.37387	.	0.000000	0.40554	N	0.001076	T	0.32882	0.0844	L	0.29908	0.895	0.80722	D	1	B	0.29909	0.261	B	0.29353	0.101	T	0.11567	-1.0582	10	0.32370	T	0.25	-9.0519	9.8717	0.41177	0.0:0.1513:0.6924:0.1563	.	133	Q96AC6	KIFC2_HUMAN	N	133	ENSP00000301332:S133N	ENSP00000301332:S133N	S	+	2	0	KIFC2	145663461	0.016000	0.18221	0.998000	0.56505	0.863000	0.49368	2.105000	0.41825	1.302000	0.44855	0.563000	0.77884	AGC		0.617	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		A	145692653	G	A	145692653	3	1	3	1	0	0	0	0	1	0	0	0	8313	971	34	2	412	2	KIFC2	8	145692653	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	12647349	145692653	671369	33	129											
ADAMTSL1	92949	genome.wustl.edu	37	9	18622344	18622344	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr9:18622344A>C	ENST00000380548.4	+	5	917	c.578A>C	c.(577-579)aAa>aCa	p.K193T	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K193T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K193T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K193T|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.K193T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	193						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K193T(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGCAGTATAAATCCCAGCTC	0.552																																																2	Substitution - Missense(2)	ovary(2)	9											75	74	74					9																	18622344		2203	4300	6503	18612344	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.578A>C	9.37:g.18622344A>C	ENSP00000369921:p.Lys193Thr		18612344	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900129	0.72754	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T	0.65732	0.1;0.76;-0.17;0.76;0.76	5.46	5.46	0.80206	.	.	.	.	.	T	0.62889	0.2465	N	0.16016	0.355	0.80722	D	1	D;B	0.76494	0.999;0.054	D;B	0.63488	0.915;0.036	T	0.64753	-0.6333	9	0.35671	T	0.21	.	15.8337	0.78782	1.0:0.0:0.0:0.0	.	193;193	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	T	193	ENSP00000369921:K193T;ENSP00000327887:K193T;ENSP00000369944:K193T;ENSP00000369940:K193T;ENSP00000276935:K193T	ENSP00000276935:K193T	K	+	2	0	ADAMTSL1	18612344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.098000	0.64548	2.206000	0.71126	0.533000	0.62120	AAA		0.552	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			C	18622344	A	C	18622344	3	2	3	1	0	0	0	0	1	0	0	0	274	14	1	5	596	5	ADAMTSL1	9	18622344	Missense_Mutation	SNP	A	TCGA-04-1336-01A-01W-0488-09		18622344	122591087	34	130											
CUBN	8029	genome.wustl.edu	37	10	16980963	16980963	+	Splice_Site	SNP	C	C	G			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr10:16980963C>G	ENST00000377833.4	-	38	5797	c.5732G>C	c.(5731-5733)aGg>aCg	p.R1911T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1911	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R1911T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAACTCACCCTTAATTTGTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	10											97	90	93					10																	16980963		2203	4300	6503	17020969	SO:0001630	splice_region_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5733+1G>C	10.37:g.16980963C>G			17020969	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	9.337	1.061948	0.19987	.	.	ENSG00000107611	ENST00000377833	T	0.17528	2.27	5.36	-4.61	0.03380	CUB (5);	0.554792	0.16415	N	0.215403	T	0.05181	0.0138	N	0.05467	-0.045	0.80722	D	1	B	0.17268	0.021	B	0.19148	0.024	T	0.35992	-0.9766	10	0.16420	T	0.52	.	3.4076	0.07347	0.2099:0.1211:0.1044:0.5646	.	1911	O60494	CUBN_HUMAN	T	1911	ENSP00000367064:R1911T	ENSP00000367064:R1911T	R	-	2	0	CUBN	17020969	1.000000	0.71417	0.854000	0.33618	0.606000	0.37113	0.760000	0.26475	-0.411000	0.07530	0.585000	0.79938	AGG		0.343	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Missense_Mutation	G	16980963	C	G	16980963	5	3	3	1	0	0	0	0	0	0	1	0	4051	695	24	3	5259	3	CUBN	10	16980963	Splice_Site	SNP	C	TCGA-04-1336-01A-01W-0488-09		16980963	118553784	35	131											
DLG5	9231	genome.wustl.edu	37	10	79576319	79576319	+	Silent	SNP	T	T	G			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr10:79576319T>G	ENST00000372391.2	-	20	4020	c.4015A>C	c.(4015-4017)Aga>Cga	p.R1339R	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.R999R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1339					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.R1339R(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGTCCTTTCTCCGCTCCCCG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	10											155	132	140					10																	79576319		2203	4300	6503	79246325	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4015A>C	10.37:g.79576319T>G			79246325	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																				0.627	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			G	79576319	T	G	79576319	2	3	3	1	0	0	0	0	0	0	0	1	4558	1559	54	5		5	DLG5	10	79576319	Silent	SNP	T	TCGA-04-1336-01A-01W-0488-09	62595356	79576319	55958428	36	132											
SLC1A2	6506	genome.wustl.edu	37	11	35308473	35308479	+	Frame_Shift_Del	DEL	GAAAGGT	GAAAGGT	-	rs141932906	byFrequency	TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	GAAAGGT	GAAAGGT	GAAAGGT	-	GAAAGGT	GAAAGGT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr11:35308473_35308479delGAAAGGT	ENST00000278379.3	-	8	1393_1399	c.1111_1117delACCTTTC	c.(1111-1119)acctttcgtfs	p.TFR371fs	SLC1A2_ENST00000395753.1_Frame_Shift_Del_p.TFR362fs|SLC1A2_ENST00000606205.1_Frame_Shift_Del_p.TFR371fs|SLC1A2_ENST00000479543.1_5'Flank|SLC1A2_ENST00000395750.1_Frame_Shift_Del_p.TFR362fs|RP1-68D18.3_ENST00000532760.1_RNA	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	371					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T371fs*13(1)|p.R373C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TCCAGGCAACGAAAGGTGACAGGCAAA	0.459																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)											2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)	11																																								35265055	SO:0001589	frameshift_variant	6506			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1111_1117delACCTTTC	11.37:g.35308473_35308479delGAAAGGT	ENSP00000278379:p.Thr371fs		35265049	B4DQE9|Q14417|Q541G6|U3KQQ4	Frame_Shift_Del	DEL	ENST00000278379.3	37	CCDS31459.1																																																																																				0.459	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		-	35308479	GAAAGGT	-	35308473	7	5	3	1	0	1	0	1	0	0	0	0	14435	1058	37	0	623	0	SLC1A2	11	35308473	Frame_Shift_Del	DEL	GAAAGGT	TCGA-04-1336-01A-01W-0488-09		35308473	99698043	37	133											
FLI1	2313	genome.wustl.edu	37	11	128680373	128680373	+	Silent	SNP	G	G	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr11:128680373G>A	ENST00000527786.2	+	9	1338	c.849G>A	c.(847-849)ctG>ctA	p.L283L	FLI1_ENST00000344954.6_Silent_p.L250L|FLI1_ENST00000534087.2_Silent_p.L250L|FLI1_ENST00000281428.8_Silent_p.L217L|FLI1_ENST00000525560.1_Silent_p.L90L	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	283					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L283L(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGATCCAGCTGTGGCAATTCC	0.602			T	EWSR1	Ewing sarcoma																																		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	1	Substitution - coding silent(1)	ovary(1)	11											16	18	18					11																	128680373		2178	4288	6466	128185583	SO:0001819	synonymous_variant	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.849G>A	11.37:g.128680373G>A			128185583	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	CCDS44768.1																																																																																				0.602	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		A	128680373	G	A	128680373	2	1	3	1	0	0	0	0	0	0	0	1	5924	1364	48	2		2	FLI1	11	128680373	Silent	SNP	G	TCGA-04-1336-01A-01W-0488-09	93371900	128680373	6326143	38	134											
NOP2	4839	genome.wustl.edu	37	12	6675291	6675291	+	Silent	SNP	A	A	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	A	A	C	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr12:6675291A>C	ENST00000322166.5	-	5	571	c.450T>G	c.(448-450)tcT>tcG	p.S150S	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Silent_p.S150S|NOP2_ENST00000382421.3_Silent_p.S150S|NOP2_ENST00000541778.1_Silent_p.S146S|NOP2_ENST00000545200.1_Silent_p.S146S|NOP2_ENST00000399466.2_Silent_p.S146S	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	150					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.S146S(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CCTCATCCTCAGAGTTGGAGT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	12											73	75	74					12																	6675291		2130	4225	6355	6545552	SO:0001819	synonymous_variant	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.450T>G	12.37:g.6675291A>C			6545552	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	ENST00000322166.5	37	CCDS58203.1																																																																																				0.478	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		C	6675291	A	C	6675291	2	2	3	1	0	0	0	0	0	0	0	1	10538	175	7	5		5	NOP2	12	6675291	Silent	SNP	A	TCGA-04-1336-01A-01W-0488-09		6675291	127176604	39	135											
ADAMTS20	80070	genome.wustl.edu	37	12	43846438	43846438	+	Silent	SNP	A	A	G			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr12:43846438A>G	ENST00000389420.3	-	13	1820	c.1821T>C	c.(1819-1821)acT>acC	p.T607T	ADAMTS20_ENST00000553158.1_Silent_p.T607T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	607	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T607T(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACATGAATCAGTATTACATG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	12											86	73	77					12																	43846438		2203	4300	6503	42132705	SO:0001819	synonymous_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1821T>C	12.37:g.43846438A>G			42132705	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		G	43846438	A	G	43846438	2	3	3	1	0	0	0	0	0	0	0	1	266	175	7	4		4	ADAMTS20	12	43846438	Silent	SNP	A	TCGA-04-1336-01A-01W-0488-09	37171147	43846438	90005457	40	136											
KRT6A	3853	genome.wustl.edu	37	12	52886881	52886881	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr12:52886881G>C	ENST00000330722.6	-	1	160	c.92C>G	c.(91-93)tCt>tGt	p.S31C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	31	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.S31C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGAAGCCAGAGCGGCTGAC	0.662																																																1	Substitution - Missense(1)	ovary(1)	12											38	48	44					12																	52886881		2202	4300	6502	51173148	SO:0001583	missense	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.92C>G	12.37:g.52886881G>C	ENSP00000369317:p.Ser31Cys		51173148	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546033	0.27652	.	.	ENSG00000205420	ENST00000330722	T	0.62639	0.01	5.24	3.36	0.38483	.	0.341865	0.25570	N	0.029761	T	0.57198	0.2037	M	0.66506	2.035	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.51340	-0.8718	10	0.42905	T	0.14	.	9.658	0.39939	0.0759:0.2822:0.6419:0.0	.	31	P02538	K2C6A_HUMAN	C	31	ENSP00000369317:S31C	ENSP00000369317:S31C	S	-	2	0	KRT6A	51173148	0.276000	0.24211	0.991000	0.47740	0.704000	0.40688	1.752000	0.38349	0.679000	0.31345	-0.325000	0.08501	TCT		0.662	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		C	52886881	G	C	52886881	3	2	3	1	0	0	0	0	1	0	0	0	8480	942	33	3	1638	3	KRT6A	12	52886881	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	9040443	52886881	80965014	41	137											
LNX2	222484	genome.wustl.edu	37	13	28155767	28155767	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	A	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr13:28155767T>A	ENST00000316334.3	-	2	203	c.74A>T	c.(73-75)gAa>gTa	p.E25V		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	25					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)	p.E25V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TTGGCCACATTCAAAACACAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	13											146	128	134					13																	28155767		2203	4300	6503	27053767	SO:0001583	missense	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.74A>T	13.37:g.28155767T>A	ENSP00000325929:p.Glu25Val		27053767	Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026318	0.35701	.	.	ENSG00000139517	ENST00000316334	T	0.05996	3.36	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.05731	0.0150	L	0.41632	1.29	0.80722	D	1	B	0.33212	0.402	B	0.26864	0.074	T	0.10753	-1.0616	10	0.02654	T	1	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	25	Q8N448	LNX2_HUMAN	V	25	ENSP00000325929:E25V	ENSP00000325929:E25V	E	-	2	0	LNX2	27053767	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.671000	0.83941	2.324000	0.78689	0.533000	0.62120	GAA		0.438	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			A	28155767	T	A	28155767	3	1	3	1	0	0	0	0	1	0	0	0	8866	1783	62	5	2034	5	LNX2	13	28155767	Missense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09		28155767	87014111	42	138											
EXOC5	10640	genome.wustl.edu	37	14	57698435	57698435	+	Splice_Site	SNP	T	T	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr14:57698435T>C	ENST00000413566.2	-	11	1298		c.e11-2		EXOC5_ENST00000340918.7_Splice_Site	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R315G(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TTGGTGGTTCTTTTCATGAAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	14											52	50	51					14																	57698435		1811	4068	5879	56768188	SO:0001630	splice_region_variant	10640			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.939-2A>G	14.37:g.57698435T>C			56768188	B2R6C5	Splice_Site	SNP	ENST00000413566.2	37	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379634	0.61845	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6972	0.77509	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC5	56768188	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.147000	0.64851	2.176000	0.68965	0.477000	0.44152	.		0.299	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544	Intron	C	57698435	T	C	57698435	5	2	3	1	0	0	0	0	0	0	1	0	5307	1623	56	4	1221	4	EXOC5	14	57698435	Splice_Site	SNP	T	TCGA-04-1336-01A-01W-0488-09		57698435	49651105	43	139											
AHNAK2	113146	genome.wustl.edu	37	14	105411723	105411723	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr14:105411723G>T	ENST00000333244.5	-	7	10184	c.10065C>A	c.(10063-10065)gaC>gaA	p.D3355E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3355						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D3355E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAATGCTGAGGTCAGTGGTCT	0.667																																																1	Substitution - Missense(1)	ovary(1)	14											131	139	136					14																	105411723		1995	4155	6150	104482768	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10065C>A	14.37:g.105411723G>T	ENSP00000353114:p.Asp3355Glu		104482768	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.58	1.981793	0.34942	.	.	ENSG00000185567	ENST00000333244	T	0.01228	5.14	4.65	-1.2	0.09554	.	1.100210	0.07350	U	0.882158	T	0.01489	0.0048	L	0.46670	1.46	0.09310	N	1	B	0.26363	0.147	B	0.35240	0.198	T	0.48948	-0.8989	10	0.02654	T	1	.	2.0353	0.03538	0.1507:0.3392:0.2773:0.2328	.	3355	Q8IVF2	AHNK2_HUMAN	E	3355	ENSP00000353114:D3355E	ENSP00000353114:D3355E	D	-	3	2	AHNAK2	104482768	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.149000	0.10204	-0.202000	0.10268	0.491000	0.48974	GAC		0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105411723	G	T	105411723	3	4	3	1	0	0	0	0	1	0	0	0	415	1252	44	3	7326	3	AHNAK2	14	105411723	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	47713288	105411723	1937817	44	140											
ELL3	80237	genome.wustl.edu	37	15	44066460	44066460	+	Missense_Mutation	SNP	G	G	A	rs186113630		TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr15:44066460G>A	ENST00000319359.3	-	9	1599	c.958C>T	c.(958-960)Cgt>Tgt	p.R320C	RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'UTR|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	320					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)	p.R320C(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GTCCCAACACGGGCATGCAGG	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		20015	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	15											129	108	115					15																	44066460		2198	4298	6496	41853752	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.958C>T	15.37:g.44066460G>A	ENSP00000320346:p.Arg320Cys		41853752	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	37	CCDS10102.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.78	3.695909	0.68386	.	.	ENSG00000128886	ENST00000319359	T	0.24723	1.84	5.92	5.0	0.66597	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.106982	0.43416	D	0.000571	T	0.54013	0.1832	M	0.85542	2.76	0.49798	D	0.999829	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.61133	-0.7124	10	0.87932	D	0	-15.1083	12.0971	0.53761	0.0:0.0:0.6878:0.3122	.	320;320;274	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	C	320	ENSP00000320346:R320C	ENSP00000320346:R320C	R	-	1	0	ELL3	41853752	0.874000	0.30092	0.437000	0.26809	0.919000	0.55068	1.740000	0.38228	1.488000	0.48433	0.557000	0.71058	CGT		0.517	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		A	44066460	G	A	44066460	3	1	3	1	0	0	0	0	1	0	0	0	5064	1116	39	1	247	1	ELL3	15	44066460	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09		44066460	58464932	45	141											
GABPB1	2553	genome.wustl.edu	37	15	50596256	50596257	+	Missense_Mutation	DNP	AC	AC	TA			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	AC	AC	TA	TA	AC	AC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr15:50596256_50596257AC>TA	ENST00000220429.8	-	3	350_351	c.182_183GT>TA	c.(181-183)gGT>gTA	p.G61V	GABPB1_ENST00000359031.4_Missense_Mutation_p.G61V|GABPB1_ENST00000429662.2_Missense_Mutation_p.G61V|GABPB1_ENST00000560825.1_Missense_Mutation_p.G61V|GABPB1_ENST00000396464.3_Missense_Mutation_p.G61V|GABPB1_ENST00000380877.3_Missense_Mutation_p.G61V|GABPB1_ENST00000543881.1_5'UTR			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	61					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CTCTGCTCACACCAGCTCGCAG	0.465																																																0			15																																								48383549	SO:0001583	missense	2553			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.182_183delinsTA	15.37:g.50596256_50596257delinsTA	ENSP00000220429:p.Gly61Val		48383548	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	DNP	ENST00000220429.8	37	CCDS32239.1																																																																																				0.465	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			TA	50596257	AC	TA	50596256	3	4	3	1	0	0	0	0	1	0	0	0	6158	146	6	5	1080	5	GABPB1	15	50596256	Missense_Mutation	DNP	AC	TCGA-04-1336-01A-01W-0488-09	6529796	50596256	51935136	46	142											
TNRC6A	27327	genome.wustl.edu	37	16	24803028	24803029	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	GG	GG	GG	TT	GG	GG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr16:24803028_24803029GG>TT	ENST00000395799.3	+	6	3194_3195	c.3065_3066GG>TT	c.(3064-3066)tGG>tTT	p.W1022F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.W1022F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1022	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTGAACATGTGGAACAAAAACG	0.46																																																0			16																																								24710530	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	Exception_encountered	16.37:g.24803028_24803029delinsTT	ENSP00000379144:p.Trp1022Phe		24710529	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	DNP	ENST00000395799.3	37	CCDS10624.2																																																																																				0.46	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		TT	24803029	GG	TT	24803028	3	4	3	1	0	0	0	0	1	0	0	0	16340	1357	47	3	3087	3	TNRC6A	16	24803028	Missense_Mutation	DNP	GG	TCGA-04-1336-01A-01W-0488-09		24803028	65551725	47	143											
SLC12A3	6559	genome.wustl.edu	37	16	56914076	56914076	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr16:56914076G>T	ENST00000563236.1	+	12	1503	c.1478G>T	c.(1477-1479)gGc>gTc	p.G493V	SLC12A3_ENST00000566786.1_Missense_Mutation_p.G492V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G492V|SLC12A3_ENST00000438926.2_Missense_Mutation_p.G493V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	493					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.G493V(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCACTGATCGGCTTCTTCGGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	16											49	39	43					16																	56914076		2198	4300	6498	55471577	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1478G>T	16.37:g.56914076G>T	ENSP00000456149:p.Gly493Val		55471577	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647988	0.67358	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.56	3.6	0.41247	Amino acid permease domain (1);	0.050269	0.85682	D	0.000000	T	0.76321	0.3971	M	0.80028	2.48	0.80722	D	1	P;D;D	0.89917	0.728;1.0;1.0	B;D;D	0.85130	0.43;0.997;0.995	T	0.74559	-0.3625	9	0.17832	T	0.49	.	12.42	0.55514	0.0813:0.0:0.9187:0.0	.	492;493;493	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	492;493	.	ENSP00000262502:G493V	G	+	2	0	SLC12A3	55471577	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.764000	0.55264	1.134000	0.42165	0.561000	0.74099	GGC		0.617	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			T	56914076	G	T	56914076	3	4	3	1	0	0	0	0	1	0	0	0	14387	1203	42	3	1524	3	SLC12A3	16	56914076	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	32111048	56914076	33440677	48	144											
ZFHX3	463	genome.wustl.edu	37	16	72821881	72821881	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr16:72821881A>T	ENST00000268489.5	-	10	10966	c.10294T>A	c.(10294-10296)Tcc>Acc	p.S3432T	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2518T|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3432					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S3432T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGAGGGGGGACACCTCACGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	16											56	64	61					16																	72821881		2198	4300	6498	71379382	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10294T>A	16.37:g.72821881A>T	ENSP00000268489:p.Ser3432Thr		71379382	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	9.692	1.152161	0.21371	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.87491	-2.26;-2.26	4.3	4.3	0.51218	.	0.000000	0.47852	D	0.000208	T	0.68988	0.3061	N	0.08118	0	0.44736	D	0.997732	B	0.06786	0.001	B	0.04013	0.001	T	0.62746	-0.6789	10	0.05721	T	0.95	.	9.2542	0.37573	0.9131:0.0:0.0869:0.0	.	3432	Q15911	ZFHX3_HUMAN	T	3432;2518	ENSP00000268489:S3432T;ENSP00000438926:S2518T	ENSP00000268489:S3432T	S	-	1	0	ZFHX3	71379382	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.701000	0.47094	1.719000	0.51432	0.455000	0.32223	TCC		0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72821881	A	T	72821881	3	4	3	1	0	0	0	0	1	0	0	0	17634	275	10	5	821	5	ZFHX3	16	72821881	Missense_Mutation	SNP	A	TCGA-04-1336-01A-01W-0488-09	15907805	72821881	17532872	49	145											
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	7518264	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	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	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	3	1	0	0	0	0	1	0	0	0	16381	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09		7577539	73617671	50	146											
ALOX15B	247	genome.wustl.edu	37	17	7948892	7948892	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr17:7948892C>T	ENST00000380183.4	+	8	1227	c.1088C>T	c.(1087-1089)gCc>gTc	p.A363V	ALOX15B_ENST00000380173.2_Missense_Mutation_p.A363V|ALOX15B_ENST00000573359.1_Missense_Mutation_p.A363V|ALOX15B_ENST00000572022.1_Missense_Mutation_p.A363V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	363	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.A363V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GTGCGCAATGCCGAGTTCTCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											112	82	92					17																	7948892		2203	4300	6503	7889617	SO:0001583	missense	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1088C>T	17.37:g.7948892C>T	ENSP00000369530:p.Ala363Val		7889617	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243393	0.58995	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.76839	-1.05;-1.05	4.53	4.53	0.55603	Lipoxygenase, C-terminal (4);	0.315824	0.33916	N	0.004424	D	0.89469	0.6724	M	0.90814	3.15	0.09310	N	1	D;D;D;D	0.67145	0.976;0.995;0.995;0.996	P;P;P;D	0.67900	0.904;0.897;0.897;0.954	D	0.83820	0.0246	10	0.87932	D	0	-9.1279	16.3899	0.83531	0.0:1.0:0.0:0.0	.	363;363;363;363	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	V	363	ENSP00000369520:A363V;ENSP00000369530:A363V	ENSP00000344337:A363V	A	+	2	0	ALOX15B	7889617	0.480000	0.25933	0.033000	0.17914	0.633000	0.38033	4.631000	0.61304	2.225000	0.72522	0.563000	0.77884	GCC		0.637	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			T	7948892	C	T	7948892	3	4	3	1	0	0	0	0	1	0	0	0	539	739	26	2	1118	2	ALOX15B	17	7948892	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09	371353	7948892	73246318	51	147											
MYO19	80179	genome.wustl.edu	37	17	34883526	34883526	+	Silent	SNP	C	C	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr17:34883526C>A	ENST00000431794.3	-	5	678	c.156G>T	c.(154-156)ctG>ctT	p.L52L	MYO19_ENST00000268852.9_Silent_p.L52L|MYO19_ENST00000586007.1_Silent_p.L52L|MYO19_ENST00000544606.1_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	52	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L52L(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGGCACCTCAGGACTGAGG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	17											58	61	60					17																	34883526		2006	4179	6185	31957639	SO:0001819	synonymous_variant	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.156G>T	17.37:g.34883526C>A			31957639	Q59GS4|Q9H5X2	Silent	SNP	ENST00000431794.3	37	CCDS54112.1																																																																																				0.512	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		A	34883526	C	A	34883526	2	1	3	1	0	0	0	0	0	0	0	1	10067	813	29	3		3	MYO19	17	34883526	Silent	SNP	C	TCGA-04-1336-01A-01W-0488-09	26934634	34883526	46311684	52	148											
C17orf71	55181	genome.wustl.edu	37	17	57288520	57288520	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr17:57288520C>T	ENST00000543872.2	+	2	1372	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	SMG8_ENST00000578922.1_Missense_Mutation_p.P370S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.P370S			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	370					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.P370S(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTTGCTGGTGCCTGCACCCCT	0.532																																																1	Substitution - Missense(1)	ovary(1)	17											86	73	77					17																	57288520		2203	4300	6503	54643302	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1108C>T	17.37:g.57288520C>T	ENSP00000438748:p.Pro370Ser		54643302	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104340	0.56291	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.42900	0.96;0.96	5.88	5.88	0.94601	.	0.386041	0.30930	N	0.008592	T	0.50599	0.1625	N	0.22421	0.69	0.43714	D	0.996189	D	0.62365	0.991	D	0.79108	0.992	T	0.36672	-0.9738	10	0.25106	T	0.35	-14.6927	17.3825	0.87408	0.0:1.0:0.0:0.0	.	370	Q8ND04	SMG8_HUMAN	S	370	ENSP00000300917:P370S;ENSP00000438748:P370S	ENSP00000300917:P370S	P	+	1	0	SMG8	54643302	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	4.145000	0.58065	2.769000	0.95229	0.655000	0.94253	CCT		0.532	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		T	57288520	C	T	57288520	3	4	3	1	0	0	0	0	1	0	0	0	1878	739	26	2	1110	2	C17orf71	17	57288520	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09	22404994	57288520	23906690	53	149											
RNF213	57674	genome.wustl.edu	37	17	78349654	78349654	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr17:78349654T>A	ENST00000582970.1	+	51	13312	c.13169T>A	c.(13168-13170)cTc>cAc	p.L4390H	RNF213_ENST00000508628.2_Missense_Mutation_p.L4439H|RNF213_ENST00000336301.6_Missense_Mutation_p.L2463H|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4390					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L4439H(1)|p.L2463H(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AATGCAAGCCTCCACCCCACG	0.478																																																2	Substitution - Missense(2)	ovary(2)	17											81	74	76					17																	78349654		2203	4300	6503	75964249	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13169T>A	17.37:g.78349654T>A	ENSP00000464087:p.Leu4390His		75964249	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791371	0.50102	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25749	1.78	5.54	5.54	0.83059	.	0.288076	0.32785	N	0.005656	T	0.49932	0.1586	M	0.76838	2.35	0.29783	N	0.833827	D;D	0.89917	1.0;0.995	D;P	0.72338	0.977;0.781	T	0.53272	-0.8462	10	0.33141	T	0.24	.	13.4119	0.60948	0.0:0.0:0.0:1.0	.	4439;2463	C9JCP4;Q63HN8	.;RN213_HUMAN	H	4390;4439;2463	ENSP00000338218:L2463H	ENSP00000338218:L2463H	L	+	2	0	RNF213	75964249	0.759000	0.28416	0.646000	0.29493	0.027000	0.11550	5.879000	0.69690	2.099000	0.63709	0.454000	0.30748	CTC		0.478	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78349654	T	A	78349654	3	1	3	1	0	0	0	0	1	0	0	0	13480	1551	54	5	13686	5	RNF213	17	78349654	Missense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09	21061134	78349654	2845556	54	150											
DSC2	1824	genome.wustl.edu	37	18	28666673	28666673	+	Nonsense_Mutation	SNP	T	T	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr18:28666673T>A	ENST00000280904.6	-	7	1251	c.808A>T	c.(808-810)Aaa>Taa	p.K270*	DSC2_ENST00000251081.6_Nonsense_Mutation_p.K270*	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	270	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K270*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGCTCATCTTTGTCAGTAGCA	0.453																																																1	Substitution - Nonsense(1)	ovary(1)	18											231	185	200					18																	28666673		2203	4300	6503	26920671	SO:0001587	stop_gained	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.808A>T	18.37:g.28666673T>A	ENSP00000280904:p.Lys270*		26920671		Nonsense_Mutation	SNP	ENST00000280904.6	37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887783	0.72410	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	.	.	.	5.61	1.79	0.24919	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.549	0.22423	0.0:0.0989:0.2884:0.6127	.	.	.	.	X	270;270;36;283	.	ENSP00000251081:K270X	K	-	1	0	DSC2	26920671	0.857000	0.29778	0.871000	0.34182	0.275000	0.26752	1.198000	0.32223	0.370000	0.24538	0.533000	0.62120	AAA		0.453	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		A	28666673	T	A	28666673	4	1	3	1	0	0	0	0	0	1	0	0	4766	1821	63	5	1977	5	DSC2	18	28666673	Nonsense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09		28666673	49410575	55	151											
FCGBP	8857	genome.wustl.edu	37	19	40354481	40354481	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr19:40354481C>T	ENST00000221347.6	-	35	15995	c.15988G>A	c.(15988-15990)Gtg>Atg	p.V5330M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5330	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.V5330M(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTACGACTCACGGACACAGAT	0.582																																																1	Substitution - Missense(1)	ovary(1)	19											54	42	46					19																	40354481		2203	4300	6503	45046321	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15988G>A	19.37:g.40354481C>T	ENSP00000221347:p.Val5330Met		45046321	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356451	0.41700	.	.	ENSG00000090920	ENST00000221347	T	0.62788	0.0	5.88	1.35	0.21983	von Willebrand factor, type D domain (3);	0.287287	0.23836	U	0.044095	T	0.67069	0.2854	M	0.78801	2.425	0.09310	N	1	D	0.56746	0.977	P	0.55713	0.782	T	0.56774	-0.7923	10	0.36615	T	0.2	.	4.5713	0.12210	0.1536:0.6023:0.0:0.2441	.	5330	Q9Y6R7	FCGBP_HUMAN	M	5330	ENSP00000221347:V5330M	ENSP00000221347:V5330M	V	-	1	0	FCGBP	45046321	0.000000	0.05858	0.001000	0.08648	0.428000	0.31595	-0.402000	0.07223	0.105000	0.17753	-0.293000	0.09583	GTG		0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40354481	C	T	40354481	3	4	3	1	0	0	0	0	1	0	0	0	5778	536	19	1	237	1	FCGBP	19	40354481	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09		40354481	18774502	56	152											
MAMSTR	284358	genome.wustl.edu	37	19	49216573	49216573	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr19:49216573G>A	ENST00000318083.6	-	10	1262	c.1199C>T	c.(1198-1200)tCt>tTt	p.S400F	MAMSTR_ENST00000377367.3_Missense_Mutation_p.S232F|MAMSTR_ENST00000594582.1_Missense_Mutation_p.S232F|MAMSTR_ENST00000356751.4_Missense_Mutation_p.S297F|MAMSTR_ENST00000419611.1_Missense_Mutation_p.S297F			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	400	Ser-rich.|Transcription activation. {ECO:0000250}.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)	p.S297F(1)		endometrium(1)|ovary(1)	2						GCTGGAGTCAGATAAGTCAGC	0.612											OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	19											20	23	22					19																	49216573		2187	4293	6480	53908385	SO:0001583	missense	284358			AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"MEF2-activating SAP transcriptional regulator"	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.1199C>T	19.37:g.49216573G>A	ENSP00000324175:p.Ser400Phe	960	53908385	B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642475	0.47153	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	4.2	4.2	0.49525	.	0.152382	0.30999	N	0.008443	T	0.61286	0.2335	L	0.53249	1.67	0.32582	N	0.52835	D	0.69078	0.997	P	0.60789	0.879	T	0.66594	-0.5884	9	0.32370	T	0.25	-11.2667	12.2332	0.54500	0.0:0.0:1.0:0.0	.	400	Q6ZN01	MASTR_HUMAN	F	400;297;232;297	.	ENSP00000324175:S400F	S	-	2	0	MAMSTR	53908385	1.000000	0.71417	0.999000	0.59377	0.640000	0.38277	2.275000	0.43399	2.348000	0.79779	0.297000	0.19635	TCT		0.612	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		A	49216573	G	A	49216573	3	1	3	1	0	0	0	0	1	0	0	0	9209	942	33	2	52	2	MAMSTR	19	49216573	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	8862092	49216573	9912410	57	153											
CPXM1	56265	genome.wustl.edu	37	20	2778850	2778850	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr20:2778850G>A	ENST00000380605.2	-	4	602	c.538C>T	c.(538-540)Cac>Tac	p.H180Y		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	180	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.H180Y(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGGGTGGGGTGCCCAGCGTCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	20											73	74	74					20																	2778850		2203	4300	6503	2726850	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.538C>T	20.37:g.2778850G>A	ENSP00000369979:p.His180Tyr		2726850	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	7.211	0.595421	0.13875	.	.	ENSG00000088882	ENST00000380605	D	0.98207	-4.79	4.41	3.41	0.39046	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.838212	0.10560	N	0.660433	D	0.96445	0.8840	N	0.25380	0.74	0.09310	N	1	P;P	0.48589	0.912;0.662	P;B	0.49887	0.625;0.212	D	0.91519	0.5233	10	0.72032	D	0.01	-0.0108	9.0866	0.36586	0.0:0.0:0.436:0.564	.	180;180	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	Y	180	ENSP00000369979:H180Y	ENSP00000369979:H180Y	H	-	1	0	CPXM1	2726850	0.003000	0.15002	0.035000	0.18076	0.023000	0.10783	1.389000	0.34453	0.934000	0.37316	0.563000	0.77884	CAC		0.602	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		A	2778850	G	A	2778850	3	1	3	1	0	0	0	0	1	0	0	0	3837	1319	46	2	1710	2	CPXM1	20	2778850	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09		2778850	60246670	58	154											
MYT1	4661	genome.wustl.edu	37	20	62871745	62871745	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr20:62871745G>C	ENST00000328439.1	+	23	3674	c.3310G>C	c.(3310-3312)Gag>Cag	p.E1104Q	MYT1_ENST00000536311.1_Missense_Mutation_p.E1131Q	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1104Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCAGGACCCGGAGAACAAGGA	0.552																																					GBM(59;481 1041 20555 21139 33705)											1	Substitution - Missense(1)	ovary(1)	20											120	95	103					20																	62871745		2203	4300	6503	62342189	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3310G>C	20.37:g.62871745G>C	ENSP00000327465:p.Glu1104Gln		62342189	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832626	0.71258	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.52754	0.66;0.65	5.42	5.42	0.78866	.	0.117709	0.56097	D	0.000037	T	0.67135	0.2861	M	0.78637	2.42	0.80722	D	1	P;D	0.59357	0.905;0.985	P;P	0.56865	0.745;0.808	T	0.70927	-0.4739	10	0.72032	D	0.01	-11.8077	19.5679	0.95403	0.0:0.0:1.0:0.0	.	1131;1104	F5H7M8;Q01538	.;MYT1_HUMAN	Q	1104;1131	ENSP00000327465:E1104Q;ENSP00000442412:E1131Q	ENSP00000327465:E1104Q	E	+	1	0	MYT1	62342189	1.000000	0.71417	0.820000	0.32676	0.970000	0.65996	9.725000	0.98778	2.702000	0.92279	0.655000	0.94253	GAG		0.552	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		C	62871745	G	C	62871745	3	2	3	1	0	0	0	0	1	0	0	0	10106	1175	41	3	3392	3	MYT1	20	62871745	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	60092895	62871745	153775	59	155											
KRTAP13-3	337960	genome.wustl.edu	37	21	31797972	31797972	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr21:31797972T>G	ENST00000390690.2	-	1	314	c.259A>C	c.(259-261)Atg>Ctg	p.M87L		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	87	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.M87L(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TTGCAGAGCATGTGAGTCCTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	21											64	72	69					21																	31797972		2200	4300	6500	30719843	SO:0001583	missense	337960			AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"Keratin associated proteins"	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.259A>C	21.37:g.31797972T>G	ENSP00000375109:p.Met87Leu		30719843	Q3LI78	Missense_Mutation	SNP	ENST00000390690.2	37	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	-	6.480	0.456702	0.12283	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.02737	4.18	4.69	-9.38	0.00623	.	1.618190	0.04401	U	0.364156	T	0.01489	0.0048	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46359	-0.9197	10	0.14656	T	0.56	16.7605	2.1373	0.03765	0.2211:0.3831:0.2248:0.171	.	87	Q3SY46	KR133_HUMAN	L	87;77	ENSP00000375109:M87L	ENSP00000375109:M87L	M	-	1	0	KRTAP13-3	30719843	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.113000	0.03296	-1.798000	0.01250	-2.339000	0.00246	ATG		0.567	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			G	31797972	T	G	31797972	3	3	3	1	0	0	0	0	1	0	0	0	8524	1464	51	5	263	5	KRTAP13-3	21	31797972	Missense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09		31797972	16331923	60	156											
ATP5O	539	genome.wustl.edu	37	21	35284601	35284601	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr21:35284601T>C	ENST00000290299.2	-	3	406	c.190A>G	c.(190-192)Aga>Gga	p.R64G	AP000304.12_ENST00000429238.1_Missense_Mutation_p.E12G|ATP5O_ENST00000496044.1_5'Flank	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	64					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.R64G(1)		large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						ACTGCTACTCTCAACAACTCC	0.388																																																1	Substitution - Missense(1)	ovary(1)	21											112	100	104					21																	35284601		2203	4300	6503	34206471	SO:0001583	missense	539			AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	850	protein-coding gene	gene with protein product	"oligomycin sensitivity conferring protein"	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.190A>G	21.37:g.35284601T>C	ENSP00000290299:p.Arg64Gly		34206471	B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP	ENST00000290299.2	37	CCDS13634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.330313|4.330313	0.81690|0.81690	.|.	.|.	ENSG00000249209|ENSG00000241837	ENST00000429238|ENST00000290299	.|T	.|0.42513	.|0.97	5.62|5.62	-2.08|-2.08	0.07254|0.07254	.|.	.|0.093348	.|0.64402	.|D	.|0.000004	T|T	0.51652|0.51652	0.1687|0.1687	L|L	0.49513|0.49513	1.565|1.565	0.30081|0.30081	N|N	0.809142|0.809142	.|D	.|0.54964	.|0.969	.|P	.|0.57283	.|0.817	T|T	0.60047|0.60047	-0.7339|-0.7339	5|9	.|.	.|.	.|.	-6.7294|-6.7294	20.578|20.578	0.99371|0.99371	0.0:0.0:0.7488:0.2512|0.0:0.0:0.7488:0.2512	.|.	.|64	.|P48047	.|ATPO_HUMAN	G|G	12|64	.|ENSP00000290299:R64G	.|.	E|R	-|-	2|1	0|2	AP000304.12|ATP5O	34206471|34206471	0.332000|0.332000	0.24722|0.24722	0.001000|0.001000	0.08648|0.08648	0.899000|0.899000	0.52679|0.52679	0.573000|0.573000	0.23699|0.23699	-0.497000|-0.497000	0.06641|0.06641	0.455000|0.455000	0.32223|0.32223	GAG|AGA		0.388	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139907.1	NM_001697		C	35284601	T	C	35284601	3	2	3	1	0	0	0	0	1	0	0	0	1162	1559	54	4	471	4	ATP5O	21	35284601	Missense_Mutation	SNP	T	TCGA-04-1336-01A-01W-0488-09	3486629	35284601	12845294	61	157											
ERG	2078	genome.wustl.edu	37	21	39755800	39755800	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chr21:39755800G>A	ENST00000417133.2	-	12	1171	c.986C>T	c.(985-987)tCg>tTg	p.S329L	ERG_ENST00000398919.2_Missense_Mutation_p.S329L|ERG_ENST00000398907.1_Missense_Mutation_p.S299L|ERG_ENST00000398910.1_Missense_Mutation_p.S306L|ERG_ENST00000288319.7_Missense_Mutation_p.S322L|ERG_ENST00000398905.1_Missense_Mutation_p.S298L|ERG_ENST00000453032.2_Missense_Mutation_p.S230L|ERG_ENST00000442448.1_Missense_Mutation_p.S305L|ERG_ENST00000398911.1_Missense_Mutation_p.S305L|ERG_ENST00000398897.1_Missense_Mutation_p.S206L	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.S305L(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GGAGCTGTCCGACAGGAGCTC	0.602			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	1	Substitution - Missense(1)	ovary(1)	21											53	53	53					21																	39755800		2203	4300	6503	38677670	SO:0001583	missense	2078				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.986C>T	21.37:g.39755800G>A	ENSP00000414150:p.Ser329Leu		38677670	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707771	0.89018	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	N	0.13098	0.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.987	D;D;D;P	0.97110	0.992;1.0;0.992;0.81	T	0.44574	-0.9319	10	0.87932	D	0	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	329;298;305;322	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	L	298;299;322;206;305;329;306;305;230;329	ENSP00000381877:S298L;ENSP00000381879:S299L;ENSP00000288319:S322L;ENSP00000381871:S206L;ENSP00000381882:S305L;ENSP00000414150:S329L;ENSP00000381881:S306L;ENSP00000394694:S305L;ENSP00000396268:S230L;ENSP00000381891:S329L	ENSP00000288319:S322L	S	-	2	0	ERG	38677670	1.000000	0.71417	0.940000	0.37924	0.939000	0.58152	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	TCG		0.602	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		A	39755800	G	A	39755800	3	1	3	1	0	0	0	0	1	0	0	0	5222	1059	37	1	478	1	ERG	21	39755800	Missense_Mutation	SNP	G	TCGA-04-1336-01A-01W-0488-09	4471199	39755800	8374095	62	158											
GPR112	139378	genome.wustl.edu	37	X	135427511	135427511	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1336-01A-01W-0488-09	TCGA-04-1336-11A-01W-0489-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	586101df-93c9-4d0b-ba0e-58df7a2f9598	0d429d7f-2655-4757-b6f1-42d3daa55bbb	g.chrX:135427511C>T	ENST00000394143.1	+	6	1937	c.1646C>T	c.(1645-1647)tCg>tTg	p.S549L	GPR112_ENST00000370652.1_Missense_Mutation_p.S549L|GPR112_ENST00000394141.1_Missense_Mutation_p.S344L|GPR112_ENST00000412101.1_Missense_Mutation_p.S344L|GPR112_ENST00000287534.4_Missense_Mutation_p.S486L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	549					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S549L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTTCCATGTCGAAAGAGACC	0.428																																																1	Substitution - Missense(1)	ovary(1)	X											77	71	73					X																	135427511		2202	4299	6501	135255177	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1646C>T	X.37:g.135427511C>T	ENSP00000377699:p.Ser549Leu		135255177	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	10.99	1.506855	0.26949	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31769	1.52;1.52;1.48;1.62;1.48	3.42	2.54	0.30619	.	.	.	.	.	T	0.13841	0.0335	N	0.14661	0.345	0.09310	N	1	B;B;P	0.37663	0.128;0.049;0.604	B;B;B	0.21546	0.011;0.006;0.035	T	0.12066	-1.0562	9	0.87932	D	0	.	6.5405	0.22377	0.0:0.8491:0.0:0.1509	.	486;344;549	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	549;549;344;486;344	ENSP00000377699:S549L;ENSP00000359686:S549L;ENSP00000416526:S344L;ENSP00000287534:S486L;ENSP00000377697:S344L	ENSP00000287534:S486L	S	+	2	0	GPR112	135255177	0.004000	0.15560	0.001000	0.08648	0.020000	0.10135	1.864000	0.39469	0.569000	0.29329	0.411000	0.27672	TCG		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			T	135427511	C	T	135427511	3	4	3	1	0	0	0	0	1	0	0	0	6629	893	31	1	1656	1	GPR112	23	135427511	Missense_Mutation	SNP	C	TCGA-04-1336-01A-01W-0488-09		135427511	19843049	63	159											
E2F2	1870	hgsc.bcm.edu	37	1	23836447	23836447	+	Silent	SNP	C	C	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr1:23836447C>A	ENST00000361729.2	-	7	1665	c.1239G>T	c.(1237-1239)ctG>ctT	p.L413L		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	413	Retinoblastoma protein binding. {ECO:0000255}.|Transactivation. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L413L(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCAAGCCCCACAGGTAGTCGT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	1											57	43	48					1																	23836447		2203	4300	6503	23709034	SO:0001819	synonymous_variant	1870			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.1239G>T	1.37:g.23836447C>A			23709034	B2R9W1|Q7Z6H1	Silent	SNP	ENST00000361729.2	37	CCDS236.1																																																																																				0.622	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091		A	23836447	C	A	23836447	2	1	4	1	0	0	0	0	0	0	0	1	4867	465	17	3		3	E2F2	1	23836447	Silent	SNP	C	TCGA-04-1337-01A-01W-0484-10		23836447	225414174	1	160											
LEPRE1	64175	hgsc.bcm.edu	37	1	43213048	43213048	+	Frame_Shift_Del	DEL	T	T	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr1:43213048delT	ENST00000296388.5	-	14	2001	c.1950delA	c.(1948-1950)ggafs	p.G650fs	LEPRE1_ENST00000236040.4_Frame_Shift_Del_p.G650fs|LEPRE1_ENST00000397054.3_Frame_Shift_Del_p.G650fs|LEPRE1_ENST00000462474.1_5'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	650	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.F651fs*11(1)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGAAGAGAATCCCACGGCTC	0.587											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	ovary(1)	1											54	55	55					1																	43213048		2200	4290	6490	42985635	SO:0001589	frameshift_variant	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1950delA	1.37:g.43213048delT	ENSP00000296388:p.Gly650fs	914	42985635	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Frame_Shift_Del	DEL	ENST00000296388.5	37	CCDS472.2																																																																																				0.587	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		-	43213048	T	-	43213048	7	5	4	1	0	1	0	1	0	0	0	0	8729	1422	50	0	287	0	LEPRE1	1	43213048	Frame_Shift_Del	DEL	T	TCGA-04-1337-01A-01W-0484-10	19376601	43213048	206037573	2	161											
GNPAT	8443	hgsc.bcm.edu	37	1	231401797	231401797	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr1:231401797A>C	ENST00000366647.4	+	7	979	c.810A>C	c.(808-810)agA>agC	p.R270S	GNPAT_ENST00000366646.3_Missense_Mutation_p.R209S	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	270					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.R270S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTTTAAAAGAGAAGTTTTTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	1											93	92	92					1																	231401797		2202	4300	6502	229468420	SO:0001583	missense	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.810A>C	1.37:g.231401797A>C	ENSP00000355607:p.Arg270Ser		229468420	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	A	8.739	0.918610	0.17982	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.85484	-1.99;0.01;0.01;0.0	5.6	4.48	0.54585	Phospholipid/glycerol acyltransferase (2);	0.062231	0.64402	D	0.000002	T	0.60392	0.2265	N	0.01257	-0.925	0.40282	D	0.978409	B;B	0.26318	0.146;0.012	B;B	0.27715	0.082;0.05	T	0.56257	-0.8009	10	0.44086	T	0.13	.	3.9138	0.09214	0.5963:0.0:0.1538:0.2499	.	209;270	B4DNM9;O15228	.;GNPAT_HUMAN	S	209;270;209;260	ENSP00000402811:R209S;ENSP00000355607:R270S;ENSP00000355606:R209S;ENSP00000411640:R260S	ENSP00000355606:R209S	R	+	3	2	GNPAT	229468420	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	0.431000	0.21444	0.952000	0.37798	-0.621000	0.04028	AGA		0.368	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			C	231401797	A	C	231401797	3	2	4	1	0	0	0	0	1	0	0	0	6541	301	11	5	836	5	GNPAT	1	231401797	Missense_Mutation	SNP	A	TCGA-04-1337-01A-01W-0484-10	188188749	231401797	17848824	3	162											
SMARCAL1	50485	hgsc.bcm.edu	37	2	217311806	217311806	+	Silent	SNP	G	G	A	rs372995559		TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr2:217311806G>A	ENST00000357276.4	+	11	2106	c.1776G>A	c.(1774-1776)acG>acA	p.T592T	SMARCAL1_ENST00000358207.5_Silent_p.T592T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	592	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.T592T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGCTCTACACGCAGATCATCG	0.527									Schimke Immuno-Osseous Dysplasia																																							1	Substitution - coding silent(1)	ovary(1)	2						G	,	0,4406		0,0,2203	150	138	142		1776,1776	-11	0.4	2		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SMARCAL1	NM_001127207.1,NM_014140.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	592/955,592/955	217311806	1,13005	2203	4300	6503	217020051	SO:0001819	synonymous_variant	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1776G>A	2.37:g.217311806G>A			217020051	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	CCDS2403.1																																																																																				0.527	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			A	217311806	G	A	217311806	2	1	4	1	0	0	0	0	0	0	0	1	14776	1074	38	1		1	SMARCAL1	2	217311806	Silent	SNP	G	TCGA-04-1337-01A-01W-0484-10		217311806	25887567	4	163											
CELSR3	1951	hgsc.bcm.edu	37	3	48684346	48684346	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr3:48684346C>T	ENST00000164024.4	-	21	7425	c.7145G>A	c.(7144-7146)aGc>aAc	p.S2382N	CELSR3_ENST00000544264.1_Missense_Mutation_p.S2387N|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2382					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S2382N(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCTATGCTGCTGCTTGTGGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	3											41	38	39					3																	48684346		2181	4285	6466	48659350	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7145G>A	3.37:g.48684346C>T	ENSP00000164024:p.Ser2382Asn		48659350	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	c	5.495	0.276319	0.10403	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70631	-0.5;-0.5	5.36	4.47	0.54385	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.58047	0.2095	L	0.36672	1.1	0.09310	N	1	B;B	0.25904	0.137;0.001	B;B	0.24394	0.053;0.008	T	0.42413	-0.9453	9	0.16420	T	0.52	.	10.3429	0.43889	0.0:0.7903:0.1366:0.073	.	2382;2452	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	N	2382;2387	ENSP00000164024:S2382N;ENSP00000445694:S2387N	ENSP00000164024:S2382N	S	-	2	0	CELSR3	48659350	0.998000	0.40836	0.393000	0.26258	0.253000	0.25986	2.971000	0.49248	1.247000	0.43917	0.556000	0.70494	AGC		0.572	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48684346	C	T	48684346	3	4	4	1	0	0	0	0	1	0	0	0	3223	797	28	2	2853	2	CELSR3	3	48684346	Missense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10		48684346	149338084	5	164											
BOC	91653	hgsc.bcm.edu	37	3	112998812	112998812	+	Missense_Mutation	SNP	C	C	A	rs368545065		TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr3:112998812C>A	ENST00000495514.1	+	13	2866	c.2162C>A	c.(2161-2163)aCg>aAg	p.T721K	BOC_ENST00000273395.4_Missense_Mutation_p.T722K|BOC_ENST00000355385.3_Missense_Mutation_p.T721K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	721	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.T721K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ATCACCTTCACGGATGCGGTC	0.637																																																1	Substitution - Missense(1)	ovary(1)	3											56	51	53					3																	112998812		2203	4300	6503	114481502	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2162C>A	3.37:g.112998812C>A	ENSP00000418663:p.Thr721Lys		114481502	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474558	0.84640	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.53423	0.62;0.62;0.62	5.53	5.53	0.82687	Fibronectin, type III (4);	0.114427	0.64402	D	0.000010	T	0.69663	0.3136	M	0.70275	2.135	0.49915	D	0.999839	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.96;0.993;0.996	T	0.69510	-0.5126	10	0.49607	T	0.09	.	19.4493	0.94860	0.0:1.0:0.0:0.0	.	538;722;721	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	K	721;722;721	ENSP00000418663:T721K;ENSP00000273395:T722K;ENSP00000347546:T721K	ENSP00000273395:T722K	T	+	2	0	BOC	114481502	1.000000	0.71417	0.955000	0.39395	0.800000	0.45204	4.465000	0.60141	2.593000	0.87608	0.563000	0.77884	ACG		0.637	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		A	112998812	C	A	112998812	3	1	4	1	0	0	0	0	1	0	0	0	1481	536	19	3	2204	3	BOC	3	112998812	Missense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	64314466	112998812	85023618	6	165											
GABRB1	2560	hgsc.bcm.edu	37	4	47427958	47427958	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr4:47427958G>C	ENST00000295454.3	+	9	1640	c.1348G>C	c.(1348-1350)Gac>Cac	p.D450H	GABRB1_ENST00000538619.1_Missense_Mutation_p.D380H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	450					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.D450H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAATTCCATAGACAAGTGGTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	4											109	106	107					4																	47427958		2203	4300	6503	47122715	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1348G>C	4.37:g.47427958G>C	ENSP00000295454:p.Asp450His		47122715	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619535	0.87460	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.98437	-4.93;-4.93	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99072	1.0834	10	0.87932	D	0	-24.5045	19.2334	0.93849	0.0:0.0:1.0:0.0	.	380;450	F5GXV5;P18505	.;GBRB1_HUMAN	H	450;380	ENSP00000295454:D450H;ENSP00000440330:D380H	ENSP00000295454:D450H	D	+	1	0	GABRB1	47122715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.519000	0.98025	2.781000	0.95711	0.650000	0.86243	GAC		0.507	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			C	47427958	G	C	47427958	3	2	4	1	0	0	0	0	1	0	0	0	6166	942	33	3	1382	3	GABRB1	4	47427958	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10		47427958	143726318	7	166											
NFXL1	152518	hgsc.bcm.edu	37	4	47853937	47853937	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr4:47853937C>T	ENST00000507489.1	-	21	2620	c.2444G>A	c.(2443-2445)cGt>cAt	p.R815H	NFXL1_ENST00000381538.3_Missense_Mutation_p.R815H	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	815						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R815H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTGATTTTCACGTACTTTGTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											181	162	168					4																	47853937		2203	4300	6503	47548694	SO:0001583	missense	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2444G>A	4.37:g.47853937C>T	ENSP00000422037:p.Arg815His		47548694	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502008	0.85176	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.29917	1.55;1.55	5.82	5.82	0.92795	.	0.086607	0.49916	D	0.000125	T	0.40670	0.1126	M	0.67397	2.05	0.80722	D	1	D	0.61080	0.989	P	0.47981	0.563	T	0.30880	-0.9963	10	0.59425	D	0.04	-33.223	14.2902	0.66273	0.0:0.9273:0.0:0.0727	.	815	Q6ZNB6	NFXL1_HUMAN	H	815	ENSP00000370949:R815H;ENSP00000422037:R815H	ENSP00000370949:R815H	R	-	2	0	NFXL1	47548694	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.576000	0.36504	2.760000	0.94817	0.655000	0.94253	CGT		0.358	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		T	47853937	C	T	47853937	3	4	4	1	0	0	0	0	1	0	0	0	10388	536	19	1	303	1	NFXL1	4	47853937	Missense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	425979	47853937	143300339	8	167											
USO1	8615	hgsc.bcm.edu	37	4	76721617	76721617	+	Nonsense_Mutation	SNP	C	C	G			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr4:76721617C>G	ENST00000538159.1	+	16	1704	c.1704C>G	c.(1702-1704)taC>taG	p.Y568*	USO1_ENST00000514213.2_Nonsense_Mutation_p.Y544*			O60763	USO1_HUMAN	USO1 vesicle transport factor	559	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.Y487*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAGAGCTACATGAAGTAAG	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	4											93	80	84					4																	76721617		1844	4096	5940	76940641	SO:0001587	stop_gained	8615			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1704C>G	4.37:g.76721617C>G	ENSP00000440586:p.Tyr568*		76940641	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Nonsense_Mutation	SNP	ENST00000538159.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698682|3.698682	0.68501|0.68501	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|.	.|.	.|.	5.83|5.83	1.55|1.55	0.23275|0.23275	.|.	.|0.181231	.|0.50627	.|D	.|0.000117	T|.	0.21468|.	0.0517|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38308|.	-0.9667|.	3|.	.|0.02654	.|T	.|1	.|.	9.2364|9.2364	0.37468|0.37468	0.0:0.5543:0.0:0.4457|0.0:0.5543:0.0:0.4457	.|.	.|.	.|.	.|.	R|X	235|394;568;544;487	.|.	.|ENSP00000264904:Y487X	T|Y	+|+	2|3	0|2	USO1|USO1	76940641|76940641	0.959000|0.959000	0.32827|0.32827	0.721000|0.721000	0.30653|0.30653	0.641000|0.641000	0.38312|0.38312	0.082000|0.082000	0.14847|0.14847	0.361000|0.361000	0.24292|0.24292	0.563000|0.563000	0.77884|0.77884	ACA|TAC		0.363	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		G	76721617	C	G	76721617	4	3	4	1	0	0	0	0	0	1	0	0	17039	489	17	3	1576	3	USO1	4	76721617	Nonsense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	28867680	76721617	114432659	9	168	1	2									
USO1	8615	hgsc.bcm.edu	37	4	76721619	76721619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr4:76721619delT	ENST00000538159.1	+	16	1706	c.1706delT	c.(1705-1707)atgfs	p.M569fs	USO1_ENST00000514213.2_Frame_Shift_Del_p.M545fs			O60763	USO1_HUMAN	USO1 vesicle transport factor	560	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.M488fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGAGCTACATGAAGTAAGTA	0.363																																																1	Deletion - Frameshift(1)	ovary(1)	4											93	80	84					4																	76721619		1845	4096	5941	76940643	SO:0001589	frameshift_variant	8615			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1706delT	4.37:g.76721619delT	ENSP00000440586:p.Met569fs		76940643	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Frame_Shift_Del	DEL	ENST00000538159.1	37																																																																																					0.363	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		-	76721619	T	-	76721619	7	5	4	1	0	1	0	1	0	0	0	0	17039	1464	51	0	1578	0	USO1	4	76721619	Frame_Shift_Del	DEL	T	TCGA-04-1337-01A-01W-0484-10	2	76721619	114432657	10	169	1	2									
SEC24B	10427	hgsc.bcm.edu	37	4	110415906	110415906	+	Missense_Mutation	SNP	A	A	G	rs370271043		TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr4:110415906A>G	ENST00000265175.5	+	6	1437	c.1382A>G	c.(1381-1383)tAt>tGt	p.Y461C	SEC24B_ENST00000504968.2_Missense_Mutation_p.Y492C|SEC24B_ENST00000399100.2_Missense_Mutation_p.Y426C	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	461					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.Y426C(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCTTTTGGCTATGGCTATCCA	0.512																																																1	Substitution - Missense(1)	ovary(1)	4						A	CYS/TYR,CYS/TYR	0,4252		0,0,2126	111	115	114		1277,1382	4.3	1	4		114	2,8558		0,2,4278	no	missense,missense	SEC24B	NM_001042734.1,NM_006323.2	194,194	0,2,6404	GG,GA,AA		0.0234,0.0,0.0156	benign,benign	426/1234,461/1269	110415906	2,12810	2126	4280	6406	110635355	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1382A>G	4.37:g.110415906A>G	ENSP00000265175:p.Tyr461Cys		110635355	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181377	0.38511	0.0	2.34E-4	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.24151	1.87;1.87;1.87	5.47	4.28	0.50868	.	.	.	.	.	T	0.34077	0.0885	L	0.61218	1.895	0.50813	D	0.999896	B;P;B;B;B	0.50819	0.003;0.939;0.006;0.001;0.001	B;P;B;B;B	0.50490	0.005;0.642;0.008;0.018;0.008	T	0.04360	-1.0957	9	0.40728	T	0.16	4.5137	9.9254	0.41489	0.9214:0.0:0.0786:0.0	.	376;60;492;426;461	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	C	492;426;461	ENSP00000428564:Y492C;ENSP00000382051:Y426C;ENSP00000265175:Y461C	ENSP00000265175:Y461C	Y	+	2	0	SEC24B	110635355	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.723000	0.54955	0.890000	0.36211	0.533000	0.62120	TAT		0.512	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			G	110415906	A	G	110415906	3	3	4	1	0	0	0	0	1	0	0	0	13998	449	16	4	1404	4	SEC24B	4	110415906	Missense_Mutation	SNP	A	TCGA-04-1337-01A-01W-0484-10	33694287	110415906	80738370	11	170											
FBXW7	55294	hgsc.bcm.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	114	Substitution - Missense(113)|Unknown(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)	4											253	218	230					4																	153249384		2203	4300	6503	153468834	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>A	4.37:g.153249384C>T	ENSP00000281708:p.Arg465His		153468834	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178201	0.94846	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.62469	-0.6848	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	465;347;385;289	ENSP00000281708:R465H;ENSP00000296555:R347H;ENSP00000263981:R385H;ENSP00000377528:R289H	ENSP00000263981:R385H	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			T	153249384	C	T	153249384	3	4	4	1	0	0	0	0	1	0	0	0	5769	536	19	1	745	1	FBXW7	4	153249384	Missense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	42833478	153249384	37904892	12	171											
LPCAT1	79888	hgsc.bcm.edu	37	5	1489918	1489919	+	Frame_Shift_Ins	INS	-	-	CC	rs369672145		TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr5:1489918_1489919insCC	ENST00000283415.3	-	4	680_681	c.548_549insGG	c.(547-549)cgcfs	p.R183fs		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	183					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.R184fs*5(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CTGTTTTCCTGCGAGAATCCTG	0.535																																																1	Insertion - Frameshift(1)	ovary(1)	5																																								1542919	SO:0001589	frameshift_variant	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.548_549insGG	5.37:g.1489918_1489919insCC	ENSP00000283415:p.Arg183fs		1542918	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Frame_Shift_Ins	INS	ENST00000283415.3	37	CCDS3864.1																																																																																				0.535	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		CC	1489919	-	CC	1489918	7	5	4	1	0	1	1	0	0	0	0	0	8910	1306	46	0	1099	0	LPCAT1	5	1489918	Frame_Shift_Ins	INS	-	TCGA-04-1337-01A-01W-0484-10		1489918	179425342	13	172											
PCSK1	5122	hgsc.bcm.edu	37	5	95728746	95728746	+	Silent	SNP	G	G	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr5:95728746G>A	ENST00000311106.3	-	14	2458	c.2221C>T	c.(2221-2223)Ctg>Ttg	p.L741L	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.L694L|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	741					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.L741L(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCTTGAAGCAGCCGGTCGTCT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	5											164	171	169					5																	95728746		2203	4300	6503	95754502	SO:0001819	synonymous_variant	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2221C>T	5.37:g.95728746G>A			95754502	B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	CCDS4081.1																																																																																				0.398	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		A	95728746	G	A	95728746	2	1	4	1	0	0	0	0	0	0	0	1	11600	962	34	2		2	PCSK1	5	95728746	Silent	SNP	G	TCGA-04-1337-01A-01W-0484-10	94238828	95728746	85186514	14	173											
TSPYL1	7259	hgsc.bcm.edu	37	6	116600321	116600321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr6:116600321C>A	ENST00000368608.3	-	1	745	c.673G>T	c.(673-675)Gag>Tag	p.E225*	DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	225					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E225*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CGGAGAGCCTCATGCAAAGGC	0.592																																																1	Substitution - Nonsense(1)	ovary(1)	6											56	52	54					6																	116600321		2203	4300	6503	116707014	SO:0001587	stop_gained	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.673G>T	6.37:g.116600321C>A	ENSP00000357597:p.Glu225*		116707014	O75885|Q5TFE6	Nonsense_Mutation	SNP	ENST00000368608.3	37	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252194	0.95336	.	.	ENSG00000189241	ENST00000368608	.	.	.	3.95	-6.44	0.01920	.	4.611710	0.00616	N	0.000431	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	1.7063	5.9728	0.19361	0.2458:0.1516:0.0:0.6026	.	.	.	.	X	225	.	ENSP00000357597:E225X	E	-	1	0	TSPYL1	116707014	0.000000	0.05858	0.000000	0.03702	0.867000	0.49689	-0.699000	0.05087	-1.648000	0.01510	0.462000	0.41574	GAG		0.592	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			A	116600321	C	A	116600321	4	1	4	1	0	0	0	0	0	1	0	0	16659	835	29	3	644	3	TSPYL1	6	116600321	Nonsense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10		116600321	54514746	15	174											
KATNA1	11104	hgsc.bcm.edu	37	6	149919436	149919436	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr6:149919436G>C	ENST00000335647.5	-	7	983	c.939C>G	c.(937-939)atC>atG	p.I313M	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Missense_Mutation_p.I237M|KATNA1_ENST00000367411.2_Missense_Mutation_p.I313M					katanin p60 (ATPase containing) subunit A 1									p.I313M(1)|p.I313I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GGCGACTACAGATGGAGTCTA	0.413																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	6											103	102	103					6																	149919436		2203	4300	6503	149961129	SO:0001583	missense	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"ATPases / AAA-type"	6216	protein-coding gene	gene with protein product		606696	"katanin p60 (ATPase-containing) subunit A 1"			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.939C>G	6.37:g.149919436G>C	ENSP00000335106:p.Ile313Met		149961129		Missense_Mutation	SNP	ENST00000335647.5	37	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256245	0.59321	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411	D;D;D	0.94046	-3.34;-3.34;-3.34	5.68	-2.52	0.06346	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.043122	0.85682	D	0.000000	D	0.90321	0.6972	M	0.70903	2.155	0.49483	D	0.999793	P;P;P	0.50272	0.933;0.562;0.882	P;B;P	0.53102	0.718;0.439;0.718	D	0.87512	0.2440	9	.	.	.	.	8.4271	0.32735	0.4087:0.0:0.4779:0.1133	.	313;237;313	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	M	313;237;313	ENSP00000335106:I313M;ENSP00000335180:I237M;ENSP00000356381:I313M	.	I	-	3	3	KATNA1	149961129	0.975000	0.34042	0.984000	0.44739	0.984000	0.73092	0.220000	0.17660	-0.319000	0.08652	-0.312000	0.09012	ATC		0.413	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		C	149919436	G	C	149919436	3	2	4	1	0	0	0	0	1	0	0	0	7984	932	33	3	552	3	KATNA1	6	149919436	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10	33319115	149919436	21195631	16	175											
PTPN12	5782	hgsc.bcm.edu	37	7	77166940	77166940	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr7:77166940A>C	ENST00000248594.6	+	1	349	c.77A>C	c.(76-78)gAc>gCc	p.D26A	PTPN12_ENST00000435495.2_5'Flank|PTPN12_ENST00000415482.2_5'Flank	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	26					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.D26A(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AATGGGGAGGACAACTTCGCC	0.657																																																1	Substitution - Missense(1)	ovary(1)	7											47	41	43					7																	77166940		2201	4300	6501	77004876	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.77A>C	7.37:g.77166940A>C	ENSP00000248594:p.Asp26Ala		77004876	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	a	11.05	1.524014	0.27299	.	.	ENSG00000127947	ENST00000248594	T	0.30714	1.52	2.69	2.69	0.31865	.	0.457359	0.18754	N	0.132083	T	0.23886	0.0578	L	0.48642	1.525	0.80722	D	1	B	0.17667	0.023	B	0.15052	0.012	T	0.04767	-1.0928	10	0.18710	T	0.47	.	9.8064	0.40795	1.0:0.0:0.0:0.0	.	26	Q05209	PTN12_HUMAN	A	26	ENSP00000248594:D26A	ENSP00000248594:D26A	D	+	2	0	PTPN12	77004876	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.812000	0.62613	1.479000	0.48272	0.375000	0.23000	GAC		0.657	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			C	77166940	A	C	77166940	3	2	4	1	0	0	0	0	1	0	0	0	12784	275	10	5	79	5	PTPN12	7	77166940	Missense_Mutation	SNP	A	TCGA-04-1337-01A-01W-0484-10		77166940	81971723	17	176											
HTR5A	3361	hgsc.bcm.edu	37	7	154863324	154863324	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr7:154863324G>A	ENST00000287907.2	+	1	1291	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	HTR5A-AS1_ENST00000543018.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	239					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.V239I(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GACCAATAGCGTCTCACCCAT	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											69	67	68					7																	154863324		2203	4300	6503	154494257	SO:0001583	missense	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.715G>A	7.37:g.154863324G>A	ENSP00000287907:p.Val239Ile		154494257	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474657	0.12521	.	.	ENSG00000157219	ENST00000287907	T	0.72051	-0.62	4.76	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.322217	0.30547	N	0.009399	T	0.41396	0.1157	N	0.04297	-0.235	0.39167	D	0.962523	B	0.20459	0.045	B	0.16722	0.016	T	0.22452	-1.0216	10	0.14656	T	0.56	.	5.4171	0.16380	0.3403:0.0:0.6597:0.0	.	239	P47898	5HT5A_HUMAN	I	239	ENSP00000287907:V239I	ENSP00000287907:V239I	V	+	1	0	HTR5A	154494257	1.000000	0.71417	0.966000	0.40874	0.282000	0.26991	3.433000	0.52834	1.240000	0.43803	0.650000	0.86243	GTC		0.547	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		A	154863324	G	A	154863324	3	1	4	1	0	0	0	0	1	0	0	0	7450	1145	40	1	717	1	HTR5A	7	154863324	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10	77696384	154863324	4275339	18	177											
DLC1	10395	hgsc.bcm.edu	37	8	12947764	12947765	+	Frame_Shift_Ins	INS	-	-	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr8:12947764_12947765insT	ENST00000276297.4	-	15	4479_4480	c.4070_4071insA	c.(4069-4071)aagfs	p.K1357fs	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Frame_Shift_Ins_p.K846fs|DLC1_ENST00000512044.2_Frame_Shift_Ins_p.K954fs|DLC1_ENST00000358919.2_Frame_Shift_Ins_p.K920fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1357	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.K1358fs*16(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCCTTACCTTCTTATAGGACAG	0.495																																																1	Insertion - Frameshift(1)	ovary(1)	8																																								12992136	SO:0001589	frameshift_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4071dupA	8.37:g.12947766_12947766dupT	ENSP00000276297:p.Lys1357fs		12992135	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Frame_Shift_Ins	INS	ENST00000276297.4	37	CCDS5989.1																																																																																				0.495	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12947765	-	T	12947764	7	5	4	1	0	1	1	0	0	0	0	0	4550	912	32	0	531	0	DLC1	8	12947764	Frame_Shift_Ins	INS	-	TCGA-04-1337-01A-01W-0484-10		12947764	133416258	19	178											
HINT2	84681	hgsc.bcm.edu	37	9	35813088	35813088	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr9:35813088A>T	ENST00000259667.5	-	5	496	c.455T>A	c.(454-456)gTa>gAa	p.V152E	SPAG8_ENST00000340291.2_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_5'Flank|TMEM8B_ENST00000377996.1_5'Flank|HINT2_ENST00000474908.1_5'UTR|SPAG8_ENST00000396638.2_5'Flank|SPAG8_ENST00000479751.1_5'Flank	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	152	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				apoptotic process (GO:0006915)|steroid biosynthetic process (GO:0006694)	mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)	p.V152E(1)		NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCCCAAGTACATGAATGTG	0.517																																					GBM(185;1694 2122 5473 25431 37228)											1	Substitution - Missense(1)	ovary(1)	9											142	149	146					9																	35813088		2203	4300	6503	35803088	SO:0001583	missense	84681			AY033094	CCDS6594.1	9p11.2	2005-12-20			ENSG00000137133	ENSG00000137133			18344	protein-coding gene	gene with protein product		609997					Standard	NM_032593		Approved		uc003zyh.3	Q9BX68	OTTHUMG00000019886	ENST00000259667.5:c.455T>A	9.37:g.35813088A>T	ENSP00000259667:p.Val152Glu		35803088	Q5TCW3	Missense_Mutation	SNP	ENST00000259667.5	37	CCDS6594.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315990	0.81469	.	.	ENSG00000137133	ENST00000259667	D	0.93763	-3.28	5.15	5.15	0.70609	Histidine triad, conserved site (1);Histidine triad motif (1);Histidine triad-like motif (1);	0.078147	0.51477	D	0.000093	D	0.97579	0.9207	H	0.96547	3.84	0.54753	D	0.999989	D	0.71674	0.998	D	0.77004	0.989	D	0.98417	1.0575	10	0.87932	D	0	-36.6166	12.4674	0.55766	1.0:0.0:0.0:0.0	.	152	Q9BX68	HINT2_HUMAN	E	152	ENSP00000259667:V152E	ENSP00000259667:V152E	V	-	2	0	HINT2	35803088	0.997000	0.39634	0.999000	0.59377	0.987000	0.75469	7.312000	0.78968	2.164000	0.68074	0.533000	0.62120	GTA		0.517	HINT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052390.1	NM_032593		T	35813088	A	T	35813088	3	4	4	1	0	0	0	0	1	0	0	0	7112	391	14	5	40	5	HINT2	9	35813088	Missense_Mutation	SNP	A	TCGA-04-1337-01A-01W-0484-10		35813088	105400343	20	179											
ANGPTL2	23452	hgsc.bcm.edu	37	9	129870339	129870339	+	Silent	SNP	G	G	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr9:129870339G>A	ENST00000373425.3	-	2	1289	c.672C>T	c.(670-672)gtC>gtT	p.V224V	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	224					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.V224V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GTGGTTGGTAGACCCGGGGCG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	9											54	48	50					9																	129870339		2203	4300	6503	128910160	SO:0001819	synonymous_variant	23452			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.672C>T	9.37:g.129870339G>A			128910160	Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	CCDS6868.1																																																																																				0.632	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		A	129870339	G	A	129870339	2	1	4	1	0	0	0	0	0	0	0	1	614	929	33	2		2	ANGPTL2	9	129870339	Silent	SNP	G	TCGA-04-1337-01A-01W-0484-10	94057251	129870339	11343092	21	180											
ADAMTS13	11093	hgsc.bcm.edu	37	9	136310027	136310027	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr9:136310027G>C	ENST00000371929.3	+	20	2908	c.2464G>C	c.(2464-2466)Gca>Cca	p.A822P	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A791P|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A822P|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.S343T|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	822	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A822P(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGCTGGTGGAGCAGGCCTGGC	0.627																																																1	Substitution - Missense(1)	ovary(1)	9											68	51	56					9																	136310027		2203	4300	6503	135299848	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2464G>C	9.37:g.136310027G>C	ENSP00000360997:p.Ala822Pro		135299848	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.480|5.480	0.273556|0.273556	0.10403|0.10403	.|.	.|.	ENSG00000160323|ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589|ENST00000536611	T;T;T|T	0.69306|0.62639	-0.35;-0.39;-0.37|0.01	4.37|4.37	-2.03|-2.03	0.07365|0.07365	.|.	.|.	.|.	.|.	.|.	T|T	0.45935|0.45935	0.1367|0.1367	L|L	0.35487|0.35487	1.065|1.065	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.002;0.001;0.001|.	B;B;B|.	0.09377|.	0.003;0.004;0.004|.	T|T	0.40156|0.40156	-0.9578|-0.9578	9|7	0.20519|0.38643	T|T	0.43|0.18	.|.	2.6047|2.6047	0.04875|0.04875	0.2693:0.4098:0.21:0.1109|0.2693:0.4098:0.21:0.1109	.|.	822;791;822|.	Q76LX8;Q76LX8-3;Q76LX8-2|.	ATS13_HUMAN;.;.|.	P|T	822;822;791|343	ENSP00000360997:A822P;ENSP00000347927:A822P;ENSP00000348997:A791P|ENSP00000444504:S343T	ENSP00000347927:A822P|ENSP00000444504:S343T	A|S	+|+	1|2	0|0	ADAMTS13|ADAMTS13	135299848|135299848	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.048000|0.048000	0.14542|0.14542	-0.814000|-0.814000	0.04486|0.04486	-0.295000|-0.295000	0.08960|0.08960	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		C	136310027	G	C	136310027	3	2	4	1	0	0	0	0	1	0	0	0	258	971	34	3	2542	3	ADAMTS13	9	136310027	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10	6439688	136310027	4903404	22	181											
INSC	387755	hgsc.bcm.edu	37	11	15247329	15247330	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:15247329_15247330delCT	ENST00000379554.3	+	9	1312_1313	c.1266_1267delCT	c.(1264-1269)gcctgcfs	p.C423fs	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Frame_Shift_Del_p.C334fs|INSC_ENST00000424273.1_Frame_Shift_Del_p.C334fs|INSC_ENST00000528567.1_Frame_Shift_Del_p.C376fs|INSC_ENST00000530161.1_Frame_Shift_Del_p.C376fs|INSC_ENST00000379556.3_Frame_Shift_Del_p.C376fs	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	423					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.C423fs*2(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCCTGGAAGCCTGCAGTGACAA	0.564																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								15203906	SO:0001589	frameshift_variant	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1266_1267delCT	11.37:g.15247329_15247330delCT	ENSP00000368872:p.Cys423fs		15203905	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Frame_Shift_Del	DEL	ENST00000379554.3	37	CCDS41621.1																																																																																				0.564	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		-	15247330	CT	-	15247329	7	5	4	1	0	1	0	1	0	0	0	0	7764	668	24	0	1300	0	INSC	11	15247329	Frame_Shift_Del	DEL	CT	TCGA-04-1337-01A-01W-0484-10		15247329	119759187	23	182											
KCNA4	3739	hgsc.bcm.edu	37	11	30033628	30033628	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:30033628T>C	ENST00000328224.6	-	2	1831	c.598A>G	c.(598-600)Act>Gct	p.T200A	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	200					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.T200A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCAACAAAGTCTCTGGAAAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											63	61	62					11																	30033628		1907	4123	6030	29990204	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.598A>G	11.37:g.30033628T>C	ENSP00000328511:p.Thr200Ala		29990204		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950237	0.73787	.	.	ENSG00000182255	ENST00000328224	T	0.81247	-1.47	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.92593	0.7647	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94784	0.7956	10	0.87932	D	0	.	14.382	0.66916	0.0:0.0:0.0:1.0	.	200	P22459	KCNA4_HUMAN	A	200	ENSP00000328511:T200A	ENSP00000328511:T200A	T	-	1	0	KCNA4	29990204	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.008000	0.88588	1.808000	0.52836	0.459000	0.35465	ACT		0.473	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		C	30033628	T	C	30033628	3	2	4	1	0	0	0	0	1	0	0	0	8005	1667	58	4	1367	4	KCNA4	11	30033628	Missense_Mutation	SNP	T	TCGA-04-1337-01A-01W-0484-10	14786299	30033628	104972888	24	183											
NR1H3	10062	hgsc.bcm.edu	37	11	47281408	47281408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:47281408delG	ENST00000467728.1	+	2	1348	c.110delG	c.(109-111)agcfs	p.S37fs	NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000407404.1_Frame_Shift_Del_p.S37fs|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Frame_Shift_Del_p.S37fs|NR1H3_ENST00000405853.3_Frame_Shift_Del_p.S37fs			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	37					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S37fs*77(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGAGGCAGCAGCTGCATCCTC	0.652											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	ovary(1)	11											28	28	28					11																	47281408		2201	4298	6499	47237984	SO:0001589	frameshift_variant	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.110delG	11.37:g.47281408delG	ENSP00000420656:p.Ser37fs	945	47237984	A8K3J9|D3DQR1|Q8IW13|Q96H87	Frame_Shift_Del	DEL	ENST00000467728.1	37	CCDS7929.1																																																																																				0.652	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			-	47281408	G	-	47281408	7	5	4	1	0	1	0	1	0	0	0	0	10618	971	34	0	116	0	NR1H3	11	47281408	Frame_Shift_Del	DEL	G	TCGA-04-1337-01A-01W-0484-10	17247780	47281408	87725108	25	184											
EHD1	10938	hgsc.bcm.edu	37	11	64641976	64641976	+	Frame_Shift_Del	DEL	T	T	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:64641976delT	ENST00000320631.3	-	2	673	c.419delA	c.(418-420)cagfs	p.Q140fs	EHD1_ENST00000359393.2_Frame_Shift_Del_p.Q140fs	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	140	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)	p.Q140fs*64(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GTTGGGCAGCTGGGCACACAT	0.562																																																1	Deletion - Frameshift(1)	ovary(1)	11											74	56	62					11																	64641976		2201	4297	6498	64398552	SO:0001589	frameshift_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.419delA	11.37:g.64641976delT	ENSP00000320516:p.Gln140fs		64398552	O14611|Q2M3Q4|Q9UNR3	Frame_Shift_Del	DEL	ENST00000320631.3	37	CCDS8084.1																																																																																				0.562	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		-	64641976	T	-	64641976	7	5	4	1	0	1	0	1	0	0	0	0	4977	1580	55	0	1201	0	EHD1	11	64641976	Frame_Shift_Del	DEL	T	TCGA-04-1337-01A-01W-0484-10	17360568	64641976	70364540	26	185											
MUS81	80198	hgsc.bcm.edu	37	11	65632780	65632780	+	Nonsense_Mutation	SNP	C	C	G			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:65632780C>G	ENST00000308110.4	+	14	1840	c.1491C>G	c.(1489-1491)taC>taG	p.Y497*	MUS81_ENST00000533035.1_Nonsense_Mutation_p.Y422*|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	497					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y497*(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TGGATCGATACAGCACCCCTG	0.632								Homologous recombination																																								1	Substitution - Nonsense(1)	ovary(1)	11											76	76	76					11																	65632780		2201	4296	6497	65389356	SO:0001587	stop_gained	80198				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1491C>G	11.37:g.65632780C>G	ENSP00000307853:p.Tyr497*		65389356	Q9H7D9	Nonsense_Mutation	SNP	ENST00000308110.4	37	CCDS8115.1	.	.	.	.	.	.	.	.	.	.	C	40	7.929773	0.98565	.	.	ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742	.	.	.	5.75	4.84	0.62591	.	0.058325	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3281	12.3547	0.55167	0.0:0.9183:0.0:0.0817	.	.	.	.	X	422;497;497;30	.	ENSP00000307853:Y497X	Y	+	3	2	MUS81	65389356	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	3.682000	0.54656	1.437000	0.47472	0.511000	0.50034	TAC		0.632	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		G	65632780	C	G	65632780	4	3	4	1	0	0	0	0	0	1	0	0	9988	489	17	3	1545	3	MUS81	11	65632780	Nonsense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	990804	65632780	69373736	27	186											
ODZ4	26011	hgsc.bcm.edu	37	11	78372634	78372634	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:78372634delC	ENST00000278550.7	-	33	7873	c.7411delG	c.(7411-7413)gttfs	p.V2471fs		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2471					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.V2471fs*15(1)									CAGCTGTTAACATCTGGATGG	0.522																																																1	Deletion - Frameshift(1)	ovary(1)	11											89	88	88					11																	78372634		2043	4204	6247	78050282	SO:0001589	frameshift_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7411delG	11.37:g.78372634delC	ENSP00000278550:p.Val2471fs		78050282	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Frame_Shift_Del	DEL	ENST00000278550.7	37	CCDS44688.1																																																																																				0.522	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			-	78372634	C	-	78372634	7	5	4	1	0	1	0	1	0	0	0	0	10837	478	17	0	906	0	ODZ4	11	78372634	Frame_Shift_Del	DEL	C	TCGA-04-1337-01A-01W-0484-10	12739854	78372634	56633882	28	187											
ARHGAP20	57569	hgsc.bcm.edu	37	11	110450220	110450221	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:110450220_110450221delAG	ENST00000260283.4	-	16	3733_3734	c.3449_3450delCT	c.(3448-3450)tctfs	p.S1151fs	ARHGAP20_ENST00000529591.1_Frame_Shift_Del_p.S694fs|ARHGAP20_ENST00000528829.1_Frame_Shift_Del_p.S1115fs|ARHGAP20_ENST00000527598.1_Frame_Shift_Del_p.S1115fs|ARHGAP20_ENST00000533353.1_Frame_Shift_Del_p.S1125fs|ARHGAP20_ENST00000524756.1_Frame_Shift_Del_p.S1128fs|ARHGAP20_ENST00000357139.3_Frame_Shift_Del_p.S1125fs	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1151					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S1150fs*33(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGAACCAGAAGAGCTCTGACT	0.54																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								109955431	SO:0001589	frameshift_variant	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3449_3450delCT	11.37:g.110450222_110450223delAG	ENSP00000260283:p.Ser1151fs		109955430	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Frame_Shift_Del	DEL	ENST00000260283.4	37	CCDS31673.1																																																																																				0.54	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		-	110450221	AG	-	110450220	7	5	4	1	0	1	0	1	0	0	0	0	870	59	3	0	129	0	ARHGAP20	11	110450220	Frame_Shift_Del	DEL	AG	TCGA-04-1337-01A-01W-0484-10	32077586	110450220	24556296	29	188											
PDZD3	79849	hgsc.bcm.edu	37	11	119059206	119059207	+	In_Frame_Ins	INS	-	-	TCATAA			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:119059206_119059207insTCATAA	ENST00000531114.1	+	6	1752_1753	c.1203_1204insTCATAA	c.(1204-1206)tcc>TCATAAtcc	p.402_402S>S*S	PDZD3_ENST00000355547.5_In_Frame_Ins_p.336_336S>S*S|PDZD3_ENST00000392817.2_In_Frame_Ins_p.402_402S>S*S|PDZD3_ENST00000322712.4_In_Frame_Ins_p.322_322S>S*S|PDZD3_ENST00000525131.1_In_Frame_Ins_p.323_323S>S*S			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	402	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.G321_S322insS*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		AGGGGCAGGGCTCCTGTGTCTC	0.683																																																1	Insertion - In frame(1)	ovary(1)	11																																								118564417	SO:0001652	inframe_insertion	79849			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	Exception_encountered	11.37:g.119059206_119059207insTCATAA	Exception_encountered		118564416	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	In_Frame_Ins	INS	ENST00000531114.1	37																																																																																					0.683	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		TCATAA	119059207	-	TCATAA	119059206	7	5	4	1	0	1	1	0	0	0	0	0	11702	784	28	0	1035	0	PDZD3	11	119059206	In_Frame_Ins	INS	-	TCGA-04-1337-01A-01W-0484-10	8608986	119059206	15947310	30	189											
VSIG2	23584	hgsc.bcm.edu	37	11	124617502	124617502	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:124617502C>G	ENST00000326621.5	-	7	1013	c.913G>C	c.(913-915)Ggg>Cgg	p.G305R	RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	305						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.G305R(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCCAGGAACCCCTTGCTAGAA	0.567																																																1	Substitution - Missense(1)	ovary(1)	11											103	90	94					11																	124617502		2201	4299	6500	124122712	SO:0001583	missense	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.913G>C	11.37:g.124617502C>G	ENSP00000318684:p.Gly305Arg		124122712	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947592	0.18356	.	.	ENSG00000019102	ENST00000326621	T	0.72615	-0.67	5.35	4.43	0.53597	.	0.205187	0.34932	N	0.003564	T	0.65523	0.2699	M	0.63428	1.95	0.80722	D	1	B	0.22080	0.064	B	0.20767	0.031	T	0.61073	-0.7136	10	0.23891	T	0.37	.	11.966	0.53035	0.0:0.8262:0.1738:0.0	.	305	Q96IQ7	VSIG2_HUMAN	R	305	ENSP00000318684:G305R	ENSP00000318684:G305R	G	-	1	0	VSIG2	124122712	0.049000	0.20398	0.495000	0.27527	0.019000	0.09904	0.454000	0.21827	1.472000	0.48140	0.650000	0.86243	GGG		0.567	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		G	124617502	C	G	124617502	3	3	4	1	0	0	0	0	1	0	0	0	17224	623	22	3	74	3	VSIG2	11	124617502	Missense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	5558296	124617502	10389014	31	190											
SNX19	399979	hgsc.bcm.edu	37	11	130750635	130750635	+	Frame_Shift_Del	DEL	A	A	-	rs372192550		TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr11:130750635delA	ENST00000265909.4	-	9	3209	c.2640delT	c.(2638-2640)cttfs	p.L880fs	SNX19_ENST00000534726.1_Frame_Shift_Del_p.L120fs|SNX19_ENST00000426933.2_Frame_Shift_Del_p.L48fs|SNX19_ENST00000539184.1_Frame_Shift_Del_p.L323fs|SNX19_ENST00000530356.1_Frame_Shift_Del_p.L260fs|SNX19_ENST00000528555.1_Frame_Shift_Del_p.L260fs|SNX19_ENST00000545537.1_Frame_Shift_Del_p.L120fs|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	880					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.Q881fs*17(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGGACTCCTGAAGAAGCAGGA	0.522																																																1	Deletion - Frameshift(1)	ovary(1)	11											76	82	80					11																	130750635		2201	4297	6498	130255845	SO:0001589	frameshift_variant	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2640delT	11.37:g.130750635delA	ENSP00000265909:p.Leu880fs		130255845	E9PKB9|Q8IV55	Frame_Shift_Del	DEL	ENST00000265909.4	37	CCDS31721.1																																																																																				0.522	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		-	130750635	A	-	130750635	7	5	4	1	0	1	0	1	0	0	0	0	14893	233	9	0	350	0	SNX19	11	130750635	Frame_Shift_Del	DEL	A	TCGA-04-1337-01A-01W-0484-10	6133133	130750635	4255881	32	191											
TNFRSF1A	7132	hgsc.bcm.edu	37	12	6442573	6442573	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr12:6442573G>C	ENST00000162749.2	-	4	731	c.432C>G	c.(430-432)ttC>ttG	p.F144L	TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.F144L|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.F101L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	144					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.F144L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGCTGCAATTGAAGCACTGGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	12											63	62	62					12																	6442573		2203	4300	6503	6312834	SO:0001583	missense	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.432C>G	12.37:g.6442573G>C	ENSP00000162749:p.Phe144Leu		6312834	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230933	0.79688	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.06	-5.46	0.02608	TNFR/CD27/30/40/95 cysteine-rich region (4);	5.930690	0.00166	N	0.000006	T	0.64940	0.2644	N	0.00347	-1.61	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.62492	-0.6843	10	0.25106	T	0.35	3.578	9.4428	0.38679	0.2813:0.3071:0.4116:0.0	.	144;101;144	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	L	144;101;144;144;144	ENSP00000162749:F144L;ENSP00000438343:F101L;ENSP00000442059:F144L;ENSP00000380389:F144L;ENSP00000413224:F144L	ENSP00000162749:F144L	F	-	3	2	TNFRSF1A	6312834	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.712000	0.05013	-0.527000	0.06374	0.561000	0.74099	TTC		0.592	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		C	6442573	G	C	6442573	3	2	4	1	0	0	0	0	1	0	0	0	16293	1281	45	3	963	3	TNFRSF1A	12	6442573	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10		6442573	127409322	33	192											
PPHLN1	51535	hgsc.bcm.edu	37	12	42768739	42768739	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr12:42768739G>C	ENST00000395568.2	+	5	458	c.374G>C	c.(373-375)aGg>aCg	p.R125T	PPHLN1_ENST00000256678.8_Missense_Mutation_p.R24T|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R125T|PPHLN1_ENST00000317560.9_Missense_Mutation_p.R77T|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R132T|PPHLN1_ENST00000432191.2_Missense_Mutation_p.R70T|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R77T|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R70T|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R143T|PPHLN1_ENST00000449194.2_Missense_Mutation_p.R125T	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	125					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R125T(1)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CCTTATAAAAGGGACAATACT	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											79	80	80					12																	42768739		2203	4300	6503	41055006	SO:0001583	missense	51535			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.374G>C	12.37:g.42768739G>C	ENSP00000378935:p.Arg125Thr		41055006	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915699	0.52546	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000256678;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191;ENST00000546750;ENST00000547847	.	.	.	6.17	5.29	0.74685	.	0.108809	0.64402	D	0.000011	T	0.78285	0.4259	M	0.71036	2.16	0.52501	D	0.999955	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.996;0.996;0.996;0.995;0.996;0.997;0.999;0.999;0.999;1.0;0.999	T	0.80961	-0.1148	9	0.72032	D	0.01	-6.6921	15.336	0.74255	0.0662:0.0:0.9338:0.0	.	77;24;70;70;77;70;125;125;125;77;132;77;143	F8WF16;F8W6A0;B7Z695;B7Z8L1;B7Z615;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.;.	T	143;132;70;125;125;24;125;77;77;70;132;125	.	ENSP00000256678:R24T	R	+	2	0	PPHLN1	41055006	1.000000	0.71417	0.980000	0.43619	0.086000	0.17979	3.733000	0.55029	1.630000	0.50440	0.655000	0.94253	AGG		0.403	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		C	42768739	G	C	42768739	3	2	4	1	0	0	0	0	1	0	0	0	12315	1000	35	3	413	3	PPHLN1	12	42768739	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10	36326166	42768739	91083156	34	193											
RNFT2	84900	hgsc.bcm.edu	37	12	117287151	117287151	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr12:117287151G>C	ENST00000257575.4	+	11	1466	c.1233G>C	c.(1231-1233)tgG>tgC	p.W411C	RNFT2_ENST00000551251.1_Intron|RNFT2_ENST00000392549.2_Missense_Mutation_p.W411C|RNFT2_ENST00000407967.3_Intron|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	411						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TCTGCCTGTGGCTGGACCGTG	0.662																																																0			12											19	21	20					12																	117287151		2110	4128	6238	115771534	SO:0001583	missense	84900			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1233G>C	12.37:g.117287151G>C	ENSP00000257575:p.Trp411Cys		115771534	E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	37	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638651	0.87760	.	.	ENSG00000135119	ENST00000257575;ENST00000392549	T;T	0.75154	-0.91;-0.91	5.19	5.19	0.71726	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.87617	0.6222	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89459	0.3735	9	0.87932	D	0	-12.0764	18.2978	0.90153	0.0:0.0:1.0:0.0	.	411	Q96EX2	RNFT2_HUMAN	C	411	ENSP00000257575:W411C;ENSP00000376332:W411C	ENSP00000257575:W411C	W	+	3	0	RNFT2	115771534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.363000	0.97131	2.404000	0.81709	0.549000	0.68633	TGG		0.662	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117287151	G	C	117287151	3	2	4	1	0	0	0	0	1	0	0	0	13505	1212	42	3	1271	3	RNFT2	12	117287151	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10	74518412	117287151	16564744	35	194											
SLC12A6	9990	hgsc.bcm.edu	37	15	34542845	34542849	+	Frame_Shift_Del	DEL	GGTCA	GGTCA	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	GGTCA	GGTCA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr15:34542845_34542849delGGTCA	ENST00000354181.3	-	12	2066_2070	c.1574_1578delTGACC	c.(1573-1578)ctgaccfs	p.LT525fs	SLC12A6_ENST00000558589.1_Frame_Shift_Del_p.LT516fs|SLC12A6_ENST00000560164.1_Frame_Shift_Del_p.LT337fs|SLC12A6_ENST00000458406.2_Frame_Shift_Del_p.LT466fs|SLC12A6_ENST00000558667.1_Frame_Shift_Del_p.LT525fs|SLC12A6_ENST00000560611.1_Frame_Shift_Del_p.LT525fs|SLC12A6_ENST00000451844.2_Frame_Shift_Del_p.LT337fs|SLC12A6_ENST00000290209.5_Frame_Shift_Del_p.LT474fs|SLC12A6_ENST00000397707.2_Frame_Shift_Del_p.LT510fs|SLC12A6_ENST00000397702.2_Frame_Shift_Del_p.LT466fs			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	525					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.L474L(1)|p.L516L(1)|p.L474fs*17(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CAAAGGAGGTGGTCAGGATGGCAAG	0.41																																																3	Substitution - coding silent(2)|Deletion - Frameshift(1)	lung(2)|ovary(1)	15																																								32330141	SO:0001589	frameshift_variant	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1574_1578delTGACC	15.37:g.34542845_34542849delGGTCA	ENSP00000346112:p.Leu525fs		32330137	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Frame_Shift_Del	DEL	ENST00000354181.3	37	CCDS58352.1																																																																																				0.41	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		-	34542849	GGTCA	-	34542845	7	5	4	1	0	1	0	1	0	0	0	0	14390	1335	47	0	1934	0	SLC12A6	15	34542845	Frame_Shift_Del	DEL	GGTCA	TCGA-04-1337-01A-01W-0484-10		34542845	67988547	36	195											
ABCA3	21	hgsc.bcm.edu	37	16	2336768	2336768	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr16:2336768G>A	ENST00000301732.5	-	22	3905	c.3205C>T	c.(3205-3207)Cac>Tac	p.H1069Y	ABCA3_ENST00000382381.3_Missense_Mutation_p.H1011Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1069			H -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.H1069Y(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ATGGAGGCGTGAGGCCCGCAC	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											123	122	122					16																	2336768		2198	4300	6498	2276769	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3205C>T	16.37:g.2336768G>A	ENSP00000301732:p.His1069Tyr		2276769	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	8.014	0.758176	0.15846	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86956	-2.19	4.5	2.29	0.28610	.	1.159090	0.06019	N	0.651037	T	0.75064	0.3799	N	0.08118	0	0.21697	N	0.999589	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.64457	-0.6403	10	0.59425	D	0.04	.	6.9728	0.24658	0.0:0.3028:0.4535:0.2437	.	1073;1069	Q4LE27;Q99758	.;ABCA3_HUMAN	Y	1069;1073	ENSP00000301732:H1069Y	ENSP00000301732:H1069Y	H	-	1	0	ABCA3	2276769	0.661000	0.27430	0.012000	0.15200	0.132000	0.20833	2.928000	0.48908	1.203000	0.43233	0.555000	0.69702	CAC		0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		A	2336768	G	A	2336768	3	1	4	1	0	0	0	0	1	0	0	0	33	1290	45	2	1957	2	ABCA3	16	2336768	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10		2336768	88017985	37	196											
CACNG3	10368	hgsc.bcm.edu	37	16	24358110	24358110	+	Nonsense_Mutation	SNP	C	C	A	rs368528326		TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr16:24358110C>A	ENST00000005284.3	+	2	1469	c.267C>A	c.(265-267)taC>taA	p.Y89*		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	89					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.Y89*(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATGCTGACTACGAACAGGACA	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	16											88	80	83					16																	24358110		2197	4300	6497	24265611	SO:0001587	stop_gained	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.267C>A	16.37:g.24358110C>A	ENSP00000005284:p.Tyr89*		24265611		Nonsense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	C	46	12.147800	0.99640	.	.	ENSG00000006116	ENST00000005284	.	.	.	5.61	-8.54	0.00912	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4901	19.5557	0.95347	0.0:0.1875:0.0:0.8125	.	.	.	.	X	89	.	ENSP00000005284:Y89X	Y	+	3	2	CACNG3	24265611	0.000000	0.05858	0.533000	0.28001	0.920000	0.55202	-2.072000	0.01377	-1.727000	0.01368	-0.126000	0.14955	TAC		0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		A	24358110	C	A	24358110	4	1	4	1	0	0	0	0	0	1	0	0	2558	547	19	3	273	3	CACNG3	16	24358110	Nonsense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	22021342	24358110	65996643	38	197											
CDH1	999	hgsc.bcm.edu	37	16	68845700	68845700	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	A	A	G	A	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr16:68845700A>G	ENST00000261769.5	+	7	1137	c.946A>G	c.(946-948)Atg>Gtg	p.M316V	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.M316V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	316	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.M316V(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGACAAAAATATGTTCACCAT	0.547			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	2	Substitution - Missense(1)|Unknown(1)	ovary(1)|breast(1)	16											112	96	101					16																	68845700		2198	4300	6498	67403201	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.946A>G	16.37:g.68845700A>G	ENSP00000261769:p.Met316Val		67403201	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.280944	0.23392	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.52057	0.68;0.68	5.19	5.19	0.71726	Cadherin (4);Cadherin-like (1);	0.094167	0.46758	D	0.000262	T	0.56645	0.1999	L	0.39085	1.19	0.45250	D	0.998251	D;P	0.61080	0.989;0.903	P;P	0.62435	0.902;0.527	T	0.60052	-0.7338	10	0.66056	D	0.02	.	15.0395	0.71777	1.0:0.0:0.0:0.0	.	316;316	Q9UII8;P12830	.;CADH1_HUMAN	V	316	ENSP00000261769:M316V;ENSP00000414946:M316V	ENSP00000261769:M316V	M	+	1	0	CDH1	67403201	1.000000	0.71417	0.911000	0.35937	0.033000	0.12548	4.751000	0.62169	2.090000	0.63153	0.459000	0.35465	ATG		0.547	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		G	68845700	A	G	68845700	3	3	4	1	0	0	0	0	1	0	0	0	3095	449	16	4	972	4	CDH1	16	68845700	Missense_Mutation	SNP	A	TCGA-04-1337-01A-01W-0484-10	44487590	68845700	21509053	39	198											
TP53	7157	hgsc.bcm.edu	37	17	7578527	7578527	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr17:7578527A>G	ENST00000269305.4	-	5	592	c.403T>C	c.(403-405)Tgc>Cgc	p.C135R	TP53_ENST00000420246.2_Missense_Mutation_p.C135R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C135R|TP53_ENST00000359597.4_Missense_Mutation_p.C135R|TP53_ENST00000455263.2_Missense_Mutation_p.C135R|TP53_ENST00000445888.2_Missense_Mutation_p.C135R	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	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135R(11)|p.0?(8)|p.C135G(6)|p.C135fs*35(4)|p.C135S(4)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.C135fs*36(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F134fs*14(1)|p.C42R(1)|p.M133fs*13(1)|p.C3R(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)	GCCAGTTGGCAAAACATCTTG	0.567		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"	49	Substitution - Missense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(5)|biliary_tract(5)|breast(5)|large_intestine(4)|oesophagus(4)|lung(4)|bone(4)|upper_aerodigestive_tract(2)|urinary_tract(2)|pancreas(2)|stomach(1)|skin(1)|penis(1)|ovary(1)	17											49	50	49					17																	7578527		2203	4300	6503	7519252	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.403T>C	17.37:g.7578527A>G	ENSP00000269305:p.Cys135Arg		7519252	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	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340491	0.81911	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	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	0.99743	0.9898	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97181	0.9851	10	0.87932	D	0	-26.815	13.8301	0.63375	1.0:0.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135R;ENSP00000352610:C135R;ENSP00000269305:C135R;ENSP00000398846:C135R;ENSP00000391127:C135R;ENSP00000391478:C135R;ENSP00000425104:C3R;ENSP00000423862:C42R;ENSP00000424104:C135R	ENSP00000269305:C135R	C	-	1	0	TP53	7519252	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578527	A	G	7578527	3	3	4	1	0	0	0	0	1	0	0	0	16381	130	5	4	895	4	TP53	17	7578527	Missense_Mutation	SNP	A	TCGA-04-1337-01A-01W-0484-10		7578527	73616683	40	199											
MYH1	4619	hgsc.bcm.edu	37	17	10399470	10399470	+	Splice_Site	SNP	C	C	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr17:10399470C>A	ENST00000226207.5	-	35	5060	c.4966G>T	c.(4966-4968)Gat>Tat	p.D1656Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1656					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1656Y(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCTGGGTATCCTGTGGAACA	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											82	73	76					17																	10399470		2203	4300	6503	10340195	SO:0001630	splice_region_variant	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4966-1G>T	17.37:g.10399470C>A			10340195	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611933	0.66558	.	.	ENSG00000109061	ENST00000226207	T	0.80994	-1.44	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.45126	U	0.000391	D	0.93213	0.7838	H	0.96460	3.825	0.80722	D	1	D	0.59357	0.985	D	0.67103	0.949	D	0.94736	0.7914	10	0.87932	D	0	.	19.8241	0.96610	0.0:1.0:0.0:0.0	.	1656	P12882	MYH1_HUMAN	Y	1656	ENSP00000226207:D1656Y	ENSP00000226207:D1656Y	D	-	1	0	MYH1	10340195	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	7.538000	0.82048	2.758000	0.94735	0.655000	0.94253	GAT		0.542	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Missense_Mutation	A	10399470	C	A	10399470	5	1	4	1	0	0	0	0	0	0	1	0	10029	869	30	3	877	3	MYH1	17	10399470	Splice_Site	SNP	C	TCGA-04-1337-01A-01W-0484-10	2820943	10399470	70795740	41	200											
NAGLU	4669	hgsc.bcm.edu	37	17	40690745	40690745	+	Frame_Shift_Del	DEL	G	G	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr17:40690745delG	ENST00000225927.2	+	4	837	c.736delG	c.(736-738)gcgfs	p.A246fs	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	246			A -> P (in MPS3B; produces 12.7% residual enzyme activity). {ECO:0000269|PubMed:16151907}.		carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)	p.A246fs*54(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GCCTGCATTCGCGGGGCATGT	0.572																																																1	Deletion - Frameshift(1)	ovary(1)	17	GRCh37	CM053339	NAGLU	M							61	48	52					17																	40690745		2203	4300	6503	37944271	SO:0001589	frameshift_variant	4669				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.736delG	17.37:g.40690745delG	ENSP00000225927:p.Ala246fs		37944271		Frame_Shift_Del	DEL	ENST00000225927.2	37	CCDS11427.1																																																																																				0.572	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		-	40690745	G	-	40690745	7	5	4	1	0	1	0	1	0	0	0	0	10143	1087	38	0	750	0	NAGLU	17	40690745	Frame_Shift_Del	DEL	G	TCGA-04-1337-01A-01W-0484-10	30291275	40690745	40504465	42	201											
C17orf53	78995	hgsc.bcm.edu	37	17	42225949	42225949	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr17:42225949delC	ENST00000319977.4	+	3	1015	c.778delC	c.(778-780)cccfs	p.P260fs	C17orf53_ENST00000245382.6_Frame_Shift_Del_p.P260fs|C17orf53_ENST00000585683.1_Frame_Shift_Del_p.P260fs	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	260								p.T261fs*48(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTAACAGTTCCCACTCAGCA	0.557																																																1	Deletion - Frameshift(1)	ovary(1)	17											109	96	100					17																	42225949		2203	4300	6503	39581475	SO:0001589	frameshift_variant	78995			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.778delC	17.37:g.42225949delC	ENSP00000313500:p.Pro260fs		39581475	A8K7A9|Q9BWM9|Q9HAI1	Frame_Shift_Del	DEL	ENST00000319977.4	37	CCDS11477.1																																																																																				0.557	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		-	42225949	C	-	42225949	7	5	4	1	0	1	0	1	0	0	0	0	1862	855	30	0	788	0	C17orf53	17	42225949	Frame_Shift_Del	DEL	C	TCGA-04-1337-01A-01W-0484-10	1535204	42225949	38969261	43	202											
TBX4	9496	hgsc.bcm.edu	37	17	59560377	59560377	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr17:59560377C>T	ENST00000240335.1	+	8	1183	c.1138C>T	c.(1138-1140)Ccc>Tcc	p.P380S	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.P381S	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	380					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P380S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AATGCTGAGCCCCTCCTACTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											68	61	63					17																	59560377		2203	4300	6503	56915159	SO:0001583	missense	9496			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1138C>T	17.37:g.59560377C>T	ENSP00000240335:p.Pro380Ser		56915159	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866544	0.72065	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.39056	1.1;1.1	5.51	5.51	0.81932	.	0.844484	0.11134	N	0.596045	T	0.57066	0.2028	L	0.33485	1.01	0.53005	D	0.999963	D;P	0.71674	0.998;0.808	D;B	0.77557	0.99;0.173	T	0.48163	-0.9059	9	.	.	.	.	18.4117	0.90554	0.0:1.0:0.0:0.0	.	381;380	A5PKU7;P57082	.;TBX4_HUMAN	S	381;380	ENSP00000377435:P381S;ENSP00000240335:P380S	.	P	+	1	0	TBX4	56915159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.438000	0.80431	2.590000	0.87494	0.655000	0.94253	CCC		0.607	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		T	59560377	C	T	59560377	3	4	4	1	0	0	0	0	1	0	0	0	15660	623	22	2	1168	2	TBX4	17	59560377	Missense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	17334428	59560377	21634833	44	203											
NUP85	79902	hgsc.bcm.edu	37	17	73231685	73231685	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr17:73231685G>C	ENST00000245544.4	+	19	1953	c.1882G>C	c.(1882-1884)Gag>Cag	p.E628Q	NUP85_ENST00000579324.1_Missense_Mutation_p.E516Q|NUP85_ENST00000579298.1_Missense_Mutation_p.E583Q|NUP85_ENST00000541827.1_Missense_Mutation_p.E582Q|NUP85_ENST00000540768.1_Missense_Mutation_p.E231Q|NUP85_ENST00000447371.2_3'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	628					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.E628Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGATGACATAGAGACCACCAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	17											80	75	77					17																	73231685		2203	4300	6503	70743280	SO:0001583	missense	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1882G>C	17.37:g.73231685G>C	ENSP00000245544:p.Glu628Gln		70743280	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679183	0.88542	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.91	5.91	0.95273	.	0.046847	0.85682	D	0.000000	T	0.45418	0.1341	N	0.08118	0	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.52109	0.69;0.69	T	0.35992	-0.9766	9	0.15499	T	0.54	-23.556	20.2985	0.98592	0.0:0.0:1.0:0.0	.	582;628	B4DMQ3;Q9BW27	.;NUP85_HUMAN	Q	628;582;231	.	ENSP00000245544:E628Q	E	+	1	0	NUP85	70743280	1.000000	0.71417	0.991000	0.47740	0.613000	0.37349	7.026000	0.76455	2.793000	0.96121	0.655000	0.94253	GAG		0.502	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		C	73231685	G	C	73231685	3	2	4	1	0	0	0	0	1	0	0	0	10770	943	33	3	1956	3	NUP85	17	73231685	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10	13671308	73231685	7963525	45	204											
TRIM65	201292	hgsc.bcm.edu	37	17	73887034	73887034	+	Frame_Shift_Del	DEL	G	G	-			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr17:73887034delG	ENST00000269383.3	-	6	1445	c.1380delC	c.(1378-1380)ggcfs	p.G460fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	460	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.C461fs*37(1)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTGAGGCAGCCTGAGGCCA	0.667																																																1	Deletion - Frameshift(1)	ovary(1)	17											26	29	28					17																	73887034		2162	4223	6385	71398629	SO:0001589	frameshift_variant	201292			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1380delC	17.37:g.73887034delG	ENSP00000269383:p.Gly460fs		71398629	Q4G0F0|Q6DKJ6|Q9BRP6	Frame_Shift_Del	DEL	ENST00000269383.3	37	CCDS11732.1																																																																																				0.667	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		-	73887034	G	-	73887034	7	5	4	1	0	1	0	1	0	0	0	0	16539	958	34	0	177	0	TRIM65	17	73887034	Frame_Shift_Del	DEL	G	TCGA-04-1337-01A-01W-0484-10	655349	73887034	7308176	46	205											
MEP1B	4225	hgsc.bcm.edu	37	18	29795144	29795144	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr18:29795144G>C	ENST00000269202.6	+	12	1726	c.1679G>C	c.(1678-1680)aGt>aCt	p.S560T	MEP1B_ENST00000581447.1_Missense_Mutation_p.S560T	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	560	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S560T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATGGAACCAGTGCCTTTATA	0.398																																																1	Substitution - Missense(1)	ovary(1)	18											90	90	90					18																	29795144		1835	4088	5923	28049142	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1679G>C	18.37:g.29795144G>C	ENSP00000269202:p.Ser560Thr		28049142	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622319	0.28889	.	.	ENSG00000141434	ENST00000269202	T	0.43294	0.95	5.97	1.84	0.25277	TRAF-type (1);TRAF-like (1);MATH (3);	0.652472	0.17858	N	0.159611	T	0.38612	0.1047	L	0.43152	1.355	0.09310	N	1	B	0.20368	0.044	B	0.34093	0.175	T	0.39482	-0.9612	10	0.38643	T	0.18	-10.0308	11.8641	0.52482	0.0947:0.5493:0.356:0.0	.	560	Q16820	MEP1B_HUMAN	T	560	ENSP00000269202:S560T	ENSP00000269202:S560T	S	+	2	0	MEP1B	28049142	0.000000	0.05858	0.524000	0.27887	0.952000	0.60782	0.590000	0.23954	0.371000	0.24564	0.655000	0.94253	AGT		0.398	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		C	29795144	G	C	29795144	3	2	4	1	0	0	0	0	1	0	0	0	9476	1029	36	3	1725	3	MEP1B	18	29795144	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10		29795144	48282104	47	206											
ATP8B3	148229	hgsc.bcm.edu	37	19	1783212	1783212	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr19:1783212G>A	ENST00000310127.6	-	29	3956	c.3718C>T	c.(3718-3720)Cat>Tat	p.H1240Y	ATP8B3_ENST00000539485.1_Missense_Mutation_p.H1250Y|ATP8B3_ENST00000525591.1_Missense_Mutation_p.H1203Y	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1240					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.H1250Y(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTGTACATGAGGCAAGGGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											39	40	40					19																	1783212		1982	4131	6113	1734212	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3718C>T	19.37:g.1783212G>A	ENSP00000311336:p.His1240Tyr		1734212	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	0.086	-1.174652	0.01646	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.38887	1.11;1.11;1.11	4.43	-1.19	0.09585	.	1.761390	0.03119	N	0.163422	T	0.30792	0.0776	L	0.32530	0.975	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.32052	-0.9921	10	0.02654	T	1	.	12.6059	0.56523	0.1397:0.0:0.8603:0.0	.	1240;1203	O60423;Q7Z485	AT8B3_HUMAN;.	Y	1240;1250;1203	ENSP00000311336:H1240Y;ENSP00000443574:H1250Y;ENSP00000437115:H1203Y	ENSP00000311336:H1240Y	H	-	1	0	ATP8B3	1734212	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.073000	0.11468	-0.088000	0.12506	0.549000	0.68633	CAT		0.587	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		A	1783212	G	A	1783212	3	1	4	1	0	0	0	0	1	0	0	0	1196	1290	45	2	188	2	ATP8B3	19	1783212	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10		1783212	57345771	48	207											
DOCK6	57572	hgsc.bcm.edu	37	19	11311647	11311647	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr19:11311647G>A	ENST00000294618.7	-	45	5781	c.5770C>T	c.(5770-5772)Cca>Tca	p.P1924S	DOCK6_ENST00000586702.1_5'UTR|CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.P1263S	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1924	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1926S(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCATCTGGTGGGTCCTGCTCG	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											66	67	67					19																	11311647		2102	4233	6335	11172647	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5770C>T	19.37:g.11311647G>A	ENSP00000294618:p.Pro1924Ser		11172647	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720335	0.89205	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.17370	2.28;2.28	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	M	0.65320	2	0.80722	D	1	D;P;D	0.71674	0.995;0.786;0.998	P;P;D	0.70016	0.882;0.665;0.967	T	0.26326	-1.0106	10	0.62326	D	0.03	-30.3233	15.8801	0.79197	0.0:0.0:1.0:0.0	.	1263;1924;1263	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	S	1924;1263	ENSP00000294618:P1924S;ENSP00000321556:P1263S	ENSP00000294618:P1924S	P	-	1	0	DOCK6	11172647	1.000000	0.71417	0.991000	0.47740	0.880000	0.50808	9.738000	0.98835	2.026000	0.59711	0.650000	0.86243	CCA		0.637	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11311647	G	A	11311647	3	1	4	1	0	0	0	0	1	0	0	0	4691	1232	43	2	389	2	DOCK6	19	11311647	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10	9528435	11311647	47817336	49	208											
ARHGAP35	2909	hgsc.bcm.edu	37	19	47423159	47423159	+	Silent	SNP	C	C	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr19:47423159C>A	ENST00000404338.3	+	1	1227	c.1227C>A	c.(1225-1227)acC>acA	p.T409T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	409	FF 2.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.T409T(1)									TAATGGATACCGTCCCTGCAG	0.468																																																1	Substitution - coding silent(1)	ovary(1)	19											124	117	119					19																	47423159		1915	4115	6030	52114999	SO:0001819	synonymous_variant	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1227C>A	19.37:g.47423159C>A			52114999	A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	CCDS46127.1																																																																																				0.468	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47423159	C	A	47423159	2	1	4	1	0	0	0	0	0	0	0	1	6795	639	23	3		3	ARHGAP35	19	47423159	Silent	SNP	C	TCGA-04-1337-01A-01W-0484-10	36111512	47423159	11705824	50	209											
CEACAM18	729767	hgsc.bcm.edu	37	19	51981792	51981792	+	5'Flank	SNP	C	C	T	rs140323408	byFrequency	TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr19:51981792C>T	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Nonsense_Mutation_p.R27*	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18									p.R27*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCTGGGAGACGAGACCGGCA	0.647													c|||	14	0.00279553	0.0098	0.0014	5008	,	,		12918	0		0	False		,,,				2504	0															1	Substitution - Nonsense(1)	ovary(1)	19						C	stop/ARG	6,3882		0,6,1938	13	16	15		79	-5	0	19	dbSNP_134	15	0,8278		0,0,4139	yes	stop-gained	CEACAM18	NM_001080405.1		0,6,6077	TT,TC,CC		0.0,0.1543,0.0493		27/399	51981792	6,12160	1944	4139	6083	56673604	SO:0001631	upstream_gene_variant	729767					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981792C>T	Exception_encountered		56673604	C9JN24	Nonsense_Mutation	SNP	ENST00000396477.4	37		15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	.	13.75	2.330880	0.41297	0.001543	0.0	ENSG00000213822	ENST00000451626	.	.	.	2.51	-5.01	0.02991	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.3422	0.02156	0.2541:0.3772:0.2242:0.1444	.	.	.	.	X	27	.	ENSP00000402203:R27X	R	+	1	2	CEACAM18	56673604	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.690000	0.05138	-0.948000	0.03668	-2.366000	0.00237	CGA		0.647	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			T	51981792	C	T	51981792	1	4	4	0	1	0	0	0	0	0	0	0	3189	528	19	1		1	CEACAM18	19	51981792	5'Flank	SNP	C	TCGA-04-1337-01A-01W-0484-10	4558633	51981792	7147191	51	210											
ZNF582	147948	hgsc.bcm.edu	37	19	56895794	56895794	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr19:56895794G>C	ENST00000301310.4	-	5	1150	c.992C>G	c.(991-993)aCt>aGt	p.T331S	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.T331S	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T331S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AGTATGAACAGTCTGATGTTG	0.388																																					Ovarian(183;1887 2032 4349 30507 51343)											1	Substitution - Missense(1)	ovary(1)	19											92	91	92					19																	56895794		2203	4300	6503	61587606	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.992C>G	19.37:g.56895794G>C	ENSP00000301310:p.Thr331Ser		61587606	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044416	0.36085	.	.	ENSG00000018869	ENST00000301310	T	0.16597	2.33	4.6	-9.2	0.00682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36665	N	0.002466	T	0.08714	0.0216	N	0.04355	-0.22	0.09310	N	1	P;P	0.49185	0.915;0.92	P;P	0.45071	0.468;0.468	T	0.40664	-0.9551	10	0.72032	D	0.01	.	20.3771	0.98923	0.0:0.7835:0.1283:0.0882	.	331;362	Q96NG8;B4DQZ9	ZN582_HUMAN;.	S	331	ENSP00000301310:T331S	ENSP00000301310:T331S	T	-	2	0	ZNF582	61587606	0.000000	0.05858	0.002000	0.10522	0.055000	0.15305	-0.585000	0.05794	-1.290000	0.02372	-0.181000	0.13052	ACT		0.388	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		C	56895794	G	C	56895794	3	2	4	1	0	0	0	0	1	0	0	0	18014	1029	36	3	565	3	ZNF582	19	56895794	Missense_Mutation	SNP	G	TCGA-04-1337-01A-01W-0484-10	4914002	56895794	2233189	52	211											
PEG3	5178	hgsc.bcm.edu	37	19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R598H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcacgttcatgttc	0.458																																																2	Substitution - Missense(2)	ovary(2)	19											106	83	91					19																	57328017		2203	4300	6503	62019829	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1793G>A	19.37:g.57328017C>T	ENSP00000326581:p.Arg598His		62019829	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775804	0.02951	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	1.08	-0.0769	0.13721	.	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	.	.	.	B;B;P	0.40107	0.055;0.291;0.703	B;B;B	0.23150	0.001;0.013;0.044	T	0.41251	-0.9519	8	0.56958	D	0.05	.	3.4582	0.07523	0.0:0.7126:0.0:0.2874	.	474;598;533	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	598	ENSP00000326581:R598H;ENSP00000403051:R598H	ENSP00000326581:R598H	R	-	2	0	ZIM2	62019829	0.000000	0.05858	0.010000	0.14722	0.165000	0.22458	-0.044000	0.12023	0.063000	0.16370	0.525000	0.51046	CGT		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57328017	C	T	57328017	3	4	4	1	0	0	0	0	1	0	0	0	11720	536	19	1	2977	1	PEG3	19	57328017	Missense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	432223	57328017	1800966	53	212											
CABIN1	23523	hgsc.bcm.edu	37	22	24483449	24483449	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chr22:24483449T>A	ENST00000398319.2	+	23	3693	c.3308T>A	c.(3307-3309)aTt>aAt	p.I1103N	CABIN1_ENST00000405822.2_Missense_Mutation_p.I1053N|CABIN1_ENST00000263119.5_Missense_Mutation_p.I1103N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1103					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.Q1104fs*4(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCAGCCGCATTCAGGACAAG	0.542																																																1	Deletion - Frameshift(1)	ovary(1)	22											65	60	61					22																	24483449		2203	4300	6503	22813449	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3308T>A	22.37:g.24483449T>A	ENSP00000381364:p.Ile1103Asn		22813449	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610513	0.87258	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.77229	-1.08;-1.08;-1.08	5.1	5.1	0.69264	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.88443	0.3043	10	0.87932	D	0	.	14.4385	0.67298	0.0:0.0:0.0:1.0	.	1053;1103	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	N	1103;1053;1103	ENSP00000263119:I1103N;ENSP00000384694:I1053N;ENSP00000381364:I1103N	ENSP00000263119:I1103N	I	+	2	0	CABIN1	22813449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.923000	0.87546	2.077000	0.62373	0.529000	0.55759	ATT		0.542	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24483449	T	A	24483449	3	1	4	1	0	0	0	0	1	0	0	0	2528	1493	52	5	3394	5	CABIN1	22	24483449	Missense_Mutation	SNP	T	TCGA-04-1337-01A-01W-0484-10		24483449	26821117	54	213											
CFP	5199	hgsc.bcm.edu	37	X	47489234	47489234	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chrX:47489234C>T	ENST00000396992.3	-	1	130	c.10G>A	c.(10-12)Gag>Aag	p.E4K	CFP_ENST00000377005.2_Missense_Mutation_p.E4K|CFP_ENST00000247153.3_Missense_Mutation_p.E4K|CFP_ENST00000480317.1_5'UTR	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	4					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.E4K(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TGCGCTCCCTCTGTGATCATG	0.632																																																1	Substitution - Missense(1)	ovary(1)	X											25	23	24					X																	47489234		2109	4034	6143	47374178	SO:0001583	missense	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.10G>A	X.37:g.47489234C>T	ENSP00000380189:p.Glu4Lys		47374178	O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536078	0.27475	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.40756	1.02;1.02;1.03	4.78	0.365	0.16131	.	2.446700	0.01046	N	0.004391	T	0.20861	0.0502	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.10177	-1.0641	10	0.14656	T	0.56	.	2.3105	0.04185	0.1222:0.3744:0.3341:0.1694	.	4	P27918	PROP_HUMAN	K	4	ENSP00000380189:E4K;ENSP00000247153:E4K;ENSP00000366204:E4K	ENSP00000247153:E4K	E	-	1	0	CFP	47374178	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.014000	0.12656	0.107000	0.17824	-1.090000	0.02178	GAG		0.632	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		T	47489234	C	T	47489234	3	4	4	1	0	0	0	0	1	0	0	0	3293	922	32	2	1435	2	CFP	23	47489234	Missense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10		47489234	107781326	55	214											
GRIPAP1	56850	hgsc.bcm.edu	37	X	48831566	48831566	+	Splice_Site	SNP	C	C	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chrX:48831566C>T	ENST00000376441.1	-	25	2468		c.e25+1		GRIPAP1_ENST00000376444.3_Splice_Site|GRIPAP1_ENST00000376425.3_Splice_Site|GRIPAP1_ENST00000473581.1_5'Flank	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							blood microparticle (GO:0072562)|endosome (GO:0005768)		p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GCCACACTTGCCTTGTGCAAG	0.587																																																1	Unknown(1)	ovary(1)	X											59	46	50					X																	48831566		2203	4300	6503	48716510	SO:0001630	splice_region_variant	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2433+1G>A	X.37:g.48831566C>T			48716510	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Splice_Site	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605237	0.66445	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6458	0.51261	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIPAP1	48716510	1.000000	0.71417	0.989000	0.46669	0.869000	0.49853	5.154000	0.64894	1.674000	0.50907	0.488000	0.48403	.		0.587	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672	Intron	T	48831566	C	T	48831566	5	4	4	1	0	0	0	0	0	0	1	0	6789	753	26	2	99	2	GRIPAP1	23	48831566	Splice_Site	SNP	C	TCGA-04-1337-01A-01W-0484-10	1342332	48831566	106438994	56	215											
GRIPAP1	56850	hgsc.bcm.edu	37	X	48853699	48853699	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chrX:48853699C>T	ENST00000376441.1	-	5	303	c.269G>A	c.(268-270)cGt>cAt	p.R90H	GRIPAP1_ENST00000376444.3_Intron|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R90H|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.R90H	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	90						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.R90H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GTTCTGCAAACGGAAGTCCTC	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											100	65	77					X																	48853699		2203	4297	6500	48738643	SO:0001583	missense	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.269G>A	X.37:g.48853699C>T	ENSP00000365624:p.Arg90His		48738643	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.574175	0.86542	.	.	ENSG00000068400	ENST00000376425;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T	0.26957	1.7;1.7;1.7	5.5	4.62	0.57501	.	0.147481	0.43260	D	0.000583	T	0.47673	0.1458	M	0.71581	2.175	0.26607	N	0.972919	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.938	T	0.42916	-0.9423	10	0.56958	D	0.05	-4.7	12.0373	0.53433	0.173:0.827:0.0:0.0	.	90;90	Q4V328-2;Q4V328	.;GRAP1_HUMAN	H	90	ENSP00000365608:R90H;ENSP00000365624:R90H;ENSP00000365606:R90H	ENSP00000365606:R90H	R	-	2	0	GRIPAP1	48738643	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	4.719000	0.61937	1.086000	0.41228	0.515000	0.50301	CGT		0.547	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		T	48853699	C	T	48853699	3	4	4	1	0	0	0	0	1	0	0	0	6789	536	19	1	2398	1	GRIPAP1	23	48853699	Missense_Mutation	SNP	C	TCGA-04-1337-01A-01W-0484-10	22133	48853699	106416861	57	216											
MAGEC3	139081	hgsc.bcm.edu	37	X	140984668	140984668	+	Splice_Site	SNP	A	A	G			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chrX:140984668A>G	ENST00000298296.1	+	7	1124	c.1124A>G	c.(1123-1125)gAa>gGa	p.E375G	MAGEC3_ENST00000536088.1_Missense_Mutation_p.E77G|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E77G|MAGEC3_ENST00000443323.2_5'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E77G	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	375	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E77G(1)|p.E375G(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGTTCCAGAAGATGAGGAT	0.552																																																2	Substitution - Missense(2)	ovary(2)	X											73	51	59					X																	140984668		2196	4284	6480	140812334	SO:0001630	splice_region_variant	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1124-1A>G	X.37:g.140984668A>G			140812334	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	a	4.759	0.141042	0.09083	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000544766;ENST00000409007	T;T;T;T	0.04603	3.82;3.59;3.59;3.59	0.89	-1.78	0.07957	.	.	.	.	.	T	0.02688	0.0081	L	0.29908	0.895	0.21627	N	0.999619	B;B	0.32409	0.37;0.37	B;B	0.20955	0.017;0.032	T	0.36986	-0.9725	8	0.51188	T	0.08	.	.	.	.	.	375;77	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	G	375;77;77;77	ENSP00000298296:E375G;ENSP00000441107:E77G;ENSP00000440444:E77G;ENSP00000386566:E77G	ENSP00000298296:E375G	E	+	2	0	MAGEC3	140812334	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.367000	0.20382	-1.612000	0.01579	-1.042000	0.02369	GAA		0.552	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	Missense_Mutation	G	140984668	A	G	140984668	5	3	4	1	0	0	0	0	0	0	1	0	9182	260	9	4	1379	4	MAGEC3	23	140984668	Splice_Site	SNP	A	TCGA-04-1337-01A-01W-0484-10	92130969	140984668	14285892	58	217											
L1CAM	3897	hgsc.bcm.edu	37	X	153130288	153130288	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1337-01A-01W-0484-10	TCGA-04-1337-11A-01W-0485-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2e66cec2-3607-42bd-92a0-663acbdff603	37a7e144-be8e-4b99-8c8b-7c7dc4bc3ccf	g.chrX:153130288T>G	ENST00000370060.1	-	23	3223	c.3034A>C	c.(3034-3036)Atg>Ctg	p.M1012L	L1CAM_ENST00000370055.1_Missense_Mutation_p.M1007L|L1CAM_ENST00000543994.1_Missense_Mutation_p.M1014L|L1CAM_ENST00000538883.1_Missense_Mutation_p.M1014L|L1CAM_ENST00000361981.3_Missense_Mutation_p.M1007L|L1CAM_ENST00000361699.4_Missense_Mutation_p.M1012L|L1CAM_ENST00000370057.3_Missense_Mutation_p.M1012L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1012	Fibronectin type-III 4. {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.M1012L(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)					GACAAGGCCATAGTGCCTCCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	X											106	99	102					X																	153130288		2203	4300	6503	152783482	SO:0001583	missense	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.3034A>C	X.37:g.153130288T>G	ENSP00000359077:p.Met1012Leu		152783482	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295395	0.40594	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.57595	0.39;0.4;0.39;0.4;0.42;0.42;0.39	5.17	5.17	0.71159	.	0.161283	0.41194	D	0.000926	T	0.34250	0.0891	N	0.19112	0.55	0.37628	D	0.921553	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.001;0.004;0.001	T	0.25916	-1.0118	10	0.10377	T	0.69	.	11.936	0.52874	0.0:0.0:0.0:1.0	.	1007;1012;1012	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	1012;1014;1012;1014;1007;1007;1012	ENSP00000359077:M1012L;ENSP00000438430:M1014L;ENSP00000359074:M1012L;ENSP00000439645:M1014L;ENSP00000354712:M1007L;ENSP00000359072:M1007L;ENSP00000355380:M1012L	ENSP00000355380:M1012L	M	-	1	0	L1CAM	152783482	1.000000	0.71417	0.970000	0.41538	0.915000	0.54546	2.884000	0.48562	1.721000	0.51461	0.430000	0.28490	ATG		0.637	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		G	153130288	T	G	153130288	3	3	4	1	0	0	0	0	1	0	0	0	8588	1406	49	5	767	5	L1CAM	23	153130288	Missense_Mutation	SNP	T	TCGA-04-1337-01A-01W-0484-10	12145620	153130288	2140272	59	218											
MTOR	2475	hgsc.bcm.edu	37	1	11291383	11291383	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:11291383C>T	ENST00000361445.4	-	17	2699	c.2623G>A	c.(2623-2625)Gag>Aag	p.E875K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	875					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.E875K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGGTTCTGCTCAGTCTTCAGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											242	230	234					1																	11291383		2203	4300	6503	11213970	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2623G>A	1.37:g.11291383C>T	ENSP00000354558:p.Glu875Lys		11213970	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625038	0.96660	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.10382	2.88	5.84	5.84	0.93424	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.90252	3.1	0.80722	D	1	D	0.65815	0.995	D	0.64506	0.926	T	0.47923	-0.9079	10	0.87932	D	0	-21.4548	20.1346	0.98019	0.0:1.0:0.0:0.0	.	875	P42345	MTOR_HUMAN	K	875	ENSP00000354558:E875K	ENSP00000354558:E875K	E	-	1	0	MTOR	11213970	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.381000	0.79718	2.765000	0.95021	0.655000	0.94253	GAG		0.512	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11291383	C	T	11291383	3	4	5	1	0	0	0	0	1	0	0	0	9954	835	29	2	5194	2	MTOR	1	11291383	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10		11291383	237959238	1	219											
C1orf38	9473	hgsc.bcm.edu	37	1	28206221	28206221	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:28206221C>T	ENST00000373921.3	+	3	306	c.302C>T	c.(301-303)aCt>aTt	p.T101I	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Missense_Mutation_p.T101I|THEMIS2_ENST00000328928.7_Missense_Mutation_p.T101I	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	101	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T101I(1)									TCTGCCACAACTCAGAGCTCC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											99	96	97					1																	28206221		2203	4300	6503	28078808	SO:0001583	missense	9473			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.302C>T	1.37:g.28206221C>T	ENSP00000363031:p.Thr101Ile		28078808	A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057937	0.36277	.	.	ENSG00000130775	ENST00000373925;ENST00000328928;ENST00000427466;ENST00000373921	T;T	0.23147	1.93;1.92	4.37	1.26	0.21427	.	0.376195	0.30168	N	0.010259	T	0.27663	0.0680	L	0.60455	1.87	0.09310	N	1	P;P;P;P	0.50443	0.815;0.815;0.642;0.935	B;B;B;P	0.49708	0.295;0.39;0.393;0.62	T	0.14476	-1.0471	10	0.22706	T	0.39	-1.0002	7.1238	0.25461	0.3476:0.4839:0.1685:0.0	.	101;101;101;101	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8;Q5TEJ8-2	.;.;THMS2_HUMAN;.	I	101;101;54;101	ENSP00000329862:T101I;ENSP00000363031:T101I	ENSP00000329862:T101I	T	+	2	0	C1orf38	28078808	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.029000	0.13666	0.034000	0.15491	-0.268000	0.10319	ACT		0.592	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		T	28206221	C	T	28206221	3	4	5	1	0	0	0	0	1	0	0	0	2039	565	20	2	312	2	C1orf38	1	28206221	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	16914838	28206221	221044400	2	220											
ZCCHC17	51538	hgsc.bcm.edu	37	1	31811817	31811817	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:31811817G>C	ENST00000373714.1	+	5	500	c.239G>C	c.(238-240)aGa>aCa	p.R80T	RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.R72T|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.R56T|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.R80T	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	80	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R80T(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AAAAATGATAGAATAAAAGTA	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											64	65	65					1																	31811817		2203	4300	6503	31584404	SO:0001583	missense	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.239G>C	1.37:g.31811817G>C	ENSP00000362819:p.Arg80Thr		31584404	B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	CCDS341.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842830	0.71488	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.41	4.43	0.53597	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.042911	0.85682	D	0.000000	T	0.55465	0.1922	M	0.84585	2.705	0.33594	D	0.601468	P;P;P	0.42993	0.682;0.797;0.594	P;P;P	0.48063	0.565;0.495;0.535	T	0.69778	-0.5053	10	0.56958	D	0.05	.	5.4736	0.16684	0.2356:0.0:0.7644:0.0	.	56;72;80	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	T	80;80;72;56	ENSP00000343557:R80T;ENSP00000362819:R80T;ENSP00000444742:R72T;ENSP00000391336:R56T	ENSP00000343557:R80T	R	+	2	0	ZCCHC17	31584404	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.040000	0.70980	2.822000	0.97130	0.557000	0.71058	AGA		0.343	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		C	31811817	G	C	31811817	3	2	5	1	0	0	0	0	1	0	0	0	17585	942	33	3	253	3	ZCCHC17	1	31811817	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	3605596	31811817	217438804	3	221											
TNNI3K	100526835	hgsc.bcm.edu	37	1	74905203	74905203	+	Silent	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:74905203C>T	ENST00000370899.3	+	22	2248	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	TNNI3K_ENST00000326637.3_Silent_p.F636F|TNNI3K_ENST00000370891.2_Silent_p.F737F|FPGT-TNNI3K_ENST00000557284.2_Silent_p.F750F	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.F636F(1)									CTGAGGTGTTCACGCAGTGCA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	1											165	136	146					1																	74905203		2203	4300	6503	74677791	SO:0001819	synonymous_variant	51086					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2211C>T	1.37:g.74905203C>T			74677791		Silent	SNP	ENST00000370899.3	37																																																																																					0.483	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			T	74905203	C	T	74905203	2	4	5	1	0	0	0	0	0	0	0	1	16329	825	29	2		2	TNNI3K	1	74905203	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	43093386	74905203	174345418	4	222											
SLC44A5	204962	hgsc.bcm.edu	37	1	75684941	75684941	+	Splice_Site	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:75684941C>G	ENST00000370855.5	-	16	1380		c.e16+1		SLC44A5_ENST00000370859.3_Splice_Site|SLC44A5_ENST00000535611.1_Splice_Site	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTTGTACTTACCTCTGGGTCA	0.408																																																1	Unknown(1)	ovary(1)	1											93	88	89					1																	75684941		2203	4300	6503	75457529	SO:0001630	splice_region_variant	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1266+1G>C	1.37:g.75684941C>G			75457529	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.453092	0.84209	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3248	0.90250	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC44A5	75457529	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.117000	0.77129	2.397000	0.81536	0.655000	0.94253	.		0.408	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	Intron	G	75684941	C	G	75684941	5	3	5	1	0	0	0	0	0	0	1	0	14642	521	18	3	1039	3	SLC44A5	1	75684941	Splice_Site	SNP	C	TCGA-04-1338-01A-01W-0484-10	779738	75684941	173565680	5	223											
TGFBR3	7049	hgsc.bcm.edu	37	1	92224274	92224274	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:92224274G>T	ENST00000525962.1	-	3	341	c.280C>A	c.(280-282)Cac>Aac	p.H94N	TGFBR3_ENST00000212355.4_Missense_Mutation_p.H94N|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H94N			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	94					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.H94N(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGGTGGATGTGGACTGAGGAG	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											159	136	144					1																	92224274		2203	4300	6503	91996862	SO:0001583	missense	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.280C>A	1.37:g.92224274G>T	ENSP00000436127:p.His94Asn		91996862	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346795	0.41599	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.5	4.59	0.56863	.	0.332241	0.36628	N	0.002495	T	0.15349	0.0370	L	0.60455	1.87	0.42057	D	0.991147	P;P	0.37914	0.493;0.611	B;B	0.41813	0.367;0.354	T	0.04551	-1.0943	10	0.08179	T	0.78	-11.6316	10.7234	0.46052	0.1459:0.0:0.8541:0.0	.	94;94	Q03167-2;Q03167	.;TGBR3_HUMAN	N	94	ENSP00000212355:H94N;ENSP00000359426:H94N;ENSP00000436127:H94N;ENSP00000432638:H94N	ENSP00000212355:H94N	H	-	1	0	TGFBR3	91996862	0.857000	0.29778	0.993000	0.49108	0.861000	0.49209	1.083000	0.30815	1.334000	0.45468	0.561000	0.74099	CAC		0.522	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		T	92224274	G	T	92224274	3	4	5	1	0	0	0	0	1	0	0	0	15823	1348	47	3	2331	3	TGFBR3	1	92224274	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	16539333	92224274	157026347	6	224											
AMPD2	271	hgsc.bcm.edu	37	1	110168974	110168974	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:110168974C>A	ENST00000256578.3	+	5	978	c.618C>A	c.(616-618)gaC>gaA	p.D206E	AMPD2_ENST00000528667.1_Missense_Mutation_p.D206E|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.D131E|AMPD2_ENST00000342115.4_Missense_Mutation_p.D125E|AMPD2_ENST00000393688.3_Missense_Mutation_p.D87E|AMPD2_ENST00000528454.1_Missense_Mutation_p.D88E	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	206					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.D206E(1)|p.D125E(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCAGGGTGACCGGAGCCTGC	0.622																																																2	Substitution - Missense(2)	ovary(2)	1											45	42	43					1																	110168974		2203	4300	6503	109970497	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.618C>A	1.37:g.110168974C>A	ENSP00000256578:p.Asp206Glu		109970497	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.24|10.24	1.296975|1.296975	0.23650|0.23650	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000527846;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;T;T;D|.	0.85013|.	-1.9;-1.93;-1.93;1.34;1.34;-1.9|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.531595|.	0.19307|.	N|.	0.117484|.	T|T	0.20577|0.20577	0.0495|0.0495	N|N	0.16743|0.16743	0.435|0.435	0.33178|0.33178	D|D	0.549232|0.549232	B;B;B;B|.	0.11235|.	0.004;0.004;0.003;0.001|.	B;B;B;B|.	0.11329|.	0.006;0.003;0.002;0.003|.	T|T	0.10405|0.10405	-1.0631|-1.0631	10|5	0.12766|.	T|.	0.61|.	-41.0992|-41.0992	10.8398|10.8398	0.46708|0.46708	0.0:0.9115:0.0:0.0885|0.0:0.9115:0.0:0.0885	.|.	131;87;206;125|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	E|T	125;206;206;131;173;88;87|177	ENSP00000345498:D125E;ENSP00000436541:D206E;ENSP00000256578:D206E;ENSP00000351573:D131E;ENSP00000437164:D88E;ENSP00000377292:D87E|.	ENSP00000256578:D206E|.	D|P	+|+	3|1	2|0	AMPD2|AMPD2	109970497|109970497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.242000|1.242000	0.32755|0.32755	2.337000|2.337000	0.79520|0.79520	0.462000|0.462000	0.41574|0.41574	GAC|CCG		0.622	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			A	110168974	C	A	110168974	3	1	5	1	0	0	0	0	1	0	0	0	586	506	18	3	677	3	AMPD2	1	110168974	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	17944700	110168974	139081647	7	225											
CSF1	1435	hgsc.bcm.edu	37	1	110464475	110464475	+	Missense_Mutation	SNP	G	G	A	rs377085953		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:110464475G>A	ENST00000329608.6	+	5	794	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000369801.1_Missense_Mutation_p.V135I|CSF1_ENST00000369802.3_Missense_Mutation_p.V135I|CSF1_ENST00000420111.2_Missense_Mutation_p.V135I|CSF1_ENST00000344188.5_Missense_Mutation_p.V135I	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	135					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)	p.V135I(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGCCTGCGTCCGAACTTT	0.463																																																1	Substitution - Missense(1)	ovary(1)	1						G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	148	150	149		403,403,403,403	2.3	1	1		149	0,8600		0,0,4300	no	missense,missense,missense,missense	CSF1	NM_000757.5,NM_172210.2,NM_172211.2,NM_172212.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	135/555,135/439,135/257,135/555	110464475	1,13005	2203	4300	6503	110265998	SO:0001583	missense	1435			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.403G>A	1.37:g.110464475G>A	ENSP00000327513:p.Val135Ile		110265998	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	CCDS816.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078755	0.36662	2.27E-4	0.0	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67	5.23	2.33	0.28932	Four-helical cytokine-like, core (1);	0.374640	0.23799	N	0.044453	T	0.14614	0.0353	L	0.56769	1.78	0.28155	N	0.929234	D;D;D	0.76494	0.97;0.996;0.999	B;P;D	0.72075	0.368;0.782;0.976	T	0.03443	-1.1036	10	0.40728	T	0.16	.	8.0045	0.30317	0.2662:0.0:0.7338:0.0	.	135;135;135	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	I	142;94;135;135;94;135;135;135	ENSP00000434527:V142I;ENSP00000431547:V94I;ENSP00000342718:V135I;ENSP00000327513:V135I;ENSP00000433837:V94I;ENSP00000358817:V135I;ENSP00000407317:V135I;ENSP00000358816:V135I	ENSP00000327513:V135I	V	+	1	0	CSF1	110265998	0.978000	0.34361	0.956000	0.39512	0.228000	0.25075	0.795000	0.26972	0.611000	0.30052	-0.333000	0.08304	GTC		0.463	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		A	110464475	G	A	110464475	3	1	5	1	0	0	0	0	1	0	0	0	3931	1145	40	1	421	1	CSF1	1	110464475	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	295501	110464475	138786146	8	226											
CELF3	11189	hgsc.bcm.edu	37	1	151681510	151681510	+	Silent	SNP	C	C	T	rs139969209		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:151681510C>T	ENST00000290583.4	-	5	1243	c.450G>A	c.(448-450)gcG>gcA	p.A150A	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Silent_p.A150A|CELF3_ENST00000392706.3_5'Flank|RP11-98D18.1_ENST00000457548.1_RNA|AL589765.1_ENST00000442233.2_5'Flank|RIIAD1_ENST00000326413.3_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A150A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGTTGATGGCCGCCTGGGCCT	0.692																																																1	Substitution - coding silent(1)	ovary(1)	1						C	,,	1,4405		0,1,2202	76	81	79		309,450,450	-8.5	1	1	dbSNP_134	79	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CELF3	NM_001172648.1,NM_001172649.1,NM_007185.4	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	103/419,150/416,150/466	151681510	3,13003	2203	4300	6503	149948134	SO:0001819	synonymous_variant	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.450G>A	1.37:g.151681510C>T			149948134	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249938	0.22880	2.27E-4	2.33E-4	ENSG00000159409	ENST00000420342	.	.	.	4.26	-8.52	0.00920	.	.	.	.	.	T	0.18676	0.0448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44483	-0.9325	4	.	.	.	-7.3298	2.3118	0.04188	0.1312:0.3832:0.1211:0.3645	.	.	.	.	Q	151	.	.	R	-	2	0	CELF3	149948134	0.000000	0.05858	0.957000	0.39632	0.857000	0.48899	-4.705000	0.00196	-1.098000	0.03038	-1.724000	0.00704	CGG		0.692	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		T	151681510	C	T	151681510	2	4	5	1	0	0	0	0	0	0	0	1	3217	639	23	1		1	CELF3	1	151681510	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	41217035	151681510	97569111	9	227											
ATP1A2	477	hgsc.bcm.edu	37	1	160104401	160104401	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:160104401T>C	ENST00000361216.3	+	14	2044	c.1955T>C	c.(1954-1956)gTc>gCc	p.V652A	ATP1A2_ENST00000392233.3_Missense_Mutation_p.V652A	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	652					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.V652A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGAGTCAAGTCAACCCCAGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											113	93	100					1																	160104401		2203	4300	6503	158371025	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1955T>C	1.37:g.160104401T>C	ENSP00000354490:p.Val652Ala		158371025	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.077445|4.077445	0.76528|0.76528	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.94828	.|-3.52;-3.53	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93916|0.93916	0.8053|0.8053	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P	.|0.40398	.|0.668;0.716	.|P;P	.|0.59546	.|0.78;0.859	D|D	0.94807|0.94807	0.7975|0.7975	5|10	.|0.56958	.|D	.|0.05	.|.	13.994|13.994	0.64386|0.64386	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|552;652	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	P|A	363|652;652;355	.|ENSP00000354490:V652A;ENSP00000376066:V652A	.|ENSP00000354490:V652A	S|V	+|+	1|2	0|0	ATP1A2|ATP1A2	158371025|158371025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.997000|7.997000	0.88414|0.88414	1.997000|1.997000	0.58415|0.58415	0.459000|0.459000	0.35465|0.35465	TCA|GTC		0.552	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		C	160104401	T	C	160104401	3	2	5	1	0	0	0	0	1	0	0	0	1129	1667	58	4	2009	4	ATP1A2	1	160104401	Missense_Mutation	SNP	T	TCGA-04-1338-01A-01W-0484-10	8422891	160104401	89146220	10	228											
IRF6	3664	hgsc.bcm.edu	37	1	209964227	209964227	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr1:209964227C>G	ENST00000367021.3	-	7	845	c.673G>C	c.(673-675)Gac>Cac	p.D225H	IRF6_ENST00000542854.1_Missense_Mutation_p.D130H	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	225					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D225H(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGTCCAGGTCAGTCACTGCA	0.537										HNSCC(57;0.16)																																						1	Substitution - Missense(1)	ovary(1)	1											96	85	89					1																	209964227		2203	4300	6503	208030850	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.673G>C	1.37:g.209964227C>G	ENSP00000355988:p.Asp225His		208030850	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864541	0.91511	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.94280	-3.39;-3.39;-3.39	5.91	5.91	0.95273	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96442	0.9327	9	.	.	.	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	225	O14896	IRF6_HUMAN	H	225;130;225	ENSP00000355988:D225H;ENSP00000440532:D130H;ENSP00000403855:D225H	.	D	-	1	0	IRF6	208030850	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.311000	0.78958	2.793000	0.96121	0.655000	0.94253	GAC		0.537	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		G	209964227	C	G	209964227	3	3	5	1	0	0	0	0	1	0	0	0	7834	826	29	3	742	3	IRF6	1	209964227	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	49859826	209964227	39286394	11	229											
ATP6V1C2	245973	hgsc.bcm.edu	37	2	10904525	10904525	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:10904525G>C	ENST00000272238.4	+	5	461	c.352G>C	c.(352-354)Gtg>Ctg	p.V118L	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.V118L	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	118					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.V118M(1)|p.V118L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGCCGCTCGTGAGTGTGGT	0.522																																					NSCLC(188;1042 2136 10807 16813 47705)											2	Substitution - Missense(2)	ovary(2)	2											134	121	125					2																	10904525		2203	4300	6503	10821976	SO:0001583	missense	245973			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.352G>C	2.37:g.10904525G>C	ENSP00000272238:p.Val118Leu		10821976	Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209526	0.39003	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.42131	0.98;0.98	5.71	3.9	0.45041	.	0.415587	0.24229	N	0.040376	T	0.30916	0.0780	L	0.38531	1.155	0.22982	N	0.998476	B;B	0.13145	0.007;0.003	B;B	0.23852	0.029;0.049	T	0.26503	-1.0101	10	0.54805	T	0.06	-9.111	5.2725	0.15632	0.2287:0.1527:0.6186:0.0	.	118;118	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	L	118	ENSP00000272238:V118L;ENSP00000371077:V118L	ENSP00000272238:V118L	V	+	1	0	ATP6V1C2	10821976	1.000000	0.71417	0.836000	0.33094	0.795000	0.44927	3.260000	0.51523	0.747000	0.32809	0.655000	0.94253	GTG		0.522	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		C	10904525	G	C	10904525	3	2	5	1	0	0	0	0	1	0	0	0	1181	1145	40	3	366	3	ATP6V1C2	2	10904525	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10		10904525	232294848	12	230											
CLIP4	79745	hgsc.bcm.edu	37	2	29366687	29366687	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:29366687C>T	ENST00000320081.5	+	7	1016	c.761C>T	c.(760-762)gCg>gTg	p.A254V	CLIP4_ENST00000404424.1_Missense_Mutation_p.A254V|CLIP4_ENST00000401617.2_Missense_Mutation_p.A147V|CLIP4_ENST00000401605.1_Missense_Mutation_p.A254V	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	254								p.A254V(2)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CTTCTAGATGCGGTGCCTCTG	0.502																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	2											170	153	159					2																	29366687		2203	4300	6503	29220191	SO:0001583	missense	79745			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.761C>T	2.37:g.29366687C>T	ENSP00000327009:p.Ala254Val		29220191	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558807	0.65538	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.77750	-1.12;-0.84;-0.79;-0.79	5.64	5.64	0.86602	Cytoskeleton-associated protein, Gly-rich domain (1);	0.113685	0.64402	D	0.000015	D	0.82305	0.5008	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.60160	0.987;0.987	P;P	0.47864	0.536;0.559	D	0.84531	0.0633	10	0.66056	D	0.02	.	19.6883	0.95987	0.0:1.0:0.0:0.0	.	254;254	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	V	254;147;254;254;254;255;236	ENSP00000384242:A254V;ENSP00000385148:A147V;ENSP00000385594:A254V;ENSP00000327009:A254V	ENSP00000327009:A254V	A	+	2	0	CLIP4	29220191	1.000000	0.71417	0.046000	0.18839	0.034000	0.12701	4.550000	0.60733	2.654000	0.90174	0.650000	0.86243	GCG		0.502	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		T	29366687	C	T	29366687	3	4	5	1	0	0	0	0	1	0	0	0	3535	768	27	1	783	1	CLIP4	2	29366687	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	18462162	29366687	213832686	13	231											
USP34	9736	hgsc.bcm.edu	37	2	61438975	61438975	+	Missense_Mutation	SNP	G	G	C	rs200995448		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:61438975G>C	ENST00000398571.2	-	69	8848	c.8772C>G	c.(8770-8772)ttC>ttG	p.F2924L	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2924					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F2924L(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGTTTTCTTGAACTGTTTAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											102	95	97					2																	61438975		1848	4085	5933	61292479	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8772C>G	2.37:g.61438975G>C	ENSP00000381577:p.Phe2924Leu		61292479	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.393590|4.393590	0.83011|0.83011	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.63417|.	-0.04|.	6.06|6.06	4.92|4.92	0.64577|0.64577	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62768|0.62768	0.2455|0.2455	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999996|0.999996	P|.	0.49447|.	0.924|.	P|.	0.60682|.	0.878|.	T|T	0.60606|0.60606	-0.7230|-0.7230	10|5	0.72032|.	D|.	0.01|.	.|.	9.5156|9.5156	0.39104|0.39104	0.8569:0.0:0.1431:0.0|0.8569:0.0:0.1431:0.0	.|.	2924|.	Q70CQ2|.	UBP34_HUMAN|.	L|E	2772;2772;2924|684	ENSP00000381577:F2924L|.	ENSP00000263989:F2772L|.	F|Q	-|-	3|1	2|0	USP34|USP34	61292479|61292479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.429000|2.429000	0.44758|0.44758	1.123000|1.123000	0.41961|0.41961	-0.312000|-0.312000	0.09012|0.09012	TTC|CAA		0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61438975	G	C	61438975	3	2	5	1	0	0	0	0	1	0	0	0	17065	1281	45	3	1916	3	USP34	2	61438975	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	32072288	61438975	181760398	14	232											
USP34	9736	hgsc.bcm.edu	37	2	61575538	61575538	+	Silent	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:61575538C>A	ENST00000398571.2	-	15	1828	c.1752G>T	c.(1750-1752)ggG>ggT	p.G584G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	584					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G584G(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATCACTATGCCCACTACTGC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	2											130	131	131					2																	61575538		2091	4222	6313	61429042	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1752G>T	2.37:g.61575538C>A			61429042	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																				0.473	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61575538	C	A	61575538	2	1	5	1	0	0	0	0	0	0	0	1	17065	726	26	3		3	USP34	2	61575538	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	136563	61575538	181623835	15	233											
IMMT	10989	hgsc.bcm.edu	37	2	86398441	86398441	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:86398441G>A	ENST00000410111.3	-	5	836	c.449C>T	c.(448-450)tCt>tTt	p.S150F	IMMT_ENST00000442664.2_Missense_Mutation_p.S150F|IMMT_ENST00000409051.2_Intron|IMMT_ENST00000490238.1_5'Flank|IMMT_ENST00000449247.2_Intron|IMMT_ENST00000254636.5_Intron	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	150				EAAQIISA -> ARAPASLT (in Ref. 9; AAF73126). {ECO:0000305}.	mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.S150F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCTGCTGCAGAAATAATTTG	0.423																																																1	Substitution - Missense(1)	ovary(1)	2											53	53	53					2																	86398441		1922	4131	6053	86251952	SO:0001583	missense	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.449C>T	2.37:g.86398441G>A	ENSP00000387262:p.Ser150Phe		86251952	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341221	0.81911	.	.	ENSG00000132305	ENST00000410111;ENST00000442664;ENST00000377310	T;T	0.38077	1.16;1.22	5.09	5.09	0.68999	.	0.069203	0.64402	D	0.000011	T	0.38719	0.1051	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	D;D;D;D	0.83275	0.996;0.98;0.98;0.992	T	0.36040	-0.9764	9	.	.	.	-10.1436	15.1994	0.73122	0.0:0.0:1.0:0.0	.	147;150;150;150	Q05DN3;F8W9I1;Q16891-3;Q16891	.;.;.;IMMT_HUMAN	F	150	ENSP00000387262:S150F;ENSP00000407788:S150F	.	S	-	2	0	IMMT	86251952	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.177000	0.65032	2.378000	0.81104	0.491000	0.48974	TCT		0.423	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		A	86398441	G	A	86398441	3	1	5	1	0	0	0	0	1	0	0	0	7718	942	33	2	1871	2	IMMT	2	86398441	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	24822903	86398441	156800932	16	234											
REV1	51455	hgsc.bcm.edu	37	2	100020219	100020219	+	Silent	SNP	C	C	G	rs183307465	byFrequency	TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:100020219C>G	ENST00000258428.3	-	19	3333	c.3105G>C	c.(3103-3105)gcG>gcC	p.A1035A	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.A1034A|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1035					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.A1035A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGATCATACGCTGCTTTCA	0.498								Direct reversal of damage					c|||	5	0.000998403	0	0.0014	5008	,	,		19364	0		0.004	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2						G	,	1,4405	2.1+/-5.4	0,1,2202	114	104	107		3102,3105	-12.1	0	2		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	REV1	NM_001037872.1,NM_016316.2	,	0,2,6501	GG,GC,CC		0.0116,0.0227,0.0154	,	1034/1251,1035/1252	100020219	2,13004	2203	4300	6503	99386651	SO:0001819	synonymous_variant	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3105G>C	2.37:g.100020219C>G			99386651	O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	CCDS2045.1																																																																																				0.498	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		G	100020219	C	G	100020219	2	3	5	1	0	0	0	0	0	0	0	1	13242	523	19	3		3	REV1	2	100020219	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	13621778	100020219	143179154	17	235											
BAZ2B	29994	hgsc.bcm.edu	37	2	160294820	160294820	+	Silent	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:160294820G>T	ENST00000392783.2	-	8	1782	c.1287C>A	c.(1285-1287)tcC>tcA	p.S429S	BAZ2B_ENST00000392782.1_Silent_p.S427S|BAZ2B_ENST00000355831.2_Silent_p.S429S|BAZ2B_ENST00000343439.5_Silent_p.S427S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S429S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCACCCGTTTGGATCTCAATT	0.299																																																1	Substitution - coding silent(1)	ovary(1)	2											44	41	42					2																	160294820		1798	4063	5861	160003066	SO:0001819	synonymous_variant	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1287C>A	2.37:g.160294820G>T			160003066	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	CCDS2209.2																																																																																				0.299	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			T	160294820	G	T	160294820	2	4	5	1	0	0	0	0	0	0	0	1	1332	1335	47	3		3	BAZ2B	2	160294820	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10	60274601	160294820	82904553	18	236											
TTN	7273	hgsc.bcm.edu	37	2	179435114	179435114	+	Missense_Mutation	SNP	G	G	T	rs397517702	byFrequency	TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:179435114G>T	ENST00000591111.1	-	276	71046	c.70822C>A	c.(70822-70824)Cgc>Agc	p.R23608S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16376S|TTN_ENST00000589042.1_Missense_Mutation_p.R25249S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22681S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16309S|TTN_ENST00000460472.2_Missense_Mutation_p.R16184S|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23608	Fibronectin type-III 71. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R22679S(1)|p.R16184S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAACTAAGCGGCTGGTTTCT	0.438																																																2	Substitution - Missense(2)	ovary(2)	2											54	51	52					2																	179435114		1922	4130	6052	179143360	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70822C>A	2.37:g.179435114G>T	ENSP00000465570:p.Arg23608Ser		179143360	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	10.89	1.477687	0.26511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.57	4.69	0.59074	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65428	0.2690	L	0.41027	1.25	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.69573	-0.5109	9	0.87932	D	0	.	16.3452	0.83126	0.0:0.0:0.8672:0.1328	.	16184;16309;16376;23608	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	22681;16184;16376;16309;16182	ENSP00000343764:R22681S;ENSP00000434586:R16184S;ENSP00000340554:R16376S;ENSP00000352154:R16309S	ENSP00000340554:R16376S	R	-	1	0	TTN	179143360	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	3.307000	0.51888	1.454000	0.47793	0.650000	0.86243	CGC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179435114	G	T	179435114	3	4	5	1	0	0	0	0	1	0	0	0	16735	1116	39	3	32382	3	TTN	2	179435114	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	19140294	179435114	63764259	19	237											
CCDC141	285025	hgsc.bcm.edu	37	2	179718205	179718205	+	Missense_Mutation	SNP	C	C	A	rs373260016		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:179718205C>A	ENST00000420890.2	-	20	3324	c.3207G>T	c.(3205-3207)agG>agT	p.R1069S	CCDC141_ENST00000295723.5_Missense_Mutation_p.R494S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1069								p.R494S(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTCCTGAATCCTTTCTTCTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	2						C	SER/ARG	1,4405	2.1+/-5.4	0,1,2202	167	165	166		3207	1.6	1	2		166	0,8600		0,0,4300	no	missense	CCDC141	NM_173648.3	110	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	1069/1531	179718205	1,13005	2203	4300	6503	179426450	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3207G>T	2.37:g.179718205C>A	ENSP00000395995:p.Arg1069Ser		179426450	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	C	16.17	3.046340	0.55110	2.27E-4	0.0	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.35605	1.3;1.3;1.3	5.39	1.62	0.23740	.	0.111291	0.39985	N	0.001220	T	0.39172	0.1068	L	0.32530	0.975	0.26169	N	0.979897	D	0.69078	0.997	P	0.57101	0.813	T	0.31530	-0.9940	10	0.41790	T	0.15	-8.13	11.9098	0.52733	0.0:0.5661:0.0:0.4339	.	494	Q6ZP82	CC141_HUMAN	S	1069;513;494	ENSP00000395995:R1069S;ENSP00000344627:R513S;ENSP00000295723:R494S	ENSP00000295723:R494S	R	-	3	2	CCDC141	179426450	1.000000	0.71417	0.992000	0.48379	0.876000	0.50452	1.042000	0.30303	-0.184000	0.10567	-1.731000	0.00696	AGG		0.423	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		A	179718205	C	A	179718205	3	1	5	1	0	0	0	0	1	0	0	0	2775	854	30	3	1161	3	CCDC141	2	179718205	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	283091	179718205	63481168	20	238											
RNF25	64320	hgsc.bcm.edu	37	2	219529146	219529146	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr2:219529146G>A	ENST00000295704.2	-	10	1354	c.914C>T	c.(913-915)cCa>cTa	p.P305L		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	305					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P305L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGGAGGTGGCAAAGTGGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	2											88	84	85					2																	219529146		2203	4300	6503	219237390	SO:0001583	missense	64320				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.914C>T	2.37:g.219529146G>A	ENSP00000295704:p.Pro305Leu		219237390	A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157090	0.21454	.	.	ENSG00000163481	ENST00000295704	T	0.48522	0.81	5.09	5.09	0.68999	.	0.623617	0.15383	N	0.265228	T	0.35189	0.0923	N	0.22421	0.69	0.09310	N	0.999997	B	0.26635	0.155	B	0.26517	0.07	T	0.25293	-1.0136	10	0.62326	D	0.03	-11.3804	11.3123	0.49370	0.0:0.0:0.8186:0.1813	.	305	Q96BH1	RNF25_HUMAN	L	305	ENSP00000295704:P305L	ENSP00000295704:P305L	P	-	2	0	RNF25	219237390	0.420000	0.25457	0.576000	0.28549	0.376000	0.30014	4.842000	0.62831	2.826000	0.97356	0.561000	0.74099	CCA		0.542	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		A	219529146	G	A	219529146	3	1	5	1	0	0	0	0	1	0	0	0	13488	1348	47	2	469	2	RNF25	2	219529146	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	39810941	219529146	23670227	21	239											
GHRL	51738	hgsc.bcm.edu	37	3	10328459	10328459	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr3:10328459C>A	ENST00000335542.8	-	5	1133	c.263G>T	c.(262-264)gGg>gTg	p.G88V	GHRLOS_ENST00000603771.1_RNA|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000450603.1_Missense_Mutation_p.G88V|LINC00852_ENST00000475197.1_RNA|GHRL_ENST00000476283.1_5'UTR|GHRL_ENST00000449238.2_Missense_Mutation_p.G75V|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000287656.7_Missense_Mutation_p.G87V|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000430179.1_Missense_Mutation_p.G87V|GHRL_ENST00000457360.1_Missense_Mutation_p.G88V|GHRL_ENST00000437422.2_Missense_Mutation_p.G76V|GHRL_ENST00000449554.2_Missense_Mutation_p.G87V|GHRL_ENST00000439975.2_Missense_Mutation_p.G37V|GHRL_ENST00000422159.1_Intron|LINC00852_ENST00000538717.1_RNA|GHRL_ENST00000429122.1_Missense_Mutation_p.G88V			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	88					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)	p.G88V(1)		breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						GTACTGAACCCCTGACAGCTT	0.577											OREG0015386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	3											70	57	61					3																	10328459		2203	4300	6503	10303459	SO:0001583	missense	51738			AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"Endogenous ligands"	18129	protein-coding gene	gene with protein product	"prepro-appetite regulatory hormone"	605353	"ghrelin, growth hormone secretagogue receptor ligand"			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.263G>T	3.37:g.10328459C>A	ENSP00000335074:p.Gly88Val	663	10303459	A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Missense_Mutation	SNP	ENST00000335542.8	37	CCDS33700.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137341	0.56936	.	.	ENSG00000157017	ENST00000335542;ENST00000430179;ENST00000450603;ENST00000449554;ENST00000449238;ENST00000437422;ENST00000287656;ENST00000457360;ENST00000439975;ENST00000429122	T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	4.76	1.65	0.23941	Motilin/ghrelin-associated peptide (1);	0.224693	0.31177	N	0.008101	T	0.50633	0.1627	M	0.73962	2.25	0.48236	D	0.999613	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.484	D;D;D;D;B	0.97110	1.0;1.0;0.994;1.0;0.16	T	0.47420	-0.9119	10	0.51188	T	0.08	-14.1785	3.0853	0.06276	0.213:0.5562:0.0:0.2308	.	75;76;88;87;37	Q9UBU3-4;Q9UBU3-3;Q9UBU3;Q9UBU3-2;Q9UBU3-5	.;.;GHRL_HUMAN;.;.	V	88;87;88;87;75;76;87;88;37;88	ENSP00000335074:G88V;ENSP00000399922:G87V;ENSP00000389192:G88V;ENSP00000415521:G87V;ENSP00000388145:G75V;ENSP00000416768:G76V;ENSP00000287656:G87V;ENSP00000391406:G88V;ENSP00000403725:G37V;ENSP00000414819:G88V	ENSP00000287656:G87V	G	-	2	0	GHRL	10303459	0.993000	0.37304	0.957000	0.39632	0.995000	0.86356	1.750000	0.38329	0.576000	0.29452	0.655000	0.94253	GGG		0.577	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362		A	10328459	C	A	10328459	3	1	5	1	0	0	0	0	1	0	0	0	6374	623	22	3	98	3	GHRL	3	10328459	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10		10328459	187693971	22	240											
ACTR8	93973	hgsc.bcm.edu	37	3	53911334	53911334	+	Silent	SNP	A	A	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr3:53911334A>T	ENST00000335754.3	-	5	691	c.591T>A	c.(589-591)ccT>ccA	p.P197P	ACTR8_ENST00000482349.1_Silent_p.P86P|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	197					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.P197P(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GAGAGCCCCCAGGGCCTGGGT	0.428																																																1	Substitution - coding silent(1)	ovary(1)	3											68	74	72					3																	53911334		2203	4300	6503	53886374	SO:0001819	synonymous_variant	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.591T>A	3.37:g.53911334A>T			53886374	B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	CCDS2875.1																																																																																				0.428	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		T	53911334	A	T	53911334	2	4	5	1	0	0	0	0	0	0	0	1	217	175	7	5		5	ACTR8	3	53911334	Silent	SNP	A	TCGA-04-1338-01A-01W-0484-10	43582875	53911334	144111096	23	241											
FRMD4B	23150	hgsc.bcm.edu	37	3	69244235	69244235	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr3:69244235G>T	ENST00000398540.3	-	16	1509	c.1426C>A	c.(1426-1428)Cag>Aag	p.Q476K	FRMD4B_ENST00000478263.1_Missense_Mutation_p.Q128K|FRMD4B_ENST00000542259.1_Missense_Mutation_p.Q422K	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	476					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)		p.Q422K(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTTCTGACCTGAGGAGGCTTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											108	102	104					3																	69244235		1915	4136	6051	69326925	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1426C>A	3.37:g.69244235G>T	ENSP00000381549:p.Gln476Lys		69326925	Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	G	6.866	0.529054	0.13127	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.82081	-1.57;-1.56	5.62	5.62	0.85841	.	0.270551	0.39985	N	0.001214	T	0.70710	0.3255	L	0.28014	0.82	0.31885	N	0.617896	P;B	0.39717	0.684;0.008	B;B	0.37780	0.258;0.024	T	0.69075	-0.5241	10	0.05721	T	0.95	-13.5841	14.8288	0.70132	0.0:0.0:0.8561:0.1439	.	320;476	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	K	476;422;128	ENSP00000381549:Q476K;ENSP00000437658:Q422K	ENSP00000381549:Q476K	Q	-	1	0	FRMD4B	69326925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.106000	0.64597	2.810000	0.96702	0.585000	0.79938	CAG		0.458	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			T	69244235	G	T	69244235	3	4	5	1	0	0	0	0	1	0	0	0	6052	1299	45	3	1710	3	FRMD4B	3	69244235	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	15332901	69244235	128778195	24	242											
SHQ1	55164	hgsc.bcm.edu	37	3	72866458	72866458	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr3:72866458G>T	ENST00000325599.8	-	7	944	c.805C>A	c.(805-807)Cgt>Agt	p.R269S	SHQ1_ENST00000463369.1_Missense_Mutation_p.R241S	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	269					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R269G(1)|p.R269S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CACACTTGACGACAGGCTCTC	0.383																																																2	Substitution - Missense(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	3											151	135	141					3																	72866458		2203	4299	6502	72949148	SO:0001583	missense	55164			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.805C>A	3.37:g.72866458G>T	ENSP00000315182:p.Arg269Ser		72949148	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	G	9.386	1.074261	0.20227	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.31510	1.51;1.49	5.79	0.241	0.15494	SHQ1 protein (1);	0.849897	0.10755	N	0.637868	T	0.15825	0.0381	N	0.20685	0.6	0.09310	N	1	B	0.32968	0.392	B	0.32583	0.148	T	0.28554	-1.0040	10	0.10111	T	0.7	-10.8533	7.4868	0.27439	0.2774:0.0:0.6115:0.1111	.	269	Q6PI26	SHQ1_HUMAN	S	269;241	ENSP00000315182:R269S;ENSP00000417452:R241S	ENSP00000315182:R269S	R	-	1	0	SHQ1	72949148	0.012000	0.17670	0.025000	0.17156	0.868000	0.49771	1.034000	0.30204	0.081000	0.16988	-0.293000	0.09583	CGT		0.383	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		T	72866458	G	T	72866458	3	4	5	1	0	0	0	0	1	0	0	0	14295	1058	37	3	948	3	SHQ1	3	72866458	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	3622223	72866458	125155972	25	243											
C3orf30	152405	hgsc.bcm.edu	37	3	118866331	118866331	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr3:118866331T>C	ENST00000295622.1	+	1	1335	c.1295T>C	c.(1294-1296)tTc>tCc	p.F432S	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.F37S|IGSF11_ENST00000441144.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	432								p.F432S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCAGTAACTTCCAAGCAAAA	0.433																																																1	Substitution - Missense(1)	ovary(1)	3											130	129	129					3																	118866331		2203	4300	6503	120349021	SO:0001583	missense	152405			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1295T>C	3.37:g.118866331T>C	ENSP00000295622:p.Phe432Ser		120349021	A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542625	0.45280	.	.	ENSG00000163424;ENSG00000163424;ENSG00000251012	ENST00000295622;ENST00000470341;ENST00000490594	T;T	0.57273	2.4;0.41	4.41	-0.884	0.10597	.	0.700454	0.12454	N	0.467467	T	0.33294	0.0858	L	0.46157	1.445	0.09310	N	1	B;P	0.37276	0.426;0.589	B;B	0.33392	0.128;0.163	T	0.16247	-1.0409	10	0.16896	T	0.51	0.2944	2.6004	0.04865	0.3368:0.1916:0.0:0.4716	.	432;432	E9PFE5;Q96M34	.;CC030_HUMAN	S	432;432;37	ENSP00000295622:F432S;ENSP00000424708:F37S	ENSP00000295622:F432S	F	+	2	0	C3orf30;RP11-484M3.5	120349021	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.547000	0.23299	-0.121000	0.11787	-0.333000	0.08304	TTC		0.433	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		C	118866331	T	C	118866331	3	2	5	1	0	0	0	0	1	0	0	0	2220	1783	62	4	1297	4	C3orf30	3	118866331	Missense_Mutation	SNP	T	TCGA-04-1338-01A-01W-0484-10	45999873	118866331	79156099	26	244											
IL20RB	53833	hgsc.bcm.edu	37	3	136708314	136708314	+	Silent	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr3:136708314C>T	ENST00000329582.4	+	4	687	c.438C>T	c.(436-438)acC>acT	p.T146T	IL20RB_ENST00000309741.5_Silent_p.T99T|IL20RB_ENST00000484501.1_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	146	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)		p.T146T(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGGAGATCACCAAAGATGGCT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	3											88	82	84					3																	136708314		2203	4300	6503	138191004	SO:0001819	synonymous_variant	53833			BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.438C>T	3.37:g.136708314C>T			138191004	B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Silent	SNP	ENST00000329582.4	37	CCDS3093.1																																																																																				0.567	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		T	136708314	C	T	136708314	2	4	5	1	0	0	0	0	0	0	0	1	7669	581	21	2		2	IL20RB	3	136708314	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	17841983	136708314	61314116	27	245											
ECT2	1894	hgsc.bcm.edu	37	3	172473089	172473089	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr3:172473089G>C	ENST00000392692.3	+	3	311	c.135G>C	c.(133-135)gaG>gaC	p.E45D	ECT2_ENST00000441497.2_Missense_Mutation_p.E45D|ECT2_ENST00000232458.5_Missense_Mutation_p.E45D|ECT2_ENST00000427830.1_Missense_Mutation_p.E45D|ECT2_ENST00000417960.1_Splice_Site_p.E44D|ECT2_ENST00000540509.1_Missense_Mutation_p.E45D	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	45					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.E45D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TAACAGAAGAGATGCCTCAGA	0.318																																																1	Substitution - Missense(1)	ovary(1)	3											87	92	90					3																	172473089		2203	4296	6499	173955783	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.135G>C	3.37:g.172473089G>C	ENSP00000376457:p.Glu45Asp		173955783	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830324	0.32329	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.25;-0.23;-0.28;-0.28;0.76;0.79;0.78;0.79;0.79;-0.25;-0.23	5.58	4.43	0.53597	.	0.153445	0.64402	D	0.000020	T	0.58666	0.2138	L	0.50333	1.59	0.38089	D	0.936891	B;B;B;B	0.23058	0.03;0.079;0.079;0.051	B;B;B;B	0.22386	0.01;0.039;0.016;0.009	T	0.56329	-0.7997	10	0.31617	T	0.26	-22.7044	10.7727	0.46332	0.9242:0.0:0.0758:0.0	.	45;45;45;44	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	D	45;45;45;44;44;45;45;45;45;45;45	ENSP00000232458:E45D;ENSP00000376457:E45D;ENSP00000401910:E45D;ENSP00000415876:E44D;ENSP00000403501:E44D;ENSP00000412331:E45D;ENSP00000403446:E45D;ENSP00000412028:E45D;ENSP00000389108:E45D;ENSP00000412259:E45D;ENSP00000443160:E45D	ENSP00000232458:E45D	E	+	3	2	ECT2	173955783	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.932000	0.48940	0.959000	0.37980	-0.339000	0.08088	GAG		0.318	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		C	172473089	G	C	172473089	3	2	5	1	0	0	0	0	1	0	0	0	4901	933	33	3	141	3	ECT2	3	172473089	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	35764775	172473089	25549341	28	246											
FGF12	2257	hgsc.bcm.edu	37	3	192078254	192078254	+	Silent	SNP	A	A	T	rs111916094		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr3:192078254A>T	ENST00000454309.2	-	2	1098	c.273T>A	c.(271-273)ggT>ggA	p.G91G	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Silent_p.G29G|FGF12_ENST00000264730.3_Silent_p.G29G|FGF12_ENST00000445105.2_Silent_p.G29G	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	91					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.G91G(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CATCAATGGTACCATCTGGGT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	3											175	150	159					3																	192078254		2203	4300	6503	193560948	SO:0001819	synonymous_variant	2257			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b"	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.273T>A	3.37:g.192078254A>T			193560948	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	ENST00000454309.2	37	CCDS3301.1																																																																																				0.408	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		T	192078254	A	T	192078254	2	4	5	1	0	0	0	0	0	0	0	1	5841	378	14	5		5	FGF12	3	192078254	Silent	SNP	A	TCGA-04-1338-01A-01W-0484-10	19605165	192078254	5944176	29	247											
WHSC1	7468	hgsc.bcm.edu	37	4	1962765	1962765	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr4:1962765G>C	ENST00000382895.3	+	20	3690	c.3259G>C	c.(3259-3261)Gaa>Caa	p.E1087Q	WHSC1_ENST00000382888.3_Missense_Mutation_p.E435Q|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.E1087Q|WHSC1_ENST00000508803.1_Missense_Mutation_p.E1087Q|WHSC1_ENST00000382891.5_Missense_Mutation_p.E1087Q	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1087	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1087Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTTCCAGGGAGAATTTGTTAA	0.517			T	IGH@	MM																																		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	1	Substitution - Missense(1)	ovary(1)	4											261	215	231					4																	1962765		2203	4300	6503	1932563	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3259G>C	4.37:g.1962765G>C	ENSP00000372351:p.Glu1087Gln		1932563	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844237	0.91197	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.51	5.51	0.81932	SET domain (3);	0.000000	0.53938	D	0.000049	D	0.86802	0.6020	N	0.16656	0.425	0.80722	D	1	B;D	0.89917	0.298;1.0	B;D	0.81914	0.17;0.995	D	0.86178	0.1604	10	0.33141	T	0.24	.	19.4162	0.94700	0.0:0.0:1.0:0.0	.	435;1087	A2A2T2;O96028	.;NSD2_HUMAN	Q	1087;1087;1087;1087;435	ENSP00000423972:E1087Q;ENSP00000372347:E1087Q;ENSP00000372348:E1087Q;ENSP00000372351:E1087Q;ENSP00000372344:E435Q	ENSP00000372344:E435Q	E	+	1	0	WHSC1	1932563	1.000000	0.71417	0.975000	0.42487	0.970000	0.65996	7.789000	0.85783	2.605000	0.88082	0.655000	0.94253	GAA		0.517	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		C	1962765	G	C	1962765	3	2	5	1	0	0	0	0	1	0	0	0	17362	943	33	3	3401	3	WHSC1	4	1962765	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10		1962765	189191511	30	248											
ZNF518B	85460	hgsc.bcm.edu	37	4	10445169	10445169	+	Silent	SNP	A	A	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr4:10445169A>C	ENST00000326756.3	-	3	3222	c.2784T>G	c.(2782-2784)gcT>gcG	p.A928A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	928					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A928A(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GATCTGGCTTAGCTGCTATCA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	4											116	111	113					4																	10445169		2203	4300	6503	10054267	SO:0001819	synonymous_variant	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2784T>G	4.37:g.10445169A>C			10054267	Q96LN8	Silent	SNP	ENST00000326756.3	37	CCDS33960.1																																																																																				0.458	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		C	10445169	A	C	10445169	2	2	5	1	0	0	0	0	0	0	0	1	17963	407	15	5		5	ZNF518B	4	10445169	Silent	SNP	A	TCGA-04-1338-01A-01W-0484-10	8482404	10445169	180709107	31	249											
TMEM33	55161	hgsc.bcm.edu	37	4	41956173	41956173	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr4:41956173A>C	ENST00000504986.1	+	7	1066	c.701A>C	c.(700-702)cAg>cCg	p.Q234P	TMEM33_ENST00000325094.5_Missense_Mutation_p.Q234P|TMEM33_ENST00000513702.1_Missense_Mutation_p.Q234P	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	234						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)		p.Q234P(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTTTGTCTCCAGAGCATTGCC	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											151	143	146					4																	41956173		2203	4300	6503	41650930	SO:0001583	missense	55161			BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.701A>C	4.37:g.41956173A>C	ENSP00000422473:p.Gln234Pro		41650930	B3KSS8|Q9H953	Missense_Mutation	SNP	ENST00000504986.1	37	CCDS3464.1	.	.	.	.	.	.	.	.	.	.	A	9.836	1.189706	0.21954	.	.	ENSG00000109133	ENST00000504986;ENST00000513702;ENST00000325094	.	.	.	5.43	5.43	0.79202	.	0.360761	0.32328	N	0.006255	T	0.27629	0.0679	N	0.14661	0.345	0.34147	D	0.667096	B	0.14012	0.009	B	0.17979	0.02	T	0.30707	-0.9969	9	0.33940	T	0.23	-9.4065	5.8391	0.18623	0.7913:0.0:0.2087:0.0	.	234	P57088	TMM33_HUMAN	P	234	.	ENSP00000441455:Q234P	Q	+	2	0	TMEM33	41650930	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.351000	0.44071	2.068000	0.61886	0.383000	0.25322	CAG		0.368	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126		C	41956173	A	C	41956173	3	2	5	1	0	0	0	0	1	0	0	0	16156	188	7	5	727	5	TMEM33	4	41956173	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	31511004	41956173	149198103	32	250											
CNGA1	1259	hgsc.bcm.edu	37	4	47939097	47939097	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr4:47939097C>G	ENST00000514170.1	-	11	1733	c.1414G>C	c.(1414-1416)Gac>Cac	p.D472H	CNGA1_ENST00000420489.2_Missense_Mutation_p.D472H|CNGA1_ENST00000544810.1_Missense_Mutation_p.D472H|CNGA1_ENST00000358519.4_Missense_Mutation_p.D472H|CNGA1_ENST00000402813.3_Missense_Mutation_p.D541H			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	472					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.D472H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTAATGTGTCTAAGTGAACG	0.393																																																1	Substitution - Missense(1)	ovary(1)	4											184	172	176					4																	47939097		1902	4133	6035	47633854	SO:0001583	missense	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1414G>C	4.37:g.47939097C>G	ENSP00000426862:p.Asp472His		47633854	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035930	0.35893	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	5.22	5.22	0.72569	Cyclic nucleotide-binding-like (1);	0.045880	0.85682	D	0.000000	D	0.95695	0.8600	M	0.85710	2.77	0.53688	D	0.999973	P;P	0.39624	0.681;0.681	B;B	0.29353	0.101;0.101	D	0.96357	0.9263	10	0.72032	D	0.01	.	18.8003	0.92013	0.0:1.0:0.0:0.0	.	472;472	Q4W5E3;P29973	.;CNGA1_HUMAN	H	541;472;472;472;472	ENSP00000384264:D541H;ENSP00000426862:D472H;ENSP00000443401:D472H;ENSP00000351320:D472H;ENSP00000389881:D472H	ENSP00000351320:D472H	D	-	1	0	CNGA1	47633854	1.000000	0.71417	0.998000	0.56505	0.163000	0.22366	7.487000	0.81328	2.433000	0.82419	0.491000	0.48974	GAC		0.393	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		G	47939097	C	G	47939097	3	3	5	1	0	0	0	0	1	0	0	0	3596	913	32	3	662	3	CNGA1	4	47939097	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	5982924	47939097	143215179	33	251											
ALB	213	hgsc.bcm.edu	37	4	74279229	74279229	+	Silent	SNP	C	C	T	rs140421861		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr4:74279229C>T	ENST00000503124.1	+	6	693	c.486C>T	c.(484-486)caC>caT	p.H162H	ALB_ENST00000415165.2_Silent_p.H120H|ALB_ENST00000401494.3_Silent_p.H197H|ALB_ENST00000509063.1_Silent_p.H312H|ALB_ENST00000295897.4_Silent_p.H312H|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.H312H(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAAATCCCACTGCATTGCCG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	4						C		0,4406		0,0,2203	137	130	132		936	-2.6	0.7	4	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ALB	NM_000477.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		312/610	74279229	1,13005	2203	4300	6503	74498093	SO:0001819	synonymous_variant	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.486C>T	4.37:g.74279229C>T			74498093	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000503124.1	37																																																																																					0.413	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		T	74279229	C	T	74279229	2	4	5	1	0	0	0	0	0	0	0	1	486	564	20	2		2	ALB	4	74279229	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	26340132	74279229	116875047	34	252											
FSTL5	56884	hgsc.bcm.edu	37	4	162680656	162680656	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr4:162680656C>G	ENST00000306100.5	-	6	1070	c.634G>C	c.(634-636)Gat>Cat	p.D212H	FSTL5_ENST00000536695.1_Missense_Mutation_p.D211H|FSTL5_ENST00000427802.2_Missense_Mutation_p.D211H|FSTL5_ENST00000379164.4_Missense_Mutation_p.D211H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	212	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D212H(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAAAGAGATCCTTGCCAAGT	0.289																																																1	Substitution - Missense(1)	ovary(1)	4											87	95	92					4																	162680656		2203	4300	6503	162900106	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.634G>C	4.37:g.162680656C>G	ENSP00000305334:p.Asp212His		162900106	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892385	0.33442	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.37	4.53	0.55603	EF-hand-like domain (1);	0.186026	0.48767	D	0.000179	T	0.29288	0.0729	L	0.45051	1.395	0.44227	D	0.997069	D;P;P	0.54047	0.964;0.938;0.877	P;P;B	0.53035	0.541;0.716;0.436	T	0.01578	-1.1320	10	0.45353	T	0.12	.	13.1141	0.59289	0.0:0.9225:0.0:0.0774	.	211;211;212	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	H	212;211;211;211	ENSP00000305334:D212H;ENSP00000368462:D211H;ENSP00000389270:D211H;ENSP00000440409:D211H	ENSP00000305334:D212H	D	-	1	0	FSTL5	162900106	1.000000	0.71417	0.221000	0.23827	0.266000	0.26442	4.072000	0.57563	1.268000	0.44264	-0.245000	0.11935	GAT		0.289	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		G	162680656	C	G	162680656	3	3	5	1	0	0	0	0	1	0	0	0	6080	855	30	3	1953	3	FSTL5	4	162680656	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	88401427	162680656	28473620	35	253											
FAT1	2195	hgsc.bcm.edu	37	4	187525621	187525621	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr4:187525621C>G	ENST00000441802.2	-	18	10667	c.10458G>C	c.(10456-10458)gaG>gaC	p.E3486D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3486	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E3486D(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAAAAGCCTTCTCATCATTTC	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											1	Substitution - Missense(1)	ovary(1)	4											95	93	94					4																	187525621		1913	4121	6034	187762615	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10458G>C	4.37:g.187525621C>G	ENSP00000406229:p.Glu3486Asp		187762615		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	0.710	-0.787562	0.02884	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02552	4.25	5.42	-6.69	0.01772	Cadherin (4);Cadherin-like (1);	0.320590	0.37261	N	0.002180	T	0.01092	0.0036	N	0.12182	0.205	0.20764	N	0.999857	B	0.02656	0.0	B	0.06405	0.002	T	0.43686	-0.9376	10	0.09084	T	0.74	.	4.6317	0.12506	0.31:0.2834:0.3378:0.0688	.	3486	Q14517	FAT1_HUMAN	D	3486;3488	ENSP00000406229:E3486D	ENSP00000260147:E3488D	E	-	3	2	FAT1	187762615	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.293000	0.08320	-1.251000	0.02494	-1.097000	0.02148	GAG		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187525621	C	G	187525621	3	3	5	1	0	0	0	0	1	0	0	0	5689	912	32	3	3348	3	FAT1	4	187525621	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	24844965	187525621	3628655	36	254											
CDH18	1016	hgsc.bcm.edu	37	5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr5:19721516C>T	ENST00000507958.1	-	7	1573	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_ENST00000274170.4_Missense_Mutation_p.A195T|CDH18_ENST00000511273.1_Missense_Mutation_p.A195T|CDH18_ENST00000502796.1_Missense_Mutation_p.A195T|CDH18_ENST00000382275.1_Missense_Mutation_p.A195T|CDH18_ENST00000506372.1_Missense_Mutation_p.A195T			Q13634	CAD18_HUMAN	cadherin 18, type 2	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A195T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	5											153	136	142					5																	19721516		2203	4300	6503	19757273	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.583G>A	5.37:g.19721516C>T	ENSP00000425093:p.Ala195Thr		19757273	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694576	0.96793	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78863	-0.2036	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	195;195	B4DHG6;Q13634	.;CAD18_HUMAN	T	195;195;195;195;195;195;141;195	ENSP00000371710:A195T;ENSP00000425093:A195T;ENSP00000274170:A195T;ENSP00000424931:A195T;ENSP00000422138:A195T;ENSP00000427383:A141T;ENSP00000425854:A195T	.	A	-	1	0	CDH18	19757273	1.000000	0.71417	0.900000	0.35374	0.910000	0.53928	7.764000	0.85297	2.571000	0.86741	0.650000	0.86243	GCT		0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19721516	C	T	19721516	3	4	5	1	0	0	0	0	1	0	0	0	3103	768	27	1	1825	1	CDH18	5	19721516	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10		19721516	161193744	37	255											
SLC30A5	64924	hgsc.bcm.edu	37	5	68412417	68412417	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr5:68412417G>T	ENST00000396591.3	+	10	1879	c.1269G>T	c.(1267-1269)ttG>ttT	p.L423F	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	423					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.L423F(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTTACTTCTTGTGCTTGAATC	0.318																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)	5											48	50	49					5																	68412417		2203	4299	6502	68448173	SO:0001583	missense	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1269G>T	5.37:g.68412417G>T	ENSP00000379836:p.Leu423Phe		68448173	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049276	0.55218	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.68765	-0.35	5.76	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	L	0.60957	1.885	0.80722	D	1	P;D;P	0.63880	0.933;0.993;0.933	D;D;P	0.67103	0.928;0.949;0.888	T	0.78081	-0.2343	10	0.87932	D	0	.	11.1361	0.48375	0.0701:0.1284:0.8014:0.0	.	252;252;423	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	F	423;36	ENSP00000379836:L423F	ENSP00000379836:L423F	L	+	3	2	SLC30A5	68448173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.338000	0.33873	1.581000	0.49865	0.655000	0.94253	TTG		0.318	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			T	68412417	G	T	68412417	3	4	5	1	0	0	0	0	1	0	0	0	14561	1368	48	3	1395	3	SLC30A5	5	68412417	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	48690901	68412417	112502843	38	256											
APC	324	hgsc.bcm.edu	37	5	112175148	112175148	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr5:112175148A>G	ENST00000457016.1	+	16	4237	c.3857A>G	c.(3856-3858)gAa>gGa	p.E1286G	APC_ENST00000508376.2_Missense_Mutation_p.E1286G|APC_ENST00000257430.4_Missense_Mutation_p.E1286G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1286	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.I1287fs*1(1)|p.K1192fs*3(1)|p.?(1)|p.E1286G(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCTGAAGATGAAATAGGATGT	0.348		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	4	Deletion - Frameshift(2)|Substitution - Missense(1)|Unknown(1)	ovary(1)|large_intestine(1)|soft_tissue(1)|skin(1)	5											55	57	56					5																	112175148		2202	4300	6502	112203047	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3857A>G	5.37:g.112175148A>G	ENSP00000413133:p.Glu1286Gly		112203047	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861329	0.32884	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.91843	-2.64;-2.64;-2.64;-2.92	6.03	6.03	0.97812	.	0.179817	0.47455	D	0.000223	D	0.92883	0.7736	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64144	0.922;0.922	D	0.92115	0.5699	9	.	.	.	-25.935	16.2316	0.82347	1.0:0.0:0.0:0.0	.	1288;1286	Q4LE70;P25054	.;APC_HUMAN	G	1286	ENSP00000413133:E1286G;ENSP00000257430:E1286G;ENSP00000427089:E1286G;ENSP00000423828:E1286G	.	E	+	2	0	APC	112203047	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.472000	0.66768	2.308000	0.77769	0.533000	0.62120	GAA		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112175148	A	G	112175148	3	3	5	1	0	0	0	0	1	0	0	0	763	246	9	4	3915	4	APC	5	112175148	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	43762731	112175148	68740112	39	257											
SLC36A3	285641	hgsc.bcm.edu	37	5	150657103	150657103	+	Missense_Mutation	SNP	C	C	G	rs13155272		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr5:150657103C>G	ENST00000335230.3	-	10	1675	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E463Q	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	422						integral component of membrane (GO:0016021)		p.E422Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATGTCCTCAGAGTAAAAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	5											112	100	104					5																	150657103		2203	4300	6503	150637296	SO:0001583	missense	285641			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1264G>C	5.37:g.150657103C>G	ENSP00000334750:p.Glu422Gln		150637296	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642445	0.67244	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02682	4.2;4.2	4.69	4.69	0.59074	.	0.117279	0.56097	D	0.000024	T	0.11281	0.0275	M	0.64170	1.965	0.58432	D	0.999999	P;D;D	0.65815	0.877;0.967;0.995	P;P;P	0.62014	0.561;0.838;0.897	T	0.22068	-1.0227	10	0.24483	T	0.36	.	18.1858	0.89792	0.0:1.0:0.0:0.0	.	463;422;407	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	Q	422;463	ENSP00000334750:E422Q;ENSP00000366942:E463Q	ENSP00000334750:E422Q	E	-	1	0	SLC36A3	150637296	1.000000	0.71417	0.998000	0.56505	0.265000	0.26407	5.436000	0.66538	2.593000	0.87608	0.655000	0.94253	GAG		0.547	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		G	150657103	C	G	150657103	3	3	5	1	0	0	0	0	1	0	0	0	14598	835	29	3	152	3	SLC36A3	5	150657103	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	38481955	150657103	30258157	40	258											
LARP1	23367	hgsc.bcm.edu	37	5	154174736	154174736	+	Splice_Site	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr5:154174736G>A	ENST00000336314.4	+	8	1027	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	412					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.E412K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCACTTAGTGAATACTACTT	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											152	137	142					5																	154174736		2203	4300	6503	154154929	SO:0001630	splice_region_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1002-1G>A	5.37:g.154174736G>A			154154929	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	37	6.047118	0.97231	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	6.07	6.07	0.98685	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93294	0.6671	10	0.87932	D	0	-20.253	20.6439	0.99570	0.0:0.0:1.0:0.0	.	412;335	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	K	335;412;207;120;19	ENSP00000336721:E335K;ENSP00000428589:E412K;ENSP00000429904:E207K;ENSP00000430438:E120K;ENSP00000431072:E19K	ENSP00000336721:E335K	E	+	1	0	LARP1	154154929	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.787000	0.99055	2.884000	0.98904	0.655000	0.94253	GAA		0.458	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	Missense_Mutation	A	154174736	G	A	154174736	5	1	5	1	0	0	0	0	0	0	1	0	8628	1304	45	2	1033	2	LARP1	5	154174736	Splice_Site	SNP	G	TCGA-04-1338-01A-01W-0484-10	3517633	154174736	26740524	41	259											
UIMC1	51720	hgsc.bcm.edu	37	5	176395727	176395727	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr5:176395727A>C	ENST00000377227.4	-	6	1161	c.1029T>G	c.(1027-1029)agT>agG	p.S343R	UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000377219.2_Missense_Mutation_p.S343R|UIMC1_ENST00000511320.1_Missense_Mutation_p.S343R			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	343	AIR.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.S343R(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATTTTTCTCACTAGCCTGCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	5											145	138	140					5																	176395727		2203	4300	6503	176328333	SO:0001583	missense	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1029T>G	5.37:g.176395727A>C	ENSP00000366434:p.Ser343Arg		176328333	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655234	0.47467	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000377220	T;T;T	0.30981	1.51;1.51;1.51	5.47	4.25	0.50352	.	0.140479	0.51477	D	0.000093	T	0.43678	0.1258	L	0.54323	1.7	0.31433	N	0.672848	D;D	0.69078	0.984;0.997	P;D	0.65773	0.77;0.938	T	0.50874	-0.8776	10	0.66056	D	0.02	.	7.1101	0.25386	0.7735:0.0:0.0824:0.1441	.	343;265	Q96RL1;Q96RL1-3	UIMC1_HUMAN;.	R	343;343;343;265	ENSP00000366434:S343R;ENSP00000366425:S343R;ENSP00000421926:S343R	ENSP00000366425:S343R	S	-	3	2	UIMC1	176328333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.264000	0.33015	2.293000	0.77203	0.528000	0.53228	AGT		0.463	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		C	176395727	A	C	176395727	3	2	5	1	0	0	0	0	1	0	0	0	16971	156	6	5	1170	5	UIMC1	5	176395727	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	22220991	176395727	4519533	42	260											
TBC1D7	51256	hgsc.bcm.edu	37	6	13321193	13321193	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:13321193G>A	ENST00000379300.3	-	4	571	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	TBC1D7_ENST00000607658.1_Missense_Mutation_p.R83C|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R110C|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R110C|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R83C	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	110	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.R110C(2)|p.R110S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TGATACATGCGGAGATAGACT	0.488																																																3	Substitution - Missense(3)	ovary(1)|lung(1)|large_intestine(1)	6											254	219	231					6																	13321193		2203	4300	6503	13429172	SO:0001583	missense	51256			AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.328C>T	6.37:g.13321193G>A	ENSP00000368602:p.Arg110Cys		13429172	E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122642	0.77436	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	2.15;2.15;2.15;1.41;1.44;1.41;1.41;2.15;1.45;1.45;2.15;2.15;0.84	5.85	4.94	0.65067	Rab-GAP/TBC domain (1);	0.185905	0.64402	D	0.000012	T	0.56262	0.1973	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.992;0.983;0.99;0.992;1.0	P;P;P;P;D	0.73380	0.785;0.707;0.53;0.785;0.98	T	0.62737	-0.6791	10	0.59425	D	0.04	-3.4931	10.0087	0.41972	0.1598:0.0:0.8402:0.0	.	110;83;83;83;110	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	C	51;110;110;110;83;110;83;83;110;83;83;110;110;110	ENSP00000401438:R110C;ENSP00000348813:R110C;ENSP00000368602:R110C;ENSP00000368609:R83C;ENSP00000343100:R110C;ENSP00000414292:R83C;ENSP00000404680:R83C;ENSP00000394425:R110C;ENSP00000417005:R83C;ENSP00000412102:R83C;ENSP00000414101:R110C;ENSP00000401339:R110C;ENSP00000368593:R110C	ENSP00000334212:R51C	R	-	1	0	TBC1D7	13429172	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	5.390000	0.66261	1.385000	0.46445	0.555000	0.69702	CGC		0.488	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		A	13321193	G	A	13321193	3	1	5	1	0	0	0	0	1	0	0	0	15624	1116	39	1	573	1	TBC1D7	6	13321193	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10		13321193	157793874	43	261											
PSORS1C1	170679	hgsc.bcm.edu	37	6	31106233	31106233	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:31106233C>G	ENST00000259881.9	+	4	329	c.40C>G	c.(40-42)Ctc>Gtc	p.L14V	PSORS1C1_ENST00000547221.1_5'UTR|PSORS1C1_ENST00000481450.2_5'UTR|PSORS1C2_ENST00000259845.4_Intron	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	14								p.L14V(1)		kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TCAAAGAGCTCTCGGTAGGTT	0.517																																																1	Substitution - Missense(1)	ovary(1)	6											79	80	80					6																	31106233		1511	2709	4220	31214212	SO:0001583	missense	170679			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.40C>G	6.37:g.31106233C>G	ENSP00000259881:p.Leu14Val		31214212	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557299	0.27827	.	.	ENSG00000204540	ENST00000259881	T	0.15256	2.44	3.07	3.07	0.35406	.	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.28164	N	0.928838	D	0.60575	0.988	D	0.68621	0.959	T	0.16867	-1.0388	9	0.87932	D	0	.	9.822	0.40887	0.0:1.0:0.0:0.0	.	14	Q9UIG5	PS1C1_HUMAN	V	14	ENSP00000259881:L14V	ENSP00000259881:L14V	L	+	1	0	PSORS1C1	31214212	0.005000	0.15991	0.015000	0.15790	0.124000	0.20399	0.290000	0.18975	2.037000	0.60232	0.478000	0.44815	CTC		0.517	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		G	31106233	C	G	31106233	3	3	5	1	0	0	0	0	1	0	0	0	12717	913	32	3	46	3	PSORS1C1	6	31106233	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	17785040	31106233	140008834	44	262											
VPS52	6293	hgsc.bcm.edu	37	6	33219350	33219350	+	Missense_Mutation	SNP	C	C	T	rs537285931		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:33219350C>T	ENST00000445902.2	-	19	2188	c.1970G>A	c.(1969-1971)aGt>aAt	p.S657N	VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000442228.1_RNA|VPS52_ENST00000436044.2_Missense_Mutation_p.S532N|HCG25_ENST00000422366.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	657					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.S657N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TACATCCTGACTCAGAGATTC	0.498													C|||	1	0.000199681	0	0	5008	,	,		19072	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	6											154	140	145					6																	33219350		2203	4300	6503	33327328	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1970G>A	6.37:g.33219350C>T	ENSP00000409952:p.Ser657Asn		33327328	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625703	0.46840	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.26	4.26	0.50523	.	0.041393	0.85682	D	0.000000	T	0.17874	0.0429	N	0.03194	-0.395	0.80722	D	1	B;B	0.15719	0.014;0.0	B;B	0.11329	0.006;0.0	T	0.07424	-1.0773	9	0.15952	T	0.53	-11.8324	14.9869	0.71356	0.0:1.0:0.0:0.0	.	468;657	B3KMF7;Q8N1B4	.;VPS52_HUMAN	N	657;635;532	.	ENSP00000414785:S635N	S	-	2	0	VPS52	33327328	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.111000	0.71541	2.669000	0.90835	0.551000	0.68910	AGT		0.498	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		T	33219350	C	T	33219350	3	4	5	1	0	0	0	0	1	0	0	0	17214	565	20	2	209	2	VPS52	6	33219350	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	2113117	33219350	137895717	45	263											
SCUBE3	222663	hgsc.bcm.edu	37	6	35207534	35207534	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:35207534G>C	ENST00000274938.7	+	8	835	c.835G>C	c.(835-837)Gat>Cat	p.D279H	SCUBE3_ENST00000394681.1_Missense_Mutation_p.D295H	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.D279H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TTCAGATATAGATGAGTGCCG	0.448																																																1	Substitution - Missense(1)	ovary(1)	6											113	115	114					6																	35207534		2203	4300	6503	35315512	SO:0001583	missense	222663			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.835G>C	6.37:g.35207534G>C	ENSP00000274938:p.Asp279His		35315512		Missense_Mutation	SNP	ENST00000274938.7	37	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138921	0.94560	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.35973	1.28;1.28	5.66	5.66	0.87406	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84729	0.0744	10	0.87932	D	0	.	19.7503	0.96265	0.0:0.0:1.0:0.0	.	295;279	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	H	295;279	ENSP00000378174:D295H;ENSP00000274938:D279H	ENSP00000274938:D279H	D	+	1	0	SCUBE3	35315512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.648000	0.89879	0.655000	0.94253	GAT		0.448	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		C	35207534	G	C	35207534	3	2	5	1	0	0	0	0	1	0	0	0	13949	942	33	3	865	3	SCUBE3	6	35207534	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	1988184	35207534	135907533	46	264											
C6orf81	221481	hgsc.bcm.edu	37	6	35716375	35716375	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:35716375G>T	ENST00000373866.3	+	6	773	c.751G>T	c.(751-753)Gta>Tta	p.V251L	ARMC12_ENST00000373869.3_Missense_Mutation_p.V241L|ARMC12_ENST00000288065.2_Missense_Mutation_p.V278L			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	251						nucleus (GO:0005634)		p.V278L(1)									CCTGTATGAGGTACTGGTGTT	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											93	86	89					6																	35716375		2203	4300	6503	35824353	SO:0001583	missense	221481			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"Armadillo repeat containing"	21099	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 81"	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.751G>T	6.37:g.35716375G>T	ENSP00000362973:p.Val251Leu		35824353	Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37		.	.	.	.	.	.	.	.	.	.	G	8.490	0.861808	0.17178	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.30714	1.52;1.52;1.52	5.0	3.22	0.36961	.	0.404164	0.20852	N	0.084501	T	0.05364	0.0142	N	0.17082	0.46	0.24328	N	0.995014	B;B	0.09022	0.001;0.002	B;B	0.13407	0.009;0.003	T	0.36841	-0.9731	10	0.27785	T	0.31	.	4.7944	0.13265	0.1816:0.0:0.6484:0.17	.	241;278	Q5T9G4-3;Q5T9G4-2	.;.	L	241;278;251	ENSP00000362976:V241L;ENSP00000288065:V278L;ENSP00000362973:V251L	ENSP00000288065:V278L	V	+	1	0	C6orf81	35824353	0.756000	0.28383	0.123000	0.21794	0.589000	0.36550	0.322000	0.19576	0.530000	0.28619	-0.145000	0.13849	GTA		0.512	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		T	35716375	G	T	35716375	3	4	5	1	0	0	0	0	1	0	0	0	2372	1261	44	3	854	3	C6orf81	6	35716375	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	508841	35716375	135398692	47	265											
IBTK	25998	hgsc.bcm.edu	37	6	82921274	82921274	+	Missense_Mutation	SNP	G	G	C	rs184558709		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:82921274G>C	ENST00000306270.7	-	14	2856	c.2307C>G	c.(2305-2307)gaC>gaG	p.D769E	IBTK_ENST00000510291.1_Missense_Mutation_p.D769E|RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000503631.1_Missense_Mutation_p.D568E	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	769	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.D769E(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCATGGTCACGTCACACAGAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	6											72	68	70					6																	82921274		2203	4300	6503	82977993	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2307C>G	6.37:g.82921274G>C	ENSP00000305721:p.Asp769Glu		82977993	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604145	0.66445	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	D;D;D	0.91237	-2.81;-2.81;-2.81	5.74	4.51	0.55191	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96109	0.8732	H	0.97874	4.095	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95922	0.8931	10	0.87932	D	0	-23.0271	8.8585	0.35242	0.8547:0.0:0.1453:0.0	.	568;769;769;769	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	E	769;568;769	ENSP00000305721:D769E;ENSP00000422762:D568E;ENSP00000426405:D769E	ENSP00000305721:D769E	D	-	3	2	IBTK	82977993	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.545000	0.53648	0.995000	0.38917	-0.438000	0.05819	GAC		0.333	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		C	82921274	G	C	82921274	3	2	5	1	0	0	0	0	1	0	0	0	7476	1136	40	3	1818	3	IBTK	6	82921274	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	47204899	82921274	88193793	48	266											
NT5E	4907	hgsc.bcm.edu	37	6	86200329	86200329	+	Silent	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:86200329C>T	ENST00000257770.3	+	7	1363	c.1314C>T	c.(1312-1314)agC>agT	p.S438S	NT5E_ENST00000369651.3_Intron	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	438					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S438S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TTGAGCATAGCGTGCACCGCT	0.547																																					Melanoma(140;797 1765 2035 2752 18208)											1	Substitution - coding silent(1)	ovary(1)	6											106	96	99					6																	86200329		2203	4300	6503	86257048	SO:0001819	synonymous_variant	4907			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1314C>T	6.37:g.86200329C>T			86257048	B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	6.571	0.473662	0.12521	.	.	ENSG00000135318	ENST00000437581	.	.	.	5.93	-10.0	0.00425	.	.	.	.	.	T	0.53270	0.1786	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72124	-0.4385	4	.	.	.	-19.3006	19.9911	0.97363	0.0:0.5901:0.0:0.4099	.	.	.	.	V	134	.	.	A	+	2	0	NT5E	86257048	0.000000	0.05858	0.485000	0.27403	0.712000	0.41017	-4.104000	0.00294	-1.874000	0.01133	-0.140000	0.14226	GCG		0.547	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			T	86200329	C	T	86200329	2	4	5	1	0	0	0	0	0	0	0	1	10693	767	27	1		1	NT5E	6	86200329	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	3279055	86200329	84914738	49	267											
MAP3K7	6885	hgsc.bcm.edu	37	6	91281513	91281513	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:91281513C>A	ENST00000369329.3	-	2	295	c.134G>T	c.(133-135)gGa>gTa	p.G45V	MAP3K7_ENST00000369325.3_Missense_Mutation_p.G45V|MAP3K7_ENST00000369327.3_Missense_Mutation_p.G45V|MAP3K7_ENST00000369332.3_Missense_Mutation_p.G45V	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	45	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.G45V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCCAAAGGCTCCTCTTCCAAC	0.343																																																1	Substitution - Missense(1)	ovary(1)	6											97	93	95					6																	91281513		2203	4299	6502	91338234	SO:0001583	missense	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.134G>T	6.37:g.91281513C>A	ENSP00000358335:p.Gly45Val		91338234	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688104	0.88639	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044917	0.85682	D	0.000000	D	0.96442	0.8839	H	0.99634	4.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98312	1.0524	10	0.87932	D	0	.	19.5591	0.95366	0.0:1.0:0.0:0.0	.	45;45;45;45	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	V	45	ENSP00000358338:G45V;ENSP00000358335:G45V;ENSP00000358331:G45V;ENSP00000358333:G45V	ENSP00000358331:G45V	G	-	2	0	MAP3K7	91338234	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.574000	0.82434	2.626000	0.88956	0.557000	0.71058	GGA		0.343	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		A	91281513	C	A	91281513	3	1	5	1	0	0	0	0	1	0	0	0	9255	855	30	3	1750	3	MAP3K7	6	91281513	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	5081184	91281513	79833554	50	268											
POPDC3	64208	hgsc.bcm.edu	37	6	105609554	105609554	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:105609554T>C	ENST00000254765.3	-	2	509	c.231A>G	c.(229-231)atA>atG	p.I77M	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	77					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.I77M(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TCCAGGAAAATATGTCAGCTG	0.443																																																1	Substitution - Missense(1)	ovary(1)	6											126	139	135					6																	105609554		2203	4300	6503	105716247	SO:0001583	missense	64208			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.231A>G	6.37:g.105609554T>C	ENSP00000254765:p.Ile77Met		105716247	B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815546	0.32145	.	.	ENSG00000132429	ENST00000254765	T	0.46063	0.88	5.72	-1.77	0.07982	.	0.218136	0.49305	N	0.000142	T	0.15349	0.0370	L	0.59436	1.845	0.38795	D	0.95507	B	0.06786	0.001	B	0.04013	0.001	T	0.04796	-1.0926	10	0.46703	T	0.11	-9.4158	3.8618	0.08999	0.1117:0.1299:0.4606:0.2978	.	77	Q9HBV1	POPD3_HUMAN	M	77	ENSP00000254765:I77M	ENSP00000254765:I77M	I	-	3	3	POPDC3	105716247	0.199000	0.23386	0.997000	0.53966	0.983000	0.72400	-0.516000	0.06282	-0.168000	0.10853	-0.316000	0.08728	ATA		0.443	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		C	105609554	T	C	105609554	3	2	5	1	0	0	0	0	1	0	0	0	12256	1396	49	4	656	4	POPDC3	6	105609554	Missense_Mutation	SNP	T	TCGA-04-1338-01A-01W-0484-10	14328041	105609554	65505513	51	269											
SYNE1	23345	hgsc.bcm.edu	37	6	152639315	152639315	+	Silent	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr6:152639315G>T	ENST00000367255.5	-	86	17074	c.16473C>A	c.(16471-16473)ggC>ggA	p.G5491G	SYNE1_ENST00000423061.1_Silent_p.G5420G|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.G5491G|SYNE1_ENST00000356820.4_Silent_p.G15G|SYNE1_ENST00000448038.1_Silent_p.G5420G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5491					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G5491G(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TACCCAGTTGGCCATTCTGTT	0.448										HNSCC(10;0.0054)																																						2	Substitution - coding silent(2)	ovary(2)	6											202	176	185					6																	152639315		2203	4300	6503	152681008	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16473C>A	6.37:g.152639315G>T			152681008	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152639315	G	T	152639315	2	4	5	1	0	0	0	0	0	0	0	1	15445	1190	42	3		3	SYNE1	6	152639315	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10	47029761	152639315	18475752	52	270											
SOSTDC1	25928	hgsc.bcm.edu	37	7	16502439	16502439	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr7:16502439C>T	ENST00000307068.4	-	2	535	c.355G>A	c.(355-357)Gga>Aga	p.G119R	SOSTDC1_ENST00000396652.1_Missense_Mutation_p.G143R	NM_015464.2	NP_056279.1	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	119	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				hair follicle morphogenesis (GO:0031069)|mammary gland bud morphogenesis (GO:0060648)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell fate commitment (GO:0010454)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.G119R(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TACTTTGTTCCATAGCCTCCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											97	90	92					7																	16502439		2203	4300	6503	16468964	SO:0001583	missense	25928			AB059270	CCDS5360.1	7p21.2	2007-08-01			ENSG00000171243	ENSG00000171243			21748	protein-coding gene	gene with protein product	"ectodin"	609675					Standard	NM_015464		Approved	DKFZp564D206, USAG1	uc003stg.3	Q6X4U4	OTTHUMG00000090807	ENST00000307068.4:c.355G>A	7.37:g.16502439C>T	ENSP00000304930:p.Gly119Arg		16468964	A8MUA6|Q96HJ7|Q9Y3U3	Missense_Mutation	SNP	ENST00000307068.4	37	CCDS5360.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810873	0.70797	.	.	ENSG00000171243	ENST00000307068;ENST00000396652	T;T	0.63744	-0.06;-0.06	5.71	5.71	0.89125	Cystine knot, C-terminal (1);	0.105462	0.64402	D	0.000006	T	0.77658	0.4163	L	0.57536	1.79	0.58432	D	0.999997	D;P	0.76494	0.999;0.8	D;P	0.75020	0.985;0.525	T	0.77970	-0.2387	10	0.66056	D	0.02	-11.0461	19.8677	0.96824	0.0:1.0:0.0:0.0	.	143;119	A8MUA6;Q6X4U4	.;SOSD1_HUMAN	R	119;143	ENSP00000304930:G119R;ENSP00000379889:G143R	ENSP00000304930:G119R	G	-	1	0	SOSTDC1	16468964	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.770000	0.68873	2.709000	0.92574	0.655000	0.94253	GGA		0.582	SOSTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207603.1	NM_015464		T	16502439	C	T	16502439	3	4	5	1	0	0	0	0	1	0	0	0	14942	603	21	2	269	2	SOSTDC1	7	16502439	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10		16502439	142636224	53	271											
SEMA3A	10371	hgsc.bcm.edu	37	7	83640541	83640541	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr7:83640541C>A	ENST00000265362.4	-	8	1197	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	SEMA3A_ENST00000436949.1_Missense_Mutation_p.V295L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	295	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.V295L(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGACCTGGCACTGAGCAAATC	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											134	123	126					7																	83640541		2203	4300	6503	83478477	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.883G>T	7.37:g.83640541C>A	ENSP00000265362:p.Val295Leu		83478477		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331379	0.95733	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.23147	1.92;1.92	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	L	0.45285	1.41	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.15607	-1.0431	10	0.59425	D	0.04	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	295	Q14563	SEM3A_HUMAN	L	295	ENSP00000265362:V295L;ENSP00000415260:V295L	ENSP00000265362:V295L	V	-	1	0	SEMA3A	83478477	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GTG		0.413	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		A	83640541	C	A	83640541	3	1	5	1	0	0	0	0	1	0	0	0	14027	565	20	3	1472	3	SEMA3A	7	83640541	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	67138102	83640541	75498122	54	272											
PON3	5446	hgsc.bcm.edu	37	7	94993257	94993257	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr7:94993257G>C	ENST00000265627.5	-	6	623	c.613C>G	c.(613-615)Ctt>Gtt	p.L205V	PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Missense_Mutation_p.L205V|PON3_ENST00000427422.1_Missense_Mutation_p.L205V	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	205					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.L205F(1)|p.L205V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTGTAGAAAAGAACATAAGTC	0.443																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	7											183	187	186					7																	94993257		2203	4300	6503	94831193	SO:0001583	missense	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.613C>G	7.37:g.94993257G>C	ENSP00000265627:p.Leu205Val		94831193	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	G	2.216	-0.379588	0.05000	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.35789	1.29;1.29	5.27	-3.24	0.05094	Six-bladed beta-propeller, TolB-like (1);	0.387835	0.28442	N	0.015332	T	0.09423	0.0232	N	0.02658	-0.545	0.09310	N	1	B;B	0.17465	0.022;0.001	B;B	0.12837	0.008;0.002	T	0.37549	-0.9701	10	0.02654	T	1	-2.1494	7.7473	0.28877	0.0707:0.5718:0.1756:0.1819	.	253;205	B4E2I0;Q15166	.;PON3_HUMAN	V	205	ENSP00000265627:L205V;ENSP00000413276:L205V	ENSP00000265627:L205V	L	-	1	0	PON3	94831193	0.982000	0.34865	0.001000	0.08648	0.263000	0.26337	0.808000	0.27154	-0.217000	0.10033	0.655000	0.94253	CTT		0.443	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		C	94993257	G	C	94993257	3	2	5	1	0	0	0	0	1	0	0	0	12250	942	33	3	467	3	PON3	7	94993257	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	11352716	94993257	64145406	55	273											
MLL3	58508	hgsc.bcm.edu	37	7	151873627	151873627	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr7:151873627A>C	ENST00000262189.6	-	38	9129	c.8911T>G	c.(8911-8913)Tct>Gct	p.S2971A	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2971A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2971					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S2971A(1)									GTCACATTAGAATTCATGGCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	7											45	46	45					7																	151873627		2203	4300	6503	151504560	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8911T>G	7.37:g.151873627A>C	ENSP00000262189:p.Ser2971Ala		151504560	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.36|12.36	1.913378|1.913378	0.33815|0.33815	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.83755	.|-1.76;-1.75	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.46145	.|D	.|0.000304	T|T	0.72574|0.72574	0.3477|0.3477	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.38195	.|0.622;0.571;0.571	.|B;B;B	.|0.33960	.|0.152;0.173;0.173	T|T	0.72824|0.72824	-0.4176|-0.4176	5|10	.|0.37606	.|T	.|0.19	.|.	10.8714|10.8714	0.46885|0.46885	0.9269:0.0:0.0731:0.0|0.9269:0.0:0.0731:0.0	.|.	.|2971;2032;2971	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	C|A	476|2971	.|ENSP00000262189:S2971A;ENSP00000347325:S2971A	.|ENSP00000262189:S2971A	F|S	-|-	2|1	0|0	MLL3|MLL3	151504560|151504560	1.000000|1.000000	0.71417|0.71417	0.505000|0.505000	0.27651|0.27651	0.929000|0.929000	0.56500|0.56500	1.910000|1.910000	0.39927|0.39927	2.115000|2.115000	0.64714|0.64714	0.533000|0.533000	0.62120|0.62120	TTC|TCT		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151873627	A	C	151873627	3	2	5	1	0	0	0	0	1	0	0	0	9622	246	9	5	5912	5	MLL3	7	151873627	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	56880370	151873627	7265036	56	274											
CLU	1191	hgsc.bcm.edu	37	8	27462569	27462569	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr8:27462569G>A	ENST00000316403.10	-	5	1106	c.701C>T	c.(700-702)cCg>cTg	p.P234L	CLU_ENST00000523500.1_Missense_Mutation_p.P234L|CLU_ENST00000546343.1_Missense_Mutation_p.P245L|CLU_ENST00000560366.1_Missense_Mutation_p.P286L|CLU_ENST00000405140.3_Missense_Mutation_p.P234L			P10909	CLUS_HUMAN	clusterin	234					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.P286L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGGCTCGTACGGAGAGAAGGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	8											117	112	114					8																	27462569		2203	4300	6503	27518486	SO:0001583	missense	1191			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.701C>T	8.37:g.27462569G>A	ENSP00000315130:p.Pro234Leu		27518486	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	G	2.750	-0.260285	0.05791	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012;ENST00000523589	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.66	-3.72	0.04411	Clusterin, C-terminal (1);	2.240620	0.01623	N	0.023112	T	0.08044	0.0201	N	0.05510	-0.035	0.09310	N	1	B;B;B;B	0.15473	0.013;0.002;0.002;0.001	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.15867	-1.0422	10	0.08599	T	0.76	-0.057	1.7188	0.02907	0.3672:0.1304:0.3645:0.138	.	99;286;245;234	E7ETA7;P10909-2;P10909-5;P10909	.;.;.;CLUS_HUMAN	L	286;245;234;234;59;99;200	ENSP00000446413:P245L;ENSP00000385419:P234L;ENSP00000429620:P234L;ENSP00000431070:P200L	ENSP00000315130:P286L	P	-	2	0	CLU	27518486	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-0.623000	0.05618	0.563000	0.77884	CCG		0.592	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		A	27462569	G	A	27462569	3	1	5	1	0	0	0	0	1	0	0	0	3568	1116	39	1	668	1	CLU	8	27462569	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10		27462569	118901453	57	275											
PURG	29942	hgsc.bcm.edu	37	8	30889499	30889500	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr8:30889499_30889500delAA	ENST00000475541.1	-	1	1731_1732	c.799_800delTT	c.(799-801)ttcfs	p.F267fs	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Frame_Shift_Del_p.F267fs	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	267						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.F267fs*5(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GTCCACTCTGAAAGAAGTCCCC	0.441																																																2	Deletion - Frameshift(2)	ovary(2)	8																																								31009042	SO:0001589	frameshift_variant	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.799_800delTT	8.37:g.30889499_30889500delAA	ENSP00000418721:p.Phe267fs		31009041	Q8TE64	Frame_Shift_Del	DEL	ENST00000475541.1	37	CCDS6081.1																																																																																				0.441	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		-	30889500	AA	-	30889499	7	5	5	1	0	1	0	1	0	0	0	0	12832	246	9	0	356	0	PURG	8	30889499	Frame_Shift_Del	DEL	AA	TCGA-04-1338-01A-01W-0484-10	3426930	30889499	115474523	58	276											
PXDNL	137902	hgsc.bcm.edu	37	8	52336197	52336197	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr8:52336197T>C	ENST00000356297.4	-	14	1833	c.1733A>G	c.(1732-1734)tAt>tGt	p.Y578C	PXDNL_ENST00000543296.1_Missense_Mutation_p.Y578C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	578	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Y578C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACACATTCATATCTTCCCTG	0.468																																																1	Substitution - Missense(1)	ovary(1)	8											111	121	118					8																	52336197		2142	4257	6399	52498750	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1733A>G	8.37:g.52336197T>C	ENSP00000348645:p.Tyr578Cys		52498750	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260626	0.23051	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.93366	-3.21;-3.21	4.59	0.628	0.17681	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97179	0.9078	H	0.99425	4.56	0.09310	N	1	D	0.53151	0.958	P	0.57244	0.816	D	0.90663	0.4592	9	0.66056	D	0.02	.	4.3228	0.11025	0.0:0.1703:0.1707:0.6589	.	578	A1KZ92	PXDNL_HUMAN	C	578	ENSP00000348645:Y578C;ENSP00000444865:Y578C	ENSP00000348645:Y578C	Y	-	2	0	PXDNL	52498750	0.972000	0.33761	0.000000	0.03702	0.002000	0.02628	2.522000	0.45572	-0.076000	0.12775	0.528000	0.53228	TAT		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		C	52336197	T	C	52336197	3	2	5	1	0	0	0	0	1	0	0	0	12851	1406	49	4	2698	4	PXDNL	8	52336197	Missense_Mutation	SNP	T	TCGA-04-1338-01A-01W-0484-10	21446698	52336197	94027825	59	277											
FAM82B	51115	hgsc.bcm.edu	37	8	87498713	87498713	+	Splice_Site	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr8:87498713C>T	ENST00000406452.3	-	4	654	c.495G>A	c.(493-495)aaG>aaA	p.K165K	RMDN1_ENST00000523911.1_Splice_Site_p.K121K|RMDN1_ENST00000430676.2_Splice_Site_p.K165K|RMDN1_ENST00000519966.1_Splice_Site_p.K165K|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	165						microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.K165K(1)									AGCAACTCACCTTATGAGATG	0.333																																																1	Substitution - coding silent(1)	ovary(1)	8											120	103	109					8																	87498713		2203	4300	6503	87567829	SO:0001630	splice_region_variant	51115			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.495+1G>A	8.37:g.87498713C>T			87567829	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	ENST00000406452.3	37	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.22|14.22	2.469987|2.469987	0.43839|0.43839	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000519639|ENST00000519789	.|.	.|.	.|.	5.88|5.88	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	T|T	0.71117|0.71117	0.3302|0.3302	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70557|0.70557	-0.4839|-0.4839	4|4	.|.	.|.	.|.	-15.1964|-15.1964	15.3063|15.3063	0.73995|0.73995	0.0:0.9329:0.0:0.0671|0.0:0.9329:0.0:0.0671	.|.	.|.	.|.	.|.	N|M	11|111	.|.	.|.	S|V	-|-	2|1	0|0	FAM82B|FAM82B	87567829|87567829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	2.623000|2.623000	0.46435|0.46435	1.492000|1.492000	0.48499|0.48499	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.333	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033	Silent	T	87498713	C	T	87498713	5	4	5	1	0	0	0	0	0	0	1	0	5632	695	24	2	477	2	FAM82B	8	87498713	Splice_Site	SNP	C	TCGA-04-1338-01A-01W-0484-10	35162516	87498713	58865309	60	278											
MTERFD1	51001	hgsc.bcm.edu	37	8	97251801	97251801	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr8:97251801A>G	ENST00000287025.3	-	8	1270	c.1172T>C	c.(1171-1173)gTa>gCa	p.V391A	MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000524341.1_Missense_Mutation_p.V147A|MTERFD1_ENST00000522822.1_Missense_Mutation_p.V270A|KB-1043D8.6_ENST00000520575.1_RNA	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		391					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.V391A(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AGGAATAGATACTAGTTTGTC	0.328																																																1	Substitution - Missense(1)	ovary(1)	8											78	81	80					8																	97251801		2203	4297	6500	97320977	SO:0001583	missense	51001																														ENST00000287025.3:c.1172T>C	8.37:g.97251801A>G	ENSP00000287025:p.Val391Ala		97320977	B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497420	0.85069	.	.	ENSG00000156469	ENST00000522822;ENST00000524341;ENST00000287025	T;T;T	0.51071	1.27;0.72;1.08	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.71296	2.17	0.80722	D	1	P	0.38167	0.621	P	0.50825	0.651	T	0.63804	-0.6554	10	0.56958	D	0.05	-4.0601	15.1469	0.72662	1.0:0.0:0.0:0.0	.	391	Q96E29	MTER1_HUMAN	A	270;147;391	ENSP00000430138:V270A;ENSP00000429267:V147A;ENSP00000287025:V391A	ENSP00000287025:V391A	V	-	2	0	MTERFD1	97320977	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.221000	0.58574	2.371000	0.80710	0.533000	0.62120	GTA		0.328	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			G	97251801	A	G	97251801	3	3	5	1	0	0	0	0	1	0	0	0	9919	391	14	4	85	4	MTERFD1	8	97251801	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	9753088	97251801	49112221	61	279											
SAMD12	401474	hgsc.bcm.edu	37	8	119391906	119391906	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr8:119391906A>C	ENST00000314727.4	-	4	492	c.356T>G	c.(355-357)cTc>cGc	p.L119R	SAMD12_ENST00000527515.1_5'Flank|AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Missense_Mutation_p.L119R	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	119	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.L119R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CATTCGCTCGAGCTTTTTGTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	8											113	103	107					8																	119391906		2203	4300	6503	119461087	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.356T>G	8.37:g.119391906A>C	ENSP00000314173:p.Leu119Arg		119461087	Q0P502	Missense_Mutation	SNP	ENST00000314727.4	37	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.7|27.7	4.851985|4.851985	0.91355|0.91355	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328|ENST00000526765	D;D;D;D|.	0.96041|.	-3.89;-3.89;-3.89;-3.89|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.85362|0.85362	0.5679|0.5679	M|M	0.91561|0.91561	3.22|3.22	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|D	0.88334|0.88334	0.2970|0.2970	9|5	.|.	.|.	.|.	-9.4277|-9.4277	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	119;119|.	B8ZZB7;Q8N8I0|.	.;SAM12_HUMAN|.	R|A	119;111;119;119|134	ENSP00000387133:L119R;ENSP00000435927:L111R;ENSP00000314173:L119R;ENSP00000431360:L119R|.	.|.	L|S	-|-	2|1	0|0	SAMD12|SAMD12	119461087|119461087	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.881000|0.881000	0.50899|0.50899	8.962000|8.962000	0.93254|0.93254	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTC|TCG		0.468	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		C	119391906	A	C	119391906	3	2	5	1	0	0	0	0	1	0	0	0	13820	304	11	5	280	5	SAMD12	8	119391906	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	22140105	119391906	26972116	62	280											
C8orf76	84933	hgsc.bcm.edu	37	8	124232410	124232410	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr8:124232410C>A	ENST00000276704.4	-	6	1127	c.1076G>T	c.(1075-1077)aGa>aTa	p.R359I		NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	359								p.R359I(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTGATCTTTCTGAACCACTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	8											106	97	100					8																	124232410		2203	4300	6503	124301591	SO:0001583	missense	84933			AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.1076G>T	8.37:g.124232410C>A	ENSP00000276704:p.Arg359Ile		124301591	Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484294	0.63962	.	.	ENSG00000189376	ENST00000276704	.	.	.	6.02	2.89	0.33648	.	0.879500	0.10394	N	0.680090	T	0.46268	0.1384	M	0.63428	1.95	0.25383	N	0.988593	P	0.40875	0.731	P	0.45071	0.468	T	0.34900	-0.9810	9	0.66056	D	0.02	-5.7682	7.9835	0.30198	0.0:0.6186:0.0:0.3814	.	359	Q96K31	CH076_HUMAN	I	359	.	ENSP00000276704:R359I	R	-	2	0	C8orf76	124301591	0.000000	0.05858	0.218000	0.23776	0.993000	0.82548	-0.146000	0.10250	0.381000	0.24851	0.655000	0.94253	AGA		0.393	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		A	124232410	C	A	124232410	3	1	5	1	0	0	0	0	1	0	0	0	2437	913	32	3	70	3	C8orf76	8	124232410	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	4840504	124232410	22131612	63	281											
NFX1	4799	hgsc.bcm.edu	37	9	33313762	33313762	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr9:33313762G>A	ENST00000379540.3	+	7	1621	c.1559G>A	c.(1558-1560)tGc>tAc	p.C520Y	NFX1_ENST00000318524.6_Missense_Mutation_p.C520Y|NFX1_ENST00000379521.4_Missense_Mutation_p.C520Y	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	520					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C520Y(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GGGGGTCAGTGCCAGCCTTGC	0.488																																																1	Substitution - Missense(1)	ovary(1)	9											99	91	93					9																	33313762		2203	4300	6503	33303762	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1559G>A	9.37:g.33313762G>A	ENSP00000368856:p.Cys520Tyr		33303762	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583420	0.46006	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	D;D;D	0.82255	-1.59;-1.59;-1.59	5.51	5.51	0.81932	Zinc finger, NF-X1-type (2);	0.000000	0.85682	D	0.000000	D	0.93838	0.8029	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999	D	0.95330	0.8429	10	0.87932	D	0	-2.9278	14.9589	0.71141	0.0:0.0:1.0:0.0	.	520;404;520;520;520	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	Y	520	ENSP00000368856:C520Y;ENSP00000368836:C520Y;ENSP00000317695:C520Y	ENSP00000317695:C520Y	C	+	2	0	NFX1	33303762	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	8.344000	0.90055	2.597000	0.87782	0.579000	0.79373	TGC		0.488	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			A	33313762	G	A	33313762	3	1	5	1	0	0	0	0	1	0	0	0	10387	1319	46	2	1585	2	NFX1	9	33313762	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10		33313762	107899669	64	282											
UBAP2	55833	hgsc.bcm.edu	37	9	33927935	33927935	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr9:33927935G>C	ENST00000379238.1	-	20	2348	c.2231C>G	c.(2230-2232)gCa>gGa	p.A744G	UBAP2_ENST00000449054.1_Missense_Mutation_p.A744G|UBAP2_ENST00000379239.4_Missense_Mutation_p.A477G|UBAP2_ENST00000418786.2_Missense_Mutation_p.Q669E|UBAP2_ENST00000360802.1_Missense_Mutation_p.A744G|UBAP2_ENST00000539807.1_Missense_Mutation_p.A499G|UBAP2_ENST00000379235.1_5'UTR					ubiquitin associated protein 2									p.A744G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGAGGTCGCTGCCGTGGAGAA	0.617																																																1	Substitution - Missense(1)	ovary(1)	9											83	73	76					9																	33927935		2203	4300	6503	33917935	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2231C>G	9.37:g.33927935G>C	ENSP00000368540:p.Ala744Gly		33917935		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.92|12.92	2.082009|2.082009	0.36758|0.36758	.|.	.|.	ENSG00000137073|ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000351580|ENST00000418786	T;T;T;T;T|T	0.37584|0.18502	1.19;1.19;1.19;1.19;1.19|2.21	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.481291|.	0.24249|.	N|.	0.040188|.	T|T	0.19287|0.19287	0.0463|0.0463	M|M	0.67953|0.67953	2.075|2.075	0.20196|0.20196	N|N	0.999924|0.999924	P;B;B;B;P|B	0.38827|0.32467	0.649;0.421;0.421;0.421;0.518|0.372	B;B;B;B;B|B	0.37601|0.27796	0.254;0.254;0.254;0.254;0.129|0.083	T|T	0.48658|0.48658	-0.9016|-0.9016	10|9	0.42905|0.02654	T|T	0.14|1	-7.4298|-7.4298	19.1371|19.1371	0.93431|0.93431	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	669;499;477;653;744|669	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2|E7EWG4	.;.;.;.;UBAP2_HUMAN|.	G|E	744;744;744;653;477;499;180|669	ENSP00000368540:A744G;ENSP00000416932:A744G;ENSP00000354039:A744G;ENSP00000368541:A477G;ENSP00000439329:A499G|ENSP00000404436:Q669E	ENSP00000259602:A180G|ENSP00000404436:Q669E	A|Q	-|-	2|1	0|0	UBAP2|UBAP2	33917935|33917935	0.980000|0.980000	0.34600|0.34600	0.067000|0.067000	0.19924|0.19924	0.026000|0.026000	0.11368|0.11368	5.549000|5.549000	0.67261|0.67261	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.617	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		C	33927935	G	C	33927935	3	2	5	1	0	0	0	0	1	0	0	0	16837	1319	46	3	1168	3	UBAP2	9	33927935	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	614173	33927935	107285496	65	283											
GNAQ	2776	hgsc.bcm.edu	37	9	80343574	80343574	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr9:80343574C>T	ENST00000286548.4	-	6	967	c.745G>A	c.(745-747)Gag>Aag	p.E249K	GNAQ_ENST00000397476.3_Missense_Mutation_p.E47K	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	249					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.E249K(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TTGCTTTCCTCCATTCGGTTC	0.338			Mis		uveal melanoma																																		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	1	Substitution - Missense(1)	ovary(1)	9											114	114	114					9																	80343574		2203	4300	6503	79533394	SO:0001583	missense	2776				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.745G>A	9.37:g.80343574C>T	ENSP00000286548:p.Glu249Lys		79533394	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966140	0.74131	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.89270	-2.49;-2.49	5.83	5.83	0.93111	.	0.045349	0.85682	D	0.000000	D	0.85890	0.5802	L	0.31926	0.97	0.80722	D	1	B	0.10296	0.003	B	0.19148	0.024	T	0.80089	-0.1528	10	0.59425	D	0.04	.	20.1141	0.97919	0.0:1.0:0.0:0.0	.	249	P50148	GNAQ_HUMAN	K	249;47	ENSP00000286548:E249K;ENSP00000443197:E47K	ENSP00000286548:E249K	E	-	1	0	GNAQ	79533394	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.757000	0.94681	0.591000	0.81541	GAG		0.338	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		T	80343574	C	T	80343574	3	4	5	1	0	0	0	0	1	0	0	0	6509	864	30	2	342	2	GNAQ	9	80343574	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	46415639	80343574	60869857	66	284											
FGD3	89846	hgsc.bcm.edu	37	9	95765242	95765242	+	Silent	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr9:95765242G>A	ENST00000375482.3	+	4	985	c.489G>A	c.(487-489)caG>caA	p.Q163Q	FGD3_ENST00000416701.2_Silent_p.Q163Q|FGD3_ENST00000337352.6_Silent_p.Q163Q	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	163	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.Q163Q(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACATTGCCCAGGAGCTCCTGC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	9											110	120	117					9																	95765242		1991	4176	6167	94805063	SO:0001819	synonymous_variant	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.489G>A	9.37:g.95765242G>A			94805063	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	CCDS43849.1																																																																																				0.592	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		A	95765242	G	A	95765242	2	1	5	1	0	0	0	0	0	0	0	1	5834	991	35	2		2	FGD3	9	95765242	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10	15421668	95765242	45448189	67	285											
PTPN3	5774	hgsc.bcm.edu	37	9	112144675	112144675	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr9:112144675T>A	ENST00000374541.2	-	24	2539	c.2435A>T	c.(2434-2436)cAc>cTc	p.H812L	PTPN3_ENST00000412145.1_Missense_Mutation_p.H681L|PTPN3_ENST00000394827.3_Missense_Mutation_p.H280L|PTPN3_ENST00000262539.3_Missense_Mutation_p.H658L|PTPN3_ENST00000446349.1_Missense_Mutation_p.H636L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	812	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.H812L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGCACACCGTGGTCAGGCCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	9											210	154	173					9																	112144675		2203	4300	6503	111184496	SO:0001583	missense	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2435A>T	9.37:g.112144675T>A	ENSP00000363667:p.His812Leu		111184496	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	T	36	5.604749	0.96626	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.24	5.24	0.73138	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	H	0.94222	3.51	0.80722	D	1	P;P;P	0.50819	0.939;0.66;0.904	B;B;P	0.52672	0.428;0.345;0.706	T	0.63134	-0.6705	10	0.87932	D	0	.	15.1578	0.72759	0.0:0.0:0.0:1.0	.	658;767;812	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	L	812;681;636;812;280;658	ENSP00000416654:H681L;ENSP00000395384:H636L;ENSP00000363667:H812L;ENSP00000378304:H280L;ENSP00000262539:H658L	ENSP00000262539:H658L	H	-	2	0	PTPN3	111184496	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.033000	0.88852	1.971000	0.57363	0.454000	0.30748	CAC		0.562	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			A	112144675	T	A	112144675	3	1	5	1	0	0	0	0	1	0	0	0	12792	1696	59	5	318	5	PTPN3	9	112144675	Missense_Mutation	SNP	T	TCGA-04-1338-01A-01W-0484-10	16379433	112144675	29068756	68	286	2	2									
PTPN3	5774	hgsc.bcm.edu	37	9	112144677	112144677	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr9:112144677G>T	ENST00000374541.2	-	24	2537	c.2433C>A	c.(2431-2433)gaC>gaA	p.D811E	PTPN3_ENST00000412145.1_Missense_Mutation_p.D680E|PTPN3_ENST00000394827.3_Missense_Mutation_p.D279E|PTPN3_ENST00000262539.3_Missense_Mutation_p.D657E|PTPN3_ENST00000446349.1_Missense_Mutation_p.D635E	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	811	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.D811E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACACCGTGGTCAGGCCATG	0.557																																																1	Substitution - Missense(1)	ovary(1)	9											215	157	177					9																	112144677		2203	4300	6503	111184498	SO:0001583	missense	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2433C>A	9.37:g.112144677G>T	ENSP00000363667:p.Asp811Glu		111184498	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654520	0.67472	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.24	4.14	0.48551	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.83223	2.63	0.49051	D	0.999745	P;B;B	0.41450	0.75;0.255;0.401	B;B;B	0.40702	0.32;0.176;0.338	T	0.31052	-0.9957	10	0.87932	D	0	.	9.0594	0.36425	0.2154:0.0:0.7846:0.0	.	657;766;811	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	E	811;680;635;811;279;657	ENSP00000416654:D680E;ENSP00000395384:D635E;ENSP00000363667:D811E;ENSP00000378304:D279E;ENSP00000262539:D657E	ENSP00000262539:D657E	D	-	3	2	PTPN3	111184498	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.509000	0.53386	2.433000	0.82419	0.555000	0.69702	GAC		0.557	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			T	112144677	G	T	112144677	3	4	5	1	0	0	0	0	1	0	0	0	12792	1252	44	3	320	3	PTPN3	9	112144677	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	2	112144677	29068754	69	287	2	2									
SVEP1	79987	hgsc.bcm.edu	37	9	113169539	113169539	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr9:113169539C>T	ENST00000401783.2	-	38	8677	c.8341G>A	c.(8341-8343)Gtc>Atc	p.V2781I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V2758I|SVEP1_ENST00000297826.5_Missense_Mutation_p.V707I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2781	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.V2784I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCATTCATGACTGGATTTGGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	9											118	118	118					9																	113169539		2040	4190	6230	112209360	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8341G>A	9.37:g.113169539C>T	ENSP00000384917:p.Val2781Ile		112209360	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.277976	0.00254	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.63580	-0.05;-0.05;-0.05	5.47	-10.9	0.00192	Complement control module (2);Sushi/SCR/CCP (3);	0.613800	0.16396	N	0.216256	T	0.21267	0.0512	N	0.01515	-0.825	0.23607	N	0.997306	B	0.09022	0.002	B	0.06405	0.002	T	0.20672	-1.0268	10	0.02654	T	1	.	12.9611	0.58458	0.0:0.1655:0.3244:0.5102	.	2781	Q4LDE5	SVEP1_HUMAN	I	2781;2758;707;453	ENSP00000384917:V2781I;ENSP00000363593:V2758I;ENSP00000297826:V707I	ENSP00000297826:V707I	V	-	1	0	SVEP1	112209360	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-2.165000	0.01274	-3.197000	0.00218	-2.016000	0.00434	GTC		0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113169539	C	T	113169539	3	4	5	1	0	0	0	0	1	0	0	0	15420	565	20	2	2418	2	SVEP1	9	113169539	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	1024862	113169539	28043892	70	288											
SVEP1	79987	hgsc.bcm.edu	37	9	113241982	113241982	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr9:113241982G>C	ENST00000401783.2	-	13	2756	c.2420C>G	c.(2419-2421)gCt>gGt	p.A807G	SVEP1_ENST00000374469.1_Missense_Mutation_p.A784G|SVEP1_ENST00000374461.1_Missense_Mutation_p.A784G|SVEP1_ENST00000302728.8_Missense_Mutation_p.A807G|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	807					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.A807G(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACAACGAGCTGCTTTGTA	0.383																																																1	Substitution - Missense(1)	ovary(1)	9											236	226	229					9																	113241982		1844	4094	5938	112281803	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2420C>G	9.37:g.113241982G>C	ENSP00000384917:p.Ala807Gly		112281803	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922264	0.73213	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.76709	-0.9;-0.91;-1.04;1.32	5.62	5.62	0.85841	.	0.103647	0.64402	D	0.000003	T	0.62196	0.2408	N	0.03608	-0.345	0.33416	D	0.579255	B;B;B	0.22211	0.005;0.002;0.066	B;B;B	0.24394	0.003;0.002;0.053	T	0.67348	-0.5693	10	0.59425	D	0.04	.	19.251	0.93925	0.0:0.0:1.0:0.0	.	807;807;807	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	G	807;784;807;784	ENSP00000384917:A807G;ENSP00000363593:A784G;ENSP00000304118:A807G;ENSP00000363585:A784G	ENSP00000304118:A807G	A	-	2	0	SVEP1	112281803	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.093000	0.94163	2.646000	0.89796	0.557000	0.71058	GCT		0.383	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113241982	G	C	113241982	3	2	5	1	0	0	0	0	1	0	0	0	15420	971	34	3	8439	3	SVEP1	9	113241982	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	72443	113241982	27971449	71	289											
ITIH5	80760	hgsc.bcm.edu	37	10	7621907	7621907	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr10:7621907G>C	ENST00000256861.6	-	9	1307	c.1229C>G	c.(1228-1230)aCg>aGg	p.T410R	ITIH5_ENST00000298441.6_Missense_Mutation_p.T196R|ITIH5_ENST00000397145.2_Missense_Mutation_p.T410R|ITIH5_ENST00000397146.2_Missense_Mutation_p.T410R|ITIH5_ENST00000446830.2_Missense_Mutation_p.T192R|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	410	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T410R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCCCCGACCGTGGGCTTCCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	10											116	102	107					10																	7621907		2203	4300	6503	7661913	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1229C>G	10.37:g.7621907G>C	ENSP00000256861:p.Thr410Arg		7661913	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.648851	0.87958	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.086607	0.85682	D	0.000000	D	0.89058	0.6607	.	.	.	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.996	D;D;D	0.85130	0.997;0.972;0.953	D	0.90300	0.4329	9	0.87932	D	0	-34.6867	18.9935	0.92803	0.0:0.0:1.0:0.0	.	410;410;196	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	R	410;410;196;192;410	ENSP00000256861:T410R;ENSP00000380333:T410R;ENSP00000298441:T196R;ENSP00000387969:T192R;ENSP00000380332:T410R	ENSP00000256861:T410R	T	-	2	0	ITIH5	7661913	1.000000	0.71417	0.946000	0.38457	0.726000	0.41606	9.145000	0.94634	2.491000	0.84063	0.561000	0.74099	ACG		0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		C	7621907	G	C	7621907	3	2	5	1	0	0	0	0	1	0	0	0	7907	1145	40	3	1746	3	ITIH5	10	7621907	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10		7621907	127912840	72	290											
FAM171A1	221061	hgsc.bcm.edu	37	10	15296825	15296825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr10:15296825C>A	ENST00000378116.4	-	4	478	c.472G>T	c.(472-474)Gag>Tag	p.E158*		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	158						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E158*(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTGGTGTTCTCAGGCAACCTC	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	10											61	58	59					10																	15296825		2203	4300	6503	15336831	SO:0001587	stop_gained	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.472G>T	10.37:g.15296825C>A	ENSP00000367356:p.Glu158*		15336831	D3DRT9|Q32M49|Q8N4I0	Nonsense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193582	0.94960	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	.	.	.	5.11	5.11	0.69529	.	0.364462	0.29616	N	0.011647	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-25.5114	18.9182	0.92515	0.0:1.0:0.0:0.0	.	.	.	.	X	158;159	.	ENSP00000367356:E158X	E	-	1	0	FAM171A1	15336831	0.994000	0.37717	0.941000	0.38009	0.896000	0.52359	3.047000	0.49854	2.545000	0.85829	0.650000	0.86243	GAG		0.562	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		A	15296825	C	A	15296825	4	1	5	1	0	0	0	0	0	1	0	0	5490	835	29	3	2220	3	FAM171A1	10	15296825	Nonsense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	7674918	15296825	120237922	73	291											
C1QL3	389941	hgsc.bcm.edu	37	10	16556654	16556654	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr10:16556654C>G	ENST00000298943.3	-	2	1580	c.641G>C	c.(640-642)aGt>aCt	p.S214T		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	214	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.S214T(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CACACTGTTACTGGCATAGTC	0.428																																																1	Substitution - Missense(1)	ovary(1)	10											106	91	96					10																	16556654		2203	4299	6502	16596660	SO:0001583	missense	389941				CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.641G>C	10.37:g.16556654C>G	ENSP00000298943:p.Ser214Thr		16596660	A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937741	0.73557	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.79940	-1.32	5.76	4.86	0.63082	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	L	0.51914	1.62	0.54753	D	0.999983	D	0.71674	0.998	D	0.72338	0.977	D	0.86671	0.1910	10	0.51188	T	0.08	.	14.8565	0.70341	0.0:0.931:0.0:0.069	.	214	Q5VWW1	C1QL3_HUMAN	T	214;191	ENSP00000298943:S214T	ENSP00000298943:S214T	S	-	2	0	C1QL3	16596660	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.818000	0.86416	1.446000	0.47643	0.655000	0.94253	AGT		0.428	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		G	16556654	C	G	16556654	3	3	5	1	0	0	0	0	1	0	0	0	1960	565	20	3	130	3	C1QL3	10	16556654	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	1259829	16556654	118978093	74	292											
ARMC4	55130	hgsc.bcm.edu	37	10	28101521	28101521	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr10:28101521C>A	ENST00000305242.5	-	20	3147	c.3055G>T	c.(3055-3057)Gat>Tat	p.D1019Y	ARMC4_ENST00000537576.1_Intron|ARMC4_ENST00000545014.1_Missense_Mutation_p.R584S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1019					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.D1019Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCTGGAGATCCTGGTCAGGG	0.418																																																1	Substitution - Missense(1)	ovary(1)	10											83	84	83					10																	28101521		2203	4300	6503	28141527	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.3055G>T	10.37:g.28101521C>A	ENSP00000306410:p.Asp1019Tyr		28141527	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.139|9.139	1.013296|1.013296	0.19277|0.19277	.|.	.|.	ENSG00000169126|ENSG00000169126	ENST00000305242|ENST00000545014	T|T	0.68903|0.58060	-0.36|0.36	5.78|5.78	5.78|5.78	0.91487|0.91487	Armadillo-like helical (1);Armadillo-type fold (1);|.	1.050840|.	0.07413|.	N|.	0.892753|.	T|T	0.36468|0.36468	0.0968|0.0968	N|N	0.19112|0.19112	0.55|0.55	0.47905|0.47905	D|D	0.999544|0.999544	P|B	0.45240|0.20368	0.854|0.044	P|B	0.49477|0.19148	0.612|0.024	T|T	0.27054|0.27054	-1.0085|-1.0085	10|9	0.62326|0.72032	D|D	0.03|0.01	-8.6351|-8.6351	7.9666|7.9666	0.30102|0.30102	0.0:0.8076:0.0:0.1924|0.0:0.8076:0.0:0.1924	.|.	1019|584	Q5T2S8|B7Z7I1	ARMC4_HUMAN|.	Y|S	1019|584	ENSP00000306410:D1019Y|ENSP00000441076:R584S	ENSP00000306410:D1019Y|ENSP00000441076:R584S	D|R	-|-	1|3	0|2	ARMC4|ARMC4	28141527|28141527	0.112000|0.112000	0.22096|0.22096	0.041000|0.041000	0.18516|0.18516	0.396000|0.396000	0.30629|0.30629	1.358000|1.358000	0.34102|0.34102	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	GAT|AGG		0.418	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		A	28101521	C	A	28101521	3	1	5	1	0	0	0	0	1	0	0	0	953	855	30	3	83	3	ARMC4	10	28101521	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	11544867	28101521	107433226	75	293											
HKDC1	80201	hgsc.bcm.edu	37	10	71010108	71010108	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr10:71010108A>G	ENST00000354624.5	+	11	1766	c.1633A>G	c.(1633-1635)Atc>Gtc	p.I545V	HKDC1_ENST00000395086.2_Missense_Mutation_p.I545V	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	545	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.I545V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCTGGTGAAGATCAGAAGTGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	10											123	121	122					10																	71010108		2203	4300	6503	70680114	SO:0001583	missense	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1633A>G	10.37:g.71010108A>G	ENSP00000346643:p.Ile545Val		70680114	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	3.482	-0.105603	0.06967	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98978	-5.29;-5.29	5.09	2.69	0.31865	Hexokinase, N-terminal (1);	0.106703	0.64402	D	0.000009	D	0.94509	0.8232	N	0.11724	0.165	0.41567	D	0.98866	B	0.06786	0.001	B	0.17433	0.018	D	0.88459	0.3054	10	0.11794	T	0.64	-14.7861	6.9706	0.24646	0.7945:0.0:0.0727:0.1328	.	545	Q2TB90	HKDC1_HUMAN	V	545	ENSP00000346643:I545V;ENSP00000378521:I545V	ENSP00000346643:I545V	I	+	1	0	HKDC1	70680114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.241000	0.51376	0.380000	0.24823	0.459000	0.35465	ATC		0.547	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		G	71010108	A	G	71010108	3	3	5	1	0	0	0	0	1	0	0	0	7193	333	12	4	1675	4	HKDC1	10	71010108	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	42908587	71010108	64524639	76	294											
UNC5B	219699	hgsc.bcm.edu	37	10	73047432	73047432	+	Missense_Mutation	SNP	C	C	T	rs149211819		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr10:73047432C>T	ENST00000335350.6	+	6	1227	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	UNC5B_ENST00000373192.4_Missense_Mutation_p.R271W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	271	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.R271W(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GAAGCGCACCCGGACCTGCAC	0.662																																																1	Substitution - Missense(1)	ovary(1)	10							TRP/ARG	0,4406		0,0,2203	72	71	72		811	3.1	0.6	10	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC5B	NM_170744.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	271/946	73047432	1,13005	2203	4300	6503	72717438	SO:0001583	missense	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.811C>T	10.37:g.73047432C>T	ENSP00000334329:p.Arg271Trp		72717438	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022727	0.75275	0.0	1.16E-4	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.65732	-0.17;-0.17	5.02	3.09	0.35607	.	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	H	0.99609	4.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90809	0.4700	10	0.87932	D	0	-33.0732	12.9142	0.58197	0.4168:0.5832:0.0:0.0	.	271;271	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	W	271	ENSP00000334329:R271W;ENSP00000362288:R271W	ENSP00000334329:R271W	R	+	1	2	UNC5B	72717438	0.979000	0.34478	0.566000	0.28421	0.998000	0.95712	2.473000	0.45145	0.476000	0.27440	0.537000	0.68136	CGG		0.662	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	73047432	C	T	73047432	3	4	5	1	0	0	0	0	1	0	0	0	16992	643	23	1	833	1	UNC5B	10	73047432	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	2037324	73047432	62487315	77	295											
DNMBP	23268	hgsc.bcm.edu	37	10	101716493	101716493	+	Silent	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr10:101716493G>T	ENST00000324109.4	-	4	829	c.738C>A	c.(736-738)acC>acA	p.T246T	DNMBP_ENST00000342239.3_Silent_p.T246T|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	246	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T246T(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CGACCCCATAGGTCCCTGGCT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	10											78	84	82					10																	101716493		2203	4300	6503	101706483	SO:0001819	synonymous_variant	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.738C>A	10.37:g.101716493G>T			101706483	Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	CCDS7485.1																																																																																				0.512	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		T	101716493	G	T	101716493	2	4	5	1	0	0	0	0	0	0	0	1	4674	987	35	3		3	DNMBP	10	101716493	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10	28669061	101716493	33818254	78	296											
PAOX	196743	hgsc.bcm.edu	37	10	135194999	135195004	+	In_Frame_Del	DEL	CCCTGC	CCCTGC	-			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	CCCTGC	CCCTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr10:135194999_135195004delCCCTGC	ENST00000278060.5	+	3	787_792	c.704_709delCCCTGC	c.(703-711)gccctgccg>gcg	p.LP236del	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_In_Frame_Del_p.LP236del|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000480071.2_In_Frame_Del_p.LP236del	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	374					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ATGATGGCCGCCCTGCCGGAGGACAC	0.568																																																0			10																																								135044994	SO:0001651	inframe_deletion	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.704_709delCCCTGC	10.37:g.135194999_135195004delCCCTGC	ENSP00000278060:p.Leu236_Pro237del		135044989	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	In_Frame_Del	DEL	ENST00000278060.5	37	CCDS7683.1																																																																																				0.568	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		-	135195004	CCCTGC	-	135194999	7	5	5	1	0	1	0	1	0	0	0	0	11423	739	26	0	714	0	PAOX	10	135194999	In_Frame_Del	DEL	CCCTGC	TCGA-04-1338-01A-01W-0484-10	33478506	135194999	339748	79	297											
TRIM21	6737	hgsc.bcm.edu	37	11	4408208	4408208	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr11:4408208C>G	ENST00000254436.7	-	5	860	c.748G>C	c.(748-750)Gtc>Ctc	p.V250L	TRIM21_ENST00000543625.1_Intron	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	250					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V250L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTTTCCAGGACAATTATCACC	0.448																																																1	Substitution - Missense(1)	ovary(1)	11											77	71	73					11																	4408208		1926	4138	6064	4364784	SO:0001583	missense	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.748G>C	11.37:g.4408208C>G	ENSP00000254436:p.Val250Leu		4364784	Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701535	0.30142	.	.	ENSG00000132109	ENST00000254436	T	0.05081	3.5	4.04	1.95	0.26073	.	.	.	.	.	T	0.05364	0.0142	L	0.35723	1.085	0.50467	D	0.999879	B	0.02656	0.0	B	0.04013	0.001	T	0.27739	-1.0065	9	0.72032	D	0.01	.	5.1844	0.15176	0.0:0.6791:0.0:0.3209	.	250	P19474	RO52_HUMAN	L	250	ENSP00000254436:V250L	ENSP00000254436:V250L	V	-	1	0	TRIM21	4364784	0.053000	0.20554	0.699000	0.30290	0.985000	0.73830	-0.209000	0.09358	0.528000	0.28580	0.655000	0.94253	GTC		0.448	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		G	4408208	C	G	4408208	3	3	5	1	0	0	0	0	1	0	0	0	16495	478	17	3	691	3	TRIM21	11	4408208	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10		4408208	130598308	80	298											
USP47	55031	hgsc.bcm.edu	37	11	11964115	11964115	+	Silent	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr11:11964115G>A	ENST00000399455.2	+	21	2727	c.2607G>A	c.(2605-2607)gtG>gtA	p.V869V	USP47_ENST00000339865.5_Silent_p.V781V|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.V849V	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	869					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.V781V(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TAAAGTCTGTGGAAGCTATTC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	11											65	63	64					11																	11964115		1887	4104	5991	11920691	SO:0001819	synonymous_variant	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2607G>A	11.37:g.11964115G>A			11920691	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37																																																																																					0.443	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		A	11964115	G	A	11964115	2	1	5	1	0	0	0	0	0	0	0	1	17078	1335	47	2		2	USP47	11	11964115	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10	7555907	11964115	123042401	81	299											
GAS2	2620	hgsc.bcm.edu	37	11	22707267	22707267	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr11:22707267C>A	ENST00000454584.2	+	3	504	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	GAS2_ENST00000533092.1_3'UTR|RNA5SP338_ENST00000410495.1_RNA|GAS2_ENST00000433790.1_Missense_Mutation_p.L67I|GAS2_ENST00000278187.3_Missense_Mutation_p.L67I	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	67	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)		p.L67I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TGGTGCCTTGCTCTGTCAACT	0.383																																																1	Substitution - Missense(1)	ovary(1)	11											110	108	109					11																	22707267		2203	4300	6503	22663843	SO:0001583	missense	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.199C>A	11.37:g.22707267C>A	ENSP00000401145:p.Leu67Ile		22663843	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345734	0.82022	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.42	5.42	0.78866	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	M	0.91038	3.17	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	D	0.91420	0.5158	10	0.87932	D	0	-10.0723	19.5786	0.95455	0.0:1.0:0.0:0.0	.	67	O43903	GAS2_HUMAN	I	67	ENSP00000432584:L67I;ENSP00000401145:L67I;ENSP00000434478:L67I;ENSP00000278187:L67I;ENSP00000433182:L67I;ENSP00000435946:L67I;ENSP00000396708:L67I	ENSP00000278187:L67I	L	+	1	0	GAS2	22663843	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.643000	0.54374	2.711000	0.92665	0.655000	0.94253	CTC		0.383	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		A	22707267	C	A	22707267	3	1	5	1	0	0	0	0	1	0	0	0	6245	797	28	3	205	3	GAS2	11	22707267	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	10743152	22707267	112299249	82	300											
PSMC3	5702	hgsc.bcm.edu	37	11	47446256	47446256	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr11:47446256C>G	ENST00000298852.3	-	4	449	c.292G>C	c.(292-294)Gat>Cat	p.D98H	PSMC3_ENST00000530912.1_Missense_Mutation_p.D56H|PSMC3_ENST00000602866.1_Missense_Mutation_p.D82H	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	98					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.D98H(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGATCAACATCCAGGAGCTGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	11											86	76	79					11																	47446256		2201	4298	6499	47402832	SO:0001583	missense	5702			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.292G>C	11.37:g.47446256C>G	ENSP00000298852:p.Asp98His		47402832	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597540	0.66332	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906;ENST00000526993;ENST00000531653;ENST00000528362	D;D	0.95069	-3.6;-3.5	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.97309	0.9120	M	0.93594	3.435	0.80722	D	1	D;D	0.64830	0.994;0.977	P;P	0.58391	0.838;0.717	D	0.97679	1.0171	10	0.66056	D	0.02	-21.5707	13.4286	0.61042	0.0:0.9237:0.0:0.0763	.	56;98	E9PM69;P17980	.;PRS6A_HUMAN	H	98;56;63;63;63;63;63;106;82;82	ENSP00000298852:D98H;ENSP00000433097:D56H	ENSP00000298852:D98H	D	-	1	0	PSMC3	47402832	1.000000	0.71417	0.837000	0.33122	0.599000	0.36880	7.530000	0.81962	1.244000	0.43870	0.561000	0.74099	GAT		0.512	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		G	47446256	C	G	47446256	3	3	5	1	0	0	0	0	1	0	0	0	12690	855	30	3	1063	3	PSMC3	11	47446256	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	24738989	47446256	87560260	83	301											
OR9G4	283189	hgsc.bcm.edu	37	11	56510430	56510430	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr11:56510430G>C	ENST00000302957.3	-	1	857	c.858C>G	c.(856-858)gaC>gaG	p.D286E		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D286E(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGCTACTTTGTCCCTCTCTA	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											195	159	171					11																	56510430		2201	4296	6497	56267006	SO:0001583	missense	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.858C>G	11.37:g.56510430G>C	ENSP00000307515:p.Asp286Glu		56267006	Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048951	0.55110	.	.	ENSG00000172457	ENST00000302957	T	0.00227	8.5	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000803	T	0.00440	0.0014	M	0.73753	2.245	0.30873	N	0.732296	D	0.89917	1.0	D	0.87578	0.998	T	0.42783	-0.9431	10	0.54805	T	0.06	-33.1987	6.4984	0.22155	0.0888:0.0:0.7299:0.1812	.	286	Q8NGQ1	OR9G4_HUMAN	E	286	ENSP00000307515:D286E	ENSP00000307515:D286E	D	-	3	2	OR9G4	56267006	0.058000	0.20735	1.000000	0.80357	0.749000	0.42624	0.546000	0.23284	2.636000	0.89361	0.643000	0.83706	GAC		0.463	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		C	56510430	G	C	56510430	3	2	5	1	0	0	0	0	1	0	0	0	11251	1368	48	3	128	3	OR9G4	11	56510430	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	9064174	56510430	78496086	84	302											
VWCE	220001	hgsc.bcm.edu	37	11	61053805	61053805	+	Silent	SNP	G	G	T	rs574658486		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr11:61053805G>T	ENST00000335613.5	-	5	908	c.522C>A	c.(520-522)gcC>gcA	p.A174A		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	174	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A174A(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGTGGCGGTCGGCAGACAGCT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	11											101	100	101					11																	61053805		2203	4298	6501	60810381	SO:0001819	synonymous_variant	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.522C>A	11.37:g.61053805G>T			60810381	A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	CCDS8002.1																																																																																				0.592	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		T	61053805	G	T	61053805	2	4	5	1	0	0	0	0	0	0	0	1	17245	1103	39	3		3	VWCE	11	61053805	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10	4543375	61053805	73952711	85	303											
DDB1	1642	hgsc.bcm.edu	37	11	61079464	61079464	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr11:61079464G>A	ENST00000301764.7	-	17	2559	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	721	Interaction with CDT1.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.P721L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCTCACCTTGGAGACTCATA	0.542								Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	11											163	158	160					11																	61079464		2203	4299	6502	60836040	SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2162C>T	11.37:g.61079464G>A	ENSP00000301764:p.Pro721Leu		60836040	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082846	0.94050	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.29917	1.55;1.55	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71586	-0.4548	10	0.72032	D	0.01	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	721	Q16531	DDB1_HUMAN	L	721;188	ENSP00000301764:P721L;ENSP00000444650:P188L	ENSP00000301764:P721L	P	-	2	0	DDB1	60836040	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.869000	0.99810	2.793000	0.96121	0.591000	0.81541	CCA		0.542	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		A	61079464	G	A	61079464	3	1	5	1	0	0	0	0	1	0	0	0	4323	1348	47	2	1304	2	DDB1	11	61079464	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	25659	61079464	73927052	86	304											
C11orf30	56946	hgsc.bcm.edu	37	11	76174951	76174951	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr11:76174951G>T	ENST00000529032.1	+	6	658	c.658G>T	c.(658-660)Gtt>Ttt	p.V220F	C11orf30_ENST00000334736.3_Missense_Mutation_p.V220F|C11orf30_ENST00000524490.1_Missense_Mutation_p.V221F|C11orf30_ENST00000524767.1_Missense_Mutation_p.V235F|C11orf30_ENST00000525038.1_Missense_Mutation_p.V235F|C11orf30_ENST00000525919.1_Missense_Mutation_p.V221F|C11orf30_ENST00000533248.1_Missense_Mutation_p.V234F|C11orf30_ENST00000343878.3_Missense_Mutation_p.V220F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	220	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V220F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCTAAAGGAAGTTCCAAAGGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											185	184	184					11																	76174951		2200	4292	6492	75852599	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.658G>T	11.37:g.76174951G>T	ENSP00000432327:p.Val220Phe		75852599	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252072	0.80135	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;0.998;0.998;1.0;1.0;0.999;0.998;0.999	D;D;D;D;D;D;D;D	0.85130	0.991;0.991;0.991;0.997;0.997;0.994;0.991;0.994	T	0.56667	-0.7941	10	0.56958	D	0.05	-8.2232	19.6753	0.95930	0.0:0.0:1.0:0.0	.	234;235;235;220;170;221;221;220	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;.;EMSY_HUMAN	F	221;220;220;170;235;234;221;235;220	ENSP00000431166:V221F;ENSP00000334130:V220F;ENSP00000344688:V220F;ENSP00000433205:V235F;ENSP00000433634:V234F;ENSP00000432010:V221F;ENSP00000436968:V235F;ENSP00000432327:V220F	ENSP00000334130:V220F	V	+	1	0	C11orf30	75852599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.648000	0.89879	0.563000	0.77884	GTT		0.473	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		T	76174951	G	T	76174951	3	4	5	1	0	0	0	0	1	0	0	0	1636	1029	36	3	680	3	C11orf30	11	76174951	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	15095487	76174951	58831565	87	305											
BIRC2	329	hgsc.bcm.edu	37	11	102220912	102220912	+	Silent	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr11:102220912C>T	ENST00000227758.2	+	2	1726	c.327C>T	c.(325-327)agC>agT	p.S109S	BIRC2_ENST00000530675.1_Silent_p.S60S|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Silent_p.S88S	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	109					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S109S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TATATCCTAGCTGTAGCTTTA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	11											95	95	95					11																	102220912		2203	4299	6502	101726122	SO:0001819	synonymous_variant	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.327C>T	11.37:g.102220912C>T			101726122	B4E026|Q16516|Q4TTG0	Silent	SNP	ENST00000227758.2	37	CCDS8316.1																																																																																				0.418	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		T	102220912	C	T	102220912	2	4	5	1	0	0	0	0	0	0	0	1	1435	796	28	2		2	BIRC2	11	102220912	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	26045961	102220912	32785604	88	306											
IFFO1	25900	hgsc.bcm.edu	37	12	6660116	6660129	+	Frame_Shift_Del	DEL	CTCATTTACACGGT	CTCATTTACACGGT	-	rs201471948|rs375866509	byFrequency	TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	CTCATTTACACGGT	CTCATTTACACGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr12:6660116_6660129delCTCATTTACACGGT	ENST00000396840.2	-	2	853_866	c.812_825delACCGTGTAAATGAG	c.(811-825)gaccgtgtaaatgagfs	p.DRVNE271fs	IFFO1_ENST00000336604.4_Frame_Shift_Del_p.DRVNE271fs|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000465801.1_5'UTR|IFFO1_ENST00000356896.4_Frame_Shift_Del_p.DRVNE271fs			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	271						intermediate filament (GO:0005882)		p.D271fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CCTCCTGGAGCTCATTTACACGGTCTTGCAGCTG	0.621																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								6530390	SO:0001589	frameshift_variant	25900			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.812_825delACCGTGTAAATGAG	12.37:g.6660116_6660129delCTCATTTACACGGT	ENSP00000380052:p.Asp271fs		6530377	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Frame_Shift_Del	DEL	ENST00000396840.2	37																																																																																					0.621	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		-	6660129	CTCATTTACACGGT	-	6660116	7	5	5	1	0	1	0	1	0	0	0	0	7510	796	28	0	902	0	IFFO1	12	6660116	Frame_Shift_Del	DEL	CTCATTTACACGGT	TCGA-04-1338-01A-01W-0484-10		6660116	127191779	89	307											
A2M	2	hgsc.bcm.edu	37	12	9230420	9230420	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr12:9230420T>G	ENST00000318602.7	-	26	3460	c.3153A>C	c.(3151-3153)caA>caC	p.Q1051H	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1051					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.Q1051H(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGGCTCGAGCTTGGGCAAAAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	12											110	115	113					12																	9230420		2202	4300	6502	9121687	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3153A>C	12.37:g.9230420T>G	ENSP00000323929:p.Gln1051His		9121687	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.578091	0.65878	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.35605	1.3	5.54	3.71	0.42584	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.353602	0.28088	N	0.016653	T	0.65428	0.2690	M	0.94021	3.485	0.31240	N	0.695256	D	0.76494	0.999	D	0.76071	0.987	T	0.71537	-0.4563	10	0.87932	D	0	.	8.5507	0.33449	0.0:0.7015:0.0:0.2985	.	1051	P01023	A2MG_HUMAN	H	1051;1066	ENSP00000323929:Q1051H	ENSP00000323929:Q1051H	Q	-	3	2	A2M	9121687	0.980000	0.34600	1.000000	0.80357	0.983000	0.72400	0.213000	0.17521	0.692000	0.31613	-0.472000	0.04984	CAA		0.473	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		G	9230420	T	G	9230420	3	3	5	1	0	0	0	0	1	0	0	0	4	1606	56	5	1315	5	A2M	12	9230420	Missense_Mutation	SNP	T	TCGA-04-1338-01A-01W-0484-10	2570304	9230420	124621475	90	308											
ESYT1	23344	hgsc.bcm.edu	37	12	56522339	56522339	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr12:56522339G>T	ENST00000394048.5	+	1	500	c.236G>T	c.(235-237)gGt>gTt	p.G79V	ESYT1_ENST00000267113.4_Missense_Mutation_p.G79V|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.G79V|RP11-603J24.5_ENST00000549438.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	79					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.G79V(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTCAGCGTGGGTTTCGTGCTC	0.667																																																1	Substitution - Missense(1)	ovary(1)	12											145	139	141					12																	56522339		2203	4300	6503	54808606	SO:0001583	missense	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.236G>T	12.37:g.56522339G>T	ENSP00000377612:p.Gly79Val		54808606	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582028	0.86748	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.77229	-1.08;-1.08;-1.08	4.86	4.86	0.63082	.	0.206931	0.49916	D	0.000131	T	0.70570	0.3239	N	0.25201	0.72	0.80722	D	1	P;P	0.47034	0.826;0.889	P;B	0.45712	0.491;0.444	T	0.74355	-0.3692	10	0.54805	T	0.06	-18.1451	15.3752	0.74598	0.0:0.0:1.0:0.0	.	79;79	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	V	79	ENSP00000377612:G79V;ENSP00000267113:G79V;ENSP00000445952:G79V	ENSP00000267113:G79V	G	+	2	0	ESYT1	54808606	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	2.172000	0.42463	2.709000	0.92574	0.561000	0.74099	GGT		0.667	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		T	56522339	G	T	56522339	3	4	5	1	0	0	0	0	1	0	0	0	5264	1261	44	3	238	3	ESYT1	12	56522339	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	47291919	56522339	77329556	91	309											
SLC6A15	55117	hgsc.bcm.edu	37	12	85285812	85285812	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr12:85285812C>T	ENST00000266682.5	-	2	629	c.88G>A	c.(88-90)Gct>Act	p.A30T	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000450363.3_Missense_Mutation_p.A30T	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	30					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.A30T(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GCATCATCAGCTGCGTCTTCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											233	215	221					12																	85285812		2203	4300	6503	83809943	SO:0001583	missense	55117			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.88G>A	12.37:g.85285812C>T	ENSP00000266682:p.Ala30Thr		83809943	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992313	0.35131	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	T;T;T	0.72942	-0.7;-0.38;0.95	5.44	5.44	0.79542	.	0.242929	0.42964	D	0.000637	T	0.62356	0.2421	L	0.44542	1.39	0.21782	N	0.999545	B;B	0.20550	0.046;0.005	B;B	0.23275	0.045;0.027	T	0.45614	-0.9249	10	0.14252	T	0.57	.	15.3462	0.74340	0.1481:0.8519:0.0:0.0	.	30;30	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	T	30	ENSP00000266682:A30T;ENSP00000390706:A30T;ENSP00000448308:A30T	ENSP00000266682:A30T	A	-	1	0	SLC6A15	83809943	0.594000	0.26849	1.000000	0.80357	0.960000	0.62799	1.284000	0.33249	2.702000	0.92279	0.591000	0.81541	GCT		0.403	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		T	85285812	C	T	85285812	3	4	5	1	0	0	0	0	1	0	0	0	14681	797	28	2	2262	2	SLC6A15	12	85285812	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	28763473	85285812	48566083	92	310											
FGD6	55785	hgsc.bcm.edu	37	12	95566398	95566398	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr12:95566398G>T	ENST00000343958.4	-	3	2787	c.2564C>A	c.(2563-2565)cCt>cAt	p.P855H	FGD6_ENST00000549499.1_Missense_Mutation_p.P855H|FGD6_ENST00000546711.1_Missense_Mutation_p.P855H	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	855					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.P855H(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CAGTGGGTCAGGCTCTCCTTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											206	202	203					12																	95566398		2203	4300	6503	94090529	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2564C>A	12.37:g.95566398G>T	ENSP00000344446:p.Pro855His		94090529	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	8.823	0.938094	0.18206	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.69685	-0.31;-0.42;-0.34	5.94	4.12	0.48240	Dbl homology (DH) domain (2);	0.150261	0.31335	N	0.007827	T	0.72748	0.3499	M	0.62723	1.935	0.30940	N	0.725907	D	0.76494	0.999	P	0.59703	0.862	T	0.73582	-0.3937	10	0.52906	T	0.07	-7.4924	8.051	0.30577	0.177:0.0:0.823:0.0	.	855	Q6ZV73	FGD6_HUMAN	H	855	ENSP00000344446:P855H;ENSP00000450342:P855H;ENSP00000449005:P855H	ENSP00000344446:P855H	P	-	2	0	FGD6	94090529	1.000000	0.71417	0.996000	0.52242	0.457000	0.32468	2.854000	0.48325	1.520000	0.48965	0.561000	0.74099	CCT		0.428	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		T	95566398	G	T	95566398	3	4	5	1	0	0	0	0	1	0	0	0	5837	1000	35	3	1804	3	FGD6	12	95566398	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	10280586	95566398	38285497	93	311											
NOS1	4842	hgsc.bcm.edu	37	12	117726007	117726007	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr12:117726007C>G	ENST00000338101.4	-	4	1003	c.999G>C	c.(997-999)gaG>gaC	p.E333D	NOS1_ENST00000344089.3_Missense_Mutation_p.S352T|NOS1_ENST00000317775.6_Missense_Mutation_p.E333D			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.E333D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGCAGATGTACTCAGTGCATC	0.512																																					Esophageal Squamous(162;1748 2599 51982 52956)											1	Substitution - Missense(1)	ovary(1)	12											114	111	112					12																	117726007		1968	4161	6129	116210390	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.999G>C	12.37:g.117726007C>G	ENSP00000337459:p.Glu333Asp		116210390		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.44|10.44	1.351123|1.351123	0.24512|0.24512	.|.	.|.	ENSG00000089250|ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101|ENST00000344089	T;T|T	0.44083|0.07216	0.93;0.93|3.21	5.93|5.93	3.08|3.08	0.35506|0.35506	Nitric oxide synthase, oxygenase domain (2);|.	0.104108|.	0.64402|.	D|.	0.000005|.	T|T	0.14527|0.14527	0.0351|0.0351	M|M	0.61703|0.61703	1.905|1.905	0.20196|0.20196	N|N	0.99993|0.99993	B|.	0.15141|.	0.012|.	B|.	0.13407|.	0.009|.	T|T	0.11084|0.11084	-1.0602|-1.0602	10|7	0.22706|0.87932	T|D	0.39|0	-20.8517|-20.8517	7.048|7.048	0.25056|0.25056	0.0:0.6778:0.1237:0.1986|0.0:0.6778:0.1237:0.1986	.|.	333|.	P29475|.	NOS1_HUMAN|.	D|T	333|352	ENSP00000320758:E333D;ENSP00000337459:E333D|ENSP00000339862:S352T	ENSP00000320758:E333D|ENSP00000339862:S352T	E|S	-|-	3|2	2|0	NOS1|NOS1	116210390|116210390	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.762000|0.762000	0.43233|0.43233	1.588000|1.588000	0.36633|0.36633	0.837000|0.837000	0.34925|0.34925	0.563000|0.563000	0.77884|0.77884	GAG|AGT		0.512	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			G	117726007	C	G	117726007	3	3	5	1	0	0	0	0	1	0	0	0	10541	564	20	3	3405	3	NOS1	12	117726007	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	22159609	117726007	16125888	94	312											
GJB6	10804	hgsc.bcm.edu	37	13	20797042	20797042	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr13:20797042A>T	ENST00000356192.6	-	5	1198	c.578T>A	c.(577-579)aTt>aAt	p.I193N	GJB6_ENST00000400065.3_Missense_Mutation_p.I193N|GJB6_ENST00000400066.3_Missense_Mutation_p.I193N|GJB6_ENST00000241124.6_Missense_Mutation_p.I193N	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	193					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)		p.I193N(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AATCATAAAAATGGTAAACAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	13											80	71	74					13																	20797042		2203	4300	6503	19695042	SO:0001583	missense	10804			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.578T>A	13.37:g.20797042A>T	ENSP00000348521:p.Ile193Asn		19695042	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.164537	0.38217	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.45	5.45	0.79879	Gap junction protein, cysteine-rich domain (1);	0.497156	0.18713	N	0.133230	D	0.96744	0.8937	M	0.63208	1.945	0.43874	D	0.996481	D	0.69078	0.997	D	0.73380	0.98	D	0.96582	0.9431	10	0.87932	D	0	.	10.7156	0.46011	0.8577:0.0:0.0:0.1423	.	193	O95452	CXB6_HUMAN	N	193	ENSP00000241124:I193N;ENSP00000382938:I193N;ENSP00000382939:I193N;ENSP00000348521:I193N	ENSP00000241124:I193N	I	-	2	0	GJB6	19695042	1.000000	0.71417	0.205000	0.23548	0.026000	0.11368	7.282000	0.78630	2.059000	0.61396	0.533000	0.62120	ATT		0.478	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			T	20797042	A	T	20797042	3	4	5	1	0	0	0	0	1	0	0	0	6412	101	4	5	211	5	GJB6	13	20797042	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10		20797042	94372836	95	313											
CHD8	57680	hgsc.bcm.edu	37	14	21875049	21875049	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr14:21875049C>T	ENST00000557364.1	-	14	3136	c.2873G>A	c.(2872-2874)tGc>tAc	p.C958Y	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.C679Y|CHD8_ENST00000399982.2_Missense_Mutation_p.C958Y			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	958	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.C958Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGCAGCTTGCAATTACGGTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	14											91	84	86					14																	21875049		1960	4149	6109	20944889	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2873G>A	14.37:g.21875049C>T	ENSP00000451601:p.Cys958Tyr		20944889	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653665	0.88056	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.92858	-3.12;-3.12;-3.12	5.21	5.21	0.72293	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95695	0.8600	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95892	0.8908	10	0.87932	D	0	-15.8407	17.6936	0.88276	0.0:1.0:0.0:0.0	.	958;679	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	Y	679;958;678;958	ENSP00000406288:C679Y;ENSP00000382863:C958Y;ENSP00000451601:C958Y	ENSP00000262707:C678Y	C	-	2	0	CHD8	20944889	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.841000	0.69409	2.711000	0.92665	0.561000	0.74099	TGC		0.423	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		T	21875049	C	T	21875049	3	4	5	1	0	0	0	0	1	0	0	0	3331	710	25	2	4972	2	CHD8	14	21875049	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10		21875049	85474491	96	314											
RIPK3	11035	hgsc.bcm.edu	37	14	24807486	24807486	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr14:24807486C>T	ENST00000216274.5	-	5	851	c.633G>A	c.(631-633)atG>atA	p.M211I	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)	p.M211I(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GCACTGCCCACATTAGGATCC	0.532																																					Pancreas(58;918 1191 4668 13304 15331)											1	Substitution - Missense(1)	ovary(1)	14											94	94	94					14																	24807486		2203	4300	6503	23877326	SO:0001583	missense	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.633G>A	14.37:g.24807486C>T	ENSP00000216274:p.Met211Ile		23877326	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593310	0.28357	.	.	ENSG00000129465	ENST00000216274	T	0.62941	-0.01	4.07	3.16	0.36331	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.618655	0.15423	N	0.263108	T	0.36552	0.0971	N	0.05510	-0.035	0.24403	N	0.994699	B	0.22909	0.077	B	0.22152	0.038	T	0.14783	-1.0460	10	0.31617	T	0.26	-11.465	5.4122	0.16354	0.1971:0.6991:0.0:0.1038	.	211	Q9Y572	RIPK3_HUMAN	I	211	ENSP00000216274:M211I	ENSP00000216274:M211I	M	-	3	0	RIPK3	23877326	0.095000	0.21747	0.993000	0.49108	0.807000	0.45602	0.024000	0.13555	1.293000	0.44690	0.655000	0.94253	ATG		0.532	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		T	24807486	C	T	24807486	3	4	5	1	0	0	0	0	1	0	0	0	13385	478	17	2	947	2	RIPK3	14	24807486	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	2932437	24807486	82542054	97	315											
ENTPD5	957	hgsc.bcm.edu	37	14	74449771	74449771	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr14:74449771C>G	ENST00000334696.6	-	6	710	c.391G>C	c.(391-393)Gca>Cca	p.A131P	ENTPD5_ENST00000557325.1_Missense_Mutation_p.A131P	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	131					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)	p.A131P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CGTAGTCCTGCTGTTGCCTTT	0.483																																																1	Substitution - Missense(1)	ovary(1)	14											241	222	229					14																	74449771		2203	4300	6503	73519524	SO:0001583	missense	957			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.391G>C	14.37:g.74449771C>G	ENSP00000335246:p.Ala131Pro		73519524	A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498826	0.85069	.	.	ENSG00000187097	ENST00000557325;ENST00000334696;ENST00000553284	T;T;T	0.37584	1.19;1.19;1.19	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84419	0.0570	10	0.72032	D	0.01	-13.0948	16.2422	0.82418	0.0:1.0:0.0:0.0	.	131;131	O75356;G3V4I0	ENTP5_HUMAN;.	P	131	ENSP00000451810:A131P;ENSP00000335246:A131P;ENSP00000451591:A131P	ENSP00000335246:A131P	A	-	1	0	ENTPD5	73519524	1.000000	0.71417	0.978000	0.43139	0.703000	0.40648	6.469000	0.73555	2.593000	0.87608	0.655000	0.94253	GCA		0.483	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		G	74449771	C	G	74449771	3	3	5	1	0	0	0	0	1	0	0	0	5142	797	28	3	939	3	ENTPD5	14	74449771	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	49642285	74449771	32899769	98	316											
SPG11	80208	hgsc.bcm.edu	37	15	44912464	44912464	+	Silent	SNP	G	G	A	rs200338880		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr15:44912464G>A	ENST00000261866.7	-	15	2774	c.2758C>T	c.(2758-2760)Ctg>Ttg	p.L920L	SPG11_ENST00000558319.1_Silent_p.L920L|SPG11_ENST00000427534.2_Silent_p.L920L|SPG11_ENST00000535302.2_Silent_p.L920L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	920					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.L920L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCAACAGTCAGAAGGGGCCAT	0.378													G|||	1	0.000199681	0	0	5008	,	,		15682	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	15											144	131	136					15																	44912464		2198	4298	6496	42699756	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2758C>T	15.37:g.44912464G>A			42699756	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.378	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44912464	G	A	44912464	2	1	5	1	0	0	0	0	0	0	0	1	15043	933	33	2		2	SPG11	15	44912464	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10		44912464	57618928	99	317											
ANXA2	302	hgsc.bcm.edu	37	15	60674597	60674598	+	Frame_Shift_Ins	INS	-	-	TATA			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr15:60674597_60674598insTATA	ENST00000396024.3	-	4	250_251	c.91_92insTATA	c.(91-93)actfs	p.T31fs	ANXA2_ENST00000451270.2_Frame_Shift_Ins_p.T31fs|ANXA2_ENST00000421017.2_Frame_Shift_Ins_p.T31fs|ANXA2_ENST00000332680.4_Frame_Shift_Ins_p.T49fs|ANXA2_ENST00000557937.1_5'UTR	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	31					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.T49fs*3(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	ATCAAAGTTAGTATAGGCTTTG	0.406																																																1	Insertion - Frameshift(1)	ovary(1)	15																																								58461890	SO:0001589	frameshift_variant	302			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.88_91dupTATA	15.37:g.60674598_60674601dupTATA	ENSP00000379342:p.Thr31fs		58461889	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Frame_Shift_Ins	INS	ENST00000396024.3	37	CCDS10175.1																																																																																				0.406	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		TATA	60674598	-	TATA	60674597	7	5	5	1	0	1	1	0	0	0	0	0	718	1029	36	0	971	0	ANXA2	15	60674597	Frame_Shift_Ins	INS	-	TCGA-04-1338-01A-01W-0484-10	15762133	60674597	41856795	100	318											
BNC1	646	hgsc.bcm.edu	37	15	83932824	83932824	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr15:83932824G>T	ENST00000345382.2	-	4	1264	c.1179C>A	c.(1177-1179)aaC>aaA	p.N393K	BNC1_ENST00000569704.1_Missense_Mutation_p.N386K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	393					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N393K(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGAACACCATGTTACACCCTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	15											155	141	146					15																	83932824		2203	4300	6503	81723828	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1179C>A	15.37:g.83932824G>T	ENSP00000307041:p.Asn393Lys		81723828	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203808	0.58234	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.28255	1.62	5.75	4.65	0.58169	Zinc finger, C2H2-like (1);	0.138847	0.64402	D	0.000007	T	0.54464	0.1860	M	0.78801	2.425	0.53688	D	0.999979	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.57516	-0.7798	10	0.87932	D	0	-49.6156	11.6579	0.51328	0.1902:0.0:0.8098:0.0	.	386;393	F5GY04;Q01954	.;BNC1_HUMAN	K	393;386	ENSP00000307041:N393K	ENSP00000307041:N393K	N	-	3	2	BNC1	81723828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.724000	0.38064	2.716000	0.92895	0.655000	0.94253	AAC		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		T	83932824	G	T	83932824	3	4	5	1	0	0	0	0	1	0	0	0	1474	1368	48	3	1813	3	BNC1	15	83932824	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	23258227	83932824	18598568	101	319											
C15orf42	90381	hgsc.bcm.edu	37	15	90145159	90145159	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr15:90145159A>C	ENST00000268138.7	+	12	2624	c.2519A>C	c.(2518-2520)gAa>gCa	p.E840A	TICRR_ENST00000560985.1_Missense_Mutation_p.E839A			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	840					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E840A(1)									GGCAGCCCTGAATCTGATGAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	15											101	92	95					15																	90145159		1908	4127	6035	87946163	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2519A>C	15.37:g.90145159A>C	ENSP00000268138:p.Glu840Ala		87946163	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	15.73	2.918553	0.52546	.	.	ENSG00000140534	ENST00000268138	T	0.15718	2.4	5.76	5.76	0.90799	.	0.364300	0.31909	N	0.006865	T	0.29588	0.0738	L	0.55834	1.745	0.33059	D	0.533774	P	0.49559	0.925	P	0.52159	0.691	T	0.30327	-0.9982	10	0.41790	T	0.15	-6.5289	16.3634	0.83296	1.0:0.0:0.0:0.0	.	840	Q7Z2Z1	TICRR_HUMAN	A	840	ENSP00000268138:E840A	ENSP00000268138:E840A	E	+	2	0	C15orf42	87946163	0.995000	0.38212	0.223000	0.23860	0.292000	0.27327	3.980000	0.56895	2.324000	0.78689	0.533000	0.62120	GAA		0.408	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		C	90145159	A	C	90145159	3	2	5	1	0	0	0	0	1	0	0	0	1796	246	9	5	2565	5	C15orf42	15	90145159	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	6212335	90145159	12386233	102	320											
OR4F4	26682	hgsc.bcm.edu	37	15	102463187	102463188	+	Frame_Shift_Ins	INS	-	-	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr15:102463187_102463188insA	ENST00000326183.3	-	1	110_111	c.75_76insT	c.(73-78)tttgtafs	p.V26fs		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V26fs*20(1)		ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCATAGAATACAAAAAACAACA	0.406																																																1	Insertion - Frameshift(1)	ovary(1)	15																																								100280711	SO:0001589	frameshift_variant	26682				CCDS32343.1	15q26.3	2012-08-09			ENSG00000177693	ENSG00000177693		"GPCR / Class A : Olfactory receptors"	8301	protein-coding gene	gene with protein product							Standard	NM_001004195		Approved	OR4F18	uc002cdf.1	Q96R69		ENST00000326183.3:c.76dupT	15.37:g.102463193_102463193dupA	ENSP00000317482:p.Val26fs		100280710	B2RNI5|Q6IFN9	Frame_Shift_Ins	INS	ENST00000326183.3	37	CCDS32343.1																																																																																				0.406	OR4F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417599.1	NM_001004195		A	102463188	-	A	102463187	7	5	5	1	0	1	1	0	0	0	0	0	11064	478	17	0	845	0	OR4F4	15	102463187	Frame_Shift_Ins	INS	-	TCGA-04-1338-01A-01W-0484-10	12318028	102463187	68205	103	321											
CCNF	899	hgsc.bcm.edu	37	16	2495506	2495506	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr16:2495506T>C	ENST00000397066.4	+	10	1065	c.977T>C	c.(976-978)tTc>tCc	p.F326S		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	326	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.F326S(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ATGAAGGACTTCACAAGCCTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	16											107	72	84					16																	2495506		2198	4300	6498	2435507	SO:0001583	missense	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.977T>C	16.37:g.2495506T>C	ENSP00000380256:p.Phe326Ser		2435507	B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.824045	0.90873	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.12039	2.72	5.5	5.5	0.81552	Cyclin, N-terminal (2);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.41233	-0.9520	10	0.87932	D	0	-34.5098	14.4299	0.67243	0.0:0.0:0.0:1.0	.	326	P41002	CCNF_HUMAN	S	326;241	ENSP00000380256:F326S	ENSP00000293968:F241S	F	+	2	0	CCNF	2435507	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	7.754000	0.85163	2.090000	0.63153	0.455000	0.32223	TTC		0.617	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		C	2495506	T	C	2495506	3	2	5	1	0	0	0	0	1	0	0	0	2922	1783	62	4	1015	4	CCNF	16	2495506	Missense_Mutation	SNP	T	TCGA-04-1338-01A-01W-0484-10		2495506	87859247	104	322											
CREBBP	1387	hgsc.bcm.edu	37	16	3789724	3789724	+	Splice_Site	SNP	A	A	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr16:3789724A>C	ENST00000262367.5	-	25	4944	c.4135T>G	c.(4135-4137)Ttt>Gtt	p.F1379V	CREBBP_ENST00000382070.3_Splice_Site_p.F1341V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1379	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.F1379V(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAATCCACAAACCTGAAACAA	0.473			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	ovary(1)	16											59	57	58					16																	3789724		2197	4300	6497	3729725	SO:0001630	splice_region_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4134-1T>G	16.37:g.3789724A>C			3729725	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	20.6	4.022932	0.75275	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93659	-3.26;-3.26	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.996	D	0.98645	1.0677	10	0.87932	D	0	-12.0421	15.969	0.79998	1.0:0.0:0.0:0.0	.	1409;1379	Q4LE28;Q92793	.;CBP_HUMAN	V	1379;1409;1341	ENSP00000262367:F1379V;ENSP00000371502:F1341V	ENSP00000262367:F1379V	F	-	1	0	CREBBP	3729725	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.210000	0.95106	2.234000	0.73211	0.459000	0.35465	TTT		0.473	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	Missense_Mutation	C	3789724	A	C	3789724	5	2	5	1	0	0	0	0	0	0	1	0	3861	57	2	5	3221	5	CREBBP	16	3789724	Splice_Site	SNP	A	TCGA-04-1338-01A-01W-0484-10	1294218	3789724	86565029	105	323											
OTOA	146183	hgsc.bcm.edu	37	16	21739658	21739658	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr16:21739658G>A	ENST00000286149.4	+	19	2156	c.2155G>A	c.(2155-2157)Gct>Act	p.A719T	OTOA_ENST00000388958.3_Missense_Mutation_p.A705T|OTOA_ENST00000388957.3_Missense_Mutation_p.A381T|OTOA_ENST00000388956.4_Missense_Mutation_p.A626T			Q7RTW8	OTOAN_HUMAN	otoancorin	719					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.A705T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCCCCCAGGGCTTGGGCGAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	16											85	76	79					16																	21739658		2198	4300	6498	21647159	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2155G>A	16.37:g.21739658G>A	ENSP00000286149:p.Ala719Thr		21647159	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	G	14.88	2.668628	0.47677	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	T;T;T;T	0.74421	-0.74;-0.72;-0.74;-0.84	5.29	5.29	0.74685	.	0.085674	0.52532	D	0.000080	T	0.74442	0.3717	M	0.64997	1.995	0.45427	D	0.998402	P;P;P;P	0.49783	0.89;0.89;0.928;0.89	B;B;P;B	0.45428	0.396;0.396;0.48;0.396	T	0.75587	-0.3266	10	0.40728	T	0.16	-15.7776	14.4211	0.67183	0.0:0.0:1.0:0.0	.	719;626;381;705	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	T	705;719;626;381;114	ENSP00000373610:A705T;ENSP00000286149:A719T;ENSP00000373608:A626T;ENSP00000373609:A381T	ENSP00000286149:A719T	A	+	1	0	OTOA	21647159	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	5.308000	0.65768	2.457000	0.83068	0.655000	0.94253	GCT		0.592	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			A	21739658	G	A	21739658	3	1	5	1	0	0	0	0	1	0	0	0	11302	1203	42	2	2233	2	OTOA	16	21739658	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	17949934	21739658	68615095	106	324											
N4BP1	9683	hgsc.bcm.edu	37	16	48595734	48595734	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr16:48595734C>G	ENST00000262384.3	-	2	1056	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	274					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.E274Q(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GAAAGTGCCTCTTCATCTGGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	16											65	62	63					16																	48595734		1859	4091	5950	47153235	SO:0001583	missense	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.820G>C	16.37:g.48595734C>G	ENSP00000262384:p.Glu274Gln		47153235	A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	6.349	0.432453	0.12045	.	.	ENSG00000102921	ENST00000262384	T	0.45668	0.89	5.75	5.75	0.90469	.	0.388557	0.26995	N	0.021455	T	0.27241	0.0668	N	0.24115	0.695	0.22571	N	0.998975	P	0.39391	0.671	B	0.32289	0.143	T	0.21793	-1.0235	10	0.31617	T	0.26	-5.8783	14.1449	0.65344	0.0:0.9287:0.0:0.0713	.	274	O75113	N4BP1_HUMAN	Q	274	ENSP00000262384:E274Q	ENSP00000262384:E274Q	E	-	1	0	N4BP1	47153235	0.992000	0.36948	0.990000	0.47175	0.050000	0.14768	1.525000	0.35953	2.719000	0.93026	0.655000	0.94253	GAG		0.408	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		G	48595734	C	G	48595734	3	3	5	1	0	0	0	0	1	0	0	0	10109	922	32	3	1894	3	N4BP1	16	48595734	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	26856076	48595734	41759019	107	325											
CDH11	1009	hgsc.bcm.edu	37	16	64981959	64981959	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr16:64981959T>A	ENST00000268603.4	-	13	2553	c.1938A>T	c.(1936-1938)gaA>gaT	p.E646D	CDH11_ENST00000566827.1_Missense_Mutation_p.E520D|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	646					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E646D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAATGAGTGGTTCTTTCTTTT	0.418			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	1	Substitution - Missense(1)	ovary(1)	16											81	76	78					16																	64981959		2203	4300	6503	63539460	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1938A>T	16.37:g.64981959T>A	ENSP00000268603:p.Glu646Asp		63539460	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.331963	0.41297	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.77229	-1.08	5.61	0.776	0.18532	Cadherin, cytoplasmic domain (1);	0.105878	0.64402	D	0.000002	T	0.74550	0.3731	L	0.58810	1.83	0.52501	D	0.999956	P	0.39022	0.655	B	0.43018	0.405	T	0.71227	-0.4655	10	0.66056	D	0.02	.	10.1368	0.42712	0.0:0.363:0.0:0.637	.	646	P55287	CAD11_HUMAN	D	646;629	ENSP00000268603:E646D	ENSP00000268603:E646D	E	-	3	2	CDH11	63539460	0.992000	0.36948	0.997000	0.53966	0.984000	0.73092	0.285000	0.18883	-0.141000	0.11374	0.533000	0.62120	GAA		0.418	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		A	64981959	T	A	64981959	3	1	5	1	0	0	0	0	1	0	0	0	3097	1722	60	5	456	5	CDH11	16	64981959	Missense_Mutation	SNP	T	TCGA-04-1338-01A-01W-0484-10	16386225	64981959	25372794	108	326											
PLA2G15	23659	hgsc.bcm.edu	37	16	68283281	68283281	+	Silent	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr16:68283281C>T	ENST00000219345.5	+	2	299	c.216C>T	c.(214-216)taC>taT	p.Y72Y	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000568599.1_3'UTR|PLA2G15_ENST00000566188.1_Silent_p.Y72Y	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	72					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.Y72Y(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCGAAAGCTACTTCACAATCT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	16											128	99	109					16																	68283281		2198	4300	6498	66840782	SO:0001819	synonymous_variant	23659			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.216C>T	16.37:g.68283281C>T			66840782	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	CCDS10864.1																																																																																				0.562	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		T	68283281	C	T	68283281	2	4	5	1	0	0	0	0	0	0	0	1	11992	576	20	2		2	PLA2G15	16	68283281	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	3301322	68283281	22071472	109	327											
GABARAPL2	11345	hgsc.bcm.edu	37	16	75611250	75611250	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr16:75611250A>G	ENST00000037243.2	+	4	473	c.337A>G	c.(337-339)Aac>Gac	p.N113D	RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000568455.1_Missense_Mutation_p.N53D|GABARAPL2_ENST00000563744.1_3'UTR|GABARAPL2_ENST00000565985.1_3'UTR	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	113					autophagy (GO:0006914)|intra-Golgi vesicle-mediated transport (GO:0006891)|negative regulation of proteasomal protein catabolic process (GO:1901799)|positive regulation of ATPase activity (GO:0032781)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular (GO:0005622)	ATPase binding (GO:0051117)|beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)|microtubule binding (GO:0008017)|SNARE binding (GO:0000149)	p.N113D(1)		lung(1)|ovary(1)	2						CAGCGGAGAGAACACTTTTGG	0.423																																																1	Substitution - Missense(1)	ovary(1)	16											119	123	122					16																	75611250		2198	4300	6498	74168751	SO:0001583	missense	11345			AF087848	CCDS10921.1	16q22.1	2014-02-12			ENSG00000034713	ENSG00000034713			13291	protein-coding gene	gene with protein product		607452				11414770	Standard	NM_007285		Approved	GEF2, ATG8, GATE16, GATE-16, ATG8C	uc002fen.3	P60520	OTTHUMG00000137613	ENST00000037243.2:c.337A>G	16.37:g.75611250A>G	ENSP00000037243:p.Asn113Asp		74168751	O08765|Q6FG91|Q9DCP8|Q9UQF7	Missense_Mutation	SNP	ENST00000037243.2	37	CCDS10921.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.947562	0.92593	.	.	ENSG00000034713	ENST00000037243	T	0.44482	0.92	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.71036	2.16	0.58432	D	0.999999	B	0.32245	0.361	B	0.40825	0.341	T	0.54180	-0.8332	10	0.62326	D	0.03	-31.976	15.6411	0.77001	1.0:0.0:0.0:0.0	.	113	P60520	GBRL2_HUMAN	D	113	ENSP00000037243:N113D	ENSP00000037243:N113D	N	+	1	0	GABARAPL2	74168751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.310000	0.96267	2.367000	0.80283	0.528000	0.53228	AAC		0.423	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269029.1	NM_007285		G	75611250	A	G	75611250	3	3	5	1	0	0	0	0	1	0	0	0	6154	246	9	4	351	4	GABARAPL2	16	75611250	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	7327969	75611250	14743503	110	328											
WFDC1	58189	hgsc.bcm.edu	37	16	84358028	84358028	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr16:84358028G>T	ENST00000219454.5	+	5	892	c.566G>T	c.(565-567)gGg>gTg	p.G189V	WFDC1_ENST00000568638.1_Missense_Mutation_p.G189V	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	189					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G189V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						TTTCCAGATGGGCGAATCCTA	0.363																																																1	Substitution - Missense(1)	ovary(1)	16											111	107	109					16																	84358028		2200	4300	6500	82915529	SO:0001583	missense	58189			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"WAP four-disulfide core domain containing"	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.566G>T	16.37:g.84358028G>T	ENSP00000219454:p.Gly189Val		82915529	D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411436	0.25465	.	.	ENSG00000103175	ENST00000219454	T	0.40225	1.04	4.55	3.59	0.41128	.	0.062472	0.64402	D	0.000005	T	0.49355	0.1552	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	T	0.51826	-0.8656	10	0.72032	D	0.01	-24.6957	11.721	0.51683	0.087:0.0:0.913:0.0	.	189	Q9HC57	WFDC1_HUMAN	V	189	ENSP00000219454:G189V	ENSP00000219454:G189V	G	+	2	0	WFDC1	82915529	1.000000	0.71417	0.840000	0.33206	0.306000	0.27790	3.823000	0.55715	1.272000	0.44329	0.650000	0.86243	GGG		0.363	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			T	84358028	G	T	84358028	3	4	5	1	0	0	0	0	1	0	0	0	17346	1232	43	3	584	3	WFDC1	16	84358028	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	8746778	84358028	5996725	111	329											
TRPV3	162514	hgsc.bcm.edu	37	17	3427614	3427614	+	Silent	SNP	A	A	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr17:3427614A>G	ENST00000576742.1	-	13	1942	c.1621T>C	c.(1621-1623)Ttg>Ctg	p.L541L	TRPV3_ENST00000572519.1_Silent_p.L541L|TRPV3_ENST00000301365.4_Silent_p.L541L	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	541					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.L541L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TAGGCAAACAAGTACAAGAAG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	17											118	107	111					17																	3427614		2203	4300	6503	3374364	SO:0001819	synonymous_variant	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1621T>C	17.37:g.3427614A>G			3374364	Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	CCDS11029.1																																																																																				0.527	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		G	3427614	A	G	3427614	2	3	5	1	0	0	0	0	0	0	0	1	16597	69	3	4		4	TRPV3	17	3427614	Silent	SNP	A	TCGA-04-1338-01A-01W-0484-10		3427614	77767596	112	330											
RABEP1	9135	hgsc.bcm.edu	37	17	5286419	5286419	+	Silent	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr17:5286419G>A	ENST00000546142.2	+	18	2677	c.2490G>A	c.(2488-2490)gtG>gtA	p.V830V	RABEP1_ENST00000341923.6_Silent_p.V797V|RABEP1_ENST00000537505.1_Silent_p.V787V|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.V797V|RABEP1_ENST00000262477.6_Silent_p.V830V			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	830					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.V830V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TTCTCCAGGTGCAGTTAGAGC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	17											66	70	69					17																	5286419		2138	4294	6432	5227143	SO:0001819	synonymous_variant	9135			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2490G>A	17.37:g.5286419G>A			5227143	B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	CCDS45592.1																																																																																				0.463	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		A	5286419	G	A	5286419	2	1	5	1	0	0	0	0	0	0	0	1	12964	1306	46	2		2	RABEP1	17	5286419	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10	1858805	5286419	75908791	113	331											
TP53	7157	hgsc.bcm.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	17	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	7518273	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser		7518273	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577548	C	T	7577548	3	4	5	1	0	0	0	0	1	0	0	0	16381	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	2291129	7577548	73617662	114	332											
SPDYE4	388333	hgsc.bcm.edu	37	17	8661674	8661682	+	In_Frame_Del	DEL	CGGGGGGCG	CGGGGGGCG	-	rs528196076|rs571433068|rs371237439	byFrequency	TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	CGGGGGGCG	CGGGGGGCG	CGGGGGGCG	-	CGGGGGGCG	CGGGGGGCG	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr17:8661674_8661682delCGGGGGGCG	ENST00000328794.6	-	1	195_203	c.19_27delCGCCCCCCG	c.(19-27)cgccccccgdel	p.RPP7del		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	7										breast(1)|endometrium(2)|kidney(1)	4						CCTCCTCAAACGGGGGGCGCGCTTGACCA	0.569																																																0			17																																								8602407	SO:0001651	inframe_deletion	388333			BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"Speedy homologs"	35463	protein-coding gene	gene with protein product			"speedy homolog E4 (Xenopus laevis)"				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.19_27delCGCCCCCCG	17.37:g.8661674_8661682delCGGGGGGCG	ENSP00000329522:p.Arg7_Pro9del		8602399	B2RUZ6	In_Frame_Del	DEL	ENST00000328794.6	37	CCDS45609.1																																																																																				0.569	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		-	8661682	CGGGGGGCG	-	8661674	7	5	5	1	0	1	0	1	0	0	0	0	15033	523	19	0	710	0	SPDYE4	17	8661674	In_Frame_Del	DEL	CGGGGGGCG	TCGA-04-1338-01A-01W-0484-10	1084126	8661674	72533536	115	333											
MYO18A	399687	hgsc.bcm.edu	37	17	27419382	27419382	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr17:27419382G>C	ENST00000527372.1	-	34	5346	c.5166C>G	c.(5164-5166)gaC>gaG	p.D1722E	MYO18A_ENST00000354329.4_Missense_Mutation_p.D1722E|TIAF1_ENST00000408971.2_5'Flank|MYO18A_ENST00000533112.1_Missense_Mutation_p.D1685E|MYO18A_ENST00000529578.1_5'Flank|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1722E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1722					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.D1722E(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTTTGGCGATGTCATCAATCT	0.607																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											1	Substitution - Missense(1)	ovary(1)	17											49	54	52					17																	27419382		2195	4288	6483	24443508	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5166C>G	17.37:g.27419382G>C	ENSP00000437073:p.Asp1722Glu		24443508	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793952	0.50102	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.82255	-0.82;-1.59;-0.82;-0.82	5.2	4.23	0.50019	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.81427	0.4820	L	0.28694	0.88	0.33317	D	0.566851	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.976	T	0.77867	-0.2428	10	0.02654	T	1	.	9.367	0.38230	0.1677:0.0:0.8323:0.0	.	1325;1685;1722;1722	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	E	1722;1685;1685;1722;1722;618;618;1325	ENSP00000346291:D1722E;ENSP00000435932:D1685E;ENSP00000434228:D1722E;ENSP00000437073:D1722E	ENSP00000346291:D1722E	D	-	3	2	MYO18A	24443508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.562000	0.36353	1.332000	0.45431	0.591000	0.81541	GAC		0.607	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		C	27419382	G	C	27419382	3	2	5	1	0	0	0	0	1	0	0	0	10065	1368	48	3	1034	3	MYO18A	17	27419382	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	18757708	27419382	53775828	116	334											
HNF1B	6928	hgsc.bcm.edu	37	17	36091586	36091586	+	Splice_Site	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr17:36091586C>A	ENST00000225893.4	-	4	1406	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	HNF1B_ENST00000561193.1_Splice_Site_p.G323*|HNF1B_ENST00000560016.1_Splice_Site_p.G349*|HNF1B_ENST00000427275.2_Splice_Site_p.G323*	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	349					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G349*(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CTTTGCTTACCTGACAGCTTG	0.567																																					Colon(71;102 1179 9001 27917 43397)											1	Substitution - Nonsense(1)	ovary(1)	17											70	56	61					17																	36091586		2201	4300	6501	33165699	SO:0001630	splice_region_variant	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1045+1G>T	17.37:g.36091586C>A			33165699	B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	C	37	6.630111	0.97718	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	.	.	.	5.21	5.21	0.72293	.	0.151781	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-22.459	17.4802	0.87671	0.0:1.0:0.0:0.0	.	.	.	.	X	349;323;349;237	.	ENSP00000225893:G349X	G	-	1	0	HNF1B	33165699	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.172000	0.58243	2.717000	0.92951	0.655000	0.94253	GGA		0.567	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458	Nonsense_Mutation	A	36091586	C	A	36091586	5	1	5	1	0	0	0	0	0	0	1	0	7252	695	24	3	652	3	HNF1B	17	36091586	Splice_Site	SNP	C	TCGA-04-1338-01A-01W-0484-10	8672204	36091586	45103624	117	335											
MED24	9862	hgsc.bcm.edu	37	17	38182907	38182907	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr17:38182907G>A	ENST00000394128.2	-	18	1883	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F	SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Missense_Mutation_p.S588F|MED24_ENST00000501516.3_Missense_Mutation_p.S620F|MED24_ENST00000394126.1_Missense_Mutation_p.S626F|MED24_ENST00000356271.3_Missense_Mutation_p.S588F	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	601					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S601F(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TACCTGGATGGACTCGAAGGC	0.557											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	17											42	34	37					17																	38182907		2203	4300	6503	35436433	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1802C>T	17.37:g.38182907G>A	ENSP00000377686:p.Ser601Phe	876	35436433	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300985	0.40694	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000501516;ENST00000431269	T;T;T	0.46063	0.88;0.88;0.88	4.89	4.89	0.63831	Mediator complex, subunit Med24, N-terminal (1);	0.056540	0.64402	D	0.000001	T	0.47248	0.1435	L	0.34521	1.04	0.44330	D	0.997213	P;P;P;P;P	0.48998	0.899;0.899;0.899;0.918;0.899	P;P;P;P;P	0.52267	0.568;0.667;0.568;0.694;0.667	T	0.50338	-0.8840	10	0.62326	D	0.03	-22.7389	18.0862	0.89458	0.0:0.0:1.0:0.0	.	551;511;588;601;543	F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;MED24_HUMAN;.	F	601;601;601;551;588;543;72;511	ENSP00000377686:S601F;ENSP00000443344:S551F;ENSP00000377685:S588F	ENSP00000348610:S601F	S	-	2	0	MED24	35436433	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.514000	0.81750	2.245000	0.73994	0.655000	0.94253	TCC		0.557	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		A	38182907	G	A	38182907	3	1	5	1	0	0	0	0	1	0	0	0	9442	1174	41	2	1203	2	MED24	17	38182907	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	2091321	38182907	43012303	118	336											
KRT38	8687	hgsc.bcm.edu	37	17	39595593	39595593	+	Silent	SNP	G	G	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr17:39595593G>C	ENST00000246646.3	-	3	593	c.594C>G	c.(592-594)tcC>tcG	p.S198S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	198	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S198S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCTGGCGCAGGGAGCGCTCAC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	17											72	67	69					17																	39595593		2203	4300	6503	36849119	SO:0001819	synonymous_variant	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.594C>G	17.37:g.39595593G>C			36849119	A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																				0.627	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		C	39595593	G	C	39595593	2	2	5	1	0	0	0	0	0	0	0	1	8475	1219	43	3		3	KRT38	17	39595593	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10	1412686	39595593	41599617	119	337											
ABCA9	10350	hgsc.bcm.edu	37	17	67012439	67012439	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr17:67012439A>C	ENST00000340001.4	-	22	3205	c.2994T>G	c.(2992-2994)ttT>ttG	p.F998L	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.F998L|ABCA9_ENST00000370732.2_Missense_Mutation_p.F998L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	998					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F998L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTGACGAATTAAAAATTCCAA	0.328																																																1	Substitution - Missense(1)	ovary(1)	17											108	106	107					17																	67012439		2203	4300	6503	64524034	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2994T>G	17.37:g.67012439A>C	ENSP00000342216:p.Phe998Leu		64524034	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	0.397	-0.920274	0.02396	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86097	-2.07;-2.07	5.1	2.78	0.32641	.	0.493912	0.16964	N	0.192376	T	0.66268	0.2772	N	0.20357	0.565	0.36133	D	0.846278	B;B	0.13145	0.007;0.001	B;B	0.19666	0.026;0.02	T	0.56001	-0.8051	10	0.02654	T	1	.	2.0088	0.03483	0.578:0.1705:0.0883:0.1632	.	998;998	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	L	998;981;998;993	ENSP00000342216:F998L;ENSP00000359767:F998L	ENSP00000342216:F998L	F	-	3	2	ABCA9	64524034	0.949000	0.32298	0.967000	0.41034	0.023000	0.10783	0.326000	0.19646	0.239000	0.21243	0.482000	0.46254	TTT		0.328	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		C	67012439	A	C	67012439	3	2	5	1	0	0	0	0	1	0	0	0	39	359	13	5	1952	5	ABCA9	17	67012439	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	27416846	67012439	14182771	120	338											
ATP8B1	5205	hgsc.bcm.edu	37	18	55321238	55321238	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr18:55321238C>A	ENST00000283684.4	-	23	3000	c.3001G>T	c.(3001-3003)Ggg>Tgg	p.G1001W	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.G1001W			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1001					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G1001W(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCGAGCAGCCCCATGAGGAGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	18											114	82	93					18																	55321238		2203	4300	6503	53472236	SO:0001583	missense	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3001G>T	18.37:g.55321238C>A	ENSP00000283684:p.Gly1001Trp		53472236	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900944	0.92035	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.90563	-2.69;-2.69	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98936	1.0789	10	0.87932	D	0	.	19.5773	0.95450	0.0:1.0:0.0:0.0	.	1001	O43520	AT8B1_HUMAN	W	1001	ENSP00000283684:G1001W;ENSP00000445359:G1001W	ENSP00000283684:G1001W	G	-	1	0	ATP8B1	53472236	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.776000	0.85560	2.788000	0.95919	0.650000	0.86243	GGG		0.542	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		A	55321238	C	A	55321238	3	1	5	1	0	0	0	0	1	0	0	0	1194	623	22	3	774	3	ATP8B1	18	55321238	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10		55321238	22756010	121	339											
ZNF136	7695	hgsc.bcm.edu	37	19	12296714	12296714	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr19:12296714C>G	ENST00000343979.4	+	2	258	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.L40V(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CATGAGGAATCTGGCCTCTAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	19											82	76	78					19																	12296714		2203	4300	6503	12157714	SO:0001583	missense	7695			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.118C>G	19.37:g.12296714C>G	ENSP00000344162:p.Leu40Val		12157714		Missense_Mutation	SNP	ENST00000343979.4	37	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323994	0.41096	.	.	ENSG00000196646	ENST00000425827;ENST00000343979;ENST00000418338	T;T;T	0.69175	0.27;3.96;-0.38	1.22	0.147	0.14838	Krueppel-associated box (4);	.	.	.	.	T	0.78349	0.4269	M	0.84948	2.725	0.22001	N	0.999423	D	0.69078	0.997	D	0.76071	0.987	T	0.63703	-0.6577	9	0.59425	D	0.04	.	3.5437	0.07820	0.0:0.7313:0.0:0.2687	.	40	P52737	ZN136_HUMAN	V	8;40;8	ENSP00000403707:L8V;ENSP00000344162:L40V;ENSP00000397176:L8V	ENSP00000344162:L40V	L	+	1	2	ZNF136	12157714	0.004000	0.15560	0.632000	0.29296	0.718000	0.41266	0.013000	0.13310	0.090000	0.17273	-0.140000	0.14226	CTG		0.448	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		G	12296714	C	G	12296714	3	3	5	1	0	0	0	0	1	0	0	0	17726	912	32	3	124	3	ZNF136	19	12296714	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10		12296714	46832269	122	340											
CACNA1A	773	hgsc.bcm.edu	37	19	13323516	13323521	+	In_Frame_Del	DEL	CGGGGG	CGGGGG	-	rs540390772		TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	CGGGGG	CGGGGG	CGGGGG	-	CGGGGG	CGGGGG	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr19:13323516_13323521delCGGGGG	ENST00000360228.5	-	41	5973_5978	c.5974_5979delCCCCCG	c.(5974-5979)cccccgdel	p.PP1992del	CACNA1A_ENST00000573710.2_In_Frame_Del_p.PP1993del	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1993					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.P1994S(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGTTGGGGACGGGGGCTCCATGCGC	0.675																																																1	Substitution - Missense(1)	central_nervous_system(1)	19																																								13184521	SO:0001651	inframe_deletion	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5974_5979delCCCCCG	19.37:g.13323516_13323521delCGGGGG	ENSP00000353362:p.Pro1992_Pro1993del		13184516	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL	ENST00000360228.5	37	CCDS45998.1																																																																																				0.675	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		-	13323521	CGGGGG	-	13323516	7	5	5	1	0	1	0	1	0	0	0	0	2538	523	19	0	1569	0	CACNA1A	19	13323516	In_Frame_Del	DEL	CGGGGG	TCGA-04-1338-01A-01W-0484-10	1026802	13323516	45805467	123	341											
WDR88	126248	hgsc.bcm.edu	37	19	33628661	33628661	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr19:33628661A>T	ENST00000355868.3	+	2	431	c.355A>T	c.(355-357)Agt>Tgt	p.S119C	WDR88_ENST00000361680.2_Missense_Mutation_p.S119C|WDR88_ENST00000592765.1_Missense_Mutation_p.S119C	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	119								p.S119C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AAAGCTCCTCAGTGGCTCCTA	0.522																																																1	Substitution - Missense(1)	ovary(1)	19											99	86	91					19																	33628661		2203	4300	6503	38320501	SO:0001583	missense	126248			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.355A>T	19.37:g.33628661A>T	ENSP00000348129:p.Ser119Cys		38320501	Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676009	0.67928	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.72394	-0.65;-0.65	5.07	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	38.871000	0.00166	N	0.000000	D	0.87977	0.6314	M	0.92784	3.345	0.26204	N	0.979402	D	0.89917	1.0	D	0.77004	0.989	T	0.60326	-0.7285	10	0.62326	D	0.03	.	6.9823	0.24709	0.6951:0.0:0.0:0.3049	.	119	Q6ZMY6	WDR88_HUMAN	C	119	ENSP00000348129:S119C;ENSP00000355148:S119C	ENSP00000348129:S119C	S	+	1	0	WDR88	38320501	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.395000	0.44459	1.922000	0.55676	0.454000	0.30748	AGT		0.522	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		T	33628661	A	T	33628661	3	4	5	1	0	0	0	0	1	0	0	0	17335	188	7	5	361	5	WDR88	19	33628661	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	20305145	33628661	25500322	124	342											
CEACAM20	125931	hgsc.bcm.edu	37	19	45016138	45016138	+	RNA	SNP	T	T	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr19:45016138T>C	ENST00000454753.1	-	0	1793							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCAGGCTTTCTAGAAAAAGTG	0.512																																																0			19											40	38	39					19																	45016138		1970	4148	6118	49707978			125931			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45016138T>C			49707978		Splice_Site	SNP	ENST00000454753.1	37																																																																																					0.512	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		C	45016138	T	C	45016138	1	2	5	0	1	0	0	0	0	0	0	0	3191	1536	53	4		4	CEACAM20	19	45016138	RNA	SNP	T	TCGA-04-1338-01A-01W-0484-10	11387477	45016138	14112845	125	343											
TULP2	7288	hgsc.bcm.edu	37	19	49385314	49385314	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr19:49385314G>T	ENST00000221399.3	-	12	1566	c.1422C>A	c.(1420-1422)aaC>aaA	p.N474K		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	474					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.N474K(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CGATTTGGAAGTTCTTCACCG	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											140	113	122					19																	49385314		2203	4300	6503	54077126	SO:0001583	missense	7288			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1422C>A	19.37:g.49385314G>T	ENSP00000221399:p.Asn474Lys		54077126	Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583227	0.46006	.	.	ENSG00000104804	ENST00000221399;ENST00000522341	D;D	0.95885	-3.84;-3.84	4.62	3.45	0.39498	Tubby, C-terminal (4);Tubby, C-terminal, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	H	0.94886	3.595	0.50632	D	0.999886	D	0.89917	1.0	D	0.97110	1.0	D	0.97280	0.9917	10	0.87932	D	0	-38.4452	7.1723	0.25724	0.2184:0.0:0.7816:0.0	.	474	O00295	TULP2_HUMAN	K	474;23	ENSP00000221399:N474K;ENSP00000429131:N23K	ENSP00000221399:N474K	N	-	3	2	TULP2	54077126	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	0.895000	0.28363	1.145000	0.42336	0.650000	0.86243	AAC		0.542	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		T	49385314	G	T	49385314	3	4	5	1	0	0	0	0	1	0	0	0	16774	1020	36	3	148	3	TULP2	19	49385314	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	4369176	49385314	9743669	126	344											
PRKCG	5582	hgsc.bcm.edu	37	19	54395836	54395836	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr19:54395836G>A	ENST00000263431.3	+	7	1042	c.760G>A	c.(760-762)Gac>Aac	p.D254N	PRKCG_ENST00000542049.1_Missense_Mutation_p.D141N|PRKCG_ENST00000540413.1_Missense_Mutation_p.D254N|PRKCG_ENST00000536044.1_Missense_Mutation_p.D254N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	254	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.D254N(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CTCCCGCAACGACTTCATGGG	0.667																																																1	Substitution - Missense(1)	ovary(1)	19											56	45	49					19																	54395836		2203	4300	6503	59087648	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.760G>A	19.37:g.54395836G>A	ENSP00000263431:p.Asp254Asn		59087648	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601711	0.87055	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.11	4.11	0.48088	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.84602	0.5508	M	0.85945	2.785	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;0.995;1.0;0.996;0.991	D;P;D;D;P	0.78314	0.989;0.811;0.991;0.91;0.881	D	0.87639	0.2521	9	0.87932	D	0	.	14.2039	0.65721	0.0:0.0:1.0:0.0	.	141;254;254;254;254	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	N	254;254;254;141	ENSP00000440541:D254N;ENSP00000443493:D254N;ENSP00000263431:D254N;ENSP00000438090:D141N	ENSP00000263431:D254N	D	+	1	0	PRKCG	59087648	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.062000	0.93920	1.990000	0.58119	0.455000	0.32223	GAC		0.667	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		A	54395836	G	A	54395836	3	1	5	1	0	0	0	0	1	0	0	0	12515	1058	37	1	786	1	PRKCG	19	54395836	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	5010522	54395836	4733147	127	345											
SIRPD	128646	hgsc.bcm.edu	37	20	1532452	1532452	+	Silent	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr20:1532452G>T	ENST00000381623.3	-	2	1495	c.306C>A	c.(304-306)acC>acA	p.T102T	SIRPD_ENST00000381621.1_Silent_p.T102T			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	102	Ig-like V-type.					extracellular region (GO:0005576)		p.T102T(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CACGGATGCGGGTGGAAAAGT	0.463																																																1	Substitution - coding silent(1)	ovary(1)	20											162	159	160					20																	1532452		2203	4300	6503	1480452	SO:0001819	synonymous_variant	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.306C>A	20.37:g.1532452G>T			1480452	B3KS88|Q5TFQ6	Silent	SNP	ENST00000381623.3	37	CCDS13018.1																																																																																				0.463	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		T	1532452	G	T	1532452	2	4	5	1	0	0	0	0	0	0	0	1	14338	1219	43	3		3	SIRPD	20	1532452	Silent	SNP	G	TCGA-04-1338-01A-01W-0484-10		1532452	61493068	128	346											
RBPJL	11317	hgsc.bcm.edu	37	20	43942111	43942111	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr20:43942111G>T	ENST00000343694.3	+	7	695	c.623G>T	c.(622-624)tGc>tTc	p.C208F	RBPJL_ENST00000372743.1_Missense_Mutation_p.C208F|RBPJL_ENST00000372741.3_Missense_Mutation_p.C208F	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	208					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C208F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ctcacAGTGTGCATATCCTCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											98	75	83					20																	43942111		2203	4300	6503	43375525	SO:0001583	missense	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.623G>T	20.37:g.43942111G>T	ENSP00000341243:p.Cys208Phe		43375525	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466644	0.84425	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.39592	1.07;1.07;1.07	5.06	5.06	0.68205	LAG1, DNA binding (1);Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.71031	-0.4710	10	0.87932	D	0	-36.075	17.6043	0.88034	0.0:0.0:1.0:0.0	.	208;208	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	F	208	ENSP00000361828:C208F;ENSP00000361826:C208F;ENSP00000341243:C208F	ENSP00000341243:C208F	C	+	2	0	RBPJL	43375525	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.202000	0.95026	2.618000	0.88619	0.557000	0.71058	TGC		0.587	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		T	43942111	G	T	43942111	3	4	5	1	0	0	0	0	1	0	0	0	13165	1319	46	3	649	3	RBPJL	20	43942111	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10	42409659	43942111	19083409	129	347											
GCFC1	94104	hgsc.bcm.edu	37	21	34134621	34134621	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr21:34134621A>C	ENST00000331923.4	-	4	846	c.657T>G	c.(655-657)atT>atG	p.I219M	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.I219M	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	219					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I219M(1)									CTGCATCTGGAATTTCTCCTA	0.403																																																1	Substitution - Missense(1)	ovary(1)	21											39	40	40					21																	34134621		2203	4300	6503	33056492	SO:0001583	missense	94104			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.657T>G	21.37:g.34134621A>C	ENSP00000328992:p.Ile219Met		33056492	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.483231	0.63962	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.57907	0.75;0.37	5.72	0.467	0.16721	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67448	-0.5668	10	0.87932	D	0	-21.1051	5.5164	0.16908	0.4552:0.0:0.409:0.1358	.	219;219	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	M	219	ENSP00000328992:I219M;ENSP00000290178:I219M	ENSP00000290178:I219M	I	-	3	3	GCFC1	33056492	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	0.729000	0.26028	0.091000	0.17302	0.455000	0.32223	ATT		0.403	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		C	34134621	A	C	34134621	3	2	5	1	0	0	0	0	1	0	0	0	6289	242	9	5	2274	5	GCFC1	21	34134621	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10		34134621	13995274	130	348											
GART	2618	hgsc.bcm.edu	37	21	34893293	34893293	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr21:34893293C>G	ENST00000381831.3	-	13	1686	c.1423G>C	c.(1423-1425)Ggt>Cgt	p.G475R	GART_ENST00000381839.3_Missense_Mutation_p.G475R|GART_ENST00000381815.4_Missense_Mutation_p.G475R|GART_ENST00000543717.1_Missense_Mutation_p.G27R	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	475	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.G475R(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TCAAAAAGACCAGCAAAACCT	0.358																																																1	Substitution - Missense(1)	ovary(1)	21											87	90	89					21																	34893293		2203	4300	6503	33815163	SO:0001583	missense	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1423G>C	21.37:g.34893293C>G	ENSP00000371253:p.Gly475Arg		33815163	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069515	0.93950	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.59	5.59	0.84812	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	H	0.97415	4	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.84576	0.0658	10	0.87932	D	0	-13.2227	19.5805	0.95465	0.0:1.0:0.0:0.0	.	475	P22102	PUR2_HUMAN	R	475;475;475;27	ENSP00000371236:G475R;ENSP00000371253:G475R;ENSP00000371261:G475R;ENSP00000443579:G27R	ENSP00000371236:G475R	G	-	1	0	GART	33815163	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.336000	0.79245	2.631000	0.89168	0.462000	0.41574	GGT		0.358	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		G	34893293	C	G	34893293	3	3	5	1	0	0	0	0	1	0	0	0	6243	594	21	3	1649	3	GART	21	34893293	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10	758672	34893293	13236602	131	349											
DYRK1A	1859	hgsc.bcm.edu	37	21	38862659	38862659	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr21:38862659A>G	ENST00000398960.2	+	6	922	c.847A>G	c.(847-849)Atc>Gtc	p.I283V	DYRK1A_ENST00000321219.8_Missense_Mutation_p.I283V|DYRK1A_ENST00000455387.2_Missense_Mutation_p.I55V|DYRK1A_ENST00000339659.4_Missense_Mutation_p.I274V|DYRK1A_ENST00000338785.3_Missense_Mutation_p.I283V|DYRK1A_ENST00000451934.1_Missense_Mutation_p.I283V|DYRK1A_ENST00000398956.2_Missense_Mutation_p.I283V	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.I283V(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGAACTTAGTATCATTCACTG	0.438																																					Melanoma(114;464 1602 31203 43785 45765)											1	Substitution - Missense(1)	ovary(1)	21											102	94	97					21																	38862659		2203	4300	6503	37784529	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.847A>G	21.37:g.38862659A>G	ENSP00000381932:p.Ile283Val		37784529	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680821	0.68042	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.91	5.91	0.95273	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	0.65112	0.2660	N	0.21324	0.655	0.80722	D	1	B;B;B;B;B	0.29085	0.232;0.232;0.19;0.158;0.232	B;B;B;B;B	0.43251	0.413;0.413;0.177;0.111;0.413	T	0.66196	-0.5984	10	0.54805	T	0.06	.	16.3446	0.83118	1.0:0.0:0.0:0.0	.	283;283;283;274;283	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	V	283;274;283;283;283;283;55	ENSP00000342690:I283V;ENSP00000340373:I274V;ENSP00000319032:I283V;ENSP00000416089:I283V;ENSP00000381932:I283V;ENSP00000381929:I283V;ENSP00000407854:I55V	ENSP00000319032:I283V	I	+	1	0	DYRK1A	37784529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.244000	0.95423	2.254000	0.74563	0.467000	0.42956	ATC		0.438	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		G	38862659	A	G	38862659	3	3	5	1	0	0	0	0	1	0	0	0	4854	449	16	4	869	4	DYRK1A	21	38862659	Missense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	3969366	38862659	9267236	132	350											
KCNJ15	3772	hgsc.bcm.edu	37	21	39672138	39672138	+	Nonsense_Mutation	SNP	A	A	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr21:39672138A>T	ENST00000328656.4	+	4	1258	c.955A>T	c.(955-957)Aaa>Taa	p.K319*	KCNJ15_ENST00000398932.1_Nonsense_Mutation_p.K319*|KCNJ15_ENST00000398934.1_Nonsense_Mutation_p.K319*|KCNJ15_ENST00000398930.1_Nonsense_Mutation_p.K319*|KCNJ15_ENST00000398938.2_Nonsense_Mutation_p.K319*	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	319					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.K319*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	ATCTCTCTCCAAAAATGGAAA	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	21											65	64	64					21																	39672138		2203	4300	6503	38594008	SO:0001587	stop_gained	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.955A>T	21.37:g.39672138A>T	ENSP00000331698:p.Lys319*		38594008	D3DSH5|O00564|Q96L28|Q99446	Nonsense_Mutation	SNP	ENST00000328656.4	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	A	38	7.065478	0.98040	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000398930;ENST00000398934	.	.	.	5.83	5.83	0.93111	.	0.161373	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4498	0.55671	0.8219:0.1781:0.0:0.0	.	.	.	.	X	319	.	.	K	+	1	0	KCNJ15	38594008	0.904000	0.30761	1.000000	0.80357	0.979000	0.70002	3.653000	0.54446	2.236000	0.73375	0.533000	0.62120	AAA		0.448	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		T	39672138	A	T	39672138	4	4	5	1	0	0	0	0	0	1	0	0	8049	131	5	5	957	5	KCNJ15	21	39672138	Nonsense_Mutation	SNP	A	TCGA-04-1338-01A-01W-0484-10	809479	39672138	8457757	133	351											
CSF2RB	1439	hgsc.bcm.edu	37	22	37322081	37322081	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chr22:37322081G>T	ENST00000403662.3	+	4	475	c.253G>T	c.(253-255)Gcc>Tcc	p.A85S	CSF2RB_ENST00000536485.1_Missense_Mutation_p.A26S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.A85S|CSF2RB_ENST00000262825.5_Missense_Mutation_p.A85S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	85					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.A85S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCTGGTCAGCCTGCCCCCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	22											124	91	102					22																	37322081		2203	4300	6503	35652027	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.253G>T	22.37:g.37322081G>T	ENSP00000384053:p.Ala85Ser		35652027	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	5.738	0.320643	0.10845	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.26	-2.86	0.05717	Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.319440	0.01709	N	0.027596	T	0.35219	0.0924	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.17531	-1.0366	10	0.15952	T	0.53	-3.9479	5.4444	0.16527	0.3488:0.2733:0.3779:0.0	.	85;85	P32927-2;P32927	.;IL3RB_HUMAN	S	85;85;85;85;5;26	ENSP00000384053:A85S;ENSP00000262825:A85S;ENSP00000385271:A85S;ENSP00000393585:A5S;ENSP00000440003:A26S	ENSP00000262825:A85S	A	+	1	0	CSF2RB	35652027	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.203000	0.09438	-0.269000	0.09298	-0.258000	0.10820	GCC		0.582	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		T	37322081	G	T	37322081	3	4	5	1	0	0	0	0	1	0	0	0	3935	971	34	3	263	3	CSF2RB	22	37322081	Missense_Mutation	SNP	G	TCGA-04-1338-01A-01W-0484-10		37322081	13982485	134	352											
EFHC2	80258	hgsc.bcm.edu	37	X	44120529	44120529	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chrX:44120529C>T	ENST00000420999.1	-	4	481	c.398G>A	c.(397-399)cGt>cAt	p.R133H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	133	DM10 1. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)	p.R133H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AATCCGATGACGCCGGATAGA	0.418													C|||	1	0.000264901	0	0	3775	,	,		14280	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	X											52	45	47					X																	44120529		1853	4089	5942	44005473	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.398G>A	X.37:g.44120529C>T	ENSP00000404232:p.Arg133His		44005473	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975656	0.92919	.	.	ENSG00000183690	ENST00000333807;ENST00000420999	T;T	0.78246	-1.16;-1.16	5.83	5.83	0.93111	Uncharacterised domain DM10 (2);	0.000000	0.85682	D	0.000000	D	0.91509	0.7319	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93146	0.6545	10	0.66056	D	0.02	-4.6236	19.0508	0.93043	0.0:1.0:0.0:0.0	.	133	Q5JST6	EFHC2_HUMAN	H	133;161	ENSP00000333823:R133H;ENSP00000404232:R161H	ENSP00000333823:R133H	R	-	2	0	EFHC2	44005473	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	6.775000	0.75018	2.448000	0.82819	0.600000	0.82982	CGT		0.418	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		T	44120529	C	T	44120529	3	4	5	1	0	0	0	0	1	0	0	0	4947	536	19	1	1899	1	EFHC2	23	44120529	Missense_Mutation	SNP	C	TCGA-04-1338-01A-01W-0484-10		44120529	111150031	135	353											
RAB41	407	hgsc.bcm.edu	37	X	69504160	69504160	+	IGR	SNP	A	A	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chrX:69504160A>G	ENST00000307959.8	+	0	1292				RAB41_ENST00000276066.4_Silent_p.S197S|RAB41_ENST00000374473.2_Silent_p.S198S	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.S198S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CAAGGACTTCACCTCCACCAA	0.463																																																1	Substitution - coding silent(1)	ovary(1)	X											67	59	62					X																	69504160		2203	4300	6503	69420885	SO:0001628	intergenic_variant	347517				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69504160A>G			69420885	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	CCDS14399.1																																																																																				0.463	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		G	69504160	A	G	69504160	1	3	5	0	1	0	0	0	0	0	0	0	12946	146	6	4		4	RAB41	23	69504160	IGR	SNP	A	TCGA-04-1338-01A-01W-0484-10	25383631	69504160	85766400	136	354											
ERCC6L	54821	hgsc.bcm.edu	37	X	71424880	71424880	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chrX:71424880T>G	ENST00000334463.3	-	2	3872	c.3737A>C	c.(3736-3738)cAa>cCa	p.Q1246P	ERCC6L_ENST00000373657.1_Missense_Mutation_p.Q1123P|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1246					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q1246P(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GTTATTAAGTTGCTTATACAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	X											50	45	47					X																	71424880		2203	4300	6503	71341605	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3737A>C	X.37:g.71424880T>G	ENSP00000334675:p.Gln1246Pro		71341605	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.687333	0.68157	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.74421	-0.84;-0.84	5.64	4.43	0.53597	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.80732	0.4679	M	0.62723	1.935	0.38092	D	0.936981	D	0.71674	0.998	P	0.62014	0.897	D	0.83576	0.0115	9	0.72032	D	0.01	-6.2092	9.3946	0.38394	0.1605:0.0:0.0:0.8394	.	1246	Q2NKX8	ERC6L_HUMAN	P	1123;1246	ENSP00000362761:Q1123P;ENSP00000334675:Q1246P	ENSP00000334675:Q1246P	Q	-	2	0	ERCC6L	71341605	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	3.974000	0.56852	1.896000	0.54893	0.430000	0.28490	CAA		0.338	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		G	71424880	T	G	71424880	3	3	5	1	0	0	0	0	1	0	0	0	5218	1812	63	5	19	5	ERCC6L	23	71424880	Missense_Mutation	SNP	T	TCGA-04-1338-01A-01W-0484-10	1920720	71424880	83845680	137	355											
ZNF185	7739	hgsc.bcm.edu	37	X	152089284	152089284	+	Silent	SNP	C	C	T			TCGA-04-1338-01A-01W-0484-10	TCGA-04-1338-11A-01W-0485-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	bc6e8fb3-e66d-4f60-b3ee-dd82a784995c	4d810a9a-4d23-4d37-9080-6dccbdc28e7c	g.chrX:152089284C>T	ENST00000370268.4	+	9	682	c.645C>T	c.(643-645)atC>atT	p.I215I	ZNF185_ENST00000324823.6_Silent_p.I81I|ZNF185_ENST00000318504.7_Silent_p.I215I|ZNF185_ENST00000370270.2_Silent_p.I215I|ZNF185_ENST00000318529.8_Silent_p.I53I|ZNF185_ENST00000449285.2_Silent_p.I216I|ZNF185_ENST00000539731.1_Silent_p.I215I|ZNF185_ENST00000535861.1_Silent_p.I215I			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	215						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I76I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CACCGTTTATCGCGAAGAGGT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	X											109	101	104					X																	152089284		2057	4170	6227	151839940	SO:0001819	synonymous_variant	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.645C>T	X.37:g.152089284C>T			151839940	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Silent	SNP	ENST00000370268.4	37	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138461	0.06669	.	.	ENSG00000147394	ENST00000426821;ENST00000447088;ENST00000447792	.	.	.	5.38	-5.71	0.02413	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.27469	N	0.952931	.	.	.	.	.	.	T	0.29971	-0.9994	4	.	.	.	-3.7417	3.2995	0.06978	0.1238:0.4157:0.1248:0.3357	.	.	.	.	C	60;33;12	.	.	R	+	1	0	ZNF185	151839940	0.022000	0.18835	0.028000	0.17463	0.032000	0.12392	-2.083000	0.01364	-0.936000	0.03723	-1.278000	0.01390	CGC		0.577	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		T	152089284	C	T	152089284	2	4	5	1	0	0	0	0	0	0	0	1	17752	874	31	1		1	ZNF185	23	152089284	Silent	SNP	C	TCGA-04-1338-01A-01W-0484-10	80664404	152089284	3181276	138	356											
CSMD2	114784	broad.mit.edu	37	1	33998804	33998804	+	Silent	SNP	C	C	T			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr1:33998804C>T	ENST00000373381.4	-	64	10193	c.10017G>A	c.(10015-10017)acG>acA	p.T3339T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T3195T(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATGCGTTGGCGTCTCTGGCT	0.617																																																1	Substitution - coding silent(1)	ovary(1)	1											32	31	31					1																	33998804		2203	4300	6503	33771391	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10017G>A	1.37:g.33998804C>T			33771391	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		T	33998804	C	T	33998804	2	4	6	1	0	0	0	0	0	0	0	1	3945	755	27	1		1	CSMD2	1	33998804	Silent	SNP	C	TCGA-04-1342-01A-01W-0486-08		33998804	215251817	1	357											
LEPRE1	64175	broad.mit.edu	37	1	43213441	43213441	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr1:43213441C>T	ENST00000296388.5	-	13	1918	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	LEPRE1_ENST00000236040.4_Missense_Mutation_p.D623N|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.D623N			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	623	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.D623N(1)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTCCGCCATCGAAGTCCCCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											159	157	158					1																	43213441		2203	4300	6503	42986028	SO:0001583	missense	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1867G>A	1.37:g.43213441C>T	ENSP00000296388:p.Asp623Asn		42986028	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	CCDS472.2	.	.	.	.	.	.	.	.	.	.	C	32	5.118393	0.94385	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.42131	0.98;0.98;0.98	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.153987	0.56097	D	0.000023	T	0.53834	0.1821	L	0.61036	1.89	0.45930	D	0.998769	D;P;D	0.63880	0.993;0.94;0.967	P;P;P	0.52710	0.535;0.545;0.707	T	0.59139	-0.7510	10	0.72032	D	0.01	-26.3936	16.0157	0.80439	0.0:1.0:0.0:0.0	.	623;488;623	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	N	623;623;623;488	ENSP00000380245:D623N;ENSP00000236040:D623N;ENSP00000296388:D623N	ENSP00000236040:D623N	D	-	1	0	LEPRE1	42986028	1.000000	0.71417	0.992000	0.48379	0.902000	0.53008	4.613000	0.61176	2.372000	0.80975	0.655000	0.94253	GAT		0.522	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		T	43213441	C	T	43213441	3	4	6	1	0	0	0	0	1	0	0	0	8729	884	31	1	374	1	LEPRE1	1	43213441	Missense_Mutation	SNP	C	TCGA-04-1342-01A-01W-0486-08	9214637	43213441	206037180	2	358											
C1orf85	112770	broad.mit.edu	37	1	156264687	156264687	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr1:156264687C>T	ENST00000362007.1	-	2	267	c.241G>A	c.(241-243)Gta>Ata	p.V81I	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	81					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V81I(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GCCACCATTACCACTGCCAGA	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											75	81	79					1																	156264687		2203	4300	6503	154531311	SO:0001583	missense	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.241G>A	1.37:g.156264687C>T	ENSP00000354553:p.Val81Ile		154531311	A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	ENST00000362007.1	37	CCDS1139.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577408	0.28180	.	.	ENSG00000198715	ENST00000362007	T	0.21932	1.98	5.03	2.08	0.27032	.	0.085473	0.48286	D	0.000188	T	0.05686	0.0149	N	0.22421	0.69	0.80722	D	1	B	0.22683	0.073	B	0.21151	0.033	T	0.17745	-1.0359	10	0.59425	D	0.04	0.1357	9.6568	0.39930	0.1042:0.2198:0.676:0.0	.	81	Q8WWB7	NCUG1_HUMAN	I	81	ENSP00000354553:V81I	ENSP00000354553:V81I	V	-	1	0	C1orf85	154531311	1.000000	0.71417	0.848000	0.33437	0.067000	0.16453	2.353000	0.44089	0.152000	0.19188	0.561000	0.74099	GTA		0.617	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		T	156264687	C	T	156264687	3	4	6	1	0	0	0	0	1	0	0	0	2062	507	18	2	999	2	C1orf85	1	156264687	Missense_Mutation	SNP	C	TCGA-04-1342-01A-01W-0486-08	113051246	156264687	92985934	3	359											
HSD17B7	51478	broad.mit.edu	37	1	162773313	162773313	+	Silent	SNP	G	G	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr1:162773313G>A	ENST00000254521.3	+	6	790	c.735G>A	c.(733-735)ccG>ccA	p.P245P	HSD17B7_ENST00000367917.3_Intron|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	245					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.P245P(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TGTTGATGCCGGCAATATTGC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	1											122	107	112					1																	162773313		2203	4300	6503	161039937	SO:0001819	synonymous_variant	51478			AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.735G>A	1.37:g.162773313G>A			161039937	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Silent	SNP	ENST00000254521.3	37	CCDS1242.1																																																																																				0.388	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		A	162773313	G	A	162773313	2	1	6	1	0	0	0	0	0	0	0	1	7388	1103	39	1		1	HSD17B7	1	162773313	Silent	SNP	G	TCGA-04-1342-01A-01W-0486-08	6508626	162773313	86477308	4	360											
GTF2A1L	11036	broad.mit.edu	37	2	48873885	48873885	+	Missense_Mutation	SNP	G	G	A	rs61754876	byFrequency	TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr2:48873885G>A	ENST00000403751.3	+	6	719	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V194M|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V932M|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V932M|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V932M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V885M|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V932M|LHCGR_ENST00000420913.3_Intron	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	228					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.V932M(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCATAAAATCGTGCCTGAAGC	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											123	110	115					2																	48873885		2203	4300	6503	48727389	SO:0001583	missense	286749			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"TFIIA alpha/beta like factor"	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.682G>A	2.37:g.48873885G>A	ENSP00000384597:p.Val228Met		48727389	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	3.154	-0.173515	0.06421	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T	0.47528	2.84;2.82;2.84;2.84;3.1;0.84	4.52	-5.33	0.02713	.	1.770990	0.03153	N	0.168183	T	0.16642	0.0400	N	0.00823	-1.155	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.003;0.002;0.004;0.001	B;B;B;B;B	0.11329	0.004;0.001;0.004;0.006;0.001	T	0.17653	-1.0362	10	0.41790	T	0.15	.	5.411	0.16349	0.336:0.299:0.3649:0.0	.	194;885;932;228;932	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	M	932;932;932;932;885;227;237;194;228	ENSP00000385499:V932M;ENSP00000385701:V932M;ENSP00000378236:V932M;ENSP00000311493:V932M;ENSP00000378234:V885M;ENSP00000396702:V237M	ENSP00000384597:V228M	V	+	1	0	STON1-GTF2A1L;GTF2A1L	48727389	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.850000	0.04317	-0.772000	0.04602	-0.948000	0.02665	GTG		0.413	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		A	48873885	G	A	48873885	3	1	6	1	0	0	0	0	1	0	0	0	6853	1145	40	1	704	1	GTF2A1L	2	48873885	Missense_Mutation	SNP	G	TCGA-04-1342-01A-01W-0486-08		48873885	194325488	5	361											
SNRNP200	23020	broad.mit.edu	37	2	96957584	96957584	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr2:96957584G>A	ENST00000323853.5	-	17	2292	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	739	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R739W(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACATGTCCCGGATGGCCCTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											65	61	63					2																	96957584		2203	4300	6503	96321311	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2215C>T	2.37:g.96957584G>A	ENSP00000317123:p.Arg739Trp		96321311	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482628	0.84747	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.76316	-1.01	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.93031	0.6448	10	0.87932	D	0	-17.1617	12.9695	0.58505	0.0:0.0:0.7432:0.2568	.	739	O75643	U520_HUMAN	W	739;414	ENSP00000317123:R739W	ENSP00000317123:R739W	R	-	1	2	SNRNP200	96321311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.263000	0.51546	2.941000	0.99782	0.655000	0.94253	CGG		0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		A	96957584	G	A	96957584	3	1	6	1	0	0	0	0	1	0	0	0	14855	1115	39	1	4311	1	SNRNP200	2	96957584	Missense_Mutation	SNP	G	TCGA-04-1342-01A-01W-0486-08	48083699	96957584	146241789	6	362											
SCN10A	6336	broad.mit.edu	37	3	38802218	38802218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr3:38802218G>A	ENST00000449082.2	-	7	903	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	302					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R302*(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GAAGTGCCTCGCTTATTTATG	0.458																																																2	Substitution - Nonsense(2)	ovary(1)|endometrium(1)	3											113	102	106					3																	38802218		2203	4300	6503	38777222	SO:0001587	stop_gained	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.904C>T	3.37:g.38802218G>A	ENSP00000390600:p.Arg302*		38777222	A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433282	0.83776	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.36	-2.59	0.06209	.	3.700920	0.04016	U	0.299077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	1.4459	0.02365	0.1636:0.243:0.3468:0.2467	.	.	.	.	X	302	.	ENSP00000390600:R302X	R	-	1	2	SCN10A	38777222	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	-1.493000	0.02298	-0.311000	0.08754	0.650000	0.86243	CGA		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38802218	G	A	38802218	4	1	6	1	0	0	0	0	0	1	0	0	13915	1095	38	1	5050	1	SCN10A	3	38802218	Nonsense_Mutation	SNP	G	TCGA-04-1342-01A-01W-0486-08		38802218	159220212	7	363											
ZNF721	170960	broad.mit.edu	37	4	436638	436638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr4:436638G>A	ENST00000338977.5	-	2	1630	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Nonsense_Mutation_p.Q540*|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q310*(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATTGCGGACTGTCTAAAGGCT	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	4											84	91	89					4																	436638		2109	4257	6366	426638	SO:0001587	stop_gained	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1582C>T	4.37:g.436638G>A	ENSP00000340524:p.Gln528*		426638	Q69YG7	Nonsense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617074	0.66672	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	.	.	.	0.701	-0.906	0.10524	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	1.6189	0.02709	0.2706:0.0:0.3957:0.3336	.	.	.	.	X	528;540	.	ENSP00000340524:Q528X	Q	-	1	0	ZNF721	426638	0.000000	0.05858	0.000000	0.03702	0.653000	0.38743	-1.439000	0.02414	-0.298000	0.08921	0.184000	0.17185	CAG		0.408	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		A	436638	G	A	436638	4	1	6	1	0	0	0	0	0	1	0	0	18122	1386	48	2	1157	2	ZNF721	4	436638	Nonsense_Mutation	SNP	G	TCGA-04-1342-01A-01W-0486-08		436638	190717638	8	364											
RAB28	9364	broad.mit.edu	37	4	13383174	13383174	+	Missense_Mutation	SNP	G	G	A	rs139395840	byFrequency	TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr4:13383174G>A	ENST00000330852.5	-	5	650	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	RAB28_ENST00000288723.4_Missense_Mutation_p.R146W|RAB28_ENST00000338176.4_Missense_Mutation_p.R146W	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	146					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R146W(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TGGCAAAACCGTAAGTGTTTT	0.328													G|||	4	0.000798722	0.003	0	5008	,	,		14322	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4						G	TRP/ARG,TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	67	69	69		436,436,436	2.1	0.7	4	dbSNP_134	69	0,8600		0,0,4300	yes	missense,missense,missense	RAB28	NM_001017979.2,NM_001159601.1,NM_004249.3	101,101,101	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging	146/222,146/205,146/221	13383174	4,13002	2203	4300	6503	12992272	SO:0001583	missense	9364			X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"RAB, member RAS oncogene"	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.436C>T	4.37:g.13383174G>A	ENSP00000328551:p.Arg146Trp		12992272	G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	ENST00000330852.5	37	CCDS33961.1	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	19.70|19.70	3.877388|3.877388	0.72294|0.72294	9.08E-4|9.08E-4	0.0|0.0	ENSG00000157869|ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176|ENST00000511649	T;T;T|.	0.77489|.	-1.1;-1.1;-1.1|.	5.87|5.87	2.09|2.09	0.27110|0.27110	Small GTP-binding protein domain (1);|.	0.119762|.	0.56097|.	N|.	0.000037|.	T|T	0.63908|0.63908	0.2551|0.2551	M|M	0.71871|0.71871	2.18|2.18	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.76494|.	0.999;0.999|.	P;P|.	0.61940|.	0.896;0.892|.	T|T	0.58498|0.58498	-0.7626|-0.7626	10|5	0.72032|.	D|.	0.01|.	.|.	9.5919|9.5919	0.39550|0.39550	0.0646:0.0:0.4075:0.5279|0.0646:0.0:0.4075:0.5279	.|.	146;146|.	P51157;P51157-2|.	RAB28_HUMAN;.|.	W|M	146|68	ENSP00000328551:R146W;ENSP00000288723:R146W;ENSP00000340079:R146W|.	ENSP00000288723:R146W|.	R|T	-|-	1|2	2|0	RAB28|RAB28	12992272|12992272	1.000000|1.000000	0.71417|0.71417	0.707000|0.707000	0.30419|0.30419	0.997000|0.997000	0.91878|0.91878	1.971000|1.971000	0.40530|0.40530	0.064000|0.064000	0.16427|0.16427	0.585000|0.585000	0.79938|0.79938	CGG|ACG		0.328	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		A	13383174	G	A	13383174	3	1	6	1	0	0	0	0	1	0	0	0	12919	1144	40	1	381	1	RAB28	4	13383174	Missense_Mutation	SNP	G	TCGA-04-1342-01A-01W-0486-08	12946536	13383174	177771102	9	365											
KIT	3815	broad.mit.edu	37	4	55604662	55604662	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr4:55604662T>C	ENST00000288135.5	+	21	2967	c.2870T>C	c.(2869-2871)aTc>aCc	p.I957T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	957					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I957T(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGTGCGGATCAATTCTGTC	0.527		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	1	Substitution - Missense(1)	ovary(1)	4											135	129	131					4																	55604662		2203	4300	6503	55299419	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2870T>C	4.37:g.55604662T>C	ENSP00000288135:p.Ile957Thr		55299419	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303566	0.60195	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.77358	-1.09;-1.09	5.72	5.72	0.89469	.	0.137643	0.38381	N	0.001715	T	0.76428	0.3986	L	0.55481	1.735	0.46011	D	0.99881	B;P	0.36768	0.127;0.569	B;B	0.39771	0.139;0.309	T	0.78816	-0.2055	10	0.72032	D	0.01	.	14.2508	0.66019	0.0:0.0:0.0:1.0	.	953;957	P10721-2;P10721	.;KIT_HUMAN	T	957;953	ENSP00000288135:I957T;ENSP00000390987:I953T	ENSP00000288135:I957T	I	+	2	0	KIT	55299419	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	6.703000	0.74633	2.185000	0.69588	0.459000	0.35465	ATC		0.527	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			C	55604662	T	C	55604662	3	2	6	1	0	0	0	0	1	0	0	0	8329	1435	50	4	2952	4	KIT	4	55604662	Missense_Mutation	SNP	T	TCGA-04-1342-01A-01W-0486-08	42221488	55604662	135549614	10	366											
MTRR	4552	broad.mit.edu	37	5	7897055	7897055	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr5:7897055G>T	ENST00000264668.2	+	13	1866	c.1836G>T	c.(1834-1836)agG>agT	p.R612S	MTRR_ENST00000440940.2_Missense_Mutation_p.R585S	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	612					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.R612S(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATAAGGATAGGGATTATCTAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	5											57	60	59					5																	7897055		2203	4300	6503	7950055	SO:0001583	missense	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1836G>T	5.37:g.7897055G>T	ENSP00000264668:p.Arg612Ser		7950055	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548085	0.65311	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.77620	-1.11;-1.11	5.49	-0.487	0.12060	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.368957	0.35291	N	0.003302	T	0.69637	0.3133	N	0.25332	0.735	0.80722	D	1	D	0.59357	0.985	P	0.58820	0.846	T	0.63941	-0.6523	10	0.15066	T	0.55	-27.1968	5.7448	0.18114	0.6517:0.0:0.1904:0.1579	.	612	Q9UBK8	MTRR_HUMAN	S	612;585	ENSP00000264668:R612S;ENSP00000402510:R585S	ENSP00000264668:R612S	R	+	3	2	MTRR	7950055	0.996000	0.38824	0.095000	0.20976	0.958000	0.62258	0.727000	0.25999	-0.015000	0.14150	-0.345000	0.07892	AGG		0.363	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			T	7897055	G	T	7897055	3	4	6	1	0	0	0	0	1	0	0	0	9961	1223	43	3	1886	3	MTRR	5	7897055	Missense_Mutation	SNP	G	TCGA-04-1342-01A-01W-0486-08		7897055	173018205	11	367											
ANKRD32	84250	broad.mit.edu	37	5	94031004	94031004	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr5:94031004T>C	ENST00000265140.5	+	21	3583	c.3164T>C	c.(3163-3165)aTg>aCg	p.M1055T	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	1055						centrosome (GO:0005813)|nucleus (GO:0005634)		p.M419T(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CGGTCAGTCATGGAGTTTTCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											149	151	151					5																	94031004		2146	4264	6410	94056760	SO:0001583	missense	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.3164T>C	5.37:g.94031004T>C	ENSP00000265140:p.Met1055Thr		94056760	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	T	0.091	-1.167230	0.01660	.	.	ENSG00000133302	ENST00000265140	T	0.37752	1.18	5.55	2.7	0.31948	.	1.450950	0.04061	N	0.306306	T	0.12860	0.0312	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33777	-0.9855	10	0.02654	T	1	.	5.4602	0.16612	0.0:0.6128:0.1445:0.2427	.	1055	Q9BQI6	ANR32_HUMAN	T	1055	ENSP00000265140:M1055T	ENSP00000265140:M1055T	M	+	2	0	ANKRD32	94056760	0.329000	0.24696	0.974000	0.42286	0.967000	0.64934	0.012000	0.13287	0.717000	0.32145	-0.132000	0.14878	ATG		0.408	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		C	94031004	T	C	94031004	3	2	6	1	0	0	0	0	1	0	0	0	660	1464	51	4	3242	4	ANKRD32	5	94031004	Missense_Mutation	SNP	T	TCGA-04-1342-01A-01W-0486-08	86133949	94031004	86884256	12	368											
WDR36	134430	broad.mit.edu	37	5	110446633	110446633	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr5:110446633A>G	ENST00000513710.2	+	14	1760	c.1756A>G	c.(1756-1758)Atg>Gtg	p.M586V	WDR36_ENST00000506538.2_Missense_Mutation_p.M586V|WDR36_ENST00000505303.1_Missense_Mutation_p.M530V			Q8NI36	WDR36_HUMAN	WD repeat domain 36	586					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.M586V(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TCCAAATATCATGTTGCTACA	0.323																																																1	Substitution - Missense(1)	ovary(1)	5											77	81	80					5																	110446633		2202	4298	6500	110474532	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1756A>G	5.37:g.110446633A>G	ENSP00000424628:p.Met586Val		110474532	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	5.003	0.186324	0.09495	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.77877	-1.13;-1.13;-0.23	5.72	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.426061	0.32328	N	0.006251	T	0.66761	0.2822	L	0.38531	1.155	0.30955	N	0.724308	B	0.12630	0.006	B	0.10450	0.005	T	0.65915	-0.6052	10	0.87932	D	0	-12.3979	7.3552	0.26714	0.7823:0.1459:0.0719:0.0	.	586	Q8NI36	WDR36_HUMAN	V	586;586;530	ENSP00000423067:M586V;ENSP00000424628:M586V;ENSP00000422158:M530V	ENSP00000422158:M530V	M	+	1	0	WDR36	110474532	0.994000	0.37717	0.971000	0.41717	0.519000	0.34347	2.538000	0.45710	0.943000	0.37553	0.528000	0.53228	ATG		0.323	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		G	110446633	A	G	110446633	3	3	6	1	0	0	0	0	1	0	0	0	17290	217	8	4	1810	4	WDR36	5	110446633	Missense_Mutation	SNP	A	TCGA-04-1342-01A-01W-0486-08	16415629	110446633	70468627	13	369											
CAMK4	814	broad.mit.edu	37	5	110819728	110819728	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr5:110819728C>A	ENST00000282356.4	+	11	1384	c.986C>A	c.(985-987)gCg>gAg	p.A329E	CAMK4_ENST00000512453.1_Missense_Mutation_p.A329E|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	329	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A329E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AATCAGGCAGCGGTGAAGGCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											32	34	33					5																	110819728		2201	4295	6496	110847627	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.986C>A	5.37:g.110819728C>A	ENSP00000282356:p.Ala329Glu		110847627	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022756	0.93462	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.69926	-0.44;-0.44	5.81	5.81	0.92471	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81300	-0.0995	10	0.87932	D	0	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	329	Q16566	KCC4_HUMAN	E	329	ENSP00000422634:A329E;ENSP00000282356:A329E	ENSP00000282356:A329E	A	+	2	0	CAMK4	110847627	1.000000	0.71417	0.744000	0.31058	0.989000	0.77384	5.526000	0.67116	2.759000	0.94783	0.591000	0.81541	GCG		0.542	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		A	110819728	C	A	110819728	3	1	6	1	0	0	0	0	1	0	0	0	2605	768	27	3	1028	3	CAMK4	5	110819728	Missense_Mutation	SNP	C	TCGA-04-1342-01A-01W-0486-08	373095	110819728	70095532	14	370											
SH3PXD2B	285590	broad.mit.edu	37	5	171765936	171765936	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr5:171765936A>C	ENST00000311601.5	-	13	2343	c.2173T>G	c.(2173-2175)Tcc>Gcc	p.S725A	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	725					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.S725A(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCTGCAGGAAATCTCTTTT	0.627																																																1	Substitution - Missense(1)	ovary(1)	5											37	41	40					5																	171765936		2203	4300	6503	171698541	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2173T>G	5.37:g.171765936A>C	ENSP00000309714:p.Ser725Ala		171698541	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	A	1.619	-0.522042	0.04171	.	.	ENSG00000174705	ENST00000311601	T	0.60424	0.19	5.42	-5.97	0.02227	.	1.382880	0.04422	N	0.367776	T	0.38772	0.1053	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23619	-1.0183	9	.	.	.	-1.4909	11.2014	0.48743	0.1713:0.2735:0.5551:0.0	.	725	A1X283	SPD2B_HUMAN	A	725	ENSP00000309714:S725A	.	S	-	1	0	SH3PXD2B	171698541	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.609000	0.05635	-1.240000	0.02529	0.459000	0.35465	TCC		0.627	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		C	171765936	A	C	171765936	3	2	6	1	0	0	0	0	1	0	0	0	14260	246	9	5	566	5	SH3PXD2B	5	171765936	Missense_Mutation	SNP	A	TCGA-04-1342-01A-01W-0486-08	60946208	171765936	9149324	15	371											
FEZF1	389549	broad.mit.edu	37	7	121943234	121943234	+	Silent	SNP	C	C	T			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr7:121943234C>T	ENST00000442488.2	-	2	1000	c.933G>A	c.(931-933)acG>acA	p.T311T	FEZF1_ENST00000427185.2_Silent_p.T261T|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Silent_p.T307T|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	311					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.T307T(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACACACCTGCGTGTGAATGA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	7											140	134	136					7																	121943234		2203	4300	6503	121730470	SO:0001819	synonymous_variant	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.933G>A	7.37:g.121943234C>T			121730470	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	CCDS34741.2																																																																																				0.458	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		T	121943234	C	T	121943234	2	4	6	1	0	0	0	0	0	0	0	1	5825	755	27	1		1	FEZF1	7	121943234	Silent	SNP	C	TCGA-04-1342-01A-01W-0486-08		121943234	37195429	16	372											
GDF6	392255	broad.mit.edu	37	8	97172702	97172702	+	Silent	SNP	G	G	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr8:97172702G>A	ENST00000287020.5	-	1	318	c.219C>T	c.(217-219)gaC>gaT	p.D73D		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	73					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.D73D(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCCGGGGTTCGTCCTGAGGCC	0.701																																																1	Substitution - coding silent(1)	ovary(1)	8											37	45	42					8																	97172702		2195	4289	6484	97241878	SO:0001819	synonymous_variant	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.219C>T	8.37:g.97172702G>A			97241878	Q6PI58	Silent	SNP	ENST00000287020.5	37	CCDS34926.1																																																																																				0.701	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		A	97172702	G	A	97172702	2	1	6	1	0	0	0	0	0	0	0	1	6317	1136	40	1		1	GDF6	8	97172702	Silent	SNP	G	TCGA-04-1342-01A-01W-0486-08		97172702	49191320	17	373											
PAPPA	5069	broad.mit.edu	37	9	119065126	119065126	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr9:119065126C>G	ENST00000328252.3	+	10	3413	c.3044C>G	c.(3043-3045)aCg>aGg	p.T1015R	PAPPA_ENST00000534838.1_Missense_Mutation_p.T53R|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1015					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T1015R(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGTGTCTACACGCCCCAGGGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	9											124	108	113					9																	119065126		2203	4300	6503	118104947	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3044C>G	9.37:g.119065126C>G	ENSP00000330658:p.Thr1015Arg		118104947	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942695	0.92526	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	T;T	0.54071	0.59;0.59	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.77287	0.4108	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.78494	-0.2182	10	0.87932	D	0	-10.923	20.6244	0.99512	0.0:1.0:0.0:0.0	.	53;459;1015	F5GZ19;E7EMD3;Q13219	.;.;PAPP1_HUMAN	R	1015;459;53	ENSP00000330658:T1015R;ENSP00000441461:T53R	ENSP00000330658:T1015R	T	+	2	0	PAPPA	118104947	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	7.696000	0.84270	2.879000	0.98667	0.650000	0.86243	ACG		0.512	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		G	119065126	C	G	119065126	3	3	6	1	0	0	0	0	1	0	0	0	11432	536	19	3	3082	3	PAPPA	9	119065126	Missense_Mutation	SNP	C	TCGA-04-1342-01A-01W-0486-08		119065126	22148305	18	374											
TLR4	7099	broad.mit.edu	37	9	120475251	120475251	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr9:120475251A>G	ENST00000355622.6	+	3	946	c.845A>G	c.(844-846)aAt>aGt	p.N282S	TLR4_ENST00000394487.4_Missense_Mutation_p.N242S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	282					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.N282S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GGCCTGTGCAATTTGACCATT	0.373																																																1	Substitution - Missense(1)	ovary(1)	9											93	99	97					9																	120475251		2203	4300	6503	119515072	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.845A>G	9.37:g.120475251A>G	ENSP00000363089:p.Asn282Ser		119515072	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	1.363	-0.588154	0.03799	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37915	1.45;1.17	5.78	3.46	0.39613	.	0.414246	0.25200	N	0.032391	T	0.27731	0.0682	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23583	-1.0184	10	0.16420	T	0.52	.	9.2	0.37251	0.8776:0.0:0.1224:0.0	.	282	O00206	TLR4_HUMAN	S	242;282	ENSP00000377997:N242S;ENSP00000363089:N282S	ENSP00000363089:N282S	N	+	2	0	TLR4	119515072	0.001000	0.12720	0.045000	0.18777	0.047000	0.14425	1.353000	0.34045	0.480000	0.27534	0.533000	0.62120	AAT		0.373	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		G	120475251	A	G	120475251	3	3	6	1	0	0	0	0	1	0	0	0	15953	101	4	4	855	4	TLR4	9	120475251	Missense_Mutation	SNP	A	TCGA-04-1342-01A-01W-0486-08	1410125	120475251	20738180	19	375											
OR51S1	119692	broad.mit.edu	37	11	4870049	4870049	+	Silent	SNP	C	C	G			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr11:4870049C>G	ENST00000322101.2	-	1	465	c.390G>C	c.(388-390)cgG>cgC	p.R130R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R130R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCAGTGCCCGATCAATGG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	11											105	101	103					11																	4870049		2201	4298	6499	4826625	SO:0001819	synonymous_variant	119692			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.390G>C	11.37:g.4870049C>G			4826625	B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	37	CCDS31362.1																																																																																				0.527	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		G	4870049	C	G	4870049	2	3	6	1	0	0	0	0	0	0	0	1	11105	610	22	3		3	OR51S1	11	4870049	Silent	SNP	C	TCGA-04-1342-01A-01W-0486-08		4870049	130136467	20	376											
OR2AG2	338755	broad.mit.edu	37	11	6789379	6789379	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr11:6789379T>G	ENST00000338569.2	-	1	907	c.810A>C	c.(808-810)caA>caC	p.Q270H		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q270H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGATGTTGTCTTGTTTGGGGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	11											152	138	143					11																	6789379		2201	4296	6497	6745955	SO:0001583	missense	338755			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.810A>C	11.37:g.6789379T>G	ENSP00000342697:p.Gln270His		6745955		Missense_Mutation	SNP	ENST00000338569.2	37	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.862119	0.51482	.	.	ENSG00000188124	ENST00000338569	T	0.00169	8.63	4.47	-3.12	0.05282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000198	T	0.00328	0.0010	M	0.66560	2.04	0.29402	N	0.861852	D	0.89917	1.0	D	0.85130	0.997	T	0.49542	-0.8929	10	0.35671	T	0.21	.	5.158	0.15046	0.1526:0.2605:0.0:0.5869	.	270	A6NM03	O2AG2_HUMAN	H	270	ENSP00000342697:Q270H	ENSP00000342697:Q270H	Q	-	3	2	OR2AG2	6745955	0.000000	0.05858	0.571000	0.28486	0.990000	0.78478	-3.646000	0.00404	-0.558000	0.06118	0.533000	0.62120	CAA		0.512	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		G	6789379	T	G	6789379	3	3	6	1	0	0	0	0	1	0	0	0	10985	1606	56	5	144	5	OR2AG2	11	6789379	Missense_Mutation	SNP	T	TCGA-04-1342-01A-01W-0486-08	1919330	6789379	128217137	21	377											
NUP160	23279	broad.mit.edu	37	11	47869814	47869814	+	Silent	SNP	G	G	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr11:47869814G>A	ENST00000378460.2	-	1	205	c.159C>T	c.(157-159)cgC>cgT	p.R53R	NUP160_ENST00000532747.1_Silent_p.R19R|NUP160_ENST00000526870.1_Silent_p.R53R|NUP160_ENST00000530326.1_5'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	53					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.R53R(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCGGCCTTTCGCGCTCAGCTC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	11											65	68	67					11																	47869814		2201	4298	6499	47826390	SO:0001819	synonymous_variant	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.159C>T	11.37:g.47869814G>A			47826390	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	CCDS31484.1																																																																																				0.652	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		A	47869814	G	A	47869814	2	1	6	1	0	0	0	0	0	0	0	1	10757	1074	38	1		1	NUP160	11	47869814	Silent	SNP	G	TCGA-04-1342-01A-01W-0486-08	41080435	47869814	87136702	22	378											
OR5D14	219436	broad.mit.edu	37	11	55563433	55563433	+	Silent	SNP	T	T	C			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr11:55563433T>C	ENST00000335605.1	+	1	402	c.402T>C	c.(400-402)taT>taC	p.Y134Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y134Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTCTGCTTTATACAGTGGCCA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	11											101	90	94					11																	55563433		2200	4296	6496	55320009	SO:0001819	synonymous_variant	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.402T>C	11.37:g.55563433T>C			55320009	Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	CCDS31508.1																																																																																				0.542	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		C	55563433	T	C	55563433	2	2	6	1	0	0	0	0	0	0	0	1	11155	1413	49	4		4	OR5D14	11	55563433	Silent	SNP	T	TCGA-04-1342-01A-01W-0486-08	7693619	55563433	79443083	23	379											
INTS5	80789	broad.mit.edu	37	11	62416167	62416167	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr11:62416167A>G	ENST00000330574.2	-	2	1437	c.1385T>C	c.(1384-1386)cTa>cCa	p.L462P	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	462					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.L462P(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGGCGGGCCTAGCACCCCTTC	0.597																																																1	Substitution - Missense(1)	ovary(1)	11											53	57	56					11																	62416167		2202	4299	6501	62172743	SO:0001583	missense	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1385T>C	11.37:g.62416167A>G	ENSP00000327889:p.Leu462Pro		62172743	Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	A	7.798	0.713079	0.15306	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.87	4.87	0.63330	.	0.284524	0.31301	N	0.007882	T	0.48003	0.1476	N	0.08118	0	0.58432	D	0.99999	D	0.64830	0.994	P	0.59889	0.865	T	0.56691	-0.7937	9	0.59425	D	0.04	.	12.476	0.55814	1.0:0.0:0.0:0.0	.	462	Q6P9B9	INT5_HUMAN	P	462	.	ENSP00000327889:L462P	L	-	2	0	INTS5	62172743	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	3.972000	0.56838	2.052000	0.61016	0.533000	0.62120	CTA		0.597	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		G	62416167	A	G	62416167	3	3	6	1	0	0	0	0	1	0	0	0	7781	420	15	4	1678	4	INTS5	11	62416167	Missense_Mutation	SNP	A	TCGA-04-1342-01A-01W-0486-08	6852734	62416167	72590349	24	380											
ALKBH1	8846	broad.mit.edu	37	14	78161112	78161112	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr14:78161112C>T	ENST00000216489.3	-	3	439	c.424G>A	c.(424-426)Gat>Aat	p.D142N	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	142					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)	p.D142N(1)		endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCCACAGATCTTGGGTCTCT	0.423																																																1	Substitution - Missense(1)	ovary(1)	14											207	202	204					14																	78161112		2203	4300	6503	77230865	SO:0001583	missense	8846			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.424G>A	14.37:g.78161112C>T	ENSP00000216489:p.Asp142Asn		77230865	Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543728	0.27563	.	.	ENSG00000100601	ENST00000216489	T	0.32753	1.44	6.04	4.22	0.49857	.	0.341305	0.37136	N	0.002238	T	0.17789	0.0427	N	0.16478	0.41	0.34238	D	0.677347	B	0.18013	0.025	B	0.20184	0.028	T	0.18116	-1.0347	10	0.11182	T	0.66	-20.016	12.2332	0.54500	0.0:0.8638:0.0:0.1362	.	142	Q13686	ALKB1_HUMAN	N	142	ENSP00000216489:D142N	ENSP00000216489:D142N	D	-	1	0	ALKBH1	77230865	0.183000	0.23186	0.020000	0.16555	0.996000	0.88848	0.725000	0.25970	1.557000	0.49525	0.563000	0.77884	GAT		0.423	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		T	78161112	C	T	78161112	3	4	6	1	0	0	0	0	1	0	0	0	526	913	32	2	761	2	ALKBH1	14	78161112	Missense_Mutation	SNP	C	TCGA-04-1342-01A-01W-0486-08		78161112	29188428	25	381											
METT10D	79066	broad.mit.edu	37	17	2323627	2323627	+	Silent	SNP	G	G	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr17:2323627G>A	ENST00000263092.6	-	10	1453	c.1326C>T	c.(1324-1326)gcC>gcT	p.A442A	METTL16_ENST00000538844.1_Silent_p.A224A|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	442							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.A442A(1)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CCTCCACAGCGGCAGCCTCGC	0.657																																																1	Substitution - coding silent(1)	ovary(1)	17											61	68	66					17																	2323627		1847	4079	5926	2270377	SO:0001819	synonymous_variant	79066			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1326C>T	17.37:g.2323627G>A			2270377	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Silent	SNP	ENST00000263092.6	37	CCDS42232.1																																																																																				0.657	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		A	2323627	G	A	2323627	2	1	6	1	0	0	0	0	0	0	0	1	9490	1103	39	1		1	METT10D	17	2323627	Silent	SNP	G	TCGA-04-1342-01A-01W-0486-08		2323627	78871583	26	382											
ANKRD12	23253	broad.mit.edu	37	18	9208762	9208762	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr18:9208762G>A	ENST00000262126.4	+	5	652	c.412G>A	c.(412-414)Gca>Aca	p.A138T	ANKRD12_ENST00000383440.2_Missense_Mutation_p.A115T|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.A115T	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	138						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A138T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAACAGATGGCACTTCTTAT	0.413																																																1	Substitution - Missense(1)	ovary(1)	18											216	189	198					18																	9208762		2203	4300	6503	9198762	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.412G>A	18.37:g.9208762G>A	ENSP00000262126:p.Ala138Thr		9198762	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755322	0.69648	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T;T	0.56275	3.41;0.47;3.34	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.996	T	0.67608	-0.5627	10	0.72032	D	0.01	-22.3531	20.0951	0.97834	0.0:0.0:1.0:0.0	.	138;115;138	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	T	115;115;138;138	ENSP00000372932:A115T;ENSP00000441510:A115T;ENSP00000262126:A138T	ENSP00000262126:A138T	A	+	1	0	ANKRD12	9198762	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.753000	0.94483	0.467000	0.42956	GCA		0.413	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		A	9208762	G	A	9208762	3	1	6	1	0	0	0	0	1	0	0	0	640	1203	42	2	426	2	ANKRD12	18	9208762	Missense_Mutation	SNP	G	TCGA-04-1342-01A-01W-0486-08		9208762	68868486	27	383											
FCAR	2204	broad.mit.edu	37	19	55401079	55401079	+	Silent	SNP	C	C	T			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr19:55401079C>T	ENST00000355524.3	+	5	724	c.714C>T	c.(712-714)ctC>ctT	p.L238L	FCAR_ENST00000353758.4_Silent_p.L129L|FCAR_ENST00000391724.3_Silent_p.L204L|FCAR_ENST00000359272.4_Silent_p.L226L|FCAR_ENST00000345937.4_Silent_p.L142L|FCAR_ENST00000391725.3_Silent_p.L216L|FCAR_ENST00000391723.3_Missense_Mutation_p.R202C|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Silent_p.L130L	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	238					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L238L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GACTGGTCCTCGTGGCTCTCT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	19											280	272	274					19																	55401079		2203	4300	6503	60092891	SO:0001819	synonymous_variant	2204			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.714C>T	19.37:g.55401079C>T			60092891	Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567171	0.28003	.	.	ENSG00000186431	ENST00000391723	T	0.00594	6.33	3.8	-7.6	0.01303	.	.	.	.	.	T	0.00468	0.0015	.	.	.	0.20074	N	0.999939	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	8	0.87932	D	0	.	4.4982	0.11851	0.0915:0.1127:0.4212:0.3746	.	202	Q92588	.	C	202	ENSP00000375603:R202C	ENSP00000375603:R202C	R	+	1	0	FCAR	60092891	0.000000	0.05858	0.000000	0.03702	0.580000	0.36256	-2.945000	0.00681	-4.119000	0.00072	-0.262000	0.10625	CGT		0.542	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		T	55401079	C	T	55401079	2	4	6	1	0	0	0	0	0	0	0	1	5773	884	31	1		1	FCAR	19	55401079	Silent	SNP	C	TCGA-04-1342-01A-01W-0486-08		55401079	3727904	28	384											
BRSK1	84446	broad.mit.edu	37	19	55814187	55814187	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chr19:55814187G>A	ENST00000309383.1	+	10	1257	c.980G>A	c.(979-981)gGc>gAc	p.G327D	BRSK1_ENST00000590333.1_Missense_Mutation_p.G343D|BRSK1_ENST00000326848.7_Missense_Mutation_p.G22D|BRSK1_ENST00000585418.1_Missense_Mutation_p.G327D	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	327	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.G327D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCATCACTGGGCTGCTTCAGG	0.682																																																1	Substitution - Missense(1)	ovary(1)	19											62	52	55					19																	55814187		2203	4300	6503	60505999	SO:0001583	missense	84446			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.980G>A	19.37:g.55814187G>A	ENSP00000310649:p.Gly327Asp		60505999	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	29.3	4.991245	0.93106	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.74002	-0.8;0.51	4.69	4.69	0.59074	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.000000	0.85682	D	0.000000	D	0.86678	0.5990	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88843	0.3314	10	0.87932	D	0	.	16.7703	0.85535	0.0:0.0:1.0:0.0	.	327;343	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	D	327;22;22	ENSP00000310649:G327D;ENSP00000320853:G22D	ENSP00000310649:G327D	G	+	2	0	BRSK1	60505999	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.347000	0.97059	2.345000	0.79718	0.655000	0.94253	GGC		0.682	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		A	55814187	G	A	55814187	3	1	6	1	0	0	0	0	1	0	0	0	1523	1203	42	2	1018	2	BRSK1	19	55814187	Missense_Mutation	SNP	G	TCGA-04-1342-01A-01W-0486-08	413108	55814187	3314796	29	385											
L1CAM	3897	broad.mit.edu	37	X	153129865	153129865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1342-01A-01W-0486-08	TCGA-04-1342-11A-01W-0487-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6d6e1264-33ec-40e6-adc1-f615cd65f95c	f9bf2033-8805-44aa-910c-c64bd388d4d3	g.chrX:153129865C>T	ENST00000370060.1	-	25	3423	c.3234G>A	c.(3232-3234)tgG>tgA	p.W1078*	L1CAM_ENST00000370055.1_Nonsense_Mutation_p.W1073*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.W1073*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.W1080*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.W1078*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.W1078*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.W1080*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1078	Fibronectin type-III 5. {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.W1078*(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)					GCTGCAGGTCCCACTGCGTGT	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	X											141	123	130					X																	153129865		2203	4300	6503	152783059	SO:0001587	stop_gained	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.3234G>A	X.37:g.153129865C>T	ENSP00000359077:p.Trp1078*		152783059	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Nonsense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847699	0.91277	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	.	.	.	4.55	4.55	0.56014	.	0.430644	0.20032	N	0.100688	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.937	0.52878	0.0:1.0:0.0:0.0	.	.	.	.	X	1078;1080;1078;1080;1073;1073;23;1078	.	ENSP00000355380:W1078X	W	-	3	0	L1CAM	152783059	0.981000	0.34729	0.974000	0.42286	0.925000	0.55904	1.398000	0.34554	1.848000	0.53677	0.468000	0.43344	TGG		0.582	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		T	153129865	C	T	153129865	4	4	6	1	0	0	0	0	0	1	0	0	8588	624	22	2	559	2	L1CAM	23	153129865	Nonsense_Mutation	SNP	C	TCGA-04-1342-01A-01W-0486-08		153129865	2140695	30	386											
IGSF21	84966	genome.wustl.edu	37	1	18704791	18704791	+	Missense_Mutation	SNP	G	G	A	rs201364974	byFrequency	TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr1:18704791G>A	ENST00000251296.1	+	10	1758	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	459						extracellular region (GO:0005576)		p.A459T(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CTTGGTGCTCGCCCTGACAGT	0.582													G|||	3	0.000599042	0	0.0014	5008	,	,		14577	0		0.001	False		,,,				2504	0.001															2	Substitution - Missense(2)	ovary(1)|prostate(1)	1						G	THR/ALA	0,4406		0,0,2203	52	47	49		1375	3.5	1	1		49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IGSF21	NM_032880.4	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	459/468	18704791	2,13004	2203	4300	6503	18577378	SO:0001583	missense	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1375G>A	1.37:g.18704791G>A	ENSP00000251296:p.Ala459Thr		18577378	Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	CCDS184.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.87	2.066630	0.36470	0.0	2.33E-4	ENSG00000117154	ENST00000251296	T	0.52983	0.64	5.39	3.54	0.40534	.	0.591091	0.17376	N	0.176496	T	0.25644	0.0624	N	0.12182	0.205	0.33490	D	0.588584	B	0.21147	0.052	B	0.06405	0.002	T	0.24657	-1.0154	10	0.23302	T	0.38	-12.4312	7.5838	0.27980	0.3209:0.0:0.6791:0.0	.	459	Q96ID5	IGS21_HUMAN	T	459	ENSP00000251296:A459T	ENSP00000251296:A459T	A	+	1	0	IGSF21	18577378	0.969000	0.33509	0.994000	0.49952	0.963000	0.63663	0.511000	0.22739	0.794000	0.33899	0.561000	0.74099	GCC		0.582	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		A	18704791	G	A	18704791	3	1	7	1	0	0	0	0	1	0	0	0	7599	1087	38	1	1413	1	IGSF21	1	18704791	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09		18704791	230545830	1	387											
IL12RB2	3595	genome.wustl.edu	37	1	67795362	67795362	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr1:67795362C>A	ENST00000262345.1	+	6	1397	c.757C>A	c.(757-759)Ctg>Atg	p.L253M	IL12RB2_ENST00000371000.1_Missense_Mutation_p.L253M|IL12RB2_ENST00000541374.1_Missense_Mutation_p.L253M|IL12RB2_ENST00000544434.1_Missense_Mutation_p.L253M	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.L253M(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGGACTGGTACTGCTTAATCG	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											142	135	138					1																	67795362		2203	4300	6503	67567950	SO:0001583	missense	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.757C>A	1.37:g.67795362C>A	ENSP00000262345:p.Leu253Met		67567950	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.684|8.684	0.905832|0.905832	0.17760|0.17760	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434|ENST00000441640	T;T;T;T|.	0.58797|.	0.31;0.31;0.31;0.31|.	5.2|5.2	-0.482|-0.482	0.12078|0.12078	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	1.301510|.	0.04683|.	N|.	0.412781|.	T|T	0.10337|0.10337	0.0253|0.0253	L|L	0.41236|0.41236	1.265|1.265	0.26413|0.26413	N|N	0.976233|0.976233	B;P;B;B|.	0.38335|.	0.394;0.627;0.168;0.278|.	B;B;B;B|.	0.36030|.	0.079;0.216;0.107;0.057|.	T|T	0.31806|0.31806	-0.9930|-0.9930	10|5	0.62326|.	D|.	0.03|.	-3.8341|-3.8341	0.7912|0.7912	0.01057|0.01057	0.3116:0.3375:0.1631:0.1878|0.3116:0.3375:0.1631:0.1878	.|.	253;253;253;253|.	B4DGA4;F5H7L6;Q99665-2;Q99665|.	.;.;.;I12R2_HUMAN|.	M|N	253|120	ENSP00000262345:L253M;ENSP00000360039:L253M;ENSP00000445276:L253M;ENSP00000442443:L253M|.	ENSP00000262345:L253M|.	L|T	+|+	1|2	2|0	IL12RB2|IL12RB2	67567950|67567950	0.021000|0.021000	0.18746|0.18746	0.914000|0.914000	0.36105|0.36105	0.363000|0.363000	0.29612|0.29612	-0.190000|-0.190000	0.09615|0.09615	0.243000|0.243000	0.21327|0.21327	0.561000|0.561000	0.74099|0.74099	CTG|ACT		0.418	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		A	67795362	C	A	67795362	3	1	7	1	0	0	0	0	1	0	0	0	7627	564	20	3	775	3	IL12RB2	1	67795362	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	49090571	67795362	181455259	2	388											
TYW3	127253	genome.wustl.edu	37	1	75202277	75202277	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr1:75202277A>G	ENST00000370867.3	+	2	315	c.226A>G	c.(226-228)Aca>Gca	p.T76A	TYW3_ENST00000479111.1_5'UTR|TYW3_ENST00000421739.2_Intron|TYW3_ENST00000457880.2_Missense_Mutation_p.T76A	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	76					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.T76A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GCTACTGGTTACACACAAACT	0.234																																																1	Substitution - Missense(1)	ovary(1)	1											45	54	51					1																	75202277		2201	4285	6486	74974865	SO:0001583	missense	127253			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"chromosome 1 open reading frame 171"	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.226A>G	1.37:g.75202277A>G	ENSP00000359904:p.Thr76Ala		74974865	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	CCDS666.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.483884	0.44147	.	.	ENSG00000162623	ENST00000457880;ENST00000370867	T;T	0.29917	1.55;1.55	5.71	3.26	0.37387	tRNA wybutosine-synthesizing protein (2);	0.205143	0.49916	D	0.000134	T	0.29588	0.0738	M	0.83953	2.67	0.80722	D	1	P;B	0.44659	0.84;0.412	P;B	0.48334	0.574;0.345	T	0.07009	-1.0795	10	0.45353	T	0.12	-11.3457	9.9647	0.41717	0.729:0.0:0.0:0.271	.	76;76	E9PGR7;Q6IPR3	.;TYW3_HUMAN	A	76	ENSP00000407025:T76A;ENSP00000359904:T76A	ENSP00000359904:T76A	T	+	1	0	TYW3	74974865	0.994000	0.37717	0.962000	0.40283	0.858000	0.48976	3.174000	0.50847	0.362000	0.24319	0.477000	0.44152	ACA		0.234	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		G	75202277	A	G	75202277	3	3	7	1	0	0	0	0	1	0	0	0	16820	391	14	4	232	4	TYW3	1	75202277	Missense_Mutation	SNP	A	TCGA-04-1343-01A-01W-0488-09	7406915	75202277	174048344	3	389											
DPYD	1806	genome.wustl.edu	37	1	98015254	98015254	+	Silent	SNP	T	T	G			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr1:98015254T>G	ENST00000370192.3	-	12	1486	c.1386A>C	c.(1384-1386)ccA>ccC	p.P462P		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	462					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.P462P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GATCTACTTCTGGGAGACCCC	0.398																																																1	Substitution - coding silent(1)	ovary(1)	1											90	80	84					1																	98015254		2203	4300	6503	97787842	SO:0001819	synonymous_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1386A>C	1.37:g.98015254T>G			97787842	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																				0.398	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		G	98015254	T	G	98015254	2	3	7	1	0	0	0	0	0	0	0	1	4745	1567	55	5		5	DPYD	1	98015254	Silent	SNP	T	TCGA-04-1343-01A-01W-0488-09	22812977	98015254	151235367	4	390											
OLFM3	118427	genome.wustl.edu	37	1	102290780	102290780	+	Missense_Mutation	SNP	C	C	G	rs373338533		TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr1:102290780C>G	ENST00000338858.5	-	4	453	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	OLFM3_ENST00000370103.4_Missense_Mutation_p.E132Q|OLFM3_ENST00000536598.1_Missense_Mutation_p.E57Q|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.E152Q			Q96PB7	NOE3_HUMAN	olfactomedin 3	152					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.E132Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGCAGGAGCTCGTCCATTTTC	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											74	73	73					1																	102290780		2203	4300	6503	102063368	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.454G>C	1.37:g.102290780C>G	ENSP00000345192:p.Glu152Gln		102063368	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	C	12.69	2.013385	0.35511	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.89746	-2.56;-2.54;-0.78;0.32	5.8	5.8	0.92144	.	0.311762	0.34959	N	0.003550	T	0.81034	0.4739	L	0.36672	1.1	0.38023	D	0.934921	B;B	0.32160	0.082;0.358	B;B	0.31547	0.045;0.132	T	0.80313	-0.1435	10	0.42905	T	0.14	.	20.0452	0.97606	0.0:1.0:0.0:0.0	.	132;152	Q5T3V6;Q96PB7	.;NOE3_HUMAN	Q	3;132;152;57;152	ENSP00000359121:E132Q;ENSP00000345192:E152Q;ENSP00000443471:E57Q;ENSP00000352867:E152Q	ENSP00000345192:E152Q	E	-	1	0	OLFM3	102063368	0.994000	0.37717	0.957000	0.39632	0.470000	0.32858	3.221000	0.51215	2.742000	0.94016	0.655000	0.94253	GAG		0.413	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			G	102290780	C	G	102290780	3	3	7	1	0	0	0	0	1	0	0	0	10854	893	31	3	994	3	OLFM3	1	102290780	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	4275526	102290780	146959841	5	391											
OR2T6	254879	genome.wustl.edu	37	1	248551073	248551073	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr1:248551073T>C	ENST00000355728.2	+	1	164	c.164T>C	c.(163-165)cTc>cCc	p.L55P		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L55P(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACCCTCATCTCCACACCCCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											232	183	200					1																	248551073		2203	4300	6503	246617696	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.164T>C	1.37:g.248551073T>C	ENSP00000347965:p.Leu55Pro		246617696	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.513684	0.64522	.	.	ENSG00000198104	ENST00000355728	T	0.14893	2.47	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37095	N	0.002260	T	0.61426	0.2346	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79152	-0.1921	10	0.87932	D	0	.	13.6971	0.62587	0.0:0.0:0.0:1.0	.	55	Q8NHC8	OR2T6_HUMAN	P	55	ENSP00000347965:L55P	ENSP00000347965:L55P	L	+	2	0	OR2T6	246617696	1.000000	0.71417	0.926000	0.36857	0.698000	0.40448	6.895000	0.75660	1.962000	0.57031	0.523000	0.50628	CTC		0.468	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		C	248551073	T	C	248551073	3	2	7	1	0	0	0	0	1	0	0	0	11029	1551	54	4	166	4	OR2T6	1	248551073	Missense_Mutation	SNP	T	TCGA-04-1343-01A-01W-0488-09	146260293	248551073	699548	6	392											
SOCS5	9655	genome.wustl.edu	37	2	46986955	46986955	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr2:46986955G>A	ENST00000306503.5	+	2	1458	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.R429Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	429	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.R429L(1)|p.R429Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTGCATGCCCGAATTGAGCAG	0.498																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	2											103	101	102					2																	46986955		2203	4300	6503	46840459	SO:0001583	missense	9655			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1286G>A	2.37:g.46986955G>A	ENSP00000305133:p.Arg429Gln		46840459	Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060002	0.55325	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.89270	-2.49;-2.49	5.43	3.64	0.41730	SH2 motif (4);	0.056973	0.64402	D	0.000001	D	0.93916	0.8053	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93888	0.7177	10	0.87932	D	0	-11.2549	11.8239	0.52256	0.1425:0.0:0.8575:0.0	.	429	O75159	SOCS5_HUMAN	Q	429	ENSP00000305133:R429Q;ENSP00000378330:R429Q	ENSP00000305133:R429Q	R	+	2	0	SOCS5	46840459	1.000000	0.71417	0.715000	0.30552	0.898000	0.52572	9.657000	0.98554	0.867000	0.35654	-0.136000	0.14681	CGA		0.498	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			A	46986955	G	A	46986955	3	1	7	1	0	0	0	0	1	0	0	0	14920	1058	37	1	1288	1	SOCS5	2	46986955	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09		46986955	196212418	7	393											
LRP1B	53353	genome.wustl.edu	37	2	141259297	141259297	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr2:141259297C>T	ENST00000389484.3	-	55	9780	c.8809G>A	c.(8809-8811)Gga>Aga	p.G2937R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2937	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G2937R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAGAACATCCACTGACTTTC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											119	123	122					2																	141259297		2203	4300	6503	140975767	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8809G>A	2.37:g.141259297C>T	ENSP00000374135:p.Gly2937Arg		140975767	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999307	0.93227	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87809	-2.3	5.41	5.41	0.78517	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.000000	0.85682	U	0.000000	D	0.93514	0.7930	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90703	0.4622	10	0.16420	T	0.52	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	2937	Q9NZR2	LRP1B_HUMAN	R	2937;2875	ENSP00000374135:G2937R	ENSP00000374135:G2937R	G	-	1	0	LRP1B	140975767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.013000	0.70776	2.705000	0.92388	0.585000	0.79938	GGA		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141259297	C	T	141259297	3	4	7	1	0	0	0	0	1	0	0	0	8955	603	21	2	5138	2	LRP1B	2	141259297	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	94272342	141259297	101940076	8	394											
NR4A2	4929	genome.wustl.edu	37	2	157185866	157185866	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr2:157185866C>T	ENST00000339562.4	-	3	1195	c.833G>A	c.(832-834)cGc>cAc	p.R278H	NR4A2_ENST00000409572.1_Missense_Mutation_p.R278H|NR4A2_ENST00000539077.1_Missense_Mutation_p.R289H|NR4A2_ENST00000426264.1_Missense_Mutation_p.R215H|NR4A2_ENST00000409108.2_Missense_Mutation_p.R278H|NR4A2_ENST00000429376.1_Missense_Mutation_p.R215H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	278					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R278H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCACAGGTGCGCACGCCGTA	0.677																																																1	Substitution - Missense(1)	ovary(1)	2											26	25	25					2																	157185866		2203	4300	6503	156894112	SO:0001583	missense	4929			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.833G>A	2.37:g.157185866C>T	ENSP00000344479:p.Arg278His		156894112	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629814	0.87660	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	D;D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	5.91	5.91	0.95273	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	N	0.25094	0.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97223	0.9879	10	0.59425	D	0.04	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	278	P43354	NR4A2_HUMAN	H	278;215;278;289;278;215	ENSP00000344479:R278H;ENSP00000389986:R215H;ENSP00000386747:R278H;ENSP00000444925:R289H;ENSP00000386993:R278H;ENSP00000410952:R215H	ENSP00000344479:R278H	R	-	2	0	NR4A2	156894112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.793000	0.96121	0.655000	0.94253	CGC		0.677	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			T	157185866	C	T	157185866	3	4	7	1	0	0	0	0	1	0	0	0	10633	768	27	1	987	1	NR4A2	2	157185866	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	15926569	157185866	86013507	9	395											
TBR1	10716	genome.wustl.edu	37	2	162273383	162273383	+	Silent	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr2:162273383C>T	ENST00000389554.3	+	1	779	c.462C>T	c.(460-462)aaC>aaT	p.N154N	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	154					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N154N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCATCACCAACGGAGCCTACA	0.672																																																1	Substitution - coding silent(1)	ovary(1)	2											66	69	68					2																	162273383		2203	4300	6503	161981629	SO:0001819	synonymous_variant	10716			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.462C>T	2.37:g.162273383C>T			161981629	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	CCDS33310.1																																																																																				0.672	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		T	162273383	C	T	162273383	2	4	7	1	0	0	0	0	0	0	0	1	15647	535	19	1		1	TBR1	2	162273383	Silent	SNP	C	TCGA-04-1343-01A-01W-0488-09	5087517	162273383	80925990	10	396											
SCN3A	6328	genome.wustl.edu	37	2	165994624	165994624	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr2:165994624A>T	ENST00000360093.3	-	15	2647	c.2156T>A	c.(2155-2157)cTt>cAt	p.L719H	SCN3A_ENST00000283254.7_Missense_Mutation_p.L719H|SCN3A_ENST00000409101.3_Missense_Mutation_p.L670H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	719					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L719H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGATTCTTCAAGTTCTGGAGG	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											63	65	64					2																	165994624		2203	4299	6502	165702870	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2156T>A	2.37:g.165994624A>T	ENSP00000353206:p.Leu719His		165702870	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	A	18.93	3.727673	0.69074	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96856	-4.15;-4.15;-4.07;-3.96	5.76	5.76	0.90799	.	0.000000	0.53938	D	0.000050	D	0.98661	0.9551	H	0.94423	3.535	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.992;0.995;0.998;0.998;0.997	D	0.99597	1.0977	10	0.62326	D	0.03	.	16.3786	0.83431	1.0:0.0:0.0:0.0	.	719;670;670;670;719	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	H	719;719;670;670	ENSP00000353206:L719H;ENSP00000283254:L719H;ENSP00000386726:L670H;ENSP00000403348:L670H	ENSP00000283254:L719H	L	-	2	0	SCN3A	165702870	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.287000	0.95975	2.323000	0.78572	0.528000	0.53228	CTT		0.333	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		T	165994624	A	T	165994624	3	4	7	1	0	0	0	0	1	0	0	0	13921	72	3	5	3902	5	SCN3A	2	165994624	Missense_Mutation	SNP	A	TCGA-04-1343-01A-01W-0488-09	3721241	165994624	77204749	11	397											
LRP2	4036	genome.wustl.edu	37	2	170044680	170044680	+	Missense_Mutation	SNP	C	C	T	rs143078432		TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr2:170044680C>T	ENST00000263816.3	-	49	9413	c.9128G>A	c.(9127-9129)cGc>cAc	p.R3043H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3043	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3043H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACTAATGCAGCGCCCGTTCTG	0.517																																																1	Substitution - Missense(1)	ovary(1)	2						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	142	134	137		9128	0.2	0.3	2	dbSNP_134	137	0,8600		0,0,4300	no	missense	LRP2	NM_004525.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	3043/4656	170044680	1,13005	2203	4300	6503	169752926	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9128G>A	2.37:g.170044680C>T	ENSP00000263816:p.Arg3043His		169752926	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394317	0.83011	2.27E-4	0.0	ENSG00000081479	ENST00000263816	D	0.96041	-3.89	5.68	0.217	0.15264	.	0.436137	0.26159	N	0.025985	D	0.90570	0.7044	L	0.43757	1.38	0.80722	D	1	P	0.45283	0.855	B	0.38562	0.276	D	0.85430	0.1148	10	0.54805	T	0.06	.	8.5804	0.33626	0.2541:0.6156:0.0:0.1303	.	3043	P98164	LRP2_HUMAN	H	3043	ENSP00000263816:R3043H	ENSP00000263816:R3043H	R	-	2	0	LRP2	169752926	1.000000	0.71417	0.322000	0.25334	0.874000	0.50279	2.327000	0.43858	-0.018000	0.14079	0.650000	0.86243	CGC		0.517	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170044680	C	T	170044680	3	4	7	1	0	0	0	0	1	0	0	0	8956	768	27	1	4963	1	LRP2	2	170044680	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	4050056	170044680	73154693	12	398											
TTN	7273	genome.wustl.edu	37	2	179633640	179633640	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr2:179633640G>C	ENST00000591111.1	-	38	9147	c.8923C>G	c.(8923-8925)Ctg>Gtg	p.L2975V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.L2975V|TTN_ENST00000589042.1_Missense_Mutation_p.L2975V|TTN_ENST00000342992.6_Missense_Mutation_p.L2975V|TTN_ENST00000359218.5_Missense_Mutation_p.L2929V|TTN_ENST00000460472.2_Missense_Mutation_p.L2929V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L2929V			Q8WZ42	TITIN_HUMAN	titin	13307	Ig-like 17.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L2975V(2)|p.L2929V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTCTTTCAGCATGGAAGTA	0.358																																																3	Substitution - Missense(3)	ovary(3)	2											111	104	107					2																	179633640		2203	4300	6503	179341885	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8923C>G	2.37:g.179633640G>C	ENSP00000465570:p.Leu2975Val		179341885	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	9.196	1.027362	0.19512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.45	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67487	0.2898	M	0.85542	2.76	0.25289	N	0.989377	D;D;D;D;D	0.76494	0.984;0.984;0.984;0.992;0.999	P;P;P;P;D	0.65443	0.802;0.802;0.802;0.883;0.935	T	0.57271	-0.7840	9	0.87932	D	0	.	9.6796	0.40061	0.2816:0.0:0.7184:0.0	.	2929;2929;2929;2975;2975	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2975;2929;2929;2929;2929;2975	ENSP00000343764:L2975V;ENSP00000434586:L2929V;ENSP00000340554:L2929V;ENSP00000352154:L2929V;ENSP00000354117:L2975V	ENSP00000340554:L2929V	L	-	1	2	TTN	179341885	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	3.199000	0.51043	0.795000	0.33922	-0.253000	0.11424	CTG		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179633640	G	C	179633640	3	2	7	1	0	0	0	0	1	0	0	0	16735	962	34	3	102365	3	TTN	2	179633640	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09	9588960	179633640	63565733	13	399											
CDK15	65061	genome.wustl.edu	37	2	202700416	202700416	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr2:202700416G>A	ENST00000374598.4	+	8	781	c.781G>A	c.(781-783)Gtg>Atg	p.V261M	CDK15_ENST00000450471.2_Missense_Mutation_p.V261M|CDK15_ENST00000260967.2_Missense_Mutation_p.V210M|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.V261M|CDK15_ENST00000410091.3_Missense_Mutation_p.V210M			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.V210L(1)|p.V210M(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TTCAGAAGTCGTGACCCTCTG	0.527																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	2											82	78	79					2																	202700416		2203	4300	6503	202408661	SO:0001583	missense	65061			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"Cyclin-dependent kinases"	14434	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7", "PFTAIRE protein kinase 2"	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.781G>A	2.37:g.202700416G>A	ENSP00000363726:p.Val261Met		202408661	A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37		.	.	.	.	.	.	.	.	.	.	G	32	5.154488	0.94686	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.62	5.62	0.85841	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	D	0.83312	0.5227	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.996	D	0.84366	0.0541	10	0.87932	D	0	-16.7409	20.02	0.97489	0.0:0.0:1.0:0.0	.	240;261;261	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	M	210;210;261;261;261	ENSP00000386901:V210M;ENSP00000260967:V210M;ENSP00000406472:V261M;ENSP00000412775:V261M;ENSP00000363726:V261M	ENSP00000260967:V210M	V	+	1	0	CDK15	202408661	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	9.605000	0.98321	2.809000	0.96659	0.557000	0.71058	GTG		0.527	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			A	202700416	G	A	202700416	3	1	7	1	0	0	0	0	1	0	0	0	3131	1145	40	1	654	1	CDK15	2	202700416	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09	23066776	202700416	40498957	14	400											
NGEF	25791	genome.wustl.edu	37	2	233759599	233759599	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr2:233759599C>A	ENST00000264051.3	-	6	1134	c.856G>T	c.(856-858)Gcg>Tcg	p.A286S	NGEF_ENST00000539537.1_Missense_Mutation_p.A9S|NGEF_ENST00000373552.4_Missense_Mutation_p.A194S|NGEF_ENST00000409079.1_Missense_Mutation_p.A194S	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	286	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A286S(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TAGTAGGACGCCTCGGAAGTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	2											118	104	109					2																	233759599		2203	4300	6503	233467843	SO:0001583	missense	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.856G>T	2.37:g.233759599C>A	ENSP00000264051:p.Ala286Ser		233467843	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.636871|4.636871	0.87760|0.87760	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735;ENST00000409079|ENST00000420650	T;T;T;T;T;T|.	0.63096|.	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74450|0.74450	0.3718|0.3718	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.986;1.0|.	D;D;D|.	0.87578|.	0.981;0.913;0.998|.	T|T	0.73382|0.73382	-0.4000|-0.4000	10|5	0.54805|.	T|.	0.06|.	-31.3689|-31.3689	18.7943|18.7943	0.91988|0.91988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	194;194;286|.	E9PC42;B4DMB8;Q8N5V2|.	.;.;NGEF_HUMAN|.	S|V	286;194;176;9;9;9;194|78	ENSP00000264051:A286S;ENSP00000362653:A194S;ENSP00000439035:A9S;ENSP00000401063:A9S;ENSP00000412614:A9S;ENSP00000387033:A194S|.	ENSP00000264051:A286S|.	A|G	-|-	1|2	0|0	NGEF|NGEF	233467843|233467843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.475000|0.475000	0.33008|0.33008	5.676000|5.676000	0.68131|0.68131	2.440000|2.440000	0.82611|0.82611	0.655000|0.655000	0.94253|0.94253	GCG|GGC		0.582	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		A	233759599	C	A	233759599	3	1	7	1	0	0	0	0	1	0	0	0	10394	739	26	3	1316	3	NGEF	2	233759599	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	31059183	233759599	9439774	15	401											
EOMES	8320	genome.wustl.edu	37	3	27760901	27760901	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr3:27760901C>T	ENST00000295743.4	-	3	1311	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.G370R|EOMES_ENST00000537516.1_Missense_Mutation_p.G75R			O95936	EOMES_HUMAN	eomesodermin	370					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G370R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTTAATTTCCCGAATGAAATC	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											227	208	214					3																	27760901		2203	4300	6503	27735905	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1108G>A	3.37:g.27760901C>T	ENSP00000295743:p.Gly370Arg		27735905	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881731	0.91740	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	T;T;T	0.80653	-1.4;-1.4;-1.4	5.83	5.83	0.93111	p53-like transcription factor, DNA-binding (1);	0.046925	0.85682	D	0.000000	D	0.88746	0.6520	L	0.60845	1.875	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.979;0.983;0.995;0.991	D	0.88648	0.3180	10	0.72032	D	0.01	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	84;370;370;370	B7Z4I2;F5H3K1;G3XAI5;O95936	.;.;.;EOMES_HUMAN	R	370;370;75;235	ENSP00000295743:G370R;ENSP00000388620:G370R;ENSP00000442097:G75R	ENSP00000295743:G370R	G	-	1	0	EOMES	27735905	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.352000	0.59404	2.769000	0.95229	0.655000	0.94253	GGG		0.413	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		T	27760901	C	T	27760901	3	4	7	1	0	0	0	0	1	0	0	0	5147	652	23	1	968	1	EOMES	3	27760901	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09		27760901	170261529	16	402											
DOCK3	1795	genome.wustl.edu	37	3	51370627	51370627	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr3:51370627C>A	ENST00000266037.9	+	35	3577	c.3554C>A	c.(3553-3555)aCc>aAc	p.T1185N		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1185					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.T1185N(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGCGCGAGACCGGCATTTCC	0.527																																																1	Substitution - Missense(1)	ovary(1)	3											123	123	123					3																	51370627		1945	4140	6085	51345667	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3554C>A	3.37:g.51370627C>A	ENSP00000266037:p.Thr1185Asn		51345667	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626624	0.66901	.	.	ENSG00000088538	ENST00000266037	T	0.22336	1.96	6.06	6.06	0.98353	.	0.042869	0.85682	D	0.000000	T	0.23210	0.0561	L	0.38175	1.15	0.58432	D	0.999992	P	0.41420	0.749	B	0.40602	0.334	T	0.00438	-1.1739	10	0.36615	T	0.2	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	1185	Q8IZD9	DOCK3_HUMAN	N	1185	ENSP00000266037:T1185N	ENSP00000266037:T1185N	T	+	2	0	DOCK3	51345667	1.000000	0.71417	0.967000	0.41034	0.933000	0.57130	4.829000	0.62737	2.879000	0.98667	0.650000	0.86243	ACC		0.527	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51370627	C	A	51370627	3	1	7	1	0	0	0	0	1	0	0	0	4688	507	18	3	3692	3	DOCK3	3	51370627	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	23609726	51370627	146651803	17	403											
ZBTB20	26137	genome.wustl.edu	37	3	114069418	114069418	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr3:114069418C>A	ENST00000474710.1	-	4	1685	c.1507G>T	c.(1507-1509)Gct>Tct	p.A503S	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.A430S|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A430S|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A430S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A430S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A430S|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A430S	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	503						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.A430S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTTGCCAGCTGTGCCAATG	0.607																																					NSCLC(69;748 1344 9802 11203 30933)											1	Substitution - Missense(1)	ovary(1)	3											91	63	72					3																	114069418		2203	4300	6503	115552108	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1507G>T	3.37:g.114069418C>A	ENSP00000419153:p.Ala503Ser		115552108	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493690	0.64186	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.11277	2.8;2.8;2.8;2.8;2.79;2.8;2.8	5.57	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.09113	0.0225	N	0.24115	0.695	0.58432	D	0.999999	B	0.19331	0.035	B	0.16722	0.016	T	0.15093	-1.0449	10	0.26408	T	0.33	.	16.3427	0.83092	0.0:0.8678:0.1322:0.0	.	503	Q9HC78	ZBT20_HUMAN	S	430;430;430;430;503;430;430	ENSP00000420324:A430S;ENSP00000377375:A430S;ENSP00000418092:A430S;ENSP00000419902:A430S;ENSP00000419153:A503S;ENSP00000349803:A430S;ENSP00000417307:A430S	ENSP00000349803:A430S	A	-	1	0	ZBTB20	115552108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.449000	0.80643	1.314000	0.45095	0.557000	0.71058	GCT		0.607	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		A	114069418	C	A	114069418	3	1	7	1	0	0	0	0	1	0	0	0	17529	797	28	3	726	3	ZBTB20	3	114069418	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	62698791	114069418	83953012	18	404											
TMEM108	66000	genome.wustl.edu	37	3	133099417	133099417	+	Missense_Mutation	SNP	G	G	A	rs200944613		TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr3:133099417G>A	ENST00000321871.6	+	4	1072	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	TMEM108_ENST00000515826.1_Missense_Mutation_p.G288S|TMEM108_ENST00000393130.3_Missense_Mutation_p.G288S|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	288						integral component of membrane (GO:0016021)		p.G288S(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCAGGGGGGTGGTTCTACCTT	0.647																																																1	Substitution - Missense(1)	ovary(1)	3						G	SER/GLY,SER/GLY	0,4406		0,0,2203	35	33	34		862,862	1.2	0.1	3		34	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TMEM108	NM_023943.2,NM_001136469.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	288/576,288/576	133099417	1,13005	2203	4300	6503	134582107	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.862G>A	3.37:g.133099417G>A	ENSP00000324651:p.Gly288Ser		134582107	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	G	5.364	0.252478	0.10185	0.0	1.16E-4	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.60424	0.41;0.41;0.19	4.24	1.25	0.21368	.	0.499516	0.19013	N	0.125027	T	0.44912	0.1316	L	0.60455	1.87	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.14578	0.011;0.002	T	0.27365	-1.0076	10	0.29301	T	0.29	-0.7635	2.862	0.05590	0.1717:0.1412:0.5426:0.1446	.	288;288	E9PB58;Q6UXF1	.;TM108_HUMAN	S	288	ENSP00000324651:G288S;ENSP00000376838:G288S;ENSP00000423338:G288S	ENSP00000324651:G288S	G	+	1	0	TMEM108	134582107	0.236000	0.23804	0.142000	0.22268	0.393000	0.30537	0.940000	0.28992	0.331000	0.23511	-0.254000	0.11334	GGT		0.647	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		A	133099417	G	A	133099417	3	1	7	1	0	0	0	0	1	0	0	0	16024	1348	47	2	868	2	TMEM108	3	133099417	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09	19029999	133099417	64923013	19	405											
TIGD4	201798	genome.wustl.edu	37	4	153691680	153691680	+	Silent	SNP	C	C	T	rs141579935		TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr4:153691680C>T	ENST00000304337.2	-	2	1297	c.477G>A	c.(475-477)tcG>tcA	p.S159S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	159						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S159S(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACCAGACAGTCGAAGGGTCTA	0.363													C|||	1	0.000199681	0	0	5008	,	,		19295	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	4						C		0,4404		0,0,2202	43	46	45		477	-6.8	0	4	dbSNP_134	45	3,8593	3.0+/-9.4	0,3,4295	no	coding-synonymous	TIGD4	NM_145720.3		0,3,6497	TT,TC,CC		0.0349,0.0,0.0231		159/513	153691680	3,12997	2202	4298	6500	153911130	SO:0001819	synonymous_variant	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.477G>A	4.37:g.153691680C>T			153911130	Q96LP5	Silent	SNP	ENST00000304337.2	37	CCDS34079.1																																																																																				0.363	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		T	153691680	C	T	153691680	2	4	7	1	0	0	0	0	0	0	0	1	15898	871	31	1		1	TIGD4	4	153691680	Silent	SNP	C	TCGA-04-1343-01A-01W-0488-09		153691680	37462596	20	406											
C5orf33	133686	genome.wustl.edu	37	5	36217947	36217947	+	Silent	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr5:36217947C>T	ENST00000381937.4	-	6	683	c.684G>A	c.(682-684)ggG>ggA	p.G228G	NADK2_ENST00000397338.1_Silent_p.G65G|NADK2_ENST00000506945.1_Silent_p.G65G|NADK2_ENST00000282512.3_Silent_p.G65G|NADK2_ENST00000514504.1_Silent_p.G228G	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	228					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)	p.G65G(1)									TTATGCCAGTCCCTTCAAGGT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	5											144	127	133					5																	36217947		2203	4300	6503	36253704	SO:0001819	synonymous_variant	133686			BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.684G>A	5.37:g.36217947C>T			36253704	B5MC93|Q6UTX5|Q96NM0	Silent	SNP	ENST00000381937.4	37	CCDS47197.1																																																																																				0.388	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		T	36217947	C	T	36217947	2	4	7	1	0	0	0	0	0	0	0	1	2292	842	30	2		2	C5orf33	5	36217947	Silent	SNP	C	TCGA-04-1343-01A-01W-0488-09		36217947	144697313	21	407											
RAB3C	115827	genome.wustl.edu	37	5	58021919	58021919	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr5:58021919G>A	ENST00000282878.4	+	3	512	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RAB3C_ENST00000507977.1_3'UTR	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	115					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.E115K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CATTACAAATGAAGAATCCTT	0.398																																																1	Substitution - Missense(1)	ovary(1)	5											119	114	116					5																	58021919		2203	4300	6503	58057676	SO:0001583	missense	115827			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.343G>A	5.37:g.58021919G>A	ENSP00000282878:p.Glu115Lys		58057676		Missense_Mutation	SNP	ENST00000282878.4	37	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574524	0.96553	.	.	ENSG00000152932	ENST00000282878	T	0.76839	-1.05	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000016	T	0.69242	0.3089	N	0.05619	-0.005	0.80722	D	1	P	0.40909	0.732	P	0.44860	0.462	T	0.75679	-0.3234	10	0.72032	D	0.01	-15.1661	19.4713	0.94963	0.0:0.0:1.0:0.0	.	115	Q96E17	RAB3C_HUMAN	K	115	ENSP00000282878:E115K	ENSP00000282878:E115K	E	+	1	0	RAB3C	58057676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.808000	0.99193	2.587000	0.87381	0.563000	0.77884	GAA		0.398	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		A	58021919	G	A	58021919	3	1	7	1	0	0	0	0	1	0	0	0	12936	1291	45	2	353	2	RAB3C	5	58021919	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09	21803972	58021919	122893341	22	408											
PCDHGA5	56110	genome.wustl.edu	37	5	140746310	140746310	+	Nonsense_Mutation	SNP	C	C	T	rs561614642		TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr5:140746310C>T	ENST00000518069.1	+	1	2413	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	805					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R805*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAACGGCGAGTTCAGGT	0.418													.|||	1	0.000199681	0	0	5008	,	,		20283	0.001		0	False		,,,				2504	0															1	Substitution - Nonsense(1)	ovary(1)	5											106	117	113					5																	140746310		2133	4256	6389	140726494	SO:0001587	stop_gained	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2413C>T	5.37:g.140746310C>T	ENSP00000429834:p.Arg805*		140726494	Q2M3F5|Q9Y5D2	Nonsense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	19.54	3.846730	0.71603	.	.	ENSG00000253485	ENST00000518069	.	.	.	5.31	-1.0	0.10196	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	2.1091	0.03698	0.3753:0.3121:0.204:0.1085	.	.	.	.	X	805	.	ENSP00000429834:R805X	R	+	1	2	PCDHGA5	140726494	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	0.701000	0.25616	0.069000	0.16605	-0.867000	0.03001	CGA		0.418	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		T	140746310	C	T	140746310	4	4	7	1	0	0	0	0	0	1	0	0	11557	760	27	1	2415	1	PCDHGA5	5	140746310	Nonsense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	82724391	140746310	40168950	23	409											
DUSP1	1843	genome.wustl.edu	37	5	172196695	172196695	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr5:172196695C>T	ENST00000239223.3	-	3	858	c.616G>A	c.(616-618)Gtc>Atc	p.V206I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	206	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.V206I(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TTGGCTGAGACGTTGATCAAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	5											214	180	192					5																	172196695		2203	4300	6503	172129301	SO:0001583	missense	1843			X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.616G>A	5.37:g.172196695C>T	ENSP00000239223:p.Val206Ile		172129301	D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226031	0.95173	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.62498	0.02	5.32	5.32	0.75619	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	M	0.72576	2.205	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.996	T	0.81623	-0.0849	10	0.87932	D	0	.	19.0154	0.92892	0.0:1.0:0.0:0.0	.	206;163	P28562;B4DNT2	DUS1_HUMAN;.	I	206;179;141	ENSP00000239223:V206I	ENSP00000239223:V206I	V	-	1	0	DUSP1	172129301	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.783000	0.85696	2.498000	0.84270	0.561000	0.74099	GTC		0.547	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		T	172196695	C	T	172196695	3	4	7	1	0	0	0	0	1	0	0	0	4809	536	19	1	495	1	DUSP1	5	172196695	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	31450385	172196695	8718565	24	410											
BOD1	91272	genome.wustl.edu	37	5	173040254	173040254	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr5:173040254G>A	ENST00000311086.4	-	2	465	c.242C>T	c.(241-243)gCt>gTt	p.A81V	BOD1_ENST00000285908.5_Missense_Mutation_p.A81V|BOD1_ENST00000471339.1_5'UTR|BOD1_ENST00000480951.1_Intron	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	81					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)		p.A81V(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GTTTTGGTAAGCTGGCTAAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	5											138	128	131					5																	173040254		2203	4300	6503	172972860	SO:0001583	missense	91272			AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"biorientation defective 1"		"family with sequence similarity 44, member B"	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.242C>T	5.37:g.173040254G>A	ENSP00000309644:p.Ala81Val		172972860	B4DXH8|Q9BTW1	Missense_Mutation	SNP	ENST00000311086.4	37	CCDS4389.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572754	0.86542	.	.	ENSG00000145919	ENST00000311086;ENST00000285908	T	0.26067	1.76	5.05	5.05	0.67936	.	0.049871	0.85682	D	0.000000	T	0.52058	0.1711	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.982	T	0.56679	-0.7939	10	0.87932	D	0	-8.3935	18.4336	0.90636	0.0:0.0:1.0:0.0	.	81;81	Q96IK1-2;Q96IK1	.;BOD1_HUMAN	V	81	ENSP00000309644:A81V	ENSP00000285908:A81V	A	-	2	0	BOD1	172972860	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.496000	0.81526	2.354000	0.79902	0.655000	0.94253	GCT		0.393	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252963.1	NM_138369		A	173040254	G	A	173040254	3	1	7	1	0	0	0	0	1	0	0	0	1482	971	34	2	355	2	BOD1	5	173040254	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09	843559	173040254	7875006	25	411											
RREB1	6239	genome.wustl.edu	37	6	7248752	7248752	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr6:7248752C>G	ENST00000349384.6	+	12	4929	c.4615C>G	c.(4615-4617)Cca>Gca	p.P1539A	RREB1_ENST00000334984.6_Missense_Mutation_p.P1328A|RREB1_ENST00000379938.2_Missense_Mutation_p.P1594A|RREB1_ENST00000379933.3_Missense_Mutation_p.P1539A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1539					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1539A(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGGGAAAGGCCATACAAATG	0.542																																																1	Substitution - Missense(1)	ovary(1)	6											67	65	65					6																	7248752		2203	4300	6503	7193751	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4615C>G	6.37:g.7248752C>G	ENSP00000305560:p.Pro1539Ala		7193751	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387459	0.82902	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.20069	2.34;2.34;2.34;2.1	5.7	5.7	0.88788	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.46908	0.1417	M	0.82630	2.6	0.45025	D	0.998043	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.989	T	0.51419	-0.8708	10	0.87932	D	0	-31.1174	19.8411	0.96685	0.0:1.0:0.0:0.0	.	1328;1539;1594	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	A	1539;1594;1539;1328	ENSP00000369265:P1539A;ENSP00000369270:P1594A;ENSP00000305560:P1539A;ENSP00000335574:P1328A	ENSP00000335574:P1328A	P	+	1	0	RREB1	7193751	1.000000	0.71417	0.991000	0.47740	0.871000	0.50021	7.275000	0.78548	2.683000	0.91414	0.655000	0.94253	CCA		0.542	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			G	7248752	C	G	7248752	3	3	7	1	0	0	0	0	1	0	0	0	13682	739	26	3	4818	3	RREB1	6	7248752	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09		7248752	163866315	26	412											
TUBB	203068	genome.wustl.edu	37	6	30691259	30691259	+	Silent	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr6:30691259C>T	ENST00000327892.8	+	4	726	c.420C>T	c.(418-420)ggC>ggT	p.G140G	TUBB_ENST00000330914.3_Silent_p.G68G|TUBB_ENST00000396389.1_Silent_p.G122G|TUBB_ENST00000435534.1_Intron|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_Silent_p.G68G	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	140					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G140G(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	ACTCACTGGGCGGGGGCACAG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	6											63	63	63					6																	30691259		2203	4300	6503	30799238	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.420C>T	6.37:g.30691259C>T			30799238	P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	CCDS4687.1																																																																																				0.577	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		T	30691259	C	T	30691259	2	4	7	1	0	0	0	0	0	0	0	1	16752	755	27	1		1	TUBB	6	30691259	Silent	SNP	C	TCGA-04-1343-01A-01W-0488-09	23442507	30691259	140423808	27	413											
ZBTB22	9278	genome.wustl.edu	37	6	33284546	33284546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr6:33284546G>A	ENST00000431845.2	-	2	299	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Nonsense_Mutation_p.Q50*|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q50*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGCAGACGCTGCTGATTGAGG	0.632																																																1	Substitution - Nonsense(1)	ovary(1)	6											47	49	48					6																	33284546		2203	4300	6503	33392524	SO:0001587	stop_gained	9278			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.148C>T	6.37:g.33284546G>A	ENSP00000407545:p.Gln50*		33392524	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Nonsense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155095	0.94686	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9109	0.70755	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000404403:Q50X	Q	-	1	0	ZBTB22	33392524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.619000	0.98369	2.374000	0.81015	0.643000	0.83706	CAG		0.632	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			A	33284546	G	A	33284546	4	1	7	1	0	0	0	0	0	1	0	0	17530	1328	46	2	1760	2	ZBTB22	6	33284546	Nonsense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09	2593287	33284546	137830521	28	414											
PREP	5550	genome.wustl.edu	37	6	105736641	105736641	+	Silent	SNP	G	G	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr6:105736641G>A	ENST00000369110.3	-	11	1638	c.1446C>T	c.(1444-1446)ccC>ccT	p.P482P		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	482					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.P482P(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACCTGTAGTTGGGTGTGATGG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	6											104	102	103					6																	105736641		2203	4300	6503	105843334	SO:0001819	synonymous_variant	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1446C>T	6.37:g.105736641G>A			105843334	Q8N6D4	Silent	SNP	ENST00000369110.3	37	CCDS5053.1																																																																																				0.398	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			A	105736641	G	A	105736641	2	1	7	1	0	0	0	0	0	0	0	1	12477	1335	47	2		2	PREP	6	105736641	Silent	SNP	G	TCGA-04-1343-01A-01W-0488-09	72452095	105736641	65378426	29	415											
LOXL2	4017	genome.wustl.edu	37	8	23217671	23217671	+	Missense_Mutation	SNP	C	C	T	rs370732859		TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr8:23217671C>T	ENST00000389131.3	-	3	832	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	155	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.G155S(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACACCACACCGACATCCTCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	8						C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	118	99	106		463	5.6	1	8		106	0,8600		0,0,4300	no	missense	LOXL2	NM_002318.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	155/775	23217671	1,13005	2203	4300	6503	23273616	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.463G>A	8.37:g.23217671C>T	ENSP00000373783:p.Gly155Ser		23273616	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	36	5.732672	0.96856	2.27E-4	0.0	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871	T;T;T	0.38560	1.13;1.13;1.13	5.62	5.62	0.85841	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62343	-0.6874	10	0.48119	T	0.1	.	18.5877	0.91196	0.0:1.0:0.0:0.0	.	155	Q9Y4K0	LOXL2_HUMAN	S	155;236;196	ENSP00000373783:G155S;ENSP00000427883:G236S;ENSP00000429778:G196S	ENSP00000373783:G155S	G	-	1	0	LOXL2	23273616	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	7.645000	0.83430	2.804000	0.96469	0.655000	0.94253	GGT		0.512	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			T	23217671	C	T	23217671	3	4	7	1	0	0	0	0	1	0	0	0	8900	652	23	1	1909	1	LOXL2	8	23217671	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09		23217671	123146351	30	416											
SLC24A2	25769	genome.wustl.edu	37	9	19528072	19528072	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr9:19528072T>G	ENST00000341998.2	-	8	1605	c.1544A>C	c.(1543-1545)tAc>tCc	p.Y515S	SLC24A2_ENST00000286344.3_Missense_Mutation_p.Y498S	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	515					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.Y515S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACCATCAAGTAAGAGAATAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	9											88	77	81					9																	19528072		2202	4300	6502	19518072	SO:0001583	missense	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1544A>C	9.37:g.19528072T>G	ENSP00000344801:p.Tyr515Ser		19518072	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.889639	0.91889	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.62105	0.05;0.05	6.17	6.17	0.99709	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.83547	0.0099	9	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	498;515	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	S	515;498	ENSP00000344801:Y515S;ENSP00000286344:Y498S	.	Y	-	2	0	SLC24A2	19518072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.371000	0.80710	0.533000	0.62120	TAC		0.428	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		G	19528072	T	G	19528072	3	3	7	1	0	0	0	0	1	0	0	0	14469	1638	57	5	453	5	SLC24A2	9	19528072	Missense_Mutation	SNP	T	TCGA-04-1343-01A-01W-0488-09		19528072	121685359	31	417											
KIAA1529	100499483	genome.wustl.edu	37	9	100085204	100085204	+	Splice_Site	SNP	G	G	C			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr9:100085204G>C	ENST00000357054.1	+	26	2732		c.e26+1		CCDC180_ENST00000395220.1_Splice_Site|CCDC180_ENST00000411667.2_Splice_Site|CCDC180_ENST00000375202.2_Splice_Site|CCDC180_ENST00000460482.2_Splice_Site|CCDC180_ENST00000529487.1_Splice_Site|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(1)									GAATTGTAAGGTGGGCACCCT	0.587																																																1	Unknown(1)	ovary(1)	9											84	62	69					9																	100085204		2203	4300	6503	99125025	SO:0001630	splice_region_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1797+1G>C	9.37:g.100085204G>C			99125025	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Splice_Site	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	G	13.85	2.360340	0.41801	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6313	0.68657	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C9orf174	99125025	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	5.093000	0.64517	2.608000	0.88229	0.561000	0.74099	.		0.587	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	Intron	C	100085204	G	C	100085204	5	2	7	1	0	0	0	0	0	0	1	0	8240	1275	44	3	1856	3	KIAA1529	9	100085204	Splice_Site	SNP	G	TCGA-04-1343-01A-01W-0488-09	80557132	100085204	41128227	32	418											
ITGA8	8516	genome.wustl.edu	37	10	15726087	15726087	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr10:15726087T>C	ENST00000378076.3	-	4	837	c.484A>G	c.(484-486)Aca>Gca	p.T162A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	162					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.T162A(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTTTCTGGTGTCGGTTTAAGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	10											90	91	91					10																	15726087		2203	4300	6503	15766093	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.484A>G	10.37:g.15726087T>C	ENSP00000367316:p.Thr162Ala		15766093	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	2.350	-0.348981	0.05208	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.53857	0.6	6.03	-0.764	0.11027	.	0.450224	0.27782	N	0.017878	T	0.28067	0.0692	N	0.25647	0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.15752	-1.0426	10	0.10902	T	0.67	.	4.2081	0.10498	0.2242:0.2635:0.0:0.5123	.	162;162	F5H818;P53708	.;ITA8_HUMAN	A	162	ENSP00000367316:T162A	ENSP00000367316:T162A	T	-	1	0	ITGA8	15766093	0.004000	0.15560	0.000000	0.03702	0.173000	0.22820	0.848000	0.27710	-0.371000	0.08004	-0.256000	0.11100	ACA		0.413	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		C	15726087	T	C	15726087	3	2	7	1	0	0	0	0	1	0	0	0	7882	1667	58	4	2815	4	ITGA8	10	15726087	Missense_Mutation	SNP	T	TCGA-04-1343-01A-01W-0488-09		15726087	119808660	33	419											
SYT9	143425	genome.wustl.edu	37	11	7439231	7439231	+	Silent	SNP	G	G	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr11:7439231G>T	ENST00000318881.6	+	5	1446	c.1209G>T	c.(1207-1209)ctG>ctT	p.L403L		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	403	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.L403L(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GCAGACGACTGAAGAAGAGGA	0.468																																																1	Substitution - coding silent(1)	ovary(1)	11											167	136	147					11																	7439231		2201	4296	6497	7395807	SO:0001819	synonymous_variant	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1209G>T	11.37:g.7439231G>T			7395807		Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		T	7439231	G	T	7439231	2	4	7	1	0	0	0	0	0	0	0	1	15481	1277	45	3		3	SYT9	11	7439231	Silent	SNP	G	TCGA-04-1343-01A-01W-0488-09		7439231	127567285	34	420											
PRR5L	79899	genome.wustl.edu	37	11	36440825	36440825	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr11:36440825T>A	ENST00000378867.3	+	5	621	c.266T>A	c.(265-267)cTt>cAt	p.L89H	PRR5L_ENST00000530639.1_Missense_Mutation_p.L89H|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.L63H|PRR5L_ENST00000527487.1_Missense_Mutation_p.L89H	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	89					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.L89H(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AAGAGTGAACTTGGATCATTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											209	182	191					11																	36440825		2202	4298	6500	36397401	SO:0001583	missense	79899				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.266T>A	11.37:g.36440825T>A	ENSP00000368144:p.Leu89His		36397401	A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914166	0.72983	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867;ENST00000527487	T;T;T;T	0.76060	1.59;1.63;1.59;-0.99	4.34	4.34	0.51931	.	0.071298	0.64402	D	0.000014	T	0.82245	0.4995	M	0.61703	1.905	0.53005	D	0.99996	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.79784	0.992;0.875;0.993	D	0.83631	0.0145	10	0.87932	D	0	-18.896	10.1247	0.42643	0.0:0.0:0.0:1.0	.	89;8;89	E9PKY1;Q6MZQ0-3;Q6MZQ0	.;.;PRR5L_HUMAN	H	89;63;89;89	ENSP00000435050:L89H;ENSP00000310103:L63H;ENSP00000368144:L89H;ENSP00000435241:L89H	ENSP00000310103:L63H	L	+	2	0	PRR5L	36397401	0.997000	0.39634	0.997000	0.53966	0.997000	0.91878	3.976000	0.56867	1.956000	0.56807	0.454000	0.30748	CTT		0.498	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		A	36440825	T	A	36440825	3	1	7	1	0	0	0	0	1	0	0	0	12605	1609	56	5	282	5	PRR5L	11	36440825	Missense_Mutation	SNP	T	TCGA-04-1343-01A-01W-0488-09	29001594	36440825	98565691	35	421											
INPPL1	3636	genome.wustl.edu	37	11	71941250	71941250	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr11:71941250G>A	ENST00000298229.2	+	9	1229	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	INPPL1_ENST00000538751.1_Missense_Mutation_p.R100Q|INPPL1_ENST00000541756.1_Missense_Mutation_p.R100Q	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	342					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.R342Q(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGGGTGGGCGGCTGGTGCTG	0.642																																																1	Substitution - Missense(1)	ovary(1)	11											48	51	50					11																	71941250		2200	4293	6493	71618898	SO:0001583	missense	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1025G>A	11.37:g.71941250G>A	ENSP00000298229:p.Arg342Gln		71618898	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	18.45	3.626404	0.66901	.	.	ENSG00000165458	ENST00000545256;ENST00000298229;ENST00000541756;ENST00000538751;ENST00000540329	D;D;D	0.96522	-2.93;-4.04;-4.04	5.38	5.38	0.77491	.	0.156902	0.40640	N	0.001047	D	0.88599	0.6480	N	0.14661	0.345	0.36481	D	0.867844	P	0.44627	0.839	B	0.29077	0.098	D	0.90781	0.4679	10	0.49607	T	0.09	.	10.2239	0.43214	0.0901:0.0:0.9099:0.0	.	342	O15357	SHIP2_HUMAN	Q	100;342;100;100;70	ENSP00000298229:R342Q;ENSP00000446360:R100Q;ENSP00000444619:R100Q	ENSP00000298229:R342Q	R	+	2	0	INPPL1	71618898	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.348000	0.59379	2.517000	0.84864	0.655000	0.94253	CGG		0.642	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		A	71941250	G	A	71941250	3	1	7	1	0	0	0	0	1	0	0	0	7761	1116	39	1	1059	1	INPPL1	11	71941250	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09	35500425	71941250	63065266	36	422											
INTS4	92105	genome.wustl.edu	37	11	77672104	77672104	+	Silent	SNP	G	G	C			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr11:77672104G>C	ENST00000534064.1	-	5	586	c.552C>G	c.(550-552)gtC>gtG	p.V184V	INTS4_ENST00000529807.1_Silent_p.V184V	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	184					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.V184V(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CATCTTTTGTGACACTTTTCT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	11											181	171	175					11																	77672104		2200	4292	6492	77349752	SO:0001819	synonymous_variant	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.552C>G	11.37:g.77672104G>C			77349752	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																				0.408	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		C	77672104	G	C	77672104	2	2	7	1	0	0	0	0	0	0	0	1	7780	1277	45	3		3	INTS4	11	77672104	Silent	SNP	G	TCGA-04-1343-01A-01W-0488-09	5730854	77672104	57334412	37	423											
PCF11	51585	genome.wustl.edu	37	11	82868481	82868481	+	5'UTR	SNP	A	A	C			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr11:82868481A>C	ENST00000298281.4	+	0	452					NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.?(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCCGCGGCGCAATGTCAGAGC	0.672																																																1	Unknown(1)	ovary(1)	11											19	24	22					11																	82868481		1830	4050	5880	82546129	SO:0001623	5_prime_UTR_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.-1A>C	11.37:g.82868481A>C			82546129	A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	CCDS44689.1																																																																																				0.672	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		C	82868481	A	C	82868481	1	2	7	0	1	0	0	0	0	0	0	0	11573	145	5	5		5	PCF11	11	82868481	5'UTR	SNP	A	TCGA-04-1343-01A-01W-0488-09	5196377	82868481	52138035	38	424											
GRIA4	2893	genome.wustl.edu	37	11	105776020	105776020	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr11:105776020C>A	ENST00000530497.1	+	8	1151	c.1151C>A	c.(1150-1152)cCt>cAt	p.P384H	GRIA4_ENST00000525187.1_Missense_Mutation_p.P384H|GRIA4_ENST00000428631.2_Missense_Mutation_p.P384H|GRIA4_ENST00000282499.5_Missense_Mutation_p.P384H|GRIA4_ENST00000393125.2_Missense_Mutation_p.P384H|GRIA4_ENST00000393127.2_Missense_Mutation_p.P384H			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	384					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.P384H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AGCACAGGACCTAGAAAGGTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	11											112	103	106					11																	105776020		2202	4299	6501	105281230	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1151C>A	11.37:g.105776020C>A	ENSP00000435775:p.Pro384His		105281230	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.176269	0.78564	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.37839	0.1018	L	0.60845	1.875	0.58432	D	0.999993	B;D;D	0.63880	0.203;0.976;0.993	B;P;P	0.58928	0.115;0.848;0.771	T	0.02736	-1.1117	10	0.59425	D	0.04	.	13.5466	0.61707	0.0:0.9288:0.0:0.0712	.	384;384;384	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	H	384	ENSP00000376833:P384H;ENSP00000282499:P384H;ENSP00000376835:P384H;ENSP00000415551:P384H;ENSP00000435775:P384H;ENSP00000432180:P384H	ENSP00000282499:P384H	P	+	2	0	GRIA4	105281230	0.999000	0.42202	0.963000	0.40424	0.958000	0.62258	4.638000	0.61353	2.881000	0.98747	0.651000	0.88453	CCT		0.393	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			A	105776020	C	A	105776020	3	1	7	1	0	0	0	0	1	0	0	0	6770	681	24	3	1181	3	GRIA4	11	105776020	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	22907539	105776020	29230496	39	425											
OR8G5	219865	genome.wustl.edu	37	11	124135295	124135295	+	Silent	SNP	G	G	A	rs375972074		TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr11:124135295G>A	ENST00000524943.2	+	1	573	c.573G>A	c.(571-573)gcG>gcA	p.A191A	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		TGATTTGTGCGTCAGCTCATA	0.398													g|||	1	0.000199681	8e-04	0	5008	,	,		23144	0		0	False		,,,				2504	0				Ovarian(169;523 1969 8640 31295 51256)											0			11						G		5,3865		0,5,1930	262	253	256		573	-8.4	0	11		256	3,8337		0,3,4167	no	coding-synonymous	OR8G5	NM_001005198.1		0,8,6097	AA,AG,GG		0.036,0.1292,0.0655		191/347	124135295	8,12202	1935	4170	6105	123640505	SO:0001819	synonymous_variant	219865			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.573G>A	11.37:g.124135295G>A			123640505	B2RND3|Q6IEU6	Silent	SNP	ENST00000524943.2	37																																																																																					0.398	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		A	124135295	G	A	124135295	2	1	7	1	0	0	0	0	0	0	0	1	11236	1132	40	1		1	OR8G5	11	124135295	Silent	SNP	G	TCGA-04-1343-01A-01W-0488-09	18359275	124135295	10871221	40	426											
ARID2	196528	genome.wustl.edu	37	12	46244131	46244131	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr12:46244131C>T	ENST00000334344.6	+	15	2397	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.S352F|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S593F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	742					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S742F(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCACAGAGTTCTGTTGTTCAG	0.438			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	ovary(1)	12											87	86	87					12																	46244131		2203	4300	6503	44530398	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2225C>T	12.37:g.46244131C>T	ENSP00000335044:p.Ser742Phe		44530398	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847611	0.51164	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.37058	1.22	5.97	5.97	0.96955	.	0.294458	0.39146	N	0.001459	T	0.44603	0.1301	L	0.29908	0.895	0.80722	D	1	P;P;D	0.57257	0.946;0.873;0.979	P;P;P	0.53809	0.735;0.628;0.642	T	0.34329	-0.9833	10	0.87932	D	0	-9.5181	20.428	0.99075	0.0:1.0:0.0:0.0	.	742;352;742	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	F	742;593;352	ENSP00000335044:S742F	ENSP00000335044:S742F	S	+	2	0	ARID2	44530398	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.036000	0.70948	2.837000	0.97791	0.655000	0.94253	TCT		0.438	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		T	46244131	C	T	46244131	3	4	7	1	0	0	0	0	1	0	0	0	915	913	32	2	2283	2	ARID2	12	46244131	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09		46244131	87607764	41	427											
CLIP1	6249	genome.wustl.edu	37	12	122821266	122821266	+	Silent	SNP	C	C	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr12:122821266C>A	ENST00000540338.1	-	11	2522	c.2481G>T	c.(2479-2481)ggG>ggT	p.G827G	CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000537178.1_Silent_p.G781G|CLIP1_ENST00000302528.7_Silent_p.G816G|CLIP1_ENST00000358808.2_Silent_p.G816G|CLIP1_ENST00000361654.4_Silent_p.G705G			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	827					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.G816G(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTAGCTCTCTCCCCTGGAGCT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	12											91	90	90					12																	122821266		2203	4300	6503	121387219	SO:0001819	synonymous_variant	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2481G>T	12.37:g.122821266C>A			121387219	A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	CCDS58285.1																																																																																				0.373	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		A	122821266	C	A	122821266	2	1	7	1	0	0	0	0	0	0	0	1	3532	842	30	3		3	CLIP1	12	122821266	Silent	SNP	C	TCGA-04-1343-01A-01W-0488-09	76577135	122821266	11030629	42	428											
DMXL2	23312	genome.wustl.edu	37	15	51827951	51827951	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr15:51827951A>G	ENST00000251076.5	-	13	2632	c.2345T>C	c.(2344-2346)tTt>tCt	p.F782S	DMXL2_ENST00000543779.2_Missense_Mutation_p.F782S|DMXL2_ENST00000449909.3_Missense_Mutation_p.F782S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	782						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.F782S(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGAAGCAACAAAGCAAGCACT	0.383																																																1	Substitution - Missense(1)	ovary(1)	15											91	89	90					15																	51827951		2195	4292	6487	49615243	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2345T>C	15.37:g.51827951A>G	ENSP00000251076:p.Phe782Ser		49615243	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966141	0.74131	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.51574	0.7;0.7;0.7	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.86420	2.815	0.34194	D	0.672348	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.986;0.991	D	0.84479	0.0604	10	0.87932	D	0	.	15.2263	0.73354	1.0:0.0:0.0:0.0	.	782;782;782	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	S	782	ENSP00000251076:F782S;ENSP00000441858:F782S;ENSP00000400855:F782S	ENSP00000251076:F782S	F	-	2	0	DMXL2	49615243	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	1.993000	0.58246	0.533000	0.62120	TTT		0.383	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51827951	A	G	51827951	3	3	7	1	0	0	0	0	1	0	0	0	4595	14	1	4	6892	4	DMXL2	15	51827951	Missense_Mutation	SNP	A	TCGA-04-1343-01A-01W-0488-09		51827951	50703441	43	429											
ADAMTSL3	57188	genome.wustl.edu	37	15	84651252	84651252	+	Missense_Mutation	SNP	C	C	T	rs148167427		TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr15:84651252C>T	ENST00000286744.5	+	21	3096	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R958W	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	958	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R958W(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAACTCCAAACGGCTTGGCAT	0.547																																																1	Substitution - Missense(1)	ovary(1)	15						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	96	96	96		2872	0.4	0	15	dbSNP_134	96	0,8600		0,0,4300	no	missense	ADAMTSL3	NM_207517.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	958/1692	84651252	1,13005	2203	4300	6503	82442256	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2872C>T	15.37:g.84651252C>T	ENSP00000286744:p.Arg958Trp		82442256	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320379	0.60634	2.27E-4	0.0	ENSG00000156218	ENST00000286744	T	0.81163	-1.46	5.05	0.358	0.16084	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228624	0.22949	N	0.053681	D	0.89210	0.6650	M	0.93808	3.46	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.61397	0.888;0.88	T	0.81553	-0.0880	10	0.87932	D	0	.	9.5465	0.39284	0.6606:0.2385:0.1009:0.0	.	958;958	P82987-2;P82987	.;ATL3_HUMAN	W	958	ENSP00000286744:R958W	ENSP00000286744:R958W	R	+	1	2	ADAMTSL3	82442256	0.840000	0.29493	0.002000	0.10522	0.967000	0.64934	2.140000	0.42159	0.144000	0.18951	-0.309000	0.09137	CGG		0.547	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		T	84651252	C	T	84651252	3	4	7	1	0	0	0	0	1	0	0	0	276	527	19	1	2950	1	ADAMTSL3	15	84651252	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	32823301	84651252	17880140	44	430											
RUNDC2A	92017	genome.wustl.edu	37	16	12136876	12136876	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr16:12136876A>G	ENST00000566228.1	+	5	439	c.370A>G	c.(370-372)Aac>Gac	p.N124D	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	124	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.N124D(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGTGCCCTCAACGAACACTC	0.657																																																1	Substitution - Missense(1)	ovary(1)	16											39	32	34					16																	12136876		2197	4300	6497	12044377	SO:0001583	missense	84127			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.370A>G	16.37:g.12136876A>G	ENSP00000456480:p.Asn124Asp		12044377	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	A	34	5.389644	0.95988	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.91	4.91	0.64330	.	0.059561	0.64402	D	0.000007	T	0.76990	0.4065	M	0.83118	2.625	0.80722	D	1	.	.	.	.	.	.	T	0.80770	-0.1234	7	0.66056	D	0.02	-14.8418	13.5118	0.61517	1.0:0.0:0.0:0.0	.	.	.	.	D	124	.	ENSP00000268271:N124D	N	+	1	0	RUNDC2A	12044377	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.855000	0.92236	2.066000	0.61787	0.379000	0.24179	AAC		0.657	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			G	12136876	A	G	12136876	3	3	7	1	0	0	0	0	1	0	0	0	13746	130	5	4	388	4	RUNDC2A	16	12136876	Missense_Mutation	SNP	A	TCGA-04-1343-01A-01W-0488-09		12136876	78217877	45	431											
USP31	57478	genome.wustl.edu	37	16	23080132	23080132	+	Silent	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr16:23080132C>T	ENST00000219689.7	-	16	3293	c.3294G>A	c.(3292-3294)gaG>gaA	p.E1098E	USP31_ENST00000567975.1_Silent_p.E391E	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.E1098E(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCGGGGATGACTCCTTTTTGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	16											80	88	85					16																	23080132		2197	4300	6497	22987633	SO:0001819	synonymous_variant	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3294G>A	16.37:g.23080132C>T			22987633	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	CCDS10607.1																																																																																				0.567	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		T	23080132	C	T	23080132	2	4	7	1	0	0	0	0	0	0	0	1	17062	564	20	2		2	USP31	16	23080132	Silent	SNP	C	TCGA-04-1343-01A-01W-0488-09	10943256	23080132	67274621	46	432											
TP53	7157	genome.wustl.edu	37	17	7578220	7578224	+	Frame_Shift_Del	DEL	TTTCT	TTTCT	-			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	TTTCT	TTTCT	TTTCT	-	TTTCT	TTTCT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr17:7578220_7578224delTTTCT	ENST00000269305.4	-	6	814_818	c.625_629delAGAAA	c.(625-630)agaaacfs	p.RN209fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.RN209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RN209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.RN209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RN209fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.RN209fs	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	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R209fs*6(38)|p.R209*(18)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.N210fs*37(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.N210S(2)|p.R77*(2)|p.R116fs*6(2)|p.R116*(2)|p.N210D(1)|p.R77K(1)|p.R209I(1)|p.?fs(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209R(1)|p.N210H(1)|p.R209S(1)|p.N210T(1)|p.D208fs*38(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*7(1)|p.R209fs*5(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)	TCGAAAAGTGTTTCTGTCATCCAAA	0.541		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"	118	Deletion - Frameshift(55)|Substitution - Nonsense(22)|Substitution - Missense(19)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(3)|Substitution - coding silent(1)	lung(20)|breast(13)|biliary_tract(11)|oesophagus(11)|upper_aerodigestive_tract(8)|large_intestine(7)|central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|urinary_tract(5)|prostate(5)|soft_tissue(4)|ovary(4)|pancreas(4)|bone(4)|stomach(3)|salivary_gland(2)|liver(2)|skin(2)|cervix(1)|thyroid(1)	17	GRCh37	CD921041|CD962734|CM004573|CM971504	TP53	D|M																																				7518949	SO:0001589	frameshift_variant	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.625_629delAGAAA	17.37:g.7578220_7578224delTTTCT	ENSP00000269305:p.Arg209fs		7518945	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.541	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578224	TTTCT	-	7578220	7	5	7	1	0	1	0	1	0	0	0	0	16381	1725	60	0	665	0	TP53	17	7578220	Frame_Shift_Del	DEL	TTTCT	TCGA-04-1343-01A-01W-0488-09		7578220	73616990	47	433											
DNAH2	146754	genome.wustl.edu	37	17	7695633	7695633	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr17:7695633C>G	ENST00000572933.1	+	46	8577	c.7117C>G	c.(7117-7119)Ctc>Gtc	p.L2373V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L2373V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2373					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L2373V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAGGACAAGCTCCCTAAGAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											94	88	90					17																	7695633		2203	4300	6503	7636358	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7117C>G	17.37:g.7695633C>G	ENSP00000458355:p.Leu2373Val		7636358	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819261	0.32145	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.19669	2.13	4.98	3.94	0.45596	.	0.086055	0.44902	D	0.000403	T	0.14098	0.0341	L	0.41124	1.26	0.80722	D	1	B	0.32324	0.364	B	0.33846	0.171	T	0.02821	-1.1106	10	0.07175	T	0.84	.	8.3993	0.32576	0.0:0.8194:0.0:0.1806	.	2373	Q9P225	DYH2_HUMAN	V	2373	ENSP00000373825:L2373V	ENSP00000353818:L2373V	L	+	1	0	DNAH2	7636358	1.000000	0.71417	0.998000	0.56505	0.589000	0.36550	2.689000	0.46993	2.581000	0.87130	0.643000	0.83706	CTC		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		G	7695633	C	G	7695633	3	3	7	1	0	0	0	0	1	0	0	0	4602	797	28	3	7295	3	DNAH2	17	7695633	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	117413	7695633	73499577	48	434											
MYH1	4619	genome.wustl.edu	37	17	10400653	10400653	+	Silent	SNP	T	T	C			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr17:10400653T>C	ENST00000226207.5	-	32	4576	c.4482A>G	c.(4480-4482)gaA>gaG	p.E1494E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1494					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1494E(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGTCTAAAGATTCCTCATAAG	0.338																																																1	Substitution - coding silent(1)	ovary(1)	17											82	82	82					17																	10400653		2203	4300	6503	10341378	SO:0001819	synonymous_variant	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4482A>G	17.37:g.10400653T>C			10341378	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																				0.338	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		C	10400653	T	C	10400653	2	2	7	1	0	0	0	0	0	0	0	1	10029	1490	52	4		4	MYH1	17	10400653	Silent	SNP	T	TCGA-04-1343-01A-01W-0488-09	2705020	10400653	70794557	49	435											
KIAA0802	23255	genome.wustl.edu	37	18	8826019	8826019	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr18:8826019G>T	ENST00000306329.11	+	13	5468	c.5468G>T	c.(5467-5469)tGc>tTc	p.C1823F	SOGA2_ENST00000359865.3_Missense_Mutation_p.C1504F|SOGA2_ENST00000518815.1_Missense_Mutation_p.C829F|SOGA2_ENST00000306285.7_Missense_Mutation_p.C829F|SOGA2_ENST00000400050.3_Missense_Mutation_p.C1463F|SOGA2_ENST00000517570.1_Missense_Mutation_p.C1463F														p.C1504F(1)									TCAGAGATGTGCAGGGAGGAA	0.632																																																1	Substitution - Missense(1)	ovary(1)	18											32	34	33					18																	8826019		2203	4297	6500	8816019	SO:0001583	missense	23255																														ENST00000306329.11:c.5468G>T	18.37:g.8826019G>T	ENSP00000305027:p.Cys1823Phe		8816019		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	G	0.322	-0.961096	0.02249	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.29917	2.57;2.57;2.57;1.55	5.22	-0.878	0.10617	.	1.144920	0.06461	N	0.729475	T	0.14657	0.0354	N	0.22421	0.69	0.23386	N	0.99779	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.25710	-1.0124	10	0.09843	T	0.71	-3.3497	0.4349	0.00477	0.2328:0.2392:0.2766:0.2514	.	1814;1504	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	F	1525;1463;1504;1463;829	ENSP00000429556:C1463F;ENSP00000352927:C1504F;ENSP00000382924:C1463F;ENSP00000303670:C829F	ENSP00000303670:C829F	C	+	2	0	CCDC165	8816019	0.996000	0.38824	0.102000	0.21198	0.838000	0.47535	1.997000	0.40786	-0.084000	0.12595	0.462000	0.41574	TGC		0.632	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8826019	G	T	8826019	3	4	7	1	0	0	0	0	1	0	0	0	8194	1319	46	3	4561	3	KIAA0802	18	8826019	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09		8826019	69251229	50	436			1	1		2	2	13	G		2.325799e-05
KIAA0802	23255	genome.wustl.edu	37	18	8826031	8826031	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr18:8826031G>T	ENST00000306329.11	+	13	5480	c.5480G>T	c.(5479-5481)gGg>gTg	p.G1827V	SOGA2_ENST00000359865.3_Missense_Mutation_p.G1508V|SOGA2_ENST00000518815.1_Missense_Mutation_p.G833V|SOGA2_ENST00000306285.7_Missense_Mutation_p.G833V|SOGA2_ENST00000400050.3_Missense_Mutation_p.G1467V|SOGA2_ENST00000517570.1_Missense_Mutation_p.G1467V														p.G1508V(1)									AGGGAGGAAGGGGGAGAGGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	18											35	37	36					18																	8826031		2202	4298	6500	8816031	SO:0001583	missense	23255																														ENST00000306329.11:c.5480G>T	18.37:g.8826031G>T	ENSP00000305027:p.Gly1827Val		8816031		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	G	11.77	1.737162	0.30774	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T;T	0.32023	2.47;2.5;2.49;2.5;1.47	5.71	5.71	0.89125	.	0.000000	0.52532	D	0.000062	T	0.51770	0.1694	M	0.72479	2.2	0.54753	D	0.999985	D;D	0.71674	0.998;0.993	D;P	0.64776	0.929;0.854	T	0.51301	-0.8723	10	0.56958	D	0.05	-50.7124	13.0981	0.59204	0.0733:0.0:0.9267:0.0	.	1818;1508	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	V	1529;1467;1508;1467;833	ENSP00000305027:G1529V;ENSP00000429556:G1467V;ENSP00000352927:G1508V;ENSP00000382924:G1467V;ENSP00000303670:G833V	ENSP00000303670:G833V	G	+	2	0	CCDC165	8816031	0.998000	0.40836	0.768000	0.31515	0.869000	0.49853	1.908000	0.39907	2.700000	0.92200	0.462000	0.41574	GGG		0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8826031	G	T	8826031	3	4	7	1	0	0	0	0	1	0	0	0	8194	1232	43	3	4573	3	KIAA0802	18	8826031	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09	12	8826031	69251217	51	437			1	1		2	2	13	G		2.325799e-05
CELF4	56853	genome.wustl.edu	37	18	35145519	35145519	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr18:35145519C>G	ENST00000591282.1	-	1	85	c.86G>C	c.(85-87)aGt>aCt	p.S29T	CELF4_ENST00000334919.5_Missense_Mutation_p.S29T|CELF4_ENST00000591287.1_Missense_Mutation_p.S29T|CELF4_ENST00000361795.5_Missense_Mutation_p.S29T|CELF4_ENST00000603232.1_Missense_Mutation_p.S29T|CELF4_ENST00000412753.1_Missense_Mutation_p.S29T|CELF4_ENST00000601019.1_Missense_Mutation_p.S29T|CELF4_ENST00000588597.1_Missense_Mutation_p.S29T|CELF4_ENST00000420428.2_Missense_Mutation_p.S29T			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	29	Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.S29T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GTGCCCGGCACTGCCCGGGCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	18											57	54	55					18																	35145519		2203	4300	6503	33399517	SO:0001583	missense	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.86G>C	18.37:g.35145519C>G	ENSP00000464794:p.Ser29Thr		33399517	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	4.119	0.020260	0.08006	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T;T	0.73789	-0.75;-0.72;-0.73;-0.78	5.13	4.2	0.49525	.	0.136527	0.44483	D	0.000460	T	0.43897	0.1268	N	0.02142	-0.665	0.28426	N	0.91748	B;B;B;B;B	0.12013	0.0;0.0;0.005;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.001;0.0	T	0.18840	-1.0324	10	0.07175	T	0.84	-9.8614	12.3004	0.54870	0.0:0.7179:0.2821:0.0	.	29;29;29;29;29	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	T	29	ENSP00000355089:S29T;ENSP00000406823:S29T;ENSP00000410584:S29T;ENSP00000335631:S29T	ENSP00000335631:S29T	S	-	2	0	CELF4	33399517	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.789000	0.38724	2.548000	0.85928	0.650000	0.86243	AGT		0.557	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		G	35145519	C	G	35145519	3	3	7	1	0	0	0	0	1	0	0	0	3218	565	20	3	1422	3	CELF4	18	35145519	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	26319488	35145519	42931729	52	438											
SUPT5H	6829	genome.wustl.edu	37	19	39959442	39959442	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr19:39959442G>C	ENST00000599117.1	+	15	1451	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	SUPT5H_ENST00000432763.2_Missense_Mutation_p.E362Q|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E358Q|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E362Q|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E358Q			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	362	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.E362Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTCATCTTTGAGGGGAACCG	0.527																																																1	Substitution - Missense(1)	ovary(1)	19											90	85	87					19																	39959442		2203	4300	6503	44651282	SO:0001583	missense	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1084G>C	19.37:g.39959442G>C	ENSP00000470252:p.Glu362Gln		44651282	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559480	0.86335	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.61387	1.9	0.80722	D	1	D;D	0.76494	0.999;0.972	D;P	0.78314	0.991;0.688	T	0.76353	-0.2990	8	.	.	.	-26.9357	15.5481	0.76123	0.0:0.1389:0.8611:0.0	.	358;362	O00267-2;O00267	.;SPT5H_HUMAN	Q	362;358;340;362	.	.	E	+	1	0	SUPT5H	44651282	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.592000	0.98245	1.389000	0.46526	0.650000	0.86243	GAG		0.527	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		C	39959442	G	C	39959442	3	2	7	1	0	0	0	0	1	0	0	0	15399	1291	45	3	1134	3	SUPT5H	19	39959442	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09		39959442	19169541	53	439											
CCDC61	729440	genome.wustl.edu	37	19	46509877	46509877	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr19:46509877C>A	ENST00000595358.1	+	4	341	c.292C>A	c.(292-294)Cgc>Agc	p.R98S	CCDC61_ENST00000536603.1_Missense_Mutation_p.R98S|CCDC61_ENST00000594087.1_Missense_Mutation_p.R98S|CCDC61_ENST00000263284.2_Missense_Mutation_p.R155S	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	98						centrosome (GO:0005813)		p.R155S(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CCTGCGGAACCGCAAGATGGG	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											24	29	27					19																	46509877		1947	4128	6075	51201717	SO:0001583	missense	729440				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.292C>A	19.37:g.46509877C>A	ENSP00000471454:p.Arg98Ser		51201717	C8CAP4|Q9HDB6	Missense_Mutation	SNP	ENST00000595358.1	37	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462527	0.63513	.	.	ENSG00000104983	ENST00000263284;ENST00000536603	T;T	0.41065	1.01;1.01	3.96	3.96	0.45880	.	0.287816	0.33180	N	0.005185	T	0.40498	0.1119	L	0.41632	1.29	0.46222	D	0.998937	P	0.38788	0.647	P	0.45881	0.496	T	0.37314	-0.9711	10	0.72032	D	0.01	-10.5302	9.2452	0.37520	0.2156:0.7844:0.0:0.0	.	98	Q9Y6R9	CCD61_HUMAN	S	155;98	ENSP00000263284:R155S;ENSP00000444279:R98S	ENSP00000263284:R155S	R	+	1	0	CCDC61	51201717	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.052000	0.49893	2.250000	0.74265	0.555000	0.69702	CGC		0.632	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		A	46509877	C	A	46509877	3	1	7	1	0	0	0	0	1	0	0	0	2832	652	23	3	481	3	CCDC61	19	46509877	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	6550435	46509877	12619106	54	440											
RRBP1	6238	genome.wustl.edu	37	20	17602521	17602521	+	Silent	SNP	T	T	C			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr20:17602521T>C	ENST00000377813.1	-	14	3522	c.3219A>G	c.(3217-3219)gaA>gaG	p.E1073E	RRBP1_ENST00000360807.4_Silent_p.E640E|RRBP1_ENST00000455029.2_Silent_p.E414E|RRBP1_ENST00000377807.2_Silent_p.E640E|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000246043.4_Silent_p.E1073E			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1073					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.E640E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGACAGAGAGTTCTGGGAGCA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	20											72	83	79					20																	17602521		2203	4300	6503	17550521	SO:0001819	synonymous_variant	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3219A>G	20.37:g.17602521T>C			17550521	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37																																																																																					0.607	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		C	17602521	T	C	17602521	2	2	7	1	0	0	0	0	0	0	0	1	13681	1722	60	4		4	RRBP1	20	17602521	Silent	SNP	T	TCGA-04-1343-01A-01W-0488-09		17602521	45422999	55	441											
SEZ6L	23544	genome.wustl.edu	37	22	26736599	26736599	+	Splice_Site	SNP	G	G	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr22:26736599G>A	ENST00000248933.6	+	10	2307		c.e10+1		SEZ6L_ENST00000404234.3_Splice_Site|SEZ6L_ENST00000403121.1_Splice_Site|SEZ6L_ENST00000402979.1_Splice_Site|SEZ6L_ENST00000343706.4_Splice_Site|SEZ6L_ENST00000360929.3_Splice_Site|SEZ6L_ENST00000529632.2_Splice_Site			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AACTACATAGGTAGGTGTCTC	0.423																																																1	Unknown(1)	ovary(1)	22											76	68	71					22																	26736599		2203	4300	6503	25066599	SO:0001630	splice_region_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2212+1G>A	22.37:g.26736599G>A			25066599	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Splice_Site	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239138	0.79800	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4833	0.87680	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEZ6L	25066599	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	9.042000	0.93793	2.604000	0.88044	0.313000	0.20887	.		0.423	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		Intron	A	26736599	G	A	26736599	5	1	7	1	0	0	0	0	0	0	1	0	14146	1275	44	2	2251	2	SEZ6L	22	26736599	Splice_Site	SNP	G	TCGA-04-1343-01A-01W-0488-09		26736599	24567967	56	442											
PDXP	57026	genome.wustl.edu	37	22	38061650	38061650	+	Silent	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chr22:38061650C>T	ENST00000215904.6	+	2	719	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SH3BP1_ENST00000599616.1_Silent_p.C530C|PDXP_ENST00000403251.1_Silent_p.C4C	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	221					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)	p.C221C(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					TGTTCGAGTGCATCACGGAGA	0.652																																																1	Substitution - coding silent(1)	ovary(1)	22											105	90	95					22																	38061650		2203	4300	6503	36391596	SO:0001819	synonymous_variant	57026			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.663C>T	22.37:g.38061650C>T			36391596	Q9UGY2	Silent	SNP	ENST00000215904.6	37	CCDS13953.1																																																																																				0.652	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315		T	38061650	C	T	38061650	2	4	7	1	0	0	0	0	0	0	0	1	11698	718	25	2		2	PDXP	22	38061650	Silent	SNP	C	TCGA-04-1343-01A-01W-0488-09	11325051	38061650	13242916	57	443											
TAF1	6872	genome.wustl.edu	37	X	70602947	70602947	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chrX:70602947G>A	ENST00000373790.4	+	12	1928	c.1877G>A	c.(1876-1878)gGt>gAt	p.G626D	TAF1_ENST00000276072.3_Missense_Mutation_p.G647D|TAF1_ENST00000449580.1_Missense_Mutation_p.G626D|TAF1_ENST00000423759.1_Missense_Mutation_p.G647D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	626	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G626D(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TACTCATTTGGTGCACTTTCT	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											55	51	52					X																	70602947		2203	4300	6503	70519672	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1877G>A	X.37:g.70602947G>A	ENSP00000362895:p.Gly626Asp		70519672	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	24.4	4.529493	0.85706	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09911	2.93;3.0;2.98;2.93	5.82	5.82	0.92795	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.049457	0.85682	D	0.000000	T	0.38772	0.1053	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.20174	-1.0283	10	0.72032	D	0.01	.	19.1009	0.93274	0.0:0.0:1.0:0.0	.	626;647	P21675;P21675-2	TAF1_HUMAN;.	D	626;626;647;647	ENSP00000362895:G626D;ENSP00000389000:G626D;ENSP00000406549:G647D;ENSP00000276072:G647D	ENSP00000276072:G647D	G	+	2	0	TAF1	70519672	1.000000	0.71417	0.993000	0.49108	0.878000	0.50629	9.472000	0.97709	2.461000	0.83175	0.536000	0.68110	GGT		0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		A	70602947	G	A	70602947	3	1	7	1	0	0	0	0	1	0	0	0	15513	1261	44	2	1986	2	TAF1	23	70602947	Missense_Mutation	SNP	G	TCGA-04-1343-01A-01W-0488-09		70602947	84667613	58	444											
IL13RA2	3598	genome.wustl.edu	37	X	114245331	114245331	+	Silent	SNP	A	A	G			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chrX:114245331A>G	ENST00000371936.1	-	7	831	c.582T>C	c.(580-582)aaT>aaC	p.N194N	IL13RA2_ENST00000243213.1_Silent_p.N194N			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	194	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.N194N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGCATCCTATATTTTGTCCAT	0.353																																																1	Substitution - coding silent(1)	ovary(1)	X											106	96	100					X																	114245331		2203	4300	6503	114151587	SO:0001819	synonymous_variant	3598			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"Interleukins and interleukin receptors", "CD molecules"	5975	protein-coding gene	gene with protein product	"cancer/testis antigen 19"	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.582T>C	X.37:g.114245331A>G			114151587	A8K7E2|O00667	Silent	SNP	ENST00000371936.1	37	CCDS14565.1																																																																																				0.353	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		G	114245331	A	G	114245331	2	3	7	1	0	0	0	0	0	0	0	1	7630	446	16	4		4	IL13RA2	23	114245331	Silent	SNP	A	TCGA-04-1343-01A-01W-0488-09	43642384	114245331	41025229	59	445											
KIAA1210	57481	genome.wustl.edu	37	X	118223499	118223499	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1343-01A-01W-0488-09	TCGA-04-1343-10A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fbbc3d80-aff2-463e-8eb3-c4361ad7cb98	9018d52d-26a4-4572-aac7-f4e4b4fc5593	g.chrX:118223499C>T	ENST00000402510.2	-	11	1693	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	565								p.G389D(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATCGCCCAGGCCATACCCTTC	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											186	181	183					X																	118223499		2025	4166	6191	118107527	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1694G>A	X.37:g.118223499C>T	ENSP00000384670:p.Gly565Asp		118107527	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	8.971	0.973030	0.18736	.	.	ENSG00000250423	ENST00000402510	T	0.10573	2.86	4.83	0.441	0.16577	.	.	.	.	.	T	0.04861	0.0131	N	0.14661	0.345	0.09310	N	1	B	0.19331	0.035	B	0.18263	0.021	T	0.46289	-0.9202	9	0.14656	T	0.56	.	3.6147	0.08073	0.1714:0.4627:0.0:0.3659	.	565	Q9ULL0	K1210_HUMAN	D	565	ENSP00000384670:G565D	ENSP00000384670:G565D	G	-	2	0	RP13-347D8.6	118107527	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.285000	0.01153	-0.182000	0.10602	0.523000	0.50628	GGC		0.473	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		T	118223499	C	T	118223499	3	4	7	1	0	0	0	0	1	0	0	0	8214	739	26	2	3451	2	KIAA1210	23	118223499	Missense_Mutation	SNP	C	TCGA-04-1343-01A-01W-0488-09	3978168	118223499	37047061	60	446											
TAF1B	9014	genome.wustl.edu	37	2	10073948	10073948	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr2:10073948T>A	ENST00000263663.5	+	15	1790	c.1602T>A	c.(1600-1602)aaT>aaA	p.N534K	TAF1B_ENST00000396242.3_Missense_Mutation_p.N279K|RP11-95D17.1_ENST00000602458.1_lincRNA	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	534					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.N534K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGAATCAAATTATTCTCTGA	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											69	75	73					2																	10073948		2201	4295	6496	9991399	SO:0001583	missense	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1602T>A	2.37:g.10073948T>A	ENSP00000263663:p.Asn534Lys		9991399	B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643457	0.47258	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.41758	0.99;0.99	5.64	1.98	0.26296	.	0.189479	0.53938	D	0.000047	T	0.44726	0.1307	M	0.67953	2.075	0.35159	D	0.770433	D	0.56521	0.976	P	0.49799	0.622	T	0.53781	-0.8390	9	.	.	.	-25.5956	7.2147	0.25953	0.0:0.2588:0.0:0.7412	.	534	Q53T94	TAF1B_HUMAN	K	534;279	ENSP00000263663:N534K;ENSP00000379542:N279K	.	N	+	3	2	TAF1B	9991399	0.999000	0.42202	0.977000	0.42913	0.589000	0.36550	0.205000	0.17356	0.103000	0.17682	-0.609000	0.04063	AAT		0.348	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		A	10073948	T	A	10073948	3	1	8	1	0	0	0	0	1	0	0	0	15520	1490	52	5	1660	5	TAF1B	2	10073948	Missense_Mutation	SNP	T	TCGA-04-1346-01A-01W-0488-09		10073948	233125425	1	447											
SNRNP200	23020	genome.wustl.edu	37	2	96952745	96952745	+	Splice_Site	SNP	T	T	C			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr2:96952745T>C	ENST00000323853.5	-	27	3715	c.3638A>G	c.(3637-3639)aAg>aGg	p.K1213R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1213	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.K1213R(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AAGCCTCACCTTTTCATCCCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											130	113	119					2																	96952745		2203	4300	6503	96316472	SO:0001630	splice_region_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3639+1A>G	2.37:g.96952745T>C			96316472	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854182	0.32791	.	.	ENSG00000144028	ENST00000323853	T	0.60424	0.19	5.04	5.04	0.67666	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.28649	0.875	0.80722	D	1	B	0.14805	0.011	B	0.24006	0.05	T	0.43376	-0.9395	10	0.45353	T	0.12	-21.3585	13.8909	0.63738	0.0:0.0:0.0:1.0	.	1213	O75643	U520_HUMAN	R	1213	ENSP00000317123:K1213R	ENSP00000317123:K1213R	K	-	2	0	SNRNP200	96316472	1.000000	0.71417	0.361000	0.25849	0.225000	0.24961	7.863000	0.87023	2.131000	0.65755	0.374000	0.22700	AAG		0.562	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	Missense_Mutation	C	96952745	T	C	96952745	5	2	8	1	0	0	0	0	0	0	1	0	14855	1623	56	4	2848	4	SNRNP200	2	96952745	Splice_Site	SNP	T	TCGA-04-1346-01A-01W-0488-09	86878797	96952745	146246628	2	448											
GLI2	2736	genome.wustl.edu	37	2	121684976	121684976	+	Missense_Mutation	SNP	C	C	T	rs147224778	byFrequency	TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr2:121684976C>T	ENST00000452319.1	+	3	248	c.188C>T	c.(187-189)cCg>cTg	p.P63L	GLI2_ENST00000361492.4_Missense_Mutation_p.P63L|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2									p.P63L(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCGCCCCTACCGATTGACATG	0.557													C|||	2	0.000399361	0.0015	0	5008	,	,		18735	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2						C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	272	224	240		188	5.1	0.8	2	dbSNP_134	240	0,8600		0,0,4300	no	missense	GLI2	NM_005270.4	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	63/1587	121684976	2,13004	2203	4300	6503	121401446	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.188C>T	2.37:g.121684976C>T	ENSP00000390436:p.Pro63Leu		121401446		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587660	0.66105	4.54E-4	0.0	ENSG00000074047	ENST00000418323;ENST00000452319;ENST00000361492;ENST00000440937;ENST00000360874	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.87838	0.6278	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.998;1.0	D	0.89180	0.3543	10	0.87932	D	0	.	18.5372	0.91014	0.0:1.0:0.0:0.0	.	63;63;63;63	B4DT63;P10070;Q0VGA0;F5H4D9	.;GLI2_HUMAN;.;.	L	63;63;63;63;55	ENSP00000398992:P63L;ENSP00000390436:P63L;ENSP00000354586:P63L;ENSP00000441454:P55L	ENSP00000441454:P55L	P	+	2	0	GLI2	121401446	1.000000	0.71417	0.824000	0.32777	0.095000	0.18619	7.474000	0.81024	2.382000	0.81193	0.467000	0.42956	CCG		0.557	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121684976	C	T	121684976	3	4	8	1	0	0	0	0	1	0	0	0	6438	652	23	1	194	1	GLI2	2	121684976	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09	24732231	121684976	121514397	3	449											
ITIH3	3699	genome.wustl.edu	37	3	52833830	52833830	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr3:52833830T>C	ENST00000449956.2	+	9	974	c.968T>C	c.(967-969)aTc>aCc	p.I323T	ITIH3_ENST00000465243.2_3'UTR|ITIH3_ENST00000416872.2_Missense_Mutation_p.I323T	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	323	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I323T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGAATTTCATCCTGTTCAGT	0.522																																																1	Substitution - Missense(1)	ovary(1)	3											73	77	75					3																	52833830		1925	4136	6061	52808870	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.968T>C	3.37:g.52833830T>C	ENSP00000415769:p.Ile323Thr		52808870	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324620	0.81580	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	D;D	0.85171	-1.95;-1.95	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.195954	0.53938	D	0.000046	D	0.91593	0.7344	M	0.89030	3	0.42964	D	0.994418	D;P	0.64830	0.994;0.872	P;P	0.57620	0.824;0.673	D	0.93102	0.6509	10	0.72032	D	0.01	-28.8375	12.928	0.58270	0.0:0.0:0.0:1.0	.	323;323	E7ET33;Q06033	.;ITIH3_HUMAN	T	323;311;318;323;323	ENSP00000413922:I323T;ENSP00000415769:I323T	ENSP00000273291:I318T	I	+	2	0	ITIH3	52808870	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.857000	0.75455	2.240000	0.73641	0.533000	0.62120	ATC		0.522	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		C	52833830	T	C	52833830	3	2	8	1	0	0	0	0	1	0	0	0	7905	1435	50	4	1002	4	ITIH3	3	52833830	Missense_Mutation	SNP	T	TCGA-04-1346-01A-01W-0488-09		52833830	145188600	4	450											
MED12L	116931	genome.wustl.edu	37	3	151078293	151078293	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr3:151078293C>T	ENST00000474524.1	+	19	2790	c.2752C>T	c.(2752-2754)Ccc>Tcc	p.P918S	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.P778S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	918						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P918S(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTCGTAAACCCCTCAGAATG	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											281	268	272					3																	151078293		2203	4300	6503	152560983	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2752C>T	3.37:g.151078293C>T	ENSP00000417235:p.Pro918Ser		152560983	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087844	0.94100	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.77229	-1.08;-1.08	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.86648	0.5983	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.991	D;P;P	0.76071	0.987;0.844;0.831	D	0.84428	0.0575	10	0.35671	T	0.21	-23.5783	19.2898	0.94093	0.0:1.0:0.0:0.0	.	778;918;918	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	S	918;778	ENSP00000417235:P918S;ENSP00000273432:P778S	ENSP00000273432:P778S	P	+	1	0	MED12L	152560983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.166000	0.77553	2.723000	0.93209	0.655000	0.94253	CCC		0.398	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		T	151078293	C	T	151078293	3	4	8	1	0	0	0	0	1	0	0	0	9429	623	22	2	2826	2	MED12L	3	151078293	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09	98244463	151078293	46944137	5	451											
PPBP	5473	genome.wustl.edu	37	4	74853703	74853703	+	Missense_Mutation	SNP	G	G	T	rs201450284		TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr4:74853703G>T	ENST00000296028.3	-	1	211	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	40					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)	p.Q40K(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CTCTTAGTTTGTCCTTTGGTG	0.522																																																1	Substitution - Missense(1)	ovary(1)	4											138	127	131					4																	74853703		2203	4300	6503	75072567	SO:0001583	missense	5473			M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"Endogenous ligands"	9240	protein-coding gene	gene with protein product	"platelet basic protein", "beta-thromboglobulin", "connective tissue-activating peptide III", "neutrophil-activating peptide-2"	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.118C>A	4.37:g.74853703G>T	ENSP00000296028:p.Gln40Lys		75072567	B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	G	5.009	0.187309	0.09547	.	.	ENSG00000163736	ENST00000296028	T	0.39997	1.05	2.56	-3.17	0.05202	Chemokine interleukin-8-like domain (1);	.	.	.	.	T	0.16769	0.0403	N	0.19112	0.55	0.09310	N	1	B	0.30914	0.3	B	0.23275	0.045	T	0.27502	-1.0072	9	0.05833	T	0.94	.	4.5632	0.12170	0.0:0.2964:0.4118:0.2917	.	40	P02775	CXCL7_HUMAN	K	40	ENSP00000296028:Q40K	ENSP00000296028:Q40K	Q	-	1	0	PPBP	75072567	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-2.013000	0.01450	-0.787000	0.04510	-0.494000	0.04653	CAA		0.522	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		T	74853703	G	T	74853703	3	4	8	1	0	0	0	0	1	0	0	0	12303	1386	48	3	280	3	PPBP	4	74853703	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09		74853703	116300573	6	452											
GRID2	2895	genome.wustl.edu	37	4	94006418	94006418	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr4:94006418G>T	ENST00000282020.4	+	3	775	c.517G>T	c.(517-519)Gat>Tat	p.D173Y	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	173					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.D173Y(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TATATTCTATGATAGTGAATA	0.353																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)	4											89	92	91					4																	94006418		2203	4300	6503	94225441	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.517G>T	4.37:g.94006418G>T	ENSP00000282020:p.Asp173Tyr		94225441	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288196	0.80803	.	.	ENSG00000152208	ENST00000282020	D	0.90069	-2.61	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	D	0.93443	0.6795	10	0.87932	D	0	.	19.1731	0.93588	0.0:0.0:1.0:0.0	.	173;114	O43424;B4DYB9	GRID2_HUMAN;.	Y	173	ENSP00000282020:D173Y	ENSP00000282020:D173Y	D	+	1	0	GRID2	94225441	1.000000	0.71417	0.953000	0.39169	0.909000	0.53808	9.804000	0.99143	2.613000	0.88420	0.655000	0.94253	GAT		0.353	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			T	94006418	G	T	94006418	3	4	8	1	0	0	0	0	1	0	0	0	6772	1290	45	3	527	3	GRID2	4	94006418	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09	19152715	94006418	97147858	7	453											
LPCAT1	79888	genome.wustl.edu	37	5	1479751	1479751	+	Silent	SNP	G	G	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr5:1479751G>A	ENST00000283415.3	-	8	933	c.801C>T	c.(799-801)aaC>aaT	p.N267N		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	267					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.N267N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTTCCACTTGGTTGTGAAACT	0.448											OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	5											176	130	146					5																	1479751		2203	4300	6503	1532751	SO:0001819	synonymous_variant	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.801C>T	5.37:g.1479751G>A		596	1532751	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	CCDS3864.1																																																																																				0.448	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		A	1479751	G	A	1479751	2	1	8	1	0	0	0	0	0	0	0	1	8910	1252	44	2		2	LPCAT1	5	1479751	Silent	SNP	G	TCGA-04-1346-01A-01W-0488-09		1479751	179435509	8	454											
HMGCR	3156	genome.wustl.edu	37	5	74646662	74646662	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr5:74646662C>G	ENST00000287936.4	+	9	985	c.829C>G	c.(829-831)Cct>Gct	p.P277A	HMGCR_ENST00000343975.5_Missense_Mutation_p.P277A|HMGCR_ENST00000511206.1_Missense_Mutation_p.P277A	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	277					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)	p.P277A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GATAGCTGATCCTTCTCCTCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	5											131	131	131					5																	74646662		2203	4300	6503	74682418	SO:0001583	missense	3156				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.829C>G	5.37:g.74646662C>G	ENSP00000287936:p.Pro277Ala		74682418	B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356337	0.41700	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.42131	1.01;1.01;0.98	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	M	0.67953	2.075	0.58432	D	0.99999	B;B;B;B	0.09022	0.001;0.002;0.002;0.001	B;B;B;B	0.11329	0.002;0.003;0.006;0.003	T	0.36480	-0.9746	10	0.18276	T	0.48	-23.686	20.3248	0.98698	0.0:1.0:0.0:0.0	.	277;277;277;277	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	A	277;208;277;277	ENSP00000426745:P277A;ENSP00000287936:P277A;ENSP00000340816:P277A	ENSP00000287936:P277A	P	+	1	0	HMGCR	74682418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.220000	0.51207	2.818000	0.97014	0.655000	0.94253	CCT		0.383	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			G	74646662	C	G	74646662	3	3	8	1	0	0	0	0	1	0	0	0	7231	855	30	3	859	3	HMGCR	5	74646662	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09	73166911	74646662	106268598	9	455											
PCDH1	5097	genome.wustl.edu	37	5	141244788	141244788	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr5:141244788G>A	ENST00000394536.3	-	3	1247	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	PCDH1_ENST00000287008.3_Missense_Mutation_p.R370C|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.R348C|PCDH1_ENST00000456271.1_Missense_Mutation_p.R358C|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R370C(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACCTGGGCACGGGCACTCTTG	0.572																																					Ovarian(132;1609 1739 4190 14731 45037)											2	Substitution - Missense(2)	ovary(1)|lung(1)	5											130	121	124					5																	141244788		2203	4300	6503	141224972	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1108C>T	5.37:g.141244788G>A	ENSP00000378043:p.Arg370Cys		141224972	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.438930	0.83885	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.35	5.35	0.76521	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000129	T	0.67192	0.2867	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.969	T	0.69117	-0.5230	10	0.87932	D	0	.	16.645	0.85174	0.0:0.0:1.0:0.0	.	370;370	Q08174;Q08174-2	PCDH1_HUMAN;.	C	370;370;358;381;348	ENSP00000287008:R370C;ENSP00000378043:R370C;ENSP00000403497:R358C;ENSP00000350122:R381C;ENSP00000438825:R348C	ENSP00000287008:R370C	R	-	1	0	PCDH1	141224972	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.832000	0.55783	2.804000	0.96469	0.645000	0.84053	CGT		0.572	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		A	141244788	G	A	141244788	3	1	8	1	0	0	0	0	1	0	0	0	11506	1116	39	1	2701	1	PCDH1	5	141244788	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09	66598126	141244788	39670472	10	456											
HK3	3101	genome.wustl.edu	37	5	176311063	176311063	+	Missense_Mutation	SNP	G	G	A	rs142919032		TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr5:176311063G>A	ENST00000292432.5	-	14	2021	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	644	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.R644W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCTTCCCGCAACAGACTC	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		19836	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5						G	TRP/ARG	0,4406		0,0,2203	150	147	148		1930	4.9	1	5	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	missense	HK3	NM_002115.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	644/924	176311063	1,13005	2203	4300	6503	176243669	SO:0001583	missense	3101				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1930C>T	5.37:g.176311063G>A	ENSP00000292432:p.Arg644Trp		176243669	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.03	2.413888	0.42817	0.0	1.16E-4	ENSG00000160883	ENST00000292432;ENST00000514058	D;D	0.98419	-4.92;-4.92	5.8	4.92	0.64577	Hexokinase, N-terminal (1);	0.000000	0.47852	D	0.000213	D	0.99058	0.9677	M	0.90369	3.11	0.41404	D	0.98769	D	0.89917	1.0	D	0.97110	1.0	D	0.99734	1.1013	10	0.87932	D	0	.	14.5823	0.68300	0.0:0.0:0.7341:0.2659	.	644	P52790	HXK3_HUMAN	W	644;25	ENSP00000292432:R644W;ENSP00000424632:R25W	ENSP00000292432:R644W	R	-	1	2	HK3	176243669	1.000000	0.71417	0.998000	0.56505	0.068000	0.16541	3.353000	0.52247	1.436000	0.47453	0.462000	0.41574	CGG		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			A	176311063	G	A	176311063	3	1	8	1	0	0	0	0	1	0	0	0	7192	1086	38	1	865	1	HK3	5	176311063	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09	35066275	176311063	4604197	11	457											
LRRC16A	55604	genome.wustl.edu	37	6	25606436	25606436	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr6:25606436C>T	ENST00000329474.6	+	35	4150	c.3782C>T	c.(3781-3783)tCc>tTc	p.S1261F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1261					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.S1216F(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCCTGCAGTCCCCCAAACCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											43	51	48					6																	25606436		1935	4145	6080	25714415	SO:0001583	missense	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3782C>T	6.37:g.25606436C>T	ENSP00000331983:p.Ser1261Phe		25714415	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715083	0.68844	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.18810	2.19	5.85	5.85	0.93711	.	0.454754	0.24745	N	0.035960	T	0.21550	0.0519	M	0.63428	1.95	0.80722	D	1	P;P;P	0.43662	0.712;0.814;0.776	B;B;B	0.42798	0.309;0.309;0.398	T	0.01639	-1.1306	10	0.56958	D	0.05	-3.0065	20.1649	0.98147	0.0:1.0:0.0:0.0	.	1261;1255;1216	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	F	1261;1216	ENSP00000331983:S1261F	ENSP00000331983:S1261F	S	+	2	0	LRRC16A	25714415	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.935000	0.63498	2.753000	0.94483	0.655000	0.94253	TCC		0.577	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		T	25606436	C	T	25606436	3	4	8	1	0	0	0	0	1	0	0	0	8971	855	30	2	3920	2	LRRC16A	6	25606436	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09		25606436	145508631	12	458											
LAMA2	3908	genome.wustl.edu	37	6	129802420	129802420	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr6:129802420G>A	ENST00000421865.2	+	55	7634	c.7585G>A	c.(7585-7587)Gtt>Att	p.V2529I	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2529	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.V2529I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTTTACACAGTTAGCTTTCC	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											128	120	122					6																	129802420		2203	4300	6503	129844113	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7585G>A	6.37:g.129802420G>A	ENSP00000400365:p.Val2529Ile		129844113	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066908	0.76301	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.79653	-1.29	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	L	0.50919	1.6	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.82910	-0.0223	9	.	.	.	.	18.4873	0.90834	0.0:0.0:1.0:0.0	.	2530;2529	A6NF00;P24043	.;LAMA2_HUMAN	I	2529;2528;2529;547	ENSP00000400365:V2529I	.	V	+	1	0	LAMA2	129844113	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.113000	0.71553	2.540000	0.85666	0.563000	0.77884	GTT		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129802420	G	A	129802420	3	1	8	1	0	0	0	0	1	0	0	0	8606	1029	36	2	7803	2	LAMA2	6	129802420	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09	104195984	129802420	41312647	13	459											
L3MBTL3	84456	genome.wustl.edu	37	6	130376384	130376384	+	Silent	SNP	G	G	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr6:130376384G>A	ENST00000529410.1	+	10	1130	c.651G>A	c.(649-651)tcG>tcA	p.S217S	L3MBTL3_ENST00000361794.2_Silent_p.S217S|L3MBTL3_ENST00000533560.1_Silent_p.S192S|L3MBTL3_ENST00000368136.2_Silent_p.S217S|L3MBTL3_ENST00000526019.1_Silent_p.S192S|L3MBTL3_ENST00000368139.2_Silent_p.S192S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	217					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S217S(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAGGGGATTCGGCTGTACTAA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	6											108	114	112					6																	130376384		2203	4300	6503	130418077	SO:0001819	synonymous_variant	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.651G>A	6.37:g.130376384G>A			130418077	Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	CCDS34537.1																																																																																				0.393	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		A	130376384	G	A	130376384	2	1	8	1	0	0	0	0	0	0	0	1	8593	1103	39	1		1	L3MBTL3	6	130376384	Silent	SNP	G	TCGA-04-1346-01A-01W-0488-09	573964	130376384	40738683	14	460											
BBS9	27241	genome.wustl.edu	37	7	33397562	33397562	+	Missense_Mutation	SNP	A	A	G	rs150399299	byFrequency	TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr7:33397562A>G	ENST00000242067.6	+	16	2169	c.1648A>G	c.(1648-1650)Att>Gtt	p.I550V	BBS9_ENST00000355070.2_Missense_Mutation_p.I545V|BBS9_ENST00000354265.4_Missense_Mutation_p.I515V|BBS9_ENST00000350941.3_Missense_Mutation_p.I510V|BBS9_ENST00000396127.2_Missense_Mutation_p.I515V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	550					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.I550V(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CAAAATTACTATTGATACCAA	0.378									Bardet-Biedl syndrome				A|||	6	0.00119808	0.0045	0	5008	,	,		15632	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7						A	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	23,4383	30.8+/-60.4	0,23,2180	102	103	103		1543,1633,1528,1648	5.8	1	7	dbSNP_134	103	0,8598		0,0,4299	yes	missense,missense,missense,missense	BBS9	NM_001033604.1,NM_001033605.1,NM_014451.3,NM_198428.2	29,29,29,29	0,23,6479	GG,GA,AA		0.0,0.522,0.1769	benign,benign,benign,benign	515/853,545/883,510/848,550/888	33397562	23,12981	2203	4299	6502	33364087	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1648A>G	7.37:g.33397562A>G	ENSP00000242067:p.Ile550Val		33364087	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	4|4	0.0018315018315018315|0.0018315018315018315	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	A|A	13.60|13.60	2.286746|2.286746	0.40494|0.40494	0.00522|0.00522	0.0|0.0	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.13089|.	2.62;2.62;2.62;2.62;2.62|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.117376|.	0.64402|.	D|.	0.000010|.	T|T	0.54029|0.54029	0.1833|0.1833	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.27656|.	0.184;0.184;0.184;0.184;0.086|.	B;B;B;B;B|.	0.31101|.	0.124;0.124;0.124;0.124;0.101|.	T|T	0.55823|0.55823	-0.8080|-0.8080	10|5	0.38643|.	T|.	0.18|.	-25.3837|-25.3837	15.8978|15.8978	0.79346|0.79346	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	550;510;545;515;550|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	V|C	550;510;515;545;515;550|116	ENSP00000242067:I550V;ENSP00000313122:I510V;ENSP00000379433:I515V;ENSP00000347182:I545V;ENSP00000346214:I515V|.	ENSP00000242067:I550V|.	I|Y	+|+	1|2	0|0	BBS9|BBS9	33364087|33364087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	5.041000|5.041000	0.64196|0.64196	2.240000|2.240000	0.73641|0.73641	0.523000|0.523000	0.50628|0.50628	ATT|TAT		0.378	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			G	33397562	A	G	33397562	3	3	8	1	0	0	0	0	1	0	0	0	1342	449	16	4	1706	4	BBS9	7	33397562	Missense_Mutation	SNP	A	TCGA-04-1346-01A-01W-0488-09		33397562	125741101	15	461											
ANLN	54443	genome.wustl.edu	37	7	36466558	36466558	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr7:36466558G>A	ENST00000265748.2	+	20	3025	c.2804G>A	c.(2803-2805)cGa>cAa	p.R935Q	ANLN_ENST00000396068.2_Missense_Mutation_p.R898Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	935	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.R935Q(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGTGCTGTGCGAACCAGCAAC	0.383																																																1	Substitution - Missense(1)	ovary(1)	7											99	96	97					7																	36466558		2203	4300	6503	36433083	SO:0001583	missense	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2804G>A	7.37:g.36466558G>A	ENSP00000265748:p.Arg935Gln		36433083	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.631370|4.631370	0.87660|0.87660	.|.	.|.	ENSG00000011426|ENSG00000011426	ENST00000457743|ENST00000265748;ENST00000396068	.|T;T	.|0.48522	.|0.81;0.81	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71643|0.71643	0.3364|0.3364	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0	T|T	0.73833|0.73833	-0.3858|-0.3858	5|10	.|0.87932	.|D	.|0	-10.8706|-10.8706	19.0792|19.0792	0.93175|0.93175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|812;897;898;935	.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.;.;.;ANLN_HUMAN	K|Q	139|935;898	.|ENSP00000265748:R935Q;ENSP00000379380:R898Q	.|ENSP00000265748:R935Q	E|R	+|+	1|2	0|0	ANLN|ANLN	36433083|36433083	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.233000|0.233000	0.25261|0.25261	7.831000|7.831000	0.86748|0.86748	2.755000|2.755000	0.94549|0.94549	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.383	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		A	36466558	G	A	36466558	3	1	8	1	0	0	0	0	1	0	0	0	694	1058	37	1	2882	1	ANLN	7	36466558	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09	3068996	36466558	122672105	16	462											
DLC1	10395	genome.wustl.edu	37	8	13251203	13251203	+	Splice_Site	SNP	C	C	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr8:13251203C>T	ENST00000276297.4	-	4	1583		c.e4-1		DLC1_ENST00000316609.5_Splice_Site|DLC1_ENST00000511869.1_Splice_Site	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.?(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATTCCAGATCCTATTAAAAAA	0.428																																																2	Unknown(2)	ovary(2)	8											111	105	107					8																	13251203		2203	4300	6503	13295574	SO:0001630	splice_region_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1174-1G>A	8.37:g.13251203C>T			13295574	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Splice_Site	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968801	0.74131	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9175	0.86155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLC1	13295574	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	4.843000	0.62838	2.740000	0.93945	0.650000	0.86243	.		0.428	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	Intron	T	13251203	C	T	13251203	5	4	8	1	0	0	0	0	0	0	1	0	4550	695	24	2	3558	2	DLC1	8	13251203	Splice_Site	SNP	C	TCGA-04-1346-01A-01W-0488-09		13251203	133112819	17	463											
DBH	1621	genome.wustl.edu	37	9	136507529	136507529	+	Silent	SNP	G	G	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr9:136507529G>A	ENST00000393056.2	+	3	699	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	229					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.T229T(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	AGGAGACCACGTACTGGTGCT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	9											57	54	55					9																	136507529		2203	4300	6503	135497350	SO:0001819	synonymous_variant	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.687G>A	9.37:g.136507529G>A			135497350	Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	CCDS6977.2																																																																																				0.597	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		A	136507529	G	A	136507529	2	1	8	1	0	0	0	0	0	0	0	1	4250	1132	40	1		1	DBH	9	136507529	Silent	SNP	G	TCGA-04-1346-01A-01W-0488-09		136507529	4705902	18	464											
GPR158	57512	genome.wustl.edu	37	10	25887877	25887877	+	Missense_Mutation	SNP	C	C	T	rs372238950		TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr10:25887877C>T	ENST00000376351.3	+	11	3681	c.3322C>T	c.(3322-3324)Cgt>Tgt	p.R1108C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1108					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1108C(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGTCAGCCTCGTGCAGCCAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	10											84	89	87					10																	25887877		2203	4300	6503	25927883	SO:0001583	missense	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3322C>T	10.37:g.25887877C>T	ENSP00000365529:p.Arg1108Cys		25927883	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	1.905	-0.452118	0.04540	.	.	ENSG00000151025	ENST00000376351	T	0.60548	0.18	5.79	-6.54	0.01860	.	1.919920	0.02347	N	0.075465	T	0.28928	0.0718	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16719	-1.0393	10	0.49607	T	0.09	.	3.5595	0.07877	0.1622:0.2747:0.0808:0.4823	.	1108	Q5T848	GP158_HUMAN	C	1108	ENSP00000365529:R1108C	ENSP00000365529:R1108C	R	+	1	0	GPR158	25927883	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.312000	0.08113	-1.726000	0.01370	0.655000	0.94253	CGT		0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		T	25887877	C	T	25887877	3	4	8	1	0	0	0	0	1	0	0	0	6663	884	31	1	3364	1	GPR158	10	25887877	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09		25887877	109646870	19	465											
SLIT1	6585	genome.wustl.edu	37	10	98802721	98802721	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr10:98802721G>C	ENST00000266058.4	-	20	2346	c.2101C>G	c.(2101-2103)Cct>Gct	p.P701A	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.P701A	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	701	LRRCT 3.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.P701A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AAAAAGTCAGGGTTCTGGCAT	0.627																																																1	Substitution - Missense(1)	ovary(1)	10											75	72	73					10																	98802721		2203	4300	6503	98792711	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2101C>G	10.37:g.98802721G>C	ENSP00000266058:p.Pro701Ala		98792711	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377068	0.82682	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;D	0.92965	-3.14;-3.14;-3.14	4.73	4.73	0.59995	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.98645	1.0677	10	0.87932	D	0	.	17.8876	0.88862	0.0:0.0:1.0:0.0	.	711;701	E7EWQ8;O75093	.;SLIT1_HUMAN	A	701;711;701;694	ENSP00000266058:P701A;ENSP00000360109:P701A;ENSP00000315005:P694A	ENSP00000266058:P701A	P	-	1	0	SLIT1	98792711	1.000000	0.71417	0.996000	0.52242	0.766000	0.43426	9.263000	0.95617	2.442000	0.82660	0.561000	0.74099	CCT		0.627	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		C	98802721	G	C	98802721	3	2	8	1	0	0	0	0	1	0	0	0	14742	1232	43	3	2575	3	SLIT1	10	98802721	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09	72914844	98802721	36732026	20	466											
OR51G1	79324	genome.wustl.edu	37	11	4944749	4944749	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr11:4944749A>G	ENST00000321961.2	-	1	888	c.821T>C	c.(820-822)gTa>gCa	p.V274A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V274A(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGAGGTGTACAACGCGGGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											204	170	182					11																	4944749		2201	4298	6499	4901325	SO:0001583	missense	79324			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.821T>C	11.37:g.4944749A>G	ENSP00000322546:p.Val274Ala		4901325	B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	A	5.014	0.188240	0.09547	.	.	ENSG00000176879	ENST00000321961	T	0.00099	8.73	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.229218	0.21943	U	0.066856	T	0.00178	0.0005	L	0.37507	1.11	0.09310	N	1	B	0.23540	0.087	B	0.36092	0.217	T	0.26018	-1.0115	10	0.59425	D	0.04	.	7.6758	0.28484	0.9042:0.0:0.0958:0.0	.	274	Q8NGK1	O51G1_HUMAN	A	274	ENSP00000322546:V274A	ENSP00000322546:V274A	V	-	2	0	OR51G1	4901325	0.000000	0.05858	0.629000	0.29254	0.124000	0.20399	0.514000	0.22786	1.911000	0.55334	0.455000	0.32223	GTA		0.483	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		G	4944749	A	G	4944749	3	3	8	1	0	0	0	0	1	0	0	0	11098	391	14	4	146	4	OR51G1	11	4944749	Missense_Mutation	SNP	A	TCGA-04-1346-01A-01W-0488-09		4944749	130061767	21	467											
FSHB	2488	genome.wustl.edu	37	11	30255218	30255218	+	Silent	SNP	T	T	C			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr11:30255218T>C	ENST00000417547.1	+	3	300	c.261T>C	c.(259-261)caT>caC	p.H87H	FSHB_ENST00000533718.1_Silent_p.H87H|FSHB_ENST00000254122.3_Silent_p.H87H	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	87					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.H87H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						GTGCTCACCATGCAGATTCCT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	11											111	91	98					11																	30255218		2202	4299	6501	30211794	SO:0001819	synonymous_variant	2488				CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"Endogenous ligands"	3964	protein-coding gene	gene with protein product	"follitropin, beta chain", "follicle-stimulating hormone beta subunit"	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.261T>C	11.37:g.30255218T>C			30211794	A2TF08|A5JVV3|Q14D61	Silent	SNP	ENST00000417547.1	37	CCDS7868.1																																																																																				0.532	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		C	30255218	T	C	30255218	2	2	8	1	0	0	0	0	0	0	0	1	6072	1461	51	4		4	FSHB	11	30255218	Silent	SNP	T	TCGA-04-1346-01A-01W-0488-09	25310469	30255218	104751298	22	468											
QSER1	79832	genome.wustl.edu	37	11	32997955	32997955	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr11:32997955T>C	ENST00000399302.2	+	13	5478	c.5143T>C	c.(5143-5145)Tgg>Cgg	p.W1715R	QSER1_ENST00000527788.1_Missense_Mutation_p.W1476R	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1715								p.W1715R(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)					AAATGTAAAATGGGTGGAGGA	0.323																																																1	Substitution - Missense(1)	ovary(1)	11											85	83	84					11																	32997955		1802	4063	5865	32954531	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.5143T>C	11.37:g.32997955T>C	ENSP00000382241:p.Trp1715Arg		32954531	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299198	0.60195	.	.	ENSG00000060749	ENST00000399302;ENST00000527788	T;T	0.73789	-0.55;-0.78	5.78	5.78	0.91487	.	0.000000	0.33199	U	0.005177	D	0.85004	0.5598	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	D	0.86567	0.1845	10	0.87932	D	0	.	16.1099	0.81255	0.0:0.0:0.0:1.0	.	1476;1715	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	R	1715;1476	ENSP00000382241:W1715R;ENSP00000432766:W1476R	ENSP00000382241:W1715R	W	+	1	0	QSER1	32954531	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.979000	0.76154	2.215000	0.71742	0.460000	0.39030	TGG		0.323	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		C	32997955	T	C	32997955	3	2	8	1	0	0	0	0	1	0	0	0	12885	1464	51	4	5185	4	QSER1	11	32997955	Missense_Mutation	SNP	T	TCGA-04-1346-01A-01W-0488-09	2742737	32997955	102008561	23	469											
CREB3L1	90993	genome.wustl.edu	37	11	46332692	46332692	+	Silent	SNP	G	G	A	rs545047399		TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr11:46332692G>A	ENST00000529193.1	+	5	1156	c.705G>A	c.(703-705)gcG>gcA	p.A235A	CREB3L1_ENST00000288400.3_Silent_p.A235A			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	235					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.A235A(1)	FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GGCCCATGGCGCGCTCCTCCA	0.652			T	FUS	myxofibrosarcoma								G|||	1	0.000199681	0	0	5008	,	,		15061	0		0	False		,,,				2504	0.001				Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	1	Substitution - coding silent(1)	ovary(1)	11											22	27	26					11																	46332692		1979	4153	6132	46289268	SO:0001819	synonymous_variant	90993				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.705G>A	11.37:g.46332692G>A			46289268	Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	37	CCDS53620.1																																																																																				0.652	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		A	46332692	G	A	46332692	2	1	8	1	0	0	0	0	0	0	0	1	3856	1074	38	1		1	CREB3L1	11	46332692	Silent	SNP	G	TCGA-04-1346-01A-01W-0488-09	13334737	46332692	88673824	24	470											
DLG2	1740	genome.wustl.edu	37	11	83182725	83182725	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr11:83182725C>T	ENST00000532653.1	-	19	2323	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	DLG2_ENST00000524982.1_Missense_Mutation_p.R688Q|DLG2_ENST00000376106.3_Missense_Mutation_p.R156Q|DLG2_ENST00000418306.2_Missense_Mutation_p.R571Q|DLG2_ENST00000404783.3_Missense_Mutation_p.R170Q|DLG2_ENST00000280241.8_Missense_Mutation_p.R731Q|DLG2_ENST00000330014.6_Missense_Mutation_p.R613Q|DLG2_ENST00000426717.2_Missense_Mutation_p.R156Q|DLG2_ENST00000537455.1_Missense_Mutation_p.R442Q|DLG2_ENST00000543673.1_Missense_Mutation_p.R797Q|DLG2_ENST00000398309.2_Missense_Mutation_p.R692Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R797Q|DLG2_ENST00000531015.1_Missense_Mutation_p.R659Q			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	389					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.R692Q(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCATTGATCCGATCCTTCAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	11											68	65	66					11																	83182725		1847	4093	5940	82860373	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2021G>A	11.37:g.83182725C>T	ENSP00000435849:p.Arg674Gln		82860373	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.394084	0.96009	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000457267;ENST00000420775	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;0.95	5.08	5.08	0.68730	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000018	T	0.72170	0.3427	M	0.89658	3.05	0.80722	D	1	D;D;P;D;D;D;D;D	0.89917	1.0;1.0;0.801;1.0;0.991;1.0;1.0;1.0	D;D;P;D;P;D;D;D	0.91635	0.999;0.999;0.459;0.989;0.611;0.988;0.97;0.976	T	0.78135	-0.2322	9	.	.	.	.	18.8341	0.92153	0.0:1.0:0.0:0.0	.	659;674;688;613;170;797;692;571	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	Q	692;156;797;571;797;731;170;613;442;156;688;674;797;659;44;174	ENSP00000381355:R692Q;ENSP00000393049:R156Q;ENSP00000365272:R797Q;ENSP00000402275:R571Q;ENSP00000441994:R797Q;ENSP00000280241:R731Q;ENSP00000385113:R170Q;ENSP00000381353:R613Q;ENSP00000443248:R442Q;ENSP00000365274:R156Q;ENSP00000432894:R688Q;ENSP00000435849:R674Q;ENSP00000433848:R659Q;ENSP00000409133:R44Q;ENSP00000391017:R174Q	.	R	-	2	0	DLG2	82860373	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.765000	0.85310	2.510000	0.84645	0.591000	0.81541	CGG		0.433	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		T	83182725	C	T	83182725	3	4	8	1	0	0	0	0	1	0	0	0	4555	652	23	1	557	1	DLG2	11	83182725	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09	36850033	83182725	51823791	25	471											
CRTAM	56253	genome.wustl.edu	37	11	122726478	122726478	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr11:122726478G>T	ENST00000227348.4	+	5	613	c.566G>T	c.(565-567)gGc>gTc	p.G189V		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.G189V(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CACACTTATGGCAAAAATTCA	0.418																																																1	Substitution - Missense(1)	ovary(1)	11											109	105	106					11																	122726478		2202	4299	6501	122231688	SO:0001583	missense	56253			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	24313	protein-coding gene	gene with protein product	"class I MHC restricted T cell associated molecule"	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.566G>T	11.37:g.122726478G>T	ENSP00000227348:p.Gly189Val		122231688		Missense_Mutation	SNP	ENST00000227348.4	37	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326397	0.41197	.	.	ENSG00000109943	ENST00000227348	T	0.14022	2.54	4.86	3.83	0.44106	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	0.495810	0.22537	N	0.058774	T	0.26231	0.0640	M	0.69823	2.125	0.09310	N	1	D	0.54601	0.967	P	0.57720	0.826	T	0.08994	-1.0695	10	0.59425	D	0.04	.	5.4314	0.16456	0.1964:0.1619:0.6417:0.0	.	189	O95727	CRTAM_HUMAN	V	189	ENSP00000227348:G189V	ENSP00000227348:G189V	G	+	2	0	CRTAM	122231688	0.000000	0.05858	0.006000	0.13384	0.048000	0.14542	0.467000	0.22035	1.016000	0.39470	0.462000	0.41574	GGC		0.418	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		T	122726478	G	T	122726478	3	4	8	1	0	0	0	0	1	0	0	0	3897	1203	42	3	584	3	CRTAM	11	122726478	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09	39543753	122726478	12280038	26	472											
LRRIQ1	84125	genome.wustl.edu	37	12	85518019	85518019	+	Silent	SNP	T	T	C			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr12:85518019T>C	ENST00000393217.2	+	17	3790	c.3729T>C	c.(3727-3729)acT>acC	p.T1243T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1243								p.T1243T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTGACAGCACTCTGCAAAATG	0.473																																																1	Substitution - coding silent(1)	ovary(1)	12											100	104	103					12																	85518019		2203	4300	6503	84042150	SO:0001819	synonymous_variant	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3729T>C	12.37:g.85518019T>C			84042150	Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	CCDS41816.1																																																																																				0.473	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		C	85518019	T	C	85518019	2	2	8	1	0	0	0	0	0	0	0	1	9029	1538	54	4		4	LRRIQ1	12	85518019	Silent	SNP	T	TCGA-04-1346-01A-01W-0488-09		85518019	48333876	27	473											
HAL	3034	genome.wustl.edu	37	12	96370239	96370239	+	Missense_Mutation	SNP	C	C	G	rs377498665		TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr12:96370239C>G	ENST00000261208.3	-	20	2169	c.1801G>C	c.(1801-1803)Gag>Cag	p.E601Q	HAL_ENST00000541929.1_Missense_Mutation_p.E393Q|HAL_ENST00000538703.1_Intron	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	601					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.E601Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TGGGCTGCCTCGATGTCCGGG	0.537																																					NSCLC(169;943 2815 23563 30031)											1	Substitution - Missense(1)	ovary(1)	12											62	69	67					12																	96370239		2203	4300	6503	94894370	SO:0001583	missense	3034				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1801G>C	12.37:g.96370239C>G	ENSP00000261208:p.Glu601Gln		94894370	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	CCDS9058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423259|5.423259	0.96111|0.96111	.|.	.|.	ENSG00000084110|ENSG00000084110	ENST00000261208;ENST00000541929|ENST00000548808	T;T|.	0.78003|.	-1.14;-1.14|.	5.4|5.4	5.4|5.4	0.78164|0.78164	L-Aspartase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76205|0.76205	0.3955|0.3955	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.55011|.	0.766|.	T|T	0.75348|0.75348	-0.3349|-0.3349	10|5	0.59425|.	D|.	0.04|.	-21.4163|-21.4163	19.1606|19.1606	0.93529|0.93529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	601|.	P42357|.	HUTH_HUMAN|.	Q|P	601;393|132	ENSP00000261208:E601Q;ENSP00000446364:E393Q|.	ENSP00000261208:E601Q|.	E|R	-|-	1|2	0|0	HAL|HAL	94894370|94894370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	7.407000|7.407000	0.80029|0.80029	2.535000|2.535000	0.85469|0.85469	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.537	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			G	96370239	C	G	96370239	3	3	8	1	0	0	0	0	1	0	0	0	6947	893	31	3	180	3	HAL	12	96370239	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09	10852220	96370239	37481656	28	474											
TMEM159	57146	genome.wustl.edu	37	16	21190856	21190856	+	Silent	SNP	C	C	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr16:21190856C>T	ENST00000233047.4	+	5	933	c.465C>T	c.(463-465)ttC>ttT	p.F155F	TMEM159_ENST00000451578.2_Silent_p.F179F|TMEM159_ENST00000261388.3_Silent_p.F155F|TMEM159_ENST00000572599.1_Silent_p.F155F|TMEM159_ENST00000572258.1_3'UTR			Q96B96	TM159_HUMAN	transmembrane protein 159	155						integral component of membrane (GO:0016021)		p.F155F(1)		large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CTGCAGAATTCGAGGGGCTTT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	16											100	92	95					16																	21190856		2200	4300	6500	21098357	SO:0001819	synonymous_variant	57146			AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.465C>T	16.37:g.21190856C>T			21098357	A6NMA9|B4DEC1|O00323	Silent	SNP	ENST00000233047.4	37	CCDS10595.1																																																																																				0.502	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	NM_020422		T	21190856	C	T	21190856	2	4	8	1	0	0	0	0	0	0	0	1	16074	883	31	1		1	TMEM159	16	21190856	Silent	SNP	C	TCGA-04-1346-01A-01W-0488-09		21190856	69163897	29	475											
TP53	7157	genome.wustl.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	17											47	47	47					17																	7578394		2203	4300	6503	7519119	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		7519119	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	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578394	T	C	7578394	3	2	8	1	0	0	0	0	1	0	0	0	16381	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-04-1346-01A-01W-0488-09		7578394	73616816	30	476											
KCNAB3	9196	genome.wustl.edu	37	17	7827515	7827515	+	Silent	SNP	C	C	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr17:7827515C>T	ENST00000303790.2	-	10	779	c.780G>A	c.(778-780)ctG>ctA	p.L260L		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	260					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.L260L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCCTCTGAAACAGATGGTGCT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	17											124	110	115					17																	7827515		2203	4300	6503	7768240	SO:0001819	synonymous_variant	9196			AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"Potassium channels", "Aldo-keto reductases"	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.780G>A	17.37:g.7827515C>T			7768240	Q4VAW0	Silent	SNP	ENST00000303790.2	37	CCDS11124.1																																																																																				0.532	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		T	7827515	C	T	7827515	2	4	8	1	0	0	0	0	0	0	0	1	8011	465	17	2		2	KCNAB3	17	7827515	Silent	SNP	C	TCGA-04-1346-01A-01W-0488-09	249121	7827515	73367695	31	477											
CYTSB	92521	genome.wustl.edu	37	17	20108296	20108296	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr17:20108296T>C	ENST00000261503.5	+	4	985	c.934T>C	c.(934-936)Tca>Cca	p.S312P	SPECC1_ENST00000584527.1_5'Flank|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395530.2_Missense_Mutation_p.S231P|SPECC1_ENST00000395525.3_Missense_Mutation_p.S231P|SPECC1_ENST00000395527.4_Missense_Mutation_p.S312P|SPECC1_ENST00000395529.3_Missense_Mutation_p.S312P|SPECC1_ENST00000395522.2_Missense_Mutation_p.S231P|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	312	Ser-rich.				cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.S312P(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATTACGGACATCAGGCTCCTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	17											104	109	107					17																	20108296		2203	4300	6503	20048888	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.934T>C	17.37:g.20108296T>C	ENSP00000261503:p.Ser312Pro		20048888	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	T	7.422	0.636993	0.14386	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.66099	-0.19;2.81;2.81;2.81	5.38	4.29	0.51040	.	0.053264	0.85682	D	0.000000	T	0.49677	0.1571	L	0.39147	1.195	0.80722	D	1	B;B;B;B;B	0.24043	0.009;0.096;0.096;0.096;0.044	B;B;B;B;B	0.24006	0.019;0.05;0.05;0.05;0.039	T	0.47005	-0.9150	10	0.33141	T	0.24	-13.9252	8.9918	0.36028	0.0:0.0873:0.0:0.9127	.	312;231;231;312;312	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	P	312;312;312;231;231;231	ENSP00000261503:S312P;ENSP00000378900:S312P;ENSP00000378893:S231P;ENSP00000378896:S231P	ENSP00000261503:S312P	S	+	1	0	SPECC1	20048888	1.000000	0.71417	0.086000	0.20670	0.203000	0.24098	4.622000	0.61240	2.179000	0.69175	0.533000	0.62120	TCA		0.458	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		C	20108296	T	C	20108296	3	2	8	1	0	0	0	0	1	0	0	0	4210	1435	50	4	988	4	CYTSB	17	20108296	Missense_Mutation	SNP	T	TCGA-04-1346-01A-01W-0488-09	12280781	20108296	61086914	32	478											
GRB7	2886	genome.wustl.edu	37	17	37903121	37903121	+	Missense_Mutation	SNP	C	C	T	rs373351063		TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr17:37903121C>T	ENST00000309156.4	+	15	1827	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	GRB7_ENST00000445327.2_Missense_Mutation_p.R547C|GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000394209.2_Missense_Mutation_p.R524C|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.R524C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	524	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.R524C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTGCTTGCTGCGCCATTGCTG	0.662																																																1	Substitution - Missense(1)	ovary(1)	17						C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	72	55	61		1570,1639,1570,1570	4.9	1	17		61	0,8600		0,0,4300	no	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	524/533,547/556,524/533,524/533	37903121	1,13005	2203	4300	6503	35156647	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1570C>T	17.37:g.37903121C>T	ENSP00000310771:p.Arg524Cys		35156647	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627785	0.87560	2.27E-4	0.0	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.89	4.89	0.63831	SH2 motif (2);	0.058919	0.64402	D	0.000003	T	0.53834	0.1821	M	0.67569	2.06	0.80722	D	1	D	0.67145	0.996	P	0.56434	0.798	T	0.57429	-0.7813	10	0.72032	D	0.01	-29.1217	10.5845	0.45275	0.3011:0.6989:0.0:0.0	.	524	Q14451	GRB7_HUMAN	C	524;524;524;547	ENSP00000310771:R524C;ENSP00000377761:R524C;ENSP00000377759:R524C;ENSP00000403459:R547C	ENSP00000310771:R524C	R	+	1	0	GRB7	35156647	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.255000	0.58804	2.541000	0.85698	0.655000	0.94253	CGC		0.662	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		T	37903121	C	T	37903121	3	4	8	1	0	0	0	0	1	0	0	0	6759	768	27	1	1624	1	GRB7	17	37903121	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09	17794825	37903121	43292089	33	479											
C18orf8	29919	genome.wustl.edu	37	18	21100208	21100208	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr18:21100208G>A	ENST00000269221.3	+	10	1002	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	C18orf8_ENST00000590868.1_Missense_Mutation_p.G250S	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	298						lysosomal membrane (GO:0005765)		p.G298S(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAGTTTGACGGCTCCGTTAC	0.517																																																1	Substitution - Missense(1)	ovary(1)	18											164	135	145					18																	21100208		2203	4300	6503	19354206	SO:0001583	missense	29919			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.892G>A	18.37:g.21100208G>A	ENSP00000269221:p.Gly298Ser		19354206	Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415476	0.62511	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.5	5.5	0.81552	.	0.052112	0.85682	D	0.000000	T	0.66406	0.2786	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.59825	0.735;0.864	T	0.60209	-0.7308	9	0.24483	T	0.36	-2.0371	19.4067	0.94649	0.0:0.0:1.0:0.0	.	298;250	Q96DM3;F5H2W0	MIC1_HUMAN;.	S	298;141;250;141	.	ENSP00000269221:G298S	G	+	1	0	C18orf8	19354206	1.000000	0.71417	0.952000	0.39060	0.181000	0.23173	3.924000	0.56476	2.585000	0.87301	0.462000	0.41574	GGC		0.517	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		A	21100208	G	A	21100208	3	1	8	1	0	0	0	0	1	0	0	0	1907	1116	39	1	930	1	C18orf8	18	21100208	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09		21100208	56977040	34	480											
MAST1	22983	genome.wustl.edu	37	19	12969432	12969432	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr19:12969432G>C	ENST00000251472.4	+	12	1284	c.1245G>C	c.(1243-1245)caG>caC	p.Q415H	MAST1_ENST00000591495.1_Missense_Mutation_p.Q411H	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.Q415H(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCGCAACCAGATCCAGCAGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											95	81	86					19																	12969432		2203	4300	6503	12830432	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1245G>C	19.37:g.12969432G>C	ENSP00000251472:p.Gln415His		12830432		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687878	0.68271	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.66815	-0.23	4.75	3.71	0.42584	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	0.75265	0.3826	L	0.58354	1.805	0.52099	D	0.999946	D;P	0.89917	1.0;0.746	D;P	0.97110	1.0;0.661	T	0.75662	-0.3240	10	0.87932	D	0	-32.4787	7.6981	0.28606	0.1941:0.0:0.8059:0.0	.	415;415	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	H	415	ENSP00000251472:Q415H	ENSP00000251472:Q415H	Q	+	3	2	MAST1	12830432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.498000	0.53302	1.140000	0.42260	0.561000	0.74099	CAG		0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		C	12969432	G	C	12969432	3	2	8	1	0	0	0	0	1	0	0	0	9324	933	33	3	1291	3	MAST1	19	12969432	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09		12969432	46159551	35	481											
NOTCH3	4854	genome.wustl.edu	37	19	15298004	15298004	+	Silent	SNP	G	G	A	rs201207820		TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr19:15298004G>A	ENST00000263388.2	-	11	1827	c.1752C>T	c.(1750-1752)gaC>gaT	p.D584D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	584	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D584D(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCGGCATTCGTCCACCTGGC	0.657													G|||	1	0.000199681	0	0	5008	,	,		15248	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19											42	40	40					19																	15298004		2203	4300	6503	15159004	SO:0001819	synonymous_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1752C>T	19.37:g.15298004G>A			15159004	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																				0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15298004	G	A	15298004	2	1	8	1	0	0	0	0	0	0	0	1	10550	1136	40	1		1	NOTCH3	19	15298004	Silent	SNP	G	TCGA-04-1346-01A-01W-0488-09	2328572	15298004	43830979	36	482											
ZNF493	284443	genome.wustl.edu	37	19	21587960	21587960	+	Intron	SNP	A	A	G			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr19:21587960A>G	ENST00000355504.4	+	1	135				ZNF493_ENST00000596302.1_Missense_Mutation_p.I20M|ZNF493_ENST00000594390.1_Missense_Mutation_p.I20M|CTD-2561J22.3_ENST00000600810.1_5'Flank|ZNF493_ENST00000392288.2_Missense_Mutation_p.I20M|ZNF493_ENST00000339914.6_Missense_Mutation_p.I20M	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATGTGGCCATAGAATTCTCTC	0.443																																																0			19											86	91	89					19																	21587960		2203	4300	6503	21379800	SO:0001627	intron_variant	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-132+7891A>G	19.37:g.21587960A>G			21379800	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.13	1.548570	0.27652	.	.	ENSG00000196268	ENST00000392288;ENST00000339914	T;T	0.01871	4.59;4.59	1.14	1.14	0.20703	.	.	.	.	.	T	0.08223	0.0205	M	0.72624	2.21	0.21325	N	0.999725	D;D	0.89917	0.966;1.0	P;D	0.70487	0.844;0.969	T	0.20739	-1.0266	9	0.87932	D	0	.	4.44	0.11570	1.0:0.0:0.0:0.0	.	20;20	Q6ZR52-2;G5E974	.;.	M	20	ENSP00000376110:I20M;ENSP00000340651:I20M	ENSP00000340651:I20M	I	+	3	3	ZNF493	21379800	0.537000	0.26386	0.999000	0.59377	0.454000	0.32378	-0.366000	0.07563	0.759000	0.33084	0.338000	0.21704	ATA		0.443	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		G	21587960	A	G	21587960	1	3	8	0	1	0	0	0	0	0	0	0	17944	410	15	4		4	ZNF493	19	21587960	Intron	SNP	A	TCGA-04-1346-01A-01W-0488-09	6289956	21587960	37541023	37	483											
TSHZ3	57616	genome.wustl.edu	37	19	31770078	31770078	+	Silent	SNP	G	G	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr19:31770078G>A	ENST00000240587.4	-	2	948	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	207					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I24I(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCCCCGTGAAGATGGAGCCAT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	19											79	73	75					19																	31770078		2203	4300	6503	36461918	SO:0001819	synonymous_variant	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.621C>T	19.37:g.31770078G>A			36461918	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31770078	G	A	31770078	2	1	8	1	0	0	0	0	0	0	0	1	16625	932	33	2		2	TSHZ3	19	31770078	Silent	SNP	G	TCGA-04-1346-01A-01W-0488-09	10182118	31770078	27358905	38	484											
APLP1	333	genome.wustl.edu	37	19	36370049	36370049	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr19:36370049T>A	ENST00000221891.4	+	16	1979	c.1787T>A	c.(1786-1788)cTc>cAc	p.L596H	APLP1_ENST00000586861.1_Missense_Mutation_p.L589H|RN7SL402P_ENST00000465059.1_RNA|APLP1_ENST00000537454.2_Missense_Mutation_p.L556H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	595					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.L596H(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAGGCTCCCTCATCGTCCTC	0.657																																																1	Substitution - Missense(1)	ovary(1)	19											57	56	56					19																	36370049		2203	4300	6503	41061889	SO:0001583	missense	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1787T>A	19.37:g.36370049T>A	ENSP00000221891:p.Leu596His		41061889	O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430907	0.62844	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96011	-3.88;-3.88	4.86	3.8	0.43715	Beta-amyloid precursor protein C-terminal (1);	0.248415	0.20933	N	0.083061	D	0.93080	0.7797	N	0.08118	0	0.33941	D	0.643278	D;D;D;D	0.76494	0.992;0.998;0.999;0.999	P;P;D;D	0.66847	0.819;0.887;0.935;0.947	D	0.93545	0.6881	10	0.87932	D	0	-16.4964	8.2449	0.31682	0.0:0.0:0.2021:0.7979	.	589;556;596;595	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	556;596	ENSP00000441501:L556H;ENSP00000221891:L596H	ENSP00000221891:L596H	L	+	2	0	APLP1	41061889	1.000000	0.71417	0.030000	0.17652	0.828000	0.46876	5.048000	0.64238	0.823000	0.34589	0.533000	0.62120	CTC		0.657	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		A	36370049	T	A	36370049	3	1	8	1	0	0	0	0	1	0	0	0	778	1551	54	5	1849	5	APLP1	19	36370049	Missense_Mutation	SNP	T	TCGA-04-1346-01A-01W-0488-09	4599971	36370049	22758934	39	485											
FERMT1	55612	genome.wustl.edu	37	20	6057909	6057909	+	Missense_Mutation	SNP	C	C	T	rs558908354		TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr20:6057909C>T	ENST00000217289.4	-	15	2733	c.1945G>A	c.(1945-1947)Ggc>Agc	p.G649S	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.G392S	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	649	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)		p.G649S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AAAATGTAGCCGCCAATGTAC	0.498											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0.0014	5008	,	,		20102	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	20											89	75	80					20																	6057909		2203	4300	6503	6005909	SO:0001583	missense	55612			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1945G>A	20.37:g.6057909C>T	ENSP00000217289:p.Gly649Ser	631	6005909	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038161	0.93630	.	.	ENSG00000101311	ENST00000217289;ENST00000536936	T;T	0.47528	0.84;0.84	5.78	5.78	0.91487	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.79808	-0.1647	10	0.66056	D	0.02	-20.041	20.0027	0.97425	0.0:1.0:0.0:0.0	.	649	Q9BQL6	FERM1_HUMAN	S	649;392	ENSP00000217289:G649S;ENSP00000441063:G392S	ENSP00000217289:G649S	G	-	1	0	FERMT1	6005909	1.000000	0.71417	0.965000	0.40720	0.492000	0.33523	7.711000	0.84669	2.733000	0.93635	0.655000	0.94253	GGC		0.498	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		T	6057909	C	T	6057909	3	4	8	1	0	0	0	0	1	0	0	0	5817	652	23	1	92	1	FERMT1	20	6057909	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09		6057909	56967611	40	486											
PTPRT	11122	genome.wustl.edu	37	20	40727184	40727184	+	Silent	SNP	C	C	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr20:40727184C>T	ENST00000373187.1	-	27	3722	c.3723G>A	c.(3721-3723)aaG>aaA	p.K1241K	PTPRT_ENST00000373190.1_Silent_p.K1240K|PTPRT_ENST00000356100.2_Silent_p.K1250K|PTPRT_ENST00000373198.4_Silent_p.K1260K|PTPRT_ENST00000373201.1_Silent_p.K1231K|PTPRT_ENST00000373193.3_Silent_p.K1244K|PTPRT_ENST00000373184.1_Silent_p.K1251K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1241	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.K1263K(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGGCAGGCTGCTTGTGGCTCT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	20											61	66	65					20																	40727184		2091	4242	6333	40160598	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3723G>A	20.37:g.40727184C>T			40160598	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.542	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			T	40727184	C	T	40727184	2	4	8	1	0	0	0	0	0	0	0	1	12815	796	28	2		2	PTPRT	20	40727184	Silent	SNP	C	TCGA-04-1346-01A-01W-0488-09	34669275	40727184	22298336	41	487											
IFT52	51098	genome.wustl.edu	37	20	42271264	42271264	+	Splice_Site	SNP	G	G	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr20:42271264G>T	ENST00000373030.3	+	13	1396	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	IFT52_ENST00000373039.4_Splice_Site_p.Q422H|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	422					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.Q422H(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AATTGAACCAGGTACAGAGCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	20											100	86	91					20																	42271264		2203	4300	6503	41704678	SO:0001630	splice_region_variant	51098			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1266+1G>T	20.37:g.42271264G>T			41704678	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820725	0.71028	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.74	4.74	0.60224	.	0.052764	0.85682	D	0.000000	T	0.72811	0.3507	M	0.64170	1.965	0.58432	D	0.999995	D	0.55800	0.973	P	0.56823	0.807	T	0.75266	-0.3378	9	0.52906	T	0.07	-16.0694	16.8652	0.86027	0.0:0.0:1.0:0.0	.	422	Q9Y366	IFT52_HUMAN	H	422	.	ENSP00000362121:Q422H	Q	+	3	2	IFT52	41704678	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.474000	0.81024	2.353000	0.79882	0.555000	0.69702	CAG		0.468	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004	Missense_Mutation	T	42271264	G	T	42271264	5	4	8	1	0	0	0	0	0	0	1	0	7561	1014	35	3	1312	3	IFT52	20	42271264	Splice_Site	SNP	G	TCGA-04-1346-01A-01W-0488-09	1544080	42271264	20754256	42	488											
RNF160	26046	genome.wustl.edu	37	21	30303491	30303491	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr21:30303491G>T	ENST00000361371.5	-	29	5303	c.5224C>A	c.(5224-5226)Cat>Aat	p.H1742N	LTN1_ENST00000389194.2_Missense_Mutation_p.H1788N			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1742					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H1742N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAGGCTGAATGGAATTTTTTC	0.358																																																1	Substitution - Missense(1)	ovary(1)	21											114	114	114					21																	30303491		2203	4300	6503	29225362	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5224C>A	21.37:g.30303491G>T	ENSP00000354977:p.His1742Asn		29225362	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	24.9	4.585960	0.86748	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.65916	-0.18;-0.18	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91872	0.5508	10	0.87932	D	0	.	19.1642	0.93548	0.0:0.0:1.0:0.0	.	1742	O94822	LTN1_HUMAN	N	1788;1742	ENSP00000373846:H1788N;ENSP00000354977:H1742N	ENSP00000354977:H1742N	H	-	1	0	LTN1	29225362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.184000	0.94893	2.758000	0.94735	0.591000	0.81541	CAT		0.358	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		T	30303491	G	T	30303491	3	4	8	1	0	0	0	0	1	0	0	0	13458	1348	47	3	84	3	RNF160	21	30303491	Missense_Mutation	SNP	G	TCGA-04-1346-01A-01W-0488-09		30303491	17826404	43	489											
COL6A1	1291	genome.wustl.edu	37	21	47422537	47422537	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chr21:47422537C>G	ENST00000361866.3	+	33	2461	c.2347C>G	c.(2347-2349)Cgg>Ggg	p.R783G	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	783	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.R783G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		ATCCCAGGGCCGGCCCGGCCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	21											93	87	89					21																	47422537		2202	4300	6502	46246965	SO:0001583	missense	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2347C>G	21.37:g.47422537C>G	ENSP00000355180:p.Arg783Gly		46246965	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325984	0.24080	.	.	ENSG00000142156	ENST00000361866	D	0.90844	-2.74	4.94	2.91	0.33838	von Willebrand factor, type A (2);	0.129206	0.51477	D	0.000091	D	0.84538	0.5494	L	0.40543	1.245	0.09310	N	0.999992	P	0.43169	0.8	P	0.45071	0.468	T	0.73385	-0.3999	10	0.23891	T	0.37	-27.2515	3.7596	0.08599	0.2971:0.4852:0.0:0.2176	.	783	P12109	CO6A1_HUMAN	G	783	ENSP00000355180:R783G	ENSP00000355180:R783G	R	+	1	2	COL6A1	46246965	0.507000	0.26146	0.221000	0.23827	0.026000	0.11368	1.006000	0.29847	1.084000	0.41184	0.455000	0.32223	CGG		0.587	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		G	47422537	C	G	47422537	3	3	8	1	0	0	0	0	1	0	0	0	3699	643	23	3	2477	3	COL6A1	21	47422537	Missense_Mutation	SNP	C	TCGA-04-1346-01A-01W-0488-09	17119046	47422537	707358	44	490											
NR0B1	190	genome.wustl.edu	37	X	30326341	30326341	+	Silent	SNP	G	G	A			TCGA-04-1346-01A-01W-0488-09	TCGA-04-1346-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9f494df7-f64f-4935-ae42-eeb0b94624dc	83363a24-76e6-4784-821e-829e8eee9ab6	g.chrX:30326341G>A	ENST00000378970.4	-	1	1374	c.1140C>T	c.(1138-1140)taC>taT	p.Y380Y	NR0B1_ENST00000453287.1_Silent_p.Y380Y|NR0B1_ENST00000378963.1_Silent_p.Y85Y	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	380	Ligand-binding. {ECO:0000250}.		Y -> D (in XL-AHC). {ECO:0000269|PubMed:11788621}.		adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Y380Y(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TCCCCTTGAGGTAGGCGTACT	0.582											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	X											84	76	79					X																	30326341		2202	4300	6502	30236262	SO:0001819	synonymous_variant	190			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1140C>T	X.37:g.30326341G>A		816	30236262	Q96F69	Silent	SNP	ENST00000378970.4	37	CCDS14223.1																																																																																				0.582	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		A	30326341	G	A	30326341	2	1	8	1	0	0	0	0	0	0	0	1	10613	1256	44	2		2	NR0B1	23	30326341	Silent	SNP	G	TCGA-04-1346-01A-01W-0488-09		30326341	124944219	45	491											
MFN2	9927	genome.wustl.edu	37	1	12065962	12065962	+	Missense_Mutation	SNP	C	C	T	rs545454816		TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:12065962C>T	ENST00000235329.5	+	15	2012	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	MFN2_ENST00000444836.1_Missense_Mutation_p.R564W	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	564					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.R564W(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAACAGCCGTCGGGCCTTGAT	0.547													C|||	1	0.000199681	0	0	5008	,	,		20692	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											100	96	97					1																	12065962		2203	4300	6503	11988549	SO:0001583	missense	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1690C>T	1.37:g.12065962C>T	ENSP00000235329:p.Arg564Trp		11988549	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967477	0.92855	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	T;T	0.69926	-0.44;-0.44	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.80465	0.4628	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79042	-0.1965	10	0.37606	T	0.19	-31.8458	17.3618	0.87353	0.0:1.0:0.0:0.0	.	564	O95140	MFN2_HUMAN	W	564;564;262	ENSP00000416338:R564W;ENSP00000235329:R564W	ENSP00000235329:R564W	R	+	1	2	MFN2	11988549	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.424000	0.52764	2.656000	0.90262	0.561000	0.74099	CGG		0.547	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		T	12065962	C	T	12065962	3	4	9	1	0	0	0	0	1	0	0	0	9524	875	31	1	1740	1	MFN2	1	12065962	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		12065962	237184659	1	492											
SYTL1	84958	genome.wustl.edu	37	1	27677362	27677362	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:27677362C>A	ENST00000543823.1	+	10	1545	c.1083C>A	c.(1081-1083)aaC>aaA	p.N361K	SYTL1_ENST00000318074.5_Missense_Mutation_p.N349K|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	361	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)	p.N349K(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGTCGCAACATCTTTCTGG	0.667																																																1	Substitution - Missense(1)	ovary(1)	1											73	63	67					1																	27677362		2203	4300	6503	27549949	SO:0001583	missense	84958			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1083C>A	1.37:g.27677362C>A	ENSP00000440704:p.Asn361Lys		27549949	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	CCDS53286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.571536|4.571536	0.86542|0.86542	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269|ENST00000496001	T;T|.	0.09350|.	2.99;2.99|.	4.49|4.49	4.49|4.49	0.54785|0.54785	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70263|0.70263	0.3204|0.3204	L|L	0.60012|0.60012	1.86|1.86	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.993;0.999|.	T|T	0.69606|0.69606	-0.5100|-0.5100	10|5	0.87932|.	D|.	0|.	-31.6098|-31.6098	16.1755|16.1755	0.81847|0.81847	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	361;349|.	Q8IYJ3;Q8IYJ3-2|.	SYTL1_HUMAN;.|.	K|K	349;361;114|209	ENSP00000316464:N349K;ENSP00000440704:N361K|.	ENSP00000316464:N349K|.	N|T	+|+	3|2	2|0	SYTL1|SYTL1	27549949|27549949	0.963000|0.963000	0.33076|0.33076	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	2.283000|2.283000	0.43470|0.43470	2.337000|2.337000	0.79520|0.79520	0.456000|0.456000	0.33151|0.33151	AAC|ACA		0.667	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		A	27677362	C	A	27677362	3	1	9	1	0	0	0	0	1	0	0	0	15482	477	17	3	1085	3	SYTL1	1	27677362	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	15611400	27677362	221573259	2	493											
EYA3	2140	genome.wustl.edu	37	1	28362081	28362081	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:28362081G>T	ENST00000373871.3	-	6	575	c.335C>A	c.(334-336)aCc>aAc	p.T112N	EYA3_ENST00000373863.3_Missense_Mutation_p.T112N|EYA3_ENST00000545175.1_Missense_Mutation_p.T59N|EYA3_ENST00000540618.1_Missense_Mutation_p.T112N|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Intron	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	112					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T112I(1)|p.T112N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ATACGTTTGGGTTGCCTGAGG	0.433																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	1											273	263	266					1																	28362081		2203	4300	6503	28234668	SO:0001583	missense	2140			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.335C>A	1.37:g.28362081G>T	ENSP00000362978:p.Thr112Asn		28234668	A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	CCDS316.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576701	0.45902	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D	0.92149	-2.98;-2.92;-2.94;-2.82	5.59	4.66	0.58398	.	0.264886	0.44285	D	0.000472	D	0.86356	0.5913	L	0.27053	0.805	0.80722	D	1	B;P;B	0.37276	0.253;0.589;0.216	B;B;B	0.33960	0.06;0.173;0.086	D	0.85046	0.0926	10	0.37606	T	0.19	-20.4441	16.3576	0.83241	0.0:0.1323:0.8677:0.0	.	112;112;112	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	N	112;112;59;112	ENSP00000362978:T112N;ENSP00000442558:T112N;ENSP00000442280:T59N;ENSP00000362970:T112N	ENSP00000362970:T112N	T	-	2	0	EYA3	28234668	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.662000	0.54510	1.324000	0.45282	0.655000	0.94253	ACC		0.433	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		T	28362081	G	T	28362081	3	4	9	1	0	0	0	0	1	0	0	0	5330	1261	44	3	1438	3	EYA3	1	28362081	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	684719	28362081	220888540	3	494											
SESN2	83667	genome.wustl.edu	37	1	28601440	28601440	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:28601440C>T	ENST00000253063.3	+	8	1446	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	375					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y375Y(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCACCTACAATACCATCG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	1											116	94	101					1																	28601440		2203	4300	6503	28474027	SO:0001819	synonymous_variant	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1125C>T	1.37:g.28601440C>T			28474027	Q5T7D0|Q96SI5	Silent	SNP	ENST00000253063.3	37	CCDS321.1																																																																																				0.562	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			T	28601440	C	T	28601440	2	4	9	1	0	0	0	0	0	0	0	1	14128	489	17	2		2	SESN2	1	28601440	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	239359	28601440	220649181	4	495											
DNALI1	7802	genome.wustl.edu	37	1	38027251	38027251	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:38027251A>G	ENST00000296218.7	+	4	567	c.557A>G	c.(556-558)tAc>tGc	p.Y186C	DNALI1_ENST00000497858.1_3'UTR|DNALI1_ENST00000541606.1_Missense_Mutation_p.Y38C	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	164					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)	p.Y186C(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCGCTGCCTACCAGACCCTG	0.592											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											135	94	108					1																	38027251		2203	4300	6503	37799838	SO:0001583	missense	7802			AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.557A>G	1.37:g.38027251A>G	ENSP00000296218:p.Tyr186Cys	875	37799838	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	CCDS420.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522623	0.85600	.	.	ENSG00000163879	ENST00000296218;ENST00000541606	T	0.66280	-0.2	5.2	5.2	0.72013	.	0.054218	0.85682	D	0.000000	T	0.81837	0.4907	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.85923	0.1447	10	0.66056	D	0.02	-6.8872	15.3682	0.74541	1.0:0.0:0.0:0.0	.	164	O14645	IDLC_HUMAN	C	186;38	ENSP00000296218:Y186C	ENSP00000296218:Y186C	Y	+	2	0	DNALI1	37799838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.251000	0.78297	2.082000	0.62665	0.533000	0.62120	TAC		0.592	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		G	38027251	A	G	38027251	3	3	9	1	0	0	0	0	1	0	0	0	4659	391	14	4	571	4	DNALI1	1	38027251	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09	9425811	38027251	211223370	5	496											
BSND	7809	genome.wustl.edu	37	1	55472682	55472682	+	Silent	SNP	G	G	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:55472682G>A	ENST00000371265.4	+	3	539	c.285G>A	c.(283-285)caG>caA	p.Q95Q		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	95					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.Q95Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCAGTCCCCAGCCGCCCTATG	0.582																																					Ovarian(191;1657 2078 22894 42033 48899)											1	Substitution - coding silent(1)	ovary(1)	1											26	28	27					1																	55472682		2201	4297	6498	55245270	SO:0001819	synonymous_variant	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.285G>A	1.37:g.55472682G>A			55245270	Q6NT28	Silent	SNP	ENST00000371265.4	37	CCDS602.1																																																																																				0.582	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		A	55472682	G	A	55472682	2	1	9	1	0	0	0	0	0	0	0	1	1531	962	34	2		2	BSND	1	55472682	Silent	SNP	G	TCGA-04-1347-01A-01W-0488-09	17445431	55472682	193777939	6	497											
FGGY	55277	genome.wustl.edu	37	1	60228249	60228249	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:60228249A>G	ENST00000303721.7	+	16	1823	c.1649A>G	c.(1648-1650)gAt>gGt	p.D550G	FGGY_ENST00000371212.1_Missense_Mutation_p.D462G|RP4-782L23.2_ENST00000443012.1_RNA|FGGY_ENST00000371210.1_Missense_Mutation_p.D251G|FGGY_ENST00000371218.4_Missense_Mutation_p.D574G	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	550					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.D438G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					ATCATGAATGATGACTGAACA	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											72	67	68					1																	60228249		2203	4300	6503	60000837	SO:0001583	missense	55277				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1649A>G	1.37:g.60228249A>G	ENSP00000305922:p.Asp550Gly		60000837	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	CCDS611.2	.	.	.	.	.	.	.	.	.	.	A	8.635	0.894488	0.17613	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	T;T;T;T	0.47869	2.78;2.82;1.8;0.83	5.16	-0.433	0.12287	.	0.769649	0.12381	N	0.473939	T	0.26195	0.0639	N	0.25286	0.73	0.20074	N	0.999934	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.16305	-1.0407	9	.	.	.	-0.8673	4.0206	0.09664	0.4325:0.1799:0.3876:0.0	.	574;462;550	Q96C11-3;B1AK94;Q96C11	.;.;FGGY_HUMAN	G	574;550;462;251	ENSP00000360262:D574G;ENSP00000305922:D550G;ENSP00000360256:D462G;ENSP00000360254:D251G	.	D	+	2	0	FGGY	60000837	0.018000	0.18449	0.130000	0.21974	0.020000	0.10135	-0.119000	0.10676	0.044000	0.15775	-0.479000	0.04858	GAT		0.403	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		G	60228249	A	G	60228249	3	3	9	1	0	0	0	0	1	0	0	0	5871	333	12	4	1783	4	FGGY	1	60228249	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09	4755567	60228249	189022372	7	498											
PTGFR	5737	genome.wustl.edu	37	1	79002109	79002109	+	Nonsense_Mutation	SNP	G	G	T	rs267598731		TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:79002109G>T	ENST00000370757.3	+	3	1054	c.817G>T	c.(817-819)Gga>Tga	p.G273*	PTGFR_ENST00000370758.1_Nonsense_Mutation_p.G273*|PTGFR_ENST00000370756.3_Missense_Mutation_p.L296F	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	273					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.G273*(1)|p.L296F(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GGCCAACATTGGAATAAATGG	0.343																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(2)	1											91	97	95					1																	79002109		2203	4300	6503	78774697	SO:0001587	stop_gained	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.817G>T	1.37:g.79002109G>T	ENSP00000359793:p.Gly273*		78774697	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Nonsense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.873334|6.873334	0.97901|0.97901	.|.	.|.	ENSG00000122420|ENSG00000122420	ENST00000370758;ENST00000370757|ENST00000370756	.|T	.|0.78481	.|-1.18	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.673359|.	0.15290|.	N|.	0.270216|.	.|T	.|0.75845	.|0.3905	.|.	.|.	.|.	0.30023|0.30023	N|N	0.814174|0.814174	.|P	.|0.50369	.|0.934	.|P	.|0.47864	.|0.559	.|T	.|0.75470	.|-0.3306	.|8	0.33141|0.87932	T|D	0.24|0	-7.725|-7.725	19.8452|19.8452	0.96705|0.96705	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|296	.|P43088-2	.|.	X|F	273|296	.|ENSP00000359792:L296F	ENSP00000359793:G273X|ENSP00000359792:L296F	G|L	+|+	1|3	0|2	PTGFR|PTGFR	78774697|78774697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.306000|5.306000	0.65756|0.65756	2.771000|2.771000	0.95319|0.95319	0.561000|0.561000	0.74099|0.74099	GGA|TTG		0.343	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		T	79002109	G	T	79002109	4	4	9	1	0	0	0	0	0	1	0	0	12752	1349	47	3	898	3	PTGFR	1	79002109	Nonsense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	18773860	79002109	170248512	8	499											
BCAR3	8412	genome.wustl.edu	37	1	94054874	94054874	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:94054874G>C	ENST00000370244.1	-	7	877	c.589C>G	c.(589-591)Cag>Gag	p.Q197E	BCAR3_ENST00000260502.6_Missense_Mutation_p.Q197E|RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.Q106E|BCAR3_ENST00000370243.1_Missense_Mutation_p.Q197E|RP5-1033H22.2_ENST00000431770.1_RNA|RP5-1033H22.2_ENST00000417401.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	197	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.Q197E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTGAAGTGCTGAGCGAGGTTC	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											51	52	52					1																	94054874		2203	4300	6503	93827462	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.589C>G	1.37:g.94054874G>C	ENSP00000359264:p.Gln197Glu		93827462	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695257	0.68386	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.96	4.96	0.65561	SH2 motif (4);	0.050365	0.85682	D	0.000000	D	0.83142	0.5190	L	0.41027	1.25	0.80722	D	1	P;P	0.42993	0.797;0.737	B;B	0.42462	0.388;0.338	D	0.85115	0.0965	10	0.49607	T	0.09	-0.0522	18.5655	0.91115	0.0:0.0:1.0:0.0	.	197;106	O75815;Q5TEW3	BCAR3_HUMAN;.	E	106;197;197;197	ENSP00000359267:Q106E;ENSP00000260502:Q197E;ENSP00000359264:Q197E;ENSP00000359263:Q197E	ENSP00000260502:Q197E	Q	-	1	0	BCAR3	93827462	1.000000	0.71417	0.994000	0.49952	0.806000	0.45545	9.354000	0.97083	2.468000	0.83385	0.561000	0.74099	CAG		0.557	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			C	94054874	G	C	94054874	3	2	9	1	0	0	0	0	1	0	0	0	1349	1299	45	3	1920	3	BCAR3	1	94054874	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	15052765	94054874	155195747	9	500											
AMPD1	270	genome.wustl.edu	37	1	115218313	115218313	+	Splice_Site	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:115218313A>G	ENST00000520113.2	-	12	1631	c.1616T>C	c.(1615-1617)aTc>aCc	p.I539T	AMPD1_ENST00000369538.3_Splice_Site_p.I535T|AMPD1_ENST00000353928.6_Splice_Site_p.I506T			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	539					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.I506T(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAAGCCAGTGATCTGTTAGGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											125	119	121					1																	115218313		2203	4300	6503	115019836	SO:0001630	splice_region_variant	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1615-1T>C	1.37:g.115218313A>G			115019836	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.396414	0.83011	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82344	-1.6;-1.6;-1.6	5.68	5.68	0.88126	Adenosine/AMP deaminase (1);	0.046888	0.85682	D	0.000000	D	0.86197	0.5875	M	0.79926	2.475	0.80722	D	1	P;P	0.48834	0.916;0.866	P;P	0.52066	0.622;0.689	D	0.88643	0.3177	10	0.87932	D	0	-22.7041	15.938	0.79729	1.0:0.0:0.0:0.0	.	535;506	Q5TF02;P23109	.;AMPD1_HUMAN	T	539;535;506	ENSP00000430075:I539T;ENSP00000358551:I535T;ENSP00000316520:I506T	ENSP00000316520:I506T	I	-	2	0	AMPD1	115019836	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.339000	0.96797	2.167000	0.68274	0.459000	0.35465	ATC		0.488	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		Missense_Mutation	G	115218313	A	G	115218313	5	3	9	1	0	0	0	0	0	0	1	0	585	347	12	4	746	4	AMPD1	1	115218313	Splice_Site	SNP	A	TCGA-04-1347-01A-01W-0488-09	21163439	115218313	134032308	10	501											
DCST2	127579	genome.wustl.edu	37	1	155002568	155002568	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:155002568A>C	ENST00000368424.3	-	7	1227	c.1169T>G	c.(1168-1170)aTc>aGc	p.I390S	DCST2_ENST00000295536.5_Missense_Mutation_p.I390S	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	390						integral component of membrane (GO:0016021)		p.I390S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCCGGTGGGATGTAGCGCCT	0.682																																																1	Substitution - Missense(1)	ovary(1)	1											60	61	61					1																	155002568		2203	4300	6503	153269192	SO:0001583	missense	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1169T>G	1.37:g.155002568A>C	ENSP00000357409:p.Ile390Ser		153269192	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	15.53	2.862223	0.51482	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.37235	1.21;1.21	4.68	4.68	0.58851	Dendritic cell-specific transmembrane protein-like (1);	0.154448	0.41712	D	0.000824	T	0.47116	0.1428	M	0.76328	2.33	0.37658	D	0.922655	D	0.62365	0.991	D	0.64877	0.93	T	0.54886	-0.8226	10	0.66056	D	0.02	-32.1833	11.751	0.51849	1.0:0.0:0.0:0.0	.	390	Q5T1A1	DCST2_HUMAN	S	390	ENSP00000357409:I390S;ENSP00000295536:I390S	ENSP00000295536:I390S	I	-	2	0	DCST2	153269192	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	5.171000	0.64996	1.964000	0.57103	0.533000	0.62120	ATC		0.682	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		C	155002568	A	C	155002568	3	2	9	1	0	0	0	0	1	0	0	0	4303	333	12	5	1188	5	DCST2	1	155002568	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09	39784255	155002568	94248053	11	502											
ARHGEF11	9826	genome.wustl.edu	37	1	156926338	156926338	+	Silent	SNP	G	G	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:156926338G>A	ENST00000361409.2	-	18	2167	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	ARHGEF11_ENST00000368194.3_Silent_p.A515A	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	475	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A515A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGTATTGAGGGCGAAGTCCA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	1											156	132	141					1																	156926338		2203	4300	6503	155192962	SO:0001819	synonymous_variant	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1425C>T	1.37:g.156926338G>A			155192962	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																				0.532	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		A	156926338	G	A	156926338	2	1	9	1	0	0	0	0	0	0	0	1	896	1219	43	2		2	ARHGEF11	1	156926338	Silent	SNP	G	TCGA-04-1347-01A-01W-0488-09	1923770	156926338	92324283	12	503											
FCRL1	115350	genome.wustl.edu	37	1	157771886	157771886	+	Silent	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:157771886A>G	ENST00000368176.3	-	5	772	c.705T>C	c.(703-705)tcT>tcC	p.S235S	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.S235S|FCRL1_ENST00000358292.3_Silent_p.S235S	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	235	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S235S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGATCGGAGGAGAGCCTCTCA	0.612																																					GBM(54;482 1003 11223 30131 35730)											1	Substitution - coding silent(1)	ovary(1)	1											42	43	43					1																	157771886		2203	4300	6503	156038510	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.705T>C	1.37:g.157771886A>G			156038510	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	CCDS1170.1																																																																																				0.612	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		G	157771886	A	G	157771886	2	3	9	1	0	0	0	0	0	0	0	1	5794	291	11	4		4	FCRL1	1	157771886	Silent	SNP	A	TCGA-04-1347-01A-01W-0488-09	845548	157771886	91478735	13	504											
OR10X1	128367	genome.wustl.edu	37	1	158549529	158549529	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:158549529G>T	ENST00000368150.1	-	1	160	c.161C>A	c.(160-162)aCc>aAc	p.T54N		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T54N(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACCTGCAAGGGTGAGAAGGTA	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											125	123	124					1																	158549529		2203	4300	6503	156816153	SO:0001583	missense	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.161C>A	1.37:g.158549529G>T	ENSP00000357132:p.Thr54Asn		156816153	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844778	0.71603	.	.	ENSG00000186400	ENST00000368150	T	0.01438	4.89	5.13	4.2	0.49525	.	0.000000	0.50627	D	0.000119	T	0.02649	0.0080	M	0.78456	2.415	0.29912	N	0.823496	D	0.64830	0.994	P	0.58130	0.833	T	0.06679	-1.0813	10	0.72032	D	0.01	.	9.4854	0.38926	0.1642:0.0:0.8358:0.0	.	54	Q8NGY0	O10X1_HUMAN	N	54	ENSP00000357132:T54N	ENSP00000357132:T54N	T	-	2	0	OR10X1	156816153	0.979000	0.34478	0.978000	0.43139	0.972000	0.66771	1.738000	0.38207	2.648000	0.89879	0.650000	0.86243	ACC		0.453	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		T	158549529	G	T	158549529	3	4	9	1	0	0	0	0	1	0	0	0	10922	1261	44	3	814	3	OR10X1	1	158549529	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	777643	158549529	90701092	14	505											
HMCN1	83872	genome.wustl.edu	37	1	186151415	186151415	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:186151415C>T	ENST00000271588.4	+	105	16639	c.16410C>T	c.(16408-16410)tgC>tgT	p.C5470C	HMCN1_ENST00000367492.2_Silent_p.C5353C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5470	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.C5470C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAGACATGCCAAGGTGAGA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	1											106	99	101					1																	186151415		2203	4300	6503	184418038	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16410C>T	1.37:g.186151415C>T			184418038	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186151415	C	T	186151415	2	4	9	1	0	0	0	0	0	0	0	1	7220	747	26	2		2	HMCN1	1	186151415	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	27601886	186151415	63099206	15	506											
ASPM	259266	genome.wustl.edu	37	1	197070656	197070656	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:197070656C>T	ENST00000367409.4	-	18	7981	c.7725G>A	c.(7723-7725)aaG>aaA	p.K2575K	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2575					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.K2575K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCCACTGAAGCTTTTGGTAGA	0.323																																																1	Substitution - coding silent(1)	ovary(1)	1											55	50	52					1																	197070656		2202	4297	6499	195337279	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7725G>A	1.37:g.197070656C>T			195337279	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																				0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		T	197070656	C	T	197070656	2	4	9	1	0	0	0	0	0	0	0	1	1056	796	28	2		2	ASPM	1	197070656	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	10919241	197070656	52179965	16	507											
RYR2	6262	genome.wustl.edu	37	1	237863534	237863534	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	A	T	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr1:237863534T>A	ENST00000366574.2	+	65	9451	c.9134T>A	c.(9133-9135)gTg>gAg	p.V3045E	RYR2_ENST00000542537.1_Missense_Mutation_p.V3029E|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V3043E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3045					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V3043E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTAGGACAGTGATGAAGACT	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											26	25	26					1																	237863534		1888	4104	5992	235930157	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9134T>A	1.37:g.237863534T>A	ENSP00000355533:p.Val3045Glu		235930157	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370127	0.82573	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000540213	T;D;T	0.97529	-0.51;-4.42;-0.59	5.19	5.19	0.71726	.	0.000000	0.52532	U	0.000078	D	0.96153	0.8746	L	0.43701	1.375	0.80722	D	1	P	0.48503	0.911	P	0.49226	0.603	D	0.96719	0.9531	10	0.87932	D	0	.	15.3474	0.74350	0.0:0.0:0.0:1.0	.	3045	Q92736	RYR2_HUMAN	E	3045;3043;3029;40	ENSP00000355533:V3045E;ENSP00000353174:V3043E;ENSP00000443798:V3029E	ENSP00000353174:V3043E	V	+	2	0	RYR2	235930157	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.997000	0.88414	2.074000	0.62210	0.460000	0.39030	GTG		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237863534	T	A	237863534	3	1	9	1	0	0	0	0	1	0	0	0	13772	1696	59	5	9392	5	RYR2	1	237863534	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	40792878	237863534	11387087	17	508											
TPO	7173	genome.wustl.edu	37	2	1491750	1491750	+	Missense_Mutation	SNP	C	C	A	rs368643878		TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:1491750C>A	ENST00000345913.4	+	10	1846	c.1755C>A	c.(1753-1755)gaC>gaA	p.D585E	TPO_ENST00000346956.3_Missense_Mutation_p.D585E|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.D412E|TPO_ENST00000382198.1_Missense_Mutation_p.D412E|TPO_ENST00000329066.4_Missense_Mutation_p.D585E|TPO_ENST00000382201.3_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.D585E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	585					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.D585E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGGCCGGGACCACGGGCTGC	0.577													C|||	1	0.000199681	0	0	5008	,	,		16320	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2						C	GLU/ASP,GLU/ASP,,,GLU/ASP,GLU/ASP	0,4406		0,0,2203	85	82	83		1755,1755,,,1755,1236	2.5	1	2		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,intron,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	45,45,,,45,45	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,,probably-damaging,probably-damaging	585/934,585/934,,,585/890,412/761	1491750	1,13005	2203	4300	6503	1470757	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1755C>A	2.37:g.1491750C>A	ENSP00000318820:p.Asp585Glu		1470757	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450461	0.63290	0.0	1.16E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	4.78	2.53	0.30540	.	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.992;1.0	T	0.78383	-0.2225	10	0.87932	D	0	-51.3254	3.7625	0.08609	0.1898:0.5171:0.0:0.2932	.	585;412;585	P07202-4;P07202-5;P07202	.;.;PERT_HUMAN	E	585;585;585;412;585;412;514	ENSP00000337263:D585E;ENSP00000318820:D585E;ENSP00000263886:D585E;ENSP00000332044:D412E;ENSP00000329869:D585E;ENSP00000371633:D412E;ENSP00000405788:D514E	ENSP00000329869:D585E	D	+	3	2	TPO	1470757	0.928000	0.31464	1.000000	0.80357	0.970000	0.65996	0.032000	0.13732	0.961000	0.38030	0.591000	0.81541	GAC		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1491750	C	A	1491750	3	1	9	1	0	0	0	0	1	0	0	0	16410	506	18	3	1789	3	TPO	2	1491750	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		1491750	241707623	18	509											
CCDC88A	55704	genome.wustl.edu	37	2	55536106	55536106	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:55536106T>C	ENST00000436346.1	-	25	5067	c.4226A>G	c.(4225-4227)gAt>gGt	p.D1409G	CCDC88A_ENST00000422883.2_Missense_Mutation_p.D32G|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1409G|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1408G|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1408G|AC012358.8_ENST00000366287.4_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1409					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.D1409G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCGATTAATATCTTTCTTAGA	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											90	89	89					2																	55536106		2203	4300	6503	55389610	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4226A>G	2.37:g.55536106T>C	ENSP00000410608:p.Asp1409Gly		55389610	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.64|16.64	3.180626|3.180626	0.57800|0.57800	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000444458	T;T;T;T;T;T|.	0.45276|.	2.47;2.7;2.7;0.9;2.48;1.43|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.000000|.	0.49305|.	U|.	0.000143|.	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.44542|0.44542	1.39|1.39	0.34414|0.34414	D|D	0.696689|0.696689	B;P;B;P;B;P;P|.	0.48162|.	0.325;0.493;0.361;0.906;0.177;0.493;0.493|.	B;B;B;B;B;B;B|.	0.43386|.	0.275;0.234;0.118;0.418;0.141;0.234;0.234|.	T|T	0.64976|0.64976	-0.6280|-0.6280	10|5	0.66056|.	D|.	0.02|.	-12.3101|-12.3101	14.5506|14.5506	0.68065|0.68065	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1408;1409;1354;32;1409;1408;1408|.	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;.;.;GRDN_HUMAN;.;.|.	G|V	1408;1409;1409;32;454;1408;584|34	ENSP00000338728:D1408G;ENSP00000263630:D1409G;ENSP00000410608:D1409G;ENSP00000390012:D454G;ENSP00000404431:D1408G;ENSP00000405080:D584G|.	ENSP00000263630:D1409G|.	D|I	-|-	2|1	0|0	CCDC88A|CCDC88A	55389610|55389610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.828000|5.828000	0.69307|0.69307	1.890000|1.890000	0.54733|0.54733	0.482000|0.482000	0.46254|0.46254	GAT|ATA		0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		C	55536106	T	C	55536106	3	2	9	1	0	0	0	0	1	0	0	0	2863	1435	50	4	1421	4	CCDC88A	2	55536106	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	54044356	55536106	187663267	19	510											
CCT4	10575	genome.wustl.edu	37	2	62099658	62099658	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:62099658C>T	ENST00000394440.3	-	11	1487	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	CCT4_ENST00000544185.1_Silent_p.V247V|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Silent_p.V367V|CCT4_ENST00000538252.1_Silent_p.V341V|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	397					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.V397V(1)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CTTCTTCAATCACCAGTTTGT	0.368																																																1	Substitution - coding silent(1)	ovary(1)	2											80	75	77					2																	62099658		2203	4300	6503	61953162	SO:0001819	synonymous_variant	10575				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1191G>A	2.37:g.62099658C>T			61953162	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Silent	SNP	ENST00000394440.3	37	CCDS33206.1																																																																																				0.368	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			T	62099658	C	T	62099658	2	4	9	1	0	0	0	0	0	0	0	1	2955	813	29	2		2	CCT4	2	62099658	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	6563552	62099658	181099715	20	511											
REV1	51455	genome.wustl.edu	37	2	100055283	100055283	+	Silent	SNP	C	C	T	rs368812454		TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:100055283C>T	ENST00000258428.3	-	6	1221	c.993G>A	c.(991-993)acG>acA	p.T331T	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.T331T	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	331					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.T331T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTGCTAAACGTAGATACTG	0.413								Direct reversal of damage																																								1	Substitution - coding silent(1)	ovary(1)	2											189	177	181					2																	100055283		2203	4300	6503	99421715	SO:0001819	synonymous_variant	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.993G>A	2.37:g.100055283C>T			99421715	O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	CCDS2045.1																																																																																				0.413	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		T	100055283	C	T	100055283	2	4	9	1	0	0	0	0	0	0	0	1	13242	523	19	1		1	REV1	2	100055283	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	37955625	100055283	143144090	21	512											
TBC1D8	11138	genome.wustl.edu	37	2	101654923	101654923	+	Splice_Site	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:101654923C>A	ENST00000376840.4	-	7	1229	c.1230G>T	c.(1228-1230)atG>atT	p.M410I	TBC1D8_ENST00000409318.1_Splice_Site_p.M425I			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	410					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.M425I(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GGGACCATACCATGTCATCAT	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											150	153	152					2																	101654923		2137	4246	6383	101021355	SO:0001630	splice_region_variant	11138			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1230+1G>T	2.37:g.101654923C>A			101021355	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	6.466	0.454083	0.12283	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.02890	4.12;4.12	5.03	5.03	0.67393	.	0.929476	0.08962	N	0.868580	T	0.02156	0.0067	N	0.02916	-0.46	0.42923	D	0.994299	B;B	0.12630	0.006;0.0	B;B	0.11329	0.006;0.001	T	0.57997	-0.7714	9	.	.	.	-8.0325	18.3517	0.90340	0.0:1.0:0.0:0.0	.	425;410	B7Z6L4;O95759	.;TBCD8_HUMAN	I	410;425	ENSP00000366036:M410I;ENSP00000386856:M425I	.	M	-	3	0	TBC1D8	101021355	0.997000	0.39634	0.685000	0.30070	0.130000	0.20726	3.386000	0.52492	2.324000	0.78689	0.655000	0.94253	ATG		0.597	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	Missense_Mutation	A	101654923	C	A	101654923	5	1	9	1	0	0	0	0	0	0	1	0	15625	608	21	3	2248	3	TBC1D8	2	101654923	Splice_Site	SNP	C	TCGA-04-1347-01A-01W-0488-09	1599640	101654923	141544450	22	513											
IL1F7	27178	genome.wustl.edu	37	2	113675240	113675240	+	Silent	SNP	G	G	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:113675240G>A	ENST00000263326.3	+	4	336	c.294G>A	c.(292-294)ttG>ttA	p.L98L	IL37_ENST00000352179.3_Silent_p.L77L|IL37_ENST00000349806.3_Silent_p.L37L|IL37_ENST00000353225.3_Silent_p.L58L|IL37_ENST00000311328.2_Silent_p.L72L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	98					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)	p.L98L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CCTCATCCTTGAGCTCAGCCT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	2											220	227	225					2																	113675240		2203	4300	6503	113391711	SO:0001819	synonymous_variant	27178			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"Interleukins and interleukin receptors"	15563	protein-coding gene	gene with protein product	"interleukin 1, zeta", "interleukin-1 homolog 4", "interleukin-1-related protein"	605510	"interleukin 1 family, member 7 (zeta)"	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.294G>A	2.37:g.113675240G>A			113391711	B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Silent	SNP	ENST00000263326.3	37	CCDS2103.1																																																																																				0.488	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		A	113675240	G	A	113675240	2	1	9	1	0	0	0	0	0	0	0	1	7655	1281	45	2		2	IL1F7	2	113675240	Silent	SNP	G	TCGA-04-1347-01A-01W-0488-09	12020317	113675240	129524133	23	514											
LCT	3938	genome.wustl.edu	37	2	136567006	136567006	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:136567006C>A	ENST00000264162.2	-	8	2921	c.2911G>T	c.(2911-2913)Gtg>Ttg	p.V971L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	971	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.V971L(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TAGGCCTTCACCTTCAAAGCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											89	91	90					2																	136567006		2203	4300	6503	136283476	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2911G>T	2.37:g.136567006C>A	ENSP00000264162:p.Val971Leu		136283476	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897276	0.72639	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.48836	0.8	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.101330	0.64402	D	0.000002	T	0.57417	0.2052	N	0.22421	0.69	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	T	0.56565	-0.7958	10	0.44086	T	0.13	-21.7281	20.0139	0.97470	0.0:1.0:0.0:0.0	.	971	P09848	LPH_HUMAN	L	971;403	ENSP00000264162:V971L	ENSP00000264162:V971L	V	-	1	0	LCT	136283476	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.818000	0.86416	2.724000	0.93272	0.563000	0.77884	GTG		0.498	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136567006	C	A	136567006	3	1	9	1	0	0	0	0	1	0	0	0	8693	507	18	3	2912	3	LCT	2	136567006	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	22891766	136567006	106632367	24	515											
PLEKHA3	65977	genome.wustl.edu	37	2	179350382	179350382	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:179350382T>A	ENST00000234453.5	+	2	457	c.55T>A	c.(55-57)Tgg>Agg	p.W19R	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	19	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)	p.W19R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GCAGCCTCGTTGGTTTGTTTT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											111	110	110					2																	179350382		2203	4300	6503	179058628	SO:0001583	missense	65977			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.55T>A	2.37:g.179350382T>A	ENSP00000234453:p.Trp19Arg		179058628	Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370971	0.82573	.	.	ENSG00000116095	ENST00000234453	T	0.76968	-1.06	5.15	5.15	0.70609	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92198	0.7526	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94848	0.8011	10	0.87932	D	0	-13.3514	14.9801	0.71306	0.0:0.0:0.0:1.0	.	19	Q9HB20	PKHA3_HUMAN	R	19	ENSP00000234453:W19R	ENSP00000234453:W19R	W	+	1	0	PLEKHA3	179058628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	1.928000	0.55862	0.460000	0.39030	TGG		0.363	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		A	179350382	T	A	179350382	3	1	9	1	0	0	0	0	1	0	0	0	12057	1812	63	5	61	5	PLEKHA3	2	179350382	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	42783376	179350382	63848991	25	516											
MPP4	58538	genome.wustl.edu	37	2	202550728	202550728	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:202550728G>C	ENST00000409474.3	-	6	613	c.406C>G	c.(406-408)Ccc>Gcc	p.P136A	MPP4_ENST00000359962.5_Missense_Mutation_p.P136A|MPP4_ENST00000409143.1_Missense_Mutation_p.P109A|MPP4_ENST00000396886.3_Intron|MPP4_ENST00000428900.2_Missense_Mutation_p.P136A|MPP4_ENST00000447335.2_Missense_Mutation_p.P136A|MPP4_ENST00000315506.7_Missense_Mutation_p.P136A	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	136	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.P136A(1)		kidney(1)|lung(11)	12						GGGAGAAGGGGTTCAAAATCT	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											139	132	134					2																	202550728		1943	4150	6093	202258973	SO:0001583	missense	58538			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.406C>G	2.37:g.202550728G>C	ENSP00000387278:p.Pro136Ala		202258973	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616144	0.87359	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000359962;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.07216	3.25;3.21;3.25;3.24;3.32;3.25	5.4	5.4	0.78164	L27, C-terminal (1);PDZ/DHR/GLGF (1);L27 (2);	0.060948	0.64402	N	0.000002	T	0.31979	0.0814	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.02574	-1.1139	10	0.87932	D	0	.	19.1748	0.93600	0.0:0.0:1.0:0.0	.	109;136;136;136;136;136	F6Q0Y6;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8	.;.;.;.;.;MPP4_HUMAN	A	136;136;136;136;109;136	ENSP00000387278:P136A;ENSP00000319363:P136A;ENSP00000353047:P136A;ENSP00000416781:P136A;ENSP00000387293:P109A;ENSP00000406160:P136A	ENSP00000319363:P136A	P	-	1	0	MPP4	202258973	1.000000	0.71417	0.899000	0.35326	0.944000	0.59088	9.402000	0.97298	2.542000	0.85734	0.655000	0.94253	CCC		0.488	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			C	202550728	G	C	202550728	3	2	9	1	0	0	0	0	1	0	0	0	9736	1261	44	3	1575	3	MPP4	2	202550728	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	23200346	202550728	40648645	26	517											
ABCA12	26154	genome.wustl.edu	37	2	215840695	215840695	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr2:215840695A>G	ENST00000272895.7	-	34	5414	c.5195T>C	c.(5194-5196)aTa>aCa	p.I1732T	ABCA12_ENST00000389661.4_Missense_Mutation_p.I1414T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1732					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.I1732T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTGATGAGTATAGCCATGAT	0.483																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	ovary(1)	2											151	133	139					2																	215840695		2203	4300	6503	215548940	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5195T>C	2.37:g.215840695A>G	ENSP00000272895:p.Ile1732Thr		215548940	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494154	0.85069	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95588	-3.75;-3.75	5.87	5.87	0.94306	.	0.158435	0.44285	D	0.000468	D	0.93138	0.7815	N	0.24115	0.695	0.80722	D	1	P;P	0.52842	0.956;0.597	P;P	0.47528	0.478;0.549	D	0.94268	0.7508	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	1732;1414	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1732;1414	ENSP00000272895:I1732T;ENSP00000374312:I1414T	ENSP00000272895:I1732T	I	-	2	0	ABCA12	215548940	0.997000	0.39634	0.563000	0.28383	0.900000	0.52787	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ATA		0.483	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		G	215840695	A	G	215840695	3	3	9	1	0	0	0	0	1	0	0	0	30	449	16	4	2672	4	ABCA12	2	215840695	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09	13289967	215840695	27358678	27	518											
OR5K2	402135	genome.wustl.edu	37	3	98217146	98217146	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr3:98217146G>A	ENST00000427338.1	+	1	699	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V208I(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCAGTTCAAGTCTTTACCAT	0.378																																																1	Substitution - Missense(1)	ovary(1)	3											188	184	185					3																	98217146		2203	4298	6501	99699836	SO:0001583	missense	402135			AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"GPCR / Class A : Olfactory receptors"	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.622G>A	3.37:g.98217146G>A	ENSP00000393889:p.Val208Ile		99699836	B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.464119	0.00171	.	.	ENSG00000231861	ENST00000427338	T	0.37411	1.2	2.82	-0.209	0.13180	GPCR, rhodopsin-like superfamily (1);	0.190438	0.25391	N	0.031008	T	0.13457	0.0326	N	0.12422	0.21	0.18873	N	0.999989	B	0.06786	0.001	B	0.10450	0.005	T	0.32052	-0.9921	10	0.02654	T	1	-6.68	5.7165	0.17962	0.4053:0.0:0.5947:0.0	.	208	Q8NHB8	OR5K2_HUMAN	I	208	ENSP00000393889:V208I	ENSP00000393889:V208I	V	+	1	0	OR5K2	99699836	0.000000	0.05858	0.015000	0.15790	0.050000	0.14768	-0.611000	0.05622	-0.072000	0.12864	0.313000	0.20887	GTC		0.378	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			A	98217146	G	A	98217146	3	1	9	1	0	0	0	0	1	0	0	0	11167	1029	36	2	624	2	OR5K2	3	98217146	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09		98217146	99805284	28	519											
IGSF10	285313	genome.wustl.edu	37	3	151164524	151164524	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr3:151164524G>C	ENST00000282466.3	-	4	3244	c.3245C>G	c.(3244-3246)cCa>cGa	p.P1082R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1082					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.P1082R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGCACTTGGAAAAGACAA	0.488																																																1	Substitution - Missense(1)	ovary(1)	3											131	133	132					3																	151164524		2203	4300	6503	152647214	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3245C>G	3.37:g.151164524G>C	ENSP00000282466:p.Pro1082Arg		152647214	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576495	0.45902	.	.	ENSG00000152580	ENST00000282466	T	0.68025	-0.3	5.46	3.65	0.41850	.	0.169667	0.28151	N	0.016403	T	0.62073	0.2398	L	0.34521	1.04	0.09310	N	1	P	0.50272	0.933	P	0.49665	0.618	T	0.55451	-0.8139	10	0.59425	D	0.04	.	10.6076	0.45402	0.2168:0.0:0.7832:0.0	.	1082	Q6WRI0	IGS10_HUMAN	R	1082	ENSP00000282466:P1082R	ENSP00000282466:P1082R	P	-	2	0	IGSF10	152647214	0.563000	0.26594	0.001000	0.08648	0.017000	0.09413	1.719000	0.38011	0.663000	0.31027	0.591000	0.81541	CCA		0.488	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151164524	G	C	151164524	3	2	9	1	0	0	0	0	1	0	0	0	7597	1348	47	3	4686	3	IGSF10	3	151164524	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	52947378	151164524	46857906	29	520											
PHC3	80012	genome.wustl.edu	37	3	169847157	169847157	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr3:169847157T>G	ENST00000494943.1	-	8	1135	c.1067A>C	c.(1066-1068)cAg>cCg	p.Q356P	PHC3_ENST00000495893.2_Missense_Mutation_p.Q368P|PHC3_ENST00000467570.1_Missense_Mutation_p.Q315P			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	356	Gln-rich.|Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q337P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCCATGGTTCTGGAGTGGTAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	3											203	204	204					3																	169847157		2050	4186	6236	171329851	SO:0001583	missense	80012				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1067A>C	3.37:g.169847157T>G	ENSP00000420271:p.Gln356Pro		171329851	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37		.	.	.	.	.	.	.	.	.	.	T	3.840	-0.034045	0.07543	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931	T;T	0.32753	1.44;1.44	5.49	-2.28	0.06826	.	0.418236	0.22714	N	0.056530	T	0.18087	0.0434	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.16988	-1.0384	10	0.13470	T	0.59	-0.7931	18.0781	0.89433	0.0:0.0:0.6744:0.3256	.	315;315;356;368	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	P	356;368;315;194	ENSP00000420271:Q356P;ENSP00000420294:Q368P	ENSP00000419089:Q315P	Q	-	2	0	PHC3	171329851	0.843000	0.29541	0.954000	0.39281	0.917000	0.54804	0.574000	0.23714	-0.229000	0.09854	-0.316000	0.08728	CAG		0.483	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		G	169847157	T	G	169847157	3	3	9	1	0	0	0	0	1	0	0	0	11818	1580	55	5	1916	5	PHC3	3	169847157	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	18682633	169847157	28175273	30	521											
TLR1	7096	genome.wustl.edu	37	4	38799027	38799027	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr4:38799027C>T	ENST00000502213.2	-	3	1655	c.1426G>A	c.(1426-1428)Gct>Act	p.A476T	TLR1_ENST00000308979.2_Missense_Mutation_p.A476T|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	476					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A476T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GAATTGAAAGCAACATTGAGT	0.398																																					GBM(5;216 373 40795 46382)											1	Substitution - Missense(1)	ovary(1)	4											77	82	80					4																	38799027		2203	4298	6501	38475422	SO:0001583	missense	7096			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1426G>A	4.37:g.38799027C>T	ENSP00000421259:p.Ala476Thr		38475422	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631635	0.67015	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.56941	0.43;0.43	4.61	4.61	0.57282	.	0.097855	0.44097	D	0.000482	T	0.54806	0.1881	N	0.16708	0.43	0.36856	D	0.888167	D	0.60575	0.988	D	0.67382	0.951	T	0.64947	-0.6287	10	0.87932	D	0	.	13.0242	0.58806	0.161:0.839:0.0:0.0	.	476	Q15399	TLR1_HUMAN	T	476	ENSP00000354932:A476T;ENSP00000421259:A476T	ENSP00000354932:A476T	A	-	1	0	TLR1	38475422	0.994000	0.37717	0.907000	0.35723	0.992000	0.81027	3.059000	0.49947	2.548000	0.85928	0.650000	0.86243	GCT		0.398	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			T	38799027	C	T	38799027	3	4	9	1	0	0	0	0	1	0	0	0	15949	710	25	2	938	2	TLR1	4	38799027	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		38799027	152355249	31	522											
CEP135	9662	genome.wustl.edu	37	4	56878120	56878120	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr4:56878120G>T	ENST00000257287.4	+	21	2895	c.2771G>T	c.(2770-2772)aGa>aTa	p.R924I		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	924					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.R924I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTTCGAGAAAGAGTGGAGCTA	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											54	55	55					4																	56878120		2203	4300	6503	56572877	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2771G>T	4.37:g.56878120G>T	ENSP00000257287:p.Arg924Ile		56572877	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059103	0.76074	.	.	ENSG00000174799	ENST00000257287	T	0.14266	2.52	5.69	4.85	0.62838	.	0.083754	0.85682	D	0.000000	T	0.37156	0.0993	M	0.76574	2.34	0.58432	D	0.999999	D	0.71674	0.998	D	0.71184	0.972	T	0.21245	-1.0251	10	0.56958	D	0.05	.	15.1561	0.72743	0.0679:0.0:0.9321:0.0	.	924	Q66GS9	CP135_HUMAN	I	924	ENSP00000257287:R924I	ENSP00000257287:R924I	R	+	2	0	CEP135	56572877	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.464000	0.60134	1.542000	0.49330	-0.150000	0.13652	AGA		0.358	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		T	56878120	G	T	56878120	3	4	9	1	0	0	0	0	1	0	0	0	3247	942	33	3	2849	3	CEP135	4	56878120	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	18079093	56878120	134276156	32	523											
HPSE	10855	genome.wustl.edu	37	4	84231915	84231915	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr4:84231915C>T	ENST00000405413.2	-	6	938	c.802G>A	c.(802-804)Gtt>Att	p.V268I	HPSE_ENST00000513463.1_Missense_Mutation_p.V210I|HPSE_ENST00000311412.5_Missense_Mutation_p.V268I|HPSE_ENST00000512196.1_Missense_Mutation_p.V268I	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	268					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)	p.V268I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GGCTGACCAACATCAGGACCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											209	201	204					4																	84231915		2203	4300	6503	84450939	SO:0001583	missense	10855			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.802G>A	4.37:g.84231915C>T	ENSP00000384262:p.Val268Ile		84450939	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154470	0.06544	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.11	-4.78	0.03209	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.643383	0.16294	N	0.220767	T	0.12433	0.0302	N	0.05534	-0.03	0.24037	N	0.996098	B;B;B	0.25105	0.011;0.025;0.118	B;B;B	0.25140	0.013;0.05;0.058	T	0.26608	-1.0098	10	0.07030	T	0.85	-2.178	15.3376	0.74269	0.0:0.319:0.0:0.681	.	268;210;268	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	I	268;268;268;210	ENSP00000308107:V268I;ENSP00000384262:V268I;ENSP00000423265:V268I;ENSP00000421365:V210I	ENSP00000308107:V268I	V	-	1	0	HPSE	84450939	0.001000	0.12720	0.011000	0.14972	0.928000	0.56348	-0.754000	0.04787	-1.049000	0.03234	0.585000	0.79938	GTT		0.383	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		T	84231915	C	T	84231915	3	4	9	1	0	0	0	0	1	0	0	0	7344	478	17	2	861	2	HPSE	4	84231915	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	27353795	84231915	106922361	33	524											
ADAM29	11086	genome.wustl.edu	37	4	175897680	175897680	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr4:175897680G>T	ENST00000359240.3	+	5	1674	c.1004G>T	c.(1003-1005)gGt>gTt	p.G335V	ADAM29_ENST00000404450.4_Missense_Mutation_p.G335V|ADAM29_ENST00000445694.1_Missense_Mutation_p.G335V|ADAM29_ENST00000514159.1_Missense_Mutation_p.G335V|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	335	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G335V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATCATCTAGGTCATAATTTG	0.393																																					Ovarian(140;1727 1835 21805 25838 41440)											1	Substitution - Missense(1)	ovary(1)	4											154	150	152					4																	175897680		2203	4300	6503	176134255	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1004G>T	4.37:g.175897680G>T	ENSP00000352177:p.Gly335Val		176134255	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697400	0.30142	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	3.6	2.74	0.32292	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.32769	U	0.005665	T	0.71584	0.3357	H	0.95260	3.645	0.50171	D	0.999853	D	0.89917	1.0	D	0.97110	1.0	T	0.78795	-0.2064	9	.	.	.	.	11.2353	0.48936	0.0:0.1879:0.8121:0.0	.	335	Q9UKF5	ADA29_HUMAN	V	335	ENSP00000352177:G335V;ENSP00000414544:G335V;ENSP00000384229:G335V;ENSP00000423517:G335V	.	G	+	2	0	ADAM29	176134255	1.000000	0.71417	0.929000	0.37066	0.019000	0.09904	5.399000	0.66314	1.063000	0.40649	0.579000	0.79373	GGT		0.393	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175897680	G	T	175897680	3	4	9	1	0	0	0	0	1	0	0	0	247	1261	44	3	1006	3	ADAM29	4	175897680	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	91665765	175897680	15256596	34	525											
ADAM29	11086	genome.wustl.edu	37	4	175897769	175897769	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr4:175897769A>G	ENST00000359240.3	+	5	1763	c.1093A>G	c.(1093-1095)Aaa>Gaa	p.K365E	ADAM29_ENST00000404450.4_Missense_Mutation_p.K365E|ADAM29_ENST00000445694.1_Missense_Mutation_p.K365E|ADAM29_ENST00000514159.1_Missense_Mutation_p.K365E|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	365	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K365E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACCAATAACTAAATTTAGCAA	0.368																																					Ovarian(140;1727 1835 21805 25838 41440)											1	Substitution - Missense(1)	ovary(1)	4											119	118	119					4																	175897769		2203	4300	6503	176134344	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1093A>G	4.37:g.175897769A>G	ENSP00000352177:p.Lys365Glu		176134344	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661409	0.47572	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	3.6	-2.46	0.06461	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	2.177720	0.03186	U	0.172723	T	0.50360	0.1611	L	0.31371	0.925	0.09310	N	1	P	0.41978	0.767	B	0.42112	0.376	T	0.44772	-0.9306	9	.	.	.	.	6.7165	0.23306	0.4584:0.45:0.0916:0.0	.	365	Q9UKF5	ADA29_HUMAN	E	365	ENSP00000352177:K365E;ENSP00000414544:K365E;ENSP00000384229:K365E;ENSP00000423517:K365E	.	K	+	1	0	ADAM29	176134344	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.803000	0.04540	-0.375000	0.07955	0.472000	0.43445	AAA		0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				G	175897769	A	G	175897769	3	3	9	1	0	0	0	0	1	0	0	0	247	363	13	4	1095	4	ADAM29	4	175897769	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09	89	175897769	15256507	35	526											
FAT1	2195	genome.wustl.edu	37	4	187630233	187630233	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr4:187630233G>A	ENST00000441802.2	-	2	958	c.749C>T	c.(748-750)gCc>gTc	p.A250V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	250	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A250V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACATTCATTGGCCTGTTCGAT	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											1	Substitution - Missense(1)	ovary(1)	4											156	156	156					4																	187630233		2181	4281	6462	187867227	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.749C>T	4.37:g.187630233G>A	ENSP00000406229:p.Ala250Val		187867227		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	4.320	0.058742	0.08339	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.58358	0.34;0.34	5.04	5.04	0.67666	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	N	0.02830	-0.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.42666	-0.9438	10	0.06099	T	0.92	.	18.5672	0.91120	0.0:0.0:1.0:0.0	.	250	Q14517	FAT1_HUMAN	V	250	ENSP00000406229:A250V;ENSP00000423736:A250V	ENSP00000260147:A250V	A	-	2	0	FAT1	187867227	1.000000	0.71417	0.991000	0.47740	0.101000	0.19017	7.674000	0.83992	2.613000	0.88420	0.591000	0.81541	GCC		0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187630233	G	A	187630233	3	1	9	1	0	0	0	0	1	0	0	0	5689	1203	42	2	13121	2	FAT1	4	187630233	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	11732464	187630233	3524043	36	527											
RNASEN	29102	genome.wustl.edu	37	5	31449420	31449420	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr5:31449420C>G	ENST00000511367.2	-	21	3033	c.2789G>C	c.(2788-2790)aGa>aCa	p.R930T	DROSHA_ENST00000513349.1_Missense_Mutation_p.R893T|DROSHA_ENST00000442743.1_Missense_Mutation_p.R893T|DROSHA_ENST00000344624.3_Missense_Mutation_p.R930T	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	930	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R930T(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATGAACTTTTCTGTCTCCGTA	0.373																																																1	Substitution - Missense(1)	ovary(1)	5											98	94	95					5																	31449420		1920	4126	6046	31485177	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2789G>C	5.37:g.31449420C>G	ENSP00000425979:p.Arg930Thr		31485177	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321513	0.95682	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.52983	1.25;1.25;0.64;0.64	5.76	5.76	0.90799	Ribonuclease III (2);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.67953	2.075	0.80722	D	1	P;P	0.51351	0.944;0.804	P;P	0.53450	0.726;0.554	T	0.65421	-0.6172	10	0.87932	D	0	-21.8009	19.9788	0.97318	0.0:1.0:0.0:0.0	.	893;930	E7EMP9;Q9NRR4	.;RNC_HUMAN	T	930;930;893;893;855;886	ENSP00000425979:R930T;ENSP00000339845:R930T;ENSP00000409335:R893T;ENSP00000424161:R893T	ENSP00000265075:R855T	R	-	2	0	DROSHA	31485177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.360000	0.79487	2.719000	0.93026	0.555000	0.69702	AGA		0.373	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		G	31449420	C	G	31449420	3	3	9	1	0	0	0	0	1	0	0	0	13420	913	32	3	1395	3	RNASEN	5	31449420	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		31449420	149465840	37	528											
GOLPH3	64083	genome.wustl.edu	37	5	32126330	32126330	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr5:32126330C>T	ENST00000265070.6	-	4	1200	c.885G>A	c.(883-885)gcG>gcA	p.A295A	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	295					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.A295A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ACTTGGTGAACGCCGCCACCA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	5											106	106	106					5																	32126330		2203	4300	6503	32162087	SO:0001819	synonymous_variant	64083			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.885G>A	5.37:g.32126330C>T			32162087	Q9UIW5	Silent	SNP	ENST00000265070.6	37	CCDS3896.1																																																																																				0.478	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		T	32126330	C	T	32126330	2	4	9	1	0	0	0	0	0	0	0	1	6568	523	19	1		1	GOLPH3	5	32126330	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	676910	32126330	148788930	38	529											
TSSK1B	83942	genome.wustl.edu	37	5	112769970	112769970	+	Silent	SNP	G	G	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr5:112769970G>A	ENST00000390666.3	-	1	758	c.567C>T	c.(565-567)ggC>ggT	p.G189G	CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.G189G(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGTAGGGAATGCCCTGCAGCA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	5											55	54	54					5																	112769970		2202	4300	6502	112797869	SO:0001819	synonymous_variant	83942			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.567C>T	5.37:g.112769970G>A			112797869	B2R8D9	Silent	SNP	ENST00000390666.3	37	CCDS4112.1																																																																																				0.582	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		A	112769970	G	A	112769970	2	1	9	1	0	0	0	0	0	0	0	1	16668	1306	46	2		2	TSSK1B	5	112769970	Silent	SNP	G	TCGA-04-1347-01A-01W-0488-09	80643640	112769970	68145290	39	530											
DMXL1	1657	genome.wustl.edu	37	5	118485175	118485175	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr5:118485175C>G	ENST00000311085.8	+	18	3733	c.3653C>G	c.(3652-3654)tCt>tGt	p.S1218C	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1218C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1218								p.S1218Y(1)|p.S1218C(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTCCTGTTTCTTTATCGTGG	0.443																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	5											137	138	138					5																	118485175		2202	4300	6502	118513074	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3653C>G	5.37:g.118485175C>G	ENSP00000309690:p.Ser1218Cys		118513074		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184634	0.57909	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01505	4.82;4.82	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	M	0.76574	2.34	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.948	T	0.00581	-1.1660	10	0.49607	T	0.09	-17.336	19.5134	0.95153	0.0:1.0:0.0:0.0	.	1218;1218	F5H269;Q9Y485	.;DMXL1_HUMAN	C	1218	ENSP00000309690:S1218C;ENSP00000439479:S1218C	ENSP00000309690:S1218C	S	+	2	0	DMXL1	118513074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.696000	0.92011	0.655000	0.94253	TCT		0.443	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		G	118485175	C	G	118485175	3	3	9	1	0	0	0	0	1	0	0	0	4594	913	32	3	3723	3	DMXL1	5	118485175	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	5715205	118485175	62430085	40	531											
MEGF10	84466	genome.wustl.edu	37	5	126732383	126732383	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr5:126732383G>C	ENST00000274473.6	+	7	839	c.572G>C	c.(571-573)tGt>tCt	p.C191S	MEGF10_ENST00000503335.2_Missense_Mutation_p.C191S|MEGF10_ENST00000508365.1_Missense_Mutation_p.C191S|MEGF10_ENST00000418761.2_Missense_Mutation_p.C191S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	191	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.C191S(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGTAACGACTGTCATCAGAGA	0.637																																																1	Substitution - Missense(1)	ovary(1)	5											52	54	53					5																	126732383		2203	4300	6503	126760282	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.572G>C	5.37:g.126732383G>C	ENSP00000274473:p.Cys191Ser		126760282	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154696	0.94686	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.63	5.63	0.86233	EGF-like, laminin (2);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.89434	0.6714	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92842	0.6289	10	0.72032	D	0.01	-12.0613	19.6772	0.95941	0.0:0.0:1.0:0.0	.	191;191	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	S	191	ENSP00000423354:C191S;ENSP00000423195:C191S;ENSP00000416284:C191S;ENSP00000274473:C191S	ENSP00000274473:C191S	C	+	2	0	MEGF10	126760282	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.656000	0.90262	0.655000	0.94253	TGT		0.637	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		C	126732383	G	C	126732383	3	2	9	1	0	0	0	0	1	0	0	0	9460	1377	48	3	590	3	MEGF10	5	126732383	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	8247208	126732383	54182877	41	532											
EXOC2	55770	genome.wustl.edu	37	6	633067	633067	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr6:633067C>A	ENST00000230449.4	-	3	304	c.169G>T	c.(169-171)Gca>Tca	p.A57S	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	57	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A57S(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ATTTTACTTGCAGACATCCAT	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											136	116	123					6																	633067		2203	4300	6503	578067	SO:0001583	missense	55770			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.169G>T	6.37:g.633067C>A	ENSP00000230449:p.Ala57Ser		578067	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369481	0.42003	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	T;T	0.72725	-0.68;-0.68	5.55	4.68	0.58851	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.045983	0.85682	D	0.000000	T	0.23370	0.0565	N	0.02202	-0.64	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.35251	-0.9796	10	0.02654	T	1	-23.1357	16.4418	0.83903	0.0:0.8683:0.1317:0.0	.	57	Q96KP1	EXOC2_HUMAN	S	57	ENSP00000230449:A57S;ENSP00000406400:A57S	ENSP00000230449:A57S	A	-	1	0	EXOC2	578067	1.000000	0.71417	0.927000	0.36925	0.997000	0.91878	4.677000	0.61634	1.328000	0.45358	0.655000	0.94253	GCA		0.408	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		A	633067	C	A	633067	3	1	9	1	0	0	0	0	1	0	0	0	5302	710	25	3	2709	3	EXOC2	6	633067	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		633067	170482000	42	533											
HIST1H2BG	8339	genome.wustl.edu	37	6	26216823	26216823	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr6:26216823T>C	ENST00000244601.3	-	1	49	c.49A>G	c.(49-51)Aag>Gag	p.K17E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	17					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K17E(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GTCACAGCCTTCTTGGAACCC	0.483																																																1	Substitution - Missense(1)	ovary(1)	6											147	132	137					6																	26216823		2203	4300	6503	26324802	SO:0001583	missense	8339			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.49A>G	6.37:g.26216823T>C	ENSP00000244601:p.Lys17Glu		26324802	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	15.50	2.851696	0.51270	.	.	ENSG00000187990	ENST00000244601	T	0.22945	1.93	4.0	4.0	0.46444	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.36882	D	0.88944	.	.	.	.	.	.	T	0.15954	-1.0419	6	0.87932	D	0	.	12.5323	0.56122	0.0:0.0:0.0:1.0	.	.	.	.	E	17	ENSP00000244601:K17E	ENSP00000244601:K17E	K	-	1	0	HIST1H2BG	26324802	1.000000	0.71417	0.990000	0.47175	0.593000	0.36681	7.564000	0.82326	1.802000	0.52723	0.533000	0.62120	AAG		0.483	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		C	26216823	T	C	26216823	3	2	9	1	0	0	0	0	1	0	0	0	7146	1792	62	4	335	4	HIST1H2BG	6	26216823	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	25583756	26216823	144898244	43	534											
ZNF323	64288	genome.wustl.edu	37	6	28294364	28294364	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr6:28294364T>A	ENST00000414429.1	-	8	1703	c.800A>T	c.(799-801)tAt>tTt	p.Y267F	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.Y267F|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.Y108F|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.Y267F|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.Y267F			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	267					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.Y267F(1)									TTCACATTCATATGGCTTCTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	6											127	121	123					6																	28294364		2203	4300	6503	28402343	SO:0001583	missense	64288				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.800A>T	6.37:g.28294364T>A	ENSP00000390076:p.Tyr267Phe		28402343	Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790347	0.50102	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	4.79	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	N	0.03891	-0.335	0.09310	N	1	B	0.34061	0.436	B	0.41236	0.351	T	0.35822	-0.9773	9	0.49607	T	0.09	.	4.836	0.13466	0.2789:0.0956:0.0:0.6256	.	267	Q96LW9	ZN323_HUMAN	F	267;267;267;108;267;108	ENSP00000380050:Y267F;ENSP00000413705:Y267F;ENSP00000390076:Y267F;ENSP00000402937:Y108F;ENSP00000345339:Y267F;ENSP00000391235:Y108F	ENSP00000345339:Y267F	Y	-	2	0	ZNF323	28402343	0.000000	0.05858	0.625000	0.29200	0.987000	0.75469	-0.512000	0.06313	0.763000	0.33175	0.477000	0.44152	TAT		0.498	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		A	28294364	T	A	28294364	3	1	9	1	0	0	0	0	1	0	0	0	17843	1406	49	5	424	5	ZNF323	6	28294364	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	2077541	28294364	142820703	44	535											
NOTCH4	4855	genome.wustl.edu	37	6	32190345	32190345	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr6:32190345G>A	ENST00000375023.3	-	3	532	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	132	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R132C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATGTGGCAGCGGCCCCTTTTG	0.632																																																1	Substitution - Missense(1)	ovary(1)	6											37	42	40					6																	32190345		2202	4299	6501	32298323	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.394C>T	6.37:g.32190345G>A	ENSP00000364163:p.Arg132Cys		32298323	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523078	0.64747	.	.	ENSG00000204301	ENST00000375023	T	0.09538	2.97	4.14	3.19	0.36642	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.499688	0.16946	N	0.193086	T	0.12008	0.0292	M	0.73319	2.225	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.53360	0.724;0.513	T	0.01966	-1.1238	10	0.72032	D	0.01	.	8.9746	0.35928	0.0:0.0:0.5083:0.4917	.	132;132	Q6P3V5;Q99466	.;NOTC4_HUMAN	C	132	ENSP00000364163:R132C	ENSP00000364163:R132C	R	-	1	0	NOTCH4	32298323	1.000000	0.71417	0.989000	0.46669	0.958000	0.62258	1.359000	0.34113	0.773000	0.33404	0.561000	0.74099	CGC		0.632	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32190345	G	A	32190345	3	1	9	1	0	0	0	0	1	0	0	0	10551	1116	39	1	5729	1	NOTCH4	6	32190345	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	3895981	32190345	138924722	45	536											
RING1	6015	genome.wustl.edu	37	6	33177781	33177781	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr6:33177781T>G	ENST00000374656.4	+	4	537	c.329T>G	c.(328-330)aTc>aGc	p.I110S	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	110	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I110S(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						ATCTCTAAGATCTATCCTAGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	6											70	63	66					6																	33177781		2203	4300	6503	33285759	SO:0001583	missense	6015				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.329T>G	6.37:g.33177781T>G	ENSP00000363787:p.Ile110Ser		33285759	A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791731	0.70452	.	.	ENSG00000204227	ENST00000374656	D	0.85702	-2.02	4.23	4.23	0.50019	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.89206	0.6649	M	0.73598	2.24	0.58432	D	0.999997	D	0.71674	0.998	D	0.83275	0.996	D	0.90554	0.4511	10	0.87932	D	0	-27.3229	11.3179	0.49403	0.0:0.0:0.0:1.0	.	110	Q06587	RING1_HUMAN	S	110	ENSP00000363787:I110S	ENSP00000363787:I110S	I	+	2	0	RING1	33285759	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	7.463000	0.80869	1.767000	0.52121	0.443000	0.29094	ATC		0.567	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			G	33177781	T	G	33177781	3	3	9	1	0	0	0	0	1	0	0	0	13377	1435	50	5	339	5	RING1	6	33177781	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	987436	33177781	137937286	46	537											
HS3ST5	222537	genome.wustl.edu	37	6	114379323	114379323	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr6:114379323G>T	ENST00000312719.5	-	5	1327	c.139C>A	c.(139-141)Ctg>Atg	p.L47M	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.L47M			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	47					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.L47M(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCTCCACCCAGTCGACCTTCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	6											23	23	23					6																	114379323		2203	4300	6503	114486016	SO:0001583	missense	222537			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.139C>A	6.37:g.114379323G>T	ENSP00000427888:p.Leu47Met		114486016	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	G	0.103	-1.149946	0.01714	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.46451	0.87;0.87	5.77	0.831	0.18860	.	0.512641	0.20659	N	0.088051	T	0.09158	0.0226	N	0.14661	0.345	0.26592	N	0.973176	B	0.21309	0.054	B	0.18871	0.023	T	0.30534	-0.9975	10	0.35671	T	0.21	.	9.2304	0.37432	0.7233:0.0:0.2767:0.0	.	47	Q8IZT8	HS3S5_HUMAN	M	47	ENSP00000427888:L47M;ENSP00000440332:L47M	ENSP00000427888:L47M	L	-	1	2	HS3ST5	114486016	1.000000	0.71417	0.815000	0.32552	0.057000	0.15508	1.931000	0.40134	0.191000	0.20236	-0.793000	0.03317	CTG		0.537	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		T	114379323	G	T	114379323	3	4	9	1	0	0	0	0	1	0	0	0	7368	1020	36	3	905	3	HS3ST5	6	114379323	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	81201542	114379323	56735744	47	538											
ROS1	6098	genome.wustl.edu	37	6	117710595	117710595	+	Silent	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr6:117710595G>T	ENST00000368508.3	-	12	1875	c.1677C>A	c.(1675-1677)ggC>ggA	p.G559G	ROS1_ENST00000368507.3_Silent_p.G568G|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	559	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G559G(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTGCGGGCGGCCTGGCAGAG	0.547			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	1	Substitution - coding silent(1)	ovary(1)	6											81	86	84					6																	117710595		2203	4300	6503	117817288	SO:0001819	synonymous_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1677C>A	6.37:g.117710595G>T			117817288	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																				0.547	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117710595	G	T	117710595	2	4	9	1	0	0	0	0	0	0	0	1	13534	1190	42	3		3	ROS1	6	117710595	Silent	SNP	G	TCGA-04-1347-01A-01W-0488-09	3331272	117710595	53404472	48	539											
GRM3	2913	genome.wustl.edu	37	7	86468316	86468316	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr7:86468316T>A	ENST00000361669.2	+	4	2585	c.1486T>A	c.(1486-1488)Tct>Act	p.S496T	GRM3_ENST00000546348.1_Missense_Mutation_p.S88T|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.S368T|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	496					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.S496T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AGATGTCAACTCTATCCACTG	0.493																																					GBM(52;969 1098 3139 52280)											1	Substitution - Missense(1)	ovary(1)	7											87	78	81					7																	86468316		2203	4300	6503	86306252	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1486T>A	7.37:g.86468316T>A	ENSP00000355316:p.Ser496Thr		86306252	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	1.633	-0.518515	0.04171	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.90069	-2.61;-2.61;-2.61	5.91	4.73	0.59995	.	0.206106	0.45867	D	0.000322	T	0.78355	0.4270	N	0.22421	0.69	0.27984	N	0.935933	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.62300	-0.6883	10	0.15066	T	0.55	.	7.7235	0.28746	0.1389:0.0:0.1455:0.7156	.	88;368;496	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	T	496;88;368	ENSP00000355316:S496T;ENSP00000444064:S88T;ENSP00000441407:S368T	ENSP00000355316:S496T	S	+	1	0	GRM3	86306252	0.014000	0.17966	0.944000	0.38274	0.357000	0.29423	0.040000	0.13905	1.023000	0.39654	0.533000	0.62120	TCT		0.493	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86468316	T	A	86468316	3	1	9	1	0	0	0	0	1	0	0	0	6798	1551	54	5	1496	5	GRM3	7	86468316	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09		86468316	72670347	49	540											
ASZ1	136991	genome.wustl.edu	37	7	117021117	117021117	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr7:117021117C>G	ENST00000284629.2	-	9	955	c.893G>C	c.(892-894)aGg>aCg	p.R298T		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.R298T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGTTATATCCCTTTCCTGTAT	0.313																																																1	Substitution - Missense(1)	ovary(1)	7											132	138	136					7																	117021117		2202	4296	6498	116808353	SO:0001583	missense	136991			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.893G>C	7.37:g.117021117C>G	ENSP00000284629:p.Arg298Thr		116808353		Missense_Mutation	SNP	ENST00000284629.2	37	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744017	0.49151	.	.	ENSG00000154438	ENST00000284629	D	0.84370	-1.84	5.57	2.63	0.31362	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.370050	0.33110	N	0.005277	D	0.82384	0.5025	L	0.51422	1.61	0.25645	N	0.986151	P;P	0.36837	0.571;0.571	B;B	0.43123	0.409;0.409	T	0.73636	-0.3920	10	0.54805	T	0.06	-16.0118	8.835	0.35107	0.0:0.7473:0.0:0.2527	.	298;298	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	T	298	ENSP00000284629:R298T	ENSP00000284629:R298T	R	-	2	0	ASZ1	116808353	0.061000	0.20836	0.998000	0.56505	0.806000	0.45545	0.125000	0.15749	0.325000	0.23359	-0.345000	0.07892	AGG		0.313	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		G	117021117	C	G	117021117	3	3	9	1	0	0	0	0	1	0	0	0	1069	681	24	3	554	3	ASZ1	7	117021117	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	30552801	117021117	42117546	50	541											
BRAF	673	genome.wustl.edu	37	7	140449169	140449169	+	Nonsense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr7:140449169G>C	ENST00000288602.6	-	16	1970	c.1910C>G	c.(1909-1911)tCa>tGa	p.S637*		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S637*(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATATACATCTGACTGAAAGCT	0.343		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	1	Substitution - Nonsense(1)	ovary(1)	7											104	108	107					7																	140449169		2202	4300	6502	140095638	SO:0001587	stop_gained	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1910C>G	7.37:g.140449169G>C	ENSP00000288602:p.Ser637*		140095638	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Nonsense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.156366|5.156366	0.94686|0.94686	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.78572|.	0.4304|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81741|.	-0.0794|.	3|.	.|0.87932	.|D	.|0	.|.	18.7092|18.7092	0.91649|0.91649	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	245|637	.|.	.|ENSP00000288602:S637X	Q|S	-|-	1|2	0|0	BRAF|BRAF	140095638|140095638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.813000|9.813000	0.99286|0.99286	2.502000|2.502000	0.84385|0.84385	0.462000|0.462000	0.41574|0.41574	CAG|TCA		0.343	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		C	140449169	G	C	140449169	4	2	9	1	0	0	0	0	0	1	0	0	1496	1294	45	3	402	3	BRAF	7	140449169	Nonsense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	23428052	140449169	18689494	51	542											
ZNF398	57541	genome.wustl.edu	37	7	148851129	148851129	+	Silent	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr7:148851129A>G	ENST00000475153.1	+	2	384	c.117A>G	c.(115-117)gcA>gcG	p.A39A	ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000540950.1_Silent_p.A44A|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	39					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A39A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGCAGACAGCAGCTATCTCTC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	7											69	69	69					7																	148851129		2203	4300	6503	148482062	SO:0001819	synonymous_variant	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.117A>G	7.37:g.148851129A>G			148482062	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	CCDS5894.1																																																																																				0.592	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			G	148851129	A	G	148851129	2	3	9	1	0	0	0	0	0	0	0	1	17885	175	7	4		4	ZNF398	7	148851129	Silent	SNP	A	TCGA-04-1347-01A-01W-0488-09	8401960	148851129	10287534	52	543											
KCNH2	3757	genome.wustl.edu	37	7	150649923	150649923	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr7:150649923C>T	ENST00000262186.5	-	6	1548	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	KCNH2_ENST00000392968.2_Missense_Mutation_p.D287N|KCNH2_ENST00000330883.4_Missense_Mutation_p.D43N|KCNH2_ENST00000430723.3_Missense_Mutation_p.D383N	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	383					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.D383N(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GGCAGCACGTCGGCGCCCAGG	0.677																																					GBM(137;110 1844 13671 20123 45161)											1	Substitution - Missense(1)	ovary(1)	7											68	58	62					7																	150649923		2203	4300	6503	150280856	SO:0001583	missense	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1147G>A	7.37:g.150649923C>T	ENSP00000262186:p.Asp383Asn		150280856	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846140	0.91277	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.99143	-3.46;-5.48;-5.48;-5.48	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.74647	2.275	0.51482	D	0.999925	D;D;D;D;P	0.89917	1.0;1.0;0.999;1.0;0.956	D;D;D;D;P	0.77557	0.99;0.988;0.932;0.957;0.761	D	0.99379	1.0922	10	0.56958	D	0.05	.	15.1057	0.72319	0.0:1.0:0.0:0.0	.	287;383;43;383;43	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	N	43;287;383;43;383	ENSP00000328531:D43N;ENSP00000376695:D287N;ENSP00000262186:D383N;ENSP00000387657:D383N	ENSP00000262186:D383N	D	-	1	0	KCNH2	150280856	1.000000	0.71417	0.628000	0.29241	0.832000	0.47134	5.961000	0.70356	2.167000	0.68274	0.455000	0.32223	GAC		0.677	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		T	150649923	C	T	150649923	3	4	9	1	0	0	0	0	1	0	0	0	8032	884	31	1	2641	1	KCNH2	7	150649923	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	1798794	150649923	8488740	53	544											
PTPRN2	5799	genome.wustl.edu	37	7	157959782	157959782	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr7:157959782C>G	ENST00000389418.4	-	6	760	c.751G>C	c.(751-753)Gcc>Ccc	p.A251P	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A234P|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A213P|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A274P|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A251P	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	251					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A251P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCCTCTGGGCAGCATAGGCA	0.672																																																1	Substitution - Missense(1)	ovary(1)	7											21	19	19					7																	157959782		2203	4300	6503	157652543	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.751G>C	7.37:g.157959782C>G	ENSP00000374069:p.Ala251Pro		157652543	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174018	0.57692	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.04156	3.74;3.69;3.73;3.75;3.73	4.8	3.9	0.45041	.	0.371554	0.19634	N	0.109612	T	0.06188	0.0160	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.32101	0.356;0.243;0.356;0.243;0.243	B;B;B;B;B	0.40864	0.342;0.116;0.342;0.116;0.116	T	0.34576	-0.9823	10	0.36615	T	0.2	.	10.9426	0.47283	0.0:0.81:0.19:0.0	.	274;213;251;234;251	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	P	213;251;234;251;274	ENSP00000387114:A213P;ENSP00000374064:A251P;ENSP00000374067:A234P;ENSP00000374069:A251P;ENSP00000385464:A274P	ENSP00000374064:A251P	A	-	1	0	PTPRN2	157652543	0.434000	0.25570	0.013000	0.15412	0.017000	0.09413	3.450000	0.52957	0.981000	0.38548	0.555000	0.69702	GCC		0.672	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			G	157959782	C	G	157959782	3	3	9	1	0	0	0	0	1	0	0	0	12811	710	25	3	2368	3	PTPRN2	7	157959782	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	7309859	157959782	1178881	54	545											
CSMD1	64478	genome.wustl.edu	37	8	3216715	3216715	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr8:3216715C>T	ENST00000520002.1	-	22	3821	c.3266G>A	c.(3265-3267)gGg>gAg	p.G1089E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1089E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1089E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1088E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1088E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1089E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1088E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1089	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G817E(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)		ACGGCGGCCCCCACCCAGGCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	8											68	73	72					8																	3216715		2203	4300	6503	3204122	SO:0001583	missense	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.3266G>A	8.37:g.3216715C>T	ENSP00000430733:p.Gly1089Glu		3204122	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	32|32	5.145942|5.145942	0.94603|0.94603	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.23950|.	1.88;1.88;1.88;1.88;1.88|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77003|.	0.4067|.	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|.	0.76599|.	-0.2900|.	10|.	0.52906|.	T|.	0.07|.	.|.	19.067|19.067	0.93116|0.93116	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1089;1089;1089|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	E|X	1089;1089;951;1088;1088;1088|568	ENSP00000383047:G1089E;ENSP00000430733:G1089E;ENSP00000441462:G1088E;ENSP00000446243:G1088E;ENSP00000441675:G1088E|.	ENSP00000320445:G951E|.	G|W	-|-	2|3	0|0	CSMD1|CSMD1	3204122|3204122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.612000|7.612000	0.82975|0.82975	2.489000|2.489000	0.83994|0.83994	0.550000|0.550000	0.68814|0.68814	GGG|TGG		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3216715	C	T	3216715	3	4	9	1	0	0	0	0	1	0	0	0	3944	623	22	2	7631	2	CSMD1	8	3216715	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		3216715	143147307	55	546											
GOT1L1	137362	genome.wustl.edu	37	8	37793234	37793234	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr8:37793234A>G	ENST00000307599.4	-	7	1016	c.917T>C	c.(916-918)cTg>cCg	p.L306P	GOT1L1_ENST00000518826.1_Missense_Mutation_p.L47P	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	306					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.L306P(1)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TTCTCCCAGCAGAGCAGGGTT	0.617																																																1	Substitution - Missense(1)	ovary(1)	8											27	29	29					8																	37793234		2039	4184	6223	37912392	SO:0001583	missense	137362			BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.917T>C	8.37:g.37793234A>G	ENSP00000303077:p.Leu306Pro		37912392	A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717813	0.48622	.	.	ENSG00000169154	ENST00000307599;ENST00000518826	D;D	0.97870	-4.58;-4.58	5.11	5.11	0.69529	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.231761	0.27881	N	0.017464	D	0.98779	0.9589	M	0.91872	3.25	0.58432	D	0.999999	D	0.69078	0.997	D	0.69479	0.964	D	0.99675	1.0997	10	0.87932	D	0	-7.6665	12.4795	0.55833	1.0:0.0:0.0:0.0	.	306	Q8NHS2	AATC2_HUMAN	P	306;47	ENSP00000303077:L306P;ENSP00000429558:L47P	ENSP00000303077:L306P	L	-	2	0	GOT1L1	37912392	0.808000	0.29022	0.675000	0.29917	0.235000	0.25334	4.881000	0.63114	1.953000	0.56701	0.529000	0.55759	CTG		0.617	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		G	37793234	A	G	37793234	3	3	9	1	0	0	0	0	1	0	0	0	6580	188	7	4	360	4	GOT1L1	8	37793234	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09	34576519	37793234	108570788	56	547											
CHD7	55636	genome.wustl.edu	37	8	61743045	61743045	+	Silent	SNP	T	T	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr8:61743045T>G	ENST00000423902.2	+	15	4166	c.3687T>G	c.(3685-3687)ctT>ctG	p.L1229L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1229					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L1229L(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCACATTTCTTTCCAAAGGCG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	8											115	110	112					8																	61743045		1882	4108	5990	61905599	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3687T>G	8.37:g.61743045T>G			61905599	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.403	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		G	61743045	T	G	61743045	2	3	9	1	0	0	0	0	0	0	0	1	3330	1828	64	5		5	CHD7	8	61743045	Silent	SNP	T	TCGA-04-1347-01A-01W-0488-09	23949811	61743045	84620977	57	548											
PLEKHF2	79666	genome.wustl.edu	37	8	96166689	96166689	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr8:96166689G>T	ENST00000315367.3	+	2	658	c.417G>T	c.(415-417)aaG>aaT	p.K139N	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.K139N	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	139					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)	p.K139N(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					AAAGTGGGAAGACACCCAGTA	0.413																																																1	Substitution - Missense(1)	ovary(1)	8											98	105	103					8																	96166689		2203	4300	6503	96235865	SO:0001583	missense	79666			AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.417G>T	8.37:g.96166689G>T	ENSP00000322373:p.Lys139Asn		96235865		Missense_Mutation	SNP	ENST00000315367.3	37	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966745	0.53507	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	T;T	0.81247	-1.47;-1.47	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	L	0.43646	1.37	0.80722	D	1	D	0.54047	0.964	P	0.56088	0.791	T	0.78453	-0.2198	10	0.18276	T	0.48	-16.701	15.2522	0.73556	0.067:0.0:0.933:0.0	.	139	Q9H8W4	PKHF2_HUMAN	N	139	ENSP00000322373:K139N;ENSP00000427792:K139N	ENSP00000322373:K139N	K	+	3	2	PLEKHF2	96235865	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.663000	0.46774	1.564000	0.49628	0.650000	0.86243	AAG		0.413	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613		T	96166689	G	T	96166689	3	4	9	1	0	0	0	0	1	0	0	0	12067	933	33	3	419	3	PLEKHF2	8	96166689	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	34423644	96166689	50197333	58	549											
FREM1	158326	genome.wustl.edu	37	9	14848670	14848670	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr9:14848670C>A	ENST00000380880.3	-	7	2037	c.1254G>T	c.(1252-1254)tgG>tgT	p.W418C	RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000380881.4_Missense_Mutation_p.W419C|FREM1_ENST00000422223.2_Missense_Mutation_p.W418C			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	418					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.W419C(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TACCTGTATTCCAGGATACAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	9											129	115	119					9																	14848670		1904	4128	6032	14838670	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1254G>T	9.37:g.14848670C>A	ENSP00000370262:p.Trp418Cys		14838670	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166191	0.78339	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.11277	2.79;2.79;2.79	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.03077	-1.1075	10	0.38643	T	0.18	-7.3065	19.8344	0.96650	0.0:1.0:0.0:0.0	.	418	Q5H8C1	FREM1_HUMAN	C	419;418;418	ENSP00000370263:W419C;ENSP00000412940:W418C;ENSP00000370262:W418C	ENSP00000370257:W421C	W	-	3	0	FREM1	14838670	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.487000	0.81328	2.692000	0.91855	0.655000	0.94253	TGG		0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		A	14848670	C	A	14848670	3	1	9	1	0	0	0	0	1	0	0	0	6044	856	30	3	5459	3	FREM1	9	14848670	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		14848670	126364761	59	550											
BAG1	573	genome.wustl.edu	37	9	33255264	33255264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr9:33255264G>A	ENST00000379704.2	-	7	1079	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000472232.3_Nonsense_Mutation_p.Q331*			Q99933	BAG1_HUMAN	BCL2-associated athanogene	331	Interaction with HSPA8.|Interaction with PPP1R15A.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.Q331*(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCAGTCTCCTGGCAGATGTTC	0.582																																					GBM(77;1066 1502 5858 12192)											1	Substitution - Nonsense(1)	ovary(1)	9											117	109	112					9																	33255264		2203	4300	6503	33245264	SO:0001587	stop_gained	573			AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.646C>T	9.37:g.33255264G>A	ENSP00000369026:p.Gln216*		33245264	O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Nonsense_Mutation	SNP	ENST00000379704.2	37	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	G	38	7.016063	0.98006	.	.	ENSG00000107262	ENST00000472232;ENST00000379704	.	.	.	4.73	3.81	0.43845	.	0.107310	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-14.8696	12.8749	0.57984	0.0:0.165:0.835:0.0	.	.	.	.	X	331;216	.	ENSP00000369026:Q216X	Q	-	1	0	BAG1	33245264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.840000	0.69402	1.317000	0.45149	0.655000	0.94253	CAG		0.582	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323		A	33255264	G	A	33255264	4	1	9	1	0	0	0	0	0	1	0	0	1286	1357	47	2	50	2	BAG1	9	33255264	Nonsense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	18406594	33255264	107958167	60	551											
ZBTB43	23099	genome.wustl.edu	37	9	129596150	129596150	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr9:129596150C>T	ENST00000373464.4	+	3	1626	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	ZBTB43_ENST00000449886.1_Silent_p.Y454Y|ZBTB43_ENST00000373457.1_Silent_p.Y454Y	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y454Y(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTAAGTCCTACGAAGCTGCAA	0.423																																																1	Substitution - coding silent(1)	ovary(1)	9											110	116	114					9																	129596150		2201	4291	6492	128635971	SO:0001819	synonymous_variant	23099			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1362C>T	9.37:g.129596150C>T			128635971	Q5JU96	Silent	SNP	ENST00000373464.4	37	CCDS6867.1																																																																																				0.423	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		T	129596150	C	T	129596150	2	4	9	1	0	0	0	0	0	0	0	1	17544	547	19	1		1	ZBTB43	9	129596150	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	96340886	129596150	11617281	61	552											
CUBN	8029	genome.wustl.edu	37	10	16982056	16982056	+	Silent	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr10:16982056C>A	ENST00000377833.4	-	37	5588	c.5523G>T	c.(5521-5523)acG>acT	p.T1841T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1841	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.T1841T(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGGAAGCCCGTGCCGCTGC	0.403																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	10											140	154	149					10																	16982056		2203	4300	6503	17022062	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5523G>T	10.37:g.16982056C>A			17022062	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	16982056	C	A	16982056	2	1	9	1	0	0	0	0	0	0	0	1	4051	639	23	3		3	CUBN	10	16982056	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09		16982056	118552691	62	553											
CYP2C18	1562	genome.wustl.edu	37	10	96447594	96447594	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr10:96447594G>T	ENST00000285979.6	+	2	435	c.236G>T	c.(235-237)gGa>gTa	p.G79V	CYP2C18_ENST00000339022.5_Missense_Mutation_p.G79V	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	79					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.G79V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GTGTTGCATGGATATGAAGCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											266	254	258					10																	96447594		2203	4300	6503	96437584	SO:0001583	missense	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.236G>T	10.37:g.96447594G>T	ENSP00000285979:p.Gly79Val		96437584	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.101807	0.76983	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.14144	2.53;2.53	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	T	0.52885	0.1762	H	0.97415	4	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.71682	-0.4519	10	0.87932	D	0	.	14.9723	0.71243	0.0:0.0:1.0:0.0	.	79;79	Q4VAT5;P33260	.;CP2CI_HUMAN	V	79	ENSP00000341293:G79V;ENSP00000285979:G79V	ENSP00000285979:G79V	G	+	2	0	CYP2C18	96437584	1.000000	0.71417	0.645000	0.29479	0.984000	0.73092	6.874000	0.75546	2.105000	0.64084	0.306000	0.20318	GGA		0.423	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		T	96447594	G	T	96447594	3	4	9	1	0	0	0	0	1	0	0	0	4165	1174	41	3	242	3	CYP2C18	10	96447594	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	79465538	96447594	39087153	63	554											
BLOC1S2	282991	genome.wustl.edu	37	10	102045938	102045938	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr10:102045938T>C	ENST00000370372.2	-	2	140	c.88A>G	c.(88-90)Aag>Gag	p.K30E	BLOC1S2_ENST00000361832.2_5'UTR|BLOC1S2_ENST00000441611.1_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	30					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)	p.K30E(1)		large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		GCAGGCTCCTTTGCTTCCTCA	0.587																																																1	Substitution - Missense(1)	ovary(1)	10											89	77	81					10																	102045938		2203	4300	6503	102035928	SO:0001583	missense	282991			AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"Biogenesis of lysosomal organelles complex-1 subunits"	20984	protein-coding gene	gene with protein product	"centrosome protein oncogene", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 2", "BLOC-1 subunit 2"	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.88A>G	10.37:g.102045938T>C	ENSP00000359398:p.Lys30Glu		102035928	B4DQV2|Q5W040|Q8WUI8	Missense_Mutation	SNP	ENST00000370372.2	37	CCDS7490.1	.	.	.	.	.	.	.	.	.	.	-	10.65	1.409497	0.25378	.	.	ENSG00000196072	ENST00000358848	.	.	.	5.58	5.58	0.84498	.	0.347203	0.33670	N	0.004666	T	0.27798	0.0684	N	0.24115	0.695	0.24361	N	0.994875	B	0.19817	0.039	B	0.19391	0.025	T	0.13764	-1.0497	9	0.26408	T	0.33	-13.7078	9.4421	0.38675	0.0:0.079:0.0:0.921	.	30	Q6QNY1	BL1S2_HUMAN	E	30	.	ENSP00000351716:K30E	K	-	1	0	BLOC1S2	102035928	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	4.585000	0.60977	2.126000	0.65437	0.449000	0.29647	AAG		0.587	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049861.2	NM_173809		C	102045938	T	C	102045938	3	2	9	1	0	0	0	0	1	0	0	0	1449	1850	64	4	356	4	BLOC1S2	10	102045938	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	5598344	102045938	33488809	64	555											
NAP1L4	4676	genome.wustl.edu	37	11	2981001	2981001	+	Splice_Site	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr11:2981001C>T	ENST00000380542.4	-	9	885	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	NAP1L4_ENST00000526115.1_Splice_Site_p.G249R	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	249					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.G249R(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TTTTCTTACCCGTCACAGTCC	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											116	105	109					11																	2981001		1845	4090	5935	2937577	SO:0001630	splice_region_variant	4676			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.746+1G>A	11.37:g.2981001C>T			2937577	B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441724	0.83993	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000532325;ENST00000448187	T;T;T	0.29142	1.58;1.58;1.58	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	M	0.92507	3.315	0.80722	D	1	D;D	0.60160	0.967;0.987	P;D	0.63113	0.855;0.911	T	0.74179	-0.3749	10	0.62326	D	0.03	-9.7584	17.8896	0.88867	0.0:1.0:0.0:0.0	.	249;249	F5HFY4;Q99733	.;NP1L4_HUMAN	R	249;249;249;134;261	ENSP00000369915:G249R;ENSP00000436397:G249R;ENSP00000387783:G261R	ENSP00000369915:G249R	G	-	1	0	NAP1L4	2937577	1.000000	0.71417	0.998000	0.56505	0.604000	0.37047	7.162000	0.77515	2.456000	0.83038	0.557000	0.71058	GGG		0.363	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969	Missense_Mutation	T	2981001	C	T	2981001	5	4	9	1	0	0	0	0	0	0	1	0	10159	666	23	1	410	1	NAP1L4	11	2981001	Splice_Site	SNP	C	TCGA-04-1347-01A-01W-0488-09		2981001	132025515	65	556											
C11orf42	160298	genome.wustl.edu	37	11	6231819	6231819	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr11:6231819C>A	ENST00000316375.2	+	2	862	c.812C>A	c.(811-813)cCc>cAc	p.P271H	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	271	Pro-rich.							p.P271H(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGACAAACCCACCAGATTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	11											34	38	37					11																	6231819		2200	4292	6492	6188395	SO:0001583	missense	160298			BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.812C>A	11.37:g.6231819C>A	ENSP00000321021:p.Pro271His		6188395		Missense_Mutation	SNP	ENST00000316375.2	37	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866548	0.17250	.	.	ENSG00000180878	ENST00000316375	T	0.46063	0.88	5.05	3.06	0.35304	.	0.230963	0.31199	N	0.008068	T	0.31513	0.0799	N	0.19112	0.55	0.24690	N	0.993317	B	0.31351	0.32	B	0.40285	0.325	T	0.26780	-1.0093	10	0.66056	D	0.02	-1.154	7.306	0.26447	0.0:0.782:0.0:0.218	.	271	Q8N5U0	CK042_HUMAN	H	271	ENSP00000321021:P271H	ENSP00000321021:P271H	P	+	2	0	C11orf42	6188395	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	0.667000	0.25112	0.730000	0.32425	-0.224000	0.12420	CCC		0.587	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		A	6231819	C	A	6231819	3	1	9	1	0	0	0	0	1	0	0	0	1641	623	22	3	818	3	C11orf42	11	6231819	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	3250818	6231819	128774697	66	557											
DAGLA	747	genome.wustl.edu	37	11	61511228	61511228	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr11:61511228G>C	ENST00000257215.5	+	20	2512	c.2396G>C	c.(2395-2397)gGc>gCc	p.G799A	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	799					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.G799A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGCTCCTCAGGCTTCCGCAGC	0.667																																																1	Substitution - Missense(1)	ovary(1)	11											54	61	59					11																	61511228		2022	4025	6047	61267804	SO:0001583	missense	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2396G>C	11.37:g.61511228G>C	ENSP00000257215:p.Gly799Ala		61267804	A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939257	0.18281	.	.	ENSG00000134780	ENST00000257215	T	0.20738	2.05	3.11	3.11	0.35812	.	0.059396	0.64402	D	0.000003	T	0.11793	0.0287	N	0.12182	0.205	0.52099	D	0.999949	B	0.11235	0.004	B	0.12837	0.008	T	0.10177	-1.0641	10	0.13470	T	0.59	-37.9663	15.476	0.75481	0.0:0.0:1.0:0.0	.	799	Q9Y4D2	DGLA_HUMAN	A	799	ENSP00000257215:G799A	ENSP00000257215:G799A	G	+	2	0	DAGLA	61267804	1.000000	0.71417	0.994000	0.49952	0.643000	0.38383	6.619000	0.74219	2.062000	0.61559	0.491000	0.48974	GGC		0.667	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		C	61511228	G	C	61511228	3	2	9	1	0	0	0	0	1	0	0	0	4226	1203	42	3	2470	3	DAGLA	11	61511228	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	55279409	61511228	73495288	67	558											
HEPHL1	341208	genome.wustl.edu	37	11	93754554	93754554	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr11:93754554C>T	ENST00000315765.9	+	1	28	c.20C>T	c.(19-21)gCt>gTt	p.A7V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	7					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.A7V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAGCAGCCAGCTGGCTGCATC	0.537																																																1	Substitution - Missense(1)	ovary(1)	11											105	106	106					11																	93754554		1927	4124	6051	93394202	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.20C>T	11.37:g.93754554C>T	ENSP00000313699:p.Ala7Val		93394202	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702667	0.48307	.	.	ENSG00000181333	ENST00000315765	D	0.99270	-5.66	5.87	3.95	0.45737	.	0.892845	0.09742	N	0.761788	D	0.97281	0.9111	N	0.22421	0.69	0.21861	N	0.999506	B	0.06786	0.001	B	0.04013	0.001	D	0.90941	0.4797	10	0.24483	T	0.36	.	15.8605	0.79017	0.0:0.5766:0.4234:0.0	.	7	Q6MZM0	HPHL1_HUMAN	V	7	ENSP00000313699:A7V	ENSP00000313699:A7V	A	+	2	0	HEPHL1	93394202	0.654000	0.27367	0.951000	0.38953	0.952000	0.60782	0.952000	0.29149	0.881000	0.35993	0.655000	0.94253	GCT		0.537	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93754554	C	T	93754554	3	4	9	1	0	0	0	0	1	0	0	0	7055	797	28	2	22	2	HEPHL1	11	93754554	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	32243326	93754554	41251962	68	559											
MMP7	4316	genome.wustl.edu	37	11	102401416	102401416	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr11:102401416G>T	ENST00000260227.4	-	1	68	c.16C>A	c.(16-18)Ctg>Atg	p.L6M		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	6					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L6M(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	ACAGCACACAGCACGGTGAGT	0.542																																																1	Substitution - Missense(1)	ovary(1)	11											70	60	64					11																	102401416		2203	4299	6502	101906626	SO:0001583	missense	4316			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"matrix metalloproteinase 7 (matrilysin, uterine)"	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.16C>A	11.37:g.102401416G>T	ENSP00000260227:p.Leu6Met		101906626	Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086637	0.36855	.	.	ENSG00000137673	ENST00000260227	T	0.28069	1.63	4.98	3.05	0.35203	.	1.418690	0.05052	N	0.478388	T	0.52141	0.1716	M	0.66939	2.045	0.09310	N	1	P;D;P	0.71674	0.91;0.998;0.952	B;D;P	0.62955	0.294;0.909;0.753	T	0.21965	-1.0230	10	0.72032	D	0.01	-0.2883	8.9846	0.35986	0.1872:0.0:0.8128:0.0	.	6;6;6	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	M	6	ENSP00000260227:L6M	ENSP00000260227:L6M	L	-	1	2	MMP7	101906626	0.631000	0.27164	0.018000	0.16275	0.026000	0.11368	1.442000	0.35046	1.211000	0.43351	0.655000	0.94253	CTG		0.542	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			T	102401416	G	T	102401416	3	4	9	1	0	0	0	0	1	0	0	0	9667	962	34	3	811	3	MMP7	11	102401416	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	8646862	102401416	32605100	69	560											
MMP8	4317	genome.wustl.edu	37	11	102593395	102593395	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr11:102593395C>T	ENST00000236826.3	-	2	210	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	38					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.E38K(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TAGAACTTTTCCAGGTAGTCC	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											85	83	84					11																	102593395		2203	4298	6501	102098605	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.112G>A	11.37:g.102593395C>T	ENSP00000236826:p.Glu38Lys		102098605	Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.405|8.405	0.842750|0.842750	0.16963|0.16963	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000236826;ENST00000544383|ENST00000438475	T|.	0.33865|.	1.39|.	5.99|5.99	4.04|4.04	0.47022|0.47022	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);|.	0.547984|.	0.17776|.	N|.	0.162437|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.20574|0.20574	0.59|0.59	0.09310|0.09310	N|N	1|1	B;B|.	0.14438|.	0.01;0.01|.	B;B|.	0.27076|.	0.076;0.074|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.14656|.	T|.	0.56|.	.|.	8.3349|8.3349	0.32208|0.32208	0.0:0.481:0.3898:0.1292|0.0:0.481:0.3898:0.1292	.|.	38;38|.	A8K9E4;P22894|.	.;MMP8_HUMAN|.	K|E	38;15|13	ENSP00000236826:E38K|.	ENSP00000236826:E38K|.	E|G	-|-	1|2	0|0	MMP8|MMP8	102098605|102098605	0.000000|0.000000	0.05858|0.05858	0.067000|0.067000	0.19924|0.19924	0.987000|0.987000	0.75469|0.75469	-0.870000|-0.870000	0.04228|0.04228	0.787000|0.787000	0.33731|0.33731	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.423	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		T	102593395	C	T	102593395	3	4	9	1	0	0	0	0	1	0	0	0	9668	864	30	2	1327	2	MMP8	11	102593395	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	191979	102593395	32413121	70	561											
VPS11	55823	genome.wustl.edu	37	11	118941061	118941061	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr11:118941061C>G	ENST00000300793.6	+	5	629	c.587C>G	c.(586-588)gCa>gGa	p.A196G	VPS11_ENST00000527798.1_3'UTR|RP11-110I1.13_ENST00000607709.1_RNA	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	197					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.A196G(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TTTCGCCAAGCAGGAAAGACC	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											67	68	68					11																	118941061		1948	4137	6085	118446271	SO:0001583	missense	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.587C>G	11.37:g.118941061C>G	ENSP00000475301:p.Ala196Gly		118446271	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37																																																																																					0.507	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		G	118941061	C	G	118941061	3	3	9	1	0	0	0	0	1	0	0	0	17188	710	25	3	603	3	VPS11	11	118941061	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	16347666	118941061	16065455	71	562											
SORL1	6653	genome.wustl.edu	37	11	121461798	121461798	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr11:121461798C>T	ENST00000260197.7	+	31	4431	c.4302C>T	c.(4300-4302)gaC>gaT	p.D1434D	SORL1_ENST00000525532.1_Silent_p.D378D|SORL1_ENST00000527934.1_Silent_p.D49D|SORL1_ENST00000534286.1_Silent_p.D344D|SORL1_ENST00000532694.1_Silent_p.D280D	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1434	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.D1434D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCGTGATGGACACCTGGGTGT	0.572											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	11											215	190	199					11																	121461798		2203	4299	6502	120967008	SO:0001819	synonymous_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4302C>T	11.37:g.121461798C>T		1511	120967008	B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	CCDS8436.1																																																																																				0.572	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		T	121461798	C	T	121461798	2	4	9	1	0	0	0	0	0	0	0	1	14937	477	17	2		2	SORL1	11	121461798	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	2520737	121461798	13544718	72	563											
PZP	5858	genome.wustl.edu	37	12	9355269	9355269	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr12:9355269G>C	ENST00000261336.2	-	3	307	c.279C>G	c.(277-279)atC>atG	p.I93M	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	93					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I93M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAGAGGCTGAGATCCTTGGGA	0.453																																					Melanoma(125;1402 1695 4685 34487 38571)											1	Substitution - Missense(1)	ovary(1)	12											68	69	69					12																	9355269		2203	4300	6503	9246536	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.279C>G	12.37:g.9355269G>C	ENSP00000261336:p.Ile93Met		9246536	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	8.791	0.930602	0.18131	.	.	ENSG00000126838	ENST00000261336	T	0.41758	0.99	2.44	-0.622	0.11560	.	0.838929	0.09940	U	0.736100	T	0.27241	0.0668	L	0.36672	1.1	0.09310	N	1	B	0.15719	0.014	B	0.17098	0.017	T	0.24728	-1.0152	10	0.31617	T	0.26	.	3.0185	0.06067	0.2985:0.2355:0.466:0.0	.	93	P20742	PZP_HUMAN	M	93	ENSP00000261336:I93M	ENSP00000261336:I93M	I	-	3	3	PZP	9246536	0.000000	0.05858	0.001000	0.08648	0.746000	0.42486	-2.257000	0.01180	-0.137000	0.11455	0.460000	0.39030	ATC		0.453	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		C	9355269	G	C	9355269	3	2	9	1	0	0	0	0	1	0	0	0	12872	932	33	3	4305	3	PZP	12	9355269	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09		9355269	124496626	73	564											
SOX5	6660	genome.wustl.edu	37	12	23687162	23687162	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr12:23687162T>A	ENST00000451604.2	-	15	2384	c.2283A>T	c.(2281-2283)caA>caT	p.Q761H	SOX5_ENST00000396007.2_Missense_Mutation_p.Q375H|SOX5_ENST00000546136.1_Missense_Mutation_p.Q748H|SOX5_ENST00000545921.1_Missense_Mutation_p.Q751H|SOX5_ENST00000541536.1_Missense_Mutation_p.Q640H|SOX5_ENST00000309359.1_Missense_Mutation_p.Q748H|SOX5_ENST00000537393.1_Missense_Mutation_p.Q726H|SOX5_ENST00000381381.2_Missense_Mutation_p.Q640H			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	761					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q761H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATCAGTTGGCTTGTCCTGCAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	12											204	179	188					12																	23687162		2203	4300	6503	23578429	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2283A>T	12.37:g.23687162T>A	ENSP00000398273:p.Gln761His		23578429	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.903005	0.52227	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	D;D;D;D;D;D;D;D	0.97138	-4.24;-4.24;-4.23;-4.24;-4.24;-4.23;-4.26;-4.24	5.96	5.96	0.96718	.	0.269957	0.38164	N	0.001785	D	0.95017	0.8387	N	0.22421	0.69	0.30329	N	0.786859	B;D;B	0.61080	0.289;0.989;0.264	B;P;B	0.50708	0.136;0.648;0.264	D	0.93379	0.6742	10	0.72032	D	0.01	.	12.2347	0.54508	0.0:0.0675:0.0:0.9325	.	640;761;375	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	H	748;748;640;761;726;640;375;751	ENSP00000437487:Q748H;ENSP00000308927:Q748H;ENSP00000370788:Q640H;ENSP00000398273:Q761H;ENSP00000439832:Q726H;ENSP00000441973:Q640H;ENSP00000379328:Q375H;ENSP00000443520:Q751H	ENSP00000308927:Q748H	Q	-	3	2	SOX5	23578429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.893000	0.56243	2.285000	0.76669	0.533000	0.62120	CAA		0.423	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		A	23687162	T	A	23687162	3	1	9	1	0	0	0	0	1	0	0	0	14957	1606	56	5	12	5	SOX5	12	23687162	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	14331893	23687162	110164733	74	565											
SLC2A13	114134	genome.wustl.edu	37	12	40223985	40223985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr12:40223985G>T	ENST00000280871.4	-	7	1415	c.1365C>A	c.(1363-1365)taC>taA	p.Y455*		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	455					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.Y436*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TGTTCATCTTGTAGCAGAAAC	0.418										HNSCC(50;0.14)																																						1	Substitution - Nonsense(1)	ovary(1)	12											119	113	115					12																	40223985		2203	4300	6503	38510252	SO:0001587	stop_gained	114134			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1365C>A	12.37:g.40223985G>T	ENSP00000280871:p.Tyr455*		38510252	Q17S07	Nonsense_Mutation	SNP	ENST00000280871.4	37	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	34	5.395630	0.96009	.	.	ENSG00000151229	ENST00000280871	.	.	.	5.72	2.41	0.29592	.	0.059670	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7173	9.0626	0.36444	0.3583:0.0:0.6417:0.0	.	.	.	.	X	455	.	ENSP00000280871:Y455X	Y	-	3	2	SLC2A13	38510252	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.902000	0.28459	0.744000	0.32741	0.591000	0.81541	TAC		0.418	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			T	40223985	G	T	40223985	4	4	9	1	0	0	0	0	0	1	0	0	14545	1372	48	3	597	3	SLC2A13	12	40223985	Nonsense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	16536823	40223985	93627910	75	566											
ANP32D	23519	genome.wustl.edu	37	12	48866782	48866784	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	TAG	TAG	TAG	-	TAG	TAG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr12:48866782_48866784delTAG	ENST00000266594.1	+	1	335_337	c.335_337delTAG	c.(334-339)ttagaa>taa	p.112_113LE>*		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	112						nuclear matrix (GO:0016363)		p.L112_E113>*(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CTGAAAAAGTTAGAAAACCTCGA	0.409																																																1	Complex - deletion inframe(1)	ovary(1)	12																																								47153051	SO:0001651	inframe_deletion	23519			U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"ANP32 acidic nuclear phosphoproteins"	16676	protein-coding gene	gene with protein product	"pp32 related 2"	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.335_337delTAG	12.37:g.48866782_48866784delTAG	ENSP00000266594:p.Leu112_Glu113delins*		47153049	Q6NTC4	In_Frame_Del	DEL	ENST00000266594.1	37	CCDS31788.1																																																																																				0.409	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		-	48866784	TAG	-	48866782	7	5	9	1	0	1	0	1	0	0	0	0	708	1764	61	0	337	0	ANP32D	12	48866782	In_Frame_Del	DEL	TAG	TCGA-04-1347-01A-01W-0488-09	8642797	48866782	84985113	76	567											
NEUROD4	58158	genome.wustl.edu	37	12	55421182	55421182	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr12:55421182G>T	ENST00000242994.3	+	2	1337	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	320					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G320V(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCCCATCATGGTATTGGGACC	0.443																																																1	Substitution - Missense(1)	ovary(1)	12											369	368	368					12																	55421182		2203	4300	6503	53707449	SO:0001583	missense	58158			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.959G>T	12.37:g.55421182G>T	ENSP00000242994:p.Gly320Val		53707449	B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595309	0.28445	.	.	ENSG00000123307	ENST00000242994	D	0.95035	-3.59	5.56	5.56	0.83823	.	0.625803	0.16595	N	0.207561	D	0.89901	0.6849	N	0.19112	0.55	0.52099	D	0.999942	B	0.02656	0.0	B	0.01281	0.0	D	0.84175	0.0436	10	0.30854	T	0.27	-19.1777	17.405	0.87471	0.0:0.0:1.0:0.0	.	320	Q9HD90	NDF4_HUMAN	V	320	ENSP00000242994:G320V	ENSP00000242994:G320V	G	+	2	0	NEUROD4	53707449	0.674000	0.27549	0.861000	0.33841	0.927000	0.56198	1.927000	0.40094	2.790000	0.95986	0.655000	0.94253	GGT		0.443	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			T	55421182	G	T	55421182	3	4	9	1	0	0	0	0	1	0	0	0	10350	1261	44	3	961	3	NEUROD4	12	55421182	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	6554400	55421182	78430713	77	568											
CRADD	8738	genome.wustl.edu	37	12	94072616	94072616	+	Silent	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr12:94072616G>T	ENST00000542893.2	+	2	384	c.66G>T	c.(64-66)gtG>gtT	p.V22V	CRADD_ENST00000332896.3_Silent_p.V22V|CRADD_ENST00000548483.1_Silent_p.V22V|CRADD_ENST00000552983.1_Silent_p.V22V|CRADD_ENST00000552033.1_Silent_p.V22V|CRADD_ENST00000541813.1_Silent_p.V22V			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	22	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)	p.V22V(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						AGGTATTGGTGGAGGGACTGG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	12											78	73	75					12																	94072616		2203	4300	6503	92596747	SO:0001819	synonymous_variant	8738			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"RIP-associated ICH1/CED3-homologous protein with death domain"	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.66G>T	12.37:g.94072616G>T			92596747	B7Z2Q5	Silent	SNP	ENST00000542893.2	37	CCDS9048.1																																																																																				0.488	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		T	94072616	G	T	94072616	2	4	9	1	0	0	0	0	0	0	0	1	3845	1335	47	3		3	CRADD	12	94072616	Silent	SNP	G	TCGA-04-1347-01A-01W-0488-09	38651434	94072616	39779279	78	569											
DNAH10	196385	genome.wustl.edu	37	12	124272389	124272389	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr12:124272389C>A	ENST00000409039.3	+	10	1302	c.1277C>A	c.(1276-1278)gCc>gAc	p.A426D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	426	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A244D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCTTGGAAGCCAGGAACACC	0.597																																																1	Substitution - Missense(1)	ovary(1)	12											51	51	51					12																	124272389		2203	4300	6503	122838342	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1277C>A	12.37:g.124272389C>A	ENSP00000386770:p.Ala426Asp		122838342	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461922	0.63513	.	.	ENSG00000197653	ENST00000409039	T	0.57752	0.38	5.55	5.55	0.83447	Dynein heavy chain, domain-1 (1);	0.163324	0.38058	N	0.001821	T	0.75817	0.3901	M	0.88979	2.995	0.43841	D	0.99642	D	0.55800	0.973	P	0.61874	0.895	T	0.79825	-0.1640	10	0.59425	D	0.04	.	17.677	0.88233	0.0:1.0:0.0:0.0	.	426	Q8IVF4	DYH10_HUMAN	D	426	ENSP00000386770:A426D	ENSP00000386770:A426D	A	+	2	0	DNAH10	122838342	1.000000	0.71417	0.995000	0.50966	0.097000	0.18754	3.847000	0.55895	2.601000	0.87937	0.561000	0.74099	GCC		0.597	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124272389	C	A	124272389	3	1	9	1	0	0	0	0	1	0	0	0	4598	739	26	3	1315	3	DNAH10	12	124272389	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	30199773	124272389	9579506	79	570											
TMEM132D	121256	genome.wustl.edu	37	12	129558863	129558863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr12:129558863C>A	ENST00000422113.2	-	9	3183	c.2857G>T	c.(2857-2859)Gag>Tag	p.E953*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E491*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	953					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E953*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGCTCCTCGAAGGGAACC	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	12											121	108	113					12																	129558863		2203	4300	6503	128124816	SO:0001587	stop_gained	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2857G>T	12.37:g.129558863C>A	ENSP00000408581:p.Glu953*		128124816	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	43	9.955582	0.99304	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	.	.	.	4.14	4.14	0.48551	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.3738	16.7565	0.85501	0.0:1.0:0.0:0.0	.	.	.	.	X	491;953	.	.	E	-	1	0	TMEM132D	128124816	0.324000	0.24652	0.009000	0.14445	0.945000	0.59286	1.066000	0.30604	2.002000	0.58637	0.411000	0.27672	GAG		0.458	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129558863	C	A	129558863	4	1	9	1	0	0	0	0	0	1	0	0	16047	893	31	3	446	3	TMEM132D	12	129558863	Nonsense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	5286474	129558863	4293032	80	571											
MTMR6	9107	genome.wustl.edu	37	13	25831942	25831942	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr13:25831942C>T	ENST00000381801.5	-	8	1662	c.901G>A	c.(901-903)Ggt>Agt	p.G301S	MTMR6_ENST00000540661.1_Missense_Mutation_p.G301S|MTMR6_ENST00000482345.1_5'Flank	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	301	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.G301S(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTCTCCAAACCGGAGTAGAAA	0.383																																																1	Substitution - Missense(1)	ovary(1)	13											73	78	76					13																	25831942		2203	4300	6503	24729942	SO:0001583	missense	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.901G>A	13.37:g.25831942C>T	ENSP00000371221:p.Gly301Ser		24729942	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803973	0.90623	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.91894	-2.93;-2.93	5.49	5.49	0.81192	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	L	0.33339	1.005	0.80722	D	1	D;D	0.61080	0.989;0.982	P;P	0.53313	0.648;0.723	D	0.90740	0.4649	10	0.34782	T	0.22	.	19.3738	0.94501	0.0:1.0:0.0:0.0	.	301;301	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	S	301	ENSP00000443161:G301S;ENSP00000371221:G301S	ENSP00000371221:G301S	G	-	1	0	MTMR6	24729942	1.000000	0.71417	0.955000	0.39395	0.887000	0.51463	5.596000	0.67570	2.577000	0.86979	0.563000	0.77884	GGT		0.383	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		T	25831942	C	T	25831942	3	4	9	1	0	0	0	0	1	0	0	0	9947	652	23	1	992	1	MTMR6	13	25831942	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		25831942	89337936	81	572											
TRIM13	10206	genome.wustl.edu	37	13	50586659	50586659	+	Nonsense_Mutation	SNP	C	C	T	rs374494187		TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr13:50586659C>T	ENST00000378182.3	+	2	1321	c.583C>T	c.(583-585)Caa>Taa	p.Q195*	KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000356017.4_Nonsense_Mutation_p.Q198*|TRIM13_ENST00000457662.2_Nonsense_Mutation_p.Q195*|TRIM13_ENST00000420995.2_Nonsense_Mutation_p.Q195*|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000298772.5_Nonsense_Mutation_p.Q198*	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	195					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q195*(1)		large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CACACTGGATCAAAAGAAGAA	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	13											52	50	50					13																	50586659		2203	4300	6503	49484660	SO:0001587	stop_gained	10206			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.583C>T	13.37:g.50586659C>T	ENSP00000367424:p.Gln195*		49484660	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Nonsense_Mutation	SNP	ENST00000378182.3	37	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	C	36	5.957336	0.97145	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	.	.	.	5.82	5.82	0.92795	.	0.169105	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.7537	20.088	0.97803	0.0:1.0:0.0:0.0	.	.	.	.	X	195;195;195;198;195;198	.	.	Q	+	1	0	TRIM13	49484660	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.667000	0.68067	2.739000	0.93911	0.655000	0.94253	CAA		0.378	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		T	50586659	C	T	50586659	4	4	9	1	0	0	0	0	0	1	0	0	16488	827	29	2	598	2	TRIM13	13	50586659	Nonsense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	24754717	50586659	64583219	82	573											
NALCN	259232	genome.wustl.edu	37	13	101717867	101717867	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr13:101717867C>T	ENST00000251127.6	-	40	4574	c.4493G>A	c.(4492-4494)cGt>cAt	p.R1498H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1498					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R1498H(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGCCTCCCACGCAGTAGCCG	0.572																																																1	Substitution - Missense(1)	ovary(1)	13											103	81	89					13																	101717867		2203	4300	6503	100515868	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4493G>A	13.37:g.101717867C>T	ENSP00000251127:p.Arg1498His		100515868	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	35	5.437212	0.96168	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97923	0.9317	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	D	0.98934	1.0788	10	0.66056	D	0.02	.	19.8625	0.96789	0.0:1.0:0.0:0.0	.	1498	Q8IZF0	NALCN_HUMAN	H	1498	ENSP00000251127:R1498H	ENSP00000251127:R1498H	R	-	2	0	NALCN	100515868	1.000000	0.71417	0.990000	0.47175	0.955000	0.61496	7.487000	0.81328	2.689000	0.91719	0.655000	0.94253	CGT		0.572	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		T	101717867	C	T	101717867	3	4	9	1	0	0	0	0	1	0	0	0	10148	536	19	1	743	1	NALCN	13	101717867	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	51131208	101717867	13452011	83	574											
CPNE6	9362	genome.wustl.edu	37	14	24546493	24546493	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr14:24546493C>G	ENST00000397016.2	+	16	1741	c.1430C>G	c.(1429-1431)tCt>tGt	p.S477C	CPNE6_ENST00000216775.2_Missense_Mutation_p.S477C|CPNE6_ENST00000537691.1_Missense_Mutation_p.S532C	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	477	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.S477C(1)		endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCTGACTTCTCTGACATGCGG	0.637																																																1	Substitution - Missense(1)	ovary(1)	14											111	96	101					14																	24546493		2203	4300	6503	23616333	SO:0001583	missense	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1430C>G	14.37:g.24546493C>G	ENSP00000380211:p.Ser477Cys		23616333	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506743	0.85282	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.23950	1.88;1.88;1.88	5.06	5.06	0.68205	von Willebrand factor, type A (2);	0.000000	0.51477	D	0.000081	T	0.58061	0.2096	M	0.91920	3.255	0.47308	D	0.999386	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.64687	0.927;0.91;0.928	T	0.69273	-0.5188	10	0.87932	D	0	-39.5868	15.9207	0.79570	0.0:1.0:0.0:0.0	.	532;302;477	F5GXN1;B3KWK1;O95741	.;.;CPNE6_HUMAN	C	532;477;477	ENSP00000440077:S532C;ENSP00000380211:S477C;ENSP00000216775:S477C	ENSP00000216775:S477C	S	+	2	0	CPNE6	23616333	1.000000	0.71417	0.948000	0.38648	0.846000	0.48090	3.268000	0.51585	2.347000	0.79759	0.467000	0.42956	TCT		0.637	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			G	24546493	C	G	24546493	3	3	9	1	0	0	0	0	1	0	0	0	3816	913	32	3	1484	3	CPNE6	14	24546493	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		24546493	82803047	84	575											
SEC23A	10484	genome.wustl.edu	37	14	39512066	39512066	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr14:39512066A>G	ENST00000307712.6	-	17	2427	c.1910T>C	c.(1909-1911)cTt>cCt	p.L637P	SEC23A_ENST00000536508.1_Missense_Mutation_p.L535P|SEC23A_ENST00000537403.1_Missense_Mutation_p.L435P|SEC23A_ENST00000545328.2_Missense_Mutation_p.L608P	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	637					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.L637P(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ACTGCTATCAAGAAGAACCGG	0.323																																																1	Substitution - Missense(1)	ovary(1)	14											95	100	98					14																	39512066		2203	4300	6503	38581817	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1910T>C	14.37:g.39512066A>G	ENSP00000306881:p.Leu637Pro		38581817	B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795264	0.70452	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.55	4.41	0.53225	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.86133	0.1576	10	0.87932	D	0	-11.5962	11.7074	0.51605	0.9305:0.0:0.0695:0.0	.	608;535;637	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	P	435;637;535;608	ENSP00000444193:L435P;ENSP00000306881:L637P;ENSP00000437715:L535P;ENSP00000445393:L608P	ENSP00000306881:L637P	L	-	2	0	SEC23A	38581817	1.000000	0.71417	0.988000	0.46212	0.797000	0.45037	9.268000	0.95675	1.038000	0.40049	0.533000	0.62120	CTT		0.323	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			G	39512066	A	G	39512066	3	3	9	1	0	0	0	0	1	0	0	0	13994	72	3	4	403	4	SEC23A	14	39512066	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09	14965573	39512066	67837474	85	576											
SEL1L	6400	genome.wustl.edu	37	14	81964820	81964820	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr14:81964820C>T	ENST00000336735.4	-	9	1026	c.910G>A	c.(910-912)Ggc>Agc	p.G304S		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	304	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G304S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACGCCGATGCCAGCCCAGTAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	14											101	92	95					14																	81964820		2203	4300	6503	81034573	SO:0001583	missense	6400				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.910G>A	14.37:g.81964820C>T	ENSP00000337053:p.Gly304Ser		81034573	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512225	0.96402	.	.	ENSG00000071537	ENST00000336735	T	0.69561	-0.41	4.78	4.78	0.61160	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87888	0.6291	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91702	0.5374	10	0.87932	D	0	-22.8627	18.3645	0.90386	0.0:1.0:0.0:0.0	.	304	Q9UBV2	SE1L1_HUMAN	S	304	ENSP00000337053:G304S	ENSP00000337053:G304S	G	-	1	0	SEL1L	81034573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.085000	0.76875	2.644000	0.89710	0.655000	0.94253	GGC		0.433	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		T	81964820	C	T	81964820	3	4	9	1	0	0	0	0	1	0	0	0	14013	594	21	2	1526	2	SEL1L	14	81964820	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	42452754	81964820	25384720	86	577											
SPINT1	6692	genome.wustl.edu	37	15	41145746	41145746	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr15:41145746G>C	ENST00000344051.4	+	4	897	c.663G>C	c.(661-663)caG>caC	p.Q221H	SPINT1_ENST00000562057.1_Missense_Mutation_p.Q221H|SPINT1_ENST00000431806.1_Missense_Mutation_p.Q221H			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	221					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q221H(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ACCTGTTCCAGCTGACAGTGA	0.582																																																1	Substitution - Missense(1)	ovary(1)	15											74	59	64					15																	41145746		2203	4300	6503	38933038	SO:0001583	missense	6692				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.663G>C	15.37:g.41145746G>C	ENSP00000342098:p.Gln221His		38933038	Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434284	0.62955	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.96716	-4.1;-4.09	5.34	4.41	0.53225	.	0.115715	0.64402	D	0.000009	D	0.98009	0.9344	M	0.85197	2.74	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.991;1.0	D;P;D	0.83275	0.996;0.844;0.993	D	0.98556	1.0639	10	0.87932	D	0	-22.2859	13.0897	0.59160	0.0793:0.0:0.9207:0.0	.	221;221;221	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	H	221;188;221	ENSP00000342098:Q221H;ENSP00000409935:Q221H	ENSP00000342098:Q221H	Q	+	3	2	SPINT1	38933038	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	4.089000	0.57685	1.215000	0.43411	0.491000	0.48974	CAG		0.582	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		C	41145746	G	C	41145746	3	2	9	1	0	0	0	0	1	0	0	0	15070	962	34	3	673	3	SPINT1	15	41145746	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09		41145746	61385646	87	578											
C15orf48	84419	genome.wustl.edu	37	15	45723253	45723253	+	Missense_Mutation	SNP	G	G	C	rs143173357		TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr15:45723253G>C	ENST00000344300.3	+	2	281	c.91G>C	c.(91-93)Gct>Cct	p.A31P	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Missense_Mutation_p.A31P|MIR147B_ENST00000390185.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	31						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A31P(1)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		CTCATCTTTCGCTGTGTATTC	0.413																																																1	Substitution - Missense(1)	ovary(1)	15											191	180	184					15																	45723253		2198	4298	6496	43510545	SO:0001583	missense	84419				CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"normal mucosa of esophagus specific 1"	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.91G>C	15.37:g.45723253G>C	ENSP00000341610:p.Ala31Pro		43510545		Missense_Mutation	SNP	ENST00000344300.3	37	CCDS10124.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637111	0.67130	.	.	ENSG00000166920	ENST00000396650;ENST00000344300	T;T	0.77489	-1.1;-1.1	5.69	4.71	0.59529	.	0.360238	0.29473	N	0.012058	D	0.82384	0.5025	.	.	.	0.09310	N	1	D	0.59767	0.986	P	0.59761	0.863	T	0.74064	-0.3785	9	0.49607	T	0.09	-28.5648	10.4461	0.44495	0.0:0.0:0.7227:0.2773	.	31	Q9C002	NMES1_HUMAN	P	31	ENSP00000379887:A31P;ENSP00000341610:A31P	ENSP00000341610:A31P	A	+	1	0	C15orf48	43510545	0.101000	0.21875	0.167000	0.22817	0.090000	0.18270	1.741000	0.38238	2.702000	0.92279	0.591000	0.81541	GCT		0.413	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413		C	45723253	G	C	45723253	3	2	9	1	0	0	0	0	1	0	0	0	1799	1087	38	3	97	3	C15orf48	15	45723253	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	4577507	45723253	56808139	88	579											
MYEF2	50804	genome.wustl.edu	37	15	48458162	48458162	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr15:48458162C>G	ENST00000324324.7	-	5	772	c.493G>C	c.(493-495)Gat>Cat	p.D165H	MYEF2_ENST00000267836.6_Missense_Mutation_p.D165H	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	165	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D165N(1)|p.D165H(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CCACTAAGATCATATTTGTTC	0.279																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	15											59	73	68					15																	48458162		2185	4251	6436	46245454	SO:0001583	missense	50804			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"RNA binding motif (RRM) containing"	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.493G>C	15.37:g.48458162C>G	ENSP00000316950:p.Asp165His		46245454	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592347	0.86953	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.16457	2.34;2.34	5.66	5.66	0.87406	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	M	0.63169	1.94	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.74674	0.964;0.984	T	0.16276	-1.0408	10	0.72032	D	0.01	-16.1444	19.7302	0.96179	0.0:1.0:0.0:0.0	.	165;165	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	H	165	ENSP00000316950:D165H;ENSP00000267836:D165H	ENSP00000267836:D165H	D	-	1	0	MYEF2	46245454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.726000	0.68515	2.669000	0.90835	0.585000	0.79938	GAT		0.279	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		G	48458162	C	G	48458162	3	3	9	1	0	0	0	0	1	0	0	0	10024	826	29	3	1361	3	MYEF2	15	48458162	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	2734909	48458162	54073230	89	580											
CCPG1	9236	genome.wustl.edu	37	15	55652274	55652274	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr15:55652274A>G	ENST00000310958.6	-	8	1995	c.1697T>C	c.(1696-1698)tTt>tCt	p.F566S	CCPG1_ENST00000569205.1_Missense_Mutation_p.F566S|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.F566S	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	566					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.F566S(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		ATAGTCACTAAAAACTGTTCT	0.358																																																1	Substitution - Missense(1)	ovary(1)	15											138	126	130					15																	55652274		1805	4071	5876	53439566	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1697T>C	15.37:g.55652274A>G	ENSP00000311656:p.Phe566Ser		53439566	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664109	0.29604	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.03524	3.9;3.9	5.45	3.01	0.34805	.	0.692705	0.15947	N	0.236910	T	0.03053	0.0090	N	0.22421	0.69	0.26696	N	0.97126	P;P;P;P	0.41265	0.744;0.744;0.744;0.744	B;B;B;B	0.41510	0.359;0.288;0.359;0.359	T	0.44112	-0.9349	10	0.29301	T	0.29	.	5.6595	0.17660	0.3116:0.1148:0.0:0.5735	.	566;566;566;422	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	S	566	ENSP00000311656:F566S;ENSP00000403400:F566S	ENSP00000311656:F566S	F	-	2	0	DYX1C1	53439566	0.995000	0.38212	0.968000	0.41197	0.801000	0.45260	1.164000	0.31810	0.327000	0.23409	0.533000	0.62120	TTT		0.358	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		G	55652274	A	G	55652274	3	3	9	1	0	0	0	0	1	0	0	0	2938	14	1	4	580	4	CCPG1	15	55652274	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09	7194112	55652274	46879118	90	581											
BNIP2	663	genome.wustl.edu	37	15	59964835	59964835	+	Splice_Site	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr15:59964835C>A	ENST00000607373.1	-	6	778		c.e6+1		BNIP2_ENST00000267859.3_Splice_Site|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Splice_Site	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2						apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)	p.?(1)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TATATACTTACTTAAAAAGAT	0.308																																					Ovarian(174;1936 1978 6671 8240 38212)											1	Unknown(1)	ovary(1)	15											59	63	62					15																	59964835		2190	4290	6480	57752127	SO:0001630	splice_region_variant	663			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"BCL2/adenovirus E1B 19kD-interacting protein 2"			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.575+1G>T	15.37:g.59964835C>A			57752127	B4DS94	Splice_Site	SNP	ENST00000607373.1	37		.	.	.	.	.	.	.	.	.	.	C	22.7	4.325652	0.81580	.	.	ENSG00000140299	ENST00000267859;ENST00000415213;ENST00000439052	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8208	0.96592	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BNIP2	57752127	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.680000	0.91292	0.591000	0.81541	.		0.308	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	NM_004330	Intron	A	59964835	C	A	59964835	5	1	9	1	0	0	0	0	0	0	1	0	1477	579	20	3	388	3	BNIP2	15	59964835	Splice_Site	SNP	C	TCGA-04-1347-01A-01W-0488-09	4312561	59964835	42566557	91	582											
UNC45A	55898	genome.wustl.edu	37	15	91489894	91489894	+	Missense_Mutation	SNP	C	C	T	rs199668693		TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr15:91489894C>T	ENST00000418476.2	+	10	1290	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	UNC45A_ENST00000394275.2_Missense_Mutation_p.T402M	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	417					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.T417M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCCATCCAGACGGTGTCCTGC	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		18673	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	15						C	MET/THR,MET/THR	1,4395	2.1+/-5.4	0,1,2197	43	40	41		1205,1250	5.2	1	15		41	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	UNC45A	NM_001039675.1,NM_018671.3	81,81	0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	402/930,417/945	91489894	2,12990	2198	4298	6496	89290898	SO:0001583	missense	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1250C>T	15.37:g.91489894C>T	ENSP00000407487:p.Thr417Met		89290898	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	CCDS10367.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	28.8	4.947421	0.92593	2.27E-4	1.16E-4	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.48201	0.82;0.82	5.23	5.23	0.72850	Armadillo-like helical (1);Armadillo-type fold (1);	0.046588	0.85682	D	0.000000	T	0.69043	0.3067	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.971	T	0.70547	-0.4842	10	0.56958	D	0.05	-21.8364	19.2173	0.93783	0.0:1.0:0.0:0.0	.	417;402	Q9H3U1;A8K6F7	UN45A_HUMAN;.	M	402;417	ENSP00000377816:T402M;ENSP00000407487:T417M	ENSP00000377816:T402M	T	+	2	0	UNC45A	89290898	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	3.207000	0.51106	2.627000	0.88993	0.456000	0.33151	ACG		0.632	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		T	91489894	C	T	91489894	3	4	9	1	0	0	0	0	1	0	0	0	16988	536	19	1	1288	1	UNC45A	15	91489894	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	31525059	91489894	11041498	92	583											
RNPS1	10921	genome.wustl.edu	37	16	2312306	2312306	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr16:2312306C>T	ENST00000565678.1	-	6	1194	c.649G>A	c.(649-651)Gag>Aag	p.E217K	RNPS1_ENST00000301730.8_Missense_Mutation_p.E217K|RNPS1_ENST00000569598.2_Missense_Mutation_p.E123K|RNPS1_ENST00000566397.1_Missense_Mutation_p.E40K|RNPS1_ENST00000561718.1_Missense_Mutation_p.E40K|RNPS1_ENST00000567147.1_Missense_Mutation_p.E194K|RNPS1_ENST00000320225.5_Missense_Mutation_p.E217K|RNPS1_ENST00000397086.2_Missense_Mutation_p.E217K|AC009065.1_ENST00000454671.1_Missense_Mutation_p.S167L|RNPS1_ENST00000568631.1_Missense_Mutation_p.E217K|RNPS1_ENST00000566458.1_Missense_Mutation_p.E194K			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	217	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E217K(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						AGCGCCTTCTCGGCTTCATCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	16											108	100	103					16																	2312306		2198	4300	6498	2252307	SO:0001583	missense	10921			AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"RNA binding motif (RRM) containing"	10080	protein-coding gene	gene with protein product		606447	"RNA-binding protein S1, serine-rich domain"			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.649G>A	16.37:g.2312306C>T	ENSP00000457723:p.Glu217Lys		2252307	A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	CCDS10465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.457613|3.457613	0.63401|0.63401	.|.	.|.	ENSG00000205937|ENSG00000167970	ENST00000320225;ENST00000397086;ENST00000301730|ENST00000454671	T;T;T|.	0.17528|.	2.27;2.27;2.27|.	5.12|5.12	5.12|5.12	0.69794|0.69794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.226096|.	0.45606|.	D|.	0.000360|.	T|T	0.51312|0.51312	0.1667|0.1667	N|N	0.11756|0.11756	0.17|0.17	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.51449|.	0.945;0.814|.	P;P|.	0.51974|.	0.686;0.564|.	T|T	0.59348|0.59348	-0.7471|-0.7471	10|6	0.49607|0.87932	T|D	0.09|0	.|.	16.1125|16.1125	0.81273|0.81273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	194;217|.	Q15287-2;Q15287|.	.;RNPS1_HUMAN|.	K|L	217|167	ENSP00000315859:E217K;ENSP00000380275:E217K;ENSP00000301730:E217K|.	ENSP00000301730:E217K|ENSP00000402058:S167L	E|S	-|+	1|2	0|0	RNPS1|AC009065.1	2252307|2252307	0.998000|0.998000	0.40836|0.40836	0.967000|0.967000	0.41034|0.41034	0.689000|0.689000	0.40095|0.40095	3.613000|3.613000	0.54152|0.54152	2.680000|2.680000	0.91292|0.91292	0.446000|0.446000	0.29264|0.29264	GAG|TCG		0.522	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		T	2312306	C	T	2312306	3	4	9	1	0	0	0	0	1	0	0	0	13514	893	31	1	280	1	RNPS1	16	2312306	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		2312306	88042447	93	584											
CES1	1066	genome.wustl.edu	37	16	55857572	55857572	+	Silent	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr16:55857572C>A	ENST00000361503.4	-	4	556	c.426G>T	c.(424-426)ggG>ggT	p.G142G	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Silent_p.G143G|CES1_ENST00000422046.2_Silent_p.G142G			P23141	EST1_HUMAN	carboxylesterase 1	142					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.G143G(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CCATCAGCCCCCCTCCGTGGA	0.567																																					NSCLC(162;1801 2756 42904 52896)											1	Substitution - coding silent(1)	ovary(1)	16											78	71	73					16																	55857572		2196	4298	6494	54415073	SO:0001819	synonymous_variant	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.426G>T	16.37:g.55857572C>A			54415073	A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	CCDS45488.1																																																																																				0.567	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		A	55857572	C	A	55857572	2	1	9	1	0	0	0	0	0	0	0	1	3269	610	22	3		3	CES1	16	55857572	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	53545266	55857572	34497181	94	585											
ZFP90	146198	genome.wustl.edu	37	16	68597502	68597502	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr16:68597502A>T	ENST00000570495.1	+	5	1104	c.812A>T	c.(811-813)gAg>gTg	p.E271V	ZFP90_ENST00000398253.2_Missense_Mutation_p.E271V|ZFP90_ENST00000563169.2_Missense_Mutation_p.E271V			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	271					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.E271V(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CAGCTTACTGAGCATCAGAGA	0.443																																																1	Substitution - Missense(1)	ovary(1)	16											91	101	97					16																	68597502		2185	4293	6478	67155003	SO:0001583	missense	146198			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.812A>T	16.37:g.68597502A>T	ENSP00000460547:p.Glu271Val		67155003	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.47|11.47	1.648265|1.648265	0.29336|0.29336	.|.	.|.	ENSG00000184939|ENSG00000184939	ENST00000398253|ENST00000327567	T|.	0.08546|.	3.08|.	5.98|5.98	3.64|3.64	0.41730|0.41730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.13003|0.13003	0.285|0.285	0.09310|0.09310	N|N	1|1	B|.	0.25743|.	0.133|.	B|.	0.26969|.	0.075|.	T|T	0.08743|0.08743	-1.0707|-1.0707	9|6	0.21540|0.38643	T|T	0.41|0.18	-12.7693|-12.7693	3.1421|3.1421	0.06460|0.06460	0.6362:0.1453:0.0788:0.1397|0.6362:0.1453:0.0788:0.1397	.|.	271|.	Q8TF47|.	ZFP90_HUMAN|.	V|C	271|43	ENSP00000381304:E271V|.	ENSP00000381304:E271V|ENSP00000329859:S43C	E|S	+|+	2|1	0|0	ZFP90|ZFP90	67155003|67155003	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	-1.061000|-1.061000	0.03472|0.03472	2.295000|2.295000	0.77249|0.77249	0.524000|0.524000	0.50904|0.50904	GAG|AGC		0.443	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		T	68597502	A	T	68597502	3	4	9	1	0	0	0	0	1	0	0	0	17654	304	11	5	826	5	ZFP90	16	68597502	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09	12739930	68597502	21757251	95	586											
TP53	7157	genome.wustl.edu	37	17	7578204	7578204	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr17:7578204A>T	ENST00000269305.4	-	6	834	c.645T>A	c.(643-645)agT>agA	p.S215R	TP53_ENST00000455263.2_Missense_Mutation_p.S215R|TP53_ENST00000359597.4_Missense_Mutation_p.S215R|TP53_ENST00000445888.2_Missense_Mutation_p.S215R|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.S215R|TP53_ENST00000420246.2_Missense_Mutation_p.S215R	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	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S215R(17)|p.0?(8)|p.?(5)|p.S215S(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)|p.V216fs*6(1)|p.T211_S215delTFRHS(1)|p.S83R(1)|p.D208fs*1(1)|p.S215fs*32(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)|p.S122R(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)	GCACCACCACACTATGTCGAA	0.532		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"	53	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(3)|Substitution - coding silent(2)|Insertion - In frame(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(9)|biliary_tract(5)|large_intestine(5)|bone(5)|breast(5)|stomach(4)|oesophagus(4)|ovary(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(2)|skin(2)|lung(2)|liver(1)|prostate(1)	17	GRCh37	CD941799	TP53	D							124	111	116					17																	7578204		2203	4300	6503	7518929	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.645T>A	17.37:g.7578204A>T	ENSP00000269305:p.Ser215Arg		7518929	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	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061984	0.76187	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2	5.28	-4.05	0.03998	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	0.99806	0.9916	M	0.90705	3.14	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98563	1.0642	10	0.87932	D	0	-18.3023	12.3136	0.54942	0.7185:0.0:0.2815:0.0	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215R;ENSP00000352610:S215R;ENSP00000269305:S215R;ENSP00000398846:S215R;ENSP00000391127:S215R;ENSP00000391478:S215R;ENSP00000425104:S83R;ENSP00000423862:S122R	ENSP00000269305:S215R	S	-	3	2	TP53	7518929	0.000000	0.05858	0.557000	0.28306	0.964000	0.63967	-1.515000	0.02252	-0.649000	0.05430	-0.468000	0.05107	AGT		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578204	A	T	7578204	3	4	9	1	0	0	0	0	1	0	0	0	16381	156	6	5	649	5	TP53	17	7578204	Missense_Mutation	SNP	A	TCGA-04-1347-01A-01W-0488-09		7578204	73617006	96	587											
USP43	124739	genome.wustl.edu	37	17	9631299	9631299	+	Silent	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr17:9631299G>T	ENST00000285199.7	+	15	2460	c.2364G>T	c.(2362-2364)cgG>cgT	p.R788R	USP43_ENST00000570475.1_Silent_p.R783R|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	788					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R789R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTTTGGTACGGGGCGTGAAAG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	17											61	64	63					17																	9631299		2018	4171	6189	9572024	SO:0001819	synonymous_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2364G>T	17.37:g.9631299G>T			9572024	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	CCDS45610.1																																																																																				0.547	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		T	9631299	G	T	9631299	2	4	9	1	0	0	0	0	0	0	0	1	17074	1219	43	3		3	USP43	17	9631299	Silent	SNP	G	TCGA-04-1347-01A-01W-0488-09	2053095	9631299	71563911	97	588											
MYH8	4626	genome.wustl.edu	37	17	10304046	10304046	+	Silent	SNP	T	T	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr17:10304046T>A	ENST00000403437.2	-	27	3490	c.3396A>T	c.(3394-3396)cgA>cgT	p.R1132R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1132					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1132R(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGCTTTGGCTCGGGACGCCC	0.557									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							1	Substitution - coding silent(1)	ovary(1)	17											49	55	53					17																	10304046		2202	4300	6502	10244771	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3396A>T	17.37:g.10304046T>A			10244771	Q14910	Silent	SNP	ENST00000403437.2	37	CCDS11153.1																																																																																				0.557	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10304046	T	A	10304046	2	1	9	1	0	0	0	0	0	0	0	1	10041	1538	54	5		5	MYH8	17	10304046	Silent	SNP	T	TCGA-04-1347-01A-01W-0488-09	672747	10304046	70891164	98	589											
MYH4	4622	genome.wustl.edu	37	17	10363304	10363304	+	Missense_Mutation	SNP	C	C	G	rs267604706		TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr17:10363304C>G	ENST00000255381.2	-	14	1491	c.1381G>C	c.(1381-1383)Ggg>Cgg	p.G461R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	461	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.G461R(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAAGACCCCGATGAAGTAC	0.493																																																1	Substitution - Missense(1)	ovary(1)	17											160	155	157					17																	10363304		2203	4298	6501	10304029	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1381G>C	17.37:g.10363304C>G	ENSP00000255381:p.Gly461Arg		10304029		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189456	0.94923	.	.	ENSG00000141048	ENST00000255381	D	0.94000	-3.33	5.34	5.34	0.76211	Myosin head, motor domain (3);	0.000000	0.37906	U	0.001897	D	0.98779	0.9589	H	0.99976	5.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99041	1.0824	10	0.87932	D	0	.	19.3946	0.94601	0.0:1.0:0.0:0.0	.	461	Q9Y623	MYH4_HUMAN	R	461	ENSP00000255381:G461R	ENSP00000255381:G461R	G	-	1	0	MYH4	10304029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.669000	0.90835	0.650000	0.86243	GGG		0.493	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		G	10363304	C	G	10363304	3	3	9	1	0	0	0	0	1	0	0	0	10037	652	23	3	4546	3	MYH4	17	10363304	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	59258	10363304	70831906	99	590											
KRT25	147183	genome.wustl.edu	37	17	38910189	38910189	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr17:38910189G>T	ENST00000312150.4	-	3	652	c.592C>A	c.(592-594)Ctg>Atg	p.L198M		NM_181534.3	NP_853512.1			keratin 25									p.L198M(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GTTCTGCACAGGGTTATTTCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	17											146	136	140					17																	38910189		2203	4300	6503	36163715	SO:0001583	missense	147183			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.592C>A	17.37:g.38910189G>T	ENSP00000310573:p.Leu198Met		36163715		Missense_Mutation	SNP	ENST00000312150.4	37	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018047	0.54576	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.92099	-2.97	5.92	2.91	0.33838	Filament (1);	0.000000	0.49916	D	0.000127	D	0.92074	0.7488	L	0.41961	1.31	0.36908	D	0.890754	D	0.55605	0.972	D	0.64144	0.922	D	0.90899	0.4767	10	0.54805	T	0.06	.	6.7439	0.23451	0.1997:0.0:0.6747:0.1256	.	198	Q7Z3Z0	K1C25_HUMAN	M	198	ENSP00000310573:L198M	ENSP00000310573:L198M	L	-	1	2	KRT25	36163715	0.043000	0.20138	0.998000	0.56505	0.978000	0.69477	0.303000	0.19210	0.423000	0.26033	-0.218000	0.12543	CTG		0.408	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		T	38910189	G	T	38910189	3	4	9	1	0	0	0	0	1	0	0	0	8462	991	35	3	784	3	KRT25	17	38910189	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	28546885	38910189	42285021	100	591											
DNAI2	64446	genome.wustl.edu	37	17	72285862	72285862	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr17:72285862C>T	ENST00000311014.6	+	5	664	c.597C>T	c.(595-597)taC>taT	p.Y199Y	DNAI2_ENST00000446837.2_Silent_p.Y199Y|DNAI2_ENST00000579490.1_Silent_p.Y256Y|DNAI2_ENST00000307504.5_Silent_p.Y56Y|DNAI2_ENST00000582036.1_Silent_p.Y199Y			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	199					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.Y199Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCGATTCATACATCTGGGACC	0.632									Kartagener syndrome																																							1	Substitution - coding silent(1)	ovary(1)	17											61	58	59					17																	72285862		2203	4300	6503	69797457	SO:0001819	synonymous_variant	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.597C>T	17.37:g.72285862C>T			69797457	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	CCDS11697.1																																																																																				0.632	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		T	72285862	C	T	72285862	2	4	9	1	0	0	0	0	0	0	0	1	4610	489	17	2		2	DNAI2	17	72285862	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	33375673	72285862	8909348	101	592											
RNF213	57674	genome.wustl.edu	37	17	78317686	78317686	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr17:78317686C>G	ENST00000582970.1	+	28	6356	c.6213C>G	c.(6211-6213)ttC>ttG	p.F2071L	RNF213_ENST00000336301.6_Missense_Mutation_p.F144L|RNF213_ENST00000508628.2_Missense_Mutation_p.F2120L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2071					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F144L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTTTCTTTTCAAGCTCCTCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	17											179	160	166					17																	78317686		2203	4300	6503	75932281	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6213C>G	17.37:g.78317686C>G	ENSP00000464087:p.Phe2071Leu		75932281	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748538	0.49257	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.59906	0.23	5.92	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	L	0.36672	1.1	0.34933	D	0.749546	D	0.89917	1.0	D	0.91635	0.999	T	0.75758	-0.3205	10	0.87932	D	0	.	11.2635	0.49097	0.0:0.8603:0.0:0.1397	.	144	Q63HN8	RN213_HUMAN	L	2071;2120;144	ENSP00000338218:F144L	ENSP00000338218:F144L	F	+	3	2	RNF213	75932281	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.432000	0.52824	1.510000	0.48803	0.561000	0.74099	TTC		0.438	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78317686	C	G	78317686	3	3	9	1	0	0	0	0	1	0	0	0	13480	825	29	3	6638	3	RNF213	17	78317686	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	6031824	78317686	2877524	102	593											
RGL3	57139	genome.wustl.edu	37	19	11527320	11527320	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr19:11527320C>T	ENST00000380456.3	-	4	456	c.393G>A	c.(391-393)gcG>gcA	p.A131A	RGL3_ENST00000393423.3_Silent_p.A131A	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	131	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.A131A(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GATCTTGTACCGCTGTCTTCT	0.567																																					GBM(174;751 2067 17998 27979 33959)											1	Substitution - coding silent(1)	ovary(1)	19											115	105	108					19																	11527320		2203	4300	6503	11388320	SO:0001819	synonymous_variant	57139			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.393G>A	19.37:g.11527320C>T			11388320	B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	CCDS32910.1																																																																																				0.567	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		T	11527320	C	T	11527320	2	4	9	1	0	0	0	0	0	0	0	1	13281	639	23	1		1	RGL3	19	11527320	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09		11527320	47601663	103	594											
FKBP8	23770	genome.wustl.edu	37	19	18649133	18649133	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr19:18649133G>C	ENST00000596558.2	-	5	771	c.662C>G	c.(661-663)gCc>gGc	p.A221G	AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.A250G|FKBP8_ENST00000222308.4_Missense_Mutation_p.A221G|FKBP8_ENST00000597960.3_Missense_Mutation_p.A222G|FKBP8_ENST00000608443.1_Missense_Mutation_p.A222G			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	221					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A222G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CTTCCGGTTGGCCAGGGCCAC	0.692																																																1	Substitution - Missense(1)	ovary(1)	19											40	38	38					19																	18649133		2202	4299	6501	18510133	SO:0001583	missense	23770			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.662C>G	19.37:g.18649133G>C	ENSP00000472302:p.Ala221Gly		18510133	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37		.	.	.	.	.	.	.	.	.	.	G	0.295	-0.977555	0.02197	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.55588	0.51;0.51	3.79	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	N	0.20766	0.605	0.80722	D	1	B;B;P;P	0.36909	0.372;0.017;0.573;0.525	B;B;B;B	0.37601	0.089;0.022;0.254;0.084	T	0.11446	-1.0587	10	0.35671	T	0.21	-14.822	10.387	0.44145	0.0972:0.0:0.9028:0.0	.	250;165;221;222	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	G	222;250	ENSP00000222308:A222G;ENSP00000388891:A250G	ENSP00000222308:A222G	A	-	2	0	FKBP8	18510133	1.000000	0.71417	0.997000	0.53966	0.105000	0.19272	7.010000	0.76353	0.812000	0.34326	-0.258000	0.10820	GCC		0.692	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		C	18649133	G	C	18649133	3	2	9	1	0	0	0	0	1	0	0	0	5914	1203	42	3	596	3	FKBP8	19	18649133	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09	7121813	18649133	40479850	104	595											
PHLDB3	653583	genome.wustl.edu	37	19	43990788	43990788	+	Silent	SNP	C	C	T	rs373252899		TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr19:43990788C>T	ENST00000292140.5	-	12	1761	c.1401G>A	c.(1399-1401)gcG>gcA	p.A467A		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	467							enzyme binding (GO:0019899)	p.A467A(1)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCTCCCTCTCCGCCATGGCCT	0.652																																																1	Substitution - coding silent(1)	ovary(1)	19						C		0,4038		0,0,2019	24	27	26		1401	-8	0	19		26	1,8337		0,1,4168	no	coding-synonymous	PHLDB3	NM_198850.3		0,1,6187	TT,TC,CC		0.012,0.0,0.0081		467/641	43990788	1,12375	2019	4169	6188	48682628	SO:0001819	synonymous_variant	653583				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1401G>A	19.37:g.43990788C>T			48682628	Q8N7Z4	Silent	SNP	ENST00000292140.5	37	CCDS12621.2																																																																																				0.652	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			T	43990788	C	T	43990788	2	4	9	1	0	0	0	0	0	0	0	1	11853	639	23	1		1	PHLDB3	19	43990788	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	25341655	43990788	15138195	105	596											
AURKC	6795	genome.wustl.edu	37	19	57746636	57746636	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr19:57746636T>G	ENST00000302804.7	+	7	967	c.781T>G	c.(781-783)Tca>Gca	p.S261A	AURKC_ENST00000415300.2_Missense_Mutation_p.S242A|AURKC_ENST00000448930.1_Missense_Mutation_p.S227A|AURKC_ENST00000599062.1_Missense_Mutation_p.S258A|AURKC_ENST00000598785.1_Missense_Mutation_p.S227A	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.S227A(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GTTTCCACTATCAATGCCTCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	19											72	76	75					19																	57746636		2203	4300	6503	62438448	SO:0001583	missense	6795				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.781T>G	19.37:g.57746636T>G	ENSP00000302898:p.Ser261Ala		62438448	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	T	3.357	-0.131348	0.06753	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.65178	-0.14;-0.14;-0.14	3.88	1.7	0.24286	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.656563	0.15500	N	0.259090	T	0.45538	0.1347	L	0.29908	0.895	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.16722	0.016;0.008;0.006	T	0.28332	-1.0047	10	0.29301	T	0.29	-2.4644	7.6119	0.28135	0.3702:0.0:0.0:0.6298	.	258;261;242	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	A	242;227;261	ENSP00000407162:S242A;ENSP00000406798:S227A;ENSP00000302898:S261A	ENSP00000302898:S261A	S	+	1	0	AURKC	62438448	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.055000	0.11807	0.279000	0.22186	-0.336000	0.08194	TCA		0.512	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		G	57746636	T	G	57746636	3	3	9	1	0	0	0	0	1	0	0	0	1224	1435	50	5	812	5	AURKC	19	57746636	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	13755848	57746636	1382347	106	597											
PAK7	57144	genome.wustl.edu	37	20	9546755	9546755	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr20:9546755G>C	ENST00000378429.3	-	6	1813	c.1267C>G	c.(1267-1269)Cag>Gag	p.Q423E	PAK7_ENST00000353224.5_Missense_Mutation_p.Q423E|PAK7_ENST00000378423.1_Missense_Mutation_p.Q423E	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	423	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q423K(1)|p.Q423E(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGGAGGGCTGCTGGTCGGAG	0.622																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	20											56	58	57					20																	9546755		2203	4300	6503	9494755	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1267C>G	20.37:g.9546755G>C	ENSP00000367686:p.Gln423Glu		9494755	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953083	0.34471	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.72725	-0.68;-0.68;-0.68	5.66	5.66	0.87406	.	0.109437	0.64402	D	0.000004	T	0.60843	0.2300	L	0.28274	0.84	0.58432	D	0.999999	B;B	0.11235	0.004;0.004	B;B	0.12837	0.008;0.008	T	0.54193	-0.8330	9	.	.	.	.	19.7589	0.96306	0.0:0.0:1.0:0.0	.	423;423	B0AZM9;Q9P286	.;PAK7_HUMAN	E	423;423;423;371	ENSP00000367686:Q423E;ENSP00000322957:Q423E;ENSP00000367679:Q423E	.	Q	-	1	0	PAK7	9494755	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.373000	0.66162	2.654000	0.90174	0.585000	0.79938	CAG		0.622	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			C	9546755	G	C	9546755	3	2	9	1	0	0	0	0	1	0	0	0	11405	1328	46	3	916	3	PAK7	20	9546755	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09		9546755	53478765	107	598											
BTBD3	22903	genome.wustl.edu	37	20	11903398	11903398	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr20:11903398C>G	ENST00000405977.1	+	5	1278	c.653C>G	c.(652-654)aCc>aGc	p.T218S	BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000378226.2_Missense_Mutation_p.T218S|BTBD3_ENST00000254977.3_Missense_Mutation_p.T157S|BTBD3_ENST00000399006.2_Missense_Mutation_p.T157S	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	218					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.T218S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TTCCTGGAGACCAGCCTGAGT	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											105	103	104					20																	11903398		2203	4300	6503	11851398	SO:0001583	missense	22903			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.653C>G	20.37:g.11903398C>G	ENSP00000384545:p.Thr218Ser		11851398	D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322187	0.60634	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226;ENST00000455911	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.95	5.02	0.67125	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.35542	1.07	0.80722	D	1	P	0.42827	0.791	P	0.46208	0.507	T	0.02512	-1.1148	10	0.10636	T	0.68	.	14.1156	0.65151	0.0:0.9287:0.0:0.0713	.	218	Q9Y2F9	BTBD3_HUMAN	S	157;157;218;218;107	ENSP00000254977:T157S;ENSP00000381971:T157S;ENSP00000384545:T218S;ENSP00000367471:T218S;ENSP00000408817:T107S	ENSP00000254977:T157S	T	+	2	0	BTBD3	11851398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	1.535000	0.49220	0.650000	0.86243	ACC		0.547	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			G	11903398	C	G	11903398	3	3	9	1	0	0	0	0	1	0	0	0	1544	507	18	3	667	3	BTBD3	20	11903398	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	2356643	11903398	51122122	108	599											
TPX2	22974	genome.wustl.edu	37	20	30358241	30358241	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr20:30358241T>C	ENST00000300403.6	+	6	980	c.452T>C	c.(451-453)aTc>aCc	p.I151T	TPX2_ENST00000340513.4_Missense_Mutation_p.I151T	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	151					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.I151T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTGTAATCATCGATGAAATT	0.388																																																1	Substitution - Missense(1)	ovary(1)	20											102	104	103					20																	30358241		2203	4300	6503	29821902	SO:0001583	missense	22974			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.452T>C	20.37:g.30358241T>C	ENSP00000300403:p.Ile151Thr		29821902	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.827018	0.00584	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.29142	1.58	4.42	-0.89	0.10577	.	0.930262	0.09012	N	0.861392	T	0.12987	0.0315	N	0.14661	0.345	0.09310	N	1	B;B	0.34103	0.437;0.146	B;B	0.30401	0.115;0.038	T	0.26224	-1.0109	10	0.14252	T	0.57	1.6377	4.2809	0.10833	0.0:0.212:0.3884:0.3997	.	151;151	Q96RR5;Q9ULW0	.;TPX2_HUMAN	T	151	ENSP00000341145:I151T	ENSP00000300403:I151T	I	+	2	0	TPX2	29821902	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.025000	0.13577	-0.042000	0.13535	-1.219000	0.01604	ATC		0.388	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			C	30358241	T	C	30358241	3	2	9	1	0	0	0	0	1	0	0	0	16432	1435	50	4	466	4	TPX2	20	30358241	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	18454843	30358241	32667279	109	600											
RNF114	55905	genome.wustl.edu	37	20	48558183	48558183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr20:48558183C>T	ENST00000244061.2	+	2	228	c.226C>T	c.(226-228)Cga>Tga	p.R76*	snoU13_ENST00000459122.1_RNA	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	76					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R76*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						ACCTGGCGTCCGAGCCGTGGA	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	20											113	110	111					20																	48558183		2203	4300	6503	47991590	SO:0001587	stop_gained	55905			AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"RING-type (C3HC4) zinc fingers"	13094	protein-coding gene	gene with protein product		612451	"zinc finger protein 313"	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.226C>T	20.37:g.48558183C>T	ENSP00000244061:p.Arg76*		47991590	B2RDQ9|B4DWY5|E1P627|Q6N0B0	Nonsense_Mutation	SNP	ENST00000244061.2	37	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531105	0.96446	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	.	.	.	6.16	5.15	0.70609	.	0.230899	0.43579	D	0.000542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	0.9536	13.6427	0.62260	0.1975:0.8025:0.0:0.0	.	.	.	.	X	76	.	ENSP00000244061:R76X	R	+	1	2	RNF114	47991590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.852000	0.48310	2.937000	0.99478	0.650000	0.86243	CGA		0.547	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		T	48558183	C	T	48558183	4	4	9	1	0	0	0	0	0	1	0	0	13432	644	23	1	232	1	RNF114	20	48558183	Nonsense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	18199942	48558183	14467337	110	601											
NCAM2	4685	genome.wustl.edu	37	21	22710714	22710714	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr21:22710714C>T	ENST00000400546.1	+	8	1153	c.904C>T	c.(904-906)Cct>Tct	p.P302S	NCAM2_ENST00000535285.1_Missense_Mutation_p.P327S|NCAM2_ENST00000284894.7_Missense_Mutation_p.P160S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	302	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P302S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACAGTACAGCCTCACATAAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	21											52	51	51					21																	22710714		1838	4079	5917	21632585	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.904C>T	21.37:g.22710714C>T	ENSP00000383392:p.Pro302Ser		21632585	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699806	0.88924	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.78126	-1.15;-1.08;0.63	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91788	0.7402	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93456	0.6806	10	0.87932	D	0	-14.2816	18.6141	0.91296	0.0:1.0:0.0:0.0	.	327;160;302	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	S	302;160;327	ENSP00000383392:P302S;ENSP00000284894:P160S;ENSP00000441887:P327S	ENSP00000284894:P160S	P	+	1	0	NCAM2	21632585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.312000	0.65792	2.736000	0.93811	0.591000	0.81541	CCT		0.358	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		T	22710714	C	T	22710714	3	4	9	1	0	0	0	0	1	0	0	0	10203	739	26	2	934	2	NCAM2	21	22710714	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		22710714	25419181	111	602											
APP	351	genome.wustl.edu	37	21	27484437	27484437	+	Silent	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr21:27484437C>A	ENST00000346798.3	-	2	117	c.84G>T	c.(82-84)ctG>ctT	p.L28L	APP_ENST00000448388.2_5'UTR|APP_ENST00000358918.3_Silent_p.L28L|APP_ENST00000439274.2_Intron|APP_ENST00000359726.3_Silent_p.L28L|APP_ENST00000440126.3_Silent_p.L23L|APP_ENST00000354192.3_Intron|APP_ENST00000348990.5_Silent_p.L28L|APP_ENST00000357903.3_Silent_p.L28L|APP_ENST00000474136.1_5'UTR	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	28					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.L28L(1)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GTTCAGCCAGCAGGCCAGCAT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	21											121	107	112					21																	27484437		2203	4300	6503	26406308	SO:0001819	synonymous_variant	351			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.84G>T	21.37:g.27484437C>A			26406308	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	ENST00000346798.3	37	CCDS13576.1																																																																																				0.483	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		A	27484437	C	A	27484437	2	1	9	1	0	0	0	0	0	0	0	1	815	697	25	3		3	APP	21	27484437	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	4773723	27484437	20645458	112	603											
CLDN17	26285	genome.wustl.edu	37	21	31538792	31538792	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr21:31538792T>A	ENST00000286808.3	-	1	179	c.144A>T	c.(142-144)gaA>gaT	p.E48D		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	48					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.E48D(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TCCAGAGCCCTTCCCAGAGCC	0.547																																																1	Substitution - Missense(1)	ovary(1)	21											70	77	75					21																	31538792		2203	4300	6503	30460663	SO:0001583	missense	26285			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"Claudins"	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.144A>T	21.37:g.31538792T>A	ENSP00000286808:p.Glu48Asp		30460663	Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.870970	0.72065	.	.	ENSG00000156282	ENST00000286808	D	0.89123	-2.47	5.22	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	M	0.77313	2.365	0.50171	D	0.999857	D	0.89917	1.0	D	0.85130	0.997	D	0.92100	0.5687	10	0.49607	T	0.09	.	9.0443	0.36336	0.0:0.1509:0.0:0.8491	.	48	P56750	CLD17_HUMAN	D	48	ENSP00000286808:E48D	ENSP00000286808:E48D	E	-	3	2	CLDN17	30460663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.198000	0.32223	1.117000	0.41842	0.533000	0.62120	GAA		0.547	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		A	31538792	T	A	31538792	3	1	9	1	0	0	0	0	1	0	0	0	3478	1606	56	5	534	5	CLDN17	21	31538792	Missense_Mutation	SNP	T	TCGA-04-1347-01A-01W-0488-09	4054355	31538792	16591103	113	604											
TBX1	6899	genome.wustl.edu	37	22	19751755	19751755	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr22:19751755C>T	ENST00000329705.7	+	5	719	c.590C>T	c.(589-591)cCg>cTg	p.P197L	TBX1_ENST00000332710.4_Missense_Mutation_p.P197L|TBX1_ENST00000359500.3_Missense_Mutation_p.P197L	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	197					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)	p.P197L(1)		breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CACTACCACCCGGACTCGCCT	0.662																																																1	Substitution - Missense(1)	ovary(1)	22											71	57	62					22																	19751755		2203	4300	6503	18131755	SO:0001583	missense	6899			AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"T-boxes"	11592	protein-coding gene	gene with protein product		602054	"velocardiofacial syndrome"	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.590C>T	22.37:g.19751755C>T	ENSP00000331176:p.Pro197Leu		18131755	C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249690	0.95305	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.90620	-2.7;-2.7;-2.7	4.75	4.75	0.60458	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.98063	1.0394	10	0.87932	D	0	.	17.418	0.87506	0.0:1.0:0.0:0.0	.	197;197;197	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	L	197	ENSP00000331791:P197L;ENSP00000331176:P197L;ENSP00000352483:P197L	ENSP00000331176:P197L	P	+	2	0	TBX1	18131755	1.000000	0.71417	0.930000	0.37139	0.854000	0.48673	7.798000	0.85924	2.206000	0.71126	0.558000	0.71614	CCG		0.662	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		T	19751755	C	T	19751755	3	4	9	1	0	0	0	0	1	0	0	0	15650	652	23	1	604	1	TBX1	22	19751755	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09		19751755	31552811	114	605											
GGT5	2687	genome.wustl.edu	37	22	24615945	24615945	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chr22:24615945C>A	ENST00000327365.4	-	12	2170	c.1754G>T	c.(1753-1755)gGc>gTc	p.G585V	GGT5_ENST00000263112.7_Missense_Mutation_p.G553V|GGT5_ENST00000398292.3_Missense_Mutation_p.G586V|GGT5_ENST00000418439.2_Missense_Mutation_p.G509V	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	585					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G585V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GTCTTAGTAGCCTGCGGCCTC	0.632																																																1	Substitution - Missense(1)	ovary(1)	22											56	50	52					22																	24615945		2203	4300	6503	22945945	SO:0001583	missense	2687			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1754G>T	22.37:g.24615945C>A	ENSP00000330080:p.Gly585Val		22945945	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	CCDS13825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.351863|2.351863	0.41700|0.41700	.|.	.|.	ENSG00000099998|ENSG00000099998	ENST00000425408|ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	.|T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51	4.65|4.65	3.6|3.6	0.41247|0.41247	.|.	.|0.056003	.|0.64402	.|D	.|0.000001	T|T	0.59059|0.59059	0.2166|0.2166	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;0.999;1.0	T|T	0.66337|0.66337	-0.5949|-0.5949	5|10	.|0.87932	.|D	.|0	-28.1867|-28.1867	11.2842|11.2842	0.49212|0.49212	0.0:0.814:0.186:0.0|0.0:0.814:0.186:0.0	.|.	.|509;553;586;585	.|E7EUG3;P36269-2;Q6GMP0;P36269	.|.;.;.;GGT5_HUMAN	S|V	219|585;553;500;586;509	.|ENSP00000330080:G585V;ENSP00000263112:G553V;ENSP00000381340:G586V;ENSP00000392146:G509V	.|ENSP00000263112:G553V	A|G	-|-	1|2	0|0	GGT5|GGT5	22945945|22945945	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.098000|0.098000	0.18820|0.18820	4.831000|4.831000	0.62752|0.62752	1.232000|1.232000	0.43678|0.43678	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.632	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		A	24615945	C	A	24615945	3	1	9	1	0	0	0	0	1	0	0	0	6362	739	26	3	10	3	GGT5	22	24615945	Missense_Mutation	SNP	C	TCGA-04-1347-01A-01W-0488-09	4864190	24615945	26688621	115	606											
SLC38A5	92745	genome.wustl.edu	37	X	48324676	48324676	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chrX:48324676G>A	ENST00000376876.3	-	6	1196	c.353C>T	c.(352-354)gCa>gTa	p.A118V	SLC38A5_ENST00000376875.1_Missense_Mutation_p.A67V|SLC38A5_ENST00000317669.5_Missense_Mutation_p.A118V			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	118					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)	p.A118V(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						AGGCCCGAATGCCCTCTGTCC	0.647											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	X											35	29	31					X																	48324676		2203	4299	6502	48209620	SO:0001583	missense	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.353C>T	X.37:g.48324676G>A	ENSP00000366073:p.Ala118Val	953	48209620	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	26.6	4.749046	0.89753	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669;ENST00000440085;ENST00000441948;ENST00000413668;ENST00000416711;ENST00000429543	T;T;T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37;4.37;4.37	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	M	0.81682	2.555	0.80722	D	1	P	0.51351	0.944	P	0.60415	0.874	T	0.01781	-1.1275	10	0.41790	T	0.15	.	14.1721	0.65517	0.0:0.0:1.0:0.0	.	118	Q8WUX1	S38A5_HUMAN	V	118;67;118;118;118;118;118;118	ENSP00000366073:A118V;ENSP00000366071:A67V;ENSP00000313740:A118V;ENSP00000402988:A118V;ENSP00000407258:A118V;ENSP00000403976:A118V;ENSP00000389644:A118V;ENSP00000416948:A118V	ENSP00000313740:A118V	A	-	2	0	SLC38A5	48209620	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	9.337000	0.96545	1.918000	0.55548	0.429000	0.28392	GCA		0.647	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		A	48324676	G	A	48324676	3	1	9	1	0	0	0	0	1	0	0	0	14610	1319	46	2	1109	2	SLC38A5	23	48324676	Missense_Mutation	SNP	G	TCGA-04-1347-01A-01W-0488-09		48324676	106945884	116	607											
USP51	158880	genome.wustl.edu	37	X	55513444	55513444	+	Silent	SNP	C	C	T			TCGA-04-1347-01A-01W-0488-09	TCGA-04-1347-11A-01W-0489-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21b50b8c-781a-4e15-a4ad-715f416f0fa2	2655367b-70ac-471d-bcfa-2fbf59e0d4f7	g.chrX:55513444C>T	ENST00000500968.3	-	2	2011	c.1929G>A	c.(1927-1929)gtG>gtA	p.V643V	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	643	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.V643V(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCTCATTGGGCACACAATCTG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	X											109	96	100					X																	55513444		2203	4300	6503	55530169	SO:0001819	synonymous_variant	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1929G>A	X.37:g.55513444C>T			55530169	Q8IWJ8	Silent	SNP	ENST00000500968.3	37	CCDS14370.1																																																																																				0.448	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		T	55513444	C	T	55513444	2	4	9	1	0	0	0	0	0	0	0	1	17083	697	25	2		2	USP51	23	55513444	Silent	SNP	C	TCGA-04-1347-01A-01W-0488-09	7188768	55513444	99757116	117	608											
PADI2	11240	genome.wustl.edu	37	1	17396628	17396628	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr1:17396628G>T	ENST00000375486.4	-	15	1782	c.1719C>A	c.(1717-1719)ttC>ttA	p.F573L	PADI2_ENST00000444885.2_Missense_Mutation_p.F457L|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	573					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.F573L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGTCCATCTTGAACAGAGCGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											146	125	132					1																	17396628		2203	4300	6503	17269215	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1719C>A	1.37:g.17396628G>T	ENSP00000364635:p.Phe573Leu		17269215	Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	CCDS177.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687391	0.88639	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.53206	0.63;0.63	4.6	4.6	0.57074	Protein-arginine deiminase, C-terminal (1);	0.147711	0.64402	D	0.000007	T	0.74199	0.3685	M	0.90870	3.155	0.54753	D	0.999982	D;D	0.71674	0.998;0.984	D;P	0.69654	0.965;0.88	T	0.81357	-0.0969	10	0.87932	D	0	-28.8884	16.5165	0.84302	0.0:0.0:1.0:0.0	.	457;573	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	L	573;457	ENSP00000364635:F573L;ENSP00000405894:F457L	ENSP00000364635:F573L	F	-	3	2	PADI2	17269215	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	3.739000	0.55075	2.527000	0.85204	0.563000	0.77884	TTC		0.592	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			T	17396628	G	T	17396628	3	4	10	1	0	0	0	0	1	0	0	0	11378	1281	45	3	286	3	PADI2	1	17396628	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09		17396628	231853993	1	609											
KIF17	57576	genome.wustl.edu	37	1	21016709	21016709	+	Silent	SNP	C	C	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr1:21016709C>T	ENST00000247986.2	-	7	1663	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.T351T|KIF17_ENST00000400463.3_Silent_p.T451T			Q9P2E2	KIF17_HUMAN	kinesin family member 17	451					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.T451T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCCTCCAGCGTGGACAGCC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	1											56	49	52					1																	21016709		2203	4300	6503	20889296	SO:0001819	synonymous_variant	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1353G>A	1.37:g.21016709C>T			20889296	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																				0.627	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		T	21016709	C	T	21016709	2	4	10	1	0	0	0	0	0	0	0	1	8279	755	27	1		1	KIF17	1	21016709	Silent	SNP	C	TCGA-04-1348-01A-01W-0494-09	3620081	21016709	228233912	2	610											
GCLM	2730	genome.wustl.edu	37	1	94362292	94362292	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr1:94362292T>C	ENST00000370238.3	-	5	668	c.422A>G	c.(421-423)gAg>gGg	p.E141G	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	141					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)	p.E141G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	CTGTAAATGCTCCAAGGAAAG	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											132	129	130					1																	94362292		2203	4300	6503	94134880	SO:0001583	missense	2730			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"gamma-glutamylcysteine synthetase"	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.422A>G	1.37:g.94362292T>C	ENSP00000359258:p.Glu141Gly		94134880	A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	ENST00000370238.3	37	CCDS746.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448419	0.84101	.	.	ENSG00000023909	ENST00000370238	T	0.42513	0.97	5.5	5.5	0.81552	NADP-dependent oxidoreductase domain (3);	0.142642	0.64402	D	0.000006	T	0.36054	0.0953	L	0.41961	1.31	0.51482	D	0.999923	P	0.49559	0.925	P	0.52514	0.701	T	0.05582	-1.0876	10	0.27785	T	0.31	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	141	P48507	GSH0_HUMAN	G	141	ENSP00000359258:E141G	ENSP00000359258:E141G	E	-	2	0	GCLM	94134880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.980000	0.63812	2.219000	0.72066	0.533000	0.62120	GAG		0.423	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	NM_002061		C	94362292	T	C	94362292	3	2	10	1	0	0	0	0	1	0	0	0	6296	1551	54	4	414	4	GCLM	1	94362292	Missense_Mutation	SNP	T	TCGA-04-1348-01A-01W-0494-09	73345583	94362292	154888329	3	611											
WNT3A	89780	genome.wustl.edu	37	1	228210473	228210473	+	Silent	SNP	C	C	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr1:228210473C>T	ENST00000284523.1	+	2	255	c.177C>T	c.(175-177)taC>taT	p.Y59Y	WNT3A_ENST00000366753.2_Silent_p.Y59Y	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	59					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.Y59Y(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCAGGAACTACGTGGAGATCA	0.652																																																1	Substitution - coding silent(1)	ovary(1)	1											54	53	54					1																	228210473		2203	4300	6503	226277096	SO:0001819	synonymous_variant	89780			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.177C>T	1.37:g.228210473C>T			226277096	Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	CCDS1564.1																																																																																				0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		T	228210473	C	T	228210473	2	4	10	1	0	0	0	0	0	0	0	1	17389	547	19	1		1	WNT3A	1	228210473	Silent	SNP	C	TCGA-04-1348-01A-01W-0494-09	133848181	228210473	21040148	4	612											
RAB4A	5867	genome.wustl.edu	37	1	229438689	229438689	+	Missense_Mutation	SNP	G	G	A	rs200242732		TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr1:229438689G>A	ENST00000366690.4	+	7	830	c.622G>A	c.(622-624)Gca>Aca	p.A208T	RAB4A_ENST00000473894.1_3'UTR|SPHAR_ENST00000366688.3_5'Flank	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	208				A -> T (in Ref. 1; AAA60244). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)	p.A208T(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				ACCGCGGCGCGCACAGGCCCC	0.582													G|||	1	0.000199681	0	0	5008	,	,		14492	0.001		0	False		,,,				2504	0				Esophageal Squamous(11;250 603 9619 16563)											1	Substitution - Missense(1)	ovary(1)	1											90	92	91					1																	229438689		2203	4300	6503	227505312	SO:0001583	missense	5867			BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"RAB, member RAS oncogene"	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.622G>A	1.37:g.229438689G>A	ENSP00000355651:p.Ala208Thr		227505312	Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	37	CCDS31050.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.917	0.960053	0.18507	.	.	ENSG00000168118	ENST00000366690	T	0.62941	-0.01	5.74	-0.0113	0.13993	.	0.213333	0.48767	N	0.000178	T	0.33585	0.0868	N	0.14661	0.345	0.20307	N	0.999911	B	0.06786	0.001	B	0.04013	0.001	T	0.13098	-1.0522	10	0.12430	T	0.62	.	4.4231	0.11490	0.1737:0.0:0.3792:0.4471	.	203	P20338	RAB4A_HUMAN	T	208	ENSP00000355651:A208T	ENSP00000355651:A208T	A	+	1	0	RAB4A	227505312	0.998000	0.40836	0.000000	0.03702	0.010000	0.07245	3.143000	0.50608	-0.277000	0.09193	-0.181000	0.13052	GCA		0.582	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		A	229438689	G	A	229438689	3	1	10	1	0	0	0	0	1	0	0	0	12949	1087	38	1	648	1	RAB4A	1	229438689	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09	1228216	229438689	19811932	5	613											
RHOB	388	genome.wustl.edu	37	2	20647606	20647606	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr2:20647606T>G	ENST00000272233.4	+	1	772	c.380T>G	c.(379-381)gTc>gGc	p.V127G		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	127					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V127G(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	GACGAGCATGTCCGCACAGAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	2											71	75	74					2																	20647606		2203	4300	6503	20511087	SO:0001583	missense	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"oncogene RHO H6"	165370	"ras homolog gene family, member B"	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.380T>G	2.37:g.20647606T>G	ENSP00000272233:p.Val127Gly		20511087	B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	T	6.839	0.524031	0.13066	.	.	ENSG00000143878	ENST00000272233	T	0.70631	-0.5	5.4	0.312	0.15837	Small GTP-binding protein domain (1);	0.160917	0.39475	U	0.001354	T	0.65637	0.2710	L	0.52573	1.65	0.80722	D	1	B	0.33345	0.409	B	0.40329	0.326	T	0.62544	-0.6832	10	0.87932	D	0	-26.4826	9.4413	0.38670	0.0:0.2691:0.0:0.7309	.	127	P62745	RHOB_HUMAN	G	127	ENSP00000272233:V127G	ENSP00000272233:V127G	V	+	2	0	RHOB	20511087	1.000000	0.71417	0.011000	0.14972	0.000000	0.00434	3.143000	0.50608	-0.100000	0.12241	-0.899000	0.02877	GTC		0.617	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040		G	20647606	T	G	20647606	3	3	10	1	0	0	0	0	1	0	0	0	13335	1667	58	5	382	5	RHOB	2	20647606	Missense_Mutation	SNP	T	TCGA-04-1348-01A-01W-0494-09		20647606	222551767	6	614											
CAD	790	genome.wustl.edu	37	2	27456286	27456286	+	Missense_Mutation	SNP	G	G	A	rs377122535		TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr2:27456286G>A	ENST00000403525.1	+	19	3053	c.2909G>A	c.(2908-2910)cGg>cAg	p.R970Q	CAD_ENST00000264705.4_Missense_Mutation_p.R1033Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R1033Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCAGTGCCGGGTGCTGGGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	2						G	GLN/ARG	0,4406		0,0,2203	52	51	51		3098	5.6	1	2		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAD	NM_004341.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1033/2226	27456286	1,13005	2203	4300	6503	27309790	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2909G>A	2.37:g.27456286G>A	ENSP00000384510:p.Arg970Gln		27309790	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.664227	0.96745	0.0	1.16E-4	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97352	-4.35;-4.35	5.62	5.62	0.85841	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96331	0.8803	L	0.50919	1.6	0.80722	D	1	P;D	0.60575	0.928;0.988	B;P	0.47102	0.269;0.537	D	0.96629	0.9465	10	0.72032	D	0.01	-2.9139	18.5877	0.91196	0.0:0.0:1.0:0.0	.	970;1033	F8VPD4;P27708	.;PYR1_HUMAN	Q	1033;970	ENSP00000264705:R1033Q;ENSP00000384510:R970Q	ENSP00000264705:R1033Q	R	+	2	0	CAD	27309790	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.300000	0.59079	2.804000	0.96469	0.655000	0.94253	CGG		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			A	27456286	G	A	27456286	3	1	10	1	0	0	0	0	1	0	0	0	2565	1116	39	1	3176	1	CAD	2	27456286	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09	6808680	27456286	215743087	7	615											
ARHGAP25	9938	genome.wustl.edu	37	2	69049513	69049513	+	Silent	SNP	G	G	T	rs370858973		TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr2:69049513G>T	ENST00000295381.3	+	10	1658	c.1239G>T	c.(1237-1239)ccG>ccT	p.P413P	ARHGAP25_ENST00000479844.1_Silent_p.P107P|ARHGAP25_ENST00000409202.3_Silent_p.P414P|ARHGAP25_ENST00000467265.1_Silent_p.P374P|ARHGAP25_ENST00000409030.3_Silent_p.P406P|ARHGAP25_ENST00000409220.1_Silent_p.P407P	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	413					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P407P(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GACAGCAGCCGAGCGATGCGT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	2											106	116	113					2																	69049513		2203	4300	6503	68903017	SO:0001819	synonymous_variant	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1239G>T	2.37:g.69049513G>T			68903017	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	G	6.341	0.431056	0.12045	.	.	ENSG00000163219	ENST00000497259	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.15349	0.0370	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10154	-1.0642	4	.	.	.	.	3.4276	0.07416	0.3607:0.2481:0.3092:0.082	.	.	.	.	L	273	.	.	R	+	2	0	ARHGAP25	68903017	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-2.265000	0.01172	-2.505000	0.00508	-0.350000	0.07774	CGA		0.522	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		T	69049513	G	T	69049513	2	4	10	1	0	0	0	0	0	0	0	1	874	1045	37	3		3	ARHGAP25	2	69049513	Silent	SNP	G	TCGA-04-1348-01A-01W-0494-09	41593227	69049513	174149860	8	616											
YSK4	80122	genome.wustl.edu	37	2	135779370	135779370	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr2:135779370C>T	ENST00000375845.3	-	2	83	c.53G>A	c.(52-54)tGt>tAt	p.C18Y	MAP3K19_ENST00000392917.3_Missense_Mutation_p.C18Y|MAP3K19_ENST00000358371.4_Missense_Mutation_p.C18Y|MAP3K19_ENST00000392918.3_Missense_Mutation_p.C18Y|MAP3K19_ENST00000392915.1_Missense_Mutation_p.C35Y|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.C18Y	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	18							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C18Y(1)									TGTATCATGACAAATGTCAAG	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											146	131	136					2																	135779370		2203	4300	6503	135495840	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.53G>A	2.37:g.135779370C>T	ENSP00000365005:p.Cys18Tyr		135495840	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929403	0.52759	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;D;T;T;T;T	0.85861	-1.24;-2.04;-1.34;-1.38;-1.15;1.09	4.44	2.54	0.30619	.	0.183165	0.26723	N	0.022825	D	0.89213	0.6651	M	0.69823	2.125	0.80722	D	1	D;B;D;B;D;D	0.89917	0.995;0.1;0.997;0.356;0.997;1.0	D;B;D;B;D;D	0.85130	0.986;0.063;0.994;0.127;0.994;0.997	D	0.87654	0.2530	10	0.87932	D	0	.	5.5026	0.16836	0.1968:0.6984:0.0:0.1048	.	18;18;18;35;18;18	B7ZMH9;Q56UN5-3;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	Y	18;18;18;18;18;35	ENSP00000365005:C18Y;ENSP00000351140:C18Y;ENSP00000365004:C18Y;ENSP00000376650:C18Y;ENSP00000376649:C18Y;ENSP00000376647:C35Y	ENSP00000351140:C18Y	C	-	2	0	YSK4	135495840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.886000	0.28241	1.061000	0.40601	0.585000	0.79938	TGT		0.353	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		T	135779370	C	T	135779370	3	4	10	1	0	0	0	0	1	0	0	0	17495	478	17	2	3969	2	YSK4	2	135779370	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09	66729857	135779370	107420003	9	617											
TTN	7273	genome.wustl.edu	37	2	179391846	179391854	+	In_Frame_Del	DEL	TCAGGGTTG	TCAGGGTTG	-	rs267607156|rs370267738		TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	TCAGGGTTG	TCAGGGTTG	TCAGGGTTG	-	TCAGGGTTG	TCAGGGTTG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr2:179391846_179391854delTCAGGGTTG	ENST00000591111.1	-	313	103162_103170	c.102938_102946delCAACCCTGA	c.(102937-102948)acaaccctgatc>atc	p.TTL34313del	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.TTL27014del|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.TTL33386del|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.TTL26889del|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.TTL27081del|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.TTL35954del|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34313	Ig-like 152.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCATGATGATCAGGGTTGTCAGGTCATC	0.45																																																0			2	GRCh37	CM022078	TTN	M																																				179100100	SO:0001651	inframe_deletion	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102938_102946delCAACCCTGA	2.37:g.179391846_179391854delTCAGGGTTG	ENSP00000465570:p.Thr34313_Leu34315del		179100092	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37																																																																																					0.45	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179391854	TCAGGGTTG	-	179391846	7	5	10	1	0	1	0	1	0	0	0	0	16735	1435	50	0	110	0	TTN	2	179391846	In_Frame_Del	DEL	TCAGGGTTG	TCGA-04-1348-01A-01W-0494-09	43612476	179391846	63807527	10	618											
CPS1	1373	genome.wustl.edu	37	2	211421560	211421560	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr2:211421560G>A	ENST00000233072.5	+	1	299	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CPS1_ENST00000430249.2_Missense_Mutation_p.G41S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	35					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.G35S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTCAAGACCTGGCATCAGGCT	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											102	102	102					2																	211421560		2203	4299	6502	211129805	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.103G>A	2.37:g.211421560G>A	ENSP00000233072:p.Gly35Ser		211129805	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465896	0.43839	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000544169;ENST00000536125	D;D;D;D;D	0.97598	-3.2;-3.2;-3.37;-4.45;-4.45	5.77	4.9	0.64082	.	0.340599	0.34200	N	0.004170	D	0.92509	0.7621	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	D	0.88585	0.3139	10	0.21540	T	0.41	-33.6707	11.6494	0.51279	0.0821:0.0:0.9179:0.0	.	45;35	Q59HF8;P31327	.;CPSM_HUMAN	S	35;35;41;41;43;35;35;35	ENSP00000388496:G35S;ENSP00000430697:G35S;ENSP00000430644:G41S;ENSP00000402608:G41S;ENSP00000233072:G35S	ENSP00000233072:G35S	G	+	1	0	CPS1	211129805	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.888000	0.48594	1.426000	0.47256	0.650000	0.86243	GGC		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			A	211421560	G	A	211421560	3	1	10	1	0	0	0	0	1	0	0	0	3823	1348	47	2	127	2	CPS1	2	211421560	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09	32029714	211421560	31777813	11	619											
CPNE9	151835	genome.wustl.edu	37	3	9768379	9768379	+	Missense_Mutation	SNP	G	G	A	rs566993609		TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr3:9768379G>A	ENST00000383832.3	+	19	1565	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	CPNE9_ENST00000383831.3_Missense_Mutation_p.V459I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	459	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V459I(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TATCATTATCGTCGGTGTAGG	0.547																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	3											122	117	119					3																	9768379		1927	4145	6072	9743379	SO:0001583	missense	151835				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1375G>A	3.37:g.9768379G>A	ENSP00000373343:p.Val459Ile		9743379	A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876822	0.72180	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.22945	1.93;1.93	4.4	4.4	0.53042	von Willebrand factor, type A (2);Copine (1);	0.064498	0.64402	D	0.000011	T	0.37489	0.1005	M	0.62723	1.935	0.53688	D	0.999976	P	0.43857	0.819	P	0.48304	0.573	T	0.21759	-1.0236	10	0.45353	T	0.12	.	16.7977	0.85606	0.0:0.0:1.0:0.0	.	459	Q8IYJ1	CPNE9_HUMAN	I	459	ENSP00000373343:V459I;ENSP00000373342:V459I	ENSP00000373342:V459I	V	+	1	0	CPNE9	9743379	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	6.831000	0.75324	2.257000	0.74773	0.460000	0.39030	GTC		0.547	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		A	9768379	G	A	9768379	3	1	10	1	0	0	0	0	1	0	0	0	3819	1145	40	1	1445	1	CPNE9	3	9768379	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09		9768379	188254051	12	620											
SCN10A	6336	genome.wustl.edu	37	3	38755561	38755561	+	Missense_Mutation	SNP	A	A	G	rs147130891		TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr3:38755561A>G	ENST00000449082.2	-	21	3691	c.3692T>C	c.(3691-3693)aTa>aCa	p.I1231T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1231					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1231T(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGTGAGACTTATCAGTGAGAT	0.542																																																1	Substitution - Missense(1)	ovary(1)	3						A	THR/ILE	0,4406		0,0,2203	115	111	112		3692	0	1	3	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SCN10A	NM_006514.2	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1231/1957	38755561	1,13005	2203	4300	6503	38730565	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3692T>C	3.37:g.38755561A>G	ENSP00000390600:p.Ile1231Thr		38730565	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	7.993	0.753712	0.15778	0.0	1.16E-4	ENSG00000185313	ENST00000449082	D	0.98762	-5.12	4.23	-0.0297	0.13917	Ion transport (1);	0.235349	0.39083	N	0.001474	D	0.96765	0.8944	M	0.75264	2.295	0.24603	N	0.993764	B	0.02656	0.0	B	0.04013	0.001	D	0.92755	0.6219	10	0.48119	T	0.1	.	7.1393	0.25546	0.6942:0.0:0.3058:0.0	.	1231	Q9Y5Y9	SCNAA_HUMAN	T	1231	ENSP00000390600:I1231T	ENSP00000390600:I1231T	I	-	2	0	SCN10A	38730565	0.001000	0.12720	0.998000	0.56505	0.440000	0.31957	1.402000	0.34600	0.101000	0.17610	-0.516000	0.04426	ATA		0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		G	38755561	A	G	38755561	3	3	10	1	0	0	0	0	1	0	0	0	13915	449	16	4	2206	4	SCN10A	3	38755561	Missense_Mutation	SNP	A	TCGA-04-1348-01A-01W-0494-09	28987182	38755561	159266869	13	621											
LAMB2	3913	genome.wustl.edu	37	3	49166233	49166233	+	Missense_Mutation	SNP	C	C	T	rs544982873		TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr3:49166233C>T	ENST00000418109.1	-	15	1915	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R584H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	584	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R584H(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTCACCAGGCGCTCCACCAC	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		18550	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3											55	62	60					3																	49166233		2203	4300	6503	49141237	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1751G>A	3.37:g.49166233C>T	ENSP00000388325:p.Arg584His		49141237	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582871	0.96578	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.37058	1.22;1.22	5.04	5.04	0.67666	Laminin IV (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68334	-0.5436	10	0.49607	T	0.09	.	17.9928	0.89174	0.0:1.0:0.0:0.0	.	584	P55268	LAMB2_HUMAN	H	584	ENSP00000388325:R584H;ENSP00000307156:R584H	ENSP00000307156:R584H	R	-	2	0	LAMB2	49141237	0.997000	0.39634	0.992000	0.48379	0.778000	0.44026	3.609000	0.54117	2.348000	0.79779	0.561000	0.74099	CGC		0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		T	49166233	C	T	49166233	3	4	10	1	0	0	0	0	1	0	0	0	8611	768	27	1	3721	1	LAMB2	3	49166233	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09	10410672	49166233	148856197	14	622											
GAP43	2596	genome.wustl.edu	37	3	115439656	115439656	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr3:115439656C>T	ENST00000305124.6	+	3	1010	c.644C>T	c.(643-645)aCc>aTc	p.T215I	GAP43_ENST00000393780.3_Missense_Mutation_p.T251I	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	215					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T215I(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GTAGATGAAACCAAACCTAAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											197	207	203					3																	115439656		2203	4300	6503	116922346	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.644C>T	3.37:g.115439656C>T	ENSP00000305010:p.Thr215Ile		116922346	A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449795	0.63290	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.59502	0.26;0.26	5.7	5.7	0.88788	Neuromodulin (GAP-43), C-terminal (1);	0.226724	0.36444	N	0.002599	T	0.68632	0.3022	L	0.38175	1.15	0.51012	D	0.999904	D;D	0.63880	0.993;0.993	D;P	0.65874	0.939;0.836	T	0.68565	-0.5375	10	0.54805	T	0.06	-3.9186	19.8298	0.96631	0.0:1.0:0.0:0.0	.	251;215	A8K0Y4;P17677	.;NEUM_HUMAN	I	215;251	ENSP00000305010:T215I;ENSP00000377372:T251I	ENSP00000305010:T215I	T	+	2	0	GAP43	116922346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.677000	0.68142	2.687000	0.91594	0.591000	0.81541	ACC		0.443	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		T	115439656	C	T	115439656	3	4	10	1	0	0	0	0	1	0	0	0	6235	507	18	2	796	2	GAP43	3	115439656	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09	66273423	115439656	82582774	15	623											
ADCY5	111	genome.wustl.edu	37	3	123008730	123008730	+	Silent	SNP	G	G	A	rs375437829		TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr3:123008730G>A	ENST00000462833.1	-	19	4611	c.3399C>T	c.(3397-3399)tcC>tcT	p.S1133S	ADCY5_ENST00000491190.1_Silent_p.S791S|ADCY5_ENST00000309879.5_Silent_p.S783S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1133	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.S1133S(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGTTGAGGCCGGAGGCAGCCA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	3						G	,	0,4406		0,0,2203	126	107	114		2349,3399	-10.3	0	3		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	783/912,1133/1262	123008730	1,13005	2203	4300	6503	124491420	SO:0001819	synonymous_variant	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3399C>T	3.37:g.123008730G>A			124491420	B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	CCDS3022.1																																																																																				0.557	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		A	123008730	G	A	123008730	2	1	10	1	0	0	0	0	0	0	0	1	297	1103	39	1		1	ADCY5	3	123008730	Silent	SNP	G	TCGA-04-1348-01A-01W-0494-09	7569074	123008730	75013700	16	624											
ZNF595	152687	genome.wustl.edu	37	4	59360	59360	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr4:59360C>A	ENST00000509152.2	+	2	226	c.41C>A	c.(40-42)tCc>tAc	p.S14Y	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.S14Y			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATAGAATTCTCCCCTGAAGAG	0.428																																																0			4											356	386	376					4																	59360		2203	4300	6503	49360	SO:0001583	missense	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.41C>A	4.37:g.59360C>A	ENSP00000434858:p.Ser14Tyr		49360		Missense_Mutation	SNP	ENST00000509152.2	37		.	.	.	.	.	.	.	.	.	.	C	14.46	2.543068	0.45280	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.02944	4.1;4.1	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.10981	0.0268	.	.	.	0.22500	N	0.999048	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.08249	-1.0731	8	0.87932	D	0	.	7.9738	0.30143	0.0:1.0:0.0:0.0	.	14;14	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	Y	14	ENSP00000434858:S14Y;ENSP00000437878:S14Y	ENSP00000434858:S14Y	S	+	2	0	ZNF595	49360	0.019000	0.18553	0.346000	0.25655	0.196000	0.23810	1.241000	0.32743	0.655000	0.30866	0.484000	0.47621	TCC		0.428	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		A	59360	C	A	59360	3	1	10	1	0	0	0	0	1	0	0	0	18025	855	30	3	47	3	ZNF595	4	59360	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09		59360	191094916	17	625											
ADH6	130	genome.wustl.edu	37	4	100131627	100131630	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	-	-	-	ACTG	ACTG	ACTG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr4:100131627_100131630delACTG	ENST00000237653.7	-	4	676_679	c.292_295delCAGT	c.(292-297)cagtgtfs	p.QC98fs	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394897.1_Frame_Shift_Del_p.QC98fs|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Frame_Shift_Del_p.QC98fs|ADH6_ENST00000504257.1_5'Flank|ADH6_ENST00000407820.2_5'UTR	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	98					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.Q98fs*8(1)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CATTCTCCACACTGTGGCAGAAAG	0.299																																																1	Deletion - Frameshift(1)	ovary(1)	4																																								100350653	SO:0001589	frameshift_variant	130			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.292_295delCAGT	4.37:g.100131627_100131630delACTG	ENSP00000237653:p.Gln98fs		100350650	B3KS45|Q58F53	Frame_Shift_Del	DEL	ENST00000237653.7	37	CCDS3647.1																																																																																				0.299	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		-	100131630	ACTG	-	100131627	7	5	10	1	0	1	0	1	0	0	0	0	312	159	6	0	860	0	ADH6	4	100131627	Frame_Shift_Del	DEL	ACTG	TCGA-04-1348-01A-01W-0494-09	100072267	100131627	91022649	18	626											
HHIP	64399	genome.wustl.edu	37	4	145629388	145629388	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr4:145629388C>A	ENST00000296575.3	+	7	1881	c.1226C>A	c.(1225-1227)cCa>cAa	p.P409Q		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	409					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.P409Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TATTCCATACCAAGGAGCAAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	4											145	115	125					4																	145629388		2203	4300	6503	145848838	SO:0001583	missense	64399			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1226C>A	4.37:g.145629388C>A	ENSP00000296575:p.Pro409Gln		145848838	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203320	0.95033	.	.	ENSG00000164161	ENST00000296575	T	0.20332	2.08	5.93	5.93	0.95920	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69986	-0.4996	10	0.87932	D	0	-13.8234	20.3398	0.98759	0.0:1.0:0.0:0.0	.	409	Q96QV1	HHIP_HUMAN	Q	409	ENSP00000296575:P409Q	ENSP00000296575:P409Q	P	+	2	0	HHIP	145848838	1.000000	0.71417	0.342000	0.25602	0.995000	0.86356	7.487000	0.81328	2.811000	0.96726	0.557000	0.71058	CCA		0.512	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			A	145629388	C	A	145629388	3	1	10	1	0	0	0	0	1	0	0	0	7092	594	21	3	1252	3	HHIP	4	145629388	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09	45497761	145629388	45524888	19	627											
FAF2	23197	genome.wustl.edu	37	5	175921229	175921229	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr5:175921229G>A	ENST00000261942.6	+	7	667	c.614G>A	c.(613-615)aGg>aAg	p.R205K		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	205					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.R205K(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATAAACACTAGGATGCTCTTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											154	144	148					5																	175921229		2203	4300	6503	175853835	SO:0001583	missense	23197			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.614G>A	5.37:g.175921229G>A	ENSP00000261942:p.Arg205Lys		175853835	O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	CCDS34296.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.61|13.61	2.289509|2.289509	0.40494|0.40494	.|.	.|.	ENSG00000113194|ENSG00000113194	ENST00000261942|ENST00000540174	T|.	0.42513|.	0.97|.	5.36|5.36	4.49|4.49	0.54785|0.54785	UAS (1);|.	0.087322|.	0.85682|.	D|.	0.000000|.	T|T	0.62208|0.62208	0.2409|0.2409	M|M	0.62723|0.62723	1.935|1.935	0.43808|0.43808	D|D	0.996365|0.996365	B|.	0.22800|.	0.075|.	B|.	0.24701|.	0.055|.	T|T	0.59026|0.59026	-0.7531|-0.7531	10|6	0.40728|0.02654	T|T	0.16|1	-7.9639|-7.9639	14.1547|14.1547	0.65410|0.65410	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	205|.	Q96CS3|.	FAF2_HUMAN|.	K|N	205|205	ENSP00000261942:R205K|.	ENSP00000261942:R205K|ENSP00000445238:S205N	R|S	+|+	2|2	0|0	FAF2|FAF2	175853835|175853835	1.000000|1.000000	0.71417|0.71417	0.777000|0.777000	0.31699|0.31699	0.684000|0.684000	0.39900|0.39900	5.119000|5.119000	0.64679|0.64679	1.392000|1.392000	0.46585|0.46585	0.650000|0.650000	0.86243|0.86243	AGG|AGT		0.408	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		A	175921229	G	A	175921229	3	1	10	1	0	0	0	0	1	0	0	0	5370	1000	35	2	640	2	FAF2	5	175921229	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09		175921229	4994031	20	628											
MLLT4	4301	genome.wustl.edu	37	6	168352133	168352133	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr6:168352133A>G	ENST00000447894.2	+	29	4078	c.4078A>G	c.(4078-4080)Atc>Gtc	p.I1360V	MLLT4_ENST00000392112.1_Missense_Mutation_p.I1343V|MLLT4_ENST00000366806.2_Missense_Mutation_p.I1360V|MLLT4_ENST00000351017.4_Missense_Mutation_p.I1367V|MLLT4_ENST00000392108.3_Missense_Mutation_p.I1360V|MLLT4_ENST00000344191.4_Missense_Mutation_p.I1360V|MLLT4_ENST00000400822.3_Missense_Mutation_p.I1359V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1360	Pro-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.I1344V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCCCAGCCAATCCGAACAGA	0.612			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	1	Substitution - Missense(1)	ovary(1)	6											53	69	63					6																	168352133		2202	4298	6500	168094982	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4078A>G	6.37:g.168352133A>G	ENSP00000404595:p.Ile1360Val		168094982	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	A	0.032	-1.328090	0.01309	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04049	3.92;3.82;3.92;3.92;3.72;3.82;3.82	5.3	-10.6	0.00265	.	0.911809	0.09555	N	0.786351	T	0.00440	0.0014	N	0.13043	0.29	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.45702	-0.9243	10	0.02654	T	1	-23.1464	5.2962	0.15754	0.2064:0.283:0.4185:0.0921	.	1360;1359;1360;1344	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	V	1360;1367;1360;1360;1343;1360;1359;1360	ENSP00000341118:I1360V;ENSP00000252692:I1367V;ENSP00000375956:I1360V;ENSP00000355771:I1360V;ENSP00000375960:I1343V;ENSP00000383623:I1359V;ENSP00000404595:I1360V	ENSP00000345834:I1360V	I	+	1	0	MLLT4	168094982	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	0.460000	0.21924	-2.771000	0.00365	-2.300000	0.00261	ATC		0.612	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		G	168352133	A	G	168352133	3	3	10	1	0	0	0	0	1	0	0	0	9629	101	4	4	4192	4	MLLT4	6	168352133	Missense_Mutation	SNP	A	TCGA-04-1348-01A-01W-0494-09		168352133	2762934	21	629											
STARD3NL	83930	genome.wustl.edu	37	7	38256633	38256633	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr7:38256633C>T	ENST00000009041.7	+	5	646	c.389C>T	c.(388-390)aCg>aTg	p.T130M	STARD3NL_ENST00000434197.1_Intron|STARD3NL_ENST00000544203.1_Missense_Mutation_p.T123M|STARD3NL_ENST00000396013.1_Missense_Mutation_p.T130M	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	130	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.T130M(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CAGTTGACAACGGCAGTGACC	0.478																																																1	Substitution - Missense(1)	ovary(1)	7											298	259	272					7																	38256633		2203	4300	6503	38223158	SO:0001583	missense	83930			AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.389C>T	7.37:g.38256633C>T	ENSP00000009041:p.Thr130Met		38223158	A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884854	0.91814	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.79	5.79	0.91817	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83524	0.0087	10	0.66056	D	0.02	-19.5212	18.8126	0.92064	0.0:1.0:0.0:0.0	.	130	O95772	MENTO_HUMAN	M	130;123;130;130;130;130	ENSP00000009041:T130M;ENSP00000439436:T123M;ENSP00000379334:T130M;ENSP00000411933:T130M;ENSP00000395455:T130M;ENSP00000402028:T130M	ENSP00000009041:T130M	T	+	2	0	STARD3NL	38223158	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.202000	0.77856	2.739000	0.93911	0.655000	0.94253	ACG		0.478	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			T	38256633	C	T	38256633	3	4	10	1	0	0	0	0	1	0	0	0	15260	536	19	1	403	1	STARD3NL	7	38256633	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09		38256633	120882030	22	630											
ANGPT1	284	genome.wustl.edu	37	8	108348477	108348477	+	5'UTR	SNP	A	A	G			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr8:108348477A>G	ENST00000520734.1	-	0	161				ANGPT1_ENST00000520052.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.L159P(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTGTATCTCAAGTCGAGAAGT	0.318																																																1	Substitution - Missense(1)	ovary(1)	8											81	75	77					8																	108348477		2201	4300	6501	108417653	SO:0001623	5_prime_UTR_variant	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.-125T>C	8.37:g.108348477A>G			108417653	Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37		.	.	.	.	.	.	.	.	.	.	A	24.5	4.543876	0.86022	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	T;T	0.45276	0.9;0.9	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.60286	-0.7293	10	0.34782	T	0.22	.	15.6906	0.77450	1.0:0.0:0.0:0.0	.	159;159	Q5HYA0;Q15389	.;ANGP1_HUMAN	P	159	ENSP00000428340:L159P;ENSP00000297450:L159P	ENSP00000297450:L159P	L	-	2	0	ANGPT1	108417653	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.095000	0.94175	2.187000	0.69744	0.533000	0.62120	CTT		0.318	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		G	108348477	A	G	108348477	1	3	10	0	1	0	0	0	0	0	0	0	610	72	3	4		4	ANGPT1	8	108348477	5'UTR	SNP	A	TCGA-04-1348-01A-01W-0494-09		108348477	38015545	23	631											
OR56A1	120796	genome.wustl.edu	37	11	6048547	6048547	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr11:6048547A>C	ENST00000316650.5	-	1	424	c.388T>G	c.(388-390)Tat>Gat	p.Y130D		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y130D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCCACATAACGGTCATAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											126	105	112					11																	6048547		2201	4296	6497	6005123	SO:0001583	missense	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.388T>G	11.37:g.6048547A>C	ENSP00000321246:p.Tyr130Asp		6005123	B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216455	0.39201	.	.	ENSG00000180934	ENST00000316650	T	0.57752	0.38	4.16	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.192286	0.25388	N	0.031035	T	0.79857	0.4518	H	0.96239	3.79	0.36010	D	0.837973	D	0.89917	1.0	D	0.91635	0.999	D	0.88524	0.3098	10	0.87932	D	0	.	12.4382	0.55610	1.0:0.0:0.0:0.0	.	130	Q8NGH5	O56A1_HUMAN	D	130	ENSP00000321246:Y130D	ENSP00000321246:Y130D	Y	-	1	0	OR56A1	6005123	0.998000	0.40836	0.989000	0.46669	0.003000	0.03518	7.255000	0.78338	1.867000	0.54127	0.533000	0.62120	TAT		0.507	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		C	6048547	A	C	6048547	3	2	10	1	0	0	0	0	1	0	0	0	11133	362	13	5	572	5	OR56A1	11	6048547	Missense_Mutation	SNP	A	TCGA-04-1348-01A-01W-0494-09		6048547	128957969	24	632											
VEZT	55591	genome.wustl.edu	37	12	95694103	95694103	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr12:95694103G>C	ENST00000436874.1	+	12	2099	c.1994G>C	c.(1993-1995)tGt>tCt	p.C665S	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.C617S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	665					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.C665S(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GAGTATTTATGTGAAAACTCT	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											38	36	37					12																	95694103		1840	4093	5933	94218234	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1994G>C	12.37:g.95694103G>C	ENSP00000410083:p.Cys665Ser		94218234	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	5.883	0.346982	0.11126	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.13901	2.55;2.55;2.55	6.02	3.03	0.35002	.	0.364504	0.37393	N	0.002116	T	0.10423	0.0255	L	0.56769	1.78	0.30763	N	0.74386	B	0.14805	0.011	B	0.11329	0.006	T	0.10823	-1.0613	10	0.18276	T	0.48	-39.0807	1.7826	0.03035	0.2234:0.1447:0.4825:0.1494	.	665	Q9HBM0	VEZA_HUMAN	S	665;617;621;665	ENSP00000410083:C665S;ENSP00000261219:C617S;ENSP00000380894:C621S	ENSP00000261219:C617S	C	+	2	0	VEZT	94218234	0.997000	0.39634	0.997000	0.53966	0.788000	0.44548	0.274000	0.18680	1.553000	0.49476	0.650000	0.86243	TGT		0.338	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		C	95694103	G	C	95694103	3	2	10	1	0	0	0	0	1	0	0	0	17156	1377	48	3	2040	3	VEZT	12	95694103	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09		95694103	38157792	25	633											
SLC17A8	246213	genome.wustl.edu	37	12	100784850	100784850	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr12:100784850G>A	ENST00000323346.5	+	3	739	c.426G>A	c.(424-426)atG>atA	p.M142I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.M142I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	142					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.M142I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GCTATATTATGACACAAATTC	0.373																																																1	Substitution - Missense(1)	ovary(1)	12											123	125	124					12																	100784850		2203	4300	6503	99308981	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.426G>A	12.37:g.100784850G>A	ENSP00000316909:p.Met142Ile		99308981	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	6.234	0.411278	0.11812	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.52295	0.67;0.67	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.120360	0.56097	D	0.000029	T	0.10208	0.0250	N	0.00060	-2.34	0.30265	N	0.792776	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20174	-1.0283	10	0.11182	T	0.66	.	8.477	0.33018	0.0767:0.0:0.769:0.1542	.	142;142	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	142	ENSP00000316909:M142I;ENSP00000376715:M142I	ENSP00000316909:M142I	M	+	3	0	SLC17A8	99308981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.537000	0.36083	2.610000	0.88304	0.655000	0.94253	ATG		0.373	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		A	100784850	G	A	100784850	3	1	10	1	0	0	0	0	1	0	0	0	14426	1290	45	2	436	2	SLC17A8	12	100784850	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09	5090747	100784850	33067045	26	634											
NBEA	26960	genome.wustl.edu	37	13	35630261	35630261	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr13:35630261A>T	ENST00000400445.3	+	7	1621	c.1087A>T	c.(1087-1089)Aat>Tat	p.N363Y	NBEA_ENST00000379939.2_Missense_Mutation_p.N363Y|NBEA_ENST00000310336.4_Missense_Mutation_p.N363Y|NBEA_ENST00000540320.1_Missense_Mutation_p.N363Y	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	363					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.N363Y(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTTAACACAAATGATGTAAG	0.318																																																1	Substitution - Missense(1)	ovary(1)	13											165	154	158					13																	35630261		1847	4090	5937	34528261	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1087A>T	13.37:g.35630261A>T	ENSP00000383295:p.Asn363Tyr		34528261	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471243	0.84533	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	L	0.55990	1.75	0.80722	D	1	D	0.61697	0.99	P	0.62298	0.9	T	0.76077	-0.3091	10	0.87932	D	0	.	14.2302	0.65887	1.0:0.0:0.0:0.0	.	363	Q5T321	.	Y	363	ENSP00000440951:N363Y;ENSP00000383295:N363Y;ENSP00000369271:N363Y;ENSP00000308534:N363Y	ENSP00000308534:N363Y	N	+	1	0	NBEA	34528261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	1.837000	0.53436	0.460000	0.39030	AAT		0.318	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	35630261	A	T	35630261	3	4	10	1	0	0	0	0	1	0	0	0	10187	14	1	5	1113	5	NBEA	13	35630261	Missense_Mutation	SNP	A	TCGA-04-1348-01A-01W-0494-09		35630261	79539617	27	635											
ARID4A	5926	genome.wustl.edu	37	14	58814591	58814591	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr14:58814591C>G	ENST00000355431.3	+	15	1772	c.1399C>G	c.(1399-1401)Ccg>Gcg	p.P467A	ARID4A_ENST00000348476.3_Missense_Mutation_p.P467A|ARID4A_ENST00000395168.3_Missense_Mutation_p.P467A|ARID4A_ENST00000431317.2_Missense_Mutation_p.P467A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	467					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P467A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTAAAATCTCCGAGGGTGAG	0.294																																																1	Substitution - Missense(1)	ovary(1)	14											57	60	59					14																	58814591		2203	4299	6502	57884344	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1399C>G	14.37:g.58814591C>G	ENSP00000347602:p.Pro467Ala		57884344	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184118	0.38609	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.39592	1.07;2.43;2.45;2.43;2.42	5.54	4.65	0.58169	.	0.070343	0.56097	D	0.000025	T	0.53802	0.1819	L	0.36672	1.1	0.58432	D	0.999996	D;P;D	0.89917	1.0;0.642;1.0	D;B;D	0.91635	0.998;0.137;0.999	T	0.53070	-0.8490	10	0.44086	T	0.13	-3.7822	14.336	0.66589	0.0:0.9288:0.0:0.0712	.	467;467;467	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	A	467;467;467;467;145	ENSP00000347602:P467A;ENSP00000344556:P467A;ENSP00000378597:P467A;ENSP00000397368:P467A;ENSP00000416053:P145A	ENSP00000344556:P467A	P	+	1	0	ARID4A	57884344	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.059000	0.76684	1.343000	0.45638	-0.142000	0.14014	CCG		0.294	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		G	58814591	C	G	58814591	3	3	10	1	0	0	0	0	1	0	0	0	919	855	30	3	1453	3	ARID4A	14	58814591	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09		58814591	48534949	28	636											
GPHN	10243	genome.wustl.edu	37	14	67635728	67635728	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr14:67635728C>T	ENST00000315266.5	+	20	3076	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	GPHN_ENST00000478722.1_Missense_Mutation_p.P685L|GPHN_ENST00000305960.9_Missense_Mutation_p.P621L|GPHN_ENST00000543237.1_Missense_Mutation_p.P698L|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	652	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.P685L(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATCTTGGATCCTCGGCCAACC	0.458			T	MLL	AL																																		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	1	Substitution - Missense(1)	ovary(1)	14											112	108	109					14																	67635728		2203	4300	6503	66705481	SO:0001583	missense	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1955C>T	14.37:g.67635728C>T	ENSP00000312771:p.Pro652Leu		66705481	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913380	0.92178	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	.	.	.	5.18	4.27	0.50696	Molybdopterin binding (2);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	L	0.45698	1.435	0.80722	D	1	P;D;P;D	0.76494	0.694;0.999;0.711;0.967	B;D;B;P	0.74348	0.242;0.983;0.128;0.873	T	0.56780	-0.7922	9	0.12430	T	0.62	-6.8351	13.9654	0.64205	0.0:0.9245:0.0:0.0755	.	621;698;652;685	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	L	652;685;698;621;177	.	ENSP00000303019:P621L	P	+	2	0	GPHN	66705481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.449000	0.66619	2.677000	0.91161	0.650000	0.86243	CCT		0.458	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		T	67635728	C	T	67635728	3	4	10	1	0	0	0	0	1	0	0	0	6610	681	24	2	2136	2	GPHN	14	67635728	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09	8821137	67635728	39713812	29	637											
BUB1B	701	genome.wustl.edu	37	15	40509809	40509809	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr15:40509809C>T	ENST00000287598.6	+	21	2986	c.2791C>T	c.(2791-2793)Cgg>Tgg	p.R931W	RP11-133K1.2_ENST00000558658.1_Missense_Mutation_p.R8W|PAK6_ENST00000453867.1_5'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.R945W|PAK6_ENST00000441369.1_5'UTR	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	931	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R931W(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAGCGGCTTTCGGACTGTACA	0.443			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	1	Substitution - Missense(1)	ovary(1)	15											228	233	231					15																	40509809		2203	4300	6503	38297101	SO:0001583	missense	701	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2791C>T	15.37:g.40509809C>T	ENSP00000287598:p.Arg931Trp		38297101	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094601	0.76870	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.21361	2.01;2.01	5.7	5.7	0.88788	.	0.266688	0.35615	N	0.003098	T	0.45895	0.1365	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.26538	-1.0100	10	0.56958	D	0.05	-7.7332	18.0206	0.89253	0.0:1.0:0.0:0.0	.	931	O60566	BUB1B_HUMAN	W	931;945;814	ENSP00000287598:R931W;ENSP00000398470:R945W	ENSP00000287598:R931W	R	+	1	2	BUB1B	38297101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.135000	0.50546	2.675000	0.91044	0.591000	0.81541	CGG		0.443	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			T	40509809	C	T	40509809	3	4	10	1	0	0	0	0	1	0	0	0	1571	875	31	1	2873	1	BUB1B	15	40509809	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09		40509809	62021583	30	638											
UNC13C	440279	genome.wustl.edu	37	15	54556454	54556454	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr15:54556454G>C	ENST00000260323.11	+	8	3537	c.3537G>C	c.(3535-3537)gaG>gaC	p.E1179D	UNC13C_ENST00000545554.1_Missense_Mutation_p.E1179D|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1177D	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1179					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.E1179D(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATCAGGGAGAAAAACCGGC	0.398																																																1	Substitution - Missense(1)	ovary(1)	15											56	52	53					15																	54556454		1828	4073	5901	52343746	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3537G>C	15.37:g.54556454G>C	ENSP00000260323:p.Glu1179Asp		52343746	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800984	0.70567	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81163	-1.46;-1.46;-1.46	5.54	3.68	0.42216	.	0.054280	0.64402	D	0.000001	D	0.88779	0.6529	M	0.84683	2.71	0.39616	D	0.969961	D;P	0.61080	0.989;0.935	D;B	0.66196	0.942;0.315	D	0.89407	0.3700	10	0.56958	D	0.05	.	11.5166	0.50524	0.1449:0.0:0.8551:0.0	.	1179;1179	F5H090;Q8NB66	.;UN13C_HUMAN	D	1179;1179;1177	ENSP00000260323:E1179D;ENSP00000438156:E1179D;ENSP00000442569:E1177D	ENSP00000260323:E1179D	E	+	3	2	UNC13C	52343746	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.173000	0.42472	0.820000	0.34516	0.655000	0.94253	GAG		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54556454	G	C	54556454	3	2	10	1	0	0	0	0	1	0	0	0	16986	933	33	3	3563	3	UNC13C	15	54556454	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09	14046645	54556454	47974938	31	639											
TP53	7157	genome.wustl.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	CTGTTCCGTCCCAGTAGATTA	0.517		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"	86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	17											49	44	46					17																	7577142		2203	4300	6503	7517867	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.796G>A	17.37:g.7577142C>T	ENSP00000269305:p.Gly266Arg		7517867	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577142	C	T	7577142	3	4	10	1	0	0	0	0	1	0	0	0	16381	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09		7577142	73618068	32	640											
EPB41L3	23136	genome.wustl.edu	37	18	5445240	5445240	+	Missense_Mutation	SNP	G	G	A	rs372730881		TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr18:5445240G>A	ENST00000341928.2	-	4	725	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R129C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R129C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R129C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R129C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	129	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R129C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTCTGGAGCGTTTCTACAGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	18											111	92	98					18																	5445240		2203	4300	6503	5435240	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.385C>T	18.37:g.5445240G>A	ENSP00000343158:p.Arg129Cys		5435240	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594925	0.86953	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.82	5.82	0.92795	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.057689	0.64402	D	0.000001	D	0.89774	0.6812	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.941;0.936;0.94;0.981	D	0.90635	0.4570	10	0.87932	D	0	.	18.8665	0.92294	0.0:0.0:1.0:0.0	.	129;129;20;129;129	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	C	129;20;129;20;129;129;210	ENSP00000343158:R129C;ENSP00000441174:R129C;ENSP00000341138:R129C;ENSP00000382981:R129C	ENSP00000343158:R129C	R	-	1	0	EPB41L3	5435240	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.418000	0.80167	2.753000	0.94483	0.467000	0.42956	CGC		0.373	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5445240	G	A	5445240	3	1	10	1	0	0	0	0	1	0	0	0	5154	1145	40	1	2954	1	EPB41L3	18	5445240	Missense_Mutation	SNP	G	TCGA-04-1348-01A-01W-0494-09		5445240	72632008	33	641											
STARD6	147323	genome.wustl.edu	37	18	51851219	51851219	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr18:51851219A>G	ENST00000581310.1	-	9	879	c.506T>C	c.(505-507)aTg>aCg	p.M169T	STARD6_ENST00000580990.2_Missense_Mutation_p.M45T|STARD6_ENST00000307844.3_Missense_Mutation_p.M169T			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	169	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.M169T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTGGACAAACATCACTAGTTT	0.333																																																1	Substitution - Missense(1)	ovary(1)	18											114	111	112					18																	51851219		2202	4300	6502	50105217	SO:0001583	missense	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"StAR-related lipid transfer (START) domain containing"	18066	protein-coding gene	gene with protein product		607051	"START domain containing 6"			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.506T>C	18.37:g.51851219A>G	ENSP00000462349:p.Met169Thr		50105217		Missense_Mutation	SNP	ENST00000581310.1	37	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438064	0.25900	.	.	ENSG00000174448	ENST00000307844	T	0.78595	-1.19	5.53	5.53	0.82687	Lipid-binding START (3);START-like domain (1);	0.350903	0.29515	N	0.011932	T	0.66327	0.2778	L	0.27053	0.805	0.28573	N	0.910505	P	0.37914	0.611	B	0.37731	0.257	T	0.63225	-0.6685	10	0.32370	T	0.25	.	12.0438	0.53469	1.0:0.0:0.0:0.0	.	169	P59095	STAR6_HUMAN	T	169	ENSP00000310814:M169T	ENSP00000310814:M169T	M	-	2	0	STARD6	50105217	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.927000	0.63440	2.090000	0.63153	0.338000	0.21704	ATG		0.333	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		G	51851219	A	G	51851219	3	3	10	1	0	0	0	0	1	0	0	0	15263	217	8	4	159	4	STARD6	18	51851219	Missense_Mutation	SNP	A	TCGA-04-1348-01A-01W-0494-09	46405979	51851219	26226029	34	642											
OR1I1	126370	genome.wustl.edu	37	19	15198451	15198451	+	Missense_Mutation	SNP	C	C	T	rs527608443	byFrequency	TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr19:15198451C>T	ENST00000209540.2	+	1	661	c.575C>T	c.(574-576)aCg>aTg	p.T192M		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T192M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GGCTCAGACACGCACACCAAC	0.557													C|||	4	0.000798722	0	0	5008	,	,		22331	0		0	False		,,,				2504	0.0041															1	Substitution - Missense(1)	ovary(1)	19											129	110	117					19																	15198451		2203	4300	6503	15059451	SO:0001583	missense	126370			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.575C>T	19.37:g.15198451C>T	ENSP00000209540:p.Thr192Met		15059451	Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	CCDS32937.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828416	0.32329	.	.	ENSG00000094661	ENST00000209540	T	0.00265	8.39	4.79	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32785	U	0.005654	T	0.00608	0.0020	M	0.91717	3.235	0.32511	N	0.537584	D	0.89917	1.0	D	0.81914	0.995	T	0.23940	-1.0174	10	0.72032	D	0.01	.	9.0088	0.36129	0.0:0.8184:0.0:0.1815	.	192	O60431	OR1I1_HUMAN	M	192	ENSP00000209540:T192M	ENSP00000209540:T192M	T	+	2	0	OR1I1	15059451	0.003000	0.15002	0.123000	0.21794	0.011000	0.07611	0.716000	0.25836	0.635000	0.30488	0.555000	0.69702	ACG		0.557	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			T	15198451	C	T	15198451	3	4	10	1	0	0	0	0	1	0	0	0	10958	536	19	1	577	1	OR1I1	19	15198451	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09		15198451	43930532	35	643											
CHERP	10523	genome.wustl.edu	37	19	16641652	16641652	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chr19:16641652C>A	ENST00000198939.6	-	6	783	c.747G>T	c.(745-747)caG>caT	p.Q249H	CHERP_ENST00000546361.2_Missense_Mutation_p.Q238H|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein									p.Q238H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCACGACCTTCTGCAGGGCGG	0.716																																																1	Substitution - Missense(1)	ovary(1)	19											34	41	39					19																	16641652		2009	4166	6175	16502652	SO:0001583	missense	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.747G>T	19.37:g.16641652C>A	ENSP00000198939:p.Gln249His		16502652		Missense_Mutation	SNP	ENST00000198939.6	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.019188	0.75275	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.42131	0.98;0.98	5.18	4.13	0.48395	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	.	.	.	.	T	0.59838	0.2223	M	0.61703	1.905	0.53688	D	0.999976	D	0.67145	0.996	D	0.81914	0.995	T	0.63024	-0.6729	9	0.72032	D	0.01	-18.6228	13.2166	0.59863	0.0:0.9214:0.0:0.0786	.	238	Q8IWX8	CHERP_HUMAN	H	238;249	ENSP00000439856:Q238H;ENSP00000198939:Q249H	ENSP00000198939:Q249H	Q	-	3	2	CHERP	16502652	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.033000	0.49743	2.441000	0.82636	0.462000	0.41574	CAG		0.716	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		A	16641652	C	A	16641652	3	1	10	1	0	0	0	0	1	0	0	0	3336	912	32	3	2084	3	CHERP	19	16641652	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09	1443201	16641652	42487331	36	644											
MAOA	4128	genome.wustl.edu	37	X	43572007	43572007	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1348-01A-01W-0494-09	TCGA-04-1348-11A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1f4dee42-8f3d-4307-b6e5-3381d77d201c	b2ae42d1-f617-4dec-a1c7-c39c6e6fc8ec	g.chrX:43572007C>A	ENST00000338702.3	+	5	590	c.467C>A	c.(466-468)aCc>aAc	p.T156N	MAOA_ENST00000542639.1_Missense_Mutation_p.T23N|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	156					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)	p.T156N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GACAAAATGACCATGAAAGAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											117	97	104					X																	43572007		2203	4299	6502	43456951	SO:0001583	missense	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.467C>A	X.37:g.43572007C>A	ENSP00000340684:p.Thr156Asn		43456951	B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	.	16.91	3.251777	0.59212	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	T;T	0.11385	2.78;2.78	5.11	5.11	0.69529	Amine oxidase (1);	0.157396	0.56097	D	0.000033	T	0.42449	0.1203	M	0.91459	3.21	0.53688	D	0.999976	D	0.63046	0.992	D	0.69142	0.962	T	0.55451	-0.8139	10	0.62326	D	0.03	.	17.8319	0.88685	0.0:1.0:0.0:0.0	.	156	P21397	AOFA_HUMAN	N	156;23	ENSP00000340684:T156N;ENSP00000440846:T23N	ENSP00000340684:T156N	T	+	2	0	MAOA	43456951	1.000000	0.71417	0.255000	0.24374	0.284000	0.27059	6.640000	0.74319	2.142000	0.66516	0.431000	0.28591	ACC		0.418	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		A	43572007	C	A	43572007	3	1	10	1	0	0	0	0	1	0	0	0	9225	507	18	3	485	3	MAOA	23	43572007	Missense_Mutation	SNP	C	TCGA-04-1348-01A-01W-0494-09		43572007	111698553	37	645											
PADI2	11240	genome.wustl.edu	37	1	17418969	17418969	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr1:17418969C>T	ENST00000375486.4	-	6	652	c.589G>A	c.(589-591)Gga>Aga	p.G197R	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Missense_Mutation_p.G197R	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	197					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.G197R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ATCTCGTATCCGGCGGGGAGG	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											96	86	89					1																	17418969		2203	4300	6503	17291556	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.589G>A	1.37:g.17418969C>T	ENSP00000364635:p.Gly197Arg		17291556	Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044152	0.55110	.	.	ENSG00000117115	ENST00000375486;ENST00000375481	T;T	0.14893	2.47;2.47	5.76	4.85	0.62838	Protein-arginine deiminase (PAD), central domain (2);	0.045313	0.85682	D	0.000000	T	0.29524	0.0736	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	P	0.60345	0.873	T	0.02774	-1.1112	10	0.19590	T	0.45	-11.7819	13.8238	0.63338	0.0:0.9256:0.0:0.0744	.	197	Q9Y2J8	PADI2_HUMAN	R	197	ENSP00000364635:G197R;ENSP00000364630:G197R	ENSP00000364630:G197R	G	-	1	0	PADI2	17291556	0.997000	0.39634	0.058000	0.19502	0.453000	0.32348	5.244000	0.65400	1.440000	0.47531	0.561000	0.74099	GGA		0.537	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			T	17418969	C	T	17418969	3	4	11	1	0	0	0	0	1	0	0	0	11378	661	23	1	1452	1	PADI2	1	17418969	Missense_Mutation	SNP	C	TCGA-04-1349-01A-01W-0494-09		17418969	231831652	1	646											
VWA3B	200403	genome.wustl.edu	37	2	98866853	98866853	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr2:98866853A>G	ENST00000477737.1	+	20	2950	c.2746A>G	c.(2746-2748)Aat>Gat	p.N916D	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	916								p.N916D(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCCAAACTCAATATCTACAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											135	129	131					2																	98866853		1869	4100	5969	98233285	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2746A>G	2.37:g.98866853A>G	ENSP00000417955:p.Asn916Asp		98233285	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.274|7.274	0.607660|0.607660	0.14002|0.14002	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737;ENST00000358269|ENST00000473149	T|.	0.05786|.	3.39|.	4.63|4.63	3.48|3.48	0.39840|0.39840	.|.	0.350144|.	0.26761|.	N|.	0.022638|.	T|T	0.54078|0.54078	0.1836|0.1836	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B;B|.	0.21606|.	0.058;0.002;0.002|.	B;B;B|.	0.18561|.	0.022;0.006;0.004|.	T|T	0.47355|0.47355	-0.9124|-0.9124	10|5	0.13853|.	T|.	0.58|.	.|.	7.0743|7.0743	0.25195|0.25195	0.8972:0.0:0.1028:0.0|0.8972:0.0:0.1028:0.0	.|.	308;916;916|.	Q502W6-5;Q502W6;Q502W6-8|.	.;VWA3B_HUMAN;.|.	D|R	916;38|326	ENSP00000417955:N916D|.	ENSP00000351009:N38D|.	N|Q	+|+	1|2	0|0	VWA3B|VWA3B	98233285|98233285	0.928000|0.928000	0.31464|0.31464	0.964000|0.964000	0.40570|0.40570	0.900000|0.900000	0.52787|0.52787	0.946000|0.946000	0.29069|0.29069	0.903000|0.903000	0.36546|0.36546	0.528000|0.528000	0.53228|0.53228	AAT|CAA		0.398	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		G	98866853	A	G	98866853	3	3	11	1	0	0	0	0	1	0	0	0	17241	130	5	4	2820	4	VWA3B	2	98866853	Missense_Mutation	SNP	A	TCGA-04-1349-01A-01W-0494-09		98866853	144332520	2	647											
PGAP1	80055	genome.wustl.edu	37	2	197781283	197781283	+	Silent	SNP	T	T	C			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr2:197781283T>C	ENST00000354764.4	-	3	450	c.336A>G	c.(334-336)gcA>gcG	p.A112A	PGAP1_ENST00000409475.1_Silent_p.A112A|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Silent_p.A70A	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	112					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.A112A(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CAATGTCCTCTGCTTTTCTAA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	2											83	76	78					2																	197781283		2203	4300	6503	197489528	SO:0001819	synonymous_variant	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.336A>G	2.37:g.197781283T>C			197489528	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	CCDS2318.1																																																																																				0.398	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		C	197781283	T	C	197781283	2	2	11	1	0	0	0	0	0	0	0	1	11777	1567	55	4		4	PGAP1	2	197781283	Silent	SNP	T	TCGA-04-1349-01A-01W-0494-09	98914430	197781283	45418090	3	648											
FAM117B	150864	genome.wustl.edu	37	2	203630305	203630305	+	Nonsense_Mutation	SNP	A	A	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr2:203630305A>T	ENST00000392238.2	+	8	1588	c.1588A>T	c.(1588-1590)Aag>Tag	p.K530*	FAM117B_ENST00000303116.6_Nonsense_Mutation_p.K286*			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	530								p.K286*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCTTACACTCAAGGGCTCTGG	0.522																																																1	Substitution - Nonsense(1)	ovary(1)	2											133	125	128					2																	203630305		2203	4300	6503	203338550	SO:0001587	stop_gained	150864			AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1588A>T	2.37:g.203630305A>T	ENSP00000376071:p.Lys530*		203338550	Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Nonsense_Mutation	SNP	ENST00000392238.2	37	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886859	0.91814	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.75	5.75	0.90469	.	0.053328	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0826	16.0549	0.80794	1.0:0.0:0.0:0.0	.	.	.	.	X	286;530	.	ENSP00000306299:K286X	K	+	1	0	FAM117B	203338550	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.370000	0.52372	2.192000	0.70111	0.459000	0.35465	AAG		0.522	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		T	203630305	A	T	203630305	4	4	11	1	0	0	0	0	0	1	0	0	5410	131	5	5	1618	5	FAM117B	2	203630305	Nonsense_Mutation	SNP	A	TCGA-04-1349-01A-01W-0494-09	5849022	203630305	39569068	4	649											
CADM2	253559	genome.wustl.edu	37	3	85775654	85775654	+	Intron	SNP	A	A	G			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr3:85775654A>G	ENST00000407528.2	+	2	123				CADM2_ENST00000383699.3_Intron|CADM2_ENST00000405615.2_Missense_Mutation_p.N8S	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.N8S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTCTTGTGCAACCTTTCCTTG	0.348																																																1	Substitution - Missense(1)	ovary(1)	3											160	160	160					3																	85775654		2203	4300	6503	85858344	SO:0001627	intron_variant	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.62-75543A>G	3.37:g.85775654A>G			85858344	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	A	5.470	0.271823	0.10349	.	.	ENSG00000175161	ENST00000405615	T	0.62105	0.05	5.41	-0.746	0.11095	.	0.761709	0.12124	N	0.497440	T	0.31734	0.0806	.	.	.	0.22581	N	0.998965	B	0.15473	0.013	B	0.16289	0.015	T	0.26985	-1.0087	9	0.06494	T	0.89	.	6.6124	0.22759	0.4886:0.1314:0.0:0.38	.	8	Q8N3J6-3	.	S	8	ENSP00000384193:N8S	ENSP00000384193:N8S	N	+	2	0	CADM2	85858344	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.163000	0.31798	0.306000	0.22856	0.482000	0.46254	AAC		0.348	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		G	85775654	A	G	85775654	1	3	11	0	1	0	0	0	0	0	0	0	2567	43	2	4		4	CADM2	3	85775654	Intron	SNP	A	TCGA-04-1349-01A-01W-0494-09		85775654	112246776	5	650											
CAMK2D	817	genome.wustl.edu	37	4	114381345	114381345	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr4:114381345A>C	ENST00000342666.5	-	16	1161	c.1162T>G	c.(1162-1164)Tta>Gta	p.L388V	CAMK2D_ENST00000379773.2_Missense_Mutation_p.L388V|CAMK2D_ENST00000429180.1_Missense_Mutation_p.L408V|CAMK2D_ENST00000508738.1_Missense_Mutation_p.L399V|CAMK2D_ENST00000505990.1_Missense_Mutation_p.L422V|CAMK2D_ENST00000394522.3_Missense_Mutation_p.L402V|CAMK2D_ENST00000394524.3_Missense_Mutation_p.L388V|CAMK2D_ENST00000296402.5_Missense_Mutation_p.L388V|CAMK2D_ENST00000454265.2_Missense_Mutation_p.L413V|CAMK2D_ENST00000418639.2_Missense_Mutation_p.L402V|CAMK2D_ENST00000394526.2_Missense_Mutation_p.L399V|CAMK2D_ENST00000511664.1_Missense_Mutation_p.L422V|CAMK2D_ENST00000514328.1_Missense_Mutation_p.L387V|CAMK2D_ENST00000515496.1_Missense_Mutation_p.L399V			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	388					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)	p.L388V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CCTTCCACTAAATTACCCAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											88	99	96					4																	114381345		2203	4300	6503	114600794	SO:0001583	missense	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1162T>G	4.37:g.114381345A>C	ENSP00000339740:p.Leu388Val		114600794	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	CCDS3703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.67|18.67	3.673236|3.673236	0.67928|0.67928	.|.	.|.	ENSG00000145349|ENSG00000145349	ENST00000513132|ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738;ENST00000509594	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.48836	.|0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.47|5.47	4.3|4.3	0.51218|0.51218	.|Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.66127|0.66127	0.2758|0.2758	M|M	0.84156|0.84156	2.68|2.68	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.76494	.|0.999;0.999;0.975;0.991;0.999	.|D;D;P;D;D	.|0.91635	.|0.999;0.997;0.863;0.91;0.998	T|T	0.66646|0.66646	-0.5871|-0.5871	5|10	.|0.62326	.|D	.|0.03	.|.	6.0141|6.0141	0.19592|0.19592	0.6903:0.0:0.3097:0.0|0.6903:0.0:0.3097:0.0	.|.	.|422;399;402;388;388	.|E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.|.;.;.;.;KCC2D_HUMAN	C|V	91|388;413;408;402;399;388;422;388;399;387;402;422;388;399;181	.|ENSP00000378032:L388V;ENSP00000415248:L413V;ENSP00000415707:L408V;ENSP00000406131:L402V;ENSP00000378034:L399V;ENSP00000296402:L388V;ENSP00000425824:L422V;ENSP00000339740:L388V;ENSP00000423482:L399V;ENSP00000423677:L387V;ENSP00000378030:L402V;ENSP00000424245:L422V;ENSP00000369098:L388V;ENSP00000422566:L399V;ENSP00000423753:L181V	.|ENSP00000296402:L388V	F|L	-|-	2|1	0|2	CAMK2D|CAMK2D	114600794|114600794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.148000|4.148000	0.58085|0.58085	0.923000|0.923000	0.37045|0.37045	0.533000|0.533000	0.62120|0.62120	TTT|TTA		0.333	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			C	114381345	A	C	114381345	3	2	11	1	0	0	0	0	1	0	0	0	2601	11	1	5	361	5	CAMK2D	4	114381345	Missense_Mutation	SNP	A	TCGA-04-1349-01A-01W-0494-09		114381345	76772931	6	651											
LRBA	987	genome.wustl.edu	37	4	151392833	151392833	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr4:151392833A>T	ENST00000357115.3	-	44	6886	c.6643T>A	c.(6643-6645)Tgg>Agg	p.W2215R	LRBA_ENST00000507224.1_Missense_Mutation_p.W2204R|LRBA_ENST00000535741.1_Missense_Mutation_p.W2204R|LRBA_ENST00000510413.1_Missense_Mutation_p.W2204R|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2215	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.W2215R(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGTGTTGCCATCGCTGGGTC	0.323																																																1	Substitution - Missense(1)	ovary(1)	4											120	121	120					4																	151392833		2203	4300	6503	151612283	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6643T>A	4.37:g.151392833A>T	ENSP00000349629:p.Trp2215Arg		151612283	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.8|24.8	4.571318|4.571318	0.86542|0.86542	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|D;D;D;D	.|0.89681	.|-2.55;-2.55;-2.55;-2.55	5.28|5.28	5.28|5.28	0.74379|0.74379	.|BEACH domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97090|0.97090	0.9049|0.9049	H|H	0.99444|0.99444	4.57|4.57	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.98619|0.98619	1.0666|1.0666	5|10	.|0.87932	.|D	.|0	.|.	14.4774|14.4774	0.67557|0.67557	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2215;2204;105	.|P50851;P50851-2;Q68D03	.|LRBA_HUMAN;.;.	E|R	856|2204;2204;2215;2204	.|ENSP00000446299:W2204R;ENSP00000421552:W2204R;ENSP00000349629:W2215R;ENSP00000422180:W2204R	.|ENSP00000349629:W2215R	D|W	-|-	3|1	2|0	LRBA|LRBA	151612283|151612283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.056000|9.056000	0.93881|0.93881	2.107000|2.107000	0.64212|0.64212	0.528000|0.528000	0.53228|0.53228	GAT|TGG		0.323	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151392833	A	T	151392833	3	4	11	1	0	0	0	0	1	0	0	0	8931	217	8	5	2008	5	LRBA	4	151392833	Missense_Mutation	SNP	A	TCGA-04-1349-01A-01W-0494-09	37011488	151392833	39761443	7	652											
NNT	23530	genome.wustl.edu	37	5	43656085	43656085	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr5:43656085G>A	ENST00000264663.5	+	15	2424	c.2203G>A	c.(2203-2205)Gca>Aca	p.A735T	NNT_ENST00000512996.2_Missense_Mutation_p.A604T|NNT_ENST00000344920.4_Missense_Mutation_p.A735T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	735					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.A735T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGATGCAGCAGCAAATCTCAC	0.438																																																1	Substitution - Missense(1)	ovary(1)	5											122	107	112					5																	43656085		2203	4300	6503	43691842	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2203G>A	5.37:g.43656085G>A	ENSP00000264663:p.Ala735Thr		43691842	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172558	0.57584	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91464	-2.85;-2.85;-2.85	5.91	3.11	0.35812	.	0.137570	0.64402	N	0.000003	D	0.84401	0.5464	L	0.37800	1.135	0.58432	D	0.999999	B	0.15473	0.013	B	0.22880	0.042	T	0.75625	-0.3253	10	0.40728	T	0.16	-4.274	8.3736	0.32430	0.1336:0.0:0.7356:0.1308	.	735	Q13423	NNTM_HUMAN	T	250;735;735;604	ENSP00000264663:A735T;ENSP00000343873:A735T;ENSP00000426343:A604T	ENSP00000264663:A735T	A	+	1	0	NNT	43691842	1.000000	0.71417	0.899000	0.35326	0.995000	0.86356	6.361000	0.73070	0.368000	0.24481	-0.150000	0.13652	GCA		0.438	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		A	43656085	G	A	43656085	3	1	11	1	0	0	0	0	1	0	0	0	10510	971	34	2	2257	2	NNT	5	43656085	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09		43656085	137259175	8	653											
PPP2CA	5515	genome.wustl.edu	37	5	133537663	133537663	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr5:133537663C>G	ENST00000481195.1	-	3	642	c.362G>C	c.(361-363)aGa>aCa	p.R121T	PPP2CA_ENST00000231504.5_5'Flank|CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	121					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R121T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	TGTGATCTGTCTGCTCTCATG	0.328																																																1	Substitution - Missense(1)	ovary(1)	5											119	117	117					5																	133537663		2203	4300	6503	133565562	SO:0001583	missense	5515				CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9299	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, alpha isoform"	176915	"protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.362G>C	5.37:g.133537663C>G	ENSP00000418447:p.Arg121Thr		133565562	P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404939	0.96051	.	.	ENSG00000113575	ENST00000481195;ENST00000522385;ENST00000523082	T;T;T	0.06449	3.3;3.3;3.3	5.98	5.98	0.97165	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66268	-0.5966	10	0.87932	D	0	-11.3039	20.452	0.99131	0.0:1.0:0.0:0.0	.	121	P67775	PP2AA_HUMAN	T	121;56;108	ENSP00000418447:R121T;ENSP00000430869:R56T;ENSP00000428816:R108T	ENSP00000418447:R121T	R	-	2	0	PPP2CA	133565562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	AGA		0.328	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		G	133537663	C	G	133537663	3	3	11	1	0	0	0	0	1	0	0	0	12383	913	32	3	587	3	PPP2CA	5	133537663	Missense_Mutation	SNP	C	TCGA-04-1349-01A-01W-0494-09	89881578	133537663	47377597	9	654											
PCDHB9	0	genome.wustl.edu	37	5	140568838	140568838	+	IGR	SNP	G	G	A			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr5:140568838G>A								PCDHB16 (3045 upstream) : PCDHB10 (3103 downstream)																							ACAATGGCGAGCCTCCTCGCT	0.711																																																0			5											26	28	27					5																	140568838		2111	4160	6271	140549022	SO:0001628	intergenic_variant	56127																															5.37:g.140568838G>A			140549022		Missense_Mutation	SNP		37																																																																																				0	0.711									A	140568838	G	A	140568838	1	1	11	0	1	0	0	0	0	0	0	0	11549	971	34	2		2	PCDHB9	5	140568838	IGR	SNP	G	TCGA-04-1349-01A-01W-0494-09	7031175	140568838	40346422	10	655											
ANKS1A	23294	genome.wustl.edu	37	6	34985642	34985642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr6:34985642C>T	ENST00000360359.3	+	11	1954	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	606					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.R606*(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGCCAGGAGCCGAGCGCCTCC	0.607																																																1	Substitution - Nonsense(1)	ovary(1)	6											92	110	104					6																	34985642		2203	4300	6503	35093620	SO:0001587	stop_gained	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1816C>T	6.37:g.34985642C>T	ENSP00000353518:p.Arg606*		35093620	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Nonsense_Mutation	SNP	ENST00000360359.3	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	38	6.808851	0.97853	.	.	ENSG00000064999	ENST00000360359	.	.	.	5.14	3.26	0.37387	.	0.166897	0.27262	N	0.020164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4371	7.0516	0.25075	0.3849:0.5278:0.0:0.0872	.	.	.	.	X	606	.	ENSP00000353518:R606X	R	+	1	2	ANKS1A	35093620	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.738000	0.26158	1.220000	0.43490	0.655000	0.94253	CGA		0.607	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		T	34985642	C	T	34985642	4	4	11	1	0	0	0	0	0	1	0	0	688	644	23	1	1858	1	ANKS1A	6	34985642	Nonsense_Mutation	SNP	C	TCGA-04-1349-01A-01W-0494-09		34985642	136129425	11	656											
SOBP	55084	genome.wustl.edu	37	6	107955065	107955065	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr6:107955065C>A	ENST00000317357.5	+	6	1676	c.1017C>A	c.(1015-1017)aaC>aaA	p.N339K		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.N339K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ACACTGCCAACTGCTCTGTCA	0.627																																																1	Substitution - Missense(1)	ovary(1)	6											93	103	100					6																	107955065		2046	4190	6236	108061758	SO:0001583	missense	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1017C>A	6.37:g.107955065C>A	ENSP00000318900:p.Asn339Lys		108061758		Missense_Mutation	SNP	ENST00000317357.5	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338743	0.41398	.	.	ENSG00000112320	ENST00000317357	T	0.30448	1.53	5.7	4.82	0.62117	.	0.124916	0.53938	D	0.000055	T	0.07818	0.0196	N	0.22421	0.69	0.38771	D	0.954559	P	0.42248	0.774	B	0.36922	0.236	T	0.10428	-1.0630	10	0.13108	T	0.6	-15.2399	11.0749	0.48025	0.0:0.8566:0.0:0.1434	.	339	A7XYQ1	SOBP_HUMAN	K	339	ENSP00000318900:N339K	ENSP00000318900:N339K	N	+	3	2	SOBP	108061758	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	1.512000	0.35812	1.377000	0.46286	0.655000	0.94253	AAC		0.627	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		A	107955065	C	A	107955065	3	1	11	1	0	0	0	0	1	0	0	0	14915	564	20	3	1039	3	SOBP	6	107955065	Missense_Mutation	SNP	C	TCGA-04-1349-01A-01W-0494-09	72969423	107955065	63160002	12	657											
MCM9	254394	genome.wustl.edu	37	6	119238803	119238803	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr6:119238803G>A	ENST00000316316.6	-	5	1113	c.827C>T	c.(826-828)tCa>tTa	p.S276L	MCM9_ENST00000316068.3_Missense_Mutation_p.S276L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	276					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S276L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GATGATCCCTGAGGACTGCTC	0.423																																																1	Substitution - Missense(1)	ovary(1)	6											124	115	118					6																	119238803		2203	4300	6503	119280502	SO:0001583	missense	254394			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.827C>T	6.37:g.119238803G>A	ENSP00000314505:p.Ser276Leu		119280502	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	8.244	0.807444	0.16467	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.06371	3.74;3.31	5.81	2.97	0.34412	.	.	.	.	.	T	0.01287	0.0042	N	0.16833	0.445	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47289	-0.9129	9	0.45353	T	0.12	.	5.8785	0.18842	0.0683:0.2581:0.54:0.1336	.	276	Q9NXL9-2	.	L	276	ENSP00000314505:S276L;ENSP00000312870:S276L	ENSP00000312870:S276L	S	-	2	0	MCM9	119280502	0.765000	0.28485	0.026000	0.17262	0.318000	0.28184	3.692000	0.54727	0.752000	0.32923	0.650000	0.86243	TCA		0.423	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		A	119238803	G	A	119238803	3	1	11	1	0	0	0	0	1	0	0	0	9394	1294	45	2	360	2	MCM9	6	119238803	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09	11283738	119238803	51876264	13	658											
SLC18A1	6570	genome.wustl.edu	37	8	20038410	20038411	+	Frame_Shift_Ins	INS	-	-	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr8:20038410_20038411insT	ENST00000276373.5	-	2	331_332	c.65_66insA	c.(64-66)ctgfs	p.L22fs	SLC18A1_ENST00000437980.1_Frame_Shift_Ins_p.L22fs|SLC18A1_ENST00000440926.1_Frame_Shift_Ins_p.L22fs|SLC18A1_ENST00000381608.4_Frame_Shift_Ins_p.L22fs|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.L22fs|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.L22fs	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	22					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.V23fs*29(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CCACCAGCACCAGCTGCCGGGA	0.594																																																1	Insertion - Frameshift(1)	ovary(1)	8																																								20082691	SO:0001589	frameshift_variant	6570				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.65_66insA	8.37:g.20038410_20038411insT	ENSP00000276373:p.Leu22fs		20082690	E9PDJ5|Q9BRE4	Frame_Shift_Ins	INS	ENST00000276373.5	37	CCDS6013.1																																																																																				0.594	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			T	20038411	-	T	20038410	7	5	11	1	0	1	1	0	0	0	0	0	14428	581	21	0	1571	0	SLC18A1	8	20038410	Frame_Shift_Ins	INS	-	TCGA-04-1349-01A-01W-0494-09		20038410	126325612	14	659											
RB1CC1	9821	genome.wustl.edu	37	8	53586460	53586460	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr8:53586460T>C	ENST00000025008.5	-	7	1470	c.947A>G	c.(946-948)gAt>gGt	p.D316G	RB1CC1_ENST00000435644.2_Missense_Mutation_p.D316G|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D316G	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	316					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.D316G(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTAGGTCTATCTTGAACATT	0.348																																					GBM(180;1701 2102 13475 42023 52570)											1	Substitution - Missense(1)	ovary(1)	8											85	78	80					8																	53586460		2203	4300	6503	53749013	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.947A>G	8.37:g.53586460T>C	ENSP00000025008:p.Asp316Gly		53749013	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.743573	0.89663	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.21734	1.99;1.99;1.99	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.15723	-1.0427	10	0.72032	D	0.01	-24.9624	16.0859	0.81049	0.0:0.0:0.0:1.0	.	316;316	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	G	316	ENSP00000025008:D316G;ENSP00000396067:D316G;ENSP00000445960:D316G	ENSP00000025008:D316G	D	-	2	0	RB1CC1	53749013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.248000	0.74166	0.460000	0.39030	GAT		0.348	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		C	53586460	T	C	53586460	3	2	11	1	0	0	0	0	1	0	0	0	13102	1435	50	4	3909	4	RB1CC1	8	53586460	Missense_Mutation	SNP	T	TCGA-04-1349-01A-01W-0494-09	33548050	53586460	92777562	15	660											
NUP188	23511	genome.wustl.edu	37	9	131730797	131730797	+	Missense_Mutation	SNP	G	G	A	rs375622238		TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr9:131730797G>A	ENST00000372577.2	+	9	619	c.598G>A	c.(598-600)Gtg>Atg	p.V200M		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	200					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.V200M(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGAGCGCCAAGTGTCTCGCTG	0.383																																																1	Substitution - Missense(1)	ovary(1)	9						G	MET/VAL	0,4406		0,0,2203	87	88	88		598	5.5	1	9		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP188	NM_015354.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	200/1750	131730797	1,13005	2203	4300	6503	130770618	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.598G>A	9.37:g.131730797G>A	ENSP00000361658:p.Val200Met		130770618	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013579	0.75161	0.0	1.16E-4	ENSG00000095319	ENST00000372577	T	0.31769	1.48	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20371	-1.0277	10	0.37606	T	0.19	-2.6676	18.8285	0.92128	0.0:0.0:1.0:0.0	.	200	Q5SRE5	NU188_HUMAN	M	200	ENSP00000361658:V200M	ENSP00000361658:V200M	V	+	1	0	NUP188	130770618	1.000000	0.71417	0.997000	0.53966	0.852000	0.48524	6.122000	0.71608	2.763000	0.94921	0.563000	0.77884	GTG		0.383	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			A	131730797	G	A	131730797	3	1	11	1	0	0	0	0	1	0	0	0	10758	1029	36	2	632	2	NUP188	9	131730797	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09		131730797	9482634	16	661											
KIAA0649	9858	genome.wustl.edu	37	9	138379949	138379949	+	Missense_Mutation	SNP	C	C	T	rs201592205		TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr9:138379949C>T	ENST00000356818.2	+	4	4142	c.3593C>T	c.(3592-3594)aCg>aTg	p.T1198M	PPP1R26_ENST00000605660.1_Missense_Mutation_p.T1198M|PPP1R26_ENST00000605286.1_Missense_Mutation_p.T1198M|PPP1R26_ENST00000401470.3_Missense_Mutation_p.T1198M|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.T1198M	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1198					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.T1198M(1)									GACACCTCCACGGAGGACAGT	0.597																																																1	Substitution - Missense(1)	ovary(1)	9						C	MET/THR	0,4406		0,0,2203	53	55	54		3593	3	0.5	9		54	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KIAA0649	NM_014811.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1198/1210	138379949	2,13004	2203	4300	6503	137519770	SO:0001583	missense	9858			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3593C>T	9.37:g.138379949C>T	ENSP00000349274:p.Thr1198Met		137519770	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	5.408	0.260374	0.10239	0.0	2.33E-4	ENSG00000196422	ENST00000356818	T	0.09445	2.98	5.34	3.0	0.34707	.	1.609420	0.03204	N	0.175259	T	0.05640	0.0148	N	0.03608	-0.345	0.09310	N	0.999997	B	0.06786	0.001	B	0.01281	0.0	T	0.32666	-0.9898	10	0.31617	T	0.26	-4.3096	4.5691	0.12202	0.0:0.1726:0.1669:0.6605	.	1198	Q5T8A7	PPR26_HUMAN	M	1198	ENSP00000349274:T1198M	ENSP00000349274:T1198M	T	+	2	0	KIAA0649	137519770	0.803000	0.28956	0.487000	0.27428	0.243000	0.25628	0.988000	0.29616	0.425000	0.26087	-1.267000	0.01435	ACG		0.597	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		T	138379949	C	T	138379949	3	4	11	1	0	0	0	0	1	0	0	0	8187	536	19	1	3595	1	KIAA0649	9	138379949	Missense_Mutation	SNP	C	TCGA-04-1349-01A-01W-0494-09	6649152	138379949	2833482	17	662											
GPR158	57512	genome.wustl.edu	37	10	25886863	25886863	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr10:25886863T>C	ENST00000376351.3	+	11	2667	c.2308T>C	c.(2308-2310)Tct>Cct	p.S770P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	770					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S770P(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCGGCAGTGCTCTAAAGAGGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	10											84	94	91					10																	25886863		2203	4300	6503	25926869	SO:0001583	missense	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2308T>C	10.37:g.25886863T>C	ENSP00000365529:p.Ser770Pro		25926869	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124639	0.77436	.	.	ENSG00000151025	ENST00000376351	T	0.65178	-0.14	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000003	T	0.78039	0.4221	M	0.68317	2.08	0.44012	D	0.996727	D	0.89917	1.0	D	0.83275	0.996	T	0.80155	-0.1500	10	0.72032	D	0.01	.	16.1031	0.81201	0.0:0.0:0.0:1.0	.	770	Q5T848	GP158_HUMAN	P	770	ENSP00000365529:S770P	ENSP00000365529:S770P	S	+	1	0	GPR158	25926869	1.000000	0.71417	0.990000	0.47175	0.938000	0.57974	5.911000	0.69939	2.197000	0.70478	0.528000	0.53228	TCT		0.572	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		C	25886863	T	C	25886863	3	2	11	1	0	0	0	0	1	0	0	0	6663	1551	54	4	2350	4	GPR158	10	25886863	Missense_Mutation	SNP	T	TCGA-04-1349-01A-01W-0494-09		25886863	109647884	18	663											
PCDH15	65217	genome.wustl.edu	37	10	55616968	55616968	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr10:55616968G>T	ENST00000320301.6	-	28	4167	c.3773C>A	c.(3772-3774)aCt>aAt	p.T1258N	PCDH15_ENST00000437009.1_Missense_Mutation_p.T1187N|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1236N|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1265N|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1221N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1258N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1258N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.T869N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1258N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1263N|PCDH15_ENST00000373965.2_Missense_Mutation_p.T1265N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1258	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T1258N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCACTAGAGTAGGAGGCAC	0.299										HNSCC(58;0.16)																																						1	Substitution - Missense(1)	ovary(1)	10											73	73	73					10																	55616968		2203	4299	6502	55286974	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3773C>A	10.37:g.55616968G>T	ENSP00000322604:p.Thr1258Asn		55286974	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710069	0.89018	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58060	0.48;0.53;0.47;0.48;0.44;0.38;0.36;0.41;0.37;0.36;0.36	5.17	5.17	0.71159	Cadherin (1);	.	.	.	.	T	0.70133	0.3189	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.987;0.99;0.987;0.996;0.999;0.997;0.997;0.999;0.999;0.974;0.98;0.99	T	0.70898	-0.4747	9	0.51188	T	0.08	.	18.2926	0.90135	0.0:0.0:1.0:0.0	.	1236;1258;1258;1263;1187;1221;1258;1258;1265;1265;1258;1263;1258	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	1265;1263;1258;1258;869;1265;1221;1258;1236;1258;1258;1263;1187	ENSP00000363076:T1265N;ENSP00000410304:T1263N;ENSP00000378826:T1258N;ENSP00000386693:T869N;ENSP00000378832:T1265N;ENSP00000378820:T1221N;ENSP00000354950:T1258N;ENSP00000378821:T1236N;ENSP00000322604:T1258N;ENSP00000378818:T1258N;ENSP00000412628:T1187N	ENSP00000322604:T1258N	T	-	2	0	PCDH15	55286974	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.624000	0.98398	2.418000	0.82041	0.655000	0.94253	ACT		0.299	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	55616968	G	T	55616968	3	4	11	1	0	0	0	0	1	0	0	0	11511	1029	36	3	3737	3	PCDH15	10	55616968	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09	29730105	55616968	79917779	19	664											
FAR1	84188	genome.wustl.edu	37	11	13749116	13749116	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr11:13749116A>T	ENST00000354817.3	+	11	1415	c.1271A>T	c.(1270-1272)gAt>gTt	p.D424V	FAR1_ENST00000532502.1_Missense_Mutation_p.D48V	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	424					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.D424V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TTCAATATTGATGTACGGCAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	11											106	107	107					11																	13749116		2200	4294	6494	13705692	SO:0001583	missense	84188			AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	26222	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 1"		"male sterility domain containing 2"	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.1271A>T	11.37:g.13749116A>T	ENSP00000346874:p.Asp424Val		13705692	D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645134	0.87859	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.38240	1.15	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79055	-0.1960	10	0.87932	D	0	-20.8448	15.7281	0.77780	1.0:0.0:0.0:0.0	.	424	Q8WVX9	FACR1_HUMAN	V	424;48	ENSP00000346874:D424V	ENSP00000346874:D424V	D	+	2	0	FAR1	13705692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.246000	0.74042	0.533000	0.62120	GAT		0.368	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		T	13749116	A	T	13749116	3	4	11	1	0	0	0	0	1	0	0	0	5674	333	12	5	1309	5	FAR1	11	13749116	Missense_Mutation	SNP	A	TCGA-04-1349-01A-01W-0494-09		13749116	121257400	20	665											
TTC9C	283237	genome.wustl.edu	37	11	62496464	62496464	+	Silent	SNP	G	G	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr11:62496464G>T	ENST00000316461.4	+	1	454	c.144G>T	c.(142-144)ccG>ccT	p.P48P	HNRNPUL2-BSCL2_ENST00000403734.2_5'Flank|TTC9C_ENST00000513247.2_Silent_p.P181P|TTC9C_ENST00000532583.1_Silent_p.P48P|HNRNPUL2_ENST00000301785.5_5'Flank	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	48								p.P48P(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						TGCCCTCTCCGTTACCTAATC	0.552																																																1	Substitution - coding silent(1)	ovary(1)	11											118	105	109					11																	62496464		2202	4299	6501	62253040	SO:0001819	synonymous_variant	283237			BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"Tetratricopeptide (TTC) repeat domain containing"	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.144G>T	11.37:g.62496464G>T			62253040	Q8WYY7	Silent	SNP	ENST00000316461.4	37	CCDS8033.1																																																																																				0.552	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1	NM_173810		T	62496464	G	T	62496464	2	4	11	1	0	0	0	0	0	0	0	1	16717	1132	40	3		3	TTC9C	11	62496464	Silent	SNP	G	TCGA-04-1349-01A-01W-0494-09	48747348	62496464	72510052	21	666											
PRICKLE1	144165	genome.wustl.edu	37	12	42858557	42858557	+	Missense_Mutation	SNP	G	G	C	rs553919252		TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr12:42858557G>C	ENST00000455697.1	-	7	1564	c.1279C>G	c.(1279-1281)Ctc>Gtc	p.L427V	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L427V|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L427V|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L427V|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L427V	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	427					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L427V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGCTGAAAGAGGCTTTTATCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											70	73	72					12																	42858557		2203	4300	6503	41144824	SO:0001583	missense	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1279C>G	12.37:g.42858557G>C	ENSP00000401060:p.Leu427Val		41144824	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458406	0.43634	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.76	4.86	0.63082	.	0.178326	0.52532	N	0.000078	T	0.39253	0.1071	N	0.08118	0	0.41473	D	0.988117	B	0.09022	0.002	B	0.12156	0.007	T	0.15665	-1.0429	10	0.23891	T	0.37	-4.2574	17.2937	0.87164	0.0:0.1252:0.8748:0.0	.	427	Q96MT3	PRIC1_HUMAN	V	427	ENSP00000401060:L427V;ENSP00000398947:L427V;ENSP00000448359:L427V;ENSP00000345064:L427V;ENSP00000449819:L427V	ENSP00000345064:L427V	L	-	1	0	PRICKLE1	41144824	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.961000	0.40432	1.566000	0.49654	0.650000	0.86243	CTC		0.438	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			C	42858557	G	C	42858557	3	2	11	1	0	0	0	0	1	0	0	0	12489	1000	35	3	1224	3	PRICKLE1	12	42858557	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09		42858557	90993338	22	667											
KRT79	338785	genome.wustl.edu	37	12	53218087	53218087	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr12:53218087G>T	ENST00000330553.5	-	5	949	c.915C>A	c.(913-915)aaC>aaA	p.N305K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	305	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.N305K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTGCGGTTGTTGTCCATGG	0.597																																																1	Substitution - Missense(1)	ovary(1)	12											107	83	91					12																	53218087		2203	4300	6503	51504354	SO:0001583	missense	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.915C>A	12.37:g.53218087G>T	ENSP00000328358:p.Asn305Lys		51504354	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121685	0.77436	.	.	ENSG00000185640	ENST00000330553	T	0.75821	-0.97	4.08	3.19	0.36642	Filament (1);	0.000000	0.53938	D	0.000049	D	0.88548	0.6466	H	0.95884	3.735	0.47476	D	0.999439	D	0.69078	0.997	D	0.65323	0.934	D	0.90911	0.4776	10	0.87932	D	0	.	11.4539	0.50169	0.0902:0.0:0.9098:0.0	.	305	Q5XKE5	K2C79_HUMAN	K	305	ENSP00000328358:N305K	ENSP00000328358:N305K	N	-	3	2	KRT79	51504354	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.358000	0.52284	1.295000	0.44724	0.561000	0.74099	AAC		0.597	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		T	53218087	G	T	53218087	3	4	11	1	0	0	0	0	1	0	0	0	8492	1368	48	3	712	3	KRT79	12	53218087	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09	10359530	53218087	80633808	23	668											
LRIG3	121227	genome.wustl.edu	37	12	59274510	59274510	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr12:59274510G>C	ENST00000320743.3	-	13	1940	c.1654C>G	c.(1654-1656)Ctc>Gtc	p.L552V	LRIG3_ENST00000379141.4_Missense_Mutation_p.L492V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	552	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L552V(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGGGCCCGGAGGTGTGCATAA	0.498			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	1	Substitution - Missense(1)	ovary(1)	12											144	123	130					12																	59274510		2203	4300	6503	57560777	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1654C>G	12.37:g.59274510G>C	ENSP00000326759:p.Leu552Val		57560777	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	8.558	0.877055	0.17395	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.63417	-0.04;-0.04	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33199	N	0.005163	T	0.36138	0.0956	N	0.02169	-0.655	0.52099	D	0.999944	B;B	0.27068	0.001;0.167	B;B	0.31101	0.002;0.124	T	0.39820	-0.9595	9	.	.	.	.	13.7331	0.62802	0.0698:0.0:0.9302:0.0	.	492;552	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	V	492;552	ENSP00000368436:L492V;ENSP00000326759:L552V	.	L	-	1	0	LRIG3	57560777	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.456000	0.66665	2.873000	0.98535	0.561000	0.74099	CTC		0.498	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		C	59274510	G	C	59274510	3	2	11	1	0	0	0	0	1	0	0	0	8946	1000	35	3	1733	3	LRIG3	12	59274510	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09	6056423	59274510	74577385	24	669											
DAO	1610	genome.wustl.edu	37	12	109281280	109281280	+	Silent	SNP	C	C	T	rs149638037		TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr12:109281280C>T	ENST00000228476.3	+	3	453	c.249C>T	c.(247-249)aaC>aaT	p.N83N	DAO_ENST00000551281.1_Silent_p.N83N	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	83					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.N83N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	ATTCTCCCAACGCTGAAAACC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	12											334	310	318					12																	109281280		2203	4300	6503	107805409	SO:0001819	synonymous_variant	1610			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.249C>T	12.37:g.109281280C>T			107805409	B2R7I5|Q16758|Q8N6R2	Silent	SNP	ENST00000228476.3	37	CCDS9122.1																																																																																				0.542	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			T	109281280	C	T	109281280	2	4	11	1	0	0	0	0	0	0	0	1	4231	535	19	1		1	DAO	12	109281280	Silent	SNP	C	TCGA-04-1349-01A-01W-0494-09	50006770	109281280	24570615	25	670											
PLEK2	26499	genome.wustl.edu	37	14	67862145	67862145	+	Silent	SNP	G	G	A			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr14:67862145G>A	ENST00000216446.4	-	3	503	c.363C>T	c.(361-363)ttC>ttT	p.F121F	PLEK2_ENST00000557388.1_5'Flank	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	121					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.F121F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GGGGCAGCTTGAAGGAGTTTC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	14											57	55	56					14																	67862145		2203	4300	6503	66931898	SO:0001819	synonymous_variant	26499			AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"Pleckstrin homology (PH) domain containing"	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.363C>T	14.37:g.67862145G>A			66931898	Q96JT0	Silent	SNP	ENST00000216446.4	37	CCDS9782.1																																																																																				0.652	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			A	67862145	G	A	67862145	2	1	11	1	0	0	0	0	0	0	0	1	12054	1281	45	2		2	PLEK2	14	67862145	Silent	SNP	G	TCGA-04-1349-01A-01W-0494-09		67862145	39487395	26	671											
NUMB	8650	genome.wustl.edu	37	14	73743380	73743380	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr14:73743380G>A	ENST00000355058.3	-	13	2140	c.1862C>T	c.(1861-1863)gCt>gTt	p.A621V	NUMB_ENST00000554546.1_Missense_Mutation_p.A562V|NUMB_ENST00000555238.1_Missense_Mutation_p.A621V|NUMB_ENST00000454166.4_Missense_Mutation_p.A475V|NUMB_ENST00000535282.1_Missense_Mutation_p.A610V|RP4-647C14.3_ENST00000556578.1_RNA|NUMB_ENST00000359560.3_Missense_Mutation_p.A610V|NUMB_ENST00000556772.1_Missense_Mutation_p.A477V|NUMB_ENST00000555738.2_Missense_Mutation_p.A464V|NUMB_ENST00000555394.1_Missense_Mutation_p.A573V|NUMB_ENST00000560335.1_Missense_Mutation_p.A475V|NUMB_ENST00000559312.1_Missense_Mutation_p.A426V|NUMB_ENST00000356296.4_Missense_Mutation_p.A573V|NUMB_ENST00000554521.2_Missense_Mutation_p.A415V|NUMB_ENST00000544991.3_Missense_Mutation_p.A426V|NUMB_ENST00000557597.1_Missense_Mutation_p.A610V			P49757	NUMB_HUMAN	numb homolog (Drosophila)	621					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A621V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TTCTAATGCAGCCCACTGGGC	0.483																																																1	Substitution - Missense(1)	ovary(1)	14											75	71	73					14																	73743380		2203	4300	6503	72813133	SO:0001583	missense	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1862C>T	14.37:g.73743380G>A	ENSP00000347169:p.Ala621Val		72813133	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	ENST00000355058.3	37	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862993	0.51482	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.36;-0.5;-0.16;-0.19;0.59;-0.19;-0.16;-0.5;-0.67;-0.59;-0.56;-0.65;-0.16	5.3	5.3	0.74995	.	0.047630	0.85682	D	0.000000	T	0.64227	0.2579	L	0.27053	0.805	0.80722	D	1	P;B;B;B;B;P;P;P;P	0.47302	0.846;0.227;0.227;0.227;0.227;0.893;0.893;0.72;0.736	B;B;B;B;B;B;B;B;B	0.42692	0.395;0.034;0.034;0.034;0.034;0.303;0.303;0.365;0.272	T	0.70299	-0.4910	10	0.87932	D	0	-14.3677	19.1566	0.93514	0.0:0.0:1.0:0.0	.	319;464;475;415;426;562;573;610;621	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	V	562;573;610;621;477;621;610;573;426;475;464;415;610	ENSP00000452416:A562V;ENSP00000348644:A573V;ENSP00000451117:A610V;ENSP00000451300:A621V;ENSP00000451513:A477V;ENSP00000347169:A621V;ENSP00000352563:A610V;ENSP00000451625:A573V;ENSP00000446001:A426V;ENSP00000394025:A475V;ENSP00000452069:A464V;ENSP00000450817:A415V;ENSP00000441258:A610V	ENSP00000347169:A621V	A	-	2	0	NUMB	72813133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.523000	0.81856	2.763000	0.94921	0.561000	0.74099	GCT		0.483	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			A	73743380	G	A	73743380	3	1	11	1	0	0	0	0	1	0	0	0	10751	971	34	2	97	2	NUMB	14	73743380	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09	5881235	73743380	33606160	27	672											
CDH13	1012	genome.wustl.edu	37	16	83250966	83250966	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr16:83250966G>T	ENST00000566620.1	+	5	790	c.500G>T	c.(499-501)aGg>aTg	p.R167M	CDH13_ENST00000268613.10_Missense_Mutation_p.R214M|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.R128M	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	167	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.R167M(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GATAGTGACAGGCCAGAAAGG	0.453																																																1	Substitution - Missense(1)	ovary(1)	16											91	88	89					16																	83250966		1877	4102	5979	81808467	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.500G>T	16.37:g.83250966G>T	ENSP00000454435:p.Arg167Met		81808467	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552642	0.45487	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.53423	0.62	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45418	0.1341	L	0.34521	1.04	0.80722	D	1	B;B;B	0.22909	0.077;0.037;0.03	B;B;B	0.33392	0.163;0.163;0.029	T	0.38436	-0.9661	9	0.59425	D	0.04	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	128;214;167	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	M	214;167;128	ENSP00000268613:R214M	ENSP00000268613:R214M	R	+	2	0	CDH13	81808467	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.954000	0.56708	2.720000	0.93068	0.557000	0.71058	AGG		0.453	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		T	83250966	G	T	83250966	3	4	11	1	0	0	0	0	1	0	0	0	3099	1000	35	3	518	3	CDH13	16	83250966	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09		83250966	7103787	28	673	3	2									
CDH13	1012	genome.wustl.edu	37	16	83250975	83250975	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr16:83250975G>T	ENST00000566620.1	+	5	799	c.509G>T	c.(508-510)aGg>aTg	p.R170M	CDH13_ENST00000268613.10_Missense_Mutation_p.R217M|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.R131M	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	170	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.R170M(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGGCCAGAAAGGTCCAAGTTC	0.463																																																1	Substitution - Missense(1)	ovary(1)	16											92	89	90					16																	83250975		1871	4102	5973	81808476	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.509G>T	16.37:g.83250975G>T	ENSP00000454435:p.Arg170Met		81808476	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406774	0.42715	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.52754	0.65	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46092	0.1375	L	0.34521	1.04	0.80722	D	1	B;B;P	0.35612	0.002;0.0;0.512	B;B;B	0.41619	0.0;0.002;0.361	T	0.39014	-0.9634	9	0.46703	T	0.11	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	131;217;170	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	M	217;170;131	ENSP00000268613:R217M	ENSP00000268613:R217M	R	+	2	0	CDH13	81808476	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.954000	0.56708	2.720000	0.93068	0.557000	0.71058	AGG		0.463	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		T	83250975	G	T	83250975	3	4	11	1	0	0	0	0	1	0	0	0	3099	1000	35	3	527	3	CDH13	16	83250975	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09	9	83250975	7103778	29	674	3	2									
RAP1GAP2	23108	genome.wustl.edu	37	17	2929391	2929391	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr17:2929391C>T	ENST00000254695.8	+	20	1931	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P595L|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P614L|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P599L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	614	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)	p.P614L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCAGCTCTCCGGAAATCTGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											46	50	49					17																	2929391		2028	4182	6210	2876141	SO:0001583	missense	23108			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1841C>T	17.37:g.2929391C>T	ENSP00000254695:p.Pro614Leu		2876141	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132956	0.94517	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.97976	-4.64;-4.58;-4.62;-4.64	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.98770	0.9586	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99831	1.1054	10	0.87932	D	0	-29.2337	18.3392	0.90299	0.0:1.0:0.0:0.0	.	599;614	Q684P5-2;Q684P5	.;RPGP2_HUMAN	L	614;599;595;614	ENSP00000254695:P614L;ENSP00000389824:P599L;ENSP00000439688:P595L;ENSP00000444890:P614L	ENSP00000254695:P614L	P	+	2	0	RAP1GAP2	2876141	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.012000	0.76366	2.599000	0.87857	0.561000	0.74099	CCG		0.582	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			T	2929391	C	T	2929391	3	4	11	1	0	0	0	0	1	0	0	0	13041	652	23	1	1919	1	RAP1GAP2	17	2929391	Missense_Mutation	SNP	C	TCGA-04-1349-01A-01W-0494-09		2929391	78265819	30	675											
TP53	7157	genome.wustl.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		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"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	17	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	7518284	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.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		7518284	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	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577559	G	A	7577559	3	1	11	1	0	0	0	0	1	0	0	0	16381	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09	4648168	7577559	73617651	31	676											
FARSA	2193	genome.wustl.edu	37	19	13041497	13041497	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr19:13041497G>A	ENST00000314606.4	-	2	232	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	FARSA_ENST00000588025.1_Missense_Mutation_p.R112W|FARSA_ENST00000423140.2_Missense_Mutation_p.R72W|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	72					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.R72W(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CTGCCCTCCCGGGCAATCTCC	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											50	47	48					19																	13041497		2203	4300	6503	12902497	SO:0001583	missense	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.214C>T	19.37:g.13041497G>A	ENSP00000320309:p.Arg72Trp		12902497	B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993712	0.74703	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.64803	-0.12;0.48	5.51	3.26	0.37387	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.393378	0.29178	N	0.012901	T	0.56920	0.2018	L	0.53249	1.67	0.40851	D	0.983757	P;P	0.46220	0.846;0.874	B;B	0.42959	0.339;0.403	T	0.62784	-0.6781	10	0.66056	D	0.02	-11.8343	9.9016	0.41351	0.0779:0.1397:0.7823:0.0	.	72;72	B4E363;Q9Y285	.;SYFA_HUMAN	W	72	ENSP00000320309:R72W;ENSP00000396548:R72W	ENSP00000320309:R72W	R	-	1	2	FARSA	12902497	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.449000	0.66619	1.342000	0.45619	0.561000	0.74099	CGG		0.627	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		A	13041497	G	A	13041497	3	1	11	1	0	0	0	0	1	0	0	0	5679	1115	39	1	1360	1	FARSA	19	13041497	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09		13041497	46087486	32	677											
NCAM2	4685	genome.wustl.edu	37	21	22652946	22652946	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr21:22652946G>C	ENST00000400546.1	+	2	353	c.104G>C	c.(103-105)gGa>gCa	p.G35A	NCAM2_ENST00000535285.1_Missense_Mutation_p.G60A|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	35	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G35A(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTTAGTGTTGGAGAATCTAAA	0.303																																																1	Substitution - Missense(1)	ovary(1)	21											68	65	66					21																	22652946		1806	4075	5881	21574817	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.104G>C	21.37:g.22652946G>C	ENSP00000383392:p.Gly35Ala		21574817	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715640	0.89112	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.81247	-1.47;-1.47	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.100536	0.64402	D	0.000002	D	0.91603	0.7347	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92609	0.6098	10	0.87932	D	0	-21.0832	18.4708	0.90774	0.0:0.0:1.0:0.0	.	60;35	B7Z841;O15394	.;NCAM2_HUMAN	A	35;60	ENSP00000383392:G35A;ENSP00000441887:G60A	ENSP00000383392:G35A	G	+	2	0	NCAM2	21574817	1.000000	0.71417	0.981000	0.43875	0.961000	0.63080	8.066000	0.89486	2.718000	0.92993	0.585000	0.79938	GGA		0.303	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		C	22652946	G	C	22652946	3	2	11	1	0	0	0	0	1	0	0	0	10203	1174	41	3	110	3	NCAM2	21	22652946	Missense_Mutation	SNP	G	TCGA-04-1349-01A-01W-0494-09		22652946	25476949	33	678											
TTC3	7267	genome.wustl.edu	37	21	38497001	38497001	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr21:38497001A>G	ENST00000399017.2	+	14	3939	c.1192A>G	c.(1192-1194)Att>Gtt	p.I398V	TTC3_ENST00000354749.2_Missense_Mutation_p.I398V|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.I88V|TTC3_ENST00000355666.1_Missense_Mutation_p.I398V	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	398					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I398V(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTCAGAAAAATTAATCACGA	0.363																																					Ovarian(38;194 1649 35661)											1	Substitution - Missense(1)	ovary(1)	21											68	70	69					21																	38497001		2203	4299	6502	37418871	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1192A>G	21.37:g.38497001A>G	ENSP00000381981:p.Ile398Val		37418871	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	A	0.086	-1.174778	0.01646	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.41758	1.38;1.38;1.38;3.15;0.99;3.15;3.15	4.6	-1.85	0.07784	.	0.729483	0.12672	N	0.448703	T	0.12902	0.0313	N	0.02539	-0.55	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.28744	-1.0034	10	0.12430	T	0.62	-1.8982	4.3683	0.11235	0.3865:0.3356:0.2779:0.0	.	88;398	B4DSZ9;P53804	.;TTC3_HUMAN	V	398;398;380;398;88;398;398	ENSP00000403943:I398V;ENSP00000408456:I398V;ENSP00000391891:I380V;ENSP00000347889:I398V;ENSP00000442875:I88V;ENSP00000381981:I398V;ENSP00000346791:I398V	ENSP00000346791:I398V	I	+	1	0	TTC3	37418871	0.004000	0.15560	0.018000	0.16275	0.380000	0.30137	-0.025000	0.12413	-0.306000	0.08818	-0.250000	0.11733	ATT		0.363	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			G	38497001	A	G	38497001	3	3	11	1	0	0	0	0	1	0	0	0	16697	101	4	4	1242	4	TTC3	21	38497001	Missense_Mutation	SNP	A	TCGA-04-1349-01A-01W-0494-09	15844055	38497001	9632894	34	679											
CBX7	23492	genome.wustl.edu	37	22	39530037	39530037	+	Silent	SNP	G	G	T	rs201404123		TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr22:39530037G>T	ENST00000216133.5	-	6	820	c.615C>A	c.(613-615)gcC>gcA	p.A205A	CBX7_ENST00000401405.3_Silent_p.A112A|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	205					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)	p.A205A(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GGGGCCCCTCGGCCAGGTCGG	0.657																																					GBM(46;845 904 3560 9866 23971)											1	Substitution - coding silent(1)	ovary(1)	22											62	66	64					22																	39530037		2203	4300	6503	37859983	SO:0001819	synonymous_variant	23492				CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.615C>A	22.37:g.39530037G>T			37859983	Q86T17	Silent	SNP	ENST00000216133.5	37	CCDS13986.1																																																																																				0.657	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318020.1	NM_175709		T	39530037	G	T	39530037	2	4	11	1	0	0	0	0	0	0	0	1	2723	1103	39	3		3	CBX7	22	39530037	Silent	SNP	G	TCGA-04-1349-01A-01W-0494-09		39530037	11774529	35	680											
KIAA1644	85352	genome.wustl.edu	37	22	44692680	44692680	+	Silent	SNP	C	C	T	rs565301340		TCGA-04-1349-01A-01W-0494-09	TCGA-04-1349-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e456f707-f0a0-4624-98bc-e9dfe779182b	697786b0-4757-40a7-9650-8c2f2e1774db	g.chr22:44692680C>T	ENST00000381176.4	-	3	285	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	51						integral component of membrane (GO:0016021)		p.S51S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TCTTGTTGTCCGAGAGCCGGG	0.537													C|||	1	0.000199681	0	0	5008	,	,		20792	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	22											164	184	177					22																	44692680		2125	4234	6359	43024013	SO:0001819	synonymous_variant	85352			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.153G>A	22.37:g.44692680C>T			43024013	A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Silent	SNP	ENST00000381176.4	37	CCDS43025.1																																																																																				0.537	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		T	44692680	C	T	44692680	2	4	11	1	0	0	0	0	0	0	0	1	8250	639	23	1		1	KIAA1644	22	44692680	Silent	SNP	C	TCGA-04-1349-01A-01W-0494-09	5162643	44692680	6611886	36	681											
TNNI3K	100526835	hgsc.bcm.edu	37	1	74929181	74929181	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr1:74929181A>T	ENST00000370899.3	+	23	2408	c.2371A>T	c.(2371-2373)Att>Ttt	p.I791F	TNNI3K_ENST00000326637.3_Missense_Mutation_p.I690F|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.I804F|TNNI3K_ENST00000370891.2_Missense_Mutation_p.I791F	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.I690F(1)									TGGCTATTCCATTCCCAAGCC	0.438																																																1	Substitution - Missense(1)	ovary(1)	1											183	168	173					1																	74929181		2203	4300	6503	74701769	SO:0001583	missense	51086					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2371A>T	1.37:g.74929181A>T	ENSP00000359936:p.Ile791Phe		74701769		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	A	11.15	1.553703	0.27739	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.91	4.78	0.61160	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	N	0.21142	0.635	0.58432	D	0.999996	B;B;B	0.31931	0.116;0.347;0.095	B;B;B	0.28011	0.085;0.069;0.051	T	0.55392	-0.8148	10	0.21014	T	0.42	.	11.7107	0.51623	0.9304:0.0:0.0696:0.0	.	690;791;791	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	F	791;791;791;690	ENSP00000359936:I791F;ENSP00000450895:I791F;ENSP00000359928:I791F;ENSP00000322251:I690F	ENSP00000322251:I690F	I	+	1	0	RP11-653A5.2;AC093158.1	74701769	1.000000	0.71417	0.690000	0.30148	0.571000	0.35966	5.656000	0.67988	1.056000	0.40484	0.533000	0.62120	ATT		0.438	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			T	74929181	A	T	74929181	3	4	12	1	0	0	0	0	1	0	0	0	16329	217	8	5	2505	5	TNNI3K	1	74929181	Missense_Mutation	SNP	A	TCGA-04-1350-01A-01W-0490-10		74929181	174321440	1	682											
WDR47	22911	hgsc.bcm.edu	37	1	109538235	109538235	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr1:109538235G>C	ENST00000369962.3	-	8	1880	c.1658C>G	c.(1657-1659)cCt>cGt	p.P553R	WDR47_ENST00000369965.4_Missense_Mutation_p.P554R|WDR47_ENST00000361054.3_Missense_Mutation_p.P525R|WDR47_ENST00000357672.3_Missense_Mutation_p.P525R|WDR47_ENST00000400794.3_Missense_Mutation_p.P561R			O94967	WDR47_HUMAN	WD repeat domain 47	553					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.P554R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTCCAGAAAAGGTATGTGATT	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											220	222	222					1																	109538235		2203	4296	6499	109339758	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1658C>G	1.37:g.109538235G>C	ENSP00000358979:p.Pro553Arg		109339758	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258443	0.80246	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58940	0.35;0.3;0.35;0.35;0.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	L	0.34521	1.04	0.80722	D	1	P;P;P;D	0.57571	0.85;0.766;0.875;0.98	B;B;B;P	0.56700	0.325;0.243;0.307;0.804	T	0.39603	-0.9606	10	0.23891	T	0.37	-10.856	19.7779	0.96402	0.0:0.0:1.0:0.0	.	525;561;553;554	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	R	561;553;525;554;525	ENSP00000383599:P561R;ENSP00000358979:P553R;ENSP00000354339:P525R;ENSP00000358982:P554R;ENSP00000350301:P525R	ENSP00000350301:P525R	P	-	2	0	WDR47	109339758	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.122000	0.77169	2.748000	0.94277	0.462000	0.41574	CCT		0.373	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		C	109538235	G	C	109538235	3	2	12	1	0	0	0	0	1	0	0	0	17300	1000	35	3	1133	3	WDR47	1	109538235	Missense_Mutation	SNP	G	TCGA-04-1350-01A-01W-0490-10	34609054	109538235	139712386	2	683											
ASTN1	460	hgsc.bcm.edu	37	1	176838004	176838004	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr1:176838004C>T	ENST00000367654.3	-	22	3858	c.3647G>A	c.(3646-3648)cGa>cAa	p.R1216Q	ASTN1_ENST00000361833.2_Missense_Mutation_p.R1208Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1208Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R1208Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1216					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R1208Q(3)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCCTCACATCGCCAGGTGAA	0.468																																																3	Substitution - Missense(3)	ovary(1)|large_intestine(1)|endometrium(1)	1											119	117	117					1																	176838004		2203	4300	6503	175104627	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3647G>A	1.37:g.176838004C>T	ENSP00000356626:p.Arg1216Gln		175104627	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	36	5.937872	0.97122	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.27557	1.66;2.07;2.07;1.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.43343	-0.9397	10	0.87932	D	0	-29.5501	19.9003	0.96983	0.0:1.0:0.0:0.0	.	1208;1208	O14525-2;B1AJS1	.;.	Q	1208;1208;1216;1208;1208	ENSP00000356629:R1208Q;ENSP00000354536:R1208Q;ENSP00000356626:R1216Q;ENSP00000395041:R1208Q	ENSP00000354536:R1208Q	R	-	2	0	ASTN1	175104627	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.679000	0.84048	2.808000	0.96608	0.655000	0.94253	CGA		0.468	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	176838004	C	T	176838004	3	4	12	1	0	0	0	0	1	0	0	0	1064	884	31	1	273	1	ASTN1	1	176838004	Missense_Mutation	SNP	C	TCGA-04-1350-01A-01W-0490-10	67299769	176838004	72412617	3	684											
HMCN1	83872	hgsc.bcm.edu	37	1	185880900	185880900	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr1:185880900G>A	ENST00000271588.4	+	6	1117	c.888G>A	c.(886-888)atG>atA	p.M296I	HMCN1_ENST00000367492.2_Missense_Mutation_p.M296I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	296					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.M296I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGCTGGAATGTGGACAGTGA	0.358																																																1	Substitution - Missense(1)	ovary(1)	1											152	167	162					1																	185880900		2203	4300	6503	184147523	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.888G>A	1.37:g.185880900G>A	ENSP00000271588:p.Met296Ile		184147523	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141310	0.37825	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.62788	0.01;0.0	5.63	2.63	0.31362	.	0.243312	0.53938	N	0.000060	T	0.42177	0.1191	N	0.24115	0.695	0.49687	D	0.999812	B	0.02656	0.0	B	0.04013	0.001	T	0.12426	-1.0548	10	0.30078	T	0.28	.	6.6753	0.23090	0.2379:0.1297:0.6325:0.0	.	296	Q96RW7	HMCN1_HUMAN	I	296	ENSP00000271588:M296I;ENSP00000356462:M296I	ENSP00000271588:M296I	M	+	3	0	HMCN1	184147523	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	2.401000	0.44513	0.356000	0.24157	0.555000	0.69702	ATG		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	185880900	G	A	185880900	3	1	12	1	0	0	0	0	1	0	0	0	7220	1377	48	2	910	2	HMCN1	1	185880900	Missense_Mutation	SNP	G	TCGA-04-1350-01A-01W-0490-10	9042896	185880900	63369721	4	685											
KCNIP3	30818	hgsc.bcm.edu	37	2	96040068	96040068	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr2:96040068T>C	ENST00000295225.5	+	3	341	c.206T>C	c.(205-207)cTg>cCg	p.L69P	KCNIP3_ENST00000468529.1_Missense_Mutation_p.L43P|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Missense_Mutation_p.L69P	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	69	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)	p.L69P(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GAGCTGGAGCTGTCCACGGTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											79	75	77					2																	96040068		2203	4300	6503	95403795	SO:0001583	missense	30818			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.206T>C	2.37:g.96040068T>C	ENSP00000295225:p.Leu69Pro		95403795	H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896245	0.91962	.	.	ENSG00000115041	ENST00000295225;ENST00000360990;ENST00000468529	T;T;T	0.75704	1.98;-0.96;-0.61	5.39	5.39	0.77823	.	0.141559	0.48767	D	0.000180	T	0.81083	0.4749	L	0.52759	1.655	0.80722	D	1	D;D	0.65815	0.98;0.995	P;D	0.63793	0.804;0.918	T	0.82697	-0.0329	10	0.66056	D	0.02	.	13.3547	0.60621	0.0:0.0:0.0:1.0	.	43;69	Q9Y2W7-3;Q9Y2W7	.;CSEN_HUMAN	P	69;69;43	ENSP00000295225:L69P;ENSP00000354261:L69P;ENSP00000417499:L43P	ENSP00000295225:L69P	L	+	2	0	KCNIP3	95403795	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.924000	0.87555	2.037000	0.60232	0.459000	0.35465	CTG		0.597	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		C	96040068	T	C	96040068	3	2	12	1	0	0	0	0	1	0	0	0	8041	1580	55	4	323	4	KCNIP3	2	96040068	Missense_Mutation	SNP	T	TCGA-04-1350-01A-01W-0490-10		96040068	147159305	5	686											
GORASP1	64689	hgsc.bcm.edu	37	3	39139971	39139971	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:39139971G>C	ENST00000319283.3	-	9	1900	c.1079C>G	c.(1078-1080)aCa>aGa	p.T360R	GORASP1_ENST00000476334.1_5'UTR|GORASP1_ENST00000479927.1_Missense_Mutation_p.T265R|GORASP1_ENST00000422110.2_Missense_Mutation_p.T205R	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	360					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)		p.T360R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCAGACCATGTAGCCTCACC	0.602																																																1	Substitution - Missense(1)	ovary(1)	3											45	44	45					3																	39139971		2203	4300	6503	39114975	SO:0001583	missense	64689			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"golgi phosphoprotein 5"	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.1079C>G	3.37:g.39139971G>C	ENSP00000313869:p.Thr360Arg		39114975	B3KWC8|Q3SYG7|Q8N272|Q96H42	Missense_Mutation	SNP	ENST00000319283.3	37	CCDS2681.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787565	0.70337	.	.	ENSG00000114745	ENST00000319283;ENST00000422110;ENST00000479927	T;T;T	0.56776	0.71;0.44;0.61	4.53	4.53	0.55603	.	0.407288	0.25660	N	0.029159	T	0.68933	0.3055	M	0.67953	2.075	0.38604	D	0.950731	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.994;0.998;0.946	T	0.73322	-0.4019	10	0.62326	D	0.03	-6.8404	12.933	0.58296	0.0:0.0:1.0:0.0	.	265;205;360	B4E1H8;B3KPY8;Q9BQQ3	.;.;GORS1_HUMAN	R	360;205;265	ENSP00000313869:T360R;ENSP00000395709:T205R;ENSP00000419123:T265R	ENSP00000313869:T360R	T	-	2	0	GORASP1	39114975	0.997000	0.39634	0.982000	0.44146	0.968000	0.65278	4.050000	0.57404	2.497000	0.84241	0.650000	0.86243	ACA		0.602	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1			C	39139971	G	C	39139971	3	2	12	1	0	0	0	0	1	0	0	0	6575	1377	48	3	247	3	GORASP1	3	39139971	Missense_Mutation	SNP	G	TCGA-04-1350-01A-01W-0490-10		39139971	158882459	6	687											
RHOA	387	hgsc.bcm.edu	37	3	49412973	49412973	+	Missense_Mutation	SNP	C	C	A	rs11552761		TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:49412973C>A	ENST00000418115.1	-	2	434	c.50G>T	c.(49-51)gGa>gTa	p.G17V	RHOA_ENST00000454011.2_Missense_Mutation_p.G17V|RHOA_ENST00000422781.1_Missense_Mutation_p.G17V	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	17					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.G17V(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCATGTCTTTCCACAGGCTCC	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											140	126	130					3																	49412973		2203	4300	6503	49387977	SO:0001583	missense	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.50G>T	3.37:g.49412973C>A	ENSP00000400175:p.Gly17Val		49387977	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064454	0.93898	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	H	0.98664	4.295	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	D	0.98586	1.0652	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	17	P61586	RHOA_HUMAN	V	17	ENSP00000400175:G17V;ENSP00000394483:G17V;ENSP00000413587:G17V;ENSP00000408402:G17V;ENSP00000400747:G17V	ENSP00000400175:G17V	G	-	2	0	RHOA	49387977	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.652000	0.83633	2.809000	0.96659	0.558000	0.71614	GGA		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		A	49412973	C	A	49412973	3	1	12	1	0	0	0	0	1	0	0	0	13334	855	30	3	547	3	RHOA	3	49412973	Missense_Mutation	SNP	C	TCGA-04-1350-01A-01W-0490-10	10273002	49412973	148609457	7	688											
CLDN18	51208	hgsc.bcm.edu	37	3	137717810	137717810	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:137717810G>A	ENST00000343735.4	+	1	234	c.100G>A	c.(100-102)Gac>Aac	p.D34N		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	34					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.D34N(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GAGCACCCAAGACTTGTACAA	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											132	114	120					3																	137717810		2203	4300	6503	139200500	SO:0001583	missense	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.100G>A	3.37:g.137717810G>A	ENSP00000340939:p.Asp34Asn		139200500	A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000343735.4	37	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615145	0.66672	.	.	ENSG00000066405	ENST00000343735	D	0.88896	-2.44	4.13	4.13	0.48395	.	0.146390	0.45361	D	0.000372	D	0.92890	0.7738	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90862	0.4739	9	0.21014	T	0.42	.	16.9489	0.86239	0.0:0.0:1.0:0.0	.	34	P56856-2	.	N	34	ENSP00000340939:D34N	ENSP00000340939:D34N	D	+	1	0	CLDN18	139200500	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.143000	0.89621	2.299000	0.77371	0.563000	0.77884	GAC		0.582	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		A	137717810	G	A	137717810	3	1	12	1	0	0	0	0	1	0	0	0	3479	942	33	2	102	2	CLDN18	3	137717810	Missense_Mutation	SNP	G	TCGA-04-1350-01A-01W-0490-10	88304837	137717810	60304620	8	689											
SR140	23350	hgsc.bcm.edu	37	3	142753779	142753779	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:142753779C>T	ENST00000473835.2	+	19	1993	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	U2SURP_ENST00000397933.2_Missense_Mutation_p.R226C|U2SURP_ENST00000493598.2_Missense_Mutation_p.R634C	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	635	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R635C(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGCCACCTATCGTACAATTCA	0.318																																																1	Substitution - Missense(1)	ovary(1)	3											65	68	67					3																	142753779		1828	4088	5916	144236469	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1903C>T	3.37:g.142753779C>T	ENSP00000418563:p.Arg635Cys		144236469	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615257	0.87359	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029	T;T	0.12039	2.72;2.73	5.6	5.6	0.85130	ENTH/VHS (1);RNA polymerase II, large subunit, CTD (2);	0.047990	0.85682	D	0.000000	T	0.28797	0.0714	L	0.47190	1.495	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	P;D;P	0.64144	0.825;0.922;0.673	T	0.00379	-1.1777	10	0.72032	D	0.01	-11.0851	14.4462	0.67352	0.1472:0.8528:0.0:0.0	.	634;226;635	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	C	635;635;226;634;202	ENSP00000418563:R635C;ENSP00000422011:R634C	ENSP00000322376:R635C	R	+	1	0	U2SURP	144236469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.237000	0.65360	2.635000	0.89317	0.650000	0.86243	CGT		0.318	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		T	142753779	C	T	142753779	3	4	12	1	0	0	0	0	1	0	0	0	15133	884	31	1	1977	1	SR140	3	142753779	Missense_Mutation	SNP	C	TCGA-04-1350-01A-01W-0490-10	5035969	142753779	55268651	9	690											
SGEF	26084	hgsc.bcm.edu	37	3	153943692	153943692	+	Silent	SNP	A	A	G			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr3:153943692A>G	ENST00000356448.4	+	11	2267	c.1983A>G	c.(1981-1983)gaA>gaG	p.E661E	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.E661E|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	661	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E661E(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAAGAGGTGAATTGACAGCCT	0.398																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											1	Substitution - coding silent(1)	ovary(1)	3											164	144	151					3																	153943692		1872	4104	5976	155426382	SO:0001819	synonymous_variant	26084			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1983A>G	3.37:g.153943692A>G			155426382	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP	ENST00000356448.4	37	CCDS46938.1																																																																																				0.398	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		G	153943692	A	G	153943692	2	3	12	1	0	0	0	0	0	0	0	1	14208	98	4	4		4	SGEF	3	153943692	Silent	SNP	A	TCGA-04-1350-01A-01W-0490-10	11189913	153943692	44078738	10	691											
DNAH5	1767	hgsc.bcm.edu	37	5	13777370	13777373	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	TGTC	TGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr5:13777370_13777373delTGTC	ENST00000265104.4	-	54	9147_9150	c.9043_9046delGACA	c.(9043-9048)gacaatfs	p.DN3015fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3015	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3015fs*12(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAATCTCATTGTCTGTGAAAATA	0.343									Kartagener syndrome																																							1	Deletion - Frameshift(1)	ovary(1)	5																																								13830373	SO:0001589	frameshift_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9043_9046delGACA	5.37:g.13777370_13777373delTGTC	ENSP00000265104:p.Asp3015fs		13830370	Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	CCDS3882.1																																																																																				0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		-	13777373	TGTC	-	13777370	7	5	12	1	0	1	0	1	0	0	0	0	4604	1812	63	0	4932	0	DNAH5	5	13777370	Frame_Shift_Del	DEL	TGTC	TCGA-04-1350-01A-01W-0490-10		13777370	167137890	11	692											
CDH6	1004	hgsc.bcm.edu	37	5	31323161	31323161	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr5:31323161C>T	ENST00000265071.2	+	12	2384	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	707					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R707C(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCAACAGCTCGCGACAACAC	0.522																																																1	Substitution - Missense(1)	ovary(1)	5											71	69	70					5																	31323161		2203	4300	6503	31358918	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2119C>T	5.37:g.31323161C>T	ENSP00000265071:p.Arg707Cys		31358918	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053313	0.55218	.	.	ENSG00000113361	ENST00000265071	T	0.77358	-1.09	5.66	3.88	0.44766	Cadherin, cytoplasmic domain (1);	1.041290	0.07442	N	0.897520	D	0.83078	0.5176	L	0.43152	1.355	0.24203	N	0.995504	D	0.76494	0.999	P	0.61658	0.892	T	0.69335	-0.5172	10	0.62326	D	0.03	.	12.091	0.53726	0.0:0.8138:0.1208:0.0654	.	707	P55285	CADH6_HUMAN	C	707	ENSP00000265071:R707C	ENSP00000265071:R707C	R	+	1	0	CDH6	31358918	1.000000	0.71417	0.054000	0.19295	0.987000	0.75469	5.981000	0.70524	0.859000	0.35456	0.655000	0.94253	CGC		0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		T	31323161	C	T	31323161	3	4	12	1	0	0	0	0	1	0	0	0	3114	884	31	1	2161	1	CDH6	5	31323161	Missense_Mutation	SNP	C	TCGA-04-1350-01A-01W-0490-10	17545791	31323161	149592099	12	693											
C5orf42	65250	hgsc.bcm.edu	37	5	37185035	37185035	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr5:37185035G>C	ENST00000508244.1	-	24	4429	c.4336C>G	c.(4336-4338)Cca>Gca	p.P1446A	C5orf42_ENST00000274258.7_Missense_Mutation_p.P327A|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1446A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1446						integral component of membrane (GO:0016021)		p.P327A(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCAACACCTGGAGCCTCATCT	0.433																																																1	Substitution - Missense(1)	ovary(1)	5											157	138	145					5																	37185035		2203	4300	6503	37220792	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4336C>G	5.37:g.37185035G>C	ENSP00000421690:p.Pro1446Ala		37220792	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	0.562	-0.845038	0.02671	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	6.08	-0.00465	0.14021	.	1.367400	0.04786	N	0.430692	T	0.43634	0.1256	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.003;0.004	T	0.25047	-1.0143	10	0.02654	T	1	.	3.6991	0.08375	0.1776:0.3291:0.3894:0.1039	.	1446;327	E9PH94;Q9H799	.;CE042_HUMAN	A	1446;1446;327;494;327	ENSP00000421690:P1446A;ENSP00000389014:P1446A;ENSP00000274258:P327A;ENSP00000424223:P494A	ENSP00000274258:P327A	P	-	1	0	C5orf42	37220792	0.003000	0.15002	0.000000	0.03702	0.543000	0.35085	0.978000	0.29488	-0.295000	0.08960	0.591000	0.81541	CCA		0.433	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37185035	G	C	37185035	3	2	12	1	0	0	0	0	1	0	0	0	2301	1174	41	3	5369	3	C5orf42	5	37185035	Missense_Mutation	SNP	G	TCGA-04-1350-01A-01W-0490-10	5861874	37185035	143730225	13	694											
STK10	6793	hgsc.bcm.edu	37	5	171520740	171520740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr5:171520740delC	ENST00000176763.5	-	9	1573	c.1230delG	c.(1228-1230)ctgfs	p.L410fs	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	410					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R411fs*14(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGACTTCCGCAGGGGCACAG	0.627																																																1	Deletion - Frameshift(1)	ovary(1)	5											39	38	38					5																	171520740		2203	4300	6503	171453345	SO:0001589	frameshift_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1230delG	5.37:g.171520740delC	ENSP00000176763:p.Leu410fs		171453345	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Del	DEL	ENST00000176763.5	37	CCDS34290.1																																																																																				0.627	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		-	171520740	C	-	171520740	7	5	12	1	0	1	0	1	0	0	0	0	15288	697	25	0	1720	0	STK10	5	171520740	Frame_Shift_Del	DEL	C	TCGA-04-1350-01A-01W-0490-10	134335705	171520740	9394520	14	695											
PPARD	5467	hgsc.bcm.edu	37	6	35392166	35392166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr6:35392166C>T	ENST00000311565.4	+	8	1037	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	PPARD_ENST00000444397.1_Nonsense_Mutation_p.Q230*|PPARD_ENST00000448077.2_Nonsense_Mutation_p.Q191*|PPARD_ENST00000418635.2_Nonsense_Mutation_p.Q132*|PPARD_ENST00000360694.3_Nonsense_Mutation_p.Q230*|PPARD_ENST00000540939.1_Nonsense_Mutation_p.Q127*|PPARD_ENST00000337400.2_Nonsense_Mutation_p.Q230*	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	230					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Q230*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGTGTGGAAGCAGTTGGTGAA	0.587																																																1	Substitution - Nonsense(1)	ovary(1)	6											61	56	57					6																	35392166		2203	4300	6503	35500144	SO:0001587	stop_gained	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.688C>T	6.37:g.35392166C>T	ENSP00000310928:p.Gln230*		35500144	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Nonsense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	37	6.141382	0.97320	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	.	.	.	5.82	5.82	0.92795	.	0.124247	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	.	.	.	X	191;230;132;230;230;230;127	.	ENSP00000310928:Q230X	Q	+	1	0	PPARD	35500144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CAG		0.587	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		T	35392166	C	T	35392166	4	4	12	1	0	0	0	0	0	1	0	0	12298	711	25	2	723	2	PPARD	6	35392166	Nonsense_Mutation	SNP	C	TCGA-04-1350-01A-01W-0490-10		35392166	135722901	15	696											
PINX1	54984	hgsc.bcm.edu	37	8	10623415	10623415	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr8:10623415A>C	ENST00000314787.3	-	7	602	c.483T>G	c.(481-483)agT>agG	p.S161R	CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_Missense_Mutation_p.S136A|PINX1_ENST00000426190.2_Missense_Mutation_p.S134A|CTD-2135J3.3_ENST00000506149.2_RNA	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	161					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)	p.S161R(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GAGTGGAGGGACTGGCATCGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	8											124	132	129					8																	10623415		2107	4218	6325	10660825	SO:0001583	missense	54984			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"G patch domain containing"	30046	protein-coding gene	gene with protein product	"PIN2 interacting protein 1", "liver-related putative tumor suppressor"	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.483T>G	8.37:g.10623415A>C	ENSP00000318966:p.Ser161Arg		10660825	B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	CCDS47801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.94|11.94	1.787658|1.787658	0.31593|0.31593	.|.	.|.	ENSG00000254093|ENSG00000254093	ENST00000426190;ENST00000519088|ENST00000314787;ENST00000524114	.|T;T	.|0.17528	.|2.27;2.78	5.7|5.7	-1.24|-1.24	0.09435|0.09435	.|.	0.377447|0.377447	0.34314|0.34314	N|N	0.004067|0.004067	T|T	0.29423|0.29423	0.0733|0.0733	M|M	0.80183|0.80183	2.485|2.485	0.09310|0.09310	N|N	1|1	B|D	0.06786|0.61697	0.001|0.99	B|P	0.01281|0.61533	0.0|0.89	T|T	0.08764|0.08764	-1.0706|-1.0706	9|10	0.36615|0.33141	T|T	0.2|0.24	.|.	4.4493|4.4493	0.11612|0.11612	0.3771:0.3022:0.3207:0.0|0.3771:0.3022:0.3207:0.0	.|.	136|161	Q96BK5-2|Q96BK5	.|PINX1_HUMAN	A|R	134;136|161;171	.|ENSP00000318966:S161R;ENSP00000428728:S171R	ENSP00000411396:S134A|ENSP00000318966:S161R	S|S	-|-	1|3	0|2	PINX1|PINX1	10660825|10660825	0.000000|0.000000	0.05858|0.05858	0.133000|0.133000	0.22050|0.22050	0.006000|0.006000	0.05464|0.05464	-0.089000|-0.089000	0.11180|0.11180	0.052000|0.052000	0.16007|0.16007	-0.242000|-0.242000	0.12053|0.12053	TCC|AGT		0.582	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		C	10623415	A	C	10623415	3	2	12	1	0	0	0	0	1	0	0	0	11933	272	10	5	507	5	PINX1	8	10623415	Missense_Mutation	SNP	A	TCGA-04-1350-01A-01W-0490-10		10623415	135740607	16	697											
SLC39A12	221074	hgsc.bcm.edu	37	10	18270411	18270411	+	Splice_Site	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr10:18270411G>C	ENST00000377369.2	+	6	1368	c.1095G>C	c.(1093-1095)gaG>gaC	p.E365D	SLC39A12_ENST00000539911.1_Splice_Site_p.E231D|SLC39A12_ENST00000377371.3_Splice_Site_p.E365D|SLC39A12_ENST00000377374.4_Splice_Site_p.E365D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	365					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.E365D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCACTCTGGAGAGTAAGTTCT	0.443																																																1	Substitution - Missense(1)	ovary(1)	10											51	41	44					10																	18270411		2203	4299	6502	18310417	SO:0001630	splice_region_variant	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1096+1G>C	10.37:g.18270411G>C			18310417	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783954	0.70222	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.66815	-0.09;-0.23;-0.09;-0.16	6.01	2.76	0.32466	.	2.889450	0.00921	N	0.002592	T	0.80330	0.4603	M	0.78637	2.42	0.52501	D	0.999951	D;P;D	0.57899	0.966;0.9;0.981	P;P;P	0.57425	0.82;0.543;0.82	T	0.65051	-0.6262	10	0.54805	T	0.06	-21.3497	9.4051	0.38457	0.3268:0.0:0.6732:0.0	.	365;365;365	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	D	365;365;365;231;285	ENSP00000366586:E365D;ENSP00000366591:E365D;ENSP00000366588:E365D;ENSP00000440445:E231D	ENSP00000366586:E365D	E	+	3	2	SLC39A12	18310417	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.283000	0.33237	0.894000	0.36317	-0.140000	0.14226	GAG		0.443	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	Missense_Mutation	C	18270411	G	C	18270411	5	2	12	1	0	0	0	0	0	0	1	0	14618	956	33	3	1113	3	SLC39A12	10	18270411	Splice_Site	SNP	G	TCGA-04-1350-01A-01W-0490-10		18270411	117264336	17	698											
WDR74	54663	hgsc.bcm.edu	37	11	62601957	62601957	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr11:62601957G>C	ENST00000525239.1	-	8	1198	c.661C>G	c.(661-663)Cta>Gta	p.L221V	RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000311713.7_Missense_Mutation_p.L221V|WDR74_ENST00000278856.4_Missense_Mutation_p.L221V|WDR74_ENST00000525752.1_Missense_Mutation_p.L164V|STX5_ENST00000377897.4_5'Flank|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000294179.3_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000541317.1_5'Flank|WDR74_ENST00000529106.1_Missense_Mutation_p.L221V			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	221					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L221V(1)		kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GTGGTCTCTAGGACTGGCCGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	11											41	46	44					11																	62601957		1975	4160	6135	62358533	SO:0001583	missense	54663				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.661C>G	11.37:g.62601957G>C	ENSP00000432119:p.Leu221Val		62358533	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819512	0.50633	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000005	T	0.37785	0.1016	L	0.49513	1.565	0.38143	D	0.938504	P;D;D	0.59357	0.93;0.985;0.981	P;P;P	0.55577	0.496;0.614;0.779	T	0.25745	-1.0123	10	0.41790	T	0.15	-7.1027	8.0033	0.30310	0.1099:0.0:0.8901:0.0	.	164;221;221	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	V	221;221;221;221;164	ENSP00000308931:L221V;ENSP00000435726:L221V;ENSP00000432119:L221V;ENSP00000278856:L221V;ENSP00000432113:L164V	ENSP00000278856:L221V	L	-	1	2	WDR74	62358533	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	3.120000	0.50430	2.201000	0.70794	0.563000	0.77884	CTA		0.582	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		C	62601957	G	C	62601957	3	2	12	1	0	0	0	0	1	0	0	0	17324	991	35	3	516	3	WDR74	11	62601957	Missense_Mutation	SNP	G	TCGA-04-1350-01A-01W-0490-10		62601957	72404559	18	699											
GRIN2B	2904	hgsc.bcm.edu	37	12	13768146	13768146	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr12:13768146C>T	ENST00000609686.1	-	7	1765	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	519					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R519Q(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACCTCCGATCGTTCCTCATT	0.517																																																2	Substitution - Missense(2)	ovary(2)	12											158	125	136					12																	13768146		2203	4300	6503	13659413	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1556G>A	12.37:g.13768146C>T	ENSP00000477455:p.Arg519Gln		13659413	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	37	6.060417	0.97246	.	.	ENSG00000150086	ENST00000279593	T	0.70631	-0.5	6.17	6.17	0.99709	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92383	0.5915	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	519	Q13224	NMDE2_HUMAN	Q	519	ENSP00000279593:R519Q	ENSP00000279593:R519Q	R	-	2	0	GRIN2B	13659413	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	7.813000	0.86123	2.941000	0.99782	0.655000	0.94253	CGA		0.517	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13768146	C	T	13768146	3	4	12	1	0	0	0	0	1	0	0	0	6780	884	31	1	2926	1	GRIN2B	12	13768146	Missense_Mutation	SNP	C	TCGA-04-1350-01A-01W-0490-10		13768146	120083749	19	700											
ATP8A2	51761	hgsc.bcm.edu	37	13	26043210	26043211	+	Frame_Shift_Ins	INS	-	-	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr13:26043210_26043211insT	ENST00000381655.2	+	2	314_315	c.172_173insT	c.(172-174)attfs	p.I58fs	ATP8A2_ENST00000255283.8_Frame_Shift_Ins_p.I18fs	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	18					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y59fs*32(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CGCCCGCACCATTTACCTCAAC	0.589																																																1	Insertion - Frameshift(1)	ovary(1)	13																																								24941211	SO:0001589	frameshift_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.175dupT	13.37:g.26043213_26043213dupT	ENSP00000371070:p.Ile58fs		24941210	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Frame_Shift_Ins	INS	ENST00000381655.2	37	CCDS41873.1																																																																																				0.589	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		T	26043211	-	T	26043210	7	5	12	1	0	1	1	0	0	0	0	0	1193	217	8	0	178	0	ATP8A2	13	26043210	Frame_Shift_Ins	INS	-	TCGA-04-1350-01A-01W-0490-10		26043210	89126668	20	701											
HTR2A	3356	hgsc.bcm.edu	37	13	47466628	47466628	+	Silent	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr13:47466628C>T	ENST00000378688.4	-	2	641	c.510G>A	c.(508-510)tcG>tcA	p.S170S	HTR2A_ENST00000543956.1_Silent_p.S86S|HTR2A_ENST00000542664.1_Silent_p.S170S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	170					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S170S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGCGGTCCAGCGAGATGGCGC	0.547																																																1	Substitution - coding silent(1)	ovary(1)	13											229	217	221					13																	47466628		2203	4300	6503	46364629	SO:0001819	synonymous_variant	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.510G>A	13.37:g.47466628C>T			46364629	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	CCDS9405.1																																																																																				0.547	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		T	47466628	C	T	47466628	2	4	12	1	0	0	0	0	0	0	0	1	7441	755	27	1		1	HTR2A	13	47466628	Silent	SNP	C	TCGA-04-1350-01A-01W-0490-10	21423418	47466628	67703250	21	702											
RB1	5925	hgsc.bcm.edu	37	13	49030387	49030387	+	Missense_Mutation	SNP	G	G	C	rs373601944		TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr13:49030387G>C	ENST00000267163.4	+	19	2000	c.1862G>C	c.(1861-1863)cGt>cCt	p.R621P		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	621	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.R621P(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCAACTACGCGTGTAAATTCT	0.373		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(10)|Substitution - Missense(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|ovary(1)|liver(1)	13											92	91	91					13																	49030387		2203	4300	6503	47928388	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1862G>C	13.37:g.49030387G>C	ENSP00000267163:p.Arg621Pro		47928388	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684011	0.29872	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91996	-2.95	5.97	5.13	0.70059	.	0.210367	0.42548	D	0.000687	D	0.85396	0.5687	L	0.35723	1.085	0.42662	D	0.993485	B	0.11235	0.004	B	0.04013	0.001	T	0.78375	-0.2228	10	0.21014	T	0.42	.	7.1333	0.25515	0.0701:0.1308:0.6779:0.1212	.	621	P06400	RB_HUMAN	P	600;621	ENSP00000267163:R621P	ENSP00000267163:R621P	R	+	2	0	RB1	47928388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.158000	0.42329	1.527000	0.49086	0.655000	0.94253	CGT		0.373	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			C	49030387	G	C	49030387	3	2	12	1	0	0	0	0	1	0	0	0	13101	1145	40	3	1936	3	RB1	13	49030387	Missense_Mutation	SNP	G	TCGA-04-1350-01A-01W-0490-10	1563759	49030387	66139491	22	703											
FITM1	161247	hgsc.bcm.edu	37	14	24600867	24600867	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr14:24600867delC	ENST00000267426.5	+	1	384	c.95delC	c.(94-96)gccfs	p.A32fs	FITM1_ENST00000559294.1_5'Flank|RP11-468E2.6_ENST00000558325.1_Frame_Shift_Del_p.G219fs	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	32					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.S33fs*57(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTCTGGGTGGCCTCTGCCTTG	0.687																																																1	Deletion - Frameshift(1)	ovary(1)	14											32	36	35					14																	24600867		2203	4300	6503	23670707	SO:0001589	frameshift_variant	161247				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"fat-inducing transcript 1"	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.95delC	14.37:g.24600867delC	ENSP00000267426:p.Ala32fs		23670707	Q8IUQ7	Frame_Shift_Del	DEL	ENST00000267426.5	37	CCDS9611.1																																																																																				0.687	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		-	24600867	C	-	24600867	7	5	12	1	0	1	0	1	0	0	0	0	5898	739	26	0	97	0	FITM1	14	24600867	Frame_Shift_Del	DEL	C	TCGA-04-1350-01A-01W-0490-10		24600867	82748673	23	704											
TECPR2	9895	hgsc.bcm.edu	37	14	102900803	102900803	+	Frame_Shift_Del	DEL	T	T	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr14:102900803delT	ENST00000359520.7	+	9	1875	c.1649delT	c.(1648-1650)ctgfs	p.L550fs	TECPR2_ENST00000558678.1_Frame_Shift_Del_p.L550fs	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	550					autophagy (GO:0006914)|cell death (GO:0008219)			p.L550fs*96(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TTTAATGTCCTGGAGGTGTCA	0.493																																																1	Deletion - Frameshift(1)	ovary(1)	14											86	88	87					14																	102900803		2203	4300	6503	101970556	SO:0001589	frameshift_variant	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1649delT	14.37:g.102900803delT	ENSP00000352510:p.Leu550fs		101970556	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Frame_Shift_Del	DEL	ENST00000359520.7	37	CCDS32162.1																																																																																				0.493	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		-	102900803	T	-	102900803	7	5	12	1	0	1	0	1	0	0	0	0	15744	1580	55	0	1679	0	TECPR2	14	102900803	Frame_Shift_Del	DEL	T	TCGA-04-1350-01A-01W-0490-10	78299936	102900803	4448737	24	705											
PLA2G4D	283748	hgsc.bcm.edu	37	15	42377337	42377337	+	Splice_Site	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr15:42377337C>T	ENST00000290472.3	-	6	523		c.e6-1			NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.?(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCGATCTGACCTGGAAAAATC	0.572																																																1	Unknown(1)	ovary(1)	15											128	119	122					15																	42377337		2203	4299	6502	40164629	SO:0001630	splice_region_variant	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.429-1G>A	15.37:g.42377337C>T			40164629	Q8N176	Splice_Site	SNP	ENST00000290472.3	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814511	0.70912	.	.	ENSG00000159337	ENST00000290472	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1063	0.72324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4D	40164629	0.956000	0.32656	0.992000	0.48379	0.921000	0.55340	2.779000	0.47734	2.344000	0.79699	0.655000	0.94253	.		0.572	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	Intron	T	42377337	C	T	42377337	5	4	12	1	0	0	0	0	0	0	1	0	12004	695	24	2	2088	2	PLA2G4D	15	42377337	Splice_Site	SNP	C	TCGA-04-1350-01A-01W-0490-10		42377337	60154055	25	706											
CREBBP	1387	hgsc.bcm.edu	37	16	3820801	3820801	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr16:3820801C>T	ENST00000262367.5	-	14	3459	c.2650G>A	c.(2650-2652)Gct>Act	p.A884T	CREBBP_ENST00000382070.3_Missense_Mutation_p.A846T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	884					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A884T(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGTGGGAGCTGCTGGCTGG	0.637			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	ovary(1)	16											80	72	75					16																	3820801		2197	4300	6497	3760802	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2650G>A	16.37:g.3820801C>T	ENSP00000262367:p.Ala884Thr		3760802	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428387	0.62844	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84146	-1.81;-1.72	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.33694	0.421;0.421	B;B	0.27608	0.081;0.081	T	0.76924	-0.2779	10	0.42905	T	0.14	-14.6421	20.181	0.98201	0.0:1.0:0.0:0.0	.	914;884	Q4LE28;Q92793	.;CBP_HUMAN	T	884;914;846	ENSP00000262367:A884T;ENSP00000371502:A846T	ENSP00000262367:A884T	A	-	1	0	CREBBP	3760802	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.312000	0.65792	2.840000	0.97914	0.655000	0.94253	GCT		0.637	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		T	3820801	C	T	3820801	3	4	12	1	0	0	0	0	1	0	0	0	3861	797	28	2	4750	2	CREBBP	16	3820801	Missense_Mutation	SNP	C	TCGA-04-1350-01A-01W-0490-10		3820801	86533952	26	707											
NLRC5	84166	hgsc.bcm.edu	37	16	57116341	57116341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr16:57116341delC	ENST00000262510.6	+	49	5727	c.5502delC	c.(5500-5502)aacfs	p.N1834fs	NLRC5_ENST00000308149.7_Frame_Shift_Del_p.N1805fs|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Frame_Shift_Del_p.N1805fs	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1834					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.I1836fs*9(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCTGGAATAACCCCATTCCCT	0.562																																																1	Deletion - Frameshift(1)	ovary(1)	16											107	93	97					16																	57116341		2198	4300	6498	55673842	SO:0001589	frameshift_variant	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5502delC	16.37:g.57116341delC	ENSP00000262510:p.Asn1834fs		55673842	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Frame_Shift_Del	DEL	ENST00000262510.6	37	CCDS10773.1																																																																																				0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		-	57116341	C	-	57116341	7	5	12	1	0	1	0	1	0	0	0	0	10470	506	18	0	5688	0	NLRC5	16	57116341	Frame_Shift_Del	DEL	C	TCGA-04-1350-01A-01W-0490-10	53295540	57116341	33238412	27	708											
HYDIN	54768	hgsc.bcm.edu	37	16	70861276	70861276	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr16:70861276G>A	ENST00000393567.2	-	83	14465	c.14315C>T	c.(14314-14316)cCg>cTg	p.P4772L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4772					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.P4723L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCTTAGGTCCGGCTTCTCTGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	16											1	1	1					16																	70861276		6	9	15	69418777	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14315C>T	16.37:g.70861276G>A	ENSP00000377197:p.Pro4772Leu		69418777	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034437	0.19590	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00824	5.65	5.07	1.66	0.24008	.	0.248618	0.19846	U	0.104752	T	0.00468	0.0015	N	0.04669	-0.19	0.22171	N	0.999316	B	0.18610	0.029	B	0.17722	0.019	T	0.48115	-0.9063	10	0.11485	T	0.65	.	4.1906	0.10419	0.2036:0.0:0.4521:0.3444	.	4771	F8WD23	.	L	4772;4771	ENSP00000377197:P4772L	ENSP00000313052:P4771L	P	-	2	0	HYDIN	69418777	0.001000	0.12720	0.987000	0.45799	0.983000	0.72400	1.134000	0.31442	1.090000	0.41315	0.511000	0.50034	CCG		0.473	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	70861276	G	A	70861276	3	1	12	1	0	0	0	0	1	0	0	0	7467	1116	39	1	1066	1	HYDIN	16	70861276	Missense_Mutation	SNP	G	TCGA-04-1350-01A-01W-0490-10	13744935	70861276	19493477	28	709											
FANCA	2175	hgsc.bcm.edu	37	16	89816305	89816306	+	Frame_Shift_Ins	INS	-	-	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr16:89816305_89816306insA	ENST00000389301.3	-	32	3101_3102	c.3071_3072insT	c.(3070-3072)atgfs	p.M1024fs	FANCA_ENST00000568369.1_Frame_Shift_Ins_p.M1024fs	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1024					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.M1024fs*4(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGTCAGCTACCATCTCCTGAAA	0.609			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	1	Insertion - Frameshift(1)	ovary(1)	16																																								88343807	SO:0001589	frameshift_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3072dupT	16.37:g.89816306_89816306dupA	ENSP00000373952:p.Met1024fs		88343806	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Frame_Shift_Ins	INS	ENST00000389301.3	37	CCDS32515.1																																																																																				0.609	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			A	89816306	-	A	89816305	7	5	12	1	0	1	1	0	0	0	0	0	5662	594	21	0	1343	0	FANCA	16	89816305	Frame_Shift_Ins	INS	-	TCGA-04-1350-01A-01W-0490-10	18955029	89816305	538448	29	710											
TP53	7157	hgsc.bcm.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	17											47	47	47					17																	7578394		2203	4300	6503	7519119	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		7519119	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	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578394	T	C	7578394	3	2	12	1	0	0	0	0	1	0	0	0	16381	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-04-1350-01A-01W-0490-10		7578394	73616816	30	711											
MYH7B	57644	hgsc.bcm.edu	37	20	33568865	33568865	+	Splice_Site	SNP	T	T	G			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr20:33568865T>G	ENST00000262873.7	+	7	745		c.e7+2		MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta							membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTGATCACGTGAGTGTGGGG	0.572																																																1	Unknown(1)	ovary(1)	20											88	90	89					20																	33568865		1997	4191	6188	33032526	SO:0001630	splice_region_variant	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.653+2T>G	20.37:g.33568865T>G			33032526	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Splice_Site	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672507	0.88348	.	.	ENSG00000078814	ENST00000262873	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3542	0.60619	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYH7B	33032526	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.009000	0.63998	1.993000	0.58246	0.523000	0.50628	.		0.572	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	Intron	G	33568865	T	G	33568865	5	3	12	1	0	0	0	0	0	0	1	0	10040	1710	59	5	681	5	MYH7B	20	33568865	Splice_Site	SNP	T	TCGA-04-1350-01A-01W-0490-10		33568865	29456655	31	712											
SULF2	55959	hgsc.bcm.edu	37	20	46365453	46365453	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr20:46365453G>A	ENST00000359930.4	-	3	1260	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	SULF2_ENST00000484875.1_Missense_Mutation_p.R137W|SULF2_ENST00000467815.1_Missense_Mutation_p.R137W|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Missense_Mutation_p.R137W	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	137					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.R137W(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCACCTGTCCGGTAGCCAGTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											99	74	82					20																	46365453		2203	4300	6503	45798860	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.409C>T	20.37:g.46365453G>A	ENSP00000353007:p.Arg137Trp		45798860	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772157	0.69992	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1	5.24	3.15	0.36227	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	M	0.93720	3.45	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	D	0.99204	1.0874	10	0.87932	D	0	-17.1006	12.0361	0.53425	0.0:0.0:0.4547:0.5453	.	137;137;137	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	W	137	ENSP00000353007:R137W;ENSP00000418290:R137W;ENSP00000354662:R137W;ENSP00000418442:R137W;ENSP00000410026:R137W	ENSP00000353007:R137W	R	-	1	2	SULF2	45798860	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.046000	0.41260	1.193000	0.43086	-0.310000	0.09108	CGG		0.622	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46365453	G	A	46365453	3	1	12	1	0	0	0	0	1	0	0	0	15373	1115	39	1	2279	1	SULF2	20	46365453	Missense_Mutation	SNP	G	TCGA-04-1350-01A-01W-0490-10	12796588	46365453	16660067	32	713											
ZFP64	55734	hgsc.bcm.edu	37	20	50769312	50769312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr20:50769312delC	ENST00000216923.4	-	6	1768	c.1419delG	c.(1417-1419)acgfs	p.T473fs	ZFP64_ENST00000346617.4_Frame_Shift_Del_p.T419fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Del_p.T471fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T473T(4)|p.L475fs*45(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGTGAGGGGCGTGGCGGGCT	0.602																																																6	Substitution - coding silent(4)|Deletion - Frameshift(2)	large_intestine(4)|ovary(2)	20											53	46	48					20																	50769312		2201	4297	6498	50202719	SO:0001589	frameshift_variant	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1419delG	20.37:g.50769312delC	ENSP00000216923:p.Thr473fs		50202719	Q9NTS7|Q9NVH4	Frame_Shift_Del	DEL	ENST00000216923.4	37	CCDS13440.1																																																																																				0.602	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		-	50769312	C	-	50769312	7	5	12	1	0	1	0	1	0	0	0	0	17652	755	27	0	1821	0	ZFP64	20	50769312	Frame_Shift_Del	DEL	C	TCGA-04-1350-01A-01W-0490-10	4403859	50769312	12256208	33	714											
PTK6	5753	hgsc.bcm.edu	37	20	62162163	62162163	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1350-01A-01W-0490-10	TCGA-04-1350-11A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4e5ce961-8a08-4a0f-a672-3049647ae478	6a7716cb-ecbd-4f56-836b-f2651b2119b4	g.chr20:62162163T>C	ENST00000217185.2	-	6	977	c.950A>G	c.(949-951)aAc>aGc	p.N317S	PTK6_ENST00000542869.1_Missense_Mutation_p.N216S	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	317	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.N317S(1)		endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	GACGAGGATGTTCCTGGCGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											99	86	90					20																	62162163		2203	4300	6503	61632607	SO:0001583	missense	5753			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.950A>G	20.37:g.62162163T>C	ENSP00000217185:p.Asn317Ser		61632607	B2RCR3|B4DW46|Q58F01	Missense_Mutation	SNP	ENST00000217185.2	37	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971453	0.74246	.	.	ENSG00000101213	ENST00000217185;ENST00000542869	D;D	0.97888	-4.59;-4.59	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	U	0.000358	D	0.99108	0.9693	H	0.96489	3.83	0.43076	D	0.994727	D	0.89917	1.0	D	0.87578	0.998	D	0.99541	1.0963	10	0.87932	D	0	.	14.0347	0.64638	0.0:0.0:0.0:1.0	.	317	Q13882	PTK6_HUMAN	S	317;216	ENSP00000217185:N317S;ENSP00000442460:N216S	ENSP00000217185:N317S	N	-	2	0	PTK6	61632607	1.000000	0.71417	0.993000	0.49108	0.427000	0.31564	3.963000	0.56773	1.969000	0.57287	0.482000	0.46254	AAC		0.622	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			C	62162163	T	C	62162163	3	2	12	1	0	0	0	0	1	0	0	0	12767	1725	60	4	417	4	PTK6	20	62162163	Missense_Mutation	SNP	T	TCGA-04-1350-01A-01W-0490-10	11392851	62162163	863357	34	715											
LPPR4	9890	genome.wustl.edu	37	1	99772185	99772185	+	Silent	SNP	G	G	T	rs201385642		TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr1:99772185G>T	ENST00000370185.3	+	7	2408	c.1911G>T	c.(1909-1911)ccG>ccT	p.P637P	LPPR4_ENST00000457765.1_Silent_p.P579P|LPPR4_ENST00000370184.1_Silent_p.P479P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		637					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TACAGATCCCGTCCACTGAAG	0.547																																																0			1											81	78	79					1																	99772185		2203	4300	6503	99544773	SO:0001819	synonymous_variant	9890																														ENST00000370185.3:c.1911G>T	1.37:g.99772185G>T			99544773	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	CCDS757.1																																																																																				0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99772185	G	T	99772185	2	4	13	1	0	0	0	0	0	0	0	1	8927	1132	40	3		3	LPPR4	1	99772185	Silent	SNP	G	TCGA-04-1353-01A-01D-1526-09		99772185	149478436	1	716											
IGFN1	91156	genome.wustl.edu	37	1	201184799	201184799	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr1:201184799G>A	ENST00000335211.4	+	15	9258	c.9128G>A	c.(9127-9129)gGg>gAg	p.G3043E	IGFN1_ENST00000295591.8_Missense_Mutation_p.G203E|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	586						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGAAGGACGGGGCTGAGGTG	0.647																																																0			1											51	45	47					1																	201184799		2203	4300	6503	199451422	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9128G>A	1.37:g.201184799G>A	ENSP00000334714:p.Gly3043Glu		199451422	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318759	0.60524	.	.	ENSG00000163395	ENST00000335211;ENST00000295591	T;T	0.54479	0.57;0.57	4.83	4.83	0.62350	.	0.238628	0.35407	N	0.003239	T	0.62282	0.2415	L	0.52905	1.665	0.21256	N	0.999746	P	0.49185	0.92	P	0.62560	0.904	T	0.54227	-0.8325	9	.	.	.	.	9.5119	0.39082	0.1482:0.0:0.8518:0.0	.	3043	F8WAI1	.	E	3043;203	ENSP00000334714:G3043E;ENSP00000295591:G203E	.	G	+	2	0	IGFN1	199451422	0.941000	0.31946	0.565000	0.28409	0.161000	0.22273	2.012000	0.40932	2.234000	0.73211	0.561000	0.74099	GGG		0.647	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		A	201184799	G	A	201184799	3	1	13	1	0	0	0	0	1	0	0	0	7590	1232	43	2	9182	2	IGFN1	1	201184799	Missense_Mutation	SNP	G	TCGA-04-1353-01A-01D-1526-09	101412614	201184799	48065822	2	717											
DPYSL5	56896	genome.wustl.edu	37	2	27121400	27121400	+	Silent	SNP	C	C	G			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr2:27121400C>G	ENST00000288699.6	+	2	191	c.33C>G	c.(31-33)ctC>ctG	p.L11L	DPYSL5_ENST00000401478.1_Silent_p.L11L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	11					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGATCCTCATCAAGGGAG	0.547																																																0			2											212	189	197					2																	27121400		2203	4300	6503	26974904	SO:0001819	synonymous_variant	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.33C>G	2.37:g.27121400C>G			26974904	Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	CCDS1730.1																																																																																				0.547	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		G	27121400	C	G	27121400	2	3	13	1	0	0	0	0	0	0	0	1	4750	813	29	3		3	DPYSL5	2	27121400	Silent	SNP	C	TCGA-04-1353-01A-01D-1526-09		27121400	216077973	3	718											
NOP58	51602	genome.wustl.edu	37	2	203168125	203168125	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr2:203168125A>T	ENST00000264279.5	+	15	1782	c.1556A>T	c.(1555-1557)aAg>aTg	p.K519M		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	519	Lys-rich.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						Gagaaaaagaagaaaaagaaa	0.363																																																0			2											47	54	52					2																	203168125		2195	4296	6491	202876370	SO:0001583	missense	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1556A>T	2.37:g.203168125A>T	ENSP00000264279:p.Lys519Met		202876370	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.651699	0.67472	.	.	ENSG00000055044	ENST00000264279	T	0.64618	-0.11	5.39	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.44159	0.1280	N	0.08118	0	0.46542	D	0.999096	D	0.55385	0.971	P	0.46543	0.52	T	0.49670	-0.8915	10	0.87932	D	0	-7.1565	7.7878	0.29101	0.9079:0.0:0.0921:0.0	.	519	Q9Y2X3	NOP58_HUMAN	M	519	ENSP00000264279:K519M	ENSP00000264279:K519M	K	+	2	0	NOP58	202876370	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.838000	0.55828	1.072000	0.40860	0.528000	0.53228	AAG		0.363	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		T	203168125	A	T	203168125	3	4	13	1	0	0	0	0	1	0	0	0	10540	72	3	5	1614	5	NOP58	2	203168125	Missense_Mutation	SNP	A	TCGA-04-1353-01A-01D-1526-09	176046725	203168125	40031248	4	719											
PLXNA1	5361	genome.wustl.edu	37	3	126748781	126748781	+	Silent	SNP	C	C	T	rs527394103		TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr3:126748781C>T	ENST00000393409.2	+	27	4935	c.4935C>T	c.(4933-4935)ccC>ccT	p.P1645P	PLXNA1_ENST00000251772.4_Silent_p.P1622P	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1645					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGATCACGCCCGACCTGGAGA	0.677													C|||	1	0.000199681	0	0	5008	,	,		18013	0		0	False		,,,				2504	0.001															0			3											68	66	67					3																	126748781		2203	4299	6502	128231471	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4935C>T	3.37:g.126748781C>T			128231471		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																				0.677	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126748781	C	T	126748781	2	4	13	1	0	0	0	0	0	0	0	1	12119	639	23	1		1	PLXNA1	3	126748781	Silent	SNP	C	TCGA-04-1353-01A-01D-1526-09		126748781	71273649	5	720											
RGS12	6002	genome.wustl.edu	37	4	3424263	3424263	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr4:3424263C>T	ENST00000344733.5	+	11	3903	c.2999C>T	c.(2998-3000)gCg>gTg	p.A1000V	RGS12_ENST00000538395.1_Missense_Mutation_p.A342V|RGS12_ENST00000338806.4_Missense_Mutation_p.A352V|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.A398V|RGS12_ENST00000382788.3_Missense_Mutation_p.A1000V|RGS12_ENST00000336727.3_Missense_Mutation_p.A1000V	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1000	RBD 1. {ECO:0000255|PROSITE- ProRule:PRU00262}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAACGGGGCGGCCGCGGAC	0.677																																																0			4											44	47	46					4																	3424263		2201	4300	6501	3394061	SO:0001583	missense	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2999C>T	4.37:g.3424263C>T	ENSP00000339381:p.Ala1000Val		3394061	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977245	0.92982	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.37915	1.45;1.45;1.45;1.2;1.17;1.22	4.7	4.7	0.59300	Raf-like Ras-binding (3);	0.058529	0.64402	D	0.000002	T	0.57814	0.2079	M	0.63843	1.955	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.976;1.0;1.0;0.999	T	0.59595	-0.7425	10	0.49607	T	0.09	-12.4825	16.6528	0.85221	0.0:1.0:0.0:0.0	.	342;199;199;342;352;398;1000;1000	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	V	1000;1000;1000;398;352;342	ENSP00000339381:A1000V;ENSP00000338509:A1000V;ENSP00000372238:A1000V;ENSP00000304459:A398V;ENSP00000342133:A352V;ENSP00000438888:A342V	ENSP00000304459:A398V	A	+	2	0	RGS12	3394061	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	5.806000	0.69150	2.165000	0.68154	0.655000	0.94253	GCG		0.677	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		T	3424263	C	T	3424263	3	4	13	1	0	0	0	0	1	0	0	0	13298	768	27	1	3095	1	RGS12	4	3424263	Missense_Mutation	SNP	C	TCGA-04-1353-01A-01D-1526-09		3424263	187730013	6	721											
FAT2	2196	genome.wustl.edu	37	5	150934013	150934013	+	Silent	SNP	G	G	A			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr5:150934013G>A	ENST00000261800.5	-	4	3867	c.3855C>T	c.(3853-3855)gaC>gaT	p.D1285D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1285	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCATCGCTGTCCTCGATAC	0.552																																																0			5											153	130	138					5																	150934013		2203	4300	6503	150914206	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3855C>T	5.37:g.150934013G>A			150914206	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150934013	G	A	150934013	2	1	13	1	0	0	0	0	0	0	0	1	5690	1368	48	2		2	FAT2	5	150934013	Silent	SNP	G	TCGA-04-1353-01A-01D-1526-09		150934013	29981247	7	722											
SH3PXD2B	285590	genome.wustl.edu	37	5	171809099	171809099	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr5:171809099C>A	ENST00000311601.5	-	5	512	c.342G>T	c.(340-342)caG>caT	p.Q114H	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.Q114H	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	114	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCATCACACTGAGAGATGT	0.572																																																0			5											31	32	32					5																	171809099		2203	4300	6503	171741704	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.342G>T	5.37:g.171809099C>A	ENSP00000309714:p.Gln114His		171741704	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846896	0.71603	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.69306	-0.39;-0.39	5.79	4.03	0.46877	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	L	0.49126	1.545	0.58432	D	0.999999	D	0.76494	0.999	D	0.77004	0.989	T	0.74968	-0.3483	10	0.62326	D	0.03	-31.029	10.6653	0.45726	0.0:0.8445:0.0:0.1555	.	114	A1X283	SPD2B_HUMAN	H	114	ENSP00000430890:Q114H;ENSP00000309714:Q114H	ENSP00000309714:Q114H	Q	-	3	2	SH3PXD2B	171741704	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.820000	0.48057	0.802000	0.34089	-0.145000	0.13849	CAG		0.572	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		A	171809099	C	A	171809099	3	1	13	1	0	0	0	0	1	0	0	0	14260	564	20	3	2429	3	SH3PXD2B	5	171809099	Missense_Mutation	SNP	C	TCGA-04-1353-01A-01D-1526-09	20875086	171809099	9106161	8	723											
NFKBIE	4794	genome.wustl.edu	37	6	44227867	44227867	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr6:44227867C>A	ENST00000275015.5	-	5	1349	c.1350G>T	c.(1348-1350)atG>atT	p.M450I	SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000538577.1_5'Flank|SLC35B2_ENST00000537814.1_5'Flank|SLC35B2_ENST00000393810.1_5'Flank|SLC35B2_ENST00000495706.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	450					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGAGATGCCCATGAGACCCC	0.627																																																0			6											49	50	50					6																	44227867		2203	4300	6503	44335845	SO:0001583	missense	4794			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"Ankyrin repeat domain containing"	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1350G>T	6.37:g.44227867C>A	ENSP00000275015:p.Met450Ile		44335845	Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	3.205	-0.162799	0.06502	.	.	ENSG00000146232	ENST00000275015;ENST00000443607	T	0.62788	0.0	4.67	-7.96	0.01144	Ankyrin repeat-containing domain (3);	0.638810	0.15041	N	0.283892	T	0.09291	0.0229	N	0.01800	-0.715	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.28681	-1.0036	10	0.37606	T	0.19	-30.6319	5.8364	0.18609	0.2163:0.405:0.3041:0.0746	.	450	O00221	IKBE_HUMAN	I	450;51	ENSP00000275015:M450I	ENSP00000275015:M450I	M	-	3	0	NFKBIE	44335845	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.140000	0.10342	-1.423000	0.02002	-1.045000	0.02358	ATG		0.627	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			A	44227867	C	A	44227867	3	1	13	1	0	0	0	0	1	0	0	0	10380	594	21	3	160	3	NFKBIE	6	44227867	Missense_Mutation	SNP	C	TCGA-04-1353-01A-01D-1526-09		44227867	126887200	9	724											
TINAG	27283	genome.wustl.edu	37	6	54214691	54214691	+	Silent	SNP	C	C	A			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr6:54214691C>A	ENST00000259782.4	+	7	1173	c.1077C>A	c.(1075-1077)tcC>tcA	p.S359S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	359					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAGTCTCTTCCAACGTAAGTA	0.363																																																0			6											93	92	92					6																	54214691		2203	4300	6503	54322650	SO:0001819	synonymous_variant	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1077C>A	6.37:g.54214691C>A			54322650	Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	CCDS4955.1																																																																																				0.363	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		A	54214691	C	A	54214691	2	1	13	1	0	0	0	0	0	0	0	1	15921	581	21	3		3	TINAG	6	54214691	Silent	SNP	C	TCGA-04-1353-01A-01D-1526-09	9986824	54214691	116900376	10	725											
ARHGAP39	80728	genome.wustl.edu	37	8	145763178	145763178	+	Intron	SNP	C	C	G			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr8:145763178C>G	ENST00000276826.5	-	6	2723				ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E847D|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39						axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTTCCAGGAGCTCTTTTATGT	0.542																																																0			8											160	163	162					8																	145763178		2203	4300	6503	145733986	SO:0001627	intron_variant	80728				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2522-3592G>C	8.37:g.145763178C>G			145733986	B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37		.	.	.	.	.	.	.	.	.	.	C	14.24	2.476024	0.44044	.	.	ENSG00000147799	ENST00000377307	D	0.91521	-2.86	4.95	4.95	0.65309	.	0.632313	0.15696	N	0.249183	D	0.83755	0.5323	L	0.33485	1.01	0.80722	D	1	B	0.22211	0.066	B	0.24006	0.05	T	0.76570	-0.2911	10	0.16420	T	0.52	-16.1984	9.3354	0.38047	0.0:0.902:0.0:0.098	.	847	Q9C0H5-2	.	D	847	ENSP00000366522:E847D	ENSP00000366522:E847D	E	-	3	2	ARHGAP39	145733986	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.761000	0.26489	2.297000	0.77311	0.561000	0.74099	GAG		0.542	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			G	145763178	C	G	145763178	1	3	13	0	1	0	0	0	0	0	0	0	884	796	28	3		3	ARHGAP39	8	145763178	Intron	SNP	C	TCGA-04-1353-01A-01D-1526-09		145763178	600844	11	726											
NR5A1	2516	genome.wustl.edu	37	9	127262732	127262732	+	Silent	SNP	C	C	T			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr9:127262732C>T	ENST00000373588.4	-	4	703	c.507G>A	c.(505-507)ctG>ctA	p.L169L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	169					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						CGGCCATGGGCAGTGCTGGGG	0.692																																																0			9											7	9	8					9																	127262732		2150	4200	6350	126302553	SO:0001819	synonymous_variant	2516			D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.507G>A	9.37:g.127262732C>T			126302553	O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	37	CCDS6856.1																																																																																				0.692	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		T	127262732	C	T	127262732	2	4	13	1	0	0	0	0	0	0	0	1	10635	697	25	2		2	NR5A1	9	127262732	Silent	SNP	C	TCGA-04-1353-01A-01D-1526-09		127262732	13950699	12	727											
HKDC1	80201	genome.wustl.edu	37	10	71008266	71008266	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr10:71008266A>C	ENST00000354624.5	+	10	1485	c.1352A>C	c.(1351-1353)aAg>aCg	p.K451T	HKDC1_ENST00000395086.2_Missense_Mutation_p.K451T|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	451	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGCAGCACCAAGGGGGCCGCC	0.637																																																0			10											41	42	41					10																	71008266		2202	4300	6502	70678272	SO:0001583	missense	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1352A>C	10.37:g.71008266A>C	ENSP00000346643:p.Lys451Thr		70678272	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084605	0.76642	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	T;T	0.11385	2.78;2.78	4.97	3.8	0.43715	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	M	0.80422	2.495	0.50313	D	0.999863	P	0.52463	0.953	P	0.59948	0.866	T	0.01121	-1.1445	10	0.66056	D	0.02	-14.3556	6.9707	0.24646	0.7917:0.0:0.0746:0.1336	.	451	Q2TB90	HKDC1_HUMAN	T	451	ENSP00000346643:K451T;ENSP00000378521:K451T	ENSP00000346643:K451T	K	+	2	0	HKDC1	70678272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.294000	0.59043	0.879000	0.35944	0.379000	0.24179	AAG		0.637	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		C	71008266	A	C	71008266	3	2	13	1	0	0	0	0	1	0	0	0	7193	72	3	5	1390	5	HKDC1	10	71008266	Missense_Mutation	SNP	A	TCGA-04-1353-01A-01D-1526-09		71008266	64526481	13	728											
FARP1	10160	genome.wustl.edu	37	13	99083507	99083507	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr13:99083507A>C	ENST00000319562.6	+	18	2381	c.2116A>C	c.(2116-2118)Agc>Cgc	p.S706R	FARP1_ENST00000595437.1_Missense_Mutation_p.S706R|FARP1_ENST00000376586.2_Missense_Mutation_p.S706R	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	706	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCACCCGCCGAGCCACGCCGA	0.657																																																0			13											10	11	11					13																	99083507		2166	4250	6416	97881508	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2116A>C	13.37:g.99083507A>C	ENSP00000322926:p.Ser706Arg		97881508	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613978	0.28712	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.67865	-0.29;-0.29	5.58	4.4	0.53042	Dbl homology (DH) domain (5);	0.337598	0.34932	N	0.003568	T	0.47097	0.1427	N	0.08118	0	0.31481	N	0.667178	B;B	0.27316	0.175;0.084	B;B	0.30029	0.11;0.042	T	0.53739	-0.8396	10	0.49607	T	0.09	.	11.2934	0.49263	0.9285:0.0:0.0715:0.0	.	706;706	Q9Y4F1;C9JME2	FARP1_HUMAN;.	R	706	ENSP00000365771:S706R;ENSP00000322926:S706R	ENSP00000322926:S706R	S	+	1	0	FARP1	97881508	0.105000	0.21958	0.908000	0.35775	0.678000	0.39670	3.383000	0.52471	0.943000	0.37553	0.454000	0.30748	AGC		0.657	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		C	99083507	A	C	99083507	3	2	13	1	0	0	0	0	1	0	0	0	5676	304	11	5	2405	5	FARP1	13	99083507	Missense_Mutation	SNP	A	TCGA-04-1353-01A-01D-1526-09		99083507	16086371	14	729											
HS3ST6	64711	genome.wustl.edu	37	16	1961684	1961684	+	Silent	SNP	C	C	T			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr16:1961684C>T	ENST00000293937.3	-	2	935	c.936G>A	c.(934-936)gtG>gtA	p.V312V	HS3ST6_ENST00000454677.2_Silent_p.V329V|HS3ST6_ENST00000443547.1_Silent_p.V281V			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	312					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGGCCTGGGGCACGCGTGGGT	0.697																																																0			16											19	22	21					16																	1961684		2134	4237	6371	1901685	SO:0001819	synonymous_variant	64711					16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.936G>A	16.37:g.1961684C>T			1901685	Q96RX7	Silent	SNP	ENST00000293937.3	37																																																																																					0.697	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		T	1961684	C	T	1961684	2	4	13	1	0	0	0	0	0	0	0	1	7369	697	25	2		2	HS3ST6	16	1961684	Silent	SNP	C	TCGA-04-1353-01A-01D-1526-09		1961684	88393069	15	730											
CALR	811	genome.wustl.edu	37	19	13049527	13049527	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr19:13049527C>T	ENST00000316448.5	+	1	107	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	12					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GCTCGGCCTCCTCGGCCTGGC	0.711											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											12	13	13					19																	13049527		2190	4273	6463	12910527	SO:0001583	missense	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.34C>T	19.37:g.13049527C>T	ENSP00000320866:p.Leu12Phe	684	12910527	Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729325	0.48833	.	.	ENSG00000179218	ENST00000316448	T	0.53640	0.61	5.82	3.68	0.42216	Concanavalin A-like lectin/glucanase (1);	0.387037	0.27122	N	0.020829	T	0.36799	0.0980	L	0.50993	1.605	0.54753	D	0.999989	P	0.40476	0.718	B	0.36885	0.235	T	0.08027	-1.0742	10	0.21540	T	0.41	-9.4994	9.2289	0.37425	0.0:0.7758:0.146:0.0782	.	12	P27797	CALR_HUMAN	F	12	ENSP00000320866:L12F	ENSP00000320866:L12F	L	+	1	0	CALR	12910527	0.000000	0.05858	0.626000	0.29213	0.828000	0.46876	-0.657000	0.05335	0.793000	0.33875	0.561000	0.74099	CTC		0.711	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		T	13049527	C	T	13049527	3	4	13	1	0	0	0	0	1	0	0	0	2592	681	24	2	36	2	CALR	19	13049527	Missense_Mutation	SNP	C	TCGA-04-1353-01A-01D-1526-09		13049527	46079456	16	731											
NOTCH3	4854	genome.wustl.edu	37	19	15273310	15273310	+	Missense_Mutation	SNP	T	T	C	rs370239685		TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr19:15273310T>C	ENST00000263388.2	-	32	5954	c.5879A>G	c.(5878-5880)aAa>aGa	p.K1960R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1960					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCTCCATTTTTGAGCAGGGC	0.577																																																0			19						T	ARG/LYS	0,4406		0,0,2203	97	77	84		5879	3.4	1	19		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOTCH3	NM_000435.2	26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	1960/2322	15273310	1,13005	2203	4300	6503	15134310	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5879A>G	19.37:g.15273310T>C	ENSP00000263388:p.Lys1960Arg		15134310	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.975750	0.74360	0.0	1.16E-4	ENSG00000074181	ENST00000263388	T	0.65916	-0.18	4.44	3.38	0.38709	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.65873	0.2733	L	0.31578	0.945	0.47547	D	0.999458	D	0.89917	1.0	D	0.91635	0.999	T	0.64774	-0.6328	9	0.52906	T	0.07	.	9.4257	0.38578	0.1596:0.0:0.0:0.8404	.	1960	Q9UM47	NOTC3_HUMAN	R	1960	ENSP00000263388:K1960R	ENSP00000263388:K1960R	K	-	2	0	NOTCH3	15134310	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.701000	0.61810	0.804000	0.34136	0.528000	0.53228	AAA		0.577	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		C	15273310	T	C	15273310	3	2	13	1	0	0	0	0	1	0	0	0	10550	1841	64	4	1094	4	NOTCH3	19	15273310	Missense_Mutation	SNP	T	TCGA-04-1353-01A-01D-1526-09	2223783	15273310	43855673	17	732											
C20orf96	140680	genome.wustl.edu	37	20	259879	259879	+	Silent	SNP	G	G	T			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr20:259879G>T	ENST00000360321.2	-	5	537	c.399C>A	c.(397-399)atC>atA	p.I133I	C20orf96_ENST00000400269.3_Silent_p.I75I|C20orf96_ENST00000382369.5_Silent_p.I98I	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	133										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCATCTCCTGGATGGTCTCGA	0.687																																																0			20											110	78	89					20																	259879		2203	4300	6503	207879	SO:0001819	synonymous_variant	140680			AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.399C>A	20.37:g.259879G>T			207879	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	37	CCDS12994.1																																																																																				0.687	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		T	259879	G	T	259879	2	4	13	1	0	0	0	0	0	0	0	1	2122	1164	41	3		3	C20orf96	20	259879	Silent	SNP	G	TCGA-04-1353-01A-01D-1526-09		259879	62765641	18	733											
CENPB	1059	genome.wustl.edu	37	20	3766420	3766420	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr20:3766420C>G	ENST00000379751.4	-	1	917	c.711G>C	c.(709-711)gaG>gaC	p.E237D	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	237					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GGGGCAGCTTCTCGCTGCCGT	0.726																																																0			20											17	20	19					20																	3766420		2191	4260	6451	3714420	SO:0001583	missense	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.711G>C	20.37:g.3766420C>G	ENSP00000369075:p.Glu237Asp		3714420	Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	10.35	1.325985	0.24080	.	.	ENSG00000125817	ENST00000379751	T	0.52983	0.64	4.04	-0.329	0.12686	.	0.000000	0.35179	U	0.003390	T	0.43255	0.1239	L	0.48218	1.51	0.26399	N	0.976451	P	0.49635	0.926	P	0.51866	0.682	T	0.37798	-0.9690	10	0.66056	D	0.02	-10.8237	3.621	0.08096	0.1685:0.4427:0.0:0.3888	.	237	P07199	CENPB_HUMAN	D	237	ENSP00000369075:E237D	ENSP00000369075:E237D	E	-	3	2	CENPB	3714420	0.995000	0.38212	0.989000	0.46669	0.281000	0.26958	0.273000	0.18662	-0.397000	0.07691	-0.689000	0.03729	GAG		0.726	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		G	3766420	C	G	3766420	3	3	13	1	0	0	0	0	1	0	0	0	3227	912	32	3	1092	3	CENPB	20	3766420	Missense_Mutation	SNP	C	TCGA-04-1353-01A-01D-1526-09	3506541	3766420	59259100	19	734											
BPI	671	genome.wustl.edu	37	20	36936034	36936034	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr20:36936034G>A	ENST00000262865.4	+	2	297	c.208G>A	c.(208-210)Gac>Aac	p.D70N	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	70					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGACTACTCAGACAGCTTTAA	0.527																																																0			20											121	115	117					20																	36936034		2203	4300	6503	36369448	SO:0001583	missense	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.208G>A	20.37:g.36936034G>A	ENSP00000262865:p.Asp70Asn		36369448	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848256	0.32699	.	.	ENSG00000101425	ENST00000262865	T	0.04970	3.52	4.21	3.26	0.37387	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.631864	0.14952	N	0.288857	T	0.04407	0.0121	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.33471	-0.9867	10	0.72032	D	0.01	-0.2552	8.2582	0.31769	0.1066:0.0:0.8934:0.0	.	70	P17213	BPI_HUMAN	N	70	ENSP00000262865:D70N	ENSP00000262865:D70N	D	+	1	0	BPI	36369448	0.854000	0.29725	0.003000	0.11579	0.000000	0.00434	4.609000	0.61148	1.359000	0.45940	-0.150000	0.13652	GAC		0.527	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		A	36936034	G	A	36936034	3	1	13	1	0	0	0	0	1	0	0	0	1490	942	33	2	214	2	BPI	20	36936034	Missense_Mutation	SNP	G	TCGA-04-1353-01A-01D-1526-09	33169614	36936034	26089486	20	735											
JPH2	57158	genome.wustl.edu	37	20	42788633	42788633	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr20:42788633C>T	ENST00000372980.3	-	2	1666	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	265					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTCTCCCAGGCTGGCGGTGGA	0.701																																																0			20											15	16	16					20																	42788633		2195	4281	6476	42222047	SO:0001583	missense	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.794G>A	20.37:g.42788633C>T	ENSP00000362071:p.Ser265Asn		42222047	E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.730783	0.48939	.	.	ENSG00000149596	ENST00000372980	T	0.63417	-0.04	3.03	2.06	0.26882	.	0.111045	0.64402	U	0.000003	T	0.75766	0.3894	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.74213	-0.3738	10	0.38643	T	0.18	.	11.7911	0.52070	0.0:0.8206:0.1794:0.0	.	265	Q9BR39	JPH2_HUMAN	N	265	ENSP00000362071:S265N	ENSP00000362071:S265N	S	-	2	0	JPH2	42222047	1.000000	0.71417	0.630000	0.29268	0.171000	0.22731	5.469000	0.66749	0.466000	0.27193	0.298000	0.19748	AGC		0.701	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			T	42788633	C	T	42788633	3	4	13	1	0	0	0	0	1	0	0	0	7961	797	28	2	1312	2	JPH2	20	42788633	Missense_Mutation	SNP	C	TCGA-04-1353-01A-01D-1526-09	5852599	42788633	20236887	21	736											
EEF1A2	1917	genome.wustl.edu	37	20	62119708	62119708	+	Silent	SNP	G	G	A	rs372257864	byFrequency	TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr20:62119708G>A	ENST00000298049.7	-	7	1405	c.1335C>T	c.(1333-1335)agC>agT	p.S445S	EEF1A2_ENST00000217182.3_Silent_p.S445S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	445					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGGCGCCGCCGCTCTTCTTCT	0.751													g|||	38	0.00758786	0	0	5008	,	,		4388	0		0.002	False		,,,				2504	0.0368															0			20								1,3895		0,1,1947	7	6	7		1335	0.7	1	20		7	21,7681		0,21,3830	no	coding-synonymous	EEF1A2	NM_001958.2		0,22,5777	AA,AG,GG		0.2727,0.0257,0.1897		445/464	62119708	22,11576	1948	3851	5799	61590152	SO:0001819	synonymous_variant	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1335C>T	20.37:g.62119708G>A			61590152	B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	CCDS13522.1																																																																																				0.751	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		A	62119708	G	A	62119708	2	1	13	1	0	0	0	0	0	0	0	1	4924	1078	38	1		1	EEF1A2	20	62119708	Silent	SNP	G	TCGA-04-1353-01A-01D-1526-09	19331075	62119708	905812	22	737											
RTEL1	51750	genome.wustl.edu	37	20	62324593	62324593	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr20:62324593C>G	ENST00000360203.5	+	30	3274	c.2949C>G	c.(2947-2949)agC>agG	p.S983R	RTEL1_ENST00000508582.2_Missense_Mutation_p.S1007R|RTEL1_ENST00000370018.3_Missense_Mutation_p.S983R|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S983R|RTEL1_ENST00000318100.4_Missense_Mutation_p.S983R|RTEL1_ENST00000370003.1_Missense_Mutation_p.S228R					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGAGCACAGCATTCCCCGAA	0.627																																																0			20											86	90	88					20																	62324593		2199	4289	6488	61795037	SO:0001583	missense	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2949C>G	20.37:g.62324593C>G	ENSP00000353332:p.Ser983Arg		61795037		Missense_Mutation	SNP	ENST00000360203.5	37		.	.	.	.	.	.	.	.	.	.	C	14.84	2.655067	0.47467	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	4.82	2.88	0.33553	.	0.604873	0.18191	N	0.148821	T	0.17619	0.0423	L	0.55481	1.735	0.25033	N	0.991252	P;B;B;D	0.59357	0.946;0.222;0.046;0.985	P;B;B;P	0.61477	0.754;0.031;0.035;0.889	T	0.03910	-1.0993	10	0.66056	D	0.02	-7.9762	6.943	0.24502	0.0:0.6376:0.0:0.3624	.	1007;228;983;983	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	R	983;983;1007;983;228	ENSP00000359035:S983R;ENSP00000322287:S983R;ENSP00000424307:S1007R;ENSP00000353332:S983R;ENSP00000359020:S228R	ENSP00000353332:S983R	S	+	3	2	AL353715.1	61795037	0.005000	0.15991	0.002000	0.10522	0.018000	0.09664	0.829000	0.27449	0.457000	0.26962	0.289000	0.19496	AGC		0.627	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		G	62324593	C	G	62324593	3	3	13	1	0	0	0	0	1	0	0	0	13723	709	25	3	3063	3	RTEL1	20	62324593	Missense_Mutation	SNP	C	TCGA-04-1353-01A-01D-1526-09	204885	62324593	700927	23	738											
C21orf29	54084	genome.wustl.edu	37	21	45987686	45987686	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr21:45987686G>T	ENST00000323084.4	-	2	351	c.286C>A	c.(286-288)Ccc>Acc	p.P96T	TSPEAR_ENST00000397916.1_Missense_Mutation_p.P28T	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	96	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGAAGATTGGGAACTCTCAAA	0.507																																																0			21											56	54	54					21																	45987686		2203	4300	6503	44812114	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.286C>A	21.37:g.45987686G>T	ENSP00000321987:p.Pro96Thr		44812114		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.603227	0.00849	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.42131	0.98;0.98	4.68	3.73	0.42828	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	1.038680	0.07563	N	0.917383	T	0.44932	0.1317	M	0.66939	2.045	0.19300	N	0.999976	B	0.19935	0.04	B	0.13407	0.009	T	0.33497	-0.9866	10	0.44086	T	0.13	.	12.4554	0.55702	0.0:0.0:0.8316:0.1684	.	96	Q8WU66	TSEAR_HUMAN	T	96;96;28;96	ENSP00000321987:P96T;ENSP00000381012:P28T	ENSP00000321987:P96T	P	-	1	0	TSPEAR	44812114	0.296000	0.24398	0.081000	0.20488	0.003000	0.03518	1.195000	0.32186	2.140000	0.66376	0.591000	0.81541	CCC		0.507	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		T	45987686	G	T	45987686	3	4	13	1	0	0	0	0	1	0	0	0	2124	1174	41	3	1767	3	C21orf29	21	45987686	Missense_Mutation	SNP	G	TCGA-04-1353-01A-01D-1526-09		45987686	2142209	24	739											
HIRA	7290	genome.wustl.edu	37	22	19396100	19396100	+	Silent	SNP	C	C	T			TCGA-04-1353-01A-01D-1526-09	TCGA-04-1353-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65c12882-87e1-445e-9797-9a4998cab3bd	36baba19-f6d1-4939-a5ec-9d3c456c8d9f	g.chr22:19396100C>T	ENST00000263208.5	-	3	373	c.117G>A	c.(115-117)aaG>aaA	p.K39K	HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000546308.1_5'UTR|HIRA_ENST00000541063.1_5'UTR|HIRA_ENST00000340170.4_Silent_p.K39K	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	39					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGATCACAACCTTCCCAGAAT	0.393																																																0			22											101	93	96					22																	19396100		2203	4300	6503	17776100	SO:0001819	synonymous_variant	7290			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.117G>A	22.37:g.19396100C>T			17776100	Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	CCDS13759.1																																																																																				0.393	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		T	19396100	C	T	19396100	2	4	13	1	0	0	0	0	0	0	0	1	7120	680	24	2		2	HIRA	22	19396100	Silent	SNP	C	TCGA-04-1353-01A-01D-1526-09		19396100	31908466	25	740											
ECE1	1889	broad.mit.edu	37	1	21571547	21571547	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr1:21571547A>C	ENST00000374893.6	-	10	1287	c.1213T>G	c.(1213-1215)Ttc>Gtc	p.F405V	ECE1_ENST00000415912.2_Missense_Mutation_p.F389V|ECE1_ENST00000436918.2_Missense_Mutation_p.F405V|ECE1_ENST00000264205.6_Missense_Mutation_p.F402V|ECE1_ENST00000357071.4_Missense_Mutation_p.F393V|ECE1_ENST00000528294.1_5'UTR	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	405					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.F405V(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGGTCAAGGAAGGAGCTTGTT	0.557											OREG0013200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											133	110	118					1																	21571547		2203	4300	6503	21444134	SO:0001583	missense	1889			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1213T>G	1.37:g.21571547A>C	ENSP00000364028:p.Phe405Val	749	21444134	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	A	9.023	0.985338	0.18889	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.55	5.55	0.83447	Peptidase M13 (1);	0.148771	0.64402	D	0.000011	T	0.67692	0.2920	N	0.11818	0.18	0.46927	D	0.99925	B;B;B;B;B	0.18741	0.002;0.021;0.005;0.03;0.017	B;B;B;B;B	0.25614	0.014;0.029;0.062;0.017;0.017	T	0.62459	-0.6850	10	0.17369	T	0.5	-32.4324	9.8024	0.40773	0.9189:0.0:0.0811:0.0	.	405;389;405;393;402	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	V	389;393;405;405;402	ENSP00000405088:F389V;ENSP00000349581:F393V;ENSP00000364028:F405V;ENSP00000388439:F405V;ENSP00000264205:F402V	ENSP00000264205:F402V	F	-	1	0	ECE1	21444134	1.000000	0.71417	0.995000	0.50966	0.723000	0.41478	1.769000	0.38522	2.122000	0.65172	0.459000	0.35465	TTC		0.557	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		C	21571547	A	C	21571547	3	2	14	1	0	0	0	0	1	0	0	0	4889	72	3	5	1139	5	ECE1	1	21571547	Missense_Mutation	SNP	A	TCGA-04-1356-01A-01W-0492-08		21571547	227679074	1	741											
PTPRU	10076	broad.mit.edu	37	1	29631874	29631874	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr1:29631874C>A	ENST00000345512.3	+	19	2913	c.2784C>A	c.(2782-2784)caC>caA	p.H928Q	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.H918Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.H918Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.H918Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.H918Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.H918Q	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	928	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H928Q(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATGATCGGCACCGAGTGAAAC	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											125	108	113					1																	29631874		2203	4300	6503	29504461	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2784C>A	1.37:g.29631874C>A	ENSP00000334941:p.His928Gln		29504461	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670396	0.47677	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.06	4.06	0.47325	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	L	0.28115	0.83	0.49051	D	0.999746	B;B;B;B;B	0.33807	0.372;0.372;0.372;0.426;0.426	B;B;B;B;B	0.37304	0.159;0.159;0.159;0.246;0.246	T	0.04991	-1.0913	9	.	.	.	.	16.4948	0.84237	0.0:1.0:0.0:0.0	.	918;918;918;918;928	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Q	928;918;918;918;918;918	ENSP00000334941:H928Q;ENSP00000362884:H918Q;ENSP00000349333:H918Q;ENSP00000314987:H918Q;ENSP00000392332:H918Q;ENSP00000432906:H918Q	.	H	+	3	2	PTPRU	29504461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.477000	0.45180	2.556000	0.86216	0.563000	0.77884	CAC		0.567	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			A	29631874	C	A	29631874	3	1	14	1	0	0	0	0	1	0	0	0	12816	506	18	3	2858	3	PTPRU	1	29631874	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08	8060327	29631874	219618747	2	742											
LPPR4	9890	broad.mit.edu	37	1	99771604	99771604	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr1:99771604T>A	ENST00000370185.3	+	7	1827	c.1330T>A	c.(1330-1332)Tca>Aca	p.S444T	LPPR4_ENST00000457765.1_Missense_Mutation_p.S386T|LPPR4_ENST00000370184.1_Missense_Mutation_p.S286T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		444					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.S444T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCCGCTCGATCAAAGCAGCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											70	69	69					1																	99771604		2203	4300	6503	99544192	SO:0001583	missense	9890																														ENST00000370185.3:c.1330T>A	1.37:g.99771604T>A	ENSP00000359204:p.Ser444Thr		99544192	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152933	0.57259	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.37584	1.76;1.47;1.19	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	L	0.54323	1.7	0.58432	D	0.999999	D;P	0.61697	0.99;0.897	D;B	0.72982	0.979;0.443	T	0.36648	-0.9739	9	.	.	.	-15.8703	15.6012	0.76626	0.0:0.0:0.0:1.0	.	386;444	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	T	444;386;444;286	ENSP00000359204:S444T;ENSP00000394913:S386T;ENSP00000359203:S286T	.	S	+	1	0	RP4-788L13.1	99544192	1.000000	0.71417	0.738000	0.30950	0.619000	0.37552	7.613000	0.82986	2.082000	0.62665	0.528000	0.53228	TCA		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			A	99771604	T	A	99771604	3	1	14	1	0	0	0	0	1	0	0	0	8927	1435	50	5	1356	5	LPPR4	1	99771604	Missense_Mutation	SNP	T	TCGA-04-1356-01A-01W-0492-08	70139730	99771604	149479017	3	743											
SHE	126669	broad.mit.edu	37	1	154461579	154461579	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr1:154461579C>A	ENST00000304760.2	-	3	1058	c.972G>T	c.(970-972)gaG>gaT	p.E324D		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	324								p.E324D(1)		breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGCTCGTACTCTGCCGCGG	0.687																																																1	Substitution - Missense(1)	ovary(1)	1											41	44	43					1																	154461579		2203	4299	6502	152728203	SO:0001583	missense	126669			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.972G>T	1.37:g.154461579C>A	ENSP00000307369:p.Glu324Asp		152728203	Q8TEQ5	Missense_Mutation	SNP	ENST00000304760.2	37	CCDS30877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908549|2.908549	0.52439|0.52439	.|.	.|.	ENSG00000169291|ENSG00000169291	ENST00000304760|ENST00000555188	T|.	0.35789|.	1.29|.	5.61|5.61	4.68|4.68	0.58851|0.58851	.|.	0.174924|.	0.49916|.	D|.	0.000137|.	T|T	0.56804|0.56804	0.2010|0.2010	L|L	0.58101|0.58101	1.795|1.795	0.51012|0.51012	D|D	0.999905|0.999905	B|.	0.25351|.	0.124|.	B|.	0.18263|.	0.021|.	T|T	0.51826|0.51826	-0.8656|-0.8656	10|5	0.44086|.	T|.	0.13|.	-10.1471|-10.1471	13.9446|13.9446	0.64077|0.64077	0.0:0.925:0.0:0.075|0.0:0.925:0.0:0.075	.|.	324|.	Q5VZ18|.	SHE_HUMAN|.	D|L	324|22	ENSP00000307369:E324D|.	ENSP00000307369:E324D|.	E|V	-|-	3|1	2|0	SHE|SHE	152728203|152728203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.206000|0.206000	0.24218|0.24218	2.757000|2.757000	0.47557|0.47557	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|GTA		0.687	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846		A	154461579	C	A	154461579	3	1	14	1	0	0	0	0	1	0	0	0	14279	564	20	3	531	3	SHE	1	154461579	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08	54689975	154461579	94789042	4	744											
SPTA1	6708	broad.mit.edu	37	1	158651358	158651358	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr1:158651358C>G	ENST00000368147.4	-	4	670	c.490G>C	c.(490-492)Gta>Cta	p.V164L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	164					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.V164L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTCCTGTACATACTGCTGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											228	230	230					1																	158651358		2035	4195	6230	156917982	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.490G>C	1.37:g.158651358C>G	ENSP00000357129:p.Val164Leu		156917982	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.293563	0.00245	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.47869	0.83;0.83	5.15	-1.04	0.10068	.	.	.	.	.	T	0.02727	0.0082	N	0.00656	-1.285	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.30880	-0.9963	9	0.08381	T	0.77	.	0.3116	0.00288	0.3859:0.1378:0.2203:0.256	.	164	P02549	SPTA1_HUMAN	L	164	ENSP00000357130:V164L;ENSP00000357129:V164L	ENSP00000357129:V164L	V	-	1	0	SPTA1	156917982	1.000000	0.71417	0.005000	0.12908	0.017000	0.09413	2.307000	0.43682	-0.358000	0.08162	-2.746000	0.00125	GTA		0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158651358	C	G	158651358	3	3	14	1	0	0	0	0	1	0	0	0	15118	478	17	3	6965	3	SPTA1	1	158651358	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08	4189779	158651358	90599263	5	745											
AIM2	9447	broad.mit.edu	37	1	159036107	159036107	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr1:159036107G>T	ENST00000368130.4	-	4	697	c.409C>A	c.(409-411)Cag>Aag	p.Q137K	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	137					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.Q137K(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GCCACCATCTGTTTCTGTTCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											48	53	51					1																	159036107		2203	4298	6501	157302731	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.409C>A	1.37:g.159036107G>T	ENSP00000357112:p.Gln137Lys		157302731	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	G	2.703	-0.270455	0.05716	.	.	ENSG00000163568	ENST00000368130	T	0.06933	3.24	3.05	1.09	0.20402	.	.	.	.	.	T	0.00998	0.0033	L	0.27053	0.805	0.09310	N	1	B	0.29862	0.259	B	0.24394	0.053	T	0.46992	-0.9151	9	0.02654	T	1	-1.9445	3.731	0.08493	0.136:0.0:0.6239:0.2401	.	137	O14862	AIM2_HUMAN	K	137	ENSP00000357112:Q137K	ENSP00000357112:Q137K	Q	-	1	0	AIM2	157302731	0.001000	0.12720	0.005000	0.12908	0.240000	0.25518	-0.058000	0.11750	0.137000	0.18759	0.491000	0.48974	CAG		0.448	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		T	159036107	G	T	159036107	3	4	14	1	0	0	0	0	1	0	0	0	432	1386	48	3	634	3	AIM2	1	159036107	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08	384749	159036107	90214514	6	746											
HMCN1	83872	broad.mit.edu	37	1	185834950	185834950	+	Silent	SNP	A	A	C	rs377577511		TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr1:185834950A>C	ENST00000271588.4	+	4	805	c.576A>C	c.(574-576)acA>acC	p.T192T	HMCN1_ENST00000367492.2_Silent_p.T192T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	192	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T192T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGCCTCTACAAGTTCTGGTC	0.343																																																1	Substitution - coding silent(1)	ovary(1)	1						A		1,4405	2.1+/-5.4	0,1,2202	84	87	86		576	3.3	1	1		86	0,8600		0,0,4300	no	coding-synonymous	HMCN1	NM_031935.2		0,1,6502	CC,CA,AA		0.0,0.0227,0.0077		192/5636	185834950	1,13005	2203	4300	6503	184101573	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.576A>C	1.37:g.185834950A>C			184101573	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.343	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	185834950	A	C	185834950	2	2	14	1	0	0	0	0	0	0	0	1	7220	117	5	5		5	HMCN1	1	185834950	Silent	SNP	A	TCGA-04-1356-01A-01W-0492-08	26798843	185834950	63415671	7	747											
CACNA1S	779	broad.mit.edu	37	1	201039521	201039521	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr1:201039521C>T	ENST00000362061.3	-	17	2465	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E747K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	747					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E747K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTCATCTTCCTCGTCATCC	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											67	71	70					1																	201039521		2203	4300	6503	199306144	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2239G>A	1.37:g.201039521C>T	ENSP00000355192:p.Glu747Lys		199306144	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403402	0.83230	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96334	-3.98;-3.89	4.18	4.18	0.49190	.	0.296036	0.32386	N	0.006174	D	0.97813	0.9282	M	0.74546	2.27	0.58432	D	0.999998	D	0.76494	0.999	D	0.85130	0.997	D	0.98628	1.0670	10	0.62326	D	0.03	.	16.8708	0.86040	0.0:1.0:0.0:0.0	.	747	Q13698	CAC1S_HUMAN	K	747	ENSP00000355192:E747K;ENSP00000356307:E747K	ENSP00000355192:E747K	E	-	1	0	CACNA1S	199306144	1.000000	0.71417	0.995000	0.50966	0.549000	0.35272	7.770000	0.85390	2.032000	0.59987	0.643000	0.83706	GAA		0.597	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201039521	C	T	201039521	3	4	14	1	0	0	0	0	1	0	0	0	2547	864	30	2	3494	2	CACNA1S	1	201039521	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08	15204571	201039521	48211100	8	748											
ABCG5	64240	broad.mit.edu	37	2	44051194	44051194	+	Silent	SNP	C	C	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr2:44051194C>A	ENST00000260645.1	-	9	1321	c.1182G>T	c.(1180-1182)ctG>ctT	p.L394L	ABCG5_ENST00000405322.1_Silent_p.L223L|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	394	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.L394L(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AACCCATGATCAGATTCTGAA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	2											82	83	83					2																	44051194		2203	4300	6503	43904698	SO:0001819	synonymous_variant	64240			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1182G>T	2.37:g.44051194C>A			43904698	Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	CCDS1814.1																																																																																				0.458	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		A	44051194	C	A	44051194	2	1	14	1	0	0	0	0	0	0	0	1	71	813	29	3		3	ABCG5	2	44051194	Silent	SNP	C	TCGA-04-1356-01A-01W-0492-08		44051194	199148179	9	749											
PAPOLG	64895	broad.mit.edu	37	2	60998660	60998660	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr2:60998660C>G	ENST00000238714.3	+	7	748	c.499C>G	c.(499-501)Cta>Gta	p.L167V		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	167					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.L167V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAAGATTGATCTAGTCTTTGC	0.368																																					GBM(183;1497 2932 21839 46797)											1	Substitution - Missense(1)	ovary(1)	2											62	64	63					2																	60998660		2202	4300	6502	60852164	SO:0001583	missense	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.499C>G	2.37:g.60998660C>G	ENSP00000238714:p.Leu167Val		60852164	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396588	0.62177	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.38	2.62	0.31277	Nucleotidyl transferase domain (1);Poly(A) polymerase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.87269	2.87	0.53688	D	0.999977	P	0.46220	0.874	P	0.53760	0.734	T	0.74051	-0.3789	9	0.72032	D	0.01	-29.2594	8.7397	0.34550	0.0:0.7046:0.0:0.2954	.	167	Q9BWT3	PAPOG_HUMAN	V	167	.	ENSP00000238714:L167V	L	+	1	2	PAPOLG	60852164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.558000	0.36309	0.356000	0.24157	0.586000	0.80456	CTA		0.368	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		G	60998660	C	G	60998660	3	3	14	1	0	0	0	0	1	0	0	0	11431	912	32	3	525	3	PAPOLG	2	60998660	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08	16947466	60998660	182200713	10	750											
BMP10	27302	broad.mit.edu	37	2	69092852	69092852	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr2:69092852G>A	ENST00000295379.1	-	2	1344	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	396					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.P396S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						ATGGAGATGGGCTCTAGCTTT	0.493																																																1	Substitution - Missense(1)	ovary(1)	2											159	158	159					2																	69092852		2203	4300	6503	68946356	SO:0001583	missense	27302			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1186C>T	2.37:g.69092852G>A	ENSP00000295379:p.Pro396Ser		68946356	Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177756	0.78564	.	.	ENSG00000163217	ENST00000295379	D	0.88586	-2.4	6.17	6.17	0.99709	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91400	0.5142	10	0.52906	T	0.07	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	396	O95393	BMP10_HUMAN	S	396	ENSP00000295379:P396S	ENSP00000295379:P396S	P	-	1	0	BMP10	68946356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	CCC		0.493	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		A	69092852	G	A	69092852	3	1	14	1	0	0	0	0	1	0	0	0	1457	1203	42	2	92	2	BMP10	2	69092852	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08	8094192	69092852	174106521	11	751											
LRRTM1	347730	broad.mit.edu	37	2	80530192	80530192	+	Silent	SNP	C	C	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr2:80530192C>A	ENST00000295057.3	-	2	1409	c.753G>T	c.(751-753)tcG>tcT	p.S251S	LRRTM1_ENST00000409148.1_Silent_p.S251S|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	251					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S251S(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCCAGTCCAGCGAGCTGACCA	0.592										HNSCC(69;0.2)																																						1	Substitution - coding silent(1)	ovary(1)	2											87	84	85					2																	80530192		2203	4300	6503	80383703	SO:0001819	synonymous_variant	347730			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.753G>T	2.37:g.80530192C>A			80383703	A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	CCDS1966.1																																																																																				0.592	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		A	80530192	C	A	80530192	2	1	14	1	0	0	0	0	0	0	0	1	9039	755	27	3		3	LRRTM1	2	80530192	Silent	SNP	C	TCGA-04-1356-01A-01W-0492-08	11437340	80530192	162669181	12	752											
ZSWIM2	151112	broad.mit.edu	37	2	187692976	187692976	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr2:187692976T>C	ENST00000295131.2	-	9	1676	c.1637A>G	c.(1636-1638)aAa>aGa	p.K546R		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	546					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K546R(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTACAGCCTTTGGTCATCCG	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											98	93	95					2																	187692976		2203	4300	6503	187401221	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1637A>G	2.37:g.187692976T>C	ENSP00000295131:p.Lys546Arg		187401221	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	T	0.891	-0.725535	0.03158	.	.	ENSG00000163012	ENST00000295131	T	0.26067	1.76	5.4	1.59	0.23543	.	0.213391	0.33272	N	0.005082	T	0.14013	0.0339	L	0.28192	0.835	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.15780	-1.0425	10	0.34782	T	0.22	-10.8098	4.4195	0.11474	0.0:0.1882:0.1682:0.6436	.	546	Q8NEG5	ZSWM2_HUMAN	R	546	ENSP00000295131:K546R	ENSP00000295131:K546R	K	-	2	0	ZSWIM2	187401221	0.475000	0.25894	0.032000	0.17829	0.100000	0.18952	0.652000	0.24888	0.358000	0.24211	-0.619000	0.04042	AAA		0.398	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		C	187692976	T	C	187692976	3	2	14	1	0	0	0	0	1	0	0	0	18241	1841	64	4	268	4	ZSWIM2	2	187692976	Missense_Mutation	SNP	T	TCGA-04-1356-01A-01W-0492-08	107162784	187692976	55506397	13	753											
BOC	91653	broad.mit.edu	37	3	112969452	112969452	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr3:112969452G>A	ENST00000495514.1	+	4	852	c.148G>A	c.(148-150)Gga>Aga	p.G50R	BOC_ENST00000355385.3_Missense_Mutation_p.G50R|BOC_ENST00000484034.1_Missense_Mutation_p.G50R|BOC_ENST00000485230.1_Missense_Mutation_p.G50R|BOC_ENST00000273395.4_Missense_Mutation_p.G50R			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	50	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G50R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCAGAAGCCCGGAGGCACTGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	3											124	117	120					3																	112969452		2203	4300	6503	114452142	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.148G>A	3.37:g.112969452G>A	ENSP00000418663:p.Gly50Arg		114452142	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	g	33	5.267577	0.95399	.	.	ENSG00000144857	ENST00000464546;ENST00000495514;ENST00000485230;ENST00000273395;ENST00000355385;ENST00000484034	D;T;T;T;T;T	0.84223	-1.82;0.11;0.11;0.11;0.11;0.11	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	H	0.94658	3.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.95507	0.8582	10	0.66056	D	0.02	.	20.025	0.97521	0.0:0.0:1.0:0.0	.	50;50;50;50	C9J2L7;Q9BWV1-3;Q9BWV1;Q96DN7	.;.;BOC_HUMAN;.	R	50	ENSP00000417362:G50R;ENSP00000418663:G50R;ENSP00000420154:G50R;ENSP00000273395:G50R;ENSP00000347546:G50R;ENSP00000417337:G50R	ENSP00000273395:G50R	G	+	1	0	BOC	114452142	1.000000	0.71417	0.815000	0.32552	0.950000	0.60333	9.331000	0.96430	2.730000	0.93505	0.651000	0.88453	GGA		0.577	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		A	112969452	G	A	112969452	3	1	14	1	0	0	0	0	1	0	0	0	1481	1117	39	1	154	1	BOC	3	112969452	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08		112969452	85052978	14	754											
HERC6	55008	broad.mit.edu	37	4	89314721	89314721	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr4:89314721C>T	ENST00000264346.7	+	5	805	c.746C>T	c.(745-747)gCg>gTg	p.A249V	HERC6_ENST00000273960.3_Missense_Mutation_p.A249V|HERC6_ENST00000380265.5_Missense_Mutation_p.A249V	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	249					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A249V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GCACACACTGCGGTGCTTACC	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											96	94	95					4																	89314721		1887	4125	6012	89533744	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.746C>T	4.37:g.89314721C>T	ENSP00000264346:p.Ala249Val		89533744	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451789	0.26074	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;T;D	0.84146	-1.81;-1.36;-1.81	4.49	2.73	0.32206	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.172305	0.39615	N	0.001316	T	0.73016	0.3533	L	0.33093	0.98	0.32149	N	0.584432	P;P	0.43094	0.631;0.799	B;B	0.40101	0.213;0.319	T	0.70887	-0.4750	10	0.10111	T	0.7	.	8.2081	0.31467	0.1563:0.7584:0.0:0.0853	.	249;249	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	V	249	ENSP00000369617:A249V;ENSP00000273960:A249V;ENSP00000264346:A249V	ENSP00000264346:A249V	A	+	2	0	HERC6	89533744	1.000000	0.71417	0.884000	0.34674	0.006000	0.05464	5.273000	0.65564	0.516000	0.28340	-0.291000	0.09656	GCG		0.408	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			T	89314721	C	T	89314721	3	4	14	1	0	0	0	0	1	0	0	0	7062	768	27	1	561	1	HERC6	4	89314721	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08		89314721	101839555	15	755											
LARP7	51574	broad.mit.edu	37	4	113570785	113570785	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr4:113570785T>G	ENST00000344442.5	+	9	1515	c.1237T>G	c.(1237-1239)Tca>Gca	p.S413A	LARP7_ENST00000509061.1_Missense_Mutation_p.S420A|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302A_ENST00000385192.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000362188.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.S413A	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	413					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S413A(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAAATCAGAGTCAGAAATGGA	0.318																																																1	Substitution - Missense(1)	ovary(1)	4											58	56	57					4																	113570785		2202	4299	6501	113790234	SO:0001583	missense	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1237T>G	4.37:g.113570785T>G	ENSP00000344950:p.Ser413Ala		113790234	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	CCDS3701.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.816|8.816	0.936305|0.936305	0.18206|0.18206	.|.	.|.	ENSG00000174720|ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000513553;ENST00000324052|ENST00000511529	T;T;T|.	0.17213|.	2.29;2.29;2.29|.	5.64|5.64	2.99|2.99	0.34606|0.34606	.|.	0.629649|0.629649	0.15806|0.15806	N|N	0.243734|0.243734	T|T	0.40979|0.40979	0.1139|0.1139	M|M	0.65975|0.65975	2.015|2.015	0.22728|0.22728	N|N	0.998803|0.998803	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.39542|0.39542	-0.9609|-0.9609	10|6	0.16420|.	T|.	0.52|.	-14.1722|-14.1722	1.3701|1.3701	0.02209|0.02209	0.2765:0.0829:0.2776:0.3629|0.2765:0.0829:0.2776:0.3629	.|.	413|.	Q4G0J3|.	LARP7_HUMAN|.	A|R	413;420;81;413|206	ENSP00000344950:S413A;ENSP00000422626:S420A;ENSP00000314311:S413A|.	ENSP00000314311:S413A|.	S|S	+|+	1|3	0|2	LARP7|LARP7	113790234|113790234	0.978000|0.978000	0.34361|0.34361	0.907000|0.907000	0.35723|0.35723	0.794000|0.794000	0.44872|0.44872	0.602000|0.602000	0.24134|0.24134	0.927000|0.927000	0.37143|0.37143	0.482000|0.482000	0.46254|0.46254	TCA|AGT		0.318	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		G	113570785	T	G	113570785	3	3	14	1	0	0	0	0	1	0	0	0	8633	1667	58	5	1267	5	LARP7	4	113570785	Missense_Mutation	SNP	T	TCGA-04-1356-01A-01W-0492-08	24256064	113570785	77583491	16	756											
TNIP1	10318	broad.mit.edu	37	5	150441739	150441739	+	Silent	SNP	G	G	C			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr5:150441739G>C	ENST00000389378.2	-	4	894	c.306C>G	c.(304-306)gcC>gcG	p.A102A	TNIP1_ENST00000315050.7_Silent_p.A102A|TNIP1_ENST00000522226.1_Silent_p.A102A|TNIP1_ENST00000523200.1_Silent_p.A102A|TNIP1_ENST00000518977.1_Silent_p.A102A|TNIP1_ENST00000521591.1_Silent_p.A102A|TNIP1_ENST00000523338.1_Silent_p.A102A|TNIP1_ENST00000520931.1_Silent_p.A49A|TNIP1_ENST00000524280.1_Silent_p.A102A	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	102	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.A102A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCATGCAGGGGCTGTGGGAG	0.532																																																1	Substitution - coding silent(1)	ovary(1)	5											132	117	122					5																	150441739		2203	4300	6503	150421932	SO:0001819	synonymous_variant	10318			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.306C>G	5.37:g.150441739G>C			150421932	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	37	CCDS34280.1																																																																																				0.532	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		C	150441739	G	C	150441739	2	2	14	1	0	0	0	0	0	0	0	1	16314	1219	43	3		3	TNIP1	5	150441739	Silent	SNP	G	TCGA-04-1356-01A-01W-0492-08		150441739	30473521	17	757											
SERPINB1	1992	broad.mit.edu	37	6	2834180	2834180	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr6:2834180C>T	ENST00000380739.5	-	7	1004	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SERPINB1_ENST00000537185.1_Missense_Mutation_p.E117K|SERPINB1_ENST00000476896.1_5'Flank	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	268					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E268K(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		ACATTAACTTCAATGAAATCG	0.438																																																1	Substitution - Missense(1)	ovary(1)	6											45	40	42					6																	2834180		2203	4300	6503	2779179	SO:0001583	missense	1992			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.802G>A	6.37:g.2834180C>T	ENSP00000370115:p.Glu268Lys		2779179	A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867356	0.51588	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	D;D	0.84442	-1.85;-1.85	5.48	4.6	0.57074	Serpin domain (3);	0.475569	0.23123	N	0.051670	T	0.61788	0.2375	N	0.12663	0.25	0.45118	D	0.998136	B	0.10296	0.003	B	0.11329	0.006	T	0.58418	-0.7640	10	0.32370	T	0.25	.	15.6248	0.76845	0.0:0.8621:0.1379:0.0	.	268	P30740	ILEU_HUMAN	K	268;230;117	ENSP00000370115:E268K;ENSP00000444543:E117K	ENSP00000370115:E268K	E	-	1	0	SERPINB1	2779179	1.000000	0.71417	0.025000	0.17156	0.027000	0.11550	4.707000	0.61852	1.436000	0.47453	-0.291000	0.09656	GAA		0.438	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			T	2834180	C	T	2834180	3	4	14	1	0	0	0	0	1	0	0	0	14099	835	29	2	341	2	SERPINB1	6	2834180	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08		2834180	168280887	18	758											
ABCF1	23	broad.mit.edu	37	6	30550179	30550193	+	In_Frame_Del	DEL	GGAAGAAGGAGAAGG	GGAAGAAGGAGAAGG	-			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	GGAAGAAGGAGAAGG	GGAAGAAGGAGAAGG	-	-	GGAAGAAGGAGAAGG	GGAAGAAGGAGAAGG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr6:30550179_30550193delGGAAGAAGGAGAAGG	ENST00000326195.8	+	9	799_813	c.687_701delGGAAGAAGGAGAAGG	c.(685-702)gaggaagaaggagaaggg>gag	p.EEGEG230del	ABCF1_ENST00000376545.3_Intron|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	230	Glu-rich.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.G232_E236del(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGGGTTCagaggaagaaggagaaggggaagaagag	0.521																																																1	Deletion - In frame(1)	ovary(1)	6																																								30658172	SO:0001651	inframe_deletion	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.687_701delGGAAGAAGGAGAAGG	6.37:g.30550179_30550193delGGAAGAAGGAGAAGG	ENSP00000313603:p.Glu230_Gly234del		30658158	A2BF75|O14897|Q69YP6	In_Frame_Del	DEL	ENST00000326195.8	37	CCDS34380.1																																																																																				0.521	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			-	30550193	GGAAGAAGGAGAAGG	-	30550179	7	5	14	1	0	1	0	1	0	0	0	0	65	991	35	0	721	0	ABCF1	6	30550179	In_Frame_Del	DEL	GGAAGAAGGAGAAGG	TCGA-04-1356-01A-01W-0492-08	27715999	30550179	140564888	19	759											
AIF1	199	broad.mit.edu	37	6	31584121	31584121	+	Splice_Site	SNP	A	A	T			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr6:31584121A>T	ENST00000376059.3	+	5	343	c.197A>T	c.(196-198)gAt>gTt	p.D66V	AIF1_ENST00000376049.4_Splice_Site_p.D12V	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	66	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.D78V(1)|p.D66V(1)		lung(2)|ovary(1)	3						CTGCCCCCAGATATCATGTCC	0.557																																					Ovarian(23;358 734 36938 38933 52312)											2	Substitution - Missense(2)	ovary(2)	6											77	67	70					6																	31584121		1510	2709	4219	31692100	SO:0001630	splice_region_variant	199			U19713	CCDS4706.1, CCDS34398.1	6p21.3	2013-01-10			ENSG00000204472	ENSG00000204472		"EF-hand domain containing"	352	protein-coding gene	gene with protein product	"interferon gamma responsive transcript", "ionized calcium-binding adapter molecule 1"	601833				8912632	Standard	NM_032955		Approved	IRT-1, AIF-1, Em:AF129756.17, IBA1	uc003nuy.3	P55008	OTTHUMG00000031246	ENST00000376059.3:c.197-1A>T	6.37:g.31584121A>T			31692100	A8K406|O43904|Q9UIV4|Q9UKS9	Missense_Mutation	SNP	ENST00000376059.3	37	CCDS4706.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852460	0.71719	.	.	ENSG00000204472	ENST00000376059;ENST00000337917;ENST00000376049	T;T;T	0.50001	0.76;0.76;0.76	4.19	4.19	0.49359	EF-hand-like domain (1);	0.000000	0.64402	D	0.000004	T	0.68091	0.2963	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.957	T	0.76394	-0.2975	9	.	.	.	.	11.5396	0.50659	1.0:0.0:0.0:0.0	.	78;66	O43904;P55008	.;AIF1_HUMAN	V	66;80;12	ENSP00000365227:D66V;ENSP00000338776:D80V;ENSP00000365217:D12V	.	D	+	2	0	AIF1	31692100	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	8.682000	0.91232	1.903000	0.55091	0.460000	0.39030	GAT		0.557	AIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076512.3		Missense_Mutation	T	31584121	A	T	31584121	5	4	14	1	0	0	0	0	0	0	1	0	424	347	12	5	409	5	AIF1	6	31584121	Splice_Site	SNP	A	TCGA-04-1356-01A-01W-0492-08	1033942	31584121	139530946	20	760											
LRFN2	57497	broad.mit.edu	37	6	40400152	40400152	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr6:40400152G>T	ENST00000338305.6	-	2	1243	c.701C>A	c.(700-702)cCc>cAc	p.P234H		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	234						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P234H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAGGACAAGGGTGGGGCAAA	0.597																																																1	Substitution - Missense(1)	ovary(1)	6											34	41	39					6																	40400152		2203	4300	6503	40508130	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.701C>A	6.37:g.40400152G>T	ENSP00000345985:p.Pro234His		40508130	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567547	0.28003	.	.	ENSG00000156564	ENST00000338305	T	0.02369	4.32	5.42	5.42	0.78866	.	0.403421	0.30285	N	0.009970	T	0.02848	0.0085	L	0.42245	1.32	0.19300	N	0.999977	P	0.40660	0.726	P	0.45913	0.497	T	0.24657	-1.0154	10	0.62326	D	0.03	.	17.7794	0.88519	0.0:0.0:1.0:0.0	.	234	Q9ULH4	LRFN2_HUMAN	H	234	ENSP00000345985:P234H	ENSP00000345985:P234H	P	-	2	0	LRFN2	40508130	1.000000	0.71417	0.016000	0.15963	0.668000	0.39293	2.638000	0.46562	2.558000	0.86282	0.563000	0.77884	CCC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40400152	G	T	40400152	3	4	14	1	0	0	0	0	1	0	0	0	8938	1232	43	3	1676	3	LRFN2	6	40400152	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08	8816031	40400152	130714915	21	761											
PRPH2	5961	broad.mit.edu	37	6	42689611	42689611	+	Missense_Mutation	SNP	C	C	G	rs61755786		TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr6:42689611C>G	ENST00000230381.5	-	1	701	c.462G>C	c.(460-462)aaG>aaC	p.K154N		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	154					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.K154N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGTCGATGGTCTTCTTCATGA	0.537																																																1	Substitution - Missense(1)	ovary(1)	6											120	106	111					6																	42689611		2203	4300	6503	42797589	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.462G>C	6.37:g.42689611C>G	ENSP00000230381:p.Lys154Asn		42797589	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884164	0.51908	.	.	ENSG00000112619	ENST00000230381	T	0.79352	-1.26	5.78	5.78	0.91487	Tetraspanin, EC2 domain (1);	0.042558	0.85682	D	0.000000	T	0.55986	0.1955	L	0.45137	1.4	0.48341	D	0.99963	B	0.22480	0.07	B	0.32393	0.145	T	0.51919	-0.8644	10	0.02654	T	1	.	14.5301	0.67920	0.0:0.93:0.0:0.07	.	154	P23942	PRPH2_HUMAN	N	154	ENSP00000230381:K154N	ENSP00000230381:K154N	K	-	3	2	PRPH2	42797589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.166000	0.31834	2.894000	0.99253	0.655000	0.94253	AAG		0.537	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		G	42689611	C	G	42689611	3	3	14	1	0	0	0	0	1	0	0	0	12580	912	32	3	590	3	PRPH2	6	42689611	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08	2289459	42689611	128425456	22	762											
EPHA1	2041	broad.mit.edu	37	7	143094667	143094667	+	Missense_Mutation	SNP	C	C	T	rs555414886		TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr7:143094667C>T	ENST00000275815.3	-	9	1785	c.1699G>A	c.(1699-1701)Gtt>Att	p.V567I		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	567					activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.V567I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GACCGGAAAACGAGAATCCCA	0.612													C|||	1	0.000199681	0	0	5008	,	,		17086	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	7											81	78	79					7																	143094667		2203	4300	6503	142804789	SO:0001583	missense	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1699G>A	7.37:g.143094667C>T	ENSP00000275815:p.Val567Ile		142804789	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.299078	0.01364	.	.	ENSG00000146904	ENST00000275815	T	0.09538	2.97	5.72	-4.79	0.03200	.	1.179830	0.06167	N	0.676995	T	0.03477	0.0100	N	0.10916	0.065	0.09310	N	0.999999	B	0.09022	0.002	B	0.01281	0.0	T	0.39643	-0.9604	10	0.06236	T	0.91	.	1.2298	0.01941	0.3618:0.1989:0.0893:0.35	.	567	P21709	EPHA1_HUMAN	I	567	ENSP00000275815:V567I	ENSP00000275815:V567I	V	-	1	0	EPHA1	142804789	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-1.724000	0.01865	-1.007000	0.03408	0.655000	0.94253	GTT		0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			T	143094667	C	T	143094667	3	4	14	1	0	0	0	0	1	0	0	0	5165	536	19	1	1271	1	EPHA1	7	143094667	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08		143094667	16043996	23	763											
CNBD1	168975	broad.mit.edu	37	8	88249150	88249150	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr8:88249150T>G	ENST00000518476.1	+	6	632	c.581T>G	c.(580-582)gTt>gGt	p.V194G	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	194								p.V194G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTTCAGTGGTTGCAAATGAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	8											146	126	132					8																	88249150		1814	4070	5884	88318266	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.581T>G	8.37:g.88249150T>G	ENSP00000430073:p.Val194Gly		88318266		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	T	5.005	0.186536	0.09495	.	.	ENSG00000176571	ENST00000518476	D	0.96940	-4.18	4.29	0.356	0.16074	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	2.721960	0.01163	N	0.006684	D	0.91673	0.7368	N	0.19112	0.55	0.09310	N	1	B	0.19583	0.037	B	0.22386	0.039	T	0.82604	-0.0375	10	0.66056	D	0.02	0.0	2.8199	0.05468	0.3887:0.1191:0.0:0.4922	.	194	Q8NA66	CNBD1_HUMAN	G	194	ENSP00000430073:V194G	ENSP00000430073:V194G	V	+	2	0	CNBD1	88318266	0.168000	0.22989	0.036000	0.18154	0.197000	0.23852	0.290000	0.18975	0.051000	0.15978	0.533000	0.62120	GTT		0.348	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		G	88249150	T	G	88249150	3	3	14	1	0	0	0	0	1	0	0	0	3591	1725	60	5	603	5	CNBD1	8	88249150	Missense_Mutation	SNP	T	TCGA-04-1356-01A-01W-0492-08		88249150	58114872	24	764											
PKHD1L1	93035	broad.mit.edu	37	8	110535077	110535077	+	Silent	SNP	G	G	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr8:110535077G>A	ENST00000378402.5	+	75	12392	c.12288G>A	c.(12286-12288)caG>caA	p.Q4096Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4096					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q4100Q(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCCAGGACAGCCATTTCCTC	0.473										HNSCC(38;0.096)																																						1	Substitution - coding silent(1)	ovary(1)	8											41	47	45					8																	110535077		2187	4293	6480	110604253	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12288G>A	8.37:g.110535077G>A			110604253	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.473	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110535077	G	A	110535077	2	1	14	1	0	0	0	0	0	0	0	1	11972	962	34	2		2	PKHD1L1	8	110535077	Silent	SNP	G	TCGA-04-1356-01A-01W-0492-08	22285927	110535077	35828945	25	765											
RFX3	5991	broad.mit.edu	37	9	3301562	3301562	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr9:3301562G>C	ENST00000382004.3	-	6	844	c.533C>G	c.(532-534)tCt>tGt	p.S178C	RFX3_ENST00000302303.1_Missense_Mutation_p.S178C|RFX3_ENST00000358730.2_Missense_Mutation_p.S178C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	178					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S178C(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTTGAGAAGAGAGCTTCTGTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											158	136	144					9																	3301562		2203	4300	6503	3291562	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.533C>G	9.37:g.3301562G>C	ENSP00000371434:p.Ser178Cys		3291562	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756119	0.89843	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000451859	D;D;D;T	0.83506	-1.73;-1.73;-1.73;1.35	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.999	D;P;D	0.79108	0.992;0.773;0.975	D	0.87504	0.2435	10	0.62326	D	0.03	-12.8703	20.2079	0.98282	0.0:0.0:1.0:0.0	.	178;178;178	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	C	178	ENSP00000371434:S178C;ENSP00000351574:S178C;ENSP00000303847:S178C;ENSP00000411756:S178C	ENSP00000303847:S178C	S	-	2	0	RFX3	3291562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.669000	0.74462	2.781000	0.95711	0.655000	0.94253	TCT		0.393	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		C	3301562	G	C	3301562	3	2	14	1	0	0	0	0	1	0	0	0	13267	942	33	3	1924	3	RFX3	9	3301562	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08		3301562	137911869	26	766											
FCN1	2219	broad.mit.edu	37	9	137809649	137809649	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr9:137809649C>G	ENST00000371806.3	-	1	160	c.69G>C	c.(67-69)aaG>aaC	p.K23N		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	23					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.K23N(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CAGGCAGGTTCTTGATATGCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	9											93	88	90					9																	137809649		2203	4300	6503	136949470	SO:0001583	missense	2219			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.69G>C	9.37:g.137809649C>G	ENSP00000360871:p.Lys23Asn		136949470	Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	9.089	1.001179	0.19121	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.82803	-1.65	3.92	-1.68	0.08212	.	.	.	.	.	T	0.66208	0.2766	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.25759	0.063	T	0.49771	-0.8904	9	0.19147	T	0.46	.	0.4263	0.00464	0.1897:0.3243:0.1864:0.2996	.	23	O00602	FCN1_HUMAN	N	23	ENSP00000360871:K23N	ENSP00000308877:K23N	K	-	3	2	FCN1	136949470	0.000000	0.05858	0.000000	0.03702	0.381000	0.30169	-0.236000	0.09003	-0.204000	0.10235	0.579000	0.79373	AAG		0.582	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		G	137809649	C	G	137809649	3	3	14	1	0	0	0	0	1	0	0	0	5791	912	32	3	947	3	FCN1	9	137809649	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08	134508087	137809649	3403782	27	767											
KRTAP5-3	387266	broad.mit.edu	37	11	1629565	1629565	+	Silent	SNP	A	A	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr11:1629565A>G	ENST00000399685.1	-	1	128	c.51T>C	c.(49-51)tgT>tgC	p.C17C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	17						keratin filament (GO:0045095)		p.C17C(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGCTGGAGCCACAGCCCCCAC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	11											47	61	56					11																	1629565		2189	4284	6473	1586141	SO:0001819	synonymous_variant	387266			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.51T>C	11.37:g.1629565A>G			1586141	Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	CCDS41591.1																																																																																				0.662	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			G	1629565	A	G	1629565	2	3	14	1	0	0	0	0	0	0	0	1	8562	157	6	4		4	KRTAP5-3	11	1629565	Silent	SNP	A	TCGA-04-1356-01A-01W-0492-08		1629565	133376951	28	768											
ACCSL	390110	broad.mit.edu	37	11	44075012	44075012	+	Silent	SNP	C	C	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr11:44075012C>A	ENST00000378832.1	+	8	1061	c.1005C>A	c.(1003-1005)atC>atA	p.I335I		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	335					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.I335I(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGGGTGACATCTACTCCCCAG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	11											111	104	106					11																	44075012		1863	4095	5958	44031588	SO:0001819	synonymous_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1005C>A	11.37:g.44075012C>A			44031588		Silent	SNP	ENST00000378832.1	37	CCDS41636.1																																																																																				0.438	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		A	44075012	C	A	44075012	2	1	14	1	0	0	0	0	0	0	0	1	134	903	32	3		3	ACCSL	11	44075012	Silent	SNP	C	TCGA-04-1356-01A-01W-0492-08	42445447	44075012	90931504	29	769											
NUP160	23279	broad.mit.edu	37	11	47869819	47869819	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr11:47869819C>G	ENST00000378460.2	-	1	200	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	NUP160_ENST00000530326.1_5'UTR|NUP160_ENST00000526870.1_Missense_Mutation_p.E52Q|NUP160_ENST00000532747.1_Missense_Mutation_p.E18Q	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	52					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.E52Q(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CTTTCGCGCTCAGCTCCGCTT	0.667																																																1	Substitution - Missense(1)	ovary(1)	11											63	65	64					11																	47869819		2201	4298	6499	47826395	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.154G>C	11.37:g.47869819C>G	ENSP00000367721:p.Glu52Gln		47826395	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131427	0.56828	.	.	ENSG00000030066	ENST00000378460;ENST00000532747;ENST00000526870	T;T;T	0.54479	1.3;0.61;0.57	5.01	4.09	0.47781	.	0.067343	0.56097	D	0.000022	T	0.51991	0.1707	N	0.24115	0.695	0.28169	N	0.928651	D;D	0.76494	0.999;0.966	D;P	0.64776	0.929;0.462	T	0.43065	-0.9414	10	0.54805	T	0.06	.	7.7716	0.29012	0.1646:0.7478:0.0:0.0876	.	52;52	Q12769-2;Q12769	.;NU160_HUMAN	Q	52;18;52	ENSP00000367721:E52Q;ENSP00000432437:E18Q;ENSP00000431495:E52Q	ENSP00000367721:E52Q	E	-	1	0	NUP160	47826395	0.987000	0.35691	0.943000	0.38184	0.182000	0.23217	1.741000	0.38238	2.487000	0.83934	0.491000	0.48974	GAG		0.667	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		G	47869819	C	G	47869819	3	3	14	1	0	0	0	0	1	0	0	0	10757	835	29	3	4300	3	NUP160	11	47869819	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08	3794807	47869819	87136697	30	770											
FADD	8772	broad.mit.edu	37	11	70052294	70052294	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr11:70052294G>C	ENST00000301838.4	+	2	639	c.342G>C	c.(340-342)agG>agC	p.R114S	RP11-805J14.5_ENST00000526174.1_RNA|RP11-805J14.5_ENST00000527232.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	114	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.R114S(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ATTGGAGAAGGCTGGCTCGTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											82	68	73					11																	70052294		2200	4294	6494	69729942	SO:0001583	missense	8772			U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"Fas-associating protein with death domain", "Fas-associating death domain-containing protein", "mediator of receptor-induced toxicity", "growth-inhibiting gene 3 protein"	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.342G>C	11.37:g.70052294G>C	ENSP00000301838:p.Arg114Ser		69729942	Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013362	0.35511	.	.	ENSG00000168040	ENST00000301838	D	0.86097	-2.07	4.99	-9.98	0.00438	Death (3);DEATH-like (3);	0.355549	0.30658	N	0.009150	D	0.83649	0.5300	L	0.50919	1.6	0.21719	N	0.999578	D	0.59767	0.986	P	0.53760	0.734	T	0.83308	-0.0024	10	0.52906	T	0.07	-19.7511	19.5181	0.95174	0.1117:0.0:0.7917:0.0966	.	114	Q13158	FADD_HUMAN	S	114	ENSP00000301838:R114S	ENSP00000301838:R114S	R	+	3	2	FADD	69729942	0.261000	0.24063	0.000000	0.03702	0.291000	0.27294	-0.159000	0.10056	-2.069000	0.00882	-1.069000	0.02264	AGG		0.498	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824		C	70052294	G	C	70052294	3	2	14	1	0	0	0	0	1	0	0	0	5364	1194	42	3	348	3	FADD	11	70052294	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08	22182475	70052294	64954222	31	771											
RSF1	51773	broad.mit.edu	37	11	77378188	77378188	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr11:77378188T>C	ENST00000308488.6	-	16	4402	c.4100A>G	c.(4099-4101)gAc>gGc	p.D1367G	RSF1_ENST00000480887.1_Missense_Mutation_p.D1115G|RSF1_ENST00000360355.2_Missense_Mutation_p.D1336G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1367					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.D1367G(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGAAGGTAAGTCCACTAAGCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											135	122	126					11																	77378188		2200	4292	6492	77055836	SO:0001583	missense	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.4100A>G	11.37:g.77378188T>C	ENSP00000311513:p.Asp1367Gly		77055836	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132250	0.56828	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	D;D;D	0.87571	-2.25;-2.27;-2.25	4.83	4.83	0.62350	.	0.121113	0.37393	N	0.002119	D	0.86418	0.5928	N	0.22421	0.69	0.48696	D	0.999691	D	0.61697	0.99	P	0.57204	0.815	D	0.88465	0.3058	10	0.72032	D	0.01	-16.0851	14.5242	0.67875	0.0:0.0:0.0:1.0	.	1367	Q96T23	RSF1_HUMAN	G	1367;1115;1336	ENSP00000311513:D1367G;ENSP00000434509:D1115G;ENSP00000353511:D1336G	ENSP00000311513:D1367G	D	-	2	0	RSF1	77055836	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.203000	0.65174	2.165000	0.68154	0.379000	0.24179	GAC		0.498	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		C	77378188	T	C	77378188	3	2	14	1	0	0	0	0	1	0	0	0	13702	1667	58	4	229	4	RSF1	11	77378188	Missense_Mutation	SNP	T	TCGA-04-1356-01A-01W-0492-08	7325894	77378188	57628328	32	772											
CARD18	59082	broad.mit.edu	37	11	105009751	105009751	+	Missense_Mutation	SNP	G	G	T	rs375563255		TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr11:105009751G>T	ENST00000530950.1	-	2	61	c.62C>A	c.(61-63)aCa>aAa	p.T21K	CARD18_ENST00000532895.1_5'UTR|CARD18_ENST00000526823.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	21	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.T21K(1)		central_nervous_system(1)|ovary(1)	2						GGCATTTATTGTGCCTGCACC	0.388																																																1	Substitution - Missense(1)	ovary(1)	11											142	128	133					11																	105009751		1889	4116	6005	104514961	SO:0001583	missense	59082			AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.62C>A	11.37:g.105009751G>T	ENSP00000436691:p.Thr21Lys		104514961	A2RRF8	Missense_Mutation	SNP	ENST00000530950.1	37	CCDS53705.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.609658	0.46527	.	.	ENSG00000255501	ENST00000530950	T	0.21361	2.01	2.85	1.89	0.25635	DEATH-like (2);Caspase Recruitment (3);	0.504996	0.20525	U	0.090635	T	0.38108	0.1028	.	.	.	0.09310	N	0.999996	D	0.71674	0.998	D	0.77004	0.989	T	0.05225	-1.0898	9	0.66056	D	0.02	.	6.944	0.24508	0.0:0.0:0.7266:0.2734	.	21	P57730	CAR18_HUMAN	K	21	ENSP00000436691:T21K	ENSP00000436691:T21K	T	-	2	0	CARD18	104514961	0.000000	0.05858	0.012000	0.15200	0.320000	0.28249	0.363000	0.20301	0.740000	0.32651	0.552000	0.68991	ACA		0.388	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388183.2	NM_021571		T	105009751	G	T	105009751	3	4	14	1	0	0	0	0	1	0	0	0	2649	1377	48	3	214	3	CARD18	11	105009751	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08	27631563	105009751	29996765	33	773											
VWF	7450	broad.mit.edu	37	12	6128552	6128552	+	Silent	SNP	G	G	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr12:6128552G>A	ENST00000261405.5	-	28	4286	c.4032C>T	c.(4030-4032)gcC>gcT	p.A1344A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1344	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.A1344A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCTGGCTGGCAATGCGCC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	12											51	47	48					12																	6128552		2203	4300	6503	5998813	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4032C>T	12.37:g.6128552G>A			5998813	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.617	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6128552	G	A	6128552	2	1	14	1	0	0	0	0	0	0	0	1	17246	1335	47	2		2	VWF	12	6128552	Silent	SNP	G	TCGA-04-1356-01A-01W-0492-08		6128552	127723343	34	774											
RBP5	9746	broad.mit.edu	37	12	7280886	7280886	+	5'Flank	SNP	C	C	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr12:7280886C>G	ENST00000266546.6	+	0	0				RP11-273B20.1_ENST00000544657.1_RNA|RP11-273B20.1_ENST00000538062.1_RNA|RBP5_ENST00000266560.3_Missense_Mutation_p.G68R|RBP5_ENST00000542370.1_Missense_Mutation_p.G68R	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.G68R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AACTCCACTCCCACATCAAAC	0.587																																																1	Substitution - Missense(1)	ovary(1)	12											167	133	145					12																	7280886		2203	4300	6503	7172153	SO:0001631	upstream_gene_variant	83758			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167		12.37:g.7280886C>G	Exception_encountered		7172153	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576150	0.65878	.	.	ENSG00000139194	ENST00000266560;ENST00000542370	T;T	0.59502	0.26;0.26	3.55	3.55	0.40652	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.78065	0.4225	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83475	0.0061	10	0.87932	D	0	.	16.4215	0.83760	0.0:1.0:0.0:0.0	.	68	P82980	RET5_HUMAN	R	68	ENSP00000266560:G68R;ENSP00000438083:G68R	ENSP00000266560:G68R	G	-	1	0	RBP5	7172153	1.000000	0.71417	0.541000	0.28102	0.173000	0.22820	5.571000	0.67404	2.270000	0.75569	0.491000	0.48974	GGA		0.587	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		G	7280886	C	G	7280886	1	3	14	0	1	0	0	0	0	0	0	0	13162	632	22	3		3	RBP5	12	7280886	5'Flank	SNP	C	TCGA-04-1356-01A-01W-0492-08	1152334	7280886	126571009	35	775											
CD163L1	283316	broad.mit.edu	37	12	7527906	7527906	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr12:7527906T>C	ENST00000313599.3	-	11	3029	c.2972A>G	c.(2971-2973)cAt>cGt	p.H991R	CD163L1_ENST00000396630.1_Missense_Mutation_p.H991R|CD163L1_ENST00000416109.2_Missense_Mutation_p.H1001R|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	991	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.H991R(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGTATTTCCATGGATACAGGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											81	71	74					12																	7527906		2203	4300	6503	7419173	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2972A>G	12.37:g.7527906T>C	ENSP00000315945:p.His991Arg		7419173	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360019	0.41801	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.33438	1.41;1.41;1.41	2.29	-4.58	0.03410	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.406548	0.19898	U	0.103584	T	0.33323	0.0859	M	0.66939	2.045	0.09310	N	1	P;P	0.52170	0.951;0.888	P;P	0.50659	0.647;0.647	T	0.23440	-1.0188	10	0.56958	D	0.05	.	7.7559	0.28923	0.0:0.1223:0.661:0.2167	.	1001;991	E7EVK4;Q9NR16	.;C163B_HUMAN	R	991;1001;991	ENSP00000315945:H991R;ENSP00000393474:H1001R;ENSP00000379871:H991R	ENSP00000315945:H991R	H	-	2	0	CD163L1	7419173	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	-0.643000	0.05421	-1.236000	0.02542	0.374000	0.22700	CAT		0.438	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		C	7527906	T	C	7527906	3	2	14	1	0	0	0	0	1	0	0	0	2968	1464	51	4	1425	4	CD163L1	12	7527906	Missense_Mutation	SNP	T	TCGA-04-1356-01A-01W-0492-08	247020	7527906	126323989	36	776											
RNF31	55072	broad.mit.edu	37	14	24619652	24619652	+	Missense_Mutation	SNP	C	C	A	rs371872565		TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr14:24619652C>A	ENST00000324103.6	+	7	1512	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.L247I|RNF31_ENST00000559275.1_Missense_Mutation_p.L247I	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	398	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L398I(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCTGCAACCCCTTCAGGTAAC	0.542																																																1	Substitution - Missense(1)	ovary(1)	14											60	64	63					14																	24619652		2025	4177	6202	23689492	SO:0001583	missense	55072			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1192C>A	14.37:g.24619652C>A	ENSP00000315112:p.Leu398Ile		23689492	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	8.591	0.884620	0.17467	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.46063	0.88;0.91	5.44	3.64	0.41730	.	0.340268	0.27113	N	0.020874	T	0.39279	0.1072	M	0.68952	2.095	0.80722	D	1	B;B;B	0.30851	0.297;0.003;0.005	B;B;B	0.31390	0.129;0.004;0.017	T	0.24621	-1.0155	10	0.46703	T	0.11	-4.931	8.0681	0.30672	0.0:0.8202:0.0:0.1798	.	213;398;247	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	I	398;247	ENSP00000315112:L398I;ENSP00000372134:L247I	ENSP00000315112:L398I	L	+	1	0	RNF31	23689492	0.998000	0.40836	1.000000	0.80357	0.850000	0.48378	0.690000	0.25451	0.864000	0.35578	0.655000	0.94253	CTT		0.542	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		A	24619652	C	A	24619652	3	1	14	1	0	0	0	0	1	0	0	0	13490	681	24	3	1218	3	RNF31	14	24619652	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08		24619652	82729888	37	777											
TJP1	7082	broad.mit.edu	37	15	30010796	30010812	+	Frame_Shift_Del	DEL	TGGGCCCTGCTGAAGGG	TGGGCCCTGCTGAAGGG	-	rs199900091|rs376437256	byFrequency	TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	TGGGCCCTGCTGAAGGG	TGGGCCCTGCTGAAGGG	-	-	TGGGCCCTGCTGAAGGG	TGGGCCCTGCTGAAGGG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr15:30010796_30010812delTGGGCCCTGCTGAAGGG	ENST00000346128.6	-	21	4008_4024	c.3534_3550delCCCTTCAGCAGGGCCCA	c.(3532-3552)cacccttcagcagggcccaagfs	p.HPSAGPK1178fs	TJP1_ENST00000356107.6_Frame_Shift_Del_p.HPSAGPK1178fs|TJP1_ENST00000545208.2_Frame_Shift_Del_p.HPSAGPK1098fs|TJP1_ENST00000400011.2_Frame_Shift_Del_p.HPSAGPK1102fs	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1178					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.H1178fs*10(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTGCAGGCTTGGGCCCTGCTGAAGGGTGGGGCTGGG	0.553																																					Melanoma(77;681 1843 6309 6570)											1	Deletion - Frameshift(1)	ovary(1)	15																																								27798104	SO:0001589	frameshift_variant	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3534_3550delCCCTTCAGCAGGGCCCA	15.37:g.30010796_30010812delTGGGCCCTGCTGAAGGG	ENSP00000281537:p.His1178fs		27798088	B4E3K1|Q2NKP3|Q4ZGJ6	Frame_Shift_Del	DEL	ENST00000346128.6	37	CCDS42007.1																																																																																				0.553	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		-	30010812	TGGGCCCTGCTGAAGGG	-	30010796	7	5	14	1	0	1	0	1	0	0	0	0	15929	1821	63	0	1728	0	TJP1	15	30010796	Frame_Shift_Del	DEL	TGGGCCCTGCTGAAGGG	TCGA-04-1356-01A-01W-0492-08		30010796	72520596	38	778											
SHC4	399694	broad.mit.edu	37	15	49160022	49160022	+	Silent	SNP	A	A	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr15:49160022A>G	ENST00000332408.4	-	6	1367	c.939T>C	c.(937-939)aaT>aaC	p.N313N	SHC4_ENST00000396535.3_Silent_p.N70N|SHC4_ENST00000537958.1_Silent_p.N27N	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	313	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.N313N(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TACCTCGTTGATTAACTGGAT	0.333																																																1	Substitution - coding silent(1)	ovary(1)	15											124	123	123					15																	49160022		2197	4295	6492	46947314	SO:0001819	synonymous_variant	399694			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.939T>C	15.37:g.49160022A>G			46947314	Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	CCDS10130.1																																																																																				0.333	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		G	49160022	A	G	49160022	2	3	14	1	0	0	0	0	0	0	0	1	14276	330	12	4		4	SHC4	15	49160022	Silent	SNP	A	TCGA-04-1356-01A-01W-0492-08	19149226	49160022	53371370	39	779											
HCN4	10021	broad.mit.edu	37	15	73617422	73617422	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr15:73617422G>T	ENST00000261917.3	-	6	2845	c.1852C>A	c.(1852-1854)Cct>Act	p.P618T		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	618					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P618T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TAGTCCCCAGGCTGGAAGACC	0.562																																																1	Substitution - Missense(1)	ovary(1)	15											141	116	124					15																	73617422		2198	4297	6495	71404475	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1852C>A	15.37:g.73617422G>T	ENSP00000261917:p.Pro618Thr		71404475	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556380	0.65425	.	.	ENSG00000138622	ENST00000261917	D	0.97505	-4.41	3.65	3.65	0.41850	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	.	.	.	.	D	0.98182	0.9399	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99267	1.0892	9	0.87932	D	0	.	15.5397	0.76031	0.0:0.0:1.0:0.0	.	618	Q9Y3Q4	HCN4_HUMAN	T	618	ENSP00000261917:P618T	ENSP00000261917:P618T	P	-	1	0	HCN4	71404475	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	9.494000	0.97962	1.877000	0.54381	0.561000	0.74099	CCT		0.562	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73617422	G	T	73617422	3	4	14	1	0	0	0	0	1	0	0	0	6999	1203	42	3	1771	3	HCN4	15	73617422	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08	24457400	73617422	28913970	40	780											
PPL	5493	broad.mit.edu	37	16	4940197	4940197	+	Silent	SNP	C	C	T			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr16:4940197C>T	ENST00000345988.2	-	18	2390	c.2301G>A	c.(2299-2301)ctG>ctA	p.L767L	PPL_ENST00000590782.2_Silent_p.L765L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	767					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L767L(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTGGTTCTTCAGCTTGGTCT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	16											153	116	129					16																	4940197		2197	4300	6497	4880198	SO:0001819	synonymous_variant	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2301G>A	16.37:g.4940197C>T			4880198	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.597	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		T	4940197	C	T	4940197	2	4	14	1	0	0	0	0	0	0	0	1	12337	813	29	2		2	PPL	16	4940197	Silent	SNP	C	TCGA-04-1356-01A-01W-0492-08		4940197	85414556	41	781											
DCUN1D3	123879	broad.mit.edu	37	16	20873513	20873513	+	Silent	SNP	A	A	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr16:20873513A>G	ENST00000324344.4	-	2	633	c.348T>C	c.(346-348)aaT>aaC	p.N116N	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.N116N	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	116	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)		p.N116N(1)		NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CACACAGGTCATTGCAAAAGC	0.493																																																1	Substitution - coding silent(1)	ovary(1)	16											144	116	125					16																	20873513		2201	4300	6501	20781014	SO:0001819	synonymous_variant	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.348T>C	16.37:g.20873513A>G			20781014	B3KVY4	Silent	SNP	ENST00000324344.4	37	CCDS10592.1																																																																																				0.493	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		G	20873513	A	G	20873513	2	3	14	1	0	0	0	0	0	0	0	1	4315	214	8	4		4	DCUN1D3	16	20873513	Silent	SNP	A	TCGA-04-1356-01A-01W-0492-08	15933316	20873513	69481240	42	782											
CNOT1	23019	broad.mit.edu	37	16	58576378	58576378	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr16:58576378G>C	ENST00000317147.5	-	32	4861	c.4529C>G	c.(4528-4530)aCt>aGt	p.T1510S	CNOT1_ENST00000569240.1_Missense_Mutation_p.T1505S|CNOT1_ENST00000245138.4_Missense_Mutation_p.T361S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1510	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.T1510S(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTCTACTGCAGTCTTCTGAAT	0.393																																																1	Substitution - Missense(1)	ovary(1)	16											170	185	180					16																	58576378		2198	4300	6498	57133879	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4529C>G	16.37:g.58576378G>C	ENSP00000320949:p.Thr1510Ser		57133879	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409902	0.62399	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.47177	0.85	5.56	5.56	0.83823	CCR4-Not complex, Not1 subunit, domain of unknown function DUF3819 (1);	0.101255	0.64402	D	0.000002	T	0.42154	0.1190	L	0.33137	0.985	0.80722	D	1	B;P;B	0.35077	0.209;0.483;0.427	B;B;B	0.36464	0.038;0.225;0.144	T	0.16512	-1.0400	10	0.24483	T	0.36	-34.8762	19.5451	0.95291	0.0:0.0:1.0:0.0	.	361;1510;1505	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	1510;361;1505	ENSP00000320949:T1510S	ENSP00000245138:T361S	T	-	2	0	CNOT1	57133879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.030000	0.88816	2.629000	0.89072	0.655000	0.94253	ACT		0.393	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		C	58576378	G	C	58576378	3	2	14	1	0	0	0	0	1	0	0	0	3617	1029	36	3	2673	3	CNOT1	16	58576378	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08	37702865	58576378	31778375	43	783											
DNAH17	8632	broad.mit.edu	37	17	76523057	76523057	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr17:76523057T>G	ENST00000585328.1	-	23	3644	c.3520A>C	c.(3520-3522)Aat>Cat	p.N1174H	DNAH17_ENST00000389840.5_Missense_Mutation_p.N1177H	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1177	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N1174H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTTGGTATTTGCCCAGTGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	17											28	28	28					17																	76523057		2024	4166	6190	74034652	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3520A>C	17.37:g.76523057T>G	ENSP00000465516:p.Asn1174His		74034652	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	12.03	1.814153	0.32053	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.23950	1.88	4.45	3.3	0.37823	.	.	.	.	.	T	0.34658	0.0905	L	0.60957	1.885	0.32167	N	0.582107	.	.	.	.	.	.	T	0.42515	-0.9447	7	0.46703	T	0.11	.	10.3363	0.43852	0.0:0.0:0.3094:0.6906	.	.	.	.	H	1174;1177	ENSP00000374490:N1177H	ENSP00000300671:N1174H	N	-	1	0	DNAH17	74034652	0.851000	0.29673	0.913000	0.36048	0.783000	0.44284	1.218000	0.32467	1.874000	0.54306	0.459000	0.35465	AAT		0.512	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		G	76523057	T	G	76523057	3	3	14	1	0	0	0	0	1	0	0	0	4601	1841	64	5	10095	5	DNAH17	17	76523057	Missense_Mutation	SNP	T	TCGA-04-1356-01A-01W-0492-08		76523057	4672153	44	784											
APLP1	333	broad.mit.edu	37	19	36370071	36370071	+	Silent	SNP	C	C	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr19:36370071C>G	ENST00000221891.4	+	16	2001	c.1809C>G	c.(1807-1809)ctC>ctG	p.L603L	APLP1_ENST00000586861.1_Silent_p.L596L|APLP1_ENST00000537454.2_Silent_p.L563L|RN7SL402P_ENST00000465059.1_RNA	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	602					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.L603L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCATGCTGCTCCTGCGCAGGA	0.647																																																1	Substitution - coding silent(1)	ovary(1)	19											58	59	59					19																	36370071		2203	4300	6503	41061911	SO:0001819	synonymous_variant	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1809C>G	19.37:g.36370071C>G			41061911	O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	CCDS32997.1																																																																																				0.647	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		G	36370071	C	G	36370071	2	3	14	1	0	0	0	0	0	0	0	1	778	842	30	3		3	APLP1	19	36370071	Silent	SNP	C	TCGA-04-1356-01A-01W-0492-08		36370071	22758912	45	785											
ZNF224	7767	broad.mit.edu	37	19	44610799	44610799	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr19:44610799C>G	ENST00000336976.6	+	6	740	c.486C>G	c.(484-486)caC>caG	p.H162Q	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	162			H -> L (in dbSNP:rs4239529). {ECO:0000269|PubMed:10585455, ECO:0000269|PubMed:12239212, ECO:0000269|PubMed:15489334}.		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H162Q(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				ATGTCTCCCACTTTGATTTTC	0.418																																																1	Substitution - Missense(1)	ovary(1)	19											100	99	99					19																	44610799		2203	4300	6503	49302639	SO:0001583	missense	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.486C>G	19.37:g.44610799C>G	ENSP00000337368:p.His162Gln		49302639	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	1.943	-0.443117	0.04604	.	.	ENSG00000186019	ENST00000336976	T	0.15256	2.44	2.66	-2.06	0.07298	.	.	.	.	.	T	0.09024	0.0223	N	0.21324	0.655	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.36915	-0.9728	9	0.27082	T	0.32	.	4.667	0.12671	0.0:0.5224:0.165:0.3126	.	162	Q9NZL3	ZN224_HUMAN	Q	162	ENSP00000337368:H162Q	ENSP00000337368:H162Q	H	+	3	2	ZNF224	49302639	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-2.346000	0.01096	-0.350000	0.08262	0.591000	0.81541	CAC		0.418	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		G	44610799	C	G	44610799	3	3	14	1	0	0	0	0	1	0	0	0	17778	564	20	3	500	3	ZNF224	19	44610799	Missense_Mutation	SNP	C	TCGA-04-1356-01A-01W-0492-08	8240728	44610799	14518184	46	786											
ARHGAP35	2909	broad.mit.edu	37	19	47423944	47423944	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr19:47423944T>A	ENST00000404338.3	+	1	2012	c.2012T>A	c.(2011-2013)cTa>cAa	p.L671Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	671					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.L671Q(1)									AAGGAATCGCTATCCTATGTA	0.473																																																1	Substitution - Missense(1)	ovary(1)	19											36	37	37					19																	47423944		1909	4133	6042	52115784	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2012T>A	19.37:g.47423944T>A	ENSP00000385720:p.Leu671Gln		52115784	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512282	0.44660	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.16196	2.36	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	M	0.76328	2.33	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.39165	-0.9627	10	0.87932	D	0	-18.7632	15.27	0.73693	0.0:0.0:0.0:1.0	.	671	Q9NRY4-2	.	Q	671	ENSP00000385720:L671Q	ENSP00000324820:L671Q	L	+	2	0	ARHGAP35	52115784	1.000000	0.71417	0.026000	0.17262	0.273000	0.26683	8.009000	0.88606	2.248000	0.74166	0.528000	0.53228	CTA		0.473	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47423944	T	A	47423944	3	1	14	1	0	0	0	0	1	0	0	0	6795	1522	53	5	2014	5	ARHGAP35	19	47423944	Missense_Mutation	SNP	T	TCGA-04-1356-01A-01W-0492-08	2813145	47423944	11705039	47	787											
SEL1L2	80343	broad.mit.edu	37	20	13867034	13867034	+	Missense_Mutation	SNP	G	G	A	rs139504161	byFrequency	TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chr20:13867034G>A	ENST00000284951.5	-	9	874	c.800C>T	c.(799-801)aCg>aTg	p.T267M	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.T267M			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	267						integral component of membrane (GO:0016021)		p.T267M(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGGTCTTTCCGTTAGTCTCAC	0.373													G|||	2	0.000399361	0	0	5008	,	,		17036	0		0.002	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	20											131	120	123					20																	13867034		1837	4095	5932	13815034	SO:0001583	missense	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.800C>T	20.37:g.13867034G>A	ENSP00000284951:p.Thr267Met		13815034	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.81	3.895768	0.72639	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.24908	1.83;2.17	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000003	T	0.33177	0.0854	N	0.22421	0.69	0.41574	D	0.988708	P;D	0.89917	0.734;1.0	B;P	0.60609	0.115;0.877	T	0.02333	-1.1175	10	0.33940	T	0.23	-15.1749	15.5171	0.75833	0.0:0.0:1.0:0.0	.	267;267	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	M	267	ENSP00000367312:T267M;ENSP00000284951:T267M	ENSP00000284951:T267M	T	-	2	0	SEL1L2	13815034	0.994000	0.37717	1.000000	0.80357	0.953000	0.61014	2.855000	0.48333	2.732000	0.93576	0.555000	0.69702	ACG		0.373	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		A	13867034	G	A	13867034	3	1	14	1	0	0	0	0	1	0	0	0	14014	1145	40	1	1314	1	SEL1L2	20	13867034	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08		13867034	49158486	48	788											
SCML1	6322	broad.mit.edu	37	X	17768147	17768147	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chrX:17768147G>A	ENST00000380041.3	+	6	765	c.437G>A	c.(436-438)cGt>cAt	p.R146H	SCML1_ENST00000380045.3_Missense_Mutation_p.R25H|SCML1_ENST00000398080.1_Missense_Mutation_p.R25H|SCML1_ENST00000380043.3_Missense_Mutation_p.R119H	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	146					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R25H(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					GTGTCAAGGCGTGAGAATAAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	X											106	96	100					X																	17768147		2203	4300	6503	17678068	SO:0001583	missense	6322				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"Sterile alpha motif (SAM) domain containing"	10580	protein-coding gene	gene with protein product		300227	"sex comb on midleg (Drosophila)-like 1"			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.437G>A	X.37:g.17768147G>A	ENSP00000369380:p.Arg146His		17678068	B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	ENST00000380041.3	37	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017745	0.19355	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080;ENST00000419185	.	.	.	3.36	-6.38	0.01957	.	1.186530	0.06384	N	0.715715	T	0.31513	0.0799	N	0.24115	0.695	0.09310	N	1	D;D	0.76494	0.999;0.998	P;P	0.59487	0.858;0.725	T	0.20207	-1.0282	9	0.15499	T	0.54	-0.4142	6.851	0.24014	0.2621:0.3336:0.4043:0.0	.	119;146	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	H	25;146;119;25;119	.	ENSP00000369380:R146H	R	+	2	0	SCML1	17678068	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.248000	0.01189	-1.837000	0.01189	0.600000	0.82982	CGT		0.483	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		A	17768147	G	A	17768147	3	1	14	1	0	0	0	0	1	0	0	0	13912	1145	40	1	458	1	SCML1	23	17768147	Missense_Mutation	SNP	G	TCGA-04-1356-01A-01W-0492-08		17768147	137502413	49	789											
DRP2	1821	broad.mit.edu	37	X	100493999	100493999	+	Silent	SNP	C	C	T			TCGA-04-1356-01A-01W-0492-08	TCGA-04-1356-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2582c67b-68ca-41f6-aa16-f11bfad6aef3	f76d625e-f485-45d5-9734-5b8cef83243a	g.chrX:100493999C>T	ENST00000395209.3	+	6	995	c.468C>T	c.(466-468)ggC>ggT	p.G156G	DRP2_ENST00000538510.1_Silent_p.G156G|DRP2_ENST00000402866.1_Silent_p.G156G|DRP2_ENST00000541709.1_Silent_p.G78G	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	156				G -> A (in Ref. 1; AAC50538). {ECO:0000305}.	central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A153A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGTCTCGGGGCCCCTACATCT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	X											131	117	122					X																	100493999		2203	4300	6503	100380655	SO:0001819	synonymous_variant	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.468C>T	X.37:g.100493999C>T			100380655	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	CCDS14480.2																																																																																				0.458	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		T	100493999	C	T	100493999	2	4	14	1	0	0	0	0	0	0	0	1	4764	726	26	2		2	DRP2	23	100493999	Silent	SNP	C	TCGA-04-1356-01A-01W-0492-08	82725852	100493999	54776561	50	790											
ASH1L	55870	broad.mit.edu	37	1	155452077	155452077	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr1:155452077G>A	ENST00000368346.3	-	3	1223	c.584C>T	c.(583-585)aCt>aTt	p.T195I	ASH1L_ENST00000392403.3_Missense_Mutation_p.T195I|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	195					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T195I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACCAAGAAGAGTAGATGGCGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											147	147	147					1																	155452077		2203	4300	6503	153718701	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.584C>T	1.37:g.155452077G>A	ENSP00000357330:p.Thr195Ile		153718701	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	15.47	2.842374	0.51057	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90197	-2.63;-2.63	3.9	3.9	0.45041	.	0.487586	0.18571	N	0.137357	T	0.76407	0.3983	N	0.14661	0.345	0.80722	D	1	P;P	0.41131	0.622;0.739	B;B	0.38194	0.137;0.267	T	0.82216	-0.0567	10	0.66056	D	0.02	.	13.8348	0.63402	0.0:0.0:1.0:0.0	.	195;195	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	I	195	ENSP00000357330:T195I;ENSP00000376204:T195I	ENSP00000357330:T195I	T	-	2	0	ASH1L	153718701	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	5.133000	0.64764	2.021000	0.59480	0.563000	0.77884	ACT		0.428	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		A	155452077	G	A	155452077	3	1	15	1	0	0	0	0	1	0	0	0	1041	1029	36	2	8414	2	ASH1L	1	155452077	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08		155452077	93798544	1	791											
SEC16B	89866	broad.mit.edu	37	1	177901866	177901866	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr1:177901866G>C	ENST00000308284.6	-	23	2988	c.2899C>G	c.(2899-2901)Ctg>Gtg	p.L967V	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	967					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.L968V(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACATCCGGCAGAGGTGGGGAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											39	46	44					1																	177901866		2005	4162	6167	176168489	SO:0001583	missense	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2899C>G	1.37:g.177901866G>C	ENSP00000308339:p.Leu967Val		176168489	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121449	0.37436	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.14516	2.5	4.47	3.53	0.40419	.	0.826655	0.10545	N	0.662199	T	0.29652	0.0740	L	0.57536	1.79	0.29487	N	0.855928	D;B;D	0.63880	0.993;0.192;0.993	D;B;D	0.76071	0.987;0.044;0.967	T	0.07770	-1.0755	10	0.15066	T	0.55	-6.0109	10.4518	0.44526	0.0:0.1977:0.8023:0.0	.	968;967;664	B1AM08;Q96JE7;Q96PW0	.;SC16B_HUMAN;.	V	967;652;683	ENSP00000308339:L967V	ENSP00000239472:L683V	L	-	1	2	AL359075.1	176168489	0.082000	0.21442	0.338000	0.25549	0.014000	0.08584	1.599000	0.36751	1.193000	0.43086	0.467000	0.42956	CTG		0.627	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		C	177901866	G	C	177901866	3	2	15	1	0	0	0	0	1	0	0	0	13990	933	33	3	299	3	SEC16B	1	177901866	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08	22449789	177901866	71348755	2	792											
PPP1R12B	4660	broad.mit.edu	37	1	202406995	202406995	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr1:202406995C>G	ENST00000608999.1	+	10	1454	c.1301C>G	c.(1300-1302)tCt>tGt	p.S434C	RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S434C|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.S434C	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	434					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.S434C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAAGATGAATCTCCTTCTTCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	1											69	69	69					1																	202406995		2203	4300	6503	200673618	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1301C>G	1.37:g.202406995C>G	ENSP00000476755:p.Ser434Cys		200673618	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638615	0.87760	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184	T;T;T	0.71103	0.91;0.92;-0.54	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000020	D	0.85877	0.5799	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.995	D	0.86912	0.2061	10	0.87932	D	0	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	434;434;434	O60237;F8W8M3;Q2TAI8	MYPT2_HUMAN;.;.	C	434	ENSP00000384496:S434C;ENSP00000337897:S434C;ENSP00000417159:S434C	ENSP00000337897:S434C	S	+	2	0	PPP1R12B	200673618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.204000	0.72143	2.686000	0.91538	0.650000	0.86243	TCT		0.438	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		G	202406995	C	G	202406995	3	3	15	1	0	0	0	0	1	0	0	0	12358	913	32	3	1339	3	PPP1R12B	1	202406995	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08	24505129	202406995	46843626	3	793											
PTPN14	5784	broad.mit.edu	37	1	214638126	214638126	+	Silent	SNP	G	G	A			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr1:214638126G>A	ENST00000366956.5	-	2	215	c.21C>T	c.(19-21)ctC>ctT	p.L7L	PTPN14_ENST00000543945.1_Silent_p.L7L	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	7					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.L7L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTGTCCGGCGGAGCTTCAGAC	0.587																																					Colon(92;557 1424 24372 34121 40073)											1	Substitution - coding silent(1)	ovary(1)	1											102	85	90					1																	214638126		2203	4300	6503	212704749	SO:0001819	synonymous_variant	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.21C>T	1.37:g.214638126G>A			212704749	Q5VSI0	Silent	SNP	ENST00000366956.5	37	CCDS1514.1																																																																																				0.587	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		A	214638126	G	A	214638126	2	1	15	1	0	0	0	0	0	0	0	1	12786	1161	41	2		2	PTPN14	1	214638126	Silent	SNP	G	TCGA-04-1357-01A-01W-0492-08	12231131	214638126	34612495	4	794											
VN1R5	317705	broad.mit.edu	37	1	247420260	247420260	+	IGR	SNP	T	T	C			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr1:247420260T>C								RP11-488L18.8 (15135 upstream) : Y_RNA (37876 downstream)																							GTGACATGGATAAATGATTCT	0.428																																																0			1											182	175	177					1																	247420260		1953	4146	6099	245486883	SO:0001628	intergenic_variant	317705																															1.37:g.247420260T>C			245486883		Missense_Mutation	SNP		37																																																																																				0	0.428									C	247420260	T	C	247420260	1	2	15	0	1	0	0	0	0	0	0	0	17181	1406	49	4		4	VN1R5	1	247420260	IGR	SNP	T	TCGA-04-1357-01A-01W-0492-08	32782134	247420260	1830361	5	795											
SLC16A14	151473	broad.mit.edu	37	2	230923815	230923815	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr2:230923815A>C	ENST00000295190.4	-	2	712	c.254T>G	c.(253-255)aTa>aGa	p.I85R	RNY4P19_ENST00000362530.1_RNA	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.I85R(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CATACCCACTATCAAGGTGAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	2											78	81	80					2																	230923815		2203	4300	6503	230632059	SO:0001583	missense	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.254T>G	2.37:g.230923815A>C	ENSP00000295190:p.Ile85Arg		230632059	A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445202	0.83993	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.61392	0.11;0.11;0.11	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.097786	0.44688	D	0.000428	T	0.76176	0.3951	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.986;0.996	T	0.77672	-0.2500	10	0.48119	T	0.1	.	15.5825	0.76455	1.0:0.0:0.0:0.0	.	85;85	E7EMG7;Q7RTX9	.;MOT14_HUMAN	R	85	ENSP00000295190:I85R;ENSP00000400352:I85R;ENSP00000395775:I85R	ENSP00000295190:I85R	I	-	2	0	SLC16A14	230632059	1.000000	0.71417	0.986000	0.45419	0.901000	0.52897	7.565000	0.82337	2.263000	0.75096	0.533000	0.62120	ATA		0.483	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		C	230923815	A	C	230923815	3	2	15	1	0	0	0	0	1	0	0	0	14410	449	16	5	1294	5	SLC16A14	2	230923815	Missense_Mutation	SNP	A	TCGA-04-1357-01A-01W-0492-08		230923815	12275558	6	796											
C3orf31	132001	broad.mit.edu	37	3	11851157	11851157	+	Splice_Site	SNP	C	C	G			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr3:11851157C>G	ENST00000444133.2	-	6	851		c.e6-1		TAMM41_ENST00000455809.1_Splice_Site|TAMM41_ENST00000273037.5_Splice_Site			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)						cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										TTTTATCTATCTGAAGGGAGG	0.378																																																0			3											109	108	108					3																	11851157		2203	4300	6503	11826157	SO:0001630	splice_region_variant	132001				CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"chromosome 3 open reading frame 31"	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.709-1G>C	3.37:g.11851157C>G			11826157	B4DIY7|C9J2U4	Splice_Site	SNP	ENST00000444133.2	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.028938	0.75504	.	.	ENSG00000144559	ENST00000455809;ENST00000273037;ENST00000444133	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0696	0.89402	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAMM41	11826157	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	7.556000	0.82233	2.495000	0.84180	0.557000	0.71058	.		0.378	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807	Intron	G	11851157	C	G	11851157	5	3	15	1	0	0	0	0	0	0	1	0	2221	927	32	3	250	3	C3orf31	3	11851157	Splice_Site	SNP	C	TCGA-04-1357-01A-01W-0492-08		11851157	186171273	7	797											
CACNA1D	776	broad.mit.edu	37	3	53531457	53531457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr3:53531457C>T	ENST00000350061.5	+	2	857	c.346C>T	c.(346-348)Cga>Tga	p.R116*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.R116*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.R116*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	116					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.R116*(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAACCCCATCCGAAGAGCCTG	0.423																																																1	Substitution - Nonsense(1)	ovary(1)	3											92	105	100					3																	53531457		2203	4300	6503	53506497	SO:0001587	stop_gained	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.346C>T	3.37:g.53531457C>T	ENSP00000288133:p.Arg116*		53506497	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	39	7.911234	0.98557	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	.	.	.	5.83	5.83	0.93111	.	0.000000	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1166	0.97939	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000288139:R116X	R	+	1	2	CACNA1D	53506497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.743000	0.62110	2.758000	0.94735	0.655000	0.94253	CGA		0.423	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53531457	C	T	53531457	4	4	15	1	0	0	0	0	0	1	0	0	2541	644	23	1	352	1	CACNA1D	3	53531457	Nonsense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08	41680300	53531457	144490973	8	798											
GFM1	85476	broad.mit.edu	37	3	158376728	158376728	+	Silent	SNP	A	A	G			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr3:158376728A>G	ENST00000486715.1	+	9	1458	c.1101A>G	c.(1099-1101)caA>caG	p.Q367Q	GFM1_ENST00000264263.5_Silent_p.Q386Q|GFM1_ENST00000478576.1_Silent_p.Q367Q	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.Q367Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GATTTGGACAATTAACTTATG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	3											114	103	107					3																	158376728		2203	4300	6503	159859422	SO:0001819	synonymous_variant	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1101A>G	3.37:g.158376728A>G			159859422		Silent	SNP	ENST00000486715.1	37	CCDS33885.1																																																																																				0.408	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		G	158376728	A	G	158376728	2	3	15	1	0	0	0	0	0	0	0	1	6341	98	4	4		4	GFM1	3	158376728	Silent	SNP	A	TCGA-04-1357-01A-01W-0492-08	104845271	158376728	39645702	9	799											
YEATS2	55689	broad.mit.edu	37	3	183442221	183442221	+	Silent	SNP	T	T	A			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr3:183442221T>A	ENST00000305135.5	+	6	747	c.552T>A	c.(550-552)atT>atA	p.I184I		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	184			I -> V (in dbSNP:rs16858033).		chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.I184I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTTCTAGAATTACTGGCTCCC	0.343																																																1	Substitution - coding silent(1)	ovary(1)	3											85	79	81					3																	183442221		1823	4087	5910	184924915	SO:0001819	synonymous_variant	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.552T>A	3.37:g.183442221T>A			184924915	A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	CCDS43175.1																																																																																				0.343	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		A	183442221	T	A	183442221	2	1	15	1	0	0	0	0	0	0	0	1	17472	1742	61	5		5	YEATS2	3	183442221	Silent	SNP	T	TCGA-04-1357-01A-01W-0492-08	25065493	183442221	14580209	10	800											
BMP3	651	broad.mit.edu	37	4	81967253	81967253	+	Silent	SNP	C	C	T			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr4:81967253C>T	ENST00000282701.2	+	2	998	c.678C>T	c.(676-678)cgC>cgT	p.R226R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	226					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.R226R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCAAGGGACGCCAGCTGCCAA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	4											117	123	121					4																	81967253		2203	4300	6503	82186277	SO:0001819	synonymous_variant	651			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.678C>T	4.37:g.81967253C>T			82186277	Q4VAS5	Silent	SNP	ENST00000282701.2	37	CCDS3588.1																																																																																				0.433	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			T	81967253	C	T	81967253	2	4	15	1	0	0	0	0	0	0	0	1	1461	726	26	2		2	BMP3	4	81967253	Silent	SNP	C	TCGA-04-1357-01A-01W-0492-08		81967253	109187023	11	801											
APC	324	broad.mit.edu	37	5	112170682	112170682	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr5:112170682G>T	ENST00000457016.1	+	15	2158	c.1778G>T	c.(1777-1779)tGg>tTg	p.W593L	APC_ENST00000257430.4_Missense_Mutation_p.W593L|APC_ENST00000508376.2_Missense_Mutation_p.W593L|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	593	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.W593L(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTGCCTTATGGAATTTGTCA	0.393		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Substitution - Missense(1)|Unknown(1)	ovary(1)|skin(1)	5	GRCh37	CM970084	APC	M							183	152	162					5																	112170682		2202	4300	6502	112198581	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1778G>T	5.37:g.112170682G>T	ENSP00000413133:p.Trp593Leu		112198581	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419527	0.96111	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84959	0.0876	10	0.87932	D	0	-5.4199	20.3409	0.98764	0.0:0.0:1.0:0.0	.	595;593	Q4LE70;P25054	.;APC_HUMAN	L	593;575;593;593;593	ENSP00000413133:W593L;ENSP00000423224:W575L;ENSP00000257430:W593L;ENSP00000427089:W593L;ENSP00000423828:W593L	ENSP00000257430:W593L	W	+	2	0	APC	112198581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	TGG		0.393	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		T	112170682	G	T	112170682	3	4	15	1	0	0	0	0	1	0	0	0	763	1357	47	3	1832	3	APC	5	112170682	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08		112170682	68744578	12	802											
HARS	3035	broad.mit.edu	37	5	140054614	140054614	+	Silent	SNP	A	A	G			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr5:140054614A>G	ENST00000504156.1	-	11	2018	c.1299T>C	c.(1297-1299)gaT>gaC	p.D433D	HARS_ENST00000438307.2_Silent_p.D393D|HARS_ENST00000448240.1_Silent_p.D238D|HARS_ENST00000431330.2_Silent_p.D319D|HARS_ENST00000307633.3_Silent_p.D373D|HARS_ENST00000415192.2_Silent_p.D359D|HARS_ENST00000504366.1_Silent_p.D364D|DND1_ENST00000542735.1_5'Flank|HARS_ENST00000457527.2_Silent_p.D413D	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	433					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)	p.D433D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TGATCCCAGCATCCCACAGTT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	5											149	135	139					5																	140054614		2203	4300	6503	140034798	SO:0001819	synonymous_variant	3035			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1299T>C	5.37:g.140054614A>G			140034798	B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	ENST00000504156.1	37	CCDS4237.1																																																																																				0.512	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		G	140054614	A	G	140054614	2	3	15	1	0	0	0	0	0	0	0	1	6959	214	8	4		4	HARS	5	140054614	Silent	SNP	A	TCGA-04-1357-01A-01W-0492-08	27883932	140054614	40860646	13	803											
KCTD20	222658	broad.mit.edu	37	6	36449518	36449518	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr6:36449518G>C	ENST00000373731.2	+	6	1229	c.838G>C	c.(838-840)Ggg>Cgg	p.G280R	KCTD20_ENST00000449081.2_Missense_Mutation_p.G114R|KCTD20_ENST00000544295.1_Missense_Mutation_p.G34R|KCTD20_ENST00000536244.1_Missense_Mutation_p.G135R|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	280					protein homooligomerization (GO:0051260)			p.G280R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TCCACCAATGGGGGAGGAATA	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											92	84	87					6																	36449518		2203	4300	6503	36557496	SO:0001583	missense	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.838G>C	6.37:g.36449518G>C	ENSP00000362836:p.Gly280Arg		36557496	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375369	0.95923	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87888	0.2682	10	0.87932	D	0	-22.7238	20.5827	0.99408	0.0:0.0:1.0:0.0	.	114;280	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	R	280;34;114;135	ENSP00000362836:G280R;ENSP00000440150:G34R;ENSP00000412205:G114R;ENSP00000439118:G135R	ENSP00000362836:G280R	G	+	1	0	KCTD20	36557496	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GGG		0.507	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		C	36449518	G	C	36449518	3	2	15	1	0	0	0	0	1	0	0	0	8108	1232	43	3	856	3	KCTD20	6	36449518	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08		36449518	134665549	14	804											
SYNCRIP	10492	broad.mit.edu	37	6	86324940	86324940	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr6:86324940T>C	ENST00000369622.3	-	11	1906	c.1406A>G	c.(1405-1407)tAt>tGt	p.Y469C	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.Y469C|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.I5V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	469	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y469C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATAACCATAATAATCATAATA	0.418																																																1	Substitution - Missense(1)	ovary(1)	6											28	28	28					6																	86324940		2202	4292	6494	86381659	SO:0001583	missense	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1406A>G	6.37:g.86324940T>C	ENSP00000358635:p.Tyr469Cys		86381659	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	T	9.796	1.179219	0.21787	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.32023	1.48;1.47	5.4	5.4	0.78164	.	0.056031	0.64402	D	0.000001	T	0.33990	0.0882	M	0.81942	2.565	0.58432	D	0.999991	P;D;P;P;D;D;P	0.54964	0.947;0.969;0.859;0.949;0.969;0.969;0.947	B;P;B;P;P;P;B	0.47162	0.237;0.54;0.339;0.54;0.54;0.54;0.339	T	0.39583	-0.9607	10	0.59425	D	0.04	.	15.4275	0.75065	0.0:0.0:0.0:1.0	.	469;434;371;317;434;469;469	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	C	469	ENSP00000347380:Y469C;ENSP00000358635:Y469C	ENSP00000347380:Y469C	Y	-	2	0	SYNCRIP	86381659	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.217000	0.72218	2.045000	0.60652	0.460000	0.39030	TAT		0.418	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		C	86324940	T	C	86324940	3	2	15	1	0	0	0	0	1	0	0	0	15444	1406	49	4	515	4	SYNCRIP	6	86324940	Missense_Mutation	SNP	T	TCGA-04-1357-01A-01W-0492-08	49875422	86324940	84790127	15	805											
ALDH8A1	64577	broad.mit.edu	37	6	135253943	135253943	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr6:135253943C>G	ENST00000265605.2	-	5	888	c.820G>C	c.(820-822)Gca>Cca	p.A274P	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.A274P|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A224P	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	274					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.A274P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CTGACGGTTGCCGGAATGCAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											89	88	88					6																	135253943		2203	4300	6503	135295636	SO:0001583	missense	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.820G>C	6.37:g.135253943C>G	ENSP00000265605:p.Ala274Pro		135295636	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	8.726	0.915504	0.17907	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.78246	-1.16;-1.16;-1.16	5.3	-1.1	0.09872	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.244890	0.47455	D	0.000233	T	0.57666	0.2069	M	0.62088	1.915	0.25616	N	0.986444	B;B;B	0.30634	0.288;0.244;0.288	B;B;B	0.37480	0.251;0.162;0.251	T	0.58457	-0.7633	10	0.59425	D	0.04	.	6.7228	0.23340	0.0:0.2307:0.1324:0.6369	.	224;274;274	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	P	274;274;224	ENSP00000265605:A274P;ENSP00000356819:A274P;ENSP00000356821:A224P	ENSP00000265605:A274P	A	-	1	0	ALDH8A1	135295636	0.946000	0.32159	0.000000	0.03702	0.003000	0.03518	1.673000	0.37534	-0.100000	0.12241	-1.109000	0.02080	GCA		0.582	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			G	135253943	C	G	135253943	3	3	15	1	0	0	0	0	1	0	0	0	505	739	26	3	655	3	ALDH8A1	6	135253943	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08	48929003	135253943	35861124	16	806											
AKAP12	9590	broad.mit.edu	37	6	151673288	151673288	+	Silent	SNP	T	T	G	rs142243463	byFrequency	TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr6:151673288T>G	ENST00000253332.1	+	3	3951	c.3762T>G	c.(3760-3762)acT>acG	p.T1254T	AKAP12_ENST00000354675.6_Silent_p.T1156T|AKAP12_ENST00000402676.2_Silent_p.T1254T|AKAP12_ENST00000359755.5_Silent_p.T1149T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1254					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.T1254T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGTGGAAACTGTATCCATTC	0.438																																					Melanoma(141;1616 1805 10049 24534 51979)											1	Substitution - coding silent(1)	ovary(1)	6											73	68	69					6																	151673288		2203	4300	6503	151714981	SO:0001819	synonymous_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3762T>G	6.37:g.151673288T>G			151714981	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.438	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			G	151673288	T	G	151673288	2	3	15	1	0	0	0	0	0	0	0	1	448	1567	55	5		5	AKAP12	6	151673288	Silent	SNP	T	TCGA-04-1357-01A-01W-0492-08	16419345	151673288	19441779	17	807											
ADCY1	107	broad.mit.edu	37	7	45697379	45697379	+	Missense_Mutation	SNP	C	C	T	rs566259707		TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr7:45697379C>T	ENST00000297323.7	+	6	1224	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	ADCY1_ENST00000432715.1_Missense_Mutation_p.T176M	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	401					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.T401M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTCTGCACACGGGCAGGGTC	0.597													C|||	1	0.000199681	0	0	5008	,	,		18993	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7											121	90	100					7																	45697379		2203	4300	6503	45663904	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1202C>T	7.37:g.45697379C>T	ENSP00000297323:p.Thr401Met		45663904	A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516560	0.85495	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.86497	-2.13;-2.13	4.44	4.44	0.53790	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.93200	0.7834	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.71870	0.881;0.975	D	0.94018	0.7290	10	0.72032	D	0.01	.	14.9371	0.70964	0.0:1.0:0.0:0.0	.	401;176	Q08828;C9J1J0	ADCY1_HUMAN;.	M	176;401;401	ENSP00000392721:T176M;ENSP00000297323:T401M	ENSP00000297323:T401M	T	+	2	0	ADCY1	45663904	0.999000	0.42202	0.998000	0.56505	0.999000	0.98932	4.269000	0.58890	2.446000	0.82766	0.655000	0.94253	ACG		0.597	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		T	45697379	C	T	45697379	3	4	15	1	0	0	0	0	1	0	0	0	292	536	19	1	1224	1	ADCY1	7	45697379	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08		45697379	113441284	18	808											
PMPCB	9512	broad.mit.edu	37	7	102949405	102949405	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr7:102949405G>C	ENST00000249269.4	+	8	894	c.856G>C	c.(856-858)Gtg>Ctg	p.V286L	PMPCB_ENST00000420236.2_Missense_Mutation_p.V181L|PMPCB_ENST00000428154.1_Missense_Mutation_p.V286L	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	286					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.V286L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTAGATTCGTGTGAGGGATGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											143	124	131					7																	102949405		2203	4300	6503	102736641	SO:0001583	missense	9512			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.856G>C	7.37:g.102949405G>C	ENSP00000249269:p.Val286Leu		102736641	O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	6.596	0.478379	0.12521	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.29917	1.55;1.55;1.55	5.35	3.55	0.40652	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.113396	0.64402	D	0.000014	T	0.24431	0.0592	L	0.35644	1.08	0.58432	D	0.999999	B;B;B;B;B;P	0.39717	0.023;0.02;0.372;0.099;0.099;0.684	B;B;B;B;B;B	0.42188	0.033;0.042;0.213;0.213;0.213;0.379	T	0.02371	-1.1169	10	0.14656	T	0.56	.	10.0496	0.42208	0.2349:0.0:0.7651:0.0	.	181;181;286;277;286;286	E7ERZ4;B4DM90;A8K1E9;Q96CP5;O75439;G3V0E4	.;.;.;.;MPPB_HUMAN;.	L	286;286;181	ENSP00000249269:V286L;ENSP00000390035:V286L;ENSP00000410393:V181L	ENSP00000249269:V286L	V	+	1	0	PMPCB	102736641	0.994000	0.37717	0.978000	0.43139	0.824000	0.46624	2.206000	0.42779	0.750000	0.32877	-0.143000	0.13931	GTG		0.413	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		C	102949405	G	C	102949405	3	2	15	1	0	0	0	0	1	0	0	0	12141	1377	48	3	886	3	PMPCB	7	102949405	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08	57252026	102949405	56189258	19	809											
ARMC4	55130	broad.mit.edu	37	10	28149706	28149706	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr10:28149706C>G	ENST00000305242.5	-	19	2961	c.2869G>C	c.(2869-2871)Gtg>Ctg	p.V957L	ARMC4_ENST00000537576.1_Missense_Mutation_p.V649L|ARMC4_ENST00000545014.1_Missense_Mutation_p.V482L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	957					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.V957L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCGAAGGCCACTCTATTCCTG	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											180	146	157					10																	28149706		2203	4300	6503	28189712	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2869G>C	10.37:g.28149706C>G	ENSP00000306410:p.Val957Leu		28189712	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030220	0.35797	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.93763	-3.28;-3.28;-0.14	5.45	4.31	0.51392	Armadillo-like helical (1);Armadillo-type fold (1);	0.195809	0.43747	D	0.000525	D	0.91791	0.7403	M	0.68952	2.095	0.80722	D	1	B;P	0.37276	0.257;0.589	B;B	0.38921	0.14;0.285	D	0.90921	0.4783	10	0.41790	T	0.15	-25.6472	12.916	0.58207	0.0:0.8888:0.0:0.1112	.	482;957	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	L	649;957;482	ENSP00000443208:V649L;ENSP00000306410:V957L;ENSP00000441076:V482L	ENSP00000306410:V957L	V	-	1	0	ARMC4	28189712	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.982000	0.49337	2.711000	0.92665	0.655000	0.94253	GTG		0.468	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		G	28149706	C	G	28149706	3	3	15	1	0	0	0	0	1	0	0	0	953	565	20	3	273	3	ARMC4	10	28149706	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08		28149706	107385041	20	810											
OR52N4	390072	broad.mit.edu	37	11	5776083	5776083	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr11:5776083T>A	ENST00000317254.3	+	1	161	c.113T>A	c.(112-114)gTt>gAt	p.V38D	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V38A(1)|p.V38D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCTATGTATGTTGTGGCTATG	0.438																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	11											151	148	149					11																	5776083		2008	4203	6211	5732659	SO:0001583	missense	390072			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.113T>A	11.37:g.5776083T>A	ENSP00000323224:p.Val38Asp		5732659	B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604375	0.46423	.	.	ENSG00000181074	ENST00000317254	T	0.03152	4.03	5.74	2.03	0.26663	.	0.539113	0.15409	N	0.263872	T	0.09642	0.0237	M	0.87682	2.9	0.23510	N	0.997526	B	0.28378	0.209	B	0.34652	0.187	T	0.09552	-1.0669	10	0.87932	D	0	.	9.3013	0.37847	0.0:0.2126:0.0:0.7874	.	38	Q8NGI2	O52N4_HUMAN	D	38	ENSP00000323224:V38D	ENSP00000323224:V38D	V	+	2	0	OR52N4	5732659	0.000000	0.05858	0.994000	0.49952	0.988000	0.76386	0.160000	0.16462	0.090000	0.17273	0.451000	0.29950	GTT		0.438	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		A	5776083	T	A	5776083	3	1	15	1	0	0	0	0	1	0	0	0	11129	1725	60	5	115	5	OR52N4	11	5776083	Missense_Mutation	SNP	T	TCGA-04-1357-01A-01W-0492-08		5776083	129230433	21	811											
OR5W2	390148	broad.mit.edu	37	11	55681278	55681278	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr11:55681278G>A	ENST00000344514.1	-	1	780	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAACTTGGCCGGAAATACATA	0.443																																					Melanoma(48;171 1190 15239 43886 49348)											2	Substitution - Missense(2)	ovary(1)|prostate(1)	11											80	92	88					11																	55681278		2201	4296	6497	55437854	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.781C>T	11.37:g.55681278G>A	ENSP00000342448:p.Arg261Trp		55437854		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104592	0.56291	.	.	ENSG00000187612	ENST00000344514	T	0.37915	1.17	5.01	-7.18	0.01505	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	N	0.002753	T	0.34337	0.0894	M	0.83852	2.665	0.09310	N	1	P	0.43024	0.798	P	0.44990	0.466	T	0.17745	-1.0359	10	0.72032	D	0.01	.	3.6052	0.08039	0.1349:0.0833:0.2308:0.5509	.	261	Q8NH69	OR5W2_HUMAN	W	261	ENSP00000342448:R261W	ENSP00000342448:R261W	R	-	1	2	OR5W2	55437854	0.000000	0.05858	0.028000	0.17463	0.903000	0.53119	-1.242000	0.02908	-1.391000	0.02085	0.549000	0.68633	CGG		0.443	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		A	55681278	G	A	55681278	3	1	15	1	0	0	0	0	1	0	0	0	11185	1115	39	1	153	1	OR5W2	11	55681278	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08	49905195	55681278	79325238	22	812											
FOLR2	2350	broad.mit.edu	37	11	71932638	71932638	+	Missense_Mutation	SNP	C	C	A	rs138209906		TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr11:71932638C>A	ENST00000298223.6	+	5	787	c.600C>A	c.(598-600)agC>agA	p.S200R	FOLR2_ENST00000454954.2_Missense_Mutation_p.S159R|FOLR2_ENST00000449475.2_Missense_Mutation_p.S196R	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	200					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)	p.S200R(1)|p.S200S(1)		breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GCCGAGGGAGCGGCCGCTGCA	0.572																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|breast(1)	11											93	94	94					11																	71932638		2200	4293	6493	71610286	SO:0001583	missense	2350			AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.600C>A	11.37:g.71932638C>A	ENSP00000298223:p.Ser200Arg		71610286	Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	CCDS8212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.77|16.77	3.214088|3.214088	0.58452|0.58452	.|.	.|.	ENSG00000165457|ENSG00000165457	ENST00000413873|ENST00000449475;ENST00000298223;ENST00000454954	.|T;T;T	.|0.78816	.|-1.21;-1.21;-1.21	4.58|4.58	-9.13|-9.13	0.00704|0.00704	.|Folate receptor-like (1);	.|0.141225	.|0.48286	.|U	.|0.000183	D|D	0.84800|0.84800	0.5552|0.5552	M|M	0.92649|0.92649	3.33|3.33	0.25978|0.25978	N|N	0.982413|0.982413	.|D	.|0.76494	.|0.999	.|D	.|0.81914	.|0.995	T|T	0.78181|0.78181	-0.2304|-0.2304	6|10	0.87932|0.72032	D|D	0|0.01	.|.	6.7188|6.7188	0.23318|0.23318	0.1092:0.5845:0.1106:0.1957|0.1092:0.5845:0.1106:0.1957	.|.	.|200	.|P14207	.|FOLR2_HUMAN	E|R	214|196;200;159	.|ENSP00000405638:S196R;ENSP00000298223:S200R;ENSP00000414094:S159R	ENSP00000412980:A214E|ENSP00000298223:S200R	A|S	+|+	2|3	0|2	FOLR2|FOLR2	71610286|71610286	0.000000|0.000000	0.05858|0.05858	0.182000|0.182000	0.23118|0.23118	0.945000|0.945000	0.59286|0.59286	-4.433000|-4.433000	0.00235|0.00235	-2.021000|-2.021000	0.00939|0.00939	0.462000|0.462000	0.41574|0.41574	GCG|AGC		0.572	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		A	71932638	C	A	71932638	3	1	15	1	0	0	0	0	1	0	0	0	5982	767	27	3	614	3	FOLR2	11	71932638	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08	16251360	71932638	63073878	23	813											
ANKRD52	283373	broad.mit.edu	37	12	56647988	56647988	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr12:56647988C>G	ENST00000267116.7	-	8	890	c.769G>C	c.(769-771)Gag>Cag	p.E257Q		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	257								p.E257Q(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTCACCAGCTCAATAGCCACA	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											151	170	164					12																	56647988		2118	4248	6366	54934255	SO:0001583	missense	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.769G>C	12.37:g.56647988C>G	ENSP00000267116:p.Glu257Gln		54934255	A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332882	0.95758	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	D	0.83419	-1.72	4.59	4.59	0.56863	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	N	0.17278	0.47	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84303	0.0506	10	0.38643	T	0.18	.	16.7094	0.85381	0.0:1.0:0.0:0.0	.	257	Q8NB46	ANR52_HUMAN	Q	257	ENSP00000267116:E257Q	ENSP00000267116:E257Q	E	-	1	0	ANKRD52	54934255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.548000	0.85928	0.591000	0.81541	GAG		0.542	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		G	56647988	C	G	56647988	3	3	15	1	0	0	0	0	1	0	0	0	678	835	29	3	2545	3	ANKRD52	12	56647988	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08		56647988	77203907	24	814											
GCN1L1	10985	broad.mit.edu	37	12	120600702	120600702	+	Silent	SNP	C	C	T			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr12:120600702C>T	ENST00000300648.6	-	20	2124	c.2112G>A	c.(2110-2112)agG>agA	p.R704R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	704					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.R704R(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATCCAGGTGCCTGGTGATAA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	12											92	90	91					12																	120600702		1991	4155	6146	119085085	SO:0001819	synonymous_variant	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2112G>A	12.37:g.120600702C>T			119085085	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																				0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120600702	C	T	120600702	2	4	15	1	0	0	0	0	0	0	0	1	6299	738	26	2		2	GCN1L1	12	120600702	Silent	SNP	C	TCGA-04-1357-01A-01W-0492-08	63952714	120600702	13251193	25	815											
SLC7A7	9056	broad.mit.edu	37	14	23248049	23248049	+	Silent	SNP	G	G	C			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr14:23248049G>C	ENST00000397532.3	-	4	1248	c.723C>G	c.(721-723)ggC>ggG	p.G241G	SLC7A7_ENST00000397529.2_Silent_p.G241G|SLC7A7_ENST00000555702.1_Silent_p.G241G|SLC7A7_ENST00000397528.4_Silent_p.G241G|SLC7A7_ENST00000554517.1_5'UTR|SLC7A7_ENST00000285850.7_Silent_p.G241G|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	241					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.G241G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GGGTGTCCCAGCCTGAGTAGG	0.473																																																1	Substitution - coding silent(1)	ovary(1)	14											157	123	135					14																	23248049		2203	4300	6503	22317889	SO:0001819	synonymous_variant	9056			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.723C>G	14.37:g.23248049G>C			22317889	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	CCDS9574.1																																																																																				0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			C	23248049	G	C	23248049	2	2	15	1	0	0	0	0	0	0	0	1	14706	958	34	3		3	SLC7A7	14	23248049	Silent	SNP	G	TCGA-04-1357-01A-01W-0492-08		23248049	84101491	26	816											
ANPEP	290	broad.mit.edu	37	15	90335747	90335747	+	Missense_Mutation	SNP	G	G	A	rs148410109		TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr15:90335747G>A	ENST00000300060.6	-	17	2609	c.2296C>T	c.(2296-2298)Cca>Tca	p.P766S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	766	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.P766S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCACACTCTGGAACTCCGTTG	0.577																																					NSCLC(30;827 977 2459 19669 26125)											1	Substitution - Missense(1)	ovary(1)	15						G	SER/PRO	0,4400		0,0,2200	137	117	123		2296	-8.4	0	15	dbSNP_134	123	1,8597	1.2+/-3.3	0,1,4298	no	missense	ANPEP	NM_001150.2	74	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	766/968	90335747	1,12997	2200	4299	6499	88136751	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2296C>T	15.37:g.90335747G>A	ENSP00000300060:p.Pro766Ser		88136751	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	9.152	1.016554	0.19355	0.0	1.16E-4	ENSG00000166825	ENST00000300060	T	0.05580	3.42	4.58	-8.41	0.00961	.	1.984930	0.02249	N	0.066466	T	0.03739	0.0106	N	0.21583	0.68	0.09310	N	1	B	0.12630	0.006	B	0.19148	0.024	T	0.38950	-0.9637	10	0.15952	T	0.53	.	5.8666	0.18779	0.0745:0.4786:0.1568:0.2901	.	766	P15144	AMPN_HUMAN	S	766	ENSP00000300060:P766S	ENSP00000300060:P766S	P	-	1	0	ANPEP	88136751	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.105000	0.00025	-1.060000	0.03189	-0.314000	0.08810	CCA		0.577	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			A	90335747	G	A	90335747	3	1	15	1	0	0	0	0	1	0	0	0	710	1174	41	2	627	2	ANPEP	15	90335747	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08		90335747	12195645	27	817											
BLM	641	broad.mit.edu	37	15	91292753	91292753	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr15:91292753G>T	ENST00000355112.3	+	3	373	c.255G>T	c.(253-255)agG>agT	p.R85S	BLM_ENST00000560509.1_Missense_Mutation_p.R85S	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	85					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.R85S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ATCAGCAAAGGGTCAAGGACT	0.403			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	1	Substitution - Missense(1)	ovary(1)	15											71	70	70					15																	91292753		2198	4298	6496	89093757	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.255G>T	15.37:g.91292753G>T	ENSP00000347232:p.Arg85Ser		89093757	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095917	0.20552	.	.	ENSG00000197299	ENST00000355112	T	0.44083	0.93	5.91	-2.08	0.07254	.	1.363960	0.04220	N	0.333455	T	0.32315	0.0825	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.42749	-0.9433	10	0.72032	D	0.01	-10.0147	9.3697	0.38246	0.0:0.3082:0.3509:0.3408	.	85;85	B2RAN0;P54132	.;BLM_HUMAN	S	85	ENSP00000347232:R85S	ENSP00000347232:R85S	R	+	3	2	BLM	89093757	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.018000	0.13422	-0.152000	0.11156	0.655000	0.94253	AGG		0.403	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			T	91292753	G	T	91292753	3	4	15	1	0	0	0	0	1	0	0	0	1445	1223	43	3	261	3	BLM	15	91292753	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08	957006	91292753	11238639	28	818											
SMG1	23049	broad.mit.edu	37	16	18882779	18882779	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr16:18882779C>T	ENST00000446231.2	-	16	2621	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	snoU13_ENST00000459248.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.E737K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	737	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E733K(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACAGCTGCTTCCAAAGCCCAA	0.343																																																1	Substitution - Missense(1)	ovary(1)	16											56	51	52					16																	18882779		1813	4081	5894	18790280	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2209G>A	16.37:g.18882779C>T	ENSP00000402515:p.Glu737Lys		18790280	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440783	0.96168	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.15017	2.46;2.46	5.21	5.21	0.72293	Armadillo-type fold (1);	0.000000	0.64402	U	0.000004	T	0.38825	0.1055	L	0.59436	1.845	0.51767	D	0.999939	D	0.63880	0.993	D	0.68192	0.956	T	0.02214	-1.1194	10	0.34782	T	0.22	.	19.116	0.93340	0.0:1.0:0.0:0.0	.	737	Q96Q15	SMG1_HUMAN	K	737	ENSP00000402515:E737K;ENSP00000374118:E737K	ENSP00000374118:E737K	E	-	1	0	SMG1	18790280	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.569000	0.82380	2.589000	0.87451	0.555000	0.69702	GAA		0.343	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18882779	C	T	18882779	3	4	15	1	0	0	0	0	1	0	0	0	14798	864	30	2	8968	2	SMG1	16	18882779	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08		18882779	71471974	29	819											
GFOD2	81577	broad.mit.edu	37	16	67709567	67709567	+	Missense_Mutation	SNP	C	C	T	rs566819045		TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr16:67709567C>T	ENST00000268797.7	-	3	994	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	217					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.V217I(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCGCTAGTGACGTGCCGGATG	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											81	70	73					16																	67709567		2198	4300	6498	66267068	SO:0001583	missense	81577			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.649G>A	16.37:g.67709567C>T	ENSP00000268797:p.Val217Ile		66267068	Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	6.019	0.371833	0.11409	.	.	ENSG00000141098	ENST00000268797	T	0.41400	1.0	5.28	5.28	0.74379	.	0.114776	0.64402	D	0.000014	T	0.30293	0.0760	N	0.16266	0.395	0.58432	D	0.99999	B	0.19331	0.035	B	0.15484	0.013	T	0.05354	-1.0890	10	0.23891	T	0.37	-44.168	18.8749	0.92331	0.0:1.0:0.0:0.0	.	217	Q3B7J2	GFOD2_HUMAN	I	217	ENSP00000268797:V217I	ENSP00000268797:V217I	V	-	1	0	GFOD2	66267068	0.981000	0.34729	0.989000	0.46669	0.897000	0.52465	2.571000	0.45990	2.625000	0.88918	0.557000	0.71058	GTC		0.587	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		T	67709567	C	T	67709567	3	4	15	1	0	0	0	0	1	0	0	0	6344	536	19	1	512	1	GFOD2	16	67709567	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08	48826788	67709567	22645186	30	820											
RANBP10	57610	broad.mit.edu	37	16	67765391	67765391	+	Silent	SNP	G	G	A			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr16:67765391G>A	ENST00000317506.3	-	7	988	c.873C>T	c.(871-873)tcC>tcT	p.S291S	RANBP10_ENST00000425512.2_Silent_p.S159S|RANBP10_ENST00000536251.1_Silent_p.S62S|RANBP10_ENST00000448631.2_Silent_p.S235S|RANBP10_ENST00000602677.1_Silent_p.S291S|RANBP10_ENST00000411657.2_Silent_p.S174S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	291	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S291S(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TGTTCTTTATGGACGCCTGTT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	16											172	157	162					16																	67765391		2198	4300	6498	66322892	SO:0001819	synonymous_variant	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.873C>T	16.37:g.67765391G>A			66322892	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Silent	SNP	ENST00000317506.3	37	CCDS32469.1																																																																																				0.483	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		A	67765391	G	A	67765391	2	1	15	1	0	0	0	0	0	0	0	1	13029	1335	47	2		2	RANBP10	16	67765391	Silent	SNP	G	TCGA-04-1357-01A-01W-0492-08	55824	67765391	22589362	31	821											
TP53	7157	broad.mit.edu	37	17	7578179	7578180	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	CA	CA	-	-	CA	CA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr17:7578179_7578180delCA	ENST00000269305.4	-	6	858_859	c.669_670delTG	c.(667-672)cctgagfs	p.E224fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.E224fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E224fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.E224fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E224fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E224fs	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(13)|p.0?(8)|p.E224*(5)|p.E224K(5)|p.P223P(4)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(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)	AACCAGACCTCAGGCGGCTCAT	0.535		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"	39	Unknown(13)|Whole gene deletion(8)|Substitution - Nonsense(5)|Substitution - Missense(5)|Substitution - coding silent(4)|Deletion - Frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	biliary_tract(5)|endometrium(5)|stomach(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|urinary_tract(3)|central_nervous_system(2)|oesophagus(2)|skin(2)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|large_intestine(1)|breast(1)	17																																								7518905	SO:0001589	frameshift_variant	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.669_670delTG	17.37:g.7578179_7578180delCA	ENSP00000269305:p.Glu224fs		7518904	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578180	CA	-	7578179	7	5	15	1	0	1	0	1	0	0	0	0	16381	835	29	0	624	0	TP53	17	7578179	Frame_Shift_Del	DEL	CA	TCGA-04-1357-01A-01W-0492-08		7578179	73617031	32	822											
MYH1	4619	broad.mit.edu	37	17	10404659	10404659	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr17:10404659T>G	ENST00000226207.5	-	27	3600	c.3506A>C	c.(3505-3507)aAg>aCg	p.K1169T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1169					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1169T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCCCGCTTCTTGTTCATCTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											90	100	96					17																	10404659		2203	4300	6503	10345384	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3506A>C	17.37:g.10404659T>G	ENSP00000226207:p.Lys1169Thr		10345384	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.890724	0.91889	.	.	ENSG00000109061	ENST00000226207	D	0.85629	-2.01	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.45361	U	0.000378	D	0.93713	0.7991	M	0.91920	3.255	0.58432	D	0.999998	D	0.63880	0.993	D	0.70487	0.969	D	0.95003	0.8145	10	0.87932	D	0	.	15.9255	0.79611	0.0:0.0:0.0:1.0	.	1169	P12882	MYH1_HUMAN	T	1169	ENSP00000226207:K1169T	ENSP00000226207:K1169T	K	-	2	0	MYH1	10345384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.889000	0.87307	2.221000	0.72209	0.528000	0.53228	AAG		0.607	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		G	10404659	T	G	10404659	3	3	15	1	0	0	0	0	1	0	0	0	10029	1609	56	5	2369	5	MYH1	17	10404659	Missense_Mutation	SNP	T	TCGA-04-1357-01A-01W-0492-08	2826480	10404659	70790551	33	823											
TOP2A	7153	broad.mit.edu	37	17	38554849	38554849	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr17:38554849C>A	ENST00000423485.1	-	27	3656	c.3498G>T	c.(3496-3498)ttG>ttT	p.L1166F		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1166					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.L1166F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTTCTTTCCACAAATCTGATG	0.294																																																1	Substitution - Missense(1)	ovary(1)	17											52	46	48					17																	38554849		1800	4066	5866	35808375	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3498G>T	17.37:g.38554849C>A	ENSP00000411532:p.Leu1166Phe		35808375	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689175	0.68271	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.48522	0.81	5.65	2.57	0.30868	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, central (1);	0.000000	0.85682	D	0.000000	T	0.70491	0.3230	M	0.90198	3.095	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.74754	-0.3558	10	0.66056	D	0.02	.	10.671	0.45757	0.0:0.7315:0.0:0.2685	.	1166	P11388	TOP2A_HUMAN	F	1166;1246;1189;1202	ENSP00000411532:L1166F	ENSP00000269577:L1246F	L	-	3	2	TOP2A	35808375	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.061000	0.30542	0.865000	0.35603	-0.142000	0.14014	TTG		0.294	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			A	38554849	C	A	38554849	3	1	15	1	0	0	0	0	1	0	0	0	16365	477	17	3	1133	3	TOP2A	17	38554849	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08	28150190	38554849	42640361	34	824											
STAT5B	6777	broad.mit.edu	37	17	40362268	40362268	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr17:40362268G>C	ENST00000293328.3	-	15	1995	c.1827C>G	c.(1825-1827)aaC>aaG	p.N609K		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	609	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.N609K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CATCTGGCTTGTTAATGAGTA	0.493																																																1	Substitution - Missense(1)	ovary(1)	17											140	122	128					17																	40362268		2203	4300	6503	37615794	SO:0001583	missense	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1827C>G	17.37:g.40362268G>C	ENSP00000293328:p.Asn609Lys		37615794	Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875407	0.33162	.	.	ENSG00000173757	ENST00000293328	T	0.54279	0.58	5.19	4.23	0.50019	SH2 motif (4);	0.137571	0.64402	D	0.000003	T	0.34454	0.0898	N	0.13168	0.305	0.45490	D	0.998455	B	0.20887	0.049	B	0.22152	0.038	T	0.10567	-1.0624	10	0.16420	T	0.52	-3.0911	13.8315	0.63384	0.0732:0.0:0.9268:0.0	.	609	P51692	STA5B_HUMAN	K	609	ENSP00000293328:N609K	ENSP00000293328:N609K	N	-	3	2	STAT5B	37615794	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.223000	0.65283	1.433000	0.47394	-0.136000	0.14681	AAC		0.493	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		C	40362268	G	C	40362268	3	2	15	1	0	0	0	0	1	0	0	0	15271	1368	48	3	556	3	STAT5B	17	40362268	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08	1807419	40362268	40832942	35	825											
BRCA1	672	broad.mit.edu	37	17	41226411	41226411	+	Nonsense_Mutation	SNP	G	G	A	rs80356992|rs80357915		TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr17:41226411G>A	ENST00000357654.3	-	14	4730	c.4612C>T	c.(4612-4614)Cag>Tag	p.Q1538*	BRCA1_ENST00000493795.1_Nonsense_Mutation_p.Q1491*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.Q396*|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.Q434*|BRCA1_ENST00000591534.1_Nonsense_Mutation_p.Q29*|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.Q1242*|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.Q355*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.Q1559*|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.Q434*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1538					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1538*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTTCCAGCTGTTGCTCCTCC	0.443			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Nonsense(1)	ovary(1)	17	GRCh37	CM980230	BRCA1	M	rs80356992						149	157	154					17																	41226411		2203	4300	6503	38479937	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4612C>T	17.37:g.41226411G>A	ENSP00000350283:p.Gln1538*		38479937	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437249	0.83885	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	.	.	.	5.54	2.44	0.29823	.	0.434165	0.19728	N	0.107439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.1345	0.25521	0.0:0.2106:0.5014:0.288	.	.	.	.	X	1538;1559;396;355;1242;434;387;1560;1491;433;434;309;388	.	ENSP00000310938:Q1242X	Q	-	1	0	BRCA1	38479937	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.393000	0.20817	0.435000	0.26365	-1.036000	0.02392	CAG		0.443	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41226411	G	A	41226411	4	1	15	1	0	0	0	0	0	1	0	0	1498	1386	48	2	1019	2	BRCA1	17	41226411	Nonsense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08	864143	41226411	39968799	36	826											
MRPL10	124995	broad.mit.edu	37	17	45904417	45904417	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr17:45904417A>G	ENST00000351111.2	-	3	381	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L	MRPL10_ENST00000290208.7_Missense_Mutation_p.F136L|MRPL10_ENST00000414011.1_Missense_Mutation_p.F136L	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	126					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.F126L(1)		endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TGGTTGGGGAAGACCTTCATC	0.567																																																1	Substitution - Missense(1)	ovary(1)	17											81	70	74					17																	45904417		2203	4300	6503	43259416	SO:0001583	missense	124995			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.376T>C	17.37:g.45904417A>G	ENSP00000324100:p.Phe126Leu		43259416	A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761608	0.89932	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.39997	1.05;1.05;1.05	5.62	5.62	0.85841	.	0.141232	0.64402	D	0.000004	T	0.50188	0.1601	M	0.66939	2.045	0.58432	D	0.999997	B;P	0.37207	0.411;0.587	B;B	0.43754	0.43;0.249	T	0.51371	-0.8714	10	0.48119	T	0.1	-7.1627	14.8043	0.69942	1.0:0.0:0.0:0.0	.	126;136	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	L	126;136;136	ENSP00000324100:F126L;ENSP00000290208:F136L;ENSP00000395870:F136L	ENSP00000290208:F136L	F	-	1	0	MRPL10	43259416	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.491000	0.73649	2.146000	0.66826	0.459000	0.35465	TTC		0.567	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		G	45904417	A	G	45904417	3	3	15	1	0	0	0	0	1	0	0	0	9775	72	3	4	421	4	MRPL10	17	45904417	Missense_Mutation	SNP	A	TCGA-04-1357-01A-01W-0492-08	4678006	45904417	35290793	37	827											
AP1M1	8907	broad.mit.edu	37	19	16314404	16314404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr19:16314404G>A	ENST00000291439.3	+	2	626	c.177G>A	c.(175-177)tgG>tgA	p.W59*	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Nonsense_Mutation_p.W59*|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Nonsense_Mutation_p.W59*	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	59					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.W59*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GTTTCATGTGGATCAAACACA	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	19											105	95	98					19																	16314404		2203	4300	6503	16175404	SO:0001587	stop_gained	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.177G>A	19.37:g.16314404G>A	ENSP00000291439:p.Trp59*		16175404	Q4TTY5	Nonsense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	38	6.812363	0.97857	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	.	.	.	4.73	4.73	0.59995	.	0.063541	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-21.3479	16.709	0.85380	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000291439:W59X	W	+	3	0	AP1M1	16175404	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.520000	0.98027	2.194000	0.70268	0.655000	0.94253	TGG		0.582	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		A	16314404	G	A	16314404	4	1	15	1	0	0	0	0	0	1	0	0	734	1183	41	2	183	2	AP1M1	19	16314404	Nonsense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08		16314404	42814579	38	828											
NCAN	1463	broad.mit.edu	37	19	19329823	19329823	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr19:19329823C>T	ENST00000252575.6	+	3	272	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	58	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.P58L(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GTGGCCCTGCCCTGTCTCTTT	0.652																																																1	Substitution - Missense(1)	ovary(1)	19											33	33	33					19																	19329823		2202	4299	6501	19190823	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.173C>T	19.37:g.19329823C>T	ENSP00000252575:p.Pro58Leu		19190823	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691798	0.88735	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.67698	-0.28	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37669	N	0.001987	D	0.82935	0.5145	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86342	0.1705	10	0.87932	D	0	-19.3405	14.8061	0.69956	0.0:1.0:0.0:0.0	.	58	O14594	NCAN_HUMAN	L	72;58	ENSP00000252575:P58L	ENSP00000252575:P58L	P	+	2	0	NCAN	19190823	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.192000	0.77771	2.060000	0.61445	0.491000	0.48974	CCC		0.652	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		T	19329823	C	T	19329823	3	4	15	1	0	0	0	0	1	0	0	0	10204	623	22	2	179	2	NCAN	19	19329823	Missense_Mutation	SNP	C	TCGA-04-1357-01A-01W-0492-08	3015419	19329823	39799160	39	829											
CD22	933	broad.mit.edu	37	19	35837099	35837099	+	Missense_Mutation	SNP	T	T	A	rs376085852		TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr19:35837099T>A	ENST00000085219.5	+	13	2439	c.2373T>A	c.(2371-2373)gaT>gaA	p.D791E	CD22_ENST00000594250.1_Missense_Mutation_p.D614E|CD22_ENST00000536635.2_Missense_Mutation_p.D703E|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000341773.6_Missense_Mutation_p.D614E|CD22_ENST00000544992.2_Nonstop_Mutation_p.*752R|CD22_ENST00000270311.6_Missense_Mutation_p.D606E|CD22_ENST00000419549.2_Missense_Mutation_p.D619E	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	791					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.D791E(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGGACTGCGATGACACGGTCA	0.597																																					Ovarian(42;1009 1133 23674 26041)											1	Substitution - Missense(1)	ovary(1)	19											115	99	105					19																	35837099		2203	4300	6503	40528939	SO:0001583	missense	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2373T>A	19.37:g.35837099T>A	ENSP00000085219:p.Asp791Glu		40528939	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.531|0.531	-0.857841|-0.857841	0.02610|0.02610	.|.	.|.	ENSG00000012124|ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549|ENST00000544992	T;T;T;T;T|.	0.57752|.	0.92;0.47;0.38;0.76;0.98|.	3.67|3.67	-5.6|-5.6	0.02497|0.02497	.|.	0.839834|.	0.10147|.	N|.	0.710088|.	T|.	0.16171|.	0.0389|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;P;P|.	0.38535|.	0.149;0.404;0.635;0.547|.	B;B;B;B|.	0.37989|.	0.081;0.159;0.081;0.262|.	T|.	0.25984|.	-1.0116|.	9|.	0.22109|.	T|.	0.4|.	.|.	1.2828|1.2828	0.02044|0.02044	0.1493:0.2907:0.3295:0.2305|0.1493:0.2907:0.3295:0.2305	.|.	619;703;791;614|.	Q32M46;F5H7U3;P20273;P20273-2|.	.;.;CD22_HUMAN;.|.	E|R	791;703;614;606;619|752	ENSP00000085219:D791E;ENSP00000442279:D703E;ENSP00000339349:D614E;ENSP00000270311:D606E;ENSP00000403822:D619E|.	ENSP00000085219:D791E|.	D|X	+|+	3|1	2|0	CD22|CD22	40528939|40528939	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.042000|0.042000	0.13812|0.13812	-3.175000|-3.175000	0.00571|0.00571	-0.951000|-0.951000	0.03654|0.03654	0.260000|0.260000	0.18958|0.18958	GAT|TGA		0.597	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		A	35837099	T	A	35837099	3	1	15	1	0	0	0	0	1	0	0	0	2985	1477	51	5	2419	5	CD22	19	35837099	Missense_Mutation	SNP	T	TCGA-04-1357-01A-01W-0492-08	16507276	35837099	23291884	40	830											
KIAA0406	9675	broad.mit.edu	37	20	36640434	36640434	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1357-01A-01W-0492-08	TCGA-04-1357-11A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	184467e7-409e-4faa-bdb1-4d7170eb943e	9df2678e-697e-4a03-9abe-0b3edba10e2f	g.chr20:36640434G>C	ENST00000373448.2	-	3	2023	c.1785C>G	c.(1783-1785)atC>atG	p.I595M	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.I595M|TTI1_ENST00000373447.3_Missense_Mutation_p.I595M	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	595					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.I595M(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CACCAGACGTGATGGCTTGGA	0.448																																																1	Substitution - Missense(1)	ovary(1)	20											141	144	143					20																	36640434		2203	4300	6503	36073848	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1785C>G	20.37:g.36640434G>C	ENSP00000362547:p.Ile595Met		36073848	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	5.033	0.191823	0.09547	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.15139	2.45;2.45;2.45	5.23	5.23	0.72850	Armadillo-type fold (1);	0.410465	0.25741	N	0.028602	T	0.16342	0.0393	L	0.47716	1.5	0.27115	N	0.962276	P	0.37636	0.603	B	0.36666	0.23	T	0.12553	-1.0543	10	0.39692	T	0.17	-18.8485	11.4776	0.50308	0.0844:0.0:0.9156:0.0	.	595	O43156	TTI1_HUMAN	M	595	ENSP00000362547:I595M;ENSP00000362546:I595M;ENSP00000407270:I595M	ENSP00000362546:I595M	I	-	3	3	TTI1	36073848	1.000000	0.71417	0.966000	0.40874	0.032000	0.12392	0.917000	0.28665	2.719000	0.93026	0.655000	0.94253	ATC		0.448	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		C	36640434	G	C	36640434	3	2	15	1	0	0	0	0	1	0	0	0	8173	1280	45	3	1512	3	KIAA0406	20	36640434	Missense_Mutation	SNP	G	TCGA-04-1357-01A-01W-0492-08		36640434	26385086	41	831											
ARHGEF10L	55160	genome.wustl.edu	37	1	17950939	17950939	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr1:17950939G>A	ENST00000361221.3	+	13	1417	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A381T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.A178T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A420T|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A198T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A381T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	420	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A420T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTTCACCAGTGCCATGTCCAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											240	176	198					1																	17950939		2203	4300	6503	17823526	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1258G>A	1.37:g.17950939G>A	ENSP00000355060:p.Ala420Thr		17823526	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924724	0.92319	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.976;0.998;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.75484	0.971;0.946;0.964;0.971;0.964;0.977;0.986	D	0.84880	0.0830	10	0.87932	D	0	-31.5189	16.2112	0.82164	0.0:0.0:1.0:0.0	.	198;178;420;186;381;381;420	Q5VXI4;B4DTE2;Q9HCE6-5;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	T	420;381;420;381;178;198;198	ENSP00000355060:A420T;ENSP00000399401:A381T;ENSP00000394621:A420T;ENSP00000364564:A381T;ENSP00000364569:A178T;ENSP00000364557:A198T	ENSP00000355060:A420T	A	+	1	0	ARHGEF10L	17823526	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.373000	0.97168	2.166000	0.68216	0.561000	0.74099	GCC		0.562	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		A	17950939	G	A	17950939	3	1	16	1	0	0	0	0	1	0	0	0	895	1319	46	2	1304	2	ARHGEF10L	1	17950939	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09		17950939	231299682	1	832											
TXLNA	200081	genome.wustl.edu	37	1	32660681	32660681	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr1:32660681G>T	ENST00000373609.1	+	10	1807	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	TXLNA_ENST00000373610.3_Missense_Mutation_p.G509V			P40222	TXLNA_HUMAN	taxilin alpha	509					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.G509V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAGGGGCCTGGGGCTCAAGCA	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											39	40	40					1																	32660681		2203	4300	6503	32433268	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1526G>T	1.37:g.32660681G>T	ENSP00000362711:p.Gly509Val		32433268	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240830	0.22711	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.31247	1.5;1.5	4.61	1.57	0.23409	.	0.711165	0.13467	N	0.385670	T	0.15219	0.0367	N	0.14661	0.345	0.25405	N	0.988402	B	0.12630	0.006	B	0.08055	0.003	T	0.22173	-1.0224	10	0.26408	T	0.33	-5.1795	6.2263	0.20710	0.1341:0.0:0.5844:0.2814	.	509	P40222	TXLNA_HUMAN	V	509	ENSP00000362712:G509V;ENSP00000362711:G509V	ENSP00000362711:G509V	G	+	2	0	TXLNA	32433268	0.043000	0.20138	0.024000	0.17045	0.986000	0.74619	2.309000	0.43699	0.634000	0.30469	0.563000	0.77884	GGG		0.642	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		T	32660681	G	T	32660681	3	4	16	1	0	0	0	0	1	0	0	0	16787	1232	43	3	1564	3	TXLNA	1	32660681	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09	14709742	32660681	216589940	2	833											
EVI5	7813	genome.wustl.edu	37	1	92979338	92979338	+	Missense_Mutation	SNP	G	G	T	rs373069997		TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr1:92979338G>T	ENST00000370331.1	-	18	2317	c.2308C>A	c.(2308-2310)Ccc>Acc	p.P770T	EVI5_ENST00000540033.1_Missense_Mutation_p.P770T|EVI5_ENST00000543509.1_Missense_Mutation_p.P781T	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	770	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.P770T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GCCACTGCGGGGTCCAAAGAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											94	98	97					1																	92979338		2203	4300	6503	92751926	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2308C>A	1.37:g.92979338G>T	ENSP00000359356:p.Pro770Thr		92751926	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167506	0.38315	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.06142	3.34;3.34;3.34	5.92	5.92	0.95590	.	0.458193	0.20691	N	0.087441	T	0.03477	0.0100	N	0.22421	0.69	0.45733	D	0.998635	B;B	0.26195	0.144;0.089	B;B	0.29353	0.101;0.047	T	0.44436	-0.9328	10	0.62326	D	0.03	-0.06	18.4921	0.90852	0.0:0.0:1.0:0.0	.	781;770	F5H4R0;O60447	.;EVI5_HUMAN	T	770;770;781	ENSP00000359356:P770T;ENSP00000440826:P770T;ENSP00000445019:P781T	ENSP00000359356:P770T	P	-	1	0	EVI5	92751926	1.000000	0.71417	0.564000	0.28396	0.328000	0.28507	3.180000	0.50895	2.793000	0.96121	0.650000	0.86243	CCC		0.478	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		T	92979338	G	T	92979338	3	4	16	1	0	0	0	0	1	0	0	0	5289	1232	43	3	128	3	EVI5	1	92979338	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09	60318657	92979338	156271283	3	834											
AKNAD1	254268	genome.wustl.edu	37	1	109394765	109394765	+	Silent	SNP	C	C	T	rs537008332		TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr1:109394765C>T	ENST00000370001.3	-	2	790	c.522G>A	c.(520-522)ccG>ccA	p.P174P	AKNAD1_ENST00000369994.1_Silent_p.P174P|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Silent_p.P174P	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	174						cytoplasm (GO:0005737)		p.P174P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CATCCCTTTTCGGGTTGAGTT	0.423													C|||	1	0.000199681	0	0.0014	5008	,	,		18922	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1											62	63	63					1																	109394765		2202	4295	6497	109196288	SO:0001819	synonymous_variant	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.522G>A	1.37:g.109394765C>T			109196288	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	ENST00000370001.3	37	CCDS791.2																																																																																				0.423	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		T	109394765	C	T	109394765	2	4	16	1	0	0	0	0	0	0	0	1	464	871	31	1		1	AKNAD1	1	109394765	Silent	SNP	C	TCGA-04-1361-01A-01W-0494-09	16415427	109394765	139855856	4	835											
ADORA3	140	genome.wustl.edu	37	1	112045738	112045738	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr1:112045738A>T	ENST00000241356.4	-	1	644	c.239T>A	c.(238-240)tTc>tAc	p.F80Y	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.F80Y	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	80					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.F80Y(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GCAGCTGTAGAAGTGGATTGT	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											92	69	77					1																	112045738		2203	4300	6503	111847261	SO:0001583	missense	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.239T>A	1.37:g.112045738A>T	ENSP00000241356:p.Phe80Tyr		111847261	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	CCDS839.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932325	0.52866	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.75589	-0.95;-0.95	5.26	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000241	T	0.61874	0.2382	M	0.72118	2.19	0.38760	D	0.954303	B;B	0.30439	0.279;0.229	B;B	0.37091	0.127;0.241	T	0.60454	-0.7260	10	0.46703	T	0.11	-22.0875	10.107	0.42539	0.6167:0.0:0.0:0.3832	.	80;80	P33765;P33765-2	AA3R_HUMAN;.	Y	80	ENSP00000358730:F80Y;ENSP00000241356:F80Y	ENSP00000241356:F80Y	F	-	2	0	ADORA3	111847261	1.000000	0.71417	0.502000	0.27614	0.908000	0.53690	4.093000	0.57714	0.355000	0.24131	0.459000	0.35465	TTC		0.512	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		T	112045738	A	T	112045738	3	4	16	1	0	0	0	0	1	0	0	0	329	246	9	5	1439	5	ADORA3	1	112045738	Missense_Mutation	SNP	A	TCGA-04-1361-01A-01W-0494-09	2650973	112045738	137204883	5	836											
FAM20B	9917	genome.wustl.edu	37	1	179033499	179033499	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr1:179033499G>T	ENST00000263733.4	+	6	1142	c.806G>T	c.(805-807)gGc>gTc	p.G269V		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	269						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.G269V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TATGACTCTGGCCCGCGCCTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											201	168	179					1																	179033499		2203	4300	6503	177300122	SO:0001583	missense	9917			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.806G>T	1.37:g.179033499G>T	ENSP00000263733:p.Gly269Val		177300122	Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051738	0.93793	.	.	ENSG00000116199	ENST00000263733	D	0.83075	-1.68	5.91	5.91	0.95273	.	0.048049	0.85682	D	0.000000	D	0.91456	0.7303	M	0.85197	2.74	0.80722	D	1	P	0.42941	0.794	P	0.55577	0.779	D	0.91577	0.5276	10	0.87932	D	0	-63.7364	20.2985	0.98592	0.0:0.0:1.0:0.0	.	269	O75063	XYLK_HUMAN	V	269	ENSP00000263733:G269V	ENSP00000263733:G269V	G	+	2	0	FAM20B	177300122	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.615000	0.83006	2.793000	0.96121	0.655000	0.94253	GGC		0.498	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		T	179033499	G	T	179033499	3	4	16	1	0	0	0	0	1	0	0	0	5538	1203	42	3	824	3	FAM20B	1	179033499	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09	66987761	179033499	70217122	6	837											
PTGS2	5743	genome.wustl.edu	37	1	186645722	186645722	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr1:186645722C>T	ENST00000367468.5	-	7	983	c.847G>A	c.(847-849)Ggt>Agt	p.G283S	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	283					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.G283S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	ATCATCAGACCAGGCACCAGA	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											126	117	120					1																	186645722		2203	4300	6503	184912345	SO:0001583	missense	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.847G>A	1.37:g.186645722C>T	ENSP00000356438:p.Gly283Ser		184912345	A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	35	5.520406	0.96416	.	.	ENSG00000073756	ENST00000367468	T	0.21191	2.02	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.966	T	0.66416	-0.5929	10	0.59425	D	0.04	-16.5579	19.4407	0.94820	0.0:1.0:0.0:0.0	.	283;283	Q8IZA9;P35354	.;PGH2_HUMAN	S	283	ENSP00000356438:G283S	ENSP00000356438:G283S	G	-	1	0	PTGS2	184912345	1.000000	0.71417	0.904000	0.35570	0.987000	0.75469	7.627000	0.83176	2.586000	0.87340	0.650000	0.86243	GGT		0.517	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		T	186645722	C	T	186645722	3	4	16	1	0	0	0	0	1	0	0	0	12759	594	21	2	983	2	PTGS2	1	186645722	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	7612223	186645722	62604899	7	838											
DNMT3A	1788	genome.wustl.edu	37	2	25457159	25457159	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr2:25457159C>T	ENST00000264709.3	-	23	3065	c.2728G>A	c.(2728-2730)Gcg>Acg	p.A910T	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A687T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A721T|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A910T|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	910	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.A910T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACACACACGCAAAATACTCC	0.502			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	ovary(1)	2											73	70	71					2																	25457159		2203	4300	6503	25310663	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2728G>A	2.37:g.25457159C>T	ENSP00000264709:p.Ala910Thr		25310663	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987982	0.74589	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.986	D;B	0.64687	0.928;0.306	D	0.98567	1.0644	10	0.87932	D	0	-4.1862	18.0755	0.89426	0.0:1.0:0.0:0.0	.	910;721	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	T	721;910;910;687	ENSP00000370122:A721T;ENSP00000324375:A910T;ENSP00000264709:A910T;ENSP00000384237:A687T	ENSP00000264709:A910T	A	-	1	0	DNMT3A	25310663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.916000	0.69981	2.595000	0.87683	0.561000	0.74099	GCG		0.502	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		T	25457159	C	T	25457159	3	4	16	1	0	0	0	0	1	0	0	0	4676	710	25	2	14	2	DNMT3A	2	25457159	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09		25457159	217742214	8	839											
SULT1C2	6819	genome.wustl.edu	37	2	108921127	108921127	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr2:108921127A>G	ENST00000437390.2	+	5	692	c.515A>G	c.(514-516)gAg>gGg	p.E172G	SULT1C2_ENST00000326853.5_Missense_Mutation_p.E169G|SULT1C2_ENST00000409880.1_Missense_Mutation_p.E121G|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E158G			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	164					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.E169G(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACCTGGGAAGAGTATTTTGAA	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											143	131	135					2																	108921127		2203	4300	6503	108287559	SO:0001583	missense	6819			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"Sulfotransferases, cytosolic"	11456	protein-coding gene	gene with protein product		602385	"sulfotransferase family, cytosolic, 1C, member 1"	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.515A>G	2.37:g.108921127A>G	ENSP00000399651:p.Glu172Gly		108287559	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37		.	.	.	.	.	.	.	.	.	.	A	13.23	2.176463	0.38413	.	.	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	4.67	4.67	0.58626	Sulfotransferase domain (1);	0.353337	0.27023	N	0.021309	T	0.05686	0.0149	M	0.81614	2.55	0.36604	D	0.874849	B;B;B;B	0.22983	0.078;0.056;0.078;0.063	B;B;B;B	0.26693	0.072;0.033;0.072;0.043	T	0.04650	-1.0936	10	0.56958	D	0.05	.	13.735	0.62813	1.0:0.0:0.0:0.0	.	172;73;158;169	B4DLP0;B4DPE8;O00338;O00338-2	.;.;ST1C2_HUMAN;.	G	158;169;121;172	ENSP00000251481:E158G;ENSP00000319622:E169G;ENSP00000387054:E121G;ENSP00000399651:E172G	ENSP00000251481:E158G	E	+	2	0	SULT1C2	108287559	0.950000	0.32346	0.848000	0.33437	0.598000	0.36846	4.382000	0.59594	2.082000	0.62665	0.533000	0.62120	GAG		0.468	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		G	108921127	A	G	108921127	3	3	16	1	0	0	0	0	1	0	0	0	15377	304	11	4	586	4	SULT1C2	2	108921127	Missense_Mutation	SNP	A	TCGA-04-1361-01A-01W-0494-09	83463968	108921127	134278246	9	840											
SCN1A	6323	genome.wustl.edu	37	2	166852522	166852522	+	Splice_Site	SNP	C	C	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr2:166852522C>T	ENST00000303395.4	-	24	4581		c.e24+1		AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Splice_Site|SCN1A_ENST00000409050.1_Splice_Site|SCN1A_ENST00000423058.2_Splice_Site			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit						adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.?(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATACTTCTTACTCCTGGTCGA	0.328																																																1	Unknown(1)	ovary(1)	2											111	107	109					2																	166852522		2203	4299	6502	166560768	SO:0001630	splice_region_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4581+1G>A	2.37:g.166852522C>T			166560768	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918564	0.92249	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1438	0.98071	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN1A	166560768	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.585000	0.82584	2.768000	0.95171	0.650000	0.86243	.		0.328	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	Intron	T	166852522	C	T	166852522	5	4	16	1	0	0	0	0	0	0	1	0	13917	579	20	2	1459	2	SCN1A	2	166852522	Splice_Site	SNP	C	TCGA-04-1361-01A-01W-0494-09	57931395	166852522	76346851	10	841											
PPIG	9360	genome.wustl.edu	37	2	170493347	170493347	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr2:170493347A>G	ENST00000260970.3	+	14	1799	c.1579A>G	c.(1579-1581)Agt>Ggt	p.S527G	PPIG_ENST00000448752.2_Missense_Mutation_p.S527G|PPIG_ENST00000409714.3_Missense_Mutation_p.S512G	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	527					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.S527G(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGAATCAAAGAGTAATGAGCA	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											55	54	54					2																	170493347		2203	4300	6503	170201593	SO:0001583	missense	9360			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1579A>G	2.37:g.170493347A>G	ENSP00000260970:p.Ser527Gly		170201593	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094862	0.36952	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.18338	2.22;2.22;2.22	5.74	5.74	0.90152	.	0.211109	0.49305	D	0.000152	T	0.11110	0.0271	N	0.19112	0.55	0.35355	D	0.787679	B;P;B	0.39782	0.043;0.688;0.043	B;B;B	0.28849	0.027;0.095;0.027	T	0.17228	-1.0376	10	0.49607	T	0.09	-14.9731	16.0351	0.80621	1.0:0.0:0.0:0.0	.	512;512;527	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	G	527;512;527	ENSP00000260970:S527G;ENSP00000386245:S512G;ENSP00000407083:S527G	ENSP00000260970:S527G	S	+	1	0	PPIG	170201593	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.777000	0.55364	2.186000	0.69663	0.533000	0.62120	AGT		0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			G	170493347	A	G	170493347	3	3	16	1	0	0	0	0	1	0	0	0	12327	304	11	4	1625	4	PPIG	2	170493347	Missense_Mutation	SNP	A	TCGA-04-1361-01A-01W-0494-09	3640825	170493347	72706026	11	842											
SETD5	55209	genome.wustl.edu	37	3	9475570	9475570	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr3:9475570G>A	ENST00000406341.1	+	3	303	c.113G>A	c.(112-114)aGc>aAc	p.S38N	SETD5_ENST00000402198.1_Missense_Mutation_p.S38N|SETD5_ENST00000407969.1_Missense_Mutation_p.S38N|SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000302463.6_5'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	38								p.S38N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AATGAGAAGAGCGTGTATTCC	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											183	181	182					3																	9475570		2012	4174	6186	9450570	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.113G>A	3.37:g.9475570G>A	ENSP00000383939:p.Ser38Asn		9450570	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	7.739	0.700900	0.15172	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000406341;ENST00000407969	T;D;D;D	0.91180	1.39;-2.8;-2.8;-2.73	6.07	5.1	0.69264	.	.	.	.	.	T	0.78916	0.4359	N	0.13003	0.285	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.71258	-0.4646	9	0.30854	T	0.27	-9.524	3.6319	0.08135	0.1665:0.2771:0.5563:0.0	.	38	Q9C0A6	SETD5_HUMAN	N	38	ENSP00000413786:S38N;ENSP00000385852:S38N;ENSP00000383939:S38N;ENSP00000384114:S38N	ENSP00000385852:S38N	S	+	2	0	SETD5	9450570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.234000	0.51320	2.890000	0.99128	0.585000	0.79938	AGC		0.453	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		A	9475570	G	A	9475570	3	1	16	1	0	0	0	0	1	0	0	0	14137	971	34	2	119	2	SETD5	3	9475570	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09		9475570	188546860	12	843											
XPC	7508	genome.wustl.edu	37	3	14211987	14211987	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr3:14211987G>T	ENST00000285021.7	-	3	577	c.363C>A	c.(361-363)gaC>gaA	p.D121E	XPC_ENST00000449060.2_Missense_Mutation_p.D121E	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	121	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.D121E(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCATTGCTGTCTTCATTCA	0.408			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"xeroderma pigmentosum, complementation group C"		E	1	Substitution - Missense(1)	ovary(1)	3											352	329	336					3																	14211987		1903	4127	6030	14186991	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.363C>A	3.37:g.14211987G>T	ENSP00000285021:p.Asp121Glu		14186991	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075085	0.36566	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.48201	0.82;0.82;0.82	5.65	1.32	0.21799	.	0.956661	0.08755	N	0.898545	T	0.18923	0.0454	N	0.08118	0	0.09310	N	1	B;B	0.34015	0.0;0.435	B;B	0.24541	0.001;0.054	T	0.11567	-1.0582	10	0.02654	T	1	-6.3837	6.6427	0.22919	0.2416:0.1264:0.632:0.0	.	121;121	E9PH69;Q01831	.;XPC_HUMAN	E	121;121;115	ENSP00000285021:D121E;ENSP00000404002:D121E;ENSP00000423867:D115E	ENSP00000285021:D121E	D	-	3	2	XPC	14186991	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.328000	0.07945	0.233000	0.21120	0.650000	0.86243	GAC		0.408	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		T	14211987	G	T	14211987	3	4	16	1	0	0	0	0	1	0	0	0	17441	1368	48	3	1464	3	XPC	3	14211987	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09	4736417	14211987	183810443	13	844											
CLASP2	23122	genome.wustl.edu	37	3	33543184	33543184	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr3:33543184T>A	ENST00000468888.2	-	38	4464	c.4418A>T	c.(4417-4419)gAt>gTt	p.D1473V	CLASP2_ENST00000359576.5_Missense_Mutation_p.D1464V|CLASP2_ENST00000480013.1_Missense_Mutation_p.D1252V|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000399362.4_Missense_Mutation_p.D1472V|CLASP2_ENST00000461133.3_Missense_Mutation_p.D1232V|CLASP2_ENST00000307312.7_Missense_Mutation_p.D954V			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1253					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.D1465V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTTTAGTTCATCACCAATTAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											136	131	132					3																	33543184		1948	4156	6104	33518188	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4418A>T	3.37:g.33543184T>A	ENSP00000419974:p.Asp1473Val		33518188	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.789410|4.789410	0.90367|0.90367	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133|ENST00000487553	T;T;T;T;T;T|.	0.68624|.	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.102341|.	0.64402|.	D|.	0.000002|.	T|.	0.56514|.	0.1990|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	P;P|.	0.41910|.	0.741;0.764|.	P;P|.	0.49829|.	0.448;0.623|.	T|.	0.53436|.	-0.8439|.	10|.	0.87932|.	D|.	0|.	-22.3423|-22.3423	14.5456|14.5456	0.68027|0.68027	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1464;1472|.	F5H604;E7ERI8|.	.;.|.	V|C	1473;1472;1464;954;1252;1232|178	ENSP00000419974:D1473V;ENSP00000382297:D1472V;ENSP00000352581:D1464V;ENSP00000304743:D954V;ENSP00000417518:D1252V;ENSP00000419305:D1232V|.	ENSP00000304743:D954V|.	D|X	-|-	2|3	0|0	CLASP2|CLASP2	33518188|33518188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.717000|7.717000	0.84732|0.84732	2.168000|2.168000	0.68352|0.68352	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.428	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		A	33543184	T	A	33543184	3	1	16	1	0	0	0	0	1	0	0	0	3455	1435	50	5	134	5	CLASP2	3	33543184	Missense_Mutation	SNP	T	TCGA-04-1361-01A-01W-0494-09	19331197	33543184	164479246	14	845											
POLQ	10721	genome.wustl.edu	37	3	121207401	121207401	+	Silent	SNP	T	T	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr3:121207401T>A	ENST00000264233.5	-	16	4505	c.4377A>T	c.(4375-4377)atA>atT	p.I1459I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1459					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.I1594I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAATCAGAAGTATAACTGGTT	0.318								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - coding silent(1)	ovary(1)	3											65	66	66					3																	121207401		2203	4299	6502	122690091	SO:0001819	synonymous_variant	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4377A>T	3.37:g.121207401T>A			122690091	O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																				0.318	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		A	121207401	T	A	121207401	2	1	16	1	0	0	0	0	0	0	0	1	12208	1628	57	5		5	POLQ	3	121207401	Silent	SNP	T	TCGA-04-1361-01A-01W-0494-09	87664217	121207401	76815029	15	846											
PDIA5	10954	genome.wustl.edu	37	3	122880170	122880170	+	Silent	SNP	T	T	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr3:122880170T>A	ENST00000316218.7	+	16	1442	c.1347T>A	c.(1345-1347)atT>atA	p.I449I	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	449	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)	p.I449I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GCTCCTAGATTGCCTGTGCCG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	3											97	87	90					3																	122880170		2203	4300	6503	124362860	SO:0001819	synonymous_variant	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1347T>A	3.37:g.122880170T>A			124362860	D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	CCDS3020.1																																																																																				0.562	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		A	122880170	T	A	122880170	2	1	16	1	0	0	0	0	0	0	0	1	11671	1800	63	5		5	PDIA5	3	122880170	Silent	SNP	T	TCGA-04-1361-01A-01W-0494-09	1672769	122880170	75142260	16	847											
EVC	2121	genome.wustl.edu	37	4	5733349	5733349	+	Silent	SNP	G	G	T	rs200101865		TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr4:5733349G>T	ENST00000264956.6	+	4	766	c.582G>T	c.(580-582)cgG>cgT	p.R194R	EVC_ENST00000509451.1_Silent_p.R194R|EVC_ENST00000382674.2_Silent_p.R194R	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	194					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R194R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCTTCCTCCGGGTGAACGCCT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	4											60	50	54					4																	5733349		2203	4300	6503	5784250	SO:0001819	synonymous_variant	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.582G>T	4.37:g.5733349G>T			5784250		Silent	SNP	ENST00000264956.6	37	CCDS3383.1																																																																																				0.627	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			T	5733349	G	T	5733349	2	4	16	1	0	0	0	0	0	0	0	1	5285	1219	43	3		3	EVC	4	5733349	Silent	SNP	G	TCGA-04-1361-01A-01W-0494-09		5733349	185420927	17	848											
GNPDA2	132789	genome.wustl.edu	37	4	44719163	44719163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr4:44719163T>A	ENST00000295448.3	-	4	532	c.376A>T	c.(376-378)Aaa>Taa	p.K126*	GNPDA2_ENST00000509756.1_Nonsense_Mutation_p.K126*|GNPDA2_ENST00000507917.1_Nonsense_Mutation_p.K92*|GNPDA2_ENST00000507534.1_Nonsense_Mutation_p.K56*|GNPDA2_ENST00000511187.1_Intron	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	126					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)	p.K126*(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						CCAGCTTCTTTTATTTTGTTT	0.299																																					Colon(54;743 1010 7604 16453 19544)											1	Substitution - Nonsense(1)	ovary(1)	4											81	83	82					4																	44719163		2202	4299	6501	44413920	SO:0001587	stop_gained	132789			AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"glucosamine-6-phosphate isomerase"	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.376A>T	4.37:g.44719163T>A	ENSP00000295448:p.Lys126*		44413920	B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Nonsense_Mutation	SNP	ENST00000295448.3	37	CCDS3469.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230552	0.58777	.	.	ENSG00000163281	ENST00000507917;ENST00000295448;ENST00000507534;ENST00000509756	.	.	.	5.84	0.552	0.17230	.	0.476670	0.24224	N	0.040409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4887	4.7216	0.12920	0.0:0.3133:0.1629:0.5238	.	.	.	.	X	92;126;56;126	.	ENSP00000295448:K126X	K	-	1	0	GNPDA2	44413920	0.863000	0.29885	0.974000	0.42286	0.195000	0.23768	0.360000	0.20250	0.492000	0.27815	0.482000	0.46254	AAA		0.299	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335		A	44719163	T	A	44719163	4	1	16	1	0	0	0	0	0	1	0	0	6543	1850	64	5	470	5	GNPDA2	4	44719163	Nonsense_Mutation	SNP	T	TCGA-04-1361-01A-01W-0494-09	38985814	44719163	146435113	18	849											
ACSL1	2180	genome.wustl.edu	37	4	185679025	185679025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr4:185679025C>T	ENST00000515030.1	-	19	2157	c.1832G>A	c.(1831-1833)tGg>tAg	p.W611*	ACSL1_ENST00000507295.1_Nonsense_Mutation_p.W577*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.W440*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.W611*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.W611*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.W440*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.W611*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	611					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.W611*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTTTGGGCCCAGGAACATAA	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	4											178	172	174					4																	185679025		2203	4300	6503	185916019	SO:0001587	stop_gained	2180			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1832G>A	4.37:g.185679025C>T	ENSP00000422607:p.Trp611*		185916019	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	37	6.240975	0.97403	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2421	19.8273	0.96622	0.0:1.0:0.0:0.0	.	.	.	.	X	440;611;207;611;577;440;611;611	.	ENSP00000281455:W611X	W	-	2	0	ACSL1	185916019	1.000000	0.71417	0.999000	0.59377	0.180000	0.23129	7.741000	0.84997	2.684000	0.91462	0.655000	0.94253	TGG		0.403	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		T	185679025	C	T	185679025	4	4	16	1	0	0	0	0	0	1	0	0	177	595	21	2	276	2	ACSL1	4	185679025	Nonsense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	140959862	185679025	5475251	19	850											
C5orf42	65250	genome.wustl.edu	37	5	37169590	37169590	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr5:37169590G>T	ENST00000508244.1	-	33	6629	c.6536C>A	c.(6535-6537)tCt>tAt	p.S2179Y	C5orf42_ENST00000425232.2_Missense_Mutation_p.S2179Y|C5orf42_ENST00000274258.7_Missense_Mutation_p.S1059Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2179						integral component of membrane (GO:0016021)		p.S1059Y(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAAGTTTTGAGATGATGGAAT	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											75	76	76					5																	37169590		2203	4300	6503	37205347	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6536C>A	5.37:g.37169590G>T	ENSP00000421690:p.Ser2179Tyr		37205347	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980334	0.74474	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26223	1.78;1.78;1.75;1.76	5.53	4.63	0.57726	.	0.528900	0.18498	N	0.139460	T	0.39462	0.1079	L	0.52573	1.65	0.09310	N	1	D;D	0.63046	0.986;0.992	P;P	0.62813	0.684;0.907	T	0.14643	-1.0465	10	0.87932	D	0	.	9.2506	0.37554	0.077:0.1459:0.7771:0.0	.	2179;1059	E9PH94;Q9H799	.;CE042_HUMAN	Y	2179;2179;1059;1227;1059	ENSP00000421690:S2179Y;ENSP00000389014:S2179Y;ENSP00000274258:S1059Y;ENSP00000424223:S1227Y	ENSP00000274258:S1059Y	S	-	2	0	C5orf42	37205347	0.034000	0.19679	0.813000	0.32504	0.193000	0.23685	1.220000	0.32491	2.587000	0.87381	0.655000	0.94253	TCT		0.408	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		T	37169590	G	T	37169590	3	4	16	1	0	0	0	0	1	0	0	0	2301	942	33	3	3133	3	C5orf42	5	37169590	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09		37169590	143745670	20	851											
GPR98	84059	genome.wustl.edu	37	5	90052961	90052961	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr5:90052961G>C	ENST00000405460.2	+	57	12019	c.11923G>C	c.(11923-11925)Gaa>Caa	p.E3975Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3975	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E3975Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATTCTTGAATTTGCAGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	5											79	80	80					5																	90052961		1874	4113	5987	90088717	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11923G>C	5.37:g.90052961G>C	ENSP00000384582:p.Glu3975Gln		90088717	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.462|5.462	0.270266|0.270266	0.10349|0.10349	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|T	0.27557|0.56776	1.66|0.44	5.08|5.08	1.14|1.14	0.20703|0.20703	Na-Ca exchanger/integrin-beta4 (2);|.	0.419851|.	0.28748|.	N|.	0.014271|.	T|T	0.46964|0.46964	0.1420|0.1420	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	B;B|.	0.28470|.	0.002;0.213|.	B;B|.	0.24974|.	0.009;0.057|.	T|T	0.42258|0.42258	-0.9462|-0.9462	10|7	0.23302|0.72032	T|D	0.38|0.01	.|.	4.7949|4.7949	0.13267|0.13267	0.4303:0.165:0.4047:0.0|0.4303:0.165:0.4047:0.0	.|.	3975;3975|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	Q|F	3975|1540	ENSP00000384582:E3975Q|ENSP00000422153:L1540F	ENSP00000296619:E3975Q|ENSP00000422153:L1540F	E|L	+|+	1|3	0|2	GPR98|GPR98	90088717|90088717	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.727000|0.727000	0.41649|0.41649	3.124000|3.124000	0.50461|0.50461	0.241000|0.241000	0.21283|0.21283	-0.373000|-0.373000	0.07131|0.07131	GAA|TTG		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90052961	G	C	90052961	3	2	16	1	0	0	0	0	1	0	0	0	6721	1291	45	3	12149	3	GPR98	5	90052961	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09	52883371	90052961	90862299	21	852											
AQPEP	206338	genome.wustl.edu	37	5	115336129	115336129	+	Splice_Site	SNP	G	G	C			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr5:115336129G>C	ENST00000357872.4	+	8	1639		c.e8-1		AQPEP_ENST00000395528.2_Splice_Site	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN								integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(1)									TTTTGTCCTAGGGAGCGTCTA	0.398																																																1	Unknown(1)	ovary(1)	5											140	135	136					5																	115336129		2202	4300	6502	115364028	SO:0001630	splice_region_variant	206338																														ENST00000357872.4:c.1516-1G>C	5.37:g.115336129G>C			115364028	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Splice_Site	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273176	0.59649	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0305	0.92955	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC010282.1	115364028	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.370000	0.79589	2.861000	0.98227	0.655000	0.94253	.		0.398	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		Intron	C	115336129	G	C	115336129	5	2	16	1	0	0	0	0	0	0	1	0	834	1014	35	3	1545	3	AQPEP	5	115336129	Splice_Site	SNP	G	TCGA-04-1361-01A-01W-0494-09	25283168	115336129	65579131	22	853											
SLC12A2	6558	genome.wustl.edu	37	5	127484533	127484533	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr5:127484533T>G	ENST00000262461.2	+	12	2158	c.1969T>G	c.(1969-1971)Tta>Gta	p.L657V	SLC12A2_ENST00000343225.4_Missense_Mutation_p.L657V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	657					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.L657V(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TGGCTACATCTTAACATTCTT	0.333																																																1	Substitution - Missense(1)	ovary(1)	5											189	188	188					5																	127484533		2203	4300	6503	127512432	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1969T>G	5.37:g.127484533T>G	ENSP00000262461:p.Leu657Val		127512432	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417656	0.62622	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98849	-5.18;-5.18	4.2	1.82	0.25136	Amino acid permease domain (1);	0.160682	0.42294	D	0.000729	D	0.98166	0.9394	M	0.70108	2.13	0.80722	D	1	D;D	0.58620	0.979;0.983	P;P	0.58077	0.742;0.832	D	0.96970	0.9708	10	0.87932	D	0	.	6.2846	0.21027	0.0:0.4518:0.0:0.5482	.	657;657	P55011-3;P55011	.;S12A2_HUMAN	V	657	ENSP00000262461:L657V;ENSP00000340878:L657V	ENSP00000262461:L657V	L	+	1	2	SLC12A2	127512432	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.228000	0.51270	0.419000	0.25927	-0.399000	0.06403	TTA		0.333	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		G	127484533	T	G	127484533	3	3	16	1	0	0	0	0	1	0	0	0	14386	1606	56	5	2015	5	SLC12A2	5	127484533	Missense_Mutation	SNP	T	TCGA-04-1361-01A-01W-0494-09	12148404	127484533	53430727	23	854											
PCDHGC5	56097	genome.wustl.edu	37	5	140869726	140869726	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr5:140869726C>A	ENST00000252087.1	+	1	919	c.919C>A	c.(919-921)Ccc>Acc	p.P307T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P307T(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTGGGTCCCATAGACTT	0.522																																																2	Substitution - Missense(2)	ovary(2)	5											98	96	97					5																	140869726		2203	4300	6503	140849910	SO:0001583	missense	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.919C>A	5.37:g.140869726C>A	ENSP00000252087:p.Pro307Thr		140849910	Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.374920	0.00207	.	.	ENSG00000240764	ENST00000252087	T	0.01629	4.72	5.95	3.23	0.37069	Cadherin (4);Cadherin-like (1);	0.236013	0.30428	N	0.009655	T	0.02267	0.0070	L	0.41710	1.295	0.09310	N	1	P;P	0.45715	0.865;0.814	B;P	0.48425	0.441;0.577	T	0.39522	-0.9610	10	0.11182	T	0.66	.	6.1341	0.20221	0.3695:0.4946:0.0:0.1359	.	307;307	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	T	307	ENSP00000252087:P307T	ENSP00000252087:P307T	P	+	1	0	PCDHGC5	140849910	0.000000	0.05858	0.292000	0.24919	0.000000	0.00434	0.082000	0.14847	0.418000	0.25898	-0.311000	0.09066	CCC		0.522	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		A	140869726	C	A	140869726	3	1	16	1	0	0	0	0	1	0	0	0	11571	855	30	3	921	3	PCDHGC5	5	140869726	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	13385193	140869726	40045534	24	855											
DNAH8	1769	genome.wustl.edu	37	6	38998056	38998056	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr6:38998056A>T	ENST00000359357.3	+	91	13615	c.13361A>T	c.(13360-13362)aAg>aTg	p.K4454M	DNAH8_ENST00000441566.1_Missense_Mutation_p.K4418M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4454					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K4454M(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTATTTACAAGAAACCCAGG	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											134	127	129					6																	38998056		2203	4300	6503	39106034	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13361A>T	6.37:g.38998056A>T	ENSP00000352312:p.Lys4454Met		39106034	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	25.7	4.661555	0.88154	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.10960	2.82;2.82;2.82	5.15	5.15	0.70609	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.34825	-0.9813	10	0.56958	D	0.05	.	14.9933	0.71406	1.0:0.0:0.0:0.0	.	4454	Q96JB1	DYH8_HUMAN	M	4659;4454;4418	ENSP00000333363:K4659M;ENSP00000352312:K4454M;ENSP00000402294:K4418M	ENSP00000333363:K4659M	K	+	2	0	DNAH8	39106034	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.303000	0.78871	1.943000	0.56356	0.528000	0.53228	AAG		0.502	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38998056	A	T	38998056	3	4	16	1	0	0	0	0	1	0	0	0	4607	72	3	5	13715	5	DNAH8	6	38998056	Missense_Mutation	SNP	A	TCGA-04-1361-01A-01W-0494-09		38998056	132117011	25	856											
PRPH2	5961	genome.wustl.edu	37	6	42690019	42690019	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr6:42690019T>A	ENST00000230381.5	-	1	293	c.54A>T	c.(52-54)caA>caT	p.Q18H		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	18					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.Q18H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GCCAGAGCCCTTGGGCCAACT	0.537																																																1	Substitution - Missense(1)	ovary(1)	6											80	76	77					6																	42690019		2203	4300	6503	42797997	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.54A>T	6.37:g.42690019T>A	ENSP00000230381:p.Gln18His		42797997	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811545	0.70797	.	.	ENSG00000112619	ENST00000230381	T	0.03496	3.91	5.61	-4.17	0.03857	.	0.105519	0.64402	N	0.000003	T	0.06371	0.0164	M	0.86953	2.85	0.47584	D	0.999464	D	0.76494	0.999	D	0.71184	0.972	T	0.33085	-0.9882	10	0.19590	T	0.45	.	8.8325	0.35093	0.1094:0.5105:0.0:0.3801	.	18	P23942	PRPH2_HUMAN	H	18	ENSP00000230381:Q18H	ENSP00000230381:Q18H	Q	-	3	2	PRPH2	42797997	0.982000	0.34865	0.971000	0.41717	0.944000	0.59088	0.234000	0.17930	-0.684000	0.05183	-0.274000	0.10170	CAA		0.537	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		A	42690019	T	A	42690019	3	1	16	1	0	0	0	0	1	0	0	0	12580	1606	56	5	998	5	PRPH2	6	42690019	Missense_Mutation	SNP	T	TCGA-04-1361-01A-01W-0494-09	3691963	42690019	128425048	26	857											
RIMS1	22999	genome.wustl.edu	37	6	72678727	72678727	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr6:72678727C>G	ENST00000521978.1	+	2	206	c.206C>G	c.(205-207)aCa>aGa	p.T69R	RIMS1_ENST00000517960.1_Missense_Mutation_p.T69R|RIMS1_ENST00000518273.1_Missense_Mutation_p.T69R|RIMS1_ENST00000522291.1_Missense_Mutation_p.T69R|RIMS1_ENST00000520567.1_Missense_Mutation_p.T69R|RIMS1_ENST00000491071.2_Missense_Mutation_p.T69R|RIMS1_ENST00000264839.7_Missense_Mutation_p.T69R|RIMS1_ENST00000348717.5_Missense_Mutation_p.T69R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	69	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.T69R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCTGCAAAACACCAAGAAAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											136	141	140					6																	72678727		1934	4135	6069	72735448	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.206C>G	6.37:g.72678727C>G	ENSP00000428417:p.Thr69Arg		72735448	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747525	0.49257	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.31	4.43	0.53597	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.08980	0.0222	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13202	-1.0518	9	0.19590	T	0.45	.	8.9071	0.35530	0.0:0.9008:0.0:0.0992	.	69	Q86UR5	RIMS1_HUMAN	R	69	ENSP00000430101:T69R;ENSP00000275037:T69R;ENSP00000264839:T69R;ENSP00000429959:T69R;ENSP00000430408:T69R;ENSP00000430502:T69R;ENSP00000430932:T69R;ENSP00000428417:T69R	ENSP00000264839:T69R	T	+	2	0	RIMS1	72735448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.149000	0.42244	2.458000	0.83093	0.655000	0.94253	ACA		0.458	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	72678727	C	G	72678727	3	3	16	1	0	0	0	0	1	0	0	0	13370	478	17	3	212	3	RIMS1	6	72678727	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	29988708	72678727	98436340	27	858											
DFNA5	1687	genome.wustl.edu	37	7	24784261	24784261	+	Silent	SNP	G	G	A	rs376703607		TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr7:24784261G>A	ENST00000342947.3	-	3	749	c.324C>T	c.(322-324)cgC>cgT	p.R108R	DFNA5_ENST00000409775.3_Silent_p.R108R|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	108					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)		p.R108R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGCTCTCTACGCGGCTGCTGC	0.552																																					GBM(78;184 1250 20134 20900 23600)											1	Substitution - coding silent(1)	ovary(1)	7						G	,,	0,4406		0,0,2203	94	86	89		324,,324	-11.4	0	7		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-5,coding-synonymous	DFNA5	NM_001127453.1,NM_001127454.1,NM_004403.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	108/497,,108/497	24784261	1,13005	2203	4300	6503	24750786	SO:0001819	synonymous_variant	1687			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.324C>T	7.37:g.24784261G>A			24750786	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	CCDS5389.1																																																																																				0.552	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		A	24784261	G	A	24784261	2	1	16	1	0	0	0	0	0	0	0	1	4454	1074	38	1		1	DFNA5	7	24784261	Silent	SNP	G	TCGA-04-1361-01A-01W-0494-09		24784261	134354402	28	859											
ABCB4	5244	genome.wustl.edu	37	7	87032469	87032469	+	Silent	SNP	C	C	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr7:87032469C>T	ENST00000265723.4	-	27	3747	c.3636G>A	c.(3634-3636)ctG>ctA	p.L1212L	ABCB4_ENST00000359206.3_Silent_p.L1205L|ABCB4_ENST00000545634.1_Silent_p.L1205L|ABCB4_ENST00000453593.1_Silent_p.L1158L|ABCB4_ENST00000358400.3_Silent_p.L1158L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1212	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L1205L(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTTCAGTATCCAGAGCTGATG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	7											165	147	153					7																	87032469		2203	4300	6503	86870405	SO:0001819	synonymous_variant	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3636G>A	7.37:g.87032469C>T			86870405	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	4.549	0.101961	0.08731	.	.	ENSG00000005471	ENST00000440025	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.56992	0.2023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55648	-0.8108	4	.	.	.	-8.5153	6.7088	0.23266	0.1489:0.7048:0.0:0.1463	.	.	.	.	R	17	.	.	G	-	1	0	ABCB4	86870405	0.993000	0.37304	1.000000	0.80357	0.721000	0.41392	0.367000	0.20382	2.614000	0.88457	0.561000	0.74099	GGA		0.428	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		T	87032469	C	T	87032469	2	4	16	1	0	0	0	0	0	0	0	1	43	581	21	2		2	ABCB4	7	87032469	Silent	SNP	C	TCGA-04-1361-01A-01W-0494-09	62248208	87032469	72106194	29	860											
UBE3C	9690	genome.wustl.edu	37	7	157041088	157041088	+	Silent	SNP	G	G	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr7:157041088G>A	ENST00000348165.5	+	19	2868	c.2508G>A	c.(2506-2508)gaG>gaA	p.E836E		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	836	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E836E(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGCTGGTGGAGCTGCCCTTTG	0.473																																																1	Substitution - coding silent(1)	ovary(1)	7											96	96	96					7																	157041088		2203	4300	6503	156733849	SO:0001819	synonymous_variant	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2508G>A	7.37:g.157041088G>A			156733849	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	CCDS34789.1																																																																																				0.473	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		A	157041088	G	A	157041088	2	1	16	1	0	0	0	0	0	0	0	1	16881	962	34	2		2	UBE3C	7	157041088	Silent	SNP	G	TCGA-04-1361-01A-01W-0494-09	70008619	157041088	2097575	30	861											
ST18	9705	genome.wustl.edu	37	8	53092685	53092685	+	Missense_Mutation	SNP	C	C	T	rs140681407	byFrequency	TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr8:53092685C>T	ENST00000276480.7	-	9	957	c.274G>A	c.(274-276)Gca>Aca	p.A92T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	92					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A92T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGCTACCTGCGGTAGAGTGA	0.517													C|||	18	0.00359425	0.0121	0.0029	5008	,	,		18446	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	8						C	THR/ALA	34,4372	38.4+/-70.7	0,34,2169	248	204	219		274	-1.9	0	8	dbSNP_134	219	0,8600		0,0,4300	yes	missense	ST18	NM_014682.2	58	0,34,6469	TT,TC,CC		0.0,0.7717,0.2614	benign	92/1048	53092685	34,12972	2203	4300	6503	53255238	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.274G>A	8.37:g.53092685C>T	ENSP00000276480:p.Ala92Thr		53255238	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	7.686	0.690134	0.15039	0.007717	0.0	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.44881	0.93;0.91	5.53	-1.91	0.07641	.	0.466924	0.23686	N	0.045577	T	0.13798	0.0334	L	0.31294	0.92	0.20873	N	0.999831	B	0.09022	0.002	B	0.04013	0.001	T	0.11891	-1.0569	10	0.12430	T	0.62	.	1.6647	0.02799	0.2947:0.3836:0.1378:0.184	.	92	O60284	ST18_HUMAN	T	92	ENSP00000276480:A92T;ENSP00000428521:A92T	ENSP00000276480:A92T	A	-	1	0	ST18	53255238	0.000000	0.05858	0.031000	0.17742	0.031000	0.12232	-0.327000	0.07955	-0.334000	0.08463	-0.137000	0.14449	GCA		0.517	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			T	53092685	C	T	53092685	3	4	16	1	0	0	0	0	1	0	0	0	15214	768	27	1	2941	1	ST18	8	53092685	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09		53092685	93271337	31	862											
CSMD3	114788	genome.wustl.edu	37	8	113323290	113323290	+	Missense_Mutation	SNP	C	C	A	rs564995042		TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr8:113323290C>A	ENST00000297405.5	-	50	8046	c.7802G>T	c.(7801-7803)cGa>cTa	p.R2601L	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2561L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2531L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2497L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2601	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2601Q(1)|p.R2561Q(1)|p.R2601L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAACAAGTCGGAATCCTCG	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						3	Substitution - Missense(3)	lung(2)|ovary(1)	8											164	134	144					8																	113323290		2203	4300	6503	113392466	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7802G>T	8.37:g.113323290C>A	ENSP00000297405:p.Arg2601Leu		113392466	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834520	0.91036	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.62	5.62	0.85841	Complement control module (2);Sushi/SCR/CCP (3);	0.199696	0.28273	N	0.015950	D	0.83917	0.5358	M	0.82193	2.58	0.49213	D	0.999763	P;P;D	0.89917	0.929;0.942;1.0	P;P;D	0.79784	0.611;0.787;0.993	D	0.84723	0.0741	10	0.54805	T	0.06	.	19.6449	0.95773	0.0:1.0:0.0:0.0	.	2497;2601;2561	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2561;2601;1871;2497;2531	ENSP00000345799:R2561L;ENSP00000297405:R2601L;ENSP00000341558:R1871L;ENSP00000412263:R2497L;ENSP00000343124:R2531L	ENSP00000297405:R2601L	R	-	2	0	CSMD3	113392466	1.000000	0.71417	0.997000	0.53966	0.780000	0.44128	3.338000	0.52128	2.628000	0.89032	0.655000	0.94253	CGA		0.493	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113323290	C	A	113323290	3	1	16	1	0	0	0	0	1	0	0	0	3946	884	31	3	3409	3	CSMD3	8	113323290	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	60230605	113323290	33040732	32	863											
FAM91A1	157769	genome.wustl.edu	37	8	124811838	124811838	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr8:124811838C>G	ENST00000334705.7	+	17	1885	c.1639C>G	c.(1639-1641)Cca>Gca	p.P547A	FAM91A1_ENST00000521166.1_Missense_Mutation_p.P547A	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	547								p.P547A(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACAAGGACCACCATCCCTTTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	8											158	138	144					8																	124811838		1863	4096	5959	124881019	SO:0001583	missense	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1639C>G	8.37:g.124811838C>G	ENSP00000335082:p.Pro547Ala		124881019	B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614154	0.87359	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.41065	1.01;1.01	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.81802	2.56	0.80722	D	1	P;P	0.52061	0.872;0.95	P;P	0.54431	0.495;0.752	T	0.62987	-0.6737	10	0.40728	T	0.16	.	19.138	0.93436	0.0:1.0:0.0:0.0	.	547;547	E7ER68;Q658Y4	.;F91A1_HUMAN	A	547	ENSP00000429491:P547A;ENSP00000335082:P547A	ENSP00000335082:P547A	P	+	1	0	FAM91A1	124881019	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.984000	0.70548	2.595000	0.87683	0.637000	0.83480	CCA		0.408	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		G	124811838	C	G	124811838	3	3	16	1	0	0	0	0	1	0	0	0	5651	507	18	3	1705	3	FAM91A1	8	124811838	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	11488548	124811838	21552184	33	864											
OMD	4958	genome.wustl.edu	37	9	95179146	95179146	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr9:95179146G>T	ENST00000375550.4	-	2	970	c.695C>A	c.(694-696)cCt>cAt	p.P232H	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	232					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.P232H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						AAGTGAAGAAGGCAAACCAGG	0.343			T	USP6	aneurysmal bone cysts																																		Dom	yes		9	9q22.31	4958	osteomodulin		M	1	Substitution - Missense(1)	ovary(1)	9											101	103	103					9																	95179146		2203	4300	6503	94218967	SO:0001583	missense	4958			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.695C>A	9.37:g.95179146G>T	ENSP00000364700:p.Pro232His		94218967	Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.432587	0.83776	.	.	ENSG00000127083	ENST00000375550	T	0.04917	3.53	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.23926	0.0579	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00028	-1.2298	10	0.87932	D	0	-13.6946	20.2148	0.98293	0.0:0.0:1.0:0.0	.	232	Q99983	OMD_HUMAN	H	232	ENSP00000364700:P232H	ENSP00000364700:P232H	P	-	2	0	OMD	94218967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.636000	0.83301	2.850000	0.98022	0.650000	0.86243	CCT		0.343	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		T	95179146	G	T	95179146	3	4	16	1	0	0	0	0	1	0	0	0	10865	1000	35	3	578	3	OMD	9	95179146	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09		95179146	46034285	34	865											
PSAP	5660	genome.wustl.edu	37	10	73581662	73581662	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr10:73581662G>A	ENST00000394936.3	-	8	1027	c.880C>T	c.(880-882)Cct>Tct	p.P294S	PSAP_ENST00000394934.1_Missense_Mutation_p.P296S			P07602	SAP_HUMAN	prosaposin	294					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)	p.P294S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TCCAGGGCAGGGATGACATTC	0.557																																																1	Substitution - Missense(1)	ovary(1)	10											106	96	100					10																	73581662		2203	4300	6503	73251668	SO:0001583	missense	5660			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.880C>T	10.37:g.73581662G>A	ENSP00000378394:p.Pro294Ser		73251668	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313302	0.60414	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.90004	-2.6;-2.6	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	L	0.47716	1.5	0.51012	D	0.999905	P	0.50443	0.935	P	0.44696	0.458	D	0.87290	0.2298	10	0.66056	D	0.02	-6.8764	11.8283	0.52280	0.0816:0.0:0.9184:0.0	.	294	P07602	SAP_HUMAN	S	294;294;297;296;300;220	ENSP00000378394:P294S;ENSP00000378392:P296S	ENSP00000350063:P297S	P	-	1	0	PSAP	73251668	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	3.135000	0.50546	2.691000	0.91804	0.655000	0.94253	CCT		0.557	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		A	73581662	G	A	73581662	3	1	16	1	0	0	0	0	1	0	0	0	12646	1232	43	2	722	2	PSAP	10	73581662	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09		73581662	61953085	35	866											
VTI1A	143187	genome.wustl.edu	37	10	114575107	114575107	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr10:114575107C>G	ENST00000393077.2	+	8	735	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	207					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)	p.L207V(1)	VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CATCACCATCCTGATGGCGAT	0.443			T	TCF7L2	colorectal																																		Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	1	Substitution - Missense(1)	ovary(1)	10											147	141	143					10																	114575107		2037	4191	6228	114565097	SO:0001583	missense	143187			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.619C>G	10.37:g.114575107C>G	ENSP00000376792:p.Leu207Val		114565097	A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	C	7.309	0.614530	0.14129	.	.	ENSG00000151532	ENST00000393077	.	.	.	5.89	5.89	0.94794	.	1.454920	0.05680	U	0.590273	T	0.43122	0.1233	N	0.16368	0.405	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13710	-1.0499	9	0.16896	T	0.51	-35.6971	9.5598	0.39362	0.2403:0.568:0.1917:0.0	.	207	Q5W0D7	.	V	207	.	ENSP00000376792:L207V	L	+	1	2	VTI1A	114565097	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.956000	0.40382	2.797000	0.96272	0.563000	0.77884	CTG		0.443	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			G	114575107	C	G	114575107	3	3	16	1	0	0	0	0	1	0	0	0	17235	680	24	3	649	3	VTI1A	10	114575107	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	40993445	114575107	20959640	36	867											
MOGAT2	80168	genome.wustl.edu	37	11	75428949	75428949	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr11:75428949C>A	ENST00000198801.5	+	1	86	c.16C>A	c.(16-18)Ccc>Acc	p.P6T	MOGAT2_ENST00000526712.1_5'Flank	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	6					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.P6T(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGAGTTCGCGCCCTTGTTTAT	0.582																																																1	Substitution - Missense(1)	ovary(1)	11											110	79	89					11																	75428949		2200	4293	6493	75106597	SO:0001583	missense	80168			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.16C>A	11.37:g.75428949C>A	ENSP00000198801:p.Pro6Thr		75106597	A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822896	0.71028	.	.	ENSG00000166391	ENST00000198801	T	0.50548	0.74	4.87	2.85	0.33270	.	0.060631	0.64402	D	0.000002	T	0.70046	0.3179	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72740	-0.4202	10	0.87932	D	0	0.1611	7.3377	0.26619	0.1672:0.7407:0.0:0.0921	.	6;6	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	T	6	ENSP00000198801:P6T	ENSP00000198801:P6T	P	+	1	0	MOGAT2	75106597	0.954000	0.32549	0.021000	0.16686	0.427000	0.31564	2.605000	0.46283	1.166000	0.42689	0.557000	0.71058	CCC		0.582	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		A	75428949	C	A	75428949	3	1	16	1	0	0	0	0	1	0	0	0	9695	739	26	3	18	3	MOGAT2	11	75428949	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09		75428949	59577567	37	868											
MOGAT2	80168	genome.wustl.edu	37	11	75439119	75439119	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr11:75439119G>A	ENST00000198801.5	+	4	650	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	MOGAT2_ENST00000526712.1_Missense_Mutation_p.A112T	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	194					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.A194T(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGCCCTGGATGCCAGGCCTGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	11											61	54	56					11																	75439119		2200	4293	6493	75116767	SO:0001583	missense	80168			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.580G>A	11.37:g.75439119G>A	ENSP00000198801:p.Ala194Thr		75116767	A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757584	0.69648	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.16457	2.34;2.34	5.93	4.03	0.46877	.	0.049565	0.85682	D	0.000000	T	0.29850	0.0746	L	0.49256	1.55	0.80722	D	1	D;D	0.64830	0.96;0.994	P;P	0.61874	0.764;0.895	T	0.01004	-1.1484	10	0.46703	T	0.11	-3.2987	10.0458	0.42186	0.0717:0.0:0.7906:0.1377	.	194;194	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	T	194;112	ENSP00000198801:A194T;ENSP00000436283:A112T	ENSP00000198801:A194T	A	+	1	0	MOGAT2	75116767	1.000000	0.71417	0.570000	0.28473	0.943000	0.58893	3.633000	0.54295	0.816000	0.34421	0.561000	0.74099	GCC		0.587	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		A	75439119	G	A	75439119	3	1	16	1	0	0	0	0	1	0	0	0	9695	1319	46	2	594	2	MOGAT2	11	75439119	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09	10170	75439119	59567397	38	869											
NPAT	4863	genome.wustl.edu	37	11	108032261	108032261	+	Silent	SNP	T	T	C			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr11:108032261T>C	ENST00000278612.8	-	17	3657	c.3552A>G	c.(3550-3552)tcA>tcG	p.S1184S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1184					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S1184S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TAGATAGTTTTGAATTTTCTG	0.363																																																1	Substitution - coding silent(1)	ovary(1)	11											218	210	213					11																	108032261		1810	4082	5892	107537471	SO:0001819	synonymous_variant	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3552A>G	11.37:g.108032261T>C			107537471	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.664828	0.00765	.	.	ENSG00000149308	ENST00000527296	.	.	.	6.07	-6.58	0.01836	.	.	.	.	.	T	0.19005	0.0456	.	.	.	0.22787	N	0.998734	.	.	.	.	.	.	T	0.30208	-0.9986	4	.	.	.	-0.7448	4.8714	0.13635	0.0706:0.1956:0.1982:0.5356	.	.	.	.	R	183	.	.	Q	-	2	0	NPAT	107537471	0.098000	0.21812	0.234000	0.24042	0.014000	0.08584	-0.539000	0.06113	-1.012000	0.03387	-1.894000	0.00533	CAA		0.363	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		C	108032261	T	C	108032261	2	2	16	1	0	0	0	0	0	0	0	1	10566	1799	63	4		4	NPAT	11	108032261	Silent	SNP	T	TCGA-04-1361-01A-01W-0494-09	32593142	108032261	26974255	39	870											
ITPR2	3709	genome.wustl.edu	37	12	26572092	26572092	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr12:26572092T>G	ENST00000381340.3	-	50	7416	c.7000A>C	c.(7000-7002)Acc>Ccc	p.T2334P	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2334					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.T2334P(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TACCCACGGGTGAACGTGCCA	0.433																																																1	Substitution - Missense(1)	ovary(1)	12											92	92	92					12																	26572092		1978	4161	6139	26463359	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7000A>C	12.37:g.26572092T>G	ENSP00000370744:p.Thr2334Pro		26463359	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334787	0.81801	.	.	ENSG00000123104	ENST00000381340	D	0.92199	-2.99	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.94026	0.8086	L	0.49778	1.585	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	D	0.92801	0.6256	10	0.30078	T	0.28	.	15.2716	0.73705	0.0:0.0:0.0:1.0	.	2334	Q14571	ITPR2_HUMAN	P	2334	ENSP00000370744:T2334P	ENSP00000370744:T2334P	T	-	1	0	ITPR2	26463359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.104000	0.71498	2.193000	0.70182	0.533000	0.62120	ACC		0.433	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		G	26572092	T	G	26572092	3	3	16	1	0	0	0	0	1	0	0	0	7921	1696	59	5	1137	5	ITPR2	12	26572092	Missense_Mutation	SNP	T	TCGA-04-1361-01A-01W-0494-09		26572092	107279803	40	871											
OR4E2	26686	genome.wustl.edu	37	14	22134199	22134199	+	Silent	SNP	C	C	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr14:22134199C>G	ENST00000408935.1	+	1	903	c.903C>G	c.(901-903)ctC>ctG	p.L301L		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L301L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGAAGCAGCTCAGGCAGAGAC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	14											45	41	42					14																	22134199		1943	4157	6100	21204039	SO:0001819	synonymous_variant	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.903C>G	14.37:g.22134199C>G			21204039	Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	CCDS41916.1																																																																																				0.423	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			G	22134199	C	G	22134199	2	3	16	1	0	0	0	0	0	0	0	1	11060	813	29	3		3	OR4E2	14	22134199	Silent	SNP	C	TCGA-04-1361-01A-01W-0494-09		22134199	85215341	41	872											
MEFV	4210	genome.wustl.edu	37	16	3299648	3299648	+	Missense_Mutation	SNP	C	C	T	rs104895198		TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr16:3299648C>T	ENST00000219596.1	-	3	1082	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	MEFV_ENST00000536379.1_Missense_Mutation_p.R137H|MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	348					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCCAGGTGAGCGGCTGCCTGA	0.657													C|||	1	0.000199681	0	0	5008	,	,		16808	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	16						C	HIS/ARG,HIS/ARG	1,4391	2.1+/-5.4	0,1,2195	25	28	27	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1043,410	-8.2	0	16	dbSNP_132	27	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	MEFV	NM_000243.2,NM_001198536.1	29,29	0,4,6492	TT,TC,CC		0.0349,0.0228,0.0308	possibly-damaging,possibly-damaging	348/782,137/446	3299648	4,12988	2196	4300	6496	3239649	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1043G>A	16.37:g.3299648C>T	ENSP00000219596:p.Arg348His		3239649	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253552	0.10185	2.28E-4	3.49E-4	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64618	-0.11;0.32;0.22;0.33	4.11	-8.23	0.01033	.	2.533260	0.01059	N	0.004617	T	0.41971	0.1182	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43410	-0.9393	10	0.33141	T	0.24	-27.6587	14.814	0.70017	0.0:0.7071:0.1089:0.184	.	348	O15553	MEFV_HUMAN	H	348;348;168;137;137;137	ENSP00000219596:R348H;ENSP00000339639:R168H;ENSP00000438711:R137H;ENSP00000445079:R137H	ENSP00000219596:R348H	R	-	2	0	MEFV	3239649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.762000	0.00373	-2.922000	0.00304	-0.251000	0.11542	CGC		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3299648	C	T	3299648	3	4	16	1	0	0	0	0	1	0	0	0	9459	768	27	1	1334	1	MEFV	16	3299648	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09		3299648	87055105	42	873											
MYH11	4629	genome.wustl.edu	37	16	15835615	15835615	+	Splice_Site	SNP	A	A	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr16:15835615A>T	ENST00000300036.5	-	21	2762		c.e21+1		MYH11_ENST00000452625.2_Splice_Site|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000396324.3_Splice_Site|MYH11_ENST00000576790.2_Splice_Site	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle						axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.?(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCATACAGGTACCTGCGAGTG	0.612			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	1	Unknown(1)	ovary(1)	16											269	209	229					16																	15835615		2197	4300	6497	15743116	SO:0001630	splice_region_variant	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2652+1T>A	16.37:g.15835615A>T			15743116	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Splice_Site	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100907	0.76983	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0215	0.64558	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH11	15743116	1.000000	0.71417	0.896000	0.35187	0.951000	0.60555	6.861000	0.75478	1.915000	0.55452	0.459000	0.35465	.		0.612	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	Intron	T	15835615	A	T	15835615	5	4	16	1	0	0	0	0	0	0	1	0	10031	405	14	5	3383	5	MYH11	16	15835615	Splice_Site	SNP	A	TCGA-04-1361-01A-01W-0494-09	12535967	15835615	74519138	43	874											
DNAH3	55567	genome.wustl.edu	37	16	21063050	21063050	+	Silent	SNP	A	A	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr16:21063050A>G	ENST00000261383.3	-	29	4178	c.4179T>C	c.(4177-4179)taT>taC	p.Y1393Y	DNAH3_ENST00000415178.1_Silent_p.Y1393Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1393	AAA 1. {ECO:0000250}.			Y -> F (in Ref. 4; CAA10558). {ECO:0000305}.	cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.Y1393Y(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGGTACTCATAGCCATACA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	16											122	121	121					16																	21063050		2201	4300	6501	20970551	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4179T>C	16.37:g.21063050A>G			20970551	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		G	21063050	A	G	21063050	2	3	16	1	0	0	0	0	0	0	0	1	4603	224	8	4		4	DNAH3	16	21063050	Silent	SNP	A	TCGA-04-1361-01A-01W-0494-09	5227435	21063050	69291703	44	875											
NUP93	9688	genome.wustl.edu	37	16	56866216	56866216	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr16:56866216G>T	ENST00000308159.5	+	12	1382	c.1261G>T	c.(1261-1263)Gtg>Ttg	p.V421L	NUP93_ENST00000542526.1_Missense_Mutation_p.V298L|NUP93_ENST00000569842.1_Missense_Mutation_p.V421L|NUP93_ENST00000564887.1_Missense_Mutation_p.V298L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	421					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.V421L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTTGAACCAAGTGTGTTTTGA	0.478																																					Colon(33;610 796 1305 1705 38917)											1	Substitution - Missense(1)	ovary(1)	16											181	166	171					16																	56866216		2198	4300	6498	55423717	SO:0001583	missense	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1261G>T	16.37:g.56866216G>T	ENSP00000310668:p.Val421Leu		55423717	B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872889	0.91664	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.43688	0.94;0.94	6.03	5.07	0.68467	.	0.052556	0.85682	D	0.000000	T	0.34513	0.0900	L	0.28556	0.865	0.80722	D	1	B	0.31548	0.328	B	0.33568	0.166	T	0.10706	-1.0618	10	0.34782	T	0.22	-20.3252	15.1765	0.72916	0.0673:0.0:0.9327:0.0	.	421	Q8N1F7	NUP93_HUMAN	L	421;298	ENSP00000310668:V421L;ENSP00000440235:V298L	ENSP00000310668:V421L	V	+	1	0	NUP93	55423717	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.687000	0.98667	1.547000	0.49401	0.655000	0.94253	GTG		0.478	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		T	56866216	G	T	56866216	3	4	16	1	0	0	0	0	1	0	0	0	10772	1029	36	3	1303	3	NUP93	16	56866216	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09	35803166	56866216	33488537	45	876											
TP53	7157	genome.wustl.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	CATGTAGTTGTAGTGGATGGT	0.572		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"	141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	17	GRCh37	CM035576	TP53	M							119	95	103					17																	7577580		2203	4300	6503	7518305	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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys		7518305	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	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577580	T	C	7577580	3	2	16	1	0	0	0	0	1	0	0	0	16381	1638	57	4	589	4	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-04-1361-01A-01W-0494-09		7577580	73617630	46	877											
MYO18A	399687	genome.wustl.edu	37	17	27417887	27417887	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr17:27417887C>G	ENST00000527372.1	-	35	5425	c.5245G>C	c.(5245-5247)Gag>Cag	p.E1749Q	MYO18A_ENST00000531253.1_Missense_Mutation_p.E1749Q|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1749Q|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1712Q|MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1749					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.E1749Q(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGATCTTCCTCCAGCCGGTTC	0.582																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											1	Substitution - Missense(1)	ovary(1)	17											179	175	176					17																	27417887		2068	4215	6283	24442013	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5245G>C	17.37:g.27417887C>G	ENSP00000437073:p.Glu1749Gln		24442013	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976249	0.53720	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	T;D;T;T	0.83673	-1.42;-1.75;-1.42;-1.42	4.93	3.95	0.45737	Myosin tail (1);	0.047186	0.85682	D	0.000000	D	0.90324	0.6973	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.76494	0.976;0.999;0.998;0.999	P;D;P;D	0.70487	0.743;0.943;0.898;0.969	D	0.91686	0.5362	10	0.66056	D	0.02	.	15.3615	0.74478	0.0:0.8597:0.1403:0.0	.	1352;1712;1749;1749	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	Q	1749;1712;1712;1749;1749;645;645;1352;30	ENSP00000346291:E1749Q;ENSP00000435932:E1712Q;ENSP00000434228:E1749Q;ENSP00000437073:E1749Q	ENSP00000346291:E1749Q	E	-	1	0	MYO18A	24442013	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	7.261000	0.78400	1.423000	0.47198	-0.176000	0.13171	GAG		0.582	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		G	27417887	C	G	27417887	3	3	16	1	0	0	0	0	1	0	0	0	10065	864	30	3	951	3	MYO18A	17	27417887	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	19840307	27417887	53777323	47	878											
CHST9	83539	genome.wustl.edu	37	18	24496327	24496327	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr18:24496327C>T	ENST00000284224.8	-	6	1505	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M	AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.V410M|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	410					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.V410M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TACTGTCTCACGACTTGAGCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	18											143	133	136					18																	24496327		1843	4088	5931	22750325	SO:0001583	missense	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1228G>A	18.37:g.24496327C>T	ENSP00000284224:p.Val410Met		22750325	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.040034	0.55003	.	.	ENSG00000154080	ENST00000284224	T	0.74632	-0.86	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000009	T	0.78868	0.4351	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.79708	-0.1690	10	0.66056	D	0.02	-17.2963	13.8057	0.63230	0.0:0.9305:0.0:0.0695	.	410	Q7L1S5	CHST9_HUMAN	M	410	ENSP00000284224:V410M	ENSP00000284224:V410M	V	-	1	0	CHST9	22750325	1.000000	0.71417	0.970000	0.41538	0.885000	0.51271	4.492000	0.60334	2.885000	0.99019	0.655000	0.94253	GTG		0.348	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		T	24496327	C	T	24496327	3	4	16	1	0	0	0	0	1	0	0	0	3411	536	19	1	107	1	CHST9	18	24496327	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09		24496327	53580921	48	879											
RDH8	50700	genome.wustl.edu	37	19	10127889	10127889	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr19:10127889T>A	ENST00000171214.1	+	2	509	c.260T>A	c.(259-261)cTg>cAg	p.L87Q	RDH8_ENST00000591589.1_Missense_Mutation_p.L107Q	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	87					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.L87Q(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGGACGTGCTGGGTGAGACT	0.582																																																1	Substitution - Missense(1)	ovary(1)	19											71	63	66					19																	10127889		2203	4300	6503	9988889	SO:0001583	missense	50700			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.260T>A	19.37:g.10127889T>A	ENSP00000171214:p.Leu87Gln		9988889	Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37		.	.	.	.	.	.	.	.	.	.	T	22.1	4.249234	0.80024	.	.	ENSG00000080511	ENST00000171214	D	0.96856	-4.15	4.77	4.77	0.60923	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.98874	0.9619	H	0.98833	4.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98939	1.0790	10	0.87932	D	0	.	12.2696	0.54697	0.0:0.0:0.0:1.0	.	87	Q9NYR8	RDH8_HUMAN	Q	87	ENSP00000171214:L87Q	ENSP00000171214:L87Q	L	+	2	0	RDH8	9988889	1.000000	0.71417	0.978000	0.43139	0.913000	0.54294	7.509000	0.81698	1.780000	0.52325	0.533000	0.62120	CTG		0.582	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				A	10127889	T	A	10127889	3	1	16	1	0	0	0	0	1	0	0	0	13199	1580	55	5	266	5	RDH8	19	10127889	Missense_Mutation	SNP	T	TCGA-04-1361-01A-01W-0494-09		10127889	49001094	49	880											
EPS15L1	58513	genome.wustl.edu	37	19	16472718	16472718	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr19:16472718C>G	ENST00000248070.6	-	23	2597	c.2458G>C	c.(2458-2460)Gac>Cac	p.D820H	EPS15L1_ENST00000455140.2_Missense_Mutation_p.D820H|EPS15L1_ENST00000535753.2_3'UTR|EPS15L1_ENST00000594975.1_3'UTR	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	820	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D820H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCGCCGCTGTCAGCCCCGAGT	0.527																																																1	Substitution - Missense(1)	ovary(1)	19											32	40	38					19																	16472718		2203	4300	6503	16333718	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2458G>C	19.37:g.16472718C>G	ENSP00000248070:p.Asp820His		16333718	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846938	0.91277	.	.	ENSG00000127527	ENST00000455140;ENST00000248070	T;T	0.55052	0.54;0.54	4.96	4.96	0.65561	.	0.110075	0.64402	D	0.000011	T	0.60534	0.2276	L	0.47716	1.5	0.80722	D	1	D;P	0.54397	0.966;0.911	P;P	0.54401	0.751;0.66	T	0.62812	-0.6775	10	0.52906	T	0.07	.	17.192	0.86882	0.0:1.0:0.0:0.0	.	820;820	Q9UBC2;G3V0H2	EP15R_HUMAN;.	H	820	ENSP00000393313:D820H;ENSP00000248070:D820H	ENSP00000248070:D820H	D	-	1	0	EPS15L1	16333718	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.335000	0.79234	2.318000	0.78349	0.561000	0.74099	GAC		0.527	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		G	16472718	C	G	16472718	3	3	16	1	0	0	0	0	1	0	0	0	5193	826	29	3	140	3	EPS15L1	19	16472718	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	6344829	16472718	42656265	50	881											
PDE4C	5143	genome.wustl.edu	37	19	18327666	18327666	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr19:18327666A>G	ENST00000355502.3	-	16	2241	c.1370T>C	c.(1369-1371)cTg>cCg	p.L457P	PDE4C_ENST00000447275.3_Missense_Mutation_p.L351P|PDE4C_ENST00000262805.12_Missense_Mutation_p.L425P|PDE4C_ENST00000539010.1_Missense_Mutation_p.L226P|PDE4C_ENST00000597297.1_Missense_Mutation_p.L227P|PDE4C_ENST00000598111.2_Missense_Mutation_p.L172P|PDE4C_ENST00000594617.3_Missense_Mutation_p.L457P|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Missense_Mutation_p.L457P			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	457					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.L457P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ATGGTTCTCCAGCACCGAGGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											92	85	87					19																	18327666		2203	4300	6503	18188666	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1370T>C	19.37:g.18327666A>G	ENSP00000347689:p.Leu457Pro		18188666	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	a	16.10	3.028077	0.54790	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.52	4.52	0.55395	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000004	D	0.96599	0.8890	H	0.99058	4.415	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.989	D	0.97267	0.9908	10	0.87932	D	0	.	11.8181	0.52222	1.0:0.0:0.0:0.0	.	457;425;263;172	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	P	536;457;445;425;351;263;171;226;566	ENSP00000347689:L457P;ENSP00000262805:L425P;ENSP00000402091:L351P;ENSP00000439470:L226P	ENSP00000262805:L425P	L	-	2	0	PDE4C	18188666	1.000000	0.71417	0.996000	0.52242	0.229000	0.25112	8.803000	0.91915	1.682000	0.51000	0.392000	0.25879	CTG		0.592	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			G	18327666	A	G	18327666	3	3	16	1	0	0	0	0	1	0	0	0	11641	188	7	4	784	4	PDE4C	19	18327666	Missense_Mutation	SNP	A	TCGA-04-1361-01A-01W-0494-09	1854948	18327666	40801317	51	882											
TMEM59L	25789	genome.wustl.edu	37	19	18727888	18727888	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr19:18727888C>A	ENST00000600490.1	+	6	825	c.640C>A	c.(640-642)Cct>Act	p.P214T	TMEM59L_ENST00000262817.3_Missense_Mutation_p.P214T			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	214						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P214T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGGCTCCCACCCTGAAGCCCT	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											60	59	59					19																	18727888		2203	4300	6503	18588888	SO:0001583	missense	25789			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.640C>A	19.37:g.18727888C>A	ENSP00000470879:p.Pro214Thr		18588888		Missense_Mutation	SNP	ENST00000600490.1	37	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197444	0.58126	.	.	ENSG00000105696	ENST00000262817	T	0.50001	0.76	3.36	3.36	0.38483	.	0.515351	0.21006	N	0.081774	T	0.44540	0.1298	L	0.40543	1.245	0.34792	D	0.735819	D	0.53312	0.959	P	0.49085	0.6	T	0.52961	-0.8505	10	0.24483	T	0.36	-12.4126	13.0226	0.58796	0.0:1.0:0.0:0.0	.	214	Q9UK28	TM59L_HUMAN	T	214	ENSP00000262817:P214T	ENSP00000262817:P214T	P	+	1	0	TMEM59L	18588888	0.888000	0.30383	0.997000	0.53966	0.955000	0.61496	2.471000	0.45127	2.201000	0.70794	0.462000	0.41574	CCT		0.642	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			A	18727888	C	A	18727888	3	1	16	1	0	0	0	0	1	0	0	0	16186	623	22	3	658	3	TMEM59L	19	18727888	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	400222	18727888	40401095	52	883											
NLRP13	126204	genome.wustl.edu	37	19	56407362	56407362	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr19:56407362C>A	ENST00000342929.3	-	11	3080	c.3081G>T	c.(3079-3081)atG>atT	p.M1027I	NLRP13_ENST00000588751.1_Missense_Mutation_p.M1027I	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	1027							ATP binding (GO:0005524)	p.M1027I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCTTACATAGCATCTTGACAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	19											197	184	188					19																	56407362		2203	4300	6503	61099174	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.3081G>T	19.37:g.56407362C>A	ENSP00000343891:p.Met1027Ile		61099174	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992605	0.02162	.	.	ENSG00000173572	ENST00000342929	T	0.51574	0.7	2.85	-4.85	0.03142	.	.	.	.	.	T	0.18800	0.0451	N	0.04132	-0.27	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31752	-0.9932	9	0.11182	T	0.66	.	8.0696	0.30680	0.0:0.3343:0.0:0.6657	.	1027	Q86W25	NAL13_HUMAN	I	1027	ENSP00000343891:M1027I	ENSP00000343891:M1027I	M	-	3	0	NLRP13	61099174	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.835000	0.01692	-1.107000	0.03004	-0.469000	0.05056	ATG		0.473	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56407362	C	A	56407362	3	1	16	1	0	0	0	0	1	0	0	0	10475	710	25	3	52	3	NLRP13	19	56407362	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	37679474	56407362	2721621	53	884											
ZNF304	57343	genome.wustl.edu	37	19	57867886	57867886	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr19:57867886T>C	ENST00000282286.5	+	3	822	c.649T>C	c.(649-651)Tat>Cat	p.Y217H	ZNF304_ENST00000391705.3_Missense_Mutation_p.Y217H|ZNF304_ENST00000443917.2_Missense_Mutation_p.Y264H|ZNF304_ENST00000598744.1_Missense_Mutation_p.Y175H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y217H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CCAAGGAGACTATGATGGACA	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											108	87	94					19																	57867886		2203	4300	6503	62559698	SO:0001583	missense	57343			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.649T>C	19.37:g.57867886T>C	ENSP00000282286:p.Tyr217His		62559698		Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	t	0.167	-1.075261	0.01903	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.06068	3.35;3.35;3.35	3.45	-0.0844	0.13690	.	.	.	.	.	T	0.00754	0.0025	N	0.00014	-2.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46400	-0.9194	9	0.02654	T	1	.	4.5128	0.11919	0.1724:0.6023:0.0:0.2253	.	217;264	Q9HCX3;E7EQD3	ZN304_HUMAN;.	H	217;217;264	ENSP00000282286:Y217H;ENSP00000375586:Y217H;ENSP00000401642:Y264H	ENSP00000282286:Y217H	Y	+	1	0	ZNF304	62559698	0.000000	0.05858	0.005000	0.12908	0.382000	0.30200	-0.052000	0.11865	0.059000	0.16252	0.451000	0.29950	TAT		0.507	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			C	57867886	T	C	57867886	3	2	16	1	0	0	0	0	1	0	0	0	17833	1522	53	4	659	4	ZNF304	19	57867886	Missense_Mutation	SNP	T	TCGA-04-1361-01A-01W-0494-09	1460524	57867886	1261097	54	885											
C20orf70	140683	genome.wustl.edu	37	20	31760758	31760758	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr20:31760758G>A	ENST00000253362.2	+	3	324	c.178G>A	c.(178-180)Gtc>Atc	p.V60I	BPIFA2_ENST00000354932.5_Missense_Mutation_p.V60I			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	60						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)	p.V60I(1)									GAAACTGAAGGTCGACCTAGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	20											87	81	83					20																	31760758		2203	4300	6503	31224419	SO:0001583	missense	140683			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.178G>A	20.37:g.31760758G>A	ENSP00000253362:p.Val60Ile		31224419	Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	G	9.892	1.204604	0.22205	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.12147	2.71;2.71	3.87	-2.35	0.06684	.	3.678570	0.00769	N	0.001199	T	0.09905	0.0243	L	0.44542	1.39	0.09310	N	1	P	0.34462	0.454	B	0.31191	0.125	T	0.15636	-1.0430	10	0.21540	T	0.41	-25.5462	1.5524	0.02578	0.2066:0.3529:0.2929:0.1476	.	60	Q96DR5	BPIA2_HUMAN	I	60	ENSP00000253362:V60I;ENSP00000347012:V60I	ENSP00000253362:V60I	V	+	1	0	BPIFA2	31224419	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.856000	0.04290	-0.359000	0.08150	0.561000	0.74099	GTC		0.488	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		A	31760758	G	A	31760758	3	1	16	1	0	0	0	0	1	0	0	0	2116	1261	44	2	184	2	C20orf70	20	31760758	Missense_Mutation	SNP	G	TCGA-04-1361-01A-01W-0494-09		31760758	31264762	55	886											
TRAPPC10	7109	genome.wustl.edu	37	21	45451972	45451972	+	Splice_Site	SNP	G	G	A			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr21:45451972G>A	ENST00000291574.4	+	2	243	c.68G>A	c.(67-69)tGt>tAt	p.C23Y	TRAPPC10_ENST00000380221.3_Splice_Site_p.C23Y	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	23					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.C23Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCCTTCATAGGTGCTGGAGAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	21											169	168	168					21																	45451972		2203	4300	6503	44276400	SO:0001630	splice_region_variant	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.68-1G>A	21.37:g.45451972G>A			44276400	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	4.917	0.170485	0.09391	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.26223	1.75;1.75	5.51	5.51	0.81932	.	0.206543	0.42682	U	0.000661	T	0.16896	0.0406	N	0.12746	0.255	0.58432	D	0.999996	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09357	-1.0678	9	.	.	.	.	19.0536	0.93054	0.0:0.0:1.0:0.0	.	23;23	P48553;Q86SI7	TPC10_HUMAN;.	Y	23	ENSP00000369570:C23Y;ENSP00000291574:C23Y	.	C	+	2	0	TRAPPC10	44276400	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.298000	0.78815	2.587000	0.87381	0.655000	0.94253	TGT		0.363	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	Missense_Mutation	A	45451972	G	A	45451972	5	1	16	1	0	0	0	0	0	0	1	0	16457	1275	44	2	74	2	TRAPPC10	21	45451972	Splice_Site	SNP	G	TCGA-04-1361-01A-01W-0494-09		45451972	2677923	56	887											
DEPDC5	9681	genome.wustl.edu	37	22	32206507	32206507	+	Splice_Site	SNP	C	C	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr22:32206507C>T	ENST00000382112.3	+	19	1395	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F	DEPDC5_ENST00000535622.1_Splice_Site_p.S442F|DEPDC5_ENST00000400242.3_Splice_Site_p.S442F|DEPDC5_ENST00000382105.2_Splice_Site_p.S442F|DEPDC5_ENST00000266091.3_Splice_Site_p.S442F|DEPDC5_ENST00000400249.2_Splice_Site_p.S442F|DEPDC5_ENST00000400246.1_Splice_Site_p.S442F|DEPDC5_ENST00000536766.1_Splice_Site_p.S414F|DEPDC5_ENST00000400248.2_Splice_Site_p.S442F|DEPDC5_ENST00000382111.2_Splice_Site_p.S442F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	442					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.S442F(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTATTTCAGCTCTCGGGAGT	0.418																																																1	Substitution - Missense(1)	ovary(1)	22											73	68	70					22																	32206507		1824	4094	5918	30536507	SO:0001630	splice_region_variant	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1325-1C>T	22.37:g.32206507C>T			30536507	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827282	0.71143	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.46819	1.45;1.43;0.86;1.85;1.85;1.84;1.43;1.85;1.84;1.85	5.4	5.4	0.78164	.	0.119371	0.64402	D	0.000018	T	0.59514	0.2199	L	0.54323	1.7	0.80722	D	1	B;P;D;B;P;P	0.67145	0.198;0.755;0.996;0.126;0.855;0.733	B;B;P;B;B;B	0.56700	0.113;0.444;0.804;0.073;0.271;0.435	T	0.56733	-0.7930	9	.	.	.	.	18.233	0.89939	0.0:1.0:0.0:0.0	.	442;414;442;442;442;442	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	F	442;414;442;442;442;442;442;442;442;442;442	ENSP00000440210:S442F;ENSP00000441358:S414F;ENSP00000383101:S442F;ENSP00000266091:S442F;ENSP00000383108:S442F;ENSP00000383105:S442F;ENSP00000371539:S442F;ENSP00000371546:S442F;ENSP00000371545:S442F;ENSP00000383107:S442F	.	S	+	2	0	DEPDC5	30536507	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.594000	0.67557	2.543000	0.85770	0.555000	0.69702	TCT		0.418	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	Missense_Mutation	T	32206507	C	T	32206507	5	4	16	1	0	0	0	0	0	0	1	0	4442	811	28	2	1399	2	DEPDC5	22	32206507	Splice_Site	SNP	C	TCGA-04-1361-01A-01W-0494-09		32206507	19098059	57	888											
EIF3L	51386	genome.wustl.edu	37	22	38266253	38266253	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chr22:38266253C>G	ENST00000412331.2	+	8	1232	c.650C>G	c.(649-651)tCc>tGc	p.S217C	EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_Missense_Mutation_p.S119C|EIF3L_ENST00000381683.6_Missense_Mutation_p.S169C	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.S217C(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTCTTCGTTCCAATCCCAAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	22											165	131	143					22																	38266253		2203	4300	6503	36596199	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.650C>G	22.37:g.38266253C>G	ENSP00000416892:p.Ser217Cys		36596199		Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607497	0.66558	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.46819	0.86;0.86;0.86	4.93	4.93	0.64822	.	0.152963	0.64402	D	0.000012	T	0.62792	0.2457	L	0.59436	1.845	0.48185	D	0.999609	P;D;P;D	0.55800	0.915;0.973;0.878;0.97	P;P;P;P	0.59288	0.708;0.855;0.708;0.799	T	0.64803	-0.6321	10	0.54805	T	0.06	-30.2824	18.5041	0.90891	0.0:1.0:0.0:0.0	.	169;119;217;260	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	C	217;260;169;184;119	ENSP00000416892:S217C;ENSP00000371099:S169C;ENSP00000384634:S119C	ENSP00000262832:S184C	S	+	2	0	EIF3L	36596199	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	3.900000	0.56295	2.430000	0.82344	0.462000	0.41574	TCC		0.438	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		G	38266253	C	G	38266253	3	3	16	1	0	0	0	0	1	0	0	0	5022	855	30	3	680	3	EIF3L	22	38266253	Missense_Mutation	SNP	C	TCGA-04-1361-01A-01W-0494-09	6059746	38266253	13038313	58	889											
PFKFB1	5207	genome.wustl.edu	37	X	55020432	55020432	+	Silent	SNP	T	T	G			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chrX:55020432T>G	ENST00000375006.3	-	1	79	c.9A>C	c.(7-9)ccA>ccC	p.P3P	PFKFB1_ENST00000374992.2_Silent_p.P3P|PFKFB1_ENST00000545676.1_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	3	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.P3P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CTCCCATCTCTGGAGACATCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	X											90	66	74					X																	55020432		2203	4300	6503	55037157	SO:0001819	synonymous_variant	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.9A>C	X.37:g.55020432T>G			55037157	B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	CCDS14364.1																																																																																				0.547	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			G	55020432	T	G	55020432	2	3	16	1	0	0	0	0	0	0	0	1	11760	1567	55	5		5	PFKFB1	23	55020432	Silent	SNP	T	TCGA-04-1361-01A-01W-0494-09		55020432	100250128	59	890											
KIAA1210	57481	genome.wustl.edu	37	X	118239038	118239038	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chrX:118239038A>T	ENST00000402510.2	-	7	984	c.985T>A	c.(985-987)Ttg>Atg	p.L329M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	329								p.L189M(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATTTCTACCAAGTTCTTAGAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											139	138	138					X																	118239038		1935	4119	6054	118123066	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.985T>A	X.37:g.118239038A>T	ENSP00000384670:p.Leu329Met		118123066	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599631	0.46318	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.19105	2.17	4.48	-1.47	0.08772	.	.	.	.	.	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	D	0.64237	0.923	T	0.13926	-1.0491	9	0.30078	T	0.28	.	1.3598	0.02189	0.3497:0.3618:0.1098:0.1787	.	329	Q9ULL0	K1210_HUMAN	M	329;165	ENSP00000384670:L329M	ENSP00000396164:L165M	L	-	1	2	RP13-347D8.5;RP13-347D8.6	118123066	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.425000	0.21346	-0.112000	0.11979	-0.545000	0.04230	TTG		0.438	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		T	118239038	A	T	118239038	3	4	16	1	0	0	0	0	1	0	0	0	8214	69	3	5	4176	5	KIAA1210	23	118239038	Missense_Mutation	SNP	A	TCGA-04-1361-01A-01W-0494-09	63218606	118239038	37031522	60	891											
AIFM1	9131	genome.wustl.edu	37	X	129265759	129265759	+	Silent	SNP	G	G	T	rs146608893		TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chrX:129265759G>T	ENST00000287295.3	-	14	1694	c.1464C>A	c.(1462-1464)ccC>ccA	p.P488P	AIFM1_ENST00000440263.1_Silent_p.P136P|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Silent_p.P201P|AIFM1_ENST00000460436.2_Silent_p.P149P|AIFM1_ENST00000319908.3_Silent_p.P484P	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	488					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.P488P(2)|p.P484P(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	AGCCAACATCGGGGCCCAAAT	0.458																																																4	Substitution - coding silent(4)	ovary(2)|kidney(2)	X											124	110	115					X																	129265759		2203	4300	6503	129093440	SO:0001819	synonymous_variant	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1464C>A	X.37:g.129265759G>T			129093440	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	CCDS14618.1																																																																																				0.458	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			T	129265759	G	T	129265759	2	4	16	1	0	0	0	0	0	0	0	1	426	1103	39	3		3	AIFM1	23	129265759	Silent	SNP	G	TCGA-04-1361-01A-01W-0494-09	11026721	129265759	26004801	61	892											
MST4	51765	genome.wustl.edu	37	X	131207038	131207038	+	Silent	SNP	C	C	T	rs34419165		TCGA-04-1361-01A-01W-0494-09	TCGA-04-1361-11A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	0fc567bd-2201-4f3d-820e-2c0dbe58da6f	d3ed75c6-ca30-4f83-8b1f-7ee17b3ca79d	g.chrX:131207038C>T	ENST00000354719.6	+	10	1287	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MST4_ENST00000481105.1_Silent_p.L403L|MST4_ENST00000496850.1_Silent_p.L319L|MST4_ENST00000394335.2_Silent_p.L304L|MST4_ENST00000394334.2_Silent_p.L381L														p.L381L(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGAAGAACTCGAGAAAAGTA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	X											64	70	68					X																	131207038		2199	4295	6494	131034719	SO:0001819	synonymous_variant	51765																														ENST00000354719.6:c.1071C>T	X.37:g.131207038C>T			131034719		Silent	SNP	ENST00000354719.6	37																																																																																					0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			T	131207038	C	T	131207038	2	4	16	1	0	0	0	0	0	0	0	1	9892	871	31	1		1	MST4	23	131207038	Silent	SNP	C	TCGA-04-1361-01A-01W-0494-09	1941279	131207038	24063522	62	893											
RBBP4	5928	genome.wustl.edu	37	1	33123108	33123108	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr1:33123108C>A	ENST00000373493.5	+	3	404	c.245C>A	c.(244-246)gCc>gAc	p.A82D	RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000414241.3_Missense_Mutation_p.A81D|RBBP4_ENST00000373485.1_Missense_Mutation_p.A82D|RBBP4_ENST00000458695.2_Missense_Mutation_p.A47D	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	82					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)	p.A82D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTTGTTATAGCCAGTGTGCAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											126	105	112					1																	33123108		2203	4300	6503	32895695	SO:0001583	missense	5928			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.245C>A	1.37:g.33123108C>A	ENSP00000362592:p.Ala82Asp		32895695	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	CCDS366.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265493	0.95399	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000373485;ENST00000458695;ENST00000490500;ENST00000445722	T;T;T;T	0.71934	-0.58;-0.61;-0.5;-0.56	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	H	0.96943	3.91	0.80722	D	1	D;P	0.56035	0.974;0.955	P;P	0.61592	0.644;0.891	D	0.92463	0.5979	10	0.87932	D	0	.	18.1598	0.89705	0.0:1.0:0.0:0.0	.	81;82	Q09028-2;Q09028	.;RBBP4_HUMAN	D	81;82;82;47;47;47	ENSP00000398242:A81D;ENSP00000362592:A82D;ENSP00000362584:A82D;ENSP00000396057:A47D	ENSP00000362584:A82D	A	+	2	0	RBBP4	32895695	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.692000	0.84203	2.607000	0.88179	0.561000	0.74099	GCC		0.433	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		A	33123108	C	A	33123108	3	1	17	1	0	0	0	0	1	0	0	0	13104	739	26	3	255	3	RBBP4	1	33123108	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09		33123108	216127513	1	894											
FAM183A	440585	genome.wustl.edu	37	1	43616454	43616454	+	Silent	SNP	C	C	G			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr1:43616454C>G	ENST00000335282.4	+	2	156	c.156C>G	c.(154-156)ccC>ccG	p.P52P	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000410048.1_Silent_p.P24P	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	52								p.P52P(3)		kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CCAGGAAGCCCATGTCTTGGC	0.468																																																3	Substitution - coding silent(3)	lung(2)|ovary(1)	1											87	79	81					1																	43616454		1891	4118	6009	43389041	SO:0001819	synonymous_variant	440585			AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.156C>G	1.37:g.43616454C>G			43389041	B7ZBL8	Silent	SNP	ENST00000335282.4	37	CCDS44126.1																																																																																				0.468	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3	NM_001101376		G	43616454	C	G	43616454	2	3	17	1	0	0	0	0	0	0	0	1	5510	581	21	3		3	FAM183A	1	43616454	Silent	SNP	C	TCGA-04-1362-01A-01W-0494-09	10493346	43616454	205634167	2	895											
SYDE2	84144	genome.wustl.edu	37	1	85655917	85655917	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr1:85655917A>C	ENST00000341460.5	-	2	1313	c.1264T>G	c.(1264-1266)Tca>Gca	p.S422A		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	422					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.S344A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GAGCACAGTGAGTCTTCAGTA	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											167	157	160					1																	85655917		2025	4189	6214	85428505	SO:0001583	missense	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1264T>G	1.37:g.85655917A>C	ENSP00000340594:p.Ser422Ala		85428505	Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	A	4.198	0.035398	0.08148	.	.	ENSG00000097096	ENST00000341460	T	0.06218	3.33	5.96	-3.43	0.04810	.	3.104450	0.00982	N	0.003387	T	0.01765	0.0056	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.45977	-0.9224	10	0.23302	T	0.38	.	7.2307	0.26040	0.2652:0.2619:0.4729:0.0	.	422;422	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	A	422	ENSP00000340594:S422A	ENSP00000340594:S422A	S	-	1	0	SYDE2	85428505	0.000000	0.05858	0.017000	0.16124	0.002000	0.02628	-0.713000	0.05007	-0.345000	0.08325	-1.136000	0.01936	TCA		0.483	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			C	85655917	A	C	85655917	3	2	17	1	0	0	0	0	1	0	0	0	15436	304	11	5	2344	5	SYDE2	1	85655917	Missense_Mutation	SNP	A	TCGA-04-1362-01A-01W-0494-09	42039463	85655917	163594704	3	896											
IVL	3713	genome.wustl.edu	37	1	152882578	152882578	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr1:152882578A>C	ENST00000368764.3	+	2	369	c.305A>C	c.(304-306)gAa>gCa	p.E102A	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	102					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.E102A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAAAGCAGAAAACCCAGAG	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											53	54	54					1																	152882578		2203	4300	6503	151149202	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.305A>C	1.37:g.152882578A>C	ENSP00000357753:p.Glu102Ala		151149202	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.133963	0.37630	.	.	ENSG00000163207	ENST00000368764	T	0.09817	2.94	4.98	-5.21	0.02815	.	.	.	.	.	T	0.01353	0.0044	N	0.14661	0.345	0.09310	N	0.999999	B	0.26744	0.158	B	0.20767	0.031	T	0.45469	-0.9259	9	0.39692	T	0.17	.	5.0336	0.14423	0.2329:0.1311:0.508:0.128	.	102	P07476	INVO_HUMAN	A	102	ENSP00000357753:E102A	ENSP00000357753:E102A	E	+	2	0	IVL	151149202	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.297000	0.08276	-1.130000	0.02914	0.459000	0.35465	GAA		0.498	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		C	152882578	A	C	152882578	3	2	17	1	0	0	0	0	1	0	0	0	7929	246	9	5	307	5	IVL	1	152882578	Missense_Mutation	SNP	A	TCGA-04-1362-01A-01W-0494-09	67226661	152882578	96368043	4	897											
CRB1	23418	genome.wustl.edu	37	1	197391053	197391053	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr1:197391053C>T	ENST00000367400.3	+	6	2230	c.2095C>T	c.(2095-2097)Cac>Tac	p.H699Y	CRB1_ENST00000535699.1_Missense_Mutation_p.H630Y|CRB1_ENST00000538660.1_Missense_Mutation_p.H699Y|CRB1_ENST00000544212.1_Missense_Mutation_p.H180Y|CRB1_ENST00000367399.2_Missense_Mutation_p.H587Y|CRB1_ENST00000367397.1_Missense_Mutation_p.H80Y|CRB1_ENST00000543483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	699	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H699Y(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGTGACTGCCACAGGCCCTA	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											56	57	56					1																	197391053		2202	4300	6502	195657676	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2095C>T	1.37:g.197391053C>T	ENSP00000356370:p.His699Tyr		195657676	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.877311	0.00537	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.65	-4.33	0.03677	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.44159	0.1280	N	0.11560	0.145	0.21416	N	0.999697	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.0;0.002;0.0;0.001	T	0.42699	-0.9436	9	0.02654	T	1	.	6.4451	0.21871	0.0:0.3169:0.2862:0.3969	.	699;630;587;348;699	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	Y	630;699;699;587;180;80;348	ENSP00000438786:H630Y;ENSP00000438091:H699Y;ENSP00000356370:H699Y;ENSP00000356369:H587Y;ENSP00000444556:H180Y;ENSP00000356367:H80Y	ENSP00000356367:H80Y	H	+	1	0	CRB1	195657676	1.000000	0.71417	0.300000	0.25030	0.020000	0.10135	1.094000	0.30951	-1.131000	0.02910	-0.859000	0.03014	CAC		0.522	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		T	197391053	C	T	197391053	3	4	17	1	0	0	0	0	1	0	0	0	3848	594	21	2	2117	2	CRB1	1	197391053	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	44508475	197391053	51859568	5	898											
SOS1	6654	genome.wustl.edu	37	2	39213276	39213276	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr2:39213276G>C	ENST00000426016.1	-	24	3777	c.3691C>G	c.(3691-3693)Cta>Gta	p.L1231V	SOS1_ENST00000395038.2_Missense_Mutation_p.L1216V|SOS1_ENST00000402219.2_Missense_Mutation_p.L1231V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1231					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1231V(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGGAGATGTAGTGGTGAGCTT	0.512									Noonan syndrome																																							1	Substitution - Missense(1)	ovary(1)	2											147	153	151					2																	39213276		2203	4300	6503	39066780	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3691C>G	2.37:g.39213276G>C	ENSP00000387784:p.Leu1231Val		39066780	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475247	0.43942	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.78364	-1.01;-1.01;-1.17	5.8	4.92	0.64577	.	0.106863	0.45867	D	0.000333	T	0.79969	0.4538	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.75062	-0.3450	10	0.12103	T	0.63	.	13.9969	0.64407	0.0737:0.0:0.9263:0.0	.	1231	Q07889	SOS1_HUMAN	V	1231;1231;948;1216	ENSP00000387784:L1231V;ENSP00000384675:L1231V;ENSP00000378479:L1216V	ENSP00000378479:L1216V	L	-	1	2	SOS1	39066780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.050000	0.49877	1.426000	0.47256	0.650000	0.86243	CTA		0.512	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		C	39213276	G	C	39213276	3	2	17	1	0	0	0	0	1	0	0	0	14939	1020	36	3	314	3	SOS1	2	39213276	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09		39213276	203986097	6	899											
CDKL4	344387	genome.wustl.edu	37	2	39440595	39440595	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr2:39440595G>C	ENST00000395035.3	-	3	308	c.309C>G	c.(307-309)atC>atG	p.I103M	CDKL4_ENST00000378803.1_Missense_Mutation_p.I103M			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.I103M(1)		breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				ATACGCTTTTGATCACTCCAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											76	84	81					2																	39440595		2203	4300	6503	39294099	SO:0001583	missense	344387				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"Cyclin-dependent kinases"	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.309C>G	2.37:g.39440595G>C	ENSP00000378476:p.Ile103Met		39294099	Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37		.	.	.	.	.	.	.	.	.	.	G	12.04	1.819186	0.32145	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.68765	-0.35;-0.35	4.67	2.83	0.33086	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132552	0.33772	N	0.004578	T	0.69468	0.3114	M	0.73598	2.24	0.31935	N	0.611708	B;B	0.32467	0.372;0.006	B;B	0.42959	0.403;0.098	T	0.73107	-0.4087	10	0.72032	D	0.01	-15.3231	7.6416	0.28296	0.2022:0.0:0.7978:0.0	.	103;103	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	M	103	ENSP00000368080:I103M;ENSP00000378476:I103M	ENSP00000368080:I103M	I	-	3	3	CDKL4	39294099	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.659000	0.24994	0.386000	0.24997	0.561000	0.74099	ATC		0.348	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		C	39440595	G	C	39440595	3	2	17	1	0	0	0	0	1	0	0	0	3156	1280	45	3	662	3	CDKL4	2	39440595	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	227319	39440595	203758778	7	900											
CNNM3	26505	genome.wustl.edu	37	2	97490936	97490936	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr2:97490936A>G	ENST00000305510.3	+	2	1395	c.1367A>G	c.(1366-1368)tAc>tGc	p.Y456C	CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	456					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.Y456C(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TCTGAAGACTACCGTGAGTCC	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											71	58	62					2																	97490936		2203	4300	6503	96854663	SO:0001583	missense	26505			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1367A>G	2.37:g.97490936A>G	ENSP00000305449:p.Tyr456Cys		96854663	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.143082	0.37825	.	.	ENSG00000168763	ENST00000305510	D	0.91792	-2.91	5.56	4.39	0.52855	.	0.210253	0.42172	D	0.000743	D	0.92205	0.7528	M	0.83774	2.66	0.80722	D	1	P	0.37352	0.591	B	0.42738	0.396	D	0.90232	0.4280	10	0.54805	T	0.06	-9.3116	6.6455	0.22933	0.7651:0.1565:0.0785:0.0	.	456	Q8NE01	CNNM3_HUMAN	C	456	ENSP00000305449:Y456C	ENSP00000305449:Y456C	Y	+	2	0	CNNM3	96854663	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	2.801000	0.47908	0.932000	0.37266	0.533000	0.62120	TAC		0.607	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		G	97490936	A	G	97490936	3	3	17	1	0	0	0	0	1	0	0	0	3614	391	14	4	1373	4	CNNM3	2	97490936	Missense_Mutation	SNP	A	TCGA-04-1362-01A-01W-0494-09	58050341	97490936	145708437	8	901											
SCN9A	6335	genome.wustl.edu	37	2	167143055	167143055	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr2:167143055T>A	ENST00000409435.1	-	10	1392	c.1393A>T	c.(1393-1395)Aca>Tca	p.T465S	SCN9A_ENST00000303354.6_Missense_Mutation_p.T466S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.T465S|SCN9A_ENST00000375387.4_Missense_Mutation_p.T466S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	465					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.T465S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTTTGGATGTTTCAGAAGAA	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											42	38	39					2																	167143055		1811	4076	5887	166851301	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1393A>T	2.37:g.167143055T>A	ENSP00000386330:p.Thr465Ser		166851301	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	8.421	0.846403	0.16963	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.86	3.4	0.38934	Domain of unknown function DUF3451 (1);	0.184196	0.38897	N	0.001532	T	0.72020	0.3409	N	0.04880	-0.145	0.24389	N	0.994756	B;B;B	0.19817	0.039;0.003;0.005	B;B;B	0.35073	0.195;0.012;0.012	T	0.59129	-0.7512	10	0.08381	T	0.77	.	0.5974	0.00738	0.1814:0.1702:0.189:0.4595	.	465;465;466	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	S	465;466;466;465;330;330	ENSP00000386306:T465S;ENSP00000364536:T466S;ENSP00000304748:T466S;ENSP00000386330:T465S;ENSP00000413212:T330S;ENSP00000393141:T330S	ENSP00000304748:T466S	T	-	1	0	SCN9A	166851301	0.973000	0.33851	1.000000	0.80357	0.996000	0.88848	0.339000	0.19875	2.238000	0.73509	0.477000	0.44152	ACA		0.433	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		A	167143055	T	A	167143055	3	1	17	1	0	0	0	0	1	0	0	0	13928	1725	60	5	4608	5	SCN9A	2	167143055	Missense_Mutation	SNP	T	TCGA-04-1362-01A-01W-0494-09	69652119	167143055	76056318	9	902											
LRP2	4036	genome.wustl.edu	37	2	169989189	169989189	+	Silent	SNP	C	C	G			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr2:169989189C>G	ENST00000263816.3	-	77	13908	c.13623G>C	c.(13621-13623)gtG>gtC	p.V4541V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4541					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V4541V(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CAGATACAGTCACCTGTGGAC	0.378																																																1	Substitution - coding silent(1)	ovary(1)	2											107	105	105					2																	169989189		2203	4300	6503	169697435	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13623G>C	2.37:g.169989189C>G			169697435	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	169989189	C	G	169989189	2	3	17	1	0	0	0	0	0	0	0	1	8956	813	29	3		3	LRP2	2	169989189	Silent	SNP	C	TCGA-04-1362-01A-01W-0494-09	2846134	169989189	73210184	10	903											
GLS	2744	genome.wustl.edu	37	2	191819354	191819354	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr2:191819354C>G	ENST00000320717.3	+	16	2015	c.1757C>G	c.(1756-1758)tCt>tGt	p.S586C	GLS_ENST00000409428.1_Missense_Mutation_p.S91C	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	586					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.S586C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GACTATGATTCTAGAACAGCA	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											84	86	86					2																	191819354		2203	4300	6503	191527599	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1757C>G	2.37:g.191819354C>G	ENSP00000317379:p.Ser586Cys		191527599	Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819463	0.90873	.	.	ENSG00000115419	ENST00000320717;ENST00000457316;ENST00000409428;ENST00000412247	T;T;T;T	0.34667	1.35;1.35;1.35;1.51	5.38	5.38	0.77491	Ankyrin repeat-containing domain (4);	0.060739	0.64402	D	0.000001	T	0.52517	0.1739	L	0.35644	1.08	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.72075	0.848;0.976;0.976	T	0.51973	-0.8637	10	0.66056	D	0.02	-18.4559	19.3333	0.94303	0.0:1.0:0.0:0.0	.	157;586;586	B7Z2P1;A8K132;O94925	.;.;GLSK_HUMAN	C	586;157;91;107	ENSP00000317379:S586C;ENSP00000395596:S157C;ENSP00000387177:S91C;ENSP00000403329:S107C	ENSP00000317379:S586C	S	+	2	0	GLS	191527599	1.000000	0.71417	0.957000	0.39632	0.976000	0.68499	5.560000	0.67332	2.793000	0.96121	0.655000	0.94253	TCT		0.353	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			G	191819354	C	G	191819354	3	3	17	1	0	0	0	0	1	0	0	0	6463	913	32	3	1819	3	GLS	2	191819354	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	21830165	191819354	51380019	11	904											
FBXO40	51725	genome.wustl.edu	37	3	121341495	121341495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr3:121341495G>T	ENST00000338040.4	+	3	1633	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	407					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E407*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TTTGGAAAGAGAACTCAAAGG	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	3											117	112	114					3																	121341495		2203	4300	6503	122824185	SO:0001587	stop_gained	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1219G>T	3.37:g.121341495G>T	ENSP00000337510:p.Glu407*		122824185	B2RAX7|Q32M70|Q9ULM5	Nonsense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	40	8.260967	0.98732	.	.	ENSG00000163833	ENST00000338040	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-19.5671	17.4071	0.87476	0.0:0.0:1.0:0.0	.	.	.	.	X	407	.	ENSP00000337510:E407X	E	+	1	0	FBXO40	122824185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.721000	0.93114	0.655000	0.94253	GAA		0.463	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		T	121341495	G	T	121341495	4	4	17	1	0	0	0	0	0	1	0	0	5749	943	33	3	1225	3	FBXO40	3	121341495	Nonsense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09		121341495	76680935	12	905											
GPR78	27201	genome.wustl.edu	37	4	8584315	8584315	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr4:8584315G>T	ENST00000382487.4	+	2	1143	c.726G>T	c.(724-726)aaG>aaT	p.K242N	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	242					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K242N(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCACCAGGAAGATTGGCATTG	0.627																																																1	Substitution - Missense(1)	ovary(1)	4											145	122	130					4																	8584315		2203	4300	6503	8635215	SO:0001583	missense	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.726G>T	4.37:g.8584315G>T	ENSP00000371927:p.Lys242Asn		8635215	Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416048	0.42817	.	.	ENSG00000155269	ENST00000382487	T	0.37235	1.21	2.43	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.169266	0.37955	U	0.001866	T	0.46367	0.1389	L	0.54323	1.7	0.31646	N	0.647443	D	0.76494	0.999	D	0.73380	0.98	T	0.51942	-0.8641	10	0.72032	D	0.01	.	3.8188	0.08827	0.3491:0.0:0.6509:0.0	.	242	Q96P69	GPR78_HUMAN	N	242	ENSP00000371927:K242N	ENSP00000371927:K242N	K	+	3	2	GPR78	8635215	1.000000	0.71417	0.003000	0.11579	0.014000	0.08584	1.807000	0.38902	1.183000	0.42943	0.563000	0.77884	AAG		0.627	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			T	8584315	G	T	8584315	3	4	17	1	0	0	0	0	1	0	0	0	6710	933	33	3	732	3	GPR78	4	8584315	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09		8584315	182569961	13	906											
ADAMTS3	9508	genome.wustl.edu	37	4	73171758	73171758	+	Missense_Mutation	SNP	G	G	C	rs199518563		TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr4:73171758G>C	ENST00000286657.4	-	16	2242	c.2206C>G	c.(2206-2208)Cct>Gct	p.P736A		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	736	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P736A(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAGCCCCAGGGGGTATATCA	0.403																																					NSCLC(168;1941 2048 2918 13048 43078)											1	Substitution - Missense(1)	ovary(1)	4											119	119	119					4																	73171758		2203	4300	6503	73390622	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2206C>G	4.37:g.73171758G>C	ENSP00000286657:p.Pro736Ala		73390622	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	5.189	0.220451	0.09863	.	.	ENSG00000156140	ENST00000286657	T	0.41758	0.99	5.49	4.64	0.57946	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.20659	0.0497	N	0.04245	-0.25	0.39127	D	0.961788	B	0.09022	0.002	B	0.14023	0.01	T	0.17077	-1.0381	10	0.02654	T	1	.	16.7166	0.85398	0.0:0.1294:0.8706:0.0	.	736	O15072	ATS3_HUMAN	A	736	ENSP00000286657:P736A	ENSP00000286657:P736A	P	-	1	0	ADAMTS3	73390622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.042000	0.64202	1.446000	0.47643	0.650000	0.86243	CCT		0.403	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			C	73171758	G	C	73171758	3	2	17	1	0	0	0	0	1	0	0	0	267	1232	43	3	1439	3	ADAMTS3	4	73171758	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	64587443	73171758	117982518	14	907											
CLGN	1047	genome.wustl.edu	37	4	141311798	141311798	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr4:141311798G>A	ENST00000325617.5	-	14	2176	c.1736C>T	c.(1735-1737)tCt>tTt	p.S579F	CLGN_ENST00000537281.1_Missense_Mutation_p.S579F|CLGN_ENST00000414773.1_Missense_Mutation_p.S579F	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	579					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.S579F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTCTGACCCAGACTTATTTGA	0.313																																																1	Substitution - Missense(1)	ovary(1)	4											183	171	175					4																	141311798		2202	4299	6501	141531248	SO:0001583	missense	1047			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1736C>T	4.37:g.141311798G>A	ENSP00000326699:p.Ser579Phe		141531248	B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353036	0.61293	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.52754	0.65;0.65;0.65	5.5	5.5	0.81552	.	0.287885	0.32343	N	0.006229	T	0.60183	0.2249	L	0.47716	1.5	0.53005	D	0.999963	D	0.63880	0.993	P	0.59288	0.855	T	0.61272	-0.7096	10	0.62326	D	0.03	-20.3285	18.3728	0.90412	0.0:0.0:1.0:0.0	.	579	O14967	CLGN_HUMAN	F	579;579;579;496	ENSP00000326699:S579F;ENSP00000392782:S579F;ENSP00000439381:S579F	ENSP00000326699:S579F	S	-	2	0	CLGN	141531248	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.151000	0.64875	2.581000	0.87130	0.591000	0.81541	TCT		0.313	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		A	141311798	G	A	141311798	3	1	17	1	0	0	0	0	1	0	0	0	3524	942	33	2	104	2	CLGN	4	141311798	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	68140040	141311798	49842478	15	908											
ARL15	54622	genome.wustl.edu	37	5	53467629	53467629	+	Missense_Mutation	SNP	C	C	A	rs142010064		TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr5:53467629C>A	ENST00000504924.1	-	2	271	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F	ARL15_ENST00000502271.1_Intron|ARL15_ENST00000507646.2_Missense_Mutation_p.V60F|ARL15_ENST00000510591.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	60					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)	p.V48F(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GTCGACACGACGTTATCGGGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	5											66	67	67					5																	53467629		1957	4140	6097	53503386	SO:0001583	missense	54622			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25945	protein-coding gene	gene with protein product			"ADP-ribosylation factor related protein 2"	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.178G>T	5.37:g.53467629C>A	ENSP00000433427:p.Val60Phe		53503386	Q6IAD0	Missense_Mutation	SNP	ENST00000504924.1	37	CCDS54850.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635728	0.29068	.	.	ENSG00000185305	ENST00000504924;ENST00000507646	T;D	0.82526	-0.43;-1.62	5.93	4.15	0.48705	.	0.156015	0.53938	D	0.000049	T	0.80523	0.4639	L	0.58969	1.84	0.39412	D	0.966777	P	0.43542	0.81	P	0.45794	0.493	T	0.81640	-0.0841	10	0.87932	D	0	-16.1539	5.5774	0.17231	0.0:0.6408:0.0:0.3592	.	60	Q9NXU5	ARL15_HUMAN	F	60	ENSP00000433427:V60F;ENSP00000432680:V60F	ENSP00000433427:V60F	V	-	1	0	ARL15	53503386	1.000000	0.71417	0.042000	0.18584	0.155000	0.21991	1.712000	0.37940	1.508000	0.48769	0.561000	0.74099	GTC		0.512	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368432.2	NM_019087		A	53467629	C	A	53467629	3	1	17	1	0	0	0	0	1	0	0	0	931	536	19	3	452	3	ARL15	5	53467629	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09		53467629	127447631	16	909											
NR2F1	7025	genome.wustl.edu	37	5	92929415	92929415	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr5:92929415T>G	ENST00000327111.3	+	3	2826	c.1139T>G	c.(1138-1140)gTg>gGg	p.V380G	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	380					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.V380G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGCGCACCGTGTCCTCCTCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	5											117	112	114					5																	92929415		2203	4300	6503	92955171	SO:0001583	missense	7025			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1139T>G	5.37:g.92929415T>G	ENSP00000325819:p.Val380Gly		92955171		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445026	0.83993	.	.	ENSG00000175745	ENST00000327111	T	0.53423	0.62	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80674	-0.1277	10	0.87932	D	0	.	16.4957	0.84242	0.0:0.0:0.0:1.0	.	380	P10589	COT1_HUMAN	G	380	ENSP00000325819:V380G	ENSP00000325819:V380G	V	+	2	0	NR2F1	92955171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GTG		0.582	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		G	92929415	T	G	92929415	3	3	17	1	0	0	0	0	1	0	0	0	10627	1696	59	5	1149	5	NR2F1	5	92929415	Missense_Mutation	SNP	T	TCGA-04-1362-01A-01W-0494-09	39461786	92929415	87985845	17	910											
ODZ2	57451	genome.wustl.edu	37	5	167642199	167642199	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr5:167642199G>C	ENST00000518659.1	+	21	4039	c.4000G>C	c.(4000-4002)Gag>Cag	p.E1334Q	TENM2_ENST00000519204.1_Missense_Mutation_p.E1213Q|TENM2_ENST00000520394.1_Missense_Mutation_p.E1095Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E1333Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E1158Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1334					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E1167Q(1)									AGGGACGGGAGAGCAGTGTCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	5											91	99	96					5																	167642199		1965	4128	6093	167574777	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4000G>C	5.37:g.167642199G>C	ENSP00000429430:p.Glu1334Gln		167574777	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.038693	0.75617	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90444	-2.2;-2.19;-2.3;-2.66;-2.67	5.1	5.1	0.69264	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	L	0.58354	1.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.996	D;D;D	0.76071	0.987;0.971;0.986	D	0.93780	0.7083	10	0.44086	T	0.13	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	1333;1334;1095	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Q	1334;1333;1213;1095;1158	ENSP00000429430:E1334Q;ENSP00000438635:E1333Q;ENSP00000428964:E1213Q;ENSP00000427874:E1095Q;ENSP00000384905:E1158Q	ENSP00000384905:E1158Q	E	+	1	0	ODZ2	167574777	1.000000	0.71417	0.996000	0.52242	0.361000	0.29550	9.813000	0.99286	2.368000	0.80403	0.655000	0.94253	GAG		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		C	167642199	G	C	167642199	3	2	17	1	0	0	0	0	1	0	0	0	10835	943	33	3	4055	3	ODZ2	5	167642199	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	74712784	167642199	13273061	18	911											
ZNF354A	6940	genome.wustl.edu	37	5	178139749	178139749	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr5:178139749G>T	ENST00000335815.2	-	5	1327	c.1130C>A	c.(1129-1131)aCt>aAt	p.T377N		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	377					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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.T377N(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		CTTCTCTCCAGTGTGAATTCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											63	67	66					5																	178139749		2201	4280	6481	178072355	SO:0001583	missense	6940			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1130C>A	5.37:g.178139749G>T	ENSP00000337122:p.Thr377Asn		178072355	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911907	0.52439	.	.	ENSG00000169131	ENST00000335815	T	0.26067	1.76	4.96	4.09	0.47781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33916	N	0.004437	T	0.44664	0.1304	M	0.62723	1.935	0.41446	D	0.987953	D	0.89917	1.0	D	0.74674	0.984	T	0.34825	-0.9813	10	0.66056	D	0.02	-12.7997	11.0965	0.48147	0.0922:0.0:0.9078:0.0	.	377	O60765	Z354A_HUMAN	N	377	ENSP00000337122:T377N	ENSP00000337122:T377N	T	-	2	0	ZNF354A	178072355	0.904000	0.30761	0.969000	0.41365	0.622000	0.37654	1.216000	0.32443	2.741000	0.93983	0.655000	0.94253	ACT		0.403	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		T	178139749	G	T	178139749	3	4	17	1	0	0	0	0	1	0	0	0	17864	1029	36	3	691	3	ZNF354A	5	178139749	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	10497550	178139749	2775511	19	912											
TRIM39	56658	genome.wustl.edu	37	6	30309530	30309530	+	Missense_Mutation	SNP	G	G	C	rs115963942	byFrequency	TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr6:30309530G>C	ENST00000396547.1	+	8	1211	c.1051G>C	c.(1051-1053)Gtc>Ctc	p.V351L	TRIM39_ENST00000396551.3_Missense_Mutation_p.V321L|TRIM39_ENST00000540416.1_Missense_Mutation_p.V321L|TRIM39_ENST00000376656.4_Missense_Mutation_p.V351L|TRIM39_ENST00000396548.1_Missense_Mutation_p.V321L|TRIM39_ENST00000376659.5_Missense_Mutation_p.V321L|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.V233L			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	351	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V351L(1)		ovary(3)	3						TCCTAACCTAGTCCTGTCAGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	6											77	54	62					6																	30309530		1510	2708	4218	30417509	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1051G>C	6.37:g.30309530G>C	ENSP00000379796:p.Val351Leu		30417509	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026735	0.54683	.	.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	T;T;T;T;T;T;T	0.10668	3.58;2.85;3.58;3.58;3.58;2.85;3.58	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.185299	0.37530	N	0.002055	T	0.03651	0.0104	N	0.16201	0.385	0.30819	N	0.738035	B;B;B	0.29766	0.106;0.256;0.045	B;B;B	0.37989	0.047;0.262;0.034	T	0.42361	-0.9456	10	0.28530	T	0.3	.	13.1433	0.59446	0.0:0.1603:0.8397:0.0	.	235;351;321	F5H2V3;Q9HCM9;Q9HCM9-2	.;TRI39_HUMAN;.	L	321;351;351;321;321;235;321;321;351;233	ENSP00000379800:V321L;ENSP00000365844:V351L;ENSP00000439400:V321L;ENSP00000379797:V321L;ENSP00000365847:V321L;ENSP00000379796:V351L;ENSP00000424048:V233L	ENSP00000365844:V351L	V	+	1	0	TRIM39-RPP21;TRIM39	30417509	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.347000	0.20014	2.730000	0.93505	0.655000	0.94253	GTC		0.567	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		C	30309530	G	C	30309530	3	2	17	1	0	0	0	0	1	0	0	0	16513	1029	36	3	1077	3	TRIM39	6	30309530	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09		30309530	140805537	20	913											
BEND3	57673	genome.wustl.edu	37	6	107391738	107391738	+	Silent	SNP	C	C	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr6:107391738C>T	ENST00000369042.1	-	4	847	c.657G>A	c.(655-657)ctG>ctA	p.L219L	BEND3_ENST00000429433.2_Silent_p.L219L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	219								p.L219L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAAGGGAGAGCAGGTCCACCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	6											124	94	104					6																	107391738		2203	4300	6503	107498431	SO:0001819	synonymous_variant	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.657G>A	6.37:g.107391738C>T			107498431	A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	CCDS34507.1																																																																																				0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		T	107391738	C	T	107391738	2	4	17	1	0	0	0	0	0	0	0	1	1399	697	25	2		2	BEND3	6	107391738	Silent	SNP	C	TCGA-04-1362-01A-01W-0494-09	77082208	107391738	63723329	21	914											
LAMA2	3908	genome.wustl.edu	37	6	129826344	129826344	+	Splice_Site	SNP	G	G	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr6:129826344G>T	ENST00000421865.2	+	61	8596		c.e61-1			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.?(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTTTTTGTAGATTAAGATAA	0.373																																																1	Unknown(1)	ovary(1)	6											65	68	67					6																	129826344		2203	4300	6503	129868037	SO:0001630	splice_region_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8548-1G>T	6.37:g.129826344G>T			129868037	Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377775	0.82682	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129868037	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.216000	0.89764	2.711000	0.92665	0.655000	0.94253	.		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	T	129826344	G	T	129826344	5	4	17	1	0	0	0	0	0	0	1	0	8606	956	33	3	8789	3	LAMA2	6	129826344	Splice_Site	SNP	G	TCGA-04-1362-01A-01W-0494-09	22434606	129826344	41288723	22	915											
AKAP7	9465	genome.wustl.edu	37	6	131602692	131602692	+	Silent	SNP	C	C	G	rs369639075		TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr6:131602692C>G	ENST00000431975.2	+	8	971	c.873C>G	c.(871-873)ccC>ccG	p.P291P	AKAP7_ENST00000474850.2_Silent_p.P47P|AKAP7_ENST00000342266.4_Silent_p.P24P|AKAP7_ENST00000368123.4_Silent_p.P269P|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000263050.3_Silent_p.P27P	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	291						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.P269P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GAGGGGAGCCCGATGACGCTG	0.507																																																1	Substitution - coding silent(1)	ovary(1)	6											59	60	60					6																	131602692		2203	4300	6503	131644385	SO:0001819	synonymous_variant	9465			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.873C>G	6.37:g.131602692C>G			131644385	B4DUC3|Q9HCZ8	Silent	SNP	ENST00000431975.2	37	CCDS5142.2																																																																																				0.507	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		G	131602692	C	G	131602692	2	3	17	1	0	0	0	0	0	0	0	1	456	639	23	3		3	AKAP7	6	131602692	Silent	SNP	C	TCGA-04-1362-01A-01W-0494-09	1776348	131602692	39512375	23	916											
ENPP3	5169	genome.wustl.edu	37	6	131995408	131995408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr6:131995408G>A	ENST00000414305.1	+	9	1077	c.749G>A	c.(748-750)tGg>tAg	p.W250*	ENPP3_ENST00000357639.3_Nonsense_Mutation_p.W250*|ENPP3_ENST00000543135.1_Nonsense_Mutation_p.W216*|ENPP3_ENST00000427148.2_Nonsense_Mutation_p.W216*|ENPP3_ENST00000358229.5_Nonsense_Mutation_p.W250*			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	250	Phosphodiesterase.				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.W250*(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)		CCAGCCTGGTGGCATGGGCAA	0.413																																																1	Substitution - Nonsense(1)	ovary(1)	6											63	59	61					6																	131995408		2203	4300	6503	132037101	SO:0001587	stop_gained	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.749G>A	6.37:g.131995408G>A	ENSP00000406261:p.Trp250*		132037101	Q5JTL3	Nonsense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	37	6.028277	0.97216	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1048	18.5472	0.91052	0.0:0.0:1.0:0.0	.	.	.	.	X	250;250;216;216;250	.	ENSP00000350265:W250X	W	+	2	0	ENPP3	132037101	1.000000	0.71417	0.999000	0.59377	0.594000	0.36715	6.005000	0.70716	2.756000	0.94617	0.637000	0.83480	TGG		0.413	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			A	131995408	G	A	131995408	4	1	17	1	0	0	0	0	0	1	0	0	5131	1357	47	2	779	2	ENPP3	6	131995408	Nonsense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	392716	131995408	39119659	24	917											
HIVEP2	3097	genome.wustl.edu	37	6	143090799	143090799	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr6:143090799G>C	ENST00000367604.1	-	4	5716	c.5077C>G	c.(5077-5079)Ctt>Gtt	p.L1693V	HIVEP2_ENST00000367603.2_Missense_Mutation_p.L1693V|HIVEP2_ENST00000012134.2_Missense_Mutation_p.L1693V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1693					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1693V(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GACCTCAGAAGAGCCAGCGTG	0.468																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											1	Substitution - Missense(1)	ovary(1)	6											147	137	141					6																	143090799		1895	4129	6024	143132492	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5077C>G	6.37:g.143090799G>C	ENSP00000356576:p.Leu1693Val		143132492	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907428	0.72868	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.12569	2.67;2.67;2.67	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.32241	-0.9914	10	0.87932	D	0	-21.3117	20.3697	0.98890	0.0:0.0:1.0:0.0	.	1693	P31629	ZEP2_HUMAN	V	1693	ENSP00000356576:L1693V;ENSP00000356575:L1693V;ENSP00000012134:L1693V	ENSP00000012134:L1693V	L	-	1	0	HIVEP2	143132492	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.923000	0.87546	2.811000	0.96726	0.655000	0.94253	CTT		0.468	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			C	143090799	G	C	143090799	3	2	17	1	0	0	0	0	1	0	0	0	7187	942	33	3	2287	3	HIVEP2	6	143090799	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	11095391	143090799	28024268	25	918											
HOXA2	3199	genome.wustl.edu	37	7	27140404	27140404	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr7:27140404T>C	ENST00000222718.5	-	2	1382	c.1072A>G	c.(1072-1074)Agc>Ggc	p.S358G	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	358					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S358G(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAGTCTAAGCTGTCAGCTGAA	0.428																																																1	Substitution - Missense(1)	ovary(1)	7											93	92	92					7																	27140404		2203	4300	6503	27106929	SO:0001583	missense	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.1072A>G	7.37:g.27140404T>C	ENSP00000222718:p.Ser358Gly		27106929	A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904289	0.33628	.	.	ENSG00000105996	ENST00000222718	T	0.10099	2.91	5.66	5.66	0.87406	.	0.178481	0.64402	D	0.000014	T	0.16342	0.0393	M	0.66506	2.035	0.44079	D	0.996839	B	0.28439	0.212	B	0.30316	0.114	T	0.01476	-1.1345	10	0.39692	T	0.17	.	15.5758	0.76380	0.0:0.0:0.0:1.0	.	358	O43364	HXA2_HUMAN	G	358	ENSP00000222718:S358G	ENSP00000222718:S358G	S	-	1	0	HOXA2	27106929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.912000	0.69948	2.153000	0.67306	0.533000	0.62120	AGC		0.428	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			C	27140404	T	C	27140404	3	2	17	1	0	0	0	0	1	0	0	0	7292	1580	55	4	62	4	HOXA2	7	27140404	Missense_Mutation	SNP	T	TCGA-04-1362-01A-01W-0494-09		27140404	131998259	26	919											
PKD1L1	168507	genome.wustl.edu	37	7	47906198	47906198	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr7:47906198A>C	ENST00000289672.2	-	25	3961	c.3911T>G	c.(3910-3912)cTg>cGg	p.L1304R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1304	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L1304R(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGGTTTTTCAGGCTGGAATT	0.443																																																1	Substitution - Missense(1)	ovary(1)	7											107	102	104					7																	47906198		2203	4300	6503	47872723	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3911T>G	7.37:g.47906198A>C	ENSP00000289672:p.Leu1304Arg		47872723	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787851	0.49997	.	.	ENSG00000158683	ENST00000289672	T	0.68181	-0.31	4.94	4.94	0.65067	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.000000	0.49916	D	0.000129	T	0.78013	0.4217	M	0.66939	2.045	0.35252	D	0.778836	D	0.89917	1.0	D	0.97110	1.0	T	0.81455	-0.0925	10	0.28530	T	0.3	-14.6701	12.5286	0.56100	1.0:0.0:0.0:0.0	.	1304	Q8TDX9	PK1L1_HUMAN	R	1304	ENSP00000289672:L1304R	ENSP00000289672:L1304R	L	-	2	0	PKD1L1	47872723	1.000000	0.71417	0.993000	0.49108	0.459000	0.32528	4.120000	0.57897	1.863000	0.54032	0.533000	0.62120	CTG		0.443	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		C	47906198	A	C	47906198	3	2	17	1	0	0	0	0	1	0	0	0	11964	188	7	5	4770	5	PKD1L1	7	47906198	Missense_Mutation	SNP	A	TCGA-04-1362-01A-01W-0494-09	20765794	47906198	111232465	27	920											
PKD1L1	168507	genome.wustl.edu	37	7	47933590	47933590	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr7:47933590G>T	ENST00000289672.2	-	15	2388	c.2338C>A	c.(2338-2340)Cct>Act	p.P780T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	780	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.P780T(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACACTGACAGGGGCCTGGGCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	7											88	65	73					7																	47933590		2203	4300	6503	47900115	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2338C>A	7.37:g.47933590G>T	ENSP00000289672:p.Pro780Thr		47900115	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	g	17.80	3.477748	0.63849	.	.	ENSG00000158683	ENST00000289672	T	0.69175	-0.38	5.23	5.23	0.72850	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.086835	0.44285	D	0.000470	T	0.77857	0.4193	L	0.56769	1.78	0.34296	D	0.683842	D	0.89917	1.0	D	0.79784	0.993	T	0.79928	-0.1596	10	0.25106	T	0.35	-29.3624	16.3617	0.83270	0.0:0.0:1.0:0.0	.	780	Q8TDX9	PK1L1_HUMAN	T	780	ENSP00000289672:P780T	ENSP00000289672:P780T	P	-	1	0	PKD1L1	47900115	1.000000	0.71417	0.516000	0.27786	0.736000	0.42039	6.196000	0.72094	2.462000	0.83206	0.543000	0.68304	CCT		0.597	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47933590	G	T	47933590	3	4	17	1	0	0	0	0	1	0	0	0	11964	1232	43	3	6383	3	PKD1L1	7	47933590	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	27392	47933590	111205073	28	921											
PTPRZ1	5803	genome.wustl.edu	37	7	121698857	121698857	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr7:121698857G>A	ENST00000393386.2	+	28	6943	c.6532G>A	c.(6532-6534)Gat>Aat	p.D2178N	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1311N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2178	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D2178N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTTATAGGATGATTATGTACT	0.338																																																1	Substitution - Missense(1)	ovary(1)	7											90	91	90					7																	121698857		2203	4300	6503	121486093	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6532G>A	7.37:g.121698857G>A	ENSP00000377047:p.Asp2178Asn		121486093	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947066	0.92593	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	D;D	0.82984	-1.67;-1.67	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	L	0.36672	1.1	0.80722	D	1	D;P;P	0.89917	1.0;0.859;0.95	D;P;D	0.87578	0.998;0.842;0.93	D	0.86889	0.2047	10	0.46703	T	0.11	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1317;1311;2178	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	N	2178;1311	ENSP00000377047:D2178N;ENSP00000410000:D1311N	ENSP00000377047:D2178N	D	+	1	0	PTPRZ1	121486093	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	8.033000	0.88852	2.885000	0.99019	0.655000	0.94253	GAT		0.338	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121698857	G	A	121698857	3	1	17	1	0	0	0	0	1	0	0	0	12817	1290	45	2	6642	2	PTPRZ1	7	121698857	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	73765267	121698857	37439806	29	922											
MEST	4232	genome.wustl.edu	37	7	130138007	130138007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr7:130138007C>T	ENST00000223215.4	+	5	588	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	MEST_ENST00000393187.1_Nonsense_Mutation_p.Q114*|MEST_ENST00000437945.1_Nonsense_Mutation_p.Q123*|MEST_ENST00000462132.1_Intron|hsa-mir-335_ENST00000604666.1_RNA|MIR335_ENST00000362173.1_RNA|MEST_ENST00000416162.2_Nonsense_Mutation_p.Q114*|MEST_ENST00000341441.5_Nonsense_Mutation_p.Q114*|MEST_ENST00000378576.4_Nonsense_Mutation_p.Q114*	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	123					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.Q123*(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CATATTTGAGCAGGCCAGCAT	0.507																																					Colon(126;2182 2305 6517 35181)											1	Substitution - Nonsense(1)	ovary(1)	7											77	75	75					7																	130138007		2203	4300	6503	129925243	SO:0001587	stop_gained	4232				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.367C>T	7.37:g.130138007C>T	ENSP00000223215:p.Gln123*		129925243	B2R6S1|O14973|O15007|Q6AI49|Q92571	Nonsense_Mutation	SNP	ENST00000223215.4	37	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780750	0.90195	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000399874;ENST00000433159;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945;ENST00000437637;ENST00000458161	.	.	.	5.33	5.33	0.75918	.	0.053218	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.1431	18.3565	0.90359	0.0:1.0:0.0:0.0	.	.	.	.	X	114;114;114;114;114;114;114;114;123;123;114;114	.	ENSP00000223215:Q123X	Q	+	1	0	MEST	129925243	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.348000	0.79366	2.656000	0.90262	0.561000	0.74099	CAG		0.507	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		T	130138007	C	T	130138007	4	4	17	1	0	0	0	0	0	1	0	0	9484	711	25	2	385	2	MEST	7	130138007	Nonsense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	8439150	130138007	29000656	30	923											
PLXNA4	91584	genome.wustl.edu	37	7	131833364	131833364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr7:131833364C>A	ENST00000359827.3	-	26	5664	c.4702G>T	c.(4702-4704)Gaa>Taa	p.E1568*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.E1568*			Q9HCM2	PLXA4_HUMAN	plexin A4	1568					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E1568*(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTGATGTCTTCATCCTGCAAG	0.542																																																1	Substitution - Nonsense(1)	ovary(1)	7											168	167	167					7																	131833364		2168	4292	6460	131483904	SO:0001587	stop_gained	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4702G>T	7.37:g.131833364C>A	ENSP00000352882:p.Glu1568*		131483904	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	47	13.066194	0.99717	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	.	.	.	X	1568	.	ENSP00000323194:E1568X	E	-	1	0	PLXNA4	131483904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.312000	0.78011	0.561000	0.74099	GAA		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131833364	C	A	131833364	4	1	17	1	0	0	0	0	0	1	0	0	12122	835	29	3	1010	3	PLXNA4	7	131833364	Nonsense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	1695357	131833364	27305299	31	924											
CSGALNACT1	55790	genome.wustl.edu	37	8	19316132	19316132	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr8:19316132T>C	ENST00000454498.2	-	5	1669	c.656A>G	c.(655-657)gAc>gGc	p.D219G	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D219G|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D219G|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D219G|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D219G	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	219					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.D219G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGTCCCTTTGTCCCTTTCTGT	0.423																																																1	Substitution - Missense(1)	ovary(1)	8											232	216	221					8																	19316132		2203	4300	6503	19360412	SO:0001583	missense	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.656A>G	8.37:g.19316132T>C	ENSP00000411816:p.Asp219Gly		19360412	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184935	0.78677	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	M	0.79475	2.455	0.80722	D	1	P	0.46142	0.873	P	0.53185	0.72	T	0.06499	-1.0823	10	0.21540	T	0.41	-36.3413	15.2208	0.73310	0.0:0.0:0.0:1.0	.	219	Q8TDX6	CGAT1_HUMAN	G	219	ENSP00000411816:D219G;ENSP00000330805:D219G;ENSP00000310891:D219G;ENSP00000429809:D219G;ENSP00000442155:D219G	ENSP00000310891:D219G	D	-	2	0	CSGALNACT1	19360412	1.000000	0.71417	0.969000	0.41365	0.895000	0.52256	7.622000	0.83099	2.333000	0.79357	0.533000	0.62120	GAC		0.423	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		C	19316132	T	C	19316132	3	2	17	1	0	0	0	0	1	0	0	0	3938	1667	58	4	966	4	CSGALNACT1	8	19316132	Missense_Mutation	SNP	T	TCGA-04-1362-01A-01W-0494-09		19316132	127047890	32	925											
EBF2	64641	genome.wustl.edu	37	8	25899653	25899653	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr8:25899653C>A	ENST00000520164.1	-	2	783	c.246G>T	c.(244-246)gaG>gaT	p.E82D	EBF2_ENST00000408929.3_5'Flank	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	82					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E82D(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCCGCTCGATCTCCACCGGCT	0.562																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											1	Substitution - Missense(1)	ovary(1)	8											78	88	85					8																	25899653		2165	4286	6451	25955570	SO:0001583	missense	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.246G>T	8.37:g.25899653C>A	ENSP00000430241:p.Glu82Asp		25955570	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017534	0.75161	.	.	ENSG00000221818	ENST00000520164	T	0.57436	0.4	5.02	4.15	0.48705	.	0.000000	0.85682	U	0.000000	T	0.67524	0.2902	M	0.86178	2.8	0.80722	D	1	P	0.50528	0.936	P	0.55011	0.766	T	0.72481	-0.4280	10	0.72032	D	0.01	-24.2839	10.2931	0.43608	0.0:0.8288:0.0:0.1712	.	82	Q9HAK2	COE2_HUMAN	D	82	ENSP00000430241:E82D	ENSP00000430241:E82D	E	-	3	2	EBF2	25955570	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.620000	0.36976	1.370000	0.46153	0.561000	0.74099	GAG		0.562	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		A	25899653	C	A	25899653	3	1	17	1	0	0	0	0	1	0	0	0	4881	912	32	3	1541	3	EBF2	8	25899653	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	6583521	25899653	120464369	33	926											
CLU	1191	genome.wustl.edu	37	8	27462678	27462678	+	Missense_Mutation	SNP	G	G	A	rs371872334		TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr8:27462678G>A	ENST00000316403.10	-	5	997	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	CLU_ENST00000523500.1_Missense_Mutation_p.R198W|CLU_ENST00000560366.1_Missense_Mutation_p.R250W|CLU_ENST00000405140.3_Missense_Mutation_p.R198W|CLU_ENST00000546343.1_Missense_Mutation_p.R209W			P10909	CLUS_HUMAN	clusterin	198					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.R250W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGGGGCTCCCGGGTGAAGAAC	0.612																																																1	Substitution - Missense(1)	ovary(1)	8						G	TRP/ARG	0,4406		0,0,2203	86	78	81		592	3.1	0	8		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLU	NM_203339.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	198/450	27462678	1,13005	2203	4300	6503	27518595	SO:0001583	missense	1191			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.592C>T	8.37:g.27462678G>A	ENSP00000315130:p.Arg198Trp		27518595	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	CCDS47832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.624913|2.624913	0.46840|0.46840	0.0|0.0	1.16E-4|1.16E-4	ENSG00000120885|ENSG00000120885	ENST00000522098|ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012;ENST00000520796	.|T;T;T	.|0.23754	.|1.89;1.89;1.89	4.96|4.96	3.07|3.07	0.35406|0.35406	.|Clusterin, N-terminal (1);	.|1.767710	.|0.02481	.|N	.|0.088490	T|T	0.43545|0.43545	0.1252|0.1252	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.998;0.998;0.998	.|P;P;P;P	.|0.57679	.|0.825;0.731;0.731;0.761	T|T	0.04017|0.04017	-1.0984|-1.0984	5|10	.|0.37606	.|T	.|0.19	-5.132|-5.132	5.5388|5.5388	0.17026|0.17026	0.1024:0.0:0.6828:0.2148|0.1024:0.0:0.6828:0.2148	.|.	.|63;250;209;198	.|E7ETA7;P10909-2;P10909-5;P10909	.|.;.;.;CLUS_HUMAN	L|W	60|250;209;198;198;23;63;198	.|ENSP00000446413:R209W;ENSP00000385419:R198W;ENSP00000429620:R198W	.|ENSP00000315130:R250W	P|R	-|-	2|1	0|2	CLU|CLU	27518595|27518595	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	1.014000|1.014000	0.29950|0.29950	0.983000|0.983000	0.38602|0.38602	0.563000|0.563000	0.77884|0.77884	CCG|CGG		0.612	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		A	27462678	G	A	27462678	3	1	17	1	0	0	0	0	1	0	0	0	3568	1115	39	1	777	1	CLU	8	27462678	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	1563025	27462678	118901344	34	927											
RIMS2	9699	genome.wustl.edu	37	8	105010466	105010466	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr8:105010466A>T	ENST00000436393.2	+	16	2673	c.2432A>T	c.(2431-2433)cAc>cTc	p.H811L	RIMS2_ENST00000507740.1_Missense_Mutation_p.H825L|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1095	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.H811L(1)|p.H825L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCATCATCACAGGGATGGC	0.358										HNSCC(12;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	8											125	110	114					8																	105010466		1880	4106	5986	105079642	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2432A>T	8.37:g.105010466A>T	ENSP00000390665:p.His811Leu		105079642	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	A	13.27	2.187964	0.38609	.	.	ENSG00000176406	ENST00000329869;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T	0.18016	2.34;2.24;2.68	4.81	3.62	0.41486	.	.	.	.	.	T	0.07999	0.0200	N	0.08118	0	0.80722	D	1	B;B	0.16166	0.016;0.0	B;B	0.13407	0.009;0.0	T	0.19943	-1.0290	9	0.36615	T	0.2	.	6.2677	0.20936	0.6743:0.1661:0.0:0.1595	.	811;825	D6RA03;Q9UQ26-3	.;.	L	1048;825;825;811	ENSP00000423559:H825L;ENSP00000386228:H825L;ENSP00000390665:H811L	ENSP00000332184:H1048L	H	+	2	0	RIMS2	105079642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.566000	0.45948	0.831000	0.34780	0.528000	0.53228	CAC		0.358	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	105010466	A	T	105010466	3	4	17	1	0	0	0	0	1	0	0	0	13371	159	6	5	3294	5	RIMS2	8	105010466	Missense_Mutation	SNP	A	TCGA-04-1362-01A-01W-0494-09	77547788	105010466	41353556	35	928											
CA9	768	genome.wustl.edu	37	9	35676372	35676372	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr9:35676372G>A	ENST00000378357.4	+	5	930	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	276	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.A276T(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGCCGTGTTGGCCGCCTTTCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	9											100	105	104					9																	35676372		2203	4300	6503	35666372	SO:0001583	missense	768			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.826G>A	9.37:g.35676372G>A	ENSP00000367608:p.Ala276Thr		35666372	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073921	0.55646	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.61510	0.1	4.85	3.94	0.45596	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.090261	0.45126	D	0.000393	T	0.64271	0.2583	L	0.54965	1.715	0.37717	D	0.924766	D;P	0.54047	0.964;0.902	P;B	0.56434	0.798;0.346	T	0.71258	-0.4646	10	0.87932	D	0	.	10.5678	0.45184	0.0:0.0:0.8072:0.1928	.	276;276	F5H404;Q16790	.;CAH9_HUMAN	T	276	ENSP00000367608:A276T	ENSP00000367608:A276T	A	+	1	0	CA9	35666372	1.000000	0.71417	0.959000	0.39883	0.070000	0.16714	4.368000	0.59505	1.380000	0.46344	-0.181000	0.13052	GCC		0.637	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		A	35676372	G	A	35676372	3	1	17	1	0	0	0	0	1	0	0	0	2524	1203	42	2	844	2	CA9	9	35676372	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09		35676372	105537059	36	929											
HEMGN	55363	genome.wustl.edu	37	9	100693217	100693217	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr9:100693217C>A	ENST00000259456.3	-	4	603	c.460G>T	c.(460-462)Gca>Tca	p.A154S		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	154					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.A154S(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTTGTACTGCTATTTCTTGG	0.378																																																1	Substitution - Missense(1)	ovary(1)	9											166	164	165					9																	100693217		2203	4300	6503	99733038	SO:0001583	missense	55363			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.460G>T	9.37:g.100693217C>A	ENSP00000259456:p.Ala154Ser		99733038	Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322630	0.23994	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.46	2.45	0.29901	.	1.665280	0.03222	N	0.177796	T	0.29684	0.0741	L	0.36672	1.1	0.09310	N	1	P	0.38677	0.642	B	0.38458	0.274	T	0.18713	-1.0328	9	0.15499	T	0.54	0.3103	6.6374	0.22891	0.0:0.763:0.0:0.237	.	154	Q9BXL5	HEMGN_HUMAN	S	154	.	ENSP00000259456:A154S	A	-	1	0	HEMGN	99733038	0.053000	0.20554	0.043000	0.18650	0.907000	0.53573	1.017000	0.29989	0.699000	0.31761	0.591000	0.81541	GCA		0.378	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		A	100693217	C	A	100693217	3	1	17	1	0	0	0	0	1	0	0	0	7050	797	28	3	1002	3	HEMGN	9	100693217	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	65016845	100693217	40520214	37	930											
SMC2	10592	genome.wustl.edu	37	9	106887320	106887320	+	Silent	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr9:106887320G>A	ENST00000286398.7	+	18	2673	c.2385G>A	c.(2383-2385)caG>caA	p.Q795Q	SMC2_ENST00000374787.3_Silent_p.Q795Q|SMC2_ENST00000303219.8_Silent_p.Q795Q|SMC2_ENST00000374793.3_Silent_p.Q795Q	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	795					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.Q795Q(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAGATGCTCAGAAAAAACTGG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	9											81	88	85					9																	106887320		2203	4300	6503	105927141	SO:0001819	synonymous_variant	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2385G>A	9.37:g.106887320G>A			105927141	Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	CCDS35086.1																																																																																				0.328	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			A	106887320	G	A	106887320	2	1	17	1	0	0	0	0	0	0	0	1	14786	933	33	2		2	SMC2	9	106887320	Silent	SNP	G	TCGA-04-1362-01A-01W-0494-09	6194103	106887320	34326111	38	931											
SVEP1	79987	genome.wustl.edu	37	9	113169063	113169063	+	Silent	SNP	T	T	G			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr9:113169063T>G	ENST00000401783.2	-	38	9153	c.8817A>C	c.(8815-8817)gcA>gcC	p.A2939A	SVEP1_ENST00000297826.5_Silent_p.A865A|SVEP1_ENST00000374469.1_Silent_p.A2916A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2939	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.A2942A(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGGAATCTCTGCATCCCAGT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	9											182	181	181					9																	113169063		2018	4176	6194	112208884	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8817A>C	9.37:g.113169063T>G			112208884	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113169063	T	G	113169063	2	3	17	1	0	0	0	0	0	0	0	1	15420	1567	55	5		5	SVEP1	9	113169063	Silent	SNP	T	TCGA-04-1362-01A-01W-0494-09	6281743	113169063	28044368	39	932											
CHUK	1147	genome.wustl.edu	37	10	101978483	101978483	+	Silent	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr10:101978483G>A	ENST00000370397.7	-	8	875	c.789C>T	c.(787-789)agC>agT	p.S263S		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.S263S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ACCTACAAAGGCTATTTGGTT	0.388																																					Ovarian(159;52 1904 10536 35305 37148)											1	Substitution - coding silent(1)	ovary(1)	10											111	107	108					10																	101978483		2203	4300	6503	101968473	SO:0001819	synonymous_variant	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.789C>T	10.37:g.101978483G>A			101968473	O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	CCDS7488.1																																																																																				0.388	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		A	101978483	G	A	101978483	2	1	17	1	0	0	0	0	0	0	0	1	3416	1194	42	2		2	CHUK	10	101978483	Silent	SNP	G	TCGA-04-1362-01A-01W-0494-09		101978483	33556264	40	933											
CARS	833	genome.wustl.edu	37	11	3048008	3048008	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr11:3048008C>G	ENST00000397111.5	-	9	1047	c.802G>C	c.(802-804)Gtc>Ctc	p.V268L	CARS_ENST00000380525.4_Missense_Mutation_p.V351L|CARS_ENST00000278224.9_Missense_Mutation_p.V268L|CARS_ENST00000397114.3_Missense_Mutation_p.V258L|CARS_ENST00000401769.3_Missense_Mutation_p.V281L|CARS-AS1_ENST00000499962.1_RNA			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	268					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.V268L(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TCAAAGTAGACAGACCCATTG	0.478			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	1	Substitution - Missense(1)	ovary(1)	11											102	99	100					11																	3048008		2202	4298	6500	3004584	SO:0001583	missense	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.802G>C	11.37:g.3048008C>G	ENSP00000380300:p.Val268Leu		3004584	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456125	0.63401	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.61040	0.14;0.18;0.17;0.17;0.15	4.48	4.48	0.54585	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D;D	0.71674	0.998;0.996;0.989;0.993;0.998;0.989	D;D;D;P;D;D	0.78314	0.991;0.988;0.936;0.894;0.987;0.936	D	0.84913	0.0849	10	0.87932	D	0	-27.8103	17.3559	0.87335	0.0:1.0:0.0:0.0	.	281;351;268;268;351;258	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	L	351;268;268;258;281	ENSP00000369897:V351L;ENSP00000380300:V268L;ENSP00000278224:V268L;ENSP00000380303:V258L;ENSP00000384069:V281L	ENSP00000278224:V268L	V	-	1	0	CARS	3004584	1.000000	0.71417	0.998000	0.56505	0.123000	0.20343	7.189000	0.77747	2.315000	0.78130	0.655000	0.94253	GTC		0.478	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		G	3048008	C	G	3048008	3	3	17	1	0	0	0	0	1	0	0	0	2657	478	17	3	1508	3	CARS	11	3048008	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09		3048008	131958508	41	934											
OR5I1	10798	genome.wustl.edu	37	11	55703285	55703285	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr11:55703285C>T	ENST00000301532.3	-	1	591	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	198					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E198K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGGAGCCACTCATTAATTGTT	0.378																																																1	Substitution - Missense(1)	ovary(1)	11											46	51	50					11																	55703285		2200	4294	6494	55459861	SO:0001583	missense	10798			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.592G>A	11.37:g.55703285C>T	ENSP00000301532:p.Glu198Lys		55459861	Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618481	0.46736	.	.	ENSG00000167825	ENST00000301532	T	0.00207	8.55	5.16	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000215	T	0.00384	0.0012	L	0.45228	1.405	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.59247	-0.7490	10	0.46703	T	0.11	.	12.4122	0.55473	0.0:0.6747:0.3253:0.0	.	198	Q13606	OR5I1_HUMAN	K	198	ENSP00000301532:E198K	ENSP00000301532:E198K	E	-	1	0	OR5I1	55459861	0.093000	0.21703	0.960000	0.40013	0.715000	0.41141	1.143000	0.31553	1.275000	0.44379	-0.189000	0.12847	GAG		0.378	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		T	55703285	C	T	55703285	3	4	17	1	0	0	0	0	1	0	0	0	11164	835	29	2	355	2	OR5I1	11	55703285	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	52655277	55703285	79303231	42	935											
PC	5091	genome.wustl.edu	37	11	66618550	66618550	+	Silent	SNP	T	T	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr11:66618550T>C	ENST00000393958.2	-	16	2277	c.2184A>G	c.(2182-2184)gaA>gaG	p.E728E	PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Silent_p.E728E|PC_ENST00000529047.1_5'Flank|PC_ENST00000393955.2_Silent_p.E728E	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	728	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.E728E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCACCAGCTCTTCGGCCAAGC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	11											58	54	55					11																	66618550		2200	4295	6495	66375126	SO:0001819	synonymous_variant	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2184A>G	11.37:g.66618550T>C			66375126	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																				0.662	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		C	66618550	T	C	66618550	2	2	17	1	0	0	0	0	0	0	0	1	11497	1606	56	4		4	PC	11	66618550	Silent	SNP	T	TCGA-04-1362-01A-01W-0494-09	10915265	66618550	68387966	43	936											
PDE2A	5138	genome.wustl.edu	37	11	72300239	72300239	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr11:72300239G>T	ENST00000334456.5	-	12	1164	c.919C>A	c.(919-921)Cag>Aag	p.Q307K	PDE2A_ENST00000418754.2_Missense_Mutation_p.Q192K|PDE2A_ENST00000540345.1_Missense_Mutation_p.Q298K|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.Q300K|PDE2A_ENST00000444035.2_Missense_Mutation_p.Q298K|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	307	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.Q307K(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TCCTTCAGCTGGATGGACTTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	11											87	67	74					11																	72300239		2200	4293	6493	71977887	SO:0001583	missense	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.919C>A	11.37:g.72300239G>T	ENSP00000334910:p.Gln307Lys		71977887	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	CCDS8216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.044087|3.044087	0.55110|0.55110	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000538299|ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	.|T;T;T;T;T;T	.|0.69040	.|-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.46|5.46	4.48|4.48	0.54585|0.54585	.|GAF (2);	.|2.775740	.|0.01043	.|N	.|0.004323	T|T	0.57873|0.57873	0.2083|0.2083	N|N	0.22421|0.22421	0.69|0.69	0.31327|0.31327	N|N	0.685269|0.685269	.|B;B;B;B;B	.|0.18166	.|0.026;0.007;0.004;0.006;0.016	.|B;B;B;B;B	.|0.15052	.|0.006;0.012;0.003;0.005;0.005	T|T	0.46133|0.46133	-0.9213|-0.9213	5|10	.|0.46703	.|T	.|0.11	.|.	10.0534|10.0534	0.42230|0.42230	0.0:0.0:0.7098:0.2902|0.0:0.0:0.7098:0.2902	.|.	.|192;307;298;300;307	.|E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.|.;PDE2A_HUMAN;.;.;.	Q|K	68|307;298;376;300;192;298;131	.|ENSP00000334910:Q307K;ENSP00000411657:Q298K;ENSP00000442256:Q300K;ENSP00000410310:Q192K;ENSP00000446399:Q298K;ENSP00000439077:Q131K	.|ENSP00000334910:Q307K	P|Q	-|-	2|1	0|0	PDE2A|PDE2A	71977887|71977887	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.371000|3.371000	0.52379|0.52379	2.562000|2.562000	0.86427|0.86427	0.491000|0.491000	0.48974|0.48974	CCA|CAG		0.602	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		T	72300239	G	T	72300239	3	4	17	1	0	0	0	0	1	0	0	0	11636	1357	47	3	1986	3	PDE2A	11	72300239	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	5681689	72300239	62706277	44	937											
HEPHL1	341208	genome.wustl.edu	37	11	93839282	93839282	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr11:93839282A>T	ENST00000315765.9	+	17	3039	c.3031A>T	c.(3031-3033)Agc>Tgc	p.S1011C		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1011	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.S1015G(1)|p.S1015C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCATGCTGAGAGCTTTCTTTT	0.363																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	11											131	129	130					11																	93839282		1880	4113	5993	93478930	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3031A>T	11.37:g.93839282A>T	ENSP00000313699:p.Ser1011Cys		93478930	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888115	0.72524	.	.	ENSG00000181333	ENST00000315765	D	0.99709	-6.48	5.95	4.81	0.61882	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.079544	0.85682	D	0.000000	D	0.99722	0.9892	M	0.92169	3.28	0.37087	D	0.899275	D	0.89917	1.0	D	0.81914	0.995	D	0.97717	1.0194	10	0.62326	D	0.03	-15.9233	12.3335	0.55054	0.9331:0.0:0.0669:0.0	.	1011	Q6MZM0	HPHL1_HUMAN	C	1011	ENSP00000313699:S1011C	ENSP00000313699:S1011C	S	+	1	0	HEPHL1	93478930	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.949000	0.75971	2.279000	0.76181	0.533000	0.62120	AGC		0.363	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93839282	A	T	93839282	3	4	17	1	0	0	0	0	1	0	0	0	7055	304	11	5	3097	5	HEPHL1	11	93839282	Missense_Mutation	SNP	A	TCGA-04-1362-01A-01W-0494-09	21539043	93839282	41167234	45	938											
C11orf63	79864	genome.wustl.edu	37	11	122774724	122774724	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr11:122774724G>C	ENST00000531316.1	+	2	528	c.436G>C	c.(436-438)Gcg>Ccg	p.A146P	C11orf63_ENST00000227349.2_Missense_Mutation_p.A146P|C11orf63_ENST00000307257.6_Missense_Mutation_p.A146P			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	146					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.A146P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTCTGTGGAAGCGTTGCCGGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	11											103	114	110					11																	122774724		2202	4299	6501	122279934	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.436G>C	11.37:g.122774724G>C	ENSP00000431669:p.Ala146Pro		122279934	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831563	0.50845	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.47177	0.85;0.85	5.83	2.61	0.31194	.	0.595915	0.16983	N	0.191630	T	0.54447	0.1859	M	0.63428	1.95	0.09310	N	1	D;D	0.57571	0.98;0.98	P;P	0.58331	0.837;0.837	T	0.43261	-0.9402	10	0.62326	D	0.03	-2.1762	4.5203	0.11956	0.336:0.0:0.5101:0.1538	.	146;146	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	P	146	ENSP00000227349:A146P;ENSP00000431669:A146P	ENSP00000227349:A146P	A	+	1	0	C11orf63	122279934	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.546000	0.23284	0.812000	0.34326	-0.150000	0.13652	GCG		0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		C	122774724	G	C	122774724	3	2	17	1	0	0	0	0	1	0	0	0	1654	971	34	3	442	3	C11orf63	11	122774724	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	28935442	122774724	12231792	46	939											
PZP	5858	genome.wustl.edu	37	12	9355158	9355158	+	Silent	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr12:9355158G>A	ENST00000261336.2	-	3	418	c.390C>T	c.(388-390)gtC>gtT	p.V130V	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	130					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V130V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGTCTGTCTGGACAAAGACCA	0.488																																					Melanoma(125;1402 1695 4685 34487 38571)											1	Substitution - coding silent(1)	ovary(1)	12											145	142	143					12																	9355158		2203	4300	6503	9246425	SO:0001819	synonymous_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.390C>T	12.37:g.9355158G>A			9246425	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.488	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9355158	G	A	9355158	2	1	17	1	0	0	0	0	0	0	0	1	12872	1161	41	2		2	PZP	12	9355158	Silent	SNP	G	TCGA-04-1362-01A-01W-0494-09		9355158	124496737	47	940											
LRRIQ1	84125	genome.wustl.edu	37	12	85466872	85466872	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr12:85466872G>C	ENST00000393217.2	+	11	2944	c.2883G>C	c.(2881-2883)tgG>tgC	p.W961C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	961								p.W961C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTTATACTGGAATTGTAAGt	0.368																																																1	Substitution - Missense(1)	ovary(1)	12											66	65	65					12																	85466872		2203	4300	6503	83991003	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2883G>C	12.37:g.85466872G>C	ENSP00000376910:p.Trp961Cys		83991003	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057293	0.07317	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.24350	1.86	3.49	0.0793	0.14415	.	1.655260	0.03643	U	0.239845	T	0.28797	0.0714	L	0.29908	0.895	0.09310	N	1	D;D	0.62365	0.983;0.991	P;P	0.52881	0.57;0.712	T	0.18085	-1.0348	10	0.62326	D	0.03	.	5.6148	0.17426	0.4829:0.0:0.5171:0.0	.	961;936	Q96JM4;C9JI57	LRIQ1_HUMAN;.	C	961;936;961	ENSP00000376910:W961C	ENSP00000256007:W961C	W	+	3	0	LRRIQ1	83991003	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.438000	0.06905	-0.071000	0.12886	0.655000	0.94253	TGG		0.368	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		C	85466872	G	C	85466872	3	2	17	1	0	0	0	0	1	0	0	0	9029	1183	41	3	2921	3	LRRIQ1	12	85466872	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	76111714	85466872	48385023	48	941											
ACAD10	80724	genome.wustl.edu	37	12	112187149	112187149	+	Splice_Site	SNP	C	C	T	rs144749824	byFrequency	TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr12:112187149C>T	ENST00000313698.4	+	18	2972	c.2817C>T	c.(2815-2817)cgC>cgT	p.R939R	ACAD10_ENST00000455480.2_Splice_Site_p.R970R	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	939						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R939R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGAAGGCCCGCGTGAGTGCTT	0.592													C|||	6	0.00119808	0.0045	0	5008	,	,		19576	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	12						C	,	13,4393	20.2+/-43.8	0,13,2190	38	37	37		2910,2817	-9.4	0.1	12	dbSNP_134	37	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ACAD10	NM_001136538.1,NM_025247.5	,	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	,	970/1091,939/1060	112187149	13,12993	2203	4300	6503	110671532	SO:0001630	splice_region_variant	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2817+1C>T	12.37:g.112187149C>T			110671532	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	CCDS31903.1																																																																																				0.592	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	Silent	T	112187149	C	T	112187149	5	4	17	1	0	0	0	0	0	0	1	0	108	782	27	1	2980	1	ACAD10	12	112187149	Splice_Site	SNP	C	TCGA-04-1362-01A-01W-0494-09	26720277	112187149	21664746	49	942											
DIAPH3	81624	genome.wustl.edu	37	13	60413502	60413502	+	Missense_Mutation	SNP	G	G	A	rs201024887		TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr13:60413502G>A	ENST00000400324.4	-	23	3038	c.2818C>T	c.(2818-2820)Ccc>Tcc	p.P940S	DIAPH3_ENST00000400320.1_Missense_Mutation_p.P894S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P929S|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P870S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P940S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P940S|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	940	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P940S(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCAGGAGGGGGAAAGGTTTCC	0.383																																																1	Substitution - Missense(1)	ovary(1)	13											87	82	84					13																	60413502		1863	4095	5958	59311503	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2818C>T	13.37:g.60413502G>A	ENSP00000383178:p.Pro940Ser		59311503	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648087	0.47258	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	4.8	4.8	0.61643	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.246709	0.42294	D	0.000731	T	0.16300	0.0392	L	0.48218	1.51	0.39162	D	0.962434	B;P	0.44309	0.266;0.832	B;B	0.33254	0.132;0.16	T	0.10132	-1.0643	10	0.56958	D	0.05	.	18.2703	0.90066	0.0:0.0:1.0:0.0	.	677;940	Q9NSV4-1;Q9NSV4	.;DIAP3_HUMAN	S	940;940;929;894;870;929;870;894;940;677;940	ENSP00000383178:P940S;ENSP00000383184:P940S;ENSP00000367141:P929S;ENSP00000383173:P870S;ENSP00000383174:P894S;ENSP00000267215:P940S	ENSP00000267214:P677S	P	-	1	0	DIAPH3	59311503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.589000	0.61006	2.400000	0.81607	0.586000	0.80456	CCC		0.383	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		A	60413502	G	A	60413502	3	1	17	1	0	0	0	0	1	0	0	0	4520	1174	41	2	807	2	DIAPH3	13	60413502	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09		60413502	54756376	50	943											
TDP1	55775	genome.wustl.edu	37	14	90429796	90429799	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	AGAA	AGAA	AGAA	-	AGAA	AGAA	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr14:90429796_90429799delAGAA	ENST00000335725.4	+	3	588_591	c.338_341delAGAA	c.(337-342)gagaaafs	p.EK113fs	TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Frame_Shift_Del_p.EK113fs|TDP1_ENST00000393452.3_Frame_Shift_Del_p.EK113fs|TDP1_ENST00000555880.1_Frame_Shift_Del_p.EK113fs	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	113					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.K114fs*98(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ATCAAAAAGGAGAAAGACATCTCT	0.539								Repair of DNA-protein crosslinks																																								1	Deletion - Frameshift(1)	ovary(1)	14																																								89499552	SO:0001589	frameshift_variant	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.338_341delAGAA	14.37:g.90429796_90429799delAGAA	ENSP00000337353:p.Glu113fs		89499549	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Frame_Shift_Del	DEL	ENST00000335725.4	37	CCDS9888.1																																																																																				0.539	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		-	90429799	AGAA	-	90429796	7	5	17	1	0	1	0	1	0	0	0	0	15728	304	11	0	340	0	TDP1	14	90429796	Frame_Shift_Del	DEL	AGAA	TCGA-04-1362-01A-01W-0494-09		90429796	16919744	51	944											
RTF1	23168	genome.wustl.edu	37	15	41772484	41772484	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr15:41772484G>C	ENST00000389629.4	+	17	1999	c.1987G>C	c.(1987-1989)Gat>Cat	p.D663H		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	663					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.D538H(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAAAGTACACGATTTTGATGT	0.463																																																1	Substitution - Missense(1)	ovary(1)	15											94	85	88					15																	41772484		2203	4300	6503	39559776	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1987G>C	15.37:g.41772484G>C	ENSP00000374280:p.Asp663His		39559776	Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892746	0.91889	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80037	-0.1550	9	0.72032	D	0.01	-18.1576	18.6447	0.91407	0.0:0.0:1.0:0.0	.	663	Q92541	RTF1_HUMAN	H	663	.	ENSP00000374280:D663H	D	+	1	0	RTF1	39559776	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.624000	0.98398	2.392000	0.81423	0.563000	0.77884	GAT		0.463	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		C	41772484	G	C	41772484	3	2	17	1	0	0	0	0	1	0	0	0	13724	1058	37	3	2053	3	RTF1	15	41772484	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09		41772484	60758908	52	945											
SLC28A2	9153	genome.wustl.edu	37	15	45554233	45554233	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr15:45554233G>A	ENST00000347644.3	+	4	256	c.191G>A	c.(190-192)aGc>aAc	p.S64N	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	64					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.S64N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TGGCCTTTCAGCAAAGCAAGA	0.403																																					NSCLC(92;493 1501 26361 28917 47116)											1	Substitution - Missense(1)	ovary(1)	15											179	166	170					15																	45554233		2198	4298	6496	43341525	SO:0001583	missense	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.191G>A	15.37:g.45554233G>A	ENSP00000315006:p.Ser64Asn		43341525	A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	G	3.324	-0.138126	0.06669	.	.	ENSG00000137860	ENST00000347644	D	0.82255	-1.59	5.64	-3.52	0.04682	.	1.424290	0.04030	N	0.301229	T	0.63522	0.2518	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47446	-0.9117	10	0.17832	T	0.49	0.1026	2.0307	0.03529	0.1245:0.3423:0.1265:0.4067	.	64	O43868	S28A2_HUMAN	N	64	ENSP00000315006:S64N	ENSP00000315006:S64N	S	+	2	0	SLC28A2	43341525	0.000000	0.05858	0.007000	0.13788	0.393000	0.30537	-1.282000	0.02799	-0.393000	0.07739	-0.565000	0.04167	AGC		0.403	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		A	45554233	G	A	45554233	3	1	17	1	0	0	0	0	1	0	0	0	14535	971	34	2	201	2	SLC28A2	15	45554233	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09	3781749	45554233	56977159	53	946											
HERC1	8925	genome.wustl.edu	37	15	63952072	63952072	+	Nonsense_Mutation	SNP	A	A	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr15:63952072A>C	ENST00000443617.2	-	47	9374	c.9287T>G	c.(9286-9288)tTa>tGa	p.L3096*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3096					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L3096*(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCAGCAAGTAATTCAAATTC	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	15											77	72	74					15																	63952072		1886	4114	6000	61739125	SO:0001587	stop_gained	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9287T>G	15.37:g.63952072A>C	ENSP00000390158:p.Leu3096*		61739125	Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	A	51	18.077609	0.99899	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	15.8865	0.79255	1.0:0.0:0.0:0.0	.	.	.	.	X	3096	.	ENSP00000390158:L3096X	L	-	2	0	HERC1	61739125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.075000	0.94004	2.143000	0.66587	0.528000	0.53228	TTA		0.408	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		C	63952072	A	C	63952072	4	2	17	1	0	0	0	0	0	1	0	0	7057	372	13	5	5426	5	HERC1	15	63952072	Nonsense_Mutation	SNP	A	TCGA-04-1362-01A-01W-0494-09	18397839	63952072	38579320	54	947											
SEC11A	23478	genome.wustl.edu	37	15	85213257	85213257	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr15:85213257C>T	ENST00000268220.7	-	6	1173	c.533G>A	c.(532-534)cGt>cAt	p.R178H	SEC11A_ENST00000455959.3_Missense_Mutation_p.R152H|SEC11A_ENST00000560266.1_3'UTR|SEC11A_ENST00000558134.1_Missense_Mutation_p.V159M	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	178					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)	p.R178H(1)		ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TTCTTACTCACGATGAACCAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	15											87	77	80					15																	85213257		1929	4138	6067	83014261	SO:0001583	missense	23478			AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"SEC11-like 1 (S. cerevisiae)"	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.533G>A	15.37:g.85213257C>T	ENSP00000268220:p.Arg178His		83014261	B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Missense_Mutation	SNP	ENST00000268220.7	37	CCDS45340.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235277	0.79800	.	.	ENSG00000140612	ENST00000268220;ENST00000455959	.	.	.	5.84	4.9	0.64082	.	0.109676	0.64402	D	0.000004	D	0.84911	0.5577	M	0.93462	3.42	0.54753	D	0.999987	D	0.89917	1.0	D	0.65874	0.939	D	0.88804	0.3287	9	0.87932	D	0	.	13.8946	0.63764	0.1536:0.8464:0.0:0.0	.	178	P67812	SC11A_HUMAN	H	178;152	.	ENSP00000268220:R178H	R	-	2	0	SEC11A	83014261	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.013000	0.70776	1.433000	0.47394	0.655000	0.94253	CGT		0.433	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		T	85213257	C	T	85213257	3	4	17	1	0	0	0	0	1	0	0	0	13981	536	19	1	10	1	SEC11A	15	85213257	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	21261185	85213257	17318135	55	948											
TP53	7157	genome.wustl.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr17:7577609C>T	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAGAGCCAACCTAGGAGATAA	0.527		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"	43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	17	GRCh37	CS011061	TP53	S							89	75	80					17																	7577609		2203	4300	6503	7518334	SO:0001630	splice_region_variant	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.673-1G>A	17.37:g.7577609C>T			7518334	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808655	0.70797	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7577609	C	T	7577609	5	4	17	1	0	0	0	0	0	0	1	0	16381	695	24	2	618	2	TP53	17	7577609	Splice_Site	SNP	C	TCGA-04-1362-01A-01W-0494-09		7577609	73617601	56	949											
JUP	3728	genome.wustl.edu	37	17	39912440	39912442	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	CTC	CTC	CTC	-	CTC	CTC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr17:39912440_39912442delCTC	ENST00000393931.3	-	13	2189_2191	c.2071_2073delGAG	c.(2071-2073)gagdel	p.E691del	JUP_ENST00000393930.1_In_Frame_Del_p.E691del|JUP_ENST00000310706.5_In_Frame_Del_p.E691del|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	691					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.E691del(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCCATAGGGCTCATTGATGGGA	0.562																																					Colon(16;42 520 6044 17852 28530)											1	Deletion - In frame(1)	ovary(1)	17																																								37165968	SO:0001651	inframe_deletion	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2071_2073delGAG	17.37:g.39912440_39912442delCTC	ENSP00000377508:p.Glu691del		37165966	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	In_Frame_Del	DEL	ENST00000393931.3	37	CCDS11407.1																																																																																				0.562	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			-	39912442	CTC	-	39912440	7	5	17	1	0	1	0	1	0	0	0	0	7972	796	28	0	172	0	JUP	17	39912440	In_Frame_Del	DEL	CTC	TCGA-04-1362-01A-01W-0494-09	32334831	39912440	41282770	57	950											
SCRN2	90507	genome.wustl.edu	37	17	45915948	45915948	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr17:45915948T>A	ENST00000290216.9	-	6	1012	c.887A>T	c.(886-888)gAt>gTt	p.D296V	SCRN2_ENST00000584123.1_Missense_Mutation_p.D304V|SCRN2_ENST00000407215.3_Missense_Mutation_p.D296V	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	296						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)	p.D296V(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CTGCGTGGGATCCTGGGGCAG	0.592																																																1	Substitution - Missense(1)	ovary(1)	17											113	102	106					17																	45915948		2203	4300	6503	43270947	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.887A>T	17.37:g.45915948T>A	ENSP00000290216:p.Asp296Val		43270947	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573943	0.65765	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.10005	3.04;2.92	5.51	5.51	0.81932	.	0.247838	0.46442	D	0.000292	T	0.28067	0.0692	M	0.81942	2.565	0.80722	D	1	D;D;D	0.63880	0.986;0.993;0.986	P;P;P	0.56916	0.809;0.809;0.809	T	0.03095	-1.1073	10	0.87932	D	0	-25.2896	10.7187	0.46028	0.0:0.0:0.1597:0.8403	.	296;296;296	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	V	296	ENSP00000290216:D296V;ENSP00000383935:D296V	ENSP00000290216:D296V	D	-	2	0	SCRN2	43270947	0.936000	0.31750	0.996000	0.52242	0.394000	0.30568	4.033000	0.57282	2.088000	0.63022	0.528000	0.53228	GAT		0.592	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		A	45915948	T	A	45915948	3	1	17	1	0	0	0	0	1	0	0	0	13942	1435	50	5	420	5	SCRN2	17	45915948	Missense_Mutation	SNP	T	TCGA-04-1362-01A-01W-0494-09	6003508	45915948	35279262	58	951											
OTOP2	92736	genome.wustl.edu	37	17	72929593	72929593	+	Missense_Mutation	SNP	C	C	T	rs201682015		TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr17:72929593C>T	ENST00000580223.1	+	6	1672	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	OTOP2_ENST00000331427.4_Missense_Mutation_p.R548C|OTOP3_ENST00000328801.4_5'Flank			Q7RTS6	OTOP2_HUMAN	otopetrin 2	548						integral component of membrane (GO:0016021)		p.R548C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CATCTTCTACCGCATGCACGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	17											123	93	103					17																	72929593		2203	4300	6503	70441188	SO:0001583	missense	92736			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1642C>T	17.37:g.72929593C>T	ENSP00000463837:p.Arg548Cys		70441188		Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623497	0.66901	.	.	ENSG00000183034	ENST00000331427	T	0.54866	0.55	4.44	3.45	0.39498	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79145	-0.1924	10	0.87932	D	0	-14.5647	12.606	0.56523	0.2983:0.7017:0.0:0.0	.	548	Q7RTS6	OTOP2_HUMAN	C	548	ENSP00000332528:R548C	ENSP00000332528:R548C	R	+	1	0	OTOP2	70441188	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.310000	0.33551	1.183000	0.42943	0.561000	0.74099	CGC		0.612	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		T	72929593	C	T	72929593	3	4	17	1	0	0	0	0	1	0	0	0	11306	652	23	1	1664	1	OTOP2	17	72929593	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	27013645	72929593	8265617	59	952											
KIAA1012	22878	genome.wustl.edu	37	18	29444598	29444598	+	Silent	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr18:29444598G>A	ENST00000283351.4	-	19	3072	c.2737C>T	c.(2737-2739)Ctg>Ttg	p.L913L	TRAPPC8_ENST00000582539.1_Silent_p.L859L	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	913					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.L913L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACCTCCAACAGTGGCATTTCT	0.323																																																1	Substitution - coding silent(1)	ovary(1)	18											108	104	105					18																	29444598		2203	4300	6503	27698596	SO:0001819	synonymous_variant	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2737C>T	18.37:g.29444598G>A			27698596	A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	CCDS11901.1																																																																																				0.323	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		A	29444598	G	A	29444598	2	1	17	1	0	0	0	0	0	0	0	1	8204	1020	36	2		2	KIAA1012	18	29444598	Silent	SNP	G	TCGA-04-1362-01A-01W-0494-09		29444598	48632650	60	953											
AP1M1	8907	genome.wustl.edu	37	19	16345060	16345060	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr19:16345060G>C	ENST00000291439.3	+	11	1673	c.1224G>C	c.(1222-1224)tgG>tgC	p.W408C	AP1M1_ENST00000444449.2_Missense_Mutation_p.W420C|AP1M1_ENST00000590756.1_Missense_Mutation_p.W336C|AP1M1_ENST00000429941.2_Missense_Mutation_p.W355C|AP1M1_ENST00000541844.1_Missense_Mutation_p.W336C	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	408	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.W408C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCCTGCCCTGGGTGCGTTATA	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											72	61	65					19																	16345060		2203	4300	6503	16206060	SO:0001583	missense	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.1224G>C	19.37:g.16345060G>C	ENSP00000291439:p.Trp408Cys		16206060	Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870809	0.51695	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.25749	1.78;1.78;1.78;1.89	3.58	3.58	0.41010	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77550	-0.2546	10	0.87932	D	0	-23.6006	14.7335	0.69399	0.0:0.0:1.0:0.0	.	355;420;408	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	C	420;408;336;355	ENSP00000388996:W420C;ENSP00000291439:W408C;ENSP00000445682:W336C;ENSP00000411498:W355C	ENSP00000291439:W408C	W	+	3	0	AP1M1	16206060	1.000000	0.71417	0.998000	0.56505	0.410000	0.31052	9.354000	0.97083	2.017000	0.59298	0.561000	0.74099	TGG		0.642	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		C	16345060	G	C	16345060	3	2	17	1	0	0	0	0	1	0	0	0	734	1241	43	3	1306	3	AP1M1	19	16345060	Missense_Mutation	SNP	G	TCGA-04-1362-01A-01W-0494-09		16345060	42783923	61	954											
ZNF229	7772	genome.wustl.edu	37	19	44934173	44934173	+	Silent	SNP	T	T	C			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr19:44934173T>C	ENST00000588931.1	-	6	1216	c.783A>G	c.(781-783)ggA>ggG	p.G261G	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Silent_p.G255G|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	261					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.G261G(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCCATTCTCTCCAGGGTTAA	0.423																																																1	Substitution - coding silent(1)	ovary(1)	19											101	94	96					19																	44934173		1910	4107	6017	49626013	SO:0001819	synonymous_variant	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.783A>G	19.37:g.44934173T>C			49626013	B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	CCDS42574.1																																																																																				0.423	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		C	44934173	T	C	44934173	2	2	17	1	0	0	0	0	0	0	0	1	17782	1538	54	4		4	ZNF229	19	44934173	Silent	SNP	T	TCGA-04-1362-01A-01W-0494-09	28589113	44934173	14194810	62	955											
SON	6651	genome.wustl.edu	37	21	34926882	34926882	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chr21:34926882C>T	ENST00000356577.4	+	3	5820	c.5345C>T	c.(5344-5346)tCt>tTt	p.S1782F	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1782F|SON_ENST00000290239.6_Missense_Mutation_p.S1782F|SON_ENST00000300278.4_Missense_Mutation_p.S1782F	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1782					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S1782F(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCTTCAGAGTCTTCTTCAGAG	0.413																																																1	Substitution - Missense(1)	ovary(1)	21											76	80	79					21																	34926882		2202	4300	6502	33848752	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5345C>T	21.37:g.34926882C>T	ENSP00000348984:p.Ser1782Phe		33848752	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.110163|3.110163	0.56398|0.56398	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.34072	.|1.38;1.38;1.38;1.38	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.47852	.|D	.|0.000208	T|T	0.57417|0.57417	0.2052|0.2052	L|L	0.56769|0.56769	1.78|1.78	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D;D;D;D	.|0.76494	.|0.999;0.995;0.997;0.999;0.999	.|D;D;D;D;D	.|0.85130	.|0.997;0.986;0.994;0.997;0.996	T|T	0.59289|0.59289	-0.7482|-0.7482	5|10	.|0.87932	.|D	.|0	.|.	16.1179|16.1179	0.81321|0.81321	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1782;1782;1463;1782;1782	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	F|F	777|1782	.|ENSP00000348984:S1782F;ENSP00000290239:S1782F;ENSP00000300278:S1782F;ENSP00000371095:S1782F	.|ENSP00000290239:S1782F	L|S	+|+	1|2	0|0	SON|SON	33848752|33848752	0.864000|0.864000	0.29904|0.29904	0.925000|0.925000	0.36789|0.36789	0.905000|0.905000	0.53344|0.53344	2.254000|2.254000	0.43214|0.43214	2.546000|2.546000	0.85860|0.85860	0.591000|0.591000	0.81541|0.81541	CTT|TCT		0.413	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		T	34926882	C	T	34926882	3	4	17	1	0	0	0	0	1	0	0	0	14929	913	32	2	5355	2	SON	21	34926882	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09		34926882	13203013	63	956											
WWC3	55841	genome.wustl.edu	37	X	10035469	10035469	+	Silent	SNP	C	C	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chrX:10035469C>T	ENST00000380861.4	+	3	550	c.159C>T	c.(157-159)gcC>gcT	p.A53A	WWC3_ENST00000454666.1_Silent_p.A53A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	53					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.A53A(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCGAGCTGGCCCAGGAGGAAT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	X											63	53	57					X																	10035469		2203	4300	6503	9995469	SO:0001819	synonymous_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.159C>T	X.37:g.10035469C>T			9995469	A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1																																																																																				0.478	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		T	10035469	C	T	10035469	2	4	17	1	0	0	0	0	0	0	0	1	17413	610	22	2		2	WWC3	23	10035469	Silent	SNP	C	TCGA-04-1362-01A-01W-0494-09		10035469	145235091	64	957											
MAGEB16	139604	genome.wustl.edu	37	X	35820616	35820616	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chrX:35820616T>A	ENST00000399989.1	+	2	582	c.303T>A	c.(301-303)gaT>gaA	p.D101E	MAGEB16_ENST00000399992.1_Missense_Mutation_p.D133E|MAGEB16_ENST00000399988.1_Missense_Mutation_p.D101E|MAGEB16_ENST00000399985.1_Missense_Mutation_p.D101E|MAGEB16_ENST00000399987.1_Missense_Mutation_p.D101E	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	101								p.D268E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCTCAGAGGATACATCAGACC	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											57	53	54					X																	35820616		1957	4160	6117	35730537	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.303T>A	X.37:g.35820616T>A	ENSP00000382871:p.Asp101Glu		35730537	A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978762	0.18812	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.01584	4.77;4.75;4.77;4.77;4.77	3.13	-6.26	0.02033	.	6.402970	0.00166	N	0.000012	T	0.01558	0.0050	L	0.33189	0.99	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.43814	-0.9368	10	0.33141	T	0.24	.	2.5813	0.04819	0.1577:0.451:0.1588:0.2325	.	101	A2A368	MAGBG_HUMAN	E	101;133;101;101;101	ENSP00000382870:D101E;ENSP00000382874:D133E;ENSP00000382869:D101E;ENSP00000382871:D101E;ENSP00000382867:D101E	ENSP00000382867:D101E	D	+	3	2	MAGEB16	35730537	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.641000	0.05434	-1.700000	0.01414	-0.544000	0.04233	GAT		0.473	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			A	35820616	T	A	35820616	3	1	17	1	0	0	0	0	1	0	0	0	9174	1403	49	5	305	5	MAGEB16	23	35820616	Missense_Mutation	SNP	T	TCGA-04-1362-01A-01W-0494-09	25785147	35820616	119449944	65	958											
FAM47C	442444	genome.wustl.edu	37	X	37028413	37028413	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chrX:37028413C>G	ENST00000358047.3	+	1	1982	c.1930C>G	c.(1930-1932)Ccg>Gcg	p.P644A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	644								p.P644A(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAGTCTCCGCCCGGAGCCTCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	X											44	48	47					X																	37028413		2200	4298	6498	36938334	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1930C>G	X.37:g.37028413C>G	ENSP00000367913:p.Pro644Ala		36938334	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	10.33	1.321310	0.23994	.	.	ENSG00000198173	ENST00000358047	T	0.21734	1.99	1.61	-2.25	0.06888	.	.	.	.	.	T	0.21674	0.0522	M	0.80746	2.51	0.09310	N	1	B	0.31548	0.328	B	0.27076	0.076	T	0.16247	-1.0409	9	0.48119	T	0.1	.	6.1048	0.20067	0.0:0.5059:0.0:0.4941	.	644	Q5HY64	FA47C_HUMAN	A	644	ENSP00000367913:P644A	ENSP00000367913:P644A	P	+	1	0	FAM47C	36938334	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.433000	0.06948	-0.609000	0.05724	-0.500000	0.04577	CCG		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		G	37028413	C	G	37028413	3	3	17	1	0	0	0	0	1	0	0	0	5571	623	22	3	1932	3	FAM47C	23	37028413	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	1207797	37028413	118242147	66	959											
ELK1	2002	genome.wustl.edu	37	X	47500736	47500736	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chrX:47500736C>G	ENST00000247161.3	-	2	204	c.105G>C	c.(103-105)aaG>aaC	p.K35N	ELK1_ENST00000376983.3_Missense_Mutation_p.K35N|ELK1_ENST00000343894.4_Missense_Mutation_p.K35N|ELK1_ENST00000592066.1_5'UTR	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	35					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K35N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CATCCACCAGCTTGAATTCAC	0.562																																																1	Substitution - Missense(1)	ovary(1)	X											99	77	84					X																	47500736		2203	4300	6503	47385680	SO:0001583	missense	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.105G>C	X.37:g.47500736C>G	ENSP00000247161:p.Lys35Asn		47385680	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639017	0.67130	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	T;T;T	0.60920	0.15;0.15;0.15	4.89	4.03	0.46877	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.81446	0.4824	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84451	0.0588	10	0.87932	D	0	.	9.8331	0.40954	0.0:0.898:0.0:0.102	.	35	P19419	ELK1_HUMAN	N	35	ENSP00000247161:K35N;ENSP00000366182:K35N;ENSP00000345585:K35N	ENSP00000247161:K35N	K	-	3	2	ELK1	47385680	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.904000	0.39868	1.055000	0.40461	0.506000	0.49869	AAG		0.562	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		G	47500736	C	G	47500736	3	3	17	1	0	0	0	0	1	0	0	0	5059	796	28	3	1201	3	ELK1	23	47500736	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	10472323	47500736	107769824	67	960											
ZCCHC12	170261	genome.wustl.edu	37	X	117959654	117959654	+	Silent	SNP	G	G	A			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chrX:117959654G>A	ENST00000310164.2	+	4	954	c.447G>A	c.(445-447)gtG>gtA	p.V149V		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	149					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V149V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ccctttatgtgatccgtttag	0.488																																																1	Substitution - coding silent(1)	ovary(1)	X											122	122	122					X																	117959654		2203	4300	6503	117843682	SO:0001819	synonymous_variant	170261			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.447G>A	X.37:g.117959654G>A			117843682	B3KV48|Q6PID5|Q8N1C1	Silent	SNP	ENST00000310164.2	37	CCDS14574.1																																																																																				0.488	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		A	117959654	G	A	117959654	2	1	17	1	0	0	0	0	0	0	0	1	17581	1277	45	2		2	ZCCHC12	23	117959654	Silent	SNP	G	TCGA-04-1362-01A-01W-0494-09	70458918	117959654	37310906	68	961											
THOC2	57187	genome.wustl.edu	37	X	122829904	122829904	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1362-01A-01W-0494-09	TCGA-04-1362-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	830e207f-458e-4628-b7bc-287c2f2e12e5	629e5b70-2205-4a40-9575-f69c019edf53	g.chrX:122829904C>T	ENST00000245838.8	-	7	599	c.568G>A	c.(568-570)Gat>Aat	p.D190N	THOC2_ENST00000355725.4_Missense_Mutation_p.D190N|THOC2_ENST00000491737.1_Missense_Mutation_p.D75N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	190					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.D111N(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAGATTAAATCACTAGTAATA	0.289																																																1	Substitution - Missense(1)	ovary(1)	X											51	46	48					X																	122829904		1798	4052	5850	122657585	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.568G>A	X.37:g.122829904C>T	ENSP00000245838:p.Asp190Asn		122657585	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016776	0.54576	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	U	0.000014	T	0.60470	0.2271	L	0.57536	1.79	0.54753	D	0.999989	B;B	0.30326	0.181;0.276	B;B	0.26614	0.022;0.071	T	0.60409	-0.7269	9	0.44086	T	0.13	-14.6816	18.26	0.90031	0.0:1.0:0.0:0.0	.	111;190	B4DKZ6;Q8NI27	.;THOC2_HUMAN	N	190;190;75;111	.	ENSP00000245838:D190N	D	-	1	0	THOC2	122657585	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	6.146000	0.71777	2.250000	0.74265	0.538000	0.68166	GAT		0.289	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			T	122829904	C	T	122829904	3	4	17	1	0	0	0	0	1	0	0	0	15865	826	29	2	4341	2	THOC2	23	122829904	Missense_Mutation	SNP	C	TCGA-04-1362-01A-01W-0494-09	4870250	122829904	32440656	69	962											
ATAD3B	83858	hgsc.bcm.edu	37	1	1424626	1424626	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr1:1424626C>A	ENST00000308647.7	+	13	1425	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	437						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)	p.L437M(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAACGCCTTCCTGTACCACAT	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											132	126	128					1																	1424626		2203	4295	6498	1414489	SO:0001583	missense	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1309C>A	1.37:g.1424626C>A	ENSP00000311766:p.Leu437Met		1414489	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449882	0.43531	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.95482	-3.72	1.57	1.57	0.23409	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.085032	0.51477	D	0.000097	D	0.97377	0.9142	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.97152	0.9832	10	0.87932	D	0	.	11.0805	0.48057	0.0:1.0:0.0:0.0	.	391;437	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	M	239;437	ENSP00000311766:L437M	ENSP00000311766:L437M	L	+	1	2	ATAD3B	1414489	1.000000	0.71417	0.413000	0.26509	0.012000	0.07955	1.587000	0.36622	1.192000	0.43071	0.194000	0.17425	CTG		0.602	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		A	1424626	C	A	1424626	3	1	18	1	0	0	0	0	1	0	0	0	1074	680	24	3	1359	3	ATAD3B	1	1424626	Missense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10		1424626	247825995	1	963											
UBE4B	10277	hgsc.bcm.edu	37	1	10231358	10231358	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr1:10231358C>T	ENST00000253251.8	+	24	3948	c.3109C>T	c.(3109-3111)Cgg>Tgg	p.R1037W	UBE4B_ENST00000343090.6_Missense_Mutation_p.R1166W|UBE4B_ENST00000377157.3_Missense_Mutation_p.R921W					ubiquitination factor E4B									p.R1037W(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GGACTGTGCTCGGTTCGCGAA	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											110	107	108					1																	10231358		2203	4300	6503	10153945	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3109C>T	1.37:g.10231358C>T	ENSP00000253251:p.Arg1037Trp		10153945		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020472	0.75275	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.44482	0.92;0.92;0.92	5.91	5.91	0.95273	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67900	0.954;0.93	T	0.59193	-0.7500	10	0.72032	D	0.01	-22.5815	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1166;1037	O95155;O95155-2	UBE4B_HUMAN;.	W	1037;921;1166	ENSP00000253251:R1037W;ENSP00000366362:R921W;ENSP00000343001:R1166W	ENSP00000253251:R1037W	R	+	1	2	UBE4B	10153945	1.000000	0.71417	0.542000	0.28115	0.303000	0.27691	5.981000	0.70524	2.793000	0.96121	0.655000	0.94253	CGG		0.488	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		T	10231358	C	T	10231358	3	4	18	1	0	0	0	0	1	0	0	0	16883	875	31	1	3594	1	UBE4B	1	10231358	Missense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10	8806732	10231358	239019263	2	964											
NBPF1	55672	hgsc.bcm.edu	37	1	16891363	16891365	+	In_Frame_Del	DEL	TCG	TCG	-	rs2289552		TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	TCG	TCG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr1:16891363_16891365delTCG	ENST00000430580.2	-	28	4000_4002	c.3113_3115delCGA	c.(3112-3117)acgaag>aag	p.T1038del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		cttcttttcttcgttgatcttct	0.419																																																0			1																																								16763952	SO:0001651	inframe_deletion	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3113_3115delCGA	1.37:g.16891363_16891365delTCG	ENSP00000474456:p.Thr1038del		16763950	Q8N4E8|Q9C0H0	In_Frame_Del	DEL	ENST00000430580.2	37																																																																																					0.419	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		-	16891365	TCG	-	16891363	7	5	18	1	0	1	0	1	0	0	0	0	10192	1792	62	0	312	0	NBPF1	1	16891363	In_Frame_Del	DEL	TCG	TCGA-04-1364-01A-01W-0490-10	6660005	16891363	232359258	3	965											
CDC73	79577	hgsc.bcm.edu	37	1	193181559	193181559	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr1:193181559C>A	ENST00000367435.3	+	13	1290	c.1106C>A	c.(1105-1107)aCc>aAc	p.T369N		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	369	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.T369N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GCAGCTACCACCTCTTTAATA	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											143	159	153					1																	193181559		2203	4298	6501	191448182	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1106C>A	1.37:g.193181559C>A	ENSP00000356405:p.Thr369Asn		191448182	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.354238|4.354238	0.82243|0.82243	.|.	.|.	ENSG00000134371|ENSG00000134371	ENST00000445394|ENST00000367435	.|T	.|0.63580	.|-0.05	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66046|0.66046	0.2750|0.2750	L|L	0.50847|0.50847	1.595|1.595	0.80722|0.80722	D|D	1|1	.|P	.|0.50066	.|0.931	.|P	.|0.46940	.|0.532	T|T	0.63386|0.63386	-0.6649|-0.6649	6|10	0.72032|0.40728	D|T	0.01|0.16	-12.2481|-12.2481	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|369	.|Q6P1J9	.|CDC73_HUMAN	Q|N	310|369	.|ENSP00000356405:T369N	ENSP00000398808:H310Q|ENSP00000356405:T369N	H|T	+|+	3|2	2|0	CDC73|CDC73	191448182|191448182	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	6.911000|6.911000	0.75746|0.75746	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAC|ACC		0.318	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		A	193181559	C	A	193181559	3	1	18	1	0	0	0	0	1	0	0	0	3085	507	18	3	1156	3	CDC73	1	193181559	Missense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10	176290196	193181559	56069062	4	966											
MYT1L	23040	hgsc.bcm.edu	37	2	1891311	1891311	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr2:1891311C>A	ENST00000399161.2	-	17	3338	c.2591G>T	c.(2590-2592)aGt>aTt	p.S864I	MYT1L_ENST00000428368.2_Missense_Mutation_p.S862I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	864					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S864I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGTTTGGGACTTGGGATGGT	0.483																																																1	Substitution - Missense(1)	ovary(1)	2											185	181	182					2																	1891311		1923	4132	6055	1870318	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2591G>T	2.37:g.1891311C>A	ENSP00000382114:p.Ser864Ile		1870318	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.450401	0.84101	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.56103	0.48;0.48	5.55	5.55	0.83447	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73380	0.98;0.961	T	0.78109	-0.2332	10	0.72032	D	0.01	-27.8399	19.5067	0.95121	0.0:1.0:0.0:0.0	.	864;862	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	I	864;810;862	ENSP00000382114:S864I;ENSP00000396103:S862I	ENSP00000295067:S810I	S	-	2	0	MYT1L	1870318	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.658000	0.68003	2.609000	0.88269	0.650000	0.86243	AGT		0.483	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		A	1891311	C	A	1891311	3	1	18	1	0	0	0	0	1	0	0	0	10107	565	20	3	1005	3	MYT1L	2	1891311	Missense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10		1891311	241308062	5	967											
BCL11A	53335	hgsc.bcm.edu	37	2	60689485	60689485	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr2:60689485G>A	ENST00000335712.6	-	4	789	c.562C>T	c.(562-564)Cac>Tac	p.H188Y	BCL11A_ENST00000358510.4_Missense_Mutation_p.H154Y|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.H36Y|BCL11A_ENST00000359629.5_Missense_Mutation_p.H188Y|BCL11A_ENST00000538214.1_Missense_Mutation_p.H154Y|BCL11A_ENST00000356842.4_Missense_Mutation_p.H188Y	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	188	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)	p.H188Y(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTCTGTGCGTGTTGCAAGAGA	0.473			T	IGH@	B-CLL																																		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	1	Substitution - Missense(1)	ovary(1)	2											94	94	94					2																	60689485		2203	4300	6503	60542989	SO:0001583	missense	53335			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.562C>T	2.37:g.60689485G>A	ENSP00000338774:p.His188Tyr		60542989	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313205	0.81358	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T;T	0.76709	0.99;-1.04;0.51;-1.04;-1.04;0.54	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.75615	2.305	0.40991	D	0.984856	D;P;P;D;D;D	0.89917	0.999;0.851;0.908;1.0;0.996;1.0	D;P;P;D;D;D	0.91635	0.999;0.775;0.888;0.999;0.986;0.999	D	0.89012	0.3429	10	0.66056	D	0.02	-3.0925	20.0332	0.97547	0.0:0.0:1.0:0.0	.	154;36;154;188;188;188	F5H2Y4;B4DT16;Q9H165-6;Q9H165;Q9H165-3;D9YZV9	.;.;.;BC11A_HUMAN;.;.	Y	188;188;224;154;36;188;154	ENSP00000349300:H188Y;ENSP00000352648:H188Y;ENSP00000438303:H154Y;ENSP00000443712:H36Y;ENSP00000338774:H188Y;ENSP00000351307:H154Y	ENSP00000338774:H188Y	H	-	1	0	BCL11A	60542989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.749000	0.94314	0.491000	0.48974	CAC		0.473	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		A	60689485	G	A	60689485	3	1	18	1	0	0	0	0	1	0	0	0	1363	1377	48	2	2055	2	BCL11A	2	60689485	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10	58798174	60689485	182509888	6	968											
PGAP1	80055	hgsc.bcm.edu	37	2	197737199	197737199	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr2:197737199A>C	ENST00000354764.4	-	18	1808	c.1694T>G	c.(1693-1695)tTt>tGt	p.F565C	PGAP1_ENST00000409475.1_Missense_Mutation_p.F565C	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	565					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.F565C(3)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTACATTTTAAATAATGCCAC	0.323																																																3	Substitution - Missense(3)	ovary(2)|large_intestine(1)	2											106	104	104					2																	197737199		2203	4300	6503	197445444	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1694T>G	2.37:g.197737199A>C	ENSP00000346809:p.Phe565Cys		197445444	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518077	0.44763	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	5.06	5.06	0.68205	.	0.078689	0.53938	D	0.000060	T	0.36386	0.0965	N	0.08118	0	0.80722	D	1	B;B	0.32507	0.373;0.187	B;B	0.36418	0.224;0.121	T	0.44329	-0.9335	9	0.87932	D	0	-6.0755	13.1918	0.59715	1.0:0.0:0.0:0.0	.	565;565	Q75T13-3;Q75T13	.;PGAP1_HUMAN	C	345;565;565	.	ENSP00000346809:F565C	F	-	2	0	PGAP1	197445444	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.462000	0.66707	2.141000	0.66446	0.477000	0.44152	TTT		0.323	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		C	197737199	A	C	197737199	3	2	18	1	0	0	0	0	1	0	0	0	11777	14	1	5	1114	5	PGAP1	2	197737199	Missense_Mutation	SNP	A	TCGA-04-1364-01A-01W-0490-10	137047714	197737199	45462174	7	969											
PDE12	201626	hgsc.bcm.edu	37	3	57542932	57542932	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr3:57542932A>T	ENST00000311180.8	+	1	929	c.826A>T	c.(826-828)Acc>Tcc	p.T276S	PDE12_ENST00000487257.1_Missense_Mutation_p.T276S	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	276					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.T276S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGGCCTGGCACCTGCACTTT	0.592																																					Colon(125;308 1634 19198 50622 50717)											1	Substitution - Missense(1)	ovary(1)	3											85	84	85					3																	57542932		2203	4300	6503	57517972	SO:0001583	missense	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.826A>T	3.37:g.57542932A>T	ENSP00000309142:p.Thr276Ser		57517972	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	A	9.230	1.035505	0.19590	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.23754	1.89;1.92	5.18	3.8	0.43715	.	0.553767	0.20646	N	0.088317	T	0.12732	0.0309	L	0.27053	0.805	0.25553	N	0.987066	B;B	0.18310	0.016;0.027	B;B	0.21917	0.017;0.037	T	0.33445	-0.9868	10	0.06757	T	0.87	-21.7025	3.7601	0.08601	0.6146:0.2246:0.1608:0.0	.	276;276	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	S	276	ENSP00000420626:T276S;ENSP00000309142:T276S	ENSP00000309142:T276S	T	+	1	0	PDE12	57517972	0.982000	0.34865	1.000000	0.80357	0.850000	0.48378	2.236000	0.43052	1.957000	0.56846	0.459000	0.35465	ACC		0.592	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		T	57542932	A	T	57542932	3	4	18	1	0	0	0	0	1	0	0	0	11632	159	6	5	828	5	PDE12	3	57542932	Missense_Mutation	SNP	A	TCGA-04-1364-01A-01W-0490-10		57542932	140479498	8	970											
EPHA6	285220	hgsc.bcm.edu	37	3	96706268	96706268	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr3:96706268G>C	ENST00000389672.5	+	3	583	c.545G>C	c.(544-546)cGt>cCt	p.R182P	EPHA6_ENST00000542517.1_Missense_Mutation_p.R88P|EPHA6_ENST00000470610.2_Missense_Mutation_p.R182P	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	88	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R88H(2)|p.R88P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AACTGGCTTCGTACAAACTGG	0.433																																																4	Substitution - Missense(4)	ovary(2)|stomach(2)	3											96	95	95					3																	96706268		1880	4105	5985	98188958	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.545G>C	3.37:g.96706268G>C	ENSP00000374323:p.Arg182Pro		98188958	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963717	0.74016	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.04234	3.67;3.67;3.67	5.74	5.74	0.90152	.	0.315711	0.27836	U	0.017648	T	0.28962	0.0719	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.06391	-1.0829	10	0.87932	D	0	.	15.0648	0.71986	0.0696:0.0:0.9304:0.0	.	182;182	B3KS12;E7EU71	.;.	P	182;182;88	ENSP00000420598:R182P;ENSP00000374323:R182P;ENSP00000439758:R88P	ENSP00000374323:R182P	R	+	2	0	EPHA6	98188958	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	5.559000	0.67326	2.703000	0.92315	0.655000	0.94253	CGT		0.433	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		C	96706268	G	C	96706268	3	2	18	1	0	0	0	0	1	0	0	0	5171	1145	40	3	555	3	EPHA6	3	96706268	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10	39163336	96706268	101316162	9	971											
IMPG2	50939	hgsc.bcm.edu	37	3	100964726	100964726	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr3:100964726G>C	ENST00000193391.7	-	12	1650	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	488					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.S488C(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CGGGGTGACAGAATGAAGAGT	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											107	110	109					3																	100964726		2203	4300	6503	102447416	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1463C>G	3.37:g.100964726G>C	ENSP00000193391:p.Ser488Cys		102447416	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121155	0.77436	.	.	ENSG00000081148	ENST00000193391	T	0.25912	1.77	6.02	6.02	0.97574	.	0.377447	0.25055	N	0.033490	T	0.30603	0.0770	L	0.32530	0.975	0.36409	D	0.863631	D;D	0.69078	0.997;0.997	P;P	0.55667	0.781;0.781	T	0.18840	-1.0324	10	0.51188	T	0.08	-5.4965	9.3737	0.38270	0.1178:0.0:0.8822:0.0	.	488;488	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	C	488	ENSP00000193391:S488C	ENSP00000193391:S488C	S	-	2	0	IMPG2	102447416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.107000	0.50329	2.857000	0.98124	0.650000	0.86243	TCT		0.478	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			C	100964726	G	C	100964726	3	2	18	1	0	0	0	0	1	0	0	0	7729	942	33	3	2294	3	IMPG2	3	100964726	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10	4258458	100964726	97057704	10	972											
ZMAT3	64393	hgsc.bcm.edu	37	3	178745286	178745286	+	Missense_Mutation	SNP	G	G	A	rs371485386		TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr3:178745286G>A	ENST00000311417.2	-	5	1324	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R195W	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3									p.R195W(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCCTGGCCCGCCGTTGACCC	0.393																																																1	Substitution - Missense(1)	ovary(1)	3						G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	78	85	82		583,583	0.7	0.7	3		82	0,8600		0,0,4300	no	missense,missense	ZMAT3	NM_022470.3,NM_152240.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	195/290,195/289	178745286	1,13005	2203	4300	6503	180227980	SO:0001583	missense	64393			AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"Zinc fingers, matrin-type"	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.583C>T	3.37:g.178745286G>A	ENSP00000311221:p.Arg195Trp		180227980		Missense_Mutation	SNP	ENST00000311417.2	37	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887609	0.72410	2.27E-4	0.0	ENSG00000172667	ENST00000311417;ENST00000432729	T;T	0.57752	0.54;0.38	5.61	0.712	0.18167	.	0.049580	0.85682	D	0.000000	T	0.57932	0.2087	L	0.32530	0.975	0.51012	D	0.999905	D;D	0.76494	0.999;0.999	D;P	0.64687	0.928;0.849	T	0.59632	-0.7418	10	0.56958	D	0.05	-26.2453	14.9168	0.70805	0.0:0.0:0.3375:0.6625	.	195;195	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	W	195	ENSP00000311221:R195W;ENSP00000396506:R195W	ENSP00000311221:R195W	R	-	1	2	ZMAT3	180227980	0.880000	0.30214	0.697000	0.30258	0.987000	0.75469	0.457000	0.21875	0.141000	0.18875	0.655000	0.94253	CGG		0.393	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		A	178745286	G	A	178745286	3	1	18	1	0	0	0	0	1	0	0	0	17693	1086	38	1	294	1	ZMAT3	3	178745286	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10	77780560	178745286	19277144	11	973											
KCTD8	386617	hgsc.bcm.edu	37	4	44177010	44177010	+	Missense_Mutation	SNP	G	G	A	rs143160739		TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr4:44177010G>A	ENST00000360029.3	-	2	1502	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	407					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.R407S(1)|p.R407C(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGTTTCTGCGTTTGTCTGGT	0.463										HNSCC(17;0.042)																																						2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)	4						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	208	214	212		1219	3.9	1	4	dbSNP_134	212	0,8600		0,0,4300	no	missense	KCTD8	NM_198353.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	407/474	44177010	1,13005	2203	4300	6503	43871767	SO:0001583	missense	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1219C>T	4.37:g.44177010G>A	ENSP00000353129:p.Arg407Cys		43871767	A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692140	0.30052	2.27E-4	0.0	ENSG00000183783	ENST00000360029	T	0.44881	0.91	4.76	3.9	0.45041	.	0.120720	0.35151	N	0.003420	T	0.52092	0.1713	L	0.32530	0.975	0.50813	D	0.999892	D	0.89917	1.0	D	0.75020	0.985	T	0.56739	-0.7929	10	0.87932	D	0	.	13.8329	0.63391	0.0:0.0:0.846:0.154	.	407	Q6ZWB6	KCTD8_HUMAN	C	407	ENSP00000353129:R407C	ENSP00000353129:R407C	R	-	1	0	KCTD8	43871767	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	4.675000	0.61619	1.338000	0.45544	0.650000	0.86243	CGC		0.463	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			A	44177010	G	A	44177010	3	1	18	1	0	0	0	0	1	0	0	0	8115	1145	40	1	206	1	KCTD8	4	44177010	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10		44177010	146977266	12	974											
SNCB	6620	hgsc.bcm.edu	37	5	176048262	176048262	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr5:176048262C>T	ENST00000310112.3	-	6	575	c.325G>A	c.(325-327)Gag>Aag	p.E109K	SNCB_ENST00000393693.2_Missense_Mutation_p.E109K|SNCB_ENST00000506696.1_Missense_Mutation_p.E109K|SNCB_ENST00000510387.1_Missense_Mutation_p.E109K	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	109					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)	p.E109K(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCAGGGGCTCAATCAGTGGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	5											61	60	60					5																	176048262		2203	4300	6503	175980868	SO:0001583	missense	6620			AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.325G>A	5.37:g.176048262C>T	ENSP00000308057:p.Glu109Lys		175980868	Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820669	0.71028	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	4.98	4.98	0.66077	.	0.060456	0.64402	D	0.000004	D	0.86598	0.5971	L	0.38175	1.15	0.80722	D	1	D	0.52996	0.957	D	0.65233	0.933	D	0.85969	0.1475	10	0.38643	T	0.18	-13.1542	18.246	0.89986	0.0:1.0:0.0:0.0	.	109	Q16143	SYUB_HUMAN	K	109	ENSP00000308057:E109K;ENSP00000377296:E109K;ENSP00000424073:E109K;ENSP00000422223:E109K	ENSP00000308057:E109K	E	-	1	0	SNCB	175980868	1.000000	0.71417	0.985000	0.45067	0.725000	0.41563	5.908000	0.69916	2.315000	0.78130	0.650000	0.86243	GAG		0.602	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		T	176048262	C	T	176048262	3	4	18	1	0	0	0	0	1	0	0	0	14845	835	29	2	87	2	SNCB	5	176048262	Missense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10		176048262	4866998	13	975											
BAT5	7920	hgsc.bcm.edu	37	6	31669881	31669881	+	Silent	SNP	C	C	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr6:31669881C>T	ENST00000395952.3	-	2	321	c.159G>A	c.(157-159)ctG>ctA	p.L53L	ABHD16A_ENST00000440843.2_Intron|ABHD16A_ENST00000538874.1_5'UTR|MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000375842.4_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	53						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.L53L(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CATGTTTCTCCAGGGCACGGG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	6											157	106	124					6																	31669881		1511	2709	4220	31777860	SO:0001819	synonymous_variant	7920			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.159G>A	6.37:g.31669881C>T			31777860	A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Silent	SNP	ENST00000395952.3	37	CCDS4713.1																																																																																				0.562	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			T	31669881	C	T	31669881	2	4	18	1	0	0	0	0	0	0	0	1	1324	581	21	2		2	BAT5	6	31669881	Silent	SNP	C	TCGA-04-1364-01A-01W-0490-10		31669881	139445186	14	976											
RUNX2	860	hgsc.bcm.edu	37	6	45514707	45514707	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr6:45514707G>A	ENST00000371438.1	+	8	1589	c.1231G>A	c.(1231-1233)Ggt>Agt	p.G411S	RUNX2_ENST00000541979.1_Missense_Mutation_p.G457S|RUNX2_ENST00000465038.2_Missense_Mutation_p.G411S|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371436.6_Missense_Mutation_p.G389S|RUNX2_ENST00000352853.5_Missense_Mutation_p.G479S|RUNX2_ENST00000359524.5_Missense_Mutation_p.G397S|RUNX2_ENST00000371432.3_Missense_Mutation_p.G375S	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	411	Interaction with KAT6A. {ECO:0000250}.|Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G411S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CATGTCCCTCGGTATGTCCGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											147	116	126					6																	45514707		2203	4300	6503	45622685	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1231G>A	6.37:g.45514707G>A	ENSP00000360493:p.Gly411Ser		45622685	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109934	0.77210	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.97328	-4.29;-4.34;-4.26;-4.29;-4.25;-4.3;-4.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.96781	0.8949	L	0.41710	1.295	0.80722	D	1	D;D;D	0.76494	0.986;0.998;0.999	P;P;P	0.62560	0.555;0.762;0.904	D	0.95328	0.8427	10	0.31617	T	0.26	-6.6236	19.922	0.97089	0.0:0.0:1.0:0.0	.	457;411;397	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	S	411;479;457;411;389;397;375	ENSP00000420707:G411S;ENSP00000319087:G479S;ENSP00000446290:G457S;ENSP00000360493:G411S;ENSP00000360491:G389S;ENSP00000352514:G397S;ENSP00000360486:G375S	ENSP00000319087:G479S	G	+	1	0	RUNX2	45622685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.780000	0.95670	0.655000	0.94253	GGT		0.577	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45514707	G	A	45514707	3	1	18	1	0	0	0	0	1	0	0	0	13751	1116	39	1	1277	1	RUNX2	6	45514707	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10	13844826	45514707	125600360	15	977											
C6orf168	84553	hgsc.bcm.edu	37	6	99739653	99739653	+	Silent	SNP	G	G	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr6:99739653G>A	ENST00000389677.5	-	5	1149	c.867C>T	c.(865-867)gaC>gaT	p.D289D	FAXC_ENST00000538471.1_Silent_p.D9D	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	289						integral component of membrane (GO:0016021)		p.D289D(1)									AGACAGTGGCGTCAAGAGTGG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	6											189	175	180					6																	99739653		2203	4300	6503	99846374	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.867C>T	6.37:g.99739653G>A			99846374	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Silent	SNP	ENST00000389677.5	37	CCDS34500.1																																																																																				0.512	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		A	99739653	G	A	99739653	2	1	18	1	0	0	0	0	0	0	0	1	2343	1136	40	1		1	C6orf168	6	99739653	Silent	SNP	G	TCGA-04-1364-01A-01W-0490-10	54224946	99739653	71375414	16	978											
GTF2IRD1	9569	hgsc.bcm.edu	37	7	74005218	74005218	+	Silent	SNP	C	C	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr7:74005218C>T	ENST00000265755.3	+	24	2901	c.2508C>T	c.(2506-2508)gaC>gaT	p.D836D	GTF2IRD1_ENST00000424337.2_Silent_p.D821D|GTF2IRD1_ENST00000455841.2_Silent_p.D853D|GTF2IRD1_ENST00000476977.1_Silent_p.D821D	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	836					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D836D(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAGCCCAGACGCCGTGGAGG	0.602																																																2	Substitution - coding silent(2)	ovary(2)	7											61	55	57					7																	74005218		2203	4300	6503	73643154	SO:0001819	synonymous_variant	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2508C>T	7.37:g.74005218C>T			73643154	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	1.456	-0.563771	0.03939	.	.	ENSG00000006704	ENST00000470715	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.59418	0.2192	.	.	.	0.41778	D	0.989804	.	.	.	.	.	.	T	0.76865	-0.2801	4	.	.	.	-17.5779	15.5739	0.76359	0.0808:0.6979:0.0818:0.1395	.	.	.	.	C	199	.	.	R	+	1	0	GTF2IRD1	73643154	0.000000	0.05858	0.017000	0.16124	0.205000	0.24178	-3.385000	0.00489	-3.796000	0.00106	-2.069000	0.00389	CGC		0.602	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		T	74005218	C	T	74005218	2	4	18	1	0	0	0	0	0	0	0	1	6868	535	19	1		1	GTF2IRD1	7	74005218	Silent	SNP	C	TCGA-04-1364-01A-01W-0490-10		74005218	85133445	17	979											
DOK2	9046	hgsc.bcm.edu	37	8	21767059	21767060	+	Frame_Shift_Ins	INS	-	-	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr8:21767059_21767060insA	ENST00000276420.4	-	5	1259_1260	c.1001_1002insT	c.(1000-1002)gagfs	p.E334fs	DOK2_ENST00000544659.1_Frame_Shift_Ins_p.E180fs	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	334	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.E334fs*9(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCAGGGTCTCCTCAATGCTGTC	0.639																																																1	Insertion - Frameshift(1)	ovary(1)	8																																								21823006	SO:0001589	frameshift_variant	9046			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.1001_1002insT	8.37:g.21767059_21767060insA	ENSP00000276420:p.Glu334fs		21823005	Q8N5A4	Frame_Shift_Ins	INS	ENST00000276420.4	37	CCDS6016.1																																																																																				0.639	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		A	21767060	-	A	21767059	7	5	18	1	0	1	1	0	0	0	0	0	4697	680	24	0	240	0	DOK2	8	21767059	Frame_Shift_Ins	INS	-	TCGA-04-1364-01A-01W-0490-10		21767059	124596963	18	980											
TACC1	6867	hgsc.bcm.edu	37	8	38677207	38677207	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr8:38677207G>A	ENST00000317827.4	+	3	824	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	TACC1_ENST00000518415.1_Missense_Mutation_p.V104M|TACC1_ENST00000379931.3_Missense_Mutation_p.V149M|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.V113M|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.V165M|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000276520.8_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	149					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.V149M(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AATTTCCATCGTGAGGCCATT	0.448																																																1	Substitution - Missense(1)	ovary(1)	8											97	94	95					8																	38677207		2203	4300	6503	38796364	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.445G>A	8.37:g.38677207G>A	ENSP00000321703:p.Val149Met		38796364	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404520	0.42613	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.12774	2.84;2.83;2.65;2.87;2.88	5.48	5.48	0.80851	.	0.176346	0.37178	N	0.002202	T	0.31136	0.0787	M	0.69823	2.125	0.29281	N	0.870035	D;D;D	0.89917	0.981;1.0;0.999	P;P;D	0.64687	0.474;0.894;0.928	T	0.14559	-1.0468	10	0.36615	T	0.2	-10.6275	10.382	0.44117	0.0893:0.0:0.9107:0.0	.	165;149;104	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	M	165;104;121;149;149	ENSP00000393647:V165M;ENSP00000428706:V104M;ENSP00000430355:V121M;ENSP00000321703:V149M;ENSP00000369263:V149M	ENSP00000321703:V149M	V	+	1	0	TACC1	38796364	0.998000	0.40836	0.953000	0.39169	0.150000	0.21749	3.109000	0.50345	2.563000	0.86464	0.563000	0.77884	GTG		0.448	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		A	38677207	G	A	38677207	3	1	18	1	0	0	0	0	1	0	0	0	15501	1145	40	1	455	1	TACC1	8	38677207	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10	16910148	38677207	107686815	19	981											
CHST15	51363	hgsc.bcm.edu	37	10	125798162	125798162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr10:125798162C>T	ENST00000346248.5	-	5	1701	c.1059G>A	c.(1057-1059)tgG>tgA	p.W353*	CHST15_ENST00000421115.1_Nonsense_Mutation_p.W353*|CHST15_ENST00000435907.1_Nonsense_Mutation_p.W353*	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	353					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.W353*(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CATTATTATCCCACATCGTGG	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	10											95	79	84					10																	125798162		2203	4300	6503	125788152	SO:0001587	stop_gained	51363			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1059G>A	10.37:g.125798162C>T	ENSP00000333947:p.Trp353*		125788152	O60338|O60474|Q86VM4	Nonsense_Mutation	SNP	ENST00000346248.5	37	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	47	13.007337	0.99713	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8109	19.3887	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	X	353	.	ENSP00000333947:W353X	W	-	3	0	CHST15	125788152	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.615000	0.83006	2.826000	0.97356	0.655000	0.94253	TGG		0.567	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		T	125798162	C	T	125798162	4	4	18	1	0	0	0	0	0	1	0	0	3403	624	22	2	642	2	CHST15	10	125798162	Nonsense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10		125798162	9736585	20	982											
SYNE2	23224	hgsc.bcm.edu	37	14	64685176	64685176	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr14:64685176G>C	ENST00000344113.4	+	108	19746	c.19534G>C	c.(19534-19536)Ggc>Cgc	p.G6512R	SYNE2_ENST00000441438.2_Missense_Mutation_p.G43R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.G2897R|SYNE2_ENST00000394768.2_Missense_Mutation_p.G2897R|SYNE2_ENST00000358025.3_Missense_Mutation_p.G6535R|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.G3169R|SYNE2_ENST00000554805.1_Missense_Mutation_p.G295R|SYNE2_ENST00000555022.1_Missense_Mutation_p.G390R|SYNE2_ENST00000458046.2_Missense_Mutation_p.G169R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6512					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.G6535R(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTCCTGAATGGCAACCCACA	0.527																																																1	Substitution - Missense(1)	ovary(1)	14											72	74	73					14																	64685176		2203	4300	6503	63754929	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19534G>C	14.37:g.64685176G>C	ENSP00000341781:p.Gly6512Arg		63754929	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632602	0.29068	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.47869	0.83;4.14;0.84;4.17;4.14;3.8;3.32;2.96;2.79	5.03	3.1	0.35709	.	0.403035	0.21357	N	0.075876	T	0.52273	0.1724	L	0.60455	1.87	0.29672	N	0.842383	P;B;P;P;B;B;D	0.65815	0.818;0.292;0.935;0.935;0.286;0.073;0.995	B;B;P;P;B;B;P	0.57960	0.219;0.137;0.664;0.491;0.187;0.029;0.83	T	0.48779	-0.9005	10	0.33940	T	0.23	.	5.2163	0.15344	0.1082:0.0:0.6917:0.2001	.	169;2897;43;169;900;6512;6535	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	R	6535;2897;6512;3169;2897;390;295;169;43	ENSP00000350719:G6535R;ENSP00000349969:G2897R;ENSP00000341781:G6512R;ENSP00000450831:G3169R;ENSP00000378249:G2897R;ENSP00000451009:G390R;ENSP00000450605:G295R;ENSP00000391937:G169R;ENSP00000396794:G43R	ENSP00000341781:G6512R	G	+	1	0	SYNE2	63754929	0.962000	0.33011	0.015000	0.15790	0.009000	0.06853	2.798000	0.47884	0.619000	0.30197	0.561000	0.74099	GGC		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64685176	G	C	64685176	3	2	18	1	0	0	0	0	1	0	0	0	15446	1348	47	3	20033	3	SYNE2	14	64685176	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10		64685176	42664364	21	983											
RPA1	6117	hgsc.bcm.edu	37	17	1800443	1800444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr17:1800443_1800444insG	ENST00000254719.5	+	17	1935_1936	c.1825_1826insG	c.(1825-1827)agcfs	p.S609fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	609					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)	p.S609fs*>9(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GCTGGTCATGAGCATCAGGAGA	0.51								Nucleotide excision repair (NER)																																								1	Insertion - Frameshift(1)	ovary(1)	17																																								1747194	SO:0001589	frameshift_variant	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1826dupG	17.37:g.1800444_1800444dupG	ENSP00000254719:p.Ser609fs		1747193	A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	CCDS11014.1																																																																																				0.51	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		G	1800444	-	G	1800443	7	5	18	1	0	1	1	0	0	0	0	0	13539	304	11	0	1891	0	RPA1	17	1800443	Frame_Shift_Ins	INS	-	TCGA-04-1364-01A-01W-0490-10		1800443	79394767	22	984											
TP53	7157	hgsc.bcm.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	18	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10	5777095	7577538	73617672	23	985											
TP53	7157	hgsc.bcm.edu	37	17	7578202	7578202	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr17:7578202A>C	ENST00000269305.4	-	6	836	c.647T>G	c.(646-648)gTg>gGg	p.V216G	TP53_ENST00000420246.2_Missense_Mutation_p.V216G|TP53_ENST00000359597.4_Missense_Mutation_p.V216G|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V216G|TP53_ENST00000455263.2_Missense_Mutation_p.V216G|TP53_ENST00000445888.2_Missense_Mutation_p.V216G	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (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.?(10)|p.V216del(8)|p.0?(8)|p.V216E(7)|p.V216G(6)|p.V216A(3)|p.V216fs*31(2)|p.H214fs*5(2)|p.V84G(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*6(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.V84E(1)|p.V123G(1)|p.V123E(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>M(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)	GGGCACCACCACACTATGTCG	0.537		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"	62	Substitution - Missense(20)|Deletion - In frame(11)|Deletion - Frameshift(10)|Unknown(10)|Whole gene deletion(8)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	ovary(9)|lung(8)|haematopoietic_and_lymphoid_tissue(6)|biliary_tract(5)|endometrium(5)|oesophagus(4)|liver(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|central_nervous_system(2)|breast(2)|urinary_tract(2)|soft_tissue(1)|skin(1)|pancreas(1)	17											123	111	115					17																	7578202		2203	4300	6503	7518927	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.647T>G	17.37:g.7578202A>C	ENSP00000269305:p.Val216Gly		7518927	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	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618155	0.87359	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.28	5.28	0.74379	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	0.99862	0.9935	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D	0.96404	0.9299	10	0.87932	D	0	-12.2832	13.4753	0.61306	1.0:0.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216G;ENSP00000352610:V216G;ENSP00000269305:V216G;ENSP00000398846:V216G;ENSP00000391127:V216G;ENSP00000391478:V216G;ENSP00000425104:V84G;ENSP00000423862:V123G	ENSP00000269305:V216G	V	-	2	0	TP53	7518927	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578202	A	C	7578202	3	2	18	1	0	0	0	0	1	0	0	0	16381	159	6	5	647	5	TP53	17	7578202	Missense_Mutation	SNP	A	TCGA-04-1364-01A-01W-0490-10	664	7578202	73617008	24	986											
RGS9	8787	hgsc.bcm.edu	37	17	63221256	63221256	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr17:63221256G>A	ENST00000262406.9	+	18	1611	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	RGS9_ENST00000443584.3_Missense_Mutation_p.R512Q|RGS9_ENST00000449996.3_Missense_Mutation_p.R512Q	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	515					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R515Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGCTTCATCCGGCGACCCAGC	0.662																																																1	Substitution - Missense(1)	ovary(1)	17											91	109	103					17																	63221256		2074	4206	6280	60651718	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1544G>A	17.37:g.63221256G>A	ENSP00000262406:p.Arg515Gln		60651718	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800955	0.50315	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.31510	1.5;1.49	3.91	2.82	0.32997	.	0.303719	0.23598	N	0.046463	T	0.19327	0.0464	L	0.51422	1.61	0.21290	N	0.999733	P;P;P	0.48089	0.787;0.847;0.905	B;B;B	0.35114	0.104;0.096;0.196	T	0.15093	-1.0449	10	0.13853	T	0.58	.	8.6609	0.34093	0.0:0.2355:0.7645:0.0	.	515;515;512	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	Q	515;512	ENSP00000262406:R515Q;ENSP00000396329:R512Q	ENSP00000262406:R515Q	R	+	2	0	RGS9	60651718	0.061000	0.20836	0.946000	0.38457	0.917000	0.54804	2.551000	0.45820	2.128000	0.65567	0.561000	0.74099	CGG		0.662	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		A	63221256	G	A	63221256	3	1	18	1	0	0	0	0	1	0	0	0	13316	1116	39	1	1669	1	RGS9	17	63221256	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10	55643054	63221256	17973954	25	987											
ALPK2	115701	hgsc.bcm.edu	37	18	56246466	56246466	+	Silent	SNP	C	C	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr18:56246466C>T	ENST00000361673.3	-	4	1755	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	514						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T514T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTCAGCTGCCGTCTCCCAAC	0.512											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	18											204	204	204					18																	56246466		2203	4300	6503	54397446	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1542G>A	18.37:g.56246466C>T		1014	54397446	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.512	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56246466	C	T	56246466	2	4	18	1	0	0	0	0	0	0	0	1	545	639	23	1		1	ALPK2	18	56246466	Silent	SNP	C	TCGA-04-1364-01A-01W-0490-10		56246466	21830782	26	988											
ZNF536	9745	hgsc.bcm.edu	37	19	31025800	31025800	+	Silent	SNP	G	G	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr19:31025800G>A	ENST00000355537.3	+	3	2364	c.2217G>A	c.(2215-2217)gcG>gcA	p.A739A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	739					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.A739A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCAACCAGCGCTGCTTCGCG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	19											115	116	116					19																	31025800		2203	4300	6503	35717640	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2217G>A	19.37:g.31025800G>A			35717640	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.567	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		A	31025800	G	A	31025800	2	1	18	1	0	0	0	0	0	0	0	1	17974	1074	38	1		1	ZNF536	19	31025800	Silent	SNP	G	TCGA-04-1364-01A-01W-0490-10		31025800	28103183	27	989											
C19orf47	126526	hgsc.bcm.edu	37	19	40842028	40842028	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr19:40842028C>T	ENST00000582783.1	-	4	334	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	Y_RNA_ENST00000384551.1_RNA|C19orf47_ENST00000392035.2_Missense_Mutation_p.V41M	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	108						nucleus (GO:0005634)		p.V41M(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TGACGGTGCACCACTTTGGCA	0.572																																																1	Substitution - Missense(1)	ovary(1)	19											124	94	104					19																	40842028		2203	4300	6503	45533868	SO:0001583	missense	126526			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.322G>A	19.37:g.40842028C>T	ENSP00000463159:p.Val108Met		45533868	Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479009	0.44044	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	.	.	.	5.6	5.6	0.85130	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.77029	-0.2739	9	0.33141	T	0.24	-4.7315	12.4853	0.55868	0.0:0.9191:0.0:0.0809	.	108	Q8N9M1	CS047_HUMAN	M	108;41	.	ENSP00000350556:V108M	V	-	1	0	C19orf47	45533868	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.501000	0.66950	2.625000	0.88918	0.561000	0.74099	GTG		0.572	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		T	40842028	C	T	40842028	3	4	18	1	0	0	0	0	1	0	0	0	1930	507	18	2	970	2	C19orf47	19	40842028	Missense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10	9816228	40842028	18286955	28	990											
ZNF235	9310	hgsc.bcm.edu	37	19	44792828	44792828	+	Missense_Mutation	SNP	G	G	A	rs536226217		TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr19:44792828G>A	ENST00000291182.4	-	5	862	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	254					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.R254C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGAATACTACGCTGGGTAAGA	0.398													G|||	1	0.000199681	8e-04	0	5008	,	,		20853	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19											96	96	96					19																	44792828		2203	4300	6503	49484668	SO:0001583	missense	9310			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.760C>T	19.37:g.44792828G>A	ENSP00000291182:p.Arg254Cys		49484668	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	g	12.13	1.845352	0.32606	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.15718	2.4	4.25	-2.13	0.07144	.	2.890490	0.01220	N	0.008066	T	0.17831	0.0428	L	0.43757	1.38	0.09310	N	1	D;D	0.54964	0.969;0.958	B;B	0.43123	0.409;0.296	T	0.38779	-0.9645	10	0.66056	D	0.02	.	7.9188	0.29833	0.2913:0.1096:0.5991:0.0	.	250;254	Q14590-2;Q14590	.;ZN235_HUMAN	C	254;254;176	ENSP00000291182:R254C	ENSP00000291182:R254C	R	-	1	0	ZNF235	49484668	0.019000	0.18553	0.000000	0.03702	0.547000	0.35210	1.381000	0.34362	-0.642000	0.05480	-1.634000	0.00779	CGT		0.398	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			A	44792828	G	A	44792828	3	1	18	1	0	0	0	0	1	0	0	0	17788	1087	38	1	1460	1	ZNF235	19	44792828	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10	3950800	44792828	14336155	29	991											
C19orf18	147685	hgsc.bcm.edu	37	19	58470047	58470047	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr19:58470047G>C	ENST00000314391.3	-	6	672	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	191						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L191V(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCTTCCTTCAGTTTCTTCTTA	0.328																																																1	Substitution - Missense(1)	ovary(1)	19											60	56	57					19																	58470047		2202	4300	6502	63161859	SO:0001583	missense	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.571C>G	19.37:g.58470047G>C	ENSP00000321519:p.Leu191Val		63161859		Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530170	0.27387	.	.	ENSG00000177025	ENST00000314391	T	0.58940	0.3	3.14	-1.64	0.08318	.	.	.	.	.	T	0.49864	0.1582	L	0.27053	0.805	0.09310	N	1	D	0.60160	0.987	P	0.55999	0.789	T	0.41215	-0.9521	9	0.62326	D	0.03	-33.0796	3.3259	0.07067	0.3813:0.0:0.4056:0.2131	.	191	Q8NEA5	CS018_HUMAN	V	191	ENSP00000321519:L191V	ENSP00000321519:L191V	L	-	1	2	C19orf18	63161859	0.000000	0.05858	0.100000	0.21137	0.027000	0.11550	-0.963000	0.03837	-0.460000	0.07003	-0.350000	0.07774	CTG		0.328	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		C	58470047	G	C	58470047	3	2	18	1	0	0	0	0	1	0	0	0	1910	1020	36	3	80	3	C19orf18	19	58470047	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10	13677219	58470047	658936	30	992											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47605044	47605044	+	Missense_Mutation	SNP	C	C	G	rs532986318		TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr20:47605044C>G	ENST00000371917.4	+	18	2378	c.2378C>G	c.(2377-2379)aCg>aGg	p.T793R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	793					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.T793R(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AATAAAATGACGAAAGAGCAG	0.299																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											1	Substitution - Missense(1)	ovary(1)	20											41	45	43					20																	47605044		2189	4291	6480	47038451	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2378C>G	20.37:g.47605044C>G	ENSP00000360985:p.Thr793Arg		47038451	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787901	0.90367	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.81163	-1.46	5.74	5.74	0.90152	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.92593	0.7647	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93413	0.6770	10	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	793	Q9Y6D5	BIG2_HUMAN	R	793	ENSP00000360985:T793R	ENSP00000360985:T793R	T	+	2	0	ARFGEF2	47038451	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.873000	0.98535	0.563000	0.77884	ACG		0.299	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		G	47605044	C	G	47605044	3	3	18	1	0	0	0	0	1	0	0	0	853	536	19	3	2448	3	ARFGEF2	20	47605044	Missense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10		47605044	15420476	31	993											
SLC9A8	23315	hgsc.bcm.edu	37	20	48431625	48431625	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr20:48431625C>T	ENST00000361573.2	+	2	149	c.107C>T	c.(106-108)cCg>cTg	p.P36L	SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000417961.1_Missense_Mutation_p.P36L			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	36					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.P36L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTGGTGCTCCCGACCCCTGGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	20											106	92	97					20																	48431625		2203	4300	6503	47865032	SO:0001583	missense	23315			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.107C>T	20.37:g.48431625C>T	ENSP00000354966:p.Pro36Leu		47865032	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261052	0.95368	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.64991	-0.13;-0.12	5.53	5.53	0.82687	.	0.229313	0.45126	D	0.000394	T	0.69351	0.3101	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.73509	-0.3960	10	0.66056	D	0.02	.	19.1301	0.93402	0.0:1.0:0.0:0.0	.	36;36	Q9Y2E8-2;Q9Y2E8	.;SL9A8_HUMAN	L	36	ENSP00000416418:P36L;ENSP00000354966:P36L	ENSP00000354966:P36L	P	+	2	0	SLC9A8	47865032	1.000000	0.71417	0.999000	0.59377	0.795000	0.44927	5.864000	0.69575	2.602000	0.87976	0.644000	0.83932	CCG		0.572	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		T	48431625	C	T	48431625	3	4	18	1	0	0	0	0	1	0	0	0	14723	652	23	1	113	1	SLC9A8	20	48431625	Missense_Mutation	SNP	C	TCGA-04-1364-01A-01W-0490-10	826581	48431625	14593895	32	994											
KRTAP19-4	337971	hgsc.bcm.edu	37	21	31869398	31869398	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr21:31869398G>T	ENST00000334058.2	-	1	53	c.31C>A	c.(31-33)Ctg>Atg	p.L11M		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	11						intermediate filament (GO:0005882)		p.L11M(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCATAGCCCAGGCCTCTGTAA	0.547																																																1	Substitution - Missense(1)	ovary(1)	21											111	116	114					21																	31869398		2203	4300	6503	30791269	SO:0001583	missense	337971			AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"Keratin associated proteins"	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.31C>A	21.37:g.31869398G>T	ENSP00000335567:p.Leu11Met		30791269	Q17RT4|Q17RT6	Missense_Mutation	SNP	ENST00000334058.2	37	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	G	2.425	-0.332307	0.05314	.	.	ENSG00000186967	ENST00000334058	T	0.11930	2.73	3.91	3.03	0.35002	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.19300	N	0.999971	D	0.89917	1.0	D	0.72982	0.979	T	0.03717	-1.1010	8	0.87932	D	0	.	7.6851	0.28536	0.1167:0.0:0.8833:0.0	.	11	Q3LI73	KR194_HUMAN	M	11	ENSP00000335567:L11M	ENSP00000335567:L11M	L	-	1	2	KRTAP19-4	30791269	0.961000	0.32948	0.987000	0.45799	0.014000	0.08584	1.595000	0.36708	1.224000	0.43551	0.585000	0.79938	CTG		0.547	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			T	31869398	G	T	31869398	3	4	18	1	0	0	0	0	1	0	0	0	8531	991	35	3	226	3	KRTAP19-4	21	31869398	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10		31869398	16260497	33	995											
SEC14L3	266629	hgsc.bcm.edu	37	22	30860822	30860822	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chr22:30860822T>A	ENST00000215812.4	-	8	739	c.649A>T	c.(649-651)Att>Ttt	p.I217F	SEC14L3_ENST00000540910.1_Missense_Mutation_p.I140F|SEC14L3_ENST00000415957.2_Missense_Mutation_p.I158F|SEC14L3_ENST00000403066.1_Missense_Mutation_p.I158F|SEC14L3_ENST00000401751.1_Missense_Mutation_p.I158F|SEC14L3_ENST00000402286.1_Missense_Mutation_p.I140F|SEC14L3_ENST00000539629.1_Missense_Mutation_p.I158F	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	217	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.I217F(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AACACAATAATTTTCCTGCGA	0.463																																					Esophageal Squamous(108;290 1516 3584 23771 37333)											1	Substitution - Missense(1)	ovary(1)	22											180	154	163					22																	30860822		2203	4300	6503	29190822	SO:0001583	missense	266629			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.649A>T	22.37:g.30860822T>A	ENSP00000215812:p.Ile217Phe		29190822	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	CCDS13877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.28|17.28	3.349499|3.349499	0.61183|0.61183	.|.	.|.	ENSG00000100012|ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910|ENST00000435069	T;T;T;T;T;T;T|T	0.66638|0.52983	-0.22;-0.22;-0.22;1.34;-0.22;-0.22;1.34|0.64	5.5|5.5	5.5|5.5	0.81552|0.81552	Cellular retinaldehyde-binding/triple function, C-terminal (5);|.	0.106946|.	0.64402|.	D|.	0.000005|.	T|T	0.59224|0.59224	0.2178|0.2178	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	P;P|.	0.45011|.	0.848;0.727|.	P;P|.	0.49140|.	0.471;0.601|.	T|T	0.63341|0.63341	-0.6659|-0.6659	10|7	0.87932|0.87932	D|D	0|0	-16.5085|-16.5085	10.7724|10.7724	0.46330|0.46330	0.0:0.076:0.0:0.924|0.0:0.076:0.0:0.924	.|.	140;217|.	E9PE57;Q9UDX4|.	.;S14L3_HUMAN|.	F|N	158;158;217;140;158;158;140|182	ENSP00000385941:I158F;ENSP00000401864:I158F;ENSP00000215812:I217F;ENSP00000385004:I140F;ENSP00000383896:I158F;ENSP00000444691:I158F;ENSP00000439752:I140F|ENSP00000402986:K182N	ENSP00000215812:I217F|ENSP00000402986:K182N	I|K	-|-	1|3	0|2	SEC14L3|SEC14L3	29190822|29190822	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.475000|0.475000	0.33008|0.33008	4.737000|4.737000	0.62066|0.62066	2.096000|2.096000	0.63516|0.63516	0.533000|0.533000	0.62120|0.62120	ATT|AAA		0.463	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		A	30860822	T	A	30860822	3	1	18	1	0	0	0	0	1	0	0	0	13986	1493	52	5	573	5	SEC14L3	22	30860822	Missense_Mutation	SNP	T	TCGA-04-1364-01A-01W-0490-10		30860822	20443744	34	996											
L1CAM	3897	hgsc.bcm.edu	37	X	153130951	153130951	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1364-01A-01W-0490-10	TCGA-04-1364-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	81daabc8-b592-4546-9fd1-717777caeb06	2969fd79-2c88-4b57-aeb3-cc65bb2799a6	g.chrX:153130951G>A	ENST00000370060.1	-	21	2741	c.2552C>T	c.(2551-2553)aCg>aTg	p.T851M	L1CAM_ENST00000361699.4_Missense_Mutation_p.T851M|L1CAM_ENST00000538883.1_Missense_Mutation_p.T853M|L1CAM_ENST00000543994.1_Missense_Mutation_p.T853M|L1CAM_ENST00000361981.3_Missense_Mutation_p.T846M|L1CAM_ENST00000370055.1_Missense_Mutation_p.T846M|L1CAM_ENST00000370057.3_Missense_Mutation_p.T851M	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	851	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.T851M(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)					CCTCCAGTACGTCACCTGCAC	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											162	118	133					X																	153130951		2203	4300	6503	152784145	SO:0001583	missense	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.2552C>T	X.37:g.153130951G>A	ENSP00000359077:p.Thr851Met		152784145	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022001	0.54576	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.243724	0.29059	N	0.013275	T	0.70228	0.3200	L	0.60845	1.875	0.40787	D	0.983222	D;D;D	0.76494	0.999;0.958;0.999	D;P;D	0.69479	0.94;0.682;0.964	T	0.71024	-0.4712	10	0.42905	T	0.14	.	13.403	0.60893	0.0:0.0:1.0:0.0	.	846;851;851	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	M	851;853;851;853;846;846;851	ENSP00000359077:T851M;ENSP00000438430:T853M;ENSP00000359074:T851M;ENSP00000439645:T853M;ENSP00000354712:T846M;ENSP00000359072:T846M;ENSP00000355380:T851M	ENSP00000355380:T851M	T	-	2	0	L1CAM	152784145	0.906000	0.30813	0.793000	0.32043	0.669000	0.39330	1.646000	0.37249	2.228000	0.72767	0.529000	0.55759	ACG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153130951	G	A	153130951	3	1	18	1	0	0	0	0	1	0	0	0	8588	1145	40	1	1257	1	L1CAM	23	153130951	Missense_Mutation	SNP	G	TCGA-04-1364-01A-01W-0490-10		153130951	2139609	35	997											
MACF1	23499	hgsc.bcm.edu	37	1	39823311	39823311	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr1:39823311G>A	ENST00000372915.3	+	44	11791	c.11704G>A	c.(11704-11706)Gag>Aag	p.E3902K	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.E1835K|MACF1_ENST00000539005.1_Missense_Mutation_p.E1835K|MACF1_ENST00000567887.1_Missense_Mutation_p.E3934K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2337K|MACF1_ENST00000564288.1_Missense_Mutation_p.E3897K|MACF1_ENST00000545844.1_Missense_Mutation_p.E1835K|MACF1_ENST00000317713.7_Missense_Mutation_p.E1835K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3902					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E1835K(1)|p.E2337K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAACGATCCGAGAAAGAGCT	0.507																																																2	Substitution - Missense(2)	ovary(2)	1											67	70	69					1																	39823311		2203	4300	6503	39595898	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11704G>A	1.37:g.39823311G>A	ENSP00000362006:p.Glu3902Lys		39595898	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.854465|5.854465	0.97030|0.97030	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85;0.85|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.78502|0.78502	0.4293|0.4293	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.994;0.977;0.998;0.977|.	T|T	0.75780|0.75780	-0.3197|-0.3197	10|5	0.66056|.	D|.	0.02|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3902;1835;1835;1800|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	K|Q	1835;3902;1835;1835;1835;1984;2337|968	ENSP00000439537:E1835K;ENSP00000362006:E3902K;ENSP00000354573:E1835K;ENSP00000313438:E1835K;ENSP00000444364:E1835K;ENSP00000437059:E1984K;ENSP00000289893:E2337K|.	ENSP00000289893:E2337K|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39595898|39595898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.306000|6.306000	0.72810|0.72810	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39823311	G	A	39823311	3	1	19	1	0	0	0	0	1	0	0	0	9144	1059	37	1	11812	1	MACF1	1	39823311	Missense_Mutation	SNP	G	TCGA-04-1365-01A-01W-0490-10		39823311	209427310	1	998											
SNX7	51375	hgsc.bcm.edu	37	1	99161101	99161101	+	Missense_Mutation	SNP	C	C	T	rs376791566		TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr1:99161101C>T	ENST00000306121.3	+	5	676	c.667C>T	c.(667-669)Cct>Tct	p.P223S	SNX7_ENST00000370189.5_Missense_Mutation_p.P159S|SNX7_ENST00000529992.1_Missense_Mutation_p.P168S	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	159					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.P159S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GAAGCAAGGTCCTGGCTTGCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											59	67	64					1																	99161101		2203	4300	6503	98933689	SO:0001583	missense	51375			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.667C>T	1.37:g.99161101C>T	ENSP00000304429:p.Pro223Ser		98933689	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564147	0.27915	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.33654	1.49;2.29;1.4	5.66	5.66	0.87406	.	0.288387	0.39210	N	0.001431	T	0.42494	0.1205	L	0.48362	1.52	0.58432	D	0.999994	D;B;B	0.76494	0.999;0.113;0.113	D;B;B	0.68483	0.958;0.054;0.054	T	0.03423	-1.1038	10	0.14252	T	0.57	-21.9457	20.1041	0.97884	0.0:1.0:0.0:0.0	.	168;223;159	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	S	159;168;223	ENSP00000359208:P159S;ENSP00000434731:P168S;ENSP00000304429:P223S	ENSP00000304429:P223S	P	+	1	0	SNX7	98933689	0.998000	0.40836	0.993000	0.49108	0.619000	0.37552	3.910000	0.56371	2.826000	0.97356	0.655000	0.94253	CCT		0.418	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			T	99161101	C	T	99161101	3	4	19	1	0	0	0	0	1	0	0	0	14910	855	30	2	685	2	SNX7	1	99161101	Missense_Mutation	SNP	C	TCGA-04-1365-01A-01W-0490-10	59337790	99161101	150089520	2	999											
EPS8L3	79574	hgsc.bcm.edu	37	1	110299773	110299773	+	Nonsense_Mutation	SNP	G	G	T	rs369693504		TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr1:110299773G>T	ENST00000361965.4	-	12	1090	c.984C>A	c.(982-984)tgC>tgA	p.C328*	EPS8L3_ENST00000361852.4_Nonsense_Mutation_p.C328*|EPS8L3_ENST00000369805.3_Nonsense_Mutation_p.C329*|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'Flank	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	328						cytoplasm (GO:0005737)		p.C329*(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CAGCCTCAGGGCACCTGGCCA	0.597																																																1	Substitution - Nonsense(1)	ovary(1)	1											54	47	49					1																	110299773		2203	4300	6503	110101296	SO:0001587	stop_gained	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.984C>A	1.37:g.110299773G>T	ENSP00000355255:p.Cys328*		110101296	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Nonsense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	38	6.864950	0.97897	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	.	.	.	5.44	1.45	0.22620	.	0.092939	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0893	7.166	0.25691	0.4319:0.0:0.5681:0.0	.	.	.	.	X	328;329;328	.	ENSP00000354551:C328X	C	-	3	2	EPS8L3	110101296	1.000000	0.71417	0.582000	0.28627	0.408000	0.30992	0.390000	0.20768	0.266000	0.21894	0.585000	0.79938	TGC		0.597	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		T	110299773	G	T	110299773	4	4	19	1	0	0	0	0	0	1	0	0	5197	1195	42	3	829	3	EPS8L3	1	110299773	Nonsense_Mutation	SNP	G	TCGA-04-1365-01A-01W-0490-10	11138672	110299773	138950848	3	1000											
AFF3	3899	hgsc.bcm.edu	37	2	100623096	100623096	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr2:100623096C>T	ENST00000409236.2	-	5	983	c.871G>A	c.(871-873)Gag>Aag	p.E291K	AFF3_ENST00000356421.2_Missense_Mutation_p.E316K|AFF3_ENST00000317233.4_Missense_Mutation_p.E291K|AFF3_ENST00000409579.1_Missense_Mutation_p.E316K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	291					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E316K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGACTCACCTCCCCCTGCTTG	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											55	59	58					2																	100623096		2203	4300	6503	99989528	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.871G>A	2.37:g.100623096C>T	ENSP00000387207:p.Glu291Lys		99989528	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538709	0.85917	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.46	5.46	0.80206	.	0.321611	0.29376	N	0.012325	T	0.65386	0.2686	N	0.19112	0.55	0.53688	D	0.99997	D;D;P;D;D	0.89917	1.0;1.0;0.925;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.997;0.572;0.998;0.997	T	0.57335	-0.7829	10	0.07175	T	0.84	.	19.3032	0.94151	0.0:1.0:0.0:0.0	.	445;445;291;291;316	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	K	291;316;316;291;291;445;316	ENSP00000317421:E291K;ENSP00000348793:E316K;ENSP00000386834:E316K;ENSP00000387207:E291K	ENSP00000317421:E291K	E	-	1	0	AFF3	99989528	1.000000	0.71417	0.955000	0.39395	0.739000	0.42172	5.849000	0.69465	2.563000	0.86464	0.655000	0.94253	GAG		0.512	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		T	100623096	C	T	100623096	3	4	19	1	0	0	0	0	1	0	0	0	358	864	30	2	2885	2	AFF3	2	100623096	Missense_Mutation	SNP	C	TCGA-04-1365-01A-01W-0490-10		100623096	142576277	4	1001											
TTN	7273	hgsc.bcm.edu	37	2	179645975	179645975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr2:179645975G>T	ENST00000591111.1	-	21	3620	c.3396C>A	c.(3394-3396)taC>taA	p.Y1132*	TTN_ENST00000359218.5_Nonsense_Mutation_p.Y1086*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y1086*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Y1132*|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y1132*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y1132*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y1086*			Q8WZ42	TITIN_HUMAN	titin	33349	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y1132*(2)|p.Y1086*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTTGTTGTAACTCACTT	0.343																																																3	Substitution - Nonsense(3)	ovary(3)	2											209	183	192					2																	179645975		2203	4300	6503	179354220	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3396C>A	2.37:g.179645975G>T	ENSP00000465570:p.Tyr1132*		179354220	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	41	9.147639	0.99080	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.91	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0087	0.41972	0.4769:0.0:0.5231:0.0	.	.	.	.	X	1132;1086;1086;1086;1086;1132	.	ENSP00000340554:Y1086X	Y	-	3	2	TTN	179354220	1.000000	0.71417	0.998000	0.56505	0.636000	0.38137	1.280000	0.33202	0.106000	0.17784	-0.142000	0.14014	TAC		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179645975	G	T	179645975	4	4	19	1	0	0	0	0	0	1	0	0	16735	1372	48	3	107960	3	TTN	2	179645975	Nonsense_Mutation	SNP	G	TCGA-04-1365-01A-01W-0490-10	79022879	179645975	63553398	5	1002											
TRIP12	9320	hgsc.bcm.edu	37	2	230668915	230668915	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr2:230668915A>T	ENST00000283943.5	-	18	2632	c.2454T>A	c.(2452-2454)gaT>gaA	p.D818E	TRIP12_ENST00000389044.4_Missense_Mutation_p.D866E|TRIP12_ENST00000389045.3_Missense_Mutation_p.D548E|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	818	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.D818E(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGCTCGAGCATCATCCTTCT	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											77	86	83					2																	230668915		2203	4300	6503	230377159	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2454T>A	2.37:g.230668915A>T	ENSP00000283943:p.Asp818Glu		230377159	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214362	0.79352	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.47177	0.85;1.26;0.85	5.82	2.28	0.28536	WWE domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	L	0.37697	1.125	0.80722	D	1	D;D;D	0.58970	0.984;0.984;0.984	D;D;D	0.68192	0.956;0.956;0.956	T	0.39542	-0.9609	10	0.13108	T	0.6	.	8.1517	0.31145	0.7108:0.0:0.2892:0.0	.	548;866;818	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	E	818;548;866	ENSP00000283943:D818E;ENSP00000373697:D548E;ENSP00000373696:D866E	ENSP00000283943:D818E	D	-	3	2	TRIP12	230377159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.977000	0.40589	0.486000	0.27676	0.397000	0.26171	GAT		0.348	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		T	230668915	A	T	230668915	3	4	19	1	0	0	0	0	1	0	0	0	16556	214	8	5	3620	5	TRIP12	2	230668915	Missense_Mutation	SNP	A	TCGA-04-1365-01A-01W-0490-10	51022940	230668915	12530458	6	1003											
COQ2	27235	hgsc.bcm.edu	37	4	84188772	84188772	+	Silent	SNP	G	G	A			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr4:84188772G>A	ENST00000311469.4	-	6	1067	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	COQ2_ENST00000439031.2_Silent_p.A319A|COQ2_ENST00000311461.7_Silent_p.A306A	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	306					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)	p.A356A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				CAGCACCCAGGGCAGCGTAGT	0.468																																																1	Substitution - coding silent(1)	ovary(1)	4											34	36	35					4																	84188772		1994	4160	6154	84407796	SO:0001819	synonymous_variant	27235				CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"4-hydroxybenzoate polyprenyltransferase"	609825	"coenzyme Q2 homolog, prenyltransferase (yeast)"			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.1068C>T	4.37:g.84188772G>A			84407796	O95331|Q1JQ78|Q684R2	Silent	SNP	ENST00000311469.4	37	CCDS47090.2																																																																																				0.468	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697		A	84188772	G	A	84188772	2	1	19	1	0	0	0	0	0	0	0	1	3745	1219	43	2		2	COQ2	4	84188772	Silent	SNP	G	TCGA-04-1365-01A-01W-0490-10		84188772	106965504	7	1004											
HCN1	348980	hgsc.bcm.edu	37	5	45645336	45645336	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr5:45645336C>A	ENST00000303230.4	-	2	857	c.800G>T	c.(799-801)cGt>cTt	p.R267L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	267					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R267L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGTAATAAACGCAAGAGACT	0.313																																																1	Substitution - Missense(1)	ovary(1)	5											46	45	45					5																	45645336		2203	4300	6503	45681093	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.800G>T	5.37:g.45645336C>A	ENSP00000307342:p.Arg267Leu		45681093		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063210	0.93898	.	.	ENSG00000164588	ENST00000303230	D	0.98717	-5.09	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000012	D	0.99423	0.9796	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98604	1.0660	10	0.87932	D	0	.	19.403	0.94639	0.0:1.0:0.0:0.0	.	267	O60741	HCN1_HUMAN	L	267	ENSP00000307342:R267L	ENSP00000307342:R267L	R	-	2	0	HCN1	45681093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.589000	0.87451	0.650000	0.86243	CGT		0.313	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		A	45645336	C	A	45645336	3	1	19	1	0	0	0	0	1	0	0	0	6996	536	19	3	1900	3	HCN1	5	45645336	Missense_Mutation	SNP	C	TCGA-04-1365-01A-01W-0490-10		45645336	135269924	8	1005											
BTN2A1	11120	hgsc.bcm.edu	37	6	26463506	26463507	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr6:26463506_26463507delCC	ENST00000312541.5	+	4	713_714	c.465_466delCC	c.(463-468)ggccatfs	p.H156fs	BTN2A1_ENST00000469185.1_Frame_Shift_Del_p.H156fs|BTN2A1_ENST00000429381.1_Frame_Shift_Del_p.H156fs|BTN2A1_ENST00000541522.1_Frame_Shift_Del_p.H95fs	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	156					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.H156fs*1(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CAATGAGGGGCCATGAAGACGG	0.564																																																1	Deletion - Frameshift(1)	ovary(1)	6																																								26571486	SO:0001589	frameshift_variant	11120			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.465_466delCC	6.37:g.26463506_26463507delCC	ENSP00000312158:p.His156fs		26571485	B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Frame_Shift_Del	DEL	ENST00000312541.5	37	CCDS4613.1																																																																																				0.564	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		-	26463507	CC	-	26463506	7	5	19	1	0	1	0	1	0	0	0	0	1560	726	26	0	475	0	BTN2A1	6	26463506	Frame_Shift_Del	DEL	CC	TCGA-04-1365-01A-01W-0490-10		26463506	144651561	9	1006											
BAI3	577	hgsc.bcm.edu	37	6	69703788	69703788	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr6:69703788G>T	ENST00000370598.1	+	11	2684	c.1863G>T	c.(1861-1863)gaG>gaT	p.E621D		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	621					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E621D(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGTCTGTGGAGATCCTGAGAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											128	130	129					6																	69703788		2203	4300	6503	69760509	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1863G>T	6.37:g.69703788G>T	ENSP00000359630:p.Glu621Asp		69760509	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	9.606	1.129924	0.21041	.	.	ENSG00000135298	ENST00000370598	T	0.10763	2.84	6.05	3.7	0.42460	Domain of unknown function DUF3497 (1);	0.259729	0.36815	N	0.002394	T	0.01730	0.0055	N	0.20530	0.585	0.80722	D	1	P	0.36199	0.543	B	0.34991	0.193	T	0.22591	-1.0212	10	0.02654	T	1	.	9.8341	0.40958	0.8601:0.0:0.1399:0.0	.	621	O60242	BAI3_HUMAN	D	621	ENSP00000359630:E621D	ENSP00000359630:E621D	E	+	3	2	BAI3	69760509	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.202000	0.65169	0.545000	0.28902	-0.312000	0.09012	GAG		0.458	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			T	69703788	G	T	69703788	3	4	19	1	0	0	0	0	1	0	0	0	1300	933	33	3	1897	3	BAI3	6	69703788	Missense_Mutation	SNP	G	TCGA-04-1365-01A-01W-0490-10	43240282	69703788	101411279	10	1007											
GRM1	2911	hgsc.bcm.edu	37	6	146351338	146351338	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr6:146351338G>T	ENST00000282753.1	+	1	920	c.685G>T	c.(685-687)Gca>Tca	p.A229S	GRM1_ENST00000492807.2_Missense_Mutation_p.A229S|GRM1_ENST00000507907.1_Missense_Mutation_p.A229S|GRM1_ENST00000361719.2_Missense_Mutation_p.A229S|GRM1_ENST00000355289.4_Missense_Mutation_p.A229S|GRM1_ENST00000392299.2_Missense_Mutation_p.A229S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	229					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A229S(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTATGTCTCTGCAGTCCACAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	6											57	59	58					6																	146351338		2203	4300	6503	146393031	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.685G>T	6.37:g.146351338G>T	ENSP00000282753:p.Ala229Ser		146393031	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542154	0.85917	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	M	0.79926	2.475	0.80722	D	1	B;D;B;B	0.53151	0.23;0.958;0.272;0.23	B;P;B;B	0.52066	0.168;0.689;0.259;0.168	D	0.88349	0.2980	10	0.66056	D	0.02	.	19.6316	0.95708	0.0:0.0:1.0:0.0	.	229;229;224;229	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	S	229	ENSP00000354896:A229S;ENSP00000376119:A229S;ENSP00000424095:A229S;ENSP00000282753:A229S;ENSP00000347437:A229S;ENSP00000425599:A229S	ENSP00000282753:A229S	A	+	1	0	GRM1	146393031	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.062000	0.89475	2.736000	0.93811	0.561000	0.74099	GCA		0.453	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146351338	G	T	146351338	3	4	19	1	0	0	0	0	1	0	0	0	6796	1319	46	3	687	3	GRM1	6	146351338	Missense_Mutation	SNP	G	TCGA-04-1365-01A-01W-0490-10	76647550	146351338	24763729	11	1008											
SLC12A9	56996	hgsc.bcm.edu	37	7	100454599	100454601	+	In_Frame_Del	DEL	CGG	CGG	-	rs141354939		TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	CGG	CGG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr7:100454599_100454601delCGG	ENST00000354161.3	+	5	683_685	c.558_560delCGG	c.(556-561)gccggc>gcc	p.G187del	SLC12A9_ENST00000540482.1_In_Frame_Del_p.G187del|SLC12A9_ENST00000415287.1_In_Frame_Del_p.G98del|SLC12A9_ENST00000275729.3_In_Frame_Del_p.G98del|SLC12A9_ENST00000428758.1_In_Frame_Del_p.G187del	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	187					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.G187delG(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTGGGAGCCGGCCTCTATGCC	0.67																																																1	Deletion - In frame(1)	ovary(1)	7																																								100292537	SO:0001651	inframe_deletion	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.558_560delCGG	7.37:g.100454599_100454601delCGG	ENSP00000275730:p.Gly187del		100292535	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	In_Frame_Del	DEL	ENST00000354161.3	37	CCDS5707.1																																																																																				0.67	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		-	100454601	CGG	-	100454599	7	5	19	1	0	1	0	1	0	0	0	0	14393	639	23	0	572	0	SLC12A9	7	100454599	In_Frame_Del	DEL	CGG	TCGA-04-1365-01A-01W-0490-10		100454599	58684064	12	1009											
CSMD1	64478	hgsc.bcm.edu	37	8	3263551	3263551	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr8:3263551T>A	ENST00000520002.1	-	16	2822	c.2267A>T	c.(2266-2268)gAa>gTa	p.E756V	CSMD1_ENST00000539096.1_Missense_Mutation_p.E755V|CSMD1_ENST00000602723.1_Missense_Mutation_p.E756V|CSMD1_ENST00000537824.1_Missense_Mutation_p.E755V|CSMD1_ENST00000400186.3_Missense_Mutation_p.E756V|CSMD1_ENST00000542608.1_Missense_Mutation_p.E755V|CSMD1_ENST00000602557.1_Missense_Mutation_p.E756V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	756	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.E484V(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)		GACTGCACCTTCACAGCGGGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	8											46	48	47					8																	3263551		2001	4173	6174	3250958	SO:0001583	missense	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.2267A>T	8.37:g.3263551T>A	ENSP00000430733:p.Glu756Val		3250958	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.457771|4.457771	0.84317|0.84317	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86;1.86|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Complement control module (2);Sushi/SCR/CCP (1);|.	0.064521|.	0.64402|.	D|.	0.000012|.	T|.	0.62829|.	0.2460|.	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.959;1.0|.	D;D|.	0.87578|.	0.909;0.998|.	T|.	0.60490|.	-0.7253|.	10|.	0.36615|.	T|.	0.2|.	.|.	15.3548|15.3548	0.74418|0.74418	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	756;756|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	V|C	756;756;618;755;755;755|235	ENSP00000383047:E756V;ENSP00000430733:E756V;ENSP00000441462:E755V;ENSP00000446243:E755V;ENSP00000441675:E755V|.	ENSP00000320445:E618V|.	E|X	-|-	2|3	0|0	CSMD1|CSMD1	3250958|3250958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.825000|0.825000	0.46686|0.46686	7.492000|7.492000	0.81482|0.81482	2.011000|2.011000	0.59026|0.59026	0.482000|0.482000	0.46254|0.46254	GAA|TGA		0.542	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3263551	T	A	3263551	3	1	19	1	0	0	0	0	1	0	0	0	3944	1783	62	5	8654	5	CSMD1	8	3263551	Missense_Mutation	SNP	T	TCGA-04-1365-01A-01W-0490-10		3263551	143100471	13	1010											
ELAVL2	1993	hgsc.bcm.edu	37	9	23692568	23692568	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr9:23692568G>A	ENST00000397312.2	-	7	1341	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M	ELAVL2_ENST00000544538.1_Missense_Mutation_p.T356M|ELAVL2_ENST00000380110.4_Missense_Mutation_p.T386M|ELAVL2_ENST00000223951.6_Missense_Mutation_p.T343M|ELAVL2_ENST00000380117.1_Missense_Mutation_p.T356M	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	356					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T356M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GGCTTTGTGCGTTTTGTTTGT	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											52	50	51					9																	23692568		2203	4300	6503	23682568	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.1067C>T	9.37:g.23692568G>A	ENSP00000380479:p.Thr356Met		23682568	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881458	0.51801	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);	0.042350	0.85682	N	0.000000	T	0.16385	0.0394	L	0.52905	1.665	0.80722	D	1	B;P	0.44627	0.234;0.839	B;P	0.49597	0.302;0.616	T	0.00013	-1.2416	10	0.62326	D	0.03	.	20.369	0.98888	0.0:0.0:1.0:0.0	.	356;343	Q12926;Q12926-2	ELAV2_HUMAN;.	M	343;356;356;343;356;384	ENSP00000223951:T343M;ENSP00000380479:T356M;ENSP00000440998:T356M;ENSP00000369460:T356M	ENSP00000223951:T343M	T	-	2	0	ELAVL2	23682568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.819000	0.97034	0.650000	0.86243	ACG		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		A	23692568	G	A	23692568	3	1	19	1	0	0	0	0	1	0	0	0	5050	1145	40	1	16	1	ELAVL2	9	23692568	Missense_Mutation	SNP	G	TCGA-04-1365-01A-01W-0490-10		23692568	117520863	14	1011											
SLC5A12	159963	hgsc.bcm.edu	37	11	26705372	26705372	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr11:26705372C>T	ENST00000396005.3	-	11	1549	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	414					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.G414S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCACACATGCCGTGAATGCTG	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											51	51	51					11																	26705372		1971	4171	6142	26661948	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1240G>A	11.37:g.26705372C>T	ENSP00000379326:p.Gly414Ser		26661948	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210357	0.79240	.	.	ENSG00000148942	ENST00000396005	D	0.87029	-2.2	5.59	5.59	0.84812	.	0.491568	0.17320	U	0.178557	D	0.92779	0.7704	M	0.65677	2.01	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.92179	0.5750	10	0.51188	T	0.08	.	18.353	0.90344	0.0:1.0:0.0:0.0	.	414	Q1EHB4	SC5AC_HUMAN	S	414	ENSP00000379326:G414S	ENSP00000379326:G414S	G	-	1	0	SLC5A12	26661948	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	6.114000	0.71560	2.620000	0.88729	0.655000	0.94253	GGC		0.522	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		T	26705372	C	T	26705372	3	4	19	1	0	0	0	0	1	0	0	0	14667	652	23	1	636	1	SLC5A12	11	26705372	Missense_Mutation	SNP	C	TCGA-04-1365-01A-01W-0490-10		26705372	108301144	15	1012											
P2RY2	5029	hgsc.bcm.edu	37	11	72945452	72945452	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr11:72945452C>T	ENST00000311131.2	+	3	715	c.248C>T	c.(247-249)gCg>gTg	p.A83V	P2RY2_ENST00000393596.2_Missense_Mutation_p.A83V|P2RY2_ENST00000393597.2_Missense_Mutation_p.A83V	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	83					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.A83V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCACTGTATGCGGCCTCCCTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	11											126	104	111					11																	72945452		2200	4293	6493	72623100	SO:0001583	missense	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.248C>T	11.37:g.72945452C>T	ENSP00000310305:p.Ala83Val		72623100	B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	6.415	0.444712	0.12164	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.37235	1.21;1.21;1.21	5.26	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.201227	0.43260	D	0.000600	T	0.08626	0.0214	N	0.00991	-1.07	0.32507	N	0.538097	B	0.20368	0.044	B	0.15052	0.012	T	0.34700	-0.9818	10	0.02654	T	1	.	3.8503	0.08953	0.0:0.6729:0.0:0.3271	.	83	P41231	P2RY2_HUMAN	V	83	ENSP00000377222:A83V;ENSP00000310305:A83V;ENSP00000377221:A83V	ENSP00000310305:A83V	A	+	2	0	P2RY2	72623100	1.000000	0.71417	0.918000	0.36340	0.930000	0.56654	6.122000	0.71608	2.460000	0.83146	0.650000	0.86243	GCG		0.592	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72945452	C	T	72945452	3	4	19	1	0	0	0	0	1	0	0	0	11352	768	27	1	250	1	P2RY2	11	72945452	Missense_Mutation	SNP	C	TCGA-04-1365-01A-01W-0490-10	46240080	72945452	62061064	16	1013											
AKAP6	9472	hgsc.bcm.edu	37	14	33147545	33147545	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr14:33147545C>T	ENST00000280979.4	+	8	2929	c.2759C>T	c.(2758-2760)gCa>gTa	p.A920V	AKAP6_ENST00000557272.1_Missense_Mutation_p.A920V|AKAP6_ENST00000557354.1_Missense_Mutation_p.A920V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	920					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.A920V(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TACCTGGAAGCACAAAGAGAT	0.433																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - Missense(1)	ovary(1)	14											120	105	110					14																	33147545		2203	4300	6503	32217296	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2759C>T	14.37:g.33147545C>T	ENSP00000280979:p.Ala920Val		32217296	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623906	0.66901	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.23552	3.13;1.9;1.91	5.3	5.3	0.74995	.	0.074599	0.56097	D	0.000035	T	0.19446	0.0467	N	0.19112	0.55	0.47183	D	0.999343	P;P	0.44690	0.841;0.841	B;B	0.38842	0.283;0.283	T	0.03706	-1.1011	10	0.72032	D	0.01	-5.0907	17.1295	0.86723	0.0:1.0:0.0:0.0	.	920;920	A7E242;Q13023	.;AKAP6_HUMAN	V	920	ENSP00000280979:A920V;ENSP00000450531:A920V;ENSP00000451247:A920V	ENSP00000280979:A920V	A	+	2	0	AKAP6	32217296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.356000	0.66052	2.480000	0.83734	0.585000	0.79938	GCA		0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		T	33147545	C	T	33147545	3	4	19	1	0	0	0	0	1	0	0	0	455	710	25	2	2785	2	AKAP6	14	33147545	Missense_Mutation	SNP	C	TCGA-04-1365-01A-01W-0490-10		33147545	74201995	17	1014											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36074913	36074913	+	Missense_Mutation	SNP	C	C	A	rs368964947		TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr14:36074913C>A	ENST00000389698.3	-	35	5804	c.5414G>T	c.(5413-5415)cGa>cTa	p.R1805L	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R1852L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1818L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1805L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1805	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R1805L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGTGTCTCTCGGCTATAAAA	0.318																																																1	Substitution - Missense(1)	ovary(1)	14											85	83	84					14																	36074913		2203	4299	6502	35144664	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5414G>T	14.37:g.36074913C>A	ENSP00000374348:p.Arg1805Leu		35144664	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.045642|5.045642	0.93685|0.93685	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000554573|ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.|D;D;D;D;D;D	.|0.93906	.|-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Rap/ran-GAP (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.97114	.|0.9057	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.996;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.997;0.954;1.0;0.988	.|D	.|0.97541	.|1.0086	.|10	.|0.87932	.|D	.|0	-9.6489|-9.6489	19.3243|19.3243	0.94254|0.94254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1852;1818;1805;1805	.|Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.|.;.;.;RGPA1_HUMAN	X|L	88|1805;1805;1805;1852;443;1818;1852	.|ENSP00000374348:R1805L;ENSP00000302647:R1805L;ENSP00000258840:R1852L;ENSP00000451133:R443L;ENSP00000371803:R1818L;ENSP00000451877:R1852L	.|ENSP00000258840:R1852L	E|R	-|-	1|2	0|0	RALGAPA1|RALGAPA1	35144664|35144664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.729000|7.729000	0.84864|0.84864	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.318	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		A	36074913	C	A	36074913	3	1	19	1	0	0	0	0	1	0	0	0	13016	884	31	3	873	3	RALGAPA1	14	36074913	Missense_Mutation	SNP	C	TCGA-04-1365-01A-01W-0490-10	2927368	36074913	71274627	18	1015											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36104683	36104683	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr14:36104683T>C	ENST00000389698.3	-	31	4670	c.4280A>G	c.(4279-4281)aAt>aGt	p.N1427S	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.N1474S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.N1440S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.N1427S	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1427	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.N1427S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATAAATGCAATTGAGAACAGA	0.343																																																1	Substitution - Missense(1)	ovary(1)	14											42	41	41					14																	36104683		2203	4300	6503	35174434	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4280A>G	14.37:g.36104683T>C	ENSP00000374348:p.Asn1427Ser		35174434	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469527	0.26423	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;1.63;-0.2;-0.2	5.41	4.27	0.50696	.	0.372310	0.35677	N	0.003060	T	0.39091	0.1065	N	0.15975	0.35	0.30607	N	0.759853	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.30650	-0.9971	10	0.10111	T	0.7	-14.7657	9.2232	0.37390	0.0:0.146:0.0:0.854	.	1474;1440;1427;1427	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	S	1427;1427;1427;1474;65;1440;1474	ENSP00000374348:N1427S;ENSP00000302647:N1427S;ENSP00000258840:N1474S;ENSP00000451133:N65S;ENSP00000371803:N1440S;ENSP00000451877:N1474S	ENSP00000258840:N1474S	N	-	2	0	RALGAPA1	35174434	1.000000	0.71417	0.974000	0.42286	0.952000	0.60782	3.026000	0.49689	1.003000	0.39130	0.460000	0.39030	AAT		0.343	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		C	36104683	T	C	36104683	3	2	19	1	0	0	0	0	1	0	0	0	13016	1493	52	4	2023	4	RALGAPA1	14	36104683	Missense_Mutation	SNP	T	TCGA-04-1365-01A-01W-0490-10	29770	36104683	71244857	19	1016											
ZFHX3	463	hgsc.bcm.edu	37	16	72992268	72992268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr16:72992268C>A	ENST00000268489.5	-	2	2449	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	593					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E593*(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTGGCACTTTCGTCAGCGAAG	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	16											110	104	106					16																	72992268		2198	4300	6498	71549769	SO:0001587	stop_gained	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1777G>T	16.37:g.72992268C>A	ENSP00000268489:p.Glu593*		71549769	D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	44	11.061677	0.99510	.	.	ENSG00000140836	ENST00000268489	.	.	.	5.04	5.04	0.67666	.	0.000000	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	18.7639	0.91864	0.0:1.0:0.0:0.0	.	.	.	.	X	593	.	ENSP00000268489:E593X	E	-	1	0	ZFHX3	71549769	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.398000	0.79919	2.505000	0.84491	0.650000	0.86243	GAA		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72992268	C	A	72992268	4	1	19	1	0	0	0	0	0	1	0	0	17634	893	31	3	9370	3	ZFHX3	16	72992268	Nonsense_Mutation	SNP	C	TCGA-04-1365-01A-01W-0490-10		72992268	17362485	20	1017											
TP53	7157	hgsc.bcm.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	CAGGGGAGTACTGTAGGAAGA	0.552		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"	51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	17											42	42	42					17																	7578555		2203	4300	6503	7519280	SO:0001630	splice_region_variant	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.376-1G>A	17.37:g.7578555C>T			7519280	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7578555	C	T	7578555	5	4	19	1	0	0	0	0	0	0	1	0	16381	579	20	2	923	2	TP53	17	7578555	Splice_Site	SNP	C	TCGA-04-1365-01A-01W-0490-10		7578555	73616655	21	1018											
COX10	1352	hgsc.bcm.edu	37	17	13972951	13972952	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr17:13972951_13972952delCA	ENST00000261643.3	+	1	106_107	c.29_30delCA	c.(28-30)tcafs	p.S10fs	COX10-AS1_ENST00000449363.1_RNA|COX10-AS1_ENST00000602743.1_RNA|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Frame_Shift_Del_p.S10fs|COX10-AS1_ENST00000602539.1_RNA|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	10					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)	p.R11fs*14(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ACTCTCTCCTCACGCCTCCTGA	0.624																																																1	Deletion - Frameshift(1)	ovary(1)	17																																								13913677	SO:0001589	frameshift_variant	1352			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.29_30delCA	17.37:g.13972951_13972952delCA	ENSP00000261643:p.Ser10fs		13913676	B2R6U5|B4DJ50|O15334|Q969F7	Frame_Shift_Del	DEL	ENST00000261643.3	37	CCDS11166.1																																																																																				0.624	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		-	13972952	CA	-	13972951	7	5	19	1	0	1	0	1	0	0	0	0	3762	838	29	0	31	0	COX10	17	13972951	Frame_Shift_Del	DEL	CA	TCGA-04-1365-01A-01W-0490-10	6394396	13972951	67222259	22	1019											
ASXL3	80816	hgsc.bcm.edu	37	18	31325799	31325800	+	Frame_Shift_Ins	INS	-	-	G			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr18:31325799_31325800insG	ENST00000269197.5	+	12	5987_5988	c.5987_5988insG	c.(5986-5991)atgaaafs	p.K1997fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1997					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K1997fs*4(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATATGCCCATGAAAGAAGGTG	0.545																																																1	Insertion - Frameshift(1)	ovary(1)	18																																								29579798	SO:0001589	frameshift_variant	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5988dupG	18.37:g.31325800_31325800dupG	ENSP00000269197:p.Lys1997fs		29579797	Q6ZMX6|Q96MU3|Q9UFC5	Frame_Shift_Ins	INS	ENST00000269197.5	37	CCDS45847.1																																																																																				0.545	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			G	31325800	-	G	31325799	7	5	19	1	0	1	1	0	0	0	0	0	1068	1464	51	0	6033	0	ASXL3	18	31325799	Frame_Shift_Ins	INS	-	TCGA-04-1365-01A-01W-0490-10		31325799	46751449	23	1020											
AKAP8	10270	hgsc.bcm.edu	37	19	15469826	15469826	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr19:15469826A>C	ENST00000269701.2	-	13	1635	c.1575T>G	c.(1573-1575)agT>agG	p.S525R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	525					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S525R(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGTTCAAAACACTCTTAGCCA	0.408																																					GBM(190;1671 2163 3274 27186 30476)											1	Substitution - Missense(1)	ovary(1)	19											161	145	150					19																	15469826		2203	4300	6503	15330826	SO:0001583	missense	10270			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1575T>G	19.37:g.15469826A>C	ENSP00000269701:p.Ser525Arg		15330826		Missense_Mutation	SNP	ENST00000269701.2	37	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298847	0.60195	.	.	ENSG00000105127	ENST00000269701	T	0.50277	0.75	5.84	-1.16	0.09678	.	0.000000	0.64402	D	0.000015	T	0.54935	0.1889	L	0.47190	1.495	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.51694	-0.8673	10	0.87932	D	0	-25.2211	10.7936	0.46447	0.5709:0.0:0.4291:0.0	.	525	O43823	AKAP8_HUMAN	R	525	ENSP00000269701:S525R	ENSP00000269701:S525R	S	-	3	2	AKAP8	15330826	1.000000	0.71417	0.928000	0.36995	0.647000	0.38526	0.649000	0.24843	-0.670000	0.05282	-0.376000	0.06991	AGT		0.408	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		C	15469826	A	C	15469826	3	2	19	1	0	0	0	0	1	0	0	0	457	156	6	5	511	5	AKAP8	19	15469826	Missense_Mutation	SNP	A	TCGA-04-1365-01A-01W-0490-10		15469826	43659157	24	1021											
ZNF180	7733	hgsc.bcm.edu	37	19	45001361	45001361	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr19:45001361G>A	ENST00000221327.4	-	2	388	c.107C>T	c.(106-108)cCa>cTa	p.P36L	ZNF180_ENST00000391956.4_Missense_Mutation_p.P36L|ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000586637.1_Nonsense_Mutation_p.Q5*|ZNF180_ENST00000592529.1_Missense_Mutation_p.P9L|ZNF180_ENST00000587047.1_Nonsense_Mutation_p.Q38*	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P36L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CGGGGGCTCTGGGGGCTTCTC	0.612																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)											1	Substitution - Missense(1)	ovary(1)	19											41	39	40					19																	45001361		2203	4300	6503	49693201	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.107C>T	19.37:g.45001361G>A	ENSP00000221327:p.Pro36Leu		49693201	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267915	0.40095	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07688	3.23;3.17	3.74	-2.61	0.06171	.	.	.	.	.	T	0.03871	0.0109	N	0.14661	0.345	0.53688	A	0.999979	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.42882	-0.9425	8	0.72032	D	0.01	0.1136	0.7119	0.00926	0.3088:0.1651:0.3572:0.1689	.	36;35;36	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	L	36	ENSP00000221327:P36L;ENSP00000375818:P36L	ENSP00000221327:P36L	P	-	2	0	ZNF180	49693201	0.042000	0.20092	0.010000	0.14722	0.560000	0.35617	-0.115000	0.10741	-0.321000	0.08627	0.655000	0.94253	CCA		0.612	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		A	45001361	G	A	45001361	3	1	19	1	0	0	0	0	1	0	0	0	17748	1348	47	2	1987	2	ZNF180	19	45001361	Missense_Mutation	SNP	G	TCGA-04-1365-01A-01W-0490-10	29531535	45001361	14127622	25	1022											
SNRPB	6628	hgsc.bcm.edu	37	20	2446385	2446385	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr20:2446385G>A	ENST00000438552.2	-	3	398	c.236C>T	c.(235-237)tCa>tTa	p.S79L	SNRPB_ENST00000339610.6_5'UTR|SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_Missense_Mutation_p.S79L	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	79			S -> P (in dbSNP:rs11545672).		gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.S79L(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TACTGTCATTGAGACCAGATT	0.532																																																1	Substitution - Missense(1)	ovary(1)	20											137	115	123					20																	2446385		2203	4300	6503	2394385	SO:0001583	missense	6628				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.236C>T	20.37:g.2446385G>A	ENSP00000412566:p.Ser79Leu		2394385	Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841024	0.91197	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103	T;T	0.36157	1.27;1.27	4.81	4.81	0.61882	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	L	0.45051	1.395	0.80722	D	1	P;P;P	0.45672	0.759;0.759;0.864	P;P;P	0.46339	0.513;0.513;0.513	T	0.35001	-0.9806	10	0.87932	D	0	.	15.4175	0.74983	0.0:0.0:1.0:0.0	.	79;79;79	B4DVS0;Q66K91;P14678	.;.;RSMB_HUMAN	L	79	ENSP00000370746:S79L;ENSP00000412566:S79L	ENSP00000303591:S79L	S	-	2	0	SNRPB	2394385	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	9.648000	0.98483	2.491000	0.84063	0.655000	0.94253	TCA		0.532	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			A	2446385	G	A	2446385	3	1	19	1	0	0	0	0	1	0	0	0	14864	1294	45	2	521	2	SNRPB	20	2446385	Missense_Mutation	SNP	G	TCGA-04-1365-01A-01W-0490-10		2446385	60579135	26	1023											
NCOA3	8202	hgsc.bcm.edu	37	20	46277797	46277798	+	In_Frame_Ins	INS	-	-	CTG	rs551807396|rs34878970		TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr20:46277797_46277798insCTG	ENST00000371998.3	+	19	3786_3787	c.3595_3596insCTG	c.(3595-3597)act>aCTGct	p.1200_1201insA	NCOA3_ENST00000341724.6_In_Frame_Ins_p.1130_1131insA|NCOA3_ENST00000372004.3_In_Frame_Ins_p.1200_1201insA|NCOA3_ENST00000371997.3_In_Frame_Ins_p.1195_1196insA			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1200	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.A1200_G1201insA(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAAAACCCTACTGCTGGTGGT	0.515																																																1	Insertion - In frame(1)	ovary(1)	20																																								45711205	SO:0001652	inframe_insertion	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3599_3601dupCTG	20.37:g.46277801_46277803dupCTG	ENSP00000361066:p.Ala1200_Ala1200dup		45711204	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	In_Frame_Ins	INS	ENST00000371998.3	37	CCDS13407.1																																																																																				0.515	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		CTG	46277798	-	CTG	46277797	7	5	19	1	0	1	1	0	0	0	0	0	10230	391	14	0	3691	0	NCOA3	20	46277797	In_Frame_Ins	INS	-	TCGA-04-1365-01A-01W-0490-10	43831412	46277797	16747723	27	1024											
C20orf85	128602	hgsc.bcm.edu	37	20	56735753	56735753	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr20:56735753G>T	ENST00000371168.3	+	4	350	c.289G>T	c.(289-291)Ggc>Tgc	p.G97C		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	97								p.G97C(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GACCACCCAGGGCTTCATCGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	20											45	40	41					20																	56735753		2203	4300	6503	56169159	SO:0001583	missense	128602			AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"Low in Lung Cancer 1"						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.289G>T	20.37:g.56735753G>T	ENSP00000360210:p.Gly97Cys		56169159		Missense_Mutation	SNP	ENST00000371168.3	37	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122784	0.77436	.	.	ENSG00000124237	ENST00000371168	T	0.29397	1.57	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.59128	0.2171	M	0.82056	2.57	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.64364	-0.6425	10	0.87932	D	0	-15.6679	16.7327	0.85439	0.0:0.0:1.0:0.0	.	97	Q9H1P6	CT085_HUMAN	C	97	ENSP00000360210:G97C	ENSP00000360210:G97C	G	+	1	0	C20orf85	56169159	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.411000	0.59781	2.561000	0.86390	0.561000	0.74099	GGC		0.572	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		T	56735753	G	T	56735753	3	4	19	1	0	0	0	0	1	0	0	0	2120	1232	43	3	303	3	C20orf85	20	56735753	Missense_Mutation	SNP	G	TCGA-04-1365-01A-01W-0490-10	10457956	56735753	6289767	28	1025											
TMPRSS2	7113	hgsc.bcm.edu	37	21	42840396	42840396	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chr21:42840396T>A	ENST00000332149.5	-	12	1375	c.1241A>T	c.(1240-1242)tAt>tTt	p.Y414F	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.Y451F|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.Y414F	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	414	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Y414F(3)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTCATAGACATATCTGCTGTT	0.488			T	"ERG, ETV1, ETV4, ETV5"	prostate																																		Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	3	Substitution - Missense(3)	ovary(3)	21											202	157	173					21																	42840396		2203	4300	6503	41762266	SO:0001583	missense	7113			U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1241A>T	21.37:g.42840396T>A	ENSP00000330330:p.Tyr414Phe		41762266	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	T	0.125	-1.121182	0.01785	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.33	-0.232	0.13082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.599918	0.15901	N	0.239087	T	0.42743	0.1216	L	0.28400	0.85	0.09310	N	1	B;B	0.18013	0.009;0.025	B;B	0.27076	0.028;0.076	T	0.30357	-0.9981	10	0.10902	T	0.67	.	6.6277	0.22839	0.5256:0.0:0.136:0.3384	.	451;414	F8WES1;O15393	.;TMPS2_HUMAN	F	414;451;414;414	ENSP00000330330:Y414F;ENSP00000381588:Y451F;ENSP00000391216:Y414F;ENSP00000389006:Y414F	ENSP00000330330:Y414F	Y	-	2	0	TMPRSS2	41762266	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.364000	0.07583	-0.279000	0.09167	0.533000	0.62120	TAT		0.488	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			A	42840396	T	A	42840396	3	1	19	1	0	0	0	0	1	0	0	0	16247	1406	49	5	249	5	TMPRSS2	21	42840396	Missense_Mutation	SNP	T	TCGA-04-1365-01A-01W-0490-10		42840396	5289499	29	1026											
DMD	1756	hgsc.bcm.edu	37	X	31140012	31140012	+	Missense_Mutation	SNP	C	C	A	rs372284841		TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chrX:31140012C>A	ENST00000474231.1	-	35	4710	c.3670G>T	c.(3670-3672)Gat>Tat	p.D1224Y	DMD_ENST00000343523.2_Missense_Mutation_p.D1114Y|DMD_ENST00000378707.3_3'UTR|DMD_ENST00000359836.1_Missense_Mutation_p.D1211Y|DMD_ENST00000378723.3_Missense_Mutation_p.D616Y|DMD_ENST00000378677.2_3'UTR|DMD_ENST00000378702.4_3'UTR|DMD_ENST00000541735.1_3'UTR|DMD_ENST00000361471.4_Missense_Mutation_p.D603Y|DMD_ENST00000378680.2_Missense_Mutation_p.D506Y|DMD_ENST00000357033.4_3'UTR	NM_004021.2	NP_004012	P11532	DMD_HUMAN	dystrophin	0					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCAAATCATCTGCCATG	0.398																																																0			X											150	126	134					X																	31140012		2202	4300	6502	31049933	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000474231.1:c.3670G>T	X.37:g.31140012C>A	ENSP00000417123:p.Asp1224Tyr		31049933	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000474231.1	37		.	.	.	.	.	.	.	.	.	.	C	16.68	3.191218	0.58017	.	.	ENSG00000198947	ENST00000378723;ENST00000358062;ENST00000359836;ENST00000343523;ENST00000474231;ENST00000361471;ENST00000378680	T;T;T;T;T;T;T	0.24723	2.06;3.75;3.67;3.41;3.73;2.03;1.84	5.3	5.3	0.74995	.	.	.	.	.	T	0.46328	0.1387	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D;D	0.89917	0.971;1.0;0.995;0.995;0.983;0.971	P;D;P;P;P;P	0.70935	0.667;0.971;0.908;0.908;0.821;0.667	T	0.31475	-0.9942	9	0.49607	T	0.09	.	18.1176	0.89561	0.0:1.0:0.0:0.0	.	506;1211;1224;1114;603;616	B4DSV7;F8VX32;E7ESB2;E7EQR9;P11532-5;Q8N754	.;.;.;.;.;.	Y	616;1367;1211;1114;1224;603;506	ENSP00000367997:D616Y;ENSP00000350765:D1367Y;ENSP00000352894:D1211Y;ENSP00000340057:D1114Y;ENSP00000417123:D1224Y;ENSP00000354464:D603Y;ENSP00000367951:D506Y	ENSP00000340057:D1114Y	D	-	1	0	DMD	31049933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.281000	0.65609	2.471000	0.83476	0.523000	0.50628	GAT		0.398	DMD-016	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000356267.1	NM_004006		A	31140012	C	A	31140012	3	1	19	1	0	0	0	0	1	0	0	0	4580	826	29	3	65	3	DMD	23	31140012	Missense_Mutation	SNP	C	TCGA-04-1365-01A-01W-0490-10		31140012	124130548	30	1027											
DOCK11	139818	hgsc.bcm.edu	37	X	117731481	117731497	+	Frame_Shift_Del	DEL	GCTACTTGAATCTGAAT	GCTACTTGAATCTGAAT	-			TCGA-04-1365-01A-01W-0490-10	TCGA-04-1365-10A-01W-0490-10	GCTACTTGAATCTGAAT	GCTACTTGAATCTGAAT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1f8ba3a5-b995-4582-b8e4-3f99d042737c	efb588f1-26a9-4786-8111-bab6bfecb0fb	g.chrX:117731481_117731497delGCTACTTGAATCTGAAT	ENST00000276202.7	+	21	2414_2430	c.2351_2367delGCTACTTGAATCTGAAT	c.(2350-2367)ggctacttgaatctgaatfs	p.GYLNLN784fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.GYLNLN784fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	784	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y785fs*8(1)|p.L788M(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTTCCCCCAGGCTACTTGAATCTGAATGATGCAGAAT	0.406																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)	X																																								117615525	SO:0001589	frameshift_variant	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2351_2367delGCTACTTGAATCTGAAT	X.37:g.117731481_117731497delGCTACTTGAATCTGAAT	ENSP00000276202:p.Gly784fs		117615509	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	ENST00000276202.7	37	CCDS35373.1																																																																																				0.406	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		-	117731497	GCTACTTGAATCTGAAT	-	117731481	7	5	19	1	0	1	0	1	0	0	0	0	4686	1203	42	0	2433	0	DOCK11	23	117731481	Frame_Shift_Del	DEL	GCTACTTGAATCTGAAT	TCGA-04-1365-01A-01W-0490-10	86591469	117731481	37539079	31	1028											
SMPDL3B	27293	broad.mit.edu	37	1	28280902	28280902	+	Silent	SNP	G	G	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr1:28280902G>T	ENST00000373894.3	+	5	746	c.555G>T	c.(553-555)ggG>ggT	p.G185G	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Silent_p.G185G|SMPDL3B_ENST00000549094.1_Silent_p.G137G	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	185					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.G185G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GTCCCAGCGGGGCTGGGCGAA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	1											128	135	132					1																	28280902		2203	4300	6503	28153489	SO:0001819	synonymous_variant	27293			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.555G>T	1.37:g.28280902G>T			28153489	B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	CCDS30655.1																																																																																				0.607	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		T	28280902	G	T	28280902	2	4	20	1	0	0	0	0	0	0	0	1	14812	1219	43	3		3	SMPDL3B	1	28280902	Silent	SNP	G	TCGA-04-1367-01A-01W-0492-08		28280902	220969719	1	1029											
GNL2	29889	broad.mit.edu	37	1	38040287	38040287	+	Silent	SNP	G	G	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr1:38040287G>A	ENST00000373062.3	-	11	1379	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	427					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.F427F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCCCAGTCCGGAAAGCGAGCT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	1											72	67	68					1																	38040287		2203	4300	6503	37812874	SO:0001819	synonymous_variant	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1281C>T	1.37:g.38040287G>A			37812874	Q9BWN7	Silent	SNP	ENST00000373062.3	37	CCDS421.1																																																																																				0.413	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		A	38040287	G	A	38040287	2	1	20	1	0	0	0	0	0	0	0	1	6536	1165	41	2		2	GNL2	1	38040287	Silent	SNP	G	TCGA-04-1367-01A-01W-0492-08	9759385	38040287	211210334	2	1030											
ITGA10	8515	broad.mit.edu	37	1	145533916	145533916	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr1:145533916G>A	ENST00000369304.3	+	13	1737	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	ITGA10_ENST00000538811.1_Missense_Mutation_p.R390H|ITGA10_ENST00000539363.1_Missense_Mutation_p.R378H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	521					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R521H(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAACAGGACGTGTTTATGTG	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											92	84	87					1																	145533916		2203	4300	6503	144245273	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1562G>A	1.37:g.145533916G>A	ENSP00000358310:p.Arg521His		144245273	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547924	0.65311	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.11277	2.79;2.79;2.79	5.27	3.36	0.38483	.	0.229765	0.35124	N	0.003428	T	0.19366	0.0465	M	0.81179	2.53	0.43750	D	0.996253	D;D;D;D	0.89917	0.972;0.972;1.0;0.977	P;B;D;B	0.70716	0.55;0.445;0.97;0.425	T	0.01259	-1.1403	10	0.87932	D	0	.	8.5873	0.33666	0.0855:0.1549:0.7596:0.0	.	487;390;378;521	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	H	521;487;378;390	ENSP00000358310:R521H;ENSP00000439894:R378H;ENSP00000440011:R390H	ENSP00000358310:R521H	R	+	2	0	ITGA10	144245273	0.991000	0.36638	0.986000	0.45419	0.999000	0.98932	4.102000	0.57776	0.587000	0.29643	0.655000	0.94253	CGT		0.547	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		A	145533916	G	A	145533916	3	1	20	1	0	0	0	0	1	0	0	0	7873	1145	40	1	1612	1	ITGA10	1	145533916	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	107493629	145533916	103716705	3	1031											
FAM63A	55793	broad.mit.edu	37	1	150970610	150970610	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr1:150970610G>A	ENST00000361936.5	-	9	2075	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	FAM63A_ENST00000361738.6_Missense_Mutation_p.P422L|FAM63A_ENST00000470877.1_5'Flank|FAM63A_ENST00000312210.5_Missense_Mutation_p.P232L|FAM63A_ENST00000493834.2_Missense_Mutation_p.P279L	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	374						extracellular vesicular exosome (GO:0070062)		p.P374L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTGCTCCAGGCCCCTTGCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											121	120	120					1																	150970610		2203	4300	6503	149237234	SO:0001583	missense	55793			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.1121C>T	1.37:g.150970610G>A	ENSP00000354814:p.Pro374Leu		149237234	B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	CCDS976.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.901007	0.33535	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.50813	0.79;0.77;0.73;0.81	4.36	2.38	0.29361	.	0.493926	0.22305	N	0.061802	T	0.18045	0.0433	L	0.43152	1.355	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.18561	0.022;0.007	T	0.21143	-1.0254	10	0.39692	T	0.17	-0.044	8.3583	0.32344	0.0:0.1637:0.6538:0.1824	.	422;374	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	L	232;374;422;279	ENSP00000310923:P232L;ENSP00000354814:P374L;ENSP00000354669:P422L;ENSP00000437174:P279L	ENSP00000310923:P232L	P	-	2	0	FAM63A	149237234	0.975000	0.34042	0.003000	0.11579	0.965000	0.64279	4.102000	0.57776	0.422000	0.26005	0.555000	0.69702	CCT		0.562	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		A	150970610	G	A	150970610	3	1	20	1	0	0	0	0	1	0	0	0	5596	1000	35	2	300	2	FAM63A	1	150970610	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	5436694	150970610	98280011	4	1032											
APCS	325	broad.mit.edu	37	1	159558225	159558225	+	Silent	SNP	G	G	A	rs151221908		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr1:159558225G>A	ENST00000255040.2	+	2	496	c.399G>A	c.(397-399)ttG>ttA	p.L133L		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	133	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.L133L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GGACACCTTTGGTGAAAAAGG	0.498																																																1	Substitution - coding silent(1)	ovary(1)	1											74	74	74					1																	159558225		2203	4300	6503	157824849	SO:0001819	synonymous_variant	325				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.399G>A	1.37:g.159558225G>A			157824849		Silent	SNP	ENST00000255040.2	37	CCDS1186.1																																																																																				0.498	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		A	159558225	G	A	159558225	2	1	20	1	0	0	0	0	0	0	0	1	767	1339	47	2		2	APCS	1	159558225	Silent	SNP	G	TCGA-04-1367-01A-01W-0492-08	8587615	159558225	89692396	5	1033											
SEC16B	89866	broad.mit.edu	37	1	177928095	177928105	+	Frame_Shift_Del	DEL	CTTATGTACAT	CTTATGTACAT	-	rs188833273		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	CTTATGTACAT	CTTATGTACAT	-	-	CTTATGTACAT	CTTATGTACAT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr1:177928095_177928105delCTTATGTACAT	ENST00000308284.6	-	9	1093_1103	c.1004_1014delATGTACATAAG	c.(1003-1014)gatgtacataagfs	p.DVHK335fs	SEC16B_ENST00000464631.2_Frame_Shift_Del_p.DVHK336fs|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	335					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.D336fs*18(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TAATATCCACCTTATGTACATCTTCCCTACA	0.507																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								176194728	SO:0001589	frameshift_variant	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1004_1014delATGTACATAAG	1.37:g.177928095_177928105delCTTATGTACAT	ENSP00000308339:p.Asp335fs		176194718	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Frame_Shift_Del	DEL	ENST00000308284.6	37	CCDS44281.1																																																																																				0.507	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		-	177928105	CTTATGTACAT	-	177928095	7	5	20	1	0	1	0	1	0	0	0	0	13990	680	24	0	2240	0	SEC16B	1	177928095	Frame_Shift_Del	DEL	CTTATGTACAT	TCGA-04-1367-01A-01W-0492-08	18369870	177928095	71322526	6	1034											
DHX9	1660	broad.mit.edu	37	1	182822552	182822566	+	Splice_Site	DEL	CGGTAAGGCCAGCAC	CGGTAAGGCCAGCAC	-	rs201554390|rs544355760		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	CGGTAAGGCCAGCAC	CGGTAAGGCCAGCAC	-	-	CGGTAAGGCCAGCAC	CGGTAAGGCCAGCAC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr1:182822552_182822566delCGGTAAGGCCAGCAC	ENST00000367549.3	+	5	586_587	c.476_477delCGGTAAGGCCAGCAC	c.(475-477)gcg>g	p.A159del		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	159	Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAAGTGCAAGCGGTAAGGCCAGCACCGTAGGTTAC	0.465																																					Colon(69;210 1162 3697 13559 39565)											1	Unknown(1)	ovary(1)	1																																								181089189	SO:0001630	splice_region_variant	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.477+1CGGTAAGGCCAGCAC>-	1.37:g.182822552_182822566delCGGTAAGGCCAGCAC			181089175	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Splice_Site	DEL	ENST00000367549.3	37	CCDS41444.1																																																																																				0.465	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	In_Frame_Del	-	182822566	CGGTAAGGCCAGCAC	-	182822552	8	5	20	1	0	1	0	1	0	0	1	0	4516	782	27	0	490	0	DHX9	1	182822552	Splice_Site	DEL	CGGTAAGGCCAGCAC	TCGA-04-1367-01A-01W-0492-08	4894457	182822552	66428069	7	1035											
NPHP1	4867	broad.mit.edu	37	2	110922218	110922218	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr2:110922218A>C	ENST00000393272.3	-	8	915	c.818T>G	c.(817-819)aTa>aGa	p.I273R	NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Missense_Mutation_p.I273R|NPHP1_ENST00000445609.2_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	273					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.I273R(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATCAGAACTATTAGGTAGCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											175	174	174					2																	110922218		2203	4300	6503	110279507	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.818T>G	2.37:g.110922218A>C	ENSP00000376953:p.Ile273Arg		110279507	O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	A	9.044	0.990357	0.18966	.	.	ENSG00000144061	ENST00000316534;ENST00000393272	T;T	0.64438	-0.09;-0.1	4.17	0.256	0.15567	.	0.540328	0.15115	U	0.279711	T	0.42743	0.1216	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15983	-1.0418	10	0.24483	T	0.36	.	3.2137	0.06691	0.5183:0.2167:0.265:0.0	.	273;273	O15259;O15259-4	NPHP1_HUMAN;.	R	273	ENSP00000313169:I273R;ENSP00000376953:I273R	ENSP00000313169:I273R	I	-	2	0	NPHP1	110279507	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.071000	0.11505	0.211000	0.20683	-0.460000	0.05396	ATA		0.468	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		C	110922218	A	C	110922218	3	2	20	1	0	0	0	0	1	0	0	0	10579	449	16	5	1435	5	NPHP1	2	110922218	Missense_Mutation	SNP	A	TCGA-04-1367-01A-01W-0492-08		110922218	132277155	8	1036											
CYTIP	9595	broad.mit.edu	37	2	158272527	158272527	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr2:158272527T>A	ENST00000264192.3	-	8	863	c.742A>T	c.(742-744)Agc>Tgc	p.S248C	CYTIP_ENST00000540637.1_Missense_Mutation_p.S142C	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	248	Ser-rich.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)		p.S248C(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTCAGCCAGCTCTTACAGCTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											66	62	63					2																	158272527		2203	4300	6503	157980773	SO:0001583	missense	9595			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.742A>T	2.37:g.158272527T>A	ENSP00000264192:p.Ser248Cys		157980773	B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552069	0.86127	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.55234	1.77;0.53	5.45	5.45	0.79879	.	0.091449	0.64402	D	0.000001	T	0.68311	0.2987	L	0.57536	1.79	0.49213	D	0.999762	D	0.89917	1.0	D	0.71184	0.972	T	0.70655	-0.4812	10	0.59425	D	0.04	-18.491	15.167	0.72837	0.0:0.0:0.0:1.0	.	248	O60759	CYTIP_HUMAN	C	248;142	ENSP00000264192:S248C;ENSP00000440801:S142C	ENSP00000264192:S248C	S	-	1	0	CYTIP	157980773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.903000	0.69877	2.065000	0.61736	0.533000	0.62120	AGC		0.552	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		A	158272527	T	A	158272527	3	1	20	1	0	0	0	0	1	0	0	0	4207	1551	54	5	341	5	CYTIP	2	158272527	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	47350309	158272527	84926846	9	1037											
TANC1	85461	broad.mit.edu	37	2	160035144	160035144	+	Silent	SNP	G	G	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr2:160035144G>A	ENST00000263635.6	+	14	2217	c.1980G>A	c.(1978-1980)ctG>ctA	p.L660L	TANC1_ENST00000454300.1_Silent_p.L554L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	660					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.L660L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACAGTGACCTGCACGCCTACG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	2											58	60	59					2																	160035144		2158	4258	6416	159743390	SO:0001819	synonymous_variant	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1980G>A	2.37:g.160035144G>A			159743390	C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	CCDS42766.1																																																																																				0.512	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			A	160035144	G	A	160035144	2	1	20	1	0	0	0	0	0	0	0	1	15544	1306	46	2		2	TANC1	2	160035144	Silent	SNP	G	TCGA-04-1367-01A-01W-0492-08	1762617	160035144	83164229	10	1038											
FASTKD1	79675	broad.mit.edu	37	2	170393765	170393765	+	Silent	SNP	C	C	T	rs372027328		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr2:170393765C>T	ENST00000453153.2	-	12	2506	c.2160G>A	c.(2158-2160)tcG>tcA	p.S720S	FASTKD1_ENST00000453929.2_Silent_p.S677S|FASTKD1_ENST00000495505.1_Intron	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	720					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.S720S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GCGTAAGAACCGAGGCTTTTA	0.328																																																1	Substitution - coding silent(1)	ovary(1)	2						C		1,4405	2.1+/-5.4	0,1,2202	129	125	127		2160	-11	0	2		127	0,8600		0,0,4300	no	coding-synonymous	FASTKD1	NM_024622.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		720/848	170393765	1,13005	2203	4300	6503	170102011	SO:0001819	synonymous_variant	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2160G>A	2.37:g.170393765C>T			170102011	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																				0.328	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		T	170393765	C	T	170393765	2	4	20	1	0	0	0	0	0	0	0	1	5685	639	23	1		1	FASTKD1	2	170393765	Silent	SNP	C	TCGA-04-1367-01A-01W-0492-08	10358621	170393765	72805608	11	1039											
IRS1	3667	broad.mit.edu	37	2	227659994	227659994	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr2:227659994C>A	ENST00000305123.5	-	1	4481	c.3461G>T	c.(3460-3462)gGg>gTg	p.G1154V	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1154					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G1154V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCCAAGCTCCCCAGGCCTCAG	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											48	56	53					2																	227659994		2203	4300	6503	227368238	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3461G>T	2.37:g.227659994C>A	ENSP00000304895:p.Gly1154Val		227368238		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876521	0.51801	.	.	ENSG00000169047	ENST00000305123	T	0.59502	0.26	5.92	5.04	0.67666	.	0.077356	0.51477	D	0.000089	T	0.40886	0.1135	L	0.38175	1.15	0.51012	D	0.999906	P	0.35077	0.483	B	0.24394	0.053	T	0.38265	-0.9669	10	0.46703	T	0.11	-11.9747	7.8625	0.29517	0.1239:0.6906:0.1196:0.0658	.	1154	P35568	IRS1_HUMAN	V	1154	ENSP00000304895:G1154V	ENSP00000304895:G1154V	G	-	2	0	IRS1	227368238	0.001000	0.12720	1.000000	0.80357	0.971000	0.66376	0.729000	0.26028	1.486000	0.48398	0.655000	0.94253	GGG		0.607	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		A	227659994	C	A	227659994	3	1	20	1	0	0	0	0	1	0	0	0	7840	623	22	3	271	3	IRS1	2	227659994	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	57266229	227659994	15539379	12	1040											
COL6A3	1293	broad.mit.edu	37	2	238287412	238287412	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr2:238287412C>A	ENST00000295550.4	-	6	2816	c.2364G>T	c.(2362-2364)caG>caT	p.Q788H	COL6A3_ENST00000392003.2_Missense_Mutation_p.Q381H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q582H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q582H|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q582H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q587H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	788	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q788H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAAAAGCAATCTGCTCAAGCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											75	69	71					2																	238287412		2203	4300	6503	237952151	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2364G>T	2.37:g.238287412C>A	ENSP00000295550:p.Gln788His		237952151	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920168	0.33908	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.52	3.66	0.41972	von Willebrand factor, type A (3);	0.141202	0.32430	N	0.006115	T	0.72028	0.3410	L	0.35341	1.055	0.80722	D	1	B;B;B;B	0.31227	0.001;0.006;0.314;0.02	B;B;B;B	0.35240	0.008;0.012;0.198;0.018	T	0.65232	-0.6218	10	0.45353	T	0.12	.	3.3173	0.07038	0.1504:0.571:0.1364:0.1422	.	381;582;582;788	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	H	788;587;582;582;582;381	ENSP00000295550:Q788H;ENSP00000315609:Q587H;ENSP00000315873:Q582H;ENSP00000386844:Q582H;ENSP00000375861:Q582H;ENSP00000375860:Q381H	ENSP00000295550:Q788H	Q	-	3	2	COL6A3	237952151	0.900000	0.30661	0.998000	0.56505	0.997000	0.91878	0.066000	0.14489	0.632000	0.30432	0.655000	0.94253	CAG		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238287412	C	A	238287412	3	1	20	1	0	0	0	0	1	0	0	0	3701	912	32	3	7372	3	COL6A3	2	238287412	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	10627418	238287412	4911961	13	1041											
CELSR3	1951	broad.mit.edu	37	3	48697377	48697377	+	Silent	SNP	C	C	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr3:48697377C>A	ENST00000164024.4	-	1	2971	c.2691G>T	c.(2689-2691)ctG>ctT	p.L897L	CELSR3_ENST00000544264.1_Silent_p.L897L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	897	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L897L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTTGTCCTCCAGGAGATAGG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	3											101	89	93					3																	48697377		2203	4300	6503	48672381	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2691G>T	3.37:g.48697377C>A			48672381	O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.522	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48697377	C	A	48697377	2	1	20	1	0	0	0	0	0	0	0	1	3223	581	21	3		3	CELSR3	3	48697377	Silent	SNP	C	TCGA-04-1367-01A-01W-0492-08		48697377	149325053	14	1042											
SLC38A3	10991	broad.mit.edu	37	3	50257508	50257508	+	RNA	SNP	C	C	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr3:50257508C>A	ENST00000420502.1	+	0	1567									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		TCCACAGGCCCTGTGTTTTGC	0.572																																																0			3											100	94	96					3																	50257508		2038	4179	6217	50232512			10991			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50257508C>A			50232512		Missense_Mutation	SNP	ENST00000420502.1	37																																																																																					0.572	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		A	50257508	C	A	50257508	1	1	20	0	1	0	0	0	0	0	0	0	14608	680	24	3		3	SLC38A3	3	50257508	RNA	SNP	C	TCGA-04-1367-01A-01W-0492-08	1560131	50257508	147764922	15	1043											
EPHA3	2042	broad.mit.edu	37	3	89456515	89456515	+	Missense_Mutation	SNP	T	T	A	rs536008328		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr3:89456515T>A	ENST00000336596.2	+	8	1916	c.1691T>A	c.(1690-1692)aTt>aAt	p.I564N	EPHA3_ENST00000494014.1_Missense_Mutation_p.I564N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	564			I -> V (in dbSNP:rs55712516). {ECO:0000269|PubMed:17344846}.		cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.I564N(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TATGTTTTGATTGGGAGGTGA	0.413										TSP Lung(6;0.00050)																																						1	Substitution - Missense(1)	ovary(1)	3											191	158	170					3																	89456515		2203	4300	6503	89539205	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1691T>A	3.37:g.89456515T>A	ENSP00000337451:p.Ile564Asn		89539205	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.662232	0.29515	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.11930	2.73;2.73	5.89	4.74	0.60224	.	0.047591	0.85682	D	0.000000	T	0.17066	0.0410	M	0.72894	2.215	0.58432	D	0.999992	B	0.24823	0.112	B	0.21360	0.034	T	0.02070	-1.1219	9	.	.	.	.	12.0932	0.53739	0.0:0.0668:0.0:0.9332	.	564	P29320	EPHA3_HUMAN	N	564	ENSP00000337451:I564N;ENSP00000419190:I564N	.	I	+	2	0	EPHA3	89539205	1.000000	0.71417	0.999000	0.59377	0.218000	0.24690	3.926000	0.56491	1.055000	0.40461	-0.254000	0.11334	ATT		0.413	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		A	89456515	T	A	89456515	3	1	20	1	0	0	0	0	1	0	0	0	5168	1493	52	5	1747	5	EPHA3	3	89456515	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	39199007	89456515	108565915	16	1044											
KIAA2018	205717	broad.mit.edu	37	3	113379976	113379976	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr3:113379976G>C	ENST00000478658.1	-	5	570	c.553C>G	c.(553-555)Cca>Gca	p.P185A	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.P185A			Q68DE3	K2018_HUMAN	KIAA2018	185						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.P185A(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTCTGTACTGGCACCACATTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	3											131	132	131					3																	113379976		1930	4125	6055	114862666	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.553C>G	3.37:g.113379976G>C	ENSP00000420721:p.Pro185Ala		114862666	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798184	0.50208	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.17528	2.27;2.27	5.95	5.95	0.96441	.	0.141155	0.49305	D	0.000141	T	0.31638	0.0803	L	0.27053	0.805	0.58432	D	0.999995	D	0.67145	0.996	D	0.65443	0.935	T	0.02196	-1.1197	10	0.87932	D	0	-12.8325	20.3854	0.98941	0.0:0.0:1.0:0.0	.	185	Q68DE3	K2018_HUMAN	A	185	ENSP00000320794:P185A;ENSP00000420721:P185A	ENSP00000320794:P185A	P	-	1	0	KIAA2018	114862666	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.065000	0.64344	2.825000	0.97269	0.655000	0.94253	CCA		0.463	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		C	113379976	G	C	113379976	3	2	20	1	0	0	0	0	1	0	0	0	8268	1203	42	3	6188	3	KIAA2018	3	113379976	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	23923461	113379976	84642454	17	1045											
LRRC31	79782	broad.mit.edu	37	3	169578465	169578465	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr3:169578465T>C	ENST00000316428.5	-	3	428	c.371A>G	c.(370-372)aAt>aGt	p.N124S	LRRC31_ENST00000523069.1_Missense_Mutation_p.N124S|LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	124								p.N124S(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TACAAAACCATTCCAGGAGAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											122	113	116					3																	169578465		1911	4135	6046	171061159	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.371A>G	3.37:g.169578465T>C	ENSP00000325978:p.Asn124Ser		171061159	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.240780	0.58995	.	.	ENSG00000114248	ENST00000316428;ENST00000523069	T;T	0.58652	0.32;0.32	5.24	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.86420	2.815	0.32726	N	0.509631	D	0.89917	1.0	D	0.85130	0.997	T	0.77648	-0.2509	10	0.37606	T	0.19	-10.2284	8.9177	0.35592	0.0:0.1531:0.0:0.8469	.	124	Q6UY01	LRC31_HUMAN	S	124	ENSP00000325978:N124S;ENSP00000429145:N124S	ENSP00000325978:N124S	N	-	2	0	LRRC31	171061159	1.000000	0.71417	0.953000	0.39169	0.632000	0.37999	3.691000	0.54720	0.334000	0.23590	0.528000	0.53228	AAT		0.443	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		C	169578465	T	C	169578465	3	2	20	1	0	0	0	0	1	0	0	0	8986	1493	52	4	1315	4	LRRC31	3	169578465	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	56198489	169578465	28443965	18	1046											
DLG1	1739	broad.mit.edu	37	3	196792600	196792600	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr3:196792600T>C	ENST00000419354.1	-	22	2498	c.2212A>G	c.(2212-2214)Aaa>Gaa	p.K738E	DLG1_ENST00000422288.1_Missense_Mutation_p.K687E|DLG1_ENST00000448528.2_Missense_Mutation_p.K738E|DLG1_ENST00000357674.4_Missense_Mutation_p.K727E|DLG1_ENST00000443183.1_Missense_Mutation_p.K634E|DLG1_ENST00000346964.2_Missense_Mutation_p.K760E|DLG1_ENST00000314062.3_Missense_Mutation_p.K687E|DLG1_ENST00000452595.1_Missense_Mutation_p.K622E|DLG1_ENST00000450955.1_Missense_Mutation_p.K727E|DLG1_ENST00000392382.2_Missense_Mutation_p.K705E			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	738	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.K760E(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GATCCAAATTTGTCAGGAAAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	3											113	108	110					3																	196792600		2203	4297	6500	198276997	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2212A>G	3.37:g.196792600T>C	ENSP00000407531:p.Lys738Glu		198276997	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.809876	0.70797	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.43	5.43	0.79202	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.74647	2.275	0.80722	D	1	B;P;D;P;D	0.89917	0.45;0.538;0.999;0.68;1.0	B;B;D;P;D	0.72625	0.237;0.219;0.978;0.629;0.978	T	0.66372	-0.5940	10	0.51188	T	0.08	.	14.6597	0.68861	0.0:0.0:0.0:1.0	.	727;622;634;738;760	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	E	760;751;727;725;687;738;622;687;738;634;705;727	ENSP00000345731:K760E;ENSP00000350303:K727E;ENSP00000321087:K687E;ENSP00000407531:K738E;ENSP00000398939:K622E;ENSP00000413238:K687E;ENSP00000391732:K738E;ENSP00000396658:K634E;ENSP00000376187:K705E;ENSP00000411278:K727E	ENSP00000321087:K687E	K	-	1	0	DLG1	198276997	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	8.040000	0.89188	2.063000	0.61619	0.383000	0.25322	AAA		0.338	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		C	196792600	T	C	196792600	3	2	20	1	0	0	0	0	1	0	0	0	4554	1821	63	4	522	4	DLG1	3	196792600	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	27214135	196792600	1229830	19	1047											
IQGAP2	10788	broad.mit.edu	37	5	75866444	75866444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr5:75866444C>T	ENST00000274364.6	+	4	640	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	115	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.Q115*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATACCGTCCAGTGGTTAAG	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	5											174	163	167					5																	75866444		2203	4300	6503	75902200	SO:0001587	stop_gained	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.343C>T	5.37:g.75866444C>T	ENSP00000274364:p.Gln115*		75902200	A8K4V1|B7Z8A4|J3KR91	Nonsense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	38	7.072557	0.98044	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-20.9745	19.4372	0.94801	0.0:1.0:0.0:0.0	.	.	.	.	X	115;88;65	.	ENSP00000274364:Q115X	Q	+	1	0	IQGAP2	75902200	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.656000	0.83736	2.601000	0.87937	0.655000	0.94253	CAG		0.448	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		T	75866444	C	T	75866444	4	4	20	1	0	0	0	0	0	1	0	0	7815	595	21	2	357	2	IQGAP2	5	75866444	Nonsense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08		75866444	105048816	20	1048											
ADAM19	8728	broad.mit.edu	37	5	156932760	156932760	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr5:156932760G>T	ENST00000517905.1	-	11	1091	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q	ADAM19_ENST00000257527.4_Missense_Mutation_p.H349Q|ADAM19_ENST00000394020.1_Missense_Mutation_p.H351Q|ADAM19_ENST00000430702.2_Missense_Mutation_p.H82Q			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	349	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H350Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCAAAGTTGTGGCCCATCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	5											63	50	54					5																	156932760		2203	4300	6503	156865338	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1047C>A	5.37:g.156932760G>T	ENSP00000428654:p.His349Gln		156865338	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.	.	.	.	.	.	.	.	.	.	G	23.7	4.450665	0.84101	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;D;D;D	0.98666	1.63;-5.06;-5.06;-5.06	5.91	5.03	0.67393	.	0.000000	0.64402	D	0.000001	D	0.99102	0.9691	M	0.89287	3.02	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98810	1.0743	10	0.87932	D	0	.	11.4794	0.50316	0.1369:0.0:0.8631:0.0	.	349;82	Q9H013-2;E9PD32	.;.	Q	82;349;351;349	ENSP00000414088:H82Q;ENSP00000257527:H349Q;ENSP00000377588:H351Q;ENSP00000428654:H349Q	ENSP00000257527:H349Q	H	-	3	2	ADAM19	156865338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.962000	0.56766	2.793000	0.96121	0.655000	0.94253	CAC		0.577	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		T	156932760	G	T	156932760	3	4	20	1	0	0	0	0	1	0	0	0	240	1368	48	3	1761	3	ADAM19	5	156932760	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	81066316	156932760	23982500	21	1049											
TNXB	7148	broad.mit.edu	37	6	32047024	32047024	+	Silent	SNP	C	C	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr6:32047024C>T	ENST00000375244.3	-	11	4362	c.4161G>A	c.(4159-4161)tcG>tcA	p.S1387S	TNXB_ENST00000375247.2_Silent_p.S1387S|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1474	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.S1474S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGAGGCTCAGCGAATCAGGGG	0.682																																																1	Substitution - coding silent(1)	ovary(1)	6											98	109	105					6																	32047024		1253	2527	3780	32155002	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4161G>A	6.37:g.32047024C>T			32155002	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.682	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32047024	C	T	32047024	2	4	20	1	0	0	0	0	0	0	0	1	16346	755	27	1		1	TNXB	6	32047024	Silent	SNP	C	TCGA-04-1367-01A-01W-0492-08		32047024	139068043	22	1050											
B3GAT2	135152	broad.mit.edu	37	6	71571589	71571589	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr6:71571589G>C	ENST00000230053.6	-	3	1437	c.829C>G	c.(829-831)Ctc>Gtc	p.L277V	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	277					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.L277V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ATCTGTTTGAGAAAGTCAGAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	6											178	177	177					6																	71571589		2203	4300	6503	71628310	SO:0001583	missense	135152			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"Beta-1,3-glucuronyltransferases"	922	protein-coding gene	gene with protein product	"glucuronosyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.829C>G	6.37:g.71571589G>C	ENSP00000230053:p.Leu277Val		71628310	Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801662	0.70682	.	.	ENSG00000112309	ENST00000230053	T	0.58797	0.31	5.51	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.65554	0.2702	M	0.78285	2.405	0.80722	D	1	D;D	0.71674	0.998;0.99	D;D	0.76575	0.988;0.961	T	0.67799	-0.5577	10	0.39692	T	0.17	-8.0275	10.5683	0.45186	0.1482:0.0:0.8518:0.0	.	205;277	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	V	277	ENSP00000230053:L277V	ENSP00000230053:L277V	L	-	1	0	B3GAT2	71628310	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.586000	0.74067	1.322000	0.45245	0.650000	0.86243	CTC		0.433	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		C	71571589	G	C	71571589	3	2	20	1	0	0	0	0	1	0	0	0	1254	942	33	3	150	3	B3GAT2	6	71571589	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	39524565	71571589	99543478	23	1051											
SCRN1	9805	broad.mit.edu	37	7	29980316	29980316	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr7:29980316T>A	ENST00000426154.1	-	5	897	c.721A>T	c.(721-723)Agc>Tgc	p.S241C	SCRN1_ENST00000425819.2_Missense_Mutation_p.S173C|SCRN1_ENST00000409497.1_Missense_Mutation_p.S241C|SCRN1_ENST00000434476.2_Missense_Mutation_p.S261C|SCRN1_ENST00000242059.5_Missense_Mutation_p.S241C|SCRN1_ENST00000416113.2_Intron	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	241					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)	p.S241C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TTTTCTAAGCTGTCTTTGCCA	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											131	122	125					7																	29980316		2203	4300	6503	29946841	SO:0001583	missense	9805			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.721A>T	7.37:g.29980316T>A	ENSP00000409068:p.Ser241Cys		29946841	A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477627	0.44044	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000434476;ENST00000421434	T;T;T;T;T;T	0.19532	3.24;3.24;3.09;3.24;3.22;2.14	5.67	5.67	0.87782	.	0.272996	0.37261	N	0.002163	T	0.21674	0.0522	L	0.51422	1.61	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.003;0.005;0.003	T	0.03364	-1.1044	9	.	.	.	-10.5716	14.7167	0.69275	0.0:0.0:0.0:1.0	.	261;261;241	C9JPG0;B4DHM0;Q12765	.;.;SCRN1_HUMAN	C	241;241;173;45;241;261;241	ENSP00000242059:S241C;ENSP00000409068:S241C;ENSP00000414245:S173C;ENSP00000386872:S241C;ENSP00000388942:S261C;ENSP00000413184:S241C	.	S	-	1	0	SCRN1	29946841	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	3.001000	0.49488	2.159000	0.67721	0.482000	0.46254	AGC		0.473	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		A	29980316	T	A	29980316	3	1	20	1	0	0	0	0	1	0	0	0	13941	1580	55	5	539	5	SCRN1	7	29980316	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08		29980316	129158347	24	1052											
HERPUD2	64224	broad.mit.edu	37	7	35674832	35674832	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr7:35674832C>T	ENST00000396081.1	-	6	1658	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.R285Q	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	285					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R285Q(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AATCGCAGCTCGTGAGAACGT	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											184	165	172					7																	35674832		2203	4300	6503	35641357	SO:0001583	missense	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.854G>A	7.37:g.35674832C>T	ENSP00000379390:p.Arg285Gln		35641357	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743175	0.96873	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.20738	2.05;2.05	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24905	-1.0147	10	0.66056	D	0.02	-32.1447	20.422	0.99049	0.0:1.0:0.0:0.0	.	285	Q9BSE4	HERP2_HUMAN	Q	285	ENSP00000379390:R285Q;ENSP00000310729:R285Q	ENSP00000310729:R285Q	R	-	2	0	HERPUD2	35641357	1.000000	0.71417	0.566000	0.28421	0.991000	0.79684	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	CGA		0.418	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		T	35674832	C	T	35674832	3	4	20	1	0	0	0	0	1	0	0	0	7064	884	31	1	378	1	HERPUD2	7	35674832	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	5694516	35674832	123463831	25	1053											
MUC17	140453	broad.mit.edu	37	7	100683272	100683272	+	Missense_Mutation	SNP	G	G	A	rs373142874		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr7:100683272G>A	ENST00000306151.4	+	3	8639	c.8575G>A	c.(8575-8577)Gtg>Atg	p.V2859M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2859	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.V2859M(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGTATCGTCGTGCCAATCTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	7						A	MET/VAL	3,4403	825.9+/-416.6	0,3,2200	250	257	255		8575	-1.4	0	7		255	0,8600		0,0,4300	no	missense	MUC17	NM_001040105.1	21	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	2859/4494	100683272	3,13003	2203	4300	6503	100469992	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8575G>A	7.37:g.100683272G>A	ENSP00000302716:p.Val2859Met		100469992	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.762	-0.768961	0.02974	6.81E-4	0.0	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.673	-1.35	0.09114	.	.	.	.	.	T	0.01189	0.0039	N	0.02539	-0.55	0.09310	N	1	D	0.64830	0.994	B	0.41764	0.366	T	0.43956	-0.9359	9	0.30078	T	0.28	.	3.8288	0.08865	0.4477:0.0:0.3822:0.1701	.	2859	Q685J3	MUC17_HUMAN	M	2859	ENSP00000302716:V2859M	ENSP00000302716:V2859M	V	+	1	0	MUC17	100469992	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.513000	0.00446	-4.167000	0.00068	-3.222000	0.00052	GTG		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100683272	G	A	100683272	3	1	20	1	0	0	0	0	1	0	0	0	9974	1145	40	1	8585	1	MUC17	7	100683272	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	65008440	100683272	58455391	26	1054											
CUX1	1523	broad.mit.edu	37	7	101559405	101559405	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr7:101559405A>T	ENST00000292535.7	+	2	79	c.41A>T	c.(40-42)gAt>gTt	p.D14V	CUX1_ENST00000556210.1_Missense_Mutation_p.D14V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Missense_Mutation_p.D14V|CUX1_ENST00000437600.4_Missense_Mutation_p.D25V|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Missense_Mutation_p.D25V|CUX1_ENST00000546411.2_Missense_Mutation_p.D14V|CUX1_ENST00000425244.2_Missense_Mutation_p.D25V|CUX1_ENST00000547394.2_Missense_Mutation_p.D25V|CUX1_ENST00000549414.2_Missense_Mutation_p.D14V|CUX1_ENST00000360264.3_Missense_Mutation_p.D25V	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	14					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.D25V(1)|p.D14V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAGAACTCGATGCCACCGCA	0.502																																																2	Substitution - Missense(2)	ovary(2)	7											154	149	151					7																	101559405		2203	4300	6503	101346125	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.41A>T	7.37:g.101559405A>T	ENSP00000292535:p.Asp14Val		101346125	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193367	0.78902	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.59638	1.4;0.25;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.73377	0.3579	M	0.64404	1.975	0.80722	D	1	P;D;D;D;D;D	0.89917	0.954;0.999;1.0;0.993;0.999;0.99	P;D;D;D;P;P	0.87578	0.637;0.996;0.998;0.955;0.897;0.901	T	0.76231	-0.3035	10	0.87932	D	0	-15.4583	14.5506	0.68065	1.0:0.0:0.0:0.0	.	14;25;25;25;25;25	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	V	25;25;25;25;25;25;14;14;14;14;14	ENSP00000292538:D25V;ENSP00000449371:D25V;ENSP00000353401:D25V;ENSP00000409745:D25V;ENSP00000414091:D25V;ENSP00000292535:D14V;ENSP00000446630:D14V;ENSP00000447373:D14V;ENSP00000450125:D14V;ENSP00000451558:D14V	ENSP00000292535:D14V	D	+	2	0	CUX1	101346125	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.294000	0.89934	2.169000	0.68431	0.533000	0.62120	GAT		0.502	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		T	101559405	A	T	101559405	3	4	20	1	0	0	0	0	1	0	0	0	4064	333	12	5	114	5	CUX1	7	101559405	Missense_Mutation	SNP	A	TCGA-04-1367-01A-01W-0492-08	876133	101559405	57579258	27	1055											
CDHR3	222256	broad.mit.edu	37	7	105655652	105655652	+	Nonsense_Mutation	SNP	C	C	G			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr7:105655652C>G	ENST00000317716.9	+	10	1400	c.1320C>G	c.(1318-1320)taC>taG	p.Y440*	CDHR3_ENST00000478080.1_Nonsense_Mutation_p.Y352*|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Nonsense_Mutation_p.Y440*|CDHR3_ENST00000343407.5_Nonsense_Mutation_p.Y157*	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y440*(1)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCCCCCCTTACTATAAAAGCA	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	7											55	51	52					7																	105655652		1859	4092	5951	105442888	SO:0001587	stop_gained	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1320C>G	7.37:g.105655652C>G	ENSP00000325954:p.Tyr440*		105442888	Q8TCI7	Nonsense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537371	0.96460	.	.	ENSG00000128536	ENST00000542731;ENST00000343407;ENST00000317716;ENST00000478080;ENST00000466045	.	.	.	5.73	1.86	0.25419	.	0.486593	0.20594	N	0.089285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7307	6.1725	0.20424	0.12:0.6179:0.0:0.2621	.	.	.	.	X	440;157;440;352;198	.	ENSP00000325954:Y440X	Y	+	3	2	CDHR3	105442888	0.999000	0.42202	0.982000	0.44146	0.502000	0.33828	0.484000	0.22308	0.350000	0.24002	0.655000	0.94253	TAC		0.418	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		G	105655652	C	G	105655652	4	3	20	1	0	0	0	0	0	1	0	0	3120	576	20	3	1358	3	CDHR3	7	105655652	Nonsense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	4096247	105655652	53483011	28	1056											
NRCAM	4897	broad.mit.edu	37	7	107824978	107824978	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr7:107824978T>C	ENST00000425651.2	-	18	2115	c.2116A>G	c.(2116-2118)Aca>Gca	p.T706A	NRCAM_ENST00000379028.3_Missense_Mutation_p.T706A|NRCAM_ENST00000379024.4_Missense_Mutation_p.T687A|NRCAM_ENST00000379022.4_Missense_Mutation_p.T706A|NRCAM_ENST00000351718.4_Missense_Mutation_p.T690A|NRCAM_ENST00000413765.2_Missense_Mutation_p.T687A	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	706	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.T690A(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCTGGGCTGTGGTCTGTGTT	0.522																																																1	Substitution - Missense(1)	ovary(1)	7											96	91	93					7																	107824978		2203	4300	6503	107612214	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2116A>G	7.37:g.107824978T>C	ENSP00000401244:p.Thr706Ala		107612214	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313535	0.60414	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.28	4.12	0.48240	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.55213	1.73	0.80722	D	1	B;B;B;B;B	0.22800	0.007;0.075;0.008;0.007;0.005	B;B;B;B;B	0.29176	0.028;0.099;0.062;0.037;0.022	T	0.25187	-1.0139	10	0.12430	T	0.62	.	11.1957	0.48711	0.0:0.0726:0.0:0.9274	.	706;687;687;690;706	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	A	706;706;687;706;690;687;706;706;690	ENSP00000368314:T706A;ENSP00000407858:T687A;ENSP00000325269:T690A;ENSP00000368310:T687A;ENSP00000401244:T706A;ENSP00000368308:T706A	ENSP00000325269:T690A	T	-	1	0	NRCAM	107612214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.967000	0.70403	0.823000	0.34589	0.482000	0.46254	ACA		0.522	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		C	107824978	T	C	107824978	3	2	20	1	0	0	0	0	1	0	0	0	10644	1696	59	4	1880	4	NRCAM	7	107824978	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	2169326	107824978	51313685	29	1057											
RP1	6101	broad.mit.edu	37	8	55541830	55541830	+	Silent	SNP	G	G	T	rs183370413		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr8:55541830G>T	ENST00000220676.1	+	4	5536	c.5388G>T	c.(5386-5388)acG>acT	p.T1796T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1796					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T1796T(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGGCCCAACGATGGATGAAC	0.448																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - coding silent(1)	ovary(1)	8											76	73	74					8																	55541830		2203	4300	6503	55704383	SO:0001819	synonymous_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5388G>T	8.37:g.55541830G>T			55704383		Silent	SNP	ENST00000220676.1	37	CCDS6160.1																																																																																				0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55541830	G	T	55541830	2	4	20	1	0	0	0	0	0	0	0	1	13535	1045	37	3		3	RP1	8	55541830	Silent	SNP	G	TCGA-04-1367-01A-01W-0492-08		55541830	90822192	30	1058											
MYBL1	4603	broad.mit.edu	37	8	67477044	67477044	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr8:67477044T>C	ENST00000522677.3	-	16	2557	c.2147A>G	c.(2146-2148)gAa>gGa	p.E716G	MYBL1_ENST00000522419.1_5'Flank|MYBL1_ENST00000517885.1_Missense_Mutation_p.E374G|MYBL1_ENST00000524176.2_Missense_Mutation_p.E656G	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	716					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)	p.E716G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AACCACTGTTTCCCATTCACA	0.318																																																1	Substitution - Missense(1)	ovary(1)	8											102	94	96					8																	67477044		1851	4079	5930	67639598	SO:0001583	missense	4603			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.2147A>G	8.37:g.67477044T>C	ENSP00000429633:p.Glu716Gly		67639598	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170869	0.57584	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.21543	2.53;2.08;2.0	5.3	5.3	0.74995	.	0.052101	0.85682	D	0.000000	T	0.45357	0.1338	M	0.73217	2.22	0.45867	D	0.998728	D;D;D	0.89917	0.988;0.988;1.0	P;P;D	0.69142	0.761;0.761;0.962	T	0.44757	-0.9307	10	0.62326	D	0.03	-18.9445	15.2779	0.73756	0.0:0.0:0.0:1.0	.	656;655;716	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	G	716;374;656	ENSP00000429633:E716G;ENSP00000428265:E374G;ENSP00000428011:E656G	ENSP00000428265:E374G	E	-	2	0	MYBL1	67639598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.306000	0.78905	2.000000	0.58554	0.533000	0.62120	GAA		0.318	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		C	67477044	T	C	67477044	3	2	20	1	0	0	0	0	1	0	0	0	10009	1783	62	4	115	4	MYBL1	8	67477044	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	11935214	67477044	78886978	31	1059											
FAM83A	84985	broad.mit.edu	37	8	124195422	124195422	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr8:124195422C>T	ENST00000518448.1	+	2	2340	c.326C>T	c.(325-327)gCc>gTc	p.A109V	FAM83A_ENST00000546351.1_Missense_Mutation_p.A109V|FAM83A_ENST00000318462.6_Missense_Mutation_p.A109V|FAM83A_ENST00000536633.1_Missense_Mutation_p.A109V|RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000276699.6_Missense_Mutation_p.A109V|FAM83A_ENST00000522648.1_Missense_Mutation_p.A109V|U3_ENST00000408534.1_RNA			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	109								p.A109V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCCTGTGGCCTCAGAGGGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	8											60	63	62					8																	124195422		2203	4300	6503	124264603	SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.326C>T	8.37:g.124195422C>T	ENSP00000428876:p.Ala109Val		124264603	Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	C	7.306	0.614075	0.14066	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.11712	2.75;2.93;2.75;2.75;2.93;2.75	5.46	3.17	0.36434	.	1.028510	0.07646	N	0.931163	T	0.07503	0.0189	L	0.32530	0.975	0.18873	N	0.999986	B;B;B	0.18461	0.01;0.023;0.028	B;B;B	0.15052	0.007;0.012;0.012	T	0.40421	-0.9564	10	0.16420	T	0.52	-20.8259	3.0737	0.06239	0.482:0.3597:0.0:0.1583	.	109;109;109	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	V	109	ENSP00000428876:A109V;ENSP00000440565:A109V;ENSP00000445218:A109V;ENSP00000323034:A109V;ENSP00000427979:A109V;ENSP00000276699:A109V	ENSP00000276699:A109V	A	+	2	0	FAM83A	124264603	0.991000	0.36638	0.910000	0.35882	0.292000	0.27327	2.276000	0.43408	2.548000	0.85928	0.561000	0.74099	GCC		0.647	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		T	124195422	C	T	124195422	3	4	20	1	0	0	0	0	1	0	0	0	5633	739	26	2	328	2	FAM83A	8	124195422	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	56718378	124195422	22168600	32	1060											
FER1L6	654463	broad.mit.edu	37	8	125107259	125107259	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr8:125107259G>T	ENST00000522917.1	+	35	4881	c.4675G>T	c.(4675-4677)Gat>Tat	p.D1559Y	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D1559Y	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1559						integral component of membrane (GO:0016021)		p.D1559Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTACCACAAGGATAAGCCAGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	8											83	76	78					8																	125107259		1919	4147	6066	125176440	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4675G>T	8.37:g.125107259G>T	ENSP00000428280:p.Asp1559Tyr		125176440		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210887	0.79240	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86030	-2.06;-2.06	5.52	4.64	0.57946	.	0.183179	0.44902	U	0.000420	D	0.90438	0.7006	M	0.74258	2.255	0.58432	D	0.999997	D	0.89917	1.0	D	0.72982	0.979	D	0.88311	0.2956	10	0.14252	T	0.57	-24.3396	14.3995	0.67034	0.0709:0.0:0.9291:0.0	.	1559	Q2WGJ9	FR1L6_HUMAN	Y	1559	ENSP00000428280:D1559Y;ENSP00000381982:D1559Y	ENSP00000381982:D1559Y	D	+	1	0	FER1L6	125176440	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.752000	0.68728	1.470000	0.48102	0.551000	0.68910	GAT		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	125107259	G	T	125107259	3	4	20	1	0	0	0	0	1	0	0	0	5815	1174	41	3	4809	3	FER1L6	8	125107259	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	911837	125107259	21256763	33	1061											
SECISBP2	79048	broad.mit.edu	37	9	91940489	91940489	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr9:91940489G>C	ENST00000375807.3	+	3	401	c.330G>C	c.(328-330)caG>caC	p.Q110H	SECISBP2_ENST00000534113.2_Missense_Mutation_p.Q42H|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Missense_Mutation_p.Q37H	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	110					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.Q110H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CTGGCTCCCAGTATCTTTATA	0.418																																																1	Substitution - Missense(1)	ovary(1)	9											214	203	207					9																	91940489		2203	4300	6503	91130309	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.330G>C	9.37:g.91940489G>C	ENSP00000364965:p.Gln110His		91130309	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	2.590	-0.295382	0.05532	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.77877	-1.09;-1.13;-1.07	4.17	-2.73	0.05950	.	1.082170	0.07022	N	0.827008	T	0.61788	0.2375	L	0.29908	0.895	0.09310	N	0.99999	B;B;B;B;B	0.13594	0.008;0.0;0.003;0.002;0.001	B;B;B;B;B	0.11329	0.006;0.001;0.004;0.003;0.003	T	0.45775	-0.9238	10	0.49607	T	0.09	-0.2068	3.2655	0.06864	0.1521:0.3807:0.3369:0.1303	.	130;110;37;110;42	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	H	110;130;37;42	ENSP00000364965:Q110H;ENSP00000364959:Q37H;ENSP00000436650:Q42H	ENSP00000364959:Q37H	Q	+	3	2	SECISBP2	91130309	0.000000	0.05858	0.008000	0.14137	0.056000	0.15407	0.145000	0.16157	-0.715000	0.04968	-1.373000	0.01185	CAG		0.418	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		C	91940489	G	C	91940489	3	2	20	1	0	0	0	0	1	0	0	0	14009	1020	36	3	340	3	SECISBP2	9	91940489	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08		91940489	49272942	34	1062											
IKBKAP	8518	broad.mit.edu	37	9	111670665	111670665	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr9:111670665G>T	ENST00000374647.5	-	13	1687	c.1380C>A	c.(1378-1380)gaC>gaA	p.D460E	IKBKAP_ENST00000537196.1_Missense_Mutation_p.D111E	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	460					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.D460E(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCACTGTAGGGTCAGCACTTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	9											66	66	66					9																	111670665		2203	4300	6503	110710486	SO:0001583	missense	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1380C>A	9.37:g.111670665G>T	ENSP00000363779:p.Asp460Glu		110710486	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098246	0.56183	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.25749	1.78;1.78	5.56	2.28	0.28536	.	0.462954	0.25277	N	0.031825	T	0.41396	0.1157	M	0.76838	2.35	0.25592	N	0.986686	D	0.76494	0.999	D	0.72075	0.976	T	0.32981	-0.9886	10	0.11182	T	0.66	-18.4579	6.4128	0.21700	0.4534:0.0:0.5466:0.0	.	460	O95163	ELP1_HUMAN	E	460;111	ENSP00000363779:D460E;ENSP00000439367:D111E	ENSP00000363779:D460E	D	-	3	2	IKBKAP	110710486	1.000000	0.71417	0.571000	0.28486	0.685000	0.39939	0.558000	0.23469	0.492000	0.27815	0.655000	0.94253	GAC		0.368	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			T	111670665	G	T	111670665	3	4	20	1	0	0	0	0	1	0	0	0	7610	1252	44	3	2718	3	IKBKAP	9	111670665	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	19730176	111670665	29542766	35	1063											
FKBP15	23307	broad.mit.edu	37	9	115950085	115950085	+	Silent	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr9:115950085G>C	ENST00000238256.3	-	14	1488	c.1371C>G	c.(1369-1371)gcC>gcG	p.A457A		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	457					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.A482A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAAAGGATTGGGCATTTCCAG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	9											74	72	72					9																	115950085		1928	4122	6050	114989906	SO:0001819	synonymous_variant	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1371C>G	9.37:g.115950085G>C			114989906	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	CCDS48007.1																																																																																				0.418	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		C	115950085	G	C	115950085	2	2	20	1	0	0	0	0	0	0	0	1	5905	1219	43	3		3	FKBP15	9	115950085	Silent	SNP	G	TCGA-04-1367-01A-01W-0492-08	4279420	115950085	25263346	36	1064											
ARHGAP21	57584	broad.mit.edu	37	10	24884683	24884683	+	Silent	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr10:24884683G>C	ENST00000396432.2	-	19	4161	c.3675C>G	c.(3673-3675)tcC>tcG	p.S1225S	ARHGAP21_ENST00000320481.6_Silent_p.S1012S|ARHGAP21_ENST00000493154.1_5'Flank	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1224	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.S1224S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCTGAAGAAGGATTTTAGTA	0.368																																																1	Substitution - coding silent(1)	ovary(1)	10											65	64	65					10																	24884683		2203	4300	6503	24924689	SO:0001819	synonymous_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3675C>G	10.37:g.24884683G>C			24924689	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	8.760	0.923449	0.18056	.	.	ENSG00000107863	ENST00000418033	.	.	.	5.27	-1.59	0.08453	.	.	.	.	.	T	0.42675	0.1213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31586	-0.9938	4	.	.	.	.	3.5055	0.07689	0.1283:0.1038:0.4253:0.3426	.	.	.	.	V	39	.	.	L	-	1	0	ARHGAP21	24924689	0.995000	0.38212	0.998000	0.56505	0.991000	0.79684	0.253000	0.18296	0.029000	0.15352	-0.122000	0.15005	CTT		0.368	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		C	24884683	G	C	24884683	2	2	20	1	0	0	0	0	0	0	0	1	871	987	35	3		3	ARHGAP21	10	24884683	Silent	SNP	G	TCGA-04-1367-01A-01W-0492-08		24884683	110650064	37	1065											
CCDC6	8030	broad.mit.edu	37	10	61574446	61574446	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr10:61574446A>G	ENST00000263102.6	-	4	881	c.650T>C	c.(649-651)cTc>cCc	p.L217P		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	217	5 X 29 AA tandem repeats.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)	p.L217P(1)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCTTTTCCAGAGGCGATTAAC	0.428			T	RET	NSCLC																																		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	1	Substitution - Missense(1)	ovary(1)	10											349	251	284					10																	61574446		2203	4300	6503	61244452	SO:0001583	missense	8030			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.650T>C	10.37:g.61574446A>G	ENSP00000263102:p.Leu217Pro		61244452	Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810914	0.90707	.	.	ENSG00000108091	ENST00000263102	D	0.81579	-1.51	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	M	0.81614	2.55	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.91348	0.5102	10	0.87932	D	0	-12.6367	16.1937	0.82011	1.0:0.0:0.0:0.0	.	217	Q16204	CCDC6_HUMAN	P	217	ENSP00000263102:L217P	ENSP00000263102:L217P	L	-	2	0	CCDC6	61244452	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.932000	0.92897	2.220000	0.72140	0.533000	0.62120	CTC		0.428	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		G	61574446	A	G	61574446	3	3	20	1	0	0	0	0	1	0	0	0	2830	304	11	4	798	4	CCDC6	10	61574446	Missense_Mutation	SNP	A	TCGA-04-1367-01A-01W-0492-08	36689763	61574446	73960301	38	1066											
CDK1	983	broad.mit.edu	37	10	62545444	62545444	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr10:62545444G>C	ENST00000395284.3	+	4	359	c.217G>C	c.(217-219)Gat>Cat	p.D73H	CDK1_ENST00000373809.2_Missense_Mutation_p.D73H|CDK1_ENST00000316629.4_Missense_Mutation_p.D73H|CDK1_ENST00000448257.2_Missense_Mutation_p.D73H	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.D73H(2)		ovary(1)	1						GCTTATGCAGGATTCCAGGTT	0.368																																																2	Substitution - Missense(2)	ovary(2)	10											208	216	213					10																	62545444		2203	4300	6503	62215450	SO:0001583	missense	0			BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"Cyclin-dependent kinases"	1722	protein-coding gene	gene with protein product		116940	"cell division cycle 2, G1 to S and G2 to M"	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.217G>C	10.37:g.62545444G>C	ENSP00000378699:p.Asp73His		62215450	A8K7C4|C9J497|O60764	Missense_Mutation	SNP	ENST00000395284.3	37	CCDS44408.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638807	0.67130	.	.	ENSG00000170312	ENST00000519078;ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.04	6.04	0.98038	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.085303	0.85682	D	0.000000	T	0.74642	0.3743	L	0.58428	1.81	0.58432	D	0.999993	D;P;P;P	0.58970	0.984;0.831;0.86;0.86	P;P;P;P	0.57009	0.778;0.712;0.811;0.811	T	0.75107	-0.3434	10	0.87932	D	0	-16.0166	20.5948	0.99439	0.0:0.0:1.0:0.0	.	73;73;75;73	B7Z3D6;P06493-2;Q5H9N4;P06493	.;.;.;CDK1_HUMAN	H	73	ENSP00000378699:D73H;ENSP00000325970:D73H;ENSP00000397973:D73H;ENSP00000362915:D73H	ENSP00000325970:D73H	D	+	1	0	CDK1	62215450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.018000	0.88722	2.873000	0.98535	0.563000	0.77884	GAT		0.368	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786		C	62545444	G	C	62545444	3	2	20	1	0	0	0	0	1	0	0	0	3124	1174	41	3	227	3	CDK1	10	62545444	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	970998	62545444	72989303	39	1067											
SUPV3L1	6832	broad.mit.edu	37	10	70951411	70951411	+	Splice_Site	SNP	G	G	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr10:70951411G>T	ENST00000359655.4	+	6	802	c.742G>T	c.(742-744)Ggt>Tgt	p.G248C	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	248	Helicase ATP-binding.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.G248C(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTTTCTAGGGTGTGCCATG	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											157	139	145					10																	70951411		2203	4300	6503	70621417	SO:0001630	splice_region_variant	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.742-1G>T	10.37:g.70951411G>T			70621417	A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287298	0.80803	.	.	ENSG00000156502	ENST00000359655	T	0.19250	2.16	5.66	5.66	0.87406	.	0.102292	0.64402	D	0.000003	T	0.61489	0.2351	H	0.98351	4.21	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.74275	-0.3718	9	.	.	.	0.0399	10.7998	0.46483	0.1148:0.0:0.8852:0.0	.	248	Q8IYB8	SUV3_HUMAN	C	248	ENSP00000352678:G248C	.	G	+	1	0	SUPV3L1	70621417	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.728000	0.84847	2.670000	0.90874	0.591000	0.81541	GGT		0.393	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171	Missense_Mutation	T	70951411	G	T	70951411	5	4	20	1	0	0	0	0	0	0	1	0	15402	1246	43	3	764	3	SUPV3L1	10	70951411	Splice_Site	SNP	G	TCGA-04-1367-01A-01W-0492-08	8405967	70951411	64583336	40	1068											
PRF1	5551	broad.mit.edu	37	10	72357809	72357809	+	Nonstop_Mutation	SNP	T	T	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr10:72357809T>A	ENST00000441259.1	-	3	1828	c.1668A>T	c.(1666-1668)tgA>tgT	p.*556C	PRF1_ENST00000373209.2_Nonstop_Mutation_p.*556C	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	0					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.*556C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCACTGTTCTCACCACACGG	0.587			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	1	Nonstop extension(1)	ovary(1)	10											51	53	52					10																	72357809		2203	4300	6503	72027815	SO:0001578	stop_lost	5551	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1668A>T	10.37:g.72357809T>A			72027815	B2R6X4|Q59F57|Q86WX7	Nonstop_Mutation	SNP	ENST00000441259.1	37	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	T	6.759	0.508972	0.12883	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	.	.	.	5.97	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7196	0.34432	0.0:0.085:0.0:0.915	.	.	.	.	C	556	.	.	X	-	3	0	PRF1	72027815	0.012000	0.17670	0.213000	0.23690	0.142000	0.21351	1.563000	0.36364	1.091000	0.41335	0.533000	0.62120	TGA		0.587	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		A	72357809	T	A	72357809	4	1	20	1	0	0	0	0	0	0	0	0	12481	1564	54	5	3	5	PRF1	10	72357809	Nonstop_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	1406398	72357809	63176938	41	1069											
SYNPO2L	79933	broad.mit.edu	37	10	75407108	75407108	+	Missense_Mutation	SNP	G	G	C	rs371474010		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr10:75407108G>C	ENST00000394810.2	-	4	2451	c.2302C>G	c.(2302-2304)Cgt>Ggt	p.R768G	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R544G	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	768	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R544G(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CTGTCCGCACGGCTCTGCCGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	10											90	98	95					10																	75407108		2203	4300	6503	75077114	SO:0001583	missense	79933			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2302C>G	10.37:g.75407108G>C	ENSP00000378289:p.Arg768Gly		75077114	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142810	0.57044	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.56103	0.48;0.7	4.72	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.80183	2.485	0.48341	D	0.999639	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75227	-0.3392	10	0.51188	T	0.08	-8.5017	14.3387	0.66608	0.0:0.0:0.8515:0.1485	.	768;544	Q9H987;Q9H987-2	SYP2L_HUMAN;.	G	544;768	ENSP00000361964:R544G;ENSP00000378289:R768G	ENSP00000361964:R544G	R	-	1	0	SYNPO2L	75077114	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.030000	0.49720	2.443000	0.82685	0.313000	0.20887	CGT		0.617	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		C	75407108	G	C	75407108	3	2	20	1	0	0	0	0	1	0	0	0	15458	1116	39	3	635	3	SYNPO2L	10	75407108	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	3049299	75407108	60127639	42	1070											
ZNF503	84858	broad.mit.edu	37	10	77158576	77158576	+	Silent	SNP	T	T	G			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr10:77158576T>G	ENST00000372524.4	-	2	2358	c.1872A>C	c.(1870-1872)ggA>ggC	p.G624G	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.G624G|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	624					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G624G(1)		lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					AGTAGTACGGTCCGGTGGCGG	0.726																																																1	Substitution - coding silent(1)	ovary(1)	10											10	11	11					10																	77158576		2191	4268	6459	76828582	SO:0001819	synonymous_variant	84858			AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1872A>C	10.37:g.77158576T>G			76828582	Q8NAC5|Q96E25|Q96IJ0	Silent	SNP	ENST00000372524.4	37	CCDS7350.1																																																																																				0.726	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		G	77158576	T	G	77158576	2	3	20	1	0	0	0	0	0	0	0	1	17951	1654	58	5		5	ZNF503	10	77158576	Silent	SNP	T	TCGA-04-1367-01A-01W-0492-08	1751468	77158576	58376171	43	1071											
COX15	1355	broad.mit.edu	37	10	101487250	101487250	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr10:101487250C>T	ENST00000016171.5	-	3	393	c.343G>A	c.(343-345)Gag>Aag	p.E115K	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.E115K			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	115					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.E115K(1)		endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TCCCATTCCTCTTGGCTTGTA	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											198	195	196					10																	101487250		2203	4300	6503	101477240	SO:0001583	missense	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.343G>A	10.37:g.101487250C>T	ENSP00000016171:p.Glu115Lys		101477240	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071313	0.55646	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.83250	-1.7;-1.7	4.49	3.56	0.40772	Peptidase cysteine/serine, trypsin-like (1);	0.227915	0.42964	D	0.000629	T	0.79015	0.4375	L	0.51422	1.61	0.46356	D	0.999	B;B	0.15719	0.014;0.002	B;B	0.22152	0.037;0.038	T	0.75116	-0.3431	10	0.39692	T	0.17	-9.5272	14.0275	0.64594	0.0:0.6396:0.3604:0.0	.	115;115	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	K	115	ENSP00000359514:E115K;ENSP00000016171:E115K	ENSP00000016171:E115K	E	-	1	0	COX15	101477240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.500000	0.60387	1.219000	0.43474	0.563000	0.77884	GAG		0.393	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		T	101487250	C	T	101487250	3	4	20	1	0	0	0	0	1	0	0	0	3764	922	32	2	987	2	COX15	10	101487250	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	24328674	101487250	34047497	44	1072											
INSC	387755	broad.mit.edu	37	11	15134029	15134029	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr11:15134029C>T	ENST00000379554.3	+	1	60	c.14C>T	c.(13-15)cCt>cTt	p.P5L	INSC_ENST00000379556.3_5'Flank|INSC_ENST00000424273.1_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	5					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.P5L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGACGGCCCCCTGGCAATGGA	0.622																																																1	Substitution - Missense(1)	ovary(1)	11											49	60	57					11																	15134029		1950	4124	6074	15090605	SO:0001583	missense	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.14C>T	11.37:g.15134029C>T	ENSP00000368872:p.Pro5Leu		15090605	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369799	0.24771	.	.	ENSG00000188487	ENST00000379554	T	0.36157	1.27	4.07	1.2	0.21068	.	.	.	.	.	T	0.17916	0.0430	N	0.08118	0	0.25451	N	0.988001	B	0.02656	0.0	B	0.06405	0.002	T	0.20438	-1.0275	9	0.87932	D	0	-0.4928	5.9383	0.19179	0.0:0.6721:0.0:0.3279	.	5	Q1MX18	INSC_HUMAN	L	5	ENSP00000368872:P5L	ENSP00000368872:P5L	P	+	2	0	INSC	15090605	0.373000	0.25073	0.268000	0.24571	0.051000	0.14879	1.663000	0.37429	0.287000	0.22375	0.561000	0.74099	CCT		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		T	15134029	C	T	15134029	3	4	20	1	0	0	0	0	1	0	0	0	7764	681	24	2	16	2	INSC	11	15134029	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08		15134029	119872487	45	1073											
SDHAF2	54949	broad.mit.edu	37	11	61205108	61205108	+	Silent	SNP	G	G	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr11:61205108G>T	ENST00000543265.1	+	2	51	c.48G>T	c.(46-48)ctG>ctT	p.L16L	SDHAF2_ENST00000301761.2_Silent_p.L16L|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000537782.1_Silent_p.L16L|RP11-286N22.8_ENST00000543044.1_Silent_p.L4L|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Silent_p.L16L					succinate dehydrogenase complex assembly factor 2									p.L16L(1)		large_intestine(3)|lung(4)|ovary(2)	9						TGCTTGCTCTGTCAAGGCACA	0.413																																																1	Substitution - coding silent(1)	ovary(1)	11											184	181	182					11																	61205108		2202	4299	6501	60961684	SO:0001819	synonymous_variant	54949			AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"Mitochondrial respiratory chain complex assembly factors"	26034	protein-coding gene	gene with protein product		613019	"paraganglioma or familial glomus tumors 2", "chromosome 11 open reading frame 79"	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000543265.1:c.48G>T	11.37:g.61205108G>T			60961684		Silent	SNP	ENST00000543265.1	37																																																																																					0.413	SDHAF2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000398484.1	NM_017841		T	61205108	G	T	61205108	2	4	20	1	0	0	0	0	0	0	0	1	13967	1364	48	3		3	SDHAF2	11	61205108	Silent	SNP	G	TCGA-04-1367-01A-01W-0492-08	46071079	61205108	73801408	46	1074											
HEPHL1	341208	broad.mit.edu	37	11	93819323	93819330	+	Frame_Shift_Del	DEL	CCACAACA	CCACAACA	-			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	CCACAACA	CCACAACA	-	-	CCACAACA	CCACAACA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr11:93819323_93819330delCCACAACA	ENST00000315765.9	+	11	2056_2063	c.2048_2055delCCACAACA	c.(2047-2055)gccacaacafs	p.ATT683fs		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	683	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.A687fs*12(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCCCACATGGCCACAACAGCATTCATGC	0.519																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								93458978	SO:0001589	frameshift_variant	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2048_2055delCCACAACA	11.37:g.93819323_93819330delCCACAACA	ENSP00000313699:p.Ala683fs		93458971	Q3C1W7	Frame_Shift_Del	DEL	ENST00000315765.9	37	CCDS44710.1																																																																																				0.519	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		-	93819330	CCACAACA	-	93819323	7	5	20	1	0	1	0	1	0	0	0	0	7055	739	26	0	2090	0	HEPHL1	11	93819323	Frame_Shift_Del	DEL	CCACAACA	TCGA-04-1367-01A-01W-0492-08	32614215	93819323	41187193	47	1075											
KIRREL3	84623	broad.mit.edu	37	11	126316769	126316769	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr11:126316769A>T	ENST00000525144.2	-	9	1259	c.1010T>A	c.(1009-1011)aTg>aAg	p.M337K	KIRREL3_ENST00000529097.2_Missense_Mutation_p.M337K|KIRREL3_ENST00000525704.2_Missense_Mutation_p.M337K	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	337	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M296K(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTCTGTGGTCATCCGGGGCCC	0.592																																																1	Substitution - Missense(1)	ovary(1)	11											37	41	40					11																	126316769		2086	4193	6279	125821979	SO:0001583	missense	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1010T>A	11.37:g.126316769A>T	ENSP00000435466:p.Met337Lys		125821979	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.885198	0.72410	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.67698	-0.28;-0.28;-0.28	4.73	4.73	0.59995	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.094278	0.64402	D	0.000001	T	0.63792	0.2541	L	0.43152	1.355	0.80722	D	1	P;B;B	0.51933	0.949;0.369;0.409	P;B;B	0.45881	0.496;0.222;0.216	T	0.69320	-0.5176	10	0.87932	D	0	.	13.8687	0.63605	1.0:0.0:0.0:0.0	.	337;337;337	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	K	337	ENSP00000435466:M337K;ENSP00000434081:M337K;ENSP00000435094:M337K	ENSP00000435466:M337K	M	-	2	0	KIRREL3	125821979	1.000000	0.71417	0.853000	0.33588	0.791000	0.44710	9.297000	0.96120	1.753000	0.51906	0.247000	0.18012	ATG		0.592	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		T	126316769	A	T	126316769	3	4	20	1	0	0	0	0	1	0	0	0	8326	217	8	5	1469	5	KIRREL3	11	126316769	Missense_Mutation	SNP	A	TCGA-04-1367-01A-01W-0492-08	32497446	126316769	8689747	48	1076											
TAS2R50	259296	broad.mit.edu	37	12	11139426	11139426	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr12:11139426G>C	ENST00000506868.1	-	1	85	c.34C>G	c.(34-36)Cta>Gta	p.L12V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	12					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.L12V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ACCATTATTAGAATTGAAAAA	0.318																																																1	Substitution - Missense(1)	ovary(1)	12											31	37	35					12																	11139426		2181	4285	6466	11030693	SO:0001583	missense	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.34C>G	12.37:g.11139426G>C	ENSP00000424040:p.Leu12Val		11030693	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	1.746	-0.490519	0.04322	.	.	ENSG00000212126	ENST00000506868	T	0.00669	5.9	2.49	0.271	0.15640	.	1.413770	0.06301	U	0.700907	T	0.01061	0.0035	L	0.55990	1.75	0.09310	N	1	B	0.30889	0.299	B	0.34824	0.19	T	0.47935	-0.9078	10	0.27082	T	0.32	.	2.3661	0.04319	0.3018:0.0:0.4596:0.2387	.	12	P59544	T2R50_HUMAN	V	12	ENSP00000424040:L12V	ENSP00000424040:L12V	L	-	1	2	TAS2R50	11030693	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-2.268000	0.01169	0.251000	0.21505	0.313000	0.20887	CTA		0.318	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		C	11139426	G	C	11139426	3	2	20	1	0	0	0	0	1	0	0	0	15584	933	33	3	869	3	TAS2R50	12	11139426	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08		11139426	122712469	49	1077											
KRT82	3888	broad.mit.edu	37	12	52797542	52797554	+	Frame_Shift_Del	DEL	ACGCGGTCCCCGG	ACGCGGTCCCCGG	-	rs144174481|rs148502413|rs113026141|rs200534923	byFrequency	TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	ACGCGGTCCCCGG	ACGCGGTCCCCGG	-	-	ACGCGGTCCCCGG	ACGCGGTCCCCGG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr12:52797542_52797554delACGCGGTCCCCGG	ENST00000257974.2	-	2	628_640	c.551_563delCCGGGGACCGCGT	c.(550-564)tccggggaccgcgtgfs	p.SGDRV184fs	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	184	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.G185R(1)|p.S184fs*1(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTCTAGCCTCACGCGGTCCCCGGACACACAGTC	0.592																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|large_intestine(1)	12																																								51083821	SO:0001589	frameshift_variant	3888			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.551_563delCCGGGGACCGCGT	12.37:g.52797542_52797554delACGCGGTCCCCGG	ENSP00000257974:p.Ser184fs		51083809		Frame_Shift_Del	DEL	ENST00000257974.2	37	CCDS8826.1																																																																																				0.592	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		-	52797554	ACGCGGTCCCCGG	-	52797542	7	5	20	1	0	1	0	1	0	0	0	0	8496	159	6	0	1010	0	KRT82	12	52797542	Frame_Shift_Del	DEL	ACGCGGTCCCCGG	TCGA-04-1367-01A-01W-0492-08	41658116	52797542	81054353	50	1078											
EEA1	8411	broad.mit.edu	37	12	93192686	93192686	+	Silent	SNP	T	T	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr12:93192686T>C	ENST00000322349.8	-	21	3213	c.2949A>G	c.(2947-2949)aaA>aaG	p.K983K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	983	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.K983K(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAACAGCAATTTTAAGCTCTC	0.308																																																1	Substitution - coding silent(1)	ovary(1)	12											117	111	113					12																	93192686		2202	4299	6501	91716817	SO:0001819	synonymous_variant	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2949A>G	12.37:g.93192686T>C			91716817	Q14221	Silent	SNP	ENST00000322349.8	37	CCDS31874.1																																																																																				0.308	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		C	93192686	T	C	93192686	2	2	20	1	0	0	0	0	0	0	0	1	4921	1838	64	4		4	EEA1	12	93192686	Silent	SNP	T	TCGA-04-1367-01A-01W-0492-08	40395144	93192686	40659209	51	1079											
CUX2	23316	broad.mit.edu	37	12	111776155	111776155	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr12:111776155C>T	ENST00000261726.6	+	20	3416	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1088					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R1088W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTGCTGTCCCGGCCCAAACC	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											49	56	53					12																	111776155		1981	4169	6150	110260538	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3262C>T	12.37:g.111776155C>T	ENSP00000261726:p.Arg1088Trp		110260538	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418494	0.83559	.	.	ENSG00000111249	ENST00000261726	T	0.54866	0.55	5.32	3.43	0.39272	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	T	0.70608	-0.4825	10	0.87932	D	0	-31.5786	13.4294	0.61046	0.6091:0.3909:0.0:0.0	.	1088	O14529	CUX2_HUMAN	W	1088	ENSP00000261726:R1088W	ENSP00000261726:R1088W	R	+	1	2	CUX2	110260538	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.689000	0.61723	0.571000	0.29365	0.655000	0.94253	CGG		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		T	111776155	C	T	111776155	3	4	20	1	0	0	0	0	1	0	0	0	4065	643	23	1	3340	1	CUX2	12	111776155	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	18583469	111776155	22075740	52	1080											
KNTC1	9735	broad.mit.edu	37	12	123057757	123057757	+	Silent	SNP	C	C	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr12:123057757C>A	ENST00000333479.7	+	26	2385	c.2208C>A	c.(2206-2208)atC>atA	p.I736I	KNTC1_ENST00000450485.2_Silent_p.I699I	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	736					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.I736I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCCCTCCATCTTAGAGAAGT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	12											145	142	143					12																	123057757		1832	4085	5917	121623710	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2208C>A	12.37:g.123057757C>A			121623710	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																				0.388	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			A	123057757	C	A	123057757	2	1	20	1	0	0	0	0	0	0	0	1	8428	903	32	3		3	KNTC1	12	123057757	Silent	SNP	C	TCGA-04-1367-01A-01W-0492-08	11281602	123057757	10794138	53	1081											
HECTD1	25831	broad.mit.edu	37	14	31583260	31583260	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr14:31583260G>C	ENST00000399332.1	-	32	6167	c.5679C>G	c.(5677-5679)tgC>tgG	p.C1893W	HECTD1_ENST00000553700.1_Missense_Mutation_p.C1893W	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1893					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.C1893W(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTATAGACCAGCAACCCTACA	0.413																																																1	Substitution - Missense(1)	ovary(1)	14											88	77	81					14																	31583260		1907	4126	6033	30653011	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5679C>G	14.37:g.31583260G>C	ENSP00000382269:p.Cys1893Trp		30653011	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.95|14.95	2.688510|2.688510	0.48097|0.48097	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.09163	.|3.01;3.01;3.01	5.69|5.69	4.75|4.75	0.60458|0.60458	.|.	.|0.212494	.|0.36167	.|U	.|0.002747	T|T	0.12092|0.12092	0.0294|0.0294	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.995	.|D;D	.|0.70935	.|0.971;0.971	T|T	0.29671|0.29671	-1.0004|-1.0004	5|10	.|0.37606	.|T	.|0.19	-6.1603|-6.1603	6.3401|6.3401	0.21319|0.21319	0.2454:0.0:0.7546:0.0|0.2454:0.0:0.7546:0.0	.|.	.|1893;1893	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	G|W	259|1893;1895;1893;1320	.|ENSP00000450697:C1893W;ENSP00000382269:C1893W;ENSP00000451860:C1320W	.|ENSP00000261312:C1895W	A|C	-|-	2|3	0|2	HECTD1|HECTD1	30653011|30653011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.255000|5.255000	0.65462|0.65462	1.243000|1.243000	0.43853|0.43853	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.413	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			C	31583260	G	C	31583260	3	2	20	1	0	0	0	0	1	0	0	0	7039	963	34	3	2201	3	HECTD1	14	31583260	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08		31583260	75766280	54	1082											
CCDC88C	440193	broad.mit.edu	37	14	91755617	91755617	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr14:91755617G>A	ENST00000389857.6	-	25	4359	c.4273C>T	c.(4273-4275)Cgc>Tgc	p.R1425C		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1425					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.R1425C(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GATTTTAAGCGTTCCCTCGAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	14											228	237	234					14																	91755617		1957	4150	6107	90825370	SO:0001583	missense	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4273C>T	14.37:g.91755617G>A	ENSP00000374507:p.Arg1425Cys		90825370	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076392	0.55753	.	.	ENSG00000015133	ENST00000389857	T	0.19669	2.13	5.44	5.44	0.79542	.	0.155625	0.29752	U	0.011285	T	0.44329	0.1288	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.37454	-0.9705	10	0.87932	D	0	-26.4566	12.8708	0.57965	0.0:0.0:0.7152:0.2848	.	1425	Q9P219	DAPLE_HUMAN	C	1425	ENSP00000374507:R1425C	ENSP00000374507:R1425C	R	-	1	0	CCDC88C	90825370	0.998000	0.40836	0.971000	0.41717	0.391000	0.30476	3.049000	0.49869	2.541000	0.85698	0.462000	0.41574	CGC		0.557	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		A	91755617	G	A	91755617	3	1	20	1	0	0	0	0	1	0	0	0	2865	1145	40	1	1837	1	CCDC88C	14	91755617	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	60172357	91755617	15593923	55	1083											
DISP2	85455	broad.mit.edu	37	15	40661535	40661535	+	Silent	SNP	C	C	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr15:40661535C>A	ENST00000267889.3	+	8	3309	c.3222C>A	c.(3220-3222)ggC>ggA	p.G1074G	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1074					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.G1074G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTGCGGCAGGCGTGCTCATGC	0.622																																																1	Substitution - coding silent(1)	ovary(1)	15											44	43	43					15																	40661535		2202	4298	6500	38448827	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3222C>A	15.37:g.40661535C>A			38448827	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																				0.622	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		A	40661535	C	A	40661535	2	1	20	1	0	0	0	0	0	0	0	1	4540	755	27	3		3	DISP2	15	40661535	Silent	SNP	C	TCGA-04-1367-01A-01W-0492-08		40661535	61869857	56	1084											
VPS39	23339	broad.mit.edu	37	15	42480024	42480024	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr15:42480024T>C	ENST00000348544.4	-	7	405	c.406A>G	c.(406-408)Atg>Gtg	p.M136V	VPS39_ENST00000318006.5_Missense_Mutation_p.M125V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	136	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.M125V(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCCACACACATCCGTAACACC	0.453																																																1	Substitution - Missense(1)	ovary(1)	15											193	191	192					15																	42480024		2203	4299	6502	40267316	SO:0001583	missense	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.406A>G	15.37:g.42480024T>C	ENSP00000335193:p.Met136Val		40267316	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472857	0.43942	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.04454	3.62;3.62	4.95	2.38	0.29361	Citron-like (2);	0.082226	0.85682	D	0.000000	T	0.03783	0.0107	L	0.32530	0.975	0.58432	D	0.999997	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.44937	-0.9295	10	0.22109	T	0.4	-19.873	7.8683	0.29549	0.1366:0.0:0.1428:0.7207	.	136;125	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	V	125;136	ENSP00000326534:M125V;ENSP00000335193:M136V	ENSP00000326534:M125V	M	-	1	0	VPS39	40267316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.786000	0.55431	0.805000	0.34159	0.533000	0.62120	ATG		0.453	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		C	42480024	T	C	42480024	3	2	20	1	0	0	0	0	1	0	0	0	17209	1435	50	4	2334	4	VPS39	15	42480024	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	1818489	42480024	60051368	57	1085											
DUOX1	53905	broad.mit.edu	37	15	45444641	45444641	+	Silent	SNP	C	C	G			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr15:45444641C>G	ENST00000321429.4	+	26	3758	c.3351C>G	c.(3349-3351)ctC>ctG	p.L1117L	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.L1117L|DUOX1_ENST00000561166.1_Silent_p.L763L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1117	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.L1117L(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AAACCTTCCTCAACCGCTACG	0.612																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	15											207	160	176					15																	45444641		2198	4298	6496	43231933	SO:0001819	synonymous_variant	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3351C>G	15.37:g.45444641C>G			43231933	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																				0.612	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		G	45444641	C	G	45444641	2	3	20	1	0	0	0	0	0	0	0	1	4800	813	29	3		3	DUOX1	15	45444641	Silent	SNP	C	TCGA-04-1367-01A-01W-0492-08	2964617	45444641	57086751	58	1086											
NR2F2	7026	broad.mit.edu	37	15	96875659	96875659	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr15:96875659A>T	ENST00000394166.3	+	1	1714	c.325A>T	c.(325-327)Agg>Tgg	p.R109W	NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000421109.2_Intron|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000394171.2_5'Flank	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	109					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R109W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CAGCGTGCGGAGGAACCTGAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	15											82	68	72					15																	96875659		2197	4298	6495	94676663	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.325A>T	15.37:g.96875659A>T	ENSP00000377721:p.Arg109Trp		94676663	B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061236	0.76187	.	.	ENSG00000185551	ENST00000394166	D	0.97480	-4.4	4.61	4.61	0.57282	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.64402	D	0.000001	D	0.98012	0.9345	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98391	1.0563	10	0.87932	D	0	.	9.249	0.37543	0.8178:0.1822:0.0:0.0	.	109	P24468	COT2_HUMAN	W	109	ENSP00000377721:R109W	ENSP00000377721:R109W	R	+	1	2	NR2F2	94676663	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.194000	0.51005	1.705000	0.51264	0.379000	0.24179	AGG		0.602	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			T	96875659	A	T	96875659	3	4	20	1	0	0	0	0	1	0	0	0	10628	295	11	5	374	5	NR2F2	15	96875659	Missense_Mutation	SNP	A	TCGA-04-1367-01A-01W-0492-08	51431018	96875659	5655733	59	1087											
MSLNL	401827	broad.mit.edu	37	16	830433	830433	+	Intron	SNP	G	G	T	rs202228997		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr16:830433G>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.R190S			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R190S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGTGTGCACGGGTAGGTGAC	0.567																																																1	Substitution - Missense(1)	ovary(1)	16											213	189	197					16																	830433		2178	4274	6452	770434	SO:0001627	intron_variant	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-271C>A	16.37:g.830433G>T			770434		Missense_Mutation	SNP	ENST00000442466.1	37		.	.	.	.	.	.	.	.	.	.	G	7.806	0.714594	0.15306	.	.	ENSG00000162006	ENST00000293892	T	0.18338	2.22	1.33	0.33	0.15929	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35351	-0.9792	5	.	.	.	.	3.4078	0.07347	0.2778:0.0:0.7222:0.0	.	.	.	.	S	190	ENSP00000293892:R190S	.	R	-	1	0	MSLNL	770434	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-4.195000	0.00276	0.125000	0.18397	0.411000	0.27672	CGT		0.567	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		T	830433	G	T	830433	1	4	20	0	1	0	0	0	0	0	0	0	9882	1116	39	3		3	MSLNL	16	830433	Intron	SNP	G	TCGA-04-1367-01A-01W-0492-08		830433	89524320	60	1088											
PRSS21	10942	broad.mit.edu	37	16	2871383	2871383	+	Missense_Mutation	SNP	C	C	G	rs368336428		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr16:2871383C>G	ENST00000005995.3	+	6	764	c.722C>G	c.(721-723)cCc>cGc	p.P241R	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Missense_Mutation_p.P227R|PRSS21_ENST00000455114.1_Missense_Mutation_p.P239R			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	241	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P241R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TCAGGTGGACCCTTGGCCTGT	0.627																																																1	Substitution - Missense(1)	ovary(1)	16											54	59	58					16																	2871383		2198	4300	6498	2811384	SO:0001583	missense	10942			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.722C>G	16.37:g.2871383C>G	ENSP00000005995:p.Pro241Arg		2811384	Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.287151	0.80803	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	D;D;D	0.94497	-3.44;-3.44;-3.44	3.96	3.96	0.45880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.98557	0.9518	H	0.99668	4.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.98688	1.0695	9	0.87932	D	0	.	13.6181	0.62121	0.0:1.0:0.0:0.0	.	241;239;227	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	R	239;227;241	ENSP00000400632:P239R;ENSP00000407741:P227R;ENSP00000005995:P241R	ENSP00000005995:P241R	P	+	2	0	PRSS21	2811384	1.000000	0.71417	0.778000	0.31720	0.527000	0.34593	6.624000	0.74243	2.065000	0.61736	0.567000	0.79289	CCC		0.627	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		G	2871383	C	G	2871383	3	3	20	1	0	0	0	0	1	0	0	0	12621	623	22	3	744	3	PRSS21	16	2871383	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	2040950	2871383	87483370	61	1089											
DNAH3	55567	broad.mit.edu	37	16	20999161	20999161	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr16:20999161T>C	ENST00000261383.3	-	46	6735	c.6736A>G	c.(6736-6738)Atg>Gtg	p.M2246V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2246	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.M2246V(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGACCAGCATCTTTCCGTAC	0.498																																																1	Substitution - Missense(1)	ovary(1)	16											114	92	100					16																	20999161		2201	4300	6501	20906662	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6736A>G	16.37:g.20999161T>C	ENSP00000261383:p.Met2246Val		20906662	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	8.669	0.902352	0.17760	.	.	ENSG00000158486	ENST00000261383	T	0.34472	1.36	5.18	4.08	0.47627	.	0.283692	0.37095	N	0.002260	T	0.21962	0.0529	N	0.25332	0.735	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.06075	-1.0847	10	0.16896	T	0.51	.	7.6179	0.28169	0.14:0.0:0.1466:0.7133	.	2246	Q8TD57	DYH3_HUMAN	V	2246	ENSP00000261383:M2246V	ENSP00000261383:M2246V	M	-	1	0	DNAH3	20906662	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	2.812000	0.47994	0.804000	0.34136	0.477000	0.44152	ATG		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		C	20999161	T	C	20999161	3	2	20	1	0	0	0	0	1	0	0	0	4603	1435	50	4	5681	4	DNAH3	16	20999161	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	18127778	20999161	69355592	62	1090											
SLC5A11	115584	broad.mit.edu	37	16	24902190	24902190	+	Splice_Site	SNP	G	G	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr16:24902190G>T	ENST00000347898.3	+	9	1287	c.665G>T	c.(664-666)aGt>aTt	p.S222I	SLC5A11_ENST00000567758.1_Splice_Site_p.S187I|SLC5A11_ENST00000539472.1_Splice_Site_p.S158I|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000545376.1_Splice_Site_p.S152I|SLC5A11_ENST00000424767.2_Splice_Site_p.S187I|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000565769.1_Splice_Site_p.S158I|SLC5A11_ENST00000568579.1_Splice_Site_p.S152I	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.S222I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGAATTCTAGGTTTTGCCGCG	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											113	117	116					16																	24902190		2197	4300	6497	24809691	SO:0001630	splice_region_variant	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.665-1G>T	16.37:g.24902190G>T			24809691		Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099028	0.76870	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.9	5.9	0.94986	.	0.037548	0.85682	D	0.000000	D	0.95736	0.8613	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79784	0.993;0.984;0.973	D	0.96052	0.9032	9	.	.	.	.	17.7564	0.88450	0.0:0.0:1.0:0.0	.	152;187;222	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	I	222;187;152;158	ENSP00000289932:S222I;ENSP00000416782:S187I;ENSP00000441384:S152I;ENSP00000441018:S158I	.	S	+	2	0	SLC5A11	24809691	1.000000	0.71417	0.899000	0.35326	0.325000	0.28411	6.311000	0.72835	2.802000	0.96397	0.650000	0.86243	AGT		0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944	Missense_Mutation	T	24902190	G	T	24902190	5	4	20	1	0	0	0	0	0	0	1	0	14666	1275	44	3	695	3	SLC5A11	16	24902190	Splice_Site	SNP	G	TCGA-04-1367-01A-01W-0492-08	3903029	24902190	65452563	63	1091											
CES3	23491	broad.mit.edu	37	16	67000683	67000683	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr16:67000683A>G	ENST00000303334.4	+	8	1048	c.977A>G	c.(976-978)aAg>aGg	p.K326R	CES3_ENST00000394037.1_Missense_Mutation_p.K326R|CES3_ENST00000543856.1_5'Flank	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	326						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.K326R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AAAAGCCCCAAGGAACTCCTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	16											148	149	149					16																	67000683		2200	4300	6500	65558184	SO:0001583	missense	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.977A>G	16.37:g.67000683A>G	ENSP00000304782:p.Lys326Arg		65558184	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543567	0.45280	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.66995	-0.24;-0.24	3.97	1.71	0.24356	Carboxylesterase, type B (1);	1.181010	0.06374	N	0.714123	T	0.50103	0.1596	N	0.14661	0.345	0.26159	N	0.980023	B	0.15141	0.012	B	0.22152	0.038	T	0.43491	-0.9388	10	0.52906	T	0.07	.	6.6997	0.23219	0.7923:0.0:0.2077:0.0	.	326	Q6UWW8	EST3_HUMAN	R	326	ENSP00000304782:K326R;ENSP00000377602:K326R	ENSP00000304782:K326R	K	+	2	0	CES3	65558184	0.181000	0.23161	0.099000	0.21106	0.535000	0.34838	3.412000	0.52679	0.147000	0.19030	0.524000	0.50904	AAG		0.537	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		G	67000683	A	G	67000683	3	3	20	1	0	0	0	0	1	0	0	0	3271	72	3	4	1007	4	CES3	16	67000683	Missense_Mutation	SNP	A	TCGA-04-1367-01A-01W-0492-08	42098493	67000683	23354070	64	1092											
TXNL4B	54957	broad.mit.edu	37	16	72120641	72120641	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr16:72120641C>A	ENST00000268483.3	-	4	666	c.345G>T	c.(343-345)ttG>ttT	p.L115F	TXNL4B_ENST00000423037.1_Missense_Mutation_p.L115F|RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000426362.2_Missense_Mutation_p.L115F	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	115					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)		p.L115F(1)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						TTACTTCAATCAAATCTATGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	16											106	99	101					16																	72120641		2198	4300	6498	70678142	SO:0001583	missense	54957			BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.345G>T	16.37:g.72120641C>A	ENSP00000268483:p.Leu115Phe		70678142	D3DWS6	Missense_Mutation	SNP	ENST00000268483.3	37	CCDS10906.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505753	0.85282	.	.	ENSG00000140830	ENST00000268483;ENST00000426362;ENST00000423037	.	.	.	5.87	4.91	0.64330	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	L	0.61218	1.895	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.70368	-0.4891	9	0.87932	D	0	.	8.9815	0.35968	0.0:0.7664:0.1523:0.0813	.	115	Q9NX01	TXN4B_HUMAN	F	115	.	ENSP00000268483:L115F	L	-	3	2	TXNL4B	70678142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.481000	0.35476	2.941000	0.99782	0.655000	0.94253	TTG		0.383	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853		A	72120641	C	A	72120641	3	1	20	1	0	0	0	0	1	0	0	0	16806	825	29	3	108	3	TXNL4B	16	72120641	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	5119958	72120641	18234112	65	1093											
ANKRD11	29123	broad.mit.edu	37	16	89348397	89348397	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr16:89348397G>C	ENST00000301030.4	-	9	5013	c.4553C>G	c.(4552-4554)tCc>tGc	p.S1518C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1518C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1518	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S1518C(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCGTCCCTGGACTTGTCTTT	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											72	69	70					16																	89348397		2198	4300	6498	87875898	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4553C>G	16.37:g.89348397G>C	ENSP00000301030:p.Ser1518Cys		87875898	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460470	0.43736	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.40476	1.03;1.03	5.11	3.08	0.35506	.	0.513014	0.20207	N	0.096970	T	0.39384	0.1076	M	0.64997	1.995	0.80722	D	1	B	0.16166	0.016	B	0.12156	0.007	T	0.29243	-1.0018	10	0.66056	D	0.02	.	9.701	0.40187	0.0742:0.2686:0.6572:0.0	.	1518	Q6UB99	ANR11_HUMAN	C	1518	ENSP00000301030:S1518C;ENSP00000367581:S1518C	ENSP00000301030:S1518C	S	-	2	0	ANKRD11	87875898	1.000000	0.71417	0.310000	0.25168	0.179000	0.23085	5.120000	0.64685	0.611000	0.30052	-0.300000	0.09419	TCC		0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		C	89348397	G	C	89348397	3	2	20	1	0	0	0	0	1	0	0	0	639	1174	41	3	3458	3	ANKRD11	16	89348397	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	17227756	89348397	1006356	66	1094											
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		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"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	17	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	7518284	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.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		7518284	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	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577559	G	A	7577559	3	1	20	1	0	0	0	0	1	0	0	0	16381	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08		7577559	73617651	67	1095											
NF1	4763	broad.mit.edu	37	17	29490249	29490249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr17:29490249C>T	ENST00000358273.4	+	4	717	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	NF1_ENST00000431387.4_Nonsense_Mutation_p.Q112*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q112*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	112					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.Q112*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTGGTCAAACAGTTGCTGCC	0.373			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|ovary(1)	17											73	74	74					17																	29490249		2203	4300	6503	26514375	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.334C>T	17.37:g.29490249C>T	ENSP00000351015:p.Gln112*		26514375	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668905	0.88348	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.1295	0.97995	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	ENSP00000348498:Q112X	Q	+	1	0	NF1	26514375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.161000	0.77505	2.758000	0.94735	0.591000	0.81541	CAG		0.373	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29490249	C	T	29490249	4	4	20	1	0	0	0	0	0	1	0	0	10356	479	17	2	348	2	NF1	17	29490249	Nonsense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	21912690	29490249	51704961	68	1096											
CIC	23152	broad.mit.edu	37	19	42790965	42790965	+	Missense_Mutation	SNP	G	G	C	rs77130411		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr19:42790965G>C	ENST00000575354.2	+	2	150	c.110G>C	c.(109-111)tGg>tCg	p.W37S	CIC_ENST00000575839.2_3'UTR|CIC_ENST00000160740.3_Missense_Mutation_p.W37S|CIC_ENST00000572681.2_Missense_Mutation_p.W946S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	37	Interaction with ATXN1. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.W37S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGTTCCCTTGGCACTCCTTA	0.647			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Substitution - Missense(1)	ovary(1)	19											87	80	82					19																	42790965		2203	4300	6503	47482805	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.110G>C	19.37:g.42790965G>C	ENSP00000458663:p.Trp37Ser		47482805	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.131829	0.37630	.	.	ENSG00000079432	ENST00000160740	.	.	.	3.68	2.62	0.31277	.	.	.	.	.	T	0.47619	0.1455	L	0.32530	0.975	0.58432	D	0.999999	P	0.52316	0.952	P	0.49140	0.601	T	0.48779	-0.9005	8	0.87932	D	0	-6.1105	10.2863	0.43568	0.0:0.0:0.8018:0.1982	.	37	Q96RK0	CIC_HUMAN	S	37	.	ENSP00000160740:W37S	W	+	2	0	CIC	47482805	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	8.705000	0.91357	0.746000	0.32786	0.306000	0.20318	TGG		0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			C	42790965	G	C	42790965	3	2	20	1	0	0	0	0	1	0	0	0	3424	1357	47	3	116	3	CIC	19	42790965	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08		42790965	16338018	69	1097											
SIGLEC11	114132	broad.mit.edu	37	19	50464030	50464030	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr19:50464030G>C	ENST00000447370.2	-	2	329	c.239C>G	c.(238-240)cCa>cGa	p.P80R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P80R|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	80	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P68R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACCCGTCTTTGGGCTGGTCCG	0.597																																																1	Substitution - Missense(1)	ovary(1)	19											47	41	43					19																	50464030		2202	4300	6502	55155842	SO:0001583	missense	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.239C>G	19.37:g.50464030G>C	ENSP00000412361:p.Pro80Arg		55155842		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.552|6.552	0.470126|0.470126	0.12461|0.12461	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.68181|.	-0.31|.	2.63|2.63	-4.07|-4.07	0.03975|0.03975	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	2.604410|.	0.01293|.	N|.	0.010064|.	T|T	0.27384|0.27384	0.0672|0.0672	L|L	0.33189|0.33189	0.99|0.99	0.09310|0.09310	N|N	1|1	B;B|.	0.33103|.	0.397;0.311|.	B;B|.	0.43413|.	0.419;0.158|.	T|T	0.31888|0.31888	-0.9927|-0.9927	10|5	0.17832|.	T|.	0.49|.	.|.	4.7231|4.7231	0.12927|0.12927	0.1335:0.0:0.2412:0.6254|0.1335:0.0:0.2412:0.6254	.|.	80;80|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	R|E	80|70	ENSP00000412361:P80R|.	ENSP00000412361:P80R|.	P|Q	-|-	2|1	0|0	SIGLEC11|SIGLEC11	55155842|55155842	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.081000|-0.081000	0.11321|0.11321	-0.732000|-0.732000	0.04856|0.04856	0.561000|0.561000	0.74099|0.74099	CCA|CAA		0.597	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		C	50464030	G	C	50464030	3	2	20	1	0	0	0	0	1	0	0	0	14310	1348	47	3	1897	3	SIGLEC11	19	50464030	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	7673065	50464030	8664953	70	1098											
PEG3	5178	broad.mit.edu	37	19	57333111	57333111	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr19:57333111G>A	ENST00000326441.9	-	7	940	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	ZIM2_ENST00000599935.1_Missense_Mutation_p.R68W|PEG3_ENST00000593695.1_Missense_Mutation_p.R67W|ZIM2_ENST00000221722.5_Missense_Mutation_p.R68W|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000391708.3_Missense_Mutation_p.R68W|ZIM2_ENST00000593711.1_Missense_Mutation_p.R68W|PEG3_ENST00000423103.2_Missense_Mutation_p.R193W|PEG3_ENST00000598410.1_Missense_Mutation_p.R68W|ZIM2_ENST00000601070.1_Missense_Mutation_p.R68W	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	193					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R68W(1)|p.R193W(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAAGATCCCGCGGAGGCATC	0.547																																																2	Substitution - Missense(2)	ovary(2)	19											127	116	120					19																	57333111		2203	4300	6503	62024923	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.577C>T	19.37:g.57333111G>A	ENSP00000326581:p.Arg193Trp		62024923	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064148	0.55432	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.06608	3.28;3.28;3.98;3.98	3.57	2.54	0.30619	.	0.499126	0.15460	N	0.261194	T	0.10852	0.0265	L	0.27053	0.805	.	.	.	B;B;D;B	0.76494	0.078;0.078;0.999;0.425	B;B;D;B	0.64877	0.009;0.005;0.93;0.035	T	0.14008	-1.0488	9	0.87932	D	0	-6.3031	6.8095	0.23796	0.1271:0.0:0.8729:0.0	.	68;193;127;68	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	W	68;68;193;193;193	ENSP00000375589:R68W;ENSP00000221722:R68W;ENSP00000326581:R193W;ENSP00000403051:R193W	ENSP00000221722:R68W	R	-	1	2	ZIM2	62024923	0.014000	0.17966	0.477000	0.27303	0.896000	0.52359	1.845000	0.39279	1.105000	0.41606	0.563000	0.77884	CGG		0.547	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			A	57333111	G	A	57333111	3	1	20	1	0	0	0	0	1	0	0	0	11720	1086	38	1	4208	1	PEG3	19	57333111	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	6869081	57333111	1795872	71	1099											
CLIC6	54102	broad.mit.edu	37	21	36080253	36080253	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr21:36080253A>T	ENST00000360731.3	+	4	1550	c.1550A>T	c.(1549-1551)gAc>gTc	p.D517V	CLIC6_ENST00000349499.2_Missense_Mutation_p.D499V			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	517						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.D499V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AAACCCGCAGACCTGCAGAAC	0.502																																																1	Substitution - Missense(1)	ovary(1)	21											75	68	71					21																	36080253		2203	4300	6503	35002123	SO:0001583	missense	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1550A>T	21.37:g.36080253A>T	ENSP00000353959:p.Asp517Val		35002123	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		.	.	.	.	.	.	.	.	.	.	A	24.0	4.481489	0.84747	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.26373	1.74;1.74	4.96	4.96	0.65561	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.33111	-0.9881	10	0.87932	D	0	-7.9027	14.8309	0.70149	1.0:0.0:0.0:0.0	.	517;499	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	V	517;499	ENSP00000353959:D517V;ENSP00000290332:D499V	ENSP00000290332:D499V	D	+	2	0	CLIC6	35002123	1.000000	0.71417	0.989000	0.46669	0.952000	0.60782	9.099000	0.94207	2.076000	0.62316	0.533000	0.62120	GAC		0.502	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			T	36080253	A	T	36080253	3	4	20	1	0	0	0	0	1	0	0	0	3530	275	10	5	1506	5	CLIC6	21	36080253	Missense_Mutation	SNP	A	TCGA-04-1367-01A-01W-0492-08		36080253	12049642	72	1100											
DSCAM	1826	broad.mit.edu	37	21	41457667	41457667	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr21:41457667T>A	ENST00000400454.1	-	23	4471	c.3994A>T	c.(3994-3996)Att>Ttt	p.I1332F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1332	Ig-like C2-type 10.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I1332F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGCCCATCAATCGTTACTAGA	0.443																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - Missense(1)	ovary(1)	21											84	78	79					21																	41457667		1887	4125	6012	40379537	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3994A>T	21.37:g.41457667T>A	ENSP00000383303:p.Ile1332Phe		40379537	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175136	0.38413	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.29917	1.55;1.55	5.52	-0.00932	0.14001	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170372	0.49916	D	0.000130	T	0.16428	0.0395	N	0.17631	0.505	0.26986	N	0.965257	P	0.48162	0.906	P	0.46049	0.502	T	0.27773	-1.0064	10	0.07644	T	0.81	.	6.8209	0.23857	0.0:0.2869:0.1178:0.5953	.	1332	O60469	DSCAM_HUMAN	F	1332;1084	ENSP00000383303:I1332F;ENSP00000385342:I1084F	ENSP00000383303:I1332F	I	-	1	0	DSCAM	40379537	0.965000	0.33210	0.998000	0.56505	0.987000	0.75469	0.800000	0.27042	0.068000	0.16574	0.533000	0.62120	ATT		0.443	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41457667	T	A	41457667	3	1	20	1	0	0	0	0	1	0	0	0	4768	1435	50	5	2088	5	DSCAM	21	41457667	Missense_Mutation	SNP	T	TCGA-04-1367-01A-01W-0492-08	5377414	41457667	6672228	73	1101											
ITGB2	3689	broad.mit.edu	37	21	46319077	46319077	+	Splice_Site	SNP	C	C	G			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr21:46319077C>G	ENST00000397850.2	-	9	1350	c.898G>C	c.(898-900)Gac>Cac	p.D300H	ITGB2_ENST00000397857.1_Splice_Site_p.D300H|ITGB2_ENST00000397852.1_Splice_Site_p.D300H|ITGB2_ENST00000302347.5_Splice_Site_p.D300H|ITGB2_ENST00000397854.3_Splice_Site_p.D243H|ITGB2_ENST00000355153.4_Splice_Site_p.D300H			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	300	VWFA.		D -> V (in LAD1; dbSNP:rs179363874). {ECO:0000269|PubMed:20529581}.		apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.D300H(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GATGGGTAGTCCTGGAGAGAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	21											101	75	84					21																	46319077		2203	4300	6503	45143505	SO:0001630	splice_region_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.898-1G>C	21.37:g.46319077C>G			45143505	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511820	0.85389	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6	4.92	4.92	0.64577	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.98150	0.9389	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99383	1.0923	9	0.87932	D	0	.	15.9907	0.80202	0.0:1.0:0.0:0.0	.	243;300	A8MYE6;P05107	.;ITB2_HUMAN	H	300;300;243;300;300;300;243;291	ENSP00000380950:D300H;ENSP00000380955:D300H;ENSP00000380952:D243H;ENSP00000347279:D300H;ENSP00000380948:D300H;ENSP00000303242:D300H;ENSP00000317697:D291H	ENSP00000303242:D300H	D	-	1	0	ITGB2	45143505	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.048000	0.76606	2.462000	0.83206	0.561000	0.74099	GAC		0.632	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Missense_Mutation	G	46319077	C	G	46319077	5	3	20	1	0	0	0	0	0	0	1	0	7894	869	30	3	1447	3	ITGB2	21	46319077	Splice_Site	SNP	C	TCGA-04-1367-01A-01W-0492-08	4861410	46319077	1810818	74	1102											
ISX	91464	broad.mit.edu	37	22	35481585	35481585	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr22:35481585C>A	ENST00000308700.6	+	4	1589	c.637C>A	c.(637-639)Cct>Act	p.P213T	ISX_ENST00000404699.2_Missense_Mutation_p.P213T	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	213					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P213T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GGAAACACAGCCTGTCCCAGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	22											223	152	176					22																	35481585		2203	4300	6503	33811585	SO:0001583	missense	91464			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.637C>A	22.37:g.35481585C>A	ENSP00000311492:p.Pro213Thr		33811585	Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775048	0.49786	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.90620	-2.7;-2.7	5.14	1.35	0.21983	.	0.142348	0.32901	N	0.005502	D	0.87047	0.6080	M	0.62723	1.935	0.09310	N	1	P	0.50066	0.931	P	0.45310	0.476	T	0.77696	-0.2491	10	0.33141	T	0.24	.	5.5834	0.17262	0.0:0.6238:0.1695:0.2066	.	213	Q2M1V0	ISX_HUMAN	T	213	ENSP00000311492:P213T;ENSP00000386037:P213T	ENSP00000311492:P213T	P	+	1	0	ISX	33811585	0.000000	0.05858	0.009000	0.14445	0.012000	0.07955	0.435000	0.21510	0.545000	0.28902	0.655000	0.94253	CCT		0.572	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		A	35481585	C	A	35481585	3	1	20	1	0	0	0	0	1	0	0	0	7865	739	26	3	651	3	ISX	22	35481585	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08		35481585	15822981	75	1103											
GGA1	26088	broad.mit.edu	37	22	38021949	38021949	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr22:38021949G>A	ENST00000343632.4	+	11	1472	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	GGA1_ENST00000406772.1_Missense_Mutation_p.M289I|GGA1_ENST00000381756.5_Missense_Mutation_p.M379I|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Missense_Mutation_p.M329I	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	362	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.M362I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACGAGCTCATGTCTCTGGGTG	0.672																																																1	Substitution - Missense(1)	ovary(1)	22											51	48	49					22																	38021949		2203	4299	6502	36351895	SO:0001583	missense	26088			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1086G>A	22.37:g.38021949G>A	ENSP00000341344:p.Met362Ile		36351895	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	g	18.41	3.619015	0.66787	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000337437;ENST00000406772	T;T;T;T	0.29655	2.57;2.31;1.56;1.58	4.86	4.86	0.63082	.	0.281557	0.44688	N	0.000440	T	0.35189	0.0923	M	0.65498	2.005	0.80722	D	1	B;B	0.25441	0.126;0.046	B;B	0.21151	0.033;0.027	T	0.16512	-1.0400	10	0.38643	T	0.18	-14.9512	17.993	0.89174	0.0:0.0:1.0:0.0	.	379;362	Q6IC75;Q9UJY5	.;GGA1_HUMAN	I	362;379;329;289	ENSP00000341344:M362I;ENSP00000371175:M379I;ENSP00000338647:M329I;ENSP00000385287:M289I	ENSP00000338647:M329I	M	+	3	0	GGA1	36351895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.500000	0.97977	2.258000	0.74832	0.558000	0.71614	ATG		0.672	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		A	38021949	G	A	38021949	3	1	20	1	0	0	0	0	1	0	0	0	6352	1377	48	2	1194	2	GGA1	22	38021949	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	2540364	38021949	13282617	76	1104											
ATXN10	25814	broad.mit.edu	37	22	46088947	46088947	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chr22:46088947C>G	ENST00000252934.5	+	3	645	c.380C>G	c.(379-381)tCt>tGt	p.S127C	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.S63C	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	127					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.S127C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GAACAGGAATCTCTGTTGACA	0.333																																																1	Substitution - Missense(1)	ovary(1)	22											146	141	143					22																	46088947		2203	4300	6503	44467611	SO:0001583	missense	25814			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"Ataxins"	10549	protein-coding gene	gene with protein product		611150	"spinocerebellar ataxia 10"	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.380C>G	22.37:g.46088947C>G	ENSP00000252934:p.Ser127Cys		44467611	A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795108	0.50208	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.52526	0.66;0.66	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.993388	0.08190	N	0.984096	T	0.38639	0.1048	N	0.14661	0.345	0.09310	N	1	D;P	0.56746	0.977;0.949	P;B	0.46076	0.503;0.401	T	0.23976	-1.0173	10	0.56958	D	0.05	-14.9884	10.8023	0.46495	0.0:0.9141:0.0:0.0859	.	63;127	A6NLC4;Q9UBB4	.;ATX10_HUMAN	C	63;127;127	ENSP00000370449:S63C;ENSP00000252934:S127C	ENSP00000252934:S127C	S	+	2	0	ATXN10	44467611	0.009000	0.17119	0.056000	0.19401	0.888000	0.51559	2.028000	0.41088	2.690000	0.91761	0.655000	0.94253	TCT		0.333	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		G	46088947	C	G	46088947	3	3	20	1	0	0	0	0	1	0	0	0	1210	913	32	3	390	3	ATXN10	22	46088947	Missense_Mutation	SNP	C	TCGA-04-1367-01A-01W-0492-08	8066998	46088947	5215619	77	1105											
ARL13A	392509	broad.mit.edu	37	X	100243217	100243217	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chrX:100243217G>C	ENST00000450049.2	+	7	802	c.689G>C	c.(688-690)aGa>aCa	p.R230T		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	230					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.R230T(1)		endometrium(1)|ovary(1)	2						AAGGAGAAAAGACAGCATCTA	0.413																																																1	Substitution - Missense(1)	ovary(1)	X											74	62	66					X																	100243217		1941	4120	6061	100129873	SO:0001583	missense	392509				CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	31709	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 13"	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.689G>C	X.37:g.100243217G>C	ENSP00000398637:p.Arg230Thr		100129873	B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774659	0.49786	.	.	ENSG00000174225	ENST00000450049;ENST00000372953	T	0.64803	-0.12	3.52	2.66	0.31614	.	0.609780	0.16512	N	0.211186	T	0.51143	0.1657	L	0.34521	1.04	0.23798	N	0.996811	D;D	0.58620	0.983;0.983	P;B	0.46389	0.515;0.435	T	0.42464	-0.9450	10	0.59425	D	0.04	.	6.0891	0.19985	0.1433:0.0:0.8567:0.0	.	230;230	B2RTT6;Q5H913	.;AR13A_HUMAN	T	230;104	ENSP00000398637:R230T	ENSP00000362044:R104T	R	+	2	0	ARL13A	100129873	0.000000	0.05858	0.765000	0.31456	0.182000	0.23217	-0.117000	0.10708	0.878000	0.35920	0.436000	0.28706	AGA		0.413	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		C	100243217	G	C	100243217	3	2	20	1	0	0	0	0	1	0	0	0	928	942	33	3	711	3	ARL13A	23	100243217	Missense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08		100243217	55027343	78	1106											
F8	2157	broad.mit.edu	37	X	154156922	154156922	+	Nonsense_Mutation	SNP	G	G	A	rs137852439		TCGA-04-1367-01A-01W-0492-08	TCGA-04-1367-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7613dcfe-6866-4b7a-8567-0cc4a9c6c40e	30e559be-9316-4c86-88c9-a5ea0a9cb635	g.chrX:154156922G>A	ENST00000360256.4	-	14	5343	c.5143C>T	c.(5143-5145)Cga>Tga	p.R1715*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1715	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild). {ECO:0000269|PubMed:1349567, ECO:0000269|PubMed:9886318}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.R1715*(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAATAGTGTCGTGTTTTCTTT	0.398																																																2	Substitution - Nonsense(2)	ovary(2)	X	GRCh37	CM900094|CM920258	F8	M	rs137852439						73	63	67					X																	154156922		2203	4300	6503	153810116	SO:0001587	stop_gained	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5143C>T	X.37:g.154156922G>A	ENSP00000353393:p.Arg1715*		153810116	Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	47	12.971596	0.99710	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.01	4.11	0.48088	.	0.303929	0.32147	N	0.006514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3121	9.6412	0.39839	0.0:0.0:0.7916:0.2084	.	.	.	.	X	1715	.	ENSP00000353393:R1715X	R	-	1	2	F8	153810116	1.000000	0.71417	0.820000	0.32676	0.984000	0.73092	3.491000	0.53252	0.838000	0.34948	0.544000	0.68410	CGA		0.398	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154156922	G	A	154156922	4	1	20	1	0	0	0	0	0	1	0	0	5350	1153	40	1	1992	1	F8	23	154156922	Nonsense_Mutation	SNP	G	TCGA-04-1367-01A-01W-0492-08	53913705	154156922	1113638	79	1107											
RCAN3	11123	genome.wustl.edu	37	1	24841022	24841022	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:24841022G>A	ENST00000374395.4	+	2	473	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	RCAN3_ENST00000412742.2_Missense_Mutation_p.V54I|RCAN3_ENST00000374393.2_Missense_Mutation_p.V54I|RCAN3_ENST00000436717.2_Missense_Mutation_p.V54I|RCAN3_ENST00000538532.1_Missense_Mutation_p.V54I	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	54					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)	p.V54I(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TGCTTGCAGCGTCCATGAAGC	0.423																																																1	Substitution - Missense(1)	central_nervous_system(1)	1											175	137	150					1																	24841022		2203	4300	6503	24713609	SO:0001583	missense	11123				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.160G>A	1.37:g.24841022G>A	ENSP00000363516:p.Val54Ile		24713609	A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	CCDS254.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152876	0.78001	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000425530;ENST00000412742;ENST00000538532;ENST00000374393	T;T;T	0.52295	0.74;0.78;0.67	5.28	5.28	0.74379	.	0.061359	0.64402	D	0.000004	T	0.59878	0.2226	L	0.32530	0.975	0.58432	D	0.999998	D;P;D;D;D	0.89917	1.0;0.928;0.999;0.999;0.999	D;B;D;D;D	0.85130	0.995;0.233;0.993;0.997;0.986	T	0.63382	-0.6650	10	0.87932	D	0	-22.806	17.0855	0.86610	0.0:0.0:1.0:0.0	.	54;54;54;54;54	E7EWD8;E7ENV1;A4GU14;Q9UKA8-2;Q9UKA8	.;.;.;.;RCAN3_HUMAN	I	54	ENSP00000363516:V54I;ENSP00000414447:V54I;ENSP00000445401:V54I	ENSP00000363514:V54I	V	+	1	0	RCAN3	24713609	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.815000	0.91973	2.467000	0.83353	0.591000	0.81541	GTC		0.423	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			A	24841022	G	A	24841022	3	1	21	1	0	0	0	0	1	0	0	0	13173	1145	40	1	162	1	RCAN3	1	24841022	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09		24841022	224409599	1	1108											
COL11A1	1301	genome.wustl.edu	37	1	103380331	103380331	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:103380331C>T	ENST00000370096.3	-	51	4165	c.3853G>A	c.(3853-3855)Ggt>Agt	p.G1285S	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1297S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1169S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1246S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1285	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGTGGACCAGCTTCCCCT	0.478																																																0			1											51	50	50					1																	103380331		2203	4300	6503	103152919	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3853G>A	1.37:g.103380331C>T	ENSP00000359114:p.Gly1285Ser		103152919	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566278	0.86439	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97888	-4.24;-4.17;-4.59;-4.59	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99080	0.9684	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.999;1.0;0.998;0.996	D	0.99577	1.0972	10	0.87932	D	0	.	19.8928	0.96935	0.0:1.0:0.0:0.0	.	1169;1246;1297;1285;505	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	1285;1297;1246;505;1169	ENSP00000359114:G1285S;ENSP00000351163:G1297S;ENSP00000302551:G1246S;ENSP00000426533:G1169S	ENSP00000302551:G1246S	G	-	1	0	COL11A1	103152919	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	7.403000	0.79983	2.713000	0.92767	0.591000	0.81541	GGT		0.478	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103380331	C	T	103380331	3	4	21	1	0	0	0	0	1	0	0	0	3667	594	21	2	1635	2	COL11A1	1	103380331	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	78539309	103380331	145870290	2	1109											
REG4	83998	genome.wustl.edu	37	1	120345694	120345694	+	Silent	SNP	G	G	T	rs202195883		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:120345694G>T	ENST00000354219.1	-	4	601	c.162C>A	c.(160-162)gcC>gcA	p.A54A	REG4_ENST00000530654.1_Silent_p.A54A|REG4_ENST00000369401.4_Silent_p.A54A|REG4_ENST00000256585.5_Silent_p.A54A	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	54	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)	p.A54A(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTCTTACCTCGGCATCAGACC	0.502																																																1	Substitution - coding silent(1)	central_nervous_system(1)	1											73	69	70					1																	120345694		2203	4300	6503	120147217	SO:0001819	synonymous_variant	83998			AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"regenerating gene type IV", " gastrointestinal secretory protein"	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.162C>A	1.37:g.120345694G>T			120147217	Q8NER6|Q8NER7	Silent	SNP	ENST00000354219.1	37	CCDS906.1																																																																																				0.502	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		T	120345694	G	T	120345694	2	4	21	1	0	0	0	0	0	0	0	1	13217	1103	39	3		3	REG4	1	120345694	Silent	SNP	G	TCGA-04-1369-01A-02D-1526-09	16965363	120345694	128904927	3	1110											
SEMA6C	10500	genome.wustl.edu	37	1	151107653	151107653	+	Silent	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:151107653A>G	ENST00000341697.3	-	15	3257	c.1566T>C	c.(1564-1566)caT>caC	p.H522H	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	522					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACAGGCCCCATGCCGGGCAC	0.617																																																0			1											74	76	75					1																	151107653		2203	4300	6503	149374277	SO:0001819	synonymous_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1566T>C	1.37:g.151107653A>G			149374277	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	CCDS984.1																																																																																				0.617	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		G	151107653	A	G	151107653	2	3	21	1	0	0	0	0	0	0	0	1	14044	214	8	4		4	SEMA6C	1	151107653	Silent	SNP	A	TCGA-04-1369-01A-02D-1526-09	30761959	151107653	98142968	4	1111											
HRNR	388697	genome.wustl.edu	37	1	152193691	152193691	+	Silent	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:152193691A>G	ENST00000368801.2	-	3	489	c.414T>C	c.(412-414)gaT>gaC	p.D138D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	138					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAATAGGAATCATTCTCTC	0.423																																																0			1											195	164	175					1																	152193691		2203	4300	6503	150460315	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.414T>C	1.37:g.152193691A>G			150460315	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																				0.423	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152193691	A	G	152193691	2	3	21	1	0	0	0	0	0	0	0	1	7359	98	4	4		4	HRNR	1	152193691	Silent	SNP	A	TCGA-04-1369-01A-02D-1526-09	1086038	152193691	97056930	5	1112											
CD1A	909	genome.wustl.edu	37	1	158226066	158226066	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:158226066C>T	ENST00000289429.5	+	3	1131	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCTCCAGCGGCAAGGTCA	0.463																																																0			1											115	97	103					1																	158226066		2203	4300	6503	156492690	SO:0001583	missense	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.598C>T	1.37:g.158226066C>T	ENSP00000289429:p.Arg200Trp		156492690	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122253	0.37436	.	.	ENSG00000158477	ENST00000289429	T	0.19938	2.11	4.23	-8.46	0.00942	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);	0.232513	0.21411	N	0.074965	T	0.34483	0.0899	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47923	-0.9079	10	0.87932	D	0	-16.0605	9.723	0.40315	0.7099:0.1423:0.0:0.1478	.	200	P06126	CD1A_HUMAN	W	200	ENSP00000289429:R200W	ENSP00000289429:R200W	R	+	1	2	CD1A	156492690	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.433000	0.00472	-2.213000	0.00735	-1.815000	0.00603	CGG		0.463	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		T	158226066	C	T	158226066	3	4	21	1	0	0	0	0	1	0	0	0	2974	759	27	1	608	1	CD1A	1	158226066	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	6032375	158226066	91024555	6	1113											
HMCN1	83872	genome.wustl.edu	37	1	186113321	186113321	+	Silent	SNP	C	C	T	rs372274735	byFrequency	TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:186113321C>T	ENST00000271588.4	+	90	14170	c.13941C>T	c.(13939-13941)agC>agT	p.S4647S	HMCN1_ENST00000367492.2_Silent_p.S4647S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4647	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGCATGGAGCGCTTGGCAGC	0.438													C|||	5	0.000998403	0	0	5008	,	,		17884	0.003		0	False		,,,				2504	0.002															0			1											114	117	116					1																	186113321		2203	4300	6503	184379944	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13941C>T	1.37:g.186113321C>T			184379944	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186113321	C	T	186113321	2	4	21	1	0	0	0	0	0	0	0	1	7220	767	27	1		1	HMCN1	1	186113321	Silent	SNP	C	TCGA-04-1369-01A-02D-1526-09	27887255	186113321	63137300	7	1114											
HMCN1	83872	genome.wustl.edu	37	1	186120472	186120472	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:186120472C>T	ENST00000271588.4	+	94	14978	c.14749C>T	c.(14749-14751)Cgt>Tgt	p.R4917C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4917C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4917	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATGTACCTCGTAGTCTTGG	0.323																																																0			1											97	96	96					1																	186120472		2203	4300	6503	184387095	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14749C>T	1.37:g.186120472C>T	ENSP00000271588:p.Arg4917Cys		184387095	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209195	0.58343	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.23552	1.9;1.9	5.04	5.04	0.67666	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.098532	0.64402	D	0.000003	T	0.44350	0.1289	L	0.51422	1.61	0.51767	D	0.999934	D	0.89917	1.0	D	0.77004	0.989	T	0.35871	-0.9771	10	0.72032	D	0.01	.	13.3662	0.60684	0.1577:0.8423:0.0:0.0	.	4917	Q96RW7	HMCN1_HUMAN	C	4917	ENSP00000271588:R4917C;ENSP00000356462:R4917C	ENSP00000271588:R4917C	R	+	1	0	HMCN1	184387095	1.000000	0.71417	0.995000	0.50966	0.523000	0.34469	4.892000	0.63193	2.325000	0.78763	0.591000	0.81541	CGT		0.323	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186120472	C	T	186120472	3	4	21	1	0	0	0	0	1	0	0	0	7220	884	31	1	15123	1	HMCN1	1	186120472	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	7151	186120472	63130149	8	1115											
KCNT2	343450	genome.wustl.edu	37	1	196392244	196392244	+	Splice_Site	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:196392244C>A	ENST00000294725.9	-	12	2037		c.e12-1		KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTCATCCATCCTAAATACAGA	0.338																																																0			1											59	54	56					1																	196392244		2202	4297	6499	194658867	SO:0001630	splice_region_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1122-1G>T	1.37:g.196392244C>A			194658867	Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894121	0.72639	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	.	.	.	5.38	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3075	0.66393	0.0:0.9281:0.0:0.0719	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194658867	1.000000	0.71417	0.991000	0.47740	0.899000	0.52679	7.776000	0.85560	1.396000	0.46663	0.585000	0.79938	.		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Intron	A	196392244	C	A	196392244	5	1	21	1	0	0	0	0	0	0	1	0	8092	695	24	3	2354	3	KCNT2	1	196392244	Splice_Site	SNP	C	TCGA-04-1369-01A-02D-1526-09	10271772	196392244	52858377	9	1116											
GPR25	2848	genome.wustl.edu	37	1	200843065	200843065	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:200843065C>G	ENST00000304244.2	+	1	983	c.900C>G	c.(898-900)agC>agG	p.S300R		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	300					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TCGTCAACAGCTGCGCCAACC	0.731																																																0			1											19	22	21					1																	200843065		2173	4248	6421	199109688	SO:0001583	missense	2848			U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.900C>G	1.37:g.200843065C>G	ENSP00000301917:p.Ser300Arg		199109688	A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930623	0.73327	.	.	ENSG00000170128	ENST00000304244	T	0.79653	-1.29	4.53	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	U	0.001442	D	0.90717	0.7087	H	0.94264	3.515	0.40220	D	0.977723	D	0.89917	1.0	D	0.97110	1.0	D	0.90484	0.4462	10	0.72032	D	0.01	-15.3385	8.3655	0.32385	0.1519:0.7612:0.0:0.0869	.	300	O00155	GPR25_HUMAN	R	300	ENSP00000301917:S300R	ENSP00000301917:S300R	S	+	3	2	GPR25	199109688	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.592000	0.61027	0.854000	0.35336	0.462000	0.41574	AGC		0.731	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		G	200843065	C	G	200843065	3	3	21	1	0	0	0	0	1	0	0	0	6683	796	28	3	902	3	GPR25	1	200843065	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	4450821	200843065	48407556	10	1117											
IL20	50604	genome.wustl.edu	37	1	207039902	207039902	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:207039902C>A	ENST00000367098.1	+	4	662	c.299C>A	c.(298-300)aCc>aAc	p.T100N	IL20_ENST00000391930.2_Missense_Mutation_p.T100N|IL20_ENST00000367096.3_Missense_Mutation_p.T100N			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		AACTACCAGACCCCTGACCAT	0.498																																																0			1											186	196	193					1																	207039902		2203	4300	6503	205106525	SO:0001583	missense	50604			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"Interleukins and interleukin receptors"	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.299C>A	1.37:g.207039902C>A	ENSP00000356065:p.Thr100Asn		205106525	Q14CE5	Missense_Mutation	SNP	ENST00000367098.1	37	CCDS1470.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151834	0.57151	.	.	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	T;T;T	0.56444	0.46;0.46;2.33	5.06	4.13	0.48395	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.404883	0.27031	N	0.021267	T	0.57315	0.2045	L	0.43923	1.385	0.31908	N	0.615128	D;D	0.58970	0.98;0.984	P;P	0.57679	0.731;0.825	T	0.63484	-0.6627	10	0.38643	T	0.18	-5.2677	11.731	0.51737	0.0:0.8219:0.1781:0.0	.	100;100	Q2THG6;Q9NYY1	.;IL20_HUMAN	N	100	ENSP00000356065:T100N;ENSP00000356063:T100N;ENSP00000375796:T100N	ENSP00000356063:T100N	T	+	2	0	IL20	205106525	0.000000	0.05858	0.773000	0.31616	0.822000	0.46500	0.387000	0.20718	1.216000	0.43427	0.655000	0.94253	ACC		0.498	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724		A	207039902	C	A	207039902	3	1	21	1	0	0	0	0	1	0	0	0	7667	507	18	3	309	3	IL20	1	207039902	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	6196837	207039902	42210719	11	1118											
CDC42BPA	8476	genome.wustl.edu	37	1	227192805	227192805	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:227192805C>A	ENST00000366769.3	-	34	6051	c.4760G>T	c.(4759-4761)cGg>cTg	p.R1587L	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1649L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1600L|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1506L|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1559L|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1567L|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1622L	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCCTGAGGCCGAGGGTTCTA	0.453																																																0			1											109	103	105					1																	227192805		2203	4300	6503	225259428	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4760G>T	1.37:g.227192805C>A	ENSP00000355731:p.Arg1587Leu		225259428		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599863	0.46318	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.72942	-0.17;-0.16;-0.7;-0.18;-0.21;-0.17;-0.16	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	N	0.19112	0.55	0.80722	D	1	P;B;B;B;P;P;P	0.49358	0.923;0.056;0.0;0.294;0.849;0.913;0.896	P;B;B;B;B;B;P	0.51266	0.523;0.02;0.001;0.169;0.342;0.342;0.664	T	0.62671	-0.6805	10	0.21540	T	0.41	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	1567;1559;484;1506;1587;1622;851	F5H5N0;Q5VT25-4;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.	L	1587;1506;1649;1622;1559;1567;1600	ENSP00000355731:R1587L;ENSP00000355729:R1506L;ENSP00000335341:R1649L;ENSP00000355728:R1622L;ENSP00000355726:R1559L;ENSP00000443275:R1567L;ENSP00000355727:R1600L	ENSP00000335341:R1649L	R	-	2	0	CDC42BPA	225259428	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.254000	0.78329	2.837000	0.97791	0.591000	0.81541	CGG		0.453	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		A	227192805	C	A	227192805	3	1	21	1	0	0	0	0	1	0	0	0	3072	652	23	3	411	3	CDC42BPA	1	227192805	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	20152903	227192805	22057816	12	1119											
CAPN9	10753	genome.wustl.edu	37	1	230928230	230928230	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr1:230928230A>C	ENST00000271971.2	+	16	1894	c.1781A>C	c.(1780-1782)aAg>aCg	p.K594T	CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.K531T|CAPN9_ENST00000354537.1_Missense_Mutation_p.K568T	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	594	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GACAAGCTGAAGCAGTGGATT	0.522																																																0			1											132	119	124					1																	230928230		2203	4300	6503	228994853	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1781A>C	1.37:g.230928230A>C	ENSP00000271971:p.Lys594Thr		228994853	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024188	0.75390	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.94931	-3.56;-3.56;-3.56	5.13	3.97	0.46021	EF-hand-like domain (1);	0.086147	0.85682	D	0.000000	D	0.96309	0.8796	M	0.78456	2.415	0.49389	D	0.999783	D;D;D	0.65815	0.995;0.983;0.97	P;D;P	0.64144	0.884;0.922;0.838	D	0.95732	0.8775	10	0.66056	D	0.02	.	11.0151	0.47685	0.9244:0.0:0.0755:0.0	.	531;568;594	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	T	594;568;531	ENSP00000271971:K594T;ENSP00000346538:K568T;ENSP00000355626:K531T	ENSP00000271971:K594T	K	+	2	0	CAPN9	228994853	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.542000	0.67218	0.865000	0.35603	0.533000	0.62120	AAG		0.522	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		C	230928230	A	C	230928230	3	2	21	1	0	0	0	0	1	0	0	0	2632	72	3	5	1843	5	CAPN9	1	230928230	Missense_Mutation	SNP	A	TCGA-04-1369-01A-02D-1526-09	3735425	230928230	18322391	13	1120											
TTN	7273	genome.wustl.edu	37	2	179640440	179640440	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr2:179640440T>C	ENST00000591111.1	-	28	6375	c.6151A>G	c.(6151-6153)Aaa>Gaa	p.K2051E	TTN_ENST00000589042.1_Missense_Mutation_p.K2051E|TTN_ENST00000342175.6_Missense_Mutation_p.K2005E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K2051E|TTN_ENST00000460472.2_Missense_Mutation_p.K2005E|TTN_ENST00000359218.5_Missense_Mutation_p.K2005E|TTN_ENST00000360870.5_Missense_Mutation_p.K2051E|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12836					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGAGCTTTCTTTTCCTCT	0.408																																																0			2											160	163	162					2																	179640440		2203	4300	6503	179348685	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6151A>G	2.37:g.179640440T>C	ENSP00000465570:p.Lys2051Glu		179348685	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	6.615	0.481937	0.12581	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67345	-0.26;-0.14;-0.17;-0.18;-0.03	5.33	5.33	0.75918	Ribonuclease H-like (1);	.	.	.	.	T	0.73992	0.3658	L	0.34521	1.04	0.31285	N	0.690186	D;D;D;D;D	0.69078	0.982;0.982;0.982;0.991;0.997	P;P;P;P;D	0.71870	0.591;0.591;0.591;0.787;0.975	T	0.76737	-0.2849	9	0.87932	D	0	.	15.3078	0.74008	0.0:0.0:0.0:1.0	.	2005;2005;2005;2051;2051	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	2051;2005;2005;2005;2005;2051	ENSP00000343764:K2051E;ENSP00000434586:K2005E;ENSP00000340554:K2005E;ENSP00000352154:K2005E;ENSP00000354117:K2051E	ENSP00000340554:K2005E	K	-	1	0	TTN	179348685	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	8.013000	0.88655	2.025000	0.59659	0.533000	0.62120	AAA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179640440	T	C	179640440	3	2	21	1	0	0	0	0	1	0	0	0	16735	1792	62	4	105177	4	TTN	2	179640440	Missense_Mutation	SNP	T	TCGA-04-1369-01A-02D-1526-09		179640440	63558933	14	1121											
ABCA12	26154	genome.wustl.edu	37	2	215802269	215802269	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr2:215802269A>G	ENST00000272895.7	-	51	7726	c.7507T>C	c.(7507-7509)Ttc>Ctc	p.F2503L	ABCA12_ENST00000389661.4_Missense_Mutation_p.F2185L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2503					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGCATGAACTTTGTGAGG	0.433																																					Ovarian(66;664 1488 5121 34295)											0			2											158	144	149					2																	215802269		2203	4300	6503	215510514	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7507T>C	2.37:g.215802269A>G	ENSP00000272895:p.Phe2503Leu		215510514	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.291214	0.80914	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.86769	-2.17;-2.17	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.92071	0.7487	M	0.70275	2.135	0.80722	D	1	B;D	0.63046	0.264;0.992	B;D	0.63703	0.379;0.917	D	0.92489	0.5999	10	0.56958	D	0.05	.	14.8916	0.70614	1.0:0.0:0.0:0.0	.	2503;2185	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	2503;2185	ENSP00000272895:F2503L;ENSP00000374312:F2185L	ENSP00000272895:F2503L	F	-	1	0	ABCA12	215510514	1.000000	0.71417	0.971000	0.41717	0.641000	0.38312	8.887000	0.92456	2.146000	0.66826	0.533000	0.62120	TTC		0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		G	215802269	A	G	215802269	3	3	21	1	0	0	0	0	1	0	0	0	30	43	2	4	292	4	ABCA12	2	215802269	Missense_Mutation	SNP	A	TCGA-04-1369-01A-02D-1526-09	36161829	215802269	27397104	15	1122											
STAG1	10274	genome.wustl.edu	37	3	136152417	136152417	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr3:136152417C>A	ENST00000383202.2	-	16	1887	c.1631G>T	c.(1630-1632)gGa>gTa	p.G544V	STAG1_ENST00000434713.2_Missense_Mutation_p.G318V|STAG1_ENST00000536929.1_Missense_Mutation_p.G128V|STAG1_ENST00000236698.5_Missense_Mutation_p.G544V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	544					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTACCCCTTCCCACTGGAGG	0.378																																																0			3											91	85	87					3																	136152417		2203	4300	6503	137635107	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1631G>T	3.37:g.136152417C>A	ENSP00000372689:p.Gly544Val		137635107	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.850980|4.850980	0.91277|0.91277	.|.	.|.	ENSG00000118007|ENSG00000118007	ENST00000492318|ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.|T;T;T;T	.|0.38240	.|1.61;1.61;1.72;1.15	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Armadillo-type fold (1);	.|0.103999	.|0.64402	.|D	.|0.000003	.|T	.|0.66086	.|0.2754	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.56287	.|0.975;0.867;0.975	.|D;P;D	.|0.66847	.|0.947;0.611;0.947	.|T	.|0.70081	.|-0.4970	.|10	.|0.72032	.|D	.|0.01	.|.	19.7468|19.7468	0.96255|0.96255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|561;544;544	.|Q4LE48;Q6P275;Q8WVM7	.|.;.;STAG1_HUMAN	X|V	155|544;544;318;128	.|ENSP00000372689:G544V;ENSP00000236698:G544V;ENSP00000404396:G318V;ENSP00000445787:G128V	.|ENSP00000236698:G544V	E|G	-|-	1|2	0|0	STAG1|STAG1	137635107|137635107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.678000|2.678000	0.91216|0.91216	0.563000|0.563000	0.77884|0.77884	GAA|GGA		0.378	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		A	136152417	C	A	136152417	3	1	21	1	0	0	0	0	1	0	0	0	15244	855	30	3	2221	3	STAG1	3	136152417	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09		136152417	61870013	16	1123											
USP13	8975	genome.wustl.edu	37	3	179458043	179458043	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr3:179458043G>A	ENST00000263966.3	+	11	1734	c.1263G>A	c.(1261-1263)caG>caA	p.Q421Q	USP13_ENST00000496897.1_Silent_p.Q356Q|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	421	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGCCACAGCAGAACGGGATCT	0.468																																																0			3											80	78	79					3																	179458043		2203	4300	6503	180940737	SO:0001819	synonymous_variant	8975			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1263G>A	3.37:g.179458043G>A			180940737	A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	CCDS3235.1																																																																																				0.468	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			A	179458043	G	A	179458043	2	1	21	1	0	0	0	0	0	0	0	1	17044	933	33	2		2	USP13	3	179458043	Silent	SNP	G	TCGA-04-1369-01A-02D-1526-09	43305626	179458043	18564387	17	1124											
LAMP3	27074	genome.wustl.edu	37	3	182871541	182871541	+	Missense_Mutation	SNP	C	C	T	rs374587489		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr3:182871541C>T	ENST00000265598.3	-	2	943	c.688G>A	c.(688-690)Gtt>Att	p.V230I	LAMP3_ENST00000466939.1_Missense_Mutation_p.V206I	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	230					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CCGTTTAGAACCTGATAAATT	0.522																																																0			3											106	100	102					3																	182871541		2203	4300	6503	184354235	SO:0001583	missense	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.688G>A	3.37:g.182871541C>T	ENSP00000265598:p.Val230Ile		184354235	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454767	0.43634	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.41758	0.99;0.99	5.81	4.94	0.65067	.	0.344015	0.24843	N	0.035154	T	0.34919	0.0914	L	0.48877	1.53	0.19300	N	0.999974	P	0.36753	0.568	B	0.33568	0.166	T	0.30446	-0.9978	10	0.51188	T	0.08	-5.6381	10.8909	0.46994	0.0:0.9141:0.0:0.0859	.	230	Q9UQV4	LAMP3_HUMAN	I	230;206	ENSP00000265598:V230I;ENSP00000418912:V206I	ENSP00000265598:V230I	V	-	1	0	LAMP3	184354235	0.939000	0.31865	0.160000	0.22671	0.016000	0.09150	2.444000	0.44890	1.461000	0.47929	0.655000	0.94253	GTT		0.522	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			T	182871541	C	T	182871541	3	4	21	1	0	0	0	0	1	0	0	0	8619	507	18	2	582	2	LAMP3	3	182871541	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	3413498	182871541	15150889	18	1125											
GABRA2	2555	genome.wustl.edu	37	4	46305614	46305614	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr4:46305614A>T	ENST00000510861.1	-	8	892	c.719T>A	c.(718-720)aTg>aAg	p.M240K	GABRA2_ENST00000356504.1_Missense_Mutation_p.M240K|GABRA2_ENST00000515082.1_Missense_Mutation_p.M240K|GABRA2_ENST00000381620.4_Missense_Mutation_p.M240K|GABRA2_ENST00000514090.1_Missense_Mutation_p.M240K|GABRA2_ENST00000540012.1_Missense_Mutation_p.M185K|GABRA2_ENST00000507069.1_Missense_Mutation_p.M240K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	240					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATGAGCTGTCATTACAGTATA	0.358																																																0			4											80	82	82					4																	46305614		2203	4300	6503	46000371	SO:0001583	missense	2555				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.719T>A	4.37:g.46305614A>T	ENSP00000421828:p.Met240Lys		46000371	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530977	0.85706	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89856	0.6836	M	0.89904	3.07	0.80722	D	1	D;P;D	0.63880	0.987;0.837;0.993	P;P;D	0.79784	0.908;0.562;0.993	D	0.91914	0.5542	10	0.87932	D	0	.	14.923	0.70854	1.0:0.0:0.0:0.0	.	185;240;240	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	K	240;240;240;240;185;240;240	ENSP00000421828:M240K;ENSP00000421300:M240K;ENSP00000371033:M240K;ENSP00000348897:M240K;ENSP00000444409:M185K;ENSP00000427603:M240K;ENSP00000423840:M240K	ENSP00000348897:M240K	M	-	2	0	GABRA2	46000371	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.287000	0.95975	2.172000	0.68678	0.533000	0.62120	ATG		0.358	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			T	46305614	A	T	46305614	3	4	21	1	0	0	0	0	1	0	0	0	6161	217	8	5	648	5	GABRA2	4	46305614	Missense_Mutation	SNP	A	TCGA-04-1369-01A-02D-1526-09		46305614	144848662	19	1126											
SULT1B1	27284	genome.wustl.edu	37	4	70599966	70599966	+	Missense_Mutation	SNP	C	C	G	rs371978235		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr4:70599966C>G	ENST00000310613.3	-	5	689	c.392G>C	c.(391-393)cGt>cCt	p.R131P		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	131					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.R131H(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CTTGGCATTACGAGCCAGATA	0.353																																																1	Substitution - Missense(1)	endometrium(1)	4											28	29	28					4																	70599966		2201	4298	6499	70634555	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.392G>C	4.37:g.70599966C>G	ENSP00000308770:p.Arg131Pro		70634555	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247371	0.39697	.	.	ENSG00000173597	ENST00000310613;ENST00000510821	T;T	0.33438	1.41;1.41	4.67	2.93	0.34026	Sulfotransferase domain (1);	0.000000	0.43919	D	0.000503	T	0.71517	0.3349	H	0.99777	4.77	0.50813	D	0.999897	D	0.89917	1.0	D	0.97110	1.0	T	0.76656	-0.2879	10	0.87932	D	0	.	8.8101	0.34963	0.0:0.8118:0.0:0.1882	.	131	O43704	ST1B1_HUMAN	P	131	ENSP00000308770:R131P;ENSP00000425464:R131P	ENSP00000308770:R131P	R	-	2	0	SULT1B1	70634555	0.999000	0.42202	0.986000	0.45419	0.111000	0.19643	5.201000	0.65163	0.517000	0.28361	-0.384000	0.06662	CGT		0.353	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		G	70599966	C	G	70599966	3	3	21	1	0	0	0	0	1	0	0	0	15376	536	19	3	514	3	SULT1B1	4	70599966	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	24294352	70599966	120554310	20	1127											
SH3D19	152503	genome.wustl.edu	37	4	152095977	152095977	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr4:152095977T>A	ENST00000409252.2	-	6	1246	c.539A>T	c.(538-540)aAg>aTg	p.K180M	SH3D19_ENST00000427414.2_Missense_Mutation_p.K180M|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000424281.1_Missense_Mutation_p.K180M|SH3D19_ENST00000409598.4_Missense_Mutation_p.K180M|SH3D19_ENST00000514152.1_Missense_Mutation_p.K180M|SH3D19_ENST00000455740.1_Missense_Mutation_p.K180M|SH3D19_ENST00000304527.4_Missense_Mutation_p.K180M			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	180	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCCCAGTGACTTGTATGCTTT	0.532																																																0			4											172	190	184					4																	152095977		2203	4300	6503	152315427	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.539A>T	4.37:g.152095977T>A	ENSP00000386848:p.Lys180Met		152315427	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393503	0.42410	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.73047	-0.64;0.0;-0.64;-0.71;-0.71;0.0;-0.64	5.88	4.15	0.48705	.	4.218920	0.00166	N	0.000008	T	0.70885	0.3275	N	0.14661	0.345	0.24546	N	0.994047	D;D;D	0.58620	0.971;0.983;0.983	P;P;P	0.56823	0.526;0.718;0.807	T	0.59429	-0.7456	10	0.59425	D	0.04	-12.7177	8.4661	0.32958	0.0:0.74:0.0:0.26	.	180;180;180	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	M	180	ENSP00000387030:K180M;ENSP00000302913:K180M;ENSP00000416708:K180M;ENSP00000404542:K180M;ENSP00000415694:K180M;ENSP00000386848:K180M;ENSP00000423449:K180M	ENSP00000302913:K180M	K	-	2	0	SH3D19	152315427	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	0.365000	0.20348	0.824000	0.34613	-0.366000	0.07423	AAG		0.532	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		A	152095977	T	A	152095977	3	1	21	1	0	0	0	0	1	0	0	0	14252	1609	56	5	1893	5	SH3D19	4	152095977	Missense_Mutation	SNP	T	TCGA-04-1369-01A-02D-1526-09	81496011	152095977	39058299	21	1128											
CDH9	1007	genome.wustl.edu	37	5	26881489	26881489	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr5:26881489T>C	ENST00000231021.4	-	12	2298	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	709					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TACATCAATATTTTCCCACAG	0.418																																					Melanoma(8;187 585 15745 40864 52829)											0			5											157	150	152					5																	26881489		2203	4300	6503	26917246	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2126A>G	5.37:g.26881489T>C	ENSP00000231021:p.Asn709Ser		26917246	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.721490	0.30503	.	.	ENSG00000113100	ENST00000231021	T	0.75821	-0.97	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.132005	0.64402	D	0.000002	T	0.60495	0.2273	N	0.13168	0.305	0.50171	D	0.999858	B;B	0.25850	0.017;0.136	B;B	0.33960	0.074;0.173	T	0.56691	-0.7937	9	.	.	.	.	13.7586	0.62952	0.0:0.0:0.0:1.0	.	302;709	B4DFP0;Q9ULB4	.;CADH9_HUMAN	S	709	ENSP00000231021:N709S	.	N	-	2	0	CDH9	26917246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.628000	0.83189	1.981000	0.57761	0.455000	0.32223	AAT		0.418	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		C	26881489	T	C	26881489	3	2	21	1	0	0	0	0	1	0	0	0	3117	1493	52	4	247	4	CDH9	5	26881489	Missense_Mutation	SNP	T	TCGA-04-1369-01A-02D-1526-09		26881489	154033771	22	1129											
ACSL6	23305	genome.wustl.edu	37	5	131307292	131307292	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr5:131307292G>A	ENST00000379240.1	-	14	1463	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	ACSL6_ENST00000379255.1_Missense_Mutation_p.P362L|ACSL6_ENST00000357096.1_Missense_Mutation_p.P362L|ACSL6_ENST00000379246.1_Missense_Mutation_p.P448L|ACSL6_ENST00000296869.4_Missense_Mutation_p.P462L|ACSL6_ENST00000379264.2_Missense_Mutation_p.P462L|ACSL6_ENST00000544770.1_Missense_Mutation_p.P346L|ACSL6_ENST00000379244.1_Missense_Mutation_p.P437L|ACSL6_ENST00000379249.3_Missense_Mutation_p.P437L|ACSL6_ENST00000431707.1_Missense_Mutation_p.P417L|ACSL6_ENST00000543479.1_Missense_Mutation_p.P437L|ACSL6_ENST00000379272.2_Missense_Mutation_p.P452L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	437					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGTGATGCTGGGGCTGCTCC	0.527																																																0			5											61	51	55					5																	131307292		2203	4300	6503	131335191	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1310C>T	5.37:g.131307292G>A	ENSP00000368542:p.Pro437Leu		131335191	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	G	26.3	4.722392	0.89298	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	5.94	5.94	0.96194	AMP-dependent synthetase/ligase (1);	0.044629	0.85682	D	0.000000	T	0.58793	0.2147	H	0.98333	4.205	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.982;0.999;0.999;0.994;0.998;0.999;0.999	D;D;D;D;D;D;D	0.75484	0.976;0.985;0.986;0.986;0.976;0.985;0.976	T	0.75172	-0.3411	10	0.87932	D	0	.	20.4237	0.99064	0.0:0.0:1.0:0.0	.	437;452;427;437;362;462;462	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	L	437;462;452;362;362;462;448;437;346;437;417;437	ENSP00000368551:P437L;ENSP00000368566:P462L;ENSP00000368574:P452L;ENSP00000349608:P362L;ENSP00000368557:P362L;ENSP00000296869:P462L;ENSP00000368548:P448L;ENSP00000368546:P437L;ENSP00000445154:P346L;ENSP00000368542:P437L;ENSP00000413329:P417L;ENSP00000442124:P437L	ENSP00000296869:P462L	P	-	2	0	ACSL6	131335191	1.000000	0.71417	0.953000	0.39169	0.433000	0.31745	9.779000	0.99018	2.834000	0.97654	0.650000	0.86243	CCA		0.527	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		A	131307292	G	A	131307292	3	1	21	1	0	0	0	0	1	0	0	0	181	1348	47	2	815	2	ACSL6	5	131307292	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	104425803	131307292	49607968	23	1130											
PCDHGC5	56097	genome.wustl.edu	37	5	140869168	140869168	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr5:140869168G>A	ENST00000252087.1	+	1	361	c.361G>A	c.(361-363)Gta>Ata	p.V121I	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGTAGAGGTAGAGATCCT	0.547																																																0			5											76	77	77					5																	140869168		2203	4300	6503	140849352	SO:0001583	missense	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.361G>A	5.37:g.140869168G>A	ENSP00000252087:p.Val121Ile		140849352	Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	6.830	0.522265	0.13066	.	.	ENSG00000240764	ENST00000252087	T	0.39997	1.05	6.08	4.32	0.51571	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.125029	0.36338	N	0.002650	T	0.33585	0.0868	N	0.14661	0.345	0.42698	D	0.993603	P;P	0.43352	0.804;0.704	P;B	0.47470	0.548;0.346	T	0.08513	-1.0718	10	0.32370	T	0.25	.	12.7438	0.57268	0.1313:0.0:0.8687:0.0	.	121;121	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	I	121	ENSP00000252087:V121I	ENSP00000252087:V121I	V	+	1	0	PCDHGC5	140849352	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	3.438000	0.52871	0.916000	0.36871	-0.768000	0.03414	GTA		0.547	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		A	140869168	G	A	140869168	3	1	21	1	0	0	0	0	1	0	0	0	11571	1261	44	2	363	2	PCDHGC5	5	140869168	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	9561876	140869168	40046092	24	1131											
ZNF454	285676	genome.wustl.edu	37	5	178392373	178392373	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr5:178392373G>T	ENST00000320129.3	+	5	1271	c.968G>T	c.(967-969)aGt>aTt	p.S323I	ZNF454_ENST00000519564.1_Missense_Mutation_p.S323I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	323					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)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AATATCCACAGTGGAGAGAAA	0.388																																																0			5											54	57	56					5																	178392373		2203	4300	6503	178324979	SO:0001583	missense	285676			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.968G>T	5.37:g.178392373G>T	ENSP00000326249:p.Ser323Ile		178324979	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335079	0.24253	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.19105	2.17;2.17	4.11	0.9	0.19278	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.314770	0.23187	N	0.050952	T	0.24005	0.0581	L	0.55834	1.745	0.32477	N	0.542003	P	0.45634	0.863	B	0.44315	0.446	T	0.44390	-0.9331	10	0.87932	D	0	-5.7813	12.9418	0.58350	0.0:0.6411:0.3589:0.0	.	323	Q8N9F8	ZN454_HUMAN	I	323	ENSP00000326249:S323I;ENSP00000430354:S323I	ENSP00000326249:S323I	S	+	2	0	ZNF454	178324979	0.191000	0.23288	0.990000	0.47175	0.038000	0.13279	0.810000	0.27183	0.449000	0.26747	-0.283000	0.09986	AGT		0.388	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		T	178392373	G	T	178392373	3	4	21	1	0	0	0	0	1	0	0	0	17923	1029	36	3	982	3	ZNF454	5	178392373	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	37523205	178392373	2522887	25	1132											
BTN1A1	696	genome.wustl.edu	37	6	26509287	26509287	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:26509287A>G	ENST00000244513.6	+	7	1532	c.1466A>G	c.(1465-1467)cAg>cGg	p.Q489R		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	489						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GCTAATGCCCAGGACCTTTCT	0.552																																																0			6											92	91	91					6																	26509287		2203	4300	6503	26617266	SO:0001583	missense	696			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1466A>G	6.37:g.26509287A>G	ENSP00000244513:p.Gln489Arg		26617266	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	A	0.041	-1.285163	0.01398	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.35789	1.29	5.31	-0.0983	0.13629	.	0.563622	0.16271	N	0.221773	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43669	-0.9377	10	0.16420	T	0.52	.	6.0338	0.19694	0.3625:0.469:0.1684:0.0	.	489	Q13410	BT1A1_HUMAN	R	489;457	ENSP00000244513:Q489R	ENSP00000244513:Q489R	Q	+	2	0	BTN1A1	26617266	0.000000	0.05858	0.395000	0.26283	0.427000	0.31564	-0.159000	0.10056	0.102000	0.17638	-0.291000	0.09656	CAG		0.552	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		G	26509287	A	G	26509287	3	3	21	1	0	0	0	0	1	0	0	0	1559	188	7	4	1492	4	BTN1A1	6	26509287	Missense_Mutation	SNP	A	TCGA-04-1369-01A-02D-1526-09		26509287	144605780	26	1133											
GNL1	2794	genome.wustl.edu	37	6	30522961	30522961	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:30522961G>C	ENST00000376621.3	-	3	1217	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V	PRR3_ENST00000376560.3_5'Flank|PRR3_ENST00000376557.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	83					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCAAAATGCAGTCGGTATCTA	0.517																																																0			6											300	342	327					6																	30522961		1511	2709	4220	30630940	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.247C>G	6.37:g.30522961G>C	ENSP00000365806:p.Leu83Val		30630940	B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513198	0.64522	.	.	ENSG00000204590	ENST00000376621;ENST00000433809	T	0.50813	0.73	5.61	2.85	0.33270	.	0.000000	0.64402	D	0.000001	T	0.56202	0.1969	M	0.79123	2.44	0.52099	D	0.999947	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.981	T	0.58819	-0.7569	10	0.42905	T	0.14	-5.9944	11.1321	0.48354	0.2192:0.0:0.7808:0.0	.	81;83	B4DYK6;P36915	.;GNL1_HUMAN	V	83;81	ENSP00000365806:L83V	ENSP00000365806:L83V	L	-	1	2	GNL1	30630940	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	3.366000	0.52343	0.857000	0.35407	-0.136000	0.14681	CTG		0.517	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			C	30522961	G	C	30522961	3	2	21	1	0	0	0	0	1	0	0	0	6535	1020	36	3	1616	3	GNL1	6	30522961	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	4013674	30522961	140592106	27	1134											
LY6G6C	80740	genome.wustl.edu	37	6	31687061	31687061	+	Missense_Mutation	SNP	G	G	A	rs143912436	byFrequency	TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:31687061G>A	ENST00000375819.2	-	3	355	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	LY6G6C_ENST00000495859.1_Missense_Mutation_p.R8C	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	64	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GTGCCACAGCGCAGATTGGAG	0.577																																																0			6							CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	126	114	118		190	3.1	1	6	dbSNP_134	118	0,8600		0,0,4300	no	missense	LY6G6C	NM_025261.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	64/126	31687061	1,13005	2203	4300	6503	31795040	SO:0001583	missense	80740				CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.190C>T	6.37:g.31687061G>A	ENSP00000364978:p.Arg64Cys		31795040	Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	g	18.97	3.735905	0.69189	2.27E-4	0.0	ENSG00000204421	ENST00000495859;ENST00000375819	D;D	0.90385	-2.66;-2.66	5.03	3.14	0.36123	.	0.620904	0.14469	N	0.317715	D	0.82508	0.5052	N	0.19112	0.55	0.29847	N	0.828714	D	0.69078	0.997	P	0.53401	0.725	T	0.77101	-0.2712	10	0.56958	D	0.05	-10.4404	11.8308	0.52295	0.0:0.3375:0.6625:0.0	.	64	O95867	LY66C_HUMAN	C	8;64	ENSP00000433207:R8C;ENSP00000364978:R64C	ENSP00000364978:R64C	R	-	1	0	LY6G6C	31795040	0.998000	0.40836	0.998000	0.56505	0.971000	0.66376	1.900000	0.39828	1.116000	0.41820	0.466000	0.42574	CGC		0.577	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			A	31687061	G	A	31687061	3	1	21	1	0	0	0	0	1	0	0	0	9094	1087	38	1	191	1	LY6G6C	6	31687061	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	1164100	31687061	139428006	28	1135											
PGC	5225	genome.wustl.edu	37	6	41712155	41712155	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:41712155T>G	ENST00000373025.3	-	3	370	c.308A>C	c.(307-309)tAc>tCc	p.Y103S	PGC_ENST00000425343.2_Missense_Mutation_p.Y103S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	103					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCTCTGGCAGTAGACAGAGGG	0.607																																																0			6											61	63	62					6																	41712155		2203	4300	6503	41820133	SO:0001583	missense	5225				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.308A>C	6.37:g.41712155T>G	ENSP00000362116:p.Tyr103Ser		41820133	B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.694581	0.30052	.	.	ENSG00000096088	ENST00000373025;ENST00000425343	T;T	0.56275	0.47;0.47	4.51	4.51	0.55191	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.439314	0.23074	N	0.052227	T	0.34483	0.0899	L	0.49778	1.585	0.31398	N	0.677011	P	0.37594	0.601	B	0.41174	0.349	T	0.36841	-0.9731	10	0.56958	D	0.05	.	9.9414	0.41583	0.1521:0.0:0.0:0.8479	.	103	P20142	PEPC_HUMAN	S	103	ENSP00000362116:Y103S;ENSP00000405094:Y103S	ENSP00000362116:Y103S	Y	-	2	0	PGC	41820133	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	4.349000	0.59385	1.897000	0.54924	0.477000	0.44152	TAC		0.607	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			G	41712155	T	G	41712155	3	3	21	1	0	0	0	0	1	0	0	0	11785	1638	57	5	1195	5	PGC	6	41712155	Missense_Mutation	SNP	T	TCGA-04-1369-01A-02D-1526-09	10025094	41712155	129402912	29	1136											
RAB23	51715	genome.wustl.edu	37	6	57055298	57055298	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:57055298C>G	ENST00000317483.3	-	7	1294	c.675G>C	c.(673-675)aaG>aaC	p.K225N	RAB23_ENST00000468148.1_Missense_Mutation_p.K225N	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	225				K -> N (in Ref. 3; AAF29101). {ECO:0000305}.	autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTGTTTTTCTTGGTCCTTT	0.408																																																0			6											211	197	201					6																	57055298		2203	4300	6503	57163257	SO:0001583	missense	51715			AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"RAB, member RAS oncogene"	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.675G>C	6.37:g.57055298C>G	ENSP00000320413:p.Lys225Asn		57163257	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	37	CCDS4962.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324011	0.60634	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	T;T	0.66099	-0.19;-0.19	5.79	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	L	0.27053	0.805	0.80722	D	1	B	0.27380	0.177	B	0.20384	0.029	T	0.36529	-0.9744	10	0.56958	D	0.05	-0.8413	16.2758	0.82642	0.1337:0.8663:0.0:0.0	.	225	Q9ULC3	RAB23_HUMAN	N	225	ENSP00000320413:K225N;ENSP00000417610:K225N	ENSP00000320413:K225N	K	-	3	2	RAB23	57163257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	1.445000	0.47624	0.462000	0.41574	AAG		0.408	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1			G	57055298	C	G	57055298	3	3	21	1	0	0	0	0	1	0	0	0	12913	912	32	3	42	3	RAB23	6	57055298	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	15343143	57055298	114059769	30	1137											
HTR1E	3354	genome.wustl.edu	37	6	87725197	87725197	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:87725197A>C	ENST00000305344.5	+	2	848	c.145A>C	c.(145-147)Acc>Ccc	p.T49P		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	49					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GGCTATTGGCACCACCAAGAA	0.542																																																0			6											179	137	151					6																	87725197		2203	4300	6503	87781916	SO:0001583	missense	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.145A>C	6.37:g.87725197A>C	ENSP00000307766:p.Thr49Pro		87781916	E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518677	0.44763	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.38560	1.13;1.13	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000010	T	0.56514	0.1990	M	0.87971	2.92	0.36860	D	0.888348	D	0.55172	0.97	P	0.61132	0.884	T	0.66333	-0.5950	10	0.52906	T	0.07	.	13.8983	0.63787	1.0:0.0:0.0:0.0	.	49	P28566	5HT1E_HUMAN	P	49	ENSP00000307766:T49P;ENSP00000358597:T49P	ENSP00000307766:T49P	T	+	1	0	HTR1E	87781916	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.495000	0.66912	1.746000	0.51805	0.416000	0.27883	ACC		0.542	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		C	87725197	A	C	87725197	3	2	21	1	0	0	0	0	1	0	0	0	7439	159	6	5	147	5	HTR1E	6	87725197	Missense_Mutation	SNP	A	TCGA-04-1369-01A-02D-1526-09	30669899	87725197	83389870	31	1138											
PDE10A	10846	genome.wustl.edu	37	6	165752848	165752848	+	Splice_Site	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr6:165752848C>A	ENST00000366882.1	-	21	2222		c.e21-1		PDE10A_ENST00000539869.2_Splice_Site|PDE10A_ENST00000354448.4_Splice_Site			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						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)			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)	TTTCATCACCCTAAGATGAAT	0.328																																					Esophageal Squamous(22;308 615 5753 12038 40624)											0			6											102	103	103					6																	165752848		2203	4300	6503	165672838	SO:0001630	splice_region_variant	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.2068-1G>T	6.37:g.165752848C>A			165672838	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Splice_Site	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	C	18.07	3.541482	0.65085	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE10A	165672838	1.000000	0.71417	0.927000	0.36925	0.625000	0.37756	7.007000	0.76335	2.749000	0.94314	0.655000	0.94253	.		0.328	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		Intron	A	165752848	C	A	165752848	5	1	21	1	0	0	0	0	0	0	1	0	11630	695	24	3	284	3	PDE10A	6	165752848	Splice_Site	SNP	C	TCGA-04-1369-01A-02D-1526-09	78027651	165752848	5362219	32	1139											
SLC13A1	6561	genome.wustl.edu	37	7	122768992	122768992	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr7:122768992T>C	ENST00000194130.2	-	10	1079	c.1040A>G	c.(1039-1041)gAa>gGa	p.E347G	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	347					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGTCACAATTTCTTGATACCT	0.418																																																0			7											69	61	63					7																	122768992		2203	4300	6503	122556228	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1040A>G	7.37:g.122768992T>C	ENSP00000194130:p.Glu347Gly		122556228	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686205	0.88639	.	.	ENSG00000081800	ENST00000194130	T	0.05447	3.44	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51140	-0.8743	10	0.87932	D	0	0.0243	15.4921	0.75615	0.0:0.0:0.0:1.0	.	347;347	A4D0X1;Q9BZW2	.;S13A1_HUMAN	G	347	ENSP00000194130:E347G	ENSP00000194130:E347G	E	-	2	0	SLC13A1	122556228	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.663000	0.74431	2.257000	0.74773	0.460000	0.39030	GAA		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		C	122768992	T	C	122768992	3	2	21	1	0	0	0	0	1	0	0	0	14394	1783	62	4	771	4	SLC13A1	7	122768992	Missense_Mutation	SNP	T	TCGA-04-1369-01A-02D-1526-09		122768992	36369671	33	1140											
ASB10	136371	genome.wustl.edu	37	7	150878445	150878445	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr7:150878445C>A	ENST00000420175.2	-	3	709	c.685G>T	c.(685-687)Gag>Tag	p.E229*	ASB10_ENST00000422024.1_Nonsense_Mutation_p.E274*|ASB10_ENST00000434669.1_Nonsense_Mutation_p.E274*|ASB10_ENST00000275838.1_Nonsense_Mutation_p.E229*|ASB10_ENST00000377867.3_Nonsense_Mutation_p.E214*			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	229					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGCCAGCTCCACATGGCCA	0.637																																																0			7											32	32	32					7																	150878445		2202	4299	6501	150509378	SO:0001587	stop_gained	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.685G>T	7.37:g.150878445C>A	ENSP00000391137:p.Glu229*		150509378	A0AVH0|Q6ZUL6	Nonsense_Mutation	SNP	ENST00000420175.2	37	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	39	7.405736	0.98265	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	.	.	.	5.14	5.14	0.70334	.	0.432396	0.25338	N	0.031382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.6237	13.672	0.62432	0.0:0.8452:0.1548:0.0	.	.	.	.	X	229;214;274;274;229	.	ENSP00000275838:E229X	E	-	1	0	ASB10	150509378	0.913000	0.31002	0.982000	0.44146	0.981000	0.71138	4.588000	0.60999	2.549000	0.85964	0.655000	0.94253	GAG		0.637	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		A	150878445	C	A	150878445	4	1	21	1	0	0	0	0	0	1	0	0	1014	864	30	3	730	3	ASB10	7	150878445	Nonsense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	28109453	150878445	8260218	34	1141											
MLL3	58508	genome.wustl.edu	37	7	151859421	151859421	+	Silent	SNP	G	G	A	rs145379616		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr7:151859421G>A	ENST00000262189.6	-	43	11459	c.11241C>T	c.(11239-11241)aaC>aaT	p.N3747N	KMT2C_ENST00000355193.2_Silent_p.N3747N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3747					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGCTACAGCGTTTCCTTCTA	0.507																																																0			7						G		1,4405	2.1+/-5.4	0,1,2202	111	111	111		11241	-11	0	7	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	MLL3	NM_170606.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3747/4912	151859421	1,13005	2203	4300	6503	151490354	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11241C>T	7.37:g.151859421G>A			151490354	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	5.106	0.205255	0.09704	2.27E-4	0.0	ENSG00000055609	ENST00000360104	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.09271	-1.0682	4	.	.	.	.	3.8624	0.09002	0.08:0.309:0.2894:0.3217	.	.	.	.	C	1253	.	.	R	-	1	0	MLL3	151490354	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-1.175000	0.03102	-2.091000	0.00858	-0.247000	0.11927	CGC		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151859421	G	A	151859421	2	1	21	1	0	0	0	0	0	0	0	1	9622	1136	40	1		1	MLL3	7	151859421	Silent	SNP	G	TCGA-04-1369-01A-02D-1526-09	980976	151859421	7279242	35	1142											
CNGB3	54714	genome.wustl.edu	37	8	87644981	87644981	+	Splice_Site	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr8:87644981T>C	ENST00000320005.5	-	11	1366	c.1319A>G	c.(1318-1320)cAg>cGg	p.Q440R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	440					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCAGCTTACCTGACCAATTAA	0.348																																																0			8											44	47	46					8																	87644981		2202	4299	6501	87714097	SO:0001630	splice_region_variant	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1320+1A>G	8.37:g.87644981T>C			87714097	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524604	0.85600	.	.	ENSG00000170289	ENST00000320005	D	0.97328	-4.34	5.12	5.12	0.69794	.	0.064553	0.64402	D	0.000008	D	0.98425	0.9476	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.994;0.995	D	0.99560	1.0968	10	0.72032	D	0.01	.	15.2136	0.73247	0.0:0.0:0.0:1.0	.	440;440	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	R	440	ENSP00000316605:Q440R	ENSP00000316605:Q440R	Q	-	2	0	CNGB3	87714097	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.997000	0.88414	2.056000	0.61249	0.482000	0.46254	CAG		0.348	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	Missense_Mutation	C	87644981	T	C	87644981	5	2	21	1	0	0	0	0	0	0	1	0	3601	1594	55	4	1142	4	CNGB3	8	87644981	Splice_Site	SNP	T	TCGA-04-1369-01A-02D-1526-09		87644981	58719041	36	1143											
NFKBIL2	4796	genome.wustl.edu	37	8	145665428	145665428	+	Missense_Mutation	SNP	C	C	A	rs565607454		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr8:145665428C>A	ENST00000409379.3	-	11	1485	c.1456G>T	c.(1456-1458)Ggc>Tgc	p.G486C	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	486	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TCCACCTCGCCGGCCTCCAGG	0.662																																																0			8											22	24	23					8																	145665428		2200	4294	6494	145636236	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1456G>T	8.37:g.145665428C>A	ENSP00000386239:p.Gly486Cys		145636236	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	9.288	1.049841	0.19827	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.46063	0.88	5.7	4.54	0.55810	.	0.162277	0.64402	D	0.000002	T	0.24122	0.0584	N	0.08118	0	0.22754	N	0.998777	B	0.28820	0.224	B	0.31869	0.137	T	0.16928	-1.0386	10	0.38643	T	0.18	-1.3938	9.799	0.40753	0.0:0.0817:0.0:0.9183	.	486	Q96HA7	TONSL_HUMAN	C	486	ENSP00000386239:G486C	ENSP00000386239:G486C	G	-	1	0	TONSL	145636236	0.928000	0.31464	0.104000	0.21259	0.029000	0.11900	1.952000	0.40343	1.005000	0.39183	-0.238000	0.12139	GGC		0.662	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		A	145665428	C	A	145665428	3	1	21	1	0	0	0	0	1	0	0	0	10382	652	23	3	2744	3	NFKBIL2	8	145665428	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	58020447	145665428	698594	37	1144											
DMRT1	1761	genome.wustl.edu	37	9	916902	916902	+	Missense_Mutation	SNP	C	C	A	rs143383634		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr9:916902C>A	ENST00000382276.3	+	4	1111	c.962C>A	c.(961-963)gCg>gAg	p.A321E	DMRT1_ENST00000569227.1_Missense_Mutation_p.A163E	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	321					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GAAGCCAGGGCGAGCGGTAGG	0.532																																																0			9											80	69	73					9																	916902		2203	4300	6503	906902	SO:0001583	missense	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.962C>A	9.37:g.916902C>A	ENSP00000371711:p.Ala321Glu		906902	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474379	0.26423	.	.	ENSG00000137090	ENST00000382276	T	0.36340	1.26	5.44	4.55	0.56014	.	2.630790	0.01150	N	0.006382	T	0.55033	0.1895	M	0.86268	2.805	0.38074	D	0.936473	P	0.44877	0.845	P	0.44477	0.451	T	0.49466	-0.8937	10	0.37606	T	0.19	.	13.1186	0.59313	0.0:0.9256:0.0:0.0744	.	321	Q9Y5R6	DMRT1_HUMAN	E	321	ENSP00000371711:A321E	ENSP00000371711:A321E	A	+	2	0	DMRT1	906902	0.671000	0.27521	0.302000	0.25058	0.004000	0.04260	1.221000	0.32503	1.446000	0.47643	-0.126000	0.14955	GCG		0.532	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		A	916902	C	A	916902	3	1	21	1	0	0	0	0	1	0	0	0	4585	768	27	3	976	3	DMRT1	9	916902	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09		916902	140296529	38	1145											
CNTNAP3	79937	genome.wustl.edu	37	9	39100025	39100025	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr9:39100025C>G	ENST00000297668.6	-	18	2951	c.2878G>C	c.(2878-2880)Gga>Cga	p.G960R	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G872R|CNTNAP3_ENST00000377656.2_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	960					cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGCAGTGTCCTGCACACCCT	0.572																																																0			9											4	4	4					9																	39100025		2113	4110	6223	39090025	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2878G>C	9.37:g.39100025C>G	ENSP00000297668:p.Gly960Arg		39090025	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.179775	0.78564	.	.	ENSG00000106714	ENST00000297668;ENST00000358144	D;D	0.87491	-2.26;-2.26	3.68	3.68	0.42216	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92815	0.7715	M	0.79475	2.455	0.80722	D	1	D;P	0.89917	1.0;0.898	D;P	0.87578	0.998;0.642	D	0.93834	0.7130	9	0.87932	D	0	.	14.5437	0.68013	0.0:1.0:0.0:0.0	.	960;960	Q9BZ76-2;Q9BZ76	.;CNTP3_HUMAN	R	960;872	ENSP00000297668:G960R;ENSP00000350863:G872R	ENSP00000297668:G960R	G	-	1	0	CNTNAP3	39090025	1.000000	0.71417	0.251000	0.24312	0.947000	0.59692	6.761000	0.74945	2.035000	0.60131	0.485000	0.47835	GGA		0.572	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		G	39100025	C	G	39100025	3	3	21	1	0	0	0	0	1	0	0	0	3648	690	24	3	1016	3	CNTNAP3	9	39100025	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	38183123	39100025	102113406	39	1146											
INVS	27130	genome.wustl.edu	37	9	102866879	102866879	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr9:102866879G>A	ENST00000262457.2	+	2	261	c.76G>A	c.(76-78)Gat>Aat	p.D26N	INVS_ENST00000460636.2_3'UTR|INVS_ENST00000374921.3_Missense_Mutation_p.D26N|INVS_ENST00000541287.1_5'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.D26N|RN7SL75P_ENST00000461926.2_RNA	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	26					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CGTTAATGGAGATAAGGGTGC	0.443																																																0			9											117	98	104					9																	102866879		2203	4300	6503	101906700	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.76G>A	9.37:g.102866879G>A	ENSP00000262457:p.Asp26Asn		101906700	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237131	0.39498	.	.	ENSG00000119509	ENST00000262457;ENST00000262456;ENST00000374921	T;T;T	0.64260	-0.05;-0.05;-0.09	5.49	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.045826	0.85682	N	0.000000	T	0.37046	0.0989	N	0.10707	0.03	0.80722	D	1	B;B	0.21452	0.039;0.056	B;B	0.21708	0.036;0.034	T	0.14699	-1.0463	10	0.15499	T	0.54	.	8.183	0.31322	0.0854:0.1575:0.757:0.0	.	26;26	Q9Y283;Q9Y283-2	INVS_HUMAN;.	N	26	ENSP00000262457:D26N;ENSP00000262456:D26N;ENSP00000364056:D26N	ENSP00000262456:D26N	D	+	1	0	INVS	101906700	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.134000	0.57990	1.293000	0.44690	0.563000	0.77884	GAT		0.443	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		A	102866879	G	A	102866879	3	1	21	1	0	0	0	0	1	0	0	0	7787	942	33	2	78	2	INVS	9	102866879	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	63766854	102866879	38346552	40	1147											
COL27A1	85301	genome.wustl.edu	37	9	117054448	117054448	+	Silent	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr9:117054448G>T	ENST00000356083.3	+	49	4933	c.4542G>T	c.(4540-4542)ggG>ggT	p.G1514G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1514	Collagen-like 15.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAGAACGGGGCTCCCTGGAA	0.562																																																0			9											33	30	31					9																	117054448		2184	4270	6454	116094269	SO:0001819	synonymous_variant	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4542G>T	9.37:g.117054448G>T			116094269	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																				0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117054448	G	T	117054448	2	4	21	1	0	0	0	0	0	0	0	1	3685	1190	42	3		3	COL27A1	9	117054448	Silent	SNP	G	TCGA-04-1369-01A-02D-1526-09	14187569	117054448	24158983	41	1148											
MUC6	4588	genome.wustl.edu	37	11	1016890	1016890	+	Missense_Mutation	SNP	G	G	A	rs113508205		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:1016890G>A	ENST00000421673.2	-	31	5961	c.5911C>T	c.(5911-5913)Cca>Tca	p.P1971S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1971	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGTAGGTGGGGAGTGTGTG	0.592																																																0			11											1028	1042	1037					11																	1016890		2203	4298	6501	1006890	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5911C>T	11.37:g.1016890G>A	ENSP00000406861:p.Pro1971Ser		1006890	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358370	0.41801	.	.	ENSG00000184956	ENST00000421673	T	0.11495	2.77	3.08	-6.16	0.02098	.	.	.	.	.	T	0.04952	0.0133	L	0.41710	1.295	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.49312	-0.8953	9	0.06365	T	0.9	.	0.1675	0.00110	0.2756:0.1654:0.1977:0.3614	.	1971	Q6W4X9	MUC6_HUMAN	S	1971	ENSP00000406861:P1971S	ENSP00000406861:P1971S	P	-	1	0	MUC6	1006890	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-6.290000	0.00072	-1.753000	0.01323	0.306000	0.20318	CCA		0.592	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1016890	G	A	1016890	3	1	21	1	0	0	0	0	1	0	0	0	9980	1232	43	2	1420	2	MUC6	11	1016890	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09		1016890	133989626	42	1149											
OR10A3	26496	genome.wustl.edu	37	11	7961026	7961026	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:7961026G>A	ENST00000360759.3	-	1	115	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	14					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAAGCCCAGGAGGATGAATT	0.398																																																0			11											65	68	67					11																	7961026		2201	4296	6497	7917602	SO:0001819	synonymous_variant	26496			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.42C>T	11.37:g.7961026G>A			7917602	B9EH39|Q6IF58|Q96R11	Silent	SNP	ENST00000360759.3	37	CCDS31421.1																																																																																				0.398	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		A	7961026	G	A	7961026	2	1	21	1	0	0	0	0	0	0	0	1	10891	1161	41	2		2	OR10A3	11	7961026	Silent	SNP	G	TCGA-04-1369-01A-02D-1526-09	6944136	7961026	127045490	43	1150											
OR8H1	219469	genome.wustl.edu	37	11	56057993	56057993	+	Silent	SNP	T	T	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:56057993T>G	ENST00000313022.2	-	1	573	c.546A>C	c.(544-546)ccA>ccC	p.P182P		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGCTAAAATTGGAGACGTGT	0.418																																																0			11											121	109	113					11																	56057993		2201	4296	6497	55814569	SO:0001819	synonymous_variant	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.546A>C	11.37:g.56057993T>G			55814569	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1																																																																																				0.418	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		G	56057993	T	G	56057993	2	3	21	1	0	0	0	0	0	0	0	1	11237	1799	63	5		5	OR8H1	11	56057993	Silent	SNP	T	TCGA-04-1369-01A-02D-1526-09	48096967	56057993	78948523	44	1151											
OR9I1	219954	genome.wustl.edu	37	11	57886624	57886624	+	Missense_Mutation	SNP	G	G	A	rs147846129		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:57886624G>A	ENST00000302610.1	-	1	292	c.293C>T	c.(292-294)gCt>gTt	p.A98V	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GAACTGGGCAGCACAGTGGCC	0.547																																																0			11						G	VAL/ALA	2,4400	4.2+/-10.8	0,2,2199	92	77	82		293	4.2	1	11	dbSNP_134	82	0,8592		0,0,4296	no	missense	OR9I1	NM_001005211.1	64	0,2,6495	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	98/315	57886624	2,12992	2201	4296	6497	57643200	SO:0001583	missense	219954			AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.293C>T	11.37:g.57886624G>A	ENSP00000302606:p.Ala98Val		57643200	Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125029	0.20959	4.54E-4	0.0	ENSG00000172377	ENST00000302610	T	0.00376	7.7	5.06	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000187	T	0.00552	0.0018	L	0.39633	1.23	0.29901	N	0.824439	D	0.89917	1.0	D	0.87578	0.998	T	0.56673	-0.7940	10	0.44086	T	0.13	-17.9764	8.451	0.32871	0.0819:0.157:0.7611:0.0	.	98	Q8NGQ6	OR9I1_HUMAN	V	98	ENSP00000302606:A98V	ENSP00000302606:A98V	A	-	2	0	OR9I1	57643200	0.000000	0.05858	1.000000	0.80357	0.082000	0.17680	0.930000	0.28858	1.498000	0.48600	0.467000	0.42956	GCT		0.547	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		A	57886624	G	A	57886624	3	1	21	1	0	0	0	0	1	0	0	0	11253	971	34	2	655	2	OR9I1	11	57886624	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	1828631	57886624	77119892	45	1152											
MTA2	9219	genome.wustl.edu	37	11	62364298	62364298	+	Splice_Site	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:62364298C>G	ENST00000278823.2	-	9	1083		c.e9-1		MTA2_ENST00000524902.1_Splice_Site|MTA2_ENST00000527204.1_Splice_Site	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2						ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TGGCGTGAAACTATGGGGAAG	0.592																																																0			11											62	57	59					11																	62364298		2202	4299	6501	62120874	SO:0001630	splice_region_variant	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.694-1G>C	11.37:g.62364298C>G			62120874	Q68DB1|Q9UQB5	Splice_Site	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131298	0.37630	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1526	0.81632	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTA2	62120874	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	7.686000	0.84128	2.482000	0.83794	0.462000	0.41574	.		0.592	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739	Intron	G	62364298	C	G	62364298	5	3	21	1	0	0	0	0	0	0	1	0	9909	579	20	3	1353	3	MTA2	11	62364298	Splice_Site	SNP	C	TCGA-04-1369-01A-02D-1526-09	4477674	62364298	72642218	46	1153											
PDE2A	5138	genome.wustl.edu	37	11	72289292	72289292	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:72289292G>A	ENST00000334456.5	-	30	2845	c.2600C>T	c.(2599-2601)gCa>gTa	p.A867V	PDE2A_ENST00000418754.2_Missense_Mutation_p.A752V|PDE2A_ENST00000376450.3_Missense_Mutation_p.A611V|PDE2A_ENST00000444035.2_Missense_Mutation_p.A858V|PDE2A_ENST00000540345.1_Missense_Mutation_p.A858V|PDE2A_ENST00000544570.1_Missense_Mutation_p.A860V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	867	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GATGGGCATTGCAATGTGCTC	0.562																																																0			11											199	162	174					11																	72289292		2200	4293	6493	71966940	SO:0001583	missense	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2600C>T	11.37:g.72289292G>A	ENSP00000334910:p.Ala867Val		71966940	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751147	0.69533	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.59	5.59	0.84812	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	N	0.11341	0.13	0.80722	D	1	P;B;P;P;B;B	0.48589	0.79;0.002;0.803;0.912;0.002;0.099	B;B;B;B;B;B	0.33196	0.127;0.008;0.149;0.159;0.008;0.021	T	0.60362	-0.7278	10	0.49607	T	0.09	.	18.169	0.89739	0.0:0.0:1.0:0.0	.	752;867;858;860;867;611	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	V	867;611;858;936;860;752;858	ENSP00000334910:A867V;ENSP00000365633:A611V;ENSP00000411657:A858V;ENSP00000442256:A860V;ENSP00000410310:A752V;ENSP00000446399:A858V	ENSP00000334910:A867V	A	-	2	0	PDE2A	71966940	1.000000	0.71417	0.649000	0.29536	0.951000	0.60555	9.579000	0.98204	2.630000	0.89119	0.511000	0.50034	GCA		0.562	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		A	72289292	G	A	72289292	3	1	21	1	0	0	0	0	1	0	0	0	11636	1319	46	2	233	2	PDE2A	11	72289292	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	9924994	72289292	62717224	47	1154											
NAALAD2	10003	genome.wustl.edu	37	11	89909192	89909192	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr11:89909192G>C	ENST00000534061.1	+	15	1785	c.1555G>C	c.(1555-1557)Gga>Cga	p.G519R	NAALAD2_ENST00000321955.4_Missense_Mutation_p.G486R|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	519	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCAGAGACTTGGAATTGCTTC	0.378																																																0			11											109	100	103					11																	89909192		2201	4299	6500	89548840	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1555G>C	11.37:g.89909192G>C	ENSP00000432481:p.Gly519Arg		89548840	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816510	0.90790	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.61392	0.11;0.11	5.56	5.56	0.83823	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89247	0.3588	9	.	.	.	-20.127	19.5794	0.95459	0.0:0.0:1.0:0.0	.	519	Q9Y3Q0	NALD2_HUMAN	R	519;486	ENSP00000432481:G519R;ENSP00000320083:G486R	.	G	+	1	0	NAALAD2	89548840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.903000	0.92573	2.630000	0.89119	0.650000	0.86243	GGA		0.378	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		C	89909192	G	C	89909192	3	2	21	1	0	0	0	0	1	0	0	0	10128	1349	47	3	1613	3	NAALAD2	11	89909192	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	17619900	89909192	45097324	48	1155											
CLSTN3	9746	genome.wustl.edu	37	12	7301637	7301637	+	Silent	SNP	C	C	T	rs144078453		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:7301637C>T	ENST00000266546.6	+	13	2367	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	CLSTN3_ENST00000537408.1_Silent_p.D651D	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	639					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TTCAGCCTGACGCCCCCCAGA	0.562																																																0			12						C		0,4406		0,0,2203	90	71	77		1917	-7.7	0.3	12	dbSNP_134	77	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CLSTN3	NM_014718.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		639/957	7301637	3,13003	2203	4300	6503	7192904	SO:0001819	synonymous_variant	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1917C>T	12.37:g.7301637C>T			7192904	D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	CCDS8575.1																																																																																				0.562	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		T	7301637	C	T	7301637	2	4	21	1	0	0	0	0	0	0	0	1	3563	535	19	1		1	CLSTN3	12	7301637	Silent	SNP	C	TCGA-04-1369-01A-02D-1526-09		7301637	126550258	49	1156											
LRP6	4040	genome.wustl.edu	37	12	12311941	12311941	+	Silent	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:12311941G>T	ENST00000261349.4	-	12	2689	c.2613C>A	c.(2611-2613)ggC>ggA	p.G871G	LRP6_ENST00000543091.1_Silent_p.G871G	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	871	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATCCAAATGGCCCTGAATGA	0.507																																																0			12											238	165	190					12																	12311941		2203	4300	6503	12203208	SO:0001819	synonymous_variant	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2613C>A	12.37:g.12311941G>T			12203208	Q17RZ2	Silent	SNP	ENST00000261349.4	37	CCDS8647.1																																																																																				0.507	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			T	12311941	G	T	12311941	2	4	21	1	0	0	0	0	0	0	0	1	8962	1190	42	3		3	LRP6	12	12311941	Silent	SNP	G	TCGA-04-1369-01A-02D-1526-09	5010304	12311941	121539954	50	1157											
SLCO1C1	53919	genome.wustl.edu	37	12	20885993	20885993	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:20885993G>C	ENST00000266509.2	+	10	1705	c.1337G>C	c.(1336-1338)gGc>gCc	p.G446A	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G446A|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G446A|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G397A|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G328A	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	446					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTTGCACTGGGCTGTGAAAAT	0.383																																																0			12											191	171	178					12																	20885993		2203	4300	6503	20777260	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1337G>C	12.37:g.20885993G>C	ENSP00000266509:p.Gly446Ala		20777260	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121721	0.37436	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;1.01	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051465	0.85682	D	0.000000	T	0.71039	0.3293	M	0.83692	2.655	0.80722	D	1	D;P;B;B	0.55172	0.97;0.774;0.417;0.417	P;P;B;B	0.56700	0.804;0.593;0.261;0.345	T	0.73222	-0.4051	10	0.44086	T	0.13	.	18.7166	0.91678	0.0:0.0:1.0:0.0	.	328;397;446;446	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	A	446;397;446;446;328	ENSP00000444149:G446A;ENSP00000438665:G397A;ENSP00000266509:G446A;ENSP00000370964:G446A;ENSP00000444527:G328A	ENSP00000266509:G446A	G	+	2	0	SLCO1C1	20777260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.641000	0.89580	0.591000	0.81541	GGC		0.383	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		C	20885993	G	C	20885993	3	2	21	1	0	0	0	0	1	0	0	0	14728	1203	42	3	1371	3	SLCO1C1	12	20885993	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	8574052	20885993	112965902	51	1158											
IFLTD1	160492	genome.wustl.edu	37	12	25672985	25672985	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:25672985G>T	ENST00000282881.6	-	6	909	c.760C>A	c.(760-762)Cac>Aac	p.H254N	IFLTD1_ENST00000458174.2_Missense_Mutation_p.H275N|IFLTD1_ENST00000539744.1_Missense_Mutation_p.H157N|IFLTD1_ENST00000413632.2_Missense_Mutation_p.H235N|IFLTD1_ENST00000445693.1_Missense_Mutation_p.H191N	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		254	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGCTTCCAGTGGATAGGGGTG	0.383																																																0			12											87	73	78					12																	25672985		2203	4300	6503	25564252	SO:0001583	missense	160492																														ENST00000282881.6:c.760C>A	12.37:g.25672985G>T	ENSP00000282881:p.His254Asn		25564252	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.62|15.62	2.888308|2.888308	0.52014|0.52014	.|.	.|.	ENSG00000152936|ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000545543|ENST00000543629	D;D;D;D;T;D|.	0.98234|.	-4.81;-4.81;-4.81;-4.81;2.28;-4.81|.	5.05|5.05	4.14|4.14	0.48551|0.48551	.|.	.|.	.|.	.|.	.|.	T|T	0.46776|0.46776	0.1410|0.1410	L|L	0.56769|0.56769	1.78|1.78	0.26877|0.26877	N|N	0.967614|0.967614	P;P;P;D|.	0.76494|.	0.782;0.877;0.927;0.999|.	B;B;P;D|.	0.72338|.	0.421;0.367;0.758;0.977|.	T|T	0.33445|0.33445	-0.9868|-0.9868	9|5	0.52906|.	T|.	0.07|.	-0.7208|-0.7208	9.5292|9.5292	0.39182|0.39182	0.0975:0.0:0.9025:0.0|0.0975:0.0:0.9025:0.0	.|.	191;275;235;254|.	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9|.	.;.;.;ILFT1_HUMAN|.	N|Q	254;157;275;191;235;84|28	ENSP00000282881:H254N;ENSP00000443132:H157N;ENSP00000407353:H275N;ENSP00000407043:H191N;ENSP00000393150:H235N;ENSP00000443596:H84N|.	ENSP00000282881:H254N|.	H|P	-|-	1|2	0|0	IFLTD1|IFLTD1	25564252|25564252	0.992000|0.992000	0.36948|0.36948	0.995000|0.995000	0.50966|0.50966	0.561000|0.561000	0.35649|0.35649	1.957000|1.957000	0.40392|0.40392	2.641000|2.641000	0.89580|0.89580	0.585000|0.585000	0.79938|0.79938	CAC|CCA		0.383	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			T	25672985	G	T	25672985	3	4	21	1	0	0	0	0	1	0	0	0	7530	1348	47	3	418	3	IFLTD1	12	25672985	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	4786992	25672985	108178910	52	1159											
NEDD1	121441	genome.wustl.edu	37	12	97313850	97313850	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:97313850C>A	ENST00000266742.4	+	6	775	c.436C>A	c.(436-438)Cac>Aac	p.H146N	NEDD1_ENST00000557644.1_Missense_Mutation_p.H153N|NEDD1_ENST00000411739.2_Missense_Mutation_p.H57N|NEDD1_ENST00000429527.2_Missense_Mutation_p.H146N|NEDD1_ENST00000457368.2_Missense_Mutation_p.H57N|NEDD1_ENST00000555114.1_3'UTR	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	146					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						AATTATTTTACACAGTGTAAC	0.333																																																0			12											152	145	147					12																	97313850		2202	4300	6502	95837981	SO:0001583	missense	121441				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.436C>A	12.37:g.97313850C>A	ENSP00000266742:p.His146Asn		95837981	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926750	0.92319	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000554226;ENST00000557478;ENST00000411739;ENST00000553609;ENST00000557644;ENST00000457368	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.59;1.57;1.57;1.59	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.087872	0.85682	D	0.000000	T	0.52354	0.1729	L	0.59436	1.845	0.80722	D	1	D;P	0.71674	0.998;0.659	D;P	0.81914	0.995;0.499	T	0.24941	-1.0146	10	0.16896	T	0.51	.	20.2366	0.98359	0.0:1.0:0.0:0.0	.	153;146	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	N	146;146;153;146;57;57;153;57	ENSP00000266742:H146N;ENSP00000404978:H146N;ENSP00000450881:H153N;ENSP00000451869:H146N;ENSP00000411307:H57N;ENSP00000451830:H57N;ENSP00000451211:H153N;ENSP00000407964:H57N	ENSP00000266742:H146N	H	+	1	0	NEDD1	95837981	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.175000	0.77632	2.792000	0.96026	0.557000	0.71058	CAC		0.333	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			A	97313850	C	A	97313850	3	1	21	1	0	0	0	0	1	0	0	0	10309	478	17	3	475	3	NEDD1	12	97313850	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	71640865	97313850	36538045	53	1160											
STAB2	55576	genome.wustl.edu	37	12	104129311	104129311	+	Silent	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:104129311C>T	ENST00000388887.2	+	52	5707	c.5503C>T	c.(5503-5505)Ctg>Ttg	p.L1835L		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGAAGACCCTGCAAGGTTC	0.547																																																0			12											74	63	67					12																	104129311		2203	4300	6503	102653441	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5503C>T	12.37:g.104129311C>T			102653441		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104129311	C	T	104129311	2	4	21	1	0	0	0	0	0	0	0	1	15240	680	24	2		2	STAB2	12	104129311	Silent	SNP	C	TCGA-04-1369-01A-02D-1526-09	6815461	104129311	29722584	54	1161											
ACACB	32	genome.wustl.edu	37	12	109654609	109654609	+	Missense_Mutation	SNP	G	G	A	rs146920013		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr12:109654609G>A	ENST00000338432.7	+	24	3567	c.3448G>A	c.(3448-3450)Gac>Aac	p.D1150N	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.D1150N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1150					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGCCCACTACGACAAGTGTGT	0.562																																																0			12						G	ASN/ASP	0,4406		0,0,2203	115	105	109		3448	5.3	1	12	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1150/2459	109654609	1,13005	2203	4300	6503	108138992	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3448G>A	12.37:g.109654609G>A	ENSP00000341044:p.Asp1150Asn		108138992	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664412	0.88251	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000390027	T;T	0.47177	0.85;0.85	5.33	5.33	0.75918	Acetyl-CoA carboxylase, central domain (1);	0.093979	0.64402	D	0.000001	T	0.60625	0.2283	M	0.88377	2.95	0.80722	D	1	B	0.26258	0.145	B	0.28385	0.089	T	0.65393	-0.6179	10	0.87932	D	0	.	19.4891	0.95042	0.0:0.0:1.0:0.0	.	1150	O00763	ACACB_HUMAN	N	1150;1150;381	ENSP00000341044:D1150N;ENSP00000367079:D1150N	ENSP00000341044:D1150N	D	+	1	0	ACACB	108138992	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.756000	0.98918	2.679000	0.91253	0.650000	0.86243	GAC		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109654609	G	A	109654609	3	1	21	1	0	0	0	0	1	0	0	0	107	1058	37	1	3538	1	ACACB	12	109654609	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	5525298	109654609	24197286	55	1162											
FARP1	10160	genome.wustl.edu	37	13	99092292	99092292	+	Silent	SNP	C	C	T	rs139091102	byFrequency	TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr13:99092292C>T	ENST00000319562.6	+	22	2776	c.2511C>T	c.(2509-2511)gcC>gcT	p.A837A	FARP1_ENST00000595437.1_Silent_p.A868A|FARP1_ENST00000376586.2_Silent_p.A868A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	837	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCATCGTGGCCGCCAGGTAAC	0.622																																																0			13						C		2,4404	4.2+/-10.8	0,2,2201	105	118	114		2511	-2.3	1	13	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	FARP1	NM_005766.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		837/1046	99092292	2,13004	2203	4300	6503	97890293	SO:0001819	synonymous_variant	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2511C>T	13.37:g.99092292C>T			97890293	Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	CCDS9487.1																																																																																				0.622	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		T	99092292	C	T	99092292	2	4	21	1	0	0	0	0	0	0	0	1	5676	639	23	1		1	FARP1	13	99092292	Silent	SNP	C	TCGA-04-1369-01A-02D-1526-09		99092292	16077586	56	1163											
FRMD5	84978	genome.wustl.edu	37	15	44177925	44177925	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr15:44177925C>T	ENST00000417257.1	-	11	1089	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	FRMD5_ENST00000402883.1_Missense_Mutation_p.V305M|FRMD5_ENST00000484674.1_Missense_Mutation_p.V211M	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	305						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CTGCTGGACACTGTGCGGACT	0.478																																																0			15											105	91	95					15																	44177925		2198	4298	6496	41965217	SO:0001583	missense	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.913G>A	15.37:g.44177925C>T	ENSP00000403067:p.Val305Met		41965217	Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836299	0.91117	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.83075	-1.68;-1.68;-1.68	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.89866	0.6839	L	0.58428	1.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.89488	0.3755	10	0.56958	D	0.05	.	18.6345	0.91372	0.0:1.0:0.0:0.0	.	290;305;305	Q7Z6J6-2;Q7Z6J6;B5MC67	.;FRMD5_HUMAN;.	M	305;305;271	ENSP00000403067:V305M;ENSP00000384142:V305M;ENSP00000399684:V271M	ENSP00000384142:V305M	V	-	1	0	FRMD5	41965217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.594000	0.67557	2.826000	0.97356	0.655000	0.94253	GTG		0.478	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		T	44177925	C	T	44177925	3	4	21	1	0	0	0	0	1	0	0	0	6053	565	20	2	815	2	FRMD5	15	44177925	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09		44177925	58353467	57	1164											
CYP19A1	1588	genome.wustl.edu	37	15	51504727	51504727	+	Silent	SNP	T	T	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr15:51504727T>C	ENST00000396402.1	-	9	1206	c.1053A>G	c.(1051-1053)caA>caG	p.Q351Q	CYP19A1_ENST00000260433.2_Silent_p.Q351Q|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Silent_p.Q351Q|CYP19A1_ENST00000559878.1_Silent_p.Q351Q	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	351					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	CTTTTAATTTTTGTATATCAT	0.378																																					Melanoma(142;1016 1807 39614 48966 51721)											0			15											119	112	115					15																	51504727		2196	4293	6489	49292019	SO:0001819	synonymous_variant	1588			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1053A>G	15.37:g.51504727T>C			49292019	Q16731|Q3B764|Q58FA0|Q8IYJ7	Silent	SNP	ENST00000396402.1	37	CCDS10139.1																																																																																				0.378	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			C	51504727	T	C	51504727	2	2	21	1	0	0	0	0	0	0	0	1	4148	1838	64	4		4	CYP19A1	15	51504727	Silent	SNP	T	TCGA-04-1369-01A-02D-1526-09	7326802	51504727	51026665	58	1165											
HYDIN	54768	genome.wustl.edu	37	16	71163564	71163564	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr16:71163564G>A	ENST00000393567.2	-	9	1356	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	HYDIN_ENST00000393550.2_Silent_p.N402N|HYDIN_ENST00000541601.1_Silent_p.N419N|HYDIN_ENST00000448691.1_Silent_p.N402N|HYDIN_ENST00000288168.10_Silent_p.N419N|HYDIN_ENST00000321489.5_Silent_p.N402N|HYDIN_ENST00000448089.2_Silent_p.N402N|HYDIN_ENST00000538248.1_Silent_p.N429N	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	402					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGTGAAAACGTTATTGAAGA	0.468																																																0			16											51	50	50					16																	71163564		2198	4300	6498	69721065	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1206C>T	16.37:g.71163564G>A			69721065	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	71163564	G	A	71163564	2	1	21	1	0	0	0	0	0	0	0	1	7467	1136	40	1		1	HYDIN	16	71163564	Silent	SNP	G	TCGA-04-1369-01A-02D-1526-09		71163564	19191189	59	1166											
TP53	7157	genome.wustl.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	A	rs121912660		TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr17:7577099C>A	ENST00000269305.4	-	8	1028	c.839G>T	c.(838-840)aGa>aTa	p.R280I	TP53_ENST00000359597.4_Missense_Mutation_p.R280I|TP53_ENST00000420246.2_Missense_Mutation_p.R280I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280I|TP53_ENST00000445888.2_Missense_Mutation_p.R280I	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GCGCCGGTCTCTCCCAGGACA	0.542		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"	154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	17	GRCh37	CM993218	TP53	M	rs121912660						77	67	70					17																	7577099		2203	4300	6503	7517824	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.839G>T	17.37:g.7577099C>A	ENSP00000269305:p.Arg280Ile		7517824	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380644	0.95945	.	.	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	5.13	5.13	0.70059	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	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.91635	0.99;0.999;0.99;0.99	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	I	280;280;280;280;280;269;148	ENSP00000352610:R280I;ENSP00000269305:R280I;ENSP00000398846:R280I;ENSP00000391127:R280I;ENSP00000391478:R280I;ENSP00000425104:R148I	ENSP00000269305:R280I	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577099	C	A	7577099	3	1	21	1	0	0	0	0	1	0	0	0	16381	913	32	3	447	3	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09		7577099	73618111	60	1167											
MYH2	4620	genome.wustl.edu	37	17	10443994	10443994	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr17:10443994T>G	ENST00000245503.5	-	11	1309	c.925A>C	c.(925-927)Aac>Cac	p.N309H	MYH2_ENST00000397183.2_Missense_Mutation_p.N309H|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.N309H|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	309	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCATATGGGTTCGTGGTAATC	0.388																																																0			17											97	89	92					17																	10443994		2203	4300	6503	10384719	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.925A>C	17.37:g.10443994T>G	ENSP00000245503:p.Asn309His		10384719	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606621	0.87157	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.87809	-2.3;-2.3;-2.3	5.25	5.25	0.73442	Myosin head, motor domain (2);	0.000000	0.42821	U	0.000653	D	0.93969	0.8069	M	0.86502	2.82	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.97110	0.997;1.0	D	0.94889	0.8046	10	0.87932	D	0	.	14.502	0.67729	0.0:0.0:0.0:1.0	.	309;309	Q567P6;Q9UKX2	.;MYH2_HUMAN	H	309	ENSP00000433944:N309H;ENSP00000245503:N309H;ENSP00000380367:N309H	ENSP00000245503:N309H	N	-	1	0	MYH2	10384719	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	7.857000	0.86963	2.214000	0.71695	0.528000	0.53228	AAC		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		G	10443994	T	G	10443994	3	3	21	1	0	0	0	0	1	0	0	0	10035	1783	62	5	5020	5	MYH2	17	10443994	Missense_Mutation	SNP	T	TCGA-04-1369-01A-02D-1526-09	2866895	10443994	70751216	61	1168											
SLC47A1	55244	genome.wustl.edu	37	17	19451412	19451412	+	Silent	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr17:19451412C>T	ENST00000270570.4	+	4	507	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	SLC47A1_ENST00000457293.1_Silent_p.L141L|SLC47A1_ENST00000395585.1_Silent_p.L141L|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.L141L|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Silent_p.L118L|SLC47A1_ENST00000542886.1_Silent_p.L141L	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	141					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CCAGCACATCCTGCTGCTCTT	0.602																																																0			17											102	83	89					17																	19451412		2203	4300	6503	19392004	SO:0001819	synonymous_variant	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.421C>T	17.37:g.19451412C>T			19392004	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	CCDS11209.1																																																																																				0.602	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		T	19451412	C	T	19451412	2	4	21	1	0	0	0	0	0	0	0	1	14650	680	24	2		2	SLC47A1	17	19451412	Silent	SNP	C	TCGA-04-1369-01A-02D-1526-09	9007418	19451412	61743798	62	1169											
CDK12	51755	genome.wustl.edu	37	17	37627173	37627173	+	Nonsense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr17:37627173C>G	ENST00000447079.4	+	2	1121	c.1088C>G	c.(1087-1089)tCa>tGa	p.S363*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.S363*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	363					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCTGCATATTCAAGACATTCA	0.393			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17											59	59	59					17																	37627173		2203	4300	6503	34880699	SO:0001587	stop_gained	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1088C>G	17.37:g.37627173C>G	ENSP00000398880:p.Ser363*		34880699	A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	37	6.133913	0.97315	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	6.16	6.16	0.99307	.	0.000000	0.40908	D	0.000985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.009	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	363	.	ENSP00000407720:S363X	S	+	2	0	CDK12	34880699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.468000	0.73551	2.937000	0.99478	0.650000	0.86243	TCA		0.393	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		G	37627173	C	G	37627173	4	3	21	1	0	0	0	0	0	1	0	0	3128	838	29	3	1094	3	CDK12	17	37627173	Nonsense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	18175761	37627173	43568037	63	1170											
C18orf34	374864	genome.wustl.edu	37	18	30518008	30518008	+	Silent	SNP	A	A	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr18:30518008A>G	ENST00000383096.3	-	23	2753	c.2571T>C	c.(2569-2571)acT>acC	p.T857T	CCDC178_ENST00000579916.1_Silent_p.T177T|CCDC178_ENST00000300227.8_Silent_p.T819T|CCDC178_ENST00000581852.1_Silent_p.T62T|CCDC178_ENST00000406524.2_Silent_p.T881T|CCDC178_ENST00000403303.1_Silent_p.T857T|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000402325.1_Silent_p.T807T|CCDC178_ENST00000583930.1_Silent_p.T881T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	857																	CATCTGTCAAAGTCTGGAAGA	0.343																																																0			18											172	156	161					18																	30518008		2203	4300	6503	28772006	SO:0001819	synonymous_variant	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2571T>C	18.37:g.30518008A>G			28772006	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	CCDS42424.1																																																																																				0.343	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		G	30518008	A	G	30518008	2	3	21	1	0	0	0	0	0	0	0	1	1902	59	3	4		4	C18orf34	18	30518008	Silent	SNP	A	TCGA-04-1369-01A-02D-1526-09		30518008	47559240	64	1171											
ICAM3	3385	genome.wustl.edu	37	19	10445863	10445863	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr19:10445863G>T	ENST00000160262.5	-	4	1024	c.816C>A	c.(814-816)gaC>gaA	p.D272E	ICAM3_ENST00000589261.1_Missense_Mutation_p.D195E|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	272	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCGTTAGCGTGTCCCCGTGGT	0.662																																																0			19											110	120	117					19																	10445863		2203	4300	6503	10306863	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.816C>A	19.37:g.10445863G>T	ENSP00000160262:p.Asp272Glu		10306863	Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218975	0.79464	.	.	ENSG00000076662	ENST00000160262	T	0.03831	3.79	5.15	4.1	0.47936	Immunoglobulin-like fold (1);	0.345909	0.27258	N	0.020197	T	0.11922	0.0290	M	0.83774	2.66	0.22457	N	0.999086	P	0.39576	0.679	P	0.44990	0.466	T	0.04693	-1.0933	10	0.72032	D	0.01	-54.7429	8.9164	0.35585	0.1011:0.0:0.8989:0.0	.	272	P32942	ICAM3_HUMAN	E	272	ENSP00000160262:D272E	ENSP00000160262:D272E	D	-	3	2	ICAM3	10306863	0.816000	0.29132	0.553000	0.28255	0.005000	0.04900	1.632000	0.37102	2.543000	0.85770	0.462000	0.41574	GAC		0.662	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			T	10445863	G	T	10445863	3	4	21	1	0	0	0	0	1	0	0	0	7481	1368	48	3	843	3	ICAM3	19	10445863	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09		10445863	48683120	65	1172											
SPAG4	6676	genome.wustl.edu	37	20	34205117	34205117	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr20:34205117C>G	ENST00000374273.3	+	2	476	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	122					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GACCCTGGATCTGAGGCAGGA	0.652																																																0			20											27	28	28					20																	34205117		2203	4300	6503	33668531	SO:0001583	missense	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.364C>G	20.37:g.34205117C>G	ENSP00000363391:p.Leu122Val		33668531	O43648	Missense_Mutation	SNP	ENST00000374273.3	37	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308534	0.40895	.	.	ENSG00000061656	ENST00000374273	T	0.20598	2.06	4.18	2.1	0.27182	.	1.469950	0.04246	N	0.337793	T	0.17323	0.0416	L	0.38838	1.175	0.27437	N	0.953832	B	0.19817	0.039	B	0.12837	0.008	T	0.27806	-1.0063	10	0.20519	T	0.43	-20.6926	6.6973	0.23205	0.1877:0.5475:0.2649:0.0	.	122	Q9NPE6	SPAG4_HUMAN	V	122	ENSP00000363391:L122V	ENSP00000363391:L122V	L	+	1	2	SPAG4	33668531	0.931000	0.31567	0.997000	0.53966	0.861000	0.49209	0.218000	0.17622	0.614000	0.30107	-0.314000	0.08810	CTG		0.652	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		G	34205117	C	G	34205117	3	3	21	1	0	0	0	0	1	0	0	0	14983	912	32	3	370	3	SPAG4	20	34205117	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09		34205117	28820403	66	1173											
JPH2	57158	genome.wustl.edu	37	20	42788455	42788455	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr20:42788455G>A	ENST00000372980.3	-	2	1844	c.972C>T	c.(970-972)caC>caT	p.H324H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	324					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.H324H(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCATAGCCGTGGCGCAGGT	0.662																																																2	Substitution - coding silent(2)	prostate(1)|endometrium(1)	20											50	43	46					20																	42788455		2203	4299	6502	42221869	SO:0001819	synonymous_variant	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.972C>T	20.37:g.42788455G>A			42221869	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																				0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			A	42788455	G	A	42788455	2	1	21	1	0	0	0	0	0	0	0	1	7961	1136	40	1		1	JPH2	20	42788455	Silent	SNP	G	TCGA-04-1369-01A-02D-1526-09	8583338	42788455	20237065	67	1174											
SS18L1	26039	genome.wustl.edu	37	20	60738631	60738631	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr20:60738631G>A	ENST00000331758.3	+	6	700	c.674G>A	c.(673-675)aGc>aAc	p.S225N	SS18L1_ENST00000370848.4_Missense_Mutation_p.S228N|SS18L1_ENST00000421564.1_Missense_Mutation_p.S225N	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	225	Gln-rich.|Methionine-rich intra-molecular domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CAGGGGAGCAGCATGATGGGG	0.731			T	SSX1	synovial sarcoma																																		Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	0			20											23	25	24					20																	60738631		2194	4293	6487	60172026	SO:0001583	missense	26039			AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.674G>A	20.37:g.60738631G>A	ENSP00000333012:p.Ser225Asn		60172026	A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356274	0.61293	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.32753	1.44;1.44;1.45	4.99	4.99	0.66335	.	0.300220	0.40064	N	0.001196	T	0.35128	0.0921	L	0.54323	1.7	0.30147	N	0.803416	D;P	0.53151	0.958;0.89	B;B	0.42692	0.395;0.272	T	0.44636	-0.9315	10	0.87932	D	0	-15.6503	18.2771	0.90087	0.0:0.0:1.0:0.0	.	225;225	B4DSR7;O75177	.;CREST_HUMAN	N	225;225;228	ENSP00000393999:S225N;ENSP00000333012:S225N;ENSP00000359885:S228N	ENSP00000333012:S225N	S	+	2	0	SS18L1	60172026	1.000000	0.71417	0.969000	0.41365	0.990000	0.78478	2.782000	0.47758	2.312000	0.78011	0.467000	0.42956	AGC		0.731	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			A	60738631	G	A	60738631	3	1	21	1	0	0	0	0	1	0	0	0	15178	971	34	2	696	2	SS18L1	20	60738631	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	17950176	60738631	2286889	68	1175											
RTEL1	8771	genome.wustl.edu	37	20	62325794	62325794	+	5'Flank	SNP	A	A	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr20:62325794A>T	ENST00000369996.1	+	0	0				RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.H1021L|RTEL1_ENST00000360203.5_Missense_Mutation_p.H1021L|RTEL1_ENST00000370003.1_Missense_Mutation_p.H266L|RTEL1_ENST00000508582.2_Missense_Mutation_p.H1045L|RTEL1_ENST00000370018.3_Missense_Mutation_p.H1021L|RTEL1_ENST00000318100.4_Missense_Mutation_p.H1021L	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCCCAAGAGCACCTGAACCAG	0.637																																																0			20											56	62	60					20																	62325794		2184	4283	6467	61796238	SO:0001631	upstream_gene_variant	51750			AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62325794A>T	Exception_encountered		61796238		Missense_Mutation	SNP	ENST00000369996.1	37	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459396	0.43736	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	D;D;D;D;T	0.83506	-1.65;-1.73;-1.61;-1.67;0.56	3.77	3.77	0.43336	.	0.539933	0.21324	N	0.076406	D	0.83644	0.5299	L	0.47716	1.5	0.32737	N	0.508249	B;D;B;B	0.63046	0.372;0.992;0.016;0.372	B;P;B;B	0.59948	0.093;0.866;0.015;0.076	T	0.82170	-0.0590	10	0.16896	T	0.51	-21.7713	10.3751	0.44077	1.0:0.0:0.0:0.0	.	1045;266;1021;1021	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	L	1021;1021;1045;1021;266	ENSP00000359035:H1021L;ENSP00000322287:H1021L;ENSP00000424307:H1045L;ENSP00000353332:H1021L;ENSP00000359020:H266L	ENSP00000353332:H1021L	H	+	2	0	AL353715.1	61796238	0.872000	0.30054	0.857000	0.33713	0.714000	0.41099	2.327000	0.43858	1.694000	0.51137	0.374000	0.22700	CAC		0.637	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			T	62325794	A	T	62325794	1	4	21	0	1	0	0	0	0	0	0	0	13723	159	6	5		5	RTEL1	20	62325794	5'Flank	SNP	A	TCGA-04-1369-01A-02D-1526-09	1587163	62325794	699726	69	1176											
KRTAP27-1	643812	genome.wustl.edu	37	21	31709853	31709853	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chr21:31709853C>T	ENST00000382835.2	-	1	159	c.134G>A	c.(133-135)tGt>tAt	p.C45Y		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	45						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GTCCAGGAAACAGGTTCTGCT	0.458																																																0			21											154	145	148					21																	31709853		2203	4300	6503	30631724	SO:0001583	missense	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.134G>A	21.37:g.31709853C>T	ENSP00000372286:p.Cys45Tyr		30631724		Missense_Mutation	SNP	ENST00000382835.2	37	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174338	0.21704	.	.	ENSG00000206107	ENST00000382835	T	0.03181	4.02	4.34	4.34	0.51931	.	0.491436	0.18983	N	0.125818	T	0.02688	0.0081	N	0.08118	0	0.24380	N	0.994793	B	0.06786	0.001	B	0.14578	0.011	T	0.40831	-0.9542	10	0.72032	D	0.01	-2.2242	12.6258	0.56628	0.0:1.0:0.0:0.0	.	45	Q3LI81	KR271_HUMAN	Y	45	ENSP00000372286:C45Y	ENSP00000372286:C45Y	C	-	2	0	KRTAP27-1	30631724	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	2.929000	0.48916	2.703000	0.92315	0.591000	0.81541	TGT		0.458	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		T	31709853	C	T	31709853	3	4	21	1	0	0	0	0	1	0	0	0	8544	478	17	2	493	2	KRTAP27-1	21	31709853	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09		31709853	16420042	70	1177											
CTPS2	56474	genome.wustl.edu	37	X	16701313	16701313	+	Silent	SNP	C	C	G			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:16701313C>G	ENST00000443824.1	-	9	1652	c.909G>C	c.(907-909)ctG>ctC	p.L303L	CTPS2_ENST00000380241.3_Silent_p.L303L|CTPS2_ENST00000359276.4_Silent_p.L303L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	303	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATTTGCCAACCAGGGCTATGG	0.443																																																0			X											196	166	176					X																	16701313		2203	4300	6503	16611234	SO:0001819	synonymous_variant	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.909G>C	X.37:g.16701313C>G			16611234	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	CCDS14175.1																																																																																				0.443	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		G	16701313	C	G	16701313	2	3	21	1	0	0	0	0	0	0	0	1	4023	581	21	3		3	CTPS2	23	16701313	Silent	SNP	C	TCGA-04-1369-01A-02D-1526-09		16701313	138569247	71	1178											
FAM47A	158724	genome.wustl.edu	37	X	34148304	34148304	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:34148304A>T	ENST00000346193.3	-	1	2143	c.2092T>A	c.(2092-2094)Tgg>Agg	p.W698R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	698										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGAGGTACCATGCTCCATAC	0.433																																																0			X											98	93	95					X																	34148304		2202	4300	6502	34058225	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2092T>A	X.37:g.34148304A>T	ENSP00000345029:p.Trp698Arg		34058225	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211985	0.39102	.	.	ENSG00000185448	ENST00000346193	T	0.19105	2.17	1.17	1.17	0.20885	.	.	.	.	.	T	0.19644	0.0472	M	0.64997	1.995	0.21878	N	0.999498	B	0.12630	0.006	B	0.10450	0.005	T	0.27971	-1.0058	9	0.59425	D	0.04	.	4.2137	0.10524	1.0:0.0:0.0:0.0	.	698	Q5JRC9	FA47A_HUMAN	R	698	ENSP00000345029:W698R	ENSP00000345029:W698R	W	-	1	0	FAM47A	34058225	1.000000	0.71417	0.920000	0.36463	0.694000	0.40290	1.354000	0.34056	0.724000	0.32296	0.441000	0.28932	TGG		0.433	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34148304	A	T	34148304	3	4	21	1	0	0	0	0	1	0	0	0	5569	217	8	5	287	5	FAM47A	23	34148304	Missense_Mutation	SNP	A	TCGA-04-1369-01A-02D-1526-09	17446991	34148304	121122256	72	1179											
FAM47C	442444	genome.wustl.edu	37	X	37027637	37027637	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:37027637C>A	ENST00000358047.3	+	1	1206	c.1154C>A	c.(1153-1155)aCt>aAt	p.T385N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	385										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTCCCAAGACTCGCGTACCT	0.622																																																0			X											61	61	61					X																	37027637		2202	4300	6502	36937558	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1154C>A	X.37:g.37027637C>A	ENSP00000367913:p.Thr385Asn		36937558	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	9.913	1.209972	0.22289	.	.	ENSG00000198173	ENST00000358047	T	0.19105	2.17	0.53	0.53	0.17102	.	.	.	.	.	T	0.29945	0.0749	M	0.78456	2.415	0.09310	N	1	P	0.52316	0.952	P	0.50659	0.647	T	0.15983	-1.0418	9	0.26408	T	0.33	.	6.6782	0.23106	0.0:0.9998:0.0:2.0E-4	.	385	Q5HY64	FA47C_HUMAN	N	385	ENSP00000367913:T385N	ENSP00000367913:T385N	T	+	2	0	FAM47C	36937558	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	1.084000	0.30828	0.487000	0.27698	0.183000	0.17082	ACT		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37027637	C	A	37027637	3	1	21	1	0	0	0	0	1	0	0	0	5571	565	20	3	1156	3	FAM47C	23	37027637	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	2879333	37027637	118242923	73	1180											
SYP	6855	genome.wustl.edu	37	X	49054268	49054268	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:49054268C>T	ENST00000263233.4	-	3	205	c.133G>A	c.(133-135)Ggc>Agc	p.G45S	SYP_ENST00000538567.1_Intron|SYP-AS1_ENST00000433499.1_RNA|SYP_ENST00000479808.1_Missense_Mutation_p.G45S	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	45	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CTGTAGCTGCCGCATGTGGCA	0.607													c|||	1	0.000264901	0	0	3775	,	,		17953	0		0.001	False		,,,				2504	0															0			X											69	37	48					X																	49054268		2203	4299	6502	48941212	SO:0001583	missense	6855			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.133G>A	X.37:g.49054268C>T	ENSP00000263233:p.Gly45Ser		48941212	B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	CCDS14321.1	.	.	.	.	.	.	.	.	.	.	c	29.1	4.974251	0.92919	.	.	ENSG00000102003	ENST00000263233;ENST00000479808	T;T	0.68479	-0.33;-0.33	4.4	4.4	0.53042	Marvel (1);MARVEL-like domain (1);	0.053815	0.64402	D	0.000001	T	0.74015	0.3661	L	0.54863	1.705	0.80722	D	1	D	0.71674	0.998	P	0.57283	0.817	T	0.77923	-0.2406	10	0.72032	D	0.01	-18.8451	15.0128	0.71562	0.0:1.0:0.0:0.0	.	45	P08247	SYPH_HUMAN	S	45	ENSP00000263233:G45S;ENSP00000418169:G45S	ENSP00000263233:G45S	G	-	1	0	SYP	48941212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.134000	0.77268	1.772000	0.52199	0.525000	0.51046	GGC		0.607	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		T	49054268	C	T	49054268	3	4	21	1	0	0	0	0	1	0	0	0	15461	652	23	1	824	1	SYP	23	49054268	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	12026631	49054268	106216292	74	1181											
NUDT11	55190	genome.wustl.edu	37	X	51239268	51239268	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:51239268G>T	ENST00000375992.3	-	1	180	c.29C>A	c.(28-30)aCc>aAc	p.T10N		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	10					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					GGGGTCGTAGGTCCGCGTCTG	0.677										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)											0			X											21	18	19					X																	51239268		2199	4298	6497	51256008	SO:0001583	missense	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.29C>A	X.37:g.51239268G>T	ENSP00000365160:p.Thr10Asn		51256008	Q9NVN0	Missense_Mutation	SNP	ENST00000375992.3	37	CCDS43952.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945689	0.73672	.	.	ENSG00000196368	ENST00000375992	T	0.43294	0.95	3.0	2.09	0.27110	NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	M	0.70595	2.14	0.32673	N	0.516548	D	0.89917	1.0	D	0.72075	0.976	T	0.62158	-0.6913	9	0.25751	T	0.34	-18.3207	8.4815	0.33045	0.0:0.0:0.7667:0.2333	.	10	Q96G61	NUD11_HUMAN	N	10	ENSP00000365160:T10N	ENSP00000365160:T10N	T	-	2	0	NUDT11	51256008	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	6.555000	0.73928	0.442000	0.26555	0.544000	0.68410	ACC		0.677	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			T	51239268	G	T	51239268	3	4	21	1	0	0	0	0	1	0	0	0	10727	1261	44	3	473	3	NUDT11	23	51239268	Missense_Mutation	SNP	G	TCGA-04-1369-01A-02D-1526-09	2185000	51239268	104031292	75	1182											
WNK3	65267	genome.wustl.edu	37	X	54278102	54278102	+	Silent	SNP	G	G	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:54278102G>A	ENST00000375159.2	-	13	2385	c.2386C>T	c.(2386-2388)Ctg>Ttg	p.L796L	WNK3_ENST00000375169.3_Silent_p.L796L|WNK3_ENST00000354646.2_Silent_p.L796L			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	796					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCACTTTCCAGCACAAAGTTA	0.358																																																0			X											62	60	61					X																	54278102		2203	4300	6503	54294827	SO:0001819	synonymous_variant	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2386C>T	X.37:g.54278102G>A			54294827	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	CCDS14357.1																																																																																				0.358	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		A	54278102	G	A	54278102	2	1	21	1	0	0	0	0	0	0	0	1	17379	962	34	2		2	WNK3	23	54278102	Silent	SNP	G	TCGA-04-1369-01A-02D-1526-09	3038834	54278102	100992458	76	1183											
KLHL13	90293	genome.wustl.edu	37	X	117054278	117054278	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:117054278C>A	ENST00000262820.3	-	3	1205	c.296G>T	c.(295-297)gGt>gTt	p.G99V	KLHL13_ENST00000371878.1_Missense_Mutation_p.G48V|KLHL13_ENST00000540167.1_Missense_Mutation_p.G83V|KLHL13_ENST00000469946.1_Missense_Mutation_p.G48V|KLHL13_ENST00000541812.1_Missense_Mutation_p.G83V|KLHL13_ENST00000371876.1_Missense_Mutation_p.G48V|KLHL13_ENST00000545703.1_Missense_Mutation_p.G57V|KLHL13_ENST00000539496.1_Missense_Mutation_p.G102V|KLHL13_ENST00000371882.1_Missense_Mutation_p.G48V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATCTGTGTCACCTGGCATCAG	0.433																																																0			X											201	154	170					X																	117054278		2203	4300	6503	116938306	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.296G>T	X.37:g.117054278C>A	ENSP00000262820:p.Gly99Val		116938306	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	c	18.25	3.581836	0.65992	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.83	4.83	0.62350	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.051583	0.85682	D	0.000000	T	0.64757	0.2627	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.24768	0.0;0.111;0.016;0.047	B;B;B;B	0.24701	0.009;0.053;0.033;0.055	T	0.65183	-0.6230	10	0.66056	D	0.02	.	17.1231	0.86706	0.0:1.0:0.0:0.0	.	83;102;93;99	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	V	48;48;48;48;83;83;102;99;57;48	ENSP00000360949:G48V;ENSP00000360943:G48V;ENSP00000360945:G48V;ENSP00000412640:G48V;ENSP00000444450:G83V;ENSP00000441029:G83V;ENSP00000443191:G102V;ENSP00000262820:G99V;ENSP00000440707:G57V;ENSP00000419803:G48V	ENSP00000262820:G99V	G	-	2	0	KLHL13	116938306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	2.222000	0.72286	0.540000	0.68198	GGT		0.433	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		A	117054278	C	A	117054278	3	1	21	1	0	0	0	0	1	0	0	0	8369	507	18	3	1691	3	KLHL13	23	117054278	Missense_Mutation	SNP	C	TCGA-04-1369-01A-02D-1526-09	62776176	117054278	38216282	77	1184											
GLUD2	2747	genome.wustl.edu	37	X	120183098	120183098	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1369-01A-02D-1526-09	TCGA-04-1369-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7a657ef6-0ff3-40cb-b02b-a1a79ef899f6	e1d50578-4839-4490-ab36-f0d82fec4eec	g.chrX:120183098A>C	ENST00000328078.1	+	1	1637	c.1560A>C	c.(1558-1560)caA>caC	p.Q520H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	520					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CTGCCAGGCAAATTATGCACA	0.468																																																0			X											160	122	135					X																	120183098		2203	4300	6503	120010779	SO:0001583	missense	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1560A>C	X.37:g.120183098A>C	ENSP00000327589:p.Gln520His		120010779	B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594322	0.28445	.	.	ENSG00000182890	ENST00000328078	D	0.96427	-4.01	1.62	0.34	0.15985	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.110397	0.64402	D	0.000006	D	0.92169	0.7517	L	0.50333	1.59	0.54753	D	0.999984	P	0.48589	0.912	B	0.41440	0.357	D	0.86575	0.1850	10	0.49607	T	0.09	.	4.8397	0.13483	0.7251:0.0:0.0:0.2749	.	520	P49448	DHE4_HUMAN	H	520	ENSP00000327589:Q520H	ENSP00000327589:Q520H	Q	+	3	2	GLUD2	120010779	1.000000	0.71417	0.082000	0.20525	0.073000	0.16967	6.284000	0.72652	0.046000	0.15833	0.336000	0.21669	CAA		0.468	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		C	120183098	A	C	120183098	3	2	21	1	0	0	0	0	1	0	0	0	6477	11	1	5	1562	5	GLUD2	23	120183098	Missense_Mutation	SNP	A	TCGA-04-1369-01A-02D-1526-09	3128820	120183098	35087462	78	1185											
MORN1	79906	hgsc.bcm.edu	37	1	2305979	2305979	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr1:2305979G>T	ENST00000378531.3	-	7	728	c.555C>A	c.(553-555)gaC>gaA	p.D185E	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.D185E|RP4-740C4.9_ENST00000606642.1_RNA	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	185								p.D185E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CACTGAAGACGTCGCTGTGCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											86	59	68					1																	2305979		2199	4297	6496	2295839	SO:0001583	missense	79906			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.555C>A	1.37:g.2305979G>T	ENSP00000367792:p.Asp185Glu		2295839	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	CCDS40.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037416	0.54896	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000419785;ENST00000378527	T;T	0.49432	0.78;0.78	5.07	-1.76	0.08006	.	0.222951	0.29286	N	0.012589	T	0.67979	0.2951	M	0.92691	3.335	0.09310	N	0.999997	D;D	0.71674	0.969;0.998	P;D	0.67725	0.749;0.953	T	0.61098	-0.7131	10	0.59425	D	0.04	.	9.3769	0.38288	0.5917:0.0:0.4083:0.0	.	185;185	Q5T089-2;Q5T089	.;MORN1_HUMAN	E	185;185;54;54	ENSP00000367792:D185E;ENSP00000367790:D185E	ENSP00000367788:D54E	D	-	3	2	MORN1	2295839	0.000000	0.05858	0.050000	0.19076	0.988000	0.76386	-0.579000	0.05834	-0.203000	0.10251	-0.258000	0.10820	GAC		0.617	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		T	2305979	G	T	2305979	3	4	22	1	0	0	0	0	1	0	0	0	9708	1136	40	3	970	3	MORN1	1	2305979	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10		2305979	246944642	1	1186											
YIPF1	54432	hgsc.bcm.edu	37	1	54332041	54332041	+	Silent	SNP	G	G	A			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr1:54332041G>A	ENST00000072644.1	-	9	999	c.663C>T	c.(661-663)atC>atT	p.I221I	YIPF1_ENST00000371399.1_Silent_p.I38I|YIPF1_ENST00000539954.1_Silent_p.I246I|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	221						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.I221I(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CTTTCTGGGGGATAATCCACA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	1											44	45	45					1																	54332041		2203	4300	6503	54104629	SO:0001819	synonymous_variant	54432			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"Yip1 domain family"	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.663C>T	1.37:g.54332041G>A			54104629	B2RCM7|D3DQ40|Q9NWJ1	Silent	SNP	ENST00000072644.1	37	CCDS584.1																																																																																				0.488	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		A	54332041	G	A	54332041	2	1	22	1	0	0	0	0	0	0	0	1	17477	1164	41	2		2	YIPF1	1	54332041	Silent	SNP	G	TCGA-04-1514-01A-01W-0552-10	52026062	54332041	194918580	2	1187											
ROR1	4919	hgsc.bcm.edu	37	1	64515405	64515405	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr1:64515405C>T	ENST00000371079.1	+	3	581	c.206C>T	c.(205-207)aCg>aTg	p.T69M	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.T69M	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	69	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.T69M(2)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACATCACCACGTCTCTGGGC	0.547																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	1											139	134	136					1																	64515405		2203	4300	6503	64287993	SO:0001583	missense	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.206C>T	1.37:g.64515405C>T	ENSP00000360120:p.Thr69Met		64287993	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134388	0.77662	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.67345	-0.26;-0.26	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000470	T	0.72550	0.3474	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.74674	0.881;0.984	T	0.72293	-0.4336	10	0.52906	T	0.07	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	69;69	Q01973;Q66K77	ROR1_HUMAN;.	M	69;69;72	ENSP00000360121:T69M;ENSP00000360120:T69M	ENSP00000360120:T69M	T	+	2	0	ROR1	64287993	0.998000	0.40836	0.972000	0.41901	0.961000	0.63080	3.803000	0.55560	2.730000	0.93505	0.563000	0.77884	ACG		0.547	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		T	64515405	C	T	64515405	3	4	22	1	0	0	0	0	1	0	0	0	13529	536	19	1	216	1	ROR1	1	64515405	Missense_Mutation	SNP	C	TCGA-04-1514-01A-01W-0552-10	10183364	64515405	184735216	3	1188											
PFN4	375189	hgsc.bcm.edu	37	2	24345401	24345401	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr2:24345401C>T	ENST00000313213.4	-	2	376	c.5G>A	c.(4-6)aGc>aAc	p.S2N	PFN4_ENST00000465360.1_Intron|FAM228B_ENST00000420135.2_5'Flank|RP11-507M3.1_ENST00000584973.1_5'Flank|FAM228B_ENST00000407625.1_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	2					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)	p.S2N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAAATGGCTCATGTTCCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	2											130	130	130					2																	24345401		2203	4300	6503	24198905	SO:0001583	missense	375189			BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.5G>A	2.37:g.24345401C>T	ENSP00000322170:p.Ser2Asn		24198905	Q53TL9	Missense_Mutation	SNP	ENST00000313213.4	37	CCDS1709.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708194	0.48412	.	.	ENSG00000176732	ENST00000313213;ENST00000436622	.	.	.	5.05	4.11	0.48088	.	0.173320	0.40818	N	0.001018	T	0.13286	0.0322	N	0.02916	-0.46	0.30154	N	0.802779	P	0.51791	0.948	P	0.46237	0.508	T	0.05616	-1.0874	9	0.05959	T	0.93	-0.3848	10.9666	0.47416	0.0:0.811:0.189:0.0	.	2	Q8NHR9	PROF4_HUMAN	N	2	.	ENSP00000322170:S2N	S	-	2	0	PFN4	24198905	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	0.733000	0.26087	2.524000	0.85096	0.561000	0.74099	AGC		0.463	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346		T	24345401	C	T	24345401	3	4	22	1	0	0	0	0	1	0	0	0	11770	797	28	2	400	2	PFN4	2	24345401	Missense_Mutation	SNP	C	TCGA-04-1514-01A-01W-0552-10		24345401	218853972	4	1189											
PSME4	23198	hgsc.bcm.edu	37	2	54093979	54093979	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr2:54093979C>T	ENST00000404125.1	-	45	5357	c.5302G>A	c.(5302-5304)Gca>Aca	p.A1768T	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.A912T	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1768					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.A1654T(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAACACATGCACCAAGTCCT	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											135	114	121					2																	54093979		2203	4300	6503	53947483	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5302G>A	2.37:g.54093979C>T	ENSP00000384211:p.Ala1768Thr		53947483	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	36	5.780041	0.96929	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.65732	-0.17;-0.17	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.90650	3.135	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;1.0;0.998	D	0.86491	0.1797	10	0.87932	D	0	0.0189	20.0745	0.97737	0.0:1.0:0.0:0.0	.	1143;912;912;1768	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	T	912;1768	ENSP00000410830:A912T;ENSP00000384211:A1768T	ENSP00000384211:A1768T	A	-	1	0	PSME4	53947483	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	7.794000	0.85869	2.748000	0.94277	0.462000	0.41574	GCA		0.443	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		T	54093979	C	T	54093979	3	4	22	1	0	0	0	0	1	0	0	0	12712	710	25	2	237	2	PSME4	2	54093979	Missense_Mutation	SNP	C	TCGA-04-1514-01A-01W-0552-10	29748578	54093979	189105394	5	1190											
MARCO	8685	hgsc.bcm.edu	37	2	119732118	119732118	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr2:119732118C>G	ENST00000327097.4	+	6	725	c.590C>G	c.(589-591)cCa>cGa	p.P197R	MARCO_ENST00000541757.1_Missense_Mutation_p.P119R	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	197	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.P197R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCCAAGGCCCACCGGGAGTC	0.552																																					GBM(8;18 374 7467 11269 32796)											1	Substitution - Missense(1)	ovary(1)	2											66	70	69					2																	119732118		2203	4300	6503	119448588	SO:0001583	missense	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.590C>G	2.37:g.119732118C>G	ENSP00000318916:p.Pro197Arg		119448588	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380963	0.24944	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.98684	-5.07;-5.07	5.08	4.14	0.48551	.	0.263421	0.32687	N	0.005773	D	0.98432	0.9478	L	0.60957	1.885	0.36013	D	0.838233	D	0.89917	1.0	D	0.76575	0.988	D	0.99916	1.1227	9	.	.	.	.	8.5303	0.33331	0.0:0.884:0.0:0.116	.	197	Q9UEW3	MARCO_HUMAN	R	197;197;119	ENSP00000318916:P197R;ENSP00000441769:P119R	.	P	+	2	0	MARCO	119448588	0.023000	0.18921	0.988000	0.46212	0.856000	0.48823	0.091000	0.15046	1.381000	0.46364	0.655000	0.94253	CCA		0.552	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		G	119732118	C	G	119732118	3	3	22	1	0	0	0	0	1	0	0	0	9311	594	21	3	612	3	MARCO	2	119732118	Missense_Mutation	SNP	C	TCGA-04-1514-01A-01W-0552-10	65638139	119732118	123467255	6	1191											
MGAT5	4249	hgsc.bcm.edu	37	2	135075162	135075163	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr2:135075162_135075163delGA	ENST00000409645.1	+	4	721_722	c.469_470delGA	c.(469-471)gagfs	p.E157fs	MGAT5_ENST00000281923.2_Frame_Shift_Del_p.E157fs			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	157					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.E157fs*34(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCCTCACTGTGAGGGAAAGATC	0.431																																																1	Deletion - Frameshift(1)	ovary(1)	2																																								134791633	SO:0001589	frameshift_variant	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.469_470delGA	2.37:g.135075162_135075163delGA	ENSP00000386377:p.Glu157fs		134791632	D3DP70	Frame_Shift_Del	DEL	ENST00000409645.1	37	CCDS2171.1																																																																																				0.431	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		-	135075163	GA	-	135075162	7	5	22	1	0	1	0	1	0	0	0	0	9548	1291	45	0	479	0	MGAT5	2	135075162	Frame_Shift_Del	DEL	GA	TCGA-04-1514-01A-01W-0552-10	15343044	135075162	108124211	7	1192											
LRP1B	53353	hgsc.bcm.edu	37	2	141625196	141625196	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr2:141625196A>T	ENST00000389484.3	-	27	5513	c.4542T>A	c.(4540-4542)ttT>ttA	p.F1514L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1514					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.F1514L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGAAGGTCAAATGGCTGTG	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											190	167	175					2																	141625196		2203	4300	6503	141341666	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4542T>A	2.37:g.141625196A>T	ENSP00000374135:p.Phe1514Leu		141341666	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479947	0.44044	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.90844	-2.74;-2.74	5.42	2.92	0.33932	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	N	0.25031	0.7	0.45883	D	0.998734	P;D	0.69078	0.879;0.997	P;D	0.70716	0.688;0.97	T	0.82839	-0.0259	10	0.17369	T	0.5	.	8.2768	0.31877	0.6845:0.0:0.3155:0.0	.	697;1514	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	L	1514;1452;659	ENSP00000374135:F1514L;ENSP00000413239:F659L	ENSP00000374135:F1514L	F	-	3	2	LRP1B	141341666	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.719000	0.25881	0.312000	0.23038	0.533000	0.62120	TTT		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141625196	A	T	141625196	3	4	22	1	0	0	0	0	1	0	0	0	8955	127	5	5	9517	5	LRP1B	2	141625196	Missense_Mutation	SNP	A	TCGA-04-1514-01A-01W-0552-10	6550034	141625196	101574177	8	1193											
CHN1	1123	hgsc.bcm.edu	37	2	175816915	175816915	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr2:175816915C>G	ENST00000409900.3	-	2	348	c.35G>C	c.(34-36)aGa>aCa	p.R12T	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.R12T	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	12					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.R12T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AACAGGAGGTCTATATTCATC	0.229			T	TAF15	extraskeletal myxoid chondrosarcoma																																		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	1	Substitution - Missense(1)	ovary(1)	2											26	26	26					2																	175816915		1778	4022	5800	175525161	SO:0001583	missense	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.35G>C	2.37:g.175816915C>G	ENSP00000386741:p.Arg12Thr		175525161	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952794	0.34471	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.70869	-0.52;-0.11	5.6	5.6	0.85130	.	.	.	.	.	T	0.63224	0.2493	L	0.44542	1.39	0.48830	D	0.999718	B;B	0.23540	0.087;0.041	B;B	0.28011	0.085;0.085	T	0.57207	-0.7851	9	0.12766	T	0.61	.	15.1252	0.72478	0.0:1.0:0.0:0.0	.	12;12	B4DV19;P15882	.;CHIN_HUMAN	T	12	ENSP00000386741:R12T;ENSP00000386470:R12T	ENSP00000386470:R12T	R	-	2	0	CHN1	175525161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.064000	0.64338	2.636000	0.89361	0.655000	0.94253	AGA		0.229	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		G	175816915	C	G	175816915	3	3	22	1	0	0	0	0	1	0	0	0	3362	913	32	3	1392	3	CHN1	2	175816915	Missense_Mutation	SNP	C	TCGA-04-1514-01A-01W-0552-10	34191719	175816915	67382458	9	1194											
PLCD4	84812	hgsc.bcm.edu	37	2	219498439	219498439	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr2:219498439T>C	ENST00000450993.2	+	11	1900	c.1561T>C	c.(1561-1563)Tca>Cca	p.S521P	PLCD4_ENST00000417849.1_Missense_Mutation_p.S521P|PLCD4_ENST00000432688.1_Missense_Mutation_p.S553P|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	521	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S521P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTACGAGATATCATCTTTCTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											94	86	89					2																	219498439		1915	4138	6053	219206683	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1561T>C	2.37:g.219498439T>C	ENSP00000388631:p.Ser521Pro		219206683	Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937887	0.52972	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.55588	0.51;0.51;0.51	5.42	4.24	0.50183	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.063240	0.64402	D	0.000004	T	0.73241	0.3562	M	0.87900	2.915	0.42552	D	0.993118	D	0.61697	0.99	D	0.67231	0.95	T	0.77558	-0.2543	10	0.62326	D	0.03	.	12.2532	0.54610	0.0:0.0:0.1423:0.8577	.	521	Q9BRC7	PLCD4_HUMAN	P	521;521;521;553	ENSP00000388631:S521P;ENSP00000396942:S521P;ENSP00000396185:S553P	ENSP00000251959:S521P	S	+	1	0	PLCD4	219206683	1.000000	0.71417	0.801000	0.32222	0.840000	0.47671	4.859000	0.62954	1.033000	0.39918	0.533000	0.62120	TCA		0.507	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			C	219498439	T	C	219498439	3	2	22	1	0	0	0	0	1	0	0	0	12033	1435	50	4	1599	4	PLCD4	2	219498439	Missense_Mutation	SNP	T	TCGA-04-1514-01A-01W-0552-10	43681524	219498439	23700934	10	1195											
COPS8	10920	hgsc.bcm.edu	37	2	237998543	237998543	+	Silent	SNP	A	A	G			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr2:237998543A>G	ENST00000354371.2	+	4	890	c.237A>G	c.(235-237)caA>caG	p.Q79Q	COPS8_ENST00000409334.1_Silent_p.Q79Q|COPS8_ENST00000409629.1_Silent_p.Q79Q|COPS8_ENST00000392008.2_Silent_p.Q30Q	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	79	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.Q79Q(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		CAGTAGGACAAAGAATCTGGC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	2											76	77	76					2																	237998543		2203	4300	6503	237663282	SO:0001819	synonymous_variant	10920				CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.237A>G	2.37:g.237998543A>G			237663282	A8K1H6|Q53QS9	Silent	SNP	ENST00000354371.2	37	CCDS2517.1																																																																																				0.433	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		G	237998543	A	G	237998543	2	3	22	1	0	0	0	0	0	0	0	1	3740	11	1	4		4	COPS8	2	237998543	Silent	SNP	A	TCGA-04-1514-01A-01W-0552-10	18500104	237998543	5200830	11	1196											
CTNNB1	1499	hgsc.bcm.edu	37	3	41275769	41275769	+	Missense_Mutation	SNP	G	G	C	rs186068630		TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr3:41275769G>C	ENST00000349496.5	+	10	1944	c.1664G>C	c.(1663-1665)gGg>gCg	p.G555A	CTNNB1_ENST00000453024.1_Missense_Mutation_p.G548A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G555A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G555A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G555A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	555					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G555A(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCCATGGGTGGGACACAGCAG	0.473		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	1	Substitution - Missense(1)	ovary(1)	3											122	103	109					3																	41275769		2203	4300	6503	41250773	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1664G>C	3.37:g.41275769G>C	ENSP00000344456:p.Gly555Ala		41250773	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202203	0.58234	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.96	5.96	0.96718	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.42744	1.35	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51787	-0.8661	10	0.13470	T	0.59	-16.878	20.422	0.99049	0.0:0.0:1.0:0.0	.	483;555	B4DSW9;P35222	.;CTNB1_HUMAN	A	555;555;555;548;555	ENSP00000385604:G555A;ENSP00000379486:G555A;ENSP00000344456:G555A;ENSP00000411226:G548A;ENSP00000379488:G555A	ENSP00000344456:G555A	G	+	2	0	CTNNB1	41250773	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.415000	0.97375	2.832000	0.97577	0.655000	0.94253	GGG		0.473	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		C	41275769	G	C	41275769	3	2	22	1	0	0	0	0	1	0	0	0	4016	1232	43	3	1698	3	CTNNB1	3	41275769	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10		41275769	156746661	12	1197											
C4orf14	84273	hgsc.bcm.edu	37	4	57830619	57830619	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr4:57830619C>A	ENST00000264230.4	-	6	3075	c.1838G>T	c.(1837-1839)gGa>gTa	p.G613V		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	613					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.G613V(1)									TGCCCCCAGTCCTTCTTTTAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											179	184	182					4																	57830619		2203	4300	6503	57525376	SO:0001583	missense	84273			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1838G>T	4.37:g.57830619C>A	ENSP00000264230:p.Gly613Val		57525376	Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268429	0.40095	.	.	ENSG00000084092	ENST00000264230	T	0.35605	1.3	5.37	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	L	0.31926	0.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49799	-0.8901	10	0.59425	D	0.04	.	13.7844	0.63102	0.0:0.925:0.0:0.075	.	613	Q8NC60	CD014_HUMAN	V	613	ENSP00000264230:G613V	ENSP00000264230:G613V	G	-	2	0	C4orf14	57525376	1.000000	0.71417	0.548000	0.28192	0.011000	0.07611	3.306000	0.51881	1.392000	0.46585	0.557000	0.71058	GGA		0.408	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		A	57830619	C	A	57830619	3	1	22	1	0	0	0	0	1	0	0	0	2251	855	30	3	266	3	C4orf14	4	57830619	Missense_Mutation	SNP	C	TCGA-04-1514-01A-01W-0552-10		57830619	133323657	13	1198											
CDH9	1007	hgsc.bcm.edu	37	5	26988429	26988429	+	Silent	SNP	G	G	A			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr5:26988429G>A	ENST00000231021.4	-	2	184	c.12C>T	c.(10-12)taC>taT	p.Y4Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	4					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y4Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTATATAATGGTAAGTCCTCA	0.323																																					Melanoma(8;187 585 15745 40864 52829)											1	Substitution - coding silent(1)	ovary(1)	5											115	121	119					5																	26988429		2203	4300	6503	27024186	SO:0001819	synonymous_variant	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.12C>T	5.37:g.26988429G>A			27024186	Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																				0.323	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26988429	G	A	26988429	2	1	22	1	0	0	0	0	0	0	0	1	3117	1256	44	2		2	CDH9	5	26988429	Silent	SNP	G	TCGA-04-1514-01A-01W-0552-10		26988429	153926831	14	1199											
HIVEP1	3096	hgsc.bcm.edu	37	6	12122613	12122613	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr6:12122613G>A	ENST00000379388.2	+	4	2917	c.2585G>A	c.(2584-2586)aGa>aAa	p.R862K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	862					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R862K(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CATCCACTAAGAGGAAGTCAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	6											112	106	108					6																	12122613		1912	4138	6050	12230599	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2585G>A	6.37:g.12122613G>A	ENSP00000368698:p.Arg862Lys		12230599	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285159	0.95517	.	.	ENSG00000095951	ENST00000379388	T	0.47177	0.85	6.02	6.02	0.97574	.	0.000000	0.39615	N	0.001312	T	0.71005	0.3289	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72371	-0.4314	9	.	.	.	-30.8482	20.5407	0.99260	0.0:0.0:1.0:0.0	.	862	P15822	ZEP1_HUMAN	K	862	ENSP00000368698:R862K	.	R	+	2	0	HIVEP1	12230599	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	AGA		0.453	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12122613	G	A	12122613	3	1	22	1	0	0	0	0	1	0	0	0	7186	942	33	2	2595	2	HIVEP1	6	12122613	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10		12122613	158992454	15	1200											
PREP	5550	hgsc.bcm.edu	37	6	105821390	105821390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr6:105821390C>T	ENST00000369110.3	-	5	641	c.449G>A	c.(448-450)tGg>tAg	p.W150*		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	150					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.W150*(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GATTGTCACCCAGTCTGAGCC	0.473																																																1	Substitution - Nonsense(1)	ovary(1)	6											127	111	116					6																	105821390		2203	4300	6503	105928083	SO:0001587	stop_gained	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.449G>A	6.37:g.105821390C>T	ENSP00000358106:p.Trp150*		105928083	Q8N6D4	Nonsense_Mutation	SNP	ENST00000369110.3	37	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	C	40	8.186839	0.98696	.	.	ENSG00000085377	ENST00000369110	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0746	20.5373	0.99239	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000358106:W150X	W	-	2	0	PREP	105928083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	TGG		0.473	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			T	105821390	C	T	105821390	4	4	22	1	0	0	0	0	0	1	0	0	12477	595	21	2	1727	2	PREP	6	105821390	Nonsense_Mutation	SNP	C	TCGA-04-1514-01A-01W-0552-10	93698777	105821390	65293677	16	1201											
HOOK3	84376	hgsc.bcm.edu	37	8	42814397	42814397	+	Silent	SNP	A	A	C			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr8:42814397A>C	ENST00000307602.4	+	8	755	c.555A>C	c.(553-555)ctA>ctC	p.L185L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	185					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.L185L(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAGAGGAACTAAATGAAGCTT	0.343			T	RET	papillary thyroid																																		Dom	yes		8	8p11.21	84376	hook homolog 3		E	1	Substitution - coding silent(1)	ovary(1)	8											106	106	106					8																	42814397		2203	4300	6503	42933554	SO:0001819	synonymous_variant	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.555A>C	8.37:g.42814397A>C			42933554	D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	ENST00000307602.4	37	CCDS6139.1																																																																																				0.343	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		C	42814397	A	C	42814397	2	2	22	1	0	0	0	0	0	0	0	1	7284	349	13	5		5	HOOK3	8	42814397	Silent	SNP	A	TCGA-04-1514-01A-01W-0552-10		42814397	103549625	17	1202											
PAPPA	5069	hgsc.bcm.edu	37	9	119093633	119093633	+	Silent	SNP	C	C	A			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr9:119093633C>A	ENST00000328252.3	+	11	3627	c.3258C>A	c.(3256-3258)ctC>ctA	p.L1086L	PAPPA_ENST00000534838.1_Silent_p.L124L	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1086					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1086L(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTTTTGGCTCCGGGTAAGCT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	9											91	78	82					9																	119093633		2203	4300	6503	118133454	SO:0001819	synonymous_variant	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3258C>A	9.37:g.119093633C>A			118133454	B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	8.852	0.944734	0.18356	.	.	ENSG00000182752	ENST00000443904	.	.	.	6.06	5.15	0.70609	.	.	.	.	.	T	0.71753	0.3377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74318	-0.3704	5	0.62326	D	0.03	-11.8919	11.3792	0.49746	0.1309:0.6164:0.2527:0.0	.	.	.	.	T	530	.	ENSP00000400477:P530T	P	+	1	0	PAPPA	118133454	0.998000	0.40836	1.000000	0.80357	0.844000	0.47949	0.459000	0.21908	1.552000	0.49463	0.655000	0.94253	CCG		0.522	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		A	119093633	C	A	119093633	2	1	22	1	0	0	0	0	0	0	0	1	11432	842	30	3		3	PAPPA	9	119093633	Silent	SNP	C	TCGA-04-1514-01A-01W-0552-10		119093633	22119798	18	1203											
C9orf50	375759	hgsc.bcm.edu	37	9	132375843	132375843	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr9:132375843G>C	ENST00000372478.4	-	5	1115	c.914C>G	c.(913-915)gCc>gGc	p.A305G	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	305								p.A305G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CACTGGCAGGGCGGCCTTCTG	0.627																																																1	Substitution - Missense(1)	ovary(1)	9											69	70	70					9																	132375843		2203	4300	6503	131415664	SO:0001583	missense	375759			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.914C>G	9.37:g.132375843G>C	ENSP00000361556:p.Ala305Gly		131415664	Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	G	7.786	0.710495	0.15239	.	.	ENSG00000179058	ENST00000372478	T	0.23348	1.91	3.27	-0.707	0.11245	.	1.186270	0.06534	N	0.742079	T	0.11623	0.0283	N	0.12182	0.205	0.09310	N	1	P	0.36837	0.571	B	0.36335	0.222	T	0.15350	-1.0440	10	0.31617	T	0.26	0.0666	0.6758	0.00866	0.2333:0.1896:0.3829:0.1943	.	305	Q5SZB4	CI050_HUMAN	G	305	ENSP00000361556:A305G	ENSP00000361556:A305G	A	-	2	0	C9orf50	131415664	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.246000	0.18160	-0.137000	0.11455	0.456000	0.33151	GCC		0.627	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		C	132375843	G	C	132375843	3	2	22	1	0	0	0	0	1	0	0	0	2487	1203	42	3	393	3	C9orf50	9	132375843	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10	13282210	132375843	8837588	19	1204											
HNRNPH3	3189	hgsc.bcm.edu	37	10	70101791	70101791	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr10:70101791G>A	ENST00000265866.7	+	10	1186	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G326R|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G233R	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	341	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G341R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GAGTGGAGGTGGATGGCGTGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	10											125	105	112					10																	70101791		2203	4300	6503	69771797	SO:0001583	missense	3189				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.1021G>A	10.37:g.70101791G>A	ENSP00000265866:p.Gly341Arg		69771797	A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.985323	0.53934	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.19105	2.73;2.17;2.62	6.04	6.04	0.98038	.	0.187753	0.37809	N	0.001927	T	0.16981	0.0408	N	0.14661	0.345	0.80722	D	1	B;B;B	0.25904	0.137;0.087;0.137	B;B;B	0.20384	0.022;0.029;0.013	T	0.06180	-1.0841	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	233;326;341	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	R	341;233;326	ENSP00000265866:G341R;ENSP00000409869:G233R;ENSP00000346726:G326R	ENSP00000265866:G341R	G	+	1	0	HNRNPH3	69771797	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.473000	0.60196	2.873000	0.98535	0.563000	0.77884	GGA		0.438	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			A	70101791	G	A	70101791	3	1	22	1	0	0	0	0	1	0	0	0	7268	1349	47	2	1055	2	HNRNPH3	10	70101791	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10		70101791	65432956	20	1205											
AMPD3	272	hgsc.bcm.edu	37	11	10506457	10506457	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr11:10506457G>T	ENST00000396554.3	+	5	1048	c.707G>T	c.(706-708)gGc>gTc	p.G236V	AMPD3_ENST00000444303.2_Missense_Mutation_p.G68V	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	227					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.G236V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ATGCAGGGGGGCATCCTCTTT	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											102	87	92					11																	10506457		2201	4294	6495	10463033	SO:0001583	missense	272			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.707G>T	11.37:g.10506457G>T	ENSP00000379802:p.Gly236Val		10463033	A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140118	0.94560	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97365	0.9138	M	0.93939	3.475	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.938;1.0	D	0.97752	1.0215	10	0.87932	D	0	-24.3068	20.0893	0.97812	0.0:0.0:1.0:0.0	.	234;227;236	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	V	68;236;227;227;234;227	ENSP00000396000:G68V;ENSP00000379802:G236V;ENSP00000433284:G227V;ENSP00000379801:G227V;ENSP00000436987:G234V;ENSP00000431648:G227V	ENSP00000379801:G227V	G	+	2	0	AMPD3	10463033	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.761000	0.94854	0.655000	0.94253	GGC		0.577	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		T	10506457	G	T	10506457	3	4	22	1	0	0	0	0	1	0	0	0	587	1203	42	3	745	3	AMPD3	11	10506457	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10		10506457	124500059	21	1206											
OR10W1	81341	hgsc.bcm.edu	37	11	58034596	58034596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr11:58034596G>T	ENST00000395079.2	-	1	1136	c.735C>A	c.(733-735)tgC>tgA	p.C245*		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C245*(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TGAAGGCACAGCAGCCATACT	0.592																																																1	Substitution - Nonsense(1)	ovary(1)	11											80	76	77					11																	58034596		2201	4295	6496	57791172	SO:0001587	stop_gained	81341			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.735C>A	11.37:g.58034596G>T	ENSP00000378516:p.Cys245*		57791172	A2RUD2|A8MTE1|Q6UXQ2	Nonsense_Mutation	SNP	ENST00000395079.2	37	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131378	0.94473	.	.	ENSG00000172772	ENST00000395079	.	.	.	5.8	-6.83	0.01693	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	16.7264	0.85423	0.469:0.0:0.531:0.0	.	.	.	.	X	245	.	ENSP00000378516:C245X	C	-	3	2	OR10W1	57791172	0.000000	0.05858	0.231000	0.23993	0.641000	0.38312	-3.462000	0.00463	-1.412000	0.02030	-0.122000	0.15005	TGC		0.592	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		T	58034596	G	T	58034596	4	4	22	1	0	0	0	0	0	1	0	0	10921	963	34	3	186	3	OR10W1	11	58034596	Nonsense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10	47528139	58034596	76971920	22	1207											
ANKRD52	283373	hgsc.bcm.edu	37	12	56647530	56647530	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr12:56647530G>A	ENST00000267116.7	-	9	1082	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	321								p.R321C(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ATCTGGGAGCGTGTGAAACGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											110	121	117					12																	56647530		1932	4138	6070	54933797	SO:0001583	missense	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.961C>T	12.37:g.56647530G>A	ENSP00000267116:p.Arg321Cys		54933797	A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107604	0.77096	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.62639	0.01	4.62	4.62	0.57501	Ankyrin repeat-containing domain (4);	0.059138	0.64402	D	0.000001	T	0.30978	0.0782	N	0.00413	-1.525	0.80722	D	1	P	0.47545	0.897	B	0.40444	0.329	T	0.58148	-0.7687	10	0.54805	T	0.06	.	16.7736	0.85545	0.0:0.0:1.0:0.0	.	321	Q8NB46	ANR52_HUMAN	C	321	ENSP00000267116:R321C	ENSP00000267116:R321C	R	-	1	0	ANKRD52	54933797	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.428000	0.73383	2.553000	0.86117	0.655000	0.94253	CGC		0.488	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		A	56647530	G	A	56647530	3	1	22	1	0	0	0	0	1	0	0	0	678	1145	40	1	2349	1	ANKRD52	12	56647530	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10		56647530	77204365	23	1208											
STAB2	55576	hgsc.bcm.edu	37	12	104155079	104155079	+	Splice_Site	SNP	C	C	T	rs529403514		TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr12:104155079C>T	ENST00000388887.2	+	66	7454	c.7250C>T	c.(7249-7251)aCg>aTg	p.T2417M	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.T2417M(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTCCCTAGACGGAGACCAGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	12											143	123	130					12																	104155079		2203	4300	6503	102679209	SO:0001630	splice_region_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7249-1C>T	12.37:g.104155079C>T			102679209		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	4.164	0.028883	0.08054	.	.	ENSG00000136011	ENST00000388887	D	0.90676	-2.71	3.45	2.26	0.28386	FAS1 domain (4);	1.025530	0.07768	U	0.951213	D	0.83580	0.5285	L	0.29908	0.895	0.27552	N	0.950459	B	0.27380	0.177	B	0.19391	0.025	T	0.71417	-0.4599	10	0.46703	T	0.11	.	6.6327	0.22865	0.4311:0.4749:0.094:0.0	.	2417	Q8WWQ8	STAB2_HUMAN	M	2417	ENSP00000373539:T2417M	ENSP00000373539:T2417M	T	+	2	0	STAB2	102679209	0.100000	0.21855	0.884000	0.34674	0.300000	0.27592	0.113000	0.15499	0.229000	0.21039	-0.266000	0.10368	ACG		0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Missense_Mutation	T	104155079	C	T	104155079	5	4	22	1	0	0	0	0	0	0	1	0	15240	550	19	1	7512	1	STAB2	12	104155079	Splice_Site	SNP	C	TCGA-04-1514-01A-01W-0552-10	47507549	104155079	29696816	24	1209											
TMEM132D	121256	hgsc.bcm.edu	37	12	129558549	129558549	+	Missense_Mutation	SNP	G	G	T	rs74724941	byFrequency	TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr12:129558549G>T	ENST00000422113.2	-	9	3497	c.3171C>A	c.(3169-3171)gaC>gaA	p.D1057E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D595E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1057					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.D1057E(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGGGTACTCGTCGTCTGAGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	12											155	152	153					12																	129558549		2203	4300	6503	128124502	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3171C>A	12.37:g.129558549G>T	ENSP00000408581:p.Asp1057Glu		128124502	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	9.321	1.058107	0.19987	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.08720	3.06;3.86	4.16	-5.43	0.02632	.	0.175073	0.37577	N	0.002040	T	0.04137	0.0115	L	0.32530	0.975	0.09310	N	1	B;B	0.15719	0.014;0.009	B;B	0.16722	0.008;0.016	T	0.33497	-0.9866	9	.	.	.	-15.9856	4.171	0.10329	0.558:0.1066:0.2281:0.1073	.	1057;595	Q14C87;Q14C87-2	T132D_HUMAN;.	E	595;1057	ENSP00000374092:D595E;ENSP00000408581:D1057E	.	D	-	3	2	TMEM132D	128124502	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.923000	0.04000	-1.018000	0.03363	-0.244000	0.11960	GAC		0.512	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129558549	G	T	129558549	3	4	22	1	0	0	0	0	1	0	0	0	16047	1136	40	3	132	3	TMEM132D	12	129558549	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10	25403470	129558549	4293346	25	1210											
CHD8	57680	hgsc.bcm.edu	37	14	21870226	21870226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr14:21870226C>A	ENST00000557364.1	-	20	4215	c.3952G>T	c.(3952-3954)Gaa>Taa	p.E1318*	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Nonsense_Mutation_p.E1039*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.E1318*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1318					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.E1318*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCATCATCTTCCTCCATGATG	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	14											140	133	135					14																	21870226		2029	4222	6251	20940066	SO:0001587	stop_gained	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3952G>T	14.37:g.21870226C>A	ENSP00000451601:p.Glu1318*		20940066	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.114213|6.114213	0.97296|0.97296	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79997	.|0.4543	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76767	.|-0.2838	.|3	0.66056|.	D|.	0.02|.	-22.9691|-22.9691	19.6509|19.6509	0.95805|0.95805	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	1039;1318;1038;1318|543	.|.	ENSP00000262707:E1038X|.	E|G	-|-	1|2	0|0	CHD8|CHD8	20940066|20940066	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.776000|7.776000	0.85560|0.85560	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.388	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		A	21870226	C	A	21870226	4	1	22	1	0	0	0	0	0	1	0	0	3331	864	30	3	3869	3	CHD8	14	21870226	Nonsense_Mutation	SNP	C	TCGA-04-1514-01A-01W-0552-10		21870226	85479314	26	1211											
TP53	7157	hgsc.bcm.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	C			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr17:7578556T>C	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site	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						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	AGGGGAGTACTGTAGGAAGAG	0.552		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"	46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	17											41	42	41					17																	7578556		2203	4300	6503	7519281	SO:0001630	splice_region_variant	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.376-2A>G	17.37:g.7578556T>C			7519281	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336894	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7578556	T	C	7578556	5	2	22	1	0	0	0	0	0	0	1	0	16381	1594	55	4	924	4	TP53	17	7578556	Splice_Site	SNP	T	TCGA-04-1514-01A-01W-0552-10		7578556	73616654	27	1212											
ZNF333	84449	hgsc.bcm.edu	37	19	14828502	14828502	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr19:14828502G>C	ENST00000292530.6	+	11	948	c.857G>C	c.(856-858)aGc>aCc	p.S286T	ZNF333_ENST00000540689.2_Missense_Mutation_p.S286T|ZNF333_ENST00000536363.1_Missense_Mutation_p.S177T	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S286T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GCAATTCCTAGCCAAGATACT	0.433																																					NSCLC(60;75 1281 16985 25154 29885)											1	Substitution - Missense(1)	ovary(1)	19											141	127	132					19																	14828502		2203	4300	6503	14689502	SO:0001583	missense	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.857G>C	19.37:g.14828502G>C	ENSP00000292530:p.Ser286Thr		14689502	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	3.694	-0.063006	0.07273	.	.	ENSG00000160961	ENST00000536363;ENST00000540689;ENST00000292530	T;T;T	0.06294	3.32;5.86;3.38	2.91	-0.537	0.11872	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.44436	-0.9328	9	0.34782	T	0.22	.	3.5629	0.07889	0.4399:0.2088:0.3513:0.0	.	286	Q96JL9	ZN333_HUMAN	T	177;286;286	ENSP00000439749:S177T;ENSP00000438130:S286T;ENSP00000292530:S286T	ENSP00000292530:S286T	S	+	2	0	ZNF333	14689502	0.000000	0.05858	0.011000	0.14972	0.003000	0.03518	-0.013000	0.12678	-0.106000	0.12110	-0.228000	0.12330	AGC		0.433	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		C	14828502	G	C	14828502	3	2	22	1	0	0	0	0	1	0	0	0	17850	971	34	3	895	3	ZNF333	19	14828502	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10		14828502	44300481	28	1213											
ZNF211	10520	hgsc.bcm.edu	37	19	58153101	58153101	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chr19:58153101G>A	ENST00000347302.3	+	3	1426	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	ZNF211_ENST00000420680.1_Missense_Mutation_p.R420Q|ZNF211_ENST00000254182.7_Missense_Mutation_p.R407Q|ZNF211_ENST00000391703.3_Missense_Mutation_p.R355Q|ZNF211_ENST00000299871.5_Missense_Mutation_p.R481Q|ZNF211_ENST00000240731.4_Missense_Mutation_p.R429Q|ZNF211_ENST00000544273.1_Missense_Mutation_p.R428Q|ZNF211_ENST00000541801.1_Missense_Mutation_p.R407Q	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R429Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTCACCACCGGAGACTTCAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	19											67	71	70					19																	58153101		2203	4300	6503	62844913	SO:0001583	missense	10520			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1247G>A	19.37:g.58153101G>A	ENSP00000339562:p.Arg416Gln		62844913	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	g	2.481	-0.319679	0.05386	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19	3.38	-4.13	0.03904	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01287	0.0042	N	0.00926	-1.1	0.09310	N	1	B;B;P;B;B;B	0.43607	0.128;0.366;0.812;0.09;0.06;0.155	B;B;B;B;B;B	0.26693	0.011;0.034;0.072;0.005;0.019;0.019	T	0.39542	-0.9609	9	0.02654	T	1	.	6.0353	0.19704	0.658:0.0:0.186:0.156	.	420;428;481;407;416;429	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	Q	420;416;407;355;407;481;428;429	ENSP00000399193:R420Q;ENSP00000339562:R416Q;ENSP00000254182:R407Q;ENSP00000375584:R355Q;ENSP00000442601:R407Q;ENSP00000299871:R481Q;ENSP00000441386:R428Q;ENSP00000240731:R429Q	ENSP00000240731:R429Q	R	+	2	0	ZNF211	62844913	0.000000	0.05858	0.001000	0.08648	0.998000	0.95712	-0.422000	0.07043	-0.686000	0.05170	0.585000	0.79938	CGG		0.483	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			A	58153101	G	A	58153101	3	1	22	1	0	0	0	0	1	0	0	0	17767	1116	39	1	1300	1	ZNF211	19	58153101	Missense_Mutation	SNP	G	TCGA-04-1514-01A-01W-0552-10	43324599	58153101	975882	29	1214											
CXorf22	170063	hgsc.bcm.edu	37	X	35985797	35985797	+	Silent	SNP	C	C	T			TCGA-04-1514-01A-01W-0552-10	TCGA-04-1514-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	2394e0b8-ca4c-4b79-b25f-663828115eb7	789c4060-9897-42ad-abb8-e44d2740bc11	g.chrX:35985797C>T	ENST00000297866.5	+	10	1728	c.1662C>T	c.(1660-1662)cgC>cgT	p.R554R		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	554								p.R554R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGGCAAAACGCAAGAATTATG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	X											124	102	110					X																	35985797		2202	4300	6502	35895718	SO:0001819	synonymous_variant	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1662C>T	X.37:g.35985797C>T			35895718	Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	CCDS14237.2																																																																																				0.398	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		T	35985797	C	T	35985797	2	4	22	1	0	0	0	0	0	0	0	1	4102	697	25	2		2	CXorf22	23	35985797	Silent	SNP	C	TCGA-04-1514-01A-01W-0552-10		35985797	119284763	30	1215											
CROCC	9696	genome.wustl.edu	37	1	17274958	17274958	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr1:17274958G>C	ENST00000375541.5	+	18	2716	c.2647G>C	c.(2647-2649)Gtg>Ctg	p.V883L	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGGCCTGGCTGTGCAGCTGGT	0.721																																																0			1											11	11	11					1																	17274958		2135	4189	6324	17147545	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2647G>C	1.37:g.17274958G>C	ENSP00000364691:p.Val883Leu		17147545		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388525	0.61956	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.29397	1.57	4.21	4.21	0.49690	.	.	.	.	.	T	0.53142	0.1778	M	0.80616	2.505	0.50313	D	0.999867	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.53373	-0.8448	9	0.11794	T	0.64	.	14.9241	0.70862	0.0:0.0:1.0:0.0	.	186;883	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	L	883;764	ENSP00000364691:V883L	ENSP00000364691:V883L	V	+	1	0	CROCC	17147545	1.000000	0.71417	0.934000	0.37439	0.583000	0.36354	8.941000	0.92964	2.300000	0.77407	0.449000	0.29647	GTG		0.721	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		C	17274958	G	C	17274958	3	2	23	1	0	0	0	0	1	0	0	0	3893	1377	48	3	2717	3	CROCC	1	17274958	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09		17274958	231975663	1	1216											
COL9A2	1298	genome.wustl.edu	37	1	40777216	40777216	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr1:40777216G>A	ENST00000372748.3	-	10	571	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	159	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GTTCCCGGGCGACCCTGAGAG	0.632																																																0			1											77	79	79					1																	40777216		2203	4300	6503	40549803	SO:0001583	missense	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.475C>T	1.37:g.40777216G>A	ENSP00000361834:p.Arg159Cys		40549803	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.96|17.96	3.516716|3.516716	0.64634|0.64634	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748|ENST00000417105	D|.	0.94330|.	-3.4|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.131843|.	0.56097|.	D|.	0.000040|.	T|T	0.59824|0.59824	0.2222|0.2222	L|L	0.41415|0.41415	1.275|1.275	0.47905|0.47905	D|D	0.99954|0.99954	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.55095|0.55095	-0.8194|-0.8194	10|5	0.56958|.	D|.	0.05|.	.|.	15.02|15.02	0.71624|0.71624	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	159|.	Q14055|.	CO9A2_HUMAN|.	C|L	159|147	ENSP00000361834:R159C|.	ENSP00000361834:R159C|.	R|S	-|-	1|2	0|0	COL9A2|COL9A2	40549803|40549803	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.827000|0.827000	0.46813|0.46813	5.178000|5.178000	0.65037|0.65037	2.607000|2.607000	0.88179|0.88179	0.563000|0.563000	0.77884|0.77884	CGC|TCG		0.632	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		A	40777216	G	A	40777216	3	1	23	1	0	0	0	0	1	0	0	0	3708	1058	37	1	1686	1	COL9A2	1	40777216	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	23502258	40777216	208473405	2	1217											
SORT1	6272	genome.wustl.edu	37	1	109884644	109884644	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr1:109884644T>C	ENST00000256637.6	-	9	1158	c.1100A>G	c.(1099-1101)gAa>gGa	p.E367G	SORT1_ENST00000538502.1_Missense_Mutation_p.E230G	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	367					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACCTCCAGGTTCATCTACATG	0.453																																																0			1											139	130	133					1																	109884644		2203	4300	6503	109686167	SO:0001583	missense	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1100A>G	1.37:g.109884644T>C	ENSP00000256637:p.Glu367Gly		109686167	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	t	15.48	2.847232	0.51164	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.37235	1.21;1.21	5.88	4.73	0.59995	VPS10 (1);	0.258206	0.43747	D	0.000529	T	0.16599	0.0399	L	0.50333	1.59	0.58432	D	0.999995	B;P	0.43431	0.429;0.807	B;B	0.36134	0.108;0.218	T	0.02104	-1.1213	10	0.34782	T	0.22	-22.4955	12.1996	0.54317	0.0:0.0:0.1429:0.8571	.	230;367	B4DWI3;Q99523	.;SORT_HUMAN	G	367;230	ENSP00000256637:E367G;ENSP00000438597:E230G	ENSP00000256637:E367G	E	-	2	0	SORT1	109686167	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.287000	0.59001	1.024000	0.39682	0.370000	0.22315	GAA		0.453	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		C	109884644	T	C	109884644	3	2	23	1	0	0	0	0	1	0	0	0	14938	1783	62	4	1443	4	SORT1	1	109884644	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09	69107428	109884644	139365977	3	1218											
FAM5C	339479	genome.wustl.edu	37	1	190067300	190067300	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr1:190067300C>T	ENST00000367462.3	-	8	2380	c.2149G>A	c.(2149-2151)Ggt>Agt	p.G717S	BRINP3_ENST00000534846.1_Missense_Mutation_p.G615S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	717					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CGACGCTGACCAGGTGGGGAG	0.478																																																0			1											104	100	102					1																	190067300		2203	4300	6503	188333923	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2149G>A	1.37:g.190067300C>T	ENSP00000356432:p.Gly717Ser		188333923	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419231	0.83559	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21031	2.27;2.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.72894	2.215	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.63957	0.92;0.834	T	0.36890	-0.9729	10	0.72032	D	0.01	.	17.3704	0.87376	0.0:1.0:0.0:0.0	.	615;717	B7Z260;Q76B58	.;FAM5C_HUMAN	S	717;615	ENSP00000356432:G717S;ENSP00000438022:G615S	ENSP00000356432:G717S	G	-	1	0	FAM5C	188333923	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.734000	0.84928	2.695000	0.91970	0.650000	0.86243	GGT		0.478	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		T	190067300	C	T	190067300	3	4	23	1	0	0	0	0	1	0	0	0	5594	594	21	2	155	2	FAM5C	1	190067300	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	80182656	190067300	59183321	4	1219											
CAD	790	genome.wustl.edu	37	2	27465202	27465202	+	Silent	SNP	C	C	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr2:27465202C>T	ENST00000403525.1	+	39	6084	c.5940C>T	c.(5938-5940)atC>atT	p.I1980I	CAD_ENST00000264705.4_Silent_p.I2043I			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAGTGATCAATGCTGGGG	0.607																																																0			2											33	35	35					2																	27465202		2203	4300	6503	27318706	SO:0001819	synonymous_variant	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5940C>T	2.37:g.27465202C>T			27318706	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	9.990	1.230679	0.22542	.	.	ENSG00000084774	ENST00000428460	.	.	.	4.88	3.97	0.46021	.	.	.	.	.	T	0.62159	0.2405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59402	-0.7461	4	.	.	.	-5.0256	11.1056	0.48201	0.336:0.664:0.0:0.0	.	.	.	.	L	79	.	.	S	+	2	0	CAD	27318706	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	1.295000	0.33377	0.993000	0.38866	0.491000	0.48974	TCA		0.607	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			T	27465202	C	T	27465202	2	4	23	1	0	0	0	0	0	0	0	1	2565	816	29	2		2	CAD	2	27465202	Silent	SNP	C	TCGA-04-1516-01A-01D-1526-09		27465202	215734171	5	1220											
CSRNP3	80034	genome.wustl.edu	37	2	166532870	166532870	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr2:166532870C>A	ENST00000342316.4	+	4	729	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	CSRNP3_ENST00000409420.1_Missense_Mutation_p.L185M|CSRNP3_ENST00000314499.7_Missense_Mutation_p.L153M	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	153					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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CACTCTTACACTGGATGACAT	0.408																																																0			2											206	211	209					2																	166532870		2203	4300	6503	166241116	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.457C>A	2.37:g.166532870C>A	ENSP00000344042:p.Leu153Met		166241116	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703606	0.48412	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.77	2.86	0.33363	.	0.279990	0.35646	N	0.003068	T	0.25121	0.0610	M	0.63428	1.95	0.32593	N	0.526959	B	0.25441	0.126	B	0.34779	0.189	T	0.33111	-0.9881	10	0.49607	T	0.09	-10.1871	10.3115	0.43712	0.0:0.4873:0.3923:0.1203	.	153	Q8WYN3	CSRN3_HUMAN	M	153;160;153;153;185	ENSP00000412081:L153M;ENSP00000318258:L153M;ENSP00000344042:L153M;ENSP00000387195:L185M	ENSP00000318258:L153M	L	+	1	2	CSRNP3	166241116	0.978000	0.34361	0.986000	0.45419	0.966000	0.64601	1.856000	0.39389	1.575000	0.49775	-0.165000	0.13383	CTG		0.408	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		A	166532870	C	A	166532870	3	1	23	1	0	0	0	0	1	0	0	0	3965	564	20	3	467	3	CSRNP3	2	166532870	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	139067668	166532870	76666503	6	1221											
CCDC141	285025	genome.wustl.edu	37	2	179732906	179732906	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr2:179732906C>G	ENST00000420890.2	-	16	2538	c.2421G>C	c.(2419-2421)gaG>gaC	p.E807D	CCDC141_ENST00000295723.5_Missense_Mutation_p.E232D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	807								p.E232D(1)|p.E807D(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAAACTCCAGCTCTCTTGATT	0.433																																																2	Substitution - Missense(2)	lung(2)	2											103	94	97					2																	179732906		2203	4300	6503	179441151	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2421G>C	2.37:g.179732906C>G	ENSP00000395995:p.Glu807Asp		179441151	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	C	8.539	0.872730	0.17322	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.52057	0.68;1.28;1.28;1.26	5.5	-0.405	0.12392	.	0.310590	0.27253	N	0.020207	T	0.27063	0.0663	L	0.29908	0.895	0.22185	N	0.999302	B	0.13594	0.008	B	0.17433	0.018	T	0.08911	-1.0699	10	0.41790	T	0.15	-2.538	1.8641	0.03195	0.132:0.1525:0.1372:0.5783	.	232	Q6ZP82	CC141_HUMAN	D	807;251;232;807	ENSP00000395995:E807D;ENSP00000344627:E251D;ENSP00000295723:E232D;ENSP00000390190:E807D	ENSP00000295723:E232D	E	-	3	2	CCDC141	179441151	0.998000	0.40836	0.022000	0.16811	0.483000	0.33249	1.075000	0.30716	-0.158000	0.11040	-1.402000	0.01139	GAG		0.433	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		G	179732906	C	G	179732906	3	3	23	1	0	0	0	0	1	0	0	0	2775	796	28	3	1963	3	CCDC141	2	179732906	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	13200036	179732906	63466467	7	1222											
STK36	27148	genome.wustl.edu	37	2	219549830	219549830	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr2:219549830G>C	ENST00000295709.3	+	11	1538	c.1259G>C	c.(1258-1260)tGg>tCg	p.W420S	STK36_ENST00000392106.2_Missense_Mutation_p.W420S|STK36_ENST00000392105.3_Missense_Mutation_p.W420S|STK36_ENST00000440309.1_Missense_Mutation_p.W420S	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GACAATGAGTGGCAGCACCTG	0.527																																																0			2											108	90	96					2																	219549830		2203	4300	6503	219258074	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1259G>C	2.37:g.219549830G>C	ENSP00000295709:p.Trp420Ser		219258074		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188454	0.57909	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.75589	-0.32;-0.32;-0.95;-0.32	5.02	5.02	0.67125	.	0.000000	0.39544	N	0.001321	T	0.80177	0.4575	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82010	-0.0669	10	0.62326	D	0.03	-8.7512	17.5159	0.87773	0.0:0.0:1.0:0.0	.	420;420	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	S	420	ENSP00000295709:W420S;ENSP00000375955:W420S;ENSP00000375954:W420S;ENSP00000394095:W420S	ENSP00000295709:W420S	W	+	2	0	STK36	219258074	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	6.700000	0.74619	2.608000	0.88229	0.650000	0.86243	TGG		0.527	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			C	219549830	G	C	219549830	3	2	23	1	0	0	0	0	1	0	0	0	15304	1357	47	3	1297	3	STK36	2	219549830	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	39816924	219549830	23649543	8	1223											
NEK4	6787	genome.wustl.edu	37	3	52771610	52771610	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr3:52771610C>T	ENST00000233027.5	-	15	2627	c.2425G>A	c.(2425-2427)Gat>Aat	p.D809N	NEK4_ENST00000383721.4_Missense_Mutation_p.D763N|NEK4_ENST00000535191.1_Missense_Mutation_p.D720N	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	809					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ACCTCTCTATCAAATTCATCC	0.363																																																0			3											139	126	131					3																	52771610		2203	4300	6503	52746650	SO:0001583	missense	6787			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2425G>A	3.37:g.52771610C>T	ENSP00000233027:p.Asp809Asn		52746650	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524054	0.27299	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72505	-0.59;-0.66;-0.62;-0.63	5.73	-2.55	0.06288	.	0.613865	0.15797	N	0.244161	T	0.46541	0.1398	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23540	0.087;0.066;0.062	B;B;B	0.23716	0.048;0.019;0.03	T	0.35025	-0.9805	10	0.62326	D	0.03	.	5.6861	0.17803	0.0:0.2169:0.4026:0.3805	.	720;763;809	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	N	809;720;763;720	ENSP00000233027:D809N;ENSP00000437703:D720N;ENSP00000373227:D763N;ENSP00000419666:D720N	ENSP00000233027:D809N	D	-	1	0	NEK4	52746650	0.044000	0.20184	0.020000	0.16555	0.235000	0.25334	0.238000	0.18004	-0.311000	0.08754	-0.882000	0.02950	GAT		0.363	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		T	52771610	C	T	52771610	3	4	23	1	0	0	0	0	1	0	0	0	10326	826	29	2	108	2	NEK4	3	52771610	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09		52771610	145250820	9	1224											
BBX	56987	genome.wustl.edu	37	3	107435527	107435527	+	Missense_Mutation	SNP	G	G	A	rs76764171	byFrequency	TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr3:107435527G>A	ENST00000325805.8	+	5	523	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	BBX_ENST00000406780.1_Missense_Mutation_p.R79Q|BBX_ENST00000416476.2_Missense_Mutation_p.R79Q|BBX_ENST00000415149.2_Missense_Mutation_p.R79Q|BBX_ENST00000402543.1_Missense_Mutation_p.R79Q			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	79					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)			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)			CCAGAGCAGCGAGCCCGGAGA	0.478													G|||	2	0.000399361	0	0	5008	,	,		17738	0		0.002	False		,,,				2504	0															0			3						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	127	117	120		236,236	4.2	1	3	dbSNP_131	120	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	BBX	NM_001142568.1,NM_020235.5	43,43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	79/942,79/912	107435527	3,13003	2203	4300	6503	108918217	SO:0001583	missense	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.236G>A	3.37:g.107435527G>A	ENSP00000319974:p.Arg79Gln		108918217	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	29.4	5.004671	0.93287	0.0	3.49E-4	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000431630;ENST00000449335;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000449213;ENST00000457496;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98792	-4.73;-4.74;-4.74;-5.05;-5.09;-3.36;-3.36;-5.05;-5.14;-4.73;-3.36;-3.36;-4.62;-4.63	5.06	4.17	0.49024	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.062516	0.64402	D	0.000004	D	0.98333	0.9447	L	0.32530	0.975	0.48571	D	0.999679	D;D;D;D	0.89917	1.0;1.0;0.958;0.999	D;D;P;D	0.85130	0.996;0.997;0.653;0.988	D	0.99874	1.1101	10	0.87932	D	0	-1.1778	15.7402	0.77887	0.0:0.1371:0.8629:0.0	.	79;79;79;79	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	Q	79;79;79;79;79;109;79;79;79;79;79;79;79;79;79;79;79	ENSP00000408358:R79Q;ENSP00000385317:R79Q;ENSP00000319974:R79Q;ENSP00000413320:R79Q;ENSP00000403860:R79Q;ENSP00000408297:R79Q;ENSP00000404654:R79Q;ENSP00000413274:R79Q;ENSP00000385518:R79Q;ENSP00000385530:R79Q;ENSP00000403806:R79Q;ENSP00000406554:R79Q;ENSP00000407662:R79Q;ENSP00000414673:R79Q	ENSP00000319974:R79Q	R	+	2	0	BBX	108918217	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	1.235000	0.43724	0.460000	0.39030	CGA		0.478	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		A	107435527	G	A	107435527	3	1	23	1	0	0	0	0	1	0	0	0	1343	1058	37	1	242	1	BBX	3	107435527	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	54663917	107435527	90586903	10	1225											
GOLGB1	2804	genome.wustl.edu	37	3	121448761	121448761	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr3:121448761A>G	ENST00000340645.5	-	3	325	c.200T>C	c.(199-201)aTt>aCt	p.I67T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.I67T|GOLGB1_ENST00000472829.1_5'UTR	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	67					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTGTCTAATAATATCTTTTAG	0.383																																																0			3											164	153	157					3																	121448761		2203	4300	6503	122931451	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.200T>C	3.37:g.121448761A>G	ENSP00000341848:p.Ile67Thr		122931451	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	A	6.554	0.470411	0.12461	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.24723	2.47;2.47;1.84	5.25	2.81	0.32909	.	1.316990	0.04944	N	0.459067	T	0.24547	0.0595	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P	0.35272	0.493;0.493;0.493;0.493;0.493	B;B;B;B;B	0.34242	0.053;0.178;0.053;0.053;0.053	T	0.26087	-1.0113	10	0.13853	T	0.58	.	5.4821	0.16729	0.7341:0.175:0.0908:0.0	.	28;67;67;67;67	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	T	67	ENSP00000341848:I67T;ENSP00000377275:I67T;ENSP00000418231:I67T	ENSP00000341848:I67T	I	-	2	0	GOLGB1	122931451	0.151000	0.22747	0.005000	0.12908	0.790000	0.44656	3.130000	0.50508	0.383000	0.24910	0.477000	0.44152	ATT		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		G	121448761	A	G	121448761	3	3	23	1	0	0	0	0	1	0	0	0	6565	101	4	4	9659	4	GOLGB1	3	121448761	Missense_Mutation	SNP	A	TCGA-04-1516-01A-01D-1526-09	14013234	121448761	76573669	11	1226											
ACAD11	84129	genome.wustl.edu	37	3	132350184	132350184	+	Splice_Site	SNP	C	C	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr3:132350184C>T	ENST00000264990.6	-	6	1813		c.e6+1		ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Splice_Site|ACAD11_ENST00000545291.1_Splice_Site|ACAD11_ENST00000355458.3_Splice_Site	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11						fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGTTTTTATACCTGAGTTTTC	0.274																																																0			3											47	50	49					3																	132350184		2203	4300	6503	133832874	SO:0001630	splice_region_variant	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.841+1G>A	3.37:g.132350184C>T			133832874	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Splice_Site	SNP	ENST00000264990.6	37	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523396	0.27299	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4893	0.90841	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACAD11	133832874	1.000000	0.71417	0.983000	0.44433	0.074000	0.17049	5.590000	0.67530	2.608000	0.88229	0.591000	0.81541	.		0.274	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	Intron	T	132350184	C	T	132350184	5	4	23	1	0	0	0	0	0	0	1	0	109	521	18	2	1560	2	ACAD11	3	132350184	Splice_Site	SNP	C	TCGA-04-1516-01A-01D-1526-09	10901423	132350184	65672246	12	1227											
XRN1	54464	genome.wustl.edu	37	3	142099015	142099015	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr3:142099015T>A	ENST00000264951.4	-	23	2741	c.2624A>T	c.(2623-2625)gAt>gTt	p.D875V	XRN1_ENST00000392981.2_Missense_Mutation_p.D875V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	875					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATCACCTGAATCCTGAACCTT	0.323																																																0			3											86	78	81					3																	142099015		2203	4300	6503	143581705	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2624A>T	3.37:g.142099015T>A	ENSP00000264951:p.Asp875Val		143581705	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662802	0.47572	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32515	1.45;1.45	5.37	4.18	0.49190	.	0.109600	0.64402	N	0.000010	T	0.36826	0.0981	M	0.79693	2.465	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.12156	0.007;0.007;0.005	T	0.20907	-1.0261	10	0.54805	T	0.06	-6.5816	11.4739	0.50286	0.1349:0.0:0.0:0.8651	.	736;875;875	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	V	875	ENSP00000264951:D875V;ENSP00000376707:D875V	ENSP00000264951:D875V	D	-	2	0	XRN1	143581705	1.000000	0.71417	0.991000	0.47740	0.803000	0.45373	6.162000	0.71874	0.843000	0.35070	0.477000	0.44152	GAT		0.323	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		A	142099015	T	A	142099015	3	1	23	1	0	0	0	0	1	0	0	0	17459	1435	50	5	2576	5	XRN1	3	142099015	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09	9748831	142099015	55923415	13	1228											
CPA3	1359	genome.wustl.edu	37	3	148614446	148614446	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr3:148614446G>A	ENST00000296046.3	+	11	1258	c.1206G>A	c.(1204-1206)atG>atA	p.M402I	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	402					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAGAGACCATGCTAGCTGTCA	0.418																																																0			3											112	115	114					3																	148614446		2203	4300	6503	150097136	SO:0001583	missense	1359				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.1206G>A	3.37:g.148614446G>A	ENSP00000296046:p.Met402Ile		150097136	Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285230	0.59867	.	.	ENSG00000163751	ENST00000296046	T	0.10668	2.85	5.37	5.37	0.77165	Peptidase M14, carboxypeptidase A (1);	0.088046	0.85682	D	0.000000	T	0.18676	0.0448	M	0.70275	2.135	0.54753	D	0.99998	B	0.21452	0.056	B	0.34873	0.191	T	0.01829	-1.1265	10	0.41790	T	0.15	.	12.9155	0.58203	0.0:0.0:0.8374:0.1626	.	402	P15088	CBPA3_HUMAN	I	402	ENSP00000296046:M402I	ENSP00000296046:M402I	M	+	3	0	CPA3	150097136	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.743000	0.47442	2.528000	0.85240	0.591000	0.81541	ATG		0.418	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		A	148614446	G	A	148614446	3	1	23	1	0	0	0	0	1	0	0	0	3791	1319	46	2	1248	2	CPA3	3	148614446	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	6515431	148614446	49407984	14	1229											
MED12L	116931	genome.wustl.edu	37	3	150911398	150911398	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr3:150911398C>G	ENST00000474524.1	+	14	2128	c.2090C>G	c.(2089-2091)tCt>tGt	p.S697C	MED12L_ENST00000273432.4_Missense_Mutation_p.S557C|MED12L_ENST00000309237.4_Missense_Mutation_p.S732C|MED12L_ENST00000422248.2_Missense_Mutation_p.S697C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	697						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTTTCCATCTAATTATGAC	0.378																																																0			3											135	135	135					3																	150911398		2203	4300	6503	152394088	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2090C>G	3.37:g.150911398C>G	ENSP00000417235:p.Ser697Cys		152394088	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.075591|4.075591	0.76415|0.76415	.|.	.|.	ENSG00000144893|ENSG00000144893	ENST00000480026|ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	.|T;T;T;T	.|0.33216	.|1.42;1.42;1.42;1.42	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Mediator complex, subunit Med12, LCEWAV-domain (1);	.|0.323795	.|0.32473	.|N	.|0.006050	T|T	0.54095|0.54095	0.1837|0.1837	L|L	0.58101|0.58101	1.795|1.795	0.52501|0.52501	D|D	0.999957|0.999957	.|P;D;D;D	.|0.76494	.|0.931;0.999;0.999;0.988	.|P;D;D;P	.|0.83275	.|0.77;0.996;0.995;0.708	T|T	0.52003|0.52003	-0.8633|-0.8633	5|10	.|0.52906	.|T	.|0.07	-7.2714|-7.2714	18.9155|18.9155	0.92505|0.92505	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|557;697;697;732	.|F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.|.;MD12L_HUMAN;.;.	M|C	46|697;732;697;557	.|ENSP00000403308:S697C;ENSP00000310760:S732C;ENSP00000417235:S697C;ENSP00000273432:S557C	.|ENSP00000273432:S557C	I|S	+|+	3|2	3|0	MED12L|MED12L	152394088|152394088	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	3.227000|3.227000	0.51262|0.51262	2.615000|2.615000	0.88500|0.88500	0.609000|0.609000	0.83330|0.83330	ATC|TCT		0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		G	150911398	C	G	150911398	3	3	23	1	0	0	0	0	1	0	0	0	9429	913	32	3	2144	3	MED12L	3	150911398	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	2296952	150911398	47111032	15	1230											
MME	4311	genome.wustl.edu	37	3	154834774	154834774	+	Splice_Site	SNP	A	A	C	rs142506311		TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr3:154834774A>C	ENST00000460393.1	+	7	773	c.653A>C	c.(652-654)cAt>cCt	p.H218P	MME_ENST00000462745.1_Splice_Site_p.H218P|MME_ENST00000360490.2_Splice_Site_p.H218P|MME_ENST00000492661.1_Splice_Site_p.H218P|MME_ENST00000493237.1_Splice_Site_p.H218P	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	218					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CATGTAATTCATGTAAGTTTG	0.264																																																0			3											49	51	50					3																	154834774		2201	4295	6496	156317468	SO:0001630	splice_region_variant	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.654+1A>C	3.37:g.154834774A>C			156317468	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220059	0.79464	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	6.08	6.08	0.98989	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.84747	0.0754	10	0.51188	T	0.08	-37.1974	16.6512	0.85203	1.0:0.0:0.0:0.0	.	218	P08473	NEP_HUMAN	P	218	ENSP00000420389:H218P;ENSP00000418525:H218P;ENSP00000420101:H218P;ENSP00000419653:H218P;ENSP00000417079:H218P;ENSP00000353679:H218P	ENSP00000353679:H218P	H	+	2	0	MME	156317468	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.548000	0.90669	2.333000	0.79357	0.482000	0.46254	CAT		0.264	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	Missense_Mutation	C	154834774	A	C	154834774	5	2	23	1	0	0	0	0	0	0	1	0	9645	231	8	5	675	5	MME	3	154834774	Splice_Site	SNP	A	TCGA-04-1516-01A-01D-1526-09	3923376	154834774	43187656	16	1231											
EIF2B5	8893	genome.wustl.edu	37	3	183858305	183858305	+	Missense_Mutation	SNP	C	C	T	rs113994063		TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr3:183858305C>T	ENST00000273783.3	+	7	1065	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	EIF2B5_ENST00000444495.1_Missense_Mutation_p.R315C	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	315			R -> C (in VWM). {ECO:0000269|PubMed:19158808}.|R -> G (in VWM). {ECO:0000269|PubMed:11704758}.|R -> H (in VWM). {ECO:0000269|PubMed:11704758}.		astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.R315S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGACGTCATCCGCCGATGGGT	0.562																																																1	Substitution - Missense(1)	lung(1)	3	GRCh37	CM013536|CM041320	EIF2B5	M	rs113994063						242	228	233					3																	183858305		2203	4300	6503	185340999	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.943C>T	3.37:g.183858305C>T	ENSP00000273783:p.Arg315Cys		185340999	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	28.2	4.898222	0.91962	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.96136	-3.92;-3.92	5.8	5.8	0.92144	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	M	0.79475	2.455	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.51657	0.676;0.642	D	0.96473	0.9350	10	0.62326	D	0.03	.	16.3538	0.83227	0.1324:0.8676:0.0:0.0	.	315;315	E9PC74;Q13144	.;EI2BE_HUMAN	C	315;315;71	ENSP00000273783:R315C;ENSP00000409142:R315C	ENSP00000273783:R315C	R	+	1	0	EIF2B5	185340999	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.897000	0.63231	2.746000	0.94184	0.563000	0.77884	CGC		0.562	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			T	183858305	C	T	183858305	3	4	23	1	0	0	0	0	1	0	0	0	5004	652	23	1	969	1	EIF2B5	3	183858305	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	29023531	183858305	14164125	17	1232											
TMEM154	201799	genome.wustl.edu	37	4	153601074	153601074	+	Silent	SNP	G	G	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr4:153601074G>C	ENST00000304385.3	-	1	243	c.12C>G	c.(10-12)ccC>ccG	p.P4P	TMEM154_ENST00000504064.1_Silent_p.P4P	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	4						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGGCTGCGCGGGGAGCCTGCA	0.637																																																0			4											11	15	13					4																	153601074		2190	4286	6476	153820524	SO:0001819	synonymous_variant	201799			AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.12C>G	4.37:g.153601074G>C			153820524	Q8WUT7|Q96MQ8	Silent	SNP	ENST00000304385.3	37	CCDS3779.1																																																																																				0.637	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365024.1	NM_152680		C	153601074	G	C	153601074	2	2	23	1	0	0	0	0	0	0	0	1	16071	1219	43	3		3	TMEM154	4	153601074	Silent	SNP	G	TCGA-04-1516-01A-01D-1526-09		153601074	37553202	18	1233											
ADAMTS12	81792	genome.wustl.edu	37	5	33577049	33577049	+	Missense_Mutation	SNP	T	T	C	rs200132406		TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr5:33577049T>C	ENST00000504830.1	-	19	3417	c.3082A>G	c.(3082-3084)Agg>Ggg	p.R1028G	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R943G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1028	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATTCTGGGCCTGGATGTAGGT	0.527										HNSCC(64;0.19)			T|||	1	0.000199681	0	0	5008	,	,		21571	0.001		0	False		,,,				2504	0															0			5											141	134	137					5																	33577049		2203	4300	6503	33612806	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3082A>G	5.37:g.33577049T>C	ENSP00000422554:p.Arg1028Gly		33612806	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	0.686	-0.796495	0.02862	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59502	0.27;0.26	5.3	-1.38	0.09027	.	0.881988	0.10529	N	0.664033	T	0.35770	0.0943	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.17349	-1.0372	10	0.22706	T	0.39	.	5.5417	0.17041	0.0:0.2868:0.1346:0.5786	.	943;1028	P58397-3;P58397	.;ATS12_HUMAN	G	1028;943	ENSP00000422554:R1028G;ENSP00000344847:R943G	ENSP00000344847:R943G	R	-	1	2	ADAMTS12	33612806	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.293000	0.19029	-0.357000	0.08175	-0.899000	0.02877	AGG		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		C	33577049	T	C	33577049	3	2	23	1	0	0	0	0	1	0	0	0	257	1579	55	4	1726	4	ADAMTS12	5	33577049	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09		33577049	147338211	19	1234											
SLC1A3	6507	genome.wustl.edu	37	5	36629575	36629575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr5:36629575C>T	ENST00000265113.4	+	3	681	c.205C>T	c.(205-207)Cga>Tga	p.R69*	SLC1A3_ENST00000381918.3_Nonsense_Mutation_p.R69*	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	69					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTACCCTCCGACCATACAG	0.393																																																0			5											145	130	135					5																	36629575		2203	4300	6503	36665332	SO:0001587	stop_gained	6507				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.205C>T	5.37:g.36629575C>T	ENSP00000265113:p.Arg69*		36665332	B2R5T3|Q4JCQ8	Nonsense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	C	39	7.424625	0.98275	.	.	ENSG00000079215	ENST00000265113;ENST00000513903;ENST00000505202;ENST00000513646;ENST00000381918	.	.	.	5.95	4.1	0.47936	.	0.064020	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4246	15.1983	0.73112	0.2571:0.7429:0.0:0.0	.	.	.	.	X	69	.	ENSP00000265113:R69X	R	+	1	2	SLC1A3	36665332	0.998000	0.40836	0.986000	0.45419	0.991000	0.79684	2.143000	0.42187	0.771000	0.33359	0.655000	0.94253	CGA		0.393	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		T	36629575	C	T	36629575	4	4	23	1	0	0	0	0	0	1	0	0	14436	644	23	1	228	1	SLC1A3	5	36629575	Nonsense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	3052526	36629575	144285685	20	1235											
EGFLAM	133584	genome.wustl.edu	37	5	38337712	38337712	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr5:38337712G>C	ENST00000354891.3	+	2	534	c.188G>C	c.(187-189)aGt>aCt	p.S63T	EGFLAM_ENST00000322350.5_Missense_Mutation_p.S63T	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	63	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATCCTGGAAGTCCCATCCTT	0.522																																					Colon(62;485 1295 3347 17454)											0			5											93	68	76					5																	38337712		2203	4299	6502	38373469	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.188G>C	5.37:g.38337712G>C	ENSP00000346964:p.Ser63Thr		38373469	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974212	0.34848	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.55413	0.52;0.52	5.71	1.7	0.24286	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.090770	0.85682	D	0.000000	T	0.54191	0.1843	M	0.71036	2.16	0.09310	N	0.999999	P;P	0.42161	0.772;0.554	P;B	0.45660	0.489;0.282	T	0.50030	-0.8875	10	0.56958	D	0.05	-5.8552	9.3701	0.38248	0.3214:0.0:0.6786:0.0	.	63;63	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	T	63	ENSP00000346964:S63T;ENSP00000313084:S63T	ENSP00000313084:S63T	S	+	2	0	EGFLAM	38373469	0.200000	0.23398	0.003000	0.11579	0.457000	0.32468	1.567000	0.36407	0.660000	0.30964	0.655000	0.94253	AGT		0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		C	38337712	G	C	38337712	3	2	23	1	0	0	0	0	1	0	0	0	4966	1029	36	3	194	3	EGFLAM	5	38337712	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	1708137	38337712	142577548	21	1236											
FGF10	2255	genome.wustl.edu	37	5	44305163	44305163	+	Silent	SNP	C	C	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr5:44305163C>T	ENST00000264664.4	-	3	675	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	187					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCTGTCCTCTCCTTGGAGCTC	0.433																																																0			5											297	254	268					5																	44305163		2203	4300	6503	44340920	SO:0001819	synonymous_variant	2255				CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.561G>A	5.37:g.44305163C>T			44340920	C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	ENST00000264664.4	37	CCDS3950.1																																																																																				0.433	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		T	44305163	C	T	44305163	2	4	23	1	0	0	0	0	0	0	0	1	5839	854	30	2		2	FGF10	5	44305163	Silent	SNP	C	TCGA-04-1516-01A-01D-1526-09	5967451	44305163	136610097	22	1237											
FEM1C	56929	genome.wustl.edu	37	5	114860860	114860860	+	Silent	SNP	A	A	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr5:114860860A>T	ENST00000274457.3	-	3	1560	c.999T>A	c.(997-999)tcT>tcA	p.S333S		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	333					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TATCAGGATGAGAAGGACCAA	0.408																																																0			5											126	128	127					5																	114860860		2202	4300	6502	114888759	SO:0001819	synonymous_variant	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.999T>A	5.37:g.114860860A>T			114888759	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	ENST00000274457.3	37	CCDS4118.1																																																																																				0.408	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		T	114860860	A	T	114860860	2	4	23	1	0	0	0	0	0	0	0	1	5811	291	11	5		5	FEM1C	5	114860860	Silent	SNP	A	TCGA-04-1516-01A-01D-1526-09	70555697	114860860	66054400	23	1238											
AGXT2L2	85007	genome.wustl.edu	37	5	177658437	177658437	+	Silent	SNP	T	T	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr5:177658437T>C	ENST00000308158.5	-	2	381	c.147A>G	c.(145-147)gaA>gaG	p.E49E	PHYKPL_ENST00000481811.1_5'Flank|PHYKPL_ENST00000476170.2_Silent_p.E49E	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	49						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	AATCGATGTATTCTGCCCCCT	0.557																																																0			5											267	209	229					5																	177658437		2203	4300	6503	177591043	SO:0001819	synonymous_variant	85007			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.147A>G	5.37:g.177658437T>C			177591043	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	ENST00000308158.5	37	CCDS4434.1																																																																																				0.557	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		C	177658437	T	C	177658437	2	2	23	1	0	0	0	0	0	0	0	1	407	1490	52	4		4	AGXT2L2	5	177658437	Silent	SNP	T	TCGA-04-1516-01A-01D-1526-09	62797577	177658437	3256823	24	1239											
SKIV2L	6499	genome.wustl.edu	37	6	31928034	31928034	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr6:31928034G>T	ENST00000375394.2	+	4	387	c.274G>T	c.(274-276)Gct>Tct	p.A92S	SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000444811.2_5'Flank|NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000375425.5_5'Flank|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	92					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTCTCTTTTGGCTGTCCTGGG	0.522																																																0			6											144	177	165					6																	31928034		1511	2709	4220	32036013	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.274G>T	6.37:g.31928034G>T	ENSP00000364543:p.Ala92Ser		32036013	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	0.105	-1.145878	0.01714	.	.	ENSG00000204351	ENST00000375394	T	0.41065	1.01	4.61	-0.44	0.12261	.	0.896569	0.09693	N	0.768046	T	0.05364	0.0142	N	0.11427	0.14	0.20074	N	0.999935	B	0.06786	0.001	B	0.09377	0.004	T	0.39663	-0.9603	10	0.11182	T	0.66	-0.9941	3.5588	0.07874	0.3193:0.0:0.3882:0.2926	.	92	Q15477	SKIV2_HUMAN	S	92	ENSP00000364543:A92S	ENSP00000364543:A92S	A	+	1	0	SKIV2L	32036013	0.044000	0.20184	0.032000	0.17829	0.181000	0.23173	0.252000	0.18278	-0.313000	0.08728	0.655000	0.94253	GCT		0.522	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			T	31928034	G	T	31928034	3	4	23	1	0	0	0	0	1	0	0	0	14362	1203	42	3	288	3	SKIV2L	6	31928034	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09		31928034	139187033	25	1240											
HOXA1	3198	genome.wustl.edu	37	7	27135101	27135101	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr7:27135101T>A	ENST00000343060.4	-	1	492	c.431A>T	c.(430-432)cAc>cTc	p.H144L	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Intron|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	144	Poly-His.				abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGTGGTGGTGGTGATGCTG	0.562																																																0			7											67	69	68					7																	27135101		2203	4300	6503	27101626	SO:0001583	missense	3198				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.431A>T	7.37:g.27135101T>A	ENSP00000343246:p.His144Leu		27101626	A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	T	8.859	0.946373	0.18356	.	.	ENSG00000105991	ENST00000343060	T	0.28666	1.6	4.88	4.88	0.63580	.	0.222920	0.37906	N	0.001887	T	0.36580	0.0972	L	0.40543	1.245	0.80722	D	1	P	0.50156	0.932	P	0.58520	0.84	T	0.07539	-1.0767	10	0.07990	T	0.79	.	12.4806	0.55839	0.0:0.0:0.0:1.0	.	144	P49639	HXA1_HUMAN	L	144	ENSP00000343246:H144L	ENSP00000343246:H144L	H	-	2	0	HOXA1	27101626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.216000	0.42871	2.056000	0.61249	0.379000	0.24179	CAC		0.562	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			A	27135101	T	A	27135101	3	1	23	1	0	0	0	0	1	0	0	0	7288	1696	59	5	584	5	HOXA1	7	27135101	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09		27135101	132003562	26	1241											
HSPB1	3315	genome.wustl.edu	37	7	75932058	75932058	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr7:75932058T>A	ENST00000248553.6	+	1	198	c.29T>A	c.(28-30)cTc>cAc	p.L10H	HSPB1_ENST00000429938.1_5'Flank	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	10				L -> I (in Ref. 13; AA sequence). {ECO:0000305}.	cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)			large_intestine(1)|lung(3)	4						CCCTTCTCGCTCCTGCGGGGC	0.692																																																0			7											9	13	12					7																	75932058		2116	4207	6323	75769994	SO:0001583	missense	3315			X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"Heat shock proteins / HSPB"	5246	protein-coding gene	gene with protein product		602195	"heat shock 27kD protein 1"			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.29T>A	7.37:g.75932058T>A	ENSP00000248553:p.Leu10His		75769994	B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Missense_Mutation	SNP	ENST00000248553.6	37	CCDS5583.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.992977	0.93167	.	.	ENSG00000106211	ENST00000248553;ENST00000432276	D	0.90069	-2.61	4.88	4.88	0.63580	.	0.269200	0.36628	N	0.002490	D	0.92344	0.7571	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	P	0.62740	0.906	D	0.93077	0.6488	10	0.72032	D	0.01	-38.5058	13.8593	0.63550	0.0:0.0:0.0:1.0	.	10	P04792	HSPB1_HUMAN	H	10	ENSP00000248553:L10H	ENSP00000248553:L10H	L	+	2	0	HSPB1	75769994	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.446000	0.60014	2.057000	0.61298	0.459000	0.35465	CTC		0.692	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252958.1			A	75932058	T	A	75932058	3	1	23	1	0	0	0	0	1	0	0	0	7418	1551	54	5	31	5	HSPB1	7	75932058	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09	48796957	75932058	83206605	27	1242											
FOXP2	93986	genome.wustl.edu	37	7	114282559	114282559	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr7:114282559C>A	ENST00000393494.2	+	7	1149	c.870C>A	c.(868-870)gaC>gaA	p.D290E	FOXP2_ENST00000393489.3_Missense_Mutation_p.D198E|FOXP2_ENST00000378237.3_Missense_Mutation_p.D290E|FOXP2_ENST00000408937.3_Missense_Mutation_p.D315E|FOXP2_ENST00000403559.4_Missense_Mutation_p.D307E|FOXP2_ENST00000393491.3_Missense_Mutation_p.D198E|FOXP2_ENST00000393498.2_Missense_Mutation_p.D269E|FOXP2_ENST00000390668.3_Missense_Mutation_p.D314E|FOXP2_ENST00000393500.3_Missense_Mutation_p.D215E|FOXP2_ENST00000360232.4_Missense_Mutation_p.D290E|FOXP2_ENST00000350908.4_Missense_Mutation_p.D290E			O15409	FOXP2_HUMAN	forkhead box P2	290				DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439). {ECO:0000305}.	camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAGGGCTAGACCTCACTACTA	0.438																																																0			7											236	206	216					7																	114282559		2203	4300	6503	114069795	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.870C>A	7.37:g.114282559C>A	ENSP00000377132:p.Asp290Glu		114069795	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986948	0.93106	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000393495;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.86	4.86	0.63082	.	0.085675	0.85682	D	0.000000	T	0.65626	0.2709	M	0.73962	2.25	0.80722	D	1	D;D;P;D;D;D;D	0.61697	0.984;0.984;0.953;0.975;0.99;0.984;0.99	D;D;D;P;D;D;D	0.70935	0.935;0.935;0.935;0.714;0.971;0.935;0.971	T	0.70208	-0.4935	10	0.72032	D	0.01	.	18.3604	0.90372	0.0:1.0:0.0:0.0	.	289;307;198;290;314;290;315	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	E	215;290;315;307;290;267;290;198;290;147;314;198	ENSP00000377137:D215E;ENSP00000377132:D290E;ENSP00000386200:D315E;ENSP00000385069:D307E;ENSP00000265436:D290E;ENSP00000367482:D290E;ENSP00000377129:D198E;ENSP00000353367:D290E;ENSP00000375084:D314E;ENSP00000377130:D198E	ENSP00000265436:D290E	D	+	3	2	FOXP2	114069795	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.442000	0.80503	2.410000	0.81850	0.460000	0.39030	GAC		0.438	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		A	114282559	C	A	114282559	3	1	23	1	0	0	0	0	1	0	0	0	6027	506	18	3	1026	3	FOXP2	7	114282559	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	38350501	114282559	44856104	28	1243											
ZNF212	7988	genome.wustl.edu	37	7	148950948	148950948	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr7:148950948G>C	ENST00000335870.2	+	5	1058	c.930G>C	c.(928-930)aaG>aaC	p.K310N		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGCTGAAAAAGGACACTTCCC	0.567																																																0			7											51	52	52					7																	148950948		2203	4300	6503	148581881	SO:0001583	missense	7988			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.930G>C	7.37:g.148950948G>C	ENSP00000338572:p.Lys310Asn		148581881	B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	7.700	0.692935	0.15039	.	.	ENSG00000170260	ENST00000335870	T	0.07327	3.2	5.31	4.44	0.53790	.	0.432627	0.22233	N	0.062796	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	B	0.23735	0.09	B	0.24155	0.051	T	0.42447	-0.9451	10	0.23302	T	0.38	-12.7408	8.1638	0.31215	0.1794:0.0:0.8206:0.0	.	310	Q9UDV6	ZN212_HUMAN	N	310	ENSP00000338572:K310N	ENSP00000338572:K310N	K	+	3	2	ZNF212	148581881	0.019000	0.18553	0.175000	0.22980	0.460000	0.32559	1.960000	0.40422	1.245000	0.43885	0.655000	0.94253	AAG		0.567	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		C	148950948	G	C	148950948	3	2	23	1	0	0	0	0	1	0	0	0	17768	991	35	3	948	3	ZNF212	7	148950948	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	34668389	148950948	10187715	29	1244											
ARMC1	55156	genome.wustl.edu	37	8	66525611	66525611	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr8:66525611C>A	ENST00000276569.3	-	4	577	c.333G>T	c.(331-333)caG>caT	p.Q111H	ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	111					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TATTGGAGGACTGAAGAATGT	0.368																																																0			8											137	131	133					8																	66525611		2203	4300	6503	66688165	SO:0001583	missense	55156			BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.333G>T	8.37:g.66525611C>A	ENSP00000276569:p.Gln111His		66688165	B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871475	0.51695	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.46819	0.86;0.86;0.86	6.02	-2.44	0.06502	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.70595	2.14	0.80722	D	1	P	0.45283	0.855	B	0.41510	0.359	T	0.42699	-0.9436	10	0.45353	T	0.12	.	11.9025	0.52692	0.0:0.5156:0.0:0.4844	.	111	Q9NVT9	ARMC1_HUMAN	H	111	ENSP00000276569:Q111H;ENSP00000429191:Q111H;ENSP00000429715:Q111H	ENSP00000276569:Q111H	Q	-	3	2	ARMC1	66688165	0.983000	0.35010	0.784000	0.31847	0.994000	0.84299	0.271000	0.18626	-0.896000	0.03915	-0.136000	0.14681	CAG		0.368	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		A	66525611	C	A	66525611	3	1	23	1	0	0	0	0	1	0	0	0	949	564	20	3	531	3	ARMC1	8	66525611	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09		66525611	79838411	30	1245											
LRP12	29967	genome.wustl.edu	37	8	105511658	105511658	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr8:105511658G>T	ENST00000276654.5	-	4	470	c.362C>A	c.(361-363)gCt>gAt	p.A121D	LRP12_ENST00000424843.2_Missense_Mutation_p.A102D	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	121	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGAACCACAAGCTCTGTAACT	0.378																																																0			8											161	155	157					8																	105511658		2203	4300	6503	105580834	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.362C>A	8.37:g.105511658G>T	ENSP00000276654:p.Ala121Asp		105580834	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791744	0.70452	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	T;T	0.18502	2.21;2.21	5.81	5.81	0.92471	CUB (5);	0.100219	0.64402	D	0.000002	T	0.33585	0.0868	M	0.62723	1.935	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.62298	0.839;0.9	T	0.01879	-1.1255	10	0.15499	T	0.54	-25.6189	14.2655	0.66116	0.0708:0.0:0.9292:0.0	.	102;121	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	D	102;121;121	ENSP00000399148:A102D;ENSP00000276654:A121D	ENSP00000276654:A121D	A	-	2	0	LRP12	105580834	0.970000	0.33590	1.000000	0.80357	0.998000	0.95712	1.713000	0.37951	2.752000	0.94435	0.557000	0.71058	GCT		0.378	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		T	105511658	G	T	105511658	3	4	23	1	0	0	0	0	1	0	0	0	8954	971	34	3	2233	3	LRP12	8	105511658	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	38986047	105511658	40852364	31	1246											
ARC	23237	genome.wustl.edu	37	8	143694873	143694873	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr8:143694873A>T	ENST00000356613.2	-	1	1960	c.760T>A	c.(760-762)Tgg>Agg	p.W254R	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TTGAACTCCCACCACTTCTTG	0.607																																																0			8											41	43	42					8																	143694873		2201	4300	6501	143691875	SO:0001583	missense	23237			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.760T>A	8.37:g.143694873A>T	ENSP00000349022:p.Trp254Arg		143691875	B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721534	0.68959	.	.	ENSG00000198576	ENST00000356613	.	.	.	4.92	4.92	0.64577	.	0.000000	0.53938	U	0.000055	T	0.63212	0.2492	N	0.24115	0.695	0.45354	D	0.998349	D	0.71674	0.998	D	0.81914	0.995	T	0.68330	-0.5437	9	0.87932	D	0	.	13.7151	0.62691	1.0:0.0:0.0:0.0	.	254	Q7LC44	ARC_HUMAN	R	254	.	ENSP00000349022:W254R	W	-	1	0	ARC	143691875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.871000	0.39539	1.840000	0.53500	0.379000	0.24179	TGG		0.607	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			T	143694873	A	T	143694873	3	4	23	1	0	0	0	0	1	0	0	0	841	159	6	5	434	5	ARC	8	143694873	Missense_Mutation	SNP	A	TCGA-04-1516-01A-01D-1526-09	38183215	143694873	2669149	32	1247											
CYLC2	1539	genome.wustl.edu	37	9	105767956	105767956	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr9:105767956A>T	ENST00000374798.3	+	5	1113	c.1043A>T	c.(1042-1044)aAg>aTg	p.K348M	CYLC2_ENST00000487798.1_Missense_Mutation_p.K348M	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	348					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aagaagggcaagtaggCCTTG	0.363																																																0			9											54	58	57					9																	105767956		2202	4298	6500	104807777	SO:0001583	missense	1539			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.1043A>T	9.37:g.105767956A>T	ENSP00000420256:p.Lys348Met		104807777	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693663	0.30052	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.17213	2.29;2.29	4.39	3.15	0.36227	.	.	.	.	.	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	D	0.56035	0.974	P	0.56612	0.802	T	0.08597	-1.0714	9	0.62326	D	0.03	.	6.7342	0.23401	0.7906:0.0:0.0:0.2094	.	348	Q14093	CYLC2_HUMAN	M	348	ENSP00000420256:K348M;ENSP00000417674:K348M	ENSP00000420256:K348M	K	+	2	0	CYLC2	104807777	1.000000	0.71417	0.296000	0.24974	0.064000	0.16182	2.694000	0.47035	1.963000	0.57068	0.477000	0.44152	AAG		0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		T	105767956	A	T	105767956	3	4	23	1	0	0	0	0	1	0	0	0	4142	72	3	5	1061	5	CYLC2	9	105767956	Missense_Mutation	SNP	A	TCGA-04-1516-01A-01D-1526-09		105767956	35445475	33	1248											
SLC25A25	114789	genome.wustl.edu	37	9	130860913	130860913	+	Missense_Mutation	SNP	C	C	G	rs377289085		TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr9:130860913C>G	ENST00000373064.5	+	1	331	c.68C>G	c.(67-69)tCg>tGg	p.S23W	SLC25A25_ENST00000373066.5_Intron|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000432073.2_Intron	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	23					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TACTTTGAGTCGAAGGGGCTC	0.592																																																0			9											111	100	104					9																	130860913		2203	4300	6503	129900734	SO:0001583	missense	114789			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.68C>G	9.37:g.130860913C>G	ENSP00000362155:p.Ser23Trp		129900734	Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617461	0.87359	.	.	ENSG00000148339	ENST00000373064	T	0.78595	-1.19	5.37	5.37	0.77165	.	.	.	.	.	T	0.71350	0.3329	N	0.19112	0.55	0.80722	D	1	P	0.46987	0.888	P	0.44990	0.466	T	0.76217	-0.3040	9	0.66056	D	0.02	.	18.458	0.90728	0.0:1.0:0.0:0.0	.	23	Q6KCM7	SCMC2_HUMAN	W	23	ENSP00000362155:S23W	ENSP00000362155:S23W	S	+	2	0	SLC25A25	129900734	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.587000	0.82613	2.665000	0.90641	0.467000	0.42956	TCG		0.592	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		G	130860913	C	G	130860913	3	3	23	1	0	0	0	0	1	0	0	0	14491	893	31	3	558	3	SLC25A25	9	130860913	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	25092957	130860913	10352518	34	1249											
PRRX2	51450	genome.wustl.edu	37	9	132482984	132482984	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr9:132482984A>C	ENST00000372469.4	+	3	784	c.557A>C	c.(556-558)cAg>cCg	p.Q186P	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	186					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GCCATCGAGCAGCCCGTGGCT	0.657																																																0			9											46	49	48					9																	132482984		2203	4300	6503	131522805	SO:0001583	missense	51450			AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"Homeoboxes / PRD class"	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.557A>C	9.37:g.132482984A>C	ENSP00000361547:p.Gln186Pro		131522805	Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	CCDS6926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.57|13.57	2.276371|2.276371	0.40294|0.40294	.|.	.|.	ENSG00000167157|ENSG00000167157	ENST00000372469|ENST00000557730	D|.	0.89617|.	-2.54|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.060915|.	0.64402|.	D|.	0.000002|.	T|T	0.63954|0.63954	0.2555|0.2555	L|L	0.52573|0.52573	1.65|1.65	0.53688|0.53688	D|D	0.999973|0.999973	D|.	0.67145|.	0.996|.	D|.	0.65010|.	0.931|.	T|T	0.61821|0.61821	-0.6984|-0.6984	10|5	0.29301|.	T|.	0.29|.	.|.	14.934|14.934	0.70938|0.70938	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	186|.	Q99811|.	PRRX2_HUMAN|.	P|R	186|101	ENSP00000361547:Q186P|.	ENSP00000361547:Q186P|.	Q|S	+|+	2|1	0|0	PRRX2|PRRX2	131522805|131522805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.895000|6.895000	0.75660|0.75660	2.187000|2.187000	0.69744|0.69744	0.459000|0.459000	0.35465|0.35465	CAG|AGC		0.657	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		C	132482984	A	C	132482984	3	2	23	1	0	0	0	0	1	0	0	0	12616	188	7	5	567	5	PRRX2	9	132482984	Missense_Mutation	SNP	A	TCGA-04-1516-01A-01D-1526-09	1622071	132482984	8730447	35	1250											
ANKRD1	27063	genome.wustl.edu	37	10	92679963	92679963	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr10:92679963T>A	ENST00000371697.3	-	2	418	c.170A>T	c.(169-171)gAg>gTg	p.E57V	RNU6-740P_ENST00000364734.1_RNA	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	57					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CCACTGTTGCTCCCCCAGGGT	0.512																																																0			10											207	194	198					10																	92679963		2203	4300	6503	92669943	SO:0001583	missense	27063			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"Ankyrin repeat domain containing"	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.170A>T	10.37:g.92679963T>A	ENSP00000360762:p.Glu57Val		92669943	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213419	0.39102	.	.	ENSG00000148677	ENST00000371697	T	0.68765	-0.35	5.76	5.76	0.90799	.	0.425745	0.25442	N	0.030659	T	0.55386	0.1917	L	0.29908	0.895	0.35988	D	0.83648	B	0.31125	0.309	B	0.24701	0.055	T	0.62642	-0.6811	10	0.41790	T	0.15	.	16.3668	0.83335	0.0:0.0:0.0:1.0	.	57	Q15327	ANKR1_HUMAN	V	57	ENSP00000360762:E57V	ENSP00000360762:E57V	E	-	2	0	ANKRD1	92669943	0.162000	0.22906	0.933000	0.37362	0.247000	0.25773	1.580000	0.36547	2.322000	0.78497	0.528000	0.53228	GAG		0.512	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		A	92679963	T	A	92679963	3	1	23	1	0	0	0	0	1	0	0	0	637	1551	54	5	821	5	ANKRD1	10	92679963	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09		92679963	42854784	36	1251											
PPRC1	23082	genome.wustl.edu	37	10	103899798	103899798	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr10:103899798G>T	ENST00000278070.2	+	5	1572	c.1533G>T	c.(1531-1533)gaG>gaT	p.E511D	PPRC1_ENST00000413464.2_Missense_Mutation_p.E511D|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTCAAAAAGAGTCTGGGCCTC	0.557																																																0			10											63	72	69					10																	103899798		2203	4300	6503	103889788	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1533G>T	10.37:g.103899798G>T	ENSP00000278070:p.Glu511Asp		103889788	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	7.098	0.573509	0.13623	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.56941	0.43;0.43	6.03	2.0	0.26442	.	0.216428	0.32952	N	0.005457	T	0.36386	0.0965	L	0.32530	0.975	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.006	B;B;B	0.09377	0.003;0.004;0.003	T	0.30416	-0.9979	10	0.72032	D	0.01	.	5.8131	0.18477	0.1439:0.0:0.5846:0.2716	.	511;391;511	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	D	511	ENSP00000278070:E511D;ENSP00000399743:E511D	ENSP00000278070:E511D	E	+	3	2	PPRC1	103889788	0.037000	0.19845	0.041000	0.18516	0.064000	0.16182	0.413000	0.21148	0.446000	0.26666	-0.266000	0.10368	GAG		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		T	103899798	G	T	103899798	3	4	23	1	0	0	0	0	1	0	0	0	12413	1020	36	3	1551	3	PPRC1	10	103899798	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	11219835	103899798	31634949	37	1252											
OR2D3	120775	genome.wustl.edu	37	11	6943157	6943157	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr11:6943157A>G	ENST00000317834.3	+	1	953	c.925A>G	c.(925-927)Agg>Ggg	p.R309G		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTATAGCTTGAGGAACAAAGA	0.428																																																0			11											72	75	74					11																	6943157		2201	4296	6497	6899733	SO:0001583	missense	120775			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.925A>G	11.37:g.6943157A>G	ENSP00000320560:p.Arg309Gly		6899733	B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965901	0.34659	.	.	ENSG00000178358	ENST00000317834	T	0.40476	1.03	5.17	2.75	0.32379	.	0.275476	0.25948	N	0.027280	T	0.78767	0.4335	H	0.99859	4.855	0.09310	N	0.999999	P	0.50156	0.932	D	0.70487	0.969	T	0.73452	-0.3978	10	0.87932	D	0	-41.3536	10.7931	0.46445	0.6984:0.3016:0.0:0.0	.	309	Q8NGH3	OR2D3_HUMAN	G	309	ENSP00000320560:R309G	ENSP00000320560:R309G	R	+	1	2	OR2D3	6899733	0.012000	0.17670	0.920000	0.36463	0.344000	0.29017	0.474000	0.22148	0.472000	0.27344	0.533000	0.62120	AGG		0.428	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		G	6943157	A	G	6943157	3	3	23	1	0	0	0	0	1	0	0	0	10995	295	11	4	927	4	OR2D3	11	6943157	Missense_Mutation	SNP	A	TCGA-04-1516-01A-01D-1526-09		6943157	128063359	38	1253											
COPB1	1315	genome.wustl.edu	37	11	14515232	14515232	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr11:14515232G>C	ENST00000249923.3	-	4	747	c.447C>G	c.(445-447)agC>agG	p.S149R	COPB1_ENST00000439561.2_Missense_Mutation_p.S149R	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	149					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTCTAACATAGCTGTGTCGAT	0.378																																																0			11											143	134	137					11																	14515232		2200	4294	6494	14471808	SO:0001583	missense	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.447C>G	11.37:g.14515232G>C	ENSP00000249923:p.Ser149Arg		14471808	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192487	0.78902	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.29397	1.57;1.57;1.57	5.3	5.3	0.74995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	M	0.91920	3.255	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.73196	-0.4059	10	0.72032	D	0.01	.	19.3218	0.94245	0.0:0.0:1.0:0.0	.	149	P53618	COPB_HUMAN	R	149	ENSP00000249923:S149R;ENSP00000397873:S149R;ENSP00000436383:S149R	ENSP00000249923:S149R	S	-	3	2	COPB1	14471808	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.217000	0.65252	2.647000	0.89833	0.455000	0.32223	AGC		0.378	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		C	14515232	G	C	14515232	3	2	23	1	0	0	0	0	1	0	0	0	3728	962	34	3	2490	3	COPB1	11	14515232	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	7572075	14515232	120491284	39	1254											
OR5D18	219438	genome.wustl.edu	37	11	55587539	55587539	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr11:55587539T>C	ENST00000333976.4	+	1	454	c.434T>C	c.(433-435)cTg>cCg	p.L145P		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGCGTGCTGCTGGTTGTGGGA	0.463																																																0			11											187	177	180					11																	55587539		2200	4296	6496	55344115	SO:0001583	missense	219438			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.434T>C	11.37:g.55587539T>C	ENSP00000335025:p.Leu145Pro		55344115	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	11.34	1.608878	0.28623	.	.	ENSG00000186119	ENST00000333976	T	0.45276	0.9	4.66	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30989	N	0.008475	T	0.73024	0.3534	H	0.97265	3.97	0.21627	N	0.999614	D	0.89917	1.0	D	0.81914	0.995	T	0.70182	-0.4942	10	0.87932	D	0	-9.4669	8.1827	0.31319	0.0:0.092:0.0:0.908	.	145	Q8NGL1	OR5DI_HUMAN	P	145	ENSP00000335025:L145P	ENSP00000335025:L145P	L	+	2	0	OR5D18	55344115	0.928000	0.31464	0.008000	0.14137	0.022000	0.10575	5.738000	0.68613	1.912000	0.55364	0.462000	0.41574	CTG		0.463	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		C	55587539	T	C	55587539	3	2	23	1	0	0	0	0	1	0	0	0	11157	1580	55	4	436	4	OR5D18	11	55587539	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09	41072307	55587539	79418977	40	1255											
DNAJB13	374407	genome.wustl.edu	37	11	73679409	73679409	+	Missense_Mutation	SNP	C	C	T	rs555430903	byFrequency	TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr11:73679409C>T	ENST00000339764.1	+	6	1377	c.626C>T	c.(625-627)gCa>gTa	p.A209V	DNAJB13_ENST00000537753.1_Missense_Mutation_p.A34V|DNAJB13_ENST00000543947.1_Missense_Mutation_p.A34V|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	209					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ATCATCCCAGCAGACATCATT	0.542																																																0			11											165	120	135					11																	73679409		2200	4293	6493	73357057	SO:0001583	missense	374407			AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"Heat shock proteins / DNAJ (HSP40)"	30718	protein-coding gene	gene with protein product	"radial spoke 16 homolog A (Chlamydomonas)"	610263	"DnaJ (Hsp40) related, subfamily B, member 13"				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.626C>T	11.37:g.73679409C>T	ENSP00000344431:p.Ala209Val		73357057	B3LEP4|Q8IZW5	Missense_Mutation	SNP	ENST00000339764.1	37	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	c	33	5.284316	0.95517	.	.	ENSG00000187726	ENST00000339764;ENST00000537753;ENST00000543947	T;T;T	0.47869	0.91;0.83;0.83	5.23	5.23	0.72850	HSP40/DnaJ peptide-binding (1);	0.047454	0.85682	D	0.000000	T	0.77191	0.4094	H	0.97783	4.075	0.53688	D	0.999973	D	0.52996	0.957	P	0.55545	0.778	D	0.86575	0.1850	10	0.87932	D	0	.	17.4282	0.87532	0.0:1.0:0.0:0.0	.	209	P59910	DJB13_HUMAN	V	209;34;34	ENSP00000344431:A209V;ENSP00000439711:A34V;ENSP00000438576:A34V	ENSP00000344431:A209V	A	+	2	0	DNAJB13	73357057	1.000000	0.71417	0.969000	0.41365	0.973000	0.67179	5.003000	0.63959	2.452000	0.82932	0.437000	0.28790	GCA		0.542	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		T	73679409	C	T	73679409	3	4	23	1	0	0	0	0	1	0	0	0	4618	710	25	2	648	2	DNAJB13	11	73679409	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	18091870	73679409	61327107	41	1256											
SLCO2B1	11309	genome.wustl.edu	37	11	74907586	74907586	+	Silent	SNP	A	A	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr11:74907586A>T	ENST00000289575.5	+	10	1856	c.1461A>T	c.(1459-1461)ccA>ccT	p.P487P	SLCO2B1_ENST00000532236.1_Silent_p.P371P|SLCO2B1_ENST00000454962.2_Silent_p.P260P|SLCO2B1_ENST00000428359.2_Silent_p.P465P|SLCO2B1_ENST00000531756.1_Silent_p.P232P|SLCO2B1_ENST00000525650.1_Silent_p.P343P|SLCO2B1_ENST00000341411.4_Silent_p.P260P	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	487	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	AGCTGTCTCCAAGCTGCATGG	0.632																																																0			11											59	52	54					11																	74907586		2200	4293	6493	74585234	SO:0001819	synonymous_variant	11309			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1461A>T	11.37:g.74907586A>T			74585234	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	CCDS8235.1																																																																																				0.632	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		T	74907586	A	T	74907586	2	4	23	1	0	0	0	0	0	0	0	1	14730	117	5	5		5	SLCO2B1	11	74907586	Silent	SNP	A	TCGA-04-1516-01A-01D-1526-09	1228177	74907586	60098930	42	1257											
DCP1B	196513	genome.wustl.edu	37	12	2061828	2061828	+	Silent	SNP	C	C	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr12:2061828C>T	ENST00000280665.6	-	7	1357	c.1278G>A	c.(1276-1278)caG>caA	p.Q426Q	DCP1B_ENST00000397173.4_Silent_p.Q324Q|DCP1B_ENST00000540622.1_Silent_p.Q300Q|DCP1B_ENST00000541700.1_5'Flank	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	426				Q -> R (in Ref. 2; BAB71118). {ECO:0000305}.	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GGAGTGTGGACTGTTCTCTTC	0.527																																																0			12											177	166	169					12																	2061828		2203	4300	6503	1932089	SO:0001819	synonymous_variant	196513			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1278G>A	12.37:g.2061828C>T			1932089	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	CCDS31727.1																																																																																				0.527	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		T	2061828	C	T	2061828	2	4	23	1	0	0	0	0	0	0	0	1	4299	564	20	2		2	DCP1B	12	2061828	Silent	SNP	C	TCGA-04-1516-01A-01D-1526-09		2061828	131790067	43	1258											
LRP6	4040	genome.wustl.edu	37	12	12397428	12397428	+	Nonsense_Mutation	SNP	C	C	A	rs201813872		TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr12:12397428C>A	ENST00000261349.4	-	2	293	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.E73*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	73	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTAATGGCTTCTTCGCTGACA	0.453																																																0			12											116	99	105					12																	12397428		2203	4300	6503	12288695	SO:0001587	stop_gained	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.217G>T	12.37:g.12397428C>A	ENSP00000261349:p.Glu73*		12288695	Q17RZ2	Nonsense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	38	6.790901	0.97841	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	.	.	.	5.04	5.04	0.67666	.	0.000000	0.53938	U	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000261349:E73X	E	-	1	0	LRP6	12288695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.627000	0.88993	0.460000	0.39030	GAA		0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			A	12397428	C	A	12397428	4	1	23	1	0	0	0	0	0	1	0	0	8962	922	32	3	4712	3	LRP6	12	12397428	Nonsense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	10335600	12397428	121454467	44	1259											
PPFIBP1	8496	genome.wustl.edu	37	12	27807738	27807738	+	Silent	SNP	A	A	G			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr12:27807738A>G	ENST00000318304.8	+	8	970	c.687A>G	c.(685-687)aaA>aaG	p.K229K	PPFIBP1_ENST00000228425.6_Silent_p.K229K|PPFIBP1_ENST00000542629.1_Silent_p.K229K|PPFIBP1_ENST00000537927.1_Silent_p.K76K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	229					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAAAGCTTAAATCAACCAAAG	0.323																																																0			12											69	67	68					12																	27807738		2203	4299	6502	27699005	SO:0001819	synonymous_variant	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.687A>G	12.37:g.27807738A>G			27699005	O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	CCDS55812.1																																																																																				0.323	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		G	27807738	A	G	27807738	2	3	23	1	0	0	0	0	0	0	0	1	12313	98	4	4		4	PPFIBP1	12	27807738	Silent	SNP	A	TCGA-04-1516-01A-01D-1526-09	15410310	27807738	106044157	45	1260											
KCNC2	3747	genome.wustl.edu	37	12	75436917	75436917	+	Missense_Mutation	SNP	G	G	A	rs200051664		TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr12:75436917G>A	ENST00000549446.1	-	5	2565	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000540018.1_Missense_Mutation_p.R574C|RP11-81K13.1_ENST00000550049.1_RNA|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000548513.1_Intron|KCNC2_ENST00000298972.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	629					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GATCGAGAGCGCCTCAGAGGA	0.458																																																0			12											154	137	143					12																	75436917		2203	4300	6503	73723184	SO:0001583	missense	3747			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1885C>T	12.37:g.75436917G>A	ENSP00000449253:p.Arg629Cys		73723184	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050581	0.75960	.	.	ENSG00000166006	ENST00000549446;ENST00000540018	D;D	0.98192	-4.61;-4.78	6.17	5.28	0.74379	.	0.283728	0.23491	N	0.047601	D	0.97256	0.9103	L	0.38175	1.15	0.80722	D	1	B;D	0.89917	0.054;1.0	B;P	0.53689	0.017;0.732	D	0.96557	0.9412	10	0.48119	T	0.1	.	15.01	0.71542	0.0673:0.0:0.9327:0.0	.	574;629	F5H030;Q96PR1	.;KCNC2_HUMAN	C	629;574	ENSP00000449253:R629C;ENSP00000438423:R574C	ENSP00000438423:R574C	R	-	1	0	KCNC2	73723184	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.022000	0.88759	2.941000	0.99782	0.655000	0.94253	CGC		0.458	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		A	75436917	G	A	75436917	3	1	23	1	0	0	0	0	1	0	0	0	8015	1087	38	1	101	1	KCNC2	12	75436917	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	47629179	75436917	58414978	46	1261											
DYNC1H1	1778	genome.wustl.edu	37	14	102483485	102483485	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr14:102483485C>G	ENST00000360184.4	+	39	8073	c.7909C>G	c.(7909-7911)Cac>Gac	p.H2637D		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2637	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GACTTTTGATCACTACTGCGA	0.488																																																0			14											147	138	141					14																	102483485		2203	4300	6503	101553238	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7909C>G	14.37:g.102483485C>G	ENSP00000348965:p.His2637Asp		101553238	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606517	0.87157	.	.	ENSG00000197102	ENST00000360184	T	0.20881	2.04	5.06	5.06	0.68205	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.15578	-1.0432	10	0.18710	T	0.47	.	18.7865	0.91957	0.0:1.0:0.0:0.0	.	2637	Q14204	DYHC1_HUMAN	D	2637	ENSP00000348965:H2637D	ENSP00000348965:H2637D	H	+	1	0	DYNC1H1	101553238	1.000000	0.71417	0.994000	0.49952	0.801000	0.45260	7.634000	0.83273	2.520000	0.84964	0.561000	0.74099	CAC		0.488	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102483485	C	G	102483485	3	3	23	1	0	0	0	0	1	0	0	0	4841	826	29	3	8063	3	DYNC1H1	14	102483485	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09		102483485	4866055	47	1262											
ADAMTS17	170691	genome.wustl.edu	37	15	100537756	100537756	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr15:100537756C>A	ENST00000268070.4	-	19	2735	c.2630G>T	c.(2629-2631)tGt>tTt	p.C877F		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	877	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCCTTTCTCACAGGTCGCCGA	0.692																																																0			15											31	32	32					15																	100537756		2203	4300	6503	98355279	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2630G>T	15.37:g.100537756C>A	ENSP00000268070:p.Cys877Phe		98355279	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542445	0.85917	.	.	ENSG00000140470	ENST00000268070	D	0.96491	-4.03	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.99169	4.455	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.98959	1.0797	10	0.66056	D	0.02	.	18.639	0.91389	0.0:1.0:0.0:0.0	.	877	Q8TE56	ATS17_HUMAN	F	877	ENSP00000268070:C877F	ENSP00000268070:C877F	C	-	2	0	ADAMTS17	98355279	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.975000	0.76128	2.385000	0.81259	0.563000	0.77884	TGT		0.692	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100537756	C	A	100537756	3	1	23	1	0	0	0	0	1	0	0	0	262	478	17	3	673	3	ADAMTS17	15	100537756	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09		100537756	1993636	48	1263											
PLK1	5347	genome.wustl.edu	37	16	23700856	23700856	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr16:23700856C>G	ENST00000300093.4	+	9	1578	c.1467C>G	c.(1465-1467)caC>caG	p.H489Q	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	489					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TGAGCGAGCACTTGCTGAAGG	0.562																																					Colon(12;240 564 27038 33155)											0			16											57	58	58					16																	23700856		2197	4300	6497	23608357	SO:0001583	missense	5347				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1467C>G	16.37:g.23700856C>G	ENSP00000300093:p.His489Gln		23608357	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150411	0.37923	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.15256	2.44	5.45	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.86420	2.815	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	T	0.52902	-0.8513	10	0.87932	D	0	-32.9103	13.4089	0.60931	0.0:0.8497:0.0:0.1503	.	489	P53350	PLK1_HUMAN	Q	489;392	ENSP00000300093:H489Q	ENSP00000300093:H489Q	H	+	3	2	PLK1	23608357	1.000000	0.71417	0.513000	0.27749	0.167000	0.22549	2.896000	0.48656	0.691000	0.31592	-1.151000	0.01829	CAC		0.562	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		G	23700856	C	G	23700856	3	3	23	1	0	0	0	0	1	0	0	0	12094	564	20	3	1501	3	PLK1	16	23700856	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09		23700856	66653897	49	1264											
ZKSCAN2	342357	genome.wustl.edu	37	16	25264268	25264268	+	Splice_Site	SNP	T	T	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr16:25264268T>C	ENST00000328086.7	-	3	1480	c.677A>G	c.(676-678)cAg>cGg	p.Q226R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	226					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ACAATGTACCTGGGACCCAGC	0.507																																																0			16											146	144	144					16																	25264268		2197	4300	6497	25171769	SO:0001630	splice_region_variant	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.678+1A>G	16.37:g.25264268T>C			25171769	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484683	0.44147	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.00995	5.46	5.99	5.99	0.97316	Krueppel-associated box (1);	0.142496	0.32769	N	0.005675	T	0.05640	0.0148	M	0.80028	2.48	0.37922	D	0.931716	D;D	0.71674	0.998;0.993	D;D	0.72982	0.953;0.979	T	0.04053	-1.0981	10	0.87932	D	0	-20.1764	12.8861	0.58045	0.0:0.0:0.0:1.0	.	226;226	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	R	226	ENSP00000331626:Q226R	ENSP00000331626:Q226R	Q	-	2	0	ZKSCAN2	25171769	1.000000	0.71417	0.998000	0.56505	0.306000	0.27790	3.562000	0.53777	2.291000	0.77112	0.533000	0.62120	CAG		0.507	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	Missense_Mutation	C	25264268	T	C	25264268	5	2	23	1	0	0	0	0	0	0	1	0	17687	1594	55	4	2246	4	ZKSCAN2	16	25264268	Splice_Site	SNP	T	TCGA-04-1516-01A-01D-1526-09	1563412	25264268	65090485	50	1265											
TP53	7157	genome.wustl.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*|TP53_ENST00000574684.1_5'Flank	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	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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)	TGGTGAGGCTCCCCTTTCTTG	0.567		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"	87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)	17											109	95	100					17																	7577058		2203	4300	6503	7517783	SO:0001587	stop_gained	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.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*		7517783	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577058	C	A	7577058	4	1	23	1	0	0	0	0	0	1	0	0	16381	864	30	3	406	3	TP53	17	7577058	Nonsense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09		7577058	73618152	51	1266											
MYH4	4622	genome.wustl.edu	37	17	10367839	10367839	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr17:10367839C>A	ENST00000255381.2	-	7	708	c.598G>T	c.(598-600)Gca>Tca	p.A200S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	200	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCAGTAACTGCAATTGTTGCA	0.408																																																0			17											95	91	93					17																	10367839		2203	4300	6503	10308564	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.598G>T	17.37:g.10367839C>A	ENSP00000255381:p.Ala200Ser		10308564		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627886	0.87560	.	.	ENSG00000141048	ENST00000255381	D	0.86769	-2.17	5.12	5.12	0.69794	Myosin head, motor domain (2);	0.000000	0.37136	U	0.002229	D	0.89812	0.6823	L	0.48174	1.505	0.53005	D	0.999968	B	0.15719	0.014	B	0.43413	0.419	D	0.87634	0.2518	10	0.66056	D	0.02	.	18.9057	0.92460	0.0:1.0:0.0:0.0	.	200	Q9Y623	MYH4_HUMAN	S	200	ENSP00000255381:A200S	ENSP00000255381:A200S	A	-	1	0	MYH4	10308564	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.781000	0.62389	2.527000	0.85204	0.650000	0.86243	GCA		0.408	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10367839	C	A	10367839	3	1	23	1	0	0	0	0	1	0	0	0	10037	710	25	3	5357	3	MYH4	17	10367839	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	2790781	10367839	70827371	52	1267											
SLC47A1	55244	genome.wustl.edu	37	17	19454777	19454777	+	Missense_Mutation	SNP	A	A	T	rs139970097		TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr17:19454777A>T	ENST00000270570.4	+	6	625	c.539A>T	c.(538-540)aAc>aTc	p.N180I	SLC47A1_ENST00000457293.1_Missense_Mutation_p.N180I|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.N180I|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Missense_Mutation_p.T32S|SLC47A1_ENST00000542886.1_Missense_Mutation_p.N180I|SLC47A1_ENST00000436810.2_Missense_Mutation_p.N157I	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	180					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TATTTGCTCAACCAGGTAATA	0.443																																																0			17											156	145	149					17																	19454777		2203	4300	6503	19395369	SO:0001583	missense	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.539A>T	17.37:g.19454777A>T	ENSP00000270570:p.Asn180Ile		19395369	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613506	0.66672	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.15	4.05	0.47172	.	0.041420	0.85682	D	0.000000	T	0.55970	0.1954	M	0.89287	3.02	0.44207	D	0.997034	D;P;D	0.67145	0.996;0.954;0.961	D;D;P	0.72338	0.977;0.934;0.706	T	0.57808	-0.7747	10	0.72032	D	0.01	-11.8508	6.547	0.22412	0.7584:0.1585:0.0831:0.0	.	157;180;180	E7EX57;Q96FL8;Q96FL8-3	.;S47A1_HUMAN;.	I	157;180;180;180;180	ENSP00000407155:N157I;ENSP00000270570:N180I;ENSP00000415586:N180I;ENSP00000378951:N180I	ENSP00000270570:N180I	N	+	2	0	SLC47A1	19395369	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.095000	0.30964	0.777000	0.33496	0.459000	0.35465	AAC		0.443	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		T	19454777	A	T	19454777	3	4	23	1	0	0	0	0	1	0	0	0	14650	43	2	5	561	5	SLC47A1	17	19454777	Missense_Mutation	SNP	A	TCGA-04-1516-01A-01D-1526-09	9086938	19454777	61740433	53	1268											
UNC119	9094	genome.wustl.edu	37	17	26875116	26875116	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr17:26875116C>A	ENST00000335765.4	-	3	448	c.338G>T	c.(337-339)cGg>cTg	p.R113L	UNC119_ENST00000470125.1_Missense_Mutation_p.R18L|UNC119_ENST00000484980.1_Missense_Mutation_p.R18L|UNC119_ENST00000301032.4_Missense_Mutation_p.R113L	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	113					cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GATGGGCAACCGTTCTGCAAT	0.612											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			17											29	28	28					17																	26875116		2203	4300	6503	23899243	SO:0001583	missense	9094			U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog A (Chlamydomonas)"	604011	"unc119 (C.elegans) homolog"			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.338G>T	17.37:g.26875116C>A	ENSP00000337040:p.Arg113Leu	790	23899243	A8K8G4|F1T095|O95126	Missense_Mutation	SNP	ENST00000335765.4	37	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124508	0.56613	.	.	ENSG00000109103	ENST00000335765;ENST00000301032;ENST00000444148	T;T;T	0.77358	-1.07;-1.09;-1.09	5.81	5.81	0.92471	Immunoglobulin E-set (1);	0.388228	0.30076	N	0.010461	T	0.76371	0.3978	L	0.38531	1.155	0.58432	D	0.999999	P;B	0.46220	0.874;0.005	P;B	0.48304	0.573;0.017	T	0.72500	-0.4274	10	0.26408	T	0.33	-18.9581	18.2592	0.90028	0.0:1.0:0.0:0.0	.	113;113	F1T095;Q13432	.;U119A_HUMAN	L	113;113;106	ENSP00000337040:R113L;ENSP00000301032:R113L;ENSP00000414639:R106L	ENSP00000301032:R113L	R	-	2	0	UNC119	23899243	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.734000	0.55037	2.757000	0.94681	0.462000	0.41574	CGG		0.612	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			A	26875116	C	A	26875116	3	1	23	1	0	0	0	0	1	0	0	0	16982	652	23	3	449	3	UNC119	17	26875116	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	7420339	26875116	54320094	54	1269											
JUP	3728	genome.wustl.edu	37	17	39915076	39915076	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr17:39915076T>G	ENST00000393931.3	-	9	1662	c.1544A>C	c.(1543-1545)cAt>cCt	p.H515P	JUP_ENST00000393930.1_Missense_Mutation_p.H515P|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.H515P	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	515					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CAGCGGGGCATGGTTGGCTGG	0.622																																					Colon(16;42 520 6044 17852 28530)											0			17											28	28	28					17																	39915076		2202	4300	6502	37168602	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1544A>C	17.37:g.39915076T>G	ENSP00000377508:p.His515Pro		37168602	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	t	20.5	3.996402	0.74818	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.64803	-0.12;-0.12;-0.12	5.12	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);	0.050166	0.85682	D	0.000000	T	0.70979	0.3286	M	0.62088	1.915	0.80722	D	1	P	0.35363	0.497	P	0.51355	0.667	T	0.74093	-0.3776	10	0.66056	D	0.02	-20.2124	11.5685	0.50820	0.0:0.0:0.1485:0.8515	.	515	P14923	PLAK_HUMAN	P	515	ENSP00000377507:H515P;ENSP00000311113:H515P;ENSP00000377508:H515P	ENSP00000311113:H515P	H	-	2	0	JUP	37168602	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.695000	0.84257	2.151000	0.67156	0.454000	0.30748	CAT		0.622	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			G	39915076	T	G	39915076	3	3	23	1	0	0	0	0	1	0	0	0	7972	1464	51	5	717	5	JUP	17	39915076	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09	13039960	39915076	41280134	55	1270											
C1QL1	10882	genome.wustl.edu	37	17	43037583	43037583	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr17:43037583G>C	ENST00000253407.3	-	2	772	c.750C>G	c.(748-750)ttC>ttG	p.F250L		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	250	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				TGAAGCCAGAGAACGTGCTGT	0.632																																																0			17											305	246	266					17																	43037583		2203	4300	6503	40393109	SO:0001583	missense	10882			AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.750C>G	17.37:g.43037583G>C	ENSP00000253407:p.Phe250Leu		40393109		Missense_Mutation	SNP	ENST00000253407.3	37	CCDS11492.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413464	0.83449	.	.	ENSG00000131094	ENST00000253407	D	0.92911	-3.13	4.4	2.42	0.29668	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.96367	0.8815	H	0.94925	3.6	0.51233	D	0.999918	D	0.76494	0.999	D	0.85130	0.997	D	0.94932	0.8083	10	0.87932	D	0	.	7.7959	0.29148	0.2783:0.0:0.7217:0.0	.	250	O75973	C1QRF_HUMAN	L	250	ENSP00000253407:F250L	ENSP00000253407:F250L	F	-	3	2	C1QL1	40393109	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.301000	0.43628	0.498000	0.27948	0.555000	0.69702	TTC		0.632	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371119.3	NM_006688		C	43037583	G	C	43037583	3	2	23	1	0	0	0	0	1	0	0	0	1958	933	33	3	30	3	C1QL1	17	43037583	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	3122507	43037583	38157627	56	1271											
ABCA6	23460	genome.wustl.edu	37	17	67133497	67133497	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr17:67133497G>T	ENST00000284425.2	-	3	415	c.241C>A	c.(241-243)Cca>Aca	p.P81T	ABCA6_ENST00000590645.1_Missense_Mutation_p.P81T	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	81					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTAGATATTGGTGTATACACA	0.373																																																0			17											103	109	107					17																	67133497		2203	4300	6503	64645092	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.241C>A	17.37:g.67133497G>T	ENSP00000284425:p.Pro81Thr		64645092	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	g	14.96	2.689885	0.48097	.	.	ENSG00000154262	ENST00000284425	D	0.89343	-2.5	4.81	4.81	0.61882	.	0.000000	0.41294	D	0.000914	D	0.94466	0.8219	M	0.85197	2.74	0.38275	D	0.942271	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.95632	0.8690	10	0.87932	D	0	.	13.5788	0.61890	0.0:0.0:1.0:0.0	.	81;81	Q8N139-3;Q8N139	.;ABCA6_HUMAN	T	81	ENSP00000284425:P81T	ENSP00000284425:P81T	P	-	1	0	ABCA6	64645092	1.000000	0.71417	0.566000	0.28421	0.386000	0.30323	4.570000	0.60872	2.671000	0.90904	0.651000	0.88453	CCA		0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		T	67133497	G	T	67133497	3	4	23	1	0	0	0	0	1	0	0	0	36	1261	44	3	4760	3	ABCA6	17	67133497	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09	24095914	67133497	14061713	57	1272											
NETO1	81832	genome.wustl.edu	37	18	70417456	70417456	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr18:70417456T>A	ENST00000327305.6	-	9	2039	c.1382A>T	c.(1381-1383)cAg>cTg	p.Q461L	NETO1_ENST00000583169.1_Missense_Mutation_p.Q461L|NETO1_ENST00000299430.2_Missense_Mutation_p.Q460L|RNA5SP460_ENST00000516789.1_RNA	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	461					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.Q461L(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTTTCCTGGCTGTGTGGGCAT	0.483																																																1	Substitution - Missense(1)	lung(1)	18											208	184	192					18																	70417456		2203	4300	6503	68568436	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1382A>T	18.37:g.70417456T>A	ENSP00000313088:p.Gln461Leu		68568436	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.167794	0.38315	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.22743	1.94;1.94	5.76	1.88	0.25563	.	0.000000	0.56097	D	0.000024	T	0.16300	0.0392	L	0.44542	1.39	0.80722	D	1	B;B	0.15473	0.013;0.008	B;B	0.19391	0.025;0.011	T	0.06734	-1.0810	10	0.30078	T	0.28	-34.0953	8.4958	0.33127	0.0:0.0644:0.2428:0.6928	.	460;461	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	L	461;460	ENSP00000313088:Q461L;ENSP00000299430:Q460L	ENSP00000299430:Q460L	Q	-	2	0	NETO1	68568436	1.000000	0.71417	0.842000	0.33263	0.892000	0.51952	2.564000	0.45931	0.412000	0.25729	0.377000	0.23210	CAG		0.483	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		A	70417456	T	A	70417456	3	1	23	1	0	0	0	0	1	0	0	0	10339	1580	55	5	227	5	NETO1	18	70417456	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09		70417456	7659792	58	1273											
PODNL1	79883	genome.wustl.edu	37	19	14045201	14045201	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr19:14045201G>T	ENST00000339560.5	-	6	811	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	PODNL1_ENST00000538517.2_Intron|PODNL1_ENST00000254320.3_Missense_Mutation_p.Q98K|PODNL1_ENST00000538371.2_Missense_Mutation_p.Q178K	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	180	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TTGCTCAGCTGGTTGTTGTGG	0.692																																																0			19											22	21	22					19																	14045201		2181	4276	6457	13906201	SO:0001583	missense	79883			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.538C>A	19.37:g.14045201G>T	ENSP00000345175:p.Gln180Lys		13906201	B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635217	0.29068	.	.	ENSG00000132000	ENST00000538371;ENST00000339560;ENST00000254320	T;T;T	0.23754	1.89;5.55;1.89	5.05	3.99	0.46301	.	0.378830	0.19415	N	0.114851	T	0.12008	0.0292	N	0.10809	0.05	0.22521	N	0.999029	B;B;B	0.29988	0.264;0.215;0.004	B;B;B	0.29353	0.052;0.101;0.003	T	0.22452	-1.0216	10	0.06236	T	0.91	.	11.9432	0.52913	0.0:0.0:0.8189:0.1811	.	178;98;180	F5H7F9;B7Z3M0;Q6PEZ8	.;.;PONL1_HUMAN	K	178;180;98	ENSP00000442553:Q178K;ENSP00000345175:Q180K;ENSP00000254320:Q98K	ENSP00000254320:Q98K	Q	-	1	0	PODNL1	13906201	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.269000	0.33074	1.185000	0.42971	0.585000	0.79938	CAG		0.692	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		T	14045201	G	T	14045201	3	4	23	1	0	0	0	0	1	0	0	0	12179	1357	47	3	1012	3	PODNL1	19	14045201	Missense_Mutation	SNP	G	TCGA-04-1516-01A-01D-1526-09		14045201	45083782	59	1274											
ZNFX1	57169	genome.wustl.edu	37	20	47887087	47887087	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr20:47887087C>T	ENST00000396105.1	-	3	1508	c.1262G>A	c.(1261-1263)tGt>tAt	p.C421Y	ZNFX1_ENST00000371754.4_Missense_Mutation_p.C421Y|ZNFX1_ENST00000371752.1_Missense_Mutation_p.C421Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	421							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGATGATGAACACATGGGGGT	0.438																																																0			20											177	172	174					20																	47887087		2203	4300	6503	47320494	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1262G>A	20.37:g.47887087C>T	ENSP00000379412:p.Cys421Tyr		47320494	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095160	0.36952	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87103	-1.95;-2.21;-2.21;-0.9;-1.62	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.87665	0.6234	M	0.61703	1.905	0.80722	D	1	D	0.54772	0.968	P	0.48627	0.584	D	0.84184	0.0441	10	0.09084	T	0.74	-11.0925	18.7272	0.91718	0.0:1.0:0.0:0.0	.	421	Q9P2E3	ZNFX1_HUMAN	Y	421;421;421;421;421;225	ENSP00000360819:C421Y;ENSP00000360817:C421Y;ENSP00000379412:C421Y;ENSP00000360809:C421Y;ENSP00000413800:C225Y	ENSP00000360809:C421Y	C	-	2	0	ZNFX1	47320494	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	7.773000	0.85462	2.773000	0.95371	0.655000	0.94253	TGT		0.438	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		T	47887087	C	T	47887087	3	4	23	1	0	0	0	0	1	0	0	0	18205	478	17	2	4542	2	ZNFX1	20	47887087	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09		47887087	15138433	60	1275											
SLCO4A1	28231	genome.wustl.edu	37	20	61299422	61299422	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr20:61299422C>G	ENST00000370507.1	+	8	1793	c.1697C>G	c.(1696-1698)aCt>aGt	p.T566S	RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.T566S|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	566					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGCCATGCCACTGCAGGGAAA	0.473											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)											0			20											186	177	180					20																	61299422		2203	4300	6503	60769867	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1697C>G	20.37:g.61299422C>G	ENSP00000359538:p.Thr566Ser	1052	60769867	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554851	0.27739	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.38401	1.14;1.14	4.97	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.430781	0.24594	N	0.037181	T	0.30854	0.0778	L	0.56769	1.78	0.09310	N	1	B	0.21071	0.051	B	0.25759	0.063	T	0.21621	-1.0240	10	0.12766	T	0.61	.	7.8798	0.29616	0.1724:0.7432:0.0:0.0844	.	566	Q96BD0	SO4A1_HUMAN	S	566;566;566;418	ENSP00000217159:T566S;ENSP00000359538:T566S	ENSP00000217159:T566S	T	+	2	0	SLCO4A1	60769867	0.010000	0.17322	0.881000	0.34555	0.910000	0.53928	0.926000	0.28804	2.283000	0.76528	0.591000	0.81541	ACT		0.473	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		G	61299422	C	G	61299422	3	3	23	1	0	0	0	0	1	0	0	0	14732	565	20	3	1727	3	SLCO4A1	20	61299422	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	13412335	61299422	1726098	61	1276											
PRIC285	85441	genome.wustl.edu	37	20	62190635	62190635	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr20:62190635C>A	ENST00000467148.1	-	19	7983	c.7914G>T	c.(7912-7914)caG>caT	p.Q2638H	HELZ2_ENST00000427522.2_Missense_Mutation_p.Q2069H	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2638	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGACGCGCACCTGGCCGGCAG	0.672																																																0			20											16	14	15					20																	62190635		2188	4292	6480	61661079	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7914G>T	20.37:g.62190635C>A	ENSP00000417401:p.Gln2638His		61661079	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	9.841	1.191126	0.21954	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80033	-1.33;-1.23	3.5	2.44	0.29823	.	0.947197	0.08728	N	0.902537	T	0.68504	0.3008	L	0.33485	1.01	0.19300	N	0.999972	B;B	0.13594	0.008;0.002	B;B	0.13407	0.009;0.004	T	0.54827	-0.8235	10	0.33940	T	0.23	.	5.0429	0.14467	0.0:0.8249:0.0:0.1751	.	2638;2069	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	H	2069;2638	ENSP00000393257:Q2069H;ENSP00000417401:Q2638H	ENSP00000393257:Q2069H	Q	-	3	2	RP4-697K14.7	61661079	0.544000	0.26441	0.287000	0.24848	0.043000	0.13939	0.467000	0.22035	1.816000	0.52996	0.462000	0.41574	CAG		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62190635	C	A	62190635	3	1	23	1	0	0	0	0	1	0	0	0	12488	680	24	3	39	3	PRIC285	20	62190635	Missense_Mutation	SNP	C	TCGA-04-1516-01A-01D-1526-09	891213	62190635	834885	62	1277											
KLHL22	84861	genome.wustl.edu	37	22	20819202	20819202	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chr22:20819202T>A	ENST00000328879.4	-	4	1211	c.1055A>T	c.(1054-1056)tAc>tTc	p.Y352F	KLHL22_ENST00000440659.2_Missense_Mutation_p.Y209F	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	352				Y -> H (in Ref. 3; BAD96570). {ECO:0000305}.	cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCCAATCAAGTATACGAAGTT	0.542																																																0			22											100	90	93					22																	20819202		2203	4300	6503	19149202	SO:0001583	missense	84861				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1055A>T	22.37:g.20819202T>A	ENSP00000331682:p.Tyr352Phe		19149202	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597879	0.46318	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.73575	-0.76;-0.76	5.42	4.32	0.51571	Kelch-type beta propeller (1);	0.059231	0.64402	D	0.000001	T	0.65004	0.2650	L	0.41079	1.255	0.51233	D	0.999915	B;B	0.28998	0.23;0.051	B;B	0.31812	0.136;0.048	T	0.64647	-0.6358	10	0.44086	T	0.13	.	9.4579	0.38767	0.1588:0.0:0.0:0.8412	.	209;352	B7Z2G1;Q53GT1	.;KLH22_HUMAN	F	352;209	ENSP00000331682:Y352F;ENSP00000405521:Y209F	ENSP00000331682:Y352F	Y	-	2	0	KLHL22	19149202	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.674000	0.61612	2.046000	0.60703	0.533000	0.62120	TAC		0.542	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		A	20819202	T	A	20819202	3	1	23	1	0	0	0	0	1	0	0	0	8377	1638	57	5	865	5	KLHL22	22	20819202	Missense_Mutation	SNP	T	TCGA-04-1516-01A-01D-1526-09		20819202	30485364	63	1278											
ARHGAP6	395	genome.wustl.edu	37	X	11160360	11160360	+	Silent	SNP	T	T	A			TCGA-04-1516-01A-01D-1526-09	TCGA-04-1516-11B-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4e700ddb-522d-4bb6-808c-dae3296a813a	d8159f60-4e36-4ac8-ab39-557cf0d41775	g.chrX:11160360T>A	ENST00000337414.4	-	12	3122	c.2250A>T	c.(2248-2250)ggA>ggT	p.G750G	ARHGAP6_ENST00000380736.1_Silent_p.G547G|ARHGAP6_ENST00000303025.6_Silent_p.G547G|ARHGAP6_ENST00000534860.1_Silent_p.G575G	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	750					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CACCTGTCATTCCTGGGTCTT	0.313																																																0			X											105	101	102					X																	11160360		2203	4300	6503	11070281	SO:0001819	synonymous_variant	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2250A>T	X.37:g.11160360T>A			11070281	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	CCDS14140.1																																																																																				0.313	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		A	11160360	T	A	11160360	2	1	23	1	0	0	0	0	0	0	0	1	887	1770	62	5		5	ARHGAP6	23	11160360	Silent	SNP	T	TCGA-04-1516-01A-01D-1526-09		11160360	144110200	64	1279											
LRRC15	131578	hgsc.bcm.edu	37	3	194080112	194080112	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr3:194080112G>C	ENST00000347624.3	-	2	1746	c.1661C>G	c.(1660-1662)tCc>tGc	p.S554C	LRRC15_ENST00000439944.2_Missense_Mutation_p.S560C|LRRC15_ENST00000428839.1_Missense_Mutation_p.S560C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	554					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.S554C(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGCAGCCAGGGAGCAGGCCAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											62	62	62					3																	194080112		2203	4300	6503	195561407	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1661C>G	3.37:g.194080112G>C	ENSP00000306276:p.Ser554Cys		195561407	Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385289	0.61956	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.57273	0.41;0.44;0.44	5.48	5.48	0.80851	.	0.511250	0.18877	N	0.128694	T	0.60521	0.2275	N	0.24115	0.695	0.37541	D	0.918315	D;D	0.89917	0.999;1.0	D;D	0.69479	0.921;0.964	T	0.64097	-0.6487	10	0.48119	T	0.1	.	17.9172	0.88955	0.0:0.0:1.0:0.0	.	554;560	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	C	554;560;560	ENSP00000306276:S554C;ENSP00000389128:S560C;ENSP00000413707:S560C	ENSP00000306276:S554C	S	-	2	0	LRRC15	195561407	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	6.013000	0.70776	2.758000	0.94735	0.563000	0.77884	TCC		0.597	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			C	194080112	G	C	194080112	3	2	24	1	0	0	0	0	1	0	0	0	8970	1174	41	3	88	3	LRRC15	3	194080112	Missense_Mutation	SNP	G	TCGA-04-1517-01A-01W-0615-10		194080112	3942318	1	1280											
PIGG	54872	hgsc.bcm.edu	37	4	520847	520864	+	In_Frame_Del	DEL	CTCTCTGTCCTGGCTGCC	CTCTCTGTCCTGGCTGCC	-	rs13114026	byFrequency	TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	CTCTCTGTCCTGGCTGCC	CTCTCTGTCCTGGCTGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr4:520847_520864delCTCTCTGTCCTGGCTGCC	ENST00000453061.2	+	10	2195_2212	c.2089_2106delCTCTCTGTCCTGGCTGCC	c.(2089-2106)ctctctgtcctggctgccdel	p.LSVLAA697del	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_In_Frame_Del_p.LSVLAA564del|PIGG_ENST00000504346.1_In_Frame_Del_p.LSVLAA608del|PIGG_ENST00000310340.5_In_Frame_Del_p.LSVLAA689del	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	697					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.L689_A694delLSVLAA(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAAAGCCGAGCTCTCTGTCCTGGCTGCCCTCTCCCTCC	0.56																																																1	Deletion - In frame(1)	ovary(1)	4																																								510864	SO:0001651	inframe_deletion	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2089_2106delCTCTCTGTCCTGGCTGCC	4.37:g.520847_520864delCTCTCTGTCCTGGCTGCC	ENSP00000415203:p.Leu697_Ala702del		510847	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	In_Frame_Del	DEL	ENST00000453061.2	37	CCDS46992.1																																																																																				0.56	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		-	520864	CTCTCTGTCCTGGCTGCC	-	520847	7	5	24	1	0	1	0	1	0	0	0	0	11888	797	28	0	2127	0	PIGG	4	520847	In_Frame_Del	DEL	CTCTCTGTCCTGGCTGCC	TCGA-04-1517-01A-01W-0615-10		520847	190633429	2	1281											
BHMT2	23743	hgsc.bcm.edu	37	5	78379052	78379052	+	Silent	SNP	C	C	T	rs151238476		TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr5:78379052C>T	ENST00000255192.3	+	6	702	c.636C>T	c.(634-636)ccC>ccT	p.P212P	BHMT2_ENST00000521567.1_Silent_p.P148P|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	212	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)	p.P212P(2)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GCTTTGGGCCCGACACCAGCT	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		17532	0		0	False		,,,				2504	0															2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	5						C	,	16,4390	23.3+/-48.9	0,16,2187	53	52	52		444,636	-3.8	0	5	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BHMT2	NM_001178005.1,NM_017614.4	,	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	,	148/300,212/364	78379052	16,12990	2203	4300	6503	78414808	SO:0001819	synonymous_variant	23743				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.636C>T	5.37:g.78379052C>T			78414808	B7Z516|Q9NXX7	Silent	SNP	ENST00000255192.3	37	CCDS4045.1																																																																																				0.483	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		T	78379052	C	T	78379052	2	4	24	1	0	0	0	0	0	0	0	1	1426	639	23	1		1	BHMT2	5	78379052	Silent	SNP	C	TCGA-04-1517-01A-01W-0615-10		78379052	102536208	3	1282											
CHSY3	337876	hgsc.bcm.edu	37	5	129520720	129520720	+	Missense_Mutation	SNP	G	G	A	rs145272862	byFrequency	TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr5:129520720G>A	ENST00000305031.4	+	3	2243	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	629					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.G629R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCCTCTCATCGGAAGGTATGA	0.353																																																1	Substitution - Missense(1)	ovary(1)	5						G	ARG/GLY	0,4406	2.1+/-5.4	0,0,2203	73	74	74		1885	4.1	1	5	dbSNP_134	74	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CHSY3	NM_175856.4	125	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	629/883	129520720	4,13002	2203	4300	6503	129548619	SO:0001583	missense	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1885G>A	5.37:g.129520720G>A	ENSP00000302629:p.Gly629Arg		129548619	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601961	0.66445	0.0	4.65E-4	ENSG00000198108	ENST00000305031	T	0.35048	1.33	4.12	4.12	0.48240	.	0.000000	0.53938	D	0.000054	T	0.61652	0.2364	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64681	-0.6350	9	.	.	.	-5.0315	17.6798	0.88239	0.0:0.0:1.0:0.0	.	629	Q70JA7	CHSS3_HUMAN	R	629	ENSP00000302629:G629R	.	G	+	1	0	CHSY3	129548619	1.000000	0.71417	0.953000	0.39169	0.931000	0.56810	9.597000	0.98273	2.559000	0.86315	0.650000	0.86243	GGA		0.353	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		A	129520720	G	A	129520720	3	1	24	1	0	0	0	0	1	0	0	0	3413	1117	39	1	1895	1	CHSY3	5	129520720	Missense_Mutation	SNP	G	TCGA-04-1517-01A-01W-0615-10	51141668	129520720	51394540	4	1283											
NR3C1	2908	hgsc.bcm.edu	37	5	142678313	142678313	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr5:142678313C>G	ENST00000343796.2	-	6	2805	c.1812G>C	c.(1810-1812)atG>atC	p.M604I	NR3C1_ENST00000424646.2_Missense_Mutation_p.M578I|NR3C1_ENST00000503201.1_Missense_Mutation_p.M604I|NR3C1_ENST00000394464.2_Missense_Mutation_p.M604I|NR3C1_ENST00000416954.2_Missense_Mutation_p.M207I|NR3C1_ENST00000394466.2_Missense_Mutation_p.M605I|NR3C1_ENST00000415690.2_Missense_Mutation_p.M604I|NR3C1_ENST00000231509.3_Missense_Mutation_p.M605I|NR3C1_ENST00000504572.1_Missense_Mutation_p.M605I|NR3C1_ENST00000504336.1_5'Flank	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	604	Interaction with CLOCK.|Interaction with CRY1.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.M605I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GAGCAAATGCCATAAGAAACA	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											128	116	120					5																	142678313		2203	4300	6503	142658506	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1812G>C	5.37:g.142678313C>G	ENSP00000343205:p.Met604Ile		142658506	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278153	0.95459	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;T;D;D;D;D;D;D	0.95447	-3.71;-3.71;1.37;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.88	5.88	0.94601	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	M	0.82056	2.57	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.995	D;D;D	0.76071	0.98;0.945;0.987	D	0.98003	1.0361	10	0.72032	D	0.01	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	604;604;605	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	I	604;604;604;578;605;605;605;207;604	ENSP00000377977:M604I;ENSP00000343205:M604I;ENSP00000387672:M604I;ENSP00000405282:M578I;ENSP00000422518:M605I;ENSP00000377979:M605I;ENSP00000231509:M605I;ENSP00000404218:M207I;ENSP00000427672:M604I	ENSP00000231509:M605I	M	-	3	0	NR3C1	142658506	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.818000	0.86416	2.789000	0.95967	0.591000	0.81541	ATG		0.408	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			G	142678313	C	G	142678313	3	3	24	1	0	0	0	0	1	0	0	0	10630	594	21	3	589	3	NR3C1	5	142678313	Missense_Mutation	SNP	C	TCGA-04-1517-01A-01W-0615-10	13157593	142678313	38236947	5	1284											
SEMA3E	9723	hgsc.bcm.edu	37	7	83037703	83037703	+	Silent	SNP	G	G	A			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr7:83037703G>A	ENST00000307792.3	-	6	1118	c.651C>T	c.(649-651)gaC>gaT	p.D217D	SEMA3E_ENST00000427262.1_Silent_p.D157D	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	217	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D217D(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GACGCTCATCGTCATGCTCAG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	7											72	68	69					7																	83037703		2203	4300	6503	82875639	SO:0001819	synonymous_variant	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.651C>T	7.37:g.83037703G>A			82875639	B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	CCDS34674.1																																																																																				0.448	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	83037703	G	A	83037703	2	1	24	1	0	0	0	0	0	0	0	1	14031	1136	40	1		1	SEMA3E	7	83037703	Silent	SNP	G	TCGA-04-1517-01A-01W-0615-10		83037703	76100960	6	1285											
GJC3	349149	hgsc.bcm.edu	37	7	99526508	99526508	+	Missense_Mutation	SNP	C	C	T	rs191464858		TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr7:99526508C>T	ENST00000312891.2	-	1	735	c.736G>A	c.(736-738)Gat>Aat	p.D246N	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	246					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)		p.D246N(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGGAGGCTATCGGTTGCTTTC	0.478													C|||	1	0.000199681	0	0	5008	,	,		19703	0.001		0	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	7											133	130	131					7																	99526508		2203	4300	6503	99364444	SO:0001583	missense	349149			AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"Ion channels / Gap junction proteins (connexins)"	17495	protein-coding gene	gene with protein product	"connexin 30.2"	611925	"gap junction protein, epsilon 1, 29kDa"	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.736G>A	7.37:g.99526508C>T	ENSP00000325775:p.Asp246Asn		99364444	A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	CCDS34697.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.624	0.116041	0.08831	.	.	ENSG00000176402	ENST00000312891	D	0.97941	-4.62	3.75	0.763	0.18459	.	2.765090	0.01548	N	0.019552	D	0.92205	0.7528	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.04013	0.001	D	0.87471	0.2414	10	0.17369	T	0.5	.	5.4255	0.16423	0.0:0.5913:0.0:0.4087	.	246	Q8NFK1	CXG3_HUMAN	N	246	ENSP00000325775:D246N	ENSP00000325775:D246N	D	-	1	0	GJC3	99364444	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.166000	0.09954	0.143000	0.18926	0.655000	0.94253	GAT		0.478	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		T	99526508	C	T	99526508	3	4	24	1	0	0	0	0	1	0	0	0	6416	884	31	1	111	1	GJC3	7	99526508	Missense_Mutation	SNP	C	TCGA-04-1517-01A-01W-0615-10	16488805	99526508	59612155	7	1286											
NRF1	4899	hgsc.bcm.edu	37	7	129350263	129350263	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr7:129350263A>T	ENST00000393232.1	+	7	932	c.815A>T	c.(814-816)cAg>cTg	p.Q272L	NRF1_ENST00000223190.4_Missense_Mutation_p.Q272L|NRF1_ENST00000393230.2_Missense_Mutation_p.Q272L|NRF1_ENST00000539636.1_Missense_Mutation_p.Q111L|NRF1_ENST00000393231.3_Missense_Mutation_p.Q272L|NRF1_ENST00000353868.4_Intron|NRF1_ENST00000311967.2_Missense_Mutation_p.Q272L	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	272					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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 positive regulation of transcription (GO:0001077)	p.Q272L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TGTTATAAACAGCATGGGCGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	7											152	137	143					7																	129350263		2203	4300	6503	129137499	SO:0001583	missense	4899			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.815A>T	7.37:g.129350263A>T	ENSP00000376924:p.Gln272Leu		129137499	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	A	18.30	3.592899	0.66219	.	.	ENSG00000106459	ENST00000393232;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.45	5.45	0.79879	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.102760	0.64402	D	0.000002	T	0.40423	0.1116	N	0.08118	0	0.80722	D	1	B;B	0.18610	0.017;0.029	B;B	0.24006	0.05;0.03	T	0.30937	-0.9961	9	0.46703	T	0.11	-12.0975	14.8657	0.70412	1.0:0.0:0.0:0.0	.	272;272	Q96AN2;Q16656	.;NRF1_HUMAN	L	272;111;272;272;272;272	.	ENSP00000223190:Q272L	Q	+	2	0	NRF1	129137499	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.084000	0.94076	2.288000	0.76882	0.528000	0.53228	CAG		0.443	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		T	129350263	A	T	129350263	3	4	24	1	0	0	0	0	1	0	0	0	10646	188	7	5	837	5	NRF1	7	129350263	Missense_Mutation	SNP	A	TCGA-04-1517-01A-01W-0615-10	29823755	129350263	29788400	8	1287											
DDHD2	23259	hgsc.bcm.edu	37	8	38110293	38110293	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr8:38110293T>G	ENST00000397166.2	+	14	2196	c.1671T>G	c.(1669-1671)ttT>ttG	p.F557L	DDHD2_ENST00000529845.1_Missense_Mutation_p.F8L|DDHD2_ENST00000520272.2_Missense_Mutation_p.F557L|DDHD2_ENST00000517385.1_Missense_Mutation_p.F176L	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	557	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.F557L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAGTGGAATTTGAGCCAATGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	8											143	126	132					8																	38110293		2203	4300	6503	38229450	SO:0001583	missense	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1671T>G	8.37:g.38110293T>G	ENSP00000380352:p.Phe557Leu		38229450	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	CCDS34883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.592|6.592	0.477568|0.477568	0.12521|0.12521	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845|ENST00000526144	T;T|.	0.26518|.	1.73;1.73|.	5.34|5.34	4.19|4.19	0.49359|0.49359	DDHD (2);|.	0.242758|.	0.43747|.	D|.	0.000521|.	T|T	0.31702|0.31702	0.0805|0.0805	N|N	0.04880|0.04880	-0.145|-0.145	0.47123|0.47123	D|D	0.999328|0.999328	B|.	0.09022|.	0.002|.	B|.	0.14023|.	0.01|.	T|T	0.08249|0.08249	-1.0731|-1.0731	10|5	0.02654|.	T|.	1|.	-23.7336|-23.7336	9.2995|9.2995	0.37835|0.37835	0.0:0.1515:0.0:0.8485|0.0:0.1515:0.0:0.8485	.|.	557|.	O94830|.	DDHD2_HUMAN|.	L|W	557;557;176;8|59	ENSP00000380352:F557L;ENSP00000429932:F557L|.	ENSP00000380352:F557L|.	F|L	+|+	3|2	2|0	DDHD2|DDHD2	38229450|38229450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	1.132000|1.132000	0.31418|0.31418	0.978000|0.978000	0.38470|0.38470	0.260000|0.260000	0.18958|0.18958	TTT|TTG		0.448	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		G	38110293	T	G	38110293	3	3	24	1	0	0	0	0	1	0	0	0	4327	1809	63	5	1783	5	DDHD2	8	38110293	Missense_Mutation	SNP	T	TCGA-04-1517-01A-01W-0615-10		38110293	108253729	9	1288											
C10orf113	387638	hgsc.bcm.edu	37	10	21414853	21414853	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr10:21414853C>T	ENST00000534331.1	-	2	417	c.367G>A	c.(367-369)Gga>Aga	p.G123R	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.G113R|C10orf113_ENST00000529198.1_3'UTR	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	123								p.G113R(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						CCTTCTGGTCCCAGAGACAGC	0.488																																																2	Substitution - Missense(2)	ovary(2)	10											90	90	90					10																	21414853		2203	4300	6503	21454859	SO:0001583	missense	387638				CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.367G>A	10.37:g.21414853C>T	ENSP00000433646:p.Gly123Arg		21454859	B9EIM9|E9PRX7	Missense_Mutation	SNP	ENST00000534331.1	37	CCDS31162.2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346167	0.41599	.	.	ENSG00000204683	ENST00000534331;ENST00000377118	T;T	0.46451	0.87;0.87	4.81	2.47	0.30058	.	.	.	.	.	T	0.22085	0.0532	N	0.08118	0	0.24878	N	0.99224	B	0.32800	0.385	B	0.32583	0.148	T	0.15925	-1.0420	9	0.87932	D	0	-0.7563	6.2531	0.20859	0.0:0.7146:0.0:0.2854	.	123	Q5VZT2	CJ113_HUMAN	R	123;113	ENSP00000433646:G123R;ENSP00000366322:G113R	ENSP00000366322:G113R	G	-	1	0	C10orf113	21454859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.270000	0.33086	0.527000	0.28560	0.460000	0.39030	GGA		0.488	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896		T	21414853	C	T	21414853	3	4	24	1	0	0	0	0	1	0	0	0	1584	632	22	2	104	2	C10orf113	10	21414853	Missense_Mutation	SNP	C	TCGA-04-1517-01A-01W-0615-10		21414853	114119894	10	1289											
ANO4	121601	hgsc.bcm.edu	37	12	101477519	101477519	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr12:101477519G>C	ENST00000392977.3	+	16	1669	c.1459G>C	c.(1459-1461)Gga>Cga	p.G487R	ANO4_ENST00000550015.1_Intron|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000392979.3_Missense_Mutation_p.G452R			Q32M45	ANO4_HUMAN	anoctamin 4	487					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G452R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCCAATTTCTGGAAAGCCAGA	0.348										HNSCC(74;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											98	101	100					12																	101477519		2203	4300	6503	100001650	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1459G>C	12.37:g.101477519G>C	ENSP00000376703:p.Gly487Arg		100001650	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.356867	0.82243	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.66460	-0.21;-0.21	5.78	5.78	0.91487	.	0.130338	0.50627	D	0.000112	T	0.77718	0.4172	M	0.62723	1.935	0.80722	D	1	D;D	0.61697	0.985;0.99	D;P	0.64506	0.926;0.878	T	0.69221	-0.5202	10	0.09338	T	0.73	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	487;452	Q32M45;Q32M45-2	ANO4_HUMAN;.	R	452;487	ENSP00000376705:G452R;ENSP00000376703:G487R	ENSP00000376703:G487R	G	+	1	0	ANO4	100001650	1.000000	0.71417	0.977000	0.42913	0.928000	0.56348	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	GGA		0.348	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		C	101477519	G	C	101477519	3	2	24	1	0	0	0	0	1	0	0	0	699	1349	47	3	1408	3	ANO4	12	101477519	Missense_Mutation	SNP	G	TCGA-04-1517-01A-01W-0615-10		101477519	32374376	11	1290											
NRXN3	9369	hgsc.bcm.edu	37	14	79432697	79432697	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr14:79432697C>A	ENST00000554719.1	+	9	2097	c.1606C>A	c.(1606-1608)Ctc>Atc	p.L536I	NRXN3_ENST00000335750.5_Missense_Mutation_p.L536I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	127					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.L536I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGCTTCATTCTCTTCAATAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	14											174	147	156					14																	79432697		2203	4300	6503	78502450	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1606C>A	14.37:g.79432697C>A	ENSP00000451648:p.Leu536Ile		78502450	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273958	0.59649	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	D;D	0.86956	-2.19;-2.19	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.129992	0.52532	D	0.000070	D	0.83385	0.5243	.	.	.	0.48632	D	0.999686	B;B	0.13145	0.006;0.007	B;B	0.26094	0.066;0.049	T	0.76080	-0.3090	8	.	.	.	.	20.2786	0.98501	0.0:1.0:0.0:0.0	.	909;536	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	I	909;898;536;536	ENSP00000451648:L536I;ENSP00000338349:L536I	.	L	+	1	0	NRXN3	78502450	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.109000	0.50345	2.868000	0.98415	0.557000	0.71058	CTC		0.473	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		A	79432697	C	A	79432697	3	1	24	1	0	0	0	0	1	0	0	0	10667	913	32	3	1632	3	NRXN3	14	79432697	Missense_Mutation	SNP	C	TCGA-04-1517-01A-01W-0615-10		79432697	27916843	12	1291											
FLRT2	23768	hgsc.bcm.edu	37	14	86089196	86089196	+	Silent	SNP	C	C	T	rs142242956		TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr14:86089196C>T	ENST00000330753.4	+	2	2105	c.1338C>T	c.(1336-1338)acC>acT	p.T446T	FLRT2_ENST00000554746.1_Silent_p.T446T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	446	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.T446T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCTCTTCACCGTGATGGCAT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	14						C		0,4406		0,0,2203	80	74	76		1338	-8	0.7	14	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLRT2	NM_013231.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		446/661	86089196	1,13005	2203	4300	6503	85158949	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1338C>T	14.37:g.86089196C>T			85158949	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.498	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			T	86089196	C	T	86089196	2	4	24	1	0	0	0	0	0	0	0	1	5939	639	23	1		1	FLRT2	14	86089196	Silent	SNP	C	TCGA-04-1517-01A-01W-0615-10	6656499	86089196	21260344	13	1292											
TMCO5A	145942	hgsc.bcm.edu	37	15	38235571	38235571	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr15:38235571A>G	ENST00000319669.4	+	9	701	c.599A>G	c.(598-600)gAa>gGa	p.E200G	TMCO5A_ENST00000540944.1_Missense_Mutation_p.E200G|TMCO5A_ENST00000559502.1_Missense_Mutation_p.E200G|TMCO5A_ENST00000558158.1_3'UTR	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	200						integral component of membrane (GO:0016021)		p.E200G(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AACCCTGTGGAAAAAGAGCAT	0.393																																																1	Substitution - Missense(1)	ovary(1)	15											175	150	158					15																	38235571		2200	4297	6497	36022863	SO:0001583	missense	145942			BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 5"	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.599A>G	15.37:g.38235571A>G	ENSP00000327234:p.Glu200Gly		36022863	Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	A	4.937	0.174113	0.09391	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.95	-1.58	0.08479	.	1.239810	0.05568	N	0.570647	T	0.28034	0.0691	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19063	-1.0317	9	0.28530	T	0.3	-8.7042	5.6116	0.17408	0.332:0.0:0.5371:0.1309	.	200;200	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	G	200	.	ENSP00000327234:E200G	E	+	2	0	TMCO5A	36022863	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.442000	0.21628	-0.379000	0.07906	-2.424000	0.00217	GAA		0.393	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		G	38235571	A	G	38235571	3	3	24	1	0	0	0	0	1	0	0	0	15999	246	9	4	629	4	TMCO5A	15	38235571	Missense_Mutation	SNP	A	TCGA-04-1517-01A-01W-0615-10		38235571	64295821	14	1293											
TARSL2	123283	hgsc.bcm.edu	37	15	102226159	102226159	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr15:102226159A>C	ENST00000335968.3	-	11	1643	c.1427T>G	c.(1426-1428)tTt>tGt	p.F476C	snoU13_ENST00000458877.1_RNA	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	476					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.F476C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAAAGGTAAACATGTTCTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	15											158	145	149					15																	102226159		2203	4300	6503	100043682	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1427T>G	15.37:g.102226159A>C	ENSP00000338093:p.Phe476Cys		100043682	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373173	0.82573	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.69685	-0.42;-0.42	5.82	5.82	0.92795	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.89729	0.6799	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93726	0.7037	10	0.87932	D	0	-20.4604	14.1334	0.65270	1.0:0.0:0.0:0.0	.	476;381	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	C	476;381;476	ENSP00000338093:F476C;ENSP00000439899:F476C	ENSP00000329291:F381C	F	-	2	0	TARSL2	100043682	1.000000	0.71417	0.987000	0.45799	0.959000	0.62525	9.103000	0.94232	2.234000	0.73211	0.533000	0.62120	TTT		0.468	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		C	102226159	A	C	102226159	3	2	24	1	0	0	0	0	1	0	0	0	15561	14	1	5	1017	5	TARSL2	15	102226159	Missense_Mutation	SNP	A	TCGA-04-1517-01A-01W-0615-10	63990588	102226159	305233	15	1294											
TP53	7157	hgsc.bcm.edu	37	17	7579494	7579494	+	Nonsense_Mutation	SNP	T	T	A			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr17:7579494T>A	ENST00000269305.4	-	4	382	c.193A>T	c.(193-195)Aga>Tga	p.R65*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R65*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R65*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R65*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R65*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.R65*	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	65	Interaction with HRMT1L2.		R -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R65*(11)|p.0?(8)|p.R65fs*84(3)|p.G59fs*23(3)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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)	TCTGGCATTCTGGGAGCTTCA	0.617		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"	31	Substitution - Nonsense(11)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(3)|Deletion - In frame(2)	lung(7)|urinary_tract(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|pancreas(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(1)	17											125	130	128					17																	7579494		2203	4300	6503	7520219	SO:0001587	stop_gained	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.193A>T	17.37:g.7579494T>A	ENSP00000269305:p.Arg65*		7520219	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039059	0.55003	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.84	-2.61	0.06171	.	1.821500	0.02314	N	0.072344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	5.1499	6.7205	0.23328	0.0:0.3628:0.4224:0.2149	.	.	.	.	X	65	.	ENSP00000269305:R65X	R	-	1	2	TP53	7520219	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.045000	0.14013	-0.480000	0.06803	0.459000	0.35465	AGA		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7579494	T	A	7579494	4	1	24	1	0	0	0	0	0	1	0	0	16381	1588	55	5	1109	5	TP53	17	7579494	Nonsense_Mutation	SNP	T	TCGA-04-1517-01A-01W-0615-10		7579494	73615716	16	1295											
CALCOCO2	10241	hgsc.bcm.edu	37	17	46937737	46937737	+	Missense_Mutation	SNP	C	C	T	rs369142528		TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr17:46937737C>T	ENST00000258947.3	+	11	1171	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P378L|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P315L|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P381L|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P285L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	357					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)	p.P357L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AATTCTTTGCCGTATCAAGTA	0.408																																																1	Substitution - Missense(1)	ovary(1)	17						C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	143	138	140		1070	-0.7	0	17		140	0,8600		0,0,4300	no	missense	CALCOCO2	NM_005831.3	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	357/447	46937737	1,13005	2203	4300	6503	44292736	SO:0001583	missense	10241			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.1070C>T	17.37:g.46937737C>T	ENSP00000258947:p.Pro357Leu		44292736	B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	CCDS11538.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065872	0.36470	2.27E-4	0.0	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000416445;ENST00000508679	T;T;T;T;T	0.16073	2.73;2.62;2.73;2.6;2.37	5.56	-0.676	0.11361	.	0.499687	0.18587	N	0.136849	T	0.12178	0.0296	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.13594	0.008;0.002;0.001;0.001	B;B;B;B	0.06405	0.002;0.0;0.001;0.001	T	0.18335	-1.0340	10	0.39692	T	0.17	-0.1299	3.9568	0.09393	0.2842:0.4493:0.0:0.2665	.	315;381;378;357	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	L	357;378;381;315;285	ENSP00000258947:P357L;ENSP00000424352:P378L;ENSP00000398523:P381L;ENSP00000406974:P315L;ENSP00000423437:P285L	ENSP00000258947:P357L	P	+	2	0	CALCOCO2	44292736	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	0.027000	0.13621	0.029000	0.15352	-0.158000	0.13435	CCG		0.408	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		T	46937737	C	T	46937737	3	4	24	1	0	0	0	0	1	0	0	0	2578	652	23	1	1108	1	CALCOCO2	17	46937737	Missense_Mutation	SNP	C	TCGA-04-1517-01A-01W-0615-10	39358243	46937737	34257473	17	1296											
TTR	7276	hgsc.bcm.edu	37	18	29175118	29175118	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr18:29175118C>T	ENST00000237014.3	+	3	413	c.236C>T	c.(235-237)aCa>aTa	p.T79I		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	79			T -> K (in AMYL-TTR; amyloid cardiomyopathy). {ECO:0000269|PubMed:7850982}.		extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)	p.T79I(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CATGGGCTCACAACTGAGGAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	18	GRCh37	CM951252	TTR	M							89	76	80					18																	29175118		2203	4300	6503	27429116	SO:0001583	missense	7276			M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"prealbumin, amyloidosis type I", "carpal tunnel syndrome 1"	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.236C>T	18.37:g.29175118C>T	ENSP00000237014:p.Thr79Ile		27429116	Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	ENST00000237014.3	37	CCDS11899.1	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130128	0.21041	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.95205	-3.64	5.54	5.54	0.83059	Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.155567	0.56097	D	0.000026	D	0.92948	0.7756	N	0.20685	0.6	0.45378	D	0.998367	P	0.45396	0.857	P	0.61275	0.886	D	0.89039	0.3447	10	0.10902	T	0.67	-8.395	12.7675	0.57401	0.0:0.9242:0.0:0.0758	.	79	P02766	TTHY_HUMAN	I	79	ENSP00000237014:T79I	ENSP00000237014:T79I	T	+	2	0	TTR	27429116	0.998000	0.40836	0.999000	0.59377	0.406000	0.30931	4.117000	0.57877	2.764000	0.94973	0.655000	0.94253	ACA		0.443	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1	NM_000371		T	29175118	C	T	29175118	3	4	24	1	0	0	0	0	1	0	0	0	16738	478	17	2	246	2	TTR	18	29175118	Missense_Mutation	SNP	C	TCGA-04-1517-01A-01W-0615-10		29175118	48902130	18	1297											
CDH4	1002	hgsc.bcm.edu	37	20	60419770	60419770	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1517-01A-01W-0615-10	TCGA-04-1517-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	44dbc3b1-d994-451b-9453-f2511ecafc59	9dbf43ee-1701-4045-892a-4ccc4c202d69	g.chr20:60419770C>T	ENST00000360469.5	+	5	711	c.623C>T	c.(622-624)aCg>aTg	p.T208M	CDH4_ENST00000543233.1_Missense_Mutation_p.T134M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	208	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T208M(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TACAGCATCACGGGAGTGGGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	20											90	78	82					20																	60419770		2203	4300	6503	59853165	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.623C>T	20.37:g.60419770C>T	ENSP00000353656:p.Thr208Met		59853165	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912930	0.52439	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53206	0.63;0.63	3.68	3.68	0.42216	Cadherin (4);Cadherin-like (1);	0.117348	0.56097	D	0.000023	T	0.69931	0.3166	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75593	-0.3264	9	.	.	.	.	15.7299	0.77792	0.0:1.0:0.0:0.0	.	208	P55283	CADH4_HUMAN	M	208;116;134	ENSP00000353656:T208M;ENSP00000443301:T134M	.	T	+	2	0	CDH4	59853165	1.000000	0.71417	0.998000	0.56505	0.063000	0.16089	7.491000	0.81471	1.753000	0.51906	0.313000	0.20887	ACG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60419770	C	T	60419770	3	4	24	1	0	0	0	0	1	0	0	0	3112	536	19	1	641	1	CDH4	20	60419770	Missense_Mutation	SNP	C	TCGA-04-1517-01A-01W-0615-10		60419770	2605750	19	1298											
ITPR3	3710	hgsc.bcm.edu	37	6	33657892	33657892	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1519-01A-01W-0615-10	TCGA-04-1519-11A-01W-0615-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e68bba74-8d0d-4ff2-be4d-f8f7dfc0f143	bc6225e4-17c2-42fa-a39c-66e75ab93fed	g.chr6:33657892G>A	ENST00000374316.5	+	52	8009	c.6949G>A	c.(6949-6951)Gac>Aac	p.D2317N	ITPR3_ENST00000605930.1_Missense_Mutation_p.D2317N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2317					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.D2317N(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CATGGTCATGGACATGGAATT	0.572																																																1	Substitution - Missense(1)	ovary(1)	6											157	127	137					6																	33657892		2203	4300	6503	33765870	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6949G>A	6.37:g.33657892G>A	ENSP00000363435:p.Asp2317Asn		33765870	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577886	0.96565	.	.	ENSG00000096433	ENST00000374316	D	0.98717	-5.09	5.4	5.4	0.78164	Ion transport (1);	0.096410	0.64402	D	0.000002	D	0.99023	0.9666	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99616	1.0982	10	0.51188	T	0.08	-42.6754	19.1858	0.93644	0.0:0.0:1.0:0.0	.	2317;1987	Q14573;Q59ES2	ITPR3_HUMAN;.	N	2317	ENSP00000363435:D2317N	ENSP00000363435:D2317N	D	+	1	0	ITPR3	33765870	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.559000	0.86315	0.462000	0.41574	GAC		0.572	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33657892	G	A	33657892	3	1	25	1	0	0	0	0	1	0	0	0	7922	1174	41	2	7151	2	ITPR3	6	33657892	Missense_Mutation	SNP	G	TCGA-04-1519-01A-01W-0615-10		33657892	137457175	1	1299											
DBC1	1620	hgsc.bcm.edu	37	9	122011322	122011322	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1519-01A-01W-0615-10	TCGA-04-1519-11A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e68bba74-8d0d-4ff2-be4d-f8f7dfc0f143	bc6225e4-17c2-42fa-a39c-66e75ab93fed	g.chr9:122011322C>A	ENST00000265922.3	-	3	786	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C	BRINP1_ENST00000373964.2_Missense_Mutation_p.G109C	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	109	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.G109C(1)									GGTCTCCTGCCAAGCAGGCGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	9											126	97	107					9																	122011322		2203	4300	6503	121051143	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.325G>T	9.37:g.122011322C>A	ENSP00000265922:p.Gly109Cys		121051143	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167879	0.94768	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.84223	-1.82;-1.82	5.66	5.66	0.87406	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.91838	0.7417	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91851	0.5491	10	0.87932	D	0	-27.0288	20.1076	0.97898	0.0:1.0:0.0:0.0	.	109;109	O60477-2;O60477	.;DBC1_HUMAN	C	109	ENSP00000265922:G109C;ENSP00000363075:G109C	ENSP00000265922:G109C	G	-	1	0	DBC1	121051143	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.776000	0.85560	2.823000	0.97156	0.650000	0.86243	GGC		0.567	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		A	122011322	C	A	122011322	3	1	25	1	0	0	0	0	1	0	0	0	4247	594	21	3	1984	3	DBC1	9	122011322	Missense_Mutation	SNP	C	TCGA-04-1519-01A-01W-0615-10		122011322	19202109	2	1300											
ITSN1	6453	hgsc.bcm.edu	37	21	35257411	35257411	+	Silent	SNP	C	C	T	rs148797721	byFrequency	TCGA-04-1519-01A-01W-0615-10	TCGA-04-1519-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e68bba74-8d0d-4ff2-be4d-f8f7dfc0f143	bc6225e4-17c2-42fa-a39c-66e75ab93fed	g.chr21:35257411C>T	ENST00000381318.3	+	37	5031	c.4743C>T	c.(4741-4743)cgC>cgT	p.R1581R	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.R1520R|ITSN1_ENST00000381285.4_Silent_p.R1581R|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.R1576R	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1581					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1581R(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAAAGAAGCGCGAGAAAGCGT	0.517																																																1	Substitution - coding silent(1)	ovary(1)	21						C		4,4402	9.9+/-24.2	0,4,2199	74	71	72		4743	-1.7	1	21	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	ITSN1	NM_003024.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		1581/1722	35257411	4,13002	2203	4300	6503	34179281	SO:0001819	synonymous_variant	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4743C>T	21.37:g.35257411C>T			34179281	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	9.983	1.228758	0.22542	9.08E-4	0.0	ENSG00000205726	ENST00000381284	.	.	.	5.58	-1.73	0.08081	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.4274	0.02326	0.2868:0.2562:0.3351:0.1218	.	.	.	.	X	261	.	ENSP00000370684:R261X	R	+	1	2	ITSN1	34179281	0.995000	0.38212	0.993000	0.49108	0.984000	0.73092	0.250000	0.18235	-0.345000	0.08325	-0.165000	0.13383	CGA		0.517	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		T	35257411	C	T	35257411	2	4	25	1	0	0	0	0	0	0	0	1	7926	755	27	1		1	ITSN1	21	35257411	Silent	SNP	C	TCGA-04-1519-01A-01W-0615-10		35257411	12872484	3	1301											
MTOR	2475	hgsc.bcm.edu	37	1	11272943	11272943	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr1:11272943A>T	ENST00000361445.4	-	22	3384	c.3308T>A	c.(3307-3309)tTt>tAt	p.F1103Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1103					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.F1103Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GTTGGCGCCAAACAGCTGGAT	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											97	82	87					1																	11272943		2203	4300	6503	11195530	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3308T>A	1.37:g.11272943A>T	ENSP00000354558:p.Phe1103Tyr		11195530	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907797	0.92107	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.67345	-0.26	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.133205	0.53938	D	0.000049	T	0.79862	0.4519	H	0.94808	3.585	0.80722	D	1	D	0.57571	0.98	P	0.46885	0.53	D	0.86264	0.1657	10	0.66056	D	0.02	-15.3771	15.5783	0.76410	1.0:0.0:0.0:0.0	.	1103	P42345	MTOR_HUMAN	Y	1103	ENSP00000354558:F1103Y	ENSP00000354558:F1103Y	F	-	2	0	MTOR	11195530	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	8.739000	0.91574	2.081000	0.62600	0.533000	0.62120	TTT		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11272943	A	T	11272943	3	4	26	1	0	0	0	0	1	0	0	0	9954	14	1	5	4489	5	MTOR	1	11272943	Missense_Mutation	SNP	A	TCGA-04-1525-01A-01W-0615-10		11272943	237977678	1	1302											
SETDB1	9869	hgsc.bcm.edu	37	1	150916431	150916431	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr1:150916431A>G	ENST00000271640.5	+	8	1101	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SETDB1_ENST00000368963.1_Missense_Mutation_p.M237V|SETDB1_ENST00000368969.4_Missense_Mutation_p.Y304C|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Missense_Mutation_p.Y304C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	304	Tudor 1.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.Y304C(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGCTTCCTATGTCACACAG	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											204	181	189					1																	150916431		2203	4300	6503	149183055	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.911A>G	1.37:g.150916431A>G	ENSP00000271640:p.Tyr304Cys		149183055	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.504929|4.504929	0.85282|0.85282	.|.	.|.	ENSG00000143379|ENSG00000143379	ENST00000368963|ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000498193;ENST00000413562	.|T;T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94;0.94	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Tudor domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57272|0.57272	0.2042|0.2042	M|M	0.78456|0.78456	2.415|2.415	0.32013|0.32013	N|N	0.601802|0.601802	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.999;0.999	T|T	0.63804|0.63804	-0.6554|-0.6554	6|10	0.87932|0.87932	D|D	0|0	.|.	15.187|15.187	0.73009|0.73009	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|304;304;304;304;304	.|E9PRF4;E9PQM8;Q15047-2;Q15047-3;Q15047	.|.;.;.;.;SETB1_HUMAN	V|C	237|304;304;304;304;304;147	.|ENSP00000271640:Y304C;ENSP00000357958:Y304C;ENSP00000436148:Y304C;ENSP00000357965:Y304C;ENSP00000432348:Y304C	ENSP00000357959:M237V|ENSP00000271640:Y304C	M|Y	+|+	1|2	0|0	SETDB1|SETDB1	149183055|149183055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.222000|8.222000	0.89777|0.89777	2.177000|2.177000	0.69029|0.69029	0.377000|0.377000	0.23210|0.23210	ATG|TAT		0.408	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			G	150916431	A	G	150916431	3	3	26	1	0	0	0	0	1	0	0	0	14141	449	16	4	937	4	SETDB1	1	150916431	Missense_Mutation	SNP	A	TCGA-04-1525-01A-01W-0615-10	139643488	150916431	98334190	2	1303											
SCN2A	6326	hgsc.bcm.edu	37	2	166170618	166170618	+	Splice_Site	SNP	G	G	A			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr2:166170618G>A	ENST00000375437.2	+	10	1673	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	SCN2A_ENST00000283256.6_Splice_Site_p.Q461Q|SCN2A_ENST00000375427.2_Splice_Site_p.Q461Q|SCN2A_ENST00000357398.3_Splice_Site_p.Q461Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	461					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Q461Q(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGAAGCTCAGGTATAGTGAA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	2											50	48	49					2																	166170618		2202	4299	6501	165878864	SO:0001630	splice_region_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1383+1G>A	2.37:g.166170618G>A			165878864	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.398	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	Silent	A	166170618	G	A	166170618	5	1	26	1	0	0	0	0	0	0	1	0	13919	1014	35	2	1513	2	SCN2A	2	166170618	Splice_Site	SNP	G	TCGA-04-1525-01A-01W-0615-10		166170618	77028755	3	1304											
TRIM42	287015	hgsc.bcm.edu	37	3	140409814	140409814	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr3:140409814A>C	ENST00000286349.3	+	4	2056	c.1865A>C	c.(1864-1866)tAc>tCc	p.Y622S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	622	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y622S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCATAGGTTTACTGGACATGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	3											108	97	101					3																	140409814		2203	4300	6503	141892504	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1865A>C	3.37:g.140409814A>C	ENSP00000286349:p.Tyr622Ser		141892504	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839434	0.71488	.	.	ENSG00000155890	ENST00000286349	T	0.48836	0.8	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000025	T	0.54532	0.1864	N	0.24115	0.695	0.38974	D	0.958811	D	0.76494	0.999	D	0.87578	0.998	T	0.61826	-0.6983	10	0.87932	D	0	-31.4688	12.5738	0.56352	1.0:0.0:0.0:0.0	.	622	Q8IWZ5	TRI42_HUMAN	S	622	ENSP00000286349:Y622S	ENSP00000286349:Y622S	Y	+	2	0	TRIM42	141892504	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.999000	0.57031	2.222000	0.72286	0.528000	0.53228	TAC		0.408	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		C	140409814	A	C	140409814	3	2	26	1	0	0	0	0	1	0	0	0	16517	391	14	5	1879	5	TRIM42	3	140409814	Missense_Mutation	SNP	A	TCGA-04-1525-01A-01W-0615-10		140409814	57612616	4	1305											
C6orf153	88745	hgsc.bcm.edu	37	6	42993025	42993025	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr6:42993025C>G	ENST00000244496.5	+	3	313	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	101					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I101M(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						CAGCCAAGATCCGAGTACCAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	6											126	122	123					6																	42993025		2203	4300	6503	43101003	SO:0001583	missense	88745			BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.303C>G	6.37:g.42993025C>G	ENSP00000244496:p.Ile101Met		43101003	Q9BRF6|Q9P0C8	Missense_Mutation	SNP	ENST00000244496.5	37	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821678	0.32237	.	.	ENSG00000124541	ENST00000244496	T	0.42900	0.96	4.95	-1.78	0.07957	.	0.635593	0.15166	N	0.276904	T	0.11580	0.0282	L	0.31926	0.97	0.19300	N	0.999977	P	0.48089	0.905	P	0.45377	0.478	T	0.09818	-1.0657	10	0.35671	T	0.21	.	0.4839	0.00552	0.1993:0.318:0.2294:0.2532	.	101	Q96EU6	RRP36_HUMAN	M	101	ENSP00000244496:I101M	ENSP00000244496:I101M	I	+	3	3	RRP36	43101003	0.911000	0.30947	0.693000	0.30195	0.883000	0.51084	-0.161000	0.10026	-0.140000	0.11394	-0.175000	0.13238	ATC		0.493	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		G	42993025	C	G	42993025	3	3	26	1	0	0	0	0	1	0	0	0	2338	845	30	3	313	3	C6orf153	6	42993025	Missense_Mutation	SNP	C	TCGA-04-1525-01A-01W-0615-10		42993025	128122042	5	1306											
FAM200A	221786	hgsc.bcm.edu	37	7	99145624	99145624	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr7:99145624G>C	ENST00000449309.1	-	2	786	c.407C>G	c.(406-408)tCc>tGc	p.S136C		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	136						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.S136C(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						gtctataccggactgcagccg	0.388																																																1	Substitution - Missense(1)	ovary(1)	7											107	91	97					7																	99145624		1635	2943	4578	98983560	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.407C>G	7.37:g.99145624G>C	ENSP00000411372:p.Ser136Cys		98983560	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717745	0.30413	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.46451	0.87;0.87	2.58	1.69	0.24217	Ribonuclease H-like (1);	0.259817	0.25408	N	0.030896	T	0.29882	0.0747	L	0.31926	0.97	0.22185	N	0.999301	B	0.25441	0.126	B	0.32724	0.151	T	0.20940	-1.0260	10	0.49607	T	0.09	.	5.4215	0.16403	0.1609:0.0:0.8391:0.0	.	136	Q8TCP9	F200A_HUMAN	C	136	ENSP00000411372:S136C;ENSP00000386191:S136C	ENSP00000386191:S136C	S	-	2	0	FAM200A	98983560	0.571000	0.26659	0.856000	0.33681	0.985000	0.73830	1.064000	0.30579	0.644000	0.30656	0.655000	0.94253	TCC		0.388	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		C	99145624	G	C	99145624	3	2	26	1	0	0	0	0	1	0	0	0	5536	1174	41	3	1318	3	FAM200A	7	99145624	Missense_Mutation	SNP	G	TCGA-04-1525-01A-01W-0615-10		99145624	59993039	6	1307											
KIAA1429	25962	hgsc.bcm.edu	37	8	95508084	95508084	+	Silent	SNP	C	C	T			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr8:95508084C>T	ENST00000297591.5	-	19	4494	c.4419G>A	c.(4417-4419)ttG>ttA	p.L1473L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1473					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L1473L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CACTGTCCAACAAAGAATCCA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	8											107	93	97					8																	95508084		2203	4300	6503	95577260	SO:0001819	synonymous_variant	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4419G>A	8.37:g.95508084C>T			95577260	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	CCDS34923.1																																																																																				0.408	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		T	95508084	C	T	95508084	2	4	26	1	0	0	0	0	0	0	0	1	8231	477	17	2		2	KIAA1429	8	95508084	Silent	SNP	C	TCGA-04-1525-01A-01W-0615-10		95508084	50855938	7	1308											
POLR3A	11128	hgsc.bcm.edu	37	10	79777462	79777462	+	Silent	SNP	G	G	A			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr10:79777462G>A	ENST00000372371.3	-	10	1439	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	434					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.Y434Y(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTCGATTTCCGTATTTCAAAA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	10											151	139	143					10																	79777462		2203	4300	6503	79447468	SO:0001819	synonymous_variant	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1302C>T	10.37:g.79777462G>A			79447468	Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	CCDS7354.1																																																																																				0.428	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		A	79777462	G	A	79777462	2	1	26	1	0	0	0	0	0	0	0	1	12228	1140	40	1		1	POLR3A	10	79777462	Silent	SNP	G	TCGA-04-1525-01A-01W-0615-10		79777462	55757285	8	1309											
OR56A4	120793	hgsc.bcm.edu	37	11	6023870	6023870	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr11:6023870A>T	ENST00000330728.4	-	1	554	c.509T>A	c.(508-510)tTc>tAc	p.F170Y		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F170Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGACCATGAACGTGCAGGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											79	70	73					11																	6023870		2201	4296	6497	5980446	SO:0001583	missense	120793			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.509T>A	11.37:g.6023870A>T	ENSP00000328215:p.Phe170Tyr		5980446	B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645156	0.67358	.	.	ENSG00000183389	ENST00000330728	T	0.03065	4.06	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001756	T	0.12944	0.0314	M	0.63208	1.945	0.30398	N	0.780325	D	0.69078	0.997	D	0.67900	0.954	T	0.00613	-1.1644	10	0.87932	D	0	.	11.4057	0.49896	1.0:0.0:0.0:0.0	.	118	Q8NGH8	O56A4_HUMAN	Y	170	ENSP00000328215:F170Y	ENSP00000328215:F170Y	F	-	2	0	OR56A4	5980446	0.983000	0.35010	0.880000	0.34516	0.623000	0.37688	8.899000	0.92544	1.609000	0.50190	0.454000	0.30748	TTC		0.507	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		T	6023870	A	T	6023870	3	4	26	1	0	0	0	0	1	0	0	0	11135	246	9	5	590	5	OR56A4	11	6023870	Missense_Mutation	SNP	A	TCGA-04-1525-01A-01W-0615-10		6023870	128982646	9	1310											
SIPA1L1	26037	hgsc.bcm.edu	37	14	72055760	72055760	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr14:72055760G>A	ENST00000555818.1	+	2	1519	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D391N|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D391N	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	391					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.D391N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCACAGAGGACCTGAATTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	14											64	66	65					14																	72055760		2203	4300	6503	71125513	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1171G>A	14.37:g.72055760G>A	ENSP00000450832:p.Asp391Asn		71125513	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797780	0.90538	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.83335	-1.71;-1.7;-1.71	6.07	6.07	0.98685	.	0.041576	0.85682	D	0.000000	D	0.90448	0.7009	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.97	D;D;P	0.85130	0.997;0.979;0.749	D	0.90082	0.4171	10	0.87932	D	0	-35.2389	20.6593	0.99626	0.0:0.0:1.0:0.0	.	391;391;391	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	N	391	ENSP00000370630:D391N;ENSP00000450832:D391N;ENSP00000351352:D391N	ENSP00000351352:D391N	D	+	1	0	SIPA1L1	71125513	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAC		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		A	72055760	G	A	72055760	3	1	26	1	0	0	0	0	1	0	0	0	14332	1174	41	2	1173	2	SIPA1L1	14	72055760	Missense_Mutation	SNP	G	TCGA-04-1525-01A-01W-0615-10		72055760	35293780	10	1311											
CREBBP	1387	hgsc.bcm.edu	37	16	3819257	3819257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr16:3819257delG	ENST00000262367.5	-	15	3787	c.2978delC	c.(2977-2979)cctfs	p.P993fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P955fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	993					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P993fs*5(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCCAGCACAGGTACGTCAGG	0.602			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Deletion - Frameshift(1)	ovary(1)	16											116	101	106					16																	3819257		2197	4300	6497	3759258	SO:0001589	frameshift_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2978delC	16.37:g.3819257delG	ENSP00000262367:p.Pro993fs		3759258	D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	CCDS10509.1																																																																																				0.602	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		-	3819257	G	-	3819257	7	5	26	1	0	1	0	1	0	0	0	0	3861	1000	35	0	4418	0	CREBBP	16	3819257	Frame_Shift_Del	DEL	G	TCGA-04-1525-01A-01W-0615-10		3819257	86535496	11	1312											
ATP2A1	487	hgsc.bcm.edu	37	16	28913193	28913193	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr16:28913193G>T	ENST00000357084.3	+	16	2377	c.2110G>T	c.(2110-2112)Ggc>Tgc	p.G704C	ATP2A1_ENST00000395503.4_Missense_Mutation_p.G704C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G579C	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	704					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.G704C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GACAGGTGATGGCGTCAATGA	0.537																																																1	Substitution - Missense(1)	ovary(1)	16											47	40	43					16																	28913193		2197	4300	6497	28820694	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2110G>T	16.37:g.28913193G>T	ENSP00000349595:p.Gly704Cys		28820694	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994955	0.54041	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99515	-6.06;-6.06;-6.06	5.27	4.31	0.51392	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.99783	4.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96743	0.9548	10	0.87932	D	0	.	12.9867	0.58596	0.0803:0.0:0.9197:0.0	.	579;704;704	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	C	704;704;741;579	ENSP00000349595:G704C;ENSP00000378879:G704C;ENSP00000443101:G579C	ENSP00000349595:G704C	G	+	1	0	ATP2A1	28820694	1.000000	0.71417	0.709000	0.30452	0.348000	0.29142	9.761000	0.98940	1.216000	0.43427	0.561000	0.74099	GGC		0.537	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		T	28913193	G	T	28913193	3	4	26	1	0	0	0	0	1	0	0	0	1136	1348	47	3	2172	3	ATP2A1	16	28913193	Missense_Mutation	SNP	G	TCGA-04-1525-01A-01W-0615-10	25093936	28913193	61441560	12	1313											
TP53	7157	hgsc.bcm.edu	37	17	7577093	7577093	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr17:7577093C>G	ENST00000269305.4	-	8	1034	c.845G>C	c.(844-846)cGg>cCg	p.R282P	TP53_ENST00000420246.2_Missense_Mutation_p.R282P|TP53_ENST00000359597.4_Missense_Mutation_p.R282P|TP53_ENST00000455263.2_Missense_Mutation_p.R282P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282P	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282Q(27)|p.R282P(17)|p.0?(8)|p.R282fs*24(3)|p.R282L(3)|p.R282H(3)|p.?(2)|p.D281fs*63(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.D281_R282delDR(1)|p.L265_K305del41(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.R283fs*62(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CTCTGTGCGCCGGTCTCTCCC	0.557		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"	75	Substitution - Missense(50)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Unknown(2)|Complex - frameshift(2)	large_intestine(11)|upper_aerodigestive_tract(10)|haematopoietic_and_lymphoid_tissue(9)|lung(8)|bone(7)|ovary(6)|breast(4)|central_nervous_system(3)|urinary_tract(3)|oesophagus(3)|skin(3)|stomach(2)|liver(2)|vulva(1)|peritoneum(1)|prostate(1)|pancreas(1)	17	GRCh37	CM004344	TP53	M							83	71	75					17																	7577093		2203	4300	6503	7517818	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.845G>C	17.37:g.7577093C>G	ENSP00000269305:p.Arg282Pro		7517818	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279622	0.80692	.	.	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	4.99	4.99	0.66335	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	0.89968	3.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.996	D	0.96378	0.9279	10	0.87932	D	0	-12.0909	15.807	0.78520	0.0:1.0:0.0:0.0	.	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	282;282;282;282;282;271;150	ENSP00000352610:R282P;ENSP00000269305:R282P;ENSP00000398846:R282P;ENSP00000391127:R282P;ENSP00000391478:R282P;ENSP00000425104:R150P	ENSP00000269305:R282P	R	-	2	0	TP53	7517818	1.000000	0.71417	0.317000	0.25265	0.899000	0.52679	5.702000	0.68332	2.579000	0.87056	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577093	C	G	7577093	3	3	26	1	0	0	0	0	1	0	0	0	16381	652	23	3	441	3	TP53	17	7577093	Missense_Mutation	SNP	C	TCGA-04-1525-01A-01W-0615-10		7577093	73618117	13	1314											
ERBB2	2064	hgsc.bcm.edu	37	17	37881132	37881132	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr17:37881132G>T	ENST00000269571.5	+	20	2620	c.2461G>T	c.(2461-2463)Gac>Tac	p.D821Y	ERBB2_ENST00000445658.2_Missense_Mutation_p.D545Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.D791Y|ERBB2_ENST00000406381.2_Missense_Mutation_p.D791Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.D806Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.D821Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.D791Y|MIR4728_ENST00000580969.1_RNA			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.D821Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGGCTCCCAGGACCTGCTGAA	0.587		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	1	Substitution - Missense(1)	ovary(1)	17											50	50	50					17																	37881132		2203	4300	6503	35134658	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2461G>T	17.37:g.37881132G>T	ENSP00000269571:p.Asp821Tyr		35134658	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996996	0.35226	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.15	5.15	0.70609	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71921	0.3397	L	0.42008	1.315	0.80722	D	1	B;P;B	0.41624	0.18;0.757;0.273	B;B;B	0.30646	0.04;0.118;0.04	T	0.74118	-0.3768	9	0.02654	T	1	.	18.2461	0.89986	0.0:0.0:1.0:0.0	.	545;806;821	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Y	791;806;545;821;791	ENSP00000385185:D791Y;ENSP00000446466:D806Y;ENSP00000404047:D545Y;ENSP00000269571:D821Y;ENSP00000443562:D791Y	ENSP00000269571:D821Y	D	+	1	0	ERBB2	35134658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.754000	0.38369	2.397000	0.81536	0.563000	0.77884	GAC		0.587	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			T	37881132	G	T	37881132	3	4	26	1	0	0	0	0	1	0	0	0	5206	1174	41	3	2539	3	ERBB2	17	37881132	Missense_Mutation	SNP	G	TCGA-04-1525-01A-01W-0615-10	30304039	37881132	43314078	14	1315											
TBX4	9496	hgsc.bcm.edu	37	17	59560462	59560462	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr17:59560462A>G	ENST00000240335.1	+	8	1268	c.1223A>G	c.(1222-1224)gAc>gGc	p.D408G	TBX4_ENST00000589449.1_Intron|TBX4_ENST00000393853.4_Missense_Mutation_p.D409G	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	408					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D408G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCTGGGGTGGACGACCTGCCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											88	77	81					17																	59560462		2203	4300	6503	56915244	SO:0001583	missense	9496			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1223A>G	17.37:g.59560462A>G	ENSP00000240335:p.Asp408Gly		56915244	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.757903	0.49468	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.44083	0.93;0.93	5.51	5.51	0.81932	.	0.166678	0.51477	D	0.000086	T	0.40015	0.1100	L	0.47716	1.5	0.53688	D	0.999976	P;P	0.47762	0.9;0.608	B;B	0.42771	0.397;0.188	T	0.21177	-1.0253	9	.	.	.	.	14.8123	0.70006	1.0:0.0:0.0:0.0	.	409;408	A5PKU7;P57082	.;TBX4_HUMAN	G	409;408	ENSP00000377435:D409G;ENSP00000240335:D408G	.	D	+	2	0	TBX4	56915244	1.000000	0.71417	0.998000	0.56505	0.749000	0.42624	5.892000	0.69790	2.094000	0.63399	0.533000	0.62120	GAC		0.602	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		G	59560462	A	G	59560462	3	3	26	1	0	0	0	0	1	0	0	0	15660	275	10	4	1253	4	TBX4	17	59560462	Missense_Mutation	SNP	A	TCGA-04-1525-01A-01W-0615-10	21679330	59560462	21634748	15	1316											
VPS4B	9525	hgsc.bcm.edu	37	18	61067845	61067845	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr18:61067845G>C	ENST00000238497.5	-	6	779	c.576C>G	c.(574-576)aaC>aaG	p.N192K	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	192					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)	p.N192K(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						ATGTTGAGTTGTTGGCTTCTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	18											125	125	125					18																	61067845		2203	4300	6503	59218825	SO:0001583	missense	9525			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.576C>G	18.37:g.61067845G>C	ENSP00000238497:p.Asn192Lys		59218825	Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677221	0.68042	.	.	ENSG00000119541	ENST00000238497	D	0.92348	-3.02	6.11	4.34	0.51931	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89139	0.6630	N	0.11892	0.195	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.61722	0.893;0.893;0.893	D	0.85965	0.1473	10	0.25751	T	0.34	-28.0479	10.0169	0.42020	0.2036:0.0:0.7964:0.0	.	192;192;192	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	K	192	ENSP00000238497:N192K	ENSP00000238497:N192K	N	-	3	2	VPS4B	59218825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.733000	0.74796	0.921000	0.36994	0.655000	0.94253	AAC		0.368	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		C	61067845	G	C	61067845	3	2	26	1	0	0	0	0	1	0	0	0	17213	1368	48	3	782	3	VPS4B	18	61067845	Missense_Mutation	SNP	G	TCGA-04-1525-01A-01W-0615-10		61067845	17009403	16	1317											
SRC	6714	hgsc.bcm.edu	37	20	36030940	36030940	+	Missense_Mutation	SNP	G	G	C	rs186207963		TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr20:36030940G>C	ENST00000373578.2	+	12	1568	c.1219G>C	c.(1219-1221)Gac>Cac	p.D407H	SRC_ENST00000360723.4_Missense_Mutation_p.D413H|SRC_ENST00000358208.4_Missense_Mutation_p.D407H|SRC_ENST00000373567.2_Missense_Mutation_p.D407H|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373558.2_Missense_Mutation_p.D413H|SRC_ENST00000445403.1_Missense_Mutation_p.D407H	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.D407H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CAAAGTGGCGGACTTTGGGCT	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											64	57	59					20																	36030940		2203	4300	6503	35464354	SO:0001583	missense	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1219G>C	20.37:g.36030940G>C	ENSP00000362680:p.Asp407His		35464354	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	CCDS13294.1	263	0.12042124542124542	85	0.17276422764227642	28	0.07734806629834254	48	0.08391608391608392	102	0.1345646437994723	G	24.8	4.567860	0.86439	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	4.99	4.99	0.66335	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.00695	0.0023	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56080	-0.8038	10	0.87932	D	0	.	15.8235	0.78678	0.0:0.0:1.0:0.0	.	407	P12931	SRC_HUMAN	H	407;407;413;407;407;413	ENSP00000408503:D407H;ENSP00000362680:D407H;ENSP00000353950:D413H;ENSP00000350941:D407H;ENSP00000362668:D407H;ENSP00000362659:D413H	ENSP00000350941:D407H	D	+	1	0	SRC	35464354	1.000000	0.71417	0.984000	0.44739	0.788000	0.44548	9.657000	0.98554	2.586000	0.87340	0.561000	0.74099	GAC		0.622	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		C	36030940	G	C	36030940	3	2	26	1	0	0	0	0	1	0	0	0	15136	1174	41	3	1253	3	SRC	20	36030940	Missense_Mutation	SNP	G	TCGA-04-1525-01A-01W-0615-10		36030940	26994580	17	1318											
TMPRSS15	5651	hgsc.bcm.edu	37	21	19698878	19698878	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr21:19698878C>A	ENST00000284885.3	-	16	1825	c.1792G>T	c.(1792-1794)Ggg>Tgg	p.G598W		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	598	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.G598W(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGGCCAGGCCCTGTGTACACA	0.463																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	21											156	129	138					21																	19698878		2203	4300	6503	18620749	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1792G>T	21.37:g.19698878C>A	ENSP00000284885:p.Gly598Trp		18620749	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064511	0.76187	.	.	ENSG00000154646	ENST00000284885	T	0.65364	-0.15	5.27	5.27	0.74061	CUB (5);	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	H	0.98525	4.255	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.92136	0.5716	9	.	.	.	.	16.7401	0.85457	0.0:1.0:0.0:0.0	.	598	P98073	ENTK_HUMAN	W	598	ENSP00000284885:G598W	.	G	-	1	0	TMPRSS15	18620749	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	5.518000	0.67068	2.612000	0.88384	0.650000	0.86243	GGG		0.463	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19698878	C	A	19698878	3	1	26	1	0	0	0	0	1	0	0	0	16246	681	24	3	1307	3	TMPRSS15	21	19698878	Missense_Mutation	SNP	C	TCGA-04-1525-01A-01W-0615-10		19698878	28431017	18	1319											
KRTAP19-4	337971	hgsc.bcm.edu	37	21	31869270	31869270	+	Silent	SNP	G	G	A			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chr21:31869270G>A	ENST00000334058.2	-	1	181	c.159C>T	c.(157-159)tgC>tgT	p.C53C		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	53						intermediate filament (GO:0005882)		p.C53C(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCTCCATAGCATGATGGGC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	21											130	133	132					21																	31869270		2203	4300	6503	30791141	SO:0001819	synonymous_variant	337971			AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"Keratin associated proteins"	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.159C>T	21.37:g.31869270G>A			30791141	Q17RT4|Q17RT6	Silent	SNP	ENST00000334058.2	37	CCDS33534.1																																																																																				0.473	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			A	31869270	G	A	31869270	2	1	26	1	0	0	0	0	0	0	0	1	8531	963	34	2		2	KRTAP19-4	21	31869270	Silent	SNP	G	TCGA-04-1525-01A-01W-0615-10	12170392	31869270	16260625	19	1320											
NXT2	55916	hgsc.bcm.edu	37	X	108780235	108780235	+	5'UTR	SNP	G	G	T			TCGA-04-1525-01A-01W-0615-10	TCGA-04-1525-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b4639ec5-537e-4cd3-ba17-f449c911b536	f291ebc6-1f44-44b1-8f07-d00a177cc643	g.chrX:108780235G>T	ENST00000372106.1	+	0	131				NXT2_ENST00000372103.1_5'Flank|NXT2_ENST00000218004.1_Missense_Mutation_p.Q55H|NXT2_ENST00000372107.1_5'UTR	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2						mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q55H(1)		endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						CAAGGTCCCAGATGGCCACGT	0.632																																																1	Substitution - Missense(1)	ovary(1)	X											61	41	48					X																	108780235		2203	4300	6503	108666891	SO:0001623	5_prime_UTR_variant	55916			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.-1G>T	X.37:g.108780235G>T			108666891	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	ENST00000372106.1	37	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838708	0.32513	.	.	ENSG00000101888	ENST00000218004	.	.	.	4.79	-1.34	0.09143	.	0.954001	0.08669	N	0.911198	T	0.21718	0.0523	.	.	.	0.09310	N	0.999994	P	0.39696	0.683	B	0.36418	0.224	T	0.13124	-1.0521	8	0.45353	T	0.12	.	2.7845	0.05370	0.0869:0.2641:0.2396:0.4094	.	55	Q9NPJ8-3	.	H	55	.	ENSP00000218004:Q55H	Q	+	3	2	NXT2	108666891	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	-0.169000	0.09911	-0.455000	0.07054	-0.192000	0.12808	CAG		0.632	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698		T	108780235	G	T	108780235	1	4	26	0	1	0	0	0	0	0	0	0	10795	933	33	3		3	NXT2	23	108780235	5'UTR	SNP	G	TCGA-04-1525-01A-01W-0615-10		108780235	46490325	20	1321											
MORN1	79906	hgsc.bcm.edu	37	1	2317304	2317304	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:2317304C>T	ENST00000378531.3	-	5	564	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	MORN1_ENST00000378529.3_Missense_Mutation_p.V131M|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	131								p.V131M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CCCTGGTACACTTGTCCATCC	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											164	150	154					1																	2317304		2203	4300	6503	2307164	SO:0001583	missense	79906			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.391G>A	1.37:g.2317304C>T	ENSP00000367792:p.Val131Met		2307164	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	CCDS40.1	.	.	.	.	.	.	.	.	.	.	C	9.935	1.215968	0.22373	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000378525	T;T;T	0.47528	0.86;0.86;0.84	4.41	1.44	0.22558	.	1.370220	0.04834	N	0.439334	T	0.59197	0.2176	L	0.50847	1.595	0.09310	N	1	D;D;D	0.71674	0.998;0.98;0.984	D;P;P	0.68353	0.957;0.847;0.905	T	0.42447	-0.9451	10	0.30854	T	0.27	.	6.504	0.22184	0.0:0.5875:0.0:0.4125	.	107;131;131	B4DRE3;Q5T089-2;Q5T089	.;.;MORN1_HUMAN	M	131;131;107	ENSP00000367792:V131M;ENSP00000367790:V131M;ENSP00000367786:V107M	ENSP00000367786:V107M	V	-	1	0	MORN1	2307164	0.003000	0.15002	0.002000	0.10522	0.010000	0.07245	0.842000	0.27627	0.497000	0.27926	0.460000	0.39030	GTG		0.567	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		T	2317304	C	T	2317304	3	4	27	1	0	0	0	0	1	0	0	0	9708	565	20	2	1142	2	MORN1	1	2317304	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		2317304	246933317	1	1322											
ATP13A2	23400	hgsc.bcm.edu	37	1	17319010	17319010	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:17319010G>C	ENST00000326735.8	-	17	1849	c.1816C>G	c.(1816-1818)Cca>Gca	p.P606A	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P601A|ATP13A2_ENST00000452699.1_Missense_Mutation_p.P601A			Q9NQ11	AT132_HUMAN	ATPase type 13A2	606					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.P606A(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCCCAAAGTGGGGGTCTCATC	0.652																																																1	Substitution - Missense(1)	ovary(1)	1											87	90	89					1																	17319010		2203	4300	6503	17191597	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1816C>G	1.37:g.17319010G>C	ENSP00000327214:p.Pro606Ala		17191597	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899312	0.33535	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000503552	D;D;D;T	0.93307	-2.96;-3.2;-2.96;0.29	5.63	5.63	0.86233	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.211190	0.49305	D	0.000143	D	0.93341	0.7877	M	0.68593	2.085	0.47441	D	0.999421	B;P;B	0.35872	0.002;0.525;0.025	B;B;B	0.39562	0.017;0.303;0.057	D	0.93150	0.6549	10	0.56958	D	0.05	-18.6195	18.2178	0.89892	0.0:0.0:1.0:0.0	.	601;601;606	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	A	606;601;601;96	ENSP00000327214:P606A;ENSP00000341115:P601A;ENSP00000413307:P601A;ENSP00000421126:P96A	ENSP00000327214:P606A	P	-	1	0	ATP13A2	17191597	1.000000	0.71417	0.996000	0.52242	0.381000	0.30169	4.403000	0.59729	2.656000	0.90262	0.491000	0.48974	CCA		0.652	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		C	17319010	G	C	17319010	3	2	27	1	0	0	0	0	1	0	0	0	1124	1232	43	3	2014	3	ATP13A2	1	17319010	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	15001706	17319010	231931611	2	1323											
FABP3	2170	hgsc.bcm.edu	37	1	31845809	31845809	+	Missense_Mutation	SNP	T	T	A	rs534545556		TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:31845809T>A	ENST00000373713.2	-	1	114	c.53A>T	c.(52-54)gAt>gTt	p.D18V		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	18					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)	p.D18V(1)		large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		CATGTAGTCATCGAAATTCTT	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											101	86	91					1																	31845809		2203	4300	6503	31618396	SO:0001583	missense	2170			U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"Fatty acid binding protein family"	3557	protein-coding gene	gene with protein product		134651	"fatty acid binding protein 11"	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.53A>T	1.37:g.31845809T>A	ENSP00000362817:p.Asp18Val		31618396	B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	ENST00000373713.2	37	CCDS342.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784045	0.90282	.	.	ENSG00000121769	ENST00000373713	T	0.58506	0.33	4.85	4.85	0.62838	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.88377	2.95	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.82719	-0.0318	10	0.87932	D	0	.	12.7565	0.57339	0.0:0.0:0.0:1.0	.	18	P05413	FABPH_HUMAN	V	18	ENSP00000362817:D18V	ENSP00000362817:D18V	D	-	2	0	FABP3	31618396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.684000	0.84104	2.184000	0.69523	0.529000	0.55759	GAT		0.597	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		A	31845809	T	A	31845809	3	1	27	1	0	0	0	0	1	0	0	0	5358	1435	50	5	364	5	FABP3	1	31845809	Missense_Mutation	SNP	T	TCGA-04-1530-01A-02W-0552-10	14526799	31845809	217404812	3	1324											
GRIK3	2899	hgsc.bcm.edu	37	1	37271784	37271784	+	Silent	SNP	G	G	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:37271784G>A	ENST00000373091.3	-	14	2251	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	GRIK3_ENST00000373093.4_Silent_p.Y745Y	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	745					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.Y745Y(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCTGCGTGACGTACTCGATGG	0.642																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	1											195	138	157					1																	37271784		2203	4300	6503	37044371	SO:0001819	synonymous_variant	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2235C>T	1.37:g.37271784G>A			37044371	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	CCDS416.1																																																																																				0.642	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		A	37271784	G	A	37271784	2	1	27	1	0	0	0	0	0	0	0	1	6775	1140	40	1		1	GRIK3	1	37271784	Silent	SNP	G	TCGA-04-1530-01A-02W-0552-10	5425975	37271784	211978837	4	1325											
ZMYND12	84217	hgsc.bcm.edu	37	1	42921578	42921578	+	Frame_Shift_Del	DEL	A	A	-			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:42921578delA	ENST00000372565.3	-	1	360	c.91delT	c.(91-93)tgcfs	p.C31fs	PPCS_ENST00000372556.3_5'Flank|PPCS_ENST00000455780.1_5'Flank|ZMYND12_ENST00000433602.2_5'UTR|PPCS_ENST00000372560.3_5'Flank|PPCS_ENST00000372562.1_5'Flank|PPCS_ENST00000372561.3_5'Flank	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	31						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.C31fs*27(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGACTGTGCAGGCCGCGCAC	0.617																																																1	Deletion - Frameshift(1)	ovary(1)	1											41	42	42					1																	42921578		2203	4300	6503	42694165	SO:0001589	frameshift_variant	84217			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.91delT	1.37:g.42921578delA	ENSP00000361646:p.Cys31fs		42694165	Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Del	DEL	ENST00000372565.3	37	CCDS467.1																																																																																				0.617	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		-	42921578	A	-	42921578	7	5	27	1	0	1	0	1	0	0	0	0	17707	188	7	0	1038	0	ZMYND12	1	42921578	Frame_Shift_Del	DEL	A	TCGA-04-1530-01A-02W-0552-10	5649794	42921578	206329043	5	1326											
OLFM3	118427	hgsc.bcm.edu	37	1	102302461	102302461	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:102302461T>A	ENST00000338858.5	-	2	249	c.250A>T	c.(250-252)Agg>Tgg	p.R84W	OLFM3_ENST00000370103.4_Missense_Mutation_p.R64W|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.R84W			Q96PB7	NOE3_HUMAN	olfactomedin 3	84					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.R64W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CGAAGTTGCCTGCTTTTGGCA	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											127	118	121					1																	102302461		2203	4300	6503	102075049	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.250A>T	1.37:g.102302461T>A	ENSP00000345192:p.Arg84Trp		102075049	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	T	22.4	4.280792	0.80692	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000359814	D;D;T	0.90261	-2.64;-2.64;0.7	5.62	3.25	0.37280	.	0.163884	0.50627	D	0.000117	D	0.90872	0.7132	L	0.55481	1.735	0.80722	D	1	D;D	0.59767	0.986;0.975	D;P	0.67103	0.949;0.817	D	0.90823	0.4710	10	0.72032	D	0.01	.	12.3364	0.55069	0.0:0.0:0.2677:0.7323	.	64;84	Q5T3V6;Q96PB7	.;NOE3_HUMAN	W	64;84;84	ENSP00000359121:R64W;ENSP00000345192:R84W;ENSP00000352867:R84W	ENSP00000345192:R84W	R	-	1	2	OLFM3	102075049	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.781000	0.47750	0.384000	0.24942	0.477000	0.44152	AGG		0.483	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			A	102302461	T	A	102302461	3	1	27	1	0	0	0	0	1	0	0	0	10854	1579	55	5	1206	5	OLFM3	1	102302461	Missense_Mutation	SNP	T	TCGA-04-1530-01A-02W-0552-10	59380883	102302461	146948160	6	1327											
SORT1	6272	hgsc.bcm.edu	37	1	109857366	109857366	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:109857366G>C	ENST00000256637.6	-	18	2343	c.2285C>G	c.(2284-2286)gCc>gGc	p.A762G	SORT1_ENST00000538502.1_Missense_Mutation_p.A625G	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	762					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.A762G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCCCACGATGGCCAGGATAAT	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											103	95	98					1																	109857366		2203	4300	6503	109658889	SO:0001583	missense	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.2285C>G	1.37:g.109857366G>C	ENSP00000256637:p.Ala762Gly		109658889	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505824	0.44558	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.16196	2.36;2.39	5.63	5.63	0.86233	.	0.326103	0.33691	N	0.004644	T	0.04861	0.0131	N	0.08118	0	0.37313	D	0.909213	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.31024	-0.9958	10	0.29301	T	0.29	-18.5992	18.452	0.90707	0.0:0.0:1.0:0.0	.	625;762	B4DWI3;Q99523	.;SORT_HUMAN	G	762;625	ENSP00000256637:A762G;ENSP00000438597:A625G	ENSP00000256637:A762G	A	-	2	0	SORT1	109658889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.198000	0.65147	2.670000	0.90874	0.655000	0.94253	GCC		0.428	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		C	109857366	G	C	109857366	3	2	27	1	0	0	0	0	1	0	0	0	14938	1203	42	3	222	3	SORT1	1	109857366	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	7554905	109857366	139393255	7	1328											
SLC25A44	9673	hgsc.bcm.edu	37	1	156177778	156177778	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:156177778A>T	ENST00000359511.4	+	3	899	c.727A>T	c.(727-729)Atg>Ttg	p.M243L	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.M220L	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	243					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.M243L(1)		breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CACCAATCCCATGGATGTCAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											104	88	93					1																	156177778		2203	4300	6503	154444402	SO:0001583	missense	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.727A>T	1.37:g.156177778A>T	ENSP00000352497:p.Met243Leu		154444402	O75034	Missense_Mutation	SNP	ENST00000359511.4	37	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	A	9.064	0.995316	0.19043	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	T;T	0.74002	-0.8;-0.8	4.89	4.89	0.63831	Mitochondrial carrier domain (2);	0.088632	0.85682	D	0.000000	T	0.27063	0.0663	N	0.01751	-0.74	0.80722	D	1	B;B;B	0.19445	0.017;0.036;0.036	B;B;B	0.29663	0.006;0.105;0.071	T	0.38023	-0.9680	10	0.02654	T	1	1.8056	12.5436	0.56186	1.0:0.0:0.0:0.0	.	220;220;243	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	L	243;220	ENSP00000352497:M243L;ENSP00000407560:M220L	ENSP00000352497:M243L	M	+	1	0	SLC25A44	154444402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.881000	0.92415	2.053000	0.61076	0.519000	0.50382	ATG		0.562	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		T	156177778	A	T	156177778	3	4	27	1	0	0	0	0	1	0	0	0	14512	217	8	5	733	5	SLC25A44	1	156177778	Missense_Mutation	SNP	A	TCGA-04-1530-01A-02W-0552-10	46320412	156177778	93072843	8	1329											
TIPRL	261726	hgsc.bcm.edu	37	1	168160704	168160704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:168160704delA	ENST00000367833.2	+	4	627	c.482delA	c.(481-483)catfs	p.H161fs	TIPRL_ENST00000367830.3_Frame_Shift_Del_p.H161fs	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	161					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.H161fs*8(1)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GATGAACTTCATGATCATGGA	0.303																																																1	Deletion - Frameshift(1)	ovary(1)	1											62	70	67					1																	168160704		2203	4300	6503	166427328	SO:0001589	frameshift_variant	261726			AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.482delA	1.37:g.168160704delA	ENSP00000356807:p.His161fs		166427328	B2R8V3|Q5HYB2|Q8IZ86	Frame_Shift_Del	DEL	ENST00000367833.2	37	CCDS1270.1																																																																																				0.303	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902		-	168160704	A	-	168160704	7	5	27	1	0	1	0	1	0	0	0	0	15926	217	8	0	496	0	TIPRL	1	168160704	Frame_Shift_Del	DEL	A	TCGA-04-1530-01A-02W-0552-10	11982926	168160704	81089917	9	1330											
NAV1	89796	hgsc.bcm.edu	37	1	201779701	201779701	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:201779701A>G	ENST00000367296.4	+	24	5032	c.4612A>G	c.(4612-4614)Aag>Gag	p.K1538E	MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.K1478E|NAV1_ENST00000295624.6_Missense_Mutation_p.K1535E|NAV1_ENST00000367297.4_Missense_Mutation_p.K1530E|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.K1491E|NAV1_ENST00000367295.1_Missense_Mutation_p.K1144E	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1538					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.K1535E(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCTGATCCCCAAGCCGATGAT	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											43	39	41					1																	201779701		2203	4300	6503	200046324	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4612A>G	1.37:g.201779701A>G	ENSP00000356265:p.Lys1538Glu		200046324	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	29.3	4.997693	0.93227	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	4.85	4.85	0.62838	.	0.055379	0.64402	D	0.000001	D	0.89399	0.6704	M	0.78049	2.395	0.58432	D	0.999996	D;D	0.55385	0.971;0.971	P;P	0.48270	0.453;0.572	D	0.91112	0.4923	10	0.87932	D	0	-25.8572	14.2681	0.66135	1.0:0.0:0.0:0.0	.	1144;1535	Q8NEY1-5;Q8NEY1-3	.;.	E	1491;1538;1535;1530;1478;1144	ENSP00000356271:K1491E;ENSP00000356265:K1538E;ENSP00000295624:K1535E;ENSP00000356266:K1530E;ENSP00000356269:K1478E;ENSP00000356264:K1144E	ENSP00000295624:K1535E	K	+	1	0	NAV1	200046324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.064000	0.93933	2.025000	0.59659	0.477000	0.44152	AAG		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		G	201779701	A	G	201779701	3	3	27	1	0	0	0	0	1	0	0	0	10183	131	5	4	4763	4	NAV1	1	201779701	Missense_Mutation	SNP	A	TCGA-04-1530-01A-02W-0552-10	33618997	201779701	47470920	10	1331											
ARL8A	127829	hgsc.bcm.edu	37	1	202104655	202104655	+	Splice_Site	SNP	C	C	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:202104655C>A	ENST00000272217.2	-	5	541		c.e5-1		ARL8A_ENST00000486225.1_5'UTR	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A						chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|mitotic nuclear division (GO:0007067)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.?(1)		large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GGACTAAGACCTACGGAGAAG	0.557											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Unknown(1)	ovary(1)	1											115	116	116					1																	202104655		2203	4300	6503	200371278	SO:0001630	splice_region_variant	127829			BC015408	CCDS1421.1, CCDS73004.1	1q32.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000143862	ENSG00000143862		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25192	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10B"	ARL10B		8889548	Standard	NM_001256129		Approved	FLJ45195, Gie2	uc001gxk.2	Q96BM9	OTTHUMG00000035923	ENST00000272217.2:c.373-1G>T	1.37:g.202104655C>A		2126	200371278	B3KXD0	Splice_Site	SNP	ENST00000272217.2	37	CCDS1421.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368069	0.61513	.	.	ENSG00000143862	ENST00000272217	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4214	0.90591	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARL8A	200371278	1.000000	0.71417	0.993000	0.49108	0.570000	0.35934	7.606000	0.82863	2.334000	0.79466	0.305000	0.20034	.		0.557	ARL8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087493.1	NM_138795	Intron	A	202104655	C	A	202104655	5	1	27	1	0	0	0	0	0	0	1	0	946	695	24	3	200	3	ARL8A	1	202104655	Splice_Site	SNP	C	TCGA-04-1530-01A-02W-0552-10	324954	202104655	47145966	11	1332											
PARP1	142	hgsc.bcm.edu	37	1	226564905	226564905	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr1:226564905C>T	ENST00000366794.5	-	13	1988	c.1845G>A	c.(1843-1845)atG>atA	p.M615I		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	615					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.M615I(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CATATAATTTCATGAAGTGCT	0.473								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								1	Substitution - Missense(1)	ovary(1)	1											212	224	220					1																	226564905		2203	4300	6503	224631528	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1845G>A	1.37:g.226564905C>T	ENSP00000355759:p.Met615Ile		224631528	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565679	0.27915	.	.	ENSG00000143799	ENST00000366794	T	0.15718	2.4	5.31	3.33	0.38152	WGR domain (4);	0.252983	0.47455	D	0.000238	T	0.09069	0.0224	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19353	-1.0308	10	0.21540	T	0.41	.	4.628	0.12488	0.1235:0.6149:0.1202:0.1414	.	615	P09874	PARP1_HUMAN	I	615	ENSP00000355759:M615I	ENSP00000355759:M615I	M	-	3	0	PARP1	224631528	0.970000	0.33590	1.000000	0.80357	0.992000	0.81027	0.128000	0.15810	1.380000	0.46344	0.650000	0.86243	ATG		0.473	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		T	226564905	C	T	226564905	3	4	27	1	0	0	0	0	1	0	0	0	11454	826	29	2	1243	2	PARP1	1	226564905	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10	24460250	226564905	22685716	12	1333											
C2orf18	54978	hgsc.bcm.edu	37	2	26999335	26999335	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr2:26999335G>T	ENST00000344420.5	+	5	693	c.631G>T	c.(631-633)Gca>Tca	p.A211S	SLC35F6_ENST00000482746.1_Intron|CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.A128S	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	211					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.A211S(1)									CCCACTGCGGGCAGTTGGCAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	2											97	78	85					2																	26999335		2203	4300	6503	26852839	SO:0001583	missense	54978			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"ANT2-binding protein", "transport and golgi organization 9 homolog (Drosophila)"		"chromosome 2 open reading frame 18"	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.631G>T	2.37:g.26999335G>T	ENSP00000345528:p.Ala211Ser		26852839	D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226020	0.79576	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.85221	0.5647	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	D	0.87339	0.2330	9	0.46703	T	0.11	.	17.1547	0.86788	0.0:0.0:1.0:0.0	.	128;211	B4DLH2;Q8N357	.;CB018_HUMAN	S	211;128	.	ENSP00000345528:A211S	A	+	1	0	C2orf18	26852839	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	8.830000	0.92063	2.395000	0.81488	0.561000	0.74099	GCA		0.582	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		T	26999335	G	T	26999335	3	4	27	1	0	0	0	0	1	0	0	0	2158	1203	42	3	649	3	C2orf18	2	26999335	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10		26999335	216200038	13	1334											
WDR75	84128	hgsc.bcm.edu	37	2	190340030	190340030	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr2:190340030G>C	ENST00000314761.4	+	21	2440	c.2380G>C	c.(2380-2382)Gat>Cat	p.D794H		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	794						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D794H(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAAGTCCAGGATACAAGTAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	2											59	61	60					2																	190340030		2203	4300	6503	190048275	SO:0001583	missense	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2380G>C	2.37:g.190340030G>C	ENSP00000314193:p.Asp794His		190048275	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	G	8.613	0.889529	0.17540	.	.	ENSG00000115368	ENST00000314761	T	0.61627	0.09	5.01	2.22	0.28083	.	0.421858	0.24891	N	0.034763	T	0.39860	0.1094	L	0.40543	1.245	0.09310	N	1	P;B	0.38642	0.641;0.343	B;B	0.32289	0.143;0.125	T	0.25433	-1.0132	10	0.44086	T	0.13	-2.3289	6.424	0.21760	0.2172:0.1386:0.6442:0.0	.	794;794	A8K330;Q8IWA0	.;WDR75_HUMAN	H	794	ENSP00000314193:D794H	ENSP00000314193:D794H	D	+	1	0	WDR75	190048275	0.883000	0.30277	0.003000	0.11579	0.578000	0.36192	1.220000	0.32491	0.808000	0.34231	0.591000	0.81541	GAT		0.323	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		C	190340030	G	C	190340030	3	2	27	1	0	0	0	0	1	0	0	0	17325	1174	41	3	2462	3	WDR75	2	190340030	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	163340695	190340030	52859343	14	1335											
GTF3C3	9330	hgsc.bcm.edu	37	2	197639868	197639868	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr2:197639868G>C	ENST00000263956.3	-	13	1892	c.1803C>G	c.(1801-1803)gaC>gaG	p.D601E		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	601					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.D601E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGACTCTTGGTCATTGCTGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											120	111	114					2																	197639868		2203	4300	6503	197348113	SO:0001583	missense	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1803C>G	2.37:g.197639868G>C	ENSP00000263956:p.Asp601Glu		197348113	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059369	0.36373	.	.	ENSG00000119041	ENST00000263956;ENST00000435252	T	0.44881	0.91	5.2	2.37	0.29283	.	0.175991	0.49305	N	0.000157	T	0.20455	0.0492	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17715	-1.0360	10	0.02654	T	1	-14.2552	7.6705	0.28455	0.1418:0.2631:0.5952:0.0	.	601	Q9Y5Q9	TF3C3_HUMAN	E	601;124	ENSP00000263956:D601E	ENSP00000263956:D601E	D	-	3	2	GTF3C3	197348113	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	0.938000	0.28965	0.322000	0.23283	-0.176000	0.13171	GAC		0.348	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			C	197639868	G	C	197639868	3	2	27	1	0	0	0	0	1	0	0	0	6874	1252	44	3	881	3	GTF3C3	2	197639868	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	7299838	197639868	45559505	15	1336											
SMARCAL1	50485	hgsc.bcm.edu	37	2	217280023	217280023	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr2:217280023C>G	ENST00000357276.4	+	3	926	c.596C>G	c.(595-597)cCt>cGt	p.P199R	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.P199R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	199					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.P199R(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AAAGCCTCCCCTTCGGGGCAG	0.522									Schimke Immuno-Osseous Dysplasia																																							1	Substitution - Missense(1)	ovary(1)	2											75	75	75					2																	217280023		2203	4300	6503	216988268	SO:0001583	missense	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.596C>G	2.37:g.217280023C>G	ENSP00000349823:p.Pro199Arg		216988268	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733407	0.30684	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	D;D;T;D	0.85411	-1.93;-1.93;1.58;-1.98	5.44	4.54	0.55810	.	0.625395	0.16340	N	0.218711	T	0.69797	0.3151	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56080	-0.8038	10	0.33141	T	0.24	-4.5175	10.3516	0.43939	0.0:0.9096:0.0:0.0904	.	199	Q9NZC9	SMAL1_HUMAN	R	199;199;98;63	ENSP00000349823:P199R;ENSP00000350940:P199R;ENSP00000392997:P98R;ENSP00000375974:P63R	ENSP00000349823:P199R	P	+	2	0	SMARCAL1	216988268	0.083000	0.21467	0.008000	0.14137	0.001000	0.01503	2.311000	0.43717	2.832000	0.97577	0.655000	0.94253	CCT		0.522	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			G	217280023	C	G	217280023	3	3	27	1	0	0	0	0	1	0	0	0	14776	681	24	3	598	3	SMARCAL1	2	217280023	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10	19640155	217280023	25919350	16	1337											
UQCRC1	7384	hgsc.bcm.edu	37	3	48638211	48638211	+	Silent	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr3:48638211G>C	ENST00000203407.5	-	9	1445	c.1029C>G	c.(1027-1029)acC>acG	p.T343T		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	343					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.T343T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGATGCTGAAGGTCTGGAAAC	0.557																																					NSCLC(81;1112 1427 27031 32409 45529)											1	Substitution - coding silent(1)	ovary(1)	3											82	76	78					3																	48638211		2203	4300	6503	48613215	SO:0001819	synonymous_variant	7384			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1029C>G	3.37:g.48638211G>C			48613215	B2R7R8|Q96DD2	Silent	SNP	ENST00000203407.5	37	CCDS2774.1																																																																																				0.557	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		C	48638211	G	C	48638211	2	2	27	1	0	0	0	0	0	0	0	1	17019	987	35	3		3	UQCRC1	3	48638211	Silent	SNP	G	TCGA-04-1530-01A-02W-0552-10		48638211	149384219	17	1338											
KIAA2018	205717	hgsc.bcm.edu	37	3	113377826	113377826	+	Silent	SNP	A	A	G			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr3:113377826A>G	ENST00000478658.1	-	5	2720	c.2703T>C	c.(2701-2703)caT>caC	p.H901H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.H901H			Q68DE3	K2018_HUMAN	KIAA2018	901						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.H901H(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCATTGCAAAATGTTCACTTG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	3											168	154	158					3																	113377826		1873	4106	5979	114860516	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2703T>C	3.37:g.113377826A>G			114860516	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																				0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		G	113377826	A	G	113377826	2	3	27	1	0	0	0	0	0	0	0	1	8268	98	4	4		4	KIAA2018	3	113377826	Silent	SNP	A	TCGA-04-1530-01A-02W-0552-10	64739615	113377826	84644604	18	1339											
ZDHHC23	254887	hgsc.bcm.edu	37	3	113672987	113672987	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr3:113672987G>T	ENST00000330212.3	+	3	901	c.602G>T	c.(601-603)gGt>gTt	p.G201V	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G195V	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	201					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.G201V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CCAGCAAGCGGTGACAGATCT	0.552																																																1	Substitution - Missense(1)	ovary(1)	3											107	113	111					3																	113672987		2203	4300	6503	115155677	SO:0001583	missense	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.602G>T	3.37:g.113672987G>T	ENSP00000330485:p.Gly201Val		115155677	D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	1.062	-0.672714	0.03403	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.43294	0.95;0.95	5.26	-4.78	0.03209	.	2.047310	0.01699	N	0.027111	T	0.17916	0.0430	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.09037	-1.0693	10	0.26408	T	0.33	2.4072	4.0555	0.09814	0.2265:0.2194:0.4464:0.1078	.	201	Q8IYP9	ZDH23_HUMAN	V	201;195	ENSP00000330485:G201V;ENSP00000417840:G195V	ENSP00000330485:G201V	G	+	2	0	ZDHHC23	115155677	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.094000	0.11094	-1.054000	0.03214	0.561000	0.74099	GGT		0.552	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		T	113672987	G	T	113672987	3	4	27	1	0	0	0	0	1	0	0	0	17614	1261	44	3	608	3	ZDHHC23	3	113672987	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	295161	113672987	84349443	19	1340											
TMEM39A	55254	hgsc.bcm.edu	37	3	119151002	119151002	+	Silent	SNP	G	G	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr3:119151002G>A	ENST00000319172.5	-	9	1713	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	431						integral component of membrane (GO:0016021)		p.V431V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GATAGAAGACGACACTGCCCT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	3											73	67	69					3																	119151002		2203	4300	6503	120633692	SO:0001819	synonymous_variant	55254			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1293C>T	3.37:g.119151002G>A			120633692	D3DN80|Q53FN4|Q53GI1|Q6PKB5	Silent	SNP	ENST00000319172.5	37	CCDS2987.1																																																																																				0.383	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		A	119151002	G	A	119151002	2	1	27	1	0	0	0	0	0	0	0	1	16161	1045	37	1		1	TMEM39A	3	119151002	Silent	SNP	G	TCGA-04-1530-01A-02W-0552-10	5478015	119151002	78871428	20	1341											
TFRC	7037	hgsc.bcm.edu	37	3	195782162	195782162	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr3:195782162T>C	ENST00000360110.4	-	17	1857	c.1688A>G	c.(1687-1689)tAt>tGt	p.Y563C	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.Y563C|TFRC_ENST00000420415.1_Missense_Mutation_p.Y482C|TFRC_ENST00000535031.1_Missense_Mutation_p.Y281C|TFRC_ENST00000465288.1_5'Flank	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	563					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.Y563C(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CAAATAAGGATAATCTGTGTC	0.502			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	1	Substitution - Missense(1)	ovary(1)	3											87	79	82					3																	195782162		2203	4300	6503	197266559	SO:0001583	missense	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1688A>G	3.37:g.195782162T>C	ENSP00000353224:p.Tyr563Cys		197266559	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594533	0.46214	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.74002	1.0;1.0;1.0;-0.8	5.34	5.34	0.76211	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91178	0.4974	10	0.59425	D	0.04	-19.5216	14.4823	0.67592	0.0:0.0:0.0:1.0	.	563	P02786	TFR1_HUMAN	C	563;482;563;281	ENSP00000353224:Y563C;ENSP00000390133:Y482C;ENSP00000376197:Y563C;ENSP00000437753:Y281C	ENSP00000353224:Y563C	Y	-	2	0	TFRC	197266559	1.000000	0.71417	0.424000	0.26647	0.212000	0.24457	5.993000	0.70616	2.014000	0.59158	0.260000	0.18958	TAT		0.502	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			C	195782162	T	C	195782162	3	2	27	1	0	0	0	0	1	0	0	0	15812	1406	49	4	606	4	TFRC	3	195782162	Missense_Mutation	SNP	T	TCGA-04-1530-01A-02W-0552-10	76631160	195782162	2240268	21	1342											
ANKRD17	26057	hgsc.bcm.edu	37	4	73951137	73951137	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr4:73951137C>T	ENST00000358602.4	-	30	7104	c.6988G>A	c.(6988-6990)Ggt>Agt	p.G2330S	ANKRD17_ENST00000330838.6_Missense_Mutation_p.G2079S|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G2217S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2330					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G2330S(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTACAGAACCATATGGCGAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	4											81	81	81					4																	73951137		2203	4300	6503	74170001	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6988G>A	4.37:g.73951137C>T	ENSP00000351416:p.Gly2330Ser		74170001	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	9.000	0.979793	0.18812	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.64438	-0.02;0.02;-0.1	5.81	4.97	0.65823	.	0.169262	0.40554	N	0.001062	T	0.37758	0.1015	N	0.08118	0	0.25861	N	0.983825	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.001;0.0	T	0.15235	-1.0444	10	0.10902	T	0.67	.	11.2501	0.49020	0.0:0.8604:0.0:0.1396	.	2329;2079;2330;2217	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	S	2330;1737;2079;2217;714	ENSP00000351416:G2330S;ENSP00000332265:G2079S;ENSP00000427151:G2217S	ENSP00000332265:G2079S	G	-	1	0	ANKRD17	74170001	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.741000	0.47426	1.605000	0.50152	-0.136000	0.14681	GGT		0.403	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	73951137	C	T	73951137	3	4	27	1	0	0	0	0	1	0	0	0	646	594	21	2	843	2	ANKRD17	4	73951137	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		73951137	117203139	22	1343											
MEF2C	4208	hgsc.bcm.edu	37	5	88018549	88018549	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr5:88018549C>A	ENST00000437473.2	-	11	1711	c.1294G>T	c.(1294-1296)Gac>Tac	p.D432Y	MEF2C_ENST00000508569.1_Missense_Mutation_p.D392Y|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000514015.1_Missense_Mutation_p.D400Y|MEF2C_ENST00000424173.2_Missense_Mutation_p.D422Y|MEF2C_ENST00000539796.1_Missense_Mutation_p.D376Y|MEF2C_ENST00000510942.1_Missense_Mutation_p.D424Y|MEF2C_ENST00000514028.1_Missense_Mutation_p.D432Y|MEF2C_ENST00000504921.2_Missense_Mutation_p.D432Y|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000340208.5_Missense_Mutation_p.D442Y	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	432		Cleavage. {ECO:0000305}.			apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D432Y(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCGCTCCCGTCGTACGAACTG	0.587										HNSCC(66;0.2)																																						1	Substitution - Missense(1)	ovary(1)	5											130	136	134					5																	88018549		2032	4197	6229	88054305	SO:0001583	missense	4208			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1294G>T	5.37:g.88018549C>A	ENSP00000396219:p.Asp432Tyr		88054305	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537076	0.65085	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T	0.71103	-0.01;0.01;-0.02;0.02;0.02;0.01;-0.44;-0.54;0.46	5.69	5.69	0.88448	.	0.043855	0.85682	D	0.000000	T	0.79845	0.4516	L	0.42245	1.32	0.58432	D	0.999999	B;D;D;D	0.69078	0.047;0.997;0.995;0.997	B;D;P;D	0.65010	0.116;0.931;0.813;0.921	T	0.80529	-0.1342	10	0.87932	D	0	-8.4576	19.7914	0.96458	0.0:1.0:0.0:0.0	.	422;442;432;424	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	Y	442;422;432;432;432;424;392;400;376	ENSP00000340874:D442Y;ENSP00000389610:D422Y;ENSP00000421925:D432Y;ENSP00000426665:D432Y;ENSP00000396219:D432Y;ENSP00000422390:D424Y;ENSP00000423597:D392Y;ENSP00000424606:D400Y;ENSP00000441153:D376Y	ENSP00000340874:D442Y	D	-	1	0	MEF2C	88054305	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.840000	0.97914	0.655000	0.94253	GAC		0.587	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		A	88018549	C	A	88018549	3	1	27	1	0	0	0	0	1	0	0	0	9457	884	31	3	131	3	MEF2C	5	88018549	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		88018549	92896711	23	1344											
DNAH8	1769	hgsc.bcm.edu	37	6	38851758	38851758	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr6:38851758A>T	ENST00000359357.3	+	54	7846	c.7592A>T	c.(7591-7593)aAt>aTt	p.N2531I	DNAH8_ENST00000441566.1_Missense_Mutation_p.N2495I|DNAH8_ENST00000449981.2_Missense_Mutation_p.N2748I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2531	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N2531I(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGTGATTAATGAGTGGGGA	0.318																																																1	Substitution - Missense(1)	ovary(1)	6											99	102	101					6																	38851758		2203	4300	6503	38959736	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7592A>T	6.37:g.38851758A>T	ENSP00000352312:p.Asn2531Ile		38959736	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	22.8	4.337733	0.81911	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.17528	2.27;2.27;2.27	5.07	5.07	0.68467	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65533	-0.6145	10	0.87932	D	0	.	15.1103	0.72351	1.0:0.0:0.0:0.0	.	2531	Q96JB1	DYH8_HUMAN	I	2736;2736;2531;2495	ENSP00000333363:N2736I;ENSP00000352312:N2531I;ENSP00000402294:N2495I	ENSP00000333363:N2736I	N	+	2	0	DNAH8	38959736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.277000	0.95755	2.030000	0.59900	0.454000	0.30748	AAT		0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38851758	A	T	38851758	3	4	27	1	0	0	0	0	1	0	0	0	4607	101	4	5	7798	5	DNAH8	6	38851758	Missense_Mutation	SNP	A	TCGA-04-1530-01A-02W-0552-10		38851758	132263309	24	1345											
ZNF292	23036	hgsc.bcm.edu	37	6	87968048	87968048	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr6:87968048G>T	ENST00000369577.3	+	8	4744	c.4701G>T	c.(4699-4701)ttG>ttT	p.L1567F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1562F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1567						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L1422F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTAGCAGCTTGCCTGTTTTTC	0.433																																																1	Substitution - Missense(1)	ovary(1)	6											77	75	75					6																	87968048		1961	4150	6111	88024767	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4701G>T	6.37:g.87968048G>T	ENSP00000358590:p.Leu1567Phe		88024767	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	6.673	0.492773	0.12702	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.10477	2.87;2.88	6.07	3.33	0.38152	.	0.209202	0.30714	N	0.009035	T	0.02380	0.0073	N	0.24115	0.695	0.34375	D	0.692506	B	0.20887	0.049	B	0.19666	0.026	T	0.33214	-0.9877	10	0.44086	T	0.13	.	5.9805	0.19405	0.3164:0.0:0.5646:0.119	.	1567	O60281	ZN292_HUMAN	F	1567;1562	ENSP00000358590:L1567F;ENSP00000342847:L1562F	ENSP00000342847:L1562F	L	+	3	2	ZNF292	88024767	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	0.955000	0.29188	0.905000	0.36596	0.655000	0.94253	TTG		0.433	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		T	87968048	G	T	87968048	3	4	27	1	0	0	0	0	1	0	0	0	17826	1310	46	3	4731	3	ZNF292	6	87968048	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	49116290	87968048	83147019	25	1346											
MLL5	55904	hgsc.bcm.edu	37	7	104752614	104752614	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr7:104752614T>A	ENST00000311117.3	+	27	4956	c.4411T>A	c.(4411-4413)Tca>Aca	p.S1471T	KMT2E_ENST00000334914.7_Missense_Mutation_p.S526T|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1471T|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.S1429T	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1471	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S1471T(1)									AAAGCCTCCTTCACAGCAGTT	0.483																																																1	Substitution - Missense(1)	ovary(1)	7											123	113	116					7																	104752614		2203	4300	6503	104539850	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4411T>A	7.37:g.104752614T>A	ENSP00000312379:p.Ser1471Thr		104539850	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153201	0.38021	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.93019	-3.15;-3.02;-3.15;0.59	4.16	-5.04	0.02964	.	0.742253	0.11527	N	0.555092	D	0.83096	0.5180	N	0.17082	0.46	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.60167	-0.7316	10	0.41790	T	0.15	.	7.0473	0.25052	0.2313:0.0:0.3525:0.4162	.	1391;1471	F8W6H1;Q8IZD2	.;MLL5_HUMAN	T	1471;1471;1429;1391;1471;526	ENSP00000312379:S1471T;ENSP00000335599:S1429T;ENSP00000257745:S1471T;ENSP00000333986:S526T	ENSP00000257745:S1471T	S	+	1	0	MLL5	104539850	0.583000	0.26757	0.927000	0.36925	0.999000	0.98932	0.320000	0.19540	-0.589000	0.05874	0.528000	0.53228	TCA		0.483	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			A	104752614	T	A	104752614	3	1	27	1	0	0	0	0	1	0	0	0	9624	1783	62	5	4509	5	MLL5	7	104752614	Missense_Mutation	SNP	T	TCGA-04-1530-01A-02W-0552-10		104752614	54386049	26	1347											
SLC26A7	115111	hgsc.bcm.edu	37	8	92355655	92355655	+	Silent	SNP	A	A	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr8:92355655A>T	ENST00000276609.3	+	9	1340	c.1101A>T	c.(1099-1101)ggA>ggT	p.G367G	SLC26A7_ENST00000523719.1_Silent_p.G367G|SLC26A7_ENST00000309536.2_Silent_p.G367G|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.G367G(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTGCCATGGGAAGGACGGCTG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	8											82	79	80					8																	92355655		2203	4300	6503	92424831	SO:0001819	synonymous_variant	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1101A>T	8.37:g.92355655A>T			92424831		Silent	SNP	ENST00000276609.3	37	CCDS6254.1																																																																																				0.478	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			T	92355655	A	T	92355655	2	4	27	1	0	0	0	0	0	0	0	1	14525	233	9	5		5	SLC26A7	8	92355655	Silent	SNP	A	TCGA-04-1530-01A-02W-0552-10		92355655	54008367	27	1348											
COL14A1	7373	hgsc.bcm.edu	37	8	121259876	121259876	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr8:121259876T>C	ENST00000297848.3	+	21	2774	c.2504T>C	c.(2503-2505)tTg>tCg	p.L835S	COL14A1_ENST00000309791.4_Missense_Mutation_p.L835S|COL14A1_ENST00000247781.3_Missense_Mutation_p.L740S|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.L835S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCCCAGAACTTGCGGGTGTCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	8											70	63	66					8																	121259876		2203	4300	6503	121329057	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2504T>C	8.37:g.121259876T>C	ENSP00000297848:p.Leu835Ser		121329057		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.317235	0.60524	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.155057	0.43110	D	0.000614	T	0.81202	0.4773	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74023	0.932;0.982	D	0.83744	0.0205	10	0.51188	T	0.08	.	15.7793	0.78246	0.0:0.0:0.0:1.0	.	835;835	Q05707-2;Q05707	.;COEA1_HUMAN	S	835;835;740;648	ENSP00000311809:L835S;ENSP00000297848:L835S;ENSP00000247781:L740S;ENSP00000409461:L648S	ENSP00000247781:L740S	L	+	2	0	COL14A1	121329057	1.000000	0.71417	0.168000	0.22838	0.372000	0.29890	7.436000	0.80404	2.270000	0.75569	0.460000	0.39030	TTG		0.478	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		C	121259876	T	C	121259876	3	2	27	1	0	0	0	0	1	0	0	0	3671	1821	63	4	2582	4	COL14A1	8	121259876	Missense_Mutation	SNP	T	TCGA-04-1530-01A-02W-0552-10	28904221	121259876	25104146	28	1349											
FER1L6	654463	hgsc.bcm.edu	37	8	125047661	125047661	+	Silent	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr8:125047661C>T	ENST00000522917.1	+	19	2636	c.2430C>T	c.(2428-2430)ggC>ggT	p.G810G	RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.G810G	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	810						integral component of membrane (GO:0016021)		p.G810G(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGGGGCTGGCACCAATCACC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	8											60	59	59					8																	125047661		1939	4141	6080	125116842	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2430C>T	8.37:g.125047661C>T			125116842		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.532	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	125047661	C	T	125047661	2	4	27	1	0	0	0	0	0	0	0	1	5815	697	25	2		2	FER1L6	8	125047661	Silent	SNP	C	TCGA-04-1530-01A-02W-0552-10	3787785	125047661	21316361	29	1350											
NOL8	55035	hgsc.bcm.edu	37	9	95077666	95077666	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr9:95077666T>G	ENST00000535387.1	-	6	1240	c.1241A>C	c.(1240-1242)aAt>aCt	p.N414T	NOL8_ENST00000542053.1_Missense_Mutation_p.N346T|NOL8_ENST00000358855.4_Missense_Mutation_p.N346T|NOL8_ENST00000545558.1_Missense_Mutation_p.N414T|NOL8_ENST00000442668.2_Missense_Mutation_p.N414T					nucleolar protein 8									p.N416T(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GTTTTCTCTATTTTTGAAAGA	0.313																																																1	Substitution - Missense(1)	ovary(1)	9											25	21	22					9																	95077666		1802	4054	5856	94117487	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1241A>C	9.37:g.95077666T>G	ENSP00000441300:p.Asn414Thr		94117487		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	0.944	-0.708627	0.03230	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.17854	2.52;2.52;2.52;2.74;2.52;2.25	5.69	-1.34	0.09143	.	1.056050	0.07388	N	0.888603	T	0.09468	0.0233	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.36866	-0.9730	10	0.45353	T	0.12	-2.8735	6.4006	0.21636	0.0:0.3115:0.2223:0.4663	.	414	Q76FK4	NOL8_HUMAN	T	414;416;346;414;414;346;414	ENSP00000401177:N414T;ENSP00000351723:N346T;ENSP00000441140:N414T;ENSP00000441300:N414T;ENSP00000440709:N346T;ENSP00000414112:N414T	ENSP00000351723:N346T	N	-	2	0	NOL8	94117487	0.208000	0.23494	0.011000	0.14972	0.105000	0.19272	0.225000	0.17757	-0.139000	0.11414	0.533000	0.62120	AAT		0.313	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		G	95077666	T	G	95077666	3	3	27	1	0	0	0	0	1	0	0	0	10527	1493	52	5	2306	5	NOL8	9	95077666	Missense_Mutation	SNP	T	TCGA-04-1530-01A-02W-0552-10		95077666	46135765	30	1351											
PTPDC1	138639	hgsc.bcm.edu	37	9	96859668	96859668	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr9:96859668G>C	ENST00000375360.3	+	7	998	c.658G>C	c.(658-660)Gtg>Ctg	p.V220L	PTPDC1_ENST00000288976.3_Missense_Mutation_p.V272L	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	220	Tyrosine-protein phosphatase.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V272L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AATTATATTTGTGCGGGCAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											71	69	69					9																	96859668		2203	4300	6503	95899489	SO:0001583	missense	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.658G>C	9.37:g.96859668G>C	ENSP00000364509:p.Val220Leu		95899489	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	25.5	4.641500	0.87859	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	D;D	0.85629	-2.01;-2.01	5.55	5.55	0.83447	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	L	0.43598	1.365	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.76071	0.983;0.97;0.987;0.983	D	0.87772	0.2606	10	0.33940	T	0.23	-18.9387	18.4793	0.90806	0.0:0.0:1.0:0.0	.	274;272;274;220	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	L	220;272	ENSP00000364509:V220L;ENSP00000288976:V272L	ENSP00000288976:V272L	V	+	1	0	PTPDC1	95899489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.160000	0.71862	2.610000	0.88304	0.591000	0.81541	GTG		0.408	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		C	96859668	G	C	96859668	3	2	27	1	0	0	0	0	1	0	0	0	12776	1377	48	3	922	3	PTPDC1	9	96859668	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	1782002	96859668	44353763	31	1352											
PPP3R2	116443	hgsc.bcm.edu	37	9	104356948	104356948	+	Intron	SNP	C	C	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr9:104356948C>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.G89C	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.G89C(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCCTCGTCGCCCTTGACGCTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	9											125	119	121					9																	104356948		2203	4300	6503	103396769	SO:0001627	intron_variant	5535				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15306G>T	9.37:g.104356948C>A			103396769	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144706	0.37825	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.34275	1.37	3.97	3.08	0.35506	EF-hand-like domain (1);	0.000000	0.41712	D	0.000829	T	0.50274	0.1606	M	0.89353	3.025	0.46954	D	0.999267	D	0.55605	0.972	P	0.48704	0.587	T	0.61272	-0.7096	10	0.87932	D	0	-17.6975	10.1727	0.42920	0.0:0.8999:0.0:0.1001	.	86	Q96LZ3	CANB2_HUMAN	C	89	ENSP00000363939:G89C	ENSP00000363939:G89C	G	-	1	0	PPP3R2	103396769	0.995000	0.38212	0.064000	0.19789	0.118000	0.20060	3.608000	0.54109	1.264000	0.44198	-0.244000	0.11960	GGC		0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			A	104356948	C	A	104356948	1	1	27	0	1	0	0	0	0	0	0	0	12404	623	22	3		3	PPP3R2	9	104356948	Intron	SNP	C	TCGA-04-1530-01A-02W-0552-10	7497280	104356948	36856483	32	1353											
FBXW2	26190	hgsc.bcm.edu	37	9	123538409	123538409	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr9:123538409G>C	ENST00000608872.1	-	5	968	c.781C>G	c.(781-783)Ctg>Gtg	p.L261V	FBXW2_ENST00000340778.5_Missense_Mutation_p.L196V|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	261					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)	p.L261V(1)		ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AGTGTGTTCAGGCATGTCCCA	0.502																																																1	Substitution - Missense(1)	ovary(1)	9											142	145	144					9																	123538409		2043	4191	6234	122578230	SO:0001583	missense	26190			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.781C>G	9.37:g.123538409G>C	ENSP00000476369:p.Leu261Val		122578230	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948853	0.53186	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833;ENST00000453291	T;T;T	0.18657	2.21;2.2;2.21	5.18	4.27	0.50696	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.150434	0.45126	N	0.000387	T	0.13970	0.0338	L	0.33485	1.01	0.50171	D	0.999855	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.12156	0.007;0.001;0.002	T	0.09885	-1.0654	10	0.19147	T	0.46	-2.6315	7.447	0.27217	0.0893:0.1709:0.7397:0.0	.	196;261;261	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	V	261;196;261;132	ENSP00000363036:L261V;ENSP00000341161:L196V;ENSP00000398662:L132V	ENSP00000341161:L196V	L	-	1	2	FBXW2	122578230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.609000	0.74173	1.270000	0.44297	0.563000	0.77884	CTG		0.502	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			C	123538409	G	C	123538409	3	2	27	1	0	0	0	0	1	0	0	0	5766	991	35	3	599	3	FBXW2	9	123538409	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	19181461	123538409	17675022	33	1354											
IDI2	91734	hgsc.bcm.edu	37	10	1066735	1066735	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr10:1066735T>G	ENST00000277517.1	-	4	402	c.338A>C	c.(337-339)cAa>cCa	p.Q113P	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	113	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)	p.Q113P(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CAGCTCTGCTTGCAGACGCCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	10											98	84	88					10																	1066735		2203	4300	6503	1056735	SO:0001583	missense	91734			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.338A>C	10.37:g.1066735T>G	ENSP00000277517:p.Gln113Pro		1056735		Missense_Mutation	SNP	ENST00000277517.1	37	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550780	0.45383	.	.	ENSG00000148377	ENST00000277517	T	0.08370	3.1	4.09	4.09	0.47781	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.472749	0.23402	U	0.048569	T	0.14313	0.0346	M	0.66506	2.035	0.34737	D	0.730342	P	0.37083	0.581	B	0.42593	0.392	T	0.17471	-1.0368	10	0.33141	T	0.24	-24.96	12.9989	0.58664	0.0:0.0:0.0:1.0	.	113	Q9BXS1	IDI2_HUMAN	P	113	ENSP00000277517:Q113P	ENSP00000277517:Q113P	Q	-	2	0	IDI2	1056735	0.932000	0.31603	0.031000	0.17742	0.005000	0.04900	2.658000	0.46733	1.615000	0.50252	0.346000	0.21813	CAA		0.557	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		G	1066735	T	G	1066735	3	3	27	1	0	0	0	0	1	0	0	0	7500	1812	63	5	353	5	IDI2	10	1066735	Missense_Mutation	SNP	T	TCGA-04-1530-01A-02W-0552-10		1066735	134468012	34	1355											
SLC16A9	220963	hgsc.bcm.edu	37	10	61413432	61413432	+	Splice_Site	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr10:61413432C>T	ENST00000395348.3	-	5	1988		c.e5+1		SLC16A9_ENST00000395347.1_Splice_Site	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9						urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.?(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AAATATCTTACCAACGATGGG	0.383																																																1	Unknown(1)	ovary(1)	10											63	62	63					10																	61413432		2203	4300	6503	61083438	SO:0001630	splice_region_variant	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1351+1G>A	10.37:g.61413432C>T			61083438	Q6ZMI2|Q9UFH8	Splice_Site	SNP	ENST00000395348.3	37	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169760	0.78452	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7057	0.91637	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC16A9	61083438	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.434000	0.80377	2.498000	0.84270	0.591000	0.81541	.		0.383	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298	Intron	T	61413432	C	T	61413432	5	4	27	1	0	0	0	0	0	0	1	0	14418	521	18	2	185	2	SLC16A9	10	61413432	Splice_Site	SNP	C	TCGA-04-1530-01A-02W-0552-10	60346697	61413432	74121315	35	1356											
CYP26A1	1592	hgsc.bcm.edu	37	10	94835617	94835617	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr10:94835617G>C	ENST00000224356.4	+	5	944	c.899G>C	c.(898-900)gGa>gCa	p.G300A	CYP26A1_ENST00000371531.1_Missense_Mutation_p.G231A|CYP26A1_ENST00000394139.1_Missense_Mutation_p.G231A	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	300					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.G231A(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CTCCTCTTTGGAGGACACGAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	10											82	78	79					10																	94835617		2203	4300	6503	94825607	SO:0001583	missense	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.899G>C	10.37:g.94835617G>C	ENSP00000224356:p.Gly300Ala		94825607	B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096054	0.20552	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.58060	0.36;0.36;0.36	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	N	0.11698	0.16	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.14578	0.011;0.002	T	0.25847	-1.0120	10	0.02654	T	1	-9.8409	19.0472	0.93027	0.0:0.0:1.0:0.0	.	231;300	B3KNI4;O43174	.;CP26A_HUMAN	A	231;300;231	ENSP00000360586:G231A;ENSP00000224356:G300A;ENSP00000377695:G231A	ENSP00000224356:G300A	G	+	2	0	CYP26A1	94825607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.986000	0.93492	2.749000	0.94314	0.655000	0.94253	GGA		0.493	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			C	94835617	G	C	94835617	3	2	27	1	0	0	0	0	1	0	0	0	4155	1174	41	3	917	3	CYP26A1	10	94835617	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	33422185	94835617	40699130	36	1357											
SCYL1	57410	hgsc.bcm.edu	37	11	65303522	65303522	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr11:65303522C>G	ENST00000270176.5	+	11	1562	c.1485C>G	c.(1483-1485)caC>caG	p.H495Q	SCYL1_ENST00000533862.1_Missense_Mutation_p.H495Q|SCYL1_ENST00000420247.2_Missense_Mutation_p.H495Q|SCYL1_ENST00000527009.1_Missense_Mutation_p.H352Q|SCYL1_ENST00000279270.6_Missense_Mutation_p.H495Q|SCYL1_ENST00000524944.1_Missense_Mutation_p.H495Q|SCYL1_ENST00000525364.1_Missense_Mutation_p.H495Q	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	495			H -> Y (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.H495Q(2)		ovary(1)|skin(1)	2						CTGCCACCCACAACCTCTACT	0.592																																																2	Substitution - Missense(2)	ovary(2)	11											90	92	91					11																	65303522		1981	4155	6136	65060098	SO:0001583	missense	57410			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1485C>G	11.37:g.65303522C>G	ENSP00000270176:p.His495Gln		65060098	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944623	0.34283	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.104625	0.64402	D	0.000005	T	0.18718	0.0449	N	0.16656	0.425	0.58432	D	0.999997	B;B;B;B;B	0.20052	0.005;0.041;0.041;0.041;0.011	B;B;B;B;B	0.20955	0.014;0.032;0.032;0.032;0.006	T	0.05257	-1.0896	10	0.02654	T	1	-11.242	16.7806	0.85562	0.0:1.0:0.0:0.0	.	495;495;495;495;495	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	Q	495;495;495;495;495;495;495;495;352	ENSP00000270176:H495Q;ENSP00000431635:H495Q;ENSP00000408192:H495Q;ENSP00000437254:H495Q;ENSP00000433450:H495Q;ENSP00000279270:H495Q;ENSP00000432175:H495Q;ENSP00000436993:H352Q	ENSP00000270176:H495Q	H	+	3	2	SCYL1	65060098	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.894000	0.56250	2.577000	0.86979	0.462000	0.41574	CAC		0.592	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		G	65303522	C	G	65303522	3	3	27	1	0	0	0	0	1	0	0	0	13950	477	17	3	1527	3	SCYL1	11	65303522	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		65303522	69702994	37	1358											
SLC2A3	6515	hgsc.bcm.edu	37	12	8075601	8075601	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr12:8075601C>T	ENST00000075120.7	-	9	1328	c.1088G>A	c.(1087-1089)aGc>aAc	p.S363N		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	363					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.S363N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ACAGACAAAGCTCATCCCATT	0.433																																					Colon(96;424 1461 14416 20933 23688)											1	Substitution - Missense(1)	ovary(1)	12											38	38	38					12																	8075601		2203	4300	6503	7966868	SO:0001583	missense	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1088G>A	12.37:g.8075601C>T	ENSP00000075120:p.Ser363Asn		7966868	B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	9.554	1.116646	0.20795	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	D	0.81908	-1.55	4.34	3.43	0.39272	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.131649	0.64402	D	0.000001	D	0.84515	0.5489	M	0.66506	2.035	0.41203	D	0.986381	B	0.26902	0.163	B	0.40477	0.33	D	0.84046	0.0367	10	0.56958	D	0.05	.	12.2557	0.54623	0.0:0.8272:0.1728:0.0	.	363	P11169	GTR3_HUMAN	N	363;289	ENSP00000075120:S363N	ENSP00000075120:S363N	S	-	2	0	SLC2A3	7966868	0.998000	0.40836	0.978000	0.43139	0.078000	0.17371	2.623000	0.46435	1.151000	0.42436	0.655000	0.94253	AGC		0.433	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		T	8075601	C	T	8075601	3	4	27	1	0	0	0	0	1	0	0	0	14548	797	28	2	410	2	SLC2A3	12	8075601	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		8075601	125776294	38	1359											
TIMELESS	8914	hgsc.bcm.edu	37	12	56815921	56815921	+	Silent	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr12:56815921C>T	ENST00000553532.1	-	20	2643	c.2493G>A	c.(2491-2493)cgG>cgA	p.R831R	TIMELESS_ENST00000229201.4_Silent_p.R830R|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.R831R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGTACAGCTCCCGAAGATGAG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	12											106	98	101					12																	56815921		2203	4300	6503	55102188	SO:0001819	synonymous_variant	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2493G>A	12.37:g.56815921C>T			55102188		Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																				0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		T	56815921	C	T	56815921	2	4	27	1	0	0	0	0	0	0	0	1	15904	610	22	2		2	TIMELESS	12	56815921	Silent	SNP	C	TCGA-04-1530-01A-02W-0552-10	48740320	56815921	77035974	39	1360											
CSNK1A1L	122011	hgsc.bcm.edu	37	13	37679077	37679077	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr13:37679077C>T	ENST00000379800.3	-	1	726	c.317G>A	c.(316-318)aGa>aAa	p.R106K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R106K(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GGTGAACCTTCTTGAACAGAA	0.428																																																1	Substitution - Missense(1)	ovary(1)	13											125	119	121					13																	37679077		2203	4300	6503	36577077	SO:0001583	missense	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.317G>A	13.37:g.37679077C>T	ENSP00000369126:p.Arg106Lys		36577077	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449492	0.63178	.	.	ENSG00000180138	ENST00000379800	T	0.63580	-0.05	1.01	1.01	0.19927	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	L	0.57536	1.79	0.41499	D	0.988276	D	0.58970	0.984	D	0.66084	0.941	T	0.69731	-0.5066	10	0.87932	D	0	.	7.8591	0.29499	0.0:1.0:0.0:0.0	.	106	Q8N752	KC1AL_HUMAN	K	106	ENSP00000369126:R106K	ENSP00000369126:R106K	R	-	2	0	CSNK1A1L	36577077	1.000000	0.71417	0.138000	0.22173	0.906000	0.53458	5.366000	0.66122	0.825000	0.34637	0.561000	0.74099	AGA		0.428	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		T	37679077	C	T	37679077	3	4	27	1	0	0	0	0	1	0	0	0	3951	913	32	2	700	2	CSNK1A1L	13	37679077	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		37679077	77490801	40	1361											
RNASE11	122651	hgsc.bcm.edu	37	14	21052068	21052068	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr14:21052068A>C	ENST00000610205.1	-	3	749	c.566T>G	c.(565-567)cTg>cGg	p.L189R	RNASE11_ENST00000553849.1_Missense_Mutation_p.L189R|RNASE11_ENST00000398008.2_Missense_Mutation_p.L189R|RNASE11_ENST00000555841.1_Missense_Mutation_p.L189R|RNASE11_ENST00000398009.2_Missense_Mutation_p.L189R|RNASE11_ENST00000432835.2_Missense_Mutation_p.L189R	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	189						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.L189R(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		CCAGCTCATCAGAGAATGACC	0.423																																																1	Substitution - Missense(1)	ovary(1)	14											85	73	77					14																	21052068		2203	4300	6503	20121908	SO:0001583	missense	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.566T>G	14.37:g.21052068A>C	ENSP00000476537:p.Leu189Arg		20121908		Missense_Mutation	SNP	ENST00000610205.1	37	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284797	0.59867	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	3.88	2.74	0.32292	Ribonuclease A, domain (1);	0.453245	0.17844	N	0.160085	T	0.49847	0.1581	L	0.27053	0.805	0.30897	N	0.729683	D	0.89917	1.0	D	0.81914	0.995	T	0.51196	-0.8736	10	0.87932	D	0	-22.9072	5.9833	0.19419	0.8824:0.0:0.1176:0.0	.	189	Q8TAA1	RNS11_HUMAN	R	189	ENSP00000338288:L189R;ENSP00000451318:L189R;ENSP00000451563:L189R;ENSP00000381093:L189R;ENSP00000381092:L189R;ENSP00000395210:L189R	ENSP00000338288:L189R	L	-	2	0	RNASE11	20121908	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.979000	0.40608	0.850000	0.35239	0.418000	0.28097	CTG		0.423	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		C	21052068	A	C	21052068	3	2	27	1	0	0	0	0	1	0	0	0	13404	188	7	5	37	5	RNASE11	14	21052068	Missense_Mutation	SNP	A	TCGA-04-1530-01A-02W-0552-10		21052068	86297472	41	1362											
FLVCR2	55640	hgsc.bcm.edu	37	14	76107536	76107536	+	Silent	SNP	C	C	A	rs143830535		TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr14:76107536C>A	ENST00000238667.4	+	8	1709	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.I166I|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.I246I	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	451					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.I451I(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TATTTGGGATCATCTTTACCA	0.478													C|||	1	0.000199681	0	0	5008	,	,		22166	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	14											151	127	135					14																	76107536		2203	4300	6503	75177289	SO:0001819	synonymous_variant	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1353C>A	14.37:g.76107536C>A			75177289	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	CCDS9844.1																																																																																				0.478	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		A	76107536	C	A	76107536	2	1	27	1	0	0	0	0	0	0	0	1	5946	816	29	3		3	FLVCR2	14	76107536	Silent	SNP	C	TCGA-04-1530-01A-02W-0552-10	55055468	76107536	31242004	42	1363											
AHNAK2	113146	hgsc.bcm.edu	37	14	105404929	105404930	+	Frame_Shift_Ins	INS	-	-	G	rs372736452		TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr14:105404929_105404930insG	ENST00000333244.5	-	7	16977_16978	c.16858_16859insC	c.(16858-16860)caafs	p.Q5620fs	AHNAK2_ENST00000557457.1_Frame_Shift_Ins_p.Q618fs	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5620						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.Q590fs*10(1)|p.Q5620fs*10(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTTGCCTCTTGGCTATCATCA	0.485																																																2	Insertion - Frameshift(2)	ovary(2)	14																																								104475975	SO:0001589	frameshift_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16859dupC	14.37:g.105404931_105404931dupG	ENSP00000353114:p.Gln5620fs		104475974	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Ins	INS	ENST00000333244.5	37	CCDS45177.1																																																																																				0.485	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105404930	-	G	105404929	7	5	27	1	0	1	1	0	0	0	0	0	415	1812	63	0	532	0	AHNAK2	14	105404929	Frame_Shift_Ins	INS	-	TCGA-04-1530-01A-02W-0552-10	29297393	105404929	1944611	43	1364											
FMN1	342184	hgsc.bcm.edu	37	15	33091129	33091129	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr15:33091129C>T	ENST00000559047.1	-	16	4005	c.4006G>A	c.(4006-4008)Ggg>Agg	p.G1336R	FMN1_ENST00000334528.9_Missense_Mutation_p.G1113R|FMN1_ENST00000561249.1_Missense_Mutation_p.G1238R			Q68DA7	FMN1_HUMAN	formin 1	1336	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1336R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGCTTCATCCCAAAATATCGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	15											79	70	73					15																	33091129		1877	4123	6000	30878421	SO:0001583	missense	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4006G>A	15.37:g.33091129C>T	ENSP00000454047:p.Gly1336Arg		30878421	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	22.9	4.345387	0.82022	.	.	ENSG00000248905	ENST00000334528	T	0.69806	-0.43	5.86	5.86	0.93980	.	0.096844	0.64402	D	0.000001	T	0.81786	0.4896	M	0.73217	2.22	.	.	.	D	0.76494	0.999	D	0.76575	0.988	T	0.78836	-0.2047	9	0.37606	T	0.19	.	20.1785	0.98192	0.0:1.0:0.0:0.0	.	1113	Q68DA7-5	.	R	1113	ENSP00000333950:G1113R	ENSP00000333950:G1113R	G	-	1	0	FMN1	30878421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.722000	0.68485	2.773000	0.95371	0.655000	0.94253	GGG		0.448	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		T	33091129	C	T	33091129	3	4	27	1	0	0	0	0	1	0	0	0	5949	594	21	2	265	2	FMN1	15	33091129	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		33091129	69440263	44	1365											
TBC1D21	161514	hgsc.bcm.edu	37	15	74178503	74178503	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr15:74178503G>C	ENST00000300504.2	+	7	747	c.664G>C	c.(664-666)Gct>Cct	p.A222P	TBC1D21_ENST00000562056.1_Missense_Mutation_p.A185P|TBC1D21_ENST00000535547.2_Missense_Mutation_p.A186P	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	222	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.A222P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCCCGTGTTTGCTGAGCACCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	15											186	128	148					15																	74178503		2198	4297	6495	71965556	SO:0001583	missense	161514			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.664G>C	15.37:g.74178503G>C	ENSP00000300504:p.Ala222Pro		71965556	B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558468	0.65538	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.23348	1.91;1.91	4.78	4.78	0.61160	Rab-GAP/TBC domain (5);	0.000000	0.52532	D	0.000078	T	0.31544	0.0800	L	0.29908	0.895	0.42212	D	0.991815	P;P	0.51537	0.946;0.497	P;P	0.56127	0.792;0.611	T	0.02150	-1.1205	10	0.37606	T	0.19	.	13.6457	0.62279	0.0:0.0:1.0:0.0	.	186;222	B9A6M2;Q8IYX1	.;TBC21_HUMAN	P	222;186	ENSP00000300504:A222P;ENSP00000439325:A186P	ENSP00000300504:A222P	A	+	1	0	TBC1D21	71965556	1.000000	0.71417	0.987000	0.45799	0.820000	0.46376	1.798000	0.38814	2.371000	0.80710	0.536000	0.68110	GCT		0.592	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		C	74178503	G	C	74178503	3	2	27	1	0	0	0	0	1	0	0	0	15610	1319	46	3	690	3	TBC1D21	15	74178503	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	41087374	74178503	28352889	45	1366											
RBBP6	5930	hgsc.bcm.edu	37	16	24578678	24578678	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr16:24578678C>T	ENST00000319715.4	+	15	2236	c.1804C>T	c.(1804-1806)Cca>Tca	p.P602S	RBBP6_ENST00000348022.2_Missense_Mutation_p.P602S|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	602					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P602S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGTCCCTCCTCCAGGGTTTCC	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											211	217	215					16																	24578678		2197	4300	6497	24486179	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1804C>T	16.37:g.24578678C>T	ENSP00000317872:p.Pro602Ser		24486179	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039771	0.55003	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.19394	2.15;2.55	5.9	5.9	0.94986	.	0.072077	0.52532	D	0.000074	T	0.39759	0.1090	L	0.32530	0.975	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.08249	-1.0731	10	0.62326	D	0.03	-13.7204	20.2723	0.98479	0.0:1.0:0.0:0.0	.	602;602	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	S	602	ENSP00000317872:P602S;ENSP00000316291:P602S	ENSP00000317872:P602S	P	+	1	0	RBBP6	24486179	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.500000	0.60387	2.793000	0.96121	0.563000	0.77884	CCA		0.542	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		T	24578678	C	T	24578678	3	4	27	1	0	0	0	0	1	0	0	0	13106	855	30	2	1916	2	RBBP6	16	24578678	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		24578678	65776075	46	1367											
SLC9A5	6553	hgsc.bcm.edu	37	16	67288982	67288982	+	Silent	SNP	G	G	A	rs374255508		TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr16:67288982G>A	ENST00000299798.11	+	3	614	c.549G>A	c.(547-549)gcG>gcA	p.A183A	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	183					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.A183A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCATCTCGGCGGTGGACCCCG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	16						G		0,4292		0,0,2146	81	88	86		549	-11.9	0.7	16		86	1,8543		0,1,4271	no	coding-synonymous	SLC9A5	NM_004594.2		0,1,6417	AA,AG,GG		0.0117,0.0,0.0078		183/897	67288982	1,12835	2146	4272	6418	65846483	SO:0001819	synonymous_variant	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.549G>A	16.37:g.67288982G>A			65846483	A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	CCDS42178.1																																																																																				0.557	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			A	67288982	G	A	67288982	2	1	27	1	0	0	0	0	0	0	0	1	14720	1103	39	1		1	SLC9A5	16	67288982	Silent	SNP	G	TCGA-04-1530-01A-02W-0552-10	42710304	67288982	23065771	47	1368											
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	27	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		7577120	73618090	48	1369											
DHX8	1659	hgsc.bcm.edu	37	17	41571123	41571123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr17:41571123G>T	ENST00000262415.3	+	8	1153	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.E361*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	361					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E361*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GACCAATGAGGAGACCTCAAT	0.507																																					NSCLC(56;1548 1661 49258 49987)											1	Substitution - Nonsense(1)	ovary(1)	17											185	190	189					17																	41571123		2203	4300	6503	38926649	SO:0001587	stop_gained	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1081G>T	17.37:g.41571123G>T	ENSP00000262415:p.Glu361*		38926649		Nonsense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	38	7.062617	0.98036	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.89	5.89	0.94794	.	0.047811	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	19.2448	0.93898	0.0:0.0:1.0:0.0	.	.	.	.	X	361	.	ENSP00000262415:E361X	E	+	1	0	DHX8	38926649	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.431000	0.97494	2.793000	0.96121	0.561000	0.74099	GAG		0.507	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			T	41571123	G	T	41571123	4	4	27	1	0	0	0	0	0	1	0	0	4515	1175	41	3	1111	3	DHX8	17	41571123	Nonsense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	33994003	41571123	39624087	49	1370											
CABLES1	91768	hgsc.bcm.edu	37	18	20833760	20833760	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr18:20833760G>A	ENST00000256925.7	+	9	1621	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.A276T|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.A214T	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	541					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.A541T(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGTGGCCATGGCCTTCGTCTA	0.547																																																1	Substitution - Missense(1)	ovary(1)	18											52	55	54					18																	20833760		1993	4172	6165	19087758	SO:0001583	missense	91768			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1621G>A	18.37:g.20833760G>A	ENSP00000256925:p.Ala541Thr		19087758	B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398697	0.96030	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.43294	0.95;0.95;0.95	4.93	4.93	0.64822	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.987;0.999	T	0.73802	-0.3868	10	0.87932	D	0	-8.7419	18.7053	0.91635	0.0:0.0:1.0:0.0	.	276;541	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	T	214;541;276	ENSP00000383321:A214T;ENSP00000256925:A541T;ENSP00000413851:A276T	ENSP00000256925:A541T	A	+	1	0	CABLES1	19087758	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.601000	0.98297	2.728000	0.93425	0.655000	0.94253	GCC		0.547	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		A	20833760	G	A	20833760	3	1	27	1	0	0	0	0	1	0	0	0	2529	1203	42	2	1709	2	CABLES1	18	20833760	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10		20833760	57243488	50	1371											
MUC16	94025	hgsc.bcm.edu	37	19	9087711	9087711	+	Silent	SNP	A	A	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr19:9087711A>T	ENST00000397910.4	-	1	4307	c.4104T>A	c.(4102-4104)ccT>ccA	p.P1368P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1368	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P1368P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAGATTTTAGGACTTCCAG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	19											172	177	175					19																	9087711		2195	4298	6493	8948711	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4104T>A	19.37:g.9087711A>T			8948711	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9087711	A	T	9087711	2	4	27	1	0	0	0	0	0	0	0	1	9973	407	15	5		5	MUC16	19	9087711	Silent	SNP	A	TCGA-04-1530-01A-02W-0552-10		9087711	50041272	51	1372											
OR7D2	162998	hgsc.bcm.edu	37	19	9297069	9297069	+	Silent	SNP	T	T	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr19:9297069T>A	ENST00000344248.2	+	1	791	c.612T>A	c.(610-612)ggT>ggA	p.G204G		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	204					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G204G(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTATGACGGGTGTGCTGGGCG	0.443																																																1	Substitution - coding silent(1)	ovary(1)	19											145	136	139					19																	9297069		2203	4300	6503	9158069	SO:0001819	synonymous_variant	162998			AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.612T>A	19.37:g.9297069T>A			9158069	Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	CCDS32900.1																																																																																				0.443	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			A	9297069	T	A	9297069	2	1	27	1	0	0	0	0	0	0	0	1	11219	1683	59	5		5	OR7D2	19	9297069	Silent	SNP	T	TCGA-04-1530-01A-02W-0552-10	209358	9297069	49831914	52	1373											
SIRPD	128646	hgsc.bcm.edu	37	20	1532543	1532543	+	Missense_Mutation	SNP	C	C	T	rs139039354	byFrequency	TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr20:1532543C>T	ENST00000381623.3	-	2	1404	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	SIRPD_ENST00000381621.1_Missense_Mutation_p.R72Q			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	72	Ig-like V-type.					extracellular region (GO:0005576)		p.R72Q(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GATTAATTTCCGGTTTGGCCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	20						C	GLN/ARG	0,4406		0,0,2203	144	142	143		215	-0.3	0	20	dbSNP_134	143	2,8598		0,2,4298	no	missense	SIRPD	NM_178460.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	72/198	1532543	2,13004	2203	4300	6503	1480543	SO:0001583	missense	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.215G>A	20.37:g.1532543C>T	ENSP00000371036:p.Arg72Gln		1480543	B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	CCDS13018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.4|24.4	4.522730|4.522730	0.85600|0.85600	0.0|0.0	2.33E-4|2.33E-4	ENSG00000125900|ENSG00000125900	ENST00000429387|ENST00000381623;ENST00000381621	.|T;T	.|0.42900	.|4.36;0.96	4.03|4.03	-0.332|-0.332	0.12675|0.12675	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|1.160920	.|0.06782	.|N	.|0.785533	T|T	0.30039|0.30039	0.0752|0.0752	M|M	0.66378|0.66378	2.025|2.025	0.09310|0.09310	N|N	1|1	.|P	.|0.46578	.|0.88	.|B	.|0.25140	.|0.058	T|T	0.33929|0.33929	-0.9849|-0.9849	5|10	.|0.54805	.|T	.|0.06	.|.	3.9226|3.9226	0.09250|0.09250	0.0:0.5036:0.1791:0.3173|0.0:0.5036:0.1791:0.3173	.|.	.|72	.|Q9H106	.|SIRPD_HUMAN	R|Q	15|72	.|ENSP00000371036:R72Q;ENSP00000371034:R72Q	.|ENSP00000371034:R72Q	G|R	-|-	1|2	0|0	SIRPD|SIRPD	1480543|1480543	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.765000|0.765000	0.43378|0.43378	-0.086000|-0.086000	0.11233|0.11233	-0.108000|-0.108000	0.12066|0.12066	0.558000|0.558000	0.71614|0.71614	GGA|CGG		0.463	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		T	1532543	C	T	1532543	3	4	27	1	0	0	0	0	1	0	0	0	14338	652	23	1	390	1	SIRPD	20	1532543	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		1532543	61492977	53	1374											
DNMT3B	1789	hgsc.bcm.edu	37	20	31376728	31376728	+	Silent	SNP	C	C	G			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr20:31376728C>G	ENST00000328111.2	+	7	1044	c.723C>G	c.(721-723)gcC>gcG	p.A241A	DNMT3B_ENST00000348286.2_Silent_p.A241A|DNMT3B_ENST00000353855.2_Silent_p.A241A|DNMT3B_ENST00000375623.4_Silent_p.A199A|DNMT3B_ENST00000201963.3_Silent_p.A253A|DNMT3B_ENST00000456297.2_Silent_p.A165A|DNMT3B_ENST00000443239.3_Silent_p.A199A|DNMT3B_ENST00000344505.4_Silent_p.A241A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	241	Interaction with DNMT1 and DNMT3A.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.A241A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGCCCGCCATGGTGGTGT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	20											87	83	84					20																	31376728		2203	4300	6503	30840389	SO:0001819	synonymous_variant	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.723C>G	20.37:g.31376728C>G			30840389	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	CCDS13205.1																																																																																				0.572	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		G	31376728	C	G	31376728	2	3	27	1	0	0	0	0	0	0	0	1	4677	581	21	3		3	DNMT3B	20	31376728	Silent	SNP	C	TCGA-04-1530-01A-02W-0552-10	29844185	31376728	31648792	54	1375											
C20orf185	359710	hgsc.bcm.edu	37	20	31656703	31656703	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr20:31656703T>A	ENST00000375494.3	+	10	1073	c.1073T>A	c.(1072-1074)gTc>gAc	p.V358D		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	358					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V358D(1)									AAGGCCTTGGTCTCCCTCCCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	20											135	97	110					20																	31656703		2203	4300	6503	31120364	SO:0001583	missense	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1073T>A	20.37:g.31656703T>A	ENSP00000364643:p.Val358Asp		31120364	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.239931	0.39598	.	.	ENSG00000186190	ENST00000375494	T	0.12039	2.72	4.25	4.25	0.50352	.	0.727247	0.11826	N	0.525686	T	0.29093	0.0723	M	0.63843	1.955	0.53688	D	0.999973	P	0.51791	0.948	P	0.57846	0.828	T	0.01635	-1.1307	10	0.87932	D	0	-15.4807	9.9298	0.41514	0.0:0.0:0.0:1.0	.	358	P59826	BPIB3_HUMAN	D	358	ENSP00000364643:V358D	ENSP00000364643:V358D	V	+	2	0	BPIFB3	31120364	0.907000	0.30839	0.894000	0.35097	0.050000	0.14768	3.346000	0.52190	1.918000	0.55548	0.482000	0.46254	GTC		0.602	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		A	31656703	T	A	31656703	3	1	27	1	0	0	0	0	1	0	0	0	2097	1667	58	5	1111	5	C20orf185	20	31656703	Missense_Mutation	SNP	T	TCGA-04-1530-01A-02W-0552-10	279975	31656703	31368817	55	1376											
SPINT4	391253	hgsc.bcm.edu	37	20	44351107	44351107	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr20:44351107G>A	ENST00000279058.3	+	1	118	c.101G>A	c.(100-102)tGt>tAt	p.C34Y		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	34						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.C34Y(1)		lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				GAGAAGATATGTGGAGACCTC	0.383																																																1	Substitution - Missense(1)	ovary(1)	20											133	125	128					20																	44351107		2203	4300	6503	43784521	SO:0001583	missense	391253			AY372174	CCDS33477.1	20q13.12	2012-08-20	2005-10-18	2005-10-25	ENSG00000149651	ENSG00000149651			16130	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 137", "serine peptidase inhibitor, Kunitz type 4"	C20orf137		21988899	Standard	NM_178455		Approved	dJ601O1.1	uc002xpe.1	Q6UDR6	OTTHUMG00000130153	ENST00000279058.3:c.101G>A	20.37:g.44351107G>A	ENSP00000279058:p.Cys34Tyr		43784521	Q9BQN3	Missense_Mutation	SNP	ENST00000279058.3	37	CCDS33477.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371145	0.42003	.	.	ENSG00000149651	ENST00000279058	T	0.58210	0.35	3.97	3.97	0.46021	Proteinase inhibitor I2, Kunitz metazoa (1);	0.000000	0.49305	D	0.000141	T	0.68559	0.3014	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59595	-0.7425	9	0.72032	D	0.01	-23.8837	11.848	0.52395	0.0:0.0:1.0:0.0	.	34	Q6UDR6	SPIT4_HUMAN	Y	34	ENSP00000279058:C34Y	ENSP00000279058:C34Y	C	+	2	0	SPINT4	43784521	0.616000	0.27035	0.056000	0.19401	0.004000	0.04260	2.436000	0.44819	2.507000	0.84556	0.650000	0.86243	TGT		0.383	SPINT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252463.2	XM_372869		A	44351107	G	A	44351107	3	1	27	1	0	0	0	0	1	0	0	0	15072	1377	48	2	103	2	SPINT4	20	44351107	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	12694404	44351107	18674413	56	1377											
ATP9A	10079	hgsc.bcm.edu	37	20	50255883	50255883	+	Splice_Site	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr20:50255883C>T	ENST00000338821.5	-	15	1931	c.1667G>A	c.(1666-1668)cGg>cAg	p.R556Q	ATP9A_ENST00000311637.5_Splice_Site_p.R420Q|ATP9A_ENST00000402822.1_Splice_Site_p.R435Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	556					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R556Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGACTCACCCGCACGATGAT	0.498											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	20											190	155	166					20																	50255883		2203	4300	6503	49689290	SO:0001630	splice_region_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1668+1G>A	20.37:g.50255883C>T		968	49689290	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965202	0.74131	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.70399	-0.48;-0.48;-0.48	5.36	4.42	0.53409	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	L	0.54908	1.71	0.80722	D	1	D;P	0.69078	0.997;0.941	D;P	0.69479	0.964;0.655	T	0.76708	-0.2860	10	0.31617	T	0.26	-32.4413	14.0462	0.64706	0.0:0.9272:0.0:0.0728	.	435;556	O75110-2;O75110	.;ATP9A_HUMAN	Q	420;556;435	ENSP00000309086:R420Q;ENSP00000342481:R556Q;ENSP00000385875:R435Q	ENSP00000309086:R420Q	R	-	2	0	ATP9A	49689290	1.000000	0.71417	0.987000	0.45799	0.821000	0.46438	5.972000	0.70448	1.259000	0.44117	0.655000	0.94253	CGG		0.498	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	Missense_Mutation	T	50255883	C	T	50255883	5	4	27	1	0	0	0	0	0	0	1	0	1198	666	23	1	1532	1	ATP9A	20	50255883	Splice_Site	SNP	C	TCGA-04-1530-01A-02W-0552-10	5904776	50255883	12769637	57	1378											
SETD4	54093	hgsc.bcm.edu	37	21	37420633	37420633	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr21:37420633C>T	ENST00000399215.1	-	4	1641	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	SETD4_ENST00000332131.4_Missense_Mutation_p.R90Q|SETD4_ENST00000399207.1_Missense_Mutation_p.R90Q|SETD4_ENST00000399208.2_Missense_Mutation_p.R90Q|SETD4_ENST00000399205.1_Missense_Mutation_p.R66Q|SETD4_ENST00000399212.1_Missense_Mutation_p.R66Q|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399201.1_Missense_Mutation_p.R66Q			Q9NVD3	SETD4_HUMAN	SET domain containing 4	90	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)	p.R90Q(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TAAGTAGCTTCGAATCACTGT	0.463																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	21											386	318	341					21																	37420633		2203	4300	6503	36342503	SO:0001583	missense	54093			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.269G>A	21.37:g.37420633C>T	ENSP00000382163:p.Arg90Gln		36342503	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	5.507	0.278582	0.10403	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000446166;ENST00000442559	D;D;D;D;D;D;D;T;T;T;T	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;2.57;2.57;2.57;2.57	5.25	-0.836	0.10770	SET domain (1);	0.397866	0.27664	N	0.018362	T	0.59376	0.2189	N	0.12961	0.28	0.09310	N	1	B;B;B;B	0.21753	0.06;0.029;0.048;0.0	B;B;B;B	0.16289	0.015;0.004;0.009;0.002	T	0.43782	-0.9370	10	0.13108	T	0.6	8.0285	11.2508	0.49024	0.0:0.4034:0.0:0.5966	.	66;90;66;90	A8MTS1;C9JWV5;Q9NVD3-3;Q9NVD3	.;.;.;SETD4_HUMAN	Q	90;66;90;66;90;66;90;90;90;66;66	ENSP00000382163:R90Q;ENSP00000382161:R66Q;ENSP00000329189:R90Q;ENSP00000382156:R66Q;ENSP00000382159:R90Q;ENSP00000382152:R66Q;ENSP00000382158:R90Q;ENSP00000399998:R90Q;ENSP00000396837:R90Q;ENSP00000413318:R66Q;ENSP00000394822:R66Q	ENSP00000329189:R90Q	R	-	2	0	SETD4	36342503	0.000000	0.05858	0.057000	0.19452	0.487000	0.33371	-0.245000	0.08890	0.002000	0.14630	-1.012000	0.02466	CGA		0.463	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		T	37420633	C	T	37420633	3	4	27	1	0	0	0	0	1	0	0	0	14136	884	31	1	1104	1	SETD4	21	37420633	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10		37420633	10709262	58	1379											
DOPEY2	9980	hgsc.bcm.edu	37	21	37609580	37609580	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr21:37609580G>C	ENST00000399151.3	+	16	2728	c.2643G>C	c.(2641-2643)tgG>tgC	p.W881C		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	881					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.W881C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTGTGCTTTGGAATCAGCTGA	0.587																																																1	Substitution - Missense(1)	ovary(1)	21											103	88	93					21																	37609580		2203	4300	6503	36531450	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2643G>C	21.37:g.37609580G>C	ENSP00000382104:p.Trp881Cys		36531450	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362226	0.82353	.	.	ENSG00000142197	ENST00000399151	T	0.66280	-0.2	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84481	0.0605	10	0.87932	D	0	-2.9886	18.9768	0.92740	0.0:0.0:1.0:0.0	.	881	Q9Y3R5	DOP2_HUMAN	C	881	ENSP00000382104:W881C	ENSP00000382104:W881C	W	+	3	0	DOPEY2	36531450	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.259000	0.95561	2.489000	0.83994	0.591000	0.81541	TGG		0.587	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		C	37609580	G	C	37609580	3	2	27	1	0	0	0	0	1	0	0	0	4708	1183	41	3	2701	3	DOPEY2	21	37609580	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	188947	37609580	10520315	59	1380											
XPNPEP3	63929	hgsc.bcm.edu	37	22	41322426	41322426	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr22:41322426G>C	ENST00000357137.4	+	10	1595	c.1511G>C	c.(1510-1512)aGc>aCc	p.S504T	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.S481T	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	504					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.S504T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CAGATATGCAGCCAGGCTTCT	0.507																																					Ovarian(145;306 1841 7037 21878 30110)											1	Substitution - Missense(1)	ovary(1)	22											166	157	160					22																	41322426		2203	4300	6503	39652372	SO:0001583	missense	63929				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1511G>C	22.37:g.41322426G>C	ENSP00000349658:p.Ser504Thr		39652372	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	4.092	0.015109	0.07959	.	.	ENSG00000196236	ENST00000357137;ENST00000544094;ENST00000465561	T;T	0.79247	-1.25;-1.24	5.47	0.481	0.16809	.	0.353194	0.35838	N	0.002953	T	0.66790	0.2825	L	0.39633	1.23	0.25771	N	0.984832	B	0.12630	0.006	B	0.14023	0.01	T	0.58869	-0.7560	10	0.44086	T	0.13	-6.6776	11.7212	0.51683	0.2832:0.0:0.7168:0.0	.	504	Q9NQH7	XPP3_HUMAN	T	504;481;25	ENSP00000349658:S504T;ENSP00000441942:S481T	ENSP00000349658:S504T	S	+	2	0	XPNPEP3	39652372	1.000000	0.71417	0.747000	0.31113	0.090000	0.18270	2.058000	0.41374	0.289000	0.22422	-0.253000	0.11424	AGC		0.507	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		C	41322426	G	C	41322426	3	2	27	1	0	0	0	0	1	0	0	0	17444	971	34	3	1549	3	XPNPEP3	22	41322426	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10		41322426	9982140	60	1381											
WBP2NL	164684	hgsc.bcm.edu	37	22	42423015	42423015	+	Missense_Mutation	SNP	G	G	A	rs140763493		TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr22:42423015G>A	ENST00000328823.9	+	6	791	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	WBP2NL_ENST00000543212.1_Missense_Mutation_p.A180T	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)	p.A254T(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CGGATATGGAGCCCCACCTCT	0.602																																																1	Substitution - Missense(1)	ovary(1)	22											135	155	148					22																	42423015		2203	4300	6503	40752961	SO:0001583	missense	164684			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"postacrosomal sheath WW domain-binding protein"	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.760G>A	22.37:g.42423015G>A	ENSP00000332983:p.Ala254Thr		40752961	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538778	0.65085	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.25250	2.11;1.81	3.96	-4.41	0.03590	WW-domain-binding protein (1);	.	.	.	.	T	0.15089	0.0364	L	0.52905	1.665	0.09310	N	1	B	0.21520	0.057	B	0.15052	0.012	T	0.41052	-0.9530	9	0.09338	T	0.73	.	2.0752	0.03623	0.2389:0.3427:0.2959:0.1225	.	254	Q6ICG8	WBP2L_HUMAN	T	254;180	ENSP00000332983:A254T;ENSP00000442447:A180T	ENSP00000332983:A254T	A	+	1	0	WBP2NL	40752961	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.081000	0.11321	-0.870000	0.04047	-0.145000	0.13849	GCC		0.602	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		A	42423015	G	A	42423015	3	1	27	1	0	0	0	0	1	0	0	0	17260	971	34	2	782	2	WBP2NL	22	42423015	Missense_Mutation	SNP	G	TCGA-04-1530-01A-02W-0552-10	1100589	42423015	8881551	61	1382											
SCUBE1	80274	hgsc.bcm.edu	37	22	43604161	43604161	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chr22:43604161C>T	ENST00000360835.4	-	20	2777	c.2651G>A	c.(2650-2652)cGc>cAc	p.R884H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	884	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.R884H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTTGCGGGAGCGGGAGGTGAA	0.562																																																1	Substitution - Missense(1)	ovary(1)	22											246	209	222					22																	43604161		2203	4300	6503	41934105	SO:0001583	missense	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2651G>A	22.37:g.43604161C>T	ENSP00000354080:p.Arg884His		41934105	Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798975	0.90538	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.18338	2.22	3.76	3.76	0.43208	CUB (5);	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.18023	-1.0350	10	0.87932	D	0	.	16.1153	0.81302	0.0:1.0:0.0:0.0	.	884	Q8IWY4	SCUB1_HUMAN	H	884;514	ENSP00000354080:R884H	ENSP00000354080:R884H	R	-	2	0	SCUBE1	41934105	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.553000	0.82203	2.102000	0.63906	0.313000	0.20887	CGC		0.562	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		T	43604161	C	T	43604161	3	4	27	1	0	0	0	0	1	0	0	0	13947	768	27	1	327	1	SCUBE1	22	43604161	Missense_Mutation	SNP	C	TCGA-04-1530-01A-02W-0552-10	1181146	43604161	7700405	62	1383											
MAGEB1	4112	hgsc.bcm.edu	37	X	30268730	30268730	+	Silent	SNP	C	C	G	rs199978505		TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chrX:30268730C>G	ENST00000378981.3	+	4	441	c.120C>G	c.(118-120)tcC>tcG	p.S40S	MAGEB1_ENST00000397550.1_Silent_p.S40S|MAGEB1_ENST00000397548.2_Silent_p.S40S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	40								p.S40S(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGTGCCCCTCCTCCTCTCCTG	0.617													C|||	2	0.000529801	0	0.0014	3775	,	,		13991	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	X											42	32	35					X																	30268730		2202	4299	6501	30178651	SO:0001819	synonymous_variant	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.120C>G	X.37:g.30268730C>G			30178651	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	CCDS14222.1																																																																																				0.617	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		G	30268730	C	G	30268730	2	3	27	1	0	0	0	0	0	0	0	1	9172	668	24	3		3	MAGEB1	23	30268730	Silent	SNP	C	TCGA-04-1530-01A-02W-0552-10		30268730	125001830	63	1384											
MAOA	4128	hgsc.bcm.edu	37	X	43603056	43603061	+	In_Frame_Del	DEL	CGTGGG	CGTGGG	-			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	CGTGGG	CGTGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chrX:43603056_43603061delCGTGGG	ENST00000338702.3	+	13	1401_1406	c.1278_1283delCGTGGG	c.(1276-1284)cccgtgggc>ccc	p.VG427del	MAOA_ENST00000542639.1_In_Frame_Del_p.VG294del	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	427					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)	p.V427_G428delVG(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	TTCGTCAACCCGTGGGCAGGATTTTC	0.544																																																1	Deletion - In frame(1)	ovary(1)	X																																								43488005	SO:0001651	inframe_deletion	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.1278_1283delCGTGGG	X.37:g.43603056_43603061delCGTGGG	ENSP00000340684:p.Val427_Gly428del		43488000	B4DF46|Q16426	In_Frame_Del	DEL	ENST00000338702.3	37	CCDS14260.1																																																																																				0.544	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		-	43603061	CGTGGG	-	43603056	7	5	27	1	0	1	0	1	0	0	0	0	9225	639	23	0	1328	0	MAOA	23	43603056	In_Frame_Del	DEL	CGTGGG	TCGA-04-1530-01A-02W-0552-10	13334326	43603056	111667504	64	1385											
FOXP3	50943	hgsc.bcm.edu	37	X	49113978	49113978	+	Silent	SNP	C	C	T			TCGA-04-1530-01A-02W-0552-10	TCGA-04-1530-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	f5637a61-4fb7-4401-aecf-02f196d197f0	19f5c528-089f-4983-aee5-e995e51d2cf9	g.chrX:49113978C>T	ENST00000376207.4	-	4	547	c.360G>A	c.(358-360)gtG>gtA	p.V120V	FOXP3_ENST00000376199.2_Silent_p.V85V|FOXP3_ENST00000518685.1_Silent_p.V85V|FOXP3_ENST00000557224.1_Silent_p.V85V|FOXP3_ENST00000455775.2_Silent_p.V120V|FOXP3_ENST00000376197.1_Silent_p.V70V	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	120					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V120V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CCAGGGGGTGCACCTGCAGCA	0.677																																					GBM(182;1432 2112 16160 23073 31774)											1	Substitution - coding silent(1)	ovary(1)	X											53	46	49					X																	49113978		2200	4299	6499	49000922	SO:0001819	synonymous_variant	50943				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.360G>A	X.37:g.49113978C>T			49000922	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Silent	SNP	ENST00000376207.4	37	CCDS14323.1																																																																																				0.677	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		T	49113978	C	T	49113978	2	4	27	1	0	0	0	0	0	0	0	1	6028	697	25	2		2	FOXP3	23	49113978	Silent	SNP	C	TCGA-04-1530-01A-02W-0552-10	5510922	49113978	106156582	65	1386											
PLOD1	5351	genome.wustl.edu	37	1	12016982	12016982	+	Missense_Mutation	SNP	G	G	A	rs372534520		TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr1:12016982G>A	ENST00000196061.4	+	7	679	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	PLOD1_ENST00000376369.3_Missense_Mutation_p.V265M|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	218					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.V218M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AGATGAGGTCGTGCTCAAGTT	0.597																																																1	Substitution - Missense(1)	ovary(1)	1						G	MET/VAL	0,4406		0,0,2203	156	129	138		652	4.2	0.9	1		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLOD1	NM_000302.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	218/728	12016982	1,13005	2203	4300	6503	11939569	SO:0001583	missense	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.652G>A	1.37:g.12016982G>A	ENSP00000196061:p.Val218Met		11939569	B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252949	0.80135	0.0	1.16E-4	ENSG00000083444	ENST00000376369;ENST00000196061	T;T	0.24151	1.87;1.87	4.22	4.22	0.49857	.	0.067021	0.64402	D	0.000014	T	0.48660	0.1512	M	0.78637	2.42	0.58432	D	0.999998	D;P	0.76494	0.999;0.855	P;B	0.61201	0.885;0.17	T	0.53711	-0.8400	10	0.49607	T	0.09	.	15.775	0.78207	0.0:0.0:1.0:0.0	.	265;218	B4DR87;Q02809	.;PLOD1_HUMAN	M	265;218	ENSP00000365548:V265M;ENSP00000196061:V218M	ENSP00000196061:V218M	V	+	1	0	PLOD1	11939569	1.000000	0.71417	0.915000	0.36163	0.982000	0.71751	7.749000	0.85096	2.191000	0.70037	0.561000	0.74099	GTG		0.597	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		A	12016982	G	A	12016982	3	1	28	1	0	0	0	0	1	0	0	0	12101	1145	40	1	678	1	PLOD1	1	12016982	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09		12016982	237233639	1	1387											
IL12RB2	3595	genome.wustl.edu	37	1	67787504	67787504	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr1:67787504T>G	ENST00000262345.1	+	3	936	c.296T>G	c.(295-297)tTt>tGt	p.F99C	IL12RB2_ENST00000371000.1_Missense_Mutation_p.F99C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.F99C|IL12RB2_ENST00000544434.1_Missense_Mutation_p.F99C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	99					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.F99C(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACAACCTTGTTTGTCTGCAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											168	161	163					1																	67787504		2203	4300	6503	67560092	SO:0001583	missense	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.296T>G	1.37:g.67787504T>G	ENSP00000262345:p.Phe99Cys		67560092	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403371	0.42613	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.95	5.95	0.96441	Immunoglobulin C2-set-like, ligand-binding (1);	0.144837	0.64402	D	0.000005	T	0.77864	0.4194	L	0.36672	1.1	0.45914	D	0.998751	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	P;D;D;D	0.76575	0.905;0.988;0.946;0.977	T	0.80672	-0.1278	10	0.52906	T	0.07	-28.3087	12.8126	0.57647	0.0:0.0:0.0:1.0	.	99;99;99;99	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	C	99	ENSP00000262345:F99C;ENSP00000360039:F99C;ENSP00000445276:F99C;ENSP00000442443:F99C	ENSP00000262345:F99C	F	+	2	0	IL12RB2	67560092	0.996000	0.38824	0.961000	0.40146	0.005000	0.04900	3.848000	0.55903	2.274000	0.75844	0.528000	0.53228	TTT		0.393	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		G	67787504	T	G	67787504	3	3	28	1	0	0	0	0	1	0	0	0	7627	1841	64	5	302	5	IL12RB2	1	67787504	Missense_Mutation	SNP	T	TCGA-04-1542-01A-01W-0553-09	55770522	67787504	181463117	2	1388											
SASS6	163786	genome.wustl.edu	37	1	100573197	100573197	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr1:100573197G>A	ENST00000287482.5	-	10	1273	c.1133C>T	c.(1132-1134)gCa>gTa	p.A378V	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.A211V	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	378					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.A378V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAGAAGTTCTGCAGATAATGA	0.254																																																1	Substitution - Missense(1)	ovary(1)	1											40	44	42					1																	100573197		2197	4281	6478	100345785	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1133C>T	1.37:g.100573197G>A	ENSP00000287482:p.Ala378Val		100345785	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635890	0.67130	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.78481	-1.18;-1.18	5.64	5.64	0.86602	.	0.150547	0.64402	D	0.000020	T	0.70500	0.3231	L	0.59436	1.845	0.43036	D	0.994616	P	0.47762	0.9	B	0.42522	0.39	T	0.70974	-0.4726	10	0.33141	T	0.24	-8.1079	19.6985	0.96043	0.0:0.0:1.0:0.0	.	378	Q6UVJ0	SAS6_HUMAN	V	378;351;211	ENSP00000287482:A378V;ENSP00000440169:A211V	ENSP00000287482:A378V	A	-	2	0	SASS6	100345785	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.620000	0.67736	2.650000	0.89964	0.585000	0.79938	GCA		0.254	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		A	100573197	G	A	100573197	3	1	28	1	0	0	0	0	1	0	0	0	13853	1319	46	2	872	2	SASS6	1	100573197	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	32785693	100573197	148677424	3	1389											
MOV10	4343	genome.wustl.edu	37	1	113239067	113239067	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr1:113239067C>T	ENST00000413052.2	+	13	2282	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L	MOV10_ENST00000369645.1_Missense_Mutation_p.S631L|MOV10_ENST00000369644.1_Missense_Mutation_p.S575L|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.S631L	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	631					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.S631L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGGTTGGTCTCGGCCCAGTTT	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											114	105	108					1																	113239067		2203	4300	6503	113040590	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1892C>T	1.37:g.113239067C>T	ENSP00000399797:p.Ser631Leu		113040590	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890196	0.72524	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.18	4.26	0.50523	.	0.187386	0.48767	D	0.000166	T	0.53174	0.1780	L	0.39633	1.23	0.80722	D	1	P	0.43231	0.801	B	0.41571	0.36	T	0.61950	-0.6957	10	0.06494	T	0.89	-6.3065	14.7902	0.69837	0.1456:0.8544:0.0:0.0	.	631	Q9HCE1	MOV10_HUMAN	L	631;631;575;631;569	ENSP00000399797:S631L;ENSP00000358659:S631L;ENSP00000358658:S575L;ENSP00000350028:S631L	ENSP00000350028:S631L	S	+	2	0	MOV10	113040590	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	7.211000	0.77933	1.378000	0.46305	0.655000	0.94253	TCG		0.567	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		T	113239067	C	T	113239067	3	4	28	1	0	0	0	0	1	0	0	0	9718	893	31	1	1938	1	MOV10	1	113239067	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	12665870	113239067	136011554	4	1390											
LHX9	56956	genome.wustl.edu	37	1	197887071	197887071	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr1:197887071A>G	ENST00000367387.4	+	1	543	c.118A>G	c.(118-120)Aga>Gga	p.R40G	LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367391.1_Missense_Mutation_p.R31G|LHX9_ENST00000561173.1_Missense_Mutation_p.R46G|LHX9_ENST00000367390.3_Missense_Mutation_p.R31G|LHX9_ENST00000337020.2_Missense_Mutation_p.R40G	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	40					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R40G(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GATGGAGCGCAGATCCAAGAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	1											88	89	89					1																	197887071		2203	4300	6503	196153694	SO:0001583	missense	56956			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.118A>G	1.37:g.197887071A>G	ENSP00000356357:p.Arg40Gly		196153694	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.438126	0.62955	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000367388;ENST00000337020;ENST00000367387	T;D;T;D	0.89617	0.39;-2.54;0.34;-2.54	5.06	2.64	0.31445	.	0.000000	0.85682	D	0.000000	D	0.92251	0.7542	L	0.59436	1.845	0.54753	D	0.999983	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.987;0.999	D	0.91296	0.5063	10	0.72032	D	0.01	.	12.1768	0.54190	0.5592:0.4408:0.0:0.0	.	40;31;31	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	G	31;31;83;40;40	ENSP00000356361:R31G;ENSP00000356360:R31G;ENSP00000337969:R40G;ENSP00000356357:R40G	ENSP00000337969:R40G	R	+	1	2	LHX9	196153694	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.018000	0.30002	0.312000	0.23038	-0.313000	0.08912	AGA		0.667	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		G	197887071	A	G	197887071	3	3	28	1	0	0	0	0	1	0	0	0	8777	180	7	4	152	4	LHX9	1	197887071	Missense_Mutation	SNP	A	TCGA-04-1542-01A-01W-0553-09	84648004	197887071	51363550	5	1391											
ESRRG	2104	genome.wustl.edu	37	1	216850648	216850648	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr1:216850648G>A	ENST00000408911.3	-	2	395	c.242C>T	c.(241-243)tCg>tTg	p.S81L	ESRRG_ENST00000366938.2_Missense_Mutation_p.S58L|ESRRG_ENST00000493748.1_Missense_Mutation_p.S58L|ESRRG_ENST00000463665.1_Missense_Mutation_p.S58L|ESRRG_ENST00000361525.3_Missense_Mutation_p.S58L|ESRRG_ENST00000366937.1_Missense_Mutation_p.S86L|ESRRG_ENST00000391890.3_Missense_Mutation_p.S58L|ESRRG_ENST00000360012.3_Missense_Mutation_p.S58L|ESRRG_ENST00000359162.2_Missense_Mutation_p.S58L|ESRRG_ENST00000366940.2_Missense_Mutation_p.S58L|ESRRG_ENST00000361395.2_Missense_Mutation_p.S58L|ESRRG_ENST00000487276.1_Missense_Mutation_p.S58L|ESRRG_ENST00000493603.1_Missense_Mutation_p.S58L	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	81					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S81L(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GAGAGGTGGCGAGTCAAGTCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											169	147	155					1																	216850648		2203	4300	6503	214917271	SO:0001583	missense	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.242C>T	1.37:g.216850648G>A	ENSP00000386171:p.Ser81Leu		214917271	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	36	5.934263	0.97122	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.95447	-3.25;-3.25;-3.26;-3.28;-3.25;-3.25;-3.25;-3.25;-3.25;-3.28;-3.71;-3.25;-3.25;-3.08;-0.06	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.965;0.997;0.994	P;D;P	0.69479	0.506;0.964;0.885	D	0.96583	0.9432	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	58;86;81	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	L	58;58;86;81;58;58;58;58;58;58;58;58;58;58;58;58	ENSP00000355225:S58L;ENSP00000355907:S58L;ENSP00000355904:S86L;ENSP00000386171:S81L;ENSP00000352077:S58L;ENSP00000354584:S58L;ENSP00000355905:S58L;ENSP00000353108:S58L;ENSP00000419594:S58L;ENSP00000375761:S58L;ENSP00000418629:S58L;ENSP00000419155:S58L;ENSP00000417374:S58L;ENSP00000419514:S58L;ENSP00000417900:S58L	ENSP00000346386:S58L	S	-	2	0	ESRRG	214917271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	TCG		0.562	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		A	216850648	G	A	216850648	3	1	28	1	0	0	0	0	1	0	0	0	5262	1059	37	1	1158	1	ESRRG	1	216850648	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	18963577	216850648	32399973	6	1392											
NLRP3	114548	genome.wustl.edu	37	1	247587724	247587724	+	Missense_Mutation	SNP	C	C	G	rs180177500		TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr1:247587724C>G	ENST00000336119.3	+	3	1725	c.979C>G	c.(979-981)Cgg>Ggg	p.R327G	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R327G|NLRP3_ENST00000366496.2_Missense_Mutation_p.R327G|NLRP3_ENST00000348069.2_Missense_Mutation_p.R327G|NLRP3_ENST00000366497.2_Missense_Mutation_p.R327G|NLRP3_ENST00000391827.2_Missense_Mutation_p.R327G	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	327	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.R327G(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGGCCGAGCGGGGAGACAT	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											59	60	60					1																	247587724		2203	4300	6503	245654347	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.979C>G	1.37:g.247587724C>G	ENSP00000337383:p.Arg327Gly		245654347	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548478	0.27652	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	4.04	-1.86	0.07760	NACHT nucleoside triphosphatase (1);	0.309232	0.23247	N	0.050290	T	0.75583	0.3869	L	0.38175	1.15	0.09310	N	1	B;B;P;B;P	0.50272	0.312;0.439;0.933;0.373;0.457	B;B;P;B;P	0.49708	0.199;0.412;0.62;0.261;0.499	T	0.72200	-0.4362	10	0.72032	D	0.01	.	12.4489	0.55667	0.7157:0.2843:0.0:0.0	.	327;327;327;327;327	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	G	327	ENSP00000375704:R327G;ENSP00000355453:R327G;ENSP00000337383:R327G;ENSP00000294752:R327G;ENSP00000355452:R327G;ENSP00000375703:R327G	ENSP00000337383:R327G	R	+	1	2	NLRP3	245654347	0.001000	0.12720	0.002000	0.10522	0.827000	0.46813	0.291000	0.18994	-0.309000	0.08779	0.563000	0.77884	CGG		0.582	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		G	247587724	C	G	247587724	3	3	28	1	0	0	0	0	1	0	0	0	10478	759	27	3	989	3	NLRP3	1	247587724	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	30737076	247587724	1662897	7	1393											
FEZ2	9637	genome.wustl.edu	37	2	36805938	36805938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr2:36805938G>T	ENST00000405912.3	-	5	704	c.705C>A	c.(703-705)taC>taA	p.Y235*	FEZ2_ENST00000379245.4_Nonsense_Mutation_p.Y235*|FEZ2_ENST00000305852.7_Nonsense_Mutation_p.Y64*	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	235					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)			p.Y235*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GCTCCTCAGAGTACTCCTTAA	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	2											90	89	89					2																	36805938		1925	4148	6073	36659442	SO:0001587	stop_gained	9637			U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.705C>A	2.37:g.36805938G>T	ENSP00000385112:p.Tyr235*		36659442	Q5EBN3|Q76LN0|Q99690	Nonsense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.574021|7.574021	0.98368|0.98368	.|.	.|.	ENSG00000171055|ENSG00000171055	ENST00000441005|ENST00000379245;ENST00000305852;ENST00000405912;ENST00000357996	.|.	.|.	.|.	6.17|6.17	2.48|2.48	0.30137|0.30137	.|.	.|0.168122	.|0.53938	.|D	.|0.000043	T|.	0.21631|.	0.0521|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37314|.	-0.9711|.	3|.	.|0.02654	.|T	.|1	8.7589|8.7589	8.5607|8.5607	0.33509|0.33509	0.4452:0.0:0.5548:0.0|0.4452:0.0:0.5548:0.0	.|.	.|.	.|.	.|.	I|X	37|235;64;235;134	.|.	.|ENSP00000305843:Y64X	L|Y	-|-	1|3	0|2	FEZ2|FEZ2	36659442|36659442	1.000000|1.000000	0.71417|0.71417	0.923000|0.923000	0.36655|0.36655	0.808000|0.808000	0.45660|0.45660	2.157000|2.157000	0.42320|0.42320	0.198000|0.198000	0.20407|0.20407	-0.768000|-0.768000	0.03414|0.03414	CTC|TAC		0.398	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			T	36805938	G	T	36805938	4	4	28	1	0	0	0	0	0	1	0	0	5824	1024	36	3	457	3	FEZ2	2	36805938	Nonsense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09		36805938	206393435	8	1394											
SLC5A7	60482	genome.wustl.edu	37	2	108622654	108622654	+	Silent	SNP	A	A	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr2:108622654A>C	ENST00000264047.2	+	7	1167	c.891A>C	c.(889-891)tcA>tcC	p.S297S	SLC5A7_ENST00000540517.1_Silent_p.S192S|SLC5A7_ENST00000409059.1_Silent_p.S297S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	297					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.S297S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTGGAGCATCAACAGGTAAAT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	2											97	92	94					2																	108622654		2203	4300	6503	107989086	SO:0001819	synonymous_variant	60482			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.891A>C	2.37:g.108622654A>C			107989086	Q53TF2	Silent	SNP	ENST00000264047.2	37	CCDS2074.1																																																																																				0.542	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			C	108622654	A	C	108622654	2	2	28	1	0	0	0	0	0	0	0	1	14673	117	5	5		5	SLC5A7	2	108622654	Silent	SNP	A	TCGA-04-1542-01A-01W-0553-09	71816716	108622654	134576719	9	1395											
PDE11A	50940	genome.wustl.edu	37	2	178879078	178879078	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr2:178879078G>A	ENST00000286063.6	-	2	1339	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	AC011998.1_ENST00000457053.1_RNA|PDE11A_ENST00000358450.4_Missense_Mutation_p.A91V	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	341	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.A341V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTTATTTATCGCTTGGGCCAC	0.373									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							1	Substitution - Missense(1)	ovary(1)	2											155	143	147					2																	178879078		2203	4300	6503	178587324	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1022C>T	2.37:g.178879078G>A	ENSP00000286063:p.Ala341Val		178587324	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662056	0.29515	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000431253	T;T	0.65549	-0.16;-0.16	5.36	5.36	0.76844	GAF (2);	0.047751	0.85682	D	0.000000	T	0.42177	0.1191	N	0.02775	-0.495	0.80722	D	1	D;P	0.55800	0.973;0.854	P;B	0.47705	0.555;0.324	T	0.48043	-0.9069	10	0.02654	T	1	.	18.4349	0.90642	0.0:0.0:1.0:0.0	.	91;341	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	V	341;91;16	ENSP00000286063:A341V;ENSP00000351232:A91V	ENSP00000286063:A341V	A	-	2	0	PDE11A	178587324	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.813000	0.99286	2.663000	0.90544	0.467000	0.42956	GCG		0.373	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			A	178879078	G	A	178879078	3	1	28	1	0	0	0	0	1	0	0	0	11631	1087	38	1	1855	1	PDE11A	2	178879078	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	70256424	178879078	64320295	10	1396											
TTN	7273	genome.wustl.edu	37	2	179395650	179395650	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr2:179395650G>A	ENST00000591111.1	-	308	100993	c.100769C>T	c.(100768-100770)cCa>cTa	p.P33590L	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P35231L|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32663L|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26358L|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26291L|TTN_ENST00000460472.2_Missense_Mutation_p.P26166L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33590					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P26166L(1)|p.P32661L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTCTTGGTGGTGATGTCAC	0.473																																																2	Substitution - Missense(2)	ovary(2)	2											148	146	146					2																	179395650		1890	4101	5991	179103896	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100769C>T	2.37:g.179395650G>A	ENSP00000465570:p.Pro33590Leu		179103896	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.144510	0.77888	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70045	-0.45;-0.08;-0.1;-0.12	4.99	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.70552	0.3237	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.63880	0.986;0.986;0.986;0.993	P;P;P;P	0.56216	0.593;0.593;0.593;0.794	T	0.75102	-0.3436	9	0.87932	D	0	.	18.2867	0.90117	0.0:0.0:1.0:0.0	.	26166;26291;26358;33590	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	32663;26166;26358;26291;26163	ENSP00000343764:P32663L;ENSP00000434586:P26166L;ENSP00000340554:P26358L;ENSP00000352154:P26291L	ENSP00000340554:P26358L	P	-	2	0	TTN	179103896	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.061000	0.71148	2.321000	0.78463	0.455000	0.32223	CCA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179395650	G	A	179395650	3	1	28	1	0	0	0	0	1	0	0	0	16735	1348	47	2	2307	2	TTN	2	179395650	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	516572	179395650	63803723	11	1397											
TTN	7273	genome.wustl.edu	37	2	179615844	179615844	+	Intron	SNP	C	C	T	rs200816462		TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr2:179615844C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Silent_p.K3761K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K3761K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGATCTACCTTATAACTTT	0.363																																																1	Substitution - coding silent(1)	ovary(1)	2											83	84	84					2																	179615844		2201	4295	6496	179324089	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2006G>A	2.37:g.179615844C>T			179324089	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179615844	C	T	179615844	1	4	28	0	1	0	0	0	0	0	0	0	16735	680	24	2		2	TTN	2	179615844	Intron	SNP	C	TCGA-04-1542-01A-01W-0553-09	220194	179615844	63583529	12	1398											
COL3A1	1281	genome.wustl.edu	37	2	189856241	189856241	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr2:189856241G>A	ENST00000304636.3	+	12	1051	c.881G>A	c.(880-882)gGa>gAa	p.G294E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G294E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	294	Triple-helical region.			NGA -> DGS (in Ref. 11; AA sequence). {ECO:0000305}.	aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G294E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGCGAAAATGGAGCTCCTGGA	0.313																																																1	Substitution - Missense(1)	ovary(1)	2											65	69	68					2																	189856241		2203	4300	6503	189564486	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.881G>A	2.37:g.189856241G>A	ENSP00000304408:p.Gly294Glu		189564486	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049310	0.75846	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99619	-6.28;-6.28	5.93	5.93	0.95920	.	0.000000	0.46758	D	0.000276	D	0.99802	0.9915	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97321	0.9944	10	0.72032	D	0.01	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	294	P02461	CO3A1_HUMAN	E	294	ENSP00000304408:G294E;ENSP00000315243:G294E	ENSP00000304408:G294E	G	+	2	0	COL3A1	189564486	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.814000	0.96858	0.591000	0.81541	GGA		0.313	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		A	189856241	G	A	189856241	3	1	28	1	0	0	0	0	1	0	0	0	3688	1174	41	2	927	2	COL3A1	2	189856241	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	10240397	189856241	53343132	13	1399											
KIAA1486	57624	genome.wustl.edu	37	2	226273703	226273703	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr2:226273703T>C	ENST00000272907.6	+	2	520	c.107T>C	c.(106-108)aTt>aCt	p.I36T	NYAP2_ENST00000409269.2_Missense_Mutation_p.I36T	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	36					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.I36T(1)									GGCTTGGTTATTCAGAATGCG	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											135	121	125					2																	226273703		1892	4119	6011	225981947	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.107T>C	2.37:g.226273703T>C	ENSP00000272907:p.Ile36Thr		225981947	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262967	0.59431	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	T	0.46819	0.86	5.92	5.92	0.95590	.	0.219310	0.36374	N	0.002636	T	0.45915	0.1366	L	0.45698	1.435	0.38927	D	0.957866	P;B	0.37731	0.607;0.42	B;B	0.37650	0.255;0.09	T	0.51826	-0.8656	10	0.59425	D	0.04	-20.4203	16.3594	0.83251	0.0:0.0:0.0:1.0	.	36;36	Q9P242-2;Q9P242	.;K1486_HUMAN	T	36	ENSP00000272907:I36T	ENSP00000272907:I36T	I	+	2	0	KIAA1486	225981947	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.437000	0.52863	2.266000	0.75297	0.455000	0.32223	ATT		0.418	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		C	226273703	T	C	226273703	3	2	28	1	0	0	0	0	1	0	0	0	8237	1493	52	4	109	4	KIAA1486	2	226273703	Missense_Mutation	SNP	T	TCGA-04-1542-01A-01W-0553-09	36417462	226273703	16925670	14	1400											
CCDC36	339834	genome.wustl.edu	37	3	49294667	49294667	+	Silent	SNP	T	T	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr3:49294667T>C	ENST00000438782.1	+	8	1973	c.1737T>C	c.(1735-1737)aaT>aaC	p.N579N	RP11-3B7.1_ENST00000440528.3_5'Flank|CCDC36_ENST00000296449.5_Silent_p.N579N|CCDC36_ENST00000452691.2_Silent_p.N579N			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	579								p.N569N(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGGAAAGAATTTGCTCTATG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	3											158	166	163					3																	49294667		2203	4300	6503	49269671	SO:0001819	synonymous_variant	339834			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"cancer/testis antigen 74"						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1737T>C	3.37:g.49294667T>C			49269671	C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	37	CCDS33755.2																																																																																				0.478	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		C	49294667	T	C	49294667	2	2	28	1	0	0	0	0	0	0	0	1	2808	1490	52	4		4	CCDC36	3	49294667	Silent	SNP	T	TCGA-04-1542-01A-01W-0553-09		49294667	148727763	15	1401											
RBM6	10180	genome.wustl.edu	37	3	50103789	50103789	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr3:50103789C>G	ENST00000266022.4	+	17	3056	c.2797C>G	c.(2797-2799)Ccc>Gcc	p.P933A	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.P275A|RBM6_ENST00000443081.1_Missense_Mutation_p.P801A|RBM6_ENST00000442092.1_Missense_Mutation_p.P411A|RBM6_ENST00000422955.1_Missense_Mutation_p.P411A|RBM6_ENST00000421682.1_5'Flank	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	933					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P933A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CACAGCACAGCCCCAGAAGCG	0.532																																																1	Substitution - Missense(1)	ovary(1)	3											96	104	101					3																	50103789		2203	4300	6503	50078793	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2797C>G	3.37:g.50103789C>G	ENSP00000266022:p.Pro933Ala		50078793	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797562	0.31777	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.47869	0.83;1.38;1.38;0.9;0.83	5.94	5.06	0.68205	.	0.301982	0.31519	N	0.007505	T	0.39759	0.1090	L	0.43152	1.355	0.58432	D	0.999998	B	0.25719	0.132	B	0.17098	0.017	T	0.13602	-1.0503	9	.	.	.	-2.4958	15.5433	0.76074	0.0:0.9327:0.0:0.0673	.	933	P78332	RBM6_HUMAN	A	411;933;801;275;411	ENSP00000393530:P411A;ENSP00000266022:P933A;ENSP00000396466:P801A;ENSP00000443165:P275A;ENSP00000392939:P411A	.	P	+	1	0	RBM6	50078793	0.946000	0.32159	0.992000	0.48379	0.126000	0.20510	1.831000	0.39141	2.812000	0.96745	0.655000	0.94253	CCC		0.532	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		G	50103789	C	G	50103789	3	3	28	1	0	0	0	0	1	0	0	0	13147	739	26	3	2859	3	RBM6	3	50103789	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	809122	50103789	147918641	16	1402											
SHOX2	6474	genome.wustl.edu	37	3	157820642	157820642	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr3:157820642G>A	ENST00000425436.3	-	2	405	c.380C>T	c.(379-381)gCg>gTg	p.A127V	SHOX2_ENST00000483851.2_Missense_Mutation_p.A127V|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.A151V|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000490689.2_5'UTR	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	127					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A151V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CATCCCTTTCGCATCCTCTTT	0.567																																																1	Substitution - Missense(1)	ovary(1)	3											152	128	136					3																	157820642		2203	4300	6503	159303336	SO:0001583	missense	6474			AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.380C>T	3.37:g.157820642G>A	ENSP00000398704:p.Ala127Val		159303336	O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225816	0.39300	.	.	ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000389589;ENST00000483851	T;D;D	0.93763	1.56;-3.28;-3.28	5.47	5.47	0.80525	Homeodomain-related (1);	0.378221	0.25419	N	0.030810	T	0.77519	0.4142	N	0.01168	-0.975	0.80722	D	1	B;B;B	0.34181	0.44;0.102;0.004	B;B;B	0.25759	0.063;0.012;0.004	T	0.80072	-0.1535	10	0.11182	T	0.66	.	12.6431	0.56720	0.0758:0.0:0.9242:0.0	.	127;151;127	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	V	151;127;127	ENSP00000398704:A151V;ENSP00000374240:A127V;ENSP00000419362:A127V	ENSP00000374240:A127V	A	-	2	0	SHOX2;AC112502.1	159303336	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	2.823000	0.48081	2.567000	0.86603	0.643000	0.83706	GCG		0.567	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			A	157820642	G	A	157820642	3	1	28	1	0	0	0	0	1	0	0	0	14292	1087	38	1	631	1	SHOX2	3	157820642	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	107716853	157820642	40201788	17	1403											
SLITRK3	22865	genome.wustl.edu	37	3	164906265	164906265	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr3:164906265G>A	ENST00000475390.1	-	2	2797	c.2354C>T	c.(2353-2355)cCg>cTg	p.P785L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P785L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	785					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P785L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACCCATTCCCGGTGGTTGTGT	0.552										HNSCC(40;0.11)																																						1	Substitution - Missense(1)	ovary(1)	3											87	93	91					3																	164906265		2203	4300	6503	166388959	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2354C>T	3.37:g.164906265G>A	ENSP00000420091:p.Pro785Leu		166388959	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275349	0.23307	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54279	0.58;0.58	5.44	5.44	0.79542	.	0.215496	0.23543	N	0.047051	T	0.29783	0.0744	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09552	-1.0669	10	0.21540	T	0.41	-0.9216	10.0662	0.42306	0.0882:0.0:0.9118:0.0	.	785	O94933	SLIK3_HUMAN	L	785	ENSP00000420091:P785L;ENSP00000241274:P785L	ENSP00000241274:P785L	P	-	2	0	SLITRK3	166388959	0.618000	0.27051	0.046000	0.18839	0.531000	0.34715	1.995000	0.40767	2.832000	0.97577	0.655000	0.94253	CCG		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		A	164906265	G	A	164906265	3	1	28	1	0	0	0	0	1	0	0	0	14747	1116	39	1	583	1	SLITRK3	3	164906265	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	7085623	164906265	33116165	18	1404											
TBC1D1	23216	genome.wustl.edu	37	4	37904125	37904125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr4:37904125C>T	ENST00000261439.4	+	2	764	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.Q137*|TBC1D1_ENST00000402522.1_Nonsense_Mutation_p.Q137*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	137					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.Q137*(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGCCGATGATCAAACAAAAGT	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	4											45	48	47					4																	37904125		2203	4300	6503	37580520	SO:0001587	stop_gained	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.409C>T	4.37:g.37904125C>T	ENSP00000261439:p.Gln137*		37580520	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Nonsense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	39	7.885283	0.98542	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000402522	.	.	.	5.96	5.96	0.96718	.	0.000000	0.47455	D	0.000232	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-23.6087	20.0044	0.97430	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000261439:Q137X	Q	+	1	0	TBC1D1	37580520	1.000000	0.71417	0.995000	0.50966	0.901000	0.52897	5.503000	0.66962	2.830000	0.97506	0.585000	0.79938	CAA		0.408	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		T	37904125	C	T	37904125	4	4	28	1	0	0	0	0	0	1	0	0	15597	827	29	2	411	2	TBC1D1	4	37904125	Nonsense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09		37904125	153250151	19	1405											
SLC30A9	10463	genome.wustl.edu	37	4	42020141	42020141	+	Silent	SNP	C	C	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr4:42020141C>T	ENST00000264451.7	+	3	468	c.288C>T	c.(286-288)ggC>ggT	p.G96G		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	96					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G96G(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGGTATAGGCACAGAACTCA	0.264																																																1	Substitution - coding silent(1)	ovary(1)	4											37	39	38					4																	42020141		2202	4294	6496	41714898	SO:0001819	synonymous_variant	10463			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.288C>T	4.37:g.42020141C>T			41714898	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	CCDS3465.1																																																																																				0.264	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			T	42020141	C	T	42020141	2	4	28	1	0	0	0	0	0	0	0	1	14565	697	25	2		2	SLC30A9	4	42020141	Silent	SNP	C	TCGA-04-1542-01A-01W-0553-09	4116016	42020141	149134135	20	1406											
FAM105A	54491	genome.wustl.edu	37	5	14609106	14609106	+	Missense_Mutation	SNP	G	G	A	rs181133009	byFrequency	TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr5:14609106G>A	ENST00000274217.3	+	7	997	c.877G>A	c.(877-879)Gac>Aac	p.D293N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	293	OTU.							p.D293N(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TTCTGTAGGCGACACATGTGG	0.458													G|||	4	0.000798722	0	0	5008	,	,		19242	0.004		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5											157	161	159					5																	14609106		2203	4300	6503	14662106	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.877G>A	5.37:g.14609106G>A	ENSP00000274217:p.Asp293Asn		14662106	Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	CCDS3884.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.28	1.590714	0.28357	.	.	ENSG00000145569	ENST00000274217	T	0.16073	2.37	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.37348	0.1000	L	0.53249	1.67	0.38229	D	0.940987	D	0.89917	1.0	D	0.87578	0.998	T	0.11916	-1.0568	10	0.22706	T	0.39	-25.1344	18.3844	0.90462	0.0:0.0:1.0:0.0	.	293	Q9NUU6	F105A_HUMAN	N	293	ENSP00000274217:D293N	ENSP00000274217:D293N	D	+	1	0	FAM105A	14662106	1.000000	0.71417	0.902000	0.35471	0.019000	0.09904	4.731000	0.62022	2.327000	0.79052	0.650000	0.86243	GAC		0.458	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		A	14609106	G	A	14609106	3	1	28	1	0	0	0	0	1	0	0	0	5387	1058	37	1	903	1	FAM105A	5	14609106	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09		14609106	166306154	21	1407											
DRD1	1812	genome.wustl.edu	37	5	174869877	174869877	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr5:174869877G>T	ENST00000393752.2	-	2	1218	c.226C>A	c.(226-228)Ctg>Atg	p.L76M		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	76					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.L76M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCATGACCAGGACGGCCACC	0.562																																																1	Substitution - Missense(1)	ovary(1)	5											83	69	74					5																	174869877		2203	4300	6503	174802483	SO:0001583	missense	1812			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.226C>A	5.37:g.174869877G>T	ENSP00000377353:p.Leu76Met		174802483	B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307824	0.23821	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.74947	-0.89	5.55	-4.88	0.03113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	M	0.91249	3.19	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.85436	0.1152	10	0.46703	T	0.11	.	13.4862	0.61366	0.4844:0.0:0.5156:0.0	.	76	P21728	DRD1_HUMAN	M	76	ENSP00000377353:L76M	ENSP00000327652:L76M	L	-	1	2	DRD1	174802483	0.957000	0.32711	0.398000	0.26321	0.103000	0.19146	0.842000	0.27627	-0.821000	0.04312	-1.053000	0.02334	CTG		0.562	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		T	174869877	G	T	174869877	3	4	28	1	0	0	0	0	1	0	0	0	4756	991	35	3	1118	3	DRD1	5	174869877	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	160260771	174869877	6045383	22	1408											
PRPF4B	8899	genome.wustl.edu	37	6	4032298	4032298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr6:4032298C>T	ENST00000337659.6	+	2	647	c.547C>T	c.(547-549)Cga>Tga	p.R183*	PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.R169*	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	183	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R183*(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TACAAAGAAACGAAGTAAAAG	0.348																																																1	Substitution - Nonsense(1)	ovary(1)	6											94	106	102					6																	4032298		2202	4298	6500	3977297	SO:0001587	stop_gained	8899			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.547C>T	6.37:g.4032298C>T	ENSP00000337194:p.Arg183*		3977297	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Nonsense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	36	5.848124	0.97023	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	.	.	.	5.35	3.5	0.40072	.	0.104901	0.41097	D	0.000960	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5323	0.39202	0.3762:0.4856:0.1382:0.0	.	.	.	.	X	183;169	.	ENSP00000337194:R183X	R	+	1	2	PRPF4B	3977297	0.887000	0.30362	0.996000	0.52242	0.947000	0.59692	0.516000	0.22817	0.576000	0.29452	0.462000	0.41574	CGA		0.348	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			T	4032298	C	T	4032298	4	4	28	1	0	0	0	0	0	1	0	0	12576	528	19	1	553	1	PRPF4B	6	4032298	Nonsense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09		4032298	167082769	23	1409											
KIF13A	63971	genome.wustl.edu	37	6	17834246	17834246	+	Silent	SNP	T	T	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr6:17834246T>C	ENST00000259711.6	-	12	1317	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	KIF13A_ENST00000378843.2_Silent_p.K404K|KIF13A_ENST00000378814.5_Silent_p.K404K|KIF13A_ENST00000378816.5_Silent_p.K404K|KIF13A_ENST00000378826.2_Silent_p.K404K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	404					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K404K(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTGTTAGTTCTTTTATCAGCT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	6											143	130	134					6																	17834246		1834	4082	5916	17942225	SO:0001819	synonymous_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1212A>G	6.37:g.17834246T>C			17942225	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	CCDS47381.1																																																																																				0.373	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			C	17834246	T	C	17834246	2	2	28	1	0	0	0	0	0	0	0	1	8274	1606	56	4		4	KIF13A	6	17834246	Silent	SNP	T	TCGA-04-1542-01A-01W-0553-09	13801948	17834246	153280821	24	1410											
NOTCH4	4855	genome.wustl.edu	37	6	32188309	32188309	+	Silent	SNP	C	C	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr6:32188309C>G	ENST00000375023.3	-	6	1170	c.1032G>C	c.(1030-1032)gtG>gtC	p.V344V		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	344	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.V344V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCCAGCCACTCACACACACGC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	6											104	103	103					6																	32188309		1511	2709	4220	32296287	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1032G>C	6.37:g.32188309C>G			32296287	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1																																																																																				0.602	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			G	32188309	C	G	32188309	2	3	28	1	0	0	0	0	0	0	0	1	10551	813	29	3		3	NOTCH4	6	32188309	Silent	SNP	C	TCGA-04-1542-01A-01W-0553-09	14354063	32188309	138926758	25	1411											
C6orf142	90523	genome.wustl.edu	37	6	53989392	53989392	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr6:53989392A>G	ENST00000274897.5	+	3	454	c.341A>G	c.(340-342)aAc>aGc	p.N114S	MLIP_ENST00000509997.1_Missense_Mutation_p.N62S|MLIP_ENST00000370877.2_Missense_Mutation_p.N62S|MLIP_ENST00000370876.2_Missense_Mutation_p.N52S|MLIP_ENST00000502396.1_Missense_Mutation_p.N125S|MLIP_ENST00000358276.5_Missense_Mutation_p.N108S|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Missense_Mutation_p.N114S	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	114						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.N114S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TTCGAAGCAAACAAACTTCAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	6											115	110	112					6																	53989392		2203	4300	6503	54097351	SO:0001583	missense	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.341A>G	6.37:g.53989392A>G	ENSP00000274897:p.Asn114Ser		54097351	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817156	0.32145	.	.	ENSG00000146147	ENST00000505762;ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T;T;T;T;T	0.45668	2.28;1.96;1.94;1.96;1.53;0.89;1.97;1.55;1.96	5.48	3.06	0.35304	.	0.890469	0.09990	N	0.729800	T	0.12475	0.0303	L	0.38531	1.155	0.09310	N	1	B;P;P;B;B	0.41131	0.004;0.629;0.739;0.016;0.05	B;B;B;B;B	0.36464	0.007;0.16;0.225;0.02;0.031	T	0.09907	-1.0653	10	0.30854	T	0.27	0.1516	4.9526	0.14023	0.7174:0.1885:0.0941:0.0	.	125;125;52;114;114	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	S	91;114;114;62;62;52;73;125;108;115	ENSP00000274897:N114S;ENSP00000425142:N114S;ENSP00000359914:N62S;ENSP00000427584:N62S;ENSP00000359913:N52S;ENSP00000426830:N73S;ENSP00000426290:N125S;ENSP00000351019:N108S;ENSP00000421444:N115S	ENSP00000274897:N114S	N	+	2	0	MLIP	54097351	0.001000	0.12720	0.017000	0.16124	0.824000	0.46624	0.481000	0.22260	0.868000	0.35678	0.533000	0.62120	AAC		0.448	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		G	53989392	A	G	53989392	3	3	28	1	0	0	0	0	1	0	0	0	2333	43	2	4	351	4	C6orf142	6	53989392	Missense_Mutation	SNP	A	TCGA-04-1542-01A-01W-0553-09	21801083	53989392	117125675	26	1412											
KIAA1919	91749	genome.wustl.edu	37	6	111587906	111587906	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr6:111587906C>A	ENST00000368847.4	+	4	1494	c.1141C>A	c.(1141-1143)Cct>Act	p.P381T		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	381					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.P381T(1)		large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGGAAAATACCCTGATTTGCC	0.413																																																1	Substitution - Missense(1)	ovary(1)	6											118	122	121					6																	111587906		2203	4300	6503	111694599	SO:0001583	missense	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1141C>A	6.37:g.111587906C>A	ENSP00000357840:p.Pro381Thr		111694599	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676135	0.47886	.	.	ENSG00000173214	ENST00000368847	T	0.80738	-1.41	5.92	5.05	0.67936	Major facilitator superfamily domain, general substrate transporter (1);	0.260868	0.43919	D	0.000513	T	0.81361	0.4806	M	0.62723	1.935	0.40986	D	0.984813	D	0.54772	0.968	P	0.54664	0.758	T	0.81450	-0.0927	10	0.48119	T	0.1	-9.4291	14.5218	0.67856	0.0:0.9302:0.0:0.0698	.	381	Q5TF39	NAGT1_HUMAN	T	381	ENSP00000357840:P381T	ENSP00000357840:P381T	P	+	1	0	KIAA1919	111694599	0.098000	0.21812	0.394000	0.26270	0.125000	0.20455	2.655000	0.46707	2.806000	0.96561	0.551000	0.68910	CCT		0.413	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		A	111587906	C	A	111587906	3	1	28	1	0	0	0	0	1	0	0	0	8262	623	22	3	1155	3	KIAA1919	6	111587906	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	57598514	111587906	59527161	27	1413											
DLL1	28514	genome.wustl.edu	37	6	170597385	170597385	+	Silent	SNP	A	A	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr6:170597385A>G	ENST00000366756.3	-	4	945	c.612T>C	c.(610-612)tgT>tgC	p.C204C	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	204	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.C204C(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CACGCTCCCCACAGGTGAAGT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	6											73	62	65					6																	170597385		2203	4300	6503	170439310	SO:0001819	synonymous_variant	28514			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.612T>C	6.37:g.170597385A>G			170439310	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	CCDS5313.1																																																																																				0.607	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			G	170597385	A	G	170597385	2	3	28	1	0	0	0	0	0	0	0	1	4566	157	6	4		4	DLL1	6	170597385	Silent	SNP	A	TCGA-04-1542-01A-01W-0553-09	59009479	170597385	517682	28	1414											
MACC1	346389	genome.wustl.edu	37	7	20199641	20199641	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr7:20199641A>T	ENST00000400331.5	-	5	651	c.343T>A	c.(343-345)Tcc>Acc	p.S115T	MACC1_ENST00000589011.1_Missense_Mutation_p.S115T|MACC1_ENST00000332878.4_Missense_Mutation_p.S115T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	115					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S115T(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TCACCGGAGGAATCAAAAGAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	7											47	46	46					7																	20199641		2203	4300	6503	20166166	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.343T>A	7.37:g.20199641A>T	ENSP00000383185:p.Ser115Thr		20166166	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055927	0.36277	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10005	2.92;2.92	5.97	4.83	0.62350	.	0.052421	0.85682	D	0.000000	T	0.11623	0.0283	L	0.49126	1.545	0.46609	D	0.99912	B	0.22909	0.077	B	0.18871	0.023	T	0.05037	-1.0910	10	0.33141	T	0.24	-3.2097	12.0577	0.53544	0.9329:0.0:0.0671:0.0	.	115	Q6ZN28	MACC1_HUMAN	T	115	ENSP00000383185:S115T;ENSP00000328410:S115T	ENSP00000328410:S115T	S	-	1	0	MACC1	20166166	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.038000	0.64177	1.087000	0.41251	0.477000	0.44152	TCC		0.333	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		T	20199641	A	T	20199641	3	4	28	1	0	0	0	0	1	0	0	0	9143	246	9	5	2227	5	MACC1	7	20199641	Missense_Mutation	SNP	A	TCGA-04-1542-01A-01W-0553-09		20199641	138939022	29	1415											
DTX2	113878	genome.wustl.edu	37	7	76111908	76111908	+	Missense_Mutation	SNP	G	G	T	rs146593354		TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr7:76111908G>T	ENST00000324432.5	+	5	862	c.352G>T	c.(352-354)Gat>Tat	p.D118Y	DTX2_ENST00000446600.1_Missense_Mutation_p.D27Y|DTX2_ENST00000446820.2_Missense_Mutation_p.D118Y|DTX2_ENST00000430490.2_Missense_Mutation_p.D118Y|DTX2_ENST00000307569.8_Missense_Mutation_p.D118Y|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000413936.2_Missense_Mutation_p.D118Y	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	118	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D118Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCTGAGCGACGATGGCTCCTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	7											52	51	51					7																	76111908		2203	4300	6503	75949844	SO:0001583	missense	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.352G>T	7.37:g.76111908G>T	ENSP00000322885:p.Asp118Tyr		75949844	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.053588	0.55218	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000423646;ENST00000430490;ENST00000446820	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.41	5.41	0.78517	WWE domain (2);WWE domain, subgroup (1);	0.054241	0.64402	D	0.000001	T	0.55784	0.1942	L	0.40543	1.245	0.45946	D	0.998773	D;D;D	0.63046	0.992;0.992;0.978	P;P;D	0.65010	0.805;0.886;0.931	T	0.55347	-0.8155	10	0.54805	T	0.06	-18.442	18.1599	0.89705	0.0:0.0:1.0:0.0	.	27;118;118	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	Y	118;118;27;27;118;118;118;118	ENSP00000322885:D118Y;ENSP00000305242:D118Y;ENSP00000397648:D27Y;ENSP00000390218:D118Y;ENSP00000415838:D118Y;ENSP00000411986:D118Y;ENSP00000392545:D118Y	ENSP00000305242:D118Y	D	+	1	0	AC005522.1	75949844	1.000000	0.71417	0.954000	0.39281	0.247000	0.25773	6.399000	0.73248	2.552000	0.86080	0.561000	0.74099	GAT		0.617	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			T	76111908	G	T	76111908	3	4	28	1	0	0	0	0	1	0	0	0	4794	1058	37	3	358	3	DTX2	7	76111908	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	55912267	76111908	83026755	30	1416											
ZC3HAV1	56829	genome.wustl.edu	37	7	138768734	138768734	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr7:138768734G>T	ENST00000242351.5	-	3	805	c.489C>A	c.(487-489)aaC>aaA	p.N163K	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.N163K|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.N163K	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	163	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.N163K(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GTGGCTGCTGGTTACAAATCT	0.488																																																1	Substitution - Missense(1)	ovary(1)	7											111	106	108					7																	138768734		2203	4300	6503	138419274	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.489C>A	7.37:g.138768734G>T	ENSP00000242351:p.Asn163Lys		138419274	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	5.367	0.253034	0.10185	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.50277	0.75;0.75;0.75	4.5	0.525	0.17072	.	1.249470	0.05360	N	0.533559	T	0.33644	0.0870	N	0.26042	0.785	0.09310	N	1	B;B	0.27416	0.178;0.007	B;B	0.28011	0.085;0.01	T	0.29181	-1.0020	10	0.40728	T	0.16	.	4.674	0.12703	0.205:0.3736:0.4214:0.0	.	163;163	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	K	163	ENSP00000242351:N163K;ENSP00000418385:N163K;ENSP00000419855:N163K	ENSP00000242351:N163K	N	-	3	2	ZC3HAV1	138419274	0.000000	0.05858	0.047000	0.18901	0.020000	0.10135	-0.443000	0.06862	0.219000	0.20840	-0.140000	0.14226	AAC		0.488	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		T	138768734	G	T	138768734	3	4	28	1	0	0	0	0	1	0	0	0	17575	1252	44	3	2267	3	ZC3HAV1	7	138768734	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	62656826	138768734	20369929	31	1417											
CNTNAP2	26047	genome.wustl.edu	37	7	147844669	147844669	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr7:147844669C>A	ENST00000361727.3	+	17	3157	c.2641C>A	c.(2641-2643)Cag>Aag	p.Q881K	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	881	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.Q881K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACGATGACCAGTGGCACCG	0.567										HNSCC(39;0.1)																																						1	Substitution - Missense(1)	ovary(1)	7											128	119	122					7																	147844669		2203	4300	6503	147475602	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2641C>A	7.37:g.147844669C>A	ENSP00000354778:p.Gln881Lys		147475602	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919165	0.73098	.	.	ENSG00000174469	ENST00000361727	T	0.78126	-1.15	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.75019	0.3793	L	0.49778	1.585	0.80722	D	1	B	0.25048	0.117	B	0.28011	0.085	T	0.71090	-0.4693	10	0.36615	T	0.2	.	17.6488	0.88157	0.0:1.0:0.0:0.0	.	881	Q9UHC6	CNTP2_HUMAN	K	881	ENSP00000354778:Q881K	ENSP00000354778:Q881K	Q	+	1	0	CNTNAP2	147475602	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.988000	0.70579	2.507000	0.84556	0.561000	0.74099	CAG		0.567	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	147844669	C	A	147844669	3	1	28	1	0	0	0	0	1	0	0	0	3647	595	21	3	2707	3	CNTNAP2	7	147844669	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	9075935	147844669	11293994	32	1418											
PDIA4	9601	genome.wustl.edu	37	7	148701101	148701101	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr7:148701101G>C	ENST00000286091.4	-	10	1955	c.1723C>G	c.(1723-1725)Caa>Gaa	p.Q575E		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	575	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.Q575E(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGGCCCTTTTGGCCCTTGTAC	0.612																																																1	Substitution - Missense(1)	ovary(1)	7											114	112	113					7																	148701101		2203	4300	6503	148332034	SO:0001583	missense	9601			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1723C>G	7.37:g.148701101G>C	ENSP00000286091:p.Gln575Glu		148332034	A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	G	4.567	0.105291	0.08731	.	.	ENSG00000155660	ENST00000286091	T	0.15256	2.44	5.81	5.81	0.92471	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.326309	0.35320	N	0.003283	T	0.04724	0.0128	N	0.00510	-1.415	0.30536	N	0.766912	B	0.02656	0.0	B	0.01281	0.0	T	0.11792	-1.0573	10	0.02654	T	1	.	15.4157	0.74966	0.0:0.2437:0.7563:0.0	.	575	P13667	PDIA4_HUMAN	E	575	ENSP00000286091:Q575E	ENSP00000286091:Q575E	Q	-	1	0	PDIA4	148332034	1.000000	0.71417	0.971000	0.41717	0.963000	0.63663	3.617000	0.54181	2.751000	0.94390	0.555000	0.69702	CAA		0.612	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		C	148701101	G	C	148701101	3	2	28	1	0	0	0	0	1	0	0	0	11670	1357	47	3	218	3	PDIA4	7	148701101	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	856432	148701101	10437562	33	1419											
MYBL1	4603	genome.wustl.edu	37	8	67492549	67492549	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr8:67492549A>G	ENST00000522677.3	-	9	1330	c.920T>C	c.(919-921)aTg>aCg	p.M307T	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.M307T	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	307	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)	p.M307T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AGTATTAGACATGTTATCATC	0.383																																																1	Substitution - Missense(1)	ovary(1)	8											67	64	65					8																	67492549		1878	4110	5988	67655103	SO:0001583	missense	4603			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.920T>C	8.37:g.67492549A>G	ENSP00000429633:p.Met307Thr		67655103	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724869	0.30593	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.16743	2.8;2.32	5.34	5.34	0.76211	.	0.166422	0.56097	D	0.000032	T	0.16642	0.0400	L	0.50333	1.59	0.41698	D	0.98938	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.06807	-1.0806	10	0.09843	T	0.71	-4.7883	15.3103	0.74026	1.0:0.0:0.0:0.0	.	307;306;307	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	T	307	ENSP00000429633:M307T;ENSP00000428011:M307T	ENSP00000429633:M307T	M	-	2	0	MYBL1	67655103	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.924000	0.63418	2.007000	0.58848	0.533000	0.62120	ATG		0.383	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		G	67492549	A	G	67492549	3	3	28	1	0	0	0	0	1	0	0	0	10009	217	8	4	1370	4	MYBL1	8	67492549	Missense_Mutation	SNP	A	TCGA-04-1542-01A-01W-0553-09		67492549	78871473	34	1420											
VPS13B	157680	genome.wustl.edu	37	8	100128073	100128073	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr8:100128073A>G	ENST00000358544.2	+	7	1019	c.908A>G	c.(907-909)cAt>cGt	p.H303R	VPS13B_ENST00000395996.1_Missense_Mutation_p.H303R|VPS13B_ENST00000357162.2_Missense_Mutation_p.H303R|VPS13B_ENST00000355155.1_Missense_Mutation_p.H303R|VPS13B_ENST00000441350.2_Missense_Mutation_p.H303R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	303					protein transport (GO:0015031)			p.H303R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTACTTGTCATAATAAAGAT	0.299																																					Colon(161;2205 2542 7338 31318)											1	Substitution - Missense(1)	ovary(1)	8											67	69	68					8																	100128073		2203	4296	6499	100197249	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.908A>G	8.37:g.100128073A>G	ENSP00000351346:p.His303Arg		100197249	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.299077	0.23650	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.82433	-1.03;-0.32;-0.32;-0.03;-1.61	5.65	3.25	0.37280	.	0.339565	0.27451	N	0.019317	T	0.64114	0.2569	N	0.22421	0.69	0.29101	N	0.881461	P;B;B;B;B	0.34757	0.467;0.112;0.256;0.095;0.078	B;B;B;B;B	0.31547	0.132;0.015;0.086;0.023;0.033	T	0.54323	-0.8311	10	0.18710	T	0.47	.	3.2179	0.06705	0.6424:0.1406:0.0737:0.1433	.	303;303;303;303;303	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	R	303	ENSP00000347281:H303R;ENSP00000349685:H303R;ENSP00000351346:H303R;ENSP00000379318:H303R;ENSP00000398472:H303R	ENSP00000347281:H303R	H	+	2	0	VPS13B	100197249	0.980000	0.34600	0.997000	0.53966	0.775000	0.43874	2.275000	0.43399	0.940000	0.37473	0.533000	0.62120	CAT		0.299	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100128073	A	G	100128073	3	3	28	1	0	0	0	0	1	0	0	0	17190	217	8	4	930	4	VPS13B	8	100128073	Missense_Mutation	SNP	A	TCGA-04-1542-01A-01W-0553-09	32635524	100128073	46235949	35	1421											
SVEP1	79987	genome.wustl.edu	37	9	113312349	113312349	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr9:113312349T>A	ENST00000401783.2	-	2	903	c.567A>T	c.(565-567)aaA>aaT	p.K189N	SVEP1_ENST00000467821.1_5'Flank|SVEP1_ENST00000374469.1_Missense_Mutation_p.K166N|SVEP1_ENST00000302728.8_Missense_Mutation_p.K189N|SVEP1_ENST00000374461.1_Missense_Mutation_p.K166N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	189	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.K189N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAATACAACTTTTGTTGAGT	0.418																																																1	Substitution - Missense(1)	ovary(1)	9											194	193	193					9																	113312349		1889	4114	6003	112352170	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.567A>T	9.37:g.113312349T>A	ENSP00000384917:p.Lys189Asn		112352170	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505903	0.64410	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.5	4.34	0.51931	von Willebrand factor, type A (3);	0.046806	0.85682	D	0.000000	D	0.92593	0.7647	M	0.84326	2.69	0.36633	D	0.876382	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.979;0.964	D	0.94282	0.7521	10	0.87932	D	0	.	9.299	0.37833	0.0:0.1922:0.0:0.8078	.	189;189;189	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	N	189;166;189;166	ENSP00000384917:K189N;ENSP00000363593:K166N;ENSP00000304118:K189N;ENSP00000363585:K166N	ENSP00000304118:K189N	K	-	3	2	SVEP1	112352170	1.000000	0.71417	0.997000	0.53966	0.682000	0.39822	1.298000	0.33412	2.209000	0.71365	0.460000	0.39030	AAA		0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113312349	T	A	113312349	3	1	28	1	0	0	0	0	1	0	0	0	15420	1606	56	5	10336	5	SVEP1	9	113312349	Missense_Mutation	SNP	T	TCGA-04-1542-01A-01W-0553-09		113312349	27901082	36	1422											
MYO3A	53904	genome.wustl.edu	37	10	26463391	26463391	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr10:26463391C>T	ENST00000265944.5	+	30	4364	c.4198C>T	c.(4198-4200)Cat>Tat	p.H1400Y	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1400					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H1400Y(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCCCACAAAACATGAGGAAAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	10											117	116	117					10																	26463391		2203	4300	6503	26503397	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4198C>T	10.37:g.26463391C>T	ENSP00000265944:p.His1400Tyr		26503397	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	0.705	-0.789474	0.02884	.	.	ENSG00000095777	ENST00000265944	T	0.78126	-1.15	5.94	-0.792	0.10925	.	1.064600	0.07094	N	0.839192	T	0.53012	0.1770	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40021	-0.9585	10	0.52906	T	0.07	.	0.1972	0.00141	0.2966:0.2704:0.1587:0.2743	.	1400	Q8NEV4	MYO3A_HUMAN	Y	1400	ENSP00000265944:H1400Y	ENSP00000265944:H1400Y	H	+	1	0	MYO3A	26503397	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-0.238000	0.08977	-0.103000	0.12175	0.563000	0.77884	CAT		0.368	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26463391	C	T	26463391	3	4	28	1	0	0	0	0	1	0	0	0	10076	478	17	2	4308	2	MYO3A	10	26463391	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09		26463391	109071356	37	1423											
BICC1	80114	genome.wustl.edu	37	10	60549098	60549098	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr10:60549098C>A	ENST00000373886.3	+	7	681	c.677C>A	c.(676-678)cCc>cAc	p.P226H		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	226					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.P226H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCTAATTCCCCCTCTATTCAG	0.408																																																1	Substitution - Missense(1)	ovary(1)	10											145	137	139					10																	60549098		2203	4300	6503	60219104	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.677C>A	10.37:g.60549098C>A	ENSP00000362993:p.Pro226His		60219104		Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081892	0.55861	.	.	ENSG00000122870	ENST00000373886	T	0.35605	1.3	5.66	5.66	0.87406	.	0.047390	0.85682	D	0.000000	T	0.41143	0.1146	M	0.67397	2.05	0.80722	D	1	B	0.15930	0.015	B	0.17433	0.018	T	0.26883	-1.0090	10	0.62326	D	0.03	-14.3127	16.0833	0.81020	0.1343:0.8657:0.0:0.0	.	226	Q9H694	BICC1_HUMAN	H	226	ENSP00000362993:P226H	ENSP00000362993:P226H	P	+	2	0	BICC1	60219104	1.000000	0.71417	0.976000	0.42696	0.834000	0.47266	5.848000	0.69458	2.665000	0.90641	0.655000	0.94253	CCC		0.408	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		A	60549098	C	A	60549098	3	1	28	1	0	0	0	0	1	0	0	0	1427	623	22	3	703	3	BICC1	10	60549098	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	34085707	60549098	74985649	38	1424											
ENTPD1	953	genome.wustl.edu	37	10	97624620	97624620	+	Splice_Site	SNP	T	T	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr10:97624620T>C	ENST00000371205.4	+	9	1609		c.e9+2		RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Splice_Site|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-248J23.7_ENST00000491114.1_Splice_Site|ENTPD1_ENST00000371203.5_Splice_Site|ENTPD1_ENST00000371207.3_Splice_Site|ENTPD1_ENST00000539125.1_Splice_Site|ENTPD1_ENST00000453258.2_Splice_Site|ENTPD1-AS1_ENST00000451364.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.?(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ATTGGCAAGGTAATTTGGGGG	0.512																																																1	Unknown(1)	ovary(1)	10											71	62	65					10																	97624620		2203	4300	6503	97614610	SO:0001630	splice_region_variant	953			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1326+2T>C	10.37:g.97624620T>C			97614610	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Splice_Site	SNP	ENST00000371205.4	37	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583506	0.65992	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1881	0.59693	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENTPD1	97614610	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.976000	0.76135	2.212000	0.71576	0.533000	0.62120	.		0.512	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776	Intron	C	97624620	T	C	97624620	5	2	28	1	0	0	0	0	0	0	1	0	5138	1652	57	4	1459	4	ENTPD1	10	97624620	Splice_Site	SNP	T	TCGA-04-1542-01A-01W-0553-09	37075522	97624620	37910127	39	1425											
TCERG1L	256536	genome.wustl.edu	37	10	132932675	132932675	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr10:132932675C>G	ENST00000368642.4	-	8	1311	c.1226G>C	c.(1225-1227)aGg>aCg	p.R409T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	409								p.R368T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTGGTCTTCCCTGTTGTCTTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	10											125	98	107					10																	132932675		2203	4298	6501	132822665	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1226G>C	10.37:g.132932675C>G	ENSP00000357631:p.Arg409Thr		132822665	Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	2.710	-0.268956	0.05716	.	.	ENSG00000176769	ENST00000368642	T	0.22945	1.93	3.66	0.541	0.17168	.	0.945998	0.08791	N	0.893227	T	0.15522	0.0374	N	0.24115	0.695	0.09310	N	1	B	0.20164	0.042	B	0.16289	0.015	T	0.35450	-0.9788	10	0.15066	T	0.55	1.7859	9.2223	0.37384	0.5758:0.4242:0.0:0.0	.	409	Q5VWI1	TCRGL_HUMAN	T	409	ENSP00000357631:R409T	ENSP00000357631:R409T	R	-	2	0	TCERG1L	132822665	0.007000	0.16637	0.000000	0.03702	0.006000	0.05464	0.240000	0.18042	0.112000	0.17975	-0.293000	0.09583	AGG		0.488	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		G	132932675	C	G	132932675	3	3	28	1	0	0	0	0	1	0	0	0	15686	681	24	3	554	3	TCERG1L	10	132932675	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	35308055	132932675	2602072	40	1426											
KCNA4	3739	genome.wustl.edu	37	11	30032817	30032817	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr11:30032817G>T	ENST00000328224.6	-	2	2642	c.1409C>A	c.(1408-1410)aCc>aAc	p.T470N	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	470					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.T470N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GGCTCTGAGGGTGTGGCCCAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	11											54	58	57					11																	30032817		2091	4250	6341	29989393	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1409C>A	11.37:g.30032817G>T	ENSP00000328511:p.Thr470Asn		29989393		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884916	0.72410	.	.	ENSG00000182255	ENST00000328224	D	0.98455	-4.94	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98908	1.0779	10	0.87932	D	0	.	19.563	0.95380	0.0:0.0:1.0:0.0	.	470	P22459	KCNA4_HUMAN	N	470	ENSP00000328511:T470N	ENSP00000328511:T470N	T	-	2	0	KCNA4	29989393	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.869000	0.99810	2.619000	0.88677	0.650000	0.86243	ACC		0.527	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		T	30032817	G	T	30032817	3	4	28	1	0	0	0	0	1	0	0	0	8005	1261	44	3	556	3	KCNA4	11	30032817	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09		30032817	104973699	41	1427											
DAGLA	747	genome.wustl.edu	37	11	61508800	61508800	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr11:61508800A>C	ENST00000257215.5	+	19	2266	c.2150A>C	c.(2149-2151)gAc>gCc	p.D717A		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	717					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D717A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCGACTGCAGACCACCGCAAC	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											42	37	38					11																	61508800		2202	4299	6501	61265376	SO:0001583	missense	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2150A>C	11.37:g.61508800A>C	ENSP00000257215:p.Asp717Ala		61265376	A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.448002	0.26074	.	.	ENSG00000134780	ENST00000257215	T	0.25085	1.82	3.88	2.71	0.32032	.	0.533161	0.20766	N	0.086067	T	0.13500	0.0327	N	0.22421	0.69	0.29569	N	0.850063	B	0.13594	0.008	B	0.09377	0.004	T	0.24012	-1.0172	10	0.15066	T	0.55	-7.5637	6.6088	0.22739	0.7877:0.0:0.2123:0.0	.	717	Q9Y4D2	DGLA_HUMAN	A	717	ENSP00000257215:D717A	ENSP00000257215:D717A	D	+	2	0	DAGLA	61265376	1.000000	0.71417	0.075000	0.20258	0.709000	0.40893	4.787000	0.62432	0.619000	0.30197	0.374000	0.22700	GAC		0.632	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		C	61508800	A	C	61508800	3	2	28	1	0	0	0	0	1	0	0	0	4226	275	10	5	2220	5	DAGLA	11	61508800	Missense_Mutation	SNP	A	TCGA-04-1542-01A-01W-0553-09	31475983	61508800	73497716	42	1428											
BCL9L	283149	genome.wustl.edu	37	11	118772414	118772414	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr11:118772414G>A	ENST00000334801.3	-	6	3002	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	680					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.R680W(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCTGGTGCCGCAGCAGCTCC	0.652																																																1	Substitution - Missense(1)	ovary(1)	11											36	36	36					11																	118772414		2200	4294	6494	118277624	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2038C>T	11.37:g.118772414G>A	ENSP00000335320:p.Arg680Trp		118277624	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719857	0.48728	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.66815	-0.23	4.67	2.64	0.31445	.	0.000000	0.40640	N	0.001044	T	0.74756	0.3758	L	0.47716	1.5	0.48185	D	0.999604	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.75303	-0.3365	10	0.72032	D	0.01	-21.2041	12.896	0.58099	0.0:0.0:0.6744:0.3256	.	675;680	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	W	680;643;680;680	ENSP00000335320:R680W	ENSP00000335320:R680W	R	-	1	2	BCL9L	118277624	0.996000	0.38824	1.000000	0.80357	0.779000	0.44077	0.923000	0.28757	0.464000	0.27142	0.313000	0.20887	CGG		0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		A	118772414	G	A	118772414	3	1	28	1	0	0	0	0	1	0	0	0	1382	1086	38	1	2473	1	BCL9L	11	118772414	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	57263614	118772414	16234102	43	1429											
SLCO1C1	53919	genome.wustl.edu	37	12	20890097	20890097	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr12:20890097G>A	ENST00000266509.2	+	11	1807	c.1439G>A	c.(1438-1440)tGc>tAc	p.C480Y	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.C431Y|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.C480Y|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.C362Y|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.C480Y	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	480	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.C480Y(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AACTCAAGATGCAAATGTTCA	0.388																																																1	Substitution - Missense(1)	ovary(1)	12											96	89	92					12																	20890097		2203	4300	6503	20781364	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1439G>A	12.37:g.20890097G>A	ENSP00000266509:p.Cys480Tyr		20781364	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276070	0.80580	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.02	5.02	0.67125	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88017	0.2766	10	0.72032	D	0.01	.	17.0689	0.86568	0.0:0.0:1.0:0.0	.	362;431;480;480	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	Y	480;431;480;480;362	ENSP00000444149:C480Y;ENSP00000438665:C431Y;ENSP00000266509:C480Y;ENSP00000370964:C480Y;ENSP00000444527:C362Y	ENSP00000266509:C480Y	C	+	2	0	SLCO1C1	20781364	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.795000	0.91872	2.770000	0.95276	0.650000	0.86243	TGC		0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		A	20890097	G	A	20890097	3	1	28	1	0	0	0	0	1	0	0	0	14728	1319	46	2	1477	2	SLCO1C1	12	20890097	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09		20890097	112961798	44	1430											
SCN8A	6334	genome.wustl.edu	37	12	52145297	52145297	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr12:52145297G>A	ENST00000354534.6	+	14	2468	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I	SCN8A_ENST00000545061.1_Missense_Mutation_p.V764I|SCN8A_ENST00000550891.1_Missense_Mutation_p.V764I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	764					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.V764I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CATCTGCATCGTCCTGAATAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	12											170	162	165					12																	52145297		2042	4212	6254	50431564	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2290G>A	12.37:g.52145297G>A	ENSP00000346534:p.Val764Ile		50431564	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347016	0.82022	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	M	0.66939	2.045	0.80722	D	1	P;B;D	0.61080	0.893;0.195;0.989	B;B;P	0.47744	0.436;0.035;0.556	D	0.97406	0.9999	10	0.72032	D	0.01	.	18.2096	0.89866	0.0:0.0:1.0:0.0	.	764;764;764	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	I	764;764;764;764;677	ENSP00000448415:V764I;ENSP00000346534:V764I;ENSP00000440360:V764I;ENSP00000347255:V764I	ENSP00000346534:V764I	V	+	1	0	SCN8A	50431564	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	7.860000	0.86993	2.617000	0.88574	0.650000	0.86243	GTC		0.443	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		A	52145297	G	A	52145297	3	1	28	1	0	0	0	0	1	0	0	0	13927	1145	40	1	2340	1	SCN8A	12	52145297	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	31255200	52145297	81706598	45	1431											
NALCN	259232	genome.wustl.edu	37	13	102030996	102030996	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr13:102030996A>C	ENST00000251127.6	-	4	381	c.300T>G	c.(298-300)agT>agG	p.S100R	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.S100R|NALCN_ENST00000376200.5_Missense_Mutation_p.S100R	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	100					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S100R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCACATAGGAACTATCCCCCT	0.294																																																1	Substitution - Missense(1)	ovary(1)	13											89	92	91					13																	102030996		2203	4299	6502	100828997	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.300T>G	13.37:g.102030996A>C	ENSP00000251127:p.Ser100Arg		100828997	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	5.526	0.281925	0.10458	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98264	-4.83;-4.83;-4.83	5.57	4.18	0.49190	Ion transport (1);	0.294916	0.43416	D	0.000567	D	0.90065	0.6897	N	0.01250	-0.93	0.39722	D	0.971481	B;B	0.13594	0.008;0.001	B;B	0.17979	0.02;0.004	D	0.83699	0.0181	10	0.13853	T	0.58	.	7.1975	0.25862	0.7134:0.0:0.2866:0.0	.	100;100	F2Z323;Q8IZF0	.;NALCN_HUMAN	R	100	ENSP00000251127:S100R;ENSP00000365367:S100R;ENSP00000365373:S100R	ENSP00000251127:S100R	S	-	3	2	NALCN	100828997	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	4.183000	0.58317	0.751000	0.32900	0.482000	0.46254	AGT		0.294	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		C	102030996	A	C	102030996	3	2	28	1	0	0	0	0	1	0	0	0	10148	40	2	5	5080	5	NALCN	13	102030996	Missense_Mutation	SNP	A	TCGA-04-1542-01A-01W-0553-09		102030996	13138882	46	1432											
ITGBL1	9358	genome.wustl.edu	37	13	102220075	102220075	+	Silent	SNP	G	G	A	rs369818869		TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr13:102220075G>A	ENST00000376180.3	+	3	561	c.342G>A	c.(340-342)aaG>aaA	p.K114K	ITGBL1_ENST00000545560.2_5'UTR|ITGBL1_ENST00000376162.3_Silent_p.K21K	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	114	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.K114K(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTGTGGCAAGTGCAAGTGTG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	13						G		1,4405	2.1+/-5.4	0,1,2202	232	202	212		342	3.7	1	13		212	0,8600		0,0,4300	no	coding-synonymous	ITGBL1	NM_004791.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		114/495	102220075	1,13005	2203	4300	6503	101018076	SO:0001819	synonymous_variant	9358			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.342G>A	13.37:g.102220075G>A			101018076	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	CCDS9499.1																																																																																				0.423	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		A	102220075	G	A	102220075	2	1	28	1	0	0	0	0	0	0	0	1	7902	1020	36	2		2	ITGBL1	13	102220075	Silent	SNP	G	TCGA-04-1542-01A-01W-0553-09	189079	102220075	12949803	47	1433											
ZNF828	283489	genome.wustl.edu	37	13	115089582	115089582	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr13:115089582G>C	ENST00000361283.1	+	3	574	c.265G>C	c.(265-267)Gac>Cac	p.D89H		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	89					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D89H(1)									TGCATCCCCAGACAAATGGAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	13											74	71	72					13																	115089582		2203	4300	6503	114107684	SO:0001583	missense	283489			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.265G>C	13.37:g.115089582G>C	ENSP00000354730:p.Asp89His		114107684	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607360	0.66558	.	.	ENSG00000198824	ENST00000361283	T	0.01335	5.0	5.96	5.96	0.96718	.	0.320888	0.26324	N	0.025037	T	0.02304	0.0071	N	0.24115	0.695	0.42507	D	0.992956	P	0.45212	0.853	P	0.45856	0.495	T	0.73424	-0.3987	9	.	.	.	-1.9711	20.3928	0.98949	0.0:0.0:1.0:0.0	.	89	Q96JM3	ZN828_HUMAN	H	89	ENSP00000354730:D89H	.	D	+	1	0	ZNF828	114107684	1.000000	0.71417	0.846000	0.33378	0.903000	0.53119	6.134000	0.71689	2.813000	0.96785	0.655000	0.94253	GAC		0.393	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		C	115089582	G	C	115089582	3	2	28	1	0	0	0	0	1	0	0	0	18181	942	33	3	267	3	ZNF828	13	115089582	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09	12869507	115089582	80296	48	1434											
LRFN5	145581	genome.wustl.edu	37	14	42361150	42361150	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr14:42361150G>C	ENST00000298119.4	+	4	3272	c.2083G>C	c.(2083-2085)Gca>Cca	p.A695P	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	695						integral component of membrane (GO:0016021)		p.A695P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCTAAAAGAGCACATATAAA	0.443										HNSCC(30;0.082)																																						1	Substitution - Missense(1)	ovary(1)	14											46	45	45					14																	42361150		2203	4300	6503	41430900	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2083G>C	14.37:g.42361150G>C	ENSP00000298119:p.Ala695Pro		41430900	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767784	0.31320	.	.	ENSG00000165379	ENST00000298119	T	0.53423	0.62	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000029	T	0.31765	0.0807	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.08411	-1.0723	10	0.48119	T	0.1	.	17.3132	0.87215	0.0:0.0:1.0:0.0	.	695	Q96NI6	LRFN5_HUMAN	P	695	ENSP00000298119:A695P	ENSP00000298119:A695P	A	+	1	0	LRFN5	41430900	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.772000	0.55325	2.699000	0.92147	0.650000	0.86243	GCA		0.443	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		C	42361150	G	C	42361150	3	2	28	1	0	0	0	0	1	0	0	0	8941	971	34	3	2089	3	LRFN5	14	42361150	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09		42361150	64988390	49	1435											
BNC1	646	genome.wustl.edu	37	15	83935704	83935704	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr15:83935704G>A	ENST00000345382.2	-	3	404	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	BNC1_ENST00000569704.1_Missense_Mutation_p.R100C|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	107					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R107C(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATTTTTAGGCGAACGGGGATG	0.512																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	15											107	99	102					15																	83935704		2203	4300	6503	81726708	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.319C>T	15.37:g.83935704G>A	ENSP00000307041:p.Arg107Cys		81726708	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136508	0.94517	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	D	0.86956	-2.19	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93556	0.7943	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93593	0.6923	10	0.87932	D	0	-34.9268	19.614	0.95622	0.0:0.0:1.0:0.0	.	100;107	F5GY04;Q01954	.;BNC1_HUMAN	C	107;100	ENSP00000307041:R107C	ENSP00000307041:R107C	R	-	1	0	BNC1	81726708	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	9.554000	0.98121	2.873000	0.98535	0.561000	0.74099	CGC		0.512	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		A	83935704	G	A	83935704	3	1	28	1	0	0	0	0	1	0	0	0	1474	1058	37	1	2677	1	BNC1	15	83935704	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09		83935704	18595688	50	1436											
NOD2	64127	genome.wustl.edu	37	16	50745533	50745533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr16:50745533C>T	ENST00000300589.2	+	4	1816	c.1711C>T	c.(1711-1713)Cag>Tag	p.Q571*	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	571	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.Q571*(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAGCAGCTCCAGGCAGCACA	0.627																																																1	Substitution - Nonsense(1)	ovary(1)	16											42	35	38					16																	50745533		2198	4300	6498	49303034	SO:0001587	stop_gained	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1711C>T	16.37:g.50745533C>T	ENSP00000300589:p.Gln571*		49303034	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Nonsense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	35	5.444849	0.96187	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	.	.	.	5.16	4.2	0.49525	.	0.224222	0.31784	N	0.007073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	10.118	0.42603	0.0:0.9032:0.0:0.0968	.	.	.	.	X	544;571	.	ENSP00000300589:Q571X	Q	+	1	0	NOD2	49303034	0.195000	0.23338	0.999000	0.59377	0.646000	0.38490	0.599000	0.24089	2.403000	0.81681	0.561000	0.74099	CAG		0.627	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		T	50745533	C	T	50745533	4	4	28	1	0	0	0	0	0	1	0	0	10517	595	21	2	1725	2	NOD2	16	50745533	Nonsense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09		50745533	39609220	51	1437											
NECAB2	54550	genome.wustl.edu	37	16	84035457	84035457	+	Silent	SNP	G	G	A	rs149100547	byFrequency	TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr16:84035457G>A	ENST00000305202.4	+	12	1085	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	NECAB2_ENST00000565691.1_Silent_p.A273A	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	356	ABM.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.A356A(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TGTGTAAGGCGTTCCGGCACG	0.632													g|||	6	0.00119808	0.003	0	5008	,	,		17211	0		0	False		,,,				2504	0.002															1	Substitution - coding silent(1)	ovary(1)	16						A		11,4389	17.9+/-39.9	0,11,2189	63	53	56		1068	-10.2	0	16	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous	NECAB2	NM_019065.2		0,11,6489	AA,AG,GG		0.0,0.25,0.0846		356/387	84035457	11,12989	2200	4300	6500	82592958	SO:0001819	synonymous_variant	54550			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.1068G>A	16.37:g.84035457G>A			82592958	A2RRG3|O75547|Q6ZSK0	Silent	SNP	ENST00000305202.4	37	CCDS10940.1																																																																																				0.632	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		A	84035457	G	A	84035457	2	1	28	1	0	0	0	0	0	0	0	1	10305	1132	40	1		1	NECAB2	16	84035457	Silent	SNP	G	TCGA-04-1542-01A-01W-0553-09	33289924	84035457	6319296	52	1438											
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	28	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09		7577120	73618090	53	1439											
ODF4	146852	genome.wustl.edu	37	17	8248732	8248732	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr17:8248732T>A	ENST00000328248.2	+	2	714	c.526T>A	c.(526-528)Tcc>Acc	p.S176T	ODF4_ENST00000584943.1_Missense_Mutation_p.S61T	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	176					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)		p.S176T(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						AAGGAATGTATCCATCCCCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											292	254	267					17																	8248732		2203	4300	6503	8189457	SO:0001583	missense	146852			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.526T>A	17.37:g.8248732T>A	ENSP00000331086:p.Ser176Thr		8189457	Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	T	2.166	-0.390999	0.04932	.	.	ENSG00000184650	ENST00000328248	T	0.27256	1.68	4.59	2.18	0.27775	.	0.000000	0.38663	N	0.001606	T	0.27832	0.0685	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	D	0.66196	0.942	T	0.03278	-1.1053	10	0.56958	D	0.05	-8.8169	3.6185	0.08086	0.1916:0.1042:0.0:0.7042	.	176	Q2M2E3	ODFP4_HUMAN	T	176	ENSP00000331086:S176T	ENSP00000331086:S176T	S	+	1	0	ODF4	8189457	0.086000	0.21541	0.019000	0.16419	0.047000	0.14425	1.871000	0.39539	0.888000	0.36160	0.460000	0.39030	TCC		0.517	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			A	8248732	T	A	8248732	3	1	28	1	0	0	0	0	1	0	0	0	10833	1435	50	5	532	5	ODF4	17	8248732	Missense_Mutation	SNP	T	TCGA-04-1542-01A-01W-0553-09	671612	8248732	72946478	54	1440											
CCDC144A	9720	genome.wustl.edu	37	17	16610838	16610838	+	Silent	SNP	C	C	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr17:16610838C>T	ENST00000360524.8	+	4	796	c.720C>T	c.(718-720)tgC>tgT	p.C240C	RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000456009.1_Silent_p.C240C|RP11-219A15.1_ENST00000448331.3_Silent_p.C240C|CCDC144A_ENST00000399273.1_Silent_p.C240C|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000340621.5_Silent_p.C239C|CCDC144A_ENST00000443444.2_Silent_p.C240C	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	240								p.C240C(1)									TTAAAGGATGCGAAAATAAGC	0.348																																																1	Substitution - coding silent(1)	ovary(1)	17											36	38	37					17																	16610838		1828	4078	5906	16551563	SO:0001819	synonymous_variant	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.720C>T	17.37:g.16610838C>T			16551563	O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	1.236	-0.622772	0.03636	.	.	ENSG00000170160	ENST00000328495	.	.	.	1.72	1.72	0.24424	.	.	.	.	.	T	0.24353	0.0590	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	.	3.7817	0.08683	0.0:0.2187:0.0:0.7813	.	.	.	.	V	4	.	.	A	+	2	0	CCDC144A	16551563	0.111000	0.22076	0.001000	0.08648	0.020000	0.10135	0.866000	0.27954	-0.038000	0.13624	-1.514000	0.00941	GCG		0.348	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			T	16610838	C	T	16610838	2	4	28	1	0	0	0	0	0	0	0	1	2777	776	27	1		1	CCDC144A	17	16610838	Silent	SNP	C	TCGA-04-1542-01A-01W-0553-09	8362106	16610838	64584372	55	1441											
C17orf42	79736	genome.wustl.edu	37	17	29227563	29227563	+	Silent	SNP	T	T	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr17:29227563T>G	ENST00000581216.1	-	3	1134	c.513A>C	c.(511-513)atA>atC	p.I171I	TEFM_ENST00000580840.1_Silent_p.I171I|TEFM_ENST00000579183.1_5'Flank	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	171					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)	p.I171I(1)									AAACGATAGATATGATACTAT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	17											99	93	95					17																	29227563		1848	4098	5946	26251689	SO:0001819	synonymous_variant	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.513A>C	17.37:g.29227563T>G			26251689	E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	ENST00000581216.1	37	CCDS42291.1																																																																																				0.388	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683		G	29227563	T	G	29227563	2	3	28	1	0	0	0	0	0	0	0	1	1856	1396	49	5		5	C17orf42	17	29227563	Silent	SNP	T	TCGA-04-1542-01A-01W-0553-09	12616725	29227563	51967647	56	1442											
C18orf1	753	genome.wustl.edu	37	18	13438245	13438245	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr18:13438245T>A	ENST00000359446.5	+	3	511	c.43T>A	c.(43-45)Tgc>Agc	p.C15S	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.C15S|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.C15S	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	15					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.C15S(1)									TTTTTCAGAGTGCAAATTCAC	0.458																																																1	Substitution - Missense(1)	ovary(1)	18											121	116	117					18																	13438245		2203	4300	6503	13428245	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.43T>A	18.37:g.13438245T>A	ENSP00000352420:p.Cys15Ser		13428245	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607244	0.87157	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	D;D	0.90385	-2.66;-2.66	5.22	5.22	0.72569	.	0.480333	0.20394	N	0.093182	D	0.89347	0.6689	N	0.04018	-0.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.92205	0.5771	10	0.87932	D	0	-0.3558	15.1181	0.72419	0.0:0.0:0.0:1.0	.	15;15	O15165-2;O15165	.;CR001_HUMAN	S	15	ENSP00000354753:C15S;ENSP00000382741:C15S	ENSP00000354753:C15S	C	+	1	0	C18orf1	13428245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.200000	0.77838	1.982000	0.57802	0.533000	0.62120	TGC		0.458	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		A	13438245	T	A	13438245	3	1	28	1	0	0	0	0	1	0	0	0	1894	1696	59	5	49	5	C18orf1	18	13438245	Missense_Mutation	SNP	T	TCGA-04-1542-01A-01W-0553-09		13438245	64639003	57	1443											
OSBPL1A	114876	genome.wustl.edu	37	18	21776114	21776114	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr18:21776114C>G	ENST00000319481.3	-	18	1858	c.1652G>C	c.(1651-1653)aGc>aCc	p.S551T	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S38T|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S169T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	551					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.S551T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCTGAGGATGCTCCAGATACT	0.318																																																1	Substitution - Missense(1)	ovary(1)	18											86	82	83					18																	21776114		2203	4300	6503	20030112	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1652G>C	18.37:g.21776114C>G	ENSP00000320291:p.Ser551Thr		20030112	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413876	0.83449	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.34275	1.37;1.37;1.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	M	0.64676	1.99	0.80722	D	1	D;D	0.76494	0.999;0.979	D;D	0.81914	0.995;0.982	T	0.55585	-0.8118	10	0.41790	T	0.15	-4.1201	17.891	0.88872	0.0:1.0:0.0:0.0	.	551;551	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	T	551;38;169	ENSP00000320291:S551T;ENSP00000382372:S38T;ENSP00000349545:S169T	ENSP00000320291:S551T	S	-	2	0	OSBPL1A	20030112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.769000	0.74985	2.501000	0.84356	0.655000	0.94253	AGC		0.318	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		G	21776114	C	G	21776114	3	3	28	1	0	0	0	0	1	0	0	0	11277	797	28	3	1244	3	OSBPL1A	18	21776114	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	8337869	21776114	56301134	58	1444											
MBD1	4152	genome.wustl.edu	37	18	47800169	47800169	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr18:47800169C>T	ENST00000591416.1	-	12	1642	c.1211G>A	c.(1210-1212)cGt>cAt	p.R404H	MBD1_ENST00000349085.2_Missense_Mutation_p.R348H|MBD1_ENST00000269468.5_Missense_Mutation_p.R404H|MBD1_ENST00000398493.1_Missense_Mutation_p.R348H|MBD1_ENST00000269471.5_Missense_Mutation_p.R381H|MBD1_ENST00000585595.1_Missense_Mutation_p.R429H|MBD1_ENST00000590208.1_Missense_Mutation_p.R404H|MBD1_ENST00000347968.3_Missense_Mutation_p.R348H|MBD1_ENST00000588937.1_Missense_Mutation_p.R381H|MBD1_ENST00000585672.1_Missense_Mutation_p.R354H|MBD1_ENST00000591535.1_Missense_Mutation_p.R381H|MBD1_ENST00000436910.1_Missense_Mutation_p.R381H|MBD1_ENST00000457839.2_Missense_Mutation_p.R429H|MBD1_ENST00000398495.2_Missense_Mutation_p.R373H|MBD1_ENST00000424334.2_Missense_Mutation_p.R455H|MBD1_ENST00000353909.3_Missense_Mutation_p.R355H|MBD1_ENST00000382948.5_Missense_Mutation_p.R404H|MBD1_ENST00000339998.6_Missense_Mutation_p.R404H|MBD1_ENST00000398488.1_Missense_Mutation_p.R348H|MBD1_ENST00000587605.1_Missense_Mutation_p.R348H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	404					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R404H(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTTTCGACGACGGTAAGGTGG	0.612																																																1	Substitution - Missense(1)	ovary(1)	18											100	94	96					18																	47800169		2203	4300	6503	46054167	SO:0001583	missense	4152			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1211G>A	18.37:g.47800169C>T	ENSP00000467017:p.Arg404His		46054167	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	7.062	0.566507	0.13560	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.95690	-3.73;-3.76;-3.7;-3.73;-3.78;-3.74;-3.74;-3.74;-3.75;-3.74;-3.78;-3.7	4.26	-1.02	0.10135	.	0.929598	0.09055	N	0.855241	D	0.87783	0.6264	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B	0.11235	0.002;0.002;0.004;0.001;0.003;0.002;0.001;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.002;0.002;0.002;0.001;0.001;0.001;0.001;0.001	T	0.75156	-0.3417	10	0.38643	T	0.18	1.4119	9.7153	0.40270	0.0:0.5421:0.2031:0.2548	.	348;455;381;404;404;381;355;348;404;348;429;348	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	H	404;355;348;404;348;381;381;455;404;404;429;348;348	ENSP00000372407:R404H;ENSP00000269469:R355H;ENSP00000342531:R348H;ENSP00000269468:R404H;ENSP00000285102:R348H;ENSP00000409561:R381H;ENSP00000269471:R381H;ENSP00000408846:R455H;ENSP00000339546:R404H;ENSP00000405268:R429H;ENSP00000381506:R348H;ENSP00000381502:R348H	ENSP00000269468:R404H	R	-	2	0	MBD1	46054167	0.060000	0.20803	0.007000	0.13788	0.869000	0.49853	0.119000	0.15626	-0.494000	0.06669	-1.164000	0.01763	CGT		0.612	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		T	47800169	C	T	47800169	3	4	28	1	0	0	0	0	1	0	0	0	9342	536	19	1	820	1	MBD1	18	47800169	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	26024055	47800169	30277079	59	1445											
ASNA1	439	genome.wustl.edu	37	19	12856529	12856529	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr19:12856529C>T	ENST00000591090.1	+	5	667	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	ASNA1_ENST00000357332.3_Missense_Mutation_p.R189W					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)									p.R189W(1)		endometrium(1)|lung(6)|ovary(3)	10						GGGCCTGGGCCGGCTTATGCA	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											46	48	48					19																	12856529		2203	4300	6503	12717529	SO:0001583	missense	439			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.565C>T	19.37:g.12856529C>T	ENSP00000466379:p.Arg189Trp		12717529		Missense_Mutation	SNP	ENST00000591090.1	37	CCDS32920.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497765	0.85069	.	.	ENSG00000198356	ENST00000357332	T	0.50277	0.75	5.26	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	L	0.27053	0.805	0.80722	D	1	D;B	0.71674	0.998;0.09	P;B	0.53185	0.72;0.042	T	0.50693	-0.8798	10	0.87932	D	0	-17.4318	13.2457	0.60022	0.0:0.9198:0.0:0.0802	.	171;189	E7EVN0;O43681	.;ASNA_HUMAN	W	189	ENSP00000349887:R189W	ENSP00000349887:R189W	R	+	1	2	ASNA1	12717529	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.674000	0.46867	2.455000	0.83008	0.655000	0.94253	CGG		0.642	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		T	12856529	C	T	12856529	3	4	28	1	0	0	0	0	1	0	0	0	1047	643	23	1	579	1	ASNA1	19	12856529	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09		12856529	46272454	60	1446											
PGLYRP2	114770	genome.wustl.edu	37	19	15587150	15587150	+	Missense_Mutation	SNP	C	C	A	rs372029985		TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr19:15587150C>A	ENST00000340880.4	-	2	811	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.V111L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	111					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.V111L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGCCAGCACCACCCCATAT	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											170	124	140					19																	15587150		2203	4300	6503	15448150	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.331G>T	19.37:g.15587150C>A	ENSP00000345968:p.Val111Leu		15448150	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468304	0.63625	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.14516	2.58;2.5	5.27	4.21	0.49690	.	0.000000	0.64402	D	0.000006	T	0.35828	0.0945	M	0.74647	2.275	0.33540	D	0.594711	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.54556	-0.8276	10	0.87932	D	0	-17.902	11.7575	0.51884	0.0:0.8222:0.1778:0.0	.	111;111	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	111	ENSP00000345968:V111L;ENSP00000292609:V111L	ENSP00000292609:V111L	V	-	1	0	PGLYRP2	15448150	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	4.180000	0.58296	1.176000	0.42840	0.563000	0.77884	GTG		0.612	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		A	15587150	C	A	15587150	3	1	28	1	0	0	0	0	1	0	0	0	11794	507	18	3	1415	3	PGLYRP2	19	15587150	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	2730621	15587150	43541833	61	1447											
RASSF2	9770	genome.wustl.edu	37	20	4766926	4766926	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chr20:4766926G>C	ENST00000379400.3	-	11	1057	c.862C>G	c.(862-864)Cag>Gag	p.Q288E	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.Q288E	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	288	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q288E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGGAGCTTCTGAATGAAGCTT	0.498																																					Melanoma(158;1891 3343 50738)											1	Substitution - Missense(1)	ovary(1)	20											171	183	179					20																	4766926		2203	4300	6503	4714926	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.862C>G	20.37:g.4766926G>C	ENSP00000368710:p.Gln288Glu		4714926	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149523	0.21288	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.09350	2.99;2.99	5.29	5.29	0.74685	SARAH (1);	0.285201	0.39687	N	0.001292	T	0.05868	0.0153	N	0.11560	0.145	0.36856	D	0.88817	B	0.06786	0.001	B	0.06405	0.002	T	0.34079	-0.9843	10	0.10377	T	0.69	.	13.3971	0.60861	0.0:0.1579:0.8421:0.0	.	288	P50749	RASF2_HUMAN	E	288	ENSP00000368710:Q288E;ENSP00000368684:Q288E	ENSP00000368684:Q288E	Q	-	1	0	RASSF2	4714926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.487000	0.60293	2.756000	0.94617	0.561000	0.74099	CAG		0.498	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		C	4766926	G	C	4766926	3	2	28	1	0	0	0	0	1	0	0	0	13089	1299	45	3	126	3	RASSF2	20	4766926	Missense_Mutation	SNP	G	TCGA-04-1542-01A-01W-0553-09		4766926	58258594	62	1448											
DMD	1756	genome.wustl.edu	37	X	32583900	32583900	+	Silent	SNP	G	G	T			TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chrX:32583900G>T	ENST00000357033.4	-	16	2117	c.1911C>A	c.(1909-1911)acC>acA	p.T637T	DMD_ENST00000378677.2_Silent_p.T633T|DMD_ENST00000288447.4_Silent_p.T629T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	637					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T632T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCGTCTTCTGGGTCACTGACT	0.393																																																1	Substitution - coding silent(1)	ovary(1)	X											164	135	145					X																	32583900		2202	4300	6502	32493821	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1911C>A	X.37:g.32583900G>T			32493821	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																				0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32583900	G	T	32583900	2	4	28	1	0	0	0	0	0	0	0	1	4580	1219	43	3		3	DMD	23	32583900	Silent	SNP	G	TCGA-04-1542-01A-01W-0553-09		32583900	122686660	63	1449											
TMLHE	55217	genome.wustl.edu	37	X	154754255	154754255	+	Missense_Mutation	SNP	C	C	T	rs201374974		TCGA-04-1542-01A-01W-0553-09	TCGA-04-1542-10A-01W-0553-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	317a63af-e862-43df-8ef5-7c555b2cb678	b94052a8-c3d2-4e47-81e2-62242bc0841a	g.chrX:154754255C>T	ENST00000334398.3	-	3	365	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.V74I	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	74					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)	p.V74I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CGAAGCCAGACGTAATCAAAG	0.428													C|||	2	0.000529801	0	0.0029	3775	,	,		13295	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	X						C	ILE/VAL,ILE/VAL	0,3834		0,0,1632,570	155	135	142		220,220	3.8	1	X		142	1,6727		0,1,2427,1872	yes	missense,missense	TMLHE	NM_001184797.1,NM_018196.3	29,29	0,1,4059,2442	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	74/377,74/422	154754255	1,10561	2202	4300	6502	154407449	SO:0001583	missense	55217			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.220G>A	X.37:g.154754255C>T	ENSP00000335261:p.Val74Ile		154407449	A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591100	0.66219	0.0	1.49E-4	ENSG00000185973	ENST00000334398;ENST00000369439	D;T	0.82081	-1.57;-0.99	3.81	3.81	0.43845	Domain of unknown function, DUF971 (1);	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	L	0.33137	0.985	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.78130	-0.2324	10	0.05620	T	0.96	-10.9097	12.9807	0.58562	0.0:1.0:0.0:0.0	.	74;74;74	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	I	74	ENSP00000335261:V74I;ENSP00000358447:V74I	ENSP00000335261:V74I	V	-	1	0	TMLHE	154407449	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.454000	0.73493	1.834000	0.53371	0.513000	0.50165	GTC		0.428	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		T	154754255	C	T	154754255	3	4	28	1	0	0	0	0	1	0	0	0	16232	536	19	1	1209	1	TMLHE	23	154754255	Missense_Mutation	SNP	C	TCGA-04-1542-01A-01W-0553-09	122170355	154754255	516305	64	1450											
MACF1	23499	genome.wustl.edu	37	1	39893746	39893746	+	Intron	SNP	G	G	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr1:39893746G>C	ENST00000372915.3	+	61	16578				MACF1_ENST00000361689.2_Missense_Mutation_p.K3468N|MACF1_ENST00000289893.4_Missense_Mutation_p.K3970N|MACF1_ENST00000564288.1_Missense_Mutation_p.K5530N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Missense_Mutation_p.K3468N|MACF1_ENST00000567887.1_Missense_Mutation_p.K5567N|MACF1_ENST00000545844.1_Missense_Mutation_p.K3468N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTCAGAAAAGATAGACTCAT	0.507																																																0			1											108	97	101					1																	39893746		2203	4300	6503	39666333	SO:0001627	intron_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16491+460G>C	1.37:g.39893746G>C			39666333	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	16.47	3.133094	0.56828	.	.	ENSG00000127603	ENST00000545844;ENST00000361689;ENST00000317713;ENST00000289893;ENST00000482035	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.84	2.96	0.34315	.	0.218896	0.30901	N	0.008653	T	0.63792	0.2541	L	0.58810	1.83	0.80722	D	1	D;D	0.69078	0.997;0.975	D;P	0.66979	0.948;0.848	T	0.64630	-0.6362	10	0.72032	D	0.01	.	9.6784	0.40054	0.3322:0.0:0.6678:0.0	.	3468;3412	F8W8Q1;Q9UPN3-3	.;.	N	3468;3468;3468;3970;284	ENSP00000439537:K3468N;ENSP00000354573:K3468N;ENSP00000313438:K3468N;ENSP00000289893:K3970N;ENSP00000433104:K284N	ENSP00000289893:K3970N	K	+	3	2	MACF1	39666333	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	0.364000	0.20325	0.828000	0.34709	-0.259000	0.10710	AAG		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		C	39893746	G	C	39893746	1	2	29	0	1	0	0	0	0	0	0	0	9144	933	33	3		3	MACF1	1	39893746	Intron	SNP	G	TCGA-04-1638-01A-01W-0639-09		39893746	209356875	1	1451											
IQGAP3	128239	genome.wustl.edu	37	1	156503593	156503593	+	Silent	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr1:156503593C>T	ENST00000361170.2	-	31	3958	c.3948G>A	c.(3946-3948)ggG>ggA	p.G1316G		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1316					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGCAGCTCCCCAAGATCCT	0.607																																																0			1											62	50	54					1																	156503593		2203	4300	6503	154770217	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3948G>A	1.37:g.156503593C>T			154770217	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																				0.607	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		T	156503593	C	T	156503593	2	4	29	1	0	0	0	0	0	0	0	1	7816	610	22	2		2	IQGAP3	1	156503593	Silent	SNP	C	TCGA-04-1638-01A-01W-0639-09	116609847	156503593	92747028	2	1452											
SPTA1	6708	genome.wustl.edu	37	1	158632510	158632510	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr1:158632510C>T	ENST00000368147.4	-	17	2626	c.2446G>A	c.(2446-2448)Gct>Act	p.A816T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	816					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGGAAGTAGCTGAGGGTTCA	0.507																																																0			1											97	98	98					1																	158632510		1938	4131	6069	156899134	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2446G>A	1.37:g.158632510C>T	ENSP00000357129:p.Ala816Thr		156899134	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158532	0.57368	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52754	0.65;0.65	4.28	4.28	0.50868	.	0.561865	0.13421	N	0.389151	T	0.66307	0.2776	M	0.91354	3.2	0.48696	D	0.999695	D	0.69078	0.997	D	0.68765	0.96	T	0.68066	-0.5507	10	0.33141	T	0.24	.	13.5817	0.61907	0.0:1.0:0.0:0.0	.	816	P02549	SPTA1_HUMAN	T	816	ENSP00000357130:A816T;ENSP00000357129:A816T	ENSP00000357129:A816T	A	-	1	0	SPTA1	156899134	1.000000	0.71417	0.158000	0.22627	0.591000	0.36615	6.804000	0.75186	2.200000	0.70718	0.563000	0.77884	GCT		0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158632510	C	T	158632510	3	4	29	1	0	0	0	0	1	0	0	0	15118	797	28	2	4957	2	SPTA1	1	158632510	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09	2128917	158632510	90618111	3	1453											
HMCN1	83872	genome.wustl.edu	37	1	186039887	186039887	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr1:186039887C>A	ENST00000271588.4	+	52	8366	c.8137C>A	c.(8137-8139)Cag>Aag	p.Q2713K	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q2713K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2713	Ig-like C2-type 25.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAGGATGGACAGGCCAGTCA	0.383																																																0			1											114	107	110					1																	186039887		2203	4300	6503	184306510	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8137C>A	1.37:g.186039887C>A	ENSP00000271588:p.Gln2713Lys		184306510	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983057	0.74474	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.22	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.158082	0.64402	D	0.000018	T	0.49643	0.1569	N	0.11724	0.165	0.80722	D	1	B	0.24317	0.101	B	0.26614	0.071	T	0.49143	-0.8970	10	0.06757	T	0.87	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	2713	Q96RW7	HMCN1_HUMAN	K	2713	ENSP00000271588:Q2713K;ENSP00000356462:Q2713K	ENSP00000271588:Q2713K	Q	+	1	0	HMCN1	184306510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.676000	0.84012	2.687000	0.91594	0.655000	0.94253	CAG		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186039887	C	A	186039887	3	1	29	1	0	0	0	0	1	0	0	0	7220	479	17	3	8343	3	HMCN1	1	186039887	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09	27407377	186039887	63210734	4	1454											
CFH	3075	genome.wustl.edu	37	1	196654214	196654214	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr1:196654214T>C	ENST00000359637.2	+	6	681	c.619T>C	c.(619-621)Tat>Cat	p.Y207H	CFH_ENST00000439155.2_Missense_Mutation_p.Y271H|CFH_ENST00000367429.4_Missense_Mutation_p.Y271H			P08603	CFAH_HUMAN	complement factor H	271	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGATAATCCTTATATTCCAAA	0.318																																																0			1											70	69	69					1																	196654214		2203	4299	6502	194920837	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.619T>C	1.37:g.196654214T>C	ENSP00000352658:p.Tyr207His		194920837	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	T	14.62	2.590595	0.46214	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.63913	-0.07;-0.07;-0.07	5.11	-10.2	0.00374	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.62684	0.2448	L	0.45228	1.405	0.09310	N	1	D;B;B;B	0.71674	0.998;0.123;0.006;0.134	D;B;B;B	0.87578	0.998;0.062;0.006;0.063	T	0.65290	-0.6204	9	0.40728	T	0.16	.	7.4891	0.27452	0.2112:0.4877:0.0:0.3012	.	207;271;271;271	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	271;271;271;207	ENSP00000356399:Y271H;ENSP00000402656:Y271H;ENSP00000352658:Y207H	ENSP00000352658:Y207H	Y	+	1	0	CFH	194920837	0.000000	0.05858	0.153000	0.22517	0.280000	0.26924	-2.158000	0.01281	-2.130000	0.00816	-0.356000	0.07607	TAT		0.318	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		C	196654214	T	C	196654214	3	2	29	1	0	0	0	0	1	0	0	0	3283	1754	61	4	837	4	CFH	1	196654214	Missense_Mutation	SNP	T	TCGA-04-1638-01A-01W-0639-09	10614327	196654214	52596407	5	1455											
USH2A	7399	genome.wustl.edu	37	1	215848434	215848435	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	AT	AT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr1:215848434_215848435delAT	ENST00000307340.3	-	63	13204_13205	c.12818_12819delAT	c.(12817-12819)tatfs	p.Y4273fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.Y4273fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4273	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		tcatagaaacataggatatcac	0.446										HNSCC(13;0.011)																																						0			1																																								213915058	SO:0001589	frameshift_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12818_12819delAT	1.37:g.215848434_215848435delAT	ENSP00000305941:p.Tyr4273fs		213915057	Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	CCDS31025.1																																																																																				0.446	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		-	215848435	AT	-	215848434	7	5	29	1	0	1	0	1	0	0	0	0	17036	224	8	0	2829	0	USH2A	1	215848434	Frame_Shift_Del	DEL	AT	TCGA-04-1638-01A-01W-0639-09	19194220	215848434	33402187	6	1456											
MYT1L	23040	genome.wustl.edu	37	2	1926914	1926914	+	Silent	SNP	G	G	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr2:1926914G>A	ENST00000399161.2	-	10	1374	c.627C>T	c.(625-627)ggC>ggT	p.G209G	MYT1L_ENST00000428368.2_Silent_p.G209G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	209					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CAGCGATTTTGCCGAGGTTTA	0.423																																																0			2											111	104	106					2																	1926914		1950	4158	6108	1905921	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.627C>T	2.37:g.1926914G>A			1905921	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																					0.423	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		A	1926914	G	A	1926914	2	1	29	1	0	0	0	0	0	0	0	1	10107	1306	46	2		2	MYT1L	2	1926914	Silent	SNP	G	TCGA-04-1638-01A-01W-0639-09		1926914	241272459	7	1457											
PRKCE	5581	genome.wustl.edu	37	2	46207451	46207451	+	Silent	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr2:46207451C>T	ENST00000306156.3	+	5	951	c.624C>T	c.(622-624)gtC>gtT	p.V208V		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	208					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CCTGCGTGGTCCACAAGCGGT	0.532																																																0			2											73	70	71					2																	46207451		1822	3817	5639	46060955	SO:0001819	synonymous_variant	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.624C>T	2.37:g.46207451C>T			46060955	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	37	CCDS1824.1																																																																																				0.532	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			T	46207451	C	T	46207451	2	4	29	1	0	0	0	0	0	0	0	1	12514	842	30	2		2	PRKCE	2	46207451	Silent	SNP	C	TCGA-04-1638-01A-01W-0639-09	44280537	46207451	196991922	8	1458											
PSME4	23198	genome.wustl.edu	37	2	54128637	54128637	+	Silent	SNP	A	A	G	rs150490966	byFrequency	TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr2:54128637A>G	ENST00000404125.1	-	28	3190	c.3135T>C	c.(3133-3135)gaT>gaC	p.D1045D	PSME4_ENST00000421748.2_Silent_p.D189D	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1045					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TACAGTCCCAATCATGAAGGT	0.418																																																0			2						A		2,4404	4.2+/-10.8	0,2,2201	137	133	134		3135	-4.3	1	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSME4	NM_014614.2		0,3,6500	GG,GA,AA		0.0116,0.0454,0.0231		1045/1844	54128637	3,13003	2203	4300	6503	53982141	SO:0001819	synonymous_variant	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3135T>C	2.37:g.54128637A>G			53982141	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																				0.418	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		G	54128637	A	G	54128637	2	3	29	1	0	0	0	0	0	0	0	1	12712	98	4	4		4	PSME4	2	54128637	Silent	SNP	A	TCGA-04-1638-01A-01W-0639-09	7921186	54128637	189070736	9	1459											
LOXL3	84695	genome.wustl.edu	37	2	74762759	74762759	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr2:74762759C>T	ENST00000264094.3	-	8	1443	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	LOXL3_ENST00000409986.1_Missense_Mutation_p.A313T|LOXL3_ENST00000393937.2_Missense_Mutation_p.A313T|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	458	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCCTACAGGCCACCATGGCC	0.637																																																0			2											85	97	93					2																	74762759		2203	4300	6503	74616267	SO:0001583	missense	84695			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1372G>A	2.37:g.74762759C>T	ENSP00000264094:p.Ala458Thr		74616267	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038187	0.75617	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409986	T;T;T	0.31247	1.5;1.5;1.5	5.02	5.02	0.67125	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.467869	0.24301	N	0.039723	T	0.42314	0.1197	M	0.64170	1.965	0.45690	D	0.9986	P;B;B	0.48834	0.916;0.107;0.052	P;B;B	0.49085	0.6;0.088;0.137	T	0.30736	-0.9968	10	0.54805	T	0.06	.	16.2052	0.82122	0.0:1.0:0.0:0.0	.	313;313;458	B9A025;Q6IPL7;P58215	.;.;LOXL3_HUMAN	T	458;313;313	ENSP00000264094:A458T;ENSP00000377512:A313T;ENSP00000386545:A313T	ENSP00000264094:A458T	A	-	1	0	LOXL3	74616267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.769000	0.95229	0.563000	0.77884	GCC		0.637	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		T	74762759	C	T	74762759	3	4	29	1	0	0	0	0	1	0	0	0	8901	739	26	2	917	2	LOXL3	2	74762759	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09	20634122	74762759	168436614	10	1460											
RANBP2	5903	genome.wustl.edu	37	2	109368063	109368063	+	Missense_Mutation	SNP	C	C	T	rs377029115		TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr2:109368063C>T	ENST00000283195.6	+	11	1661	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	512					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCCTATCAGCCGTTATGCCTG	0.398													C|||	1	0.000199681	0	0	5008	,	,		17713	0		0.001	False		,,,				2504	0															0			2						C	LEU/PRO	0,2252		0,0,1126	27	33	31		1535	4.4	0.6	2		31	1,4413		0,1,2206	no	missense	RANBP2	NM_006267.4	98	0,1,3332	TT,TC,CC		0.0227,0.0,0.015	possibly-damaging	512/3225	109368063	1,6665	1126	2207	3333	108734495	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1535C>T	2.37:g.109368063C>T	ENSP00000283195:p.Pro512Leu		108734495	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771785	0.49680	0.0	2.27E-4	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.54479	0.57	5.25	4.38	0.52667	.	.	.	.	.	T	0.48822	0.1521	M	0.69823	2.125	0.54753	D	0.999984	P	0.43938	0.822	B	0.33846	0.171	T	0.57130	-0.7864	9	0.54805	T	0.06	-16.5484	14.0025	0.64442	0.0:0.9265:0.0:0.0735	.	512	P49792	RBP2_HUMAN	L	512	ENSP00000283195:P512L	ENSP00000283195:P512L	P	+	2	0	RANBP2	108734495	1.000000	0.71417	0.611000	0.29010	0.024000	0.10985	5.218000	0.65257	1.343000	0.45638	0.650000	0.86243	CCG		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		T	109368063	C	T	109368063	3	4	29	1	0	0	0	0	1	0	0	0	13031	652	23	1	1577	1	RANBP2	2	109368063	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09	34605304	109368063	133831310	11	1461											
SCN10A	6336	genome.wustl.edu	37	3	38835277	38835277	+	Silent	SNP	G	G	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr3:38835277G>A	ENST00000449082.2	-	1	224	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	75					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGGGCTCCCCGATCAGTTCTG	0.562																																																0			3											144	149	147					3																	38835277		2203	4300	6503	38810281	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.225C>T	3.37:g.38835277G>A			38810281	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38835277	G	A	38835277	2	1	29	1	0	0	0	0	0	0	0	1	13915	1048	37	1		1	SCN10A	3	38835277	Silent	SNP	G	TCGA-04-1638-01A-01W-0639-09		38835277	159187153	12	1462											
USP13	8975	genome.wustl.edu	37	3	179371050	179371050	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr3:179371050G>A	ENST00000263966.3	+	1	508	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_5'Flank	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	13					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CATGCCGGGCGGCAGCGGAGG	0.741																																																0			3											18	16	17					3																	179371050		2134	4209	6343	180853744	SO:0001583	missense	8975			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.37G>A	3.37:g.179371050G>A	ENSP00000263966:p.Gly13Ser		180853744	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329396	0.24167	.	.	ENSG00000058056	ENST00000263966	T	0.13657	2.57	3.29	3.29	0.37713	.	0.122386	0.32852	U	0.005566	T	0.05777	0.0151	N	0.08118	0	0.80722	D	1	B;B	0.24533	0.105;0.038	B;B	0.11329	0.006;0.006	T	0.35724	-0.9777	10	0.16420	T	0.52	-8.3241	8.6404	0.33974	0.1097:0.0:0.8903:0.0	.	13;13	Q92995;A8K2S3	UBP13_HUMAN;.	S	13	ENSP00000263966:G13S	ENSP00000263966:G13S	G	+	1	0	USP13	180853744	.	.	0.999000	0.59377	0.370000	0.29829	.	.	1.382000	0.46385	0.462000	0.41574	GGC		0.741	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			A	179371050	G	A	179371050	3	1	29	1	0	0	0	0	1	0	0	0	17044	1116	39	1	39	1	USP13	3	179371050	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09	140535773	179371050	18651380	13	1463											
KLB	152831	genome.wustl.edu	37	4	39450111	39450111	+	Silent	SNP	A	A	G			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr4:39450111A>G	ENST00000257408.4	+	5	3037	c.2940A>G	c.(2938-2940)caA>caG	p.Q980Q		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	980					carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTCAGACCCAAGAAAATACAG	0.413																																																0			4											109	106	107					4																	39450111		2203	4300	6503	39126506	SO:0001819	synonymous_variant	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2940A>G	4.37:g.39450111A>G			39126506	Q2M3K8	Silent	SNP	ENST00000257408.4	37	CCDS3451.1																																																																																				0.413	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		G	39450111	A	G	39450111	2	3	29	1	0	0	0	0	0	0	0	1	8332	69	3	4		4	KLB	4	39450111	Silent	SNP	A	TCGA-04-1638-01A-01W-0639-09		39450111	151704165	14	1464											
ANK2	287	genome.wustl.edu	37	4	114254347	114254347	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr4:114254347T>C	ENST00000357077.4	+	29	3415	c.3362T>C	c.(3361-3363)cTt>cCt	p.L1121P	ANK2_ENST00000509550.1_Missense_Mutation_p.L297P|ANK2_ENST00000506722.1_Missense_Mutation_p.L1112P|ANK2_ENST00000264366.6_Missense_Mutation_p.L1088P|ANK2_ENST00000394537.3_Missense_Mutation_p.L1121P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1121	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATGAAATTCTTAACGGCATG	0.413																																																0			4											135	131	132					4																	114254347		2203	4300	6503	114473796	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3362T>C	4.37:g.114254347T>C	ENSP00000349588:p.Leu1121Pro		114473796	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109927	0.37242	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.81415	-1.12;-0.48;-0.73;-0.62;-0.73;-0.8;-0.75;-1.49	5.12	5.12	0.69794	.	0.000000	0.41712	D	0.000829	D	0.88760	0.6524	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.988	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.998;0.983	D	0.90149	0.4219	10	0.87932	D	0	.	15.2296	0.73378	0.0:0.0:0.0:1.0	.	297;1088;133;1121;1121;1112;1112	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.;.	P	1100;1034;1112;167;1136;1121;1121;1088;1112;297	ENSP00000423799:L1100P;ENSP00000421011:L1034P;ENSP00000421067:L1112P;ENSP00000424722:L1136P;ENSP00000378044:L1121P;ENSP00000349588:L1121P;ENSP00000264366:L1088P;ENSP00000426944:L297P	ENSP00000264366:L1088P	L	+	2	0	ANK2	114473796	1.000000	0.71417	0.859000	0.33776	0.204000	0.24138	7.997000	0.88414	2.052000	0.61016	0.533000	0.62120	CTT		0.413	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		C	114254347	T	C	114254347	3	2	29	1	0	0	0	0	1	0	0	0	621	1609	56	4	3541	4	ANK2	4	114254347	Missense_Mutation	SNP	T	TCGA-04-1638-01A-01W-0639-09	74804236	114254347	76899929	15	1465											
MAST4	375449	genome.wustl.edu	37	5	66456342	66456342	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr5:66456342G>T	ENST00000403625.2	+	27	4002	c.3707G>T	c.(3706-3708)gGa>gTa	p.G1236V	MAST4_ENST00000403666.1_Missense_Mutation_p.G1047V|MAST4_ENST00000405643.1_Missense_Mutation_p.G1057V|MAST4_ENST00000261569.7_Missense_Mutation_p.G1042V|MAST4_ENST00000404260.3_Missense_Mutation_p.G1239V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1239						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATCAAAACTGGACCAGCCAGG	0.408																																																0			5											109	114	113					5																	66456342		1876	4121	5997	66492098	SO:0001583	missense	23227			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3707G>T	5.37:g.66456342G>T	ENSP00000385727:p.Gly1236Val		66492098	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.114686|5.114686	0.94339|0.94339	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399|ENST00000443808	T;T;T;T;T|.	0.73258|.	-0.68;-0.69;-0.73;-0.73;-0.68|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85978|0.85978	0.5823|0.5823	M|M	0.90252|0.90252	3.1|3.1	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.87483|0.87483	0.2422|0.2422	10|5	0.87932|.	D|.	0|.	-19.7013|-19.7013	20.0784|20.0784	0.97758|0.97758	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1239;1047|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	V|C	1239;1236;1047;1057;1057;1042;975|292	ENSP00000385048:G1239V;ENSP00000385727:G1236V;ENSP00000384313:G1047V;ENSP00000384099:G1057V;ENSP00000261569:G1042V|.	ENSP00000261569:G1042V|.	G|W	+|+	2|3	0|0	MAST4|MAST4	66492098|66492098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.408	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66456342	G	T	66456342	3	4	29	1	0	0	0	0	1	0	0	0	9327	1174	41	3	3943	3	MAST4	5	66456342	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09		66456342	114458918	16	1466											
NOTCH4	4855	genome.wustl.edu	37	6	32170085	32170085	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr6:32170085C>T	ENST00000375023.3	-	21	3661	c.3523G>A	c.(3523-3525)Gcc>Acc	p.A1175T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1175					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACCCCTTGGCTCCGGGTTTC	0.652																																																0			6											22	24	23					6																	32170085		1509	2707	4216	32278063	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3523G>A	6.37:g.32170085C>T	ENSP00000364163:p.Ala1175Thr		32278063	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	8.895	0.955028	0.18507	.	.	ENSG00000204301	ENST00000375023	D	0.92149	-2.98	4.77	3.9	0.45041	Notch domain (3);	0.153666	0.30383	N	0.009745	T	0.77948	0.4207	L	0.43152	1.355	0.09310	N	1	B	0.25809	0.135	B	0.33121	0.158	T	0.65084	-0.6254	10	0.13470	T	0.59	.	7.1342	0.25519	0.0:0.8014:0.0:0.1986	.	1175	Q99466	NOTC4_HUMAN	T	1175	ENSP00000364163:A1175T	ENSP00000364163:A1175T	A	-	1	0	NOTCH4	32278063	0.001000	0.12720	0.013000	0.15412	0.143000	0.21401	0.379000	0.20585	1.229000	0.43630	0.561000	0.74099	GCC		0.652	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32170085	C	T	32170085	3	4	29	1	0	0	0	0	1	0	0	0	10551	797	28	2	2528	2	NOTCH4	6	32170085	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09		32170085	138944982	17	1467											
CRISP2	7180	genome.wustl.edu	37	6	49666155	49666155	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr6:49666155T>G	ENST00000339139.4	-	7	573	c.337A>C	c.(337-339)Agc>Cgc	p.S113R		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	113	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TCATACCAGCTTTGGATTGCA	0.413																																																0			6											155	141	146					6																	49666155		2203	4300	6503	49774114	SO:0001583	missense	7180			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.337A>C	6.37:g.49666155T>G	ENSP00000339155:p.Ser113Arg		49774114	A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.528180	0.27299	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08370	3.1	5.39	4.21	0.49690	CAP domain (3);	0.729199	0.13855	N	0.358098	T	0.07863	0.0197	L	0.58101	1.795	0.39259	D	0.964178	B;B	0.33964	0.434;0.017	P;B	0.46585	0.521;0.081	T	0.14200	-1.0481	10	0.39692	T	0.17	.	7.1108	0.25388	0.0:0.17:0.0:0.83	.	113;113	Q7Z7B2;P16562	.;CRIS2_HUMAN	R	113	ENSP00000339155:S113R	ENSP00000211238:S113R	S	-	1	0	CRISP2	49774114	0.056000	0.20664	0.989000	0.46669	0.290000	0.27261	0.346000	0.19997	2.170000	0.68504	0.528000	0.53228	AGC		0.413	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		G	49666155	T	G	49666155	3	3	29	1	0	0	0	0	1	0	0	0	3880	1609	56	5	410	5	CRISP2	6	49666155	Missense_Mutation	SNP	T	TCGA-04-1638-01A-01W-0639-09	17496070	49666155	121448912	18	1468											
COL19A1	1310	genome.wustl.edu	37	6	70854154	70854154	+	Splice_Site	SNP	A	A	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr6:70854154A>T	ENST00000322773.4	+	24	1781	c.1679A>T	c.(1678-1680)aAg>aTg	p.K560M	COL19A1_ENST00000393344.1_Splice_Site_p.K182M	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	560	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAGGAGAAAAGGTATAGTTT	0.398																																																0			6											94	92	93					6																	70854154		2203	4300	6503	70910875	SO:0001630	splice_region_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1680+1A>T	6.37:g.70854154A>T			70910875	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.694653	0.30052	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93488	-3.23;-3.23	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.94837	0.8332	M	0.64630	1.985	0.48830	D	0.999717	D	0.76494	0.999	D	0.81914	0.995	D	0.95082	0.8214	10	0.54805	T	0.06	.	13.7581	0.62948	1.0:0.0:0.0:0.0	.	560	Q14993	COJA1_HUMAN	M	560;182	ENSP00000316030:K560M;ENSP00000377013:K182M	ENSP00000316030:K560M	K	+	2	0	COL19A1	70910875	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	6.286000	0.72665	2.045000	0.60652	0.528000	0.53228	AAG		0.398	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Missense_Mutation	T	70854154	A	T	70854154	5	4	29	1	0	0	0	0	0	0	1	0	3676	86	3	5	1769	5	COL19A1	6	70854154	Splice_Site	SNP	A	TCGA-04-1638-01A-01W-0639-09	21187999	70854154	100260913	19	1469											
TAAR9	134860	genome.wustl.edu	37	6	132860383	132860383	+	RNA	SNP	G	G	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr6:132860383G>C	ENST00000434551.1	+	0	955					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		CCAATGGTTTGGGAAGGCAAT	0.313																																					Colon(10;433 445 15992 45047 47213)											0			6											75	66	69					6																	132860383		1845	4101	5946	132902076			134860			AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"GPCR / Class A : Trace amine associated receptors"	20977	protein-coding gene	gene with protein product		608282	"trace amine receptor 3", "trace amine associated receptor 9"	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860383G>C			132902076		Missense_Mutation	SNP	ENST00000434551.1	37																																																																																					0.313	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		C	132860383	G	C	132860383	1	2	29	0	1	0	0	0	0	0	0	0	15494	1348	47	3		3	TAAR9	6	132860383	RNA	SNP	G	TCGA-04-1638-01A-01W-0639-09	62006229	132860383	38254684	20	1470											
ASL	435	genome.wustl.edu	37	7	65557569	65557569	+	Missense_Mutation	SNP	C	C	G	rs201047656		TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr7:65557569C>G	ENST00000304874.9	+	16	1271	c.1169C>G	c.(1168-1170)gCc>gGc	p.A390G	AC068533.7_ENST00000450043.1_Silent_p.G158G|ASL_ENST00000380839.4_Missense_Mutation_p.A364G|ASL_ENST00000395332.3_Missense_Mutation_p.A390G|ASL_ENST00000395331.3_Missense_Mutation_p.A370G|ASL_ENST00000464970.1_3'UTR	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	390					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCCCACGAGGCCTCCGGGAAA	0.642																																																0			7											58	59	59					7																	65557569		2203	4300	6503	65195004	SO:0001583	missense	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1169C>G	7.37:g.65557569C>G	ENSP00000307188:p.Ala390Gly		65195004	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.331970	0.81801	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.28	5.28	0.74379	L-Aspartase-like (1);	0.440908	0.25689	N	0.028950	D	0.89781	0.6814	M	0.81341	2.54	0.38388	D	0.945337	B;B;B	0.22983	0.078;0.028;0.015	B;B;B	0.22601	0.04;0.015;0.015	D	0.86875	0.2038	9	.	.	.	.	11.7137	0.51639	0.0:0.9187:0.0:0.0813	.	364;370;390	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	G	390;364;390;370	ENSP00000307188:A390G;ENSP00000370219:A364G;ENSP00000378741:A390G;ENSP00000378740:A370G	.	A	+	2	0	ASL	65195004	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.771000	0.47670	2.622000	0.88805	0.491000	0.48974	GCC		0.642	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		G	65557569	C	G	65557569	3	3	29	1	0	0	0	0	1	0	0	0	1044	739	26	3	1227	3	ASL	7	65557569	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09		65557569	93581094	21	1471											
CSMD1	64478	genome.wustl.edu	37	8	2820091	2820091	+	Silent	SNP	G	G	A	rs374609823		TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr8:2820091G>A	ENST00000520002.1	-	62	10083	c.9528C>T	c.(9526-9528)tcC>tcT	p.S3176S	CSMD1_ENST00000400186.3_Silent_p.S2999S|CSMD1_ENST00000537824.1_Silent_p.S3175S|CSMD1_ENST00000602723.1_Silent_p.S2999S|CSMD1_ENST00000542608.1_Silent_p.S2998S|CSMD1_ENST00000602557.1_Silent_p.S3176S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3176	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		AGAAGACTTCGGACTTATAGG	0.527																																																0			8						G		0,3806		0,0,1903	58	57	58		9525	-8.1	0.2	8		58	1,8239		0,1,4119	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6022	AA,AG,GG		0.0121,0.0,0.0083		3175/3565	2820091	1,12045	1903	4120	6023	2807498	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.9528C>T	8.37:g.2820091G>A			2807498	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	0.615	-0.823431	0.02755	0.0	1.21E-4	ENSG00000183117	ENST00000335551	.	.	.	5.6	-8.06	0.01102	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0268	0.01529	0.2891:0.2176:0.3003:0.193	.	.	.	.	X	2593	.	.	R	-	1	2	CSMD1	2807498	0.003000	0.15002	0.154000	0.22540	0.101000	0.19017	-1.297000	0.02759	-1.781000	0.01277	-1.805000	0.00616	CGA		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2820091	G	A	2820091	2	1	29	1	0	0	0	0	0	0	0	1	3944	1103	39	1		1	CSMD1	8	2820091	Silent	SNP	G	TCGA-04-1638-01A-01W-0639-09		2820091	143543931	22	1472											
KIF13B	23303	genome.wustl.edu	37	8	29005012	29005012	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr8:29005012G>A	ENST00000524189.1	-	17	1959	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	KIF13B_ENST00000521515.1_Missense_Mutation_p.R641W	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	641					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGCCTTCTCCGGAGCTGCTCC	0.517																																																0			8											67	64	65					8																	29005012		1969	4157	6126	29060931	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1921C>T	8.37:g.29005012G>A	ENSP00000427900:p.Arg641Trp		29060931	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521761	0.64747	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.72615	-0.67;-0.67	5.68	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.83848	0.5343	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	D	0.86983	0.2105	10	0.87932	D	0	.	16.1541	0.81644	0.0:0.0:0.7455:0.2545	.	641;641	Q9NQT8;F8VPJ2	KI13B_HUMAN;.	W	641	ENSP00000427900:R641W;ENSP00000429201:R641W	ENSP00000429201:R641W	R	-	1	2	KIF13B	29060931	1.000000	0.71417	0.287000	0.24848	0.489000	0.33432	5.403000	0.66338	1.364000	0.46038	0.563000	0.77884	CGG		0.517	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			A	29005012	G	A	29005012	3	1	29	1	0	0	0	0	1	0	0	0	8275	1115	39	1	3655	1	KIF13B	8	29005012	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09	26184921	29005012	117359010	23	1473											
TAF1L	138474	genome.wustl.edu	37	9	32634143	32634143	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr9:32634143C>T	ENST00000242310.4	-	1	1524	c.1435G>A	c.(1435-1437)Gat>Aat	p.D479N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	479					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTTTGTCATCATCCAGAGTG	0.483																																																0			9											198	172	181					9																	32634143		2203	4300	6503	32624143	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1435G>A	9.37:g.32634143C>T	ENSP00000418379:p.Asp479Asn		32624143	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315498	0.60524	.	.	ENSG00000122728	ENST00000242310	T	0.08102	3.13	0.479	0.479	0.16796	.	0.105883	0.64402	D	0.000004	T	0.05502	0.0145	L	0.36672	1.1	0.40218	D	0.977709	B	0.13145	0.007	B	0.12156	0.007	T	0.36648	-0.9739	10	0.16420	T	0.52	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	479	Q8IZX4	TAF1L_HUMAN	N	479	ENSP00000418379:D479N	ENSP00000418379:D479N	D	-	1	0	TAF1L	32624143	1.000000	0.71417	0.987000	0.45799	0.510000	0.34073	4.952000	0.63618	0.507000	0.28148	0.195000	0.17529	GAT		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			T	32634143	C	T	32634143	3	4	29	1	0	0	0	0	1	0	0	0	15523	826	29	2	4049	2	TAF1L	9	32634143	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09		32634143	108579288	24	1474											
LOC645961	645961	genome.wustl.edu	37	9	90747151	90747151	+	IGR	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr9:90747151C>T								U6 (133901 upstream) : U3 (242032 downstream)																							GGACAGAAGCCGCCAAATCCT	0.562																																																0			9											52	51	52					9																	90747151		692	1591	2283	89936971	SO:0001628	intergenic_variant	0																															9.37:g.90747151C>T			89936971		RNA	SNP		37																																																																																				0	0.562									T	90747151	C	T	90747151	1	4	29	0	1	0	0	0	0	0	0	0	8883	639	23	1		1	LOC645961	9	90747151	IGR	SNP	C	TCGA-04-1638-01A-01W-0639-09	58113008	90747151	50466280	25	1475											
TMEFF1	8577	genome.wustl.edu	37	9	103334907	103334907	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr9:103334907T>C	ENST00000374879.4	+	9	1439	c.1007T>C	c.(1006-1008)aTt>aCt	p.I336T	TMEFF1_ENST00000334943.6_Missense_Mutation_p.I297T|MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.Y299Y	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	336					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				GCAGCAATTATTGGAGCTGTA	0.383																																																0			9											127	114	118					9																	103334907		2203	4300	6503	102374728	SO:0001583	missense	8577			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"tomoregulin-1", "cancer/testis antigen family 120, member 1"	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.1007T>C	9.37:g.103334907T>C	ENSP00000364013:p.Ile336Thr		102374728	Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	CCDS6750.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120196	0.77323	.	.	ENSG00000241697	ENST00000334943;ENST00000374879	T;T	0.19938	2.11;2.11	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.11641	-1.0579	10	0.87932	D	0	-26.2375	12.7449	0.57276	0.0:0.0:0.0:1.0	.	336;297	Q8IYR6;Q8IYR6-2	TEFF1_HUMAN;.	T	297;336	ENSP00000334447:I297T;ENSP00000364013:I336T	ENSP00000334447:I297T	I	+	2	0	TMEFF1	102374728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.683000	0.84093	1.869000	0.54173	0.528000	0.53228	ATT		0.383	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		C	103334907	T	C	103334907	3	2	29	1	0	0	0	0	1	0	0	0	16013	1493	52	4	1041	4	TMEFF1	9	103334907	Missense_Mutation	SNP	T	TCGA-04-1638-01A-01W-0639-09	12587756	103334907	37878524	26	1476											
C10orf58	84293	genome.wustl.edu	37	10	82187140	82187140	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr10:82187140G>A	ENST00000372181.1	+	4	934	c.464G>A	c.(463-465)cGt>cAt	p.R155H	FAM213A_ENST00000372188.1_Missense_Mutation_p.R155H|FAM213A_ENST00000372187.5_Missense_Mutation_p.R155H|FAM213A_ENST00000372185.1_Missense_Mutation_p.R144H	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	155					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										GGATTTATCCGTCTGGGAGTG	0.488																																																0			10											147	135	139					10																	82187140		2203	4300	6503	82177120	SO:0001583	missense	84293			AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"		"chromosome 10 open reading frame 58"	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.464G>A	10.37:g.82187140G>A	ENSP00000361254:p.Arg155His		82177120	B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	G	35	5.578563	0.96565	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71303	-0.4633	10	0.33141	T	0.24	-10.4849	17.9177	0.88957	0.0:0.0:1.0:0.0	.	155	Q9BRX8	PAMM_HUMAN	H	155;155;144;155	ENSP00000361262:R155H;ENSP00000361261:R155H;ENSP00000361259:R144H;ENSP00000361254:R155H	ENSP00000361254:R155H	R	+	2	0	C10orf58	82177120	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	9.461000	0.97646	2.828000	0.97474	0.655000	0.94253	CGT		0.488	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			A	82187140	G	A	82187140	3	1	29	1	0	0	0	0	1	0	0	0	1610	1145	40	1	478	1	C10orf58	10	82187140	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09		82187140	53347607	27	1477											
NUP98	4928	genome.wustl.edu	37	11	3781847	3781847	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr11:3781847C>T	ENST00000324932.7	-	10	1516	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S	NUP98_ENST00000397007.4_Missense_Mutation_p.G366S|NUP98_ENST00000359171.4_Missense_Mutation_p.G366S|NUP98_ENST00000397004.4_Missense_Mutation_p.G366S|NUP98_ENST00000355260.3_Missense_Mutation_p.G366S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	366	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTGTTATTGCCAAACAGGGTC	0.393			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0			11											73	72	72					11																	3781847		2201	4298	6499	3738423	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1096G>A	11.37:g.3781847C>T	ENSP00000316032:p.Gly366Ser		3738423	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505100	0.85282	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.47	5.47	0.80525	.	0.113580	0.64402	D	0.000010	T	0.77883	0.4197	M	0.77313	2.365	0.58432	D	0.999994	D;D;D;D	0.67145	0.988;0.957;0.996;0.994	P;P;D;P	0.63793	0.709;0.503;0.918;0.867	T	0.78368	-0.2231	9	0.45353	T	0.12	.	16.4842	0.84180	0.0:1.0:0.0:0.0	.	366;366;366;366	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	S	366	.	ENSP00000316032:G366S	G	-	1	0	NUP98	3738423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.177000	0.65032	2.566000	0.86566	0.563000	0.77884	GGC		0.393	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		T	3781847	C	T	3781847	3	4	29	1	0	0	0	0	1	0	0	0	10773	594	21	2	4474	2	NUP98	11	3781847	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09		3781847	131224669	28	1478											
EIF4G2	1982	genome.wustl.edu	37	11	10822101	10822101	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr11:10822101C>G	ENST00000526148.1	-	17	2248	c.1738G>C	c.(1738-1740)Gag>Cag	p.E580Q	EIF4G2_ENST00000396525.2_Missense_Mutation_p.E542Q|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.E580Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.E580Q	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTTAACATCTCAGGAAGAAAG	0.378																																																0			11											182	178	180					11																	10822101		2201	4294	6495	10778677	SO:0001583	missense	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1738G>C	11.37:g.10822101C>G	ENSP00000433664:p.Glu580Gln		10778677		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869388	0.32977	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531180	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.76	4.86	0.63082	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.090722	0.85682	D	0.000000	T	0.57961	0.2089	M	0.64997	1.995	0.48288	D	0.999626	D;D	0.71674	0.998;0.998	D;D	0.65573	0.936;0.936	T	0.60110	-0.7327	9	0.21540	T	0.41	-9.6063	15.1671	0.72837	0.0:0.9322:0.0:0.0678	.	580;653	P78344;B4DZF2	IF4G2_HUMAN;.	Q	580;580;580;542;653;85	ENSP00000433664:E580Q;ENSP00000433371:E580Q;ENSP00000340281:E580Q;ENSP00000379778:E542Q;ENSP00000433561:E85Q	ENSP00000340281:E580Q	E	-	1	0	EIF4G2	10778677	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.671000	0.83941	1.579000	0.49836	-0.145000	0.13849	GAG		0.378	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		G	10822101	C	G	10822101	3	3	29	1	0	0	0	0	1	0	0	0	5037	835	29	3	1009	3	EIF4G2	11	10822101	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09	7040254	10822101	124184415	29	1479											
OR8K5	219453	genome.wustl.edu	37	11	55926963	55926963	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr11:55926963A>C	ENST00000313447.1	-	1	830	c.831T>G	c.(829-831)ttT>ttG	p.F277L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTAAAGTGTAAAACACAGAAG	0.383																																																0			11											103	89	93					11																	55926963		2201	4296	6497	55683539	SO:0001583	missense	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.831T>G	11.37:g.55926963A>C	ENSP00000323853:p.Phe277Leu		55683539	Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.567674	0.45798	.	.	ENSG00000181752	ENST00000313447	T	0.00032	8.88	3.88	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.00144	0.0004	L	0.45581	1.43	0.26564	N	0.973671	P	0.35628	0.513	B	0.39531	0.302	T	0.15983	-1.0418	10	0.66056	D	0.02	.	6.1634	0.20376	0.6457:0.0:0.0:0.3543	.	277	Q8NH50	OR8K5_HUMAN	L	277	ENSP00000323853:F277L	ENSP00000323853:F277L	F	-	3	2	OR8K5	55683539	0.000000	0.05858	1.000000	0.80357	0.865000	0.49528	-1.809000	0.01731	1.748000	0.51833	0.381000	0.24937	TTT		0.383	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		C	55926963	A	C	55926963	3	2	29	1	0	0	0	0	1	0	0	0	11245	11	1	5	95	5	OR8K5	11	55926963	Missense_Mutation	SNP	A	TCGA-04-1638-01A-01W-0639-09	45104862	55926963	79079553	30	1480											
FAT3	120114	genome.wustl.edu	37	11	92534488	92534488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr11:92534488delG	ENST00000298047.6	+	9	8326	c.8309delG	c.(8308-8310)cgcfs	p.R2770fs	FAT3_ENST00000409404.2_Frame_Shift_Del_p.R2770fs|FAT3_ENST00000525166.1_Frame_Shift_Del_p.R2620fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2770	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTGACAAACGCCTTGACCGT	0.443										TCGA Ovarian(4;0.039)																																						0			11											77	74	75					11																	92534488		1918	4136	6054	92174136	SO:0001589	frameshift_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8309delG	11.37:g.92534488delG	ENSP00000298047:p.Arg2770fs		92174136	B5MDB0|Q96AU6	Frame_Shift_Del	DEL	ENST00000298047.6	37																																																																																					0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		-	92534488	G	-	92534488	7	5	29	1	0	1	0	1	0	0	0	0	5691	1087	38	0	8343	0	FAT3	11	92534488	Frame_Shift_Del	DEL	G	TCGA-04-1638-01A-01W-0639-09	36607525	92534488	42472028	31	1481											
EMG1	10162	genome.wustl.edu	37	12	7084952	7084952	+	IGR	SNP	A	A	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr12:7084952A>C	ENST00000261407.4	-	0	2268				EMG1_ENST00000546220.1_3'UTR|EMG1_ENST00000261406.6_Missense_Mutation_p.E238A|LPCAT3_ENST00000535021.1_5'Flank|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GCCTTTGAGGAAGTATGGGGG	0.478																																																0			12											123	122	123					12																	7084952		1955	4140	6095	6955213	SO:0001628	intergenic_variant	10436			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7084952A>C			6955213	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1																																																																																				0.478	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		C	7084952	A	C	7084952	1	2	29	0	1	0	0	0	0	0	0	0	5090	246	9	5		5	EMG1	12	7084952	IGR	SNP	A	TCGA-04-1638-01A-01W-0639-09		7084952	126766943	32	1482											
A2M	2	genome.wustl.edu	37	12	9254109	9254109	+	Silent	SNP	G	G	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr12:9254109G>A	ENST00000318602.7	-	12	1735	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	476					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AATGTGCCTGGACTGTCTGAG	0.498																																																0			12											90	86	87					12																	9254109		1957	4138	6095	9145376	SO:0001819	synonymous_variant	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1428C>T	12.37:g.9254109G>A			9145376	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1																																																																																				0.498	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		A	9254109	G	A	9254109	2	1	29	1	0	0	0	0	0	0	0	1	4	1161	41	2		2	A2M	12	9254109	Silent	SNP	G	TCGA-04-1638-01A-01W-0639-09	2169157	9254109	124597786	33	1483											
C12orf35	55196	genome.wustl.edu	37	12	32134393	32134393	+	Missense_Mutation	SNP	G	G	C	rs375507663		TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr12:32134393G>C	ENST00000312561.4	+	4	918	c.504G>C	c.(502-504)atG>atC	p.M168I	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	168																	AAATGCAGATGATCCCTTCTA	0.413																																																0			12											98	92	94					12																	32134393		2203	4300	6503	32025660	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.504G>C	12.37:g.32134393G>C	ENSP00000310338:p.Met168Ile		32025660	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371914	0.42003	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.07444	3.19;3.19	5.42	3.35	0.38373	.	0.990505	0.08215	N	0.980019	T	0.07773	0.0195	L	0.36672	1.1	0.09310	N	1	P	0.38677	0.642	B	0.35278	0.199	T	0.38436	-0.9661	9	.	.	.	.	8.3033	0.32027	0.086:0.0:0.7647:0.1493	.	168	Q9HCM1	CL035_HUMAN	I	168	ENSP00000310338:M168I;ENSP00000370442:M168I	.	M	+	3	0	C12orf35	32025660	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.223000	0.17719	0.484000	0.27630	0.650000	0.86243	ATG		0.413	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		C	32134393	G	C	32134393	3	2	29	1	0	0	0	0	1	0	0	0	1682	1290	45	3	506	3	C12orf35	12	32134393	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09	22880284	32134393	101717502	34	1484											
KRT6A	3853	genome.wustl.edu	37	12	52881700	52881700	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr12:52881700G>T	ENST00000330722.6	-	9	1567	c.1499C>A	c.(1498-1500)gCc>gAc	p.A500D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	500	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACCACTGGCACCGCCATA	0.602																																																0			12											57	62	60					12																	52881700		2203	4300	6503	51167967	SO:0001583	missense	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1499C>A	12.37:g.52881700G>T	ENSP00000369317:p.Ala500Asp		51167967	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	g	6.734	0.504203	0.12822	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.87966	-2.32	4.94	1.45	0.22620	.	0.847313	0.10085	N	0.717882	D	0.85444	0.5698	M	0.66939	2.045	0.09310	N	1	B	0.26635	0.155	B	0.26517	0.07	T	0.68330	-0.5437	10	0.12430	T	0.62	.	16.8847	0.86072	0.0:0.5604:0.4396:0.0	.	500	P02538	K2C6A_HUMAN	D	500;456	ENSP00000369317:A500D	ENSP00000369317:A500D	A	-	2	0	KRT6A	51167967	0.000000	0.05858	0.003000	0.11579	0.048000	0.14542	0.119000	0.15626	0.511000	0.28236	0.586000	0.80456	GCC		0.602	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		T	52881700	G	T	52881700	3	4	29	1	0	0	0	0	1	0	0	0	8480	1203	42	3	199	3	KRT6A	12	52881700	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09	20747307	52881700	80970195	35	1485											
RB1	5925	genome.wustl.edu	37	13	48955568	48955568	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr13:48955568G>C	ENST00000267163.4	+	17	1822	c.1684G>C	c.(1684-1686)Gca>Cca	p.A562P		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	562	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGAATCCCTTGCATGGCTCTC	0.343		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	13											69	65	66					13																	48955568		2203	4300	6503	47853569	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1684G>C	13.37:g.48955568G>C	ENSP00000267163:p.Ala562Pro		47853569	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878364	0.91740	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.93547	-3.24	5.34	5.34	0.76211	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.056609	0.64402	D	0.000001	D	0.97318	0.9123	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97974	1.0345	10	0.87932	D	0	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	562	P06400	RB_HUMAN	P	541;562	ENSP00000267163:A562P	ENSP00000267163:A562P	A	+	1	0	RB1	47853569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.488000	0.83962	0.650000	0.86243	GCA		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			C	48955568	G	C	48955568	3	2	29	1	0	0	0	0	1	0	0	0	13101	1319	46	3	1750	3	RB1	13	48955568	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09		48955568	66214310	36	1486											
ZFYVE1	53349	genome.wustl.edu	37	14	73440815	73440815	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr14:73440815C>T	ENST00000556143.1	-	11	2794	c.2074G>A	c.(2074-2076)Gtg>Atg	p.V692M	ZFYVE1_ENST00000555072.1_Missense_Mutation_p.V277M|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.V277M|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.V678M|ZFYVE1_ENST00000554145.1_5'Flank|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.V692M	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	692					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GCTGTCACCACGGCTCCCAGA	0.582																																																0			14											127	101	110					14																	73440815		2203	4300	6503	72510568	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.2074G>A	14.37:g.73440815C>T	ENSP00000450742:p.Val692Met		72510568	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029704	0.93518	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.18;-0.18	5.54	5.54	0.83059	.	0.060246	0.64402	D	0.000003	T	0.79753	0.4500	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.985	P;P	0.59171	0.853;0.461	T	0.80863	-0.1192	10	0.72032	D	0.01	-19.3062	19.6787	0.95950	0.0:1.0:0.0:0.0	.	692;692	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	M	692;678;692;277;277	ENSP00000452442:V692M;ENSP00000326921:V678M;ENSP00000450742:V692M;ENSP00000377757:V277M;ENSP00000452232:V277M	ENSP00000326921:V692M	V	-	1	0	ZFYVE1	72510568	1.000000	0.71417	0.993000	0.49108	0.613000	0.37349	7.627000	0.83176	2.884000	0.98904	0.655000	0.94253	GTG		0.582	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		T	73440815	C	T	73440815	3	4	29	1	0	0	0	0	1	0	0	0	17663	536	19	1	267	1	ZFYVE1	14	73440815	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09		73440815	33908725	37	1487											
TLN2	83660	genome.wustl.edu	37	15	63112807	63112807	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr15:63112807A>G	ENST00000561311.1	+	53	7230	c.7000A>G	c.(7000-7002)Aaa>Gaa	p.K2334E	TLN2_ENST00000306829.6_Missense_Mutation_p.K2334E			Q9Y4G6	TLN2_HUMAN	talin 2	2334	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCAAAACCAAAAGTAAGTGT	0.502																																																0			15											96	88	91					15																	63112807		2203	4300	6503	60899860	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7000A>G	15.37:g.63112807A>G	ENSP00000453508:p.Lys2334Glu		60899860	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750480	0.69533	.	.	ENSG00000171914	ENST00000306829	T	0.30714	1.52	6.06	6.06	0.98353	I/LWEQ (2);	0.041485	0.85682	D	0.000000	T	0.29817	0.0745	L	0.41356	1.27	0.51233	D	0.999918	B	0.33238	0.403	B	0.35353	0.201	T	0.03403	-1.1040	10	0.29301	T	0.29	-21.4199	16.6093	0.84858	1.0:0.0:0.0:0.0	.	2334	Q9Y4G6	TLN2_HUMAN	E	2334	ENSP00000303476:K2334E	ENSP00000303476:K2334E	K	+	1	0	TLN2	60899860	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.287000	0.95975	2.324000	0.78689	0.533000	0.62120	AAA		0.502	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			G	63112807	A	G	63112807	3	3	29	1	0	0	0	0	1	0	0	0	15948	15	1	4	7202	4	TLN2	15	63112807	Missense_Mutation	SNP	A	TCGA-04-1638-01A-01W-0639-09		63112807	39418585	38	1488											
TSC2	7249	genome.wustl.edu	37	16	2107109	2107109	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr16:2107109A>G	ENST00000219476.3	+	9	1408	c.778A>G	c.(778-780)Atg>Gtg	p.M260V	TSC2_ENST00000382538.6_Missense_Mutation_p.M211V|TSC2_ENST00000353929.4_Missense_Mutation_p.M260V|TSC2_ENST00000568454.1_Missense_Mutation_p.M271V|TSC2_ENST00000350773.4_Missense_Mutation_p.M260V|TSC2_ENST00000439673.2_Missense_Mutation_p.M223V|TSC2_ENST00000401874.2_Missense_Mutation_p.M260V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	260	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTCGCAGCTGATGCGGAACCT	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0			16											38	27	31					16																	2107109		2077	4004	6081	2047110	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.778A>G	16.37:g.2107109A>G	ENSP00000219476:p.Met260Val		2047110	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.959048	0.74016	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.65	4.65	0.58169	Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	M	0.84082	2.675	0.80722	D	1	D;D;D;P;D;P	0.69078	0.957;0.979;0.997;0.904;0.979;0.771	D;D;D;D;D;P	0.75484	0.96;0.986;0.983;0.968;0.981;0.817	D	0.88159	0.2856	10	0.27785	T	0.31	-36.5501	14.3569	0.66742	1.0:0.0:0.0:0.0	.	211;223;260;260;260;260	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	V	260;260;260;223;211;260	ENSP00000219476:M260V;ENSP00000384468:M260V;ENSP00000248099:M260V;ENSP00000399232:M223V;ENSP00000371978:M211V;ENSP00000344383:M260V	ENSP00000219476:M260V	M	+	1	0	TSC2	2047110	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.098000	0.76974	1.857000	0.53885	0.459000	0.35465	ATG		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		G	2107109	A	G	2107109	3	3	29	1	0	0	0	0	1	0	0	0	16606	333	12	4	808	4	TSC2	16	2107109	Missense_Mutation	SNP	A	TCGA-04-1638-01A-01W-0639-09		2107109	88247644	39	1489											
KIAA0556	23247	genome.wustl.edu	37	16	27761031	27761031	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr16:27761031C>T	ENST00000261588.4	+	16	2769	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	917						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATCTCCAACACGGAGCTCCCG	0.647																																																0			16											51	49	50					16																	27761031		2197	4300	6497	27668532	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2750C>T	16.37:g.27761031C>T	ENSP00000261588:p.Thr917Met		27668532	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.882303	0.00532	.	.	ENSG00000047578	ENST00000261588	T	0.06449	3.3	4.7	1.14	0.20703	.	0.363040	0.30365	N	0.009800	T	0.01222	0.0040	N	0.00230	-1.795	0.25250	N	0.989688	B	0.16396	0.017	B	0.09377	0.004	T	0.47071	-0.9145	10	0.05959	T	0.93	-21.8493	8.5273	0.33313	0.0:0.2277:0.0:0.7723	.	917	O60303	K0556_HUMAN	M	917	ENSP00000261588:T917M	ENSP00000261588:T917M	T	+	2	0	KIAA0556	27668532	1.000000	0.71417	0.129000	0.21949	0.027000	0.11550	2.767000	0.47637	-0.017000	0.14103	-0.768000	0.03414	ACG		0.647	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27761031	C	T	27761031	3	4	29	1	0	0	0	0	1	0	0	0	8183	536	19	1	2812	1	KIAA0556	16	27761031	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09	25653922	27761031	62593722	40	1490											
SLC5A2	6524	genome.wustl.edu	37	16	31499366	31499366	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr16:31499366T>C	ENST00000330498.3	+	8	912	c.893T>C	c.(892-894)gTg>gCg	p.V298A	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	298					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TAGGTCATCGTGCAGCGCTGC	0.687																																																0			16											69	66	67					16																	31499366		2197	4300	6497	31406867	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.893T>C	16.37:g.31499366T>C	ENSP00000327943:p.Val298Ala		31406867	A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097790	0.76870	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.89415	-2.51;-2.51	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	M	0.90145	3.09	0.80722	D	1	P	0.41710	0.76	P	0.45538	0.484	D	0.92839	0.6287	10	0.87932	D	0	.	11.1778	0.48610	0.0:0.0:0.0:1.0	.	298	P31639	SC5A2_HUMAN	A	298	ENSP00000327943:V298A;ENSP00000410601:V298A	ENSP00000327943:V298A	V	+	2	0	SLC5A2	31406867	1.000000	0.71417	0.962000	0.40283	0.575000	0.36095	7.785000	0.85724	1.739000	0.51704	0.379000	0.24179	GTG		0.687	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			C	31499366	T	C	31499366	3	2	29	1	0	0	0	0	1	0	0	0	14668	1696	59	4	923	4	SLC5A2	16	31499366	Missense_Mutation	SNP	T	TCGA-04-1638-01A-01W-0639-09	3738335	31499366	58855387	41	1491											
VAT1L	57687	genome.wustl.edu	37	16	78011560	78011560	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr16:78011560G>A	ENST00000302536.2	+	9	1381	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	410							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGGAGACAGCGAGAACAAGGA	0.512																																																0			16											173	130	145					16																	78011560		2198	4300	6498	76569061	SO:0001583	missense	57687			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1228G>A	16.37:g.78011560G>A	ENSP00000303129:p.Glu410Lys		76569061	Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633665	0.67130	.	.	ENSG00000171724	ENST00000302536	T	0.08896	3.04	4.97	4.97	0.65823	.	0.125201	0.56097	D	0.000027	T	0.03959	0.0111	N	0.08118	0	0.80722	D	1	P	0.44006	0.824	B	0.24701	0.055	T	0.54503	-0.8284	10	0.32370	T	0.25	-8.2833	17.8175	0.88639	0.0:0.0:1.0:0.0	.	410	Q9HCJ6	VAT1L_HUMAN	K	410	ENSP00000303129:E410K	ENSP00000303129:E410K	E	+	1	0	VAT1L	76569061	1.000000	0.71417	0.962000	0.40283	0.973000	0.67179	9.471000	0.97696	2.315000	0.78130	0.561000	0.74099	GAG		0.512	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		A	78011560	G	A	78011560	3	1	29	1	0	0	0	0	1	0	0	0	17130	1059	37	1	1262	1	VAT1L	16	78011560	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09	46512194	78011560	12343193	42	1492											
CXCL16	400569	genome.wustl.edu	37	17	4638588	4638588	+	IGR	SNP	G	G	C	rs542989437		TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr17:4638588G>C	ENST00000293777.5	+	0	833				CXCL16_ENST00000574412.1_Missense_Mutation_p.H192D|CXCL16_ENST00000293778.6_Missense_Mutation_p.H192D|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						CCCGCAGTGTGAATGGTGGTT	0.592																																																0			17											73	68	70					17																	4638588		2203	4300	6503	4585337	SO:0001628	intergenic_variant	58191			AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638588G>C			4585337	Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600963	0.28534	.	.	ENSG00000161921	ENST00000293778	T	0.29917	1.55	5.43	-2.7	0.06004	.	1.992470	0.02286	N	0.069825	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.20672	-1.0268	10	0.35671	T	0.21	-0.1028	5.8867	0.18886	0.5044:0.3328:0.1628:0.0	.	173	Q9H2A7	CXL16_HUMAN	D	192	ENSP00000293778:H192D	ENSP00000293778:H192D	H	-	1	0	CXCL16	4585337	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-0.504000	0.06375	-0.078000	0.12730	0.561000	0.74099	CAC		0.592	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		C	4638588	G	C	4638588	1	2	29	0	1	0	0	0	0	0	0	0	4083	1290	45	3		3	CXCL16	17	4638588	IGR	SNP	G	TCGA-04-1638-01A-01W-0639-09		4638588	76556622	43	1493											
DSG4	147409	genome.wustl.edu	37	18	28986206	28986206	+	Silent	SNP	G	G	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr18:28986206G>A	ENST00000308128.4	+	12	1938	c.1803G>A	c.(1801-1803)gcG>gcA	p.A601A	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.A601A|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	601					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGGTGCCGCGGGCATCTACA	0.502																																																0			18											109	107	108					18																	28986206		2203	4300	6503	27240204	SO:0001819	synonymous_variant	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1803G>A	18.37:g.28986206G>A			27240204	A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	CCDS11897.1																																																																																				0.502	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		A	28986206	G	A	28986206	2	1	29	1	0	0	0	0	0	0	0	1	4779	1103	39	1		1	DSG4	18	28986206	Silent	SNP	G	TCGA-04-1638-01A-01W-0639-09		28986206	49091042	44	1494											
ZNF516	9658	genome.wustl.edu	37	18	74091995	74091995	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr18:74091995T>C	ENST00000443185.2	-	4	2392	c.2075A>G	c.(2074-2076)gAg>gGg	p.E692G	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	692					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGAAGGGAACTCCACACCATC	0.567																																																0			18											58	61	60					18																	74091995		1973	4175	6148	72220983	SO:0001583	missense	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2075A>G	18.37:g.74091995T>C	ENSP00000394757:p.Glu692Gly		72220983		Missense_Mutation	SNP	ENST00000443185.2	37		.	.	.	.	.	.	.	.	.	.	T	6.348	0.432349	0.12045	.	.	ENSG00000101493	ENST00000443185	T	0.10005	2.92	4.44	0.502	0.16932	.	0.401453	0.24070	N	0.041822	T	0.04770	0.0129	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41502	-0.9505	9	0.16896	T	0.51	-2.8289	4.2941	0.10892	0.0:0.2157:0.3334:0.4509	.	692	Q92618	ZN516_HUMAN	G	692	ENSP00000394757:E692G	ENSP00000394757:E692G	E	-	2	0	ZNF516	72220983	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.034000	0.30204	-0.039000	0.13602	0.533000	0.62120	GAG		0.567	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		C	74091995	T	C	74091995	3	2	29	1	0	0	0	0	1	0	0	0	17960	1551	54	4	1433	4	ZNF516	18	74091995	Missense_Mutation	SNP	T	TCGA-04-1638-01A-01W-0639-09	45105789	74091995	3985253	45	1495											
RSPH6A	81492	genome.wustl.edu	37	19	46307934	46307934	+	Missense_Mutation	SNP	G	G	A	rs186156470	byFrequency	TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr19:46307934G>A	ENST00000221538.3	-	3	1371	c.1229C>T	c.(1228-1230)cCg>cTg	p.P410L	RSPH6A_ENST00000597055.1_Missense_Mutation_p.P410L|RSPH6A_ENST00000600188.1_Missense_Mutation_p.P146L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	410						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CACGGGCGGCGGCTTCCATAC	0.657													G|||	3	0.000599042	0	0.0043	5008	,	,		15854	0		0	False		,,,				2504	0															0			19											64	59	61					19																	46307934		2203	4300	6503	50999774	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1229C>T	19.37:g.46307934G>A	ENSP00000221538:p.Pro410Leu		50999774	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	CCDS12675.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	15.78	2.933719	0.52866	.	.	ENSG00000104941	ENST00000221538	T	0.19250	2.16	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	M	0.83953	2.67	0.52099	D	0.999948	D	0.76494	0.999	P	0.60173	0.87	T	0.41106	-0.9527	10	0.48119	T	0.1	-13.084	14.5144	0.67809	0.0:0.0:1.0:0.0	.	410	Q9H0K4	RSH6A_HUMAN	L	410	ENSP00000221538:P410L	ENSP00000221538:P410L	P	-	2	0	RSPH6A	50999774	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	4.951000	0.63610	2.544000	0.85801	0.456000	0.33151	CCG		0.657	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			A	46307934	G	A	46307934	3	1	29	1	0	0	0	0	1	0	0	0	13710	1116	39	1	940	1	RSPH6A	19	46307934	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09		46307934	12821049	46	1496											
PTOV1	53635	genome.wustl.edu	37	19	50363277	50363277	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr19:50363277G>T	ENST00000601675.1	+	11	1180	c.1076G>T	c.(1075-1077)tGt>tTt	p.C359F	AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.C327F|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_Intron|PTOV1_ENST00000391842.1_Missense_Mutation_p.C359F|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000600603.1_Intron|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000599732.1_Missense_Mutation_p.C359F			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	359	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AAAGCATCGTGTGAGATCCGC	0.577																																																0			19											107	77	87					19																	50363277		2203	4300	6503	55055089	SO:0001583	missense	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1076G>T	19.37:g.50363277G>T	ENSP00000472816:p.Cys359Phe		55055089	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854237	0.71719	.	.	ENSG00000104960	ENST00000391842	.	.	.	4.27	4.27	0.50696	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.73217	2.22	0.53688	D	0.999979	D	0.76494	0.999	D	0.91635	0.999	T	0.80939	-0.1158	9	0.72032	D	0.01	-10.789	15.9638	0.79950	0.0:0.0:1.0:0.0	.	359	Q86YD1	PTOV1_HUMAN	F	359	.	ENSP00000375717:C359F	C	+	2	0	PTOV1	55055089	1.000000	0.71417	0.743000	0.31040	0.590000	0.36582	8.488000	0.90458	2.377000	0.81083	0.457000	0.33378	TGT		0.577	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		T	50363277	G	T	50363277	3	4	29	1	0	0	0	0	1	0	0	0	12772	1377	48	3	1118	3	PTOV1	19	50363277	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09	4055343	50363277	8765706	47	1497											
SIGLEC14	100049587	genome.wustl.edu	37	19	52149592	52149592	+	Silent	SNP	C	C	T	rs541001381	byFrequency	TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr19:52149592C>T	ENST00000360844.6	-	2	380	c.339G>A	c.(337-339)acG>acA	p.T113T	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000599649.1_Silent_p.T113T|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Silent_p.T113T	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	113	Ig-like V-type.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		AATAGCTTCCCGTGTCCTCCA	0.527													C|||	2	0.000399361	0.0015	0	5008	,	,		16759	0		0	False		,,,				2504	0															0			19											40	47	45					19																	52149592		1755	3885	5640	56841404	SO:0001819	synonymous_variant	0			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.339G>A	19.37:g.52149592C>T			56841404	Q6UXG0	Silent	SNP	ENST00000360844.6	37	CCDS42604.1																																																																																				0.527	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		T	52149592	C	T	52149592	2	4	29	1	0	0	0	0	0	0	0	1	14312	639	23	1		1	SIGLEC14	19	52149592	Silent	SNP	C	TCGA-04-1638-01A-01W-0639-09	1786315	52149592	6979391	48	1498											
ZSWIM1	90204	genome.wustl.edu	37	20	44511649	44511649	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr20:44511649G>C	ENST00000372523.1	+	2	513	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.E140Q	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	140						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCCAGCATGGGAGAGAGTCTG	0.517																																																0			20											122	111	115					20																	44511649		2203	4300	6503	43945056	SO:0001583	missense	90204			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.418G>C	20.37:g.44511649G>C	ENSP00000361601:p.Glu140Gln		43945056	Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402450	0.42613	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.24151	1.87;1.87	5.38	4.41	0.53225	.	0.507214	0.15750	U	0.246492	T	0.28433	0.0703	L	0.57536	1.79	0.25683	N	0.985775	P	0.48764	0.915	P	0.47603	0.551	T	0.10405	-1.0631	10	0.25751	T	0.34	-16.0353	7.4587	0.27283	0.135:0.0:0.7191:0.146	.	140	Q9BR11	ZSWM1_HUMAN	Q	140	ENSP00000361601:E140Q;ENSP00000361598:E140Q	ENSP00000361598:E140Q	E	+	1	0	ZSWIM1	43945056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.636000	0.37144	2.793000	0.96121	0.655000	0.94253	GAG		0.517	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		C	44511649	G	C	44511649	3	2	29	1	0	0	0	0	1	0	0	0	18240	1175	41	3	420	3	ZSWIM1	20	44511649	Missense_Mutation	SNP	G	TCGA-04-1638-01A-01W-0639-09		44511649	18513871	49	1499											
LAMA5	3911	genome.wustl.edu	37	20	60884427	60884427	+	Missense_Mutation	SNP	C	C	T	rs138468519	byFrequency	TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr20:60884427C>T	ENST00000252999.3	-	80	11119	c.11053G>A	c.(11053-11055)Ggg>Agg	p.G3685R	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3685	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCCACTGCCCCGTGGACCTCC	0.726													C|||	18	0.00359425	8e-04	0.0086	5008	,	,		7867	0		0.0099	False		,,,				2504	0.001															0			20							ARG/GLY	9,4123		0,9,2057	7	9	9		11053	5.4	0.5	20	dbSNP_134	9	73,8195		0,73,4061	yes	missense	LAMA5	NM_005560.3	125	0,82,6118	TT,TC,CC		0.8829,0.2178,0.6613	benign	3685/3696	60884427	82,12318	2066	4134	6200	60317822	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.11053G>A	20.37:g.60884427C>T	ENSP00000252999:p.Gly3685Arg		60317822	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	19.47	3.834528	0.71373	0.002178	0.008829	ENSG00000130702	ENST00000252999	D	0.81499	-1.5	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.88058	0.6335	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90205	0.4260	10	0.87932	D	0	.	18.7063	0.91640	0.0:1.0:0.0:0.0	.	3685	O15230	LAMA5_HUMAN	R	3685	ENSP00000252999:G3685R	ENSP00000252999:G3685R	G	-	1	0	LAMA5	60317822	0.997000	0.39634	0.543000	0.28128	0.015000	0.08874	6.207000	0.72159	2.520000	0.84964	0.556000	0.70494	GGG		0.726	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		T	60884427	C	T	60884427	3	4	29	1	0	0	0	0	1	0	0	0	8609	652	23	1	38	1	LAMA5	20	60884427	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09	16372778	60884427	2141093	50	1500											
PRIC285	85441	genome.wustl.edu	37	20	62197091	62197091	+	Silent	SNP	G	G	A	rs147465782	byFrequency	TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr20:62197091G>A	ENST00000467148.1	-	8	3153	c.3084C>T	c.(3082-3084)gaC>gaT	p.D1028D	HELZ2_ENST00000427522.2_Silent_p.D459D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1028	Ala-rich.|Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCTTCACTGCGTCTCCTGCTG	0.667													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		17368	0		0	False		,,,				2504	0															0			20						G	,	11,4375	15.5+/-35.6	0,11,2182	37	30	32		3084,1377	-5.7	0	20	dbSNP_134	32	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	0,11,6478	AA,AG,GG		0.0,0.2508,0.0848	,	1028/2650,459/2081	62197091	11,12967	2193	4296	6489	61667535	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3084C>T	20.37:g.62197091G>A			61667535	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																				0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62197091	G	A	62197091	2	1	29	1	0	0	0	0	0	0	0	1	12488	1136	40	1		1	PRIC285	20	62197091	Silent	SNP	G	TCGA-04-1638-01A-01W-0639-09	1312664	62197091	828429	51	1501											
MGAT3	4248	genome.wustl.edu	37	22	39884180	39884180	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chr22:39884180C>A	ENST00000341184.6	+	2	1043	c.828C>A	c.(826-828)caC>caA	p.H276Q		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	276					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TCCTGGACCACTTCCCGCCCG	0.677																																																0			22											57	60	59					22																	39884180		2200	4296	6496	38214126	SO:0001583	missense	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.828C>A	22.37:g.39884180C>A	ENSP00000345270:p.His276Gln		38214126	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231061	0.58777	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.6	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	M	0.66939	2.045	0.38155	D	0.938873	D	0.76494	0.999	D	0.77557	0.99	T	0.72896	-0.4153	9	0.46703	T	0.11	.	10.1233	0.42634	0.0:0.7898:0.0:0.2102	.	276	Q09327	MGAT3_HUMAN	Q	276	.	ENSP00000345270:H276Q	H	+	3	2	MGAT3	38214126	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.456000	0.35201	1.350000	0.45770	0.561000	0.74099	CAC		0.677	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		A	39884180	C	A	39884180	3	1	29	1	0	0	0	0	1	0	0	0	9544	564	20	3	830	3	MGAT3	22	39884180	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09		39884180	11420386	52	1502											
IRS4	8471	genome.wustl.edu	37	X	107977216	107977216	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1638-01A-01W-0639-09	TCGA-04-1638-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e987ddbb-58d8-4346-b91a-c733fdf8e585	489ca7cf-fb85-418d-8025-90afc71936d7	g.chrX:107977216C>T	ENST00000372129.2	-	1	2435	c.2359G>A	c.(2359-2361)Ggt>Agt	p.G787S	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	787	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGAATTGCACCGGCTCCAGGA	0.478																																																0			X											130	138	135					X																	107977216		2203	4300	6503	107863872	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2359G>A	X.37:g.107977216C>T	ENSP00000361202:p.Gly787Ser		107863872		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115667	0.37339	.	.	ENSG00000133124	ENST00000372129	T	0.21191	2.02	5.33	4.44	0.53790	.	0.405934	0.25377	N	0.031112	T	0.11879	0.0289	L	0.42245	1.32	0.21256	N	0.999748	P	0.44946	0.846	B	0.33339	0.162	T	0.22034	-1.0228	10	0.26408	T	0.33	-13.3152	4.1847	0.10392	0.0:0.5792:0.2556:0.1652	.	787	O14654	IRS4_HUMAN	S	787	ENSP00000361202:G787S	ENSP00000361202:G787S	G	-	1	0	IRS4	107863872	0.255000	0.24002	0.966000	0.40874	0.979000	0.70002	0.485000	0.22324	2.447000	0.82792	0.600000	0.82982	GGT		0.478	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		T	107977216	C	T	107977216	3	4	29	1	0	0	0	0	1	0	0	0	7842	652	23	1	1418	1	IRS4	23	107977216	Missense_Mutation	SNP	C	TCGA-04-1638-01A-01W-0639-09		107977216	47293344	53	1503											
MFN2	9927	genome.wustl.edu	37	1	12064078	12064078	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr1:12064078G>A	ENST00000235329.5	+	12	1512	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	MFN2_ENST00000444836.1_Missense_Mutation_p.R397Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	397					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CGTGAAGAGCGGCAAGACCGA	0.493																																																0			1											75	76	76					1																	12064078		2203	4300	6503	11986665	SO:0001583	missense	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1190G>A	1.37:g.12064078G>A	ENSP00000235329:p.Arg397Gln		11986665	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304043	0.40795	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.92099	-2.97;-2.97	5.66	5.66	0.87406	.	0.205050	0.43260	D	0.000585	T	0.81688	0.4875	N	0.04335	-0.225	0.41637	D	0.989054	B	0.09022	0.002	B	0.08055	0.003	T	0.76751	-0.2844	10	0.22706	T	0.39	-24.8032	13.7384	0.62833	0.0:0.0:0.8464:0.1536	.	397	O95140	MFN2_HUMAN	Q	397;397;95	ENSP00000416338:R397Q;ENSP00000235329:R397Q	ENSP00000235329:R397Q	R	+	2	0	MFN2	11986665	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	4.428000	0.59894	2.688000	0.91661	0.650000	0.86243	CGG		0.493	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		A	12064078	G	A	12064078	3	1	30	1	0	0	0	0	1	0	0	0	9524	1116	39	1	1228	1	MFN2	1	12064078	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09		12064078	237186543	1	1504											
HIVEP3	59269	genome.wustl.edu	37	1	42050016	42050016	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr1:42050016G>C	ENST00000372583.1	-	4	1338	c.453C>G	c.(451-453)atC>atG	p.I151M	HIVEP3_ENST00000247584.5_Missense_Mutation_p.I151M|HIVEP3_ENST00000372584.1_Missense_Mutation_p.I151M|HIVEP3_ENST00000429157.2_Missense_Mutation_p.I151M	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	151					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGGGGGGAATGATGGAAGCGT	0.602																																																0			1											87	93	91					1																	42050016		2203	4300	6503	41822603	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.453C>G	1.37:g.42050016G>C	ENSP00000361664:p.Ile151Met		41822603	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038223	0.19669	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06068	3.36;3.35;3.35;3.36	5.08	3.21	0.36854	.	0.271361	0.26282	N	0.025270	T	0.11452	0.0279	N	0.22421	0.69	0.24399	N	0.994715	D;D	0.64830	0.994;0.989	D;P	0.66716	0.946;0.885	T	0.08617	-1.0713	10	0.42905	T	0.14	-16.6455	11.1075	0.48212	0.1516:0.0:0.8484:0.0	.	151;151	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	M	151	ENSP00000361665:I151M;ENSP00000361664:I151M;ENSP00000247584:I151M;ENSP00000410828:I151M	ENSP00000247584:I151M	I	-	3	3	HIVEP3	41822603	1.000000	0.71417	0.077000	0.20336	0.298000	0.27526	4.280000	0.58959	0.721000	0.32231	0.563000	0.77884	ATC		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		C	42050016	G	C	42050016	3	2	30	1	0	0	0	0	1	0	0	0	7188	1280	45	3	6791	3	HIVEP3	1	42050016	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09	29985938	42050016	207200605	2	1505											
DOCK7	85440	genome.wustl.edu	37	1	62923222	62923222	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr1:62923222C>A	ENST00000340370.5	-	48	6291	c.6274G>T	c.(6274-6276)Gtc>Ttc	p.V2092F	DOCK7_ENST00000251157.5_Missense_Mutation_p.V2112F	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2123	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGGCAGGTGACAGGCAATACT	0.408																																																0			1											131	125	127					1																	62923222		2203	4300	6503	62695810	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.6274G>T	1.37:g.62923222C>A	ENSP00000340742:p.Val2092Phe		62695810	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.88|10.88	1.475119|1.475119	0.26511|0.26511	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370	.|T;T	.|0.14766	.|2.48;2.48	5.89|5.89	1.52|1.52	0.23074|0.23074	.|.	.|1.875910	.|0.02287	.|N	.|0.069929	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.19112|0.19112	0.55|0.55	0.47214|0.47214	D|D	0.999354|0.999354	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.06405	.|0.002;0.001;0.001;0.001;0.002;0.002	T|T	0.15235|0.15235	-1.0444|-1.0444	5|10	.|0.21540	.|T	.|0.41	.|.	9.6558|9.6558	0.39925|0.39925	0.0:0.6899:0.0:0.3101|0.0:0.6899:0.0:0.3101	.|.	.|2123;2112;2092;2081;2083;2114	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	F|F	1285|2123;2112;2092	.|ENSP00000251157:V2112F;ENSP00000340742:V2092F	.|ENSP00000251157:V2112F	C|V	-|-	2|1	0|0	DOCK7|DOCK7	62695810|62695810	0.830000|0.830000	0.29337|0.29337	0.995000|0.995000	0.50966|0.50966	0.993000|0.993000	0.82548|0.82548	1.298000|1.298000	0.33412|0.33412	0.266000|0.266000	0.21894|0.21894	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.408	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		A	62923222	C	A	62923222	3	1	30	1	0	0	0	0	1	0	0	0	4692	478	17	3	63	3	DOCK7	1	62923222	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09	20873206	62923222	186327399	3	1506											
GLMN	11146	genome.wustl.edu	37	1	92755768	92755768	+	Silent	SNP	C	C	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr1:92755768C>T	ENST00000370360.3	-	5	462	c.381G>A	c.(379-381)caG>caA	p.Q127Q	GLMN_ENST00000534881.1_Silent_p.Q127Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	127					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTGTAATGGCTGAAGCAAAA	0.353									Multiple Glomus Tumors (of the Skin), Familial																																							0			1											100	105	103					1																	92755768		2203	4299	6502	92528356	SO:0001819	synonymous_variant	11146	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"venous malformation with glomus cells"	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.381G>A	1.37:g.92755768C>T			92528356	Q5VVC3|Q9BVE8	Silent	SNP	ENST00000370360.3	37	CCDS738.1																																																																																				0.353	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		T	92755768	C	T	92755768	2	4	30	1	0	0	0	0	0	0	0	1	6448	796	28	2		2	GLMN	1	92755768	Silent	SNP	C	TCGA-04-1644-01B-01D-1526-09	29832546	92755768	156494853	4	1507											
PNKD	25953	genome.wustl.edu	37	2	219209530	219209530	+	Splice_Site	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr2:219209530G>A	ENST00000273077.4	+	10	1035		c.e10-1		PNKD_ENST00000436005.2_Splice_Site|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Splice_Site	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia						glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCACCCACAGTGCCCATCTA	0.637																																																0			2											138	154	148					2																	219209530		2203	4300	6503	218917774	SO:0001630	splice_region_variant	25953				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"myofibrillogenesis regulator 1"	609023	"paroxysmal nonkinesiogenic dyskinesia"			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.985-1G>A	2.37:g.219209530G>A			218917774	A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Splice_Site	SNP	ENST00000273077.4	37	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115652	0.77323	.	.	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.645	0.85174	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNKD	218917774	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.699000	0.98703	2.196000	0.70406	0.462000	0.41574	.		0.637	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2		Intron	A	219209530	G	A	219209530	5	1	30	1	0	0	0	0	0	0	1	0	12146	1043	36	2	1387	2	PNKD	2	219209530	Splice_Site	SNP	G	TCGA-04-1644-01B-01D-1526-09		219209530	23989843	5	1508											
TMCC1	23023	genome.wustl.edu	37	3	129389482	129389482	+	Missense_Mutation	SNP	G	G	T	rs376957018		TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr3:129389482G>T	ENST00000393238.3	-	4	1542	c.1202C>A	c.(1201-1203)gCg>gAg	p.A401E	TMCC1_ENST00000426664.2_Missense_Mutation_p.A287E|TMCC1_ENST00000432054.2_Missense_Mutation_p.A77E|TMCC1_ENST00000329333.5_Missense_Mutation_p.A222E	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	401						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGCCTTCCCCGCATCATCCAC	0.483																																																0			3											89	86	87					3																	129389482		2203	4300	6503	130872172	SO:0001583	missense	23023			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1202C>A	3.37:g.129389482G>T	ENSP00000376930:p.Ala401Glu		130872172	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650245	0.29336	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.21	-1.62	0.08372	.	0.393117	0.30437	N	0.009635	T	0.44726	0.1307	L	0.46157	1.445	0.09310	N	0.999992	B;B	0.31256	0.316;0.009	P;B	0.45310	0.476;0.023	T	0.46843	-0.9162	10	0.06236	T	0.91	-22.9697	21.6548	0.99958	0.0:0.3261:0.6739:0.0	.	222;401	B4DE04;O94876	.;TMCC1_HUMAN	E	77;401;287;222	ENSP00000404711:A77E;ENSP00000376930:A401E;ENSP00000389892:A287E;ENSP00000327349:A222E	ENSP00000327349:A222E	A	-	2	0	TMCC1	130872172	0.001000	0.12720	0.014000	0.15608	0.685000	0.39939	-0.234000	0.09028	-0.591000	0.05859	-0.340000	0.08031	GCG		0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		T	129389482	G	T	129389482	3	4	30	1	0	0	0	0	1	0	0	0	15992	1087	38	3	771	3	TMCC1	3	129389482	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09		129389482	68632948	6	1509											
PCOLCE2	26577	genome.wustl.edu	37	3	142567221	142567221	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr3:142567221C>A	ENST00000295992.3	-	3	592	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.G96C	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	96	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGGCATGGCCATTGTACACA	0.517																																																0			3											89	85	86					3																	142567221		2203	4300	6503	144049911	SO:0001583	missense	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.286G>T	3.37:g.142567221C>A	ENSP00000295992:p.Gly96Cys		144049911	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543229	0.86022	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.27402	1.67;1.67	5.1	5.1	0.69264	CUB (5);	0.048578	0.85682	D	0.000000	T	0.73094	0.3543	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84569	0.0654	10	0.87932	D	0	-14.1669	18.7404	0.91772	0.0:1.0:0.0:0.0	.	96	Q9UKZ9	PCOC2_HUMAN	C	96	ENSP00000295992:G96C;ENSP00000419842:G96C	ENSP00000295992:G96C	G	-	1	0	PCOLCE2	144049911	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	7.320000	0.79064	2.666000	0.90696	0.644000	0.83932	GGC		0.517	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		A	142567221	C	A	142567221	3	1	30	1	0	0	0	0	1	0	0	0	11595	594	21	3	989	3	PCOLCE2	3	142567221	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09	13177739	142567221	55455209	7	1510											
SMC4	10051	genome.wustl.edu	37	3	160141294	160141294	+	Missense_Mutation	SNP	G	G	T	rs539359537		TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr3:160141294G>T	ENST00000357388.3	+	14	2552	c.2101G>T	c.(2101-2103)Gat>Tat	p.D701Y	SMC4_ENST00000462787.1_Missense_Mutation_p.D701Y|SMC4_ENST00000469762.1_Missense_Mutation_p.D676Y|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D701Y|SMC4_ENST00000360111.2_Missense_Mutation_p.D701Y	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	701	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAGTAAAAGATGAGAAAAT	0.338																																																0			3											82	93	90					3																	160141294		2198	4299	6497	161623988	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2101G>T	3.37:g.160141294G>T	ENSP00000349961:p.Asp701Tyr		161623988	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375386	0.82682	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.96	4.16	0.48862	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.042608	0.85682	D	0.000000	D	0.96097	0.8728	H	0.97465	4.01	0.80722	D	1	D;D;D;D	0.76494	0.995;0.99;0.993;0.999	D;D;P;D	0.71656	0.931;0.971;0.88;0.974	D	0.96234	0.9170	10	0.87932	D	0	-25.75	12.1431	0.54008	0.1398:0.0:0.8602:0.0	.	701;676;676;701	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	Y	701;701;676;701;701;295	ENSP00000349961:D701Y;ENSP00000353225:D701Y;ENSP00000417964:D676Y;ENSP00000420734:D701Y;ENSP00000341382:D701Y	ENSP00000341382:D701Y	D	+	1	0	SMC4	161623988	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.409000	0.73289	0.841000	0.35020	0.650000	0.86243	GAT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			T	160141294	G	T	160141294	3	4	30	1	0	0	0	0	1	0	0	0	14788	942	33	3	2151	3	SMC4	3	160141294	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09	17574073	160141294	37881136	8	1511											
SLC4A4	8671	genome.wustl.edu	37	4	72423492	72423492	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr4:72423492C>T	ENST00000264485.5	+	22	2944	c.2827C>T	c.(2827-2829)Cgt>Tgt	p.R943C	SLC4A4_ENST00000351898.6_Missense_Mutation_p.R859C|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R943C|SLC4A4_ENST00000340595.3_Missense_Mutation_p.R899C	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	943					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CATCTACCTGCGTCATGTTCC	0.512																																																0			4											155	125	135					4																	72423492		2203	4300	6503	72642356	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2827C>T	4.37:g.72423492C>T	ENSP00000264485:p.Arg943Cys		72642356	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867295	0.91511	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;T;D	0.81739	-1.53;-1.53;-1.09;-1.53	5.95	5.95	0.96441	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93429	0.7904	H	0.95187	3.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.983;1.0;1.0	D	0.94427	0.7646	10	0.87932	D	0	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	943;859;899;943	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	C	943;943;859;899	ENSP00000264485:R943C;ENSP00000393557:R943C;ENSP00000307349:R859C;ENSP00000344272:R899C	ENSP00000264485:R943C	R	+	1	0	SLC4A4	72642356	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.862000	0.56009	2.826000	0.97356	0.563000	0.77884	CGT		0.512	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		T	72423492	C	T	72423492	3	4	30	1	0	0	0	0	1	0	0	0	14659	768	27	1	3030	1	SLC4A4	4	72423492	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09		72423492	118730784	9	1512											
ADCY2	108	genome.wustl.edu	37	5	7804770	7804770	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr5:7804770G>T	ENST00000338316.4	+	22	2937	c.2848G>T	c.(2848-2850)Ggt>Tgt	p.G950C	ADCY2_ENST00000537121.1_Missense_Mutation_p.G770C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	950					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCAGCAACAGGTCTGAGCGC	0.527																																																0			5											81	74	76					5																	7804770		2203	4300	6503	7857770	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2848G>T	5.37:g.7804770G>T	ENSP00000342952:p.Gly950Cys		7857770	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658956	0.88154	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.46451	0.87;0.87	4.72	4.72	0.59763	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89507	0.3768	10	0.87932	D	0	.	18.0341	0.89293	0.0:0.0:1.0:0.0	.	770;950	B7Z2C1;Q08462	.;ADCY2_HUMAN	C	950;103;783;770	ENSP00000342952:G950C;ENSP00000444803:G770C	ENSP00000342952:G950C	G	+	1	0	ADCY2	7857770	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.451000	0.97610	2.336000	0.79503	0.491000	0.48974	GGT		0.527	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7804770	G	T	7804770	3	4	30	1	0	0	0	0	1	0	0	0	294	1000	35	3	2934	3	ADCY2	5	7804770	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09		7804770	173110490	10	1513											
DDX4	54514	genome.wustl.edu	37	5	55059883	55059883	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr5:55059883T>A	ENST00000505374.1	+	6	417	c.325T>A	c.(325-327)Ttc>Atc	p.F109I	DDX4_ENST00000514278.2_Missense_Mutation_p.F109I|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000511853.1_5'Flank|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000353507.5_Missense_Mutation_p.F109I|DDX4_ENST00000354991.5_Missense_Mutation_p.F109I	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	109	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TAGCTCTGGTTTCTGGAGAGG	0.328																																																0			5											161	163	162					5																	55059883		2203	4300	6503	55095640	SO:0001583	missense	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.325T>A	5.37:g.55059883T>A	ENSP00000424838:p.Phe109Ile		55095640	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.072931	0.55646	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T;T	0.58358	1.99;1.94;2.04;3.46;0.37;0.35;1.99;0.34	4.82	3.67	0.42095	.	0.128282	0.35466	N	0.003196	T	0.59074	0.2167	L	0.47716	1.5	0.38813	D	0.955451	P;D;D	0.64830	0.913;0.985;0.994	P;P;D	0.74348	0.549;0.805;0.983	T	0.57063	-0.7875	10	0.28530	T	0.3	-22.2408	6.8744	0.24139	0.0:0.1035:0.0:0.8965	.	109;109;109	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	I	109;109;109;109;83;109;109;109	ENSP00000334167:F109I;ENSP00000425359:F109I;ENSP00000424838:F109I;ENSP00000427167:F109I;ENSP00000424779:F83I;ENSP00000424112:F109I;ENSP00000347087:F109I;ENSP00000427522:F109I	ENSP00000334167:F109I	F	+	1	0	DDX4	55095640	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.914000	0.39966	0.871000	0.35750	0.482000	0.46254	TTC		0.328	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		A	55059883	T	A	55059883	3	1	30	1	0	0	0	0	1	0	0	0	4360	1841	64	5	343	5	DDX4	5	55059883	Missense_Mutation	SNP	T	TCGA-04-1644-01B-01D-1526-09	47255113	55059883	125855377	11	1514											
MSH3	4437	genome.wustl.edu	37	5	80088623	80088623	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr5:80088623G>T	ENST00000265081.6	+	19	2695	c.2615G>T	c.(2614-2616)gGa>gTa	p.G872V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	872					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GTGTTGCTGGGAGAACAGGAT	0.323								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)											0			5											98	100	99					5																	80088623		2203	4298	6501	80124379	SO:0001583	missense	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2615G>T	5.37:g.80088623G>T	ENSP00000265081:p.Gly872Val		80124379	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703674	0.68501	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.88201	-2.35	5.41	4.53	0.55603	DNA mismatch repair protein MutS, C-terminal (1);	0.281902	0.40469	N	0.001085	D	0.89931	0.6858	L	0.39633	1.23	0.58432	D	0.999995	D	0.76494	0.999	D	0.73708	0.981	D	0.87909	0.2696	9	.	.	.	-15.5712	8.8854	0.35400	0.166:0.0:0.834:0.0	.	872	P20585	MSH3_HUMAN	V	872;863	ENSP00000265081:G872V	.	G	+	2	0	MSH3	80124379	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.649000	0.67936	2.520000	0.84964	0.650000	0.86243	GGA		0.323	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		T	80088623	G	T	80088623	3	4	30	1	0	0	0	0	1	0	0	0	9871	1174	41	3	2689	3	MSH3	5	80088623	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09	25028740	80088623	100826637	12	1515											
CTNNA1	1495	genome.wustl.edu	37	5	138145786	138145786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr5:138145786C>T	ENST00000302763.7	+	4	451	c.361C>T	c.(361-363)Cga>Tga	p.R121*	CTNNA1_ENST00000355078.5_Nonsense_Mutation_p.R18*|CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.R121*	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	121	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTGTGAAGCGAGGCAACAT	0.468																																																0			5											115	111	112					5																	138145786		2203	4300	6503	138173685	SO:0001587	stop_gained	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.361C>T	5.37:g.138145786C>T	ENSP00000304669:p.Arg121*		138173685	Q12795|Q8N1C0	Nonsense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706917	0.68615	.	.	ENSG00000044115	ENST00000522227;ENST00000523912;ENST00000355078;ENST00000302763;ENST00000518910;ENST00000537034;ENST00000541863;ENST00000518245;ENST00000519113;ENST00000520158;ENST00000518825	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5035	19.6064	0.95583	0.0:1.0:0.0:0.0	.	.	.	.	X	121;121;18;121;18;121;121;91;121;121;121	.	.	R	+	1	2	CTNNA1	138173685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.218000	0.51192	2.795000	0.96236	0.655000	0.94253	CGA		0.468	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		T	138145786	C	T	138145786	4	4	30	1	0	0	0	0	0	1	0	0	4012	760	27	1	371	1	CTNNA1	5	138145786	Nonsense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09	58057163	138145786	42769474	13	1516											
GRM6	2916	genome.wustl.edu	37	5	178409966	178409966	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr5:178409966A>G	ENST00000517717.1	-	10	2419	c.2381T>C	c.(2380-2382)aTc>aCc	p.I794T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.I794T			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	794					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)			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)		CAGCCAGATGATGCAGGTGGT	0.587																																																0			5											118	97	104					5																	178409966		2203	4300	6503	178342572	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.2381T>C	5.37:g.178409966A>G	ENSP00000430767:p.Ile794Thr		178342572		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955908	0.73902	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89875	-2.58;-2.58	4.79	4.79	0.61399	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.94046	0.8092	M	0.83483	2.645	0.58432	D	0.999994	D;D	0.76494	0.999;0.987	D;P	0.72625	0.978;0.867	D	0.94629	0.7820	9	0.72032	D	0.01	.	12.5935	0.56454	1.0:0.0:0.0:0.0	.	794;88	O15303;Q5HYM4	GRM6_HUMAN;.	T	794	ENSP00000231188:I794T;ENSP00000430767:I794T	ENSP00000231188:I794T	I	-	2	0	GRM6	178342572	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	9.144000	0.94629	1.934000	0.56057	0.260000	0.18958	ATC		0.587	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			G	178409966	A	G	178409966	3	3	30	1	0	0	0	0	1	0	0	0	6801	333	12	4	260	4	GRM6	5	178409966	Missense_Mutation	SNP	A	TCGA-04-1644-01B-01D-1526-09	40264180	178409966	2505294	14	1517											
SERPINB6	5269	genome.wustl.edu	37	6	2959420	2959420	+	Silent	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr6:2959420G>A	ENST00000380520.1	-	1	2141	c.147C>T	c.(145-147)acC>acT	p.T49T	SERPINB6_ENST00000380546.3_Silent_p.T49T|SERPINB6_ENST00000380524.1_Silent_p.T49T|SERPINB6_ENST00000335686.5_Silent_p.T49T|SERPINB6_ENST00000380529.1_Silent_p.T49T|SERPINB6_ENST00000380539.1_Silent_p.T49T			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	49					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TCTGTGCAGCGGTGTTTCCCT	0.517																																																0			6											110	96	100					6																	2959420		2203	4300	6503	2904419	SO:0001819	synonymous_variant	5269			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"Serine (or cysteine) peptidase inhibitors"	8950	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase"	173321	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6", "deafness, autosomal recessive 91"	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.147C>T	6.37:g.2959420G>A			2904419	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Silent	SNP	ENST00000380520.1	37	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	G	8.222	0.802642	0.16397	.	.	ENSG00000124570	ENST00000380500	.	.	.	5.11	-6.22	0.02058	.	.	.	.	.	T	0.28665	0.0710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42207	-0.9465	4	.	.	.	.	5.8759	0.18828	0.6075:0.0982:0.1951:0.0991	.	.	.	.	L	38	.	.	P	-	2	0	SERPINB6	2904419	0.000000	0.05858	0.025000	0.17156	0.888000	0.51559	-2.431000	0.01023	-1.518000	0.01778	-0.469000	0.05056	CCG		0.517	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			A	2959420	G	A	2959420	2	1	30	1	0	0	0	0	0	0	0	1	14108	1103	39	1		1	SERPINB6	6	2959420	Silent	SNP	G	TCGA-04-1644-01B-01D-1526-09		2959420	168155647	15	1518											
SKIV2L	6499	genome.wustl.edu	37	6	31931495	31931495	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr6:31931495G>C	ENST00000375394.2	+	15	1745	c.1632G>C	c.(1630-1632)caG>caC	p.Q544H	SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q351H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	544					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCACACATCAGGGGGGCCCTG	0.567																																																0			6											34	36	36					6																	31931495		1511	2709	4220	32039474	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1632G>C	6.37:g.31931495G>C	ENSP00000364543:p.Gln544His		32039474	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	5.220	0.226119	0.09916	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.70986	-0.53;-0.53	4.76	1.73	0.24493	.	0.564900	0.20633	N	0.088551	T	0.31040	0.0784	N	0.16656	0.425	0.28887	N	0.894077	B	0.32425	0.371	B	0.33750	0.169	T	0.09228	-1.0684	10	0.42905	T	0.14	-4.2506	6.3271	0.21248	0.1596:0.3695:0.4709:0.0	.	544	Q15477	SKIV2_HUMAN	H	544;386;351	ENSP00000364543:Q544H;ENSP00000442645:Q351H	ENSP00000364543:Q544H	Q	+	3	2	SKIV2L	32039474	0.994000	0.37717	1.000000	0.80357	0.194000	0.23727	1.295000	0.33377	0.603000	0.29913	0.650000	0.86243	CAG		0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			C	31931495	G	C	31931495	3	2	30	1	0	0	0	0	1	0	0	0	14362	991	35	3	1690	3	SKIV2L	6	31931495	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09	28972075	31931495	139183572	16	1519											
UNC5CL	222643	genome.wustl.edu	37	6	40999454	40999454	+	Missense_Mutation	SNP	T	T	C	rs145811250	byFrequency	TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr6:40999454T>C	ENST00000373164.1	-	5	1145	c.1085A>G	c.(1084-1086)aAt>aGt	p.N362S	UNC5CL_ENST00000470102.1_Intron|UNC5CL_ENST00000244565.3_Missense_Mutation_p.N362S			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	362	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AATGATCTCATTGGTTAGTGC	0.547													T|||	47	0.00938498	0	0.0029	5008	,	,		21145	0.004		0.004	False		,,,				2504	0.0378															0			6						T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	196	174	181		1085	3.3	1	6	dbSNP_134	181	19,8581	13.3+/-46.6	0,19,4281	yes	missense	UNC5CL	NM_173561.2	46	0,20,6483	CC,CT,TT		0.2209,0.0227,0.1538	benign	362/519	40999454	20,12986	2203	4300	6503	41107432	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1085A>G	6.37:g.40999454T>C	ENSP00000362258:p.Asn362Ser		41107432	Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	5	0.0022893772893772895	0	0.0	0	0.0	2	0.0034965034965034965	3	0.00395778364116095	T	4.971	0.180333	0.09443	2.27E-4	0.002209	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.14022	2.54;2.54	4.52	3.34	0.38264	.	0.124350	0.36482	N	0.002565	T	0.02533	0.0077	N	0.24115	0.695	0.33255	D	0.558932	B	0.02656	0.0	B	0.04013	0.001	T	0.42666	-0.9438	10	0.21540	T	0.41	-8.9542	6.7625	0.23548	0.0:0.1071:0.0:0.8929	.	362	Q8IV45	UN5CL_HUMAN	S	362	ENSP00000244565:N362S;ENSP00000362258:N362S	ENSP00000244565:N362S	N	-	2	0	UNC5CL	41107432	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	0.406000	0.21032	0.770000	0.33336	0.383000	0.25322	AAT		0.547	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		C	40999454	T	C	40999454	3	2	30	1	0	0	0	0	1	0	0	0	16994	1493	52	4	487	4	UNC5CL	6	40999454	Missense_Mutation	SNP	T	TCGA-04-1644-01B-01D-1526-09	9067959	40999454	130115613	17	1520											
AMD1	262	genome.wustl.edu	37	6	111196329	111196329	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr6:111196329C>A	ENST00000368885.3	+	1	357	c.21C>A	c.(19-21)ttC>ttA	p.F7L	AMD1_ENST00000368877.5_Missense_Mutation_p.F7L|AMD1_ENST00000451850.2_Missense_Mutation_p.F7L|AMD1_ENST00000368882.3_5'UTR|AMD1_ENST00000368876.1_5'Flank	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	7					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CACATTTTTTCGAAGGGACCG	0.562																																																0			6											56	50	52					6																	111196329		2202	4300	6502	111303022	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.21C>A	6.37:g.111196329C>A	ENSP00000357880:p.Phe7Leu		111303022	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376490	0.61735	.	.	ENSG00000123505	ENST00000368885;ENST00000451850;ENST00000368877	.	.	.	5.08	3.31	0.37934	S-adenosylmethionine decarboxylase, core (2);	0.048649	0.85682	D	0.000000	T	0.81034	0.4739	H	0.95402	3.665	0.80722	D	1	P;D;D	0.89917	0.778;1.0;1.0	B;D;D	0.87578	0.295;0.992;0.998	T	0.83223	-0.0067	9	0.87932	D	0	.	8.7584	0.34658	0.0:0.7698:0.0:0.2302	.	7;7;7	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	L	7	.	ENSP00000357871:F7L	F	+	3	2	AMD1	111303022	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.534000	0.53568	0.559000	0.29153	0.555000	0.69702	TTC		0.562	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			A	111196329	C	A	111196329	3	1	30	1	0	0	0	0	1	0	0	0	566	883	31	3	23	3	AMD1	6	111196329	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09	70196875	111196329	59918738	18	1521											
THBS2	7058	genome.wustl.edu	37	6	169637845	169637845	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr6:169637845T>A	ENST00000366787.3	-	9	1424	c.1175A>T	c.(1174-1176)cAg>cTg	p.Q392L	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	392	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACGGAGCACTGGGTCCACTC	0.657																																					Esophageal Squamous(91;219 1934 18562 44706)											0			6											86	67	73					6																	169637845		2203	4300	6503	169379770	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1175A>T	6.37:g.169637845T>A	ENSP00000355751:p.Gln392Leu		169379770	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	t	12.87	2.068378	0.36470	.	.	ENSG00000186340	ENST00000366787	T	0.54675	0.56	4.75	3.54	0.40534	.	0.361892	0.19542	U	0.111766	T	0.22126	0.0533	L	0.28458	0.855	0.25993	N	0.982229	B	0.14805	0.011	B	0.23852	0.049	T	0.20472	-1.0274	10	0.44086	T	0.13	-28.8016	11.2686	0.49124	0.0:0.0:0.1535:0.8465	.	392	P35442	TSP2_HUMAN	L	392	ENSP00000355751:Q392L	ENSP00000355751:Q392L	Q	-	2	0	THBS2	169379770	0.998000	0.40836	0.201000	0.23476	0.287000	0.27160	5.790000	0.69038	0.628000	0.30357	0.451000	0.29950	CAG		0.657	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		A	169637845	T	A	169637845	3	1	30	1	0	0	0	0	1	0	0	0	15854	1580	55	5	2403	5	THBS2	6	169637845	Missense_Mutation	SNP	T	TCGA-04-1644-01B-01D-1526-09	58441516	169637845	1477222	19	1522											
AKR1B1	231	genome.wustl.edu	37	7	134136399	134136399	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr7:134136399G>A	ENST00000285930.4	-	2	252	c.173C>T	c.(172-174)gCc>gTc	p.A58V	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	58					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	CTCCTGAATGGCCACCCCCAC	0.612																																																0			7											107	84	92					7																	134136399		2203	4300	6503	133786939	SO:0001583	missense	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.173C>T	7.37:g.134136399G>A	ENSP00000285930:p.Ala58Val		133786939	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702087	0.68501	.	.	ENSG00000085662	ENST00000285930	T	0.28666	1.6	5.23	5.23	0.72850	NADP-dependent oxidoreductase domain (3);	0.049589	0.85682	D	0.000000	T	0.34542	0.0901	M	0.62209	1.925	0.44908	D	0.997925	P	0.40000	0.698	B	0.39217	0.294	T	0.25293	-1.0136	10	0.72032	D	0.01	.	14.567	0.68185	0.0:0.1572:0.8428:0.0	.	58	P15121	ALDR_HUMAN	V	58	ENSP00000285930:A58V	ENSP00000285930:A58V	A	-	2	0	AKR1B1	133786939	0.619000	0.27059	0.991000	0.47740	0.828000	0.46876	1.003000	0.29809	2.608000	0.88229	0.561000	0.74099	GCC		0.612	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		A	134136399	G	A	134136399	3	1	30	1	0	0	0	0	1	0	0	0	466	1203	42	2	813	2	AKR1B1	7	134136399	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09		134136399	25002264	20	1523											
ZCCHC7	84186	genome.wustl.edu	37	9	37126555	37126555	+	Missense_Mutation	SNP	G	G	A	rs149802071	byFrequency	TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr9:37126555G>A	ENST00000336755.5	+	2	332	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.V75I	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	76						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GAAGCTAATCGTCCTTTCAGA	0.408													G|||	2	0.000399361	0	0	5008	,	,		23606	0		0	False		,,,				2504	0.002															0			9						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	161	156	158		226	2.6	1	9	dbSNP_134	158	0,8600		0,0,4300	no	missense	ZCCHC7	NM_032226.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	76/544	37126555	1,13005	2203	4300	6503	37116555	SO:0001583	missense	84186			AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.226G>A	9.37:g.37126555G>A	ENSP00000337839:p.Val76Ile		37116555	B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	G	5.314	0.243271	0.10077	2.27E-4	0.0	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.44881	1.49;0.91	5.64	2.61	0.31194	.	0.490152	0.21351	N	0.075969	T	0.26376	0.0644	L	0.29908	0.895	0.80722	D	1	B;B	0.21821	0.061;0.05	B;B	0.14578	0.011;0.011	T	0.04737	-1.0930	10	0.12430	T	0.62	.	10.1219	0.42625	0.2112:0.0:0.7888:0.0	.	76;76	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	I	76;75	ENSP00000337839:V76I;ENSP00000316365:V75I	ENSP00000316365:V75I	V	+	1	0	ZCCHC7	37116555	0.976000	0.34144	1.000000	0.80357	0.175000	0.22909	0.506000	0.22658	0.731000	0.32448	0.637000	0.83480	GTC		0.408	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		A	37126555	G	A	37126555	3	1	30	1	0	0	0	0	1	0	0	0	17593	1145	40	1	228	1	ZCCHC7	9	37126555	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09		37126555	104086876	21	1524											
MPP7	143098	genome.wustl.edu	37	10	28378746	28378746	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr10:28378746A>C	ENST00000375732.1	-	12	1236	c.977T>G	c.(976-978)cTt>cGt	p.L326R	MPP7_ENST00000337532.5_Missense_Mutation_p.L326R|MPP7_ENST00000375719.3_Missense_Mutation_p.L326R|MPP7_ENST00000540098.1_Missense_Mutation_p.L326R|MPP7_ENST00000445954.2_Missense_Mutation_p.L201R			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	326					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTTTCTACTAAGACGAAAACT	0.323																																																0			10											134	114	121					10																	28378746		2203	4300	6503	28418752	SO:0001583	missense	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.977T>G	10.37:g.28378746A>C	ENSP00000364884:p.Leu326Arg		28418752	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289827	0.80914	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	D;D;D;D;T;D	0.81659	-1.52;-1.52;-1.52;-1.52;1.42;-1.52	5.79	5.79	0.91817	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.87593	0.6216	M	0.77103	2.36	0.80722	D	1	D	0.58620	0.983	P	0.59703	0.862	D	0.85847	0.1401	10	0.24483	T	0.36	.	16.1193	0.81336	1.0:0.0:0.0:0.0	.	326	Q5T2T1	MPP7_HUMAN	R	326;326;326;326;87;201	ENSP00000364884:L326R;ENSP00000337907:L326R;ENSP00000438693:L326R;ENSP00000364871:L326R;ENSP00000398319:L87R;ENSP00000405397:L201R	ENSP00000337907:L326R	L	-	2	0	MPP7	28418752	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.954000	0.93051	2.201000	0.70794	0.533000	0.62120	CTT		0.323	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		C	28378746	A	C	28378746	3	2	30	1	0	0	0	0	1	0	0	0	9739	72	3	5	777	5	MPP7	10	28378746	Missense_Mutation	SNP	A	TCGA-04-1644-01B-01D-1526-09		28378746	107156001	22	1525											
MUC6	4588	genome.wustl.edu	37	11	1016919	1016919	+	Missense_Mutation	SNP	C	C	T	rs536595477	byFrequency	TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr11:1016919C>T	ENST00000421673.2	-	31	5932	c.5882G>A	c.(5881-5883)aGg>aAg	p.R1961K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1961	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGGTAGCCTGCTGCTGCT	0.587													C|||	4	0.000798722	0	0	5008	,	,		24077	0.004		0	False		,,,				2504	0															0			11											694	713	707					11																	1016919		2203	4295	6498	1006919	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5882G>A	11.37:g.1016919C>T	ENSP00000406861:p.Arg1961Lys		1006919	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	0.232	-1.020016	0.02078	.	.	ENSG00000184956	ENST00000421673	T	0.17854	2.25	3.12	-4.2	0.03823	.	.	.	.	.	T	0.06917	0.0176	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41106	-0.9527	9	0.16896	T	0.51	.	5.8138	0.18481	0.0:0.5175:0.1322:0.3502	.	1961	Q6W4X9	MUC6_HUMAN	K	1961	ENSP00000406861:R1961K	ENSP00000406861:R1961K	R	-	2	0	MUC6	1006919	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.310000	0.00517	-1.090000	0.03069	-1.305000	0.01319	AGG		0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016919	C	T	1016919	3	4	30	1	0	0	0	0	1	0	0	0	9980	681	24	2	1449	2	MUC6	11	1016919	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09		1016919	133989597	23	1526											
ABCC8	6833	genome.wustl.edu	37	11	17432122	17432122	+	Missense_Mutation	SNP	C	C	G	rs531684936		TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr11:17432122C>G	ENST00000389817.3	-	22	2703	c.2635G>C	c.(2635-2637)Gac>Cac	p.D879H	ABCC8_ENST00000302539.4_Missense_Mutation_p.D880H			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	879	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GTCCTCTTGTCGTCCCGGAGC	0.582																																																0			11											149	130	137					11																	17432122		2200	4293	6493	17388698	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2635G>C	11.37:g.17432122C>G	ENSP00000374467:p.Asp879His		17388698	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142763	0.94560	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.88975	-2.45;-2.45	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050131	0.85682	D	0.000000	D	0.87700	0.6243	N	0.04148	-0.265	0.80722	D	1	D	0.71674	0.998	D	0.66084	0.941	D	0.89228	0.3575	10	0.44086	T	0.13	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	879	Q09428	ABCC8_HUMAN	H	879;880;883	ENSP00000374467:D879H;ENSP00000303960:D880H	ENSP00000303960:D880H	D	-	1	0	ABCC8	17388698	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.506000	0.81665	2.941000	0.99782	0.655000	0.94253	GAC		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		G	17432122	C	G	17432122	3	3	30	1	0	0	0	0	1	0	0	0	58	884	31	3	2182	3	ABCC8	11	17432122	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09	16415203	17432122	117574394	24	1527											
PRDX5	25824	genome.wustl.edu	37	11	64085793	64085793	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr11:64085793G>A	ENST00000265462.4	+	1	234	c.106G>A	c.(106-108)Gga>Aga	p.G36R	TRMT112_ENST00000535126.1_5'Flank|PRDX5_ENST00000347941.4_Missense_Mutation_p.G36R|PRDX5_ENST00000352435.4_Missense_Mutation_p.G36R|TRMT112_ENST00000535750.1_5'Flank|TRMT112_ENST00000308774.2_5'Flank|TRMT112_ENST00000544844.1_5'Flank|TRMT112_ENST00000539854.1_5'Flank	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	36					cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	GTACAGTGAAGGAGAGTGGGC	0.677																																																0			11											33	32	32					11																	64085793		2198	4295	6493	63842369	SO:0001583	missense	25824			AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"antioxidant enzyme B166", "thioredoxin peroxidase PMP20", "peroxisomal antioxidant enzyme", "TPx type VI", "liver tissue 2D-page spot 71B", "Alu co-repressor 1"	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.106G>A	11.37:g.64085793G>A	ENSP00000265462:p.Gly36Arg		63842369	A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Missense_Mutation	SNP	ENST00000265462.4	37	CCDS8069.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719633	0.68844	.	.	ENSG00000126432	ENST00000265462;ENST00000352435;ENST00000347941	T;T;T	0.58652	0.81;0.73;0.32	3.18	-3.05	0.05396	.	1.056860	0.07622	U	0.927192	T	0.34279	0.0892	N	0.19112	0.55	0.09310	N	1	B;B;P	0.48911	0.002;0.0;0.917	B;B;B	0.40329	0.005;0.001;0.326	T	0.25398	-1.0133	10	0.21540	T	0.41	-1.7108	5.2964	0.15754	0.2729:0.2542:0.4728:0.0	.	36;36;36	A6NC19;A6NG06;P30044	.;.;PRDX5_HUMAN	R	36	ENSP00000265462:G36R;ENSP00000335334:G36R;ENSP00000335363:G36R	ENSP00000265462:G36R	G	+	1	0	PRDX5	63842369	0.000000	0.05858	0.000000	0.03702	0.552000	0.35366	-0.749000	0.04813	-0.616000	0.05671	0.306000	0.20318	GGA		0.677	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1	NM_181651		A	64085793	G	A	64085793	3	1	30	1	0	0	0	0	1	0	0	0	12471	1001	35	2	108	2	PRDX5	11	64085793	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09	46653671	64085793	70920723	25	1528											
UBE3B	89910	genome.wustl.edu	37	12	109940840	109940840	+	Missense_Mutation	SNP	G	G	A	rs141849006		TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr12:109940840G>A	ENST00000342494.3	+	14	1890	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	UBE3B_ENST00000434735.2_Missense_Mutation_p.R432H|UBE3B_ENST00000280774.5_Missense_Mutation_p.R432H|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	432					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCCTAAAGCGTGCTTTTCAA	0.507																																																0			12						G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	131	128	129		1295,1295	5.8	1	12	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UBE3B	NM_130466.2,NM_183415.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	432/1069,432/1069	109940840	1,13005	2203	4300	6503	108425223	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1295G>A	12.37:g.109940840G>A	ENSP00000340596:p.Arg432His		108425223	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040134	0.93630	0.0	1.16E-4	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.50548	1.07;0.74;1.33;1.07	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.67707	-0.5601	10	0.52906	T	0.07	-24.2758	18.6619	0.91474	0.0:0.0:1.0:0.0	.	432	Q7Z3V4	UBE3B_HUMAN	H	432	ENSP00000391529:R432H;ENSP00000280774:R432H;ENSP00000443131:R432H;ENSP00000340596:R432H	ENSP00000280774:R432H	R	+	2	0	UBE3B	108425223	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.952000	0.93031	2.741000	0.93983	0.655000	0.94253	CGT		0.507	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		A	109940840	G	A	109940840	3	1	30	1	0	0	0	0	1	0	0	0	16880	1145	40	1	1341	1	UBE3B	12	109940840	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09		109940840	23911055	26	1529											
RTN1	6252	genome.wustl.edu	37	14	60074109	60074109	+	Missense_Mutation	SNP	C	C	T	rs577799438		TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr14:60074109C>T	ENST00000267484.5	-	4	2202	c.1867G>A	c.(1867-1869)Gtc>Atc	p.V623I	RTN1_ENST00000395090.1_Missense_Mutation_p.V40I|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.V55I	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	623	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TAGGCCACGACGCTCACCACG	0.562													C|||	1	0.000199681	0	0	5008	,	,		18474	0		0	False		,,,				2504	0.001															0			14											74	66	69					14																	60074109		2203	4300	6503	59143862	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1867G>A	14.37:g.60074109C>T	ENSP00000267484:p.Val623Ile		59143862	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178861	0.94846	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.48836	0.8;0.8;0.8	5.99	5.11	0.69529	.	0.052228	0.85682	N	0.000000	T	0.73489	0.3593	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79841	-0.1633	10	0.87932	D	0	.	15.0202	0.71624	0.0:0.9324:0.0:0.0675	.	40;623;55	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	I	203;623;40;55;549	ENSP00000267484:V623I;ENSP00000378525:V40I;ENSP00000340716:V55I	ENSP00000267484:V623I	V	-	1	0	RTN1	59143862	1.000000	0.71417	0.974000	0.42286	0.954000	0.61252	6.070000	0.71220	1.544000	0.49359	0.655000	0.94253	GTC		0.562	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			T	60074109	C	T	60074109	3	4	30	1	0	0	0	0	1	0	0	0	13728	536	19	1	487	1	RTN1	14	60074109	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09		60074109	47275431	27	1530											
VTI1B	10490	genome.wustl.edu	37	14	68126593	68126593	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr14:68126593C>T	ENST00000554659.1	-	3	562	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	RP11-1012A1.4_ENST00000553306.1_3'UTR|RP11-1012A1.4_ENST00000554493.1_5'UTR|5S_rRNA_ENST00000607639.1_RNA	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	74					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CATGGGGTTTCGGAAAGACAG	0.532																																																0			14											76	66	69					14																	68126593		2203	4300	6503	67196346	SO:0001583	missense	10490			AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.221G>A	14.37:g.68126593C>T	ENSP00000450731:p.Arg74Gln		67196346	O43547|Q96J28	Missense_Mutation	SNP	ENST00000554659.1	37	CCDS9786.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.656313|5.656313	0.96724|0.96724	.|.	.|.	ENSG00000258466|ENSG00000100568	ENST00000557564|ENST00000554659	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|t-SNARE (1);Vesicle transport v-SNARE, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66963|0.66963	0.2843|0.2843	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.994	.|P;P	.|0.55785	.|0.784;0.784	T|T	0.69506|0.69506	-0.5127|-0.5127	5|9	.|0.72032	.|D	.|0.01	.|.	13.4244|13.4244	0.61018|0.61018	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	.|74;74	.|A8K6M4;Q9UEU0	.|.;VTI1B_HUMAN	K|Q	88|74	.|.	.|ENSP00000216456:R74Q	E|R	-|-	1|2	0|0	RP11-1012A1.4|VTI1B	67196346|67196346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.374000|4.374000	0.59543|0.59543	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.532	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2			T	68126593	C	T	68126593	3	4	30	1	0	0	0	0	1	0	0	0	17236	884	31	1	493	1	VTI1B	14	68126593	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09	8052484	68126593	39222947	28	1531											
CYFIP1	23191	genome.wustl.edu	37	15	22958295	22958295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr15:22958295G>A	ENST00000313077.7	+	17	2063	c.1938G>A	c.(1936-1938)tgG>tgA	p.W646*	CYFIP1_ENST00000435939.2_Nonsense_Mutation_p.W215*|CYFIP1_ENST00000560848.1_Nonsense_Mutation_p.W646*	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CGATGCCCTGGATCCTGACGG	0.597																																																0			15											129	100	110					15																	22958295		2203	4300	6503	20509736	SO:0001587	stop_gained	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1938G>A	15.37:g.22958295G>A	ENSP00000324549:p.Trp646*		20509736		Nonsense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	38	7.079715	0.98048	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	.	.	.	4.96	4.05	0.47172	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4297	13.5526	0.61740	0.0757:0.0:0.9243:0.0	.	.	.	.	X	646;674;215	.	ENSP00000324549:W646X	W	+	3	0	CYFIP1	20509736	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.643000	0.98464	1.219000	0.43474	0.555000	0.69702	TGG		0.597	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		A	22958295	G	A	22958295	4	1	30	1	0	0	0	0	0	1	0	0	4137	1183	41	2	2381	2	CYFIP1	15	22958295	Nonsense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09		22958295	79573097	29	1532											
CYFIP1	23191	genome.wustl.edu	37	15	22962259	22962259	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr15:22962259A>T	ENST00000313077.7	+	19	2212	c.2087A>T	c.(2086-2088)aAt>aTt	p.N696I	CYFIP1_ENST00000435939.2_Missense_Mutation_p.N265I|CYFIP1_ENST00000560848.1_Missense_Mutation_p.N696I	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTTCAGGTGAATCTATGTTTT	0.358																																																0			15											183	171	175					15																	22962259		2203	4300	6503	20513700	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2087A>T	15.37:g.22962259A>T	ENSP00000324549:p.Asn696Ile		20513700		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631188	0.87660	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.26660	1.72;1.72	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	T	0.58235	0.2108	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.67452	-0.5667	10	0.87932	D	0	-27.7404	15.5616	0.76253	1.0:0.0:0.0:0.0	.	724;265;696	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	I	696;724;265	ENSP00000324549:N696I;ENSP00000405956:N265I	ENSP00000324549:N696I	N	+	2	0	CYFIP1	20513700	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.127000	0.94417	2.127000	0.65507	0.533000	0.62120	AAT		0.358	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	22962259	A	T	22962259	3	4	30	1	0	0	0	0	1	0	0	0	4137	101	4	5	2538	5	CYFIP1	15	22962259	Missense_Mutation	SNP	A	TCGA-04-1644-01B-01D-1526-09	3964	22962259	79569133	30	1533											
C16orf62	57020	genome.wustl.edu	37	16	19584459	19584459	+	Missense_Mutation	SNP	C	C	T	rs570834372		TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr16:19584459C>T	ENST00000251143.5	+	4	316	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	C16orf62_ENST00000542263.1_Missense_Mutation_p.R191C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R102C|C16orf62_ENST00000438132.3_Missense_Mutation_p.R191C|C16orf62_ENST00000538853.1_Missense_Mutation_p.R191C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	102						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CAGAAGGAAACGTGATAGAGA	0.403													C|||	1	0.000199681	8e-04	0	5008	,	,		16375	0		0	False		,,,				2504	0															0			16											130	128	129					16																	19584459		2197	4300	6497	19491960	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.304C>T	16.37:g.19584459C>T	ENSP00000251143:p.Arg102Cys		19491960	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	C	15.91	2.971589	0.53614	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.49432	1.47;0.78;1.47;1.47;1.47	5.32	4.36	0.52297	.	0.294944	0.30419	N	0.009667	T	0.48502	0.1503	L	0.46157	1.445	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	P;B;P	0.50896	0.653;0.401;0.648	T	0.49082	-0.8976	10	0.56958	D	0.05	-6.1474	10.1933	0.43039	0.1539:0.6978:0.1483:0.0	.	191;102;191	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	C	191;191;191;102;102	ENSP00000400815:R191C;ENSP00000444363:R191C;ENSP00000442468:R191C;ENSP00000251143:R102C;ENSP00000395973:R102C	ENSP00000251143:R102C	R	+	1	0	C16orf62	19491960	1.000000	0.71417	0.975000	0.42487	0.374000	0.29953	2.882000	0.48546	1.212000	0.43366	0.557000	0.71058	CGT		0.403	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		T	19584459	C	T	19584459	3	4	30	1	0	0	0	0	1	0	0	0	1825	536	19	1	318	1	C16orf62	16	19584459	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09		19584459	70770294	31	1534											
ITGAL	3683	genome.wustl.edu	37	16	30507785	30507785	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr16:30507785G>A	ENST00000356798.6	+	15	1910	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	ITGAL_ENST00000433423.2_Intron|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.G494E	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	577					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GTGCTCTCAGGAATTCAGTGG	0.567																																					NSCLC(110;1462 1641 3311 33990 49495)											0			16											147	133	137					16																	30507785		2197	4300	6497	30415286	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1730G>A	16.37:g.30507785G>A	ENSP00000349252:p.Gly577Glu		30415286	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007430	0.54361	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.63744	-0.06;-0.06	5.94	5.94	0.96194	.	0.000000	0.56097	D	0.000027	T	0.65312	0.2679	M	0.62723	1.935	0.80722	D	1	P;P	0.42078	0.717;0.77	P;P	0.44860	0.462;0.462	T	0.60372	-0.7276	10	0.22706	T	0.39	.	17.2761	0.87115	0.0:0.0:1.0:0.0	.	494;577	Q96HB1;P20701	.;ITAL_HUMAN	E	577;494	ENSP00000349252:G577E;ENSP00000350886:G494E	ENSP00000349252:G577E	G	+	2	0	ITGAL	30415286	0.997000	0.39634	0.999000	0.59377	0.911000	0.54048	1.590000	0.36654	2.816000	0.96949	0.563000	0.77884	GGA		0.567	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			A	30507785	G	A	30507785	3	1	30	1	0	0	0	0	1	0	0	0	7886	1174	41	2	1788	2	ITGAL	16	30507785	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09	10923326	30507785	59846968	32	1535											
TP53	7157	genome.wustl.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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"	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	17	GRCh37	CM083194|CM951225	TP53	M							97	87	90					17																	7578271		2203	4300	6503	7518996	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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg		7518996	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	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	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	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578271	T	C	7578271	3	2	30	1	0	0	0	0	1	0	0	0	16381	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-04-1644-01B-01D-1526-09		7578271	73616939	33	1536											
KLF2	10365	genome.wustl.edu	37	19	16437789	16437789	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr19:16437789C>T	ENST00000248071.5	+	3	1122	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	KLF2_ENST00000592003.1_Silent_p.I66I|CTD-2562J15.6_ENST00000588799.1_RNA	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	339					cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						TCTGTGCGATCGTGCCTTCTC	0.692																																																0			19											48	37	41					19																	16437789		2203	4300	6503	16298789	SO:0001583	missense	10365			AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6347	protein-coding gene	gene with protein product		602016	"Kruppel-like factor 2 (lung)"			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.1015C>T	19.37:g.16437789C>T	ENSP00000248071:p.Arg339Cys		16298789	Q6IPC4|Q9UJS5|Q9UKR6	Missense_Mutation	SNP	ENST00000248071.5	37	CCDS12343.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074267	0.55646	.	.	ENSG00000127528	ENST00000248071	T	0.21361	2.01	4.43	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46619	0.1402	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50939	-0.8768	9	0.87932	D	0	.	13.0961	0.59192	0.1608:0.8392:0.0:0.0	.	339	Q9Y5W3	KLF2_HUMAN	C	339	ENSP00000248071:R339C	ENSP00000248071:R339C	R	+	1	0	KLF2	16298789	1.000000	0.71417	0.999000	0.59377	0.014000	0.08584	1.548000	0.36201	2.189000	0.69895	0.467000	0.42956	CGT		0.692	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460562.1			T	16437789	C	T	16437789	3	4	30	1	0	0	0	0	1	0	0	0	8346	884	31	1	1025	1	KLF2	19	16437789	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09		16437789	42691194	34	1537											
SIRPB1	10326	genome.wustl.edu	37	20	1551655	1551655	+	Missense_Mutation	SNP	G	G	A	rs143614046		TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr20:1551655G>A	ENST00000381605.4	-	4	944	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	294	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTTTCTGTCCGGGACACATTT	0.562																																																0			20						G	,TRP/ARG	1,4405		0,1,2202	191	172	178		,880	1.2	0	20	dbSNP_134	178	0,8600		0,0,4300	no	intron,missense	SIRPB1	NM_001083910.2,NM_006065.3	,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,probably-damaging	,294/399	1551655	1,13005	2203	4300	6503	1499655	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.880C>T	20.37:g.1551655G>A	ENSP00000371018:p.Arg294Trp		1499655	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	9.453	1.091080	0.20471	2.27E-4	0.0	ENSG00000101307	ENST00000381605	T	0.03035	4.07	2.39	1.25	0.21368	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.935929	0.08842	N	0.885763	T	0.07548	0.0190	M	0.90082	3.085	0.09310	N	1	P	0.37688	0.605	B	0.30943	0.122	T	0.28996	-1.0026	10	0.62326	D	0.03	.	6.2433	0.20803	0.0:0.3186:0.6814:0.0	.	294	O00241	SIRB1_HUMAN	W	294	ENSP00000371018:R294W	ENSP00000371018:R294W	R	-	1	2	SIRPB1	1499655	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.086000	0.11233	1.330000	0.45394	0.313000	0.20887	CGG		0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		A	1551655	G	A	1551655	3	1	30	1	0	0	0	0	1	0	0	0	14336	1115	39	1	324	1	SIRPB1	20	1551655	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09		1551655	61473865	35	1538											
CPNE1	8904	genome.wustl.edu	37	20	34219655	34219655	+	Silent	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr20:34219655G>A	ENST00000317619.3	-	9	976	c.582C>T	c.(580-582)gtC>gtT	p.V194V	CPNE1_ENST00000317677.5_Silent_p.V199V|CPNE1_ENST00000352393.4_Silent_p.V194V|CPNE1_ENST00000397443.1_Silent_p.V194V|CPNE1_ENST00000397446.1_Silent_p.V194V|CPNE1_ENST00000397442.1_Silent_p.V194V|CPNE1_ENST00000397445.1_Silent_p.V194V			Q99829	CPNE1_HUMAN	copine I	194	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCTGAACGGGGACTGAGAAAC	0.592																																																0			20											109	98	101					20																	34219655		2203	4300	6503	33683069	SO:0001819	synonymous_variant	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.582C>T	20.37:g.34219655G>A			33683069	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Silent	SNP	ENST00000317619.3	37	CCDS13260.1																																																																																				0.592	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		A	34219655	G	A	34219655	2	1	30	1	0	0	0	0	0	0	0	1	3811	1161	41	2		2	CPNE1	20	34219655	Silent	SNP	G	TCGA-04-1644-01B-01D-1526-09	32668000	34219655	28805865	36	1539											
LZTR1	8216	genome.wustl.edu	37	22	21345967	21345967	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chr22:21345967C>T	ENST00000215739.8	+	9	1201	c.842C>T	c.(841-843)cCg>cTg	p.P281L	LZTR1_ENST00000389355.3_Missense_Mutation_p.P262L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	281					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P281L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCACCACCCCCGCAGCGGCGC	0.632																																																1	Substitution - Missense(1)	lung(1)	22											30	28	28					22																	21345967		2202	4295	6497	19675967	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.842C>T	22.37:g.21345967C>T	ENSP00000215739:p.Pro281Leu		19675967	Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088414	0.94100	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.70986	-0.53;-0.53	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.106961	0.64402	D	0.000004	D	0.84079	0.5393	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.78314	0.975;0.991;0.967;0.894	D	0.86279	0.1666	10	0.87932	D	0	-20.5054	16.1666	0.81759	0.0:1.0:0.0:0.0	.	262;240;281;240	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	L	240;281;262	ENSP00000215739:P281L;ENSP00000374006:P262L	ENSP00000215739:P281L	P	+	2	0	LZTR1	19675967	1.000000	0.71417	0.938000	0.37757	0.894000	0.52154	7.462000	0.80851	2.409000	0.81822	0.407000	0.27541	CCG		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		T	21345967	C	T	21345967	3	4	30	1	0	0	0	0	1	0	0	0	9137	652	23	1	876	1	LZTR1	22	21345967	Missense_Mutation	SNP	C	TCGA-04-1644-01B-01D-1526-09		21345967	29958599	37	1540											
RPGR	6103	genome.wustl.edu	37	X	38135964	38135964	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chrX:38135964G>A	ENST00000339363.3	-	15	2749	c.2582C>T	c.(2581-2583)gCt>gTt	p.A861V	RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Missense_Mutation_p.A656V|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.A594V			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	861	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACATTTTCAGCATTAATTTC	0.358																																																0			X											221	178	192					X																	38135964		2201	4300	6501	38020908	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2582C>T	X.37:g.38135964G>A	ENSP00000343671:p.Ala861Val		38020908	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	G	5.168	0.216536	0.09810	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842	T;T;T	0.19105	2.31;3.64;2.17	3.34	-0.955	0.10356	.	.	.	.	.	T	0.05410	0.0143	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36212	-0.9757	9	0.28530	T	0.3	.	3.3956	0.07304	0.3003:0.0:0.4676:0.2321	.	656	Q92834-2	.	V	861;594;656	ENSP00000343671:A861V;ENSP00000308783:A594V;ENSP00000322219:A656V	ENSP00000308783:A594V	A	-	2	0	RPGR	38020908	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.425000	0.02446	-0.260000	0.09418	-0.195000	0.12781	GCT		0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		A	38135964	G	A	38135964	3	1	30	1	0	0	0	0	1	0	0	0	13551	971	34	2	496	2	RPGR	23	38135964	Missense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09		38135964	117134596	38	1541											
PHF8	23133	genome.wustl.edu	37	X	54069219	54069219	+	Silent	SNP	G	G	A			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chrX:54069219G>A	ENST00000357988.5	-	2	409	c.51C>T	c.(49-51)ccC>ccT	p.P17P	PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000462182.1_5'Flank|PHF8_ENST00000338154.6_5'UTR|PHF8_ENST00000322659.8_5'UTR	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	17					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CAAGAGGGGCGGGAGGCGGCA	0.642											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X																																								54085944	SO:0001819	synonymous_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.51C>T	X.37:g.54069219G>A		997	54085944	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	CCDS55420.1																																																																																				0.642	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		A	54069219	G	A	54069219	2	1	30	1	0	0	0	0	0	0	0	1	11840	1103	39	1		1	PHF8	23	54069219	Silent	SNP	G	TCGA-04-1644-01B-01D-1526-09	15933255	54069219	101201341	39	1542											
SH3BGRL	6451	genome.wustl.edu	37	X	80532588	80532588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-04-1644-01B-01D-1526-09	TCGA-04-1644-11A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	830f887f-acb6-47a8-a759-eae2b906894b	abb2536d-63bf-4556-951d-c102116dc80f	g.chrX:80532588G>T	ENST00000373212.5	+	2	409	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamate-rich protein like	51					positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				GTGGATGAGAGAAAATGTACC	0.403																																																0			X											71	65	67					X																	80532588		2203	4300	6503	80419244	SO:0001587	stop_gained	6451			AF042081	CCDS14449.1	Xq13.3	2014-02-19	2014-02-19		ENSG00000131171	ENSG00000131171			10823	protein-coding gene	gene with protein product		300190	"SH3 domain binding glutamic acid-rich protein like"			9642120	Standard	NM_003022		Approved	MGC117402	uc004eef.3	O75368	OTTHUMG00000021910	ENST00000373212.5:c.151G>T	X.37:g.80532588G>T	ENSP00000362308:p.Glu51*		80419244	Q3SYL1|Q5JT50|Q6FIE8|Q9H0N8	Nonsense_Mutation	SNP	ENST00000373212.5	37	CCDS14449.1	.	.	.	.	.	.	.	.	.	.	G	39	7.391922	0.98255	.	.	ENSG00000131171	ENST00000373212	.	.	.	5.7	5.7	0.88788	.	0.047873	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-7.1088	17.6307	0.88106	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000362308:E51X	E	+	1	0	SH3BGRL	80419244	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.081000	0.94049	2.380000	0.81148	0.600000	0.82982	GAA		0.403	SH3BGRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057350.1	NM_003022		T	80532588	G	T	80532588	4	4	30	1	0	0	0	0	0	1	0	0	14244	943	33	3	157	3	SH3BGRL	23	80532588	Nonsense_Mutation	SNP	G	TCGA-04-1644-01B-01D-1526-09	26463369	80532588	74737972	40	1543											
MAST2	23139	genome.wustl.edu	37	1	46500212	46500212	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr1:46500212G>A	ENST00000361297.2	+	29	4154	c.3871G>A	c.(3871-3873)Gga>Aga	p.G1291R	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTACAAAGTGGGAGGGAATTC	0.582																																																0			1											35	40	38					1																	46500212		2089	4222	6311	46272799	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3871G>A	1.37:g.46500212G>A	ENSP00000354671:p.Gly1291Arg		46272799		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.305265	0.60305	.	.	ENSG00000086015	ENST00000361297	T	0.34667	1.35	4.22	3.3	0.37823	.	0.294871	0.36555	N	0.002527	T	0.33933	0.0880	L	0.43152	1.355	0.80722	D	1	P	0.45474	0.859	B	0.44044	0.439	T	0.14868	-1.0457	10	0.52906	T	0.07	-2.2056	12.1541	0.54066	0.0845:0.0:0.9155:0.0	.	1291	Q6P0Q8	MAST2_HUMAN	R	1291	ENSP00000354671:G1291R	ENSP00000354671:G1291R	G	+	1	0	MAST2	46272799	1.000000	0.71417	0.946000	0.38457	0.705000	0.40729	9.534000	0.98061	1.113000	0.41760	0.558000	0.71614	GGA		0.582	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		A	46500212	G	A	46500212	3	1	31	1	0	0	0	0	1	0	0	0	9325	1233	43	2	3985	2	MAST2	1	46500212	Missense_Mutation	SNP	G	TCGA-04-1646-01A-01W-0639-09		46500212	202750409	1	1544											
SDHC	6391	genome.wustl.edu	37	1	161284214	161284214	+	Splice_Site	SNP	A	A	C			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr1:161284214A>C	ENST00000367975.2	+	1	168	c.19A>C	c.(19-21)Aga>Cga	p.R7R	SDHC_ENST00000513009.1_Splice_Site_p.R7R|SDHC_ENST00000432287.2_Splice_Site_p.R7R|SDHC_ENST00000392169.2_Splice_Site_p.S7R|SDHC_ENST00000342751.4_Splice_Site_p.R7R	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	7					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	GCTGTTGCTGAGGTGACTTCA	0.657			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome																													yes	Rec		Familial paraganglioma	1	1q21	6391	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"		O	0			1											58	52	54					1																	161284214		2203	4300	6503	159550838	SO:0001630	splice_region_variant	6391	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"Mitochondrial respiratory chain complex / Complex II"	10682	protein-coding gene	gene with protein product		602413	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.20+1A>C	1.37:g.161284214A>C			159550838	O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Missense_Mutation	SNP	ENST00000367975.2	37	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.923264	0.52653	.	.	ENSG00000143252	ENST00000392169	D	0.95518	-3.73	5.23	5.23	0.72850	.	.	.	.	.	D	0.85745	0.5768	.	.	.	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.79478	-0.1787	6	.	.	.	.	11.5057	0.50466	1.0:0.0:0.0:0.0	.	7	Q99643-5	.	R	7	ENSP00000376009:S7R	.	S	+	1	0	SDHC	159550838	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.471000	0.60182	1.985000	0.57927	0.482000	0.46254	AGT		0.657	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001	Silent	C	161284214	A	C	161284214	5	2	31	1	0	0	0	0	0	0	1	0	13969	318	11	5	21	5	SDHC	1	161284214	Splice_Site	SNP	A	TCGA-04-1646-01A-01W-0639-09	114784002	161284214	87966407	2	1545											
SCN1A	6323	genome.wustl.edu	37	2	166929996	166929996	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr2:166929996C>T	ENST00000303395.4	-	1	135	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E46K|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.E46K|SCN1A_ENST00000409050.1_Missense_Mutation_p.E46K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	46					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCCATTTTCGTCGTCATCT	0.448																																																0			2											275	262	267					2																	166929996		2203	4300	6503	166638242	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.136G>A	2.37:g.166929996C>T	ENSP00000303540:p.Glu46Lys		166638242	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765400	0.69878	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96685	-4.09;-4.09;-4.05;-4.02	5.1	5.1	0.69264	.	0.179052	0.39146	N	0.001451	D	0.95354	0.8492	M	0.76433	2.335	0.50171	D	0.999852	P	0.51057	0.941	B	0.38954	0.286	D	0.95931	0.8938	10	0.62326	D	0.03	.	18.0304	0.89282	0.0:1.0:0.0:0.0	.	46	P35498-2	.	K	46	ENSP00000407030:E46K;ENSP00000303540:E46K;ENSP00000364554:E46K;ENSP00000386312:E46K	ENSP00000303540:E46K	E	-	1	0	SCN1A	166638242	0.994000	0.37717	0.997000	0.53966	0.978000	0.69477	4.681000	0.61663	2.809000	0.96659	0.655000	0.94253	GAA		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166929996	C	T	166929996	3	4	31	1	0	0	0	0	1	0	0	0	13917	893	31	1	5997	1	SCN1A	2	166929996	Missense_Mutation	SNP	C	TCGA-04-1646-01A-01W-0639-09		166929996	76269377	3	1546											
ALPI	248	genome.wustl.edu	37	2	233321706	233321706	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr2:233321706C>A	ENST00000295463.3	+	4	475	c.398C>A	c.(397-399)gCa>gAa	p.A133E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	133					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCTTGAGTGCAGCCGCCCGC	0.622																																																0			2											65	50	55					2																	233321706		2203	4300	6503	233029950	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.398C>A	2.37:g.233321706C>A	ENSP00000295463:p.Ala133Glu		233029950	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377827	0.61735	.	.	ENSG00000163295	ENST00000295463	D	0.96232	-3.95	5.35	5.35	0.76521	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97964	0.9330	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.98476	1.0603	10	0.66056	D	0.02	.	18.4335	0.90634	0.0:1.0:0.0:0.0	.	133	P09923	PPBI_HUMAN	E	133	ENSP00000295463:A133E	ENSP00000295463:A133E	A	+	2	0	ALPI	233029950	0.993000	0.37304	0.446000	0.26920	0.016000	0.09150	3.057000	0.49931	2.677000	0.91161	0.561000	0.74099	GCA		0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		A	233321706	C	A	233321706	3	1	31	1	0	0	0	0	1	0	0	0	543	710	25	3	412	3	ALPI	2	233321706	Missense_Mutation	SNP	C	TCGA-04-1646-01A-01W-0639-09	66391710	233321706	9877667	4	1547											
KIT	3815	genome.wustl.edu	37	4	55594207	55594207	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr4:55594207T>A	ENST00000288135.5	+	13	2007	c.1910T>A	c.(1909-1911)cTc>cAc	p.L637H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGGAAGCCCTCATGTCTGAA	0.453		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0			4											139	127	131					4																	55594207		2203	4300	6503	55288964	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1910T>A	4.37:g.55594207T>A	ENSP00000288135:p.Leu637His		55288964	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355326	0.82243	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.85339	-1.97;-1.97	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000173	D	0.94062	0.8097	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95100	0.8229	10	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	144;633;637	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	H	637;633	ENSP00000288135:L637H;ENSP00000390987:L633H	ENSP00000288135:L637H	L	+	2	0	KIT	55288964	1.000000	0.71417	0.983000	0.44433	0.651000	0.38670	7.963000	0.87922	2.324000	0.78689	0.533000	0.62120	CTC		0.453	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55594207	T	A	55594207	3	1	31	1	0	0	0	0	1	0	0	0	8329	1551	54	5	1960	5	KIT	4	55594207	Missense_Mutation	SNP	T	TCGA-04-1646-01A-01W-0639-09		55594207	135560069	5	1548											
ENAM	10117	genome.wustl.edu	37	4	71510465	71510465	+	Missense_Mutation	SNP	A	A	G	rs529369991		TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr4:71510465A>G	ENST00000396073.3	+	9	3603	c.3322A>G	c.(3322-3324)Ata>Gta	p.I1108V	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1108					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTTAAGAGTATAAATGTAGA	0.413													A|||	1	0.000199681	0	0	5008	,	,		22937	0		0	False		,,,				2504	0.001															0			4											95	91	92					4																	71510465		2203	4300	6503	71729329	SO:0001583	missense	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3322A>G	4.37:g.71510465A>G	ENSP00000379383:p.Ile1108Val		71729329	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.384769	0.01194	.	.	ENSG00000132464	ENST00000396073	T	0.30448	1.53	5.28	2.42	0.29668	.	0.636891	0.15661	N	0.250930	T	0.19565	0.0470	L	0.38649	1.16	0.09310	N	1	B	0.10296	0.003	B	0.17722	0.019	T	0.29671	-1.0004	10	0.12766	T	0.61	-1.2012	6.0248	0.19648	0.7488:0.0:0.2512:0.0	.	1108	Q9NRM1	ENAM_HUMAN	V	1108	ENSP00000379383:I1108V	ENSP00000379383:I1108V	I	+	1	0	ENAM	71729329	0.079000	0.21365	0.012000	0.15200	0.004000	0.04260	1.287000	0.33284	0.593000	0.29745	-0.256000	0.11100	ATA		0.413	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		G	71510465	A	G	71510465	3	3	31	1	0	0	0	0	1	0	0	0	5112	449	16	4	3352	4	ENAM	4	71510465	Missense_Mutation	SNP	A	TCGA-04-1646-01A-01W-0639-09	15916258	71510465	119643811	6	1549											
SHROOM3	57619	genome.wustl.edu	37	4	77676262	77676262	+	Silent	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr4:77676262C>T	ENST00000296043.6	+	7	5579	c.4626C>T	c.(4624-4626)agC>agT	p.S1542S	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1542					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGGTGTATAGCATGGATGACT	0.627																																																0			4											67	62	63					4																	77676262		2203	4300	6503	77895286	SO:0001819	synonymous_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4626C>T	4.37:g.77676262C>T			77895286	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	CCDS3579.2																																																																																				0.627	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77676262	C	T	77676262	2	4	31	1	0	0	0	0	0	0	0	1	14298	709	25	2		2	SHROOM3	4	77676262	Silent	SNP	C	TCGA-04-1646-01A-01W-0639-09	6165797	77676262	113478014	7	1550											
MIER3	166968	genome.wustl.edu	37	5	56219626	56219626	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr5:56219626C>A	ENST00000381199.3	-	12	1097	c.1087G>T	c.(1087-1089)Gct>Tct	p.A363S	SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381213.3_Missense_Mutation_p.A362S|MIER3_ENST00000409421.1_Missense_Mutation_p.A300S|MIER3_ENST00000381226.3_Missense_Mutation_p.A368S			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CCACCCAAAGCTTCTGTTTCA	0.403																																																0			5											151	148	149					5																	56219626		2203	4300	6503	56255383	SO:0001583	missense	166968			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1087G>T	5.37:g.56219626C>A	ENSP00000370596:p.Ala363Ser		56255383	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	C	13.91	2.378460	0.42207	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.98	5.09	0.68999	.	0.318979	0.38272	N	0.001754	T	0.38639	0.1048	N	0.24115	0.695	0.30399	N	0.780167	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.0;0.003;0.005	T	0.26224	-1.0109	10	0.15952	T	0.53	-8.8132	15.2037	0.73159	0.2627:0.7373:0.0:0.0	.	363;368;362	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	S	368;362;363;300	ENSP00000370624:A368S;ENSP00000370611:A362S;ENSP00000370596:A363S;ENSP00000386584:A300S	ENSP00000370596:A363S	A	-	1	0	MIER3	56255383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.215000	0.42862	1.475000	0.48197	0.563000	0.77884	GCT		0.403	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		A	56219626	C	A	56219626	3	1	31	1	0	0	0	0	1	0	0	0	9582	797	28	3	573	3	MIER3	5	56219626	Missense_Mutation	SNP	C	TCGA-04-1646-01A-01W-0639-09		56219626	124695634	8	1551											
PCDHGA1	56114	genome.wustl.edu	37	5	140712449	140712449	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr5:140712449C>T	ENST00000517417.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A733V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCTTAGCGAGCATGCCC	0.647																																																0			5											68	72	71					5																	140712449		2203	4300	6503	140692633	SO:0001583	missense	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2198C>T	5.37:g.140712449C>T	ENSP00000431083:p.Ala733Val		140692633	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019518	0.08006	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.48522	0.82;0.81	3.74	-0.658	0.11428	.	1.393690	0.05083	N	0.483953	T	0.32466	0.0830	L	0.38838	1.175	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.12837	0.008;0.006	T	0.20174	-1.0283	10	0.35671	T	0.21	.	0.1253	0.00068	0.2565:0.2693:0.1958:0.2784	.	733;733	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	733	ENSP00000431083:A733V;ENSP00000367345:A733V	ENSP00000367345:A733V	A	+	2	0	PCDHGA1	140692633	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.049000	0.03514	0.052000	0.16007	0.573000	0.79308	GCG		0.647	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		T	140712449	C	T	140712449	3	4	31	1	0	0	0	0	1	0	0	0	11550	768	27	1	2200	1	PCDHGA1	5	140712449	Missense_Mutation	SNP	C	TCGA-04-1646-01A-01W-0639-09	84492823	140712449	40202811	9	1552											
MAS1L	116511	genome.wustl.edu	37	6	29454576	29454576	+	Silent	SNP	A	A	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr6:29454576A>T	ENST00000377127.3	-	1	1162	c.1104T>A	c.(1102-1104)ctT>ctA	p.L368L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	368					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GCTCCCTGGGAAGAAGGTTCT	0.517																																					NSCLC(153;755 1987 3859 11251 32945)											0			6											151	146	148					6																	29454576		2203	4300	6503	29562555	SO:0001819	synonymous_variant	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1104T>A	6.37:g.29454576A>T			29562555	Q5SUN5	Silent	SNP	ENST00000377127.3	37	CCDS4661.1																																																																																				0.517	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		T	29454576	A	T	29454576	2	4	31	1	0	0	0	0	0	0	0	1	9321	233	9	5		5	MAS1L	6	29454576	Silent	SNP	A	TCGA-04-1646-01A-01W-0639-09		29454576	141660491	10	1553											
RBM16	22828	genome.wustl.edu	37	6	155139695	155139695	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr6:155139695G>T	ENST00000367178.3	+	14	2180	c.1604G>T	c.(1603-1605)gGa>gTa	p.G535V	SCAF8_ENST00000417268.1_Missense_Mutation_p.G535V|SCAF8_ENST00000367186.4_Missense_Mutation_p.G601V	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	535	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCAGTTCTGGATCATATAAA	0.408																																																0			6											82	82	82					6																	155139695		2203	4300	6503	155181387	SO:0001583	missense	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1604G>T	6.37:g.155139695G>T	ENSP00000356146:p.Gly535Val		155181387	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504107	0.85176	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.52057	0.7;0.7;0.68	4.56	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.073447	0.53938	U	0.000043	T	0.44746	0.1308	N	0.21373	0.66	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.986;0.995;0.993;0.995	T	0.28744	-1.0034	10	0.24483	T	0.36	.	17.8578	0.88771	0.0:0.0:1.0:0.0	.	580;601;613;535	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	V	535;535;601	ENSP00000356146:G535V;ENSP00000413098:G535V;ENSP00000356154:G601V	ENSP00000356146:G535V	G	+	2	0	SCAF8	155181387	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	7.648000	0.83479	2.512000	0.84698	0.491000	0.48974	GGA		0.408	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		T	155139695	G	T	155139695	3	4	31	1	0	0	0	0	1	0	0	0	13121	1174	41	3	1658	3	RBM16	6	155139695	Missense_Mutation	SNP	G	TCGA-04-1646-01A-01W-0639-09	125685119	155139695	15975372	11	1554											
C6orf70	55780	genome.wustl.edu	37	6	170181486	170181486	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr6:170181486G>C	ENST00000366773.3	+	18	1947	c.1914G>C	c.(1912-1914)aaG>aaC	p.K638N	ERMARD_ENST00000588451.1_Missense_Mutation_p.K502N|ERMARD_ENST00000366772.2_Missense_Mutation_p.K591N|ERMARD_ENST00000392095.4_Missense_Mutation_p.K512N|ERMARD_ENST00000418781.3_Missense_Mutation_p.K565N	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	638					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GTTACGAAAAGAACAAGTGGA	0.323																																																0			6											96	87	90					6																	170181486		2203	4300	6503	169923411	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1914G>C	6.37:g.170181486G>C	ENSP00000355735:p.Lys638Asn		169923411	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417986	0.42918	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.56444	0.46;0.47	5.3	2.4	0.29515	.	0.534882	0.16610	N	0.206959	T	0.38665	0.1049	L	0.29908	0.895	0.21290	N	0.99974	D;D;P	0.63046	0.992;0.961;0.935	P;P;P	0.59357	0.856;0.732;0.544	T	0.11060	-1.0603	10	0.87932	D	0	.	8.4837	0.33059	0.3027:0.0:0.6973:0.0	.	591;565;638	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	N	638;591;565;512;286	ENSP00000355735:K638N;ENSP00000375945:K512N	ENSP00000355733:K286N	K	+	3	2	C6orf70	169923411	0.997000	0.39634	0.880000	0.34516	0.803000	0.45373	0.665000	0.25083	1.156000	0.42514	0.561000	0.74099	AAG		0.323	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		C	170181486	G	C	170181486	3	2	31	1	0	0	0	0	1	0	0	0	2370	933	33	3	1984	3	C6orf70	6	170181486	Missense_Mutation	SNP	G	TCGA-04-1646-01A-01W-0639-09	15041791	170181486	933581	12	1555											
SAMD9	54809	genome.wustl.edu	37	7	92734557	92734557	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr7:92734557C>T	ENST00000379958.2	-	3	1123	c.854G>A	c.(853-855)cGa>cAa	p.R285Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	285						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTGGCTCTCGAATGCACTT	0.373																																																0			7											134	132	133					7																	92734557		2203	4300	6503	92572493	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.854G>A	7.37:g.92734557C>T	ENSP00000369292:p.Arg285Gln		92572493	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750198	0.69533	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15487	2.42;2.42	4.34	3.46	0.39613	.	0.246529	0.22679	U	0.056975	T	0.15478	0.0373	M	0.70595	2.14	0.21652	N	0.999601	P	0.47910	0.902	B	0.32677	0.15	T	0.28202	-1.0051	10	0.72032	D	0.01	-2.6704	8.7691	0.34722	0.0:0.8115:0.0:0.1885	.	285	Q5K651	SAMD9_HUMAN	Q	285	ENSP00000369292:R285Q;ENSP00000414529:R285Q	ENSP00000369292:R285Q	R	-	2	0	SAMD9	92572493	0.059000	0.20769	0.995000	0.50966	0.993000	0.82548	0.702000	0.25631	1.176000	0.42840	0.603000	0.83216	CGA		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		T	92734557	C	T	92734557	3	4	31	1	0	0	0	0	1	0	0	0	13829	884	31	1	3919	1	SAMD9	7	92734557	Missense_Mutation	SNP	C	TCGA-04-1646-01A-01W-0639-09		92734557	66404106	13	1556											
TSC1	7248	genome.wustl.edu	37	9	135781378	135781378	+	Silent	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr9:135781378G>A	ENST00000298552.3	-	15	1808	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A	TSC1_ENST00000440111.2_Silent_p.A529A|TSC1_ENST00000545250.1_Silent_p.A478A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	529					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGTTCACGCTGGCGCCCTGAG	0.592			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)	9											67	66	66					9																	135781378		2203	4300	6503	134771199	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1587C>T	9.37:g.135781378G>A			134771199	B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	CCDS6956.1																																																																																				0.592	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			A	135781378	G	A	135781378	2	1	31	1	0	0	0	0	0	0	0	1	16605	1335	47	2		2	TSC1	9	135781378	Silent	SNP	G	TCGA-04-1646-01A-01W-0639-09		135781378	5432053	14	1557											
HSPA8	3312	genome.wustl.edu	37	11	122930293	122930303	+	Frame_Shift_Del	DEL	CAGGACAATAT	CAGGACAATAT	-	rs115882568|rs146503730	byFrequency	TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	CAGGACAATAT	CAGGACAATAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr11:122930293_122930303delCAGGACAATAT	ENST00000532636.1	-	5	1117_1127	c.998_1008delATATTGTCCTG	c.(997-1008)gatattgtcctgfs	p.DIVL333fs	HSPA8_ENST00000534624.1_Frame_Shift_Del_p.DIVL333fs|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Frame_Shift_Del_p.DIVL333fs|HSPA8_ENST00000533540.1_Frame_Shift_Del_p.DIVL187fs|SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Frame_Shift_Del_p.DIVL314fs|HSPA8_ENST00000534319.1_Frame_Shift_Del_p.DIVL97fs|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Frame_Shift_Del_p.DIVL333fs			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	333	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AACCACCAACCAGGACAATATCATGAATCTG	0.464																																					Colon(21;486 594 5900 6733 14272)											0			11																																								122435513	SO:0001589	frameshift_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.998_1008delATATTGTCCTG	11.37:g.122930293_122930303delCAGGACAATAT	ENSP00000437125:p.Asp333fs		122435503	Q9H3R6	Frame_Shift_Del	DEL	ENST00000532636.1	37	CCDS8440.1																																																																																				0.464	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			-	122930303	CAGGACAATAT	-	122930293	7	5	31	1	0	1	0	1	0	0	0	0	7416	581	21	0	952	0	HSPA8	11	122930293	Frame_Shift_Del	DEL	CAGGACAATAT	TCGA-04-1646-01A-01W-0639-09		122930293	12076223	15	1558											
MLL2	8085	genome.wustl.edu	37	12	49427469	49427469	+	Silent	SNP	A	A	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr12:49427469A>T	ENST00000301067.7	-	39	11018	c.11019T>A	c.(11017-11019)ctT>ctA	p.L3673L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3673	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAGCTGTATTAAGGAAGGGGC	0.642																																																0			12											49	55	53					12																	49427469		2012	4176	6188	47713736	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11019T>A	12.37:g.49427469A>T			47713736	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49427469	A	T	49427469	2	4	31	1	0	0	0	0	0	0	0	1	9621	349	13	5		5	MLL2	12	49427469	Silent	SNP	A	TCGA-04-1646-01A-01W-0639-09		49427469	84424426	16	1559											
KRT5	3852	genome.wustl.edu	37	12	52913609	52913609	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr12:52913609C>T	ENST00000252242.4	-	1	862	c.472G>A	c.(472-474)Gac>Aac	p.D158N		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	158	Head.		D -> V (in WC-EBS; dbSNP:rs61222761). {ECO:0000269|PubMed:16882168}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGCTGGGGTCGATTTGCAGG	0.557																																																0			12											176	165	169					12																	52913609		2203	4300	6503	51199876	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.472G>A	12.37:g.52913609C>T	ENSP00000252242:p.Asp158Asn		51199876	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983992	0.93044	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420;ENST00000551275	D;T;T	0.95756	-3.8;-1.17;-1.17	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000009	D	0.97907	0.9312	M	0.84156	2.68	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	D	0.98374	1.0555	10	0.87932	D	0	.	19.7439	0.96243	0.0:1.0:0.0:0.0	.	158	P13647	K2C5_HUMAN	N	158;123;48;123	ENSP00000252242:D158N;ENSP00000447209:D48N;ENSP00000448041:D123N	ENSP00000252242:D158N	D	-	1	0	KRT5	51199876	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.818000	0.86416	2.669000	0.90835	0.655000	0.94253	GAC		0.557	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			T	52913609	C	T	52913609	3	4	31	1	0	0	0	0	1	0	0	0	8479	884	31	1	1336	1	KRT5	12	52913609	Missense_Mutation	SNP	C	TCGA-04-1646-01A-01W-0639-09	3486140	52913609	80938286	17	1560											
VPS13C	54832	genome.wustl.edu	37	15	62259576	62259576	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr15:62259576C>A	ENST00000261517.5	-	29	3055	c.2982G>T	c.(2980-2982)gaG>gaT	p.E994D	VPS13C_ENST00000395896.4_Missense_Mutation_p.E994D|VPS13C_ENST00000249837.3_Missense_Mutation_p.E951D|VPS13C_ENST00000395898.3_Missense_Mutation_p.E951D	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCTTAATATACTCCACTTTCA	0.333																																																0			15											57	65	63					15																	62259576		2202	4290	6492	60046868	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2982G>T	15.37:g.62259576C>A	ENSP00000261517:p.Glu994Asp		60046868		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116409	0.37339	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.19938	2.11;2.11;2.11	5.2	-4.7	0.03288	.	0.000000	0.64402	D	0.000001	T	0.18923	0.0454	L	0.58969	1.84	0.40924	D	0.984339	B;B;B;B	0.12630	0.005;0.006;0.006;0.006	B;B;B;B	0.19946	0.017;0.023;0.023;0.027	T	0.06463	-1.0825	10	0.35671	T	0.21	.	14.6349	0.68682	0.0:0.5516:0.0:0.4484	.	951;994;951;994	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	D	951;994;994;994	ENSP00000249837:E951D;ENSP00000261517:E994D;ENSP00000379233:E994D	ENSP00000249837:E951D	E	-	3	2	VPS13C	60046868	0.562000	0.26586	0.952000	0.39060	0.760000	0.43138	-0.354000	0.07681	-0.812000	0.04363	-0.672000	0.03802	GAG		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62259576	C	A	62259576	3	1	31	1	0	0	0	0	1	0	0	0	17191	564	20	3	8535	3	VPS13C	15	62259576	Missense_Mutation	SNP	C	TCGA-04-1646-01A-01W-0639-09		62259576	40271816	18	1561											
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	31	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-04-1646-01A-01W-0639-09		7578190	73617020	19	1562											
CACNB1	782	genome.wustl.edu	37	17	37340055	37340055	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr17:37340055G>C	ENST00000394303.3	-	11	1168	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	CACNB1_ENST00000582877.1_5'Flank|CACNB1_ENST00000344140.5_Missense_Mutation_p.L366V|CACNB1_ENST00000394310.3_Missense_Mutation_p.L321V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	321					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCATCCAGAGCGACCAAC	0.577																																					Esophageal Squamous(5;100 366 38393 41452 45827)											0			17											90	74	79					17																	37340055		2203	4300	6503	34593581	SO:0001583	missense	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.961C>G	17.37:g.37340055G>C	ENSP00000377840:p.Leu321Val		34593581	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304414	0.60305	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	T;T;T	0.72167	-0.63;-0.63;-0.63	5.35	1.03	0.20045	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.64402	D	0.000001	T	0.81226	0.4778	M	0.86651	2.83	0.58432	D	0.999992	D;P;D	0.76494	0.999;0.798;0.996	D;B;D	0.85130	0.997;0.305;0.985	T	0.77300	-0.2639	10	0.87932	D	0	-11.5742	3.6858	0.08327	0.3857:0.0:0.4532:0.1611	.	366;321;321	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	V	271;321;366;321;272	ENSP00000377840:L321V;ENSP00000345461:L366V;ENSP00000377847:L321V	ENSP00000345461:L366V	L	-	1	2	CACNB1	34593581	0.827000	0.29292	0.473000	0.27253	0.983000	0.72400	1.173000	0.31920	0.228000	0.21019	-0.424000	0.05967	CTG		0.577	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			C	37340055	G	C	37340055	3	2	31	1	0	0	0	0	1	0	0	0	2552	933	33	3	956	3	CACNB1	17	37340055	Missense_Mutation	SNP	G	TCGA-04-1646-01A-01W-0639-09	29761865	37340055	43855155	20	1563											
KRT14	3861	genome.wustl.edu	37	17	39738778	39738778	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr17:39738778G>A	ENST00000167586.6	-	8	1414	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	443	Interaction with Type I keratins and keratin filaments.|Tail.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCGGCTGGAGGAGGTCACTGG	0.562																																																0			17											51	39	43					17																	39738778		2200	4290	6490	36992304	SO:0001583	missense	3861			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1328C>T	17.37:g.39738778G>A	ENSP00000167586:p.Ser443Phe		36992304	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198390	0.58126	.	.	ENSG00000186847	ENST00000167586	D	0.83837	-1.77	5.24	5.24	0.73138	.	0.000000	0.49916	D	0.000125	T	0.78304	0.4262	L	0.46157	1.445	0.41340	D	0.987292	P	0.46395	0.877	B	0.38264	0.269	T	0.82382	-0.0485	10	0.66056	D	0.02	.	16.1132	0.81278	0.0:0.0:1.0:0.0	.	443	P02533	K1C14_HUMAN	F	443	ENSP00000167586:S443F	ENSP00000167586:S443F	S	-	2	0	KRT14	36992304	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.821000	0.55700	2.620000	0.88729	0.561000	0.74099	TCC		0.562	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		A	39738778	G	A	39738778	3	1	31	1	0	0	0	0	1	0	0	0	8451	1174	41	2	94	2	KRT14	17	39738778	Missense_Mutation	SNP	G	TCGA-04-1646-01A-01W-0639-09	2398723	39738778	41456432	21	1564											
MUC16	94025	genome.wustl.edu	37	19	9089322	9089322	+	Silent	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr19:9089322C>T	ENST00000397910.4	-	1	2696	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	831	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCTCTGACGATTCTGAAG	0.498																																																0			19											198	188	191					19																	9089322		2009	4174	6183	8950322	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2493G>A	19.37:g.9089322C>T			8950322	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9089322	C	T	9089322	2	4	31	1	0	0	0	0	0	0	0	1	9973	523	19	1		1	MUC16	19	9089322	Silent	SNP	C	TCGA-04-1646-01A-01W-0639-09		9089322	50039661	22	1565											
KLF1	10661	genome.wustl.edu	37	19	12995856	12995856	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr19:12995856C>T	ENST00000264834.4	-	3	972	c.932G>A	c.(931-933)tGc>tAc	p.C311Y	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	311					cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCCACGTGCAGGCGTATGG	0.657																																																0			19											29	32	31					19																	12995856		2203	4297	6500	12856856	SO:0001583	missense	10661			U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6345	protein-coding gene	gene with protein product	"erythroid Kruppel-like factor"	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.932G>A	19.37:g.12995856C>T	ENSP00000264834:p.Cys311Tyr		12856856	Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382599	0.95967	.	.	ENSG00000105610	ENST00000264834	D	0.85088	-1.94	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000587	D	0.95274	0.8467	H	0.97918	4.105	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96835	0.9614	10	0.87932	D	0	.	15.3823	0.74669	0.0:1.0:0.0:0.0	.	311	Q13351	KLF1_HUMAN	Y	311	ENSP00000264834:C311Y	ENSP00000264834:C311Y	C	-	2	0	KLF1	12856856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.590000	0.82653	2.500000	0.84329	0.561000	0.74099	TGC		0.657	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		T	12995856	C	T	12995856	3	4	31	1	0	0	0	0	1	0	0	0	8337	710	25	2	160	2	KLF1	19	12995856	Missense_Mutation	SNP	C	TCGA-04-1646-01A-01W-0639-09	3906534	12995856	46133127	23	1566											
WDR62	284403	genome.wustl.edu	37	19	36593926	36593926	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr19:36593926G>A	ENST00000270301.7	+	28	3397	c.3397G>A	c.(3397-3399)Gga>Aga	p.G1133R	WDR62_ENST00000401500.2_Missense_Mutation_p.G1138R			O43379	WDR62_HUMAN	WD repeat domain 62	1133					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACCGAGGCGGAAGCCAGCC	0.652																																																0			19											47	48	47					19																	36593926		2203	4300	6503	41285766	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3397G>A	19.37:g.36593926G>A	ENSP00000270301:p.Gly1133Arg		41285766	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352940	0.24512	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.52754	0.74;0.65	5.08	1.74	0.24563	.	0.660443	0.14298	N	0.328472	T	0.40247	0.1109	M	0.65975	2.015	0.09310	N	0.999994	B;B	0.31459	0.324;0.217	B;B	0.28465	0.09;0.041	T	0.29610	-1.0006	10	0.42905	T	0.14	-12.5167	5.2271	0.15401	0.1736:0.0:0.6653:0.1611	.	1138;1133	O43379-4;O43379	.;WDR62_HUMAN	R	1138;1133	ENSP00000384792:G1138R;ENSP00000270301:G1133R	ENSP00000270301:G1133R	G	+	1	0	WDR62	41285766	0.004000	0.15560	0.002000	0.10522	0.003000	0.03518	0.734000	0.26101	0.263000	0.21812	-0.897000	0.02905	GGA		0.652	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		A	36593926	G	A	36593926	3	1	31	1	0	0	0	0	1	0	0	0	17313	1117	39	1	3522	1	WDR62	19	36593926	Missense_Mutation	SNP	G	TCGA-04-1646-01A-01W-0639-09	23598070	36593926	22535057	24	1567											
CLPTM1	1209	genome.wustl.edu	37	19	45493678	45493678	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr19:45493678G>C	ENST00000337392.5	+	10	1308	c.1158G>C	c.(1156-1158)caG>caC	p.Q386H	CLPTM1_ENST00000541297.2_Missense_Mutation_p.Q372H|CLPTM1_ENST00000546079.1_Missense_Mutation_p.Q284H	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	386					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACAGCCGGCAGTCCCTGGAGG	0.622																																																0			19											128	128	128					19																	45493678		2203	4300	6503	50185518	SO:0001583	missense	1209			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1158G>C	19.37:g.45493678G>C	ENSP00000336994:p.Gln386His		50185518	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191132	0.78902	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.8	4.8	0.61643	.	0.215920	0.41001	D	0.000980	T	0.64382	0.2593	L	0.55481	1.735	0.80722	D	1	B;P	0.35155	0.432;0.487	B;B	0.41894	0.253;0.369	T	0.69161	-0.5218	9	0.87932	D	0	-1.4936	15.4469	0.75238	0.0:0.0:1.0:0.0	.	372;386	F5H8J3;O96005	.;CLPT1_HUMAN	H	284;372;386;386	.	ENSP00000336994:Q386H	Q	+	3	2	CLPTM1	50185518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.945000	0.70226	2.513000	0.84729	0.485000	0.47835	CAG		0.622	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		C	45493678	G	C	45493678	3	2	31	1	0	0	0	0	1	0	0	0	3554	1020	36	3	1196	3	CLPTM1	19	45493678	Missense_Mutation	SNP	G	TCGA-04-1646-01A-01W-0639-09	8899752	45493678	13635305	25	1568											
TM9SF4	9777	genome.wustl.edu	37	20	30720912	30720912	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr20:30720912G>A	ENST00000398022.2	+	2	347	c.112G>A	c.(112-114)Gat>Aat	p.D38N	TM9SF4_ENST00000217315.5_Missense_Mutation_p.D21N	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	38						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCACCAGAACGATCCCGTAGA	0.522																																																0			20											131	108	116					20																	30720912		2203	4300	6503	30184573	SO:0001583	missense	9777			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.112G>A	20.37:g.30720912G>A	ENSP00000381104:p.Asp38Asn		30184573	B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326924	0.60743	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.50813	1.28;0.73	5.2	4.26	0.50523	.	0.244211	0.41001	D	0.000966	T	0.49064	0.1535	M	0.79805	2.47	0.44030	D	0.996758	P	0.36974	0.576	B	0.35073	0.195	T	0.56019	-0.8048	10	0.59425	D	0.04	-17.3597	10.9995	0.47596	0.1488:0.0:0.8512:0.0	.	38	Q92544	TM9S4_HUMAN	N	38;21	ENSP00000381104:D38N;ENSP00000217315:D21N	ENSP00000217315:D21N	D	+	1	0	TM9SF4	30184573	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.192000	0.58378	1.436000	0.47453	-0.136000	0.14681	GAT		0.522	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		A	30720912	G	A	30720912	3	1	31	1	0	0	0	0	1	0	0	0	15980	1058	37	1	118	1	TM9SF4	20	30720912	Missense_Mutation	SNP	G	TCGA-04-1646-01A-01W-0639-09		30720912	32304608	26	1569											
NCOA6	23054	genome.wustl.edu	37	20	33337695	33337695	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr20:33337695G>A	ENST00000374796.2	-	10	4873	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P768L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	768	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCCTTGCTGGGGCAGCATCTG	0.567																																																0			20											83	70	74					20																	33337695		2203	4300	6503	32801356	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2303C>T	20.37:g.33337695G>A	ENSP00000363929:p.Pro768Leu		32801356	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817328	0.50633	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.26067	1.76;1.76	6.17	5.22	0.72569	.	0.193640	0.36482	N	0.002569	T	0.18509	0.0444	N	0.14661	0.345	0.58432	D	0.999998	B	0.24823	0.112	B	0.22386	0.039	T	0.03278	-1.1053	10	0.62326	D	0.03	-6.5749	16.2022	0.82088	0.0:0.1317:0.8683:0.0	.	768	Q14686	NCOA6_HUMAN	L	768	ENSP00000363929:P768L;ENSP00000351894:P768L	ENSP00000351894:P768L	P	-	2	0	NCOA6	32801356	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.615000	0.61190	1.601000	0.50113	0.655000	0.94253	CCC		0.567	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		A	33337695	G	A	33337695	3	1	31	1	0	0	0	0	1	0	0	0	10233	1232	43	2	3916	2	NCOA6	20	33337695	Missense_Mutation	SNP	G	TCGA-04-1646-01A-01W-0639-09	2616783	33337695	29687825	27	1570											
ASMTL	8623	genome.wustl.edu	37	X	1546842	1546842	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chrX:1546842A>G	ENST00000381317.3	-	7	714	c.682T>C	c.(682-684)Tcc>Ccc	p.S228P	ASMTL_ENST00000534940.1_Missense_Mutation_p.S170P|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Missense_Mutation_p.S152P|ASMTL_ENST00000381333.4_Missense_Mutation_p.S212P	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	228				S -> P (in Ref. 2; BAG63287). {ECO:0000305}.		cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGGGATGGAGTCGTGCTTG	0.667													a|||	457	0.091254	0.0643	0.0908	5008	,	,		15206	0.0972		0.164	False		,,,				2504	0.047															0			X						A	PRO/SER,PRO/SER,PRO/SER	266,3720		13,240,1740	46	55	52		508,634,682	-0.7	0	X	dbSNP_134	52	1340,6900		123,1094,2903	no	missense,missense,missense	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	74,74,74	136,1334,4643	GG,GA,AA		16.2621,6.6734,13.1359	benign,benign,benign	170/564,212/606,228/622	1546842	1606,10620	1993	4120	6113	1506842	SO:0001583	missense	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.682T>C	X.37:g.1546842A>G	ENSP00000370718:p.Ser228Pro		1506842	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	CCDS43917.1	249	0.11401098901098901	44	0.08943089430894309	33	0.09116022099447514	64	0.11188811188811189	108	0.1424802110817942	a	9.813	1.183635	0.21870	0.066734	0.162621	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	1.99	-0.697	0.11284	.	0.789628	0.11208	U	0.587967	T	0.00384	0.0012	L	0.55481	1.735	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.73708	0.923;0.981;0.915	T	0.00931	-1.1510	10	0.41790	T	0.15	.	5.94	0.19187	0.7342:0.0:0.2658:0.0	.	152;212;228	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	P	152;170;212;228	ENSP00000410578:S152P;ENSP00000446410:S170P;ENSP00000370734:S212P;ENSP00000370718:S228P	ENSP00000370718:S228P	S	-	1	0	ASMTL	1506842	0.996000	0.38824	0.006000	0.13384	0.033000	0.12548	0.313000	0.19415	-0.139000	0.11414	0.230000	0.17803	TCC		0.667	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		G	1546842	A	G	1546842	3	3	31	1	0	0	0	0	1	0	0	0	1046	304	11	4	1211	4	ASMTL	23	1546842	Missense_Mutation	SNP	A	TCGA-04-1646-01A-01W-0639-09		1546842	153723718	28	1571											
FOXP3	50943	genome.wustl.edu	37	X	49113429	49113429	+	Silent	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chrX:49113429C>T	ENST00000376207.4	-	5	682	c.495G>A	c.(493-495)ccG>ccA	p.P165P	FOXP3_ENST00000557224.1_Silent_p.P130P|FOXP3_ENST00000376199.2_Silent_p.P130P|FOXP3_ENST00000455775.2_Silent_p.P165P|FOXP3_ENST00000376197.1_Silent_p.P115P|FOXP3_ENST00000518685.1_Silent_p.P130P	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	165					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					AGAGCAGTGCCGGCTCCCTGG	0.647													C|||	1	0.000264901	8e-04	0	3775	,	,		13075	0		0	False		,,,				2504	0				GBM(182;1432 2112 16160 23073 31774)											0			X											58	40	46					X																	49113429		2203	4300	6503	49000373	SO:0001819	synonymous_variant	50943				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.495G>A	X.37:g.49113429C>T			49000373	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Silent	SNP	ENST00000376207.4	37	CCDS14323.1																																																																																				0.647	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		T	49113429	C	T	49113429	2	4	31	1	0	0	0	0	0	0	0	1	6028	639	23	1		1	FOXP3	23	49113429	Silent	SNP	C	TCGA-04-1646-01A-01W-0639-09	47566587	49113429	106157131	29	1572											
PRAMEF10	343071	genome.wustl.edu	37	1	12954898	12954898	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr1:12954898T>C	ENST00000235347.4	-	3	464	c.385A>G	c.(385-387)Atg>Gtg	p.M129V		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	129					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTACTCATGGCCTCTGGG	0.527																																																0			1											50	53	52					1																	12954898		1897	3829	5726	12877485	SO:0001583	missense	343071			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.385A>G	1.37:g.12954898T>C	ENSP00000235347:p.Met129Val		12877485	Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	1.885	-0.457016	0.04540	.	.	ENSG00000187545	ENST00000235347	T	0.16196	2.36	1.37	-1.54	0.08584	.	1.612070	0.04072	N	0.308230	T	0.15046	0.0363	L	0.39085	1.19	0.09310	N	1	B	0.31274	0.317	B	0.36567	0.228	T	0.30534	-0.9975	10	0.33141	T	0.24	.	4.7691	0.13146	0.0:0.6229:0.0:0.3771	.	129	O60809	PRA10_HUMAN	V	129	ENSP00000235347:M129V	ENSP00000235347:M129V	M	-	1	0	PRAMEF10	12877485	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.010000	0.13242	-0.413000	0.07507	0.163000	0.16589	ATG		0.527	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		C	12954898	T	C	12954898	3	2	32	1	0	0	0	0	1	0	0	0	12429	1464	51	4	1047	4	PRAMEF10	1	12954898	Missense_Mutation	SNP	T	TCGA-04-1648-01A-01W-0639-09		12954898	236295723	1	1573											
AHDC1	27245	genome.wustl.edu	37	1	27875240	27875240	+	Silent	SNP	A	A	G			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr1:27875240A>G	ENST00000247087.5	-	5	3983	c.3387T>C	c.(3385-3387)aaT>aaC	p.N1129N	AHDC1_ENST00000374011.2_Silent_p.N1129N			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1129							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CAAAACTGGGATTGTAGAGCT	0.592																																																0			1											77	77	77					1																	27875240		2203	4299	6502	27747827	SO:0001819	synonymous_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3387T>C	1.37:g.27875240A>G			27747827	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	CCDS30652.1																																																																																				0.592	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			G	27875240	A	G	27875240	2	3	32	1	0	0	0	0	0	0	0	1	412	330	12	4		4	AHDC1	1	27875240	Silent	SNP	A	TCGA-04-1648-01A-01W-0639-09	14920342	27875240	221375381	2	1574											
EPS8L3	79574	genome.wustl.edu	37	1	110293399	110293399	+	Silent	SNP	A	A	C			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr1:110293399A>C	ENST00000361965.4	-	18	1759	c.1653T>G	c.(1651-1653)ctT>ctG	p.L551L	EPS8L3_ENST00000361852.4_Silent_p.L521L|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Silent_p.L552L	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	551						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TCAGGGACCCAAGTGTCCTCA	0.607																																																0			1											58	44	49					1																	110293399		2203	4300	6503	110094922	SO:0001819	synonymous_variant	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1653T>G	1.37:g.110293399A>C			110094922	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	CCDS814.1																																																																																				0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		C	110293399	A	C	110293399	2	2	32	1	0	0	0	0	0	0	0	1	5197	117	5	5		5	EPS8L3	1	110293399	Silent	SNP	A	TCGA-04-1648-01A-01W-0639-09	82418159	110293399	138957222	3	1575											
RHOC	389	genome.wustl.edu	37	1	113245197	113245197	+	Silent	SNP	G	G	C			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr1:113245197G>C	ENST00000285735.2	-	5	1605	c.396C>G	c.(394-396)gcC>gcG	p.A132A	RHOC_ENST00000369632.2_Silent_p.A132A|RHOC_ENST00000369633.2_Silent_p.A132A|RHOC_ENST00000369637.1_Silent_p.A132A|RHOC_ENST00000369636.2_Intron|RHOC_ENST00000369642.3_Silent_p.A132A|RHOC_ENST00000369638.2_Silent_p.A132A|RHOC_ENST00000339083.7_Silent_p.A132A|RP11-426L16.10_ENST00000471038.2_5'Flank			P08134	RHOC_HUMAN	ras homolog family member C	132					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTCATCTTGGCCAGCTCTC	0.602																																																0			1											125	117	119					1																	113245197		2203	4300	6503	113046720	SO:0001819	synonymous_variant	389			BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"ras homolog gene family, member C"	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.396C>G	1.37:g.113245197G>C			113046720	B3KSW1|Q6ICN3	Silent	SNP	ENST00000285735.2	37	CCDS854.1																																																																																				0.602	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		C	113245197	G	C	113245197	2	2	32	1	0	0	0	0	0	0	0	1	13339	1335	47	3		3	RHOC	1	113245197	Silent	SNP	G	TCGA-04-1648-01A-01W-0639-09	2951798	113245197	136005424	4	1576											
MCFD2	90411	genome.wustl.edu	37	2	47135071	47135071	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr2:47135071G>C	ENST00000409105.1	-	4	366	c.187C>G	c.(187-189)Cca>Gca	p.P63A	MCFD2_ENST00000409207.1_Missense_Mutation_p.P63A|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000409913.1_Missense_Mutation_p.P11A|MCFD2_ENST00000409218.1_Missense_Mutation_p.P63A|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409973.1_Missense_Mutation_p.P63A|MCFD2_ENST00000319466.4_Missense_Mutation_p.P63A|MCFD2_ENST00000409800.1_Missense_Mutation_p.P11A|MCFD2_ENST00000409147.1_Missense_Mutation_p.P11A|MCFD2_ENST00000444761.2_Missense_Mutation_p.P44A	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	63					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	TCCGCCTCTGGTTTGTTGATG	0.423																																																0			2											130	119	123					2																	47135071		2203	4300	6503	46988575	SO:0001583	missense	90411			AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"EF-hand domain containing"	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.187C>G	2.37:g.47135071G>C	ENSP00000386651:p.Pro63Ala		46988575	A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	ENST00000409105.1	37	CCDS33192.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102256	0.76983	.	.	ENSG00000180398	ENST00000444761;ENST00000409105;ENST00000409913;ENST00000319466;ENST00000409800;ENST00000409207;ENST00000409973;ENST00000409147;ENST00000409218;ENST00000412438;ENST00000434262	D;D;D;D;D;D;D;D;D;D;D	0.90197	-1.83;-1.86;-1.98;-1.86;-1.98;-1.86;-1.86;-1.98;-1.86;-1.86;-2.63	5.45	4.51	0.55191	EF-hand-like domain (1);	0.102166	0.64402	D	0.000002	D	0.92328	0.7566	L	0.51422	1.61	0.58432	D	0.999996	B;D	0.58970	0.116;0.984	B;P	0.58721	0.126;0.844	D	0.91566	0.5268	10	0.44086	T	0.13	-7.2594	16.5588	0.84534	0.0:0.0:0.8611:0.1389	.	44;63	E9PD95;Q8NI22	.;MCFD2_HUMAN	A	44;63;11;63;11;63;63;11;63;63;30	ENSP00000394647:P44A;ENSP00000386651:P63A;ENSP00000386941:P11A;ENSP00000317271:P63A;ENSP00000387202:P11A;ENSP00000386386:P63A;ENSP00000386279:P63A;ENSP00000387082:P11A;ENSP00000386261:P63A;ENSP00000402717:P63A;ENSP00000387360:P30A	ENSP00000317271:P63A	P	-	1	0	MCFD2	46988575	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.000000	0.70678	2.835000	0.97688	0.650000	0.86243	CCA		0.423	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329518.1	NM_139279		C	47135071	G	C	47135071	3	2	32	1	0	0	0	0	1	0	0	0	9381	1261	44	3	261	3	MCFD2	2	47135071	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09		47135071	196064302	5	1577											
SH3RF3	344558	genome.wustl.edu	37	2	110015215	110015215	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr2:110015215G>T	ENST00000309415.6	+	4	1115	c.1115G>T	c.(1114-1116)gGc>gTc	p.G372V		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	372							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CGTGTGGATGGCAAGAAGAAC	0.612																																																0			2											51	60	57					2																	110015215		2203	4300	6503	109381647	SO:0001583	missense	344558			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1115G>T	2.37:g.110015215G>T	ENSP00000309186:p.Gly372Val		109381647	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	G	13.22	2.172329	0.38315	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.06142	3.34;3.34	4.85	4.85	0.62838	.	0.430556	0.26688	N	0.023019	T	0.06050	0.0157	.	.	.	0.58432	D	0.999997	B	0.27068	0.167	B	0.28784	0.094	T	0.44050	-0.9353	9	0.25751	T	0.34	-6.5317	13.155	0.59511	0.0:0.0:0.8403:0.1597	.	372	Q8TEJ3	SH3R3_HUMAN	V	372	ENSP00000414997:G372V;ENSP00000309186:G372V	ENSP00000309186:G372V	G	+	2	0	SH3RF3	109381647	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	3.134000	0.50538	2.522000	0.85027	0.561000	0.74099	GGC		0.612	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		T	110015215	G	T	110015215	3	4	32	1	0	0	0	0	1	0	0	0	14263	1203	42	3	1129	3	SH3RF3	2	110015215	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09	62880144	110015215	133184158	6	1578											
C4orf35	85438	genome.wustl.edu	37	4	71200893	71200893	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr4:71200893A>G	ENST00000273936.5	+	1	211	c.137A>G	c.(136-138)gAc>gGc	p.D46G		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	46					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAGAAGGAGACCACGTCACT	0.378																																																0			4											101	105	104					4																	71200893		2203	4299	6502	71235482	SO:0001583	missense	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.137A>G	4.37:g.71200893A>G	ENSP00000273936:p.Asp46Gly		71235482	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661143	0.47572	.	.	ENSG00000145309	ENST00000273936	T	0.39997	1.05	4.79	3.63	0.41609	.	0.000000	0.42053	D	0.000776	T	0.39036	0.1063	L	0.34521	1.04	0.32722	N	0.510189	D	0.55385	0.971	P	0.52793	0.709	T	0.51834	-0.8655	10	0.62326	D	0.03	-21.3713	6.561	0.22485	0.8951:0.0:0.1049:0.0	.	46	Q96KC9	CABS1_HUMAN	G	46	ENSP00000273936:D46G	ENSP00000273936:D46G	D	+	2	0	CABS1	71235482	1.000000	0.71417	0.999000	0.59377	0.426000	0.31534	2.373000	0.44266	2.142000	0.66516	0.528000	0.53228	GAC		0.378	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		G	71200893	A	G	71200893	3	3	32	1	0	0	0	0	1	0	0	0	2265	275	10	4	139	4	C4orf35	4	71200893	Missense_Mutation	SNP	A	TCGA-04-1648-01A-01W-0639-09		71200893	119953383	7	1579											
FGA	2243	genome.wustl.edu	37	4	155508772	155508772	+	Silent	SNP	C	C	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr4:155508772C>A	ENST00000302053.3	-	4	480	c.402G>T	c.(400-402)ctG>ctT	p.L134L	FGA_ENST00000403106.3_Silent_p.L134L	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	134					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCTGCTTCTCAGATCCTCTG	0.398																																					NSCLC(143;340 1922 20892 22370 48145)											0			4											178	162	167					4																	155508772		2203	4300	6503	155728222	SO:0001819	synonymous_variant	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.402G>T	4.37:g.155508772C>A			155728222	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	CCDS3787.1																																																																																				0.398	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		A	155508772	C	A	155508772	2	1	32	1	0	0	0	0	0	0	0	1	5830	813	29	3		3	FGA	4	155508772	Silent	SNP	C	TCGA-04-1648-01A-01W-0639-09	84307879	155508772	35645504	8	1580											
RAPGEF2	9693	genome.wustl.edu	37	4	160277199	160277199	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr4:160277199G>A	ENST00000264431.4	+	23	4782	c.4363G>A	c.(4363-4365)Ggg>Agg	p.G1455R		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1455					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCAGCCACATGGGCATCCCAC	0.607																																																0			4											35	41	39					4																	160277199		2158	4259	6417	160496649	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4363G>A	4.37:g.160277199G>A	ENSP00000264431:p.Gly1455Arg		160496649	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498647	0.26861	.	.	ENSG00000109756	ENST00000264431	T	0.36340	1.26	5.37	-0.309	0.12769	.	0.797292	0.11459	N	0.561926	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B	0.23316	0.083	B	0.18263	0.021	T	0.26189	-1.0110	10	0.20046	T	0.44	.	3.9947	0.09553	0.1477:0.3313:0.4073:0.1138	.	1455	Q9Y4G8	RPGF2_HUMAN	R	1455	ENSP00000264431:G1455R	ENSP00000264431:G1455R	G	+	1	0	RAPGEF2	160496649	0.794000	0.28838	0.002000	0.10522	0.160000	0.22226	1.676000	0.37565	0.209000	0.20645	0.563000	0.77884	GGG		0.607	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		A	160277199	G	A	160277199	3	1	32	1	0	0	0	0	1	0	0	0	13047	1348	47	2	4453	2	RAPGEF2	4	160277199	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09	4768427	160277199	30877077	9	1581											
CSF1R	1436	genome.wustl.edu	37	5	149459728	149459728	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr5:149459728T>C	ENST00000286301.3	-	4	770	c.479A>G	c.(478-480)cAt>cGt	p.H160R	CSF1R_ENST00000543093.1_Missense_Mutation_p.H160R	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	160	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGTGAAGCCATGCCAGGGCGA	0.612																																																0			5											77	63	68					5																	149459728		2203	4300	6503	149439921	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.479A>G	5.37:g.149459728T>C	ENSP00000286301:p.His160Arg		149439921	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	T	0.688	-0.795711	0.02862	.	.	ENSG00000182578	ENST00000286301;ENST00000394307;ENST00000543093;ENST00000511344	T;T	0.04551	3.6;3.6	4.72	1.63	0.23807	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.649280	0.03878	N	0.276735	T	0.02230	0.0069	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.38972	-0.9636	10	0.02654	T	1	.	5.8752	0.18824	0.0:0.356:0.0:0.644	.	160;160;12;160	B4DG86;B5A955;B4E2Y8;P07333	.;.;.;CSF1R_HUMAN	R	160;12;160;12	ENSP00000286301:H160R;ENSP00000445282:H160R	ENSP00000286301:H160R	H	-	2	0	CSF1R	149439921	0.001000	0.12720	0.000000	0.03702	0.251000	0.25915	0.741000	0.26202	0.045000	0.15804	0.459000	0.35465	CAT		0.612	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		C	149459728	T	C	149459728	3	2	32	1	0	0	0	0	1	0	0	0	3932	1464	51	4	2515	4	CSF1R	5	149459728	Missense_Mutation	SNP	T	TCGA-04-1648-01A-01W-0639-09		149459728	31455532	10	1582											
DEK	7913	genome.wustl.edu	37	6	18264202	18264202	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr6:18264202G>C	ENST00000397239.3	-	2	464	c.17C>G	c.(16-18)cCt>cGt	p.P6R	DEK_ENST00000244776.7_Missense_Mutation_p.P6R	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	6					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTCCGCAGCAGGGGCCGAGGC	0.672			T	NUP214	AML																																		Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0			6																																								18372181	SO:0001583	missense	7913			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.17C>G	6.37:g.18264202G>C	ENSP00000380414:p.Pro6Arg		18372181	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818537	0.50633	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000515742	T;T;T	0.67865	0.8;-0.29;0.73	4.52	3.63	0.41609	.	0.602255	0.13847	N	0.358585	T	0.33440	0.0863	N	0.22421	0.69	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.15870	0.014;0.014	T	0.38436	-0.9661	10	0.72032	D	0.01	-14.2768	10.7672	0.46301	0.0:0.0:0.8093:0.1907	.	6;6	B4DN37;P35659	.;DEK_HUMAN	R	6;6;11	ENSP00000380414:P6R;ENSP00000244776:P6R;ENSP00000423553:P11R	ENSP00000244776:P6R	P	-	2	0	DEK	18372181	0.996000	0.38824	0.029000	0.17559	0.598000	0.36846	4.326000	0.59241	0.837000	0.34925	0.491000	0.48974	CCT		0.672	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			C	18264202	G	C	18264202	3	2	32	1	0	0	0	0	1	0	0	0	4424	1000	35	3	1150	3	DEK	6	18264202	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09		18264202	152850865	11	1583											
VOPP1	81552	genome.wustl.edu	37	7	55560041	55560041	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr7:55560041G>A	ENST00000285279.5	-	4	462	c.262C>T	c.(262-264)Ccg>Tcg	p.P88S	VOPP1_ENST00000428648.1_Missense_Mutation_p.P21S|VOPP1_ENST00000433959.1_Missense_Mutation_p.P79S|VOPP1_ENST00000453256.1_Missense_Mutation_p.P21S|VOPP1_ENST00000545390.1_Missense_Mutation_p.P85S|VOPP1_ENST00000428097.1_Missense_Mutation_p.P21S|VOPP1_ENST00000471168.1_5'Flank|VOPP1_ENST00000418904.1_Missense_Mutation_p.P71S|VOPP1_ENST00000454227.1_Missense_Mutation_p.P25S|VOPP1_ENST00000427700.1_Missense_Mutation_p.P86S	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	88	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)			endometrium(1)|lung(4)	5						ATCAGCGGCGGGGGGTACATG	0.627																																																0			7											16	21	19					7																	55560041		1901	4090	5991	55527535	SO:0001583	missense	81552				CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"Glioblastoma-amplified secreted protein", "EGFR-coamplified and overexpressed protein"	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.262C>T	7.37:g.55560041G>A	ENSP00000285279:p.Pro88Ser		55527535	B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP	ENST00000285279.5	37	CCDS47588.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146231	0.37923	.	.	ENSG00000154978	ENST00000285279;ENST00000428648;ENST00000433959;ENST00000545390;ENST00000428097;ENST00000418904;ENST00000454227;ENST00000453256;ENST00000427700;ENST00000455023;ENST00000414113;ENST00000417399;ENST00000452832	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	T	0.49898	0.1584	N	0.04508	-0.205	0.42605	D	0.993297	B;D;P;P	0.89917	0.394;1.0;0.537;0.537	B;D;B;B	0.87578	0.057;0.998;0.203;0.203	T	0.57225	-0.7848	8	0.32370	T	0.25	-5.3229	14.6278	0.68635	0.0:0.0:1.0:0.0	.	71;85;88;79	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	S	88;21;79;85;21;71;25;21;86;21;21;21;21	.	ENSP00000285279:P88S	P	-	1	0	VOPP1	55527535	1.000000	0.71417	0.688000	0.30117	0.833000	0.47200	6.174000	0.71943	2.008000	0.58898	0.563000	0.77884	CCG		0.627	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343074.1	NM_030796		A	55560041	G	A	55560041	3	1	32	1	0	0	0	0	1	0	0	0	17184	1232	43	2	264	2	VOPP1	7	55560041	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09		55560041	103578622	12	1584											
SERPINE1	5054	genome.wustl.edu	37	7	100775177	100775177	+	Missense_Mutation	SNP	G	G	C	rs538785036		TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr7:100775177G>C	ENST00000223095.4	+	4	684	c.527G>C	c.(526-528)gGg>gCg	p.G176A	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G161A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	176					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AACTTGCTTGGGAAAGGAGCC	0.507																																																0			7											131	131	131					7																	100775177		2203	4300	6503	100561897	SO:0001583	missense	5054			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.527G>C	7.37:g.100775177G>C	ENSP00000223095:p.Gly176Ala		100561897	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.995788	0.00435	.	.	ENSG00000106366	ENST00000223095;ENST00000445463	D;D	0.83837	-1.77;-1.77	5.19	1.22	0.21188	Serpin domain (3);	0.849578	0.10676	N	0.646909	T	0.56963	0.2021	N	0.02111	-0.68	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.45848	-0.9233	10	0.17369	T	0.5	.	6.8811	0.24173	0.1603:0.28:0.5597:0.0	.	161;176	F8WD53;P05121	.;PAI1_HUMAN	A	176;161	ENSP00000223095:G176A;ENSP00000396766:G161A	ENSP00000223095:G176A	G	+	2	0	SERPINE1	100561897	0.023000	0.18921	0.008000	0.14137	0.003000	0.03518	0.529000	0.23019	0.326000	0.23384	-0.300000	0.09419	GGG		0.507	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		C	100775177	G	C	100775177	3	2	32	1	0	0	0	0	1	0	0	0	14114	1232	43	3	537	3	SERPINE1	7	100775177	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09	45215136	100775177	58363486	13	1585											
ARHGEF5	7984	genome.wustl.edu	37	7	144059983	144059983	+	Missense_Mutation	SNP	C	C	T	rs201930383		TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr7:144059983C>T	ENST00000056217.5	+	2	395	c.221C>T	c.(220-222)aCg>aTg	p.T74M		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	74					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCGATTGAGACGATGCCCTCT	0.517																																																0			7											1	1	1					7																	144059983		266	701	967	143690916	SO:0001583	missense	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.221C>T	7.37:g.144059983C>T	ENSP00000056217:p.Thr74Met		143690916	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321550	0.23994	.	.	ENSG00000050327	ENST00000056217	T	0.74209	-0.82	4.1	-1.59	0.08453	.	0.814122	0.10096	U	0.716573	T	0.55337	0.1914	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.34625	-0.9821	9	.	.	.	-0.3799	1.2603	0.02000	0.2161:0.3427:0.2828:0.1584	.	74	Q12774	ARHG5_HUMAN	M	74	ENSP00000056217:T74M	.	T	+	2	0	ARHGEF5	143690916	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.306000	0.08178	-0.185000	0.10550	-2.218000	0.00297	ACG		0.517	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		T	144059983	C	T	144059983	3	4	32	1	0	0	0	0	1	0	0	0	909	536	19	1	223	1	ARHGEF5	7	144059983	Missense_Mutation	SNP	C	TCGA-04-1648-01A-01W-0639-09	43284806	144059983	15078680	14	1586											
FAM135B	51059	genome.wustl.edu	37	8	139180268	139180268	+	Silent	SNP	G	G	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr8:139180268G>A	ENST00000395297.1	-	12	1298	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	376										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGATATCCAGGGACAGCTGGC	0.597										HNSCC(54;0.14)																																						0			8											98	106	103					8																	139180268		2109	4227	6336	139249450	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1128C>T	8.37:g.139180268G>A			139249450	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.597	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139180268	G	A	139180268	2	1	32	1	0	0	0	0	0	0	0	1	5449	1219	43	2		2	FAM135B	8	139180268	Silent	SNP	G	TCGA-04-1648-01A-01W-0639-09		139180268	7183754	15	1587											
IFNW1	3467	genome.wustl.edu	37	9	21141414	21141414	+	Nonsense_Mutation	SNP	A	A	T			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr9:21141414A>T	ENST00000380229.2	-	1	730	c.156T>A	c.(154-156)tgT>tgA	p.C52*		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	52					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGTCCTTGAGACACAAGAAAG	0.522																																																0			9											123	125	124					9																	21141414		2203	4300	6503	21131414	SO:0001587	stop_gained	3467				CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.156T>A	9.37:g.21141414A>T	ENSP00000369578:p.Cys52*		21131414	Q13168|Q5U802|Q5VWD0|Q7M4P5	Nonsense_Mutation	SNP	ENST00000380229.2	37	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	-	38	7.283771	0.98186	.	.	ENSG00000177047	ENST00000380229	.	.	.	4.54	-0.905	0.10527	.	0.121078	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1667	0.37056	0.494:0.0:0.506:0.0	.	.	.	.	X	52	.	ENSP00000369578:C52X	C	-	3	2	IFNW1	21131414	0.000000	0.05858	0.039000	0.18376	0.266000	0.26442	-1.019000	0.03622	-0.335000	0.08451	0.383000	0.25322	TGT		0.522	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		T	21141414	A	T	21141414	4	4	32	1	0	0	0	0	0	1	0	0	7552	273	10	5	435	5	IFNW1	9	21141414	Nonsense_Mutation	SNP	A	TCGA-04-1648-01A-01W-0639-09		21141414	120072017	16	1588											
OR4A5	81318	genome.wustl.edu	37	11	51411931	51411931	+	Silent	SNP	C	C	T	rs140587389	byFrequency	TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453													.|||	3	0.000599042	8e-04	0	5008	,	,		21566	0.002		0	False		,,,				2504	0															1	Substitution - coding silent(1)	NS(1)	11						C		3,4399		0,3,2198	86	78	81		465	0.9	0	11	dbSNP_134	81	1,8591		0,1,4295	no	coding-synonymous	OR4A5	NM_001005272.3		0,4,6493	TT,TC,CC		0.0116,0.0682,0.0308		155/316	51411931	4,12990	2201	4296	6497	51268507	SO:0001819	synonymous_variant	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.465G>A	11.37:g.51411931C>T			51268507	Q6IF84	Silent	SNP	ENST00000319760.6	37	CCDS31497.1																																																																																				0.453	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		T	51411931	C	T	51411931	2	4	32	1	0	0	0	0	0	0	0	1	11043	523	19	1		1	OR4A5	11	51411931	Silent	SNP	C	TCGA-04-1648-01A-01W-0639-09		51411931	83594585	17	1589											
CABP4	57010	genome.wustl.edu	37	11	67225049	67225049	+	Missense_Mutation	SNP	G	G	C	rs146764702		TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr11:67225049G>C	ENST00000325656.5	+	4	624	c.547G>C	c.(547-549)Ggc>Cgc	p.G183R	CABP4_ENST00000438189.2_Missense_Mutation_p.G78R|CTC-1337H24.1_ENST00000602912.1_lincRNA	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	183	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGCAGTGGGCGGCCGTGTGGA	0.622																																																0			11						G	ARG/GLY	5,4391		0,5,2193	54	47	49		547	4.6	1	11	dbSNP_134	49	2,8578		0,2,4288	no	missense	CABP4	NM_145200.3	125	0,7,6481	CC,CG,GG		0.0233,0.1137,0.0539	probably-damaging	183/276	67225049	7,12969	2198	4290	6488	66981625	SO:0001583	missense	57010			AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.547G>C	11.37:g.67225049G>C	ENSP00000324960:p.Gly183Arg		66981625	Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872550	0.91587	0.001137	2.33E-4	ENSG00000175544	ENST00000438189;ENST00000325656	T;T	0.55234	0.53;0.53	4.58	4.58	0.56647	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86875	0.2038	10	0.87932	D	0	-27.4611	16.6615	0.85242	0.0:0.0:1.0:0.0	.	183;78	P57796;P57796-2	CABP4_HUMAN;.	R	78;183	ENSP00000401555:G78R;ENSP00000324960:G183R	ENSP00000324960:G183R	G	+	1	0	CABP4	66981625	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.583000	0.82559	2.545000	0.85829	0.655000	0.94253	GGC		0.622	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			C	67225049	G	C	67225049	3	2	32	1	0	0	0	0	1	0	0	0	2533	1116	39	3	561	3	CABP4	11	67225049	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09	15813118	67225049	67781467	18	1590											
CNTN1	1272	genome.wustl.edu	37	12	41327522	41327522	+	Missense_Mutation	SNP	G	G	A	rs201607834		TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr12:41327522G>A	ENST00000551295.2	+	9	944	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	CNTN1_ENST00000547849.1_Missense_Mutation_p.R276Q|CNTN1_ENST00000547702.1_Missense_Mutation_p.R276Q|CNTN1_ENST00000347616.1_Missense_Mutation_p.R276Q|CNTN1_ENST00000348761.2_Missense_Mutation_p.R265Q|CNTN1_ENST00000360099.3_Missense_Mutation_p.R276Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	276	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATCCGATGGCGGAAGGTTCTA	0.378													G|||	1	0.000199681	0	0	5008	,	,		15939	0		0.001	False		,,,				2504	0															0			12											92	93	93					12																	41327522		2202	4299	6501	39613789	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.827G>A	12.37:g.41327522G>A	ENSP00000447006:p.Arg276Gln		39613789	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.9	4.064261	0.76187	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245550	0.39909	N	0.001224	T	0.42988	0.1227	L	0.46819	1.47	0.35450	D	0.795655	P;D;D	0.69078	0.949;0.996;0.997	B;P;P	0.58520	0.35;0.753;0.84	T	0.51795	-0.8660	10	0.51188	T	0.08	.	13.5716	0.61849	0.075:0.0:0.925:0.0	.	276;265;276	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	Q	276;276;276;276;276;265	ENSP00000448004:R276Q;ENSP00000447006:R276Q;ENSP00000448653:R276Q;ENSP00000325660:R276Q;ENSP00000353213:R276Q;ENSP00000261160:R265Q	ENSP00000325660:R276Q	R	+	2	0	CNTN1	39613789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.203000	0.51075	2.642000	0.89623	0.650000	0.86243	CGG		0.378	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		A	41327522	G	A	41327522	3	1	32	1	0	0	0	0	1	0	0	0	3640	1116	39	1	857	1	CNTN1	12	41327522	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09		41327522	92524373	19	1591											
COPZ1	22818	genome.wustl.edu	37	12	54744303	54744303	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr12:54744303G>C	ENST00000262061.2	+	9	567	c.530G>C	c.(529-531)cGg>cCg	p.R177P	COPZ1_ENST00000455864.2_Missense_Mutation_p.R154P|COPZ1_ENST00000416254.2_Missense_Mutation_p.R126P|COPZ1_ENST00000552362.1_Missense_Mutation_p.R160P|COPZ1_ENST00000548753.1_Missense_Mutation_p.R89P|COPZ1_ENST00000552218.1_Missense_Mutation_p.R198P|COPZ1_ENST00000549043.1_Missense_Mutation_p.R185P|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000551779.1_3'UTR|COPZ1_ENST00000549116.1_Missense_Mutation_p.R119P	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	177					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						TCACTCCTTCGGTGAAGACCT	0.478																																																0			12											238	200	213					12																	54744303		2203	4300	6503	53030570	SO:0001583	missense	22818			AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"coatomer protein complex, subunit zeta"	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.530G>C	12.37:g.54744303G>C	ENSP00000262061:p.Arg177Pro		53030570	B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Missense_Mutation	SNP	ENST00000262061.2	37	CCDS8877.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420177	0.62622	.	.	ENSG00000111481	ENST00000262061;ENST00000549043;ENST00000552218;ENST00000552362;ENST00000455864;ENST00000416254;ENST00000549116;ENST00000548753	.	.	.	4.64	3.74	0.42951	.	0.140928	0.48767	N	0.000164	T	0.49813	0.1579	L	0.29908	0.895	0.80722	D	1	P;P;D;P	0.58620	0.938;0.922;0.983;0.892	P;P;P;P	0.51193	0.578;0.662;0.627;0.578	T	0.55431	-0.8142	9	0.87932	D	0	-4.6896	12.7657	0.57391	0.0:0.1666:0.8334:0.0	.	154;185;126;177	B4DDX8;F8VWL5;B4DHZ0;P61923	.;.;.;COPZ1_HUMAN	P	177;185;198;160;154;126;119;89	.	ENSP00000262061:R177P	R	+	2	0	COPZ1	53030570	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.259000	0.72494	1.304000	0.44892	0.555000	0.69702	CGG		0.478	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057		C	54744303	G	C	54744303	3	2	32	1	0	0	0	0	1	0	0	0	3741	1116	39	3	564	3	COPZ1	12	54744303	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09	13416781	54744303	79107592	20	1592											
C12orf26	84190	genome.wustl.edu	37	12	82872797	82872797	+	Silent	SNP	G	G	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr12:82872797G>A	ENST00000248306.3	+	12	1875	c.1806G>A	c.(1804-1806)caG>caA	p.Q602Q	RP11-263K4.5_ENST00000552532.1_lincRNA	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	602							methyltransferase activity (GO:0008168)										TGAAGAAGCAGCAGTGATTTC	0.348																																																0			12											169	149	156					12																	82872797		2203	4300	6503	81396928	SO:0001819	synonymous_variant	84190			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1806G>A	12.37:g.82872797G>A			81396928	Q9H5Y3	Silent	SNP	ENST00000248306.3	37	CCDS9024.1																																																																																				0.348	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		A	82872797	G	A	82872797	2	1	32	1	0	0	0	0	0	0	0	1	1679	962	34	2		2	C12orf26	12	82872797	Silent	SNP	G	TCGA-04-1648-01A-01W-0639-09	28128494	82872797	50979098	21	1593											
TBX5	6910	genome.wustl.edu	37	12	114793709	114793709	+	Silent	SNP	G	G	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr12:114793709G>A	ENST00000310346.4	-	9	1851	c.1185C>T	c.(1183-1185)gaC>gaT	p.D395D	TBX5_ENST00000405440.2_Silent_p.D395D|TBX5_ENST00000349716.5_Silent_p.D345D	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	395					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGCAGCTGATGTCCTCTAGGC	0.637																																					NSCLC(152;1358 1980 4050 23898 40356)											0			12											67	57	60					12																	114793709		2203	4300	6503	113278092	SO:0001819	synonymous_variant	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1185C>T	12.37:g.114793709G>A			113278092	A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	CCDS9173.1																																																																																				0.637	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		A	114793709	G	A	114793709	2	1	32	1	0	0	0	0	0	0	0	1	15661	1368	48	2		2	TBX5	12	114793709	Silent	SNP	G	TCGA-04-1648-01A-01W-0639-09	31920912	114793709	19058186	22	1594											
SPTB	6710	genome.wustl.edu	37	14	65253544	65253544	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr14:65253544G>T	ENST00000389721.5	-	15	3171	c.3139C>A	c.(3139-3141)Cag>Aag	p.Q1047K	SPTB_ENST00000556626.1_Missense_Mutation_p.Q1047K|SPTB_ENST00000542895.1_Missense_Mutation_p.Q1047K|SPTB_ENST00000389720.3_Missense_Mutation_p.Q1047K|SPTB_ENST00000389722.3_Missense_Mutation_p.Q1047K	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1047					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGGATTGCTGCAGGCCCTGC	0.612																																																0			14											54	59	57					14																	65253544		2203	4300	6503	64323297	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3139C>A	14.37:g.65253544G>T	ENSP00000374371:p.Gln1047Lys		64323297	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	0.834	-0.744208	0.03065	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.89	3.99	0.46301	.	0.260691	0.37715	N	0.001978	T	0.22044	0.0531	N	0.05050	-0.12	0.35767	D	0.820586	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.22765	-1.0207	10	0.02654	T	1	.	11.7161	0.51655	0.0:0.0:0.6792:0.3208	.	1047;1051	P11277;Q59FP5	SPTB1_HUMAN;.	K	1051;1047;1047;1047;1047;1047	ENSP00000374372:Q1047K;ENSP00000451752:Q1047K;ENSP00000374371:Q1047K;ENSP00000443882:Q1047K;ENSP00000374370:Q1047K	ENSP00000374370:Q1047K	Q	-	1	0	SPTB	64323297	0.986000	0.35501	0.843000	0.33291	0.707000	0.40811	1.910000	0.39927	1.176000	0.42840	0.549000	0.68633	CAG		0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65253544	G	T	65253544	3	4	32	1	0	0	0	0	1	0	0	0	15120	1328	46	3	4000	3	SPTB	14	65253544	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09		65253544	42095996	23	1595											
SLC10A1	6554	genome.wustl.edu	37	14	70245181	70245181	+	Missense_Mutation	SNP	T	T	G	rs200093127		TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr14:70245181T>G	ENST00000216540.4	-	4	945	c.812A>C	c.(811-813)aAt>aCt	p.N271T		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	271					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	AAAGGCCACATTGAGGATGGT	0.488																																																0			14											168	141	150					14																	70245181		2203	4300	6503	69314934	SO:0001583	missense	6554			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"Solute carriers"	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.812A>C	14.37:g.70245181T>G	ENSP00000216540:p.Asn271Thr		69314934	B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767038	0.31320	.	.	ENSG00000100652	ENST00000216540	T	0.62788	-0.0	4.81	4.81	0.61882	.	0.106561	0.64402	D	0.000006	T	0.35422	0.0931	N	0.11427	0.14	0.33372	D	0.57365	B	0.28258	0.205	B	0.20955	0.032	T	0.44375	-0.9332	10	0.16420	T	0.52	-9.8173	7.1917	0.25828	0.0:0.0787:0.1482:0.773	.	271	Q14973	NTCP_HUMAN	T	271	ENSP00000216540:N271T	ENSP00000216540:N271T	N	-	2	0	SLC10A1	69314934	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	3.233000	0.51311	2.020000	0.59435	0.459000	0.35465	AAT		0.488	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			G	70245181	T	G	70245181	3	3	32	1	0	0	0	0	1	0	0	0	14376	1493	52	5	245	5	SLC10A1	14	70245181	Missense_Mutation	SNP	T	TCGA-04-1648-01A-01W-0639-09	4991637	70245181	37104359	24	1596											
BAHD1	22893	genome.wustl.edu	37	15	40758152	40758152	+	Frame_Shift_Del	DEL	G	G	-	rs557629732		TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr15:40758152delG	ENST00000416165.1	+	7	2237	c.2166delG	c.(2164-2166)atgfs	p.M722fs	BAHD1_ENST00000561234.1_Frame_Shift_Del_p.M721fs|BAHD1_ENST00000560846.1_Frame_Shift_Del_p.M719fs|RP11-64K12.8_ENST00000559730.1_RNA	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	722	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TCTGTGCCATGGCCAAGCGCC	0.577																																																0			15											111	102	105					15																	40758152		2203	4300	6503	38545444	SO:0001589	frameshift_variant	22893			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2166delG	15.37:g.40758152delG	ENSP00000396976:p.Met722fs		38545444	Q8NDF7|Q9Y2F4	Frame_Shift_Del	DEL	ENST00000416165.1	37	CCDS10058.1																																																																																				0.577	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		-	40758152	G	-	40758152	7	5	32	1	0	1	0	1	0	0	0	0	1297	1348	47	0	2188	0	BAHD1	15	40758152	Frame_Shift_Del	DEL	G	TCGA-04-1648-01A-01W-0639-09		40758152	61773240	25	1597											
IGSF6	10261	genome.wustl.edu	37	16	21658719	21658719	+	Silent	SNP	G	G	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr16:21658719G>A	ENST00000268389.4	-	2	223	c.162C>T	c.(160-162)tcC>tcT	p.S54S	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	54	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		ATCCGGTTGCGGAGAAGGTAC	0.562																																																0			16											128	98	108					16																	21658719		2199	4300	6499	21566220	SO:0001819	synonymous_variant	10261			AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"Immunoglobulin superfamily / V-set domain containing"	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.162C>T	16.37:g.21658719G>A			21566220	Q8WWD8	Silent	SNP	ENST00000268389.4	37	CCDS10599.1																																																																																				0.562	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			A	21658719	G	A	21658719	2	1	32	1	0	0	0	0	0	0	0	1	7603	1103	39	1		1	IGSF6	16	21658719	Silent	SNP	G	TCGA-04-1648-01A-01W-0639-09		21658719	68696034	26	1598											
ARMC5	79798	genome.wustl.edu	37	16	31477442	31477442	+	Silent	SNP	T	T	C	rs116201073	byFrequency	TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr16:31477442T>C	ENST00000563544.1	+	7	2586	c.2040T>C	c.(2038-2040)ggT>ggC	p.G680G	ARMC5_ENST00000412665.2_Silent_p.G324G|ARMC5_ENST00000268314.4_Silent_p.G680G|ARMC5_ENST00000538189.1_Silent_p.G712G|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000408912.3_Silent_p.G775G			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	680										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCAGGGTGGTCTCCGGCTCC	0.647													C|||	122	0.024361	0.0893	0.0058	5008	,	,		15259	0		0	False		,,,				2504	0															0			16						C	,	253,3943		8,237,1853	31	36	34		2040,	3	1	16	dbSNP_132	34	1,8425		0,1,4212	no	coding-synonymous,utr-3	ARMC5	NM_001105247.1,NM_024742.2	,	8,238,6065	CC,CT,TT		0.0119,6.0296,2.0124	,	680/936,	31477442	254,12368	2098	4213	6311	31384943	SO:0001819	synonymous_variant	79798			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2040T>C	16.37:g.31477442T>C			31384943	Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	CCDS45472.1																																																																																				0.647	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		C	31477442	T	C	31477442	2	2	32	1	0	0	0	0	0	0	0	1	954	1654	58	4		4	ARMC5	16	31477442	Silent	SNP	T	TCGA-04-1648-01A-01W-0639-09	9818723	31477442	58877311	27	1599											
ATP2C2	9914	genome.wustl.edu	37	16	84497251	84497251	+	Silent	SNP	C	C	T	rs375028020		TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr16:84497251C>T	ENST00000262429.4	+	27	2843	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Silent_p.S947S|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	918					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGGCCTCATCCGTCTTCATTT	0.502																																																0			16						C		1,3867		0,1,1933	108	115	113		2754	-8.8	0.3	16		113	1,8271		0,1,4135	no	coding-synonymous	ATP2C2	NM_014861.2		0,2,6068	TT,TC,CC		0.0121,0.0259,0.0165		918/947	84497251	2,12138	1934	4136	6070	83054752	SO:0001819	synonymous_variant	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2754C>T	16.37:g.84497251C>T			83054752	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	CCDS42207.1																																																																																				0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		T	84497251	C	T	84497251	2	4	32	1	0	0	0	0	0	0	0	1	1144	639	23	1		1	ATP2C2	16	84497251	Silent	SNP	C	TCGA-04-1648-01A-01W-0639-09	53019809	84497251	5857502	28	1600											
SMG6	23293	genome.wustl.edu	37	17	2203659	2203659	+	Missense_Mutation	SNP	G	G	T	rs138301573		TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr17:2203659G>T	ENST00000263073.6	-	2	438	c.388C>A	c.(388-390)Cgt>Agt	p.R130S	SMG6_ENST00000544865.1_Missense_Mutation_p.R99S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	130	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTAGACTACGATCCTCTTGT	0.458																																					Melanoma(59;28 1088 11621 25887 46638 50814)											0			17											141	152	149					17																	2203659		2203	4300	6503	2150409	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.388C>A	17.37:g.2203659G>T	ENSP00000263073:p.Arg130Ser		2150409	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360325	0.24598	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.07444	3.19;3.2	5.6	3.53	0.40419	.	0.545245	0.17711	N	0.164594	T	0.04907	0.0132	L	0.27053	0.805	0.25725	N	0.985338	B	0.28350	0.208	B	0.26517	0.07	T	0.42050	-0.9474	10	0.08381	T	0.77	-0.5847	6.5183	0.22260	0.1011:0.0:0.5898:0.3091	.	130	Q86US8	EST1A_HUMAN	S	130;99	ENSP00000263073:R130S;ENSP00000443920:R99S	ENSP00000263073:R130S	R	-	1	0	SMG6	2150409	0.005000	0.15991	0.998000	0.56505	0.981000	0.71138	1.055000	0.30467	0.651000	0.30788	0.655000	0.94253	CGT		0.458	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			T	2203659	G	T	2203659	3	4	32	1	0	0	0	0	1	0	0	0	14800	1058	37	3	3943	3	SMG6	17	2203659	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09		2203659	78991551	29	1601											
NGFR	4804	genome.wustl.edu	37	17	47590126	47590126	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr17:47590126G>C	ENST00000172229.3	+	6	1164	c.1039G>C	c.(1039-1041)Gtg>Ctg	p.V347L	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.V253L	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	347	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCGGGAGGAGGTGGAGAAGCT	0.647																																																0			17											59	65	63					17																	47590126		2202	4296	6498	44945125	SO:0001583	missense	4804			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1039G>C	17.37:g.47590126G>C	ENSP00000172229:p.Val347Leu		44945125	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646832	0.87958	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.81821	-1.54;-1.54	4.74	4.74	0.60224	Death (3);DEATH-like (2);	0.374675	0.25827	N	0.028058	D	0.85344	0.5675	M	0.76170	2.325	0.50171	D	0.999857	P	0.41784	0.762	P	0.50570	0.644	D	0.83912	0.0296	10	0.27785	T	0.31	-7.0489	16.4949	0.84237	0.0:0.0:1.0:0.0	.	347	P08138	TNR16_HUMAN	L	347;253	ENSP00000172229:V347L;ENSP00000421731:V253L	ENSP00000172229:V347L	V	+	1	0	NGFR	44945125	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.371000	0.73119	2.160000	0.67779	0.561000	0.74099	GTG		0.647	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			C	47590126	G	C	47590126	3	2	32	1	0	0	0	0	1	0	0	0	10396	1261	44	3	1061	3	NGFR	17	47590126	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09	45386467	47590126	33605084	30	1602											
KIAA0802	23255	genome.wustl.edu	37	18	8793102	8793102	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr18:8793102C>A	ENST00000359865.3	+	8	2136	c.1994C>A	c.(1993-1995)aCa>aAa	p.T665K	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron	NM_015210.3	NP_056025.2																					GAGACATTTACAAACAAGATC	0.488																																																0			18											87	96	93					18																	8793102		2203	4300	6503	8783102	SO:0001583	missense	23255																														ENST00000359865.3:c.1994C>A	18.37:g.8793102C>A	ENSP00000352927:p.Thr665Lys		8783102		Missense_Mutation	SNP	ENST00000359865.3	37	CCDS11841.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069549	0.36470	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.40225	1.04	5.52	3.52	0.40303	.	0.822627	0.10514	N	0.665737	T	0.20455	0.0492	N	0.04508	-0.205	0.80722	D	1	B	0.12013	0.005	B	0.12837	0.008	T	0.04537	-1.0944	10	0.07030	T	0.85	.	12.2188	0.54423	0.1277:0.8022:0.0:0.07	.	665	Q9Y4B5-3	.	K	686;665	ENSP00000352927:T665K	ENSP00000305027:T686K	T	+	2	0	CCDC165	8783102	1.000000	0.71417	0.647000	0.29507	0.996000	0.88848	2.631000	0.46502	1.324000	0.45282	0.561000	0.74099	ACA		0.488	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			A	8793102	C	A	8793102	3	1	32	1	0	0	0	0	1	0	0	0	8194	478	17	3	2016	3	KIAA0802	18	8793102	Missense_Mutation	SNP	C	TCGA-04-1648-01A-01W-0639-09		8793102	69284146	31	1603											
NOL4	8715	genome.wustl.edu	37	18	31803028	31803028	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr18:31803028G>T	ENST00000261592.5	-	1	487	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	NOL4_ENST00000590846.1_5'Flank|NOL4_ENST00000589544.1_Missense_Mutation_p.L64M|NOL4_ENST00000535475.1_5'Flank|NOL4_ENST00000538587.1_5'Flank|NOL4_ENST00000269185.4_De_novo_Start_InFrame|RP11-379L18.1_ENST00000587528.1_RNA	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	64						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCTGGCCCAGCTGGAAGCCC	0.577																																																0			18											48	52	51					18																	31803028		1964	4160	6124	30057026	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.190C>A	18.37:g.31803028G>T	ENSP00000261592:p.Leu64Met		30057026	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.919106	0.33908	.	.	ENSG00000101746	ENST00000261592	D	0.84146	-1.81	5.72	5.72	0.89469	.	.	.	.	.	T	0.80778	0.4688	L	0.42245	1.32	0.80722	D	1	B;P	0.35656	0.226;0.514	B;B	0.37989	0.262;0.262	T	0.79888	-0.1613	9	0.48119	T	0.1	-5.0983	10.8545	0.46792	0.086:0.0:0.914:0.0	.	64;64	O94818;O94818-2	NOL4_HUMAN;.	M	64	ENSP00000261592:L64M	ENSP00000261592:L64M	L	-	1	2	NOL4	30057026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.227000	0.65305	2.701000	0.92244	0.561000	0.74099	CTG		0.577	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		T	31803028	G	T	31803028	3	4	32	1	0	0	0	0	1	0	0	0	10524	962	34	3	1770	3	NOL4	18	31803028	Missense_Mutation	SNP	G	TCGA-04-1648-01A-01W-0639-09	23009926	31803028	46274220	32	1604											
PRR12	57479	genome.wustl.edu	37	19	50098268	50098268	+	Missense_Mutation	SNP	C	C	A	rs146291703	byFrequency	TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr19:50098268C>A	ENST00000418929.2	+	4	688	c.676C>A	c.(676-678)Cct>Act	p.P226T		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCAGACCCCCCCTTACCGCCC	0.711													C|||	10	0.00199681	8e-04	0.0043	5008	,	,		8922	0		0.003	False		,,,				2504	0.0031															0			19						C	THR/PRO	8,3838		0,8,1915	8	9	9		676	3.6	1	19	dbSNP_134	9	90,8070		0,90,3990	no	missense	PRR12	NM_020719.1	38	0,98,5905	AA,AC,CC		1.1029,0.208,0.8163	possibly-damaging	226/2037	50098268	98,11908	1923	4080	6003	54790080	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.676C>A	19.37:g.50098268C>A	ENSP00000394510:p.Pro226Thr		54790080	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	10	0.004578754578754579	3	0.006097560975609756	4	0.011049723756906077	0	0.0	3	0.00395778364116095	C	8.389	0.839314	0.16891	0.00208	0.011029	ENSG00000126464	ENST00000418929	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	T	0.11922	0.0290	.	.	.	0.28117	N	0.930771	P	0.46784	0.884	P	0.44673	0.457	T	0.01791	-1.1273	7	0.02654	T	1	.	10.0609	0.42275	0.0:0.6521:0.3479:0.0	.	226	Q9ULL5-3	.	T	226	.	ENSP00000394510:P226T	P	+	1	0	PRR12	54790080	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.234000	0.17930	2.056000	0.61249	0.563000	0.77884	CCT		0.711	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		A	50098268	C	A	50098268	3	1	32	1	0	0	0	0	1	0	0	0	12587	623	22	3	690	3	PRR12	19	50098268	Missense_Mutation	SNP	C	TCGA-04-1648-01A-01W-0639-09		50098268	9030715	33	1605											
SLC9A8	23315	genome.wustl.edu	37	20	48500588	48500588	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr20:48500588delC	ENST00000361573.2	+	14	1518	c.1476delC	c.(1474-1476)agcfs	p.S492fs	SLC9A8_ENST00000417961.1_Frame_Shift_Del_p.S508fs|SLC9A8_ENST00000541138.1_Frame_Shift_Del_p.S192fs|SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.S273fs			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	492					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCAACCTCAGCAAGACTGAGA	0.617																																																0			20											133	109	117					20																	48500588		2203	4300	6503	47933995	SO:0001589	frameshift_variant	23315			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1476delC	20.37:g.48500588delC	ENSP00000354966:p.Ser492fs		47933995	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Frame_Shift_Del	DEL	ENST00000361573.2	37	CCDS13421.1																																																																																				0.617	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		-	48500588	C	-	48500588	7	5	32	1	0	1	0	1	0	0	0	0	14723	709	25	0	1530	0	SLC9A8	20	48500588	Frame_Shift_Del	DEL	C	TCGA-04-1648-01A-01W-0639-09		48500588	14524932	34	1606											
PWP2	5822	genome.wustl.edu	37	21	45547958	45547958	+	Silent	SNP	C	C	T			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr21:45547958C>T	ENST00000291576.7	+	18	2413	c.2286C>T	c.(2284-2286)gcC>gcT	p.A762A	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	762					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TCACCAGGGCCATCCTCATGG	0.687																																																0			21											30	28	28					21																	45547958		2202	4299	6501	44372386	SO:0001819	synonymous_variant	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2286C>T	21.37:g.45547958C>T			44372386	B2RAG8|Q96A77	Silent	SNP	ENST00000291576.7	37	CCDS33579.1																																																																																				0.687	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		T	45547958	C	T	45547958	2	4	32	1	0	0	0	0	0	0	0	1	12847	581	21	2		2	PWP2	21	45547958	Silent	SNP	C	TCGA-04-1648-01A-01W-0639-09		45547958	2581937	35	1607											
MKL1	57591	genome.wustl.edu	37	22	40825656	40825656	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chr22:40825656C>A	ENST00000355630.3	-	7	845	c.255G>T	c.(253-255)gaG>gaT	p.E85D	MKL1_ENST00000396617.3_Missense_Mutation_p.E85D|MKL1_ENST00000402630.1_Missense_Mutation_p.E85D|MKL1_ENST00000407029.1_Missense_Mutation_p.E85D|MKL1_ENST00000402042.1_Missense_Mutation_p.E85D	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	85	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGATGTTCTTCTCCACCAGCT	0.577			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0			22											121	106	111					22																	40825656		2203	4300	6503	39155602	SO:0001583	missense	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.255G>T	22.37:g.40825656C>A	ENSP00000347847:p.Glu85Asp		39155602	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226936	0.79576	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630	D;D;D;D;D	0.99842	-7.1;-7.1;-7.1;-7.1;-7.1	5.25	3.13	0.36017	.	0.232964	0.35466	N	0.003199	D	0.99619	0.9861	L	0.60455	1.87	0.40838	D	0.983642	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67103	0.949;0.924;0.924	D	0.98054	1.0389	10	0.66056	D	0.02	-32.0474	12.0892	0.53715	0.0:0.8581:0.0:0.1419	.	85;85;85	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	D	85	ENSP00000347847:E85D;ENSP00000379861:E85D;ENSP00000385584:E85D;ENSP00000385835:E85D;ENSP00000385076:E85D	ENSP00000347847:E85D	E	-	3	2	MKL1	39155602	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	0.414000	0.21164	0.708000	0.31955	0.467000	0.42956	GAG		0.577	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		A	40825656	C	A	40825656	3	1	32	1	0	0	0	0	1	0	0	0	9601	912	32	3	2576	3	MKL1	22	40825656	Missense_Mutation	SNP	C	TCGA-04-1648-01A-01W-0639-09		40825656	10478910	36	1608											
MAGEB3	4114	genome.wustl.edu	37	X	30254353	30254353	+	Silent	SNP	G	G	T			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chrX:30254353G>T	ENST00000361644.2	+	5	1049	c.312G>T	c.(310-312)gtG>gtT	p.V104V		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	104										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCTCCACTGTGCAGTCTCGCA	0.413																																																0			X											50	43	46					X																	30254353		2202	4300	6502	30164274	SO:0001819	synonymous_variant	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.312G>T	X.37:g.30254353G>T			30164274	A0AVE4|B3KQ52|O75861	Silent	SNP	ENST00000361644.2	37	CCDS14220.1																																																																																				0.413	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		T	30254353	G	T	30254353	2	4	32	1	0	0	0	0	0	0	0	1	9177	1306	46	3		3	MAGEB3	23	30254353	Silent	SNP	G	TCGA-04-1648-01A-01W-0639-09		30254353	125016207	37	1609											
MAGEB1	4112	genome.wustl.edu	37	X	30269047	30269047	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chrX:30269047T>A	ENST00000378981.3	+	4	758	c.437T>A	c.(436-438)tTc>tAc	p.F146Y	MAGEB1_ENST00000397548.2_Missense_Mutation_p.F146Y|MAGEB1_ENST00000397550.1_Missense_Mutation_p.F146Y	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	146	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AAGGATCACTTCACTGAGATC	0.468																																																0			X											64	49	54					X																	30269047		2202	4300	6502	30178968	SO:0001583	missense	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.437T>A	X.37:g.30269047T>A	ENSP00000368264:p.Phe146Tyr		30178968	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.130001	0.56721	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.06528	3.29;3.29;3.29	3.98	3.98	0.46160	.	0.289920	0.34245	N	0.004131	T	0.17238	0.0414	M	0.67953	2.075	0.09310	N	1	D	0.63880	0.993	D	0.63381	0.914	T	0.02037	-1.1225	10	0.54805	T	0.06	.	8.3307	0.32184	0.0:0.0:0.0:1.0	.	146	P43366	MAGB1_HUMAN	Y	146	ENSP00000368264:F146Y;ENSP00000380683:F146Y;ENSP00000380681:F146Y	ENSP00000368264:F146Y	F	+	2	0	MAGEB1	30178968	0.011000	0.17503	0.133000	0.22050	0.009000	0.06853	0.615000	0.24329	1.784000	0.52394	0.481000	0.45027	TTC		0.468	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		A	30269047	T	A	30269047	3	1	32	1	0	0	0	0	1	0	0	0	9172	1783	62	5	439	5	MAGEB1	23	30269047	Missense_Mutation	SNP	T	TCGA-04-1648-01A-01W-0639-09	14694	30269047	125001513	38	1610											
NXF3	56000	genome.wustl.edu	37	X	102339343	102339343	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chrX:102339343T>C	ENST00000395065.3	-	3	379	c.278A>G	c.(277-279)gAg>gGg	p.E93G	NXF3_ENST00000425463.2_Missense_Mutation_p.E4G|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	93					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGGTTTTTGCTCTCTCTCCAT	0.468																																																0			X											229	177	194					X																	102339343		2203	4300	6503	102225999	SO:0001583	missense	56000			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.278A>G	X.37:g.102339343T>C	ENSP00000378504:p.Glu93Gly		102225999	B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	T	7.474	0.647199	0.14516	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.47528	0.93;0.84	3.49	2.22	0.28083	.	1.419340	0.04092	N	0.311378	T	0.30572	0.0769	N	0.19112	0.55	0.09310	N	1	B;B	0.27068	0.167;0.012	B;B	0.22152	0.038;0.009	T	0.18116	-1.0347	10	0.23302	T	0.38	-0.1068	3.8039	0.08768	0.0:0.2295:0.0:0.7705	.	93;93	B4DYI1;Q9H4D5	.;NXF3_HUMAN	G	93;4	ENSP00000378504:E93G;ENSP00000404347:E4G	ENSP00000378504:E93G	E	-	2	0	NXF3	102225999	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.032000	0.12266	0.504000	0.28082	0.441000	0.28932	GAG		0.468	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		C	102339343	T	C	102339343	3	2	32	1	0	0	0	0	1	0	0	0	10785	1551	54	4	1385	4	NXF3	23	102339343	Missense_Mutation	SNP	T	TCGA-04-1648-01A-01W-0639-09	72070296	102339343	52931217	39	1611											
DUSP9	1852	genome.wustl.edu	37	X	152915087	152915087	+	Silent	SNP	C	C	T	rs145220210	byFrequency	TCGA-04-1648-01A-01W-0639-09	TCGA-04-1648-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cde94745-b8b6-474d-a28d-7f5548bd9f13	cc11f6ea-0d2f-476b-be91-c42f228d764a	g.chrX:152915087C>T	ENST00000342782.3	+	3	1039	c.774C>T	c.(772-774)tcC>tcT	p.S258S	DUSP9_ENST00000370167.4_Silent_p.S258S			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	258	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCATCTCCGACCACTGGA	0.567													c|||	1	0.000264901	0	0	3775	,	,		11562	0.001		0	False		,,,				2504	0															0			X											94	97	96					X																	152915087		2203	4300	6503	152568281	SO:0001819	synonymous_variant	1852			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.774C>T	X.37:g.152915087C>T			152568281	D3DWU5	Silent	SNP	ENST00000342782.3	37	CCDS14724.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	8.384	0.838095	0.16891	.	.	ENSG00000130829	ENST00000433144	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50415	-0.8831	4	.	.	.	.	3.1122	0.06363	0.1402:0.1271:0.3824:0.3503	.	.	.	.	L	229	.	.	P	+	2	0	DUSP9	152568281	0.000000	0.05858	0.236000	0.24074	0.973000	0.67179	-6.618000	0.00059	-3.872000	0.00096	-1.222000	0.01597	CCG		0.567	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		T	152915087	C	T	152915087	2	4	32	1	0	0	0	0	0	0	0	1	4832	639	23	1		1	DUSP9	23	152915087	Silent	SNP	C	TCGA-04-1648-01A-01W-0639-09	50575744	152915087	2355473	40	1612											
TARDBP	23435	genome.wustl.edu	37	1	11078856	11078856	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:11078856A>G	ENST00000240185.3	+	4	583	c.469A>G	c.(469-471)Aca>Gca	p.T157A	TARDBP_ENST00000315091.3_Missense_Mutation_p.T157A|TARDBP_ENST00000439080.2_Missense_Mutation_p.T41A	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	157	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GGAATATGAAACACAAGTGAA	0.388																																																0			1											212	199	204					1																	11078856		2203	4300	6503	11001443	SO:0001583	missense	23435			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.469A>G	1.37:g.11078856A>G	ENSP00000240185:p.Thr157Ala		11001443	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	CCDS122.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170470	0.38315	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	D;D;D	0.96073	-3.9;-3.9;-1.98	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044394	0.85682	D	0.000000	D	0.84683	0.5526	N	0.00760	-1.21	0.80722	D	1	B;B	0.15719	0.014;0.009	B;B	0.15870	0.014;0.01	T	0.81936	-0.0705	10	0.13470	T	0.59	-24.6987	16.1699	0.81801	1.0:0.0:0.0:0.0	.	41;157	B4DJ45;Q13148	.;TADBP_HUMAN	A	157;41;157	ENSP00000240185:T157A;ENSP00000404666:T41A;ENSP00000313129:T157A	ENSP00000240185:T157A	T	+	1	0	TARDBP	11001443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.137000	0.77295	2.217000	0.71921	0.533000	0.62120	ACA		0.388	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		G	11078856	A	G	11078856	3	3	33	1	0	0	0	0	1	0	0	0	15557	43	2	4	479	4	TARDBP	1	11078856	Missense_Mutation	SNP	A	TCGA-04-1649-01A-01W-0639-09		11078856	238171765	1	1613											
NFYC	4802	genome.wustl.edu	37	1	41223931	41223931	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:41223931G>T	ENST00000308733.5	+	5	532	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	NFYC_ENST00000372651.1_Missense_Mutation_p.G176W|NFYC_ENST00000456393.2_Missense_Mutation_p.G176W|NFYC_ENST00000427410.2_Missense_Mutation_p.G138W|NFYC_ENST00000372654.1_Missense_Mutation_p.G176W|NFYC_ENST00000440226.3_Missense_Mutation_p.G176W|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Missense_Mutation_p.G176W|NFYC_ENST00000447388.3_Missense_Mutation_p.G176W|NFYC_ENST00000372653.1_Missense_Mutation_p.G176W|NFYC_ENST00000425457.2_Missense_Mutation_p.G176W			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	176					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CATCCAGCCTGGGCAGATCAT	0.602																																																0			1											46	43	44					1																	41223931		2203	4300	6503	40996518	SO:0001583	missense	4802			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.526G>T	1.37:g.41223931G>T	ENSP00000312617:p.Gly176Trp		40996518	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.959031|3.959031	0.74016|0.74016	.|.	.|.	ENSG00000066136|ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000416859;ENST00000308733|ENST00000414185	T;T;T;T;T;T;T;T;T;T;T;T|.	0.58060|.	0.36;0.36;0.36;0.36;0.36;0.99;0.36;0.36;0.36;0.36;1.52;0.36|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72930|0.72930	0.3522|0.3522	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.998;1.0;1.0;0.996;1.0;0.998;0.998;0.998|.	T|T	0.70439|0.70439	-0.4871|-0.4871	10|5	0.87932|.	D|.	0|.	.|.	17.3316|17.3316	0.87265|0.87265	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138;82;176;176;176;176;176;176|.	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6|.	.;.;NFYC_HUMAN;.;.;.;.;.|.	W|L	138;176;176;176;74;74;176;176;176;176;176;176;144;176|58	ENSP00000408315:G138W;ENSP00000404427:G176W;ENSP00000396620:G176W;ENSP00000408867:G176W;ENSP00000361738:G176W;ENSP00000361737:G176W;ENSP00000361754:G176W;ENSP00000361736:G176W;ENSP00000361734:G176W;ENSP00000414299:G176W;ENSP00000409219:G144W;ENSP00000312617:G176W|.	ENSP00000312617:G176W|.	G|W	+|+	1|2	0|0	NFYC|NFYC	40996518|40996518	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.998000|0.998000	0.95712|0.95712	9.413000|9.413000	0.97351|0.97351	2.711000|2.711000	0.92665|0.92665	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.602	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		T	41223931	G	T	41223931	3	4	33	1	0	0	0	0	1	0	0	0	10391	1348	47	3	544	3	NFYC	1	41223931	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	30145075	41223931	208026690	2	1614											
IFI44L	10964	genome.wustl.edu	37	1	79094655	79094655	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:79094655C>G	ENST00000370751.5	+	3	677	c.498C>G	c.(496-498)gaC>gaG	p.D166E	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	166					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATAACCTAGACGACATAAAGA	0.294																																																0			1											83	86	85					1																	79094655		2203	4300	6503	78867243	SO:0001583	missense	10964			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.498C>G	1.37:g.79094655C>G	ENSP00000359787:p.Asp166Glu		78867243	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	CCDS687.2	.	.	.	.	.	.	.	.	.	.	c	2.527	-0.309342	0.05458	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.12984	3.22;2.63	2.88	-0.401	0.12407	.	3.023850	0.02257	N	0.067257	T	0.01765	0.0056	N	0.22421	0.69	0.09310	N	0.999999	B	0.30889	0.299	B	0.28385	0.089	T	0.21552	-1.0242	10	0.06236	T	0.91	1.9621	3.5852	0.07969	0.4343:0.4337:0.0:0.132	.	166	Q53G44	IF44L_HUMAN	E	166;143	ENSP00000359787:D166E;ENSP00000400784:D143E	ENSP00000359787:D166E	D	+	3	2	IFI44L	78867243	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.180000	0.16860	-0.058000	0.13177	-0.473000	0.04963	GAC		0.294	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		G	79094655	C	G	79094655	3	3	33	1	0	0	0	0	1	0	0	0	7518	535	19	3	504	3	IFI44L	1	79094655	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	37870724	79094655	170155966	3	1615											
CLCA4	22802	genome.wustl.edu	37	1	87045700	87045700	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:87045700A>G	ENST00000370563.3	+	14	2474	c.2432A>G	c.(2431-2433)aAt>aGt	p.N811S	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	811					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTCAAGTAAATACTACTGAT	0.343																																																0			1											57	52	53					1																	87045700		1841	4088	5929	86818288	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2432A>G	1.37:g.87045700A>G	ENSP00000359594:p.Asn811Ser		86818288	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.504489	0.44558	.	.	ENSG00000016602	ENST00000370563	T	0.03301	3.98	5.82	4.7	0.59300	.	0.052613	0.64402	D	0.000001	T	0.09379	0.0231	M	0.83223	2.63	0.80722	D	1	D;P	0.57571	0.98;0.944	P;P	0.61328	0.887;0.818	T	0.00763	-1.1576	10	0.72032	D	0.01	-13.4845	11.2728	0.49148	0.9281:0.0:0.0719:0.0	.	363;811	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	S	811	ENSP00000359594:N811S	ENSP00000359594:N811S	N	+	2	0	CLCA4	86818288	0.992000	0.36948	0.028000	0.17463	0.117000	0.20001	2.747000	0.47475	1.039000	0.40074	0.477000	0.44152	AAT		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		G	87045700	A	G	87045700	3	3	33	1	0	0	0	0	1	0	0	0	3459	101	4	4	2486	4	CLCA4	1	87045700	Missense_Mutation	SNP	A	TCGA-04-1649-01A-01W-0639-09	7951045	87045700	162204921	4	1616											
NUDT17	200035	genome.wustl.edu	37	1	145587453	145587453	+	Silent	SNP	G	G	A	rs142717400	byFrequency	TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:145587453G>A	ENST00000334513.5	-	6	638	c.627C>T	c.(625-627)agC>agT	p.S209S	NUDT17_ENST00000444015.2_5'UTR	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	209	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATAAGGGCGCTCACCTCAT	0.597													G|||	71	0.0141773	0.0522	0.0029	5008	,	,		17495	0		0	False		,,,				2504	0															0			1						G		194,4212	122.5+/-159.9	2,190,2011	116	116	116		627	-8.1	0.1	1	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	NUDT17	NM_001012758.2		2,193,6308	AA,AG,GG		0.0349,4.4031,1.5147		209/329	145587453	197,12809	2203	4300	6503	144298810	SO:0001819	synonymous_variant	200035			BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"Nudix motif containing"	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.627C>T	1.37:g.145587453G>A			144298810		Silent	SNP	ENST00000334513.5	37	CCDS30830.1	29	0.013278388278388278	28	0.056910569105691054	1	0.0027624309392265192	0	0.0	0	0.0	G	5.206	0.223489	0.09863	0.044031	3.49E-4	ENSG00000186364	ENST00000444015	.	.	.	5.06	-8.11	0.01082	.	.	.	.	.	T	0.35537	0.0935	.	.	.	0.50039	D	0.999849	.	.	.	.	.	.	T	0.56141	-0.8028	4	.	.	.	-6.3355	11.1844	0.48646	0.6739:0.0951:0.231:0.0	.	.	.	.	C	103	.	.	R	-	1	0	NUDT17	144298810	0.248000	0.23930	0.077000	0.20336	0.610000	0.37248	-1.033000	0.03571	-1.623000	0.01558	-0.137000	0.14449	CGC		0.597	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395		A	145587453	G	A	145587453	2	1	33	1	0	0	0	0	0	0	0	1	10734	1078	38	1		1	NUDT17	1	145587453	Silent	SNP	G	TCGA-04-1649-01A-01W-0639-09	58541753	145587453	103663168	5	1617											
MIA3	375056	genome.wustl.edu	37	1	222827730	222827730	+	Splice_Site	SNP	G	G	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:222827730G>C	ENST00000344922.5	+	17	4402		c.e17-1		MIA3_ENST00000340535.7_Splice_Site|MIA3_ENST00000344441.6_Splice_Site|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3						chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCAATTTTTAGACACAGACTG	0.393																																																0			1											166	149	154					1																	222827730		1851	4099	5950	220894353	SO:0001630	splice_region_variant	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4378-1G>C	1.37:g.222827730G>C			220894353	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Splice_Site	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641784	0.67244	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000354906;ENST00000340535;ENST00000284471	.	.	.	5.57	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8424	0.63446	0.0733:0.0:0.9267:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIA3	220894353	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.090000	0.76916	2.615000	0.88500	0.655000	0.94253	.		0.393	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	Intron	C	222827730	G	C	222827730	5	2	33	1	0	0	0	0	0	0	1	0	9565	956	33	3	4443	3	MIA3	1	222827730	Splice_Site	SNP	G	TCGA-04-1649-01A-01W-0639-09	77240277	222827730	26422891	6	1618											
C1orf131	128061	genome.wustl.edu	37	1	231364922	231364922	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:231364922C>G	ENST00000366649.2	-	3	509	c.484G>C	c.(484-486)Gat>Cat	p.D162H	C1orf131_ENST00000318906.2_Missense_Mutation_p.D162H|C1orf131_ENST00000366651.3_Missense_Mutation_p.D161H			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	162							poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTTGTGTATCCACATCTCTC	0.264																																																0			1											44	45	45					1																	231364922		2198	4297	6495	229431545	SO:0001583	missense	128061			BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.484G>C	1.37:g.231364922C>G	ENSP00000355609:p.Asp162His		229431545	Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Missense_Mutation	SNP	ENST00000366649.2	37	CCDS1591.2	.	.	.	.	.	.	.	.	.	.	C	9.817	1.184764	0.21870	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651	T;T;T	0.48836	0.8;0.8;2.56	4.5	-0.836	0.10770	.	0.724649	0.14225	N	0.333135	T	0.55721	0.1938	M	0.72894	2.215	0.20307	N	0.999915	D;D;D;D	0.67145	0.996;0.958;0.989;0.989	P;P;P;P	0.60473	0.875;0.723;0.742;0.742	T	0.46076	-0.9217	10	0.62326	D	0.03	-9.5578	4.5347	0.12022	0.144:0.5066:0.0:0.3494	.	161;162;161;162	B4E0F7;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;CA131_HUMAN;.;.	H	162;162;161	ENSP00000355609:D162H;ENSP00000321341:D162H;ENSP00000355611:D161H	ENSP00000321341:D162H	D	-	1	0	C1orf131	229431545	0.000000	0.05858	0.346000	0.25655	0.045000	0.14185	-0.321000	0.08018	-0.121000	0.11787	-0.188000	0.12872	GAT		0.264	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1	NM_152379		G	231364922	C	G	231364922	3	3	33	1	0	0	0	0	1	0	0	0	1998	855	30	3	417	3	C1orf131	1	231364922	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	8537192	231364922	17885699	7	1619											
ATAD2B	54454	genome.wustl.edu	37	2	23977524	23977524	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:23977524C>G	ENST00000238789.5	-	26	4542	c.4199G>C	c.(4198-4200)aGa>aCa	p.R1400T	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1400						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCTTCAATCTCTCACGATC	0.408																																																0			2											88	90	89					2																	23977524		1860	4089	5949	23831028	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4199G>C	2.37:g.23977524C>G	ENSP00000238789:p.Arg1400Thr		23831028	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.379013|4.379013	0.82682|0.82682	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.92595	.|-3.07	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.94621|0.94621	0.8266|0.8266	M|M	0.65498|0.65498	2.005|2.005	0.51233|0.51233	D|D	0.999911|0.999911	.|D;D	.|0.65815	.|0.991;0.995	.|P;P	.|0.61003	.|0.766;0.882	D|D	0.94252|0.94252	0.7494|0.7494	5|10	.|0.48119	.|T	.|0.1	.|.	16.2132|16.2132	0.82185|0.82185	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1400;1395	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	H|T	676|1400;568	.|ENSP00000238789:R1400T	.|ENSP00000238789:R1400T	D|R	-|-	1|2	0|0	ATAD2B|ATAD2B	23831028|23831028	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.973000|0.973000	0.67179|0.67179	4.738000|4.738000	0.62073|0.62073	2.595000|2.595000	0.87683|0.87683	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.408	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		G	23977524	C	G	23977524	3	3	33	1	0	0	0	0	1	0	0	0	1072	913	32	3	189	3	ATAD2B	2	23977524	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09		23977524	219221849	8	1620											
KLRAQ1	129285	genome.wustl.edu	37	2	48722868	48722868	+	Silent	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:48722868C>T	ENST00000294952.8	+	16	1807	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	PPP1R21_ENST00000449090.2_Intron|PPP1R21_ENST00000281394.4_Silent_p.I550I	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	550						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						ACCGCCGCATCCTTCTCAGCT	0.413																																																0			2											88	89	88					2																	48722868		2203	4300	6503	48576372	SO:0001819	synonymous_variant	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1650C>T	2.37:g.48722868C>T			48576372	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	ENST00000294952.8	37	CCDS46278.1																																																																																				0.413	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		T	48722868	C	T	48722868	2	4	33	1	0	0	0	0	0	0	0	1	8413	845	30	2		2	KLRAQ1	2	48722868	Silent	SNP	C	TCGA-04-1649-01A-01W-0639-09	24745344	48722868	194476505	9	1621											
XIRP2	129446	genome.wustl.edu	37	2	168103007	168103007	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:168103007C>A	ENST00000409195.1	+	9	5194	c.5105C>A	c.(5104-5106)aCa>aAa	p.T1702K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1480K|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1702K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1527					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGGTGACACAATTGAGCGT	0.328																																																0			2											127	123	125					2																	168103007		1886	4104	5990	167811253	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5105C>A	2.37:g.168103007C>A	ENSP00000386840:p.Thr1702Lys		167811253	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.094	-1.163246	0.01673	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02345	4.33;4.33;4.33	5.59	2.42	0.29668	.	0.557593	0.19443	N	0.114126	T	0.01454	0.0047	N	0.03948	-0.315	0.19300	N	0.999972	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.11329	0.002;0.006;0.004	T	0.48198	-0.9056	10	0.30854	T	0.27	-2.6659	7.6869	0.28546	0.384:0.5287:0.0:0.0872	.	1527;1527;1480	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	1702;1702;1480	ENSP00000386840:T1702K;ENSP00000295237:T1702K;ENSP00000387255:T1480K	ENSP00000295237:T1702K	T	+	2	0	XIRP2	167811253	0.000000	0.05858	0.476000	0.27291	0.982000	0.71751	0.014000	0.13333	0.680000	0.31366	0.650000	0.86243	ACA		0.328	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168103007	C	A	168103007	3	1	33	1	0	0	0	0	1	0	0	0	17430	478	17	3	5135	3	XIRP2	2	168103007	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	119380139	168103007	75096366	10	1622											
CALCRL	10203	genome.wustl.edu	37	2	188211047	188211047	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:188211047C>T	ENST00000409998.1	-	16	2031	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.R417H|CALCRL_ENST00000410068.1_Missense_Mutation_p.R417H			Q16602	CALRL_HUMAN	calcitonin receptor-like	417					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AGACGCACTACGAAGAGCTTC	0.373																																																0			2											127	118	121					2																	188211047		2203	4299	6502	187919292	SO:0001583	missense	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1250G>A	2.37:g.188211047C>T	ENSP00000386972:p.Arg417His		187919292	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312651	0.95655	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.73575	-0.76;-0.76;-0.76	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000006	D	0.86883	0.6040	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85517	0.1201	10	0.37606	T	0.19	.	18.8306	0.92137	0.0:1.0:0.0:0.0	.	417	Q16602	CALRL_HUMAN	H	417	ENSP00000376177:R417H;ENSP00000386972:R417H;ENSP00000387190:R417H	ENSP00000376177:R417H	R	-	2	0	CALCRL	187919292	1.000000	0.71417	0.995000	0.50966	0.884000	0.51177	7.478000	0.81082	2.673000	0.90976	0.655000	0.94253	CGT		0.373	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		T	188211047	C	T	188211047	3	4	33	1	0	0	0	0	1	0	0	0	2580	536	19	1	139	1	CALCRL	2	188211047	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	20108040	188211047	54988326	11	1623											
COL5A2	1290	genome.wustl.edu	37	2	189901385	189901385	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:189901385T>C	ENST00000374866.3	-	52	4344	c.4070A>G	c.(4069-4071)aAt>aGt	p.N1357S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1357	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AACAGGTTTATTGTCAGGAGA	0.348																																																0			2											101	90	94					2																	189901385		2203	4300	6503	189609630	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4070A>G	2.37:g.189901385T>C	ENSP00000364000:p.Asn1357Ser		189609630	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.516248	0.44763	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.89050	-2.46	5.98	5.98	0.97165	Fibrillar collagen, C-terminal (3);	0.920794	0.09076	N	0.852125	D	0.82273	0.5001	N	0.17800	0.525	0.09310	N	0.999995	B;B	0.20164	0.012;0.042	B;B	0.24701	0.037;0.055	T	0.67677	-0.5609	10	0.19590	T	0.45	.	11.3004	0.49302	0.1678:0.0:0.0:0.8322	.	997;1357	Q5PR22;P05997	.;CO5A2_HUMAN	S	1357;997	ENSP00000364000:N1357S	ENSP00000364000:N1357S	N	-	2	0	COL5A2	189609630	0.425000	0.25498	0.928000	0.36995	0.747000	0.42532	1.073000	0.30691	2.289000	0.77006	0.482000	0.46254	AAT		0.348	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		C	189901385	T	C	189901385	3	2	33	1	0	0	0	0	1	0	0	0	3697	1493	52	4	441	4	COL5A2	2	189901385	Missense_Mutation	SNP	T	TCGA-04-1649-01A-01W-0639-09	1690338	189901385	53297988	12	1624											
CTDSP1	58190	genome.wustl.edu	37	2	219269106	219269106	+	Silent	SNP	C	C	T	rs575930072		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:219269106C>T	ENST00000273062.2	+	7	1080	c.744C>T	c.(742-744)gaC>gaT	p.D248D	CTDSP1_ENST00000443891.1_Silent_p.D247D|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	248					negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGTGTGGACGACGTGTACT	0.617													C|||	1	0.000199681	0	0	5008	,	,		17878	0		0	False		,,,				2504	0.001															0			2											144	115	125					2																	219269106		2203	4300	6503	218977350	SO:0001819	synonymous_variant	58190			AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	21614	protein-coding gene	gene with protein product	"nuclear LIM interactor-interacting factor", "small CTD phosphatase 1"	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.744C>T	2.37:g.219269106C>T			218977350	C9IYG0|Q7Z5Q3|Q7Z5Q4	Silent	SNP	ENST00000273062.2	37	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	C	5.109	0.205725	0.09704	.	.	ENSG00000144579	ENST00000452977;ENST00000428361	.	.	.	5.32	-2.09	0.07232	.	.	.	.	.	T	0.53932	0.1827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49943	-0.8885	4	.	.	.	-25.9874	8.8476	0.35179	0.0:0.6058:0.1018:0.2924	.	.	.	.	M	241;249	.	.	T	+	2	0	CTDSP1	218977350	0.000000	0.05858	0.987000	0.45799	0.353000	0.29299	-2.567000	0.00916	-0.299000	0.08909	0.591000	0.81541	ACG		0.617	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		T	219269106	C	T	219269106	2	4	33	1	0	0	0	0	0	0	0	1	4003	535	19	1		1	CTDSP1	2	219269106	Silent	SNP	C	TCGA-04-1649-01A-01W-0639-09	29367721	219269106	23930267	13	1625											
ADAMTS9	56999	genome.wustl.edu	37	3	64644277	64644277	+	Silent	SNP	G	G	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr3:64644277G>C	ENST00000498707.1	-	4	1212	c.870C>G	c.(868-870)tcC>tcG	p.S290S	ADAMTS9_ENST00000459780.1_Silent_p.S290S|ADAMTS9_ENST00000295903.4_Silent_p.S290S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	290					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACCGTGGATAGGATAAAAAAC	0.393																																																0			3											196	192	193					3																	64644277		2203	4300	6503	64619317	SO:0001819	synonymous_variant	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.870C>G	3.37:g.64644277G>C			64619317	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	CCDS2903.1																																																																																				0.393	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			C	64644277	G	C	64644277	2	2	33	1	0	0	0	0	0	0	0	1	273	987	35	3		3	ADAMTS9	3	64644277	Silent	SNP	G	TCGA-04-1649-01A-01W-0639-09		64644277	133378153	14	1626											
OTOL1	131149	genome.wustl.edu	37	3	161221252	161221252	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr3:161221252G>A	ENST00000327928.4	+	4	956	c.956G>A	c.(955-957)cGa>cAa	p.R319Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	319	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAAGGGGTCCGAGGCCCCACT	0.567																																																0			3											30	31	30					3																	161221252		1864	4095	5959	162703946	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.956G>A	3.37:g.161221252G>A	ENSP00000330808:p.Arg319Gln		162703946		Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570392	0.28003	.	.	ENSG00000182447	ENST00000327928	D	0.93604	-3.25	5.23	4.36	0.52297	.	0.115802	0.56097	N	0.000021	D	0.86364	0.5915	L	0.28115	0.83	0.35471	D	0.797364	P	0.39903	0.694	B	0.34452	0.183	D	0.86710	0.1935	10	0.22706	T	0.39	.	12.8338	0.57761	0.0799:0.0:0.92:0.0	.	319	A6NHN0	OTOL1_HUMAN	Q	319	ENSP00000330808:R319Q	ENSP00000330808:R319Q	R	+	2	0	OTOL1	162703946	0.997000	0.39634	0.423000	0.26634	0.084000	0.17831	6.412000	0.73303	1.191000	0.43056	0.557000	0.71058	CGA		0.567	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		A	161221252	G	A	161221252	3	1	33	1	0	0	0	0	1	0	0	0	11304	1058	37	1	970	1	OTOL1	3	161221252	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	96576975	161221252	36801178	15	1627											
SPRY1	10252	genome.wustl.edu	37	4	124323324	124323324	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr4:124323324C>A	ENST00000394339.2	+	2	918	c.578C>A	c.(577-579)aCt>aAt	p.T193N	SPRY1_ENST00000339241.1_Missense_Mutation_p.T193N	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	193	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GGAGAATGCACTGCTCCCAGG	0.502																																																0			4											181	151	161					4																	124323324		2203	4300	6503	124542774	SO:0001583	missense	10252			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.578C>A	4.37:g.124323324C>A	ENSP00000377871:p.Thr193Asn		124542774	D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203078	0.79127	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.57595	0.39;1.07;0.39	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.71925	-0.4445	9	.	.	.	-13.5863	18.2393	0.89961	0.0:1.0:0.0:0.0	.	193	O43609	SPY1_HUMAN	N	193	ENSP00000343785:T193N;ENSP00000421036:T193N;ENSP00000377871:T193N	.	T	+	2	0	SPRY1	124542774	1.000000	0.71417	0.966000	0.40874	0.960000	0.62799	5.266000	0.65525	2.622000	0.88805	0.561000	0.74099	ACT		0.502	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			A	124323324	C	A	124323324	3	1	33	1	0	0	0	0	1	0	0	0	15107	565	20	3	580	3	SPRY1	4	124323324	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09		124323324	66830952	16	1628											
SLC36A2	153201	genome.wustl.edu	37	5	150712790	150712790	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr5:150712790C>G	ENST00000335244.4	-	7	967	c.838G>C	c.(838-840)Ggt>Cgt	p.G280R	SLC36A2_ENST00000450886.1_5'Flank|SLC36A2_ENST00000521967.1_Missense_Mutation_p.G280R	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	280					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CTTACCACACCAATGCTTTCA	0.498																																																0			5											98	95	96					5																	150712790		2203	4300	6503	150692983	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.838G>C	5.37:g.150712790C>G	ENSP00000334223:p.Gly280Arg		150692983	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	CCDS4315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.636175|4.636175	0.87760|0.87760	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000335244;ENST00000521967|ENST00000523044	T;T|.	0.02345|.	4.33;4.33|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.102446|.	0.64402|.	D|.	0.000003|.	D|D	0.86527|0.86527	0.5954|0.5954	M|M	0.93241|0.93241	3.395|3.395	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.991|.	D;D|.	0.71656|.	0.974;0.956|.	D|D	0.90131|0.90131	0.4206|0.4206	10|5	0.87932|.	D|.	0|.	-16.0714|-16.0714	17.8308|17.8308	0.88682|0.88682	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	280;280|.	E5RJJ5;Q495M3|.	.;S36A2_HUMAN|.	R|F	280|32	ENSP00000334223:G280R;ENSP00000430535:G280R|.	ENSP00000334223:G280R|.	G|L	-|-	1|3	0|2	SLC36A2|SLC36A2	150692983|150692983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.317000|7.317000	0.79018|0.79018	2.612000|2.612000	0.88384|0.88384	0.585000|0.585000	0.79938|0.79938	GGT|TTG		0.498	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			G	150712790	C	G	150712790	3	3	33	1	0	0	0	0	1	0	0	0	14597	594	21	3	629	3	SLC36A2	5	150712790	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09		150712790	30202470	17	1629											
DOK3	79930	genome.wustl.edu	37	5	176936638	176936638	+	Silent	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr5:176936638C>T	ENST00000357198.4	-	2	76	c.72G>A	c.(70-72)acG>acA	p.T24T	DOK3_ENST00000501403.2_5'UTR|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_5'UTR	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	24					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GGCCACTTCCCGTCCCTCCGT	0.652																																																0			5											42	46	45					5																	176936638		2203	4300	6503	176869244	SO:0001819	synonymous_variant	79930			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.72G>A	5.37:g.176936638C>T			176869244	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	ENST00000357198.4	37	CCDS4426.1																																																																																				0.652	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		T	176936638	C	T	176936638	2	4	33	1	0	0	0	0	0	0	0	1	4698	639	23	1		1	DOK3	5	176936638	Silent	SNP	C	TCGA-04-1649-01A-01W-0639-09	26223848	176936638	3978622	18	1630											
SYNE1	23345	genome.wustl.edu	37	6	152770678	152770678	+	Missense_Mutation	SNP	C	C	T	rs201354687		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr6:152770678C>T	ENST00000367255.5	-	28	4095	c.3494G>A	c.(3493-3495)cGt>cAt	p.R1165H	SYNE1_ENST00000367253.4_Missense_Mutation_p.R1165H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1172H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1172H|SYNE1_ENST00000367248.3_Missense_Mutation_p.R1155H|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1165H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1231H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1165H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1165					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAACGGCACGTTTAACCTC	0.398										HNSCC(10;0.0054)																																						0			6											117	108	111					6																	152770678		2203	4300	6503	152812371	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3494G>A	6.37:g.152770678C>T	ENSP00000356224:p.Arg1165His		152812371	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684630	0.29872	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	6.07	-11.5	0.00074	.	1.666390	0.03071	N	0.157160	T	0.03305	0.0096	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0;0.001	B;B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.001;0.002	T	0.08554	-1.0716	10	0.12766	T	0.61	.	8.6336	0.33935	0.078:0.1264:0.1102:0.6853	.	1148;1165;1155;1165;1165;1172	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	H	1165;1172;1165;1172;1231;1165;1155;1165	ENSP00000356224:R1165H;ENSP00000396024:R1172H;ENSP00000265368:R1165H;ENSP00000390975:R1172H;ENSP00000341887:R1231H;ENSP00000356222:R1165H;ENSP00000356217:R1155H;ENSP00000414510:R1165H	ENSP00000265368:R1165H	R	-	2	0	SYNE1	152812371	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.926000	0.03988	-1.984000	0.00985	-0.793000	0.03317	CGT		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152770678	C	T	152770678	3	4	33	1	0	0	0	0	1	0	0	0	15445	536	19	1	23448	1	SYNE1	6	152770678	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09		152770678	18344389	19	1631											
PNLDC1	154197	genome.wustl.edu	37	6	160240002	160240002	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr6:160240002A>T	ENST00000610273.1	+	17	1420	c.1249A>T	c.(1249-1251)Agt>Tgt	p.S417C	PNLDC1_ENST00000392167.3_Missense_Mutation_p.S428C	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	417						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGATTATCCCAGTATCCGACC	0.443																																																0			6											96	101	100					6																	160240002		2203	4300	6503	160159992	SO:0001583	missense	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1249A>T	6.37:g.160240002A>T	ENSP00000476448:p.Ser417Cys		160159992	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	A	9.715	1.158091	0.21454	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	2.17	0.27698	.	0.300780	0.29106	N	0.013128	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.32929	-0.9888	9	0.36615	T	0.2	.	4.169	0.10320	0.6673:0.0:0.1728:0.1599	.	428;417	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	C	417;428	.	ENSP00000275275:S417C	S	+	1	0	PNLDC1	160159992	0.988000	0.35896	0.381000	0.26106	0.953000	0.61014	1.601000	0.36773	0.282000	0.22254	-0.543000	0.04237	AGT		0.443	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		T	160240002	A	T	160240002	3	4	33	1	0	0	0	0	1	0	0	0	12148	188	7	5	1311	5	PNLDC1	6	160240002	Missense_Mutation	SNP	A	TCGA-04-1649-01A-01W-0639-09	7469324	160240002	10875065	20	1632											
SMOC2	64094	genome.wustl.edu	37	6	168949839	168949839	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr6:168949839C>A	ENST00000356284.2	+	7	813	c.593C>A	c.(592-594)aCt>aAt	p.T198N	SMOC2_ENST00000354536.5_Missense_Mutation_p.T209N	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	198					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ACCCTTTGGACTGAACAGGTT	0.373																																																0			6											160	139	146					6																	168949839		2203	4300	6503	168692688	SO:0001583	missense	64094			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.593C>A	6.37:g.168949839C>A	ENSP00000348630:p.Thr198Asn		168692688	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	.	7.658	0.684353	0.14907	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.36340	1.26;1.28	5.02	5.02	0.67125	.	0.133960	0.47852	D	0.000204	T	0.06735	0.0172	N	0.03608	-0.345	0.30979	N	0.722655	B;P	0.38767	0.004;0.646	B;B	0.32980	0.004;0.156	T	0.11372	-1.0590	10	0.16420	T	0.52	-21.9085	15.5789	0.76418	0.0:1.0:0.0:0.0	.	198;209	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	N	198;209;198	ENSP00000348630:T198N;ENSP00000346537:T209N	ENSP00000346537:T209N	T	+	2	0	SMOC2	168692688	1.000000	0.71417	0.927000	0.36925	0.127000	0.20565	3.919000	0.56439	2.327000	0.79052	0.650000	0.86243	ACT		0.373	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			A	168949839	C	A	168949839	3	1	33	1	0	0	0	0	1	0	0	0	14805	565	20	3	652	3	SMOC2	6	168949839	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	8709837	168949839	2165228	21	1633											
POM121L12	285877	genome.wustl.edu	37	7	53103790	53103790	+	Silent	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr7:53103790G>A	ENST00000408890.4	+	1	442	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCGGGATCGCGCCCCCTGAGC	0.721																																																0			7											21	25	23					7																	53103790		1945	4101	6046	53071284	SO:0001819	synonymous_variant	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.426G>A	7.37:g.53103790G>A			53071284	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																				0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		A	53103790	G	A	53103790	2	1	33	1	0	0	0	0	0	0	0	1	12241	1074	38	1		1	POM121L12	7	53103790	Silent	SNP	G	TCGA-04-1649-01A-01W-0639-09		53103790	106034873	22	1634											
LOC441294	441294	genome.wustl.edu	37	7	143270363	143270363	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr7:143270363C>G	ENST00000420911.2	+	1	1470	c.1453C>G	c.(1453-1455)Cac>Gac	p.H485D	RNU6-162P_ENST00000516228.1_RNA	NM_001008747.1	NP_001008747.1	A4D2H0	CTGEF_HUMAN	CTAGE family, member 15	485						integral component of membrane (GO:0016021)											AGAAAATGCTCACAACAAACA	0.358																																																0			7											3	4	3					7																	143270363		786	1796	2582	142980485	SO:0001583	missense	441294				CCDS64788.1	7q35	2013-02-25	2013-02-25	2013-02-25	ENSG00000176227	ENSG00000271079			37295	protein-coding gene	gene with protein product			"CTAGE family, member 15, pseudogene"	CTAGE15P			Standard	NM_001008747		Approved		uc011kth.3	A4D2H0	OTTHUMG00000153233	ENST00000420911.2:c.1453C>G	7.37:g.143270363C>G	ENSP00000474204:p.His485Asp		142980485	A6H8Z8	Missense_Mutation	SNP	ENST00000420911.2	37																																																																																					0.358	CTAGE15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330280.2	NM_001008747		G	143270363	C	G	143270363	3	3	33	1	0	0	0	0	1	0	0	0	8880	826	29	3	1455	3	LOC441294	7	143270363	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	90166573	143270363	15868300	23	1635											
FAM115A	9747	genome.wustl.edu	37	7	143555937	143555937	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr7:143555937C>T	ENST00000479870.1	-	7	2693	c.2485G>A	c.(2485-2487)Gca>Aca	p.A829T	FAM115A_ENST00000392900.3_5'UTR|FAM115A_ENST00000355951.2_Missense_Mutation_p.A829T	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	829	Peptidase M60.									NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GTTTCCAGTGCGGTCCATGCA	0.532																																																0			7											2	2	2					7																	143555937		879	1865	2744	143186870	SO:0001583	missense	9747			AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.2485G>A	7.37:g.143555937C>T	ENSP00000419235:p.Ala829Thr		143186870	A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	SNP	ENST00000479870.1	37	CCDS5886.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839501	0.71488	.	.	ENSG00000198420	ENST00000479870;ENST00000355951	.	.	.	3.21	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.80979	0.4728	M	0.90145	3.09	0.38002	D	0.934259	D	0.89917	1.0	D	0.97110	1.0	D	0.86326	0.1695	9	0.66056	D	0.02	-15.0825	12.6981	0.57016	0.0:1.0:0.0:0.0	.	829	Q9Y4C2	F115A_HUMAN	T	829	.	ENSP00000348220:A829T	A	-	1	0	FAM115A	143186870	1.000000	0.71417	0.836000	0.33094	0.974000	0.67602	5.115000	0.64655	2.102000	0.63906	0.655000	0.94253	GCA		0.532	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		T	143555937	C	T	143555937	3	4	33	1	0	0	0	0	1	0	0	0	5405	768	27	1	292	1	FAM115A	7	143555937	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	285574	143555937	15582726	24	1636											
PTPRN2	5799	genome.wustl.edu	37	7	157387960	157387960	+	Silent	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr7:157387960C>T	ENST00000389418.4	-	17	2475	c.2466G>A	c.(2464-2466)ccG>ccA	p.P822P	PTPRN2_ENST00000404321.2_Silent_p.P845P|PTPRN2_ENST00000389413.3_Silent_p.P793P|PTPRN2_ENST00000409483.1_Silent_p.P784P|PTPRN2_ENST00000389416.4_Silent_p.P805P	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	822	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P822P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCGGGCAGCGGTCCCTGGG	0.517																																																1	Substitution - coding silent(1)	lung(1)	7											58	65	63					7																	157387960		2203	4300	6503	157080721	SO:0001819	synonymous_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2466G>A	7.37:g.157387960C>T			157080721	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	CCDS5947.1																																																																																				0.517	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			T	157387960	C	T	157387960	2	4	33	1	0	0	0	0	0	0	0	1	12811	755	27	1		1	PTPRN2	7	157387960	Silent	SNP	C	TCGA-04-1649-01A-01W-0639-09	13832023	157387960	1750703	25	1637											
PPP2R2A	5520	genome.wustl.edu	37	8	26212032	26212032	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr8:26212032T>C	ENST00000380737.3	+	4	558	c.229T>C	c.(229-231)Ttc>Ctc	p.F77L	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.F87L	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	77					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTACAGCACCTTCCAGAGCCA	0.323																																																0			8											93	96	95					8																	26212032		2203	4300	6503	26267949	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.229T>C	8.37:g.26212032T>C	ENSP00000370113:p.Phe77Leu		26267949	B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	T	35	5.454532	0.96223	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.28255	1.62;1.62	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.53834	0.1821	M	0.82517	2.595	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.56163	0.793;0.793	T	0.59182	-0.7502	10	0.52906	T	0.07	-0.6623	16.326	0.82979	0.0:0.0:0.0:1.0	.	87;77	B4E1T7;P63151	.;2ABA_HUMAN	L	77;87	ENSP00000370113:F77L;ENSP00000325074:F87L	ENSP00000325074:F87L	F	+	1	0	PPP2R2A	26267949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.258000	0.74832	0.528000	0.53228	TTC		0.323	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		C	26212032	T	C	26212032	3	2	33	1	0	0	0	0	1	0	0	0	12387	1609	56	4	284	4	PPP2R2A	8	26212032	Missense_Mutation	SNP	T	TCGA-04-1649-01A-01W-0639-09		26212032	120151990	26	1638											
WRN	7486	genome.wustl.edu	37	8	30999079	30999079	+	Missense_Mutation	SNP	A	A	T	rs200370409	byFrequency	TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr8:30999079A>T	ENST00000298139.5	+	25	3350	c.3101A>T	c.(3100-3102)tAt>tTt	p.Y1034F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1034					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTTTCTCGGTATAACAAATTT	0.418			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A|||	3	0.000599042	0	0.0014	5008	,	,		17133	0		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0			8						A	PHE/TYR	0,4406		0,0,2203	106	104	104		3101	-11.6	0	8		104	4,8596	3.7+/-12.6	0,4,4296	yes	missense	WRN	NM_000553.4	22	0,4,6499	TT,TA,AA		0.0465,0.0,0.0308	benign	1034/1433	30999079	4,13002	2203	4300	6503	31118621	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3101A>T	8.37:g.30999079A>T	ENSP00000298139:p.Tyr1034Phe		31118621	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	A	4.199	0.035626	0.08148	0.0	4.65E-4	ENSG00000165392	ENST00000298139	T	0.28895	1.59	5.8	-11.6	0.00059	RQC domain (2);	4.093300	0.00424	N	0.000076	T	0.17704	0.0425	N	0.21240	0.645	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.27500	0.008;0.08	T	0.10776	-1.0615	10	0.23891	T	0.37	27.9441	7.2228	0.25997	0.2314:0.3503:0.3538:0.0645	.	444;1034	Q59F09;Q14191	.;WRN_HUMAN	F	1034	ENSP00000298139:Y1034F	ENSP00000298139:Y1034F	Y	+	2	0	WRN	31118621	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.823000	0.00357	-3.589000	0.00136	-1.887000	0.00540	TAT		0.418	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			T	30999079	A	T	30999079	3	4	33	1	0	0	0	0	1	0	0	0	17402	449	16	5	3195	5	WRN	8	30999079	Missense_Mutation	SNP	A	TCGA-04-1649-01A-01W-0639-09	4787047	30999079	115364943	27	1639											
NECAB1	64168	genome.wustl.edu	37	8	91813934	91813934	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr8:91813934G>A	ENST00000417640.2	+	2	452	c.115G>A	c.(115-117)Gac>Aac	p.D39N	NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAGGAGAGCAGACAAAAATGG	0.289																																																0			8											22	22	22					8																	91813934		1724	3886	5610	91883110	SO:0001583	missense	64168			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.115G>A	8.37:g.91813934G>A	ENSP00000387380:p.Asp39Asn		91883110	Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	ENST00000417640.2	37	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538214	0.85917	.	.	ENSG00000123119	ENST00000417640	D	0.97710	-4.5	5.38	5.38	0.77491	EF-hand-like domain (1);	.	.	.	.	D	0.98658	0.9550	M	0.87456	2.885	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.99066	1.0832	9	0.87932	D	0	-0.8013	14.5095	0.67774	0.0:0.0:1.0:0.0	.	39	Q8N987	NECA1_HUMAN	N	39	ENSP00000387380:D39N	ENSP00000387380:D39N	D	+	1	0	NECAB1	91883110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.457000	0.60088	2.793000	0.96121	0.655000	0.94253	GAC		0.289	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		A	91813934	G	A	91813934	3	1	33	1	0	0	0	0	1	0	0	0	10304	942	33	2	121	2	NECAB1	8	91813934	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	60814855	91813934	54550088	28	1640											
ZFAT	57623	genome.wustl.edu	37	8	135596164	135596164	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr8:135596164G>C	ENST00000377838.3	-	10	2972	c.2798C>G	c.(2797-2799)aCt>aGt	p.T933S	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520214.1_Missense_Mutation_p.T921S|ZFAT_ENST00000523399.1_Missense_Mutation_p.T871S|ZFAT_ENST00000520727.1_Missense_Mutation_p.T921S|ZFAT_ENST00000429442.2_Missense_Mutation_p.T921S|ZFAT_ENST00000520356.1_Missense_Mutation_p.T921S	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	933					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGTTTTCTCAGTGCTGTGACG	0.433																																																0			8											140	123	128					8																	135596164		1945	4166	6111	135665346	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2798C>G	8.37:g.135596164G>C	ENSP00000367069:p.Thr933Ser		135665346	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762546	0.49574	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.68	5.68	0.88126	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063431	0.64402	D	0.000007	T	0.31071	0.0785	N	0.03891	-0.335	0.42244	D	0.991949	D;D;D	0.89917	1.0;0.975;0.999	D;D;D	0.87578	0.998;0.955;0.996	T	0.51841	-0.8654	10	0.62326	D	0.03	-16.4646	18.7762	0.91912	0.0:0.0:1.0:0.0	.	871;921;933	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	S	921;921;921;933;921;820;871	ENSP00000427879:T921S;ENSP00000427831:T921S;ENSP00000394501:T921S;ENSP00000367069:T933S;ENSP00000428483:T921S;ENSP00000429091:T871S	ENSP00000326997:T820S	T	-	2	0	ZFAT	135665346	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.934000	0.56553	2.669000	0.90835	0.563000	0.77884	ACT		0.433	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		C	135596164	G	C	135596164	3	2	33	1	0	0	0	0	1	0	0	0	17632	1029	36	3	961	3	ZFAT	8	135596164	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	43782230	135596164	10767858	29	1641											
KIAA0020	9933	genome.wustl.edu	37	9	2838437	2838437	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr9:2838437T>A	ENST00000397885.2	-	2	277	c.71A>T	c.(70-72)cAt>cTt	p.H24L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	24						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ACTATTTTTATGAAATCTGTT	0.373																																																0			9											210	195	199					9																	2838437		1839	4093	5932	2828437	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.71A>T	9.37:g.2838437T>A	ENSP00000380982:p.His24Leu		2828437	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	T	3.787	-0.044460	0.07452	.	.	ENSG00000080608	ENST00000397885	D	0.87491	-2.26	4.59	-3.53	0.04667	.	1.289200	0.04916	N	0.454051	T	0.73544	0.3600	N	0.14661	0.345	0.20764	N	0.999859	B	0.09022	0.002	B	0.06405	0.002	T	0.57435	-0.7812	10	0.27785	T	0.31	-13.198	6.2688	0.20943	0.0:0.3842:0.139:0.4768	.	24	Q15397	K0020_HUMAN	L	24	ENSP00000380982:H24L	ENSP00000380982:H24L	H	-	2	0	KIAA0020	2828437	0.503000	0.26115	0.018000	0.16275	0.455000	0.32408	-0.288000	0.08377	-0.792000	0.04480	-0.250000	0.11733	CAT		0.373	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		A	2838437	T	A	2838437	3	1	33	1	0	0	0	0	1	0	0	0	8152	1464	51	5	1943	5	KIAA0020	9	2838437	Missense_Mutation	SNP	T	TCGA-04-1649-01A-01W-0639-09		2838437	138374994	30	1642											
TDRD1	56165	genome.wustl.edu	37	10	115978328	115978328	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr10:115978328C>T	ENST00000369280.1	+	18	2939	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	TDRD1_ENST00000251864.2_Missense_Mutation_p.R827W|TDRD1_ENST00000422662.1_Missense_Mutation_p.R431W|TDRD1_ENST00000369282.1_Missense_Mutation_p.R827W|TDRD1_ENST00000369281.2_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	827					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCAGGGAATACGGTGCCAGTT	0.338																																																0			10											103	96	99					10																	115978328		2203	4300	6503	115968318	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2479C>T	10.37:g.115978328C>T	ENSP00000358286:p.Arg827Trp		115968318	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	C	14.32	2.500204	0.44455	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000422662;ENST00000369280	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.79	4.87	0.63330	Maternal tudor protein (1);	0.614126	0.18240	N	0.147278	T	0.30448	0.0765	M	0.80616	2.505	0.29271	N	0.870644	D;D;D	0.89917	1.0;0.998;0.997	P;P;P	0.59424	0.857;0.828;0.736	T	0.22277	-1.0221	10	0.72032	D	0.01	-1.0842	12.3254	0.55007	0.409:0.591:0.0:0.0	.	431;827;827	Q9BXT4-4;Q9BXT4;Q9BXT4-3	.;TDRD1_HUMAN;.	W	827;827;431;827	ENSP00000358288:R827W;ENSP00000251864:R827W;ENSP00000402794:R431W;ENSP00000358286:R827W	ENSP00000251864:R827W	R	+	1	2	TDRD1	115968318	0.994000	0.37717	0.931000	0.37212	0.118000	0.20060	2.020000	0.41010	1.388000	0.46506	0.561000	0.74099	CGG		0.338	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			T	115978328	C	T	115978328	3	4	33	1	0	0	0	0	1	0	0	0	15730	527	19	1	2545	1	TDRD1	10	115978328	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09		115978328	19556419	31	1643											
KCNA6	3742	genome.wustl.edu	37	12	4920662	4920662	+	Silent	SNP	T	T	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr12:4920662T>A	ENST00000280684.3	+	1	2321	c.1455T>A	c.(1453-1455)ccT>ccA	p.P485P	KCNA6_ENST00000433855.1_Silent_p.P485P|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	485					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GTGGGCAGCCTGCGCCGGACC	0.607										HNSCC(72;0.22)																																						0			12											103	99	100					12																	4920662		2203	4300	6503	4790923	SO:0001819	synonymous_variant	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1455T>A	12.37:g.4920662T>A			4790923		Silent	SNP	ENST00000280684.3	37	CCDS8534.1																																																																																				0.607	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		A	4920662	T	A	4920662	2	1	33	1	0	0	0	0	0	0	0	1	8007	1567	55	5		5	KCNA6	12	4920662	Silent	SNP	T	TCGA-04-1649-01A-01W-0639-09		4920662	128931233	32	1644											
KIAA0528	9847	genome.wustl.edu	37	12	22631295	22631295	+	Silent	SNP	T	T	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr12:22631295T>G	ENST00000333957.4	-	15	2109	c.1854A>C	c.(1852-1854)atA>atC	p.I618I	C2CD5_ENST00000446597.1_Silent_p.I618I|C2CD5_ENST00000542676.1_Silent_p.I618I|C2CD5_ENST00000545552.1_Silent_p.I631I|C2CD5_ENST00000536386.1_Silent_p.I620I|C2CD5_ENST00000396028.2_Silent_p.I609I|C2CD5_ENST00000544930.1_Silent_p.I433I	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	618					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTGTGTCATTTATCTTCTTCT	0.338																																																0			12											157	148	151					12																	22631295		2203	4300	6503	22522562	SO:0001819	synonymous_variant	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1854A>C	12.37:g.22631295T>G			22522562	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	37	CCDS31758.1																																																																																				0.338	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		G	22631295	T	G	22631295	2	3	33	1	0	0	0	0	0	0	0	1	8182	1744	61	5		5	KIAA0528	12	22631295	Silent	SNP	T	TCGA-04-1649-01A-01W-0639-09	17710633	22631295	111220600	33	1645											
IFLTD1	160492	genome.wustl.edu	37	12	25679131	25679131	+	Missense_Mutation	SNP	C	C	T	rs374111917		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr12:25679131C>T	ENST00000282881.6	-	5	786	c.637G>A	c.(637-639)Gca>Aca	p.A213T	IFLTD1_ENST00000539744.1_Missense_Mutation_p.A116T|IFLTD1_ENST00000413632.2_Intron|IFLTD1_ENST00000445693.1_Missense_Mutation_p.A150T|IFLTD1_ENST00000458174.2_Missense_Mutation_p.A234T	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		213	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGATGCTTTGCTTCAGATGCT	0.393																																																0			12											123	111	115					12																	25679131		2203	4300	6503	25570398	SO:0001583	missense	160492																														ENST00000282881.6:c.637G>A	12.37:g.25679131C>T	ENSP00000282881:p.Ala213Thr		25570398	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138857	0.56936	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000545543	D;D;D;D;T	0.98493	-4.96;-4.96;-4.96;-4.96;2.43	5.29	3.47	0.39725	Intermediate filament, C-terminal (1);	.	.	.	.	D	0.96956	0.9006	L	0.46157	1.445	0.18873	N	0.999987	P;P;P	0.49185	0.902;0.902;0.92	B;B;P	0.50860	0.415;0.415;0.652	D	0.92196	0.5764	8	.	.	.	-5.4645	7.8413	0.29400	0.0:0.8143:0.0:0.1857	.	150;234;213	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9	.;.;ILFT1_HUMAN	T	213;116;234;150;43	ENSP00000282881:A213T;ENSP00000443132:A116T;ENSP00000407353:A234T;ENSP00000407043:A150T;ENSP00000443596:A43T	.	A	-	1	0	IFLTD1	25570398	0.439000	0.25610	0.128000	0.21923	0.986000	0.74619	0.908000	0.28545	0.796000	0.33947	0.655000	0.94253	GCA		0.393	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			T	25679131	C	T	25679131	3	4	33	1	0	0	0	0	1	0	0	0	7530	797	28	2	545	2	IFLTD1	12	25679131	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	3047836	25679131	108172764	34	1646											
RIMBP2	23504	genome.wustl.edu	37	12	130926887	130926887	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr12:130926887G>A	ENST00000261655.4	-	8	1122	c.959C>T	c.(958-960)cCg>cTg	p.P320L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P228L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P228L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	320	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGCACCGCCGGGGGCTCCCA	0.557																																																0			12											129	127	128					12																	130926887		2203	4300	6503	129492840	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.959C>T	12.37:g.130926887G>A	ENSP00000261655:p.Pro320Leu		129492840	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324244	0.81580	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.62498	0.02;0.02;0.02	4.28	4.28	0.50868	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.85723	0.1326	10	0.62326	D	0.03	-30.4208	16.708	0.85377	0.0:0.0:1.0:0.0	.	228;320	O15034-2;O15034	.;RIMB2_HUMAN	L	320;228;228;228	ENSP00000261655:P320L;ENSP00000440347:P228L;ENSP00000439159:P228L	ENSP00000261655:P320L	P	-	2	0	RIMBP2	129492840	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	9.811000	0.99226	1.911000	0.55334	0.436000	0.28706	CCG		0.557	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130926887	G	A	130926887	3	1	33	1	0	0	0	0	1	0	0	0	13366	1116	39	1	2247	1	RIMBP2	12	130926887	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	105247756	130926887	2925008	35	1647											
MYO16	23026	genome.wustl.edu	37	13	109318412	109318412	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr13:109318412G>C	ENST00000357550.2	+	1	182	c.141G>C	c.(139-141)agG>agC	p.R47S	MYO16_ENST00000251041.5_Missense_Mutation_p.R47S|MYO16_ENST00000356711.2_Missense_Mutation_p.R47S	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCCTGAAAAGGCTGAAGCATG	0.488																																																0			13											80	71	74					13																	109318412		2203	4300	6503	108116413	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.141G>C	13.37:g.109318412G>C	ENSP00000350160:p.Arg47Ser		108116413		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	6.648	0.488029	0.12641	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.80653	-1.4;-1.4;-1.14	5.37	0.434	0.16539	.	0.218757	0.21502	U	0.073501	T	0.58481	0.2125	N	0.24115	0.695	0.09310	N	1	B;P	0.35433	0.034;0.501	B;B	0.24394	0.053;0.039	T	0.47032	-0.9148	9	.	.	.	.	6.5156	0.22246	0.4288:0.1186:0.4526:0.0	.	47;47	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	S	47	ENSP00000349145:R47S;ENSP00000350160:R47S;ENSP00000251041:R47S	.	R	+	3	2	MYO16	108116413	0.041000	0.20044	0.003000	0.11579	0.096000	0.18686	0.168000	0.16622	-0.016000	0.14127	0.650000	0.86243	AGG		0.488	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		C	109318412	G	C	109318412	3	2	33	1	0	0	0	0	1	0	0	0	10064	1194	42	3	143	3	MYO16	13	109318412	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09		109318412	5851466	36	1648											
STRC	161497	genome.wustl.edu	37	15	43901498	43901498	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr15:43901498G>T	ENST00000450892.2	-	16	3610	c.3533C>A	c.(3532-3534)aCc>aAc	p.T1178N	STRC_ENST00000541030.1_Missense_Mutation_p.T405N	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1178					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGTAAGGTTGGTGGGTACTTG	0.483																																																0			15											151	162	158					15																	43901498		2169	4297	6466	41688790	SO:0001583	missense	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3533C>A	15.37:g.43901498G>T	ENSP00000401513:p.Thr1178Asn		41688790		Missense_Mutation	SNP	ENST00000450892.2	37	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442620	0.43326	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.77098	-1.07;-1.05	4.73	4.73	0.59995	.	0.415098	0.22537	N	0.058771	T	0.71685	0.3369	N	0.24115	0.695	0.35060	D	0.761472	P;P	0.51933	0.949;0.801	P;P	0.50754	0.649;0.507	T	0.75326	-0.3357	10	0.25106	T	0.35	-4.7205	13.2324	0.59951	0.0:0.0:1.0:0.0	.	405;1178	F5GXA4;Q7RTU9	.;STRC_HUMAN	N	1178;1178;405	ENSP00000401513:T1178N;ENSP00000440413:T405N	ENSP00000299992:T1178N	T	-	2	0	STRC	41688790	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.687000	0.54692	2.178000	0.69098	0.556000	0.70494	ACC		0.483	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		T	43901498	G	T	43901498	3	4	33	1	0	0	0	0	1	0	0	0	15330	1261	44	3	1850	3	STRC	15	43901498	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09		43901498	58629894	37	1649											
IREB2	3658	genome.wustl.edu	37	15	78775750	78775750	+	Missense_Mutation	SNP	G	G	A	rs141373267		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr15:78775750G>A	ENST00000258886.8	+	11	1536	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	RP11-650L12.1_ENST00000560094.1_RNA	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	463					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TATGAAAAGCGATTTCCAGGC	0.388													G|||	1	0.000199681	0	0	5008	,	,		15762	0.001		0	False		,,,				2504	0				NSCLC(200;764 2208 35157 49871 50830)											0			15						G	ASN/ASP	0,4392		0,0,2196	161	160	160		1387	5.3	1	15	dbSNP_134	160	1,8585	1.2+/-3.3	0,1,4292	no	missense	IREB2	NM_004136.2	23	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	463/964	78775750	1,12977	2196	4293	6489	76562805	SO:0001583	missense	3658			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1387G>A	15.37:g.78775750G>A	ENSP00000258886:p.Asp463Asn		76562805	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.9	4.349554	0.82132	0.0	1.16E-4	ENSG00000136381	ENST00000258886	T	0.42513	0.97	5.32	5.32	0.75619	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.100036	0.64402	D	0.000001	T	0.52964	0.1767	L	0.47190	1.495	0.80722	D	1	D	0.61080	0.989	P	0.54590	0.756	T	0.50591	-0.8810	10	0.48119	T	0.1	.	19.3676	0.94469	0.0:0.0:1.0:0.0	.	463	P48200	IREB2_HUMAN	N	463	ENSP00000258886:D463N	ENSP00000258886:D463N	D	+	1	0	IREB2	76562805	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.438000	0.97539	2.642000	0.89623	0.655000	0.94253	GAT		0.388	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		A	78775750	G	A	78775750	3	1	33	1	0	0	0	0	1	0	0	0	7826	1058	37	1	1429	1	IREB2	15	78775750	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	34874252	78775750	23755642	38	1650											
VPS33B	26276	genome.wustl.edu	37	15	91551174	91551174	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr15:91551174C>A	ENST00000333371.3	-	7	777	c.424G>T	c.(424-426)Gcc>Tcc	p.A142S	VPS33B_ENST00000535906.1_Missense_Mutation_p.A115S|VPS33B_ENST00000535843.1_Missense_Mutation_p.A51S	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	142					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					AAAGAGAAGGCCCATTCATCA	0.488																																																0			15											130	119	123					15																	91551174		2198	4298	6496	89352178	SO:0001583	missense	26276			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.424G>T	15.37:g.91551174C>A	ENSP00000327650:p.Ala142Ser		89352178	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.140970	0.37825	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.75821	-0.97;-0.97;-0.97	5.54	5.54	0.83059	.	0.314978	0.36167	N	0.002747	T	0.41627	0.1167	N	0.01789	-0.72	0.38202	D	0.940226	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	T	0.50250	-0.8850	10	0.06757	T	0.87	-13.0566	7.2113	0.25935	0.1704:0.747:0.0:0.0826	.	115;142	F5H008;Q9H267	.;VP33B_HUMAN	S	142;115;51;97	ENSP00000327650:A142S;ENSP00000444053:A115S;ENSP00000446267:A51S	ENSP00000327650:A142S	A	-	1	0	VPS33B	89352178	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.829000	0.27449	2.884000	0.98904	0.655000	0.94253	GCC		0.488	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		A	91551174	C	A	91551174	3	1	33	1	0	0	0	0	1	0	0	0	17202	739	26	3	1497	3	VPS33B	15	91551174	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	12775424	91551174	10980218	39	1651											
TP53	7157	genome.wustl.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:7577129A>G	ENST00000269305.4	-	8	998	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.F270S	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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)	ACGCACCTCAAAGCTGTTCCG	0.537		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"	48	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(2)	oesophagus(10)|breast(8)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|ovary(2)|salivary_gland(1)|lung(1)|eye(1)|pancreas(1)	17											57	50	53					17																	7577129		2203	4300	6503	7517854	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.809T>C	17.37:g.7577129A>G	ENSP00000269305:p.Phe270Ser		7517854	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	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262404	0.80358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99815	-6.9;-6.9;-6.9;-6.9;-6.9;-6.9	5.13	5.13	0.70059	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	0.99806	0.9916	M	0.86740	2.835	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.83275	0.996;0.931;0.996;0.996	D	0.96817	0.9601	10	0.87932	D	0	-25.5181	12.9367	0.58319	1.0:0.0:0.0:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	270;270;270;270;270;259;138	ENSP00000352610:F270S;ENSP00000269305:F270S;ENSP00000398846:F270S;ENSP00000391127:F270S;ENSP00000391478:F270S;ENSP00000425104:F138S	ENSP00000269305:F270S	F	-	2	0	TP53	7517854	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.040000	0.76551	2.154000	0.67381	0.379000	0.24179	TTT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577129	A	G	7577129	3	3	33	1	0	0	0	0	1	0	0	0	16381	14	1	4	477	4	TP53	17	7577129	Missense_Mutation	SNP	A	TCGA-04-1649-01A-01W-0639-09		7577129	73618081	40	1652											
DNAH9	1770	genome.wustl.edu	37	17	11648368	11648368	+	Silent	SNP	G	G	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:11648368G>T	ENST00000262442.4	+	31	6434	c.6366G>T	c.(6364-6366)ctG>ctT	p.L2122L	DNAH9_ENST00000454412.2_Silent_p.L2122L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2122	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TAGTGGATCTGAAGCTCCAGG	0.512																																																0			17											118	121	120					17																	11648368		2203	4300	6503	11589093	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6366G>T	17.37:g.11648368G>T			11589093	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11648368	G	T	11648368	2	4	33	1	0	0	0	0	0	0	0	1	4608	1277	45	3		3	DNAH9	17	11648368	Silent	SNP	G	TCGA-04-1649-01A-01W-0639-09	4071239	11648368	69546842	41	1653											
SLC6A4	6532	genome.wustl.edu	37	17	28544321	28544321	+	Splice_Site	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:28544321G>A	ENST00000401766.2	-	5	1212	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	SLC6A4_ENST00000261707.3_Splice_Site_p.R234C			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	234					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AGGACGTGGCGCCTGGGGTGA	0.592																																																0			17											53	55	54					17																	28544321		2203	4300	6503	25568447	SO:0001630	splice_region_variant	6532			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.699-1C>T	17.37:g.28544321G>A			25568447	Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972157	0.92919	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.77877	-1.13;-1.13	5.7	5.7	0.88788	.	0.045975	0.85682	D	0.000000	D	0.91808	0.7408	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93539	0.6876	10	0.87932	D	0	.	18.8226	0.92103	0.0:0.0:1.0:0.0	.	234	P31645	SC6A4_HUMAN	C	276;234;234	ENSP00000385822:R234C;ENSP00000261707:R234C	ENSP00000261707:R234C	R	-	1	0	SLC6A4	25568447	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	4.457000	0.60088	2.696000	0.92011	0.561000	0.74099	CGC		0.592	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045	Missense_Mutation	A	28544321	G	A	28544321	5	1	33	1	0	0	0	0	0	0	1	0	14689	1101	38	1	1232	1	SLC6A4	17	28544321	Splice_Site	SNP	G	TCGA-04-1649-01A-01W-0639-09	16895953	28544321	52650889	42	1654											
MED24	9862	genome.wustl.edu	37	17	38186112	38186112	+	Splice_Site	SNP	G	G	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:38186112G>T	ENST00000394128.2	-	13	1236	c.1155C>A	c.(1153-1155)cgC>cgA	p.R385R	MED24_ENST00000501516.3_Splice_Site_p.R404R|MED24_ENST00000356271.3_Splice_Site_p.R372R|MED24_ENST00000394126.1_Splice_Site_p.R410R|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Splice_Site_p.R372R	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	385					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGTCCGCTTTGCTGTGGACAT	0.562																																																0			17											195	145	162					17																	38186112		2203	4300	6503	35439638	SO:0001630	splice_region_variant	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1155-1C>A	17.37:g.38186112G>T			35439638	A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	CCDS11359.1																																																																																				0.562	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	Silent	T	38186112	G	T	38186112	5	4	33	1	0	0	0	0	0	0	1	0	9442	1333	46	3	1870	3	MED24	17	38186112	Splice_Site	SNP	G	TCGA-04-1649-01A-01W-0639-09	9641791	38186112	43009098	43	1655											
CSH2	1443	genome.wustl.edu	37	17	61949665	61949665	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:61949665G>A	ENST00000392886.2	-	5	626	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	CSH2_ENST00000560142.1_Missense_Mutation_p.R102C|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R64C	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	159						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CCAGTCCGGCGGCTGCCGTCT	0.547																																																0			17											73	76	75					17																	61949665		2203	4297	6500	59303397	SO:0001583	missense	1443			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.475C>T	17.37:g.61949665G>A	ENSP00000376623:p.Arg159Cys		59303397	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	7.317	0.616164	0.14129	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.89196	-2.48;-2.37	3.97	2.9	0.33743	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.988395	0.08248	N	0.975119	T	0.80259	0.4590	N	0.14661	0.345	0.23411	N	0.997731	P;P;P	0.43431	0.807;0.807;0.515	B;B;B	0.41088	0.347;0.347;0.027	T	0.71974	-0.4430	10	0.72032	D	0.01	.	7.045	0.25040	0.2288:0.0:0.7712:0.0	.	159;159;64	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	C	64;159	ENSP00000308396:R64C;ENSP00000376623:R159C	ENSP00000308396:R64C	R	-	1	0	CSH2	59303397	0.884000	0.30299	0.997000	0.53966	0.008000	0.06430	1.154000	0.31688	2.033000	0.60031	0.462000	0.41574	CGC		0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		A	61949665	G	A	61949665	3	1	33	1	0	0	0	0	1	0	0	0	3941	1116	39	1	182	1	CSH2	17	61949665	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	23763553	61949665	19245545	44	1656											
RPTOR	57521	genome.wustl.edu	37	17	78936735	78936735	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:78936735G>A	ENST00000306801.3	+	33	4179	c.3817G>A	c.(3817-3819)Gtc>Atc	p.V1273I	RPTOR_ENST00000544334.2_Missense_Mutation_p.V1115I|RPTOR_ENST00000575542.1_3'UTR|CTD-2561B21.3_ENST00000571591.1_RNA	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1273					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CAGTGGCTCCGTCAATCAGTT	0.602																																																0			17											80	62	68					17																	78936735		2203	4300	6503	76551330	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3817G>A	17.37:g.78936735G>A	ENSP00000307272:p.Val1273Ile		76551330	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	9.362	1.068285	0.20067	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.28666	1.6;1.6	4.81	-0.25	0.13007	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.123459	0.64402	D	0.000001	T	0.18551	0.0445	L	0.40543	1.245	0.80722	D	1	B;B	0.16603	0.009;0.018	B;B	0.11329	0.006;0.004	T	0.06338	-1.0832	10	0.27082	T	0.32	.	4.7338	0.12977	0.5775:0.1519:0.2706:0.0	.	1115;1273	F5H7J5;Q8N122	.;RPTOR_HUMAN	I	1273;1115	ENSP00000307272:V1273I;ENSP00000442479:V1115I	ENSP00000307272:V1273I	V	+	1	0	RPTOR	76551330	1.000000	0.71417	0.993000	0.49108	0.296000	0.27459	4.484000	0.60271	-0.022000	0.13986	0.655000	0.94253	GTC		0.602	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		A	78936735	G	A	78936735	3	1	33	1	0	0	0	0	1	0	0	0	13668	1145	40	1	3947	1	RPTOR	17	78936735	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	16987070	78936735	2258475	45	1657											
DCC	1630	genome.wustl.edu	37	18	50278720	50278720	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:50278720C>T	ENST00000442544.2	+	2	1004	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	130	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATTATTAGTCGGACAGCAAA	0.423																																																0			18											112	104	107					18																	50278720		2203	4300	6503	48532718	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.388C>T	18.37:g.50278720C>T	ENSP00000389140:p.Arg130Trp		48532718		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973749	0.34848	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.13657	2.57	5.06	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.48926	0.1527	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63963	-0.6518	10	0.87932	D	0	.	12.4109	0.55466	0.2862:0.7138:0.0:0.0	.	130	P43146	DCC_HUMAN	W	130;63	ENSP00000389140:R130W	ENSP00000304146:R63W	R	+	1	2	DCC	48532718	0.872000	0.30054	0.999000	0.59377	0.960000	0.62799	1.323000	0.33701	2.354000	0.79902	0.655000	0.94253	CGG		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		T	50278720	C	T	50278720	3	4	33	1	0	0	0	0	1	0	0	0	4282	875	31	1	394	1	DCC	18	50278720	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09		50278720	27798528	46	1658											
SERPINB3	6317	genome.wustl.edu	37	18	61325751	61325751	+	Silent	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:61325751C>A	ENST00000283752.5	-	5	608	c.465G>T	c.(463-465)acG>acT	p.T155T	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.T155T	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	155					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.T155T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCCTACCATTCGTTTGACTTT	0.448																																																1	Substitution - coding silent(1)	skin(1)	18											105	93	97					18																	61325751		2203	4298	6501	59476731	SO:0001819	synonymous_variant	6317			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.465G>T	18.37:g.61325751C>A			59476731	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	ENST00000283752.5	37	CCDS11987.1																																																																																				0.448	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		A	61325751	C	A	61325751	2	1	33	1	0	0	0	0	0	0	0	1	14105	871	31	3		3	SERPINB3	18	61325751	Silent	SNP	C	TCGA-04-1649-01A-01W-0639-09	11047031	61325751	16751497	47	1659											
NETO1	81832	genome.wustl.edu	37	18	70417825	70417825	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:70417825A>C	ENST00000327305.6	-	9	1670	c.1013T>G	c.(1012-1014)cTg>cGg	p.L338R	NETO1_ENST00000299430.2_Missense_Mutation_p.L337R|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.L338R	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	338					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGTGTTGGTCAGCTGGTCCAG	0.443																																																0			18											63	46	52					18																	70417825		2203	4300	6503	68568805	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1013T>G	18.37:g.70417825A>C	ENSP00000313088:p.Leu338Arg		68568805	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287547	0.80803	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.25414	1.8;1.8	5.17	5.17	0.71159	.	0.000000	0.49305	D	0.000141	T	0.47451	0.1446	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.985	D;D	0.74674	0.984;0.923	T	0.48670	-0.9015	10	0.87932	D	0	-14.7266	15.3049	0.73985	1.0:0.0:0.0:0.0	.	337;338	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	R	338;337	ENSP00000313088:L338R;ENSP00000299430:L337R	ENSP00000299430:L337R	L	-	2	0	NETO1	68568805	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.283000	0.95860	2.069000	0.61940	0.374000	0.22700	CTG		0.443	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		C	70417825	A	C	70417825	3	2	33	1	0	0	0	0	1	0	0	0	10339	188	7	5	596	5	NETO1	18	70417825	Missense_Mutation	SNP	A	TCGA-04-1649-01A-01W-0639-09	9092074	70417825	7659423	48	1660											
NETO1	81832	genome.wustl.edu	37	18	70451073	70451073	+	Silent	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:70451073C>A	ENST00000327305.6	-	7	1365	c.708G>T	c.(706-708)gtG>gtT	p.V236V	NETO1_ENST00000299430.2_Silent_p.V235V|NETO1_ENST00000583169.1_Silent_p.V236V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	236	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTCCATCATACACAGCCACAA	0.398																																																0			18											137	126	130					18																	70451073		2203	4300	6503	68602053	SO:0001819	synonymous_variant	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.708G>T	18.37:g.70451073C>A			68602053	Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	CCDS12000.1																																																																																				0.398	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		A	70451073	C	A	70451073	2	1	33	1	0	0	0	0	0	0	0	1	10339	465	17	3		3	NETO1	18	70451073	Silent	SNP	C	TCGA-04-1649-01A-01W-0639-09	33248	70451073	7626175	49	1661											
SALL3	27164	genome.wustl.edu	37	18	76757273	76757273	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:76757273G>A	ENST00000537592.2	+	3	3854	c.3854G>A	c.(3853-3855)cGc>cAc	p.R1285H	SALL3_ENST00000536229.3_Missense_Mutation_p.R1080H|SALL3_ENST00000575389.2_Missense_Mutation_p.R1213H	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1285					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1285H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAGCCAGCCGCCCATTCACG	0.572																																																1	Substitution - Missense(1)	large_intestine(1)	18											128	130	130					18																	76757273		2203	4300	6503	74858261	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3854G>A	18.37:g.76757273G>A	ENSP00000441823:p.Arg1285His		74858261	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157041	0.21454	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.41400	1.0	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000035	T	0.23886	0.0578	N	0.03238	-0.38	0.51012	D	0.999904	B;B	0.31054	0.037;0.306	B;B	0.25291	0.007;0.059	T	0.10154	-1.0642	10	0.37606	T	0.19	-58.0545	19.4741	0.94979	0.0:0.0:1.0:0.0	.	945;1285	F5GXY4;Q9BXA9	.;SALL3_HUMAN	H	1285;1213;945	ENSP00000441823:R1285H	ENSP00000299466:R1285H	R	+	2	0	SALL3	74858261	1.000000	0.71417	0.992000	0.48379	0.369000	0.29798	5.659000	0.68010	2.595000	0.87683	0.655000	0.94253	CGC		0.572	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		A	76757273	G	A	76757273	3	1	33	1	0	0	0	0	1	0	0	0	13815	1087	38	1	3864	1	SALL3	18	76757273	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	6306200	76757273	1319975	50	1662											
ZNF653	115950	genome.wustl.edu	37	19	11598600	11598600	+	Silent	SNP	C	C	T	rs184960221	byFrequency	TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr19:11598600C>T	ENST00000293771.5	-	4	814	c.678G>A	c.(676-678)acG>acA	p.T226T	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GGCTGGTGGGCGTCGCTGCCG	0.672													C|||	240	0.0479233	0.0393	0.0994	5008	,	,		9045	0.0397		0.0408	False		,,,				2504	0.0389				Pancreas(83;980 1446 4542 6441 43352)											0			19											25	24	24					19																	11598600		2175	4227	6402	11459600	SO:0001819	synonymous_variant	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.678G>A	19.37:g.11598600C>T			11459600	Q96AS7	Silent	SNP	ENST00000293771.5	37	CCDS12261.1																																																																																				0.672	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		T	11598600	C	T	11598600	2	4	33	1	0	0	0	0	0	0	0	1	18066	755	27	1		1	ZNF653	19	11598600	Silent	SNP	C	TCGA-04-1649-01A-01W-0639-09		11598600	47530383	51	1663											
TSSK6	51079	genome.wustl.edu	37	19	19626179	19626179	+	5'Flank	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr19:19626179C>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000252576.5_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.E20K|NDUFA13_ENST00000503283.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.E20K|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.E20Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TAGCTGCCCTCTCCAATTGTG	0.632																																																1	Substitution - Missense(1)	lung(1)	19											78	77	77					19																	19626179		2203	4300	6503	19487179	SO:0001631	upstream_gene_variant	83983			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626179C>T	Exception_encountered		19487179	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470642	0.43942	.	.	ENSG00000178093	ENST00000360913	T	0.65916	-0.18	5.02	5.02	0.67125	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	0.40222	U	0.001147	T	0.35595	0.0937	N	0.04090	-0.28	0.42015	D	0.990955	B	0.22414	0.069	B	0.22152	0.038	T	0.35251	-0.9796	10	0.02654	T	1	.	13.8868	0.63712	0.0:1.0:0.0:0.0	.	20	Q9BXA6	TSSK6_HUMAN	K	20	ENSP00000354168:E20K	ENSP00000354168:E20K	E	-	1	0	TSSK6	19487179	0.998000	0.40836	0.994000	0.49952	0.979000	0.70002	3.785000	0.55424	2.353000	0.79882	0.485000	0.47835	GAG		0.632	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		T	19626179	C	T	19626179	1	4	33	0	1	0	0	0	0	0	0	0	16672	922	32	2		2	TSSK6	19	19626179	5'Flank	SNP	C	TCGA-04-1649-01A-01W-0639-09	8027579	19626179	39502804	52	1664											
KRTDAP	388533	genome.wustl.edu	37	19	35981337	35981337	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr19:35981337A>T	ENST00000338897.3	-	1	96	c.8T>A	c.(7-9)aTc>aAc	p.I3N	KRTDAP_ENST00000479340.1_Intron|KRTDAP_ENST00000484218.2_Missense_Mutation_p.I3N	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	3					cell differentiation (GO:0030154)	extracellular region (GO:0005576)				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGACCGGGATCTTCATGGC	0.607																																																0			19											139	108	119					19																	35981337		2203	4300	6503	40673177	SO:0001583	missense	388533			AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.8T>A	19.37:g.35981337A>T	ENSP00000339251:p.Ile3Asn		40673177	A1L4D7	Missense_Mutation	SNP	ENST00000338897.3	37	CCDS12462.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806715	0.50421	.	.	ENSG00000188508	ENST00000338897	.	.	.	4.92	4.92	0.64577	.	0.329181	0.26542	N	0.023791	T	0.54078	0.1836	.	.	.	0.29599	N	0.847797	P	0.47191	0.891	P	0.51355	0.667	T	0.58691	-0.7592	8	0.87932	D	0	-25.926	10.8582	0.46810	1.0:0.0:0.0:0.0	.	3	P60985	KTDAP_HUMAN	N	3	.	ENSP00000339251:I3N	I	-	2	0	KRTDAP	40673177	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	3.945000	0.56637	2.073000	0.62155	0.379000	0.24179	ATC		0.607	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340164.1			T	35981337	A	T	35981337	3	4	33	1	0	0	0	0	1	0	0	0	8580	333	12	5	315	5	KRTDAP	19	35981337	Missense_Mutation	SNP	A	TCGA-04-1649-01A-01W-0639-09	16355158	35981337	23147646	53	1665											
DSCAM	1826	genome.wustl.edu	37	21	41457639	41457639	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr21:41457639T>C	ENST00000400454.1	-	23	4499	c.4022A>G	c.(4021-4023)aAc>aGc	p.N1341S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1341	Ig-like C2-type 10.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAAGCTTCCGTTGCTAAAGAT	0.423																																					Melanoma(134;970 1778 1785 21664 32388)											0			21											96	91	93					21																	41457639		1893	4134	6027	40379509	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4022A>G	21.37:g.41457639T>C	ENSP00000383303:p.Asn1341Ser		40379509	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690315	0.88735	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.27402	1.67;1.67	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	N	0.12746	0.255	0.53005	D	0.99996	D	0.69078	0.997	D	0.69654	0.965	T	0.31696	-0.9934	10	0.38643	T	0.18	.	15.4502	0.75268	0.0:0.0:0.0:1.0	.	1341	O60469	DSCAM_HUMAN	S	1341;1093	ENSP00000383303:N1341S;ENSP00000385342:N1093S	ENSP00000383303:N1341S	N	-	2	0	DSCAM	40379509	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.850000	0.86915	2.041000	0.60428	0.533000	0.62120	AAC		0.423	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		C	41457639	T	C	41457639	3	2	33	1	0	0	0	0	1	0	0	0	4768	1725	60	4	2060	4	DSCAM	21	41457639	Missense_Mutation	SNP	T	TCGA-04-1649-01A-01W-0639-09		41457639	6672256	54	1666											
ZNF280B	140883	genome.wustl.edu	37	22	22843283	22843283	+	Silent	SNP	T	T	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr22:22843283T>C	ENST00000406426.1	-	4	1183	c.441A>G	c.(439-441)acA>acG	p.T147T	ZNF280B_ENST00000360412.2_Silent_p.T147T			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AATCTGTGAATGTAATCAAAG	0.358																																																0			22											163	161	162					22																	22843283		2203	4300	6503	21173283	SO:0001819	synonymous_variant	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.441A>G	22.37:g.22843283T>C			21173283		Silent	SNP	ENST00000406426.1	37	CCDS13799.1																																																																																				0.358	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		C	22843283	T	C	22843283	2	2	33	1	0	0	0	0	0	0	0	1	17815	1451	51	4		4	ZNF280B	22	22843283	Silent	SNP	T	TCGA-04-1649-01A-01W-0639-09		22843283	28461283	55	1667											
GGA1	26088	genome.wustl.edu	37	22	38020994	38020994	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr22:38020994A>G	ENST00000343632.4	+	10	1237	c.851A>G	c.(850-852)aAt>aGt	p.N284S	GGA1_ENST00000337437.4_Missense_Mutation_p.N251S|GGA1_ENST00000406772.1_Missense_Mutation_p.N211S|GGA1_ENST00000381756.5_Missense_Mutation_p.N301S|GGA1_ENST00000325180.8_Intron	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	284	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CTGCAGGCCAATGACAACCTC	0.637																																																0			22											63	45	51					22																	38020994		2202	4299	6501	36350940	SO:0001583	missense	26088			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.851A>G	22.37:g.38020994A>G	ENSP00000341344:p.Asn284Ser		36350940	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070155	0.55539	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000337437;ENST00000406772	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.0	5.0	0.66597	GAT (2);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	L	0.45228	1.405	0.80722	D	1	D;P	0.89917	1.0;0.725	D;P	0.91635	0.999;0.68	T	0.68746	-0.5327	10	0.29301	T	0.29	-20.7756	14.6785	0.68998	1.0:0.0:0.0:0.0	.	301;284	Q6IC75;Q9UJY5	.;GGA1_HUMAN	S	284;301;251;211	ENSP00000341344:N284S;ENSP00000371175:N301S;ENSP00000338647:N251S;ENSP00000385287:N211S	ENSP00000338647:N251S	N	+	2	0	GGA1	36350940	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.213000	0.65230	1.882000	0.54519	0.397000	0.26171	AAT		0.637	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		G	38020994	A	G	38020994	3	3	33	1	0	0	0	0	1	0	0	0	6352	101	4	4	955	4	GGA1	22	38020994	Missense_Mutation	SNP	A	TCGA-04-1649-01A-01W-0639-09	15177711	38020994	13283572	56	1668											
CYP2D6	1565	genome.wustl.edu	37	22	42524802	42524802	+	Missense_Mutation	SNP	G	G	A	rs201501394		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr22:42524802G>A	ENST00000360608.5	-	4	764	c.650C>T	c.(649-651)tCg>tTg	p.S217L	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.S217L|CYP2D6_ENST00000359033.4_Missense_Mutation_p.S166L	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	217					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CAGAAAGCCCGACTCCTCCTT	0.672																																																0			22						G	LEU/SER,LEU/SER	0,4400		0,0,2200	33	27	29		650,497	2.3	0	22		29	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	CYP2D6	NM_000106.4,NM_001025161.1	145,145	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	217/498,166/447	42524802	1,12997	2200	4299	6499	40854746	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.650C>T	22.37:g.42524802G>A	ENSP00000353820:p.Ser217Leu		40854746	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	g	12.25	1.882118	0.33255	0.0	1.16E-4	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.70631	-0.5;-0.5;-0.5	3.37	2.35	0.29111	.	0.809840	0.11004	N	0.610193	T	0.65481	0.2695	M	0.62088	1.915	0.09310	N	1	B;B	0.19331	0.006;0.035	B;B	0.22753	0.015;0.041	T	0.58983	-0.7539	10	0.56958	D	0.05	.	6.5228	0.22285	0.1349:0.0:0.8651:0.0	.	166;217	Q6NXU8;Q6NWU0	.;.	L	217;217;163;166;166	ENSP00000353820:S217L;ENSP00000374620:S217L;ENSP00000351927:S166L	ENSP00000351927:S166L	S	-	2	0	CYP2D6	40854746	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.028000	0.13644	0.990000	0.38787	0.305000	0.20034	TCG		0.672	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			A	42524802	G	A	42524802	3	1	33	1	0	0	0	0	1	0	0	0	4169	1059	37	1	867	1	CYP2D6	22	42524802	Missense_Mutation	SNP	G	TCGA-04-1649-01A-01W-0639-09	4503808	42524802	8779764	57	1669											
GRAMD4	23151	genome.wustl.edu	37	22	47064589	47064589	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr22:47064589C>T	ENST00000406902.1	+	12	1147	c.934C>T	c.(934-936)Ctt>Ttt	p.L312F	GRAMD4_ENST00000361034.3_Missense_Mutation_p.L312F			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	312					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CACACAGAACCTTTTCGGGAA	0.652																																																0			22											109	125	120					22																	47064589		2203	4300	6503	45443253	SO:0001583	missense	23151				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.934C>T	22.37:g.47064589C>T	ENSP00000385689:p.Leu312Phe		45443253	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	CCDS33672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.80|17.80	3.478187|3.478187	0.63849|0.63849	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.49139|.	0.79;0.79|.	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	0.082384|.	0.48767|.	D|.	0.000167|.	T|T	0.61476|0.61476	0.2350|0.2350	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.57571|.	0.98;0.975|.	P;P|.	0.57152|.	0.814;0.736|.	T|T	0.59456|0.59456	-0.7451|-0.7451	10|5	0.45353|.	T|.	0.12|.	-25.8659|-25.8659	14.9413|14.9413	0.70994|0.70994	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	134;312|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	F|L	312|134	ENSP00000385689:L312F;ENSP00000354313:L312F|.	ENSP00000354313:L312F|.	L|P	+|+	1|2	0|0	GRAMD4|GRAMD4	45443253|45443253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.528000|0.528000	0.34623|0.34623	2.552000|2.552000	0.45828|0.45828	2.182000|2.182000	0.69389|0.69389	0.555000|0.555000	0.69702|0.69702	CTT|CCT		0.652	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		T	47064589	C	T	47064589	3	4	33	1	0	0	0	0	1	0	0	0	6752	681	24	2	976	2	GRAMD4	22	47064589	Missense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	4539787	47064589	4239977	58	1670											
MAGED1	9500	genome.wustl.edu	37	X	51637766	51637766	+	Intron	SNP	C	C	A	rs372507787		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chrX:51637766C>A	ENST00000375722.1	+	2	297				MAGED1_ENST00000375695.2_Missense_Mutation_p.P30H|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000494718.1_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTCCCCCAGCCTCCTGCCTCC	0.577										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											44	40	41					X																	51637766		2203	4300	6503	51654506	SO:0001627	intron_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.45+321C>A	X.37:g.51637766C>A		978	51654506	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353134	0.24512	.	.	ENSG00000179222	ENST00000375695	T	0.04083	3.71	3.45	1.53	0.23141	.	.	.	.	.	T	0.07369	0.0186	.	.	.	0.09310	N	1	B	0.25955	0.138	B	0.40329	0.326	T	0.43956	-0.9359	8	0.87932	D	0	.	4.7962	0.13274	0.0:0.6453:0.2172:0.1375	.	30	Q9Y5V3-2	.	H	30	ENSP00000364847:P30H	ENSP00000364847:P30H	P	+	2	0	MAGED1	51654506	0.004000	0.15560	0.038000	0.18304	0.263000	0.26337	1.392000	0.34486	0.111000	0.17947	0.425000	0.28330	CCT		0.577	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		A	51637766	C	A	51637766	1	1	33	0	1	0	0	0	0	0	0	0	9183	681	24	3		3	MAGED1	23	51637766	Intron	SNP	C	TCGA-04-1649-01A-01W-0639-09		51637766	103632794	59	1671											
CXCR3	2833	genome.wustl.edu	37	X	70836445	70836445	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chrX:70836445C>A	ENST00000373693.3	-	2	944	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	CXCR3_ENST00000373691.4_Nonsense_Mutation_p.E340*	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	293					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					ACCCTGCTTTCTCGGCCACAG	0.622																																																0			X											72	53	60					X																	70836445		2203	4300	6503	70753170	SO:0001587	stop_gained	2833			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.877G>T	X.37:g.70836445C>A	ENSP00000362797:p.Glu293*		70753170	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Nonsense_Mutation	SNP	ENST00000373693.3	37	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123133	0.37436	.	.	ENSG00000186810	ENST00000373691;ENST00000373693	.	.	.	5.21	4.33	0.51752	.	0.537109	0.19642	N	0.109440	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	12.2986	0.54862	0.0:0.8326:0.1674:0.0	.	.	.	.	X	340;293	.	ENSP00000362795:E340X	E	-	1	0	CXCR3	70753170	0.001000	0.12720	0.198000	0.23420	0.000000	0.00434	0.781000	0.26774	1.157000	0.42530	-0.337000	0.08149	GAA		0.622	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			A	70836445	C	A	70836445	4	1	33	1	0	0	0	0	0	1	0	0	4092	922	32	3	233	3	CXCR3	23	70836445	Nonsense_Mutation	SNP	C	TCGA-04-1649-01A-01W-0639-09	19198679	70836445	84434115	60	1672											
BRS3	680	genome.wustl.edu	37	X	135572553	135572565	+	Frame_Shift_Del	DEL	TATCTCTGTCTAC	TATCTCTGTCTAC	-			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	TATCTCTGTCTAC	TATCTCTGTCTAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chrX:135572553_135572565delTATCTCTGTCTAC	ENST00000370648.3	+	2	924_936	c.696_708delTATCTCTGTCTAC	c.(694-708)attatctctgtctacfs	p.IISVY232fs		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	232					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CACTCTCTATTATCTCTGTCTACTATTCCTTGA	0.394																																																0			X																																								135400231	SO:0001589	frameshift_variant	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.696_708delTATCTCTGTCTAC	X.37:g.135572553_135572565delTATCTCTGTCTAC	ENSP00000359682:p.Ile232fs		135400219		Frame_Shift_Del	DEL	ENST00000370648.3	37	CCDS14656.1																																																																																				0.394	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		-	135572565	TATCTCTGTCTAC	-	135572553	7	5	33	1	0	1	0	1	0	0	0	0	1522	1742	61	0	702	0	BRS3	23	135572553	Frame_Shift_Del	DEL	TATCTCTGTCTAC	TCGA-04-1649-01A-01W-0639-09	64736108	135572553	19698007	61	1673											
PINK1	65018	genome.wustl.edu	37	1	20971140	20971140	+	Silent	SNP	C	C	A	rs536146282		TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr1:20971140C>A	ENST00000321556.4	+	4	1028	c.934C>A	c.(934-936)Cgg>Agg	p.R312R	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGCCATGGCCGGACGCTGTT	0.647																																					Esophageal Squamous(145;853 1803 8146 34412 35011)											0			1											63	58	60					1																	20971140		2203	4300	6503	20843727	SO:0001819	synonymous_variant	65018			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.934C>A	1.37:g.20971140C>A			20843727	Q8N6T9|Q8NBU3|Q96DE4	Silent	SNP	ENST00000321556.4	37	CCDS211.1																																																																																				0.647	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		A	20971140	C	A	20971140	2	1	34	1	0	0	0	0	0	0	0	1	11932	643	23	3		3	PINK1	1	20971140	Silent	SNP	C	TCGA-04-1651-01A-01W-0639-09		20971140	228279481	1	1674											
CD1C	911	genome.wustl.edu	37	1	158263248	158263248	+	Silent	SNP	A	A	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr1:158263248A>C	ENST00000368170.3	+	6	1263	c.984A>C	c.(982-984)tcA>tcC	p.S328S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	328				CSYQDIL -> W (in Ref. 1; AAA51942). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TTCACAGCTCATATCAGGACA	0.478																																																0			1											139	124	129					1																	158263248		2203	4300	6503	156529872	SO:0001819	synonymous_variant	911			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.984A>C	1.37:g.158263248A>C			156529872	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	A	2.927	-0.222007	0.06061	.	.	ENSG00000158481	ENST00000368169	.	.	.	2.94	-5.88	0.02290	.	.	.	.	.	T	0.07818	0.0196	.	.	.	0.09310	N	0.999996	B	0.15719	0.014	B	0.18871	0.023	T	0.08249	-1.0731	7	0.46703	T	0.11	.	1.5756	0.02624	0.1379:0.3541:0.1803:0.3276	.	298	E9PGC9	.	P	298	.	ENSP00000357151:H298P	H	+	2	0	CD1C	156529872	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.924000	0.03996	-3.348000	0.00182	-1.310000	0.01310	CAT		0.478	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		C	158263248	A	C	158263248	2	2	34	1	0	0	0	0	0	0	0	1	2976	204	8	5		5	CD1C	1	158263248	Silent	SNP	A	TCGA-04-1651-01A-01W-0639-09	137292108	158263248	90987373	2	1675											
SERPINC1	462	genome.wustl.edu	37	1	173873124	173873124	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr1:173873124G>C	ENST00000367698.3	-	7	1416	c.1298C>G	c.(1297-1299)aCt>aGt	p.T433S		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	433					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GGCCTTGAAAGTCACCCTGTT	0.458																																																0			1											82	81	81					1																	173873124		2203	4300	6503	172139747	SO:0001583	missense	462			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1298C>G	1.37:g.173873124G>C	ENSP00000356671:p.Thr433Ser		172139747	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301085	0.23650	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.84070	-1.8	5.74	3.89	0.44902	Serpin domain (3);	0.412612	0.28815	N	0.014057	T	0.49423	0.1556	L	0.28192	0.835	0.33371	D	0.573568	B	0.02656	0.0	B	0.04013	0.001	T	0.15178	-1.0446	10	0.09084	T	0.74	.	8.98	0.35959	0.2751:0.0:0.7249:0.0	.	433	P01008	ANT3_HUMAN	S	433;228	ENSP00000356671:T433S	ENSP00000307953:T228S	T	-	2	0	SERPINC1	172139747	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.464000	0.35288	0.786000	0.33708	0.650000	0.86243	ACT		0.458	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		C	173873124	G	C	173873124	3	2	34	1	0	0	0	0	1	0	0	0	14112	1029	36	3	100	3	SERPINC1	1	173873124	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	15609876	173873124	75377497	3	1676											
FAM58B	339521	genome.wustl.edu	37	1	200182704	200182727	+	IGR	DEL	GAGGACGCCGGAGAGGAGGCCGGA	GAGGACGCCGGAGAGGAGGCCGGA	-	rs550334629|rs565394962|rs141962771|rs61826220|rs386638409|rs535415213|rs372169225|rs76632737|rs369891064|rs369919899	byFrequency	TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	GAGGACGCCGGAGAGGAGGCCGGA	GAGGACGCCGGAGAGGAGGCCGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr1:200182704_200182727delGAGGACGCCGGAGAGGAGGCCGGA								NR5A2 (36152 upstream) : RP11-532L16.3 (101835 downstream)																							GGAAGGCATGgaggacgccggagaggaggccggagaggacgccg	0.665														664	0.132588	0.205	0.111	5008	,	,		16484	0.0595		0.0497	False		,,,				2504	0.2106															0			1								2024,2136		516,992,572						-2	0		dbSNP_134	15	2214,5898		306,1602,2148	no	coding	FAM58BP	NM_001105517.1		822,2594,2720	A1A1,A1R,RR		27.2929,48.6538,34.5339				4238,8034				198449350	SO:0001628	intergenic_variant	339521																															1.37:g.200182704_200182727delGAGGACGCCGGAGAGGAGGCCGGA			198449327		In_Frame_Del	DEL		37																																																																																				0	0.665									-	200182727	GAGGACGCCGGAGAGGAGGCCGGA	-	200182704	6	5	34	0	1	1	0	1	0	0	0	0	5591	1175	41	0		0	FAM58B	1	200182704	IGR	DEL	GAGGACGCCGGAGAGGAGGCCGGA	TCGA-04-1651-01A-01W-0639-09	26309580	200182704	49067917	4	1677											
LRRN2	10446	genome.wustl.edu	37	1	204587842	204587842	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr1:204587842G>C	ENST00000367175.1	-	1	3491	c.1279C>G	c.(1279-1281)Cga>Gga	p.R427G	LRRN2_ENST00000367177.3_Missense_Mutation_p.R427G|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Missense_Mutation_p.R427G			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	427	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGAAGCTTCGTGGGGAGATG	0.652																																																0			1											35	32	33					1																	204587842		2203	4300	6503	202854465	SO:0001583	missense	10446			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1279C>G	1.37:g.204587842G>C	ENSP00000356143:p.Arg427Gly		202854465	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	9.244	1.039007	0.19669	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.60548	0.18;0.18;0.18	5.37	5.37	0.77165	Immunoglobulin-like (1);	0.000000	0.41396	D	0.000894	T	0.46983	0.1421	L	0.39245	1.2	0.36751	D	0.882747	B	0.14012	0.009	B	0.15484	0.013	T	0.50346	-0.8839	10	0.37606	T	0.19	.	10.3305	0.43820	0.0:0.1454:0.7042:0.1503	.	427	O75325	LRRN2_HUMAN	G	427	ENSP00000356144:R427G;ENSP00000356145:R427G;ENSP00000356143:R427G	ENSP00000356143:R427G	R	-	1	2	LRRN2	202854465	0.004000	0.15560	0.996000	0.52242	0.930000	0.56654	1.260000	0.32968	2.518000	0.84900	0.467000	0.42956	CGA		0.652	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		C	204587842	G	C	204587842	3	2	34	1	0	0	0	0	1	0	0	0	9035	1153	40	3	866	3	LRRN2	1	204587842	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	4405138	204587842	44662779	5	1678											
HEATR1	55127	genome.wustl.edu	37	1	236718741	236718741	+	Silent	SNP	T	T	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr1:236718741T>C	ENST00000366582.3	-	41	5892	c.5778A>G	c.(5776-5778)gaA>gaG	p.E1926E	HEATR1_ENST00000366581.2_Silent_p.E1845E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1926					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGGGGCATCTTCTGTTTTAG	0.413																																																0			1											94	92	93					1																	236718741		2203	4300	6503	234785364	SO:0001819	synonymous_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5778A>G	1.37:g.236718741T>C			234785364	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	CCDS31066.1																																																																																				0.413	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		C	236718741	T	C	236718741	2	2	34	1	0	0	0	0	0	0	0	1	7027	1606	56	4		4	HEATR1	1	236718741	Silent	SNP	T	TCGA-04-1651-01A-01W-0639-09	32130899	236718741	12531880	6	1679											
PLEK	5341	genome.wustl.edu	37	2	68607905	68607905	+	Silent	SNP	A	A	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr2:68607905A>T	ENST00000234313.7	+	3	428	c.249A>T	c.(247-249)gcA>gcT	p.A83A		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	83	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TCTTCCAGGCAGCCTTCCTGG	0.458																																																0			2											131	131	131					2																	68607905		2203	4300	6503	68461409	SO:0001819	synonymous_variant	5341			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.249A>T	2.37:g.68607905A>T			68461409	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	CCDS1887.1																																																																																				0.458	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		T	68607905	A	T	68607905	2	4	34	1	0	0	0	0	0	0	0	1	12053	175	7	5		5	PLEK	2	68607905	Silent	SNP	A	TCGA-04-1651-01A-01W-0639-09		68607905	174591468	7	1680											
CAPG	822	genome.wustl.edu	37	2	85629035	85629036	+	Frame_Shift_Ins	INS	-	-	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr2:85629035_85629036insA	ENST00000409921.1	-	3	134_135	c.68_69insT	c.(67-69)gtgfs	p.V23fs	CAPG_ENST00000409724.1_Frame_Shift_Ins_p.V23fs|CAPG_ENST00000263867.4_Frame_Shift_Ins_p.V23fs|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000409670.1_Frame_Shift_Ins_p.V23fs			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CCACCCGCCACACATGCAGGCC	0.619																																																0			2																																								85482547	SO:0001589	frameshift_variant	822			M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.69dupT	2.37:g.85629036_85629036dupA	ENSP00000387063:p.Val23fs		85482546	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Ins	INS	ENST00000409921.1	37	CCDS58715.1																																																																																				0.619	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		A	85629036	-	A	85629035	7	5	34	1	0	1	1	0	0	0	0	0	2621	465	17	0	1009	0	CAPG	2	85629035	Frame_Shift_Ins	INS	-	TCGA-04-1651-01A-01W-0639-09	17021130	85629035	157570338	8	1681											
TRPM8	79054	genome.wustl.edu	37	2	234869689	234869689	+	Silent	SNP	C	C	T	rs142882642		TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr2:234869689C>T	ENST00000324695.4	+	12	1672	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	TRPM8_ENST00000433712.2_Silent_p.D232D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	544					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGGCCGGGACGAGATGGACA	0.488																																																0			2						C		0,4406		0,0,2203	58	53	55		1632	-11.3	0	2	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPM8	NM_024080.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		544/1105	234869689	1,13005	2203	4300	6503	234534428	SO:0001819	synonymous_variant	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1632C>T	2.37:g.234869689C>T			234534428	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	CCDS33407.1																																																																																				0.488	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		T	234869689	C	T	234869689	2	4	34	1	0	0	0	0	0	0	0	1	16592	535	19	1		1	TRPM8	2	234869689	Silent	SNP	C	TCGA-04-1651-01A-01W-0639-09	149240654	234869689	8329684	9	1682											
GRM7	2917	genome.wustl.edu	37	3	7620823	7620823	+	Silent	SNP	A	A	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr3:7620823A>C	ENST00000357716.4	+	8	2504	c.2230A>C	c.(2230-2232)Aga>Cga	p.R744R	GRM7_ENST00000403881.1_Silent_p.R744R|GRM7_ENST00000402647.2_Silent_p.R744R|GRM7_ENST00000486284.1_Silent_p.R744R|GRM7_ENST00000389336.4_Silent_p.R744R|GRM7_ENST00000458641.2_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	744					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGAGCAAGCCAGAGGGGTTCT	0.433																																																0			3											127	113	118					3																	7620823		2203	4300	6503	7595823	SO:0001819	synonymous_variant	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2230A>C	3.37:g.7620823A>C			7595823	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	CCDS43042.1																																																																																				0.433	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		C	7620823	A	C	7620823	2	2	34	1	0	0	0	0	0	0	0	1	6802	180	7	5		5	GRM7	3	7620823	Silent	SNP	A	TCGA-04-1651-01A-01W-0639-09		7620823	190401607	10	1683											
CCR3	1232	genome.wustl.edu	37	3	46307410	46307410	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr3:46307410C>A	ENST00000357422.2	+	4	1304	c.761C>A	c.(760-762)cCc>cAc	p.P254H	CCR3_ENST00000395942.2_Missense_Mutation_p.P254H|CCR3_ENST00000545097.1_Missense_Mutation_p.P275H|CCR3_ENST00000395940.2_Missense_Mutation_p.P254H|CCR3_ENST00000541018.1_Missense_Mutation_p.P254H			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	254					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TTCTGGACACCCTACAATGTG	0.463																																																0			3											90	89	90					3																	46307410		2203	4300	6503	46282414	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.761C>A	3.37:g.46307410C>A	ENSP00000350003:p.Pro254His		46282414	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771301	0.90108	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	D	0.94820	0.8327	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96694	0.9513	10	0.87932	D	0	.	19.9065	0.97010	0.0:1.0:0.0:0.0	.	275;254	F5GWL6;P51677	.;CCR3_HUMAN	H	254;275;254;254;254	ENSP00000350003:P254H;ENSP00000441600:P275H;ENSP00000440097:P254H;ENSP00000379271:P254H;ENSP00000379273:P254H	ENSP00000350003:P254H	P	+	2	0	CCR3	46282414	1.000000	0.71417	0.984000	0.44739	0.976000	0.68499	7.814000	0.86154	2.696000	0.92011	0.655000	0.94253	CCC		0.463	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			A	46307410	C	A	46307410	3	1	34	1	0	0	0	0	1	0	0	0	2942	623	22	3	830	3	CCR3	3	46307410	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09	38686587	46307410	151715020	11	1684											
BSN	8927	genome.wustl.edu	37	3	49699454	49699454	+	Silent	SNP	A	A	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr3:49699454A>T	ENST00000296452.4	+	6	10290	c.10176A>T	c.(10174-10176)gcA>gcT	p.A3392A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3392					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCCACCTGCAGTCAGCAGCA	0.527																																																0			3											74	80	78					3																	49699454		2203	4300	6503	49674458	SO:0001819	synonymous_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10176A>T	3.37:g.49699454A>T			49674458	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																				0.527	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49699454	A	T	49699454	2	4	34	1	0	0	0	0	0	0	0	1	1530	175	7	5		5	BSN	3	49699454	Silent	SNP	A	TCGA-04-1651-01A-01W-0639-09	3392044	49699454	148322976	12	1685											
LRRIQ4	344657	genome.wustl.edu	37	3	169548389	169548389	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr3:169548389A>T	ENST00000340806.6	+	3	1304	c.1304A>T	c.(1303-1305)cAa>cTa	p.Q435L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	435										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGCTTAAGCAACTTCCAGAT	0.458																																																0			3											72	71	71					3																	169548389		1899	4113	6012	171031083	SO:0001583	missense	344657				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1304A>T	3.37:g.169548389A>T	ENSP00000342188:p.Gln435Leu		171031083		Missense_Mutation	SNP	ENST00000340806.6	37	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772126	0.49680	.	.	ENSG00000188306	ENST00000340806	T	0.56444	0.46	5.69	3.24	0.37175	.	0.490245	0.20353	N	0.094017	T	0.43656	0.1257	N	0.21097	0.63	0.21527	N	0.999655	P	0.48998	0.918	P	0.49140	0.601	T	0.24048	-1.0171	10	0.23891	T	0.37	.	10.8254	0.46629	0.7478:0.0:0.0:0.2522	.	435	A6NIV6	LRIQ4_HUMAN	L	435	ENSP00000342188:Q435L	ENSP00000342188:Q435L	Q	+	2	0	LRRIQ4	171031083	0.660000	0.27420	0.285000	0.24819	0.441000	0.31987	2.546000	0.45778	0.398000	0.25338	-0.336000	0.08194	CAA		0.458	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		T	169548389	A	T	169548389	3	4	34	1	0	0	0	0	1	0	0	0	9031	130	5	5	1314	5	LRRIQ4	3	169548389	Missense_Mutation	SNP	A	TCGA-04-1651-01A-01W-0639-09	119848935	169548389	28474041	13	1686											
UGT2B4	7363	genome.wustl.edu	37	4	70346374	70346374	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr4:70346374C>A	ENST00000305107.6	-	6	1611	c.1565G>T	c.(1564-1566)gGa>gTa	p.G522V	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G386V|UGT2B4_ENST00000512583.1_3'UTR|AC108078.1_ENST00000583573.1_RNA	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	522					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CCCCTTCTTTCCTGTTCTAAC	0.413																																																0			4											142	143	143					4																	70346374		2203	4300	6503	70380963	SO:0001583	missense	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1565G>T	4.37:g.70346374C>A	ENSP00000305221:p.Gly522Val		70380963	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	4.162	0.028489	0.08054	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.59083	0.29;0.29	2.11	-0.827	0.10802	.	0.739627	0.11200	U	0.588891	T	0.53658	0.1810	M	0.79011	2.435	0.22199	N	0.9993	B;B	0.15473	0.013;0.013	B;B	0.26693	0.072;0.046	T	0.53056	-0.8492	10	0.51188	T	0.08	.	3.7793	0.08674	0.0:0.3119:0.4049:0.2832	.	386;522	A6NCP7;P06133	.;UD2B4_HUMAN	V	522;386	ENSP00000305221:G522V;ENSP00000370486:G386V	ENSP00000305221:G522V	G	-	2	0	UGT2B4	70380963	0.000000	0.05858	0.017000	0.16124	0.016000	0.09150	-1.069000	0.03444	-0.278000	0.09180	-0.680000	0.03767	GGA		0.413	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		A	70346374	C	A	70346374	3	1	34	1	0	0	0	0	1	0	0	0	16961	855	30	3	25	3	UGT2B4	4	70346374	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09		70346374	120807902	14	1687											
SEC31A	22872	genome.wustl.edu	37	4	83742214	83742214	+	Silent	SNP	C	C	G	rs184276133		TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr4:83742214C>G	ENST00000395310.2	-	26	3641	c.3459G>C	c.(3457-3459)ctG>ctC	p.L1153L	SEC31A_ENST00000311785.7_Silent_p.L1039L|SEC31A_ENST00000508502.1_Silent_p.L1138L|SEC31A_ENST00000500777.2_Silent_p.L1000L|SEC31A_ENST00000355196.2_Silent_p.L1153L|SEC31A_ENST00000448323.1_Silent_p.L1153L|SEC31A_ENST00000443462.2_Silent_p.L1133L|SEC31A_ENST00000505472.1_Silent_p.L1184L|SEC31A_ENST00000432794.1_Silent_p.L1166L|SEC31A_ENST00000326950.5_Silent_p.L1114L|SEC31A_ENST00000513858.1_Silent_p.L1000L|SEC31A_ENST00000505984.1_Silent_p.L1099L|SEC31A_ENST00000348405.4_Silent_p.L1114L|SEC31A_ENST00000509142.1_Silent_p.L1039L|SEC31A_ENST00000264405.5_Silent_p.L902L	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1153					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTTATCATACAGAAACTCCA	0.338																																																0			4											203	213	209					4																	83742214		2203	4300	6503	83961238	SO:0001819	synonymous_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3459G>C	4.37:g.83742214C>G			83961238	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	7.682	0.689224	0.14973	.	.	ENSG00000138674	ENST00000503937	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63910	-0.6530	4	.	.	.	-10.1639	11.606	0.51033	0.0803:0.6046:0.1626:0.1525	.	.	.	.	S	316	.	.	C	-	2	0	SEC31A	83961238	0.000000	0.05858	0.425000	0.26659	0.995000	0.86356	-2.339000	0.01102	-2.230000	0.00719	0.655000	0.94253	TGT		0.338	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		G	83742214	C	G	83742214	2	3	34	1	0	0	0	0	0	0	0	1	14001	465	17	3		3	SEC31A	4	83742214	Silent	SNP	C	TCGA-04-1651-01A-01W-0639-09	13395840	83742214	107412062	15	1688											
UNC5C	8633	genome.wustl.edu	37	4	96222851	96222851	+	Silent	SNP	T	T	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr4:96222851T>C	ENST00000453304.1	-	3	744	c.396A>G	c.(394-396)gaA>gaG	p.E132E	UNC5C_ENST00000504962.1_Silent_p.E132E|UNC5C_ENST00000506749.1_Silent_p.E132E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	132	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAAAGAGTTCTTCCACTTGCT	0.483																																																0			4											80	66	71					4																	96222851		2203	4300	6503	96441874	SO:0001819	synonymous_variant	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.396A>G	4.37:g.96222851T>C			96441874	Q8IUT0	Silent	SNP	ENST00000453304.1	37	CCDS3643.1																																																																																				0.483	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		C	96222851	T	C	96222851	2	2	34	1	0	0	0	0	0	0	0	1	16993	1606	56	4		4	UNC5C	4	96222851	Silent	SNP	T	TCGA-04-1651-01A-01W-0639-09	12480637	96222851	94931425	16	1689											
PITX2	5308	genome.wustl.edu	37	4	111539315	111539315	+	Missense_Mutation	SNP	C	C	G	rs571758306		TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr4:111539315C>G	ENST00000354925.2	-	7	2625	c.920G>C	c.(919-921)aGt>aCt	p.S307T	PITX2_ENST00000394598.2_Missense_Mutation_p.S307T|PITX2_ENST00000394595.3_3'UTR|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000306732.3_Missense_Mutation_p.S314T|PITX2_ENST00000355080.5_Missense_Mutation_p.S261T|PITX2_ENST00000556049.1_5'Flank	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	307					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGGCAAGCACTCAGGTTGGA	0.632																																																0			4											48	46	47					4																	111539315		2203	4300	6503	111758764	SO:0001583	missense	5308			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.920G>C	4.37:g.111539315C>G	ENSP00000347004:p.Ser307Thr		111758764	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953182	0.73902	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925	D;D;D;D	0.94497	-3.26;-3.34;-3.44;-3.34	5.68	5.68	0.88126	.	0.035417	0.85682	D	0.000000	D	0.96685	0.8918	M	0.82323	2.585	0.80722	D	1	P;P;D;D	0.55172	0.584;0.75;0.97;0.969	B;B;P;P	0.53912	0.338;0.306;0.718;0.737	D	0.96784	0.9577	10	0.66056	D	0.02	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	261;261;307;314	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	T	314;307;261;307	ENSP00000304169:S314T;ENSP00000378097:S307T;ENSP00000347192:S261T;ENSP00000347004:S307T	ENSP00000304169:S314T	S	-	2	0	PITX2	111758764	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.818000	0.86416	2.689000	0.91719	0.655000	0.94253	AGT		0.632	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			G	111539315	C	G	111539315	3	3	34	1	0	0	0	0	1	0	0	0	11955	565	20	3	37	3	PITX2	4	111539315	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09	15316464	111539315	79614961	17	1690											
PDZD2	23037	genome.wustl.edu	37	5	31983260	31983260	+	Splice_Site	SNP	G	G	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr5:31983260G>T	ENST00000438447.1	+	3	864		c.e3-1		PDZD2_ENST00000282493.3_Splice_Site			O15018	PDZD2_HUMAN	PDZ domain containing 2						cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				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						GTCTGTTGCAGTTACCTGGCT	0.532																																																0			5											94	99	98					5																	31983260		2203	4300	6503	32019017	SO:0001630	splice_region_variant	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.477-1G>T	5.37:g.31983260G>T			32019017	Q9BXD4	Splice_Site	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252076	0.80135	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3449	0.83120	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDZD2	32019017	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.796000	0.91877	2.722000	0.93159	0.650000	0.86243	.		0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		Intron	T	31983260	G	T	31983260	5	4	34	1	0	0	0	0	0	0	1	0	11701	1043	36	3	482	3	PDZD2	5	31983260	Splice_Site	SNP	G	TCGA-04-1651-01A-01W-0639-09		31983260	148932000	18	1691											
ARSB	411	genome.wustl.edu	37	5	78076318	78076318	+	Silent	SNP	G	G	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr5:78076318G>A	ENST00000264914.4	-	8	2040	c.1504C>T	c.(1504-1506)Cta>Tta	p.L502L		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	502					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TAGAACTGTAGGCGGGACAGG	0.542																																					Melanoma(169;563 1968 25780 26156 52266)											0			5											107	89	95					5																	78076318		2203	4300	6503	78112074	SO:0001819	synonymous_variant	411			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1504C>T	5.37:g.78076318G>A			78112074	B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	CCDS4043.1																																																																																				0.542	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		A	78076318	G	A	78076318	2	1	34	1	0	0	0	0	0	0	0	1	988	991	35	2		2	ARSB	5	78076318	Silent	SNP	G	TCGA-04-1651-01A-01W-0639-09	46093058	78076318	102838942	19	1692											
MSX2	4488	genome.wustl.edu	37	5	174156278	174156278	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr5:174156278T>A	ENST00000239243.6	+	2	623	c.496T>A	c.(496-498)Tac>Aac	p.Y166N	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	166					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAGAAACAGTACCTCTCCAT	0.567																																																0			5											69	63	65					5																	174156278		2203	4300	6503	174088884	SO:0001583	missense	4488			D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"Homeoboxes / ANTP class : NKL subclass"	7392	protein-coding gene	gene with protein product	"craniosynostosis, type 2"	123101	"msh (Drosophila) homeo box homolog 2", "parietal foramina 1", "msh homeobox homolog 2 (Drosophila)"	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.496T>A	5.37:g.174156278T>A	ENSP00000239243:p.Tyr166Asn		174088884	D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878951	0.91740	.	.	ENSG00000120149	ENST00000239243	D	0.97161	-4.27	5.72	5.72	0.89469	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98965	1.0799	10	0.87932	D	0	-14.494	15.9791	0.80094	0.0:0.0:0.0:1.0	.	166	P35548	MSX2_HUMAN	N	166	ENSP00000239243:Y166N	ENSP00000239243:Y166N	Y	+	1	0	MSX2	174088884	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.991000	0.88244	2.182000	0.69389	0.482000	0.46254	TAC		0.567	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			A	174156278	T	A	174156278	3	1	34	1	0	0	0	0	1	0	0	0	9896	1638	57	5	502	5	MSX2	5	174156278	Missense_Mutation	SNP	T	TCGA-04-1651-01A-01W-0639-09	96079960	174156278	6758982	20	1693											
LMAN2	10960	genome.wustl.edu	37	5	176759244	176759244	+	Missense_Mutation	SNP	T	T	C	rs371597149		TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr5:176759244T>C	ENST00000303127.7	-	8	1118	c.914A>G	c.(913-915)aAc>aGc	p.N305S	LMAN2_ENST00000515209.1_Missense_Mutation_p.T313A	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	305					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCGTCCACGTTGTCTGGGGG	0.692																																																0			5						T	SER/ASN	0,4378		0,0,2189	11	16	15		914	4.2	1	5		15	1,8553		0,1,4276	no	missense	LMAN2	NM_006816.2	46	0,1,6465	CC,CT,TT		0.0117,0.0,0.0077	benign	305/357	176759244	1,12931	2189	4277	6466	176691850	SO:0001583	missense	10960			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.914A>G	5.37:g.176759244T>C	ENSP00000303366:p.Asn305Ser		176691850	Q53HH1	Missense_Mutation	SNP	ENST00000303127.7	37	CCDS4417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.037946|4.037946	0.75617|0.75617	0.0|0.0	1.17E-4|1.17E-4	ENSG00000169223|ENSG00000169223	ENST00000303127;ENST00000539488|ENST00000515209	T|T	0.63417|0.62788	-0.04|0.0	5.37|5.37	4.22|4.22	0.49857|0.49857	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57740|0.57740	0.2074|0.2074	L|L	0.57536|0.57536	1.79|1.79	0.25591|0.25591	N|N	0.986697|0.986697	B|B	0.17038|0.02656	0.02|0.0	B|B	0.11329|0.01281	0.006|0.0	T|T	0.50575|0.50575	-0.8812|-0.8812	10|9	0.12766|0.42905	T|T	0.61|0.14	-15.3819|-15.3819	10.8076|10.8076	0.46527|0.46527	0.0:0.0751:0.0:0.9249|0.0:0.0751:0.0:0.9249	.|.	305|313	Q12907|D6RBV2	LMAN2_HUMAN|.	S|A	305;234|313	ENSP00000303366:N305S|ENSP00000423998:T313A	ENSP00000303366:N305S|ENSP00000423998:T313A	N|T	-|-	2|1	0|0	LMAN2|LMAN2	176691850|176691850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.786000|0.786000	0.44442|0.44442	7.698000|7.698000	0.84413|0.84413	0.886000|0.886000	0.36113|0.36113	-0.250000|-0.250000	0.11733|0.11733	AAC|ACG		0.692	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		C	176759244	T	C	176759244	3	2	34	1	0	0	0	0	1	0	0	0	8838	1725	60	4	160	4	LMAN2	5	176759244	Missense_Mutation	SNP	T	TCGA-04-1651-01A-01W-0639-09	2602966	176759244	4156016	21	1694											
HIST1H4K	8362	genome.wustl.edu	37	6	27799038	27799038	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr6:27799038C>T	ENST00000357549.2	-	1	267	c.268G>A	c.(268-270)Gcg>Acg	p.A90T		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	90					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						CGCTTGAGCGCGTAGACCACA	0.597																																																0			6											26	30	29					6																	27799038		2202	4296	6498	27907017	SO:0001583	missense	8362			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.268G>A	6.37:g.27799038C>T	ENSP00000350159:p.Ala90Thr		27907017	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	26.9	4.785946	0.90282	.	.	ENSG00000197914	ENST00000357549	T	0.80033	-1.33	4.25	4.25	0.50352	.	0.000000	0.52532	U	0.000074	D	0.84642	0.5517	.	.	.	0.43152	D	0.994923	.	.	.	.	.	.	D	0.86883	0.2043	7	0.62326	D	0.03	.	16.0265	0.80548	0.0:1.0:0.0:0.0	.	.	.	.	T	90	ENSP00000350159:A90T	ENSP00000350159:A90T	A	-	1	0	HIST1H4K	27907017	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.277000	0.65586	2.064000	0.61679	0.650000	0.86243	GCG		0.597	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		T	27799038	C	T	27799038	3	4	34	1	0	0	0	0	1	0	0	0	7175	768	27	1	47	1	HIST1H4K	6	27799038	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09		27799038	143316029	22	1695											
LY6G6F	259215	genome.wustl.edu	37	6	31675350	31675350	+	Silent	SNP	C	C	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr6:31675350C>A	ENST00000375832.4	+	2	190	c.168C>A	c.(166-168)ggC>ggA	p.G56G	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Silent_p.G56G|MEGT1_ENST00000503322.1_Silent_p.G56G	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	56	Ig-like V-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTGCAGCAGGCTCCTTCACCA	0.592																																																0			6											49	43	45					6																	31675350		2203	4300	6503	31783329	SO:0001819	synonymous_variant	259215				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.168C>A	6.37:g.31675350C>A			31783329	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Silent	SNP	ENST00000375832.4	37	CCDS34403.1																																																																																				0.592	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		A	31675350	C	A	31675350	2	1	34	1	0	0	0	0	0	0	0	1	9096	784	28	3		3	LY6G6F	6	31675350	Silent	SNP	C	TCGA-04-1651-01A-01W-0639-09	3876312	31675350	139439717	23	1696											
RAPGEF5	9771	genome.wustl.edu	37	7	22165226	22165226	+	Silent	SNP	C	C	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr7:22165226C>T	ENST00000401957.2	-	15	1870	c.1623G>A	c.(1621-1623)caG>caA	p.Q541Q	RAPGEF5_ENST00000344041.6_Silent_p.Q691Q			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	541	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						ACTCACCAAACTGGTTAGTCC	0.438																																																0			7											148	141	143					7																	22165226		1965	4143	6108	22131751	SO:0001819	synonymous_variant	9771			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.1623G>A	7.37:g.22165226C>T			22131751	A4D140|Q8IXU5	Silent	SNP	ENST00000401957.2	37																																																																																					0.438	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		T	22165226	C	T	22165226	2	4	34	1	0	0	0	0	0	0	0	1	13050	564	20	2		2	RAPGEF5	7	22165226	Silent	SNP	C	TCGA-04-1651-01A-01W-0639-09		22165226	136973437	24	1697											
MYOM2	9172	genome.wustl.edu	37	8	2000340	2000340	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr8:2000340T>A	ENST00000262113.4	+	3	313	c.172T>A	c.(172-174)Tcc>Acc	p.S58T	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	58					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACAGAGAGCCTCCAGCCAGAC	0.572																																																0			8											156	144	148					8																	2000340		2203	4300	6503	1987747	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.172T>A	8.37:g.2000340T>A	ENSP00000262113:p.Ser58Thr		1987747	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878209	0.33162	.	.	ENSG00000036448	ENST00000262113	T	0.52057	0.68	4.71	0.913	0.19354	.	0.319699	0.27315	N	0.019928	T	0.36991	0.0987	L	0.59436	1.845	0.21220	N	0.99976	B	0.29037	0.231	B	0.27608	0.081	T	0.21861	-1.0233	10	0.41790	T	0.15	.	5.1725	0.15118	0.0:0.0948:0.3584:0.5468	.	58	P54296	MYOM2_HUMAN	T	58	ENSP00000262113:S58T	ENSP00000262113:S58T	S	+	1	0	MYOM2	1987747	0.001000	0.12720	0.002000	0.10522	0.103000	0.19146	0.067000	0.14510	0.010000	0.14839	-0.313000	0.08912	TCC		0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2000340	T	A	2000340	3	1	34	1	0	0	0	0	1	0	0	0	10092	1551	54	5	178	5	MYOM2	8	2000340	Missense_Mutation	SNP	T	TCGA-04-1651-01A-01W-0639-09		2000340	144363682	25	1698											
VPS13B	157680	genome.wustl.edu	37	8	100403887	100403887	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr8:100403887G>T	ENST00000358544.2	+	21	3148	c.3037G>T	c.(3037-3039)Gcc>Tcc	p.A1013S	VPS13B_ENST00000395996.1_Missense_Mutation_p.A1013S|VPS13B_ENST00000357162.2_Missense_Mutation_p.A1013S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1013					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATCATATCAGGCCTCTGAATA	0.448																																					Colon(161;2205 2542 7338 31318)											0			8											97	94	95					8																	100403887		2203	4300	6503	100473063	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3037G>T	8.37:g.100403887G>T	ENSP00000351346:p.Ala1013Ser		100473063	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034387	0.75617	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.51071	0.72;0.72;0.72	5.78	5.78	0.91487	.	0.063180	0.64402	D	0.000011	T	0.47728	0.1461	L	0.29908	0.895	0.44908	D	0.997921	P;D;P;B	0.55385	0.873;0.971;0.952;0.211	B;P;P;B	0.53224	0.359;0.721;0.53;0.066	T	0.21518	-1.0243	10	0.22706	T	0.39	.	15.4758	0.75478	0.0:0.138:0.862:0.0	.	1012;1013;1013;1013	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	S	1013	ENSP00000349685:A1013S;ENSP00000351346:A1013S;ENSP00000379318:A1013S	ENSP00000349685:A1013S	A	+	1	0	VPS13B	100473063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.963000	0.76055	2.737000	0.93849	0.585000	0.79938	GCC		0.448	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100403887	G	T	100403887	3	4	34	1	0	0	0	0	1	0	0	0	17190	1203	42	3	3238	3	VPS13B	8	100403887	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	98403547	100403887	45960135	26	1699											
C9orf79	286234	genome.wustl.edu	37	9	90502907	90502907	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr9:90502907G>C	ENST00000325643.5	+	4	3571	c.3505G>C	c.(3505-3507)Gcc>Ccc	p.A1169P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1169					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGGCCATGTGCCCTCCTATG	0.617																																																0			9											23	25	25					9																	90502907		2203	4300	6503	89692727	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3505G>C	9.37:g.90502907G>C	ENSP00000322640:p.Ala1169Pro		89692727	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	6.637	0.485985	0.12641	.	.	ENSG00000177992	ENST00000325643	T	0.03717	3.83	2.82	0.865	0.19074	.	1.790470	0.03167	N	0.170198	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.18166	0.026	B	0.17979	0.02	T	0.42464	-0.9450	10	0.39692	T	0.17	.	4.0544	0.09810	0.1445:0.2453:0.6102:0.0	.	1169	Q6ZUB1	CI079_HUMAN	P	1169	ENSP00000322640:A1169P	ENSP00000322640:A1169P	A	+	1	0	C9orf79	89692727	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.416000	0.07097	0.230000	0.21059	0.563000	0.77884	GCC		0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		C	90502907	G	C	90502907	3	2	34	1	0	0	0	0	1	0	0	0	2497	1319	46	3	3519	3	C9orf79	9	90502907	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09		90502907	50710524	27	1700											
GPR158	57512	genome.wustl.edu	37	10	25887337	25887337	+	Missense_Mutation	SNP	C	C	T	rs149419744		TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr10:25887337C>T	ENST00000376351.3	+	11	3141	c.2782C>T	c.(2782-2784)Cgc>Tgc	p.R928C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	928					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTGGAAGAACGCACTAAATC	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		19033	0		0	False		,,,				2504	0															0			10						C	CYS/ARG	0,4406		0,0,2203	128	141	137		2782	2.4	0	10	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	928/1216	25887337	1,13005	2203	4300	6503	25927343	SO:0001583	missense	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2782C>T	10.37:g.25887337C>T	ENSP00000365529:p.Arg928Cys		25927343	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	7.477	0.647797	0.14516	0.0	1.16E-4	ENSG00000151025	ENST00000376351	T	0.32023	1.47	5.52	2.36	0.29203	.	0.368550	0.25726	N	0.028709	T	0.31888	0.0811	L	0.44542	1.39	0.09310	N	1	D	0.53312	0.959	P	0.49361	0.608	T	0.10823	-1.0613	10	0.56958	D	0.05	.	10.0004	0.41924	0.4333:0.4747:0.092:0.0	.	928	Q5T848	GP158_HUMAN	C	928	ENSP00000365529:R928C	ENSP00000365529:R928C	R	+	1	0	GPR158	25927343	0.001000	0.12720	0.027000	0.17364	0.115000	0.19883	1.462000	0.35266	0.303000	0.22785	-2.122000	0.00348	CGC		0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		T	25887337	C	T	25887337	3	4	34	1	0	0	0	0	1	0	0	0	6663	536	19	1	2824	1	GPR158	10	25887337	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09		25887337	109647410	28	1701											
MASTL	84930	genome.wustl.edu	37	10	27454367	27454367	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr10:27454367C>T	ENST00000375940.4	+	6	767	c.710C>T	c.(709-711)gCc>gTc	p.A237V	MASTL_ENST00000375946.4_Missense_Mutation_p.A237V|MASTL_ENST00000342386.6_Missense_Mutation_p.A237V			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCTTTCAGCCTGTCTGTCT	0.378																																																0			10											134	124	128					10																	27454367		2203	4300	6503	27494373	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.710C>T	10.37:g.27454367C>T	ENSP00000365107:p.Ala237Val		27494373	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.428064	0.25726	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	D;D;D	0.83591	-1.74;-1.74;-1.74	5.97	3.03	0.35002	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.491079	0.26582	N	0.023565	T	0.73329	0.3573	L	0.36672	1.1	0.09310	N	1	B;B;B	0.24368	0.102;0.062;0.102	B;B;B	0.23852	0.049;0.024;0.049	T	0.62539	-0.6833	10	0.40728	T	0.16	-0.0155	9.1902	0.37195	0.0:0.4554:0.4572:0.0874	.	237;237;237	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	V	237	ENSP00000365113:A237V;ENSP00000343446:A237V;ENSP00000365107:A237V	ENSP00000343446:A237V	A	+	2	0	MASTL	27494373	0.020000	0.18652	0.005000	0.12908	0.074000	0.17049	1.874000	0.39568	0.855000	0.35359	0.591000	0.81541	GCC		0.378	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		T	27454367	C	T	27454367	3	4	34	1	0	0	0	0	1	0	0	0	9328	739	26	2	732	2	MASTL	10	27454367	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09	1567030	27454367	108080380	29	1702											
DUPD1	338599	genome.wustl.edu	37	10	76797756	76797756	+	Silent	SNP	G	G	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr10:76797756G>A	ENST00000338487.5	-	3	500	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	167	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCAGGGTCATGTCCTTGTGGA	0.622																																																0			10											76	63	67					10																	76797756		2203	4300	6503	76467762	SO:0001819	synonymous_variant	338599				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.501C>T	10.37:g.76797756G>A			76467762	B2RP93	Silent	SNP	ENST00000338487.5	37	CCDS31223.1																																																																																				0.622	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		A	76797756	G	A	76797756	2	1	34	1	0	0	0	0	0	0	0	1	4804	1368	48	2		2	DUPD1	10	76797756	Silent	SNP	G	TCGA-04-1651-01A-01W-0639-09	49343389	76797756	58736991	30	1703											
SORCS1	114815	genome.wustl.edu	37	10	108489822	108489822	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr10:108489822C>T	ENST00000263054.6	-	6	1017	c.1010G>A	c.(1009-1011)aGa>aAa	p.R337K	SORCS1_ENST00000344440.6_Missense_Mutation_p.R337K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	337					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATCCACAGTTCTGGCCTCAAG	0.373																																																0			10											150	126	134					10																	108489822		2203	4300	6503	108479812	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1010G>A	10.37:g.108489822C>T	ENSP00000263054:p.Arg337Lys		108479812	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074339	0.36566	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.32988	1.43;1.43	5.79	3.95	0.45737	VPS10 (1);	0.350098	0.32488	N	0.006023	T	0.23289	0.0563	L	0.43152	1.355	0.27222	N	0.959643	B;B;B;B;B	0.14012	0.005;0.004;0.009;0.005;0.009	B;B;B;B;B	0.17098	0.008;0.017;0.012;0.008;0.012	T	0.12218	-1.0556	9	.	.	.	-19.607	7.8835	0.29635	0.0:0.8194:0.0:0.1806	.	337;337;337;337;337	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	337	ENSP00000263054:R337K;ENSP00000345964:R337K	.	R	-	2	0	SORCS1	108479812	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.111000	0.31159	1.462000	0.47948	0.585000	0.79938	AGA		0.373	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		T	108489822	C	T	108489822	3	4	34	1	0	0	0	0	1	0	0	0	14933	913	32	2	2814	2	SORCS1	10	108489822	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09	31692066	108489822	27044925	31	1704											
PPFIA1	8500	genome.wustl.edu	37	11	70194363	70194363	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr11:70194363G>C	ENST00000253925.7	+	16	2215	c.2000G>C	c.(1999-2001)gGa>gCa	p.G667A	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.G667A	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	667					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.G667V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTTGGCAGTGGAAGTCTAGAC	0.502																																																1	Substitution - Missense(1)	skin(1)	11											208	169	182					11																	70194363		2200	4294	6494	69872011	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2000G>C	11.37:g.70194363G>C	ENSP00000253925:p.Gly667Ala		69872011	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.601|1.601	-0.526621|-0.526621	0.04141|0.04141	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000528750|ENST00000253925;ENST00000389547;ENST00000544950	.|T;T	.|0.41758	.|0.99;0.99	5.65|5.65	4.73|4.73	0.59995|0.59995	.|.	.|0.134219	.|0.48767	.|D	.|0.000172	T|T	0.39517|0.39517	0.1081|0.1081	M|M	0.62723|0.62723	1.935|1.935	0.38303|0.38303	D|D	0.943031|0.943031	.|B;B	.|0.25441	.|0.039;0.126	.|B;B	.|0.29077	.|0.045;0.098	T|T	0.39333|0.39333	-0.9619|-0.9619	5|10	.|0.02654	.|T	.|1	.|.	16.0425|16.0425	0.80695|0.80695	0.0:0.0:0.8647:0.1353|0.0:0.0:0.8647:0.1353	.|.	.|667;667	.|Q13136;Q13136-2	.|LIPA1_HUMAN;.	Q|A	71|667;667;154	.|ENSP00000253925:G667A;ENSP00000374198:G667A	.|ENSP00000253925:G667A	E|G	+|+	1|2	0|0	PPFIA1|PPFIA1	69872011|69872011	1.000000|1.000000	0.71417|0.71417	0.043000|0.043000	0.18650|0.18650	0.068000|0.068000	0.16541|0.16541	6.267000|6.267000	0.72546|0.72546	1.370000|1.370000	0.46153|0.46153	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.502	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		C	70194363	G	C	70194363	3	2	34	1	0	0	0	0	1	0	0	0	12309	1174	41	3	2058	3	PPFIA1	11	70194363	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09		70194363	64812153	32	1705											
USP28	57646	genome.wustl.edu	37	11	113674595	113674595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr11:113674595C>T	ENST00000003302.4	-	22	2731	c.2663G>A	c.(2662-2664)tGg>tAg	p.W888*	USP28_ENST00000260188.5_Nonsense_Mutation_p.W856*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W731*|USP28_ENST00000544967.1_Nonsense_Mutation_p.W564*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	888					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATCTTCATGCCACTTCTGAAA	0.313																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0			11											70	70	70					11																	113674595		2201	4296	6497	113179805	SO:0001587	stop_gained	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2663G>A	11.37:g.113674595C>T	ENSP00000003302:p.Trp888*		113179805	B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	41	8.717300	0.98927	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7941	20.2618	0.98447	0.0:1.0:0.0:0.0	.	.	.	.	X	888;856;564;731	.	ENSP00000003302:W888X	W	-	2	0	USP28	113179805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.301000	0.78850	2.793000	0.96121	0.655000	0.94253	TGG		0.313	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			T	113674595	C	T	113674595	4	4	34	1	0	0	0	0	0	1	0	0	17058	595	21	2	586	2	USP28	11	113674595	Nonsense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09	43480232	113674595	21331921	33	1706											
GDF3	9573	genome.wustl.edu	37	12	7842869	7842869	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr12:7842869G>T	ENST00000329913.3	-	2	747	c.700C>A	c.(700-702)Ctg>Atg	p.L234M		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	234					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTCACCACCAGCAGGGAAGCA	0.517																																																0			12											101	93	96					12																	7842869		2203	4300	6503	7734136	SO:0001583	missense	9573			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.700C>A	12.37:g.7842869G>T	ENSP00000331745:p.Leu234Met		7734136	Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861604	0.32884	.	.	ENSG00000184344	ENST00000329913	D	0.83419	-1.72	4.61	2.65	0.31530	.	0.288762	0.33401	N	0.004959	D	0.85234	0.5650	M	0.61703	1.905	0.41589	D	0.988785	D	0.60575	0.988	D	0.63381	0.914	T	0.81422	-0.0940	10	0.20046	T	0.44	.	8.1557	0.31167	0.0908:0.0:0.7542:0.1549	.	234	Q9NR23	GDF3_HUMAN	M	234	ENSP00000331745:L234M	ENSP00000331745:L234M	L	-	1	2	GDF3	7734136	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	1.404000	0.34623	1.077000	0.40990	0.561000	0.74099	CTG		0.517	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			T	7842869	G	T	7842869	3	4	34	1	0	0	0	0	1	0	0	0	6315	962	34	3	398	3	GDF3	12	7842869	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09		7842869	126009026	34	1707											
C12orf39	80763	genome.wustl.edu	37	12	21681938	21681938	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr12:21681938G>C	ENST00000256969.2	+	5	378	c.212G>C	c.(211-213)aGa>aCa	p.R71T	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		71					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCTGCAGAAAGACGAAGCCCA	0.398																																																0			12											166	173	171					12																	21681938		2203	4300	6503	21573205	SO:0001583	missense	80763																														ENST00000256969.2:c.212G>C	12.37:g.21681938G>C	ENSP00000256969:p.Arg71Thr		21573205	B3KND6	Missense_Mutation	SNP	ENST00000256969.2	37	CCDS31757.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511686	0.44660	.	.	ENSG00000134548	ENST00000256969	.	.	.	4.94	4.05	0.47172	.	0.200282	0.41294	D	0.000904	T	0.21227	0.0511	L	0.38175	1.15	0.25132	N	0.990562	P	0.37731	0.607	B	0.36418	0.224	T	0.13791	-1.0496	9	0.07990	T	0.79	-21.9354	6.4185	0.21730	0.0957:0.1863:0.718:0.0	.	71	Q9BT56	SPXN_HUMAN	T	71	.	ENSP00000256969:R71T	R	+	2	0	C12orf39	21573205	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.898000	0.39809	2.726000	0.93360	0.650000	0.86243	AGA		0.398	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1			C	21681938	G	C	21681938	3	2	34	1	0	0	0	0	1	0	0	0	1684	942	33	3	230	3	C12orf39	12	21681938	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	13839069	21681938	112169957	35	1708											
ALG10B	144245	genome.wustl.edu	37	12	38714298	38714298	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr12:38714298G>C	ENST00000308742.4	+	3	1021	c.705G>C	c.(703-705)caG>caC	p.Q235H	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	235					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAATTCTTCAGTTTCTTTTGG	0.373																																																0			12											105	114	111					12																	38714298		2203	4297	6500	37000565	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.705G>C	12.37:g.38714298G>C	ENSP00000310120:p.Gln235His		37000565	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	0.127	-1.118847	0.01785	.	.	ENSG00000175548	ENST00000308742	T	0.56103	0.48	3.23	0.275	0.15659	.	0.704402	0.14176	N	0.336348	T	0.43942	0.1270	L	0.42245	1.32	0.58432	D	0.999993	P	0.41345	0.746	P	0.44359	0.447	T	0.28681	-1.0036	10	0.45353	T	0.12	.	5.2277	0.15404	0.2126:0.1706:0.6168:0.0	.	235	Q5I7T1	AG10B_HUMAN	H	235	ENSP00000310120:Q235H	ENSP00000310120:Q235H	Q	+	3	2	ALG10B	37000565	0.016000	0.18221	0.056000	0.19401	0.506000	0.33950	0.048000	0.14078	0.047000	0.15862	-0.163000	0.13421	CAG		0.373	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		C	38714298	G	C	38714298	3	2	34	1	0	0	0	0	1	0	0	0	512	1020	36	3	715	3	ALG10B	12	38714298	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	17032360	38714298	95137597	36	1709											
COL2A1	1280	genome.wustl.edu	37	12	48369838	48369838	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr12:48369838C>T	ENST00000380518.3	-	50	3669	c.3505G>A	c.(3505-3507)Gtc>Atc	p.V1169I	COL2A1_ENST00000337299.6_Missense_Mutation_p.V1100I|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1169	Triple-helical region.		Missing (in SEDC).		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGGGACCGACGGGGCCAGGA	0.632																																																0			12											79	81	80					12																	48369838		2203	4300	6503	46656105	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3505G>A	12.37:g.48369838C>T	ENSP00000369889:p.Val1169Ile		46656105	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333912	0.41297	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93307	-3.2;-3.2	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	D	0.86944	0.6055	N	0.25890	0.77	0.51482	D	0.999925	P;P	0.38110	0.564;0.618	B;B	0.26614	0.043;0.071	D	0.87132	0.2197	10	0.37606	T	0.19	.	17.064	0.86555	0.0:1.0:0.0:0.0	.	1100;1169	P02458-1;P02458	.;CO2A1_HUMAN	I	1169;1100;1100	ENSP00000369889:V1169I;ENSP00000338213:V1100I	ENSP00000338213:V1100I	V	-	1	0	COL2A1	46656105	0.004000	0.15560	0.967000	0.41034	0.688000	0.40055	2.089000	0.41672	2.318000	0.78349	0.462000	0.41574	GTC		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		T	48369838	C	T	48369838	3	4	34	1	0	0	0	0	1	0	0	0	3687	536	19	1	978	1	COL2A1	12	48369838	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09	9655540	48369838	85482057	37	1710											
TMEM62	80021	genome.wustl.edu	37	15	43438759	43438759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr15:43438759C>A	ENST00000260403.2	+	5	824	c.545C>A	c.(544-546)tCg>tAg	p.S182*		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	182						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GGCAACTATTCGTTCATCTGT	0.393																																																0			15											227	222	224					15																	43438759		2203	4299	6502	41226051	SO:0001587	stop_gained	80021			BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.545C>A	15.37:g.43438759C>A	ENSP00000260403:p.Ser182*		41226051	Q6I9Y5|Q9H5J6	Nonsense_Mutation	SNP	ENST00000260403.2	37	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	C	37	6.527541	0.97637	.	.	ENSG00000137842	ENST00000260403	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8109	18.9054	0.92458	0.0:1.0:0.0:0.0	.	.	.	.	X	182	.	ENSP00000260403:S182X	S	+	2	0	TMEM62	41226051	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.392000	0.79840	2.691000	0.91804	0.563000	0.77884	TCG		0.393	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		A	43438759	C	A	43438759	4	1	34	1	0	0	0	0	0	1	0	0	16189	893	31	3	563	3	TMEM62	15	43438759	Nonsense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09		43438759	59092633	38	1711											
EPB42	2038	genome.wustl.edu	37	15	43500972	43500972	+	Splice_Site	SNP	C	C	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr15:43500972C>A	ENST00000441366.2	-	7	1059	c.834G>T	c.(832-834)gtG>gtT	p.V278V	EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000300215.3_Splice_Site_p.V308V|EPB42_ENST00000540029.1_Splice_Site_p.V200V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	278					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GGCATCGCAGCACTGTGAGAA	0.597																																																0			15											33	33	33					15																	43500972		2203	4299	6502	41288264	SO:0001630	splice_region_variant	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.833-1G>T	15.37:g.43500972C>A			41288264	Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	CCDS45249.1																																																																																				0.597	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119	Silent	A	43500972	C	A	43500972	5	1	34	1	0	0	0	0	0	0	1	0	5158	724	25	3	1269	3	EPB42	15	43500972	Splice_Site	SNP	C	TCGA-04-1651-01A-01W-0639-09	62213	43500972	59030420	39	1712											
SLC24A5	283652	genome.wustl.edu	37	15	48414182	48414182	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr15:48414182T>A	ENST00000341459.3	+	2	323	c.250T>A	c.(250-252)Tct>Act	p.S84T	SLC24A5_ENST00000482911.2_Missense_Mutation_p.S84T|SLC24A5_ENST00000449382.2_Intron	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	84					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CATGGCCATATCTATTGTCTG	0.448																																																0			15											213	203	206					15																	48414182		2198	4297	6495	46201474	SO:0001583	missense	283652			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.250T>A	15.37:g.48414182T>A	ENSP00000341550:p.Ser84Thr		46201474	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929038	0.73327	.	.	ENSG00000188467	ENST00000341459	T	0.62639	0.01	5.63	5.63	0.86233	Sodium/calcium exchanger membrane region (1);	0.179618	0.50627	D	0.000120	T	0.67221	0.2870	L	0.53249	1.67	0.80722	D	1	P;P	0.51351	0.939;0.944	P;P	0.53360	0.67;0.724	T	0.68530	-0.5384	10	0.49607	T	0.09	.	11.7544	0.51868	0.0:0.0:0.1471:0.8529	.	84;84	Q71RS6;A5X8Z8	NCKX5_HUMAN;.	T	84	ENSP00000341550:S84T	ENSP00000341550:S84T	S	+	1	0	SLC24A5	46201474	1.000000	0.71417	0.836000	0.33094	0.856000	0.48823	1.497000	0.35649	2.271000	0.75665	0.533000	0.62120	TCT		0.448	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		A	48414182	T	A	48414182	3	1	34	1	0	0	0	0	1	0	0	0	14472	1435	50	5	256	5	SLC24A5	15	48414182	Missense_Mutation	SNP	T	TCGA-04-1651-01A-01W-0639-09	4913210	48414182	54117210	40	1713											
CLCN7	1186	genome.wustl.edu	37	16	1507737	1507737	+	Silent	SNP	G	G	A	rs117183989	byFrequency	TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr16:1507737G>A	ENST00000382745.4	-	8	1301	c.696C>T	c.(694-696)tcC>tcT	p.S232S	CLCN7_ENST00000448525.1_Silent_p.S208S|CLCN7_ENST00000262318.8_Silent_p.S208S	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	232					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GGATCACACCGGACACTTTGA	0.607													G|||	25	0.00499201	0	0.0101	5008	,	,		17715	0		0.0169	False		,,,				2504	0.001															0			16						G	,	12,4386	19.1+/-41.9	0,12,2187	87	77	80		624,696	-10.8	0.4	16	dbSNP_132	80	121,8479	62.4+/-124.4	0,121,4179	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	0,133,6366	AA,AG,GG		1.407,0.2729,1.0232	,	208/782,232/806	1507737	133,12865	2199	4300	6499	1447738	SO:0001819	synonymous_variant	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.696C>T	16.37:g.1507737G>A			1447738	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																				0.607	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		A	1507737	G	A	1507737	2	1	34	1	0	0	0	0	0	0	0	1	3468	1103	39	1		1	CLCN7	16	1507737	Silent	SNP	G	TCGA-04-1651-01A-01W-0639-09		1507737	88847016	41	1714											
ADCY9	115	genome.wustl.edu	37	16	4164238	4164238	+	Silent	SNP	G	G	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr16:4164238G>C	ENST00000294016.3	-	2	1744	c.1206C>G	c.(1204-1206)ggC>ggG	p.G402G		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	402	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTGGTGAAGCCCACGATAT	0.502																																																0			16											78	80	79					16																	4164238		2197	4300	6497	4104239	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1206C>G	16.37:g.4164238G>C			4104239	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																				0.502	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			C	4164238	G	C	4164238	2	2	34	1	0	0	0	0	0	0	0	1	301	958	34	3		3	ADCY9	16	4164238	Silent	SNP	G	TCGA-04-1651-01A-01W-0639-09	2656501	4164238	86190515	42	1715											
TP53	7157	genome.wustl.edu	37	17	7574000	7574000	+	Nonsense_Mutation	SNP	C	C	A	rs375573770		TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr17:7574000C>A	ENST00000269305.4	-	10	1216	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E343*|TP53_ENST00000455263.2_3'UTR	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	343	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> G (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E343*(8)|p.0?(8)|p.R342_N345delRELN(1)|p.I332fs*5(1)|p.?(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)	TCATTCAGCTCTCGGAACATC	0.567		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"	19	Substitution - Nonsense(8)|Whole gene deletion(8)|Unknown(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	bone(4)|lung(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|biliary_tract(2)|oesophagus(2)|stomach(1)|breast(1)	17											63	49	54					17																	7574000		2203	4300	6503	7514725	SO:0001587	stop_gained	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.1027G>T	17.37:g.7574000C>A	ENSP00000269305:p.Glu343*		7514725	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416742	0.96092	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	0.0488	0.14286	.	0.424710	0.26746	N	0.022702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3598	8.103	0.30868	0.0:0.4892:0.0:0.5108	.	.	.	.	X	343;343;332	.	ENSP00000269305:E343X	E	-	1	0	TP53	7514725	0.924000	0.31332	0.029000	0.17559	0.870000	0.49936	2.211000	0.42825	0.026000	0.15269	-0.291000	0.09656	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7574000	C	A	7574000	4	1	34	1	0	0	0	0	0	1	0	0	16381	922	32	3	162	3	TP53	17	7574000	Nonsense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09		7574000	73621210	43	1716											
SREBF1	6720	genome.wustl.edu	37	17	17722368	17722368	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr17:17722368T>C	ENST00000261646.5	-	5	1211	c.1027A>G	c.(1027-1029)Atc>Gtc	p.I343V	SREBF1_ENST00000435530.2_Missense_Mutation_p.I343V|SREBF1_ENST00000355815.4_Missense_Mutation_p.I373V|SREBF1_ENST00000395757.1_Missense_Mutation_p.I89V|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Missense_Mutation_p.I343V	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	343	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGCTCAATGATTTTGTCATTG	0.607																																																0			17											95	90	91					17																	17722368		2203	4300	6503	17663093	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1027A>G	17.37:g.17722368T>C	ENSP00000261646:p.Ile343Val		17663093	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.65|13.65	2.301812|2.301812	0.40694|0.40694	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530|ENST00000395751	D;D;D;D;D|.	0.98493|.	-4.96;-4.96;-4.96;-4.96;-4.96|.	4.62|4.62	4.62|4.62	0.57501|0.57501	Helix-loop-helix DNA-binding (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83908|0.83908	0.5356|0.5356	M|M	0.92604|0.92604	3.325|3.325	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.71674|.	0.996;0.996;0.998;0.998|.	D;D;D;D|.	0.91635|.	0.994;0.999;0.997;0.995|.	D|D	0.87984|0.87984	0.2745|0.2745	10|5	0.87932|.	D|.	0|.	-7.1875|-7.1875	13.6947|13.6947	0.62569|0.62569	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	343;319;343;373|.	B0I4X3;B0I4X4;P36956;P36956-4|.	.;.;SRBP1_HUMAN;.|.	V|S	343;373;343;89;180;269;343|350	ENSP00000345822:I343V;ENSP00000348069:I373V;ENSP00000261646:I343V;ENSP00000379106:I89V;ENSP00000413389:I343V|.	ENSP00000261646:I343V|.	I|N	-|-	1|2	0|0	SREBF1|SREBF1	17663093|17663093	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.753000|0.753000	0.42808|0.42808	7.876000|7.876000	0.87215|0.87215	1.707000|1.707000	0.51288|0.51288	0.459000|0.459000	0.35465|0.35465	ATC|AAT		0.607	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		C	17722368	T	C	17722368	3	2	34	1	0	0	0	0	1	0	0	0	15143	1493	52	4	2476	4	SREBF1	17	17722368	Missense_Mutation	SNP	T	TCGA-04-1651-01A-01W-0639-09	10148368	17722368	63472842	44	1717											
CCL15	6359	genome.wustl.edu	37	17	34328515	34328515	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr17:34328515G>A	ENST00000354059.4	-	1	569	c.17C>T	c.(16-18)gCt>gTt	p.A6V	RP11-104J23.1_ENST00000590192.1_RNA|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.A6V|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	6					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGAGGGCAGCCACGGAGAC	0.612																																																0			17											83	63	70					17																	34328515		2203	4300	6503	31352628	SO:0001583	missense	6359			AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"Chemokine ligands", "Endogenous ligands"	10613	protein-coding gene	gene with protein product	"leukotactin 1", "CC chemokine 3", "macrophage inflammatory protein 5", "chemokine CC-2", "MIP-1 delta"	601393	"small inducible cytokine subfamily A (Cys-Cys), member 15"	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.17C>T	17.37:g.34328515G>A	ENSP00000293276:p.Ala6Val		31352628	B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	ENST00000354059.4	37	CCDS11304.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356084	0.61293	.	.	ENSG00000161574	ENST00000354059	T	0.08102	3.13	3.32	3.32	0.38043	.	1.276180	0.05818	N	0.615141	T	0.20659	0.0497	L	0.51422	1.61	0.09310	N	1	D	0.69078	0.997	P	0.59424	0.857	T	0.18967	-1.0320	10	0.48119	T	0.1	.	10.4158	0.44320	0.0:0.0:1.0:0.0	.	6	Q16663	CCL15_HUMAN	V	6	ENSP00000293276:A6V	ENSP00000293276:A6V	A	-	2	0	CCL15	31352628	0.004000	0.15560	0.062000	0.19696	0.002000	0.02628	0.478000	0.22212	2.137000	0.66172	0.603000	0.83216	GCT		0.612	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167		A	34328515	G	A	34328515	3	1	34	1	0	0	0	0	1	0	0	0	2886	971	34	2	340	2	CCL15	17	34328515	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	16606147	34328515	46866695	45	1718											
KRT9	3857	genome.wustl.edu	37	17	39724760	39724760	+	Splice_Site	SNP	C	C	G			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr17:39724760C>G	ENST00000246662.4	-	5	1235	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N	KRT9_ENST00000588431.1_Splice_Site_p.K157N	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	390	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AACTACCAACCTTGCTGAGCT	0.557																																																0			17											244	237	239					17																	39724760		2203	4300	6503	36978286	SO:0001630	splice_region_variant	3857				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1170+1G>C	17.37:g.39724760C>G			36978286	O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780891	0.70222	.	.	ENSG00000171403	ENST00000246662	D	0.88046	-2.33	5.15	3.01	0.34805	Filament (1);	0.909326	0.08925	N	0.873807	T	0.81108	0.4754	L	0.50333	1.59	0.30651	N	0.755444	P	0.35612	0.512	B	0.33121	0.158	T	0.74954	-0.3488	9	.	.	.	.	4.5826	0.12266	0.1528:0.5998:0.1643:0.0831	.	390	P35527	K1C9_HUMAN	N	390	ENSP00000246662:K390N	.	K	-	3	2	KRT9	36978286	0.998000	0.40836	0.956000	0.39512	0.919000	0.55068	3.813000	0.55636	1.131000	0.42111	0.561000	0.74099	AAG		0.557	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	Missense_Mutation	G	39724760	C	G	39724760	5	3	34	1	0	0	0	0	0	0	1	0	8501	695	24	3	713	3	KRT9	17	39724760	Splice_Site	SNP	C	TCGA-04-1651-01A-01W-0639-09	5396245	39724760	41470450	46	1719											
ZNF700	90592	genome.wustl.edu	37	19	12060471	12060471	+	Silent	SNP	C	C	G			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr19:12060471C>G	ENST00000254321.5	+	4	1775	c.1632C>G	c.(1630-1632)gcC>gcG	p.A544A	ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Silent_p.A526A|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTGGTAAAGCCTTCAGATGTT	0.418																																																0			19											99	94	96					19																	12060471		2203	4300	6503	11921471	SO:0001819	synonymous_variant	90592			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1632C>G	19.37:g.12060471C>G			11921471	B9EGU4	Silent	SNP	ENST00000254321.5	37	CCDS32915.1																																																																																				0.418	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		G	12060471	C	G	12060471	2	3	34	1	0	0	0	0	0	0	0	1	18104	668	24	3		3	ZNF700	19	12060471	Silent	SNP	C	TCGA-04-1651-01A-01W-0639-09		12060471	47068512	47	1720											
CD97	976	genome.wustl.edu	37	19	14507970	14507970	+	Missense_Mutation	SNP	G	G	A	rs376892799		TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr19:14507970G>A	ENST00000242786.5	+	6	640	c.560G>A	c.(559-561)cGc>cAc	p.R187H	CD97_ENST00000357355.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	187	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TATCAGTGCCGCTGCCGCCCG	0.597																																																0			19						G	,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	88	88		,,560	-4.4	0	19		88	0,8594		0,0,4297	no	intron,intron,missense	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	,,29	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,187/836	14507970	1,12999	2203	4297	6500	14368970	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.560G>A	19.37:g.14507970G>A	ENSP00000242786:p.Arg187His		14368970	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	g	5.183	0.219334	0.09863	2.27E-4	0.0	ENSG00000123146	ENST00000242786	D	0.92545	-3.06	3.53	-4.36	0.03645	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86213	0.5879	N	0.20685	0.6	0.09310	N	1	D	0.54601	0.967	P	0.53954	0.738	T	0.77191	-0.2678	9	0.40728	T	0.16	.	3.2302	0.06746	0.4123:0.0:0.266:0.3217	.	187	P48960	CD97_HUMAN	H	187	ENSP00000242786:R187H	ENSP00000242786:R187H	R	+	2	0	CD97	14368970	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	-2.026000	0.01434	-0.779000	0.04560	-0.275000	0.10095	CGC		0.597	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		A	14507970	G	A	14507970	3	1	34	1	0	0	0	0	1	0	0	0	3049	1087	38	1	582	1	CD97	19	14507970	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	2447499	14507970	44621013	48	1721											
ZNF345	25850	genome.wustl.edu	37	19	37368864	37368864	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr19:37368864G>T	ENST00000529555.1	+	2	1920	c.1132G>T	c.(1132-1134)Gcc>Tcc	p.A378S	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.A378S|ZNF345_ENST00000589046.1_Missense_Mutation_p.A378S|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	378					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A378S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTGGGAAGGCCTTTGGTAG	0.413																																																1	Substitution - Missense(1)	prostate(1)	19											88	84	85					19																	37368864		2203	4300	6503	42060704	SO:0001583	missense	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1132G>T	19.37:g.37368864G>T	ENSP00000431202:p.Ala378Ser		42060704		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	7.678	0.688312	0.14973	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.35973	1.28;1.28	3.8	0.0882	0.14454	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17619	0.0423	N	0.12422	0.21	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.21109	-1.0255	9	0.54805	T	0.06	.	3.1051	0.06339	0.2285:0.0:0.4679:0.3036	.	378	Q14585	ZN345_HUMAN	S	378;378;142	ENSP00000431216:A378S;ENSP00000431202:A378S	ENSP00000442320:A142S	A	+	1	0	ZNF345	42060704	0.000000	0.05858	0.991000	0.47740	0.705000	0.40729	-0.498000	0.06420	0.369000	0.24510	0.462000	0.41574	GCC		0.413	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			T	37368864	G	T	37368864	3	4	34	1	0	0	0	0	1	0	0	0	17859	1203	42	3	1134	3	ZNF345	19	37368864	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	22860894	37368864	21760119	49	1722											
SYT3	84258	genome.wustl.edu	37	19	51135630	51135630	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr19:51135630G>C	ENST00000338916.4	-	2	1220	c.587C>G	c.(586-588)tCt>tGt	p.S196C	SYT3_ENST00000544769.1_Missense_Mutation_p.S196C|SYT3_ENST00000593901.1_Missense_Mutation_p.S196C|SYT3_ENST00000600079.1_Missense_Mutation_p.S196C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	196					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGCAACCCAGAGCCTGCTCC	0.637																																																0			19											40	43	42					19																	51135630		2203	4300	6503	55827442	SO:0001583	missense	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.587C>G	19.37:g.51135630G>C	ENSP00000340914:p.Ser196Cys		55827442	Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305998	0.40795	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.60672	0.17;0.17	5.24	4.2	0.49525	.	0.112586	0.36519	U	0.002549	T	0.40398	0.1115	N	0.24115	0.695	0.23636	N	0.997235	B	0.06786	0.001	B	0.04013	0.001	T	0.26710	-1.0095	10	0.56958	D	0.05	.	8.3738	0.32432	0.0851:0.1587:0.7562:0.0	.	196	Q9BQG1	SYT3_HUMAN	C	196	ENSP00000340914:S196C;ENSP00000438883:S196C	ENSP00000340914:S196C	S	-	2	0	SYT3	55827442	0.790000	0.28787	0.975000	0.42487	0.941000	0.58515	2.782000	0.47758	2.605000	0.88082	0.655000	0.94253	TCT		0.637	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		C	51135630	G	C	51135630	3	2	34	1	0	0	0	0	1	0	0	0	15475	942	33	3	1213	3	SYT3	19	51135630	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	13766766	51135630	7993353	50	1723											
C20orf194	25943	genome.wustl.edu	37	20	3329236	3329236	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr20:3329236A>C	ENST00000252032.9	-	8	792	c.725T>G	c.(724-726)tTc>tGc	p.F242C		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	242										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATTAGCGAAGAAGCTAGTCCA	0.383																																																0			20											73	67	69					20																	3329236		1820	4081	5901	3277236	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.725T>G	20.37:g.3329236A>C	ENSP00000252032:p.Phe242Cys		3277236	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290055	0.59976	.	.	ENSG00000088854	ENST00000252032	T	0.20463	2.07	5.16	5.16	0.70880	.	0.055839	0.64402	D	0.000001	T	0.35799	0.0944	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.10222	-1.0639	10	0.72032	D	0.01	.	14.842	0.70233	1.0:0.0:0.0:0.0	.	242	Q5TEA3	CT194_HUMAN	C	242	ENSP00000252032:F242C	ENSP00000252032:F242C	F	-	2	0	C20orf194	3277236	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.315000	0.78998	2.185000	0.69588	0.454000	0.30748	TTC		0.383	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		C	3329236	A	C	3329236	3	2	34	1	0	0	0	0	1	0	0	0	2099	246	9	5	2928	5	C20orf194	20	3329236	Missense_Mutation	SNP	A	TCGA-04-1651-01A-01W-0639-09		3329236	59696284	51	1724											
PLK1S1	101929591	genome.wustl.edu	37	20	21143060	21143060	+	RNA	SNP	G	G	A	rs190940090	byFrequency	TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr20:21143060G>A	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							GAGCCAGCCCGCCAGTCTCTC	0.453													G|||	3	0.000599042	8e-04	0	5008	,	,		17848	0		0.002	False		,,,				2504	0															0			20											28	31	30					20																	21143060		1857	4100	5957	21091060			55857																															20.37:g.21143060G>A			21091060		Silent	SNP	ENST00000591761.1	37																																																																																					0.453	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			A	21143060	G	A	21143060	1	1	34	0	1	0	0	0	0	0	0	0	12095	1074	38	1		1	PLK1S1	20	21143060	RNA	SNP	G	TCGA-04-1651-01A-01W-0639-09	17813824	21143060	41882460	52	1725											
CHD6	84181	genome.wustl.edu	37	20	40049694	40049694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr20:40049694G>A	ENST00000373233.3	-	31	5758	c.5581C>T	c.(5581-5583)Cag>Tag	p.Q1861*		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1861					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGTGGTTCTGACTCAAAATC	0.418																																																0			20											83	88	86					20																	40049694		2203	4300	6503	39483108	SO:0001587	stop_gained	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5581C>T	20.37:g.40049694G>A	ENSP00000362330:p.Gln1861*		39483108	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	45	11.995545	0.99625	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.86	4.91	0.64330	.	0.229535	0.31092	N	0.008262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.224	15.4885	0.75587	0.0:0.1377:0.8623:0.0	.	.	.	.	X	1861	.	ENSP00000362330:Q1861X	Q	-	1	0	CHD6	39483108	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	4.270000	0.58896	1.474000	0.48178	-0.165000	0.13383	CAG		0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			A	40049694	G	A	40049694	4	1	34	1	0	0	0	0	0	1	0	0	3329	1299	45	2	2594	2	CHD6	20	40049694	Nonsense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09	18906634	40049694	22975826	53	1726											
SON	6651	genome.wustl.edu	37	21	34915420	34915420	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr21:34915420A>C	ENST00000356577.4	+	1	497	c.22A>C	c.(22-24)Att>Ctt	p.I8L	GART_ENST00000361093.5_5'Flank|SON_ENST00000381692.2_Missense_Mutation_p.I8L|SON_ENST00000300278.4_Missense_Mutation_p.I8L|GART_ENST00000381839.3_5'Flank|SON_ENST00000290239.6_Missense_Mutation_p.I8L|GART_ENST00000381831.3_5'Flank|SON_ENST00000381679.4_Missense_Mutation_p.I8L|GART_ENST00000381815.4_5'Flank	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	8					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CATCGAGCAGATTTTTAGGTC	0.577											OREG0003561	type=REGULATORY REGION|Gene=GART|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			21											137	125	129					21																	34915420		2203	4300	6503	33837290	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.22A>C	21.37:g.34915420A>C	ENSP00000348984:p.Ile8Leu	851	33837290	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471578	0.63737	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000381679	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.14	2.83	0.33086	.	0.253365	0.28241	N	0.016072	T	0.11580	0.0282	L	0.29908	0.895	0.21950	N	0.999456	B;P;P;P	0.39352	0.001;0.539;0.669;0.499	B;B;B;B	0.38880	0.001;0.147;0.284;0.175	T	0.13124	-1.0521	10	0.51188	T	0.08	.	6.0589	0.19826	0.7499:0.0:0.2501:0.0	.	8;8;8;8	Q6ZRV7;P18583;P18583-3;P18583-6	.;SON_HUMAN;.;.	L	8	ENSP00000348984:I8L;ENSP00000290239:I8L;ENSP00000371111:I8L;ENSP00000300278:I8L;ENSP00000371095:I8L	ENSP00000290239:I8L	I	+	1	0	SON	33837290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.899000	0.48679	0.464000	0.27142	0.533000	0.62120	ATT		0.577	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34915420	A	C	34915420	3	2	34	1	0	0	0	0	1	0	0	0	14929	333	12	5	24	5	SON	21	34915420	Missense_Mutation	SNP	A	TCGA-04-1651-01A-01W-0639-09		34915420	13214475	54	1727											
EWSR1	2130	genome.wustl.edu	37	22	29688506	29688506	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr22:29688506G>A	ENST00000397938.2	+	11	1394	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	EWSR1_ENST00000406548.1_Missense_Mutation_p.D358N|EWSR1_ENST00000332050.6_Missense_Mutation_p.D286N|EWSR1_ENST00000332035.6_Missense_Mutation_p.D303N|EWSR1_ENST00000331029.7_Missense_Mutation_p.D321N|EWSR1_ENST00000414183.2_Missense_Mutation_p.D364N	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAAGACTCTGACAACAGTGC	0.398			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	0			22											167	153	158					22																	29688506		2203	4300	6503	28018506	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1075G>A	22.37:g.29688506G>A	ENSP00000381031:p.Asp359Asn		28018506	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619178	0.96649	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	T;T;T;T;T;T	0.74737	1.29;-0.87;-0.87;-0.87;-0.87;-0.87	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);	0.059144	0.64402	U	0.000005	T	0.80783	0.4689	L	0.52573	1.65	0.58432	D	0.999997	P;P;P;B;P	0.46578	0.766;0.88;0.766;0.006;0.88	P;P;P;B;P	0.53313	0.723;0.723;0.723;0.042;0.723	T	0.81362	-0.0967	10	0.72032	D	0.01	.	20.0007	0.97408	0.0:0.0:1.0:0.0	.	303;358;303;364;359	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.;.;.;.;EWS_HUMAN	N	286;359;358;321;364;303	ENSP00000330896:D286N;ENSP00000381031:D359N;ENSP00000385726:D358N;ENSP00000330516:D321N;ENSP00000400142:D364N;ENSP00000331699:D303N	ENSP00000330516:D321N	D	+	1	0	EWSR1	28018506	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.434000	0.97515	2.726000	0.93360	0.650000	0.86243	GAC		0.398	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		A	29688506	G	A	29688506	3	1	34	1	0	0	0	0	1	0	0	0	5296	1290	45	2	1234	2	EWSR1	22	29688506	Missense_Mutation	SNP	G	TCGA-04-1651-01A-01W-0639-09		29688506	21616060	55	1728											
C22orf30	253143	genome.wustl.edu	37	22	32113269	32113269	+	Missense_Mutation	SNP	C	C	A	rs112531886	byFrequency	TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr22:32113269C>A	ENST00000327423.6	-	4	745	c.556G>T	c.(556-558)Gta>Tta	p.V186L	PRR14L_ENST00000461722.1_5'UTR|PRR14L_ENST00000397493.2_Missense_Mutation_p.V186L|PRR14L_ENST00000434485.1_Missense_Mutation_p.V186L	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	186										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GTAATCTGTACATTTCCTTCT	0.353													C|||	166	0.033147	0.0015	0.0173	5008	,	,		20285	0.0268		0.0388	False		,,,				2504	0.0879															0			22											161	118	131					22																	32113269		692	1591	2283	30443269	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.556G>T	22.37:g.32113269C>A	ENSP00000331845:p.Val186Leu		30443269	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	65	0.02976190476190476	3	0.006097560975609756	10	0.027624309392265192	20	0.03496503496503497	32	0.04221635883905013	C	15.04	2.715474	0.48622	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.09630	2.96;2.98;2.96	5.21	4.19	0.49359	.	0.154521	0.29806	N	0.011152	T	0.04407	0.0121	M	0.62723	1.935	0.80722	D	1	D	0.57571	0.98	P	0.50934	0.654	T	0.00299	-1.1836	10	0.56958	D	0.05	-8.4182	11.3719	0.49704	0.0:0.9163:0.0:0.0837	.	186	Q5THK1	PR14L_HUMAN	L	186	ENSP00000380630:V186L;ENSP00000331845:V186L;ENSP00000388314:V186L	ENSP00000331845:V186L	V	-	1	0	PRR14L	30443269	1.000000	0.71417	0.956000	0.39512	0.199000	0.23934	1.154000	0.31688	1.195000	0.43115	0.650000	0.86243	GTA		0.353	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		A	32113269	C	A	32113269	3	1	34	1	0	0	0	0	1	0	0	0	2142	478	17	3	5923	3	C22orf30	22	32113269	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09	2424763	32113269	19191297	56	1729											
DDX17	10521	genome.wustl.edu	37	22	38895460	38895460	+	Missense_Mutation	SNP	C	C	G	rs146518587	byFrequency	TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chr22:38895460C>G	ENST00000396821.3	-	3	582	c.483G>C	c.(481-483)agG>agC	p.R161S	DDX17_ENST00000381633.3_Missense_Mutation_p.R82S|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	161					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CATCTCCCCCCCTCACTGTAA	0.373																																					Ovarian(55;1085 1454 6392 21425)											0			22											163	149	154					22																	38895460		2203	4300	6503	37225406	SO:0001583	missense	10521			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.483G>C	22.37:g.38895460C>G	ENSP00000380033:p.Arg161Ser		37225406	B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.679757	0.29783	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.26223	1.75;1.76;1.76	5.44	3.25	0.37280	.	0.044866	0.85682	D	0.000000	T	0.14830	0.0358	L	0.36672	1.1	0.80722	D	1	B;B;B	0.22480	0.07;0.016;0.027	B;B;B	0.21917	0.016;0.016;0.037	T	0.11817	-1.0572	10	0.11485	T	0.65	-12.2355	3.3477	0.07141	0.1267:0.0705:0.2631:0.5398	.	82;163;161	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	S	161;82;161;163	ENSP00000380033:R161S;ENSP00000371046:R82S;ENSP00000385536:R161S	ENSP00000371046:R82S	R	-	3	2	DDX17	37225406	0.581000	0.26741	1.000000	0.80357	0.972000	0.66771	-0.111000	0.10807	0.341000	0.23771	-0.458000	0.05436	AGG		0.373	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		G	38895460	C	G	38895460	3	3	34	1	0	0	0	0	1	0	0	0	4344	622	22	3	1756	3	DDX17	22	38895460	Missense_Mutation	SNP	C	TCGA-04-1651-01A-01W-0639-09	6782191	38895460	12409106	57	1730											
RPGR	6103	genome.wustl.edu	37	X	38145034	38145034	+	Intron	SNP	C	C	G			TCGA-04-1651-01A-01W-0639-09	TCGA-04-1651-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f02d550d-d80c-449f-9d69-37ffb1e649b6	8e8ba185-6faf-49df-9784-594e179731c5	g.chrX:38145034C>G	ENST00000339363.3	-	14	2688				RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.G1073A|RPGR_ENST00000342811.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTCTTCTTCGCCTGTCTCCTG	0.428																																																0			X											377	295	323					X																	38145034		2202	4300	6502	38029978	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1312G>C	X.37:g.38145034C>G			38029978	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	c	6.732	0.503906	0.12822	.	.	ENSG00000156313	ENST00000378505	T	0.02369	4.32	2.84	1.89	0.25635	.	0.438446	0.20009	U	0.101167	T	0.04092	0.0114	M	0.61703	1.905	0.09310	N	1	P	0.35923	0.528	B	0.34779	0.189	T	0.27673	-1.0067	10	0.87932	D	0	.	8.3797	0.32463	0.4171:0.5829:0.0:0.0	.	1073	E9PE28	.	A	1073	ENSP00000367766:G1073A	ENSP00000367766:G1073A	G	-	2	0	RPGR	38029978	0.068000	0.21057	0.001000	0.08648	0.356000	0.29392	1.453000	0.35167	0.315000	0.23110	0.339000	0.21740	GGC		0.428	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		G	38145034	C	G	38145034	1	3	34	0	1	0	0	0	0	0	0	0	13551	739	26	3		3	RPGR	23	38145034	Intron	SNP	C	TCGA-04-1651-01A-01W-0639-09		38145034	117125526	58	1731											
COL16A1	1307	genome.wustl.edu	37	1	32149596	32149596	+	Silent	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr1:32149596G>A	ENST00000373672.3	-	33	2808	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P	COL16A1_ENST00000373668.3_Silent_p.P764P|COL16A1_ENST00000271069.6_Silent_p.P763P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	764	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGTAGACCGGGTTGGCCCT	0.642																																					Colon(143;498 1786 21362 25193 36625)											0			1											47	52	51					1																	32149596		1962	4126	6088	31922183	SO:0001819	synonymous_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2292C>T	1.37:g.32149596G>A			31922183	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																				0.642	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		A	32149596	G	A	32149596	2	1	35	1	0	0	0	0	0	0	0	1	3673	1103	39	1		1	COL16A1	1	32149596	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09		32149596	217101025	1	1732											
CHIA	27159	genome.wustl.edu	37	1	111861831	111861831	+	Silent	SNP	C	C	G			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr1:111861831C>G	ENST00000369740.1	+	10	1108	c.1005C>G	c.(1003-1005)ggC>ggG	p.G335G	CHIA_ENST00000343320.6_Silent_p.G335G|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Silent_p.G174G|CHIA_ENST00000483391.1_Silent_p.G174G|CHIA_ENST00000353665.6_Silent_p.G174G|CHIA_ENST00000430615.1_Silent_p.G227G	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	335					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGTGGGTTGGCTATGACAACA	0.473																																																0			1											140	130	134					1																	111861831		2203	4300	6503	111663354	SO:0001819	synonymous_variant	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1005C>G	1.37:g.111861831C>G			111663354	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	CCDS41368.1																																																																																				0.473	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			G	111861831	C	G	111861831	2	3	35	1	0	0	0	0	0	0	0	1	3342	784	28	3		3	CHIA	1	111861831	Silent	SNP	C	TCGA-04-1652-01A-01W-0639-09	79712235	111861831	137388790	2	1733											
HAO2	51179	genome.wustl.edu	37	1	119936413	119936413	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr1:119936413C>T	ENST00000325945.3	+	8	1079	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000361035.4_Missense_Mutation_p.R349W	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	336	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.R336W(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TTTAGGCTGCCGGTCGGTCGC	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											213	194	200					1																	119936413		2203	4300	6503	119737936	SO:0001583	missense	51179			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.1006C>T	1.37:g.119936413C>T	ENSP00000316339:p.Arg336Trp		119737936	Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187497	0.38609	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	T;T	0.33216	1.42;1.42	4.66	2.71	0.32032	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.384931	0.26673	N	0.023082	T	0.22475	0.0542	M	0.87547	2.89	0.49483	D	0.999795	P	0.35793	0.521	B	0.33254	0.16	T	0.06972	-1.0797	9	.	.	.	-9.7153	11.4768	0.50302	0.3256:0.6744:0.0:0.0	.	336	Q9NYQ3	HAOX2_HUMAN	W	349;336	ENSP00000354314:R349W;ENSP00000316339:R336W	.	R	+	1	2	HAO2	119737936	1.000000	0.71417	0.971000	0.41717	0.715000	0.41141	1.776000	0.38594	0.647000	0.30713	0.563000	0.77884	CGG		0.483	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		T	119936413	C	T	119936413	3	4	35	1	0	0	0	0	1	0	0	0	6952	643	23	1	1032	1	HAO2	1	119936413	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	8074582	119936413	129314208	3	1734											
NES	10763	genome.wustl.edu	37	1	156641684	156641684	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr1:156641684G>A	ENST00000368223.3	-	4	2428	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	766	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGACCTCCGTCGCTGTTGA	0.448																																																0			1											85	86	86					1																	156641684		2203	4300	6503	154908308	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2296C>T	1.37:g.156641684G>A	ENSP00000357206:p.Arg766Trp		154908308	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519812	0.27211	.	.	ENSG00000132688	ENST00000368223	D	0.85339	-1.97	4.85	-0.342	0.12635	.	.	.	.	.	T	0.45756	0.1358	N	0.08118	0	0.09310	N	1	P	0.39116	0.66	B	0.32805	0.153	T	0.44421	-0.9329	9	0.87932	D	0	.	4.528	0.11990	0.4513:0.164:0.3847:0.0	.	766	P48681	NEST_HUMAN	W	766	ENSP00000357206:R766W	ENSP00000357206:R766W	R	-	1	2	NES	154908308	0.000000	0.05858	0.001000	0.08648	0.181000	0.23173	-0.151000	0.10175	-0.029000	0.13827	0.563000	0.77884	CGG		0.448	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		A	156641684	G	A	156641684	3	1	35	1	0	0	0	0	1	0	0	0	10337	1144	40	1	2573	1	NES	1	156641684	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	36705271	156641684	92608937	4	1735											
SLC5A7	60482	genome.wustl.edu	37	2	108626706	108626706	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr2:108626706G>A	ENST00000264047.2	+	9	1408	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	SLC5A7_ENST00000540517.1_Missense_Mutation_p.V273I|SLC5A7_ENST00000409059.1_Missense_Mutation_p.V378I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	378					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.V378I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAAGAAATCGTTTGGGTTAT	0.443																																																2	Substitution - Missense(2)	ovary(1)|pancreas(1)	2											148	120	129					2																	108626706		2203	4300	6503	107993138	SO:0001583	missense	60482			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1132G>A	2.37:g.108626706G>A	ENSP00000264047:p.Val378Ile		107993138	Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953064	0.18431	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.89050	-2.46;-2.46;-2.46	5.85	2.92	0.33932	.	0.168277	0.51477	N	0.000083	T	0.79724	0.4495	N	0.25647	0.755	0.49915	D	0.999832	B	0.06786	0.001	B	0.10450	0.005	T	0.70360	-0.4893	10	0.31617	T	0.26	-25.0208	8.2684	0.31829	0.1388:0.0:0.7353:0.1259	.	378	Q9GZV3	SC5A7_HUMAN	I	378;273;378	ENSP00000387346:V378I;ENSP00000445351:V273I;ENSP00000264047:V378I	ENSP00000264047:V378I	V	+	1	0	SLC5A7	107993138	1.000000	0.71417	0.256000	0.24389	0.798000	0.45092	4.104000	0.57790	0.773000	0.33404	-0.143000	0.13931	GTT		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			A	108626706	G	A	108626706	3	1	35	1	0	0	0	0	1	0	0	0	14673	1145	40	1	1162	1	SLC5A7	2	108626706	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09		108626706	134572667	5	1736											
LRP1B	53353	genome.wustl.edu	37	2	141200193	141200193	+	Splice_Site	SNP	C	C	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr2:141200193C>T	ENST00000389484.3	-	66	11266		c.e66-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGTTTTCAGCTTAGAAAGAA	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0			2											82	84	84					2																	141200193		2203	4300	6503	140916663	SO:0001630	splice_region_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10295-1G>A	2.37:g.141200193C>T			140916663	Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.886153	0.91814	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3366	0.94322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140916663	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.463000	0.73530	2.551000	0.86045	0.650000	0.86243	.		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	T	141200193	C	T	141200193	5	4	35	1	0	0	0	0	0	0	1	0	8955	811	28	2	3609	2	LRP1B	2	141200193	Splice_Site	SNP	C	TCGA-04-1652-01A-01W-0639-09	32573487	141200193	101999180	6	1737											
SCN3A	6328	genome.wustl.edu	37	2	166011145	166011145	+	Silent	SNP	T	T	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr2:166011145T>A	ENST00000360093.3	-	11	1688	c.1197A>T	c.(1195-1197)acA>acT	p.T399T	SCN3A_ENST00000283254.7_Silent_p.T399T|SCN3A_ENST00000409101.3_Silent_p.T399T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	399					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATATCATGTATGTTTTCCCAG	0.403																																																0			2											62	62	62					2																	166011145		2203	4300	6503	165719391	SO:0001819	synonymous_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1197A>T	2.37:g.166011145T>A			165719391	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		A	166011145	T	A	166011145	2	1	35	1	0	0	0	0	0	0	0	1	13921	1451	51	5		5	SCN3A	2	166011145	Silent	SNP	T	TCGA-04-1652-01A-01W-0639-09	24810952	166011145	77188228	7	1738											
TRAK2	66008	genome.wustl.edu	37	2	202262943	202262943	+	Silent	SNP	T	T	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr2:202262943T>C	ENST00000332624.3	-	6	1043	c.615A>G	c.(613-615)caA>caG	p.Q205Q	TRAK2_ENST00000430254.1_Silent_p.Q205Q	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	205	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GCAGCAACCCTTGAGATAAGC	0.423																																																0			2											125	124	124					2																	202262943		2203	4300	6503	201971188	SO:0001819	synonymous_variant	66008			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.615A>G	2.37:g.202262943T>C			201971188	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Silent	SNP	ENST00000332624.3	37	CCDS2347.1																																																																																				0.423	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		C	202262943	T	C	202262943	2	2	35	1	0	0	0	0	0	0	0	1	16450	1606	56	4		4	TRAK2	2	202262943	Silent	SNP	T	TCGA-04-1652-01A-01W-0639-09	36251798	202262943	40936430	8	1739											
KBTBD5	131377	genome.wustl.edu	37	3	42729685	42729685	+	Missense_Mutation	SNP	C	C	T	rs149076152		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr3:42729685C>T	ENST00000287777.4	+	2	1304	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	402					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GCCCTCGCCCCGCTGCCTCTT	0.642																																																0			3						C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	49	49	49		1204	5	1	3	dbSNP_134	49	0,8600		0,0,4300	no	missense	KBTBD5	NM_152393.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	402/622	42729685	1,13005	2203	4300	6503	42704689	SO:0001583	missense	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1204C>T	3.37:g.42729685C>T	ENSP00000287777:p.Arg402Cys		42704689	Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652963	0.88056	2.27E-4	0.0	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.79554	-1.28	4.98	4.98	0.66077	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92056	0.5652	10	0.87932	D	0	.	18.2333	0.89941	0.0:1.0:0.0:0.0	.	402	Q2TBA0	KBTB5_HUMAN	C	402;147	ENSP00000287777:R402C	ENSP00000287777:R402C	R	+	1	0	KBTBD5	42704689	1.000000	0.71417	0.994000	0.49952	0.745000	0.42441	4.780000	0.62382	2.296000	0.77279	0.455000	0.32223	CGC		0.642	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		T	42729685	C	T	42729685	3	4	35	1	0	0	0	0	1	0	0	0	7996	652	23	1	1210	1	KBTBD5	3	42729685	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09		42729685	155292745	9	1740											
XCR1	2829	genome.wustl.edu	37	3	46063343	46063343	+	Missense_Mutation	SNP	C	C	T	rs140218706		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr3:46063343C>T	ENST00000309285.3	-	2	453	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	XCR1_ENST00000542109.1_Missense_Mutation_p.A33T	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	33					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGTGGTGGCGAGGGTAGCA	0.567																																																0			3						C	THR/ALA,THR/ALA	0,4406		0,0,2203	104	100	102		97,97	-5.3	0	3	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	XCR1	NM_001024644.1,NM_005283.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	33/334,33/334	46063343	1,13005	2203	4300	6503	46038347	SO:0001583	missense	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.97G>A	3.37:g.46063343C>T	ENSP00000310405:p.Ala33Thr		46038347		Missense_Mutation	SNP	ENST00000309285.3	37	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	C	1.726	-0.495405	0.04291	0.0	1.16E-4	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.37584	1.19;1.19	5.03	-5.27	0.02763	.	1.580970	0.03170	N	0.170630	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.14420	-1.0473	10	0.59425	D	0.04	.	1.1447	0.01772	0.4247:0.1473:0.1295:0.2985	.	33	P46094	XCR1_HUMAN	T	33	ENSP00000310405:A33T;ENSP00000438119:A33T	ENSP00000310405:A33T	A	-	1	0	XCR1	46038347	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.002000	0.13061	-0.746000	0.04766	-1.128000	0.01989	GCC		0.567	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			T	46063343	C	T	46063343	3	4	35	1	0	0	0	0	1	0	0	0	17425	768	27	1	908	1	XCR1	3	46063343	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	3333658	46063343	151959087	10	1741											
LRRC2	79442	genome.wustl.edu	37	3	46571464	46571464	+	Missense_Mutation	SNP	C	C	T	rs148660546		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr3:46571464C>T	ENST00000395905.3	-	6	1096	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	LRRC2_ENST00000296144.3_Missense_Mutation_p.R235Q	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	235										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATTCGACATCCGCAGGACACA	0.403																																																0			3						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	102	93	96		704	5.3	1	3	dbSNP_134	96	0,8600		0,0,4300	no	missense	LRRC2	NM_024512.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	235/372	46571464	1,13005	2203	4300	6503	46546468	SO:0001583	missense	79442			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.704G>A	3.37:g.46571464C>T	ENSP00000379241:p.Arg235Gln		46546468	B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058481	0.93846	2.27E-4	0.0	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.56941	0.43;0.43	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000005	T	0.59404	0.2191	L	0.37750	1.13	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.50145	-0.8862	10	0.06236	T	0.91	.	16.8744	0.86047	0.0:1.0:0.0:0.0	.	235	Q9BYS8	LRRC2_HUMAN	Q	235	ENSP00000379241:R235Q;ENSP00000296144:R235Q	ENSP00000296144:R235Q	R	-	2	0	LRRC2	46546468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.115000	0.77110	2.653000	0.90120	0.655000	0.94253	CGG		0.403	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			T	46571464	C	T	46571464	3	4	35	1	0	0	0	0	1	0	0	0	8976	652	23	1	427	1	LRRC2	3	46571464	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	508121	46571464	151450966	11	1742											
CCDC51	79714	genome.wustl.edu	37	3	48476261	48476261	+	Missense_Mutation	SNP	T	T	C	rs113958192		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr3:48476261T>C	ENST00000395694.2	-	2	363	c.278A>G	c.(277-279)aAc>aGc	p.N93S	CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000395696.1_Missense_Mutation_p.N93S|CCDC51_ENST00000412398.2_5'UTR	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	93						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCGAACCTCGTTGAGTCCAAC	0.597																																																0			3						T	SER/ASN	0,4002		0,0,2001	78	82	81		278	-5.7	0.6	3	dbSNP_132	81	12,8336		0,12,4162	yes	missense	CCDC51	NM_024661.3	46	0,12,6163	CC,CT,TT		0.1437,0.0,0.0972	benign	93/412	48476261	12,12338	2001	4174	6175	48451265	SO:0001583	missense	79714			AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.278A>G	3.37:g.48476261T>C	ENSP00000379047:p.Asn93Ser		48451265	Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	T	9.017	0.983845	0.18889	0.0	0.001437	ENSG00000164051	ENST00000395694;ENST00000395696;ENST00000446140	T;T;T	0.28895	1.59;1.59;1.59	4.91	-5.68	0.02436	.	0.380247	0.30791	N	0.008863	T	0.13543	0.0328	L	0.33189	0.99	0.31065	N	0.713632	B	0.06786	0.001	B	0.09377	0.004	T	0.33929	-0.9849	10	0.11794	T	0.64	1.1593	5.1219	0.14865	0.2291:0.3731:0.0:0.3978	.	93	Q96ER9	CCD51_HUMAN	S	93	ENSP00000379047:N93S;ENSP00000379049:N93S;ENSP00000409494:N93S	ENSP00000379047:N93S	N	-	2	0	CCDC51	48451265	0.436000	0.25586	0.582000	0.28627	0.934000	0.57294	-0.114000	0.10757	-1.212000	0.02620	-0.558000	0.04189	AAC		0.597	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		C	48476261	T	C	48476261	3	2	35	1	0	0	0	0	1	0	0	0	2821	1725	60	4	969	4	CCDC51	3	48476261	Missense_Mutation	SNP	T	TCGA-04-1652-01A-01W-0639-09	1904797	48476261	149546169	12	1743											
DTX3L	151636	genome.wustl.edu	37	3	122288593	122288593	+	Silent	SNP	C	C	T	rs201919153		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr3:122288593C>T	ENST00000296161.4	+	3	1846	c.1657C>T	c.(1657-1659)Ctg>Ttg	p.L553L	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	553					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGCCTCAGAACTGGACAAGAA	0.463																																																0			3											75	77	77					3																	122288593		2203	4300	6503	123771283	SO:0001819	synonymous_variant	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1657C>T	3.37:g.122288593C>T			123771283	B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	CCDS3015.1																																																																																				0.463	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		T	122288593	C	T	122288593	2	4	35	1	0	0	0	0	0	0	0	1	4796	564	20	2		2	DTX3L	3	122288593	Silent	SNP	C	TCGA-04-1652-01A-01W-0639-09	73812332	122288593	75733837	13	1744											
MUC20	200958	genome.wustl.edu	37	3	195453036	195453036	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr3:195453036C>T	ENST00000447234.2	+	2	1688	c.1562C>T	c.(1561-1563)gCt>gTt	p.A521V	MUC20_ENST00000445522.2_Missense_Mutation_p.A486V|MUC20_ENST00000436408.1_Missense_Mutation_p.A521V|MUC20_ENST00000320736.6_Missense_Mutation_p.A350V	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	521	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTCAGTGGAGCTCTGGTCACA	0.572																																																0			3											58	57	57					3																	195453036		2105	4209	6314	196938707	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1562C>T	3.37:g.195453036C>T	ENSP00000414350:p.Ala521Val		196938707	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		.	.	.	.	.	.	.	.	.	.	C	13.54	2.266659	0.40095	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.14893	2.89;2.89;3.06;2.47	3.97	-0.0788	0.13713	.	0.452872	0.18875	N	0.128738	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.29852	-0.9998	10	0.29301	T	0.29	3.025	2.8327	0.05505	0.2223:0.5111:0.1661:0.1005	.	350	E9PH32	.	V	521;350;521;486	ENSP00000414350:A521V;ENSP00000325431:A350V;ENSP00000396774:A521V;ENSP00000405629:A486V	ENSP00000325431:A350V	A	+	2	0	MUC20	196938707	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.053000	0.11846	-0.136000	0.11475	-0.346000	0.07831	GCT		0.572	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		T	195453036	C	T	195453036	3	4	35	1	0	0	0	0	1	0	0	0	9976	797	28	2	1059	2	MUC20	3	195453036	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	73164443	195453036	2569394	14	1745											
PPARGC1A	10891	genome.wustl.edu	37	4	23816029	23816029	+	Silent	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr4:23816029G>A	ENST00000264867.2	-	8	1196	c.1077C>T	c.(1075-1077)agC>agT	p.S359S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	359	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTGAGGACTTGCTGAGTTGTG	0.512																																					Esophageal Squamous(29;694 744 13796 34866 44181)											0			4											119	122	121					4																	23816029		2203	4300	6503	23425127	SO:0001819	synonymous_variant	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1077C>T	4.37:g.23816029G>A			23425127	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																				0.512	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		A	23816029	G	A	23816029	2	1	35	1	0	0	0	0	0	0	0	1	12300	1310	46	2		2	PPARGC1A	4	23816029	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09		23816029	167338247	15	1746											
CDH9	1007	genome.wustl.edu	37	5	26881572	26881572	+	Silent	SNP	C	C	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr5:26881572C>T	ENST00000231021.4	-	12	2215	c.2043G>A	c.(2041-2043)gaG>gaA	p.E681E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	681					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCTCTTGCCTCTGGATTCC	0.438																																					Melanoma(8;187 585 15745 40864 52829)											0			5											195	189	191					5																	26881572		2203	4300	6503	26917329	SO:0001819	synonymous_variant	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2043G>A	5.37:g.26881572C>T			26917329	Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																				0.438	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26881572	C	T	26881572	2	4	35	1	0	0	0	0	0	0	0	1	3117	680	24	2		2	CDH9	5	26881572	Silent	SNP	C	TCGA-04-1652-01A-01W-0639-09		26881572	154033688	16	1747											
RGS7BP	401190	genome.wustl.edu	37	5	63802571	63802571	+	Silent	SNP	C	C	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr5:63802571C>T	ENST00000334025.2	+	1	446	c.120C>T	c.(118-120)tcC>tcT	p.S40S	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	40					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GCAGCGGCTCCGAGAGCGCCC	0.607																																																0			5											34	48	43					5																	63802571		2203	4300	6503	63838327	SO:0001819	synonymous_variant	401190			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"regulator of G-protein signalling 7 binding protein"			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.120C>T	5.37:g.63802571C>T			63838327	B7Z3X1	Silent	SNP	ENST00000334025.2	37	CCDS34170.1																																																																																				0.607	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		T	63802571	C	T	63802571	2	4	35	1	0	0	0	0	0	0	0	1	13314	639	23	1		1	RGS7BP	5	63802571	Silent	SNP	C	TCGA-04-1652-01A-01W-0639-09	36920999	63802571	117112689	17	1748											
ANKRD34B	340120	genome.wustl.edu	37	5	79855106	79855106	+	Missense_Mutation	SNP	C	C	T	rs376632230		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr5:79855106C>T	ENST00000338682.3	-	5	1405	c.733G>A	c.(733-735)Gct>Act	p.A245T		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	245						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAGGGTGGAGCGTGGGGGAGC	0.527																																																0			5						C	THR/ALA	1,4405		0,1,2202	41	46	44		733	4.7	0.2	5		44	0,8598		0,0,4299	no	missense	ANKRD34B	NM_001004441.2	58	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	245/515	79855106	1,13003	2203	4299	6502	79890862	SO:0001583	missense	340120				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.733G>A	5.37:g.79855106C>T	ENSP00000339802:p.Ala245Thr		79890862	B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	C	8.465	0.856298	0.17106	2.27E-4	0.0	ENSG00000189127	ENST00000338682	T	0.19938	2.11	5.6	4.7	0.59300	.	0.184455	0.34802	U	0.003667	T	0.18130	0.0435	L	0.51422	1.61	0.27961	N	0.936774	P	0.41710	0.76	B	0.28553	0.091	T	0.10636	-1.0621	10	0.72032	D	0.01	-8.3964	14.8838	0.70553	0.0:0.8556:0.1444:0.0	.	245	A5PLL1	AN34B_HUMAN	T	245	ENSP00000339802:A245T	ENSP00000339802:A245T	A	-	1	0	ANKRD34B	79890862	0.010000	0.17322	0.208000	0.23602	0.044000	0.14063	0.378000	0.20569	1.291000	0.44653	0.655000	0.94253	GCT		0.527	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		T	79855106	C	T	79855106	3	4	35	1	0	0	0	0	1	0	0	0	663	768	27	1	815	1	ANKRD34B	5	79855106	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	16052535	79855106	101060154	18	1749											
PCDHB12	56124	genome.wustl.edu	37	5	140589344	140589344	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr5:140589344C>T	ENST00000239450.2	+	1	1054	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAGATATTCGCAAGACATT	0.408																																																0			5											92	99	96					5																	140589344		2203	4300	6503	140569528	SO:0001583	missense	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.865C>T	5.37:g.140589344C>T	ENSP00000239450:p.Arg289Cys		140569528	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	4.335	0.061489	0.08339	.	.	ENSG00000120328	ENST00000239450	T	0.01767	4.65	4.06	0.839	0.18907	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03095	0.0091	M	0.79614	2.46	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.32903	-0.9889	9	0.51188	T	0.08	.	5.5555	0.17113	0.1424:0.6354:0.1383:0.084	.	289	Q9Y5F1	PCDBC_HUMAN	C	289	ENSP00000239450:R289C	ENSP00000239450:R289C	R	+	1	0	PCDHB12	140569528	0.000000	0.05858	0.866000	0.34008	0.396000	0.30629	-2.117000	0.01326	0.283000	0.22279	0.491000	0.48974	CGC		0.408	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		T	140589344	C	T	140589344	3	4	35	1	0	0	0	0	1	0	0	0	11537	884	31	1	867	1	PCDHB12	5	140589344	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	60734238	140589344	40325916	19	1750											
PCDHGB2	56103	genome.wustl.edu	37	5	140740782	140740782	+	Silent	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr5:140740782G>A	ENST00000522605.1	+	1	1080	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	360	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGGATTCGCCACCAGGAA	0.443																																																0			5											76	79	78					5																	140740782		2124	4257	6381	140720966	SO:0001819	synonymous_variant	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1080G>A	5.37:g.140740782G>A			140720966	Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	CCDS54924.1																																																																																				0.443	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		A	140740782	G	A	140740782	2	1	35	1	0	0	0	0	0	0	0	1	11563	1074	38	1		1	PCDHGB2	5	140740782	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09	151438	140740782	40174478	20	1751											
NMUR2	56923	genome.wustl.edu	37	5	151784307	151784307	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr5:151784307G>A	ENST00000255262.3	-	1	533	c.368C>T	c.(367-369)aCg>aTg	p.T123M	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	123					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AAAGAGGGCCGTCTTGAAGTA	0.602																																																0			5											73	77	75					5																	151784307		2203	4300	6503	151764500	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.368C>T	5.37:g.151784307G>A	ENSP00000255262:p.Thr123Met		151764500	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654628	0.88056	.	.	ENSG00000132911	ENST00000255262	T	0.36340	1.26	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60281	-0.7294	10	0.62326	D	0.03	-14.1383	18.4906	0.90846	0.0:0.0:1.0:0.0	.	123	Q9GZQ4	NMUR2_HUMAN	M	123	ENSP00000255262:T123M	ENSP00000255262:T123M	T	-	2	0	NMUR2	151764500	1.000000	0.71417	0.956000	0.39512	0.968000	0.65278	9.507000	0.97996	2.607000	0.88179	0.655000	0.94253	ACG		0.602	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		A	151784307	G	A	151784307	3	1	35	1	0	0	0	0	1	0	0	0	10507	1145	40	1	895	1	NMUR2	5	151784307	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	11043525	151784307	29130953	21	1752											
ADAMTS2	9509	genome.wustl.edu	37	5	178579154	178579154	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr5:178579154C>A	ENST00000251582.7	-	10	1719	c.1618G>T	c.(1618-1620)Gca>Tca	p.A540S	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A540S	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	540	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGCCAGGTGCACACATAGTC	0.612																																																0			5											57	53	54					5																	178579154		2203	4300	6503	178511760	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1618G>T	5.37:g.178579154C>A	ENSP00000251582:p.Ala540Ser		178511760		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191377	0.21954	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.59772	0.27;0.24	5.35	4.47	0.54385	.	0.000000	0.56097	D	0.000031	T	0.43010	0.1228	L	0.28458	0.855	0.37204	D	0.9045	P;B	0.36683	0.565;0.163	B;B	0.34385	0.181;0.069	T	0.50808	-0.8784	10	0.45353	T	0.12	.	10.3029	0.43663	0.1527:0.7001:0.1471:0.0	.	540;540	O95450-2;O95450	.;ATS2_HUMAN	S	540	ENSP00000251582:A540S;ENSP00000274609:A540S	ENSP00000251582:A540S	A	-	1	0	ADAMTS2	178511760	1.000000	0.71417	0.996000	0.52242	0.005000	0.04900	2.460000	0.45031	1.244000	0.43870	-0.314000	0.08810	GCA		0.612	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178579154	C	A	178579154	3	1	35	1	0	0	0	0	1	0	0	0	265	710	25	3	2144	3	ADAMTS2	5	178579154	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	26794847	178579154	2336106	22	1753											
NHLRC1	378884	genome.wustl.edu	37	6	18121872	18121872	+	Silent	SNP	G	G	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr6:18121872G>T	ENST00000340650.3	-	1	979	c.966C>A	c.(964-966)gcC>gcA	p.A322A		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	322					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TCACAGCGGAGGCAGTTATTT	0.483																																																0			6											92	86	88					6																	18121872		2203	4300	6503	18229851	SO:0001819	synonymous_variant	378884			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"epilepsy, progressive myoclonus type 2B"	608072	"NHL repeat containing 1"			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.966C>A	6.37:g.18121872G>T			18229851	Q3SYB1|Q5VUK7|Q6IMH1	Silent	SNP	ENST00000340650.3	37	CCDS4542.1																																																																																				0.483	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			T	18121872	G	T	18121872	2	4	35	1	0	0	0	0	0	0	0	1	10405	987	35	3		3	NHLRC1	6	18121872	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09		18121872	152993195	23	1754											
OR11A1	26531	genome.wustl.edu	37	6	29394497	29394497	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr6:29394497T>C	ENST00000377149.1	-	5	1394	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.I308V|OR11A1_ENST00000377148.1_Missense_Mutation_p.I308V			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GTTTGTTTGATACAGAGAATC	0.473																																																0			6											88	89	89					6																	29394497		1510	2708	4218	29502476	SO:0001583	missense	26531				CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.922A>G	6.37:g.29394497T>C	ENSP00000366354:p.Ile308Val		29502476	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	T	3.308	-0.141350	0.06669	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.36878	1.23;1.23;1.23	3.34	-3.38	0.04883	.	5.700120	0.00496	N	0.000148	T	0.05273	0.0140	N	0.11845	0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11717	-1.0576	10	0.32370	T	0.25	6.6602	0.812	0.01095	0.3944:0.1081:0.1533:0.3442	.	308	Q9GZK7	O11A1_HUMAN	V	308	ENSP00000366353:I308V;ENSP00000366354:I308V;ENSP00000366352:I308V	ENSP00000366352:I308V	I	-	1	0	OR11A1	29502476	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.019000	0.12546	-1.006000	0.03412	0.338000	0.21704	ATC		0.473	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			C	29394497	T	C	29394497	3	2	35	1	0	0	0	0	1	0	0	0	10924	1406	49	4	29	4	OR11A1	6	29394497	Missense_Mutation	SNP	T	TCGA-04-1652-01A-01W-0639-09	11272625	29394497	141720570	24	1755											
DLK2	65989	genome.wustl.edu	37	6	43418508	43418508	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr6:43418508C>A	ENST00000357338.3	-	6	1621	c.921G>T	c.(919-921)ttG>ttT	p.L307F	DLK2_ENST00000372488.3_Missense_Mutation_p.L307F|DLK2_ENST00000372485.1_Missense_Mutation_p.L301F|DLK2_ENST00000414245.1_Missense_Mutation_p.L301F	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	307					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCAGGGCCACCAAGCTAGGCT	0.687																																																0			6											78	77	77					6																	43418508		2203	4300	6503	43526486	SO:0001583	missense	65989			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.921G>T	6.37:g.43418508C>A	ENSP00000349893:p.Leu307Phe		43526486	B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.143192|2.143192	0.37825|0.37825	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245|ENST00000430324	D;D;D;D|.	0.91295|.	-2.82;-2.79;-2.79;-2.82|.	5.09|5.09	4.23|4.23	0.50019|0.50019	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.39937|0.39937	0.1097|0.1097	L|L	0.29908|0.29908	0.895|0.895	0.39826|0.39826	D|D	0.972906|0.972906	P|.	0.43938|.	0.822|.	B|.	0.36464|.	0.225|.	T|T	0.32771|0.32771	-0.9894|-0.9894	10|5	0.56958|.	D|.	0.05|.	.|.	15.071|15.071	0.72037|0.72037	0.1434:0.8566:0.0:0.0|0.1434:0.8566:0.0:0.0	.|.	307|.	Q6UY11|.	DLK2_HUMAN|.	F|L	301;307;307;301|213	ENSP00000361563:L301F;ENSP00000361566:L307F;ENSP00000349893:L307F;ENSP00000398906:L301F|.	ENSP00000349893:L307F|.	L|W	-|-	3|2	2|0	DLK2|DLK2	43526486|43526486	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.328000|0.328000	0.28507|0.28507	0.562000|0.562000	0.23531|0.23531	1.163000|1.163000	0.42636|0.42636	-0.360000|-0.360000	0.07572|0.07572	TTG|TGG		0.687	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		A	43418508	C	A	43418508	3	1	35	1	0	0	0	0	1	0	0	0	4565	593	21	3	234	3	DLK2	6	43418508	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	14024011	43418508	127696559	25	1756											
DST	667	genome.wustl.edu	37	6	56504791	56504791	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr6:56504791T>A	ENST00000361203.3	-	15	1929	c.1922A>T	c.(1921-1923)cAt>cTt	p.H641L	DST_ENST00000421834.2_Missense_Mutation_p.H641L|DST_ENST00000370788.2_Missense_Mutation_p.H641L|DST_ENST00000370765.6_Missense_Mutation_p.H315L|DST_ENST00000370769.4_Missense_Mutation_p.H641L|DST_ENST00000312431.6_Missense_Mutation_p.H641L|DST_ENST00000446842.2_Missense_Mutation_p.H315L|DST_ENST00000518935.1_Missense_Mutation_p.H315L|DST_ENST00000370754.5_Missense_Mutation_p.H819L|DST_ENST00000244364.6_Missense_Mutation_p.H315L			Q03001	DYST_HUMAN	dystonin	641					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACATTTTTATGATTTTCTAA	0.308																																																0			6											56	62	60					6																	56504791		2202	4300	6502	56612750	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1922A>T	6.37:g.56504791T>A	ENSP00000354508:p.His641Leu		56612750	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	25.2	4.615200	0.87359	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.45	5.45	0.79879	.	0.000000	0.51477	D	0.000096	D	0.95046	0.8396	M	0.75615	2.305	0.35442	D	0.794972	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.989;1.0;0.994;1.0;1.0;0.999;1.0;0.994;0.991	D;P;D;P;D;D;D;D;P;D	0.97110	0.999;0.838;0.999;0.838;0.989;0.996;0.99;1.0;0.885;0.976	D	0.95226	0.8338	9	0.56958	D	0.05	.	15.6785	0.77349	0.0:0.0:0.0:1.0	.	670;641;641;819;757;315;315;315;641;315	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	L	315;819;641;641;315;641;641;641;315;681;315;315	ENSP00000244364:H315L;ENSP00000359790:H819L;ENSP00000359805:H641L;ENSP00000400883:H641L;ENSP00000393645:H315L;ENSP00000307959:H641L;ENSP00000359824:H641L;ENSP00000354508:H641L;ENSP00000404924:H315L;ENSP00000431030:H681L;ENSP00000359801:H315L;ENSP00000431003:H315L	ENSP00000244364:H315L	H	-	2	0	DST	56612750	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.868000	0.87116	2.288000	0.76882	0.533000	0.62120	CAT		0.308	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56504791	T	A	56504791	3	1	35	1	0	0	0	0	1	0	0	0	4783	1464	51	5	19531	5	DST	6	56504791	Missense_Mutation	SNP	T	TCGA-04-1652-01A-01W-0639-09	13086283	56504791	114610276	26	1757											
MYO6	4646	genome.wustl.edu	37	6	76599898	76599898	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr6:76599898G>A	ENST00000369977.3	+	26	2922	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H	MYO6_ENST00000369975.1_Missense_Mutation_p.R928H|MYO6_ENST00000369981.3_Missense_Mutation_p.R928H|MYO6_ENST00000369985.4_Missense_Mutation_p.R928H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	928	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGGCTGAGGCGTATTCAAGAA	0.408																																																0			6											95	105	102					6																	76599898		2203	4300	6503	76656618	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2783G>A	6.37:g.76599898G>A	ENSP00000358994:p.Arg928His		76656618	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742839	0.49151	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.18657	2.2;2.52;2.52;2.2	5.98	3.9	0.45041	.	0.261207	0.38492	N	0.001678	T	0.05593	0.0147	N	0.13043	0.29	0.36381	D	0.861931	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.09530	-1.0670	10	0.62326	D	0.03	.	11.0654	0.47972	0.2172:0.0:0.7828:0.0	.	928;928	Q9UM54-2;Q9UM54-1	.;.	H	928	ENSP00000358998:R928H;ENSP00000359002:R928H;ENSP00000358994:R928H;ENSP00000358992:R928H	ENSP00000358992:R928H	R	+	2	0	MYO6	76656618	0.985000	0.35326	0.978000	0.43139	0.910000	0.53928	2.033000	0.41136	1.550000	0.49438	0.591000	0.81541	CGT		0.408	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		A	76599898	G	A	76599898	3	1	35	1	0	0	0	0	1	0	0	0	10081	1145	40	1	2881	1	MYO6	6	76599898	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	20095107	76599898	94515169	27	1758											
RBM16	22828	genome.wustl.edu	37	6	155145432	155145432	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr6:155145432C>G	ENST00000367178.3	+	17	2567	c.1991C>G	c.(1990-1992)cCg>cGg	p.P664R	SCAF8_ENST00000367186.4_Missense_Mutation_p.P730R|SCAF8_ENST00000417268.1_Missense_Mutation_p.P664R|RNU6-824P_ENST00000363724.1_RNA	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	664	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GTGTCGATGCCGGTTCCTCCT	0.453																																																0			6											195	191	192					6																	155145432		2203	4300	6503	155187124	SO:0001583	missense	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1991C>G	6.37:g.155145432C>G	ENSP00000356146:p.Pro664Arg		155187124	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059155	0.76074	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.53640	0.64;0.64;0.61	5.27	5.27	0.74061	.	0.379178	0.24917	U	0.034574	T	0.26521	0.0648	N	0.08118	0	0.36123	D	0.845599	B;D;D;D	0.60160	0.389;0.961;0.987;0.961	B;P;P;P	0.52424	0.084;0.579;0.698;0.579	T	0.08576	-1.0715	10	0.15066	T	0.55	.	18.8836	0.92367	0.0:1.0:0.0:0.0	.	709;730;742;664	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	R	664;664;730	ENSP00000356146:P664R;ENSP00000413098:P664R;ENSP00000356154:P730R	ENSP00000356146:P664R	P	+	2	0	SCAF8	155187124	1.000000	0.71417	0.941000	0.38009	0.964000	0.63967	5.660000	0.68018	2.454000	0.82982	0.650000	0.86243	CCG		0.453	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		G	155145432	C	G	155145432	3	3	35	1	0	0	0	0	1	0	0	0	13121	652	23	3	2057	3	RBM16	6	155145432	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	78545534	155145432	15969635	28	1759											
TTLL2	83887	genome.wustl.edu	37	6	167753659	167753659	+	Missense_Mutation	SNP	G	G	A	rs140657695	byFrequency	TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr6:167753659G>A	ENST00000239587.5	+	3	359	c.271G>A	c.(271-273)Gtt>Att	p.V91I		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	91	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.V91I(2)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGTTTTTCGCGTTGACGAGAC	0.512													G|||	3	0.000599042	0.0023	0	5008	,	,		19944	0		0	False		,,,				2504	0															2	Substitution - Missense(2)	large_intestine(1)|lung(1)	6						G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	53	54	53		271	1.5	0	6	dbSNP_134	53	0,8600		0,0,4300	yes	missense	TTLL2	NM_031949.4	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	91/593	167753659	3,13003	2203	4300	6503	167673649	SO:0001583	missense	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.271G>A	6.37:g.167753659G>A	ENSP00000239587:p.Val91Ile		167673649	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	G	4.623	0.115827	0.08831	6.81E-4	0.0	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02472	4.28	3.37	1.46	0.22682	.	0.760646	0.11193	N	0.589623	T	0.00608	0.0020	L	0.41415	1.275	0.09310	N	1	P	0.40107	0.703	B	0.23716	0.048	T	0.48927	-0.8991	10	0.33940	T	0.23	.	2.4826	0.04591	0.1111:0.3068:0.4117:0.1704	.	91	Q9BWV7	TTLL2_HUMAN	I	91;18	ENSP00000239587:V91I	ENSP00000239587:V91I	V	+	1	0	TTLL2	167673649	0.046000	0.20272	0.000000	0.03702	0.006000	0.05464	1.637000	0.37155	0.218000	0.20820	0.484000	0.47621	GTT		0.512	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		A	167753659	G	A	167753659	3	1	35	1	0	0	0	0	1	0	0	0	16727	1145	40	1	281	1	TTLL2	6	167753659	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	12608227	167753659	3361408	29	1760											
DNAH11	8701	genome.wustl.edu	37	7	21784163	21784163	+	Silent	SNP	A	A	G			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr7:21784163A>G	ENST00000409508.3	+	50	8293	c.8262A>G	c.(8260-8262)aaA>aaG	p.K2754K	DNAH11_ENST00000328843.6_Silent_p.K2761K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2761					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGACAAAAAAGATTGTGATT	0.363									Kartagener syndrome																																							0			7											127	123	125					7																	21784163		1840	4099	5939	21750688	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8262A>G	7.37:g.21784163A>G			21750688	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37																																																																																					0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		G	21784163	A	G	21784163	2	3	35	1	0	0	0	0	0	0	0	1	4599	69	3	4		4	DNAH11	7	21784163	Silent	SNP	A	TCGA-04-1652-01A-01W-0639-09		21784163	137354500	30	1761											
NEUROD6	63974	genome.wustl.edu	37	7	31378576	31378576	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr7:31378576C>T	ENST00000297142.3	-	2	629	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	103	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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 positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGTTCCTCTCGCGCGCGTTC	0.473																																																0			7											217	213	214					7																	31378576		2203	4300	6503	31345101	SO:0001583	missense	63974			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.307G>A	7.37:g.31378576C>T	ENSP00000297142:p.Glu103Lys		31345101	Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664406	0.88251	.	.	ENSG00000164600	ENST00000297142	D	0.99730	-6.56	5.46	5.46	0.80206	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97340	3.985	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.96669	0.9495	10	0.87932	D	0	-7.743	19.3174	0.94220	0.0:1.0:0.0:0.0	.	103	Q96NK8	NDF6_HUMAN	K	103	ENSP00000297142:E103K	ENSP00000297142:E103K	E	-	1	0	NEUROD6	31345101	1.000000	0.71417	0.953000	0.39169	0.953000	0.61014	7.770000	0.85390	2.569000	0.86673	0.650000	0.86243	GAG		0.473	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		T	31378576	C	T	31378576	3	4	35	1	0	0	0	0	1	0	0	0	10351	893	31	1	710	1	NEUROD6	7	31378576	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	9594413	31378576	127760087	31	1762											
PDE1C	5137	genome.wustl.edu	37	7	31918700	31918700	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr7:31918700G>A	ENST00000396191.1	-	4	789	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	PDE1C_ENST00000396182.2_Missense_Mutation_p.R112W|PDE1C_ENST00000321453.7_Missense_Mutation_p.R112W|PDE1C_ENST00000396184.3_Missense_Mutation_p.R112W|PDE1C_ENST00000396193.1_Missense_Mutation_p.R172W	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	112					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCCATCTGCCGCGTGAAGGTG	0.557																																																0			7											103	92	96					7																	31918700		2203	4300	6503	31885225	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.334C>T	7.37:g.31918700G>A	ENSP00000379494:p.Arg112Trp		31885225	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060875	0.76074	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.76316	-0.99;-1.01;-1.01;-0.96;-0.96	5.72	1.46	0.22682	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.063961	0.64402	D	0.000006	D	0.87366	0.6159	M	0.82056	2.57	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	D	0.88426	0.3032	10	0.87932	D	0	.	15.0182	0.71605	0.0:0.0:0.4909:0.5091	.	112;172;112	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	W	172;112;112;112;112	ENSP00000379496:R172W;ENSP00000379494:R112W;ENSP00000318105:R112W;ENSP00000379487:R112W;ENSP00000379485:R112W	ENSP00000318105:R112W	R	-	1	2	PDE1C	31885225	0.728000	0.28080	0.367000	0.25926	0.870000	0.49936	0.908000	0.28545	0.260000	0.21731	0.655000	0.94253	CGG		0.557	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			A	31918700	G	A	31918700	3	1	35	1	0	0	0	0	1	0	0	0	11635	1086	38	1	1626	1	PDE1C	7	31918700	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	540124	31918700	127219963	32	1763											
ZCWPW1	55063	genome.wustl.edu	37	7	100013927	100013927	+	Splice_Site	SNP	C	C	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr7:100013927C>T	ENST00000398027.2	-	7	879		c.e7+1		ZCWPW1_ENST00000360951.4_Splice_Site|ZCWPW1_ENST00000324725.6_Splice_Site|ZCWPW1_ENST00000490721.1_Splice_Site	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1								zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTGTACTTACGAGCTTCCTT	0.463																																																0			7											128	120	123					7																	100013927		1863	4100	5963	99851863	SO:0001630	splice_region_variant	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.631+1G>A	7.37:g.100013927C>T			99851863	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Splice_Site	SNP	ENST00000398027.2	37	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929897	0.52759	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7428	0.69469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCWPW1	99851863	0.995000	0.38212	0.991000	0.47740	0.605000	0.37080	3.705000	0.54823	2.603000	0.88011	0.655000	0.94253	.		0.463	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	Intron	T	100013927	C	T	100013927	5	4	35	1	0	0	0	0	0	0	1	0	17597	550	19	1	1362	1	ZCWPW1	7	100013927	Splice_Site	SNP	C	TCGA-04-1652-01A-01W-0639-09	68095227	100013927	59124736	33	1764											
PTPRZ1	5803	genome.wustl.edu	37	7	121651696	121651696	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr7:121651696G>T	ENST00000393386.2	+	12	3007	c.2596G>T	c.(2596-2598)Gat>Tat	p.D866Y	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	866					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGCTGGGGGTGATTTGCTATT	0.488																																																0			7											79	77	78					7																	121651696		2203	4300	6503	121438932	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2596G>T	7.37:g.121651696G>T	ENSP00000377047:p.Asp866Tyr		121438932	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956510	0.34565	.	.	ENSG00000106278	ENST00000393386	T	0.54479	0.57	5.71	4.82	0.62117	.	0.217021	0.40908	D	0.000994	T	0.54143	0.1840	M	0.67953	2.075	0.80722	D	1	P	0.45986	0.87	P	0.44732	0.459	T	0.59563	-0.7431	10	0.87932	D	0	.	10.134	0.42695	0.0711:0.138:0.7909:0.0	.	866	P23471	PTPRZ_HUMAN	Y	866	ENSP00000377047:D866Y	ENSP00000377047:D866Y	D	+	1	0	PTPRZ1	121438932	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	4.369000	0.59511	1.383000	0.46405	0.650000	0.86243	GAT		0.488	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121651696	G	T	121651696	3	4	35	1	0	0	0	0	1	0	0	0	12817	1290	45	3	2642	3	PTPRZ1	7	121651696	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	21637769	121651696	37486967	34	1765											
DPP6	1804	genome.wustl.edu	37	7	154561239	154561239	+	Silent	SNP	C	C	T	rs371237236		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr7:154561239C>T	ENST00000377770.3	+	9	1137	c.996C>T	c.(994-996)acC>acT	p.T332T	DPP6_ENST00000332007.3_Silent_p.T270T|DPP6_ENST00000404039.1_Silent_p.T268T|DPP6_ENST00000427557.1_Silent_p.T225T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	332					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAACTTACACCGGCTCCATCT	0.547																																					NSCLC(125;1384 1783 2490 7422 34254)											0			7						C	,,	0,3976		0,0,1988	51	51	51		450,369,369	-10.6	0.1	7		51	1,8299		0,1,4149	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	,,	0,1,6137	TT,TC,CC		0.012,0.0,0.0081	,,	150/684,123/657,123/657	154561239	1,12275	1988	4150	6138	154192172	SO:0001819	synonymous_variant	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.996C>T	7.37:g.154561239C>T			154192172		Silent	SNP	ENST00000377770.3	37																																																																																					0.547	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		T	154561239	C	T	154561239	2	4	35	1	0	0	0	0	0	0	0	1	4730	639	23	1		1	DPP6	7	154561239	Silent	SNP	C	TCGA-04-1652-01A-01W-0639-09	32909543	154561239	4577424	35	1766											
CSMD1	64478	genome.wustl.edu	37	8	2832112	2832112	+	Silent	SNP	G	G	A	rs368720706		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr8:2832112G>A	ENST00000520002.1	-	57	9159	c.8604C>T	c.(8602-8604)aaC>aaT	p.N2868N	CSMD1_ENST00000602723.1_Silent_p.N2810N|CSMD1_ENST00000537824.1_Silent_p.N2867N|CSMD1_ENST00000400186.3_Silent_p.N2810N|CSMD1_ENST00000542608.1_Silent_p.N2809N|CSMD1_ENST00000602557.1_Silent_p.N2868N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2868	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.N2596N(1)|p.N2867N(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)		TGAGGACGGCGTTGGCAGGGA	0.507																																																2	Substitution - coding silent(2)	large_intestine(2)	8						G		0,3942		0,0,1971	37	40	39		8601	-7.7	0.3	8		39	1,8281		0,1,4140	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6111	AA,AG,GG		0.0121,0.0,0.0082		2867/3565	2832112	1,12223	1971	4141	6112	2819519	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.8604C>T	8.37:g.2832112G>A			2819519	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	0.864	-0.734195	0.03111	0.0	1.21E-4	ENSG00000183117	ENST00000335551	.	.	.	5.81	-7.67	0.01272	.	.	.	.	.	T	0.48502	0.1503	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54781	-0.8242	4	.	.	.	.	9.1371	0.36881	0.4365:0.0:0.4628:0.1006	.	.	.	.	C	2285	.	.	R	-	1	0	CSMD1	2819519	0.999000	0.42202	0.322000	0.25334	0.010000	0.07245	0.897000	0.28390	-1.197000	0.02673	-1.021000	0.02439	CGC		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2832112	G	A	2832112	2	1	35	1	0	0	0	0	0	0	0	1	3944	1136	40	1		1	CSMD1	8	2832112	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09		2832112	143531910	36	1767											
CYP7B1	9420	genome.wustl.edu	37	8	65537058	65537058	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr8:65537058G>T	ENST00000310193.3	-	2	334	c.161C>A	c.(160-162)cCt>cAt	p.P54H		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	54					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCCAAGATAAGGAAGCCAACC	0.373																																																0			8											132	129	130					8																	65537058		2203	4300	6503	65699612	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.161C>A	8.37:g.65537058G>T	ENSP00000310721:p.Pro54His		65699612	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736814	0.89482	.	.	ENSG00000172817	ENST00000310193	T	0.74209	-0.82	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	M	0.86502	2.82	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.90045	0.4145	10	0.87932	D	0	-33.5436	19.678	0.95945	0.0:0.0:1.0:0.0	.	54	O75881	CP7B1_HUMAN	H	54	ENSP00000310721:P54H	ENSP00000310721:P54H	P	-	2	0	CYP7B1	65699612	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.544000	0.82117	2.653000	0.90120	0.591000	0.81541	CCT		0.373	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			T	65537058	G	T	65537058	3	4	35	1	0	0	0	0	1	0	0	0	4197	1000	35	3	1379	3	CYP7B1	8	65537058	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	62704946	65537058	80826964	37	1768											
FREM1	158326	genome.wustl.edu	37	9	14770702	14770702	+	Missense_Mutation	SNP	G	G	A	rs373186602		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr9:14770702G>A	ENST00000380880.3	-	26	5743	c.4960C>T	c.(4960-4962)Cgc>Tgc	p.R1654C	FREM1_ENST00000380894.1_Missense_Mutation_p.R190C|FREM1_ENST00000422223.2_Missense_Mutation_p.R1654C|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380881.4_Missense_Mutation_p.R1655C			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1654					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.R67S(1)|p.R1655S(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCAACACGCGGGAAGTGATG	0.473																																																2	Substitution - Missense(2)	lung(2)	9						G	CYS/ARG,CYS/ARG	1,3921		0,1,1960	134	128	130		568,4960	5.8	1	9		130	0,8300		0,0,4150	no	missense,missense	FREM1	NM_001177704.1,NM_144966.5	180,180	0,1,6110	AA,AG,GG		0.0,0.0255,0.0082	possibly-damaging,possibly-damaging	190/716,1654/2180	14770702	1,12221	1961	4150	6111	14760702	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4960C>T	9.37:g.14770702G>A	ENSP00000370262:p.Arg1654Cys		14760702	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346122	0.61073	2.55E-4	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.8	5.8	0.92144	.	0.290106	0.35936	N	0.002900	T	0.60881	0.2303	M	0.66939	2.045	0.48040	D	0.999579	D;D	0.71674	0.978;0.998	P;P	0.56514	0.726;0.8	T	0.62709	-0.6797	10	0.59425	D	0.04	-0.1397	13.9587	0.64166	0.0:0.0:0.7474:0.2526	.	1654;190	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	C	1655;1654;190;1654;67	ENSP00000370263:R1655C;ENSP00000412940:R1654C;ENSP00000370278:R190C;ENSP00000370262:R1654C	ENSP00000370262:R1654C	R	-	1	0	FREM1	14760702	0.998000	0.40836	0.952000	0.39060	0.514000	0.34195	2.849000	0.48286	2.743000	0.94032	0.650000	0.86243	CGC		0.473	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		A	14770702	G	A	14770702	3	1	35	1	0	0	0	0	1	0	0	0	6044	1116	39	1	1627	1	FREM1	9	14770702	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09		14770702	126442729	38	1769											
IFNA21	3452	genome.wustl.edu	37	9	21166467	21166467	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr9:21166467G>C	ENST00000380225.1	-	1	192	c.145C>G	c.(145-147)Cct>Gct	p.P49A		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	49					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGGAGAAAGGAGAGATTCTT	0.517																																																0			9											106	109	108					9																	21166467		2203	4300	6503	21156467	SO:0001583	missense	3452				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"Interferons"	5424	protein-coding gene	gene with protein product	"leukocyte interferon protein"	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.145C>G	9.37:g.21166467G>C	ENSP00000369574:p.Pro49Ala		21156467	Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	11.92	1.781462	0.31502	.	.	ENSG00000137080	ENST00000380225	T	0.03413	3.94	4.02	-0.225	0.13111	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.348813	0.29846	N	0.011045	T	0.04861	0.0131	M	0.78456	2.415	0.09310	N	1	P	0.42375	0.778	B	0.40506	0.331	T	0.27606	-1.0069	10	0.39692	T	0.17	.	2.1113	0.03703	0.1045:0.1791:0.4107:0.3057	.	49	P01568	IFN21_HUMAN	A	49	ENSP00000369574:P49A	ENSP00000369574:P49A	P	-	1	0	IFNA21	21156467	0.000000	0.05858	0.001000	0.08648	0.865000	0.49528	0.333000	0.19768	-0.250000	0.09555	0.644000	0.83932	CCT		0.517	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		C	21166467	G	C	21166467	3	2	35	1	0	0	0	0	1	0	0	0	7538	1174	41	3	428	3	IFNA21	9	21166467	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	6395765	21166467	120046964	39	1770											
ALOX5	240	genome.wustl.edu	37	10	45907646	45907646	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr10:45907646G>A	ENST00000374391.2	+	4	492	c.439G>A	c.(439-441)Gag>Aag	p.E147K	ALOX5_ENST00000542434.1_Missense_Mutation_p.E147K	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	147	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CAGATGGATGGAGTGGAACCC	0.498																																																0			10											120	116	118					10																	45907646		2203	4300	6503	45227652	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.439G>A	10.37:g.45907646G>A	ENSP00000363512:p.Glu147Lys		45227652	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187565	0.57909	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.89617	-2.54;-2.54	5.16	5.16	0.70880	Lipoxygenase, C-terminal (2);	0.119289	0.56097	D	0.000036	D	0.90789	0.7108	M	0.64997	1.995	0.58432	D	0.999992	D;D;D	0.60160	0.985;0.987;0.985	P;P;P	0.54401	0.709;0.751;0.709	D	0.88642	0.3176	10	0.21540	T	0.41	-39.4822	16.15	0.81611	0.0:0.0:1.0:0.0	.	147;147;147	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	K	147	ENSP00000437634:E147K;ENSP00000363512:E147K	ENSP00000363512:E147K	E	+	1	0	ALOX5	45227652	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.537000	0.98070	2.393000	0.81446	0.655000	0.94253	GAG		0.498	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			A	45907646	G	A	45907646	3	1	35	1	0	0	0	0	1	0	0	0	540	1175	41	2	453	2	ALOX5	10	45907646	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09		45907646	89627101	40	1771											
FAM21B	387680	genome.wustl.edu	37	10	47911507	47911507	+	Silent	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr10:47911507G>A	ENST00000358474.5	+	13	984	c.984G>A	c.(982-984)acG>acA	p.T328T		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		328					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CAGGAGACACGGATGTGTTTG	0.537																																																0			10											23	24	24					10																	47911507		1743	3496	5239	47431513	SO:0001819	synonymous_variant	55747																														ENST00000358474.5:c.984G>A	10.37:g.47911507G>A			47431513		Silent	SNP	ENST00000358474.5	37	CCDS44379.1																																																																																				0.537	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			A	47911507	G	A	47911507	2	1	35	1	0	0	0	0	0	0	0	1	5541	1103	39	1		1	FAM21B	10	47911507	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09	2003861	47911507	87623240	41	1772											
CTNNA3	29119	genome.wustl.edu	37	10	68381522	68381522	+	Silent	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr10:68381522G>A	ENST00000433211.2	-	10	1476	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	CTNNA3_ENST00000373744.4_Silent_p.S434S	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTGTTGACATGGAACAAGCAA	0.333																																																0			10											84	79	81					10																	68381522		2203	4299	6502	68051528	SO:0001819	synonymous_variant	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1302C>T	10.37:g.68381522G>A			68051528		Silent	SNP	ENST00000433211.2	37	CCDS7269.1																																																																																				0.333	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		A	68381522	G	A	68381522	2	1	35	1	0	0	0	0	0	0	0	1	4014	1335	47	2		2	CTNNA3	10	68381522	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09	20470015	68381522	67153225	42	1773											
TACC2	10579	genome.wustl.edu	37	10	123843832	123843832	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr10:123843832G>A	ENST00000369005.1	+	4	2157	c.1817G>A	c.(1816-1818)cGt>cAt	p.R606H	TACC2_ENST00000515603.1_Missense_Mutation_p.R606H|TACC2_ENST00000515273.1_Missense_Mutation_p.R606H|TACC2_ENST00000334433.3_Missense_Mutation_p.R606H|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.R606H|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	606					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGCAAGCGTGATCCAGAA	0.572																																																0			10											70	66	67					10																	123843832		2203	4300	6503	123833822	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1817G>A	10.37:g.123843832G>A	ENSP00000358001:p.Arg606His		123833822	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662280	0.29515	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03035	4.08;4.07;4.07;4.08;4.07	5.29	3.31	0.37934	.	0.733388	0.11267	N	0.581933	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	P;P;P	0.36616	0.561;0.561;0.561	B;B;B	0.24974	0.057;0.057;0.057	T	0.45862	-0.9232	10	0.72032	D	0.01	-0.3458	11.3784	0.49741	0.0:0.6235:0.3765:0.0	.	606;606;606	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	H	606;606;606;606;606;596	ENSP00000358001:R606H;ENSP00000424467:R606H;ENSP00000427618:R606H;ENSP00000334280:R606H;ENSP00000395048:R606H	ENSP00000334280:R606H	R	+	2	0	TACC2	123833822	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.150000	0.10189	1.233000	0.43693	-0.311000	0.09066	CGT		0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			A	123843832	G	A	123843832	3	1	35	1	0	0	0	0	1	0	0	0	15502	1145	40	1	1827	1	TACC2	10	123843832	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	55462310	123843832	11690915	43	1774											
PSTK	118672	genome.wustl.edu	37	10	124740041	124740041	+	Silent	SNP	C	C	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr10:124740041C>A	ENST00000368887.3	+	1	486	c.46C>A	c.(46-48)Cgg>Agg	p.R16R	PSTK_ENST00000405485.1_Silent_p.R16R	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	16					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CGACGGGCCGCGGAAACGAGG	0.692											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			10											16	19	18					10																	124740041		2183	4275	6458	124730031	SO:0001819	synonymous_variant	118672			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"chromosome 10 open reading frame 89"	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.46C>A	10.37:g.124740041C>A		1536	124730031	Q6ZSS9	Silent	SNP	ENST00000368887.3	37	CCDS7633.1																																																																																				0.692	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		A	124740041	C	A	124740041	2	1	35	1	0	0	0	0	0	0	0	1	12723	759	27	3		3	PSTK	10	124740041	Silent	SNP	C	TCGA-04-1652-01A-01W-0639-09	896209	124740041	10794706	44	1775											
HIPK3	10114	genome.wustl.edu	37	11	33309012	33309012	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr11:33309012T>C	ENST00000303296.4	+	2	1357	c.1052T>C	c.(1051-1053)gTa>gCa	p.V351A	HIPK3_ENST00000456517.1_Missense_Mutation_p.V351A|HIPK3_ENST00000379016.3_Missense_Mutation_p.V351A|HIPK3_ENST00000525975.1_Missense_Mutation_p.V351A	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	351	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GCCAGTCATGTATCAAAGACT	0.378																																																0			11											101	104	103					11																	33309012		2202	4298	6500	33265588	SO:0001583	missense	10114			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1052T>C	11.37:g.33309012T>C	ENSP00000304226:p.Val351Ala		33265588	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135674	0.77662	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.52	5.52	0.82312	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	0.56097	D	0.000029	T	0.32376	0.0827	L	0.31207	0.915	0.80722	D	1	P;P	0.42375	0.503;0.778	B;P	0.56474	0.302;0.799	T	0.06373	-1.0830	10	0.87932	D	0	.	15.651	0.77091	0.0:0.0:0.0:1.0	.	351;351	Q9H422-2;Q9H422	.;HIPK3_HUMAN	A	351	ENSP00000431710:V351A;ENSP00000304226:V351A;ENSP00000368301:V351A;ENSP00000398241:V351A	ENSP00000304226:V351A	V	+	2	0	HIPK3	33265588	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.040000	0.89188	2.101000	0.63845	0.460000	0.39030	GTA		0.378	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		C	33309012	T	C	33309012	3	2	35	1	0	0	0	0	1	0	0	0	7118	1638	57	4	1054	4	HIPK3	11	33309012	Missense_Mutation	SNP	T	TCGA-04-1652-01A-01W-0639-09		33309012	101697504	45	1776											
OR4C12	283093	genome.wustl.edu	37	11	50003836	50003836	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr11:50003836C>A	ENST00000335238.4	-	1	235	c.202G>T	c.(202-204)Gac>Tac	p.D68Y		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAAACTGTGTCTATCAAAGAA	0.443																																																0			11											64	67	66					11																	50003836		2201	4295	6496	49960412	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.202G>T	11.37:g.50003836C>A	ENSP00000334418:p.Asp68Tyr		49960412	B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	18.22	3.574899	0.65878	.	.	ENSG00000221954	ENST00000335238	T	0.01185	5.21	3.31	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.153463	0.28952	U	0.013607	T	0.11623	0.0283	H	0.97516	4.02	0.46317	D	0.998981	D	0.89917	1.0	D	0.80764	0.994	T	0.03945	-1.0990	10	0.87932	D	0	.	12.6176	0.56586	0.0:1.0:0.0:0.0	.	68	Q96R67	OR4CC_HUMAN	Y	68	ENSP00000334418:D68Y	ENSP00000334418:D68Y	D	-	1	0	OR4C12	49960412	1.000000	0.71417	0.409000	0.26459	0.984000	0.73092	7.130000	0.77235	1.878000	0.54408	0.398000	0.26397	GAC		0.443	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		A	50003836	C	A	50003836	3	1	35	1	0	0	0	0	1	0	0	0	11046	913	32	3	731	3	OR4C12	11	50003836	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	16694824	50003836	85002680	46	1777											
TSGA10IP	254187	genome.wustl.edu	37	11	65714718	65714718	+	RNA	SNP	T	T	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr11:65714718T>C	ENST00000532620.1	+	0	653				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CCCTCCTCGTTCTCCCAGCGT	0.647																																																0			11											17	19	18					11																	65714718		2119	4228	6347	65471294			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714718T>C			65471294	Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.647	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		C	65714718	T	C	65714718	1	2	35	0	1	0	0	0	0	0	0	0	16618	1783	62	4		4	TSGA10IP	11	65714718	RNA	SNP	T	TCGA-04-1652-01A-01W-0639-09	15710882	65714718	69291798	47	1778											
FAT3	120114	genome.wustl.edu	37	11	92534605	92534607	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	ACA	ACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr11:92534605_92534607delACA	ENST00000298047.6	+	9	8443_8445	c.8426_8428delACA	c.(8425-8430)gacaac>gac	p.N2810del	FAT3_ENST00000525166.1_In_Frame_Del_p.N2660del|FAT3_ENST00000409404.2_In_Frame_Del_p.N2810del			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2810	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATTTGAATGACAACAAGCCAGT	0.419										TCGA Ovarian(4;0.039)																																						0			11																																								92174255	SO:0001651	inframe_deletion	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8426_8428delACA	11.37:g.92534608_92534610delACA	ENSP00000298047:p.Asn2810del		92174253	B5MDB0|Q96AU6	In_Frame_Del	DEL	ENST00000298047.6	37																																																																																					0.419	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		-	92534607	ACA	-	92534605	7	5	35	1	0	1	0	1	0	0	0	0	5691	275	10	0	8460	0	FAT3	11	92534605	In_Frame_Del	DEL	ACA	TCGA-04-1652-01A-01W-0639-09	26819887	92534605	42471911	48	1779											
CCDC67	159989	genome.wustl.edu	37	11	93127699	93127699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr11:93127699delC	ENST00000298050.3	+	10	1216	c.1116delC	c.(1114-1116)gacfs	p.D372fs	CCDC67_ENST00000525646.1_Frame_Shift_Del_p.D114fs	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	372					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAATCTCTGACCTAACAGAAG	0.393																																																0			11											71	64	66					11																	93127699		1870	4090	5960	92767347	SO:0001589	frameshift_variant	159989			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1116delC	11.37:g.93127699delC	ENSP00000298050:p.Asp372fs		92767347	Q8NEF1|Q96LL7	Frame_Shift_Del	DEL	ENST00000298050.3	37	CCDS44707.1																																																																																				0.393	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		-	93127699	C	-	93127699	7	5	35	1	0	1	0	1	0	0	0	0	2839	506	18	0	1150	0	CCDC67	11	93127699	Frame_Shift_Del	DEL	C	TCGA-04-1652-01A-01W-0639-09	593094	93127699	41878817	49	1780											
ZC3H12C	85463	genome.wustl.edu	37	11	110030125	110030125	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr11:110030125A>G	ENST00000278590.3	+	4	1109	c.1058A>G	c.(1057-1059)aAt>aGt	p.N353S	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.N354S|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.N322S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	353							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ATTGTGTCCAATGATAACTAC	0.443																																																0			11											61	64	63					11																	110030125		2126	4280	6406	109535335	SO:0001583	missense	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1058A>G	11.37:g.110030125A>G	ENSP00000278590:p.Asn353Ser		109535335	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774711	0.90108	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.59083	0.29;0.29;0.29	5.55	5.55	0.83447	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.90650	3.135	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.992;0.996	D	0.85054	0.0930	10	0.87932	D	0	-34.1864	15.9917	0.80211	1.0:0.0:0.0:0.0	.	354;353;353	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	S	353;354;322	ENSP00000278590:N353S;ENSP00000431821:N354S;ENSP00000413094:N322S	ENSP00000278590:N353S	N	+	2	0	ZC3H12C	109535335	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.222000	0.72286	0.533000	0.62120	AAT		0.443	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		G	110030125	A	G	110030125	3	3	35	1	0	0	0	0	1	0	0	0	17563	101	4	4	1072	4	ZC3H12C	11	110030125	Missense_Mutation	SNP	A	TCGA-04-1652-01A-01W-0639-09	16902426	110030125	24976391	50	1781											
SIDT2	51092	genome.wustl.edu	37	11	117062657	117062657	+	Missense_Mutation	SNP	C	C	T	rs139484942		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr11:117062657C>T	ENST00000324225.4	+	19	2330	c.1799C>T	c.(1798-1800)cCg>cTg	p.P600L	SIDT2_ENST00000431081.2_Missense_Mutation_p.P597L|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	600					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AAGCGGCACCCGGACATCAAC	0.587																																																0			11						C	LEU/PRO	1,4401	2.1+/-5.4	0,1,2200	196	175	182		1799	4.9	1	11	dbSNP_134	182	1,8591	1.2+/-3.3	0,1,4295	no	missense	SIDT2	NM_001040455.1	98	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	600/833	117062657	2,12992	2201	4296	6497	116567867	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1799C>T	11.37:g.117062657C>T	ENSP00000314023:p.Pro600Leu		116567867	Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950619	0.92660	2.27E-4	1.16E-4	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.30714	1.52;1.52;1.52	4.91	4.91	0.64330	.	0.052843	0.85682	D	0.000000	T	0.57021	0.2025	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.64830	0.992;0.972;0.994;0.994	P;B;P;P	0.60068	0.792;0.286;0.868;0.868	T	0.64305	-0.6439	10	0.72032	D	0.01	-13.6396	18.2914	0.90131	0.0:1.0:0.0:0.0	.	621;597;600;621	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	L	600;621;597	ENSP00000314023:P600L;ENSP00000278951:P621L;ENSP00000399635:P597L	ENSP00000278951:P621L	P	+	2	0	SIDT2	116567867	1.000000	0.71417	0.954000	0.39281	0.822000	0.46500	7.566000	0.82347	2.573000	0.86826	0.655000	0.94253	CCG		0.587	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		T	117062657	C	T	117062657	3	4	35	1	0	0	0	0	1	0	0	0	14306	652	23	1	1873	1	SIDT2	11	117062657	Missense_Mutation	SNP	C	TCGA-04-1652-01A-01W-0639-09	7032532	117062657	17943859	51	1782											
POU2F3	25833	genome.wustl.edu	37	11	120170353	120170353	+	Silent	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr11:120170353G>A	ENST00000543440.2	+	5	429	c.279G>A	c.(277-279)ccG>ccA	p.P93P	POU2F3_ENST00000260264.4_Silent_p.P95P	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	93					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CCCTCCATCCGCTCCAGCAGC	0.567											OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											124	101	109					11																	120170353		2203	4300	6503	119675563	SO:0001819	synonymous_variant	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.279G>A	11.37:g.120170353G>A		1501	119675563	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297563	0.23650	.	.	ENSG00000137709	ENST00000533620	D	0.84070	-1.8	4.58	-9.16	0.00694	.	.	.	.	.	T	0.63022	0.2476	.	.	.	0.53688	D	0.999972	B	0.06786	0.001	B	0.04013	0.001	T	0.29549	-1.0008	8	0.23302	T	0.38	.	3.623	0.08103	0.1132:0.0844:0.4236:0.3788	.	32	E9PIN6	.	T	32	ENSP00000435738:A32T	ENSP00000435738:A32T	A	+	1	0	POU2F3	119675563	0.000000	0.05858	0.239000	0.24122	0.997000	0.91878	-4.769000	0.00188	-3.285000	0.00196	0.563000	0.77884	GCT		0.567	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			A	120170353	G	A	120170353	2	1	35	1	0	0	0	0	0	0	0	1	12273	1074	38	1		1	POU2F3	11	120170353	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09	3107696	120170353	14836163	52	1783											
ANO2	57101	genome.wustl.edu	37	12	5687611	5687611	+	Silent	SNP	G	G	A	rs377226128		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr12:5687611G>A	ENST00000356134.5	-	23	2381	c.2310C>T	c.(2308-2310)aaC>aaT	p.N770N	ANO2_ENST00000327087.8_Silent_p.N769N|ANO2_ENST00000546188.1_Silent_p.N770N	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	774					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTTCAATGACGTTGTTGAGGA	0.532													A|||	1	0.000199681	8e-04	0	5008	,	,		20942	0		0	False		,,,				2504	0															0			12						A		1,4061		0,1,2030	74	79	77		2307	-0.4	1	12		77	0,8364		0,0,4182	no	coding-synonymous	ANO2	NM_020373.2		0,1,6212	AA,AG,GG		0.0,0.0246,0.0080		769/999	5687611	1,12425	2031	4182	6213	5557872	SO:0001819	synonymous_variant	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2310C>T	12.37:g.5687611G>A			5557872	C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37																																																																																					0.532	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		A	5687611	G	A	5687611	2	1	35	1	0	0	0	0	0	0	0	1	697	1136	40	1		1	ANO2	12	5687611	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09		5687611	128164284	53	1784											
TMEM119	338773	genome.wustl.edu	37	12	108986031	108986031	+	Silent	SNP	C	C	T	rs74504010	byFrequency	TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr12:108986031C>T	ENST00000392806.3	-	2	297	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	43					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGCCCTCGGCCTCCCCACTAC	0.706													C|||	832	0.166134	0.0053	0.1297	5008	,	,		11135	0.3145		0.164	False		,,,				2504	0.2587															0			12						C		156,4214		6,144,2035	8	11	10		129	0.4	1	12	dbSNP_131	10	1399,7135		129,1141,2997	no	coding-synonymous	TMEM119	NM_181724.2		135,1285,5032	TT,TC,CC		16.3933,3.5698,12.0505		43/284	108986031	1555,11349	2185	4267	6452	107510160	SO:0001819	synonymous_variant	338773			AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.129G>A	12.37:g.108986031C>T			107510160	Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	CCDS9119.1																																																																																				0.706	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		T	108986031	C	T	108986031	2	4	35	1	0	0	0	0	0	0	0	1	16032	680	24	2		2	TMEM119	12	108986031	Silent	SNP	C	TCGA-04-1652-01A-01W-0639-09	103298420	108986031	24865864	54	1785											
TUBA3C	7278	genome.wustl.edu	37	13	19752479	19752479	+	Silent	SNP	G	G	A	rs144672090		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr13:19752479G>A	ENST00000400113.3	-	3	386	c.282C>T	c.(280-282)acC>acT	p.T94T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	94					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTCCTTCCCGGTGATCAGCT	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		20810	0		0	False		,,,				2504	0															0			13						G		4,4402	8.1+/-20.4	0,4,2199	166	141	150		282	-0.6	1	13	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	TUBA3C	NM_006001.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		94/451	19752479	4,13002	2203	4300	6503	18650479	SO:0001819	synonymous_variant	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.282C>T	13.37:g.19752479G>A			18650479	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.512	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		A	19752479	G	A	19752479	2	1	35	1	0	0	0	0	0	0	0	1	16746	1103	39	1		1	TUBA3C	13	19752479	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09		19752479	95417399	55	1786											
SYNE2	23224	genome.wustl.edu	37	14	64444671	64444671	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr14:64444671G>A	ENST00000344113.4	+	13	1554	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.E448K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E448K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	448					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTTACCTTTGAAAATAAGGA	0.378																																																0			14											128	111	116					14																	64444671		1874	4116	5990	63514424	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1342G>A	14.37:g.64444671G>A	ENSP00000341781:p.Glu448Lys		63514424	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514614	0.44763	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56776	0.8;0.8;0.44	6.07	4.25	0.50352	.	0.000000	0.56097	D	0.000034	T	0.42517	0.1206	L	0.49350	1.555	0.80722	D	1	B;B	0.26081	0.087;0.141	B;B	0.22753	0.018;0.041	T	0.27938	-1.0059	10	0.36615	T	0.2	.	6.8764	0.24149	0.1533:0.1448:0.7019:0.0	.	448;448	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	448	ENSP00000350719:E448K;ENSP00000341781:E448K;ENSP00000452570:E448K	ENSP00000261678:E448K	E	+	1	0	SYNE2	63514424	1.000000	0.71417	0.998000	0.56505	0.435000	0.31806	2.874000	0.48483	0.884000	0.36064	0.655000	0.94253	GAA		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64444671	G	A	64444671	3	1	35	1	0	0	0	0	1	0	0	0	15446	1291	45	2	1388	2	SYNE2	14	64444671	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09		64444671	42904869	56	1787											
PTPN21	11099	genome.wustl.edu	37	14	88940127	88940127	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr14:88940127A>G	ENST00000556564.1	-	14	2815	c.2531T>C	c.(2530-2532)gTa>gCa	p.V844A	PTPN21_ENST00000328736.3_Missense_Mutation_p.V844A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	844					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTTGCATCTACTCGAGTCTT	0.398																																																0			14											159	152	155					14																	88940127		2203	4300	6503	88009880	SO:0001583	missense	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2531T>C	14.37:g.88940127A>G	ENSP00000452414:p.Val844Ala		88009880		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	A	3.689	-0.064005	0.07273	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71817	-0.6;-0.6	5.43	-1.23	0.09465	.	0.689240	0.14831	N	0.295845	T	0.30727	0.0774	N	0.02011	-0.69	0.22305	N	0.999215	B	0.02656	0.0	B	0.01281	0.0	T	0.33471	-0.9867	10	0.02654	T	1	.	3.1775	0.06573	0.2292:0.4407:0.225:0.1052	.	844	Q16825	PTN21_HUMAN	A	844	ENSP00000330276:V844A;ENSP00000452414:V844A	ENSP00000330276:V844A	V	-	2	0	PTPN21	88009880	0.935000	0.31712	0.961000	0.40146	0.990000	0.78478	0.381000	0.20619	-0.151000	0.11176	0.533000	0.62120	GTA		0.398	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			G	88940127	A	G	88940127	3	3	35	1	0	0	0	0	1	0	0	0	12789	391	14	4	1017	4	PTPN21	14	88940127	Missense_Mutation	SNP	A	TCGA-04-1652-01A-01W-0639-09	24495456	88940127	18409413	57	1788											
SLCO3A1	28232	genome.wustl.edu	37	15	92647654	92647654	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr15:92647654G>A	ENST00000318445.6	+	4	1105	c.891G>A	c.(889-891)atG>atA	p.M297I	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.M297I|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	297					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AGCCCGCCATGGAAAGCGAGC	0.607																																																0			15											105	91	96					15																	92647654		2198	4298	6496	90448658	SO:0001583	missense	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.891G>A	15.37:g.92647654G>A	ENSP00000320634:p.Met297Ile		90448658	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304941	0.40795	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000556649;ENST00000555549	T;T	0.80566	-1.39;-1.39	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);	0.737577	0.13343	N	0.394996	T	0.64681	0.2620	N	0.04880	-0.145	0.38946	D	0.958249	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.60850	-0.7181	10	0.39692	T	0.17	.	13.2872	0.60249	0.0764:0.0:0.9236:0.0	.	239;297;297	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	I	297;297;90;16	ENSP00000320634:M297I;ENSP00000387846:M297I	ENSP00000320634:M297I	M	+	3	0	SLCO3A1	90448658	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	1.977000	0.40589	2.456000	0.83038	0.655000	0.94253	ATG		0.607	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		A	92647654	G	A	92647654	3	1	35	1	0	0	0	0	1	0	0	0	14731	1348	47	2	905	2	SLCO3A1	15	92647654	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09		92647654	9883738	58	1789											
TP53	7157	genome.wustl.edu	37	17	7578404	7578404	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr17:7578404A>C	ENST00000269305.4	-	5	715	c.526T>G	c.(526-528)Tgc>Ggc	p.C176G	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176G|TP53_ENST00000455263.2_Missense_Mutation_p.C176G|TP53_ENST00000359597.4_Missense_Mutation_p.C176G|TP53_ENST00000420246.2_Missense_Mutation_p.C176G|TP53_ENST00000445888.2_Missense_Mutation_p.C176G	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(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)	TGGTGGGGGCAGCGCCTCACA	0.647		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"	80	Substitution - Missense(26)|Deletion - Frameshift(25)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)	breast(18)|haematopoietic_and_lymphoid_tissue(13)|oesophagus(10)|upper_aerodigestive_tract(8)|large_intestine(8)|stomach(4)|lung(4)|liver(4)|bone(4)|central_nervous_system(3)|ovary(2)|biliary_tract(1)|prostate(1)	17											49	49	49					17																	7578404		2203	4300	6503	7519129	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.526T>G	17.37:g.7578404A>C	ENSP00000269305:p.Cys176Gly		7519129	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	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725152	0.89298	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.998;0.971;0.983;0.996;0.995;0.977;0.994	D;D;D;D;D;D;D	0.87578	0.998;0.977;0.982;0.998;0.988;0.973;0.996	D	0.96412	0.9305	10	0.87932	D	0	-18.1821	14.037	0.64651	1.0:0.0:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176G;ENSP00000352610:C176G;ENSP00000269305:C176G;ENSP00000398846:C176G;ENSP00000391127:C176G;ENSP00000391478:C176G;ENSP00000425104:C44G;ENSP00000423862:C83G	ENSP00000269305:C176G	C	-	1	0	TP53	7519129	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.287000	0.95975	2.263000	0.75096	0.533000	0.62120	TGC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578404	A	C	7578404	3	2	35	1	0	0	0	0	1	0	0	0	16381	188	7	5	772	5	TP53	17	7578404	Missense_Mutation	SNP	A	TCGA-04-1652-01A-01W-0639-09		7578404	73616806	59	1790											
MYH1	4619	genome.wustl.edu	37	17	10401190	10401190	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr17:10401190T>C	ENST00000226207.5	-	31	4320	c.4226A>G	c.(4225-4227)gAa>gGa	p.E1409G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1409					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTCACAGCTTCTACATGTTC	0.458																																																0			17											104	93	97					17																	10401190		2203	4300	6503	10341915	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4226A>G	17.37:g.10401190T>C	ENSP00000226207:p.Glu1409Gly		10341915	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339731	0.81911	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.82167	-1.58	5.65	5.65	0.86999	Myosin tail (1);	0.000000	0.44483	U	0.000453	D	0.92028	0.7474	M	0.88310	2.945	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.92344	0.5884	10	0.44086	T	0.13	.	16.1566	0.81673	0.0:0.0:0.0:1.0	.	1409	P12882	MYH1_HUMAN	G	1409;498	ENSP00000226207:E1409G	ENSP00000226207:E1409G	E	-	2	0	MYH1	10341915	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.993000	0.88291	2.268000	0.75426	0.533000	0.62120	GAA		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		C	10401190	T	C	10401190	3	2	35	1	0	0	0	0	1	0	0	0	10029	1783	62	4	1633	4	MYH1	17	10401190	Missense_Mutation	SNP	T	TCGA-04-1652-01A-01W-0639-09	2822786	10401190	70794020	60	1791											
AZI1	22994	genome.wustl.edu	37	17	79180660	79180660	+	Silent	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr17:79180660G>A	ENST00000269392.4	-	5	646	c.399C>T	c.(397-399)ccC>ccT	p.P133P	AZI1_ENST00000374782.3_Silent_p.P133P|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000450824.2_Silent_p.P133P|AZI1_ENST00000575907.1_Silent_p.P133P	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		133					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGAAGCCCCGGGGCTGGTCAT	0.657																																																0			17											53	61	58					17																	79180660		2203	4300	6503	76795255	SO:0001819	synonymous_variant	22994																														ENST00000269392.4:c.399C>T	17.37:g.79180660G>A			76795255	A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37																																																																																					0.657	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			A	79180660	G	A	79180660	2	1	35	1	0	0	0	0	0	0	0	1	1240	1219	43	2		2	AZI1	17	79180660	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09	68779470	79180660	2014550	61	1792											
XAB2	56949	genome.wustl.edu	37	19	7688131	7688131	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr19:7688131G>C	ENST00000358368.4	-	9	1201	c.1164C>G	c.(1162-1164)ttC>ttG	p.F388L	XAB2_ENST00000534844.1_Missense_Mutation_p.F385L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	388					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTGTGGCCTTGAAGGGGTCCA	0.582								Direct reversal of damage;Nucleotide excision repair (NER)																																								0			19											150	119	129					19																	7688131		2203	4300	6503	7594131	SO:0001583	missense	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1164C>G	19.37:g.7688131G>C	ENSP00000351137:p.Phe388Leu		7594131	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502376	0.44455	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03441	3.93;3.93	4.57	4.57	0.56435	Tetratricopeptide-like helical (1);	0.256440	0.34338	N	0.004049	T	0.02156	0.0067	N	0.11201	0.11	0.34404	D	0.695569	B	0.06786	0.001	B	0.09377	0.004	T	0.36986	-0.9725	10	0.34782	T	0.22	-31.6173	6.2205	0.20679	0.0962:0.0:0.7173:0.1865	.	388	Q9HCS7	SYF1_HUMAN	L	388;385	ENSP00000351137:F388L;ENSP00000438225:F385L	ENSP00000351137:F388L	F	-	3	2	XAB2	7594131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.831000	0.48144	2.263000	0.75096	0.643000	0.83706	TTC		0.582	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		C	7688131	G	C	7688131	3	2	35	1	0	0	0	0	1	0	0	0	17418	1281	45	3	1447	3	XAB2	19	7688131	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09		7688131	51440852	62	1793											
MUC16	94025	genome.wustl.edu	37	19	9087849	9087849	+	Silent	SNP	G	G	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr19:9087849G>T	ENST00000397910.4	-	1	4169	c.3966C>A	c.(3964-3966)acC>acA	p.T1322T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1322	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGTAGGTGGTGGGGTCCC	0.493																																																0			19											137	136	137					19																	9087849		2122	4243	6365	8948849	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3966C>A	19.37:g.9087849G>T			8948849	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9087849	G	T	9087849	2	4	35	1	0	0	0	0	0	0	0	1	9973	1335	47	3		3	MUC16	19	9087849	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09	1399718	9087849	50041134	63	1794											
RPS9	6203	genome.wustl.edu	37	19	54711303	54711303	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr19:54711303G>A	ENST00000302907.4	+	5	617	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	RPS9_ENST00000391753.2_Missense_Mutation_p.V149I|RPS9_ENST00000391751.3_3'UTR|RPS9_ENST00000441429.1_3'UTR|RPS9_ENST00000391752.1_Missense_Mutation_p.V149I|RPS9_ENST00000402367.1_3'UTR	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	149	S4 RNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00182}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		GTCCTTCATTGTCCGCCTGGA	0.612																																																0			19											86	65	72					19																	54711303		2203	4300	6503	59403115	SO:0001583	missense	6203			U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"S ribosomal proteins"	10442	protein-coding gene	gene with protein product	"40S ribosomal protein S9"	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.445G>A	19.37:g.54711303G>A	ENSP00000302896:p.Val149Ile		59403115	A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638085	0.96693	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000391753	T;T;T	0.60424	0.19;0.19;0.19	4.86	4.86	0.63082	RNA-binding S4 (4);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.90082	3.085	0.80722	D	1	D	0.55800	0.973	P	0.59761	0.863	T	0.82859	-0.0249	10	0.87932	D	0	-36.5195	15.8659	0.79063	0.0:0.0:1.0:0.0	.	149	P46781	RS9_HUMAN	I	149	ENSP00000302896:V149I;ENSP00000375632:V149I;ENSP00000375633:V149I	ENSP00000302896:V149I	V	+	1	0	RPS9	59403115	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	8.640000	0.91028	2.692000	0.91855	0.655000	0.94253	GTC		0.612	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		A	54711303	G	A	54711303	3	1	35	1	0	0	0	0	1	0	0	0	13665	1377	48	2	459	2	RPS9	19	54711303	Missense_Mutation	SNP	G	TCGA-04-1652-01A-01W-0639-09	45623454	54711303	4417680	64	1795											
PTPRT	11122	genome.wustl.edu	37	20	40980843	40980843	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr20:40980843T>C	ENST00000373187.1	-	10	1642	c.1643A>G	c.(1642-1644)gAa>gGa	p.E548G	PTPRT_ENST00000373190.1_Missense_Mutation_p.E548G|PTPRT_ENST00000373198.4_Missense_Mutation_p.E548G|PTPRT_ENST00000356100.2_Missense_Mutation_p.E548G|PTPRT_ENST00000373193.3_Missense_Mutation_p.E548G|PTPRT_ENST00000373201.1_Missense_Mutation_p.E548G|PTPRT_ENST00000373184.1_Missense_Mutation_p.E548G			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	548	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGGTGGGTTTCATTCCGGAG	0.577																																																0			20											86	92	90					20																	40980843		1962	4139	6101	40414257	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1643A>G	20.37:g.40980843T>C	ENSP00000362283:p.Glu548Gly		40414257	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.040802	0.93685	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.110113	0.64402	D	0.000007	T	0.71804	0.3383	M	0.72353	2.195	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.70487	0.947;0.969	T	0.74318	-0.3704	10	0.66056	D	0.02	.	16.5549	0.84482	0.0:0.0:0.0:1.0	.	548;548	O14522-1;O14522	.;PTPRT_HUMAN	G	548	ENSP00000362286:E548G;ENSP00000362283:E548G;ENSP00000362289:E548G;ENSP00000348408:E548G;ENSP00000362294:E548G;ENSP00000362280:E548G;ENSP00000362297:E548G	ENSP00000348408:E548G	E	-	2	0	PTPRT	40414257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.310000	0.77875	0.450000	0.29827	GAA		0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			C	40980843	T	C	40980843	3	2	35	1	0	0	0	0	1	0	0	0	12815	1783	62	4	2831	4	PTPRT	20	40980843	Missense_Mutation	SNP	T	TCGA-04-1652-01A-01W-0639-09		40980843	22044677	65	1796											
ADAMTS5	11096	genome.wustl.edu	37	21	28305355	28305355	+	Silent	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr21:28305355G>A	ENST00000284987.5	-	5	1819	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	566	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGTTGCCATGGCTTGACGTCT	0.443																																					Esophageal Squamous(53;683 1080 10100 14424 45938)											0			21											69	59	62					21																	28305355		2203	4300	6503	27227226	SO:0001819	synonymous_variant	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1698C>T	21.37:g.28305355G>A			27227226	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	CCDS13579.1																																																																																				0.443	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			A	28305355	G	A	28305355	2	1	35	1	0	0	0	0	0	0	0	1	269	1194	42	2		2	ADAMTS5	21	28305355	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09		28305355	19824540	66	1797											
CSNK1E	1454	genome.wustl.edu	37	22	38696913	38696913	+	Silent	SNP	C	C	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chr22:38696913C>A	ENST00000396832.1	-	5	641	c.381G>T	c.(379-381)cgG>cgT	p.R127R	CSNK1E_ENST00000413574.2_Silent_p.R127R|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000400206.2_Silent_p.R127R|CSNK1E_ENST00000403904.1_Silent_p.R127R|CSNK1E_ENST00000359867.3_Silent_p.R127R|CSNK1E_ENST00000405675.3_Silent_p.R127R	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCTTGACGTCCCGGTGGATGA	0.597																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)											0			22											171	145	154					22																	38696913		2203	4300	6503	37026859	SO:0001819	synonymous_variant	1454				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.381G>T	22.37:g.38696913C>A			37026859		Silent	SNP	ENST00000396832.1	37	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441611	0.25900	.	.	ENSG00000213923	ENST00000451964	.	.	.	5.44	-1.89	0.07689	.	.	.	.	.	T	0.50069	0.1594	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40384	-0.9566	4	.	.	.	.	5.9875	0.19442	0.0:0.3356:0.3405:0.3239	.	.	.	.	V	65	.	.	G	-	2	0	CSNK1E	37026859	0.085000	0.21516	0.715000	0.30552	0.990000	0.78478	-0.563000	0.05943	-0.366000	0.08064	0.561000	0.74099	GGG		0.597	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		A	38696913	C	A	38696913	2	1	35	1	0	0	0	0	0	0	0	1	3953	610	22	3		3	CSNK1E	22	38696913	Silent	SNP	C	TCGA-04-1652-01A-01W-0639-09		38696913	12607653	67	1798											
TLR7	51284	genome.wustl.edu	37	X	12905367	12905367	+	Silent	SNP	T	T	C			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chrX:12905367T>C	ENST00000380659.3	+	3	1879	c.1740T>C	c.(1738-1740)ttT>ttC	p.F580F		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	580					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GCCATTATTTTCAATCAGAAG	0.393																																																0			X											111	119	117					X																	12905367		2203	4300	6503	12815288	SO:0001819	synonymous_variant	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1740T>C	X.37:g.12905367T>C			12815288	D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	CCDS14151.1																																																																																				0.393	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		C	12905367	T	C	12905367	2	2	35	1	0	0	0	0	0	0	0	1	15956	1780	62	4		4	TLR7	23	12905367	Silent	SNP	T	TCGA-04-1652-01A-01W-0639-09		12905367	142365193	68	1799											
CCNB3	85417	genome.wustl.edu	37	X	50053116	50053116	+	Silent	SNP	G	G	A	rs201598054		TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chrX:50053116G>A	ENST00000376042.1	+	6	2245	c.1947G>A	c.(1945-1947)ttG>ttA	p.L649L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L649L			Q8WWL7	CCNB3_HUMAN	cyclin B3	649					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATACCACCTTGCAGGAAGTGT	0.428																																																0			X											51	44	46					X																	50053116		2203	4300	6503	50069856	SO:0001819	synonymous_variant	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1947G>A	X.37:g.50053116G>A			50069856	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	CCDS14331.1																																																																																				0.428	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			A	50053116	G	A	50053116	2	1	35	1	0	0	0	0	0	0	0	1	2914	1310	46	2		2	CCNB3	23	50053116	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09	37147749	50053116	105217444	69	1800											
HEPH	9843	genome.wustl.edu	37	X	65412030	65412030	+	Silent	SNP	G	G	A			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chrX:65412030G>A	ENST00000343002.2	+	6	1786	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	HEPH_ENST00000419594.1_Silent_p.L377L|HEPH_ENST00000519389.1_Silent_p.L428L|HEPH_ENST00000441993.2_Silent_p.L377L|HEPH_ENST00000336279.5_Silent_p.L107L|HEPH_ENST00000374727.3_Silent_p.L377L			Q9BQS7	HEPH_HUMAN	hephaestin	374					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGTGGACCTGCTCACAGGCA	0.507																																																0			X											116	91	100					X																	65412030		2203	4300	6503	65328755	SO:0001819	synonymous_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1122G>A	X.37:g.65412030G>A			65328755	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37																																																																																					0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		A	65412030	G	A	65412030	2	1	35	1	0	0	0	0	0	0	0	1	7054	1306	46	2		2	HEPH	23	65412030	Silent	SNP	G	TCGA-04-1652-01A-01W-0639-09	15358914	65412030	89858530	70	1801											
THOC2	57187	genome.wustl.edu	37	X	122866861	122866861	+	Silent	SNP	C	C	T			TCGA-04-1652-01A-01W-0639-09	TCGA-04-1652-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8edb3a01-22e3-4671-8685-75f08d7af0d5	1bfaaa95-191e-4fa6-ae9f-1e11b4285f5c	g.chrX:122866861C>T	ENST00000245838.8	-	1	43	c.12G>A	c.(10-12)gcG>gcA	p.A4A	THOC2_ENST00000355725.4_Silent_p.A4A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	4					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCACCACAGCCGCGGCCGCCA	0.637											OREG0003978|OREG0003979	type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			X											57	62	60					X																	122866861		1964	4133	6097	122694542	SO:0001819	synonymous_variant	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.12G>A	X.37:g.122866861C>T		1522	122694542	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	CCDS43988.1																																																																																				0.637	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			T	122866861	C	T	122866861	2	4	35	1	0	0	0	0	0	0	0	1	15865	639	23	1		1	THOC2	23	122866861	Silent	SNP	C	TCGA-04-1652-01A-01W-0639-09	57454831	122866861	32403699	71	1802											
MKNK1	8569	genome.wustl.edu	37	1	47048940	47048940	+	Silent	SNP	C	C	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr1:47048940C>A	ENST00000371946.4	-	3	259	c.96G>T	c.(94-96)cgG>cgT	p.R32R	MKNK1_ENST00000465783.1_Silent_p.R32R|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000545730.1_Silent_p.R32R|MKNK1_ENST00000525888.1_5'Flank|MKNK1_ENST00000341183.5_Silent_p.R32R|MKNK1_ENST00000371945.4_Silent_p.R32R|MKNK1_ENST00000428112.2_Silent_p.R32R	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	32					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CCCGGCCCCTCCGCTTCTTCT	0.542																																																0			1											96	103	101					1																	47048940		2203	4300	6503	46821527	SO:0001819	synonymous_variant	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.96G>T	1.37:g.47048940C>A			46821527	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	ENST00000371946.4	37	CCDS538.1																																																																																				0.542	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		A	47048940	C	A	47048940	2	1	36	1	0	0	0	0	0	0	0	1	9604	842	30	3		3	MKNK1	1	47048940	Silent	SNP	C	TCGA-04-1655-01A-01W-0633-09		47048940	202201681	1	1803											
OTUD7B	56957	genome.wustl.edu	37	1	149936182	149936182	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr1:149936182G>A	ENST00000369135.4	-	6	991	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	233	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CACCTCCAGCGCCTTTTCAAC	0.532																																																0			1											107	119	115					1																	149936182		2115	4246	6361	148202806	SO:0001583	missense	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.697C>T	1.37:g.149936182G>A	ENSP00000358131:p.Arg233Cys		148202806	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004012	0.74932	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.54675	0.56;0.71	4.87	4.87	0.63330	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73448	-0.3979	9	.	.	.	-30.4617	12.2218	0.54437	0.0:0.0:0.8297:0.1703	.	233;233	B7Z643;Q6GQQ9	.;OTU7B_HUMAN	C	233	ENSP00000358131:R233C;ENSP00000408231:R233C	.	R	-	1	0	OTUD7B	148202806	0.912000	0.30974	1.000000	0.80357	0.957000	0.61999	1.381000	0.34362	2.696000	0.92011	0.655000	0.94253	CGC		0.532	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		A	149936182	G	A	149936182	3	1	36	1	0	0	0	0	1	0	0	0	11319	1087	38	1	1862	1	OTUD7B	1	149936182	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	102887242	149936182	99314439	2	1804											
F5	2153	genome.wustl.edu	37	1	169509691	169509691	+	Missense_Mutation	SNP	T	T	C	rs200308026		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr1:169509691T>C	ENST00000367797.3	-	13	4838	c.4637A>G	c.(4636-4638)tAt>tGt	p.Y1546C	F5_ENST00000367796.3_Missense_Mutation_p.Y1551C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1546	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGGTCATCATAGGGCACATA	0.443													T|||	1	0.000199681	8e-04	0	5008	,	,		19396	0		0	False		,,,				2504	0															0			1											103	93	96					1																	169509691		2203	4300	6503	167776315	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4637A>G	1.37:g.169509691T>C	ENSP00000356771:p.Tyr1546Cys		167776315	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	13.48	2.250188	0.39797	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.51071	0.72;0.72	5.93	4.79	0.61399	.	0.409709	0.27725	N	0.018102	T	0.60650	0.2285	M	0.85710	2.77	0.39434	D	0.967124	D	0.89917	1.0	D	0.71870	0.975	T	0.70753	-0.4786	9	0.87932	D	0	-15.1147	11.0727	0.48012	0.26:0.0:0.0:0.74	.	1546	P12259	FA5_HUMAN	C	1546;1551	ENSP00000356771:Y1546C;ENSP00000356770:Y1551C	ENSP00000356770:Y1551C	Y	-	2	0	F5	167776315	1.000000	0.71417	0.107000	0.21349	0.341000	0.28922	2.569000	0.45973	1.039000	0.40074	0.482000	0.46254	TAT		0.443	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169509691	T	C	169509691	3	2	36	1	0	0	0	0	1	0	0	0	5348	1406	49	4	2089	4	F5	1	169509691	Missense_Mutation	SNP	T	TCGA-04-1655-01A-01W-0633-09	19573509	169509691	79740930	3	1805											
RYR2	6262	genome.wustl.edu	37	1	237659983	237659983	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr1:237659983G>C	ENST00000366574.2	+	20	2451	c.2134G>C	c.(2134-2136)Gag>Cag	p.E712Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E710Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E696Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	712	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGGGCGAAGAGTGGGGTGG	0.522																																																0			1											134	141	138					1																	237659983		1956	4157	6113	235726606	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2134G>C	1.37:g.237659983G>C	ENSP00000355533:p.Glu712Gln		235726606	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128388	0.94473	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69175	-0.38;-0.38;-0.38	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.088350	0.46145	D	0.000313	T	0.55752	0.1940	N	0.14661	0.345	0.80722	D	1	P	0.48911	0.917	B	0.41894	0.369	T	0.61869	-0.6974	10	0.56958	D	0.05	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	712	Q92736	RYR2_HUMAN	Q	712;710;696	ENSP00000355533:E712Q;ENSP00000353174:E710Q;ENSP00000443798:E696Q	ENSP00000353174:E710Q	E	+	1	0	RYR2	235726606	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	GAG		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237659983	G	C	237659983	3	2	36	1	0	0	0	0	1	0	0	0	13772	943	33	3	2212	3	RYR2	1	237659983	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	68150292	237659983	11590638	4	1806											
CCT7	10574	genome.wustl.edu	37	2	73476288	73476288	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr2:73476288A>T	ENST00000258091.5	+	8	1094	c.953A>T	c.(952-954)gAt>gTt	p.D318V	CCT7_ENST00000539919.1_Missense_Mutation_p.D274V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000537131.1_Missense_Mutation_p.D218V|CCT7_ENST00000540468.1_Missense_Mutation_p.D231V|CCT7_ENST00000538797.1_Missense_Mutation_p.D190V|CCT7_ENST00000398422.2_Missense_Mutation_p.D114V	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	318					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CCTGAGGAGGATCTGAAGAGG	0.522																																																0			2											93	97	96					2																	73476288		1994	4159	6153	73329796	SO:0001583	missense	10574			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.953A>T	2.37:g.73476288A>T	ENSP00000258091:p.Asp318Val		73329796	A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337148	0.81911	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.93546	0.7940	H	0.98965	4.385	0.80722	D	1	P;D;D;D;P;D	0.71674	0.951;0.998;0.995;0.993;0.903;0.992	P;D;D;D;D;D	0.74674	0.888;0.984;0.973;0.977;0.925;0.961	D	0.95659	0.8713	10	0.87932	D	0	-18.6726	13.586	0.61931	1.0:0.0:0.0:0.0	.	231;190;218;276;114;318	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	V	231;274;318;114;218;190;276	ENSP00000442058:D231V;ENSP00000437824:D274V;ENSP00000258091:D318V;ENSP00000381456:D114V;ENSP00000444379:D218V;ENSP00000438462:D190V	ENSP00000258091:D318V	D	+	2	0	CCT7	73329796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.075000	0.94004	2.157000	0.67596	0.374000	0.22700	GAT		0.522	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			T	73476288	A	T	73476288	3	4	36	1	0	0	0	0	1	0	0	0	2959	333	12	5	983	5	CCT7	2	73476288	Missense_Mutation	SNP	A	TCGA-04-1655-01A-01W-0633-09		73476288	169723085	5	1807											
CNTNAP5	129684	genome.wustl.edu	37	2	125671848	125671848	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr2:125671848C>T	ENST00000431078.1	+	24	4268	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1302					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1302G(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGAGTGTAAACGGGAATATTT	0.408																																																1	Substitution - Missense(1)	lung(1)	2											98	101	100					2																	125671848		1864	4105	5969	125388318	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3904C>T	2.37:g.125671848C>T	ENSP00000399013:p.Arg1302Trp		125388318	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064330	0.76187	.	.	ENSG00000155052	ENST00000431078	D	0.88586	-2.4	6.14	4.26	0.50523	.	0.000000	0.45126	D	0.000396	D	0.90607	0.7055	M	0.72479	2.2	0.39442	D	0.967262	D	0.71674	0.998	P	0.50791	0.65	D	0.92279	0.5832	10	0.87932	D	0	.	13.6702	0.62420	0.4024:0.5976:0.0:0.0	.	1302	Q8WYK1	CNTP5_HUMAN	W	1302	ENSP00000399013:R1302W	ENSP00000399013:R1302W	R	+	1	2	CNTNAP5	125388318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.869000	0.27996	1.572000	0.49736	0.637000	0.83480	CGG		0.408	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125671848	C	T	125671848	3	4	36	1	0	0	0	0	1	0	0	0	3650	527	19	1	3998	1	CNTNAP5	2	125671848	Missense_Mutation	SNP	C	TCGA-04-1655-01A-01W-0633-09	52195560	125671848	117527525	6	1808											
PDE11A	50940	genome.wustl.edu	37	2	178762866	178762866	+	Silent	SNP	G	G	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr2:178762866G>T	ENST00000286063.6	-	4	1538	c.1221C>A	c.(1219-1221)gtC>gtA	p.V407V	PDE11A_ENST00000449286.2_Silent_p.V49V|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Silent_p.V49V|PDE11A_ENST00000358450.4_Silent_p.V157V	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	407	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTATTTTCTTGACAATTTTCT	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							0			2											127	120	123					2																	178762866		2203	4300	6503	178471112	SO:0001819	synonymous_variant	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1221C>A	2.37:g.178762866G>T			178471112	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293770	0.23564	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.99	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2377	0.26079	0.2018:0.2403:0.5579:0.0	.	.	.	.	X	46	.	.	S	-	2	0	PDE11A	178471112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.116000	0.31221	0.824000	0.34613	0.655000	0.94253	TCA		0.378	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			T	178762866	G	T	178762866	2	4	36	1	0	0	0	0	0	0	0	1	11631	1277	45	3		3	PDE11A	2	178762866	Silent	SNP	G	TCGA-04-1655-01A-01W-0633-09	53091018	178762866	64436507	7	1809											
PTPRN	5798	genome.wustl.edu	37	2	220164814	220164814	+	Silent	SNP	G	G	A	rs151307858		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr2:220164814G>A	ENST00000295718.2	-	9	1569	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V	PTPRN_ENST00000423636.2_Silent_p.V353V|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.V443V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	443					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCTCTAGCAGGACAGGTGTCA	0.627																																																0			2						G	,,	1,4405	2.1+/-5.4	0,1,2202	63	72	69		1329,1059,1329	3.5	0.9	2	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	443/951,353/890,443/980	220164814	1,13005	2203	4300	6503	219873058	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1329C>T	2.37:g.220164814G>A			219873058	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	CCDS2440.1																																																																																				0.627	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			A	220164814	G	A	220164814	2	1	36	1	0	0	0	0	0	0	0	1	12810	1161	41	2		2	PTPRN	2	220164814	Silent	SNP	G	TCGA-04-1655-01A-01W-0633-09	41401948	220164814	23034559	8	1810											
ITPR1	3708	genome.wustl.edu	37	3	4709173	4709173	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:4709173A>T	ENST00000443694.2	+	15	1781	c.1781A>T	c.(1780-1782)cAc>cTc	p.H594L	ITPR1_ENST00000302640.8_Missense_Mutation_p.H594L|ITPR1_ENST00000423119.2_Missense_Mutation_p.H609L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.H594L|ITPR1_ENST00000357086.4_Missense_Mutation_p.H609L|ITPR1_ENST00000354582.6_Missense_Mutation_p.H609L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	609					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGAAAAACACATTACCGCG	0.522																																																0			3											64	59	61					3																	4709173		1942	4164	6106	4684173	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1781A>T	3.37:g.4709173A>T	ENSP00000401671:p.His594Leu		4684173	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806363	0.70682	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	4.74	4.74	0.60224	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.991	D	0.97253	0.9899	10	0.25106	T	0.35	.	14.4311	0.67251	1.0:0.0:0.0:0.0	.	594;609;609	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	L	609;594;609;609;609;594;594	ENSP00000306253:H594L;ENSP00000346595:H609L;ENSP00000405934:H609L;ENSP00000349597:H609L;ENSP00000397885:H594L;ENSP00000401671:H594L	ENSP00000306253:H594L	H	+	2	0	ITPR1	4684173	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	9.049000	0.93837	1.994000	0.58287	0.454000	0.30748	CAC		0.522	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		T	4709173	A	T	4709173	3	4	36	1	0	0	0	0	1	0	0	0	7920	159	6	5	1888	5	ITPR1	3	4709173	Missense_Mutation	SNP	A	TCGA-04-1655-01A-01W-0633-09		4709173	193313257	9	1811											
SLC22A14	9389	genome.wustl.edu	37	3	38357907	38357907	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:38357907T>A	ENST00000273173.4	+	9	1716	c.1625T>A	c.(1624-1626)aTc>aAc	p.I542N	SLC22A14_ENST00000448498.1_Missense_Mutation_p.I542N	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	542					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCCTGCCCATCTTTCTCTGC	0.612																																																0			3											120	90	101					3																	38357907		2203	4300	6503	38332911	SO:0001583	missense	9389			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1625T>A	3.37:g.38357907T>A	ENSP00000273173:p.Ile542Asn		38332911	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	T	9.636	1.137700	0.21123	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.59364	0.27;0.27	4.2	1.4	0.22301	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.352176	0.33591	N	0.004756	T	0.37758	0.1015	L	0.35487	1.065	0.09310	N	1	B	0.32382	0.368	B	0.31191	0.125	T	0.18429	-1.0337	10	0.44086	T	0.13	.	3.3876	0.07277	0.1931:0.1203:0.0:0.6866	.	542	Q9Y267	S22AE_HUMAN	N	542;527;542	ENSP00000396283:I542N;ENSP00000273173:I542N	ENSP00000273173:I542N	I	+	2	0	SLC22A14	38332911	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.842000	0.27627	0.280000	0.22209	0.533000	0.62120	ATC		0.612	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		A	38357907	T	A	38357907	3	1	36	1	0	0	0	0	1	0	0	0	14448	1435	50	5	1659	5	SLC22A14	3	38357907	Missense_Mutation	SNP	T	TCGA-04-1655-01A-01W-0633-09	33648734	38357907	159664523	10	1812											
ROBO1	6091	genome.wustl.edu	37	3	78696803	78696803	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:78696803G>C	ENST00000464233.1	-	20	2928	c.2815C>G	c.(2815-2817)Ccg>Gcg	p.P939A	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000436010.2_Missense_Mutation_p.P900A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTAAAAGACGGGACTGAAAAA	0.343																																																0			3											246	238	240					3																	78696803		1830	4094	5924	78779493	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2815C>G	3.37:g.78696803G>C	ENSP00000420321:p.Pro939Ala		78779493	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197037	0.79015	.	.	ENSG00000169855	ENST00000436010;ENST00000464233;ENST00000398414	T;T	0.60299	0.23;0.2	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.999;0.974;0.998	D;P;D	0.83275	0.996;0.642;0.955	T	0.61987	-0.6949	9	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	903;939;900	Q9Y6N7-3;Q9Y6N7;Q9Y6N7-4	.;ROBO1_HUMAN;.	A	900;939;943	ENSP00000406043:P900A;ENSP00000420321:P939A	.	P	-	1	0	ROBO1	78779493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.575000	0.98187	2.821000	0.97095	0.555000	0.69702	CCG		0.343	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		C	78696803	G	C	78696803	3	2	36	1	0	0	0	0	1	0	0	0	13516	1232	43	3	2188	3	ROBO1	3	78696803	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	40338896	78696803	119325627	11	1813											
EPHB1	2047	genome.wustl.edu	37	3	134851754	134851754	+	Missense_Mutation	SNP	C	C	T	rs56396912		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:134851754C>T	ENST00000398015.3	+	5	1530	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	387	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in dbSNP:rs56396912). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.T387M(4)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGGGCCTGACGGAGTGCCGC	0.612																																																4	Substitution - Missense(4)	ovary(4)	3											41	47	45					3																	134851754		2199	4295	6494	136334444	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1160C>T	3.37:g.134851754C>T	ENSP00000381097:p.Thr387Met		136334444	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835462	0.71373	.	.	ENSG00000154928	ENST00000398015	T	0.60797	0.16	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058337	0.64402	D	0.000003	T	0.77857	0.4193	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	T	0.80405	-0.1396	10	0.72032	D	0.01	.	19.4235	0.94732	0.0:1.0:0.0:0.0	rs56396912	387	P54762	EPHB1_HUMAN	M	387	ENSP00000381097:T387M	ENSP00000381097:T387M	T	+	2	0	EPHB1	136334444	1.000000	0.71417	0.962000	0.40283	0.657000	0.38888	5.999000	0.70665	2.590000	0.87494	0.655000	0.94253	ACG		0.612	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		T	134851754	C	T	134851754	3	4	36	1	0	0	0	0	1	0	0	0	5174	536	19	1	1178	1	EPHB1	3	134851754	Missense_Mutation	SNP	C	TCGA-04-1655-01A-01W-0633-09	56154951	134851754	63170676	12	1814											
PLCH1	23007	genome.wustl.edu	37	3	155203433	155203433	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:155203433T>A	ENST00000340059.7	-	22	2709	c.2710A>T	c.(2710-2712)Aat>Tat	p.N904Y	PLCH1_ENST00000334686.6_Missense_Mutation_p.N866Y|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000447496.2_Missense_Mutation_p.N904Y|PLCH1_ENST00000494598.1_Missense_Mutation_p.N884Y|PLCH1_ENST00000460012.1_Missense_Mutation_p.N866Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.N866Y	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	904					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TAATGGGAATTGTTTTCTGAA	0.463																																																0			3											85	83	84					3																	155203433		2203	4300	6503	156686127	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2710A>T	3.37:g.155203433T>A	ENSP00000345988:p.Asn904Tyr		156686127	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.510975	0.44660	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.32515	1.95;1.91;1.45;1.87;1.91;1.91	5.88	3.5	0.40072	.	1.124360	0.06374	N	0.714076	T	0.44307	0.1287	L	0.53249	1.67	0.09310	N	1	P;P;P	0.45715	0.659;0.865;0.855	P;P;B	0.52267	0.694;0.498;0.373	T	0.29640	-1.0005	10	0.66056	D	0.02	.	9.9706	0.41752	0.0:0.2415:0.0:0.7585	.	866;904;904	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Y	884;866;904;904;866;866	ENSP00000419100:N884Y;ENSP00000417502:N866Y;ENSP00000402759:N904Y;ENSP00000345988:N904Y;ENSP00000335469:N866Y;ENSP00000412977:N866Y	ENSP00000335469:N866Y	N	-	1	0	PLCH1	156686127	0.015000	0.18098	0.004000	0.12327	0.591000	0.36615	1.493000	0.35605	1.066000	0.40716	0.533000	0.62120	AAT		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		A	155203433	T	A	155203433	3	1	36	1	0	0	0	0	1	0	0	0	12037	1812	63	5	2394	5	PLCH1	3	155203433	Missense_Mutation	SNP	T	TCGA-04-1655-01A-01W-0633-09	20351679	155203433	42818997	13	1815											
OTOP1	133060	genome.wustl.edu	37	4	4199526	4199526	+	Silent	SNP	C	C	T	rs145547332	byFrequency	TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:4199526C>T	ENST00000296358.4	-	5	1059	c.1035G>A	c.(1033-1035)tcG>tcA	p.S345S		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	345					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGATGAGTGCCGACTCGCTCT	0.577													C|||	22	0.00439297	8e-04	0	5008	,	,		18223	0		0	False		,,,				2504	0.0215															0			4						C		2,4404	4.2+/-10.8	0,2,2201	49	48	48		1035	0.4	0.9	4	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous	OTOP1	NM_177998.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		345/613	4199526	2,13004	2203	4300	6503	4250427	SO:0001819	synonymous_variant	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1035G>A	4.37:g.4199526C>T			4250427	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.577	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4199526	C	T	4199526	2	4	36	1	0	0	0	0	0	0	0	1	11305	639	23	1		1	OTOP1	4	4199526	Silent	SNP	C	TCGA-04-1655-01A-01W-0633-09		4199526	186954750	14	1816											
ARAP2	116984	genome.wustl.edu	37	4	36126558	36126558	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:36126558T>A	ENST00000303965.4	-	22	4161	c.3672A>T	c.(3670-3672)aaA>aaT	p.K1224N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1224	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATGCTCCATATTTTTTAATTC	0.368																																																0			4											153	155	154					4																	36126558		2203	4300	6503	35802953	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3672A>T	4.37:g.36126558T>A	ENSP00000302895:p.Lys1224Asn		35802953	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485229	0.63962	.	.	ENSG00000047365	ENST00000303965	T	0.19250	2.16	5.24	-2.51	0.06365	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	M	0.67700	2.07	0.33940	D	0.643126	D	0.55385	0.971	P	0.59424	0.857	T	0.45527	-0.9255	10	0.49607	T	0.09	.	12.2014	0.54328	0.0:0.3602:0.0:0.6398	.	1224	Q8WZ64	ARAP2_HUMAN	N	1224	ENSP00000302895:K1224N	ENSP00000302895:K1224N	K	-	3	2	ARAP2	35802953	0.943000	0.32029	0.729000	0.30791	0.965000	0.64279	-0.050000	0.11904	-0.406000	0.07588	-0.472000	0.04984	AAA		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		A	36126558	T	A	36126558	3	1	36	1	0	0	0	0	1	0	0	0	839	1490	52	5	1490	5	ARAP2	4	36126558	Missense_Mutation	SNP	T	TCGA-04-1655-01A-01W-0633-09	31927032	36126558	155027718	15	1817											
EMCN	51705	genome.wustl.edu	37	4	101342460	101342460	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:101342460T>A	ENST00000296420.4	-	8	821	c.643A>T	c.(643-645)Atg>Ttg	p.M215L	EMCN_ENST00000511970.1_Missense_Mutation_p.M202L|EMCN_ENST00000305864.3_Intron	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	215						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TTCCAGCACATTCGGTACAAA	0.353																																																0			4											94	91	92					4																	101342460		2203	4300	6503	101561483	SO:0001583	missense	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.643A>T	4.37:g.101342460T>A	ENSP00000296420:p.Met215Leu		101561483	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261555	0.39995	.	.	ENSG00000164035	ENST00000296420;ENST00000511970;ENST00000502569	.	.	.	5.36	2.88	0.33553	.	0.385573	0.22592	N	0.058080	T	0.25269	0.0614	N	0.19112	0.55	0.22050	N	0.999391	B;B	0.15141	0.012;0.005	B;B	0.16722	0.016;0.011	T	0.16335	-1.0406	9	0.45353	T	0.12	-9.8579	6.449	0.21894	0.0:0.082:0.1569:0.761	.	202;215	B4E347;Q9ULC0	.;MUCEN_HUMAN	L	215;202;164	.	ENSP00000296420:M215L	M	-	1	0	EMCN	101561483	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	0.914000	0.28624	0.326000	0.23384	-0.274000	0.10170	ATG		0.353	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		A	101342460	T	A	101342460	3	1	36	1	0	0	0	0	1	0	0	0	5086	1493	52	5	158	5	EMCN	4	101342460	Missense_Mutation	SNP	T	TCGA-04-1655-01A-01W-0633-09	65215902	101342460	89811816	16	1818											
KIAA1109	84162	genome.wustl.edu	37	4	123168449	123168449	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:123168449G>C	ENST00000264501.4	+	35	5822	c.5449G>C	c.(5449-5451)Gaa>Caa	p.E1817Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E1817Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E1817Q			Q2LD37	K1109_HUMAN	KIAA1109	1817					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAGGCAAAGAAATTGCAGC	0.388																																																0			4											109	105	106					4																	123168449		1877	4124	6001	123387899	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5449G>C	4.37:g.123168449G>C	ENSP00000264501:p.Glu1817Gln		123387899	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.416251|4.416251	0.83449|0.83449	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|T	0.34667|0.32515	2.01;2.01;1.35|1.45	5.77|5.77	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.44285|.	U|.	0.000466|.	T|T	0.32556|0.32556	0.0833|0.0833	L|L	0.27053|0.27053	0.805|0.805	0.47737|0.47737	D|D	0.999503|0.999503	B;P|.	0.42871|.	0.221;0.792|.	B;B|.	0.37650|.	0.161;0.255|.	T|T	0.08086|0.08086	-1.0739|-1.0739	10|7	0.48119|0.44086	T|T	0.1|0.13	.|.	14.6677|14.6677	0.68921|0.68921	0.0695:0.0:0.9305:0.0|0.0695:0.0:0.9305:0.0	.|.	1816;1817|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	Q|N	1817|389	ENSP00000264501:E1817Q;ENSP00000373390:E1817Q;ENSP00000389925:E1817Q|ENSP00000394909:K389N	ENSP00000264501:E1817Q|ENSP00000394909:K389N	E|K	+|+	1|3	0|2	KIAA1109|KIAA1109	123387899|123387899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.763000|9.763000	0.98947|0.98947	1.455000|1.455000	0.47813|0.47813	0.585000|0.585000	0.79938|0.79938	GAA|AAG		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123168449	G	C	123168449	3	2	36	1	0	0	0	0	1	0	0	0	8208	943	33	3	5579	3	KIAA1109	4	123168449	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	21825989	123168449	67985827	17	1819											
FAT4	79633	genome.wustl.edu	37	4	126370779	126370779	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:126370779C>G	ENST00000394329.3	+	9	8621	c.8608C>G	c.(8608-8610)Cca>Gca	p.P2870A	FAT4_ENST00000335110.5_Missense_Mutation_p.P1168A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2870	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGACAATGCTCCAAGATTTAG	0.408																																																0			4											87	84	85					4																	126370779		2203	4299	6502	126590229	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8608C>G	4.37:g.126370779C>G	ENSP00000377862:p.Pro2870Ala		126590229	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804543	0.50315	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.88046	-2.33;-2.33	5.51	5.51	0.81932	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34268	U	0.004116	D	0.96172	0.8752	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.97106	0.9801	10	0.87932	D	0	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	1168;2870;2870	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	A	2870;1168	ENSP00000377862:P2870A;ENSP00000335169:P1168A	ENSP00000335169:P1168A	P	+	1	0	FAT4	126590229	1.000000	0.71417	0.942000	0.38095	0.215000	0.24574	7.621000	0.83083	2.746000	0.94184	0.655000	0.94253	CCA		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126370779	C	G	126370779	3	3	36	1	0	0	0	0	1	0	0	0	5692	855	30	3	8642	3	FAT4	4	126370779	Missense_Mutation	SNP	C	TCGA-04-1655-01A-01W-0633-09	3202330	126370779	64783497	18	1820											
FASTKD3	79072	genome.wustl.edu	37	5	7867144	7867144	+	Silent	SNP	A	A	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr5:7867144A>G	ENST00000264669.5	-	2	1189	c.1053T>C	c.(1051-1053)ttT>ttC	p.F351F	MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	351					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCTTTTGTAAAAAATGTGT	0.473																																																0			5											73	73	73					5																	7867144		2203	4300	6503	7920144	SO:0001819	synonymous_variant	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1053T>C	5.37:g.7867144A>G			7920144	Q9BVD3	Silent	SNP	ENST00000264669.5	37	CCDS3873.1																																																																																				0.473	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		G	7867144	A	G	7867144	2	3	36	1	0	0	0	0	0	0	0	1	5687	359	13	4		4	FASTKD3	5	7867144	Silent	SNP	A	TCGA-04-1655-01A-01W-0633-09		7867144	173048116	19	1821											
CDH10	1008	genome.wustl.edu	37	5	24487960	24487960	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr5:24487960C>T	ENST00000264463.4	-	12	2686	c.2179G>A	c.(2179-2181)Gca>Aca	p.A727T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	727					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGGGGGGTGCGGTGGGGTCA	0.458										HNSCC(23;0.051)																																						0			5																																								24523717	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2179G>A	5.37:g.24487960C>T	ENSP00000264463:p.Ala727Thr		24523717	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657163	0.88154	.	.	ENSG00000040731	ENST00000264463	T	0.78924	-1.22	5.92	5.92	0.95590	Cadherin, cytoplasmic domain (1);	0.089346	0.85682	D	0.000000	D	0.87966	0.6311	M	0.76838	2.35	0.58432	D	0.999997	D	0.76494	0.999	D	0.63793	0.918	D	0.88078	0.2805	10	0.62326	D	0.03	.	19.3088	0.94175	0.0:1.0:0.0:0.0	.	727	Q9Y6N8	CAD10_HUMAN	T	727	ENSP00000264463:A727T	ENSP00000264463:A727T	A	-	1	0	CDH10	24523717	1.000000	0.71417	0.364000	0.25888	0.917000	0.54804	7.702000	0.84576	2.809000	0.96659	0.655000	0.94253	GCA		0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		T	24487960	C	T	24487960	3	4	36	1	0	0	0	0	1	0	0	0	3096	768	27	1	191	1	CDH10	5	24487960	Missense_Mutation	SNP	C	TCGA-04-1655-01A-01W-0633-09	16620816	24487960	156427300	20	1822											
RNF180	285671	genome.wustl.edu	37	5	63510328	63510328	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr5:63510328G>C	ENST00000389100.4	+	4	1247	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.R392T	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	392	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AGGCGTGAAAGATGGCTACAG	0.368																																																0			5											51	56	54					5																	63510328		2158	4278	6436	63546084	SO:0001583	missense	285671			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"RING-type (C3HC4) zinc fingers"	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1175G>C	5.37:g.63510328G>C	ENSP00000373752:p.Arg392Thr		63546084	Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389726	0.42410	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.53206	0.63	5.85	5.85	0.93711	.	0.164703	0.50627	D	0.000112	T	0.61602	0.2360	M	0.67953	2.075	0.80722	D	1	P;D	0.76494	0.956;0.999	B;D	0.66351	0.444;0.943	T	0.63019	-0.6730	10	0.52906	T	0.07	-15.0525	8.6007	0.33742	0.162:0.0:0.838:0.0	.	392;392	Q86T96;Q86T96-2	RN180_HUMAN;.	T	392	ENSP00000373752:R392T	ENSP00000296615:R392T	R	+	2	0	RNF180	63546084	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.949000	0.56668	2.769000	0.95229	0.650000	0.86243	AGA		0.368	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		C	63510328	G	C	63510328	3	2	36	1	0	0	0	0	1	0	0	0	13467	942	33	3	1185	3	RNF180	5	63510328	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	39022368	63510328	117404932	21	1823											
HIST1H2BE	8344	genome.wustl.edu	37	6	26184080	26184080	+	Silent	SNP	G	G	T	rs529756458		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr6:26184080G>T	ENST00000356530.3	+	1	123	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	19					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V19V(1)		endometrium(1)|large_intestine(2)|lung(1)	4						AGAAGGCCGTGACCAAGGCGC	0.552																																																1	Substitution - coding silent(1)	large_intestine(1)	6											120	111	114					6																	26184080		2203	4300	6503	26292059	SO:0001819	synonymous_variant	8344			Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.57G>T	6.37:g.26184080G>T			26292059	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000356530.3	37	CCDS4588.1																																																																																				0.552	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		T	26184080	G	T	26184080	2	4	36	1	0	0	0	0	0	0	0	1	7144	1277	45	3		3	HIST1H2BE	6	26184080	Silent	SNP	G	TCGA-04-1655-01A-01W-0633-09		26184080	144930987	22	1824											
RPS10	6204	genome.wustl.edu	37	6	34392873	34392873	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr6:34392873G>T	ENST00000326199.8	-	2	219	c.126C>A	c.(124-126)aaC>aaA	p.N42K	RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Missense_Mutation_p.N42K|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.N42K	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	42					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						TGACATGAAGGTTGGGCACAT	0.542																																					Colon(121;749 1624 4895 8687 22360)											0			6											93	78	83					6																	34392873		2203	4300	6503	34500851	SO:0001583	missense	6204			U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"S ribosomal proteins"	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.126C>A	6.37:g.34392873G>T	ENSP00000347271:p.Asn42Lys		34500851	B2R4E3|Q5TZC0	Missense_Mutation	SNP	ENST00000326199.8	37	CCDS4792.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131853	0.56828	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	D;D	0.82433	-1.55;-1.61	5.3	0.869	0.19096	Plectin/S10, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81936	0.4928	M	0.93808	3.46	0.80722	D	1	B	0.18610	0.029	B	0.27076	0.076	T	0.79612	-0.1731	10	0.72032	D	0.01	-18.7678	14.2833	0.66228	0.2177:0.0:0.7823:0.0	.	42	P46783	RS10_HUMAN	K	42	ENSP00000347271:N42K;ENSP00000363169:N42K	ENSP00000347271:N42K	N	-	3	2	RPS10	34500851	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.997000	0.29731	0.082000	0.17018	0.491000	0.48974	AAC		0.542	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1			T	34392873	G	T	34392873	3	4	36	1	0	0	0	0	1	0	0	0	13623	1252	44	3	391	3	RPS10	6	34392873	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	8208793	34392873	136722194	23	1825											
TPBG	7162	genome.wustl.edu	37	6	83075392	83075392	+	Silent	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr6:83075392C>T	ENST00000369750.3	+	2	1331	c.714C>T	c.(712-714)caC>caT	p.H238H	TPBG_ENST00000535040.1_Silent_p.H238H|TPBG_ENST00000543496.1_Silent_p.H238H			Q13641	TPBG_HUMAN	trophoblast glycoprotein	238					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCCTCAGGCACCTGGACTTAA	0.607																																																0			6											75	81	79					6																	83075392		2203	4300	6503	83132111	SO:0001819	synonymous_variant	7162			AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.714C>T	6.37:g.83075392C>T			83132111	A8K555	Silent	SNP	ENST00000369750.3	37	CCDS4995.1																																																																																				0.607	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			T	83075392	C	T	83075392	2	4	36	1	0	0	0	0	0	0	0	1	16394	506	18	2		2	TPBG	6	83075392	Silent	SNP	C	TCGA-04-1655-01A-01W-0633-09	48682519	83075392	88039675	24	1826											
SCIN	85477	genome.wustl.edu	37	7	12668847	12668847	+	Splice_Site	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr7:12668847G>A	ENST00000297029.5	+	9	1420	c.1319G>A	c.(1318-1320)tGg>tAg	p.W440*	SCIN_ENST00000519209.1_Splice_Site_p.W193*|SCIN_ENST00000445618.2_Splice_Site_p.W193*	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	440	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ATCTACACGTGGTGAGTTTAT	0.403																																																0			7											151	141	144					7																	12668847		1878	4124	6002	12635372	SO:0001630	splice_region_variant	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1319+1G>A	7.37:g.12668847G>A			12635372	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Nonsense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455655	0.84209	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	.	.	.	5.24	5.24	0.73138	.	0.122269	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9518	19.197	0.93693	0.0:0.0:1.0:0.0	.	.	.	.	X	440;193;193	.	ENSP00000297029:W440X	W	+	2	0	SCIN	12635372	1.000000	0.71417	0.994000	0.49952	0.167000	0.22549	9.420000	0.97426	2.599000	0.87857	0.462000	0.41574	TGG		0.403	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128	Nonsense_Mutation	A	12668847	G	A	12668847	5	1	36	1	0	0	0	0	0	0	1	0	13908	1362	47	2	1353	2	SCIN	7	12668847	Splice_Site	SNP	G	TCGA-04-1655-01A-01W-0633-09		12668847	146469816	25	1827											
CPVL	54504	genome.wustl.edu	37	7	29105640	29105640	+	Splice_Site	SNP	G	G	C	rs376043843		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr7:29105640G>C	ENST00000409850.1	-	14	1608	c.962C>G	c.(961-963)aCg>aGg	p.T321R	CPVL_ENST00000396276.3_Splice_Site_p.T321R|CPVL_ENST00000265394.5_Splice_Site_p.T321R			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	321						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGTCATTACCGTGCACCGCAA	0.323																																																0			7											102	100	101					7																	29105640		2203	4300	6503	29072165	SO:0001630	splice_region_variant	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.963+1C>G	7.37:g.29105640G>C			29072165	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858956	0.17178	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995	T;T;T	0.30448	1.53;1.53;1.53	5.42	-5.77	0.02369	.	0.466272	0.23700	N	0.045433	T	0.14743	0.0356	L	0.31664	0.95	0.38250	D	0.94156	B	0.17465	0.022	B	0.23275	0.045	T	0.07947	-1.0746	10	0.21540	T	0.41	-7.6804	6.2195	0.20673	0.2871:0.0:0.1669:0.5461	.	321	Q9H3G5	CPVL_HUMAN	R	321;321;321;205	ENSP00000265394:T321R;ENSP00000379572:T321R;ENSP00000387164:T321R	ENSP00000265394:T321R	T	-	2	0	CPVL	29072165	1.000000	0.71417	0.939000	0.37840	0.476000	0.33039	0.513000	0.22770	-0.773000	0.04596	-0.469000	0.05056	ACG		0.323	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	Missense_Mutation	C	29105640	G	C	29105640	5	2	36	1	0	0	0	0	0	0	1	0	3835	1159	40	3	484	3	CPVL	7	29105640	Splice_Site	SNP	G	TCGA-04-1655-01A-01W-0633-09	16436793	29105640	130033023	26	1828											
GTF2I	2969	genome.wustl.edu	37	7	74159108	74159108	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr7:74159108G>A	ENST00000324896.4	+	21	2151	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	GTF2I_ENST00000353920.4_Missense_Mutation_p.G568R|GTF2I_ENST00000416070.1_Missense_Mutation_p.G547R|GTF2I_ENST00000346152.4_Missense_Mutation_p.G567R|GTF2I_ENST00000438130.2_3'UTR	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	588					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCAAGCTCTTGGACTCACCGA	0.463																																																0			7											1	1	1					7																	74159108		166	328	494	73797044	SO:0001583	missense	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1762G>A	7.37:g.74159108G>A	ENSP00000322542:p.Gly588Arg		73797044	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698154	0.68386	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.78966	0.4367	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.63046	0.992;0.989;0.979;0.979;0.983	D;P;P;P;D	0.65443	0.935;0.893;0.858;0.892;0.913	T	0.82345	-0.0503	10	0.87932	D	0	-23.9106	17.2923	0.87160	0.0:0.0:1.0:0.0	.	566;547;568;567;588	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	R	588;583;568;567;547	ENSP00000322542:G588R;ENSP00000322671:G568R;ENSP00000322599:G567R;ENSP00000387651:G547R	ENSP00000322542:G588R	G	+	1	0	GTF2I	73797044	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.509000	0.81698	2.339000	0.79563	0.456000	0.33151	GGA		0.463	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		A	74159108	G	A	74159108	3	1	36	1	0	0	0	0	1	0	0	0	6867	1349	47	2	1840	2	GTF2I	7	74159108	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	45053468	74159108	84979555	27	1829											
CTTNBP2	83992	genome.wustl.edu	37	7	117431498	117431498	+	Silent	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr7:117431498C>T	ENST00000160373.3	-	4	1843	c.1752G>A	c.(1750-1752)gtG>gtA	p.V584V	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	584					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGTCGAAGCCACAGTTTTGT	0.517																																																0			7											89	93	92					7																	117431498		2203	4300	6503	117218734	SO:0001819	synonymous_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1752G>A	7.37:g.117431498C>T			117218734	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	6.136	0.393318	0.11638	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.74	4.87	0.63330	.	.	.	.	.	T	0.60534	0.2276	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59134	-0.7511	4	.	.	.	-8.7557	9.5103	0.39074	0.0:0.7883:0.0:0.2117	.	.	.	.	S	113	.	.	G	-	1	0	CTTNBP2	117218734	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.459000	0.35234	1.571000	0.49722	0.563000	0.77884	GGC		0.517	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		T	117431498	C	T	117431498	2	4	36	1	0	0	0	0	0	0	0	1	4045	581	21	2		2	CTTNBP2	7	117431498	Silent	SNP	C	TCGA-04-1655-01A-01W-0633-09	43272390	117431498	41707165	28	1830											
RUNX1T1	862	genome.wustl.edu	37	8	92972688	92972688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr8:92972688G>A	ENST00000523629.1	-	12	2051	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.R506*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.R533*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.R506*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.R544*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.R496*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	533					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R533R(1)|p.R544R(1)|p.R496R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCACAGTATCGGGCTGTGTTA	0.517																																																3	Substitution - coding silent(3)	lung(3)	8											74	69	70					8																	92972688		2203	4300	6503	93041864	SO:0001587	stop_gained	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1597C>T	8.37:g.92972688G>A	ENSP00000428543:p.Arg533*		93041864	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926063	0.92319	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	.	.	.	5.86	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.668	17.7086	0.88315	0.0:0.0:0.869:0.131	.	.	.	.	X	533;506;533;496;496;496;544;506	.	ENSP00000265814:R533X	R	-	1	2	RUNX1T1	93041864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.919000	0.87513	2.777000	0.95525	0.655000	0.94253	CGA		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		A	92972688	G	A	92972688	4	1	36	1	0	0	0	0	0	1	0	0	13750	1124	39	1	221	1	RUNX1T1	8	92972688	Nonsense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09		92972688	53391334	29	1831											
DOCK8	81704	genome.wustl.edu	37	9	286554	286554	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr9:286554G>C	ENST00000453981.1	+	3	362	c.250G>C	c.(250-252)Ggg>Cgg	p.G84R	DOCK8_ENST00000469391.1_Missense_Mutation_p.G16R|DOCK8_ENST00000432829.2_Missense_Mutation_p.G16R			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	84					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCAGGAGCTCGGGGACTTCAC	0.517																																																0			9											122	107	112					9																	286554		2203	4300	6503	276554	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.250G>C	9.37:g.286554G>C	ENSP00000408464:p.Gly84Arg		276554	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488630	0.44249	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000479404;ENST00000487230;ENST00000469391	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	M	0.63428	1.95	0.50813	D	0.999895	D;D;D	0.89917	1.0;0.997;0.993	D;D;D	0.97110	1.0;0.949;0.94	T	0.64287	-0.6443	10	0.54805	T	0.06	.	19.3432	0.94352	0.0:0.0:1.0:0.0	.	16;84;84	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	R	84;84;16;16;16;16	ENSP00000408464:G84R;ENSP00000394888:G16R;ENSP00000417082:G16R;ENSP00000418318:G16R;ENSP00000419438:G16R	ENSP00000287364:G84R	G	+	1	0	DOCK8	276554	1.000000	0.71417	0.985000	0.45067	0.022000	0.10575	6.241000	0.72369	2.574000	0.86865	0.563000	0.77884	GGG		0.517	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		C	286554	G	C	286554	3	2	36	1	0	0	0	0	1	0	0	0	4693	1116	39	3	260	3	DOCK8	9	286554	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09		286554	140926877	30	1832											
KIF27	55582	genome.wustl.edu	37	9	86518419	86518419	+	Silent	SNP	T	T	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr9:86518419T>G	ENST00000297814.2	-	4	1157	c.1014A>C	c.(1012-1014)gcA>gcC	p.A338A	KIF27_ENST00000413982.1_Silent_p.A338A|KIF27_ENST00000334204.2_Silent_p.A338A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	338	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TAATGTTCCGTGCTCTGTTGG	0.433																																																0			9											108	106	107					9																	86518419		2203	4300	6503	85708239	SO:0001819	synonymous_variant	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1014A>C	9.37:g.86518419T>G			85708239	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	ENST00000297814.2	37	CCDS6665.1																																																																																				0.433	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		G	86518419	T	G	86518419	2	3	36	1	0	0	0	0	0	0	0	1	8296	1683	59	5		5	KIF27	9	86518419	Silent	SNP	T	TCGA-04-1655-01A-01W-0633-09	86231865	86518419	54695012	31	1833											
MUSK	4593	genome.wustl.edu	37	9	113431230	113431230	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr9:113431230G>C	ENST00000374448.4	+	1	180	c.46G>C	c.(46-48)Gtt>Ctt	p.V16L	MUSK_ENST00000416899.2_Missense_Mutation_p.V16L|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.V16L	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	16					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTTACTCTGGTTGCCTTCAG	0.433																																																0			9											339	325	329					9																	113431230		1902	4125	6027	112471051	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.46G>C	9.37:g.113431230G>C	ENSP00000363571:p.Val16Leu		112471051	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340915	0.60963	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.73047	-0.71	5.18	5.18	0.71444	.	0.367970	0.22679	N	0.056969	T	0.54191	0.1843	N	0.08118	0	0.80722	D	1	B;B	0.30236	0.004;0.274	B;B	0.31869	0.004;0.137	T	0.54463	-0.8290	10	0.31617	T	0.26	.	17.2813	0.87129	0.0:0.0:1.0:0.0	.	16;16	O15146;F5H6T2	MUSK_HUMAN;.	L	16	ENSP00000363571:V16L	ENSP00000189978:V16L	V	+	1	0	MUSK	112471051	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.930000	0.56522	2.437000	0.82529	0.557000	0.71058	GTT		0.433	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	113431230	G	C	113431230	3	2	36	1	0	0	0	0	1	0	0	0	9989	1261	44	3	48	3	MUSK	9	113431230	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	26912811	113431230	27782201	32	1834											
KRTAP5-6	440023	genome.wustl.edu	37	11	1718848	1718848	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr11:1718848T>G	ENST00000382160.1	+	1	424	c.373T>G	c.(373-375)Tgc>Ggc	p.C125G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	125						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCATTTGCTGCCAGTGCAA	0.567																																																0			11											117	128	124					11																	1718848		2202	4299	6501	1675424	SO:0001583	missense	440023			AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"Keratin associated proteins"	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.373T>G	11.37:g.1718848T>G	ENSP00000371595:p.Cys125Gly		1675424	A1L452	Missense_Mutation	SNP	ENST00000382160.1	37	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	t	1.395	-0.579817	0.03854	.	.	ENSG00000205864	ENST00000382160	T	0.07688	3.17	4.11	2.95	0.34219	.	.	.	.	.	T	0.12689	0.0308	M	0.78801	2.425	0.25203	N	0.990034	B	0.06786	0.001	B	0.11329	0.006	T	0.16808	-1.0390	9	0.72032	D	0.01	.	7.7435	0.28856	0.0:0.0:0.213:0.787	.	125	Q6L8G9	KRA56_HUMAN	G	125	ENSP00000371595:C125G	ENSP00000371595:C125G	C	+	1	0	KRTAP5-6	1675424	1.000000	0.71417	0.975000	0.42487	0.025000	0.11179	1.441000	0.35035	0.441000	0.26529	0.429000	0.28392	TGC		0.567	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			G	1718848	T	G	1718848	3	3	36	1	0	0	0	0	1	0	0	0	8565	1580	55	5	375	5	KRTAP5-6	11	1718848	Missense_Mutation	SNP	T	TCGA-04-1655-01A-01W-0633-09		1718848	133287668	33	1835											
SYT12	91683	genome.wustl.edu	37	11	66816175	66816175	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr11:66816175T>A	ENST00000393946.2	+	11	2375	c.1213T>A	c.(1213-1215)Ttg>Atg	p.L405M	SYT12_ENST00000525457.1_Missense_Mutation_p.L405M|SYT12_ENST00000527043.1_Missense_Mutation_p.L405M			Q8IV01	SYT12_HUMAN	synaptotagmin XII	405						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GAACCAGATGTTGGCCACGCT	0.647																																					Ovarian(65;2862 3307)											0			11											118	86	97					11																	66816175		2200	4295	6495	66572751	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1213T>A	11.37:g.66816175T>A	ENSP00000377520:p.Leu405Met		66572751		Missense_Mutation	SNP	ENST00000393946.2	37	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458689	0.63401	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.09255	3.0;3.0;3.0	4.47	1.51	0.23008	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000016	T	0.13329	0.0323	L	0.28776	0.89	0.58432	D	0.999997	D	0.54772	0.968	P	0.56278	0.795	T	0.03344	-1.1046	10	0.66056	D	0.02	.	6.7118	0.23282	0.0:0.5816:0.0:0.4184	.	405	Q8IV01	SYT12_HUMAN	M	405	ENSP00000377520:L405M;ENSP00000431400:L405M;ENSP00000435316:L405M	ENSP00000377520:L405M	L	+	1	2	SYT12	66572751	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	1.125000	0.31332	0.098000	0.17522	0.260000	0.18958	TTG		0.647	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		A	66816175	T	A	66816175	3	1	36	1	0	0	0	0	1	0	0	0	15468	1722	60	5	1239	5	SYT12	11	66816175	Missense_Mutation	SNP	T	TCGA-04-1655-01A-01W-0633-09	65097327	66816175	68190341	34	1836											
BCL9L	283149	genome.wustl.edu	37	11	118773711	118773711	+	Silent	SNP	G	G	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr11:118773711G>T	ENST00000334801.3	-	5	1786	c.822C>A	c.(820-822)gcC>gcA	p.A274A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	274					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTCAAGCTTGGCCCGGGGCA	0.652																																																0			11											27	27	27					11																	118773711		2197	4291	6488	118278921	SO:0001819	synonymous_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.822C>A	11.37:g.118773711G>T			118278921	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	CCDS8403.1																																																																																				0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		T	118773711	G	T	118773711	2	4	36	1	0	0	0	0	0	0	0	1	1382	1335	47	3		3	BCL9L	11	118773711	Silent	SNP	G	TCGA-04-1655-01A-01W-0633-09	51957536	118773711	16232805	35	1837											
ANO6	196527	genome.wustl.edu	37	12	45797309	45797309	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr12:45797309G>C	ENST00000320560.8	+	15	2072	c.1870G>C	c.(1870-1872)Gta>Cta	p.V624L	ANO6_ENST00000435642.1_Missense_Mutation_p.V624L|ANO6_ENST00000441606.2_Missense_Mutation_p.V606L|ANO6_ENST00000423947.3_Missense_Mutation_p.V645L|ANO6_ENST00000425752.2_Missense_Mutation_p.V624L|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	624					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CATACAAGAAGTATTATTGCC	0.418																																																0			12											90	84	86					12																	45797309		2203	4300	6503	44083576	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1870G>C	12.37:g.45797309G>C	ENSP00000320087:p.Val624Leu		44083576	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	8.193	0.796505	0.16327	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.31578	0.945	0.52501	D	0.999955	B;B;P;B	0.43231	0.314;0.003;0.801;0.014	B;B;P;B	0.44696	0.285;0.028;0.458;0.03	T	0.42849	-0.9427	10	0.06625	T	0.88	.	11.3853	0.49782	0.1425:0.0:0.8575:0.0	.	606;645;624;624	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	L	624;645;624;624;606	ENSP00000391417:V624L;ENSP00000409126:V645L;ENSP00000413840:V624L;ENSP00000320087:V624L;ENSP00000413137:V606L	ENSP00000320087:V624L	V	+	1	0	ANO6	44083576	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	5.822000	0.69265	2.878000	0.98634	0.650000	0.86243	GTA		0.418	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		C	45797309	G	C	45797309	3	2	36	1	0	0	0	0	1	0	0	0	701	1029	36	3	1948	3	ANO6	12	45797309	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09		45797309	88054586	36	1838											
KRT78	196374	genome.wustl.edu	37	12	53241716	53241716	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr12:53241716C>A	ENST00000304620.4	-	2	637	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	KRT78_ENST00000359499.4_Missense_Mutation_p.D82Y	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	192	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCCTCCTGGTCCCGGCAGGCC	0.592																																																0			12											79	82	81					12																	53241716		2203	4300	6503	51527983	SO:0001583	missense	196374			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.574G>T	12.37:g.53241716C>A	ENSP00000306261:p.Asp192Tyr		51527983	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898681	0.52227	.	.	ENSG00000170423	ENST00000359499;ENST00000304620	D;T	0.89681	-2.55;-0.96	5.21	1.35	0.21983	Filament (1);	0.243651	0.21349	N	0.075981	D	0.93716	0.7992	H	0.94264	3.515	0.28015	N	0.934733	D	0.62365	0.991	P	0.60345	0.873	D	0.87304	0.2307	10	0.72032	D	0.01	.	5.2321	0.15428	0.1337:0.566:0.0:0.3002	.	192	Q8N1N4	K2C78_HUMAN	Y	82;192	ENSP00000352479:D82Y;ENSP00000306261:D192Y	ENSP00000306261:D192Y	D	-	1	0	KRT78	51527983	0.007000	0.16637	0.937000	0.37676	0.613000	0.37349	0.264000	0.18497	0.045000	0.15804	0.555000	0.69702	GAC		0.592	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		A	53241716	C	A	53241716	3	1	36	1	0	0	0	0	1	0	0	0	8491	855	30	3	1020	3	KRT78	12	53241716	Missense_Mutation	SNP	C	TCGA-04-1655-01A-01W-0633-09	7444407	53241716	80610179	37	1839											
ACTR6	64431	genome.wustl.edu	37	12	100617667	100617667	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr12:100617667G>C	ENST00000188312.2	+	11	1930	c.1165G>C	c.(1165-1167)Gtc>Ctc	p.V389L	ACTR6_ENST00000546902.1_Missense_Mutation_p.V307L|ACTR6_ENST00000552376.1_Missense_Mutation_p.V369L|ACTR6_ENST00000551617.1_Missense_Mutation_p.V287L	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	389						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TGGACATAGCGTCTGTGAAGA	0.323																																																0			12											109	110	110					12																	100617667		2203	4300	6503	99141798	SO:0001583	missense	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1165G>C	12.37:g.100617667G>C	ENSP00000188312:p.Val389Leu		99141798	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705290	0.15172	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.94497	-3.44;-3.44;3.16;3.16	5.95	0.281	0.15687	.	0.266996	0.38164	N	0.001795	D	0.85660	0.5748	N	0.05330	-0.07	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.73685	-0.3905	10	0.46703	T	0.11	.	11.7874	0.52049	0.8576:0.0:0.1424:0.0	.	287;369;389	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	L	389;307;369;287	ENSP00000188312:V389L;ENSP00000448669:V307L;ENSP00000447237:V369L;ENSP00000448356:V287L	ENSP00000188312:V389L	V	+	1	0	ACTR6	99141798	0.998000	0.40836	0.202000	0.23494	0.941000	0.58515	1.529000	0.35996	-0.148000	0.11234	0.655000	0.94253	GTC		0.323	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		C	100617667	G	C	100617667	3	2	36	1	0	0	0	0	1	0	0	0	216	1145	40	3	1207	3	ACTR6	12	100617667	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	47375951	100617667	33234228	38	1840											
DDX54	79039	genome.wustl.edu	37	12	113603663	113603663	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr12:113603663G>T	ENST00000306014.5	-	13	1616	c.1589C>A	c.(1588-1590)tCc>tAc	p.S530Y	DDX54_ENST00000314045.7_Missense_Mutation_p.S530Y	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	530					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCTTGATGGACTCAGGCGA	0.662																																																0			12											43	42	42					12																	113603663		2203	4300	6503	112088046	SO:0001583	missense	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1589C>A	12.37:g.113603663G>T	ENSP00000304072:p.Ser530Tyr		112088046	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130013	0.56721	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.15139	2.45;2.45	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.66740	-0.5847	10	0.87932	D	0	.	17.1136	0.86682	0.0:0.0:1.0:0.0	.	530;530	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	Y	530	ENSP00000323858:S530Y;ENSP00000304072:S530Y	ENSP00000304072:S530Y	S	-	2	0	DDX54	112088046	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.233000	0.95337	2.354000	0.79902	0.561000	0.74099	TCC		0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		T	113603663	G	T	113603663	3	4	36	1	0	0	0	0	1	0	0	0	4372	1174	41	3	1091	3	DDX54	12	113603663	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	12985996	113603663	20248232	39	1841											
C13orf33	84935	genome.wustl.edu	37	13	31495769	31495769	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr13:31495769C>A	ENST00000380482.4	+	4	898	c.573C>A	c.(571-573)agC>agA	p.S191R	TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586973.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	191					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											AAAATTTAAGCTTTGCATATG	0.348																																																0			13											97	98	97					13																	31495769		2203	4300	6503	30393769	SO:0001583	missense	84935			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.573C>A	13.37:g.31495769C>A	ENSP00000369849:p.Ser191Arg		30393769	Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	ENST00000380482.4	37	CCDS9338.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447307	0.25987	.	.	ENSG00000102802	ENST00000380482	T	0.49139	0.79	5.47	-0.195	0.13236	.	0.267705	0.43747	D	0.000540	T	0.32285	0.0824	L	0.27053	0.805	0.24382	N	0.994787	B	0.31859	0.343	B	0.33254	0.16	T	0.29088	-1.0023	10	0.72032	D	0.01	-15.3446	10.312	0.43714	0.0:0.575:0.0:0.425	.	191	Q5VYS4	CM033_HUMAN	R	191	ENSP00000369849:S191R	ENSP00000369849:S191R	S	+	3	2	C13orf33	30393769	0.995000	0.38212	0.339000	0.25562	0.032000	0.12392	0.121000	0.15667	-0.007000	0.14345	0.563000	0.77884	AGC		0.348	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		A	31495769	C	A	31495769	3	1	36	1	0	0	0	0	1	0	0	0	1727	796	28	3	587	3	C13orf33	13	31495769	Missense_Mutation	SNP	C	TCGA-04-1655-01A-01W-0633-09		31495769	83674109	40	1842											
CCDC33	80125	genome.wustl.edu	37	15	74564054	74564054	+	Missense_Mutation	SNP	G	G	A	rs77562762	byFrequency	TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr15:74564054G>A	ENST00000398814.3	+	6	988	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	CCDC33_ENST00000321288.5_Missense_Mutation_p.R389Q	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	389										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATCTTTCTCCGGGGAGTCAAC	0.582													g|||	147	0.029353	0.1089	0.0043	5008	,	,		17150	0		0	False		,,,				2504	0															0			15							GLN/ARG	355,3625		16,323,1651	37	40	39		557	0.4	1	15	dbSNP_131	39	2,8288		0,2,4143	yes	missense	CCDC33	NM_025055.3	43	16,325,5794	AA,AG,GG		0.0241,8.9196,2.9095	possibly-damaging	186/756	74564054	357,11913	1990	4145	6135	72351107	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.557G>A	15.37:g.74564054G>A	ENSP00000381795:p.Arg186Gln		72351107	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	61	0.027930402930402932	59	0.11991869918699187	2	0.0055248618784530384	0	0.0	0	0.0	g	15.31	2.794599	0.50102	0.089196	2.41E-4	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.24908	1.83;2.19	4.48	0.453	0.16639	.	0.773622	0.11104	N	0.599308	T	0.00300	0.0009	M	0.62723	1.935	0.20563	N	0.999881	D;P	0.54047	0.964;0.935	B;B	0.41571	0.315;0.36	T	0.06991	-1.0796	10	0.36615	T	0.2	.	3.2346	0.06760	0.3037:0.0:0.5114:0.1848	.	389;186	C9JFX2;Q8N5R6-6	.;.	Q	389;186	ENSP00000325012:R389Q;ENSP00000381795:R186Q	ENSP00000325012:R389Q	R	+	2	0	CCDC33	72351107	0.000000	0.05858	0.953000	0.39169	0.935000	0.57460	0.030000	0.13688	-0.066000	0.12998	-0.260000	0.10688	CGG		0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		A	74564054	G	A	74564054	3	1	36	1	0	0	0	0	1	0	0	0	2806	1116	39	1	579	1	CCDC33	15	74564054	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09		74564054	27967338	41	1843											
CLUAP1	23059	genome.wustl.edu	37	16	3558458	3558458	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr16:3558458T>G	ENST00000576634.1	+	4	533	c.389T>G	c.(388-390)cTt>cGt	p.L130R	CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Missense_Mutation_p.L130R|CLUAP1_ENST00000572600.1_5'Flank|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000571025.1_Missense_Mutation_p.L130R	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	130					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AAGTTTGATCTTGGCTCAAAG	0.458																																																0			16											130	111	117					16																	3558458		2197	4300	6497	3498459	SO:0001583	missense	23059			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.389T>G	16.37:g.3558458T>G	ENSP00000460850:p.Leu130Arg		3498459	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989954	0.54041	.	.	ENSG00000103351	ENST00000341633	T	0.52526	0.66	4.89	4.89	0.63831	.	0.201917	0.41500	D	0.000876	T	0.67636	0.2914	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.71636	-0.4533	10	0.62326	D	0.03	-14.4315	12.4561	0.55706	0.0:0.0:0.0:1.0	.	130	Q96AJ1	CLUA1_HUMAN	R	130	ENSP00000344392:L130R	ENSP00000344392:L130R	L	+	2	0	CLUAP1	3498459	1.000000	0.71417	0.937000	0.37676	0.226000	0.24999	7.544000	0.82117	1.840000	0.53500	0.383000	0.25322	CTT		0.458	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		G	3558458	T	G	3558458	3	3	36	1	0	0	0	0	1	0	0	0	3569	1609	56	5	403	5	CLUAP1	16	3558458	Missense_Mutation	SNP	T	TCGA-04-1655-01A-01W-0633-09		3558458	86796295	42	1844											
ALG1	56052	genome.wustl.edu	37	16	5133715	5133715	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr16:5133715G>A	ENST00000262374.5	+	12	1251	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D	ALG1_ENST00000544428.1_Missense_Mutation_p.G296D|ALG1_ENST00000588623.1_Missense_Mutation_p.G296D	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	407					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				GAAGAAAATGGCCTGGTCTTT	0.587																																																0			16											32	39	37					16																	5133715		1345	2293	3638	5073716	SO:0001583	missense	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1220G>A	16.37:g.5133715G>A	ENSP00000262374:p.Gly407Asp		5073716	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382637	0.61845	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	D;D	0.86164	-2.08;-2.08	5.12	5.12	0.69794	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.95421	0.8513	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96682	0.9504	10	0.87932	D	0	-20.9201	17.1593	0.86800	0.0:0.0:1.0:0.0	.	296;407	B4DP08;Q9BT22	.;ALG1_HUMAN	D	407;296	ENSP00000262374:G407D;ENSP00000440019:G296D	ENSP00000262374:G407D	G	+	2	0	ALG1	5073716	1.000000	0.71417	0.994000	0.49952	0.111000	0.19643	8.662000	0.91130	2.402000	0.81655	0.650000	0.86243	GGC		0.587	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		A	5133715	G	A	5133715	3	1	36	1	0	0	0	0	1	0	0	0	510	1203	42	2	1266	2	ALG1	16	5133715	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	1575257	5133715	85221038	43	1845											
SRCAP	10847	genome.wustl.edu	37	16	30750759	30750759	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr16:30750759C>A	ENST00000262518.4	+	34	9783	c.9398C>A	c.(9397-9399)aCt>aAt	p.T3133N	SRCAP_ENST00000395059.2_Missense_Mutation_p.T3071N|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.T2975N	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3133					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCACTAGAGACTGAGAAGTTG	0.652																																																0			16											36	41	39					16																	30750759		2197	4300	6497	30658260	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9398C>A	16.37:g.30750759C>A	ENSP00000262518:p.Thr3133Asn		30658260	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	7.999	0.754898	0.15846	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90955	-2.73;-2.76;-2.75	4.97	2.86	0.33363	.	0.291214	0.24681	N	0.036461	T	0.80287	0.4595	N	0.08118	0	0.22639	N	0.998903	B;B	0.22983	0.078;0.047	B;B	0.21917	0.037;0.017	T	0.74028	-0.3796	10	0.72032	D	0.01	-9.5383	11.7738	0.51975	0.0:0.5453:0.4547:0.0	.	3071;3133	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	N	3133;3071;2975	ENSP00000262518:T3133N;ENSP00000378499:T3071N;ENSP00000343042:T2975N	ENSP00000262518:T3133N	T	+	2	0	SRCAP	30658260	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.300000	0.19156	1.280000	0.44463	0.462000	0.41574	ACT		0.652	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		A	30750759	C	A	30750759	3	1	36	1	0	0	0	0	1	0	0	0	15137	565	20	3	9524	3	SRCAP	16	30750759	Missense_Mutation	SNP	C	TCGA-04-1655-01A-01W-0633-09	25617044	30750759	59603994	44	1846											
CHD9	80205	genome.wustl.edu	37	16	53289530	53289530	+	Nonsense_Mutation	SNP	A	A	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr16:53289530A>T	ENST00000398510.3	+	18	4135	c.4048A>T	c.(4048-4050)Aag>Tag	p.K1350*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.K1350*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.K1350*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.K1350*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1350					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCTTTCCAAAAAGGAAATAGA	0.343																																																0			16											95	89	91					16																	53289530		1827	4099	5926	51847031	SO:0001587	stop_gained	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4048A>T	16.37:g.53289530A>T	ENSP00000381522:p.Lys1350*		51847031	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	A	45	11.813977	0.99605	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3246	16.1069	0.81230	1.0:0.0:0.0:0.0	.	.	.	.	X	1350;1350;876	.	ENSP00000219084:K876X	K	+	1	0	CHD9	51847031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.281000	0.95811	2.198000	0.70561	0.528000	0.53228	AAG		0.343	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		T	53289530	A	T	53289530	4	4	36	1	0	0	0	0	0	1	0	0	3332	15	1	5	4118	5	CHD9	16	53289530	Nonsense_Mutation	SNP	A	TCGA-04-1655-01A-01W-0633-09	22538771	53289530	37065223	45	1847											
TP53	7157	genome.wustl.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	A	rs587782664		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr17:7577570C>A	ENST00000269305.4	-	7	900	c.711G>T	c.(709-711)atG>atT	p.M237I	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	0.567		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"	139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	17	GRCh37	CM011014	TP53	M							130	102	112					17																	7577570		2203	4300	6503	7518295	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.711G>T	17.37:g.7577570C>A	ENSP00000269305:p.Met237Ile		7518295	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282984	0.80692	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	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	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577570	C	A	7577570	3	1	36	1	0	0	0	0	1	0	0	0	16381	478	17	3	579	3	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-04-1655-01A-01W-0633-09		7577570	73617640	46	1848											
MYH8	4626	genome.wustl.edu	37	17	10317251	10317251	+	Missense_Mutation	SNP	C	C	G	rs144477514		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr17:10317251C>G	ENST00000403437.2	-	12	1209	c.1115G>C	c.(1114-1116)cGt>cCt	p.R372P	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	372	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCTCCTCACGCTGCTTTTG	0.408									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0			17											175	167	170					17																	10317251		2203	4300	6503	10257976	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1115G>C	17.37:g.10317251C>G	ENSP00000384330:p.Arg372Pro		10257976	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403479	0.83230	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.87809	-2.3	4.85	4.85	0.62838	Myosin head, motor domain (2);	0.000000	0.37577	U	0.002038	D	0.95137	0.8424	M	0.92649	3.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96183	0.9132	10	0.87932	D	0	.	18.164	0.89719	0.0:1.0:0.0:0.0	.	372	P13535	MYH8_HUMAN	P	372	ENSP00000384330:R372P	ENSP00000252173:R372P	R	-	2	0	MYH8	10257976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.534000	0.85438	0.650000	0.86243	CGT		0.408	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		G	10317251	C	G	10317251	3	3	36	1	0	0	0	0	1	0	0	0	10041	536	19	3	4814	3	MYH8	17	10317251	Missense_Mutation	SNP	C	TCGA-04-1655-01A-01W-0633-09	2739681	10317251	70877959	47	1849											
FBN3	84467	genome.wustl.edu	37	19	8201138	8201140	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	GGG	GGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:8201138_8201140delGGG	ENST00000600128.1	-	12	1813_1815	c.1399_1401delCCC	c.(1399-1401)cccdel	p.P467del	FBN3_ENST00000601739.1_In_Frame_Del_p.P467del|FBN3_ENST00000270509.2_In_Frame_Del_p.P467del			Q75N90	FBN3_HUMAN	fibrillin 3	467	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTAGGTGCCGGGGATGTTGACG	0.635																																																0			19																																								8107140	SO:0001651	inframe_deletion	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1399_1401delCCC	19.37:g.8201138_8201140delGGG	ENSP00000470498:p.Pro467del		8107138	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	In_Frame_Del	DEL	ENST00000600128.1	37	CCDS12196.1																																																																																				0.635	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		-	8201140	GGG	-	8201138	7	5	36	1	0	1	0	1	0	0	0	0	5704	1103	39	0	7240	0	FBN3	19	8201138	In_Frame_Del	DEL	GGG	TCGA-04-1655-01A-01W-0633-09		8201138	50927845	48	1850											
ZNF627	199692	genome.wustl.edu	37	19	11727511	11727511	+	Splice_Site	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:11727511C>T	ENST00000361113.5	+	4	401	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	ZNF627_ENST00000588174.1_Intron	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TCTGACAAGTCATATTCCAGA	0.303																																					Melanoma(112;173 1614 10731 17751 23322)											0			19											41	39	40					19																	11727511		1819	4096	5915	11588511	SO:0001630	splice_region_variant	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.192-1C>T	19.37:g.11727511C>T			11588511	O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	c	2.092	-0.408101	0.04832	.	.	ENSG00000198551	ENST00000361113	T	0.07216	3.21	1.23	0.0729	0.14389	Krueppel-associated box (2);	.	.	.	.	T	0.09730	0.0239	M	0.69523	2.12	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30534	-0.9975	9	0.51188	T	0.08	.	4.3727	0.11255	0.3885:0.6115:0.0:0.0	.	65	Q7L945	ZN627_HUMAN	Y	65	ENSP00000354414:H65Y	ENSP00000354414:H65Y	H	+	1	0	ZNF627	11588511	0.000000	0.05858	0.002000	0.10522	0.131000	0.20780	0.019000	0.13444	0.079000	0.16929	0.313000	0.20887	CAT		0.303	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295	Missense_Mutation	T	11727511	C	T	11727511	5	4	36	1	0	0	0	0	0	0	1	0	18051	840	29	2	207	2	ZNF627	19	11727511	Splice_Site	SNP	C	TCGA-04-1655-01A-01W-0633-09	3526373	11727511	47401472	49	1851											
ZNF492	57615	genome.wustl.edu	37	19	22847916	22847916	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:22847916G>A	ENST00000456783.2	+	4	1689	c.1445G>A	c.(1444-1446)tGt>tAt	p.C482Y	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGTGAAGAATGTGGCAAAGCC	0.373																																																0			19											27	39	35					19																	22847916		2024	4246	6270	22639756	SO:0001583	missense	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1445G>A	19.37:g.22847916G>A	ENSP00000413660:p.Cys482Tyr		22639756	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	7.132	0.580032	0.13686	.	.	ENSG00000229676	ENST00000456783	D	0.85861	-2.04	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92293	0.7555	H	0.95365	3.66	0.30403	N	0.77987	D	0.55172	0.97	P	0.59487	0.858	D	0.87208	0.2245	9	0.62326	D	0.03	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	482	Q9P255	ZN492_HUMAN	Y	482	ENSP00000413660:C482Y	ENSP00000413660:C482Y	C	+	2	0	ZNF492	22639756	1.000000	0.71417	0.485000	0.27403	0.495000	0.33615	6.473000	0.73572	0.269000	0.21961	0.274000	0.19336	TGT		0.373	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		A	22847916	G	A	22847916	3	1	36	1	0	0	0	0	1	0	0	0	17943	1377	48	2	1455	2	ZNF492	19	22847916	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	11120405	22847916	36281067	50	1852											
KIAA0355	9710	genome.wustl.edu	37	19	34791869	34791869	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:34791869T>C	ENST00000299505.6	+	2	1364	c.491T>C	c.(490-492)aTt>aCt	p.I164T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	164										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTCCAGGACATTGAGGTAGAG	0.393																																																0			19											61	50	54					19																	34791869		2201	4299	6500	39483709	SO:0001583	missense	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.491T>C	19.37:g.34791869T>C	ENSP00000299505:p.Ile164Thr		39483709	Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420205	0.62622	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.057153	0.64402	D	0.000001	T	0.41419	0.1158	N	0.19112	0.55	0.58432	D	0.999998	P	0.40731	0.728	B	0.39339	0.297	T	0.49082	-0.8976	9	0.87932	D	0	-6.2603	15.4502	0.75268	0.0:0.0:0.0:1.0	.	164	O15063	K0355_HUMAN	T	164	.	ENSP00000299505:I164T	I	+	2	0	KIAA0355	39483709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.107000	0.64212	0.459000	0.35465	ATT		0.393	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		C	34791869	T	C	34791869	3	2	36	1	0	0	0	0	1	0	0	0	8170	1493	52	4	493	4	KIAA0355	19	34791869	Missense_Mutation	SNP	T	TCGA-04-1655-01A-01W-0633-09	11943953	34791869	24337114	51	1853											
RYR1	6261	genome.wustl.edu	37	19	39008210	39008210	+	Silent	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:39008210C>T	ENST00000359596.3	+	66	9897	c.9897C>T	c.(9895-9897)ggC>ggT	p.G3299G	RYR1_ENST00000355481.4_Silent_p.G3299G|RYR1_ENST00000360985.3_Silent_p.G3299G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3299					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCCCGCCGGCGCCCCCCCAC	0.652																																																0			19											32	30	30					19																	39008210		2201	4299	6500	43700050	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9897C>T	19.37:g.39008210C>T			43700050	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39008210	C	T	39008210	2	4	36	1	0	0	0	0	0	0	0	1	13771	755	27	1		1	RYR1	19	39008210	Silent	SNP	C	TCGA-04-1655-01A-01W-0633-09	4216341	39008210	20120773	52	1854											
DSCAM	1826	genome.wustl.edu	37	21	41719664	41719664	+	Silent	SNP	G	G	A	rs372861546		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr21:41719664G>A	ENST00000400454.1	-	6	1620	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	381	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTGGTATGCGCCCCCGTCAC	0.502																																					Melanoma(134;970 1778 1785 21664 32388)											0			21						G		0,4000		0,0,2000	272	249	257		1143	-3.7	0.9	21		257	1,8311		0,1,4155	no	coding-synonymous	DSCAM	NM_001389.3		0,1,6155	AA,AG,GG		0.012,0.0,0.0081		381/2013	41719664	1,12311	2000	4156	6156	40641534	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1143C>T	21.37:g.41719664G>A			40641534	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41719664	G	A	41719664	2	1	36	1	0	0	0	0	0	0	0	1	4768	1074	38	1		1	DSCAM	21	41719664	Silent	SNP	G	TCGA-04-1655-01A-01W-0633-09		41719664	6410231	53	1855											
SIK1	150094	genome.wustl.edu	37	21	44836633	44836633	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr21:44836633G>C	ENST00000270162.6	-	14	2473	c.2341C>G	c.(2341-2343)Ctg>Gtg	p.L781V		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	781					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CACTGCACCAGGACAAACGTG	0.602																																																0			21											38	39	39					21																	44836633		2202	4299	6501	43661061	SO:0001583	missense	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.2341C>G	21.37:g.44836633G>C	ENSP00000270162:p.Leu781Val		43661061	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049745	0.36181	.	.	ENSG00000142178	ENST00000270162	T	0.78003	-1.14	5.07	3.25	0.37280	.	0.078320	0.47852	D	0.000206	T	0.72906	0.3519	L	0.32530	0.975	0.32859	D	0.507702	D	0.58620	0.983	P	0.51016	0.656	T	0.79417	-0.1812	10	0.87932	D	0	.	9.2321	0.37444	0.167:0.0:0.833:0.0	.	781	P57059	SIK1_HUMAN	V	781	ENSP00000270162:L781V	ENSP00000270162:L781V	L	-	1	2	SIK1	43661061	1.000000	0.71417	0.910000	0.35882	0.619000	0.37552	1.695000	0.37763	1.136000	0.42199	0.655000	0.94253	CTG		0.602	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		C	44836633	G	C	44836633	3	2	36	1	0	0	0	0	1	0	0	0	14320	991	35	3	14	3	SIK1	21	44836633	Missense_Mutation	SNP	G	TCGA-04-1655-01A-01W-0633-09	3116969	44836633	3293262	54	1856											
TPO	7173	hgsc.bcm.edu	37	2	1491722	1491722	+	Missense_Mutation	SNP	C	C	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr2:1491722C>A	ENST00000345913.4	+	10	1818	c.1727C>A	c.(1726-1728)gCg>gAg	p.A576E	TPO_ENST00000346956.3_Missense_Mutation_p.A576E|TPO_ENST00000329066.4_Missense_Mutation_p.A576E|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A403E|TPO_ENST00000337415.3_Missense_Mutation_p.A576E|TPO_ENST00000349624.3_Missense_Mutation_p.A403E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	576					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.A576E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTGGATCTGGCGTCCATCAAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											116	103	107					2																	1491722		2203	4300	6503	1470729	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1727C>A	2.37:g.1491722C>A	ENSP00000318820:p.Ala576Glu		1470729	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824933	0.90955	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.79784	0.98;0.991;0.993	D	0.93095	0.6503	10	0.87932	D	0	-23.2278	17.8262	0.88666	0.0:1.0:0.0:0.0	.	576;403;576	P07202-4;P07202-5;P07202	.;.;PERT_HUMAN	E	576;576;576;403;576;403;505	ENSP00000337263:A576E;ENSP00000318820:A576E;ENSP00000263886:A576E;ENSP00000332044:A403E;ENSP00000329869:A576E;ENSP00000371633:A403E;ENSP00000405788:A505E	ENSP00000329869:A576E	A	+	2	0	TPO	1470729	0.998000	0.40836	0.922000	0.36590	0.923000	0.55619	3.799000	0.55529	2.191000	0.70037	0.591000	0.81541	GCG		0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1491722	C	A	1491722	3	1	37	1	0	0	0	0	1	0	0	0	16410	768	27	3	1761	3	TPO	2	1491722	Missense_Mutation	SNP	C	TCGA-09-0364-01A-02W-0370-10		1491722	241707651	1	1857											
COL4A4	1286	hgsc.bcm.edu	37	2	227942765	227942765	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr2:227942765C>T	ENST00000396625.3	-	25	2039	c.1832G>A	c.(1831-1833)gGt>gAt	p.G611D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G611D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	611	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G611D(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAATCCTTTACCACCTGGGGT	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											36	38	37					2																	227942765		1834	4092	5926	227651009	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1832G>A	2.37:g.227942765C>T	ENSP00000379866:p.Gly611Asp		227651009	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	1.396	-0.579354	0.03854	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.97016	-4.21;-4.21	5.82	-9.69	0.00524	.	.	.	.	.	T	0.81833	0.4906	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.75439	-0.3317	9	0.11182	T	0.66	.	10.9292	0.47207	0.0:0.0837:0.2696:0.6466	.	611	P53420	CO4A4_HUMAN	D	611	ENSP00000379866:G611D;ENSP00000328553:G611D	ENSP00000328553:G611D	G	-	2	0	COL4A4	227651009	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	-0.389000	0.07342	-1.492000	0.01838	0.650000	0.86243	GGT		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		T	227942765	C	T	227942765	3	4	37	1	0	0	0	0	1	0	0	0	3693	507	18	2	3336	2	COL4A4	2	227942765	Missense_Mutation	SNP	C	TCGA-09-0364-01A-02W-0370-10	226451043	227942765	15256608	2	1858											
GBE1	2632	hgsc.bcm.edu	37	3	81640303	81640303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr3:81640303G>C	ENST00000429644.2	-	9	1764	c.1121C>G	c.(1120-1122)tCa>tGa	p.S374*	GBE1_ENST00000489715.1_Nonsense_Mutation_p.S333*	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	374					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S374L(2)|p.S374*(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GTAATCACCTGAGAAACCTTG	0.358									Glycogen Storage Disease, type IV																																							3	Substitution - Missense(2)|Substitution - Nonsense(1)	lung(2)|ovary(1)	3											101	88	92					3																	81640303		1858	4102	5960	81722993	SO:0001587	stop_gained	2632	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1121C>G	3.37:g.81640303G>C	ENSP00000410833:p.Ser374*		81722993	B3KWV3|Q96EN0	Nonsense_Mutation	SNP	ENST00000429644.2	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	37	6.074705	0.97262	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	.	.	.	5.41	4.53	0.55603	.	0.121727	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.4201	11.3092	0.49353	0.0:0.1787:0.6949:0.1263	.	.	.	.	X	374;425;333;137	.	ENSP00000264326:S425X	S	-	2	0	GBE1	81722993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.017000	0.76399	1.390000	0.46547	0.650000	0.86243	TCA		0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			C	81640303	G	C	81640303	4	2	37	1	0	0	0	0	0	1	0	0	6270	1294	45	3	1019	3	GBE1	3	81640303	Nonsense_Mutation	SNP	G	TCGA-09-0364-01A-02W-0370-10		81640303	116382127	3	1859											
NEIL3	55247	hgsc.bcm.edu	37	4	178283454	178283454	+	Missense_Mutation	SNP	G	G	T			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr4:178283454G>T	ENST00000264596.3	+	10	1765	c.1647G>T	c.(1645-1647)ttG>ttT	p.L549F		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	549					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.L549F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GGGCAGATTTGTCCTTCCCAT	0.393								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	ovary(1)	4											87	88	88					4																	178283454		2203	4300	6503	178520448	SO:0001583	missense	55247			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1647G>T	4.37:g.178283454G>T	ENSP00000264596:p.Leu549Phe		178520448	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428492	0.62844	.	.	ENSG00000109674	ENST00000264596	T	0.04119	3.7	5.16	1.2	0.21068	.	0.089995	0.44483	D	0.000457	T	0.15132	0.0365	M	0.77103	2.36	0.50467	D	0.999877	D	0.76494	0.999	D	0.75020	0.985	T	0.01001	-1.1485	10	0.62326	D	0.03	-11.9413	4.8701	0.13627	0.1408:0.1211:0.6135:0.1247	.	549	Q8TAT5	NEIL3_HUMAN	F	549	ENSP00000264596:L549F	ENSP00000264596:L549F	L	+	3	2	NEIL3	178520448	1.000000	0.71417	0.996000	0.52242	0.763000	0.43281	1.458000	0.35223	0.675000	0.31264	0.491000	0.48974	TTG		0.393	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		T	178283454	G	T	178283454	3	4	37	1	0	0	0	0	1	0	0	0	10320	1368	48	3	1685	3	NEIL3	4	178283454	Missense_Mutation	SNP	G	TCGA-09-0364-01A-02W-0370-10		178283454	12870822	4	1860											
TPK1	27010	hgsc.bcm.edu	37	7	144320302	144320302	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr7:144320302C>T	ENST00000360057.3	-	6	413	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.C99Y|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Missense_Mutation_p.C104Y	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	104					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.C104Y(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CATTTTAAGGCACTTAGTAAA	0.318																																					Ovarian(45;88 1034 2073 5829 28455)											1	Substitution - Missense(1)	ovary(1)	7											200	216	211					7																	144320302		2203	4300	6503	143951235	SO:0001583	missense	27010			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"placental protein 20", "thiamine pyrophosphokinase 1", "thiamine kinase", "thiamine diphosphokinase"	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.311G>A	7.37:g.144320302C>T	ENSP00000353165:p.Cys104Tyr		143951235	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045929	0.75846	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	6.02	6.02	0.97574	Thiamin pyrophosphokinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.93609	0.7959	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	D	0.94654	0.7842	10	0.87932	D	0	-15.1097	16.0408	0.80680	0.0:1.0:0.0:0.0	.	104;104;99	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	Y	104;99;104;104	ENSP00000353165:C104Y;ENSP00000438813:C99Y;ENSP00000367339:C104Y;ENSP00000448655:C104Y	ENSP00000353165:C104Y	C	-	2	0	TPK1	143951235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.677000	0.61634	2.865000	0.98341	0.655000	0.94253	TGC		0.318	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		T	144320302	C	T	144320302	3	4	37	1	0	0	0	0	1	0	0	0	16404	710	25	2	436	2	TPK1	7	144320302	Missense_Mutation	SNP	C	TCGA-09-0364-01A-02W-0370-10		144320302	14818361	5	1861											
CNTNAP2	26047	hgsc.bcm.edu	37	7	146818215	146818215	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr7:146818215G>A	ENST00000361727.3	+	6	1415	c.899G>A	c.(898-900)cGt>cAt	p.R300H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	300	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R300L(1)|p.R300H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCACTTCCGTACCAATGGA	0.483										HNSCC(39;0.1)																																						2	Substitution - Missense(2)	ovary(1)|lung(1)	7											181	142	155					7																	146818215		2203	4300	6503	146449148	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.899G>A	7.37:g.146818215G>A	ENSP00000354778:p.Arg300His		146449148	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721253	0.68959	.	.	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000010	T	0.74854	0.3771	L	0.41824	1.3	0.80722	D	1	D	0.53312	0.959	P	0.52514	0.701	T	0.68861	-0.5297	10	0.10902	T	0.67	.	12.0642	0.53578	0.0788:0.0:0.9212:0.0	.	300	Q9UHC6	CNTP2_HUMAN	H	300	ENSP00000354778:R300H	ENSP00000354778:R300H	R	+	2	0	CNTNAP2	146449148	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.913000	0.87471	2.756000	0.94617	0.563000	0.77884	CGT		0.483	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	146818215	G	A	146818215	3	1	37	1	0	0	0	0	1	0	0	0	3647	1145	40	1	921	1	CNTNAP2	7	146818215	Missense_Mutation	SNP	G	TCGA-09-0364-01A-02W-0370-10	2497913	146818215	12320448	6	1862											
TP53	7157	hgsc.bcm.edu	37	17	7577585	7577596	+	In_Frame_Del	DEL	GATGGTGGTACA	GATGGTGGTACA	-	rs587781589		TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	GATGGTGGTACA	GATGGTGGTACA	GATGGTGGTACA	-	GATGGTGGTACA	GATGGTGGTACA	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr17:7577585_7577596delGATGGTGGTACA	ENST00000269305.4	-	7	874_885	c.685_696delTGTACCACCATC	c.(685-696)tgtaccaccatcdel	p.CTTI229del	TP53_ENST00000359597.4_In_Frame_Del_p.CTTI229del|TP53_ENST00000413465.2_In_Frame_Del_p.CTTI229del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_In_Frame_Del_p.CTTI229del|TP53_ENST00000420246.2_In_Frame_Del_p.CTTI229del|TP53_ENST00000445888.2_In_Frame_Del_p.CTTI229del	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	229	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C229fs*10(14)|p.I232F(10)|p.T230I(9)|p.I232T(8)|p.0?(8)|p.T231T(7)|p.I232N(6)|p.I232V(5)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.T231S(3)|p.I232_H233insG(3)|p.C229F(3)|p.T230fs*6(2)|p.T231I(2)|p.T231A(2)|p.I232S(2)|p.C229_H233delCTTIH(2)|p.T231fs*16(2)|p.T230S(2)|p.C229R(2)|p.C229S(2)|p.C229Y(2)|p.T230N(2)|p.T230P(2)|p.T230fs*17(2)|p.T230fs*9(1)|p.Y234fs*2(1)|p.V225fs*23(1)|p.C136fs*10(1)|p.T231del(1)|p.I232I(1)|p.I232L(1)|p.T138T(1)|p.C229_T230insX(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.S227_I232delSDCTTI(1)|p.C136fs*1(1)|p.C136F(1)|p.I232_Y236delIHYNY(1)|p.I139F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*7(1)|p.C229_I232del(1)|p.I139T(1)|p.I232fs*15(1)|p.T230A(1)|p.T230T(1)|p.C229C(1)|p.I232fs*8(1)|p.C229G(1)|p.T231N(1)|p.I232fs*5(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)	AGTTGTAGTGGATGGTGGTACAGTCAGAGCCA	0.528		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"	142	Substitution - Missense(69)|Deletion - Frameshift(27)|Substitution - coding silent(11)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Insertion - In frame(5)|Unknown(5)|Substitution - Nonsense(3)|Complex - frameshift(1)	biliary_tract(17)|breast(16)|lung(15)|large_intestine(12)|upper_aerodigestive_tract(11)|oesophagus(10)|ovary(10)|haematopoietic_and_lymphoid_tissue(9)|urinary_tract(6)|central_nervous_system(5)|endometrium(5)|stomach(4)|skin(4)|NS(4)|bone(4)|liver(3)|pancreas(2)|thymus(2)|thyroid(1)|soft_tissue(1)|prostate(1)	17	GRCh37	CD076915	TP53	D																																				7518321	SO:0001651	inframe_deletion	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.685_696delTGTACCACCATC	17.37:g.7577585_7577596delGATGGTGGTACA	ENSP00000269305:p.Cys229_Ile232del		7518310	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	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.528	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577596	GATGGTGGTACA	-	7577585	7	5	37	1	0	1	0	1	0	0	0	0	16381	1164	41	0	594	0	TP53	17	7577585	In_Frame_Del	DEL	GATGGTGGTACA	TCGA-09-0364-01A-02W-0370-10		7577585	73617625	7	1863											
DCC	1630	hgsc.bcm.edu	37	18	50734110	50734110	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr18:50734110G>A	ENST00000442544.2	+	11	2400	c.1784G>A	c.(1783-1785)aGt>aAt	p.S595N	DCC_ENST00000581580.1_Missense_Mutation_p.S250N|DCC_ENST00000412726.1_Missense_Mutation_p.S443N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	595	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.S595N(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCGAATATAGTCTTCGATTC	0.378																																																1	Substitution - Missense(1)	ovary(1)	18											149	155	153					18																	50734110		2203	4300	6503	48988108	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1784G>A	18.37:g.50734110G>A	ENSP00000389140:p.Ser595Asn		48988108		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435058	0.25813	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56941	0.43;0.43	5.83	-2.49	0.06403	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.547984	0.18259	N	0.146690	T	0.50188	0.1601	M	0.70275	2.135	0.20873	N	0.999837	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.25291	0.015;0.015;0.059	T	0.46884	-0.9159	10	0.38643	T	0.18	.	14.2077	0.65744	0.2179:0.1967:0.5854:0.0	.	443;443;595	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	N	595;528;443	ENSP00000389140:S595N;ENSP00000397322:S443N	ENSP00000304146:S528N	S	+	2	0	DCC	48988108	0.263000	0.24083	0.859000	0.33776	0.905000	0.53344	-0.527000	0.06200	-0.913000	0.03832	-0.312000	0.09012	AGT		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		A	50734110	G	A	50734110	3	1	37	1	0	0	0	0	1	0	0	0	4282	1029	36	2	1826	2	DCC	18	50734110	Missense_Mutation	SNP	G	TCGA-09-0364-01A-02W-0370-10		50734110	27343138	8	1864											
CNOT3	4849	hgsc.bcm.edu	37	19	54659132	54659132	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr19:54659132G>A	ENST00000406403.1	+	17	3852	c.2249G>A	c.(2248-2250)cGg>cAg	p.R750Q	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R750Q			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	750	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R750Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGAGGACCGGGACCTCCAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											67	56	60					19																	54659132		2203	4300	6503	59350944	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2249G>A	19.37:g.54659132G>A	ENSP00000383954:p.Arg750Gln		59350944	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763328	0.89932	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T	0.52057	0.68;0.68	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000003	T	0.47154	0.1430	N	0.04508	-0.205	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.61525	-0.7045	10	0.66056	D	0.02	-26.404	16.726	0.85422	0.0:0.0:1.0:0.0	.	750	O75175	CNOT3_HUMAN	Q	750;750;85	ENSP00000221232:R750Q;ENSP00000383954:R750Q	ENSP00000221232:R750Q	R	+	2	0	CNOT3	59350944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.107000	0.94261	2.550000	0.86006	0.561000	0.74099	CGG		0.642	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		A	54659132	G	A	54659132	3	1	37	1	0	0	0	0	1	0	0	0	3620	1116	39	1	2315	1	CNOT3	19	54659132	Missense_Mutation	SNP	G	TCGA-09-0364-01A-02W-0370-10		54659132	4469851	9	1865											
VN1R1	57191	hgsc.bcm.edu	37	19	57967607	57967607	+	Missense_Mutation	SNP	G	G	C	rs372495902		TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr19:57967607G>C	ENST00000321039.3	-	1	247	c.248C>G	c.(247-249)aCg>aGg	p.T83R	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	83					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.T83R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AATCAAGTCCGTGGGTCTCAG	0.423																																																1	Substitution - Missense(1)	ovary(1)	19											46	42	43					19																	57967607		2203	4300	6503	62659419	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.248C>G	19.37:g.57967607G>C	ENSP00000322339:p.Thr83Arg		62659419	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184258	0.38609	.	.	ENSG00000178201	ENST00000321039	T	0.41065	1.01	4.18	-8.35	0.00984	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39489	0.1080	L	0.45581	1.43	0.09310	N	1	D	0.57257	0.979	P	0.57371	0.819	T	0.39921	-0.9590	9	0.56958	D	0.05	.	2.3866	0.04367	0.3529:0.0944:0.374:0.1787	.	83	Q9GZP7	VN1R1_HUMAN	R	83	ENSP00000322339:T83R	ENSP00000322339:T83R	T	-	2	0	VN1R1	62659419	0.137000	0.22531	0.000000	0.03702	0.002000	0.02628	0.063000	0.14410	-1.988000	0.00980	-1.269000	0.01422	ACG		0.423	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		C	57967607	G	C	57967607	3	2	37	1	0	0	0	0	1	0	0	0	17178	1145	40	3	817	3	VN1R1	19	57967607	Missense_Mutation	SNP	G	TCGA-09-0364-01A-02W-0370-10	3308475	57967607	1161376	10	1866											
CHD6	84181	hgsc.bcm.edu	37	20	40033919	40033919	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr20:40033919G>A	ENST00000373233.3	-	37	7639	c.7462C>T	c.(7462-7464)Cca>Tca	p.P2488S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2488					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.P2488S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGATGCCTGGCATATTTCTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	20											70	67	68					20																	40033919		2203	4300	6503	39467333	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7462C>T	20.37:g.40033919G>A	ENSP00000362330:p.Pro2488Ser		39467333	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961563	0.53400	.	.	ENSG00000124177	ENST00000373233	D	0.85955	-2.05	5.55	5.55	0.83447	.	0.105036	0.42682	D	0.000666	T	0.79896	0.4525	L	0.40543	1.245	0.80722	D	1	P	0.39665	0.682	B	0.30401	0.115	T	0.81965	-0.0691	10	0.62326	D	0.03	-11.6425	19.7069	0.96076	0.0:0.0:1.0:0.0	.	2488	Q8TD26	CHD6_HUMAN	S	2488	ENSP00000362330:P2488S	ENSP00000362330:P2488S	P	-	1	0	CHD6	39467333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.651000	0.98493	2.894000	0.99253	0.591000	0.81541	CCA		0.542	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			A	40033919	G	A	40033919	3	1	37	1	0	0	0	0	1	0	0	0	3329	1203	42	2	689	2	CHD6	20	40033919	Missense_Mutation	SNP	G	TCGA-09-0364-01A-02W-0370-10		40033919	22991601	11	1867											
SLPI	6590	hgsc.bcm.edu	37	20	43883157	43883157	+	Missense_Mutation	SNP	G	G	C			TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr20:43883157G>C	ENST00000338380.2	-	1	48	c.28C>G	c.(28-30)Ctg>Gtg	p.L10V		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	10					negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L10V(1)		lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				AGCAGCACCAGGAAGGGGAAG	0.557																																					GBM(64;162 1089 31780 33427 34538)											1	Substitution - Missense(1)	ovary(1)	20											82	67	72					20																	43883157		2203	4300	6503	43316571	SO:0001583	missense	6590			X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"WAP four-disulfide core domain containing"	11092	protein-coding gene	gene with protein product	"antileukoproteinase"	107285	"secretory leukocyte protease inhibitor (antileukoproteinase)"			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.28C>G	20.37:g.43883157G>C	ENSP00000342082:p.Leu10Val		43316571	B2R5H8|P07757	Missense_Mutation	SNP	ENST00000338380.2	37	CCDS13347.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.065842	0.00036	.	.	ENSG00000124107	ENST00000338380	T	0.17691	2.26	3.9	-3.71	0.04424	.	2.458010	0.02323	N	0.073135	T	0.05731	0.0150	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	10	0.14252	T	0.57	.	5.272	0.15630	0.0:0.3064:0.1597:0.5339	.	10	P03973	SLPI_HUMAN	V	10	ENSP00000342082:L10V	ENSP00000342082:L10V	L	-	1	2	SLPI	43316571	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.916000	0.04029	-1.033000	0.03299	-1.254000	0.01491	CTG		0.557	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			C	43883157	G	C	43883157	3	2	37	1	0	0	0	0	1	0	0	0	14756	991	35	3	386	3	SLPI	20	43883157	Missense_Mutation	SNP	G	TCGA-09-0364-01A-02W-0370-10	3849238	43883157	19142363	12	1868											
RFPL3	10738	hgsc.bcm.edu	37	22	32756703	32756703	+	Missense_Mutation	SNP	C	C	T	rs73166367		TCGA-09-0364-01A-02W-0370-10	TCGA-09-0364-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a2f211dd-6af1-4fa7-ab0c-9bcdbcfe82b7	0bf88efe-688e-4da8-b2f1-b6c21008e915	g.chr22:32756703C>T	ENST00000249007.4	+	2	1043	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.R251C|RFPL3S_ENST00000461833.1_5'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.R251C	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	280	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.R251C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGAGCCACTGCGCCCATTTTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	22											127	105	113					22																	32756703		2203	4300	6503	31086703	SO:0001583	missense	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.838C>T	22.37:g.32756703C>T	ENSP00000249007:p.Arg280Cys		31086703	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306312	0.23736	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.69435	-0.4;-0.4;-0.4	0.475	0.475	0.16774	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.73984	0.3657	M	0.74647	2.275	0.30658	N	0.754678	D	0.57899	0.981	P	0.59424	0.857	T	0.69687	-0.5078	9	0.54805	T	0.06	.	6.6676	0.23050	0.0:0.9999:0.0:1.0E-4	.	280	O75679	RFPL3_HUMAN	C	251;280;251	ENSP00000380609:R251C;ENSP00000249007:R280C;ENSP00000371520:R251C	ENSP00000249007:R280C	R	+	1	0	RFPL3	31086703	0.000000	0.05858	0.162000	0.22713	0.081000	0.17604	0.183000	0.16919	0.473000	0.27368	0.205000	0.17691	CGC		0.478	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		T	32756703	C	T	32756703	3	4	37	1	0	0	0	0	1	0	0	0	13258	768	27	1	844	1	RFPL3	22	32756703	Missense_Mutation	SNP	C	TCGA-09-0364-01A-02W-0370-10		32756703	18547863	13	1869											
ENO1	2023	genome.wustl.edu	37	1	8924018	8924018	+	Silent	SNP	G	G	A	rs146867004		TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr1:8924018G>A	ENST00000234590.4	-	9	1118	c.999C>T	c.(997-999)aaC>aaT	p.N333N		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	333					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.N333N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGACTTCTCGTTCACGGCCT	0.567																																					Esophageal Squamous(21;302 608 19946 22210 33560)											1	Substitution - coding silent(1)	ovary(1)	1						G	,	0,4406		0,0,2203	281	254	263		720,999	-11	0	1	dbSNP_134	263	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ENO1	NM_001201483.1,NM_001428.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	240/342,333/435	8924018	1,13005	2203	4300	6503	8846605	SO:0001819	synonymous_variant	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.999C>T	1.37:g.8924018G>A			8846605	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	ENST00000234590.4	37	CCDS97.1																																																																																				0.567	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		A	8924018	G	A	8924018	2	1	38	1	0	0	0	0	0	0	0	1	5121	1136	40	1		1	ENO1	1	8924018	Silent	SNP	G	TCGA-09-0366-01A-01W-0372-09		8924018	240326603	1	1870											
PRAMEF4	400735	genome.wustl.edu	37	1	12942207	12942207	+	Missense_Mutation	SNP	A	A	G			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr1:12942207A>G	ENST00000235349.5	-	3	413	c.343T>C	c.(343-345)Tgg>Cgg	p.W115R		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	115					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.W115R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAAACCATCCAGAAGTTCTCA	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											19	25	23					1																	12942207		1277	2427	3704	12864794	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.343T>C	1.37:g.12942207A>G	ENSP00000235349:p.Trp115Arg		12864794	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	a	11.91	1.781073	0.31502	.	.	ENSG00000243073	ENST00000235349	T	0.04862	3.54	1.48	1.48	0.22813	.	0.155196	0.45606	D	0.000357	T	0.21550	0.0519	M	0.87900	2.915	0.22728	N	0.998806	D	0.76494	0.999	D	0.72075	0.976	T	0.01858	-1.1259	10	0.66056	D	0.02	.	5.1316	0.14913	1.0:0.0:0.0:0.0	.	115	O60810	PRAM4_HUMAN	R	115	ENSP00000235349:W115R	ENSP00000235349:W115R	W	-	1	0	PRAMEF4	12864794	0.184000	0.23200	0.520000	0.27837	0.065000	0.16274	0.382000	0.20635	0.939000	0.37446	0.329000	0.21502	TGG		0.478	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		G	12942207	A	G	12942207	3	3	38	1	0	0	0	0	1	0	0	0	12440	188	7	4	1101	4	PRAMEF4	1	12942207	Missense_Mutation	SNP	A	TCGA-09-0366-01A-01W-0372-09	4018189	12942207	236308414	2	1871											
KIAA0467	23334	genome.wustl.edu	37	1	43891607	43891607	+	Silent	SNP	G	G	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr1:43891607G>A	ENST00000562955.1	+	20	2916	c.2916G>A	c.(2914-2916)ccG>ccA	p.P972P	SZT2_ENST00000372442.1_Silent_p.P130P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	972					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.P130P(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCCAGAGCCGAGGGTCTCTG	0.602																																																2	Substitution - coding silent(2)	ovary(2)	1											64	65	64					1																	43891607		2203	4300	6503	43664194	SO:0001819	synonymous_variant	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2916G>A	1.37:g.43891607G>A			43664194	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																				0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		A	43891607	G	A	43891607	2	1	38	1	0	0	0	0	0	0	0	1	8178	1045	37	1		1	KIAA0467	1	43891607	Silent	SNP	G	TCGA-09-0366-01A-01W-0372-09	30949400	43891607	205359014	3	1872											
ZFYVE9	9372	genome.wustl.edu	37	1	52811830	52811830	+	Missense_Mutation	SNP	C	C	G			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr1:52811830C>G	ENST00000371591.1	+	18	4346	c.4215C>G	c.(4213-4215)tgC>tgG	p.C1405W	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.C1405W|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.C1346W	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1405					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.C1405W(1)|p.C1405C(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAGGGGCCTGCCAGCTTAGTG	0.493																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|endometrium(1)	1											84	83	83					1																	52811830		2203	4300	6503	52584418	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.4215C>G	1.37:g.52811830C>G	ENSP00000360647:p.Cys1405Trp		52584418	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085453	0.55861	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.39787	1.13;1.06;1.06	4.78	2.87	0.33458	.	0.047227	0.85682	D	0.000000	T	0.53077	0.1774	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.78314	0.991;0.981	T	0.54583	-0.8272	10	0.72032	D	0.01	.	9.8336	0.40956	0.0:0.7603:0.0:0.2397	.	1346;1405	O95405-2;O95405	.;ZFYV9_HUMAN	W	1346;1405;1405	ENSP00000349737:C1346W;ENSP00000287727:C1405W;ENSP00000360647:C1405W	ENSP00000287727:C1405W	C	+	3	2	ZFYVE9	52584418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.865000	0.39479	1.235000	0.43724	0.655000	0.94253	TGC		0.493	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		G	52811830	C	G	52811830	3	3	38	1	0	0	0	0	1	0	0	0	17671	747	26	3	4292	3	ZFYVE9	1	52811830	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09	8920223	52811830	196438791	4	1873											
APH1A	51107	genome.wustl.edu	37	1	150240405	150240405	+	Missense_Mutation	SNP	G	G	C			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr1:150240405G>C	ENST00000369109.3	-	2	424	c.236C>G	c.(235-237)tCt>tGt	p.S79C	APH1A_ENST00000461320.1_Intron|APH1A_ENST00000360244.4_Missense_Mutation_p.S79C|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Intron	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	79					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.S79C(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGAAGGACAGAGACAGCAGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											92	99	96					1																	150240405		1980	4156	6136	148507029	SO:0001583	missense	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"anterior pharynx defective 1 homolog A (C. elegans)"			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.236C>G	1.37:g.150240405G>C	ENSP00000358105:p.Ser79Cys		148507029	B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315611	0.81469	.	.	ENSG00000117362	ENST00000369109;ENST00000360244	T;T	0.56275	0.47;0.47	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.995;0.998	T	0.64905	-0.6297	10	0.49607	T	0.09	-7.0833	15.8372	0.78808	0.0:0.0:1.0:0.0	.	79;79;79	Q96BI3-2;Q5TB22;Q96BI3	.;.;APH1A_HUMAN	C	79	ENSP00000358105:S79C;ENSP00000353380:S79C	ENSP00000353380:S79C	S	-	2	0	APH1A	148507029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.540000	0.98080	2.586000	0.87340	0.591000	0.81541	TCT		0.557	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		C	150240405	G	C	150240405	3	2	38	1	0	0	0	0	1	0	0	0	771	942	33	3	596	3	APH1A	1	150240405	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09	97428575	150240405	99010216	5	1874											
PIKFYVE	200576	genome.wustl.edu	37	2	209138357	209138357	+	Missense_Mutation	SNP	G	G	C			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr2:209138357G>C	ENST00000264380.4	+	3	380	c.222G>C	c.(220-222)tgG>tgC	p.W74C	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.W74C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.W74C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.W74C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	74					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.W74C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTGGAAGTTGGACCAGCCCTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											97	94	95					2																	209138357		2203	4300	6503	208846602	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.222G>C	2.37:g.209138357G>C	ENSP00000264380:p.Trp74Cys		208846602	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075341	0.55646	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.64260	1.64;-0.09;-0.08;1.8	5.65	4.72	0.59763	.	0.157358	0.45126	D	0.000395	T	0.65678	0.2714	N	0.19112	0.55	0.38953	D	0.958389	D;D;P;P;P	0.76494	0.999;0.975;0.924;0.876;0.924	D;P;P;B;P	0.76071	0.987;0.62;0.521;0.221;0.521	T	0.68872	-0.5294	10	0.52906	T	0.07	-8.9267	14.0965	0.65027	0.0:0.0:0.8501:0.1499	.	74;74;74;74;74	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	C	74	ENSP00000264380:W74C;ENSP00000384356:W74C;ENSP00000414477:W74C;ENSP00000405736:W74C	ENSP00000264380:W74C	W	+	3	0	PIKFYVE	208846602	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.669000	0.61575	2.824000	0.97209	0.655000	0.94253	TGG		0.507	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		C	209138357	G	C	209138357	3	2	38	1	0	0	0	0	1	0	0	0	11924	1183	41	3	228	3	PIKFYVE	2	209138357	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09		209138357	34061016	6	1875											
PLXNB1	5364	genome.wustl.edu	37	3	48454545	48454545	+	Missense_Mutation	SNP	C	C	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr3:48454545C>A	ENST00000358536.4	-	24	4838	c.4569G>T	c.(4567-4569)aaG>aaT	p.K1523N	PLXNB1_ENST00000448774.2_Missense_Mutation_p.K134N|PLXNB1_ENST00000456774.1_Missense_Mutation_p.K1340N|PLXNB1_ENST00000296440.6_Missense_Mutation_p.K1523N|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.K1340N	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1523					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.K1523N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGAACCTTCTTATAGTCCC	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											149	141	144					3																	48454545		2203	4300	6503	48429549	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4569G>T	3.37:g.48454545C>A	ENSP00000351338:p.Lys1523Asn		48429549	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360214	0.82353	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.14391	3.65;3.69;3.65;2.51;3.69	5.33	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.50866	-0.8777	10	0.59425	D	0.04	.	13.4555	0.61195	0.0:0.9231:0.0:0.0769	.	1523;1340	O43157;O43157-2	PLXB1_HUMAN;.	N	1523;1340;1523;134;1340	ENSP00000296440:K1523N;ENSP00000351242:K1340N;ENSP00000351338:K1523N;ENSP00000389320:K134N;ENSP00000414199:K1340N	ENSP00000296440:K1523N	K	-	3	2	PLXNB1	48429549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.021000	0.57196	1.209000	0.43321	0.563000	0.77884	AAG		0.597	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		A	48454545	C	A	48454545	3	1	38	1	0	0	0	0	1	0	0	0	12123	912	32	3	1898	3	PLXNB1	3	48454545	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09		48454545	149567885	7	1876											
COL7A1	1294	genome.wustl.edu	37	3	48623284	48623284	+	Missense_Mutation	SNP	C	C	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr3:48623284C>A	ENST00000328333.8	-	29	3872	c.3765G>T	c.(3763-3765)caG>caT	p.Q1255H	COL7A1_ENST00000454817.1_Missense_Mutation_p.Q1255H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1255	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q1255H(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTTCCCCCTTCTGGCCCTGGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											147	156	153					3																	48623284		2203	4300	6503	48598288	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3765G>T	3.37:g.48623284C>A	ENSP00000332371:p.Gln1255His		48598288	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766772	0.31320	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93547	-3.24;-3.24	5.81	4.93	0.64822	.	0.347799	0.20708	N	0.087160	D	0.90397	0.6994	N	0.25245	0.725	0.36668	D	0.878323	P	0.47484	0.896	P	0.48524	0.58	D	0.91894	0.5526	10	0.48119	T	0.1	.	13.0501	0.58950	0.0:0.9258:0.0:0.0742	.	1255	Q02388	CO7A1_HUMAN	H	1255	ENSP00000332371:Q1255H;ENSP00000412569:Q1255H	ENSP00000332371:Q1255H	Q	-	3	2	COL7A1	48598288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.111000	0.50360	1.453000	0.47775	0.563000	0.77884	CAG		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		A	48623284	C	A	48623284	3	1	38	1	0	0	0	0	1	0	0	0	3704	912	32	3	5429	3	COL7A1	3	48623284	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09	168739	48623284	149399146	8	1877											
COL7A1	1294	genome.wustl.edu	37	3	48629185	48629185	+	Silent	SNP	C	C	T	rs138330564		TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr3:48629185C>T	ENST00000328333.8	-	11	1535	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P	COL7A1_ENST00000454817.1_Silent_p.P476P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	476	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P476P(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTCAGTGCCCGGCTGCAGCC	0.632													C|||	1	0.000199681	0	0.0014	5008	,	,		19701	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	3						C		1,4405	2.1+/-5.4	0,1,2202	58	60	59		1428	-6.1	0.9	3	dbSNP_134	59	0,8598		0,0,4299	no	coding-synonymous	COL7A1	NM_000094.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		476/2945	48629185	1,13003	2203	4299	6502	48604189	SO:0001819	synonymous_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1428G>A	3.37:g.48629185C>T			48604189	Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																				0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		T	48629185	C	T	48629185	2	4	38	1	0	0	0	0	0	0	0	1	3704	639	23	1		1	COL7A1	3	48629185	Silent	SNP	C	TCGA-09-0366-01A-01W-0372-09	5901	48629185	149393245	9	1878											
GPR149	344758	genome.wustl.edu	37	3	154055525	154055525	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr3:154055525G>A	ENST00000389740.2	-	4	2258	c.2159C>T	c.(2158-2160)gCt>gTt	p.A720V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	720					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A720V(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCTGTAAGCTTTATTTAA	0.433																																																1	Substitution - Missense(1)	ovary(1)	3											315	291	299					3																	154055525		1914	4119	6033	155538219	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2159C>T	3.37:g.154055525G>A	ENSP00000374390:p.Ala720Val		155538219		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468079	0.84533	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	N	0.24115	0.695	0.58432	D	0.999994	D	0.56521	0.976	P	0.50192	0.634	T	0.55412	-0.8145	9	0.87932	D	0	-11.7316	14.7238	0.69329	0.0692:0.0:0.9308:0.0	.	720	Q86SP6	GP149_HUMAN	V	720	.	ENSP00000374390:A720V	A	-	2	0	GPR149	155538219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.433000	0.66520	1.456000	0.47831	0.650000	0.86243	GCT		0.433	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		A	154055525	G	A	154055525	3	1	38	1	0	0	0	0	1	0	0	0	6654	971	34	2	40	2	GPR149	3	154055525	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09	105426340	154055525	43966905	10	1879											
SLC2A9	56606	genome.wustl.edu	37	4	9987354	9987354	+	Silent	SNP	C	C	T	rs559926779		TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr4:9987354C>T	ENST00000264784.3	-	4	527	c.474G>A	c.(472-474)tcG>tcA	p.S158S	SLC2A9_ENST00000309065.3_Silent_p.S129S|SLC2A9_ENST00000506583.1_Silent_p.S129S	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	158					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.S129S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CTGCCTGGAGCGAGCAGGCCA	0.488													C|||	1	0.000199681	0	0.0014	5008	,	,		24229	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	4											90	87	88					4																	9987354		2203	4300	6503	9596452	SO:0001819	synonymous_variant	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.474G>A	4.37:g.9987354C>T			9596452	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	CCDS3407.1																																																																																				0.488	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			T	9987354	C	T	9987354	2	4	38	1	0	0	0	0	0	0	0	1	14555	755	27	1		1	SLC2A9	4	9987354	Silent	SNP	C	TCGA-09-0366-01A-01W-0372-09		9987354	181166922	11	1880											
SIM1	6492	genome.wustl.edu	37	6	100896081	100896081	+	Missense_Mutation	SNP	G	G	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr6:100896081G>T	ENST00000369208.3	-	8	1573	c.791C>A	c.(790-792)aCt>aAt	p.T264N	SIM1_ENST00000262901.4_Missense_Mutation_p.T264N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	264	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T264N(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTGGTACAGAGTCTTCTCAAT	0.637																																																1	Substitution - Missense(1)	ovary(1)	6											132	95	107					6																	100896081		2203	4300	6503	101002802	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.791C>A	6.37:g.100896081G>T	ENSP00000358210:p.Thr264Asn		101002802	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640731	0.67244	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.16324	2.35;2.35	5.16	5.16	0.70880	PAS fold-3 (1);PAS (2);	0.045348	0.85682	D	0.000000	T	0.31670	0.0804	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.03739	-1.1008	10	0.56958	D	0.05	.	18.669	0.91504	0.0:0.0:1.0:0.0	.	264	P81133	SIM1_HUMAN	N	264	ENSP00000358210:T264N;ENSP00000262901:T264N	ENSP00000262901:T264N	T	-	2	0	SIM1	101002802	1.000000	0.71417	0.943000	0.38184	0.084000	0.17831	9.476000	0.97823	2.404000	0.81709	0.561000	0.74099	ACT		0.637	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100896081	G	T	100896081	3	4	38	1	0	0	0	0	1	0	0	0	14326	1029	36	3	1529	3	SIM1	6	100896081	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09		100896081	70218986	12	1881											
UTRN	7402	genome.wustl.edu	37	6	144806600	144806600	+	Missense_Mutation	SNP	T	T	G			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr6:144806600T>G	ENST00000367545.3	+	27	3767	c.3767T>G	c.(3766-3768)aTg>aGg	p.M1256R		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1256					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.M1256R(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAGAGCGGATGAAGAGCACA	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											212	204	207					6																	144806600		2203	4300	6503	144848293	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3767T>G	6.37:g.144806600T>G	ENSP00000356515:p.Met1256Arg		144848293	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.651687	0.47362	.	.	ENSG00000152818	ENST00000367545	T	0.35236	1.32	5.12	3.97	0.46021	.	0.249624	0.28198	N	0.016237	T	0.09335	0.0230	N	0.08118	0	0.80722	D	1	B	0.25609	0.13	B	0.24541	0.054	T	0.07462	-1.0771	10	0.87932	D	0	.	10.6037	0.45381	0.0:0.0755:0.0:0.9245	.	1256	P46939	UTRO_HUMAN	R	1256	ENSP00000356515:M1256R	ENSP00000356515:M1256R	M	+	2	0	UTRN	144848293	0.997000	0.39634	0.030000	0.17652	0.987000	0.75469	6.210000	0.72176	0.913000	0.36797	0.533000	0.62120	ATG		0.463	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	144806600	T	G	144806600	3	3	38	1	0	0	0	0	1	0	0	0	17103	1464	51	5	3873	5	UTRN	6	144806600	Missense_Mutation	SNP	T	TCGA-09-0366-01A-01W-0372-09	43910519	144806600	26308467	13	1882											
THSD7A	221981	genome.wustl.edu	37	7	11675821	11675821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr7:11675821G>A	ENST00000423059.4	-	2	1209	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	320					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q320*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TATCCAATCTGGATGTCCCAA	0.413										HNSCC(18;0.044)																																						1	Substitution - Nonsense(1)	ovary(1)	7											160	157	158					7																	11675821		1890	4112	6002	11642346	SO:0001587	stop_gained	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.958C>T	7.37:g.11675821G>A	ENSP00000406482:p.Gln320*		11642346		Nonsense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	38	7.259692	0.98171	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.62	5.62	0.85841	.	0.050105	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	.	.	.	X	320	.	ENSP00000262042:Q320X	Q	-	1	0	THSD7A	11642346	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.850000	0.86915	2.810000	0.96702	0.585000	0.79938	CAG		0.413	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		A	11675821	G	A	11675821	4	1	38	1	0	0	0	0	0	1	0	0	15879	1357	47	2	4119	2	THSD7A	7	11675821	Nonsense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09		11675821	147462842	14	1883											
ADCY1	107	genome.wustl.edu	37	7	45717574	45717574	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr7:45717574G>A	ENST00000297323.7	+	9	1734	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	571					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R571H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TACATCAGCCGCCTCTTAGAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	7											75	83	80					7																	45717574		2203	4300	6503	45684099	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1712G>A	7.37:g.45717574G>A	ENSP00000297323:p.Arg571His		45684099	A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239186	0.95240	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.80994	-1.44	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	L	0.56769	1.78	0.80722	D	1	P	0.42871	0.792	B	0.28232	0.087	T	0.74780	-0.3549	10	0.30078	T	0.28	.	16.3318	0.83023	0.0:0.0:1.0:0.0	.	571	Q08828	ADCY1_HUMAN	H	571	ENSP00000297323:R571H	ENSP00000297323:R571H	R	+	2	0	ADCY1	45684099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.260000	0.95568	2.445000	0.82738	0.655000	0.94253	CGC		0.507	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		A	45717574	G	A	45717574	3	1	38	1	0	0	0	0	1	0	0	0	292	1087	38	1	1746	1	ADCY1	7	45717574	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09	34041753	45717574	113421089	15	1884											
PPP1R3A	5506	genome.wustl.edu	37	7	113558949	113558949	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr7:113558949G>A	ENST00000284601.3	-	1	171	c.103C>T	c.(103-105)Cct>Tct	p.P35S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	35					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.P35S(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGAAACCAGGTTGGAAAGTA	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											78	81	80					7																	113558949		2203	4300	6503	113346185	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.103C>T	7.37:g.113558949G>A	ENSP00000284601:p.Pro35Ser		113346185	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151505	0.78001	.	.	ENSG00000154415	ENST00000284601	T	0.19669	2.13	6.17	6.17	0.99709	.	0.183813	0.48286	D	0.000194	T	0.49660	0.1570	M	0.74881	2.28	0.58432	D	0.999996	D	0.89917	1.0	D	0.68765	0.96	T	0.29488	-1.0010	10	0.49607	T	0.09	-0.1205	20.8794	0.99867	0.0:0.0:1.0:0.0	.	35	Q16821	PPR3A_HUMAN	S	35	ENSP00000284601:P35S	ENSP00000284601:P35S	P	-	1	0	PPP1R3A	113346185	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.133000	0.71682	2.941000	0.99782	0.655000	0.94253	CCT		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113558949	G	A	113558949	3	1	38	1	0	0	0	0	1	0	0	0	12374	1261	44	2	3281	2	PPP1R3A	7	113558949	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09	67841375	113558949	45579714	16	1885											
HIPK2	28996	genome.wustl.edu	37	7	139416581	139416581	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr7:139416581C>T	ENST00000406875.3	-	2	347	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	HIPK2_ENST00000342645.6_Missense_Mutation_p.V85I|HIPK2_ENST00000428878.2_Missense_Mutation_p.V85I	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	85					adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.V85I(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CCTGGGAAGACGATGGTCTGC	0.602																																																1	Substitution - Missense(1)	ovary(1)	7											109	101	104					7																	139416581		1568	3582	5150	139063067	SO:0001583	missense	653052			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.253G>A	7.37:g.139416581C>T	ENSP00000385571:p.Val85Ile		139063067	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37		.	.	.	.	.	.	.	.	.	.	T	5.337	0.247425	0.10130	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.50813	0.73;0.73;0.73	5.28	2.67	0.31697	.	.	.	.	.	T	0.27594	0.0678	.	.	.	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23762	-1.0179	8	0.16420	T	0.52	.	7.4495	0.27229	0.0:0.0709:0.269:0.6601	.	85;85	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	I	85	ENSP00000385571:V85I;ENSP00000413724:V85I;ENSP00000343108:V85I	ENSP00000343108:V85I	V	-	1	0	HIPK2	139063067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.704000	0.37857	0.297000	0.22615	-0.360000	0.07572	GTC		0.602	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		T	139416581	C	T	139416581	3	4	38	1	0	0	0	0	1	0	0	0	7117	536	19	1	3399	1	HIPK2	7	139416581	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09	25857632	139416581	19722082	17	1886											
NTRK2	4915	genome.wustl.edu	37	9	87570331	87570331	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr9:87570331C>T	ENST00000323115.4	+	15	2376	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	NTRK2_ENST00000376213.1_Missense_Mutation_p.R675C|NTRK2_ENST00000277120.3_Missense_Mutation_p.R691C|NTRK2_ENST00000376214.1_Missense_Mutation_p.R691C			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	675	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)	p.R691C(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CTTCGTGCACCGCGATTTGGC	0.612										TSP Lung(25;0.17)																																						1	Substitution - Missense(1)	ovary(1)	9											59	57	57					9																	87570331		2203	4300	6503	86760151	SO:0001583	missense	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2023C>T	9.37:g.87570331C>T	ENSP00000314586:p.Arg675Cys		86760151	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481454	0.84747	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.98	4.98	0.66077	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.96530	0.9392	10	0.87932	D	0	.	18.2752	0.90080	0.0:1.0:0.0:0.0	.	675;691;721	Q16620;Q16620-4;Q59GJ1	NTRK2_HUMAN;.;.	C	691;675;691;675	ENSP00000365387:R691C;ENSP00000365386:R675C;ENSP00000277120:R691C;ENSP00000314586:R675C	ENSP00000277120:R691C	R	+	1	0	NTRK2	86760151	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	4.936000	0.63506	2.320000	0.78422	0.655000	0.94253	CGC		0.612	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			T	87570331	C	T	87570331	3	4	38	1	0	0	0	0	1	0	0	0	10707	652	23	1	2208	1	NTRK2	9	87570331	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09		87570331	53643100	18	1887											
LGI1	9211	genome.wustl.edu	37	10	95553059	95553059	+	Missense_Mutation	SNP	G	G	C			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr10:95553059G>C	ENST00000371418.4	+	7	1050	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	LGI1_ENST00000542308.1_Missense_Mutation_p.E216Q|LGI1_ENST00000371413.3_Missense_Mutation_p.E264Q	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	264					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.E264Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CATTTTCCTTGAATGGGACCA	0.368																																																1	Substitution - Missense(1)	ovary(1)	10											131	123	126					10																	95553059		2203	4300	6503	95543049	SO:0001583	missense	9211			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.790G>C	10.37:g.95553059G>C	ENSP00000360472:p.Glu264Gln		95543049	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845838	0.51164	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	T;T;T	0.79749	-1.3;-1.3;-1.3	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.75027	0.3794	L	0.52011	1.625	0.80722	D	1	P;B;B	0.35628	0.513;0.138;0.167	B;B;B	0.32533	0.147;0.049;0.117	T	0.72693	-0.4216	10	0.28530	T	0.3	-16.0368	15.8221	0.78662	0.0:0.1357:0.8643:0.0	.	216;264;264	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	Q	216;264;264	ENSP00000440763:E216Q;ENSP00000360472:E264Q;ENSP00000360467:E264Q	ENSP00000360467:E264Q	E	+	1	0	LGI1	95543049	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.723000	0.84788	2.835000	0.97688	0.650000	0.86243	GAA		0.368	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		C	95553059	G	C	95553059	3	2	38	1	0	0	0	0	1	0	0	0	8751	1291	45	3	816	3	LGI1	10	95553059	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09		95553059	39981688	19	1888											
MYO7A	4647	genome.wustl.edu	37	11	76870560	76870560	+	Silent	SNP	C	C	G			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr11:76870560C>G	ENST00000409709.3	+	10	1343	c.1071C>G	c.(1069-1071)tcC>tcG	p.S357S	MYO7A_ENST00000409893.1_Silent_p.S357S|MYO7A_ENST00000409619.2_Silent_p.S346S|MYO7A_ENST00000458637.2_Silent_p.S357S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	357	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.S357S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGCTGCATCCCTGCTTGAGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	11											85	88	87					11																	76870560		2033	4202	6235	76548208	SO:0001819	synonymous_variant	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1071C>G	11.37:g.76870560C>G			76548208	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	CCDS53683.1																																																																																				0.567	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		G	76870560	C	G	76870560	2	3	38	1	0	0	0	0	0	0	0	1	10082	610	22	3		3	MYO7A	11	76870560	Silent	SNP	C	TCGA-09-0366-01A-01W-0372-09		76870560	58135956	20	1889											
PABPN1	8106	genome.wustl.edu	37	14	23791502	23791502	+	Missense_Mutation	SNP	A	A	G			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr14:23791502A>G	ENST00000216727.4	+	2	645	c.464A>G	c.(463-465)aAt>aGt	p.N155S	AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.N182S|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.N182S|PABPN1_ENST00000556821.1_Missense_Mutation_p.N27S|PABPN1_ENST00000397276.2_Missense_Mutation_p.N155S|PABPN1_ENST00000557702.1_Missense_Mutation_p.N27S	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	155	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N155S(1)		large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCTCCAGGCAATGGTGAGTAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	14											47	39	42					14																	23791502		2203	4300	6503	22861342	SO:0001583	missense	8106			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.464A>G	14.37:g.23791502A>G	ENSP00000216727:p.Asn155Ser		22861342	D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	A	7.684	0.689606	0.14973	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.54479	2.98;2.98;0.57;0.99;2.31;2.32	5.2	5.2	0.72013	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000006	T	0.28699	0.0711	N	0.10972	0.075	0.40485	D	0.980481	B;B;P	0.34743	0.021;0.012;0.466	B;B;B	0.29353	0.009;0.02;0.101	T	0.23048	-1.0199	10	0.07482	T	0.82	-10.3516	14.3316	0.66561	1.0:0.0:0.0:0.0	.	155;155;182	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	S	182;182;155;155;27;27	ENSP00000451320:N182S;ENSP00000452479:N182S;ENSP00000216727:N155S;ENSP00000380446:N155S;ENSP00000451970:N27S;ENSP00000450724:N27S	ENSP00000216727:N155S	N	+	2	0	PABPN1;RP11-124D2.2	22861342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.493000	0.66899	2.084000	0.62774	0.459000	0.35465	AAT		0.552	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		G	23791502	A	G	23791502	3	3	38	1	0	0	0	0	1	0	0	0	11368	101	4	4	470	4	PABPN1	14	23791502	Missense_Mutation	SNP	A	TCGA-09-0366-01A-01W-0372-09		23791502	83558038	21	1890											
CPSF2	53981	genome.wustl.edu	37	14	92628044	92628044	+	Missense_Mutation	SNP	T	T	G			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr14:92628044T>G	ENST00000298875.4	+	16	2590	c.2305T>G	c.(2305-2307)Tat>Gat	p.Y769D		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	769					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.Y769D(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TCAAGATTTTTATAGGATAAG	0.313																																					Ovarian(78;28 1788 18702 44111)											1	Substitution - Missense(1)	ovary(1)	14											72	70	71					14																	92628044		2203	4298	6501	91697797	SO:0001583	missense	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2305T>G	14.37:g.92628044T>G	ENSP00000298875:p.Tyr769Asp		91697797	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418428	0.83559	.	.	ENSG00000165934	ENST00000298875	T	0.61859	0.07	5.7	5.7	0.88788	.	0.059083	0.64402	D	0.000001	T	0.77471	0.4135	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.80961	-0.1148	10	0.87932	D	0	.	15.9745	0.80049	0.0:0.0:0.0:1.0	.	769	Q9P2I0	CPSF2_HUMAN	D	769	ENSP00000298875:Y769D	ENSP00000298875:Y769D	Y	+	1	0	CPSF2	91697797	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.208000	0.77907	2.168000	0.68352	0.533000	0.62120	TAT		0.313	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			G	92628044	T	G	92628044	3	3	38	1	0	0	0	0	1	0	0	0	3825	1754	61	5	2359	5	CPSF2	14	92628044	Missense_Mutation	SNP	T	TCGA-09-0366-01A-01W-0372-09	68836542	92628044	14721496	22	1891											
NDUFAF1	51103	genome.wustl.edu	37	15	41687146	41687146	+	Missense_Mutation	SNP	T	T	G			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr15:41687146T>G	ENST00000260361.4	-	3	1051	c.670A>C	c.(670-672)Aag>Cag	p.K224Q		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	224					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)	p.K224Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GTGTCCTCCTTGATATTCACC	0.488																																																1	Substitution - Missense(1)	ovary(1)	15											121	100	107					15																	41687146		2203	4300	6503	39474438	SO:0001583	missense	51103			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.670A>C	15.37:g.41687146T>G	ENSP00000260361:p.Lys224Gln		39474438	Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	T	8.253	0.809415	0.16537	.	.	ENSG00000137806	ENST00000260361	T	0.78003	-1.14	5.63	1.82	0.25136	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	1.105750	0.06535	N	0.742217	T	0.52289	0.1725	N	0.03071	-0.42	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.36986	-0.9725	10	0.09084	T	0.74	-15.7331	7.6878	0.28550	0.1588:0.0:0.328:0.5132	.	224	Q9Y375	CIA30_HUMAN	Q	224	ENSP00000260361:K224Q	ENSP00000260361:K224Q	K	-	1	0	NDUFAF1	39474438	0.004000	0.15560	0.056000	0.19401	0.917000	0.54804	0.484000	0.22308	0.106000	0.17784	0.451000	0.29950	AAG		0.488	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		G	41687146	T	G	41687146	3	3	38	1	0	0	0	0	1	0	0	0	10274	1821	63	5	325	5	NDUFAF1	15	41687146	Missense_Mutation	SNP	T	TCGA-09-0366-01A-01W-0372-09		41687146	60844246	23	1892											
LIPC	3990	genome.wustl.edu	37	15	58830576	58830576	+	Silent	SNP	C	C	T	rs374220111		TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr15:58830576C>T	ENST00000356113.6	+	4	748	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	LIPC_ENST00000299022.5_Silent_p.L45L|LIPC_ENST00000433326.2_Silent_p.L45L|LIPC_ENST00000414170.3_Silent_p.L45L			P11150	LIPC_HUMAN	lipase, hepatic	45					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.L45L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAACAAAACGCTGCATGAGAT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	15						C		1,4383	2.1+/-5.4	0,1,2191	168	166	167		133	-3.7	0	15		167	0,8584		0,0,4292	no	coding-synonymous	LIPC	NM_000236.2		0,1,6483	TT,TC,CC		0.0,0.0228,0.0077		45/500	58830576	1,12967	2192	4292	6484	56617868	SO:0001819	synonymous_variant	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.133C>T	15.37:g.58830576C>T			56617868	A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	CCDS10166.1																																																																																				0.478	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			T	58830576	C	T	58830576	2	4	38	1	0	0	0	0	0	0	0	1	8820	796	28	2		2	LIPC	15	58830576	Silent	SNP	C	TCGA-09-0366-01A-01W-0372-09	17143430	58830576	43700816	24	1893											
LRRC49	54839	genome.wustl.edu	37	15	71229155	71229155	+	Missense_Mutation	SNP	T	T	G			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr15:71229155T>G	ENST00000260382.5	+	8	1027	c.767T>G	c.(766-768)aTa>aGa	p.I256R	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_De_novo_Start_OutOfFrame|LRRC49_ENST00000560691.1_De_novo_Start_InFrame|LRRC49_ENST00000560369.1_Missense_Mutation_p.I261R|LRRC49_ENST00000544974.2_Missense_Mutation_p.I246R|LRRC49_ENST00000443425.2_Missense_Mutation_p.I212R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	256						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.I256R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTTAACAATATATCTAGGTAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	15											68	69	69					15																	71229155		2199	4297	6496	69016209	SO:0001583	missense	54839				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.767T>G	15.37:g.71229155T>G	ENSP00000260382:p.Ile256Arg		69016209	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745652	0.69418	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.30714	1.54;1.52;1.52	5.62	5.62	0.85841	.	0.062166	0.64402	D	0.000005	T	0.69548	0.3123	H	0.97240	3.965	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.997;0.994;0.991;0.997;0.996	T	0.80933	-0.1161	10	0.87932	D	0	-22.0752	13.7591	0.62954	0.0:0.0:0.0:1.0	.	261;228;212;256;246	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	R	246;256;212;228	ENSP00000439600:I246R;ENSP00000260382:I256R;ENSP00000414065:I212R	ENSP00000260382:I256R	I	+	2	0	LRRC49	69016209	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.409000	0.66374	2.133000	0.65898	0.482000	0.46254	ATA		0.333	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		G	71229155	T	G	71229155	3	3	38	1	0	0	0	0	1	0	0	0	9006	1406	49	5	797	5	LRRC49	15	71229155	Missense_Mutation	SNP	T	TCGA-09-0366-01A-01W-0372-09	12398579	71229155	31302237	25	1894											
ADAMTS17	170691	genome.wustl.edu	37	15	100695449	100695449	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr15:100695449C>T	ENST00000268070.4	-	9	1363	c.1258G>A	c.(1258-1260)Ggc>Agc	p.G420S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	420	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G420S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGGTTCCGGCCTTTCACCCAC	0.517																																																1	Substitution - Missense(1)	ovary(1)	15											99	90	93					15																	100695449		2203	4300	6503	98512972	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1258G>A	15.37:g.100695449C>T	ENSP00000268070:p.Gly420Ser		98512972	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488333	0.96323	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.86956	-2.19	5.38	5.38	0.77491	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	N	0.11255	0.115	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74348	0.977;0.983	D	0.87693	0.2555	10	0.33940	T	0.23	.	19.1285	0.93396	0.0:1.0:0.0:0.0	.	177;420	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	S	420;177	ENSP00000268070:G420S	ENSP00000268070:G420S	G	-	1	0	ADAMTS17	98512972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.003000	0.76310	2.489000	0.83994	0.655000	0.94253	GGC		0.517	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		T	100695449	C	T	100695449	3	4	38	1	0	0	0	0	1	0	0	0	262	681	24	2	2085	2	ADAMTS17	15	100695449	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09	29466294	100695449	1835943	26	1895											
HS3ST2	9956	genome.wustl.edu	37	16	22926412	22926412	+	Silent	SNP	C	C	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr16:22926412C>T	ENST00000261374.3	+	2	1067	c.633C>T	c.(631-633)gcC>gcT	p.A211A		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	211					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.A211A(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TGACCCGTGCCATCTCTGATT	0.587																																																1	Substitution - coding silent(1)	ovary(1)	16											134	117	122					16																	22926412		2197	4300	6497	22833913	SO:0001819	synonymous_variant	9956			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.633C>T	16.37:g.22926412C>T			22833913	Q52LZ1	Silent	SNP	ENST00000261374.3	37	CCDS10606.1																																																																																				0.587	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		T	22926412	C	T	22926412	2	4	38	1	0	0	0	0	0	0	0	1	7364	581	21	2		2	HS3ST2	16	22926412	Silent	SNP	C	TCGA-09-0366-01A-01W-0372-09		22926412	67428341	27	1896											
CDH3	1001	genome.wustl.edu	37	16	68718540	68718540	+	Missense_Mutation	SNP	G	G	A	rs369109043		TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr16:68718540G>A	ENST00000264012.4	+	10	1781	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	CDH3_ENST00000429102.2_Missense_Mutation_p.E413K|CDH3_ENST00000581171.1_Missense_Mutation_p.E358K	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	413	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.E413K(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGTGACCAACGAGGCCCCTTT	0.527																																																3	Unknown(2)|Substitution - Missense(1)	breast(2)|ovary(1)	16						G	LYS/GLU	0,4396		0,0,2198	185	193	190		1237	5.3	0.5	16		190	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH3	NM_001793.4	56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	413/830	68718540	1,12995	2198	4300	6498	67276041	SO:0001583	missense	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1237G>A	16.37:g.68718540G>A	ENSP00000264012:p.Glu413Lys		67276041	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845400	0.51164	0.0	1.16E-4	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.52057	0.68;0.68	5.28	5.28	0.74379	Cadherin (4);Cadherin-like (1);	0.000000	0.39834	N	0.001242	T	0.34366	0.0895	N	0.21508	0.67	0.58432	D	0.999993	P	0.38565	0.637	B	0.33799	0.17	T	0.20273	-1.0280	10	0.41790	T	0.15	.	16.3954	0.83604	0.0:0.0:1.0:0.0	.	413	P22223	CADH3_HUMAN	K	413;413;358	ENSP00000398485:E413K;ENSP00000264012:E413K	ENSP00000264012:E413K	E	+	1	0	CDH3	67276041	1.000000	0.71417	0.493000	0.27502	0.369000	0.29798	5.413000	0.66399	2.474000	0.83562	0.561000	0.74099	GAG		0.527	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		A	68718540	G	A	68718540	3	1	38	1	0	0	0	0	1	0	0	0	3111	1059	37	1	1275	1	CDH3	16	68718540	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09	45792128	68718540	21636213	28	1897											
TP53	7157	genome.wustl.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr17:7578534C>A	ENST00000269305.4	-	5	585	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.K132N	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)	GGCAAAACATCTTGTTGAGGG	0.562		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"	77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	17											47	48	48					17																	7578534		2203	4300	6503	7519259	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.396G>T	17.37:g.7578534C>A	ENSP00000269305:p.Lys132Asn		7519259	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186174	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	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	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578534	C	A	7578534	3	1	38	1	0	0	0	0	1	0	0	0	16381	912	32	3	902	3	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09		7578534	73616676	29	1898											
SPACA3	124912	genome.wustl.edu	37	17	31322540	31322540	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr17:31322540G>A	ENST00000269053.3	+	2	218	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR|SPACA3_ENST00000394638.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	50					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.A50T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTCCACCTCTGCCGCCGGCAT	0.617																																																1	Substitution - Missense(1)	ovary(1)	17											61	56	58					17																	31322540		2203	4300	6503	28346653	SO:0001583	missense	124912			AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.148G>A	17.37:g.31322540G>A	ENSP00000269053:p.Ala50Thr		28346653	Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	g	10.00	1.233324	0.22626	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.70164	-0.46	3.16	-0.00996	0.13998	.	3.167960	0.01388	N	0.013172	T	0.49389	0.1554	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19549	-1.0302	10	0.25751	T	0.34	-8.5885	4.3368	0.11090	0.1752:0.0:0.635:0.1898	.	50	Q8IXA5	SACA3_HUMAN	T	50;51	ENSP00000269053:A50T	ENSP00000269053:A50T	A	+	1	0	SPACA3	28346653	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.647000	0.05397	-0.009000	0.14296	-0.516000	0.04426	GCC		0.617	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		A	31322540	G	A	31322540	3	1	38	1	0	0	0	0	1	0	0	0	14976	1319	46	2	154	2	SPACA3	17	31322540	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09	23744006	31322540	49872670	30	1899											
LRRC46	90506	genome.wustl.edu	37	17	45912765	45912765	+	Splice_Site	SNP	G	G	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr17:45912765G>A	ENST00000269025.4	+	4	635	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	91								p.R91H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCCTCCTTGCGGTATGTGGTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	17											113	109	110					17																	45912765		2203	4300	6503	43267764	SO:0001630	splice_region_variant	90506				CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.272+1G>A	17.37:g.45912765G>A			43267764	A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332759	0.81801	.	.	ENSG00000141294	ENST00000269025	T	0.61158	0.13	5.39	5.39	0.77823	.	0.102516	0.45361	D	0.000366	T	0.65217	0.2670	L	0.39147	1.195	0.39381	D	0.966257	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.68265	-0.5454	10	0.66056	D	0.02	-17.1036	10.2653	0.43452	0.0904:0.0:0.9096:0.0	.	91;91	A8K9Q0;Q96FV0	.;LRC46_HUMAN	H	91	ENSP00000269025:R91H	ENSP00000269025:R91H	R	+	2	0	LRRC46	43267764	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.271000	0.43364	2.549000	0.85964	0.644000	0.83932	CGC		0.537	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413	Missense_Mutation	A	45912765	G	A	45912765	5	1	38	1	0	0	0	0	0	0	1	0	9003	1130	39	1	286	1	LRRC46	17	45912765	Splice_Site	SNP	G	TCGA-09-0366-01A-01W-0372-09	14590225	45912765	35282445	31	1900											
GPRC5C	55890	genome.wustl.edu	37	17	72436456	72436456	+	Missense_Mutation	SNP	C	C	T	rs374834578		TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr17:72436456C>T	ENST00000392627.1	+	2	1802	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	GPRC5C_ENST00000392629.2_Missense_Mutation_p.R193W|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	181					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.R226W(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CACCCTGGTTCGGGGCAGTGG	0.632																																																1	Substitution - Missense(1)	ovary(1)	17						C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	49	50	50		577,676	4.7	0.7	17		50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GPRC5C	NM_018653.3,NM_022036.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	193/454,226/487	72436456	1,13005	2203	4300	6503	69948051	SO:0001583	missense	55890			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.676C>T	17.37:g.72436456C>T	ENSP00000376403:p.Arg226Trp		69948051	B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456445	0.43634	0.0	1.16E-4	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.88975	-2.45	5.79	4.74	0.60224	GPCR, family 3, C-terminal (2);	0.055445	0.64402	D	0.000001	D	0.94830	0.8330	M	0.86502	2.82	0.51012	D	0.999904	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.95256	0.8364	10	0.87932	D	0	-6.8953	15.0481	0.71844	0.1511:0.8489:0.0:0.0	.	181;181;193	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	W	181;226;193;181	ENSP00000376405:R193W	ENSP00000340595:R226W	R	+	1	2	GPRC5C	69948051	0.881000	0.30235	0.714000	0.30535	0.129000	0.20672	1.781000	0.38644	2.735000	0.93741	0.561000	0.74099	CGG		0.632	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			T	72436456	C	T	72436456	3	4	38	1	0	0	0	0	1	0	0	0	6726	875	31	1	690	1	GPRC5C	17	72436456	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09	26523691	72436456	8758754	32	1901											
HRH4	59340	genome.wustl.edu	37	18	22057170	22057170	+	Missense_Mutation	SNP	G	G	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr18:22057170G>T	ENST00000256906.4	+	3	917	c.817G>T	c.(817-819)Gct>Tct	p.A273S	HRH4_ENST00000426880.2_Missense_Mutation_p.A185S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	273					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.A273S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CAATACAATTGCTTCCAAAAT	0.438																																																1	Substitution - Missense(1)	ovary(1)	18											126	127	126					18																	22057170		2203	4300	6503	20311168	SO:0001583	missense	59340			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.817G>T	18.37:g.22057170G>T	ENSP00000256906:p.Ala273Ser		20311168	B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	9.714	1.157929	0.21454	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.69175	-0.38;-0.24	5.26	-1.21	0.09524	GPCR, rhodopsin-like superfamily (1);	0.516748	0.19552	N	0.111552	T	0.43700	0.1259	L	0.37850	1.14	0.09310	N	1	B;B	0.29612	0.251;0.1	B;B	0.28305	0.067;0.088	T	0.30909	-0.9962	10	0.07990	T	0.79	-2.3389	4.5768	0.12238	0.4295:0.0:0.3403:0.2301	.	185;273	B2KJ48;Q9H3N8	.;HRH4_HUMAN	S	273;185	ENSP00000256906:A273S;ENSP00000402526:A185S	ENSP00000256906:A273S	A	+	1	0	HRH4	20311168	0.000000	0.05858	0.033000	0.17914	0.193000	0.23685	-0.349000	0.07731	-0.088000	0.12506	0.650000	0.86243	GCT		0.438	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			T	22057170	G	T	22057170	3	4	38	1	0	0	0	0	1	0	0	0	7358	1319	46	3	827	3	HRH4	18	22057170	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09		22057170	56020078	33	1902											
MAST3	23031	genome.wustl.edu	37	19	18254610	18254610	+	Missense_Mutation	SNP	T	T	A			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr19:18254610T>A	ENST00000262811.6	+	21	2290	c.2290T>A	c.(2290-2292)Tca>Aca	p.S764T	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	764	Poly-Ser.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S786T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTCCTGTCAGTCATCTTCGTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											34	37	36					19																	18254610		2043	4191	6234	18115610	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2290T>A	19.37:g.18254610T>A	ENSP00000262811:p.Ser764Thr		18115610	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	T	8.580	0.882018	0.17467	.	.	ENSG00000099308	ENST00000262811	T	0.67865	-0.29	3.51	2.48	0.30137	.	0.297248	0.32231	N	0.006398	T	0.60051	0.2239	M	0.74467	2.265	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.51100	-0.8748	10	0.33141	T	0.24	-3.159	5.6107	0.17404	0.0:0.2737:0.0:0.7263	.	764	O60307	MAST3_HUMAN	T	764	ENSP00000262811:S764T	ENSP00000262811:S764T	S	+	1	0	MAST3	18115610	0.017000	0.18338	0.218000	0.23776	0.718000	0.41266	0.768000	0.26590	0.460000	0.27045	0.402000	0.26972	TCA		0.602	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		A	18254610	T	A	18254610	3	1	38	1	0	0	0	0	1	0	0	0	9326	1667	58	5	2372	5	MAST3	19	18254610	Missense_Mutation	SNP	T	TCGA-09-0366-01A-01W-0372-09		18254610	40874373	34	1903											
PSG11	5680	genome.wustl.edu	37	19	43519321	43519321	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr19:43519321C>T	ENST00000401740.1	-	4	1014	c.911G>A	c.(910-912)cGt>cAt	p.R304H	PSG11_ENST00000403486.1_Missense_Mutation_p.R182H|PSG11_ENST00000320078.7_Missense_Mutation_p.R304H|PSG11_ENST00000306322.7_Missense_Mutation_p.R182H|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	313	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGCTGAGTTACGAGCAGAGCA	0.453																																																0			19											145	140	142					19																	43519321		2199	4297	6496	48211161	SO:0001583	missense	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.911G>A	19.37:g.43519321C>T	ENSP00000384995:p.Arg304His		48211161	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.246828	0.00271	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	0.976	-1.95	0.07548	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08268	0.0206	L	0.45581	1.43	0.09310	N	1	B;B	0.26876	0.162;0.025	B;B	0.25614	0.062;0.021	T	0.42682	-0.9437	9	0.08837	T	0.75	.	2.1676	0.03841	0.0:0.3412:0.3423:0.3165	.	182;304	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	H	304;182;182;304	ENSP00000319140:R304H;ENSP00000385427:R182H;ENSP00000304913:R182H;ENSP00000384995:R304H	ENSP00000304913:R182H	R	-	2	0	PSG11	48211161	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	-0.379000	0.07437	-0.424000	0.07382	0.184000	0.17185	CGT		0.453	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		T	43519321	C	T	43519321	3	4	38	1	0	0	0	0	1	0	0	0	12657	536	19	1	104	1	PSG11	19	43519321	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09	25264711	43519321	15609662	35	1904											
DLGAP4	22839	genome.wustl.edu	37	20	35060830	35060830	+	Missense_Mutation	SNP	G	G	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr20:35060830G>T	ENST00000373907.2	+	2	909	c.710G>T	c.(709-711)aGc>aTc	p.S237I	DLGAP4_ENST00000401952.2_Missense_Mutation_p.S237I|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S237I|DLGAP4_ENST00000373913.3_Missense_Mutation_p.S237I			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	237					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.S237I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAGAACGCAGCCAGCCACGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											81	77	79					20																	35060830		2202	4300	6502	34494244	SO:0001583	missense	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.710G>T	20.37:g.35060830G>T	ENSP00000363014:p.Ser237Ile		34494244	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37		.	.	.	.	.	.	.	.	.	.	G	12.62	1.991950	0.35131	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.12984	2.63;2.63;2.64;2.64	5.24	-1.73	0.08081	.	0.554695	0.20671	N	0.087823	T	0.15869	0.0382	L	0.60455	1.87	0.20196	N	0.999924	B	0.27853	0.191	B	0.32149	0.141	T	0.32693	-0.9897	10	0.56958	D	0.05	.	14.8897	0.70600	0.0:0.5304:0.3788:0.0908	.	237	Q9Y2H0-1	.	I	237	ENSP00000363023:S237I;ENSP00000384954:S237I;ENSP00000363014:S237I;ENSP00000341633:S237I	ENSP00000341633:S237I	S	+	2	0	DLGAP4	34494244	0.993000	0.37304	0.991000	0.47740	0.981000	0.71138	0.756000	0.26419	-0.095000	0.12351	0.462000	0.41574	AGC		0.622	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		T	35060830	G	T	35060830	3	4	38	1	0	0	0	0	1	0	0	0	4562	971	34	3	712	3	DLGAP4	20	35060830	Missense_Mutation	SNP	G	TCGA-09-0366-01A-01W-0372-09		35060830	27964690	36	1905											
EIF4ENIF1	56478	genome.wustl.edu	37	22	31836737	31836737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	-	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chr22:31836737delC	ENST00000397525.1	-	18	2892	c.2669delG	c.(2668-2670)ggafs	p.G890fs	EIF4ENIF1_ENST00000344710.5_Frame_Shift_Del_p.G716fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Del_p.G890fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Del_p.G545fs|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Frame_Shift_Del_p.G866fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	890						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.G890fs*89(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGAGGTGTTCCAGGACGAGG	0.517																																																1	Deletion - Frameshift(1)	ovary(1)	22											138	125	129					22																	31836737		2203	4300	6503	30166737	SO:0001589	frameshift_variant	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2669delG	22.37:g.31836737delC	ENSP00000380659:p.Gly890fs		30166737	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Frame_Shift_Del	DEL	ENST00000397525.1	37	CCDS13898.1																																																																																				0.517	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		-	31836737	C	-	31836737	7	5	38	1	0	1	0	1	0	0	0	0	5035	855	30	0	296	0	EIF4ENIF1	22	31836737	Frame_Shift_Del	DEL	C	TCGA-09-0366-01A-01W-0372-09		31836737	19467829	37	1906											
MBTPS2	51360	genome.wustl.edu	37	X	21861408	21861408	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chrX:21861408C>T	ENST00000379484.5	+	2	295	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.R66W	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	66					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R66W(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAGTTGGGGACGGCGGAAAGC	0.408																																																1	Substitution - Missense(1)	ovary(1)	X											195	194	194					X																	21861408		2203	4300	6503	21771329	SO:0001583	missense	51360			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.196C>T	X.37:g.21861408C>T	ENSP00000368798:p.Arg66Trp		21771329	Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046546	0.75846	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.94280	-3.39;-2.25	4.95	4.95	0.65309	.	0.114641	0.64402	D	0.000015	D	0.95522	0.8545	M	0.72894	2.215	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.65573	0.936;0.936;0.854	D	0.95461	0.8543	10	0.62326	D	0.03	-5.3103	12.0663	0.53590	0.2266:0.7734:0.0:0.0	.	66;66;66	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	W	66	ENSP00000368798:R66W;ENSP00000368796:R66W	ENSP00000368796:R66W	R	+	1	2	MBTPS2	21771329	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.994000	0.40757	2.301000	0.77427	0.538000	0.68166	CGG		0.408	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			T	21861408	C	T	21861408	3	4	38	1	0	0	0	0	1	0	0	0	9362	527	19	1	202	1	MBTPS2	23	21861408	Missense_Mutation	SNP	C	TCGA-09-0366-01A-01W-0372-09		21861408	133409152	38	1907											
ARR3	407	genome.wustl.edu	37	X	69496551	69496551	+	Silent	SNP	C	C	T			TCGA-09-0366-01A-01W-0372-09	TCGA-09-0366-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	62269d21-50dc-42b0-b1e4-75ed8010080a	79fa14ed-bc6b-444f-a2d0-b69ec117defd	g.chrX:69496551C>T	ENST00000307959.8	+	8	489	c.438C>T	c.(436-438)ttC>ttT	p.F146F	ARR3_ENST00000374495.3_Silent_p.F146F	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	146					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.F146F(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TGAAGAGTTTCTGTGCTGAAA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	X											110	96	101					X																	69496551		2203	4300	6503	69413276	SO:0001819	synonymous_variant	407				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.438C>T	X.37:g.69496551C>T			69413276	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	CCDS14399.1																																																																																				0.507	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		T	69496551	C	T	69496551	2	4	38	1	0	0	0	0	0	0	0	1	979	912	32	2		2	ARR3	23	69496551	Silent	SNP	C	TCGA-09-0366-01A-01W-0372-09	47635143	69496551	85774009	39	1908											
KIAA0467	23334	genome.wustl.edu	37	1	43896652	43896652	+	Missense_Mutation	SNP	G	G	A	rs537199503		TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr1:43896652G>A	ENST00000562955.1	+	32	4636	c.4636G>A	c.(4636-4638)Gtt>Att	p.V1546I	SZT2_ENST00000372442.1_Missense_Mutation_p.V704I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1603					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.V704I(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGCCCCCCAGTTGGAGGCCG	0.582																																																2	Substitution - Missense(2)	ovary(2)	1											57	55	56					1																	43896652		2203	4300	6503	43669239	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4636G>A	1.37:g.43896652G>A	ENSP00000457168:p.Val1546Ile		43669239	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309465	0.10733	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	-9.05	0.00730	.	1.311170	0.04727	N	0.420390	T	0.22475	0.0542	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13602	-1.0503	9	0.24483	T	0.36	.	7.4221	0.27077	0.1504:0.2454:0.5117:0.0924	.	1546	Q5T011-5	.	I	704	.	ENSP00000361519:V704I	V	+	1	0	SZT2	43669239	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.145000	0.03194	-1.116000	0.02969	-2.048000	0.00412	GTT		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		A	43896652	G	A	43896652	3	1	39	1	0	0	0	0	1	0	0	0	8178	1029	36	2	2172	2	KIAA0467	1	43896652	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09		43896652	205353969	1	1909											
SLC1A7	6512	genome.wustl.edu	37	1	53554599	53554599	+	Missense_Mutation	SNP	T	T	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr1:53554599T>A	ENST00000371494.4	-	10	1541	c.1414A>T	c.(1414-1416)Atc>Ttc	p.I472F	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	472					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.I472F(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TGGGCCATGATCCCCGCTGCC	0.617																																					NSCLC(128;80 1811 21245 38490 51715)											1	Substitution - Missense(1)	ovary(1)	1											101	83	89					1																	53554599		2203	4300	6503	53327187	SO:0001583	missense	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1414A>T	1.37:g.53554599T>A	ENSP00000360549:p.Ile472Phe		53327187	Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	CCDS574.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184440	0.94885	.	.	ENSG00000162383	ENST00000371494	T	0.63580	-0.05	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.87578	0.973;0.998	D	0.84495	0.0613	10	0.87932	D	0	-43.8407	15.7575	0.78046	0.0:0.0:0.0:1.0	.	472;125	O00341;B3KSM4	EAA5_HUMAN;.	F	472	ENSP00000360549:I472F	ENSP00000360549:I472F	I	-	1	0	SLC1A7	53327187	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.005000	0.88553	2.317000	0.78254	0.459000	0.35465	ATC		0.617	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		A	53554599	T	A	53554599	3	1	39	1	0	0	0	0	1	0	0	0	14440	1435	50	5	276	5	SLC1A7	1	53554599	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09	9657947	53554599	195696022	2	1910											
C1orf59	113802	genome.wustl.edu	37	1	109197423	109197423	+	Missense_Mutation	SNP	T	T	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr1:109197423T>G	ENST00000370032.5	-	5	733	c.313A>C	c.(313-315)Aat>Cat	p.N105H	HENMT1_ENST00000370031.1_Missense_Mutation_p.N105H|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.N105H	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	105					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.N105H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						ATGGTCAAATTCAGATCCCGA	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											87	80	83					1																	109197423		2203	4300	6503	108998946	SO:0001583	missense	113802				CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"HEN1 methyltransferase homolog (Arabidopsis)"	612178	"chromosome 1 open reading frame 59"	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.313A>C	1.37:g.109197423T>G	ENSP00000359049:p.Asn105His		108998946	A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	CCDS787.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.721023	0.30503	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.1	-2.07	0.07276	.	1.354520	0.04564	N	0.392021	T	0.18635	0.0447	L	0.27053	0.805	0.09310	N	1	D	0.53151	0.958	P	0.48334	0.574	T	0.05954	-1.0854	10	0.49607	T	0.09	-13.4666	2.3324	0.04239	0.2024:0.1619:0.1015:0.5342	.	105	Q5T8I9	HENMT_HUMAN	H	105	ENSP00000385655:N105H;ENSP00000359048:N105H;ENSP00000359049:N105H;ENSP00000403953:N105H	ENSP00000359048:N105H	N	-	1	0	HENMT1	108998946	0.185000	0.23213	0.001000	0.08648	0.004000	0.04260	0.514000	0.22786	-0.134000	0.11516	-0.248000	0.11899	AAT		0.363	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		G	109197423	T	G	109197423	3	3	39	1	0	0	0	0	1	0	0	0	2051	1783	62	5	884	5	C1orf59	1	109197423	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09	55642824	109197423	140053198	3	1911											
CD1C	911	genome.wustl.edu	37	1	158262529	158262529	+	Missense_Mutation	SNP	G	G	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr1:158262529G>T	ENST00000368170.3	+	4	1033	c.754G>T	c.(754-756)Ggt>Tgt	p.G252C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	252	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.G252C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CACTAAACATGGTGATATTCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											148	145	146					1																	158262529		2203	4300	6503	156529153	SO:0001583	missense	911			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.754G>T	1.37:g.158262529G>T	ENSP00000357152:p.Gly252Cys		156529153	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	13.15|13.15	2.151646|2.151646	0.38021|0.38021	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170;ENST00000454192|ENST00000443761	T|.	0.03004|.	4.08|.	3.62|3.62	2.7|2.7	0.31948|0.31948	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);|.	0.601763|.	0.13907|.	N|.	0.354518|.	T|T	0.68016|0.68016	0.2955|0.2955	H|H	0.98111|0.98111	4.15|4.15	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|T	0.62728|0.62728	-0.6793|-0.6793	10|5	0.87932|.	D|.	0|.	.|.	7.0798|7.0798	0.25225|0.25225	0.1273:0.0:0.8727:0.0|0.1273:0.0:0.8727:0.0	.|.	252;252|.	E9PGC9;P29017|.	.;CD1C_HUMAN|.	C|L	252;252;55|186	ENSP00000357152:G252C|.	ENSP00000357151:G252C|.	G|W	+|+	1|2	0|0	CD1C|CD1C	156529153|156529153	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.643000|0.643000	0.24750|0.24750	0.871000|0.871000	0.35750|0.35750	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.527	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		T	158262529	G	T	158262529	3	4	39	1	0	0	0	0	1	0	0	0	2976	1348	47	3	768	3	CD1C	1	158262529	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	49065106	158262529	90988092	4	1912											
ETNK2	55224	genome.wustl.edu	37	1	204115852	204115852	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr1:204115852C>T	ENST00000367202.4	-	3	709	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	ETNK2_ENST00000367198.2_Missense_Mutation_p.A9T|ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367201.3_Missense_Mutation_p.A187T	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	187					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.A187T(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGCCGTTGGCGTGGATAGTA	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											155	132	139					1																	204115852		2203	4300	6503	202382475	SO:0001583	missense	55224			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.559G>A	1.37:g.204115852C>T	ENSP00000356170:p.Ala187Thr		202382475	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820409	0.50633	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.34	3.46	0.39613	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.288050	0.38959	N	0.001506	T	0.39809	0.1092	L	0.35854	1.095	0.36205	D	0.850983	B;B	0.27971	0.015;0.196	B;B	0.17098	0.014;0.017	T	0.34775	-0.9815	10	0.13470	T	0.59	-13.5273	8.6803	0.34205	0.0:0.7599:0.0:0.2401	.	187;187	Q9NVF9;Q9NVF9-2	EKI2_HUMAN;.	T	187;187;53;9;53;44	ENSP00000356169:A187T;ENSP00000356170:A187T;ENSP00000356166:A9T;ENSP00000405497:A53T;ENSP00000398091:A44T	ENSP00000356166:A9T	A	-	1	0	ETNK2	202382475	0.999000	0.42202	0.973000	0.42090	0.998000	0.95712	2.541000	0.45735	0.809000	0.34255	0.655000	0.94253	GCC		0.502	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		T	204115852	C	T	204115852	3	4	39	1	0	0	0	0	1	0	0	0	5274	768	27	1	625	1	ETNK2	1	204115852	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	45853323	204115852	45134769	5	1913											
TRAF3IP3	80342	genome.wustl.edu	37	1	209948835	209948835	+	Splice_Site	SNP	G	G	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr1:209948835G>T	ENST00000367024.1	+	10	1431		c.e10+1		TRAF3IP3_ENST00000400959.3_Splice_Site|TRAF3IP3_ENST00000477431.1_Splice_Site|TRAF3IP3_ENST00000367023.1_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site|TRAF3IP3_ENST00000367025.3_Splice_Site|TRAF3IP3_ENST00000010338.4_Splice_Site			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral component of membrane (GO:0016021)		p.?(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAGCACACAGGTATGGGGATG	0.552																																																1	Unknown(1)	ovary(1)	1											89	94	92					1																	209948835		2203	4300	6503	208015458	SO:0001630	splice_region_variant	80342				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.915+1G>T	1.37:g.209948835G>T			208015458	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Splice_Site	SNP	ENST00000367024.1	37	CCDS1490.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.256316|2.256316	0.39896|0.39896	.|.	.|.	ENSG00000009790|ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431|ENST00000458110	.|.	.|.	.|.	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63271	.|0.2497	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61242	.|-0.7102	.|4	.|.	.|.	.|.	.|.	12.2935|12.2935	0.54831|0.54831	0.0831:0.0:0.9168:0.0|0.0831:0.0:0.9168:0.0	.|.	.|.	.|.	.|.	.|L	-1|289	.|.	.|.	.|V	+|+	.|1	.|0	TRAF3IP3|TRAF3IP3	208015458|208015458	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.619000|0.619000	0.37552|0.37552	6.032000|6.032000	0.70918|0.70918	1.124000|1.124000	0.41980|0.41980	0.563000|0.563000	0.77884|0.77884	.|GTA		0.552	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		Intron	T	209948835	G	T	209948835	5	4	39	1	0	0	0	0	0	0	1	0	16442	1275	44	3	946	3	TRAF3IP3	1	209948835	Splice_Site	SNP	G	TCGA-09-0369-01A-01W-0372-09	5832983	209948835	39301786	6	1914											
MYCN	4613	genome.wustl.edu	37	2	16085897	16085897	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr2:16085897C>T	ENST00000281043.3	+	3	1370	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	358					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P358L(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TCCCCACGTCCGCTCAAGAGT	0.597			A		neuroblastoma																																		Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	2	Substitution - Missense(2)	ovary(1)|skin(1)	2											45	44	44					2																	16085897		2203	4300	6503	16003348	SO:0001583	missense	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1073C>T	2.37:g.16085897C>T	ENSP00000281043:p.Pro358Leu		16003348	Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.280884	0.23392	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.16743	2.32	5.15	3.29	0.37713	Transcription regulator Myc, N-terminal (1);	0.874924	0.09504	U	0.793265	T	0.11410	0.0278	L	0.38175	1.15	0.58432	D	0.999998	B	0.29627	0.252	B	0.26614	0.071	T	0.09314	-1.0680	10	0.08381	T	0.77	-13.0989	6.2865	0.21037	0.1532:0.6979:0.0:0.1489	.	358	P04198	MYCN_HUMAN	L	358;276	ENSP00000281043:P358L	ENSP00000281043:P358L	P	+	2	0	MYCN	16003348	0.492000	0.26027	0.955000	0.39395	0.560000	0.35617	2.108000	0.41854	1.282000	0.44496	0.655000	0.94253	CCG		0.597	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		T	16085897	C	T	16085897	3	4	39	1	0	0	0	0	1	0	0	0	10021	652	23	1	1079	1	MYCN	2	16085897	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09		16085897	227113476	7	1915											
CAD	790	genome.wustl.edu	37	2	27454914	27454914	+	Missense_Mutation	SNP	G	G	C			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr2:27454914G>C	ENST00000403525.1	+	16	2422	c.2278G>C	c.(2278-2280)Gtg>Ctg	p.V760L	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Missense_Mutation_p.V823L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.V823L(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTTATTCAGTGGACCGCCT	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											104	91	96					2																	27454914		2203	4300	6503	27308418	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2278G>C	2.37:g.27454914G>C	ENSP00000384510:p.Val760Leu		27308418	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	G	13.57	2.275888	0.40294	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96856	-4.15;-4.15	5.2	3.25	0.37280	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.267026	0.37437	N	0.002084	D	0.92919	0.7747	L	0.52823	1.66	0.45867	D	0.998725	B;B	0.16802	0.019;0.002	B;B	0.23574	0.047;0.01	D	0.88373	0.2996	10	0.36615	T	0.2	-5.6672	5.0206	0.14360	0.3547:0.0:0.6453:0.0	.	760;823	F8VPD4;P27708	.;PYR1_HUMAN	L	823;760	ENSP00000264705:V823L;ENSP00000384510:V760L	ENSP00000264705:V823L	V	+	1	0	CAD	27308418	1.000000	0.71417	0.661000	0.29709	0.571000	0.35966	5.258000	0.65479	1.420000	0.47138	0.655000	0.94253	GTG		0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			C	27454914	G	C	27454914	3	2	39	1	0	0	0	0	1	0	0	0	2565	1029	36	3	2533	3	CAD	2	27454914	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	11369017	27454914	215744459	8	1916											
IL18RAP	8807	genome.wustl.edu	37	2	103057835	103057835	+	Missense_Mutation	SNP	T	T	A	rs200911053		TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr2:103057835T>A	ENST00000264260.2	+	7	1383	c.794T>A	c.(793-795)cTt>cAt	p.L265H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.L123H|AC007278.3_ENST00000450893.1_RNA	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	265	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L265H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GAAGTAGAACTTGGTAAGCTG	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											120	100	107					2																	103057835		2203	4300	6503	102424267	SO:0001583	missense	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.794T>A	2.37:g.103057835T>A	ENSP00000264260:p.Leu265His		102424267	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299466	0.60195	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.15603	2.41;2.41	5.07	5.07	0.68467	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110761	0.40640	N	0.001046	T	0.42585	0.1209	M	0.80746	2.51	0.44282	D	0.997147	D	0.89917	1.0	D	0.97110	1.0	T	0.42666	-0.9438	10	0.87932	D	0	.	11.2084	0.48784	0.0:0.0:0.0:1.0	.	265	O95256	I18RA_HUMAN	H	265;123	ENSP00000264260:L265H;ENSP00000387201:L123H	ENSP00000264260:L265H	L	+	2	0	IL18RAP	102424267	1.000000	0.71417	0.999000	0.59377	0.449000	0.32228	3.794000	0.55492	1.917000	0.55516	0.402000	0.26972	CTT		0.443	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		A	103057835	T	A	103057835	3	1	39	1	0	0	0	0	1	0	0	0	7648	1609	56	5	812	5	IL18RAP	2	103057835	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09	75602921	103057835	140141538	9	1917											
SCN9A	6335	genome.wustl.edu	37	2	167108389	167108389	+	Missense_Mutation	SNP	T	T	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr2:167108389T>A	ENST00000409435.1	-	17	3357	c.3358A>T	c.(3358-3360)Aac>Tac	p.N1120Y	SCN9A_ENST00000409672.1_Missense_Mutation_p.N1109Y|SCN9A_ENST00000303354.6_Missense_Mutation_p.N1121Y|SCN9A_ENST00000375387.4_Missense_Mutation_p.N1121Y|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1120					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.N1109Y(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTGACCGGTTTAATCTCTAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											70	64	66					2																	167108389		1875	4096	5971	166816635	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3358A>T	2.37:g.167108389T>A	ENSP00000386330:p.Asn1120Tyr		166816635	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317358	0.40996	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.82	4.61	0.57282	.	0.222293	0.21708	U	0.070305	D	0.86456	0.5937	M	0.81942	2.565	0.27840	N	0.941133	P	0.43412	0.806	P	0.46389	0.515	T	0.83322	-0.0017	10	0.72032	D	0.01	.	14.0375	0.64654	0.0:0.0:0.1338:0.8662	.	1109	E7EUN6	.	Y	1109;1121;1121;1120	ENSP00000386306:N1109Y;ENSP00000364536:N1121Y;ENSP00000304748:N1121Y;ENSP00000386330:N1120Y	ENSP00000304748:N1121Y	N	-	1	0	SCN9A	166816635	0.796000	0.28864	0.926000	0.36857	0.531000	0.34715	1.653000	0.37323	2.221000	0.72209	0.528000	0.53228	AAC		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		A	167108389	T	A	167108389	3	1	39	1	0	0	0	0	1	0	0	0	13928	1841	64	5	2648	5	SCN9A	2	167108389	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09	64050554	167108389	76090984	10	1918											
LRP2	4036	genome.wustl.edu	37	2	170129508	170129508	+	Missense_Mutation	SNP	T	T	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr2:170129508T>A	ENST00000263816.3	-	15	2330	c.2045A>T	c.(2044-2046)aAt>aTt	p.N682I	LRP2_ENST00000443831.1_Missense_Mutation_p.N613I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	682	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.N682I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CAAACCATCATTATCTGTTCT	0.478																																																1	Substitution - Missense(1)	ovary(1)	2											192	179	183					2																	170129508		2203	4300	6503	169837754	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2045A>T	2.37:g.170129508T>A	ENSP00000263816:p.Asn682Ile		169837754	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.901071	0.92035	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94723	-2.65;-3.5	5.5	5.5	0.81552	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.80982	2.52	0.31710	N	0.639659	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.97165	0.9840	10	0.49607	T	0.09	.	15.8976	0.79346	0.0:0.0:0.0:1.0	.	613;682	E9PC35;P98164	.;LRP2_HUMAN	I	682;613	ENSP00000263816:N682I;ENSP00000409813:N613I	ENSP00000263816:N682I	N	-	2	0	LRP2	169837754	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	6.202000	0.72131	2.212000	0.71576	0.528000	0.53228	AAT		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170129508	T	A	170129508	3	1	39	1	0	0	0	0	1	0	0	0	8956	1493	52	5	12182	5	LRP2	2	170129508	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09	3021119	170129508	73069865	11	1919											
TTN	7273	genome.wustl.edu	37	2	179495021	179495021	+	Missense_Mutation	SNP	C	C	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr2:179495021C>A	ENST00000591111.1	-	189	39529	c.39305G>T	c.(39304-39306)gGg>gTg	p.G13102V	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5803V|TTN_ENST00000460472.2_Missense_Mutation_p.G5678V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G14743V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G5870V|TTN_ENST00000342992.6_Missense_Mutation_p.G12175V			Q8WZ42	TITIN_HUMAN	titin	13102					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G5678V(1)|p.G12175V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAATCCACCCCACCCGTCTG	0.403																																																2	Substitution - Missense(2)	ovary(2)	2											81	86	84					2																	179495021		1859	4085	5944	179203266	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39305G>T	2.37:g.179495021C>A	ENSP00000465570:p.Gly13102Val		179203266	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.42	1.346394	0.24426	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	6.04	4.23	0.50019	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24812	0.0602	L	0.34521	1.04	0.58432	D	0.999998	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.10450	0.005;0.005;0.005;0.005	T	0.03863	-1.0997	9	0.87932	D	0	.	11.3144	0.49383	0.1275:0.8072:0.0:0.0653	.	5678;5803;5870;13102	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	12175;5678;5870;5803;5678	ENSP00000343764:G12175V;ENSP00000434586:G5678V;ENSP00000340554:G5870V;ENSP00000352154:G5803V	ENSP00000340554:G5870V	G	-	2	0	TTN	179203266	0.810000	0.29049	0.903000	0.35520	0.651000	0.38670	1.939000	0.40213	0.858000	0.35431	-0.251000	0.11542	GGG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179495021	C	A	179495021	3	1	39	1	0	0	0	0	1	0	0	0	16735	623	22	3	63961	3	TTN	2	179495021	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	9365513	179495021	63704352	12	1920											
ILKAP	80895	genome.wustl.edu	37	2	239092348	239092348	+	Silent	SNP	C	C	T	rs150186666		TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr2:239092348C>T	ENST00000254654.3	-	8	835	c.660G>A	c.(658-660)acG>acA	p.T220T		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	220	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.T220T(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CCAGAACACACGTGGCAGTGG	0.488													C|||	1	0.000199681	0	0	5008	,	,		20211	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2											62	57	59					2																	239092348		2203	4300	6503	238757087	SO:0001819	synonymous_variant	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.660G>A	2.37:g.239092348C>T			238757087	B3KM39	Silent	SNP	ENST00000254654.3	37	CCDS2526.1																																																																																				0.488	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		T	239092348	C	T	239092348	2	4	39	1	0	0	0	0	0	0	0	1	7714	523	19	1		1	ILKAP	2	239092348	Silent	SNP	C	TCGA-09-0369-01A-01W-0372-09	59597327	239092348	4107025	13	1921											
CELSR3	1951	genome.wustl.edu	37	3	48697823	48697823	+	Missense_Mutation	SNP	C	C	T	rs145148789		TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr3:48697823C>T	ENST00000164024.4	-	1	2525	c.2245G>A	c.(2245-2247)Gtt>Att	p.V749I	CELSR3_ENST00000544264.1_Missense_Mutation_p.V749I	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	749	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V749I(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGTCATTAACGTCCAGCACA	0.557																																																1	Substitution - Missense(1)	ovary(1)	3						C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	101	91	95		2245	5.8	1	3	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR3	NM_001407.2	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	749/3313	48697823	3,13003	2203	4300	6503	48672827	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2245G>A	3.37:g.48697823C>T	ENSP00000164024:p.Val749Ile		48672827	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.879079	0.72294	4.54E-4	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01258	5.09;5.09	5.82	5.82	0.92795	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.06690	0.0171	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.923	T	0.41680	-0.9495	9	0.41790	T	0.15	.	20.0852	0.97797	0.0:1.0:0.0:0.0	.	749;819	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	I	749	ENSP00000164024:V749I;ENSP00000445694:V749I	ENSP00000164024:V749I	V	-	1	0	CELSR3	48672827	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.080000	0.71299	2.756000	0.94617	0.561000	0.74099	GTT		0.557	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48697823	C	T	48697823	3	4	39	1	0	0	0	0	1	0	0	0	3223	536	19	1	7833	1	CELSR3	3	48697823	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09		48697823	149324607	14	1922											
GPR62	118442	genome.wustl.edu	37	3	51990611	51990611	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr3:51990611G>A	ENST00000322241.4	+	1	1282	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.A315T(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCTGTGCGGGCCTGCACTCC	0.701																																																1	Substitution - Missense(1)	ovary(1)	3											11	13	13					3																	51990611		2166	4240	6406	51965651	SO:0001583	missense	118442			AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"GPCR / Class A : Orphans"	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.943G>A	3.37:g.51990611G>A	ENSP00000319250:p.Ala315Thr		51965651	F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457745	0.43634	.	.	ENSG00000180929	ENST00000322241	T	0.03035	4.07	4.03	-4.15	0.03881	.	1.013190	0.07966	N	0.983182	T	0.02047	0.0064	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49273	-0.8957	10	0.10111	T	0.7	-8.9647	2.1897	0.03895	0.5007:0.1343:0.2288:0.1361	.	315	Q9BZJ7	GPR62_HUMAN	T	315	ENSP00000319250:A315T	ENSP00000319250:A315T	A	+	1	0	GPR62	51965651	0.000000	0.05858	0.022000	0.16811	0.464000	0.32679	-1.288000	0.02783	-0.624000	0.05611	0.561000	0.74099	GCC		0.701	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1			A	51990611	G	A	51990611	3	1	39	1	0	0	0	0	1	0	0	0	6703	1203	42	2	945	2	GPR62	3	51990611	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	3292788	51990611	146031819	15	1923											
MRAS	22808	genome.wustl.edu	37	3	138117370	138117370	+	Missense_Mutation	SNP	T	T	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr3:138117370T>G	ENST00000289104.4	+	4	1054	c.407T>G	c.(406-408)aTc>aGc	p.I136S	MRAS_ENST00000423968.2_Missense_Mutation_p.I136S|MRAS_ENST00000464896.1_Missense_Mutation_p.I60S|MRAS_ENST00000474559.1_Missense_Mutation_p.I136S	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	136					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.I136S(1)		kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTGAGGAAGATCACCAGGGAG	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											164	144	150					3																	138117370		2203	4300	6503	139600060	SO:0001583	missense	22808			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.407T>G	3.37:g.138117370T>G	ENSP00000289104:p.Ile136Ser		139600060	B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560734	0.65538	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.150607	0.64402	D	0.000012	T	0.80303	0.4598	M	0.78344	2.41	0.51767	D	0.999939	B	0.32653	0.379	B	0.32624	0.149	T	0.81996	-0.0676	10	0.87932	D	0	.	12.135	0.53966	0.0:0.0:0.0:1.0	.	136	O14807	RASM_HUMAN	S	136;136;60;60;136	ENSP00000289104:I136S;ENSP00000389682:I136S;ENSP00000417685:I60S;ENSP00000419582:I60S;ENSP00000418356:I136S	ENSP00000289104:I136S	I	+	2	0	MRAS	139600060	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	1.745000	0.51790	0.459000	0.35465	ATC		0.502	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			G	138117370	T	G	138117370	3	3	39	1	0	0	0	0	1	0	0	0	9755	1435	50	5	417	5	MRAS	3	138117370	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09	86126759	138117370	59905060	16	1924											
WHSC1	7468	genome.wustl.edu	37	4	1980538	1980538	+	Silent	SNP	A	A	C			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr4:1980538A>C	ENST00000382895.3	+	24	4431	c.4000A>C	c.(4000-4002)Aga>Cga	p.R1334R	WHSC1_ENST00000382891.5_Silent_p.R1334R|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.R682R|WHSC1_ENST00000508803.1_Silent_p.R1334R|WHSC1_ENST00000382892.2_Silent_p.R1334R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1334					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R1334R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGCATCGGTCAGAAGCACCAA	0.642			T	IGH@	MM																																		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	1	Substitution - coding silent(1)	ovary(1)	4											32	33	32					4																	1980538		2203	4300	6503	1950336	SO:0001819	synonymous_variant	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.4000A>C	4.37:g.1980538A>C			1950336	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	CCDS33940.1																																																																																				0.642	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		C	1980538	A	C	1980538	2	2	39	1	0	0	0	0	0	0	0	1	17362	180	7	5		5	WHSC1	4	1980538	Silent	SNP	A	TCGA-09-0369-01A-01W-0372-09		1980538	189173738	17	1925											
SLC2A9	56606	genome.wustl.edu	37	4	9909889	9909889	+	Silent	SNP	C	C	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr4:9909889C>A	ENST00000264784.3	-	8	1136	c.1083G>T	c.(1081-1083)ggG>ggT	p.G361G	SLC2A9_ENST00000309065.3_Silent_p.G332G|SLC2A9_ENST00000506583.1_Silent_p.G332G	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	361					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.G332G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCTCGATGCCCCCTGTACTCA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	4											141	122	129					4																	9909889		2203	4300	6503	9518987	SO:0001819	synonymous_variant	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1083G>T	4.37:g.9909889C>A			9518987	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	CCDS3407.1																																																																																				0.483	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			A	9909889	C	A	9909889	2	1	39	1	0	0	0	0	0	0	0	1	14555	610	22	3		3	SLC2A9	4	9909889	Silent	SNP	C	TCGA-09-0369-01A-01W-0372-09	7929351	9909889	181244387	18	1926											
CSN3	1448	genome.wustl.edu	37	4	71114806	71114806	+	Missense_Mutation	SNP	C	C	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr4:71114806C>A	ENST00000304954.3	+	4	265	c.179C>A	c.(178-180)aCc>aAc	p.T60N		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	195					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.T60N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TATTATGGAACCAATTTGTAC	0.388																																																1	Substitution - Missense(1)	ovary(1)	4											122	118	119					4																	71114806		2203	4300	6503	71149395	SO:0001583	missense	1448			U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"casein, kappa"	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.179C>A	4.37:g.71114806C>A	ENSP00000304822:p.Thr60Asn		71149395	B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393516	0.42410	.	.	ENSG00000171209	ENST00000304954	T	0.22945	1.93	4.38	2.58	0.30949	.	0.636024	0.14837	N	0.295482	T	0.14874	0.0359	N	0.22421	0.69	0.09310	N	1	B	0.31485	0.325	B	0.30251	0.113	T	0.18116	-1.0347	10	0.66056	D	0.02	-24.7422	4.5418	0.12061	0.2181:0.6651:0.0:0.1168	.	60	P07498	CASK_HUMAN	N	60	ENSP00000304822:T60N	ENSP00000304822:T60N	T	+	2	0	CSN3	71149395	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.555000	0.05999	0.744000	0.32741	0.557000	0.71058	ACC		0.388	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		A	71114806	C	A	71114806	3	1	39	1	0	0	0	0	1	0	0	0	3949	507	18	3	189	3	CSN3	4	71114806	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	61204917	71114806	120039470	19	1927											
CLGN	1047	genome.wustl.edu	37	4	141321660	141321660	+	Missense_Mutation	SNP	G	G	C			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr4:141321660G>C	ENST00000325617.5	-	7	985	c.545C>G	c.(544-546)cCa>cGa	p.P182R	CLGN_ENST00000537281.1_Missense_Mutation_p.P182R|CLGN_ENST00000414773.1_Missense_Mutation_p.P182R	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	182					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.P182R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACATTTATCTGGTCCAAACAT	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											78	82	81					4																	141321660		2203	4298	6501	141541110	SO:0001583	missense	1047			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.545C>G	4.37:g.141321660G>C	ENSP00000326699:p.Pro182Arg		141541110	B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736952	0.89482	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.62498	0.02;0.02;0.02	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, conserved site (1);	0.047867	0.85682	D	0.000000	D	0.86539	0.5957	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90504	0.4476	10	0.87932	D	0	-12.8213	19.4559	0.94889	0.0:0.0:1.0:0.0	.	182	O14967	CLGN_HUMAN	R	182;182;182;99	ENSP00000326699:P182R;ENSP00000392782:P182R;ENSP00000439381:P182R	ENSP00000326699:P182R	P	-	2	0	CLGN	141541110	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.669000	0.90835	0.591000	0.81541	CCA		0.333	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		C	141321660	G	C	141321660	3	2	39	1	0	0	0	0	1	0	0	0	3524	1348	47	3	1323	3	CLGN	4	141321660	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	70206854	141321660	49832616	20	1928											
CDH10	1008	genome.wustl.edu	37	5	24488057	24488057	+	Silent	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr5:24488057C>T	ENST00000264463.4	-	12	2589	c.2082G>A	c.(2080-2082)acG>acA	p.T694T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	694					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T694T(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAATAAATAACGTTTCTGGAA	0.498										HNSCC(23;0.051)																																						1	Substitution - coding silent(1)	ovary(1)	5											70	76	74					5																	24488057		2203	4300	6503	24523814	SO:0001819	synonymous_variant	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2082G>A	5.37:g.24488057C>T			24523814	Q9ULB3	Silent	SNP	ENST00000264463.4	37	CCDS3892.1																																																																																				0.498	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		T	24488057	C	T	24488057	2	4	39	1	0	0	0	0	0	0	0	1	3096	523	19	1		1	CDH10	5	24488057	Silent	SNP	C	TCGA-09-0369-01A-01W-0372-09		24488057	156427203	21	1929											
PDZD2	23037	genome.wustl.edu	37	5	32048781	32048781	+	Missense_Mutation	SNP	T	T	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr5:32048781T>G	ENST00000438447.1	+	8	2044	c.1656T>G	c.(1654-1656)agT>agG	p.S552R	PDZD2_ENST00000282493.3_Missense_Mutation_p.S552R			O15018	PDZD2_HUMAN	PDZ domain containing 2	552					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S552R(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						ACTCTTCCAGTGCCTCACAGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	5											56	63	61					5																	32048781		2203	4300	6503	32084538	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.1656T>G	5.37:g.32048781T>G	ENSP00000402033:p.Ser552Arg		32084538	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482296	0.44147	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.06142	3.34;3.34	5.41	-10.7	0.00240	.	0.822435	0.10293	N	0.692048	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B;B	0.25809	0.135;0.001	B;B	0.25140	0.058;0.002	T	0.42310	-0.9459	10	0.62326	D	0.03	.	2.7062	0.05163	0.1969:0.1753:0.4405:0.1873	.	378;552	B4E3P2;O15018	.;PDZD2_HUMAN	R	552	ENSP00000402033:S552R;ENSP00000282493:S552R	ENSP00000282493:S552R	S	+	3	2	PDZD2	32084538	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.265000	0.08644	-1.872000	0.01136	-0.438000	0.05819	AGT		0.582	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			G	32048781	T	G	32048781	3	3	39	1	0	0	0	0	1	0	0	0	11701	1693	59	5	1682	5	PDZD2	5	32048781	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09	7560724	32048781	148866479	22	1930											
PCDHA2	56146	genome.wustl.edu	37	5	140176419	140176419	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr5:140176419G>A	ENST00000526136.1	+	1	1870	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V624M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V624M|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	624	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V624M(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGTTCCGCGTGGGGCTATA	0.642																																																1	Substitution - Missense(1)	ovary(1)	5											107	103	104					5																	140176419		2203	4300	6503	140156603	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1870G>A	5.37:g.140176419G>A	ENSP00000431748:p.Val624Met		140156603	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	9.918	1.211258	0.22289	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.59502	0.26;0.26;0.26	3.91	3.01	0.34805	Cadherin (4);Cadherin-like (1);	0.277827	0.19309	U	0.117456	T	0.72590	0.3479	M	0.80746	2.51	0.25662	N	0.985997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.98;0.989;0.98	T	0.60984	-0.7154	10	0.87932	D	0	.	7.9432	0.29971	0.1881:0.0:0.8119:0.0	.	624;624;624	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	624	ENSP00000430584:V624M;ENSP00000367372:V624M;ENSP00000431748:V624M	ENSP00000367372:V624M	V	+	1	0	PCDHA2	140156603	0.038000	0.19896	1.000000	0.80357	0.157000	0.22087	0.214000	0.17541	1.917000	0.55516	0.549000	0.68633	GTG		0.642	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140176419	G	A	140176419	3	1	39	1	0	0	0	0	1	0	0	0	11524	1145	40	1	1872	1	PCDHA2	5	140176419	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	108127638	140176419	40738841	23	1931											
PCDHB11	56125	genome.wustl.edu	37	5	140580437	140580437	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr5:140580437G>A	ENST00000354757.3	+	1	1090	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V364M(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAGAGACCGTGGTTATGGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											112	111	111					5																	140580437		2203	4300	6503	140560621	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1090G>A	5.37:g.140580437G>A	ENSP00000346802:p.Val364Met		140560621	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894510	0.52121	.	.	ENSG00000197479	ENST00000354757;ENST00000536825	T	0.52295	0.67	2.52	0.519	0.17035	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.62307	0.2417	M	0.85197	2.74	0.35148	D	0.769504	D	0.56968	0.978	P	0.57720	0.826	T	0.69355	-0.5167	9	0.66056	D	0.02	.	8.2233	0.31554	0.2185:0.0:0.7815:0.0	.	364	Q9Y5F2	PCDBB_HUMAN	M	364;54	ENSP00000346802:V364M	ENSP00000346802:V364M	V	+	1	0	PCDHB11	140560621	0.010000	0.17322	0.001000	0.08648	0.438000	0.31896	1.630000	0.37081	-0.027000	0.13873	0.306000	0.20318	GTG		0.408	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		A	140580437	G	A	140580437	3	1	39	1	0	0	0	0	1	0	0	0	11536	1145	40	1	1092	1	PCDHB11	5	140580437	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	404018	140580437	40334823	24	1932											
AIM1	202	genome.wustl.edu	37	6	106968144	106968144	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr6:106968144C>T	ENST00000369066.3	+	2	2324	c.1837C>T	c.(1837-1839)Ctc>Ttc	p.L613F		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L613F(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACAGCAGAGCTCGCGGCAAA	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											72	75	74					6																	106968144		2203	4300	6503	107074837	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1837C>T	6.37:g.106968144C>T	ENSP00000358062:p.Leu613Phe		107074837	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968434	0.34754	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71461	-0.57	5.44	4.55	0.56014	.	1.270490	0.05510	N	0.560086	T	0.43122	0.1233	N	0.22421	0.69	0.29576	N	0.849566	B	0.24483	0.104	B	0.20955	0.032	T	0.38023	-0.9680	10	0.56958	D	0.05	.	11.914	0.52755	0.0:0.8254:0.1746:0.0	.	613	Q9Y4K1	AIM1_HUMAN	F	1021;613	ENSP00000358062:L613F	ENSP00000285105:L1021F	L	+	1	0	AIM1	107074837	0.344000	0.24827	0.014000	0.15608	0.001000	0.01503	2.032000	0.41127	1.492000	0.48499	0.655000	0.94253	CTC		0.512	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968144	C	T	106968144	3	4	39	1	0	0	0	0	1	0	0	0	430	797	28	2	1843	2	AIM1	6	106968144	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09		106968144	64146923	25	1933											
GJA1	2697	genome.wustl.edu	37	6	121768858	121768858	+	Missense_Mutation	SNP	G	G	C			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr6:121768858G>C	ENST00000282561.3	+	2	1022	c.865G>C	c.(865-867)Gtt>Ctt	p.V289L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	289					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.V289L(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GTACAAGCTGGTTACTGGCGA	0.483																																																1	Substitution - Missense(1)	ovary(1)	6											68	70	69					6																	121768858		2203	4300	6503	121810557	SO:0001583	missense	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.865G>C	6.37:g.121768858G>C	ENSP00000282561:p.Val289Leu		121810557	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	5.964	0.361846	0.11296	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.81821	-1.54	5.18	4.31	0.51392	.	0.224369	0.36303	N	0.002674	T	0.48295	0.1492	N	0.19112	0.55	0.41875	D	0.990291	B	0.09022	0.002	B	0.10450	0.005	T	0.48293	-0.9048	10	0.08381	T	0.77	.	13.6859	0.62515	0.0739:0.0:0.9261:0.0	.	289	P17302	CXA1_HUMAN	L	273;289	ENSP00000282561:V289L	ENSP00000282561:V289L	V	+	1	0	GJA1	121810557	1.000000	0.71417	0.989000	0.46669	0.470000	0.32858	7.383000	0.79741	1.415000	0.47037	0.585000	0.79938	GTT		0.483	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		C	121768858	G	C	121768858	3	2	39	1	0	0	0	0	1	0	0	0	6400	1261	44	3	867	3	GJA1	6	121768858	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	14800714	121768858	49346209	26	1934											
GNA12	2768	genome.wustl.edu	37	7	2771257	2771257	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr7:2771257C>T	ENST00000275364.3	-	4	866	c.704G>A	c.(703-705)cGc>cAc	p.R235H	AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Missense_Mutation_p.R159H|GNA12_ENST00000544127.1_Missense_Mutation_p.R142H|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000396960.3_Missense_Mutation_p.R87H|GNA12_ENST00000407904.3_Missense_Mutation_p.R176H	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	235					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R235H(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CCACTTCTGGCGCTGGGACCG	0.567																																																1	Substitution - Missense(1)	ovary(1)	7											97	89	92					7																	2771257		2203	4300	6503	2737783	SO:0001583	missense	2768			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.704G>A	7.37:g.2771257C>T	ENSP00000275364:p.Arg235His		2737783	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787652	0.70337	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	6.17	2.48	0.30137	.	0.097705	0.64402	N	0.000002	D	0.96454	0.8843	H	0.95187	3.635	0.80722	D	1	B;D;B	0.76494	0.35;0.999;0.096	B;D;B	0.63957	0.023;0.92;0.027	D	0.95594	0.8657	10	0.87932	D	0	.	10.8296	0.46652	0.0:0.7507:0.0:0.2493	.	235;235;176	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	H	235;176;159;87;142	ENSP00000275364:R235H;ENSP00000385935:R176H;ENSP00000386054:R159H;ENSP00000380160:R87H;ENSP00000437469:R142H	ENSP00000275364:R235H	R	-	2	0	GNA12	2737783	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	7.720000	0.84759	0.201000	0.20466	-0.136000	0.14681	CGC		0.567	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		T	2771257	C	T	2771257	3	4	39	1	0	0	0	0	1	0	0	0	6500	768	27	1	445	1	GNA12	7	2771257	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09		2771257	156367406	27	1935											
TRA2A	29896	genome.wustl.edu	37	7	23561393	23561393	+	Missense_Mutation	SNP	C	C	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr7:23561393C>G	ENST00000297071.4	-	2	319	c.103G>C	c.(103-105)Gga>Cga	p.G35R	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	35	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G35R(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CTACGAGATCCTGACCTGCTC	0.418																																					Pancreas(121;2137 2973 46590)											1	Substitution - Missense(1)	ovary(1)	7											114	109	110					7																	23561393		2203	4300	6503	23527918	SO:0001583	missense	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.103G>C	7.37:g.23561393C>G	ENSP00000297071:p.Gly35Arg		23527918	B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537622	0.27475	.	.	ENSG00000164548	ENST00000297071	T	0.14022	2.54	5.95	5.07	0.68467	.	0.103264	0.64402	D	0.000003	T	0.05640	0.0148	N	0.02916	-0.46	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36114	-0.9761	10	0.15499	T	0.54	-8.6897	11.0262	0.47746	0.0:0.8592:0.0:0.1408	.	35	Q13595	TRA2A_HUMAN	R	35	ENSP00000297071:G35R	ENSP00000297071:G35R	G	-	1	0	TRA2A	23527918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.787000	0.55439	1.537000	0.49254	0.585000	0.79938	GGA		0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		G	23561393	C	G	23561393	3	3	39	1	0	0	0	0	1	0	0	0	16433	690	24	3	773	3	TRA2A	7	23561393	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	20790136	23561393	135577270	28	1936											
TXNDC3	51314	genome.wustl.edu	37	7	37907476	37907476	+	Missense_Mutation	SNP	G	G	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr7:37907476G>T	ENST00000199447.4	+	11	1166	c.794G>T	c.(793-795)gGa>gTa	p.G265V	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.G265V	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	265					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.G265V(1)									GTTACACCTGGAATGATGAAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	7											82	67	72					7																	37907476		2203	4300	6503	37874001	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.794G>T	7.37:g.37907476G>T	ENSP00000199447:p.Gly265Val		37874001	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	2.841	-0.240549	0.05944	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.35421	1.31;1.31	4.21	-2.24	0.06909	.	4.923680	0.00567	N	0.000295	T	0.16385	0.0394	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.08868	-1.0701	10	0.12430	T	0.62	5.2241	3.295	0.06963	0.2272:0.2303:0.4453:0.0972	.	265	Q8N427	TXND3_HUMAN	V	265	ENSP00000199447:G265V;ENSP00000397063:G265V	ENSP00000199447:G265V	G	+	2	0	TXNDC3	37874001	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.326000	0.00252	-0.455000	0.07054	-0.253000	0.11424	GGA		0.458	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		T	37907476	G	T	37907476	3	4	39	1	0	0	0	0	1	0	0	0	16798	1174	41	3	828	3	TXNDC3	7	37907476	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	14346083	37907476	121231187	29	1937											
SUMF2	5260	genome.wustl.edu	37	7	56147289	56147289	+	IGR	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr7:56147289C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000413756.1_Silent_p.A336A|SUMF2_ENST00000434526.2_Missense_Mutation_p.P316L|SUMF2_ENST00000437307.2_Missense_Mutation_p.P228L|SUMF2_ENST00000395435.2_Missense_Mutation_p.P232L|SUMF2_ENST00000395436.2_Missense_Mutation_p.P301L|SUMF2_ENST00000342190.6_Missense_Mutation_p.R268C|SUMF2_ENST00000275607.9_Missense_Mutation_p.P209L	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)	p.P297L(1)		endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCAGGCCGGCCGCCAGGGGAG	0.587											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(184;580 2064 5329 24177 35303)											1	Substitution - Missense(1)	ovary(1)	7											84	88	87					7																	56147289		2203	4300	6503	56114783	SO:0001628	intergenic_variant	25870			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56147289C>T		1013	56114783	B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	CCDS5525.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.952|6.952	0.545499|0.545499	0.13312|0.13312	.|.	.|.	ENSG00000129103|ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000395435;ENST00000437307|ENST00000342190	D;D;D;D;D|D	0.97665|0.91631	-3.53;-3.55;-4.48;-2.91;-3.05|-2.88	4.47|4.47	-2.39|-2.39	0.06602|0.06602	.|.	.|0.954894	.|0.08770	.|N	.|0.896477	T|T	0.82222|0.82222	0.4990|0.4990	N|N	0.05383|0.05383	-0.06|-0.06	0.09310|0.09310	N|N	1|1	B;B;B;B|B;B	0.16396|0.09022	0.009;0.007;0.017;0.004|0.0;0.002	B;B;B;B|B;B	0.09377|0.04013	0.004;0.002;0.003;0.001|0.0;0.001	T|T	0.65590|0.65590	-0.6131|-0.6131	9|10	0.39692|0.56958	T|D	0.17|0.05	-21.1102|-21.1102	11.2584|11.2584	0.49067|0.49067	0.0:0.5238:0.0:0.4762|0.0:0.5238:0.0:0.4762	.|.	213;301;319;297|231;268	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7|Q8NBJ7-4;F8WA42	.;.;.;SUMF2_HUMAN|.;.	L|C	301;316;209;232;228|268	ENSP00000378824:P301L;ENSP00000400922:P316L;ENSP00000275607:P209L;ENSP00000378823:P232L;ENSP00000415989:P228L|ENSP00000341938:R268C	ENSP00000275607:P209L|ENSP00000341938:R268C	P|R	+|+	2|1	0|0	SUMF2|SUMF2	56114783|56114783	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.228000|-0.228000	0.09114|0.09114	-1.019000|-1.019000	0.03358|0.03358	-1.598000|-1.598000	0.00824|0.00824	CCG|CGC		0.587	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		T	56147289	C	T	56147289	1	4	39	0	1	0	0	0	0	0	0	0	15386	652	23	1		1	SUMF2	7	56147289	IGR	SNP	C	TCGA-09-0369-01A-01W-0372-09	18239813	56147289	102991374	30	1938											
GTF2IRD1	9569	genome.wustl.edu	37	7	73944096	73944096	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr7:73944096G>A	ENST00000265755.3	+	9	1516	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.V375M|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.V407M|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.V375M	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	375					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V375M(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATGGTCCCCGTGCCCTACCG	0.612																																																1	Substitution - Missense(1)	ovary(1)	7											68	57	61					7																	73944096		2203	4300	6503	73582032	SO:0001583	missense	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1123G>A	7.37:g.73944096G>A	ENSP00000265755:p.Val375Met		73582032	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.704554	0.88924	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;P;D;D	0.91635	0.999;0.904;0.985;0.944	T	0.77183	-0.2681	10	0.59425	D	0.04	-30.5453	16.4644	0.84074	0.0:0.0:1.0:0.0	.	407;375;375;375	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	M	375;407;375;375	ENSP00000265755:V375M;ENSP00000397566:V407M;ENSP00000408477:V375M;ENSP00000418383:V375M	ENSP00000265755:V375M	V	+	1	0	GTF2IRD1	73582032	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	9.080000	0.94040	2.214000	0.71695	0.457000	0.33378	GTG		0.612	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		A	73944096	G	A	73944096	3	1	39	1	0	0	0	0	1	0	0	0	6868	1145	40	1	1153	1	GTF2IRD1	7	73944096	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	17796807	73944096	85194567	31	1939											
LAMB4	22798	genome.wustl.edu	37	7	107678032	107678032	+	Missense_Mutation	SNP	C	C	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr7:107678032C>G	ENST00000388781.3	-	30	4563	c.4480G>C	c.(4480-4482)Gtg>Ctg	p.V1494L	LAMB4_ENST00000388780.3_Missense_Mutation_p.V1494L|LAMB4_ENST00000483484.1_5'Flank|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000205386.4_Missense_Mutation_p.V1494L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1494	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.V1494L(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTGGAGGCACGTTTTCCTCT	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											158	146	150					7																	107678032		2203	4300	6503	107465268	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4480G>C	7.37:g.107678032C>G	ENSP00000373433:p.Val1494Leu		107465268	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125711	0.56721	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.31247	1.5;1.5;1.91;1.52	4.85	0.915	0.19366	.	0.000000	0.43416	D	0.000565	T	0.25901	0.0631	L	0.38175	1.15	0.31362	N	0.681273	P;D	0.58620	0.874;0.983	P;P	0.49451	0.611;0.59	T	0.27571	-1.0070	10	0.72032	D	0.01	.	4.6157	0.12424	0.1524:0.5946:0.0:0.2529	.	1494;1494	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	L	1494;1494;520;1494	ENSP00000205386:V1494L;ENSP00000373433:V1494L;ENSP00000416562:V520L;ENSP00000373432:V1494L	ENSP00000205386:V1494L	V	-	1	0	LAMB4	107465268	0.019000	0.18553	0.338000	0.25549	0.959000	0.62525	0.304000	0.19228	0.054000	0.16065	0.655000	0.94253	GTG		0.393	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		G	107678032	C	G	107678032	3	3	39	1	0	0	0	0	1	0	0	0	8613	536	19	3	825	3	LAMB4	7	107678032	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	33733936	107678032	51460631	32	1940											
FEZF1	389549	genome.wustl.edu	37	7	121943817	121943817	+	Missense_Mutation	SNP	C	C	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr7:121943817C>G	ENST00000442488.2	-	1	742	c.675G>C	c.(673-675)caG>caC	p.Q225H	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.Q225H|FEZF1_ENST00000427185.2_Missense_Mutation_p.Q175H	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	225					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.Q225H(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AATGCTGCAGCTGAGCCTGGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	7											75	82	80					7																	121943817		2203	4300	6503	121731053	SO:0001583	missense	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.675G>C	7.37:g.121943817C>G	ENSP00000411145:p.Gln225His		121731053	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000429	0.35320	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07908	3.15;3.31;3.19	5.24	3.43	0.39272	.	0.108661	0.64402	D	0.000004	T	0.04998	0.0134	N	0.14661	0.345	0.37315	D	0.909306	B;B	0.21225	0.014;0.053	B;B	0.20955	0.007;0.032	T	0.38929	-0.9638	10	0.34782	T	0.22	-23.6628	8.15	0.31134	0.0:0.725:0.1304:0.1446	.	225;175	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	H	225;225;175	ENSP00000411145:Q225H;ENSP00000332777:Q225H;ENSP00000392727:Q175H	ENSP00000332777:Q225H	Q	-	3	2	FEZF1	121731053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.756000	0.47549	0.697000	0.31718	0.555000	0.69702	CAG		0.507	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		G	121943817	C	G	121943817	3	3	39	1	0	0	0	0	1	0	0	0	5825	796	28	3	768	3	FEZF1	7	121943817	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	14265785	121943817	37194846	33	1941											
DLGAP2	9228	genome.wustl.edu	37	8	1497660	1497660	+	Silent	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr8:1497660C>T	ENST00000421627.2	+	2	935	c.801C>T	c.(799-801)aaC>aaT	p.N267N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	346					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.N289N(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGAGCAACAACGACGTCAAGT	0.667																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	8											45	51	49					8																	1497660		2136	4263	6399	1485067	SO:0001819	synonymous_variant	9228			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.801C>T	8.37:g.1497660C>T			1485067	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	0.814	-0.750892	0.03041	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.3	-9.22	0.00675	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73799	-0.3869	4	.	.	.	-13.3365	18.7685	0.91882	0.0:0.1862:0.0:0.8138	.	.	.	.	M	284	.	.	T	+	2	0	DLGAP2	1485067	0.194000	0.23325	0.001000	0.08648	0.243000	0.25628	-0.319000	0.08039	-2.151000	0.00795	-1.623000	0.00790	ACG		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		T	1497660	C	T	1497660	2	4	39	1	0	0	0	0	0	0	0	1	4560	535	19	1		1	DLGAP2	8	1497660	Silent	SNP	C	TCGA-09-0369-01A-01W-0372-09		1497660	144866362	34	1942											
CSMD1	64478	genome.wustl.edu	37	8	2820044	2820044	+	Missense_Mutation	SNP	G	G	C			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr8:2820044G>C	ENST00000520002.1	-	62	10130	c.9575C>G	c.(9574-9576)tCc>tGc	p.S3192C	CSMD1_ENST00000537824.1_Missense_Mutation_p.S3191C|CSMD1_ENST00000602723.1_Missense_Mutation_p.S3015C|CSMD1_ENST00000400186.3_Missense_Mutation_p.S3015C|CSMD1_ENST00000542608.1_Missense_Mutation_p.S3014C|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3192C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3192	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S2920C(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)		GACTCTTCTGGAGGATCCCAC	0.502																																																1	Substitution - Missense(1)	ovary(1)	8											64	63	64					8																	2820044		1926	4128	6054	2807451	SO:0001583	missense	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.9575C>G	8.37:g.2820044G>C	ENSP00000430733:p.Ser3192Cys		2807451	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	14.44	2.535769	0.45176	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (3);	0.303473	0.27437	N	0.019367	D	0.89339	0.6687	H	0.97983	4.12	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.98	D;D;P	0.78314	0.991;0.926;0.879	D	0.92813	0.6266	10	0.72032	D	0.01	.	19.6087	0.95589	0.0:0.0:1.0:0.0	.	3192;3192;3014	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	C	3015;3192;3053;3191;3014	ENSP00000383047:S3015C;ENSP00000430733:S3192C;ENSP00000441462:S3191C;ENSP00000446243:S3014C	ENSP00000320445:S3053C	S	-	2	0	CSMD1	2807451	1.000000	0.71417	0.011000	0.14972	0.083000	0.17756	7.744000	0.85034	2.639000	0.89480	0.655000	0.94253	TCC		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		C	2820044	G	C	2820044	3	2	39	1	0	0	0	0	1	0	0	0	3944	1174	41	3	1162	3	CSMD1	8	2820044	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	1322384	2820044	143543978	35	1943											
E2F5	1875	genome.wustl.edu	37	8	86125997	86125997	+	Missense_Mutation	SNP	T	T	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	A	T	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr8:86125997T>A	ENST00000416274.2	+	8	975	c.941T>A	c.(940-942)cTc>cAc	p.L314H	E2F5_ENST00000256117.5_Missense_Mutation_p.L315H|E2F5_ENST00000521429.1_Missense_Mutation_p.L141H|E2F5_ENST00000418930.2_Missense_Mutation_p.L313H|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Missense_Mutation_p.L153H	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	314	Transactivation. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L314H(1)		NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTGTTTCCTCTCTTAAGGCTT	0.333																																																1	Substitution - Missense(1)	ovary(1)	8											128	115	119					8																	86125997		1830	4091	5921	86313249	SO:0001583	missense	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.941T>A	8.37:g.86125997T>A	ENSP00000398124:p.Leu314His		86313249	E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628508	0.67015	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.43	4.26	0.50523	.	0.134314	0.48286	D	0.000191	D	0.90549	0.7038	M	0.72894	2.215	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.977;0.995;0.98	D	0.91180	0.4975	10	0.72032	D	0.01	-11.3872	11.5324	0.50618	0.0:0.0717:0.0:0.9283	.	141;313;314	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	H	313;315;314;153;141;150	ENSP00000414312:L313H;ENSP00000256117:L315H;ENSP00000398124:L314H;ENSP00000429120:L153H;ENSP00000428606:L141H;ENSP00000429669:L150H	ENSP00000256117:L315H	L	+	2	0	E2F5	86313249	1.000000	0.71417	0.904000	0.35570	0.984000	0.73092	2.760000	0.47581	2.063000	0.61619	0.533000	0.62120	CTC		0.333	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		A	86125997	T	A	86125997	3	1	39	1	0	0	0	0	1	0	0	0	4870	1551	54	5	971	5	E2F5	8	86125997	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09	83305953	86125997	60238025	36	1944											
LAMC3	10319	genome.wustl.edu	37	9	133942439	133942439	+	Missense_Mutation	SNP	G	G	A	rs529385350		TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr9:133942439G>A	ENST00000361069.4	+	14	2573	c.2440G>A	c.(2440-2442)Ggg>Agg	p.G814R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	814	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.G814R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAGTGTAGCGGGAACGTGGA	0.642																																																1	Substitution - Missense(1)	ovary(1)	9											65	56	59					9																	133942439		2203	4300	6503	132932260	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2440G>A	9.37:g.133942439G>A	ENSP00000354360:p.Gly814Arg		132932260	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684891	0.47991	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.66995	-0.24	4.8	3.89	0.44902	EGF-like, laminin (3);	0.299825	0.35903	N	0.002908	T	0.76478	0.3993	H	0.95816	3.725	0.52501	D	0.999959	P	0.37525	0.598	B	0.41135	0.348	T	0.78881	-0.2029	10	0.54805	T	0.06	.	9.275	0.37694	0.168:0.0:0.832:0.0	.	814	Q9Y6N6	LAMC3_HUMAN	R	814	ENSP00000354360:G814R	ENSP00000347156:G814R	G	+	1	0	LAMC3	132932260	1.000000	0.71417	0.694000	0.30210	0.378000	0.30076	4.898000	0.63238	1.128000	0.42052	0.650000	0.86243	GGG		0.642	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133942439	G	A	133942439	3	1	39	1	0	0	0	0	1	0	0	0	8616	1116	39	1	2494	1	LAMC3	9	133942439	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09		133942439	7270992	37	1945											
VAV2	7410	genome.wustl.edu	37	9	136726544	136726544	+	Missense_Mutation	SNP	G	G	A	rs199806132	byFrequency	TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr9:136726544G>A	ENST00000371850.3	-	3	363	c.332C>T	c.(331-333)gCg>gTg	p.A111V	VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Missense_Mutation_p.A111V|VAV2_ENST00000371851.1_Missense_Mutation_p.A111V	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	111	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A111V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCTCGACACCGCGGAGATGAC	0.577													G|||	2	0.000399361	0	0.0014	5008	,	,		17459	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9											66	62	63					9																	136726544		2203	4300	6503	135716365	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.332C>T	9.37:g.136726544G>A	ENSP00000360916:p.Ala111Val		135716365	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.65	1.700816	0.30142	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.43688	0.94;0.94;0.94	4.82	3.91	0.45181	Calponin homology domain (5);	0.000000	0.64402	D	0.000002	T	0.31638	0.0803	L	0.27053	0.805	0.20074	N	0.999932	P;P	0.48764	0.915;0.891	B;B	0.43508	0.222;0.422	T	0.11966	-1.0566	10	0.52906	T	0.07	.	10.6621	0.45708	0.0:0.0:0.8081:0.1919	.	111;111	P52735;P52735-3	VAV2_HUMAN;.	V	111	ENSP00000360916:A111V;ENSP00000360917:A111V;ENSP00000385362:A111V	ENSP00000317258:A111V	A	-	2	0	VAV2	135716365	0.973000	0.33851	0.231000	0.23993	0.206000	0.24218	5.681000	0.68175	1.136000	0.42199	0.655000	0.94253	GCG		0.577	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			A	136726544	G	A	136726544	3	1	39	1	0	0	0	0	1	0	0	0	17132	1087	38	1	2416	1	VAV2	9	136726544	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09	2784105	136726544	4486887	38	1946											
TRAF2	7186	genome.wustl.edu	37	9	139814809	139814809	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr9:139814809C>T	ENST00000247668.2	+	8	854	c.802C>T	c.(802-804)Ctc>Ttc	p.L268F	TRAF2_ENST00000359662.3_Missense_Mutation_p.L320F|TRAF2_ENST00000536468.1_Missense_Mutation_p.L268F	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	268				Missing (in Ref. 2; BAB70792). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L268F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GGGGTCAGAGCTCCTGCAGAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	9											67	67	67					9																	139814809		2202	4300	6502	138934630	SO:0001583	missense	7186			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.802C>T	9.37:g.139814809C>T	ENSP00000247668:p.Leu268Phe		138934630	A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276784	0.23307	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662	T;T;T	0.39056	1.37;1.37;1.1	4.37	4.37	0.52481	.	0.257811	0.33327	N	0.005040	T	0.52693	0.1750	M	0.79926	2.475	0.30121	N	0.805673	P;P;B	0.36048	0.534;0.534;0.399	P;P;B	0.44732	0.459;0.459;0.27	T	0.59484	-0.7446	10	0.52906	T	0.07	-36.1552	11.3326	0.49485	0.1816:0.8184:0.0:0.0	.	257;243;268	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	F	268;267;268;320	ENSP00000446414:L268F;ENSP00000247668:L268F;ENSP00000352685:L320F	ENSP00000247668:L268F	L	+	1	0	TRAF2	138934630	1.000000	0.71417	0.117000	0.21633	0.191000	0.23601	1.366000	0.34193	2.246000	0.74042	0.462000	0.41574	CTC		0.632	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		T	139814809	C	T	139814809	3	4	39	1	0	0	0	0	1	0	0	0	16438	797	28	2	828	2	TRAF2	9	139814809	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	3088265	139814809	1398622	39	1947											
ADAMTS14	140766	genome.wustl.edu	37	10	72492028	72492028	+	Missense_Mutation	SNP	G	G	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr10:72492028G>A	ENST00000373207.1	+	7	1121	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.G377D	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	374	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G377D(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCCGTCACTGGCATGTGTCAC	0.597																																																1	Substitution - Missense(1)	ovary(1)	10											107	81	90					10																	72492028		2203	4300	6503	72162034	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1121G>A	10.37:g.72492028G>A	ENSP00000362303:p.Gly374Asp		72162034	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856799	0.91433	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.88818	-2.43;-2.43	4.68	4.68	0.58851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	H	0.94925	3.6	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97172	0.9845	10	0.87932	D	0	.	17.7715	0.88494	0.0:0.0:1.0:0.0	.	374;377	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	D	377;374	ENSP00000362304:G377D;ENSP00000362303:G374D	ENSP00000362303:G374D	G	+	2	0	ADAMTS14	72162034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.606000	0.88127	0.655000	0.94253	GGC		0.597	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		A	72492028	G	A	72492028	3	1	39	1	0	0	0	0	1	0	0	0	259	1203	42	2	1156	2	ADAMTS14	10	72492028	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09		72492028	63042719	40	1948											
ATG2A	23130	genome.wustl.edu	37	11	64679721	64679721	+	Splice_Site	SNP	T	T	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr11:64679721T>A	ENST00000377264.3	-	8	1035	c.923A>T	c.(922-924)gAc>gTc	p.D308V	ATG2A_ENST00000421419.2_Splice_Site_p.D308V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	308					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.D308V(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCCCTCGTGGTCTGCAGGGGA	0.667																																																1	Substitution - Missense(1)	ovary(1)	11											48	53	51					11																	64679721		2201	4297	6498	64436297	SO:0001630	splice_region_variant	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.923-1A>T	11.37:g.64679721T>A			64436297	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.13|12.13	1.845916|1.845916	0.32606|0.32606	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459|ENST00000418259	T;T|.	0.08370|.	3.1;3.1|.	3.97|3.97	2.79|2.79	0.32731|0.32731	.|.	0.460130|.	0.22687|.	N|.	0.056868|.	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.39898|0.39898	1.24|1.24	0.45946|0.45946	D|D	0.998777|0.998777	B|.	0.27498|.	0.18|.	B|.	0.19391|.	0.025|.	T|T	0.36915|0.36915	-0.9728|-0.9728	10|5	0.59425|.	D|.	0.04|.	.|.	7.346|7.346	0.26664|0.26664	0.0:0.0:0.224:0.776|0.0:0.0:0.224:0.776	.|.	308|.	Q2TAZ0|.	ATG2A_HUMAN|.	V|S	308|109	ENSP00000410522:D308V;ENSP00000366475:D308V|.	ENSP00000227459:D308V|.	D|R	-|-	2|3	0|2	ATG2A|ATG2A	64436297|64436297	1.000000|1.000000	0.71417|0.71417	0.021000|0.021000	0.16686|0.16686	0.028000|0.028000	0.11728|0.11728	2.777000|2.777000	0.47717|0.47717	0.665000|0.665000	0.31066|0.31066	0.459000|0.459000	0.35465|0.35465	GAC|AGA		0.667	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	Missense_Mutation	A	64679721	T	A	64679721	5	1	39	1	0	0	0	0	0	0	1	0	1093	1681	58	5	5029	5	ATG2A	11	64679721	Splice_Site	SNP	T	TCGA-09-0369-01A-01W-0372-09		64679721	70326795	41	1949											
SNX15	29907	genome.wustl.edu	37	11	64799920	64799920	+	Silent	SNP	G	G	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr11:64799920G>T	ENST00000377244.3	+	3	283	c.153G>T	c.(151-153)cgG>cgT	p.R51R	SNX15_ENST00000352068.5_Silent_p.R51R|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	51	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)	p.R51R(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TCTGGAAGCGGTACAGCGACT	0.652																																					Esophageal Squamous(56;269 1304 3324 8253)											1	Substitution - coding silent(1)	ovary(1)	11											82	73	76					11																	64799920		2201	4297	6498	64556496	SO:0001819	synonymous_variant	29907			AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"Sorting nexins"	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.153G>T	11.37:g.64799920G>T			64556496	E5KQS6|Q9NRS5	Silent	SNP	ENST00000377244.3	37	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499266	0.44455	.	.	ENSG00000110025	ENST00000525648	.	.	.	5.48	-0.145	0.13436	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56908	-0.7901	5	0.87932	D	0	-2.8199	3.7697	0.08636	0.1479:0.3458:0.3886:0.1177	.	.	.	.	V	10	.	ENSP00000436023:G10V	G	+	2	0	SNX15	64556496	0.995000	0.38212	1.000000	0.80357	0.778000	0.44026	0.250000	0.18235	0.253000	0.21552	0.655000	0.94253	GGT		0.652	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			T	64799920	G	T	64799920	2	4	39	1	0	0	0	0	0	0	0	1	14889	1248	44	3		3	SNX15	11	64799920	Silent	SNP	G	TCGA-09-0369-01A-01W-0372-09	120199	64799920	70206596	42	1950											
ANO2	57101	genome.wustl.edu	37	12	5963224	5963224	+	Missense_Mutation	SNP	T	T	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr12:5963224T>G	ENST00000356134.5	-	4	677	c.606A>C	c.(604-606)aaA>aaC	p.K202N	ANO2_ENST00000327087.8_Missense_Mutation_p.K202N|ANO2_ENST00000546188.1_Missense_Mutation_p.K202N	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	206					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.K202N(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGGTAGGAACTTTGATCTTCA	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											149	155	153					12																	5963224		1912	4124	6036	5833485	SO:0001583	missense	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.606A>C	12.37:g.5963224T>G	ENSP00000348453:p.Lys202Asn		5833485	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.214394	0.79352	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.69926	-0.44;-0.44;-0.44	5.15	5.15	0.70609	.	0.044965	0.85682	D	0.000000	D	0.83510	0.5270	M	0.90082	3.085	0.53005	D	0.999966	D	0.89917	1.0	D	0.83275	0.996	D	0.85992	0.1489	10	0.56958	D	0.05	.	11.6536	0.51304	0.0:0.0:0.0:1.0	.	202	Q9NQ90-3	.	N	202;202;202;206	ENSP00000314048:K202N;ENSP00000348453:K202N;ENSP00000440981:K202N	ENSP00000314048:K202N	K	-	3	2	ANO2	5833485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.892000	0.48625	2.075000	0.62263	0.528000	0.53228	AAA		0.502	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		G	5963224	T	G	5963224	3	3	39	1	0	0	0	0	1	0	0	0	697	1606	56	5	2482	5	ANO2	12	5963224	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09		5963224	127888671	43	1951											
PZP	5858	genome.wustl.edu	37	12	9356365	9356365	+	Splice_Site	SNP	G	G	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr12:9356365G>A	ENST00000261336.2	-	2	294	c.266C>T	c.(265-267)aCt>aTt	p.T89I	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	89					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T89I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGCACTCACAGTGAAGGAGAC	0.512																																					Melanoma(125;1402 1695 4685 34487 38571)											1	Substitution - Missense(1)	ovary(1)	12											91	76	81					12																	9356365		2203	4300	6503	9247632	SO:0001630	splice_region_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.267+1C>T	12.37:g.9356365G>A			9247632	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	2.611	-0.290797	0.05568	.	.	ENSG00000126838	ENST00000261336	T	0.08634	3.07	2.08	2.08	0.27032	.	0.413883	0.15949	U	0.236816	T	0.07369	0.0186	L	0.42245	1.32	0.80722	D	1	B	0.19706	0.038	B	0.21151	0.033	T	0.18398	-1.0338	10	0.27785	T	0.31	.	7.7209	0.28731	0.0:0.0:1.0:0.0	.	89	P20742	PZP_HUMAN	I	89	ENSP00000261336:T89I	ENSP00000261336:T89I	T	-	2	0	PZP	9247632	0.025000	0.19082	0.927000	0.36925	0.114000	0.19823	-0.026000	0.12392	1.491000	0.48482	0.467000	0.42956	ACT		0.512	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Missense_Mutation	A	9356365	G	A	9356365	5	1	39	1	0	0	0	0	0	0	1	0	12872	1043	36	2	4322	2	PZP	12	9356365	Splice_Site	SNP	G	TCGA-09-0369-01A-01W-0372-09	3393141	9356365	124495530	44	1952											
LRRK2	120892	genome.wustl.edu	37	12	40688693	40688693	+	Missense_Mutation	SNP	T	T	C			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr12:40688693T>C	ENST00000298910.7	+	22	2913	c.2855T>C	c.(2854-2856)aTa>aCa	p.I952T	LRRK2_ENST00000343742.2_Missense_Mutation_p.I952T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	952					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.I952T(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAAGAAAAATATTATCTTCA	0.294																																																2	Substitution - Missense(2)	ovary(2)	12											42	47	46					12																	40688693		2203	4283	6486	38974960	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2855T>C	12.37:g.40688693T>C	ENSP00000298910:p.Ile952Thr		38974960	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	9.906	1.208150	0.22205	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.72167	2.2;-0.63	5.52	3.06	0.35304	.	0.426159	0.25558	N	0.029843	T	0.48447	0.1500	N	0.19112	0.55	0.09310	N	0.999995	B;B	0.23735	0.09;0.013	B;B	0.18871	0.023;0.005	T	0.25293	-1.0136	10	0.23891	T	0.37	.	5.1185	0.14849	0.2808:0.075:0.0:0.6442	.	952;952	E9PC85;Q5S007	.;LRRK2_HUMAN	T	952	ENSP00000341930:I952T;ENSP00000298910:I952T	ENSP00000298910:I952T	I	+	2	0	LRRK2	38974960	0.915000	0.31059	0.459000	0.27081	0.880000	0.50808	1.606000	0.36826	0.337000	0.23665	0.482000	0.46254	ATA		0.294	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		C	40688693	T	C	40688693	3	2	39	1	0	0	0	0	1	0	0	0	9033	1406	49	4	2941	4	LRRK2	12	40688693	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09	31332328	40688693	93163202	45	1953											
OR10A7	121364	genome.wustl.edu	37	12	55615503	55615503	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr12:55615503C>T	ENST00000326258.1	+	1	695	c.695C>T	c.(694-696)aCt>aTt	p.T232I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T232I(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCCTCTGCCACTGGCCGCCAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											123	101	109					12																	55615503		2203	4300	6503	53901770	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.695C>T	12.37:g.55615503C>T	ENSP00000326718:p.Thr232Ile		53901770	Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	c	2.929	-0.221446	0.06061	.	.	ENSG00000179919	ENST00000326258	T	0.00115	8.71	4.08	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.636530	0.13159	N	0.409188	T	0.00178	0.0005	L	0.48642	1.525	0.09310	N	1	B	0.21905	0.062	B	0.34242	0.178	T	0.17198	-1.0377	10	0.54805	T	0.06	.	8.4626	0.32936	0.4155:0.4467:0.1378:0.0	.	232	Q8NGE5	O10A7_HUMAN	I	232	ENSP00000326718:T232I	ENSP00000326718:T232I	T	+	2	0	OR10A7	53901770	0.000000	0.05858	0.019000	0.16419	0.079000	0.17450	-0.157000	0.10085	0.467000	0.27218	0.637000	0.83480	ACT		0.488	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			T	55615503	C	T	55615503	3	4	39	1	0	0	0	0	1	0	0	0	10895	565	20	2	697	2	OR10A7	12	55615503	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	14926810	55615503	78236392	46	1954											
MYF5	4617	genome.wustl.edu	37	12	81112214	81112214	+	Splice_Site	SNP	T	T	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr12:81112214T>G	ENST00000228644.3	+	2	729		c.e2+2			NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5						camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TATCAAATGGTAAGAATTGAT	0.398																																																1	Unknown(1)	ovary(1)	12											152	144	146					12																	81112214		2203	4300	6503	79636345	SO:0001630	splice_region_variant	4617				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.577+2T>G	12.37:g.81112214T>G			79636345	Q6ISR9	Splice_Site	SNP	ENST00000228644.3	37	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653275	0.67472	.	.	ENSG00000111049	ENST00000228644	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5272	0.75919	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYF5	79636345	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.462000	0.73526	2.311000	0.77944	0.533000	0.62120	.		0.398	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593	Intron	G	81112214	T	G	81112214	5	3	39	1	0	0	0	0	0	0	1	0	10027	1652	57	5	585	5	MYF5	12	81112214	Splice_Site	SNP	T	TCGA-09-0369-01A-01W-0372-09	25496711	81112214	52739681	47	1955											
FLT3	2322	genome.wustl.edu	37	13	28608122	28608122	+	Missense_Mutation	SNP	A	A	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr13:28608122A>G	ENST00000241453.7	-	15	1925	c.1844T>C	c.(1843-1845)gTa>gCa	p.V615A	FLT3_ENST00000380982.4_Missense_Mutation_p.V615A|FLT3_ENST00000537084.1_Missense_Mutation_p.V615A	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V615A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATCCTAGTACCTTCCCTGC	0.403			"Mis, O"		"AML, ALL"																																		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Substitution - Missense(1)	ovary(1)	13											239	220	226					13																	28608122		2203	4300	6503	27506122	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1844T>C	13.37:g.28608122A>G	ENSP00000241453:p.Val615Ala		27506122	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733790	0.48939	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89875	-2.58;-2.58;-2.58	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	D	0.84656	0.5520	L	0.33753	1.03	0.47778	D	0.999513	P;B	0.35575	0.51;0.011	B;B	0.34590	0.186;0.061	D	0.85355	0.1104	10	0.62326	D	0.03	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	615;615	P36888-2;P36888	.;FLT3_HUMAN	A	615	ENSP00000241453:V615A;ENSP00000370369:V615A;ENSP00000438139:V615A	ENSP00000241453:V615A	V	-	2	0	FLT3	27506122	0.987000	0.35691	0.967000	0.41034	0.831000	0.47069	3.376000	0.52417	2.271000	0.75665	0.533000	0.62120	GTA		0.403	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			G	28608122	A	G	28608122	3	3	39	1	0	0	0	0	1	0	0	0	5942	391	14	4	1177	4	FLT3	13	28608122	Missense_Mutation	SNP	A	TCGA-09-0369-01A-01W-0372-09		28608122	86561756	48	1956											
CCNB1IP1	57820	genome.wustl.edu	37	14	20781754	20781754	+	Missense_Mutation	SNP	A	A	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr14:20781754A>T	ENST00000398169.3	-	6	1120	c.504T>A	c.(502-504)aaT>aaA	p.N168K	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.N168K|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.N168K|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.N168K|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.N168K|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.N168K			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	168					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N168K(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GATACTGACGATTGCGCTCCA	0.423			T	HMGA2	leiomyoma																																		Dom	yes		14	14q11.2	57820	"cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"		M	1	Substitution - Missense(1)	ovary(1)	14											170	153	159					14																	20781754		2203	4300	6503	19851594	SO:0001583	missense	57820			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"human enhancer of invasion 10"	608249	"chromosome 14 open reading frame 18", "cyclin B1 interacting protein 1"	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.504T>A	14.37:g.20781754A>T	ENSP00000381235:p.Asn168Lys		19851594		Missense_Mutation	SNP	ENST00000398169.3	37	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831139	0.71258	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163	.	.	.	5.14	2.71	0.32032	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.42245	1.32	0.42281	D	0.992098	P	0.50528	0.936	P	0.50708	0.648	T	0.39761	-0.9598	9	0.34782	T	0.22	-24.064	7.5592	0.27841	0.7588:0.0:0.2412:0.0	.	168	Q9NPC3	CIP1_HUMAN	K	168	.	ENSP00000337396:N168K	N	-	3	2	CCNB1IP1	19851594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.325000	0.52030	0.860000	0.35481	0.459000	0.35465	AAT		0.423	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		T	20781754	A	T	20781754	3	4	39	1	0	0	0	0	1	0	0	0	2912	330	12	5	337	5	CCNB1IP1	14	20781754	Missense_Mutation	SNP	A	TCGA-09-0369-01A-01W-0372-09		20781754	86567786	49	1957											
ATP6V1D	51382	genome.wustl.edu	37	14	67805358	67805358	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr14:67805358C>T	ENST00000216442.7	-	9	1274	c.724G>A	c.(724-726)Gag>Aag	p.E242K	ATP6V1D_ENST00000555474.1_Missense_Mutation_p.E143K|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.E187K|ATP6V1D_ENST00000553974.1_5'Flank|Y_RNA_ENST00000362885.1_RNA|ATP6V1D_ENST00000554236.1_3'UTR	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	242					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.E242K(1)		lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		AGAAGATCCTCGTCCTTCTCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	14											170	178	176					14																	67805358		2203	4300	6503	66875111	SO:0001583	missense	51382			AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"ATPases / V-type"	13527	protein-coding gene	gene with protein product		609398	"ATPase, H+ transporting, lysosomal (vacuolar proton pump)"	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.724G>A	14.37:g.67805358C>T	ENSP00000216442:p.Glu242Lys		66875111	B2RE33|Q9Y688	Missense_Mutation	SNP	ENST00000216442.7	37	CCDS9780.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.858971	0.71834	.	.	ENSG00000100554	ENST00000555474;ENST00000216442;ENST00000555431	.	.	.	5.83	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	N	0.19112	0.55	0.80722	D	1	P	0.41232	0.743	B	0.39258	0.295	T	0.41787	-0.9489	9	0.62326	D	0.03	-26.7602	12.8657	0.57937	0.0:0.8662:0.0:0.1338	.	242	Q9Y5K8	VATD_HUMAN	K	143;242;187	.	ENSP00000216442:E242K	E	-	1	0	ATP6V1D	66875111	1.000000	0.71417	0.906000	0.35671	0.477000	0.33069	7.047000	0.76599	1.477000	0.48234	-0.136000	0.14681	GAG		0.418	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412511.1	NM_015994		T	67805358	C	T	67805358	3	4	39	1	0	0	0	0	1	0	0	0	1182	893	31	1	23	1	ATP6V1D	14	67805358	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	47023604	67805358	39544182	50	1958											
GCHFR	2644	genome.wustl.edu	37	15	41059450	41059450	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr15:41059450C>T	ENST00000260447.4	+	3	319	c.158C>T	c.(157-159)cCc>cTc	p.P53L	C15orf62_ENST00000344320.6_5'Flank|DNAJC17_ENST00000558727.1_5'Flank|GCHFR_ENST00000559932.1_Missense_Mutation_p.P36L|GCHFR_ENST00000558467.1_Missense_Mutation_p.P36L|GCHFR_ENST00000559445.1_Missense_Mutation_p.P42L|GCHFR_ENST00000558670.1_3'UTR	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	53					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)	p.P53L(1)		endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GATGACCCTCCCCGCATAGTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	15											111	103	106					15																	41059450		2203	4300	6503	38846742	SO:0001583	missense	2644			U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"GTP cyclohydrolase I feedback regulatory protein"			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.158C>T	15.37:g.41059450C>T	ENSP00000260447:p.Pro53Leu		38846742	B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Missense_Mutation	SNP	ENST00000260447.4	37	CCDS10064.1	.	.	.	.	.	.	.	.	.	.	C	35	5.484271	0.96307	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84949	0.0870	8	0.87932	D	0	-4.6292	19.6421	0.95762	0.0:1.0:0.0:0.0	.	42;53	B7ZLM8;P30047	.;GFRP_HUMAN	L	53	.	ENSP00000260447:P53L	P	+	2	0	GCHFR	38846742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.313000	0.78978	2.815000	0.96918	0.561000	0.74099	CCC		0.592	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2	NM_005258		T	41059450	C	T	41059450	3	4	39	1	0	0	0	0	1	0	0	0	6292	623	22	2	168	2	GCHFR	15	41059450	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09		41059450	61471942	51	1959											
MFGE8	4240	genome.wustl.edu	37	15	89450599	89450599	+	Missense_Mutation	SNP	C	C	G			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr15:89450599C>G	ENST00000566497.1	-	3	275	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	MFGE8_ENST00000542878.1_Missense_Mutation_p.E28Q|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000268150.8_Missense_Mutation_p.E72Q|MFGE8_ENST00000539437.1_Missense_Mutation_p.E64Q|MFGE8_ENST00000268151.7_Missense_Mutation_p.E72Q			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	72	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)	p.E72Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCCAGTGGCTCGACACATTCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	15											95	71	79					15																	89450599		2200	4299	6499	87251603	SO:0001583	missense	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.214G>C	15.37:g.89450599C>G	ENSP00000456281:p.Glu72Gln		87251603	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	C	9.179	1.023036	0.19433	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-1.64	5.32	1.55	0.23275	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.903251	0.09933	N	0.736947	D	0.92021	0.7472	N	0.17379	0.485	0.09310	N	1	P;P;P;P;P;P	0.39665	0.521;0.682;0.521;0.501;0.653;0.521	B;B;B;B;B;B	0.43623	0.244;0.359;0.244;0.425;0.425;0.244	D	0.85534	0.1211	10	0.14252	T	0.57	-5.2285	4.4457	0.11597	0.1452:0.2604:0.0:0.5944	.	64;28;28;64;72;72	B3KTQ2;F5GZN3;B4E396;F5H7N9;Q08431-3;Q08431	.;.;.;.;.;MFGM_HUMAN	Q	72;72;64;28	ENSP00000268150:E72Q;ENSP00000268151:E72Q;ENSP00000442386:E64Q;ENSP00000444332:E28Q	ENSP00000268150:E72Q	E	-	1	0	MFGE8	87251603	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.231000	0.17872	0.268000	0.21939	0.462000	0.41574	GAG		0.592	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		G	89450599	C	G	89450599	3	3	39	1	0	0	0	0	1	0	0	0	9520	893	31	3	973	3	MFGE8	15	89450599	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	48391149	89450599	13080793	52	1960											
LASS3	204219	genome.wustl.edu	37	15	101013152	101013152	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr15:101013152C>T	ENST00000394113.1	-	11	1405	c.715G>A	c.(715-717)Gat>Aat	p.D239N	CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.D239N|CERS3_ENST00000284382.4_Missense_Mutation_p.D239N			Q8IU89	CERS3_HUMAN	ceramide synthase 3	239	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.D239N(1)									TCAGCCACATCGTGTACAATC	0.438																																																1	Substitution - Missense(1)	ovary(1)	15											114	100	105					15																	101013152		2203	4300	6503	98830675	SO:0001583	missense	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.715G>A	15.37:g.101013152C>T	ENSP00000377672:p.Asp239Asn		98830675	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322713	0.95708	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.87650	-2.28;-2.28	5.92	5.92	0.95590	TRAM/LAG1/CLN8 homology domain (3);	0.045398	0.85682	D	0.000000	D	0.94215	0.8143	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94330	0.7561	10	0.87932	D	0	-26.0758	19.0795	0.93177	0.0:1.0:0.0:0.0	.	239	Q8IU89	CERS3_HUMAN	N	239;250;239	ENSP00000284382:D239N;ENSP00000437640:D239N	ENSP00000284382:D239N	D	-	1	0	CERS3	98830675	1.000000	0.71417	0.580000	0.28601	0.855000	0.48748	6.620000	0.74224	2.795000	0.96236	0.655000	0.94253	GAT		0.438	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		T	101013152	C	T	101013152	3	4	39	1	0	0	0	0	1	0	0	0	8640	884	31	1	452	1	LASS3	15	101013152	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	11562553	101013152	1518240	53	1961											
ITGAX	3687	genome.wustl.edu	37	16	31373161	31373161	+	Silent	SNP	G	G	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr16:31373161G>A	ENST00000268296.4	+	10	1138	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	ITGAX_ENST00000562522.1_Silent_p.T339T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	339	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.T339T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCCAGGTACGGAGACCACAA	0.577																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	16											134	114	121					16																	31373161		2197	4300	6497	31280662	SO:0001819	synonymous_variant	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1017G>A	16.37:g.31373161G>A			31280662	Q8IVA6	Silent	SNP	ENST00000268296.4	37	CCDS10711.1																																																																																				0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31373161	G	A	31373161	2	1	39	1	0	0	0	0	0	0	0	1	7889	1103	39	1		1	ITGAX	16	31373161	Silent	SNP	G	TCGA-09-0369-01A-01W-0372-09		31373161	58981592	54	1962											
TP53	7157	genome.wustl.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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"	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	17	GRCh37	CM083194|CM951225	TP53	M							97	87	90					17																	7578271		2203	4300	6503	7518996	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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg		7518996	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	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	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	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578271	T	C	7578271	3	2	39	1	0	0	0	0	1	0	0	0	16381	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-09-0369-01A-01W-0372-09		7578271	73616939	55	1963											
AOC2	314	genome.wustl.edu	37	17	41001637	41001637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr17:41001637C>T	ENST00000253799.3	+	3	1921	c.1894C>T	c.(1894-1896)Cag>Tag	p.Q632*	AOC3_ENST00000308423.2_5'Flank|AOC2_ENST00000452774.2_Nonsense_Mutation_p.Q605*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	632					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.Q632*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGTGGTGACCCAGAGAAAGGA	0.483																																																1	Substitution - Nonsense(1)	ovary(1)	17											127	107	114					17																	41001637		2203	4300	6503	38255163	SO:0001587	stop_gained	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1894C>T	17.37:g.41001637C>T	ENSP00000253799:p.Gln632*		38255163	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Nonsense_Mutation	SNP	ENST00000253799.3	37	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909906	0.92107	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	.	.	.	4.76	3.79	0.43588	.	0.372152	0.29806	N	0.011150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4189	13.0905	0.59164	0.442:0.558:0.0:0.0	.	.	.	.	X	632;605	.	ENSP00000253799:Q632X	Q	+	1	0	AOC2	38255163	0.001000	0.12720	1.000000	0.80357	0.732000	0.41865	0.803000	0.27083	1.213000	0.43380	0.561000	0.74099	CAG		0.483	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		T	41001637	C	T	41001637	4	4	39	1	0	0	0	0	0	1	0	0	727	595	21	2	1904	2	AOC2	17	41001637	Nonsense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	33423366	41001637	40193573	56	1964											
ACBD4	79777	genome.wustl.edu	37	17	43213977	43213977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr17:43213977C>T	ENST00000376955.4	+	3	496	c.199C>T	c.(199-201)Cga>Tga	p.R67*	ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000321854.8_Nonsense_Mutation_p.R67*|ACBD4_ENST00000398322.3_Nonsense_Mutation_p.R67*|ACBD4_ENST00000591859.1_Nonsense_Mutation_p.R67*|ACBD4_ENST00000586346.1_Nonsense_Mutation_p.R67*|ACBD4_ENST00000431281.1_Nonsense_Mutation_p.R67*|ACBD4_ENST00000592162.1_Nonsense_Mutation_p.R67*	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	67	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.R67*(1)		kidney(1)|lung(3)|ovary(1)	5						CCCCATTGGACGATATAAGTG	0.622																																																1	Substitution - Nonsense(1)	ovary(1)	17											41	47	45					17																	43213977		1873	4110	5983	40569503	SO:0001587	stop_gained	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 4"				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.199C>T	17.37:g.43213977C>T	ENSP00000366154:p.Arg67*		40569503	D3DX64|Q8IUT1|Q9H8Q4	Nonsense_Mutation	SNP	ENST00000376955.4	37	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	C	40	7.932850	0.98568	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1007	0.48172	0.1843:0.8157:0.0:0.0	.	.	.	.	X	67	.	ENSP00000314440:R67X	R	+	1	2	ACBD4	40569503	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	2.677000	0.91161	0.561000	0.74099	CGA		0.622	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		T	43213977	C	T	43213977	4	4	39	1	0	0	0	0	0	1	0	0	124	528	19	1	205	1	ACBD4	17	43213977	Nonsense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	2212340	43213977	37981233	57	1965											
AP1M1	8907	genome.wustl.edu	37	19	16314300	16314300	+	Missense_Mutation	SNP	G	G	A	rs372560384		TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr19:16314300G>A	ENST00000291439.3	+	2	522	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	AP1M1_ENST00000429941.2_Missense_Mutation_p.V25M|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.V25M|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	25					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.V25M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCGTGGCGACGTGGACATGTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											99	82	87					19																	16314300		2203	4300	6503	16175300	SO:0001583	missense	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.73G>A	19.37:g.16314300G>A	ENSP00000291439:p.Val25Met		16175300	Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018315	0.54576	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.67171	0.33;0.33;-0.25	4.45	3.41	0.39046	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.75447	2.3	0.80722	D	1	P;P;B	0.39551	0.62;0.678;0.42	B;B;B	0.42163	0.378;0.271;0.271	T	0.70357	-0.4894	10	0.66056	D	0.02	-28.2059	10.9899	0.47543	0.0911:0.0:0.9089:0.0	.	25;25;25	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	M	25	ENSP00000388996:V25M;ENSP00000291439:V25M;ENSP00000411498:V25M	ENSP00000291439:V25M	V	+	1	0	AP1M1	16175300	1.000000	0.71417	0.961000	0.40146	0.963000	0.63663	7.633000	0.83260	0.873000	0.35799	0.561000	0.74099	GTG		0.592	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		A	16314300	G	A	16314300	3	1	39	1	0	0	0	0	1	0	0	0	734	1145	40	1	79	1	AP1M1	19	16314300	Missense_Mutation	SNP	G	TCGA-09-0369-01A-01W-0372-09		16314300	42814683	58	1966											
PSENEN	55851	genome.wustl.edu	37	19	36237686	36237686	+	Missense_Mutation	SNP	C	C	T			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chr19:36237686C>T	ENST00000587708.2	+	4	927	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	PSENEN_ENST00000222266.2_Missense_Mutation_p.R82W|U2AF1L4_ENST00000412391.2_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|AD000671.6_ENST00000589807.1_5'Flank|U2AF1L4_ENST00000292879.5_5'Flank|AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000591949.1_3'UTR|AC002398.11_ENST00000585365.1_RNA|U2AF1L4_ENST00000378975.3_5'Flank|LIN37_ENST00000301159.9_5'Flank|AC002398.11_ENST00000591091.1_RNA			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	82					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R82W(1)		central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGATCTACCGGCCCCGCTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											69	72	71					19																	36237686		2203	4300	6503	40929526	SO:0001583	missense	55851			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"presenilin enhancer 2 homolog (C. elegans)"			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.244C>T	19.37:g.36237686C>T	ENSP00000468411:p.Arg82Trp		40929526	B2R5L9	Missense_Mutation	SNP	ENST00000587708.2	37	CCDS12474.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115520	0.77323	.	.	ENSG00000205155	ENST00000222266	D	0.81739	-1.53	5.86	2.58	0.30949	.	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85887	0.1426	10	0.87932	D	0	-15.535	7.7582	0.28936	0.1413:0.7176:0.0:0.1411	.	82	Q9NZ42	PEN2_HUMAN	W	82	ENSP00000222266:R82W	ENSP00000222266:R82W	R	+	1	2	PSENEN	40929526	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.576000	0.46033	0.368000	0.24481	-1.047000	0.02352	CGG		0.587	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459101.2	NM_172341		T	36237686	C	T	36237686	3	4	39	1	0	0	0	0	1	0	0	0	12655	643	23	1	254	1	PSENEN	19	36237686	Missense_Mutation	SNP	C	TCGA-09-0369-01A-01W-0372-09	19923386	36237686	22891297	59	1967											
FAM123B	139285	genome.wustl.edu	37	X	63410536	63410536	+	Silent	SNP	G	G	A			TCGA-09-0369-01A-01W-0372-09	TCGA-09-0369-10C-01W-0372-09	G	A	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	Sequenom_PCR_WGA		dbGAP	Illumina GAIIx	633f5c4d-c224-404c-9f68-24daafd1fc84	8aa636a7-a6a8-4a11-b9bd-225d17711a2d	g.chrX:63410536G>A	ENST00000330258.3	-	2	2903	c.2631C>T	c.(2629-2631)ggC>ggT	p.G877G	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	877					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GAGGGTGCAGGCCAGGCAGTC	0.572																																																67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	X											43	45	44					X																	63410536		2111	4205	6316	63327261	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2631C>T	X.37:g.63410536G>A			63327261	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																				0.572	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		A	63410536	G	A	63410536	2	1	39	1	0	0	0	0	0	0	0	1	5423	1190	42	2		2	FAM123B	23	63410536	Silent	SNP	G	TCGA-09-0369-01A-01W-0372-09		63410536	91860024	60	1968											
KPRP	448834	hgsc.bcm.edu	37	1	152732148	152732148	+	Silent	SNP	C	C	T			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr1:152732148C>T	ENST00000606109.1	+	1	112	c.84C>T	c.(82-84)tcC>tcT	p.S28S	KPRP_ENST00000368773.1_Silent_p.S28S			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	28	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S28S(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTCAATCCCCCTTTGCCC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1											122	120	121					1																	152732148		2203	4300	6503	150998772	SO:0001819	synonymous_variant	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.84C>T	1.37:g.152732148C>T			150998772		Silent	SNP	ENST00000606109.1	37	CCDS30862.1																																																																																				0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		T	152732148	C	T	152732148	2	4	40	1	0	0	0	0	0	0	0	1	8436	610	22	2		2	KPRP	1	152732148	Silent	SNP	C	TCGA-09-1659-01B-01W-0615-10		152732148	96518473	1	1969											
PREB	10113	hgsc.bcm.edu	37	2	27354542	27354542	+	Missense_Mutation	SNP	C	C	T	rs145631757	byFrequency	TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr2:27354542C>T	ENST00000260643.2	-	8	1410	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	PREB_ENST00000406567.3_Missense_Mutation_p.R328Q|PREB_ENST00000416802.1_5'Flank	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	386					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R386Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACTCACGCCGTGAGGGCAA	0.607													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		19960	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	98	99	98		1157	4	1	2	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	PREB	NM_013388.4	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	386/418	27354542	2,13004	2203	4300	6503	27208046	SO:0001583	missense	10113				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"WD repeat domain containing"	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.1157G>A	2.37:g.27354542C>T	ENSP00000260643:p.Arg386Gln		27208046	Q53SZ8|Q9UH94	Missense_Mutation	SNP	ENST00000260643.2	37	CCDS1738.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266654	0.80358	2.27E-4	1.16E-4	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	T;T	0.80653	-1.4;-1.29	4.9	4.01	0.46588	.	0.203741	0.42172	D	0.000750	D	0.86243	0.5886	M	0.78456	2.415	0.46499	D	0.999079	D;D	0.89917	1.0;0.999	P;P	0.59546	0.859;0.766	D	0.85445	0.1157	10	0.38643	T	0.18	-22.0571	11.1222	0.48298	0.0:0.814:0.186:0.0	.	328;386	B5MC98;Q9HCU5	.;PREB_HUMAN	Q	386;328;386	ENSP00000260643:R386Q;ENSP00000384032:R328Q	ENSP00000260643:R386Q	R	-	2	0	PREB	27208046	0.949000	0.32298	0.997000	0.53966	0.943000	0.58893	5.088000	0.64486	1.265000	0.44215	0.655000	0.94253	CGG		0.607	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		T	27354542	C	T	27354542	3	4	40	1	0	0	0	0	1	0	0	0	12473	652	23	1	104	1	PREB	2	27354542	Missense_Mutation	SNP	C	TCGA-09-1659-01B-01W-0615-10		27354542	215844831	2	1970											
SLC6A20	54716	hgsc.bcm.edu	37	3	45823692	45823692	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr3:45823692T>G	ENST00000358525.4	-	2	260	c.145A>C	c.(145-147)Atc>Ctc	p.I49L	SLC6A20_ENST00000353278.4_Missense_Mutation_p.I49L|SLC6A20_ENST00000456124.2_Missense_Mutation_p.I49L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	49					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.I49L(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ATAAGCATGATGATGTAGGGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	3											103	79	87					3																	45823692		2203	4300	6503	45798696	SO:0001583	missense	54716			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.145A>C	3.37:g.45823692T>G	ENSP00000346298:p.Ile49Leu		45798696	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	t	16.09	3.025017	0.54683	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.75367	-0.93;-0.93;-0.93	5.15	-0.0749	0.13728	.	0.291554	0.32687	N	0.005776	T	0.58452	0.2123	L	0.38649	1.16	0.32356	N	0.557754	B;B	0.21309	0.054;0.039	B;B	0.25140	0.034;0.058	T	0.50381	-0.8835	10	0.32370	T	0.25	.	5.8327	0.18588	0.0:0.2102:0.1296:0.6602	.	49;49	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	L	49	ENSP00000296133:I49L;ENSP00000346298:I49L;ENSP00000404310:I49L	ENSP00000296133:I49L	I	-	1	0	SLC6A20	45798696	1.000000	0.71417	0.980000	0.43619	0.967000	0.64934	0.862000	0.27899	-0.228000	0.09869	0.449000	0.29647	ATC		0.587	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		G	45823692	T	G	45823692	3	3	40	1	0	0	0	0	1	0	0	0	14687	1464	51	5	1673	5	SLC6A20	3	45823692	Missense_Mutation	SNP	T	TCGA-09-1659-01B-01W-0615-10		45823692	152198738	3	1971											
MYLK	4638	hgsc.bcm.edu	37	3	123512657	123512657	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr3:123512657T>C	ENST00000475616.1	-	1	31	c.32A>G	c.(31-33)cAc>cGc	p.H11R	MYLK_ENST00000360304.3_Missense_Mutation_p.H11R|MYLK_ENST00000360772.3_Missense_Mutation_p.H11R|MYLK_ENST00000346322.5_Missense_Mutation_p.H11R|MYLK_ENST00000359169.1_Missense_Mutation_p.H11R			Q15746	MYLK_HUMAN	myosin light chain kinase	11					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.H11R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTTGGAAATGTGTGACGAGGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	3											70	70	70					3																	123512657		2203	4300	6503	124995347	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.32A>G	3.37:g.123512657T>C	ENSP00000418335:p.His11Arg		124995347	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	7.724	0.697861	0.15106	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616;ENST00000360367	T;T;T;T;T	0.64991	-0.13;-0.08;-0.13;-0.04;-0.08	5.76	3.37	0.38596	.	.	.	.	.	T	0.37892	0.1020	N	0.12182	0.205	0.20074	N	0.999936	B;B;B;B;B;B;B	0.24186	0.0;0.0;0.099;0.078;0.002;0.078;0.0	B;B;B;B;B;B;B	0.24701	0.001;0.001;0.034;0.055;0.002;0.055;0.0	T	0.22487	-1.0215	9	0.16896	T	0.51	.	4.4744	0.11727	0.1722:0.0892:0.0:0.7386	.	11;11;11;11;11;11;11	Q15746-6;Q15746-5;D3DN97;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;.;MYLK_HUMAN	R	11	ENSP00000354004:H11R;ENSP00000353452:H11R;ENSP00000352088:H11R;ENSP00000320622:H11R;ENSP00000418335:H11R	ENSP00000320622:H11R	H	-	2	0	MYLK	124995347	0.927000	0.31430	0.179000	0.23059	0.647000	0.38526	1.633000	0.37113	0.959000	0.37980	0.533000	0.62120	CAC		0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		C	123512657	T	C	123512657	3	2	40	1	0	0	0	0	1	0	0	0	10056	1696	59	4	5836	4	MYLK	3	123512657	Missense_Mutation	SNP	T	TCGA-09-1659-01B-01W-0615-10	77688965	123512657	74509773	4	1972											
TRIM36	55521	hgsc.bcm.edu	37	5	114482962	114482962	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr5:114482962T>A	ENST00000282369.3	-	3	549	c.428A>T	c.(427-429)gAa>gTa	p.E143V	TRIM36_ENST00000513154.1_Missense_Mutation_p.E131V|TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	143					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E143V(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ACGATATCTTTCCACAATAGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											175	163	167					5																	114482962		2202	4300	6502	114510861	SO:0001583	missense	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.428A>T	5.37:g.114482962T>A	ENSP00000282369:p.Glu143Val		114510861	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196232	0.78902	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.88509	-2.39;-2.39;-2.39	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.95322	0.8482	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.963;0.991	D	0.96225	0.9163	10	0.87932	D	0	.	15.4037	0.74861	0.0:0.0:0.0:1.0	.	131;143	E9PFI8;Q9NQ86	.;TRI36_HUMAN	V	143;131;141	ENSP00000282369:E143V;ENSP00000423934:E131V;ENSP00000424743:E141V	ENSP00000282369:E143V	E	-	2	0	TRIM36	114510861	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.587000	0.82613	2.028000	0.59812	0.482000	0.46254	GAA		0.458	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		A	114482962	T	A	114482962	3	1	40	1	0	0	0	0	1	0	0	0	16510	1783	62	5	1790	5	TRIM36	5	114482962	Missense_Mutation	SNP	T	TCGA-09-1659-01B-01W-0615-10		114482962	66432298	5	1973											
ACSL6	23305	hgsc.bcm.edu	37	5	131309041	131309041	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr5:131309041C>T	ENST00000379240.1	-	12	1199	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ACSL6_ENST00000296869.4_Missense_Mutation_p.R374H|ACSL6_ENST00000379264.2_Missense_Mutation_p.R374H|ACSL6_ENST00000357096.1_Missense_Mutation_p.R274H|ACSL6_ENST00000379272.2_Missense_Mutation_p.R364H|ACSL6_ENST00000379244.1_Missense_Mutation_p.R349H|ACSL6_ENST00000379249.3_Missense_Mutation_p.R349H|ACSL6_ENST00000379246.1_Missense_Mutation_p.R360H|ACSL6_ENST00000379255.1_Missense_Mutation_p.R274H|ACSL6_ENST00000543479.1_Missense_Mutation_p.R349H|ACSL6_ENST00000431707.1_Missense_Mutation_p.R329H|ACSL6_ENST00000544770.1_Missense_Mutation_p.R258H			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	349					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.R374H(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGAGAAGGCGGATATCTCC	0.547																																																1	Substitution - Missense(1)	ovary(1)	5											108	93	98					5																	131309041		2203	4300	6503	131336940	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1046G>A	5.37:g.131309041C>T	ENSP00000368542:p.Arg349His		131336940	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	C	16.95	3.264440	0.59431	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	2.82;2.82;2.82;0.98;0.98;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.56	5.56	0.83823	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.84846	2.72	0.80722	D	1	D;P;P;D;P;P;P	0.89917	1.0;0.933;0.886;0.999;0.83;0.933;0.933	D;B;B;D;B;B;B	0.74023	0.982;0.332;0.363;0.982;0.221;0.332;0.332	T	0.73764	-0.3880	10	0.62326	D	0.03	.	19.5863	0.95490	0.0:1.0:0.0:0.0	.	349;364;339;349;274;374;374	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	H	349;374;364;274;274;374;360;349;258;349;329;349;314	ENSP00000368551:R349H;ENSP00000368566:R374H;ENSP00000368574:R364H;ENSP00000349608:R274H;ENSP00000368557:R274H;ENSP00000296869:R374H;ENSP00000368548:R360H;ENSP00000368546:R349H;ENSP00000445154:R258H;ENSP00000368542:R349H;ENSP00000413329:R329H;ENSP00000442124:R349H;ENSP00000397507:R314H	ENSP00000296869:R374H	R	-	2	0	ACSL6	131336940	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	7.708000	0.84633	2.639000	0.89480	0.650000	0.86243	CGC		0.547	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		T	131309041	C	T	131309041	3	4	40	1	0	0	0	0	1	0	0	0	181	768	27	1	1087	1	ACSL6	5	131309041	Missense_Mutation	SNP	C	TCGA-09-1659-01B-01W-0615-10	16826079	131309041	49606219	6	1974											
ARHGAP26	23092	hgsc.bcm.edu	37	5	142281604	142281604	+	Splice_Site	SNP	C	C	T	rs142837036		TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr5:142281604C>T	ENST00000274498.4	+	7	1080	c.702C>T	c.(700-702)aaC>aaT	p.N234N	ARHGAP26_ENST00000378004.3_Splice_Site_p.N234N	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	234					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.N234N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATACAGAACGTGAGTGGGC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	5						C	,	0,4406		0,0,2203	126	111	116		702,702	-7.5	0.9	5	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ARHGAP26	NM_001135608.1,NM_015071.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	234/760,234/815	142281604	1,13005	2203	4300	6503	142261788	SO:0001630	splice_region_variant	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.702+1C>T	5.37:g.142281604C>T			142261788	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	CCDS4277.1																																																																																				0.463	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	Silent	T	142281604	C	T	142281604	5	4	40	1	0	0	0	0	0	0	1	0	875	550	19	1	728	1	ARHGAP26	5	142281604	Splice_Site	SNP	C	TCGA-09-1659-01B-01W-0615-10	10972563	142281604	38633656	7	1975											
ENTPD4	9583	hgsc.bcm.edu	37	8	23305377	23305377	+	Silent	SNP	G	G	A			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr8:23305377G>A	ENST00000358689.4	-	4	463	c.228C>T	c.(226-228)gaC>gaT	p.D76D	ENTPD4_ENST00000356206.6_Silent_p.D76D|ENTPD4_ENST00000417069.2_Silent_p.D76D	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	76					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.D76D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TAGCTTCAATGTCGGTAACTC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	8											205	155	172					8																	23305377		2203	4300	6503	23361322	SO:0001819	synonymous_variant	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.228C>T	8.37:g.23305377G>A			23361322	D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	CCDS6041.1																																																																																				0.443	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		A	23305377	G	A	23305377	2	1	40	1	0	0	0	0	0	0	0	1	5141	1368	48	2		2	ENTPD4	8	23305377	Silent	SNP	G	TCGA-09-1659-01B-01W-0615-10		23305377	123058645	8	1976											
SNTG1	54212	hgsc.bcm.edu	37	8	51465654	51465654	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr8:51465654G>T	ENST00000522124.1	+	12	1386	c.725G>T	c.(724-726)gGg>gTg	p.G242V	SNTG1_ENST00000517473.1_Missense_Mutation_p.G242V|SNTG1_ENST00000518864.1_Missense_Mutation_p.G242V|SNTG1_ENST00000276467.5_Missense_Mutation_p.G242V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	242					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.G242V(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTCTGCACTGGGATTATTCAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	8											153	130	138					8																	51465654		2203	4300	6503	51628207	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.725G>T	8.37:g.51465654G>T	ENSP00000429842:p.Gly242Val		51628207	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265487	0.59431	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.2	5.2	0.72013	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.64398	-0.6417	10	0.15499	T	0.54	.	17.7901	0.88550	0.0:0.0:1.0:0.0	.	242;242	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	242	ENSP00000429276:G242V;ENSP00000429842:G242V;ENSP00000431123:G242V;ENSP00000276467:G242V	ENSP00000276467:G242V	G	+	2	0	SNTG1	51628207	1.000000	0.71417	0.997000	0.53966	0.212000	0.24457	8.820000	0.92003	2.437000	0.82529	0.558000	0.71614	GGG		0.418	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			T	51465654	G	T	51465654	3	4	40	1	0	0	0	0	1	0	0	0	14877	1232	43	3	763	3	SNTG1	8	51465654	Missense_Mutation	SNP	G	TCGA-09-1659-01B-01W-0615-10	28160277	51465654	94898368	9	1977											
MYPN	84665	hgsc.bcm.edu	37	10	69955239	69955239	+	Silent	SNP	A	A	T			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr10:69955239A>T	ENST00000358913.5	+	15	3596	c.3108A>T	c.(3106-3108)gtA>gtT	p.V1036V	MYPN_ENST00000540630.1_Silent_p.V1036V|MYPN_ENST00000354393.2_Silent_p.V761V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1036	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.V1036V(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACTTGATGGTACAAAGTTTGC	0.438																																																1	Substitution - coding silent(1)	ovary(1)	10											104	100	101					10																	69955239		2203	4300	6503	69625245	SO:0001819	synonymous_variant	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3108A>T	10.37:g.69955239A>T			69625245	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	CCDS7275.1																																																																																				0.438	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		T	69955239	A	T	69955239	2	4	40	1	0	0	0	0	0	0	0	1	10098	378	14	5		5	MYPN	10	69955239	Silent	SNP	A	TCGA-09-1659-01B-01W-0615-10		69955239	65579508	10	1978											
KLRC2	3823	hgsc.bcm.edu	37	12	10588462	10588462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr12:10588462C>A	ENST00000539033.1	-	1	138	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Nonsense_Mutation_p.E42*|KLRC2_ENST00000381901.1_Nonsense_Mutation_p.E42*														p.E42*(1)									AGATTTAATTCTACTTGGAAT	0.368																																																1	Substitution - Nonsense(1)	ovary(1)	12											145	159	155					12																	10588462		2202	4299	6501	10479729	SO:0001587	stop_gained	3822																														ENST00000539033.1:c.124G>T	12.37:g.10588462C>A	ENSP00000437563:p.Glu42*		10479729		Nonsense_Mutation	SNP	ENST00000539033.1	37		.	.	.	.	.	.	.	.	.	.	C	14.58	2.576640	0.45902	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	.	.	.	2.57	0.579	0.17397	.	0.445755	0.19718	N	0.107641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.4666	0.16646	0.0:0.687:0.0:0.313	.	.	.	.	X	42	.	ENSP00000371326:E42X	E	-	1	0	KLRC2;RP11-277P12.6	10479729	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.293000	0.19029	-0.003000	0.14444	-1.206000	0.01644	GAA		0.368	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			A	10588462	C	A	10588462	4	1	40	1	0	0	0	0	0	1	0	0	8416	922	32	3	595	3	KLRC2	12	10588462	Nonsense_Mutation	SNP	C	TCGA-09-1659-01B-01W-0615-10		10588462	123263433	11	1979											
PRPF40B	25766	hgsc.bcm.edu	37	12	50024398	50024398	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr12:50024398C>T	ENST00000380281.1	+	1	72	c.8C>T	c.(7-9)cCa>cTa	p.P3L	PRPF40B_ENST00000548825.2_Missense_Mutation_p.P25L|PRPF40B_ENST00000261897.1_Intron			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	3	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.P3L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCCATGATGCCACCACCCTTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											61	45	50					12																	50024398		2203	4299	6502	48310665	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.8C>T	12.37:g.50024398C>T	ENSP00000369634:p.Pro3Leu		48310665	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	C	16.22	3.061695	0.55432	.	.	ENSG00000110844	ENST00000551063;ENST00000548825;ENST00000380281	T;T	0.32988	1.67;1.43	4.82	4.82	0.62117	.	0.000000	0.38326	N	0.001733	T	0.32556	0.0833	N	0.08118	0	0.45330	D	0.99832	D;D	0.71674	0.998;0.997	D;D	0.78314	0.981;0.991	T	0.13361	-1.0512	9	.	.	.	-8.1688	13.5879	0.61942	0.0:1.0:0.0:0.0	.	3;3	Q6NWY9;Q6NWY9-3	PR40B_HUMAN;.	L	3;25;3	ENSP00000448073:P25L;ENSP00000369634:P3L	.	P	+	2	0	PRPF40B	48310665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.126000	0.57937	2.669000	0.90835	0.591000	0.81541	CCA		0.622	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		T	50024398	C	T	50024398	3	4	40	1	0	0	0	0	1	0	0	0	12575	594	21	2	10	2	PRPF40B	12	50024398	Missense_Mutation	SNP	C	TCGA-09-1659-01B-01W-0615-10	39435936	50024398	83827497	12	1980											
TP53	7157	hgsc.bcm.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*	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	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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)	TGGTGAGGCTCCCCTTTCTTG	0.567		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"	87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)	17											109	95	100					17																	7577058		2203	4300	6503	7517783	SO:0001587	stop_gained	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.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*		7517783	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577058	C	A	7577058	4	1	40	1	0	0	0	0	0	1	0	0	16381	864	30	3	406	3	TP53	17	7577058	Nonsense_Mutation	SNP	C	TCGA-09-1659-01B-01W-0615-10		7577058	73618152	13	1981											
KIF2B	84643	hgsc.bcm.edu	37	17	51902365	51902365	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr17:51902365G>T	ENST00000268919.4	+	1	2127	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	657					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K657N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGATCCAAAAGAAACTGAAAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	17											84	83	83					17																	51902365		2203	4300	6503	49257364	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1971G>T	17.37:g.51902365G>T	ENSP00000268919:p.Lys657Asn		49257364	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458350	0.26248	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73789	-0.78	5.65	-0.371	0.12525	.	1.209950	0.06129	N	0.670191	T	0.55577	0.1929	N	0.24115	0.695	0.26051	N	0.981485	B	0.28900	0.227	B	0.29353	0.101	T	0.48790	-0.9004	10	0.41790	T	0.15	.	0.6891	0.00888	0.2072:0.1512:0.3314:0.3103	.	657	Q8N4N8	KIF2B_HUMAN	N	657;545	ENSP00000268919:K657N	ENSP00000268919:K657N	K	+	3	2	KIF2B	49257364	0.967000	0.33354	0.996000	0.52242	0.717000	0.41224	0.031000	0.13710	0.346000	0.23899	-0.182000	0.12963	AAG		0.458	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51902365	G	T	51902365	3	4	40	1	0	0	0	0	1	0	0	0	8298	933	33	3	1973	3	KIF2B	17	51902365	Missense_Mutation	SNP	G	TCGA-09-1659-01B-01W-0615-10	44325307	51902365	29292845	14	1982											
PIAS2	9063	hgsc.bcm.edu	37	18	44408069	44408069	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr18:44408069C>A	ENST00000585916.1	-	11	1360	c.1361G>T	c.(1360-1362)tGt>tTt	p.C454F	PIAS2_ENST00000545673.1_Missense_Mutation_p.C164F|PIAS2_ENST00000324794.7_Missense_Mutation_p.C454F	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	454					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.C454F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AGTCACTGAACAAGGCTTACT	0.383																																																1	Substitution - Missense(1)	ovary(1)	18											84	72	76					18																	44408069		2203	4300	6503	42662067	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1361G>T	18.37:g.44408069C>A	ENSP00000465676:p.Cys454Phe		42662067	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328418	0.41197	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.42900	0.96;1.53	5.49	4.6	0.57074	.	0.353403	0.33075	N	0.005318	T	0.33118	0.0852	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.23650	0.04;0.084;0.069;0.089	B;B;B;B	0.25614	0.032;0.058;0.062;0.045	T	0.09378	-1.0677	10	0.09843	T	0.71	-4.8687	15.8279	0.78727	0.1369:0.8631:0.0:0.0	.	164;454;454;454	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	F	454;454;164;454	ENSP00000443238:C164F;ENSP00000317163:C454F	ENSP00000262161:C454F	C	-	2	0	PIAS2	42662067	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.797000	0.47877	1.402000	0.46780	0.655000	0.94253	TGT		0.383	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		A	44408069	C	A	44408069	3	1	40	1	0	0	0	0	1	0	0	0	11876	478	17	3	595	3	PIAS2	18	44408069	Missense_Mutation	SNP	C	TCGA-09-1659-01B-01W-0615-10		44408069	33669179	15	1983											
ZIM2	23619	hgsc.bcm.edu	37	19	57293433	57293433	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr19:57293433G>T	ENST00000391708.3	-	10	1076	c.534C>A	c.(532-534)ttC>ttA	p.F178L	ZIM2_ENST00000599935.1_Missense_Mutation_p.F178L|ZIM2_ENST00000221722.5_Missense_Mutation_p.F178L|ZIM2_ENST00000593711.1_Missense_Mutation_p.F178L|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.F178L|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	178	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F178L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GCACATCCTCGAAGGTCACCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											173	151	158					19																	57293433		2203	4300	6503	61985245	SO:0001583	missense	23619			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.534C>A	19.37:g.57293433G>T	ENSP00000375589:p.Phe178Leu		61985245	Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342375	0.24339	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.07114	3.22;3.22	5.21	-3.62	0.04543	Krueppel-associated box (4);	.	.	.	.	T	0.24890	0.0604	M	0.86502	2.82	.	.	.	D	0.58268	0.982	D	0.68483	0.958	T	0.13469	-1.0508	8	0.72032	D	0.01	.	6.3876	0.21569	0.4783:0.0:0.4029:0.1188	.	178	Q9NZV7	ZIM2_HUMAN	L	178	ENSP00000375589:F178L;ENSP00000221722:F178L	ENSP00000221722:F178L	F	-	3	2	ZIM2	61985245	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.126000	0.03254	-0.902000	0.03886	-1.731000	0.00696	TTC		0.498	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			T	57293433	G	T	57293433	3	4	40	1	0	0	0	0	1	0	0	0	17684	1049	37	3	1061	3	ZIM2	19	57293433	Missense_Mutation	SNP	G	TCGA-09-1659-01B-01W-0615-10		57293433	1835550	16	1984											
CEP250	11190	hgsc.bcm.edu	37	20	34050331	34050331	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1659-01B-01W-0615-10	TCGA-09-1659-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8e77bdbb-b279-41be-be29-ab9485520a56	307cb370-73b2-4a33-b44a-d09add8738a8	g.chr20:34050331G>A	ENST00000397527.1	+	4	859	c.139G>A	c.(139-141)Gag>Aag	p.E47K	CEP250_ENST00000397524.1_Missense_Mutation_p.E47K|CEP250_ENST00000342580.4_Missense_Mutation_p.E47K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	47					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E47K(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAACTCCCAGGAGGCCCAGCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	20											30	30	30					20																	34050331		2200	4299	6499	33513745	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.139G>A	20.37:g.34050331G>A	ENSP00000380661:p.Glu47Lys		33513745	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413497	0.96072	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.50813	2.57;2.64;0.73;1.68	5.12	5.12	0.69794	.	0.000000	0.56097	D	0.000031	T	0.68677	0.3027	M	0.75264	2.295	0.47659	D	0.999488	D	0.76494	0.999	D	0.85130	0.997	T	0.72087	-0.4396	10	0.87932	D	0	.	15.5668	0.76300	0.0:0.0:1.0:0.0	.	47	Q9BV73	CP250_HUMAN	K	47	ENSP00000380661:E47K;ENSP00000341541:E47K;ENSP00000380658:E47K;ENSP00000413827:E47K	ENSP00000341541:E47K	E	+	1	0	CEP250	33513745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.060000	0.76692	2.639000	0.89480	0.650000	0.86243	GAG		0.597	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		A	34050331	G	A	34050331	3	1	40	1	0	0	0	0	1	0	0	0	3252	1175	41	2	141	2	CEP250	20	34050331	Missense_Mutation	SNP	G	TCGA-09-1659-01B-01W-0615-10		34050331	28975189	17	1985											
ZNF691	51058	hgsc.bcm.edu	37	1	43317461	43317461	+	Missense_Mutation	SNP	C	C	G	rs567618547		TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr1:43317461C>G	ENST00000372506.1	+	4	1172	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	ZNF691_ENST00000372504.1_Missense_Mutation_p.Q300E|ZNF691_ENST00000372502.1_Missense_Mutation_p.Q300E|ZNF691_ENST00000397044.3_Missense_Mutation_p.Q309E|ZNF691_ENST00000372508.3_Missense_Mutation_p.Q278E|ZNF691_ENST00000372507.1_Missense_Mutation_p.Q278E	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	141						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q278E(1)		large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTGGGCGAACAGGCTGGGAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											29	33	31					1																	43317461		2202	4300	6502	43090048	SO:0001583	missense	51058				CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"Zinc fingers, C2H2-type"	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.832C>G	1.37:g.43317461C>G	ENSP00000361584:p.Gln278Glu		43090048	A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	37	CCDS476.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985841	0.74589	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000372502	T;T;T;T;T;T	0.08458	3.12;3.12;3.12;3.09;3.09;3.09	5.06	4.06	0.47325	.	.	.	.	.	T	0.05227	0.0139	N	0.03194	-0.395	0.27688	N	0.94622	P	0.38504	0.634	B	0.41236	0.351	T	0.22103	-1.0226	9	0.87932	D	0	0.5834	10.0627	0.42284	0.2003:0.7997:0.0:0.0	.	309	B4DJR7	.	E	278;278;278;309;300;300	ENSP00000361586:Q278E;ENSP00000361585:Q278E;ENSP00000361584:Q278E;ENSP00000380237:Q309E;ENSP00000361582:Q300E;ENSP00000361580:Q300E	ENSP00000361580:Q300E	Q	+	1	0	ZNF691	43090048	0.675000	0.27558	0.945000	0.38365	0.841000	0.47740	0.107000	0.15375	2.736000	0.93811	0.557000	0.71058	CAG		0.537	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		G	43317461	C	G	43317461	3	3	41	1	0	0	0	0	1	0	0	0	18096	479	17	3	834	3	ZNF691	1	43317461	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10		43317461	205933160	1	1986											
CRP	1401	hgsc.bcm.edu	37	1	159683683	159683683	+	Missense_Mutation	SNP	C	C	T	rs146258487	byFrequency	TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr1:159683683C>T	ENST00000255030.5	-	2	410	c.307G>A	c.(307-309)Gag>Aag	p.E103K	CRP_ENST00000368110.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000368112.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	103	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)	p.E103K(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	TCAGGAACCTCGAATAATATT	0.463													C|||	5	0.000998403	0.0038	0	5008	,	,		19332	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1						C	LYS/GLU	4,4402	8.1+/-20.4	0,4,2199	110	109	109		307	-9.5	0	1	dbSNP_134	109	0,8600		0,0,4300	yes	missense	CRP	NM_000567.2	56	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	103/225	159683683	4,13002	2203	4300	6503	157950307	SO:0001583	missense	1401			M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.307G>A	1.37:g.159683683C>T	ENSP00000255030:p.Glu103Lys		157950307	A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	CCDS30911.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	1.205	-0.631264	0.03584	9.08E-4	0.0	ENSG00000132693	ENST00000255030	T	0.58210	0.35	4.73	-9.47	0.00594	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.320080	0.04710	N	0.417432	T	0.02688	0.0081	N	0.00483	-1.445	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.03025	-1.1081	10	0.02654	T	1	1.5928	3.2907	0.06948	0.083:0.2218:0.232:0.4631	.	103	P02741	CRP_HUMAN	K	103	ENSP00000255030:E103K	ENSP00000255030:E103K	E	-	1	0	CRP	157950307	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.307000	0.08167	-1.960000	0.01017	-1.608000	0.00805	GAG		0.463	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		T	159683683	C	T	159683683	3	4	41	1	0	0	0	0	1	0	0	0	3895	893	31	1	371	1	CRP	1	159683683	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10	116366222	159683683	89566938	2	1987											
CHML	1122	hgsc.bcm.edu	37	1	241797187	241797187	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr1:241797187G>A	ENST00000366553.1	-	1	2045	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	628					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.P628S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTGGTTCCAGGAGCCTCTGGC	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											148	155	152					1																	241797187		2203	4299	6502	239863810	SO:0001583	missense	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1882C>T	1.37:g.241797187G>A	ENSP00000355511:p.Pro628Ser		239863810	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	0.280	-0.986950	0.02180	.	.	ENSG00000203668	ENST00000366553	D	0.87729	-2.29	4.55	-2.9	0.05648	.	1.182510	0.06378	N	0.714704	T	0.66799	0.2826	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.59408	-0.7460	9	0.02654	T	1	0.241	6.4577	0.21938	0.5583:0.0:0.3099:0.1318	.	628	P26374	RAE2_HUMAN	S	628	ENSP00000355511:P628S	ENSP00000355511:P628S	P	-	1	0	CHML	239863810	0.001000	0.12720	0.016000	0.15963	0.125000	0.20455	-0.591000	0.05753	-0.566000	0.06054	-0.122000	0.15005	CCT		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		A	241797187	G	A	241797187	3	1	41	1	0	0	0	0	1	0	0	0	3351	1174	41	2	92	2	CHML	1	241797187	Missense_Mutation	SNP	G	TCGA-09-1661-01B-01W-0615-10	82113504	241797187	7453434	3	1988											
DCTN1	1639	hgsc.bcm.edu	37	2	74596555	74596555	+	Silent	SNP	G	G	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr2:74596555G>T	ENST00000361874.3	-	14	1773	c.1456C>A	c.(1456-1458)Cgg>Agg	p.R486R	DCTN1_ENST00000409868.1_Silent_p.R469R|DCTN1_ENST00000394003.3_Silent_p.R479R|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000407639.2_Silent_p.R352R|DCTN1_ENST00000409438.1_Silent_p.R352R|DCTN1_ENST00000409240.1_Silent_p.R449R|DCTN1_ENST00000409567.3_Silent_p.R466R	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	486					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.R486R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGCTGCTCCCGCAGCTCCAGT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	2											87	89	88					2																	74596555		2203	4300	6503	74450063	SO:0001819	synonymous_variant	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1456C>A	2.37:g.74596555G>T			74450063	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	CCDS1939.1																																																																																				0.572	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		T	74596555	G	T	74596555	2	4	41	1	0	0	0	0	0	0	0	1	4306	1086	38	3		3	DCTN1	2	74596555	Silent	SNP	G	TCGA-09-1661-01B-01W-0615-10		74596555	168602818	4	1989											
NR4A2	4929	hgsc.bcm.edu	37	2	157184460	157184460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr2:157184460delT	ENST00000339562.4	-	5	1423	c.1061delA	c.(1060-1062)gagfs	p.E354fs	NR4A2_ENST00000426264.1_Frame_Shift_Del_p.E291fs|NR4A2_ENST00000429376.1_Frame_Shift_Del_p.E291fs|NR4A2_ENST00000409108.2_Frame_Shift_Del_p.E354fs|NR4A2_ENST00000539077.1_Frame_Shift_Del_p.E365fs|NR4A2_ENST00000409572.1_Frame_Shift_Del_p.E354fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	354	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E354fs*9(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGGAGAGGGCTCCTGTGGGCT	0.597																																																1	Deletion - Frameshift(1)	ovary(1)	2											28	28	28					2																	157184460		2203	4298	6501	156892706	SO:0001589	frameshift_variant	4929			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1061delA	2.37:g.157184460delT	ENSP00000344479:p.Glu354fs		156892706	Q16311|Q53RZ2|Q6NXU0	Frame_Shift_Del	DEL	ENST00000339562.4	37	CCDS2201.1																																																																																				0.597	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			-	157184460	T	-	157184460	7	5	41	1	0	1	0	1	0	0	0	0	10633	1551	54	0	751	0	NR4A2	2	157184460	Frame_Shift_Del	DEL	T	TCGA-09-1661-01B-01W-0615-10	82587905	157184460	86014913	5	1990											
SCN3A	6328	hgsc.bcm.edu	37	2	165947488	165947488	+	Silent	SNP	G	G	A			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr2:165947488G>A	ENST00000360093.3	-	28	5666	c.5175C>T	c.(5173-5175)gaC>gaT	p.D1725D	SCN3A_ENST00000283254.7_Silent_p.D1725D|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Silent_p.D1676D|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Silent_p.D208D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1725					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D1725D(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGGTCACAGTCGGGTGGTG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	2											159	158	159					2																	165947488		2203	4300	6503	165655734	SO:0001819	synonymous_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5175C>T	2.37:g.165947488G>A			165655734	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.463	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		A	165947488	G	A	165947488	2	1	41	1	0	0	0	0	0	0	0	1	13921	1020	36	2		2	SCN3A	2	165947488	Silent	SNP	G	TCGA-09-1661-01B-01W-0615-10	8763028	165947488	77251885	6	1991											
NCKAP1	10787	hgsc.bcm.edu	37	2	183848087	183848087	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr2:183848087C>A	ENST00000361354.4	-	11	1400	c.1028G>T	c.(1027-1029)cGc>cTc	p.R343L	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R349L	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	343					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R349L(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TAAAAACTTGCGTCTTTCTCT	0.343																																																1	Substitution - Missense(1)	ovary(1)	2											107	103	105					2																	183848087		2203	4300	6503	183556332	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1028G>T	2.37:g.183848087C>A	ENSP00000355348:p.Arg343Leu		183556332	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360365	0.95877	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.57273	0.41;0.41	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.70487	0.969;0.947	T	0.81722	-0.0803	10	0.87932	D	0	-6.3069	18.7206	0.91691	0.0:1.0:0.0:0.0	.	343;349	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	L	343;349	ENSP00000355348:R343L;ENSP00000354251:R349L	ENSP00000354251:R349L	R	-	2	0	NCKAP1	183556332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.417000	0.82017	0.555000	0.69702	CGC		0.343	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		A	183848087	C	A	183848087	3	1	41	1	0	0	0	0	1	0	0	0	10221	768	27	3	2442	3	NCKAP1	2	183848087	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10	17900599	183848087	59351286	7	1992											
ZNF804A	91752	hgsc.bcm.edu	37	2	185731113	185731113	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr2:185731113A>T	ENST00000302277.6	+	2	723	c.129A>T	c.(127-129)gaA>gaT	p.E43D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	43							metal ion binding (GO:0046872)	p.E43D(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTGAGAAGGAAAATACCATAG	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											61	60	60					2																	185731113		2203	4300	6503	185439358	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.129A>T	2.37:g.185731113A>T	ENSP00000303252:p.Glu43Asp		185439358	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826135	0.71143	.	.	ENSG00000170396	ENST00000302277	T	0.10382	2.88	5.68	2.49	0.30216	.	0.135350	0.34200	N	0.004164	T	0.11324	0.0276	N	0.24115	0.695	0.35790	D	0.822328	P	0.52316	0.952	P	0.51895	0.683	T	0.17167	-1.0378	10	0.87932	D	0	-10.2156	7.9518	0.30019	0.5338:0.0:0.4662:0.0	.	43	Q7Z570	Z804A_HUMAN	D	43	ENSP00000303252:E43D	ENSP00000303252:E43D	E	+	3	2	ZNF804A	185439358	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	0.762000	0.26503	0.251000	0.21505	-0.326000	0.08463	GAA		0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		T	185731113	A	T	185731113	3	4	41	1	0	0	0	0	1	0	0	0	18170	11	1	5	135	5	ZNF804A	2	185731113	Missense_Mutation	SNP	A	TCGA-09-1661-01B-01W-0615-10	1883026	185731113	57468260	8	1993											
COL6A3	1293	hgsc.bcm.edu	37	2	238266004	238266004	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr2:238266004C>T	ENST00000295550.4	-	23	7020	c.6568G>A	c.(6568-6570)Gga>Aga	p.G2190R	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1984R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1984R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1990R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1583R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1989R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2190	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2190R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCTCCAGGTCCTCCAGGTACT	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											251	246	248					2																	238266004		2203	4300	6503	237930743	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6568G>A	2.37:g.238266004C>T	ENSP00000295550:p.Gly2190Arg		237930743	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	9.732	1.162444	0.21538	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.04	-1.51	0.08664	.	1.051440	0.07491	N	0.905552	D	0.93680	0.7981	N	0.16656	0.425	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	D	0.87923	0.2705	10	0.18276	T	0.48	.	2.2573	0.04058	0.1379:0.4244:0.1391:0.2987	.	1583;1984;2190	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	2190;1989;1984;1583;1984;1990	ENSP00000295550:G2190R;ENSP00000315609:G1989R;ENSP00000315873:G1984R;ENSP00000418285:G1583R;ENSP00000386844:G1984R;ENSP00000295546:G1990R	ENSP00000295550:G2190R	G	-	1	0	COL6A3	237930743	0.000000	0.05858	0.002000	0.10522	0.937000	0.57800	-1.011000	0.03652	-0.283000	0.09115	-0.423000	0.05987	GGA		0.502	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238266004	C	T	238266004	3	4	41	1	0	0	0	0	1	0	0	0	3701	690	24	2	3053	2	COL6A3	2	238266004	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10	52534891	238266004	4933369	9	1994											
PBRM1	55193	hgsc.bcm.edu	37	3	52685780	52685780	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr3:52685780T>C	ENST00000296302.7	-	6	693	c.692A>G	c.(691-693)aAg>aGg	p.K231R	PBRM1_ENST00000410007.1_Missense_Mutation_p.K231R|PBRM1_ENST00000394830.3_Missense_Mutation_p.K231R|PBRM1_ENST00000409767.1_Missense_Mutation_p.K231R|PBRM1_ENST00000409057.1_Missense_Mutation_p.K231R|PBRM1_ENST00000356770.4_Missense_Mutation_p.K231R|PBRM1_ENST00000337303.4_Missense_Mutation_p.K231R|PBRM1_ENST00000409114.3_Missense_Mutation_p.K231R			Q86U86	PB1_HUMAN	polybromo 1	231	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K231R(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCAATGGTCTTGAGATCTAT	0.358			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	1	Substitution - Missense(1)	ovary(1)	3											144	137	140					3																	52685780		2203	4300	6503	52660820	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.692A>G	3.37:g.52685780T>C	ENSP00000296302:p.Lys231Arg		52660820	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	17.55	3.417069	0.62511	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.45	5.45	0.79879	Bromodomain (6);Bromodomain, conserved site (1);	0.049971	0.85682	D	0.000000	T	0.47021	0.1423	L	0.27944	0.81	0.51482	D	0.999926	B;B;D;B;B;B;B;B;D	0.67145	0.01;0.018;0.99;0.04;0.0;0.004;0.007;0.0;0.996	B;B;D;B;B;B;B;B;D	0.79108	0.032;0.041;0.989;0.047;0.001;0.026;0.044;0.003;0.992	T	0.41787	-0.9489	10	0.39692	T	0.17	-7.33	15.515	0.75815	0.0:0.0:0.0:1.0	.	231;231;231;231;231;231;231;231;231	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	231;231;231;231;231;231;231;231;231;175	ENSP00000349213:K231R;ENSP00000378307:K231R;ENSP00000296302:K231R;ENSP00000338302:K231R;ENSP00000386593:K231R;ENSP00000386529:K231R;ENSP00000386643:K231R;ENSP00000386601:K231R;ENSP00000387775:K231R;ENSP00000397662:K175R	ENSP00000296302:K231R	K	-	2	0	PBRM1	52660820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.768000	0.47645	2.056000	0.61249	0.533000	0.62120	AAG		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52685780	T	C	52685780	3	2	41	1	0	0	0	0	1	0	0	0	11491	1609	56	4	4308	4	PBRM1	3	52685780	Missense_Mutation	SNP	T	TCGA-09-1661-01B-01W-0615-10		52685780	145336650	10	1995											
FASTKD3	79072	hgsc.bcm.edu	37	5	7867785	7867785	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr5:7867785A>C	ENST00000264669.5	-	2	548	c.412T>G	c.(412-414)Tgt>Ggt	p.C138G	MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	138					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.C138G(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCACTTCACAAATTCGTTGT	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											59	55	57					5																	7867785		2203	4300	6503	7920785	SO:0001583	missense	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.412T>G	5.37:g.7867785A>C	ENSP00000264669:p.Cys138Gly		7920785	Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964676	0.34659	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.20738	2.05;2.05;2.05	4.43	4.43	0.53597	.	0.368727	0.31612	N	0.007341	T	0.20700	0.0498	M	0.64997	1.995	0.36648	D	0.877234	B	0.27823	0.19	B	0.25140	0.058	T	0.11842	-1.0571	10	0.26408	T	0.33	-6.0999	10.0944	0.42466	0.8316:0.1684:0.0:0.0	.	138	Q14CZ7	FAKD3_HUMAN	G	138;138;121	ENSP00000264669:C138G;ENSP00000426008:C138G;ENSP00000422443:C121G	ENSP00000264669:C138G	C	-	1	0	FASTKD3	7920785	0.994000	0.37717	0.230000	0.23976	0.853000	0.48598	3.348000	0.52209	1.867000	0.54127	0.533000	0.62120	TGT		0.423	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		C	7867785	A	C	7867785	3	2	41	1	0	0	0	0	1	0	0	0	5687	130	5	5	1600	5	FASTKD3	5	7867785	Missense_Mutation	SNP	A	TCGA-09-1661-01B-01W-0615-10		7867785	173047475	11	1996											
DDR1	780	hgsc.bcm.edu	37	6	30856768	30856768	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr6:30856768A>G	ENST00000324771.8	+	5	717	c.169A>G	c.(169-171)Act>Gct	p.T57A	DDR1_ENST00000376569.3_Missense_Mutation_p.T57A|DDR1_ENST00000508312.1_Missense_Mutation_p.T75A|DDR1_ENST00000376568.3_Missense_Mutation_p.T57A|DDR1_ENST00000376567.2_Missense_Mutation_p.T57A|DDR1_ENST00000376570.4_Missense_Mutation_p.T57A|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000454612.2_Missense_Mutation_p.T57A|DDR1_ENST00000513240.1_Missense_Mutation_p.T57A|DDR1_ENST00000452441.1_Missense_Mutation_p.T57A|DDR1_ENST00000376575.3_Missense_Mutation_p.T57A|DDR1_ENST00000418800.2_Missense_Mutation_p.T57A|DDR1_ENST00000446312.1_Missense_Mutation_p.T57A|DDR1_ENST00000361741.4_5'Flank			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	57	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T57A(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GTCAGATTCCACTGCCGCCCG	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											57	44	48					6																	30856768		1509	2708	4217	30964747	SO:0001583	missense	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.169A>G	6.37:g.30856768A>G	ENSP00000318217:p.Thr57Ala		30964747	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696397	0.68386	.	.	ENSG00000204580	ENST00000505066;ENST00000460944;ENST00000324771;ENST00000505534;ENST00000508317;ENST00000418800;ENST00000509639;ENST00000412274;ENST00000507901;ENST00000454612;ENST00000507046;ENST00000437124;ENST00000396342;ENST00000504651;ENST00000512694;ENST00000515233;ENST00000515881;ENST00000376569;ENST00000511510;ENST00000376575;ENST00000376570;ENST00000446312;ENST00000504927;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000512336;ENST00000421124;ENST00000512725;ENST00000504679;ENST00000503495;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;T;D;D;T;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-0.77;-5.23;-5.23;0.76;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23	5.08	5.08	0.68730	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	M	0.62016	1.91	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.996;0.995;0.999;0.996	D;D;D;D;D	0.87578	0.95;0.97;0.995;0.998;0.99	D	0.99860	1.1082	10	0.66056	D	0.02	.	12.7879	0.57516	1.0:0.0:0.0:0.0	.	57;83;75;57;57	Q08345-4;B7Z3A2;B7Z2K0;Q08345-5;Q08345	.;.;.;.;DDR1_HUMAN	A	57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;57;75;57;57;57;57;83;57;57	ENSP00000421189:T57A;ENSP00000426420:T57A;ENSP00000318217:T57A;ENSP00000420833:T57A;ENSP00000427369:T57A;ENSP00000407699:T57A;ENSP00000422331:T57A;ENSP00000392413:T57A;ENSP00000424703:T57A;ENSP00000406091:T57A;ENSP00000425713:T57A;ENSP00000394273:T57A;ENSP00000379631:T57A;ENSP00000424758:T57A;ENSP00000426229:T57A;ENSP00000422467:T57A;ENSP00000423492:T57A;ENSP00000365753:T57A;ENSP00000425113:T57A;ENSP00000365759:T57A;ENSP00000365754:T57A;ENSP00000405998:T57A;ENSP00000427597:T57A;ENSP00000390593:T57A;ENSP00000365752:T57A;ENSP00000405039:T57A;ENSP00000422442:T75A;ENSP00000421719:T57A;ENSP00000409682:T57A;ENSP00000422108:T57A;ENSP00000423906:T57A;ENSP00000423749:T83A;ENSP00000365751:T57A;ENSP00000427552:T57A	ENSP00000318217:T57A	T	+	1	0	DDR1	30964747	1.000000	0.71417	0.992000	0.48379	0.513000	0.34164	9.285000	0.95894	1.900000	0.55004	0.254000	0.18369	ACT		0.617	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		G	30856768	A	G	30856768	3	3	41	1	0	0	0	0	1	0	0	0	4336	159	6	4	175	4	DDR1	6	30856768	Missense_Mutation	SNP	A	TCGA-09-1661-01B-01W-0615-10		30856768	140258299	12	1997											
MAN1A1	4121	hgsc.bcm.edu	37	6	119526032	119526032	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr6:119526032G>C	ENST00000368468.3	-	7	1449	c.1008C>G	c.(1006-1008)aaC>aaG	p.N336K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	336					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N336K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CCCAGGGCCAGTTCCTTCCAA	0.448																																					Ovarian(136;8 1825 12608 33541 47587)											1	Substitution - Missense(1)	ovary(1)	6											68	67	67					6																	119526032		2203	4300	6503	119567731	SO:0001583	missense	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1008C>G	6.37:g.119526032G>C	ENSP00000357453:p.Asn336Lys		119567731	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580503	0.65992	.	.	ENSG00000111885	ENST00000368468	T	0.72942	-0.7	5.37	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71388	-0.4608	10	0.38643	T	0.18	-8.4707	9.0116	0.36144	0.3045:0.0:0.6955:0.0	.	336	P33908	MA1A1_HUMAN	K	336	ENSP00000357453:N336K	ENSP00000357453:N336K	N	-	3	2	MAN1A1	119567731	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.614000	0.36911	1.257000	0.44085	0.591000	0.81541	AAC		0.448	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		C	119526032	G	C	119526032	3	2	41	1	0	0	0	0	1	0	0	0	9210	1020	36	3	981	3	MAN1A1	6	119526032	Missense_Mutation	SNP	G	TCGA-09-1661-01B-01W-0615-10	88669264	119526032	51589035	13	1998											
TNFAIP3	7128	hgsc.bcm.edu	37	6	138195993	138195993	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr6:138195993T>G	ENST00000237289.4	+	3	373	c.307T>G	c.(307-309)Tgc>Ggc	p.C103G		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	103	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.C103G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TGACGGCAATTGCCTCATGCA	0.498			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	26	Whole gene deletion(25)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(25)|ovary(1)	6											91	72	79					6																	138195993		2203	4300	6503	138237686	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.307T>G	6.37:g.138195993T>G	ENSP00000237289:p.Cys103Gly		138237686	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624178	0.87560	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.77877	-1.13;-1.13	5.97	5.97	0.96955	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.87716	0.6247	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89978	0.4098	10	0.87932	D	0	-1.3152	15.0072	0.71522	0.0:0.0:0.0:1.0	.	103	P21580	TNAP3_HUMAN	G	103	ENSP00000401562:C103G;ENSP00000237289:C103G	ENSP00000237289:C103G	C	+	1	0	TNFAIP3	138237686	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.157000	0.77461	2.274000	0.75844	0.533000	0.62120	TGC		0.498	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			G	138195993	T	G	138195993	3	3	41	1	0	0	0	0	1	0	0	0	16274	1812	63	5	313	5	TNFAIP3	6	138195993	Missense_Mutation	SNP	T	TCGA-09-1661-01B-01W-0615-10	18669961	138195993	32919074	14	1999											
WNT2	7472	hgsc.bcm.edu	37	7	116960728	116960728	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr7:116960728C>T	ENST00000265441.3	-	2	502	c.203G>A	c.(202-204)gGc>gAc	p.G68D	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	68					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.G68D(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTCGGCCACGCCCTGGCTAAT	0.607																																																1	Substitution - Missense(1)	ovary(1)	7											72	57	62					7																	116960728		2203	4300	6503	116747964	SO:0001583	missense	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.203G>A	7.37:g.116960728C>T	ENSP00000265441:p.Gly68Asp		116747964	A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073445	0.76415	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	D;D	0.83591	-1.74;-1.74	5.28	5.28	0.74379	.	0.049046	0.85682	D	0.000000	D	0.95037	0.8393	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96911	0.9667	10	0.87932	D	0	.	18.2752	0.90080	0.0:1.0:0.0:0.0	.	68	P09544	WNT2_HUMAN	D	68	ENSP00000265441:G68D;ENSP00000419466:G68D	ENSP00000265441:G68D	G	-	2	0	WNT2	116747964	1.000000	0.71417	0.999000	0.59377	0.268000	0.26511	7.419000	0.80179	2.604000	0.88044	0.655000	0.94253	GGC		0.607	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		T	116960728	C	T	116960728	3	4	41	1	0	0	0	0	1	0	0	0	17386	739	26	2	895	2	WNT2	7	116960728	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10		116960728	42177935	15	2000											
GRM8	2918	hgsc.bcm.edu	37	7	126173408	126173408	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr7:126173408T>C	ENST00000339582.2	-	9	2836	c.2028A>G	c.(2026-2028)atA>atG	p.I676M	GRM8_ENST00000444921.2_Missense_Mutation_p.I676M|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.I676M			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	676					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)	p.I676M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCTGCTCAAATATTCGGTGGA	0.502										HNSCC(24;0.065)																																						1	Substitution - Missense(1)	ovary(1)	7											92	85	87					7																	126173408		2203	4300	6503	125960644	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2028A>G	7.37:g.126173408T>C	ENSP00000344173:p.Ile676Met		125960644	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144298	0.57044	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.90563	-2.69;-2.69;-2.69	5.82	5.82	0.92795	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.97265	0.9907	10	0.87932	D	0	.	15.3625	0.74492	0.0:0.0:0.0:1.0	.	676;676	O00222-2;O00222	.;GRM8_HUMAN	M	676	ENSP00000344173:I676M;ENSP00000409790:I676M;ENSP00000351142:I676M	ENSP00000344173:I676M	I	-	3	3	GRM8	125960644	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.500000	0.53318	2.234000	0.73211	0.533000	0.62120	ATA		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			C	126173408	T	C	126173408	3	2	41	1	0	0	0	0	1	0	0	0	6803	1396	49	4	760	4	GRM8	7	126173408	Missense_Mutation	SNP	T	TCGA-09-1661-01B-01W-0615-10	9212680	126173408	32965255	16	2001											
NRG1	3084	hgsc.bcm.edu	37	8	32505843	32505843	+	Intron	SNP	C	C	A	rs145849314	byFrequency	TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr8:32505843C>A	ENST00000405005.3	+	5	502				NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.P203T|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000523079.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGTGAGAACGCCCAAGTCAGC	0.488																																																0			8											85	72	77					8																	32505843		2203	4300	6503	32625385	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31440C>A	8.37:g.32505843C>A			32625385	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566691	0.45694	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	T	0.13196	2.61	5.77	5.77	0.91146	.	.	.	.	.	T	0.25754	0.0627	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.01729	-1.1286	9	0.54805	T	0.06	.	18.5428	0.91035	0.0:1.0:0.0:0.0	.	203;203	Q53F54;Q02297-10	.;.	T	203;163	ENSP00000433289:P203T	ENSP00000433289:P203T	P	+	1	0	NRG1	32625385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.561000	0.45905	2.885000	0.99019	0.655000	0.94253	CCC		0.488	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			A	32505843	C	A	32505843	1	1	41	0	1	0	0	0	0	0	0	0	10647	739	26	3		3	NRG1	8	32505843	Intron	SNP	C	TCGA-09-1661-01B-01W-0615-10		32505843	113858179	17	2002											
FABP4	2167	hgsc.bcm.edu	37	8	82391144	82391144	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr8:82391144C>T	ENST00000256104.4	-	4	450	c.355G>A	c.(355-357)Gtc>Atc	p.V119I	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	119					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)	p.V119I(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			CCTTTCATGACGCATTCCTAG	0.393																																					NSCLC(35;550 1252 19644 48360)											1	Substitution - Missense(1)	ovary(1)	8											168	139	149					8																	82391144		2203	4300	6503	82553699	SO:0001583	missense	2167			J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"Fatty acid binding protein family"	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.355G>A	8.37:g.82391144C>T	ENSP00000256104:p.Val119Ile		82553699	Q6IBA1	Missense_Mutation	SNP	ENST00000256104.4	37	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	C	7.130	0.579711	0.13686	.	.	ENSG00000170323	ENST00000256104	T	0.07908	3.15	4.93	-9.86	0.00473	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.948010	0.08883	N	0.879700	T	0.04182	0.0116	N	0.12663	0.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42548	-0.9445	10	0.35671	T	0.21	.	13.9321	0.64003	0.0:0.6698:0.1083:0.2219	.	119	P15090	FABP4_HUMAN	I	119	ENSP00000256104:V119I	ENSP00000256104:V119I	V	-	1	0	FABP4	82553699	0.000000	0.05858	0.113000	0.21522	0.302000	0.27658	-1.956000	0.01522	-2.104000	0.00843	-1.152000	0.01820	GTC		0.393	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		T	82391144	C	T	82391144	3	4	41	1	0	0	0	0	1	0	0	0	5359	536	19	1	47	1	FABP4	8	82391144	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10	49885301	82391144	63972878	18	2003											
MTSS1	9788	hgsc.bcm.edu	37	8	125580673	125580673	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr8:125580673T>C	ENST00000518547.1	-	7	1038	c.565A>G	c.(565-567)Att>Gtt	p.I189V	MTSS1_ENST00000378017.3_Missense_Mutation_p.I189V|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000325064.5_Missense_Mutation_p.I193V|MTSS1_ENST00000431961.2_5'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.I79V	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	189	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.I189V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CGTTCTTCAATCAAAGCCTTC	0.448																																					Esophageal Squamous(160;622 1893 3862 8546 12509)											1	Substitution - Missense(1)	ovary(1)	8											110	95	100					8																	125580673		2203	4300	6503	125649854	SO:0001583	missense	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.565A>G	8.37:g.125580673T>C	ENSP00000429064:p.Ile189Val		125649854	J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	CCDS6353.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	6.598|6.598|6.598	0.478798|0.478798|0.478798	0.12521|0.12521|0.12521	.|.|.	.|.|.	ENSG00000170873|ENSG00000170873|ENSG00000170873	ENST00000523179|ENST00000378017;ENST00000518547;ENST00000325064;ENST00000524090|ENST00000522162	.|T;T;T;T|.	.|0.32988|.	.|1.52;1.54;1.5;1.43|.	5.55|5.55|5.55	5.55|5.55|5.55	0.83447|0.83447|0.83447	.|IRSp53/MIM homology domain (IMD) (3);|.	.|0.072630|.	.|0.64402|.	.|D|.	.|0.000002|.	T|T|.	0.51702|0.51702|.	0.1690|0.1690|.	N|N|N	0.20445|0.20445|0.20445	0.575|0.575|0.575	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;B;B;B|.	.|0.33171|.	.|0.4;0.16;0.027;0.022|.	.|B;B;B;B|.	.|0.36244|.	.|0.191;0.22;0.024;0.022|.	T|T|.	0.48736|0.48736|.	-0.9009|-0.9009|.	5|10|.	.|0.22109|.	.|T|.	.|0.4|.	-18.4336|-18.4336|-18.4336	15.9844|15.9844|15.9844	0.80138|0.80138|0.80138	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|79;189;189;189|.	.|E7EWW5;A5YM41;O43312;O43312-4|.	.|.;.;MTSS1_HUMAN;.|.	G|V|W	36|189;189;193;79|183	.|ENSP00000367256:I189V;ENSP00000429064:I189V;ENSP00000322804:I193V;ENSP00000428319:I79V|.	.|ENSP00000322804:I193V|.	D|I|X	-|-|-	2|1|3	0|0|0	MTSS1|MTSS1|MTSS1	125649854|125649854|125649854	0.994000|0.994000|0.994000	0.37717|0.37717|0.37717	0.705000|0.705000|0.705000	0.30386|0.30386|0.30386	0.799000|0.799000|0.799000	0.45148|0.45148|0.45148	1.523000|1.523000|1.523000	0.35932|0.35932|0.35932	2.233000|2.233000|2.233000	0.73108|0.73108|0.73108	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATT|TGA		0.448	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		C	125580673	T	C	125580673	3	2	41	1	0	0	0	0	1	0	0	0	9962	1435	50	4	1734	4	MTSS1	8	125580673	Missense_Mutation	SNP	T	TCGA-09-1661-01B-01W-0615-10	43189529	125580673	20783349	19	2004											
KANK1	23189	hgsc.bcm.edu	37	9	738303	738303	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr9:738303C>A	ENST00000382303.1	+	12	4004	c.3352C>A	c.(3352-3354)Ctc>Atc	p.L1118I	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.L960I|KANK1_ENST00000382297.2_Missense_Mutation_p.L1118I	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1118					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.L960I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTGAACACCCTCCAGCACGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	9											76	57	64					9																	738303		2203	4300	6503	728303	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3352C>A	9.37:g.738303C>A	ENSP00000371740:p.Leu1118Ile		728303	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	8.855	0.945496	0.18356	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.37235	1.21;1.21;1.28	5.73	4.73	0.59995	.	0.138628	0.32314	N	0.006273	T	0.11922	0.0290	N	0.01686	-0.76	0.37092	D	0.899502	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.17433	0.018;0.006;0.004	T	0.26710	-1.0095	10	0.06236	T	0.91	13.4839	8.3508	0.32301	0.2706:0.6118:0.1177:0.0	.	164;30;1118	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	I	1118;164;1118;960;96;30	ENSP00000371740:L1118I;ENSP00000371734:L1118I;ENSP00000371730:L960I	ENSP00000371723:L30I	L	+	1	0	KANK1	728303	0.992000	0.36948	1.000000	0.80357	0.988000	0.76386	2.217000	0.42880	2.868000	0.98415	0.557000	0.71058	CTC		0.493	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		A	738303	C	A	738303	3	1	41	1	0	0	0	0	1	0	0	0	7976	681	24	3	3378	3	KANK1	9	738303	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10		738303	140475128	20	2005											
PDE6C	5146	hgsc.bcm.edu	37	10	95400690	95400690	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr10:95400690A>C	ENST00000371447.3	+	14	1889	c.1751A>C	c.(1750-1752)aAg>aCg	p.K584T		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	584					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.K584T(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GGAAGATTAAAGAAGTACTAC	0.353																																																1	Substitution - Missense(1)	ovary(1)	10											99	90	93					10																	95400690		2203	4300	6503	95390680	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1751A>C	10.37:g.95400690A>C	ENSP00000360502:p.Lys584Thr		95390680	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187486	0.57909	.	.	ENSG00000095464	ENST00000371447	D	0.81579	-1.51	5.2	5.2	0.72013	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	1.148130	0.06245	N	0.691061	D	0.87943	0.6305	L	0.52759	1.655	0.53005	D	0.999966	D	0.69078	0.997	D	0.65140	0.932	T	0.79579	-0.1745	10	0.62326	D	0.03	.	15.2292	0.73374	1.0:0.0:0.0:0.0	.	584	P51160	PDE6C_HUMAN	T	584	ENSP00000360502:K584T	ENSP00000360502:K584T	K	+	2	0	PDE6C	95390680	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.410000	0.66381	2.187000	0.69744	0.460000	0.39030	AAG		0.353	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		C	95400690	A	C	95400690	3	2	41	1	0	0	0	0	1	0	0	0	11647	72	3	5	1805	5	PDE6C	10	95400690	Missense_Mutation	SNP	A	TCGA-09-1661-01B-01W-0615-10		95400690	40134057	21	2006											
FAM111A	63901	hgsc.bcm.edu	37	11	58920846	58920846	+	Missense_Mutation	SNP	C	C	G	rs184251651		TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr11:58920846C>G	ENST00000528737.1	+	5	4523	c.1705C>G	c.(1705-1707)Cgt>Ggt	p.R569G	FAM111A_ENST00000361723.3_Missense_Mutation_p.R569G|FAM111A_ENST00000533703.1_Missense_Mutation_p.R569G|FAM111A_ENST00000531147.1_Missense_Mutation_p.R569G|FAM111A_ENST00000420244.1_Missense_Mutation_p.R569G			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	569	Interaction with SV40 large T antigen.		R -> H (in KCS2). {ECO:0000269|PubMed:23684011, ECO:0000269|PubMed:23996431, ECO:0000269|PubMed:24635597}.		defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R569G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAATGAGACTCGTAGTATCAT	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											139	137	137					11																	58920846		2201	4295	6496	58677422	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1705C>G	11.37:g.58920846C>G	ENSP00000434435:p.Arg569Gly		58677422	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	C	7.496	0.651729	0.14516	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.87	-9.43	0.00607	Peptidase cysteine/serine, trypsin-like (1);	1.656350	0.02840	N	0.127821	T	0.25232	0.0613	L	0.29908	0.895	0.09310	N	1	B	0.23937	0.094	B	0.15484	0.013	T	0.05903	-1.0857	10	0.26408	T	0.33	-15.5963	8.3329	0.32197	0.0929:0.5489:0.1892:0.1691	.	569	Q96PZ2	F111A_HUMAN	G	569	ENSP00000434435:R569G;ENSP00000406683:R569G;ENSP00000355264:R569G;ENSP00000433154:R569G;ENSP00000431631:R569G	ENSP00000355264:R569G	R	+	1	0	FAM111A	58677422	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.107000	0.10873	-1.660000	0.01486	-1.724000	0.00704	CGT		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		G	58920846	C	G	58920846	3	3	41	1	0	0	0	0	1	0	0	0	5399	884	31	3	1711	3	FAM111A	11	58920846	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10		58920846	76085670	22	2007											
DDIT3	1649	hgsc.bcm.edu	37	12	57910759	57910759	+	Missense_Mutation	SNP	C	C	T	rs536093041		TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr12:57910759C>T	ENST00000346473.3	-	4	522	c.343G>A	c.(343-345)Gct>Act	p.A115T	DDIT3_ENST00000552740.1_Missense_Mutation_p.A138T|DDIT3_ENST00000551116.1_Missense_Mutation_p.A138T|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000547303.1_Missense_Mutation_p.A115T|RN7SL312P_ENST00000582079.1_RNA	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	115	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.		A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A115T(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TGCTTTCCAGCCCGGGCTGGG	0.542			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)		Dom	yes		12	12q13.1-q13.2	1649	DNA-damage-inducible transcript 3		M	1	Substitution - Missense(1)	ovary(1)	12											140	149	146					12																	57910759		2203	4300	6503	56197026	SO:0001583	missense	1649			BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"C/EBP zeta"	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.343G>A	12.37:g.57910759C>T	ENSP00000340671:p.Ala115Thr		56197026	F8VS99	Missense_Mutation	SNP	ENST00000346473.3	37	CCDS8943.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573052	0.45902	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740;ENST00000547526	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.75	3.92	0.45320	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.255981	0.37809	N	0.001921	T	0.23965	0.0580	N	0.08118	0	0.27274	N	0.958282	B;B	0.13145	0.007;0.001	B;B	0.14578	0.011;0.002	T	0.18681	-1.0329	10	0.59425	D	0.04	-0.0817	11.2751	0.49161	0.0:0.8022:0.1274:0.0704	.	138;115	F8VS99;P35638	.;DDIT3_HUMAN	T	115;138;115;138;138	ENSP00000447188:A115T;ENSP00000448665:A138T;ENSP00000340671:A115T;ENSP00000447803:A138T	ENSP00000340671:A115T	A	-	1	0	DDIT3	56197026	0.943000	0.32029	1.000000	0.80357	0.780000	0.44128	0.720000	0.25896	0.894000	0.36317	0.655000	0.94253	GCT		0.542	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		T	57910759	C	T	57910759	3	4	41	1	0	0	0	0	1	0	0	0	4330	739	26	2	170	2	DDIT3	12	57910759	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10		57910759	75941136	23	2008											
ACACB	32	hgsc.bcm.edu	37	12	109623408	109623408	+	Missense_Mutation	SNP	C	C	T	rs145713657	byFrequency	TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr12:109623408C>T	ENST00000338432.7	+	12	1962	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	ACACB_ENST00000377854.5_Missense_Mutation_p.R615W|ACACB_ENST00000377848.3_Missense_Mutation_p.R615W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	615	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R615W(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCCACTGCACCGGCTGAAGGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	12						C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	74	64	67		1843	1.8	1	12	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACACB	NM_001093.3	101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	615/2459	109623408	3,13003	2203	4300	6503	108107791	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1843C>T	12.37:g.109623408C>T	ENSP00000341044:p.Arg615Trp		108107791	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	c	19.17	3.775682	0.70107	4.54E-4	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97831	-4.56;-4.56;-4.56	5.32	1.78	0.24846	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99414	1.0931	10	0.87932	D	0	.	13.6894	0.62535	0.5445:0.4555:0.0:0.0	.	615	O00763	ACACB_HUMAN	W	615	ENSP00000341044:R615W;ENSP00000367079:R615W;ENSP00000367085:R615W	ENSP00000341044:R615W	R	+	1	2	ACACB	108107791	0.999000	0.42202	1.000000	0.80357	0.899000	0.52679	0.761000	0.26489	0.658000	0.30925	0.556000	0.70494	CGG		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109623408	C	T	109623408	3	4	41	1	0	0	0	0	1	0	0	0	107	643	23	1	1885	1	ACACB	12	109623408	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10	51712649	109623408	24228487	24	2009											
SEC23A	10484	hgsc.bcm.edu	37	14	39514455	39514455	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr14:39514455C>T	ENST00000307712.6	-	16	2328	c.1811G>A	c.(1810-1812)cGt>cAt	p.R604H	SEC23A_ENST00000536508.1_Missense_Mutation_p.R502H|SEC23A_ENST00000537403.1_Missense_Mutation_p.R402H|SEC23A_ENST00000545328.2_Missense_Mutation_p.R575H	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	604					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.R604H(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAAATGGTGACGATAATATGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	14											87	82	83					14																	39514455		2203	4300	6503	38584206	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1811G>A	14.37:g.39514455C>T	ENSP00000306881:p.Arg604His		38584206	B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443261	0.96187	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	5.49	5.49	0.81192	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.96383	0.8820	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.96183	0.9132	10	0.54805	T	0.06	-16.3883	19.7347	0.96198	0.0:1.0:0.0:0.0	.	575;502;604	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	H	402;604;502;575	ENSP00000444193:R402H;ENSP00000306881:R604H;ENSP00000437715:R502H;ENSP00000445393:R575H	ENSP00000306881:R604H	R	-	2	0	SEC23A	38584206	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.760000	0.85248	2.746000	0.94184	0.655000	0.94253	CGT		0.368	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			T	39514455	C	T	39514455	3	4	41	1	0	0	0	0	1	0	0	0	13994	536	19	1	506	1	SEC23A	14	39514455	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10		39514455	67835085	25	2010											
ERN2	5347	hgsc.bcm.edu	37	16	23703610	23703610	+	IGR	SNP	A	A	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr16:23703610A>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.Y663N|ERN2_ENST00000256797.4_Missense_Mutation_p.Y763N	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.Y763N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAAAGCACGTAGTAGAACACG	0.567																																					Colon(12;240 564 27038 33155)											1	Substitution - Missense(1)	ovary(1)	16											75	73	74					16																	23703610		2197	4300	6497	23611111	SO:0001628	intergenic_variant	10595				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23703610A>T			23611111	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655775	0.88056	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.50001	0.76;0.76	5.65	5.65	0.86999	.	0.137817	0.50627	D	0.000113	T	0.64940	0.2644	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67883	-0.5555	10	0.87932	D	0	.	13.8429	0.63451	1.0:0.0:0.0:0.0	.	663;715	E7ETG2;A5YM65	.;.	N	763;663	ENSP00000256797:Y763N;ENSP00000413812:Y663N	ENSP00000256797:Y763N	Y	-	1	0	ERN2	23611111	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	8.905000	0.92613	2.146000	0.66826	0.533000	0.62120	TAC		0.567	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		T	23703610	A	T	23703610	1	4	41	0	1	0	0	0	0	0	0	0	5238	420	15	5		5	ERN2	16	23703610	IGR	SNP	A	TCGA-09-1661-01B-01W-0615-10		23703610	66651143	26	2011											
CACNG3	10368	hgsc.bcm.edu	37	16	24358116	24358116	+	Silent	SNP	G	G	A			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr16:24358116G>A	ENST00000005284.3	+	2	1475	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	91					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.Q91Q(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACTACGAACAGGACACAGCCG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	16											85	77	80					16																	24358116		2197	4300	6497	24265617	SO:0001819	synonymous_variant	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.273G>A	16.37:g.24358116G>A			24265617		Silent	SNP	ENST00000005284.3	37	CCDS10620.1																																																																																				0.567	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		A	24358116	G	A	24358116	2	1	41	1	0	0	0	0	0	0	0	1	2558	991	35	2		2	CACNG3	16	24358116	Silent	SNP	G	TCGA-09-1661-01B-01W-0615-10	654506	24358116	65996637	27	2012											
CES7	221223	hgsc.bcm.edu	37	16	55880571	55880571	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr16:55880571G>A	ENST00000290567.9	-	13	1641	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	CES5A_ENST00000521992.1_Missense_Mutation_p.S536F|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.S401F|CES5A_ENST00000520435.1_Missense_Mutation_p.S477F|CES5A_ENST00000319165.9_Missense_Mutation_p.S457F	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	507						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.S536Y(1)|p.S457Y(1)|p.S457F(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGCCACAGAGACAGGTCGTT	0.547																																																3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	16											172	174	173					16																	55880571		2198	4300	6498	54438072	SO:0001583	missense	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1520C>T	16.37:g.55880571G>A	ENSP00000290567:p.Ser507Phe		54438072	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	10.47	1.358338	0.24598	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	5.51	4.34	0.51931	Carboxylesterase, type B (1);	0.161766	0.29660	N	0.011523	T	0.04452	0.0122	N	0.12746	0.255	0.23192	N	0.998141	B;B	0.33073	0.0;0.396	B;B	0.31245	0.002;0.126	T	0.29181	-1.0020	10	0.66056	D	0.02	.	5.7829	0.18316	0.2254:0.0:0.7746:0.0	.	507;457	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	F	536;457;401;507;477;287	ENSP00000428864:S536F;ENSP00000324271:S457F;ENSP00000428571:S401F;ENSP00000290567:S507F;ENSP00000428887:S477F	ENSP00000290567:S507F	S	-	2	0	CES5A	54438072	0.977000	0.34250	0.847000	0.33407	0.073000	0.16967	2.197000	0.42696	2.741000	0.93983	0.655000	0.94253	TCT		0.547	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		A	55880571	G	A	55880571	3	1	41	1	0	0	0	0	1	0	0	0	3272	942	33	2	211	2	CES7	16	55880571	Missense_Mutation	SNP	G	TCGA-09-1661-01B-01W-0615-10	31522455	55880571	34474182	28	2013											
TP53	7157	hgsc.bcm.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		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"	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	17	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82	74	76					17																	7578290		2203	4300	6503	7519015	SO:0001630	splice_region_variant	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.560-1G>A	17.37:g.7578290C>T			7519015	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7578290	C	T	7578290	5	4	41	1	0	0	0	0	0	0	1	0	16381	695	24	2	735	2	TP53	17	7578290	Splice_Site	SNP	C	TCGA-09-1661-01B-01W-0615-10		7578290	73616920	29	2014											
FBXO47	494188	hgsc.bcm.edu	37	17	37101218	37101218	+	Missense_Mutation	SNP	T	T	A	rs112930651		TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr17:37101218T>A	ENST00000378079.2	-	7	987	c.788A>T	c.(787-789)cAa>cTa	p.Q263L		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	263								p.Q263L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTCACCATCTTGAGGAGATAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	17											124	117	119					17																	37101218		2203	4300	6503	34354744	SO:0001583	missense	494188				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.788A>T	17.37:g.37101218T>A	ENSP00000367319:p.Gln263Leu		34354744	B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435454	0.25813	.	.	ENSG00000204952	ENST00000378079	T	0.44083	0.93	5.47	4.39	0.52855	.	0.643940	0.16875	N	0.195954	T	0.18383	0.0441	N	0.08118	0	0.25090	N	0.990868	B	0.02656	0.0	B	0.01281	0.0	T	0.05484	-1.0882	10	0.27785	T	0.31	0.1487	2.0912	0.03657	0.1591:0.0866:0.166:0.5883	.	263	Q5MNV8	FBX47_HUMAN	L	263	ENSP00000367319:Q263L	ENSP00000367319:Q263L	Q	-	2	0	FBXO47	34354744	0.900000	0.30661	0.985000	0.45067	0.945000	0.59286	1.383000	0.34385	2.073000	0.62155	0.477000	0.44152	CAA		0.363	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		A	37101218	T	A	37101218	3	1	41	1	0	0	0	0	1	0	0	0	5756	1812	63	5	590	5	FBXO47	17	37101218	Missense_Mutation	SNP	T	TCGA-09-1661-01B-01W-0615-10	29522928	37101218	44093992	30	2015											
YIPF2	78992	hgsc.bcm.edu	37	19	11034080	11034080	+	Frame_Shift_Del	DEL	A	A	-			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr19:11034080delA	ENST00000586748.1	-	9	1010	c.838delT	c.(838-840)tacfs	p.Y280fs	YIPF2_ENST00000590329.1_Frame_Shift_Del_p.Y241fs|YIPF2_ENST00000253031.2_Frame_Shift_Del_p.Y280fs			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	280						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.Y280fs*>37(1)		cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						TGGAAGAAGTACAACTGCACA	0.647																																																1	Deletion - Frameshift(1)	ovary(1)	19											121	123	122					19																	11034080		2203	4300	6503	10895080	SO:0001589	frameshift_variant	78992			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.838delT	19.37:g.11034080delA	ENSP00000466055:p.Tyr280fs		10895080		Frame_Shift_Del	DEL	ENST00000586748.1	37	CCDS12251.1																																																																																				0.647	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		-	11034080	A	-	11034080	7	5	41	1	0	1	0	1	0	0	0	0	17478	391	14	0	116	0	YIPF2	19	11034080	Frame_Shift_Del	DEL	A	TCGA-09-1661-01B-01W-0615-10		11034080	48094903	31	2016											
TSHZ3	57616	hgsc.bcm.edu	37	19	31770182	31770182	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr19:31770182C>T	ENST00000240587.4	-	2	844	c.517G>A	c.(517-519)Gct>Act	p.A173T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	173					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A173T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCGTCTTAGCCATGGCGCTC	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											41	41	41					19																	31770182		2203	4300	6503	36462022	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.517G>A	19.37:g.31770182C>T	ENSP00000240587:p.Ala173Thr		36462022	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599156	0.87055	.	.	ENSG00000121297	ENST00000240587	T	0.15603	2.41	5.44	5.44	0.79542	.	0.000000	0.64402	U	0.000001	T	0.39545	0.1082	L	0.55990	1.75	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.04373	-1.0956	10	0.49607	T	0.09	-21.9219	19.2705	0.94008	0.0:1.0:0.0:0.0	.	173	Q63HK5	TSH3_HUMAN	T	173	ENSP00000240587:A173T	ENSP00000240587:A173T	A	-	1	0	TSHZ3	36462022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.543000	0.85770	0.655000	0.94253	GCT		0.642	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31770182	C	T	31770182	3	4	41	1	0	0	0	0	1	0	0	0	16625	739	26	2	2732	2	TSHZ3	19	31770182	Missense_Mutation	SNP	C	TCGA-09-1661-01B-01W-0615-10	20736102	31770182	27358801	32	2017											
TSHZ2	128553	hgsc.bcm.edu	37	20	51873045	51873045	+	Silent	SNP	G	G	A	rs538141535		TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr20:51873045G>A	ENST00000371497.5	+	2	3935	c.3048G>A	c.(3046-3048)acG>acA	p.T1016T	TSHZ2_ENST00000603338.2_Silent_p.T1013T|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.T1013T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1016					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1016T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAAGCAAAACGCACAGCAAGT	0.468													G|||	1	0.000199681	8e-04	0	5008	,	,		22050	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	20											132	119	123					20																	51873045		2203	4300	6503	51306452	SO:0001819	synonymous_variant	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3048G>A	20.37:g.51873045G>A			51306452	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	CCDS33490.1																																																																																				0.468	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		A	51873045	G	A	51873045	2	1	41	1	0	0	0	0	0	0	0	1	16624	1074	38	1		1	TSHZ2	20	51873045	Silent	SNP	G	TCGA-09-1661-01B-01W-0615-10		51873045	11152475	33	2018											
ABCG1	9619	hgsc.bcm.edu	37	21	43708395	43708395	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr21:43708395G>T	ENST00000361802.2	+	10	1378	c.1233G>T	c.(1231-1233)agG>agT	p.R411S	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.R401S|ABCG1_ENST00000398437.1_Missense_Mutation_p.R557S|ABCG1_ENST00000340588.4_Missense_Mutation_p.R519S|ABCG1_ENST00000343687.3_Missense_Mutation_p.R410S|ABCG1_ENST00000398449.3_Missense_Mutation_p.R399S|ABCG1_ENST00000347800.2_Missense_Mutation_p.R396S	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	411					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.R411S(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)	TCTTCAAGAGGACCTTCCTCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	21											86	71	76					21																	43708395		2203	4300	6503	42581464	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.1233G>T	21.37:g.43708395G>T	ENSP00000354995:p.Arg411Ser		42581464	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.681890|3.681890	0.68042|0.68042	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161|ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.|T;T;T;T;T;T;T	.|0.81163	.|-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.18|4.18	1.26|1.26	0.21427|0.21427	.|ABC-2 type transporter (1);	.|0.115669	.|0.53938	.|D	.|0.000044	D|D	0.89294|0.89294	0.6674|0.6674	M|M	0.90922|0.90922	3.16|3.16	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D;P;D;D;D	.|0.64830	.|0.994;0.986;0.809;0.986;0.986;0.989	.|D;D;P;D;D;D	.|0.72625	.|0.934;0.923;0.633;0.952;0.923;0.978	D|D	0.86954|0.86954	0.2087|0.2087	5|9	.|.	.|.	.|.	-17.2791|-17.2791	7.7356|7.7356	0.28812|0.28812	0.5237:0.0:0.4763:0.0|0.5237:0.0:0.4763:0.0	.|.	.|422;410;411;399;396;401	.|B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.|.;.;ABCG1_HUMAN;.;.;.	Y|S	147;135;135|401;396;399;411;410;557;519	.|ENSP00000381475:R401S;ENSP00000291524:R396S;ENSP00000381467:R399S;ENSP00000354995:R411S;ENSP00000339744:R410S;ENSP00000381464:R557S;ENSP00000343820:R519S	.|.	D|R	+|+	1|3	0|2	ABCG1|ABCG1	42581464|42581464	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	1.196000|1.196000	0.32198|0.32198	0.032000|0.032000	0.15435|0.15435	0.460000|0.460000	0.39030|0.39030	GAC|AGG		0.582	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		T	43708395	G	T	43708395	3	4	41	1	0	0	0	0	1	0	0	0	68	1165	41	3	1439	3	ABCG1	21	43708395	Missense_Mutation	SNP	G	TCGA-09-1661-01B-01W-0615-10		43708395	4421500	34	2019											
TOM1	10043	hgsc.bcm.edu	37	22	35717995	35717995	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chr22:35717995A>C	ENST00000449058.2	+	3	306	c.181A>C	c.(181-183)Aat>Cat	p.N61H	TOM1_ENST00000425375.1_Missense_Mutation_p.N61H|TOM1_ENST00000436462.2_Intron|TOM1_ENST00000411850.1_Missense_Mutation_p.N61H|TOM1_ENST00000447733.1_Missense_Mutation_p.N28H|TOM1_ENST00000382034.5_5'UTR	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	61	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)	p.N61H(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						AATCGTGGGGAATAAGAACTT	0.527																																																1	Substitution - Missense(1)	ovary(1)	22											128	109	116					22																	35717995		2203	4300	6503	34047995	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.181A>C	22.37:g.35717995A>C	ENSP00000394466:p.Asn61His		34047995	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.389309	0.82902	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000450839;ENST00000451197;ENST00000443206	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.03	5.03	0.67393	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.51914	1.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	T	0.07366	-1.0776	10	0.30078	T	0.28	-13.3426	14.7793	0.69754	1.0:0.0:0.0:0.0	.	61;61;61;61	O60784-3;B4DKQ5;O60784-2;O60784	.;.;.;TOM1_HUMAN	H	28;61;61;61;61;61;61;28	ENSP00000398876:N28H;ENSP00000393714:N61H;ENSP00000394466:N61H;ENSP00000413697:N61H;ENSP00000394924:N61H;ENSP00000389789:N28H	ENSP00000338422:N61H	N	+	1	0	TOM1	34047995	1.000000	0.71417	0.533000	0.28001	0.859000	0.49053	9.204000	0.95041	1.895000	0.54865	0.459000	0.35465	AAT		0.527	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		C	35717995	A	C	35717995	3	2	41	1	0	0	0	0	1	0	0	0	16351	246	9	5	191	5	TOM1	22	35717995	Missense_Mutation	SNP	A	TCGA-09-1661-01B-01W-0615-10		35717995	15586571	35	2020											
FAM47B	170062	hgsc.bcm.edu	37	X	34962096	34962096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chrX:34962096G>A	ENST00000329357.5	+	1	1184	c.1148G>A	c.(1147-1149)tGg>tAg	p.W383*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	383								p.W383*(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						TACCATTTTTGGGAATCCTGT	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	X											45	43	43					X																	34962096		2202	4300	6502	34872017	SO:0001587	stop_gained	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.1148G>A	X.37:g.34962096G>A	ENSP00000328307:p.Trp383*		34872017	Q5JQN5|Q6PIG3	Nonsense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848768	0.32699	.	.	ENSG00000189132	ENST00000329357	.	.	.	0.401	-0.634	0.11516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	.	.	.	.	.	.	.	X	383	.	ENSP00000328307:W383X	W	+	2	0	FAM47B	34872017	0.030000	0.19436	0.001000	0.08648	0.001000	0.01503	-0.309000	0.08145	-0.478000	0.06823	-0.472000	0.04984	TGG		0.552	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		A	34962096	G	A	34962096	4	1	41	1	0	0	0	0	0	1	0	0	5570	1357	47	2	1150	2	FAM47B	23	34962096	Nonsense_Mutation	SNP	G	TCGA-09-1661-01B-01W-0615-10		34962096	120308464	36	2021											
ARMCX2	9823	hgsc.bcm.edu	37	X	100912313	100912313	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chrX:100912313A>C	ENST00000328766.5	-	5	715	c.262T>G	c.(262-264)Tct>Gct	p.S88A	ARMCX2_ENST00000356824.4_Missense_Mutation_p.S88A|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.S88A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	88	Ala-rich.					integral component of membrane (GO:0016021)		p.S88A(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCCAGAGCAGAGGCTTCATCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											51	47	48					X																	100912313		2203	4300	6503	100798969	SO:0001583	missense	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.262T>G	X.37:g.100912313A>C	ENSP00000331662:p.Ser88Ala		100798969	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598886	0.28445	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824;ENST00000413506;ENST00000433318;ENST00000440675;ENST00000458024	T;T;T;T;T	0.47528	1.36;1.36;1.36;0.84;0.84	4.54	1.86	0.25419	.	0.000000	0.35525	N	0.003156	T	0.31544	0.0800	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.19549	-1.0302	10	0.09590	T	0.72	-11.0854	7.2838	0.26326	0.6467:0.0:0.0:0.3533	.	88	Q7L311	ARMX2_HUMAN	A	88	ENSP00000331662:S88A;ENSP00000328631:S88A;ENSP00000349281:S88A;ENSP00000412481:S88A;ENSP00000410151:S88A	ENSP00000331662:S88A	S	-	1	0	ARMCX2	100798969	0.012000	0.17670	0.041000	0.18516	0.041000	0.13682	0.651000	0.24873	0.640000	0.30582	0.441000	0.28932	TCT		0.622	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		C	100912313	A	C	100912313	3	2	41	1	0	0	0	0	1	0	0	0	960	304	11	5	1640	5	ARMCX2	23	100912313	Missense_Mutation	SNP	A	TCGA-09-1661-01B-01W-0615-10	65950217	100912313	54358247	37	2022											
GPR112	139378	hgsc.bcm.edu	37	X	135390976	135390976	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1661-01B-01W-0615-10	TCGA-09-1661-10A-01W-0616-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	79de1282-1bd7-4f35-9b00-777f78c41ebc	0eb5de54-be9e-49fe-9279-cb00e76a8ce1	g.chrX:135390976A>C	ENST00000394143.1	+	4	331	c.40A>C	c.(40-42)Att>Ctt	p.I14L	GPR112_ENST00000370652.1_Missense_Mutation_p.I14L|GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000394141.1_Missense_Mutation_p.I14L|GPR112_ENST00000412101.1_Missense_Mutation_p.I14L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	14					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I14L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTATGGATTGATTCTCATGTC	0.299																																																1	Substitution - Missense(1)	ovary(1)	X											183	168	173					X																	135390976		2203	4300	6503	135218642	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.40A>C	X.37:g.135390976A>C	ENSP00000377699:p.Ile14Leu		135218642	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.038140	0.35989	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.38077	1.18;1.18;1.16;1.16	5.58	3.04	0.35103	.	.	.	.	.	T	0.19846	0.0477	N	0.19112	0.55	0.80722	D	1	P;P	0.46784	0.884;0.603	B;B	0.35470	0.203;0.1	T	0.02333	-1.1175	9	0.72032	D	0.01	.	9.0899	0.36603	0.6446:0.3553:0.0:0.0	.	14;14	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	14	ENSP00000377699:I14L;ENSP00000359686:I14L;ENSP00000416526:I14L;ENSP00000377697:I14L	ENSP00000359686:I14L	I	+	1	0	GPR112	135218642	1.000000	0.71417	0.132000	0.22025	0.845000	0.48019	1.205000	0.32308	0.275000	0.22094	0.441000	0.28932	ATT		0.299	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			C	135390976	A	C	135390976	3	2	41	1	0	0	0	0	1	0	0	0	6629	333	12	5	42	5	GPR112	23	135390976	Missense_Mutation	SNP	A	TCGA-09-1661-01B-01W-0615-10	34478663	135390976	19879584	38	2023											
LRRC7	57554	hgsc.bcm.edu	37	1	70502290	70502290	+	Missense_Mutation	SNP	T	T	G	rs375152543		TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr1:70502290T>G	ENST00000035383.5	+	18	2187	c.2157T>G	c.(2155-2157)aaT>aaG	p.N719K	LRRC7_ENST00000310961.5_Missense_Mutation_p.N724K|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	719						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.N719K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTACATAATTCTTTGTGGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	1						T	LYS/ASN	0,4406		0,0,2203	141	154	150		2157	3.5	1	1		150	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC7	NM_020794.2	94	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	benign	719/1538	70502290	1,13005	2203	4300	6503	70274878	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2157T>G	1.37:g.70502290T>G	ENSP00000035383:p.Asn719Lys		70274878	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930061	0.34096	0.0	1.16E-4	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.35973	1.28;1.35	5.77	3.47	0.39725	.	0.347847	0.33959	N	0.004386	T	0.14399	0.0348	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.05099	-1.0906	10	0.66056	D	0.02	.	7.503	0.27528	0.0:0.3019:0.0:0.6981	.	719	Q96NW7	LRRC7_HUMAN	K	724;719;542	ENSP00000309245:N724K;ENSP00000035383:N719K	ENSP00000035383:N719K	N	+	3	2	LRRC7	70274878	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.796000	0.26986	0.546000	0.28920	0.528000	0.53228	AAT		0.408	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		G	70502290	T	G	70502290	3	3	42	1	0	0	0	0	1	0	0	0	9020	1490	52	5	2227	5	LRRC7	1	70502290	Missense_Mutation	SNP	T	TCGA-09-1662-01A-01W-0615-10		70502290	178748331	1	2024											
S100A10	6281	hgsc.bcm.edu	37	1	151955649	151955649	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr1:151955649C>T	ENST00000368811.3	-	3	943	c.284G>A	c.(283-285)gGa>gAa	p.G95E	S100A10_ENST00000478574.1_5'Flank|S100A10_ENST00000368809.1_Missense_Mutation_p.G95E	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	95					cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)	p.G95V(1)|p.G95E(1)		breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTACTTCTTTCCCTTCTGCTT	0.483																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	1											195	203	200					1																	151955649		2203	4300	6503	150222273	SO:0001583	missense	6281			BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"S100 calcium binding proteins"	10487	protein-coding gene	gene with protein product	"annexin II tetramer (AIIt) p11 subunit"	114085	"S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))", "S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.284G>A	1.37:g.151955649C>T	ENSP00000357801:p.Gly95Glu		150222273	A8K4V8|P08206|Q5T1C5	Missense_Mutation	SNP	ENST00000368811.3	37	CCDS1008.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138505	0.56936	.	.	ENSG00000197747	ENST00000368811;ENST00000368809	T;T	0.05513	3.43;3.43	5.56	5.56	0.83823	.	0.422619	0.25720	N	0.028742	T	0.02888	0.0086	.	.	.	0.42141	D	0.991518	B	0.11235	0.004	B	0.12837	0.008	T	0.23655	-1.0182	9	0.72032	D	0.01	.	10.2653	0.43452	0.0:0.913:0.0:0.087	.	95	P60903	S10AA_HUMAN	E	95	ENSP00000357801:G95E;ENSP00000357799:G95E	ENSP00000357799:G95E	G	-	2	0	S100A10	150222273	0.375000	0.25089	0.984000	0.44739	0.982000	0.71751	2.801000	0.47908	2.890000	0.99128	0.655000	0.94253	GGA		0.483	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1	NM_002966		T	151955649	C	T	151955649	3	4	42	1	0	0	0	0	1	0	0	0	13775	855	30	2	13	2	S100A10	1	151955649	Missense_Mutation	SNP	C	TCGA-09-1662-01A-01W-0615-10	81453359	151955649	97294972	2	2025											
HEATR1	55127	hgsc.bcm.edu	37	1	236751309	236751309	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr1:236751309A>T	ENST00000366582.3	-	13	1679	c.1565T>A	c.(1564-1566)gTt>gAt	p.V522D	HEATR1_ENST00000366581.2_Missense_Mutation_p.V522D	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	522					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.V522D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCGGGCTAAAACAGCTTCTTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	1											117	110	113					1																	236751309		2203	4300	6503	234817932	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1565T>A	1.37:g.236751309A>T	ENSP00000355541:p.Val522Asp		234817932	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520362	0.85495	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66995	-0.24;-0.23	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.626741	0.16146	N	0.227477	T	0.73055	0.3538	L	0.40543	1.245	0.80722	D	1	P	0.43633	0.813	P	0.54856	0.762	T	0.74290	-0.3713	10	0.87932	D	0	.	15.8875	0.79261	1.0:0.0:0.0:0.0	.	522	Q9H583	HEAT1_HUMAN	D	522	ENSP00000355541:V522D;ENSP00000355540:V522D	ENSP00000355540:V522D	V	-	2	0	HEATR1	234817932	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.161000	0.77505	2.225000	0.72522	0.529000	0.55759	GTT		0.338	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		T	236751309	A	T	236751309	3	4	42	1	0	0	0	0	1	0	0	0	7027	43	2	5	5001	5	HEATR1	1	236751309	Missense_Mutation	SNP	A	TCGA-09-1662-01A-01W-0615-10	84795660	236751309	12499312	3	2026											
PRKD3	23683	hgsc.bcm.edu	37	2	37481412	37481412	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:37481412G>T	ENST00000379066.1	-	18	3196	c.2434C>A	c.(2434-2436)Ctg>Atg	p.L812M	PRKD3_ENST00000234179.2_Missense_Mutation_p.L812M			O94806	KPCD3_HUMAN	protein kinase D3	812	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.L812M(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACTTGAAGCAGATTGTTTATC	0.393																																					Melanoma(80;621 1355 8613 11814 51767)											2	Substitution - Missense(2)	ovary(2)	2											112	110	111					2																	37481412		2203	4300	6503	37334916	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2434C>A	2.37:g.37481412G>T	ENSP00000368356:p.Leu812Met		37334916	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646400	0.67358	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.42900	0.96;0.96	5.75	0.166	0.14999	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	0.56097	D	0.000021	T	0.37210	0.0995	N	0.11341	0.13	0.53688	D	0.999977	D	0.65815	0.995	D	0.66716	0.946	T	0.17561	-1.0365	10	0.49607	T	0.09	-8.0257	8.8309	0.35082	0.5895:0.0:0.4105:0.0	.	812	O94806	KPCD3_HUMAN	M	812	ENSP00000368356:L812M;ENSP00000234179:L812M	ENSP00000234179:L812M	L	-	1	2	PRKD3	37334916	1.000000	0.71417	0.509000	0.27700	0.934000	0.57294	2.540000	0.45727	0.078000	0.16900	0.655000	0.94253	CTG		0.393	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		T	37481412	G	T	37481412	3	4	42	1	0	0	0	0	1	0	0	0	12523	933	33	3	246	3	PRKD3	2	37481412	Missense_Mutation	SNP	G	TCGA-09-1662-01A-01W-0615-10		37481412	205717961	4	2027											
ABCG8	64241	hgsc.bcm.edu	37	2	44073368	44073368	+	Silent	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:44073368C>T	ENST00000272286.2	+	3	330	c.240C>T	c.(238-240)tgC>tgT	p.C80C		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	80	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.C80C(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCCCAGCTGCCAGAATTCTT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	2											63	61	62					2																	44073368		2203	4300	6503	43926872	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.240C>T	2.37:g.44073368C>T			43926872	Q53QN8	Silent	SNP	ENST00000272286.2	37	CCDS1815.1																																																																																				0.542	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		T	44073368	C	T	44073368	2	4	42	1	0	0	0	0	0	0	0	1	72	747	26	2		2	ABCG8	2	44073368	Silent	SNP	C	TCGA-09-1662-01A-01W-0615-10	6591956	44073368	199126005	5	2028											
IL1F10	84639	hgsc.bcm.edu	37	2	113831977	113831977	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:113831977A>T	ENST00000393197.2	+	2	525	c.104A>T	c.(103-105)gAc>gTc	p.D35V	IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Missense_Mutation_p.D35V	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	35						extracellular space (GO:0005615)		p.D35V(1)		endometrium(1)|lung(6)|ovary(1)	8						CCTGTTGCAGACAACTGCTGT	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											109	98	102					2																	113831977		2203	4300	6503	113548448	SO:0001583	missense	84639			AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"Interleukins and interleukin receptors"	15552	protein-coding gene	gene with protein product	"FIL1- theta", "interleukin-1 receptor antagonist FKSG75"	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.104A>T	2.37:g.113831977A>T	ENSP00000376893:p.Asp35Val		113548448	Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	a	11.91	1.779264	0.31502	.	.	ENSG00000136697	ENST00000341010;ENST00000393197	T;T	0.10573	2.86;2.86	4.4	4.4	0.53042	.	7739.210000	0.00166	N	0.000000	T	0.24547	0.0595	L	0.59436	1.845	0.80722	D	1	P	0.45634	0.863	P	0.51135	0.66	T	0.03662	-1.1015	10	0.30854	T	0.27	-24.1222	10.5846	0.45275	1.0:0.0:0.0:0.0	.	35	Q8WWZ1	IL1FA_HUMAN	V	35	ENSP00000341794:D35V;ENSP00000376893:D35V	ENSP00000341794:D35V	D	+	2	0	IL1F10	113548448	0.502000	0.26107	0.515000	0.27774	0.969000	0.65631	1.288000	0.33296	1.930000	0.55929	0.529000	0.55759	GAC		0.547	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		T	113831977	A	T	113831977	3	4	42	1	0	0	0	0	1	0	0	0	7652	275	10	5	110	5	IL1F10	2	113831977	Missense_Mutation	SNP	A	TCGA-09-1662-01A-01W-0615-10	69758609	113831977	129367396	6	2029											
EPB41L5	57669	hgsc.bcm.edu	37	2	120776784	120776784	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:120776784A>G	ENST00000263713.5	+	2	338	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	EPB41L5_ENST00000443124.1_Missense_Mutation_p.I42V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.I42V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.I42V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.I42V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	42					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.I42V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTCTAAGTCCATCATCACGTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											279	270	273					2																	120776784		2203	4300	6503	120493254	SO:0001583	missense	57669			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.124A>G	2.37:g.120776784A>G	ENSP00000263713:p.Ile42Val		120493254	Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	8.898	0.955562	0.18507	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.13	-7.33	0.01431	Band 4.1 domain (1);	0.626362	0.14054	N	0.344551	T	0.47154	0.1430	N	0.08118	0	0.39683	D	0.970935	B;B;B	0.15473	0.013;0.0;0.008	B;B;B	0.21360	0.034;0.001;0.015	T	0.44498	-0.9324	10	0.05525	T	0.97	.	17.4089	0.87480	0.4123:0.0:0.5877:0.0	.	42;42;42	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	V	42	ENSP00000263713:I42V;ENSP00000393856:I42V;ENSP00000329687:I42V;ENSP00000393722:I42V;ENSP00000390439:I42V	ENSP00000263713:I42V	I	+	1	0	EPB41L5	120493254	0.036000	0.19791	0.051000	0.19133	0.978000	0.69477	0.255000	0.18333	-1.395000	0.02074	-0.250000	0.11733	ATC		0.507	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		G	120776784	A	G	120776784	3	3	42	1	0	0	0	0	1	0	0	0	5157	217	8	4	126	4	EPB41L5	2	120776784	Missense_Mutation	SNP	A	TCGA-09-1662-01A-01W-0615-10	6944807	120776784	122422589	7	2030											
LRP2	4036	hgsc.bcm.edu	37	2	169985521	169985521	+	Splice_Site	SNP	A	A	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:169985521A>T	ENST00000263816.3	-	78	14086		c.e78+1			NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.?(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GTTAAAAATTACCTGTGCATA	0.323																																																1	Unknown(1)	ovary(1)	2											115	126	122					2																	169985521		2203	4300	6503	169693767	SO:0001630	splice_region_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13800+1T>A	2.37:g.169985521A>T			169693767	O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933252	0.73442	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3198	0.21211	0.7262:0.0:0.0725:0.2013	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169693767	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.085000	0.71343	2.178000	0.69098	0.451000	0.29950	.		0.323	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron	T	169985521	A	T	169985521	5	4	42	1	0	0	0	0	0	0	1	0	8956	405	14	5	173	5	LRP2	2	169985521	Splice_Site	SNP	A	TCGA-09-1662-01A-01W-0615-10	49208737	169985521	73213852	8	2031											
SACM1L	22908	hgsc.bcm.edu	37	3	45751049	45751049	+	Silent	SNP	T	T	C			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr3:45751049T>C	ENST00000389061.5	+	5	597	c.393T>C	c.(391-393)ttT>ttC	p.F131F	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Silent_p.F70F|SACM1L_ENST00000418611.1_Silent_p.F28F	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	131	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.F131F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TGGATGGATTTTACTTTTCAA	0.353																																																1	Substitution - coding silent(1)	ovary(1)	3											124	118	120					3																	45751049		2203	4300	6503	45726053	SO:0001819	synonymous_variant	22908			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.393T>C	3.37:g.45751049T>C			45726053	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	CCDS33745.1																																																																																				0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		C	45751049	T	C	45751049	2	2	42	1	0	0	0	0	0	0	0	1	13806	1838	64	4		4	SACM1L	3	45751049	Silent	SNP	T	TCGA-09-1662-01A-01W-0615-10		45751049	152271381	9	2032											
CACNA1D	776	hgsc.bcm.edu	37	3	53810044	53810044	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr3:53810044T>G	ENST00000350061.5	+	35	4845	c.4334T>G	c.(4333-4335)aTc>aGc	p.I1445S	CACNA1D_ENST00000540742.1_Missense_Mutation_p.I337S|CACNA1D_ENST00000288139.4_Missense_Mutation_p.I1465S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1430S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1445	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.I1465S(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCTATTTCATCAGTTTTTAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	3											155	161	159					3																	53810044		2203	4300	6503	53785084	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4334T>G	3.37:g.53810044T>G	ENSP00000288133:p.Ile1445Ser		53785084	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528849	0.64860	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17;-5.17	5.58	5.58	0.84498	Ion transport (1);	0.069247	0.56097	D	0.000035	D	0.99149	0.9706	M	0.85462	2.755	0.80722	D	1	D;B;P;P;P	0.89917	1.0;0.058;0.849;0.789;0.749	D;B;P;P;P	0.97110	1.0;0.087;0.704;0.643;0.862	D	0.99568	1.0970	10	0.66056	D	0.02	.	15.749	0.77969	0.0:0.0:0.0:1.0	.	1430;337;1138;1445;1465	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	S	1445;1465;1430;1138;337	ENSP00000288133:I1445S;ENSP00000288139:I1465S;ENSP00000409174:I1430S;ENSP00000418014:I1138S;ENSP00000438229:I337S	ENSP00000288139:I1465S	I	+	2	0	CACNA1D	53785084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.120000	0.65058	0.528000	0.53228	ATC		0.483	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		G	53810044	T	G	53810044	3	3	42	1	0	0	0	0	1	0	0	0	2541	1435	50	5	4644	5	CACNA1D	3	53810044	Missense_Mutation	SNP	T	TCGA-09-1662-01A-01W-0615-10	8058995	53810044	144212386	10	2033											
GTF2H4	2968	hgsc.bcm.edu	37	6	30879920	30879920	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr6:30879920A>G	ENST00000259895.4	+	10	1178	c.955A>G	c.(955-957)Acg>Gcg	p.T319A	GTF2H4_ENST00000376316.2_Missense_Mutation_p.T319A|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000321897.5_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	319					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T319A(1)		breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GTATGCCTACACGGGTGAGGC	0.557								Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	6											51	51	51					6																	30879920		1509	2707	4216	30987899	SO:0001583	missense	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.955A>G	6.37:g.30879920A>G	ENSP00000259895:p.Thr319Ala		30987899	B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.481497	0.63849	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	T;T	0.54675	0.56;0.56	5.29	5.29	0.74685	.	0.000000	0.64402	U	0.000001	T	0.74261	0.3693	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82065	-0.0642	10	0.87932	D	0	-15.3467	13.184	0.59670	1.0:0.0:0.0:0.0	.	325;319	B4DNU0;Q92759	.;TF2H4_HUMAN	A	319	ENSP00000259895:T319A;ENSP00000365493:T319A	ENSP00000259895:T319A	T	+	1	0	GTF2H4	30987899	1.000000	0.71417	0.958000	0.39756	0.471000	0.32888	8.246000	0.89828	2.012000	0.59069	0.528000	0.53228	ACG		0.557	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		G	30879920	A	G	30879920	3	3	42	1	0	0	0	0	1	0	0	0	6865	159	6	4	989	4	GTF2H4	6	30879920	Missense_Mutation	SNP	A	TCGA-09-1662-01A-01W-0615-10		30879920	140235147	11	2034											
MAP3K4	4216	hgsc.bcm.edu	37	6	161470751	161470751	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr6:161470751G>T	ENST00000392142.4	+	3	1595	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	MAP3K4_ENST00000366919.2_Missense_Mutation_p.D483Y|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D483Y|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D483Y	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	483					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.D483Y(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAACAGCTTCGACATCCAGTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	6											59	58	59					6																	161470751		2203	4300	6503	161390741	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1447G>T	6.37:g.161470751G>T	ENSP00000375986:p.Asp483Tyr		161390741	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	3.632	-0.075339	0.07184	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.42	0.203	0.15195	.	1.090690	0.06940	N	0.812539	T	0.03434	0.0099	N	0.19112	0.55	0.09310	N	1	P;P	0.36378	0.492;0.55	B;B	0.37550	0.253;0.187	T	0.23332	-1.0191	10	0.02654	T	1	-4.9614	4.1215	0.10108	0.1515:0.3255:0.4125:0.1105	.	483;483	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	Y	483	ENSP00000355886:D483Y;ENSP00000375986:D483Y;ENSP00000355887:D483Y;ENSP00000297332:D483Y	ENSP00000297332:D483Y	D	+	1	0	MAP3K4	161390741	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	0.482000	0.22276	-0.284000	0.09102	0.650000	0.86243	GAC		0.488	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			T	161470751	G	T	161470751	3	4	42	1	0	0	0	0	1	0	0	0	9252	1058	37	3	1457	3	MAP3K4	6	161470751	Missense_Mutation	SNP	G	TCGA-09-1662-01A-01W-0615-10	130590831	161470751	9644316	12	2035											
KRIT1	889	hgsc.bcm.edu	37	7	91865843	91865843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr7:91865843G>T	ENST00000340022.2	-	7	1387	c.369C>A	c.(367-369)taC>taA	p.Y123*	KRIT1_ENST00000394505.2_Nonsense_Mutation_p.Y123*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.Y123*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.Y123*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.Y123*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	123	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.Y123*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGGTATATGTGTATTTAGTAT	0.313																																																1	Substitution - Nonsense(1)	ovary(1)	7											86	91	89					7																	91865843		2203	4300	6503	91703779	SO:0001587	stop_gained	889			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.369C>A	7.37:g.91865843G>T	ENSP00000344668:p.Tyr123*		91703779	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Nonsense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	38	7.249770	0.98164	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017	.	.	.	5.17	2.78	0.32641	.	0.121049	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1958	0.37226	0.7827:0.0:0.2173:0.0	.	.	.	.	X	123	.	ENSP00000344668:Y123X	Y	-	3	2	KRIT1	91703779	0.059000	0.20769	1.000000	0.80357	0.971000	0.66376	0.551000	0.23361	0.311000	0.23014	-1.155000	0.01812	TAC		0.313	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			T	91865843	G	T	91865843	4	4	42	1	0	0	0	0	0	1	0	0	8445	1372	48	3	1893	3	KRIT1	7	91865843	Nonsense_Mutation	SNP	G	TCGA-09-1662-01A-01W-0615-10		91865843	67272820	13	2036											
POP7	10248	hgsc.bcm.edu	37	7	100304543	100304543	+	Silent	SNP	G	G	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr7:100304543G>A	ENST00000303151.4	+	2	352	c.90G>A	c.(88-90)ctG>ctA	p.L30L		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	30					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)	p.L30L(1)		endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCAGCCGCCTGCCCCGGAGAC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	7											61	69	66					7																	100304543		2203	4300	6503	100142479	SO:0001819	synonymous_variant	10248			U94316	CCDS5704.1	7q22	2012-05-21	2007-06-26		ENSG00000172336	ENSG00000172336			19949	protein-coding gene	gene with protein product	"ribonuclease P protein subunit p20"	606113	"processing of precursor 7, ribonuclease P subunit (S. cerevisiae)"			9630247	Standard	NM_005837		Approved	RPP20, RPP2	uc003uwh.4	O75817	OTTHUMG00000044311	ENST00000303151.4:c.90G>A	7.37:g.100304543G>A			100142479	A4D2E0|Q9BV74	Silent	SNP	ENST00000303151.4	37	CCDS5704.1																																																																																				0.607	POP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103070.1	NM_005837		A	100304543	G	A	100304543	2	1	42	1	0	0	0	0	0	0	0	1	12254	1306	46	2		2	POP7	7	100304543	Silent	SNP	G	TCGA-09-1662-01A-01W-0615-10	8438700	100304543	58834120	14	2037											
ZC3HAV1	56829	hgsc.bcm.edu	37	7	138732462	138732462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr7:138732462G>A	ENST00000242351.5	-	13	2903	c.2587C>T	c.(2587-2589)Cag>Tag	p.Q863*	ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q985*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	863	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.Q863*(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CTGTCGAACTGTGGAGGAGGG	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	7											154	150	151					7																	138732462		2203	4300	6503	138383002	SO:0001587	stop_gained	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2587C>T	7.37:g.138732462G>A	ENSP00000242351:p.Gln863*		138383002	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Nonsense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	34	5.346513	0.95807	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	.	.	.	5.23	-1.41	0.08941	.	2.744490	0.01433	N	0.014821	.	.	.	.	.	.	0.20074	N	0.999933	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2365	0.01954	0.1562:0.2436:0.2271:0.3732	.	.	.	.	X	863;985	.	ENSP00000242351:Q863X	Q	-	1	0	ZC3HAV1	138383002	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.849000	0.27723	0.039000	0.15632	-0.315000	0.08773	CAG		0.418	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		A	138732462	G	A	138732462	4	1	42	1	0	0	0	0	0	1	0	0	17575	1386	48	2	125	2	ZC3HAV1	7	138732462	Nonsense_Mutation	SNP	G	TCGA-09-1662-01A-01W-0615-10	38427919	138732462	20406201	15	2038											
MTDH	92140	hgsc.bcm.edu	37	8	98731334	98731334	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr8:98731334A>G	ENST00000336273.3	+	10	1766	c.1438A>G	c.(1438-1440)Acc>Gcc	p.T480A	MTDH_ENST00000519934.1_Missense_Mutation_p.T424A	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	480					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.T480A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TACCTCTAAAACCCGTCCAAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	8											80	87	84					8																	98731334		2203	4300	6503	98800510	SO:0001583	missense	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1438A>G	8.37:g.98731334A>G	ENSP00000338235:p.Thr480Ala		98800510	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	A	3.764	-0.049007	0.07407	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.39592	1.07;1.08	5.97	2.08	0.27032	.	0.923761	0.09271	N	0.825088	T	0.12860	0.0312	N	0.00841	-1.15	0.22701	N	0.998838	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	10	0.11182	T	0.66	0.9509	5.7095	0.17927	0.144:0.0:0.5797:0.2762	.	480	Q86UE4	LYRIC_HUMAN	A	480;424	ENSP00000338235:T480A;ENSP00000428168:T424A	ENSP00000338235:T480A	T	+	1	0	MTDH	98800510	0.999000	0.42202	0.989000	0.46669	0.970000	0.65996	1.239000	0.32719	0.094000	0.17404	-0.242000	0.12053	ACC		0.338	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			G	98731334	A	G	98731334	3	3	42	1	0	0	0	0	1	0	0	0	9917	43	2	4	1476	4	MTDH	8	98731334	Missense_Mutation	SNP	A	TCGA-09-1662-01A-01W-0615-10		98731334	47632688	16	2039											
ENPP2	5168	hgsc.bcm.edu	37	8	120596276	120596276	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr8:120596276C>T	ENST00000075322.6	-	16	1439	c.1381G>A	c.(1381-1383)Gtt>Att	p.V461I	ENPP2_ENST00000522826.1_Missense_Mutation_p.V461I|ENPP2_ENST00000427067.2_Missense_Mutation_p.V457I|ENPP2_ENST00000259486.6_Missense_Mutation_p.V513I|ENPP2_ENST00000522167.1_Missense_Mutation_p.V100I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	461					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V513I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTTATAAACATCCAAAGGT	0.333																																					Melanoma(20;305 879 2501 4818 31020)											1	Substitution - Missense(1)	ovary(1)	8											135	137	136					8																	120596276		2203	4300	6503	120665457	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1381G>A	8.37:g.120596276C>T	ENSP00000075322:p.Val461Ile		120665457	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021553	0.35701	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.74947	-0.69;-0.67;-0.89;-0.67;-0.67	5.74	3.91	0.45181	Alkaline-phosphatase-like, core domain (1);	0.748643	0.13191	N	0.406747	T	0.60996	0.2312	L	0.29908	0.895	0.35839	D	0.825883	B;B;B;B	0.22080	0.064;0.001;0.052;0.001	B;B;B;B	0.23275	0.029;0.002;0.045;0.003	T	0.55029	-0.8204	10	0.13853	T	0.58	.	10.6586	0.45690	0.133:0.7987:0.0:0.0684	.	461;461;513;100	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	I	513;457;100;461;461	ENSP00000259486:V513I;ENSP00000403315:V457I;ENSP00000429476:V100I;ENSP00000428291:V461I;ENSP00000075322:V461I	ENSP00000075322:V461I	V	-	1	0	ENPP2	120665457	0.986000	0.35501	1.000000	0.80357	0.991000	0.79684	2.007000	0.40883	0.718000	0.32166	0.655000	0.94253	GTT		0.333	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			T	120596276	C	T	120596276	3	4	42	1	0	0	0	0	1	0	0	0	5130	478	17	2	1329	2	ENPP2	8	120596276	Missense_Mutation	SNP	C	TCGA-09-1662-01A-01W-0615-10	21864942	120596276	25767746	17	2040											
PAPPA	5069	hgsc.bcm.edu	37	9	118950205	118950205	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr9:118950205C>A	ENST00000328252.3	+	2	1557	c.1188C>A	c.(1186-1188)gaC>gaA	p.D396E	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	396	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D396E(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGCTGGACGTGCTGGAGG	0.582																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	9											70	61	64					9																	118950205		2203	4300	6503	117990026	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1188C>A	9.37:g.118950205C>A	ENSP00000330658:p.Asp396Glu		117990026	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	5.477	0.272996	0.10349	.	.	ENSG00000182752	ENST00000328252	T	0.40476	1.03	5.99	1.6	0.23607	.	0.456357	0.28742	N	0.014290	T	0.11623	0.0283	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09729	-1.0661	10	0.09084	T	0.74	-7.9315	5.0226	0.14369	0.1325:0.2151:0.5436:0.1088	.	396	Q13219	PAPP1_HUMAN	E	396	ENSP00000330658:D396E	ENSP00000330658:D396E	D	+	3	2	PAPPA	117990026	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.278000	0.33179	0.425000	0.26087	-0.133000	0.14855	GAC		0.582	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		A	118950205	C	A	118950205	3	1	42	1	0	0	0	0	1	0	0	0	11432	535	19	3	1194	3	PAPPA	9	118950205	Missense_Mutation	SNP	C	TCGA-09-1662-01A-01W-0615-10		118950205	22263226	18	2041											
SLC2A8	29988	hgsc.bcm.edu	37	9	130162197	130162197	+	Silent	SNP	C	C	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr9:130162197C>G	ENST00000373371.3	+	4	527	c.438C>G	c.(436-438)tcC>tcG	p.S146S	SLC2A8_ENST00000373352.1_5'UTR|SLC2A8_ENST00000373360.3_Silent_p.S146S	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	146					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.S146S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TCTACATCTCCGAAATCGCCT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	9											94	95	95					9																	130162197		2203	4300	6503	129202018	SO:0001819	synonymous_variant	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.438C>G	9.37:g.130162197C>G			129202018	Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	C	0.846	-0.740085	0.03088	.	.	ENSG00000136856	ENST00000419132	.	.	.	5.15	-10.3	0.00346	.	.	.	.	.	T	0.41650	0.1168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58601	-0.7608	4	.	.	.	.	4.5316	0.12008	0.1246:0.2327:0.1259:0.5167	.	.	.	.	R	56	.	.	P	+	2	0	SLC2A8	129202018	0.000000	0.05858	0.005000	0.12908	0.306000	0.27790	-3.365000	0.00496	-4.721000	0.00035	-2.233000	0.00290	CCG		0.597	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		G	130162197	C	G	130162197	2	3	42	1	0	0	0	0	0	0	0	1	14554	639	23	3		3	SLC2A8	9	130162197	Silent	SNP	C	TCGA-09-1662-01A-01W-0615-10	11211992	130162197	11051234	19	2042											
TACC2	10579	hgsc.bcm.edu	37	10	123988996	123988996	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr10:123988996C>T	ENST00000369005.1	+	15	8372	c.8032C>T	c.(8032-8034)Ctc>Ttc	p.L2678F	TACC2_ENST00000360561.3_Missense_Mutation_p.L756F|TACC2_ENST00000368999.1_Missense_Mutation_p.L768F|TACC2_ENST00000358010.1_Missense_Mutation_p.L824F|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369004.3_Missense_Mutation_p.L768F|TACC2_ENST00000260733.3_Missense_Mutation_p.L756F|TACC2_ENST00000513429.1_Missense_Mutation_p.L824F|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.L2678F|TACC2_ENST00000453444.2_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2678					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.L2678F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCTCAGAAACTCCAGGTTTG	0.512																																																1	Substitution - Missense(1)	ovary(1)	10											231	243	239					10																	123988996		2203	4300	6503	123978986	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8032C>T	10.37:g.123988996C>T	ENSP00000358001:p.Leu2678Phe		123978986	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794630	0.70452	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000334433;ENST00000358010;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T	0.16457	2.76;2.48;2.76;2.48;2.83;2.39;2.83;2.34	5.78	4.88	0.63580	.	0.000000	0.32273	N	0.006333	T	0.30355	0.0762	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.98;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.918;0.999;0.999;0.999	T	0.02901	-1.1096	10	0.56958	D	0.05	-14.1764	13.0612	0.59008	0.0:0.9259:0.0:0.0741	.	768;756;756;824;2678	D6RAA5;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;TACC2_HUMAN	F	2678;824;2678;824;756;768;768;756	ENSP00000358001:L2678F;ENSP00000425062:L824F;ENSP00000334280:L2678F;ENSP00000350701:L824F;ENSP00000353763:L756F;ENSP00000357995:L768F;ENSP00000422815:L768F;ENSP00000260733:L756F	ENSP00000260733:L756F	L	+	1	0	TACC2	123978986	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.255000	0.58804	1.457000	0.47850	0.655000	0.94253	CTC		0.512	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123988996	C	T	123988996	3	4	42	1	0	0	0	0	1	0	0	0	15502	565	20	2	8158	2	TACC2	10	123988996	Missense_Mutation	SNP	C	TCGA-09-1662-01A-01W-0615-10		123988996	11545751	20	2043											
MKI67	4288	hgsc.bcm.edu	37	10	129903301	129903301	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr10:129903301G>T	ENST00000368654.3	-	13	7178	c.6803C>A	c.(6802-6804)aCa>aAa	p.T2268K	MKI67_ENST00000368653.3_Missense_Mutation_p.T1908K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2268	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T2268K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGTGTGTCCATAGC	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											299	271	281					10																	129903301		2203	4300	6503	129793291	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6803C>A	10.37:g.129903301G>T	ENSP00000357643:p.Thr2268Lys		129793291	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333757	0.41297	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03212	4.01;4.01	2.91	1.86	0.25419	.	0.419884	0.17486	N	0.172501	T	0.09069	0.0224	M	0.63843	1.955	0.09310	N	1	P;D;D	0.71674	0.939;0.998;0.998	P;D;D	0.71414	0.687;0.973;0.966	T	0.16188	-1.0411	10	0.07175	T	0.84	.	6.3958	0.21611	0.0:0.0:0.7079:0.2921	.	2267;1908;2268	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	2268;1908;2267	ENSP00000357643:T2268K;ENSP00000357642:T1908K	ENSP00000357642:T1908K	T	-	2	0	MKI67	129793291	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.107000	0.15375	1.618000	0.50286	0.655000	0.94253	ACA		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129903301	G	T	129903301	3	4	42	1	0	0	0	0	1	0	0	0	9598	1377	48	3	2979	3	MKI67	10	129903301	Missense_Mutation	SNP	G	TCGA-09-1662-01A-01W-0615-10	5914305	129903301	5631446	21	2044											
OR8D1	283159	hgsc.bcm.edu	37	11	124180320	124180320	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr11:124180320G>C	ENST00000357821.2	-	1	413	c.343C>G	c.(343-345)Ctg>Gtg	p.L115V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115V(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATGGCAGTCAGGAGGTAACCC	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											77	71	73					11																	124180320		2201	4299	6500	123685530	SO:0001583	missense	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.343C>G	11.37:g.124180320G>C	ENSP00000350474:p.Leu115Val		123685530	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.925640	0.52759	.	.	ENSG00000196341	ENST00000357821	T	0.01192	5.2	4.29	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29745	U	0.011309	T	0.09818	0.0241	H	0.97564	4.03	0.21184	N	0.999762	D	0.76494	0.999	D	0.65987	0.94	T	0.07751	-1.0756	10	0.87932	D	0	.	9.6181	0.39704	0.184:0.0:0.816:0.0	.	115	Q8WZ84	OR8D1_HUMAN	V	115	ENSP00000350474:L115V	ENSP00000350474:L115V	L	-	1	2	OR8D1	123685530	0.133000	0.22466	0.014000	0.15608	0.023000	0.10783	0.694000	0.25512	0.977000	0.38444	0.508000	0.49915	CTG		0.488	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		C	124180320	G	C	124180320	3	2	42	1	0	0	0	0	1	0	0	0	11231	991	35	3	586	3	OR8D1	11	124180320	Missense_Mutation	SNP	G	TCGA-09-1662-01A-01W-0615-10		124180320	10826196	22	2045											
C3AR1	719	hgsc.bcm.edu	37	12	8212521	8212521	+	Silent	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr12:8212521C>T	ENST00000307637.4	-	2	464	c.261G>A	c.(259-261)caG>caA	p.Q87Q		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	87					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.Q87Q(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CGTAGGGCCACTGTCCCTGGA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	12											113	92	99					12																	8212521		2203	4300	6503	8103788	SO:0001819	synonymous_variant	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.261G>A	12.37:g.8212521C>T			8103788	O43771|Q92868	Silent	SNP	ENST00000307637.4	37	CCDS8588.1																																																																																				0.562	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			T	8212521	C	T	8212521	2	4	42	1	0	0	0	0	0	0	0	1	2205	564	20	2		2	C3AR1	12	8212521	Silent	SNP	C	TCGA-09-1662-01A-01W-0615-10		8212521	125639374	23	2046											
PGF	5228	hgsc.bcm.edu	37	14	75409432	75409432	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr14:75409432C>T	ENST00000405431.2	-	7	642	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	PGF_ENST00000555567.1_Missense_Mutation_p.G164S|PGF_ENST00000553716.1_Missense_Mutation_p.G143S|PGF_ENST00000238607.6_Missense_Mutation_p.G163S			P49763	PLGF_HUMAN	placental growth factor	215					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.G164S(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	ACAGCATCGCCGCACCTGCCA	0.627																																					GBM(127;389 2301 5452 48547)											1	Substitution - Missense(1)	ovary(1)	14											42	41	41					14																	75409432		2203	4298	6501	74479185	SO:0001583	missense	5228			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"placenta growth factor"	601121	"placental growth factor-like", "placental growth factor, vascular endothelial growth factor-related protein"	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.643G>A	14.37:g.75409432C>T	ENSP00000385365:p.Gly215Ser		74479185	Q07101|Q9BV78|Q9Y6S8	Missense_Mutation	SNP	ENST00000405431.2	37	CCDS9835.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069390	0.36470	.	.	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	5.2	3.37	0.38596	.	0.680926	0.14011	N	0.347494	T	0.13756	0.0333	N	0.19112	0.55	0.09310	N	0.999999	P;B;B	0.40230	0.708;0.37;0.254	B;B;B	0.28991	0.097;0.037;0.017	T	0.08806	-1.0704	9	0.17832	T	0.49	.	7.1088	0.25378	0.0:0.8011:0.0:0.1989	.	143;163;164	P49763-2;G3XA84;Q53XY6	.;.;.	S	164;143;163;215	.	ENSP00000238607:G164S	G	-	1	0	PGF	74479185	0.008000	0.16893	0.567000	0.28434	0.972000	0.66771	0.814000	0.27239	1.182000	0.42928	0.655000	0.94253	GGC		0.627	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632		T	75409432	C	T	75409432	3	4	42	1	0	0	0	0	1	0	0	0	11788	652	23	1	26	1	PGF	14	75409432	Missense_Mutation	SNP	C	TCGA-09-1662-01A-01W-0615-10		75409432	31940108	24	2047											
SERPINA12	145264	hgsc.bcm.edu	37	14	94964401	94964401	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr14:94964401G>T	ENST00000341228.2	-	3	1129	c.334C>A	c.(334-336)Ctt>Att	p.L112I	SERPINA12_ENST00000556881.1_Missense_Mutation_p.L112I	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	112					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L112I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCCTCATGAAGATCTTTTTCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											128	128	128					14																	94964401		2203	4300	6503	94034154	SO:0001583	missense	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.334C>A	14.37:g.94964401G>T	ENSP00000342109:p.Leu112Ile		94034154		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	2.241	-0.373845	0.05034	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84442	-1.85;-1.85	5.59	-1.38	0.09027	Serpin domain (3);	0.853418	0.10106	N	0.715332	T	0.61248	0.2332	N	0.03281	-0.365	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.52396	-0.8581	10	0.02654	T	1	.	8.9505	0.35785	0.0:0.2748:0.1963:0.5289	.	112	Q8IW75	SPA12_HUMAN	I	112	ENSP00000451738:L112I;ENSP00000342109:L112I	ENSP00000342109:L112I	L	-	1	0	SERPINA12	94034154	0.002000	0.14202	0.001000	0.08648	0.172000	0.22775	0.175000	0.16762	0.024000	0.15214	0.655000	0.94253	CTT		0.522	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		T	94964401	G	T	94964401	3	4	42	1	0	0	0	0	1	0	0	0	14092	942	33	3	926	3	SERPINA12	14	94964401	Missense_Mutation	SNP	G	TCGA-09-1662-01A-01W-0615-10	19554969	94964401	12385139	25	2048											
TYRO3	7301	hgsc.bcm.edu	37	15	41857238	41857238	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr15:41857238C>T	ENST00000263798.3	+	6	906	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	TYRO3_ENST00000559066.1_Missense_Mutation_p.P183S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	228	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P220S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCTGCAGCCCCCTTCAACAT	0.572																																																1	Substitution - Missense(1)	ovary(1)	15											91	77	82					15																	41857238		2203	4300	6503	39644530	SO:0001583	missense	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.682C>T	15.37:g.41857238C>T	ENSP00000263798:p.Pro228Ser		39644530	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615606	0.87359	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.79749	-1.3	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000761	D	0.88955	0.6578	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89892	0.4038	10	0.87932	D	0	-18.2944	13.8338	0.63398	0.0:1.0:0.0:0.0	.	228	Q06418	TYRO3_HUMAN	S	160;228	ENSP00000263798:P228S	ENSP00000263798:P228S	P	+	1	0	TYRO3	39644530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.998000	0.63927	2.649000	0.89929	0.655000	0.94253	CCC		0.572	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			T	41857238	C	T	41857238	3	4	42	1	0	0	0	0	1	0	0	0	16814	623	22	2	704	2	TYRO3	15	41857238	Missense_Mutation	SNP	C	TCGA-09-1662-01A-01W-0615-10		41857238	60674154	26	2049											
CYP1A2	1544	hgsc.bcm.edu	37	15	75042235	75042235	+	Silent	SNP	G	G	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr15:75042235G>A	ENST00000343932.4	+	2	219	c.156G>A	c.(154-156)ggG>ggA	p.G52G		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	52					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.G52G(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CCTTGCTCGGGCATGTGCTGA	0.632																																																1	Substitution - coding silent(1)	ovary(1)	15											75	76	76					15																	75042235		2197	4296	6493	72829288	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.156G>A	15.37:g.75042235G>A			72829288	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																				0.632	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75042235	G	A	75042235	2	1	42	1	0	0	0	0	0	0	0	1	4150	1190	42	2		2	CYP1A2	15	75042235	Silent	SNP	G	TCGA-09-1662-01A-01W-0615-10	33184997	75042235	27489157	27	2050											
CHD2	1106	hgsc.bcm.edu	37	15	93499688	93499688	+	Splice_Site	SNP	G	G	C			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr15:93499688G>C	ENST00000394196.4	+	16	2877		c.e16-1		CHD2_ENST00000557381.1_Splice_Site	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTTACTTTAGACTGTGCTGG	0.393																																																1	Unknown(1)	ovary(1)	15											98	97	97					15																	93499688		2197	4298	6495	91300692	SO:0001630	splice_region_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1810-1G>C	15.37:g.93499688G>C			91300692	C6G482|Q96IP5	Splice_Site	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280279	0.80692	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9871	0.92775	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD2	91300692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.823000	0.99369	2.489000	0.83994	0.557000	0.71058	.		0.393	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	Intron	C	93499688	G	C	93499688	5	2	42	1	0	0	0	0	0	0	1	0	3325	956	33	3	1871	3	CHD2	15	93499688	Splice_Site	SNP	G	TCGA-09-1662-01A-01W-0615-10	18457453	93499688	9031704	28	2051											
DNAH3	55567	hgsc.bcm.edu	37	16	20981254	20981254	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr16:20981254G>A	ENST00000261383.3	-	52	8317	c.8318C>T	c.(8317-8319)gCt>gTt	p.A2773V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2773	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A2773V(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTGTCCAGAGCAGCTAGTGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											128	107	114					16																	20981254		2201	4300	6501	20888755	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8318C>T	16.37:g.20981254G>A	ENSP00000261383:p.Ala2773Val		20888755	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038822	0.75617	.	.	ENSG00000158486	ENST00000261383	T	0.80214	-1.35	5.84	5.84	0.93424	Dynein heavy chain, coiled coil stalk (1);	0.133960	0.48767	D	0.000169	D	0.93743	0.8000	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94889	0.8046	10	0.66056	D	0.02	.	20.2012	0.98260	0.0:0.0:1.0:0.0	.	2773	Q8TD57	DYH3_HUMAN	V	2773	ENSP00000261383:A2773V	ENSP00000261383:A2773V	A	-	2	0	DNAH3	20888755	1.000000	0.71417	0.182000	0.23118	0.015000	0.08874	9.707000	0.98725	2.788000	0.95919	0.549000	0.68633	GCT		0.587	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	20981254	G	A	20981254	3	1	42	1	0	0	0	0	1	0	0	0	4603	971	34	2	4075	2	DNAH3	16	20981254	Missense_Mutation	SNP	G	TCGA-09-1662-01A-01W-0615-10		20981254	69373499	29	2052											
TP53	7157	hgsc.bcm.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578403	C	T	7578403	3	4	42	1	0	0	0	0	1	0	0	0	16381	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-09-1662-01A-01W-0615-10		7578403	73616807	30	2053											
EVPL	2125	hgsc.bcm.edu	37	17	74003677	74003678	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr17:74003677_74003678insCC	ENST00000301607.3	-	22	5861_5862	c.5608_5609insGG	c.(5608-5610)gacfs	p.D1870fs	EVPL_ENST00000586740.1_Frame_Shift_Ins_p.D1892fs|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1870	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.D1870fs*19(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTGAGCAGGTCCACGATGCCC	0.619																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								71515273	SO:0001589	frameshift_variant	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5607_5608dupGG	17.37:g.74003678_74003679dupCC	ENSP00000301607:p.Asp1870fs		71515272	A0AUV5	Frame_Shift_Ins	INS	ENST00000301607.3	37	CCDS11737.1																																																																																				0.619	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		CC	74003678	-	CC	74003677	7	5	42	1	0	1	1	0	0	0	0	0	5292	1667	58	0	496	0	EVPL	17	74003677	Frame_Shift_Ins	INS	-	TCGA-09-1662-01A-01W-0615-10	66425274	74003677	7191533	31	2054											
SEC14L1	6397	hgsc.bcm.edu	37	17	75190860	75190860	+	Silent	SNP	A	A	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr17:75190860A>G	ENST00000413679.2	+	7	879	c.576A>G	c.(574-576)acA>acG	p.T192T	SEC14L1_ENST00000591437.1_Silent_p.T158T|SEC14L1_ENST00000585618.1_Silent_p.T192T|SEC14L1_ENST00000430767.4_Silent_p.T192T|SEC14L1_ENST00000392476.2_Silent_p.T192T|SEC14L1_ENST00000443798.4_Silent_p.T192T|SEC14L1_ENST00000431431.2_Silent_p.T158T|SEC14L1_ENST00000436233.4_Silent_p.T192T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	192					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T192T(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CTTCAGAGACATCTTCATCAT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	17											136	126	130					17																	75190860		2203	4300	6503	72702455	SO:0001819	synonymous_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.576A>G	17.37:g.75190860A>G			72702455	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	CCDS11752.1																																																																																				0.532	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		G	75190860	A	G	75190860	2	3	42	1	0	0	0	0	0	0	0	1	13984	204	8	4		4	SEC14L1	17	75190860	Silent	SNP	A	TCGA-09-1662-01A-01W-0615-10	1187183	75190860	6004350	32	2055											
C18orf34	374864	hgsc.bcm.edu	37	18	30903493	30903493	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr18:30903493C>A	ENST00000383096.3	-	11	1166	c.984G>T	c.(982-984)aaG>aaT	p.K328N	CCDC178_ENST00000583930.1_Missense_Mutation_p.K328N|CCDC178_ENST00000579947.1_Missense_Mutation_p.K328N|CCDC178_ENST00000403303.1_Missense_Mutation_p.K328N|CCDC178_ENST00000402325.1_Missense_Mutation_p.K328N|CCDC178_ENST00000406524.2_Missense_Mutation_p.K328N|CCDC178_ENST00000300227.8_Missense_Mutation_p.K328N|CCDC178_ENST00000579916.1_Intron			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	328								p.K328N(1)									GGTAAATATCCTTATCAATCT	0.318																																																1	Substitution - Missense(1)	ovary(1)	18											60	58	58					18																	30903493		2202	4295	6497	29157491	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.984G>T	18.37:g.30903493C>A	ENSP00000372576:p.Lys328Asn		29157491	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	7.715	0.696020	0.15106	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	4.52	-7.15	0.01521	.	.	.	.	.	T	0.23451	0.0567	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.24258	0.1;0.1;0.1;0.1	B;B;B;B	0.23419	0.046;0.046;0.046;0.046	T	0.27400	-1.0075	9	0.27082	T	0.32	-8.9701	5.8615	0.18749	0.2727:0.4803:0.0:0.247	.	328;328;328;328	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	N	328	ENSP00000385591:K328N;ENSP00000372576:K328N;ENSP00000300227:K328N;ENSP00000385867:K328N;ENSP00000385234:K328N	ENSP00000300227:K328N	K	-	3	2	C18orf34	29157491	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.360000	0.02600	-1.015000	0.03375	-0.295000	0.09555	AAG		0.318	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		A	30903493	C	A	30903493	3	1	42	1	0	0	0	0	1	0	0	0	1902	680	24	3	1671	3	C18orf34	18	30903493	Missense_Mutation	SNP	C	TCGA-09-1662-01A-01W-0615-10		30903493	47173755	33	2056											
SPANXN3	139067	hgsc.bcm.edu	37	X	142596799	142596799	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chrX:142596799A>T	ENST00000370503.2	-	2	354	c.271T>A	c.(271-273)Tta>Ata	p.L91I	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	91								p.L91I(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCAGATAAGTCTACGCCT	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											218	180	193					X																	142596799		2203	4300	6503	142424465	SO:0001583	missense	139067				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.271T>A	X.37:g.142596799A>T	ENSP00000359534:p.Leu91Ile		142424465	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.512278	0.00984	.	.	ENSG00000189252	ENST00000370503	T	0.05925	3.37	0.73	-1.46	0.08800	.	.	.	.	.	T	0.01353	0.0044	N	0.00926	-1.1	0.09310	N	1	B	0.32396	0.369	B	0.30251	0.113	T	0.27191	-1.0081	8	0.08179	T	0.78	.	.	.	.	.	91	Q5MJ09	SPXN3_HUMAN	I	91	ENSP00000359534:L91I	ENSP00000359534:L91I	L	-	1	2	SPANXN3	142424465	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.189000	0.03061	-2.164000	0.00782	-0.853000	0.03031	TTA		0.438	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		T	142596799	A	T	142596799	3	4	42	1	0	0	0	0	1	0	0	0	14995	69	3	5	158	5	SPANXN3	23	142596799	Missense_Mutation	SNP	A	TCGA-09-1662-01A-01W-0615-10		142596799	12673761	34	2057											
TMEM222	84065	genome.wustl.edu	37	1	27661930	27661930	+	Silent	SNP	C	C	T	rs200116563	byFrequency	TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr1:27661930C>T	ENST00000374076.4	+	6	638	c.600C>T	c.(598-600)acC>acT	p.T200T	TMEM222_ENST00000608611.1_Silent_p.T167T	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	200						integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TCATCCTCACCGTCAGCCTGG	0.597													C|||	2	0.000399361	8e-04	0	5008	,	,		18565	0.001		0	False		,,,				2504	0															0			1											180	131	148					1																	27661930		2203	4300	6503	27534517	SO:0001819	synonymous_variant	84065			AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 160"	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.600C>T	1.37:g.27661930C>T			27534517	D3DPL6|Q53HD8|Q5FVE9	Silent	SNP	ENST00000374076.4	37	CCDS297.2																																																																																				0.597	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125		T	27661930	C	T	27661930	2	4	43	1	0	0	0	0	0	0	0	1	16145	639	23	1		1	TMEM222	1	27661930	Silent	SNP	C	TCGA-09-1664-01A-01W-0639-09		27661930	221588691	1	2058											
DLGAP3	58512	genome.wustl.edu	37	1	35370751	35370751	+	Silent	SNP	C	C	T			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr1:35370751C>T	ENST00000373347.1	-	3	502	c.234G>A	c.(232-234)gcG>gcA	p.A78A	DLGAP3_ENST00000235180.4_Silent_p.A78A|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	78					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCCCGGCCCCCGCTGGCCCTC	0.692																																																0			1											5	6	5					1																	35370751		2121	4150	6271	35143338	SO:0001819	synonymous_variant	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.234G>A	1.37:g.35370751C>T			35143338	Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	CCDS30670.1																																																																																				0.692	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		T	35370751	C	T	35370751	2	4	43	1	0	0	0	0	0	0	0	1	4561	639	23	1		1	DLGAP3	1	35370751	Silent	SNP	C	TCGA-09-1664-01A-01W-0639-09	7708821	35370751	213879870	2	2059											
KCNH7	90134	genome.wustl.edu	37	2	163236423	163236423	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr2:163236423C>T	ENST00000332142.5	-	14	3170	c.3071G>A	c.(3070-3072)aGc>aAc	p.S1024N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1024					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGTGAGGTCGCTTTCGGTTTC	0.512																																					GBM(196;1492 2208 17507 24132 45496)											0			2											192	180	184					2																	163236423		2203	4300	6503	162944669	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3071G>A	2.37:g.163236423C>T	ENSP00000331727:p.Ser1024Asn		162944669	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659581	0.47467	.	.	ENSG00000184611	ENST00000332142	D	0.87103	-2.21	5.97	5.97	0.96955	.	0.186437	0.64402	D	0.000017	T	0.76513	0.3998	N	0.12182	0.205	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.70223	-0.4931	10	0.32370	T	0.25	.	13.5933	0.61971	0.0:0.9293:0.0:0.0707	.	1024	Q9NS40	KCNH7_HUMAN	N	1024	ENSP00000331727:S1024N	ENSP00000331727:S1024N	S	-	2	0	KCNH7	162944669	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.871000	0.63042	2.835000	0.97688	0.591000	0.81541	AGC		0.512	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		T	163236423	C	T	163236423	3	4	43	1	0	0	0	0	1	0	0	0	8037	797	28	2	531	2	KCNH7	2	163236423	Missense_Mutation	SNP	C	TCGA-09-1664-01A-01W-0639-09		163236423	79962950	3	2060											
COL4A4	1286	genome.wustl.edu	37	2	227914784	227914784	+	Splice_Site	SNP	C	C	A			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr2:227914784C>A	ENST00000396625.3	-	34	3421	c.3214G>T	c.(3214-3216)Gga>Tga	p.G1072*	COL4A4_ENST00000329662.7_Splice_Site_p.G1072*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1072	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAAACCATACCTTTAGGTCCT	0.408																																																0			2											137	127	130					2																	227914784		1863	4105	5968	227623028	SO:0001630	splice_region_variant	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3214+1G>T	2.37:g.227914784C>A			227623028	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	43	10.410625	0.99400	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4868	0.87691	0.0:1.0:0.0:0.0	.	.	.	.	X	1072	.	.	G	-	1	0	COL4A4	227623028	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.384000	0.66225	2.655000	0.90218	0.462000	0.41574	GGA		0.408	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	Nonsense_Mutation	A	227914784	C	A	227914784	5	1	43	1	0	0	0	0	0	0	1	0	3693	695	24	3	1918	3	COL4A4	2	227914784	Splice_Site	SNP	C	TCGA-09-1664-01A-01W-0639-09	64678361	227914784	15284589	4	2061											
TAS2R1	50834	genome.wustl.edu	37	5	9629690	9629690	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr5:9629690A>G	ENST00000382492.2	-	1	773	c.455T>C	c.(454-456)gTc>gCc	p.V152A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	152					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAAGTATGGGACCATAAACCC	0.393																																																0			5											71	78	76					5																	9629690		2203	4300	6503	9682690	SO:0001583	missense	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.455T>C	5.37:g.9629690A>G	ENSP00000371932:p.Val152Ala		9682690	Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	A	6.248	0.413889	0.11870	.	.	ENSG00000169777	ENST00000382492	T	0.00776	5.71	5.43	-7.01	0.01594	.	3.276450	0.01706	U	0.027478	T	0.00695	0.0023	L	0.39020	1.185	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.46345	-0.9198	9	.	.	.	.	2.0224	0.03512	0.3906:0.0929:0.3285:0.188	.	152	Q9NYW7	TA2R1_HUMAN	A	152	ENSP00000371932:V152A	.	V	-	2	0	TAS2R1	9682690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.314000	0.08092	-1.748000	0.01332	-0.242000	0.12053	GTC		0.393	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			G	9629690	A	G	9629690	3	3	43	1	0	0	0	0	1	0	0	0	15565	275	10	4	448	4	TAS2R1	5	9629690	Missense_Mutation	SNP	A	TCGA-09-1664-01A-01W-0639-09		9629690	171285570	5	2062											
NCR3	259197	genome.wustl.edu	37	6	31557656	31557656	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr6:31557656G>C	ENST00000340027.5	-	2	554	c.291C>G	c.(289-291)gaC>gaG	p.D97E	NCR3_ENST00000376071.4_Missense_Mutation_p.D72E|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_Missense_Mutation_p.D97E|NCR3_ENST00000376072.3_Missense_Mutation_p.D97E	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	97	Ig-like.				cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GGCCTCGCACGTCCCGGATGT	0.627																																																0			6											138	130	133					6																	31557656		1511	2709	4220	31665635	SO:0001583	missense	259197			AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19077	protein-coding gene	gene with protein product		611550	"lymphocyte antigen 117"	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123	ENST00000340027.5:c.291C>G	6.37:g.31557656G>C	ENSP00000342156:p.Asp97Glu		31665635	B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Missense_Mutation	SNP	ENST00000340027.5	37	CCDS34397.1	.	.	.	.	.	.	.	.	.	.	G	3.499	-0.102190	0.06967	.	.	ENSG00000204475	ENST00000340027;ENST00000376073;ENST00000376072;ENST00000376071	T;T;T;T	0.28255	1.62;1.62;1.62;4.18	4.01	1.18	0.20946	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.683649	0.13384	N	0.391928	T	0.13713	0.0332	M	0.70595	2.14	0.09310	N	1	B;B;B	0.27229	0.03;0.172;0.1	B;B;B	0.29524	0.031;0.103;0.089	T	0.26121	-1.0112	10	0.42905	T	0.14	-4.8696	6.1659	0.20390	0.338:0.0:0.662:0.0	.	97;97;97	O14931-2;Q05D23;O14931	.;.;NCTR3_HUMAN	E	97;97;97;72	ENSP00000342156:D97E;ENSP00000365241:D97E;ENSP00000365240:D97E;ENSP00000365239:D72E	ENSP00000342156:D97E	D	-	3	2	NCR3	31665635	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	0.430000	0.21428	0.106000	0.17784	0.585000	0.79938	GAC		0.627	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			C	31557656	G	C	31557656	3	2	43	1	0	0	0	0	1	0	0	0	10239	1136	40	3	449	3	NCR3	6	31557656	Missense_Mutation	SNP	G	TCGA-09-1664-01A-01W-0639-09		31557656	139557411	6	2063											
PDE10A	10846	genome.wustl.edu	37	6	165829727	165829727	+	Silent	SNP	T	T	C			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr6:165829727T>C	ENST00000366882.1	-	13	1165	c.1011A>G	c.(1009-1011)acA>acG	p.T337T	PDE10A_ENST00000354448.4_Silent_p.T337T|PDE10A_ENST00000539869.2_Silent_p.T347T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	337	GAF 2.				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)			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)	GGACTTCCCCTGTTCTTGCTA	0.403																																					Esophageal Squamous(22;308 615 5753 12038 40624)											0			6											262	237	245					6																	165829727		2203	4300	6503	165749717	SO:0001819	synonymous_variant	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.1011A>G	6.37:g.165829727T>C			165749717	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37																																																																																					0.403	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			C	165829727	T	C	165829727	2	2	43	1	0	0	0	0	0	0	0	1	11630	1567	55	4		4	PDE10A	6	165829727	Silent	SNP	T	TCGA-09-1664-01A-01W-0639-09	134272071	165829727	5285340	7	2064											
MUC17	140453	genome.wustl.edu	37	7	100684392	100684392	+	Missense_Mutation	SNP	C	C	T	rs548952598		TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr7:100684392C>T	ENST00000306151.4	+	3	9759	c.9695C>T	c.(9694-9696)aCg>aTg	p.T3232M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3232	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCAACACGCCGGTGGCC	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		27118	0		0	False		,,,				2504	0															0			7											260	266	264					7																	100684392		2203	4300	6503	100471112	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9695C>T	7.37:g.100684392C>T	ENSP00000302716:p.Thr3232Met		100471112	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	5.359	0.251600	0.10185	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	0.976	-0.0482	0.13840	.	.	.	.	.	T	0.04497	0.0123	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.46076	-0.9217	9	0.41790	T	0.15	.	5.7193	0.17978	0.0:0.7836:0.0:0.2164	.	3232	Q685J3	MUC17_HUMAN	M	3232	ENSP00000302716:T3232M	ENSP00000302716:T3232M	T	+	2	0	MUC17	100471112	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.168000	0.16622	-0.007000	0.14345	-1.368000	0.01194	ACG		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100684392	C	T	100684392	3	4	43	1	0	0	0	0	1	0	0	0	9974	536	19	1	9705	1	MUC17	7	100684392	Missense_Mutation	SNP	C	TCGA-09-1664-01A-01W-0639-09		100684392	58454271	8	2065											
RB1CC1	9821	genome.wustl.edu	37	8	53570293	53570293	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr8:53570293G>A	ENST00000025008.5	-	15	2619	c.2096C>T	c.(2095-2097)aCg>aTg	p.T699M	RB1CC1_ENST00000435644.2_Missense_Mutation_p.T699M|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.T699M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	699					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAATCAAACGTATGTGCATC	0.398																																					GBM(180;1701 2102 13475 42023 52570)											0			8											110	111	110					8																	53570293		2203	4300	6503	53732846	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2096C>T	8.37:g.53570293G>A	ENSP00000025008:p.Thr699Met		53732846	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805846	0.70682	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.25579	1.8;1.79;1.79	5.35	5.35	0.76521	.	0.049824	0.85682	D	0.000000	T	0.44519	0.1297	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.35699	-0.9778	10	0.72032	D	0.01	-16.7894	19.4123	0.94679	0.0:0.0:1.0:0.0	.	699;699	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	699	ENSP00000025008:T699M;ENSP00000396067:T699M;ENSP00000445960:T699M	ENSP00000025008:T699M	T	-	2	0	RB1CC1	53732846	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.416000	0.97383	2.649000	0.89929	0.655000	0.94253	ACG		0.398	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53570293	G	A	53570293	3	1	43	1	0	0	0	0	1	0	0	0	13102	1145	40	1	2728	1	RB1CC1	8	53570293	Missense_Mutation	SNP	G	TCGA-09-1664-01A-01W-0639-09		53570293	92793729	9	2066											
C11orf42	160298	genome.wustl.edu	37	11	6232211	6232211	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr11:6232211G>A	ENST00000316375.2	+	3	991	c.941G>A	c.(940-942)gGg>gAg	p.G314E	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	314										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCCCGACGGGCACTCCATG	0.632																																																0			11											23	27	25					11																	6232211		2198	4293	6491	6188787	SO:0001583	missense	160298			BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.941G>A	11.37:g.6232211G>A	ENSP00000321021:p.Gly314Glu		6188787		Missense_Mutation	SNP	ENST00000316375.2	37	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	8.819	0.937061	0.18206	.	.	ENSG00000180878	ENST00000316375	T	0.41758	0.99	4.84	4.84	0.62591	.	0.140513	0.33161	N	0.005205	T	0.23532	0.0569	N	0.08118	0	0.29694	N	0.840693	B	0.22414	0.069	B	0.19391	0.025	T	0.09707	-1.0662	10	0.26408	T	0.33	-8.087	13.2978	0.60307	0.0:0.0:1.0:0.0	.	314	Q8N5U0	CK042_HUMAN	E	314	ENSP00000321021:G314E	ENSP00000321021:G314E	G	+	2	0	C11orf42	6188787	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.633000	0.61318	2.497000	0.84241	0.484000	0.47621	GGG		0.632	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		A	6232211	G	A	6232211	3	1	43	1	0	0	0	0	1	0	0	0	1641	1232	43	2	951	2	C11orf42	11	6232211	Missense_Mutation	SNP	G	TCGA-09-1664-01A-01W-0639-09		6232211	128774305	10	2067											
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91	81	85					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		A	25398284	C	A	25398284	3	1	43	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-09-1664-01A-01W-0639-09		25398284	108453611	11	2068											
NF1	4763	genome.wustl.edu	37	17	29486060	29486061	+	Frame_Shift_Ins	INS	-	-	T			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr17:29486060_29486061insT	ENST00000358273.4	+	3	620_621	c.237_238insT	c.(238-240)tatfs	p.Y80fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.Y80fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.Y80fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	80			Y -> C. {ECO:0000269|Ref.7}.|Y -> S (in dbSNP:rs4795581).		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAAAAATTTATATCTCTCTCA	0.332			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	17																																								26510187	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.238dupT	17.37:g.29486061_29486061dupT	ENSP00000351015:p.Tyr80fs		26510186	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	CCDS42292.1																																																																																				0.332	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29486061	-	T	29486060	7	5	43	1	0	1	1	0	0	0	0	0	10356	446	16	0	247	0	NF1	17	29486060	Frame_Shift_Ins	INS	-	TCGA-09-1664-01A-01W-0639-09		29486060	51709150	12	2069											
DOK5	55816	genome.wustl.edu	37	20	53171519	53171519	+	Silent	SNP	T	T	C			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chr20:53171519T>C	ENST00000262593.5	+	2	464	c.114T>C	c.(112-114)ggT>ggC	p.G38G	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	38	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CAAGCAAAGGTCCAAAAAGAC	0.393																																																0			20											124	122	123					20																	53171519		2203	4300	6503	52604926	SO:0001819	synonymous_variant	55816			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.114T>C	20.37:g.53171519T>C			52604926	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Silent	SNP	ENST00000262593.5	37	CCDS13446.1																																																																																				0.393	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			C	53171519	T	C	53171519	2	2	43	1	0	0	0	0	0	0	0	1	4700	1654	58	4		4	DOK5	20	53171519	Silent	SNP	T	TCGA-09-1664-01A-01W-0639-09		53171519	9854001	13	2070											
DMD	1756	genome.wustl.edu	37	X	31893420	31893420	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chrX:31893420T>A	ENST00000357033.4	-	48	7189	c.6983A>T	c.(6982-6984)aAa>aTa	p.K2328I	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.K2324I|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2328			Missing (in DMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAAGCTTTTTTTCAAGCTG	0.363																																																0			X											73	59	63					X																	31893420		2201	4300	6501	31803341	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6983A>T	X.37:g.31893420T>A	ENSP00000354923:p.Lys2328Ile		31803341	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.277|7.277	0.608276|0.608276	0.14002|0.14002	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280|ENST00000465285	T;T;T|.	0.36157|.	3.93;1.27;1.27|.	0.694|0.694	0.694|0.694	0.18062|0.18062	.|.	.|.	.|.	.|.	.|.	T|T	0.31888|0.31888	0.0811|0.0811	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	B;B;P;P;B|.	0.51240|.	0.018;0.0;0.943;0.943;0.011|.	B;B;P;P;B|.	0.52598|.	0.006;0.0;0.703;0.703;0.0|.	T|T	0.04551|0.04551	-1.0943|-1.0943	8|4	0.37606|.	T|.	0.19|.	.|.	.|.	.|.	.|.	.|.	2320;2328;2324;987;984|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6|.	.;DMD_HUMAN;.;.;.|.	I|N	2320;987;984;24;2324;2328;2328;2205|56	ENSP00000350765:K24I;ENSP00000367948:K2324I;ENSP00000354923:K2328I|.	ENSP00000354923:K2328I|.	K|K	-|-	2|3	0|2	DMD|DMD	31803341|31803341	0.995000|0.995000	0.38212|0.38212	0.867000|0.867000	0.34043|0.34043	0.789000|0.789000	0.44602|0.44602	0.449000|0.449000	0.21744|0.21744	0.496000|0.496000	0.27904|0.27904	0.486000|0.486000	0.48141|0.48141	AAA|AAA		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		A	31893420	T	A	31893420	3	1	43	1	0	0	0	0	1	0	0	0	4580	1841	64	5	4350	5	DMD	23	31893420	Missense_Mutation	SNP	T	TCGA-09-1664-01A-01W-0639-09		31893420	123377140	14	2071											
KDM5C	8242	genome.wustl.edu	37	X	53222193	53222193	+	Silent	SNP	G	G	A			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chrX:53222193G>A	ENST00000375401.3	-	26	5171	c.4639C>T	c.(4639-4641)Ctg>Ttg	p.L1547L	KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Silent_p.L1546L|KDM5C_ENST00000375383.3_Silent_p.L1503L|KDM5C_ENST00000375379.3_Silent_p.L1544L	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1547					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGCAGATGCAGCCGGGGAGTC	0.647			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0			X											23	24	23					X																	53222193		2202	4298	6500	53238918	SO:0001819	synonymous_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4639C>T	X.37:g.53222193G>A			53238918	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	CCDS14351.1																																																																																				0.647	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53222193	G	A	53222193	2	1	43	1	0	0	0	0	0	0	0	1	8135	962	34	2		2	KDM5C	23	53222193	Silent	SNP	G	TCGA-09-1664-01A-01W-0639-09	21328773	53222193	102048367	15	2072											
MAGT1	84061	genome.wustl.edu	37	X	77112371	77112371	+	Splice_Site	SNP	C	C	A			TCGA-09-1664-01A-01W-0639-09	TCGA-09-1664-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8364585f-d532-4c26-9e0e-22cbfaeaf683	396c481e-d6ec-456f-a9dc-5740e9bfb22c	g.chrX:77112371C>A	ENST00000358075.6	-	5	714		c.e5-1			NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1						cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TCACTCTAATCTAATGGAAAG	0.323																																																0			X											62	61	61					X																	77112371		2203	4296	6499	76999027	SO:0001630	splice_region_variant	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.628-1G>T	X.37:g.77112371C>A			76999027	B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Splice_Site	SNP	ENST00000358075.6	37	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899346	0.72754	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9804	0.80105	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAGT1	76999027	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.358000	0.79466	1.772000	0.52199	0.600000	0.82982	.		0.323	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121	Intron	A	77112371	C	A	77112371	5	1	43	1	0	0	0	0	0	0	1	0	9196	927	32	3	500	3	MAGT1	23	77112371	Splice_Site	SNP	C	TCGA-09-1664-01A-01W-0639-09	23890178	77112371	78158189	16	2073											
ASAP3	55616	hgsc.bcm.edu	37	1	23760008	23760008	+	Silent	SNP	C	C	A	rs143770418	byFrequency	TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr1:23760008C>A	ENST00000336689.3	-	21	2081	c.2037G>T	c.(2035-2037)gcG>gcT	p.A679A	ASAP3_ENST00000495646.1_Silent_p.A183A|ASAP3_ENST00000437606.2_Silent_p.A670A	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	679					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.A679A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAAAGGTCCCCGCCTGGGCCT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	1											97	108	104					1																	23760008		2203	4300	6503	23632595	SO:0001819	synonymous_variant	55616			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2037G>T	1.37:g.23760008C>A			23632595	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	CCDS235.1																																																																																				0.592	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		A	23760008	C	A	23760008	2	1	44	1	0	0	0	0	0	0	0	1	1012	639	23	3		3	ASAP3	1	23760008	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10		23760008	225490613	1	2074											
ST6GALNAC3	256435	hgsc.bcm.edu	37	1	76877830	76877830	+	Silent	SNP	A	A	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr1:76877830A>G	ENST00000328299.3	+	3	499	c.351A>G	c.(349-351)gaA>gaG	p.E117E	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	117					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.E117E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GTTATGAAGAAGATGTCGGCC	0.448																																																1	Substitution - coding silent(1)	ovary(1)	1											128	116	120					1																	76877830		2203	4300	6503	76650418	SO:0001819	synonymous_variant	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.351A>G	1.37:g.76877830A>G			76650418	Q6PCE0|Q6UX29|Q8N259	Silent	SNP	ENST00000328299.3	37	CCDS672.1																																																																																				0.448	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		G	76877830	A	G	76877830	2	3	44	1	0	0	0	0	0	0	0	1	15227	69	3	4		4	ST6GALNAC3	1	76877830	Silent	SNP	A	TCGA-09-1665-01B-01W-0615-10	53117822	76877830	172372791	2	2075											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144906483	144906483	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr1:144906483C>A	ENST00000369354.3	-	18	2563	c.2374G>T	c.(2374-2376)Gtg>Ttg	p.V792L	PDE4DIP_ENST00000529945.1_Missense_Mutation_p.V955L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.V792L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.V792L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V792L|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.V579L|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.V858L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V929L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V929L|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.V955L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	792					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.V792L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCAGCCTGCACCTGCAGCTCT	0.408			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - Missense(1)	ovary(1)	1											104	105	104					1																	144906483		2203	4296	6499	143617840	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2374G>T	1.37:g.144906483C>A	ENSP00000358360:p.Val792Leu		143617840	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322145	0.81580	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12147	4.75;4.83;4.83;4.81;4.81;3.86;3.85;2.74;2.73;2.71	6.07	6.07	0.98685	.	.	.	.	.	T	0.10680	0.0261	L	0.27053	0.805	0.80722	D	1	P;P;P;D;D	0.58970	0.792;0.942;0.927;0.984;0.982	B;P;P;P;P	0.54346	0.342;0.697;0.608;0.713;0.749	T	0.20009	-1.0288	9	0.14656	T	0.56	.	18.3129	0.90207	0.0:1.0:0.0:0.0	.	955;792;955;858;792	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	L	858;792;792;955;929;929;792;792;955;955;579	ENSP00000327209:V858L;ENSP00000358360:V792L;ENSP00000358363:V792L;ENSP00000435654:V929L;ENSP00000358366:V929L;ENSP00000358357:V792L;ENSP00000358355:V792L;ENSP00000316434:V955L;ENSP00000433392:V955L;ENSP00000436791:V579L	ENSP00000327209:V858L	V	-	1	0	PDE4DIP	143617840	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.803000	0.55560	2.928000	0.99379	0.638000	0.83543	GTG		0.408	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144906483	C	A	144906483	3	1	44	1	0	0	0	0	1	0	0	0	11643	507	18	3	4784	3	PDE4DIP	1	144906483	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	68028653	144906483	104344138	3	2076											
SNX27	81609	hgsc.bcm.edu	37	1	151630785	151630785	+	Missense_Mutation	SNP	C	C	G	rs377735811		TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr1:151630785C>G	ENST00000458013.2	+	3	738	c.618C>G	c.(616-618)aaC>aaG	p.N206K	SNX27_ENST00000368843.3_Missense_Mutation_p.N206K|SNX27_ENST00000368838.1_Missense_Mutation_p.N113K			Q96L92	SNX27_HUMAN	sorting nexin family member 27	206	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.N206K(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACACCAGAACCTGAAGAGAG	0.463																																					Colon(46;291 966 40145 41237 41888)											1	Substitution - Missense(1)	ovary(1)	1											164	159	161					1																	151630785		2203	4300	6503	149897409	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.618C>G	1.37:g.151630785C>G	ENSP00000400333:p.Asn206Lys		149897409	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	C	12.94	2.088232	0.36855	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.36878	1.23;1.23;1.23	5.54	5.54	0.83059	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.12475	0.0303	N	0.10782	0.045	0.80722	D	1	B;B	0.24092	0.097;0.079	B;B	0.27715	0.082;0.03	T	0.09552	-1.0669	10	0.21540	T	0.41	.	18.0602	0.89374	0.0:1.0:0.0:0.0	.	206;206	Q96L92;Q96L92-3	SNX27_HUMAN;.	K	206;206;113	ENSP00000400333:N206K;ENSP00000357836:N206K;ENSP00000357831:N113K	ENSP00000357831:N113K	N	+	3	2	SNX27	149897409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.792000	0.55476	2.618000	0.88619	0.650000	0.86243	AAC		0.463	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		G	151630785	C	G	151630785	3	3	44	1	0	0	0	0	1	0	0	0	14900	506	18	3	628	3	SNX27	1	151630785	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	6724302	151630785	97619836	4	2077											
IL6R	3570	hgsc.bcm.edu	37	1	154437778	154437778	+	Silent	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr1:154437778G>A	ENST00000368485.3	+	10	1766	c.1329G>A	c.(1327-1329)tcG>tcA	p.S443S	IL6R_ENST00000344086.4_3'UTR|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	443					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.S443S(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	ACAATACCTCGAGCCACAACC	0.622																																																1	Substitution - coding silent(1)	ovary(1)	1											60	63	62					1																	154437778		2203	4300	6503	152704402	SO:0001819	synonymous_variant	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1329G>A	1.37:g.154437778G>A			152704402	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	37	CCDS1067.1																																																																																				0.622	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		A	154437778	G	A	154437778	2	1	44	1	0	0	0	0	0	0	0	1	7702	1045	37	1		1	IL6R	1	154437778	Silent	SNP	G	TCGA-09-1665-01B-01W-0615-10	2806993	154437778	94812843	5	2078											
CADM3	57863	hgsc.bcm.edu	37	1	159163723	159163723	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr1:159163723C>T	ENST00000368125.4	+	5	741	c.584C>T	c.(583-585)aCa>aTa	p.T195I	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.T229I	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	195	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T229I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGCTCGGTGACATTCCAGGTT	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											113	96	102					1																	159163723		2203	4300	6503	157430347	SO:0001583	missense	57863			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.584C>T	1.37:g.159163723C>T	ENSP00000357107:p.Thr195Ile		157430347	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191177	0.38707	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.76448	-1.02;-1.02	5.0	1.86	0.25419	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.414834	0.25148	N	0.032777	T	0.47078	0.1426	N	0.26042	0.785	0.09310	N	0.999995	P;P	0.46220	0.589;0.874	B;P	0.45712	0.405;0.491	T	0.38499	-0.9658	10	0.26408	T	0.33	.	5.8103	0.18462	0.4645:0.4407:0.0:0.0948	.	195;229	Q8N126;Q8N126-2	CADM3_HUMAN;.	I	229;195	ENSP00000357106:T229I;ENSP00000357107:T195I	ENSP00000357106:T229I	T	+	2	0	CADM3	157430347	0.948000	0.32251	0.868000	0.34077	0.983000	0.72400	2.202000	0.42743	0.694000	0.31654	0.561000	0.74099	ACA		0.512	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		T	159163723	C	T	159163723	3	4	44	1	0	0	0	0	1	0	0	0	2568	478	17	2	708	2	CADM3	1	159163723	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	4725945	159163723	90086898	6	2079											
CTSE	1510	hgsc.bcm.edu	37	1	206328779	206328779	+	Silent	SNP	A	A	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr1:206328779A>T	ENST00000358184.2	+	7	964	c.846A>T	c.(844-846)acA>acT	p.T282T	CTSE_ENST00000360218.2_Intron|CTSE_ENST00000361052.3_Silent_p.T287T|CTSE_ENST00000432969.2_Intron	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	287					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.T282T(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TTGTGGACACAGGGACTTCCC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	1											81	75	77					1																	206328779		2203	4300	6503	204495402	SO:0001819	synonymous_variant	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.846A>T	1.37:g.206328779A>T			204495402	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Silent	SNP	ENST00000358184.2	37	CCDS1462.1																																																																																				0.617	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		T	206328779	A	T	206328779	2	4	44	1	0	0	0	0	0	0	0	1	4033	175	7	5		5	CTSE	1	206328779	Silent	SNP	A	TCGA-09-1665-01B-01W-0615-10	47165056	206328779	42921842	7	2080											
ZNF238	10472	hgsc.bcm.edu	37	1	244217166	244217170	+	Frame_Shift_Del	DEL	TTTTC	TTTTC	-			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	TTTTC	TTTTC	TTTTC	-	TTTTC	TTTTC	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr1:244217166_244217170delTTTTC	ENST00000358704.4	+	2	239_243	c.90_94delTTTTC	c.(88-96)ggttttcttfs	p.FL31fs		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	22	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F22fs*2(1)									GACACCAGGGTTTTCTTTGTGACTG	0.488																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								242283793	SO:0001589	frameshift_variant	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.90_94delTTTTC	1.37:g.244217166_244217170delTTTTC	ENSP00000351539:p.Phe31fs		242283789	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Frame_Shift_Del	DEL	ENST00000358704.4	37	CCDS1622.1																																																																																				0.488	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		-	244217170	TTTTC	-	244217166	7	5	44	1	0	1	0	1	0	0	0	0	17790	1712	60	0	96	0	ZNF238	1	244217166	Frame_Shift_Del	DEL	TTTTC	TCGA-09-1665-01B-01W-0615-10	37888387	244217166	5033455	8	2081											
REL	5966	hgsc.bcm.edu	37	2	61144022	61144022	+	Silent	SNP	A	A	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr2:61144022A>G	ENST00000295025.8	+	5	725	c.405A>G	c.(403-405)aaA>aaG	p.K135K	REL_ENST00000394479.3_Silent_p.K135K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	135	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K135K(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCCCTGAAAAACAGCTGAATG	0.373			A		Hodgkin Lymphoma																																		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	1	Substitution - coding silent(1)	ovary(1)	2											138	129	132					2																	61144022		2203	4300	6503	60997526	SO:0001819	synonymous_variant	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.405A>G	2.37:g.61144022A>G			60997526	Q17RU2|Q2PNZ7|Q6LDY0	Silent	SNP	ENST00000295025.8	37	CCDS1864.1																																																																																				0.373	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		G	61144022	A	G	61144022	2	3	44	1	0	0	0	0	0	0	0	1	13218	40	2	4		4	REL	2	61144022	Silent	SNP	A	TCGA-09-1665-01B-01W-0615-10		61144022	182055351	9	2082											
LRP1B	53353	hgsc.bcm.edu	37	2	141259421	141259421	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr2:141259421A>T	ENST00000389484.3	-	55	9656	c.8685T>A	c.(8683-8685)ttT>ttA	p.F2895L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2895	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.F2895L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCACATAAAAAATGAACTGT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											45	44	44					2																	141259421		2203	4299	6502	140975891	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8685T>A	2.37:g.141259421A>T	ENSP00000374135:p.Phe2895Leu		140975891	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529648	0.44969	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95377	-3.69	5.95	4.81	0.61882	.	0.000000	0.85682	U	0.000000	D	0.88822	0.6541	N	0.12569	0.235	0.44092	D	0.996853	P	0.38280	0.625	B	0.40741	0.339	D	0.86316	0.1689	10	0.10902	T	0.67	.	10.3952	0.44196	0.872:0.0:0.128:0.0	.	2895	Q9NZR2	LRP1B_HUMAN	L	2895;2833	ENSP00000374135:F2895L	ENSP00000374135:F2895L	F	-	3	2	LRP1B	140975891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.567000	0.53813	2.276000	0.75962	0.528000	0.53228	TTT		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141259421	A	T	141259421	3	4	44	1	0	0	0	0	1	0	0	0	8955	11	1	5	5262	5	LRP1B	2	141259421	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	80115399	141259421	101939952	10	2083											
ZEB2	9839	hgsc.bcm.edu	37	2	145156010	145156010	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr2:145156010G>T	ENST00000558170.2	-	8	3928	c.2744C>A	c.(2743-2745)aCc>aAc	p.T915N	ZEB2_ENST00000303660.4_Missense_Mutation_p.T915N|ZEB2_ENST00000409487.3_Missense_Mutation_p.T915N|ZEB2_ENST00000539609.3_Missense_Mutation_p.T891N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	915					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.T915N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGGAATACTGGTCTGGACTGG	0.502																																					Melanoma(33;1235 1264 5755 16332)											1	Substitution - Missense(1)	ovary(1)	2											172	167	169					2																	145156010		2203	4300	6503	144872480	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2744C>A	2.37:g.145156010G>T	ENSP00000454157:p.Thr915Asn		144872480	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	4.310	0.056899	0.08339	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.12039	2.74;2.72;2.72	5.83	5.83	0.93111	.	0.044485	0.85682	D	0.000000	T	0.07954	0.0199	N	0.02539	-0.55	0.80722	D	1	B;P;P;P	0.42827	0.01;0.791;0.596;0.596	B;B;B;B	0.40864	0.009;0.342;0.26;0.26	T	0.47674	-0.9099	10	0.25106	T	0.35	-10.1069	20.1374	0.98035	0.0:0.0:1.0:0.0	.	891;780;914;915	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	N	891;915;915	ENSP00000443792:T891N;ENSP00000302501:T915N;ENSP00000386854:T915N	ENSP00000302501:T915N	T	-	2	0	ZEB2	144872480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.763000	0.94921	0.563000	0.77884	ACC		0.502	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		T	145156010	G	T	145156010	3	4	44	1	0	0	0	0	1	0	0	0	17624	1261	44	3	912	3	ZEB2	2	145156010	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	3896589	145156010	98043363	11	2084											
TTN	7273	hgsc.bcm.edu	37	2	179612521	179612521	+	Intron	SNP	G	G	T	rs372890240		TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr2:179612521G>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A4869D			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A4869D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGAAAGAAGCTTCATTCTG	0.358																																																1	Substitution - Missense(1)	ovary(1)	2						G	,,ASP/ALA,,	1,4405	2.1+/-5.4	0,1,2202	50	50	50		,,14606,,	-2	0	2		50	0,8596		0,0,4298	no	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,126,,	0,1,6500	TT,TG,GG		0.0,0.0227,0.0077	,,,,	,,4869/5605,,	179612521	1,13001	2203	4298	6501	179320766	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5329C>A	2.37:g.179612521G>T			179320766	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.78	2.039962	0.35989	2.27E-4	0.0	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57595	0.39	6.05	-2.04	0.07343	.	.	.	.	.	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.19679	-1.0298	9	0.12430	T	0.62	.	0.3872	0.00404	0.3195:0.1224:0.2282:0.3299	.	4869	Q8WZ42-6	.	D	4869;183	ENSP00000354117:A4869D	ENSP00000304714:A183D	A	-	2	0	TTN	179320766	0.865000	0.29922	0.000000	0.03702	0.003000	0.03518	1.794000	0.38774	-0.058000	0.13177	-0.912000	0.02778	GCT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179612521	G	T	179612521	1	4	44	0	1	0	0	0	0	0	0	0	16735	971	34	3		3	TTN	2	179612521	Intron	SNP	G	TCGA-09-1665-01B-01W-0615-10	34456511	179612521	63586852	12	2085											
LHFPL4	375323	hgsc.bcm.edu	37	3	9547725	9547725	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr3:9547725A>T	ENST00000287585.6	-	3	854	c.569T>A	c.(568-570)cTc>cAc	p.L190H		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	203						integral component of membrane (GO:0016021)		p.L190H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GAGGAAGGAGAGGATGAGGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	3											149	116	127					3																	9547725		2203	4300	6503	9522725	SO:0001583	missense	375323			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.569T>A	3.37:g.9547725A>T	ENSP00000287585:p.Leu190His		9522725	A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.786061	0.90282	.	.	ENSG00000156959	ENST00000287585	T	0.81163	-1.46	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000011	D	0.91590	0.7343	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93401	0.6760	10	0.87932	D	0	-22.9845	15.4563	0.75318	1.0:0.0:0.0:0.0	.	190	Q7Z7J7	LHPL4_HUMAN	H	190	ENSP00000287585:L190H	ENSP00000287585:L190H	L	-	2	0	LHFPL4	9522725	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.141000	0.66446	0.533000	0.62120	CTC		0.622	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560		T	9547725	A	T	9547725	3	4	44	1	0	0	0	0	1	0	0	0	8767	304	11	5	182	5	LHFPL4	3	9547725	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10		9547725	188474705	13	2086											
IL17RC	84818	hgsc.bcm.edu	37	3	9962623	9962623	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr3:9962623G>A	ENST00000295981.3	+	7	1023	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Missense_Mutation_p.E198K|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000403601.3_Missense_Mutation_p.E198K|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000383812.4_Intron|IL17RC_ENST00000455057.1_Intron	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	269					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.E269K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGGGGGCTCGAAGTCTGGAA	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											28	30	29					3																	9962623		2203	4300	6503	9937623	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.805G>A	3.37:g.9962623G>A	ENSP00000295981:p.Glu269Lys		9937623	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046233	0.75846	.	.	ENSG00000163702	ENST00000295981;ENST00000436503;ENST00000403601;ENST00000413608	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.59	2.72	0.32119	.	0.269330	0.26293	N	0.025201	T	0.11836	0.0288	L	0.44542	1.39	0.46028	D	0.998823	B;P;P;B;P	0.48764	0.052;0.915;0.915;0.213;0.83	B;B;B;B;B	0.35655	0.016;0.207;0.207;0.022;0.187	T	0.04811	-1.0925	10	0.66056	D	0.02	-3.0627	7.7861	0.29093	0.0867:0.2784:0.6349:0.0	.	198;198;198;269;198	A8BWD5;E9PHJ6;A8BWC9;Q8NAC3;Q8NAC3-2	.;.;.;I17RC_HUMAN;.	K	269;173;198;198	ENSP00000295981:E269K;ENSP00000401128:E173K;ENSP00000384969:E198K;ENSP00000396064:E198K	ENSP00000295981:E269K	E	+	1	0	IL17RC	9937623	0.971000	0.33674	0.348000	0.25681	0.994000	0.84299	1.705000	0.37867	0.271000	0.22005	0.557000	0.71058	GAA		0.627	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		A	9962623	G	A	9962623	3	1	44	1	0	0	0	0	1	0	0	0	7641	1059	37	1	831	1	IL17RC	3	9962623	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	414898	9962623	188059807	14	2087											
MST1R	4486	hgsc.bcm.edu	37	3	49934992	49934992	+	Silent	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr3:49934992C>A	ENST00000296474.3	-	6	2034	c.2007G>T	c.(2005-2007)cgG>cgT	p.R669R	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.R669R	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	669	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.R669R(1)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCCGTCTACCCGGAAGTGCT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	3											104	83	90					3																	49934992		2203	4300	6503	49909996	SO:0001819	synonymous_variant	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2007G>T	3.37:g.49934992C>A			49909996	B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	CCDS2807.1																																																																																				0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			A	49934992	C	A	49934992	2	1	44	1	0	0	0	0	0	0	0	1	9891	610	22	3		3	MST1R	3	49934992	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10	39972369	49934992	148087438	15	2088											
TOMM70A	9868	hgsc.bcm.edu	37	3	100105124	100105124	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr3:100105124T>G	ENST00000284320.5	-	3	1011	c.563A>C	c.(562-564)aAa>aCa	p.K188T		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	188					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.K188T(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						AAAGAGAGCTTTCACATATTT	0.328																																																1	Substitution - Missense(1)	ovary(1)	3											165	160	162					3																	100105124		2203	4300	6503	101587814	SO:0001583	missense	9868			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.563A>C	3.37:g.100105124T>G	ENSP00000284320:p.Lys188Thr		101587814	D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918519	0.92249	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.76709	-1.04	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89629	0.6770	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90445	0.4434	10	0.52906	T	0.07	-21.0775	16.6407	0.85098	0.0:0.0:0.0:1.0	.	188	O94826	TOM70_HUMAN	T	188;81	ENSP00000284320:K188T	ENSP00000284320:K188T	K	-	2	0	TOMM70A	101587814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	2.326000	0.78906	0.533000	0.62120	AAA		0.328	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			G	100105124	T	G	100105124	3	3	44	1	0	0	0	0	1	0	0	0	16362	1841	64	5	1303	5	TOMM70A	3	100105124	Missense_Mutation	SNP	T	TCGA-09-1665-01B-01W-0615-10	50170132	100105124	97917306	16	2089											
CASR	846	hgsc.bcm.edu	37	3	122003922	122003922	+	Missense_Mutation	SNP	C	C	T	rs193921082		TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr3:122003922C>T	ENST00000490131.1	+	7	3493	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	CASR_ENST00000498619.1_Missense_Mutation_p.R1051W|CASR_ENST00000296154.5_Missense_Mutation_p.R1041W	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1041					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R1041W(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGAGACCAGCGGCCAGAGGT	0.567																																																1	Substitution - Missense(1)	ovary(1)	3											70	72	72					3																	122003922		2203	4300	6503	123486612	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3121C>T	3.37:g.122003922C>T	ENSP00000418685:p.Arg1041Trp		123486612	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	3.865	-0.029157	0.07589	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89415	-2.51;-2.51;-2.51	5.27	5.27	0.74061	.	1.033920	0.07611	N	0.925384	T	0.80003	0.4544	N	0.19112	0.55	0.09310	N	1	P;P	0.44260	0.74;0.83	B;B	0.29942	0.109;0.075	T	0.71909	-0.4450	10	0.72032	D	0.01	.	11.9868	0.53153	0.1844:0.8156:0.0:0.0	.	1051;1041	E7ENE0;P41180	.;CASR_HUMAN	W	1041;1051;1041	ENSP00000418685:R1041W;ENSP00000420194:R1051W;ENSP00000296154:R1041W	ENSP00000296154:R1041W	R	+	1	2	CASR	123486612	0.766000	0.28496	0.050000	0.19076	0.011000	0.07611	2.488000	0.45276	2.632000	0.89209	0.561000	0.74099	CGG		0.567	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	122003922	C	T	122003922	3	4	44	1	0	0	0	0	1	0	0	0	2682	759	27	1	3173	1	CASR	3	122003922	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	21898798	122003922	76018508	17	2090											
PPP2R3A	5523	hgsc.bcm.edu	37	3	135745847	135745847	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr3:135745847T>A	ENST00000264977.3	+	3	2786	c.2169T>A	c.(2167-2169)agT>agA	p.S723R	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S102R|PPP2R3A_ENST00000492624.2_5'UTR|PPP2R3A_ENST00000490467.1_5'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	723					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S723R(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATACCTGTAGTAATCATGAAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											69	65	67					3																	135745847		2203	4300	6503	137228537	SO:0001583	missense	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2169T>A	3.37:g.135745847T>A	ENSP00000264977:p.Ser723Arg		137228537	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257421	0.22965	.	.	ENSG00000073711	ENST00000264977;ENST00000334546	T;T	0.18174	2.23;2.23	5.58	1.51	0.23008	.	0.373870	0.30068	N	0.010500	T	0.11665	0.0284	L	0.34521	1.04	0.80722	D	1	B;B	0.33212	0.402;0.19	B;B	0.35114	0.196;0.084	T	0.14117	-1.0484	10	0.34782	T	0.22	.	6.391	0.21587	0.142:0.1512:0.0:0.7068	.	102;723	Q06190-2;Q06190	.;P2R3A_HUMAN	R	723;102	ENSP00000264977:S723R;ENSP00000334748:S102R	ENSP00000264977:S723R	S	+	3	2	PPP2R3A	137228537	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.822000	0.39052	0.377000	0.24735	0.477000	0.44152	AGT		0.403	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		A	135745847	T	A	135745847	3	1	44	1	0	0	0	0	1	0	0	0	12391	1635	57	5	2311	5	PPP2R3A	3	135745847	Missense_Mutation	SNP	T	TCGA-09-1665-01B-01W-0615-10	13741925	135745847	62276583	18	2091											
KIT	3815	hgsc.bcm.edu	37	4	55561702	55561702	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr4:55561702C>T	ENST00000288135.5	+	2	189	c.92C>T	c.(91-93)cCa>cTa	p.P31L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	31	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P31L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGTGAGTCCAGGGGAACCG	0.478		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	1	Substitution - Missense(1)	ovary(1)	4											70	64	66					4																	55561702		2203	4300	6503	55256459	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.92C>T	4.37:g.55561702C>T	ENSP00000288135:p.Pro31Leu		55256459	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027098	0.54683	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.76968	-1.05;-1.06	5.36	5.36	0.76844	Immunoglobulin-like fold (1);	0.136869	0.34507	N	0.003910	T	0.81640	0.4865	L	0.50333	1.59	0.58432	D	0.999993	D;D	0.89917	0.998;1.0	D;D	0.85130	0.969;0.997	T	0.75252	-0.3383	10	0.09590	T	0.72	.	11.5015	0.50441	0.1787:0.8213:0.0:0.0	.	31;31	P10721-2;P10721	.;KIT_HUMAN	L	31	ENSP00000288135:P31L;ENSP00000390987:P31L	ENSP00000288135:P31L	P	+	2	0	KIT	55256459	0.998000	0.40836	0.984000	0.44739	0.435000	0.31806	3.347000	0.52200	2.788000	0.95919	0.650000	0.86243	CCA		0.478	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			T	55561702	C	T	55561702	3	4	44	1	0	0	0	0	1	0	0	0	8329	594	21	2	98	2	KIT	4	55561702	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10		55561702	135592574	19	2092											
DKK2	27123	hgsc.bcm.edu	37	4	107845851	107845851	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr4:107845851C>G	ENST00000285311.3	-	3	1085	c.380G>C	c.(379-381)tGt>tCt	p.C127S	DKK2_ENST00000513208.1_Missense_Mutation_p.C27S|DKK2_ENST00000510463.1_Missense_Mutation_p.C81S	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	127	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.C127S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AACTGGGATACAGATGCCTGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											189	182	184					4																	107845851		2203	4300	6503	108065300	SO:0001583	missense	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.380G>C	4.37:g.107845851C>G	ENSP00000285311:p.Cys127Ser		108065300	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430178	0.62844	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.58060	0.36;0.71;0.5	5.66	5.66	0.87406	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.87578	0.998;0.987	T	0.77469	-0.2576	10	0.87932	D	0	-10.5984	19.7302	0.96179	0.0:1.0:0.0:0.0	.	127;127	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	S	127;27;81	ENSP00000285311:C127S;ENSP00000421255:C27S;ENSP00000423797:C81S	ENSP00000285311:C127S	C	-	2	0	DKK2	108065300	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	6.544000	0.73878	2.669000	0.90835	0.585000	0.79938	TGT		0.408	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			G	107845851	C	G	107845851	3	3	44	1	0	0	0	0	1	0	0	0	4545	478	17	3	407	3	DKK2	4	107845851	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	52284149	107845851	83308425	20	2093											
SLC6A3	6531	hgsc.bcm.edu	37	5	1401057	1401057	+	Silent	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr5:1401057C>T	ENST00000270349.9	-	14	1939	c.1812G>A	c.(1810-1812)gtG>gtA	p.V604V	SLC6A3_ENST00000453492.2_Silent_p.V604V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	604					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.V604V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCCCTCTGTCCACCAGCTCAC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	5											103	79	87					5																	1401057		2203	4300	6503	1454057	SO:0001819	synonymous_variant	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1812G>A	5.37:g.1401057C>T			1454057	A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105631	0.06924	.	.	ENSG00000142319	ENST00000512002	.	.	.	4.22	1.95	0.26073	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43686	-0.9376	4	.	.	.	.	4.8526	0.13543	0.0:0.6659:0.0:0.3341	.	.	.	.	R	65	.	.	G	-	1	0	SLC6A3	1454057	1.000000	0.71417	0.831000	0.32960	0.397000	0.30659	0.913000	0.28611	0.899000	0.36444	0.313000	0.20887	GGA		0.597	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		T	1401057	C	T	1401057	2	4	44	1	0	0	0	0	0	0	0	1	14688	581	21	2		2	SLC6A3	5	1401057	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10		1401057	179514203	21	2094											
OXCT1	5019	hgsc.bcm.edu	37	5	41862746	41862746	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr5:41862746C>A	ENST00000196371.5	-	2	345	c.185G>T	c.(184-186)gGt>gTt	p.G62V		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	62					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.G62V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GTACTCACCACCAACCAAAAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	5											135	115	122					5																	41862746		2203	4300	6503	41898503	SO:0001583	missense	5019			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.185G>T	5.37:g.41862746C>A	ENSP00000196371:p.Gly62Val		41898503	B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100231	0.76983	.	.	ENSG00000083720	ENST00000196371	D	0.95137	-3.62	5.38	5.38	0.77491	3-oxoacid CoA-transferase, subunit A (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99737	1.1014	10	0.87932	D	0	-13.3807	17.8949	0.88885	0.0:1.0:0.0:0.0	.	62	P55809	SCOT1_HUMAN	V	62	ENSP00000196371:G62V	ENSP00000196371:G62V	G	-	2	0	OXCT1	41898503	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	6.661000	0.74422	2.513000	0.84729	0.591000	0.81541	GGT		0.373	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		A	41862746	C	A	41862746	3	1	44	1	0	0	0	0	1	0	0	0	11329	507	18	3	1441	3	OXCT1	5	41862746	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	40461689	41862746	139052514	22	2095											
PDE8B	8622	hgsc.bcm.edu	37	5	76621405	76621405	+	Silent	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr5:76621405C>A	ENST00000264917.5	+	3	486	c.441C>A	c.(439-441)ggC>ggA	p.G147G	PDE8B_ENST00000346042.3_Silent_p.G147G|PDE8B_ENST00000342343.4_Silent_p.G127G|PDE8B_ENST00000340978.3_Silent_p.G147G|PDE8B_ENST00000333194.4_Silent_p.G147G	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	147				G -> R (in Ref. 7; CAD38584). {ECO:0000305}.	cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.G147G(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AGAGCGATGGCTTCTGGTGGG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	5											141	145	144					5																	76621405		2203	4300	6503	76657161	SO:0001819	synonymous_variant	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.441C>A	5.37:g.76621405C>A			76657161	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	CCDS4037.1																																																																																				0.408	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		A	76621405	C	A	76621405	2	1	44	1	0	0	0	0	0	0	0	1	11654	784	28	3		3	PDE8B	5	76621405	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10	34758659	76621405	104293855	23	2096											
ZCCHC9	84240	hgsc.bcm.edu	37	5	80608438	80608438	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr5:80608438C>T	ENST00000254037.2	+	5	3928	c.773C>T	c.(772-774)cCg>cTg	p.P258L	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.P258L|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.P258L|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.P258L			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	258					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P258L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GTACCTAAACCGCAAAAACCC	0.383																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	5											97	92	94					5																	80608438		2203	4300	6503	80644194	SO:0001583	missense	84240			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.773C>T	5.37:g.80608438C>T	ENSP00000254037:p.Pro258Leu		80644194	B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	C	2.024	-0.423953	0.04734	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.89	-0.114	0.13564	.	0.581781	0.20307	N	0.094920	T	0.16981	0.0408	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.22626	-1.0211	10	0.17832	T	0.49	0.1757	7.2423	0.26104	0.1132:0.3643:0.0:0.5225	.	258	Q8N567	ZCHC9_HUMAN	L	258	ENSP00000254037:P258L;ENSP00000385047:P258L;ENSP00000369546:P258L;ENSP00000412637:P258L	ENSP00000254037:P258L	P	+	2	0	ZCCHC9	80644194	0.000000	0.05858	0.009000	0.14445	0.364000	0.29643	-0.564000	0.05936	-0.086000	0.12550	-0.137000	0.14449	CCG		0.383	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		T	80608438	C	T	80608438	3	4	44	1	0	0	0	0	1	0	0	0	17595	652	23	1	791	1	ZCCHC9	5	80608438	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	3987033	80608438	100306822	24	2097											
KDM3B	51780	hgsc.bcm.edu	37	5	137708418	137708418	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr5:137708418A>G	ENST00000314358.5	+	2	448	c.248A>G	c.(247-249)cAt>cGt	p.H83R		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	83					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.H83R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTAAAAGTTCATGCTGAGGAA	0.473																																																1	Substitution - Missense(1)	ovary(1)	5											112	107	108					5																	137708418		2203	4300	6503	137736317	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.248A>G	5.37:g.137708418A>G	ENSP00000326563:p.His83Arg		137736317	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178355	0.78564	.	.	ENSG00000120733	ENST00000314358	T	0.62232	0.04	5.11	5.11	0.69529	.	0.111741	0.64402	D	0.000008	T	0.71779	0.3380	L	0.43152	1.355	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.74515	-0.3640	10	0.66056	D	0.02	5.3653	15.0503	0.71862	1.0:0.0:0.0:0.0	.	83	Q7LBC6	KDM3B_HUMAN	R	83	ENSP00000326563:H83R	ENSP00000326563:H83R	H	+	2	0	KDM3B	137736317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.541000	0.73865	2.142000	0.66516	0.460000	0.39030	CAT		0.473	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		G	137708418	A	G	137708418	3	3	44	1	0	0	0	0	1	0	0	0	8127	217	8	4	254	4	KDM3B	5	137708418	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	57099980	137708418	43206842	25	2098											
FAM71B	153745	hgsc.bcm.edu	37	5	156590505	156590505	+	Silent	SNP	A	A	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr5:156590505A>T	ENST00000302938.4	-	2	866	c.771T>A	c.(769-771)gcT>gcA	p.A257A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	257	Ala-rich.					nucleus (GO:0005634)		p.A257A(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCTTCAGCAGCCCCTGGAG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	5											93	79	84					5																	156590505		2203	4300	6503	156523083	SO:0001819	synonymous_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.771T>A	5.37:g.156590505A>T			156523083	Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	CCDS4335.1																																																																																				0.592	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		T	156590505	A	T	156590505	2	4	44	1	0	0	0	0	0	0	0	1	5608	175	7	5		5	FAM71B	5	156590505	Silent	SNP	A	TCGA-09-1665-01B-01W-0615-10	18882087	156590505	24324755	26	2099											
DRD1	1812	hgsc.bcm.edu	37	5	174868790	174868790	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr5:174868790A>G	ENST00000393752.2	-	2	2305	c.1313T>C	c.(1312-1314)aTc>aCc	p.I438T		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	438				I -> M (in Ref. 2; CAA41734). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.I438T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTTTTGTGTGATGGGTTGGAT	0.522																																																1	Substitution - Missense(1)	ovary(1)	5											194	187	189					5																	174868790		2203	4300	6503	174801396	SO:0001583	missense	1812			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.1313T>C	5.37:g.174868790A>G	ENSP00000377353:p.Ile438Thr		174801396	B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	A	5.916	0.353119	0.11182	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.69926	-0.44	5.41	4.26	0.50523	.	0.238793	0.40908	N	0.000992	T	0.52008	0.1708	N	0.25890	0.77	0.39040	D	0.960109	B	0.02656	0.0	B	0.04013	0.001	T	0.49881	-0.8892	10	0.46703	T	0.11	.	10.6852	0.45839	0.9248:0.0:0.0752:0.0	.	438	P21728	DRD1_HUMAN	T	438	ENSP00000377353:I438T	ENSP00000327652:I438T	I	-	2	0	DRD1	174801396	1.000000	0.71417	0.599000	0.28851	0.123000	0.20343	6.151000	0.71806	1.007000	0.39238	0.459000	0.35465	ATC		0.522	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		G	174868790	A	G	174868790	3	3	44	1	0	0	0	0	1	0	0	0	4756	333	12	4	31	4	DRD1	5	174868790	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	18278285	174868790	6046470	27	2100											
MDC1	9656	hgsc.bcm.edu	37	6	30671316	30671316	+	Splice_Site	SNP	T	T	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr6:30671316T>C	ENST00000376406.3	-	11	6210		c.e11-2		MDC1_ENST00000376405.2_Splice_Site|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1						DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.?(1)		breast(2)|kidney(1)|ovary(1)	4						CACGACATCCTGAGATTGAGA	0.522								Other conserved DNA damage response genes																																								1	Unknown(1)	ovary(1)	6											167	191	182					6																	30671316		1511	2709	4220	30779295	SO:0001630	splice_region_variant	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5563-2A>G	6.37:g.30671316T>C			30779295	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Splice_Site	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365231	0.41902	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	.	.	.	5.45	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7998	0.34901	0.0:0.0:0.2443:0.7557	.	.	.	.	.	-1	.	.	.	-	.	.	MDC1	30779295	0.973000	0.33851	0.746000	0.31095	0.295000	0.27426	3.359000	0.52292	2.205000	0.71048	0.454000	0.30748	.		0.522	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	Intron	C	30671316	T	C	30671316	5	2	44	1	0	0	0	0	0	0	1	0	9403	1594	55	4	728	4	MDC1	6	30671316	Splice_Site	SNP	T	TCGA-09-1665-01B-01W-0615-10		30671316	140443751	28	2101											
TCP11	6954	hgsc.bcm.edu	37	6	35087098	35087098	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr6:35087098C>A	ENST00000512012.1	-	8	1342	c.1186G>T	c.(1186-1188)Ggc>Tgc	p.G396C	TCP11_ENST00000244645.3_Missense_Mutation_p.G334C|TCP11_ENST00000311875.5_Missense_Mutation_p.G409C|TCP11_ENST00000444780.2_Missense_Mutation_p.G404C|TCP11_ENST00000373974.4_Missense_Mutation_p.G363C|TCP11_ENST00000412155.2_Missense_Mutation_p.G358C|TCP11_ENST00000418521.2_Missense_Mutation_p.G333C|TCP11_ENST00000373979.2_Missense_Mutation_p.G334C			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	396					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G334C(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GCAACAAGGCCCATATTCTTG	0.453																																																1	Substitution - Missense(1)	ovary(1)	6											252	211	225					6																	35087098		2203	4300	6503	35195076	SO:0001583	missense	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1186G>T	6.37:g.35087098C>A	ENSP00000425995:p.Gly396Cys		35195076	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.62|18.62	3.663700|3.663700	0.67700|0.67700	.|.	.|.	ENSG00000124678|ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012|ENST00000502480	T;T;T;T;T;T;T;T|.	0.12984|.	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63|.	4.91|4.91	4.02|4.02	0.46733|0.46733	.|.	0.136522|0.136522	0.48286|0.48286	D|D	0.000199|0.000199	T|T	0.73745|0.73745	0.3626|0.3626	M|M	0.88570|0.88570	2.965|2.965	0.46149|0.46149	D|D	0.99889|0.99889	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.997;0.997;0.998;0.999;0.998;0.994|.	T|T	0.77616|0.77616	-0.2521|-0.2521	10|6	0.49607|.	T|.	0.09|.	.|.	12.1039|12.1039	0.53801|0.53801	0.0:0.9135:0.0:0.0865|0.0:0.9135:0.0:0.0865	.|.	363;358;404;469;396;334|.	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2|.	.;.;.;.;TCP11_HUMAN;.|.	C|V	334;358;334;409;404;363;333;396|203	ENSP00000363091:G334C;ENSP00000402816:G358C;ENSP00000244645:G334C;ENSP00000308708:G409C;ENSP00000404479:G404C;ENSP00000363085:G363C;ENSP00000415320:G333C;ENSP00000425995:G396C|.	ENSP00000244645:G334C|.	G|G	-|-	1|2	0|0	TCP11|TCP11	35195076|35195076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	2.720000|2.720000	0.47252|0.47252	2.439000|2.439000	0.82584|0.82584	0.467000|0.467000	0.42956|0.42956	GGC|GGG		0.453	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		A	35087098	C	A	35087098	3	1	44	1	0	0	0	0	1	0	0	0	15713	623	22	3	333	3	TCP11	6	35087098	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	4415782	35087098	136027969	29	2102											
HACE1	57531	hgsc.bcm.edu	37	6	105244592	105244592	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr6:105244592G>T	ENST00000262903.4	-	9	1030	c.754C>A	c.(754-756)Cac>Aac	p.H252N	HACE1_ENST00000369125.2_Missense_Mutation_p.H252N	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	252					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.H252N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGCCTCGGGTGATATTGAATT	0.333																																																1	Substitution - Missense(1)	ovary(1)	6											78	78	78					6																	105244592		2202	4298	6500	105351285	SO:0001583	missense	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.754C>A	6.37:g.105244592G>T	ENSP00000262903:p.His252Asn		105351285	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484269	0.63962	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.63580	-0.05;-0.05	5.4	5.4	0.78164	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	N	0.24115	0.695	0.80722	D	1	P;P	0.45126	0.851;0.851	P;P	0.58391	0.838;0.775	T	0.48779	-0.9005	10	0.06236	T	0.91	.	19.1639	0.93546	0.0:0.0:1.0:0.0	.	252;252	E9PGP0;Q8IYU2	.;HACE1_HUMAN	N	252	ENSP00000262903:H252N;ENSP00000358121:H252N	ENSP00000262903:H252N	H	-	1	0	HACE1	105351285	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.958000	0.93099	2.517000	0.84864	0.585000	0.79938	CAC		0.333	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		T	105244592	G	T	105244592	3	4	44	1	0	0	0	0	1	0	0	0	6940	1290	45	3	2039	3	HACE1	6	105244592	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	70157494	105244592	65870475	30	2103											
ROS1	6098	hgsc.bcm.edu	37	6	117724350	117724350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr6:117724350G>A	ENST00000368508.3	-	6	727	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.Q186*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	177	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q177*(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGTAGAGCTGCAGCTGCGCT	0.488			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	1	Substitution - Nonsense(1)	ovary(1)	6											96	92	93					6																	117724350		2203	4300	6503	117831043	SO:0001587	stop_gained	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.529C>T	6.37:g.117724350G>A	ENSP00000357494:p.Gln177*		117831043	Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	36	5.673088	0.96754	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.21	5.21	0.72293	.	0.199309	0.35525	N	0.003147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.2838	0.82709	0.0:0.0:1.0:0.0	.	.	.	.	X	177;186	.	ENSP00000357493:Q186X	Q	-	1	0	ROS1	117831043	1.000000	0.71417	0.975000	0.42487	0.296000	0.27459	6.468000	0.73551	2.600000	0.87896	0.655000	0.94253	CAG		0.488	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			A	117724350	G	A	117724350	4	1	44	1	0	0	0	0	0	1	0	0	13534	1328	46	2	6666	2	ROS1	6	117724350	Nonsense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	12479758	117724350	53390717	31	2104											
MAP3K5	4217	hgsc.bcm.edu	37	6	136932441	136932441	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr6:136932441G>A	ENST00000359015.4	-	18	2860	c.2500C>T	c.(2500-2502)Ccc>Tcc	p.P834S	MAP3K5_ENST00000355845.4_Missense_Mutation_p.P81S	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.P834S(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGTACAGGGGTTTATGCCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											135	128	131					6																	136932441		2203	4300	6503	136974134	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2500C>T	6.37:g.136932441G>A	ENSP00000351908:p.Pro834Ser		136974134	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147660	0.94603	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.62941	-0.01;-0.01	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097108	0.64402	D	0.000001	T	0.50222	0.1603	N	0.02345	-0.59	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.959;0.999	T	0.65792	-0.6082	10	0.37606	T	0.19	.	19.3266	0.94264	0.0:0.0:1.0:0.0	.	914;834	Q59GL6;Q99683	.;M3K5_HUMAN	S	834;81;914	ENSP00000351908:P834S;ENSP00000348104:P81S	ENSP00000348104:P81S	P	-	1	0	MAP3K5	136974134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.447000	0.97595	2.642000	0.89623	0.555000	0.69702	CCC		0.383	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			A	136932441	G	A	136932441	3	1	44	1	0	0	0	0	1	0	0	0	9253	1232	43	2	1676	2	MAP3K5	6	136932441	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	19208091	136932441	34182626	32	2105											
IGF2R	3482	hgsc.bcm.edu	37	6	160517553	160517553	+	Silent	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr6:160517553C>T	ENST00000356956.1	+	45	6886	c.6738C>T	c.(6736-6738)ttC>ttT	p.F2246F	RP11-288H12.3_ENST00000569097.1_RNA|IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2246					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.F2246F(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CCATCTTCTTCCACTGTGACC	0.552																																																1	Substitution - coding silent(1)	ovary(1)	6											257	202	220					6																	160517553		2203	4300	6503	160437543	SO:0001819	synonymous_variant	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6738C>T	6.37:g.160517553C>T			160437543	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																				0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160517553	C	T	160517553	2	4	44	1	0	0	0	0	0	0	0	1	7576	854	30	2		2	IGF2R	6	160517553	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10	23585112	160517553	10597514	33	2106											
SMOC2	64094	hgsc.bcm.edu	37	6	168927045	168927045	+	Silent	SNP	C	C	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr6:168927045C>G	ENST00000356284.2	+	3	496	c.276C>G	c.(274-276)gcC>gcG	p.A92A	SMOC2_ENST00000354536.5_Silent_p.A92A	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	92	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.A92A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GGTGTGTGGCCGAAAGGAAGT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	6											129	104	112					6																	168927045		2203	4300	6503	168669894	SO:0001819	synonymous_variant	64094			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.276C>G	6.37:g.168927045C>G			168669894	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	CCDS55076.1																																																																																				0.498	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			G	168927045	C	G	168927045	2	3	44	1	0	0	0	0	0	0	0	1	14805	639	23	3		3	SMOC2	6	168927045	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10	8409492	168927045	2188022	34	2107											
AMPH	273	hgsc.bcm.edu	37	7	38505071	38505071	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr7:38505071G>A	ENST00000356264.2	-	9	960	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	AMPH_ENST00000428293.2_Missense_Mutation_p.P249S|AMPH_ENST00000325590.5_Missense_Mutation_p.P249S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	249					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.P249S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCCTACCTGGGCGCTCCTTGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	7											59	49	52					7																	38505071		2203	4300	6503	38471596	SO:0001583	missense	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.745C>T	7.37:g.38505071G>A	ENSP00000348602:p.Pro249Ser		38471596	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508008	0.85282	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.41758	0.99;0.99;0.99	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.976	T	0.54788	-0.8241	10	0.30078	T	0.28	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	249;249	P49418-2;P49418	.;AMPH_HUMAN	S	249;249;249;19;249	ENSP00000317441:P249S;ENSP00000348602:P249S;ENSP00000390734:P249S	ENSP00000317441:P249S	P	-	1	0	AMPH	38471596	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.102000	0.89548	2.941000	0.99782	0.655000	0.94253	CCC		0.488	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		A	38505071	G	A	38505071	3	1	44	1	0	0	0	0	1	0	0	0	588	1203	42	2	1394	2	AMPH	7	38505071	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10		38505071	120633592	35	2108											
POLM	27434	hgsc.bcm.edu	37	7	44118404	44118404	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr7:44118404G>C	ENST00000242248.5	-	5	750	c.649C>G	c.(649-651)Ctg>Gtg	p.L217V	POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.L217V|POLM_ENST00000395831.3_Missense_Mutation_p.L217V	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	217					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.L217V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCATGCTCCAGCAGCTCCTGG	0.617								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	ovary(1)	7											109	81	90					7																	44118404		2203	4300	6503	44084929	SO:0001583	missense	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.649C>G	7.37:g.44118404G>C	ENSP00000242248:p.Leu217Val		44084929	D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710548	0.48517	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.48836	0.8;0.8;0.8	5.91	4.09	0.47781	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	M	0.68317	2.08	0.45995	D	0.998808	D;D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.972;0.997;0.997;0.996;0.996	T	0.65643	-0.6118	10	0.72032	D	0.01	-29.8198	9.3118	0.37910	0.1689:0.0:0.8311:0.0	.	184;217;217;217;217;217	B4DG75;Q6PIY2;Q9H980;Q86WQ9;Q6P5X8;Q9NP87	.;.;.;.;.;DPOLM_HUMAN	V	217	ENSP00000335141:L217V;ENSP00000242248:L217V;ENSP00000379174:L217V	ENSP00000242248:L217V	L	-	1	2	POLM	44084929	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	0.632000	0.24583	1.509000	0.48786	0.650000	0.86243	CTG		0.617	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		C	44118404	G	C	44118404	3	2	44	1	0	0	0	0	1	0	0	0	12206	962	34	3	863	3	POLM	7	44118404	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	5613333	44118404	115020259	36	2109											
KIAA1324L	222223	hgsc.bcm.edu	37	7	86556192	86556192	+	Missense_Mutation	SNP	C	C	T	rs367624349		TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr7:86556192C>T	ENST00000450689.2	-	9	1315	c.1130G>A	c.(1129-1131)cGg>cAg	p.R377Q	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.R137Q|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.R377Q|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.R210Q	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	377						integral component of membrane (GO:0016021)		p.R137Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAGATCCTCCCGGCAGATTTT	0.378																																																1	Substitution - Missense(1)	ovary(1)	7						C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106	106	106		1130,629	4.3	1	7		106	0,8600		0,0,4300	no	missense,missense	KIAA1324L	NM_001142749.2,NM_152748.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	377/1030,210/863	86556192	1,13005	2203	4300	6503	86394128	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1130G>A	7.37:g.86556192C>T	ENSP00000413445:p.Arg377Gln		86394128	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340523	0.24339	2.27E-4	0.0	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.23	4.34	0.51931	Growth factor, receptor (1);	0.131235	0.51477	D	0.000097	T	0.11495	0.0280	L	0.41492	1.28	0.46096	D	0.998861	B;B;B	0.18741	0.03;0.001;0.003	B;B;B	0.10450	0.005;0.002;0.002	T	0.08973	-1.0696	10	0.13108	T	0.6	.	13.8273	0.63359	0.0:0.9217:0.0:0.0783	.	377;137;210	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	Q	377;137;377;210	ENSP00000413445:R377Q;ENSP00000297222:R137Q;ENSP00000397377:R377Q;ENSP00000402390:R210Q	ENSP00000297222:R137Q	R	-	2	0	KIAA1324L	86394128	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	2.219000	0.42899	2.596000	0.87737	0.563000	0.77884	CGG		0.378	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		T	86556192	C	T	86556192	3	4	44	1	0	0	0	0	1	0	0	0	8224	652	23	1	2015	1	KIAA1324L	7	86556192	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	42437788	86556192	72582471	37	2110											
LAMB4	22798	hgsc.bcm.edu	37	7	107696175	107696175	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr7:107696175G>T	ENST00000388781.3	-	25	3740	c.3657C>A	c.(3655-3657)gaC>gaA	p.D1219E	LAMB4_ENST00000205386.4_Missense_Mutation_p.D1219E|LAMB4_ENST00000388780.3_Missense_Mutation_p.D1219E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1219	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.D1219E(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCCTCTGAGGTCTTTGAAGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	7											79	80	80					7																	107696175		2203	4300	6503	107483411	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3657C>A	7.37:g.107696175G>T	ENSP00000373433:p.Asp1219Glu		107483411	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461818	0.04508	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.33438	1.41;1.41;1.98;1.59	4.8	2.97	0.34412	.	0.621077	0.13418	N	0.389391	T	0.13243	0.0321	N	0.14661	0.345	0.40373	D	0.979367	B;B	0.14805	0.001;0.011	B;B	0.15870	0.003;0.014	T	0.17228	-1.0376	10	0.02654	T	1	.	4.9888	0.14203	0.2345:0.0:0.6184:0.147	.	1219;1219	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	E	1219;1219;245;1219	ENSP00000205386:D1219E;ENSP00000373433:D1219E;ENSP00000416562:D245E;ENSP00000373432:D1219E	ENSP00000205386:D1219E	D	-	3	2	LAMB4	107483411	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	1.261000	0.32980	0.614000	0.30107	0.655000	0.94253	GAC		0.433	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107696175	G	T	107696175	3	4	44	1	0	0	0	0	1	0	0	0	8613	1252	44	3	1668	3	LAMB4	7	107696175	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	21139983	107696175	51442488	38	2111											
FOXP2	93986	hgsc.bcm.edu	37	7	114304392	114304392	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr7:114304392G>A	ENST00000393494.2	+	16	2183	c.1904G>A	c.(1903-1905)aGt>aAt	p.S635N	FOXP2_ENST00000350908.4_Missense_Mutation_p.S635N|FOXP2_ENST00000393489.3_Missense_Mutation_p.S543N|FOXP2_ENST00000403559.4_Missense_Mutation_p.S652N|FOXP2_ENST00000393498.2_Missense_Mutation_p.S614N|FOXP2_ENST00000393491.3_Missense_Mutation_p.S450N|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.S660N			O15409	FOXP2_HUMAN	forkhead box P2	635					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S660N(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AATGCATCCAGTGGCCTACTG	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											91	82	85					7																	114304392		2203	4300	6503	114091628	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1904G>A	7.37:g.114304392G>A	ENSP00000377132:p.Ser635Asn		114091628	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538030	0.27475	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91295	-2.55;-2.54;-2.56;-2.55;-2.61;-2.82	5.57	5.57	0.84162	.	0.407107	0.31370	N	0.007773	D	0.83959	0.5367	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.19817	0.039;0.003;0.024;0.039;0.016	B;B;B;B;B	0.19148	0.007;0.003;0.024;0.007;0.006	T	0.79288	-0.1865	10	0.37606	T	0.19	.	15.0717	0.72042	0.0:0.1414:0.8586:0.0	.	634;652;450;635;660	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	N	635;660;652;635;612;543;450	ENSP00000377132:S635N;ENSP00000386200:S660N;ENSP00000385069:S652N;ENSP00000265436:S635N;ENSP00000377129:S543N;ENSP00000377130:S450N	ENSP00000265436:S635N	S	+	2	0	FOXP2	114091628	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.491000	0.60326	2.614000	0.88457	0.655000	0.94253	AGT		0.473	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		A	114304392	G	A	114304392	3	1	44	1	0	0	0	0	1	0	0	0	6027	1029	36	2	2129	2	FOXP2	7	114304392	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	6608217	114304392	44834271	39	2112											
SNTG1	54212	hgsc.bcm.edu	37	8	51449315	51449315	+	Silent	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr8:51449315C>T	ENST00000522124.1	+	11	1288	c.627C>T	c.(625-627)atC>atT	p.I209I	SNTG1_ENST00000517473.1_Silent_p.I209I|SNTG1_ENST00000518864.1_Silent_p.I209I|SNTG1_ENST00000276467.5_Silent_p.I209I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	209					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.I209I(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAGACTGATCCCTCTACTTC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	8											219	194	203					8																	51449315		2203	4300	6503	51611868	SO:0001819	synonymous_variant	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.627C>T	8.37:g.51449315C>T			51611868	Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	CCDS6147.1																																																																																				0.473	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			T	51449315	C	T	51449315	2	4	44	1	0	0	0	0	0	0	0	1	14877	845	30	2		2	SNTG1	8	51449315	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10		51449315	94914707	40	2113											
ARFGEF1	10565	hgsc.bcm.edu	37	8	68204116	68204116	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr8:68204116T>A	ENST00000262215.3	-	6	1271	c.882A>T	c.(880-882)gaA>gaT	p.E294D		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	294					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.E294D(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTTCAGTCTGTTCATTTTCTG	0.423																																																1	Substitution - Missense(1)	ovary(1)	8											152	141	145					8																	68204116		2203	4300	6503	68366670	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.882A>T	8.37:g.68204116T>A	ENSP00000262215:p.Glu294Asp		68366670	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316001	0.40996	.	.	ENSG00000066777	ENST00000262215	T	0.20598	2.06	5.22	1.53	0.23141	Armadillo-type fold (1);	0.063176	0.64402	D	0.000007	T	0.17109	0.0411	L	0.53249	1.67	0.80722	D	1	B	0.18310	0.027	B	0.14023	0.01	T	0.10753	-1.0616	10	0.16420	T	0.52	.	9.3927	0.38383	0.0:0.3634:0.0:0.6366	.	294	Q9Y6D6	BIG1_HUMAN	D	294	ENSP00000262215:E294D	ENSP00000262215:E294D	E	-	3	2	ARFGEF1	68366670	0.121000	0.22262	0.998000	0.56505	0.996000	0.88848	-0.622000	0.05553	0.028000	0.15324	0.377000	0.23210	GAA		0.423	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		A	68204116	T	A	68204116	3	1	44	1	0	0	0	0	1	0	0	0	852	1722	60	5	4803	5	ARFGEF1	8	68204116	Missense_Mutation	SNP	T	TCGA-09-1665-01B-01W-0615-10	16754801	68204116	78159906	41	2114											
ATAD2	29028	hgsc.bcm.edu	37	8	124340475	124340475	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr8:124340475A>T	ENST00000287394.5	-	25	3930	c.3823T>A	c.(3823-3825)Tct>Act	p.S1275T	ATAD2_ENST00000521903.1_Missense_Mutation_p.S593T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1275					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1275T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAGAGCTAGAAGCATCTCCA	0.294																																																1	Substitution - Missense(1)	ovary(1)	8											73	69	70					8																	124340475		2203	4299	6502	124409656	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3823T>A	8.37:g.124340475A>T	ENSP00000287394:p.Ser1275Thr		124409656	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	A	4.286	0.052304	0.08291	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.91843	-2.92;1.5	5.08	-0.599	0.11645	.	1.760250	0.02605	N	0.101461	D	0.86981	0.6064	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.70615	-0.4823	10	0.25751	T	0.34	-4.1646	5.3878	0.16227	0.4622:0.2727:0.0:0.2652	.	1275	Q6PL18	ATAD2_HUMAN	T	1275;593	ENSP00000287394:S1275T;ENSP00000429213:S593T	ENSP00000287394:S1275T	S	-	1	0	ATAD2	124409656	0.000000	0.05858	0.006000	0.13384	0.057000	0.15508	0.265000	0.18515	0.301000	0.22738	0.528000	0.53228	TCT		0.294	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		T	124340475	A	T	124340475	3	4	44	1	0	0	0	0	1	0	0	0	1071	246	9	5	365	5	ATAD2	8	124340475	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	56136359	124340475	22023547	42	2115											
TG	7038	hgsc.bcm.edu	37	8	133935682	133935682	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr8:133935682G>C	ENST00000220616.4	+	22	4668	c.4628G>C	c.(4627-4629)tGt>tCt	p.C1543S	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1543	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.C1543S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGGCCTTCTGTGTGGACGGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	8											93	86	88					8																	133935682		2203	4300	6503	134004864	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4628G>C	8.37:g.133935682G>C	ENSP00000220616:p.Cys1543Ser		134004864	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012272	0.54468	.	.	ENSG00000042832	ENST00000543313;ENST00000220616	D	0.99470	-5.96	4.84	4.84	0.62591	Thyroglobulin type-1 (5);	0.000000	0.64402	D	0.000007	D	0.99411	0.9792	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98530	1.0627	10	0.87932	D	0	.	13.429	0.61044	0.0:0.0:1.0:0.0	.	1543	P01266	THYG_HUMAN	S	349;1543	ENSP00000220616:C1543S	ENSP00000220616:C1543S	C	+	2	0	TG	134004864	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	5.563000	0.67352	2.247000	0.74100	0.555000	0.69702	TGT		0.592	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133935682	G	C	133935682	3	2	44	1	0	0	0	0	1	0	0	0	15813	1377	48	3	4714	3	TG	8	133935682	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	9595207	133935682	12428340	43	2116											
SPAG8	4882	hgsc.bcm.edu	37	9	35811022	35811022	+	IGR	SNP	G	G	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr9:35811022G>T	ENST00000342694.2	+	0	3686				AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Missense_Mutation_p.S297R|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.S299R|SPAG8_ENST00000396638.2_Missense_Mutation_p.S299R	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S299R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CATCCTGCATGCTTGGGACTT	0.517																																																1	Substitution - Missense(1)	ovary(1)	9											141	144	143					9																	35811022		2203	4300	6503	35801022	SO:0001628	intergenic_variant	26206			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811022G>T			35801022	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.51|12.51	1.958405|1.958405	0.34565|0.34565	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|T;T;T	.|0.32515	.|1.45;1.51;1.51	5.99|5.99	1.45|1.45	0.22620|0.22620	.|.	.|0.744046	.|0.11805	.|N	.|0.527708	T|T	0.19846|0.19846	0.0477|0.0477	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.22003	.|0.023;0.063	.|B;B	.|0.24541	.|0.032;0.054	T|T	0.23904|0.23904	-1.0175|-1.0175	6|10	0.87932|0.35671	D|T	0|0.21	0.1347|0.1347	5.0798|5.0798	0.14651|0.14651	0.1741:0.0:0.5255:0.3004|0.1741:0.0:0.5255:0.3004	.|.	.|299;299	.|E9PDV6;Q99932-2	.|.;.	E|R	297|299;297;299	.|ENSP00000340982:S299R;ENSP00000418072:S297R;ENSP00000379878:S299R	ENSP00000419280:A52E|ENSP00000340982:S299R	A|S	-|-	2|3	0|2	SPAG8|SPAG8	35801022|35801022	0.000000|0.000000	0.05858|0.05858	0.523000|0.523000	0.27875|0.27875	0.987000|0.987000	0.75469|0.75469	0.124000|0.124000	0.15728|0.15728	0.384000|0.384000	0.24942|0.24942	-0.895000|-0.895000	0.02911|0.02911	GCA|AGC		0.517	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			T	35811022	G	T	35811022	1	4	44	0	1	0	0	0	0	0	0	0	14987	1310	46	3		3	SPAG8	9	35811022	IGR	SNP	G	TCGA-09-1665-01B-01W-0615-10		35811022	105402409	44	2117											
C9orf3	84909	hgsc.bcm.edu	37	9	97522493	97522493	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr9:97522493T>C	ENST00000375315.2	+	1	428	c.428T>C	c.(427-429)tTg>tCg	p.L143S	C9orf3_ENST00000277198.2_Missense_Mutation_p.L143S|C9orf3_ENST00000297979.5_Missense_Mutation_p.L143S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	143					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L143S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAGGATTTTTTGCTAGTGTTG	0.448																																																1	Substitution - Missense(1)	ovary(1)	9											216	215	215					9																	97522493		2203	4300	6503	96562314	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.428T>C	9.37:g.97522493T>C	ENSP00000364464:p.Leu143Ser		96562314	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	T	9.060	0.994249	0.19043	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193	T;T;T;T	0.24723	2.62;2.6;2.8;1.84	4.78	3.61	0.41365	.	0.384199	0.24403	N	0.038836	T	0.22282	0.0537	M	0.62723	1.935	0.80722	D	1	B;P;B;B	0.34864	0.206;0.473;0.225;0.256	B;B;B;B	0.30943	0.052;0.122;0.032;0.067	T	0.03184	-1.1063	10	0.35671	T	0.21	-4.5386	7.2199	0.25981	0.0:0.0769:0.1478:0.7754	.	143;143;143;143	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	S	143;143;143;17	ENSP00000277198:L143S;ENSP00000297979:L143S;ENSP00000364464:L143S;ENSP00000387736:L17S	ENSP00000277198:L143S	L	+	2	0	C9orf3	96562314	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.403000	0.52615	0.919000	0.36945	0.460000	0.39030	TTG		0.448	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		C	97522493	T	C	97522493	3	2	44	1	0	0	0	0	1	0	0	0	2477	1821	63	4	430	4	C9orf3	9	97522493	Missense_Mutation	SNP	T	TCGA-09-1665-01B-01W-0615-10	61711471	97522493	43690938	45	2118											
SLC17A6	57084	hgsc.bcm.edu	37	11	22380986	22380986	+	Silent	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr11:22380986C>T	ENST00000263160.3	+	4	923	c.486C>T	c.(484-486)acC>acT	p.T162T	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	162					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.T162T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TACTTCTTACCTCTACCCTAA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	11											126	116	119					11																	22380986		2203	4300	6503	22337562	SO:0001819	synonymous_variant	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.486C>T	11.37:g.22380986C>T			22337562	A6NKS2	Silent	SNP	ENST00000263160.3	37	CCDS7856.1																																																																																				0.373	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		T	22380986	C	T	22380986	2	4	44	1	0	0	0	0	0	0	0	1	14424	668	24	2		2	SLC17A6	11	22380986	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10		22380986	112625530	46	2119											
SYT7	9066	hgsc.bcm.edu	37	11	61286161	61286161	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr11:61286161A>T	ENST00000263846.4	-	9	1477	c.1150T>A	c.(1150-1152)Tgg>Agg	p.W384R	SYT7_ENST00000542836.1_Missense_Mutation_p.W428R|SYT7_ENST00000540677.1_Missense_Mutation_p.W459R|SYT7_ENST00000539008.1_Missense_Mutation_p.W667R|SYT7_ENST00000542670.1_Missense_Mutation_p.W592R|SYT7_ENST00000535826.1_Missense_Mutation_p.W503R	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	384					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.W384R(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGTCCTTCCAGTGCTTCACC	0.682																																																1	Substitution - Missense(1)	ovary(1)	11											51	42	45					11																	61286161		1820	3417	5237	61042737	SO:0001583	missense	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.1150T>A	11.37:g.61286161A>T	ENSP00000263846:p.Trp384Arg		61042737	F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957834	0.73902	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	3.82	3.82	0.43975	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.067357	0.64402	D	0.000005	D	0.90113	0.6911	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	D	0.92286	0.5837	10	0.87932	D	0	.	12.7459	0.57281	1.0:0.0:0.0:0.0	.	459;384	F5GZU9;O43581	.;SYT7_HUMAN	R	384;459;667;428;592;503	ENSP00000263846:W384R;ENSP00000444201:W459R;ENSP00000439694:W667R;ENSP00000444568:W428R;ENSP00000444019:W592R;ENSP00000437720:W503R	ENSP00000263846:W384R	W	-	1	0	SYT7	61042737	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.548000	0.90669	1.587000	0.49959	0.377000	0.23210	TGG		0.682	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		T	61286161	A	T	61286161	3	4	44	1	0	0	0	0	1	0	0	0	15479	188	7	5	65	5	SYT7	11	61286161	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	38905175	61286161	73720355	47	2120											
ABCG4	64137	hgsc.bcm.edu	37	11	119029424	119029424	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr11:119029424C>A	ENST00000449422.2	+	11	1513	c.1325C>A	c.(1324-1326)aCt>aAt	p.T442N	ABCG4_ENST00000307417.3_Missense_Mutation_p.T442N|AP002956.1_ENST00000599663.1_5'Flank|ABCG4_ENST00000531739.1_Missense_Mutation_p.T442N	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	442	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T442N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCATGCCAACTGTGCTCACC	0.622																																																1	Substitution - Missense(1)	ovary(1)	11											96	85	89					11																	119029424		2200	4295	6495	118534634	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1325C>A	11.37:g.119029424C>A	ENSP00000406874:p.Thr442Asn		118534634	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962100	0.92791	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.72167	-0.63;-0.63;-0.63	5.63	5.63	0.86233	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88712	0.3223	10	0.62326	D	0.03	-15.2087	19.266	0.93985	0.0:1.0:0.0:0.0	.	442	Q9H172	ABCG4_HUMAN	N	442	ENSP00000304111:T442N;ENSP00000406874:T442N;ENSP00000434318:T442N	ENSP00000304111:T442N	T	+	2	0	ABCG4	118534634	1.000000	0.71417	0.701000	0.30321	0.999000	0.98932	7.811000	0.86092	2.636000	0.89361	0.655000	0.94253	ACT		0.622	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		A	119029424	C	A	119029424	3	1	44	1	0	0	0	0	1	0	0	0	70	565	20	3	1363	3	ABCG4	11	119029424	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	57743263	119029424	15977092	48	2121											
GRIK4	2900	hgsc.bcm.edu	37	11	120702670	120702670	+	Silent	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr11:120702670C>T	ENST00000527524.2	+	7	908	c.621C>T	c.(619-621)atC>atT	p.I207I	GRIK4_ENST00000438375.2_Silent_p.I207I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	207					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.I207I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCAAGGAGATCCGGGACGACA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	11											120	107	112					11																	120702670		2203	4299	6502	120207880	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.621C>T	11.37:g.120702670C>T			120207880	A8K9L1	Silent	SNP	ENST00000527524.2	37	CCDS8433.1																																																																																				0.627	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		T	120702670	C	T	120702670	2	4	44	1	0	0	0	0	0	0	0	1	6776	845	30	2		2	GRIK4	11	120702670	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10	1673246	120702670	14303846	49	2122											
NTM	50863	hgsc.bcm.edu	37	11	132016343	132016343	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr11:132016343C>A	ENST00000374786.1	+	2	814	c.335C>A	c.(334-336)cCt>cAt	p.P112H	NTM_ENST00000427481.2_Missense_Mutation_p.P103H|NTM_ENST00000374791.3_Missense_Mutation_p.P112H|NTM_ENST00000425719.2_Missense_Mutation_p.P112H|NTM_ENST00000374784.1_Missense_Mutation_p.P112H|NTM_ENST00000539799.1_Missense_Mutation_p.P112H	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	112	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P112H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GACGAGGGCCCTTACACCTGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											167	115	133					11																	132016343		2201	4297	6498	131521553	SO:0001583	missense	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.335C>A	11.37:g.132016343C>A	ENSP00000363918:p.Pro112His		131521553	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351594	0.61183	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051205	0.85682	D	0.000000	T	0.78329	0.4266	M	0.72894	2.215	0.58432	D	0.999992	D;P;D;P;D;D	0.64830	0.994;0.935;0.984;0.935;0.97;0.993	D;D;P;P;P;P	0.67382	0.951;0.928;0.831;0.903;0.784;0.881	T	0.73357	-0.4008	10	0.15499	T	0.54	-17.1243	15.909	0.79456	0.1357:0.8643:0.0:0.0	.	112;103;112;112;112;112	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	H	112;112;103;103;112;112;112	ENSP00000363923:P112H;ENSP00000437668:P112H;ENSP00000448104:P103H;ENSP00000416320:P103H;ENSP00000363918:P112H;ENSP00000396722:P112H;ENSP00000363916:P112H	ENSP00000363916:P112H	P	+	2	0	NTM	131521553	1.000000	0.71417	0.951000	0.38953	0.944000	0.59088	7.805000	0.86005	2.631000	0.89168	0.655000	0.94253	CCT		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		A	132016343	C	A	132016343	3	1	44	1	0	0	0	0	1	0	0	0	10699	681	24	3	427	3	NTM	11	132016343	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	11313673	132016343	2990173	50	2123											
PEX5	5830	hgsc.bcm.edu	37	12	7361751	7361751	+	Silent	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:7361751C>T	ENST00000455147.2	+	15	2125	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	PEX5_ENST00000434354.2_Silent_p.L530L|PEX5_ENST00000266563.5_Silent_p.L478L|PEX5_ENST00000266564.3_Silent_p.L507L|PEX5_ENST00000420616.2_Silent_p.L515L|PEX5_ENST00000412720.2_Silent_p.L536L	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	515					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.L507L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CAGCTGCCCTCAGCGTTCGTC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	12											93	80	85					12																	7361751		2203	4300	6503	7253018	SO:0001819	synonymous_variant	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1545C>T	12.37:g.7361751C>T			7253018	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	CCDS44823.1																																																																																				0.537	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		T	7361751	C	T	7361751	2	4	44	1	0	0	0	0	0	0	0	1	11748	813	29	2		2	PEX5	12	7361751	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10		7361751	126490144	51	2124											
GUCY2C	2984	hgsc.bcm.edu	37	12	14794039	14794039	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:14794039G>A	ENST00000261170.3	-	18	2181	c.2045C>T	c.(2044-2046)aCt>aTt	p.T682I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.T682I(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACAGCTCAAAGTGTAGAAGGT	0.512																																																1	Substitution - Missense(1)	ovary(1)	12											147	104	119					12																	14794039		2203	4300	6503	14685306	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2045C>T	12.37:g.14794039G>A	ENSP00000261170:p.Thr682Ile		14685306	B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122467	0.56613	.	.	ENSG00000070019	ENST00000261170	T	0.62639	0.01	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63756	-0.6565	10	0.18710	T	0.47	.	19.0276	0.92939	0.0:0.0:1.0:0.0	.	682	P25092	GUC2C_HUMAN	I	682	ENSP00000261170:T682I	ENSP00000261170:T682I	T	-	2	0	GUCY2C	14685306	1.000000	0.71417	0.936000	0.37596	0.447000	0.32167	5.533000	0.67160	2.495000	0.84180	0.655000	0.94253	ACT		0.512	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			A	14794039	G	A	14794039	3	1	44	1	0	0	0	0	1	0	0	0	6896	1029	36	2	1216	2	GUCY2C	12	14794039	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	7432288	14794039	119057856	52	2125											
LRP1	4035	hgsc.bcm.edu	37	12	57602963	57602963	+	Silent	SNP	G	G	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:57602963G>T	ENST00000243077.3	+	79	12709	c.12243G>T	c.(12241-12243)gtG>gtT	p.V4081V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4081					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.V4081V(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCCCATTGTGGCTGCTGACA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	12											51	46	48					12																	57602963		2203	4300	6503	55889230	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12243G>T	12.37:g.57602963G>T			55889230	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57602963	G	T	57602963	2	4	44	1	0	0	0	0	0	0	0	1	8951	1335	47	3		3	LRP1	12	57602963	Silent	SNP	G	TCGA-09-1665-01B-01W-0615-10	42808924	57602963	76248932	53	2126											
GLI1	2735	hgsc.bcm.edu	37	12	57858598	57858598	+	Silent	SNP	G	G	A	rs371273350		TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:57858598G>A	ENST00000228682.2	+	4	427	c.336G>A	c.(334-336)tcG>tcA	p.S112S	GLI1_ENST00000546141.1_Silent_p.S71S|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	112					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.S112S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCATCAACTCGCGATGCACAT	0.602																																					Pancreas(157;841 1936 10503 41495 50368)											1	Substitution - coding silent(1)	ovary(1)	12											133	111	119					12																	57858598		2203	4300	6503	56144865	SO:0001819	synonymous_variant	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.336G>A	12.37:g.57858598G>A			56144865	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	CCDS8940.1																																																																																				0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		A	57858598	G	A	57858598	2	1	44	1	0	0	0	0	0	0	0	1	6437	1074	38	1		1	GLI1	12	57858598	Silent	SNP	G	TCGA-09-1665-01B-01W-0615-10	255635	57858598	75993297	54	2127											
SYT1	6857	hgsc.bcm.edu	37	12	79679631	79679631	+	Silent	SNP	T	T	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:79679631T>C	ENST00000261205.4	+	5	888	c.231T>C	c.(229-231)ttT>ttC	p.F77F	SYT1_ENST00000393240.3_Silent_p.F77F|SYT1_ENST00000552744.1_Silent_p.F77F|SYT1_ENST00000457153.2_Silent_p.F77F	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	77					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.F77F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCTGCTGCTTTTGTATCTGTA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	12											146	138	140					12																	79679631		2203	4300	6503	78203762	SO:0001819	synonymous_variant	6857				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.231T>C	12.37:g.79679631T>C			78203762	Q6AI31	Silent	SNP	ENST00000261205.4	37	CCDS9017.1																																																																																				0.398	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		C	79679631	T	C	79679631	2	2	44	1	0	0	0	0	0	0	0	1	15465	1838	64	4		4	SYT1	12	79679631	Silent	SNP	T	TCGA-09-1665-01B-01W-0615-10	21821033	79679631	54172264	55	2128											
ACSS3	79611	hgsc.bcm.edu	37	12	81613841	81613841	+	Silent	SNP	A	A	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:81613841A>G	ENST00000548058.1	+	11	2410	c.1500A>G	c.(1498-1500)ggA>ggG	p.G500G	ACSS3_ENST00000548324.1_Silent_p.G182G|ACSS3_ENST00000261206.3_Silent_p.G499G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	500						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.G500G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGTGTTTAGGAAATATTGTGG	0.284																																																1	Substitution - coding silent(1)	ovary(1)	12											47	52	50					12																	81613841		2203	4300	6503	80137972	SO:0001819	synonymous_variant	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1500A>G	12.37:g.81613841A>G			80137972	Q8NC66	Silent	SNP	ENST00000548058.1	37	CCDS9022.1																																																																																				0.284	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		G	81613841	A	G	81613841	2	3	44	1	0	0	0	0	0	0	0	1	190	233	9	4		4	ACSS3	12	81613841	Silent	SNP	A	TCGA-09-1665-01B-01W-0615-10	1934210	81613841	52238054	56	2129											
APAF1	317	hgsc.bcm.edu	37	12	99061363	99061363	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:99061363G>A	ENST00000551964.1	+	10	2171	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	APAF1_ENST00000359972.2_Missense_Mutation_p.D468N|APAF1_ENST00000549007.1_Missense_Mutation_p.D479N|APAF1_ENST00000339433.3_Missense_Mutation_p.D479N|APAF1_ENST00000547045.1_Missense_Mutation_p.D479N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.D468N|APAF1_ENST00000357310.1_Missense_Mutation_p.D479N	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	479					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.D479N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGATCAGGAAGACTGTATGTA	0.413																																																1	Substitution - Missense(1)	ovary(1)	12											133	123	126					12																	99061363		2203	4300	6503	97585494	SO:0001583	missense	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1435G>A	12.37:g.99061363G>A	ENSP00000448165:p.Asp479Asn		97585494	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037281	0.93630	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.62788	0.0;0.15;0.1;0.21;0.0;0.1;0.21	5.34	5.34	0.76211	.	0.045148	0.85682	D	0.000000	T	0.76807	0.4039	M	0.62723	1.935	0.80722	D	1	D;P;P;D	0.76494	0.999;0.926;0.624;0.997	D;P;P;D	0.79108	0.991;0.77;0.488;0.992	T	0.72734	-0.4204	10	0.27082	T	0.32	-24.2303	19.0609	0.93093	0.0:0.0:1.0:0.0	.	479;468;479;468	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	N	479;468;479;479;468;479;479	ENSP00000448165:D479N;ENSP00000353059:D468N;ENSP00000349862:D479N;ENSP00000341830:D479N;ENSP00000448449:D468N;ENSP00000449791:D479N;ENSP00000448161:D479N	ENSP00000341830:D479N	D	+	1	0	APAF1	97585494	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	8.984000	0.93482	2.503000	0.84419	0.467000	0.42956	GAC		0.413	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		A	99061363	G	A	99061363	3	1	44	1	0	0	0	0	1	0	0	0	755	942	33	2	1469	2	APAF1	12	99061363	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	17447522	99061363	34790532	57	2130											
HCFC2	29915	hgsc.bcm.edu	37	12	104473358	104473358	+	Silent	SNP	T	T	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:104473358T>C	ENST00000229330.4	+	4	713	c.609T>C	c.(607-609)tcT>tcC	p.S203S		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	203					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.S203S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAAAGATTCTGGAAGTCCTA	0.448																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)											1	Substitution - coding silent(1)	ovary(1)	12											152	159	156					12																	104473358		2203	4300	6503	102997488	SO:0001819	synonymous_variant	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.609T>C	12.37:g.104473358T>C			102997488	B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	CCDS9097.1																																																																																				0.448	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		C	104473358	T	C	104473358	2	2	44	1	0	0	0	0	0	0	0	1	6993	1567	55	4		4	HCFC2	12	104473358	Silent	SNP	T	TCGA-09-1665-01B-01W-0615-10	5411995	104473358	29378537	58	2131											
FOXN4	121643	hgsc.bcm.edu	37	12	109717702	109717702	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:109717702A>T	ENST00000299162.5	-	10	1432	c.1328T>A	c.(1327-1329)tTc>tAc	p.F443Y	FOXN4_ENST00000355216.1_Missense_Mutation_p.F263Y	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	443					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F263Y(1)		large_intestine(5)|lung(9)|ovary(2)	16						GTCCAAGCTGAATCCCTCATC	0.577																																																1	Substitution - Missense(1)	ovary(1)	12											96	75	82					12																	109717702		2203	4300	6503	108202085	SO:0001583	missense	121643			AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1328T>A	12.37:g.109717702A>T	ENSP00000299162:p.Phe443Tyr		108202085	Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740806	0.89573	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95377	-3.69;-3.37	4.72	4.72	0.59763	.	0.118734	0.64402	D	0.000018	D	0.97028	0.9029	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.959	D	0.97440	1.0021	10	0.66056	D	0.02	-14.1483	13.7208	0.62725	1.0:0.0:0.0:0.0	.	443;443	A6H901;Q96NZ1	.;FOXN4_HUMAN	Y	263;443	ENSP00000347354:F263Y;ENSP00000299162:F443Y	ENSP00000299162:F443Y	F	-	2	0	FOXN4	108202085	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.858000	0.92256	1.901000	0.55032	0.402000	0.26972	TTC		0.577	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		T	109717702	A	T	109717702	3	4	44	1	0	0	0	0	1	0	0	0	6022	246	9	5	229	5	FOXN4	12	109717702	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	5244344	109717702	24134193	59	2132											
OAS1	4938	hgsc.bcm.edu	37	12	113354443	113354443	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:113354443G>C	ENST00000202917.5	+	4	1047	c.784G>C	c.(784-786)Gtc>Ctc	p.V262L	OAS1_ENST00000551241.1_Missense_Mutation_p.V262L|OAS1_ENST00000445409.2_Missense_Mutation_p.V262L|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000452357.2_Missense_Mutation_p.V262L	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	262					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.V262L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CTTGGAATTAGTCATAAACTA	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											119	109	112					12																	113354443		2203	4300	6503	111838826	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.784G>C	12.37:g.113354443G>C	ENSP00000202917:p.Val262Leu		111838826	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	8.270	0.813114	0.16537	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689;ENST00000553152	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	4.84	0.516	0.17019	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.627114	0.14073	N	0.343255	T	0.32645	0.0836	L	0.49778	1.585	0.21325	N	0.999723	P;B;P;B;B	0.35174	0.488;0.038;0.488;0.433;0.211	B;B;B;B;B	0.37989	0.262;0.021;0.262;0.171;0.105	T	0.17289	-1.0374	10	0.36615	T	0.2	-32.8645	3.7319	0.08496	0.3255:0.1867:0.4877:0.0	.	262;262;262;262;262	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	L	262;262;262;262;262;258;8	ENSP00000202917:V262L;ENSP00000388001:V262L;ENSP00000415721:V262L;ENSP00000448790:V262L;ENSP00000448348:V258L;ENSP00000449053:V8L	ENSP00000202917:V262L	V	+	1	0	OAS1	111838826	0.079000	0.21365	0.003000	0.11579	0.333000	0.28666	0.545000	0.23268	0.231000	0.21079	0.467000	0.42956	GTC		0.463	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			C	113354443	G	C	113354443	3	2	44	1	0	0	0	0	1	0	0	0	10799	1029	36	3	798	3	OAS1	12	113354443	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	3636741	113354443	20497452	60	2133											
MLEC	9761	hgsc.bcm.edu	37	12	121134227	121134227	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr12:121134227G>C	ENST00000228506.3	+	5	1186	c.758G>C	c.(757-759)cGg>cCg	p.R253P	RP11-173P15.3_ENST00000535720.1_RNA|MLEC_ENST00000535413.1_3'UTR|MLEC_ENST00000412616.2_Missense_Mutation_p.G175R|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	253					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.R253P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						AATAAGAACCGGGTGCAGTCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											145	142	143					12																	121134227		2203	4300	6503	119618610	SO:0001583	missense	9761			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.758G>C	12.37:g.121134227G>C	ENSP00000228506:p.Arg253Pro		119618610		Missense_Mutation	SNP	ENST00000228506.3	37	CCDS9206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.65|11.65	1.703347|1.703347	0.30232|0.30232	.|.	.|.	ENSG00000110917|ENSG00000110917	ENST00000412616|ENST00000228506;ENST00000535656	.|.	.|.	.|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.180865	.|0.48286	.|D	.|0.000198	T|T	0.46756|0.46756	0.1409|0.1409	L|L	0.52823|0.52823	1.66|1.66	0.28106|0.28106	N|N	0.931191|0.931191	.|B	.|0.31290	.|0.318	.|B	.|0.28139	.|0.086	T|T	0.52087|0.52087	-0.8622|-0.8622	6|9	0.87932|0.66056	D|D	0|0.02	.|.	18.6593|18.6593	0.91467|0.91467	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|253	.|Q14165	.|MLEC_HUMAN	R|P	175|253;130	.|.	ENSP00000440746:G175R|ENSP00000228506:R253P	G|R	+|+	1|2	0|0	MLEC|MLEC	119618610|119618610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.037000|6.037000	0.70956|0.70956	2.492000|2.492000	0.84095|0.84095	0.563000|0.563000	0.77884|0.77884	GGG|CGG		0.507	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		C	121134227	G	C	121134227	3	2	44	1	0	0	0	0	1	0	0	0	9613	1116	39	3	776	3	MLEC	12	121134227	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	7779784	121134227	12717668	61	2134											
RB1	5925	hgsc.bcm.edu	37	13	48937023	48937023	+	Missense_Mutation	SNP	C	C	T	rs587778827		TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr13:48937023C>T	ENST00000267163.4	+	8	929	c.791C>T	c.(790-792)gCa>gTa	p.A264V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	264					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.A264V(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCACGGATAGCAAAACAACTA	0.343		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	22	Whole gene deletion(15)|Unknown(6)|Substitution - Missense(1)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	13											104	111	108					13																	48937023		2203	4300	6503	47835024	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.791C>T	13.37:g.48937023C>T	ENSP00000267163:p.Ala264Val		47835024	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648906	0.47362	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91996	-2.95	6.17	4.45	0.53987	.	0.477918	0.23498	N	0.047522	D	0.84942	0.5584	N	0.25647	0.755	0.30677	N	0.752736	B	0.19935	0.04	B	0.13407	0.009	T	0.75926	-0.3145	10	0.17369	T	0.5	.	11.7093	0.51616	0.0:0.8571:0.0:0.1429	.	264	P06400	RB_HUMAN	V	243;264	ENSP00000267163:A264V	ENSP00000267163:A264V	A	+	2	0	RB1	47835024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.837000	0.39201	0.941000	0.37499	0.655000	0.94253	GCA		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	48937023	C	T	48937023	3	4	44	1	0	0	0	0	1	0	0	0	13101	710	25	2	821	2	RB1	13	48937023	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10		48937023	66232855	62	2135											
RCBTB2	1102	hgsc.bcm.edu	37	13	49086005	49086005	+	Silent	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr13:49086005G>A	ENST00000344532.3	-	9	1107	c.684C>T	c.(682-684)gtC>gtT	p.V228V	RCBTB2_ENST00000430805.2_Silent_p.V233V|RCBTB2_ENST00000481144.1_5'Flank|RCBTB2_ENST00000544904.1_Silent_p.V204V|RCBTB2_ENST00000544492.1_Missense_Mutation_p.S2F	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	228					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.V228V(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TGTAACCCCAGACATAGACCT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	13											82	77	79					13																	49086005		2203	4300	6503	47984006	SO:0001819	synonymous_variant	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.684C>T	13.37:g.49086005G>A			47984006	B2RDW8	Silent	SNP	ENST00000344532.3	37	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038983	0.55003	.	.	ENSG00000136161	ENST00000544492	T	0.76968	-1.06	5.98	5.15	0.70609	.	.	.	.	.	T	0.69958	0.3169	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67507	-0.5653	8	0.72032	D	0.01	.	10.0896	0.42439	0.0687:0.2488:0.6825:0.0	.	2	B4E372	.	F	2	ENSP00000443862:S2F	ENSP00000443862:S2F	S	-	2	0	RCBTB2	47984006	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.824000	0.39072	1.556000	0.49512	0.591000	0.81541	TCT		0.532	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		A	49086005	G	A	49086005	2	1	44	1	0	0	0	0	0	0	0	1	13175	929	33	2		2	RCBTB2	13	49086005	Silent	SNP	G	TCGA-09-1665-01B-01W-0615-10	148982	49086005	66083873	63	2136											
ZNF828	283489	hgsc.bcm.edu	37	13	115090737	115090737	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr13:115090737G>C	ENST00000361283.1	+	3	1729	c.1420G>C	c.(1420-1422)Ggt>Cgt	p.G474R		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	474	Mediates interaction with MAD2L2.|Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G474R(1)									AAGTTCCCGTGGTGGTTCTCC	0.493																																																1	Substitution - Missense(1)	ovary(1)	13											209	245	233					13																	115090737		2203	4300	6503	114108839	SO:0001583	missense	283489			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1420G>C	13.37:g.115090737G>C	ENSP00000354730:p.Gly474Arg		114108839	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430282	0.25726	.	.	ENSG00000198824	ENST00000361283	T	0.01197	5.19	5.8	4.0	0.46444	.	0.333575	0.25104	N	0.033114	T	0.01061	0.0035	L	0.36672	1.1	0.22835	N	0.998671	P	0.36837	0.571	B	0.33254	0.16	T	0.51748	-0.8666	9	.	.	.	-5.1512	5.8505	0.18689	0.075:0.1354:0.6497:0.14	.	474	Q96JM3	ZN828_HUMAN	R	474	ENSP00000354730:G474R	.	G	+	1	0	ZNF828	114108839	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	-0.319000	0.08039	1.448000	0.47680	0.650000	0.86243	GGT		0.493	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		C	115090737	G	C	115090737	3	2	44	1	0	0	0	0	1	0	0	0	18181	1348	47	3	1422	3	ZNF828	13	115090737	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	66004732	115090737	79141	64	2137											
FOXG1	2290	hgsc.bcm.edu	37	14	29237865	29237865	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr14:29237865G>C	ENST00000313071.4	+	1	1579	c.1380G>C	c.(1378-1380)ttG>ttC	p.L460F	FOXG1_ENST00000382535.3_Missense_Mutation_p.L460F	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	460					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L460F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GACCCTCTTTGCCAAGTTTTA	0.557																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	14											81	81	81					14																	29237865		2203	4300	6503	28307616	SO:0001583	missense	2290				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1380G>C	14.37:g.29237865G>C	ENSP00000339004:p.Leu460Phe		28307616	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861165	0.51482	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94280	-3.39;-3.39	4.14	4.14	0.48551	.	0.000000	0.64402	U	0.000010	D	0.93943	0.8061	L	0.27053	0.805	0.49915	D	0.999833	D	0.71674	0.998	D	0.78314	0.991	D	0.94827	0.7992	10	0.56958	D	0.05	.	16.7792	0.85559	0.0:0.0:1.0:0.0	.	460	P55316	FOXG1_HUMAN	F	460	ENSP00000371975:L460F;ENSP00000339004:L460F	ENSP00000339004:L460F	L	+	3	2	FOXG1	28307616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.438000	0.52871	2.006000	0.58801	0.491000	0.48974	TTG		0.557	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			C	29237865	G	C	29237865	3	2	44	1	0	0	0	0	1	0	0	0	6007	1310	46	3	1382	3	FOXG1	14	29237865	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10		29237865	78111675	65	2138											
STRN3	29966	hgsc.bcm.edu	37	14	31424863	31424863	+	Silent	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr14:31424863C>T	ENST00000357479.5	-	3	619	c.423G>A	c.(421-423)ctG>ctA	p.L141L	STRN3_ENST00000355683.5_Silent_p.L141L	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	141					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L141L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CACCTTGGTTCAGTTCCGTGC	0.294																																																1	Substitution - coding silent(1)	ovary(1)	14											71	73	72					14																	31424863		2203	4299	6502	30494614	SO:0001819	synonymous_variant	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.423G>A	14.37:g.31424863C>T			30494614	A2RTX7|A6NHZ7|Q9NRA5	Silent	SNP	ENST00000357479.5	37	CCDS41938.1																																																																																				0.294	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		T	31424863	C	T	31424863	2	4	44	1	0	0	0	0	0	0	0	1	15332	813	29	2		2	STRN3	14	31424863	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10	2186998	31424863	75924677	66	2139											
CDKL1	8814	hgsc.bcm.edu	37	14	50805740	50805740	+	Silent	SNP	G	G	A	rs184318768		TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr14:50805740G>A	ENST00000216378.2	-	7	1310	c.666C>T	c.(664-666)ctC>ctT	p.L222L	CDKL1_ENST00000395834.1_Silent_p.L222L|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L222L(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GCCTAGGAATGAGATCCCCTT	0.423													G|||	1	0.000199681	8e-04	0	5008	,	,		24685	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	14											157	152	154					14																	50805740		2203	4300	6503	49875490	SO:0001819	synonymous_variant	8814			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"Cyclin-dependent kinases"	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.666C>T	14.37:g.50805740G>A			49875490	Q2M3A4|Q6QUA0|Q8WXQ5	Silent	SNP	ENST00000216378.2	37		2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	9.390|9.390	1.075170|1.075170	0.20227|0.20227	.|.	.|.	ENSG00000100490|ENSG00000100490	ENST00000534267|ENST00000525911	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|.	.|.	.|.	.|.	T|T	0.62307|0.62307	0.2417|0.2417	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.58634|0.58634	-0.7602|-0.7602	4|4	.|.	.|.	.|.	.|.	11.3005|11.3005	0.49302|0.49302	0.1441:0.0:0.8559:0.0|0.1441:0.0:0.8559:0.0	.|.	.|.	.|.	.|.	Y|L	36|3	.|.	.|.	H|S	-|-	1|2	0|0	CDKL1|CDKL1	49875490|49875490	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.508000|0.508000	0.22692|0.22692	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.423	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1			A	50805740	G	A	50805740	2	1	44	1	0	0	0	0	0	0	0	1	3153	1277	45	2		2	CDKL1	14	50805740	Silent	SNP	G	TCGA-09-1665-01B-01W-0615-10	19380877	50805740	56543800	67	2140											
KTN1	3895	hgsc.bcm.edu	37	14	56104028	56104028	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr14:56104028G>A	ENST00000395314.3	+	11	1730	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	KTN1_ENST00000413890.2_Missense_Mutation_p.M554I|KTN1_ENST00000438792.2_Missense_Mutation_p.M554I|KTN1_ENST00000395311.1_Missense_Mutation_p.M554I|KTN1_ENST00000416613.1_Missense_Mutation_p.M554I|KTN1_ENST00000395309.3_Missense_Mutation_p.M554I|KTN1_ENST00000395308.1_Missense_Mutation_p.M554I	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	554					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.M554I(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TGCAGTTAATGGAATCAGAGC	0.348			T	RET	papillary thryoid																																		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	1	Substitution - Missense(1)	ovary(1)	14											100	104	103					14																	56104028		2203	4300	6503	55173781	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1662G>A	14.37:g.56104028G>A	ENSP00000378725:p.Met554Ile		55173781	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291454	0.40494	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000554567;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.33216	1.42;1.43;1.46;1.43;1.42;1.42;1.43	5.29	3.41	0.39046	.	0.208982	0.33496	N	0.004852	T	0.38799	0.1054	L	0.31926	0.97	0.34357	D	0.690508	B;D;B;B	0.59767	0.063;0.986;0.036;0.012	B;D;B;B	0.71656	0.023;0.974;0.044;0.023	T	0.47886	-0.9082	10	0.38643	T	0.18	-12.5324	9.0377	0.36298	0.0701:0.0:0.6666:0.2633	.	554;554;554;554	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	I	554;554;4;554;554;554;554;554	ENSP00000394992:M554I;ENSP00000378720:M554I;ENSP00000391964:M554I;ENSP00000378725:M554I;ENSP00000378719:M554I;ENSP00000378722:M554I;ENSP00000388807:M554I	ENSP00000378719:M554I	M	+	3	0	KTN1	55173781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.967000	0.56802	0.678000	0.31325	0.563000	0.77884	ATG		0.348	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			A	56104028	G	A	56104028	3	1	44	1	0	0	0	0	1	0	0	0	8585	1348	47	2	1700	2	KTN1	14	56104028	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	5298288	56104028	51245512	68	2141											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68232956	68232956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr14:68232956delG	ENST00000347230.4	-	32	6137	c.5999delC	c.(5998-6000)gctfs	p.A2000fs	ZFYVE26_ENST00000555452.1_Frame_Shift_Del_p.A2000fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2000					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A2000fs*10(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTCACAAAGAGCCAAGTCTTG	0.507																																																1	Deletion - Frameshift(1)	ovary(1)	14											60	63	62					14																	68232956		2203	4300	6503	67302709	SO:0001589	frameshift_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5999delC	14.37:g.68232956delG	ENSP00000251119:p.Ala2000fs		67302709	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Frame_Shift_Del	DEL	ENST00000347230.4	37	CCDS9788.1																																																																																				0.507	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		-	68232956	G	-	68232956	7	5	44	1	0	1	0	1	0	0	0	0	17668	971	34	0	1664	0	ZFYVE26	14	68232956	Frame_Shift_Del	DEL	G	TCGA-09-1665-01B-01W-0615-10	12128928	68232956	39116584	69	2142											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68244362	68244362	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr14:68244362A>C	ENST00000347230.4	-	25	5026	c.4888T>G	c.(4888-4890)Ttg>Gtg	p.L1630V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L1630V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1630					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L1630V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TAGTTGGCCAAGAAGTGAGAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	14											235	199	211					14																	68244362		2203	4300	6503	67314115	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4888T>G	14.37:g.68244362A>C	ENSP00000251119:p.Leu1630Val		67314115	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410102	0.62399	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.34072	1.55;1.38	5.5	3.13	0.36017	.	0.082634	0.50627	D	0.000101	T	0.50188	0.1601	M	0.71581	2.175	0.37289	D	0.908193	D;D	0.65815	0.995;0.993	D;P	0.63957	0.92;0.875	T	0.51236	-0.8731	10	0.31617	T	0.26	-7.3663	7.4705	0.27347	0.7465:0.0:0.2535:0.0	.	1630;1630	G3V2D8;Q68DK2	.;ZFY26_HUMAN	V	1630;1609;1630	ENSP00000251119:L1630V;ENSP00000450603:L1630V	ENSP00000251119:L1630V	L	-	1	2	ZFYVE26	67314115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.146000	0.31589	0.381000	0.24851	0.460000	0.39030	TTG		0.532	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		C	68244362	A	C	68244362	3	2	44	1	0	0	0	0	1	0	0	0	17668	69	3	5	2803	5	ZFYVE26	14	68244362	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	11406	68244362	39105178	70	2143											
FCF1	51077	hgsc.bcm.edu	37	14	75200825	75200825	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr14:75200825G>T	ENST00000341162.4	+	7	554	c.500G>T	c.(499-501)aGa>aTa	p.R167I	FCF1_ENST00000553615.1_Missense_Mutation_p.R152I|FCF1_ENST00000534938.2_Missense_Mutation_p.R155I	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	167					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.R167I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CTGAAAAGAAGAATCCGTAAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	14											119	94	102					14																	75200825		2203	4300	6503	74270578	SO:0001583	missense	51077			AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 111", "FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.500G>T	14.37:g.75200825G>T	ENSP00000344393:p.Arg167Ile		74270578	Q86TW8|Q8TBL8	Missense_Mutation	SNP	ENST00000341162.4	37	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	G	35	5.434793	0.96150	.	.	ENSG00000119616	ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	H	0.97315	3.98	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.80764	0.994;0.974	D	0.93475	0.6822	9	0.87932	D	0	.	18.8512	0.92230	0.0:0.0:1.0:0.0	.	167;152	Q9Y324;G3V5S9	FCF1_HUMAN;.	I	167;155;152	.	ENSP00000344393:R167I	R	+	2	0	FCF1	74270578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.349000	0.97066	2.621000	0.88768	0.655000	0.94253	AGA		0.403	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962		T	75200825	G	T	75200825	3	4	44	1	0	0	0	0	1	0	0	0	5777	942	33	3	526	3	FCF1	14	75200825	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	6956463	75200825	32148715	71	2144											
PAQR5	54852	hgsc.bcm.edu	37	15	69677130	69677130	+	Silent	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr15:69677130C>T	ENST00000340965.3	+	5	962	c.294C>T	c.(292-294)tcC>tcT	p.S98S	PAQR5_ENST00000395407.2_Silent_p.S98S|PAQR5_ENST00000561153.1_Silent_p.S98S|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	98					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)	p.S98S(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CACTTGTGTCCAGCTGTGCGC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	15											254	179	204					15																	69677130		2200	4298	6498	67464184	SO:0001819	synonymous_variant	54852				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.294C>T	15.37:g.69677130C>T			67464184	Q8IXU2	Silent	SNP	ENST00000340965.3	37	CCDS10232.1																																																																																				0.522	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		T	69677130	C	T	69677130	2	4	44	1	0	0	0	0	0	0	0	1	11438	581	21	2		2	PAQR5	15	69677130	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10		69677130	32854262	72	2145											
BNC1	646	hgsc.bcm.edu	37	15	83932832	83932832	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr15:83932832C>T	ENST00000345382.2	-	4	1256	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	BNC1_ENST00000569704.1_Missense_Mutation_p.G384R|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	391					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G391W(1)|p.G391R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATGTTACACCCTTCGATGGTG	0.507																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	15											150	135	140					15																	83932832		2203	4300	6503	81723836	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1171G>A	15.37:g.83932832C>T	ENSP00000307041:p.Gly391Arg		81723836	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668427	0.88348	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.62788	-0.0	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83138	-0.0110	10	0.87932	D	0	-34.7995	19.9598	0.97242	0.0:1.0:0.0:0.0	.	384;391	F5GY04;Q01954	.;BNC1_HUMAN	R	391;384	ENSP00000307041:G391R	ENSP00000307041:G391R	G	-	1	0	BNC1	81723836	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.755000	0.85180	2.716000	0.92895	0.655000	0.94253	GGG		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		T	83932832	C	T	83932832	3	4	44	1	0	0	0	0	1	0	0	0	1474	681	24	2	1821	2	BNC1	15	83932832	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	14255702	83932832	18598560	73	2146											
ZNF500	26048	hgsc.bcm.edu	37	16	4802730	4802730	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr16:4802730C>T	ENST00000219478.6	-	6	1389	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.D364N|RP11-127I20.7_ENST00000588099.1_RNA			O60304	ZN500_HUMAN	zinc finger protein 500	364					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.D364N(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						TTGGAGCGGTCGCTAAAGCCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											89	75	80					16																	4802730		2197	4300	6497	4742731	SO:0001583	missense	26048			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.1090G>A	16.37:g.4802730C>T	ENSP00000219478:p.Asp364Asn		4742731	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917716	0.52546	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07327	3.2;3.2	3.92	2.96	0.34315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	N	0.05383	-0.06	0.20873	N	0.999839	D;D	0.57899	0.981;0.981	P;P	0.53689	0.732;0.645	T	0.33420	-0.9869	9	0.18276	T	0.48	.	6.3083	0.21151	0.0:0.765:0.0:0.235	.	364;364	B4DNN9;O60304	.;ZN500_HUMAN	N	364	ENSP00000445714:D364N;ENSP00000219478:D364N	ENSP00000219478:D364N	D	-	1	0	ZNF500	4742731	0.000000	0.05858	0.997000	0.53966	0.996000	0.88848	-0.259000	0.08721	0.645000	0.30675	0.655000	0.94253	GAC		0.622	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		T	4802730	C	T	4802730	3	4	44	1	0	0	0	0	1	0	0	0	17948	884	31	1	356	1	ZNF500	16	4802730	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10		4802730	85552023	74	2147											
TEKT1	83659	hgsc.bcm.edu	37	17	6722512	6722512	+	Splice_Site	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr17:6722512C>A	ENST00000338694.2	-	3	485	c.356G>T	c.(355-357)aGg>aTg	p.R119M	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	119						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R119M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCGCTCCTACCTGTATGCCAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	17											134	122	126					17																	6722512		2203	4300	6503	6663236	SO:0001630	splice_region_variant	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.356+1G>T	17.37:g.6722512C>A			6663236	D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826419	0.71143	.	.	ENSG00000167858	ENST00000338694	T	0.26810	1.71	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74864	-0.3519	9	.	.	.	.	15.9542	0.79871	0.0:1.0:0.0:0.0	.	119	Q969V4	TEKT1_HUMAN	M	119	ENSP00000341346:R119M	.	R	-	2	0	TEKT1	6663236	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	6.657000	0.74402	2.424000	0.82194	0.655000	0.94253	AGG		0.453	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285	Missense_Mutation	A	6722512	C	A	6722512	5	1	44	1	0	0	0	0	0	0	1	0	15752	695	24	3	924	3	TEKT1	17	6722512	Splice_Site	SNP	C	TCGA-09-1665-01B-01W-0615-10		6722512	74472698	75	2148											
TP53	7157	hgsc.bcm.edu	37	17	7577506	7577506	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr17:7577506C>A	ENST00000269305.4	-	7	964	c.775G>T	c.(775-777)Gac>Tac	p.D259Y	TP53_ENST00000445888.2_Missense_Mutation_p.D259Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.D259Y|TP53_ENST00000413465.2_Missense_Mutation_p.D259Y|TP53_ENST00000359597.4_Missense_Mutation_p.D259Y|TP53_ENST00000455263.2_Missense_Mutation_p.D259Y	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	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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)	GACCTGGAGTCTTCCAGTGTG	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	51	Substitution - Missense(32)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Deletion - In frame(1)|Unknown(1)	ovary(10)|lung(8)|large_intestine(7)|oesophagus(6)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|thyroid(1)|stomach(1)|soft_tissue(1)|cervix(1)|urinary_tract(1)|breast(1)|skin(1)|eye(1)|autonomic_ganglia(1)	17											135	95	109					17																	7577506		2203	4300	6503	7518231	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.775G>T	17.37:g.7577506C>A	ENSP00000269305:p.Asp259Tyr		7518231	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635716	0.47049	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.52	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99667	0.9876	M	0.73962	2.25	0.46774	D	0.999194	B;D;B;B;D	0.76494	0.097;0.983;0.03;0.338;0.999	B;P;B;B;D	0.72075	0.191;0.847;0.093;0.29;0.976	D	0.97265	0.9907	10	0.72032	D	0.01	-22.926	15.1458	0.72650	0.0:1.0:0.0:0.0	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	Y	259;259;259;259;259;259;248;127	ENSP00000410739:D259Y;ENSP00000352610:D259Y;ENSP00000269305:D259Y;ENSP00000398846:D259Y;ENSP00000391127:D259Y;ENSP00000391478:D259Y;ENSP00000425104:D127Y	ENSP00000269305:D259Y	D	-	1	0	TP53	7518231	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	2.570000	0.45981	2.517000	0.84864	0.462000	0.41574	GAC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577506	C	A	7577506	3	1	44	1	0	0	0	0	1	0	0	0	16381	913	32	3	515	3	TP53	17	7577506	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	854994	7577506	73617704	76	2149											
ERBB2	2064	hgsc.bcm.edu	37	17	37881617	37881617	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr17:37881617G>A	ENST00000269571.5	+	22	2846	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H	ERBB2_ENST00000584450.1_Missense_Mutation_p.R896H|ERBB2_ENST00000541774.1_Missense_Mutation_p.R881H|ERBB2_ENST00000445658.2_Missense_Mutation_p.R620H|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.R866H|ERBB2_ENST00000406381.2_Missense_Mutation_p.R866H|ERBB2_ENST00000540147.1_Missense_Mutation_p.R866H			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	896	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.R896H(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TCCATTCTCCGCCGGCGGTTC	0.607		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	1	Substitution - Missense(1)	ovary(1)	17											65	65	65					17																	37881617		2203	4300	6503	35135143	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2687G>A	17.37:g.37881617G>A	ENSP00000269571:p.Arg896His		35135143	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534053	0.45073	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.62	3.53	0.40419	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.29684	0.0741	N	0.03983	-0.305	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23726	-1.0180	9	0.02654	T	1	.	6.9134	0.24347	0.1528:0.1449:0.7022:0.0	.	620;881;896	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	H	866;881;620;896;866	ENSP00000385185:R866H;ENSP00000446466:R881H;ENSP00000404047:R620H;ENSP00000269571:R896H;ENSP00000443562:R866H	ENSP00000269571:R896H	R	+	2	0	ERBB2	35135143	0.947000	0.32204	0.996000	0.52242	0.951000	0.60555	2.095000	0.41729	1.382000	0.46385	0.563000	0.77884	CGC		0.607	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			A	37881617	G	A	37881617	3	1	44	1	0	0	0	0	1	0	0	0	5206	1087	38	1	2773	1	ERBB2	17	37881617	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	30304111	37881617	43313593	77	2150											
FTSJ3	5705	hgsc.bcm.edu	37	17	61903952	61903952	+	5'Flank	SNP	C	C	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr17:61903952C>A	ENST00000310144.6	+	0	0				PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000581882.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_Missense_Mutation_p.D50Y	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.D50Y(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCACACAGGTCCAGCAAGGCT	0.567																																																1	Substitution - Missense(1)	ovary(1)	17											51	50	50					17																	61903952		2203	4300	6503	59257684	SO:0001631	upstream_gene_variant	117246			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903952C>A	Exception_encountered		59257684	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959442	0.53400	.	.	ENSG00000108592	ENST00000427159	D	0.82167	-1.58	5.51	4.54	0.55810	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	D	0.95268	0.8465	H	0.99712	4.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97115	0.9807	10	0.87932	D	0	-21.2227	14.2006	0.65703	0.0:0.8496:0.1504:0.0	.	50	Q8IY81	RRMJ3_HUMAN	Y	50	ENSP00000396673:D50Y	ENSP00000396673:D50Y	D	-	1	0	FTSJ3	59257684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.808000	0.75206	1.552000	0.49463	0.561000	0.74099	GAC		0.567	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		A	61903952	C	A	61903952	1	1	44	0	1	0	0	0	0	0	0	0	6089	855	30	3		3	FTSJ3	17	61903952	5'Flank	SNP	C	TCGA-09-1665-01B-01W-0615-10	24022335	61903952	19291258	78	2151											
ALPK2	115701	hgsc.bcm.edu	37	18	56191190	56191190	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr18:56191190G>A	ENST00000361673.3	-	7	5819	c.5606C>T	c.(5605-5607)gCt>gTt	p.A1869V		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1869	Ig-like 2.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A1230V(1)|p.A1869V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTAAATTCAGCAGTCACTTT	0.488																																																2	Substitution - Missense(2)	ovary(2)	18											124	114	118					18																	56191190		2203	4300	6503	54342170	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5606C>T	18.37:g.56191190G>A	ENSP00000354991:p.Ala1869Val		54342170	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749982	0.49257	.	.	ENSG00000198796	ENST00000361673	T	0.69040	-0.37	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Protein kinase-like domain (1);Immunoglobulin-like fold (1);	0.309163	0.29212	N	0.012808	T	0.80303	0.4598	M	0.68952	2.095	0.28615	N	0.908482	P	0.49862	0.929	P	0.61477	0.889	T	0.76005	-0.3117	10	0.87932	D	0	-3.8443	19.2367	0.93864	0.0:0.0:1.0:0.0	.	1869	Q86TB3	ALPK2_HUMAN	V	1869	ENSP00000354991:A1869V	ENSP00000354991:A1869V	A	-	2	0	ALPK2	54342170	1.000000	0.71417	0.681000	0.30009	0.354000	0.29330	6.004000	0.70709	2.629000	0.89072	0.650000	0.86243	GCT		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		A	56191190	G	A	56191190	3	1	44	1	0	0	0	0	1	0	0	0	545	971	34	2	934	2	ALPK2	18	56191190	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10		56191190	21886058	79	2152											
ZNF563	147837	hgsc.bcm.edu	37	19	12429870	12429870	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr19:12429870G>C	ENST00000293725.5	-	4	1174	c.969C>G	c.(967-969)agC>agG	p.S323R		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S323R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTATCTGAAAGCTTCCAAGAT	0.423																																					GBM(39;623 795 5132 29510 31476)											1	Substitution - Missense(1)	ovary(1)	19											176	166	170					19																	12429870		2203	4300	6503	12290870	SO:0001583	missense	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.969C>G	19.37:g.12429870G>C	ENSP00000293725:p.Ser323Arg		12290870	B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037907	0.35989	.	.	ENSG00000188868	ENST00000293725	T	0.15834	2.39	0.84	-1.68	0.08212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.49699	1.58	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13710	-1.0499	9	0.45353	T	0.12	.	5.3318	0.15936	0.7962:0.0:0.2038:0.0	.	323	Q8TA94	ZN563_HUMAN	R	323	ENSP00000293725:S323R	ENSP00000293725:S323R	S	-	3	2	ZNF563	12290870	0.000000	0.05858	0.009000	0.14445	0.472000	0.32918	-3.674000	0.00396	-0.327000	0.08551	-0.657000	0.03884	AGC		0.423	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		C	12429870	G	C	12429870	3	2	44	1	0	0	0	0	1	0	0	0	17994	962	34	3	465	3	ZNF563	19	12429870	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10		12429870	46699113	80	2153											
ZNF333	84449	hgsc.bcm.edu	37	19	14829061	14829061	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr19:14829061A>G	ENST00000292530.6	+	12	1013	c.922A>G	c.(922-924)Aaa>Gaa	p.K308E	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.K199E	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K308E(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GCCTGGAGAAAAACTCTATAA	0.393																																					NSCLC(60;75 1281 16985 25154 29885)											1	Substitution - Missense(1)	ovary(1)	19											49	50	49					19																	14829061		2203	4300	6503	14690061	SO:0001583	missense	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.922A>G	19.37:g.14829061A>G	ENSP00000292530:p.Lys308Glu		14690061	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261197	0.39995	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.63913	4.5;-0.07	3.29	-3.19	0.05171	.	.	.	.	.	T	0.63593	0.2524	M	0.93241	3.395	0.09310	N	1	B	0.30068	0.267	B	0.22386	0.039	T	0.58476	-0.7630	9	0.87932	D	0	.	5.6744	0.17741	0.3738:0.474:0.1522:0.0	.	308	Q96JL9	ZN333_HUMAN	E	199;308	ENSP00000439749:K199E;ENSP00000292530:K308E	ENSP00000292530:K308E	K	+	1	0	ZNF333	14690061	0.433000	0.25562	0.000000	0.03702	0.275000	0.26752	3.428000	0.52792	-1.000000	0.03438	0.377000	0.23210	AAA		0.393	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		G	14829061	A	G	14829061	3	3	44	1	0	0	0	0	1	0	0	0	17850	15	1	4	964	4	ZNF333	19	14829061	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	2399191	14829061	44299922	81	2154											
MARK4	57787	hgsc.bcm.edu	37	19	45783945	45783945	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr19:45783945G>A	ENST00000262891.4	+	12	1560	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	MARK4_ENST00000300843.4_Missense_Mutation_p.R410Q	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	410					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.R410Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AAAGGGCAGCGGAGTTCCTCT	0.662																																																1	Substitution - Missense(1)	ovary(1)	19											97	78	85					19																	45783945		2203	4300	6503	50475785	SO:0001583	missense	57787			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1229G>A	19.37:g.45783945G>A	ENSP00000262891:p.Arg410Gln		50475785	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376741	0.95945	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.35421	1.31;1.31	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.62877	0.2464	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	P;D;D	0.75484	0.769;0.978;0.986	T	0.62656	-0.6808	10	0.52906	T	0.07	.	17.7884	0.88545	0.0:0.0:1.0:0.0	.	276;410;410	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	Q	410	ENSP00000262891:R410Q;ENSP00000300843:R410Q	ENSP00000262891:R410Q	R	+	2	0	MARK4	50475785	1.000000	0.71417	0.993000	0.49108	0.939000	0.58152	6.619000	0.74219	2.804000	0.96469	0.462000	0.41574	CGG		0.662	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		A	45783945	G	A	45783945	3	1	44	1	0	0	0	0	1	0	0	0	9315	1116	39	1	1275	1	MARK4	19	45783945	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	30954884	45783945	13345038	82	2155											
ZNF211	10520	hgsc.bcm.edu	37	19	58152755	58152755	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr19:58152755A>C	ENST00000347302.3	+	3	1080	c.901A>C	c.(901-903)Att>Ctt	p.I301L	ZNF211_ENST00000544273.1_Missense_Mutation_p.I313L|ZNF211_ENST00000391703.3_Missense_Mutation_p.I240L|ZNF211_ENST00000299871.5_Missense_Mutation_p.I366L|ZNF211_ENST00000240731.4_Missense_Mutation_p.I314L|ZNF211_ENST00000541801.1_Missense_Mutation_p.I292L|ZNF211_ENST00000254182.7_Missense_Mutation_p.I292L|ZNF211_ENST00000420680.1_Missense_Mutation_p.I305L	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I314L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCAGTTTCATTATACATCA	0.413																																																1	Substitution - Missense(1)	ovary(1)	19											80	77	78					19																	58152755		2203	4300	6503	62844567	SO:0001583	missense	10520			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.901A>C	19.37:g.58152755A>C	ENSP00000339562:p.Ile301Leu		62844567	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.24|11.24	1.581171|1.581171	0.28180|0.28180	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.14640	.|2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	3.67|3.67	-1.41|-1.41	0.08941|0.08941	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.06188|0.06188	0.0160|0.0160	N|N	0.13043|0.13043	0.29|0.29	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.33318	.|0.009;0.009;0.408;0.009;0.011;0.011	.|B;B;B;B;B;B	.|0.27170	.|0.008;0.008;0.077;0.008;0.014;0.014	T|T	0.32745|0.32745	-0.9895|-0.9895	5|9	.|0.40728	.|T	.|0.16	.|.	5.6889|5.6889	0.17819|0.17819	0.3927:0.427:0.1803:0.0|0.3927:0.427:0.1803:0.0	.|.	.|305;313;366;292;301;314	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	P|L	304|305;301;292;240;292;366;313;314	.|ENSP00000399193:I305L;ENSP00000339562:I301L;ENSP00000254182:I292L;ENSP00000375584:I240L;ENSP00000442601:I292L;ENSP00000299871:I366L;ENSP00000441386:I313L;ENSP00000240731:I314L	.|ENSP00000240731:I314L	H|I	+|+	2|1	0|0	ZNF211|ZNF211	62844567|62844567	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.985000|0.985000	0.73830|0.73830	-0.778000|-0.778000	0.04664|0.04664	-0.510000|-0.510000	0.06523|0.06523	0.472000|0.472000	0.43445|0.43445	CAT|ATT		0.413	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			C	58152755	A	C	58152755	3	2	44	1	0	0	0	0	1	0	0	0	17767	217	8	5	954	5	ZNF211	19	58152755	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	12368810	58152755	976228	83	2156											
C20orf54	113278	hgsc.bcm.edu	37	20	744283	744283	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr20:744283T>C	ENST00000217254.7	-	3	1173	c.932A>G	c.(931-933)aAc>aGc	p.N311S	SLC52A3_ENST00000381944.3_Missense_Mutation_p.N311S|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	311					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.N311S(1)									GGTGAGCGCGTTGACGAAGGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	20											129	106	114					20																	744283		2203	4300	6503	692283	SO:0001583	missense	113278			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.932A>G	20.37:g.744283T>C	ENSP00000217254:p.Asn311Ser		692283	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753796	0.49362	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.74421	-0.84;-0.84	5.07	5.07	0.68467	.	0.085679	0.85682	D	0.000000	T	0.78691	0.4323	L	0.53617	1.68	0.80722	D	1	D;D	0.63880	0.98;0.993	P;P	0.61940	0.753;0.896	T	0.76217	-0.3040	10	0.29301	T	0.29	-23.7881	9.0922	0.36619	0.0:0.0871:0.0:0.9129	.	311;311	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	S	311	ENSP00000217254:N311S;ENSP00000371370:N311S	ENSP00000217254:N311S	N	-	2	0	C20orf54	692283	1.000000	0.71417	0.885000	0.34714	0.088000	0.18126	5.071000	0.64382	1.912000	0.55364	0.459000	0.35465	AAC		0.637	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		C	744283	T	C	744283	3	2	44	1	0	0	0	0	1	0	0	0	2114	1725	60	4	489	4	C20orf54	20	744283	Missense_Mutation	SNP	T	TCGA-09-1665-01B-01W-0615-10		744283	62281237	84	2157											
GPCPD1	56261	hgsc.bcm.edu	37	20	5556594	5556594	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr20:5556594C>T	ENST00000379019.4	-	9	948	c.736G>A	c.(736-738)Gat>Aat	p.D246N	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	246					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)	p.D246N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GGAAGGGCATCACCCTGAACT	0.393																																																1	Substitution - Missense(1)	ovary(1)	20											81	71	75					20																	5556594		2203	4300	6503	5504594	SO:0001583	missense	56261				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.736G>A	20.37:g.5556594C>T	ENSP00000368305:p.Asp246Asn		5504594	D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919451	0.73098	.	.	ENSG00000125772	ENST00000379019	T	0.49139	0.79	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.29908	0.895	0.80722	D	1	P	0.37636	0.603	B	0.34489	0.184	T	0.17653	-1.0362	10	0.33141	T	0.24	-22.9868	19.3281	0.94270	0.0:1.0:0.0:0.0	.	246	Q9NPB8	GPCP1_HUMAN	N	246	ENSP00000368305:D246N	ENSP00000368305:D246N	D	-	1	0	GPCPD1	5504594	1.000000	0.71417	0.978000	0.43139	0.878000	0.50629	7.776000	0.85560	2.629000	0.89072	0.650000	0.86243	GAT		0.393	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		T	5556594	C	T	5556594	3	4	44	1	0	0	0	0	1	0	0	0	6603	826	29	2	1330	2	GPCPD1	20	5556594	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	4812311	5556594	57468926	85	2158											
PLCB1	23236	hgsc.bcm.edu	37	20	8698361	8698361	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr20:8698361A>G	ENST00000338037.6	+	14	1406	c.1379A>G	c.(1378-1380)tAt>tGt	p.Y460C	PLCB1_ENST00000378641.3_Missense_Mutation_p.Y460C|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.Y460C	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	460	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.Y460C(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GATTTAATGTATAAAATTTTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	20											78	85	83					20																	8698361		2203	4300	6503	8646361	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1379A>G	20.37:g.8698361A>G	ENSP00000338185:p.Tyr460Cys		8646361	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500174	0.44455	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.53206	0.63;0.63;0.63	5.85	5.85	0.93711	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.157589	0.64402	D	0.000018	T	0.56426	0.1984	L	0.49640	1.575	0.42098	D	0.991322	D;D	0.61697	0.976;0.99	P;P	0.58970	0.84;0.849	T	0.56420	-0.7982	10	0.40728	T	0.16	.	11.3034	0.49320	0.9296:0.0:0.0704:0.0	.	460;460	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	C	460;460;460;380;380	ENSP00000367908:Y460C;ENSP00000338185:Y460C;ENSP00000367904:Y460C	ENSP00000338185:Y460C	Y	+	2	0	PLCB1	8646361	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.392000	0.59659	2.234000	0.73211	0.533000	0.62120	TAT		0.393	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			G	8698361	A	G	8698361	3	3	44	1	0	0	0	0	1	0	0	0	12027	449	16	4	1433	4	PLCB1	20	8698361	Missense_Mutation	SNP	A	TCGA-09-1665-01B-01W-0615-10	3141767	8698361	54327159	86	2159											
KIAA0406	9675	hgsc.bcm.edu	37	20	36641604	36641604	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr20:36641604C>G	ENST00000373448.2	-	3	853	c.615G>C	c.(613-615)ttG>ttC	p.L205F	TTI1_ENST00000449821.1_Missense_Mutation_p.L205F|TTI1_ENST00000373447.3_Missense_Mutation_p.L205F|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	205					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L205F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGAGGCAAACAAATCCCCCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	20											74	76	75					20																	36641604		2203	4300	6503	36075018	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.615G>C	20.37:g.36641604C>G	ENSP00000362547:p.Leu205Phe		36075018	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980536	0.34942	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.15718	2.4;2.4;2.4	5.45	3.54	0.40534	Armadillo-like helical (1);Armadillo-type fold (1);	0.188176	0.48767	D	0.000174	T	0.36441	0.0967	M	0.72118	2.19	0.42105	D	0.991357	D	0.71674	0.998	D	0.65443	0.935	T	0.11690	-1.0577	10	0.52906	T	0.07	-20.1706	11.3495	0.49579	0.0:0.8546:0.0:0.1454	.	205	O43156	TTI1_HUMAN	F	205	ENSP00000362547:L205F;ENSP00000362546:L205F;ENSP00000407270:L205F	ENSP00000362546:L205F	L	-	3	2	TTI1	36075018	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	1.380000	0.34351	0.875000	0.35847	-0.142000	0.14014	TTG		0.428	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		G	36641604	C	G	36641604	3	3	44	1	0	0	0	0	1	0	0	0	8173	477	17	3	2682	3	KIAA0406	20	36641604	Missense_Mutation	SNP	C	TCGA-09-1665-01B-01W-0615-10	27943243	36641604	26383916	87	2160											
MYBL2	4605	hgsc.bcm.edu	37	20	42343841	42343841	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr20:42343841T>C	ENST00000217026.4	+	13	2019	c.1892T>C	c.(1891-1893)cTc>cCc	p.L631P	MYBL2_ENST00000396863.4_Missense_Mutation_p.L607P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	631					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L631P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AACAGCTTGCTCAACCAGGGC	0.562																																																1	Substitution - Missense(1)	ovary(1)	20											173	179	177					20																	42343841		2203	4300	6503	41777255	SO:0001583	missense	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1892T>C	20.37:g.42343841T>C	ENSP00000217026:p.Leu631Pro		41777255	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657822	0.67586	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.18174	2.23;2.24	4.44	4.44	0.53790	.	0.171732	0.38005	N	0.001853	T	0.32071	0.0817	L	0.59436	1.845	0.80722	D	1	P;D	0.63046	0.669;0.992	B;P	0.60789	0.239;0.879	T	0.02588	-1.1137	10	0.48119	T	0.1	-21.8446	11.5436	0.50679	0.0:0.0:0.0:1.0	.	607;631	F8W6N6;P10244	.;MYBB_HUMAN	P	607;631	ENSP00000380072:L607P;ENSP00000217026:L631P	ENSP00000217026:L631P	L	+	2	0	MYBL2	41777255	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.273000	0.65564	1.775000	0.52247	0.402000	0.26972	CTC		0.562	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		C	42343841	T	C	42343841	3	2	44	1	0	0	0	0	1	0	0	0	10010	1551	54	4	1942	4	MYBL2	20	42343841	Missense_Mutation	SNP	T	TCGA-09-1665-01B-01W-0615-10	5702237	42343841	20681679	88	2161											
ITSN1	6453	hgsc.bcm.edu	37	21	35254666	35254666	+	Silent	SNP	C	C	G			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chr21:35254666C>G	ENST00000381318.3	+	35	4749	c.4461C>G	c.(4459-4461)ctC>ctG	p.L1487L	ITSN1_ENST00000381285.4_Silent_p.L1487L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.L1426L|ITSN1_ENST00000399367.3_Silent_p.L1482L|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1487	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1487L(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACGACTTCCTCCTGCTGACTC	0.478																																																1	Substitution - coding silent(1)	ovary(1)	21											72	68	69					21																	35254666		2203	4300	6503	34176536	SO:0001819	synonymous_variant	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4461C>G	21.37:g.35254666C>G			34176536	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	8.964	0.971366	0.18736	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.8	-0.665	0.11403	.	.	.	.	.	T	0.54240	0.1846	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46582	-0.9181	4	.	.	.	.	8.2616	0.31788	0.0:0.3797:0.4342:0.1862	.	.	.	.	A	167	.	.	P	+	1	0	ITSN1	34176536	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	0.359000	0.20233	-0.145000	0.11294	0.655000	0.94253	CCT		0.478	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		G	35254666	C	G	35254666	2	3	44	1	0	0	0	0	0	0	0	1	7926	842	30	3		3	ITSN1	21	35254666	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10		35254666	12875229	89	2162											
KAL1	3730	hgsc.bcm.edu	37	X	8591675	8591675	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chrX:8591675T>C	ENST00000262648.3	-	3	441	c.292A>G	c.(292-294)Aaa>Gaa	p.K98E		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	98					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.K98E(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CACTGGTGTTTCCTCAGGTCC	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											133	96	108					X																	8591675		2203	4300	6503	8551675	SO:0001583	missense	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.292A>G	X.37:g.8591675T>C	ENSP00000262648:p.Lys98Glu		8551675	B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	T	7.751	0.703344	0.15172	.	.	ENSG00000011201	ENST00000262648	T	0.74737	-0.87	4.55	4.55	0.56014	.	0.239554	0.43416	N	0.000570	T	0.56848	0.2013	N	0.17082	0.46	0.25441	N	0.988094	B	0.06786	0.001	B	0.10450	0.005	T	0.47182	-0.9137	10	0.34782	T	0.22	.	9.5211	0.39135	0.0:0.0:0.0:1.0	.	98	P23352	KALM_HUMAN	E	98	ENSP00000262648:K98E	ENSP00000262648:K98E	K	-	1	0	KAL1	8551675	1.000000	0.71417	0.404000	0.26397	0.881000	0.50899	2.946000	0.49050	1.506000	0.48736	0.486000	0.48141	AAA		0.438	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		C	8591675	T	C	8591675	3	2	44	1	0	0	0	0	1	0	0	0	7974	1792	62	4	1798	4	KAL1	23	8591675	Missense_Mutation	SNP	T	TCGA-09-1665-01B-01W-0615-10		8591675	146678885	90	2163											
MAGEB6	158809	hgsc.bcm.edu	37	X	26212648	26212648	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chrX:26212648T>A	ENST00000379034.1	+	2	834	c.685T>A	c.(685-687)Tac>Aac	p.Y229N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	229	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Y229N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCGCAGAGAGTACAAGCCCTA	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											82	67	72					X																	26212648		2202	4300	6502	26122569	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.685T>A	X.37:g.26212648T>A	ENSP00000368320:p.Tyr229Asn		26122569	Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.046578	0.36085	.	.	ENSG00000176746	ENST00000379034	T	0.04917	3.53	3.1	1.94	0.25998	.	0.000000	0.64402	U	0.000002	T	0.21307	0.0513	M	0.85041	2.73	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04427	-1.0952	10	0.72032	D	0.01	.	4.3283	0.11051	0.0:0.1599:0.0:0.8401	.	229	Q8N7X4	MAGB6_HUMAN	N	229	ENSP00000368320:Y229N	ENSP00000368320:Y229N	Y	+	1	0	MAGEB6	26122569	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.112000	0.15479	0.450000	0.26774	0.481000	0.45027	TAC		0.488	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		A	26212648	T	A	26212648	3	1	44	1	0	0	0	0	1	0	0	0	9179	1638	57	5	687	5	MAGEB6	23	26212648	Missense_Mutation	SNP	T	TCGA-09-1665-01B-01W-0615-10	17620973	26212648	129057912	91	2164											
MTMR8	55613	hgsc.bcm.edu	37	X	63574684	63574684	+	Silent	SNP	G	G	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chrX:63574684G>T	ENST00000374852.3	-	4	508	c.441C>A	c.(439-441)acC>acA	p.T147T	MTMR8_ENST00000453546.1_Silent_p.T147T	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	147	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.T147T(1)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CATCTGTTATGGTCCAGTTTC	0.383																																																2	Whole gene deletion(1)|Substitution - coding silent(1)	ovary(2)	X											158	126	137					X																	63574684		2203	4300	6503	63491409	SO:0001819	synonymous_variant	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.441C>A	X.37:g.63574684G>T			63491409	Q5JT99|Q9NXP6	Silent	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	5.532	0.283084	0.10458	.	.	ENSG00000102043	ENST00000442913	.	.	.	2.67	-0.0836	0.13693	.	.	.	.	.	T	0.39253	0.1071	.	.	.	0.37707	D	0.924424	.	.	.	.	.	.	T	0.30621	-0.9972	4	.	.	.	.	0.6212	0.00778	0.3589:0.1685:0.3002:0.1724	.	.	.	.	N	64	.	.	H	-	1	0	MTMR8	63491409	0.973000	0.33851	0.970000	0.41538	0.879000	0.50718	0.044000	0.13992	-0.151000	0.11176	-1.167000	0.01749	CAT		0.383	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		T	63574684	G	T	63574684	2	4	44	1	0	0	0	0	0	0	0	1	9949	1335	47	3		3	MTMR8	23	63574684	Silent	SNP	G	TCGA-09-1665-01B-01W-0615-10	37362036	63574684	91695876	92	2165											
ARR3	407	hgsc.bcm.edu	37	X	69489735	69489735	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chrX:69489735G>C	ENST00000307959.8	+	4	133	c.82G>C	c.(82-84)Gac>Cac	p.D28H	ARR3_ENST00000374495.3_Missense_Mutation_p.D28H	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	28					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.D28H(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GGACCATGTGGACACGGTGGA	0.483																																																1	Substitution - Missense(1)	ovary(1)	X											43	36	38					X																	69489735		2203	4300	6503	69406460	SO:0001583	missense	407				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.82G>C	X.37:g.69489735G>C	ENSP00000311538:p.Asp28His		69406460	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850686	0.71719	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.16073	2.37;2.37	4.64	4.64	0.57946	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.202310	0.49916	D	0.000128	T	0.39226	0.1070	M	0.72479	2.2	0.53688	D	0.999975	D;D	0.69078	0.997;0.993	D;P	0.63877	0.919;0.898	T	0.30475	-0.9977	10	0.62326	D	0.03	.	15.6287	0.76885	0.0:0.0:1.0:0.0	.	28;28	P36575;P36575-2	ARRC_HUMAN;.	H	28	ENSP00000363619:D28H;ENSP00000311538:D28H	ENSP00000311538:D28H	D	+	1	0	ARR3	69406460	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.830000	0.62745	2.138000	0.66242	0.600000	0.82982	GAC		0.483	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		C	69489735	G	C	69489735	3	2	44	1	0	0	0	0	1	0	0	0	979	1174	41	3	92	3	ARR3	23	69489735	Missense_Mutation	SNP	G	TCGA-09-1665-01B-01W-0615-10	5915051	69489735	85780825	93	2166											
TEX11	56159	hgsc.bcm.edu	37	X	69826842	69826842	+	Silent	SNP	C	C	T			TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chrX:69826842C>T	ENST00000395889.2	-	24	2117	c.1962G>A	c.(1960-1962)gtG>gtA	p.V654V	TEX11_ENST00000374333.2_Silent_p.V639V|TEX11_ENST00000344304.3_Silent_p.V654V|TEX11_ENST00000374320.2_Silent_p.V329V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	654					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.V639V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTCTCATCATCACTGGATCTT	0.313																																																1	Substitution - coding silent(1)	ovary(1)	X											58	53	55					X																	69826842		2202	4293	6495	69743567	SO:0001819	synonymous_variant	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1962G>A	X.37:g.69826842C>T			69743567	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	CCDS35323.1																																																																																				0.313	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			T	69826842	C	T	69826842	2	4	44	1	0	0	0	0	0	0	0	1	15774	813	29	2		2	TEX11	23	69826842	Silent	SNP	C	TCGA-09-1665-01B-01W-0615-10	337107	69826842	85443718	94	2167											
COL4A6	1288	hgsc.bcm.edu	37	X	107406237	107406237	+	Silent	SNP	T	T	C	rs149076650	byFrequency	TCGA-09-1665-01B-01W-0615-10	TCGA-09-1665-11B-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fc8fb51-b955-4c2b-afad-0175835e70d1	0bb49442-38ba-4eb0-8eda-780255c19045	g.chrX:107406237T>C	ENST00000372216.4	-	41	4204	c.4104A>G	c.(4102-4104)caA>caG	p.Q1368Q	COL4A6_ENST00000394872.2_Silent_p.Q1368Q|COL4A6_ENST00000334504.7_Silent_p.Q1367Q|COL4A6_ENST00000538570.1_Silent_p.Q1310Q|COL4A6_ENST00000545689.1_Silent_p.Q1343Q	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1368	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.Q1367Q(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGTTGGTGTTTGTCCAGGAT	0.622									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - coding silent(1)	ovary(1)	X						T	,	0,3835		0,0,0,1632,571	98	92	94		4104,4101	-1.3	0.7	X	dbSNP_134	94	2,6726		0,1,1,2427,1871	no	coding-synonymous,coding-synonymous	COL4A6	NM_001847.2,NM_033641.2	,	0,1,1,4059,2442	CC,CT,C,TT,T		0.0297,0.0,0.0189	,	1368/1692,1367/1691	107406237	2,10561	2203	4300	6503	107292893	SO:0001819	synonymous_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4104A>G	X.37:g.107406237T>C			107292893	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																				0.622	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			C	107406237	T	C	107406237	2	2	44	1	0	0	0	0	0	0	0	1	3695	1838	64	4		4	COL4A6	23	107406237	Silent	SNP	T	TCGA-09-1665-01B-01W-0615-10	37579395	107406237	47864323	95	2168											
PLB1	151056	hgsc.bcm.edu	37	2	28849343	28849343	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr2:28849343G>T	ENST00000327757.5	+	51	3672	c.3628G>T	c.(3628-3630)Gtc>Ttc	p.V1210F	PLB1_ENST00000541605.1_Missense_Mutation_p.V175F|PLB1_ENST00000422425.2_Missense_Mutation_p.V1199F	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1210	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.V1210F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTTCATTGGGGTCAACGACTT	0.542																																																1	Substitution - Missense(1)	ovary(1)	2											156	135	142					2																	28849343		2203	4300	6503	28702847	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3628G>T	2.37:g.28849343G>T	ENSP00000330442:p.Val1210Phe		28702847	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650247	0.29336	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605	T;T;T	0.14144	2.53;2.53;2.53	5.41	-1.81	0.07882	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.866114	0.10428	N	0.675828	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	P;P	0.52316	0.941;0.952	P;P	0.51229	0.532;0.663	T	0.38499	-0.9658	10	0.23891	T	0.37	-0.0134	10.8265	0.46635	0.7507:0.0:0.2493:0.0	.	1199;1210	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	F	1210;1199;175	ENSP00000330442:V1210F;ENSP00000416440:V1199F;ENSP00000437426:V175F	ENSP00000330442:V1210F	V	+	1	0	PLB1	28702847	0.988000	0.35896	0.032000	0.17829	0.166000	0.22503	0.413000	0.21148	-0.206000	0.10203	-0.350000	0.07774	GTC		0.542	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			T	28849343	G	T	28849343	3	4	45	1	0	0	0	0	1	0	0	0	12024	1261	44	3	3863	3	PLB1	2	28849343	Missense_Mutation	SNP	G	TCGA-09-1666-01A-01W-0615-10		28849343	214350030	1	2169											
ABCA12	26154	hgsc.bcm.edu	37	2	215914348	215914348	+	Splice_Site	SNP	A	A	T			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr2:215914348A>T	ENST00000272895.7	-	6	913		c.e6+1			NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.?(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCTACACTCACCTGGGAGAA	0.383																																					Ovarian(66;664 1488 5121 34295)											1	Unknown(1)	ovary(1)	2											70	68	69					2																	215914348		2203	4300	6503	215622593	SO:0001630	splice_region_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.693+1T>A	2.37:g.215914348A>T			215622593	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Splice_Site	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035200	0.75617	.	.	ENSG00000144452	ENST00000272895	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.874	0.63643	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA12	215622593	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.964000	0.63701	2.323000	0.78572	0.533000	0.62120	.		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Intron	T	215914348	A	T	215914348	5	4	45	1	0	0	0	0	0	0	1	0	30	173	6	5	7315	5	ABCA12	2	215914348	Splice_Site	SNP	A	TCGA-09-1666-01A-01W-0615-10	187065005	215914348	27285025	2	2170											
TNS1	7145	hgsc.bcm.edu	37	2	218712478	218712478	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr2:218712478T>C	ENST00000171887.4	-	17	2839	c.2387A>G	c.(2386-2388)tAt>tGt	p.Y796C	TNS1_ENST00000419504.1_Missense_Mutation_p.Y796C|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Missense_Mutation_p.Y796C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	796					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.Y796C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGATAGTCATAAGGTGAGTA	0.577																																																1	Substitution - Missense(1)	ovary(1)	2											70	57	62					2																	218712478		2203	4300	6503	218420723	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2387A>G	2.37:g.218712478T>C	ENSP00000171887:p.Tyr796Cys		218420723	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899790	0.33535	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930	D;D;D	0.91521	-2.85;-2.86;-2.85	4.11	4.11	0.48088	.	0.170785	0.22544	U	0.058699	D	0.90058	0.6895	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.998;0.998;0.999;0.998	P;P;P;P;P	0.61592	0.891;0.818;0.818;0.887;0.818	D	0.90623	0.4561	10	0.54805	T	0.06	.	13.2705	0.60157	0.0:0.0:0.0:1.0	.	796;850;796;796;796	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	C	796	ENSP00000171887:Y796C;ENSP00000408724:Y796C;ENSP00000406016:Y796C	ENSP00000171887:Y796C	Y	-	2	0	TNS1	218420723	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	4.220000	0.58567	1.705000	0.51264	0.379000	0.24179	TAT		0.577	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		C	218712478	T	C	218712478	3	2	45	1	0	0	0	0	1	0	0	0	16343	1406	49	4	2888	4	TNS1	2	218712478	Missense_Mutation	SNP	T	TCGA-09-1666-01A-01W-0615-10	2798130	218712478	24486895	3	2171											
C3orf20	84077	hgsc.bcm.edu	37	3	14768465	14768465	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr3:14768465G>T	ENST00000253697.3	+	11	2076	c.1624G>T	c.(1624-1626)Gct>Tct	p.A542S	C3orf20_ENST00000435614.1_Missense_Mutation_p.A420S|C3orf20_ENST00000412910.1_Missense_Mutation_p.A420S	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	542						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A542S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCGAGCCCTGGCTGAGATCAA	0.542																																																1	Substitution - Missense(1)	ovary(1)	3											122	111	115					3																	14768465		2203	4300	6503	14743469	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1624G>T	3.37:g.14768465G>T	ENSP00000253697:p.Ala542Ser		14743469	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781505	0.49891	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.11495	2.77;2.77;2.77	5.05	3.2	0.36748	.	0.604547	0.14832	N	0.295786	T	0.14527	0.0351	M	0.63428	1.95	0.23089	N	0.998317	P;P	0.50156	0.872;0.932	P;P	0.45856	0.495;0.495	T	0.12863	-1.0531	10	0.66056	D	0.02	-5.3936	6.4788	0.22051	0.0976:0.1839:0.7184:0.0	.	420;542	Q8ND61-2;Q8ND61	.;CC020_HUMAN	S	542;420;420	ENSP00000253697:A542S;ENSP00000402933:A420S;ENSP00000396081:A420S	ENSP00000253697:A542S	A	+	1	0	C3orf20	14743469	0.896000	0.30565	0.356000	0.25785	0.874000	0.50279	1.423000	0.34837	0.677000	0.31305	0.491000	0.48974	GCT		0.542	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		T	14768465	G	T	14768465	3	4	45	1	0	0	0	0	1	0	0	0	2213	1203	42	3	1658	3	C3orf20	3	14768465	Missense_Mutation	SNP	G	TCGA-09-1666-01A-01W-0615-10		14768465	183253965	4	2172											
APEH	327	hgsc.bcm.edu	37	3	49712671	49712671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr3:49712671C>A	ENST00000296456.5	+	3	601	c.201C>A	c.(199-201)taC>taA	p.Y67*	APEH_ENST00000438011.1_Nonsense_Mutation_p.Y67*	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	67					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.Y67*(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCGCCAATACCTGGTGTTCC	0.577																																																1	Substitution - Nonsense(1)	ovary(1)	3											111	96	101					3																	49712671		2203	4300	6503	49687675	SO:0001587	stop_gained	327			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.201C>A	3.37:g.49712671C>A	ENSP00000296456:p.Tyr67*		49687675	Q9BQ33|Q9P0Y2	Nonsense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	38	6.926449	0.97940	.	.	ENSG00000164062	ENST00000296456;ENST00000438011;ENST00000457042	.	.	.	4.63	1.67	0.24075	.	0.125794	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.1109	9.8844	0.41253	0.0:0.7496:0.0:0.2504	.	.	.	.	X	67;67;64	.	ENSP00000296456:Y67X	Y	+	3	2	APEH	49687675	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.431000	0.44775	0.450000	0.26774	0.655000	0.94253	TAC		0.577	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			A	49712671	C	A	49712671	4	1	45	1	0	0	0	0	0	1	0	0	768	518	18	3	211	3	APEH	3	49712671	Nonsense_Mutation	SNP	C	TCGA-09-1666-01A-01W-0615-10	34944206	49712671	148309759	5	2173											
ATG3	64422	hgsc.bcm.edu	37	3	112280341	112280341	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr3:112280341G>A	ENST00000283290.5	-	1	469	c.35C>T	c.(34-36)gCa>gTa	p.A12V	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.A12V|SLC35A5_ENST00000492406.1_5'Flank	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	12					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)	p.A12V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CACTTCCAGTGCCTTTCCCTT	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											83	72	76					3																	112280341		2203	4300	6503	113763031	SO:0001583	missense	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.35C>T	3.37:g.112280341G>A	ENSP00000283290:p.Ala12Val		113763031	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530372	0.96446	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	4.96	4.96	0.65561	Autophagy-related protein 3, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	L	0.54863	1.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65389	-0.6180	9	0.06757	T	0.87	-2.0396	17.1368	0.86742	0.0:0.0:1.0:0.0	.	12;12	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	V	12	.	ENSP00000283290:A12V	A	-	2	0	ATG3	113763031	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.897000	0.75671	2.567000	0.86603	0.563000	0.77884	GCA		0.627	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		A	112280341	G	A	112280341	3	1	45	1	0	0	0	0	1	0	0	0	1095	1319	46	2	957	2	ATG3	3	112280341	Missense_Mutation	SNP	G	TCGA-09-1666-01A-01W-0615-10	62567670	112280341	85742089	6	2174											
UQCRB	7381	hgsc.bcm.edu	37	8	97247742	97247742	+	Missense_Mutation	SNP	G	G	C	rs200758329		TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr8:97247742G>C	ENST00000287022.5	-	1	120	c.17C>G	c.(16-18)gCc>gGc	p.A6G	UQCRB_ENST00000517523.1_5'Flank|UQCRB_ENST00000518406.1_Missense_Mutation_p.A6G|UQCRB_ENST00000523920.1_Missense_Mutation_p.A6G|KB-1043D8.6_ENST00000520575.1_RNA	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	6				A -> G (in Ref. 2; AAA60236). {ECO:0000305}.	aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)		p.A6G(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TTACTTACCGGCCTGCTTACC	0.532																																																1	Substitution - Missense(1)	ovary(1)	8											118	109	112					8																	97247742		2203	4300	6503	97316918	SO:0001583	missense	7381			X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"Mitochondrial respiratory chain complex / Complex III"	12582	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VI", "cytochrome b-c1 complex subunit 7"	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.17C>G	8.37:g.97247742G>C	ENSP00000287022:p.Ala6Gly		97316918	E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	CCDS6269.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774663	0.70107	.	.	ENSG00000156467	ENST00000287022;ENST00000518406;ENST00000523920	T;T;T	0.44482	0.92;0.92;0.92	4.2	4.2	0.49525	.	0.544734	0.19684	N	0.108435	T	0.41511	0.1162	M	0.62723	1.935	0.09310	N	1	B	0.24823	0.112	B	0.24701	0.055	T	0.41215	-0.9521	10	0.59425	D	0.04	-11.7994	12.2323	0.54495	0.0:0.0:1.0:0.0	.	6	P14927	QCR7_HUMAN	G	6	ENSP00000287022:A6G;ENSP00000430494:A6G;ENSP00000430560:A6G	ENSP00000287022:A6G	A	-	2	0	UQCRB	97316918	0.018000	0.18449	0.005000	0.12908	0.023000	0.10783	2.217000	0.42880	2.323000	0.78572	0.655000	0.94253	GCC		0.532	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294		C	97247742	G	C	97247742	3	2	45	1	0	0	0	0	1	0	0	0	17018	1203	42	3	334	3	UQCRB	8	97247742	Missense_Mutation	SNP	G	TCGA-09-1666-01A-01W-0615-10		97247742	49116280	7	2175											
OLFM1	10439	hgsc.bcm.edu	37	9	138011971	138011971	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr9:138011971C>A	ENST00000371793.3	+	6	1656	c.1405C>A	c.(1405-1407)Cag>Aag	p.Q469K	OLFM1_ENST00000252854.4_Missense_Mutation_p.Q451K|OLFM1_ENST00000371796.3_Missense_Mutation_p.Q442K	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	469	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.Q451K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAACGGCCACCAGATCCTCTA	0.562																																																1	Substitution - Missense(1)	ovary(1)	9											119	104	109					9																	138011971		2203	4300	6503	137151792	SO:0001583	missense	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1405C>A	9.37:g.138011971C>A	ENSP00000360858:p.Gln469Lys		137151792	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	C	24.0	4.486040	0.84854	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.89617	-2.54;-2.54;-2.54	4.94	4.94	0.65067	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	M	0.91406	3.205	0.80722	D	1	P;D	0.65815	0.826;0.995	P;D	0.70487	0.551;0.969	D	0.96283	0.9208	10	0.59425	D	0.04	.	18.1661	0.89727	0.0:1.0:0.0:0.0	.	469;451	Q99784;Q6IMJ8	NOE1_HUMAN;.	K	451;442;469	ENSP00000252854:Q451K;ENSP00000360861:Q442K;ENSP00000360858:Q469K	ENSP00000252854:Q451K	Q	+	1	0	OLFM1	137151792	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.563000	0.82314	2.296000	0.77279	0.561000	0.74099	CAG		0.562	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		A	138011971	C	A	138011971	3	1	45	1	0	0	0	0	1	0	0	0	10852	595	21	3	1383	3	OLFM1	9	138011971	Missense_Mutation	SNP	C	TCGA-09-1666-01A-01W-0615-10		138011971	3201460	8	2176											
OR2D2	120776	hgsc.bcm.edu	37	11	6913264	6913264	+	Silent	SNP	A	A	C			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr11:6913264A>C	ENST00000299459.2	-	1	566	c.468T>G	c.(466-468)tcT>tcG	p.S156S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	156					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S156S(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTCTACCACAGACACCAGAA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	11											125	94	105					11																	6913264		2201	4296	6497	6869840	SO:0001819	synonymous_variant	120776			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.468T>G	11.37:g.6913264A>C			6869840	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	CCDS31416.1																																																																																				0.493	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		C	6913264	A	C	6913264	2	2	45	1	0	0	0	0	0	0	0	1	10994	175	7	5		5	OR2D2	11	6913264	Silent	SNP	A	TCGA-09-1666-01A-01W-0615-10		6913264	128093252	9	2177											
CD3E	916	hgsc.bcm.edu	37	11	118186243	118186243	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr11:118186243C>G	ENST00000361763.4	+	9	901	c.610C>G	c.(610-612)Cag>Gag	p.Q204E	CD3E_ENST00000528600.1_Missense_Mutation_p.Q198E	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	204	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)	p.Q204E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TGGCCTGAATCAGAGACGCAT	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											59	53	55					11																	118186243		2200	4296	6496	117691453	SO:0001583	missense	916			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.610C>G	11.37:g.118186243C>G	ENSP00000354566:p.Gln204Glu		117691453	A8K997	Missense_Mutation	SNP	ENST00000361763.4	37	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972495	0.74246	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T;T	0.44482	0.92;0.92	4.96	4.96	0.65561	.	0.287009	0.28482	N	0.015184	T	0.58991	0.2161	L	0.57536	1.79	0.34604	D	0.716854	D	0.76494	0.999	D	0.87578	0.998	T	0.66468	-0.5916	10	0.39692	T	0.17	-1.7631	13.5817	0.61907	0.0:1.0:0.0:0.0	.	204	P07766	CD3E_HUMAN	E	204;198	ENSP00000354566:Q204E;ENSP00000433975:Q198E	ENSP00000354566:Q204E	Q	+	1	0	CD3E	117691453	0.998000	0.40836	1.000000	0.80357	0.841000	0.47740	1.662000	0.37418	2.556000	0.86216	0.655000	0.94253	CAG		0.612	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		G	118186243	C	G	118186243	3	3	45	1	0	0	0	0	1	0	0	0	3011	827	29	3	640	3	CD3E	11	118186243	Missense_Mutation	SNP	C	TCGA-09-1666-01A-01W-0615-10	111272979	118186243	16820273	10	2178											
SILV	6490	hgsc.bcm.edu	37	12	56355196	56355196	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr12:56355196G>C	ENST00000548747.1	-	3	901	c.239C>G	c.(238-240)gCa>gGa	p.A80G	PMEL_ENST00000550464.1_Intron|PMEL_ENST00000360714.4_Missense_Mutation_p.A80G|PMEL_ENST00000449260.2_Missense_Mutation_p.A80G|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000548493.1_Missense_Mutation_p.A80G|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000536427.1_Missense_Mutation_p.A80G|PMEL_ENST00000552882.1_Missense_Mutation_p.A80G|PMEL_ENST00000550447.1_Missense_Mutation_p.A43G			P40967	PMEL_HUMAN	premelanosome protein	80					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.A80G(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAGGCATTTGCACCAATCAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											174	153	160					12																	56355196		2203	4300	6503	54641463	SO:0001583	missense	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.239C>G	12.37:g.56355196G>C	ENSP00000448828:p.Ala80Gly		54641463	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.165315	0.78339	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000549418;ENST00000549233	T;T;T;T;T;T;T;T	0.37411	2.65;2.69;2.69;2.69;2.65;2.4;1.2;2.17	5.15	5.15	0.70609	.	0.000000	0.50627	D	0.000105	T	0.61135	0.2323	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.64305	-0.6439	10	0.72032	D	0.01	-7.7768	17.783	0.88529	0.0:0.0:1.0:0.0	.	80;80	P40967-2;P40967	.;PMEL_HUMAN	G	80;80;80;80;80;80;43;80;80;80;83	ENSP00000402758:A80G;ENSP00000449690:A80G;ENSP00000448828:A80G;ENSP00000447374:A80G;ENSP00000353940:A80G;ENSP00000438695:A80G;ENSP00000447732:A80G;ENSP00000448849:A80G	ENSP00000353940:A80G	A	-	2	0	PMEL	54641463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.315000	0.89983	2.560000	0.86352	0.643000	0.83706	GCA		0.507	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		C	56355196	G	C	56355196	3	2	45	1	0	0	0	0	1	0	0	0	14325	1319	46	3	1782	3	SILV	12	56355196	Missense_Mutation	SNP	G	TCGA-09-1666-01A-01W-0615-10		56355196	77496699	11	2179											
C14orf118	55668	hgsc.bcm.edu	37	14	76638272	76638272	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr14:76638272G>C	ENST00000261530.7	+	4	880	c.814G>C	c.(814-816)Gat>Cat	p.D272H	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.D272H|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.D272H|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.D272H	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	272								p.D272H(1)									GTGGGCTCCTGATCATTGTTC	0.428																																																1	Substitution - Missense(1)	ovary(1)	14											157	150	153					14																	76638272		2203	4300	6503	75708025	SO:0001583	missense	55668			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.814G>C	14.37:g.76638272G>C	ENSP00000261530:p.Asp272His		75708025	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272337	0.80580	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.54479	0.57;0.57;0.58;0.57	5.43	5.43	0.79202	.	0.059640	0.64402	D	0.000005	T	0.70211	0.3198	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.71570	-0.4553	10	0.87932	D	0	-18.0466	17.5969	0.88014	0.0:0.0:1.0:0.0	.	272;272;272	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	H	272	ENSP00000451587:D272H;ENSP00000323775:D272H;ENSP00000261530:D272H;ENSP00000450657:D272H	ENSP00000261530:D272H	D	+	1	0	C14orf118	75708025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.745000	0.74860	2.824000	0.97209	0.655000	0.94253	GAT		0.428	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		C	76638272	G	C	76638272	3	2	45	1	0	0	0	0	1	0	0	0	1741	1290	45	3	824	3	C14orf118	14	76638272	Missense_Mutation	SNP	G	TCGA-09-1666-01A-01W-0615-10		76638272	30711268	12	2180											
OCA2	4948	hgsc.bcm.edu	37	15	28196959	28196959	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr15:28196959G>C	ENST00000354638.3	-	18	2077	c.1922C>G	c.(1921-1923)tCg>tGg	p.S641W	OCA2_ENST00000353809.5_Missense_Mutation_p.S617W|OCA2_ENST00000382996.2_Missense_Mutation_p.S641W	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	641					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.S641W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGGACAAACGAATTGAGGAA	0.443									Oculocutaneous Albinism																																							1	Substitution - Missense(1)	ovary(1)	15											177	137	151					15																	28196959		2203	4300	6503	25870554	SO:0001583	missense	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1922C>G	15.37:g.28196959G>C	ENSP00000346659:p.Ser641Trp		25870554	Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125294	0.77436	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91843	-1.5;-1.5;-2.92	5.37	5.37	0.77165	Divalent ion symporter (1);	0.066681	0.64402	D	0.000006	D	0.96993	0.9018	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97835	1.0265	10	0.87932	D	0	-13.1334	16.6066	0.84831	0.0:0.0:1.0:0.0	.	617;641	Q04671-2;Q04671	.;P_HUMAN	W	641;617;641	ENSP00000346659:S641W;ENSP00000261276:S617W;ENSP00000372457:S641W	ENSP00000261276:S617W	S	-	2	0	OCA2	25870554	1.000000	0.71417	0.850000	0.33497	0.831000	0.47069	8.681000	0.91228	2.516000	0.84829	0.655000	0.94253	TCG		0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		C	28196959	G	C	28196959	3	2	45	1	0	0	0	0	1	0	0	0	10815	1059	37	3	622	3	OCA2	15	28196959	Missense_Mutation	SNP	G	TCGA-09-1666-01A-01W-0615-10		28196959	74334433	13	2181											
TP53	7157	hgsc.bcm.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	A			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr17:7578555C>A	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	CAGGGGAGTACTGTAGGAAGA	0.552		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"	51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	17											42	42	42					17																	7578555		2203	4300	6503	7519280	SO:0001630	splice_region_variant	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.376-1G>T	17.37:g.7578555C>A			7519280	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370877	0.61624	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578555	C	A	7578555	5	1	45	1	0	0	0	0	0	0	1	0	16381	579	20	3	923	3	TP53	17	7578555	Splice_Site	SNP	C	TCGA-09-1666-01A-01W-0615-10		7578555	73616655	14	2182											
DNMT1	1786	hgsc.bcm.edu	37	19	10248608	10248608	+	Missense_Mutation	SNP	G	G	A	rs375225009		TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr19:10248608G>A	ENST00000340748.4	-	35	4380	c.4145C>T	c.(4144-4146)tCg>tTg	p.S1382L	DNMT1_ENST00000540357.1_Missense_Mutation_p.S1382L|DNMT1_ENST00000359526.4_Missense_Mutation_p.S1398L|DNMT1_ENST00000589538.1_5'Flank			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1382	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1382L(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTCCAGTGCCGAGGCTCCATT	0.622																																																1	Substitution - Missense(1)	ovary(1)	19						G	LEU/SER,LEU/SER	0,4406		0,0,2203	65	49	54		4193,4145	4.3	0	19		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DNMT1	NM_001130823.1,NM_001379.2	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1398/1633,1382/1617	10248608	1,13005	2203	4300	6503	10109608	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4145C>T	19.37:g.10248608G>A	ENSP00000345739:p.Ser1382Leu		10109608	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405251	0.62288	0.0	1.16E-4	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.84223	-1.82;-1.82;-1.82	5.38	4.34	0.51931	.	0.121936	0.56097	D	0.000027	D	0.86703	0.5996	M	0.64630	1.985	0.48185	D	0.999608	P;P;D	0.53619	0.952;0.952;0.961	P;P;P	0.50537	0.51;0.51;0.643	D	0.87259	0.2278	10	0.59425	D	0.04	.	13.1521	0.59494	0.0795:0.0:0.9205:0.0	.	1382;1398;1382	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	L	1398;1382;1382;1250	ENSP00000352516:S1398L;ENSP00000440457:S1382L;ENSP00000345739:S1382L	ENSP00000345739:S1382L	S	-	2	0	DNMT1	10109608	1.000000	0.71417	0.015000	0.15790	0.008000	0.06430	9.416000	0.97383	1.255000	0.44051	0.655000	0.94253	TCG		0.622	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		A	10248608	G	A	10248608	3	1	45	1	0	0	0	0	1	0	0	0	4675	1059	37	1	729	1	DNMT1	19	10248608	Missense_Mutation	SNP	G	TCGA-09-1666-01A-01W-0615-10		10248608	48880375	15	2183											
RYR1	6261	hgsc.bcm.edu	37	19	38980821	38980821	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chr19:38980821C>T	ENST00000359596.3	+	36	5920	c.5920C>T	c.(5920-5922)Cgg>Tgg	p.R1974W	RYR1_ENST00000355481.4_Missense_Mutation_p.R1974W|RYR1_ENST00000360985.3_Missense_Mutation_p.R1974W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1974	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R1974W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCCAACCAGCGGAGCCGCTA	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											60	53	55					19																	38980821		2203	4300	6503	43672661	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5920C>T	19.37:g.38980821C>T	ENSP00000352608:p.Arg1974Trp		43672661	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859942	0.32884	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73897	-0.79;-0.79;-0.79	4.61	-0.288	0.12855	.	0.000000	0.64402	U	0.000014	D	0.84620	0.5512	M	0.83483	2.645	0.30899	N	0.729433	D;D	0.89917	1.0;1.0	D;P	0.66084	0.941;0.874	D	0.85554	0.1223	10	0.66056	D	0.02	.	15.5957	0.76578	0.7178:0.2821:0.0:0.0	.	1974;1974	P21817-2;P21817	.;RYR1_HUMAN	W	1974	ENSP00000352608:R1974W;ENSP00000347667:R1974W;ENSP00000354254:R1974W	ENSP00000347667:R1974W	R	+	1	2	RYR1	43672661	0.978000	0.34361	0.953000	0.39169	0.498000	0.33706	0.101000	0.15251	-0.104000	0.12154	-0.270000	0.10280	CGG		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38980821	C	T	38980821	3	4	45	1	0	0	0	0	1	0	0	0	13771	759	27	1	6062	1	RYR1	19	38980821	Missense_Mutation	SNP	C	TCGA-09-1666-01A-01W-0615-10	28732213	38980821	20148162	16	2184											
BRWD3	254065	hgsc.bcm.edu	37	X	79988966	79988966	+	Silent	SNP	G	G	A			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chrX:79988966G>A	ENST00000373275.4	-	12	1332	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	372					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.N372N(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGTCTCCATTGTTACAGAACT	0.308																																																1	Substitution - coding silent(1)	ovary(1)	X											99	89	92					X																	79988966		2203	4296	6499	79875622	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1116C>T	X.37:g.79988966G>A			79875622	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	CCDS14447.1																																																																																				0.308	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		A	79988966	G	A	79988966	2	1	45	1	0	0	0	0	0	0	0	1	1526	1368	48	2		2	BRWD3	23	79988966	Silent	SNP	G	TCGA-09-1666-01A-01W-0615-10		79988966	75281594	17	2185											
GABRE	2564	hgsc.bcm.edu	37	X	151129761	151129761	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1666-01A-01W-0615-10	TCGA-09-1666-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	89624b91-5fc5-4a15-9793-588d7b033703	6a789747-4a8c-4678-ae32-37789b17855d	g.chrX:151129761A>G	ENST00000370328.3	-	5	693	c.640T>C	c.(640-642)Tct>Cct	p.S214P	MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370325.1_Missense_Mutation_p.S214P|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	214					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S101P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCACAGCTAGAGAAAGATAGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	X											119	110	113					X																	151129761		2203	4300	6503	150880417	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.640T>C	X.37:g.151129761A>G	ENSP00000359353:p.Ser214Pro		150880417	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620304	0.87460	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79940	-1.32;-1.32	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.252575	0.28219	N	0.016154	D	0.86657	0.5985	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85075	0.0942	10	0.31617	T	0.26	.	12.79	0.57528	1.0:0.0:0.0:0.0	.	214	P78334	GBRE_HUMAN	P	214	ENSP00000359353:S214P;ENSP00000359350:S214P	ENSP00000359350:S214P	S	-	1	0	GABRE	150880417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.379000	0.66196	1.928000	0.55862	0.486000	0.48141	TCT		0.468	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		G	151129761	A	G	151129761	3	3	45	1	0	0	0	0	1	0	0	0	6170	304	11	4	900	4	GABRE	23	151129761	Missense_Mutation	SNP	A	TCGA-09-1666-01A-01W-0615-10	71140795	151129761	4140799	18	2186											
PARS2	25973	hgsc.bcm.edu	37	1	55223917	55223917	+	Silent	SNP	C	C	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr1:55223917C>T	ENST00000371279.3	-	2	1000	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	306					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.E306E(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGTGCCCCACCTCAATGCCTT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	1											128	121	123					1																	55223917		2203	4300	6503	54996505	SO:0001819	synonymous_variant	25973			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.918G>A	1.37:g.55223917C>T			54996505	A8K0W4|Q9H6S5|Q9UFT1	Silent	SNP	ENST00000371279.3	37	CCDS597.1																																																																																				0.507	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		T	55223917	C	T	55223917	2	4	46	1	0	0	0	0	0	0	0	1	11467	680	24	2		2	PARS2	1	55223917	Silent	SNP	C	TCGA-09-1669-01A-01W-0615-10		55223917	194026704	1	2187											
FAM163A	148753	hgsc.bcm.edu	37	1	179783001	179783001	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr1:179783001A>T	ENST00000341785.4	+	5	577	c.181A>T	c.(181-183)Acc>Tcc	p.T61S	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	61						integral component of membrane (GO:0016021)		p.T61S(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CAGAGGCCCCACCTGCAATGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	1											52	46	48					1																	179783001		2203	4299	6502	178049624	SO:0001583	missense	148753			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.181A>T	1.37:g.179783001A>T	ENSP00000354891:p.Thr61Ser		178049624	A8K8R7	Missense_Mutation	SNP	ENST00000341785.4	37	CCDS1333.1	.	.	.	.	.	.	.	.	.	.	A	7.141	0.581894	0.13749	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.63	-1.03	0.10102	.	0.559453	0.19372	N	0.115885	T	0.25121	0.0610	L	0.44542	1.39	0.19575	N	0.999965	B	0.02656	0.0	B	0.04013	0.001	T	0.28170	-1.0052	9	0.10111	T	0.7	-0.4107	5.3848	0.16213	0.4943:0.2811:0.2247:0.0	.	61	Q96GL9	F163A_HUMAN	S	61	.	ENSP00000354891:T61S	T	+	1	0	FAM163A	178049624	0.373000	0.25073	0.980000	0.43619	0.565000	0.35776	0.751000	0.26348	-0.395000	0.07715	0.379000	0.24179	ACC		0.672	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		T	179783001	A	T	179783001	3	4	46	1	0	0	0	0	1	0	0	0	5476	159	6	5	187	5	FAM163A	1	179783001	Missense_Mutation	SNP	A	TCGA-09-1669-01A-01W-0615-10	124559084	179783001	69467620	2	2188											
GLT25D2	23127	hgsc.bcm.edu	37	1	183944320	183944320	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr1:183944320G>T	ENST00000361927.4	-	3	774	c.403C>A	c.(403-405)Cac>Aac	p.H135N	COLGALT2_ENST00000546159.1_Missense_Mutation_p.H135N	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	135					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.H135N(1)									GTTGGCCAGTGCTTTGGTCCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											80	76	77					1																	183944320		2203	4300	6503	182210943	SO:0001583	missense	23127			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.403C>A	1.37:g.183944320G>T	ENSP00000354960:p.His135Asn		182210943	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172796	0.94807	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.21191	2.02;2.02	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.58925	1.835	0.80722	D	1	P;P	0.51653	0.921;0.947	B;P	0.48425	0.359;0.577	T	0.02450	-1.1157	10	0.41790	T	0.15	-11.8449	19.1269	0.93388	0.0:0.0:1.0:0.0	.	135;135	F5H3T5;Q8IYK4	.;GT252_HUMAN	N	135	ENSP00000439112:H135N;ENSP00000354960:H135N	ENSP00000354960:H135N	H	-	1	0	GLT25D2	182210943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.497000	0.97970	2.583000	0.87209	0.650000	0.86243	CAC		0.428	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		T	183944320	G	T	183944320	3	4	46	1	0	0	0	0	1	0	0	0	6467	1319	46	3	1517	3	GLT25D2	1	183944320	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	4161319	183944320	65306301	3	2189											
HMCN1	83872	hgsc.bcm.edu	37	1	186039781	186039781	+	Silent	SNP	A	A	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr1:186039781A>G	ENST00000271588.4	+	52	8260	c.8031A>G	c.(8029-8031)ccA>ccG	p.P2677P	HMCN1_ENST00000367492.2_Silent_p.P2677P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2677	Ig-like C2-type 25.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.P2677P(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTGGGGGCCAGGTCTTTCCC	0.408																																																1	Substitution - coding silent(1)	ovary(1)	1											102	106	105					1																	186039781		2203	4300	6503	184306404	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8031A>G	1.37:g.186039781A>G			184306404	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186039781	A	G	186039781	2	3	46	1	0	0	0	0	0	0	0	1	7220	175	7	4		4	HMCN1	1	186039781	Silent	SNP	A	TCGA-09-1669-01A-01W-0615-10	2095461	186039781	63210840	4	2190											
EFEMP1	2202	hgsc.bcm.edu	37	2	56104917	56104917	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr2:56104917C>G	ENST00000394555.2	-	6	1159	c.724G>C	c.(724-726)Ggg>Cgg	p.G242R	EFEMP1_ENST00000394554.1_Missense_Mutation_p.G242R|EFEMP1_ENST00000355426.3_Missense_Mutation_p.G242R|EFEMP1_ENST00000424836.2_Intron	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	242	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.G242R(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATTGAAACCCAGGACTGCAC	0.448																																					GBM(92;934 1319 7714 28760 40110)											1	Substitution - Missense(1)	ovary(1)	2											176	161	166					2																	56104917		2203	4300	6503	55958421	SO:0001583	missense	2202			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.724G>C	2.37:g.56104917C>G	ENSP00000378058:p.Gly242Arg		55958421	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259590	0.80246	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000355426	D;D;D	0.92752	-3.1;-3.1;-3.1	5.65	5.65	0.86999	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.98429	0.9477	H	0.99884	4.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99501	1.0953	10	0.87932	D	0	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	242	Q12805	FBLN3_HUMAN	R	242;242;98;242	ENSP00000378058:G242R;ENSP00000378057:G242R;ENSP00000347596:G242R	ENSP00000347596:G242R	G	-	1	0	EFEMP1	55958421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.659000	0.83766	2.672000	0.90937	0.655000	0.94253	GGG		0.448	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			G	56104917	C	G	56104917	3	3	46	1	0	0	0	0	1	0	0	0	4941	594	21	3	781	3	EFEMP1	2	56104917	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10		56104917	187094456	5	2191											
SLC4A5	57835	hgsc.bcm.edu	37	2	74458386	74458386	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr2:74458386C>G	ENST00000377634.4	-	25	3223	c.2824G>C	c.(2824-2826)Gtc>Ctc	p.V942L	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V840L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V942L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V942L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V942L|SLC4A5_ENST00000394019.2_Missense_Mutation_p.V942L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V840L|SLC4A5_ENST00000423644.1_Missense_Mutation_p.C882S					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.V942L(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCCAGGAAGACAGAGATTCCC	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											182	149	160					2																	74458386		2203	4300	6503	74311894	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2824G>C	2.37:g.74458386C>G	ENSP00000366861:p.Val942Leu		74311894		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.79|19.79	3.892501|3.892501	0.72524|0.72524	.|.	.|.	ENSG00000188687|ENSG00000188687	ENST00000423644;ENST00000425249|ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634	T;T|D;D;T;T;D;D;D	0.70164|0.82344	-0.46;-0.14|-1.6;-1.6;-1.14;-1.14;-1.6;-1.6;-1.6	4.47|4.47	4.47|4.47	0.54385|0.54385	.|Bicarbonate transporter, C-terminal (1);	.|0.243433	.|0.41001	.|D	.|0.000964	D|D	0.87410|0.87410	0.6170|0.6170	L|L	0.52905|0.52905	1.665|1.665	0.26197|0.26197	N|N	0.979505|0.979505	B|P;P;P;D	0.02656|0.54772	0.0|0.832;0.659;0.603;0.968	B|P;P;P;P	0.04013|0.61328	0.001|0.495;0.477;0.513;0.887	T|T	0.81362|0.81362	-0.0967|-0.0967	9|10	0.21540|0.72032	T|D	0.41|0.01	.|.	14.6661|14.6661	0.68910|0.68910	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	844|942;840;942;942	E7EQT3|Q9BY07-4;Q9BY07-7;Q9BY07;Q9BY07-3	.|.;.;S4A5_HUMAN;.	S|L	882;844|942;942;942;840;840;942;942;942	ENSP00000395804:C882S;ENSP00000405678:C844S|ENSP00000377587:V942L;ENSP00000251768:V942L;ENSP00000352461:V840L;ENSP00000351513:V840L;ENSP00000350475:V942L;ENSP00000366859:V942L;ENSP00000366861:V942L	ENSP00000395804:C882S|ENSP00000251768:V942L	C|V	-|-	2|1	0|0	SLC4A5|SLC4A5	74311894|74311894	0.975000|0.975000	0.34042|0.34042	0.973000|0.973000	0.42090|0.42090	0.987000|0.987000	0.75469|0.75469	2.335000|2.335000	0.43929|0.43929	2.309000|2.309000	0.77851|0.77851	0.561000|0.561000	0.74099|0.74099	TGT|GTC		0.567	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			G	74458386	C	G	74458386	3	3	46	1	0	0	0	0	1	0	0	0	14660	478	17	3	617	3	SLC4A5	2	74458386	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10	18353469	74458386	168740987	6	2192											
CHRNA1	1134	hgsc.bcm.edu	37	2	175618346	175618346	+	Silent	SNP	G	G	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr2:175618346G>A	ENST00000261007.5	-	7	804	c.738C>T	c.(736-738)atC>atT	p.I246I	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Silent_p.I221I|CHRNA1_ENST00000409542.1_Silent_p.I139I|CHRNA1_ENST00000348749.5_Silent_p.I221I|CHRNA1_ENST00000409219.1_Silent_p.I221I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	246					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.I246I(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	AGTGGTAGGTGATGTCCAGGT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	2											176	163	167					2																	175618346		2203	4300	6503	175326592	SO:0001819	synonymous_variant	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.738C>T	2.37:g.175618346G>A			175326592	B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	CCDS33331.1																																																																																				0.582	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			A	175618346	G	A	175618346	2	1	46	1	0	0	0	0	0	0	0	1	3381	1280	45	2		2	CHRNA1	2	175618346	Silent	SNP	G	TCGA-09-1669-01A-01W-0615-10	101159960	175618346	67581027	7	2193											
SLC16A14	151473	hgsc.bcm.edu	37	2	230911026	230911026	+	Silent	SNP	C	C	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr2:230911026C>T	ENST00000295190.4	-	4	1274	c.816G>A	c.(814-816)ggG>ggA	p.G272G		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.G272G(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCTTCCTGTGCCCGGCCTGAT	0.587																																																1	Substitution - coding silent(1)	ovary(1)	2											89	90	90					2																	230911026		2203	4300	6503	230619270	SO:0001819	synonymous_variant	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.816G>A	2.37:g.230911026C>T			230619270	A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	CCDS2473.1																																																																																				0.587	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		T	230911026	C	T	230911026	2	4	46	1	0	0	0	0	0	0	0	1	14410	726	26	2		2	SLC16A14	2	230911026	Silent	SNP	C	TCGA-09-1669-01A-01W-0615-10	55292680	230911026	12288347	8	2194											
PRICKLE2	166336	hgsc.bcm.edu	37	3	64084736	64084736	+	Silent	SNP	G	G	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr3:64084736G>A	ENST00000295902.6	-	8	3111	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.I898I|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	842					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I842I(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATTAAGAAATGATACAGTTTT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	3											99	101	101					3																	64084736		2203	4300	6503	64059776	SO:0001819	synonymous_variant	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2526C>T	3.37:g.64084736G>A			64059776	Q0VF44	Silent	SNP	ENST00000295902.6	37	CCDS2902.1																																																																																				0.433	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		A	64084736	G	A	64084736	2	1	46	1	0	0	0	0	0	0	0	1	12490	1280	45	2		2	PRICKLE2	3	64084736	Silent	SNP	G	TCGA-09-1669-01A-01W-0615-10		64084736	133937694	9	2195											
BOC	91653	hgsc.bcm.edu	37	3	113002346	113002346	+	Silent	SNP	G	G	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr3:113002346G>A	ENST00000495514.1	+	16	3224	c.2520G>A	c.(2518-2520)ccG>ccA	p.P840P	BOC_ENST00000273395.4_Silent_p.P841P|BOC_ENST00000355385.3_Silent_p.P840P			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	840					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P840P(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TAGAGCGGCCGGTGGGCACTG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	3											82	91	88					3																	113002346		2203	4300	6503	114485036	SO:0001819	synonymous_variant	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2520G>A	3.37:g.113002346G>A			114485036	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	CCDS2971.1																																																																																				0.627	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		A	113002346	G	A	113002346	2	1	46	1	0	0	0	0	0	0	0	1	1481	1103	39	1		1	BOC	3	113002346	Silent	SNP	G	TCGA-09-1669-01A-01W-0615-10	48917610	113002346	85020084	10	2196											
IGSF10	285313	hgsc.bcm.edu	37	3	151163375	151163375	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr3:151163375A>T	ENST00000282466.3	-	4	4393	c.4394T>A	c.(4393-4395)tTc>tAc	p.F1465Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1465					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.F1465Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGCTCAAGAATGGTGGTAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	3											149	124	132					3																	151163375		2203	4300	6503	152646065	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4394T>A	3.37:g.151163375A>T	ENSP00000282466:p.Phe1465Tyr		152646065	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413440	0.42817	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68181	-0.31	5.72	3.36	0.38483	.	1.444780	0.04643	N	0.405713	T	0.42314	0.1197	N	0.08118	0	0.09310	N	1	P	0.49961	0.93	B	0.34722	0.188	T	0.34700	-0.9818	10	0.27082	T	0.32	.	7.0725	0.25187	0.6972:0.0:0.3028:0.0	.	1465	Q6WRI0	IGS10_HUMAN	Y	1465;92	ENSP00000282466:F1465Y	ENSP00000282466:F1465Y	F	-	2	0	IGSF10	152646065	0.000000	0.05858	0.101000	0.21167	0.140000	0.21249	-0.094000	0.11094	0.460000	0.27045	0.454000	0.30748	TTC		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151163375	A	T	151163375	3	4	46	1	0	0	0	0	1	0	0	0	7597	246	9	5	3537	5	IGSF10	3	151163375	Missense_Mutation	SNP	A	TCGA-09-1669-01A-01W-0615-10	38161029	151163375	46859055	11	2197											
SLC4A4	8671	hgsc.bcm.edu	37	4	72420864	72420864	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr4:72420864C>A	ENST00000264485.5	+	21	2819	c.2702C>A	c.(2701-2703)cCc>cAc	p.P901H	SLC4A4_ENST00000351898.6_Missense_Mutation_p.P817H|SLC4A4_ENST00000340595.3_Missense_Mutation_p.P857H|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P901H	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	901					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.P857H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TAGTTTATACCCATGCCTGTA	0.328																																																1	Substitution - Missense(1)	ovary(1)	4											257	257	257					4																	72420864		2203	4300	6503	72639728	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2702C>A	4.37:g.72420864C>A	ENSP00000264485:p.Pro901His		72639728	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871250	0.91587	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;T;D	0.89123	-2.47;-2.47;-1.49;-2.47	5.75	5.75	0.90469	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.998	D	0.97178	0.9849	10	0.87932	D	0	.	20.3046	0.98621	0.0:1.0:0.0:0.0	.	901;817;857;901	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	H	901;901;817;857	ENSP00000264485:P901H;ENSP00000393557:P901H;ENSP00000307349:P817H;ENSP00000344272:P857H	ENSP00000264485:P901H	P	+	2	0	SLC4A4	72639728	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.016000	0.70798	2.878000	0.98634	0.650000	0.86243	CCC		0.328	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		A	72420864	C	A	72420864	3	1	46	1	0	0	0	0	1	0	0	0	14659	623	22	3	2901	3	SLC4A4	4	72420864	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10		72420864	118733412	12	2198											
DNAH5	1767	hgsc.bcm.edu	37	5	13754367	13754367	+	Silent	SNP	T	T	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr5:13754367T>C	ENST00000265104.4	-	62	10604	c.10500A>G	c.(10498-10500)aaA>aaG	p.K3500K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3500					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K3500K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCATCTTTCTTTTTCACCTG	0.413									Kartagener syndrome																																							1	Substitution - coding silent(1)	ovary(1)	5											119	116	117					5																	13754367		2203	4300	6503	13807367	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10500A>G	5.37:g.13754367T>C			13807367	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13754367	T	C	13754367	2	2	46	1	0	0	0	0	0	0	0	1	4604	1606	56	4		4	DNAH5	5	13754367	Silent	SNP	T	TCGA-09-1669-01A-01W-0615-10		13754367	167160893	13	2199											
NRG2	9542	hgsc.bcm.edu	37	5	139245143	139245143	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr5:139245143G>T	ENST00000361474.1	-	5	1404	c.1180C>A	c.(1180-1182)Cct>Act	p.P394T	NRG2_ENST00000289422.7_Missense_Mutation_p.P394T|NRG2_ENST00000545385.1_Intron|NRG2_ENST00000358522.3_Intron|NRG2_ENST00000289409.4_Intron|NRG2_ENST00000340391.3_Missense_Mutation_p.P191T|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000394770.1_Missense_Mutation_p.P394T	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	394					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.P394T(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGCTTAGGATCTGGCATG	0.468																																																1	Substitution - Missense(1)	ovary(1)	5											106	102	103					5																	139245143		2203	4300	6503	139225327	SO:0001583	missense	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1180C>A	5.37:g.139245143G>T	ENSP00000354910:p.Pro394Thr		139225327		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570947	0.45798	.	.	ENSG00000158458	ENST00000289422;ENST00000361474;ENST00000446269;ENST00000394770;ENST00000340391;ENST00000544729;ENST00000378238	T;T;T;T;T	0.73363	-0.73;-0.56;-0.74;-0.4;-0.74	5.92	5.92	0.95590	.	0.422970	0.23108	N	0.051837	T	0.81187	0.4770	L	0.42245	1.32	0.58432	D	0.999998	B;D	0.89917	0.062;1.0	B;D	0.87578	0.021;0.998	T	0.73613	-0.3927	10	0.12103	T	0.63	-8.6388	18.5018	0.90884	0.0:0.0:1.0:0.0	.	394;394	O14511;O14511-3	NRG2_HUMAN;.	T	394;394;394;394;191;302;394	ENSP00000289422:P394T;ENSP00000354910:P394T;ENSP00000378251:P394T;ENSP00000342660:P191T;ENSP00000367483:P394T	ENSP00000289422:P394T	P	-	1	0	NRG2	139225327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.430000	0.90283	2.810000	0.96702	0.650000	0.86243	CCT		0.468	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		T	139245143	G	T	139245143	3	4	46	1	0	0	0	0	1	0	0	0	10648	1174	41	3	1487	3	NRG2	5	139245143	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	125490776	139245143	41670117	14	2200											
ADAMTS2	9509	hgsc.bcm.edu	37	5	178541232	178541232	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr5:178541232T>C	ENST00000251582.7	-	22	3373	c.3272A>G	c.(3271-3273)aAg>aGg	p.K1091R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1091	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K1091R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTTACAGGACTTGCAGCACAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											118	91	100					5																	178541232		2203	4300	6503	178473838	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3272A>G	5.37:g.178541232T>C	ENSP00000251582:p.Lys1091Arg		178473838		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997007	0.74818	.	.	ENSG00000087116	ENST00000251582	T	0.60299	0.2	5.39	2.99	0.34606	PLAC (1);	0.098661	0.43919	D	0.000511	T	0.56992	0.2023	L	0.56769	1.78	0.80722	D	1	D	0.58268	0.982	P	0.48738	0.588	T	0.55023	-0.8205	10	0.48119	T	0.1	.	9.0249	0.36222	0.0:0.151:0.0:0.849	.	1091	O95450	ATS2_HUMAN	R	1091	ENSP00000251582:K1091R	ENSP00000251582:K1091R	K	-	2	0	ADAMTS2	178473838	1.000000	0.71417	0.920000	0.36463	0.972000	0.66771	4.155000	0.58131	0.445000	0.26639	0.459000	0.35465	AAG		0.532	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		C	178541232	T	C	178541232	3	2	46	1	0	0	0	0	1	0	0	0	265	1609	56	4	367	4	ADAMTS2	5	178541232	Missense_Mutation	SNP	T	TCGA-09-1669-01A-01W-0615-10	39296089	178541232	2374028	15	2201											
ERVFRDE1	405754	hgsc.bcm.edu	37	6	11105009	11105009	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr6:11105009T>G	ENST00000472091.1	-	2	910	c.535A>C	c.(535-537)Act>Cct	p.T179P	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.T179P	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	179					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.T179P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TGAGGAAAAGTAATATTTGGA	0.448																																																1	Substitution - Missense(1)	ovary(1)	6											140	154	149					6																	11105009		2202	4300	6502	11212995	SO:0001583	missense	405754			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.535A>C	6.37:g.11105009T>G	ENSP00000420174:p.Thr179Pro		11212995		Missense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157720	0.38119	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.15487	2.42;2.42	0.235	0.235	0.15431	.	.	.	.	.	T	0.06416	0.0165	N	0.24115	0.695	0.21256	N	0.999744	D	0.54964	0.969	P	0.50590	0.645	T	0.22382	-1.0218	8	0.52906	T	0.07	.	.	.	.	.	179	P60508	EFRD1_HUMAN	P	179	ENSP00000420174:T179P;ENSP00000444461:T179P	ENSP00000420174:T179P	T	-	1	0	ERVFRD-1	11212995	0.787000	0.28750	0.814000	0.32528	0.815000	0.46073	0.310000	0.19356	0.263000	0.21812	0.260000	0.18958	ACT		0.448	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		G	11105009	T	G	11105009	3	3	46	1	0	0	0	0	1	0	0	0	5246	1638	57	5	1085	5	ERVFRDE1	6	11105009	Missense_Mutation	SNP	T	TCGA-09-1669-01A-01W-0615-10		11105009	160010058	16	2202											
BAI3	577	hgsc.bcm.edu	37	6	69703742	69703742	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr6:69703742C>A	ENST00000370598.1	+	11	2638	c.1817C>A	c.(1816-1818)aCt>aAt	p.T606N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	606					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T606N(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGGATTTAACTCAGAGAAAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	6											172	181	178					6																	69703742		2203	4300	6503	69760463	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1817C>A	6.37:g.69703742C>A	ENSP00000359630:p.Thr606Asn		69760463	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004820	0.93287	.	.	ENSG00000135298	ENST00000370598	T	0.18338	2.22	6.05	6.05	0.98169	Domain of unknown function DUF3497 (1);	0.056343	0.64402	D	0.000001	T	0.26412	0.0645	L	0.50333	1.59	0.80722	D	1	D	0.60160	0.987	P	0.57204	0.815	T	0.00392	-1.1768	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	606	O60242	BAI3_HUMAN	N	606	ENSP00000359630:T606N	ENSP00000359630:T606N	T	+	2	0	BAI3	69760463	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.052000	0.71080	2.878000	0.98634	0.650000	0.86243	ACT		0.443	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	69703742	C	A	69703742	3	1	46	1	0	0	0	0	1	0	0	0	1300	565	20	3	1851	3	BAI3	6	69703742	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10	58598733	69703742	101411325	17	2203											
MCHR2	84539	hgsc.bcm.edu	37	6	100390994	100390994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr6:100390994G>A	ENST00000281806.2	-	4	732	c.418C>T	c.(418-420)Cga>Tga	p.R140*	MCHR2_ENST00000369212.2_Nonsense_Mutation_p.R140*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R140*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CGTGTCAGTCGAAATGGTTGG	0.478																																																1	Substitution - Nonsense(1)	ovary(1)	6											115	107	110					6																	100390994		2203	4300	6503	100497715	SO:0001587	stop_gained	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.418C>T	6.37:g.100390994G>A	ENSP00000281806:p.Arg140*		100497715	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Nonsense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363835	0.95877	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	.	.	.	4.95	1.81	0.25067	.	0.361362	0.19944	N	0.102600	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	5.2519	0.15527	0.1773:0.0:0.4882:0.3345	.	.	.	.	X	140	.	ENSP00000281806:R140X	R	-	1	2	MCHR2	100497715	0.989000	0.36119	0.922000	0.36590	0.983000	0.72400	1.684000	0.37649	0.505000	0.28104	0.655000	0.94253	CGA		0.478	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		A	100390994	G	A	100390994	4	1	46	1	0	0	0	0	0	1	0	0	9383	1066	37	1	616	1	MCHR2	6	100390994	Nonsense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	30687252	100390994	70724073	18	2204											
ENPP3	5169	hgsc.bcm.edu	37	6	132047342	132047342	+	Splice_Site	SNP	T	T	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr6:132047342T>C	ENST00000414305.1	+	21	2281		c.e21+2		ENPP3_ENST00000357639.3_Splice_Site|ENPP3_ENST00000358229.5_Splice_Site			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3						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.?(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)		CCCCAGTTGGTAAGTTCCTGA	0.423																																																1	Unknown(1)	ovary(1)	6											144	137	139					6																	132047342		2203	4300	6503	132089035	SO:0001630	splice_region_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.1953+2T>C	6.37:g.132047342T>C			132089035	Q5JTL3	Splice_Site	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	T	9.501	1.103168	0.20632	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6684	0.39998	0.0:0.0785:0.0:0.9215	.	.	.	.	.	-1	.	.	.	+	.	.	ENPP3	132089035	1.000000	0.71417	0.694000	0.30210	0.043000	0.13939	4.691000	0.61738	2.039000	0.60335	0.460000	0.39030	.		0.423	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2		Intron	C	132047342	T	C	132047342	5	2	46	1	0	0	0	0	0	0	1	0	5131	1652	57	4	2033	4	ENPP3	6	132047342	Splice_Site	SNP	T	TCGA-09-1669-01A-01W-0615-10	31656348	132047342	39067725	19	2205											
TNFAIP3	7128	hgsc.bcm.edu	37	6	138192422	138192422	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr6:138192422A>C	ENST00000237289.4	+	2	124	c.58A>C	c.(58-60)Aag>Cag	p.K20Q		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	20					apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.K20Q(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GAAAGCTGTGAAGATACGGGA	0.403			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"						OREG0031869	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	26	Whole gene deletion(25)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(25)|ovary(1)	6											102	106	105					6																	138192422		2203	4300	6503	138234115	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.58A>C	6.37:g.138192422A>C	ENSP00000237289:p.Lys20Gln	1639	138234115	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648589	0.67358	.	.	ENSG00000118503	ENST00000421450;ENST00000420009;ENST00000237289;ENST00000433680;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.36699	1.24;1.54	5.98	5.98	0.97165	.	0.096141	0.64402	D	0.000001	T	0.12987	0.0315	L	0.34521	1.04	0.52099	D	0.999941	D	0.55800	0.973	B	0.34346	0.18	T	0.06356	-1.0831	10	0.59425	D	0.04	-5.8807	10.9517	0.47334	0.9276:0.0:0.0724:0.0	.	20	P21580	TNAP3_HUMAN	Q	20	ENSP00000401562:K20Q;ENSP00000237289:K20Q	ENSP00000237289:K20Q	K	+	1	0	TNFAIP3	138234115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.837000	0.75354	2.285000	0.76669	0.533000	0.62120	AAG		0.403	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			C	138192422	A	C	138192422	3	2	46	1	0	0	0	0	1	0	0	0	16274	247	9	5	60	5	TNFAIP3	6	138192422	Missense_Mutation	SNP	A	TCGA-09-1669-01A-01W-0615-10	6145080	138192422	32922645	20	2206											
NOX3	50508	hgsc.bcm.edu	37	6	155761198	155761198	+	Missense_Mutation	SNP	A	A	T	rs199815687		TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr6:155761198A>T	ENST00000159060.2	-	6	662	c.560T>A	c.(559-561)aTc>aAc	p.I187N		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	187	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.I187N(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGAGGTCATGATCAAGACTAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	6											147	136	140					6																	155761198		2203	4300	6503	155802890	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.560T>A	6.37:g.155761198A>T	ENSP00000159060:p.Ile187Asn		155802890	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918994	0.73098	.	.	ENSG00000074771	ENST00000159060	D	0.91740	-2.9	5.83	5.83	0.93111	Flavoprotein transmembrane component (1);	0.090412	0.48286	D	0.000189	D	0.95626	0.8578	M	0.83483	2.645	0.58432	D	0.999992	D	0.67145	0.996	D	0.70016	0.967	D	0.96266	0.9195	10	0.87932	D	0	-16.1799	16.1946	0.82018	1.0:0.0:0.0:0.0	.	187	Q9HBY0	NOX3_HUMAN	N	187	ENSP00000159060:I187N	ENSP00000159060:I187N	I	-	2	0	NOX3	155802890	1.000000	0.71417	0.997000	0.53966	0.337000	0.28794	6.901000	0.75693	2.228000	0.72767	0.528000	0.53228	ATC		0.438	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			T	155761198	A	T	155761198	3	4	46	1	0	0	0	0	1	0	0	0	10557	333	12	5	1178	5	NOX3	6	155761198	Missense_Mutation	SNP	A	TCGA-09-1669-01A-01W-0615-10	17568776	155761198	15353869	21	2207											
DLC1	10395	hgsc.bcm.edu	37	8	12947955	12947955	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr8:12947955G>A	ENST00000276297.4	-	15	4289	c.3880C>T	c.(3880-3882)Cgt>Tgt	p.R1294C	DLC1_ENST00000358919.2_Missense_Mutation_p.R857C|DLC1_ENST00000512044.2_Missense_Mutation_p.R891C|DLC1_ENST00000520226.1_Missense_Mutation_p.R783C|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1294					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R1294C(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TAGGAATTACGACATCGGCTC	0.512																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	8											96	85	89					8																	12947955		2203	4300	6503	12992326	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3880C>T	8.37:g.12947955G>A	ENSP00000276297:p.Arg1294Cys		12992326	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041115	0.55003	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.07216	3.46;3.22;3.22;3.21	5.32	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.87578	0.893;0.985;0.998	T	0.00366	-1.1786	10	0.42905	T	0.14	.	10.499	0.44794	0.069:0.0:0.7972:0.1337	.	1294;891;857	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1294;857;233;891;783	ENSP00000276297:R1294C;ENSP00000351797:R857C;ENSP00000422595:R891C;ENSP00000428028:R783C	ENSP00000276297:R1294C	R	-	1	0	DLC1	12992326	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	4.784000	0.62411	0.906000	0.36621	0.655000	0.94253	CGT		0.512	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		A	12947955	G	A	12947955	3	1	46	1	0	0	0	0	1	0	0	0	4550	1058	37	1	722	1	DLC1	8	12947955	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10		12947955	133416067	22	2208											
TEK	7010	hgsc.bcm.edu	37	9	27169607	27169607	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr9:27169607T>A	ENST00000380036.4	+	4	1050	c.608T>A	c.(607-609)tTc>tAc	p.F203Y	TEK_ENST00000406359.4_Missense_Mutation_p.F203Y|TEK_ENST00000519097.1_Missense_Mutation_p.F99Y	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	203					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F203Y(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ACCTCGGCCTTCACCAGGCTG	0.473																																																1	Substitution - Missense(1)	ovary(1)	9											104	96	99					9																	27169607		2203	4300	6503	27159607	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.608T>A	9.37:g.27169607T>A	ENSP00000369375:p.Phe203Tyr		27159607	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679915	0.47886	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.74315	-0.78;-0.8;-0.83;2.87	5.48	5.48	0.80851	Immunoglobulin-like fold (1);	0.123114	0.37348	N	0.002137	T	0.61476	0.2350	L	0.28115	0.83	0.35413	D	0.792585	B;B;B;B;B;B	0.17852	0.005;0.013;0.015;0.024;0.014;0.006	B;B;B;B;B;B	0.22152	0.003;0.038;0.014;0.008;0.008;0.008	T	0.64419	-0.6412	10	0.32370	T	0.25	.	10.6149	0.45445	0.1791:0.0:0.0:0.8209	.	99;236;203;56;203;203	E7EWI2;Q59HG2;B5A953;E5RIV9;B4DHD3;Q02763	.;.;.;.;.;TIE2_HUMAN	Y	99;203;203;203;56	ENSP00000430686:F99Y;ENSP00000369375:F203Y;ENSP00000383977:F203Y;ENSP00000428337:F56Y	ENSP00000343716:F203Y	F	+	2	0	TEK	27159607	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.954000	0.56708	2.211000	0.71520	0.459000	0.35465	TTC		0.473	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			A	27169607	T	A	27169607	3	1	46	1	0	0	0	0	1	0	0	0	15751	1783	62	5	622	5	TEK	9	27169607	Missense_Mutation	SNP	T	TCGA-09-1669-01A-01W-0615-10		27169607	114043824	23	2209											
C9orf72	203228	hgsc.bcm.edu	37	9	27558578	27558578	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr9:27558578T>C	ENST00000380003.3	-	7	829	c.766A>G	c.(766-768)Act>Gct	p.T256A	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	256					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.T256A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TCTGCTGGAGTCAGAAAAAGG	0.338																																																1	Substitution - Missense(1)	ovary(1)	9											61	61	61					9																	27558578		2202	4298	6500	27548578	SO:0001583	missense	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.766A>G	9.37:g.27558578T>C	ENSP00000369339:p.Thr256Ala		27548578	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082292	0.55861	.	.	ENSG00000147894	ENST00000380003	T	0.44482	0.92	5.93	5.93	0.95920	.	0.046386	0.85682	D	0.000000	T	0.35422	0.0931	L	0.39898	1.24	0.80722	D	1	B	0.26147	0.143	B	0.30572	0.117	T	0.15321	-1.0441	9	.	.	.	.	11.4643	0.50230	0.1342:0.0:0.0:0.8658	.	256	Q96LT7	CI072_HUMAN	A	256	ENSP00000369339:T256A	.	T	-	1	0	C9orf72	27548578	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.583000	0.67484	2.258000	0.74832	0.533000	0.62120	ACT		0.338	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		C	27558578	T	C	27558578	3	2	46	1	0	0	0	0	1	0	0	0	2495	1667	58	4	699	4	C9orf72	9	27558578	Missense_Mutation	SNP	T	TCGA-09-1669-01A-01W-0615-10	388971	27558578	113654853	24	2210											
TMEM8B	51754	hgsc.bcm.edu	37	9	35842574	35842574	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr9:35842574G>A	ENST00000377991.4	+	7	1154	c.139G>A	c.(139-141)Gac>Aac	p.D47N	TMEM8B_ENST00000377988.2_Missense_Mutation_p.D47N|TMEM8B_ENST00000377996.1_Missense_Mutation_p.D47N|TMEM8B_ENST00000439587.2_Missense_Mutation_p.D47N|TMEM8B_ENST00000473947.1_Intron	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	47					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D47N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CAACGAGCTGGACACCTTCTC	0.652																																																1	Substitution - Missense(1)	ovary(1)	9											94	74	81					9																	35842574		2203	4300	6503	35832574	SO:0001583	missense	51754			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.139G>A	9.37:g.35842574G>A	ENSP00000367230:p.Asp47Asn		35832574	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419241	0.96092	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.67698	-0.28;-0.28;-0.07;-0.07	5.54	5.54	0.83059	.	0.045965	0.85682	D	0.000000	T	0.81054	0.4743	M	0.69358	2.11	0.48762	D	0.999704	D;P	0.63880	0.993;0.911	D;P	0.72338	0.977;0.479	T	0.81904	-0.0719	10	0.72032	D	0.01	-11.2432	18.424	0.90602	0.0:0.0:1.0:0.0	.	47;411	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	N	47	ENSP00000367235:D47N;ENSP00000395810:D47N;ENSP00000367230:D47N;ENSP00000367227:D47N	ENSP00000367227:D47N	D	+	1	0	TMEM8B	35832574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.643000	0.83403	2.769000	0.95229	0.563000	0.77884	GAC		0.652	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		A	35842574	G	A	35842574	3	1	46	1	0	0	0	0	1	0	0	0	16215	1174	41	2	141	2	TMEM8B	9	35842574	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	8283996	35842574	105370857	25	2211											
C10orf118	55088	hgsc.bcm.edu	37	10	115894803	115894803	+	Silent	SNP	T	T	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr10:115894803T>G	ENST00000369287.3	-	10	1790	c.1524A>C	c.(1522-1524)ctA>ctC	p.L508L	C10orf118_ENST00000543782.1_Silent_p.L106L	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		508								p.L508L(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GTTCATCTTCTAGACATTTCA	0.274																																																1	Substitution - coding silent(1)	ovary(1)	10											84	83	83					10																	115894803		2203	4298	6501	115884793	SO:0001819	synonymous_variant	55088																														ENST00000369287.3:c.1524A>C	10.37:g.115894803T>G			115884793	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	37	CCDS7587.1																																																																																				0.274	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			G	115894803	T	G	115894803	2	3	46	1	0	0	0	0	0	0	0	1	1587	1509	53	5		5	C10orf118	10	115894803	Silent	SNP	T	TCGA-09-1669-01A-01W-0615-10		115894803	19639944	26	2212											
SART1	9092	hgsc.bcm.edu	37	11	65745239	65745239	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr11:65745239A>G	ENST00000312397.5	+	17	2133	c.2041A>G	c.(2041-2043)Atc>Gtc	p.I681V		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	681					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I681V(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCCAGGGCCATCGATGACAA	0.602																																																1	Substitution - Missense(1)	ovary(1)	11											80	74	76					11																	65745239		2201	4296	6497	65501815	SO:0001583	missense	9092			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.2041A>G	11.37:g.65745239A>G	ENSP00000310448:p.Ile681Val		65501815	A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.771719	0.31320	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.22336	1.96	4.32	4.32	0.51571	.	0.065161	0.56097	D	0.000026	T	0.19446	0.0467	L	0.41356	1.27	0.42524	D	0.993011	B	0.29988	0.264	B	0.32022	0.139	T	0.06826	-1.0805	10	0.87932	D	0	-7.8253	11.463	0.50221	1.0:0.0:0.0:0.0	.	681	O43290	SNUT1_HUMAN	V	681;523	ENSP00000310448:I681V	ENSP00000310448:I681V	I	+	1	0	SART1	65501815	1.000000	0.71417	0.998000	0.56505	0.319000	0.28217	6.260000	0.72502	1.815000	0.52974	0.402000	0.26972	ATC		0.602	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			G	65745239	A	G	65745239	3	3	46	1	0	0	0	0	1	0	0	0	13849	217	8	4	2107	4	SART1	11	65745239	Missense_Mutation	SNP	A	TCGA-09-1669-01A-01W-0615-10		65745239	69261277	27	2213											
TMEM135	65084	hgsc.bcm.edu	37	11	86778793	86778793	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr11:86778793G>C	ENST00000305494.5	+	2	238	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	TMEM135_ENST00000340353.7_Missense_Mutation_p.E67Q|TMEM135_ENST00000355734.4_Missense_Mutation_p.E67Q|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_5'UTR	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	67					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)		p.E67Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACTACTCCCTGAGATCCTACA	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											125	121	122					11																	86778793		2201	4299	6500	86456441	SO:0001583	missense	65084			BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.199G>C	11.37:g.86778793G>C	ENSP00000306344:p.Glu67Gln		86456441	Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139549	0.77775	.	.	ENSG00000166575	ENST00000340353;ENST00000526733;ENST00000525018;ENST00000355734;ENST00000305494	T;T;T	0.48836	0.88;0.8;0.92	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	P;D;D	0.74348	0.905;0.983;0.966	T	0.63377	-0.6651	9	.	.	.	-9.7214	17.9762	0.89128	0.0:0.0:1.0:0.0	.	67;67;67	Q86UB9-2;Q86UB9;Q8N605	.;TM135_HUMAN;.	Q	67	ENSP00000345513:E67Q;ENSP00000433927:E67Q;ENSP00000306344:E67Q	.	E	+	1	0	TMEM135	86456441	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	8.800000	0.91900	2.497000	0.84241	0.563000	0.77884	GAG		0.363	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		C	86778793	G	C	86778793	3	2	46	1	0	0	0	0	1	0	0	0	16051	1291	45	3	205	3	TMEM135	11	86778793	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	21033554	86778793	48227723	28	2214											
UBE4A	9354	hgsc.bcm.edu	37	11	118260580	118260580	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr11:118260580C>A	ENST00000431736.2	+	17	2821	c.2749C>A	c.(2749-2751)Cag>Aag	p.Q917K	UBE4A_ENST00000252108.3_Missense_Mutation_p.Q910K|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q382K					ubiquitination factor E4A									p.Q917K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CAAACCCCAGCAGCTTGTATC	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											107	102	104					11																	118260580		2200	4296	6496	117765790	SO:0001583	missense	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2749C>A	11.37:g.118260580C>A	ENSP00000387362:p.Gln917Lys		117765790		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413582	0.83449	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.66815	-0.23;-0.23;0.91	5.72	5.72	0.89469	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.55481	1.735	0.80722	D	1	P;D	0.57899	0.692;0.981	P;P	0.53593	0.57;0.73	T	0.65034	-0.6266	10	0.08381	T	0.77	-9.0578	19.8868	0.96915	0.0:1.0:0.0:0.0	.	910;917	Q14139;Q14139-2	UBE4A_HUMAN;.	K	910;917;382	ENSP00000252108:Q910K;ENSP00000387362:Q917K;ENSP00000438918:Q382K	ENSP00000252108:Q910K	Q	+	1	0	UBE4A	117765790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.689000	0.91719	0.650000	0.86243	CAG		0.438	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		A	118260580	C	A	118260580	3	1	46	1	0	0	0	0	1	0	0	0	16882	711	25	3	2811	3	UBE4A	11	118260580	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10	31481787	118260580	16745936	29	2215											
FAM186B	84070	hgsc.bcm.edu	37	12	49997067	49997067	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr12:49997067T>C	ENST00000257894.2	-	3	567	c.406A>G	c.(406-408)Aaa>Gaa	p.K136E	FAM186B_ENST00000544141.1_Missense_Mutation_p.K46E|PRPF40B_ENST00000508736.1_Intron|FAM186B_ENST00000551047.1_Missense_Mutation_p.K136E	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	136						protein complex (GO:0043234)		p.K136E(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTAACACTTTCTCCGTCACT	0.512																																																1	Substitution - Missense(1)	ovary(1)	12											242	167	193					12																	49997067		2203	4300	6503	48283334	SO:0001583	missense	84070			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.406A>G	12.37:g.49997067T>C	ENSP00000257894:p.Lys136Glu		48283334	B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157146	0.38119	.	.	ENSG00000135436	ENST00000544141;ENST00000551047;ENST00000257894	T;T;T	0.51817	2.41;0.69;2.69	4.74	3.59	0.41128	.	0.311596	0.23171	N	0.051121	T	0.38081	0.1027	L	0.60455	1.87	0.27011	N	0.964683	P;P	0.40107	0.703;0.703	B;B	0.34873	0.191;0.191	T	0.27706	-1.0066	9	.	.	.	-10.1694	7.2663	0.26232	0.0:0.1032:0.0:0.8968	.	46;136	B4DZ15;Q8IYM0	.;F186B_HUMAN	E	46;136;136	ENSP00000438569:K46E;ENSP00000448656:K136E;ENSP00000257894:K136E	.	K	-	1	0	FAM186B	48283334	0.987000	0.35691	0.931000	0.37212	0.039000	0.13416	2.144000	0.42197	0.767000	0.33267	0.533000	0.62120	AAA		0.512	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		C	49997067	T	C	49997067	3	2	46	1	0	0	0	0	1	0	0	0	5512	1792	62	4	2295	4	FAM186B	12	49997067	Missense_Mutation	SNP	T	TCGA-09-1669-01A-01W-0615-10		49997067	83854828	30	2216											
HSP90B1	7184	hgsc.bcm.edu	37	12	104324315	104324315	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr12:104324315G>C	ENST00000299767.5	+	1	204	c.22G>C	c.(22-24)Ggc>Cgc	p.G8R	RP11-642P15.1_ENST00000548897.1_RNA|MIR3652_ENST00000579335.1_RNA	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	8					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.G8R(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTGGGTGCTGGGCCTCTGCTG	0.677																																																1	Substitution - Missense(1)	ovary(1)	12											31	28	29					12																	104324315		2203	4299	6502	102848445	SO:0001583	missense	7184			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.22G>C	12.37:g.104324315G>C	ENSP00000299767:p.Gly8Arg		102848445	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592102	0.86953	.	.	ENSG00000166598	ENST00000299767;ENST00000421266;ENST00000537375	T	0.19105	2.17	5.38	5.38	0.77491	.	0.049241	0.85682	D	0.000000	T	0.44871	0.1314	M	0.75447	2.3	0.80722	D	1	D;P	0.58268	0.982;0.89	P;P	0.58172	0.834;0.642	T	0.35076	-0.9803	10	0.59425	D	0.04	.	19.3294	0.94280	0.0:0.0:1.0:0.0	.	34;8	Q59FC6;P14625	.;ENPL_HUMAN	R	8	ENSP00000299767:G8R	ENSP00000299767:G8R	G	+	1	0	HSP90B1	102848445	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.267000	0.89874	2.804000	0.96469	0.462000	0.41574	GGC		0.677	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		C	104324315	G	C	104324315	3	2	46	1	0	0	0	0	1	0	0	0	7403	1232	43	3	24	3	HSP90B1	12	104324315	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	54327248	104324315	29527580	31	2217											
KTN1	3895	hgsc.bcm.edu	37	14	56119763	56119763	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr14:56119763A>G	ENST00000395314.3	+	27	2791	c.2723A>G	c.(2722-2724)aAa>aGa	p.K908R	KTN1_ENST00000395309.3_Missense_Mutation_p.K908R|KTN1_ENST00000395308.1_Missense_Mutation_p.K885R|KTN1_ENST00000554507.1_Missense_Mutation_p.K203R|KTN1_ENST00000413890.2_Missense_Mutation_p.K885R|KTN1_ENST00000395311.1_Missense_Mutation_p.K885R|Y_RNA_ENST00000363872.1_RNA|KTN1_ENST00000438792.2_Missense_Mutation_p.K908R|KTN1_ENST00000416613.1_Missense_Mutation_p.K908R	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	908					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.K908R(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAATCTTTAAAAGCACATGTT	0.264			T	RET	papillary thryoid																																		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	1	Substitution - Missense(1)	ovary(1)	14											337	363	354					14																	56119763		2201	4294	6495	55189516	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2723A>G	14.37:g.56119763A>G	ENSP00000378725:p.Lys908Arg		55189516	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043825	0.36085	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507	T;T;T;T;T;T;T;T	0.52983	1.55;1.44;1.36;1.44;1.55;1.55;1.44;0.64	5.42	5.42	0.78866	.	0.148866	0.31566	N	0.007438	T	0.52933	0.1765	L	0.46157	1.445	0.24444	N	0.994516	P;D;P;P;P	0.62365	0.763;0.991;0.884;0.804;0.763	B;P;P;B;B	0.57324	0.288;0.818;0.559;0.36;0.288	T	0.46610	-0.9179	10	0.19590	T	0.45	-15.8496	12.2458	0.54571	0.8483:0.1517:0.0:0.0	.	908;203;908;885;908	B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;KTN1_HUMAN	R	885;908;908;908;885;885;908;203	ENSP00000394992:K885R;ENSP00000378720:K908R;ENSP00000391964:K908R;ENSP00000378725:K908R;ENSP00000378719:K885R;ENSP00000378722:K885R;ENSP00000388807:K908R;ENSP00000452073:K203R	ENSP00000378719:K885R	K	+	2	0	KTN1	55189516	0.542000	0.26426	0.838000	0.33150	0.637000	0.38172	1.212000	0.32394	2.044000	0.60594	0.477000	0.44152	AAA		0.264	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			G	56119763	A	G	56119763	3	3	46	1	0	0	0	0	1	0	0	0	8585	14	1	4	2825	4	KTN1	14	56119763	Missense_Mutation	SNP	A	TCGA-09-1669-01A-01W-0615-10		56119763	51229777	32	2218											
SPTB	6710	hgsc.bcm.edu	37	14	65262267	65262267	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr14:65262267C>G	ENST00000389721.5	-	11	1464	c.1432G>C	c.(1432-1434)Gtg>Ctg	p.V478L	SPTB_ENST00000389722.3_Missense_Mutation_p.V478L|SPTB_ENST00000542895.1_Missense_Mutation_p.V478L|SPTB_ENST00000389720.3_Missense_Mutation_p.V478L|SPTB_ENST00000556626.1_Missense_Mutation_p.V478L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	478					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.V478L(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGGCTCTCACCCGCTCCTCG	0.597																																																1	Substitution - Missense(1)	ovary(1)	14											90	84	86					14																	65262267		2203	4300	6503	64332020	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1432G>C	14.37:g.65262267C>G	ENSP00000374371:p.Val478Leu		64332020	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	36	5.613693	0.96637	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	M	0.90542	3.125	0.80722	D	1	D;D	0.67145	0.996;0.995	D;D	0.68039	0.941;0.955	T	0.78633	-0.2128	10	0.59425	D	0.04	.	18.9672	0.92701	0.0:1.0:0.0:0.0	.	478;482	P11277;Q59FP5	SPTB1_HUMAN;.	L	482;478;478;478;478;478	ENSP00000374372:V478L;ENSP00000451752:V478L;ENSP00000374371:V478L;ENSP00000443882:V478L;ENSP00000374370:V478L	ENSP00000374370:V478L	V	-	1	0	SPTB	64332020	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.815000	0.86186	2.780000	0.95670	0.655000	0.94253	GTG		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			G	65262267	C	G	65262267	3	3	46	1	0	0	0	0	1	0	0	0	15120	507	18	3	5723	3	SPTB	14	65262267	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10	9142504	65262267	42087273	33	2219											
CRTC3	64784	hgsc.bcm.edu	37	15	91147677	91147677	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr15:91147677C>G	ENST00000268184.6	+	5	478	c.474C>G	c.(472-474)aaC>aaG	p.N158K	CTD-3065B20.3_ENST00000559839.1_RNA|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000420329.2_Missense_Mutation_p.N158K			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	158					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.N158K(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGCACTTAACAGGTACATGG	0.393			T	MAML2	salivary gland mucoepidermoid																																		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	1	Substitution - Missense(1)	ovary(1)	15											115	111	112					15																	91147677		2198	4298	6496	88948681	SO:0001583	missense	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.474C>G	15.37:g.91147677C>G	ENSP00000268184:p.Asn158Lys		88948681	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987753	0.53934	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.12465	2.68;2.68	6.03	5.11	0.69529	.	0.130222	0.48767	D	0.000171	T	0.13243	0.0321	L	0.50333	1.59	0.44780	D	0.997785	B;B	0.33637	0.296;0.42	B;B	0.29176	0.046;0.099	T	0.03662	-1.1015	10	0.45353	T	0.12	-22.7053	10.9987	0.47591	0.0:0.9153:0.0:0.0847	.	158;158	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	K	122;158;158	ENSP00000268184:N158K;ENSP00000416573:N158K	ENSP00000268184:N158K	N	+	3	2	CRTC3	88948681	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.133000	0.42093	1.551000	0.49450	0.655000	0.94253	AAC		0.393	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		G	91147677	C	G	91147677	3	3	46	1	0	0	0	0	1	0	0	0	3901	477	17	3	492	3	CRTC3	15	91147677	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10		91147677	11383715	34	2220											
TP53	7157	hgsc.bcm.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr17:7576852C>T	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site	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						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.?(24)|p.0?(8)|p.I332fs*49(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)	AGACTTAGTACCTGAAGGGTG	0.458		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"	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	17	GRCh37	CD002536	TP53	D	rs11575997						115	108	111					17																	7576852		2203	4300	6503	7517577	SO:0001630	splice_region_variant	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.993+1G>A	17.37:g.7576852C>T			7517577	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361474	0.41801	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7576852	C	T	7576852	5	4	46	1	0	0	0	0	0	0	1	0	16381	521	18	2	288	2	TP53	17	7576852	Splice_Site	SNP	C	TCGA-09-1669-01A-01W-0615-10		7576852	73618358	35	2221											
TEKT3	64518	hgsc.bcm.edu	37	17	15234458	15234458	+	Missense_Mutation	SNP	G	G	A	rs200458813		TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr17:15234458G>A	ENST00000395930.1	-	3	631	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	TEKT3_ENST00000338696.2_Missense_Mutation_p.R149C	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	149					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R149C(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCATTGACACGTTCTCCCAGA	0.383													G|||	1	0.000199681	0	0	5008	,	,		19464	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	17						G	CYS/ARG	0,4406		0,0,2203	229	209	216		445	4.6	1	17		216	1,8599	1.2+/-3.3	0,1,4299	no	missense	TEKT3	NM_031898.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	149/491	15234458	1,13005	2203	4300	6503	15175183	SO:0001583	missense	64518			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.445C>T	17.37:g.15234458G>A	ENSP00000379263:p.Arg149Cys		15175183	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328142	0.81690	0.0	1.16E-4	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.10288	2.89;2.89	5.61	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61710	-0.7007	10	0.87932	D	0	-0.5367	16.4838	0.84179	0.0:0.0:0.8688:0.1312	.	149	Q9BXF9	TEKT3_HUMAN	C	149	ENSP00000379263:R149C;ENSP00000343995:R149C	ENSP00000343995:R149C	R	-	1	0	TEKT3	15175183	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.058000	0.57463	2.808000	0.96608	0.655000	0.94253	CGT		0.383	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		A	15234458	G	A	15234458	3	1	46	1	0	0	0	0	1	0	0	0	15754	1145	40	1	1055	1	TEKT3	17	15234458	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	7657606	15234458	65960752	36	2222											
KIF2B	84643	hgsc.bcm.edu	37	17	51902168	51902168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr17:51902168C>T	ENST00000268919.4	+	1	1930	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	592					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q592*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTGAGGAGCAGAAAGAGAT	0.413																																																1	Substitution - Nonsense(1)	ovary(1)	17											124	123	123					17																	51902168		2203	4300	6503	49257167	SO:0001587	stop_gained	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1774C>T	17.37:g.51902168C>T	ENSP00000268919:p.Gln592*		49257167	Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427549	0.62733	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	.	.	.	5.51	4.54	0.55810	.	0.551367	0.13206	U	0.405576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.5857	0.61928	0.0:0.1637:0.8363:0.0	.	.	.	.	X	592;480	.	ENSP00000268919:Q592X	Q	+	1	0	KIF2B	49257167	0.000000	0.05858	0.031000	0.17742	0.001000	0.01503	0.061000	0.14366	1.449000	0.47699	-0.165000	0.13383	CAG		0.413	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51902168	C	T	51902168	4	4	46	1	0	0	0	0	0	1	0	0	8298	711	25	2	1776	2	KIF2B	17	51902168	Nonsense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10	36667710	51902168	29293042	37	2223											
ABCA5	23461	hgsc.bcm.edu	37	17	67255915	67255915	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr17:67255915C>A	ENST00000392676.3	-	28	3727	c.3663G>T	c.(3661-3663)tgG>tgT	p.W1221C	ABCA5_ENST00000392677.2_Missense_Mutation_p.W1222C|ABCA5_ENST00000588877.1_Missense_Mutation_p.W1221C			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1221					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.W1221C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AGAGGAAAATCCACAGTACAC	0.323																																																1	Substitution - Missense(1)	ovary(1)	17											61	59	59					17																	67255915		2203	4299	6502	64767510	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3663G>T	17.37:g.67255915C>A	ENSP00000376443:p.Trp1221Cys		64767510	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915953	0.73098	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87179	-2.22;-2.22	5.85	5.85	0.93711	.	0.000000	0.51477	D	0.000081	D	0.91737	0.7387	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.90896	0.4765	9	.	.	.	.	15.6152	0.76760	0.0:0.8632:0.1368:0.0	.	1221	Q8WWZ7	ABCA5_HUMAN	C	1222;1221	ENSP00000376444:W1222C;ENSP00000376443:W1221C	.	W	-	3	0	ABCA5	64767510	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.870000	0.63035	2.767000	0.95098	0.563000	0.77884	TGG		0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		A	67255915	C	A	67255915	3	1	46	1	0	0	0	0	1	0	0	0	35	856	30	3	1313	3	ABCA5	17	67255915	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10	15353747	67255915	13939295	38	2224											
RPTOR	57521	hgsc.bcm.edu	37	17	78727815	78727816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr17:78727815_78727816insG	ENST00000306801.3	+	6	1022_1023	c.660_661insG	c.(661-663)gcafs	p.A221fs	RPTOR_ENST00000537330.1_Frame_Shift_Ins_p.A36fs|RPTOR_ENST00000570891.1_Frame_Shift_Ins_p.A221fs|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Frame_Shift_Ins_p.A221fs	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	221					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A221fs*41(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTCAGGTAGCTGCAATCAACCC	0.505																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								76342411	SO:0001589	frameshift_variant	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.661dupG	17.37:g.78727816_78727816dupG	ENSP00000307272:p.Ala221fs		76342410	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Frame_Shift_Ins	INS	ENST00000306801.3	37	CCDS11773.1																																																																																				0.505	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		G	78727816	-	G	78727815	7	5	46	1	0	1	1	0	0	0	0	0	13668	1567	55	0	682	0	RPTOR	17	78727815	Frame_Shift_Ins	INS	-	TCGA-09-1669-01A-01W-0615-10	11471900	78727815	2467395	39	2225											
KCTD1	284252	hgsc.bcm.edu	37	18	24039732	24039732	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr18:24039732G>A	ENST00000408011.3	-	4	1026	c.467C>T	c.(466-468)aCg>aTg	p.T156M	KCTD1_ENST00000417602.1_Missense_Mutation_p.T764M|KCTD1_ENST00000579973.1_Missense_Mutation_p.T156M|KCTD1_ENST00000580059.1_Missense_Mutation_p.T156M|KCTD1_ENST00000317932.7_Missense_Mutation_p.T156M	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	156					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T156M(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ACCGCTTAGCGTGATCCTTTC	0.522																																																1	Substitution - Missense(1)	ovary(1)	18											129	109	115					18																	24039732		2203	4300	6503	22293730	SO:0001583	missense	284252			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.467C>T	18.37:g.24039732G>A	ENSP00000384367:p.Thr156Met		22293730	A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861542	0.32884	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.77358	-0.71;-1.09;-0.71	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	N	0.04508	-0.205	0.58432	D	0.999999	B	0.17038	0.02	B	0.10450	0.005	T	0.56068	-0.8040	10	0.15952	T	0.53	.	19.1034	0.93283	0.0:0.0:1.0:0.0	.	156	Q719H9	KCTD1_HUMAN	M	156;764;156	ENSP00000314831:T156M;ENSP00000408405:T764M;ENSP00000384367:T156M	ENSP00000314831:T156M	T	-	2	0	KCTD1	22293730	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	5.108000	0.64609	2.517000	0.84864	0.655000	0.94253	ACG		0.522	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		A	24039732	G	A	24039732	3	1	46	1	0	0	0	0	1	0	0	0	8096	1145	40	1	314	1	KCTD1	18	24039732	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10		24039732	54037516	40	2226											
ZNF555	148254	hgsc.bcm.edu	37	19	2853696	2853696	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr19:2853696T>C	ENST00000334241.4	+	4	1771	c.1633T>C	c.(1633-1635)Ttc>Ctc	p.F545L	ZNF555_ENST00000591539.1_Missense_Mutation_p.F544L|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F545L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAAGGTCTTCAAATGGCC	0.428																																																1	Substitution - Missense(1)	ovary(1)	19											144	118	127					19																	2853696		2203	4300	6503	2804696	SO:0001583	missense	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1633T>C	19.37:g.2853696T>C	ENSP00000334853:p.Phe545Leu		2804696	A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064782	0.76187	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.46063	0.88	2.93	2.93	0.34026	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54983	0.1892	L	0.52011	1.625	0.32652	N	0.5192	D;D	0.89917	0.999;1.0	D;D	0.87578	0.925;0.998	T	0.63377	-0.6651	9	0.87932	D	0	.	9.242	0.37502	0.0:0.0:0.0:1.0	.	545;544	Q8NEP9;A8KA89	ZN555_HUMAN;.	L	545;460	ENSP00000334853:F545L	ENSP00000334853:F545L	F	+	1	0	ZNF555	2804696	1.000000	0.71417	0.511000	0.27724	0.943000	0.58893	7.073000	0.76784	1.346000	0.45694	0.379000	0.24179	TTC		0.428	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		C	2853696	T	C	2853696	3	2	46	1	0	0	0	0	1	0	0	0	17986	1609	56	4	1647	4	ZNF555	19	2853696	Missense_Mutation	SNP	T	TCGA-09-1669-01A-01W-0615-10		2853696	56275287	41	2227											
ZNF559	84527	hgsc.bcm.edu	37	19	9452608	9452608	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr19:9452608C>A	ENST00000393883.2	+	6	1129	c.481C>A	c.(481-483)Cat>Aat	p.H161N	ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.H225N|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.H81N|ZNF559_ENST00000603380.1_Missense_Mutation_p.H161N|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000592504.1_3'UTR|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H161N(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CCAACATCTACATCTTGTTTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	19											112	113	113					19																	9452608		2203	4300	6503	9313608	SO:0001583	missense	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.481C>A	19.37:g.9452608C>A	ENSP00000377461:p.His161Asn		9313608	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.327153	0.01309	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.59364	0.27;3.42	0.961	-1.92	0.07618	.	.	.	.	.	T	0.33904	0.0879	N	0.16862	0.45	0.09310	N	1	B;B;P	0.39094	0.002;0.014;0.659	B;B;B	0.42959	0.002;0.002;0.403	T	0.21930	-1.0231	9	0.11182	T	0.66	.	1.6711	0.02812	0.3517:0.3404:0.0:0.3079	.	161;161;81	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	N	161;81;161	ENSP00000442832:H81N;ENSP00000377461:H161N	ENSP00000325393:H161N	H	+	1	0	ZNF559	9313608	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-2.538000	0.00938	-0.808000	0.04387	0.393000	0.25936	CAT		0.368	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		A	9452608	C	A	9452608	3	1	46	1	0	0	0	0	1	0	0	0	17990	478	17	3	495	3	ZNF559	19	9452608	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10	6598912	9452608	49676375	42	2228											
ELAVL3	1995	hgsc.bcm.edu	37	19	11569363	11569363	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr19:11569363G>A	ENST00000359227.3	-	4	821	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	ELAVL3_ENST00000438662.2_Missense_Mutation_p.P133S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	133	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.P133S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATGGTCTTGGGGAGCCCGCTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											134	118	124					19																	11569363		2203	4300	6503	11430363	SO:0001583	missense	1995				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.397C>T	19.37:g.11569363G>A	ENSP00000352162:p.Pro133Ser		11430363	Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263436	0.95399	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.22134	3.05;1.97	4.96	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.45422	1.42	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.73380	0.98;0.84	T	0.21586	-1.0241	10	0.72032	D	0.01	.	16.9656	0.86285	0.0:0.0:1.0:0.0	.	133;133	Q14576;Q14576-2	ELAV3_HUMAN;.	S	133	ENSP00000352162:P133S;ENSP00000390878:P133S	ENSP00000352162:P133S	P	-	1	0	ELAVL3	11430363	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.719000	0.98760	2.311000	0.77944	0.491000	0.48974	CCC		0.602	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		A	11569363	G	A	11569363	3	1	46	1	0	0	0	0	1	0	0	0	5051	1232	43	2	722	2	ELAVL3	19	11569363	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	2116755	11569363	47559620	43	2229											
TOMM40	10452	hgsc.bcm.edu	37	19	45397256	45397256	+	Silent	SNP	G	G	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr19:45397256G>C	ENST00000426677.2	+	5	756	c.576G>C	c.(574-576)ggG>ggC	p.G192G	TOMM40_ENST00000252487.5_Silent_p.G192G|TOMM40_ENST00000592434.1_Silent_p.G192G|TOMM40_ENST00000405636.2_Silent_p.G192G	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	192					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)	p.G192G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGGTGGACGGGGAGTATCGGG	0.647																																																1	Substitution - coding silent(1)	ovary(1)	19											47	46	46					19																	45397256		2203	4300	6503	50089096	SO:0001819	synonymous_variant	10452			AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.576G>C	19.37:g.45397256G>C			50089096	Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	ENST00000426677.2	37	CCDS12646.1																																																																																				0.647	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			C	45397256	G	C	45397256	2	2	46	1	0	0	0	0	0	0	0	1	16358	1219	43	3		3	TOMM40	19	45397256	Silent	SNP	G	TCGA-09-1669-01A-01W-0615-10	33827893	45397256	13731727	44	2230											
CDH22	64405	hgsc.bcm.edu	37	20	44869781	44869781	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr20:44869781C>T	ENST00000372262.3	-	2	771	c.371G>A	c.(370-372)cGc>cAc	p.R124H	CDH22_ENST00000537909.1_Missense_Mutation_p.R124H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R124H(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCGGTCCAGGCGCTCCATGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											80	67	71					20																	44869781		2203	4300	6503	44303188	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.371G>A	20.37:g.44869781C>T	ENSP00000361336:p.Arg124His		44303188	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544710	0.86022	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.53640	0.61;0.61	4.21	4.21	0.49690	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.82433	2.59	0.49915	D	0.999834	D	0.89917	1.0	D	0.85130	0.997	T	0.76788	-0.2830	10	0.72032	D	0.01	.	16.127	0.81402	0.0:1.0:0.0:0.0	.	124	Q9UJ99	CAD22_HUMAN	H	124	ENSP00000361336:R124H;ENSP00000437790:R124H	ENSP00000361336:R124H	R	-	2	0	CDH22	44303188	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.539000	0.67199	2.364000	0.80123	0.455000	0.32223	CGC		0.622	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		T	44869781	C	T	44869781	3	4	46	1	0	0	0	0	1	0	0	0	3107	768	27	1	2155	1	CDH22	20	44869781	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10		44869781	18155739	45	2231											
SALL4	57167	hgsc.bcm.edu	37	20	50406888	50406888	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr20:50406888G>A	ENST00000217086.4	-	2	2245	c.2134C>T	c.(2134-2136)Ctt>Ttt	p.L712F	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	712					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L712F(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGCTGGGAAGAGGCGTGGGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											40	38	39					20																	50406888		2203	4300	6503	49840295	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2134C>T	20.37:g.50406888G>A	ENSP00000217086:p.Leu712Phe		49840295	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204892	0.01568	.	.	ENSG00000101115	ENST00000217086	T	0.09350	2.99	5.47	1.95	0.26073	.	0.382752	0.19354	N	0.116306	T	0.07143	0.0181	L	0.41415	1.275	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41088	-0.9528	10	0.11485	T	0.65	-10.0869	5.4989	0.16817	0.147:0.3991:0.4538:0.0	.	712	Q9UJQ4	SALL4_HUMAN	F	712	ENSP00000217086:L712F	ENSP00000217086:L712F	L	-	1	0	SALL4	49840295	0.005000	0.15991	0.014000	0.15608	0.002000	0.02628	1.647000	0.37260	0.621000	0.30232	-0.304000	0.09214	CTT		0.587	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			A	50406888	G	A	50406888	3	1	46	1	0	0	0	0	1	0	0	0	13816	942	33	2	1039	2	SALL4	20	50406888	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	5537107	50406888	12618632	46	2232											
HIRA	7290	hgsc.bcm.edu	37	22	19373104	19373104	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr22:19373104C>G	ENST00000263208.5	-	12	1525	c.1269G>C	c.(1267-1269)atG>atC	p.M423I	HIRA_ENST00000541063.1_Missense_Mutation_p.M379I|HIRA_ENST00000340170.4_Missense_Mutation_p.M423I|HIRA_ENST00000546308.1_Missense_Mutation_p.M379I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	423	Interaction with ASF1A.|Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.M423I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGGCTGAGCCCATCTCCCTGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	22											92	80	84					22																	19373104		2203	4300	6503	17753104	SO:0001583	missense	7290			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1269G>C	22.37:g.19373104C>G	ENSP00000263208:p.Met423Ile		17753104	Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	9.853	1.194284	0.22037	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.70869	-0.29;-0.52;-0.36;-0.31	5.44	-10.9	0.00192	.	0.598307	0.17529	N	0.170941	T	0.37404	0.1002	N	0.08118	0	0.19300	N	0.99998	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.001;0.004;0.0	T	0.14811	-1.0459	10	0.38643	T	0.18	-1.233	7.0802	0.25227	0.1642:0.5044:0.1316:0.1997	.	379;423;423	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	I	423;423;379;379	ENSP00000345350:M423I;ENSP00000263208:M423I;ENSP00000446073:M379I;ENSP00000441870:M379I	ENSP00000263208:M423I	M	-	3	0	HIRA	17753104	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.854000	0.01664	-3.487000	0.00154	-0.290000	0.09829	ATG		0.572	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		G	19373104	C	G	19373104	3	3	46	1	0	0	0	0	1	0	0	0	7120	594	21	3	1840	3	HIRA	22	19373104	Missense_Mutation	SNP	C	TCGA-09-1669-01A-01W-0615-10		19373104	31931462	47	2233											
MYH9	4627	hgsc.bcm.edu	37	22	36712628	36712628	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr22:36712628G>T	ENST00000216181.5	-	12	1544	c.1314C>A	c.(1312-1314)gaC>gaA	p.D438E	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	438	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.D438E(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTTGGTCTTGTCCAGAGCCT	0.607			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	1	Substitution - Missense(1)	ovary(1)	22											91	87	89					22																	36712628		2203	4300	6503	35042574	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1314C>A	22.37:g.36712628G>T	ENSP00000216181:p.Asp438Glu		35042574	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580289	0.86645	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.87103	-2.21	5.1	4.07	0.47477	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	L	0.56199	1.76	0.80722	D	1	P	0.38597	0.639	B	0.37239	0.244	T	0.81324	-0.0984	10	0.45353	T	0.12	.	8.5592	0.33501	0.1807:0.0:0.8193:0.0	.	438	P35579	MYH9_HUMAN	E	302;438	ENSP00000216181:D438E	ENSP00000216181:D438E	D	-	3	2	MYH9	35042574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.263000	0.51546	2.538000	0.85594	0.585000	0.79938	GAC		0.607	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36712628	G	T	36712628	3	4	46	1	0	0	0	0	1	0	0	0	10042	1368	48	3	4688	3	MYH9	22	36712628	Missense_Mutation	SNP	G	TCGA-09-1669-01A-01W-0615-10	17339524	36712628	14591938	48	2234											
APOBEC3H	164668	hgsc.bcm.edu	37	22	39497388	39497388	+	Silent	SNP	C	C	T			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr22:39497388C>T	ENST00000401756.1	+	3	373	c.297C>T	c.(295-297)caC>caT	p.H99H	APOBEC3H_ENST00000348946.4_Silent_p.H99H|APOBEC3H_ENST00000421988.2_Silent_p.H99H|APOBEC3H_ENST00000442487.3_Silent_p.H99H	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	99					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)	p.H99H(1)		central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TCAAGGCTCACGACCATCTGA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	22											115	81	93					22																	39497388		2203	4300	6503	37827334	SO:0001819	synonymous_variant	164668			BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"Apolipoprotein B mRNA editing enzymes"	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.297C>T	22.37:g.39497388C>T			37827334	B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Silent	SNP	ENST00000401756.1	37	CCDS54530.1																																																																																				0.612	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773		T	39497388	C	T	39497388	2	4	46	1	0	0	0	0	0	0	0	1	795	535	19	1		1	APOBEC3H	22	39497388	Silent	SNP	C	TCGA-09-1669-01A-01W-0615-10	2784760	39497388	11807178	49	2235											
TBC1D22A	25771	hgsc.bcm.edu	37	22	47433033	47433033	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1669-01A-01W-0615-10	TCGA-09-1669-10A-01W-0616-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3842cd55-d850-42b0-a79b-dc8f21688744	1cadae9b-cb52-4ba8-90e0-1e9078d6f279	g.chr22:47433033A>C	ENST00000337137.4	+	11	1434	c.1268A>C	c.(1267-1269)aAc>aCc	p.N423T	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.N376T|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.N345T|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.N364T	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	423	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.N423T(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGCTGGATGAACAACCTGCTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	22											125	100	108					22																	47433033		2203	4300	6503	45811697	SO:0001583	missense	25771			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1268A>C	22.37:g.47433033A>C	ENSP00000336724:p.Asn423Thr		45811697	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250837	0.80135	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	4.59	4.59	0.56863	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;0.995	D;D;D;D	0.91635	0.947;0.997;0.999;0.947	T	0.01330	-1.1383	10	0.41790	T	0.15	.	12.943	0.58357	1.0:0.0:0.0:0.0	.	423;345;364;423	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	T	423;364;345;376	ENSP00000336724:N423T;ENSP00000384036:N364T;ENSP00000347932:N345T;ENSP00000385634:N376T	ENSP00000336724:N423T	N	+	2	0	TBC1D22A	45811697	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.295000	0.89937	1.912000	0.55364	0.379000	0.24179	AAC		0.597	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		C	47433033	A	C	47433033	3	2	46	1	0	0	0	0	1	0	0	0	15611	43	2	5	1310	5	TBC1D22A	22	47433033	Missense_Mutation	SNP	A	TCGA-09-1669-01A-01W-0615-10	7935645	47433033	3871533	50	2236											
TNNI3K	100526835	genome.wustl.edu	37	1	74834947	74834947	+	Splice_Site	SNP	C	C	T	rs79936844		TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:74834947C>T	ENST00000370899.3	+	17	1811	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	TNNI3K_ENST00000370891.2_Splice_Site_p.R592C|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.R592C|TNNI3K_ENST00000326637.3_Splice_Site_p.R491C|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.R605C	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GGCTATAAAACGGTAAGCAAG	0.333																																																0			1											41	46	44					1																	74834947		2202	4298	6500	74607535	SO:0001630	splice_region_variant	51086					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1775+1C>T	1.37:g.74834947C>T			74607535		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	C	20.8	4.048150	0.75846	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	5.51	4.6	0.57074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115441	0.64402	N	0.000020	T	0.37073	0.0990	L	0.42744	1.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.996	T	0.29852	-0.9998	10	0.52906	T	0.07	.	9.0364	0.36291	0.1468:0.7794:0.0:0.0738	.	491;592;592;592	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	C	592;592;592;592;491;15	ENSP00000359936:R592C;ENSP00000359932:R592C;ENSP00000450895:R592C;ENSP00000359928:R592C;ENSP00000322251:R491C;ENSP00000434975:R15C	ENSP00000322251:R491C	R	+	1	0	RP11-653A5.2;AC093158.1	74607535	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.050000	0.41297	1.326000	0.45319	0.650000	0.86243	CGT		0.333	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		Missense_Mutation	T	74834947	C	T	74834947	5	4	47	1	0	0	0	0	0	0	1	0	16329	550	19	1	1884	1	TNNI3K	1	74834947	Splice_Site	SNP	C	TCGA-09-1670-01A-01W-0633-09		74834947	174415674	1	2237											
C1orf173	127254	genome.wustl.edu	37	1	75037442	75037442	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:75037442C>G	ENST00000326665.5	-	14	4170	c.3952G>C	c.(3952-3954)Ggg>Cgg	p.G1318R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1318	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCATGTCCCCGTCCCCTTCC	0.557																																																0			1											264	231	242					1																	75037442		2203	4300	6503	74810030	SO:0001583	missense	127254																														ENST00000326665.5:c.3952G>C	1.37:g.75037442C>G	ENSP00000322609:p.Gly1318Arg		74810030	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	3.236	-0.156481	0.06544	.	.	ENSG00000178965	ENST00000326665	T	0.24908	1.83	1.58	-3.16	0.05217	.	.	.	.	.	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.44620	-0.9316	9	0.13853	T	0.58	.	3.3929	0.07295	0.0:0.2397:0.2235:0.5369	.	1318	Q5RHP9	CA173_HUMAN	R	1318	ENSP00000322609:G1318R	ENSP00000322609:G1318R	G	-	1	0	C1orf173	74810030	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-2.005000	0.01460	-0.449000	0.07117	-0.448000	0.05591	GGG		0.557	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			G	75037442	C	G	75037442	3	3	47	1	0	0	0	0	1	0	0	0	2014	652	23	3	644	3	C1orf173	1	75037442	Missense_Mutation	SNP	C	TCGA-09-1670-01A-01W-0633-09	202495	75037442	174213179	2	2238											
SH2D2A	9047	genome.wustl.edu	37	1	156779283	156779283	+	Splice_Site	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:156779283C>T	ENST00000368199.3	-	7	868		c.e7-1		SH2D2A_ENST00000368198.3_Splice_Site|SH2D2A_ENST00000392306.2_Splice_Site	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGGAGGGCTGGGAGAGAA	0.672																																																0			1											40	46	44					1																	156779283		2200	4299	6499	155045907	SO:0001630	splice_region_variant	9047			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.715-1G>A	1.37:g.156779283C>T			155045907	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Splice_Site	SNP	ENST00000368199.3	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059758	0.19987	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	.	.	.	3.7	1.58	0.23477	.	.	.	.	.	.	.	.	.	.	.	0.24698	N	0.993271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5532	0.12124	0.0:0.6404:0.2298:0.1298	.	.	.	.	.	-1	.	.	.	-	.	.	SH2D2A	155045907	0.003000	0.15002	0.006000	0.13384	0.248000	0.25809	1.404000	0.34623	0.878000	0.35920	0.555000	0.69702	.		0.672	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975	Intron	T	156779283	C	T	156779283	5	4	47	1	0	0	0	0	0	0	1	0	14235	811	28	2	463	2	SH2D2A	1	156779283	Splice_Site	SNP	C	TCGA-09-1670-01A-01W-0633-09	81741841	156779283	92471338	3	2239											
ELF3	1999	genome.wustl.edu	37	1	201984365	201984376	+	In_Frame_Del	DEL	CGGGTGGATGGC	CGGGTGGATGGC	-	rs377240972|rs568626371		TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	CGGGTGGATGGC	CGGGTGGATGGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:201984365_201984376delCGGGTGGATGGC	ENST00000359651.3	+	8	4222_4233	c.1030_1041delCGGGTGGATGGC	c.(1030-1041)cgggtggatggcdel	p.RVDG344del	ELF3_ENST00000367284.5_In_Frame_Del_p.RVDG344del|ELF3_ENST00000367283.3_In_Frame_Del_p.RVDG344del|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATCCTGGAACGGGTGGATGGCCGGCGACTCG	0.575																																																0			1																																								200250999	SO:0001651	inframe_deletion	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1030_1041delCGGGTGGATGGC	1.37:g.201984365_201984376delCGGGTGGATGGC	ENSP00000352673:p.Arg344_Gly347del		200250988		In_Frame_Del	DEL	ENST00000359651.3	37	CCDS1419.1																																																																																				0.575	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		-	201984376	CGGGTGGATGGC	-	201984365	7	5	47	1	0	1	0	1	0	0	0	0	5055	527	19	0	1060	0	ELF3	1	201984365	In_Frame_Del	DEL	CGGGTGGATGGC	TCGA-09-1670-01A-01W-0633-09	45205082	201984365	47266256	4	2240											
PIK3C2B	5287	genome.wustl.edu	37	1	204402976	204402976	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:204402976T>C	ENST00000367187.3	-	26	4344	c.3788A>G	c.(3787-3789)cAa>cGa	p.Q1263R	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Q1235R|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1263	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTGTAGGCTTGGCAGCAAAG	0.532																																																0			1											164	148	154					1																	204402976		2203	4300	6503	202669599	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3788A>G	1.37:g.204402976T>C	ENSP00000356155:p.Gln1263Arg		202669599	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488813	0.44249	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.75938	-0.98;-0.98	5.89	3.52	0.40303	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.122077	0.56097	D	0.000040	T	0.62841	0.2461	N	0.21240	0.645	0.30935	N	0.726475	B;P	0.43231	0.104;0.801	B;P	0.45829	0.09;0.494	T	0.61242	-0.7102	10	0.27785	T	0.31	.	9.0506	0.36374	0.1246:0.0:0.1309:0.7446	.	1235;1263	F5GWN5;O00750	.;P3C2B_HUMAN	R	1263;41;1235	ENSP00000356155:Q1263R;ENSP00000400561:Q1235R	ENSP00000356155:Q1263R	Q	-	2	0	PIK3C2B	202669599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.950000	0.87804	0.449000	0.26747	-0.313000	0.08912	CAA		0.532	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		C	204402976	T	C	204402976	3	2	47	1	0	0	0	0	1	0	0	0	11910	1812	63	4	1152	4	PIK3C2B	1	204402976	Missense_Mutation	SNP	T	TCGA-09-1670-01A-01W-0633-09	2418611	204402976	44847645	5	2241											
OR2T6	254879	genome.wustl.edu	37	1	248551111	248551111	+	Missense_Mutation	SNP	G	G	A	rs182818153		TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:248551111G>A	ENST00000355728.2	+	1	202	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACCTCTCCGTCATTGACAC	0.498																																																0			1											207	160	176					1																	248551111		2203	4300	6503	246617734	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.202G>A	1.37:g.248551111G>A	ENSP00000347965:p.Val68Ile		246617734	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.609	-0.825809	0.02734	.	.	ENSG00000198104	ENST00000355728	T	0.00551	6.65	4.38	-8.75	0.00834	GPCR, rhodopsin-like superfamily (1);	0.807607	0.10778	N	0.635167	T	0.00300	0.0009	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42816	-0.9429	10	0.38643	T	0.18	.	7.4264	0.27102	0.0849:0.4788:0.2599:0.1764	.	68	Q8NHC8	OR2T6_HUMAN	I	68	ENSP00000347965:V68I	ENSP00000347965:V68I	V	+	1	0	OR2T6	246617734	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.413000	0.02473	-3.461000	0.00159	-2.248000	0.00284	GTC		0.498	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		A	248551111	G	A	248551111	3	1	47	1	0	0	0	0	1	0	0	0	11029	1145	40	1	204	1	OR2T6	1	248551111	Missense_Mutation	SNP	G	TCGA-09-1670-01A-01W-0633-09	44148135	248551111	699510	6	2242											
BIRC6	57448	genome.wustl.edu	37	2	32640332	32640332	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr2:32640332A>T	ENST00000421745.2	+	10	2107	c.1973A>T	c.(1972-1974)cAt>cTt	p.H658L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	658					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAAAGTTTGCATGATGATGGT	0.373																																					Pancreas(94;175 1509 16028 18060 45422)											0			2											79	77	78					2																	32640332		2203	4300	6503	32493836	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1973A>T	2.37:g.32640332A>T	ENSP00000393596:p.His658Leu		32493836	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244543	0.59103	.	.	ENSG00000115760	ENST00000421745	T	0.78364	-1.17	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	N	0.24115	0.695	0.58432	D	0.999998	P	0.47409	0.895	B	0.41236	0.351	T	0.71523	-0.4567	10	0.46703	T	0.11	.	16.0048	0.80354	1.0:0.0:0.0:0.0	.	658	Q9NR09	BIRC6_HUMAN	L	658	ENSP00000393596:H658L	ENSP00000393596:H658L	H	+	2	0	BIRC6	32493836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.980000	0.76160	2.237000	0.73441	0.528000	0.53228	CAT		0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32640332	A	T	32640332	3	4	47	1	0	0	0	0	1	0	0	0	1438	217	8	5	2011	5	BIRC6	2	32640332	Missense_Mutation	SNP	A	TCGA-09-1670-01A-01W-0633-09		32640332	210559041	7	2243											
SPTBN1	6711	genome.wustl.edu	37	2	54857096	54857096	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr2:54857096C>T	ENST00000356805.4	+	15	3018	c.2737C>T	c.(2737-2739)Cgc>Tgc	p.R913C	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R900C	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	913					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCAGATTGCACGCCAGCTGAT	0.542																																																0			2											78	71	73					2																	54857096		2203	4300	6503	54710600	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2737C>T	2.37:g.54857096C>T	ENSP00000349259:p.Arg913Cys		54710600	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533313	0.64972	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.36340	1.27;1.26	5.78	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	L	0.60455	1.87	0.58432	D	0.999997	D;D	0.71674	0.989;0.998	P;D	0.64877	0.827;0.93	T	0.59429	-0.7456	10	0.87932	D	0	.	14.6332	0.68671	0.4074:0.5925:0.0:0.0	.	900;913	Q01082-3;Q01082	.;SPTB2_HUMAN	C	913;900	ENSP00000349259:R913C;ENSP00000334156:R900C	ENSP00000334156:R900C	R	+	1	0	SPTBN1	54710600	0.122000	0.22280	0.911000	0.35937	0.996000	0.88848	0.639000	0.24690	1.411000	0.46957	0.655000	0.94253	CGC		0.542	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54857096	C	T	54857096	3	4	47	1	0	0	0	0	1	0	0	0	15121	536	19	1	2904	1	SPTBN1	2	54857096	Missense_Mutation	SNP	C	TCGA-09-1670-01A-01W-0633-09	22216764	54857096	188342277	8	2244											
IDH1	3417	genome.wustl.edu	37	2	209116263	209116263	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr2:209116263T>C	ENST00000415913.1	-	3	394	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	IDH1_ENST00000446179.1_Missense_Mutation_p.I5V|IDH1_ENST00000345146.2_Missense_Mutation_p.I5V	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	5					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CCGCCACTGATTTTTTTGGAC	0.318			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	0			2											45	51	49					2																	209116263		2197	4297	6494	208824508	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.13A>G	2.37:g.209116263T>C	ENSP00000390265:p.Ile5Val		208824508	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	T	9.811	1.183273	0.21870	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282;ENST00000417583;ENST00000451391	T;T;T;D	0.83335	-1.11;-1.11;-1.11;-1.71	5.48	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	L	0.58354	1.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74899	-0.3507	10	0.62326	D	0.03	-6.1322	11.0263	0.47746	0.0:0.0728:0.0:0.9272	.	5	O75874	IDHC_HUMAN	V	5	ENSP00000260985:I5V;ENSP00000410513:I5V;ENSP00000390265:I5V;ENSP00000391075:I5V	ENSP00000260985:I5V	I	-	1	0	IDH1	208824508	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.561000	0.82288	0.922000	0.37019	0.528000	0.53228	ATC		0.318	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			C	209116263	T	C	209116263	3	2	47	1	0	0	0	0	1	0	0	0	7494	1493	52	4	1263	4	IDH1	2	209116263	Missense_Mutation	SNP	T	TCGA-09-1670-01A-01W-0633-09	154259167	209116263	34083110	9	2245											
CXCR1	3577	genome.wustl.edu	37	2	219029137	219029137	+	Silent	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr2:219029137G>A	ENST00000295683.2	-	2	918	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	266					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	TCCTCATGAGGGTGTCTGCCA	0.592																																																0			2											88	82	84					2																	219029137		2203	4300	6503	218737382	SO:0001819	synonymous_variant	3577			U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.798C>T	2.37:g.219029137G>A			218737382	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	ENST00000295683.2	37	CCDS2409.1																																																																																				0.592	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		A	219029137	G	A	219029137	2	1	47	1	0	0	0	0	0	0	0	1	4090	1219	43	2		2	CXCR1	2	219029137	Silent	SNP	G	TCGA-09-1670-01A-01W-0633-09	9912874	219029137	24170236	10	2246											
SEMA5B	54437	genome.wustl.edu	37	3	122634453	122634453	+	Silent	SNP	G	G	T	rs570697826	byFrequency	TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr3:122634453G>T	ENST00000357599.3	-	14	2208	c.1822C>A	c.(1822-1824)Cgg>Agg	p.R608R	SEMA5B_ENST00000451055.2_Silent_p.R662R|SEMA5B_ENST00000195173.4_Silent_p.R608R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	608					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCCCCATCCCGTGTCACATTC	0.552																																																0			3											58	57	58					3																	122634453		2203	4300	6503	124117143	SO:0001819	synonymous_variant	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1822C>A	3.37:g.122634453G>T			124117143	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	CCDS35491.1																																																																																				0.552	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122634453	G	T	122634453	2	4	47	1	0	0	0	0	0	0	0	1	14041	1144	40	3		3	SEMA5B	3	122634453	Silent	SNP	G	TCGA-09-1670-01A-01W-0633-09		122634453	75387977	11	2247											
ADCY2	108	genome.wustl.edu	37	5	7727290	7727290	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr5:7727290C>A	ENST00000338316.4	+	14	1876	c.1787C>A	c.(1786-1788)gCa>gAa	p.A596E	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.A416E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	596					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGGGCCACGGCACTGCCAGCG	0.502																																																0			5											174	152	159					5																	7727290		2203	4300	6503	7780290	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1787C>A	5.37:g.7727290C>A	ENSP00000342952:p.Ala596Glu		7780290	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490325	0.44249	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.77229	-1.08;-1.08	5.21	5.21	0.72293	.	0.105782	0.64402	D	0.000005	T	0.64853	0.2636	N	0.08118	0	0.44995	D	0.998011	B;B	0.31859	0.343;0.001	B;B	0.43155	0.41;0.009	T	0.61202	-0.7110	10	0.05620	T	0.96	.	15.7101	0.77620	0.0:1.0:0.0:0.0	.	416;596	B7Z2C1;Q08462	.;ADCY2_HUMAN	E	596;429;416	ENSP00000342952:A596E;ENSP00000444803:A416E	ENSP00000342952:A596E	A	+	2	0	ADCY2	7780290	0.998000	0.40836	0.693000	0.30195	0.782000	0.44232	4.188000	0.58351	2.433000	0.82419	0.650000	0.86243	GCA		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7727290	C	A	7727290	3	1	47	1	0	0	0	0	1	0	0	0	294	710	25	3	1841	3	ADCY2	5	7727290	Missense_Mutation	SNP	C	TCGA-09-1670-01A-01W-0633-09		7727290	173187970	12	2248											
PDZD2	23037	genome.wustl.edu	37	5	32087829	32087829	+	Silent	SNP	G	G	A	rs145909412	byFrequency	TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr5:32087829G>A	ENST00000438447.1	+	20	4663	c.4275G>A	c.(4273-4275)acG>acA	p.T1425T	PDZD2_ENST00000282493.3_Silent_p.T1425T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1425			T -> M (in dbSNP:rs36097367).		cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				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						GCCCTGTGACGGACATTGACA	0.607													G|||	2	0.000399361	0	0.0029	5008	,	,		18368	0		0	False		,,,				2504	0															0			5						G		2,4404	4.2+/-10.8	0,2,2201	39	41	40		4275	-8	0.5	5	dbSNP_134	40	15,8585	9.1+/-34.3	0,15,4285	no	coding-synonymous	PDZD2	NM_178140.2		0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307		1425/2840	32087829	17,12989	2203	4300	6503	32123586	SO:0001819	synonymous_variant	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.4275G>A	5.37:g.32087829G>A			32123586	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																				0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32087829	G	A	32087829	2	1	47	1	0	0	0	0	0	0	0	1	11701	1103	39	1		1	PDZD2	5	32087829	Silent	SNP	G	TCGA-09-1670-01A-01W-0633-09	24360539	32087829	148827431	13	2249											
GRIK2	2898	genome.wustl.edu	37	6	101847184	101847184	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr6:101847184C>G	ENST00000421544.1	+	1	521	c.31C>G	c.(31-33)Cca>Gca	p.P11A	GRIK2_ENST00000358361.3_Missense_Mutation_p.P11A|GRIK2_ENST00000369137.3_Missense_Mutation_p.P11A|GRIK2_ENST00000318991.6_Missense_Mutation_p.P11A|GRIK2_ENST00000369138.1_Missense_Mutation_p.P11A|GRIK2_ENST00000413795.1_Missense_Mutation_p.P11A	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	11					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCTAAGTAATCCAGTCTTCAG	0.478																																																0			6											165	149	154					6																	101847184		2203	4300	6503	101953905	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.31C>G	6.37:g.101847184C>G	ENSP00000397026:p.Pro11Ala		101953905	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	0.618	-0.822128	0.02755	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289	T;T;T;T;T;T	0.21932	2.9;2.84;2.79;1.98;3.08;2.84	5.02	5.02	0.67125	.	0.341850	0.25344	N	0.031353	T	0.03915	0.0110	N	0.08118	0	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.003	B;B;B	0.09377	0.0;0.004;0.002	T	0.35968	-0.9767	10	0.14656	T	0.56	.	10.5223	0.44927	0.0:0.8502:0.0:0.1498	.	11;11;11	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	A	11	ENSP00000397026:P11A;ENSP00000405596:P11A;ENSP00000358134:P11A;ENSP00000351128:P11A;ENSP00000358133:P11A;ENSP00000313276:P11A	ENSP00000313276:P11A	P	+	1	0	GRIK2	101953905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.194000	0.51005	2.767000	0.95098	0.655000	0.94253	CCA		0.478	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			G	101847184	C	G	101847184	3	3	47	1	0	0	0	0	1	0	0	0	6774	855	30	3	33	3	GRIK2	6	101847184	Missense_Mutation	SNP	C	TCGA-09-1670-01A-01W-0633-09		101847184	69267883	14	2250											
MTMR7	9108	genome.wustl.edu	37	8	17159773	17159773	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr8:17159773A>T	ENST00000180173.5	-	13	1544	c.1510T>A	c.(1510-1512)Tat>Aat	p.Y504N	MTMR7_ENST00000521857.1_Missense_Mutation_p.Y504N|MTMR7_ENST00000398099.3_Missense_Mutation_p.Y95N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	504	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AAGCGGTTATACATTCCACTC	0.448																																																0			8											117	105	109					8																	17159773		2203	4300	6503	17204144	SO:0001583	missense	9108			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1510T>A	8.37:g.17159773A>T	ENSP00000180173:p.Tyr504Asn		17204144	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678270	0.88542	.	.	ENSG00000003987	ENST00000180173;ENST00000398099;ENST00000521857	D;D;D	0.91631	-2.88;-2.88;-2.88	5.59	5.59	0.84812	Myotubularin phosphatase domain (1);	0.056924	0.64402	D	0.000001	D	0.96747	0.8938	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.97541	1.0086	10	0.87932	D	0	.	16.0849	0.81038	1.0:0.0:0.0:0.0	.	504;504	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	N	504;95;504	ENSP00000180173:Y504N;ENSP00000381171:Y95N;ENSP00000429733:Y504N	ENSP00000180173:Y504N	Y	-	1	0	MTMR7	17204144	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.267000	0.75376	0.383000	0.25322	TAT		0.448	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		T	17159773	A	T	17159773	3	4	47	1	0	0	0	0	1	0	0	0	9948	391	14	5	480	5	MTMR7	8	17159773	Missense_Mutation	SNP	A	TCGA-09-1670-01A-01W-0633-09		17159773	129204249	15	2251											
SORCS1	114815	genome.wustl.edu	37	10	108589395	108589395	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr10:108589395A>C	ENST00000263054.6	-	3	670	c.663T>G	c.(661-663)aaT>aaG	p.N221K	SORCS1_ENST00000344440.6_Missense_Mutation_p.N221K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	221					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAACTTTATCATTCAGCTTCT	0.363																																																0			10											171	155	160					10																	108589395		2203	4300	6503	108579385	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.663T>G	10.37:g.108589395A>C	ENSP00000263054:p.Asn221Lys		108579385	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951591	0.73787	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.32023	1.47;1.47	5.45	5.45	0.79879	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.43152	1.355	0.43275	D	0.995233	D;D;D;D;D	0.58970	0.973;0.984;0.984;0.973;0.984	P;P;P;P;P	0.59703	0.663;0.862;0.862;0.731;0.862	T	0.12682	-1.0538	9	.	.	.	-20.8025	10.2117	0.43145	0.9259:0.0:0.0741:0.0	.	221;221;221;221;221	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	221	ENSP00000263054:N221K;ENSP00000345964:N221K	.	N	-	3	2	SORCS1	108579385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.769000	0.47654	2.201000	0.70794	0.533000	0.62120	AAT		0.363	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		C	108589395	A	C	108589395	3	2	47	1	0	0	0	0	1	0	0	0	14933	214	8	5	3173	5	SORCS1	10	108589395	Missense_Mutation	SNP	A	TCGA-09-1670-01A-01W-0633-09		108589395	26945352	16	2252											
IGSF9B	22997	genome.wustl.edu	37	11	133791091	133791091	+	Silent	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr11:133791091G>A	ENST00000321016.8	-	18	2759	c.2529C>T	c.(2527-2529)gcC>gcT	p.A843A	IGSF9B_ENST00000533871.2_Silent_p.A843A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	843					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGGGCGTGGTGGCCTCTGCCT	0.647																																																0			11											68	74	72					11																	133791091		2164	4254	6418	133296301	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2529C>T	11.37:g.133791091G>A			133296301	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.647	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		A	133791091	G	A	133791091	2	1	47	1	0	0	0	0	0	0	0	1	7606	1335	47	2		2	IGSF9B	11	133791091	Silent	SNP	G	TCGA-09-1670-01A-01W-0633-09		133791091	1215425	17	2253											
DHRS7	51635	genome.wustl.edu	37	14	60619865	60619865	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr14:60619865G>A	ENST00000216500.5	-	5	880	c.425C>T	c.(424-426)tCc>tTc	p.S142F	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Missense_Mutation_p.S142F|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.S92F			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	142						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		AGAACGCTGGGACATTCCACC	0.428																																																0			14											106	94	98					14																	60619865		2203	4300	6503	59689618	SO:0001583	missense	51635			AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	21524	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 4", "short chain dehydrogenase/reductase family 34C, member 1"	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.425C>T	14.37:g.60619865G>A	ENSP00000216500:p.Ser142Phe		59689618	B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	CCDS9743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.76|13.76	2.333180|2.333180	0.41297|0.41297	.|.	.|.	ENSG00000100612|ENSG00000100612	ENST00000557751;ENST00000554101|ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410	.|D;D;D	.|0.87809	.|-2.3;-2.3;-2.3	5.95|5.95	0.319|0.319	0.15873|0.15873	.|NAD(P)-binding domain (1);	.|1.026110	.|0.07688	.|N	.|0.938206	D|D	0.92459|0.92459	0.7606|0.7606	L|L	0.55017|0.55017	1.72|1.72	0.18873|0.18873	N|N	0.999984|0.999984	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.73380	.|0.98;0.978	D|D	0.85900|0.85900	0.1434|0.1434	5|10	.|0.66056	.|D	.|0.02	.|.	19.8376|19.8376	0.96663|0.96663	0.0:0.5311:0.4689:0.0|0.0:0.5311:0.4689:0.0	.|.	.|142;142	.|F8W9Q4;Q9Y394	.|.;DHRS7_HUMAN	S|F	10;137|142;142;142;92	.|ENSP00000216500:S142F;ENSP00000451882:S142F;ENSP00000442993:S92F	.|ENSP00000216500:S142F	P|S	-|-	1|2	0|0	DHRS7|DHRS7	59689618|59689618	0.533000|0.533000	0.26354|0.26354	0.005000|0.005000	0.12908|0.12908	0.333000|0.333000	0.28666|0.28666	0.978000|0.978000	0.29488|0.29488	0.370000|0.370000	0.24538|0.24538	0.563000|0.563000	0.77884|0.77884	CCC|TCC		0.428	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		A	60619865	G	A	60619865	3	1	47	1	0	0	0	0	1	0	0	0	4495	1174	41	2	610	2	DHRS7	14	60619865	Missense_Mutation	SNP	G	TCGA-09-1670-01A-01W-0633-09		60619865	46729675	18	2254											
ARID3B	10620	genome.wustl.edu	37	15	74883703	74883703	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr15:74883703C>T	ENST00000346246.5	+	6	1324	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	365	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CTTTCCCATCCTTGGGCTTGG	0.622																																																0			15											59	67	64					15																	74883703		2197	4295	6492	72670756	SO:0001583	missense	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1093C>T	15.37:g.74883703C>T	ENSP00000343126:p.Leu365Phe		72670756	O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277472	0.59758	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.50548	0.74	5.42	2.51	0.30379	.	0.364248	0.24323	N	0.039526	T	0.47581	0.1453	L	0.61218	1.895	0.30965	N	0.72325	D;P;P	0.56521	0.976;0.808;0.935	P;B;P	0.53689	0.462;0.261;0.732	T	0.50311	-0.8843	10	0.30854	T	0.27	-7.3792	1.9389	0.03342	0.1604:0.4026:0.2731:0.1638	.	365;365;365	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	F	365	ENSP00000343126:L365F	ENSP00000343126:L365F	L	+	1	0	ARID3B	72670756	0.978000	0.34361	0.956000	0.39512	0.997000	0.91878	0.862000	0.27899	0.665000	0.31066	0.655000	0.94253	CTT		0.622	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		T	74883703	C	T	74883703	3	4	47	1	0	0	0	0	1	0	0	0	917	681	24	2	1111	2	ARID3B	15	74883703	Missense_Mutation	SNP	C	TCGA-09-1670-01A-01W-0633-09		74883703	27647689	19	2255											
NEURL4	84461	genome.wustl.edu	37	17	7220813	7220813	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr17:7220813G>A	ENST00000399464.2	-	27	4300	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	NEURL4_ENST00000570460.1_Missense_Mutation_p.R1405W|GPS2_ENST00000380728.2_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.R1427W|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000574120.1_5'UTR|GPS2_ENST00000389167.5_5'Flank|RP11-542C16.2_ENST00000575474.1_Silent_p.Y242Y	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1429						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCACTCTCCGTACAGCGGCA	0.607																																																0			17											98	102	101					17																	7220813		2070	4209	6279	7161537	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4285C>T	17.37:g.7220813G>A	ENSP00000382390:p.Arg1429Trp		7161537	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181375	0.78677	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.39997	1.05;1.05	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.76002	2.32	0.40222	D	0.977744	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.985	T	0.70753	-0.4786	10	0.87932	D	0	-17.6933	16.8766	0.86053	0.0:0.0:1.0:0.0	.	1427;1429	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	W	1427;1429	ENSP00000319826:R1427W;ENSP00000382390:R1429W	ENSP00000319826:R1427W	R	-	1	2	NEURL4	7161537	1.000000	0.71417	0.990000	0.47175	0.768000	0.43524	2.777000	0.47717	2.499000	0.84300	0.462000	0.41574	CGG		0.607	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7220813	G	A	7220813	3	1	47	1	0	0	0	0	1	0	0	0	10347	1144	40	1	415	1	NEURL4	17	7220813	Missense_Mutation	SNP	G	TCGA-09-1670-01A-01W-0633-09		7220813	73974397	20	2256											
TP53	7157	genome.wustl.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000420246.2_Missense_Mutation_p.V272M	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(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)	CAAACACGCACCTCAAAGCTG	0.527		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"	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	17	GRCh37	CM920676	TP53	M	rs121912657						62	54	57					17																	7577124		2203	4300	6503	7517849	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met		7517849	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577124	C	T	7577124	3	4	47	1	0	0	0	0	1	0	0	0	16381	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-09-1670-01A-01W-0633-09	356311	7577124	73618086	21	2257											
NF1	4763	genome.wustl.edu	37	17	29592269	29592269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr17:29592269G>T	ENST00000358273.4	+	36	5130	c.4747G>T	c.(4747-4749)Gaa>Taa	p.E1583*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E1562*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1583	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAAAAGAAGAATTCAAGGC	0.323			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17											62	63	63					17																	29592269		2203	4298	6501	26616395	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4747G>T	17.37:g.29592269G>T	ENSP00000351015:p.Glu1583*		26616395	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	43	9.909801	0.99293	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	6.02	6.02	0.97574	.	0.053103	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	1583;1562;1228	.	ENSP00000348498:E1562X	E	+	1	0	NF1	26616395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.196000	0.94978	2.850000	0.98022	0.650000	0.86243	GAA		0.323	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29592269	G	T	29592269	4	4	47	1	0	0	0	0	0	1	0	0	10356	943	33	3	4950	3	NF1	17	29592269	Nonsense_Mutation	SNP	G	TCGA-09-1670-01A-01W-0633-09	22015145	29592269	51602941	22	2258											
ZNF627	199692	genome.wustl.edu	37	19	11728201	11728201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr19:11728201C>T	ENST00000361113.5	+	4	1091	c.883C>T	c.(883-885)Cga>Tga	p.R295*	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CAGTTCTGTTCGAAGTCACGA	0.443																																					Melanoma(112;173 1614 10731 17751 23322)											0			19											55	59	58					19																	11728201		2197	4297	6494	11589201	SO:0001587	stop_gained	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.883C>T	19.37:g.11728201C>T	ENSP00000354414:p.Arg295*		11589201	O14846|Q4KMP9|Q6NT81|Q9BRG4	Nonsense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	c	17.51	3.408712	0.62399	.	.	ENSG00000198551	ENST00000361113	.	.	.	1.5	0.355	0.16069	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4579	0.27276	0.0:0.7272:0.2728:0.0	.	.	.	.	X	295	.	ENSP00000354414:R295X	R	+	1	2	ZNF627	11589201	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.316000	0.08071	0.191000	0.20236	-0.499000	0.04595	CGA		0.443	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		T	11728201	C	T	11728201	4	4	47	1	0	0	0	0	0	1	0	0	18051	876	31	1	897	1	ZNF627	19	11728201	Nonsense_Mutation	SNP	C	TCGA-09-1670-01A-01W-0633-09		11728201	47400782	23	2259											
ZNF536	9745	genome.wustl.edu	37	19	31038892	31038892	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr19:31038892C>T	ENST00000355537.3	+	4	2513	c.2366C>T	c.(2365-2367)aCg>aTg	p.T789M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	789					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.T789M(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TATGCCGGCACGCAGTCAGCA	0.502																																																1	Substitution - Missense(1)	NS(1)	19											66	70	69					19																	31038892		2203	4300	6503	35730732	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2366C>T	19.37:g.31038892C>T	ENSP00000347730:p.Thr789Met		35730732	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749075	0.69533	.	.	ENSG00000198597	ENST00000355537	T	0.07444	3.19	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	L	0.47016	1.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00026	-1.2310	10	0.66056	D	0.02	-44.8988	20.6721	0.99693	0.0:1.0:0.0:0.0	.	789;789	A7E228;O15090	.;ZN536_HUMAN	M	789	ENSP00000347730:T789M	ENSP00000347730:T789M	T	+	2	0	ZNF536	35730732	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.481000	0.81124	2.894000	0.99253	0.591000	0.81541	ACG		0.502	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	31038892	C	T	31038892	3	4	47	1	0	0	0	0	1	0	0	0	17974	536	19	1	2376	1	ZNF536	19	31038892	Missense_Mutation	SNP	C	TCGA-09-1670-01A-01W-0633-09	19310691	31038892	28090091	24	2260											
DEFB125	245938	genome.wustl.edu	37	20	76821	76821	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr20:76821A>G	ENST00000382410.2	+	2	234	c.234A>G	c.(232-234)atA>atG	p.I78M	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	78					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TAGAGGATATAACATTGGATT	0.358																																																0			20											188	178	181					20																	76821		2203	4300	6503	24821	SO:0001583	missense	245938			AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"Defensins, beta"	18105	protein-coding gene	gene with protein product	"beta defensin 25"					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.234A>G	20.37:g.76821A>G	ENSP00000371847:p.Ile78Met		24821	A1A502|Q7Z7B9	Missense_Mutation	SNP	ENST00000382410.2	37	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	9.903	1.207440	0.22205	.	.	ENSG00000178591	ENST00000382410	T	0.10763	2.84	3.49	-0.081	0.13704	.	1.887730	0.03245	N	0.181051	T	0.06234	0.0161	N	0.19112	0.55	0.09310	N	1	P	0.38827	0.649	B	0.33042	0.157	T	0.20338	-1.0278	10	0.62326	D	0.03	-0.7919	0.5421	0.00647	0.3947:0.2698:0.1347:0.2008	.	78	Q8N687	DB125_HUMAN	M	78	ENSP00000371847:I78M	ENSP00000371847:I78M	I	+	3	3	DEFB125	24821	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.240000	0.08952	-0.038000	0.13624	0.533000	0.62120	ATA		0.358	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325		G	76821	A	G	76821	3	3	47	1	0	0	0	0	1	0	0	0	4411	352	13	4	240	4	DEFB125	20	76821	Missense_Mutation	SNP	A	TCGA-09-1670-01A-01W-0633-09		76821	62948699	25	2261											
CHD6	84181	genome.wustl.edu	37	20	40111972	40111972	+	Silent	SNP	T	T	C			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr20:40111972T>C	ENST00000373233.3	-	16	2622	c.2445A>G	c.(2443-2445)ctA>ctG	p.L815L	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	815	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGTAATCTTCTAGGATGTCGA	0.433																																																0			20											89	81	84					20																	40111972		2203	4300	6503	39545386	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2445A>G	20.37:g.40111972T>C			39545386	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.433	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			C	40111972	T	C	40111972	2	2	47	1	0	0	0	0	0	0	0	1	3329	1509	53	4		4	CHD6	20	40111972	Silent	SNP	T	TCGA-09-1670-01A-01W-0633-09	40035151	40111972	22913548	26	2262											
PTPRT	11122	genome.wustl.edu	37	20	40877326	40877326	+	Splice_Site	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr20:40877326C>T	ENST00000373187.1	-	14	2312		c.e14+1		PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site|PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000373198.4_Splice_Site			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGAGACTCACCTCCTTTTGA	0.547																																																0			20											93	98	96					20																	40877326		2184	4278	6462	40310740	SO:0001630	splice_region_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2312+1G>A	20.37:g.40877326C>T			40310740	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Splice_Site	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729149	0.89390	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	6.02	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3994	0.74827	0.0:0.9335:0.0:0.0665	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRT	40310740	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.458000	0.80787	1.563000	0.49615	0.549000	0.68633	.		0.547	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		Intron	T	40877326	C	T	40877326	5	4	47	1	0	0	0	0	0	0	1	0	12815	521	18	2	2084	2	PTPRT	20	40877326	Splice_Site	SNP	C	TCGA-09-1670-01A-01W-0633-09	765354	40877326	22148194	27	2263											
GABPA	2551	genome.wustl.edu	37	21	27141407	27141407	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr21:27141407G>A	ENST00000354828.3	+	10	1756	c.1229G>A	c.(1228-1230)aGt>aAt	p.S410N	GABPA_ENST00000400075.3_Missense_Mutation_p.S410N	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	410					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|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 positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ATTGGATACAGTGCAGCGGAG	0.423																																																0			21											94	97	96					21																	27141407		2203	4300	6503	26063278	SO:0001583	missense	2551				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"human nuclear respiratory factor-2 subunit alpha", "nuclear respiratory factor 2 alpha subunit"	600609	"GA-binding protein transcription factor, alpha subunit (60kD)"			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1229G>A	21.37:g.27141407G>A	ENSP00000346886:p.Ser410Asn		26063278	Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267098	0.40095	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.13778	2.56;2.56	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.091827	0.85682	D	0.000000	T	0.12263	0.0298	N	0.20986	0.625	0.80722	D	1	B	0.22146	0.065	B	0.12156	0.007	T	0.09729	-1.0661	10	0.36615	T	0.2	.	19.5484	0.95308	0.0:0.0:1.0:0.0	.	410	Q06546	GABPA_HUMAN	N	410	ENSP00000346886:S410N;ENSP00000382948:S410N	ENSP00000346886:S410N	S	+	2	0	GABPA	26063278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.577000	0.82486	2.725000	0.93324	0.585000	0.79938	AGT		0.423	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		A	27141407	G	A	27141407	3	1	47	1	0	0	0	0	1	0	0	0	6157	1029	36	2	1263	2	GABPA	21	27141407	Missense_Mutation	SNP	G	TCGA-09-1670-01A-01W-0633-09		27141407	20988488	28	2264											
DGKK	139189	genome.wustl.edu	37	X	50213385	50213385	+	RNA	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chrX:50213385G>A	ENST00000376025.2	-	0	352							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					cggctctgtggcaggttctgg	0.652																																																0			X											65	80	75					X																	50213385		1820	4058	5878	50230125			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213385G>A			50230125	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.652	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		A	50213385	G	A	50213385	1	1	47	0	1	0	0	0	0	0	0	0	4472	1203	42	2		2	DGKK	23	50213385	RNA	SNP	G	TCGA-09-1670-01A-01W-0633-09		50213385	105057175	29	2265											
HTR6	3362	genome.wustl.edu	37	1	20005106	20005106	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr1:20005106G>A	ENST00000289753.1	+	2	1228	c.761G>A	c.(760-762)cGt>cAt	p.R254H		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	254					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GACAGCAGGCGTCTAGCCACG	0.632																																					Esophageal Squamous(168;1879 2619 6848 21062)											0			1											68	62	64					1																	20005106		2203	4300	6503	19877693	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.761G>A	1.37:g.20005106G>A	ENSP00000289753:p.Arg254His		19877693	Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.567875	0.65651	.	.	ENSG00000158748	ENST00000289753	T	0.39229	1.09	5.36	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.833064	0.10764	N	0.636775	T	0.53514	0.1801	L	0.46819	1.47	0.24421	N	0.994613	D	0.76494	0.999	D	0.64506	0.926	T	0.36915	-0.9728	9	.	.	.	.	8.8172	0.35002	0.08:0.1524:0.7676:0.0	.	254	P50406	5HT6R_HUMAN	H	254	ENSP00000289753:R254H	.	R	+	2	0	HTR6	19877693	1.000000	0.71417	0.994000	0.49952	0.499000	0.33736	4.022000	0.57203	1.383000	0.46405	0.655000	0.94253	CGT		0.632	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		A	20005106	G	A	20005106	3	1	48	1	0	0	0	0	1	0	0	0	7451	1145	40	1	767	1	HTR6	1	20005106	Missense_Mutation	SNP	G	TCGA-09-1672-01A-01W-0633-09		20005106	229245515	1	2266											
FLG2	388698	genome.wustl.edu	37	1	152323741	152323741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr1:152323741delC	ENST00000388718.5	-	3	6593	c.6521delG	c.(6520-6522)ggafs	p.G2174fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2174					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTTGTCTTCCAGTTGTCCT	0.522																																																0			1											357	313	328					1																	152323741		2203	4300	6503	150590365	SO:0001589	frameshift_variant	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6521delG	1.37:g.152323741delC	ENSP00000373370:p.Gly2174fs		150590365	Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	CCDS30861.1																																																																																				0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		-	152323741	C	-	152323741	7	5	48	1	0	1	0	1	0	0	0	0	5923	855	30	0	658	0	FLG2	1	152323741	Frame_Shift_Del	DEL	C	TCGA-09-1672-01A-01W-0633-09	132318635	152323741	96926880	2	2267											
SRGAP2	23380	genome.wustl.edu	37	1	206613361	206613361	+	Missense_Mutation	SNP	C	C	T	rs369067812		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr1:206613361C>T	ENST00000414007.1	+	13	1384	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	602	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCTGCACATCCGGAAAGTCCT	0.483																																																0			1						C	TRP/ARG,TRP/ARG,TRP/ARG	2,3972		0,2,1985	140	140	140		1547,1544,1547	5.6	1	1		140	0,8354		0,0,4177	no	missense,missense,missense	SRGAP2	NM_001042758.1,NM_001170637.1,NM_015326.2	101,101,101	0,2,6162	TT,TC,CC		0.0,0.0503,0.0162	probably-damaging,probably-damaging,probably-damaging	602/837,601/1071,602/1072	206613361	2,12326	1987	4177	6164	204679984	SO:0001583	missense	23380			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1384C>T	1.37:g.206613361C>T	ENSP00000390898:p.Arg462Trp		204679984		Missense_Mutation	SNP	ENST00000414007.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.412632|4.412632	0.83340|0.83340	5.03E-4|5.03E-4	0.0|0.0	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000414359;ENST00000414007;ENST00000439126	.|T;T	.|0.21031	.|2.03;2.03	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.057418	.|0.64402	.|D	.|0.000002	T|T	0.47637|0.47637	0.1456|0.1456	.|.	.|.	.|.	.|.	.|.	.|.	.|D;D	.|0.89917	.|1.0;0.996	.|D;D	.|0.72625	.|0.957;0.978	T|T	0.51576|0.51576	-0.8688|-0.8688	3|8	.|0.87932	.|D	.|0	.|.	16.281|16.281	0.82687|0.82687	0.1329:0.867:0.0:0.0|0.1329:0.867:0.0:0.0	.|.	.|449;602	.|B4DDU0;O75044	.|.;FNBP2_HUMAN	L|W	515|515;462;216	.|ENSP00000390898:R462W;ENSP00000403036:R216W	.|ENSP00000390898:R462W	P|R	+|+	2|1	0|2	SRGAP2|SRGAP2	204679984|204679984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.356000|3.356000	0.52269|0.52269	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.483	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		T	206613361	C	T	206613361	3	4	48	1	0	0	0	0	1	0	0	0	15148	643	23	1	1598	1	SRGAP2	1	206613361	Missense_Mutation	SNP	C	TCGA-09-1672-01A-01W-0633-09	54289620	206613361	42637260	3	2268											
MARCH4	57574	genome.wustl.edu	37	2	217142512	217142512	+	Missense_Mutation	SNP	C	C	T	rs367784136		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr2:217142512C>T	ENST00000273067.4	-	3	2514	c.748G>A	c.(748-750)Gcc>Acc	p.A250T		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	250						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A250S(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAATACTGGCGATGAGGAAG	0.557																																																1	Substitution - Missense(1)	lung(1)	2						C	THR/ALA	0,4406		0,0,2203	108	94	99		748	5.2	1	2		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	MARCH4	NM_020814.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	250/411	217142512	1,13005	2203	4300	6503	216850757	SO:0001583	missense	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.748G>A	2.37:g.217142512C>T	ENSP00000273067:p.Ala250Thr		216850757	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273261	0.95429	0.0	1.16E-4	ENSG00000144583	ENST00000273067	T	0.59224	0.28	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71764	-0.4494	10	0.28530	T	0.3	-1.2002	17.829	0.88674	0.0:1.0:0.0:0.0	.	250	Q9P2E8	MARH4_HUMAN	T	250	ENSP00000273067:A250T	ENSP00000273067:A250T	A	-	1	0	MARCH4	216850757	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.465000	0.83290	0.655000	0.94253	GCC		0.557	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		T	217142512	C	T	217142512	3	4	48	1	0	0	0	0	1	0	0	0	9303	768	27	1	492	1	MARCH4	2	217142512	Missense_Mutation	SNP	C	TCGA-09-1672-01A-01W-0633-09		217142512	26056861	4	2269											
ZNF142	7701	genome.wustl.edu	37	2	219506971	219506971	+	Missense_Mutation	SNP	G	G	A	rs374493212		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr2:219506971G>A	ENST00000449707.1	-	8	4689	c.4268C>T	c.(4267-4269)cCg>cTg	p.P1423L	ZNF142_ENST00000411696.2_Missense_Mutation_p.P1423L	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCAGTGTAGCGGGGGCTGGCC	0.597																																					Colon(170;867 1942 8995 15834 18053)											0			2							LEU/PRO	0,4152		0,0,2076	82	93	89		4268	3.8	0.5	2		89	1,8419		0,1,4209	no	missense	ZNF142	NM_001105537.1	98	0,1,6285	AA,AG,GG		0.0119,0.0,0.0080	benign	1423/1688	219506971	1,12571	2076	4210	6286	219215215	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4268C>T	2.37:g.219506971G>A	ENSP00000408643:p.Pro1423Leu		219215215	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.725287	0.30593	0.0	1.19E-4	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.01745	4.66;4.66	5.62	3.84	0.44239	.	0.447307	0.27961	N	0.017145	T	0.02230	0.0069	L	0.42686	1.345	0.41976	D	0.990775	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.49899	-0.8890	10	0.62326	D	0.03	-1.4594	9.706	0.40216	0.2091:0.0:0.7909:0.0	.	1423;1260	P52746;A8MWU9	ZN142_HUMAN;.	L	1423	ENSP00000408643:P1423L;ENSP00000398798:P1423L	ENSP00000398798:P1423L	P	-	2	0	ZNF142	219215215	1.000000	0.71417	0.515000	0.27774	0.754000	0.42855	3.688000	0.54699	0.945000	0.37605	-0.162000	0.13425	CCG		0.597	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		A	219506971	G	A	219506971	3	1	48	1	0	0	0	0	1	0	0	0	17731	1116	39	1	807	1	ZNF142	2	219506971	Missense_Mutation	SNP	G	TCGA-09-1672-01A-01W-0633-09	2364459	219506971	23692402	5	2270											
SCN5A	6331	genome.wustl.edu	37	3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T	rs199473605		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr3:38601865C>T	ENST00000333535.4	-	23	4167	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1340					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATGAGGCAGACGAGGAGGACG	0.577																																																0			3											112	106	108					3																	38601865		2203	4300	6503	38576869	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4018G>A	3.37:g.38601865C>T	ENSP00000328968:p.Val1340Ile		38576869	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994698	0.93167	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.25	4.25	0.50352	Ion transport (1);	0.133960	0.49916	D	0.000126	D	0.98865	0.9616	M	0.80616	2.505	0.54753	D	0.999989	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;P	0.87578	0.977;0.995;0.984;0.991;0.996;0.998;0.859	D	0.99758	1.1020	10	0.87932	D	0	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	1286;1339;1340;1340;1340;1339;1340	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	1340;1339;1340;1286;1339;1340;1340;1339;1286;1286	ENSP00000398962:V1340I;ENSP00000398266:V1339I;ENSP00000410257:V1340I;ENSP00000388797:V1286I;ENSP00000397915:V1339I;ENSP00000416634:V1340I;ENSP00000328968:V1340I;ENSP00000399524:V1339I;ENSP00000403355:V1286I;ENSP00000413996:V1286I	ENSP00000328968:V1340I	V	-	1	0	SCN5A	38576869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.848000	0.69458	2.355000	0.79922	0.655000	0.94253	GTC		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		T	38601865	C	T	38601865	3	4	48	1	0	0	0	0	1	0	0	0	13925	536	19	1	2056	1	SCN5A	3	38601865	Missense_Mutation	SNP	C	TCGA-09-1672-01A-01W-0633-09		38601865	159420565	6	2271											
IL17RD	54756	genome.wustl.edu	37	3	57131882	57131882	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr3:57131882C>A	ENST00000296318.7	-	12	1937	c.1849G>T	c.(1849-1851)Gac>Tac	p.D617Y	IL17RD_ENST00000463523.1_Missense_Mutation_p.D473Y|IL17RD_ENST00000427856.2_Missense_Mutation_p.D593Y|IL17RD_ENST00000320057.5_Missense_Mutation_p.D473Y	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	617					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TGCTGGGAGTCGGCTGGTCCG	0.622																																																0			3											19	22	21					3																	57131882		2202	4300	6502	57106922	SO:0001583	missense	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1849G>T	3.37:g.57131882C>A	ENSP00000296318:p.Asp617Tyr		57106922	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871532	0.72065	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.11277	2.79;2.8;2.79;2.8	5.17	3.32	0.38043	.	2.233790	0.01553	N	0.019758	T	0.30386	0.0763	L	0.53249	1.67	0.38174	D	0.939413	D;D;D	0.71674	0.998;0.997;0.998	D;P;D	0.65443	0.921;0.862;0.935	T	0.00172	-1.1958	10	0.45353	T	0.12	-0.8955	10.4912	0.44752	0.0:0.8383:0.0:0.1617	.	473;617;593	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	Y	617;473;593;473	ENSP00000296318:D617Y;ENSP00000322250:D473Y;ENSP00000399209:D593Y;ENSP00000417516:D473Y	ENSP00000296318:D617Y	D	-	1	0	IL17RD	57106922	0.958000	0.32768	0.016000	0.15963	0.117000	0.20001	1.486000	0.35530	0.546000	0.28920	0.591000	0.81541	GAC		0.622	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		A	57131882	C	A	57131882	3	1	48	1	0	0	0	0	1	0	0	0	7642	884	31	3	378	3	IL17RD	3	57131882	Missense_Mutation	SNP	C	TCGA-09-1672-01A-01W-0633-09	18530017	57131882	140890548	7	2272											
WDR49	151790	genome.wustl.edu	37	3	167223147	167223147	+	Silent	SNP	G	G	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr3:167223147G>A	ENST00000308378.3	-	13	2081	c.1776C>T	c.(1774-1776)tgC>tgT	p.C592C	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.C417C|WDR49_ENST00000453925.2_Silent_p.C557C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	592										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTTCTTTCATGCAGGTACTTC	0.254																																																0			3											47	51	50					3																	167223147		2198	4283	6481	168705841	SO:0001819	synonymous_variant	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1776C>T	3.37:g.167223147G>A			168705841	Q8N297	Silent	SNP	ENST00000308378.3	37	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.712612	0.00712	.	.	ENSG00000174776	ENST00000472600	.	.	.	4.78	-4.26	0.03755	.	.	.	.	.	T	0.26557	0.0649	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36187	-0.9758	4	.	.	.	.	6.7665	0.23571	0.2765:0.0:0.5645:0.159	.	.	.	.	V	569	.	.	A	-	2	0	WDR49	168705841	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	-0.002000	0.12924	-0.277000	0.09193	-0.290000	0.09829	GCA		0.254	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		A	167223147	G	A	167223147	2	1	48	1	0	0	0	0	0	0	0	1	17302	1311	46	2		2	WDR49	3	167223147	Silent	SNP	G	TCGA-09-1672-01A-01W-0633-09	110091265	167223147	30799283	8	2273											
PI4K2B	55300	genome.wustl.edu	37	4	25260711	25260711	+	Frame_Shift_Del	DEL	T	T	-			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr4:25260711delT	ENST00000264864.6	+	5	998	c.809delT	c.(808-810)cttfs	p.L270fs	PI4K2B_ENST00000512921.1_Frame_Shift_Del_p.L174fs	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	270	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GAATATTGGCTTAGGAAATTT	0.313																																																0			4											71	74	73					4																	25260711		2203	4298	6501	24869809	SO:0001589	frameshift_variant	55300			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.809delT	4.37:g.25260711delT	ENSP00000264864:p.Leu270fs		24869809	Q9NUW2	Frame_Shift_Del	DEL	ENST00000264864.6	37	CCDS3433.1																																																																																				0.313	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		-	25260711	T	-	25260711	7	5	48	1	0	1	0	1	0	0	0	0	11872	1609	56	0	827	0	PI4K2B	4	25260711	Frame_Shift_Del	DEL	T	TCGA-09-1672-01A-01W-0633-09		25260711	165893565	9	2274											
PCDHGB5	56102	genome.wustl.edu	37	5	140778230	140778230	+	Intron	SNP	C	C	T			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr5:140778230C>T	ENST00000576222.1	+	1	2546				PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGTTTCTCATTAATAATT	0.413																																																0			5											59	62	61					5																	140778230		1829	4081	5910	140758414	SO:0001627	intron_variant	56101			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25854C>T	5.37:g.140778230C>T			140758414	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.413	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		T	140778230	C	T	140778230	1	4	48	0	1	0	0	0	0	0	0	0	11566	838	29	2		2	PCDHGB5	5	140778230	Intron	SNP	C	TCGA-09-1672-01A-01W-0633-09		140778230	40137030	10	2275											
CLIP2	7461	genome.wustl.edu	37	7	73768318	73768318	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr7:73768318G>C	ENST00000395060.1	+	3	787	c.787G>C	c.(787-789)Gcg>Ccg	p.A263P	CLIP2_ENST00000361545.5_Missense_Mutation_p.A263P|CLIP2_ENST00000223398.6_Missense_Mutation_p.A263P			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	263	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAATGATGGGGCGGTGGCGGG	0.652																																																0			7											92	92	92					7																	73768318		2203	4300	6503	73406254	SO:0001583	missense	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.787G>C	7.37:g.73768318G>C	ENSP00000378500:p.Ala263Pro		73406254	O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985816	0.74589	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	D;D;D	0.91631	-2.88;-2.88;-2.88	5.5	5.5	0.81552	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96277	0.9203	10	0.87932	D	0	-35.3377	18.1332	0.89608	0.0:0.0:1.0:0.0	.	263;263	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	P	263	ENSP00000223398:A263P;ENSP00000355151:A263P;ENSP00000378500:A263P	ENSP00000223398:A263P	A	+	1	0	CLIP2	73406254	1.000000	0.71417	0.989000	0.46669	0.246000	0.25737	7.414000	0.80117	2.861000	0.98227	0.655000	0.94253	GCG		0.652	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		C	73768318	G	C	73768318	3	2	48	1	0	0	0	0	1	0	0	0	3533	1203	42	3	797	3	CLIP2	7	73768318	Missense_Mutation	SNP	G	TCGA-09-1672-01A-01W-0633-09		73768318	85370345	11	2276											
COL1A2	1278	genome.wustl.edu	37	7	94056948	94056948	+	Missense_Mutation	SNP	G	G	T	rs74315103		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr7:94056948G>T	ENST00000297268.6	+	49	3748	c.3277G>T	c.(3277-3279)Ggt>Tgt	p.G1093C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1093					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGCCCCCCTGGTCCCCCTGG	0.537										HNSCC(75;0.22)																																						0			7											73	82	79					7																	94056948		2203	4300	6503	93894884	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3277G>T	7.37:g.94056948G>T	ENSP00000297268:p.Gly1093Cys		93894884	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617139	0.46736	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99637	-6.29	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97577	1.0108	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	1093	P08123	CO1A2_HUMAN	C	1093;1094	ENSP00000297268:G1093C	ENSP00000297268:G1093C	G	+	1	0	COL1A2	93894884	1.000000	0.71417	0.998000	0.56505	0.012000	0.07955	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGT		0.537	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94056948	G	T	94056948	3	4	48	1	0	0	0	0	1	0	0	0	3678	1348	47	3	3471	3	COL1A2	7	94056948	Missense_Mutation	SNP	G	TCGA-09-1672-01A-01W-0633-09	20288630	94056948	65081715	12	2277											
EIF5AL1	143244	genome.wustl.edu	37	10	81272509	81272509	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr10:81272509G>T	ENST00000520547.2	+	1	153	c.104G>T	c.(103-105)gGc>gTc	p.G35V	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	35					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GTGCTCAAAGGCTGGCCATGT	0.517																																																0			10											2	3	3					10																	81272509		1044	2398	3442	80942515	SO:0001583	missense	143244				CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 5A pseudogene 1"	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.104G>T	10.37:g.81272509G>T	ENSP00000430706:p.Gly35Val		80942515		Missense_Mutation	SNP	ENST00000520547.2	37	CCDS53546.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242489	0.22796	.	.	ENSG00000253626	ENST00000520547	T	0.52983	0.64	1.31	0.236	0.15471	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	.	.	.	.	T	0.66934	0.2840	H	0.96080	3.765	0.58432	D	0.999999	D	0.63880	0.993	P	0.55303	0.773	T	0.66677	-0.5863	9	0.87932	D	0	.	5.6292	0.17501	0.2116:0.0:0.7884:0.0	.	35	Q6IS14	IF5AL_HUMAN	V	35	ENSP00000430706:G35V	ENSP00000430706:G35V	G	+	2	0	EIF5AL1	80942515	1.000000	0.71417	0.172000	0.22920	0.087000	0.18053	6.081000	0.71309	-0.133000	0.11537	0.372000	0.22366	GGC		0.517	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4	NM_001099692		T	81272509	G	T	81272509	3	4	48	1	0	0	0	0	1	0	0	0	5043	1203	42	3	106	3	EIF5AL1	10	81272509	Missense_Mutation	SNP	G	TCGA-09-1672-01A-01W-0633-09		81272509	54262238	13	2278											
IPO7	10527	genome.wustl.edu	37	11	9466732	9466732	+	Silent	SNP	G	G	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr11:9466732G>A	ENST00000379719.3	+	25	3250	c.3108G>A	c.(3106-3108)ggG>ggA	p.G1036G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1036					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAGCACCAGGGATGAATTGAG	0.413																																																0			11											75	72	73					11																	9466732		2201	4294	6495	9423308	SO:0001819	synonymous_variant	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.3108G>A	11.37:g.9466732G>A			9423308	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	CCDS31425.1																																																																																				0.413	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		A	9466732	G	A	9466732	2	1	48	1	0	0	0	0	0	0	0	1	7797	1161	41	2		2	IPO7	11	9466732	Silent	SNP	G	TCGA-09-1672-01A-01W-0633-09		9466732	125539784	14	2279											
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91	81	85					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		A	25398284	C	A	25398284	3	1	48	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-09-1672-01A-01W-0633-09		25398284	108453611	15	2280											
PNN	5411	genome.wustl.edu	37	14	39650119	39650119	+	Frame_Shift_Del	DEL	C	C	-	rs2737727		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr14:39650119delC	ENST00000216832.4	+	9	1273	c.1206delC	c.(1204-1206)gacfs	p.D402fs	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	402	Glu-rich.			DQ -> EE (in Ref. 3; AAG33941). {ECO:0000305}.	cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TAATTGCTGACCAGGAGGTAA	0.403																																																0			14											120	105	110					14																	39650119		2203	4300	6503	38719870	SO:0001589	frameshift_variant	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1206delC	14.37:g.39650119delC	ENSP00000216832:p.Asp402fs		38719870	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Frame_Shift_Del	DEL	ENST00000216832.4	37	CCDS9671.1																																																																																				0.403	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		-	39650119	C	-	39650119	7	5	48	1	0	1	0	1	0	0	0	0	12160	506	18	0	1240	0	PNN	14	39650119	Frame_Shift_Del	DEL	C	TCGA-09-1672-01A-01W-0633-09		39650119	67699421	16	2281											
DYNC1H1	1778	genome.wustl.edu	37	14	102508447	102508447	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr14:102508447C>G	ENST00000360184.4	+	66	12364	c.12200C>G	c.(12199-12201)aCt>aGt	p.T4067S	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4067	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.T4067I(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACGCAGATCACTTCAATTGCA	0.547																																																1	Substitution - Missense(1)	skin(1)	14											101	83	89					14																	102508447		2203	4300	6503	101578200	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12200C>G	14.37:g.102508447C>G	ENSP00000348965:p.Thr4067Ser		101578200	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670308	0.47677	.	.	ENSG00000197102	ENST00000360184	T	0.08807	3.05	5.91	5.91	0.95273	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	N	0.25094	0.71	0.80722	D	1	B	0.22983	0.078	B	0.24974	0.057	T	0.16217	-1.0410	10	0.05721	T	0.95	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	4067	Q14204	DYHC1_HUMAN	S	4067	ENSP00000348965:T4067S	ENSP00000348965:T4067S	T	+	2	0	DYNC1H1	101578200	1.000000	0.71417	0.968000	0.41197	0.565000	0.35776	6.087000	0.71362	2.808000	0.96608	0.655000	0.94253	ACT		0.547	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102508447	C	G	102508447	3	3	48	1	0	0	0	0	1	0	0	0	4841	565	20	3	12462	3	DYNC1H1	14	102508447	Missense_Mutation	SNP	C	TCGA-09-1672-01A-01W-0633-09	62858328	102508447	4841093	17	2282											
GTPBP5	26164	genome.wustl.edu	37	20	60776028	60776028	+	Silent	SNP	G	G	A			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr20:60776028G>A	ENST00000370823.3	+	7	1134	c.1116G>A	c.(1114-1116)gcG>gcA	p.A372A	MTG2_ENST00000436421.2_Silent_p.A214A|MTG2_ENST00000536470.1_Silent_p.A144A	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	372	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										TGCTGTCGGCGTTGACCGGCG	0.632																																																0			20											49	47	48					20																	60776028		2203	4300	6503	60209423	SO:0001819	synonymous_variant	26164			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.1116G>A	20.37:g.60776028G>A			60209423	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	CCDS13492.1																																																																																				0.632	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		A	60776028	G	A	60776028	2	1	48	1	0	0	0	0	0	0	0	1	6883	1132	40	1		1	GTPBP5	20	60776028	Silent	SNP	G	TCGA-09-1672-01A-01W-0633-09		60776028	2249492	18	2283											
MX1	4599	genome.wustl.edu	37	21	42824602	42824602	+	Missense_Mutation	SNP	C	C	T	rs149039781		TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chr21:42824602C>T	ENST00000398600.2	+	18	2589	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	MX1_ENST00000455164.2_Missense_Mutation_p.R522C|MX1_ENST00000288383.6_Missense_Mutation_p.R499C|MX1_ENST00000398598.3_Missense_Mutation_p.R522C	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	522	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAAGCTGATCCGCCTCCACTT	0.423																																																0			21						C	CYS/ARG,CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	101	106	105		1564,1564,1564	2.6	0.3	21	dbSNP_134	105	0,8600		0,0,4300	yes	missense,missense,missense	MX1	NM_001144925.1,NM_001178046.1,NM_002462.3	180,180,180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging	522/663,522/663,522/663	42824602	4,13002	2203	4300	6503	41746472	SO:0001583	missense	4599				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1564C>T	21.37:g.42824602C>T	ENSP00000381601:p.Arg522Cys		41746472	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.156006	0.57259	9.08E-4	0.0	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	4.61	2.61	0.31194	Dynamin central domain (1);	0.271209	0.35708	N	0.003032	D	0.85448	0.5699	M	0.91459	3.21	0.45025	D	0.998044	D	0.89917	1.0	D	0.78314	0.991	D	0.84585	0.0663	10	0.87932	D	0	-8.4544	4.965	0.14085	0.2081:0.6843:0.0:0.1076	.	522	P20591	MX1_HUMAN	C	522;522;522;499	ENSP00000381601:R522C;ENSP00000381599:R522C;ENSP00000410523:R522C;ENSP00000288383:R499C	ENSP00000288383:R499C	R	+	1	0	MX1	41746472	0.986000	0.35501	0.328000	0.25416	0.022000	0.10575	0.749000	0.26320	1.239000	0.43787	0.563000	0.77884	CGC		0.423	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			T	42824602	C	T	42824602	3	4	48	1	0	0	0	0	1	0	0	0	9997	652	23	1	1610	1	MX1	21	42824602	Missense_Mutation	SNP	C	TCGA-09-1672-01A-01W-0633-09		42824602	5305293	19	2284											
FOXO4	4303	genome.wustl.edu	37	X	70321190	70321190	+	Silent	SNP	C	C	T			TCGA-09-1672-01A-01W-0633-09	TCGA-09-1672-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	94fa8218-12d5-4bca-8d3c-a7527e25e8fe	cad85798-3f6e-422f-bd7a-04fe46fdc8c9	g.chrX:70321190C>T	ENST00000374259.3	+	2	1442	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	FOXO4_ENST00000341558.3_Silent_p.L315L	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	370					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGGCCCTGCTCACCTCTGATA	0.617											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											25	27	26					X																	70321190		1998	4136	6134	70237915	SO:0001819	synonymous_variant	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1110C>T	X.37:g.70321190C>T		1121	70237915	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	ENST00000374259.3	37	CCDS43969.1																																																																																				0.617	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		T	70321190	C	T	70321190	2	4	48	1	0	0	0	0	0	0	0	1	6025	813	29	2		2	FOXO4	23	70321190	Silent	SNP	C	TCGA-09-1672-01A-01W-0633-09		70321190	84949370	20	2285											
FLG	2312	genome.wustl.edu	37	1	152277734	152277734	+	Missense_Mutation	SNP	G	G	A	rs571141981	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr1:152277734G>A	ENST00000368799.1	-	3	9663	c.9628C>T	c.(9628-9630)Cgc>Tgc	p.R3210C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3210	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCCTGGCGCCTGCTTCTC	0.557									Ichthyosis				G|||	2	0.000399361	0	0	5008	,	,		19579	0		0	False		,,,				2504	0.002															0			1											111	138	129					1																	152277734		2202	4280	6482	150544358	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9628C>T	1.37:g.152277734G>A	ENSP00000357789:p.Arg3210Cys		150544358	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.556	1.117193	0.20795	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	3.37	-1.73	0.08081	.	.	.	.	.	T	0.01124	0.0037	M	0.62723	1.935	0.09310	N	1	D	0.64830	0.994	P	0.48770	0.589	T	0.46233	-0.9206	9	0.48119	T	0.1	-1.4472	4.4703	0.11708	0.1228:0.0:0.3176:0.5596	.	3210	P20930	FILA_HUMAN	C	3210	ENSP00000357789:R3210C	ENSP00000357789:R3210C	R	-	1	0	FLG	150544358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.220000	0.02971	-0.094000	0.12374	0.449000	0.29647	CGC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152277734	G	A	152277734	3	1	49	1	0	0	0	0	1	0	0	0	5922	1087	38	1	2561	1	FLG	1	152277734	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09		152277734	96972887	1	2286											
OR2T12	127064	genome.wustl.edu	37	1	248458842	248458842	+	Silent	SNP	T	T	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr1:248458842T>C	ENST00000317996.1	-	1	38	c.39A>G	c.(37-39)ctA>ctG	p.L13L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAAAGAGTCCTAGGAGAATAA	0.448																																																1	Substitution - coding silent(1)	lung(1)	1											77	78	78					1																	248458842		2203	4298	6501	246525465	SO:0001819	synonymous_variant	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.39A>G	1.37:g.248458842T>C			246525465		Silent	SNP	ENST00000317996.1	37	CCDS31110.1																																																																																				0.448	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		C	248458842	T	C	248458842	2	2	49	1	0	0	0	0	0	0	0	1	11019	1509	53	4		4	OR2T12	1	248458842	Silent	SNP	T	TCGA-09-1673-01A-01W-0633-09	96181108	248458842	791779	2	2287											
TTN	7273	genome.wustl.edu	37	2	179396497	179396497	+	Missense_Mutation	SNP	G	G	A	rs576270358		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr2:179396497G>A	ENST00000591111.1	-	308	100146	c.99922C>T	c.(99922-99924)Cgc>Tgc	p.R33308C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25884C|TTN_ENST00000342992.6_Missense_Mutation_p.R32381C|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26076C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34949C|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26009C|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33308	Ig-like 146.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGCGAGCGCATTCTCAGT	0.443													G|||	1	0.000199681	0	0.0014	5008	,	,		22719	0		0	False		,,,				2504	0															0			2											85	84	84					2																	179396497		2001	4164	6165	179104743	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99922C>T	2.37:g.179396497G>A	ENSP00000465570:p.Arg33308Cys		179104743	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	16.87	3.242091	0.58995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.82204	0.4986	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83543	0.0097	9	0.87932	D	0	.	19.5233	0.95194	0.0:0.0:1.0:0.0	.	25884;26009;26076;33308	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	32381;25884;26076;26009;25881	ENSP00000343764:R32381C;ENSP00000434586:R25884C;ENSP00000340554:R26076C;ENSP00000352154:R26009C	ENSP00000340554:R26076C	R	-	1	0	TTN	179104743	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.934000	0.87649	2.615000	0.88500	0.650000	0.86243	CGC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179396497	G	A	179396497	3	1	49	1	0	0	0	0	1	0	0	0	16735	1087	38	1	3154	1	TTN	2	179396497	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09		179396497	63802876	3	2288											
FAM19A1	407738	genome.wustl.edu	37	3	68466492	68466492	+	Missense_Mutation	SNP	C	C	T	rs550621255		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr3:68466492C>T	ENST00000478136.1	+	3	671	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.R61W	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	61						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CATTGAGGAGCGGTCACAAAC	0.473													C|||	1	0.000199681	0	0	5008	,	,		17529	0		0	False		,,,				2504	0.001															0			3											133	135	134					3																	68466492		1974	4137	6111	68549182	SO:0001583	missense	407738			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.181C>T	3.37:g.68466492C>T	ENSP00000418575:p.Arg61Trp		68549182	A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911536	0.72983	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.67	3.62	0.41486	.	0.050582	0.85682	D	0.000000	T	0.79209	0.4407	M	0.78637	2.42	0.36053	D	0.840901	D	0.89917	1.0	D	0.83275	0.996	D	0.86037	0.1517	9	0.87932	D	0	.	15.947	0.79802	0.3206:0.6794:0.0:0.0	.	61	Q7Z5A9	F19A1_HUMAN	W	61	.	ENSP00000418575:R61W	R	+	1	2	FAM19A1	68549182	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	2.635000	0.46537	0.864000	0.35578	-1.378000	0.01179	CGG		0.473	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		T	68466492	C	T	68466492	3	4	49	1	0	0	0	0	1	0	0	0	5531	759	27	1	187	1	FAM19A1	3	68466492	Missense_Mutation	SNP	C	TCGA-09-1673-01A-01W-0633-09		68466492	129555938	4	2289											
TBC1D1	23216	genome.wustl.edu	37	4	38117507	38117507	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr4:38117507A>G	ENST00000261439.4	+	16	3089	c.2734A>G	c.(2734-2736)Atg>Gtg	p.M912V	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.M1006V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	912	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGCGTTTAAAATGCTCAAGTT	0.428																																																0			4											136	132	134					4																	38117507		2203	4300	6503	37793902	SO:0001583	missense	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2734A>G	4.37:g.38117507A>G	ENSP00000261439:p.Met912Val		37793902	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.233377|4.233377	0.79688|0.79688	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732|ENST00000510573	T;T|.	0.10668|.	2.85;2.85|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Rab-GAP/TBC domain (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.47303|0.47303	0.1438|0.1438	N|N	0.12831|0.12831	0.26|0.26	0.80722|0.80722	D|D	1|1	P;P;D|.	0.56521|.	0.86;0.938;0.976|.	P;P;P|.	0.60012|.	0.825;0.867;0.852|.	T|T	0.45041|0.45041	-0.9288|-0.9288	10|5	0.17832|.	T|.	0.49|.	-28.3484|-28.3484	15.7734|15.7734	0.78190|0.78190	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1006;644;912|.	E9PGH8;Q6PJJ8;Q86TI0|.	.;.;TBCD1_HUMAN|.	V|S	1006;912;176|599	ENSP00000423651:M1006V;ENSP00000261439:M912V|.	ENSP00000261439:M912V|.	M|N	+|+	1|2	0|0	TBC1D1|TBC1D1	37793902|37793902	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.993000|0.993000	0.82548|0.82548	6.922000|6.922000	0.75811|0.75811	2.136000|2.136000	0.66102|0.66102	0.459000|0.459000	0.35465|0.35465	ATG|AAT		0.428	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		G	38117507	A	G	38117507	3	3	49	1	0	0	0	0	1	0	0	0	15597	101	4	4	2792	4	TBC1D1	4	38117507	Missense_Mutation	SNP	A	TCGA-09-1673-01A-01W-0633-09		38117507	153036769	5	2290											
BRD9	65980	genome.wustl.edu	37	5	884086	884086	+	Silent	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr5:884086C>A	ENST00000467963.1	-	8	1099	c.933G>T	c.(931-933)cgG>cgT	p.R311R	BRD9_ENST00000483173.1_Silent_p.R258R|BRD9_ENST00000388890.4_Silent_p.R195R|BRD9_ENST00000435709.2_Silent_p.R195R|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000323510.4_Silent_p.R215R	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	311					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TGATCCTGTCCCGAGCTTCGT	0.627																																																0			5											128	99	109					5																	884086		2203	4300	6503	937086	SO:0001819	synonymous_variant	65980			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.933G>T	5.37:g.884086C>A			937086	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																				0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		A	884086	C	A	884086	2	1	49	1	0	0	0	0	0	0	0	1	1507	610	22	3		3	BRD9	5	884086	Silent	SNP	C	TCGA-09-1673-01A-01W-0633-09		884086	180031174	6	2291											
PDE7B	27115	genome.wustl.edu	37	6	136500269	136500269	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr6:136500269T>A	ENST00000308191.6	+	10	1241	c.938T>A	c.(937-939)tTt>tAt	p.F313Y	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	313	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GACAGGCACTTTATGCTTCAG	0.448																																																0			6											121	110	114					6																	136500269		2203	4300	6503	136541962	SO:0001583	missense	27115			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.938T>A	6.37:g.136500269T>A	ENSP00000310661:p.Phe313Tyr		136541962	Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.938321	0.92526	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.76839	-1.05	5.73	5.73	0.89815	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.051690	0.85682	D	0.000000	T	0.81211	0.4775	L	0.45744	1.44	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.975	T	0.82542	-0.0405	10	0.51188	T	0.08	.	16.0067	0.80367	0.0:0.0:0.0:1.0	.	365;313	A1E5M1;Q9NP56	.;PDE7B_HUMAN	Y	313;449	ENSP00000310661:F313Y	ENSP00000310661:F313Y	F	+	2	0	PDE7B	136541962	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.040000	0.89188	2.187000	0.69744	0.402000	0.26972	TTT		0.448	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			A	136500269	T	A	136500269	3	1	49	1	0	0	0	0	1	0	0	0	11652	1841	64	5	976	5	PDE7B	6	136500269	Missense_Mutation	SNP	T	TCGA-09-1673-01A-01W-0633-09		136500269	34614798	7	2292											
LAMB1	3912	genome.wustl.edu	37	7	107576039	107576039	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr7:107576039C>A	ENST00000222399.6	-	27	4239	c.4009G>T	c.(4009-4011)Gcc>Tcc	p.A1337S	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1361S|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1337	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GTGGTGGAGGCATTCACCCTC	0.488																																																0			7											243	208	220					7																	107576039		2203	4300	6503	107363275	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4009G>T	7.37:g.107576039C>A	ENSP00000222399:p.Ala1337Ser		107363275	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343895	0.82022	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.33654	1.4;1.4	5.42	5.42	0.78866	.	.	.	.	.	T	0.53222	0.1783	M	0.65498	2.005	0.80722	D	1	P;D	0.63880	0.901;0.993	P;P	0.54664	0.49;0.758	T	0.48758	-0.9007	9	0.41790	T	0.15	.	19.4006	0.94627	0.0:1.0:0.0:0.0	.	1337;1361	P07942;G3XAI2	LAMB1_HUMAN;.	S	1361;1337	ENSP00000377191:A1361S;ENSP00000222399:A1337S	ENSP00000222399:A1337S	A	-	1	0	LAMB1	107363275	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.434000	0.59935	2.820000	0.97059	0.650000	0.86243	GCC		0.488	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107576039	C	A	107576039	3	1	49	1	0	0	0	0	1	0	0	0	8610	710	25	3	1383	3	LAMB1	7	107576039	Missense_Mutation	SNP	C	TCGA-09-1673-01A-01W-0633-09		107576039	51562624	8	2293											
CADPS2	93664	genome.wustl.edu	37	7	122303605	122303605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr7:122303605G>A	ENST00000449022.2	-	3	491	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CADPS2_ENST00000334010.7_Nonsense_Mutation_p.R158*|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.R158*|CADPS2_ENST00000412584.2_Nonsense_Mutation_p.R158*	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	158					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTGGCCACTCGGTCACTCTTT	0.373																																																0			7											19	18	18					7																	122303605		1848	4102	5950	122090841	SO:0001587	stop_gained	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.472C>T	7.37:g.122303605G>A	ENSP00000398481:p.Arg158*		122090841	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Nonsense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	41	8.919678	0.99002	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.	.	.	5.27	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2869	13.0688	0.59048	0.0:0.0:0.7078:0.2922	.	.	.	.	X	158;158;158;125;158;158	.	ENSP00000325581:R158X	R	-	1	2	CADPS2	122090841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.698000	0.61789	1.206000	0.43276	0.650000	0.86243	CGA		0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		A	122303605	G	A	122303605	4	1	49	1	0	0	0	0	0	1	0	0	2571	1124	39	1	3574	1	CADPS2	7	122303605	Nonsense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09	14727566	122303605	36835058	9	2294											
WASL	8976	genome.wustl.edu	37	7	123346825	123346825	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr7:123346825G>A	ENST00000223023.4	-	3	640	c.308C>T	c.(307-309)cCt>cTt	p.P103L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	103	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATATCCTCTAGGACTATTATA	0.279																																																0			7											45	50	49					7																	123346825		2196	4274	6470	123134061	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.308C>T	7.37:g.123346825G>A	ENSP00000223023:p.Pro103Leu		123134061	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447313	0.84101	.	.	ENSG00000106299	ENST00000223023	D	0.98684	-5.07	5.56	5.56	0.83823	EVH1 (3);Pleckstrin homology-type (1);	0.104649	0.64402	D	0.000002	D	0.97334	0.9128	L	0.38838	1.175	0.80722	D	1	P	0.37663	0.604	B	0.40477	0.33	D	0.97650	1.0154	10	0.87932	D	0	-11.1391	19.9019	0.96988	0.0:0.0:1.0:0.0	.	103	O00401	WASL_HUMAN	L	103	ENSP00000223023:P103L	ENSP00000223023:P103L	P	-	2	0	WASL	123134061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.972000	0.70448	2.781000	0.95711	0.650000	0.86243	CCT		0.279	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		A	123346825	G	A	123346825	3	1	49	1	0	0	0	0	1	0	0	0	17256	1000	35	2	1245	2	WASL	7	123346825	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09	1043220	123346825	35791838	10	2295											
SSPO	23145	genome.wustl.edu	37	7	149518041	149518041	+	RNA	SNP	C	C	T	rs117930273	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr7:149518041C>T	ENST00000378016.2	+	0	12384							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACAGCTGGGCCCCGGGGAGCC	0.677													C|||	51	0.0101837	0.0015	0.013	5008	,	,		17902	0.001		0.0368	False		,,,				2504	0.002															0			7						C		39,4121		0,39,2041	11	16	14		12398	3.5	1	7	dbSNP_132	14	387,8033		13,361,3836	yes	coding-notMod3	SSPO	NM_198455.2		13,400,5877	TT,TC,CC		4.5962,0.9375,3.3863			149518041	426,12154	2080	4210	6290	149148974			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518041C>T			149148974	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149518041	C	T	149518041	1	4	49	0	1	0	0	0	0	0	0	0	15191	610	22	2		2	SSPO	7	149518041	RNA	SNP	C	TCGA-09-1673-01A-01W-0633-09	26171216	149518041	9620622	11	2296											
ARHGEF10	9639	genome.wustl.edu	37	8	1812556	1812556	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr8:1812556G>C	ENST00000398564.1	+	5	574	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E192Q|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E168Q|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E167Q|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.E192Q|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E192Q			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	192					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGAAGTCACAGAAGATCGCCA	0.473																																																0			8											146	126	133					8																	1812556		2203	4300	6503	1799963	SO:0001583	missense	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.574G>C	8.37:g.1812556G>C	ENSP00000381571:p.Glu192Gln		1799963	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	G	7.699	0.692625	0.15039	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.66638	0.28;0.19;0.27;-0.22;0.27;0.26	3.9	3.01	0.34805	.	2.301840	0.01838	N	0.035127	T	0.64494	0.2603	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B	0.21071	0.01;0.01;0.011;0.01;0.051	B;B;B;B;B	0.15052	0.008;0.012;0.005;0.008;0.012	T	0.46400	-0.9194	10	0.27082	T	0.32	-8.5098	11.8003	0.52122	0.0:0.1779:0.8221:0.0	.	192;192;192;168;167	O15013-4;O15013-6;E9PB39;O15013-7;O15013-5	.;.;.;.;.	Q	167;168;192;192;192;192	ENSP00000340297:E167Q;ENSP00000427909:E168Q;ENSP00000431012:E192Q;ENSP00000381568:E192Q;ENSP00000381571:E192Q;ENSP00000262112:E192Q	ENSP00000262112:E192Q	E	+	1	0	ARHGEF10	1799963	0.962000	0.33011	0.002000	0.10522	0.010000	0.07245	3.041000	0.49807	0.950000	0.37743	0.655000	0.94253	GAA		0.473	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				C	1812556	G	C	1812556	3	2	49	1	0	0	0	0	1	0	0	0	894	943	33	3	513	3	ARHGEF10	8	1812556	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09		1812556	144551466	12	2297											
CBWD1	55871	genome.wustl.edu	37	9	121503	121503	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr9:121503C>A	ENST00000356521.4	-	15	1240	c.1152G>T	c.(1150-1152)tgG>tgT	p.W384C	CBWD1_ENST00000475411.1_5'Flank|CBWD1_ENST00000314367.10_Missense_Mutation_p.W348C|CBWD1_ENST00000382447.4_Missense_Mutation_p.W365C|CBWD1_ENST00000377400.4_Missense_Mutation_p.W336C	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	384							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AACGTGTTGTCCACTGCTTTT	0.328																																																0			9											349	354	352					9																	121503		2203	4299	6502	111503	SO:0001583	missense	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.1152G>T	9.37:g.121503C>A	ENSP00000348915:p.Trp384Cys		111503	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	ENST00000356521.4	37	CCDS6438.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.239338	0.22711	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367	T;T;T;T	0.09723	3.12;3.13;3.15;2.95	3.08	1.08	0.20341	.	1.317630	0.04842	N	0.440601	T	0.12008	0.0292	N	0.22421	0.69	0.09310	N	0.999992	P;P;P	0.50819	0.939;0.896;0.833	P;P;B	0.50136	0.51;0.632;0.312	T	0.21211	-1.0252	10	0.72032	D	0.01	-5.7443	4.6023	0.12359	0.0:0.6413:0.2251:0.1336	.	365;348;384	Q9BRT8-3;Q9BRT8-2;Q9BRT8	.;.;CBWD1_HUMAN	C	384;336;365;348	ENSP00000348915:W384C;ENSP00000366617:W336C;ENSP00000371885:W365C;ENSP00000323433:W348C	ENSP00000323433:W348C	W	-	3	0	CBWD1	111503	0.933000	0.31639	0.003000	0.11579	0.024000	0.10985	1.753000	0.38359	0.138000	0.18790	-0.510000	0.04470	TGG		0.328	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491		A	121503	C	A	121503	3	1	49	1	0	0	0	0	1	0	0	0	2712	856	30	3	39	3	CBWD1	9	121503	Missense_Mutation	SNP	C	TCGA-09-1673-01A-01W-0633-09		121503	141091928	13	2298											
ALDOB	229	genome.wustl.edu	37	9	104187133	104187133	+	Missense_Mutation	SNP	G	G	A	rs150407710		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr9:104187133G>A	ENST00000374855.4	-	8	1115	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	331					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACCATGGCCCGCTTCATAAAA	0.522																																																0			9						G	TRP/ARG	0,4406		0,0,2203	109	105	106		991	4.7	1	9	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ALDOB	NM_000035.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	331/365	104187133	1,13005	2203	4300	6503	103226954	SO:0001583	missense	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.991C>T	9.37:g.104187133G>A	ENSP00000363988:p.Arg331Trp		103226954	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950468	0.73787	0.0	1.16E-4	ENSG00000136872	ENST00000374855	D	0.87887	-2.31	5.63	4.72	0.59763	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96940	0.9687	10	0.87932	D	0	-12.898	15.1417	0.72615	0.0:0.0:0.8576:0.1424	.	331	P05062	ALDOB_HUMAN	W	331	ENSP00000363988:R331W	ENSP00000363988:R331W	R	-	1	2	ALDOB	103226954	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.531000	0.53546	1.476000	0.48215	0.561000	0.74099	CGG		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			A	104187133	G	A	104187133	3	1	49	1	0	0	0	0	1	0	0	0	508	1086	38	1	111	1	ALDOB	9	104187133	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09	104065630	104187133	37026298	14	2299											
LAMC3	10319	genome.wustl.edu	37	9	133914434	133914434	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr9:133914434C>T	ENST00000361069.4	+	5	1293	c.1160C>T	c.(1159-1161)tCg>tTg	p.S387L	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	387	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GACTGCCAGTCGGCAGGTGAG	0.627																																																0			9											44	44	44					9																	133914434		2203	4300	6503	132904255	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1160C>T	9.37:g.133914434C>T	ENSP00000354360:p.Ser387Leu		132904255	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	9.652	1.141912	0.21205	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.61392	0.11	4.83	2.9	0.33743	EGF-like, laminin (3);	0.457648	0.25469	N	0.030450	T	0.43233	0.1238	L	0.31207	0.915	0.25346	N	0.988905	B	0.14012	0.009	B	0.13407	0.009	T	0.39603	-0.9606	10	0.66056	D	0.02	.	9.1526	0.36973	0.0:0.8085:0.0:0.1915	.	387	Q9Y6N6	LAMC3_HUMAN	L	387	ENSP00000354360:S387L	ENSP00000325873:S387L	S	+	2	0	LAMC3	132904255	0.002000	0.14202	0.351000	0.25721	0.005000	0.04900	1.269000	0.33074	0.476000	0.27440	-0.148000	0.13756	TCG		0.627	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133914434	C	T	133914434	3	4	49	1	0	0	0	0	1	0	0	0	8616	893	31	1	1178	1	LAMC3	9	133914434	Missense_Mutation	SNP	C	TCGA-09-1673-01A-01W-0633-09	29727301	133914434	7298997	15	2300											
TMEM8C	389827	genome.wustl.edu	37	9	136379775	136379775	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr9:136379775A>C	ENST00000339996.3	-	5	750	c.649T>G	c.(649-651)Tgc>Ggc	p.C217G	TMEM8C_ENST00000413714.1_5'Flank	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	217					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CAAGCACAGCACAGGGTGGAG	0.637																																																0			9											89	81	84					9																	136379775		2203	4300	6503	135369596	SO:0001583	missense	389827			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.649T>G	9.37:g.136379775A>C	ENSP00000419712:p.Cys217Gly		135369596		Missense_Mutation	SNP	ENST00000339996.3	37	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	N	13.10	2.137069	0.37728	.	.	ENSG00000187616	ENST00000339996	T	0.44881	0.91	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	L	0.44542	1.39	0.52501	D	0.999957	D	0.65815	0.995	D	0.72982	0.979	T	0.56703	-0.7935	10	0.72032	D	0.01	-39.2473	11.8468	0.52389	1.0:0.0:0.0:0.0	.	217	A6NI61	TMM8C_HUMAN	G	217	ENSP00000419712:C217G	ENSP00000419712:C217G	C	-	1	0	TMEM8C	135369596	1.000000	0.71417	0.126000	0.21872	0.075000	0.17131	8.584000	0.90798	1.537000	0.49254	0.326000	0.21444	TGC		0.637	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		C	136379775	A	C	136379775	3	2	49	1	0	0	0	0	1	0	0	0	16216	159	6	5	20	5	TMEM8C	9	136379775	Missense_Mutation	SNP	A	TCGA-09-1673-01A-01W-0633-09	2465341	136379775	4833656	16	2301											
ABI1	10006	genome.wustl.edu	37	10	27044653	27044653	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr10:27044653G>A	ENST00000376142.2	-	10	1167	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	ABI1_ENST00000355394.4_Missense_Mutation_p.P367S|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376139.2_Missense_Mutation_p.P334S|ABI1_ENST00000376160.1_Missense_Mutation_p.P333S|ABI1_ENST00000376134.3_Missense_Mutation_p.P340S|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000359188.4_Missense_Mutation_p.P338S|ABI1_ENST00000346832.5_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000376140.3_Missense_Mutation_p.P339S|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000376137.4_Missense_Mutation_p.P281S	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	366	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATAGGGGGAGGGGGTGGAGCA	0.453																																																0			10											91	93	92					10																	27044653		2203	4300	6503	27084659	SO:0001583	missense	10006			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1096C>T	10.37:g.27044653G>A	ENSP00000365312:p.Pro366Ser		27084659	A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115360	0.94339	.	.	ENSG00000136754	ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000376134;ENST00000376137;ENST00000376140	T;T;T;T;T;T;T;T	0.46819	0.99;0.92;0.94;0.89;1.08;0.86;1.09;0.97	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.68072	0.2961	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.968;0.999;1.0;1.0;0.998	T	0.66674	-0.5864	10	0.49607	T	0.09	-0.2412	19.6869	0.95982	0.0:0.0:1.0:0.0	.	280;338;334;339;366	B6VEX3;Q8IZP0-6;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;ABI1_HUMAN	S	333;366;338;334;367;340;281;339	ENSP00000365330:P333S;ENSP00000365312:P366S;ENSP00000352114:P338S;ENSP00000365309:P334S;ENSP00000347555:P367S;ENSP00000365304:P340S;ENSP00000365307:P281S;ENSP00000365310:P339S	ENSP00000347555:P367S	P	-	1	0	ABI1	27084659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.726000	0.93360	0.655000	0.94253	CCT		0.453	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		A	27044653	G	A	27044653	3	1	49	1	0	0	0	0	1	0	0	0	88	1232	43	2	442	2	ABI1	10	27044653	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09		27044653	108490094	17	2302											
OR13A1	79290	genome.wustl.edu	37	10	45799338	45799338	+	Missense_Mutation	SNP	G	G	A	rs548749406		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr10:45799338G>A	ENST00000553795.1	-	4	841	c.533C>T	c.(532-534)aCg>aTg	p.T178M	OR13A1_ENST00000374401.2_Missense_Mutation_p.T178M|OR13A1_ENST00000536058.1_Missense_Mutation_p.T178M	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CATCAGCCCCGTGTGGATGGC	0.602													G|||	1	0.000199681	0	0	5008	,	,		21078	0		0	False		,,,				2504	0.001															0			10											42	45	44					10																	45799338		2201	4297	6498	45119344	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.533C>T	10.37:g.45799338G>A	ENSP00000451950:p.Thr178Met		45119344	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	g	7.419	0.636429	0.14386	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00265	8.39;8.39;8.39	5.78	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.276195	0.25768	N	0.028431	T	0.00300	0.0009	M	0.70842	2.15	0.09310	N	1	B	0.25743	0.133	B	0.34452	0.183	T	0.28902	-1.0029	10	0.72032	D	0.01	-19.5976	15.0034	0.71492	0.0771:0.0:0.9229:0.0	.	178	Q8NGR1	O13A1_HUMAN	M	178	ENSP00000451950:T178M;ENSP00000438657:T178M;ENSP00000363522:T178M	ENSP00000311379:T178M	T	-	2	0	OR13A1	45119344	0.178000	0.23122	0.610000	0.28997	0.154000	0.21943	1.852000	0.39348	0.791000	0.33826	-0.850000	0.03035	ACG		0.602	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		A	45799338	G	A	45799338	3	1	49	1	0	0	0	0	1	0	0	0	10933	1145	40	1	457	1	OR13A1	10	45799338	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09	18754685	45799338	89735409	18	2303											
LIPN	643418	genome.wustl.edu	37	10	90526063	90526063	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr10:90526063A>G	ENST00000404459.1	+	4	463	c.463A>G	c.(463-465)Ata>Gta	p.I155V		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	155					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CCCAGGAGTAATAGACTTCAT	0.348																																																0			10											146	140	142					10																	90526063		1811	4069	5880	90516043	SO:0001583	missense	643418				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"lipase-like, ab-hydrolase domain containing 4"	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.463A>G	10.37:g.90526063A>G	ENSP00000383923:p.Ile155Val		90516043	A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	A	8.886	0.952810	0.18431	.	.	ENSG00000204020	ENST00000404459	T	0.72282	-0.64	5.27	-1.14	0.09741	Alpha/beta hydrolase fold-1 (1);	0.296096	0.29884	N	0.010949	T	0.56949	0.2020	L	0.39566	1.225	0.25356	N	0.988826	B	0.12013	0.005	B	0.20577	0.03	T	0.49872	-0.8893	10	0.51188	T	0.08	-12.1808	9.2748	0.37692	0.6052:0.0:0.3948:0.0	.	155	Q5VXI9	LIPN_HUMAN	V	155	ENSP00000383923:I155V	ENSP00000383923:I155V	I	+	1	0	LIPN	90516043	0.925000	0.31364	0.450000	0.26969	0.738000	0.42128	0.123000	0.15708	-0.351000	0.08249	-0.911000	0.02809	ATA		0.348	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751		G	90526063	A	G	90526063	3	3	49	1	0	0	0	0	1	0	0	0	8828	101	4	4	477	4	LIPN	10	90526063	Missense_Mutation	SNP	A	TCGA-09-1673-01A-01W-0633-09	44726725	90526063	45008684	19	2304											
DRD2	1813	genome.wustl.edu	37	11	113286216	113286216	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr11:113286216C>T	ENST00000362072.3	-	5	994	c.650G>A	c.(649-651)cGc>cAc	p.R217H	DRD2_ENST00000544518.1_Missense_Mutation_p.R216H|DRD2_ENST00000355319.2_Missense_Mutation_p.R217H|DRD2_ENST00000346454.3_Missense_Mutation_p.R217H|DRD2_ENST00000538967.1_Missense_Mutation_p.R217H|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.R217H	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	217	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCGGCGTCTGCGGAGGACAAT	0.572																																																0			11											174	151	159					11																	113286216		2201	4296	6497	112791426	SO:0001583	missense	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.650G>A	11.37:g.113286216C>T	ENSP00000354859:p.Arg217His		112791426	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216223	0.95104	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.67	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.77004	0.969;0.981;0.981;0.989	T	0.74300	-0.3710	10	0.87932	D	0	.	14.461	0.67450	0.0:0.9297:0.0:0.0703	.	216;217;217;217	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	H	217;217;217;216;217;217	ENSP00000347474:R217H;ENSP00000278597:R217H;ENSP00000354859:R217H;ENSP00000441068:R216H;ENSP00000442172:R217H;ENSP00000438215:R217H	ENSP00000278597:R217H	R	-	2	0	DRD2	112791426	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.088000	0.71371	1.398000	0.46701	0.561000	0.74099	CGC		0.572	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		T	113286216	C	T	113286216	3	4	49	1	0	0	0	0	1	0	0	0	4757	768	27	1	697	1	DRD2	11	113286216	Missense_Mutation	SNP	C	TCGA-09-1673-01A-01W-0633-09		113286216	21720300	20	2305											
KRT2	3849	genome.wustl.edu	37	12	53045435	53045435	+	Silent	SNP	G	G	A	rs201708557		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr12:53045435G>A	ENST00000309680.3	-	1	513	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	164	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAACTTTCACGTTGAGAGGCT	0.527																																																0			12											133	132	132					12																	53045435		2203	4300	6503	51331702	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.492C>T	12.37:g.53045435G>A			51331702	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.527	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		A	53045435	G	A	53045435	2	1	49	1	0	0	0	0	0	0	0	1	8457	1136	40	1		1	KRT2	12	53045435	Silent	SNP	G	TCGA-09-1673-01A-01W-0633-09		53045435	80806460	21	2306											
N4BP2L1	90634	genome.wustl.edu	37	13	32977286	32977286	+	Silent	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr13:32977286C>A	ENST00000380133.2	-	5	575	c.525G>T	c.(523-525)cgG>cgT	p.R175R	N4BP2L1_ENST00000380130.2_Silent_p.R175R|N4BP2L1_ENST00000530622.2_Silent_p.R69R|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.V173L|N4BP2L1_ENST00000459716.1_5'UTR			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	175										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CGTGTTCATACCGTTCTTTCA	0.388																																																0			13											247	226	233					13																	32977286		2203	4300	6503	31875286	SO:0001819	synonymous_variant	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.525G>T	13.37:g.32977286C>A			31875286	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380133.2	37	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905909	0.72868	.	.	ENSG00000139597	ENST00000380139	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.48040	0.1478	.	.	.	0.80722	D	1	P	0.46784	0.884	B	0.38500	0.275	T	0.55848	-0.8076	7	0.87932	D	0	.	15.3627	0.74492	0.0:0.861:0.139:0.0	.	173	Q5TBK1-2	.	L	173	.	ENSP00000369484:V173L	V	-	1	0	N4BP2L1	31875286	0.969000	0.33509	1.000000	0.80357	0.999000	0.98932	0.221000	0.17680	2.760000	0.94817	0.655000	0.94253	GTA		0.388	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818		A	32977286	C	A	32977286	2	1	49	1	0	0	0	0	0	0	0	1	10111	507	18	3		3	N4BP2L1	13	32977286	Silent	SNP	C	TCGA-09-1673-01A-01W-0633-09		32977286	82192592	22	2307											
NHLRC3	387921	genome.wustl.edu	37	13	39618257	39618257	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr13:39618257A>G	ENST00000379600.3	+	5	939	c.617A>G	c.(616-618)aAt>aGt	p.N206S	NHLRC3_ENST00000470258.1_Missense_Mutation_p.N9S|NHLRC3_ENST00000379599.2_Missense_Mutation_p.N139S	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	206						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CATGGAGAAAATGGGACAGGG	0.393																																																0			13											266	261	263					13																	39618257		2203	4300	6503	38516257	SO:0001583	missense	387921				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.617A>G	13.37:g.39618257A>G	ENSP00000368920:p.Asn206Ser		38516257	B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000327	0.35320	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599;ENST00000537150	T;T;T	0.63096	-0.02;0.98;-0.02	5.88	3.49	0.39957	Six-bladed beta-propeller, TolB-like (1);	0.290961	0.42420	N	0.000720	T	0.42899	0.1223	N	0.25286	0.73	0.18873	N	0.999989	B;B;B	0.15141	0.012;0.011;0.008	B;B;B	0.12837	0.008;0.008;0.005	T	0.21449	-1.0245	9	.	.	.	-13.6645	7.8612	0.29511	0.7771:0.0:0.2229:0.0	.	139;206;206	B4DTL0;Q5JS37;B4DRC8	.;NHLC3_HUMAN;.	S	9;206;139;139	ENSP00000418127:N9S;ENSP00000368920:N206S;ENSP00000368919:N139S	.	N	+	2	0	NHLRC3	38516257	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.900000	0.56295	0.500000	0.27991	0.528000	0.53228	AAT		0.393	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		G	39618257	A	G	39618257	3	3	49	1	0	0	0	0	1	0	0	0	10407	101	4	4	635	4	NHLRC3	13	39618257	Missense_Mutation	SNP	A	TCGA-09-1673-01A-01W-0633-09	6640971	39618257	75551621	23	2308											
OR4Q3	441669	genome.wustl.edu	37	14	20216332	20216332	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr14:20216332G>A	ENST00000331723.1	+	1	746	c.746G>A	c.(745-747)aGc>aAc	p.S249N		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGTGGTCAGCCTGATCTTC	0.458																																																0			14											174	168	170					14																	20216332		2203	4300	6503	19286172	SO:0001583	missense	441669			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.746G>A	14.37:g.20216332G>A	ENSP00000330049:p.Ser249Asn		19286172	Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.88	2.071259	0.36566	.	.	ENSG00000182652	ENST00000331723	T	0.38560	1.13	4.1	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.341325	0.20866	U	0.084253	T	0.50429	0.1615	M	0.89030	3	0.24776	N	0.992842	P	0.38677	0.642	B	0.41412	0.356	T	0.54437	-0.8294	10	0.87932	D	0	.	8.4622	0.32934	0.0:0.0:0.6458:0.3542	.	249	Q8NH05	OR4Q3_HUMAN	N	249	ENSP00000330049:S249N	ENSP00000330049:S249N	S	+	2	0	OR4Q3	19286172	0.000000	0.05858	1.000000	0.80357	0.134000	0.20937	0.081000	0.14823	2.106000	0.64143	0.509000	0.49947	AGC		0.458	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			A	20216332	G	A	20216332	3	1	49	1	0	0	0	0	1	0	0	0	11081	971	34	2	748	2	OR4Q3	14	20216332	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09		20216332	87133208	24	2309											
SNRPN	6638	genome.wustl.edu	37	15	25222124	25222124	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr15:25222124C>G	ENST00000400100.1	+	10	1258	c.368C>G	c.(367-369)gCc>gGc	p.A123G	SNRPN_ENST00000577565.1_Missense_Mutation_p.A123G|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Missense_Mutation_p.A123G|SNRPN_ENST00000390687.4_Missense_Mutation_p.A123G|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400098.1_Missense_Mutation_p.A123G|SNRPN_ENST00000554227.2_Missense_Mutation_p.A127G|SNRPN_ENST00000444203.2_Missense_Mutation_p.A127G|SNRPN_ENST00000400097.1_Missense_Mutation_p.A123G	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	123					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ATTCCCCAGGCCCCTGCTGGA	0.582									Prader-Willi syndrome																																							0			15											49	52	51					15																	25222124		1856	4100	5956	22773217	SO:0001583	missense	6638	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.368C>G	15.37:g.25222124C>G	ENSP00000382972:p.Ala123Gly		22773217	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721078	0.48728	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.51071	0.73;0.73;0.73;0.72;0.73;0.72	3.79	0.694	0.18062	.	0.118422	0.56097	N	0.000027	T	0.35595	0.0937	M	0.66439	2.03	0.80722	D	1	P;P	0.39250	0.665;0.665	B;B	0.32624	0.149;0.149	T	0.12167	-1.0558	10	0.59425	D	0.04	-6.3302	3.7667	0.08626	0.1681:0.571:0.1634:0.0976	.	127;123	B3KVR1;P63162	.;RSMN_HUMAN	G	123;123;123;127;123;127	ENSP00000382972:A123G;ENSP00000382970:A123G;ENSP00000382969:A123G;ENSP00000452342:A127G;ENSP00000375105:A123G;ENSP00000408767:A127G	ENSP00000375105:A123G	A	+	2	0	SNRPN	22773217	1.000000	0.71417	0.935000	0.37517	0.984000	0.73092	6.263000	0.72521	0.162000	0.19483	0.561000	0.74099	GCC		0.582	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		G	25222124	C	G	25222124	3	3	49	1	0	0	0	0	1	0	0	0	14873	739	26	3	382	3	SNRPN	15	25222124	Missense_Mutation	SNP	C	TCGA-09-1673-01A-01W-0633-09		25222124	77309268	25	2310											
NEIL1	79661	genome.wustl.edu	37	15	75647145	75647145	+	Missense_Mutation	SNP	G	G	A	rs376283006		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr15:75647145G>A	ENST00000564784.1	+	10	1717	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	MIR631_ENST00000384904.1_RNA|RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000569035.1_Missense_Mutation_p.R363Q|NEIL1_ENST00000355059.4_Missense_Mutation_p.R363Q			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	363					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R363Q(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGGAAGGGGCGACAGGCAGCC	0.617								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	large_intestine(1)	15						G	GLN/ARG	0,4394		0,0,2197	35	41	39		1088	-6.8	0	15		39	1,8587	1.2+/-3.3	0,1,4293	no	missense	NEIL1	NM_024608.2	43	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	benign	363/391	75647145	1,12981	2197	4294	6491	73434198	SO:0001583	missense	79661			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.1088G>A	15.37:g.75647145G>A	ENSP00000457352:p.Arg363Gln		73434198	D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499786	0.26861	0.0	1.16E-4	ENSG00000140398	ENST00000355059	T	0.12774	2.65	4.06	-6.84	0.01687	.	2.658450	0.01189	N	0.007270	T	0.10337	0.0253	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.13872	-1.0493	10	0.32370	T	0.25	0.8156	13.8792	0.63672	0.7573:0.0:0.2427:0.0	.	363	Q96FI4	NEIL1_HUMAN	Q	363	ENSP00000347170:R363Q	ENSP00000347170:R363Q	R	+	2	0	NEIL1	73434198	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.108000	0.03313	-1.704000	0.01407	0.555000	0.69702	CGA		0.617	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		A	75647145	G	A	75647145	3	1	49	1	0	0	0	0	1	0	0	0	10318	1058	37	1	1118	1	NEIL1	15	75647145	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09	50425021	75647145	26884247	26	2311											
MMP2	4313	genome.wustl.edu	37	16	55532290	55532290	+	Silent	SNP	C	C	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr16:55532290C>A	ENST00000219070.4	+	11	2208	c.1699C>A	c.(1699-1701)Cga>Aga	p.R567R	MMP2_ENST00000437642.2_Silent_p.R517R|MMP2_ENST00000570308.1_Silent_p.R491R|MMP2_ENST00000543485.1_Silent_p.R491R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	567	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.R567*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGATGTCCAGCGAGTGGATGC	0.562																																																1	Substitution - Nonsense(1)	lung(1)	16											96	87	90					16																	55532290		2198	4300	6498	54089791	SO:0001819	synonymous_variant	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1699C>A	16.37:g.55532290C>A			54089791	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	CCDS10752.1																																																																																				0.562	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			A	55532290	C	A	55532290	2	1	49	1	0	0	0	0	0	0	0	1	9658	760	27	3		3	MMP2	16	55532290	Silent	SNP	C	TCGA-09-1673-01A-01W-0633-09		55532290	34822463	27	2312											
FBXO39	162517	genome.wustl.edu	37	17	6683944	6683944	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:6683944A>G	ENST00000321535.4	+	2	887	c.757A>G	c.(757-759)Acc>Gcc	p.T253A		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	253										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CACCCTCCGGACCATCAACAT	0.537																																																0			17											110	94	100					17																	6683944		2203	4300	6503	6624668	SO:0001583	missense	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.757A>G	17.37:g.6683944A>G	ENSP00000321386:p.Thr253Ala		6624668		Missense_Mutation	SNP	ENST00000321535.4	37	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022715	0.35701	.	.	ENSG00000177294	ENST00000321535	T	0.53857	0.6	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000004	T	0.37571	0.1008	L	0.29908	0.895	0.37098	D	0.899747	B	0.26363	0.147	B	0.22152	0.038	T	0.36261	-0.9755	10	0.17832	T	0.49	-37.7914	11.7215	0.51685	1.0:0.0:0.0:0.0	.	253	Q8N4B4	FBX39_HUMAN	A	253	ENSP00000321386:T253A	ENSP00000321386:T253A	T	+	1	0	FBXO39	6624668	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	3.481000	0.53179	2.188000	0.69820	0.528000	0.53228	ACC		0.537	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		G	6683944	A	G	6683944	3	3	49	1	0	0	0	0	1	0	0	0	5747	275	10	4	759	4	FBXO39	17	6683944	Missense_Mutation	SNP	A	TCGA-09-1673-01A-01W-0633-09		6683944	74511266	28	2313											
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	49	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-09-1673-01A-01W-0633-09	894462	7578406	73616804	29	2314											
CDK12	51755	genome.wustl.edu	37	17	37619352	37619384	+	Splice_Site	DEL	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	-	rs372721785		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:37619352_37619384delGTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	ENST00000447079.4	+	1	1061_1079	c.1028_1046delGTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	c.(1027-1047)agtcggagtccactccccagg>ag	p.SRSPLPR343del	CDK12_ENST00000430627.2_Splice_Site_p.SRSPLPR343del	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	343					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CGGTCTCTGAGTCGGAGTCCACTCCCCAGGTGAGCTATTTGTCTAACAGTCCT	0.536			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17																																								34872910	SO:0001630	splice_region_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1046+1GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC>-	17.37:g.37619352_37619384delGTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC			34872878	A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	CCDS11337.1																																																																																				0.536	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	In_Frame_Del	-	37619384	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	-	37619352	8	5	49	1	0	1	0	1	0	0	1	0	3128	1029	36	0	1030	0	CDK12	17	37619352	Splice_Site	DEL	GTCGGAGTCCACTCCCCAGGTGAGCTATTTGTC	TCGA-09-1673-01A-01W-0633-09	30040946	37619352	43575858	30	2315											
NGFR	4804	genome.wustl.edu	37	17	47583824	47583824	+	Silent	SNP	G	G	A	rs140228242		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:47583824G>A	ENST00000172229.3	+	3	497	c.372G>A	c.(370-372)gcG>gcA	p.A124A	NGFR_ENST00000504201.1_Silent_p.A30A|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	124					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCTGCGAGGCGTGCCGCGTGT	0.697																																																0			17						G		0,4384		0,0,2192	24	19	21		372	-4.3	1	17	dbSNP_134	21	1,8551		0,1,4275	no	coding-synonymous	NGFR	NM_002507.3		0,1,6467	AA,AG,GG		0.0117,0.0,0.0077		124/428	47583824	1,12935	2192	4276	6468	44938823	SO:0001819	synonymous_variant	4804			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.372G>A	17.37:g.47583824G>A			44938823	B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	CCDS11549.1																																																																																				0.697	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			A	47583824	G	A	47583824	2	1	49	1	0	0	0	0	0	0	0	1	10396	1132	40	1		1	NGFR	17	47583824	Silent	SNP	G	TCGA-09-1673-01A-01W-0633-09	9964472	47583824	33611386	31	2316											
CCDC46	201134	genome.wustl.edu	37	17	63739239	63739239	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:63739239T>G	ENST00000392769.2	-	23	2772	c.2554A>C	c.(2554-2556)Aag>Cag	p.K852Q	CEP112_ENST00000541355.1_Intron|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.K852Q|CEP112_ENST00000537949.1_Missense_Mutation_p.K810Q|CEP112_ENST00000317442.8_Missense_Mutation_p.K108Q	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	852					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCTTCAAACTTTTGTCTAACA	0.428																																																0			17											99	92	94					17																	63739239		2203	4300	6503	61169701	SO:0001583	missense	201134			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2554A>C	17.37:g.63739239T>G	ENSP00000376522:p.Lys852Gln		61169701	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	8.642	0.896128	0.17686	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000317442;ENST00000537949	T;T;T	0.48522	0.81;0.81;0.81	5.27	4.17	0.49024	.	0.381623	0.28284	N	0.015909	T	0.27798	0.0684	N	0.04959	-0.14	0.80722	D	1	B;B;B	0.30281	0.043;0.043;0.275	B;B;B	0.30572	0.047;0.047;0.117	T	0.09997	-1.0649	10	0.44086	T	0.13	-17.8875	12.3628	0.55213	0.0:0.0:0.2649:0.7351	.	810;852;108	F5GYE8;Q8N8E3;Q8N8E3-2	.;CE112_HUMAN;.	Q	852;852;108;810	ENSP00000442784:K852Q;ENSP00000376522:K852Q;ENSP00000440775:K810Q	ENSP00000320592:K108Q	K	-	1	0	CEP112	61169701	1.000000	0.71417	0.997000	0.53966	0.191000	0.23601	3.061000	0.49963	0.938000	0.37419	-0.636000	0.03981	AAG		0.428	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		G	63739239	T	G	63739239	3	3	49	1	0	0	0	0	1	0	0	0	2817	1850	64	5	333	5	CCDC46	17	63739239	Missense_Mutation	SNP	T	TCGA-09-1673-01A-01W-0633-09	16155415	63739239	17455971	32	2317											
TSPAN10	5148	genome.wustl.edu	37	17	79614951	79614951	+	IGR	SNP	C	C	T	rs79350765	byFrequency	TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr17:79614951C>T	ENST00000331056.5	-	0	1023				PDE6G_ENST00000574777.1_5'Flank|TSPAN10_ENST00000572675.1_RNA|TSPAN10_ENST00000328585.4_RNA	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma						activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	TGCAGCTCCCCCGGGGTGCAG	0.652													C|||	77	0.0153754	0.0038	0.0115	5008	,	,		13780	0		0.0547	False		,,,				2504	0.0092				GBM(189;38 2147 16440 40945 46567)											0			17						C	LEU/PRO	11,3945		0,11,1967	13	15	14		699	3.5	0.1	17	dbSNP_131	14	293,7971		8,277,3847	yes	missense	TSPAN10	NM_031945.3	98	8,288,5814	TT,TC,CC		3.5455,0.2781,2.4877	probably-damaging	232/356	79614951	304,11916	1978	4132	6110	77225356	SO:0001628	intergenic_variant	83882				CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"Phosphodiesterases"	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545			17.37:g.79614951C>T			77225356	Q3KP63|Q7Z3U8	Missense_Mutation	SNP	ENST00000331056.5	37	CCDS11783.1	49	0.022435897435897436	3	0.006097560975609756	5	0.013812154696132596	0	0.0	41	0.05408970976253298	C	16.05	3.012594	0.54468	0.002781	0.035455	ENSG00000182612	ENST00000328585	T	0.77620	-1.11	4.48	3.51	0.40186	Tetraspanin, EC2 domain (1);	0.140827	0.48767	N	0.000167	T	0.56834	0.2012	.	.	.	0.38326	D	0.943654	D	0.62365	0.991	D	0.66716	0.946	T	0.78516	-0.2174	9	0.72032	D	0.01	-15.7062	11.8247	0.52261	0.0:0.9134:0.0:0.0866	.	232	Q9H1Z9	TSN10_HUMAN	L	232	ENSP00000331620:P232L	ENSP00000331620:P232L	P	+	2	0	TSPAN10	77225356	0.757000	0.28394	0.050000	0.19076	0.253000	0.25986	3.859000	0.55987	1.084000	0.41184	0.655000	0.94253	CCC		0.652	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			T	79614951	C	T	79614951	1	4	49	0	1	0	0	0	0	0	0	0	16634	623	22	2		2	TSPAN10	17	79614951	IGR	SNP	C	TCGA-09-1673-01A-01W-0633-09	15875712	79614951	1580259	33	2318											
FAM38B	63895	genome.wustl.edu	37	18	10672706	10672706	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr18:10672706C>G	ENST00000503781.3	-	51	7986	c.7987G>C	c.(7987-7989)Ggg>Cgg	p.G2663R	PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G455R|PIEZO2_ENST00000302079.6_Missense_Mutation_p.G2600R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G620R|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2688R	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2663					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.G2663R(1)|p.G455R(1)									GCCAGGAACCCCAGACTTGGG	0.463																																																2	Substitution - Missense(2)	lung(2)	18											112	107	108					18																	10672706		2203	4300	6503	10662706	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7987G>C	18.37:g.10672706C>G	ENSP00000421377:p.Gly2663Arg		10662706	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.556150	0.86231	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.72282	-0.64;-0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.84606	0.5509	M	0.73598	2.24	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	T	0.82024	-0.0662	10	0.38643	T	0.18	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	557	D6RFZ0	.	R	557;2663;620;455	ENSP00000443129:G620R;ENSP00000285141:G455R	ENSP00000285141:G455R	G	-	1	0	FAM38B	10662706	1.000000	0.71417	0.992000	0.48379	0.936000	0.57629	7.742000	0.85008	2.894000	0.99253	0.655000	0.94253	GGG		0.463	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		G	10672706	C	G	10672706	3	3	49	1	0	0	0	0	1	0	0	0	5555	623	22	3	279	3	FAM38B	18	10672706	Missense_Mutation	SNP	C	TCGA-09-1673-01A-01W-0633-09		10672706	67404542	34	2319											
MRO	83876	genome.wustl.edu	37	18	48327833	48327833	+	Silent	SNP	C	C	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr18:48327833C>T	ENST00000428869.2	-	7	729	c.471G>A	c.(469-471)ggG>ggA	p.G157G	MRO_ENST00000588444.1_Intron|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000398439.3_Silent_p.G157G|MRO_ENST00000436348.2_Silent_p.G171G|MRO_ENST00000256425.2_Silent_p.G157G			Q9BYG7	MSTRO_HUMAN	maestro	157						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CAGCCAATTGCCCAAACAAAA	0.453																																																0			18											160	157	158					18																	48327833		2203	4300	6503	46581831	SO:0001819	synonymous_variant	83876			AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"maestro heat-like repeat containing"	24121	protein-coding gene	gene with protein product	"B29 protein", "beside the Ma29 deletion"	608080	"chromosome 18 open reading frame 3"	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.471G>A	18.37:g.48327833C>T			46581831	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Silent	SNP	ENST00000428869.2	37	CCDS11947.1																																																																																				0.453	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		T	48327833	C	T	48327833	2	4	49	1	0	0	0	0	0	0	0	1	9772	726	26	2		2	MRO	18	48327833	Silent	SNP	C	TCGA-09-1673-01A-01W-0633-09	37655127	48327833	29749415	35	2320											
ATP9B	374868	genome.wustl.edu	37	18	76936846	76936846	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr18:76936846G>T	ENST00000426216.2	+	8	829	c.812G>T	c.(811-813)gGt>gTt	p.G271V	ATP9B_ENST00000307671.7_Missense_Mutation_p.G271V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	271					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G271V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CAACTAGATGGTGAAACTGAC	0.453																																																1	Substitution - Missense(1)	lung(1)	18											107	103	105					18																	76936846		2203	4300	6503	75037834	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.812G>T	18.37:g.76936846G>T	ENSP00000398076:p.Gly271Val		75037834	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902124	0.92035	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.99311	-5.73;-5.73	5.66	5.66	0.87406	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97346	0.9960	10	0.87932	D	0	.	19.7403	0.96228	0.0:0.0:1.0:0.0	.	271;271	O43861;O43861-2	ATP9B_HUMAN;.	V	271	ENSP00000398076:G271V;ENSP00000304500:G271V	ENSP00000304500:G271V	G	+	2	0	ATP9B	75037834	1.000000	0.71417	0.964000	0.40570	0.995000	0.86356	8.857000	0.92250	2.652000	0.90054	0.655000	0.94253	GGT		0.453	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		T	76936846	G	T	76936846	3	4	49	1	0	0	0	0	1	0	0	0	1199	1261	44	3	842	3	ATP9B	18	76936846	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09	28609013	76936846	1140402	36	2321											
PDYN	5173	genome.wustl.edu	37	20	1961118	1961118	+	Missense_Mutation	SNP	G	G	A	rs575606358		TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chr20:1961118G>A	ENST00000217305.2	-	4	841	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	PDYN_ENST00000540134.1_Missense_Mutation_p.R206C|PDYN_ENST00000539905.1_Missense_Mutation_p.R206C|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	206					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCCCATAGCGTTTGTACAGG	0.592																																																0			20											104	114	111					20																	1961118		2203	4300	6503	1909118	SO:0001583	missense	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.616C>T	20.37:g.1961118G>A	ENSP00000217305:p.Arg206Cys		1909118	A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161588	0.78226	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.90620	-2.7;-2.7;-2.7	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96660	0.9488	10	0.87932	D	0	-19.7087	15.8394	0.78835	0.0:0.0:1.0:0.0	.	206	P01213	PDYN_HUMAN	C	206	ENSP00000440185:R206C;ENSP00000442259:R206C;ENSP00000217305:R206C	ENSP00000217305:R206C	R	-	1	0	PDYN	1909118	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.677000	0.61634	2.603000	0.88011	0.313000	0.20887	CGC		0.592	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			A	1961118	G	A	1961118	3	1	49	1	0	0	0	0	1	0	0	0	11699	1145	40	1	152	1	PDYN	20	1961118	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09		1961118	61064402	37	2322											
SCML2	10389	genome.wustl.edu	37	X	18264896	18264896	+	Silent	SNP	T	T	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:18264896T>C	ENST00000251900.4	-	13	1782	c.1623A>G	c.(1621-1623)tcA>tcG	p.S541S	SCML2_ENST00000398048.3_Silent_p.S277S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	541					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TAGAATCTTCTGAAAGATTCT	0.388																																					Esophageal Squamous(100;1252 1965 19021 35517)											0			X											83	90	88					X																	18264896		2203	4300	6503	18174817	SO:0001819	synonymous_variant	10389			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1623A>G	X.37:g.18264896T>C			18174817	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	T	5.018	0.189037	0.09547	.	.	ENSG00000102098	ENST00000420857	.	.	.	5.44	2.93	0.34026	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.43688	D	0.996136	.	.	.	.	.	.	T	0.49698	-0.8912	4	.	.	.	.	8.8514	0.35201	0.6838:0.0:0.0:0.3162	.	.	.	.	R	57	.	.	Q	-	2	0	SCML2	18174817	1.000000	0.71417	0.006000	0.13384	0.002000	0.02628	2.324000	0.43831	0.186000	0.20125	-0.400000	0.06385	CAG		0.388	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		C	18264896	T	C	18264896	2	2	49	1	0	0	0	0	0	0	0	1	13913	1567	55	4		4	SCML2	23	18264896	Silent	SNP	T	TCGA-09-1673-01A-01W-0633-09		18264896	137005664	38	2323											
FOXO4	4303	genome.wustl.edu	37	X	70320730	70320730	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:70320730C>T	ENST00000374259.3	+	2	982	c.650C>T	c.(649-651)tCt>tTt	p.S217F	FOXO4_ENST00000341558.3_Missense_Mutation_p.S162F	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	217					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AAGAAACCATCTGTGCTGCCA	0.647											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											21	22	22					X																	70320730		1949	4131	6080	70237455	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.650C>T	X.37:g.70320730C>T	ENSP00000363377:p.Ser217Phe	1121	70237455	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	C	1.374	-0.585340	0.03827	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95980	-3.66;-3.87	5.11	2.34	0.29019	.	0.854162	0.10218	N	0.701201	D	0.90587	0.7049	L	0.27053	0.805	0.09310	N	1	B;B;B	0.21225	0.012;0.053;0.012	B;B;B	0.23852	0.016;0.039;0.049	T	0.81810	-0.0762	10	0.54805	T	0.06	-36.4667	6.5062	0.22196	0.3198:0.5949:0.0:0.0853	.	217;162;217	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	F	217;162	ENSP00000363377:S217F;ENSP00000342209:S162F	ENSP00000342209:S162F	S	+	2	0	FOXO4	70237455	0.362000	0.24980	0.000000	0.03702	0.005000	0.04900	2.670000	0.46833	0.179000	0.19938	-0.372000	0.07161	TCT		0.647	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		T	70320730	C	T	70320730	3	4	49	1	0	0	0	0	1	0	0	0	6025	913	32	2	656	2	FOXO4	23	70320730	Missense_Mutation	SNP	C	TCGA-09-1673-01A-01W-0633-09	52055834	70320730	84949830	39	2324											
GUCY2F	2986	genome.wustl.edu	37	X	108636263	108636263	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:108636263T>C	ENST00000218006.2	-	13	2737	c.2446A>G	c.(2446-2448)Aag>Gag	p.K816E		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	816					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTGGTCTTCTTCCCTTTATTA	0.383																																																0			X											99	94	95					X																	108636263		2203	4300	6503	108522919	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2446A>G	X.37:g.108636263T>C	ENSP00000218006:p.Lys816Glu		108522919	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664619	0.67700	.	.	ENSG00000101890	ENST00000218006	T	0.61742	0.08	4.15	4.15	0.48705	Protein kinase-like domain (1);	0.213876	0.47093	N	0.000260	T	0.64011	0.2560	M	0.81239	2.535	0.50039	D	0.999843	B	0.32893	0.389	B	0.42959	0.403	T	0.63014	-0.6731	10	0.30078	T	0.28	.	10.516	0.44889	0.0:0.0:0.0:1.0	.	816	P51841	GUC2F_HUMAN	E	816	ENSP00000218006:K816E	ENSP00000218006:K816E	K	-	1	0	GUCY2F	108522919	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	4.004000	0.57068	1.845000	0.53610	0.417000	0.27973	AAG		0.383	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		C	108636263	T	C	108636263	3	2	49	1	0	0	0	0	1	0	0	0	6898	1792	62	4	908	4	GUCY2F	23	108636263	Missense_Mutation	SNP	T	TCGA-09-1673-01A-01W-0633-09	38315533	108636263	46634297	40	2325											
GLUD2	2747	genome.wustl.edu	37	X	120182075	120182078	+	Frame_Shift_Del	DEL	TGGG	TGGG	-			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	TGGG	TGGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:120182075_120182078delTGGG	ENST00000328078.1	+	1	614_617	c.537_540delTGGG	c.(535-540)tttgggfs	p.FG179fs		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	179					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ATGTGCCGTTTGGGGGTGCTAAAG	0.451																																																0			X																																								120009759	SO:0001589	frameshift_variant	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.537_540delTGGG	X.37:g.120182075_120182078delTGGG	ENSP00000327589:p.Phe179fs		120009756	B2R8G0|Q9UDQ4	Frame_Shift_Del	DEL	ENST00000328078.1	37	CCDS14603.1																																																																																				0.451	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		-	120182078	TGGG	-	120182075	7	5	49	1	0	1	0	1	0	0	0	0	6477	1809	63	0	539	0	GLUD2	23	120182075	Frame_Shift_Del	DEL	TGGG	TCGA-09-1673-01A-01W-0633-09	11545812	120182075	35088485	41	2326	4	2									
GLUD2	2747	genome.wustl.edu	37	X	120182079	120182079	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:120182079G>C	ENST00000328078.1	+	1	618	c.541G>C	c.(541-543)Ggt>Cgt	p.G181R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	181					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GCCGTTTGGGGGTGCTAAAGC	0.448																																																0			X											118	92	101					X																	120182079		2203	4300	6503	120009760	SO:0001583	missense	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.541G>C	X.37:g.120182079G>C	ENSP00000327589:p.Gly181Arg		120009760	B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053042	0.36181	.	.	ENSG00000182890	ENST00000328078	D	0.99637	-6.29	1.62	1.62	0.23740	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97294	0.9926	10	0.87932	D	0	.	8.8196	0.35018	0.0:0.0:1.0:0.0	.	181	P49448	DHE4_HUMAN	R	181	ENSP00000327589:G181R	ENSP00000327589:G181R	G	+	1	0	GLUD2	120009760	1.000000	0.71417	0.570000	0.28473	0.138000	0.21146	4.523000	0.60545	1.139000	0.42245	0.472000	0.43445	GGT		0.448	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		C	120182079	G	C	120182079	3	2	49	1	0	0	0	0	1	0	0	0	6477	1232	43	3	543	3	GLUD2	23	120182079	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09	4	120182079	35088481	42	2327	4	2									
ENOX2	10495	genome.wustl.edu	37	X	129762011	129762011	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:129762011A>C	ENST00000370927.1	-	12	1643	c.1622T>G	c.(1621-1623)aTc>aGc	p.I541S	ENOX2_ENST00000370935.1_Missense_Mutation_p.I512S|ENOX2_ENST00000394363.1_Missense_Mutation_p.I512S|ENOX2_ENST00000338144.3_Missense_Mutation_p.I541S			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	541					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GAATGTGGAGATAATCCCTAC	0.423																																					Ovarian(101;828 1506 2951 9500 35258)											0			X											228	192	204					X																	129762011		2203	4300	6503	129589692	SO:0001583	missense	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1622T>G	X.37:g.129762011A>C	ENSP00000359965:p.Ile541Ser		129589692	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978535	0.74360	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	M	0.74881	2.28	0.51482	D	0.999925	P;P	0.51653	0.899;0.947	P;P	0.50934	0.504;0.654	T	0.66779	-0.5837	8	.	.	.	-12.1703	9.705	0.40209	1.0:0.0:0.0:0.0	.	541;569	Q16206;A4QPE1	ENOX2_HUMAN;.	S	512;541;512;569;541	.	.	I	-	2	0	ENOX2	129589692	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.148000	0.89630	1.814000	0.52955	0.486000	0.48141	ATC		0.423	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		C	129762011	A	C	129762011	3	2	49	1	0	0	0	0	1	0	0	0	5127	333	12	5	218	5	ENOX2	23	129762011	Missense_Mutation	SNP	A	TCGA-09-1673-01A-01W-0633-09	9579932	129762011	25508549	43	2328											
FMR1	2332	genome.wustl.edu	37	X	147030282	147030282	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1673-01A-01W-0633-09	TCGA-09-1673-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5a9e62ac-f098-418d-b84b-ddb219fc2971	3a066fa6-7430-405f-958e-7713c124c285	g.chrX:147030282G>A	ENST00000370475.4	+	17	1945	c.1817G>A	c.(1816-1818)cGc>cAc	p.R606H	FMR1_ENST00000370471.3_Missense_Mutation_p.A516T|FMR1_ENST00000370470.1_Missense_Mutation_p.R564H|FMR1_ENST00000218200.8_Missense_Mutation_p.R585H|FMR1_ENST00000439526.2_Missense_Mutation_p.R566H|FMR1_ENST00000370477.1_Missense_Mutation_p.R556H|FMR1_ENST00000440235.2_Missense_Mutation_p.R236H|FMR1-IT1_ENST00000441414.1_RNA	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	606	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCGGCTGCGCACGGGTAAA	0.433									Fragile X syndrome																																							0			X											131	111	118					X																	147030282		2203	4300	6503	146837974	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1817G>A	X.37:g.147030282G>A	ENSP00000359506:p.Arg606His		146837974	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.906801|4.906801	0.92107|0.92107	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000370471|ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T|T;T;T;T;T;T	0.59083|0.60672	0.29|0.22;1.05;0.17;1.01;0.9;1.25	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64371|0.64371	0.2592|0.2592	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D	.|0.89917	.|1.0;0.53;1.0;1.0;1.0	.|D;B;D;D;D	.|0.83275	.|0.996;0.111;0.964;0.952;0.996	T|T	0.65701|0.65701	-0.6104|-0.6104	7|10	0.87932|0.42905	D|T	0|0.14	-20.0256|-20.0256	17.7573|17.7573	0.88453|0.88453	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236;606;501;560;566	.|F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.|.;FMR1_HUMAN;.;.;.	T|H	516|585;556;606;566;564;236	ENSP00000359502:A516T|ENSP00000218200:R585H;ENSP00000359508:R556H;ENSP00000359506:R606H;ENSP00000395923:R566H;ENSP00000359501:R564H;ENSP00000413764:R236H	ENSP00000359502:A516T|ENSP00000218200:R585H	A|R	+|+	1|2	0|0	FMR1|FMR1	146837974|146837974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.686000|7.686000	0.84128|0.84128	2.499000|2.499000	0.84300|0.84300	0.594000|0.594000	0.82650|0.82650	GCA|CGC		0.433	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		A	147030282	G	A	147030282	3	1	49	1	0	0	0	0	1	0	0	0	5960	1087	38	1	1883	1	FMR1	23	147030282	Missense_Mutation	SNP	G	TCGA-09-1673-01A-01W-0633-09	17268271	147030282	8240278	44	2329											
TARDBP	23435	genome.wustl.edu	37	1	11082199	11082199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:11082199G>T	ENST00000240185.3	+	6	847	c.733G>T	c.(733-735)Gga>Tga	p.G245*	TARDBP_ENST00000439080.2_Nonsense_Mutation_p.G129*|TARDBP_ENST00000315091.3_Nonsense_Mutation_p.G245*	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	245	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GTCTCTTTGTGGAGAGGACTT	0.348																																																0			1											86	84	84					1																	11082199		2203	4300	6503	11004786	SO:0001587	stop_gained	23435			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.733G>T	1.37:g.11082199G>T	ENSP00000240185:p.Gly245*		11004786	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Nonsense_Mutation	SNP	ENST00000240185.3	37	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	40	8.295597	0.98747	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-15.9611	20.0825	0.97783	0.0:0.0:1.0:0.0	.	.	.	.	X	245;129;245	.	ENSP00000240185:G245X	G	+	1	0	TARDBP	11004786	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.631000	0.98424	2.746000	0.94184	0.655000	0.94253	GGA		0.348	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		T	11082199	G	T	11082199	4	4	50	1	0	0	0	0	0	1	0	0	15557	1349	47	3	751	3	TARDBP	1	11082199	Nonsense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09		11082199	238168422	1	2330											
CELA2A	63036	genome.wustl.edu	37	1	15783628	15783628	+	Missense_Mutation	SNP	G	G	T	rs371703213		TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:15783628G>T	ENST00000359621.4	+	2	113	c.88G>T	c.(88-90)Gtt>Ttt	p.V30F	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	30	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GACTAGGGTGGTTGGCGGTGA	0.567																																																0			1											106	98	101					1																	15783628		2203	4300	6503	15656215	SO:0001583	missense	63036				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.88G>T	1.37:g.15783628G>T	ENSP00000352639:p.Val30Phe		15656215	B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	CCDS157.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361176	0.82353	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.94497	-3.44	4.28	4.28	0.50868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.44483	U	0.000443	D	0.96947	0.9003	M	0.82056	2.57	0.54753	D	0.999988	D	0.71674	0.998	D	0.77004	0.989	D	0.97415	1.0005	10	0.87932	D	0	.	14.6524	0.68808	0.0:0.0:1.0:0.0	.	30	P08217	CEL2A_HUMAN	F	30	ENSP00000352639:V30F	ENSP00000352639:V30F	V	+	1	0	CELA2A	15656215	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.525000	0.53502	2.383000	0.81215	0.650000	0.86243	GTT		0.567	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		T	15783628	G	T	15783628	3	4	50	1	0	0	0	0	1	0	0	0	3211	1261	44	3	94	3	CELA2A	1	15783628	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	4701429	15783628	233466993	2	2331											
MRTO4	51154	genome.wustl.edu	37	1	19584004	19584005	+	Frame_Shift_Del	DEL	GG	GG	-	rs1042380	byFrequency	TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	GG	GG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:19584004_19584005delGG	ENST00000330263.4	+	5	627_628	c.330_331delGG	c.(328-333)gaggagfs	p.EE110fs		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	110					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCACAAAGGAGGAGGTGAATGA	0.525																																					GBM(192;2418 3032 7540 48714)											0			1																																								19456592	SO:0001589	frameshift_variant	51154			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.330_331delGG	1.37:g.19584004_19584005delGG	ENSP00000364320:p.Glu110fs		19456591	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Frame_Shift_Del	DEL	ENST00000330263.4	37	CCDS191.1																																																																																				0.525	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		-	19584005	GG	-	19584004	7	5	50	1	0	1	0	1	0	0	0	0	9852	991	35	0	348	0	MRTO4	1	19584004	Frame_Shift_Del	DEL	GG	TCGA-09-1674-01A-01W-0633-09	3800376	19584004	229666617	3	2332	5	2									
MRTO4	51154	genome.wustl.edu	37	1	19584008	19584008	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:19584008G>A	ENST00000330263.4	+	5	631	c.334G>A	c.(334-336)Gtg>Atg	p.V112M		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	112					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGAGGAGGTGAATGAGTA	0.522																																					GBM(192;2418 3032 7540 48714)											0			1											142	137	139					1																	19584008		2203	4300	6503	19456595	SO:0001583	missense	51154			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.334G>A	1.37:g.19584008G>A	ENSP00000364320:p.Val112Met		19456595	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804402	0.90623	.	.	ENSG00000053372	ENST00000330263	T	0.49720	0.77	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.82240	-0.0555	10	0.87932	D	0	-28.3833	18.6692	0.91504	0.0:0.0:1.0:0.0	.	112	Q9UKD2	MRT4_HUMAN	M	112	ENSP00000364320:V112M	ENSP00000364320:V112M	V	+	1	0	MRTO4	19456595	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	8.524000	0.90579	2.757000	0.94681	0.655000	0.94253	GTG		0.522	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		A	19584008	G	A	19584008	3	1	50	1	0	0	0	0	1	0	0	0	9852	1261	44	2	352	2	MRTO4	1	19584008	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	4	19584008	229666613	4	2333	5	2									
PRKAB2	5565	genome.wustl.edu	37	1	146634112	146634112	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:146634112C>T	ENST00000254101.3	-	6	717	c.579G>A	c.(577-579)atG>atA	p.M193I	PRKAB2_ENST00000425272.2_Missense_Mutation_p.M111I|PRKAB2_ENST00000496858.1_5'Flank	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	193					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GAAACGCATACATTTCTTGAC	0.388																																																0			1											91	89	89					1																	146634112		2203	4300	6503	145100736	SO:0001583	missense	5565			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"AMPK beta 2"	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.579G>A	1.37:g.146634112C>T	ENSP00000254101:p.Met193Ile		145100736	A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	ENST00000254101.3	37	CCDS925.1	.	.	.	.	.	.	.	.	.	.	C	8.485	0.860634	0.17178	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.76	5.76	0.90799	.	0.099352	0.64402	D	0.000001	T	0.09291	0.0229	N	0.01446	-0.86	0.42614	D	0.993323	B;B	0.06786	0.0;0.001	B;B	0.10450	0.003;0.005	T	0.30880	-0.9963	9	0.06625	T	0.88	-0.3105	10.8278	0.46643	0.0:0.9146:0.0:0.0854	.	111;193	B4DH06;O43741	.;AAKB2_HUMAN	I	193;111	.	ENSP00000254101:M193I	M	-	3	0	PRKAB2	145100736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.952000	0.40343	2.721000	0.93114	0.563000	0.77884	ATG		0.388	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399		T	146634112	C	T	146634112	3	4	50	1	0	0	0	0	1	0	0	0	12499	478	17	2	251	2	PRKAB2	1	146634112	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	127050104	146634112	102616509	5	2334											
RPTN	126638	genome.wustl.edu	37	1	152128184	152128184	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:152128184C>A	ENST00000316073.3	-	3	1455	c.1391G>T	c.(1390-1392)gGt>gTt	p.G464V		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	464	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTCTGTCTGACCATAGTGGGA	0.507																																																0			1											787	696	723					1																	152128184		1568	3582	5150	150394808	SO:0001583	missense	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1391G>T	1.37:g.152128184C>A	ENSP00000317895:p.Gly464Val		150394808	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	c	16.20	3.056178	0.55325	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.20738	2.05	5.32	3.44	0.39384	.	.	.	.	.	T	0.28896	0.0717	M	0.88031	2.925	0.37304	D	0.90882	D	0.59767	0.986	P	0.53450	0.726	T	0.28870	-1.0030	9	0.72032	D	0.01	-0.2689	9.8109	0.40822	0.0:0.8295:0.0:0.1705	.	464	Q6XPR3	RPTN_HUMAN	V	464;119	ENSP00000317895:G464V	ENSP00000317895:G464V	G	-	2	0	RPTN	150394808	0.000000	0.05858	0.060000	0.19600	0.024000	0.10985	0.644000	0.24766	0.615000	0.30124	0.498000	0.49722	GGT		0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		A	152128184	C	A	152128184	3	1	50	1	0	0	0	0	1	0	0	0	13667	507	18	3	967	3	RPTN	1	152128184	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	5494072	152128184	97122437	6	2335											
FAM78B	149297	genome.wustl.edu	37	1	166039858	166039858	+	Missense_Mutation	SNP	C	C	T	rs368578294		TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:166039858C>T	ENST00000338353.3	-	3	995	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	FAM78B_ENST00000354422.3_Missense_Mutation_p.V136I			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	136								p.V136I(2)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TTCATGCTGACGGAGAACCTG	0.522																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|endometrium(1)	1						C	ILE/VAL	0,4406		0,0,2203	187	165	173		406	5.5	1	1		173	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM78B	NM_001017961.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	136/262	166039858	1,13005	2203	4300	6503	164306482	SO:0001583	missense	149297			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.406G>A	1.37:g.166039858C>T	ENSP00000339681:p.Val136Ile		164306482	B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754252	0.31046	0.0	1.16E-4	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	L	0.43152	1.355	0.45718	D	0.998625	B	0.31581	0.329	B	0.26969	0.075	T	0.23547	-1.0185	8	0.05833	T	0.94	-0.6844	17.3458	0.87309	0.0:1.0:0.0:0.0	.	136	Q5VT40	FA78B_HUMAN	I	136	.	ENSP00000339681:V136I	V	-	1	0	FAM78B	164306482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.921000	0.70028	2.758000	0.94735	0.655000	0.94253	GTC		0.522	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		T	166039858	C	T	166039858	3	4	50	1	0	0	0	0	1	0	0	0	5627	536	19	1	383	1	FAM78B	1	166039858	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	13911674	166039858	83210763	7	2336											
C1orf114	57821	genome.wustl.edu	37	1	169388255	169388255	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:169388255C>T	ENST00000367806.3	-	4	1363	c.1211G>A	c.(1210-1212)aGt>aAt	p.S404N	CCDC181_ENST00000545005.1_Missense_Mutation_p.S404N|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.S404N	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	404						nucleus (GO:0005634)											ACTTACTCTACTGTTCATGTC	0.358																																																0			1											158	153	155					1																	169388255		2203	4299	6502	167654879	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1211G>A	1.37:g.169388255C>T	ENSP00000356780:p.Ser404Asn		167654879	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	C	14.79	2.639789	0.47153	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005	T;T;T	0.24538	1.86;1.85;1.86	6.02	4.17	0.49024	.	0.193036	0.53938	D	0.000050	T	0.08891	0.0220	L	0.43701	1.375	0.29468	N	0.857253	B;B;B	0.27140	0.169;0.026;0.026	B;B;B	0.25140	0.058;0.04;0.04	T	0.09271	-1.0682	9	0.45353	T	0.12	-4.92	7.5454	0.27764	0.1356:0.7369:0.0:0.1275	.	404;404;404	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	N	404	ENSP00000356779:S404N;ENSP00000356780:S404N;ENSP00000442297:S404N	ENSP00000356779:S404N	S	-	2	0	C1orf114	167654879	0.272000	0.24172	0.996000	0.52242	0.991000	0.79684	0.179000	0.16840	0.880000	0.35969	0.650000	0.86243	AGT		0.358	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		T	169388255	C	T	169388255	3	4	50	1	0	0	0	0	1	0	0	0	1987	565	20	2	327	2	C1orf114	1	169388255	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	3348397	169388255	79862366	8	2337											
FAM5B	57795	genome.wustl.edu	37	1	177249882	177249882	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:177249882C>T	ENST00000361539.4	+	8	1882	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	524					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GCAGGATAGCCGCATTGAGGT	0.567																																																0			1											42	38	39					1																	177249882		2203	4300	6503	175516505	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1570C>T	1.37:g.177249882C>T	ENSP00000354481:p.Arg524Cys		175516505	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761732	0.49468	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.56776	0.44	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.75789	-0.3194	10	0.87932	D	0	-20.1931	13.6412	0.62253	0.1549:0.8451:0.0:0.0	.	419;524	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	C	277;524	ENSP00000354481:R524C	ENSP00000354481:R524C	R	+	1	0	FAM5B	175516505	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.100000	0.50275	2.514000	0.84764	0.313000	0.20887	CGC		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		T	177249882	C	T	177249882	3	4	50	1	0	0	0	0	1	0	0	0	5593	652	23	1	1596	1	FAM5B	1	177249882	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	7861627	177249882	72000739	9	2338											
SEC16B	89866	genome.wustl.edu	37	1	177901862	177901862	+	Missense_Mutation	SNP	G	G	A	rs376044643		TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:177901862G>A	ENST00000308284.6	-	23	2992	c.2903C>T	c.(2902-2904)cCg>cTg	p.P968L	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	968					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACTAACATCCGGCAGAGGTGG	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		16584	0		0	False		,,,				2504	0															0			1						G	LEU/PRO	0,3992		0,0,1996	37	44	42		2903	-0.6	0	1		42	1,8321		0,1,4160	no	missense	SEC16B	NM_033127.2	98	0,1,6156	AA,AG,GG		0.012,0.0,0.0081	benign	968/1061	177901862	1,12313	1996	4161	6157	176168485	SO:0001583	missense	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2903C>T	1.37:g.177901862G>A	ENSP00000308339:p.Pro968Leu		176168485	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	9.096	1.003041	0.19121	0.0	1.2E-4	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.15487	2.42	4.47	-0.6	0.11642	.	0.939877	0.08980	N	0.865948	T	0.09291	0.0229	N	0.17474	0.49	0.09310	N	1	B;B;B	0.18310	0.026;0.027;0.026	B;B;B	0.10450	0.005;0.003;0.005	T	0.40117	-0.9580	10	0.23891	T	0.37	-0.482	7.1344	0.25521	0.5175:0.0:0.4825:0.0	.	969;968;665	B1AM08;Q96JE7;Q96PW0	.;SC16B_HUMAN;.	L	968;653;684	ENSP00000308339:P968L	ENSP00000239472:P684L	P	-	2	0	AL359075.1	176168485	0.000000	0.05858	0.029000	0.17559	0.001000	0.01503	-0.272000	0.08560	0.009000	0.14813	-0.373000	0.07131	CCG		0.622	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		A	177901862	G	A	177901862	3	1	50	1	0	0	0	0	1	0	0	0	13990	1116	39	1	295	1	SEC16B	1	177901862	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	651980	177901862	71348759	10	2339											
NPHS2	7827	genome.wustl.edu	37	1	179526170	179526170	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:179526170C>G	ENST00000367615.4	-	5	798	c.730G>C	c.(730-732)Gat>Cat	p.D244H	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	244					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						ACCTTTGCATCTTGGGCGATG	0.373																																																0			1											78	68	71					1																	179526170		2203	4300	6503	177792793	SO:0001583	missense	7827			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.730G>C	1.37:g.179526170C>G	ENSP00000356587:p.Asp244His		177792793	B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089854	0.55968	.	.	ENSG00000116218	ENST00000367615	D	0.94723	-3.5	5.93	5.93	0.95920	Band 7/stomatin-like, conserved site (1);	0.118857	0.64402	D	0.000018	D	0.92368	0.7578	L	0.33753	1.03	0.80722	D	1	B	0.26547	0.152	B	0.33121	0.158	D	0.89081	0.3476	10	0.49607	T	0.09	-20.209	18.9177	0.92512	0.0:1.0:0.0:0.0	.	244	Q9NP85	PODO_HUMAN	H	244	ENSP00000356587:D244H	ENSP00000356587:D244H	D	-	1	0	NPHS2	177792793	1.000000	0.71417	0.994000	0.49952	0.817000	0.46193	3.464000	0.53057	2.826000	0.97356	0.655000	0.94253	GAT		0.373	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			G	179526170	C	G	179526170	3	3	50	1	0	0	0	0	1	0	0	0	10583	913	32	3	437	3	NPHS2	1	179526170	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	1624308	179526170	69724451	11	2340											
LAMC1	3915	genome.wustl.edu	37	1	183079714	183079714	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:183079714T>A	ENST00000258341.4	+	4	1203	c.946T>A	c.(946-948)Tgt>Agt	p.C316S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	316	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGGAGTAGACTGTGAAAAGTG	0.478																																																0			1											192	187	188					1																	183079714		2203	4300	6503	181346337	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.946T>A	1.37:g.183079714T>A	ENSP00000258341:p.Cys316Ser		181346337	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.947147	0.92593	.	.	ENSG00000135862	ENST00000258341	D	0.97791	-4.54	4.87	4.87	0.63330	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98336	1.0536	10	0.87932	D	0	.	14.4557	0.67416	0.0:0.0:0.0:1.0	.	316	P11047	LAMC1_HUMAN	S	316	ENSP00000258341:C316S	ENSP00000258341:C316S	C	+	1	0	LAMC1	181346337	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.743000	0.85020	1.815000	0.52974	0.254000	0.18369	TGT		0.478	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		A	183079714	T	A	183079714	3	1	50	1	0	0	0	0	1	0	0	0	8614	1580	55	5	960	5	LAMC1	1	183079714	Missense_Mutation	SNP	T	TCGA-09-1674-01A-01W-0633-09	3553544	183079714	66170907	12	2341											
IPO9	55705	genome.wustl.edu	37	1	201817578	201817578	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:201817578G>A	ENST00000361565.4	+	4	439	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	124					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GATAAGCAAAGTGCGCTCCAG	0.488																																																0			1											131	114	120					1																	201817578		2203	4300	6503	200084201	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.370G>A	1.37:g.201817578G>A	ENSP00000354742:p.Val124Met		200084201	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551062	0.86127	.	.	ENSG00000198700	ENST00000361565	T	0.73152	-0.72	6.02	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.105080	0.64402	D	0.000004	T	0.76506	0.3997	L	0.39898	1.24	0.80722	D	1	D	0.65815	0.995	D	0.65773	0.938	T	0.78277	-0.2266	10	0.62326	D	0.03	-5.2101	12.834	0.57763	0.0781:0.0:0.9219:0.0	.	124	Q96P70	IPO9_HUMAN	M	124	ENSP00000354742:V124M	ENSP00000354742:V124M	V	+	1	0	IPO9	200084201	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.757000	0.98924	1.552000	0.49463	0.650000	0.86243	GTG		0.488	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		A	201817578	G	A	201817578	3	1	50	1	0	0	0	0	1	0	0	0	7799	1029	36	2	384	2	IPO9	1	201817578	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	18737864	201817578	47433043	13	2342											
CR1	1378	genome.wustl.edu	37	1	207785131	207785131	+	Silent	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:207785131C>A	ENST00000367049.4	+	38	6405	c.6405C>A	c.(6403-6405)ctC>ctA	p.L2135L	CR1_ENST00000367051.1_Silent_p.L1685L|CR1_ENST00000367053.1_Silent_p.L1685L|CR1_ENST00000367052.1_Silent_p.L1685L|CR1_ENST00000400960.2_Silent_p.L1685L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1685					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTATGACCTCAGAGGGGCTG	0.572																																																0			1											120	121	120					1																	207785131		1943	4145	6088	205851754	SO:0001819	synonymous_variant	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6405C>A	1.37:g.207785131C>A			205851754	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																				0.572	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		A	207785131	C	A	207785131	2	1	50	1	0	0	0	0	0	0	0	1	3840	813	29	3		3	CR1	1	207785131	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09	5967553	207785131	41465490	14	2343											
KIAA1383	54627	genome.wustl.edu	37	1	232942775	232942775	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:232942775G>C	ENST00000418460.1	+	1	2133	c.2006G>C	c.(2005-2007)aGa>aCa	p.R669T		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	527					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TATAGAAAAAGACAATCACAA	0.353																																																0			1											41	40	40					1																	232942775		1826	4088	5914	231009398	SO:0001583	missense	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2006G>C	1.37:g.232942775G>C	ENSP00000403208:p.Arg669Thr		231009398	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	0.218	-1.031004	0.02029	.	.	ENSG00000212916	ENST00000418460	.	.	.	6.08	-6.82	0.01698	.	1.198800	0.06715	N	0.773884	T	0.07143	0.0181	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28364	-1.0046	9	0.09590	T	0.72	-0.9473	0.895	0.01262	0.3191:0.3072:0.1693:0.2044	.	527	Q9P2G4	K1383_HUMAN	T	669	.	ENSP00000403208:R669T	R	+	2	0	KIAA1383	231009398	0.992000	0.36948	0.028000	0.17463	0.002000	0.02628	0.204000	0.17335	-0.750000	0.04740	-0.930000	0.02707	AGA		0.353	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		C	232942775	G	C	232942775	3	2	50	1	0	0	0	0	1	0	0	0	8228	942	33	3	2008	3	KIAA1383	1	232942775	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	25157644	232942775	16307846	15	2344											
FMN2	56776	genome.wustl.edu	37	1	240286639	240286639	+	Silent	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:240286639G>A	ENST00000319653.9	+	2	2006	c.1776G>A	c.(1774-1776)tcG>tcA	p.S592S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	592					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATGCAGCTTCGTTTGATGTAA	0.448																																																0			1											110	97	102					1																	240286639		2203	4300	6503	238353262	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1776G>A	1.37:g.240286639G>A			238353262	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.448	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240286639	G	A	240286639	2	1	50	1	0	0	0	0	0	0	0	1	5950	1132	40	1		1	FMN2	1	240286639	Silent	SNP	G	TCGA-09-1674-01A-01W-0633-09	7343864	240286639	8963982	16	2345											
PPPDE1	51029	genome.wustl.edu	37	1	244852607	244852607	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr1:244852607G>A	ENST00000302550.11	+	3	551	c.172G>A	c.(172-174)Gga>Aga	p.G58R	DESI2_ENST00000263831.7_Intron	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	58	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										AATTTCCCCAGGAAATGCTTC	0.333																																																0			1											86	95	92					1																	244852607		2203	4296	6499	242919230	SO:0001583	missense	51029			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"chromosome 1 open reading frame 121", "family with sequence similarity 152, member A", "PPPDE peptidase domain containing 1"	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.172G>A	1.37:g.244852607G>A	ENSP00000306528:p.Gly58Arg		242919230	B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	ENST00000302550.11	37	CCDS1626.1	.	.	.	.	.	.	.	.	.	.	G	8.996	0.979021	0.18812	.	.	ENSG00000121644	ENST00000302550;ENST00000418162	.	.	.	6.17	6.17	0.99709	Domain of unknown function DUF862, eukaryotic (1);	0.088104	0.85682	D	0.000000	T	0.36026	0.0952	N	0.03967	-0.31	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.38112	-0.9676	9	0.07175	T	0.84	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	58	Q9BSY9	PPDE1_HUMAN	R	58;75	.	ENSP00000306528:G58R	G	+	1	0	PPPDE1	242919230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.133000	0.77259	2.941000	0.99782	0.655000	0.94253	GGA		0.333	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1	NM_016076		A	244852607	G	A	244852607	3	1	50	1	0	0	0	0	1	0	0	0	12411	1001	35	2	182	2	PPPDE1	1	244852607	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	4565968	244852607	4398014	17	2346											
NBAS	51594	genome.wustl.edu	37	2	15416994	15416994	+	Silent	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:15416994C>T	ENST00000281513.5	-	43	5395	c.5370G>A	c.(5368-5370)aaG>aaA	p.K1790K	NBAS_ENST00000441750.1_Silent_p.K1670K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1790					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAACCTTAAACTTCTTCAGCA	0.398																																																0			2											91	84	86					2																	15416994		2203	4300	6503	15334445	SO:0001819	synonymous_variant	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5370G>A	2.37:g.15416994C>T			15334445	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	8.090	0.774214	0.16051	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.61	-5.75	0.02384	.	.	.	.	.	T	0.66446	0.2790	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68911	-0.5284	4	.	.	.	.	18.036	0.89302	0.0:0.6314:0.0:0.3686	.	.	.	.	N	838	.	.	S	-	2	0	NBAS	15334445	0.981000	0.34729	0.834000	0.33040	0.926000	0.56050	0.123000	0.15708	-0.930000	0.03752	-0.290000	0.09829	AGT		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15416994	C	T	15416994	2	4	50	1	0	0	0	0	0	0	0	1	10186	564	20	2		2	NBAS	2	15416994	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09		15416994	227782379	18	2347											
RDH14	57665	genome.wustl.edu	37	2	18737012	18737012	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:18737012C>G	ENST00000381249.3	-	2	563	c.456G>C	c.(454-456)aaG>aaC	p.K152N	NT5C1B-RDH14_ENST00000532967.1_3'UTR|RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	152					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	CATCTTCAGTCTTCATGTAAG	0.448																																																0			2											120	129	126					2																	18737012		2202	4299	6501	18600493	SO:0001583	missense	57665			AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19979	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 4"		"retinol dehydrogenase 14 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.456G>C	2.37:g.18737012C>G	ENSP00000370648:p.Lys152Asn		18600493		Missense_Mutation	SNP	ENST00000381249.3	37	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801338	0.70567	.	.	ENSG00000240857;ENSG00000250741	ENST00000381249;ENST00000444297	D;T	0.87571	-2.27;1.97	5.45	3.66	0.41972	NAD(P)-binding domain (1);	.	.	.	.	D	0.89801	0.6820	L	0.46741	1.465	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.66847	0.934;0.947	D	0.89092	0.3483	9	0.59425	D	0.04	.	12.2208	0.54433	0.0:0.8613:0.0:0.1387	.	466;152	C9J2C7;Q9HBH5	.;RDH14_HUMAN	N	152;466	ENSP00000370648:K152N;ENSP00000412639:K466N	ENSP00000412639:K466N	K	-	3	2	NT5C1B-RDH14;RDH14	18600493	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	2.125000	0.42016	0.684000	0.31448	0.655000	0.94253	AAG		0.448	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			G	18737012	C	G	18737012	3	3	50	1	0	0	0	0	1	0	0	0	13196	912	32	3	558	3	RDH14	2	18737012	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	3320018	18737012	224462361	19	2348											
NCOA1	8648	genome.wustl.edu	37	2	24985627	24985628	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	AG	AG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:24985627_24985628delAG	ENST00000406961.1	+	22	4789_4790	c.4137_4138delAG	c.(4135-4140)acagaafs	p.E1380fs	NCOA1_ENST00000395856.3_Frame_Shift_Del_p.E1380fs|NCOA1_ENST00000538539.1_Frame_Shift_Del_p.E1380fs|NCOA1_ENST00000407230.1_Frame_Shift_Del_p.E1229fs|NCOA1_ENST00000348332.3_Frame_Shift_Del_p.E1380fs|NCOA1_ENST00000405141.1_Frame_Shift_Del_p.E1380fs|NCOA1_ENST00000288599.5_Frame_Shift_Del_p.E1380fs			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1380					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCAAAACAGAAGCAGATGG	0.426			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0			2																																								24839132	SO:0001589	frameshift_variant	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4137_4138delAG	2.37:g.24985627_24985628delAG	ENSP00000385216:p.Glu1380fs		24839131	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Frame_Shift_Del	DEL	ENST00000406961.1	37	CCDS1712.1																																																																																				0.426	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		-	24985628	AG	-	24985627	7	5	50	1	0	1	0	1	0	0	0	0	10228	175	7	0	4207	0	NCOA1	2	24985627	Frame_Shift_Del	DEL	AG	TCGA-09-1674-01A-01W-0633-09	6248615	24985627	218213746	20	2349											
CALM2	805	genome.wustl.edu	37	2	47389427	47389427	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:47389427T>C	ENST00000272298.7	-	4	440	c.283A>G	c.(283-285)Aag>Gag	p.K95E	CALM2_ENST00000409563.1_Missense_Mutation_p.K142E|RP11-761B3.1_ENST00000422269.1_Intron|CALM2_ENST00000484408.1_5'UTR	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	95	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TGACGTACCTTATCAAACACA	0.343																																																2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2											94	85	88					2																	47389427		2203	4300	6503	47242931	SO:0001583	missense	805				CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"EF-hand domain containing", "Endogenous ligands"	1445	protein-coding gene	gene with protein product	"prepro-calmodulin 2"	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.283A>G	2.37:g.47389427T>C	ENSP00000272298:p.Lys95Glu		47242931	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000272298.7	37	CCDS1832.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308178	0.81247	.	.	ENSG00000143933	ENST00000272298;ENST00000456319;ENST00000409563	D;D;D	0.88431	-2.38;-2.38;-2.38	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94059	0.7325	7	0.87932	D	0	.	15.6637	0.77209	0.0:0.0:0.0:1.0	.	.	.	.	E	95;133;142	ENSP00000272298:K95E;ENSP00000411440:K133E;ENSP00000387065:K142E	ENSP00000272298:K95E	K	-	1	0	CALM2	47242931	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.766000	0.85320	2.176000	0.68965	0.482000	0.46254	AAG		0.343	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250789.3	NM_001743		C	47389427	T	C	47389427	3	2	50	1	0	0	0	0	1	0	0	0	2585	1763	61	4	178	4	CALM2	2	47389427	Missense_Mutation	SNP	T	TCGA-09-1674-01A-01W-0633-09	22403800	47389427	195809946	21	2350											
KLRAQ1	129285	genome.wustl.edu	37	2	48701829	48701829	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:48701829G>A	ENST00000294952.8	+	12	1253	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	PPP1R21_ENST00000281394.4_Missense_Mutation_p.E366K|PPP1R21_ENST00000449090.2_Missense_Mutation_p.E366K	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	366						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TAGTTTAGAAGAAGAATGTGA	0.403																																																0			2											119	112	114					2																	48701829		2203	4300	6503	48555333	SO:0001583	missense	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1096G>A	2.37:g.48701829G>A	ENSP00000294952:p.Glu366Lys		48555333	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144598	0.94603	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.85130	0.996;0.996;0.994;0.997	T	0.72544	-0.4261	9	0.25751	T	0.34	-16.6306	19.0557	0.93064	0.0:0.0:1.0:0.0	.	366;366;366;366	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	K	366	.	ENSP00000281394:E366K	E	+	1	0	KLRAQ1	48555333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.950000	0.93019	2.510000	0.84645	0.650000	0.86243	GAA		0.403	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		A	48701829	G	A	48701829	3	1	50	1	0	0	0	0	1	0	0	0	8413	943	33	2	1142	2	KLRAQ1	2	48701829	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	1312402	48701829	194497544	22	2351											
CCDC104	112942	genome.wustl.edu	37	2	55771143	55771143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:55771143delC	ENST00000349456.4	+	8	858	c.710delC	c.(709-711)tccfs	p.S238fs	CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000407816.3_Intron|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.S263fs			Q96G28	CFA36_HUMAN		238										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTGAAACTTCCTCCCTCCCA	0.393																																																0			2											95	101	99					2																	55771143		2203	4300	6503	55624647	SO:0001589	frameshift_variant	112942																														ENST00000349456.4:c.710delC	2.37:g.55771143delC	ENSP00000295117:p.Ser238fs		55624647	Q53SF0|Q53ST9|Q6UY34	Frame_Shift_Del	DEL	ENST00000349456.4	37	CCDS1854.2																																																																																				0.393	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			-	55771143	C	-	55771143	7	5	50	1	0	1	0	1	0	0	0	0	2739	855	30	0	740	0	CCDC104	2	55771143	Frame_Shift_Del	DEL	C	TCGA-09-1674-01A-01W-0633-09	7069314	55771143	187428230	23	2352											
RGPD1	729857	genome.wustl.edu	37	2	88071826	88071826	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:88071826C>T	ENST00000398146.3	-	22	5320	c.5098G>A	c.(5098-5100)Gtg>Atg	p.V1700M	RGPD2_ENST00000327544.6_Missense_Mutation_p.V957M|RGPD2_ENST00000420840.2_Missense_Mutation_p.V1692M			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1700	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						AAGTGTTCCACGTTAGCTGCA	0.418																																																0			2											2	2	2					2																	88071826		554	1364	1918	87852941	SO:0001583	missense	729857				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.5098G>A	2.37:g.88071826C>T	ENSP00000381214:p.Val1700Met		87852941	P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	ENST00000398146.3	37	CCDS42710.2	.	.	.	.	.	.	.	.	.	.	c	5.427	0.263841	0.10294	.	.	ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000469984;ENST00000327544	T;T;T	0.36878	1.23;1.23;2.39	.	.	.	.	.	.	.	.	T	0.13157	0.0319	N	0.02751	-0.505	0.23386	N	0.99778	B	0.26744	0.158	B	0.17722	0.019	T	0.17806	-1.0357	8	0.62326	D	0.03	-2.331	3.5985	0.08016	2.0E-4:0.5013:0.4982:2.0E-4	.	1700	B4DYH0	.	M	1700;1692;611;957	ENSP00000381214:V1700M;ENSP00000413275:V1692M;ENSP00000332727:V957M	ENSP00000332727:V957M	V	-	1	0	RGPD2	87852941	1.000000	0.71417	0.356000	0.25785	0.356000	0.29392	1.646000	0.37249	0.064000	0.16427	0.064000	0.15345	GTG		0.418	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170		T	88071826	C	T	88071826	3	4	50	1	0	0	0	0	1	0	0	0	13288	536	19	1	5519	1	RGPD1	2	88071826	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	32300683	88071826	155127547	24	2353											
MITD1	129531	genome.wustl.edu	37	2	99797432	99797432	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:99797432C>T	ENST00000289359.2	-	1	89	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	MRPL30_ENST00000338148.3_5'Flank|C2orf15_ENST00000512183.2_5'Flank|MRPL30_ENST00000409145.1_5'Flank|MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	5					cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(2)|ovary(1)	6						TGCCTCAGCCCGGACTTCGCC	0.587																																																0			2											40	38	38					2																	99797432		2203	4300	6503	99163864	SO:0001583	missense	129531			BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.13G>A	2.37:g.99797432C>T	ENSP00000289359:p.Gly5Arg		99163864	Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910339	0.52439	.	.	ENSG00000158411	ENST00000289359;ENST00000409107	T;T	0.44482	0.92;0.92	5.19	-3.12	0.05282	.	1.058890	0.07273	N	0.869490	T	0.19525	0.0469	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.22417	-1.0217	10	0.23891	T	0.37	.	7.2423	0.26104	0.0:0.2595:0.4254:0.3151	.	5	Q8WV92	MITD1_HUMAN	R	5	ENSP00000289359:G5R;ENSP00000387316:G5R	ENSP00000289359:G5R	G	-	1	0	MITD1	99163864	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.212000	0.09319	-0.485000	0.06754	0.643000	0.83706	GGG		0.587	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		T	99797432	C	T	99797432	3	4	50	1	0	0	0	0	1	0	0	0	9595	652	23	1	764	1	MITD1	2	99797432	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	11725606	99797432	143401941	25	2354											
TMEM182	130827	genome.wustl.edu	37	2	103380882	103380882	+	Silent	SNP	A	A	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:103380882A>C	ENST00000412401.2	+	3	532	c.327A>C	c.(325-327)gcA>gcC	p.A109A	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Silent_p.A66A|TMEM182_ENST00000409528.1_Silent_p.A13A	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	109						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						ATGACTCTGCAGTTAGTAAGT	0.453																																																0			2											122	99	107					2																	103380882		2203	4300	6503	102747314	SO:0001819	synonymous_variant	130827			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.327A>C	2.37:g.103380882A>C			102747314	C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Silent	SNP	ENST00000412401.2	37	CCDS2064.1																																																																																				0.453	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		C	103380882	A	C	103380882	2	2	50	1	0	0	0	0	0	0	0	1	16101	175	7	5		5	TMEM182	2	103380882	Silent	SNP	A	TCGA-09-1674-01A-01W-0633-09	3583450	103380882	139818491	26	2355											
TMEM177	80775	genome.wustl.edu	37	2	120438940	120438940	+	Silent	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:120438940C>T	ENST00000424086.1	+	2	984	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	TMEM177_ENST00000401466.1_Silent_p.L171L|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.L171L	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	171						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGTGCACGCCCTGCTGGCCCC	0.642																																																0			2											53	58	56					2																	120438940		2203	4300	6503	120155410	SO:0001819	synonymous_variant	80775			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.511C>T	2.37:g.120438940C>T			120155410	Q9BT20	Silent	SNP	ENST00000424086.1	37	CCDS2128.1																																																																																				0.642	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		T	120438940	C	T	120438940	2	4	50	1	0	0	0	0	0	0	0	1	16094	680	24	2		2	TMEM177	2	120438940	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09	17058058	120438940	122760433	27	2356											
POTEE	445582	genome.wustl.edu	37	2	132021376	132021376	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:132021376A>G	ENST00000356920.5	+	15	2442	c.2348A>G	c.(2347-2349)gAg>gGg	p.E783G	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	783	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GATGACATGGAGAAGATCTGG	0.597																																																0			2											25	27	27					2																	132021376		1962	3829	5791	131737846	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2348A>G	2.37:g.132021376A>G	ENSP00000439189:p.Glu783Gly		131737846	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.88	2.962921	0.53507	.	.	ENSG00000188219	ENST00000356920	D	0.98120	-4.73	.	.	.	.	.	.	.	.	D	0.98868	0.9617	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96831	0.9611	8	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	783	Q6S8J3	POTEE_HUMAN	G	783	ENSP00000439189:E783G	ENSP00000439189:E783G	E	+	2	0	AC131180.1	131737846	1.000000	0.71417	0.199000	0.23439	0.201000	0.24016	6.177000	0.71961	0.103000	0.17682	0.102000	0.15555	GAG		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		G	132021376	A	G	132021376	3	3	50	1	0	0	0	0	1	0	0	0	12264	304	11	4	2406	4	POTEE	2	132021376	Missense_Mutation	SNP	A	TCGA-09-1674-01A-01W-0633-09	11582436	132021376	111177997	28	2357											
RIF1	55183	genome.wustl.edu	37	2	152289618	152289618	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:152289618A>G	ENST00000243326.5	+	9	1436	c.953A>G	c.(952-954)aAg>aGg	p.K318R	RIF1_ENST00000430328.2_Missense_Mutation_p.K318R|RIF1_ENST00000444746.2_Missense_Mutation_p.K318R|RIF1_ENST00000453091.2_Missense_Mutation_p.K318R|RIF1_ENST00000428287.2_Missense_Mutation_p.K318R|RIF1_ENST00000433166.2_Missense_Mutation_p.K287R			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAAGACTCAAGTTGTTAATG	0.363																																																0			2											101	97	99					2																	152289618		2203	4300	6503	151997864	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.953A>G	2.37:g.152289618A>G	ENSP00000243326:p.Lys318Arg		151997864	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769764	0.90020	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	T;T;T;T;T;T	0.49432	2.59;2.59;2.59;0.78;2.59;2.59	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.977;0.999	T	0.61287	-0.7093	10	0.46703	T	0.11	-14.6204	15.5347	0.75993	1.0:0.0:0.0:0.0	.	318;318	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	R	318;318;318;287;318;318	ENSP00000390181:K318R;ENSP00000414615:K318R;ENSP00000415691:K318R;ENSP00000396865:K287R;ENSP00000243326:K318R;ENSP00000416123:K318R	ENSP00000243326:K318R	K	+	2	0	RIF1	151997864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.159000	0.77483	2.146000	0.66826	0.528000	0.53228	AAG		0.363	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			G	152289618	A	G	152289618	3	3	50	1	0	0	0	0	1	0	0	0	13362	72	3	4	987	4	RIF1	2	152289618	Missense_Mutation	SNP	A	TCGA-09-1674-01A-01W-0633-09	20268242	152289618	90909755	29	2358											
SLC38A11	151258	genome.wustl.edu	37	2	165793874	165793874	+	Silent	SNP	T	T	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:165793874T>A	ENST00000409149.3	-	6	726	c.435A>T	c.(433-435)tcA>tcT	p.S145S	SLC38A11_ENST00000409662.1_Silent_p.S145S|SLC38A11_ENST00000409058.1_Silent_p.S176S|SLC38A11_ENST00000303735.4_Silent_p.S123S|SLC38A11_ENST00000493887.1_5'UTR	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	145					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						GTGGACCCAGTGAAATTGCCC	0.353																																																0			2											128	127	127					2																	165793874		2203	4300	6503	165502120	SO:0001819	synonymous_variant	151258				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.435A>T	2.37:g.165793874T>A			165502120	B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	CCDS56142.1																																																																																				0.353	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		A	165793874	T	A	165793874	2	1	50	1	0	0	0	0	0	0	0	1	14606	1683	59	5		5	SLC38A11	2	165793874	Silent	SNP	T	TCGA-09-1674-01A-01W-0633-09	13504256	165793874	77405499	30	2359											
TTN	7273	genome.wustl.edu	37	2	179440136	179440136	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:179440136C>T	ENST00000591111.1	-	276	66024	c.65800G>A	c.(65800-65802)Ggc>Agc	p.G21934S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23575S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14635S|TTN_ENST00000460472.2_Missense_Mutation_p.G14510S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14702S|TTN_ENST00000342992.6_Missense_Mutation_p.G21007S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21934	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTCAGAGCCTTTTCTTTGG	0.488																																																0			2											140	135	136					2																	179440136		2009	4195	6204	179148382	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65800G>A	2.37:g.179440136C>T	ENSP00000465570:p.Gly21934Ser		179148382	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.03	3.007444	0.54361	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69405	0.3107	L	0.45137	1.4	0.80722	D	1	P;P;P;D	0.60160	0.941;0.941;0.941;0.987	P;P;P;P	0.62184	0.639;0.639;0.639;0.899	T	0.71251	-0.4648	9	0.87932	D	0	.	19.612	0.95610	0.0:1.0:0.0:0.0	.	14510;14635;14702;21934	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	21007;14510;14702;14635;14508	ENSP00000343764:G21007S;ENSP00000434586:G14510S;ENSP00000340554:G14702S;ENSP00000352154:G14635S	ENSP00000340554:G14702S	G	-	1	0	TTN	179148382	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.070000	0.71220	2.651000	0.90000	0.585000	0.79938	GGC		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179440136	C	T	179440136	3	4	50	1	0	0	0	0	1	0	0	0	16735	681	24	2	37404	2	TTN	2	179440136	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	13646262	179440136	63759237	31	2360											
TTN	7273	genome.wustl.edu	37	2	179486243	179486243	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:179486243C>T	ENST00000591111.1	-	195	40609	c.40385G>A	c.(40384-40386)cGa>cAa	p.R13462Q	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15103Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6163Q|TTN_ENST00000460472.2_Missense_Mutation_p.R6038Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6230Q|TTN_ENST00000342992.6_Missense_Mutation_p.R12535Q			Q8WZ42	TITIN_HUMAN	titin	13462	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTGGGAGTCGACAGTTGTA	0.398																																																0			2											126	126	126					2																	179486243		2016	4174	6190	179194488	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40385G>A	2.37:g.179486243C>T	ENSP00000465570:p.Arg13462Gln		179194488	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.24	2.773611	0.49786	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.62600	0.2441	L	0.38733	1.17	0.34183	D	0.671148	D;D;D;D	0.64830	0.98;0.98;0.98;0.994	P;P;P;P	0.52514	0.532;0.532;0.532;0.701	T	0.73065	-0.4100	9	0.87932	D	0	.	11.7019	0.51575	0.0:0.8958:0.0:0.1042	.	6038;6163;6230;13462	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12535;6038;6230;6163;6038	ENSP00000343764:R12535Q;ENSP00000434586:R6038Q;ENSP00000340554:R6230Q;ENSP00000352154:R6163Q	ENSP00000340554:R6230Q	R	-	2	0	TTN	179194488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.141000	0.50593	2.941000	0.99782	0.655000	0.94253	CGA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179486243	C	T	179486243	3	4	50	1	0	0	0	0	1	0	0	0	16735	884	31	1	62857	1	TTN	2	179486243	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	46107	179486243	63713130	32	2361											
ZNF804A	91752	genome.wustl.edu	37	2	185801312	185801312	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:185801312G>A	ENST00000302277.6	+	4	1783	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	397							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAATGGTCCCGAGACATTGGC	0.378																																																0			2											69	72	71					2																	185801312		2203	4300	6503	185509557	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1189G>A	2.37:g.185801312G>A	ENSP00000303252:p.Glu397Lys		185509557	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	4.880	0.163611	0.09287	.	.	ENSG00000170396	ENST00000302277	T	0.06933	3.24	5.6	3.8	0.43715	.	1.271890	0.05268	N	0.516962	T	0.13500	0.0327	L	0.53249	1.67	0.21782	N	0.999546	B	0.19073	0.033	B	0.12156	0.007	T	0.50171	-0.8859	10	0.23891	T	0.37	-6.0997	16.1389	0.81509	0.0721:0.0:0.9279:0.0	.	397	Q7Z570	Z804A_HUMAN	K	397	ENSP00000303252:E397K	ENSP00000303252:E397K	E	+	1	0	ZNF804A	185509557	0.999000	0.42202	0.026000	0.17262	0.003000	0.03518	3.542000	0.53625	0.730000	0.32425	-1.287000	0.01368	GAG		0.378	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185801312	G	A	185801312	3	1	50	1	0	0	0	0	1	0	0	0	18170	1059	37	1	1203	1	ZNF804A	2	185801312	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	6315069	185801312	57398061	33	2362											
WDR69	164781	genome.wustl.edu	37	2	228769698	228769698	+	Silent	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:228769698C>A	ENST00000309931.2	+	8	785	c.702C>A	c.(700-702)atC>atA	p.I234I	DAW1_ENST00000545118.1_Silent_p.I219I|DAW1_ENST00000373666.2_Silent_p.I234I	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	234						cilium (GO:0005929)											GAGACAGAATCATCACGGGGT	0.413																																																0			2											164	167	166					2																	228769698		2203	4300	6503	228477942	SO:0001819	synonymous_variant	164781				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.702C>A	2.37:g.228769698C>A			228477942	Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	CCDS2470.1																																																																																				0.413	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		A	228769698	C	A	228769698	2	1	50	1	0	0	0	0	0	0	0	1	17319	816	29	3		3	WDR69	2	228769698	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09	42968386	228769698	14429675	34	2363											
DGKD	8527	genome.wustl.edu	37	2	234368407	234368407	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:234368407G>T	ENST00000264057.2	+	23	2711	c.2699G>T	c.(2698-2700)cGc>cTc	p.R900L	DGKD_ENST00000409813.3_Missense_Mutation_p.R856L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	900					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCTCAGTGTCGCACGGTGAAG	0.567																																																0			2											85	72	77					2																	234368407		2203	4300	6503	234033146	SO:0001583	missense	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2699G>T	2.37:g.234368407G>T	ENSP00000264057:p.Arg900Leu		234033146	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711233	0.89112	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.48522	0.81;0.81	4.35	4.35	0.52113	Diacylglycerol kinase, accessory domain (2);	0.000000	0.64402	D	0.000001	T	0.73869	0.3642	M	0.88640	2.97	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.85130	0.979;0.997	T	0.80455	-0.1375	10	0.72032	D	0.01	.	17.4273	0.87529	0.0:0.0:1.0:0.0	.	856;900	Q16760-2;Q16760	.;DGKD_HUMAN	L	900;856	ENSP00000264057:R900L;ENSP00000386455:R856L	ENSP00000264057:R900L	R	+	2	0	DGKD	234033146	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.540000	0.98080	2.442000	0.82660	0.462000	0.41574	CGC		0.567	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		T	234368407	G	T	234368407	3	4	50	1	0	0	0	0	1	0	0	0	4467	1087	38	3	2813	3	DGKD	2	234368407	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	5598709	234368407	8830966	35	2364											
UGT1A1	54578	genome.wustl.edu	37	2	234681080	234681080	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr2:234681080G>T	ENST00000305139.6	+	5	1613	c.1474G>T	c.(1474-1476)Ggt>Tgt	p.G492C	UGT1A4_ENST00000373409.3_Missense_Mutation_p.G494C|UGT1A1_ENST00000609767.1_Missense_Mutation_p.G494C|UGT1A8_ENST00000305208.5_Missense_Mutation_p.G493C|UGT1A9_ENST00000354728.4_Missense_Mutation_p.G490C|UGT1A7_ENST00000373426.3_Missense_Mutation_p.G490C|UGT1A1_ENST00000609637.1_Missense_Mutation_p.G490C|UGT1A10_ENST00000344644.5_Missense_Mutation_p.G490C|UGT1A5_ENST00000373414.3_Missense_Mutation_p.G494C|UGT1A1_ENST00000608381.1_Missense_Mutation_p.G494C|UGT1A6_ENST00000373424.1_Missense_Mutation_p.G225C|UGT1A1_ENST00000608383.1_Missense_Mutation_p.G493C|UGT1A1_ENST00000373450.4_Missense_Mutation_p.G490C|UGT1A3_ENST00000482026.1_Missense_Mutation_p.G494C	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	492					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGACGTGATTGGTTTCCTCTT	0.547																																																0			2	GRCh37	CM066253	UGT1A1	M							182	147	159					2																	234681080		2203	4300	6503	234345819	SO:0001583	missense	54657			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1474G>T	2.37:g.234681080G>T	ENSP00000303174:p.Gly492Cys		234345819	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621994	0.87460	.	.	ENSG00000242366;ENSG00000242515;ENSG00000241119;ENSG00000244122;ENSG00000167165;ENSG00000167165;ENSG00000240224;ENSG00000244474;ENSG00000243135;ENSG00000241635	ENST00000373450;ENST00000344644;ENST00000354728;ENST00000373426;ENST00000373424;ENST00000305139;ENST00000373414;ENST00000373409;ENST00000482026;ENST00000305208	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.83	5.83	0.93111	.	0.250050	0.38897	N	0.001526	D	0.83917	0.5358	M	0.80616	2.505	0.80722	D	1	P;D;D;D;D;D;D;D;D	0.89917	0.929;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D	0.97110	0.736;0.987;1.0;0.997;0.998;1.0;0.994;0.994;0.977	D	0.84968	0.0881	10	0.87932	D	0	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	493;494;494;494;492;490;490;490;490	P22309;P35503;P22310;P35504;P19224;Q9HAW7;O60656;Q9HAW8;Q9HAW9	UD11_HUMAN;UD13_HUMAN;UD14_HUMAN;UD15_HUMAN;UD16_HUMAN;UD17_HUMAN;UD19_HUMAN;UD110_HUMAN;UD18_HUMAN	C	490;490;490;490;225;492;494;494;494;493	ENSP00000362549:G490C;ENSP00000343838:G490C;ENSP00000346768:G490C;ENSP00000362525:G490C;ENSP00000362523:G225C;ENSP00000303174:G492C;ENSP00000362513:G494C;ENSP00000362508:G494C;ENSP00000418532:G494C;ENSP00000304845:G493C	ENSP00000343838:G490C	G	+	1	0	UGT1A7;UGT1A6;UGT1A10;UGT1A9;UGT1A8;UGT1A3;UGT1A5;UGT1A4;UGT1A1	234345819	0.999000	0.42202	0.980000	0.43619	0.821000	0.46438	4.497000	0.60367	2.770000	0.95276	0.655000	0.94253	GGT		0.547	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		T	234681080	G	T	234681080	3	4	50	1	0	0	0	0	1	0	0	0	16944	1348	47	3	1495	3	UGT1A1	2	234681080	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	312673	234681080	8518293	36	2365											
CNTN6	27255	genome.wustl.edu	37	3	1427457	1427457	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr3:1427457G>A	ENST00000446702.2	+	20	3307	c.2680G>A	c.(2680-2682)Gtc>Atc	p.V894I	CNTN6_ENST00000350110.2_Missense_Mutation_p.V894I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V822I			Q9UQ52	CNTN6_HUMAN	contactin 6	894	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGCCCCCCAGTCAATGTTAC	0.448																																																0			3											134	133	134					3																	1427457		2203	4300	6503	1402457	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2680G>A	3.37:g.1427457G>A	ENSP00000407822:p.Val894Ile		1402457	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107916	0.56291	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.55234	0.53;0.53;0.53	5.75	5.75	0.90469	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000059	T	0.57562	0.2062	N	0.17278	0.47	0.51767	D	0.999937	P	0.40731	0.728	P	0.59056	0.851	T	0.50701	-0.8797	10	0.22109	T	0.4	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	894	Q9UQ52	CNTN6_HUMAN	I	894;822;894	ENSP00000407822:V894I;ENSP00000442791:V822I;ENSP00000341882:V894I	ENSP00000341882:V894I	V	+	1	0	CNTN6	1402457	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	5.993000	0.70616	2.708000	0.92522	0.650000	0.86243	GTC		0.448	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		A	1427457	G	A	1427457	3	1	50	1	0	0	0	0	1	0	0	0	3645	1029	36	2	2754	2	CNTN6	3	1427457	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09		1427457	196594973	37	2366											
ZNF197	10168	genome.wustl.edu	37	3	44683800	44683800	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr3:44683800C>G	ENST00000396058.1	+	5	1345	c.1178C>G	c.(1177-1179)aCt>aGt	p.T393S	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.T393S			O14709	ZN197_HUMAN	zinc finger protein 197	393					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAATCCACACTGGTGAGAAA	0.353																																																0			3											40	40	40					3																	44683800		2202	4297	6499	44658804	SO:0001583	missense	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1178C>G	3.37:g.44683800C>G	ENSP00000379370:p.Thr393Ser		44658804	B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774086	0.49786	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.24151	1.87;1.87	4.2	2.19	0.27852	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36409	N	0.002615	T	0.22975	0.0555	L	0.43554	1.36	0.32133	N	0.586519	B	0.20459	0.045	B	0.21917	0.037	T	0.28933	-1.0028	10	0.46703	T	0.11	.	13.72	0.62720	0.0:0.7095:0.2905:0.0	.	393	O14709	ZN197_HUMAN	S	393	ENSP00000345809:T393S;ENSP00000379370:T393S	ENSP00000345809:T393S	T	+	2	0	ZNF197	44658804	0.718000	0.27976	1.000000	0.80357	0.979000	0.70002	1.421000	0.34815	1.079000	0.41038	0.455000	0.32223	ACT		0.353	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		G	44683800	C	G	44683800	3	3	50	1	0	0	0	0	1	0	0	0	17759	565	20	3	1196	3	ZNF197	3	44683800	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	43256343	44683800	153338630	38	2367											
SETD2	29072	genome.wustl.edu	37	3	47098685	47098685	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr3:47098685C>G	ENST00000409792.3	-	15	6631	c.6589G>C	c.(6589-6591)Gtg>Ctg	p.V2197L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2197	Low charge region.|Pro-rich.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGAGAACACACTGGGTCCATG	0.562			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0			3											103	87	93					3																	47098685		2203	4300	6503	47073689	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6589G>C	3.37:g.47098685C>G	ENSP00000386759:p.Val2197Leu		47073689	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657866	0.47467	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.44083	0.93	5.25	4.37	0.52481	.	0.110089	0.39146	N	0.001452	T	0.19725	0.0474	N	0.08118	0	0.34461	D	0.701798	B;B	0.24721	0.11;0.11	B;B	0.23150	0.044;0.044	T	0.13255	-1.0516	10	0.45353	T	0.12	.	4.9172	0.13851	0.0:0.7396:0.0:0.2604	.	2197;2197	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	2197	ENSP00000386759:V2197L	ENSP00000386759:V2197L	V	-	1	0	SETD2	47073689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.504000	0.53347	2.894000	0.99253	0.655000	0.94253	GTG		0.562	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47098685	C	G	47098685	3	3	50	1	0	0	0	0	1	0	0	0	14134	565	20	3	1133	3	SETD2	3	47098685	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	2414885	47098685	150923745	39	2368											
MST1R	4486	genome.wustl.edu	37	3	49924849	49924849	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr3:49924849G>T	ENST00000296474.3	-	20	4121	c.4094C>A	c.(4093-4095)cCc>cAc	p.P1365H	MST1R_ENST00000344206.4_Missense_Mutation_p.P1316H	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1365					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CGAGGTGCTGGGGCCCAAGTT	0.597																																																0			3											129	116	121					3																	49924849		2203	4300	6503	49899853	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4094C>A	3.37:g.49924849G>T	ENSP00000296474:p.Pro1365His		49899853	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005418	0.35415	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.74947	-0.88;-0.89	5.08	4.14	0.48551	.	0.243081	0.29609	N	0.011679	T	0.79857	0.4518	M	0.62723	1.935	0.31395	N	0.677325	D	0.71674	0.998	P	0.60173	0.87	T	0.81017	-0.1123	10	0.87932	D	0	-7.2617	8.5303	0.33331	0.116:0.0:0.884:0.0	.	1365	Q04912	RON_HUMAN	H	1365;1316	ENSP00000296474:P1365H;ENSP00000341325:P1316H	ENSP00000296474:P1365H	P	-	2	0	MST1R	49899853	0.685000	0.27652	0.823000	0.32752	0.006000	0.05464	0.896000	0.28377	1.381000	0.46364	0.655000	0.94253	CCC		0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			T	49924849	G	T	49924849	3	4	50	1	0	0	0	0	1	0	0	0	9891	1232	43	3	112	3	MST1R	3	49924849	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	2826164	49924849	148097581	40	2369											
MYLK	4638	genome.wustl.edu	37	3	123457748	123457748	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr3:123457748A>C	ENST00000475616.1	-	4	583	c.584T>G	c.(583-585)cTc>cGc	p.L195R	MYLK_ENST00000360304.3_Missense_Mutation_p.L195R|MYLK_ENST00000359169.1_Missense_Mutation_p.L195R|MYLK_ENST00000346322.5_Missense_Mutation_p.L195R|MYLK_ENST00000360772.3_Missense_Mutation_p.L195R			Q15746	MYLK_HUMAN	myosin light chain kinase	195	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTCACCTTGAGCCAGGTGAC	0.522																																																0			3											60	54	56					3																	123457748		2203	4300	6503	124940438	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.584T>G	3.37:g.123457748A>C	ENSP00000418335:p.Leu195Arg		124940438	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787876	0.70337	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	4.52	4.52	0.55395	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68339	0.2990	N	0.17800	0.525	0.80722	D	1	P;D;B;D;B;D	0.54964	0.946;0.969;0.244;0.969;0.1;0.957	P;P;B;P;B;P	0.55455	0.668;0.754;0.057;0.668;0.057;0.776	T	0.65845	-0.6069	9	0.31617	T	0.26	.	8.7648	0.34696	0.8311:0.0:0.0:0.1689	.	195;195;195;195;195;195	Q15746-6;Q15746-5;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	R	195	ENSP00000354004:L195R;ENSP00000353452:L195R;ENSP00000352088:L195R;ENSP00000320622:L195R;ENSP00000418335:L195R	ENSP00000320622:L195R	L	-	2	0	MYLK	124940438	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.024000	0.41049	2.020000	0.59435	0.533000	0.62120	CTC		0.522	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		C	123457748	A	C	123457748	3	2	50	1	0	0	0	0	1	0	0	0	10056	304	11	5	5272	5	MYLK	3	123457748	Missense_Mutation	SNP	A	TCGA-09-1674-01A-01W-0633-09	73532899	123457748	74564682	41	2370											
ALDH1L1	10840	genome.wustl.edu	37	3	125872376	125872376	+	Missense_Mutation	SNP	C	C	T	rs181617166	byFrequency	TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr3:125872376C>T	ENST00000393434.2	-	7	1118	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E156K|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E257K|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.E82K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E267K|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E257K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	257					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCGTCTCCCTCGGGCACCAGG	0.537													C|||	3	0.000599042	0	0	5008	,	,		20658	0.002		0.001	False		,,,				2504	0															0			3						C	LYS/GLU	0,4406		0,0,2203	99	97	98		769	2.4	0.7	3		98	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ALDH1L1	NM_012190.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	257/903	125872376	1,13005	2203	4300	6503	127355066	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.769G>A	3.37:g.125872376C>T	ENSP00000377083:p.Glu257Lys		127355066	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	3	0.0013736263736263737	0	0.0	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	C	6.775	0.512001	0.12944	0.0	1.16E-4	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.98	4.25	2.37	0.29283	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.633028	0.15907	N	0.238804	T	0.24851	0.0603	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.27264	0.173;0.083;0.061;0.149;0.025	B;B;B;B;B	0.21151	0.029;0.015;0.009;0.033;0.006	T	0.15065	-1.0450	10	0.23891	T	0.37	.	6.9175	0.24367	0.0:0.7198:0.1785:0.1018	.	82;156;309;162;257	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	K	267;257;156;257;257;82	ENSP00000273450:E267K;ENSP00000420293:E257K;ENSP00000395881:E156K;ENSP00000377083:E257K;ENSP00000377081:E257K;ENSP00000414126:E82K	ENSP00000273450:E267K	E	-	1	0	ALDH1L1	127355066	0.002000	0.14202	0.716000	0.30569	0.199000	0.23934	0.083000	0.14871	0.393000	0.25203	0.467000	0.42956	GAG		0.537	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		T	125872376	C	T	125872376	3	4	50	1	0	0	0	0	1	0	0	0	494	893	31	1	2007	1	ALDH1L1	3	125872376	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	2414628	125872376	72150054	42	2371											
PIK3CB	5291	genome.wustl.edu	37	3	138383926	138383926	+	Missense_Mutation	SNP	G	G	T	rs141548103		TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr3:138383926G>T	ENST00000477593.1	-	19	2697	c.2624C>A	c.(2623-2625)gCc>gAc	p.A875D	PIK3CB_ENST00000544716.1_Missense_Mutation_p.A326D|PIK3CB_ENST00000289153.2_Missense_Mutation_p.A875D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	875	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TTTGTTGAAGGCTGCTGCAGC	0.413																																																0			3											81	76	78					3																	138383926		2203	4300	6503	139866616	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2624C>A	3.37:g.138383926G>T	ENSP00000418143:p.Ala875Asp		139866616	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.064594|5.064594	0.93898|0.93898	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.75821|.	-0.97;-0.97;-0.97|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.050717|.	0.85682|.	D|.	0.000000|.	T|T	0.81908|0.81908	0.4922|0.4922	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;P|.	0.81914|.	0.992;0.995;0.904|.	T|T	0.82018|0.82018	-0.0665|-0.0665	10|5	0.66056|.	D|.	0.02|.	-11.1785|-11.1785	19.6821|19.6821	0.95969|0.95969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	875;462;326|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	D|T	875;326;875|507	ENSP00000418143:A875D;ENSP00000438259:A326D;ENSP00000289153:A875D|.	ENSP00000289153:A875D|.	A|P	-|-	2|1	0|0	PIK3CB|PIK3CB	139866616|139866616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	2.719000|2.719000	0.93026|0.93026	0.555000|0.555000	0.69702|0.69702	GCC|CCT		0.413	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			T	138383926	G	T	138383926	3	4	50	1	0	0	0	0	1	0	0	0	11914	1203	42	3	606	3	PIK3CB	3	138383926	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	12511550	138383926	59638504	43	2372											
CPA3	1359	genome.wustl.edu	37	3	148601470	148601470	+	Silent	SNP	G	G	C	rs200538548		TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr3:148601470G>C	ENST00000296046.3	+	9	901	c.849G>C	c.(847-849)acG>acC	p.T283T	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	283					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGAAAGAGACGAAAGCTGTCA	0.448																																																0			3											89	84	86					3																	148601470		2203	4300	6503	150084160	SO:0001819	synonymous_variant	1359				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.849G>C	3.37:g.148601470G>C			150084160	Q96E94	Silent	SNP	ENST00000296046.3	37	CCDS3138.1																																																																																				0.448	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		C	148601470	G	C	148601470	2	2	50	1	0	0	0	0	0	0	0	1	3791	1045	37	3		3	CPA3	3	148601470	Silent	SNP	G	TCGA-09-1674-01A-01W-0633-09	10217544	148601470	49420960	44	2373											
LPP	4026	genome.wustl.edu	37	3	188590516	188590516	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr3:188590516G>C	ENST00000312675.4	+	10	1921	c.1675G>C	c.(1675-1677)Gat>Cat	p.D559H	LPP_ENST00000543006.1_Missense_Mutation_p.D559H	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	559	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGTGGCTTTGGATCGAGATTT	0.552			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	0			3											142	113	123					3																	188590516		2203	4300	6503	190073210	SO:0001583	missense	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1675G>C	3.37:g.188590516G>C	ENSP00000318089:p.Asp559His		190073210	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139635	0.94560	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.89552	-2.53;-2.53	5.51	5.51	0.81932	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97390	0.9988	10	0.87932	D	0	.	18.4152	0.90567	0.0:0.0:1.0:0.0	.	412;559	B7Z8W0;Q93052	.;LPP_HUMAN	H	559	ENSP00000318089:D559H;ENSP00000438891:D559H	ENSP00000318089:D559H	D	+	1	0	LPP	190073210	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.603000	0.88011	0.655000	0.94253	GAT		0.552	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		C	188590516	G	C	188590516	3	2	50	1	0	0	0	0	1	0	0	0	8923	1174	41	3	1705	3	LPP	3	188590516	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	39989046	188590516	9431914	45	2374											
CPZ	8532	genome.wustl.edu	37	4	8605748	8605748	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr4:8605748C>T	ENST00000360986.4	+	4	716	c.542C>T	c.(541-543)aCc>aTc	p.T181I	CPZ_ENST00000382480.2_Missense_Mutation_p.T44I|CPZ_ENST00000315782.6_Missense_Mutation_p.T170I|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	181					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCCGCCCACCTTCATCCGC	0.697																																																0			4											30	24	26					4																	8605748		2178	4263	6441	8656648	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.542C>T	4.37:g.8605748C>T	ENSP00000354255:p.Thr181Ile		8656648	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	9.209	1.030366	0.19512	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03301	3.98;3.98;3.98	3.65	2.75	0.32379	.	0.629307	0.13372	N	0.392802	T	0.08268	0.0206	M	0.61703	1.905	0.39134	D	0.961917	P;P	0.47841	0.878;0.901	P;B	0.46825	0.528;0.312	T	0.22836	-1.0205	10	0.54805	T	0.06	-20.7775	11.8831	0.52586	0.1763:0.8237:0.0:0.0	.	170;181	Q66K79-2;Q66K79	.;CBPZ_HUMAN	I	181;44;170	ENSP00000354255:T181I;ENSP00000371920:T44I;ENSP00000315074:T170I	ENSP00000315074:T170I	T	+	2	0	CPZ	8656648	0.139000	0.22563	0.432000	0.26747	0.152000	0.21847	1.570000	0.36439	0.665000	0.31066	0.555000	0.69702	ACC		0.697	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		T	8605748	C	T	8605748	3	4	50	1	0	0	0	0	1	0	0	0	3839	507	18	2	556	2	CPZ	4	8605748	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09		8605748	182548528	46	2375											
TRIM2	23321	genome.wustl.edu	37	4	154191630	154191630	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr4:154191630G>C	ENST00000437508.2	+	2	294	c.93G>C	c.(91-93)aaG>aaC	p.K31N	TRIM2_ENST00000338700.5_Missense_Mutation_p.K58N|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	31					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AACGGTACAAGAATCCCAAGG	0.522																																																0			4											160	136	145					4																	154191630		2203	4300	6503	154411080	SO:0001583	missense	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.93G>C	4.37:g.154191630G>C	ENSP00000415812:p.Lys31Asn		154411080	D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547884	0.45383	.	.	ENSG00000109654	ENST00000441616;ENST00000437508;ENST00000338700	D;D;D	0.84660	-1.88;-1.88;-1.88	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.092101	0.85682	D	0.000000	T	0.78874	0.4352	L	0.35854	1.095	0.45979	D	0.998792	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.001	T	0.72523	-0.4267	10	0.33940	T	0.23	-2.5424	13.0546	0.58973	0.0733:0.0:0.9267:0.0	.	31;58;31	C9JVI3;D3DP09;Q9C040	.;.;TRIM2_HUMAN	N	31;31;58	ENSP00000400879:K31N;ENSP00000415812:K31N;ENSP00000339659:K58N	ENSP00000339659:K58N	K	+	3	2	TRIM2	154411080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.043000	0.49823	2.678000	0.91216	0.650000	0.86243	AAG		0.522	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			C	154191630	G	C	154191630	3	2	50	1	0	0	0	0	1	0	0	0	16494	933	33	3	180	3	TRIM2	4	154191630	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	145585882	154191630	36962646	47	2376											
F11	2160	genome.wustl.edu	37	4	187201536	187201536	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr4:187201536G>A	ENST00000403665.2	+	9	1377	c.1025G>A	c.(1024-1026)gGg>gAg	p.G342E	F11_ENST00000264692.4_Missense_Mutation_p.G290E	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	342	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TGCAACGAAGGGAAGTAAGCC	0.512																																																0			4											116	111	113					4																	187201536		2203	4300	6503	187438530	SO:0001583	missense	2160			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1025G>A	4.37:g.187201536G>A	ENSP00000384957:p.Gly342Glu		187438530	D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.956|1.956	-0.439983|-0.439983	0.04636|0.04636	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000452239	D;D|D	0.82167|0.82167	-1.58;-1.58|-1.58	5.59|5.59	-0.416|-0.416	0.12351|0.12351	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	1.291810|1.291810	0.05005|0.05005	N|N	0.469880|0.469880	T|T	0.67173|0.67173	0.2865|0.2865	N|N	0.04636|0.04636	-0.2|-0.2	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.14578|.	0.011|.	T|T	0.54846|0.54846	-0.8232|-0.8232	10|8	0.02654|0.29301	T|T	1|0.29	.|.	11.067|11.067	0.47980|0.47980	0.6422:0.0:0.3578:0.0|0.6422:0.0:0.3578:0.0	.|.	342|.	P03951|.	FA11_HUMAN|.	E|R	342;290|158	ENSP00000384957:G342E;ENSP00000264692:G290E|ENSP00000397401:G158R	ENSP00000264692:G290E|ENSP00000397401:G158R	G|G	+|+	2|1	0|0	F11|F11	187438530|187438530	0.921000|0.921000	0.31238|0.31238	0.097000|0.097000	0.21041|0.21041	0.160000|0.160000	0.22226|0.22226	0.668000|0.668000	0.25127|0.25127	-0.103000|-0.103000	0.12175|0.12175	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.512	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			A	187201536	G	A	187201536	3	1	50	1	0	0	0	0	1	0	0	0	5337	1232	43	2	1055	2	F11	4	187201536	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	33009906	187201536	3952740	48	2377											
CMYA5	202333	genome.wustl.edu	37	5	79030432	79030432	+	Silent	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr5:79030432G>A	ENST00000446378.2	+	2	5875	c.5844G>A	c.(5842-5844)ccG>ccA	p.P1948P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1948					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGTCCTGCCGCATTCTGCTG	0.463																																																0			5											64	62	63					5																	79030432		1940	4147	6087	79066188	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5844G>A	5.37:g.79030432G>A			79066188	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.463	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79030432	G	A	79030432	2	1	50	1	0	0	0	0	0	0	0	1	3590	1074	38	1		1	CMYA5	5	79030432	Silent	SNP	G	TCGA-09-1674-01A-01W-0633-09		79030432	101884828	49	2378											
ADAMTS19	171019	genome.wustl.edu	37	5	129039960	129039960	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr5:129039960G>A	ENST00000274487.4	+	21	3315	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1057	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAGGCATACGTCATCGGACC	0.423																																																0			5											241	216	225					5																	129039960		2203	4300	6503	129067859	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3170G>A	5.37:g.129039960G>A	ENSP00000274487:p.Arg1057His		129067859		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401303	0.25291	.	.	ENSG00000145808	ENST00000274487	T	0.57907	0.37	4.45	4.45	0.53987	.	0.078589	0.51477	D	0.000088	T	0.49864	0.1582	M	0.63169	1.94	0.50813	D	0.99989	B	0.30211	0.273	B	0.23275	0.045	T	0.49428	-0.8941	9	.	.	.	.	18.3946	0.90494	0.0:0.0:1.0:0.0	.	1057	Q8TE59	ATS19_HUMAN	H	1057	ENSP00000274487:R1057H	.	R	+	2	0	ADAMTS19	129067859	0.988000	0.35896	0.419000	0.26584	0.023000	0.10783	3.651000	0.54431	2.758000	0.94735	0.655000	0.94253	CGT		0.423	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		A	129039960	G	A	129039960	3	1	50	1	0	0	0	0	1	0	0	0	264	1145	40	1	3252	1	ADAMTS19	5	129039960	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	50009528	129039960	51875300	50	2379											
HNRNPA0	10949	genome.wustl.edu	37	5	137089048	137089048	+	Silent	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr5:137089048G>A	ENST00000314940.4	-	1	991	c.708C>T	c.(706-708)ggC>ggT	p.G236G		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	236	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			cgccgccgccgcctccgtagg	0.667																																																0			5											4	6	5					5																	137089048		1696	3400	5096	137116947	SO:0001819	synonymous_variant	10949			U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"RNA binding motif (RRM) containing"	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.708C>T	5.37:g.137089048G>A			137116947	Q6IB18	Silent	SNP	ENST00000314940.4	37	CCDS4193.1																																																																																				0.667	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		A	137089048	G	A	137089048	2	1	50	1	0	0	0	0	0	0	0	1	7256	1074	38	1		1	HNRNPA0	5	137089048	Silent	SNP	G	TCGA-09-1674-01A-01W-0633-09	8049088	137089048	43826212	51	2380											
HIST1H1E	3008	genome.wustl.edu	37	6	26156800	26156800	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr6:26156800C>A	ENST00000304218.3	+	1	242	c.182C>A	c.(181-183)gCt>gAt	p.A61D	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	61	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TCTTTGGCCGCTCTCAAGAAA	0.622																																																0			6											31	34	33					6																	26156800		2203	4300	6503	26264779	SO:0001583	missense	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.182C>A	6.37:g.26156800C>A	ENSP00000307705:p.Ala61Asp		26264779	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.487490	0.84854	.	.	ENSG00000168298	ENST00000304218	T	0.15718	2.4	5.11	5.11	0.69529	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.112474	0.64402	D	0.000014	T	0.54727	0.1876	H	0.98218	4.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.73757	-0.3882	10	0.87932	D	0	-3.8218	17.8759	0.88825	0.0:1.0:0.0:0.0	.	61	P10412	H14_HUMAN	D	61	ENSP00000307705:A61D	ENSP00000307705:A61D	A	+	2	0	HIST1H1E	26264779	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	5.869000	0.69613	2.542000	0.85734	0.561000	0.74099	GCT		0.622	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		A	26156800	C	A	26156800	3	1	50	1	0	0	0	0	1	0	0	0	7126	797	28	3	184	3	HIST1H1E	6	26156800	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09		26156800	144958267	52	2381											
NOTCH4	4855	genome.wustl.edu	37	6	32180911	32180911	+	Splice_Site	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr6:32180911C>T	ENST00000375023.3	-	15	2577		c.e15+1		NOTCH4_ENST00000465528.1_Splice_Site	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4						cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCCTGCTCACCTGTCTGCAC	0.647																																																0			6											47	52	50					6																	32180911		2203	4300	6503	32288889	SO:0001630	splice_region_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2438+1G>A	6.37:g.32180911C>T			32288889	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Splice_Site	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255900	0.39896	.	.	ENSG00000204301	ENST00000375023	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8747	0.52539	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH4	32288889	1.000000	0.71417	0.994000	0.49952	0.520000	0.34377	4.167000	0.58209	2.261000	0.74972	0.485000	0.47835	.		0.647	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		Intron	T	32180911	C	T	32180911	5	4	50	1	0	0	0	0	0	0	1	0	10551	521	18	2	3636	2	NOTCH4	6	32180911	Splice_Site	SNP	C	TCGA-09-1674-01A-01W-0633-09	6024111	32180911	138934156	53	2382											
GPR110	266977	genome.wustl.edu	37	6	46977895	46977895	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr6:46977895G>A	ENST00000371253.2	-	11	1491	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	GPR110_ENST00000283297.5_Missense_Mutation_p.R229W|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	426					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATGAATTTCCGAGAAAAATTC	0.428																																																0			6											79	76	77					6																	46977895		2203	4300	6503	47085854	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1276C>T	6.37:g.46977895G>A	ENSP00000360299:p.Arg426Trp		47085854	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122909	0.56613	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.35048	1.33;1.33	5.35	-4.99	0.03010	.	0.603370	0.14993	N	0.286596	T	0.20170	0.0485	M	0.67953	2.075	0.19775	N	0.999951	D	0.65815	0.995	B	0.44315	0.446	T	0.45190	-0.9278	10	0.72032	D	0.01	-0.0889	12.93	0.58282	0.0:0.5137:0.2528:0.2334	.	426	Q5T601	GP110_HUMAN	W	426;426;229	ENSP00000360299:R426W;ENSP00000283297:R229W	ENSP00000283297:R229W	R	-	1	2	GPR110	47085854	0.000000	0.05858	0.143000	0.22291	0.605000	0.37080	-1.065000	0.03458	-0.511000	0.06514	-0.314000	0.08810	CGG		0.428	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		A	46977895	G	A	46977895	3	1	50	1	0	0	0	0	1	0	0	0	6627	1057	37	1	1476	1	GPR110	6	46977895	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	14796984	46977895	124137172	54	2383											
CRISP3	10321	genome.wustl.edu	37	6	49704164	49704164	+	Silent	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr6:49704164C>T	ENST00000393666.1	-	2	135	c.129G>A	c.(127-129)gtG>gtA	p.V43V	CRISP3_ENST00000433368.2_Silent_p.V66V|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000263045.4_Silent_p.V56V|CRISP3_ENST00000371159.4_Silent_p.V74V			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	43	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.V43V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTGCTTATTCACAATCTCCC	0.413																																																1	Substitution - coding silent(1)	lung(1)	6											212	191	198					6																	49704164		2203	4300	6503	49812123	SO:0001819	synonymous_variant	10321			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.129G>A	6.37:g.49704164C>T			49812123	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37																																																																																					0.413	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		T	49704164	C	T	49704164	2	4	50	1	0	0	0	0	0	0	0	1	3881	813	29	2		2	CRISP3	6	49704164	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09	2726269	49704164	121410903	55	2384											
PKHD1	5314	genome.wustl.edu	37	6	51524437	51524437	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr6:51524437A>C	ENST00000371117.3	-	61	10762	c.10487T>G	c.(10486-10488)tTg>tGg	p.L3496W		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3496					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAATACAGCCAAGAGAAGCTT	0.448																																																0			6											64	65	65					6																	51524437		2203	4300	6503	51632396	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10487T>G	6.37:g.51524437A>C	ENSP00000360158:p.Leu3496Trp		51632396	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.805244	0.70682	.	.	ENSG00000170927	ENST00000371117	D	0.88277	-2.36	4.99	4.99	0.66335	.	0.000000	0.53938	D	0.000048	D	0.89354	0.6691	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91429	0.5164	10	0.87932	D	0	.	14.5799	0.68282	1.0:0.0:0.0:0.0	.	3496	P08F94	PKHD1_HUMAN	W	3496	ENSP00000360158:L3496W	ENSP00000360158:L3496W	L	-	2	0	PKHD1	51632396	0.567000	0.26626	0.980000	0.43619	0.937000	0.57800	5.892000	0.69790	2.177000	0.69029	0.533000	0.62120	TTG		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51524437	A	C	51524437	3	2	50	1	0	0	0	0	1	0	0	0	11971	131	5	5	1765	5	PKHD1	6	51524437	Missense_Mutation	SNP	A	TCGA-09-1674-01A-01W-0633-09	1820273	51524437	119590630	56	2385											
TMEM14A	28978	genome.wustl.edu	37	6	52546692	52546692	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr6:52546692G>A	ENST00000211314.4	+	3	305	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	51						integral component of membrane (GO:0016021)				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					AATGACAAACGAGATGTAAAA	0.418																																																0			6											215	179	191					6																	52546692		2203	4300	6503	52654651	SO:0001583	missense	28978			AF239771	CCDS4943.1	6p12.3	2008-02-05			ENSG00000096092	ENSG00000096092			21076	protein-coding gene	gene with protein product							Standard	NM_014051		Approved	PTD011, C6orf73	uc003pax.3	Q9Y6G1	OTTHUMG00000014856	ENST00000211314.4:c.152G>A	6.37:g.52546692G>A	ENSP00000211314:p.Arg51Gln		52654651	B2R552	Missense_Mutation	SNP	ENST00000211314.4	37	CCDS4943.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126195	0.56721	.	.	ENSG00000096092	ENST00000211314	T	0.41065	1.01	5.84	4.05	0.47172	.	0.117442	0.56097	D	0.000032	T	0.10121	0.0248	.	.	.	0.30729	N	0.747468	B	0.30179	0.271	B	0.26864	0.074	T	0.15809	-1.0424	9	0.12430	T	0.62	-21.0803	11.2884	0.49234	0.1537:0.0:0.8463:0.0	.	51	Q9Y6G1	TM14A_HUMAN	Q	51	ENSP00000211314:R51Q	ENSP00000211314:R51Q	R	+	2	0	TMEM14A	52654651	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.457000	0.53007	1.459000	0.47892	0.655000	0.94253	CGA		0.418	TMEM14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040916.1	NM_014051		A	52546692	G	A	52546692	3	1	50	1	0	0	0	0	1	0	0	0	16063	1058	37	1	158	1	TMEM14A	6	52546692	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	1022255	52546692	118568375	57	2386											
HCRTR2	3062	genome.wustl.edu	37	6	55113537	55113537	+	Silent	SNP	T	T	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr6:55113537T>G	ENST00000370862.3	+	2	660	c.324T>G	c.(322-324)ctT>ctG	p.L108L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	108					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCACCTGCCTTCCAGCCACAC	0.448																																																0			6											229	209	216					6																	55113537		2203	4299	6502	55221496	SO:0001819	synonymous_variant	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.324T>G	6.37:g.55113537T>G			55221496	Q5VTM0	Silent	SNP	ENST00000370862.3	37	CCDS4956.1																																																																																				0.448	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			G	55113537	T	G	55113537	2	3	50	1	0	0	0	0	0	0	0	1	7002	1770	62	5		5	HCRTR2	6	55113537	Silent	SNP	T	TCGA-09-1674-01A-01W-0633-09	2566845	55113537	116001530	58	2387											
KHDRBS2	202559	genome.wustl.edu	37	6	62688073	62688073	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr6:62688073C>G	ENST00000281156.4	-	4	659	c.381G>C	c.(379-381)ttG>ttC	p.L127F		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	127	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GCTCATCACTCAAGTGGGCAT	0.368																																																0			6											124	110	114					6																	62688073		2203	4300	6503	62746032	SO:0001583	missense	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.381G>C	6.37:g.62688073C>G	ENSP00000281156:p.Leu127Phe		62746032	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307101	0.81247	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.18016	2.24	5.46	5.46	0.80206	K Homology (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.34919	0.0914	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.15723	-1.0427	10	0.87932	D	0	-1.1753	12.6326	0.56665	0.0:0.9245:0.0:0.0755	.	127	Q5VWX1	KHDR2_HUMAN	F	127	ENSP00000281156:L127F	ENSP00000281156:L127F	L	-	3	2	KHDRBS2	62746032	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.977000	0.63792	2.569000	0.86673	0.650000	0.86243	TTG		0.368	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		G	62688073	C	G	62688073	3	3	50	1	0	0	0	0	1	0	0	0	8147	825	29	3	692	3	KHDRBS2	6	62688073	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	7574536	62688073	108426994	59	2388											
EIF3B	8662	genome.wustl.edu	37	7	2403340	2403340	+	Missense_Mutation	SNP	G	G	A	rs371362324		TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr7:2403340G>A	ENST00000360876.4	+	5	1000	c.944G>A	c.(943-945)cGc>cAc	p.R315H	EIF3B_ENST00000397011.2_Missense_Mutation_p.R315H	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AGTGGAGACCGCACTTCCATA	0.458																																																0			7						G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	81	77	78		944,944	5.8	1	7		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EIF3B	NM_001037283.1,NM_003751.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	315/815,315/815	2403340	1,13005	2203	4300	6503	2369866	SO:0001583	missense	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.944G>A	7.37:g.2403340G>A	ENSP00000354125:p.Arg315His		2369866		Missense_Mutation	SNP	ENST00000360876.4	37	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338643	0.60963	0.0	1.16E-4	ENSG00000106263	ENST00000431643;ENST00000314800;ENST00000360876;ENST00000413917;ENST00000397011;ENST00000489558	T;T;T;T	0.42513	2.76;0.97;0.97;0.97	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.36672	1.1	0.53688	D	0.999977	B;B	0.15719	0.011;0.014	B;B	0.15484	0.006;0.013	T	0.11421	-1.0588	10	0.52906	T	0.07	-27.302	20.1669	0.98153	0.0:0.0:1.0:0.0	.	276;315	A4D210;P55884	.;EIF3B_HUMAN	H	43;315;315;276;315;239	ENSP00000408062:R43H;ENSP00000354125:R315H;ENSP00000407785:R276H;ENSP00000380206:R315H	ENSP00000316638:R315H	R	+	2	0	EIF3B	2369866	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.610000	0.82949	2.770000	0.95276	0.650000	0.86243	CGC		0.458	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			A	2403340	G	A	2403340	3	1	50	1	0	0	0	0	1	0	0	0	5013	1087	38	1	962	1	EIF3B	7	2403340	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09		2403340	156735323	60	2389											
USP42	84132	genome.wustl.edu	37	7	6182631	6182631	+	Silent	SNP	G	G	C	rs376220078		TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr7:6182631G>C	ENST00000306177.5	+	8	1022	c.864G>C	c.(862-864)tcG>tcC	p.S288S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	288	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GAGAAAACTCGTACAAGTGCA	0.522																																																0			7											194	198	197					7																	6182631		2112	4231	6343	6149157	SO:0001819	synonymous_variant	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.864G>C	7.37:g.6182631G>C			6149157	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	CCDS47535.1																																																																																				0.522	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		C	6182631	G	C	6182631	2	2	50	1	0	0	0	0	0	0	0	1	17073	1132	40	3		3	USP42	7	6182631	Silent	SNP	G	TCGA-09-1674-01A-01W-0633-09	3779291	6182631	152956032	61	2390											
SCRN1	9805	genome.wustl.edu	37	7	29980346	29980346	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr7:29980346C>G	ENST00000426154.1	-	5	867	c.691G>C	c.(691-693)Gat>Cat	p.D231H	SCRN1_ENST00000242059.5_Missense_Mutation_p.D231H|SCRN1_ENST00000434476.2_Missense_Mutation_p.D251H|SCRN1_ENST00000409497.1_Missense_Mutation_p.D231H|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000425819.2_Missense_Mutation_p.D163H	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	231					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TCTAGATGATCCTCAACTGGA	0.498																																																0			7											135	130	131					7																	29980346		2203	4300	6503	29946871	SO:0001583	missense	9805			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.691G>C	7.37:g.29980346C>G	ENSP00000409068:p.Asp231His		29946871	A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453711	0.43531	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000434476;ENST00000421434	T;T;T;T;T;T	0.18960	3.22;3.22;3.07;3.22;3.21;2.18	5.76	5.76	0.90799	.	0.294131	0.33553	N	0.004799	T	0.25901	0.0631	L	0.36672	1.1	0.80722	D	1	B;B;B	0.34264	0.446;0.446;0.241	P;P;B	0.46419	0.516;0.516;0.315	T	0.03608	-1.1020	9	.	.	.	-5.4687	11.9332	0.52857	0.0:0.9202:0.0:0.0798	.	251;251;231	C9JPG0;B4DHM0;Q12765	.;.;SCRN1_HUMAN	H	231;231;163;35;231;251;231	ENSP00000242059:D231H;ENSP00000409068:D231H;ENSP00000414245:D163H;ENSP00000386872:D231H;ENSP00000388942:D251H;ENSP00000413184:D231H	.	D	-	1	0	SCRN1	29946871	1.000000	0.71417	0.989000	0.46669	0.074000	0.17049	3.212000	0.51145	2.721000	0.93114	0.591000	0.81541	GAT		0.498	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		G	29980346	C	G	29980346	3	3	50	1	0	0	0	0	1	0	0	0	13941	855	30	3	569	3	SCRN1	7	29980346	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	23797715	29980346	129158317	62	2391											
PDE1C	5137	genome.wustl.edu	37	7	31877578	31877578	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr7:31877578G>C	ENST00000396191.1	-	10	1443	c.988C>G	c.(988-990)Cga>Gga	p.R330G	PDE1C_ENST00000396182.2_Missense_Mutation_p.R330G|PDE1C_ENST00000321453.7_Missense_Mutation_p.R330G|PDE1C_ENST00000396184.3_Missense_Mutation_p.R330G|PDE1C_ENST00000396193.1_Missense_Mutation_p.R390G	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ACCAAGGTTCGAAACTCCCTT	0.388																																																0			7											172	176	174					7																	31877578		2203	4300	6503	31844103	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.988C>G	7.37:g.31877578G>C	ENSP00000379494:p.Arg330Gly		31844103	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447822	0.63178	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.75	5.75	0.90469	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.95210	0.8324	10	0.87932	D	0	.	14.4	0.67037	0.0:0.0:0.8155:0.1845	.	330;390;330	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	G	390;330;330;330;330	ENSP00000379496:R390G;ENSP00000379494:R330G;ENSP00000318105:R330G;ENSP00000379487:R330G;ENSP00000379485:R330G	ENSP00000318105:R330G	R	-	1	2	PDE1C	31844103	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.152000	0.64882	2.716000	0.92895	0.655000	0.94253	CGA		0.388	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			C	31877578	G	C	31877578	3	2	50	1	0	0	0	0	1	0	0	0	11635	1066	37	3	948	3	PDE1C	7	31877578	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	1897232	31877578	127261085	63	2392											
ZNF804B	219578	genome.wustl.edu	37	7	88963902	88963902	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr7:88963902C>T	ENST00000333190.4	+	4	2215	c.1606C>T	c.(1606-1608)Cca>Tca	p.P536S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	536							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATATCCGAAACCAAAGACGAT	0.363										HNSCC(36;0.09)																																						0			7											48	50	49					7																	88963902		2202	4298	6500	88801838	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1606C>T	7.37:g.88963902C>T	ENSP00000329638:p.Pro536Ser		88801838	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022402	0.54683	.	.	ENSG00000182348	ENST00000333190	T	0.20332	2.08	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000005	T	0.48223	0.1488	M	0.69823	2.125	0.46416	D	0.999032	D	0.89917	1.0	D	0.74674	0.984	T	0.44711	-0.9310	10	0.72032	D	0.01	-17.7365	19.253	0.93933	0.0:1.0:0.0:0.0	.	536	A4D1E1	Z804B_HUMAN	S	536	ENSP00000329638:P536S	ENSP00000329638:P536S	P	+	1	0	ZNF804B	88801838	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	5.597000	0.67577	2.785000	0.95823	0.655000	0.94253	CCA		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		T	88963902	C	T	88963902	3	4	50	1	0	0	0	0	1	0	0	0	18171	507	18	2	1620	2	ZNF804B	7	88963902	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	57086324	88963902	70174761	64	2393											
TMEM130	222865	genome.wustl.edu	37	7	98460786	98460786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr7:98460786C>T	ENST00000416379.2	-	2	327	c.323G>A	c.(322-324)tGg>tAg	p.W108*	TMEM130_ENST00000546258.1_Nonsense_Mutation_p.W89*|TMEM130_ENST00000339375.4_Nonsense_Mutation_p.W108*|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000450876.1_Nonsense_Mutation_p.W24*			Q8N3G9	TM130_HUMAN	transmembrane protein 130	108						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCAGTGACCCAGACAGAGAC	0.617																																																0			7											61	61	61					7																	98460786		2203	4300	6503	98298722	SO:0001587	stop_gained	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.323G>A	7.37:g.98460786C>T	ENSP00000413163:p.Trp108*		98298722	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Nonsense_Mutation	SNP	ENST00000416379.2	37	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207885	0.95033	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000546258;ENST00000445790	.	.	.	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-15.0099	13.3884	0.60809	0.0:1.0:0.0:0.0	.	.	.	.	X	108;108;24;89;24	.	ENSP00000341256:W108X	W	-	2	0	TMEM130	98298722	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	3.807000	0.55591	2.432000	0.82394	0.505000	0.49811	TGG		0.617	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		T	98460786	C	T	98460786	4	4	50	1	0	0	0	0	0	1	0	0	16043	595	21	2	1012	2	TMEM130	7	98460786	Nonsense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	9496884	98460786	60677877	65	2394											
GIMAP1	170575	genome.wustl.edu	37	7	150417434	150417434	+	Silent	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr7:150417434G>A	ENST00000307194.5	+	3	482	c.342G>A	c.(340-342)gcG>gcA	p.A114A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	114	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCCCACGCGCTGCTCCTGG	0.622																																																0			7											44	42	43					7																	150417434		2203	4300	6503	150048367	SO:0001819	synonymous_variant	170575			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.342G>A	7.37:g.150417434G>A			150048367	B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	CCDS5906.1																																																																																				0.622	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		A	150417434	G	A	150417434	2	1	50	1	0	0	0	0	0	0	0	1	6379	1074	38	1		1	GIMAP1	7	150417434	Silent	SNP	G	TCGA-09-1674-01A-01W-0633-09	51956648	150417434	8721229	66	2395											
AGAP3	116988	genome.wustl.edu	37	7	150840640	150840640	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr7:150840640C>A	ENST00000463381.1	+	15	1989	c.1493C>A	c.(1492-1494)tCc>tAc	p.S498Y	AGAP3_ENST00000397238.2_Missense_Mutation_p.S829Y	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	793	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.S829F(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CTACATCTCTCCAGTGCCATG	0.582																																																1	Substitution - Missense(1)	central_nervous_system(1)	7											102	110	107					7																	150840640		2163	4258	6421	150471573	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1493C>A	7.37:g.150840640C>A	ENSP00000418016:p.Ser498Tyr		150471573	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.18|17.18	3.324562|3.324562	0.60634|0.60634	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.65178	.|-0.14;-0.14	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Ankyrin repeat-containing domain (4);	.|0.189806	.|0.47455	.|D	.|0.000235	T|T	0.78761|0.78761	0.4334|0.4334	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.985;0.994;0.999;0.986	.|D;D;D;P	.|0.72338	.|0.956;0.961;0.977;0.876	T|T	0.80533|0.80533	-0.1340|-0.1340	5|10	.|0.87932	.|D	.|0	.|.	18.092|18.092	0.89478|0.89478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|793;328;829;498	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	T|Y	322|498;328;829;793	.|ENSP00000418016:S498Y;ENSP00000380413:S829Y	.|ENSP00000334157:S793Y	P|S	+|+	1|2	0|0	AGAP3|AGAP3	150471573|150471573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	7.646000|7.646000	0.83445|0.83445	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.582	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		A	150840640	C	A	150840640	3	1	50	1	0	0	0	0	1	0	0	0	369	855	30	3	2619	3	AGAP3	7	150840640	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	423206	150840640	8298023	67	2396											
KIAA1967	57805	genome.wustl.edu	37	8	22463648	22463648	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr8:22463648C>T	ENST00000308511.4	+	3	358	c.109C>T	c.(109-111)Cct>Tct	p.P37S	CCAR2_ENST00000389279.3_Missense_Mutation_p.P37S|CCAR2_ENST00000520861.1_5'Flank|CCAR2_ENST00000521301.1_Missense_Mutation_p.P37S			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	37					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GCTCACTCCTCCTGTGGCCAC	0.552																																																0			8											238	242	241					8																	22463648		2203	4300	6503	22519593	SO:0001583	missense	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.109C>T	8.37:g.22463648C>T	ENSP00000310670:p.Pro37Ser		22519593	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.515884|4.515884	0.85495|0.85495	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000521301;ENST00000389279;ENST00000521837;ENST00000523349|ENST00000523801	T;T|.	0.31510|.	1.49;1.49|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|T	0.40791|0.40791	0.1131|0.1131	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.25293|0.25293	-1.0136|-1.0136	10|5	0.59425|.	D|.	0.04|.	-16.4219|-16.4219	16.9036|16.9036	0.86119|0.86119	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	37|.	Q8N163|.	K1967_HUMAN|.	S|F	37|44	ENSP00000310670:P37S;ENSP00000373930:P37S|.	ENSP00000310670:P37S|.	P|S	+|+	1|2	0|0	KIAA1967|KIAA1967	22519593|22519593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.044000|4.044000	0.57361|0.57361	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.552	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		T	22463648	C	T	22463648	3	4	50	1	0	0	0	0	1	0	0	0	8265	855	30	2	115	2	KIAA1967	8	22463648	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09		22463648	123900374	68	2397											
KIF13B	23303	genome.wustl.edu	37	8	28976452	28976452	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr8:28976452G>T	ENST00000524189.1	-	30	3631	c.3593C>A	c.(3592-3594)gCg>gAg	p.A1198E	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1198					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGTCAAGGTCGCATCCCATCC	0.433																																																0			8											150	151	151					8																	28976452		1936	4144	6080	29032371	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3593C>A	8.37:g.28976452G>T	ENSP00000427900:p.Ala1198Glu		29032371	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737708	0.89573	.	.	ENSG00000197892	ENST00000524189	T	0.76578	-1.03	5.19	5.19	0.71726	.	0.107611	0.64402	D	0.000006	T	0.81211	0.4775	L	0.44542	1.39	0.80722	D	1	P	0.46277	0.875	P	0.52646	0.705	T	0.83027	-0.0164	10	0.87932	D	0	.	18.9152	0.92503	0.0:0.0:1.0:0.0	.	1198	F8VPJ2	.	E	1198	ENSP00000427900:A1198E	ENSP00000427900:A1198E	A	-	2	0	KIF13B	29032371	1.000000	0.71417	0.996000	0.52242	0.766000	0.43426	9.181000	0.94874	2.684000	0.91462	0.563000	0.77884	GCG		0.433	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			T	28976452	G	T	28976452	3	4	50	1	0	0	0	0	1	0	0	0	8275	1087	38	3	1931	3	KIF13B	8	28976452	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	6512804	28976452	117387570	69	2398											
ZFHX4	79776	genome.wustl.edu	37	8	77618037	77618037	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr8:77618037G>T	ENST00000521891.2	+	2	2162	c.1714G>T	c.(1714-1716)Gct>Tct	p.A572S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A572S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A572S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A572S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCACAGCTGCTCATCCAAG	0.562										HNSCC(33;0.089)																																						0			8											55	60	59					8																	77618037		2112	4231	6343	77780592	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1714G>T	8.37:g.77618037G>T	ENSP00000430497:p.Ala572Ser		77780592	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	9.500	1.102914	0.20632	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47528	0.84;0.89;0.86;0.85	5.49	2.64	0.31445	.	0.623232	0.13204	U	0.405738	T	0.19525	0.0469	N	0.03115	-0.41	0.25032	N	0.991264	B;B;B;B	0.09022	0.001;0.002;0.002;0.001	B;B;B;B	0.10450	0.001;0.003;0.003;0.005	T	0.26430	-1.0103	10	0.07644	T	0.81	.	6.7456	0.23460	0.1788:0.2976:0.5236:0.0	.	572;572;572;572	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	572	ENSP00000430497:A572S;ENSP00000399605:A572S;ENSP00000050961:A572S;ENSP00000430848:A572S	ENSP00000050961:A572S	A	+	1	0	ZFHX4	77780592	0.709000	0.27886	0.030000	0.17652	0.994000	0.84299	1.589000	0.36644	0.890000	0.36211	0.655000	0.94253	GCT		0.562	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77618037	G	T	77618037	3	4	50	1	0	0	0	0	1	0	0	0	17635	1319	46	3	1716	3	ZFHX4	8	77618037	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	48641585	77618037	68745985	70	2399											
RFX3	5991	genome.wustl.edu	37	9	3263047	3263047	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr9:3263047C>G	ENST00000382004.3	-	14	1804	c.1493G>C	c.(1492-1494)aGa>aCa	p.R498T	RFX3_ENST00000358730.2_Missense_Mutation_p.R498T|RFX3_ENST00000302303.1_Missense_Mutation_p.R498T	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	498					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CGACGTGTATCTTCGCAGAGT	0.483																																																0			9											163	139	147					9																	3263047		2203	4300	6503	3253047	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1493G>C	9.37:g.3263047C>G	ENSP00000371434:p.Arg498Thr		3253047	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336971	0.95758	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.79482	-0.1785	10	0.87932	D	0	-16.1179	20.8598	0.99761	0.0:1.0:0.0:0.0	.	498;498	P48380-2;P48380	.;RFX3_HUMAN	T	498;498;498;71	ENSP00000371434:R498T;ENSP00000351574:R498T;ENSP00000303847:R498T;ENSP00000400026:R71T	ENSP00000303847:R498T	R	-	2	0	RFX3	3253047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	AGA		0.483	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		G	3263047	C	G	3263047	3	3	50	1	0	0	0	0	1	0	0	0	13267	913	32	3	932	3	RFX3	9	3263047	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09		3263047	137950384	71	2400											
C9orf131	138724	genome.wustl.edu	37	9	35044783	35044783	+	Silent	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr9:35044783C>T	ENST00000312292.5	+	2	2204	c.2157C>T	c.(2155-2157)agC>agT	p.S719S	C9orf131_ENST00000354479.5_Silent_p.S646S|C9orf131_ENST00000421362.2_Silent_p.S671S|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	719										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AAGGCCCCAGCCCTCTGGCAG	0.552																																																0			9											63	62	62					9																	35044783		2203	4300	6503	35034783	SO:0001819	synonymous_variant	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2157C>T	9.37:g.35044783C>T			35034783	A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	CCDS6572.2																																																																																				0.552	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		T	35044783	C	T	35044783	2	4	50	1	0	0	0	0	0	0	0	1	2457	738	26	2		2	C9orf131	9	35044783	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09	31781736	35044783	106168648	72	2401											
OR1L4	254973	genome.wustl.edu	37	9	125486614	125486614	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr9:125486614C>A	ENST00000259466.1	+	1	346	c.346C>A	c.(346-348)Ctg>Atg	p.L116M		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CAGCTACCTGCTGGCCTCTAT	0.483																																																0			9											130	116	121					9																	125486614		2203	4300	6503	124526435	SO:0001583	missense	254973				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.346C>A	9.37:g.125486614C>A	ENSP00000259466:p.Leu116Met		124526435	Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.973120	0.53614	.	.	ENSG00000136939	ENST00000259466	T	0.02280	4.36	4.01	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000695	T	0.13030	0.0316	M	0.90252	3.1	0.37281	D	0.907846	D	0.89917	1.0	D	0.87578	0.998	T	0.01140	-1.1439	10	0.72032	D	0.01	-11.9654	8.4857	0.33069	0.0:0.8046:0.0:0.1954	.	116	Q8NGR5	OR1L4_HUMAN	M	116	ENSP00000259466:L116M	ENSP00000259466:L116M	L	+	1	2	OR1L4	124526435	0.007000	0.16637	0.998000	0.56505	0.914000	0.54420	0.192000	0.17096	0.370000	0.24538	0.298000	0.19748	CTG		0.483	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			A	125486614	C	A	125486614	3	1	50	1	0	0	0	0	1	0	0	0	10965	796	28	3	348	3	OR1L4	9	125486614	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	90441831	125486614	15726817	73	2402											
GAPVD1	26130	genome.wustl.edu	37	9	128083712	128083712	+	Splice_Site	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr9:128083712G>A	ENST00000495955.1	+	10	1893	c.1603G>A	c.(1603-1605)Gtc>Atc	p.V535I	GAPVD1_ENST00000297933.6_Splice_Site_p.V535I|GAPVD1_ENST00000265956.4_Splice_Site_p.V535I|GAPVD1_ENST00000312123.9_Splice_Site_p.V535I|GAPVD1_ENST00000470056.1_Splice_Site_p.V535I|GAPVD1_ENST00000394105.2_Splice_Site_p.V535I|GAPVD1_ENST00000394083.2_Splice_Site_p.V535I|GAPVD1_ENST00000394104.2_Splice_Site_p.V535I			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	535					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATTTTTTAGGTCCTAAACAT	0.353																																																0			9											105	98	101					9																	128083712		2203	4300	6503	127123533	SO:0001630	splice_region_variant	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1603-1G>A	9.37:g.128083712G>A			127123533	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.114140|4.114140	0.77210|0.77210	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|T;T;T;T;T;T;T;T;T	.|0.14766	.|2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25382|0.25382	0.0617|0.0617	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;D	.|0.53312	.|0.902;0.841;0.902;0.902;0.902;0.959	.|D;P;P;P;P;D	.|0.67103	.|0.927;0.846;0.893;0.893;0.893;0.949	T|T	0.01345|0.01345	-1.1379|-1.1379	5|9	.|.	.|.	.|.	.|.	18.4402|18.4402	0.90664|0.90664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|535;535;535;535;535;535	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.;GAPD1_HUMAN;.;.;.;.	D|I	392|535	.|ENSP00000419767:V535I;ENSP00000377665:V535I;ENSP00000377664:V535I;ENSP00000265956:V535I;ENSP00000377645:V535I;ENSP00000419063:V535I;ENSP00000418747:V535I;ENSP00000297933:V535I;ENSP00000309582:V535I	.|.	G|V	+|+	2|1	0|0	GAPVD1|GAPVD1	127123533|127123533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.579000|0.579000	0.36224|0.36224	7.393000|7.393000	0.79851|0.79851	2.603000|2.603000	0.88011|0.88011	0.563000|0.563000	0.77884|0.77884	GGT|GTC		0.353	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		Missense_Mutation	A	128083712	G	A	128083712	5	1	50	1	0	0	0	0	0	0	1	0	6239	1275	44	2	1629	2	GAPVD1	9	128083712	Splice_Site	SNP	G	TCGA-09-1674-01A-01W-0633-09	2597098	128083712	13129719	74	2403											
C10orf68	79741	genome.wustl.edu	37	10	33135314	33135314	+	Silent	SNP	A	A	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr10:33135314A>G	ENST00000375030.2	+	18	1839	c.1221A>G	c.(1219-1221)aaA>aaG	p.K407K	C10orf68_ENST00000375025.4_Silent_p.K512K|C10orf68_ENST00000375028.3_Silent_p.K452K			Q9H943	CJ068_HUMAN		448										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGACTGATAAAGAACTCTTAA	0.289																																																0			10											40	45	43					10																	33135314		2197	4274	6471	33175320	SO:0001819	synonymous_variant	79741																														ENST00000375030.2:c.1221A>G	10.37:g.33135314A>G			33175320	B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	ENST00000375030.2	37																																																																																					0.289	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			G	33135314	A	G	33135314	2	3	50	1	0	0	0	0	0	0	0	1	1613	69	3	4		4	C10orf68	10	33135314	Silent	SNP	A	TCGA-09-1674-01A-01W-0633-09		33135314	102399433	75	2404											
PDZD7	79955	genome.wustl.edu	37	10	102777951	102777951	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr10:102777951C>A	ENST00000370215.3	-	9	1652	c.1427G>T	c.(1426-1428)cGg>cTg	p.R476L		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	476						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCTCCCCTGCCGCCCTCCCTT	0.632																																																0			10											68	67	68					10																	102777951		2203	4300	6503	102767941	SO:0001583	missense	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1427G>T	10.37:g.102777951C>A	ENSP00000359234:p.Arg476Leu		102767941	D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	CCDS31269.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.36|12.36	1.914014|1.914014	0.33815|0.33815	.|.	.|.	ENSG00000186862|ENSG00000186862	ENST00000433616|ENST00000393462;ENST00000370215	.|T	.|0.17854	.|2.25	4.12|4.12	3.11|3.11	0.35812|0.35812	.|.	.|2.500720	.|0.01350	.|N	.|0.011899	T|T	0.16981|0.16981	0.0408|0.0408	L|L	0.42245|0.42245	1.32|1.32	0.33396|0.33396	D|D	0.576742|0.576742	.|B;P	.|0.36438	.|0.418;0.553	.|B;B	.|0.32624	.|0.149;0.138	T|T	0.43180|0.43180	-0.9407|-0.9407	5|10	.|0.87932	.|D	.|0	.|.	6.0004|6.0004	0.19517|0.19517	0.0:0.855:0.0:0.145|0.0:0.855:0.0:0.145	.|.	.|476;476	.|Q9H5P4;Q9H5P4-2	.|PDZD7_HUMAN;.	C|L	51|476	.|ENSP00000359234:R476L	.|ENSP00000359234:R476L	G|R	-|-	1|2	0|0	PDZD7|PDZD7	102767941|102767941	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.058000|0.058000	0.15608|0.15608	2.755000|2.755000	0.47540|0.47540	2.117000|2.117000	0.64856|0.64856	0.555000|0.555000	0.69702|0.69702	GGC|CGG		0.632	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		A	102777951	C	A	102777951	3	1	50	1	0	0	0	0	1	0	0	0	11704	652	23	3	134	3	PDZD7	10	102777951	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	69642637	102777951	32756796	76	2405											
SH3PXD2A	9644	genome.wustl.edu	37	10	105362427	105362427	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr10:105362427C>T	ENST00000369774.4	-	15	2824	c.2548G>A	c.(2548-2550)Gcc>Acc	p.A850T	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A717T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A685T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A822T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	850	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCTGGTAGGCGCTGCATGTC	0.617																																																0			10											68	69	68					10																	105362427		2203	4300	6503	105352417	SO:0001583	missense	9644			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2548G>A	10.37:g.105362427C>T	ENSP00000358789:p.Ala850Thr		105352417	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.328|3.328	-0.137227|-0.137227	0.06711|0.06711	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74|.	4.83|4.83	2.8|2.8	0.32819|0.32819	Src homology-3 domain (3);|.	0.629728|.	0.16897|.	N|.	0.195081|.	T|T	0.34106|0.34106	0.0886|0.0886	L|L	0.38953|0.38953	1.18|1.18	0.20638|0.20638	N|N	0.999874|0.999874	D;D;P;D|.	0.56746|.	0.977;0.977;0.53;0.972|.	P;P;B;B|.	0.45998|.	0.5;0.5;0.115;0.367|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.33940|.	T|.	0.23|.	-20.9225|-20.9225	6.4044|6.4044	0.21656|0.21656	0.4904:0.4188:0.0:0.0908|0.4904:0.4188:0.0:0.0908	.|.	850;699;695;822|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|H	850;822;657;765;717;685|776	ENSP00000358789:A850T;ENSP00000348215:A822T;ENSP00000443663:A717T;ENSP00000441514:A685T|.	ENSP00000318135:A657T|.	A|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105352417|105352417	0.022000|0.022000	0.18835|0.18835	0.786000|0.786000	0.31890|0.31890	0.642000|0.642000	0.38348|0.38348	0.254000|0.254000	0.18314|0.18314	1.020000|1.020000	0.39573|0.39573	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.617	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		T	105362427	C	T	105362427	3	4	50	1	0	0	0	0	1	0	0	0	14259	768	27	1	857	1	SH3PXD2A	10	105362427	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	2584476	105362427	30172320	77	2406											
COL17A1	1308	genome.wustl.edu	37	10	105811961	105811961	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr10:105811961G>T	ENST00000353479.5	-	24	2244	c.1954C>A	c.(1954-1956)Cca>Aca	p.P652T	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Missense_Mutation_p.P652T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	652	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAGGACCTGGTTCACCAGCA	0.572																																																0			10											151	153	152					10																	105811961		2203	4300	6503	105801951	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1954C>A	10.37:g.105811961G>T	ENSP00000340937:p.Pro652Thr		105801951	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	8.220	0.802289	0.16397	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.98666	-5.06;-5.06	5.39	2.36	0.29203	.	0.305106	0.23275	N	0.049968	D	0.96361	0.8813	L	0.58101	1.795	0.19575	N	0.999967	P	0.35433	0.501	B	0.28139	0.086	D	0.89973	0.4095	10	0.34782	T	0.22	-0.8413	11.4357	0.50066	0.0705:0.4913:0.4382:0.0	.	652	Q9UMD9	COHA1_HUMAN	T	652	ENSP00000340937:P652T;ENSP00000358748:P652T	ENSP00000340937:P652T	P	-	1	0	COL17A1	105801951	0.977000	0.34250	0.001000	0.08648	0.254000	0.26022	2.369000	0.44231	0.204000	0.20548	0.555000	0.69702	CCA		0.572	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		T	105811961	G	T	105811961	3	4	50	1	0	0	0	0	1	0	0	0	3674	1261	44	3	2671	3	COL17A1	10	105811961	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	449534	105811961	29722786	78	2407											
WDR11	55717	genome.wustl.edu	37	10	122663571	122663571	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr10:122663571G>C	ENST00000263461.6	+	24	3190	c.2944G>C	c.(2944-2946)Gaa>Caa	p.E982Q	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATTTCAGCTAGAAAGGGTTAA	0.308																																																0			10											80	82	81					10																	122663571		2203	4300	6503	122653561	SO:0001583	missense	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2944G>C	10.37:g.122663571G>C	ENSP00000263461:p.Glu982Gln		122653561	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299993	0.81136	.	.	ENSG00000120008	ENST00000263461	D	0.92099	-2.97	5.86	5.86	0.93980	.	0.053117	0.85682	D	0.000000	D	0.94328	0.8177	L	0.58101	1.795	0.80722	D	1	P;P;D;D	0.61080	0.935;0.849;0.989;0.964	P;B;P;P	0.55923	0.494;0.309;0.787;0.522	D	0.94002	0.7276	10	0.59425	D	0.04	-29.0488	20.1802	0.98196	0.0:0.0:1.0:0.0	.	982;982;273;511	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	Q	982	ENSP00000263461:E982Q	ENSP00000263461:E982Q	E	+	1	0	WDR11	122653561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.816000	0.91979	2.777000	0.95525	0.655000	0.94253	GAA		0.308	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			C	122663571	G	C	122663571	3	2	50	1	0	0	0	0	1	0	0	0	17273	943	33	3	3038	3	WDR11	10	122663571	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	16851610	122663571	12871176	79	2408											
TTC17	55761	genome.wustl.edu	37	11	43511797	43511797	+	Silent	SNP	G	G	A	rs375047326		TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr11:43511797G>A	ENST00000039989.4	+	22	3053	c.3039G>A	c.(3037-3039)acG>acA	p.T1013T		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1013					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGAACCAGACGTCCTGGGTCC	0.502																																																0			11											115	95	101					11																	43511797		2203	4300	6503	43468373	SO:0001819	synonymous_variant	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3039G>A	11.37:g.43511797G>A			43468373	G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	5.748	0.322521	0.10900	.	.	ENSG00000052841	ENST00000418561	.	.	.	5.66	-11.3	0.00108	.	.	.	.	.	T	0.37679	0.1012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62334	-0.6876	4	.	.	.	-12.9671	2.4788	0.04582	0.4157:0.2022:0.0677:0.3144	.	.	.	.	H	44	.	.	R	+	2	0	TTC17	43468373	0.000000	0.05858	0.001000	0.08648	0.896000	0.52359	-3.651000	0.00403	-5.751000	0.00010	-1.631000	0.00782	CGT		0.502	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		A	43511797	G	A	43511797	2	1	50	1	0	0	0	0	0	0	0	1	16684	1132	40	1		1	TTC17	11	43511797	Silent	SNP	G	TCGA-09-1674-01A-01W-0633-09		43511797	91494719	80	2409											
OR4C13	283092	genome.wustl.edu	37	11	49974161	49974161	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr11:49974161T>C	ENST00000555099.1	+	1	219	c.187T>C	c.(187-189)Tat>Cat	p.Y63H		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTTCCTGGCCTATCTCTCCTT	0.428																																																0			11											247	225	233					11																	49974161		2201	4296	6497	49930737	SO:0001583	missense	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.187T>C	11.37:g.49974161T>C	ENSP00000452277:p.Tyr63His		49930737	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	0.022	-1.410238	0.01145	.	.	ENSG00000258817	ENST00000555099	T	0.02974	4.09	2.95	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001053	T	0.01029	0.0034	N	0.02357	-0.585	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47100	-0.9143	9	.	.	.	.	2.4201	0.04446	0.2387:0.14:0.0:0.6213	.	63	Q8NGP0	OR4CD_HUMAN	H	63	ENSP00000452277:Y63H	.	Y	+	1	0	OR4C13	49930737	0.000000	0.05858	0.638000	0.29380	0.095000	0.18619	-1.054000	0.03496	0.359000	0.24239	0.164000	0.16699	TAT		0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		C	49974161	T	C	49974161	3	2	50	1	0	0	0	0	1	0	0	0	11047	1522	53	4	189	4	OR4C13	11	49974161	Missense_Mutation	SNP	T	TCGA-09-1674-01A-01W-0633-09	6462364	49974161	85032355	81	2410											
SORL1	6653	genome.wustl.edu	37	11	121393325	121393325	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr11:121393325C>A	ENST00000260197.7	+	10	1564	c.1435C>A	c.(1435-1437)Cag>Aag	p.Q479K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	479					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCATCTGGCTCAGCGCCTCAG	0.562																																																0			11											182	161	168					11																	121393325		2203	4299	6502	120898535	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1435C>A	11.37:g.121393325C>A	ENSP00000260197:p.Gln479Lys		120898535	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370140	0.95900	.	.	ENSG00000137642	ENST00000260197	T	0.28895	1.59	5.48	5.48	0.80851	VPS10 (1);	0.059987	0.64402	D	0.000002	T	0.44350	0.1289	M	0.70595	2.14	0.80722	D	1	D	0.54207	0.965	P	0.46758	0.526	T	0.50065	-0.8871	10	0.87932	D	0	.	19.3435	0.94355	0.0:1.0:0.0:0.0	.	479	Q92673	SORL_HUMAN	K	479	ENSP00000260197:Q479K	ENSP00000260197:Q479K	Q	+	1	0	SORL1	120898535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.473000	0.81007	2.569000	0.86673	0.591000	0.81541	CAG		0.562	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		A	121393325	C	A	121393325	3	1	50	1	0	0	0	0	1	0	0	0	14937	827	29	3	1473	3	SORL1	11	121393325	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	71419164	121393325	13613191	82	2411											
KCNA5	3741	genome.wustl.edu	37	12	5154463	5154463	+	Missense_Mutation	SNP	G	G	A	rs76708779	byFrequency	TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:5154463G>A	ENST00000252321.3	+	1	1379	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	384	Poly-Gly.				atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCCAGGGGGTGGAGGAGGCGG	0.622													G|||	19	0.00379393	0.0129	0.0029	5008	,	,		17524	0		0	False		,,,				2504	0															0			12						G	ARG/GLY	65,4341	49.6+/-84.7	2,61,2140	56	52	53		1150	4.6	0.1	12	dbSNP_131	53	4,8596	2.2+/-6.3	0,4,4296	no	missense	KCNA5	NM_002234.2	125	2,65,6436	AA,AG,GG		0.0465,1.4753,0.5305	possibly-damaging	384/614	5154463	69,12937	2203	4300	6503	5024724	SO:0001583	missense	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1150G>A	12.37:g.5154463G>A	ENSP00000252321:p.Gly384Arg		5024724	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	CCDS8536.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	9.502	1.103540	0.20632	0.014753	4.65E-4	ENSG00000130037	ENST00000252321	D	0.97710	-4.5	4.62	4.62	0.57501	Ion transport (1);	2.171590	0.03002	U	0.148348	D	0.94794	0.8319	N	0.05050	-0.12	0.09310	N	0.999996	D	0.54964	0.969	P	0.59288	0.855	D	0.90671	0.4598	10	0.45353	T	0.12	.	8.6668	0.34125	0.1726:0.0:0.8274:0.0	.	384	P22460	KCNA5_HUMAN	R	384	ENSP00000252321:G384R	ENSP00000252321:G384R	G	+	1	0	KCNA5	5024724	0.030000	0.19436	0.120000	0.21714	0.199000	0.23934	1.527000	0.35975	2.390000	0.81377	0.561000	0.74099	GGA		0.622	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		A	5154463	G	A	5154463	3	1	50	1	0	0	0	0	1	0	0	0	8006	1349	47	2	1152	2	KCNA5	12	5154463	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09		5154463	128697432	83	2412											
CHD4	1108	genome.wustl.edu	37	12	6710173	6710173	+	Silent	SNP	A	A	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:6710173A>G	ENST00000357008.2	-	7	1009	c.846T>C	c.(844-846)gaT>gaC	p.D282D	CHD4_ENST00000309577.6_Silent_p.D282D|CHD4_ENST00000544040.1_Silent_p.D275D|CHD4_ENST00000544484.1_Silent_p.D279D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	282					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCTTCTTGGCATCAGGTACAC	0.493																																					Colon(32;586 792 4568 16848 45314)											0			12											196	195	195					12																	6710173		2203	4300	6503	6580434	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.846T>C	12.37:g.6710173A>G			6580434	Q8IXZ5	Silent	SNP	ENST00000357008.2	37	CCDS8552.1																																																																																				0.493	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		G	6710173	A	G	6710173	2	3	50	1	0	0	0	0	0	0	0	1	3327	214	8	4		4	CHD4	12	6710173	Silent	SNP	A	TCGA-09-1674-01A-01W-0633-09	1555710	6710173	127141722	84	2413											
FOXJ2	55810	genome.wustl.edu	37	12	8205406	8205406	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:8205406A>T	ENST00000162391.3	+	11	2830	c.1685A>T	c.(1684-1686)gAg>gTg	p.E562V	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	562					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGTGCCAATGAGGAGATCCCT	0.527																																																0			12											82	60	67					12																	8205406		2203	4300	6503	8096673	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1685A>T	12.37:g.8205406A>T	ENSP00000162391:p.Glu562Val		8096673	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410604	0.83340	.	.	ENSG00000065970	ENST00000162391	D	0.95724	-3.79	5.85	5.85	0.93711	.	0.550760	0.16255	N	0.222502	D	0.95664	0.8590	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	D	0.95495	0.8572	10	0.87932	D	0	.	14.1838	0.65592	1.0:0.0:0.0:0.0	.	562	Q9P0K8	FOXJ2_HUMAN	V	562	ENSP00000162391:E562V	ENSP00000162391:E562V	E	+	2	0	FOXJ2	8096673	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	6.561000	0.73955	2.237000	0.73441	0.528000	0.53228	GAG		0.527	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		T	8205406	A	T	8205406	3	4	50	1	0	0	0	0	1	0	0	0	6012	304	11	5	1723	5	FOXJ2	12	8205406	Missense_Mutation	SNP	A	TCGA-09-1674-01A-01W-0633-09	1495233	8205406	125646489	85	2414											
ALG10	84920	genome.wustl.edu	37	12	34179087	34179087	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:34179087T>C	ENST00000266483.2	+	3	978	c.659T>C	c.(658-660)cTt>cCt	p.L220P	AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	220					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GAAGACAGACTTCCACCTATT	0.378																																																0			12											98	104	102					12																	34179087		2203	4299	6502	34070354	SO:0001583	missense	84920			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"	603313	"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.659T>C	12.37:g.34179087T>C	ENSP00000266483:p.Leu220Pro		34070354	Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	T	0.522	-0.861682	0.02610	.	.	ENSG00000139133	ENST00000266483	T	0.33654	1.4	2.91	1.72	0.24424	.	0.478331	0.23426	N	0.048320	T	0.26448	0.0646	L	0.52126	1.63	0.50467	D	0.999873	B	0.02656	0.0	B	0.01281	0.0	T	0.05954	-1.0854	10	0.29301	T	0.29	.	4.9951	0.14235	0.0:0.1563:0.0:0.8437	.	220	Q5BKT4	AG10A_HUMAN	P	220	ENSP00000266483:L220P	ENSP00000266483:L220P	L	+	2	0	ALG10	34070354	0.584000	0.26766	0.196000	0.23383	0.026000	0.11368	1.367000	0.34204	0.194000	0.20326	0.155000	0.16302	CTT		0.378	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		C	34179087	T	C	34179087	3	2	50	1	0	0	0	0	1	0	0	0	511	1609	56	4	669	4	ALG10	12	34179087	Missense_Mutation	SNP	T	TCGA-09-1674-01A-01W-0633-09	25973681	34179087	99672808	86	2415											
GPD1	2819	genome.wustl.edu	37	12	50500685	50500685	+	Silent	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:50500685C>A	ENST00000301149.3	+	5	829	c.597C>A	c.(595-597)atC>atA	p.I199I	GPD1_ENST00000548814.1_Silent_p.I176I|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	199					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGTAGAGATCTGTGGAGCCT	0.572																																					NSCLC(141;1402 1905 9497 13391 44868)											0			12											64	55	58					12																	50500685		2203	4300	6503	48786952	SO:0001819	synonymous_variant	2819				CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.597C>A	12.37:g.50500685C>A			48786952	F8W1L5|Q8N1B0	Silent	SNP	ENST00000301149.3	37	CCDS8799.1																																																																																				0.572	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			A	50500685	C	A	50500685	2	1	50	1	0	0	0	0	0	0	0	1	6604	903	32	3		3	GPD1	12	50500685	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09	16321598	50500685	83351210	87	2416											
SILV	6490	genome.wustl.edu	37	12	56355485	56355485	+	Silent	SNP	T	T	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:56355485T>G	ENST00000548747.1	-	2	770	c.108A>C	c.(106-108)tcA>tcC	p.S36S	PMEL_ENST00000552882.1_Silent_p.S36S|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_Silent_p.S36S|PMEL_ENST00000449260.2_Silent_p.S36S|PMEL_ENST00000536427.1_Silent_p.S36S|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000548493.1_Silent_p.S36S			P40967	PMEL_HUMAN	premelanosome protein	36					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAGTTGCCTTGAGACACCAA	0.502																																																0			12											98	98	98					12																	56355485		2203	4300	6503	54641752	SO:0001819	synonymous_variant	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.108A>C	12.37:g.56355485T>G			54641752	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	ENST00000548747.1	37	CCDS8897.1																																																																																				0.502	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		G	56355485	T	G	56355485	2	3	50	1	0	0	0	0	0	0	0	1	14325	1799	63	5		5	SILV	12	56355485	Silent	SNP	T	TCGA-09-1674-01A-01W-0633-09	5854800	56355485	77496410	88	2417											
GNPTAB	79158	genome.wustl.edu	37	12	102190522	102190522	+	Nonsense_Mutation	SNP	G	G	A	rs78347057	byFrequency	TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:102190522G>A	ENST00000299314.7	-	2	398	c.136C>T	c.(136-138)Cga>Tga	p.R46*	GNPTAB_ENST00000549940.1_Nonsense_Mutation_p.R46*|GNPTAB_ENST00000549165.1_Nonsense_Mutation_p.R46*|RNU6-172P_ENST00000411000.1_RNA|GNPTAB_ENST00000392919.4_Nonsense_Mutation_p.R46*	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	46					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TATTGATCTCGGCTCCATTCC	0.323																																																0			12											107	107	107					12																	102190522		2203	4300	6503	100714653	SO:0001587	stop_gained	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.136C>T	12.37:g.102190522G>A	ENSP00000299314:p.Arg46*		100714653	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Nonsense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802943	0.96960	.	.	ENSG00000111670	ENST00000299314;ENST00000549940;ENST00000547090;ENST00000392919;ENST00000549165	.	.	.	5.83	3.97	0.46021	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.873	14.2421	0.65963	0.0:0.0:0.502:0.498	.	.	.	.	X	46	.	ENSP00000299314:R46X	R	-	1	2	GNPTAB	100714653	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	1.737000	0.38197	0.778000	0.33520	-0.268000	0.10319	CGA		0.323	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			A	102190522	G	A	102190522	4	1	50	1	0	0	0	0	0	1	0	0	6545	1124	39	1	3714	1	GNPTAB	12	102190522	Nonsense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	45835037	102190522	31661373	89	2418											
MED13L	23389	genome.wustl.edu	37	12	116675342	116675342	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:116675342T>C	ENST00000281928.3	-	2	447	c.241A>G	c.(241-243)Aaa>Gaa	p.K81E	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	81						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CATAACTCTTTGCAATCTGGT	0.423																																																0			12											153	138	143					12																	116675342		2203	4300	6503	115159725	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.241A>G	12.37:g.116675342T>C	ENSP00000281928:p.Lys81Glu		115159725	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781922	0.70222	.	.	ENSG00000123066	ENST00000281928;ENST00000548743	T;T	0.80480	-1.38;-1.38	5.57	5.57	0.84162	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.64402	D	0.000002	T	0.79919	0.4529	L	0.58510	1.815	0.42842	D	0.994052	B	0.33135	0.399	B	0.35859	0.212	T	0.81488	-0.0910	10	0.87932	D	0	.	15.7209	0.77710	0.0:0.0:0.0:1.0	.	81	Q71F56	MD13L_HUMAN	E	81;71	ENSP00000281928:K81E;ENSP00000448553:K71E	ENSP00000281928:K81E	K	-	1	0	MED13L	115159725	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.210000	0.72176	2.123000	0.65237	0.459000	0.35465	AAA		0.423	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			C	116675342	T	C	116675342	3	2	50	1	0	0	0	0	1	0	0	0	9431	1821	63	4	6511	4	MED13L	12	116675342	Missense_Mutation	SNP	T	TCGA-09-1674-01A-01W-0633-09	14484820	116675342	17176553	90	2419											
KSR2	283455	genome.wustl.edu	37	12	117996329	117996329	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:117996329G>C	ENST00000339824.5	-	8	2102	c.1375C>G	c.(1375-1377)Ctg>Gtg	p.L459V	KSR2_ENST00000425217.1_Missense_Mutation_p.L430V|KSR2_ENST00000302438.5_Missense_Mutation_p.L156V|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	459					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGATGATCAGAAGATGACAG	0.512																																																0			12											135	132	133					12																	117996329		1889	4127	6016	116480712	SO:0001583	missense	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1375C>G	12.37:g.117996329G>C	ENSP00000339952:p.Leu459Val		116480712	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	G	14.57	2.575161	0.45902	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.57595	0.39;0.39;0.39	4.89	3.99	0.46301	.	0.000000	0.64402	D	0.000006	T	0.44286	0.1286	N	0.22421	0.69	0.48762	D	0.999702	P	0.42248	0.774	P	0.46510	0.519	T	0.35151	-0.9800	10	0.44086	T	0.13	.	10.5501	0.45083	0.1622:0.0:0.8378:0.0	.	459	Q6VAB6	KSR2_HUMAN	V	430;459;156;131	ENSP00000389715:L430V;ENSP00000339952:L459V;ENSP00000305466:L156V	ENSP00000305466:L156V	L	-	1	2	KSR2	116480712	1.000000	0.71417	0.999000	0.59377	0.695000	0.40330	3.745000	0.55119	1.013000	0.39391	0.462000	0.41574	CTG		0.512	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		C	117996329	G	C	117996329	3	2	50	1	0	0	0	0	1	0	0	0	8582	933	33	3	1529	3	KSR2	12	117996329	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	1320987	117996329	15855566	91	2420											
KSR2	283455	genome.wustl.edu	37	12	118198938	118198938	+	Silent	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr12:118198938C>T	ENST00000339824.5	-	4	1591	c.864G>A	c.(862-864)ccG>ccA	p.P288P	KSR2_ENST00000425217.1_Silent_p.P259P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	288	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGGTCCCCGGGGGCTTCA	0.682																																																0			12											101	121	114					12																	118198938		1887	4102	5989	116683321	SO:0001819	synonymous_variant	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.864G>A	12.37:g.118198938C>T			116683321	A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37																																																																																					0.682	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		T	118198938	C	T	118198938	2	4	50	1	0	0	0	0	0	0	0	1	8582	639	23	1		1	KSR2	12	118198938	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09	202609	118198938	15652957	92	2421											
RB1	5925	genome.wustl.edu	37	13	48951157	48951157	+	Frame_Shift_Del	DEL	A	A	-			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr13:48951157delA	ENST00000267163.4	+	13	1457	c.1319delA	c.(1318-1320)gaafs	p.E440fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	440	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGTTGTGTCGAAATTGGATCA	0.343		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	13											107	115	112					13																	48951157		2203	4299	6502	47849158	SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1319delA	13.37:g.48951157delA	ENSP00000267163:p.Glu440fs		47849158	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48951157	A	-	48951157	7	5	50	1	0	1	0	1	0	0	0	0	13101	246	9	0	1369	0	RB1	13	48951157	Frame_Shift_Del	DEL	A	TCGA-09-1674-01A-01W-0633-09		48951157	66218721	93	2422											
POU4F1	5457	genome.wustl.edu	37	13	79175778	79175778	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr13:79175778C>G	ENST00000377208.5	-	2	1243	c.1032G>C	c.(1030-1032)atG>atC	p.M344I	RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	344					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CAGGCTTGTTCATTTTCTCGC	0.647																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)											0			13											28	30	29					13																	79175778		2203	4300	6503	78073779	SO:0001583	missense	5457			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"Homeoboxes / POU class"	9218	protein-coding gene	gene with protein product		601632	"POU domain class 4, transcription factor 1"	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1032G>C	13.37:g.79175778C>G	ENSP00000366413:p.Met344Ile		78073779	Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048216	0.36181	.	.	ENSG00000152192	ENST00000377208	D	0.83673	-1.75	4.14	1.79	0.24919	Homeodomain-related (1);Homeodomain-like (1);	0.102493	0.64402	D	0.000003	T	0.70020	0.3176	L	0.33293	1	0.38227	D	0.940935	B	0.12013	0.005	B	0.11329	0.006	T	0.58375	-0.7647	10	0.33940	T	0.23	.	6.0412	0.19736	0.0:0.541:0.3202:0.1388	.	344	Q01851	PO4F1_HUMAN	I	344	ENSP00000366413:M344I	ENSP00000366413:M344I	M	-	3	0	POU4F1	78073779	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	4.730000	0.62015	0.102000	0.17638	0.499000	0.49734	ATG		0.647	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			G	79175778	C	G	79175778	3	3	50	1	0	0	0	0	1	0	0	0	12278	826	29	3	231	3	POU4F1	13	79175778	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	30224621	79175778	35994100	94	2423											
AP1G2	8906	genome.wustl.edu	37	14	24036406	24036406	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr14:24036406G>A	ENST00000308724.5	-	1	873	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.R40C	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	40					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCCCCGTCGCGGAAGGAGGCC	0.627											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			14											70	60	63					14																	24036406		2203	4300	6503	23106246	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.118C>T	14.37:g.24036406G>A	ENSP00000312442:p.Arg40Cys	768	23106246	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604407	0.87157	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189;ENST00000556843	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	4.09	4.09	0.47781	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75348	-0.3349	10	0.87932	D	0	-15.1385	14.1527	0.65398	0.0:0.0:1.0:0.0	.	40	O75843	AP1G2_HUMAN	C	40	ENSP00000312442:R40C;ENSP00000380309:R40C;ENSP00000452153:R40C;ENSP00000451504:R40C	ENSP00000312442:R40C	R	-	1	0	AP1G2	23106246	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.779000	0.47734	2.273000	0.75805	0.436000	0.28706	CGC		0.627	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		A	24036406	G	A	24036406	3	1	50	1	0	0	0	0	1	0	0	0	733	1116	39	1	2323	1	AP1G2	14	24036406	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09		24036406	83313134	95	2424											
TRPM1	4308	genome.wustl.edu	37	15	31334407	31334407	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr15:31334407T>C	ENST00000256552.6	-	17	1981	c.1834A>G	c.(1834-1836)Aag>Gag	p.K612E	TRPM1_ENST00000542188.1_Missense_Mutation_p.K629E|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.K590E	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		tcctttttcttctttttcttt	0.468																																																0			15											47	50	49					15																	31334407		2059	4215	6274	29121699	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1834A>G	15.37:g.31334407T>C	ENSP00000256552:p.Lys612Glu		29121699		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909963	0.72983	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.64260	-0.09;-0.09;-0.09	4.72	4.72	0.59763	.	0.049413	0.85682	D	0.000000	T	0.54143	0.1840	L	0.46157	1.445	0.54753	D	0.99998	B;P	0.37233	0.288;0.588	B;B	0.32677	0.097;0.15	T	0.61898	-0.6968	10	0.87932	D	0	-31.7136	14.1734	0.65525	0.0:0.0:0.0:1.0	.	584;590	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	E	590;629;612;590	ENSP00000380897:K590E;ENSP00000437849:K629E;ENSP00000256552:K612E	ENSP00000256552:K612E	K	-	1	0	TRPM1	29121699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.890000	0.87313	1.869000	0.54173	0.533000	0.62120	AAG		0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		C	31334407	T	C	31334407	3	2	50	1	0	0	0	0	1	0	0	0	16585	1792	62	4	3091	4	TRPM1	15	31334407	Missense_Mutation	SNP	T	TCGA-09-1674-01A-01W-0633-09		31334407	71196985	96	2425											
KLF13	51621	genome.wustl.edu	37	15	31664372	31664372	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr15:31664372C>T	ENST00000307145.3	+	2	1095	c.737C>T	c.(736-738)gCg>gTg	p.A246V	KLF13_ENST00000560473.1_Missense_Mutation_p.A58V	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	246					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		ACCAAGCACGCGCGCCGCCAC	0.701																																																0			15											30	28	29					15																	31664372		2201	4296	6497	29451664	SO:0001583	missense	51621			AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.737C>T	15.37:g.31664372C>T	ENSP00000302456:p.Ala246Val		29451664	Q9Y356	Missense_Mutation	SNP	ENST00000307145.3	37	CCDS10025.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255499	0.95336	.	.	ENSG00000169926	ENST00000307145	T	0.07021	3.23	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.11750	0.0286	M	0.67397	2.05	0.58432	D	0.999996	D	0.56035	0.974	B	0.43386	0.418	T	0.15780	-1.0425	10	0.02654	T	1	.	18.3429	0.90312	0.0:1.0:0.0:0.0	.	246	Q9Y2Y9	KLF13_HUMAN	V	246	ENSP00000302456:A246V	ENSP00000302456:A246V	A	+	2	0	KLF13	29451664	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.344000	0.79328	2.406000	0.81754	0.655000	0.94253	GCG		0.701	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251381.1	NM_015995		T	31664372	C	T	31664372	3	4	50	1	0	0	0	0	1	0	0	0	8341	768	27	1	743	1	KLF13	15	31664372	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	329965	31664372	70867020	97	2426											
HEXA	3073	genome.wustl.edu	37	15	72641522	72641522	+	Missense_Mutation	SNP	T	T	C	rs199578185		TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr15:72641522T>C	ENST00000268097.5	-	8	1387	c.884A>G	c.(883-885)aAt>aGt	p.N295S	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.N306S|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.N295S|HEXA_ENST00000457859.2_Missense_Mutation_p.N103S|HEXA_ENST00000429918.2_Missense_Mutation_p.N122S	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	295			N -> S (in GM2G1; dbSNP:rs199578185). {ECO:0000269|PubMed:14566483}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATAGGTATTATTGAGACTGGG	0.458													T|||	1	0.000199681	0	0	5008	,	,		21876	0.001		0	False		,,,				2504	0															0			15											92	88	89					15																	72641522		2199	4297	6496	70428576	SO:0001583	missense	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.884A>G	15.37:g.72641522T>C	ENSP00000268097:p.Asn295Ser		70428576	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	19.33	3.806412	0.70682	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.96774	-4.12;-4.12;-4.12	5.61	5.61	0.85477	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.232274	0.43416	D	0.000570	D	0.96015	0.8702	M	0.63843	1.955	0.42493	D	0.992905	B;P;B;B;B	0.38048	0.001;0.616;0.002;0.0;0.094	B;B;B;B;B	0.44224	0.01;0.444;0.006;0.006;0.078	D	0.96010	0.9001	10	0.49607	T	0.09	-32.4345	15.8024	0.78463	0.0:0.0:0.0:1.0	.	122;306;122;175;295	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	S	295;103;122	ENSP00000268097:N295S;ENSP00000398026:N103S;ENSP00000416187:N122S	ENSP00000268097:N295S	N	-	2	0	HEXA	70428576	1.000000	0.71417	0.968000	0.41197	0.963000	0.63663	3.986000	0.56937	2.143000	0.66587	0.533000	0.62120	AAT		0.458	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		C	72641522	T	C	72641522	3	2	50	1	0	0	0	0	1	0	0	0	7073	1493	52	4	733	4	HEXA	15	72641522	Missense_Mutation	SNP	T	TCGA-09-1674-01A-01W-0633-09	40977150	72641522	29889870	98	2427											
THOC6	79228	genome.wustl.edu	37	16	3077645	3077645	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr16:3077645C>G	ENST00000326266.8	+	13	1309	c.1013C>G	c.(1012-1014)tCc>tGc	p.S338C	THOC6_ENST00000253952.9_Missense_Mutation_p.S293C|THOC6_ENST00000575576.1_Missense_Mutation_p.S314C|THOC6_ENST00000574549.1_Missense_Mutation_p.S314C	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	338					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CGAGCCTTCTCCCTGTCCTTC	0.498																																																0			16											80	78	79					16																	3077645		2198	4300	6498	3017646	SO:0001583	missense	79228			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.1013C>G	16.37:g.3077645C>G	ENSP00000326531:p.Ser338Cys		3017646	B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399113	0.62177	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.74842	-0.12;-0.88	5.26	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.68952	2.095	0.48975	D	0.999733	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.963	D	0.83665	0.0163	10	0.56958	D	0.05	-22.4974	11.5133	0.50507	0.0:0.9119:0.0:0.0881	.	293;338	Q86W42-3;Q86W42	.;THOC6_HUMAN	C	338;293	ENSP00000326531:S338C;ENSP00000253952:S293C	ENSP00000253952:S293C	S	+	2	0	THOC6	3017646	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.652000	0.74377	1.217000	0.43442	0.462000	0.41574	TCC		0.498	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		G	3077645	C	G	3077645	3	3	50	1	0	0	0	0	1	0	0	0	15869	855	30	3	1063	3	THOC6	16	3077645	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09		3077645	87277108	99	2428											
ZNF213	7760	genome.wustl.edu	37	16	3189054	3189054	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr16:3189054C>G	ENST00000396878.3	+	5	1151	c.676C>G	c.(676-678)Ctc>Gtc	p.L226V	ZNF213_ENST00000576416.1_Missense_Mutation_p.L226V|ZNF213_ENST00000574902.1_Missense_Mutation_p.L226V|ZNF213_ENST00000416391.2_Missense_Mutation_p.L68V	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	226	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						TCAGCGGGATCTCTTCTGGGA	0.607																																																0			16											70	78	76					16																	3189054		2197	4300	6497	3129055	SO:0001583	missense	7760			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.676C>G	16.37:g.3189054C>G	ENSP00000380087:p.Leu226Val		3129055	A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018746	0.75275	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.05081	3.5;3.5	4.99	4.99	0.66335	Krueppel-associated box (4);	0.000000	0.39759	N	0.001278	T	0.15782	0.0380	M	0.83483	2.645	0.39922	D	0.97416	B	0.19817	0.039	B	0.31751	0.135	T	0.02398	-1.1165	10	0.51188	T	0.08	.	16.1297	0.81418	0.0:1.0:0.0:0.0	.	226	O14771	ZN213_HUMAN	V	226;68	ENSP00000380087:L226V;ENSP00000403892:L68V	ENSP00000380087:L226V	L	+	1	0	ZNF213	3129055	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.042000	0.49815	2.472000	0.83506	0.655000	0.94253	CTC		0.607	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		G	3189054	C	G	3189054	3	3	50	1	0	0	0	0	1	0	0	0	17769	913	32	3	690	3	ZNF213	16	3189054	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	111409	3189054	87165699	100	2429											
ALG1	56052	genome.wustl.edu	37	16	5125431	5125431	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr16:5125431G>A	ENST00000262374.5	+	4	464	c.433G>A	c.(433-435)Ggc>Agc	p.G145S	ALG1_ENST00000588623.1_Missense_Mutation_p.G34S|ALG1_ENST00000544428.1_Missense_Mutation_p.G34S	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	145					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CTGGTTCGTGGGCTGCCTTTG	0.552																																																0			16											197	168	177					16																	5125431		2197	4300	6497	5065432	SO:0001583	missense	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.433G>A	16.37:g.5125431G>A	ENSP00000262374:p.Gly145Ser		5065432	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984193	0.35036	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	T;T	0.80824	-1.42;-1.42	5.74	-0.493	0.12038	.	0.344487	0.38326	N	0.001723	T	0.49406	0.1555	N	0.02539	-0.55	0.22389	N	0.999147	B;B	0.14012	0.009;0.007	B;B	0.15052	0.012;0.008	T	0.44967	-0.9293	10	0.07030	T	0.85	-3.1769	9.2768	0.37705	0.0813:0.0:0.2401:0.6786	.	34;145	B4DP08;Q9BT22	.;ALG1_HUMAN	S	145;34	ENSP00000262374:G145S;ENSP00000440019:G34S	ENSP00000262374:G145S	G	+	1	0	ALG1	5065432	1.000000	0.71417	0.148000	0.22405	0.923000	0.55619	0.863000	0.27913	0.020000	0.15106	0.650000	0.86243	GGC		0.552	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		A	5125431	G	A	5125431	3	1	50	1	0	0	0	0	1	0	0	0	510	1232	43	2	447	2	ALG1	16	5125431	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	1936377	5125431	85229322	101	2430											
PALB2	79728	genome.wustl.edu	37	16	23646369	23646369	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr16:23646369A>G	ENST00000261584.4	-	4	1650	c.1498T>C	c.(1498-1500)Tct>Cct	p.S500P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	500	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GCCTTCCTAGACAAGTCATTA	0.473			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0			16											146	143	144					16																	23646369		2197	4300	6497	23553870	SO:0001583	missense	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1498T>C	16.37:g.23646369A>G	ENSP00000261584:p.Ser500Pro		23553870	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999103	0.74818	.	.	ENSG00000083093	ENST00000261584	T	0.18338	2.22	5.2	-3.37	0.04898	.	0.782893	0.11510	N	0.556845	T	0.12220	0.0297	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.33803	-0.9854	10	0.30078	T	0.28	-0.048	2.1456	0.03786	0.2392:0.4287:0.1878:0.1444	.	500	Q86YC2	PALB2_HUMAN	P	500	ENSP00000261584:S500P	ENSP00000261584:S500P	S	-	1	0	PALB2	23553870	0.000000	0.05858	0.000000	0.03702	0.606000	0.37113	-0.024000	0.12435	-0.475000	0.06852	-0.313000	0.08912	TCT		0.473	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		G	23646369	A	G	23646369	3	3	50	1	0	0	0	0	1	0	0	0	11406	275	10	4	2102	4	PALB2	16	23646369	Missense_Mutation	SNP	A	TCGA-09-1674-01A-01W-0633-09	18520938	23646369	66708384	102	2431											
EDC4	23644	genome.wustl.edu	37	16	67915978	67915978	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr16:67915978C>A	ENST00000358933.5	+	23	3365	c.3126C>A	c.(3124-3126)agC>agA	p.S1042R	NRN1L_ENST00000339176.3_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1042					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TAGAGCGCAGCATACGGGATG	0.582																																																0			16											40	40	40					16																	67915978		2198	4300	6498	66473479	SO:0001583	missense	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3126C>A	16.37:g.67915978C>A	ENSP00000351811:p.Ser1042Arg		66473479	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813090	0.32053	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.81	1.25	0.21368	.	0.204937	0.52532	D	0.000065	T	0.13586	0.0329	N	0.08118	0	0.19575	N	0.999964	B	0.16166	0.016	B	0.12837	0.008	T	0.17868	-1.0355	9	0.15499	T	0.54	-14.0675	4.1862	0.10398	0.1026:0.5422:0.1485:0.2067	.	1042	Q6P2E9	EDC4_HUMAN	R	1042	.	ENSP00000351811:S1042R	S	+	3	2	EDC4	66473479	0.065000	0.20965	1.000000	0.80357	0.984000	0.73092	0.329000	0.19698	0.817000	0.34445	0.558000	0.71614	AGC		0.582	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		A	67915978	C	A	67915978	3	1	50	1	0	0	0	0	1	0	0	0	4908	709	25	3	3216	3	EDC4	16	67915978	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	44269609	67915978	22438775	103	2432											
SGSM2	9905	genome.wustl.edu	37	17	2264975	2264975	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr17:2264975G>T	ENST00000426855.2	+	3	353	c.178G>T	c.(178-180)Gct>Tct	p.A60S	SGSM2_ENST00000574563.1_Missense_Mutation_p.A60S|SGSM2_ENST00000268989.3_Missense_Mutation_p.A60S	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	60	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACGCCGTGCCGCTGGCTTCCT	0.612																																																0			17											64	55	58					17																	2264975		2203	4300	6503	2211725	SO:0001583	missense	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.178G>T	17.37:g.2264975G>T	ENSP00000415107:p.Ala60Ser		2211725	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846507	0.91277	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.32272	1.46;1.46	5.49	5.49	0.81192	RUN (2);	0.047664	0.85682	D	0.000000	T	0.49064	0.1535	L	0.60455	1.87	0.80722	D	1	P;D;P	0.55172	0.849;0.97;0.946	B;P;B	0.58820	0.442;0.846;0.441	T	0.31223	-0.9951	10	0.37606	T	0.19	-3.0541	18.3451	0.90319	0.0:0.0:1.0:0.0	.	60;60;60	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	S	60	ENSP00000268989:A60S;ENSP00000415107:A60S	ENSP00000268989:A60S	A	+	1	0	SGSM2	2211725	1.000000	0.71417	0.970000	0.41538	0.951000	0.60555	9.869000	0.99810	2.582000	0.87167	0.462000	0.41574	GCT		0.612	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		T	2264975	G	T	2264975	3	4	50	1	0	0	0	0	1	0	0	0	14226	1087	38	3	188	3	SGSM2	17	2264975	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09		2264975	78930235	104	2433											
TP53	7157	genome.wustl.edu	37	17	7578287	7578288	+	Frame_Shift_Ins	INS	-	-	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr17:7578287_7578288insT	ENST00000269305.4	-	6	750_751	c.561_562insA	c.(559-564)ggtctgfs	p.L188fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.L188fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L188fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L188fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.L188fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L188fs|TP53_ENST00000574684.1_Intron	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	188	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> P (in a sporadic cancer; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G187fs*16(2)|p.L188fs*21(2)|p.L188V(1)|p.D186_P191delDGLAPP(1)|p.?(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.?fs(1)|p.G187fs*64(1)|p.G187G(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)	GGAGGGGCCAGACCTAAGAGCA	0.545		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"	20	Whole gene deletion(8)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Deletion - In frame(2)|Complex - frameshift(1)|Unknown(1)|Substitution - Missense(1)|Substitution - coding silent(1)	bone(4)|large_intestine(3)|central_nervous_system(2)|lung(2)|liver(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|oesophagus(1)|ovary(1)|breast(1)	17																																								7519013	SO:0001589	frameshift_variant	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.561_562insA	17.37:g.7578287_7578288insT	ENSP00000269305:p.Leu188fs		7519012	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578288	-	T	7578287	7	5	50	1	0	1	1	0	0	0	0	0	16381	933	33	0	732	0	TP53	17	7578287	Frame_Shift_Ins	INS	-	TCGA-09-1674-01A-01W-0633-09	5313312	7578287	73616923	105	2434											
RUNDC1	146923	genome.wustl.edu	37	17	41143301	41143301	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr17:41143301G>A	ENST00000361677.1	+	5	1422	c.1410G>A	c.(1408-1410)atG>atA	p.M470I		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	470	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CAGAGGCCATGCACCCGTGGG	0.582																																																0			17											61	60	60					17																	41143301		2203	4300	6503	38396827	SO:0001583	missense	146923			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1410G>A	17.37:g.41143301G>A	ENSP00000354622:p.Met470Ile		38396827	Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457532	0.43634	.	.	ENSG00000198863	ENST00000361677	T	0.19250	2.16	4.92	4.92	0.64577	RUN (2);	0.087810	0.85682	D	0.000000	T	0.17959	0.0431	L	0.28115	0.83	0.54753	D	0.999983	B	0.29232	0.238	B	0.29267	0.1	T	0.04427	-1.0952	10	0.33141	T	0.24	-35.5706	18.3135	0.90208	0.0:0.0:1.0:0.0	.	470	Q96C34	RUND1_HUMAN	I	470	ENSP00000354622:M470I	ENSP00000354622:M470I	M	+	3	0	RUNDC1	38396827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.289000	0.65656	2.551000	0.86045	0.655000	0.94253	ATG		0.582	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		A	41143301	G	A	41143301	3	1	50	1	0	0	0	0	1	0	0	0	13745	1319	46	2	1428	2	RUNDC1	17	41143301	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	33565014	41143301	40051909	106	2435											
NFE2L1	4779	genome.wustl.edu	37	17	46136559	46136559	+	Silent	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr17:46136559C>T	ENST00000362042.3	+	6	2491	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	NFE2L1_ENST00000536222.1_Silent_p.F469F|NFE2L1_ENST00000582155.1_Silent_p.F437F|NFE2L1_ENST00000361665.3_Silent_p.F614F|NFE2L1_ENST00000583378.1_Silent_p.F426F|NFE2L1_ENST00000357480.5_Silent_p.F595F|NFE2L1_ENST00000585291.1_Silent_p.F595F|RP5-890E16.4_ENST00000583349.1_RNA	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	625					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATCCCTTTCACCAATGACA	0.537																																																0			17											51	44	46					17																	46136559		2203	4300	6503	43491558	SO:0001819	synonymous_variant	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1875C>T	17.37:g.46136559C>T			43491558	D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	CCDS11524.1																																																																																				0.537	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		T	46136559	C	T	46136559	2	4	50	1	0	0	0	0	0	0	0	1	10367	825	29	2		2	NFE2L1	17	46136559	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09	4993258	46136559	35058651	107	2436											
ERN1	2081	genome.wustl.edu	37	17	62122769	62122769	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr17:62122769G>T	ENST00000433197.3	-	20	2698	c.2603C>A	c.(2602-2604)gCc>gAc	p.A868D		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTTCACCACGGCTCTCCCGCC	0.572																																																0			17											70	76	74					17																	62122769		2047	4192	6239	59476501	SO:0001583	missense	2081			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2603C>A	17.37:g.62122769G>T	ENSP00000401445:p.Ala868Asp		59476501		Missense_Mutation	SNP	ENST00000433197.3	37	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134490	0.37630	.	.	ENSG00000178607	ENST00000433197	T	0.30182	1.54	5.29	4.25	0.50352	KEN domain, ribonuclease activator (2);	0.267712	0.36555	N	0.002539	T	0.19886	0.0478	N	0.21097	0.63	0.40895	D	0.984107	B	0.15473	0.013	B	0.11329	0.006	T	0.05435	-1.0885	10	0.12103	T	0.63	-13.476	14.4916	0.67654	0.0:0.0:0.7801:0.2199	.	868	O75460	ERN1_HUMAN	D	868	ENSP00000401445:A868D	ENSP00000401445:A868D	A	-	2	0	ERN1	59476501	0.982000	0.34865	0.952000	0.39060	0.805000	0.45488	2.465000	0.45075	2.642000	0.89623	0.561000	0.74099	GCC		0.572	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		T	62122769	G	T	62122769	3	4	50	1	0	0	0	0	1	0	0	0	5237	1203	42	3	342	3	ERN1	17	62122769	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	15986210	62122769	19072441	108	2437											
CARD14	79092	genome.wustl.edu	37	17	78169374	78169374	+	Missense_Mutation	SNP	C	C	T	rs61751630	byFrequency	TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr17:78169374C>T	ENST00000573882.1	+	13	2053	c.1517C>T	c.(1516-1518)cCg>cTg	p.P506L	CARD14_ENST00000344227.2_Missense_Mutation_p.P506L|CARD14_ENST00000570421.1_Missense_Mutation_p.P506L|CARD14_ENST00000392434.2_Missense_Mutation_p.P269L|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	506					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGAGATCCCGGAGGGAGAC	0.642													C|||	78	0.0155751	8e-04	0.0043	5008	,	,		16802	0.001		0.0139	False		,,,				2504	0.0603															0			17						C	LEU/PRO,LEU/PRO	15,4391		0,15,2188	23	24	24		1517,806	1.4	0	17	dbSNP_129	24	145,8453		1,143,4155	yes	missense,missense	CARD14	NM_024110.3,NM_052819.2	98,98	1,158,6343	TT,TC,CC		1.6864,0.3404,1.2304	benign,benign	506/1005,269/435	78169374	160,12844	2203	4299	6502	75783969	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1517C>T	17.37:g.78169374C>T	ENSP00000458715:p.Pro506Leu		75783969	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	CCDS11768.1	11	0.005036630036630037	0	0.0	1	0.0027624309392265192	0	0.0	10	0.013192612137203167	C	7.121	0.577985	0.13686	0.003404	0.016864	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.24723	1.84;2.54	3.67	1.4	0.22301	.	1.619920	0.03323	N	0.192299	T	0.04588	0.0125	N	0.00972	-1.085	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.18493	-1.0335	10	0.49607	T	0.09	-6.1674	5.4736	0.16684	0.0:0.2412:0.0:0.7588	rs61751630	506;269;506	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	L	506;269;269	ENSP00000344549:P506L;ENSP00000376229:P269L	ENSP00000308507:P269L	P	+	2	0	CARD14	75783969	0.006000	0.16342	0.017000	0.16124	0.001000	0.01503	-0.079000	0.11357	0.143000	0.18926	-1.267000	0.01435	CCG		0.642	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			T	78169374	C	T	78169374	3	4	50	1	0	0	0	0	1	0	0	0	2646	652	23	1	1555	1	CARD14	17	78169374	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	16046605	78169374	3025836	109	2438											
CSNK1D	1453	genome.wustl.edu	37	17	80213347	80213347	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr17:80213347C>A	ENST00000314028.6	-	3	643	c.294G>T	c.(292-294)agG>agT	p.R98S	CSNK1D_ENST00000398519.5_Missense_Mutation_p.R98S|AC132872.2_ENST00000598222.1_5'Flank|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000392334.2_Missense_Mutation_p.R98S	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GGCTGAATTTCCTGGAGCAGA	0.547																																																0			17											153	125	135					17																	80213347		2203	4300	6503	77806636	SO:0001583	missense	1453				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.294G>T	17.37:g.80213347C>A	ENSP00000324464:p.Arg98Ser		77806636	A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931536	0.73442	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000403276	T;T;T	0.64991	-0.13;-0.13;-0.13	5.63	-0.58	0.11717	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.92317	3.295	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.937;0.989;1.0	T	0.78041	-0.2359	10	0.87932	D	0	.	7.834	0.29360	0.0:0.6003:0.112:0.2877	.	98;98;41	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	S	98;98;41;98	ENSP00000324464:R98S;ENSP00000376146:R98S;ENSP00000385769:R98S	ENSP00000324464:R98S	R	-	3	2	CSNK1D	77806636	0.006000	0.16342	0.981000	0.43875	0.973000	0.67179	-1.011000	0.03652	0.044000	0.15775	-0.142000	0.14014	AGG		0.547	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		A	80213347	C	A	80213347	3	1	50	1	0	0	0	0	1	0	0	0	3952	854	30	3	1018	3	CSNK1D	17	80213347	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	2043973	80213347	981863	110	2439											
ZNF44	51710	genome.wustl.edu	37	19	12384464	12384464	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr19:12384464A>C	ENST00000356109.5	-	5	868	c.750T>G	c.(748-750)tgT>tgG	p.C250W	ZNF44_ENST00000355684.5_Missense_Mutation_p.C202W	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AGGCTTTCCCACACAATTCAC	0.398																																																0			19											89	94	92					19																	12384464		2203	4300	6503	12245464	SO:0001583	missense	51710			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.750T>G	19.37:g.12384464A>C	ENSP00000348419:p.Cys250Trp		12245464	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.288711	0.59976	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.39997	1.05;1.05;1.05	1.01	-0.0591	0.13794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75287	0.3829	H	0.99842	4.835	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71603	-0.4543	8	0.87932	D	0	.	4.0005	0.09577	0.7662:0.0:0.2338:0.0	.	250;202	P15621;F8W7T7	ZNF44_HUMAN;.	W	250;250;202;202	ENSP00000377008:C250W;ENSP00000348419:C250W;ENSP00000347910:C202W	ENSP00000347910:C202W	C	-	3	2	ZNF44	12245464	0.800000	0.28916	0.003000	0.11579	0.898000	0.52572	1.330000	0.33781	-0.061000	0.13110	0.260000	0.18958	TGT		0.398	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		C	12384464	A	C	12384464	3	2	50	1	0	0	0	0	1	0	0	0	17912	157	6	5	1245	5	ZNF44	19	12384464	Missense_Mutation	SNP	A	TCGA-09-1674-01A-01W-0633-09		12384464	46744519	111	2440											
PRX	57716	genome.wustl.edu	37	19	40902375	40902375	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr19:40902375C>A	ENST00000324001.7	-	7	2154	c.1884G>T	c.(1882-1884)gaG>gaT	p.E628D	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	628	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCTTCATCTCTGGGACTT	0.582																																																0			19											95	107	103					19																	40902375		2202	4300	6502	45594215	SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1884G>T	19.37:g.40902375C>A	ENSP00000326018:p.Glu628Asp		45594215	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804417	0.31869	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01804	4.63	4.08	0.261	0.15592	.	0.373056	0.19253	N	0.118868	T	0.01940	0.0061	M	0.62723	1.935	0.80722	D	1	B	0.17667	0.023	B	0.16289	0.015	T	0.45483	-0.9258	10	0.12103	T	0.63	.	5.5661	0.17170	0.0:0.6264:0.1607:0.2129	.	628	Q9BXM0	PRAX_HUMAN	D	628	ENSP00000326018:E628D	ENSP00000326018:E628D	E	-	3	2	PRX	45594215	0.000000	0.05858	0.943000	0.38184	0.857000	0.48899	-1.636000	0.02016	0.325000	0.23359	-0.145000	0.13849	GAG		0.582	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		A	40902375	C	A	40902375	3	1	50	1	0	0	0	0	1	0	0	0	12645	912	32	3	2505	3	PRX	19	40902375	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	28517911	40902375	18226608	112	2441											
EGLN2	112398	genome.wustl.edu	37	19	41313085	41313085	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr19:41313085G>A	ENST00000593726.1	+	3	2034	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000594140.1_Missense_Mutation_p.V54M|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000406058.2_Missense_Mutation_p.V336M|EGLN2_ENST00000303961.4_Missense_Mutation_p.V336M			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	336	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GGGCCGGCCCGTGGTAGCCAA	0.637											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											60	60	60					19																	41313085		2203	4300	6503	46004925	SO:0001583	missense	112398			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.1006G>A	19.37:g.41313085G>A	ENSP00000469686:p.Val336Met	900	46004925	A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670498	0.67814	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.60424	0.19;0.19	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.73372	2.23	0.53688	D	0.999977	D	0.67145	0.996	D	0.64877	0.93	T	0.70586	-0.4831	10	0.32370	T	0.25	-14.0045	17.456	0.87607	0.0:0.0:1.0:0.0	.	336	Q96KS0	EGLN2_HUMAN	M	336	ENSP00000307080:V336M;ENSP00000385253:V336M	ENSP00000307080:V336M	V	+	1	0	EGLN2	46004925	0.991000	0.36638	0.976000	0.42696	0.964000	0.63967	2.009000	0.40903	2.644000	0.89710	0.655000	0.94253	GTG		0.637	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			A	41313085	G	A	41313085	3	1	50	1	0	0	0	0	1	0	0	0	4969	1145	40	1	1016	1	EGLN2	19	41313085	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09	410710	41313085	17815898	113	2442											
PLEKHA4	57664	genome.wustl.edu	37	19	49362849	49362849	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr19:49362849C>T	ENST00000263265.6	-	7	1124	c.569G>A	c.(568-570)cGc>cAc	p.R190H	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R190H	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	190	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TTCTGAGATGCGCCCCTCTTC	0.682																																																0			19											61	48	53					19																	49362849		2203	4300	6503	54054661	SO:0001583	missense	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.569G>A	19.37:g.49362849C>T	ENSP00000263265:p.Arg190His		54054661	Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319046	0.41096	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.14893	3.0;2.47	4.7	0.827	0.18835	.	0.427985	0.20686	N	0.087544	T	0.07908	0.0198	N	0.14661	0.345	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.11329	0.006;0.004	T	0.24119	-1.0169	10	0.42905	T	0.14	.	3.7214	0.08457	0.0:0.5256:0.193:0.2814	.	190;190	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	H	190	ENSP00000263265:R190H;ENSP00000347683:R190H	ENSP00000263265:R190H	R	-	2	0	PLEKHA4	54054661	0.001000	0.12720	0.001000	0.08648	0.782000	0.44232	-0.011000	0.12721	0.131000	0.18576	0.462000	0.41574	CGC		0.682	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			T	49362849	C	T	49362849	3	4	50	1	0	0	0	0	1	0	0	0	12058	768	27	1	1826	1	PLEKHA4	19	49362849	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	8049764	49362849	9766134	114	2443											
ZNF83	55769	genome.wustl.edu	37	19	53117621	53117621	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr19:53117621T>C	ENST00000597597.1	-	2	2450	c.197A>G	c.(196-198)cAc>cGc	p.H66R	ZNF83_ENST00000536937.1_Missense_Mutation_p.H66R|ZNF83_ENST00000301096.3_Missense_Mutation_p.H66R|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.H66R|ZNF83_ENST00000544146.1_Missense_Mutation_p.H66R|ZNF83_ENST00000391789.4_Missense_Mutation_p.H66R|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000541777.2_Missense_Mutation_p.H66R			P51522	ZNF83_HUMAN	zinc finger protein 83	66					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ATGAGAAATGTGGGTTTTGAC	0.358																																																0			19											77	80	79					19																	53117621		2203	4300	6503	57809433	SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.197A>G	19.37:g.53117621T>C	ENSP00000472619:p.His66Arg		57809433	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	t	5.109	0.205797	0.09704	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.08370	3.12;3.12;3.12;3.12;3.12;3.1	2.28	1.22	0.21188	.	.	.	.	.	T	0.11410	0.0278	L	0.58354	1.805	0.09310	N	1	B;D	0.59357	0.001;0.985	B;P	0.47206	0.002;0.541	T	0.18650	-1.0330	9	0.87932	D	0	.	5.3957	0.16268	0.0:0.1581:0.0:0.8419	.	66;66	P51522-2;P51522	.;ZNF83_HUMAN	R	66	ENSP00000445993:H66R;ENSP00000301096:H66R;ENSP00000445470:H66R;ENSP00000440713:H66R;ENSP00000439681:H66R;ENSP00000375666:H66R	ENSP00000301096:H66R	H	-	2	0	ZNF83	57809433	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.894000	0.28350	0.136000	0.18733	-0.353000	0.07706	CAC		0.358	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		C	53117621	T	C	53117621	3	2	50	1	0	0	0	0	1	0	0	0	18183	1696	59	4	1357	4	ZNF83	19	53117621	Missense_Mutation	SNP	T	TCGA-09-1674-01A-01W-0633-09	3754772	53117621	6011362	115	2444											
ZNF551	90233	genome.wustl.edu	37	19	58197899	58197899	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr19:58197899T>C	ENST00000282296.5	+	3	441	c.256T>C	c.(256-258)Tct>Cct	p.S86P	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.S70P			Q7Z340	ZN551_HUMAN	zinc finger protein 551	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCAGAGTGTATCTATACAGGT	0.448																																																0			19											107	101	103					19																	58197899		2203	4300	6503	62889711	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.256T>C	19.37:g.58197899T>C	ENSP00000282296:p.Ser86Pro		62889711	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	T	7.854	0.724581	0.15439	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.08	2.08	0.27032	Krueppel-associated box (2);	.	.	.	.	T	0.30417	0.0764	L	0.33485	1.01	0.09310	N	1	B	0.31859	0.343	B	0.33620	0.167	T	0.21930	-1.0231	8	0.49607	T	0.09	.	6.1547	0.20330	0.0:0.0:0.0:1.0	.	86	Q7Z340	ZN551_HUMAN	P	86;70	.	ENSP00000282296:S70P	S	+	1	0	ZNF551	62889711	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.043000	0.13971	1.208000	0.43306	0.454000	0.30748	TCT		0.448	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		C	58197899	T	C	58197899	3	2	50	1	0	0	0	0	1	0	0	0	17983	1435	50	4	218	4	ZNF551	19	58197899	Missense_Mutation	SNP	T	TCGA-09-1674-01A-01W-0633-09	5080278	58197899	931084	116	2445											
NINL	22981	genome.wustl.edu	37	20	25459747	25459747	+	Silent	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr20:25459747C>T	ENST00000278886.6	-	16	2086	c.2013G>A	c.(2011-2013)gtG>gtA	p.V671V	NINL_ENST00000422516.1_Silent_p.V671V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	671					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GACCCTCCAGCACGCTGACCT	0.592																																																0			20											68	66	67					20																	25459747		2203	4300	6503	25407747	SO:0001819	synonymous_variant	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2013G>A	20.37:g.25459747C>T			25407747	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	CCDS33452.1																																																																																				0.592	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		T	25459747	C	T	25459747	2	4	50	1	0	0	0	0	0	0	0	1	10420	697	25	2		2	NINL	20	25459747	Silent	SNP	C	TCGA-09-1674-01A-01W-0633-09		25459747	37565773	117	2446											
PHACTR3	116154	genome.wustl.edu	37	20	58381107	58381107	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr20:58381107C>T	ENST00000371015.1	+	8	1653	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	PHACTR3_ENST00000541461.1_Missense_Mutation_p.R355W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R355W|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R355W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R285W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R285W|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R393W	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	396						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AACACTGCCACGGAAATGCAA	0.547																																																0			20											193	208	203					20																	58381107		2203	4300	6503	57814502	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1186C>T	20.37:g.58381107C>T	ENSP00000360054:p.Arg396Trp		57814502	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024513	0.35701	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.34072	1.74;1.75;1.38;1.76;1.76;1.76;1.38	5.07	2.77	0.32553	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.982;0.982	T	0.58233	-0.7672	10	0.87932	D	0	-25.6526	11.567	0.50811	0.5299:0.4701:0.0:0.0	.	285;396;393	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	W	393;396;285;355;355;355;285	ENSP00000353002:R393W;ENSP00000360054:R396W;ENSP00000379001:R285W;ENSP00000442483:R355W;ENSP00000347866:R355W;ENSP00000378998:R355W;ENSP00000354555:R285W	ENSP00000347866:R355W	R	+	1	2	PHACTR3	57814502	0.954000	0.32549	0.573000	0.28510	0.168000	0.22595	2.287000	0.43505	0.259000	0.21709	-0.271000	0.10264	CGG		0.547	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		T	58381107	C	T	58381107	3	4	50	1	0	0	0	0	1	0	0	0	11811	527	19	1	1216	1	PHACTR3	20	58381107	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	32921360	58381107	4644413	118	2447											
SH3BGR	6450	genome.wustl.edu	37	21	40883698	40883698	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr21:40883698C>T	ENST00000333634.4	+	6	794	c.716C>T	c.(715-717)tCc>tTc	p.S239F	SH3BGR_ENST00000458295.1_Missense_Mutation_p.S97F|SH3BGR_ENST00000380637.3_Missense_Mutation_p.S128F|SH3BGR_ENST00000380631.1_Missense_Mutation_p.S128F|SH3BGR_ENST00000380634.1_Missense_Mutation_p.S128F	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	239	Glu-rich (acidic).				positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GACGAAGATTCCTAGGCCTTT	0.493																																																0			21											99	88	92					21																	40883698		2203	4300	6503	39805568	SO:0001583	missense	6450				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.716C>T	21.37:g.40883698C>T	ENSP00000332513:p.Ser239Phe		39805568	A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	.	6.674	0.492932	0.12702	.	.	ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000458295;ENST00000380631;ENST00000333634;ENST00000423596	T;T;T;T;T	0.55052	0.86;0.86;0.86;1.6;0.54	3.47	3.47	0.39725	.	0.519756	0.15941	U	0.237184	T	0.55689	0.1936	N	0.19112	0.55	0.25777	N	0.98478	D	0.71674	0.998	D	0.77557	0.99	T	0.46162	-0.9211	10	0.87932	D	0	.	10.6918	0.45875	0.0:1.0:0.0:0.0	.	239	P55822	SH3BG_HUMAN	F	128;128;97;128;239;81	ENSP00000370011:S128F;ENSP00000370008:S128F;ENSP00000370005:S128F;ENSP00000332513:S239F;ENSP00000413981:S81F	ENSP00000332513:S239F	S	+	2	0	SH3BGR	39805568	0.459000	0.25768	0.964000	0.40570	0.345000	0.29048	2.719000	0.47244	1.948000	0.56530	0.567000	0.79289	TCC		0.493	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		T	40883698	C	T	40883698	3	4	50	1	0	0	0	0	1	0	0	0	14243	855	30	2	738	2	SH3BGR	21	40883698	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09		40883698	7246197	119	2448											
FBXO7	25793	genome.wustl.edu	37	22	32875251	32875251	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr22:32875251G>T	ENST00000266087.7	+	2	733	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	FBXO7_ENST00000382058.3_Missense_Mutation_p.D57Y|FBXO7_ENST00000397426.1_Missense_Mutation_p.D22Y	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	136	Important for interaction with CDK6.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTTTGGAATGACGACAGTAT	0.433																																																0			22											56	56	56					22																	32875251		2203	4300	6503	31205251	SO:0001583	missense	25793			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.406G>T	22.37:g.32875251G>T	ENSP00000266087:p.Asp136Tyr		31205251	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730148	0.30684	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.36	4.34	0.51931	.	0.530473	0.18536	N	0.138342	T	0.58878	0.2153	M	0.72118	2.19	0.09310	N	1	P;P;P	0.50943	0.94;0.832;0.836	P;B;B	0.51355	0.667;0.252;0.444	T	0.55244	-0.8171	10	0.66056	D	0.02	-8.8381	7.0748	0.25199	0.2409:0.0:0.7591:0.0	.	57;136;22	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	Y	136;57;57;22;22	ENSP00000266087:D136Y;ENSP00000388547:D57Y;ENSP00000371490:D57Y;ENSP00000380571:D22Y;ENSP00000404388:D22Y	ENSP00000266087:D136Y	D	+	1	0	FBXO7	31205251	0.266000	0.24112	0.018000	0.16275	0.347000	0.29111	3.249000	0.51437	1.250000	0.43966	0.484000	0.47621	GAC		0.433	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			T	32875251	G	T	32875251	3	4	50	1	0	0	0	0	1	0	0	0	5760	1290	45	3	453	3	FBXO7	22	32875251	Missense_Mutation	SNP	G	TCGA-09-1674-01A-01W-0633-09		32875251	18429315	120	2449											
ARHGAP8	23779	genome.wustl.edu	37	22	45210590	45210590	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chr22:45210590C>T	ENST00000389774.2	+	6	572	c.431C>T	c.(430-432)cCc>cTc	p.P144L	PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.P244L|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.P113L|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.P323L|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.P235L|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.P323L|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.P113L	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	144	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GTGGTGCACCCCACCAGCTTC	0.587																																																0			22											141	114	123					22																	45210590		2203	4300	6503	43589254	SO:0001583	missense	553158			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.431C>T	22.37:g.45210590C>T	ENSP00000374424:p.Pro144Leu		43589254	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836764|4.836764	0.91117|0.91117	.|.	.|.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484|ENSG00000248405	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099;ENST00000412433|ENST00000515632	T;T;T;T;T;T;T;T|T	0.68903|0.66460	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36|-0.21	4.25|4.25	4.25|4.25	0.50352|0.50352	Cellular retinaldehyde-binding/triple function, C-terminal (5);|.	.|.	.|.	.|.	.|.	T|T	0.80964|0.80964	0.4725|0.4725	M|M	0.82193|0.82193	2.58|2.58	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;0.999;0.957;1.0;0.999;1.0;0.999|.	D;D;P;D;D;D;D|.	0.91635|.	0.967;0.967;0.64;0.999;0.967;0.999;0.98|.	D|D	0.84160|0.84160	0.0428|0.0428	9|7	0.87932|0.56958	D|D	0|0.05	.|.	16.477|16.477	0.84135|0.84135	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	149;113;149;144;154;323;244|.	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3|.	.;.;.;RHG08_HUMAN;.;.;.|.	L|S	244;323;323;235;144;113;113;113|167	ENSP00000354732:P244L;ENSP00000262731:P323L;ENSP00000429240:P323L;ENSP00000374423:P235L;ENSP00000374424:P144L;ENSP00000337287:P113L;ENSP00000348407:P113L;ENSP00000402775:P113L|ENSP00000425026:P167S	ENSP00000337287:P113L|ENSP00000425026:P167S	P|P	+|+	2|1	0|0	PRR5-ARHGAP8;ARHGAP8|PRR5-ARHGAP8	43589254|43589254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	6.980000|6.980000	0.76160|0.76160	2.194000|2.194000	0.70268|0.70268	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.587	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		T	45210590	C	T	45210590	3	4	50	1	0	0	0	0	1	0	0	0	888	623	22	2	449	2	ARHGAP8	22	45210590	Missense_Mutation	SNP	C	TCGA-09-1674-01A-01W-0633-09	12335339	45210590	6093976	121	2450											
COL4A5	1287	genome.wustl.edu	37	X	107923911	107923911	+	Silent	SNP	T	T	G			TCGA-09-1674-01A-01W-0633-09	TCGA-09-1674-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d45bb919-f2fd-4ac0-ae04-fac8e2105a31	05712782-d79d-460a-9809-dded595d46fe	g.chrX:107923911T>G	ENST00000361603.2	+	43	4171	c.3927T>G	c.(3925-3927)ggT>ggG	p.G1309G	COL4A5_ENST00000328300.6_Silent_p.G1315G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1309	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTATTCAGGGTAATCCTGGCC	0.428									Alport syndrome with Diffuse Leiomyomatosis																																							0			X											86	78	81					X																	107923911		2203	4300	6503	107810567	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3927T>G	X.37:g.107923911T>G			107810567	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1																																																																																				0.428	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			G	107923911	T	G	107923911	2	3	50	1	0	0	0	0	0	0	0	1	3694	1625	57	5		5	COL4A5	23	107923911	Silent	SNP	T	TCGA-09-1674-01A-01W-0633-09		107923911	47346649	122	2451											
CAMTA1	23261	genome.wustl.edu	37	1	7151369	7151369	+	Silent	SNP	T	T	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:7151369T>C	ENST00000303635.7	+	4	447	c.240T>C	c.(238-240)atT>atC	p.I80I	CAMTA1_ENST00000439411.2_Silent_p.I80I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCAGGAAATTGCAGCTTATT	0.373			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1											102	97	99					1																	7151369		2203	4300	6503	7073956	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.240T>C	1.37:g.7151369T>C			7073956	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1																																																																																				0.373	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		C	7151369	T	C	7151369	2	2	51	1	0	0	0	0	0	0	0	1	2613	1800	63	4		4	CAMTA1	1	7151369	Silent	SNP	T	TCGA-09-1675-01B-01W-0633-09		7151369	242099252	1	2452											
TAS1R2	80834	genome.wustl.edu	37	1	19181469	19181469	+	Silent	SNP	G	G	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:19181469G>A	ENST00000375371.3	-	3	516	c.495C>T	c.(493-495)agC>agT	p.S165S	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	165					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGCTGATGGCGCTGTAGGTGA	0.637																																																0			1											40	40	40					1																	19181469		2198	4297	6495	19054056	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.495C>T	1.37:g.19181469G>A			19054056	Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																				0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			A	19181469	G	A	19181469	2	1	51	1	0	0	0	0	0	0	0	1	15563	1078	38	1		1	TAS1R2	1	19181469	Silent	SNP	G	TCGA-09-1675-01B-01W-0633-09	12030100	19181469	230069152	2	2453											
EPHA10	284656	genome.wustl.edu	37	1	38227466	38227466	+	Missense_Mutation	SNP	G	G	T	rs370728811		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:38227466G>T	ENST00000373048.4	-	3	460	c.461C>A	c.(460-462)aCg>aAg	p.T154K	EPHA10_ENST00000319637.6_Missense_Mutation_p.T154K|EPHA10_ENST00000427468.2_Missense_Mutation_p.T154K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	154	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGCCGCGATCGTGTCGATTTT	0.662																																																0			1											28	34	32					1																	38227466		2197	4298	6495	38000053	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.461C>A	1.37:g.38227466G>T	ENSP00000362139:p.Thr154Lys		38000053	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041798	0.93685	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.05382	3.45;3.45;3.45	4.75	4.75	0.60458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.42964	D	0.000631	T	0.32763	0.0840	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.32561	-0.9902	10	0.87932	D	0	.	17.2504	0.87041	0.0:0.0:1.0:0.0	.	154;154	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	K	154	ENSP00000397746:T154K;ENSP00000362139:T154K;ENSP00000316395:T154K	ENSP00000316395:T154K	T	-	2	0	EPHA10	38000053	1.000000	0.71417	0.972000	0.41901	0.941000	0.58515	9.511000	0.98006	2.598000	0.87819	0.643000	0.83706	ACG		0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38227466	G	T	38227466	3	4	51	1	0	0	0	0	1	0	0	0	5166	1145	40	3	2663	3	EPHA10	1	38227466	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	19045997	38227466	211023155	3	2454											
PODN	127435	genome.wustl.edu	37	1	53546529	53546543	+	In_Frame_Del	DEL	CTCAAGGGGATCTTT	CTCAAGGGGATCTTT	-	rs147003164		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	CTCAAGGGGATCTTT	CTCAAGGGGATCTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:53546529_53546543delCTCAAGGGGATCTTT	ENST00000312553.5	+	9	1793_1807	c.1786_1800delCTCAAGGGGATCTTT	c.(1786-1800)ctcaaggggatctttdel	p.LKGIF596del	PODN_ENST00000395871.2_In_Frame_Del_p.LKGIF454del|PODN_ENST00000371500.3_In_Frame_Del_p.LKGIF577del|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	548					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACGCCCAACCTCAAGGGGATCTTTCTCAGGTAGG	0.614																																																0			1																																								53319131	SO:0001651	inframe_deletion	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1786_1800delCTCAAGGGGATCTTT	1.37:g.53546529_53546543delCTCAAGGGGATCTTT	ENSP00000308315:p.Leu596_Phe600del		53319117	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	In_Frame_Del	DEL	ENST00000312553.5	37	CCDS573.1																																																																																				0.614	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		-	53546543	CTCAAGGGGATCTTT	-	53546529	7	5	51	1	0	1	0	1	0	0	0	0	12178	681	24	0	1820	0	PODN	1	53546529	In_Frame_Del	DEL	CTCAAGGGGATCTTT	TCGA-09-1675-01B-01W-0633-09	15319063	53546529	195704092	4	2455											
DCLRE1B	64858	genome.wustl.edu	37	1	114454658	114454658	+	Missense_Mutation	SNP	C	C	A	rs201447479		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:114454658C>A	ENST00000369563.3	+	4	1890	c.1444C>A	c.(1444-1446)Ccc>Acc	p.P482T	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	482					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGGTTCTCCCCTGTCCCA	0.537								Other identified genes with known or suspected DNA repair function																																								0			1											101	107	105					1																	114454658		2203	4300	6503	114256181	SO:0001583	missense	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1444C>A	1.37:g.114454658C>A	ENSP00000358576:p.Pro482Thr		114256181	Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616200	0.28801	.	.	ENSG00000118655	ENST00000369563	T	0.75477	-0.94	5.12	3.2	0.36748	.	0.552403	0.17931	N	0.157172	T	0.41190	0.1148	L	0.29908	0.895	0.09310	N	1	B	0.30793	0.295	B	0.30029	0.11	T	0.24225	-1.0166	10	0.46703	T	0.11	-15.0619	7.3171	0.26507	0.0:0.7357:0.1713:0.0931	.	482	Q9H816	DCR1B_HUMAN	T	482	ENSP00000358576:P482T	ENSP00000358576:P482T	P	+	1	0	DCLRE1B	114256181	0.000000	0.05858	0.003000	0.11579	0.276000	0.26787	0.090000	0.15025	0.795000	0.33922	0.655000	0.94253	CCC		0.537	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		A	114454658	C	A	114454658	3	1	51	1	0	0	0	0	1	0	0	0	4295	855	30	3	1458	3	DCLRE1B	1	114454658	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	60908129	114454658	134795963	5	2456											
OR10J3	441911	genome.wustl.edu	37	1	159283703	159283703	+	Silent	SNP	G	G	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:159283703G>A	ENST00000332217.5	-	1	746	c.747C>T	c.(745-747)gtC>gtT	p.V249V		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGTGGATGATGACCACTGTGA	0.512																																																0			1											135	116	122					1																	159283703		2203	4300	6503	157550327	SO:0001819	synonymous_variant	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.747C>T	1.37:g.159283703G>A			157550327		Silent	SNP	ENST00000332217.5	37	CCDS30909.1																																																																																				0.512	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			A	159283703	G	A	159283703	2	1	51	1	0	0	0	0	0	0	0	1	10911	1277	45	2		2	OR10J3	1	159283703	Silent	SNP	G	TCGA-09-1675-01B-01W-0633-09	44829045	159283703	89966918	6	2457											
OR10J3	441911	genome.wustl.edu	37	1	159283873	159283910	+	Frame_Shift_Del	DEL	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	-	rs148881868|rs376626818|rs143263954	byFrequency	TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:159283873_159283910delTGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	ENST00000332217.5	-	1	539_576	c.540_577delTGATGTGAGACACCTGCTGAAGCTGGCCTGCACAGACA	c.(538-579)tgtgatgtgagacacctgctgaagctggcctgcacagacaccfs	p.DVRHLLKLACTDT181fs		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C180*(1)|p.V182L(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGACAGTGGTGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCACAGAAGAAGT	0.492																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(2)	1																																								157550534	SO:0001589	frameshift_variant	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.540_577delTGATGTGAGACACCTGCTGAAGCTGGCCTGCACAGACA	1.37:g.159283873_159283910delTGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	ENSP00000331789:p.Asp181fs		157550497		Frame_Shift_Del	DEL	ENST00000332217.5	37	CCDS30909.1																																																																																				0.492	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			-	159283910	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	-	159283873	7	5	51	1	0	1	0	1	0	0	0	0	10911	1696	59	0	414	0	OR10J3	1	159283873	Frame_Shift_Del	DEL	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	TCGA-09-1675-01B-01W-0633-09	170	159283873	89966748	7	2458											
HMCN1	83872	genome.wustl.edu	37	1	185964060	185964060	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:185964060G>T	ENST00000271588.4	+	24	3848	c.3619G>T	c.(3619-3621)Ggt>Tgt	p.G1207C	HMCN1_ENST00000367492.2_Missense_Mutation_p.G1207C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1207	Ig-like C2-type 9.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGTCCAAAGGTGGAAGCAC	0.478																																																0			1											145	131	136					1																	185964060		2203	4299	6502	184230683	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3619G>T	1.37:g.185964060G>T	ENSP00000271588:p.Gly1207Cys		184230683	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312269	0.40895	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.33216	1.42;1.42	5.35	3.42	0.39159	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.396244	0.30419	N	0.009680	T	0.49762	0.1576	M	0.76328	2.33	0.29155	N	0.878123	D	0.71674	0.998	P	0.61800	0.894	T	0.51276	-0.8726	10	0.72032	D	0.01	.	11.9017	0.52687	0.1514:0.0:0.8486:0.0	.	1207	Q96RW7	HMCN1_HUMAN	C	1207	ENSP00000271588:G1207C;ENSP00000356462:G1207C	ENSP00000271588:G1207C	G	+	1	0	HMCN1	184230683	1.000000	0.71417	0.094000	0.20943	0.016000	0.09150	5.883000	0.69721	1.350000	0.45770	0.650000	0.86243	GGT		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185964060	G	T	185964060	3	4	51	1	0	0	0	0	1	0	0	0	7220	1000	35	3	3713	3	HMCN1	1	185964060	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	26680187	185964060	63286561	8	2459											
OR14A16	284532	genome.wustl.edu	37	1	247978884	247978884	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:247978884C>A	ENST00000357627.1	-	1	147	c.148G>T	c.(148-150)Gac>Tac	p.D50Y		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGATGATGGTCCAAAGTTGTG	0.398																																					Ovarian(112;180 1586 15073 21914 33526)											0			1											80	79	79					1																	247978884		2203	4300	6503	246045507	SO:0001583	missense	284532			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.148G>T	1.37:g.247978884C>A	ENSP00000350248:p.Asp50Tyr		246045507	Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625394	0.46840	.	.	ENSG00000196772	ENST00000357627	T	0.02974	4.09	3.51	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.136606	0.32204	U	0.006439	T	0.22704	0.0548	H	0.97587	4.035	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.23904	-1.0175	10	0.87932	D	0	.	10.7528	0.46219	0.1904:0.8096:0.0:0.0	.	50	Q8NHC5	O14AG_HUMAN	Y	50	ENSP00000350248:D50Y	ENSP00000350248:D50Y	D	-	1	0	OR14A16	246045507	0.001000	0.12720	0.021000	0.16686	0.138000	0.21146	0.070000	0.14573	2.010000	0.58986	0.590000	0.80494	GAC		0.398	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		A	247978884	C	A	247978884	3	1	51	1	0	0	0	0	1	0	0	0	10945	855	30	3	785	3	OR14A16	1	247978884	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	62014824	247978884	1271737	9	2460											
CAD	790	genome.wustl.edu	37	2	27448706	27448706	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:27448706C>G	ENST00000403525.1	+	12	1898	c.1754C>G	c.(1753-1755)aCc>aGc	p.T585S	CAD_ENST00000264705.4_Missense_Mutation_p.T585S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.T585S(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGCCCATACCAGCCAAGTG	0.572																																																1	Substitution - Missense(1)	endometrium(1)	2											113	106	108					2																	27448706		2203	4300	6503	27302210	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1754C>G	2.37:g.27448706C>G	ENSP00000384510:p.Thr585Ser		27302210	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	7.662	0.685073	0.14973	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96396	-4.0;-4.0	5.65	5.65	0.86999	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.045477	0.85682	N	0.000000	D	0.83931	0.5361	N	0.00289	-1.7	0.49915	D	0.999838	B;B	0.18968	0.032;0.002	B;B	0.21360	0.034;0.017	T	0.83243	-0.0057	10	0.02654	T	1	-0.3458	18.3447	0.90317	0.0:1.0:0.0:0.0	.	585;585	F8VPD4;P27708	.;PYR1_HUMAN	S	585	ENSP00000264705:T585S;ENSP00000384510:T585S	ENSP00000264705:T585S	T	+	2	0	CAD	27302210	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.741000	0.68638	2.683000	0.91414	0.456000	0.33151	ACC		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			G	27448706	C	G	27448706	3	3	51	1	0	0	0	0	1	0	0	0	2565	507	18	3	1800	3	CAD	2	27448706	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09		27448706	215750667	10	2461											
GCKR	2646	genome.wustl.edu	37	2	27730593	27730601	+	In_Frame_Del	DEL	CTTCCCTCT	CTTCCCTCT	-			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	CTTCCCTCT	CTTCCCTCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:27730593_27730601delCTTCCCTCT	ENST00000264717.2	+	14	1252_1260	c.1189_1197delCTTCCCTCT	c.(1189-1197)cttccctctdel	p.LPS397del	GCKR_ENST00000424318.2_In_Frame_Del_p.LPS207del	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	397	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACTTCCATCCTTCCCTCTCTCACGGAAA	0.536																																																0			2																																								27584105	SO:0001651	inframe_deletion	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1189_1197delCTTCCCTCT	2.37:g.27730593_27730601delCTTCCCTCT	ENSP00000264717:p.Leu397_Ser399del		27584097	A1L4C2|B4DPQ2|Q53RY6|Q99522	In_Frame_Del	DEL	ENST00000264717.2	37	CCDS1757.1																																																																																				0.536	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		-	27730601	CTTCCCTCT	-	27730593	7	5	51	1	0	1	0	1	0	0	0	0	6294	681	24	0	1243	0	GCKR	2	27730593	In_Frame_Del	DEL	CTTCCCTCT	TCGA-09-1675-01B-01W-0633-09	281887	27730593	215468780	11	2462											
FBXO11	80204	genome.wustl.edu	37	2	48061973	48061973	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:48061973T>C	ENST00000403359.3	-	6	827	c.755A>G	c.(754-756)cAt>cGt	p.H252R	FBXO11_ENST00000316377.4_Missense_Mutation_p.H168R|FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000402508.1_Missense_Mutation_p.H168R|FBXO11_ENST00000480038.1_5'Flank	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	252					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGTAGAAATGTTCAGCAAA	0.279			"Mis, F, D"		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2											104	104	104					2																	48061973		2203	4295	6498	47915477	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.755A>G	2.37:g.48061973T>C	ENSP00000384823:p.His252Arg		47915477	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	T	9.228	1.035017	0.19590	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377	T;T;T	0.42900	0.99;0.96;0.99	5.89	5.89	0.94794	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	N	0.14661	0.345	0.80722	D	1	P	0.40431	0.717	P	0.49047	0.599	T	0.10245	-1.0638	10	0.08179	T	0.78	-6.6549	16.3071	0.82852	0.0:0.0:0.0:1.0	.	252	Q86XK2	FBX11_HUMAN	R	168;252;168	ENSP00000385398:H168R;ENSP00000384823:H252R;ENSP00000323822:H168R	ENSP00000323822:H168R	H	-	2	0	FBXO11	47915477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.250000	0.74265	0.477000	0.44152	CAT		0.279	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		C	48061973	T	C	48061973	3	2	51	1	0	0	0	0	1	0	0	0	5727	1464	51	4	2190	4	FBXO11	2	48061973	Missense_Mutation	SNP	T	TCGA-09-1675-01B-01W-0633-09	20331380	48061973	195137400	12	2463											
CCDC85A	114800	genome.wustl.edu	37	2	56599533	56599533	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:56599533G>T	ENST00000407595.2	+	4	1874	c.1372G>T	c.(1372-1374)Ggc>Tgc	p.G458C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	458										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATGGAGAAAGGCTGGGGGTC	0.507																																																0			2											29	32	31					2																	56599533		1899	4112	6011	56453037	SO:0001583	missense	114800			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1372G>T	2.37:g.56599533G>T	ENSP00000384040:p.Gly458Cys		56453037		Missense_Mutation	SNP	ENST00000407595.2	37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836946	0.71373	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	4.95	0.65309	.	0.000000	0.53938	D	0.000058	T	0.37156	0.0993	N	0.08118	0	0.41111	D	0.985747	D	0.56287	0.975	P	0.51487	0.671	T	0.37619	-0.9698	9	0.72032	D	0.01	-30.3556	11.3652	0.49668	0.0859:0.0:0.9141:0.0	.	458	Q96PX6	CC85A_HUMAN	C	458;47	.	ENSP00000384040:G458C	G	+	1	0	CCDC85A	56453037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.651000	0.46674	2.767000	0.95098	0.591000	0.81541	GGC		0.507	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			T	56599533	G	T	56599533	3	4	51	1	0	0	0	0	1	0	0	0	2859	1000	35	3	1386	3	CCDC85A	2	56599533	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	8537560	56599533	186599840	13	2464											
LY75	4065	genome.wustl.edu	37	2	160755469	160755469	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:160755469A>T	ENST00000263636.4	-	2	223	c.196T>A	c.(196-198)Tta>Ata	p.L66I	LY75_ENST00000553424.1_Missense_Mutation_p.L66I|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L66I|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L66I|LY75_ENST00000554112.1_Missense_Mutation_p.L66I	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	66	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CACTTCCATAACTTGTCCTCA	0.478																																																0			2											152	130	137					2																	160755469		2203	4300	6503	160463715	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.196T>A	2.37:g.160755469A>T	ENSP00000263636:p.Leu66Ile		160463715	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.526912	0.64860	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	6.02	-0.467	0.12150	Ricin B-related lectin (1);Ricin B lectin (2);	0.357587	0.15516	N	0.258310	T	0.54727	0.1876	M	0.82630	2.6	0.21527	N	0.999658	D;P;P	0.53745	0.962;0.842;0.465	P;B;B	0.53649	0.731;0.424;0.178	T	0.53012	-0.8498	10	0.33940	T	0.23	-2.5003	12.3157	0.54955	0.5724:0.0:0.4276:0.0	.	66;66;66	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	I	66	ENSP00000451511:L66I;ENSP00000451446:L66I;ENSP00000263636:L66I;ENSP00000423463:L66I;ENSP00000421035:L66I	ENSP00000423463:L66I	L	-	1	2	LY75;LY75-CD302	160463715	0.301000	0.24444	0.629000	0.29254	0.792000	0.44763	0.280000	0.18790	-0.039000	0.13602	0.533000	0.62120	TTA		0.478	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			T	160755469	A	T	160755469	3	4	51	1	0	0	0	0	1	0	0	0	9099	40	2	5	5108	5	LY75	2	160755469	Missense_Mutation	SNP	A	TCGA-09-1675-01B-01W-0633-09	104155936	160755469	82443904	14	2465											
LRP2	4036	genome.wustl.edu	37	2	169993965	169993965	+	Silent	SNP	T	T	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:169993965T>A	ENST00000263816.3	-	76	13842	c.13557A>T	c.(13555-13557)atA>atT	p.I4519I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4519					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTTCAAATATTATGGGCTGCT	0.443																																																0			2											168	161	163					2																	169993965		2203	4300	6503	169702211	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13557A>T	2.37:g.169993965T>A			169702211	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	169993965	T	A	169993965	2	1	51	1	0	0	0	0	0	0	0	1	8956	1744	61	5		5	LRP2	2	169993965	Silent	SNP	T	TCGA-09-1675-01B-01W-0633-09	9238496	169993965	73205408	15	2466											
GPR1	2825	genome.wustl.edu	37	2	207041567	207041567	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:207041567G>T	ENST00000407325.2	-	3	767	c.405C>A	c.(403-405)caC>caA	p.H135Q	GPR1_ENST00000437420.1_Missense_Mutation_p.H135Q	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	135					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGTGGATATAGTGGTCCAGGC	0.453																																																0			2											117	109	112					2																	207041567		2203	4300	6503	206749812	SO:0001583	missense	2825				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.405C>A	2.37:g.207041567G>T	ENSP00000384345:p.His135Gln		206749812	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101568	0.37048	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.84	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.056337	0.64402	D	0.000001	T	0.55162	0.1903	N	0.19112	0.55	0.26810	N	0.969019	B	0.20459	0.045	B	0.19666	0.026	T	0.53514	-0.8428	10	0.87932	D	0	.	10.5521	0.45095	0.0765:0.2411:0.6823:0.0	.	135	P46091	GPR1_HUMAN	Q	135	ENSP00000384345:H135Q;ENSP00000397535:H135Q;ENSP00000414836:H135Q;ENSP00000391146:H135Q;ENSP00000414524:H135Q	ENSP00000384345:H135Q	H	-	3	2	GPR1	206749812	0.992000	0.36948	1.000000	0.80357	0.892000	0.51952	0.186000	0.16978	2.768000	0.95171	0.650000	0.86243	CAC		0.453	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		T	207041567	G	T	207041567	3	4	51	1	0	0	0	0	1	0	0	0	6621	1020	36	3	666	3	GPR1	2	207041567	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	37047602	207041567	36157806	16	2467											
CCDC108	255101	genome.wustl.edu	37	2	219868963	219868963	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:219868963C>A	ENST00000341552.5	-	33	5349	c.5266G>T	c.(5266-5268)Ggg>Tgg	p.G1756W	CCDC108_ENST00000441968.1_Missense_Mutation_p.G1756W|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.G1756W|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1756						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tTTCCCAACCCTGGATAGTGC	0.542																																																0			2											147	141	143					2																	219868963		2203	4300	6503	219577207	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5266G>T	2.37:g.219868963C>A	ENSP00000340776:p.Gly1756Trp		219577207	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	3.427	-0.116910	0.06838	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05139	3.49;3.49;3.49	0.95	-1.53	0.08611	.	2.524670	0.01534	N	0.018917	T	0.05914	0.0154	N	0.22421	0.69	0.09310	N	1	P	0.51933	0.949	B	0.43889	0.435	T	0.20042	-1.0287	10	0.66056	D	0.02	0.0015	4.285	0.10850	0.0:0.5229:0.0:0.4771	.	1756	Q6ZU64	CC108_HUMAN	W	1756	ENSP00000340776:G1756W;ENSP00000413377:G1756W;ENSP00000409117:G1756W	ENSP00000340776:G1756W	G	-	1	0	CCDC108	219577207	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.380000	0.07427	-0.631000	0.05560	-0.367000	0.07326	GGG		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		A	219868963	C	A	219868963	3	1	51	1	0	0	0	0	1	0	0	0	2743	681	24	3	523	3	CCDC108	2	219868963	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	12827396	219868963	23330410	17	2468											
SATB1	6304	genome.wustl.edu	37	3	18391169	18391169	+	Silent	SNP	C	C	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr3:18391169C>T	ENST00000338745.6	-	11	3519	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	SATB1_ENST00000454909.2_Silent_p.Q595Q|SATB1_ENST00000417717.2_Silent_p.Q627Q|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	595	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						gttgctgctgctgttgctgcA	0.587																																																0			3											9	10	9					3																	18391169		2164	4251	6415	18366173	SO:0001819	synonymous_variant	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1785G>A	3.37:g.18391169C>T			18366173	B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	CCDS2631.1																																																																																				0.587	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		T	18391169	C	T	18391169	2	4	51	1	0	0	0	0	0	0	0	1	13856	796	28	2		2	SATB1	3	18391169	Silent	SNP	C	TCGA-09-1675-01B-01W-0633-09		18391169	179631261	18	2469											
CDCP1	64866	genome.wustl.edu	37	3	45127350	45127350	+	Missense_Mutation	SNP	G	G	T	rs570761435		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr3:45127350G>T	ENST00000296129.1	-	9	2425	c.2291C>A	c.(2290-2292)cCg>cAg	p.P764Q		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	764						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCCTGGAACGGCCGGTAGGT	0.612																																																0			3											94	91	92					3																	45127350		2203	4300	6503	45102354	SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2291C>A	3.37:g.45127350G>T	ENSP00000296129:p.Pro764Gln		45102354	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743656	0.69418	.	.	ENSG00000163814	ENST00000296129	T	0.33654	1.4	5.67	4.79	0.61399	.	0.106393	0.64402	D	0.000005	T	0.60586	0.2280	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65286	-0.6205	10	0.62326	D	0.03	.	16.7578	0.85504	0.0:0.1291:0.8709:0.0	.	764	Q9H5V8	CDCP1_HUMAN	Q	764	ENSP00000296129:P764Q	ENSP00000296129:P764Q	P	-	2	0	CDCP1	45102354	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.228000	0.78079	1.392000	0.46585	0.563000	0.77884	CCG		0.612	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		T	45127350	G	T	45127350	3	4	51	1	0	0	0	0	1	0	0	0	3093	1116	39	3	223	3	CDCP1	3	45127350	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	26736181	45127350	152895080	19	2470											
MYH15	22989	genome.wustl.edu	37	3	108107824	108107824	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr3:108107824G>T	ENST00000273353.3	-	39	5644	c.5588C>A	c.(5587-5589)aCc>aAc	p.T1863N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1863						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACCTGATAGGTCAGCTCTTT	0.552																																																0			3											101	108	106					3																	108107824		2007	4176	6183	109590514	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5588C>A	3.37:g.108107824G>T	ENSP00000273353:p.Thr1863Asn		109590514		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785706	0.70337	.	.	ENSG00000144821	ENST00000273353	T	0.78481	-1.18	5.66	0.63	0.17693	Myosin tail (1);	.	.	.	.	T	0.74215	0.3687	M	0.77103	2.36	0.33982	D	0.648113	B	0.15473	0.013	B	0.26770	0.073	T	0.69749	-0.5061	9	0.62326	D	0.03	.	4.2445	0.10665	0.1299:0.2322:0.5178:0.1201	.	1863	Q9Y2K3	MYH15_HUMAN	N	1863	ENSP00000273353:T1863N	ENSP00000273353:T1863N	T	-	2	0	MYH15	109590514	1.000000	0.71417	0.000000	0.03702	0.861000	0.49209	1.420000	0.34804	-0.168000	0.10853	-0.140000	0.14226	ACC		0.552	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		T	108107824	G	T	108107824	3	4	51	1	0	0	0	0	1	0	0	0	10034	1261	44	3	268	3	MYH15	3	108107824	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	62980474	108107824	89914606	20	2471											
PPP2R2C	5522	genome.wustl.edu	37	4	6377561	6377561	+	Silent	SNP	C	C	T	rs144455156		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr4:6377561C>T	ENST00000382599.4	-	4	648	c.432G>A	c.(430-432)acG>acA	p.T144T	PPP2R2C_ENST00000335585.5_Silent_p.T144T|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Silent_p.T137T|PPP2R2C_ENST00000515571.1_Silent_p.T127T|PPP2R2C_ENST00000506140.1_Silent_p.T137T			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	144					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTGACGTCACCGTGGACAGGT	0.473																																																0			4						C	,,,	0,4406		0,0,2203	157	147	150		411,411,381,432	-8.2	0.6	4	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2C	NM_001206994.1,NM_001206995.1,NM_001206996.1,NM_181876.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	137/441,137/441,127/431,144/448	6377561	1,13005	2203	4300	6503	6428462	SO:0001819	synonymous_variant	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.432G>A	4.37:g.6377561C>T			6428462	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37																																																																																					0.473	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		T	6377561	C	T	6377561	2	4	51	1	0	0	0	0	0	0	0	1	12389	639	23	1		1	PPP2R2C	4	6377561	Silent	SNP	C	TCGA-09-1675-01B-01W-0633-09		6377561	184776715	21	2472											
UGT2B11	10720	genome.wustl.edu	37	4	70080377	70080377	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr4:70080377T>A	ENST00000446444.1	-	1	72	c.64A>T	c.(64-66)Agt>Tgt	p.S22C	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	22					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTCCACAACTCCCAGAGCTA	0.448																																																0			4											195	200	198					4																	70080377		2203	4300	6503	70114966	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.64A>T	4.37:g.70080377T>A	ENSP00000387683:p.Ser22Cys		70114966	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	7.723	0.697664	0.15106	.	.	ENSG00000213759	ENST00000446444	T	0.61040	0.14	1.96	-1.11	0.09840	.	2.751080	0.02093	U	0.053276	T	0.63803	0.2542	M	0.84433	2.695	0.09310	N	1	D	0.55172	0.97	P	0.48089	0.566	T	0.50363	-0.8837	10	0.38643	T	0.18	.	1.9646	0.03393	0.4446:0.2145:0.0:0.3408	.	22	O75310	UDB11_HUMAN	C	22	ENSP00000387683:S22C	ENSP00000387683:S22C	S	-	1	0	UGT2B11	70114966	0.000000	0.05858	0.152000	0.22495	0.150000	0.21749	0.056000	0.14256	0.061000	0.16311	0.155000	0.16302	AGT		0.448	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		A	70080377	T	A	70080377	3	1	51	1	0	0	0	0	1	0	0	0	16957	1551	54	5	1549	5	UGT2B11	4	70080377	Missense_Mutation	SNP	T	TCGA-09-1675-01B-01W-0633-09	63702816	70080377	121073899	22	2473											
TBCK	93627	genome.wustl.edu	37	4	107170083	107170083	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr4:107170083T>C	ENST00000273980.5	-	9	1162	c.715A>G	c.(715-717)Ata>Gta	p.I239V	TBCK_ENST00000432496.2_Missense_Mutation_p.I239V|TBCK_ENST00000394708.2_Missense_Mutation_p.I239V|TBCK_ENST00000361687.4_Missense_Mutation_p.I176V|TBCK_ENST00000394706.3_Missense_Mutation_p.I200V					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAAACCTTTATAATGTCCAAA	0.294																																																0			4											79	77	78					4																	107170083		2202	4298	6500	107389532	SO:0001583	missense	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.715A>G	4.37:g.107170083T>C	ENSP00000273980:p.Ile239Val		107389532		Missense_Mutation	SNP	ENST00000273980.5	37	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720590	0.30503	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13	5.45	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.083079	0.85682	N	0.000000	T	0.05593	0.0147	L	0.28344	0.845	0.45490	D	0.998451	B;B;B	0.11235	0.0;0.004;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.38735	-0.9647	10	0.22109	T	0.4	.	6.5123	0.22228	0.1377:0.0735:0.0:0.7888	.	239;200;176	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	V	239;239;176;200;239	ENSP00000273980:I239V;ENSP00000405847:I239V;ENSP00000355338:I176V;ENSP00000378196:I200V;ENSP00000378198:I239V	ENSP00000273980:I239V	I	-	1	0	TBCK	107389532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.914000	0.48797	0.902000	0.36520	0.528000	0.53228	ATA		0.294	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		C	107170083	T	C	107170083	3	2	51	1	0	0	0	0	1	0	0	0	15636	1406	49	4	2042	4	TBCK	4	107170083	Missense_Mutation	SNP	T	TCGA-09-1675-01B-01W-0633-09	37089706	107170083	83984193	23	2474											
FAT4	79633	genome.wustl.edu	37	4	126372307	126372307	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr4:126372307G>T	ENST00000394329.3	+	9	10149	c.10136G>T	c.(10135-10137)gGc>gTc	p.G3379V	FAT4_ENST00000335110.5_Missense_Mutation_p.G1677V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3379	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGAACTTTGGCAGCATTAGA	0.403																																																0			4											162	158	159					4																	126372307		2203	4300	6503	126591757	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10136G>T	4.37:g.126372307G>T	ENSP00000377862:p.Gly3379Val		126591757	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768661	0.49680	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.03441	3.93;3.93	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.34828	U	0.003642	T	0.30448	0.0765	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.48305	-0.9047	10	0.87932	D	0	.	18.9292	0.92558	0.0:0.0:1.0:0.0	.	1677;3379;3379	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3379;1677	ENSP00000377862:G3379V;ENSP00000335169:G1677V	ENSP00000335169:G1677V	G	+	2	0	FAT4	126591757	1.000000	0.71417	0.999000	0.59377	0.214000	0.24535	9.666000	0.98612	2.461000	0.83175	0.655000	0.94253	GGC		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126372307	G	T	126372307	3	4	51	1	0	0	0	0	1	0	0	0	5692	1203	42	3	10170	3	FAT4	4	126372307	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	19202224	126372307	64781969	24	2475											
VCAN	1462	genome.wustl.edu	37	5	82785990	82785990	+	Silent	SNP	G	G	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr5:82785990G>A	ENST00000265077.3	+	3	709	c.144G>A	c.(142-144)acG>acA	p.T48T	VCAN_ENST00000342785.4_Silent_p.T48T|VCAN_ENST00000343200.5_Silent_p.T48T|VCAN_ENST00000512590.2_De_novo_Start_InFrame|VCAN_ENST00000502527.2_Silent_p.T48T|VCAN_ENST00000513984.1_Silent_p.T48T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	48	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATTTTTCAACGATGCCTACTT	0.418																																																0			5											81	78	79					5																	82785990		2203	4300	6503	82821746	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.144G>A	5.37:g.82785990G>A			82821746	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82785990	G	A	82785990	2	1	51	1	0	0	0	0	0	0	0	1	17138	1045	37	1		1	VCAN	5	82785990	Silent	SNP	G	TCGA-09-1675-01B-01W-0633-09		82785990	98129270	25	2476											
SPOCK1	6695	genome.wustl.edu	37	5	136320850	136320850	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr5:136320850T>A	ENST00000394945.1	-	9	1139	c.970A>T	c.(970-972)Agt>Tgt	p.S324C	SPOCK1_ENST00000282223.7_Missense_Mutation_p.S324C|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	324	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCCCTTACTCAGCTTCTGA	0.393																																																0			5											190	182	185					5																	136320850		2203	4300	6503	136348749	SO:0001583	missense	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.970A>T	5.37:g.136320850T>A	ENSP00000378401:p.Ser324Cys		136348749	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.776781	0.70107	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.64618	-0.11;-0.11	5.82	5.82	0.92795	Thyroglobulin type-1 (4);	0.127047	0.64402	D	0.000001	T	0.67059	0.2853	L	0.49126	1.545	0.45025	D	0.998049	D	0.58620	0.983	P	0.54346	0.749	T	0.70121	-0.4959	10	0.66056	D	0.02	.	11.3785	0.49743	0.0:0.0:0.1512:0.8488	.	324	Q08629	TICN1_HUMAN	C	324	ENSP00000378401:S324C;ENSP00000282223:S324C	ENSP00000282223:S324C	S	-	1	0	SPOCK1	136348749	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	2.012000	0.40932	2.227000	0.72691	0.454000	0.30748	AGT		0.393	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		A	136320850	T	A	136320850	3	1	51	1	0	0	0	0	1	0	0	0	15081	1551	54	5	361	5	SPOCK1	5	136320850	Missense_Mutation	SNP	T	TCGA-09-1675-01B-01W-0633-09	53534860	136320850	44594410	26	2477											
PCDHA1	56147	genome.wustl.edu	37	5	140168195	140168195	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr5:140168195C>A	ENST00000504120.2	+	1	2320	c.2320C>A	c.(2320-2322)Cca>Aca	p.P774T	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P774T|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	774	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTCAGCCCAGGCCTATC	0.532																																																0			5											45	43	43					5																	140168195		2203	4300	6503	140148379	SO:0001583	missense	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2320C>A	5.37:g.140168195C>A	ENSP00000420840:p.Pro774Thr		140148379	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	10.96	1.499388	0.26861	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.27256	1.68;1.68	4.34	4.34	0.51931	.	0.000000	0.39341	U	0.001396	T	0.60573	0.2279	H	0.94734	3.575	0.27378	N	0.955486	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	T	0.62534	-0.6834	10	0.72032	D	0.01	.	12.8001	0.57580	0.0:0.9172:0.0:0.0828	.	774;774	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	T	774	ENSP00000420840:P774T;ENSP00000367373:P774T	ENSP00000367373:P774T	P	+	1	0	PCDHA1	140148379	0.985000	0.35326	0.823000	0.32752	0.158000	0.22134	2.258000	0.43249	2.145000	0.66743	0.644000	0.83932	CCA		0.532	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		A	140168195	C	A	140168195	3	1	51	1	0	0	0	0	1	0	0	0	11519	623	22	3	2322	3	PCDHA1	5	140168195	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	3847345	140168195	40747065	27	2478											
UBTD2	92181	genome.wustl.edu	37	5	171639071	171639071	+	Silent	SNP	C	C	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr5:171639071C>T	ENST00000393792.2	-	3	873	c.468G>A	c.(466-468)ttG>ttA	p.L156L		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	156	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGAAAGGCGCAAACGAAGCT	0.502																																																0			5											173	151	158					5																	171639071		2203	4300	6503	171571676	SO:0001819	synonymous_variant	92181			AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"dendritic cell derived ubiquitin like protein"	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.468G>A	5.37:g.171639071C>T			171571676	Q8TDQ3	Silent	SNP	ENST00000393792.2	37	CCDS4379.2																																																																																				0.502	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277		T	171639071	C	T	171639071	2	4	51	1	0	0	0	0	0	0	0	1	16908	709	25	2		2	UBTD2	5	171639071	Silent	SNP	C	TCGA-09-1675-01B-01W-0633-09	31470876	171639071	9276189	28	2479											
OR2B3	442184	genome.wustl.edu	37	6	29054904	29054904	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr6:29054904C>A	ENST00000377173.2	-	1	186	c.122G>T	c.(121-123)gGc>gTc	p.G41V		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GGACACATTGCCAAATATGGT	0.408																																																0			6											142	132	135					6																	29054904		2203	4300	6503	29162883	SO:0001583	missense	442184				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	8238	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.122G>T	6.37:g.29054904C>A	ENSP00000366378:p.Gly41Val		29162883	B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898253	0.33535	.	.	ENSG00000204703	ENST00000377173	T	0.04406	3.63	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	U	0.000923	T	0.21062	0.0507	H	0.98027	4.13	0.33800	D	0.626531	D	0.71674	0.998	D	0.67548	0.952	T	0.40175	-0.9577	10	0.87932	D	0	.	9.4102	0.38487	0.0:0.8975:0.0:0.1025	.	41	O76000	OR2B3_HUMAN	V	41	ENSP00000366378:G41V	ENSP00000366378:G41V	G	-	2	0	OR2B3	29162883	0.000000	0.05858	0.692000	0.30179	0.631000	0.37964	-0.230000	0.09083	1.696000	0.51158	0.579000	0.79373	GGC		0.408	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			A	29054904	C	A	29054904	3	1	51	1	0	0	0	0	1	0	0	0	10990	739	26	3	823	3	OR2B3	6	29054904	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09		29054904	142060163	29	2480											
C6orf57	135154	genome.wustl.edu	37	6	71289270	71289270	+	Splice_Site	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr6:71289270G>T	ENST00000370474.3	+	2	241		c.e2+1			NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57						innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)				kidney(1)|lung(1)|skin(1)	3						CCACTGGAAAGTAAGTATAAT	0.353																																																0			6											72	73	73					6																	71289270		2203	4300	6503	71345991	SO:0001630	splice_region_variant	135154			BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.217+1G>T	6.37:g.71289270G>T			71345991	E1P532	Splice_Site	SNP	ENST00000370474.3	37	CCDS4972.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003896	0.54254	.	.	ENSG00000154079	ENST00000370474	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3809	0.87404	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf57	71345991	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	6.374000	0.73132	2.457000	0.83068	0.551000	0.68910	.		0.353	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041140.1	NM_145267	Intron	T	71289270	G	T	71289270	5	4	51	1	0	0	0	0	0	0	1	0	2366	1043	36	3	224	3	C6orf57	6	71289270	Splice_Site	SNP	G	TCGA-09-1675-01B-01W-0633-09	42234366	71289270	99825797	30	2481											
GRIK2	2898	genome.wustl.edu	37	6	102074301	102074301	+	Silent	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr6:102074301A>T	ENST00000421544.1	+	3	820	c.330A>T	c.(328-330)tcA>tcT	p.S110S	GRIK2_ENST00000358361.3_Silent_p.S110S|GRIK2_ENST00000369138.1_Silent_p.S110S|GRIK2_ENST00000369134.4_Silent_p.S61S|GRIK2_ENST00000369137.3_Silent_p.S110S|GRIK2_ENST00000413795.1_Silent_p.S110S|GRIK2_ENST00000318991.6_Silent_p.S110S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	110					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.S110S(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCGGGCCTTCACACAGCTCAT	0.532																																																2	Substitution - coding silent(2)	large_intestine(2)	6											171	172	172					6																	102074301		2203	4300	6503	102180994	SO:0001819	synonymous_variant	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.330A>T	6.37:g.102074301A>T			102180994	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	CCDS5048.1																																																																																				0.532	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			T	102074301	A	T	102074301	2	4	51	1	0	0	0	0	0	0	0	1	6774	146	6	5		5	GRIK2	6	102074301	Silent	SNP	A	TCGA-09-1675-01B-01W-0633-09	30785031	102074301	69040766	31	2482											
GPR85	54329	genome.wustl.edu	37	7	112724273	112724273	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr7:112724273C>A	ENST00000297146.3	-	3	1107	c.504G>T	c.(502-504)gaG>gaT	p.E168D	GPR85_ENST00000424100.1_Missense_Mutation_p.E168D|GPR85_ENST00000501255.2_Missense_Mutation_p.E168D|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.E168D	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	168					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATTGATCTTCCTCCCTAATGA	0.498																																																0			7											86	77	80					7																	112724273		2203	4300	6503	112511509	SO:0001583	missense	54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.504G>T	7.37:g.112724273C>A	ENSP00000297146:p.Glu168Asp		112511509	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444195	0.25987	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.41	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	L	0.33245	0.995	0.80722	D	1	B	0.14805	0.011	B	0.18263	0.021	T	0.04621	-1.0938	10	0.11794	T	0.64	.	11.3914	0.49817	0.0:0.8574:0.0:0.1426	.	168	P60893	GPR85_HUMAN	D	168	ENSP00000445808:E168D;ENSP00000297146:E168D;ENSP00000396763:E168D;ENSP00000401178:E168D	ENSP00000297146:E168D	E	-	3	2	GPR85	112511509	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.198000	0.42705	0.740000	0.32651	0.650000	0.86243	GAG		0.498	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			A	112724273	C	A	112724273	3	1	51	1	0	0	0	0	1	0	0	0	6715	680	24	3	612	3	GPR85	7	112724273	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09		112724273	46414390	32	2483											
KIAA1549	57670	genome.wustl.edu	37	7	138596024	138596024	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr7:138596024G>T	ENST00000422774.1	-	4	3061	c.3013C>A	c.(3013-3015)Cct>Act	p.P1005T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P955T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.P1005T			Q9HCM3	K1549_HUMAN	KIAA1549	1005						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAAACGAAAGGACCGGATGTT	0.378			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0			7											68	66	66					7																	138596024		1865	4102	5967	138246564	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3013C>A	7.37:g.138596024G>T	ENSP00000416040:p.Pro1005Thr		138246564	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533125	0.45073	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.24908	1.83;1.84;1.84	5.23	5.23	0.72850	.	0.078739	0.52532	D	0.000071	T	0.41971	0.1182	L	0.36672	1.1	0.50313	D	0.999863	D;D	0.89917	1.0;1.0	D;D	0.81914	0.989;0.995	T	0.05852	-1.0860	10	0.35671	T	0.21	.	17.9688	0.89107	0.0:0.0:1.0:0.0	.	1005;1005	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	1005;955;1005	ENSP00000406661:P1005T;ENSP00000242365:P955T;ENSP00000416040:P1005T	ENSP00000242365:P955T	P	-	1	0	KIAA1549	138246564	1.000000	0.71417	0.714000	0.30535	0.209000	0.24338	6.862000	0.75484	2.721000	0.93114	0.655000	0.94253	CCT		0.378	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			T	138596024	G	T	138596024	3	4	51	1	0	0	0	0	1	0	0	0	8244	1174	41	3	2907	3	KIAA1549	7	138596024	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	25871751	138596024	20542639	33	2484											
ADAM7	8756	genome.wustl.edu	37	8	24346732	24346732	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr8:24346732T>G	ENST00000175238.6	+	12	1235	c.1152T>G	c.(1150-1152)gaT>gaG	p.D384E	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D384E|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156E	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	384	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTTGAAGGATTATAAGCCAA	0.358																																																0			8											157	134	142					8																	24346732		2203	4300	6503	24402622	SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1152T>G	8.37:g.24346732T>G	ENSP00000175238:p.Asp384Glu		24402622	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753308	0.49362	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.61980	0.06;0.06;0.06	5.74	-2.49	0.06403	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.215318	0.32343	N	0.006233	T	0.52092	0.1713	L	0.31207	0.915	0.09310	N	1	P;D	0.56746	0.939;0.977	P;P	0.57283	0.575;0.817	T	0.55585	-0.8118	10	0.10636	T	0.68	.	7.5594	0.27843	0.0:0.4447:0.1342:0.421	.	156;384	E5RK87;Q9H2U9	.;ADAM7_HUMAN	E	384;384;156;199	ENSP00000175238:D384E;ENSP00000370166:D384E;ENSP00000430400:D156E	ENSP00000175238:D384E	D	+	3	2	ADAM7	24402622	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.693000	0.05121	-0.702000	0.05056	-0.250000	0.11733	GAT		0.358	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		G	24346732	T	G	24346732	3	3	51	1	0	0	0	0	1	0	0	0	251	1490	52	5	1198	5	ADAM7	8	24346732	Missense_Mutation	SNP	T	TCGA-09-1675-01B-01W-0633-09		24346732	122017290	34	2485											
NRG1	3084	genome.wustl.edu	37	8	32621801	32621801	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr8:32621801A>T	ENST00000405005.3	+	12	1804	c.1804A>T	c.(1804-1806)Aca>Tca	p.T602S	RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000539990.1_Missense_Mutation_p.T445S|NRG1_ENST00000519301.1_Missense_Mutation_p.T552S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.T607S|NRG1_ENST00000338921.4_Missense_Mutation_p.T610S|NRG1_ENST00000287842.3_Missense_Mutation_p.T599S|NRG1_ENST00000287845.5_Missense_Mutation_p.T573S			Q02297	NRG1_HUMAN	neuregulin 1	602					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCTTGAGGCAACACCTGCCTT	0.537																																																0			8											53	59	57					8																	32621801		2203	4300	6503	32741343	SO:0001583	missense	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1804A>T	8.37:g.32621801A>T	ENSP00000384620:p.Thr602Ser		32741343	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	6.156	0.397067	0.11638	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.95	2.86	0.33363	Neuregulin 1-related, C-terminal (1);	0.504438	0.21982	N	0.066299	T	0.19604	0.0471	N	0.01874	-0.695	0.09310	N	0.999992	B;B;B;B;B;B;B	0.16166	0.001;0.008;0.01;0.0;0.008;0.016;0.008	B;B;B;B;B;B;B	0.23275	0.001;0.02;0.045;0.0;0.02;0.034;0.026	T	0.25606	-1.0127	9	.	.	.	-9.3965	9.4706	0.38839	0.2573:0.0:0.7427:0.0	.	445;573;607;610;599;602;607	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	S	552;675;610;607;602;573;599;602;445	ENSP00000429582:T552S;ENSP00000429067:T675S;ENSP00000343395:T610S;ENSP00000349275:T607S;ENSP00000287840:T602S;ENSP00000287845:T573S;ENSP00000287842:T599S;ENSP00000384620:T602S;ENSP00000439276:T445S	.	T	+	1	0	NRG1	32741343	0.918000	0.31147	0.629000	0.29254	0.988000	0.76386	1.819000	0.39022	0.266000	0.21894	-0.468000	0.05107	ACA		0.537	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			T	32621801	A	T	32621801	3	4	51	1	0	0	0	0	1	0	0	0	10647	43	2	5	3575	5	NRG1	8	32621801	Missense_Mutation	SNP	A	TCGA-09-1675-01B-01W-0633-09	8275069	32621801	113742221	35	2486											
PXDNL	137902	genome.wustl.edu	37	8	52284521	52284521	+	Silent	SNP	G	G	T	rs376858684		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr8:52284521G>T	ENST00000356297.4	-	19	3913	c.3813C>A	c.(3811-3813)gtC>gtA	p.V1271V	PXDNL_ENST00000543296.1_Silent_p.V1271V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1271					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCTTTACAAAGACATCAGCCT	0.527																																																0			8											77	77	77					8																	52284521		2045	4195	6240	52447074	SO:0001819	synonymous_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3813C>A	8.37:g.52284521G>T			52447074	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	6.604	0.479917	0.12581	.	.	ENSG00000147485	ENST00000522933	.	.	.	5.11	-1.73	0.08081	.	.	.	.	.	T	0.65923	0.2738	.	.	.	0.49483	D	0.99979	.	.	.	.	.	.	T	0.62110	-0.6923	4	.	.	.	.	14.7708	0.69675	0.0736:0.7041:0.2223:0.0	.	.	.	.	Y	345	.	.	S	-	2	0	PXDNL	52447074	0.991000	0.36638	0.000000	0.03702	0.794000	0.44872	0.094000	0.15107	-0.761000	0.04670	0.491000	0.48974	TCT		0.527	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		T	52284521	G	T	52284521	2	4	51	1	0	0	0	0	0	0	0	1	12851	929	33	3		3	PXDNL	8	52284521	Silent	SNP	G	TCGA-09-1675-01B-01W-0633-09	19662720	52284521	94079501	36	2487											
TRAPPC9	83696	genome.wustl.edu	37	8	141310656	141310656	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr8:141310656C>G	ENST00000438773.2	-	11	1813	c.1680G>C	c.(1678-1680)ttG>ttC	p.L560F	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.L658F|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.L551F	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	560					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCTGACCCAGCAAGCTTTTCA	0.438																																																0			8											219	194	203					8																	141310656		2203	4300	6503	141379838	SO:0001583	missense	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1680G>C	8.37:g.141310656C>G	ENSP00000405060:p.Leu560Phe		141379838	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.24|14.24	2.476971|2.476971	0.44044|0.44044	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.92|5.92	4.94|4.94	0.65067|0.65067	.|.	.|0.134422	.|0.51477	.|D	.|0.000094	T|T	0.49795|0.49795	0.1578|0.1578	L|L	0.29908|0.29908	0.895|0.895	0.34922|0.34922	D|D	0.748576|0.748576	.|P;P;P	.|0.47910	.|0.902;0.853;0.659	.|P;P;B	.|0.53450	.|0.726;0.502;0.312	T|T	0.53927|0.53927	-0.8369|-0.8369	5|9	.|0.25751	.|T	.|0.34	.|.	10.6245|10.6245	0.45500|0.45500	0.0:0.861:0.0:0.139|0.0:0.861:0.0:0.139	.|.	.|560;551;658	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	P|F	404|658;551;560	.|.	.|ENSP00000373978:L551F	A|L	-|-	1|3	0|2	TRAPPC9|TRAPPC9	141379838|141379838	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.305000|0.305000	0.19254|0.19254	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	GCT|TTG		0.438	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		G	141310656	C	G	141310656	3	3	51	1	0	0	0	0	1	0	0	0	16465	709	25	3	1818	3	TRAPPC9	8	141310656	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	89026135	141310656	5053366	37	2488											
CACNA1B	774	genome.wustl.edu	37	9	141006926	141006926	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr9:141006926G>T	ENST00000371372.1	+	40	5650	c.5505G>T	c.(5503-5505)aaG>aaT	p.K1835N	CACNA1B_ENST00000277549.5_Missense_Mutation_p.K1029N|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K1833N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.K1836N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.K1834N|CACNA1B_ENST00000371365.2_3'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.K1835N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1835					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCCCCAGAAGACTTTGGACT	0.572																																																0			9											83	89	87					9																	141006926		2000	4175	6175	140126747	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5505G>T	9.37:g.141006926G>T	ENSP00000360423:p.Lys1835Asn		140126747	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112708	0.56398	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.14	5.14	0.70334	.	0.105353	0.64402	D	0.000004	T	0.80813	0.4695	M	0.83852	2.665	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67900	0.937;0.954;0.937	D	0.83650	0.0155	10	0.87932	D	0	.	18.7993	0.92010	0.0:0.0:1.0:0.0	.	1835;1834;1833	Q00975;B1AQK7;B1AQK6	CAC1B_HUMAN;.;.	N	1835;1835;1029;1833;1834;1836	ENSP00000360423:K1835N;ENSP00000277551:K1835N;ENSP00000277549:K1029N;ENSP00000360414:K1833N;ENSP00000360408:K1834N;ENSP00000360406:K1836N	ENSP00000277549:K1029N	K	+	3	2	CACNA1B	140126747	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.674000	0.61612	2.664000	0.90586	0.655000	0.94253	AAG		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	141006926	G	T	141006926	3	4	51	1	0	0	0	0	1	0	0	0	2539	933	33	3	5659	3	CACNA1B	9	141006926	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09		141006926	206505	38	2489											
C10orf71	118461	genome.wustl.edu	37	10	50531957	50531957	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr10:50531957C>G	ENST00000374144.3	+	3	1655	c.1367C>G	c.(1366-1368)gCc>gGc	p.A456G	C10orf71_ENST00000323868.4_Missense_Mutation_p.A456G			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	456										endometrium(1)	1						AGCAAGCACGCCCTGGATTCA	0.532																																																0			10											57	60	59					10																	50531957		2076	4230	6306	50201963	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1367C>G	10.37:g.50531957C>G	ENSP00000363259:p.Ala456Gly		50201963	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	0.888	-0.726536	0.03158	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14144	2.53;3.65	5.3	-3.86	0.04230	.	2.021170	0.03124	N	0.164129	T	0.04770	0.0129	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25950	-1.0117	10	0.20046	T	0.44	.	1.2369	0.01955	0.2318:0.2064:0.09:0.4718	.	456	Q711Q0-3	.	G	456	ENSP00000318713:A456G;ENSP00000363259:A456G	ENSP00000318713:A456G	A	+	2	0	C10orf71	50201963	0.015000	0.18098	0.002000	0.10522	0.008000	0.06430	0.346000	0.19997	-1.068000	0.03156	0.650000	0.86243	GCC		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		G	50531957	C	G	50531957	3	3	51	1	0	0	0	0	1	0	0	0	1614	739	26	3	1369	3	C10orf71	10	50531957	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09		50531957	85002790	39	2490											
PDE6C	5146	genome.wustl.edu	37	10	95372912	95372912	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr10:95372912G>T	ENST00000371447.3	+	1	568	c.430G>T	c.(430-432)Ggt>Tgt	p.G144C		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	144	GAF 1.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TGGGATAGTGGGTTGGGCTGC	0.532																																																0			10											57	58	58					10																	95372912		2203	4299	6502	95362902	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.430G>T	10.37:g.95372912G>T	ENSP00000360502:p.Gly144Cys		95362902	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946333	0.73672	.	.	ENSG00000095464	ENST00000371447	T	0.77358	-1.09	5.55	4.65	0.58169	GAF (2);	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93445	0.6797	10	0.87932	D	0	.	14.6425	0.68737	0.0694:0.0:0.9306:0.0	.	144	P51160	PDE6C_HUMAN	C	144	ENSP00000360502:G144C	ENSP00000360502:G144C	G	+	1	0	PDE6C	95362902	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.652000	0.98499	1.584000	0.49913	0.655000	0.94253	GGT		0.532	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		T	95372912	G	T	95372912	3	4	51	1	0	0	0	0	1	0	0	0	11647	1232	43	3	432	3	PDE6C	10	95372912	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	44840955	95372912	40161835	40	2491											
DEPDC7	91614	genome.wustl.edu	37	11	33050193	33050193	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:33050193C>G	ENST00000241051.3	+	4	729	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	DEPDC7_ENST00000311388.3_Missense_Mutation_p.Q204E	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	213					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						GCGTCTACTACAACTTGTAGA	0.398																																																0			11											96	89	91					11																	33050193		1882	4117	5999	33006769	SO:0001583	missense	91614				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.637C>G	11.37:g.33050193C>G	ENSP00000241051:p.Gln213Glu		33006769	G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144258	0.57044	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.15718	2.4;2.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.81341	2.54	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.70716	0.94;0.97	T	0.37502	-0.9703	10	0.59425	D	0.04	-6.7174	20.6593	0.99626	0.0:1.0:0.0:0.0	.	204;213	G5E941;Q96QD5	.;DEPD7_HUMAN	E	213;204	ENSP00000241051:Q213E;ENSP00000308971:Q204E	ENSP00000241051:Q213E	Q	+	1	0	DEPDC7	33006769	1.000000	0.71417	0.646000	0.29493	0.078000	0.17371	7.103000	0.77014	2.885000	0.99019	0.655000	0.94253	CAA		0.398	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		G	33050193	C	G	33050193	3	3	51	1	0	0	0	0	1	0	0	0	4444	479	17	3	701	3	DEPDC7	11	33050193	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09		33050193	101956323	41	2492											
TCP11L1	55346	genome.wustl.edu	37	11	33094196	33094196	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:33094196C>A	ENST00000334274.4	+	10	1904	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	TCP11L1_ENST00000324357.9_Missense_Mutation_p.L281M|TCP11L1_ENST00000531632.2_Missense_Mutation_p.L502M|TCP11L1_ENST00000432887.1_Missense_Mutation_p.L502M	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	502						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CGATGCAATCCTGAGTAAGAT	0.453																																																0			11											190	169	176					11																	33094196		2202	4298	6500	33050772	SO:0001583	missense	55346			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.1504C>A	11.37:g.33094196C>A	ENSP00000335595:p.Leu502Met		33050772	D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	CCDS7882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.471245|3.471245	0.63625|0.63625	.|.	.|.	ENSG00000176148|ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357|ENST00000528962	T;T;T;T|.	0.16597|.	2.33;2.33;2.33;2.33|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83128|0.83128	0.5187|0.5187	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.84365|0.84365	0.0540|0.0540	10|5	0.59425|.	D|.	0.04|.	-15.7276|-15.7276	19.3923|19.3923	0.94587|0.94587	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	502|.	Q9NUJ3|.	T11L1_HUMAN|.	M|H	502;502;502;281|117	ENSP00000335595:L502M;ENSP00000433067:L502M;ENSP00000395070:L502M;ENSP00000316279:L281M|.	ENSP00000316279:L281M|.	L|P	+|+	1|2	2|0	TCP11L1|TCP11L1	33050772|33050772	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.535000|0.535000	0.34838|0.34838	4.493000|4.493000	0.60341|0.60341	2.582000|2.582000	0.87167|0.87167	0.313000|0.313000	0.20887|0.20887	CTG|CCT		0.453	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		A	33094196	C	A	33094196	3	1	51	1	0	0	0	0	1	0	0	0	15714	680	24	3	1538	3	TCP11L1	11	33094196	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	44003	33094196	101912320	42	2493											
PPP2R1B	5519	genome.wustl.edu	37	11	111618723	111618723	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:111618723C>G	ENST00000527614.1	-	11	1419	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H	PPP2R1B_ENST00000427203.2_Missense_Mutation_p.D291H|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.D388H|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.D325H|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.D452H|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.D407H	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	452					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGCTTTTCATCAAAGAATTCC	0.348																																																0			11											110	99	103					11																	111618723		2201	4296	6497	111123933	SO:0001583	missense	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1354G>C	11.37:g.111618723C>G	ENSP00000437193:p.Asp452His		111123933	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749839	0.69533	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.32272	2.22;2.22;2.22;2.22;1.46;2.22	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.044662	0.85682	D	0.000000	T	0.55130	0.1901	M	0.87900	2.915	0.80722	D	1	P;B;B;P;B;B	0.43857	0.585;0.142;0.127;0.819;0.424;0.358	P;B;B;P;B;B	0.51550	0.487;0.25;0.107;0.673;0.131;0.179	T	0.60727	-0.7206	10	0.87932	D	0	-22.5378	17.7493	0.88429	0.0:1.0:0.0:0.0	.	325;407;291;388;452;452	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	H	452;325;388;452;291;407;325	ENSP00000311344:D452H;ENSP00000410671:D388H;ENSP00000437193:D452H;ENSP00000415759:D291H;ENSP00000343317:D407H;ENSP00000376775:D325H	ENSP00000311344:D452H	D	-	1	0	PPP2R1B	111123933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.185000	0.77714	2.861000	0.98227	0.655000	0.94253	GAT		0.348	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		G	111618723	C	G	111618723	3	3	51	1	0	0	0	0	1	0	0	0	12386	826	29	3	694	3	PPP2R1B	11	111618723	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	78524527	111618723	23387793	43	2494											
OR10S1	219873	genome.wustl.edu	37	11	123848349	123848349	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:123848349G>C	ENST00000531945.1	-	1	139	c.50C>G	c.(49-51)cCc>cGc	p.P17R		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTCTGGTTGGGGTTCTCCGT	0.478																																																0			11											82	82	82					11																	123848349		2202	4299	6501	123353559	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.50C>G	11.37:g.123848349G>C	ENSP00000431914:p.Pro17Arg		123353559	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	0.408	-0.915006	0.02415	.	.	ENSG00000196248	ENST00000531945	T	0.00249	8.44	4.75	3.76	0.43208	.	1.137800	0.06852	U	0.797515	T	0.00073	0.0002	N	0.02721	-0.515	0.19300	N	0.999975	B	0.29716	0.255	B	0.30782	0.12	T	0.01819	-1.1267	10	0.09590	T	0.72	-7.7192	5.3031	0.15790	0.3045:0.0:0.6955:0.0	.	17	Q8NGN2	O10S1_HUMAN	R	17	ENSP00000431914:P17R	ENSP00000431914:P17R	P	-	2	0	OR10S1	123353559	.	.	0.729000	0.30791	0.136000	0.21042	.	.	1.067000	0.40740	0.644000	0.83932	CCC		0.478	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		C	123848349	G	C	123848349	3	2	51	1	0	0	0	0	1	0	0	0	10918	1232	43	3	949	3	OR10S1	11	123848349	Missense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09	12229626	123848349	11158167	44	2495											
ADAMTS8	11095	genome.wustl.edu	37	11	130275533	130275533	+	Missense_Mutation	SNP	C	C	T	rs61753089	byFrequency	TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:130275533C>T	ENST00000257359.6	-	9	3296	c.2590G>A	c.(2590-2592)Ggc>Agc	p.G864S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	864	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GAGGCCTGGCCGGAGGGGTCC	0.672													C|||	15	0.00299521	0	0.0072	5008	,	,		17156	0		0.008	False		,,,				2504	0.002															0			11						C	SER/GLY	10,3942		0,10,1966	49	57	55		2590	4.4	0.8	11	dbSNP_129	55	56,8250		0,56,4097	yes	missense	ADAMTS8	NM_007037.4	56	0,66,6063	TT,TC,CC		0.6742,0.253,0.5384	probably-damaging	864/890	130275533	66,12192	1976	4153	6129	129780743	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2590G>A	11.37:g.130275533C>T	ENSP00000257359:p.Gly864Ser		129780743	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	7	0.003205128205128205	0	0.0	3	0.008287292817679558	0	0.0	4	0.005277044854881266	C	18.86	3.714106	0.68730	0.00253	0.006742	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.50001	0.76	5.35	4.42	0.53409	.	0.048013	0.85682	N	0.000000	T	0.57359	0.2048	M	0.79475	2.455	0.80722	D	1	B;D	0.89917	0.094;1.0	B;D	0.91635	0.053;0.999	T	0.63834	-0.6547	10	0.09084	T	0.74	.	14.2876	0.66256	0.0:0.9272:0.0:0.0728	rs61753089	864;345	Q9UP79;B3KVX9	ATS8_HUMAN;.	S	262;864;893	ENSP00000257359:G864S	ENSP00000257359:G864S	G	-	1	0	ADAMTS8	129780743	1.000000	0.71417	0.828000	0.32881	0.891000	0.51852	5.750000	0.68712	1.228000	0.43614	0.591000	0.81541	GGC		0.672	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		T	130275533	C	T	130275533	3	4	51	1	0	0	0	0	1	0	0	0	272	652	23	1	83	1	ADAMTS8	11	130275533	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	6427184	130275533	4730983	45	2496											
PIK3C2G	5288	genome.wustl.edu	37	12	18499756	18499756	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr12:18499756A>C	ENST00000266497.5	+	10	1649	c.1611A>C	c.(1609-1611)gaA>gaC	p.E537D	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E537D|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E537D|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.E537D			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	537	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACATTCCAGAAACCTGGGTGC	0.423																																																0			12											49	46	47					12																	18499756		1921	4124	6045	18391023	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1611A>C	12.37:g.18499756A>C	ENSP00000266497:p.Glu537Asp		18391023	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845403	0.32606	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.76709	1.45;-1.04;-1.04;-0.41	4.25	-1.08	0.09936	Phosphoinositide 3-kinase, C2 (2);	11.940400	0.00166	N	0.000000	D	0.84192	0.5418	M	0.67953	2.075	0.23016	N	0.998428	D;D;D	0.69078	0.995;0.997;0.997	P;D;D	0.66602	0.813;0.909;0.945	T	0.68168	-0.5480	10	0.13470	T	0.59	-18.3114	9.0527	0.36385	0.6487:0.0:0.3513:0.0	.	536;537;537	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	D	537	ENSP00000443850:E537D;ENSP00000404845:E537D;ENSP00000266497:E537D;ENSP00000445381:E537D	ENSP00000266497:E537D	E	+	3	2	PIK3C2G	18391023	0.804000	0.28969	0.104000	0.21259	0.711000	0.40976	0.829000	0.27449	-0.201000	0.10284	-0.375000	0.07067	GAA		0.423	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		C	18499756	A	C	18499756	3	2	51	1	0	0	0	0	1	0	0	0	11911	11	1	5	1649	5	PIK3C2G	12	18499756	Missense_Mutation	SNP	A	TCGA-09-1675-01B-01W-0633-09		18499756	115352139	46	2497											
TMEM132B	114795	genome.wustl.edu	37	12	125834811	125834811	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr12:125834811A>T	ENST00000299308.3	+	2	874	c.866A>T	c.(865-867)aAt>aTt	p.N289I		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	289						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTACCTCTGAATCTAGTCCGG	0.547																																																0			12											206	197	200					12																	125834811		1977	4147	6124	124400764	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.866A>T	12.37:g.125834811A>T	ENSP00000299308:p.Asn289Ile		124400764	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.413792	0.62511	.	.	ENSG00000139364	ENST00000299308	T	0.12672	2.66	5.34	4.21	0.49690	.	.	.	.	.	T	0.10078	0.0247	L	0.39898	1.24	0.80722	D	1	B	0.24920	0.114	B	0.20955	0.032	T	0.15549	-1.0433	9	0.37606	T	0.19	.	4.3751	0.11267	0.7111:0.0:0.2889:0.0	.	289	Q14DG7	T132B_HUMAN	I	289	ENSP00000299308:N289I	ENSP00000299308:N289I	N	+	2	0	TMEM132B	124400764	0.999000	0.42202	1.000000	0.80357	0.862000	0.49288	1.469000	0.35343	2.014000	0.59158	0.533000	0.62120	AAT		0.547	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	125834811	A	T	125834811	3	4	51	1	0	0	0	0	1	0	0	0	16046	101	4	5	872	5	TMEM132B	12	125834811	Missense_Mutation	SNP	A	TCGA-09-1675-01B-01W-0633-09	107335055	125834811	8017084	47	2498											
RIMBP2	23504	genome.wustl.edu	37	12	130926717	130926717	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr12:130926717A>T	ENST00000261655.4	-	8	1292	c.1129T>A	c.(1129-1131)Tcg>Acg	p.S377T	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S285T|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S285T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	377	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCTCATCCGAGCTGCCCCTG	0.642																																																0			12											116	108	111					12																	130926717		2203	4300	6503	129492670	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1129T>A	12.37:g.130926717A>T	ENSP00000261655:p.Ser377Thr		129492670	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	a	15.81	2.942868	0.53079	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.58506	0.33;0.33;0.33	4.23	4.23	0.50019	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	M	0.86178	2.8	0.52501	D	0.999955	D;D;D	0.89917	0.993;1.0;0.982	P;D;D	0.75484	0.714;0.986;0.952	T	0.81125	-0.1075	10	0.66056	D	0.02	-15.1802	13.3303	0.60483	1.0:0.0:0.0:0.0	.	285;285;377	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	T	377;285;285;285	ENSP00000261655:S377T;ENSP00000440347:S285T;ENSP00000439159:S285T	ENSP00000261655:S377T	S	-	1	0	RIMBP2	129492670	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	7.252000	0.78309	1.522000	0.49001	0.439000	0.28862	TCG		0.642	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130926717	A	T	130926717	3	4	51	1	0	0	0	0	1	0	0	0	13366	304	11	5	2077	5	RIMBP2	12	130926717	Missense_Mutation	SNP	A	TCGA-09-1675-01B-01W-0633-09	5091906	130926717	2925178	48	2499											
GOLGA3	2802	genome.wustl.edu	37	12	133398612	133398612	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr12:133398612C>A	ENST00000450791.2	-	1	286	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	GOLGA3_ENST00000456883.2_Missense_Mutation_p.V35L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.V35L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.V35L|GOLGA3_ENST00000204726.3_Missense_Mutation_p.V35L			Q08378	GOGA3_HUMAN	golgin A3	35	Pro-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCAGGTGGCACCAGTGGGCCC	0.647																																																0			12											64	63	63					12																	133398612		2203	4300	6503	131908685	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.103G>T	12.37:g.133398612C>A	ENSP00000410378:p.Val35Leu		131908685	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364178	0.24684	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29917	1.98;1.98;1.98;1.55;1.55	4.85	-0.619	0.11572	.	0.779066	0.11019	N	0.608630	T	0.17066	0.0410	N	0.22421	0.69	0.09310	N	1	B;B;B	0.21606	0.058;0.034;0.034	B;B;B	0.22601	0.04;0.04;0.04	T	0.25047	-1.0143	10	0.33940	T	0.23	.	4.7173	0.12901	0.1475:0.4829:0.0:0.3696	.	35;35;35	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	L	35	ENSP00000204726:V35L;ENSP00000410378:V35L;ENSP00000409303:V35L;ENSP00000442143:V35L;ENSP00000442603:V35L	ENSP00000204726:V35L	V	-	1	0	GOLGA3	131908685	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.371000	0.20450	-0.005000	0.14395	0.561000	0.74099	GTG		0.647	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		A	133398612	C	A	133398612	3	1	51	1	0	0	0	0	1	0	0	0	6554	507	18	3	4623	3	GOLGA3	12	133398612	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	2471895	133398612	453283	49	2500											
ENOX1	55068	genome.wustl.edu	37	13	43788228	43788228	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr13:43788228C>A	ENST00000261488.6	-	17	2407	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	ENOX1_ENST00000412891.1_Missense_Mutation_p.L610F	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	610					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCAGCCTCATCAAAAGCATTT	0.433																																																0			13											95	91	92					13																	43788228		2203	4300	6503	42686228	SO:0001583	missense	55068			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1830G>T	13.37:g.43788228C>A	ENSP00000261488:p.Leu610Phe		42686228	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	.	19.47	3.833418	0.71258	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.59772	0.24;0.24	6.16	6.16	0.99307	.	0.065353	0.64402	D	0.000010	T	0.64091	0.2567	L	0.55481	1.735	0.80722	D	1	D	0.54207	0.965	P	0.51016	0.656	T	0.63703	-0.6577	10	0.52906	T	0.07	-16.633	15.9288	0.79644	0.0:0.9342:0.0:0.0658	.	610	Q8TC92	ENOX1_HUMAN	F	610	ENSP00000261488:L610F;ENSP00000415054:L610F	ENSP00000261488:L610F	L	-	3	2	ENOX1	42686228	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.127000	0.64727	2.937000	0.99478	0.650000	0.86243	TTG		0.433	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		A	43788228	C	A	43788228	3	1	51	1	0	0	0	0	1	0	0	0	5126	825	29	3	105	3	ENOX1	13	43788228	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09		43788228	71381650	50	2501											
WARS	7453	genome.wustl.edu	37	14	100801271	100801271	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr14:100801271T>C	ENST00000355338.2	-	11	1975	c.1357A>G	c.(1357-1359)Acg>Gcg	p.T453A	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.T412A|WARS_ENST00000392882.2_Missense_Mutation_p.T453A|WARS_ENST00000358655.4_Missense_Mutation_p.T412A|WARS_ENST00000557135.1_Missense_Mutation_p.T453A|WARS_ENST00000344102.5_Missense_Mutation_p.T412A	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	453					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	ATCTCATCCGTGACCTCCTTG	0.512																																																0			14											141	117	125					14																	100801271		2203	4300	6503	99871024	SO:0001583	missense	7453			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1357A>G	14.37:g.100801271T>C	ENSP00000347495:p.Thr453Ala		99871024	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955321	0.73902	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	H	0.94698	3.57	0.80722	D	1	B	0.30326	0.276	B	0.34452	0.183	T	0.83074	-0.0141	10	0.56958	D	0.05	-0.4795	15.4012	0.74843	0.0:0.0:0.0:1.0	.	453	P23381	SYWC_HUMAN	A	453;412;453;412;453;412	ENSP00000376620:T453A;ENSP00000351481:T412A;ENSP00000347495:T453A;ENSP00000339485:T412A;ENSP00000451460:T453A;ENSP00000451887:T412A	ENSP00000339485:T412A	T	-	1	0	WARS	99871024	1.000000	0.71417	0.996000	0.52242	0.563000	0.35712	7.903000	0.87398	2.101000	0.63845	0.482000	0.46254	ACG		0.512	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		C	100801271	T	C	100801271	3	2	51	1	0	0	0	0	1	0	0	0	17249	1696	59	4	62	4	WARS	14	100801271	Missense_Mutation	SNP	T	TCGA-09-1675-01B-01W-0633-09		100801271	6548269	51	2502											
ZFP106	64397	genome.wustl.edu	37	15	42737062	42737062	+	Missense_Mutation	SNP	T	T	G	rs144125806		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr15:42737062T>G	ENST00000263805.4	-	5	3580	c.3254A>C	c.(3253-3255)tAt>tCt	p.Y1085S	ZNF106_ENST00000565380.1_Missense_Mutation_p.Y313S|ZNF106_ENST00000565611.1_Missense_Mutation_p.Y270S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1085					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AACTTCCACATAAGCTGTCTG	0.433																																																0			15											127	118	121					15																	42737062		2203	4299	6502	40524354	SO:0001583	missense	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3254A>C	15.37:g.42737062T>G	ENSP00000263805:p.Tyr1085Ser		40524354	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232347	0.79688	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	D	0.82167	-1.58	5.12	3.92	0.45320	.	0.068023	0.64402	D	0.000009	D	0.88171	0.6365	L	0.59436	1.845	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.999	D;P;D	0.85130	0.997;0.881;0.991	D	0.88962	0.3394	10	0.87932	D	0	-16.3766	11.7327	0.51746	0.1318:0.0:0.0:0.8682	.	313;1085;313	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	S	1085;313	ENSP00000263805:Y1085S	ENSP00000263805:Y1085S	Y	-	2	0	ZFP106	40524354	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.610000	0.61155	2.055000	0.61198	0.528000	0.53228	TAT		0.433	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		G	42737062	T	G	42737062	3	3	51	1	0	0	0	0	1	0	0	0	17637	1406	49	5	2457	5	ZFP106	15	42737062	Missense_Mutation	SNP	T	TCGA-09-1675-01B-01W-0633-09		42737062	59794330	52	2503											
PPIB	5479	genome.wustl.edu	37	15	64449052	64449052	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr15:64449052C>A	ENST00000300026.3	-	4	618	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	SNX22_ENST00000325881.4_3'UTR|PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	134	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CAGCCAGGCCCGTAGTGCTTC	0.562																																					GBM(105;399 1481 32889 33051 36637)											0			15											138	118	125					15																	64449052		2203	4300	6503	62236105	SO:0001583	missense	5479				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.400G>T	15.37:g.64449052C>A	ENSP00000300026:p.Gly134Trp		62236105	A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	ENST00000300026.3	37	CCDS10191.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027047	0.93518	.	.	ENSG00000166794	ENST00000300026	T	0.22945	1.93	5.92	5.92	0.95590	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.046382	0.85682	D	0.000000	T	0.64832	0.2634	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73151	-0.4073	10	0.87932	D	0	.	19.9192	0.97079	0.0:1.0:0.0:0.0	.	134	P23284	PPIB_HUMAN	W	134	ENSP00000300026:G134W	ENSP00000300026:G134W	G	-	1	0	PPIB	62236105	1.000000	0.71417	0.968000	0.41197	0.969000	0.65631	7.352000	0.79404	2.811000	0.96726	0.555000	0.69702	GGG		0.562	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			A	64449052	C	A	64449052	3	1	51	1	0	0	0	0	1	0	0	0	12322	652	23	3	258	3	PPIB	15	64449052	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	21711990	64449052	38082340	53	2504											
SETD1A	9739	genome.wustl.edu	37	16	30982881	30982881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr16:30982881G>T	ENST00000262519.8	+	13	3885	c.3199G>T	c.(3199-3201)Gaa>Taa	p.E1067*		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1067					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGATGAAGAGGAAGAGGAGCG	0.632																																																0			16											32	36	35					16																	30982881		2197	4300	6497	30890382	SO:0001587	stop_gained	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3199G>T	16.37:g.30982881G>T	ENSP00000262519:p.Glu1067*		30890382	A6NP62|Q6PIF3|Q8TAJ6	Nonsense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	47	13.757935	0.99761	.	.	ENSG00000099381	ENST00000262519	.	.	.	5.81	5.81	0.92471	.	0.358981	0.28946	N	0.013621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.8511	0.92230	0.0:0.0:1.0:0.0	.	.	.	.	X	1067	.	ENSP00000262519:E1067X	E	+	1	0	SETD1A	30890382	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.087000	0.71362	2.752000	0.94435	0.467000	0.42956	GAA		0.632	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		T	30982881	G	T	30982881	4	4	51	1	0	0	0	0	0	1	0	0	14133	1175	41	3	3245	3	SETD1A	16	30982881	Nonsense_Mutation	SNP	G	TCGA-09-1675-01B-01W-0633-09		30982881	59371872	54	2505											
TP53	7157	genome.wustl.edu	37	17	7578395	7578400	+	In_Frame_Del	DEL	GGTGGG	GGTGGG	-	rs587780070		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	GGTGGG	GGTGGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr17:7578395_7578400delGGTGGG	ENST00000269305.4	-	5	719_724	c.530_535delCCCACC	c.(529-537)ccccaccat>cat	p.PH177del	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Del_p.PH177del|TP53_ENST00000420246.2_In_Frame_Del_p.PH177del|TP53_ENST00000445888.2_In_Frame_Del_p.PH177del|TP53_ENST00000359597.4_In_Frame_Del_p.PH177del|TP53_ENST00000455263.2_In_Frame_Del_p.PH177del	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.P177R(18)|p.P177L(17)|p.H179N(16)|p.H178fs*69(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.H178Q(5)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177I(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.H85_S90delHHERCS(1)|p.P45R(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAGCGCCT	0.641		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"	312	Substitution - Missense(216)|Deletion - Frameshift(40)|Deletion - In frame(27)|Substitution - coding silent(12)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)|Complex - compound substitution(1)	large_intestine(44)|skin(42)|upper_aerodigestive_tract(34)|lung(31)|breast(28)|haematopoietic_and_lymphoid_tissue(20)|ovary(19)|central_nervous_system(16)|stomach(15)|oesophagus(14)|liver(10)|endometrium(7)|bone(6)|urinary_tract(5)|pancreas(5)|prostate(4)|vulva(2)|genital_tract(2)|soft_tissue(2)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|biliary_tract(1)|thymus(1)	17	GRCh37	CD983489|CM067054	TP53	D|M	rs68130327																																			7519125	SO:0001651	inframe_deletion	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.530_535delCCCACC	17.37:g.7578395_7578400delGGTGGG	ENSP00000269305:p.Pro177_His178del		7519120	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	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.641	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578400	GGTGGG	-	7578395	7	5	51	1	0	1	0	1	0	0	0	0	16381	1348	47	0	763	0	TP53	17	7578395	In_Frame_Del	DEL	GGTGGG	TCGA-09-1675-01B-01W-0633-09		7578395	73616815	55	2506											
DNAH9	1770	genome.wustl.edu	37	17	11835360	11835360	+	Silent	SNP	G	G	A	rs374717515		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr17:11835360G>A	ENST00000262442.4	+	64	12203	c.12135G>A	c.(12133-12135)acG>acA	p.T4045T	DNAH9_ENST00000608377.1_Silent_p.T357T|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.T3969T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4045	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCGGGAGACGGAGTTTAAGA	0.493																																																0			17						G	,	0,4406		0,0,2203	342	317	325		12135,1071	-9.9	0	17		325	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DNAH9	NM_001372.3,NM_004662.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	4045/4487,357/799	11835360	1,13005	2203	4300	6503	11776085	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12135G>A	17.37:g.11835360G>A			11776085	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11835360	G	A	11835360	2	1	51	1	0	0	0	0	0	0	0	1	4608	1103	39	1		1	DNAH9	17	11835360	Silent	SNP	G	TCGA-09-1675-01B-01W-0633-09	4256965	11835360	69359850	56	2507											
FOXK2	3607	genome.wustl.edu	37	17	80521410	80521410	+	Silent	SNP	C	C	A	rs201972160	byFrequency	TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr17:80521410C>A	ENST00000335255.5	+	2	774	c.600C>A	c.(598-600)ccC>ccA	p.P200P		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	200					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGCCCTCCCCCACGGGAACCA	0.612													C|||	2	0.000399361	0	0.0029	5008	,	,		16126	0		0	False		,,,				2504	0															0			17											98	62	74					17																	80521410		2203	4300	6503	78114699	SO:0001819	synonymous_variant	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.600C>A	17.37:g.80521410C>A			78114699	A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	ENST00000335255.5	37	CCDS11813.1																																																																																				0.612	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		A	80521410	C	A	80521410	2	1	51	1	0	0	0	0	0	0	0	1	6015	581	21	3		3	FOXK2	17	80521410	Silent	SNP	C	TCGA-09-1675-01B-01W-0633-09	68686050	80521410	673800	57	2508											
EPOR	2057	genome.wustl.edu	37	19	11489031	11489060	+	In_Frame_Del	DEL	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA	-	rs281860299|rs199645071|rs35423344|rs192441411	byFrequency	TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr19:11489031_11489060delGGAGGTCCTCACTGGGCGGGTTCCGGGGCA	ENST00000222139.6	-	8	1231_1260	c.1127_1156delTGCCCCGGAACCCGCCCAGTGAGGACCTCC	c.(1126-1158)ctgccccggaacccgcccagtgaggacctccca>cca	p.LPRNPPSEDL376del	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	376					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CCAGGCCCTGGGAGGTCCTCACTGGGCGGGTTCCGGGGCAGCAACCATTT	0.63											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19																																								11350060	SO:0001651	inframe_deletion	2057			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1127_1156delTGCCCCGGAACCCGCCCAGTGAGGACCTCC	19.37:g.11489031_11489060delGGAGGTCCTCACTGGGCGGGTTCCGGGGCA	ENSP00000222139:p.Leu376_Leu385del	672	11350031	B2RCG4|Q15443|Q2M205	In_Frame_Del	DEL	ENST00000222139.6	37	CCDS12260.1																																																																																				0.63	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			-	11489060	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA	-	11489031	7	5	51	1	0	1	0	1	0	0	0	0	5189	1232	43	0	374	0	EPOR	19	11489031	In_Frame_Del	DEL	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA	TCGA-09-1675-01B-01W-0633-09		11489031	47639952	58	2509											
PROKR2	128674	genome.wustl.edu	37	20	5282804	5282804	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr20:5282804T>A	ENST00000217270.3	-	2	1036	c.1037A>T	c.(1036-1038)aAg>aTg	p.K346M	PROKR2_ENST00000546004.1_Missense_Mutation_p.K346M	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	346					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGCATCATCTTCTTGAAGTA	0.562										HNSCC(71;0.22)																																						0			20											243	194	211					20																	5282804		2203	4300	6503	5230804	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1037A>T	20.37:g.5282804T>A	ENSP00000217270:p.Lys346Met		5230804	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544369	0.45280	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.43294	0.95;0.95	5.05	1.5	0.22942	.	0.147726	0.64402	D	0.000011	T	0.39384	0.1076	M	0.70595	2.14	0.50171	D	0.999856	P	0.42692	0.787	B	0.39971	0.315	T	0.21177	-1.0253	10	0.66056	D	0.02	.	7.8306	0.29340	0.0:0.257:0.0:0.743	.	346	Q8NFJ6	PKR2_HUMAN	M	346	ENSP00000440790:K346M;ENSP00000217270:K346M	ENSP00000217270:K346M	K	-	2	0	PROKR2	5230804	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.888000	0.39708	-0.004000	0.14419	0.533000	0.62120	AAG		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		A	5282804	T	A	5282804	3	1	51	1	0	0	0	0	1	0	0	0	12556	1609	56	5	120	5	PROKR2	20	5282804	Missense_Mutation	SNP	T	TCGA-09-1675-01B-01W-0633-09		5282804	57742716	59	2510											
ADNP	23394	genome.wustl.edu	37	20	49509938	49509938	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr20:49509938C>A	ENST00000396029.3	-	5	1880	c.1313G>T	c.(1312-1314)gGt>gTt	p.G438V	ADNP_ENST00000396032.3_Missense_Mutation_p.G438V|ADNP_ENST00000349014.3_Missense_Mutation_p.G438V|ADNP_ENST00000371602.4_Missense_Mutation_p.G438V	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	438					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGAAGTGTTACCTGGGGGAGG	0.458																																																0			20											104	109	107					20																	49509938		2203	4300	6503	48943345	SO:0001583	missense	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1313G>T	20.37:g.49509938C>A	ENSP00000379346:p.Gly438Val		48943345	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	0.199	-1.046014	0.01997	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	0.214	0.15249	.	0.920656	0.09491	N	0.794883	T	0.11537	0.0281	N	0.01168	-0.975	0.26630	N	0.972492	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	9	0.27785	T	0.31	-5.8613	4.4011	0.11386	0.172:0.4914:0.2241:0.1125	.	438	Q9H2P0	ADNP_HUMAN	V	438	.	ENSP00000342905:G438V	G	-	2	0	ADNP	48943345	0.759000	0.28416	0.005000	0.12908	0.574000	0.36063	1.564000	0.36375	-0.151000	0.11176	-0.171000	0.13296	GGT		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		A	49509938	C	A	49509938	3	1	51	1	0	0	0	0	1	0	0	0	323	507	18	3	1999	3	ADNP	20	49509938	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	44227134	49509938	13515582	60	2511											
RIMBP3	85376	genome.wustl.edu	37	22	20458524	20458524	+	Silent	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr22:20458524C>A	ENST00000426804.1	-	1	3262	c.2778G>T	c.(2776-2778)ctG>ctT	p.L926L	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	926										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGTCTTCCTCCAGAGCTTCAT	0.582																																																0			22											47	55	52					22																	20458524		1932	4148	6080	18838524	SO:0001819	synonymous_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2778G>T	22.37:g.20458524C>A			18838524	Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	ENST00000426804.1	37	CCDS46665.1																																																																																				0.582	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		A	20458524	C	A	20458524	2	1	51	1	0	0	0	0	0	0	0	1	13367	581	21	3		3	RIMBP3	22	20458524	Silent	SNP	C	TCGA-09-1675-01B-01W-0633-09		20458524	30846042	61	2512											
VCX3B	425054	genome.wustl.edu	37	X	8434367	8434367	+	Silent	SNP	C	C	T	rs139169782		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chrX:8434367C>T	ENST00000381032.1	+	3	991	c.684C>T	c.(682-684)agC>agT	p.S228S	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Silent_p.S196S|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000444481.1_Silent_p.S198S	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	228	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GTCAGGAGAGCGAGATGGAAG	0.557													-|||	923	0.244503	0.0968	0.147	3775	,	,		6423	0.2887		0.1173	False		,,,				2504	0.2904															0			X						C		600,2579		158,223,61,977,402	108	222	187		684	-0.6	0	X	dbSNP_134	187	808,5694		89,402,228,1896,1500	no	coding-synonymous	VCX3B	NM_001001888.3		247,625,289,2873,1902	TT,TC,T,CC,C		12.4269,18.8739,14.544		228/247	8434367	1408,8273	1821	4115	5936	8394367	SO:0001819	synonymous_variant	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.684C>T	X.37:g.8434367C>T			8394367	C9JS46|Q4KN12	Silent	SNP	ENST00000381032.1	37	CCDS48077.2																																																																																				0.557	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			T	8434367	C	T	8434367	2	4	51	1	0	0	0	0	0	0	0	1	17145	767	27	1		1	VCX3B	23	8434367	Silent	SNP	C	TCGA-09-1675-01B-01W-0633-09		8434367	146836193	62	2513											
REPS2	9185	genome.wustl.edu	37	X	17088087	17088087	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chrX:17088087C>A	ENST00000357277.3	+	11	1475	c.1304C>A	c.(1303-1305)gCc>gAc	p.A435D	REPS2_ENST00000303843.7_Missense_Mutation_p.A434D|REPS2_ENST00000380064.4_Missense_Mutation_p.A295D	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	435					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					ATCAATGAAGCCTTACCAAAG	0.274																																																0			X											33	31	32					X																	17088087		2203	4294	6497	16998008	SO:0001583	missense	9185			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1304C>A	X.37:g.17088087C>A	ENSP00000349824:p.Ala435Asp		16998008	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	9.861	1.196177	0.22037	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.32988	1.43;1.43;1.49	5.35	3.61	0.41365	.	0.376195	0.25780	N	0.028346	T	0.24967	0.0606	L	0.51422	1.61	0.34154	D	0.667843	B;B;B	0.32245	0.047;0.355;0.361	B;B;B	0.33521	0.022;0.165;0.08	T	0.27400	-1.0075	10	0.22109	T	0.4	-1.7737	7.108	0.25374	0.0:0.797:0.0:0.203	.	295;434;435	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	D	435;435;434;295	ENSP00000349824:A435D;ENSP00000306033:A434D;ENSP00000369404:A295D	ENSP00000306033:A434D	A	+	2	0	REPS2	16998008	0.992000	0.36948	0.555000	0.28281	0.348000	0.29142	0.248000	0.18198	0.643000	0.30638	0.600000	0.82982	GCC		0.274	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		A	17088087	C	A	17088087	3	1	51	1	0	0	0	0	1	0	0	0	13232	739	26	3	1346	3	REPS2	23	17088087	Missense_Mutation	SNP	C	TCGA-09-1675-01B-01W-0633-09	8653720	17088087	138182473	63	2514											
NPPA	1185	broad.mit.edu	37	1	11906071	11906071	+	IGR	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr1:11906071A>G	ENST00000346436.6	+	0	5583				NPPA_ENST00000376480.3_Splice_Site_p.Y151H|NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Splice_Site_p.Y101H	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6						cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.Y151H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TATCTTCAGTACTGCAAAGAG	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											153	138	143					1																	11906071		2203	4300	6503	11828658	SO:0001628	intergenic_variant	4878			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299		1.37:g.11906071A>G			11828658	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106126	0.56291	.	.	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.51325	0.71	5.47	5.47	0.80525	.	0.266518	0.29002	N	0.013447	T	0.34803	0.0910	N	0.08118	0	0.35234	D	0.777219	D	0.56521	0.976	P	0.47744	0.556	T	0.54262	-0.8320	10	0.87932	D	0	-14.1255	11.9816	0.53123	1.0:0.0:0.0:0.0	.	151	P01160	ANF_HUMAN	H	151;101	ENSP00000365663:Y151H	ENSP00000365659:Y101H	Y	-	1	0	NPPA	11828658	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	4.239000	0.58694	2.078000	0.62432	0.528000	0.53228	TAC		0.517	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		G	11906071	A	G	11906071	1	3	52	0	1	0	0	0	0	0	0	0	10591	405	14	4		4	NPPA	1	11906071	IGR	SNP	A	TCGA-09-2044-01B-01W-0799-08		11906071	237344550	1	2515											
PADI3	51702	broad.mit.edu	37	1	17594343	17594343	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr1:17594343A>G	ENST00000375460.3	+	6	578	c.538A>G	c.(538-540)Atg>Gtg	p.M180V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	180					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.M180V(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCTGGAAGACATGTCTGTCAT	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											94	80	85					1																	17594343		2203	4300	6503	17466930	SO:0001583	missense	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.538A>G	1.37:g.17594343A>G	ENSP00000364609:p.Met180Val		17466930	Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	CCDS179.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723202	0.68959	.	.	ENSG00000142619	ENST00000375460	T	0.21191	2.02	5.42	5.42	0.78866	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.87097	2.86	0.51012	D	0.999909	P	0.48162	0.906	B	0.43950	0.437	T	0.46952	-0.9154	10	0.72032	D	0.01	-48.9008	14.277	0.66187	1.0:0.0:0.0:0.0	.	180	Q9ULW8	PADI3_HUMAN	V	180	ENSP00000364609:M180V	ENSP00000364609:M180V	M	+	1	0	PADI3	17466930	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	8.872000	0.92352	2.056000	0.61249	0.459000	0.35465	ATG		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			G	17594343	A	G	17594343	3	3	52	1	0	0	0	0	1	0	0	0	11379	217	8	4	560	4	PADI3	1	17594343	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08	5688272	17594343	231656278	2	2516											
HIST2H2AC	8338	broad.mit.edu	37	1	149858597	149858597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr1:149858597C>T	ENST00000331380.2	+	1	73	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	25						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q25*(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGCTGGCCTCCAGTTCCCGGT	0.647																																																1	Substitution - Nonsense(1)	ovary(1)	1											69	75	73					1																	149858597		2203	4299	6502	148125221	SO:0001587	stop_gained	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.73C>T	1.37:g.149858597C>T	ENSP00000332194:p.Gln25*		148125221	Q6DRA7|Q8IUE5	Nonsense_Mutation	SNP	ENST00000331380.2	37	CCDS937.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077244	0.94000	.	.	ENSG00000184260	ENST00000331380	.	.	.	5.81	5.81	0.92471	.	0.000000	0.42053	D	0.000761	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6409	0.91396	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000332194:Q25X	Q	+	1	0	HIST2H2AC	148125221	1.000000	0.71417	0.959000	0.39883	0.936000	0.57629	7.596000	0.82721	2.745000	0.94114	0.655000	0.94253	CAG		0.647	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		T	149858597	C	T	149858597	4	4	52	1	0	0	0	0	0	1	0	0	7178	595	21	2	75	2	HIST2H2AC	1	149858597	Nonsense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	132264254	149858597	99392024	3	2517											
PGLYRP4	57115	broad.mit.edu	37	1	153312924	153312924	+	Missense_Mutation	SNP	G	G	A	rs148300800	byFrequency	TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr1:153312924G>A	ENST00000359650.5	-	7	821	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249C	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.R253C(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCAGCAGGCGGCACTCATCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	1						G	CYS/ARG	0,4406		0,0,2203	99	95	97		757	3.6	0.5	1	dbSNP_134	97	4,8596	3.7+/-12.6	0,4,4296	yes	missense	PGLYRP4	NM_020393.2	180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	253/374	153312924	4,13002	2203	4300	6503	151579548	SO:0001583	missense	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.757C>T	1.37:g.153312924G>A	ENSP00000352672:p.Arg253Cys		151579548	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402783	0.42613	0.0	4.65E-4	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17370	2.28;2.28	3.64	3.64	0.41730	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.754962	0.11756	N	0.532586	T	0.21062	0.0507	L	0.45352	1.415	0.32927	D	0.516628	D;D	0.89917	1.0;1.0	D;D	0.75484	0.976;0.986	T	0.02098	-1.1214	10	0.56958	D	0.05	-24.8992	10.9823	0.47501	0.0:0.0:1.0:0.0	.	249;253	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	C	249;253	ENSP00000357728:R249C;ENSP00000352672:R253C	ENSP00000352672:R253C	R	-	1	0	PGLYRP4	151579548	0.404000	0.25328	0.492000	0.27490	0.456000	0.32438	0.562000	0.23531	1.988000	0.58038	0.655000	0.94253	CGC		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		A	153312924	G	A	153312924	3	1	52	1	0	0	0	0	1	0	0	0	11796	1116	39	1	376	1	PGLYRP4	1	153312924	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	3454327	153312924	95937697	4	2518											
RASAL2	9462	broad.mit.edu	37	1	178269208	178269208	+	Nonsense_Mutation	SNP	G	G	T	rs144830827		TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr1:178269208G>T	ENST00000367649.3	+	3	764	c.412G>T	c.(412-414)Gag>Tag	p.E138*	RASAL2_ENST00000448150.3_Nonsense_Mutation_p.E120*			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.E120*(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGTCCCTTCCGAGGGTCAGTT	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	ovary(1)	1											70	73	72					1																	178269208		2203	4300	6503	176535831	SO:0001587	stop_gained	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.412G>T	1.37:g.178269208G>T	ENSP00000356621:p.Glu138*	1945	176535831	F8W755|O95174|Q2TB22|Q5TFU9	Nonsense_Mutation	SNP	ENST00000367649.3	37	CCDS1321.2	.	.	.	.	.	.	.	.	.	.	G	37	6.263076	0.97421	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7722	0.91896	0.0:0.0:1.0:0.0	.	.	.	.	X	120;138	.	ENSP00000356621:E138X	E	+	1	0	RASAL2	176535831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.994000	0.76251	2.793000	0.96121	0.655000	0.94253	GAG		0.473	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		T	178269208	G	T	178269208	4	4	52	1	0	0	0	0	0	1	0	0	13067	1059	37	3	422	3	RASAL2	1	178269208	Nonsense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	24956284	178269208	70981413	5	2519											
KCNT2	343450	broad.mit.edu	37	1	196250056	196250056	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr1:196250056A>C	ENST00000294725.9	-	25	3759	c.2844T>G	c.(2842-2844)tgT>tgG	p.C948W	KCNT2_ENST00000367433.5_Missense_Mutation_p.C924W|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.C874W|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.C874W			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	948					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.C948W(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTAGAAGAACACAACTTCT	0.338																																																1	Substitution - Missense(1)	ovary(1)	1											97	99	98					1																	196250056		2203	4300	6503	194516679	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2844T>G	1.37:g.196250056A>C	ENSP00000294725:p.Cys948Trp		194516679	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128612	0.56721	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78595	-1.19;-1.19;-1.19	5.52	1.95	0.26073	.	0.000000	0.64402	D	0.000003	D	0.86920	0.6049	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.98;0.994;0.994;0.994;0.98	D	0.85101	0.0957	10	0.87932	D	0	-18.9829	8.2431	0.31671	0.6922:0.0:0.3078:0.0	.	948;906;924;874;948	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	W	924;874;948	ENSP00000356403:C924W;ENSP00000356401:C874W;ENSP00000294725:C948W	ENSP00000294725:C948W	C	-	3	2	KCNT2	194516679	0.982000	0.34865	0.999000	0.59377	0.997000	0.91878	0.387000	0.20718	0.141000	0.18875	0.455000	0.32223	TGT		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		C	196250056	A	C	196250056	3	2	52	1	0	0	0	0	1	0	0	0	8092	41	2	5	579	5	KCNT2	1	196250056	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08	17980848	196250056	53000565	6	2520											
CR2	1380	broad.mit.edu	37	1	207640107	207640107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr1:207640107G>T	ENST00000367058.3	+	2	484	c.295G>T	c.(295-297)Gga>Tga	p.G99*	CR2_ENST00000458541.2_Nonsense_Mutation_p.G99*|CR2_ENST00000367059.3_Nonsense_Mutation_p.G99*|CR2_ENST00000367057.3_Nonsense_Mutation_p.G99*	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.G99*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTACCAGGAGGATACAAAAT	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	1											96	94	95					1																	207640107		2203	4300	6503	205706730	SO:0001587	stop_gained	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.295G>T	1.37:g.207640107G>T	ENSP00000356025:p.Gly99*		205706730	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Nonsense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129907	0.37630	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	.	.	.	5.0	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	7.4734	0.27361	0.117:0.0:0.883:0.0	.	.	.	.	X	99	.	ENSP00000356024:G99X	G	+	1	0	CR2	205706730	0.570000	0.26651	0.867000	0.34043	0.013000	0.08279	2.467000	0.45093	2.607000	0.88179	0.655000	0.94253	GGA		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		T	207640107	G	T	207640107	4	4	52	1	0	0	0	0	0	1	0	0	3842	1001	35	3	301	3	CR2	1	207640107	Nonsense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	11390051	207640107	41610514	7	2521											
RYR2	6262	broad.mit.edu	37	1	237660038	237660038	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr1:237660038T>C	ENST00000366574.2	+	20	2506	c.2189T>C	c.(2188-2190)cTt>cCt	p.L730P	RYR2_ENST00000542537.1_Missense_Mutation_p.L714P|RYR2_ENST00000360064.6_Missense_Mutation_p.L728P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	730	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L728P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGATGGCCTTCATCTCTGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											157	162	160					1																	237660038		1965	4162	6127	235726661	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2189T>C	1.37:g.237660038T>C	ENSP00000355533:p.Leu730Pro		235726661	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311288	0.81358	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.70164	-0.46;-0.46;-0.46	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000028	D	0.83211	0.5205	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85242	0.1039	10	0.59425	D	0.04	.	16.2322	0.82352	0.0:0.0:0.0:1.0	.	730	Q92736	RYR2_HUMAN	P	730;728;714	ENSP00000355533:L730P;ENSP00000353174:L728P;ENSP00000443798:L714P	ENSP00000353174:L728P	L	+	2	0	RYR2	235726661	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.031000	0.88826	2.233000	0.73108	0.454000	0.30748	CTT		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237660038	T	C	237660038	3	2	52	1	0	0	0	0	1	0	0	0	13772	1609	56	4	2267	4	RYR2	1	237660038	Missense_Mutation	SNP	T	TCGA-09-2044-01B-01W-0799-08	30019931	237660038	11590583	8	2522											
VN1R5	317705	broad.mit.edu	37	1	247420019	247420019	+	IGR	SNP	G	G	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr1:247420019G>C								RP11-488L18.8 (14894 upstream) : Y_RNA (38117 downstream)																							ACAGGAGACTGTTTTTCACAC	0.463																																																0			1											250	234	239					1																	247420019		1905	4135	6040	245486642	SO:0001628	intergenic_variant	317705																															1.37:g.247420019G>C			245486642		Missense_Mutation	SNP		37																																																																																				0	0.463									C	247420019	G	C	247420019	1	2	52	0	1	0	0	0	0	0	0	0	17181	1377	48	3		3	VN1R5	1	247420019	IGR	SNP	G	TCGA-09-2044-01B-01W-0799-08	9759981	247420019	1830602	9	2523											
KIF3C	3797	broad.mit.edu	37	2	26203452	26203452	+	Silent	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr2:26203452G>T	ENST00000264712.3	-	1	1914	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P	KIF3C_ENST00000405914.1_Silent_p.P445P	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	445					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P445P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATGGGCTGGGGCGGGCGGT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	2											88	93	92					2																	26203452		2203	4300	6503	26056956	SO:0001819	synonymous_variant	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1335C>A	2.37:g.26203452G>T			26056956	O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	CCDS1719.1																																																																																				0.612	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			T	26203452	G	T	26203452	2	4	52	1	0	0	0	0	0	0	0	1	8302	1219	43	3		3	KIF3C	2	26203452	Silent	SNP	G	TCGA-09-2044-01B-01W-0799-08		26203452	216995921	10	2524											
IL18RAP	8807	broad.mit.edu	37	2	103053804	103053804	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr2:103053804G>T	ENST00000264260.2	+	6	1301	c.712G>T	c.(712-714)Gtt>Ttt	p.V238F	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V96F|AC007278.2_ENST00000436582.1_RNA|AC007278.3_ENST00000450893.1_RNA	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	238					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V238F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGAGCTGTTGTTCAAGTGAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											121	106	111					2																	103053804		2203	4300	6503	102420236	SO:0001583	missense	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.712G>T	2.37:g.103053804G>T	ENSP00000264260:p.Val238Phe		102420236	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580227	0.65992	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	D;D	0.85955	-2.05;-2.05	5.95	5.07	0.68467	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.093107	0.47093	D	0.000260	D	0.90352	0.6981	M	0.69823	2.125	0.44316	D	0.997193	D	0.89917	1.0	D	0.85130	0.997	D	0.88881	0.3339	10	0.32370	T	0.25	.	10.984	0.47513	0.0856:0.0:0.9144:0.0	.	238	O95256	I18RA_HUMAN	F	238;96	ENSP00000264260:V238F;ENSP00000387201:V96F	ENSP00000264260:V238F	V	+	1	0	IL18RAP	102420236	0.869000	0.29996	0.997000	0.53966	0.737000	0.42083	1.225000	0.32551	1.517000	0.48917	0.563000	0.77884	GTT		0.388	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		T	103053804	G	T	103053804	3	4	52	1	0	0	0	0	1	0	0	0	7648	1377	48	3	726	3	IL18RAP	2	103053804	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	76850352	103053804	140145569	11	2525											
BIN1	274	broad.mit.edu	37	2	127828167	127828167	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr2:127828167C>T	ENST00000316724.5	-	4	688	c.277G>A	c.(277-279)Gat>Aat	p.D93N	BIN1_ENST00000393040.3_Missense_Mutation_p.D93N|BIN1_ENST00000351659.3_Missense_Mutation_p.D93N|BIN1_ENST00000393041.3_Missense_Mutation_p.D93N|BIN1_ENST00000357970.3_Missense_Mutation_p.D93N|BIN1_ENST00000348750.4_Missense_Mutation_p.D93N|BIN1_ENST00000409400.1_Missense_Mutation_p.D93N|BIN1_ENST00000346226.3_Missense_Mutation_p.D93N|BIN1_ENST00000352848.3_Missense_Mutation_p.D93N|BIN1_ENST00000376113.2_Missense_Mutation_p.D93N|BIN1_ENST00000259238.4_Missense_Mutation_p.D93N	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	93	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with BIN2.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)	p.D93N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCGGGCCAATCGGGCTCATAC	0.602																																																1	Substitution - Missense(1)	ovary(1)	2											190	183	185					2																	127828167		2203	4300	6503	127544637	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.277G>A	2.37:g.127828167C>T	ENSP00000316779:p.Asp93Asn		127544637	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	.	19.70	3.876768	0.72180	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.28	4.28	0.50868	BAR (3);	0.259797	0.43919	D	0.000520	T	0.74913	0.3779	M	0.67700	2.07	0.58432	D	0.999999	D;B;B;P;B;B;P;P;B;P;B;B;B	0.60160	0.987;0.285;0.269;0.543;0.157;0.238;0.956;0.923;0.403;0.877;0.395;0.395;0.04	P;B;B;B;B;B;P;P;B;B;B;B;B	0.62560	0.904;0.178;0.174;0.158;0.082;0.042;0.771;0.453;0.112;0.394;0.155;0.044;0.041	T	0.78899	-0.2022	10	0.72032	D	0.01	-12.6344	15.6447	0.77039	0.0:1.0:0.0:0.0	.	93;69;93;93;93;93;93;93;93;93;93;93;93	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	N	93	ENSP00000365281:D93N;ENSP00000350654:D93N;ENSP00000376760:D93N;ENSP00000259237:D93N;ENSP00000259238:D93N;ENSP00000315411:D93N;ENSP00000376761:D93N;ENSP00000315388:D93N;ENSP00000315284:D93N;ENSP00000316779:D93N;ENSP00000386797:D93N	ENSP00000259238:D93N	D	-	1	0	BIN1	127544637	1.000000	0.71417	0.985000	0.45067	0.077000	0.17291	5.377000	0.66184	2.214000	0.71695	0.561000	0.74099	GAT		0.602	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		T	127828167	C	T	127828167	3	4	52	1	0	0	0	0	1	0	0	0	1432	884	31	1	1617	1	BIN1	2	127828167	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	24774363	127828167	115371206	12	2526											
MYO1B	4430	broad.mit.edu	37	2	192261220	192261220	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr2:192261220G>C	ENST00000392318.3	+	21	2539	c.2292G>C	c.(2290-2292)tgG>tgC	p.W764C	MYO1B_ENST00000304164.4_Missense_Mutation_p.W764C|MYO1B_ENST00000392316.1_Missense_Mutation_p.W764C|MYO1B_ENST00000439065.2_Missense_Mutation_p.W38C|MYO1B_ENST00000339514.4_Missense_Mutation_p.W764C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	764	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.W764C(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TCCGGGGTTGGAAGGTGAGTT	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											127	127	127					2																	192261220		2203	4300	6503	191969465	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2292G>C	2.37:g.192261220G>C	ENSP00000376132:p.Trp764Cys		191969465	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212714	0.79352	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.979;0.998;0.996	T	0.59268	-0.7486	10	0.62326	D	0.03	.	17.9441	0.89034	0.0:0.0:1.0:0.0	.	38;764;764	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	C	764;764;764;764;38	ENSP00000341903:W764C;ENSP00000376132:W764C;ENSP00000306382:W764C;ENSP00000376130:W764C;ENSP00000391442:W38C	ENSP00000306382:W764C	W	+	3	0	MYO1B	191969465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.034000	0.93747	2.667000	0.90743	0.655000	0.94253	TGG		0.418	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		C	192261220	G	C	192261220	3	2	52	1	0	0	0	0	1	0	0	0	10069	1183	41	3	2370	3	MYO1B	2	192261220	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	64433053	192261220	50938153	13	2527											
UGT1A10	54575	broad.mit.edu	37	2	234545823	234545823	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr2:234545823T>C	ENST00000344644.5	+	1	724	c.655T>C	c.(655-657)Ttt>Ctt	p.F219L	UGT1A10_ENST00000373445.1_Missense_Mutation_p.F219L|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	219					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.F219L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	GGACCATTTATTTTGCCAGTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											203	214	211					2																	234545823		2203	4300	6503	234210562	SO:0001583	missense	54575			U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.655T>C	2.37:g.234545823T>C	ENSP00000343838:p.Phe219Leu		234210562	O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.361341	0.00214	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.56275	0.47;0.47	3.52	-0.646	0.11472	.	.	.	.	.	T	0.19805	0.0476	N	0.02142	-0.665	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15052	0.003;0.012	T	0.25745	-1.0123	9	0.14252	T	0.57	.	4.799	0.13287	0.0:0.3919:0.1669:0.4412	.	219;219	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	L	219	ENSP00000343838:F219L;ENSP00000362544:F219L	ENSP00000343838:F219L	F	+	1	0	UGT1A10	234210562	0.000000	0.05858	0.118000	0.21660	0.067000	0.16453	-3.164000	0.00576	0.048000	0.15891	0.333000	0.21579	TTT		0.428	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		C	234545823	T	C	234545823	3	2	52	1	0	0	0	0	1	0	0	0	16945	1493	52	4	657	4	UGT1A10	2	234545823	Missense_Mutation	SNP	T	TCGA-09-2044-01B-01W-0799-08	42284603	234545823	8653550	14	2528											
SLC6A1	6529	broad.mit.edu	37	3	11059656	11059656	+	Silent	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr3:11059656C>T	ENST00000287766.4	+	4	787	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	122					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F122F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTCCTATGTTCAAGGGTAAGT	0.617																																																1	Substitution - coding silent(1)	ovary(1)	3											112	122	119					3																	11059656		2203	4300	6503	11034656	SO:0001819	synonymous_variant	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.366C>T	3.37:g.11059656C>T			11034656	Q8N4K8	Silent	SNP	ENST00000287766.4	37	CCDS2603.1																																																																																				0.617	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		T	11059656	C	T	11059656	2	4	52	1	0	0	0	0	0	0	0	1	14676	825	29	2		2	SLC6A1	3	11059656	Silent	SNP	C	TCGA-09-2044-01B-01W-0799-08		11059656	186962774	15	2529											
CTNNB1	1499	broad.mit.edu	37	3	41278077	41278077	+	Splice_Site	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr3:41278077A>G	ENST00000349496.5	+	13	2234		c.e13-1		CTNNB1_ENST00000453024.1_Splice_Site|CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000396185.3_Splice_Site	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa						adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E632_S681>SV(1)|p.?(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTTGTCTCTTAGCGACATATG	0.438		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	2	Unknown(1)|Complex - deletion inframe(1)	ovary(1)|kidney(1)	3											130	133	132					3																	41278077		2203	4300	6503	41253081	SO:0001630	splice_region_variant	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1955-1A>G	3.37:g.41278077A>G			41253081	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Splice_Site	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692297	0.30052	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.958	0.79902	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNB1	41253081	1.000000	0.71417	0.741000	0.31004	0.064000	0.16182	9.339000	0.96797	2.162000	0.67917	0.460000	0.39030	.		0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	Intron	G	41278077	A	G	41278077	5	3	52	1	0	0	0	0	0	0	1	0	4016	434	15	4	1999	4	CTNNB1	3	41278077	Splice_Site	SNP	A	TCGA-09-2044-01B-01W-0799-08	30218421	41278077	156744353	16	2530											
COL7A1	1294	broad.mit.edu	37	3	48609450	48609450	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr3:48609450C>G	ENST00000328333.8	-	91	7159	c.7052G>C	c.(7051-7053)gGa>gCa	p.G2351A	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2319A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2351	Triple-helical region.		G -> R (in a patient with dystrophic epidermolysis bullosa; mitis type; dbSNP:rs1800013).		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2351A(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAGGGTCTCCGGGCTCCCC	0.662																																																1	Substitution - Missense(1)	ovary(1)	3											36	34	34					3																	48609450		2203	4300	6503	48584454	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7052G>C	3.37:g.48609450C>G	ENSP00000332371:p.Gly2351Ala		48584454	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735285	0.48939	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99329	-5.75;-5.75	5.56	5.56	0.83823	.	0.000000	0.42682	D	0.000679	D	0.99670	0.9877	H	0.97732	4.065	0.47341	D	0.999394	D	0.89917	1.0	D	0.97110	1.0	D	0.97570	1.0104	10	0.72032	D	0.01	.	17.7149	0.88333	0.0:1.0:0.0:0.0	.	2351	Q02388	CO7A1_HUMAN	A	2351;2319	ENSP00000332371:G2351A;ENSP00000412569:G2319A	ENSP00000332371:G2351A	G	-	2	0	COL7A1	48584454	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.961000	0.70356	2.601000	0.87937	0.655000	0.94253	GGA		0.662	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		G	48609450	C	G	48609450	3	3	52	1	0	0	0	0	1	0	0	0	3704	855	30	3	1894	3	COL7A1	3	48609450	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	7331373	48609450	149412980	17	2531											
EEFSEC	60678	broad.mit.edu	37	3	128060192	128060192	+	Silent	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr3:128060192G>T	ENST00000254730.6	+	5	957	c.903G>T	c.(901-903)ggG>ggT	p.G301G	EEFSEC_ENST00000483457.1_Silent_p.G246G|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	301					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.G301G(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TGGAGCGCGGGTTGGTGTGTG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	3											90	82	85					3																	128060192		2203	4300	6503	129542882	SO:0001819	synonymous_variant	60678				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.903G>T	3.37:g.128060192G>T			129542882	Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																				0.592	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		T	128060192	G	T	128060192	2	4	52	1	0	0	0	0	0	0	0	1	4931	1248	44	3		3	EEFSEC	3	128060192	Silent	SNP	G	TCGA-09-2044-01B-01W-0799-08	79450742	128060192	69962238	18	2532											
ABCF3	55324	broad.mit.edu	37	3	183910418	183910418	+	Silent	SNP	C	C	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr3:183910418C>G	ENST00000429586.2	+	17	1784	c.1599C>G	c.(1597-1599)acC>acG	p.T533T	ABCF3_ENST00000292808.5_Silent_p.T527T|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	533	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T533T(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAAGTCTACCATGCTGAAGC	0.512																																																1	Substitution - coding silent(1)	ovary(1)	3											53	50	51					3																	183910418		2203	4300	6503	185393112	SO:0001819	synonymous_variant	55324			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1599C>G	3.37:g.183910418C>G			185393112	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	CCDS3254.1																																																																																				0.512	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		G	183910418	C	G	183910418	2	3	52	1	0	0	0	0	0	0	0	1	67	581	21	3		3	ABCF3	3	183910418	Silent	SNP	C	TCGA-09-2044-01B-01W-0799-08	55850226	183910418	14112012	19	2533											
THAP9	79725	broad.mit.edu	37	4	83839692	83839692	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr4:83839692A>T	ENST00000302236.5	+	5	2378	c.2327A>T	c.(2326-2328)gAg>gTg	p.E776V	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	776					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.E776V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AATATTTGTGAGCGAGTTGTA	0.343																																																1	Substitution - Missense(1)	ovary(1)	4											63	67	65					4																	83839692		2202	4299	6501	84058716	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2327A>T	4.37:g.83839692A>T	ENSP00000305533:p.Glu776Val		84058716	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	A	9.043	0.990061	0.18966	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.93133	-3.17	3.82	3.82	0.43975	.	0.525224	0.16022	N	0.233280	D	0.93307	0.7867	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.62649	0.905	D	0.93011	0.6432	10	0.87932	D	0	-11.1114	11.2867	0.49226	1.0:0.0:0.0:0.0	.	776	Q9H5L6	THAP9_HUMAN	V	776	ENSP00000305533:E776V	ENSP00000305533:E776V	E	+	2	0	THAP9	84058716	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.878000	0.63093	1.959000	0.56917	0.533000	0.62120	GAG		0.343	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		T	83839692	A	T	83839692	3	4	52	1	0	0	0	0	1	0	0	0	15851	304	11	5	2345	5	THAP9	4	83839692	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08		83839692	107314584	20	2534											
PTPN13	5783	broad.mit.edu	37	4	87731088	87731088	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr4:87731088C>A	ENST00000411767.2	+	46	7313	c.7250C>A	c.(7249-7251)aCc>aAc	p.T2417N	PTPN13_ENST00000427191.2_Missense_Mutation_p.T2398N|PTPN13_ENST00000316707.6_Missense_Mutation_p.T2226N|PTPN13_ENST00000511467.1_Missense_Mutation_p.T2422N|PTPN13_ENST00000436978.1_Missense_Mutation_p.T2422N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2417	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.T2422N(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CGTTCAGGGACCCTGATTTGC	0.433																																																1	Substitution - Missense(1)	ovary(1)	4											104	95	97					4																	87731088		1931	4145	6076	87950112	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7250C>A	4.37:g.87731088C>A	ENSP00000407249:p.Thr2417Asn		87950112	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981952	0.93044	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.52532	D	0.000061	T	0.55816	0.1944	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.64300	-0.6440	10	0.72032	D	0.01	.	19.1221	0.93367	0.0:1.0:0.0:0.0	.	2226;2398;2417;2422	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	N	2398;2422;2226;2417;2422;2366	ENSP00000408368:T2398N;ENSP00000394794:T2422N;ENSP00000322675:T2226N;ENSP00000407249:T2417N;ENSP00000426626:T2422N	ENSP00000322675:T2226N	T	+	2	0	PTPN13	87950112	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.881000	0.69706	2.510000	0.84645	0.655000	0.94253	ACC		0.433	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			A	87731088	C	A	87731088	3	1	52	1	0	0	0	0	1	0	0	0	12785	507	18	3	7443	3	PTPN13	4	87731088	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	3891396	87731088	103423188	21	2535											
MEPE	56955	broad.mit.edu	37	4	88767088	88767088	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr4:88767088C>A	ENST00000424957.3	+	4	1141	c.1068C>A	c.(1066-1068)aaC>aaA	p.N356K	MEPE_ENST00000497649.2_Missense_Mutation_p.N332K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.N387K|MEPE_ENST00000540395.1_Missense_Mutation_p.N243K|MEPE_ENST00000560249.1_Missense_Mutation_p.N243K|MEPE_ENST00000361056.3_Missense_Mutation_p.N356K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	356					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.N356K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAGAAGGAAACAGAGTGGATG	0.478																																																1	Substitution - Missense(1)	ovary(1)	4											41	41	41					4																	88767088		2203	4300	6503	88986112	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1068C>A	4.37:g.88767088C>A	ENSP00000416984:p.Asn356Lys		88986112	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112269	0.56398	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.99	3.11	0.35812	.	0.108387	0.41396	D	0.000892	T	0.54062	0.1835	M	0.83953	2.67	0.32396	N	0.552609	D	0.61080	0.989	P	0.54706	0.759	T	0.66388	-0.5936	10	0.87932	D	0	-18.8069	6.1304	0.20201	0.0:0.7728:0.0:0.2272	.	356	Q9NQ76	MEPE_HUMAN	K	356;387;332;243;356	ENSP00000416984:N356K;ENSP00000378534:N387K;ENSP00000422747:N332K;ENSP00000443491:N243K;ENSP00000354341:N356K	ENSP00000354341:N356K	N	+	3	2	MEPE	88986112	1.000000	0.71417	0.999000	0.59377	0.617000	0.37484	0.815000	0.27253	1.336000	0.45506	0.655000	0.94253	AAC		0.478	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			A	88767088	C	A	88767088	3	1	52	1	0	0	0	0	1	0	0	0	9478	477	17	3	1078	3	MEPE	4	88767088	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	1036000	88767088	102387188	22	2536											
FAT4	79633	broad.mit.edu	37	4	126241925	126241925	+	Silent	SNP	T	T	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr4:126241925T>A	ENST00000394329.3	+	1	4372	c.4359T>A	c.(4357-4359)ggT>ggA	p.G1453G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1453	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1453G(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACATTAATGGTCAACTATCCT	0.403																																																2	Substitution - coding silent(2)	ovary(2)	4											137	125	128					4																	126241925		1911	4135	6046	126461375	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4359T>A	4.37:g.126241925T>A			126461375	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126241925	T	A	126241925	2	1	52	1	0	0	0	0	0	0	0	1	5692	1654	58	5		5	FAT4	4	126241925	Silent	SNP	T	TCGA-09-2044-01B-01W-0799-08	37474837	126241925	64912351	23	2537											
TKTL2	84076	broad.mit.edu	37	4	164393547	164393547	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr4:164393547C>A	ENST00000280605.3	-	1	1500	c.1340G>T	c.(1339-1341)tGt>tTt	p.C447F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	447						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.C447S(2)|p.C447F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAAACAGTACAATTGGGAAT	0.483																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	4											88	89	89					4																	164393547		2203	4300	6503	164612997	SO:0001583	missense	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1340G>T	4.37:g.164393547C>A	ENSP00000280605:p.Cys447Phe		164612997	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681642	0.47991	.	.	ENSG00000151005	ENST00000280605	D	0.90844	-2.74	4.05	4.05	0.47172	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.93314	0.7869	L	0.55743	1.74	0.58432	D	0.999998	D	0.63880	0.993	D	0.70227	0.968	D	0.93740	0.7049	10	0.87932	D	0	-14.7166	14.5096	0.67776	0.0:1.0:0.0:0.0	.	447	Q9H0I9	TKTL2_HUMAN	F	447	ENSP00000280605:C447F	ENSP00000280605:C447F	C	-	2	0	TKTL2	164612997	0.961000	0.32948	0.988000	0.46212	0.466000	0.32739	1.385000	0.34408	2.551000	0.86045	0.650000	0.86243	TGT		0.483	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		A	164393547	C	A	164393547	3	1	52	1	0	0	0	0	1	0	0	0	15936	478	17	3	544	3	TKTL2	4	164393547	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	38151622	164393547	26760729	24	2538											
SAP30	8819	broad.mit.edu	37	4	174292633	174292633	+	Silent	SNP	C	C	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr4:174292633C>A	ENST00000296504.3	+	1	540	c.300C>A	c.(298-300)atC>atA	p.I100I	RP11-798M19.6_ENST00000609900.1_RNA|RP11-798M19.6_ENST00000608892.1_RNA|RP11-798M19.6_ENST00000609153.1_RNA|RP11-798M19.6_ENST00000608794.1_RNA	NM_003864.3	NP_003855.1			Sin3A-associated protein, 30kDa									p.I100I(1)		large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AGGTGAAGATCGAGCTGGATA	0.672																																																1	Substitution - coding silent(1)	ovary(1)	4											31	30	30					4																	174292633		2188	4275	6463	174529208	SO:0001819	synonymous_variant	8819			AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"sin3A-associated protein, 30kDa"			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000296504.3:c.300C>A	4.37:g.174292633C>A			174529208		Silent	SNP	ENST00000296504.3	37	CCDS3817.1																																																																																				0.672	SAP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362360.1	NM_003864		A	174292633	C	A	174292633	2	1	52	1	0	0	0	0	0	0	0	1	13836	874	31	3		3	SAP30	4	174292633	Silent	SNP	C	TCGA-09-2044-01B-01W-0799-08	9899086	174292633	16861643	25	2539											
GLRA3	8001	broad.mit.edu	37	4	175580273	175580273	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr4:175580273C>T	ENST00000274093.3	-	8	1505	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	GLRA3_ENST00000340217.5_Missense_Mutation_p.A335T	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	335					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.A335T(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTTACAGCTGCATACTCCAGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	4											123	115	118					4																	175580273		2203	4300	6503	175816848	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1003G>A	4.37:g.175580273C>T	ENSP00000274093:p.Ala335Thr		175816848	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592571	0.96590	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.86562	-2.14;-2.14	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.72625	0.978;0.939	D	0.93177	0.6571	10	0.87932	D	0	.	19.0501	0.93039	0.0:1.0:0.0:0.0	.	335;335	O75311-2;O75311	.;GLRA3_HUMAN	T	335	ENSP00000274093:A335T;ENSP00000345284:A335T	ENSP00000274093:A335T	A	-	1	0	GLRA3	175816848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.523000	0.85059	0.650000	0.86243	GCA		0.373	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			T	175580273	C	T	175580273	3	4	52	1	0	0	0	0	1	0	0	0	6456	710	25	2	403	2	GLRA3	4	175580273	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	1287640	175580273	15574003	26	2540											
KIAA0947	23379	broad.mit.edu	37	5	5460573	5460573	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr5:5460573G>A	ENST00000296564.7	+	13	1348	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		376					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.D376N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGAATACACAGATTCCAGCGA	0.318																																																1	Substitution - Missense(1)	ovary(1)	5											28	27	28					5																	5460573		1817	4079	5896	5513573	SO:0001583	missense	23379																														ENST00000296564.7:c.1126G>A	5.37:g.5460573G>A	ENSP00000296564:p.Asp376Asn		5513573	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.012116	0.35511	.	.	ENSG00000164151	ENST00000296564	T	0.46063	0.88	4.68	3.8	0.43715	.	1.092670	0.07022	N	0.826867	T	0.28300	0.0699	N	0.19112	0.55	0.24495	N	0.994281	P	0.35107	0.484	B	0.30179	0.112	T	0.17745	-1.0359	10	0.38643	T	0.18	-15.2596	8.8778	0.35356	0.105:0.0:0.895:0.0	.	376	Q9Y2F5	K0947_HUMAN	N	376	ENSP00000296564:D376N	ENSP00000296564:D376N	D	+	1	0	KIAA0947	5513573	1.000000	0.71417	0.549000	0.28204	0.079000	0.17450	3.866000	0.56040	0.959000	0.37980	0.298000	0.19748	GAT		0.318	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			A	5460573	G	A	5460573	3	1	52	1	0	0	0	0	1	0	0	0	8202	942	33	2	1176	2	KIAA0947	5	5460573	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08		5460573	175454687	27	2541											
MYO10	4651	broad.mit.edu	37	5	16672879	16672879	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr5:16672879G>A	ENST00000513610.1	-	37	5682	c.5228C>T	c.(5227-5229)gCt>gTt	p.A1743V	MYO10_ENST00000505695.1_Missense_Mutation_p.A1082V|MYO10_ENST00000427430.2_Missense_Mutation_p.A1100V|MYO10_ENST00000515803.1_Missense_Mutation_p.A1082V|MYO10_ENST00000274203.9_Missense_Mutation_p.A1100V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1743	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.A1743V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCAAACAAAGCAAACATGTT	0.527																																																1	Substitution - Missense(1)	ovary(1)	5											123	123	123					5																	16672879		2070	4190	6260	16725879	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5228C>T	5.37:g.16672879G>A	ENSP00000421280:p.Ala1743Val		16725879	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856810	0.71834	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;T;T;T;T	0.89681	-2.55;2.31;2.31;2.31;2.31	5.54	5.54	0.83059	Band 4.1 domain (1);FERM domain (1);Ras-association (1);	.	.	.	.	D	0.94185	0.8134	M	0.82056	2.57	0.80722	D	1	D;D;P	0.67145	0.986;0.996;0.866	P;P;P	0.60609	0.686;0.877;0.505	D	0.94604	0.7798	9	0.87932	D	0	.	19.4819	0.95013	0.0:0.0:1.0:0.0	.	622;1383;1743	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	V	1743;1082;1100;1082;1100	ENSP00000421280:A1743V;ENSP00000425051:A1082V;ENSP00000274203:A1100V;ENSP00000421170:A1082V;ENSP00000391106:A1100V	ENSP00000274203:A1100V	A	-	2	0	MYO10	16725879	1.000000	0.71417	0.361000	0.25849	0.433000	0.31745	9.869000	0.99810	2.595000	0.87683	0.655000	0.94253	GCT		0.527	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		A	16672879	G	A	16672879	3	1	52	1	0	0	0	0	1	0	0	0	10062	971	34	2	968	2	MYO10	5	16672879	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	11212306	16672879	164242381	28	2542											
IL31RA	133396	broad.mit.edu	37	5	55212641	55212641	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr5:55212641A>G	ENST00000447346.2	+	15	2053	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	IL31RA_ENST00000490985.1_Missense_Mutation_p.N521S|IL31RA_ENST00000354961.4_Missense_Mutation_p.N644S|IL31RA_ENST00000359040.5_Missense_Mutation_p.N663S|IL31RA_ENST00000396834.1_Missense_Mutation_p.N644S	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	631					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)	p.N663S(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGGAAAACAATTTAGGAGGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											63	68	66					5																	55212641		2203	4300	6503	55248398	SO:0001583	missense	133396			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1988A>G	5.37:g.55212641A>G	ENSP00000415900:p.Asn663Ser		55248398	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	A	9.539	1.112998	0.20795	.	.	ENSG00000164509	ENST00000396834;ENST00000447346;ENST00000359040;ENST00000490985;ENST00000354961	T;T;T;T;T	0.39997	1.25;1.24;1.23;1.05;1.25	5.65	3.25	0.37280	.	0.769548	0.12744	N	0.442804	T	0.24084	0.0583	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.22480	0.004;0.004;0.07	B;B;B	0.18871	0.006;0.006;0.023	T	0.17258	-1.0375	10	0.20519	T	0.43	-13.5449	4.4767	0.11746	0.1815:0.0911:0.0:0.7274	.	663;644;663	Q8NI17-5;Q8NI17-3;Q8NI17-2	.;.;.	S	644;663;663;521;644	ENSP00000380046:N644S;ENSP00000415900:N663S;ENSP00000351935:N663S;ENSP00000427533:N521S;ENSP00000347047:N644S	ENSP00000347047:N644S	N	+	2	0	IL31RA	55248398	0.020000	0.18652	0.073000	0.20177	0.642000	0.38348	0.853000	0.27777	1.063000	0.40649	-0.624000	0.04008	AAT		0.483	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		G	55212641	A	G	55212641	3	3	52	1	0	0	0	0	1	0	0	0	7691	101	4	4	2046	4	IL31RA	5	55212641	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08	38539762	55212641	125702619	29	2543											
FCHO2	115548	broad.mit.edu	37	5	72364550	72364550	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr5:72364550G>T	ENST00000430046.2	+	19	1639	c.1523G>T	c.(1522-1524)aGt>aTt	p.S508I	FCHO2_ENST00000512348.1_Missense_Mutation_p.S475I|FCHO2_ENST00000341845.6_Missense_Mutation_p.S508I	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	508	Ser-rich.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S508I(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CGGGCAGAAAGTTCTTCTTCT	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											99	103	102					5																	72364550		1928	4135	6063	72400306	SO:0001583	missense	115548			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1523G>T	5.37:g.72364550G>T	ENSP00000393776:p.Ser508Ile		72400306	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111993	0.94339	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.43688	0.95;0.94;3.38	5.97	5.97	0.96955	.	0.088927	0.85682	D	0.000000	T	0.66867	0.2833	M	0.69823	2.125	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.75484	0.986;0.928	T	0.66838	-0.5822	10	0.72032	D	0.01	-16.7338	20.4324	0.99085	0.0:0.0:1.0:0.0	.	475;508	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	I	508;508;475	ENSP00000393776:S508I;ENSP00000344034:S508I;ENSP00000427296:S475I	ENSP00000344034:S508I	S	+	2	0	FCHO2	72400306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.833000	0.97629	0.585000	0.79938	AGT		0.423	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		T	72364550	G	T	72364550	3	4	52	1	0	0	0	0	1	0	0	0	5788	1029	36	3	1597	3	FCHO2	5	72364550	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	17151909	72364550	108550710	30	2544											
SLCO6A1	133482	broad.mit.edu	37	5	101834369	101834369	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr5:101834369C>A	ENST00000506729.1	-	1	351	c.180G>T	c.(178-180)agG>agT	p.R60S	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R60S|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R60S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R60S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R60S|RP11-58B2.1_ENST00000502494.1_RNA			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R60S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AACCGCCGAACCTTATCAAGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	5											154	170	164					5																	101834369		2203	4300	6503	101862268	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.180G>T	5.37:g.101834369C>A	ENSP00000421339:p.Arg60Ser		101862268	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	9.740	1.164595	0.21538	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.47177	0.91;0.91;0.92;0.85;0.85	3.41	-2.01	0.07410	.	11.615200	0.00166	N	0.000000	T	0.26774	0.0655	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30439	0.248;0.279;0.16	B;B;B	0.26202	0.067;0.055;0.03	T	0.03034	-1.1080	10	0.23302	T	0.38	.	0.4762	0.00540	0.3301:0.297:0.162:0.2109	.	60;60;60	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	60	ENSP00000421339:R60S;ENSP00000369135:R60S;ENSP00000373671:R60S;ENSP00000421990:R60S;ENSP00000369138:R60S	ENSP00000369135:R60S	R	-	3	2	SLCO6A1	101862268	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.186000	0.09670	-0.492000	0.06687	-0.439000	0.05793	AGG		0.547	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		A	101834369	C	A	101834369	3	1	52	1	0	0	0	0	1	0	0	0	14735	506	18	3	2031	3	SLCO6A1	5	101834369	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	29469819	101834369	79080891	31	2545											
FCHSD1	89848	broad.mit.edu	37	5	141026288	141026288	+	Splice_Site	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr5:141026288A>G	ENST00000435817.2	-	11	976	c.926T>C	c.(925-927)gTg>gCg	p.V309A	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_Splice_Site_p.V233A|FCHSD1_ENST00000522783.1_Splice_Site_p.V307A	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	309								p.V309A(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGACACACACCTGAATGGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	5											28	30	29					5																	141026288		2020	4186	6206	141006472	SO:0001630	splice_region_variant	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.925-1T>C	5.37:g.141026288A>G			141006472	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126657	0.56721	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783	T;T;T	0.54071	1.37;0.59;1.13	5.17	5.17	0.71159	.	0.075363	0.51477	D	0.000100	T	0.45975	0.1369	L	0.53249	1.67	0.80722	D	1	P	0.42203	0.773	B	0.35931	0.214	T	0.51434	-0.8706	10	0.51188	T	0.08	-5.8531	12.6675	0.56849	1.0:0.0:0.0:0.0	.	309	Q86WN1	FCSD1_HUMAN	A	309;233;307	ENSP00000399259:V309A;ENSP00000427796:V233A;ENSP00000428677:V307A	ENSP00000399259:V309A	V	-	2	0	FCHSD1	141006472	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	4.095000	0.57728	2.089000	0.63090	0.379000	0.24179	GTG		0.582	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449	Missense_Mutation	G	141026288	A	G	141026288	5	3	52	1	0	0	0	0	0	0	1	0	5789	173	6	4	1186	4	FCHSD1	5	141026288	Splice_Site	SNP	A	TCGA-09-2044-01B-01W-0799-08	39191919	141026288	39888972	32	2546											
TEAD3	7005	broad.mit.edu	37	6	35454350	35454350	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr6:35454350A>C	ENST00000402886.3	-	2	191	c.38T>G	c.(37-39)aTg>aGg	p.M13R	TEAD3_ENST00000338863.7_Missense_Mutation_p.D30E			Q99594	TEAD3_HUMAN	TEA domain family member 3	73					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D46E(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CGCCCTCCGCATCGTTGTCCA	0.682																																																1	Substitution - Missense(1)	ovary(1)	6											37	47	44					6																	35454350		2183	4289	6472	35562328	SO:0001583	missense	7005			X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.38T>G	6.37:g.35454350A>C	ENSP00000384577:p.Met13Arg		35562328	O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000402886.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	10.18|10.18	1.278001|1.278001	0.23307|0.23307	.|.	.|.	ENSG00000007866|ENSG00000007866	ENST00000338863;ENST00000373905|ENST00000402886	T|T	0.38722|0.55413	1.12|0.52	5.15|5.15	-6.37|-6.37	0.01963|0.01963	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.32556|0.32556	0.0833|0.0833	M|M	0.76328|0.76328	2.33|2.33	0.25537|0.25537	N|N	0.987211|0.987211	D|B	0.63046|0.14438	0.992|0.01	D|B	0.76071|0.11329	0.987|0.006	T|T	0.46569|0.46569	-0.9182|-0.9182	10|9	0.46703|0.87932	T|D	0.11|0	-14.0063|-14.0063	15.5284|15.5284	0.75932|0.75932	0.4296:0.0:0.5704:0.0|0.4296:0.0:0.5704:0.0	.|.	46|13	Q7Z6V0|B5MCM0	.|.	E|R	30;46|13	ENSP00000345772:D30E|ENSP00000384577:M13R	ENSP00000345772:D30E|ENSP00000384577:M13R	D|M	-|-	3|2	2|0	TEAD3|TEAD3	35562328|35562328	0.819000|0.819000	0.29175|0.29175	0.545000|0.545000	0.28153|0.28153	0.031000|0.031000	0.12232|0.12232	0.007000|0.007000	0.13174|0.13174	-1.373000|-1.373000	0.02134|0.02134	-0.484000|-0.484000	0.04775|0.04775	GAT|ATG		0.682	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			C	35454350	A	C	35454350	3	2	52	1	0	0	0	0	1	0	0	0	15740	214	8	5	1265	5	TEAD3	6	35454350	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08		35454350	135660717	33	2547											
MOCS1	4337	broad.mit.edu	37	6	39877596	39877596	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr6:39877596T>C	ENST00000340692.5	-	9	1088	c.1085A>G	c.(1084-1086)aAg>aGg	p.K362R	MOCS1_ENST00000373186.4_Missense_Mutation_p.K362R|MOCS1_ENST00000425303.2_Missense_Mutation_p.K362R|MOCS1_ENST00000308559.7_Missense_Mutation_p.K362R|MOCS1_ENST00000373188.2_Missense_Mutation_p.K362R|MOCS1_ENST00000432280.2_Missense_Mutation_p.K333R|MOCS1_ENST00000373195.3_Missense_Mutation_p.K275R|MOCS1_ENST00000373175.4_Missense_Mutation_p.K333R			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	362	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.K362R(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGCCGCTTCTTCCTGCCCAC	0.617																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)											1	Substitution - Missense(1)	ovary(1)	6											120	107	111					6																	39877596		2203	4300	6503	39985574	SO:0001583	missense	0			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1085A>G	6.37:g.39877596T>C	ENSP00000344794:p.Lys362Arg		39985574	B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37		.	.	.	.	.	.	.	.	.	.	T	14.87	2.664741	0.47572	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.98	4.98	0.66077	Molybdenum cofactor synthesis C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	M	0.89840	3.065	0.80722	D	1	P;P;P;P;B	0.50066	0.915;0.474;0.931;0.915;0.325	P;B;P;P;B	0.50825	0.519;0.386;0.651;0.519;0.386	D	0.92744	0.6210	9	.	.	.	-23.5555	14.332	0.66564	0.0:0.0:0.0:1.0	.	362;362;362;362;362	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	R	362;362;333;362;275;362;362;333	ENSP00000362282:K362R;ENSP00000309843:K362R;ENSP00000362270:K333R;ENSP00000362284:K362R;ENSP00000362291:K275R;ENSP00000344794:K362R;ENSP00000416478:K362R;ENSP00000410809:K333R	.	K	-	2	0	MOCS1	39985574	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	7.912000	0.87465	1.857000	0.53885	0.455000	0.32223	AAG		0.617	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		C	39877596	T	C	39877596	3	2	52	1	0	0	0	0	1	0	0	0	9690	1609	56	4	80	4	MOCS1	6	39877596	Missense_Mutation	SNP	T	TCGA-09-2044-01B-01W-0799-08	4423246	39877596	131237471	34	2548											
CD109	135228	broad.mit.edu	37	6	74517956	74517956	+	Silent	SNP	A	A	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr6:74517956A>C	ENST00000287097.5	+	26	3452	c.3340A>C	c.(3340-3342)Aga>Cga	p.R1114R	CD109_ENST00000437994.2_Silent_p.R1114R|CD109_ENST00000422508.2_Silent_p.R1037R			Q6YHK3	CD109_HUMAN	CD109 molecule	1114					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.R1114R(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGACTTGGAGAGCAGAACA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	6											94	95	95					6																	74517956		2203	4300	6503	74574677	SO:0001819	synonymous_variant	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3340A>C	6.37:g.74517956A>C			74574677	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																				0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		C	74517956	A	C	74517956	2	2	52	1	0	0	0	0	0	0	0	1	2963	296	11	5		5	CD109	6	74517956	Silent	SNP	A	TCGA-09-2044-01B-01W-0799-08	34640360	74517956	96597111	35	2549											
CGA	1081	broad.mit.edu	37	6	87795538	87795538	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr6:87795538C>G	ENST00000369582.2	-	4	387	c.287G>C	c.(286-288)gGg>gCg	p.G96A	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	96					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.G96A(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TTTGAAACCCCCCATTACTGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											62	60	60					6																	87795538		2203	4300	6503	87852257	SO:0001583	missense	1081			V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"Endogenous ligands"	1885	protein-coding gene	gene with protein product	"follicle-stimulating hormone alpha subunit", "chorionic gonadotropin, alpha polypeptide", "luteinizing hormone alpha chain", "lutropin alpha chain", "thyroid-stimulating hormone alpha chain", "glycoprotein hormones alpha chain"	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.287G>C	6.37:g.87795538C>G	ENSP00000358595:p.Gly96Ala		87852257		Missense_Mutation	SNP	ENST00000369582.2	37	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	C	2.717	-0.267458	0.05754	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.73	4.81	0.61882	.	0.361561	0.30999	N	0.008442	T	0.07234	0.0183	N	0.11201	0.11	0.27897	N	0.939113	B	0.19935	0.04	B	0.28709	0.093	T	0.19192	-1.0313	9	0.20519	T	0.43	-23.9017	5.1244	0.14876	0.0:0.6506:0.1891:0.1603	.	96	P01215	GLHA_HUMAN	A	96	.	ENSP00000358595:G96A	G	-	2	0	CGA	87852257	1.000000	0.71417	0.927000	0.36925	0.011000	0.07611	1.540000	0.36115	2.699000	0.92147	0.650000	0.86243	GGG		0.348	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		G	87795538	C	G	87795538	3	3	52	1	0	0	0	0	1	0	0	0	3295	623	22	3	67	3	CGA	6	87795538	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	13277582	87795538	83319529	36	2550											
MET	4233	broad.mit.edu	37	7	116339800	116339800	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr7:116339800A>G	ENST00000318493.6	+	2	849	c.662A>G	c.(661-663)gAa>gGa	p.E221G	MET_ENST00000436117.2_Missense_Mutation_p.E221G|MET_ENST00000397752.3_Missense_Mutation_p.E221G			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E221G(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGGCTAAAGGAAACGAAAGAT	0.383			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	ovary(1)	7											183	180	181					7																	116339800		1897	4117	6014	116127036	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.662A>G	7.37:g.116339800A>G	ENSP00000317272:p.Glu221Gly		116127036	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443404	0.43429	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.04654	3.58;3.58;3.58	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.100884	0.64402	D	0.000002	T	0.17492	0.0420	L	0.55743	1.74	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.994;0.95;1.0;1.0;0.999;0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;P;D;D;D;D;D;D;D;D;D	0.97110	0.99;0.995;0.987;0.896;0.995;0.995;0.995;0.995;1.0;0.987;0.992;0.999;0.999	T	0.02059	-1.1221	10	0.26408	T	0.33	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	221;221;221;221;221;221;221;221;221;221;221;221;221	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	G	221	ENSP00000380860:E221G;ENSP00000317272:E221G;ENSP00000410980:E221G	ENSP00000317272:E221G	E	+	2	0	MET	116127036	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.668000	0.74457	2.371000	0.80710	0.533000	0.62120	GAA		0.383	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			G	116339800	A	G	116339800	3	3	52	1	0	0	0	0	1	0	0	0	9485	246	9	4	664	4	MET	7	116339800	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08		116339800	42798863	37	2551											
NPBWR1	2831	broad.mit.edu	37	8	53853435	53853435	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr8:53853435C>T	ENST00000331251.3	+	1	2445	c.968C>T	c.(967-969)aCt>aTt	p.T323I		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	323					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.T323I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CAGCTGATAACTTGCCGCGCG	0.672																																																1	Substitution - Missense(1)	ovary(1)	8											17	18	18					8																	53853435		2195	4285	6480	54015988	SO:0001583	missense	2831			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.968C>T	8.37:g.53853435C>T	ENSP00000330284:p.Thr323Ile		54015988	Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	4.619	0.115109	0.08831	.	.	ENSG00000183729	ENST00000331251	T	0.37411	1.2	4.66	0.152	0.14893	.	432.231000	0.02543	U	0.094863	T	0.22551	0.0544	L	0.27053	0.805	0.20926	N	0.999821	B	0.12630	0.006	B	0.11329	0.006	T	0.08994	-1.0695	10	0.20519	T	0.43	.	0.8193	0.01108	0.3039:0.3601:0.1244:0.2117	.	323	P48145	NPBW1_HUMAN	I	323	ENSP00000330284:T323I	ENSP00000330284:T323I	T	+	2	0	NPBWR1	54015988	0.123000	0.22298	0.007000	0.13788	0.013000	0.08279	1.183000	0.32041	0.159000	0.19401	-0.264000	0.10439	ACT		0.672	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		T	53853435	C	T	53853435	3	4	52	1	0	0	0	0	1	0	0	0	10568	565	20	2	970	2	NPBWR1	8	53853435	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08		53853435	92510587	38	2552											
ASPH	444	broad.mit.edu	37	8	62489351	62489351	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr8:62489351C>G	ENST00000379454.4	-	16	1316	c.1129G>C	c.(1129-1131)Gca>Cca	p.A377P	ASPH_ENST00000541428.1_Missense_Mutation_p.A348P	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	377					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.A377P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCATATCTTGCTCGTGGACTC	0.363																																																1	Substitution - Missense(1)	ovary(1)	8											177	158	165					8																	62489351		2203	4300	6503	62651905	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1129G>C	8.37:g.62489351C>G	ENSP00000368767:p.Ala377Pro		62651905	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377206	0.61735	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349	T;T;T	0.80033	0.14;0.14;-1.33	4.83	4.83	0.62350	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	D	0.90388	0.4393	10	0.72032	D	0.01	-19.1199	17.8909	0.88871	0.0:1.0:0.0:0.0	.	348;358;377	F5H667;F8W7A9;Q12797	.;.;ASPH_HUMAN	P	358;348;377;130	ENSP00000437864:A348P;ENSP00000368767:A377P;ENSP00000429718:A130P	ENSP00000368767:A377P	A	-	1	0	ASPH	62651905	1.000000	0.71417	0.843000	0.33291	0.925000	0.55904	3.810000	0.55613	2.390000	0.81377	0.561000	0.74099	GCA		0.363	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		G	62489351	C	G	62489351	3	3	52	1	0	0	0	0	1	0	0	0	1053	797	28	3	1187	3	ASPH	8	62489351	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	8635916	62489351	83874671	39	2553											
CYP7B1	9420	broad.mit.edu	37	8	65509443	65509443	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr8:65509443G>A	ENST00000310193.3	-	6	1450	c.1277C>T	c.(1276-1278)aCc>aTc	p.T426I	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	426					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.T426I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GAAAAAGGTGGTTTTCTTCTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	8											48	48	48					8																	65509443		2203	4300	6503	65671997	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1277C>T	8.37:g.65509443G>A	ENSP00000310721:p.Thr426Ile		65671997	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012885	0.75161	.	.	ENSG00000172817	ENST00000310193	D	0.84589	-1.87	5.55	3.71	0.42584	.	0.293664	0.36268	N	0.002697	D	0.87172	0.6111	L	0.57536	1.79	0.35531	D	0.802239	D	0.61697	0.99	P	0.60286	0.872	D	0.87975	0.2739	10	0.59425	D	0.04	-17.0635	6.367	0.21461	0.0701:0.1331:0.6585:0.1383	.	426	O75881	CP7B1_HUMAN	I	426	ENSP00000310721:T426I	ENSP00000310721:T426I	T	-	2	0	CYP7B1	65671997	0.999000	0.42202	0.984000	0.44739	0.997000	0.91878	2.826000	0.48104	0.646000	0.30693	0.563000	0.77884	ACC		0.338	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			A	65509443	G	A	65509443	3	1	52	1	0	0	0	0	1	0	0	0	4197	1261	44	2	247	2	CYP7B1	8	65509443	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	3020092	65509443	80854579	40	2554											
C9orf72	203228	broad.mit.edu	37	9	27548308	27548308	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr9:27548308C>G	ENST00000380003.3	-	11	1435	c.1372G>C	c.(1372-1374)Ggc>Cgc	p.G458R	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	458					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.G458R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GAGTGTAGGCCTGGTTTAATT	0.373																																																1	Substitution - Missense(1)	ovary(1)	9											111	111	111					9																	27548308		2203	4300	6503	27538308	SO:0001583	missense	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1372G>C	9.37:g.27548308C>G	ENSP00000369339:p.Gly458Arg		27538308	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854407	0.91355	.	.	ENSG00000147894	ENST00000380003	T	0.53423	0.62	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52793	-0.8528	9	.	.	.	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	458	Q96LT7	CI072_HUMAN	R	458	ENSP00000369339:G458R	.	G	-	1	0	C9orf72	27538308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.778000	0.68940	2.792000	0.96026	0.555000	0.69702	GGC		0.373	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		G	27548308	C	G	27548308	3	3	52	1	0	0	0	0	1	0	0	0	2495	681	24	3	77	3	C9orf72	9	27548308	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08		27548308	113665123	41	2555											
UNC13B	10497	broad.mit.edu	37	9	35310543	35310543	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr9:35310543C>T	ENST00000378495.3	+	9	1063	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	UNC13B_ENST00000378496.4_Missense_Mutation_p.H281Y|UNC13B_ENST00000396787.1_Missense_Mutation_p.H293Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	281					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.H281Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGACCAGTATCACGAACAAGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	9											129	126	127					9																	35310543		2203	4300	6503	35300543	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.841C>T	9.37:g.35310543C>T	ENSP00000367756:p.His281Tyr		35300543	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404728	0.62288	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.83992	-1.66;-1.59;-1.79	5.81	5.81	0.92471	.	1.666540	0.04390	U	0.362357	T	0.79435	0.4445	N	0.14661	0.345	0.40081	D	0.976138	B;B;B	0.19445	0.031;0.036;0.021	B;B;B	0.25140	0.016;0.058;0.032	T	0.50533	-0.8817	10	0.59425	D	0.04	-1.0788	19.0707	0.93134	0.0:1.0:0.0:0.0	.	281;281;281	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	Y	293;281;281	ENSP00000380006:H293Y;ENSP00000367756:H281Y;ENSP00000367757:H281Y	ENSP00000367756:H281Y	H	+	1	0	UNC13B	35300543	1.000000	0.71417	0.945000	0.38365	0.955000	0.61496	5.126000	0.64721	2.746000	0.94184	0.655000	0.94253	CAC		0.507	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		T	35310543	C	T	35310543	3	4	52	1	0	0	0	0	1	0	0	0	16985	826	29	2	875	2	UNC13B	9	35310543	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	7762235	35310543	105902888	42	2556											
SURF6	6838	broad.mit.edu	37	9	136199561	136199561	+	Silent	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr9:136199561C>T	ENST00000372022.4	-	4	694	c.429G>A	c.(427-429)gaG>gaA	p.E143E	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	143					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E143E(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GCCGCCTTTTCTCCAAGGCGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	9											68	77	74					9																	136199561		2203	4300	6503	135189382	SO:0001819	synonymous_variant	6838			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.429G>A	9.37:g.136199561C>T			135189382	Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Silent	SNP	ENST00000372022.4	37	CCDS6962.1																																																																																				0.627	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		T	136199561	C	T	136199561	2	4	52	1	0	0	0	0	0	0	0	1	15406	912	32	2		2	SURF6	9	136199561	Silent	SNP	C	TCGA-09-2044-01B-01W-0799-08	100889018	136199561	5013870	43	2557											
LIPK	643414	broad.mit.edu	37	10	90512322	90512322	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr10:90512322A>G	ENST00000404190.1	+	9	1009	c.1009A>G	c.(1009-1011)Ata>Gta	p.I337V		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	337					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.I337V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TCCAACAGCAATATGGAATGG	0.333																																																1	Substitution - Missense(1)	ovary(1)	10											42	40	40					10																	90512322		1874	4118	5992	90502302	SO:0001583	missense	643414				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.1009A>G	10.37:g.90512322A>G	ENSP00000383900:p.Ile337Val		90502302	A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	A	0.385	-0.926761	0.02377	.	.	ENSG00000204021	ENST00000404190	T	0.70986	-0.53	5.65	-3.16	0.05217	Alpha/beta hydrolase fold-1 (1);	0.879237	0.10015	N	0.726719	T	0.38878	0.1057	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.29579	-1.0007	10	0.14252	T	0.57	-0.1212	6.5376	0.22363	0.5181:0.0:0.3641:0.1178	.	337	Q5VXJ0	LIPK_HUMAN	V	337	ENSP00000383900:I337V	ENSP00000383900:I337V	I	+	1	0	LIPK	90502302	0.003000	0.15002	0.141000	0.22245	0.934000	0.57294	-0.154000	0.10130	-0.170000	0.10816	-0.250000	0.11733	ATA		0.333	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		G	90512322	A	G	90512322	3	3	52	1	0	0	0	0	1	0	0	0	8827	101	4	4	1043	4	LIPK	10	90512322	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08		90512322	45022425	44	2558											
CYP2C19	1557	broad.mit.edu	37	10	96602729	96602729	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr10:96602729T>A	ENST00000371321.3	+	7	1179	c.1097T>A	c.(1096-1098)cTg>cAg	p.L366Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	366					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.L366Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCCACCAGCCTGCCCCATGCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	10											199	164	176					10																	96602729		2203	4300	6503	96592719	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1097T>A	10.37:g.96602729T>A	ENSP00000360372:p.Leu366Gln		96592719	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246000	0.39697	.	.	ENSG00000165841	ENST00000371321	T	0.73575	-0.76	3.37	3.37	0.38596	.	0.392194	0.19736	U	0.107229	D	0.86715	0.5999	M	0.93062	3.375	0.09310	N	1	D	0.76494	0.999	D	0.63597	0.916	T	0.78507	-0.2177	10	0.87932	D	0	.	10.0786	0.42375	0.0:0.0:0.0:1.0	.	366	P33261	CP2CJ_HUMAN	Q	366	ENSP00000360372:L366Q	ENSP00000360372:L366Q	L	+	2	0	CYP2C19	96592719	0.255000	0.24002	0.006000	0.13384	0.008000	0.06430	3.556000	0.53734	1.302000	0.44855	0.414000	0.27820	CTG		0.517	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		A	96602729	T	A	96602729	3	1	52	1	0	0	0	0	1	0	0	0	4166	1580	55	5	1123	5	CYP2C19	10	96602729	Missense_Mutation	SNP	T	TCGA-09-2044-01B-01W-0799-08	6090407	96602729	38932018	45	2559											
RAPSN	5913	broad.mit.edu	37	11	47463166	47463166	+	Missense_Mutation	SNP	G	G	C	rs376607111		TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr11:47463166G>C	ENST00000298854.2	-	5	1122	c.909C>G	c.(907-909)gaC>gaG	p.D303E	RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000352508.3_Intron|RAPSN_ENST00000529341.1_Intron|RAPSN_ENST00000528356.1_5'UTR|RAPSN_ENST00000524487.1_Missense_Mutation_p.D250E	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	303					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)	p.D303E(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						ACCTCACCTTGTCCAGCGCCT	0.642																																																1	Substitution - Missense(1)	ovary(1)	11						G	GLU/ASP,	1,4399	2.1+/-5.4	0,1,2199	30	31	31		909,	3.3	1	11		31	0,8594		0,0,4297	no	missense,intron	RAPSN	NM_005055.4,NM_032645.4	45,	0,1,6496	CC,CG,GG		0.0,0.0227,0.0077	benign,	303/413,	47463166	1,12993	2200	4297	6497	47419742	SO:0001583	missense	5913				CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"RING-type (C3HC4) zinc fingers"	9863	protein-coding gene	gene with protein product	"rapsyn"	601592	"receptor-associated protein of the synapse, 43kD"			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.909C>G	11.37:g.47463166G>C	ENSP00000298854:p.Asp303Glu		47419742	Q8TDF3|Q9BTD9	Missense_Mutation	SNP	ENST00000298854.2	37	CCDS7936.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373463	0.24857	2.27E-4	0.0	ENSG00000165917	ENST00000298854;ENST00000524487	T;D	0.92249	-0.91;-3.0	5.28	3.27	0.37495	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.092362	0.64402	D	0.000001	T	0.81777	0.4894	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.73448	-0.3979	10	0.07325	T	0.83	-52.9596	12.2873	0.54798	0.073:0.1307:0.7963:0.0	.	303	Q13702	RAPSN_HUMAN	E	303;250	ENSP00000298854:D303E;ENSP00000435551:D250E	ENSP00000298854:D303E	D	-	3	2	RAPSN	47419742	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	0.999000	0.29757	1.210000	0.43336	0.563000	0.77884	GAC		0.642	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			C	47463166	G	C	47463166	3	2	52	1	0	0	0	0	1	0	0	0	13054	1368	48	3	345	3	RAPSN	11	47463166	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08		47463166	87543350	46	2560											
OR8H1	219469	broad.mit.edu	37	11	56057870	56057870	+	Silent	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr11:56057870G>T	ENST00000313022.2	-	1	696	c.669C>A	c.(667-669)acC>acA	p.T223T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T223T(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTTCAGGATGGTAGAGAGAA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	11											136	125	129					11																	56057870		2201	4294	6495	55814446	SO:0001819	synonymous_variant	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.669C>A	11.37:g.56057870G>T			55814446	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1																																																																																				0.393	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		T	56057870	G	T	56057870	2	4	52	1	0	0	0	0	0	0	0	1	11237	1335	47	3		3	OR8H1	11	56057870	Silent	SNP	G	TCGA-09-2044-01B-01W-0799-08	8594704	56057870	78948646	47	2561											
SSRP1	6749	broad.mit.edu	37	11	57095888	57095888	+	Silent	SNP	G	G	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr11:57095888G>A	ENST00000278412.2	-	13	1760	c.1494C>T	c.(1492-1494)aaC>aaT	p.N498N	snoU13_ENST00000459327.1_RNA|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	498	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.N498N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGCAGAGGCGTTGCTGTCAA	0.552																																					Colon(89;1000 1340 6884 23013 41819)											1	Substitution - coding silent(1)	ovary(1)	11											80	71	74					11																	57095888		2201	4296	6497	56852464	SO:0001819	synonymous_variant	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1494C>T	11.37:g.57095888G>A			56852464	Q5BJG8	Silent	SNP	ENST00000278412.2	37	CCDS7952.1																																																																																				0.552	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		A	57095888	G	A	57095888	2	1	52	1	0	0	0	0	0	0	0	1	15196	1136	40	1		1	SSRP1	11	57095888	Silent	SNP	G	TCGA-09-2044-01B-01W-0799-08	1038018	57095888	77910628	48	2562											
TCN1	6947	broad.mit.edu	37	11	59630092	59630092	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr11:59630092C>A	ENST00000257264.3	-	3	467	c.363G>T	c.(361-363)aaG>aaT	p.K121N	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	121	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.K121N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTTTCTAGCTTGTCGATCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	11											142	137	139					11																	59630092		2201	4295	6496	59386668	SO:0001583	missense	6947			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.363G>T	11.37:g.59630092C>A	ENSP00000257264:p.Lys121Asn		59386668	A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576879	0.45902	.	.	ENSG00000134827	ENST00000257264	T	0.36699	1.24	5.43	-10.9	0.00192	.	2.120580	0.02055	N	0.050303	T	0.25419	0.0618	L	0.56769	1.78	0.09310	N	1	B	0.15719	0.014	B	0.23018	0.043	T	0.14783	-1.0460	10	0.17832	T	0.49	.	3.1094	0.06352	0.1867:0.3937:0.2808:0.1389	.	121	P20061	TCO1_HUMAN	N	121	ENSP00000257264:K121N	ENSP00000257264:K121N	K	-	3	2	TCN1	59386668	0.000000	0.05858	0.000000	0.03702	0.508000	0.34012	-4.069000	0.00301	-1.499000	0.01821	0.650000	0.86243	AAG		0.378	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		A	59630092	C	A	59630092	3	1	52	1	0	0	0	0	1	0	0	0	15706	796	28	3	966	3	TCN1	11	59630092	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	2534204	59630092	75376424	49	2563											
PACS1	55690	broad.mit.edu	37	11	65978677	65978677	+	Missense_Mutation	SNP	C	C	T	rs398123009		TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr11:65978677C>T	ENST00000320580.4	+	4	640	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	203			R -> W (in MRD17). {ECO:0000269|PubMed:23159249}.	Missing (in Ref. 2; BAC04831). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.R203W(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TTACAAGAATCGGACCATCTT	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											201	168	179					11																	65978677		2201	4295	6496	65735253	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.607C>T	11.37:g.65978677C>T	ENSP00000316454:p.Arg203Trp		65735253	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102284	0.76983	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.38077	1.16	4.79	4.79	0.61399	.	0.111023	0.64402	D	0.000006	T	0.63331	0.2502	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.948;0.987	T	0.69083	-0.5239	10	0.87932	D	0	-22.9264	12.765	0.57386	0.1648:0.8352:0.0:0.0	.	203;203	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	W	203;100;105	ENSP00000316454:R203W	ENSP00000316454:R203W	R	+	1	2	PACS1	65735253	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.044000	0.41241	2.659000	0.90383	0.313000	0.20887	CGG		0.488	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		T	65978677	C	T	65978677	3	4	52	1	0	0	0	0	1	0	0	0	11372	875	31	1	621	1	PACS1	11	65978677	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	6348585	65978677	69027839	50	2564											
C11orf82	220042	broad.mit.edu	37	11	82639884	82639884	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr11:82639884C>T	ENST00000533655.1	+	4	391	c.179C>T	c.(178-180)tCc>tTc	p.S60F	C11orf82_ENST00000430323.2_Missense_Mutation_p.S60F|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000524921.1_Missense_Mutation_p.S60F|C11orf82_ENST00000525361.1_Missense_Mutation_p.S60F|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000525388.1_Missense_Mutation_p.S60F	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		60					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S60F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TACAAACTTTCCTTAAAAGTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11											109	110	109					11																	82639884		2203	4299	6502	82317532	SO:0001583	missense	220042																														ENST00000533655.1:c.179C>T	11.37:g.82639884C>T	ENSP00000435421:p.Ser60Phe		82317532	Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851149	0.71719	.	.	ENSG00000165490	ENST00000532277;ENST00000524921;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000532589;ENST00000525388;ENST00000528262	T;T	0.18810	2.19;2.19	5.48	5.48	0.80851	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.061993	0.64402	D	0.000002	T	0.47488	0.1448	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.80764	0.943;0.994	T	0.42292	-0.9460	9	.	.	.	.	14.9095	0.70746	0.0:0.8572:0.1428:0.0	.	60;60	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	F	60;60;60;60;60;121;60;60;60	ENSP00000414687:S60F;ENSP00000435421:S60F	.	S	+	2	0	C11orf82	82317532	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.990000	0.56965	2.552000	0.86080	0.557000	0.71058	TCC		0.358	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			T	82639884	C	T	82639884	3	4	52	1	0	0	0	0	1	0	0	0	1665	855	30	2	185	2	C11orf82	11	82639884	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	16661207	82639884	52366632	51	2565											
FAT3	120114	broad.mit.edu	37	11	92087887	92087887	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr11:92087887T>G	ENST00000298047.6	+	1	2626	c.2609T>G	c.(2608-2610)gTc>gGc	p.V870G	FAT3_ENST00000525166.1_Missense_Mutation_p.V720G|FAT3_ENST00000409404.2_Missense_Mutation_p.V870G|FAT3_ENST00000541502.1_Missense_Mutation_p.V870G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	870	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTTACTCAGTCTTGACAGAT	0.408										TCGA Ovarian(4;0.039)																																						0			11											99	96	97					11																	92087887		1955	4142	6097	91727535	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2609T>G	11.37:g.92087887T>G	ENSP00000298047:p.Val870Gly		91727535	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	17.26	3.345294	0.61073	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.53206	3.99;3.99;0.63;3.99	5.71	5.71	0.89125	.	.	.	.	.	T	0.50188	0.1601	L	0.39514	1.22	0.58432	D	0.999999	P	0.40250	0.709	P	0.46975	0.533	T	0.53648	-0.8409	9	0.87932	D	0	.	15.1667	0.72833	0.0:0.0:0.0:1.0	.	870	Q8TDW7-3	.	G	870;870;870;720	ENSP00000298047:V870G;ENSP00000387040:V870G;ENSP00000443786:V870G;ENSP00000432586:V720G	ENSP00000298047:V870G	V	+	2	0	FAT3	91727535	0.986000	0.35501	1.000000	0.80357	0.983000	0.72400	7.975000	0.88055	2.180000	0.69256	0.383000	0.25322	GTC		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92087887	T	G	92087887	3	3	52	1	0	0	0	0	1	0	0	0	5691	1667	58	5	2611	5	FAT3	11	92087887	Missense_Mutation	SNP	T	TCGA-09-2044-01B-01W-0799-08	9448003	92087887	42918629	52	2566											
ACAT1	38	broad.mit.edu	37	11	108012384	108012384	+	Silent	SNP	T	T	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr11:108012384T>C	ENST00000265838.4	+	8	874	c.783T>C	c.(781-783)ttT>ttC	p.F261F		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	261					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.F261F(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GTGTTGATTTTAGCAAAGTTC	0.303																																																1	Substitution - coding silent(1)	ovary(1)	11											88	91	90					11																	108012384		2201	4298	6499	107517594	SO:0001819	synonymous_variant	38			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.783T>C	11.37:g.108012384T>C			107517594	B2R6H1|G3XAB4|Q96FG8	Silent	SNP	ENST00000265838.4	37	CCDS8339.1																																																																																				0.303	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		C	108012384	T	C	108012384	2	2	52	1	0	0	0	0	0	0	0	1	121	1751	61	4		4	ACAT1	11	108012384	Silent	SNP	T	TCGA-09-2044-01B-01W-0799-08	15924497	108012384	26994132	53	2567											
RIMBP2	23504	broad.mit.edu	37	12	130897146	130897174	+	Splice_Site	DEL	ATAGGGGTTTGCGCTTACCTATTTTCTCC	ATAGGGGTTTGCGCTTACCTATTTTCTCC	-	rs12315966|rs549402406|rs184116412	byFrequency	TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	ATAGGGGTTTGCGCTTACCTATTTTCTCC	ATAGGGGTTTGCGCTTACCTATTTTCTCC	-	-	ATAGGGGTTTGCGCTTACCTATTTTCTCC	ATAGGGGTTTGCGCTTACCTATTTTCTCC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr12:130897146_130897174delATAGGGGTTTGCGCTTACCTATTTTCTCC	ENST00000261655.4	-	15	2974_2985	c.2811_2822delGGAGAAAATAGGTAAGCGCAAACCCCTAT	c.(2809-2823)gtggagaaaataggt>gtt	p.EKIG938fs		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	938					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E938D(1)|p.?(1)|p.I940T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGAAGGTCGAATAGGGGTTTGCGCTTACCTATTTTCTCCACAGGTGTAT	0.467																																																3	Substitution - Missense(2)|Unknown(1)	ovary(2)|large_intestine(1)	12																																								129463127	SO:0001630	splice_region_variant	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2821+1GGAGAAAATAGGTAAGCGCAAACCCCTAT>-	12.37:g.130897146_130897174delATAGGGGTTTGCGCTTACCTATTTTCTCC			129463099	Q96ID2	Splice_Site	DEL	ENST00000261655.4	37	CCDS31925.1																																																																																				0.467	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	Frame_Shift_Del	-	130897174	ATAGGGGTTTGCGCTTACCTATTTTCTCC	-	130897146	8	5	52	1	0	1	0	1	0	0	1	0	13366	116	4	0		0	RIMBP2	12	130897146	Splice_Site	DEL	ATAGGGGTTTGCGCTTACCTATTTTCTCC	TCGA-09-2044-01B-01W-0799-08		130897146	2954749	54	2568											
FGF14	2259	broad.mit.edu	37	13	102379046	102379046	+	Silent	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr13:102379046A>G	ENST00000376143.4	-	4	522	c.523T>C	c.(523-525)Tta>Cta	p.L175L	FGF14_ENST00000376131.4_Silent_p.L180L	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	175					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.L180L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTTATTTAATCCCAAAAAC	0.373																																																1	Substitution - coding silent(1)	ovary(1)	13											132	121	125					13																	102379046		2203	4300	6503	101177047	SO:0001819	synonymous_variant	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.523T>C	13.37:g.102379046A>G			101177047	Q86YN7|Q96QX6	Silent	SNP	ENST00000376143.4	37	CCDS9501.1																																																																																				0.373	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			G	102379046	A	G	102379046	2	3	52	1	0	0	0	0	0	0	0	1	5843	98	4	4		4	FGF14	13	102379046	Silent	SNP	A	TCGA-09-2044-01B-01W-0799-08		102379046	12790832	55	2569											
PNP	4860	broad.mit.edu	37	14	20940544	20940545	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	TC	TC	-	-	TC	TC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr14:20940544_20940545delTC	ENST00000361505.5	+	2	235_236	c.89_90delTC	c.(88-90)atcfs	p.I30fs	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.I30fs*10(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						GTTGCAATAATCTGTGGTTCTG	0.441																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								20010385	SO:0001589	frameshift_variant	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.89_90delTC	14.37:g.20940544_20940545delTC	ENSP00000354532:p.Ile30fs		20010384		Frame_Shift_Del	DEL	ENST00000361505.5	37	CCDS9552.1																																																																																				0.441	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		-	20940545	TC	-	20940544	7	5	52	1	0	1	0	1	0	0	0	0	12163	1435	50	0	95	0	PNP	14	20940544	Frame_Shift_Del	DEL	TC	TCGA-09-2044-01B-01W-0799-08		20940544	86408996	56	2570											
AKAP6	9472	broad.mit.edu	37	14	33015182	33015182	+	Silent	SNP	G	G	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr14:33015182G>A	ENST00000280979.4	+	4	1493	c.1323G>A	c.(1321-1323)ttG>ttA	p.L441L	AKAP6_ENST00000557272.1_Silent_p.L441L|AKAP6_ENST00000557354.1_Silent_p.L441L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	441					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.L441L(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCCTGGTATTGCAGTCTTCTT	0.473																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - coding silent(1)	ovary(1)	14											194	209	204					14																	33015182		2203	4300	6503	32084933	SO:0001819	synonymous_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1323G>A	14.37:g.33015182G>A			32084933	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.473	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		A	33015182	G	A	33015182	2	1	52	1	0	0	0	0	0	0	0	1	455	1310	46	2		2	AKAP6	14	33015182	Silent	SNP	G	TCGA-09-2044-01B-01W-0799-08	12074638	33015182	74334358	57	2571											
YLPM1	56252	broad.mit.edu	37	14	75265245	75265248	+	Frame_Shift_Del	DEL	GGTT	GGTT	-			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	GGTT	GGTT	-	-	GGTT	GGTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr14:75265245_75265248delGGTT	ENST00000325680.7	+	5	3369_3372	c.3245_3248delGGTT	c.(3244-3249)gggttgfs	p.GL1082fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.GL887fs|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	887	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.L888fs*1(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CGGGACAGAGGGTTGGTGAGGCCT	0.564																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								74335001	SO:0001589	frameshift_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3245_3248delGGTT	14.37:g.75265245_75265248delGGTT	ENSP00000324463:p.Gly1082fs		74334998	P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000325680.7	37	CCDS45135.1																																																																																				0.564	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		-	75265248	GGTT	-	75265245	7	5	52	1	0	1	0	1	0	0	0	0	17486	1232	43	0	3263	0	YLPM1	14	75265245	Frame_Shift_Del	DEL	GGTT	TCGA-09-2044-01B-01W-0799-08	42250063	75265245	32084295	58	2572											
C14orf118	55668	broad.mit.edu	37	14	76644340	76644340	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr14:76644340A>T	ENST00000261530.7	+	7	1128	c.1062A>T	c.(1060-1062)aaA>aaT	p.K354N	GPATCH2L_ENST00000553588.1_5'Flank|GPATCH2L_ENST00000312858.5_Intron	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	354								p.K354N(1)									GAAAGAATAAAGCGTTGGCTT	0.348																																																1	Substitution - Missense(1)	ovary(1)	14											173	181	178					14																	76644340		2203	4300	6503	75714093	SO:0001583	missense	55668			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1062A>T	14.37:g.76644340A>T	ENSP00000261530:p.Lys354Asn		75714093	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654055	0.67472	.	.	ENSG00000089916	ENST00000261530	T	0.45276	0.9	5.2	5.2	0.72013	.	1.316990	0.04680	N	0.412180	T	0.30541	0.0768	N	0.08118	0	0.80722	D	1	B	0.34290	0.447	B	0.32022	0.139	T	0.03453	-1.1035	10	0.54805	T	0.06	-41.5174	13.936	0.64026	1.0:0.0:0.0:0.0	.	354	Q9NWQ4	CN118_HUMAN	N	354	ENSP00000261530:K354N	ENSP00000261530:K354N	K	+	3	2	C14orf118	75714093	0.998000	0.40836	0.994000	0.49952	0.996000	0.88848	4.102000	0.57776	2.082000	0.62665	0.533000	0.62120	AAA		0.348	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		T	76644340	A	T	76644340	3	4	52	1	0	0	0	0	1	0	0	0	1741	69	3	5	1128	5	C14orf118	14	76644340	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08	1379095	76644340	30705200	59	2573											
TDP1	55775	broad.mit.edu	37	14	90455304	90455310	+	Frame_Shift_Del	DEL	GTCAGTT	GTCAGTT	-			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	GTCAGTT	GTCAGTT	-	-	GTCAGTT	GTCAGTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr14:90455304_90455310delGTCAGTT	ENST00000335725.4	+	11	1437_1443	c.1187_1193delGTCAGTT	c.(1186-1194)ggtcagtttfs	p.GQF396fs	TDP1_ENST00000555880.1_Frame_Shift_Del_p.GQF396fs|TDP1_ENST00000357382.3_Frame_Shift_Del_p.GQF157fs|TDP1_ENST00000393452.3_Frame_Shift_Del_p.GQF396fs|TDP1_ENST00000393454.2_Frame_Shift_Del_p.GQF396fs	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	396					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.G396fs*24(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCTGTCGTAGGTCAGTTTTCAAGCGTT	0.454								Repair of DNA-protein crosslinks																																								1	Deletion - Frameshift(1)	ovary(1)	14																																								89525063	SO:0001589	frameshift_variant	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1187_1193delGTCAGTT	14.37:g.90455304_90455310delGTCAGTT	ENSP00000337353:p.Gly396fs		89525057	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Frame_Shift_Del	DEL	ENST00000335725.4	37	CCDS9888.1																																																																																				0.454	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		-	90455310	GTCAGTT	-	90455304	7	5	52	1	0	1	0	1	0	0	0	0	15728	1261	44	0	1221	0	TDP1	14	90455304	Frame_Shift_Del	DEL	GTCAGTT	TCGA-09-2044-01B-01W-0799-08	13810964	90455304	16894236	60	2574											
BDKRB1	623	broad.mit.edu	37	14	96730614	96730614	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr14:96730614C>A	ENST00000216629.6	+	3	1201	c.595C>A	c.(595-597)Cac>Aac	p.H199N	BDKRB1_ENST00000553356.1_Missense_Mutation_p.H199N|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	199					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.H199N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGAGGCCTGGCACTTTGCAAG	0.567																																																1	Substitution - Missense(1)	ovary(1)	14											86	78	81					14																	96730614		2203	4300	6503	95800367	SO:0001583	missense	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.595C>A	14.37:g.96730614C>A	ENSP00000216629:p.His199Asn		95800367	A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	C	1.560	-0.536958	0.04082	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.34472	1.36;1.36	4.95	0.411	0.16392	GPCR, rhodopsin-like superfamily (1);	0.852869	0.10393	N	0.680207	T	0.13543	0.0328	N	0.05031	-0.125	0.29258	N	0.871531	B;B	0.09022	0.002;0.001	B;B	0.12837	0.007;0.008	T	0.28744	-1.0034	10	0.21540	T	0.41	-5.8753	0.6114	0.00762	0.2679:0.28:0.2584:0.1936	.	199;199	G3V4Y2;P46663	.;BKRB1_HUMAN	N	199	ENSP00000216629:H199N;ENSP00000452064:H199N	ENSP00000216629:H199N	H	+	1	0	BDKRB1	95800367	0.000000	0.05858	0.978000	0.43139	0.309000	0.27889	-0.127000	0.10547	0.487000	0.27698	0.462000	0.41574	CAC		0.567	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			A	96730614	C	A	96730614	3	1	52	1	0	0	0	0	1	0	0	0	1392	710	25	3	597	3	BDKRB1	14	96730614	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	6275310	96730614	10618926	61	2575											
ATG2B	55102	broad.mit.edu	37	14	96788593	96788594	+	Splice_Site	INS	-	-	AA			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	-	-	AA	AA	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr14:96788593_96788594insAA	ENST00000359933.4	-	18	3630		c.e18-2		snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.?(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATCACCATCTAAAACATAATA	0.347																																																1	Unknown(1)	ovary(1)	14																																								95858347	SO:0001630	splice_region_variant	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2737-2->TT	14.37:g.96788596_96788597dupAA			95858346	Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	INS	ENST00000359933.4	37	CCDS9944.2																																																																																				0.347	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	Intron	AA	96788594	-	AA	96788593	8	5	52	1	0	1	1	0	0	0	1	0	1094	1536	53	0	3601	0	ATG2B	14	96788593	Splice_Site	INS	-	TCGA-09-2044-01B-01W-0799-08	57979	96788593	10560947	62	2576											
RYR3	6263	broad.mit.edu	37	15	33893658	33893658	+	Silent	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr15:33893658G>T	ENST00000389232.4	+	17	1897	c.1827G>T	c.(1825-1827)ggG>ggT	p.G609G	RYR3_ENST00000415757.3_Silent_p.G609G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	609	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G609G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTGCAATGGGGTTGCAGTGA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	15											118	110	113					15																	33893658		2064	4218	6282	31680950	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1827G>T	15.37:g.33893658G>T			31680950	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33893658	G	T	33893658	2	4	52	1	0	0	0	0	0	0	0	1	13773	1219	43	3		3	RYR3	15	33893658	Silent	SNP	G	TCGA-09-2044-01B-01W-0799-08		33893658	68637734	63	2577											
C16orf75	116028	broad.mit.edu	37	16	11444576	11444576	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr16:11444576C>T	ENST00000312499.5	+	2	414	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	RMI2_ENST00000576027.1_3'UTR|RP11-485G7.6_ENST00000574681.1_RNA|RMI2_ENST00000572173.1_Missense_Mutation_p.L62F|RMI2_ENST00000381820.2_Missense_Mutation_p.L62F|AC009121.1_ENST00000458885.1_RNA	NM_152308.1	NP_689521.1	Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	125					DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L125F(1)		endometrium(1)|kidney(1)|ovary(1)	3						GATGACAGACCTTTCTGATAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	16											115	112	113					16																	11444576		2197	4300	6497	11352077	SO:0001583	missense	116028			AK123764	CCDS10548.1	16p13.13	2013-06-10	2013-06-10	2011-06-09	ENSG00000175643	ENSG00000175643			28349	protein-coding gene	gene with protein product		612426	"chromosome 16 open reading frame 75", "RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"	C16orf75		18923083, 20826341	Standard	NM_152308		Approved	MGC24665, BLAP18	uc002daw.1	Q96E14	OTTHUMG00000129793	ENST00000312499.5:c.373C>T	16.37:g.11444576C>T	ENSP00000310356:p.Leu125Phe		11352077	B3KVZ6|Q49AE2|Q8TBL0	Missense_Mutation	SNP	ENST00000312499.5	37	CCDS10548.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204121	0.79127	.	.	ENSG00000175643	ENST00000381820;ENST00000312499	.	.	.	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000003	T	0.78597	0.4308	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80609	-0.1306	9	0.87932	D	0	-1.7674	11.1292	0.48336	0.0:0.917:0.0:0.083	.	125	Q96E14	RMI2_HUMAN	F	62;125	.	ENSP00000310356:L125F	L	+	1	0	RMI2	11352077	0.994000	0.37717	0.310000	0.25168	0.952000	0.60782	3.111000	0.50360	2.804000	0.96469	0.655000	0.94253	CTT		0.448	RMI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252019.1	NM_152308		T	11444576	C	T	11444576	3	4	52	1	0	0	0	0	1	0	0	0	1834	681	24	2	379	2	C16orf75	16	11444576	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08		11444576	78910177	64	2578											
ERCC4	2072	broad.mit.edu	37	16	14041793	14041793	+	Silent	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr16:14041793C>T	ENST00000311895.7	+	11	2349	c.2340C>T	c.(2338-2340)tcC>tcT	p.S780S		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	780	Nuclease.				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.S780S(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGGAGATCTCCAGCAATGACA	0.512			"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											113	107	109					16																	14041793		2197	4300	6497	13949294	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.2340C>T	16.37:g.14041793C>T			13949294	A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	CCDS32390.1																																																																																				0.512	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		T	14041793	C	T	14041793	2	4	52	1	0	0	0	0	0	0	0	1	5215	581	21	2		2	ERCC4	16	14041793	Silent	SNP	C	TCGA-09-2044-01B-01W-0799-08	2597217	14041793	76312960	65	2579											
IL21R	50615	broad.mit.edu	37	16	27448978	27449003	+	Frame_Shift_Del	DEL	GAGTGTGGCAGCTTTCTCCTGGCTGA	GAGTGTGGCAGCTTTCTCCTGGCTGA	-	rs201430379		TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	GAGTGTGGCAGCTTTCTCCTGGCTGA	GAGTGTGGCAGCTTTCTCCTGGCTGA	-	-	GAGTGTGGCAGCTTTCTCCTGGCTGA	GAGTGTGGCAGCTTTCTCCTGGCTGA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr16:27448978_27449003delGAGTGTGGCAGCTTTCTCCTGGCTGA	ENST00000337929.3	+	4	795_820	c.322_347delGAGTGTGGCAGCTTTCTCCTGGCTGA	c.(322-348)gagtgtggcagctttctcctggctgagfs	p.ECGSFLLAE108fs	IL21R_ENST00000395754.4_Frame_Shift_Del_p.ECGSFLLAE108fs|IL21R_ENST00000395755.1_Frame_Shift_Del_p.ECGSFLLAE108fs|IL21R_ENST00000564089.1_Frame_Shift_Del_p.ECGSFLLAE108fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	108	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTACTCCCAGGAGTGTGGCAGCTTTCTCCTGGCTGAGAGCAGTGAG	0.566			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16																																								27356504	SO:0001589	frameshift_variant	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.322_347delGAGTGTGGCAGCTTTCTCCTGGCTGA	16.37:g.27448978_27449003delGAGTGTGGCAGCTTTCTCCTGGCTGA	ENSP00000338010:p.Glu108fs		27356479	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Frame_Shift_Del	DEL	ENST00000337929.3	37	CCDS10630.1																																																																																				0.566	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		-	27449003	GAGTGTGGCAGCTTTCTCCTGGCTGA	-	27448978	7	5	52	1	0	1	0	1	0	0	0	0	7671	1175	41	0	332	0	IL21R	16	27448978	Frame_Shift_Del	DEL	GAGTGTGGCAGCTTTCTCCTGGCTGA	TCGA-09-2044-01B-01W-0799-08	13407185	27448978	62905775	66	2580											
EIF4A1	1973	broad.mit.edu	37	17	7480957	7480957	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr17:7480957A>G	ENST00000293831.8	+	8	855	c.839A>G	c.(838-840)aAc>aGc	p.N280S	CD68_ENST00000250092.6_5'Flank|CD68_ENST00000380498.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORD10_ENST00000459579.1_RNA|SNORA67_ENST00000384423.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.N280S|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.N280S	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	280	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.N280S(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ATCTTCATCAACACCCGGAGG	0.542																																					Melanoma(120;278 1668 15796 27423 46368)											1	Substitution - Missense(1)	ovary(1)	17											122	113	116					17																	7480957		2203	4300	6503	7421681	SO:0001583	missense	1973			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.839A>G	17.37:g.7480957A>G	ENSP00000293831:p.Asn280Ser		7421681	B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372720	0.42003	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.05447	3.44	5.35	5.35	0.76521	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	L	0.55481	1.735	0.80722	D	1	P;B;D	0.54207	0.503;0.163;0.965	B;B;B	0.37692	0.109;0.036;0.256	T	0.08086	-1.0739	10	0.66056	D	0.02	-28.8123	13.2955	0.60294	1.0:0.0:0.0:0.0	.	280;280;280	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	S	280;103	ENSP00000293831:N280S	ENSP00000293831:N280S	N	+	2	0	EIF4A1	7421681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.930000	0.92872	2.035000	0.60131	0.459000	0.35465	AAC		0.542	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		G	7480957	A	G	7480957	3	3	52	1	0	0	0	0	1	0	0	0	5024	43	2	4	869	4	EIF4A1	17	7480957	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08		7480957	73714253	67	2581											
TP53	7157	broad.mit.edu	37	17	7578266	7578290	+	Splice_Site	DEL	TAAGATGCTGAGGAGGGGCCAGACC	TAAGATGCTGAGGAGGGGCCAGACC	-	rs587778718|rs121912665|rs55764374|rs370216745|rs587780071		TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	TAAGATGCTGAGGAGGGGCCAGACC	TAAGATGCTGAGGAGGGGCCAGACC	-	-	TAAGATGCTGAGGAGGGGCCAGACC	TAAGATGCTGAGGAGGGGCCAGACC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr17:7578266_7578290delTAAGATGCTGAGGAGGGGCCAGACC	ENST00000269305.4	-	6	749_772	c.560_583delGGTCTGGCCCCTCCTCAGCATCTTA	c.(559-585)gggtctggcccctcctcagcatcttat>gat	p.GSGPSSASY187fs	TP53_ENST00000445888.2_Splice_Site_p.GSGPSSASY187fs|TP53_ENST00000413465.2_Splice_Site_p.GSGPSSASY187fs|TP53_ENST00000455263.2_Splice_Site_p.GSGPSSASY187fs|TP53_ENST00000359597.4_Splice_Site_p.GSGPSSASY187fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site_p.GSGPSSASY187fs	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	187	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> C (in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.H193R(80)|p.L194R(47)|p.?(46)|p.H193L(42)|p.H193Y(29)|p.P190L(21)|p.I195F(20)|p.H193P(18)|p.L194F(17)|p.H193D(13)|p.P190fs*57(8)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.G187D(7)|p.P191del(7)|p.I195fs*52(6)|p.P190del(6)|p.Q99*(6)|p.Q60*(6)|p.P190S(6)|p.Q192R(5)|p.L62R(5)|p.L101R(5)|p.P191delP(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.A189V(4)|p.L194L(4)|p.I195fs*14(4)|p.H193N(4)|p.P190T(4)|p.H193fs*16(3)|p.P191fs*56(3)|p.G187V(3)|p.P191_E198>Q(3)|p.A189T(3)|p.Q192H(3)|p.P191L(2)|p.P191fs*53(2)|p.G187fs*16(2)|p.A189P(2)|p.P59delP(2)|p.H61P(2)|p.H100P(2)|p.H61D(2)|p.H100D(2)|p.P190A(2)|p.P190F(2)|p.A189G(2)|p.A189A(2)|p.L188fs*21(2)|p.L194fs*15(2)|p.P191R(2)|p.P191S(2)|p.P98delP(2)|p.H193H(2)|p.Q192Q(2)|p.P190R(2)|p.G187_L188delGL(1)|p.P59_E66>Q(1)|p.L188V(1)|p.P191fs*57(1)|p.I102F(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.G187fs*64(1)|p.L188_P191del(1)|p.Q192fs*30(1)|p.P97fs*57(1)|p.?fs(1)|p.G187G(1)|p.I102fs*14(1)|p.I195fs*50(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.H100Y(1)|p.H61Y(1)|p.Q192fs*16(1)|p.I195L(1)|p.P58fs*>33(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P191fs*15(1)|p.P191fs*18(1)|p.L188fs*19(1)|p.I63fs*14(1)|p.I195_G199delIRVEG(1)|p.L62H(1)|p.A189fs*53(1)|p.A189S(1)|p.A189fs*58(1)|p.A189D(1)|p.G187fs*22(1)|p.A189_Q192>E(1)|p.L194V(1)|p.L194I(1)|p.I102fs*52(1)|p.I195fs*12(1)|p.P191H(1)|p.L194fs*14(1)|p.P191P(1)|p.L101H(1)|p.P191T(1)|p.A189_P190>X(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.I63F(1)|p.I63fs*>28(1)|p.Q192fs*56(1)|p.P190H(1)|p.Q192del(1)|p.P190P(1)|p.H193_I195>AP(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)	TCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAAT	0.56		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"	668	Substitution - Missense(409)|Substitution - Nonsense(95)|Unknown(45)|Deletion - Frameshift(35)|Deletion - In frame(32)|Insertion - Frameshift(20)|Substitution - coding silent(13)|Whole gene deletion(8)|Complex - deletion inframe(8)|Complex - frameshift(2)|Complex - insertion inframe(1)	lung(95)|upper_aerodigestive_tract(83)|breast(80)|large_intestine(71)|ovary(64)|oesophagus(48)|haematopoietic_and_lymphoid_tissue(46)|urinary_tract(30)|liver(28)|biliary_tract(23)|stomach(22)|skin(21)|central_nervous_system(15)|endometrium(13)|kidney(7)|bone(5)|soft_tissue(4)|prostate(4)|pancreas(3)|eye(2)|cervix(1)|genital_tract(1)|adrenal_gland(1)|salivary_gland(1)	17	GRCh37	CD043957|CD972478|CM031755|CM083194|CM951225|CS011574|CS083991	TP53	D|M|S	rs121912665																																			7519015	SO:0001630	splice_region_variant	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.560-1GGTCTGGCCCCTCCTCAGCATCTTA>-	17.37:g.7578266_7578290delTAAGATGCTGAGGAGGGGCCAGACC			7518991	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	Splice_Site	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.56	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Frame_Shift_Del	-	7578290	TAAGATGCTGAGGAGGGGCCAGACC	-	7578266	8	5	52	1	0	1	0	1	0	0	1	0	16381	1406	49	0	711	0	TP53	17	7578266	Splice_Site	DEL	TAAGATGCTGAGGAGGGGCCAGACC	TCGA-09-2044-01B-01W-0799-08	97309	7578266	73616944	68	2582											
LGALS9C	654346	broad.mit.edu	37	17	18387230	18387230	+	Missense_Mutation	SNP	C	C	A	rs139241672	byFrequency	TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr17:18387230C>A	ENST00000328114.6	+	2	162	c.81C>A	c.(79-81)gaC>gaA	p.D27E	LGALS9C_ENST00000581545.1_Missense_Mutation_p.D27E|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.D27E|LGALS9C_ENST00000584941.1_Missense_Mutation_p.D27E|LGALS9C_ENST00000578983.1_3'UTR	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	27	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)	p.D27E(1)		NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GTCTCCAGGACGGATTTCAGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	17											94	68	78					17																	18387230		2129	3701	5830	18327955	SO:0001583	missense	654346				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"Lectins, galactoside-binding"	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.81C>A	17.37:g.18387230C>A	ENSP00000329932:p.Asp27Glu		18327955	B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	c	8.291	0.817668	0.16607	.	.	ENSG00000171916	ENST00000328114	T	0.10860	2.83	2.77	-5.54	0.02544	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.488362	0.19246	N	0.119042	T	0.03915	0.0110	N	0.21617	0.685	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.48222	-0.9054	10	0.05620	T	0.96	.	4.6061	0.12378	0.0:0.396:0.2977:0.3063	.	27	Q6DKI2	LEG9C_HUMAN	E	27	ENSP00000329932:D27E	ENSP00000329932:D27E	D	+	3	2	LGALS9C	18327955	0.002000	0.14202	0.064000	0.19789	0.114000	0.19823	-3.341000	0.00505	-1.697000	0.01420	0.184000	0.17185	GAC		0.567	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		A	18387230	C	A	18387230	3	1	52	1	0	0	0	0	1	0	0	0	8750	535	19	3	87	3	LGALS9C	17	18387230	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	10808964	18387230	62807980	69	2583											
IFI35	3430	broad.mit.edu	37	17	41165628	41165628	+	Missense_Mutation	SNP	G	G	T	rs140488187		TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr17:41165628G>T	ENST00000415816.2	+	5	734	c.511G>T	c.(511-513)Gtt>Ttt	p.V171F	IFI35_ENST00000438323.2_Missense_Mutation_p.V173F	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	171					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.V173F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CGATGTGGACGTTCGGGAGCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											259	254	256					17																	41165628		2203	4300	6503	38419154	SO:0001583	missense	3430			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.511G>T	17.37:g.41165628G>T	ENSP00000394579:p.Val171Phe		38419154	C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37		.	.	.	.	.	.	.	.	.	.	G	3.991	-0.004433	0.07773	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.44482	0.92;0.93	4.93	1.53	0.23141	.	0.857934	0.10601	N	0.655668	T	0.25457	0.0619	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22277	-1.0221	10	0.48119	T	0.1	.	3.5067	0.07693	0.6501:0.0:0.1851:0.1649	.	171	P80217	IN35_HUMAN	F	171;173	ENSP00000394579:V171F;ENSP00000395590:V173F	ENSP00000394579:V171F	V	+	1	0	IFI35	38419154	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.316000	0.08071	0.079000	0.16929	-1.177000	0.01723	GTT		0.582	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		T	41165628	G	T	41165628	3	4	52	1	0	0	0	0	1	0	0	0	7516	1145	40	3	535	3	IFI35	17	41165628	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	22778398	41165628	40029582	70	2584											
RGS9	8787	broad.mit.edu	37	17	63221418	63221418	+	Missense_Mutation	SNP	G	G	A	rs190284951	byFrequency	TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr17:63221418G>A	ENST00000262406.9	+	18	1773	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	RGS9_ENST00000449996.3_Missense_Mutation_p.R566Q|RGS9_ENST00000443584.3_Missense_Mutation_p.R566Q	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	569					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R569Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCTCGCAGCCGGCCCAGGGCC	0.667													G|||	4	0.000798722	0	0.0058	5008	,	,		16381	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	17						G	GLN/ARG,GLN/ARG	0,3808		0,0,1904	69	74	72		1697,1706	-8.1	0.1	17		72	1,8225		0,1,4112	yes	missense,missense	RGS9	NM_001081955.2,NM_003835.3	43,43	0,1,6016	AA,AG,GG		0.0122,0.0,0.0083	benign,benign	566/672,569/675	63221418	1,12033	1904	4113	6017	60651880	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1706G>A	17.37:g.63221418G>A	ENSP00000262406:p.Arg569Gln		60651880	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	0.062	-1.221551	0.01530	0.0	1.22E-4	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.29142	1.58;1.59	4.03	-8.05	0.01106	.	1.562480	0.03737	N	0.254454	T	0.06325	0.0163	N	0.03115	-0.41	0.09310	N	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17899	-1.0354	10	0.11794	T	0.64	.	1.5733	0.02619	0.2393:0.1054:0.3429:0.3124	.	569;569;566	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	Q	569;566	ENSP00000262406:R569Q;ENSP00000396329:R566Q	ENSP00000262406:R569Q	R	+	2	0	RGS9	60651880	0.000000	0.05858	0.090000	0.20809	0.158000	0.22134	-2.425000	0.01028	-2.613000	0.00444	-0.314000	0.08810	CGG		0.667	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		A	63221418	G	A	63221418	3	1	52	1	0	0	0	0	1	0	0	0	13316	1116	39	1	1831	1	RGS9	17	63221418	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	22055790	63221418	17973792	71	2585											
BPTF	2186	broad.mit.edu	37	17	65900902	65900902	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr17:65900902G>C	ENST00000321892.4	+	11	3197	c.3136G>C	c.(3136-3138)Gtt>Ctt	p.V1046L	BPTF_ENST00000335221.5_Missense_Mutation_p.V1046L|BPTF_ENST00000306378.6_Missense_Mutation_p.V920L|BPTF_ENST00000424123.3_Missense_Mutation_p.V907L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1046					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V920L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATAGGTTTGTTCCTAAATT	0.348																																																1	Substitution - Missense(1)	ovary(1)	17											140	141	141					17																	65900902		2203	4300	6503	63331364	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3136G>C	17.37:g.65900902G>C	ENSP00000315454:p.Val1046Leu		63331364	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	11.29	1.595878	0.28445	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.64085	-0.07;-0.08;-0.07	5.78	1.41	0.22369	.	.	.	.	.	T	0.40067	0.1102	N	0.17082	0.46	0.22266	N	0.999249	B;B;B	0.15930	0.0;0.015;0.002	B;B;B	0.12156	0.0;0.007;0.004	T	0.21965	-1.0230	9	0.17369	T	0.5	-1.3303	6.7711	0.23594	0.2129:0.2432:0.5439:0.0	.	1046;920;1046	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	L	920;1046;1046	ENSP00000307208:V920L;ENSP00000334351:V1046L;ENSP00000315454:V1046L	ENSP00000307208:V920L	V	+	1	0	BPTF	63331364	0.993000	0.37304	0.997000	0.53966	0.970000	0.65996	0.515000	0.22801	0.065000	0.16485	0.650000	0.86243	GTT		0.348	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		C	65900902	G	C	65900902	3	2	52	1	0	0	0	0	1	0	0	0	1495	1377	48	3	3178	3	BPTF	17	65900902	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	2679484	65900902	15294308	72	2586											
CYP2A6	1548	broad.mit.edu	37	19	41352954	41352954	+	Silent	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr19:41352954G>T	ENST00000301141.5	-	5	677	c.657C>A	c.(655-657)ctC>ctA	p.L219L	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	219					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.L219L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACATCTCATAGAGCTGGGGTT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	19											36	32	33					19																	41352954		2203	4297	6500	46044794	SO:0001819	synonymous_variant	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.657C>A	19.37:g.41352954G>T			46044794	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	ENST00000301141.5	37	CCDS12568.1																																																																																				0.532	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		T	41352954	G	T	41352954	2	4	52	1	0	0	0	0	0	0	0	1	4162	929	33	3		3	CYP2A6	19	41352954	Silent	SNP	G	TCGA-09-2044-01B-01W-0799-08		41352954	17776029	73	2587											
ZNF765	91661	broad.mit.edu	37	19	53912330	53912330	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr19:53912330A>T	ENST00000396408.3	+	4	1639	c.1522A>T	c.(1522-1524)Aac>Tac	p.N508Y	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N508Y(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTCAAATCAAACCTTGAAAG	0.398																																																1	Substitution - Missense(1)	ovary(1)	19											35	37	36					19																	53912330		2170	4286	6456	58604142	SO:0001583	missense	91661			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1522A>T	19.37:g.53912330A>T	ENSP00000379689:p.Asn508Tyr		58604142	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-2.974918	0.00047	.	.	ENSG00000196417	ENST00000396408	T	0.01059	5.39	1.27	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01189	0.0039	L	0.49571	1.57	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.44757	-0.9307	8	.	.	.	.	3.7833	0.08689	0.3889:0.4025:0.2086:0.0	.	508	Q7L2R6	ZN765_HUMAN	Y	508	ENSP00000379689:N508Y	.	N	+	1	0	ZNF765	58604142	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-6.041000	0.00084	-1.428000	0.01989	-1.015000	0.02457	AAC		0.398	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		T	53912330	A	T	53912330	3	4	52	1	0	0	0	0	1	0	0	0	18139	14	1	5	1532	5	ZNF765	19	53912330	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08	12559376	53912330	5216653	74	2588											
LILRA1	11024	broad.mit.edu	37	19	55106396	55106396	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr19:55106396C>T	ENST00000251372.3	+	4	519	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.P113S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	113	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.P113S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCCAGTGACCCCCTGGAGCT	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											72	71	71					19																	55106396		2203	4300	6503	59798208	SO:0001583	missense	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.337C>T	19.37:g.55106396C>T	ENSP00000251372:p.Pro113Ser		59798208	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156287	0.38021	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.11495	2.77;2.77	1.58	0.392	0.16288	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.583908	0.15502	N	0.258976	T	0.29684	0.0741	M	0.85777	2.775	0.20307	N	0.999916	D;D	0.89917	1.0;0.981	D;P	0.91635	0.999;0.73	T	0.04115	-1.0976	10	0.54805	T	0.06	.	5.564	0.17160	0.0:0.6484:0.3516:0.0	.	113;113	O75019-2;O75019	.;LIRA1_HUMAN	S	113	ENSP00000251372:P113S;ENSP00000413715:P113S	ENSP00000251372:P113S	P	+	1	0	LILRA1	59798208	0.000000	0.05858	0.798000	0.32154	0.025000	0.11179	-0.284000	0.08422	0.189000	0.20188	0.194000	0.17425	CCC		0.622	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		T	55106396	C	T	55106396	3	4	52	1	0	0	0	0	1	0	0	0	8784	623	22	2	347	2	LILRA1	19	55106396	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	1194066	55106396	4022587	75	2589											
VPS16	64601	broad.mit.edu	37	20	2846086	2846086	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr20:2846086A>G	ENST00000380445.3	+	22	2288	c.2216A>G	c.(2215-2217)gAt>gGt	p.D739G	VPS16_ENST00000380443.3_Missense_Mutation_p.D425G|VPS16_ENST00000380469.3_Missense_Mutation_p.D595G|PTPRA_ENST00000380393.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	739					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.D739G(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GATTTGGAAGATTGGGAAGAG	0.572																																																1	Substitution - Missense(1)	ovary(1)	20											55	50	52					20																	2846086		2203	4300	6503	2794086	SO:0001583	missense	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2216A>G	20.37:g.2846086A>G	ENSP00000369810:p.Asp739Gly		2794086	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706837	0.68615	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.50548	0.74;0.74;0.74	5.5	5.5	0.81552	Vps16, C-terminal (1);	0.093797	0.64402	D	0.000001	T	0.57636	0.2067	M	0.83223	2.63	0.80722	D	1	P;P;P;P	0.49185	0.77;0.92;0.874;0.92	P;B;B;B	0.45998	0.5;0.446;0.443;0.446	T	0.66184	-0.5987	10	0.66056	D	0.02	-15.3781	13.5537	0.61747	1.0:0.0:0.0:0.0	.	215;425;595;739	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	G	739;595;425	ENSP00000369810:D739G;ENSP00000369836:D595G;ENSP00000369808:D425G	ENSP00000369808:D425G	D	+	2	0	VPS16	2794086	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	8.723000	0.91458	2.076000	0.62316	0.533000	0.62120	GAT		0.572	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		G	2846086	A	G	2846086	3	3	52	1	0	0	0	0	1	0	0	0	17193	333	12	4	2302	4	VPS16	20	2846086	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08		2846086	60179434	76	2590											
DSN1	79980	broad.mit.edu	37	20	35399277	35399277	+	Splice_Site	SNP	T	T	G			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr20:35399277T>G	ENST00000426836.1	-	3	726	c.354A>C	c.(352-354)acA>acC	p.T118T	DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Splice_Site_p.T46T|DSN1_ENST00000373750.4_Splice_Site_p.T118T|DSN1_ENST00000373745.3_Splice_Site_p.T118T|DSN1_ENST00000448110.2_Splice_Site_p.T102T|DSN1_ENST00000473615.1_5'UTR	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	118					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.T118T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GCACCCCACCTGTGATGCCCT	0.527																																																1	Substitution - coding silent(1)	ovary(1)	20											163	167	166					20																	35399277		2203	4300	6503	34832691	SO:0001630	splice_region_variant	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.355+1A>C	20.37:g.35399277T>G			34832691	B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Silent	SNP	ENST00000426836.1	37	CCDS13286.1																																																																																				0.527	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918	Silent	G	35399277	T	G	35399277	5	3	52	1	0	0	0	0	0	0	1	0	4780	1594	55	5	752	5	DSN1	20	35399277	Splice_Site	SNP	T	TCGA-09-2044-01B-01W-0799-08	32553191	35399277	27626243	77	2591											
DNTTIP1	116092	broad.mit.edu	37	20	44430077	44430077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr20:44430077G>T	ENST00000372622.3	+	6	546	c.478G>T	c.(478-480)Gga>Tga	p.G160*		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	160						nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G160*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TGCCCATCGAGGAAGCCCCCT	0.522																																																1	Substitution - Nonsense(1)	ovary(1)	20											134	122	126					20																	44430077		2203	4300	6503	43863484	SO:0001587	stop_gained	116092			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.478G>T	20.37:g.44430077G>T	ENSP00000361705:p.Gly160*		43863484	B2RA18|Q96DE3|Q9BQP2|Q9H148	Nonsense_Mutation	SNP	ENST00000372622.3	37	CCDS13369.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.267522|5.267522|5.267522	0.95399|0.95399|0.95399	.|.|.	.|.|.	ENSG00000101457|ENSG00000101457|ENSG00000101457	ENST00000435014|ENST00000372622;ENST00000415790|ENST00000456939	.|.|T	.|.|0.52295	.|.|0.67	6.06|6.06|6.06	6.06|6.06|6.06	0.98353|0.98353|0.98353	.|.|.	.|0.159129|.	.|0.56097|.	.|D|.	.|0.000025|.	T|.|T	0.60183|.|0.60183	0.2249|.|0.2249	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.70103|.|0.70103	-0.4964|.|-0.4964	3|.|5	.|0.11182|0.72032	.|T|D	.|0.66|0.01	-17.6249|-17.6249|-17.6249	12.4937|12.4937|12.4937	0.55916|0.55916|0.55916	0.0762:0.0:0.9238:0.0|0.0762:0.0:0.9238:0.0|0.0762:0.0:0.9238:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|M	86|160;120|110	.|.|ENSP00000401024:R110M	.|ENSP00000361705:G160X|ENSP00000401024:R110M	E|G|R	+|+|+	3|1|2	2|0|0	DNTTIP1|DNTTIP1|DNTTIP1	43863484|43863484|43863484	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	5.943000|5.943000|5.943000	0.70211|0.70211|0.70211	2.882000|2.882000|2.882000	0.98803|0.98803|0.98803	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|AGG		0.522	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		T	44430077	G	T	44430077	4	4	52	1	0	0	0	0	0	1	0	0	4681	1001	35	3	500	3	DNTTIP1	20	44430077	Nonsense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	9030800	44430077	18595443	78	2592											
SULF2	55959	broad.mit.edu	37	20	46365480	46365480	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr20:46365480C>A	ENST00000359930.4	-	3	1233	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000484875.1_Missense_Mutation_p.A128S|SULF2_ENST00000361612.4_Missense_Mutation_p.A128S|SULF2_ENST00000467815.1_Missense_Mutation_p.A128S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	128					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.A128S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGGTACACGGCAAAGGTGCGG	0.617																																																1	Substitution - Missense(1)	ovary(1)	20											155	111	126					20																	46365480		2203	4300	6503	45798887	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.382G>T	20.37:g.46365480C>A	ENSP00000353007:p.Ala128Ser		45798887	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643318	0.87859	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-3.55	5.34	5.34	0.76211	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.157992	0.56097	D	0.000032	D	0.96380	0.8819	M	0.79258	2.445	0.50039	D	0.999849	B;B;B	0.29341	0.242;0.121;0.147	B;B;B	0.31751	0.135;0.032;0.054	D	0.95497	0.8574	10	0.59425	D	0.04	-15.8791	13.9501	0.64111	0.1518:0.8482:0.0:0.0	.	128;128;128	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	S	128	ENSP00000353007:A128S;ENSP00000418290:A128S;ENSP00000354662:A128S;ENSP00000418442:A128S;ENSP00000410026:A128S	ENSP00000353007:A128S	A	-	1	0	SULF2	45798887	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.922000	0.70036	2.502000	0.84385	0.561000	0.74099	GCC		0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46365480	C	A	46365480	3	1	52	1	0	0	0	0	1	0	0	0	15373	710	25	3	2306	3	SULF2	20	46365480	Missense_Mutation	SNP	C	TCGA-09-2044-01B-01W-0799-08	1935403	46365480	16660040	79	2593											
B4GALT5	9334	broad.mit.edu	37	20	48263528	48263528	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr20:48263528G>T	ENST00000371711.4	-	3	525	c.338C>A	c.(337-339)aCc>aAc	p.T113N		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	113					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.T113N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTCAGGGCAGGTATGGTTTGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	20											203	186	192					20																	48263528		2203	4300	6503	47696935	SO:0001583	missense	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.338C>A	20.37:g.48263528G>T	ENSP00000360776:p.Thr113Asn		47696935	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389696	0.42410	.	.	ENSG00000158470	ENST00000371711	T	0.34667	1.35	5.45	5.45	0.79879	.	0.152267	0.64402	D	0.000012	T	0.32133	0.0819	L	0.36672	1.1	0.33982	D	0.648079	B	0.24823	0.112	B	0.22880	0.042	T	0.28554	-1.0040	10	0.21540	T	0.41	-11.0264	19.6309	0.95701	0.0:0.0:1.0:0.0	.	113	O43286	B4GT5_HUMAN	N	113	ENSP00000360776:T113N	ENSP00000360776:T113N	T	-	2	0	B4GALT5	47696935	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.511000	0.53400	2.716000	0.92895	0.650000	0.86243	ACC		0.453	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		T	48263528	G	T	48263528	3	4	52	1	0	0	0	0	1	0	0	0	1274	1261	44	3	856	3	B4GALT5	20	48263528	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	1898048	48263528	14761992	80	2594											
POTED	317754	broad.mit.edu	37	21	14987796	14987796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr21:14987796G>T	ENST00000299443.5	+	3	767	c.715G>T	c.(715-717)Gga>Tga	p.G239*		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	239						plasma membrane (GO:0005886)		p.G239*(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGATGAGTATGGAAATACCGC	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	21											0	1	1					21																	14987796		0	3	3	13909667	SO:0001587	stop_gained	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.715G>T	21.37:g.14987796G>T	ENSP00000299443:p.Gly239*		13909667	C9JCF7	Nonsense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314250	0.60414	.	.	ENSG00000166351	ENST00000299443	.	.	.	1.4	1.4	0.22301	.	0.428210	0.19857	N	0.104504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.2468	0.20823	0.0:0.0:1.0:0.0	.	.	.	.	X	239	.	ENSP00000299443:G239X	G	+	1	0	POTED	13909667	0.944000	0.32072	0.021000	0.16686	0.018000	0.09664	1.508000	0.35769	1.081000	0.41110	0.184000	0.17185	GGA		0.378	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		T	14987796	G	T	14987796	4	4	52	1	0	0	0	0	0	1	0	0	12263	1349	47	3	725	3	POTED	21	14987796	Nonsense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08		14987796	33142099	81	2595											
GCFC1	94104	broad.mit.edu	37	21	34117135	34117135	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr21:34117135A>C	ENST00000331923.4	-	13	2347	c.2158T>G	c.(2158-2160)Tca>Gca	p.S720A	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1_ENST00000290178.4_Missense_Mutation_p.S720A	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	720					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S720A(1)									TTCACTACTGAAGGATATCCA	0.313																																																1	Substitution - Missense(1)	ovary(1)	21											112	124	120					21																	34117135		2203	4297	6500	33039006	SO:0001583	missense	94104			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2158T>G	21.37:g.34117135A>C	ENSP00000328992:p.Ser720Ala		33039006	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146336	0.57044	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.42131	0.98;0.98	6.17	6.17	0.99709	GC-rich sequence DNA-binding factor domain (1);	0.111724	0.64402	D	0.000013	T	0.26557	0.0649	N	0.17082	0.46	0.38808	D	0.955359	B;B;B	0.31256	0.225;0.316;0.139	B;B;B	0.29353	0.078;0.101;0.06	T	0.19484	-1.0304	10	0.26408	T	0.33	-3.9916	11.5539	0.50737	0.8666:0.0:0.0:0.1334	.	720;720;229	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	A	720	ENSP00000328992:S720A;ENSP00000290178:S720A	ENSP00000290178:S720A	S	-	1	0	GCFC1	33039006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.938000	0.63519	2.371000	0.80710	0.533000	0.62120	TCA		0.313	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		C	34117135	A	C	34117135	3	2	52	1	0	0	0	0	1	0	0	0	6289	246	9	5	737	5	GCFC1	21	34117135	Missense_Mutation	SNP	A	TCGA-09-2044-01B-01W-0799-08	19129339	34117135	14012760	82	2596											
HLCS	3141	broad.mit.edu	37	21	38309277	38309277	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chr21:38309277G>T	ENST00000399120.1	-	5	1698	c.468C>A	c.(466-468)aaC>aaA	p.N156K	HLCS_ENST00000336648.4_Missense_Mutation_p.N156K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	156					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.N156K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCCCGTGAGGTTGACTCTCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	21											87	71	76					21																	38309277		2203	4300	6503	37231147	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.468C>A	21.37:g.38309277G>T	ENSP00000382071:p.Asn156Lys		37231147	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373646	0.24857	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98028	-4.67;-4.67	5.77	3.65	0.41850	.	0.612689	0.19814	N	0.105470	D	0.96002	0.8698	M	0.73962	2.25	0.09310	N	1	B;P	0.44734	0.38;0.842	B;B	0.37601	0.056;0.254	D	0.90590	0.4536	10	0.29301	T	0.29	.	13.2817	0.60219	0.1519:0.0:0.8481:0.0	.	156;156	B2RAH1;P50747	.;BPL1_HUMAN	K	156	ENSP00000382071:N156K;ENSP00000338387:N156K	ENSP00000338387:N156K	N	-	3	2	HLCS	37231147	0.292000	0.24362	0.002000	0.10522	0.079000	0.17450	0.660000	0.25009	1.449000	0.47699	0.561000	0.74099	AAC		0.587	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			T	38309277	G	T	38309277	3	4	52	1	0	0	0	0	1	0	0	0	7213	1252	44	3	1744	3	HLCS	21	38309277	Missense_Mutation	SNP	G	TCGA-09-2044-01B-01W-0799-08	4192142	38309277	9820618	83	2597											
MAGED1	9500	broad.mit.edu	37	X	51639606	51639606	+	Silent	SNP	G	G	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chrX:51639606G>A	ENST00000375722.1	+	4	1107	c.855G>A	c.(853-855)caG>caA	p.Q285Q	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Silent_p.Q341Q|MAGED1_ENST00000326587.7_Silent_p.Q285Q|MAGED1_ENST00000375772.3_Silent_p.Q285Q			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	285	Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.Q341Q(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TGACCACTCAGAACCCACCTG	0.597										Multiple Myeloma(10;0.10)																																						1	Substitution - coding silent(1)	ovary(1)	X											44	40	41					X																	51639606		2203	4300	6503	51656346	SO:0001819	synonymous_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.855G>A	X.37:g.51639606G>A			51656346	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1																																																																																				0.597	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		A	51639606	G	A	51639606	2	1	52	1	0	0	0	0	0	0	0	1	9183	933	33	2		2	MAGED1	23	51639606	Silent	SNP	G	TCGA-09-2044-01B-01W-0799-08		51639606	103630954	84	2598											
PHF8	23133	broad.mit.edu	37	X	54020323	54020323	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chrX:54020323T>C	ENST00000357988.5	-	13	1803	c.1445A>G	c.(1444-1446)cAg>cGg	p.Q482R	PHF8_ENST00000338154.6_Missense_Mutation_p.Q446R|PHF8_ENST00000338946.6_Intron|PHF8_ENST00000322659.8_Missense_Mutation_p.Q446R	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	482					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.Q446R(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCCAACGTTCTGTTGGAAGAT	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											50	51	51					X																	54020323		2203	4298	6501	54037048	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1445A>G	X.37:g.54020323T>C	ENSP00000350676:p.Gln482Arg		54037048	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.05|14.05	2.419692|2.419692	0.42918|0.42918	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000322659|ENST00000396282	T;T;T|.	0.39229|.	1.09;1.09;1.09|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.150255|.	0.45867|.	D|.	0.000330|.	T|T	0.50548|0.50548	0.1622|0.1622	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;B|.	0.45283|.	0.855;0.011|.	B;B|.	0.39258|.	0.295;0.008|.	T|T	0.48736|0.48736	-0.9009|-0.9009	10|5	0.15499|.	T|.	0.54|.	-7.8793|-7.8793	14.4309|14.4309	0.67249|0.67249	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	446;482|.	Q9UPP1-2;Q9UPP1|.	.;PHF8_HUMAN|.	R|G	482;446;446|350	ENSP00000350676:Q482R;ENSP00000338868:Q446R;ENSP00000319473:Q446R|.	ENSP00000319473:Q446R|.	Q|R	-|-	2|1	0|2	PHF8|PHF8	54037048|54037048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.426000|5.426000	0.66476|0.66476	2.054000|2.054000	0.61138|0.61138	0.481000|0.481000	0.45027|0.45027	CAG|AGA		0.512	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		C	54020323	T	C	54020323	3	2	52	1	0	0	0	0	1	0	0	0	11840	1580	55	4	1947	4	PHF8	23	54020323	Missense_Mutation	SNP	T	TCGA-09-2044-01B-01W-0799-08	2380717	54020323	101250237	85	2599											
FAM199X	139231	broad.mit.edu	37	X	103434385	103434385	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chrX:103434385T>C	ENST00000493442.1	+	6	1259	c.1093T>C	c.(1093-1095)Ttc>Ctc	p.F365L	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	365								p.F365L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CAGTGGGCTCTTCCTTAACGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	X											128	110	116					X																	103434385		2203	4300	6503	103321041	SO:0001583	missense	139231			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.1093T>C	X.37:g.103434385T>C	ENSP00000417581:p.Phe365Leu		103321041	Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512847	0.85389	.	.	ENSG00000123575	ENST00000493442	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.64997	1.995	0.80722	D	1	D;P	0.58268	0.982;0.954	D;D	0.68943	0.961;0.916	T	0.75031	-0.3461	8	.	.	.	-7.5784	13.353	0.60613	0.0:0.0:0.0:1.0	.	322;365	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	L	365	.	.	F	+	1	0	FAM199X	103321041	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.993000	0.88291	1.815000	0.52974	0.481000	0.45027	TTC		0.498	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		C	103434385	T	C	103434385	3	2	52	1	0	0	0	0	1	0	0	0	5530	1609	56	4	1115	4	FAM199X	23	103434385	Missense_Mutation	SNP	T	TCGA-09-2044-01B-01W-0799-08	49414062	103434385	51836175	86	2600											
KIAA1210	57481	broad.mit.edu	37	X	118228015	118228015	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2044-01B-01W-0799-08	TCGA-09-2044-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	39544e41-a762-442a-93e9-5382dbc7adc2	fcbb2210-a077-4fd2-aee8-2e29b3e9ecbd	g.chrX:118228015T>A	ENST00000402510.2	-	9	1310	c.1311A>T	c.(1309-1311)ttA>ttT	p.L437F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	437										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGGATCCCTCTAAAATACCCT	0.478																																																0			X											86	77	80					X																	118228015		1869	4096	5965	118112043	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1311A>T	X.37:g.118228015T>A	ENSP00000384670:p.Leu437Phe		118112043	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	T	6.611	0.481139	0.12581	.	.	ENSG00000250423	ENST00000402510	T	0.10668	2.85	3.31	-2.97	0.05530	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.20955	0.032	T	0.39354	-0.9618	9	0.36615	T	0.2	.	1.3916	0.02252	0.1666:0.1169:0.3653:0.3511	.	437	Q9ULL0	K1210_HUMAN	F	437	ENSP00000384670:L437F	ENSP00000384670:L437F	L	-	3	2	RP13-347D8.6	118112043	0.036000	0.19791	0.000000	0.03702	0.019000	0.09904	0.144000	0.16135	-0.884000	0.03976	0.478000	0.44815	TTA		0.478	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		A	118228015	T	A	118228015	3	1	52	1	0	0	0	0	1	0	0	0	8214	1519	53	5	3842	5	KIAA1210	23	118228015	Missense_Mutation	SNP	T	TCGA-09-2044-01B-01W-0799-08	14793630	118228015	37042545	87	2601											
RERE	473	broad.mit.edu	37	1	8418949	8418949	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr1:8418949G>A	ENST00000337907.3	-	21	4280	c.3646C>T	c.(3646-3648)Cgc>Tgc	p.R1216C	RERE_ENST00000476556.1_Missense_Mutation_p.R662C|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.R1216C|RERE_ENST00000377464.1_Missense_Mutation_p.R948C	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1216					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1216C(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCACTGAGGCGACCTTCATGC	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											76	74	75					1																	8418949		2203	4300	6503	8341536	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3646C>T	1.37:g.8418949G>A	ENSP00000338629:p.Arg1216Cys		8341536	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504927	0.44558	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.50813	0.73;0.74;0.73	5.46	5.46	0.80206	.	.	.	.	.	T	0.68760	0.3036	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70421	-0.4876	9	0.72032	D	0.01	-24.1297	18.6671	0.91495	0.0:0.0:1.0:0.0	.	1216	Q9P2R6	RERE_HUMAN	C	1216;948;662;1216	ENSP00000338629:R1216C;ENSP00000366684:R948C;ENSP00000383700:R1216C	ENSP00000338629:R1216C	R	-	1	0	RERE	8341536	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	4.128000	0.57951	2.713000	0.92767	0.655000	0.94253	CGC		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			A	8418949	G	A	8418949	3	1	53	1	0	0	0	0	1	0	0	0	13234	1058	37	1	1070	1	RERE	1	8418949	Missense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08		8418949	240831672	1	2602											
MOV10	4343	broad.mit.edu	37	1	113217644	113217644	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr1:113217644C>G	ENST00000413052.2	+	2	500	c.110C>G	c.(109-111)aCc>aGc	p.T37S	MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.T37S|MOV10_ENST00000544796.1_Missense_Mutation_p.T37S|MOV10_ENST00000357443.2_Missense_Mutation_p.T37S|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	37					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T37S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CGGCTGCGGACCATTTATAAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	1											39	47	44					1																	113217644		2203	4300	6503	113019167	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.110C>G	1.37:g.113217644C>G	ENSP00000399797:p.Thr37Ser		113019167	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	9.829	1.188002	0.21954	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000544796;ENST00000285733;ENST00000357443;ENST00000369648	D;D;D	0.91237	-2.81;-2.81;-2.81	4.39	1.12	0.20585	.	0.431594	0.24846	N	0.035139	T	0.61862	0.2381	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.09377	0.004;0.001	T	0.53493	-0.8431	10	0.33141	T	0.24	-10.6263	0.819	0.01108	0.2487:0.3923:0.1557:0.2033	.	37;37	Q9H8T8;Q9HCE1	.;MOV10_HUMAN	S	37;37;37;37;37;10	ENSP00000399797:T37S;ENSP00000358659:T37S;ENSP00000350028:T37S	ENSP00000285733:T37S	T	+	2	0	MOV10	113019167	0.001000	0.12720	0.560000	0.28344	0.996000	0.88848	-0.621000	0.05559	0.547000	0.28938	0.561000	0.74099	ACC		0.667	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		G	113217644	C	G	113217644	3	3	53	1	0	0	0	0	1	0	0	0	9718	507	18	3	112	3	MOV10	1	113217644	Missense_Mutation	SNP	C	TCGA-09-2045-01A-01W-0799-08	104798695	113217644	136032977	2	2603											
FSHR	2492	broad.mit.edu	37	2	49190914	49190914	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr2:49190914T>A	ENST00000406846.2	-	10	1165	c.1046A>T	c.(1045-1047)aAg>aTg	p.K349M	FSHR_ENST00000304421.4_Missense_Mutation_p.K323M|FSHR_ENST00000346173.3_Missense_Mutation_p.K287M|FSHR_ENST00000541117.1_Missense_Mutation_p.K85M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	349					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.K349M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGCATCTGGCTTAGGGGAGCA	0.458									Gonadal Dysgenesis, 46 XX																																							1	Substitution - Missense(1)	ovary(1)	2											274	229	244					2																	49190914		2203	4300	6503	49044418	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1046A>T	2.37:g.49190914T>A	ENSP00000384708:p.Lys349Met		49044418	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521958	0.44866	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.13	5.13	0.70059	Gonadotropin hormone receptor, transmembrane domain (1);	0.224629	0.45361	D	0.000362	T	0.74253	0.3692	L	0.57536	1.79	0.37736	D	0.925438	D;D;D	0.62365	0.984;0.991;0.984	P;P;P	0.62298	0.843;0.9;0.843	T	0.76889	-0.2792	9	.	.	.	.	10.4335	0.44421	0.0:0.0:0.1634:0.8366	.	323;287;349	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	M	349;287;323;85	ENSP00000384708:K349M;ENSP00000333908:K287M;ENSP00000306780:K323M;ENSP00000444172:K85M	.	K	-	2	0	FSHR	49044418	0.607000	0.26958	0.999000	0.59377	0.939000	0.58152	1.080000	0.30779	2.159000	0.67721	0.459000	0.35465	AAG		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			A	49190914	T	A	49190914	3	1	53	1	0	0	0	0	1	0	0	0	6073	1609	56	5	1045	5	FSHR	2	49190914	Missense_Mutation	SNP	T	TCGA-09-2045-01A-01W-0799-08		49190914	194008459	3	2604											
RETSAT	54884	broad.mit.edu	37	2	85578014	85578014	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr2:85578014A>T	ENST00000295802.4	-	3	598	c.486T>A	c.(484-486)aaT>aaA	p.N162K	RETSAT_ENST00000263854.6_Missense_Mutation_p.N162K|RETSAT_ENST00000457495.2_Missense_Mutation_p.N101K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	162					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.N162K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCTTTCGGCCATTGGGCCCTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											92	85	87					2																	85578014		2203	4300	6503	85431525	SO:0001583	missense	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.486T>A	2.37:g.85578014A>T	ENSP00000295802:p.Asn162Lys		85431525	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.778|8.778	0.927463|0.927463	0.18056|0.18056	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000409984|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T;T	.|0.58652	.|0.32;0.32;0.32	5.92|5.92	2.32|2.32	0.28847|0.28847	.|.	.|0.873715	.|0.10469	.|N	.|0.671008	T|T	0.45716|0.45716	0.1356|0.1356	L|L	0.45581|0.45581	1.43|1.43	0.19775|0.19775	N|N	0.999952|0.999952	.|B;B	.|0.15930	.|0.008;0.015	.|B;B	.|0.13407	.|0.007;0.009	T|T	0.35699|0.35699	-0.9778|-0.9778	5|10	.|0.35671	.|T	.|0.21	0.0183|0.0183	3.6884|3.6884	0.08336|0.08336	0.6061:0.0:0.2426:0.1513|0.6061:0.0:0.2426:0.1513	.|.	.|101;162	.|G5E9N3;Q6NUM9	.|.;RETST_HUMAN	K|K	101|162;162;101	.|ENSP00000295802:N162K;ENSP00000263854:N162K;ENSP00000405040:N101K	.|ENSP00000263854:N162K	M|N	-|-	2|3	0|2	RETSAT|RETSAT	85431525|85431525	0.000000|0.000000	0.05858|0.05858	0.553000|0.553000	0.28255|0.28255	0.643000|0.643000	0.38383|0.38383	-0.559000|-0.559000	0.05971|0.05971	0.500000|0.500000	0.27991|0.27991	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.507	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		T	85578014	A	T	85578014	3	4	53	1	0	0	0	0	1	0	0	0	13241	214	8	5	1382	5	RETSAT	2	85578014	Missense_Mutation	SNP	A	TCGA-09-2045-01A-01W-0799-08	36387100	85578014	157621359	4	2605											
ATIC	471	broad.mit.edu	37	2	216177302	216177302	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr2:216177302C>T	ENST00000236959.9	+	2	427	c.101C>T	c.(100-102)tCc>tTc	p.S34F	ATIC_ENST00000435675.1_Missense_Mutation_p.S33F|ATIC_ENST00000540518.1_5'UTR	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	34					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.S34F(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTGGTCGCTTCCGGAGGGACT	0.468			T	ALK	ALCL																																		Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	1	Substitution - Missense(1)	ovary(1)	2											90	89	89					2																	216177302		2203	4300	6503	215885547	SO:0001583	missense	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.101C>T	2.37:g.216177302C>T	ENSP00000236959:p.Ser34Phe		215885547	A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140011	0.94560	.	.	ENSG00000138363	ENST00000236959;ENST00000435675	D;D	0.83419	-1.72;-1.72	5.41	5.41	0.78517	Methylglyoxal synthase-like domain (4);	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93830	0.7127	10	0.87932	D	0	-14.0384	18.8107	0.92057	0.0:1.0:0.0:0.0	.	33;34	E9PBU3;P31939	.;PUR9_HUMAN	F	34;33	ENSP00000236959:S34F;ENSP00000415935:S33F	ENSP00000236959:S34F	S	+	2	0	ATIC	215885547	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	6.430000	0.73391	2.544000	0.85801	0.655000	0.94253	TCC		0.468	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		T	216177302	C	T	216177302	3	4	53	1	0	0	0	0	1	0	0	0	1105	855	30	2	107	2	ATIC	2	216177302	Missense_Mutation	SNP	C	TCGA-09-2045-01A-01W-0799-08	130599288	216177302	27022071	5	2606											
ACVR2B	93	broad.mit.edu	37	3	38518817	38518817	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr3:38518817A>T	ENST00000352511.4	+	2	564	c.92A>T	c.(91-93)tAc>tTc	p.Y31F		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	31					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.Y31F(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GAGTGCATCTACTACAACGCC	0.647																																																1	Substitution - Missense(1)	ovary(1)	3											64	62	62					3																	38518817		2203	4300	6503	38493821	SO:0001583	missense	93			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.92A>T	3.37:g.38518817A>T	ENSP00000340361:p.Tyr31Phe		38493821	Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517756	0.44763	.	.	ENSG00000114739	ENST00000352511	D	0.98234	-4.81	4.47	4.47	0.54385	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.93249	0.7849	N	0.11756	0.17	0.80722	D	1	B	0.12013	0.005	B	0.20577	0.03	D	0.89516	0.3775	10	0.02654	T	1	.	13.9296	0.63986	1.0:0.0:0.0:0.0	.	31	Q13705	AVR2B_HUMAN	F	31	ENSP00000340361:Y31F	ENSP00000340361:Y31F	Y	+	2	0	ACVR2B	38493821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.124000	0.77185	1.879000	0.54435	0.533000	0.62120	TAC		0.647	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		T	38518817	A	T	38518817	3	4	53	1	0	0	0	0	1	0	0	0	224	391	14	5	98	5	ACVR2B	3	38518817	Missense_Mutation	SNP	A	TCGA-09-2045-01A-01W-0799-08		38518817	159503613	6	2607											
KIAA1524	57650	broad.mit.edu	37	3	108271110	108271110	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr3:108271110C>T	ENST00000295746.8	-	20	2594	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E681K	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	840					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E840K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTATCTGTTCTGTTCTGCTT	0.303																																																1	Substitution - Missense(1)	ovary(1)	3											191	180	184					3																	108271110		2200	4298	6498	109753800	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2518G>A	3.37:g.108271110C>T	ENSP00000295746:p.Glu840Lys		109753800	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155406	0.78114	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.29917	3.63;1.55	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.66939	2.045	0.54753	D	0.999981	P	0.51653	0.947	P	0.49477	0.612	T	0.47071	-0.9145	10	0.72032	D	0.01	-1.9254	15.1974	0.73104	0.0:0.859:0.141:0.0	.	840	Q8TCG1	CIP2A_HUMAN	K	681;840	ENSP00000419487:E681K;ENSP00000295746:E840K	ENSP00000295746:E840K	E	-	1	0	KIAA1524	109753800	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.005000	0.63972	2.238000	0.73509	0.557000	0.71058	GAA		0.303	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		T	108271110	C	T	108271110	3	4	53	1	0	0	0	0	1	0	0	0	8239	922	32	2	207	2	KIAA1524	3	108271110	Missense_Mutation	SNP	C	TCGA-09-2045-01A-01W-0799-08	69752293	108271110	89751320	7	2608											
STXBP5L	9515	broad.mit.edu	37	3	120976115	120976115	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr3:120976115T>A	ENST00000273666.6	+	17	2038	c.1767T>A	c.(1765-1767)agT>agA	p.S589R	STXBP5L_ENST00000497029.1_Missense_Mutation_p.S589R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S589R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S589R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S589R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	589					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S589R(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTTCAAGGAGTCTTTCTGGGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											112	108	110					3																	120976115		1851	4086	5937	122458805	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1767T>A	3.37:g.120976115T>A	ENSP00000273666:p.Ser589Arg		122458805	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	9.386	1.074195	0.20227	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.36157	1.95;1.95;1.74;1.27;1.76;1.96	5.49	5.49	0.81192	WD40 repeat-like-containing domain (1);	0.251101	0.47852	D	0.000216	T	0.24547	0.0595	L	0.43152	1.355	0.42428	D	0.992664	P;P	0.38922	0.454;0.651	B;B	0.32805	0.115;0.153	T	0.06716	-1.0811	10	0.18710	T	0.47	-0.0099	8.0933	0.30813	0.0:0.1562:0.0:0.8438	.	589;589	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	589	ENSP00000273666:S589R;ENSP00000420019:S589R;ENSP00000419627:S589R;ENSP00000420287:S589R;ENSP00000420666:S589R;ENSP00000420167:S589R	ENSP00000273666:S589R	S	+	3	2	STXBP5L	122458805	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.445000	0.35079	2.205000	0.71048	0.477000	0.44152	AGT		0.413	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			A	120976115	T	A	120976115	3	1	53	1	0	0	0	0	1	0	0	0	15359	1664	58	5	1829	5	STXBP5L	3	120976115	Missense_Mutation	SNP	T	TCGA-09-2045-01A-01W-0799-08	12705005	120976115	77046315	8	2609											
LAMP3	27074	broad.mit.edu	37	3	182872086	182872086	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr3:182872086A>G	ENST00000265598.3	-	2	398	c.143T>C	c.(142-144)aTa>aCa	p.I48T	LAMP3_ENST00000466939.1_Missense_Mutation_p.I24T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	48					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.I48T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTTTTTTTATGTCCTGTAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											202	184	190					3																	182872086		2203	4300	6503	184354780	SO:0001583	missense	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.143T>C	3.37:g.182872086A>G	ENSP00000265598:p.Ile48Thr		184354780	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	A	0.743	-0.775624	0.02951	.	.	ENSG00000078081	ENST00000265598;ENST00000466939;ENST00000476015;ENST00000470251	T;T;T;T	0.36520	1.83;1.85;1.25;1.28	4.73	0.36	0.16097	.	0.990321	0.08215	N	0.980033	T	0.11623	0.0283	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	10	0.07482	T	0.82	2.2098	8.2754	0.31868	0.0943:0.5046:0.4011:0.0	.	48	Q9UQV4	LAMP3_HUMAN	T	48;24;48;24	ENSP00000265598:I48T;ENSP00000418912:I24T;ENSP00000419059:I48T;ENSP00000420589:I24T	ENSP00000265598:I48T	I	-	2	0	LAMP3	184354780	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.539000	0.06113	-0.116000	0.11893	-0.313000	0.08912	ATA		0.428	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			G	182872086	A	G	182872086	3	3	53	1	0	0	0	0	1	0	0	0	8619	449	16	4	1127	4	LAMP3	3	182872086	Missense_Mutation	SNP	A	TCGA-09-2045-01A-01W-0799-08	61895971	182872086	15150344	9	2610											
C3orf43	255798	broad.mit.edu	37	3	196235129	196235129	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr3:196235129G>A	ENST00000397537.2	-	3	430	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	92						integral component of membrane (GO:0016021)		p.L92F(1)									AGCTTCTCAAGCACACGAGTA	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											109	106	107					3																	196235129		1910	4139	6049	197719526	SO:0001583	missense	255798			AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 43"	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.274C>T	3.37:g.196235129G>A	ENSP00000380671:p.Leu92Phe		197719526	B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	CCDS43192.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281889	0.59758	.	.	ENSG00000214097	ENST00000397537	T	0.45276	0.9	5.46	3.64	0.41730	.	.	.	.	.	T	0.43478	0.1249	L	0.32530	0.975	0.25686	N	0.985741	P;P	0.44429	0.835;0.835	P;P	0.53102	0.718;0.718	T	0.21621	-1.0240	9	0.52906	T	0.07	-0.024	7.8246	0.29307	0.0841:0.3111:0.6048:0.0	.	92;84	Q147U7;E9PGG7	CC043_HUMAN;.	F	92	ENSP00000380671:L92F	ENSP00000380671:L92F	L	-	1	0	C3orf43	197719526	0.939000	0.31865	0.802000	0.32245	0.984000	0.73092	1.524000	0.35942	0.650000	0.30769	0.655000	0.94253	CTT		0.413	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		A	196235129	G	A	196235129	3	1	53	1	0	0	0	0	1	0	0	0	2230	971	34	2	374	2	C3orf43	3	196235129	Missense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08	13363043	196235129	1787301	10	2611											
PPP2R2C	5522	broad.mit.edu	37	4	6374374	6374374	+	Silent	SNP	G	G	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr4:6374374G>T	ENST00000382599.4	-	5	717	c.501C>A	c.(499-501)atC>atA	p.I167I	PPP2R2C_ENST00000507294.1_Silent_p.I160I|PPP2R2C_ENST00000335585.5_Silent_p.I167I|PPP2R2C_ENST00000506140.1_Silent_p.I160I|PPP2R2C_ENST00000515571.1_Silent_p.I150I|PPP2R2C_ENST00000314348.8_5'UTR			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	167					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.I167I(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CATTGGCAAAGATCCTCCGAG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	4											213	176	188					4																	6374374		2203	4300	6503	6425275	SO:0001819	synonymous_variant	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.501C>A	4.37:g.6374374G>T			6425275	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37																																																																																					0.592	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		T	6374374	G	T	6374374	2	4	53	1	0	0	0	0	0	0	0	1	12389	932	33	3		3	PPP2R2C	4	6374374	Silent	SNP	G	TCGA-09-2045-01A-01W-0799-08		6374374	184779902	11	2612											
ANAPC4	29945	broad.mit.edu	37	4	25392590	25392590	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr4:25392590G>C	ENST00000315368.3	+	9	800	c.658G>C	c.(658-660)Gtc>Ctc	p.V220L	ANAPC4_ENST00000510092.1_Missense_Mutation_p.V220L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.V220L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				ATTATCAGTGGTCACAGAAGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											183	180	181					4																	25392590		2203	4299	6502	25001688	SO:0001583	missense	29945			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.658G>C	4.37:g.25392590G>C	ENSP00000318775:p.Val220Leu		25001688	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139185	0.56936	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.29142	1.58;1.58	5.74	4.79	0.61399	WD40 repeat-like-containing domain (1);	0.099806	0.64402	D	0.000002	T	0.19565	0.0470	L	0.42245	1.32	0.37963	D	0.933037	B;B;B	0.34372	0.208;0.144;0.451	B;B;B	0.34301	0.179;0.021;0.07	T	0.08785	-1.0705	10	0.02654	T	1	-17.3294	6.9361	0.24466	0.1959:0.0:0.8041:0.0	.	220;220;220	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	L	220	ENSP00000318775:V220L;ENSP00000426654:V220L	ENSP00000318775:V220L	V	+	1	0	ANAPC4	25001688	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.991000	0.63883	2.726000	0.93360	0.585000	0.79938	GTC		0.348	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		C	25392590	G	C	25392590	3	2	53	1	0	0	0	0	1	0	0	0	604	1261	44	3	688	3	ANAPC4	4	25392590	Missense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08	19018216	25392590	165761686	12	2613											
EPHA5	2044	broad.mit.edu	37	4	66217170	66217170	+	Silent	SNP	T	T	C			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr4:66217170T>C	ENST00000273854.3	-	14	3045	c.2445A>G	c.(2443-2445)aaA>aaG	p.K815K	EPHA5_ENST00000354839.4_Silent_p.K793K|EPHA5_ENST00000432638.2_Silent_p.K652K|EPHA5_ENST00000511294.1_Silent_p.K816K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	815	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.K815K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGTCAGACACTTTGCACACAA	0.458										TSP Lung(17;0.13)																																						1	Substitution - coding silent(1)	ovary(1)	4											139	120	126					4																	66217170		2203	4300	6503	65899765	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2445A>G	4.37:g.66217170T>C			65899765	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				0.458	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		C	66217170	T	C	66217170	2	2	53	1	0	0	0	0	0	0	0	1	5170	1606	56	4		4	EPHA5	4	66217170	Silent	SNP	T	TCGA-09-2045-01A-01W-0799-08	40824580	66217170	124937106	13	2614											
CCT5	22948	broad.mit.edu	37	5	10263335	10263335	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr5:10263335T>G	ENST00000280326.4	+	10	1827	c.1407T>G	c.(1405-1407)aaT>aaG	p.N469K	CCT5_ENST00000515676.1_Missense_Mutation_p.N431K|CCT5_ENST00000503026.1_Missense_Mutation_p.N448K|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Missense_Mutation_p.N376K|CCT5_ENST00000515390.1_Missense_Mutation_p.N414K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	469					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)	p.N469K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GTGGCATGAATCCCATCCAGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											110	95	100					5																	10263335		2203	4300	6503	10316335	SO:0001583	missense	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1407T>G	5.37:g.10263335T>G	ENSP00000280326:p.Asn469Lys		10316335	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613251	0.66672	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.63	-7.49	0.01355	.	0.000000	0.85682	D	0.000000	T	0.78585	0.4306	M	0.80422	2.495	0.58432	D	0.99999	B;B;P;P	0.37688	0.231;0.231;0.605;0.605	B;B;B;B	0.37989	0.262;0.192;0.214;0.214	T	0.74833	-0.3530	10	0.72032	D	0.01	-40.4416	17.9574	0.89073	0.0:0.68:0.0:0.32	.	376;414;469;469	B4DYD8;E7ENZ3;A8K2X8;P48643	.;.;.;TCPE_HUMAN	K	469;448;414;442;431;376	ENSP00000280326:N469K;ENSP00000423318:N448K;ENSP00000426923:N414K;ENSP00000427297:N431K;ENSP00000423052:N376K	ENSP00000280326:N469K	N	+	3	2	CCT5	10316335	0.562000	0.26586	0.757000	0.31301	0.971000	0.66376	-0.259000	0.08721	-1.564000	0.01678	-0.379000	0.06801	AAT		0.542	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			G	10263335	T	G	10263335	3	3	53	1	0	0	0	0	1	0	0	0	2956	1432	50	5	1445	5	CCT5	5	10263335	Missense_Mutation	SNP	T	TCGA-09-2045-01A-01W-0799-08		10263335	170651925	14	2615											
DNAH5	1767	broad.mit.edu	37	5	13770873	13770873	+	Missense_Mutation	SNP	C	C	T	rs573476401	byFrequency	TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr5:13770873C>T	ENST00000265104.4	-	56	9694	c.9590G>A	c.(9589-9591)cGg>cAg	p.R3197Q	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3197	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3197Q(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCCAGGGTCCGCACCTCCAC	0.458									Kartagener syndrome				T|||	2	0.000399361	0	0	5008	,	,		19892	0		0	False		,,,				2504	0.002															2	Substitution - Missense(2)	ovary(2)	5											84	78	80					5																	13770873		2203	4300	6503	13823873	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9590G>A	5.37:g.13770873C>T	ENSP00000265104:p.Arg3197Gln		13823873	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	8.380	0.837376	0.16891	.	.	ENSG00000039139	ENST00000265104	T	0.21543	2.0	5.81	3.43	0.39272	.	0.292466	0.38605	N	0.001629	T	0.04588	0.0125	N	0.00277	-1.72	0.21579	N	0.999637	B	0.02656	0.0	B	0.01281	0.0	T	0.40683	-0.9550	10	0.12430	T	0.62	.	9.7652	0.40557	0.0:0.1948:0.0:0.8052	.	3197	Q8TE73	DYH5_HUMAN	Q	3197	ENSP00000265104:R3197Q	ENSP00000265104:R3197Q	R	-	2	0	DNAH5	13823873	1.000000	0.71417	0.996000	0.52242	0.720000	0.41350	1.834000	0.39171	0.131000	0.18576	-0.254000	0.11334	CGG		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13770873	C	T	13770873	3	4	53	1	0	0	0	0	1	0	0	0	4604	652	23	1	4380	1	DNAH5	5	13770873	Missense_Mutation	SNP	C	TCGA-09-2045-01A-01W-0799-08	3507538	13770873	167144387	15	2616											
CUL9	23113	broad.mit.edu	37	6	43152469	43152469	+	Missense_Mutation	SNP	G	G	A	rs375566962		TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr6:43152469G>A	ENST00000252050.4	+	2	505	c.421G>A	c.(421-423)Gct>Act	p.A141T	CUL9_ENST00000372647.2_Missense_Mutation_p.A141T|CUL9_ENST00000354495.3_Missense_Mutation_p.A141T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	141					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.A141T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTCACGGCCGCTGTGCTTCA	0.627																																																1	Substitution - Missense(1)	ovary(1)	6						G	THR/ALA	0,4406		0,0,2203	65	65	65		421	0.9	0.8	6		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUL9	NM_015089.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	141/2518	43152469	1,13005	2203	4300	6503	43260447	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.421G>A	6.37:g.43152469G>A	ENSP00000252050:p.Ala141Thr		43260447	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003242	0.35320	0.0	1.16E-4	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72835	-0.69;1.02;1.02	3.91	0.87	0.19102	Armadillo-like helical (1);	0.497929	0.22699	N	0.056703	T	0.25568	0.0622	N	0.14661	0.345	0.22842	N	0.998666	B;B;B	0.12013	0.001;0.003;0.005	B;B;B	0.08055	0.0;0.001;0.003	T	0.16305	-1.0407	10	0.42905	T	0.14	-3.0489	4.0476	0.09779	0.2121:0.0:0.4312:0.3567	.	141;141;141	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	T	141	ENSP00000252050:A141T;ENSP00000346490:A141T;ENSP00000361730:A141T	ENSP00000252050:A141T	A	+	1	0	CUL9	43260447	0.682000	0.27624	0.839000	0.33178	0.637000	0.38172	1.112000	0.31172	0.429000	0.26202	0.313000	0.20887	GCT		0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43152469	G	A	43152469	3	1	53	1	0	0	0	0	1	0	0	0	4061	1087	38	1	423	1	CUL9	6	43152469	Missense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08		43152469	127962598	16	2617											
ABCC10	89845	broad.mit.edu	37	6	43402564	43402564	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr6:43402564G>A	ENST00000372530.4	+	4	1801	c.1586G>A	c.(1585-1587)gGg>gAg	p.G529E	ABCC10_ENST00000244533.3_Missense_Mutation_p.G486E|ABCC10_ENST00000443426.2_3'UTR	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	529	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.G486E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTCATGGGGCACCAGCTC	0.562																																																1	Substitution - Missense(1)	ovary(1)	6											81	78	79					6																	43402564		2203	4300	6503	43510542	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1586G>A	6.37:g.43402564G>A	ENSP00000361608:p.Gly529Glu		43510542	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653905	0.88056	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.94330	-3.4;-2.87;-2.87	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.054513	0.64402	D	0.000001	D	0.96716	0.8928	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.78314	0.976;0.991	D	0.96165	0.9118	10	0.59425	D	0.04	-21.9244	20.1379	0.98040	0.0:0.0:1.0:0.0	.	486;529	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	E	85;529;486	ENSP00000361593:G85E;ENSP00000361608:G529E;ENSP00000244533:G486E	ENSP00000244533:G486E	G	+	2	0	ABCC10	43510542	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.862000	0.99564	2.779000	0.95612	0.655000	0.94253	GGG		0.562	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		A	43402564	G	A	43402564	3	1	53	1	0	0	0	0	1	0	0	0	50	1232	43	2	1463	2	ABCC10	6	43402564	Missense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08	250095	43402564	127712503	17	2618											
ZNF746	155061	broad.mit.edu	37	7	149174723	149174723	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr7:149174723C>A	ENST00000340622.3	-	5	924	c.644G>T	c.(643-645)gGg>gTg	p.G215V	ZNF746_ENST00000458143.2_Missense_Mutation_p.G215V			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	215					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.G215V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGCTCCTCCCCAATATCTGG	0.632																																																1	Substitution - Missense(1)	ovary(1)	7											45	48	47					7																	149174723		2203	4300	6503	148805656	SO:0001583	missense	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.644G>T	7.37:g.149174723C>A	ENSP00000345140:p.Gly215Val		148805656	A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204656	0.79127	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.09445	2.98;3.07	4.94	4.05	0.47172	.	0.137643	0.33290	N	0.005073	T	0.19046	0.0457	L	0.40543	1.245	0.58432	D	0.999997	D;D	0.71674	0.998;0.997	D;D	0.69654	0.965;0.923	T	0.00587	-1.1657	10	0.38643	T	0.18	-23.0581	8.2504	0.31715	0.0:0.8939:0.0:0.1061	.	215;215	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	V	215	ENSP00000345140:G215V;ENSP00000395007:G215V	ENSP00000345140:G215V	G	-	2	0	ZNF746	148805656	0.990000	0.36364	0.997000	0.53966	0.979000	0.70002	2.021000	0.41020	2.286000	0.76751	0.563000	0.77884	GGG		0.632	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		A	149174723	C	A	149174723	3	1	53	1	0	0	0	0	1	0	0	0	18129	623	22	3	1305	3	ZNF746	7	149174723	Missense_Mutation	SNP	C	TCGA-09-2045-01A-01W-0799-08		149174723	9963940	18	2619											
DLC1	10395	broad.mit.edu	37	8	12960305	12960305	+	Silent	SNP	C	C	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr8:12960305C>T	ENST00000276297.4	-	8	1969	c.1560G>A	c.(1558-1560)cgG>cgA	p.R520R	DLC1_ENST00000520226.1_Silent_p.R9R|DLC1_ENST00000512044.2_Silent_p.R117R|DLC1_ENST00000358919.2_Silent_p.R83R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	520					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R520R(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCACTCGTTTCCGATGAGGAC	0.368																																																1	Substitution - coding silent(1)	ovary(1)	8											187	181	183					8																	12960305		2203	4300	6503	13004676	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1560G>A	8.37:g.12960305C>T			13004676	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.368	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12960305	C	T	12960305	2	4	53	1	0	0	0	0	0	0	0	1	4550	842	30	2		2	DLC1	8	12960305	Silent	SNP	C	TCGA-09-2045-01A-01W-0799-08		12960305	133403717	19	2620											
INTS10	55174	broad.mit.edu	37	8	19675162	19675162	+	Silent	SNP	A	A	G	rs375410459		TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr8:19675162A>G	ENST00000397977.3	+	1	512	c.114A>G	c.(112-114)gcA>gcG	p.A38A	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	38					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A38A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCTACCCGGCAGACTTTAACA	0.701																																																1	Substitution - coding silent(1)	ovary(1)	8						A		1,4089		0,1,2044	16	22	20		114	-1.9	0.9	8		20	0,8394		0,0,4197	no	coding-synonymous	INTS10	NM_018142.2		0,1,6241	GG,GA,AA		0.0,0.0244,0.0080		38/711	19675162	1,12483	2045	4197	6242	19719442	SO:0001819	synonymous_variant	55174			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.114A>G	8.37:g.19675162A>G			19719442	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	CCDS6011.2																																																																																				0.701	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		G	19675162	A	G	19675162	2	3	53	1	0	0	0	0	0	0	0	1	7776	175	7	4		4	INTS10	8	19675162	Silent	SNP	A	TCGA-09-2045-01A-01W-0799-08	6714857	19675162	126688860	20	2621											
DMRT1	1761	broad.mit.edu	37	9	894144	894144	+	Silent	SNP	T	T	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr9:894144T>A	ENST00000382276.3	+	3	920	c.771T>A	c.(769-771)ctT>ctA	p.L257L	DMRT1_ENST00000569227.1_Silent_p.L99L	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	257					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L257L(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGAACAGCCTTCGGGGCCTCC	0.542											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	9											66	71	69					9																	894144		2203	4300	6503	884144	SO:0001819	synonymous_variant	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.771T>A	9.37:g.894144T>A		591	884144	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Silent	SNP	ENST00000382276.3	37	CCDS6442.1																																																																																				0.542	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		A	894144	T	A	894144	2	1	53	1	0	0	0	0	0	0	0	1	4585	1770	62	5		5	DMRT1	9	894144	Silent	SNP	T	TCGA-09-2045-01A-01W-0799-08		894144	140319287	21	2622											
TRUB2	26995	broad.mit.edu	37	9	131071899	131071899	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr9:131071899C>T	ENST00000372890.4	-	8	1259	c.926G>A	c.(925-927)aGt>aAt	p.S309N	TRUB2_ENST00000460320.1_5'Flank|TRUB2_ENST00000546104.1_Missense_Mutation_p.S253N	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	309					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.S309N(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCATCCCGGACTGGGGAGCTG	0.652																																																1	Substitution - Missense(1)	ovary(1)	9											37	40	39					9																	131071899		2203	4300	6503	130111720	SO:0001583	missense	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.926G>A	9.37:g.131071899C>T	ENSP00000361982:p.Ser309Asn		130111720	B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241455	0.22711	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.18338	2.22;2.22	5.38	-0.185	0.13276	.	1.410880	0.03721	N	0.251841	T	0.12774	0.0310	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25363	-1.0134	10	0.17832	T	0.49	0.5709	1.297	0.02071	0.2469:0.4118:0.1207:0.2206	.	309	O95900	TRUB2_HUMAN	N	309;253	ENSP00000361982:S309N;ENSP00000438084:S253N	ENSP00000361982:S309N	S	-	2	0	TRUB2	130111720	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.570000	0.05895	0.048000	0.15891	0.561000	0.74099	AGT		0.652	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		T	131071899	C	T	131071899	3	4	53	1	0	0	0	0	1	0	0	0	16603	565	20	2	73	2	TRUB2	9	131071899	Missense_Mutation	SNP	C	TCGA-09-2045-01A-01W-0799-08	130177755	131071899	10141532	22	2623											
PCDH15	65217	broad.mit.edu	37	10	56077158	56077158	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr10:56077158G>T	ENST00000320301.6	-	8	1143	c.749C>A	c.(748-750)aCt>aAt	p.T250N	PCDH15_ENST00000395430.1_Missense_Mutation_p.T250N|PCDH15_ENST00000373957.3_Missense_Mutation_p.T228N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.T250N|PCDH15_ENST00000395432.2_Missense_Mutation_p.T213N|PCDH15_ENST00000414778.1_Missense_Mutation_p.T255N|PCDH15_ENST00000373965.2_Missense_Mutation_p.T250N|PCDH15_ENST00000373955.1_Missense_Mutation_p.T250N|PCDH15_ENST00000361849.3_Missense_Mutation_p.T250N|PCDH15_ENST00000395438.1_Missense_Mutation_p.T250N|PCDH15_ENST00000395446.1_Missense_Mutation_p.T250N|PCDH15_ENST00000395445.1_Missense_Mutation_p.T250N|PCDH15_ENST00000395442.1_Missense_Mutation_p.T250N|PCDH15_ENST00000395433.1_Missense_Mutation_p.T228N|PCDH15_ENST00000437009.1_Missense_Mutation_p.T250N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	250	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T250N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACTGTGAGAGTGGTGGTGGT	0.463										HNSCC(58;0.16)																																						1	Substitution - Missense(1)	ovary(1)	10											186	140	155					10																	56077158		2203	4300	6503	55747164	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.749C>A	10.37:g.56077158G>T	ENSP00000322604:p.Thr250Asn		55747164	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363179	0.61513	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	0.53;0.53;0.53;0.53;0.53;0.53;0.53;-0.05;0.53;0.53;0.53;0.53;0.53;0.53;0.53	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76779	0.4035	L	0.60957	1.885	0.52099	D	0.999944	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.998;0.999;0.999;0.999;0.999;0.998;0.999;0.999;1.0;1.0;0.999;0.999	T	0.79463	-0.1793	9	0.72032	D	0.01	.	17.7447	0.88416	0.0:0.0:1.0:0.0	.	228;250;250;255;250;213;250;250;250;250;250;255;250;228;250	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	250;255;250;250;250;250;250;250;213;250;228;228;250;250;255;250;250	ENSP00000363076:T250N;ENSP00000410304:T255N;ENSP00000378826:T250N;ENSP00000378832:T250N;ENSP00000378833:T250N;ENSP00000378829:T250N;ENSP00000378827:T250N;ENSP00000378820:T213N;ENSP00000354950:T250N;ENSP00000378821:T228N;ENSP00000363068:T228N;ENSP00000322604:T250N;ENSP00000378818:T250N;ENSP00000412628:T250N;ENSP00000363066:T250N	ENSP00000322604:T250N	T	-	2	0	PCDH15	55747164	1.000000	0.71417	0.975000	0.42487	0.648000	0.38561	9.667000	0.98616	2.346000	0.79739	0.557000	0.71058	ACT		0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	56077158	G	T	56077158	3	4	53	1	0	0	0	0	1	0	0	0	11511	1029	36	3	6866	3	PCDH15	10	56077158	Missense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08		56077158	79457589	23	2624											
MYOF	26509	broad.mit.edu	37	10	95116557	95116557	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr10:95116557T>C	ENST00000359263.4	-	30	3168	c.3169A>G	c.(3169-3171)Att>Gtt	p.I1057V	MYOF_ENST00000358334.5_Missense_Mutation_p.I1044V|MYOF_ENST00000371502.4_Missense_Mutation_p.I1057V|MYOF_ENST00000371501.4_Missense_Mutation_p.I1057V	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1057					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.I1057V(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCCAGCCAATTAGAGAAGCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	10											101	93	96					10																	95116557		1934	4126	6060	95106547	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3169A>G	10.37:g.95116557T>C	ENSP00000352208:p.Ile1057Val		95106547	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947093	0.73672	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.74	5.74	0.90152	Ferlin/Peroxisome membrane (1);	0.049591	0.85682	N	0.000000	D	0.88377	0.6420	M	0.68317	2.08	0.58432	D	0.999999	P;D	0.58268	0.746;0.982	P;P	0.57283	0.661;0.817	D	0.89164	0.3532	10	0.59425	D	0.04	-19.427	16.0347	0.80617	0.0:0.0:0.0:1.0	.	1044;1057	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	V	1044;1057;1057;1057	ENSP00000351094:I1044V;ENSP00000352208:I1057V;ENSP00000360556:I1057V;ENSP00000360557:I1057V	ENSP00000351094:I1044V	I	-	1	0	MYOF	95106547	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.135000	0.71696	2.194000	0.70268	0.459000	0.35465	ATT		0.448	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		C	95116557	T	C	95116557	3	2	53	1	0	0	0	0	1	0	0	0	10089	1493	52	4	3116	4	MYOF	10	95116557	Missense_Mutation	SNP	T	TCGA-09-2045-01A-01W-0799-08	39039399	95116557	40418190	24	2625											
CD163	9332	broad.mit.edu	37	12	7635317	7635317	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr12:7635317G>C	ENST00000359156.4	-	14	3371	c.3169C>G	c.(3169-3171)Ctt>Gtt	p.L1057V	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.L1045V|CD163_ENST00000432237.2_Missense_Mutation_p.L1057V|CD163_ENST00000396620.3_Missense_Mutation_p.L1090V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1057					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L1057V(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ACAACCCCAAGGATCCCGACT	0.423																																																1	Substitution - Missense(1)	ovary(1)	12											121	125	124					12																	7635317		2203	4300	6503	7526584	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3169C>G	12.37:g.7635317G>C	ENSP00000352071:p.Leu1057Val		7526584	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960900	0.18583	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01369	4.97;5.0;5.03;5.01	3.68	-2.86	0.05717	.	1.141700	0.06764	N	0.782290	T	0.00875	0.0029	N	0.14661	0.345	0.09310	N	1	P;B;B	0.35433	0.501;0.001;0.293	B;B;B	0.25140	0.058;0.003;0.039	T	0.46624	-0.9178	10	0.48119	T	0.1	.	4.4735	0.11724	0.3944:0.3069:0.2987:0.0	.	1090;1057;1057	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	1057;1045;1090;1057	ENSP00000352071:L1057V;ENSP00000444071:L1045V;ENSP00000379863:L1090V;ENSP00000403885:L1057V	ENSP00000352071:L1057V	L	-	1	0	CD163	7526584	0.001000	0.12720	0.018000	0.16275	0.051000	0.14879	-0.383000	0.07398	-0.648000	0.05437	0.462000	0.41574	CTT		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		C	7635317	G	C	7635317	3	2	53	1	0	0	0	0	1	0	0	0	2967	1000	35	3	313	3	CD163	12	7635317	Missense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08		7635317	126216578	25	2626											
A2ML1	144568	broad.mit.edu	37	12	9016477	9016477	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr12:9016477C>G	ENST00000299698.7	+	29	3770	c.3590C>G	c.(3589-3591)aCa>aGa	p.T1197R	A2ML1_ENST00000539547.1_Missense_Mutation_p.T706R	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTGGAACTCACAGCATATGCA	0.507																																																0			12											79	78	78					12																	9016477		1968	4166	6134	8907744	SO:0001583	missense	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3590C>G	12.37:g.9016477C>G	ENSP00000299698:p.Thr1197Arg		8907744		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101527	0.76983	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.66638	-0.22;-0.22;-0.22	4.39	4.39	0.52855	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.209992	0.31290	N	0.007920	D	0.86264	0.5891	M	0.94142	3.5	0.35129	D	0.767762	D	0.76494	0.999	D	0.79108	0.992	D	0.92982	0.6407	10	0.87932	D	0	.	16.03	0.80572	0.0:1.0:0.0:0.0	.	1197	A8K2U0	A2ML1_HUMAN	R	1197;1197;747;706	ENSP00000299698:T1197R;ENSP00000443174:T747R;ENSP00000438292:T706R	ENSP00000299698:T1197R	T	+	2	0	A2ML1	8907744	0.951000	0.32395	0.064000	0.19789	0.704000	0.40688	2.063000	0.41423	2.421000	0.82119	0.591000	0.81541	ACA		0.507	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		G	9016477	C	G	9016477	3	3	53	1	0	0	0	0	1	0	0	0	5	478	17	3	3704	3	A2ML1	12	9016477	Missense_Mutation	SNP	C	TCGA-09-2045-01A-01W-0799-08	1381160	9016477	124835418	26	2627											
KRT72	140807	broad.mit.edu	37	12	52981593	52981593	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr12:52981593C>T	ENST00000537672.2	-	7	1142	c.1132G>A	c.(1132-1134)Ggg>Agg	p.G378R	KRT72_ENST00000293745.2_Missense_Mutation_p.G378R|KRT72_ENST00000354310.4_Missense_Mutation_p.G336R|KRT72_ENST00000398066.3_Missense_Mutation_p.G190R	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	378	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G378R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCGCAGTCCCCCCGCTGTTCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											50	48	48					12																	52981593		2203	4300	6503	51267860	SO:0001583	missense	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1132G>A	12.37:g.52981593C>T	ENSP00000441160:p.Gly378Arg		51267860	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569213	0.65765	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.92	4.92	0.64577	Filament (1);	0.000000	0.52532	D	0.000065	D	0.95306	0.8477	M	0.87900	2.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95726	0.8770	10	0.72032	D	0.01	.	19.0272	0.92937	0.0:1.0:0.0:0.0	.	336;378	B4DEI8;Q14CN4	.;K2C72_HUMAN	R	378;378;336;190	ENSP00000441160:G378R;ENSP00000293745:G378R;ENSP00000346269:G336R;ENSP00000446151:G190R	ENSP00000293745:G378R	G	-	1	0	KRT72	51267860	1.000000	0.71417	0.677000	0.29947	0.004000	0.04260	5.999000	0.70665	2.652000	0.90054	0.650000	0.86243	GGG		0.622	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		T	52981593	C	T	52981593	3	4	53	1	0	0	0	0	1	0	0	0	8485	623	22	2	415	2	KRT72	12	52981593	Missense_Mutation	SNP	C	TCGA-09-2045-01A-01W-0799-08	43965116	52981593	80870302	27	2628											
SHC4	399694	broad.mit.edu	37	15	49135648	49135648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr15:49135648G>A	ENST00000332408.4	-	10	1869	c.1441C>T	c.(1441-1443)Caa>Taa	p.Q481*	SHC4_ENST00000537958.1_Nonsense_Mutation_p.Q195*|SHC4_ENST00000396535.3_Nonsense_Mutation_p.Q238*	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	481	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.Q481*(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCTGACCTTTGATTTCCAGCA	0.468																																																1	Substitution - Nonsense(1)	ovary(1)	15											155	148	150					15																	49135648		2197	4295	6492	46922940	SO:0001587	stop_gained	399694			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1441C>T	15.37:g.49135648G>A	ENSP00000329668:p.Gln481*		46922940	Q6UXQ3|Q8IYW3	Nonsense_Mutation	SNP	ENST00000332408.4	37	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	41	8.754534	0.98941	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	.	.	.	5.0	5.0	0.66597	.	0.438805	0.20829	N	0.084939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-16.7137	13.3445	0.60564	0.0:0.0:0.8433:0.1567	.	.	.	.	X	481;238;195	.	ENSP00000329668:Q481X	Q	-	1	0	SHC4	46922940	0.014000	0.17966	0.015000	0.15790	0.723000	0.41478	1.475000	0.35409	2.591000	0.87537	0.650000	0.86243	CAA		0.468	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		A	49135648	G	A	49135648	4	1	53	1	0	0	0	0	0	1	0	0	14276	1299	45	2	463	2	SHC4	15	49135648	Nonsense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08		49135648	53395744	28	2629											
TLN2	83660	broad.mit.edu	37	15	63112743	63112743	+	Silent	SNP	G	G	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr15:63112743G>A	ENST00000561311.1	+	53	7166	c.6936G>A	c.(6934-6936)ggG>ggA	p.G2312G	TLN2_ENST00000306829.6_Silent_p.G2312G			Q9Y4G6	TLN2_HUMAN	talin 2	2312	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G2312G(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGTTACTGGGGGCTGCAGCAT	0.463																																																1	Substitution - coding silent(1)	ovary(1)	15											84	81	82					15																	63112743		2203	4300	6503	60899796	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6936G>A	15.37:g.63112743G>A			60899796	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.463	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63112743	G	A	63112743	2	1	53	1	0	0	0	0	0	0	0	1	15948	1219	43	2		2	TLN2	15	63112743	Silent	SNP	G	TCGA-09-2045-01A-01W-0799-08	13977095	63112743	39418649	29	2630											
CNOT1	23019	broad.mit.edu	37	16	58589407	58589407	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr16:58589407G>T	ENST00000317147.5	-	21	2971	c.2639C>A	c.(2638-2640)aCt>aAt	p.T880N	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.T880N|CNOT1_ENST00000569240.1_Missense_Mutation_p.T875N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	880	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.T880N(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTCTTTATAGTAGAGTCTTT	0.333																																																1	Substitution - Missense(1)	ovary(1)	16											80	85	84					16																	58589407		2198	4300	6498	57146908	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2639C>A	16.37:g.58589407G>T	ENSP00000320949:p.Thr880Asn		57146908	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	5.153	0.213885	0.09810	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.42900	0.97;0.96	5.76	4.71	0.59529	.	0.084376	0.85682	D	0.000000	T	0.22399	0.0540	N	0.14661	0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.0;0.001;0.005	T	0.10042	-1.0647	10	0.15066	T	0.55	.	8.4199	0.32694	0.0:0.1153:0.5591:0.3256	.	880;880;875	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	N	880;309;875;880	ENSP00000320949:T880N;ENSP00000413113:T880N	ENSP00000320949:T880N	T	-	2	0	CNOT1	57146908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.070000	0.57548	2.880000	0.98712	0.650000	0.86243	ACT		0.333	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		T	58589407	G	T	58589407	3	4	53	1	0	0	0	0	1	0	0	0	3617	1029	36	3	4829	3	CNOT1	16	58589407	Missense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08		58589407	31765346	30	2631											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	17											47	47	47					17																	7578394		2203	4300	6503	7519119	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		7519119	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	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578394	T	C	7578394	3	2	53	1	0	0	0	0	1	0	0	0	16381	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-09-2045-01A-01W-0799-08		7578394	73616816	31	2632											
ZNF521	25925	broad.mit.edu	37	18	22805634	22805634	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr18:22805634T>C	ENST00000361524.3	-	4	2396	c.2248A>G	c.(2248-2250)Aaa>Gaa	p.K750E	ZNF521_ENST00000584787.1_Missense_Mutation_p.K530E|ZNF521_ENST00000538137.2_Missense_Mutation_p.K750E|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	750					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.K750E(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTATAGACTTTCTTTTCGTTA	0.478			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - Missense(1)	ovary(1)	18											72	69	70					18																	22805634		2203	4300	6503	21059632	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2248A>G	18.37:g.22805634T>C	ENSP00000354794:p.Lys750Glu		21059632	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438135	0.25900	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.43294	2.8;0.95;2.82	6.17	6.17	0.99709	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.84683	2.71	0.49299	D	0.999777	D	0.71674	0.998	D	0.67548	0.952	T	0.73427	-0.3986	10	0.72032	D	0.01	-25.0869	16.8222	0.85835	0.0:0.0:0.0:1.0	.	750	Q96K83	ZN521_HUMAN	E	750;784;750	ENSP00000354794:K750E;ENSP00000440768:K784E;ENSP00000382352:K750E	ENSP00000354794:K750E	K	-	1	0	ZNF521	21059632	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	AAA		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		C	22805634	T	C	22805634	3	2	53	1	0	0	0	0	1	0	0	0	17965	1792	62	4	1707	4	ZNF521	18	22805634	Missense_Mutation	SNP	T	TCGA-09-2045-01A-01W-0799-08		22805634	55271614	32	2633											
CDH2	1000	broad.mit.edu	37	18	25565525	25565525	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr18:25565525T>C	ENST00000269141.3	-	12	2365	c.1942A>G	c.(1942-1944)Att>Gtt	p.I648V	CDH2_ENST00000399380.3_Missense_Mutation_p.I617V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	648	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.I648V(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCTCTTAATAGTCACTGGA	0.358																																																1	Substitution - Missense(1)	ovary(1)	18											69	68	68					18																	25565525		2203	4300	6503	23819523	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1942A>G	18.37:g.25565525T>C	ENSP00000269141:p.Ile648Val		23819523	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	T	2.618	-0.289269	0.05605	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.60424	0.19;0.19	5.96	4.76	0.60689	Cadherin (3);Cadherin-like (1);	0.110120	0.64402	D	0.000005	T	0.34542	0.0901	N	0.16307	0.4	0.50813	D	0.999892	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.005	T	0.10989	-1.0606	10	0.07813	T	0.8	.	7.4826	0.27415	0.1282:0.0684:0.0:0.8034	.	617;648	A8MWK3;P19022	.;CADH2_HUMAN	V	648;617	ENSP00000269141:I648V;ENSP00000382312:I617V	ENSP00000269141:I648V	I	-	1	0	CDH2	23819523	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	2.588000	0.46137	1.024000	0.39682	0.477000	0.44152	ATT		0.358	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		C	25565525	T	C	25565525	3	2	53	1	0	0	0	0	1	0	0	0	3105	1406	49	4	798	4	CDH2	18	25565525	Missense_Mutation	SNP	T	TCGA-09-2045-01A-01W-0799-08	2759891	25565525	52511723	33	2634											
TCF20	6942	broad.mit.edu	37	22	42607672	42607672	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2045-01A-01W-0799-08	TCGA-09-2045-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ca5ac140-34e2-4684-ad12-65ae699172fc	109b0968-55fe-43bf-96b6-c1c32b6b7400	g.chr22:42607672G>A	ENST00000359486.3	-	1	3776	c.3640C>T	c.(3640-3642)Ccg>Tcg	p.P1214S	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.P1214S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.P1214S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCATGGGGCGGCCCATACCTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	22											95	88	90					22																	42607672		2203	4300	6503	40937616	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3640C>T	22.37:g.42607672G>A	ENSP00000352463:p.Pro1214Ser		40937616	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721737	0.30503	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.57436	0.4;0.4	5.34	5.34	0.76211	.	0.083998	0.51477	D	0.000088	T	0.29620	0.0739	N	0.12182	0.205	0.80722	D	1	B;B	0.32573	0.376;0.259	B;B	0.29598	0.104;0.048	T	0.14144	-1.0483	10	0.16896	T	0.51	-11.0684	9.8672	0.41152	0.0899:0.0:0.9101:0.0	.	1214;1214	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	S	1214	ENSP00000352463:P1214S;ENSP00000335561:P1214S	ENSP00000335561:P1214S	P	-	1	0	TCF20	40937616	1.000000	0.71417	0.585000	0.28666	0.828000	0.46876	3.857000	0.55972	2.776000	0.95493	0.650000	0.86243	CCG		0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		A	42607672	G	A	42607672	3	1	53	1	0	0	0	0	1	0	0	0	15690	1203	42	2	2280	2	TCF20	22	42607672	Missense_Mutation	SNP	G	TCGA-09-2045-01A-01W-0799-08		42607672	8696894	34	2635											
CHD5	26038	broad.mit.edu	37	1	6189018	6189018	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:6189018T>C	ENST00000262450.3	-	23	3598	c.3499A>G	c.(3499-3501)Atg>Gtg	p.M1167V	CHD5_ENST00000378021.1_Missense_Mutation_p.M24V	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.M1167V(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGGTGAGCATCATCTTGCGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											66	57	60					1																	6189018		2203	4300	6503	6111605	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3499A>G	1.37:g.6189018T>C	ENSP00000262450:p.Met1167Val		6111605	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779100	0.70107	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.95272	-3.66;2.48	4.1	4.1	0.47936	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92189	0.7523	N	0.16478	0.41	0.58432	D	0.999999	P;P	0.50528	0.713;0.936	P;P	0.56916	0.678;0.809	D	0.90131	0.4206	10	0.21540	T	0.41	-32.2349	13.5277	0.61605	0.0:0.0:0.0:1.0	.	1167;24	Q8TDI0;Q5TG85	CHD5_HUMAN;.	V	1167;683;24;575;575;24	ENSP00000262450:M1167V;ENSP00000367260:M24V	ENSP00000262450:M1167V	M	-	1	0	CHD5	6111605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.975000	0.70475	1.839000	0.53478	0.459000	0.35465	ATG		0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		C	6189018	T	C	6189018	3	2	54	1	0	0	0	0	1	0	0	0	3328	1435	50	4	2441	4	CHD5	1	6189018	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08		6189018	243061603	1	2636											
LCK	3932	broad.mit.edu	37	1	32745786	32745786	+	Silent	SNP	C	C	T	rs188058742		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:32745786C>T	ENST00000336890.5	+	12	1440	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	LCK_ENST00000373564.3_Silent_p.V441V|LCK_ENST00000333070.4_Silent_p.V464V	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.V434V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CGGAAATTGTCACCCACGGCC	0.507			T	TRB@	T-ALL								.|||	1	0.000199681	0	0.0014	5008	,	,		18248	0		0	False		,,,				2504	0						Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	1	Substitution - coding silent(1)	ovary(1)	1											90	81	84					1																	32745786		2203	4300	6503	32518373	SO:0001819	synonymous_variant	3932			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.1302C>T	1.37:g.32745786C>T			32518373	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	ENST00000336890.5	37	CCDS359.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	8.590	0.884395	0.17467	.	.	ENSG00000182866	ENST00000436824	.	.	.	4.67	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7163	0.40276	0.0:0.771:0.0:0.229	.	.	.	.	.	-1	.	.	.	+	.	.	LCK	32518373	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.174000	0.31932	0.721000	0.32231	0.555000	0.69702	.		0.507	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		T	32745786	C	T	32745786	2	4	54	1	0	0	0	0	0	0	0	1	8676	813	29	2		2	LCK	1	32745786	Silent	SNP	C	TCGA-09-2049-01D-01W-0799-08	26556768	32745786	216504835	2	2637											
PHC2	1912	broad.mit.edu	37	1	33794643	33794643	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:33794643C>G	ENST00000257118.5	-	13	2303	c.2250G>C	c.(2248-2250)ttG>ttC	p.L750F	RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000373416.1_Missense_Mutation_p.L215F|PHC2_ENST00000419414.2_Missense_Mutation_p.L751F|PHC2_ENST00000373422.3_Missense_Mutation_p.L356F|PHC2_ENST00000373418.3_Missense_Mutation_p.L215F|PHC2_ENST00000431992.1_Missense_Mutation_p.L721F|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	750					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L750F(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGATGGGTGACAAGGGTTCCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											107	98	101					1																	33794643		2203	4300	6503	33567230	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2250G>C	1.37:g.33794643C>G	ENSP00000257118:p.Leu750Phe		33567230	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259363	0.80246	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.50813	1.71;1.28;0.73;1.69	5.79	5.79	0.91817	.	0.235064	0.37437	N	0.002083	T	0.62380	0.2423	L	0.58810	1.83	0.49915	D	0.999833	D;D;D;D	0.71674	0.987;0.987;0.987;0.998	P;P;P;P	0.62649	0.737;0.737;0.737;0.905	T	0.54463	-0.8290	10	0.23891	T	0.37	-8.7527	17.5262	0.87801	0.0:1.0:0.0:0.0	.	751;722;750;165	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	F	721;750;356;215;327;751;215	ENSP00000389436:L721F;ENSP00000257118:L750F;ENSP00000362521:L356F;ENSP00000391440:L751F	ENSP00000257118:L750F	L	-	3	2	PHC2	33567230	0.973000	0.33851	1.000000	0.80357	0.993000	0.82548	0.451000	0.21779	2.736000	0.93811	0.561000	0.74099	TTG		0.592	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		G	33794643	C	G	33794643	3	3	54	1	0	0	0	0	1	0	0	0	11817	477	17	3	334	3	PHC2	1	33794643	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	1048857	33794643	215455978	3	2638											
MAP7D1	55700	broad.mit.edu	37	1	36645540	36645540	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:36645540A>G	ENST00000373151.2	+	16	2603	c.2387A>G	c.(2386-2388)gAg>gGg	p.E796G	MAP7D1_ENST00000373148.4_Missense_Mutation_p.E332G|MAP7D1_ENST00000316156.4_Missense_Mutation_p.E758G|MAP7D1_ENST00000373150.4_Missense_Mutation_p.E763G	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	796					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.E796G(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)				GCACACCAGGAGAATGGCTTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											49	49	49					1																	36645540		2203	4300	6503	36418127	SO:0001583	missense	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.2387A>G	1.37:g.36645540A>G	ENSP00000362244:p.Glu796Gly		36418127	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162245	0.78226	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373153;ENST00000373148	T;T;T;T	0.17213	2.48;2.69;2.65;2.29	5.24	5.24	0.73138	.	0.000000	0.40818	N	0.001020	T	0.32224	0.0822	L	0.36672	1.1	0.46149	D	0.998891	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.998	D;D;D;D;D	0.85130	0.997;0.991;0.996;0.996;0.991	T	0.03875	-1.0996	10	0.87932	D	0	-26.1033	14.1001	0.65049	1.0:0.0:0.0:0.0	.	332;795;758;763;796	Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;.;.;MA7D1_HUMAN	G	758;763;796;119;332	ENSP00000320228:E758G;ENSP00000362243:E763G;ENSP00000362244:E796G;ENSP00000362241:E332G	ENSP00000320228:E758G	E	+	2	0	MAP7D1	36418127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	2.206000	0.71126	0.533000	0.62120	GAG		0.592	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		G	36645540	A	G	36645540	3	3	54	1	0	0	0	0	1	0	0	0	9267	304	11	4	2449	4	MAP7D1	1	36645540	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	2850897	36645540	212605081	4	2639											
KLF17	128209	broad.mit.edu	37	1	44595669	44595669	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:44595669G>T	ENST00000372299.3	+	2	784	c.726G>T	c.(724-726)caG>caT	p.Q242H	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	242					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q242H(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TTGTCAGTCAGCCAGACTCTC	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											68	67	68					1																	44595669		2203	4300	6503	44368256	SO:0001583	missense	128209			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.726G>T	1.37:g.44595669G>T	ENSP00000361373:p.Gln242His		44368256	Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539831	0.45176	.	.	ENSG00000171872	ENST00000372299	T	0.11604	2.76	4.78	-0.613	0.11594	.	0.748949	0.11934	N	0.515403	T	0.06280	0.0162	L	0.34521	1.04	0.09310	N	1	B	0.30281	0.275	B	0.25140	0.058	T	0.37197	-0.9716	10	0.29301	T	0.29	.	3.5998	0.08020	0.4138:0.0:0.3907:0.1955	.	242	Q5JT82	KLF17_HUMAN	H	242	ENSP00000361373:Q242H	ENSP00000361373:Q242H	Q	+	3	2	KLF17	44368256	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	0.156000	0.16382	-0.086000	0.12550	0.650000	0.86243	CAG		0.562	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		T	44595669	G	T	44595669	3	4	54	1	0	0	0	0	1	0	0	0	8345	962	34	3	732	3	KLF17	1	44595669	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	7950129	44595669	204654952	5	2640											
ERI3	79033	broad.mit.edu	37	1	44778840	44778840	+	Splice_Site	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:44778840C>G	ENST00000372257.2	-	5	848		c.e5+1		ERI3_ENST00000495828.1_Splice_Site|ERI3_ENST00000537474.1_Splice_Site|ERI3_ENST00000372259.5_Splice_Site	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3								exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACTCAACCTACCTCCAGCACT	0.498																																																1	Unknown(1)	ovary(1)	1											107	107	107					1																	44778840		2203	4300	6503	44551427	SO:0001630	splice_region_variant	79033			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"Enhanced RNAi three prime mRNA exonucleases"	17276	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)", "exoribonuclease 3"	609917	"prion protein interacting protein"	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.666+1G>C	1.37:g.44778840C>G			44551427	B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Splice_Site	SNP	ENST00000372257.2	37	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102402	0.76983	.	.	ENSG00000117419	ENST00000372257;ENST00000372259;ENST00000456170;ENST00000537474;ENST00000433471;ENST00000372253;ENST00000452396;ENST00000457571	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4202	0.94719	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERI3	44551427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.796000	0.69080	2.825000	0.97269	0.655000	0.94253	.		0.498	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066	Intron	G	44778840	C	G	44778840	5	3	54	1	0	0	0	0	0	0	1	0	5229	521	18	3	366	3	ERI3	1	44778840	Splice_Site	SNP	C	TCGA-09-2049-01D-01W-0799-08	183171	44778840	204471781	6	2641											
ROR1	4919	broad.mit.edu	37	1	64644314	64644314	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:64644314A>G	ENST00000371079.1	+	9	2965	c.2590A>G	c.(2590-2592)Agc>Ggc	p.S864G	ROR1_ENST00000545203.1_Missense_Mutation_p.S315G	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	864	Ser/Thr-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.S864G(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGGGTCGACTAGCACTGGCCA	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											80	64	69					1																	64644314		2203	4300	6503	64416902	SO:0001583	missense	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2590A>G	1.37:g.64644314A>G	ENSP00000360120:p.Ser864Gly		64416902	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378770	0.82682	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;D	0.81659	-1.14;-1.52	6.17	6.17	0.99709	.	0.000000	0.51477	D	0.000087	T	0.81384	0.4811	L	0.32530	0.975	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	D	0.84305	0.0507	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	864	Q01973	ROR1_HUMAN	G	864;867;315	ENSP00000360120:S864G;ENSP00000441637:S315G	ENSP00000360120:S864G	S	+	1	0	ROR1	64416902	1.000000	0.71417	0.943000	0.38184	0.991000	0.79684	8.915000	0.92740	2.371000	0.80710	0.533000	0.62120	AGC		0.527	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		G	64644314	A	G	64644314	3	3	54	1	0	0	0	0	1	0	0	0	13529	420	15	4	2632	4	ROR1	1	64644314	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	19865474	64644314	184606307	7	2642											
ASB17	127247	broad.mit.edu	37	1	76397959	76397959	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:76397959T>A	ENST00000284142.6	-	1	157	c.18A>T	c.(16-18)aaA>aaT	p.K6N		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	6					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.K6N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TACCACATAATTTAGTAGATT	0.358																																																1	Substitution - Missense(1)	ovary(1)	1											48	51	50					1																	76397959		2201	4298	6499	76170547	SO:0001583	missense	127247			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.18A>T	1.37:g.76397959T>A	ENSP00000284142:p.Lys6Asn		76170547	B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	CCDS671.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948456	0.34377	.	.	ENSG00000154007	ENST00000284142	T	0.35789	1.29	5.98	1.93	0.25924	.	0.201943	0.34725	N	0.003730	T	0.09686	0.0238	N	0.24115	0.695	0.29581	N	0.849166	P	0.36282	0.546	B	0.35550	0.205	T	0.08186	-1.0734	10	0.66056	D	0.02	.	7.5351	0.27706	0.0:0.2953:0.0:0.7047	.	6	Q8WXJ9	ASB17_HUMAN	N	6	ENSP00000284142:K6N	ENSP00000284142:K6N	K	-	3	2	ASB17	76170547	0.991000	0.36638	1.000000	0.80357	0.368000	0.29767	-0.031000	0.12287	0.496000	0.27904	0.533000	0.62120	AAA		0.358	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		A	76397959	T	A	76397959	3	1	54	1	0	0	0	0	1	0	0	0	1021	1490	52	5	881	5	ASB17	1	76397959	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	11753645	76397959	172852662	8	2643											
HBXIP	10542	broad.mit.edu	37	1	110944162	110944162	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:110944162G>T	ENST00000602318.1	-	4	346	c.259C>A	c.(259-261)Cac>Aac	p.H87N	LAMTOR5_ENST00000474861.2_Missense_Mutation_p.H86N|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000602858.1_Missense_Mutation_p.H75N|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.H169N|LAMTOR5_ENST00000483260.1_Missense_Mutation_p.H86N			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	87					cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)		p.H169N(1)									GCCATTTTGTGCACTGCCACC	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											107	93	98					1																	110944162		2203	4300	6503	110745685	SO:0001583	missense	10542			AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000602318.1:c.259C>A	1.37:g.110944162G>T	ENSP00000473439:p.His87Asn		110745685	Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37		.	.	.	.	.	.	.	.	.	.	G	30	5.057832	0.93846	.	.	ENSG00000134248	ENST00000483260;ENST00000474861;ENST00000256644	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.70911	0.3278	.	.	.	0.58432	D	0.999997	D	0.53885	0.963	P	0.55455	0.776	T	0.72494	-0.4276	8	0.72032	D	0.01	-20.4354	19.3124	0.94195	0.0:0.0:1.0:0.0	.	87	O43504	HBXIP_HUMAN	N	86;86;169	.	ENSP00000256644:H169N	H	-	1	0	HBXIP	110745685	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.245000	0.89825	2.932000	0.99384	0.643000	0.83706	CAC		0.413	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		T	110944162	G	T	110944162	3	4	54	1	0	0	0	0	1	0	0	0	6988	1319	46	3	20	3	HBXIP	1	110944162	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	34546203	110944162	138306459	9	2644											
TDRD10	126668	broad.mit.edu	37	1	154516505	154516505	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:154516505T>G	ENST00000368480.3	+	9	655	c.570T>G	c.(568-570)caT>caG	p.H190Q	TDRD10_ENST00000368482.4_Missense_Mutation_p.H190Q|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	190							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H190Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACTCATCCATAGCGTCCGTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											145	124	131					1																	154516505		2203	4300	6503	152783129	SO:0001583	missense	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.570T>G	1.37:g.154516505T>G	ENSP00000357465:p.His190Gln		152783129	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	T	1.422	-0.572528	0.03882	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.22134	1.98;1.97	4.29	3.38	0.38709	.	1.683010	0.03219	N	0.177214	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	B;P	0.35982	0.396;0.531	B;B	0.35470	0.1;0.203	T	0.27020	-1.0086	10	0.54805	T	0.06	-0.2164	7.9155	0.29816	0.0:0.8867:0.0:0.1133	.	190;190	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	Q	190	ENSP00000357467:H190Q;ENSP00000357465:H190Q	ENSP00000357465:H190Q	H	+	3	2	TDRD10	152783129	0.000000	0.05858	0.020000	0.16555	0.012000	0.07955	0.130000	0.15850	1.034000	0.39945	-0.239000	0.12128	CAT		0.602	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		G	154516505	T	G	154516505	3	3	54	1	0	0	0	0	1	0	0	0	15731	1403	49	5	600	5	TDRD10	1	154516505	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	43572343	154516505	94734116	10	2645											
PKLR	5313	broad.mit.edu	37	1	155264372	155264372	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:155264372C>A	ENST00000342741.4	-	6	904	c.866G>T	c.(865-867)cGg>cTg	p.R289L	PKLR_ENST00000392414.3_Missense_Mutation_p.R258L	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	289					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.R289L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCTGGCTTTCCGCACAAAGGA	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											91	80	84					1																	155264372		2203	4300	6503	153530996	SO:0001583	missense	5313			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.866G>T	1.37:g.155264372C>A	ENSP00000339933:p.Arg289Leu		153530996	O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253688	0.80135	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99778	-6.73;-6.73	4.48	4.48	0.54585	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	H	0.97023	3.925	0.80722	D	1	P;P	0.42337	0.776;0.776	B;B	0.40659	0.336;0.336	D	0.98886	1.0771	10	0.72032	D	0.01	-24.4399	15.0157	0.71581	0.0:1.0:0.0:0.0	.	289;280	P30613;B1AVT1	KPYR_HUMAN;.	L	314;258;289;203	ENSP00000376214:R258L;ENSP00000339933:R289L	ENSP00000271946:R203L	R	-	2	0	PKLR	153530996	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.786000	0.69006	2.485000	0.83878	0.467000	0.42956	CGG		0.627	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		A	155264372	C	A	155264372	3	1	54	1	0	0	0	0	1	0	0	0	11976	652	23	3	882	3	PKLR	1	155264372	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	747867	155264372	93986249	11	2646											
INSRR	3645	broad.mit.edu	37	1	156815493	156815493	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:156815493C>T	ENST00000368195.3	-	10	2488	c.2092G>A	c.(2092-2094)Gtt>Att	p.V698I	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	698	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V698I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGGGCAGAACCTGACCAGGA	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											46	45	45					1																	156815493		2203	4300	6503	155082117	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2092G>A	1.37:g.156815493C>T	ENSP00000357178:p.Val698Ile		155082117	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	9.021	0.984873	0.18889	.	.	ENSG00000027644	ENST00000368195	T	0.73681	-0.77	4.58	3.59	0.41128	Fibronectin, type III (2);	1.122080	0.06836	N	0.794908	T	0.51500	0.1678	.	.	.	0.21553	N	0.999646	B	0.16166	0.016	B	0.12156	0.007	T	0.50381	-0.8835	9	0.56958	D	0.05	.	12.559	0.56271	0.0:0.8305:0.1695:0.0	.	698	P14616	INSRR_HUMAN	I	698	ENSP00000357178:V698I	ENSP00000357178:V698I	V	-	1	0	INSRR	155082117	0.941000	0.31946	0.958000	0.39756	0.615000	0.37417	1.612000	0.36889	2.535000	0.85469	0.561000	0.74099	GTT		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156815493	C	T	156815493	3	4	54	1	0	0	0	0	1	0	0	0	7774	507	18	2	1852	2	INSRR	1	156815493	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	1551121	156815493	92435128	12	2647											
HMCN1	83872	broad.mit.edu	37	1	185897763	185897763	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:185897763G>T	ENST00000271588.4	+	10	1745	c.1516G>T	c.(1516-1518)Ggt>Tgt	p.G506C	HMCN1_ENST00000367492.2_Missense_Mutation_p.G506C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	506	Ig-like C2-type 1.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G506C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCAGTGCAGGTACTGGACG	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											197	178	184					1																	185897763		2203	4300	6503	184164386	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1516G>T	1.37:g.185897763G>T	ENSP00000271588:p.Gly506Cys		184164386	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746224	0.69418	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.58940	0.3;0.3	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82853	-0.0252	10	0.72032	D	0.01	.	19.299	0.94136	0.0:0.0:1.0:0.0	.	506	Q96RW7	HMCN1_HUMAN	C	506	ENSP00000271588:G506C;ENSP00000356462:G506C	ENSP00000271588:G506C	G	+	1	0	HMCN1	184164386	1.000000	0.71417	0.974000	0.42286	0.333000	0.28666	9.101000	0.94219	2.549000	0.85964	0.644000	0.83932	GGT		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185897763	G	T	185897763	3	4	54	1	0	0	0	0	1	0	0	0	7220	1000	35	3	1554	3	HMCN1	1	185897763	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	29082270	185897763	63352858	13	2648											
MDM4	4194	broad.mit.edu	37	1	204515957	204515957	+	Silent	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:204515957G>A	ENST00000367182.3	+	10	1017	c.855G>A	c.(853-855)gaG>gaA	p.E285E	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000454264.2_Silent_p.E235E|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	285	Asp/Glu-rich (acidic).|Region II.				cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)	p.E285E(1)		central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGACCTGGAGGACTCTAAGT	0.388			A		"GBM, bladder, retinoblastoma"																																		Dom	yes		1	1q32	4194	Mdm4 p53 binding protein homolog		M	1	Substitution - coding silent(1)	ovary(1)	1											129	123	125					1																	204515957		2203	4300	6503	202782580	SO:0001819	synonymous_variant	4194			AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"mouse double minute 4, human homolog of; p53-binding protein", "Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)", "Mdm4 p53 binding protein homolog (mouse)"			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.855G>A	1.37:g.204515957G>A			202782580	Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Silent	SNP	ENST00000367182.3	37	CCDS1447.1																																																																																				0.388	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393		A	204515957	G	A	204515957	2	1	54	1	0	0	0	0	0	0	0	1	9414	991	35	2		2	MDM4	1	204515957	Silent	SNP	G	TCGA-09-2049-01D-01W-0799-08	18618194	204515957	44734664	14	2649											
PLXNA2	5362	broad.mit.edu	37	1	208269462	208269462	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:208269462C>G	ENST00000367033.3	-	8	2651	c.1894G>C	c.(1894-1896)Ggg>Cgg	p.G632R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	632					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G632R(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGCTCCAGCCCAAACCAGTCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											166	178	174					1																	208269462		2203	4300	6503	206336085	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1894G>C	1.37:g.208269462C>G	ENSP00000356000:p.Gly632Arg		206336085	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991073	0.74703	.	.	ENSG00000076356	ENST00000367033	T	0.00848	5.62	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.01627	0.0052	M	0.63428	1.95	0.80722	D	1	D	0.54964	0.969	B	0.38225	0.268	T	0.72221	-0.4356	10	0.30854	T	0.27	.	18.6344	0.91371	0.0:1.0:0.0:0.0	.	632	O75051	PLXA2_HUMAN	R	632	ENSP00000356000:G632R	ENSP00000356000:G632R	G	-	1	0	PLXNA2	206336085	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.516000	0.81772	2.635000	0.89317	0.650000	0.86243	GGG		0.468	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		G	208269462	C	G	208269462	3	3	54	1	0	0	0	0	1	0	0	0	12120	594	21	3	3890	3	PLXNA2	1	208269462	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	3753505	208269462	40981159	15	2650											
EPHX1	2052	broad.mit.edu	37	1	226027540	226027540	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:226027540G>C	ENST00000366837.4	+	6	929	c.733G>C	c.(733-735)Ggc>Cgc	p.G245R	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.G245R	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	245					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.G245R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCACGTGAAAGGCCTGCACTT	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											156	151	153					1																	226027540		2203	4300	6503	224094163	SO:0001583	missense	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.733G>C	1.37:g.226027540G>C	ENSP00000355802:p.Gly245Arg		224094163	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063541	0.93898	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.61859	0.07;0.07	5.42	5.42	0.78866	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78917	-0.2015	10	0.87932	D	0	-12.1183	19.2242	0.93812	0.0:0.0:1.0:0.0	.	245	P07099	HYEP_HUMAN	R	245	ENSP00000272167:G245R;ENSP00000355802:G245R	ENSP00000272167:G245R	G	+	1	0	EPHX1	224094163	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.828000	0.99408	2.553000	0.86117	0.591000	0.81541	GGC		0.592	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		C	226027540	G	C	226027540	3	2	54	1	0	0	0	0	1	0	0	0	5179	1000	35	3	751	3	EPHX1	1	226027540	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	17758078	226027540	23223081	16	2651											
OR2M3	127062	broad.mit.edu	37	1	248366767	248366767	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr1:248366767C>A	ENST00000456743.1	+	1	436	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T133N(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTAAGATACACCAATCTCATG	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											222	222	222					1																	248366767		2203	4300	6503	246433390	SO:0001583	missense	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.398C>A	1.37:g.248366767C>A	ENSP00000389625:p.Thr133Asn		246433390	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	6.785	0.513879	0.12944	.	.	ENSG00000228198	ENST00000456743	T	0.19532	2.14	2.55	-0.726	0.11170	GPCR, rhodopsin-like superfamily (1);	0.669759	0.11450	U	0.562904	T	0.15998	0.0385	L	0.52206	1.635	0.09310	N	1	B	0.26845	0.161	B	0.29598	0.104	T	0.36720	-0.9736	10	0.72032	D	0.01	.	0.9542	0.01382	0.2846:0.363:0.1406:0.2117	.	133	Q8NG83	OR2M3_HUMAN	N	133	ENSP00000389625:T133N	ENSP00000389625:T133N	T	+	2	0	OR2M3	246433390	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.774000	0.00777	-0.012000	0.14223	-0.491000	0.04670	ACC		0.428	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		A	248366767	C	A	248366767	3	1	54	1	0	0	0	0	1	0	0	0	11011	507	18	3	400	3	OR2M3	1	248366767	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	22339227	248366767	883854	17	2652											
PXDN	7837	broad.mit.edu	37	2	1680797	1680797	+	Silent	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:1680797G>C	ENST00000252804.4	-	8	800	c.750C>G	c.(748-750)tcC>tcG	p.S250S	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	250	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S250S(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCTGGGGCTCGGAGGTGATCC	0.517																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	2											48	54	52					2																	1680797		1944	4137	6081	1659804	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.750C>G	2.37:g.1680797G>C			1659804	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.847|7.847	0.723083|0.723083	0.15439|0.15439	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941	.|.	.|.	.|.	4.77|4.77	-8.27|-8.27	0.01017|0.01017	.|.	.|.	.|.	.|.	.|.	T|T	0.35068|0.35068	0.0919|0.0919	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42120|0.42120	-0.9470|-0.9470	4|4	.|.	.|.	.|.	-7.7603|-7.7603	2.5215|2.5215	0.04681|0.04681	0.1025:0.188:0.3619:0.3476|0.1025:0.188:0.3619:0.3476	.|.	.|.	.|.	.|.	R|G	246|174	.|.	.|.	P|R	-|-	2|1	0|2	PXDN|PXDN	1659804|1659804	0.000000|0.000000	0.05858|0.05858	0.664000|0.664000	0.29753|0.29753	0.754000|0.754000	0.42855|0.42855	-1.750000|-1.750000	0.01822|0.01822	-1.314000|-1.314000	0.02300|0.02300	0.449000|0.449000	0.29647|0.29647	CCG|CGA		0.517	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		C	1680797	G	C	1680797	2	2	54	1	0	0	0	0	0	0	0	1	12850	1103	39	3		3	PXDN	2	1680797	Silent	SNP	G	TCGA-09-2049-01D-01W-0799-08		1680797	241518576	18	2653											
C2orf16	84226	broad.mit.edu	37	2	27803057	27803057	+	Silent	SNP	A	A	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:27803057A>G	ENST00000408964.2	+	1	3669	c.3618A>G	c.(3616-3618)caA>caG	p.Q1206Q	ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1206						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCTATACTCAAGCTTCCAAGA	0.473																																																0			2											105	104	104					2																	27803057		1904	4119	6023	27656561	SO:0001819	synonymous_variant	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3618A>G	2.37:g.27803057A>G			27656561	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																				0.473	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		G	27803057	A	G	27803057	2	3	54	1	0	0	0	0	0	0	0	1	2157	69	3	4		4	C2orf16	2	27803057	Silent	SNP	A	TCGA-09-2049-01D-01W-0799-08	26122260	27803057	215396316	19	2654											
HEATR5B	54497	broad.mit.edu	37	2	37230724	37230724	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:37230724C>T	ENST00000233099.5	-	31	5106	c.5011G>A	c.(5011-5013)Gct>Act	p.A1671T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1671T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1671						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.A1671T(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCCTGAGCAGCTCTTACTATC	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											86	86	86					2																	37230724		2203	4300	6503	37084228	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5011G>A	2.37:g.37230724C>T	ENSP00000233099:p.Ala1671Thr		37084228	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231011	0.95207	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.65916	-0.18;-0.18	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79193	-0.1904	10	0.48119	T	0.1	-21.2915	19.7818	0.96418	0.0:1.0:0.0:0.0	.	1671	Q9P2D3	HTR5B_HUMAN	T	1671	ENSP00000233099:A1671T;ENSP00000346531:A1671T	ENSP00000233099:A1671T	A	-	1	0	HEATR5B	37084228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.250000	0.65432	2.736000	0.93811	0.655000	0.94253	GCT		0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		T	37230724	C	T	37230724	3	4	54	1	0	0	0	0	1	0	0	0	7032	797	28	2	1228	2	HEATR5B	2	37230724	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	9427667	37230724	205968649	20	2655											
AFTPH	54812	broad.mit.edu	37	2	64819122	64819122	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:64819122G>A	ENST00000422803.1	+	10	3081	c.2767G>A	c.(2767-2769)Gcc>Acc	p.A923T	AFTPH_ENST00000409933.1_Missense_Mutation_p.A922T|AFTPH_ENST00000238856.4_Missense_Mutation_p.A895T|AFTPH_ENST00000238855.7_Missense_Mutation_p.A922T|AFTPH_ENST00000409183.1_Missense_Mutation_p.A554T			Q6ULP2	AFTIN_HUMAN	aftiphilin	923					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.A895T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GATGTTCCCAGCCACGTTAAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											191	169	176					2																	64819122		2203	4300	6503	64672626	SO:0001583	missense	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2767G>A	2.37:g.64819122G>A	ENSP00000397726:p.Ala923Thr		64672626	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	G	14.23	2.472527	0.43942	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.52983	1.68;1.64;1.64;1.64;0.64	5.91	2.99	0.34606	.	0.054481	0.64402	N	0.000001	T	0.44180	0.1281	M	0.64997	1.995	0.46028	D	0.998829	B;B;B;B	0.18461	0.028;0.028;0.003;0.011	B;B;B;B	0.19946	0.027;0.027;0.004;0.01	T	0.38265	-0.9669	10	0.44086	T	0.13	-0.8887	11.1386	0.48390	0.2089:0.0:0.7911:0.0	.	923;895;894;922	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	T	895;923;922;922;554	ENSP00000238856:A895T;ENSP00000397726:A923T;ENSP00000238855:A922T;ENSP00000387071:A922T;ENSP00000386913:A554T	ENSP00000238855:A922T	A	+	1	0	AFTPH	64672626	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	2.866000	0.48420	0.753000	0.32945	0.655000	0.94253	GCC		0.443	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		A	64819122	G	A	64819122	3	1	54	1	0	0	0	0	1	0	0	0	364	971	34	2	2801	2	AFTPH	2	64819122	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	27588398	64819122	178380251	21	2656											
NAT8	9027	broad.mit.edu	37	2	73868394	73868394	+	Missense_Mutation	SNP	A	A	T	rs62000430	byFrequency	TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:73868394A>T	ENST00000272425.3	-	2	511	c.362T>A	c.(361-363)aTg>aAg	p.M121K		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.M121K(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGCTCCTACCATGCCCACCAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											92	90	91					2																	73868394		2203	4300	6503	73721902	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.362T>A	2.37:g.73868394A>T	ENSP00000272425:p.Met121Lys		73721902		Missense_Mutation	SNP	ENST00000272425.3	37	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851466	0.32699	.	.	ENSG00000144035	ENST00000272425	T	0.22539	1.95	3.86	-1.95	0.07548	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.596637	0.18180	N	0.149173	T	0.23886	0.0578	M	0.79123	2.44	0.27161	N	0.96116	B	0.29590	0.25	B	0.35813	0.211	T	0.24799	-1.0150	10	0.31617	T	0.26	-0.2375	8.5516	0.33455	0.5877:0.0:0.4123:0.0	.	121	Q9UHE5	NAT8_HUMAN	K	121	ENSP00000272425:M121K	ENSP00000272425:M121K	M	-	2	0	NAT8	73721902	0.001000	0.12720	0.042000	0.18584	0.030000	0.12068	-0.031000	0.12287	-0.445000	0.07159	-1.292000	0.01352	ATG		0.532	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		T	73868394	A	T	73868394	3	4	54	1	0	0	0	0	1	0	0	0	10179	217	8	5	325	5	NAT8	2	73868394	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	9049272	73868394	169330979	22	2657											
SLC4A5	57835	broad.mit.edu	37	2	74479378	74479378	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:74479378C>A	ENST00000377634.4	-	16	1805	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V	SLC4A5_ENST00000358683.4_Missense_Mutation_p.G405V|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G469V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G469V|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G405V|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G469V|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.G469V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G469V					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.G469V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCTGCTTGTTCCGCCGGCCcc	0.662																																																1	Substitution - Missense(1)	ovary(1)	2											63	53	56					2																	74479378		2203	4300	6503	74332886	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1406G>T	2.37:g.74479378C>A	ENSP00000366861:p.Gly469Val		74332886		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763700	0.49574	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	D;D;D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	4.99	2.97	0.34412	.	0.138350	0.33401	N	0.004959	D	0.97498	0.9181	N	0.19112	0.55	0.29702	N	0.840095	B;P;P;D;D	0.54601	0.4;0.848;0.932;0.967;0.959	B;P;P;P;P	0.62184	0.379;0.521;0.899;0.801;0.675	D	0.94867	0.8027	10	0.59425	D	0.04	.	12.3711	0.55256	0.0:0.4799:0.5201:0.0	.	469;469;405;469;469	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	V	469;469;469;405;469;405;469;469;469;469	ENSP00000377587:G469V;ENSP00000251768:G469V;ENSP00000352461:G405V;ENSP00000395804:G469V;ENSP00000351513:G405V;ENSP00000350475:G469V;ENSP00000366859:G469V;ENSP00000366861:G469V;ENSP00000405678:G469V	ENSP00000251768:G469V	G	-	2	0	SLC4A5	74332886	.	.	0.035000	0.18076	0.037000	0.13140	.	.	1.212000	0.43366	0.442000	0.29010	GGA		0.662	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			A	74479378	C	A	74479378	3	1	54	1	0	0	0	0	1	0	0	0	14660	855	30	3	2071	3	SLC4A5	2	74479378	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	610984	74479378	168719995	23	2658											
DCTN1	1639	broad.mit.edu	37	2	74593456	74593456	+	Nonsense_Mutation	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:74593456G>C	ENST00000361874.3	-	23	2992	c.2675C>G	c.(2674-2676)tCa>tGa	p.S892*	DCTN1_ENST00000409868.1_Nonsense_Mutation_p.S875*|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Nonsense_Mutation_p.S758*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.S872*|DCTN1_ENST00000409240.1_Nonsense_Mutation_p.S855*|DCTN1_ENST00000394003.3_Nonsense_Mutation_p.S885*|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409438.1_Nonsense_Mutation_p.S758*	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	892					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.S892*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GATGTTGCATGACTGGCGCAG	0.577																																																1	Substitution - Nonsense(1)	ovary(1)	2											67	69	68					2																	74593456		2203	4300	6503	74446964	SO:0001587	stop_gained	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2675C>G	2.37:g.74593456G>C	ENSP00000354791:p.Ser892*		74446964	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Nonsense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	43	9.852681	0.99280	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	.	.	.	5.44	5.44	0.79542	.	0.000000	0.33382	N	0.004965	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.597	18.2031	0.89846	0.0:0.0:1.0:0.0	.	.	.	.	X	892;885;875;758;758;855;875;872	.	ENSP00000354791:S892X	S	-	2	0	DCTN1	74446964	1.000000	0.71417	0.969000	0.41365	0.974000	0.67602	9.372000	0.97165	2.837000	0.97791	0.655000	0.94253	TCA		0.577	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		C	74593456	G	C	74593456	4	2	54	1	0	0	0	0	0	1	0	0	4306	1294	45	3	1201	3	DCTN1	2	74593456	Nonsense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	114078	74593456	168605917	24	2659											
TACR1	6869	broad.mit.edu	37	2	75276651	75276651	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:75276651A>C	ENST00000305249.5	-	5	1897	c.1132T>G	c.(1132-1134)Tcg>Gcg	p.S378A		NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	378					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.S378A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCCAGGGACGAGGGTGTGGCC	0.612																																					Pancreas(64;62 1268 3653 14826 43765)											1	Substitution - Missense(1)	ovary(1)	2											115	113	114					2																	75276651		2203	4300	6503	75130159	SO:0001583	missense	6869			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.1132T>G	2.37:g.75276651A>C	ENSP00000303522:p.Ser378Ala		75130159	A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.733988	0.00687	.	.	ENSG00000115353	ENST00000305249	T	0.69561	-0.41	4.81	2.35	0.29111	.	0.622890	0.16884	N	0.195589	T	0.34542	0.0901	N	0.05124	-0.11	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.21999	-1.0229	10	0.06891	T	0.86	.	3.7102	0.08417	0.5679:0.0:0.0909:0.3412	.	378	P25103	NK1R_HUMAN	A	378	ENSP00000303522:S378A	ENSP00000303522:S378A	S	-	1	0	TACR1	75130159	1.000000	0.71417	0.001000	0.08648	0.015000	0.08874	3.576000	0.53878	0.308000	0.22923	-0.695000	0.03696	TCG		0.612	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		C	75276651	A	C	75276651	3	2	54	1	0	0	0	0	1	0	0	0	15505	304	11	5	95	5	TACR1	2	75276651	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	683195	75276651	167922722	25	2660											
KCMF1	56888	broad.mit.edu	37	2	85280328	85280328	+	Silent	SNP	A	A	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:85280328A>C	ENST00000409785.4	+	7	1301	c.942A>C	c.(940-942)gcA>gcC	p.A314A		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	314							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A314A(1)		ovary(3)	3						GCGAGCGTGCAGACCGCAGCC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	2											49	53	52					2																	85280328		1973	4173	6146	85133839	SO:0001819	synonymous_variant	56888			AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.942A>C	2.37:g.85280328A>C			85133839	Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Silent	SNP	ENST00000409785.4	37	CCDS46350.1																																																																																				0.463	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		C	85280328	A	C	85280328	2	2	54	1	0	0	0	0	0	0	0	1	8000	175	7	5		5	KCMF1	2	85280328	Silent	SNP	A	TCGA-09-2049-01D-01W-0799-08	10003677	85280328	157919045	26	2661											
TEKT4	150483	broad.mit.edu	37	2	95539776	95539776	+	Silent	SNP	C	C	A	rs186821220		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:95539776C>A	ENST00000295201.4	+	3	773	c.636C>A	c.(634-636)atC>atA	p.I212I	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	212					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.I212I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCTACAACATCGACGAGACCT	0.647																																																1	Substitution - coding silent(1)	ovary(1)	2											87	85	85					2																	95539776		2203	4300	6503	94903503	SO:0001819	synonymous_variant	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.636C>A	2.37:g.95539776C>A			94903503		Silent	SNP	ENST00000295201.4	37	CCDS2005.1																																																																																				0.647	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		A	95539776	C	A	95539776	2	1	54	1	0	0	0	0	0	0	0	1	15755	874	31	3		3	TEKT4	2	95539776	Silent	SNP	C	TCGA-09-2049-01D-01W-0799-08	10259448	95539776	147659597	27	2662											
MYO7B	4648	broad.mit.edu	37	2	128366397	128366397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	-	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:128366397delG	ENST00000409816.2	+	21	2790	c.2758delG	c.(2758-2760)ggcfs	p.G920fs	MYO7B_ENST00000389524.4_Frame_Shift_Del_p.G920fs|MYO7B_ENST00000428314.1_Frame_Shift_Del_p.G920fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	920						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAAGGTGTTCGGCTTCCTCCC	0.637																																																0			2											34	41	39					2																	128366397		2094	4203	6297	128082867	SO:0001589	frameshift_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2758delG	2.37:g.128366397delG	ENSP00000386461:p.Gly920fs		128082867	Q14786|Q8TEE1	Frame_Shift_Del	DEL	ENST00000409816.2	37	CCDS46405.1																																																																																				0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		-	128366397	G	-	128366397	7	5	54	1	0	1	0	1	0	0	0	0	10083	1116	39	0	2840	0	MYO7B	2	128366397	Frame_Shift_Del	DEL	G	TCGA-09-2049-01D-01W-0799-08	32826621	128366397	114832976	28	2663											
HNMT	3176	broad.mit.edu	37	2	138771422	138771422	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:138771422T>A	ENST00000280097.3	+	6	783	c.601T>A	c.(601-603)Tca>Aca	p.S201T	HNMT_ENST00000410115.1_Missense_Mutation_p.S201T|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	201					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)	p.S201T(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GTATATCACATCAGATGACCT	0.453																																																1	Substitution - Missense(1)	ovary(1)	2											136	132	133					2																	138771422		2203	4300	6503	138487892	SO:0001583	missense	3176				CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.601T>A	2.37:g.138771422T>A	ENSP00000280097:p.Ser201Thr		138487892	B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	T	5.741	0.321100	0.10845	.	.	ENSG00000150540	ENST00000410115;ENST00000280097	T;T	0.28255	1.62;1.62	5.98	4.77	0.60923	.	0.158492	0.56097	D	0.000024	T	0.25005	0.0607	L	0.52364	1.645	0.80722	D	1	P	0.35684	0.515	B	0.33121	0.158	T	0.03413	-1.1039	10	0.14656	T	0.56	-4.2244	11.8533	0.52423	0.0:0.0:0.2673:0.7327	.	201	P50135	HNMT_HUMAN	T	201	ENSP00000386940:S201T;ENSP00000280097:S201T	ENSP00000280097:S201T	S	+	1	0	HNMT	138487892	0.997000	0.39634	0.929000	0.37066	0.030000	0.12068	2.612000	0.46343	2.296000	0.77279	0.482000	0.46254	TCA		0.453	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			A	138771422	T	A	138771422	3	1	54	1	0	0	0	0	1	0	0	0	7255	1435	50	5	841	5	HNMT	2	138771422	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	10405025	138771422	104427951	29	2664											
PKP4	8502	broad.mit.edu	37	2	159519565	159519565	+	Nonsense_Mutation	SNP	A	A	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:159519565A>T	ENST00000389759.3	+	14	2480	c.2368A>T	c.(2368-2370)Aag>Tag	p.K790*	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389757.3_Nonsense_Mutation_p.K790*	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	790	Poly-Lys.				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.K790*(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						GGGGAAGAAGAAGAAAAAGAA	0.428										HNSCC(62;0.18)																																						1	Substitution - Nonsense(1)	ovary(1)	2											31	35	34					2																	159519565		2202	4299	6501	159227811	SO:0001587	stop_gained	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.2368A>T	2.37:g.159519565A>T	ENSP00000374409:p.Lys790*		159227811	Q86W91	Nonsense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	A	41	8.640024	0.98897	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	.	.	.	5.72	5.72	0.89469	.	0.051239	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5422	16.0204	0.80478	1.0:0.0:0.0:0.0	.	.	.	.	X	790	.	ENSP00000374407:K790X	K	+	1	0	PKP4	159227811	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.306000	0.78905	2.174000	0.68829	0.533000	0.62120	AAG		0.428	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			T	159519565	A	T	159519565	4	4	54	1	0	0	0	0	0	1	0	0	11987	247	9	5	2418	5	PKP4	2	159519565	Nonsense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	20748143	159519565	83679808	30	2665											
FAP	2191	broad.mit.edu	37	2	163027550	163027550	+	Missense_Mutation	SNP	G	G	T	rs138652824	byFrequency	TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:163027550G>T	ENST00000188790.4	-	26	2429	c.2222C>A	c.(2221-2223)aCg>aAg	p.T741K	FAP_ENST00000443424.1_Missense_Mutation_p.T716K|AC007750.5_ENST00000609668.1_RNA|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.T741K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAAGTGGTTCGTGGACAGGCC	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											147	147	147					2																	163027550		2203	4300	6503	162735796	SO:0001583	missense	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2222C>A	2.37:g.163027550G>T	ENSP00000188790:p.Thr741Lys		162735796		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565030	0.27915	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.25912	1.77;1.77	5.6	3.75	0.43078	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.591873	0.18039	N	0.153678	T	0.09202	0.0227	N	0.11673	0.155	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.14023	0.01;0.0;0.003	T	0.37865	-0.9687	10	0.05436	T	0.98	-22.0058	1.9767	0.03417	0.1524:0.1394:0.4388:0.2694	.	716;220;741	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	K	741;716	ENSP00000188790:T741K;ENSP00000411391:T716K	ENSP00000188790:T741K	T	-	2	0	FAP	162735796	0.058000	0.20735	0.978000	0.43139	0.607000	0.37147	0.616000	0.24344	0.687000	0.31509	0.655000	0.94253	ACG		0.433	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			T	163027550	G	T	163027550	3	4	54	1	0	0	0	0	1	0	0	0	5673	1145	40	3	64	3	FAP	2	163027550	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	3507985	163027550	80171823	31	2666											
EVX2	344191	broad.mit.edu	37	2	176945477	176945477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:176945477G>T	ENST00000308618.4	-	3	925	c.789C>A	c.(787-789)taC>taA	p.Y263*		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	263					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Y263*(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCGTCATCATGTAGGTGTAGA	0.692																																																1	Substitution - Nonsense(1)	ovary(1)	2											30	36	34					2																	176945477		2182	4254	6436	176653723	SO:0001587	stop_gained	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.789C>A	2.37:g.176945477G>T	ENSP00000312385:p.Tyr263*		176653723		Nonsense_Mutation	SNP	ENST00000308618.4	37	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	G	37	6.607650	0.97701	.	.	ENSG00000174279	ENST00000308618	.	.	.	4.51	3.61	0.41365	.	0.124393	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.3904	12.5848	0.56410	0.0834:0.0:0.9166:0.0	.	.	.	.	X	263	.	ENSP00000312385:Y263X	Y	-	3	2	EVX2	176653723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.418000	0.59828	2.355000	0.79922	0.462000	0.41574	TAC		0.692	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			T	176945477	G	T	176945477	4	4	54	1	0	0	0	0	0	1	0	0	5295	1372	48	3	643	3	EVX2	2	176945477	Nonsense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	13917927	176945477	66253896	32	2667											
ZNF385B	151126	broad.mit.edu	37	2	180409567	180409567	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:180409567G>C	ENST00000410066.1	-	4	986	c.383C>G	c.(382-384)cCa>cGa	p.P128R	ZNF385B_ENST00000409692.1_Missense_Mutation_p.P26R|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.P52R|ZNF385B_ENST00000336917.5_Missense_Mutation_p.P26R	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	128	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.P128R(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTAAAATTTGGAAAGAGCCC	0.393																																					Colon(155;204 2491 32774 51842)											1	Substitution - Missense(1)	ovary(1)	2											132	137	135					2																	180409567		2203	4300	6503	180117812	SO:0001583	missense	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.383C>G	2.37:g.180409567G>C	ENSP00000386845:p.Pro128Arg		180117812	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627661	0.87560	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304;ENST00000439340	T;T;T;T;T;T	0.51574	0.94;0.94;0.94;0.94;0.94;0.7	5.97	5.97	0.96955	.	0.047601	0.85682	D	0.000000	T	0.69006	0.3063	M	0.67397	2.05	0.58432	D	0.999998	D;D	0.71674	0.991;0.998	P;D	0.69142	0.881;0.962	T	0.69292	-0.5183	10	0.87932	D	0	-6.6726	20.4387	0.99107	0.0:0.0:1.0:0.0	.	128;52	Q569K4;Q569K4-2	Z385B_HUMAN;.	R	128;26;52;26;26;46	ENSP00000386845:P128R;ENSP00000338225:P26R;ENSP00000386379:P52R;ENSP00000386507:P26R;ENSP00000394038:P26R;ENSP00000399198:P46R	ENSP00000338225:P26R	P	-	2	0	ZNF385B	180117812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.923000	0.87546	2.836000	0.97738	0.655000	0.94253	CCA		0.393	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		C	180409567	G	C	180409567	3	2	54	1	0	0	0	0	1	0	0	0	17877	1348	47	3	1060	3	ZNF385B	2	180409567	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	3464090	180409567	62789806	33	2668											
ITGA4	3676	broad.mit.edu	37	2	182350655	182350655	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:182350655A>T	ENST00000397033.2	+	10	1519	c.1089A>T	c.(1087-1089)aaA>aaT	p.K363N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	363					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.K363N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAAGTGACAAATATGCTGCAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											170	160	163					2																	182350655		1862	4107	5969	182058900	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1089A>T	2.37:g.182350655A>T	ENSP00000380227:p.Lys363Asn		182058900	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512730	0.27123	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.11063	2.81;2.81	5.87	5.87	0.94306	.	0.291855	0.39615	N	0.001306	T	0.07369	0.0186	L	0.27053	0.805	0.31310	N	0.68721	B;P	0.40000	0.409;0.698	B;B	0.36030	0.216;0.115	T	0.15578	-1.0432	10	0.19147	T	0.46	.	10.3294	0.43814	0.8838:0.0:0.1162:0.0	.	363;363	E7EP60;P13612	.;ITA4_HUMAN	N	363	ENSP00000380227:K363N;ENSP00000233573:K363N	ENSP00000233573:K363N	K	+	3	2	ITGA4	182058900	0.996000	0.38824	1.000000	0.80357	0.967000	0.64934	0.472000	0.22116	2.234000	0.73211	0.477000	0.44152	AAA		0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			T	182350655	A	T	182350655	3	4	54	1	0	0	0	0	1	0	0	0	7878	98	4	5	1127	5	ITGA4	2	182350655	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	1941088	182350655	60848718	34	2669											
CERKL	375298	broad.mit.edu	37	2	182423358	182423358	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:182423358C>G	ENST00000339098.5	-	6	832	c.833G>C	c.(832-834)gGg>gCg	p.G278A	CERKL_ENST00000409440.3_Missense_Mutation_p.G234A|CERKL_ENST00000410087.3_Missense_Mutation_p.G252A|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	278	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.G252A(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGTTTCCATCCCAGCATTCTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											111	115	114					2																	182423358		2014	4166	6180	182131603	SO:0001583	missense	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.833G>C	2.37:g.182423358C>G	ENSP00000341159:p.Gly278Ala		182131603	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928409	0.92389	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000339098	T;T;T	0.18338	2.22;2.41;2.48	5.93	5.93	0.95920	Diacylglycerol kinase, catalytic domain (2);	0.162184	0.48767	D	0.000161	T	0.30541	0.0768	L	0.37507	1.11	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.993	D;D;P	0.85130	0.997;0.954;0.846	T	0.01456	-1.1350	10	0.05351	T	0.99	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	234;252;278	B4DEY1;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	A	252;234;278	ENSP00000386725:G252A;ENSP00000387080:G234A;ENSP00000341159:G278A	ENSP00000341159:G278A	G	-	2	0	CERKL	182131603	1.000000	0.71417	0.342000	0.25602	0.989000	0.77384	6.207000	0.72159	2.814000	0.96858	0.591000	0.81541	GGG		0.473	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			G	182423358	C	G	182423358	3	3	54	1	0	0	0	0	1	0	0	0	3268	623	22	3	879	3	CERKL	2	182423358	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	72703	182423358	60776015	35	2670											
MDH1B	130752	broad.mit.edu	37	2	207613841	207613841	+	Silent	SNP	T	T	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:207613841T>C	ENST00000374412.3	-	7	1394	c.1119A>G	c.(1117-1119)ggA>ggG	p.G373G	MDH1B_ENST00000454776.2_Silent_p.G373G|MDH1B_ENST00000449792.1_Silent_p.G275G|MDH1B_ENST00000392214.2_Silent_p.G160G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	373					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.G373G(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CCAAAATGCCTCCAAATTGTC	0.403																																					Pancreas(76;29 1355 28675 37177 51207)											1	Substitution - coding silent(1)	ovary(1)	2											139	113	122					2																	207613841		2203	4300	6503	207322086	SO:0001819	synonymous_variant	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1119A>G	2.37:g.207613841T>C			207322086	A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	CCDS33365.1																																																																																				0.403	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		C	207613841	T	C	207613841	2	2	54	1	0	0	0	0	0	0	0	1	9409	1538	54	4		4	MDH1B	2	207613841	Silent	SNP	T	TCGA-09-2049-01D-01W-0799-08	25190483	207613841	35585532	36	2671											
TRAF3IP1	26146	broad.mit.edu	37	2	239264709	239264709	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr2:239264709A>T	ENST00000373327.4	+	15	1899	c.1677A>T	c.(1675-1677)aaA>aaT	p.K559N	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K559N|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K493N	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	559	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.K559N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGTCACCCAAACCTGGGGAGA	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											49	49	49					2																	239264709		2203	4300	6503	238929448	SO:0001583	missense	26146			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1677A>T	2.37:g.239264709A>T	ENSP00000362424:p.Lys559Asn		238929448	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	a	16.69	3.193651	0.58017	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.15139	2.45;2.45;2.45	5.52	-0.659	0.11424	.	0.413038	0.26394	N	0.024624	T	0.29256	0.0728	M	0.71036	2.16	0.09310	N	1	D;D	0.60160	0.963;0.987	P;P	0.60286	0.723;0.872	T	0.10706	-1.0618	10	0.33141	T	0.24	-9.3265	9.0606	0.36431	0.5265:0.0:0.4735:0.0	.	493;559	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	N	493;559;559;493	ENSP00000375851:K493N;ENSP00000362424:K559N;ENSP00000375852:K559N	ENSP00000362424:K559N	K	+	3	2	TRAF3IP1	238929448	0.000000	0.05858	0.002000	0.10522	0.895000	0.52256	-0.028000	0.12350	-0.013000	0.14199	0.529000	0.55759	AAA		0.348	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		T	239264709	A	T	239264709	3	4	54	1	0	0	0	0	1	0	0	0	16440	40	2	5	1735	5	TRAF3IP1	2	239264709	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	31650868	239264709	3934664	37	2672											
ANO10	55129	broad.mit.edu	37	3	43618190	43618190	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr3:43618190A>C	ENST00000292246.3	-	6	1326	c.1156T>G	c.(1156-1158)Tca>Gca	p.S386A	ANO10_ENST00000451430.2_Missense_Mutation_p.S275A|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000414522.2_Missense_Mutation_p.S386A|ANO10_ENST00000396091.3_Missense_Mutation_p.S320A	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	386					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.S386A(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TTACCCCATGAAGTTAAAAAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											50	48	48					3																	43618190		2203	4300	6503	43593194	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1156T>G	3.37:g.43618190A>C	ENSP00000292246:p.Ser386Ala		43593194	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	A	12.06	1.825257	0.32237	.	.	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.83	3.42	0.39159	.	0.239254	0.43579	D	0.000544	T	0.51500	0.1678	L	0.43152	1.355	0.09310	N	0.999998	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.12837	0.007;0.008;0.005;0.008	T	0.48896	-0.8994	10	0.66056	D	0.02	.	8.4919	0.33106	0.8009:0.1319:0.0673:0.0	.	275;386;320;386	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	A	386;320;386;275	ENSP00000292246:S386A;ENSP00000379398:S320A;ENSP00000396990:S386A;ENSP00000394119:S275A	ENSP00000292246:S386A	S	-	1	0	ANO10	43593194	0.997000	0.39634	0.012000	0.15200	0.978000	0.69477	3.816000	0.55658	0.462000	0.27095	0.533000	0.62120	TCA		0.428	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		C	43618190	A	C	43618190	3	2	54	1	0	0	0	0	1	0	0	0	696	246	9	5	858	5	ANO10	3	43618190	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08		43618190	154404240	38	2673											
VPRBP	9730	broad.mit.edu	37	3	51517772	51517772	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr3:51517772G>A	ENST00000335891.5	-	1	82	c.73C>T	c.(73-75)Cat>Tat	p.H25Y				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	25					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.H25Y(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCACTGCCATGTTCCTTTTCC	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											148	133	138					3																	51517772		1925	4128	6053	51492812	SO:0001583	missense	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.73C>T	3.37:g.51517772G>A	ENSP00000338857:p.His25Tyr		51492812	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	G	17.22	3.333180	0.60853	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.58060	0.36;0.79	5.77	4.9	0.64082	.	0.141403	0.64402	D	0.000005	T	0.51109	0.1655	L	0.58810	1.83	0.23712	N	0.997048	B	0.25105	0.118	B	0.25884	0.064	T	0.51764	-0.8664	10	0.66056	D	0.02	-17.2361	14.3458	0.66662	0.0716:0.0:0.9284:0.0	.	25	Q9Y4B6	VPRBP_HUMAN	Y	25	ENSP00000338857:H25Y;ENSP00000421724:H25Y	ENSP00000338857:H25Y	H	-	1	0	VPRBP	51492812	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.380000	0.79704	1.451000	0.47736	0.655000	0.94253	CAT		0.428	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		A	51517772	G	A	51517772	3	1	54	1	0	0	0	0	1	0	0	0	17185	1377	48	2	4379	2	VPRBP	3	51517772	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	7899582	51517772	146504658	39	2674											
GPR15	2838	broad.mit.edu	37	3	98251890	98251890	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr3:98251890C>A	ENST00000284311.3	+	1	1148	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	338					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T338N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		AGTCACCTCACTAAGGCTCTC	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											80	83	82					3																	98251890		2203	4300	6503	99734580	SO:0001583	missense	2838				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.1013C>A	3.37:g.98251890C>A	ENSP00000284311:p.Thr338Asn		99734580	Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717678	0.30413	.	.	ENSG00000154165	ENST00000284311	T	0.68025	-0.3	5.08	3.16	0.36331	.	0.275700	0.25442	N	0.030645	T	0.52108	0.1714	N	0.24115	0.695	0.29851	N	0.828422	B	0.24092	0.097	B	0.26770	0.073	T	0.57934	-0.7725	10	0.72032	D	0.01	-8.9357	11.4748	0.50291	0.0:0.6308:0.3692:0.0	.	338	P49685	GPR15_HUMAN	N	338	ENSP00000284311:T338N	ENSP00000284311:T338N	T	+	2	0	GPR15	99734580	0.000000	0.05858	0.995000	0.50966	0.951000	0.60555	0.648000	0.24828	1.495000	0.48549	0.655000	0.94253	ACT		0.493	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			A	98251890	C	A	98251890	3	1	54	1	0	0	0	0	1	0	0	0	6655	565	20	3	1015	3	GPR15	3	98251890	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	46734118	98251890	99770540	40	2675											
TMEM45A	55076	broad.mit.edu	37	3	100287741	100287741	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr3:100287741A>T	ENST00000323523.4	+	5	977	c.664A>T	c.(664-666)Acc>Tcc	p.T222S	TMEM45A_ENST00000403410.1_Missense_Mutation_p.T238S	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	222						integral component of membrane (GO:0016021)		p.T222S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TTTGTTTCTCACCATATGCTT	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											250	241	244					3																	100287741		2203	4300	6503	101770431	SO:0001583	missense	55076			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.664A>T	3.37:g.100287741A>T	ENSP00000319009:p.Thr222Ser		101770431	Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.817000	0.32145	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.49720	0.77;0.77	5.81	0.492	0.16872	.	0.237699	0.49305	N	0.000144	T	0.29783	0.0744	L	0.28649	0.875	0.29306	N	0.868322	B	0.32302	0.363	B	0.31812	0.136	T	0.13683	-1.0500	10	0.45353	T	0.12	-1.7304	5.9822	0.19413	0.5561:0.0:0.0687:0.3752	.	222	Q9NWC5	TM45A_HUMAN	S	222;238	ENSP00000319009:T222S;ENSP00000385089:T238S	ENSP00000319009:T222S	T	+	1	0	TMEM45A	101770431	0.977000	0.34250	0.660000	0.29694	0.649000	0.38597	2.301000	0.43628	-0.133000	0.11537	0.454000	0.30748	ACC		0.373	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		T	100287741	A	T	100287741	3	4	54	1	0	0	0	0	1	0	0	0	16169	159	6	5	678	5	TMEM45A	3	100287741	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	2035851	100287741	97734689	41	2676											
GOLGB1	2804	broad.mit.edu	37	3	121416134	121416134	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr3:121416134T>G	ENST00000340645.5	-	13	3346	c.3221A>C	c.(3220-3222)cAg>cCg	p.Q1074P	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q1079P	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1074					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1074P(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTATATGCTGTAGTTCCAC	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											112	113	113					3																	121416134		2203	4299	6502	122898824	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3221A>C	3.37:g.121416134T>G	ENSP00000341848:p.Gln1074Pro		122898824	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.014|0.014	-1.597949|-1.597949	0.00857|0.00857	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.24908|.	2.42;2.42;1.83|.	5.23|5.23	2.74|2.74	0.32292|0.32292	.|.	0.453943|.	0.20585|.	N|.	0.089454|.	T|T	0.22205|0.22205	0.0535|0.0535	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.23540|.	0.087;0.022;0.087;0.022;0.087|.	B;B;B;B;B|.	0.27796|.	0.083;0.036;0.083;0.036;0.083|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.51188|.	T|.	0.08|.	.|.	8.9934|8.9934	0.36037|0.36037	0.293:0.0:0.0:0.707|0.293:0.0:0.0:0.707	.|.	999;1038;1079;1079;1074|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	P|R	1074;1079;1038;886|945	ENSP00000341848:Q1074P;ENSP00000377275:Q1079P;ENSP00000418231:Q1038P|.	ENSP00000341848:Q1074P|.	Q|S	-|-	2|1	0|0	GOLGB1|GOLGB1	122898824|122898824	0.368000|0.368000	0.25031|0.25031	0.028000|0.028000	0.17463|0.17463	0.188000|0.188000	0.23474|0.23474	2.716000|2.716000	0.47219|0.47219	0.388000|0.388000	0.25054|0.25054	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.353	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		G	121416134	T	G	121416134	3	3	54	1	0	0	0	0	1	0	0	0	6565	1580	55	5	6598	5	GOLGB1	3	121416134	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	21128393	121416134	76606296	42	2677											
COL6A6	131873	broad.mit.edu	37	3	130300562	130300562	+	Silent	SNP	T	T	A	rs373427912		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr3:130300562T>A	ENST00000358511.6	+	8	3736	c.3705T>A	c.(3703-3705)acT>acA	p.T1235T	COL6A6_ENST00000453409.2_Silent_p.T1235T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1235	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.T1235T(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCACAGAGACTCAGGTCAGTG	0.443																																																1	Substitution - coding silent(1)	ovary(1)	3											97	96	96					3																	130300562		2016	4174	6190	131783252	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3705T>A	3.37:g.130300562T>A			131783252	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.443	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130300562	T	A	130300562	2	1	54	1	0	0	0	0	0	0	0	1	3703	1538	54	5		5	COL6A6	3	130300562	Silent	SNP	T	TCGA-09-2049-01D-01W-0799-08	8884428	130300562	67721868	43	2678											
PCOLCE2	26577	broad.mit.edu	37	3	142542456	142542456	+	Splice_Site	SNP	A	A	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr3:142542456A>G	ENST00000295992.3	-	7	1173	c.867T>C	c.(865-867)ggT>ggC	p.G289G	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	289					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.G289G(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGGGTTTTAAACCTTAATTCA	0.363																																																1	Substitution - coding silent(1)	ovary(1)	3											61	65	64					3																	142542456		2203	4300	6503	144025146	SO:0001630	splice_region_variant	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.866-1T>C	3.37:g.142542456A>G			144025146	B2RCH9|D3DNG4|Q9BRH3	Silent	SNP	ENST00000295992.3	37	CCDS3127.1																																																																																				0.363	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	Silent	G	142542456	A	G	142542456	5	3	54	1	0	0	0	0	0	0	1	0	11595	57	2	4	392	4	PCOLCE2	3	142542456	Splice_Site	SNP	A	TCGA-09-2049-01D-01W-0799-08	12241894	142542456	55479974	44	2679											
IGSF10	285313	broad.mit.edu	37	3	151166477	151166477	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr3:151166477T>C	ENST00000282466.3	-	4	1291	c.1292A>G	c.(1291-1293)cAa>cGa	p.Q431R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	431					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.Q431R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTTGGTCTTGCATTAACCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											124	113	117					3																	151166477		2203	4300	6503	152649167	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1292A>G	3.37:g.151166477T>C	ENSP00000282466:p.Gln431Arg		152649167	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102702	0.76983	.	.	ENSG00000152580	ENST00000282466	D	0.92149	-2.98	5.08	5.08	0.68730	.	0.000000	0.44688	D	0.000428	D	0.95667	0.8591	M	0.81802	2.56	0.47949	D	0.999556	D	0.89917	1.0	D	0.83275	0.996	D	0.94842	0.8006	10	0.30854	T	0.27	.	14.8499	0.70289	0.0:0.0:0.0:1.0	.	431	Q6WRI0	IGS10_HUMAN	R	431	ENSP00000282466:Q431R	ENSP00000282466:Q431R	Q	-	2	0	IGSF10	152649167	1.000000	0.71417	0.971000	0.41717	0.928000	0.56348	7.698000	0.84413	1.925000	0.55765	0.454000	0.30748	CAA		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151166477	T	C	151166477	3	2	54	1	0	0	0	0	1	0	0	0	7597	1812	63	4	6639	4	IGSF10	3	151166477	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	8624021	151166477	46855953	45	2680											
ZDHHC19	131540	broad.mit.edu	37	3	195925218	195925218	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr3:195925218G>A	ENST00000296326.3	-	7	957	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	293						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A293V(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AGAGGTTGGGGCTGGGGGGTT	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											30	34	33					3																	195925218		1989	4167	6156	197409615	SO:0001583	missense	131540			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.878C>T	3.37:g.195925218G>A	ENSP00000296326:p.Ala293Val		197409615	A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	G	9.538	1.112626	0.20795	.	.	ENSG00000163958	ENST00000296326	T	0.32515	1.45	4.81	-7.05	0.01573	.	1.163700	0.06511	N	0.738060	T	0.21841	0.0526	L	0.60455	1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26467	-1.0102	10	0.33141	T	0.24	-4.319	2.4929	0.04615	0.3961:0.3168:0.1833:0.1037	.	293	Q8WVZ1	ZDH19_HUMAN	V	293	ENSP00000296326:A293V	ENSP00000296326:A293V	A	-	2	0	ZDHHC19	197409615	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.406000	0.21032	-1.557000	0.01692	-0.302000	0.09304	GCC		0.627	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		A	195925218	G	A	195925218	3	1	54	1	0	0	0	0	1	0	0	0	17609	1203	42	2	55	2	ZDHHC19	3	195925218	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	44758741	195925218	2097212	46	2681											
GNRHR	2798	broad.mit.edu	37	4	68619928	68619928	+	Silent	SNP	A	A	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr4:68619928A>G	ENST00000226413.4	-	1	150	c.126T>C	c.(124-126)acT>acC	p.T42T	GNRHR_ENST00000420975.2_Silent_p.T42T|UBA6-AS1_ENST00000502758.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	42					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)	p.T42T(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	AAAGGAAGAAAGTAACCGTCA	0.443																																																1	Substitution - coding silent(1)	ovary(1)	4											90	97	95					4																	68619928		2203	4300	6503	68302523	SO:0001819	synonymous_variant	2798				CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.126T>C	4.37:g.68619928A>G			68302523	O75793|Q14D13|Q92644	Silent	SNP	ENST00000226413.4	37	CCDS3517.1																																																																																				0.443	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			G	68619928	A	G	68619928	2	3	54	1	0	0	0	0	0	0	0	1	6549	59	3	4		4	GNRHR	4	68619928	Silent	SNP	A	TCGA-09-2049-01D-01W-0799-08		68619928	122534348	47	2682											
MMAA	166785	broad.mit.edu	37	4	146575150	146575150	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr4:146575150T>C	ENST00000281317.5	+	6	2034	c.824T>C	c.(823-825)aTc>aCc	p.I275T	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	275					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.I275T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTTAGGGTATCAAAAGGGGT	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											182	180	181					4																	146575150		2203	4300	6503	146794600	SO:0001583	missense	166785			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.824T>C	4.37:g.146575150T>C	ENSP00000281317:p.Ile275Thr		146794600	B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665883	0.88251	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.91295	-2.82	5.78	5.78	0.91487	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96849	0.8971	H	0.96748	3.875	0.80722	D	1	D	0.58970	0.984	D	0.64687	0.928	D	0.98128	1.0429	10	0.87932	D	0	-13.1358	16.1215	0.81361	0.0:0.0:0.0:1.0	.	275	Q8IVH4	MMAA_HUMAN	T	275	ENSP00000281317:I275T	ENSP00000281317:I275T	I	+	2	0	MMAA	146794600	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.665000	0.83852	2.208000	0.71279	0.528000	0.53228	ATC		0.368	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			C	146575150	T	C	146575150	3	2	54	1	0	0	0	0	1	0	0	0	9639	1435	50	4	842	4	MMAA	4	146575150	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	77955222	146575150	44579126	48	2683											
PDLIM3	27295	broad.mit.edu	37	4	186429471	186429471	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr4:186429471C>G	ENST00000284770.5	-	5	717	c.644G>C	c.(643-645)gGg>gCg	p.G215A	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Intron	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	215					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)	p.G215A(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		AGGTGTTTCCCCTAGGGCTGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											135	126	129					4																	186429471		2203	4300	6503	186666465	SO:0001583	missense	27295			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.644G>C	4.37:g.186429471C>G	ENSP00000284770:p.Gly215Ala		186666465	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221561	0.22457	.	.	ENSG00000154553	ENST00000284770	T	0.36699	1.24	5.95	5.95	0.96441	.	0.435309	0.28706	N	0.014415	T	0.31765	0.0807	L	0.42245	1.32	0.80722	D	1	B	0.24882	0.113	B	0.22753	0.041	T	0.21245	-1.0251	10	0.05620	T	0.96	-7.8792	20.3748	0.98911	0.0:1.0:0.0:0.0	.	215	Q53GG5	PDLI3_HUMAN	A	215	ENSP00000284770:G215A	ENSP00000284770:G215A	G	-	2	0	PDLIM3	186666465	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.359000	0.66074	2.817000	0.96982	0.563000	0.77884	GGG		0.408	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		G	186429471	C	G	186429471	3	3	54	1	0	0	0	0	1	0	0	0	11681	623	22	3	466	3	PDLIM3	4	186429471	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	39854321	186429471	4724805	49	2684											
FAM105B	90268	broad.mit.edu	37	5	14681611	14681611	+	Silent	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr5:14681611G>T	ENST00000284274.4	+	4	441	c.363G>T	c.(361-363)cgG>cgT	p.R121R		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		121	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.R121R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CCTCCATACGGCGAGTCCGTG	0.532																																																1	Substitution - coding silent(1)	ovary(1)	5											94	102	99					5																	14681611		2046	4197	6243	14734611	SO:0001819	synonymous_variant	90268																														ENST00000284274.4:c.363G>T	5.37:g.14681611G>T			14734611	D3DTD3|Q8NAS0|Q96IA3	Silent	SNP	ENST00000284274.4	37	CCDS43302.1																																																																																				0.532	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			T	14681611	G	T	14681611	2	4	54	1	0	0	0	0	0	0	0	1	5388	1190	42	3		3	FAM105B	5	14681611	Silent	SNP	G	TCGA-09-2049-01D-01W-0799-08		14681611	166233649	50	2685											
RICTOR	253260	broad.mit.edu	37	5	38949832	38949832	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr5:38949832G>A	ENST00000357387.3	-	31	4148	c.4118C>T	c.(4117-4119)tCc>tTc	p.S1373F	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1373F	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.S1373F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTTAATCTGGACTCAAAACT	0.363																																																1	Substitution - Missense(1)	ovary(1)	5											164	155	158					5																	38949832		2203	4299	6502	38985589	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4118C>T	5.37:g.38949832G>A	ENSP00000349959:p.Ser1373Phe		38985589		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763697	0.69878	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.62639	0.01;0.24	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.78196	-0.2298	10	0.87932	D	0	-8.0177	20.5752	0.99366	0.0:0.0:1.0:0.0	.	1373;1373	Q6R327;Q6R327-3	RICTR_HUMAN;.	F	1373	ENSP00000349959:S1373F;ENSP00000296782:S1373F	ENSP00000296782:S1373F	S	-	2	0	RICTOR	38985589	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.572000	0.82409	2.868000	0.98415	0.557000	0.71058	TCC		0.363	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		A	38949832	G	A	38949832	3	1	54	1	0	0	0	0	1	0	0	0	13361	1174	41	2	1040	2	RICTOR	5	38949832	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	24268221	38949832	141965428	51	2686											
TRIM36	55521	broad.mit.edu	37	5	114469806	114469806	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr5:114469806C>T	ENST00000282369.3	-	8	1406	c.1285G>A	c.(1285-1287)Gtt>Att	p.V429I	TRIM36_ENST00000513154.1_Missense_Mutation_p.V417I|TRIM36_ENST00000514154.1_Missense_Mutation_p.V274I	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	429	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V429I(1)|p.V429F(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGTTATAAACTTTGCTCTGT	0.328																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	5											95	88	90					5																	114469806		2202	4300	6502	114497705	SO:0001583	missense	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1285G>A	5.37:g.114469806C>T	ENSP00000282369:p.Val429Ile		114497705	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502929	0.26949	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.64991	0.56;0.68;-0.13	5.28	4.29	0.51040	Fibronectin, type III (3);	0.218661	0.47455	D	0.000236	T	0.35480	0.0933	N	0.05383	-0.06	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.15052	0.006;0.012	T	0.30179	-0.9987	10	0.41790	T	0.15	.	3.4177	0.07381	0.0:0.6229:0.0:0.3771	.	417;429	E9PFI8;Q9NQ86	.;TRI36_HUMAN	I	429;417;274	ENSP00000282369:V429I;ENSP00000423934:V417I;ENSP00000424259:V274I	ENSP00000282369:V429I	V	-	1	0	TRIM36	114497705	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.485000	0.35519	2.467000	0.83353	0.563000	0.77884	GTT		0.328	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		T	114469806	C	T	114469806	3	4	54	1	0	0	0	0	1	0	0	0	16510	565	20	2	913	2	TRIM36	5	114469806	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	75519974	114469806	66445454	52	2687											
CHSY3	337876	broad.mit.edu	37	5	129521388	129521388	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr5:129521388A>T	ENST00000305031.4	+	3	2911	c.2553A>T	c.(2551-2553)ttA>ttT	p.L851F		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	851					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.L851F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGATGTGCTTAGGATCCAAGG	0.448																																																1	Substitution - Missense(1)	ovary(1)	5											81	78	79					5																	129521388		2203	4300	6503	129549287	SO:0001583	missense	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2553A>T	5.37:g.129521388A>T	ENSP00000302629:p.Leu851Phe		129549287	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.291775	0.40594	.	.	ENSG00000198108	ENST00000305031	T	0.36157	1.27	4.06	0.253	0.15551	.	0.000000	0.38217	N	0.001761	T	0.53610	0.1807	M	0.79926	2.475	0.42842	D	0.99405	D	0.63046	0.992	D	0.66497	0.944	T	0.52881	-0.8516	9	.	.	.	.	8.9557	0.35816	0.6956:0.0:0.3044:0.0	.	851	Q70JA7	CHSS3_HUMAN	F	851	ENSP00000302629:L851F	.	L	+	3	2	CHSY3	129549287	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.586000	0.23894	0.045000	0.15804	0.528000	0.53228	TTA		0.448	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		T	129521388	A	T	129521388	3	4	54	1	0	0	0	0	1	0	0	0	3413	417	15	5	2563	5	CHSY3	5	129521388	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	15051582	129521388	51393872	53	2688											
GLRA1	2741	broad.mit.edu	37	5	151234691	151234691	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr5:151234691C>A	ENST00000455880.2	-	6	893	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S	GLRA1_ENST00000545569.1_Missense_Mutation_p.A120S|GLRA1_ENST00000274576.4_Missense_Mutation_p.A203S|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	203					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.A203S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCTGCACGGCTCCCTGTTCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	5											158	159	158					5																	151234691		2203	4300	6503	151214884	SO:0001583	missense	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.607G>T	5.37:g.151234691C>A	ENSP00000411593:p.Ala203Ser		151214884	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819882	0.71028	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	T;T;T	0.78595	-1.19;-1.19;-1.19	4.51	4.51	0.55191	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	N	0.21194	0.64	0.58432	D	0.999999	B;B;B	0.20988	0.05;0.025;0.041	B;B;B	0.26517	0.07;0.052;0.042	T	0.61496	-0.7051	10	0.14656	T	0.56	.	17.6102	0.88050	0.0:1.0:0.0:0.0	.	203;120;203	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	S	203;203;120	ENSP00000274576:A203S;ENSP00000411593:A203S;ENSP00000445913:A120S	ENSP00000274576:A203S	A	-	1	0	GLRA1	151214884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.835000	0.69368	2.217000	0.71921	0.491000	0.48974	GCC		0.478	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			A	151234691	C	A	151234691	3	1	54	1	0	0	0	0	1	0	0	0	6454	797	28	3	782	3	GLRA1	5	151234691	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	21713303	151234691	29680569	54	2689											
OR12D3	81797	broad.mit.edu	37	6	29342727	29342727	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr6:29342727A>T	ENST00000396806.3	-	1	341	c.338T>A	c.(337-339)cTg>cAg	p.L113Q	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L113Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CATGATAGCCAGTAAAATGGC	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											55	57	57					6																	29342727		1510	2709	4219	29450706	SO:0001583	missense	81797				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.338T>A	6.37:g.29342727A>T	ENSP00000380023:p.Leu113Gln		29450706	A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.611762	0.46631	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.02345	4.33	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15349	0.0370	H	0.96111	3.77	0.38716	D	0.95332	D	0.76494	0.999	D	0.73380	0.98	T	0.12293	-1.0553	9	0.87932	D	0	-4.9813	13.0217	0.58791	1.0:0.0:0.0:0.0	.	113	Q9UGF7	O12D3_HUMAN	Q	113	ENSP00000380023:L113Q	ENSP00000366348:L113Q	L	-	2	0	OR12D3	29450706	0.932000	0.31603	0.082000	0.20525	0.172000	0.22775	6.500000	0.73687	1.738000	0.51689	0.164000	0.16699	CTG		0.502	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			T	29342727	A	T	29342727	3	4	54	1	0	0	0	0	1	0	0	0	10932	188	7	5	616	5	OR12D3	6	29342727	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08		29342727	141772340	55	2690											
GABBR1	2550	broad.mit.edu	37	6	29589568	29589568	+	Silent	SNP	T	T	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr6:29589568T>A	ENST00000377034.4	-	10	1427	c.1092A>T	c.(1090-1092)ggA>ggT	p.G364G	GABBR1_ENST00000377012.4_Silent_p.G247G|GABBR1_ENST00000355973.3_Silent_p.G247G|GABBR1_ENST00000377016.4_Silent_p.G302G|GABBR1_ENST00000376977.3_Silent_p.G364G	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	364					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.G364G(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CATAGAAAAGTCCCACGATGA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	6											59	62	61					6																	29589568		2203	4300	6503	29697547	SO:0001819	synonymous_variant	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1092A>T	6.37:g.29589568T>A			29697547	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																				0.532	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			A	29589568	T	A	29589568	2	1	54	1	0	0	0	0	0	0	0	1	6155	1654	58	5		5	GABBR1	6	29589568	Silent	SNP	T	TCGA-09-2049-01D-01W-0799-08	246841	29589568	141525499	56	2691											
VPS52	6293	broad.mit.edu	37	6	33236364	33236364	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr6:33236364G>C	ENST00000445902.2	-	7	829	c.611C>G	c.(610-612)gCc>gGc	p.A204G	VPS52_ENST00000436044.2_Missense_Mutation_p.A79G|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	204					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.A204G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GGCTGCCTTGGCATCCAGCTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	6											68	63	65					6																	33236364		1510	2707	4217	33344342	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.611C>G	6.37:g.33236364G>C	ENSP00000409952:p.Ala204Gly		33344342	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397937	0.42512	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.1	5.1	0.69264	.	0.282046	0.40385	N	0.001119	T	0.10637	0.0260	N	0.04508	-0.205	0.31186	N	0.701512	B;B;B	0.25563	0.129;0.046;0.129	B;B;B	0.30251	0.113;0.061;0.113	T	0.09975	-1.0650	9	0.30078	T	0.28	-15.4145	11.3212	0.49424	0.0:0.0:0.8186:0.1814	.	182;79;204	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	G	204;182;79	.	ENSP00000414785:A182G	A	-	2	0	VPS52	33344342	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.090000	0.41682	2.834000	0.97654	0.573000	0.79308	GCC		0.607	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		C	33236364	G	C	33236364	3	2	54	1	0	0	0	0	1	0	0	0	17214	1203	42	3	1616	3	VPS52	6	33236364	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	3646796	33236364	137878703	57	2692											
TAPBP	6892	broad.mit.edu	37	6	33272149	33272149	+	Missense_Mutation	SNP	G	G	A	rs145933787		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr6:33272149G>A	ENST00000489157.1	-	4	1086	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	TAPBP_ENST00000456592.2_Missense_Mutation_p.R379C|TAPBP_ENST00000475304.1_Missense_Mutation_p.R397C|TAPBP_ENST00000434618.2_Missense_Mutation_p.R379C|TAPBP_ENST00000426633.2_Missense_Mutation_p.R379C			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	379	Ig-like C1-type.				amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)	p.R379C(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CAGGCATAGCGTGCCCCATGC	0.652																																																1	Substitution - Missense(1)	ovary(1)	6						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	43	44	44		1135,1135,874	4.7	0.7	6	dbSNP_134	44	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense	TAPBP	NM_003190.4,NM_172208.2,NM_172209.2	180,180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	379/449,379/505,292/362	33272149	1,13003	2203	4299	6502	33380127	SO:0001583	missense	6892			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.874C>T	6.37:g.33272149G>A	ENSP00000419659:p.Arg292Cys		33380127	A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629014	0.67015	0.0	1.16E-4	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07	5.57	4.68	0.58851	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.511841	0.21547	N	0.072781	T	0.07458	0.0188	M	0.62723	1.935	0.32513	N	0.537274	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	P;D;D;P;P	0.70935	0.777;0.94;0.971;0.83;0.857	T	0.03034	-1.1080	10	0.62326	D	0.03	-11.1366	11.6206	0.51115	0.0:0.0:0.822:0.178	.	379;292;397;379;379	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	C	379;397;292;379;379;379	ENSP00000395701:R379C;ENSP00000417949:R397C;ENSP00000419659:R292C;ENSP00000404833:R379C;ENSP00000387803:R379C	ENSP00000404833:R379C	R	-	1	0	TAPBP	33380127	0.191000	0.23288	0.660000	0.29694	0.840000	0.47671	1.214000	0.32419	1.321000	0.45227	0.549000	0.68633	CGC		0.652	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			A	33272149	G	A	33272149	3	1	54	1	0	0	0	0	1	0	0	0	15552	1145	40	1	407	1	TAPBP	6	33272149	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	35785	33272149	137842918	58	2693											
GFRAL	389400	broad.mit.edu	37	6	55216051	55216051	+	Splice_Site	SNP	G	G	T	rs368896330		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr6:55216051G>T	ENST00000340465.2	+	5	457	c.371G>T	c.(370-372)gGa>gTa	p.G124V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	124					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G124V(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGCTTTCAGGATTCAAAGGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	6											200	176	184					6																	55216051		2203	4300	6503	55324010	SO:0001630	splice_region_variant	389400			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.371-1G>T	6.37:g.55216051G>T			55324010	Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134587	0.09032	.	.	ENSG00000187871	ENST00000340465	T	0.30981	1.51	5.73	3.96	0.45880	.	0.444395	0.23894	N	0.043511	T	0.13372	0.0324	M	0.61703	1.905	0.80722	D	1	B	0.14805	0.011	B	0.15484	0.013	T	0.04242	-1.0966	9	.	.	.	.	7.3059	0.26447	0.1565:0.1761:0.6675:0.0	.	124	Q6UXV0	GFRAL_HUMAN	V	124	ENSP00000343636:G124V	.	G	+	2	0	GFRAL	55324010	0.135000	0.22499	0.281000	0.24762	0.066000	0.16364	0.349000	0.20055	0.881000	0.35993	-0.137000	0.14449	GGA		0.433	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	Missense_Mutation	T	55216051	G	T	55216051	5	4	54	1	0	0	0	0	0	0	1	0	6351	1188	41	3	389	3	GFRAL	6	55216051	Splice_Site	SNP	G	TCGA-09-2049-01D-01W-0799-08	21943902	55216051	115899016	59	2694											
EPHA7	2045	broad.mit.edu	37	6	94120729	94120729	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr6:94120729C>T	ENST00000369303.4	-	3	506	c.322G>A	c.(322-324)Gat>Aat	p.D108N	EPHA7_ENST00000369297.1_Missense_Mutation_p.D108N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	108	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.D108N(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGTTACAATCCCTCAGGGTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											118	120	119					6																	94120729		2203	4299	6502	94177450	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.322G>A	6.37:g.94120729C>T	ENSP00000358309:p.Asp108Asn		94177450	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043749	0.93685	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.05139	3.49;3.49	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	M	0.92970	3.365	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.981;0.999;1.0;1.0	T	0.34304	-0.9834	10	0.87932	D	0	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	108;108;108;108	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	N	108	ENSP00000358309:D108N;ENSP00000358303:D108N	ENSP00000358303:D108N	D	-	1	0	EPHA7	94177450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	GAT		0.403	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			T	94120729	C	T	94120729	3	4	54	1	0	0	0	0	1	0	0	0	5172	855	30	2	2734	2	EPHA7	6	94120729	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	38904678	94120729	76994338	60	2695											
VNN1	8876	broad.mit.edu	37	6	133004390	133004390	+	Silent	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr6:133004390C>T	ENST00000367928.4	-	7	1444	c.1431G>A	c.(1429-1431)ggG>ggA	p.G477G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	477					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.G477G(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CATACAACCTCCCAAACAGAG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	6											130	120	123					6																	133004390		2203	4300	6503	133046083	SO:0001819	synonymous_variant	8876			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1431G>A	6.37:g.133004390C>T			133046083	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	CCDS5159.1																																																																																				0.423	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			T	133004390	C	T	133004390	2	4	54	1	0	0	0	0	0	0	0	1	17182	842	30	2		2	VNN1	6	133004390	Silent	SNP	C	TCGA-09-2049-01D-01W-0799-08	38883661	133004390	38110677	61	2696											
ZNF680	340252	broad.mit.edu	37	7	64004785	64004785	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr7:64004785G>T	ENST00000309683.6	-	2	207	c.56C>A	c.(55-57)gCc>gAc	p.A19D	ZNF680_ENST00000476563.1_Intron|ZNF680_ENST00000447137.2_Missense_Mutation_p.A19D	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A19D(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GAATTCTATGGCCACATCCCT	0.423																																																1	Substitution - Missense(1)	ovary(1)	7											111	115	114					7																	64004785		2203	4298	6501	63642220	SO:0001583	missense	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.56C>A	7.37:g.64004785G>T	ENSP00000309330:p.Ala19Asp		63642220	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	N	12.50	1.957986	0.34565	.	.	ENSG00000173041	ENST00000309683;ENST00000447137	T;T	0.03358	3.96;3.96	0.665	-0.353	0.12594	Krueppel-associated box (4);	.	.	.	.	T	0.21674	0.0522	H	0.95402	3.665	0.09310	N	1	D;P	0.89917	1.0;0.922	D;P	0.76071	0.987;0.657	T	0.02893	-1.1097	8	0.87932	D	0	.	.	.	.	.	19;19	Q6ZNF3;Q8NEM1	.;ZN680_HUMAN	D	19	ENSP00000309330:A19D;ENSP00000393506:A19D	ENSP00000309330:A19D	A	-	2	0	ZNF680	63642220	0.916000	0.31088	0.056000	0.19401	0.227000	0.25037	2.237000	0.43061	-0.182000	0.10602	0.484000	0.47621	GCC		0.423	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		T	64004785	G	T	64004785	3	4	54	1	0	0	0	0	1	0	0	0	18087	1203	42	3	1671	3	ZNF680	7	64004785	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08		64004785	95133878	62	2697											
ELN	2006	broad.mit.edu	37	7	73471993	73471993	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr7:73471993G>T	ENST00000252034.7	+	22	1780	c.1381G>T	c.(1381-1383)Gct>Tct	p.A461S	ELN_ENST00000380562.4_Missense_Mutation_p.A461S|ELN_ENST00000320492.7_Intron|ELN_ENST00000458204.1_Missense_Mutation_p.A451S|ELN_ENST00000357036.5_Missense_Mutation_p.A466S|ELN_ENST00000358929.4_Missense_Mutation_p.A490S|ELN_ENST00000380553.4_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000320399.6_Missense_Mutation_p.A461S|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.A461S	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.A461S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AGCAGCTGCAGCTGCTAAAGC	0.607			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	1	Substitution - Missense(1)	ovary(1)	7											35	39	38					7																	73471993		2202	4299	6501	73109929	SO:0001583	missense	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1381G>T	7.37:g.73471993G>T	ENSP00000252034:p.Ala461Ser		73109929	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	g	10.85	1.466240	0.26335	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000380562;ENST00000458204;ENST00000357036;ENST00000442462;ENST00000320399	T;T;T;T;T;T;T	0.34072	1.44;1.43;1.38;1.42;1.43;1.44;1.43	4.32	4.32	0.51571	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.35129	D	0.767775	D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996;0.996	D;D;D;D;D;D	0.75484	0.986;0.986;0.986;0.986;0.986;0.986	T	0.67654	-0.5615	8	0.46703	T	0.11	.	12.3887	0.55347	0.0:0.0:1.0:0.0	.	461;430;451;461;466;461	E7ENM0;E9PBM4;E7EN65;P15502-1;P15502-5;P15502-2	.;.;.;.;.;.	S	461;461;490;461;451;466;430;461	ENSP00000389857:A461S;ENSP00000252034:A461S;ENSP00000351807:A490S;ENSP00000369936:A461S;ENSP00000403162:A451S;ENSP00000349540:A466S;ENSP00000313565:A461S	ENSP00000252034:A461S	A	+	1	0	ELN	73109929	0.891000	0.30450	0.782000	0.31804	0.439000	0.31926	4.570000	0.60872	1.972000	0.57404	0.450000	0.29827	GCT		0.607	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		T	73471993	G	T	73471993	3	4	54	1	0	0	0	0	1	0	0	0	5071	971	34	3	1482	3	ELN	7	73471993	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	9467208	73471993	85666670	63	2698											
CLCN1	1180	broad.mit.edu	37	7	143018909	143018909	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr7:143018909G>T	ENST00000343257.2	+	5	751	c.664G>T	c.(664-666)Ggc>Tgc	p.G222C	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	222					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.G222C(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCTGACTGCGGGCCTGGGCAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	7											55	47	50					7																	143018909		2203	4300	6503	142729031	SO:0001583	missense	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.664G>T	7.37:g.143018909G>T	ENSP00000339867:p.Gly222Cys		142729031	A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.060694	0.76074	.	.	ENSG00000188037	ENST00000343257	D	0.94232	-3.38	5.02	5.02	0.67125	Chloride channel, core (2);	0.109676	0.64402	D	0.000008	D	0.95519	0.8544	L	0.48642	1.525	0.46586	D	0.999116	D	0.89917	1.0	D	0.85130	0.997	D	0.96154	0.9110	10	0.87932	D	0	.	18.4127	0.90558	0.0:0.0:1.0:0.0	.	222	P35523	CLCN1_HUMAN	C	222	ENSP00000339867:G222C	ENSP00000339867:G222C	G	+	1	0	CLCN1	142729031	1.000000	0.71417	0.867000	0.34043	0.849000	0.48306	6.677000	0.74503	2.357000	0.79964	0.555000	0.69702	GGC		0.587	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		T	143018909	G	T	143018909	3	4	54	1	0	0	0	0	1	0	0	0	3462	1232	43	3	682	3	CLCN1	7	143018909	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	69546916	143018909	16119754	64	2699											
HMBOX1	79618	broad.mit.edu	37	8	28876381	28876381	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr8:28876381C>G	ENST00000397358.3	+	7	1506	c.802C>G	c.(802-804)Cga>Gga	p.R268G	HMBOX1_ENST00000287701.10_Missense_Mutation_p.R268G|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R268G|HMBOX1_ENST00000519047.1_Missense_Mutation_p.R268G|HMBOX1_ENST00000524238.1_Missense_Mutation_p.R268G|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R268G|HMBOX1_ENST00000444075.1_Missense_Mutation_p.R268G|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R268G|HMBOX1_ENST00000403668.2_Missense_Mutation_p.R268G	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	268					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R268G(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CCGACTGCGACGAGGGAGTCG	0.498																																																1	Substitution - Missense(1)	ovary(1)	8											133	118	123					8																	28876381		2203	4300	6503	28932300	SO:0001583	missense	79618			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"Homeoboxes / HNF class"	26137	protein-coding gene	gene with protein product	"homeobox telomere-binding protein 1"					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.802C>G	8.37:g.28876381C>G	ENSP00000380516:p.Arg268Gly		28932300	A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329592	0.81690	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.99888	-4.1;-4.1;-7.54;-4.1;-4.1;-4.1	5.79	4.89	0.63831	Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.90369	3.11	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.994;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.999;0.998;0.982;0.999	D	0.96136	0.9096	10	0.87932	D	0	-6.5205	13.7255	0.62756	0.2804:0.7196:0.0:0.0	.	268;268;268;268;268;268	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	G	268	ENSP00000287701:R268G;ENSP00000401769:R268G;ENSP00000384261:R268G;ENSP00000430059:R268G;ENSP00000380516:R268G;ENSP00000430110:R268G	ENSP00000287701:R268G	R	+	1	2	HMBOX1	28932300	0.963000	0.33076	1.000000	0.80357	0.952000	0.60782	2.215000	0.42862	1.392000	0.46585	0.655000	0.94253	CGA		0.498	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		G	28876381	C	G	28876381	3	3	54	1	0	0	0	0	1	0	0	0	7218	528	19	3	820	3	HMBOX1	8	28876381	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08		28876381	117487641	65	2700											
MYST3	7994	broad.mit.edu	37	8	41805418	41805418	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr8:41805418C>T	ENST00000396930.3	-	12	2296	c.1753G>A	c.(1753-1755)Gtg>Atg	p.V585M	KAT6A_ENST00000485568.1_Missense_Mutation_p.V585M|KAT6A_ENST00000406337.1_Missense_Mutation_p.V585M|KAT6A_ENST00000265713.2_Missense_Mutation_p.V585M	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	585	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V585M(1)									ATGGTACTCACATTCCCATCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	8											78	75	76					8																	41805418		2203	4300	6503	41924575	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1753G>A	8.37:g.41805418C>T	ENSP00000380136:p.Val585Met		41924575	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	9.446	1.089246	0.20390	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84223	0.2;0.2;0.2;-1.82	5.61	5.61	0.85477	.	0.086699	0.48286	D	0.000190	D	0.90242	0.6949	L	0.56769	1.78	0.80722	D	1	D;D	0.61697	0.975;0.99	P;P	0.62560	0.759;0.904	D	0.88322	0.2963	10	0.34782	T	0.22	-20.4715	19.6419	0.95762	0.0:1.0:0.0:0.0	.	585;585	A5PLL3;Q92794	.;KAT6A_HUMAN	M	585;585;585;165;585	ENSP00000265713:V585M;ENSP00000385888:V585M;ENSP00000380136:V585M;ENSP00000430606:V585M	ENSP00000265713:V585M	V	-	1	0	KAT6A	41924575	1.000000	0.71417	0.999000	0.59377	0.014000	0.08584	5.757000	0.68766	2.640000	0.89533	0.655000	0.94253	GTG		0.348	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		T	41805418	C	T	41805418	3	4	54	1	0	0	0	0	1	0	0	0	10104	478	17	2	4289	2	MYST3	8	41805418	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	12929037	41805418	104558604	66	2701											
SLC20A2	6575	broad.mit.edu	37	8	42287737	42287737	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr8:42287737C>A	ENST00000342228.3	-	9	1923	c.1554G>T	c.(1552-1554)tgG>tgT	p.W518C	SLC20A2_ENST00000520179.1_Missense_Mutation_p.W518C|SLC20A2_ENST00000520262.1_Missense_Mutation_p.W518C	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	518					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.W518C(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTAAATCAGCCACAAGGCTA	0.473																																																1	Substitution - Missense(1)	ovary(1)	8											53	53	53					8																	42287737		2203	4300	6503	42406894	SO:0001583	missense	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1554G>T	8.37:g.42287737C>A	ENSP00000340465:p.Trp518Cys		42406894		Missense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259553	0.80246	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90069	-2.61;-2.61;-2.61	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	M	0.77712	2.385	0.80722	D	1	P	0.48694	0.914	B	0.28916	0.096	D	0.89744	0.3935	10	0.87932	D	0	-15.4643	17.3708	0.87377	0.0:1.0:0.0:0.0	.	518	Q08357	S20A2_HUMAN	C	518	ENSP00000340465:W518C;ENSP00000429754:W518C;ENSP00000429712:W518C	ENSP00000340465:W518C	W	-	3	0	SLC20A2	42406894	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.818000	0.86416	2.709000	0.92574	0.561000	0.74099	TGG		0.473	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			A	42287737	C	A	42287737	3	1	54	1	0	0	0	0	1	0	0	0	14442	740	26	3	416	3	SLC20A2	8	42287737	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	482319	42287737	104076285	67	2702											
PLEKHF2	79666	broad.mit.edu	37	8	96166990	96166990	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr8:96166990G>A	ENST00000315367.3	+	2	959	c.718G>A	c.(718-720)Gat>Aat	p.D240N	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.D240N	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	240					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)	p.D240N(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					TGATATGTCTGATGATGATGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	8											77	74	75					8																	96166990		2203	4300	6503	96236166	SO:0001583	missense	79666			AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.718G>A	8.37:g.96166990G>A	ENSP00000322373:p.Asp240Asn		96236166		Missense_Mutation	SNP	ENST00000315367.3	37	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	G	7.500	0.652502	0.14580	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	T;T	0.80824	-1.42;-1.42	5.81	5.81	0.92471	.	0.090894	0.64402	D	0.000001	T	0.77003	0.4067	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	P	0.57009	0.811	T	0.75093	-0.3439	10	0.20046	T	0.44	-19.809	20.0925	0.97824	0.0:0.0:1.0:0.0	.	240	Q9H8W4	PKHF2_HUMAN	N	240	ENSP00000322373:D240N;ENSP00000427792:D240N	ENSP00000322373:D240N	D	+	1	0	PLEKHF2	96236166	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	9.080000	0.94040	2.756000	0.94617	0.557000	0.71058	GAT		0.438	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613		A	96166990	G	A	96166990	3	1	54	1	0	0	0	0	1	0	0	0	12067	1290	45	2	720	2	PLEKHF2	8	96166990	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	53879253	96166990	50197032	68	2703											
DEPDC6	64798	broad.mit.edu	37	8	121061814	121061814	+	Splice_Site	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr8:121061814G>T	ENST00000286234.5	+	9	1231		c.e9-1		DEPTOR_ENST00000523492.1_Splice_Site|DEPTOR_ENST00000518057.1_Splice_Site	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein						intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						CTTTCCTTTAGGTCTGTCAGT	0.458																																																1	Unknown(1)	ovary(1)	8											174	156	162					8																	121061814		2203	4300	6503	121130995	SO:0001630	splice_region_variant	64798				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"DEP domain containing 6"	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.1102-1G>T	8.37:g.121061814G>T			121130995	B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Splice_Site	SNP	ENST00000286234.5	37	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982197	0.74474	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEPTOR	121130995	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	8.997000	0.93544	2.861000	0.98227	0.650000	0.86243	.		0.458	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783	Intron	T	121061814	G	T	121061814	5	4	54	1	0	0	0	0	0	0	1	0	4443	1014	35	3	1135	3	DEPDC6	8	121061814	Splice_Site	SNP	G	TCGA-09-2049-01D-01W-0799-08	24894824	121061814	25302208	69	2704											
KIFC2	90990	broad.mit.edu	37	8	145694904	145694904	+	Silent	SNP	A	A	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr8:145694904A>C	ENST00000301332.2	+	12	1631	c.1254A>C	c.(1252-1254)ccA>ccC	p.P418P	KIFC2_ENST00000301331.5_Silent_p.P166P	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	418	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P418P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTGAGGCCAGGGACATCTT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	8											68	59	62					8																	145694904		2203	4300	6503	145665712	SO:0001819	synonymous_variant	90990			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1254A>C	8.37:g.145694904A>C			145665712	E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	CCDS6427.1																																																																																				0.597	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		C	145694904	A	C	145694904	2	2	54	1	0	0	0	0	0	0	0	1	8313	175	7	5		5	KIFC2	8	145694904	Silent	SNP	A	TCGA-09-2049-01D-01W-0799-08	24633090	145694904	669118	70	2705											
DFNB31	25861	broad.mit.edu	37	9	117266603	117266603	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr9:117266603G>C	ENST00000362057.3	-	1	647	c.479C>G	c.(478-480)tCg>tGg	p.S160W	DFNB31_ENST00000480518.1_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.S160W|DFNB31_ENST00000265134.6_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	160	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.S160W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCGTGCTCCGAGCCCCCACG	0.682																																																1	Substitution - Missense(1)	ovary(1)	9											63	66	65					9																	117266603		2203	4300	6503	116306424	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.479C>G	9.37:g.117266603G>C	ENSP00000354623:p.Ser160Trp		116306424	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629019	0.67015	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.30714	1.52;1.52	5.79	5.79	0.91817	PDZ/DHR/GLGF (4);	0.267486	0.38605	N	0.001627	T	0.52996	0.1769	M	0.72118	2.19	0.80722	D	1	P;D;P	0.69078	0.473;0.997;0.5	B;D;B	0.69654	0.067;0.965;0.367	T	0.53676	-0.8405	10	0.66056	D	0.02	-9.4147	13.26	0.60101	0.0721:0.0:0.9279:0.0	.	160;160;160	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	W	160	ENSP00000354623:S160W;ENSP00000363170:S160W	ENSP00000354623:S160W	S	-	2	0	DFNB31	116306424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.733000	0.93635	0.655000	0.94253	TCG		0.682	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		C	117266603	G	C	117266603	3	2	54	1	0	0	0	0	1	0	0	0	4455	1059	37	3	2292	3	DFNB31	9	117266603	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08		117266603	23946828	71	2706											
RXRA	6256	broad.mit.edu	37	9	137326002	137326002	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr9:137326002A>G	ENST00000481739.1	+	9	1242	c.1190A>G	c.(1189-1191)tAt>tGt	p.Y397C	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.Y300C	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	397	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.Y397C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GAGAAGGTCTATGCGTCCTTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	9											76	74	74					9																	137326002		2203	4300	6503	136465823	SO:0001583	missense	6256			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1190A>G	9.37:g.137326002A>G	ENSP00000419692:p.Tyr397Cys		136465823	B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365328	0.61513	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96619	-4.07;-4.07	4.3	4.3	0.51218	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.067294	0.64402	D	0.000009	D	0.98251	0.9421	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99289	1.0898	10	0.87932	D	0	.	13.7357	0.62815	1.0:0.0:0.0:0.0	.	397	P19793	RXRA_HUMAN	C	397;300	ENSP00000419692:Y397C;ENSP00000442123:Y300C	ENSP00000419692:Y397C	Y	+	2	0	RXRA	136465823	1.000000	0.71417	0.200000	0.23457	0.575000	0.36095	8.878000	0.92393	1.708000	0.51301	0.402000	0.26972	TAT		0.637	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		G	137326002	A	G	137326002	3	3	54	1	0	0	0	0	1	0	0	0	13766	449	16	4	1224	4	RXRA	9	137326002	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	20059399	137326002	3887429	72	2707											
CUBN	8029	broad.mit.edu	37	10	16955948	16955948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	-	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr10:16955948delA	ENST00000377833.4	-	48	7460	c.7395delT	c.(7393-7395)tctfs	p.S2465fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2465	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.N2467fs*26(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTAGTTGGGAGAAGTAAATG	0.488																																																1	Deletion - Frameshift(1)	ovary(1)	10											89	87	88					10																	16955948		2203	4300	6503	16995954	SO:0001589	frameshift_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7395delT	10.37:g.16955948delA	ENSP00000367064:p.Ser2465fs		16995954	B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	CCDS7113.1																																																																																				0.488	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		-	16955948	A	-	16955948	7	5	54	1	0	1	0	1	0	0	0	0	4051	291	11	0	3556	0	CUBN	10	16955948	Frame_Shift_Del	DEL	A	TCGA-09-2049-01D-01W-0799-08		16955948	118578799	73	2708											
HNRNPH3	3189	broad.mit.edu	37	10	70101810	70101810	+	Nonstop_Mutation	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr10:70101810G>C	ENST00000265866.7	+	10	1205	c.1040G>C	c.(1039-1041)tGa>tCa	p.*347S	HNRNPH3_ENST00000441000.2_Nonstop_Mutation_p.*239S|HNRNPH3_ENST00000354695.5_Nonstop_Mutation_p.*332S|HNRNPH3_ENST00000469172.1_3'UTR	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	0					epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.*347S(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GGGATGTACTGAAAGCAAAAA	0.403																																																2	Nonstop extension(2)	ovary(1)|prostate(1)	10											120	101	107					10																	70101810		2203	4300	6503	69771816	SO:0001578	stop_lost	3189				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.1040G>C	10.37:g.70101810G>C	ENSP00000265866:p.*347Serext*32		69771816	A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Nonstop_Mutation	SNP	ENST00000265866.7	37	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	8.476	0.858729	0.17178	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	.	.	.	2.45	0.542	0.17174	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1682	0.20402	0.2872:0.0:0.7128:0.0	.	.	.	.	S	347;239;332	.	.	X	+	2	2	HNRNPH3	69771816	0.999000	0.42202	0.467000	0.27180	0.971000	0.66376	0.268000	0.18571	0.136000	0.18733	0.563000	0.77884	TGA		0.403	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			C	70101810	G	C	70101810	4	2	54	1	0	0	0	0	0	0	0	0	7268	1285	45	3	1074	3	HNRNPH3	10	70101810	Nonstop_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	53145862	70101810	65432937	74	2709											
VDAC2	7417	broad.mit.edu	37	10	76973800	76973800	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr10:76973800A>G	ENST00000332211.6	+	4	335	c.122A>G	c.(121-123)gAt>gGt	p.D41G	VDAC2_ENST00000313132.4_Missense_Mutation_p.D56G|VDAC2_ENST00000543351.1_Missense_Mutation_p.D41G|VDAC2_ENST00000535553.1_5'UTR|VDAC2_ENST00000472137.1_3'UTR	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	41					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)	p.D41G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GTGAAACTGGATGTGAAAACA	0.328																																																1	Substitution - Missense(1)	ovary(1)	10											282	258	266					10																	76973800		2203	4300	6503	76643806	SO:0001583	missense	7417			BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"Voltage-dependent anion channels"	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.122A>G	10.37:g.76973800A>G	ENSP00000361686:p.Asp41Gly		76643806	Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	37	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323788	0.81580	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000313132;ENST00000447677;ENST00000413289	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	H	0.94847	3.59	0.80722	D	1	B;B	0.29936	0.055;0.262	B;P	0.51945	0.357;0.685	T	0.79629	-0.1724	10	0.62326	D	0.03	-2.6197	14.1183	0.65169	1.0:0.0:0.0:0.0	.	56;41	P45880-1;P45880	.;VDAC2_HUMAN	G	41;41;41;41;56;41;56	ENSP00000298468:D41G;ENSP00000443092:D41G;ENSP00000344876:D41G;ENSP00000361686:D41G;ENSP00000361635:D56G;ENSP00000401492:D41G;ENSP00000389551:D56G	ENSP00000298468:D41G	D	+	2	0	VDAC2	76643806	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.259000	0.95561	1.792000	0.52537	0.448000	0.29417	GAT		0.328	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1	NM_003375		G	76973800	A	G	76973800	3	3	54	1	0	0	0	0	1	0	0	0	17147	333	12	4	212	4	VDAC2	10	76973800	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	6871990	76973800	58560947	75	2710											
ATRNL1	26033	broad.mit.edu	37	10	117040934	117040934	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr10:117040934A>T	ENST00000355044.3	+	14	2296	c.2170A>T	c.(2170-2172)Agc>Tgc	p.S724C		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	724	PSI 3.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S724C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGCTGTAAAAGCTGTTCACT	0.353																																																1	Substitution - Missense(1)	ovary(1)	10											91	88	89					10																	117040934		2203	4300	6503	117030924	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2170A>T	10.37:g.117040934A>T	ENSP00000347152:p.Ser724Cys		117030924	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566696	0.86439	.	.	ENSG00000107518	ENST00000355044	T	0.18960	2.18	5.64	5.64	0.86602	C-type lectin-like (1);	0.072732	0.85682	D	0.000000	T	0.44726	0.1307	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.40175	-0.9577	10	0.87932	D	0	-21.1961	15.8713	0.79122	1.0:0.0:0.0:0.0	.	724	Q5VV63	ATRN1_HUMAN	C	724	ENSP00000347152:S724C	ENSP00000347152:S724C	S	+	1	0	ATRNL1	117030924	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.712000	0.74681	2.144000	0.66660	0.533000	0.62120	AGC		0.353	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		T	117040934	A	T	117040934	3	4	54	1	0	0	0	0	1	0	0	0	1207	72	3	5	2224	5	ATRNL1	10	117040934	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	40067134	117040934	18493813	76	2711											
OR1S2	219958	broad.mit.edu	37	11	57971087	57971087	+	Silent	SNP	G	G	A	rs149451220	byFrequency	TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr11:57971087G>A	ENST00000302592.6	-	1	566	c.567C>T	c.(565-567)caC>caT	p.H189H		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H189H(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CACAGAAGAAGTGTGGGAGAG	0.433																																																1	Substitution - coding silent(1)	ovary(1)	11						G		1,4401	2.1+/-5.4	0,1,2200	242	224	230		567	4.8	1	11	dbSNP_134	230	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR1S2	NM_001004459.1		0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154		189/326	57971087	2,12992	2201	4296	6497	57727663	SO:0001819	synonymous_variant	219958			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.567C>T	11.37:g.57971087G>A			57727663	Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	CCDS31545.1																																																																																				0.433	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		A	57971087	G	A	57971087	2	1	54	1	0	0	0	0	0	0	0	1	10973	1020	36	2		2	OR1S2	11	57971087	Silent	SNP	G	TCGA-09-2049-01D-01W-0799-08		57971087	77035429	77	2712											
CD5	921	broad.mit.edu	37	11	60889194	60889194	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr11:60889194C>A	ENST00000347785.3	+	6	1083	c.917C>A	c.(916-918)gCc>gAc	p.A306D		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	306	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.A306D(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGCTCTTCAGCCAGGAGCTCG	0.667																																																1	Substitution - Missense(1)	ovary(1)	11											55	48	51					11																	60889194		2203	4299	6502	60645770	SO:0001583	missense	921			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.917C>A	11.37:g.60889194C>A	ENSP00000342681:p.Ala306Asp		60645770	A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	0.515	-0.864718	0.02590	.	.	ENSG00000110448	ENST00000347785	T	0.01185	5.21	5.42	-1.25	0.09405	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.222010	0.05725	N	0.598405	T	0.00998	0.0033	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.49588	-0.8924	10	0.10111	T	0.7	-8.1449	2.1449	0.03784	0.1232:0.422:0.2401:0.2147	.	306	P06127	CD5_HUMAN	D	306	ENSP00000342681:A306D	ENSP00000342681:A306D	A	+	2	0	CD5	60645770	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.277000	0.08502	0.080000	0.16959	-0.997000	0.02515	GCC		0.667	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		A	60889194	C	A	60889194	3	1	54	1	0	0	0	0	1	0	0	0	3021	739	26	3	939	3	CD5	11	60889194	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	2918107	60889194	74117322	78	2713											
INTS5	80789	broad.mit.edu	37	11	62416832	62416832	+	Silent	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr11:62416832G>A	ENST00000330574.2	-	2	772	c.720C>T	c.(718-720)tcC>tcT	p.S240S	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	240					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.S240S(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAGAACCCGGGAAATGATGG	0.542																																																1	Substitution - coding silent(1)	ovary(1)	11											113	99	104					11																	62416832		2202	4299	6501	62173408	SO:0001819	synonymous_variant	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.720C>T	11.37:g.62416832G>A			62173408	Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	CCDS8027.1																																																																																				0.542	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		A	62416832	G	A	62416832	2	1	54	1	0	0	0	0	0	0	0	1	7781	1219	43	2		2	INTS5	11	62416832	Silent	SNP	G	TCGA-09-2049-01D-01W-0799-08	1527638	62416832	72589684	79	2714											
MAP4K2	5871	broad.mit.edu	37	11	64557096	64557096	+	Splice_Site	SNP	T	T	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr11:64557096T>C	ENST00000294066.2	-	32	2467	c.2376A>G	c.(2374-2376)agA>agG	p.R792R	MAP4K2_ENST00000377350.3_Splice_Site_p.R784R	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	792	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R792R(1)		cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGATGATGTCTCTGGAGGAGA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	11											83	74	77					11																	64557096		2201	4297	6498	64313672	SO:0001630	splice_region_variant	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2376-1A>G	11.37:g.64557096T>C			64313672	Q86VU3	Silent	SNP	ENST00000294066.2	37	CCDS8082.1																																																																																				0.612	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579	Silent	C	64557096	T	C	64557096	5	2	54	1	0	0	0	0	0	0	1	0	9260	1565	54	4	90	4	MAP4K2	11	64557096	Splice_Site	SNP	T	TCGA-09-2049-01D-01W-0799-08	2140264	64557096	70449420	80	2715											
MTL5	9633	broad.mit.edu	37	11	68478348	68478348	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr11:68478348T>A	ENST00000255087.5	-	9	1511	c.1328A>T	c.(1327-1329)cAc>cTc	p.H443L		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	443					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.H443L(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTACCTATCGTGACTGAATCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	11											126	111	116					11																	68478348		2200	4294	6494	68234924	SO:0001583	missense	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.1328A>T	11.37:g.68478348T>A	ENSP00000255087:p.His443Leu		68234924	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	T	7.832	0.720126	0.15372	.	.	ENSG00000132749	ENST00000255087	T	0.29397	1.57	5.02	2.5	0.30297	.	0.500624	0.19987	N	0.101651	T	0.11707	0.0285	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31081	-0.9956	10	0.10902	T	0.67	-10.3214	9.6774	0.40050	0.0:0.0:0.3364:0.6636	.	443	Q9Y4I5	MTL5_HUMAN	L	443	ENSP00000255087:H443L	ENSP00000255087:H443L	H	-	2	0	MTL5	68234924	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.288000	0.18939	0.751000	0.32900	-0.501000	0.04562	CAC		0.418	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		A	68478348	T	A	68478348	3	1	54	1	0	0	0	0	1	0	0	0	9936	1696	59	5	206	5	MTL5	11	68478348	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	3921252	68478348	66528168	81	2716											
FAT3	120114	broad.mit.edu	37	11	92534512	92534512	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr11:92534512C>G	ENST00000298047.6	+	9	8350	c.8333C>G	c.(8332-8334)gCt>gGt	p.A2778G	FAT3_ENST00000525166.1_Missense_Mutation_p.A2628G|FAT3_ENST00000409404.2_Missense_Mutation_p.A2778G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2778	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2778G(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCAGCCCAGCTTTCCACTTT	0.438										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											66	67	67					11																	92534512		1903	4123	6026	92174160	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8333C>G	11.37:g.92534512C>G	ENSP00000298047:p.Ala2778Gly		92174160	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	11.36	1.616769	0.28801	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61158	0.13;0.13;0.13	5.98	5.07	0.68467	.	.	.	.	.	T	0.42040	0.1185	N	0.21583	0.68	0.36241	D	0.853259	B	0.09022	0.002	B	0.11329	0.006	T	0.43925	-0.9361	9	0.25106	T	0.35	.	11.0611	0.47948	0.0:0.8596:0.0:0.1404	.	2778	Q8TDW7-3	.	G	2778;2778;2628	ENSP00000298047:A2778G;ENSP00000387040:A2778G;ENSP00000432586:A2628G	ENSP00000298047:A2778G	A	+	2	0	FAT3	92174160	0.024000	0.19004	0.611000	0.29010	0.920000	0.55202	0.855000	0.27805	1.541000	0.49316	0.591000	0.81541	GCT		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92534512	C	G	92534512	3	3	54	1	0	0	0	0	1	0	0	0	5691	797	28	3	8367	3	FAT3	11	92534512	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	24056164	92534512	42472004	82	2717											
KDM5A	5927	broad.mit.edu	37	12	416865	416865	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr12:416865G>A	ENST00000399788.2	-	23	4047	c.3685C>T	c.(3685-3687)Ctc>Ttc	p.L1229F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L1229F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1229					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L1229F(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GATACCAGGAGTGACAGAATA	0.502			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	1	Substitution - Missense(1)	ovary(1)	12											75	75	75					12																	416865		1907	4108	6015	287126	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3685C>T	12.37:g.416865G>A	ENSP00000382688:p.Leu1229Phe		287126	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277862	0.80692	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	T;T	0.01197	5.19;5.19	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.01256	-1.1404	10	0.87932	D	0	-11.0479	14.2971	0.66321	0.0712:0.0:0.9288:0.0	.	1229;1229	P29375;P29375-2	KDM5A_HUMAN;.	F	1229	ENSP00000382688:L1229F;ENSP00000372265:L1229F	ENSP00000372265:L1229F	L	-	1	0	KDM5A	287126	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.510000	0.60455	2.830000	0.97506	0.585000	0.79938	CTC		0.502	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		A	416865	G	A	416865	3	1	54	1	0	0	0	0	1	0	0	0	8133	1029	36	2	1411	2	KDM5A	12	416865	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08		416865	133435030	83	2718											
C12orf35	55196	broad.mit.edu	37	12	32135646	32135646	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr12:32135646C>G	ENST00000312561.4	+	4	2171	c.1757C>G	c.(1756-1758)gCt>gGt	p.A586G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	586								p.A586G(1)									CTACTTCTCGCTTTGCTTTCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	12											38	39	38					12																	32135646		2203	4299	6502	32026913	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1757C>G	12.37:g.32135646C>G	ENSP00000310338:p.Ala586Gly		32026913	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	9.530	1.110513	0.20714	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.06142	3.97;3.34	4.46	-6.9	0.01655	.	5.264380	0.00496	N	0.000142	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39683	-0.9602	9	.	.	.	.	2.2689	0.04086	0.5166:0.1932:0.1531:0.1371	.	586	Q9HCM1	CL035_HUMAN	G	586	ENSP00000310338:A586G;ENSP00000370442:A586G	.	A	+	2	0	C12orf35	32026913	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.208000	0.09371	-0.972000	0.03559	-1.208000	0.01637	GCT		0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		G	32135646	C	G	32135646	3	3	54	1	0	0	0	0	1	0	0	0	1682	797	28	3	1759	3	C12orf35	12	32135646	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	31718781	32135646	101716249	84	2719											
DNAJC22	79962	broad.mit.edu	37	12	49743189	49743189	+	Silent	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr12:49743189C>T	ENST00000549441.2	+	3	1738	c.534C>T	c.(532-534)ctC>ctT	p.L178L	DNAJC22_ENST00000395069.3_Silent_p.L178L			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	178						integral component of membrane (GO:0016021)		p.L178L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						CAGAGCCGCTCAGTGTGCGGC	0.587																																																2	Substitution - coding silent(2)	ovary(2)	12											68	67	67					12																	49743189		2203	4300	6503	48029456	SO:0001819	synonymous_variant	79962			AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.534C>T	12.37:g.49743189C>T			48029456	B3KP54	Silent	SNP	ENST00000549441.2	37	CCDS8785.1																																																																																				0.587	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		T	49743189	C	T	49743189	2	4	54	1	0	0	0	0	0	0	0	1	4641	813	29	2		2	DNAJC22	12	49743189	Silent	SNP	C	TCGA-09-2049-01D-01W-0799-08	17607543	49743189	84108706	85	2720											
AQP2	359	broad.mit.edu	37	12	50348438	50348438	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr12:50348438A>T	ENST00000199280.3	+	3	636	c.551A>T	c.(550-552)aAt>aTt	p.N184I	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	184					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.N184I(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						TGCTCTATGAATCCTGCCCGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	12											150	128	136					12																	50348438		2203	4300	6503	48634705	SO:0001583	missense	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.551A>T	12.37:g.50348438A>T	ENSP00000199280:p.Asn184Ile		48634705	Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	a	26.5	4.745913	0.89663	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.99791	-6.76;-1.71	5.3	5.3	0.74995	Aquaporin-like (2);	0.000000	0.64402	D	0.000001	D	0.99902	0.9953	H	0.99900	4.915	0.53005	D	0.999963	D	0.89917	1.0	D	0.91635	0.999	D	0.96062	0.9039	10	0.87932	D	0	-12.1494	13.5008	0.61454	1.0:0.0:0.0:0.0	.	184	P41181	AQP2_HUMAN	I	184;226	ENSP00000199280:N184I;ENSP00000450022:N226I	ENSP00000199280:N184I	N	+	2	0	AQP2	48634705	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.916000	0.92745	2.143000	0.66587	0.454000	0.30748	AAT		0.567	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		T	50348438	A	T	50348438	3	4	54	1	0	0	0	0	1	0	0	0	826	101	4	5	561	5	AQP2	12	50348438	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	605249	50348438	83503457	86	2721											
FRY	10129	broad.mit.edu	37	13	32811670	32811670	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr13:32811670G>T	ENST00000380250.3	+	44	6461	c.5965G>T	c.(5965-5967)Ggt>Tgt	p.G1989C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1989						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G1989C(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGAAGTTTGGTGTCATCGA	0.547																																																1	Substitution - Missense(1)	ovary(1)	13											77	83	81					13																	32811670		2034	4202	6236	31709670	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5965G>T	13.37:g.32811670G>T	ENSP00000369600:p.Gly1989Cys		31709670	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649491	0.67358	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23950	1.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.03453	-1.1035	10	0.27785	T	0.31	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1989	Q5TBA9	FRY_HUMAN	C	1989;826	ENSP00000369600:G1989C	ENSP00000369600:G1989C	G	+	1	0	FRY	31709670	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	7.632000	0.83247	2.941000	0.99782	0.655000	0.94253	GGT		0.547	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32811670	G	T	32811670	3	4	54	1	0	0	0	0	1	0	0	0	6063	1348	47	3	6139	3	FRY	13	32811670	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08		32811670	82358208	87	2722											
PCDH9	5101	broad.mit.edu	37	13	67477733	67477733	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr13:67477733T>C	ENST00000377865.2	-	2	3175	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S	PCDH9-AS2_ENST00000419371.2_RNA|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000544246.1_Missense_Mutation_p.N1014S|PCDH9_ENST00000456367.1_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	1014					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N1014S(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCTGTGTGAGTTACACTGAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	13											103	94	97					13																	67477733		2203	4300	6503	66375734	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3041A>G	13.37:g.67477733T>C	ENSP00000367096:p.Asn1014Ser		66375734	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	8.469	0.857117	0.17106	.	.	ENSG00000184226	ENST00000544246;ENST00000377865	T;T	0.50548	0.74;0.74	5.5	5.5	0.81552	.	0.359865	0.32273	N	0.006333	T	0.24928	0.0605	N	0.08118	0	0.80722	D	1	B;B	0.24768	0.0;0.111	B;B	0.19666	0.0;0.026	T	0.13495	-1.0507	10	0.09338	T	0.73	.	12.0013	0.53232	0.0:0.0:0.0:1.0	.	1014;1014	B7ZM79;Q9HC56	.;PCDH9_HUMAN	S	1014	ENSP00000442186:N1014S;ENSP00000367096:N1014S	ENSP00000367096:N1014S	N	-	2	0	PCDH9	66375734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.909000	0.48758	2.087000	0.62958	0.533000	0.62120	AAC		0.408	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		C	67477733	T	C	67477733	3	2	54	1	0	0	0	0	1	0	0	0	11518	1725	60	4	684	4	PCDH9	13	67477733	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	34666063	67477733	47692145	88	2723											
RNASE7	84659	broad.mit.edu	37	14	21511530	21511530	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr14:21511530A>C	ENST00000298690.4	+	2	636	c.379A>C	c.(379-381)Aac>Cac	p.N127H	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	127					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)	p.N127H(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAAGCGACAGAACAAGTCTTA	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											137	133	134					14																	21511530		2202	4300	6502	20581370	SO:0001583	missense	84659			AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"Ribonucleases, RNase A"	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.379A>C	14.37:g.21511530A>C	ENSP00000298690:p.Asn127His		20581370	P80927|P83685|Q546N3	Missense_Mutation	SNP	ENST00000298690.4	37	CCDS41914.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319377	0.23994	.	.	ENSG00000165799	ENST00000298690	T	0.73363	-0.74	5.19	-2.09	0.07232	Ribonuclease A, domain (4);	1.687450	0.03585	N	0.230783	T	0.68100	0.2964	M	0.65975	2.015	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.36359	-0.9751	10	0.18276	T	0.48	3.2437	5.3746	0.16158	0.3987:0.1575:0.4437:0.0	.	127	Q9H1E1	RNAS7_HUMAN	H	127	ENSP00000298690:N127H	ENSP00000298690:N127H	N	+	1	0	RNASE7	20581370	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-0.518000	0.06267	-0.212000	0.10109	0.533000	0.62120	AAC		0.522	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572		C	21511530	A	C	21511530	3	2	54	1	0	0	0	0	1	0	0	0	13411	246	9	5	381	5	RNASE7	14	21511530	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08		21511530	85838010	89	2724											
CTSG	1511	broad.mit.edu	37	14	25043625	25043625	+	Silent	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr14:25043625C>T	ENST00000216336.2	-	4	456	c.420G>A	c.(418-420)acG>acA	p.T140T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	140	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.T140T(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CAGTGCACAGCGTCCCGGGTC	0.612																																																1	Substitution - coding silent(1)	ovary(1)	14											109	102	104					14																	25043625		2203	4300	6503	24113465	SO:0001819	synonymous_variant	1511			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.420G>A	14.37:g.25043625C>T			24113465	Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	CCDS9631.1																																																																																				0.612	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		T	25043625	C	T	25043625	2	4	54	1	0	0	0	0	0	0	0	1	4035	755	27	1		1	CTSG	14	25043625	Silent	SNP	C	TCGA-09-2049-01D-01W-0799-08	3532095	25043625	82305915	90	2725											
ZFYVE26	23503	broad.mit.edu	37	14	68264945	68264945	+	Silent	SNP	A	A	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr14:68264945A>G	ENST00000347230.4	-	11	2172	c.2034T>C	c.(2032-2034)ttT>ttC	p.F678F	ZFYVE26_ENST00000555452.1_Silent_p.F678F	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	678					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.F678F(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCAGCCAGAAATCCACTGA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	14											77	83	81					14																	68264945		2203	4300	6503	67334698	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2034T>C	14.37:g.68264945A>G			67334698	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																				0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		G	68264945	A	G	68264945	2	3	54	1	0	0	0	0	0	0	0	1	17668	243	9	4		4	ZFYVE26	14	68264945	Silent	SNP	A	TCGA-09-2049-01D-01W-0799-08	43221320	68264945	39084595	91	2726											
FAM161B	145483	broad.mit.edu	37	14	74411263	74411263	+	Missense_Mutation	SNP	T	T	C	rs560808582		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr14:74411263T>C	ENST00000534936.1	-	3	805	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	FAM161B_ENST00000286544.3_Missense_Mutation_p.M297V			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	234								p.M234V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTGCGCTCCATGATCTCTTGG	0.617													T|||	1	0.000199681	0	0.0014	5008	,	,		20032	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	14											50	51	50					14																	74411263		2203	4300	6503	73481016	SO:0001583	missense	145483			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.700A>G	14.37:g.74411263T>C	ENSP00000445326:p.Met234Val		73481016	B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37		.	.	.	.	.	.	.	.	.	.	T	6.279	0.419675	0.11928	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.23552	1.9;1.9	5.26	0.0817	0.14425	.	0.418350	0.24859	N	0.035038	T	0.10895	0.0266	N	0.12887	0.27	0.37220	D	0.905229	B	0.12013	0.005	B	0.10450	0.005	T	0.32107	-0.9919	10	0.08837	T	0.75	-1.2262	9.2946	0.37808	0.0:0.3898:0.0:0.6102	.	234	Q96MY7	F161B_HUMAN	V	297;234	ENSP00000286544:M297V;ENSP00000445326:M234V	ENSP00000286544:M297V	M	-	1	0	FAM161B	73481016	0.774000	0.28592	0.987000	0.45799	0.982000	0.71751	0.038000	0.13862	-0.123000	0.11745	0.460000	0.39030	ATG		0.617	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		C	74411263	T	C	74411263	3	2	54	1	0	0	0	0	1	0	0	0	5473	1464	51	4	1271	4	FAM161B	14	74411263	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	6146318	74411263	32938277	92	2727											
TJP1	7082	broad.mit.edu	37	15	29993876	29993876	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr15:29993876G>C	ENST00000346128.6	-	28	5644	c.5170C>G	c.(5170-5172)Caa>Gaa	p.Q1724E	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1744E|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1644E|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1668E	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1724	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.Q1724E(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACTTGTTTTGCCAGGTTTTA	0.368																																					Melanoma(77;681 1843 6309 6570)											1	Substitution - Missense(1)	ovary(1)	15											96	91	93					15																	29993876		1836	4084	5920	27781168	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.5170C>G	15.37:g.29993876G>C	ENSP00000281537:p.Gln1724Glu		27781168	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875755	0.72180	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.08370	3.1;3.3	5.75	5.75	0.90469	ZU5 (2);	0.054276	0.85682	D	0.000000	T	0.21387	0.0515	L	0.29908	0.895	0.80722	D	1	D;P;P;P	0.53462	0.96;0.937;0.887;0.837	D;D;D;P	0.72625	0.957;0.96;0.978;0.625	T	0.00496	-1.1705	10	0.62326	D	0.03	.	19.9381	0.97149	0.0:0.0:1.0:0.0	.	1737;1644;1724;1668	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	E	1724;1668;1744;1644;1644	ENSP00000281537:Q1724E;ENSP00000382890:Q1668E	ENSP00000281537:Q1724E	Q	-	1	0	TJP1	27781168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.824000	0.99380	2.709000	0.92574	0.557000	0.71058	CAA		0.368	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		C	29993876	G	C	29993876	3	2	54	1	0	0	0	0	1	0	0	0	15929	1328	46	3	80	3	TJP1	15	29993876	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08		29993876	72537516	93	2728											
CHRNA3	1136	broad.mit.edu	37	15	78893716	78893716	+	Missense_Mutation	SNP	G	G	A	rs551101196		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr15:78893716G>A	ENST00000326828.5	-	5	1652	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	CHRNA3_ENST00000348639.3_Missense_Mutation_p.S423F	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	423					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.S423F(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	TTCAGAACTAGAGCTTCTCGT	0.473													G|||	1	0.000199681	0	0	5008	,	,		20998	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	15											160	145	150					15																	78893716		2196	4293	6489	76680771	SO:0001583	missense	1136				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1268C>T	15.37:g.78893716G>A	ENSP00000315602:p.Ser423Phe		76680771	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151957	0.38021	.	.	ENSG00000080644	ENST00000348639;ENST00000326828	D;D	0.86164	-2.08;-2.08	5.79	4.85	0.62838	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.402626	0.26307	N	0.025124	D	0.90239	0.6948	M	0.70275	2.135	0.58432	D	0.999999	P;P	0.47034	0.844;0.889	P;P	0.51135	0.616;0.66	D	0.90572	0.4523	10	0.54805	T	0.06	.	15.9715	0.80025	0.0:0.0:0.8642:0.1358	.	423;423	P32297;P32297-3	ACHA3_HUMAN;.	F	423	ENSP00000267951:S423F;ENSP00000315602:S423F	ENSP00000315602:S423F	S	-	2	0	CHRNA3	76680771	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	6.401000	0.73256	1.381000	0.46364	0.591000	0.81541	TCT		0.473	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			A	78893716	G	A	78893716	3	1	54	1	0	0	0	0	1	0	0	0	3384	942	33	2	342	2	CHRNA3	15	78893716	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	48899840	78893716	23637676	94	2729											
HDDC3	374659	broad.mit.edu	37	15	91474979	91474979	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr15:91474979C>G	ENST00000394272.3	-	3	392	c.364G>C	c.(364-366)Gac>Cac	p.D122H	AC068831.3_ENST00000438890.1_RNA|HDDC3_ENST00000330334.3_Missense_Mutation_p.D122H|AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000559898.1_Missense_Mutation_p.D122H			Q8N4P3	MESH1_HUMAN	HD domain containing 3	122	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872)	p.D122H(1)		NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TACAGCTTGTCTGCCAGCTTC	0.582											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	15											84	90	88					15																	91474979		2198	4298	6496	89275983	SO:0001583	missense	374659			AK057584	CCDS10366.1, CCDS66866.1	15q26.1	2005-08-22			ENSG00000184508	ENSG00000184508			30522	protein-coding gene	gene with protein product						12477932	Standard	NM_001286451		Approved	MGC45386	uc002bqe.4	Q8N4P3	OTTHUMG00000141260	ENST00000394272.3:c.364G>C	15.37:g.91474979C>G	ENSP00000377814:p.Asp122His	1282	89275983		Missense_Mutation	SNP	ENST00000394272.3	37		.	.	.	.	.	.	.	.	.	.	C	27.1	4.797411	0.90538	.	.	ENSG00000184508	ENST00000394272;ENST00000330334	.	.	.	4.58	4.58	0.56647	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	H	0.99746	4.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95254	0.8362	9	0.87932	D	0	-21.2533	16.1919	0.81996	0.0:1.0:0.0:0.0	.	122;122	Q8N4P3;Q8N4P3-2	MESH1_HUMAN;.	H	122	.	ENSP00000330721:D122H	D	-	1	0	HDDC3	89275983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.991000	0.76232	2.388000	0.81334	0.555000	0.69702	GAC		0.582	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000280403.2	NM_198527		G	91474979	C	G	91474979	3	3	54	1	0	0	0	0	1	0	0	0	7017	913	32	3	66	3	HDDC3	15	91474979	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	12581263	91474979	11056413	95	2730											
LRRK1	79705	broad.mit.edu	37	15	101595299	101595299	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr15:101595299G>C	ENST00000388948.3	+	27	4562	c.4203G>C	c.(4201-4203)gaG>gaC	p.E1401D	LRRK1_ENST00000284395.5_Missense_Mutation_p.E1398D|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.E1413D(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGTCAAGGAGCACATCAACA	0.557																																																1	Substitution - Missense(1)	ovary(1)	15											137	134	135					15																	101595299		2062	4198	6260	99412822	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4203G>C	15.37:g.101595299G>C	ENSP00000373600:p.Glu1401Asp		99412822		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	9.111	1.006649	0.19199	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762	D;D	0.93488	-3.23;-3.23	4.78	0.636	0.17729	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.116059	0.56097	D	0.000021	T	0.81054	0.4743	N	0.04880	-0.145	0.22947	N	0.998522	B	0.19331	0.035	B	0.20184	0.028	T	0.69986	-0.4996	10	0.35671	T	0.21	.	5.2992	0.15768	0.2944:0.0:0.5727:0.1329	.	1401	Q38SD2	LRRK1_HUMAN	D	1401;1398;92	ENSP00000373600:E1401D;ENSP00000284395:E1398D	ENSP00000284395:E1398D	E	+	3	2	LRRK1	99412822	0.047000	0.20315	0.810000	0.32431	0.703000	0.40648	-0.216000	0.09266	0.169000	0.19679	0.591000	0.81541	GAG		0.557	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		C	101595299	G	C	101595299	3	2	54	1	0	0	0	0	1	0	0	0	9032	962	34	3	4305	3	LRRK1	15	101595299	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	10120320	101595299	936093	96	2731											
CREBBP	1387	broad.mit.edu	37	16	3786810	3786810	+	Silent	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr16:3786810C>G	ENST00000262367.5	-	27	5210	c.4401G>C	c.(4399-4401)gtG>gtC	p.V1467V	CREBBP_ENST00000382070.3_Silent_p.V1429V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1467	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V1467V(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGTGCCCTGTCACATACCTGC	0.517			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - coding silent(1)	ovary(1)	16											145	121	129					16																	3786810		2197	4300	6497	3726811	SO:0001819	synonymous_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4401G>C	16.37:g.3786810C>G			3726811	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																				0.517	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		G	3786810	C	G	3786810	2	3	54	1	0	0	0	0	0	0	0	1	3861	813	29	3		3	CREBBP	16	3786810	Silent	SNP	C	TCGA-09-2049-01D-01W-0799-08		3786810	86567943	97	2732											
USP7	7874	broad.mit.edu	37	16	9014258	9014258	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr16:9014258G>A	ENST00000344836.4	-	5	767	c.569C>T	c.(568-570)aCc>aTc	p.T190I	USP7_ENST00000566224.1_5'Flank|USP7_ENST00000535863.1_Missense_Mutation_p.T91I|USP7_ENST00000381886.4_Missense_Mutation_p.T174I	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	190	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T190I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GACTTCAAAGGTAACTTTGTC	0.363																																																1	Substitution - Missense(1)	ovary(1)	16											101	97	98					16																	9014258		2197	4300	6497	8921759	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.569C>T	16.37:g.9014258G>A	ENSP00000343535:p.Thr190Ile		8921759	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972383	0.53614	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.38887	1.11;1.11;1.11	5.63	5.63	0.86233	TRAF-like (1);MATH (2);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	N	0.11427	0.14	0.80722	D	1	P;P	0.43024	0.798;0.798	B;B	0.40038	0.317;0.317	T	0.08207	-1.0733	10	0.33940	T	0.23	.	19.6876	0.95986	0.0:0.0:1.0:0.0	.	190;174	Q93009;B7Z815	UBP7_HUMAN;.	I	190;198;91;91;132	ENSP00000343535:T190I;ENSP00000443646:T91I;ENSP00000439272:T132I	ENSP00000343535:T190I	T	-	2	0	USP7	8921759	1.000000	0.71417	0.573000	0.28510	0.942000	0.58702	7.914000	0.87478	2.659000	0.90383	0.655000	0.94253	ACC		0.363	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			A	9014258	G	A	9014258	3	1	54	1	0	0	0	0	1	0	0	0	17088	1261	44	2	2847	2	USP7	16	9014258	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	5227448	9014258	81340495	98	2733											
ERN2	10595	broad.mit.edu	37	16	23712287	23712287	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr16:23712287A>G	ENST00000256797.4	-	12	1664	c.1496T>C	c.(1495-1497)aTg>aCg	p.M499T	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3			endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TACCTGCCTCATCACAAAGAG	0.577																																																0			16											84	79	80					16																	23712287		2197	4300	6497	23619788	SO:0001583	missense	10595			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000256797.4:c.1496T>C	16.37:g.23712287A>G	ENSP00000256797:p.Met499Thr		23619788		Missense_Mutation	SNP	ENST00000256797.4	37	CCDS32407.1	.	.	.	.	.	.	.	.	.	.	A	4.849	0.157773	0.09236	.	.	ENSG00000134398	ENST00000256797	T	0.59083	0.29	5.25	4.16	0.48862	.	0.472269	0.23949	N	0.042964	T	0.40498	0.1119	L	0.27053	0.805	0.09310	N	1	B;B	0.18610	0.01;0.029	B;B	0.20184	0.028;0.016	T	0.21314	-1.0249	10	0.23891	T	0.37	.	7.8834	0.29635	0.9052:0.0:0.0948:0.0	.	451;451	Q76MJ5;A5YM65	ERN2_HUMAN;.	T	499	ENSP00000256797:M499T	ENSP00000256797:M499T	M	-	2	0	ERN2	23619788	0.985000	0.35326	0.508000	0.27688	0.029000	0.11900	3.786000	0.55431	0.942000	0.37525	0.459000	0.35465	ATG		0.577	ERN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434887.1			G	23712287	A	G	23712287	3	3	54	1	0	0	0	0	1	0	0	0	5238	217	8	4	1472	4	ERN2	16	23712287	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	14698029	23712287	66642466	99	2734											
CES8	283848	broad.mit.edu	37	16	67029723	67029723	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr16:67029723A>C	ENST00000326686.5	+	2	251	c.251A>C	c.(250-252)tAc>tCc	p.Y84S	CES4A_ENST00000540947.2_Missense_Mutation_p.Y84S|CES4A_ENST00000338718.4_Missense_Mutation_p.Y107S|CES4A_ENST00000541479.1_Missense_Mutation_p.Y107S|CES4A_ENST00000398354.1_Missense_Mutation_p.Y84S			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	84						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.Y84S(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GCTACCACCTACCCGCCTGGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	16											53	55	54					16																	67029723		1909	4119	6028	65587224	SO:0001583	missense	283848			AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.251A>C	16.37:g.67029723A>C	ENSP00000314145:p.Tyr84Ser		65587224	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37		.	.	.	.	.	.	.	.	.	.	A	15.62	2.887543	0.52014	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000543913;ENST00000398354;ENST00000326686;ENST00000538199	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;3.0;0.17	4.93	4.93	0.64822	Carboxylesterase, type B (1);	.	.	.	.	T	0.68577	0.3016	L	0.61387	1.9	0.09310	N	1	P;B;D	0.65815	0.902;0.22;0.995	B;P;P	0.62014	0.268;0.593;0.897	T	0.60551	-0.7241	9	0.72032	D	0.01	.	8.7948	0.34872	0.8095:0.1905:0.0:0.0	.	107;84;107	F8WEE9;Q5XG92;F5H5S4	.;EST4A_HUMAN;.	S	84;107;107;84;84;84;47	ENSP00000444052:Y84S;ENSP00000443175:Y107S;ENSP00000340714:Y107S;ENSP00000381397:Y84S;ENSP00000314145:Y84S;ENSP00000441103:Y47S	ENSP00000314145:Y84S	Y	+	2	0	CES4A	65587224	0.326000	0.24669	0.004000	0.12327	0.001000	0.01503	3.015000	0.49599	2.060000	0.61445	0.533000	0.62120	TAC		0.572	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		C	67029723	A	C	67029723	3	2	54	1	0	0	0	0	1	0	0	0	3273	391	14	5	326	5	CES8	16	67029723	Missense_Mutation	SNP	A	TCGA-09-2049-01D-01W-0799-08	43317436	67029723	23325030	100	2735											
AARS	16	broad.mit.edu	37	16	70304134	70304134	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr16:70304134C>G	ENST00000261772.8	-	6	924	c.781G>C	c.(781-783)Gac>Cac	p.D261H		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		ACAAAAAGGTCAGTGTCATAG	0.443																																																0			16											191	148	163					16																	70304134		2198	4300	6498	68861635	SO:0001583	missense	16			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.781G>C	16.37:g.70304134C>G	ENSP00000261772:p.Asp261His		68861635		Missense_Mutation	SNP	ENST00000261772.8	37	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768730	0.90020	.	.	ENSG00000090861	ENST00000261772	T	0.66638	-0.22	5.91	5.91	0.95273	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90386	0.6991	H	0.99507	4.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94059	0.7325	10	0.87932	D	0	-33.2078	17.7902	0.88550	0.0:1.0:0.0:0.0	.	269;261	E7ETK8;P49588	.;SYAC_HUMAN	H	261	ENSP00000261772:D261H	ENSP00000261772:D261H	D	-	1	0	AARS	68861635	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	GAC		0.443	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		G	70304134	C	G	70304134	3	3	54	1	0	0	0	0	1	0	0	0	19	826	29	3	2189	3	AARS	16	70304134	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	3274411	70304134	20050619	101	2736											
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	17	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	7518273	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser		7518273	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577548	C	T	7577548	3	4	54	1	0	0	0	0	1	0	0	0	16381	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08		7577548	73617662	102	2737											
MC5R	4161	broad.mit.edu	37	18	13826276	13826276	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr18:13826276C>T	ENST00000324750.3	+	1	734	c.512C>T	c.(511-513)aCg>aTg	p.T171M	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	171					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.T171M(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCTTTCTGCACGGGCTGCGGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	18											332	296	308					18																	13826276		2203	4300	6503	13816276	SO:0001583	missense	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.512C>T	18.37:g.13826276C>T	ENSP00000318077:p.Thr171Met		13816276	B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287294	0.40494	.	.	ENSG00000176136	ENST00000324750	T	0.37584	1.19	5.01	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.147287	0.64402	D	0.000011	T	0.47930	0.1472	M	0.69463	2.115	0.53005	D	0.999969	D	0.59357	0.985	P	0.55391	0.775	T	0.44952	-0.9294	10	0.66056	D	0.02	.	9.6124	0.39670	0.0:0.8255:0.0:0.1745	.	171	P33032	MC5R_HUMAN	M	171	ENSP00000318077:T171M	ENSP00000318077:T171M	T	+	2	0	MC5R	13816276	0.993000	0.37304	0.419000	0.26584	0.011000	0.07611	3.062000	0.49971	0.479000	0.27511	0.455000	0.32223	ACG		0.572	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		T	13826276	C	T	13826276	3	4	54	1	0	0	0	0	1	0	0	0	9367	536	19	1	514	1	MC5R	18	13826276	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08		13826276	64250972	103	2738											
ANKRD24	170961	broad.mit.edu	37	19	4200140	4200140	+	Silent	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr19:4200140C>A	ENST00000600132.1	+	5	591	c.315C>A	c.(313-315)ggC>ggA	p.G105G	ANKRD24_ENST00000318934.4_Silent_p.G105G|ANKRD24_ENST00000262970.5_Silent_p.G195G	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	105								p.G195G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TAGCTCATGGCAGCAATGTCA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	19											26	28	28					19																	4200140		1974	4147	6121	4151140	SO:0001819	synonymous_variant	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.315C>A	19.37:g.4200140C>A			4151140	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																				0.657	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		A	4200140	C	A	4200140	2	1	54	1	0	0	0	0	0	0	0	1	653	697	25	3		3	ANKRD24	19	4200140	Silent	SNP	C	TCGA-09-2049-01D-01W-0799-08		4200140	54928843	104	2739											
ACSBG2	81616	broad.mit.edu	37	19	6182869	6182869	+	Silent	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr19:6182869C>T	ENST00000586696.1	+	9	1290	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	ACSBG2_ENST00000252669.5_Silent_p.S338S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Silent_p.S288S|ACSBG2_ENST00000588485.1_Silent_p.S151S|ACSBG2_ENST00000591403.1_Silent_p.S338S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	338					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.S338S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCCAAGTCCATGGGCTTGA	0.453																																																1	Substitution - coding silent(1)	ovary(1)	19											95	87	90					19																	6182869		2203	4300	6503	6133869	SO:0001819	synonymous_variant	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1014C>T	19.37:g.6182869C>T			6133869	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	ENST00000586696.1	37	CCDS12159.1																																																																																				0.453	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		T	6182869	C	T	6182869	2	4	54	1	0	0	0	0	0	0	0	1	174	581	21	2		2	ACSBG2	19	6182869	Silent	SNP	C	TCGA-09-2049-01D-01W-0799-08	1982729	6182869	52946114	105	2740											
PSENEN	55851	broad.mit.edu	37	19	36237709	36237709	+	Silent	SNP	G	G	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr19:36237709G>C	ENST00000587708.2	+	4	950	c.267G>C	c.(265-267)ggG>ggC	p.G89G	AC002398.11_ENST00000591091.1_RNA|U2AF1L4_ENST00000378975.3_5'Flank|U2AF1L4_ENST00000292879.5_5'Flank|PSENEN_ENST00000222266.2_Silent_p.G89G|LIN37_ENST00000301159.9_5'Flank|U2AF1L4_ENST00000412391.2_5'Flank|PSENEN_ENST00000591949.1_3'UTR|AC002398.9_ENST00000591613.2_Intron|AC002398.11_ENST00000585365.1_RNA|U2AF1L4_ENST00000588100.1_5'Flank|AD000671.6_ENST00000589807.1_5'Flank			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	89					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G89G(1)		central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCCCTTGGGGACTACCTCT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	19											51	53	52					19																	36237709		2203	4300	6503	40929549	SO:0001819	synonymous_variant	55851			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"presenilin enhancer 2 homolog (C. elegans)"			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.267G>C	19.37:g.36237709G>C			40929549	B2R5L9	Silent	SNP	ENST00000587708.2	37	CCDS12474.1																																																																																				0.592	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459101.2	NM_172341		C	36237709	G	C	36237709	2	2	54	1	0	0	0	0	0	0	0	1	12655	1219	43	3		3	PSENEN	19	36237709	Silent	SNP	G	TCGA-09-2049-01D-01W-0799-08	30054840	36237709	22891274	106	2741											
ZNF264	9422	broad.mit.edu	37	19	57724268	57724284	+	Frame_Shift_Del	DEL	AAATATTTTGCCAGAGG	AAATATTTTGCCAGAGG	-	rs539762505|rs150134841		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	AAATATTTTGCCAGAGG	AAATATTTTGCCAGAGG	-	-	AAATATTTTGCCAGAGG	AAATATTTTGCCAGAGG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr19:57724268_57724284delAAATATTTTGCCAGAGG	ENST00000263095.6	+	4	2217_2233	c.1803_1819delAAATATTTTGCCAGAGG	c.(1801-1821)gcaaatattttgccagaggaafs	p.NILPEE602fs	ZNF264_ENST00000536056.1_Frame_Shift_Del_p.NILPEE602fs	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L604fs*5(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCACTGAGGCAAATATTTTGCCAGAGGAAACATCTTC	0.41																																																1	Deletion - Frameshift(1)	ovary(1)	19																																								62416096	SO:0001589	frameshift_variant	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1803_1819delAAATATTTTGCCAGAGG	19.37:g.57724268_57724284delAAATATTTTGCCAGAGG	ENSP00000263095:p.Asn602fs		62416080	A8K8Y9|Q9P1V0	Frame_Shift_Del	DEL	ENST00000263095.6	37	CCDS33127.1																																																																																				0.41	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			-	57724284	AAATATTTTGCCAGAGG	-	57724268	7	5	54	1	0	1	0	1	0	0	0	0	17804	117	5	0	1817	0	ZNF264	19	57724268	Frame_Shift_Del	DEL	AAATATTTTGCCAGAGG	TCGA-09-2049-01D-01W-0799-08	21486559	57724268	1404715	107	2742											
DEFB129	140881	broad.mit.edu	37	20	210247	210247	+	Silent	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr20:210247C>A	ENST00000246105.4	+	2	418	c.387C>A	c.(385-387)acC>acA	p.T129T		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	129					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.T129T(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACTCTGCCACCATCAGCACTA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	20											126	117	120					20																	210247		2203	4300	6503	158247	SO:0001819	synonymous_variant	140881			AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.387C>A	20.37:g.210247C>A			158247	Q8NES7	Silent	SNP	ENST00000246105.4	37	CCDS12992.1																																																																																				0.448	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		A	210247	C	A	210247	2	1	54	1	0	0	0	0	0	0	0	1	4415	581	21	3		3	DEFB129	20	210247	Silent	SNP	C	TCGA-09-2049-01D-01W-0799-08		210247	62815273	108	2743											
NDRG3	57446	broad.mit.edu	37	20	35282008	35282008	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr20:35282008G>T	ENST00000349004.1	-	16	1124	c.1043C>A	c.(1042-1044)aCc>aAc	p.T348N	NDRG3_ENST00000373803.2_Missense_Mutation_p.T361N|NDRG3_ENST00000540765.1_Missense_Mutation_p.T244N|NDRG3_ENST00000373773.3_Missense_Mutation_p.T253N|NDRG3_ENST00000359675.2_Missense_Mutation_p.T336N	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	348					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.T348N(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTGATTGCTGGTGACAGACCG	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											100	74	83					20																	35282008		2203	4300	6503	34715422	SO:0001583	missense	57446			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.1043C>A	20.37:g.35282008G>T	ENSP00000345292:p.Thr348Asn		34715422	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127869	0.37533	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.52295	1.9;2.02;1.93;0.67;0.7	5.65	3.66	0.41972	.	0.407476	0.30252	N	0.010055	T	0.39682	0.1087	L	0.48642	1.525	0.46028	D	0.998827	B;P;P	0.37955	0.004;0.514;0.612	B;B;B	0.38056	0.005;0.264;0.143	T	0.23583	-1.0184	10	0.51188	T	0.08	.	8.6202	0.33855	0.1944:0.0:0.8056:0.0	.	253;336;348	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	N	348;361;336;253;244	ENSP00000345292:T348N;ENSP00000362909:T361N;ENSP00000352703:T336N;ENSP00000362878:T253N;ENSP00000442813:T244N	ENSP00000345292:T348N	T	-	2	0	NDRG3	34715422	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.386000	0.44380	0.868000	0.35678	0.655000	0.94253	ACC		0.567	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			T	35282008	G	T	35282008	3	4	54	1	0	0	0	0	1	0	0	0	10253	1261	44	3	88	3	NDRG3	20	35282008	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	35071761	35282008	27743512	109	2744											
TMPRSS15	5651	broad.mit.edu	37	21	19715882	19715882	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr21:19715882T>A	ENST00000284885.3	-	12	1402	c.1369A>T	c.(1369-1371)Aat>Tat	p.N457Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	457	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.N457Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCTCCATAATTTCCTTCCTTT	0.289																																																1	Substitution - Missense(1)	ovary(1)	21											94	81	85					21																	19715882		2201	4294	6495	18637753	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1369A>T	21.37:g.19715882T>A	ENSP00000284885:p.Asn457Tyr		18637753	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876106	0.72180	.	.	ENSG00000154646	ENST00000284885	T	0.02421	4.3	5.33	5.33	0.75918	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	M	0.91663	3.23	0.51012	D	0.999905	D	0.89917	1.0	D	0.91635	0.999	T	0.02190	-1.1198	9	.	.	.	.	14.7774	0.69740	0.0:0.0:0.0:1.0	.	457	P98073	ENTK_HUMAN	Y	457	ENSP00000284885:N457Y	.	N	-	1	0	TMPRSS15	18637753	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.029000	0.70895	2.150000	0.67090	0.455000	0.32223	AAT		0.289	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19715882	T	A	19715882	3	1	54	1	0	0	0	0	1	0	0	0	16246	1841	64	5	1746	5	TMPRSS15	21	19715882	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08		19715882	28414013	110	2745											
KRTAP12-4	386684	broad.mit.edu	37	21	46074521	46074521	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr21:46074521G>A	ENST00000391618.1	-	1	55	c.11C>T	c.(10-12)aCc>aTc	p.T4I	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	4						keratin filament (GO:0045095)		p.T4I(1)		lung(4)|ovary(1)|prostate(1)	6						AGAGTGGCTGGTGTGGCACAT	0.652																																																1	Substitution - Missense(1)	ovary(1)	21											10	15	13					21																	46074521		2036	4174	6210	44898949	SO:0001583	missense	386684			AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"Keratin associated proteins"	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.11C>T	21.37:g.46074521G>A	ENSP00000375476:p.Thr4Ile		44898949	Q08AF5	Missense_Mutation	SNP	ENST00000391618.1	37	CCDS42963.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.641869	0.29157	.	.	ENSG00000212933	ENST00000391618	T	0.02121	4.44	4.93	3.98	0.46160	.	.	.	.	.	T	0.09113	0.0225	M	0.62266	1.93	0.32783	N	0.502249	D	0.71674	0.998	D	0.75020	0.985	T	0.01319	-1.1386	9	0.87932	D	0	.	10.0417	0.42162	0.0:0.0:0.7992:0.2008	.	4	P60329	KR124_HUMAN	I	4	ENSP00000375476:T4I	ENSP00000375476:T4I	T	-	2	0	KRTAP12-4	44898949	0.015000	0.18098	0.984000	0.44739	0.030000	0.12068	-0.040000	0.12104	2.434000	0.82447	0.467000	0.42956	ACC		0.652	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128036.1			A	46074521	G	A	46074521	3	1	54	1	0	0	0	0	1	0	0	0	8521	1261	44	2	331	2	KRTAP12-4	21	46074521	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	26358639	46074521	2055374	111	2746											
ZNF280A	129025	broad.mit.edu	37	22	22869652	22869652	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr22:22869652C>T	ENST00000302097.3	-	2	555	c.303G>A	c.(301-303)atG>atA	p.M101I	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M101I(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAGAAACGGGCATGATGGCTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	22											169	141	151					22																	22869652		2203	4300	6503	21199652	SO:0001583	missense	129025			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.303G>A	22.37:g.22869652C>T	ENSP00000302855:p.Met101Ile		21199652		Missense_Mutation	SNP	ENST00000302097.3	37	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293865	0.23564	.	.	ENSG00000169548	ENST00000302097	T	0.20738	2.05	3.8	-7.59	0.01308	.	.	.	.	.	T	0.09113	0.0225	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29518	-1.0009	9	0.45353	T	0.12	13.5491	0.327	0.00312	0.226:0.1867:0.2238:0.3635	.	101	P59817	Z280A_HUMAN	I	101	ENSP00000302855:M101I	ENSP00000302855:M101I	M	-	3	0	ZNF280A	21199652	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.232000	0.01205	-2.150000	0.00796	0.650000	0.86243	ATG		0.473	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		T	22869652	C	T	22869652	3	4	54	1	0	0	0	0	1	0	0	0	17814	710	25	2	1329	2	ZNF280A	22	22869652	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08		22869652	28434914	112	2747											
MYO18B	84700	broad.mit.edu	37	22	26422607	26422607	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chr22:26422607C>A	ENST00000407587.2	+	43	6839	c.6670C>A	c.(6670-6672)Cct>Act	p.P2224T	MYO18B_ENST00000536101.1_Missense_Mutation_p.P2223T|MYO18B_ENST00000335473.7_Missense_Mutation_p.P2223T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2223						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P2224T(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGATTAGAACCTGCTTCCTC	0.562																																																1	Substitution - Missense(1)	ovary(1)	22											31	34	33					22																	26422607		1925	4119	6044	24752607	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6670C>A	22.37:g.26422607C>A	ENSP00000386096:p.Pro2224Thr		24752607	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.398|4.398	0.073513|0.073513	0.08485|0.08485	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.85702	.|-2.0;-2.0;-2.02	4.5|4.5	-0.336|-0.336	0.12658|0.12658	.|.	.|0.636710	.|0.13077	.|N	.|0.415562	T|T	0.68439|0.68439	0.3001|0.3001	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.0;0.001	T|T	0.50684|0.50684	-0.8799|-0.8799	5|10	.|0.22706	.|T	.|0.39	.|.	2.5897|2.5897	0.04839|0.04839	0.1359:0.3044:0.4065:0.1532|0.1359:0.3044:0.4065:0.1532	.|.	.|1736;2225;2223;2224;2223	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	K|T	172|2223;2223;2224	.|ENSP00000441229:P2223T;ENSP00000334563:P2223T;ENSP00000386096:P2224T	.|ENSP00000334563:P2223T	N|P	+|+	3|1	2|0	MYO18B|MYO18B	24752607|24752607	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	-0.026000|-0.026000	0.12392|0.12392	0.081000|0.081000	0.16988|0.16988	-0.197000|-0.197000	0.12766|0.12766	AAC|CCT		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26422607	C	A	26422607	3	1	54	1	0	0	0	0	1	0	0	0	10066	507	18	3	6833	3	MYO18B	22	26422607	Missense_Mutation	SNP	C	TCGA-09-2049-01D-01W-0799-08	3552955	26422607	24881959	113	2748											
CXorf23	256643	broad.mit.edu	37	X	19983772	19983772	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chrX:19983772T>C	ENST00000379682.4	-	3	697	c.664A>G	c.(664-666)Aaa>Gaa	p.K222E	CXorf23_ENST00000356980.3_Missense_Mutation_p.K222E|CXorf23_ENST00000379687.3_Missense_Mutation_p.K222E			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	222						mitochondrion (GO:0005739)		p.K222E(1)		endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCCACGTCTTTAGGTCTTTTT	0.463																																																1	Substitution - Missense(1)	ovary(1)	X											167	148	154					X																	19983772		1913	4119	6032	19893693	SO:0001583	missense	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.664A>G	X.37:g.19983772T>C	ENSP00000369004:p.Lys222Glu		19893693	A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37		.	.	.	.	.	.	.	.	.	.	T	10.88	1.474975	0.26511	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.15718	2.4;2.4;2.4	5.78	0.461	0.16689	.	.	.	.	.	T	0.09158	0.0226	L	0.27053	0.805	0.19775	N	0.999951	B;B	0.18166	0.023;0.026	B;B	0.17433	0.018;0.015	T	0.38887	-0.9640	8	.	.	.	.	1.8424	0.03153	0.1193:0.207:0.1305:0.5432	.	222;222	A2AJT9-2;A2AJT9	.;CX023_HUMAN	E	222;222;222;110	ENSP00000369009:K222E;ENSP00000369004:K222E;ENSP00000349470:K222E	.	K	-	1	0	CXorf23	19893693	0.985000	0.35326	0.033000	0.17914	0.960000	0.62799	0.657000	0.24963	-0.275000	0.09219	0.446000	0.29264	AAA		0.463	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		C	19983772	T	C	19983772	3	2	54	1	0	0	0	0	1	0	0	0	4103	1763	61	4	1420	4	CXorf23	23	19983772	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08		19983772	135286788	114	2749											
KLF8	11279	broad.mit.edu	37	X	56291712	56291712	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chrX:56291712G>A	ENST00000468660.1	+	3	469	c.181G>A	c.(181-183)Gca>Aca	p.A61T	KLF8_ENST00000374928.3_Missense_Mutation_p.A61T	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A61T(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GGAGAACCCAGCACTGTTTAA	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											49	42	44					X																	56291712		2203	4300	6503	56308437	SO:0001583	missense	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.181G>A	X.37:g.56291712G>A	ENSP00000417303:p.Ala61Thr		56308437	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732069	0.15507	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T;T	0.30448	1.53;1.53	4.68	1.8	0.24995	.	0.667620	0.14482	N	0.316902	T	0.25644	0.0624	L	0.53249	1.67	0.24003	N	0.996205	B;B;B	0.23058	0.063;0.079;0.0	B;B;B	0.23419	0.033;0.046;0.0	T	0.23261	-1.0193	10	0.28530	T	0.3	.	6.5092	0.22212	0.0925:0.0:0.5912:0.3162	.	61;61;61	E7EQQ8;B4DJN3;O95600	.;.;KLF8_HUMAN	T	61	ENSP00000364063:A61T;ENSP00000417303:A61T	ENSP00000431911:A61T	A	+	1	0	KLF8	56308437	0.496000	0.26059	0.533000	0.28001	0.595000	0.36748	1.009000	0.29886	0.103000	0.17682	-0.199000	0.12753	GCA		0.488	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		A	56291712	G	A	56291712	3	1	54	1	0	0	0	0	1	0	0	0	8352	971	34	2	191	2	KLF8	23	56291712	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	36307940	56291712	98978848	115	2750											
RGAG4	340526	broad.mit.edu	37	X	71351055	71351055	+	Silent	SNP	G	G	A	rs199597770		TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chrX:71351055G>A	ENST00000545866.1	-	1	703	c.336C>T	c.(334-336)agC>agT	p.S112S	NHSL2_ENST00000373677.1_5'Flank|RGAG4_ENST00000609883.1_Silent_p.S112S|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000535692.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	112								p.S185S(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CGTCGGGGGTGCTGCGATCCT	0.697																																																1	Substitution - coding silent(1)	ovary(1)	X											12	15	14					X																	71351055		1887	4069	5956	71267780	SO:0001819	synonymous_variant	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.336C>T	X.37:g.71351055G>A			71267780	A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	ENST00000545866.1	37	CCDS55446.1																																																																																				0.697	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		A	71351055	G	A	71351055	2	1	54	1	0	0	0	0	0	0	0	1	13278	1310	46	2		2	RGAG4	23	71351055	Silent	SNP	G	TCGA-09-2049-01D-01W-0799-08	15059343	71351055	83919505	116	2751											
MAGEC1	9947	broad.mit.edu	37	X	140995759	140995759	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chrX:140995759T>A	ENST00000285879.4	+	4	2855	c.2569T>A	c.(2569-2571)Tcc>Acc	p.S857T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	857								p.S857T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGTGATCTCCTTCTCCTC	0.507										HNSCC(15;0.026)																																						1	Substitution - Missense(1)	ovary(1)	X											122	128	126					X																	140995759		2203	4300	6503	140823425	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2569T>A	X.37:g.140995759T>A	ENSP00000285879:p.Ser857Thr		140823425	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	N	6.366	0.435605	0.12104	.	.	ENSG00000155495	ENST00000285879	T	0.02140	4.43	0.98	-1.26	0.09376	.	.	.	.	.	T	0.01353	0.0044	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.47100	-0.9143	9	0.36615	T	0.2	.	2.9625	0.05897	0.3941:0.0:0.0:0.6059	.	857	O60732	MAGC1_HUMAN	T	857	ENSP00000285879:S857T	ENSP00000285879:S857T	S	+	1	0	MAGEC1	140823425	0.026000	0.19158	0.001000	0.08648	0.004000	0.04260	0.215000	0.17562	-0.237000	0.09739	0.225000	0.17782	TCC		0.507	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140995759	T	A	140995759	3	1	54	1	0	0	0	0	1	0	0	0	9180	1551	54	5	2575	5	MAGEC1	23	140995759	Missense_Mutation	SNP	T	TCGA-09-2049-01D-01W-0799-08	69644704	140995759	14274801	117	2752											
HCFC1	3054	broad.mit.edu	37	X	153236183	153236183	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2049-01D-01W-0799-08	TCGA-09-2049-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	85345835-e470-4a69-a1b7-45baff9a83d0	83836b9c-ed54-44a2-9938-396efbd69330	g.chrX:153236183G>A	ENST00000310441.7	-	1	1075	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	HCFC1-AS1_ENST00000438219.1_RNA|HCFC1_ENST00000354233.3_Missense_Mutation_p.R37C|HCFC1_ENST00000369984.4_Missense_Mutation_p.R37C|TMEM187_ENST00000369982.4_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	37					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R37C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGCGCGGTGGCCGTGG	0.682																																																1	Substitution - Missense(1)	ovary(1)	X											45	43	43					X																	153236183		1990	4124	6114	152889377	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.109C>T	X.37:g.153236183G>A	ENSP00000309555:p.Arg37Cys		152889377	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088180	0.55968	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.77489	-1.1;-1.1;-1.1	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85930	0.1451	10	0.87932	D	0	.	9.4327	0.38620	0.0:0.0:0.7876:0.2124	.	37	P51610	HCFC1_HUMAN	C	37	ENSP00000309555:R37C;ENSP00000359001:R37C;ENSP00000346174:R37C	ENSP00000309555:R37C	R	-	1	0	HCFC1	152889377	1.000000	0.71417	0.999000	0.59377	0.557000	0.35523	5.094000	0.64523	1.840000	0.53500	0.436000	0.28706	CGC		0.682	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		A	153236183	G	A	153236183	3	1	54	1	0	0	0	0	1	0	0	0	6991	1116	39	1	6102	1	HCFC1	23	153236183	Missense_Mutation	SNP	G	TCGA-09-2049-01D-01W-0799-08	12240424	153236183	2034377	118	2753											
NBPF1	55672	broad.mit.edu	37	1	16907929	16907929	+	Silent	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr1:16907929T>C	ENST00000430580.2	-	15	2252	c.1365A>G	c.(1363-1365)gaA>gaG	p.E455E	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	455	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGCAGATGATTCCAGTACTT	0.433																																																0			1											277	309	297					1																	16907929		1493	2690	4183	16780516	SO:0001819	synonymous_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1365A>G	1.37:g.16907929T>C			16780516	Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		C	16907929	T	C	16907929	2	2	55	1	0	0	0	0	0	0	0	1	10192	1490	52	4		4	NBPF1	1	16907929	Silent	SNP	T	TCGA-09-2050-01A-01W-0799-08		16907929	232342692	1	2754											
E2F2	1870	broad.mit.edu	37	1	23848384	23848384	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr1:23848384C>T	ENST00000361729.2	-	3	949	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	175	Leucine-zipper.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V175M(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCTTCCAGCACGTTGGTGATG	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											147	128	135					1																	23848384		2203	4300	6503	23720971	SO:0001583	missense	1870			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.523G>A	1.37:g.23848384C>T	ENSP00000355249:p.Val175Met		23720971	B2R9W1|Q7Z6H1	Missense_Mutation	SNP	ENST00000361729.2	37	CCDS236.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.532951	0.85812	.	.	ENSG00000007968	ENST00000361729	T	0.36157	1.27	5.35	4.42	0.53409	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.076207	0.52532	D	0.000069	T	0.74207	0.3686	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84412	0.0566	10	0.87932	D	0	-29.4829	13.8731	0.63631	0.154:0.846:0.0:0.0	.	175	Q14209	E2F2_HUMAN	M	175	ENSP00000355249:V175M	ENSP00000355249:V175M	V	-	1	0	E2F2	23720971	1.000000	0.71417	0.834000	0.33040	0.980000	0.70556	7.770000	0.85390	1.212000	0.43366	0.591000	0.81541	GTG		0.587	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091		T	23848384	C	T	23848384	3	4	55	1	0	0	0	0	1	0	0	0	4867	536	19	1	810	1	E2F2	1	23848384	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	6940455	23848384	225402237	2	2755											
TTLL7	79739	broad.mit.edu	37	1	84408222	84408222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	-	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr1:84408222delA	ENST00000260505.8	-	7	1024	c.647delT	c.(646-648)ctafs	p.L216fs	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	216	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.L216fs*26(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AAATATTTTTAGTGGATCACA	0.368																																																1	Deletion - Frameshift(1)	ovary(1)	1											83	84	83					1																	84408222		2203	4300	6503	84180810	SO:0001589	frameshift_variant	79739			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.647delT	1.37:g.84408222delA	ENSP00000260505:p.Leu216fs		84180810	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Frame_Shift_Del	DEL	ENST00000260505.8	37	CCDS690.2																																																																																				0.368	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		-	84408222	A	-	84408222	7	5	55	1	0	1	0	1	0	0	0	0	16732	420	15	0	2076	0	TTLL7	1	84408222	Frame_Shift_Del	DEL	A	TCGA-09-2050-01A-01W-0799-08	60559838	84408222	164842399	3	2756											
GPATCH4	54865	broad.mit.edu	37	1	156568827	156568827	+	Silent	SNP	G	G	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr1:156568827G>A	ENST00000368232.4	-	2	144	c.12C>T	c.(10-12)acC>acT	p.T4T	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000334588.7_5'UTR|GPATCH4_ENST00000438976.2_Intron	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	4							poly(A) RNA binding (GO:0044822)	p.T4T(1)		autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGACCTCTGGGGTGACATTCA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	1											93	83	86					1																	156568827		2203	4300	6503	154835451	SO:0001819	synonymous_variant	54865			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000368232.4:c.12C>T	1.37:g.156568827G>A			154835451	Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Silent	SNP	ENST00000368232.4	37	CCDS1146.1																																																																																				0.483	GPATCH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000081029.2	NM_017725		A	156568827	G	A	156568827	2	1	55	1	0	0	0	0	0	0	0	1	6593	1219	43	2		2	GPATCH4	1	156568827	Silent	SNP	G	TCGA-09-2050-01A-01W-0799-08	72160605	156568827	92681794	4	2757											
SNTG2	54221	broad.mit.edu	37	2	1079341	1079341	+	Splice_Site	SNP	T	T	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:1079341T>A	ENST00000308624.5	+	2	339	c.210T>A	c.(208-210)aaT>aaA	p.N70K	SNTG2_ENST00000407292.1_Splice_Site_p.N70K	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	70					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.N70K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AGGGCAGGAATGTAAGTGCCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	2											112	110	111					2																	1079341		1985	4162	6147	1069341	SO:0001630	splice_region_variant	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.210+1T>A	2.37:g.1079341T>A			1069341	Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	T	0.418	-0.909909	0.02434	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.55234	1.17;0.53	4.23	-2.85	0.05734	PDZ/DHR/GLGF (1);	0.053471	0.64402	D	0.000001	T	0.37404	0.1002	L	0.59436	1.845	0.22656	N	0.998888	B;B	0.33612	0.419;0.011	B;B	0.34180	0.177;0.023	T	0.49495	-0.8934	10	0.02654	T	1	.	9.6742	0.40030	0.0:0.3712:0.0:0.6288	.	70;70	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	K	70	ENSP00000311837:N70K;ENSP00000385020:N70K	ENSP00000311837:N70K	N	+	3	2	SNTG2	1069341	1.000000	0.71417	0.060000	0.19600	0.158000	0.22134	2.285000	0.43487	-0.970000	0.03569	0.482000	0.46254	AAT		0.493	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	Missense_Mutation	A	1079341	T	A	1079341	5	1	55	1	0	0	0	0	0	0	1	0	14878	1478	51	5	216	5	SNTG2	2	1079341	Splice_Site	SNP	T	TCGA-09-2050-01A-01W-0799-08		1079341	242120032	5	2758											
LHCGR	3973	broad.mit.edu	37	2	48915191	48915191	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:48915191A>G	ENST00000294954.7	-	11	1766	c.1745T>C	c.(1744-1746)aTg>aCg	p.M582T	LHCGR_ENST00000405626.1_Missense_Mutation_p.M555T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.M520T|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	582					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.M582T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GATAGGTGCCATGCAGGTGAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											105	105	105					2																	48915191		2203	4300	6503	48768695	SO:0001583	missense	3973				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1745T>C	2.37:g.48915191A>G	ENSP00000294954:p.Met582Thr		48768695	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300484	0.60195	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.71934	-0.61;-0.61;-0.61	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.038565	0.85682	D	0.000000	D	0.88202	0.6373	H	0.94385	3.53	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	D	0.91374	0.5122	9	.	.	.	.	15.1242	0.72469	1.0:0.0:0.0:0.0	.	582	P22888	LSHR_HUMAN	T	520;582;555	ENSP00000344301:M520T;ENSP00000294954:M582T;ENSP00000386033:M555T	.	M	-	2	0	LHCGR	48768695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.176000	0.68965	0.477000	0.44152	ATG		0.368	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		G	48915191	A	G	48915191	3	3	55	1	0	0	0	0	1	0	0	0	8762	217	8	4	358	4	LHCGR	2	48915191	Missense_Mutation	SNP	A	TCGA-09-2050-01A-01W-0799-08	47835850	48915191	194284182	6	2759											
USP34	9736	broad.mit.edu	37	2	61493280	61493280	+	Missense_Mutation	SNP	T	T	A	rs199774527		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:61493280T>A	ENST00000398571.2	-	42	5532	c.5456A>T	c.(5455-5457)aAt>aTt	p.N1819I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1819					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.N1819I(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAACAGGAGATTGAAGATATC	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											67	62	64					2																	61493280		1826	4075	5901	61346784	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5456A>T	2.37:g.61493280T>A	ENSP00000381577:p.Asn1819Ile		61346784	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.108938	0.56398	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.04317	3.8;3.65	5.44	5.44	0.79542	Armadillo-type fold (1);	0.048855	0.85682	D	0.000000	T	0.04952	0.0133	N	0.22421	0.69	0.53688	D	0.999974	B	0.15473	0.013	B	0.11329	0.006	T	0.37731	-0.9693	10	0.62326	D	0.03	.	14.0764	0.64893	0.0:0.0:0.0:1.0	.	1819	Q70CQ2	UBP34_HUMAN	I	1667;1667;1819;97	ENSP00000381577:N1819I;ENSP00000410559:N97I	ENSP00000263989:N1667I	N	-	2	0	USP34	61346784	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	8.040000	0.89188	2.065000	0.61736	0.460000	0.39030	AAT		0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61493280	T	A	61493280	3	1	55	1	0	0	0	0	1	0	0	0	17065	1493	52	5	5340	5	USP34	2	61493280	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	12578089	61493280	181706093	7	2760											
C2orf86	51057	broad.mit.edu	37	2	63631555	63631555	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:63631555C>A	ENST00000272321.7	-	10	1590	c.1063G>T	c.(1063-1065)Ggc>Tgc	p.G355C	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Missense_Mutation_p.G163C|WDPCP_ENST00000409120.1_Missense_Mutation_p.G163C|WDPCP_ENST00000409562.3_Missense_Mutation_p.G355C|WDPCP_ENST00000398544.3_Missense_Mutation_p.G196C	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	355					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.G355C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCTTCACAGCCCAGAATCAGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											126	121	123					2																	63631555		1950	4151	6101	63485059	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1063G>T	2.37:g.63631555C>A	ENSP00000272321:p.Gly355Cys		63485059	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968126	0.74131	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82926	0.5143	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.81545	-0.0884	10	0.42905	T	0.14	-11.939	19.5372	0.95257	0.0:1.0:0.0:0.0	.	163;355;355;196	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	C	355;163;163;196;355	ENSP00000272321:G355C;ENSP00000386592:G163C;ENSP00000386769:G163C;ENSP00000381552:G196C;ENSP00000387222:G355C	ENSP00000272321:G355C	G	-	1	0	WDPCP	63485059	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.738000	0.74822	2.692000	0.91855	0.591000	0.81541	GGC		0.428	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		A	63631555	C	A	63631555	3	1	55	1	0	0	0	0	1	0	0	0	2201	623	22	3	1213	3	C2orf86	2	63631555	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	2138275	63631555	179567818	8	2761											
MARCO	8685	broad.mit.edu	37	2	119739825	119739825	+	Missense_Mutation	SNP	G	G	T	rs376777191		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:119739825G>T	ENST00000327097.4	+	11	1130	c.995G>T	c.(994-996)cGa>cTa	p.R332L	MARCO_ENST00000541757.1_Missense_Mutation_p.R254L	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	332	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.R332L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCCCCTGGGCGAGCAGGTGAG	0.617																																					GBM(8;18 374 7467 11269 32796)											1	Substitution - Missense(1)	ovary(1)	2											87	98	94					2																	119739825		2203	4300	6503	119456295	SO:0001583	missense	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.995G>T	2.37:g.119739825G>T	ENSP00000318916:p.Arg332Leu		119456295	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	g	8.245	0.807679	0.16467	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.92595	-3.07;-3.07	4.79	-5.32	0.02722	.	1.866360	0.02457	N	0.086179	T	0.73961	0.3654	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70121	-0.4959	9	.	.	.	.	3.5564	0.07866	0.1291:0.451:0.134:0.2858	.	332	Q9UEW3	MARCO_HUMAN	L	332;332;254	ENSP00000318916:R332L;ENSP00000441769:R254L	.	R	+	2	0	MARCO	119456295	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.506000	0.00962	-0.876000	0.04017	-1.262000	0.01453	CGA		0.617	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		T	119739825	G	T	119739825	3	4	55	1	0	0	0	0	1	0	0	0	9311	1058	37	3	1037	3	MARCO	2	119739825	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	56108270	119739825	123459548	9	2762											
MGAT5	4249	broad.mit.edu	37	2	135012008	135012008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:135012008C>T	ENST00000409645.1	+	2	286	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Nonsense_Mutation_p.Q12*			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	12					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.Q12*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTTGTCCTCTCAGAAGCTGGG	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	2											139	119	125					2																	135012008		2203	4300	6503	134728478	SO:0001587	stop_gained	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.34C>T	2.37:g.135012008C>T	ENSP00000386377:p.Gln12*		134728478	D3DP70	Nonsense_Mutation	SNP	ENST00000409645.1	37	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	37	6.307656	0.97462	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-27.0265	18.5677	0.91122	0.0:1.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000281923:Q12X	Q	+	1	0	MGAT5	134728478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.677000	0.91161	0.650000	0.86243	CAG		0.488	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		T	135012008	C	T	135012008	4	4	55	1	0	0	0	0	0	1	0	0	9548	827	29	2	36	2	MGAT5	2	135012008	Nonsense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	15272183	135012008	108187365	10	2763											
SCN3A	6328	broad.mit.edu	37	2	165947360	165947360	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:165947360G>C	ENST00000360093.3	-	28	5794	c.5303C>G	c.(5302-5304)gCg>gGg	p.A1768G	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1719G|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Missense_Mutation_p.A251G|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1768G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1768					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1768G(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGATGACCGCGATGTACAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											112	112	112					2																	165947360		2203	4297	6500	165655606	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5303C>G	2.37:g.165947360G>C	ENSP00000353206:p.Ala1768Gly		165655606	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.938246	0.73557	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	6.13	6.13	0.99165	.	0.000000	0.64402	D	0.000004	D	0.99158	0.9709	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.997;0.979;0.999	D	0.99663	1.0994	10	0.62326	D	0.03	.	20.8599	0.99761	0.0:0.0:1.0:0.0	.	1719;1719;1768	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	G	1768;1768;1719;251	ENSP00000353206:A1768G;ENSP00000283254:A1768G;ENSP00000386726:A1719G;ENSP00000439920:A251G	ENSP00000283254:A1768G	A	-	2	0	SCN3A	165655606	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.865000	0.99609	2.937000	0.99478	0.650000	0.86243	GCG		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		C	165947360	G	C	165947360	3	2	55	1	0	0	0	0	1	0	0	0	13921	1087	38	3	703	3	SCN3A	2	165947360	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	30935352	165947360	77252013	11	2764											
TTN	7273	broad.mit.edu	37	2	179600414	179600414	+	Missense_Mutation	SNP	G	G	A	rs371455094		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:179600414G>A	ENST00000591111.1	-	48	14032	c.13808C>T	c.(13807-13809)aCg>aTg	p.T4603M	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T4920M|TTN_ENST00000342992.6_Missense_Mutation_p.T3676M			Q8WZ42	TITIN_HUMAN	titin	12355	Ig-like 26.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T3676M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTCCACGTAACTGTGAC	0.408																																																1	Substitution - Missense(1)	ovary(1)	2						G	,,,MET/THR	3,3743		0,3,1870	95	89	91		,,,11027	4	0	2		91	0,8198		0,0,4099	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,81	0,3,5969	AA,AG,GG		0.0,0.0801,0.0251	,,,benign	,,,3676/33424	179600414	3,11941	1873	4099	5972	179308659	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13808C>T	2.37:g.179600414G>A	ENSP00000465570:p.Thr4603Met		179308659	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	6.120	0.390311	0.11581	8.01E-4	0.0	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	5.77	3.99	0.46301	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58821	0.2149	M	0.62088	1.915	0.21782	N	0.999546	B	0.28584	0.216	B	0.19148	0.024	T	0.56613	-0.7950	9	0.87932	D	0	.	5.5448	0.17057	0.1288:0.1129:0.6417:0.1167	.	4603	Q8WZ42	TITIN_HUMAN	M	3676	ENSP00000343764:T3676M	ENSP00000343764:T3676M	T	-	2	0	TTN	179308659	0.005000	0.15991	0.002000	0.10522	0.876000	0.50452	1.434000	0.34958	0.912000	0.36772	-0.119000	0.15052	ACG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179600414	G	A	179600414	3	1	55	1	0	0	0	0	1	0	0	0	16735	1145	40	1	90022	1	TTN	2	179600414	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	13653054	179600414	63598959	12	2765											
PTH2R	5746	broad.mit.edu	37	2	209358310	209358310	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:209358310G>C	ENST00000272847.2	+	13	1792	c.1579G>C	c.(1579-1581)Gag>Cag	p.E527Q	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	527					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.E527Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TATTCTAATGGAGAAGCCTTC	0.493																																																1	Substitution - Missense(1)	ovary(1)	2											90	88	89					2																	209358310		2203	4300	6503	209066555	SO:0001583	missense	5746			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1579G>C	2.37:g.209358310G>C	ENSP00000272847:p.Glu527Gln		209066555	Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362829	0.11296	.	.	ENSG00000144407	ENST00000272847	T	0.51817	0.69	5.26	3.09	0.35607	.	2.377310	0.02316	U	0.072533	T	0.39091	0.1065	L	0.36672	1.1	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.08055	0.001;0.003	T	0.14364	-1.0475	9	.	.	.	.	5.2819	0.15680	0.5204:0.0:0.4796:0.0	.	416;527	B4DFN8;P49190	.;PTH2R_HUMAN	Q	527	ENSP00000272847:E527Q	.	E	+	1	0	PTH2R	209066555	0.326000	0.24669	0.001000	0.08648	0.007000	0.05969	2.261000	0.43276	0.507000	0.28148	0.591000	0.81541	GAG		0.493	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		C	209358310	G	C	209358310	3	2	55	1	0	0	0	0	1	0	0	0	12763	1175	41	3	1629	3	PTH2R	2	209358310	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	29757896	209358310	33841063	13	2766											
MAP2	4133	broad.mit.edu	37	2	210559403	210559403	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:210559403G>C	ENST00000360351.4	+	7	3015	c.2509G>C	c.(2509-2511)Gag>Cag	p.E837Q	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E833Q	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	837					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E837Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGTCCCATCAGAGACTGTGGT	0.507																																					Pancreas(27;423 979 28787 29963)											1	Substitution - Missense(1)	ovary(1)	2											120	118	119					2																	210559403		2203	4300	6503	210267648	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2509G>C	2.37:g.210559403G>C	ENSP00000353508:p.Glu837Gln		210267648	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883917	0.51908	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25749	1.78;1.78	5.67	5.67	0.87782	MAP2/Tau projection (1);	0.308471	0.27856	N	0.017573	T	0.36220	0.0959	L	0.54323	1.7	0.23454	N	0.997647	P;P	0.43701	0.779;0.815	B;P	0.45377	0.346;0.478	T	0.23048	-1.0199	10	0.87932	D	0	-7.6105	19.7721	0.96370	0.0:0.0:1.0:0.0	.	833;837	P11137-3;P11137	.;MAP2_HUMAN	Q	837;833	ENSP00000353508:E837Q;ENSP00000392164:E833Q	ENSP00000353508:E837Q	E	+	1	0	MAP2	210267648	1.000000	0.71417	0.982000	0.44146	0.895000	0.52256	4.381000	0.59587	2.683000	0.91414	0.557000	0.71058	GAG		0.507	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		C	210559403	G	C	210559403	3	2	55	1	0	0	0	0	1	0	0	0	9235	943	33	3	2523	3	MAP2	2	210559403	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	1201093	210559403	32639970	14	2767											
USP37	57695	broad.mit.edu	37	2	219324534	219324534	+	Silent	SNP	C	C	T	rs71415835		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:219324534C>T	ENST00000258399.3	-	23	3034	c.2622G>A	c.(2620-2622)gaG>gaA	p.E874E	USP37_ENST00000418019.1_Silent_p.E874E|USP37_ENST00000415516.1_Silent_p.E780E|USP37_ENST00000454775.1_Silent_p.E874E	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	874	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.E874E(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTTTCAGTTCCTCAGCTTCAG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	2											160	149	153					2																	219324534		2203	4300	6503	219032778	SO:0001819	synonymous_variant	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2622G>A	2.37:g.219324534C>T			219032778	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	CCDS2418.1																																																																																				0.413	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		T	219324534	C	T	219324534	2	4	55	1	0	0	0	0	0	0	0	1	17068	680	24	2		2	USP37	2	219324534	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08	8765131	219324534	23874839	15	2768											
ASB18	401036	broad.mit.edu	37	2	237149994	237149994	+	Missense_Mutation	SNP	T	T	G	rs560027825		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr2:237149994T>G	ENST00000409749.3	-	2	256	c.257A>C	c.(256-258)aAc>aCc	p.N86T	ASB18_ENST00000330842.6_Missense_Mutation_p.N57T|AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	86					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.N57T(1)		large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		AAACACCACGTTGGCATCCTG	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											102	104	103					2																	237149994		1958	4148	6106	236814733	SO:0001583	missense	401036			AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.257A>C	2.37:g.237149994T>G	ENSP00000386532:p.Asn86Thr		236814733	B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938592	0.73557	.	.	ENSG00000182177	ENST00000330842;ENST00000409749	T;T	0.53206	0.63;0.63	4.82	4.82	0.62117	Ankyrin repeat-containing domain (1);	0.425946	0.23426	N	0.048315	T	0.60612	0.2282	L	0.56340	1.77	0.34091	D	0.660679	D;D	0.60575	0.988;0.982	P;P	0.60473	0.875;0.837	T	0.73811	-0.3865	10	0.87932	D	0	.	14.3566	0.66742	0.0:0.0:0.0:1.0	.	86;57	Q6ZVZ8;Q6ZVZ8-2	ASB18_HUMAN;.	T	57;86	ENSP00000329970:N57T;ENSP00000386532:N86T	ENSP00000329970:N57T	N	-	2	0	ASB18	236814733	1.000000	0.71417	0.918000	0.36340	0.892000	0.51952	5.313000	0.65798	1.926000	0.55796	0.533000	0.62120	AAC		0.532	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		G	237149994	T	G	237149994	3	3	55	1	0	0	0	0	1	0	0	0	1022	1725	60	5	1162	5	ASB18	2	237149994	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	17825460	237149994	6049379	16	2769											
RFTN1	23180	broad.mit.edu	37	3	16358366	16358369	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	ACTT	ACTT	-	-	ACTT	ACTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr3:16358366_16358369delACTT	ENST00000334133.4	-	10	1975_1978	c.1703_1706delAAGT	c.(1702-1707)gaagtcfs	p.EV568fs	RP11-415F23.2_ENST00000607464.1_RNA|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.EV532fs|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000606098.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	568					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.E568fs>10(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAGCTCTCTGACTTCCTCAGCATC	0.544																																																1	Deletion - Frameshift(1)	ovary(1)	3																																								16333373	SO:0001589	frameshift_variant	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1703_1706delAAGT	3.37:g.16358366_16358369delACTT	ENSP00000334153:p.Glu568fs		16333370	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Frame_Shift_Del	DEL	ENST00000334133.4	37	CCDS33712.1																																																																																				0.544	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		-	16358369	ACTT	-	16358366	7	5	55	1	0	1	0	1	0	0	0	0	13261	275	10	0	34	0	RFTN1	3	16358366	Frame_Shift_Del	DEL	ACTT	TCGA-09-2050-01A-01W-0799-08		16358366	181664064	17	2770											
KBTBD5	131377	broad.mit.edu	37	3	42727422	42727422	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr3:42727422G>T	ENST00000287777.4	+	1	412	c.312G>T	c.(310-312)ttG>ttT	p.L104F		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	104					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.L104F(1)									TGCAGGATTTGTTCGCCGCGG	0.617																																																1	Substitution - Missense(1)	ovary(1)	3											82	87	85					3																	42727422		2203	4299	6502	42702426	SO:0001583	missense	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.312G>T	3.37:g.42727422G>T	ENSP00000287777:p.Leu104Phe		42702426	Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.378989	0.61735	.	.	ENSG00000157119	ENST00000287777	T	0.71579	-0.58	4.78	3.83	0.44106	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.057932	0.64402	D	0.000004	T	0.78830	0.4345	M	0.79123	2.44	0.37273	D	0.907494	D	0.60575	0.988	D	0.69479	0.964	T	0.81609	-0.0855	10	0.87932	D	0	.	3.1585	0.06512	0.0978:0.2158:0.5267:0.1597	.	104	Q2TBA0	KBTB5_HUMAN	F	104	ENSP00000287777:L104F	ENSP00000287777:L104F	L	+	3	2	KBTBD5	42702426	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	1.125000	0.31332	2.509000	0.84616	0.655000	0.94253	TTG		0.617	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		T	42727422	G	T	42727422	3	4	55	1	0	0	0	0	1	0	0	0	7996	1368	48	3	314	3	KBTBD5	3	42727422	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	26369056	42727422	155295008	18	2771											
CCR3	1232	broad.mit.edu	37	3	46306815	46306815	+	Missense_Mutation	SNP	G	G	T	rs200897117		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr3:46306815G>T	ENST00000357422.2	+	4	709	c.166G>T	c.(166-168)Gtg>Ttg	p.V56L	CCR3_ENST00000541018.1_Missense_Mutation_p.V56L|CCR3_ENST00000395940.2_Missense_Mutation_p.V56L|CCR3_ENST00000395942.2_Missense_Mutation_p.V56L|CCR3_ENST00000545097.1_Missense_Mutation_p.V77L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	56					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.V56L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGTGGTGGTGGTGATGATCCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	3											158	127	138					3																	46306815		2203	4300	6503	46281819	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.166G>T	3.37:g.46306815G>T	ENSP00000350003:p.Val56Leu		46281819	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496173	0.26861	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000452454;ENST00000395942	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	6.07	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	0.377567	0.22261	N	0.062401	T	0.69878	0.3160	L	0.35487	1.065	0.35102	D	0.765348	B;B;B;B	0.32526	0.374;0.372;0.174;0.208	P;B;B;B	0.51135	0.66;0.309;0.159;0.246	T	0.71915	-0.4448	10	0.56958	D	0.05	.	6.9884	0.24741	0.2103:0.3722:0.4175:0.0	.	56;56;77;56	Q8TDP5;Q8TDP6;F5GWL6;P51677	.;.;.;CCR3_HUMAN	L	56;77;56;56;56;56	ENSP00000350003:V56L;ENSP00000441600:V77L;ENSP00000440097:V56L;ENSP00000379271:V56L;ENSP00000389336:V56L;ENSP00000379273:V56L	ENSP00000350003:V56L	V	+	1	0	CCR3	46281819	0.998000	0.40836	0.913000	0.36048	0.213000	0.24496	0.595000	0.24029	0.089000	0.17243	-0.345000	0.07892	GTG		0.527	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			T	46306815	G	T	46306815	3	4	55	1	0	0	0	0	1	0	0	0	2942	1261	44	3	235	3	CCR3	3	46306815	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	3579393	46306815	151715615	19	2772											
GRK7	131890	broad.mit.edu	37	3	141526491	141526491	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr3:141526491G>C	ENST00000264952.2	+	3	1192	c.1055G>C	c.(1054-1056)gGa>gCa	p.G352A		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	352	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.G352A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TTACAGGCTGGAACCAATGGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											112	116	115					3																	141526491		2203	4300	6503	143009181	SO:0001583	missense	131890				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1055G>C	3.37:g.141526491G>C	ENSP00000264952:p.Gly352Ala		143009181		Missense_Mutation	SNP	ENST00000264952.2	37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563951	0.86335	.	.	ENSG00000114124	ENST00000264952	T	0.39592	1.07	4.41	4.41	0.53225	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	0.72779	0.3503	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81942	-0.0702	10	0.87932	D	0	-9.3058	17.0414	0.86490	0.0:0.0:1.0:0.0	.	352	Q8WTQ7	GRK7_HUMAN	A	352	ENSP00000264952:G352A	ENSP00000264952:G352A	G	+	2	0	GRK7	143009181	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.321000	0.96353	2.015000	0.59207	0.650000	0.86243	GGA		0.428	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		C	141526491	G	C	141526491	3	2	55	1	0	0	0	0	1	0	0	0	6794	1174	41	3	1065	3	GRK7	3	141526491	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	95219676	141526491	56495939	20	2773											
WDR49	151790	broad.mit.edu	37	3	167254678	167254678	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr3:167254678G>T	ENST00000308378.3	-	7	1183	c.878C>A	c.(877-879)cCt>cAt	p.P293H	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.P357H|WDR49_ENST00000476376.1_Missense_Mutation_p.P118H	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	293								p.P293H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGTTTGTGGAGGTAAAAACGC	0.388																																																1	Substitution - Missense(1)	ovary(1)	3											79	73	75					3																	167254678		2203	4300	6503	168737372	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.878C>A	3.37:g.167254678G>T	ENSP00000311343:p.Pro293His		168737372	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.250915|2.250915	0.39797|0.39797	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.70516	.|-0.49;-0.49;-0.49	5.69|5.69	5.69|5.69	0.88448|0.88448	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.227351	.|0.45867	.|D	.|0.000340	D|D	0.85292|0.85292	0.5663|0.5663	M|M	0.88512|0.88512	2.96|2.96	0.27875|0.27875	N|N	0.939884|0.939884	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.989	T|T	0.81309|0.81309	-0.0991|-0.0991	5|10	.|0.87932	.|D	.|0	.|.	11.9868|11.9868	0.53153|0.53153	0.08:0.0:0.92:0.0|0.08:0.0:0.92:0.0	.|.	.|357;293	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	I|H	369|293;118;357	.|ENSP00000311343:P293H;ENSP00000420508:P118H;ENSP00000410863:P357H	.|ENSP00000311343:P293H	L|P	-|-	1|2	0|0	WDR49|WDR49	168737372|168737372	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.022000|0.022000	0.10575|0.10575	5.027000|5.027000	0.64109|0.64109	2.700000|2.700000	0.92200|0.92200	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.388	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		T	167254678	G	T	167254678	3	4	55	1	0	0	0	0	1	0	0	0	17302	1000	35	3	1251	3	WDR49	3	167254678	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	25728187	167254678	30767752	21	2774											
TP63	8626	broad.mit.edu	37	3	189456558	189456558	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr3:189456558A>T	ENST00000264731.3	+	3	408	c.319A>T	c.(319-321)Atg>Ttg	p.M107L	TP63_ENST00000320472.5_Missense_Mutation_p.M107L|TP63_ENST00000418709.2_Missense_Mutation_p.M107L|TP63_ENST00000382063.4_Missense_Mutation_p.M107L|TP63_ENST00000440651.2_Missense_Mutation_p.M107L|TP63_ENST00000392460.3_Missense_Mutation_p.M107L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	107	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.M107L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAGTGACCCCATGTGGGTGAG	0.483										HNSCC(45;0.13)																																						1	Substitution - Missense(1)	ovary(1)	3											96	90	92					3																	189456558		2203	4300	6503	190939252	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.319A>T	3.37:g.189456558A>T	ENSP00000264731:p.Met107Leu		190939252	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.460177	0.26248	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99719	-5.83;-6.09;-6.07;-6.06;-5.83;-6.52	5.67	4.49	0.54785	.	0.152635	0.64402	D	0.000014	D	0.96750	0.8939	N	0.01874	-0.695	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.0;0.0	D	0.95427	0.8513	9	.	.	.	-5.3065	12.1644	0.54120	0.8569:0.1431:0.0:0.0	.	107;107;107;107	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	L	107	ENSP00000264731:M107L;ENSP00000407144:M107L;ENSP00000317510:M107L;ENSP00000376253:M107L;ENSP00000394337:M107L;ENSP00000371495:M107L	.	M	+	1	0	TP63	190939252	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.049000	0.71053	0.957000	0.37930	0.459000	0.35465	ATG		0.483	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		T	189456558	A	T	189456558	3	4	55	1	0	0	0	0	1	0	0	0	16392	217	8	5	329	5	TP63	3	189456558	Missense_Mutation	SNP	A	TCGA-09-2050-01A-01W-0799-08	22201880	189456558	8565872	22	2775											
FAT4	79633	broad.mit.edu	37	4	126241852	126241852	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr4:126241852T>C	ENST00000394329.3	+	1	4299	c.4286T>C	c.(4285-4287)aTt>aCt	p.I1429T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1429	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I1429T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCAAGTCTATTGTTGAGAAC	0.423																																																2	Substitution - Missense(2)	ovary(2)	4											143	134	137					4																	126241852		1884	4111	5995	126461302	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4286T>C	4.37:g.126241852T>C	ENSP00000377862:p.Ile1429Thr		126461302	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735305	0.69189	.	.	ENSG00000196159	ENST00000394329	T	0.56776	0.44	4.87	4.87	0.63330	Cadherin (3);Cadherin-like (1);	0.000000	0.34628	U	0.003808	T	0.76292	0.3967	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.81697	-0.0815	10	0.72032	D	0.01	.	14.6255	0.68618	0.0:0.0:0.0:1.0	.	1429	Q6V0I7	FAT4_HUMAN	T	1429	ENSP00000377862:I1429T	ENSP00000377862:I1429T	I	+	2	0	FAT4	126461302	1.000000	0.71417	0.295000	0.24960	0.935000	0.57460	7.708000	0.84633	2.050000	0.60909	0.533000	0.62120	ATT		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126241852	T	C	126241852	3	2	55	1	0	0	0	0	1	0	0	0	5692	1493	52	4	4288	4	FAT4	4	126241852	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08		126241852	64912424	23	2776											
FAT4	79633	broad.mit.edu	37	4	126367536	126367541	+	In_Frame_Del	DEL	AAAGAT	AAAGAT	-			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	AAAGAT	AAAGAT	-	-	AAAGAT	AAAGAT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr4:126367536_126367541delAAAGAT	ENST00000394329.3	+	8	7295_7300	c.7282_7287delAAAGAT	c.(7282-7287)aaagatdel	p.KD2428del	FAT4_ENST00000335110.5_In_Frame_Del_p.KD726del	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2428	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGGGAAACAAAAGATAATTATACTT	0.447																																																0			4																																								126586991	SO:0001651	inframe_deletion	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7282_7287delAAAGAT	4.37:g.126367536_126367541delAAAGAT	ENSP00000377862:p.Lys2428_Asp2429del		126586986	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	In_Frame_Del	DEL	ENST00000394329.3	37	CCDS3732.3																																																																																				0.447	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		-	126367541	AAAGAT	-	126367536	7	5	55	1	0	1	0	1	0	0	0	0	5692	15	1	0	7312	0	FAT4	4	126367536	In_Frame_Del	DEL	AAAGAT	TCGA-09-2050-01A-01W-0799-08	125684	126367536	64786740	24	2777											
IQGAP2	10788	broad.mit.edu	37	5	75989197	75989197	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr5:75989197T>C	ENST00000274364.6	+	31	4220	c.3923T>C	c.(3922-3924)aTt>aCt	p.I1308T	IQGAP2_ENST00000396234.3_Missense_Mutation_p.I804T|IQGAP2_ENST00000379730.3_Missense_Mutation_p.I810T|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Missense_Mutation_p.I804T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1308					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.I1308T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGCTGATAATTGATGTGATC	0.393																																																1	Substitution - Missense(1)	ovary(1)	5											90	82	85					5																	75989197		2203	4300	6503	76024953	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3923T>C	5.37:g.75989197T>C	ENSP00000274364:p.Ile1308Thr		76024953	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.421653	0.62622	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.97	5.97	0.96955	.	0.177572	0.47852	D	0.000211	T	0.49592	0.1566	M	0.66939	2.045	0.42109	D	0.991374	B;B;B	0.33826	0.427;0.427;0.302	B;B;B	0.38985	0.287;0.287;0.15	T	0.53401	-0.8444	10	0.72032	D	0.01	-8.715	16.4361	0.83875	0.0:0.0:0.0:1.0	.	810;804;1308	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	T	1308;810;1258;804;804	ENSP00000274364:I1308T;ENSP00000442313:I810T;ENSP00000421097:I1258T;ENSP00000379535:I804T;ENSP00000426027:I804T	ENSP00000274364:I1308T	I	+	2	0	IQGAP2	76024953	1.000000	0.71417	0.806000	0.32338	0.955000	0.61496	7.669000	0.83911	2.274000	0.75844	0.533000	0.62120	ATT		0.393	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		C	75989197	T	C	75989197	3	2	55	1	0	0	0	0	1	0	0	0	7815	1493	52	4	4045	4	IQGAP2	5	75989197	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08		75989197	104926063	25	2778											
PCDHA2	56146	broad.mit.edu	37	5	140175782	140175782	+	Silent	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr5:140175782C>T	ENST00000526136.1	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.S411S|PCDHA2_ENST00000520672.2_Silent_p.S411S	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S411S(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACAGCGCCCTGGACC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	5											153	135	141					5																	140175782		2203	4300	6503	140155966	SO:0001819	synonymous_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1233C>T	5.37:g.140175782C>T			140155966	O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	CCDS54914.1																																																																																				0.617	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		T	140175782	C	T	140175782	2	4	55	1	0	0	0	0	0	0	0	1	11524	767	27	1		1	PCDHA2	5	140175782	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08	64186585	140175782	40739478	26	2779											
FBXO38	81545	broad.mit.edu	37	5	147807510	147807510	+	Splice_Site	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr5:147807510G>C	ENST00000340253.5	+	15	2821	c.2653G>C	c.(2653-2655)Gaa>Caa	p.E885Q	FBXO38_ENST00000394370.3_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	885					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E885Q(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGAGTCAGGTATGACAAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	5											42	46	44					5																	147807510		2203	4300	6503	147787703	SO:0001630	splice_region_variant	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2653+1G>C	5.37:g.147807510G>C			147787703	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.301004	0.81136	.	.	ENSG00000145868	ENST00000340253	T	0.36878	1.23	5.54	5.54	0.83059	.	0.154985	0.56097	D	0.000030	T	0.37433	0.1003	N	0.19112	0.55	0.80722	D	1	D	0.59767	0.986	P	0.54590	0.756	T	0.03887	-1.0995	10	0.25751	T	0.34	-14.3133	16.5672	0.84601	0.0:0.0:1.0:0.0	.	885	Q6PIJ6	FBX38_HUMAN	Q	885	ENSP00000342023:E885Q	ENSP00000342023:E885Q	E	+	1	0	FBXO38	147787703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.148000	0.89630	2.779000	0.95612	0.591000	0.81541	GAA		0.493	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	Missense_Mutation	C	147807510	G	C	147807510	5	2	55	1	0	0	0	0	0	0	1	0	5746	1014	35	3	2707	3	FBXO38	5	147807510	Splice_Site	SNP	G	TCGA-09-2050-01A-01W-0799-08	7631728	147807510	33107750	27	2780											
LARP1	23367	broad.mit.edu	37	5	154182974	154182974	+	Splice_Site	SNP	G	G	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr5:154182974G>T	ENST00000336314.4	+	12	2026		c.e12+1			NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1						cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCAGCAAGGTGAGAAGCAG	0.592																																																1	Unknown(1)	ovary(1)	5											56	58	57					5																	154182974		2203	4300	6503	154163167	SO:0001630	splice_region_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2002+1G>T	5.37:g.154182974G>T			154163167	O94836|Q8N4M2|Q8NB73|Q9UFD7	Splice_Site	SNP	ENST00000336314.4	37	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208247	0.79240	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000518677	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9495	0.92636	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LARP1	154163167	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.057000	0.93889	2.463000	0.83235	0.462000	0.41574	.		0.592	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	Intron	T	154182974	G	T	154182974	5	4	55	1	0	0	0	0	0	0	1	0	8628	1275	44	3	2049	3	LARP1	5	154182974	Splice_Site	SNP	G	TCGA-09-2050-01A-01W-0799-08	6375464	154182974	26732286	28	2781											
HLA-DRA	3122	broad.mit.edu	37	6	32410436	32410436	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr6:32410436G>A	ENST00000374982.5	+	2	367	c.294G>A	c.(292-294)atG>atA	p.M98I	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.M98I			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	98	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.M98I(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TGGAAATCATGACAAAGCGCT	0.498									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																																							1	Substitution - Missense(1)	ovary(1)	6											218	202	207					6																	32410436		1511	2709	4220	32518414	SO:0001583	missense	3122	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.294G>A	6.37:g.32410436G>A	ENSP00000364121:p.Met98Ile		32518414	A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37		.	.	.	.	.	.	.	.	.	.	.	13.36	2.215202	0.39102	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.00691	5.84;5.84	5.38	4.51	0.55191	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.728382	0.14459	N	0.318329	T	0.00580	0.0019	M	0.73598	2.24	0.28419	N	0.917839	B;B	0.06786	0.0;0.001	B;B	0.14578	0.008;0.011	T	0.43147	-0.9409	10	0.66056	D	0.02	.	9.7528	0.40485	0.0921:0.0:0.9079:0.0	.	98;98	Q30118;P01903	.;DRA_HUMAN	I	98	ENSP00000378786:M98I;ENSP00000364121:M98I	ENSP00000364121:M98I	M	+	3	0	HLA-DRA	32518414	0.232000	0.23762	0.734000	0.30879	0.637000	0.38172	0.399000	0.20916	1.520000	0.48965	0.638000	0.83543	ATG		0.498	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		A	32410436	G	A	32410436	3	1	55	1	0	0	0	0	1	0	0	0	7207	1290	45	2	300	2	HLA-DRA	6	32410436	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08		32410436	138704631	29	2782											
ANKS1A	23294	broad.mit.edu	37	6	35051281	35051281	+	Splice_Site	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr6:35051281G>C	ENST00000360359.3	+	20	3132		c.e20+1		ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A						ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.?(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCCAACAAGGTGTGCTGCTT	0.537																																																1	Unknown(1)	ovary(1)	6											190	146	161					6																	35051281		2203	4300	6503	35159259	SO:0001630	splice_region_variant	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2994+1G>C	6.37:g.35051281G>C			35159259	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Splice_Site	SNP	ENST00000360359.3	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887456	0.91814	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0077	0.89214	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKS1A	35159259	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	9.777000	0.99008	2.252000	0.74401	0.655000	0.94253	.		0.537	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478	Intron	C	35051281	G	C	35051281	5	2	55	1	0	0	0	0	0	0	1	0	688	1275	44	3	3073	3	ANKS1A	6	35051281	Splice_Site	SNP	G	TCGA-09-2050-01A-01W-0799-08	2640845	35051281	136063786	30	2783											
GLO1	2739	broad.mit.edu	37	6	38670772	38670772	+	Missense_Mutation	SNP	C	C	T	rs377328531		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr6:38670772C>T	ENST00000373365.4	-	1	145	c.59G>A	c.(58-60)tGc>tAc	p.C20Y		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	20					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)	p.C20Y(1)		lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	CGCGTCGGAGCAGCAACTGAG	0.697																																																1	Substitution - Missense(1)	ovary(1)	6						C	TYR/CYS	0,4398		0,0,2199	15	18	17		59	5.7	1	6		17	1,8579		0,1,4289	no	missense	GLO1	NM_006708.2	194	0,1,6488	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	20/185	38670772	1,12977	2199	4290	6489	38778750	SO:0001583	missense	2739			L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"glyoxalase domain containing 1"	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.59G>A	6.37:g.38670772C>T	ENSP00000362463:p.Cys20Tyr		38778750	B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623398	0.66901	0.0	1.17E-4	ENSG00000124767	ENST00000373365	T	0.28895	1.59	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	N	0.08118	0	0.80722	D	1	B	0.30281	0.275	B	0.26202	0.067	T	0.09207	-1.0685	10	0.38643	T	0.18	-21.7195	15.093	0.72211	0.0:1.0:0.0:0.0	.	20	Q04760	LGUL_HUMAN	Y	20	ENSP00000362463:C20Y	ENSP00000362463:C20Y	C	-	2	0	GLO1	38778750	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	3.273000	0.51623	2.941000	0.99782	0.655000	0.94253	TGC		0.697	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		T	38670772	C	T	38670772	3	4	55	1	0	0	0	0	1	0	0	0	6449	710	25	2	519	2	GLO1	6	38670772	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	3619491	38670772	132444295	31	2784											
TCTE1	202500	broad.mit.edu	37	6	44250202	44250202	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr6:44250202A>C	ENST00000371505.4	-	4	1063	c.941T>G	c.(940-942)tTg>tGg	p.L314W	TCTE1_ENST00000371504.1_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	314								p.L314W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTTTTGTGACAAGTCCAGCTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	6											110	98	102					6																	44250202		2203	4300	6503	44358180	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.941T>G	6.37:g.44250202A>C	ENSP00000360560:p.Leu314Trp		44358180	B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.399722	0.83120	.	.	ENSG00000146221	ENST00000371505	T	0.73789	-0.78	5.37	5.37	0.77165	.	0.144724	0.47455	D	0.000227	D	0.90930	0.7149	H	0.98936	4.375	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94532	0.7737	10	0.87932	D	0	-17.9126	15.6802	0.77360	1.0:0.0:0.0:0.0	.	314	Q5JU00	TCTE1_HUMAN	W	314	ENSP00000360560:L314W	ENSP00000360560:L314W	L	-	2	0	TCTE1	44358180	1.000000	0.71417	0.994000	0.49952	0.769000	0.43574	8.896000	0.92521	2.176000	0.68965	0.374000	0.22700	TTG		0.567	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		C	44250202	A	C	44250202	3	2	55	1	0	0	0	0	1	0	0	0	15717	131	5	5	572	5	TCTE1	6	44250202	Missense_Mutation	SNP	A	TCGA-09-2050-01A-01W-0799-08	5579430	44250202	126864865	32	2785											
SUPT3H	8464	broad.mit.edu	37	6	44971503	44971503	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr6:44971503T>C	ENST00000371459.1	-	6	556	c.391A>G	c.(391-393)Aac>Gac	p.N131D	SUPT3H_ENST00000371461.2_Missense_Mutation_p.N142D|SUPT3H_ENST00000306867.5_Missense_Mutation_p.N131D|SUPT3H_ENST00000371460.1_Missense_Mutation_p.N142D	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	213					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.N142D(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TGTCTTTTGTTCGCATTATTG	0.343																																																1	Substitution - Missense(1)	ovary(1)	6											146	127	134					6																	44971503		2202	4299	6501	45079481	SO:0001583	missense	8464			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.391A>G	6.37:g.44971503T>C	ENSP00000360514:p.Asn131Asp		45079481	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.122874	0.56613	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.46063	0.88;0.9;0.9;0.88	5.66	5.66	0.87406	.	0.131133	0.64402	D	0.000002	T	0.47078	0.1426	M	0.62723	1.935	0.42061	D	0.991161	P;D	0.69078	0.813;0.997	B;D	0.73380	0.444;0.98	T	0.45527	-0.9255	10	0.10636	T	0.68	-15.2252	15.8893	0.79279	0.0:0.0:0.0:1.0	.	142;213	O75486-3;O75486	.;SUPT3_HUMAN	D	142;131;131;142	ENSP00000360515:N142D;ENSP00000360514:N131D;ENSP00000306718:N131D;ENSP00000360516:N142D	ENSP00000306718:N131D	N	-	1	0	SUPT3H	45079481	1.000000	0.71417	0.916000	0.36221	0.575000	0.36095	6.318000	0.72866	2.153000	0.67306	0.528000	0.53228	AAC		0.343	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		C	44971503	T	C	44971503	3	2	55	1	0	0	0	0	1	0	0	0	15397	1783	62	4	586	4	SUPT3H	6	44971503	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	721301	44971503	126143564	33	2786											
GCLC	2729	broad.mit.edu	37	6	53373417	53373417	+	Silent	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr6:53373417T>C	ENST00000229416.6	-	8	1404	c.921A>G	c.(919-921)agA>agG	p.R307R	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	307					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)	p.R307R(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CCTCCCGAGTTCTATCATCTA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	6											132	129	130					6																	53373417		2203	4300	6503	53481376	SO:0001819	synonymous_variant	2729			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.921A>G	6.37:g.53373417T>C			53481376	Q14399	Silent	SNP	ENST00000229416.6	37	CCDS4952.1																																																																																				0.433	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			C	53373417	T	C	53373417	2	2	55	1	0	0	0	0	0	0	0	1	6295	1780	62	4		4	GCLC	6	53373417	Silent	SNP	T	TCGA-09-2050-01A-01W-0799-08	8401914	53373417	117741650	34	2787											
KIAA1244	57221	broad.mit.edu	37	6	138531163	138531163	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr6:138531163G>T	ENST00000251691.4	+	4	502	c.336G>T	c.(334-336)caG>caT	p.Q112H		NM_020340.4	NP_065073.3			KIAA1244									p.Q41H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGACCTGCAGGTGGAAGTGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	6											154	116	129					6																	138531163		2203	4300	6503	138572856	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.336G>T	6.37:g.138531163G>T	ENSP00000251691:p.Gln112His		138572856		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626071	0.66901	.	.	ENSG00000112379	ENST00000251691	T	0.05081	3.5	5.71	4.84	0.62591	.	0.299826	0.35436	N	0.003207	T	0.09992	0.0245	L	0.52573	1.65	0.53005	D	0.99996	D	0.71674	0.998	D	0.79784	0.993	T	0.01729	-1.1286	10	0.87932	D	0	-8.1441	8.869	0.35305	0.2731:0.0:0.7269:0.0	.	112	Q5TH69	BIG3_HUMAN	H	112	ENSP00000251691:Q112H	ENSP00000251691:Q112H	Q	+	3	2	KIAA1244	138572856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.308000	0.59129	1.416000	0.47057	0.555000	0.69702	CAG		0.498	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138531163	G	T	138531163	3	4	55	1	0	0	0	0	1	0	0	0	8217	991	35	3	350	3	KIAA1244	6	138531163	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	85157746	138531163	32583904	35	2788											
TULP4	56995	broad.mit.edu	37	6	158910754	158910754	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr6:158910754A>G	ENST00000367097.3	+	9	2978	c.1621A>G	c.(1621-1623)Aaa>Gaa	p.K541E	TULP4_ENST00000367094.2_Missense_Mutation_p.K541E	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	541					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K541E(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAAATCACCCAAACTCCCAAG	0.483																																																1	Substitution - Missense(1)	ovary(1)	6											119	108	112					6																	158910754		2203	4300	6503	158830742	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1621A>G	6.37:g.158910754A>G	ENSP00000356064:p.Lys541Glu		158830742	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	31	5.090961	0.94149	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.62639	0.01;0.86	5.57	5.57	0.84162	Tubby, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.36672	1.1	0.58432	D	0.999997	D;D	0.71674	0.974;0.998	D;D	0.75484	0.969;0.986	T	0.65109	-0.6248	10	0.40728	T	0.16	-11.4375	15.7259	0.77761	1.0:0.0:0.0:0.0	.	541;541	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	E	541	ENSP00000356064:K541E;ENSP00000356061:K541E	ENSP00000356061:K541E	K	+	1	0	TULP4	158830742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.820000	0.92003	2.113000	0.64589	0.533000	0.62120	AAA		0.483	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		G	158910754	A	G	158910754	3	3	55	1	0	0	0	0	1	0	0	0	16776	131	5	4	1655	4	TULP4	6	158910754	Missense_Mutation	SNP	A	TCGA-09-2050-01A-01W-0799-08	20379591	158910754	12204313	36	2789											
WIPF3	644150	broad.mit.edu	37	7	29915498	29915498	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr7:29915498C>T	ENST00000409290.1	+	2	143	c.143C>T	c.(142-144)gCg>gTg	p.A48V	WIPF3_ENST00000409123.1_Missense_Mutation_p.A48V|WIPF3_ENST00000242140.5_Missense_Mutation_p.A48V	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	48	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)		p.A48V(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GGCCGGAGTGCGCTGTTGGCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	7											60	68	65					7																	29915498		2114	4245	6359	29882023	SO:0001583	missense	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.143C>T	7.37:g.29915498C>T	ENSP00000386878:p.Ala48Val		29882023	B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347472	0.61183	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.63255	-0.03;-0.03;-0.03	5.22	4.34	0.51931	Actin-binding WH2 (3);	0.081640	0.46442	N	0.000297	T	0.65365	0.2684	M	0.93462	3.42	0.36305	D	0.857304	P	0.41214	0.742	B	0.31191	0.125	T	0.77048	-0.2732	10	0.87932	D	0	.	9.7304	0.40357	0.0:0.9045:0.0:0.0955	.	48	A6NGB9	WIPF3_HUMAN	V	48	ENSP00000386790:A48V;ENSP00000386878:A48V;ENSP00000242140:A48V	ENSP00000242140:A48V	A	+	2	0	WIPF3	29882023	1.000000	0.71417	0.943000	0.38184	0.783000	0.44284	5.772000	0.68889	1.196000	0.43129	0.643000	0.83706	GCG		0.542	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			T	29915498	C	T	29915498	3	4	55	1	0	0	0	0	1	0	0	0	17369	768	27	1	149	1	WIPF3	7	29915498	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08		29915498	129223165	37	2790											
ELMO1	9844	broad.mit.edu	37	7	37298836	37298836	+	Silent	SNP	T	T	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr7:37298836T>A	ENST00000310758.4	-	6	1010	c.363A>T	c.(361-363)atA>atT	p.I121I	ELMO1_ENST00000442504.1_Silent_p.I121I|ELMO1_ENST00000448602.1_Silent_p.I121I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	121					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.I121I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CGTCCAGGTTTATAAACTCCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	7											59	55	57					7																	37298836		2203	4300	6503	37265361	SO:0001819	synonymous_variant	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.363A>T	7.37:g.37298836T>A			37265361	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	CCDS5449.1																																																																																				0.547	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		A	37298836	T	A	37298836	2	1	55	1	0	0	0	0	0	0	0	1	5065	1744	61	5		5	ELMO1	7	37298836	Silent	SNP	T	TCGA-09-2050-01A-01W-0799-08	7383338	37298836	121839827	38	2791											
AMPH	273	broad.mit.edu	37	7	38505849	38505849	+	Splice_Site	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr7:38505849C>T	ENST00000356264.2	-	8	806		c.e8-1		AMPH_ENST00000428293.2_Splice_Site|AMPH_ENST00000325590.5_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.?(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCAACTCGTCTGCCATGTGG	0.368																																																1	Unknown(1)	ovary(1)	7											47	46	46					7																	38505849		2203	4300	6503	38472374	SO:0001630	splice_region_variant	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.591-1G>A	7.37:g.38505849C>T			38472374	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600260	0.66332	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8994	0.96980	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMPH	38472374	1.000000	0.71417	0.995000	0.50966	0.631000	0.37964	6.599000	0.74127	2.707000	0.92482	0.555000	0.69702	.		0.368	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	Intron	T	38505849	C	T	38505849	5	4	55	1	0	0	0	0	0	0	1	0	588	927	32	2	1553	2	AMPH	7	38505849	Splice_Site	SNP	C	TCGA-09-2050-01A-01W-0799-08	1207013	38505849	120632814	39	2792											
MAGI2	9863	broad.mit.edu	37	7	78636415	78636415	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr7:78636415T>G	ENST00000354212.4	-	2	662	c.409A>C	c.(409-411)Acg>Ccg	p.T137P	MAGI2_ENST00000419488.1_Missense_Mutation_p.T137P|MAGI2-AS2_ENST00000411616.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.T137P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	137	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.T137P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CATGGCACCGTGCGGAGGTAG	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											148	129	136					7																	78636415		2203	4300	6503	78474351	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.409A>C	7.37:g.78636415T>G	ENSP00000346151:p.Thr137Pro		78474351	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490741	0.84962	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.39787	1.06;1.06;1.06	5.29	5.29	0.74685	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.66376	0.2783	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71839	-0.4471	9	0.87932	D	0	.	14.4064	0.67086	0.0:0.0:0.0:1.0	.	137;137	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	P	137	ENSP00000405766:T137P;ENSP00000346151:T137P;ENSP00000428389:T137P	ENSP00000346151:T137P	T	-	1	0	MAGI2	78474351	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.902000	0.87389	1.998000	0.58463	0.519000	0.50382	ACG		0.373	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		G	78636415	T	G	78636415	3	3	55	1	0	0	0	0	1	0	0	0	9191	1696	59	5	4042	5	MAGI2	7	78636415	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	40130566	78636415	80502248	40	2793											
SEMA3A	10371	broad.mit.edu	37	7	83764252	83764252	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr7:83764252T>A	ENST00000265362.4	-	2	442	c.128A>T	c.(127-129)aAc>aTc	p.N43I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.N43I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	43	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.N43I(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GATCACATTGTTGGATTCCAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	7											114	105	108					7																	83764252		2203	4300	6503	83602188	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.128A>T	7.37:g.83764252T>A	ENSP00000265362:p.Asn43Ile		83602188		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	t	13.29	2.191751	0.38707	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.25085	1.82;1.82;1.82	4.93	2.55	0.30701	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.317791	0.41294	D	0.000906	T	0.33702	0.0872	M	0.85542	2.76	0.53005	D	0.999962	B	0.23591	0.088	B	0.31614	0.133	T	0.08166	-1.0735	10	0.37606	T	0.19	.	9.2697	0.37664	0.0:0.1489:0.0:0.8511	.	43	Q14563	SEM3A_HUMAN	I	43	ENSP00000265362:N43I;ENSP00000415260:N43I;ENSP00000391900:N43I	ENSP00000265362:N43I	N	-	2	0	SEMA3A	83602188	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.880000	0.39628	0.317000	0.23160	-0.605000	0.04089	AAC		0.408	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		A	83764252	T	A	83764252	3	1	55	1	0	0	0	0	1	0	0	0	14027	1725	60	5	2251	5	SEMA3A	7	83764252	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	5127837	83764252	75374411	41	2794											
PPP1R3A	5506	broad.mit.edu	37	7	113558793	113558793	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr7:113558793T>C	ENST00000284601.3	-	1	327	c.259A>G	c.(259-261)Agt>Ggt	p.S87G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	87					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.S87G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTGAAGCACTCGGTAATTCC	0.398																																																1	Substitution - Missense(1)	ovary(1)	7											93	89	90					7																	113558793		2203	4300	6503	113346029	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.259A>G	7.37:g.113558793T>C	ENSP00000284601:p.Ser87Gly		113346029	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	6.712	0.499984	0.12762	.	.	ENSG00000154415	ENST00000284601	T	0.17370	2.28	6.17	2.16	0.27623	.	0.543921	0.21018	N	0.081576	T	0.12561	0.0305	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.27088	-1.0084	10	0.21540	T	0.41	-0.1205	10.9338	0.47233	0.0:0.2029:0.0:0.7971	.	87	Q16821	PPR3A_HUMAN	G	87	ENSP00000284601:S87G	ENSP00000284601:S87G	S	-	1	0	PPP1R3A	113346029	0.036000	0.19791	0.052000	0.19188	0.849000	0.48306	2.378000	0.44309	0.569000	0.29329	0.533000	0.62120	AGT		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		C	113558793	T	C	113558793	3	2	55	1	0	0	0	0	1	0	0	0	12374	1551	54	4	3125	4	PPP1R3A	7	113558793	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	29794541	113558793	45579870	42	2795											
UBXN2B	137886	broad.mit.edu	37	8	59358548	59358548	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr8:59358548G>A	ENST00000399598.2	+	7	876	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	252	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.D252N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTTATTGATGATTCAGTGCC	0.363																																																1	Substitution - Missense(1)	ovary(1)	8											139	122	127					8																	59358548		1858	4090	5948	59521102	SO:0001583	missense	137886			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.754G>A	8.37:g.59358548G>A	ENSP00000382507:p.Asp252Asn		59521102	B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.886211	0.91814	.	.	ENSG00000215114	ENST00000399598	T	0.44881	0.91	5.3	5.3	0.74995	UBX (2);	0.000000	0.46145	U	0.000302	T	0.52451	0.1735	L	0.54965	1.715	0.51233	D	0.999917	P	0.43938	0.822	P	0.51055	0.657	T	0.46512	-0.9186	10	0.41790	T	0.15	1.0629	17.5613	0.87908	0.0:0.0:1.0:0.0	.	252	Q14CS0	UBX2B_HUMAN	N	252	ENSP00000382507:D252N	ENSP00000382507:D252N	D	+	1	0	UBXN2B	59521102	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.499000	0.53310	2.670000	0.90874	0.650000	0.86243	GAT		0.363	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		A	59358548	G	A	59358548	3	1	55	1	0	0	0	0	1	0	0	0	16915	1290	45	2	780	2	UBXN2B	8	59358548	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08		59358548	87005474	43	2796											
VPS13B	157680	broad.mit.edu	37	8	100887770	100887770	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr8:100887770C>A	ENST00000358544.2	+	62	12056	c.11945C>A	c.(11944-11946)gCt>gAt	p.A3982D	VPS13B_ENST00000357162.2_Missense_Mutation_p.A3957D|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3982					protein transport (GO:0015031)			p.A3982D(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGTGGTGGCTGCAGAACCT	0.458																																					Colon(161;2205 2542 7338 31318)											1	Substitution - Missense(1)	ovary(1)	8											149	128	135					8																	100887770		2203	4300	6503	100956946	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11945C>A	8.37:g.100887770C>A	ENSP00000351346:p.Ala3982Asp		100956946	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177591	0.57692	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70164	-0.46;-0.46	5.65	4.78	0.61160	.	0.446125	0.23997	N	0.042519	T	0.59142	0.2172	N	0.19112	0.55	0.80722	D	1	P;B	0.41188	0.741;0.437	P;B	0.46110	0.504;0.143	T	0.59742	-0.7397	10	0.38643	T	0.18	.	14.6071	0.68486	0.0:0.9299:0.0:0.0701	.	3957;3982	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	D	3957;3982	ENSP00000349685:A3957D;ENSP00000351346:A3982D	ENSP00000349685:A3957D	A	+	2	0	VPS13B	100956946	0.999000	0.42202	0.986000	0.45419	0.840000	0.47671	4.187000	0.58344	1.392000	0.46585	-0.140000	0.14226	GCT		0.458	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100887770	C	A	100887770	3	1	55	1	0	0	0	0	1	0	0	0	17190	797	28	3	12381	3	VPS13B	8	100887770	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	41529222	100887770	45476252	44	2797											
CHRAC1	54108	broad.mit.edu	37	8	141521679	141521679	+	Silent	SNP	C	C	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr8:141521679C>A	ENST00000220913.5	+	1	283	c.81C>A	c.(79-81)atC>atA	p.I27I	CHRAC1_ENST00000519533.1_Silent_p.I27I	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	27					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)	p.I27I(1)		ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TCCGGGTCATCATGAAGAGCT	0.687																																																1	Substitution - coding silent(1)	ovary(1)	8											24	21	22					8																	141521679		2200	4298	6498	141590861	SO:0001819	synonymous_variant	54108			AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"histone-fold protein CHRAC15"	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.81C>A	8.37:g.141521679C>A			141590861		Silent	SNP	ENST00000220913.5	37	CCDS6379.1																																																																																				0.687	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		A	141521679	C	A	141521679	2	1	55	1	0	0	0	0	0	0	0	1	3371	816	29	3		3	CHRAC1	8	141521679	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08	40633909	141521679	4842343	45	2798											
C8orf31	286122	broad.mit.edu	37	8	144124643	144124643	+	Silent	SNP	C	C	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr8:144124643C>G	ENST00000395172.1	+	3	502	c.150C>G	c.(148-150)ccC>ccG	p.P50P	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	50								p.P50P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGAGGTCTCCCTTGCAGCAAG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	8											39	41	40					8																	144124643		2203	4300	6503	144196018	SO:0001819	synonymous_variant	286122				CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.150C>G	8.37:g.144124643C>G			144196018	Q6GMU7	Silent	SNP	ENST00000395172.1	37	CCDS6395.1																																																																																				0.622	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		G	144124643	C	G	144124643	2	3	55	1	0	0	0	0	0	0	0	1	2420	668	24	3		3	C8orf31	8	144124643	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08	2602964	144124643	2239379	46	2799											
FLJ46321	389763	broad.mit.edu	37	9	84607573	84607573	+	Missense_Mutation	SNP	G	G	C	rs368257035		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr9:84607573G>C	ENST00000344803.2	+	4	2235	c.2188G>C	c.(2188-2190)Gga>Cga	p.G730R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	730					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G730R(1)									GAGAATTCATGGACCGTTAAA	0.483																																																1	Substitution - Missense(1)	ovary(1)	9											67	59	62					9																	84607573		1850	4098	5948	83797393	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2188G>C	9.37:g.84607573G>C	ENSP00000341988:p.Gly730Arg		83797393		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666412	0.29604	.	.	ENSG00000214929	ENST00000344803	T	0.11604	2.76	2.64	2.64	0.31445	.	1.196360	0.06207	N	0.684414	T	0.14356	0.0347	L	0.37561	1.115	0.09310	N	1	P	0.40302	0.712	P	0.49752	0.621	T	0.17930	-1.0353	10	0.09084	T	0.74	-0.8672	8.9283	0.35655	0.0:0.0:1.0:0.0	.	730	Q6ZQQ2	F75D1_HUMAN	R	730	ENSP00000341988:G730R	ENSP00000341988:G730R	G	+	1	0	FAM75D1	83797393	0.000000	0.05858	0.015000	0.15790	0.008000	0.06430	0.154000	0.16343	1.788000	0.52465	0.511000	0.50034	GGA		0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		C	84607573	G	C	84607573	3	2	55	1	0	0	0	0	1	0	0	0	5932	1349	47	3	2202	3	FLJ46321	9	84607573	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08		84607573	56605858	47	2800											
GRIN3A	116443	broad.mit.edu	37	9	104432515	104432515	+	Silent	SNP	A	A	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr9:104432515A>G	ENST00000361820.3	-	3	2779	c.2179T>C	c.(2179-2181)Ttg>Ctg	p.L727L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	727					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.L727L(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTGCCAAACAAGAGGGCATAA	0.423																																																1	Substitution - coding silent(1)	ovary(1)	9											107	105	106					9																	104432515		2203	4300	6503	103472336	SO:0001819	synonymous_variant	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2179T>C	9.37:g.104432515A>G			103472336	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.423	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			G	104432515	A	G	104432515	2	3	55	1	0	0	0	0	0	0	0	1	6783	69	3	4		4	GRIN3A	9	104432515	Silent	SNP	A	TCGA-09-2050-01A-01W-0799-08	19824942	104432515	36780916	48	2801											
TUBB2C	10383	broad.mit.edu	37	9	140137892	140137892	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr9:140137892T>A	ENST00000340384.4	+	4	1370	c.1222T>A	c.(1222-1224)Ttc>Atc	p.F408I		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	408					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.F408I(1)								Albendazole(DB00518)|Mebendazole(DB00643)	CGAGATGGAGTTCACCGAGGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	9											101	98	99					9																	140137892		2203	4297	6500	139257713	SO:0001583	missense	10383			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.1222T>A	9.37:g.140137892T>A	ENSP00000341289:p.Phe408Ile		139257713	A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806445	0.70682	.	.	ENSG00000188229	ENST00000340384	D	0.87103	-2.21	5.57	5.57	0.84162	.	0.062592	0.64402	D	0.000006	D	0.96454	0.8843	H	0.99104	4.43	0.58432	D	0.999997	D	0.76494	0.999	D	0.91635	0.999	D	0.98068	1.0397	10	0.87932	D	0	.	14.5794	0.68274	0.0:0.0:0.0:1.0	.	408	P68371	TBB4B_HUMAN	I	408	ENSP00000341289:F408I	ENSP00000341289:F408I	F	+	1	0	TUBB2C	139257713	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.152000	0.71812	2.122000	0.65172	0.533000	0.62120	TTC		0.617	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		A	140137892	T	A	140137892	3	1	55	1	0	0	0	0	1	0	0	0	16756	1725	60	5	1236	5	TUBB2C	9	140137892	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	35705377	140137892	1075539	49	2802											
CUBN	8029	broad.mit.edu	37	10	16911718	16911718	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr10:16911718C>T	ENST00000377833.4	-	59	9436	c.9371G>A	c.(9370-9372)aGc>aAc	p.S3124N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3124	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S3124N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTATTATTGCTGCTCTTCAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	10											154	163	160					10																	16911718		2203	4300	6503	16951724	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9371G>A	10.37:g.16911718C>T	ENSP00000367064:p.Ser3124Asn		16951724	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786409	0.31593	.	.	ENSG00000107611	ENST00000377833	T	0.19105	2.17	5.69	1.51	0.23008	CUB (5);	0.554928	0.16417	N	0.215360	T	0.39682	0.1087	M	0.70595	2.14	0.46336	D	0.998999	D	0.65815	0.995	D	0.65443	0.935	T	0.10520	-1.0626	10	0.33141	T	0.24	.	11.4046	0.49889	0.0:0.292:0.6234:0.0846	.	3124	O60494	CUBN_HUMAN	N	3124	ENSP00000367064:S3124N	ENSP00000367064:S3124N	S	-	2	0	CUBN	16951724	0.974000	0.33945	0.411000	0.26484	0.003000	0.03518	0.822000	0.27352	0.316000	0.23135	-0.172000	0.13284	AGC		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16911718	C	T	16911718	3	4	55	1	0	0	0	0	1	0	0	0	4051	797	28	2	1536	2	CUBN	10	16911718	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08		16911718	118623029	50	2803											
YME1L1	10730	broad.mit.edu	37	10	27425283	27425283	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr10:27425283C>G	ENST00000326799.3	-	6	781	c.633G>C	c.(631-633)ttG>ttC	p.L211F	YME1L1_ENST00000376016.3_Missense_Mutation_p.L154F|YME1L1_ENST00000375972.3_Missense_Mutation_p.L121F|YME1L1_ENST00000463270.1_5'Flank	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	211					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L211F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCCTTGATTTCAAAGTTTTAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	10											104	96	98					10																	27425283		2203	4300	6503	27465289	SO:0001583	missense	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.633G>C	10.37:g.27425283C>G	ENSP00000318480:p.Leu211Phe		27465289	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128541	0.56721	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.93366	-3.13;-3.15;-3.21	5.46	1.56	0.23342	Peptidase M41, FtsH (1);	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	L	0.46157	1.445	0.50171	D	0.999851	D;D;P	0.59767	0.986;0.96;0.781	P;P;B	0.51918	0.655;0.684;0.41	D	0.86232	0.1638	10	0.19147	T	0.46	-10.5584	9.6756	0.40039	0.0:0.7139:0.0:0.2861	.	121;154;211	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	F	154;211;211;121;121;146	ENSP00000365184:L154F;ENSP00000318480:L211F;ENSP00000365139:L121F	ENSP00000318480:L211F	L	-	3	2	YME1L1	27465289	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.637000	0.24659	0.281000	0.22233	-0.140000	0.14226	TTG		0.358	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		G	27425283	C	G	27425283	3	3	55	1	0	0	0	0	1	0	0	0	17487	825	29	3	1748	3	YME1L1	10	27425283	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	10513565	27425283	108109464	51	2804											
ANKRD30A	91074	broad.mit.edu	37	10	37451766	37451766	+	Silent	SNP	A	A	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr10:37451766A>T	ENST00000602533.1	+	17	1923	c.1824A>T	c.(1822-1824)acA>acT	p.T608T	ANKRD30A_ENST00000374660.1_Silent_p.T608T|ANKRD30A_ENST00000361713.1_Silent_p.T608T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	664					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T608T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATGAACAAACATTGAGAGCAG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	10											102	90	93					10																	37451766		1812	4065	5877	37491772	SO:0001819	synonymous_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1824A>T	10.37:g.37451766A>T			37491772	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																					0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		T	37451766	A	T	37451766	2	4	55	1	0	0	0	0	0	0	0	1	658	204	8	5		5	ANKRD30A	10	37451766	Silent	SNP	A	TCGA-09-2050-01A-01W-0799-08	10026483	37451766	98082981	52	2805											
ANK3	288	broad.mit.edu	37	10	61967869	61967869	+	Silent	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr10:61967869C>T	ENST00000280772.2	-	10	1310	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	ANK3_ENST00000373827.2_Silent_p.V367V|ANK3_ENST00000503366.1_Silent_p.V356V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	373					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V373V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGTGGGCAGCCACGTGTAGGG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	10											169	139	149					10																	61967869		2203	4300	6503	61637875	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1119G>A	10.37:g.61967869C>T			61637875	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.522	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61967869	C	T	61967869	2	4	55	1	0	0	0	0	0	0	0	1	622	581	21	2		2	ANK3	10	61967869	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08	24516103	61967869	73566878	53	2806											
PLCE1	51196	broad.mit.edu	37	10	96006017	96006017	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr10:96006017A>G	ENST00000371380.3	+	7	2970	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S	PLCE1_ENST00000260766.3_Missense_Mutation_p.N912S|PLCE1_ENST00000371375.1_Missense_Mutation_p.N604S|PLCE1_ENST00000371385.3_Missense_Mutation_p.N604S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	912					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.N912S(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGTGTACTTAATAACACAGCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	10											55	61	59					10																	96006017		1974	4152	6126	95996007	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2735A>G	10.37:g.96006017A>G	ENSP00000360431:p.Asn912Ser		95996007	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.492994	0.01009	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	6.04	-0.309	0.12769	.	0.600185	0.17133	N	0.185758	T	0.07324	0.0185	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31558	-0.9939	10	0.02654	T	1	.	3.0965	0.06312	0.1851:0.2188:0.483:0.1131	.	912;604;912	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	912;912;604;604	ENSP00000260766:N912S;ENSP00000360431:N912S;ENSP00000360438:N604S;ENSP00000360426:N604S	ENSP00000260766:N912S	N	+	2	0	PLCE1	95996007	0.929000	0.31497	0.002000	0.10522	0.684000	0.39900	1.472000	0.35376	-0.310000	0.08766	-0.473000	0.04963	AAT		0.502	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		G	96006017	A	G	96006017	3	3	55	1	0	0	0	0	1	0	0	0	12034	101	4	4	3047	4	PLCE1	10	96006017	Missense_Mutation	SNP	A	TCGA-09-2050-01A-01W-0799-08	34038148	96006017	39528730	54	2807											
SLIT1	6585	broad.mit.edu	37	10	98816965	98816965	+	Splice_Site	SNP	A	A	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr10:98816965A>C	ENST00000266058.4	-	12	1403		c.e12+1		ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site|SLIT1_ENST00000371070.4_Splice_Site	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)						axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.?(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATTCGTTCTTACAGGAGCTGT	0.567																																																1	Unknown(1)	ovary(1)	10											73	67	69					10																	98816965		2203	4300	6503	98806955	SO:0001630	splice_region_variant	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1157+1T>G	10.37:g.98816965A>C			98806955	Q5T0V1|Q8WWZ2|Q9UIL7	Splice_Site	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458830	0.84317	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.228	0.73364	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLIT1	98806955	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.802000	0.91910	2.080000	0.62538	0.459000	0.35465	.		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	Intron	C	98816965	A	C	98816965	5	2	55	1	0	0	0	0	0	0	1	0	14742	405	14	5	3549	5	SLIT1	10	98816965	Splice_Site	SNP	A	TCGA-09-2050-01A-01W-0799-08	2810948	98816965	36717782	55	2808											
NRAP	4892	broad.mit.edu	37	10	115377234	115377234	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr10:115377234T>C	ENST00000359988.3	-	26	3197	c.2953A>G	c.(2953-2955)Agt>Ggt	p.S985G	NRAP_ENST00000369358.4_Missense_Mutation_p.S993G|NRAP_ENST00000360478.3_Missense_Mutation_p.S950G|NRAP_ENST00000369360.3_Missense_Mutation_p.S958G	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.S985G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGGTATAACTAATTCTGGCC	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											159	147	151					10																	115377234		2203	4300	6503	115367224	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2953A>G	10.37:g.115377234T>C	ENSP00000353078:p.Ser985Gly		115367224		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177445	0.78564	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.73962	2.25	0.49483	D	0.999792	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.999;0.998;0.987	T	0.66929	-0.5799	10	0.33940	T	0.23	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	985;950;985	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	G	993;958;985;950	ENSP00000358365:S993G;ENSP00000358367:S958G;ENSP00000353078:S985G;ENSP00000353666:S950G	ENSP00000353078:S985G	S	-	1	0	NRAP	115367224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.370000	0.79589	2.371000	0.80710	0.533000	0.62120	AGT		0.423	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		C	115377234	T	C	115377234	3	2	55	1	0	0	0	0	1	0	0	0	10638	1522	53	4	2307	4	NRAP	10	115377234	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	16560269	115377234	20157513	56	2809											
MRPL23	6150	broad.mit.edu	37	11	1972164	1972164	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:1972164G>C	ENST00000397298.3	+	2	138	c.53G>C	c.(52-54)cGg>cCg	p.R18P	MRPL23_ENST00000381519.1_Missense_Mutation_p.R18P|MRPL23_ENST00000486931.1_3'UTR|MRPL23_ENST00000397297.3_Missense_Mutation_p.R18P|MRPL23_ENST00000381514.3_Missense_Mutation_p.R18P|MRPL23_ENST00000397294.3_Missense_Mutation_p.R18P	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	18					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R18P(1)		large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CCACAACTTCGGGTGTTCCGA	0.617																																																1	Substitution - Missense(1)	ovary(1)	11																																								1928740	SO:0001583	missense	6150			AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.53G>C	11.37:g.1972164G>C	ENSP00000380466:p.Arg18Pro		1928740	A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482287	0.63962	.	.	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.26223	2.2;2.2;1.9;1.75;1.9	4.46	2.57	0.30868	Ribosomal protein L23/L15e (1);	0.000000	0.64402	U	0.000001	T	0.52533	0.1740	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55347	-0.8155	10	0.52906	T	0.07	.	10.5318	0.44981	0.1605:0.0:0.8395:0.0	.	18	Q16540	RM23_HUMAN	P	18	ENSP00000380466:R18P;ENSP00000370930:R18P;ENSP00000380465:R18P;ENSP00000370925:R18P;ENSP00000380462:R18P	ENSP00000370925:R18P	R	+	2	0	MRPL23	1928740	1.000000	0.71417	0.315000	0.25238	0.727000	0.41649	7.836000	0.86788	0.445000	0.26639	0.491000	0.48974	CGG		0.617	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		C	1972164	G	C	1972164	3	2	55	1	0	0	0	0	1	0	0	0	9789	1116	39	3	59	3	MRPL23	11	1972164	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08		1972164	133034352	57	2810											
TRIM34	53840	broad.mit.edu	37	11	5653739	5653739	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:5653739G>C	ENST00000514226.1	+	2	515	c.178G>C	c.(178-180)Ggt>Cgt	p.G60R	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.G60R|TRIM34_ENST00000429814.2_Missense_Mutation_p.G60R|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.G414R	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	60					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.G414R(1)|p.G60R(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGTGTGTGGTATCAGTTA	0.512																																																2	Substitution - Missense(2)	ovary(2)	11											142	128	133					11																	5653739		2201	4297	6498	5610315	SO:0001583	missense	53840			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.178G>C	11.37:g.5653739G>C	ENSP00000422947:p.Gly60Arg		5610315	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	5.272	0.235634	0.10023	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	3.26	-1.16	0.09678	Zinc finger, RING/FYVE/PHD-type (1);	0.749095	0.10956	N	0.615493	T	0.33147	0.0853	N	0.00063	-2.32	0.09310	N	1	B;B;B	0.18610	0.001;0.0;0.029	B;B;B	0.17098	0.001;0.001;0.017	T	0.50659	-0.8802	10	0.02654	T	1	.	5.6504	0.17612	0.2102:0.5037:0.286:0.0	.	60;60;414	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	R	414;60;60;60;414	ENSP00000422947:G60R;ENSP00000402595:G60R;ENSP00000395982:G60R;ENSP00000346916:G414R	ENSP00000402595:G60R	G	+	1	0	TRIM34;TRIM6-TRIM34	5610315	0.000000	0.05858	0.012000	0.15200	0.357000	0.29423	-2.012000	0.01451	-0.209000	0.10156	0.555000	0.69702	GGT		0.512	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		C	5653739	G	C	5653739	3	2	55	1	0	0	0	0	1	0	0	0	16508	1348	47	3	180	3	TRIM34	11	5653739	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	3681575	5653739	129352777	58	2811											
OR5P2	120065	broad.mit.edu	37	11	7818266	7818266	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:7818266G>T	ENST00000329434.2	-	1	254	c.224C>A	c.(223-225)cCc>cAc	p.P75H	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P75H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGCATGTTGGGTGTGACAGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											86	105	99					11																	7818266		2097	4292	6389	7774842	SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.224C>A	11.37:g.7818266G>T	ENSP00000331823:p.Pro75His		7774842	Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105354	0.77096	.	.	ENSG00000183303	ENST00000329434	T	0.01871	4.59	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.22126	0.0533	H	0.96015	3.755	0.53005	D	0.999968	D	0.89917	1.0	D	0.87578	0.998	T	0.09378	-1.0677	10	0.87932	D	0	-74.9713	16.9428	0.86222	0.0:0.0:1.0:0.0	.	75	Q8WZ92	OR5P2_HUMAN	H	75	ENSP00000331823:P75H	ENSP00000331823:P75H	P	-	2	0	OR5P2	7774842	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.377000	0.97184	2.868000	0.98415	0.555000	0.69702	CCC		0.438	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		T	7818266	G	T	7818266	3	4	55	1	0	0	0	0	1	0	0	0	11178	1232	43	3	748	3	OR5P2	11	7818266	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	2164527	7818266	127188250	59	2812											
HPS5	11234	broad.mit.edu	37	11	18305396	18305396	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:18305396C>T	ENST00000349215.3	-	21	3281	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	HPS5_ENST00000438420.2_Missense_Mutation_p.A888T|HPS5_ENST00000396253.3_Missense_Mutation_p.A888T|HPS5_ENST00000537258.1_Missense_Mutation_p.A109T|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1002					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.A1002T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGGTGAAGGCCTCTCTTCTT	0.393									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	ovary(1)	11											140	135	137					11																	18305396		2199	4293	6492	18261972	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3004G>A	11.37:g.18305396C>T	ENSP00000265967:p.Ala1002Thr		18261972	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364952	0.95877	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.59906	0.27;0.27;0.23	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75485	-0.3301	10	0.87932	D	0	.	20.3068	0.98634	0.0:1.0:0.0:0.0	.	1002	Q9UPZ3	HPS5_HUMAN	T	888;888;1002;109	ENSP00000379552:A888T;ENSP00000399590:A888T;ENSP00000265967:A1002T	ENSP00000265967:A1002T	A	-	1	0	HPS5	18261972	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.615000	0.61190	2.803000	0.96430	0.591000	0.81541	GCC		0.393	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		T	18305396	C	T	18305396	3	4	55	1	0	0	0	0	1	0	0	0	7342	739	26	2	397	2	HPS5	11	18305396	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	10487130	18305396	116701120	60	2813											
KCNA4	3739	broad.mit.edu	37	11	30034024	30034024	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:30034024G>C	ENST00000328224.6	-	2	1435	c.202C>G	c.(202-204)Cgc>Ggc	p.R68G	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	68					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R68G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CAGGCCCCGCGTGACTGGTGG	0.657																																																1	Substitution - Missense(1)	ovary(1)	11											37	39	38					11																	30034024		1946	4128	6074	29990600	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.202C>G	11.37:g.30034024G>C	ENSP00000328511:p.Arg68Gly		29990600		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979610	0.53827	.	.	ENSG00000182255	ENST00000328224	D	0.97328	-4.34	4.75	4.75	0.60458	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	841.166000	0.00166	N	0.000000	D	0.97309	0.9120	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89804	0.3977	10	0.31617	T	0.26	.	17.7598	0.88461	0.0:0.0:1.0:0.0	.	68	P22459	KCNA4_HUMAN	G	68	ENSP00000328511:R68G	ENSP00000328511:R68G	R	-	1	0	KCNA4	29990600	0.997000	0.39634	0.101000	0.21167	0.514000	0.34195	5.245000	0.65405	2.191000	0.70037	0.491000	0.48974	CGC		0.657	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		C	30034024	G	C	30034024	3	2	55	1	0	0	0	0	1	0	0	0	8005	1145	40	3	1763	3	KCNA4	11	30034024	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	11728628	30034024	104972492	61	2814											
RAG1	5896	broad.mit.edu	37	11	36597760	36597760	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:36597760A>C	ENST00000299440.5	+	2	3018	c.2906A>C	c.(2905-2907)aAa>aCa	p.K969T		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	969					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K969T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCTGGTAACAAACTGTTTAGG	0.463									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											1	Substitution - Missense(1)	ovary(1)	11											98	104	102					11																	36597760		2202	4298	6500	36554336	SO:0001583	missense	5896	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2906A>C	11.37:g.36597760A>C	ENSP00000299440:p.Lys969Thr		36554336	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796342	0.70567	.	.	ENSG00000166349	ENST00000299440	T	0.80909	-1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	L	0.59436	1.845	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	D	0.86789	0.1984	9	.	.	.	.	16.1825	0.81920	1.0:0.0:0.0:0.0	.	969	P15918	RAG1_HUMAN	T	969	ENSP00000299440:K969T	.	K	+	2	0	RAG1	36554336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.281000	0.76405	0.524000	0.50904	AAA		0.463	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		C	36597760	A	C	36597760	3	2	55	1	0	0	0	0	1	0	0	0	13006	14	1	5	2908	5	RAG1	11	36597760	Missense_Mutation	SNP	A	TCGA-09-2050-01A-01W-0799-08	6563736	36597760	98408756	62	2815											
MADD	8567	broad.mit.edu	37	11	47297640	47297643	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	CTTC	CTTC	-	-	CTTC	CTTC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:47297640_47297643delCTTC	ENST00000311027.5	+	4	1015_1018	c.850_853delCTTC	c.(850-855)cttccafs	p.LP284fs	MADD_ENST00000395336.3_Frame_Shift_Del_p.LP284fs|MADD_ENST00000395344.3_Frame_Shift_Del_p.LP284fs|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402799.1_Frame_Shift_Del_p.LP284fs|MADD_ENST00000406482.1_Frame_Shift_Del_p.LP284fs|MADD_ENST00000342922.4_Frame_Shift_Del_p.LP284fs|MADD_ENST00000402192.2_Frame_Shift_Del_p.LP284fs|MADD_ENST00000407859.3_Frame_Shift_Del_p.LP284fs|MADD_ENST00000349238.3_Frame_Shift_Del_p.LP284fs	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.L284fs*8(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GACCTTTGCTCTTCCAGACCCATC	0.554																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								47254219	SO:0001589	frameshift_variant	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.850_853delCTTC	11.37:g.47297640_47297643delCTTC	ENSP00000310933:p.Leu284fs		47254216		Frame_Shift_Del	DEL	ENST00000311027.5	37	CCDS7930.1																																																																																				0.554	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			-	47297643	CTTC	-	47297640	7	5	55	1	0	1	0	1	0	0	0	0	9152	913	32	0	860	0	MADD	11	47297640	Frame_Shift_Del	DEL	CTTC	TCGA-09-2050-01A-01W-0799-08	10699880	47297640	87708876	63	2816											
PRPF19	27339	broad.mit.edu	37	11	60668820	60668820	+	Nonsense_Mutation	SNP	C	C	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:60668820C>A	ENST00000227524.4	-	8	794	c.589G>T	c.(589-591)Gag>Tag	p.E197*		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.E197*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TTCACCAGCTCCTCAGGCACA	0.542																																																1	Substitution - Nonsense(1)	ovary(1)	11											57	55	56					11																	60668820		2203	4299	6502	60425396	SO:0001587	stop_gained	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.589G>T	11.37:g.60668820C>A	ENSP00000227524:p.Glu197*		60425396		Nonsense_Mutation	SNP	ENST00000227524.4	37	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	38	6.689849	0.97764	.	.	ENSG00000110107	ENST00000227524;ENST00000540473;ENST00000541371	.	.	.	5.91	5.91	0.95273	.	0.139654	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-36.9246	19.9089	0.97019	0.0:1.0:0.0:0.0	.	.	.	.	X	197;26;197	.	ENSP00000227524:E197X	E	-	1	0	PRPF19	60425396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.259000	0.78381	2.793000	0.96121	0.655000	0.94253	GAG		0.542	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		A	60668820	C	A	60668820	4	1	55	1	0	0	0	0	0	1	0	0	12567	864	30	3	961	3	PRPF19	11	60668820	Nonsense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	13371180	60668820	74337696	64	2817											
NUMA1	4926	broad.mit.edu	37	11	71724726	71724726	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:71724726C>T	ENST00000393695.3	-	15	4154	c.3823G>A	c.(3823-3825)Gag>Aag	p.E1275K	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1275K	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.E1275K(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGCTGTCTCTGCCTGCAGC	0.637			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	1	Substitution - Missense(1)	ovary(1)	11											35	38	37					11																	71724726		2200	4293	6493	71402374	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3823G>A	11.37:g.71724726C>T	ENSP00000377298:p.Glu1275Lys		71402374		Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532000	0.64972	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.19105	2.17;2.18	5.14	5.14	0.70334	.	0.000000	0.56097	D	0.000031	T	0.44329	0.1288	L	0.53249	1.67	0.47994	D	0.999566	P;D;D;B	0.89917	0.592;1.0;1.0;0.286	B;D;D;B	0.87578	0.169;0.998;0.998;0.169	T	0.32508	-0.9904	10	0.87932	D	0	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	1281;759;1275;1275	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	K	1275;1275;838;244	ENSP00000351851:E1275K;ENSP00000377298:E1275K	ENSP00000351851:E1275K	E	-	1	0	NUMA1	71402374	0.985000	0.35326	0.962000	0.40283	0.922000	0.55478	2.986000	0.49370	2.665000	0.90641	0.655000	0.94253	GAG		0.637	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			T	71724726	C	T	71724726	3	4	55	1	0	0	0	0	1	0	0	0	10750	922	32	2	2576	2	NUMA1	11	71724726	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	11055906	71724726	63281790	65	2818											
NUMA1	4926	broad.mit.edu	37	11	71725594	71725594	+	Silent	SNP	C	C	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:71725594C>A	ENST00000393695.3	-	15	3286	c.2955G>T	c.(2953-2955)cgG>cgT	p.R985R	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.R985R	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.R985R(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGCGCGGCCCGCAGCCGTT	0.687			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	1	Substitution - coding silent(1)	ovary(1)	11											60	67	65					11																	71725594		2199	4290	6489	71403242	SO:0001819	synonymous_variant	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2955G>T	11.37:g.71725594C>A			71403242		Silent	SNP	ENST00000393695.3	37	CCDS31633.1																																																																																				0.687	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			A	71725594	C	A	71725594	2	1	55	1	0	0	0	0	0	0	0	1	10750	610	22	3		3	NUMA1	11	71725594	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08	868	71725594	63280922	66	2819											
OR6X1	390260	broad.mit.edu	37	11	123624729	123624729	+	Silent	SNP	G	G	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:123624729G>A	ENST00000327930.2	-	1	524	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F166F(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TATTGCCACAGAATGGCAACT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	11											93	94	94					11																	123624729		2202	4299	6501	123129939	SO:0001819	synonymous_variant	390260			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.498C>T	11.37:g.123624729G>A			123129939	B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	CCDS31695.1																																																																																				0.512	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		A	123624729	G	A	123624729	2	1	55	1	0	0	0	0	0	0	0	1	11212	933	33	2		2	OR6X1	11	123624729	Silent	SNP	G	TCGA-09-2050-01A-01W-0799-08	51899135	123624729	11381787	67	2820											
PKNOX2	63876	broad.mit.edu	37	11	125300009	125300009	+	Silent	SNP	G	G	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr11:125300009G>A	ENST00000298282.9	+	12	1435	c.1164G>A	c.(1162-1164)caG>caA	p.Q388Q	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.Q324Q	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	388					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.Q388Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGCAGCAGCAGGGCGGTGCCC	0.622																																																1	Substitution - coding silent(1)	ovary(1)	11											45	51	49					11																	125300009		1933	4133	6066	124805219	SO:0001819	synonymous_variant	63876			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1164G>A	11.37:g.125300009G>A			124805219	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	CCDS41730.1																																																																																				0.622	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			A	125300009	G	A	125300009	2	1	55	1	0	0	0	0	0	0	0	1	11983	991	35	2		2	PKNOX2	11	125300009	Silent	SNP	G	TCGA-09-2050-01A-01W-0799-08	1675280	125300009	9706507	68	2821											
CCDC77	84318	broad.mit.edu	37	12	549794	549794	+	Silent	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr12:549794T>C	ENST00000239830.4	+	11	1232	c.1053T>C	c.(1051-1053)gaT>gaC	p.D351D	CCDC77_ENST00000412006.2_Silent_p.D319D|CCDC77_ENST00000422000.1_Silent_p.D319D|CCDC77_ENST00000540180.1_Silent_p.D319D	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	351						centrosome (GO:0005813)|membrane (GO:0016020)		p.D351D(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CCCTAAAAGATAAGTTAGTAC	0.373																																																1	Substitution - coding silent(1)	ovary(1)	12											85	81	82					12																	549794		2203	4300	6503	420055	SO:0001819	synonymous_variant	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1053T>C	12.37:g.549794T>C			420055	B4DDE8	Silent	SNP	ENST00000239830.4	37	CCDS8503.1																																																																																				0.373	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		C	549794	T	C	549794	2	2	55	1	0	0	0	0	0	0	0	1	2851	1403	49	4		4	CCDC77	12	549794	Silent	SNP	T	TCGA-09-2050-01A-01W-0799-08		549794	133302101	69	2822											
WNK1	65125	broad.mit.edu	37	12	977829	977829	+	Intron	SNP	A	A	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr12:977829A>G	ENST00000315939.6	+	9	2782				WNK1_ENST00000530271.2_Silent_p.G1064G|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Silent_p.G278G|WNK1_ENST00000537687.1_Silent_p.G979G	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTCTTCAGGAGAAGGAGGTG	0.443																																					Colon(19;451 567 6672 12618 28860)											0			12											45	45	45					12																	977829		1925	4126	6051	848090	SO:0001627	intron_variant	378465			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2602A>G	12.37:g.977829A>G			848090	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	CCDS8506.1																																																																																				0.443	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		G	977829	A	G	977829	1	3	55	0	1	0	0	0	0	0	0	0	17377	291	11	4		4	WNK1	12	977829	Intron	SNP	A	TCGA-09-2050-01A-01W-0799-08	428035	977829	132874066	70	2823											
KRT78	196374	broad.mit.edu	37	12	53238393	53238393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr12:53238393C>A	ENST00000304620.4	-	5	934	c.871G>T	c.(871-873)Gag>Tag	p.E291*	KRT78_ENST00000359499.4_Nonsense_Mutation_p.E181*	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	291	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E291*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGCGATCTCCTCGTACCGG	0.622																																																1	Substitution - Nonsense(1)	ovary(1)	12											123	93	103					12																	53238393		2203	4300	6503	51524660	SO:0001587	stop_gained	196374			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.871G>T	12.37:g.53238393C>A	ENSP00000306261:p.Glu291*		51524660	A8K4D6|Q5HYM7|Q7RTT2	Nonsense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179570	0.38511	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860;ENST00000547110	.	.	.	5.07	2.17	0.27698	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.8562	0.24042	0.1323:0.6651:0.1282:0.0744	.	.	.	.	X	181;291;62;62	.	ENSP00000306261:E291X	E	-	1	0	KRT78	51524660	0.770000	0.28543	0.104000	0.21259	0.000000	0.00434	0.689000	0.25437	0.647000	0.30713	-1.112000	0.02068	GAG		0.622	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		A	53238393	C	A	53238393	4	1	55	1	0	0	0	0	0	1	0	0	8491	864	30	3	711	3	KRT78	12	53238393	Nonsense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	52260564	53238393	80613502	71	2824											
EP400	57634	broad.mit.edu	37	12	132497562	132497562	+	Silent	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr12:132497562C>T	ENST00000333577.4	+	18	3667	c.3558C>T	c.(3556-3558)gcC>gcT	p.A1186A	EP400_ENST00000332482.4_Silent_p.A1113A|EP400_ENST00000389562.2_Silent_p.A1149A|EP400_ENST00000389561.2_Silent_p.A1150A|EP400_ENST00000330386.6_Silent_p.A1150A			Q96L91	EP400_HUMAN	E1A binding protein p400	1186	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.A1149A(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAGTGGGCCGAACCCAACA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	12											91	73	79					12																	132497562		2203	4300	6503	131063515	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3558C>T	12.37:g.132497562C>T			131063515	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132497562	C	T	132497562	2	4	55	1	0	0	0	0	0	0	0	1	5149	639	23	1		1	EP400	12	132497562	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08	79259169	132497562	1354333	72	2825											
BRCA2	675	broad.mit.edu	37	13	32914137	32914137	+	Nonsense_Mutation	SNP	C	C	A	rs80358785		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr13:32914137C>A	ENST00000380152.3	+	11	5878	c.5645C>A	c.(5644-5646)tCa>tAa	p.S1882*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.S1882*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1882					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S1882*(3)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAGAATAAATCAAAAATTTGC	0.318			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	3	Substitution - Nonsense(3)	endometrium(2)|ovary(1)	13	GRCh37	CM056302|CM980241	BRCA2	M	rs80358785						41	41	41					13																	32914137		2203	4298	6501	31812137	SO:0001587	stop_gained	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5645C>A	13.37:g.32914137C>A	ENSP00000369497:p.Ser1882*		31812137	O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	44	10.652856	0.99445	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.71	5.71	0.89125	.	0.332700	0.26213	N	0.025673	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1143	0.59292	0.0:0.9273:0.0:0.0727	.	.	.	.	X	1882	.	ENSP00000369497:S1882X	S	+	2	0	BRCA2	31812137	0.006000	0.16342	0.011000	0.14972	0.016000	0.09150	1.480000	0.35464	2.712000	0.92718	0.650000	0.86243	TCA		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		A	32914137	C	A	32914137	4	1	55	1	0	0	0	0	0	1	0	0	1499	838	29	3	5683	3	BRCA2	13	32914137	Nonsense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08		32914137	82255741	73	2826											
SLC39A2	29986	broad.mit.edu	37	14	21467686	21467686	+	Silent	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr14:21467686C>T	ENST00000298681.4	+	1	238	c.81C>T	c.(79-81)atC>atT	p.I27I	SLC39A2_ENST00000554422.1_Silent_p.I27I|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	27					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.I27I(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TTACTCCCATCTGCTTCAAAT	0.517																																																1	Substitution - coding silent(1)	ovary(1)	14											178	137	151					14																	21467686		2203	4300	6503	20537526	SO:0001819	synonymous_variant	29986			AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"Solute carriers"	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.81C>T	14.37:g.21467686C>T			20537526	B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Silent	SNP	ENST00000298681.4	37	CCDS9563.1																																																																																				0.517	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		T	21467686	C	T	21467686	2	4	55	1	0	0	0	0	0	0	0	1	14621	903	32	2		2	SLC39A2	14	21467686	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08		21467686	85881854	74	2827											
LRRC16B	90668	broad.mit.edu	37	14	24525902	24525902	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr14:24525902G>C	ENST00000342740.5	+	12	1091	c.937G>C	c.(937-939)Gcc>Ccc	p.A313P	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	313						cytoplasm (GO:0005737)		p.A313P(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCCAAGACTGCCATTTCCCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	14											97	94	95					14																	24525902		2203	4300	6503	23595742	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.937G>C	14.37:g.24525902G>C	ENSP00000340467:p.Ala313Pro		23595742	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302344	0.40694	.	.	ENSG00000186648	ENST00000342740	T	0.53206	0.63	5.78	5.78	0.91487	.	0.059292	0.64402	D	0.000002	T	0.43787	0.1263	L	0.47190	1.495	0.80722	D	1	B	0.15473	0.013	B	0.18263	0.021	T	0.19844	-1.0293	10	0.36615	T	0.2	-20.8686	15.5119	0.75789	0.0:0.0:1.0:0.0	.	313	Q8ND23	LR16B_HUMAN	P	313	ENSP00000340467:A313P	ENSP00000340467:A313P	A	+	1	0	LRRC16B	23595742	0.812000	0.29077	1.000000	0.80357	0.997000	0.91878	1.544000	0.36158	2.744000	0.94065	0.563000	0.77884	GCC		0.602	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		C	24525902	G	C	24525902	3	2	55	1	0	0	0	0	1	0	0	0	8972	1319	46	3	983	3	LRRC16B	14	24525902	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	3058216	24525902	82823638	75	2828											
LRFN5	145581	broad.mit.edu	37	14	42373367	42373367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr14:42373367G>T	ENST00000298119.4	+	6	3338	c.2149G>T	c.(2149-2151)Gag>Tag	p.E717*	LRFN5_ENST00000554171.1_3'UTR|LRFN5_ENST00000554120.1_Missense_Mutation_p.W464C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	717						integral component of membrane (GO:0016021)		p.E717*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		tcAGAGGCTGGAGTTAATCTG	0.323										HNSCC(30;0.082)																																						1	Substitution - Nonsense(1)	ovary(1)	14											55	56	56					14																	42373367		2203	4300	6503	41443117	SO:0001587	stop_gained	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2149G>T	14.37:g.42373367G>T	ENSP00000298119:p.Glu717*		41443117	B3KU78|Q86XL2	Nonsense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.499846|13.499846	0.99746|0.99746	.|.	.|.	ENSG00000165379|ENSG00000165379	ENST00000298119|ENST00000554120	.|T	.|0.50548	.|0.74	5.61|5.61	4.7|4.7	0.59300|0.59300	.|.	1.780830|.	0.04243|.	N|.	0.337292|.	.|T	.|0.52725	.|0.1752	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44050	.|-0.9353	.|5	0.39692|.	T|.	0.17|.	.|.	10.9739|10.9739	0.47454|0.47454	0.0901:0.0:0.9099:0.0|0.0901:0.0:0.9099:0.0	.|.	.|.	.|.	.|.	X|C	717|464	.|ENSP00000451897:W464C	ENSP00000298119:E717X|.	E|W	+|+	1|3	0|0	LRFN5|LRFN5	41443117|41443117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.851000|0.851000	0.48451|0.48451	1.552000|1.552000	0.36244|0.36244	2.804000|2.804000	0.96469|0.96469	0.462000|0.462000	0.41574|0.41574	GAG|TGG		0.323	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42373367	G	T	42373367	4	4	55	1	0	0	0	0	0	1	0	0	8941	1175	41	3	2163	3	LRFN5	14	42373367	Nonsense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	17847465	42373367	64976173	76	2829											
PRPF39	55015	broad.mit.edu	37	14	45583439	45583441	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	TAA	TAA	-	-	TAA	TAA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr14:45583439_45583441delTAA	ENST00000355765.6	+	12	1981_1983	c.1811_1813delTAA	c.(1810-1815)ttaaaa>taa	p.604_605LK>*		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	604					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L483_K484>*(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CAGGATTCTTTAAAAAGGAAAGC	0.335																																																1	Complex - deletion inframe(1)	ovary(1)	14																																								44653191	SO:0001651	inframe_deletion	55015			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1811_1813delTAA	14.37:g.45583439_45583441delTAA	ENSP00000348010:p.Leu604_Lys605delins*		44653189	Q08AL1|Q08AL2|Q9NUU5	In_Frame_Del	DEL	ENST00000355765.6	37	CCDS9682.2																																																																																				0.335	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			-	45583441	TAA	-	45583439	7	5	55	1	0	1	0	1	0	0	0	0	12572	1764	61	0	1853	0	PRPF39	14	45583439	In_Frame_Del	DEL	TAA	TCGA-09-2050-01A-01W-0799-08	3210072	45583439	61766101	77	2830											
GOLGA5	9950	broad.mit.edu	37	14	93282701	93282701	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr14:93282701G>C	ENST00000163416.2	+	7	1682	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	GOLGA5_ENST00000355976.2_Missense_Mutation_p.E476Q	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	476					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.E476Q(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCATGAGAAAGAGATGCAGAG	0.458			T	RET	papillary thyroid																																		Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	1	Substitution - Missense(1)	ovary(1)	14											125	121	123					14																	93282701		2203	4300	6503	92352454	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1426G>C	14.37:g.93282701G>C	ENSP00000163416:p.Glu476Gln		92352454	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625424	0.87560	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.47528	0.84;0.84	5.28	5.28	0.74379	.	0.141724	0.31859	N	0.006954	T	0.52837	0.1759	L	0.44542	1.39	0.58432	D	0.999999	D	0.56287	0.975	P	0.50490	0.642	T	0.53493	-0.8431	10	0.49607	T	0.09	-22.6106	18.9031	0.92451	0.0:0.0:1.0:0.0	.	476	Q8TBA6	GOGA5_HUMAN	Q	476;476;385	ENSP00000163416:E476Q;ENSP00000348252:E476Q	ENSP00000163416:E476Q	E	+	1	0	GOLGA5	92352454	1.000000	0.71417	0.994000	0.49952	0.881000	0.50899	8.929000	0.92859	2.459000	0.83118	0.655000	0.94253	GAG		0.458	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			C	93282701	G	C	93282701	3	2	55	1	0	0	0	0	1	0	0	0	6556	943	33	3	1448	3	GOLGA5	14	93282701	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	47699262	93282701	14066839	78	2831											
TMED3	23423	broad.mit.edu	37	15	79606253	79606253	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr15:79606253C>A	ENST00000299705.5	+	2	511	c.323C>A	c.(322-324)aCc>aAc	p.T108N	TMED3_ENST00000536821.1_Missense_Mutation_p.T108N|TMED3_ENST00000424155.2_Missense_Mutation_p.T108N	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	108	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T108N(1)		large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						GAGTTTTCCACCTTCTCTCAC	0.498																																																1	Substitution - Missense(1)	ovary(1)	15											165	148	154					15																	79606253		2196	4293	6489	77393308	SO:0001583	missense	23423			BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 22", "transmembrane emp24 domain containing 3"	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.323C>A	15.37:g.79606253C>A	ENSP00000299705:p.Thr108Asn		77393308	A8K069|B4DN05|Q2T9F8	Missense_Mutation	SNP	ENST00000299705.5	37	CCDS10310.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621074	0.87460	.	.	ENSG00000166557	ENST00000299705;ENST00000424155;ENST00000536821;ENST00000543455	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.7	4.7	0.59300	GOLD (3);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.989	T	0.61307	-0.7089	10	0.72032	D	0.01	-38.2212	15.505	0.75731	0.0:1.0:0.0:0.0	.	108;108	B4DN05;Q9Y3Q3	.;TMED3_HUMAN	N	108	ENSP00000299705:T108N;ENSP00000414983:T108N;ENSP00000446062:T108N;ENSP00000440228:T108N	ENSP00000299705:T108N	T	+	2	0	TMED3	77393308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.246000	0.78247	2.578000	0.87016	0.655000	0.94253	ACC		0.498	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364		A	79606253	C	A	79606253	3	1	55	1	0	0	0	0	1	0	0	0	16005	507	18	3	329	3	TMED3	15	79606253	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08		79606253	22925139	79	2832											
MPG	4350	broad.mit.edu	37	16	135510	135510	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr16:135510G>T	ENST00000219431.4	+	5	862	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Missense_Mutation_p.D194Y	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	211					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)	p.D211Y(1)		endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGTCCTCAAGGACCGCGAGCT	0.627								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	ovary(1)	16											46	49	48					16																	135510		2203	4300	6503	75510	SO:0001583	missense	4350				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"alkyladenine DNA glycosylase"	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.631G>T	16.37:g.135510G>T	ENSP00000219431:p.Asp211Tyr		75510	G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819717	0.50633	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.2	4.24	0.50183	Formyl transferase, C-terminal-like (1);	0.052654	0.85682	D	0.000000	T	0.42787	0.1218	M	0.83774	2.66	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67548	0.952;0.937	T	0.47573	-0.9107	10	0.72032	D	0.01	-1.2206	13.0129	0.58741	0.0784:0.0:0.9216:0.0	.	206;211	Q5J9I4;P29372	.;3MG_HUMAN	Y	194;194;206;211	ENSP00000388097:D194Y;ENSP00000380918:D194Y;ENSP00000348809:D206Y;ENSP00000219431:D211Y	ENSP00000219431:D211Y	D	+	1	0	MPG	75510	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	7.904000	0.87408	1.184000	0.42957	0.462000	0.41574	GAC		0.627	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			T	135510	G	T	135510	3	4	55	1	0	0	0	0	1	0	0	0	9724	1174	41	3	673	3	MPG	16	135510	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08		135510	90219243	80	2833											
GPR97	222487	broad.mit.edu	37	16	57718387	57718387	+	Silent	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr16:57718387T>C	ENST00000333493.4	+	10	1409	c.1248T>C	c.(1246-1248)tcT>tcC	p.S416S	GPR97_ENST00000327655.6_Silent_p.S206S|GPR97_ENST00000450388.3_Silent_p.S296S|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	416					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S416S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCGCACCTCTCTGGAGCTGT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	16											46	41	42					16																	57718387		2198	4300	6498	56275888	SO:0001819	synonymous_variant	222487			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1248T>C	16.37:g.57718387T>C			56275888	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																				0.632	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		C	57718387	T	C	57718387	2	2	55	1	0	0	0	0	0	0	0	1	6720	1538	54	4		4	GPR97	16	57718387	Silent	SNP	T	TCGA-09-2050-01A-01W-0799-08	57582877	57718387	32636366	81	2834											
CDH5	1003	broad.mit.edu	37	16	66413331	66413331	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr16:66413331G>A	ENST00000341529.3	+	2	239	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	CDH5_ENST00000563425.2_Missense_Mutation_p.A31T	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	31					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.A31T(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TGCTAACCCTGCCCAACGGGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	16											52	56	54					16																	66413331		2202	4300	6502	64970832	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.91G>A	16.37:g.66413331G>A	ENSP00000344115:p.Ala31Thr		64970832	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364196	0.24684	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.55760	0.5	4.38	-3.87	0.04218	.	.	.	.	.	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.21655	-1.0239	9	0.14252	T	0.57	.	1.1093	0.01700	0.396:0.1857:0.2778:0.1405	.	31	P33151	CADH5_HUMAN	T	31	ENSP00000344115:A31T	ENSP00000344115:A31T	A	+	1	0	CDH5	64970832	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	0.098000	0.15189	-0.192000	0.10432	0.462000	0.41574	GCC		0.597	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		A	66413331	G	A	66413331	3	1	55	1	0	0	0	0	1	0	0	0	3113	1319	46	2	93	2	CDH5	16	66413331	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	8694944	66413331	23941422	82	2835											
COG8	84342	broad.mit.edu	37	16	69373397	69373397	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr16:69373397T>A	ENST00000306875.4	-	1	173	c.59A>T	c.(58-60)gAg>gTg	p.E20V	RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000562081.1_Missense_Mutation_p.E20V|NIP7_ENST00000254941.6_5'Flank|NIP7_ENST00000569637.2_5'Flank|NIP7_ENST00000254940.5_5'UTR	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	20					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.E20V(1)		breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						ATCCTCCACCTCGCCGAGAGC	0.687																																																1	Substitution - Missense(1)	ovary(1)	16											14	14	14					16																	69373397		2175	4277	6452	67930898	SO:0001583	missense	84342			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.59A>T	16.37:g.69373397T>A	ENSP00000305459:p.Glu20Val		67930898	Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884936	0.51908	.	.	ENSG00000213380	ENST00000306875	T	0.50277	0.75	5.23	5.23	0.72850	.	0.155636	0.56097	D	0.000024	T	0.37461	0.1004	L	0.51422	1.61	0.80722	D	1	B;B	0.31125	0.309;0.22	B;B	0.25140	0.039;0.058	T	0.42413	-0.9453	10	0.87932	D	0	-7.0053	6.0555	0.19809	0.1466:0.079:0.0:0.7744	.	47;20	B4DYU2;Q96MW5	.;COG8_HUMAN	V	20	ENSP00000305459:E20V	ENSP00000305459:E20V	E	-	2	0	COG8	67930898	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	4.181000	0.58303	2.212000	0.71576	0.374000	0.22700	GAG		0.687	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		A	69373397	T	A	69373397	3	1	55	1	0	0	0	0	1	0	0	0	3664	1551	54	5	1799	5	COG8	16	69373397	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	2960066	69373397	20981356	83	2836											
TAF1C	9013	broad.mit.edu	37	16	84213193	84213193	+	Missense_Mutation	SNP	G	G	A	rs147204923		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr16:84213193G>A	ENST00000567759.1	-	14	2146	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	TAF1C_ENST00000570117.1_Missense_Mutation_p.A323V|TAF1C_ENST00000378541.4_Missense_Mutation_p.A655V|TAF1C_ENST00000566732.1_Missense_Mutation_p.A629V|TAF1C_ENST00000341690.6_Missense_Mutation_p.A561V|TAF1C_ENST00000541676.1_Missense_Mutation_p.A562V	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	655					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.A655V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GAAGGTGGGTGCTGTCCACAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	16											26	28	27					16																	84213193		2200	4298	6498	82770694	SO:0001583	missense	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1964C>T	16.37:g.84213193G>A	ENSP00000455265:p.Ala655Val		82770694	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.25	1.582552	0.28180	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.04317	3.74;3.65;3.65	4.95	1.92	0.25849	.	0.494210	0.17937	N	0.156970	T	0.15176	0.0366	M	0.68317	2.08	0.09310	N	0.999999	D;D;D;D	0.89917	0.999;0.999;1.0;0.996	D;D;D;D	0.85130	0.996;0.996;0.997;0.99	T	0.04347	-1.0958	10	0.56958	D	0.05	-1.8941	6.9279	0.24426	0.2941:0.0:0.7059:0.0	.	629;178;655;561	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	V	655;562;561;178	ENSP00000367802:A655V;ENSP00000437900:A562V;ENSP00000345305:A561V	ENSP00000345305:A561V	A	-	2	0	TAF1C	82770694	0.534000	0.26362	0.106000	0.21319	0.012000	0.07955	1.710000	0.37920	0.148000	0.19059	-0.258000	0.10820	GCA		0.667	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		A	84213193	G	A	84213193	3	1	55	1	0	0	0	0	1	0	0	0	15521	1319	46	2	649	2	TAF1C	16	84213193	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	14839796	84213193	6141560	84	2837											
PLD2	5338	broad.mit.edu	37	17	4711106	4711106	+	Silent	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr17:4711106C>T	ENST00000263088.6	+	2	170	c.39C>T	c.(37-39)gaC>gaT	p.D13D	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Silent_p.D13D	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	13					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.D13D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCACTGGGGACGAACTGGACT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	17											53	54	54					17																	4711106		2203	4300	6503	4658070	SO:0001819	synonymous_variant	5338			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.39C>T	17.37:g.4711106C>T			4658070	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	CCDS11057.1																																																																																				0.627	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		T	4711106	C	T	4711106	2	4	55	1	0	0	0	0	0	0	0	1	12046	535	19	1		1	PLD2	17	4711106	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08		4711106	76484104	85	2838											
ZBTB4	57659	broad.mit.edu	37	17	7366384	7366384	+	Silent	SNP	G	G	A	rs537131535		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr17:7366384G>A	ENST00000311403.4	-	4	2256	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	ZBTB4_ENST00000380599.4_Silent_p.D639D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	639	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.D639D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		cctcctcttcgtcctcctcac	0.602													G|||	1	0.000199681	0	0	5008	,	,		16945	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	17											59	40	46					17																	7366384		2203	4300	6503	7307108	SO:0001819	synonymous_variant	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1917C>T	17.37:g.7366384G>A			7307108	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	CCDS11107.1																																																																																				0.602	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		A	7366384	G	A	7366384	2	1	55	1	0	0	0	0	0	0	0	1	17541	1136	40	1		1	ZBTB4	17	7366384	Silent	SNP	G	TCGA-09-2050-01A-01W-0799-08	2655278	7366384	73828826	86	2839											
TP53	7157	broad.mit.edu	37	17	7577511	7577511	+	Missense_Mutation	SNP	A	A	T	rs28934577		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr17:7577511A>T	ENST00000269305.4	-	7	959	c.770T>A	c.(769-771)cTg>cAg	p.L257Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.L257Q|TP53_ENST00000455263.2_Missense_Mutation_p.L257Q|TP53_ENST00000359597.4_Missense_Mutation_p.L257Q|TP53_ENST00000420246.2_Missense_Mutation_p.L257Q|TP53_ENST00000413465.2_Missense_Mutation_p.L257Q	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	257	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> P (in sporadic cancers; somatic mutation).|L -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934577).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L257Q(8)|p.L257P(8)|p.L257fs*6(2)|p.?(1)|p.T256fs*87(1)|p.L257R(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)	GGAGTCTTCCAGTGTGATGAT	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	29	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	large_intestine(4)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|central_nervous_system(2)|liver(2)|upper_aerodigestive_tract(1)|stomach(1)|biliary_tract(1)|kidney(1)|breast(1)|skin(1)|pancreas(1)	17	GRCh37	CD941800|CM941332	TP53	D|M	rs28934577						139	99	113					17																	7577511		2203	4300	6503	7518236	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.770T>A	17.37:g.7577511A>T	ENSP00000269305:p.Leu257Gln		7518236	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	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019080	0.54576	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99905	-7.7;-7.7;-7.7;-7.7;-7.7;-7.7;-7.7	4.62	3.53	0.40419	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99891	0.9948	M	0.88640	2.97	0.58432	A	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.999;0.998;1.0	D	0.96301	0.9221	9	0.87932	D	0	-7.3975	9.0966	0.36642	0.8362:0.0:0.0:0.1638	rs28934577	257;257;257;257;257	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	Q	257;257;257;257;257;257;246;125	ENSP00000410739:L257Q;ENSP00000352610:L257Q;ENSP00000269305:L257Q;ENSP00000398846:L257Q;ENSP00000391127:L257Q;ENSP00000391478:L257Q;ENSP00000425104:L125Q	ENSP00000269305:L257Q	L	-	2	0	TP53	7518236	1.000000	0.71417	0.981000	0.43875	0.405000	0.30901	9.087000	0.94110	0.889000	0.36185	0.379000	0.24179	CTG		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577511	A	T	7577511	3	4	55	1	0	0	0	0	1	0	0	0	16381	188	7	5	520	5	TP53	17	7577511	Missense_Mutation	SNP	A	TCGA-09-2050-01A-01W-0799-08	211127	7577511	73617699	87	2840											
MYH2	4620	broad.mit.edu	37	17	10442604	10442604	+	Missense_Mutation	SNP	C	C	T	rs201040489		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr17:10442604C>T	ENST00000245503.5	-	14	1718	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	MYH2_ENST00000532183.2_Missense_Mutation_p.R445H|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R445H|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	445	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R445H(3)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGGTTGATGCGGGCAACCAT	0.473													C|||	1	0.000199681	0	0	5008	,	,		18714	0.001		0	False		,,,				2504	0															3	Substitution - Missense(3)	biliary_tract(1)|ovary(1)|breast(1)	17						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	172	166	168		1334,1334	5.4	1	17		168	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MYH2	NM_001100112.1,NM_017534.5	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	445/1942,445/1942	10442604	2,13004	2203	4300	6503	10383329	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1334G>A	17.37:g.10442604C>T	ENSP00000245503:p.Arg445His		10383329	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	35	5.437302	0.96168	0.0	2.33E-4	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.88741	-2.42;-2.42;-2.42	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.000000	0.40144	U	0.001168	D	0.95796	0.8632	M	0.91561	3.22	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.985	D	0.96516	0.9382	10	0.87932	D	0	.	18.2166	0.89887	0.0:1.0:0.0:0.0	.	445;445	Q567P6;Q9UKX2	.;MYH2_HUMAN	H	445	ENSP00000433944:R445H;ENSP00000245503:R445H;ENSP00000380367:R445H	ENSP00000245503:R445H	R	-	2	0	MYH2	10383329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.547000	0.85894	0.585000	0.79938	CGC		0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10442604	C	T	10442604	3	4	55	1	0	0	0	0	1	0	0	0	10035	768	27	1	4599	1	MYH2	17	10442604	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	2865093	10442604	70752606	88	2841											
GPR179	440435	broad.mit.edu	37	17	36483547	36483572	+	Frame_Shift_Del	DEL	CGGAATCTGCTGGGGCAGTGGTCTCC	CGGAATCTGCTGGGGCAGTGGTCTCC	-	rs144104172|rs536693144	byFrequency	TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	CGGAATCTGCTGGGGCAGTGGTCTCC	CGGAATCTGCTGGGGCAGTGGTCTCC	-	-	CGGAATCTGCTGGGGCAGTGGTCTCC	CGGAATCTGCTGGGGCAGTGGTCTCC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr17:36483547_36483572delCGGAATCTGCTGGGGCAGTGGTCTCC	ENST00000342292.4	-	11	5900_5925	c.5880_5905delGGAGACCACTGCCCCAGCAGATTCCG	c.(5878-5907)tgggagaccactgccccagcagattccgtcfs	p.WETTAPADSV1960fs	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1960					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W1960fs*10(1)|p.T1963N(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGGTGAGAGACGGAATCTGCTGGGGCAGTGGTCTCCCATGGACAGA	0.54																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	upper_aerodigestive_tract(1)|ovary(1)	17																																								33737098	SO:0001589	frameshift_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5880_5905delGGAGACCACTGCCCCAGCAGATTCCG	17.37:g.36483547_36483572delCGGAATCTGCTGGGGCAGTGGTCTCC	ENSP00000345060:p.Trp1960fs		33737073		Frame_Shift_Del	DEL	ENST00000342292.4	37	CCDS42308.1																																																																																				0.54	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			-	36483572	CGGAATCTGCTGGGGCAGTGGTCTCC	-	36483547	7	5	55	1	0	1	0	1	0	0	0	0	6674	536	19	0	1202	0	GPR179	17	36483547	Frame_Shift_Del	DEL	CGGAATCTGCTGGGGCAGTGGTCTCC	TCGA-09-2050-01A-01W-0799-08	26040943	36483547	44711663	89	2842											
SGCA	6442	broad.mit.edu	37	17	48245919	48245919	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr17:48245919G>C	ENST00000262018.3	+	5	606	c.570G>C	c.(568-570)gaG>gaC	p.E190D	HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Missense_Mutation_p.E190D|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000344627.6_Missense_Mutation_p.E190D|SGCA_ENST00000451235.2_Missense_Mutation_p.E88D	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	190					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.E190D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TTCCCATTGAGGGCCGAAAAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	17											22	23	23					17																	48245919		2197	4295	6492	45600918	SO:0001583	missense	6442			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.570G>C	17.37:g.48245919G>C	ENSP00000262018:p.Glu190Asp		45600918	A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	CCDS32679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.90|13.90	2.373909|2.373909	0.42105|0.42105	.|.	.|.	ENSG00000108823|ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315;ENST00000451235;ENST00000511303|ENST00000504073	D;D;D;D;D|.	0.97710|.	-4.5;-4.5;-4.5;-4.5;-4.5|.	4.58|4.58	0.227|0.227	0.15359|0.15359	.|.	0.313613|.	0.28425|.	N|.	0.015385|.	T|T	0.45558|0.45558	0.1348|0.1348	L|L	0.54323|0.54323	1.7|1.7	0.30378|0.30378	N|N	0.782263|0.782263	P;D;P|.	0.58620|.	0.912;0.983;0.549|.	P;P;P|.	0.53102|.	0.672;0.718;0.5|.	T|T	0.48479|0.48479	-0.9032|-0.9032	10|5	0.16896|.	T|.	0.51|.	-6.7071|-6.7071	7.6175|7.6175	0.28167|0.28167	0.485:0.0:0.515:0.0|0.485:0.0:0.515:0.0	.|.	88;190;190|.	B7Z1L1;Q16586-2;Q16586|.	.;.;SGCA_HUMAN|.	D|R	190;190;190;88;97|13	ENSP00000345522:E190D;ENSP00000262018:E190D;ENSP00000444539:E190D;ENSP00000390371:E88D;ENSP00000426104:E97D|.	ENSP00000262018:E190D|.	E|G	+|+	3|1	2|0	SGCA|SGCA	45600918|45600918	0.916000|0.916000	0.31088|0.31088	0.954000|0.954000	0.39281|0.39281	0.783000|0.783000	0.44284|0.44284	0.008000|0.008000	0.13197|0.13197	0.130000|0.130000	0.18549|0.18549	0.462000|0.462000	0.41574|0.41574	GAG|GGG		0.597	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		C	48245919	G	C	48245919	3	2	55	1	0	0	0	0	1	0	0	0	14202	991	35	3	588	3	SGCA	17	48245919	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	11762372	48245919	32949291	90	2843											
SLC25A23	79085	broad.mit.edu	37	19	6454349	6454349	+	Missense_Mutation	SNP	G	G	T	rs192489049		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr19:6454349G>T	ENST00000301454.4	-	6	886	c.780C>A	c.(778-780)ttC>ttA	p.F260L	SLC25A23_ENST00000414491.2_Missense_Mutation_p.F77L|SLC25A23_ENST00000334510.5_Missense_Mutation_p.F260L	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	260					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.F260L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CATAGGCCATGAACTTGATAG	0.547													G|||	1	0.000199681	0	0.0014	5008	,	,		21400	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19											132	129	130					19																	6454349		2203	4300	6503	6405349	SO:0001583	missense	79085			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.780C>A	19.37:g.6454349G>T	ENSP00000301454:p.Phe260Leu		6405349	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	CCDS32882.1	4	0.0018315018315018315	1	0.0020325203252032522	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	G	21.8	4.208727	0.79240	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000414491;ENST00000334510	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.79	4.75	0.60458	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.84511	2.7	0.58432	D	0.999999	D;D	0.60575	0.988;0.975	D;P	0.67382	0.951;0.883	D	0.90209	0.4263	10	0.87932	D	0	-34.024	14.2557	0.66051	0.0746:0.0:0.9254:0.0	.	77;260	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	L	307;260;77;260	ENSP00000264088:F307L;ENSP00000301454:F260L;ENSP00000408814:F77L;ENSP00000334537:F260L	ENSP00000264088:F307L	F	-	3	2	SLC25A23	6405349	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.481000	0.60250	2.748000	0.94277	0.655000	0.94253	TTC		0.547	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		T	6454349	G	T	6454349	3	4	55	1	0	0	0	0	1	0	0	0	14489	1281	45	3	646	3	SLC25A23	19	6454349	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08		6454349	52674634	91	2844											
OR7D4	125958	broad.mit.edu	37	19	9325271	9325271	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr19:9325271C>T	ENST00000308682.2	-	1	271	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M81I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGCTCACTAGCATCTTGGGGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											80	73	75					19																	9325271		2203	4300	6503	9186271	SO:0001583	missense	125958				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.243G>A	19.37:g.9325271C>T	ENSP00000310488:p.Met81Ile		9186271	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	4.701	0.130277	0.08981	.	.	ENSG00000174667	ENST00000308682	T	0.05513	3.43	3.86	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.10121	0.0248	M	0.85099	2.735	0.09310	N	0.999999	B	0.22851	0.076	B	0.27608	0.081	T	0.27971	-1.0058	10	0.62326	D	0.03	.	2.8288	0.05494	0.1818:0.5367:0.177:0.1045	.	81	Q8NG98	OR7D4_HUMAN	I	81	ENSP00000310488:M81I	ENSP00000310488:M81I	M	-	3	0	OR7D4	9186271	0.176000	0.23096	0.098000	0.21074	0.010000	0.07245	0.269000	0.18589	0.988000	0.38734	0.436000	0.28706	ATG		0.498	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			T	9325271	C	T	9325271	3	4	55	1	0	0	0	0	1	0	0	0	11220	710	25	2	699	2	OR7D4	19	9325271	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	2870922	9325271	49803712	92	2845											
BST2	684	broad.mit.edu	37	19	17515202	17515202	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr19:17515202T>G	ENST00000252593.6	-	2	402	c.330A>C	c.(328-330)caA>caC	p.Q110H	CTD-2521M24.9_ENST00000500836.2_lincRNA|BST2_ENST00000527220.1_Intron	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	110					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.Q110H(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						CCACTTTCTTTTGTCCTTGGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											109	112	111					19																	17515202		2203	4300	6503	17376202	SO:0001583	missense	684				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"CD molecules"	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.330A>C	19.37:g.17515202T>G	ENSP00000252593:p.Gln110His		17376202	A8K4Y4|Q53G07	Missense_Mutation	SNP	ENST00000252593.6	37	CCDS12358.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435452	0.25813	.	.	ENSG00000130303	ENST00000416178;ENST00000252593	T	0.78924	-1.22	2.29	-3.93	0.04143	.	.	.	.	.	T	0.53481	0.1799	N	0.19112	0.55	0.09310	N	1	P	0.45594	0.862	B	0.36092	0.217	T	0.51458	-0.8703	9	0.72032	D	0.01	-2.8422	3.3935	0.07298	0.0:0.3425:0.2117:0.4458	.	110	Q10589	BST2_HUMAN	H	110	ENSP00000252593:Q110H	ENSP00000252593:Q110H	Q	-	3	2	BST2	17376202	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.424000	0.07025	-0.591000	0.05859	-0.608000	0.04076	CAA		0.592	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	NM_004335		G	17515202	T	G	17515202	3	3	55	1	0	0	0	0	1	0	0	0	1534	1838	64	5	224	5	BST2	19	17515202	Missense_Mutation	SNP	T	TCGA-09-2050-01A-01W-0799-08	8189931	17515202	41613781	93	2846											
CD22	933	broad.mit.edu	37	19	35828898	35828898	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr19:35828898C>T	ENST00000085219.5	+	5	1025	c.959C>T	c.(958-960)tCg>tTg	p.S320L	CD22_ENST00000594250.1_Intron|CD22_ENST00000341773.6_Intron|CD22_ENST00000536635.2_Missense_Mutation_p.S320L|CD22_ENST00000270311.6_Missense_Mutation_p.S200L|CD22_ENST00000419549.2_Missense_Mutation_p.S148L|CD22_ENST00000544992.2_Missense_Mutation_p.S320L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	320	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.S320L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGGGAAGGTCGGAAGAAGTG	0.612																																					Ovarian(42;1009 1133 23674 26041)											1	Substitution - Missense(1)	ovary(1)	19											86	59	68					19																	35828898		2203	4300	6503	40520738	SO:0001583	missense	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.959C>T	19.37:g.35828898C>T	ENSP00000085219:p.Ser320Leu		40520738	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684301	0.68157	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	4.81	4.81	0.61882	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000428	T	0.50137	0.1598	M	0.86502	2.82	0.09310	N	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;0.999;1.0	T	0.48328	-0.9045	10	0.45353	T	0.12	.	13.3983	0.60868	0.0:1.0:0.0:0.0	.	148;320;320;320	Q32M46;F5GYU4;F5H7U3;P20273	.;.;.;CD22_HUMAN	L	320;320;320;200;148	ENSP00000085219:S320L;ENSP00000442279:S320L;ENSP00000441237:S320L;ENSP00000270311:S200L;ENSP00000403822:S148L	ENSP00000085219:S320L	S	+	2	0	CD22	40520738	0.868000	0.29978	0.034000	0.17996	0.002000	0.02628	3.790000	0.55461	2.225000	0.72522	0.467000	0.42956	TCG		0.612	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		T	35828898	C	T	35828898	3	4	55	1	0	0	0	0	1	0	0	0	2985	893	31	1	973	1	CD22	19	35828898	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	18313696	35828898	23300085	94	2847											
CD22	933	broad.mit.edu	37	19	35836609	35836609	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr19:35836609C>G	ENST00000085219.5	+	12	2379	c.2313C>G	c.(2311-2313)aaC>aaG	p.N771K	CD22_ENST00000594250.1_Missense_Mutation_p.N594K|CD22_ENST00000341773.6_Missense_Mutation_p.N594K|CD22_ENST00000536635.2_Missense_Mutation_p.N683K|CD22_ENST00000270311.6_Intron|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000419549.2_Missense_Mutation_p.N599K|CD22_ENST00000544992.2_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	771					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.N771K(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGAGATGAACATACCACGAA	0.602																																					Ovarian(42;1009 1133 23674 26041)											1	Substitution - Missense(1)	ovary(1)	19											142	125	131					19																	35836609		2203	4300	6503	40528449	SO:0001583	missense	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2313C>G	19.37:g.35836609C>G	ENSP00000085219:p.Asn771Lys		40528449	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422215	0.25639	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000419549	T;T;T;T	0.53423	1.07;0.68;0.62;1.15	4.01	-1.15	0.09709	.	0.644446	0.13733	N	0.366521	T	0.34745	0.0908	L	0.36672	1.1	0.09310	N	1	B;P;B;D	0.56035	0.255;0.628;0.255;0.974	B;B;B;P	0.51415	0.024;0.184;0.053;0.669	T	0.31779	-0.9931	10	0.07813	T	0.8	.	3.0524	0.06173	0.1903:0.4757:0.0:0.334	.	599;683;771;594	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	K	771;683;594;599	ENSP00000085219:N771K;ENSP00000442279:N683K;ENSP00000339349:N594K;ENSP00000403822:N599K	ENSP00000085219:N771K	N	+	3	2	CD22	40528449	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.078000	0.11375	0.104000	0.17725	-0.448000	0.05591	AAC		0.602	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		G	35836609	C	G	35836609	3	3	55	1	0	0	0	0	1	0	0	0	2985	477	17	3	2355	3	CD22	19	35836609	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	7711	35836609	23292374	95	2848											
ZFP112	7771	broad.mit.edu	37	19	44831844	44831844	+	Silent	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr19:44831844T>C	ENST00000337401.4	-	5	2572	c.2484A>G	c.(2482-2484)acA>acG	p.T828T	ZNF112_ENST00000536500.1_Silent_p.T845T|ZNF112_ENST00000354340.4_Silent_p.T822T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	828					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T822T(1)									GTTTCTCTCCTGTGTGGACTC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	19											148	146	147					19																	44831844		2203	4300	6503	49523684	SO:0001819	synonymous_variant	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2484A>G	19.37:g.44831844T>C			49523684	A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	CCDS54276.1																																																																																				0.463	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		C	44831844	T	C	44831844	2	2	55	1	0	0	0	0	0	0	0	1	17638	1567	55	4		4	ZFP112	19	44831844	Silent	SNP	T	TCGA-09-2050-01A-01W-0799-08	8995235	44831844	14297139	96	2849											
GRIN2D	2906	broad.mit.edu	37	19	48917363	48917363	+	Splice_Site	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr19:48917363G>C	ENST00000263269.3	+	4	1288		c.e4+1			NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D						adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.?(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTGGGAGGTGGTGAGTCGTAG	0.612																																																1	Unknown(1)	ovary(1)	19											58	46	50					19																	48917363		2203	4300	6503	53609175	SO:0001630	splice_region_variant	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1200+1G>C	19.37:g.48917363G>C			53609175		Splice_Site	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172639	0.78452	.	.	ENSG00000105464	ENST00000263269	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8721	0.79129	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIN2D	53609175	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.358000	0.97109	2.363000	0.80096	0.561000	0.74099	.		0.612	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		Intron	C	48917363	G	C	48917363	5	2	55	1	0	0	0	0	0	0	1	0	6782	1275	44	3	1211	3	GRIN2D	19	48917363	Splice_Site	SNP	G	TCGA-09-2050-01A-01W-0799-08	4085519	48917363	10211620	97	2850											
TGM3	7053	broad.mit.edu	37	20	2320586	2320605	+	Frame_Shift_Del	DEL	GCTGATGGTGGAGGGAAGCG	GCTGATGGTGGAGGGAAGCG	-	rs367606978		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	GCTGATGGTGGAGGGAAGCG	GCTGATGGTGGAGGGAAGCG	-	-	GCTGATGGTGGAGGGAAGCG	GCTGATGGTGGAGGGAAGCG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr20:2320586_2320605delGCTGATGGTGGAGGGAAGCG	ENST00000381458.5	+	12	1950_1969	c.1887_1906delGCTGATGGTGGAGGGAAGCG	c.(1885-1908)gtgctgatggtggagggaagcggcfs	p.LMVEGSG630fs		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	630					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.L630fs*5(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGGACTGCGTGCTGATGGTGGAGGGAAGCGGCCTGCTGTT	0.645																																																1	Deletion - Frameshift(1)	ovary(1)	20																																								2268605	SO:0001589	frameshift_variant	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1887_1906delGCTGATGGTGGAGGGAAGCG	20.37:g.2320586_2320605delGCTGATGGTGGAGGGAAGCG	ENSP00000370867:p.Leu630fs		2268586	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Frame_Shift_Del	DEL	ENST00000381458.5	37	CCDS33435.1																																																																																				0.645	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		-	2320605	GCTGATGGTGGAGGGAAGCG	-	2320586	7	5	55	1	0	1	0	1	0	0	0	0	15831	1306	46	0	1933	0	TGM3	20	2320586	Frame_Shift_Del	DEL	GCTGATGGTGGAGGGAAGCG	TCGA-09-2050-01A-01W-0799-08		2320586	60704934	98	2851											
C20orf12	55184	broad.mit.edu	37	20	18429628	18429628	+	Splice_Site	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr20:18429628T>C	ENST00000358866.6	-	6	651	c.629A>G	c.(628-630)aAg>aGg	p.K210R	DZANK1_ENST00000357236.4_Splice_Site_p.K96R|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Splice_Site_p.K212R|DZANK1_ENST00000262547.5_Splice_Site_p.K210R			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	210							zinc ion binding (GO:0008270)	p.K210R(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TGATACTTACTTGAGAAAGTC	0.383																																																1	Substitution - Missense(1)	ovary(1)	20											118	113	114					20																	18429628		1875	4108	5983	18377628	SO:0001630	splice_region_variant	55184			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"Ankyrin repeat domain containing"	15858	protein-coding gene	gene with protein product	"ankyrin repeat domain 64"		"chromosome 20 open reading frame 12"	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.629+1A>G	20.37:g.18429628T>C			18377628	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.87|10.87	1.473605|1.473605	0.26423|0.26423	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236|ENST00000358866	T;T;T;T|.	0.53640|.	0.61;0.61;0.61;0.61|.	5.0|5.0	2.71|2.71	0.32032|0.32032	.|.	0.310718|.	0.39274|.	N|.	0.001420|.	T|T	0.43077|0.43077	0.1231|0.1231	L|L	0.31664|0.31664	0.95|0.95	0.36648|0.36648	D|D	0.87725|0.87725	P;P;B|.	0.46912|.	0.818;0.886;0.438|.	B;B;B|.	0.44085|.	0.255;0.44;0.34|.	T|T	0.37174|0.37174	-0.9717|-0.9717	9|5	.|.	.|.	.|.	-12.4125|-12.4125	8.1553|8.1553	0.31165|0.31165	0.0:0.1664:0.0:0.8336|0.0:0.1664:0.0:0.8336	.|.	229;96;210|.	B7Z631;Q9NVP4-4;Q9NVP4|.	.;.;DZAN1_HUMAN|.	R|G	37;210;212;36;36;96|9	ENSP00000366857:K37R;ENSP00000262547:K210R;ENSP00000328866:K212R;ENSP00000349774:K96R|.	.|.	K|S	-|-	2|1	0|0	C20orf12|C20orf12	18377628|18377628	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.282000|0.282000	0.26991|0.26991	1.432000|1.432000	0.34936|0.34936	0.326000|0.326000	0.23384|0.23384	-0.924000|-0.924000	0.02725|0.02725	AAG|AGT		0.383	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	Missense_Mutation	C	18429628	T	C	18429628	5	2	55	1	0	0	0	0	0	0	1	0	2085	1623	56	4	1689	4	C20orf12	20	18429628	Splice_Site	SNP	T	TCGA-09-2050-01A-01W-0799-08	16109042	18429628	44595892	99	2852											
BPIL1	80341	broad.mit.edu	37	20	31600702	31600702	+	Missense_Mutation	SNP	C	C	G	rs540459199		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr20:31600702C>G	ENST00000170150.3	+	4	492	c.297C>G	c.(295-297)ttC>ttG	p.F99L		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	99						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.F99L(1)									ATTTTACTTTCAAGGTCTTTC	0.557																																																1	Substitution - Missense(1)	ovary(1)	20											118	114	115					20																	31600702		2203	4300	6503	31064363	SO:0001583	missense	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.297C>G	20.37:g.31600702C>G	ENSP00000170150:p.Phe99Leu		31064363	Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.866157	0.00547	.	.	ENSG00000078898	ENST00000170150	T	0.03982	3.74	3.94	0.966	0.19667	.	0.423546	0.20139	N	0.098416	T	0.03095	0.0091	N	0.20986	0.625	0.80722	D	1	B	0.14438	0.01	B	0.16289	0.015	T	0.49093	-0.8975	10	0.25751	T	0.34	-11.4731	6.1637	0.20378	0.0:0.6774:0.0:0.3226	.	99	Q8N4F0	BPIB2_HUMAN	L	99	ENSP00000170150:F99L	ENSP00000170150:F99L	F	+	3	2	BPIFB2	31064363	0.040000	0.19996	0.915000	0.36163	0.125000	0.20455	0.390000	0.20768	0.257000	0.21650	-0.766000	0.03442	TTC		0.557	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		G	31600702	C	G	31600702	3	3	55	1	0	0	0	0	1	0	0	0	1491	825	29	3	307	3	BPIL1	20	31600702	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	13171074	31600702	31424818	100	2853											
SLC7A4	6545	broad.mit.edu	37	22	21384504	21384504	+	Silent	SNP	C	C	G	rs151143122		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chr22:21384504C>G	ENST00000382932.2	-	3	1186	c.1119G>C	c.(1117-1119)gcG>gcC	p.A373A	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.A373A	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	373					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.A373A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAGCCCGAACGCCAGGGTGC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	22											32	36	35					22																	21384504		2203	4300	6503	19714504	SO:0001819	synonymous_variant	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1119G>C	22.37:g.21384504C>G			19714504	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	CCDS33608.1																																																																																				0.637	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		G	21384504	C	G	21384504	2	3	55	1	0	0	0	0	0	0	0	1	14702	523	19	3		3	SLC7A4	22	21384504	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08		21384504	29920062	101	2854											
WWC3	55841	broad.mit.edu	37	X	10062214	10062214	+	Missense_Mutation	SNP	G	G	A	rs367881383		TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:10062214G>A	ENST00000380861.4	+	7	941	c.550G>A	c.(550-552)Gtt>Att	p.V184I	WWC3_ENST00000454666.1_Missense_Mutation_p.V184I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	184					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.V184I(2)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CAGCTGCTCCGTTACCGACTC	0.547																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	X											164	144	151					X																	10062214		2203	4300	6503	10022214	SO:0001583	missense	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.550G>A	X.37:g.10062214G>A	ENSP00000370242:p.Val184Ile		10022214	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	1.796	-0.478211	0.04414	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.04194	3.68;3.68	5.83	0.919	0.19392	.	0.332623	0.33959	N	0.004395	T	0.01189	0.0039	N	0.00182	-1.905	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47484	-0.9114	10	0.34782	T	0.22	-7.1444	8.9308	0.35668	0.4238:0.4907:0.0854:0.0	.	184	Q9ULE0	WWC3_HUMAN	I	184	ENSP00000370242:V184I;ENSP00000399584:V184I	ENSP00000370242:V184I	V	+	1	0	WWC3	10022214	0.442000	0.25633	0.002000	0.10522	0.063000	0.16089	0.697000	0.25556	-0.145000	0.11294	-0.380000	0.06706	GTT		0.547	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		A	10062214	G	A	10062214	3	1	55	1	0	0	0	0	1	0	0	0	17413	1145	40	1	572	1	WWC3	23	10062214	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08		10062214	145208346	102	2855											
ELK1	2002	broad.mit.edu	37	X	47498652	47498652	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:47498652C>A	ENST00000247161.3	-	3	395	c.296G>T	c.(295-297)tGc>tTc	p.C99F	ELK1_ENST00000592066.1_Missense_Mutation_p.C45F|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.C99F	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	99					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C99F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CTGGGGCGGGCAGTCCTCAGT	0.597																																																1	Substitution - Missense(1)	ovary(1)	X											31	24	26					X																	47498652		2203	4300	6503	47383596	SO:0001583	missense	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.296G>T	X.37:g.47498652C>A	ENSP00000247161:p.Cys99Phe		47383596	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181897	0.38511	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.54071	0.59;0.59	5.52	2.42	0.29668	.	0.573737	0.19223	N	0.119617	T	0.33556	0.0867	N	0.19112	0.55	0.09310	N	0.999995	B	0.18610	0.029	B	0.14023	0.01	T	0.18777	-1.0326	10	0.44086	T	0.13	.	7.4652	0.27318	0.0:0.6569:0.0:0.3431	.	99	P19419	ELK1_HUMAN	F	99	ENSP00000247161:C99F;ENSP00000366182:C99F	ENSP00000247161:C99F	C	-	2	0	ELK1	47383596	1.000000	0.71417	0.403000	0.26384	0.959000	0.62525	2.010000	0.40913	0.432000	0.26286	0.600000	0.82982	TGC		0.597	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		A	47498652	C	A	47498652	3	1	55	1	0	0	0	0	1	0	0	0	5059	710	25	3	1006	3	ELK1	23	47498652	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	37436438	47498652	107771908	103	2856											
HUWE1	10075	broad.mit.edu	37	X	53607799	53607799	+	Nonsense_Mutation	SNP	G	G	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:53607799G>C	ENST00000342160.3	-	42	6165	c.5708C>G	c.(5707-5709)tCa>tGa	p.S1903*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1903*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1903					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S1766*(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCAGTTCCTGAGCCTCGAGG	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	X											58	44	49					X																	53607799		2203	4300	6503	53624524	SO:0001587	stop_gained	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5708C>G	X.37:g.53607799G>C	ENSP00000340648:p.Ser1903*		53624524	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	50	16.892027	0.99874	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	.	.	.	5.84	5.84	0.93424	.	0.077230	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	17.7627	0.88469	0.0:0.0:1.0:0.0	.	.	.	.	X	1903	.	ENSP00000262854:S1903X	S	-	2	0	HUWE1	53624524	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.370000	0.79589	2.467000	0.83353	0.600000	0.82982	TCA		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		C	53607799	G	C	53607799	4	2	55	1	0	0	0	0	0	1	0	0	7461	1294	45	3	7584	3	HUWE1	23	53607799	Nonsense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	6109147	53607799	101662761	104	2857											
MSN	4478	broad.mit.edu	37	X	64958948	64958953	+	In_Frame_Del	DEL	GGCAGA	GGCAGA	-			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	GGCAGA	GGCAGA	-	-	GGCAGA	GGCAGA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:64958948_64958953delGGCAGA	ENST00000360270.5	+	12	1633_1638	c.1461_1466delGGCAGA	c.(1459-1467)ggggcagag>ggg	p.AE488del		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	488					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.E489_A490del(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						ATGAGAATGGGGCAGAGGCTAGTGCT	0.558			T	ALK	ALCL																																		Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Deletion - In frame(1)	ovary(1)	X																																								64875678	SO:0001651	inframe_deletion	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1461_1466delGGCAGA	X.37:g.64958948_64958953delGGCAGA	ENSP00000353408:p.Ala488_Glu489del		64875673		In_Frame_Del	DEL	ENST00000360270.5	37	CCDS14382.1																																																																																				0.558	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		-	64958953	GGCAGA	-	64958948	7	5	55	1	0	1	0	1	0	0	0	0	9885	1219	43	0	1507	0	MSN	23	64958948	In_Frame_Del	DEL	GGCAGA	TCGA-09-2050-01A-01W-0799-08	11351149	64958948	90311612	105	2858											
NONO	4841	broad.mit.edu	37	X	70511753	70511753	+	Silent	SNP	A	A	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:70511753A>C	ENST00000276079.8	+	4	484	c.279A>C	c.(277-279)ctA>ctC	p.L93L	NONO_ENST00000535149.1_Silent_p.L4L|NONO_ENST00000373841.1_Silent_p.L93L|NONO_ENST00000373856.3_Silent_p.L93L	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	93	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L93L(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGAGGAAACTATTTGAGAAAT	0.433			T	TFE3	papillary renal cancer																																		Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	1	Substitution - coding silent(1)	ovary(1)	X											94	91	92					X																	70511753		2203	4298	6501	70428478	SO:0001819	synonymous_variant	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.279A>C	X.37:g.70511753A>C			70428478	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Silent	SNP	ENST00000276079.8	37	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	a	10.41	1.343435	0.24339	.	.	ENSG00000147140	ENST00000418921	.	.	.	4.99	-2.21	0.06973	.	.	.	.	.	T	0.47911	0.1471	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37033	-0.9723	4	.	.	.	-8.5514	4.8359	0.13464	0.1703:0.1403:0.5482:0.1412	.	.	.	.	S	12	.	.	Y	+	2	0	NONO	70428478	0.025000	0.19082	0.994000	0.49952	0.975000	0.68041	-1.079000	0.03410	-0.425000	0.07371	-0.460000	0.05396	TAT		0.433	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		C	70511753	A	C	70511753	2	2	55	1	0	0	0	0	0	0	0	1	10534	436	16	5		5	NONO	23	70511753	Silent	SNP	A	TCGA-09-2050-01A-01W-0799-08	5552805	70511753	84758807	106	2859											
PHKA1	5255	broad.mit.edu	37	X	71856224	71856224	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:71856224C>G	ENST00000373542.4	-	15	1631	c.1472G>C	c.(1471-1473)aGa>aCa	p.R491T	PHKA1_ENST00000541944.1_Missense_Mutation_p.R491T|PHKA1_ENST00000339490.3_Missense_Mutation_p.R491T|PHKA1_ENST00000373539.3_Missense_Mutation_p.R491T|PHKA1_ENST00000373545.3_Missense_Mutation_p.R491T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	491					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R491T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAGTTTCATTCTATTGTTGCA	0.353																																																1	Substitution - Missense(1)	ovary(1)	X											129	105	113					X																	71856224		2203	4300	6503	71772949	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1472G>C	X.37:g.71856224C>G	ENSP00000362643:p.Arg491Thr		71772949	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272184	0.23221	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.71	3.03	0.35002	Glycoside hydrolase 15-related (1);	0.355818	0.31601	N	0.007379	D	0.82697	0.5093	L	0.49640	1.575	0.36873	D	0.88903	P;B;B	0.40534	0.72;0.003;0.066	B;B;B	0.35182	0.197;0.026;0.155	T	0.80495	-0.1357	10	0.72032	D	0.01	-9.2904	7.35	0.26684	0.0:0.6432:0.0:0.3568	.	491;491;491	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	T	491	ENSP00000362646:R491T;ENSP00000362643:R491T;ENSP00000441251:R491T;ENSP00000342469:R491T;ENSP00000362640:R491T	ENSP00000342469:R491T	R	-	2	0	PHKA1	71772949	0.339000	0.24784	0.995000	0.50966	0.413000	0.31143	-0.230000	0.09083	0.211000	0.20683	-0.926000	0.02714	AGA		0.353	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			G	71856224	C	G	71856224	3	3	55	1	0	0	0	0	1	0	0	0	11843	913	32	3	2271	3	PHKA1	23	71856224	Missense_Mutation	SNP	C	TCGA-09-2050-01A-01W-0799-08	1344471	71856224	83414336	107	2860											
ARMCX1	51309	broad.mit.edu	37	X	100808009	100808009	+	Silent	SNP	C	C	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:100808009C>T	ENST00000372829.3	+	4	467	c.96C>T	c.(94-96)gaC>gaT	p.D32D		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	32						integral component of membrane (GO:0016021)		p.D32D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGGGAAGAGACGAGAACGAGA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	X											78	69	72					X																	100808009		2203	4300	6503	100694665	SO:0001819	synonymous_variant	51309			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.96C>T	X.37:g.100808009C>T			100694665	Q53HK2|Q9H2Q0	Silent	SNP	ENST00000372829.3	37	CCDS14487.1																																																																																				0.567	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		T	100808009	C	T	100808009	2	4	55	1	0	0	0	0	0	0	0	1	959	535	19	1		1	ARMCX1	23	100808009	Silent	SNP	C	TCGA-09-2050-01A-01W-0799-08	28951785	100808009	54462551	108	2861											
LRCH2	57631	broad.mit.edu	37	X	114404900	114404900	+	Silent	SNP	T	T	C			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:114404900T>C	ENST00000317135.8	-	6	990	c.960A>G	c.(958-960)tcA>tcG	p.S320S	LRCH2_ENST00000538422.1_Silent_p.S320S	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	320								p.S320S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						GTTTACTCAATGATGGAAGAT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	X											106	94	98					X																	114404900		1893	4094	5987	114311156	SO:0001819	synonymous_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.960A>G	X.37:g.114404900T>C			114311156	F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	ENST00000317135.8	37	CCDS48155.1																																																																																				0.358	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		C	114404900	T	C	114404900	2	2	55	1	0	0	0	0	0	0	0	1	8933	1451	51	4		4	LRCH2	23	114404900	Silent	SNP	T	TCGA-09-2050-01A-01W-0799-08	13596891	114404900	40865660	109	2862											
GPR119	139760	broad.mit.edu	37	X	129518830	129518830	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:129518830G>T	ENST00000276218.2	-	1	681	c.592C>A	c.(592-594)Cag>Aag	p.Q198K		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	198					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.Q198K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TTTCGAATCTGCTGGCTGTGC	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											94	76	82					X																	129518830		2203	4300	6503	129346511	SO:0001583	missense	139760			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.592C>A	X.37:g.129518830G>T	ENSP00000276218:p.Gln198Lys		129346511	Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970630	0.34754	.	.	ENSG00000147262	ENST00000276218	T	0.70869	-0.52	5.15	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.140116	0.50627	D	0.000106	T	0.56863	0.2014	L	0.36672	1.1	0.39134	D	0.961901	P	0.39352	0.669	B	0.34931	0.192	T	0.55547	-0.8124	10	0.19147	T	0.46	-2.678	12.9947	0.58640	0.0:0.0:0.837:0.163	.	198	Q8TDV5	GP119_HUMAN	K	198	ENSP00000276218:Q198K	ENSP00000276218:Q198K	Q	-	1	0	GPR119	129346511	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	8.996000	0.93539	1.135000	0.42183	-0.225000	0.12378	CAG		0.537	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		T	129518830	G	T	129518830	3	4	55	1	0	0	0	0	1	0	0	0	6634	1328	46	3	419	3	GPR119	23	129518830	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	15113930	129518830	25751730	110	2863											
SLC9A6	10479	broad.mit.edu	37	X	135092707	135092707	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2050-01A-01W-0799-08	TCGA-09-2050-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4d2525bf-2a2c-4170-935a-f38e92a8bd4c	4ca1ad27-23c5-4d83-9ffd-20db10d6239c	g.chrX:135092707G>T	ENST00000370698.3	+	7	945	c.910G>T	c.(910-912)Gca>Tca	p.A304S	SLC9A6_ENST00000370701.1_Missense_Mutation_p.A284S|SLC9A6_ENST00000370695.4_Missense_Mutation_p.A336S	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	304					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.A304P(1)|p.A304S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGGATCTTTTGCAATGGGTGC	0.403																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	X											236	183	201					X																	135092707		2203	4300	6503	134920373	SO:0001583	missense	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.910G>T	X.37:g.135092707G>T	ENSP00000359732:p.Ala304Ser		134920373	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323187	0.60634	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.17528	2.27;2.27;2.27	5.49	5.49	0.81192	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.64567	1.98	0.80722	D	1	B;B;B	0.31274	0.082;0.317;0.221	B;B;B	0.38921	0.196;0.124;0.285	T	0.03619	-1.1019	10	0.62326	D	0.03	.	17.2696	0.87097	0.0:0.0:1.0:0.0	.	284;336;304	B4DU30;Q92581-2;Q92581	.;.;SL9A6_HUMAN	S	284;304;336	ENSP00000359735:A284S;ENSP00000359732:A304S;ENSP00000359729:A336S	ENSP00000359729:A336S	A	+	1	0	SLC9A6	134920373	1.000000	0.71417	0.941000	0.38009	0.902000	0.53008	6.251000	0.72441	2.290000	0.77057	0.513000	0.50165	GCA		0.403	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		T	135092707	G	T	135092707	3	4	55	1	0	0	0	0	1	0	0	0	14721	1319	46	3	1032	3	SLC9A6	23	135092707	Missense_Mutation	SNP	G	TCGA-09-2050-01A-01W-0799-08	5573877	135092707	20177853	111	2864											
APLF	200558	broad.mit.edu	37	2	68765169	68765169	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2051-01A-01W-0799-08	TCGA-09-2051-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	27540bf8-6c1d-4894-b10a-295d27f62b5a	55cb0082-13be-472e-89cb-142a81129931	g.chr2:68765169T>G	ENST00000303795.4	+	7	1141	c.970T>G	c.(970-972)Tgt>Ggt	p.C324G	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	324					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.C324G(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GGCAATGAGCTGTTCTGAAAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											94	87	89					2																	68765169		2203	4300	6503	68618673	SO:0001583	missense	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.970T>G	2.37:g.68765169T>G	ENSP00000307004:p.Cys324Gly		68618673	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	.	5.485	0.274579	0.10403	.	.	ENSG00000169621	ENST00000303795	T	0.21932	1.98	5.19	-1.46	0.08800	.	0.905060	0.09655	N	0.773241	T	0.17704	0.0425	L	0.60455	1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33701	-0.9858	10	0.25751	T	0.34	.	6.1184	0.20139	0.0:0.2574:0.4637:0.2789	.	324	Q8IW19	APLF_HUMAN	G	324	ENSP00000307004:C324G	ENSP00000307004:C324G	C	+	1	0	APLF	68618673	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.158000	0.10070	-0.257000	0.09459	0.455000	0.32223	TGT		0.418	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		G	68765169	T	G	68765169	3	3	56	1	0	0	0	0	1	0	0	0	776	1580	55	5	996	5	APLF	2	68765169	Missense_Mutation	SNP	T	TCGA-09-2051-01A-01W-0799-08		68765169	174434204	1	2865											
SPTLC1	10558	broad.mit.edu	37	9	94821591	94821591	+	Splice_Site	SNP	C	C	T			TCGA-09-2051-01A-01W-0799-08	TCGA-09-2051-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	27540bf8-6c1d-4894-b10a-295d27f62b5a	55cb0082-13be-472e-89cb-142a81129931	g.chr9:94821591C>T	ENST00000262554.2	-	7	566		c.e7-1		SPTLC1_ENST00000482632.1_Splice_Site	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.?(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	AGCTCTATCTCTGCAAGGAAA	0.403																																																1	Unknown(1)	ovary(1)	9											87	77	81					9																	94821591		2203	4300	6503	93861412	SO:0001630	splice_region_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.561-1G>A	9.37:g.94821591C>T			93861412	A8K681|Q5VWB4|Q96IX6	Splice_Site	SNP	ENST00000262554.2	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233920	0.79688	.	.	ENSG00000090054	ENST00000262554	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTLC1	93861412	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.400000	0.79949	2.822000	0.97130	0.557000	0.71058	.		0.403	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	Intron	T	94821591	C	T	94821591	5	4	56	1	0	0	0	0	0	0	1	0	15125	927	32	2	897	2	SPTLC1	9	94821591	Splice_Site	SNP	C	TCGA-09-2051-01A-01W-0799-08		94821591	46391840	2	2866											
ST8SIA1	6489	broad.mit.edu	37	12	22440105	22440105	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2051-01A-01W-0799-08	TCGA-09-2051-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	27540bf8-6c1d-4894-b10a-295d27f62b5a	55cb0082-13be-472e-89cb-142a81129931	g.chr12:22440105G>A	ENST00000396037.4	-	2	840	c.359C>T	c.(358-360)tCa>tTa	p.S120L	ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.Q14*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	120					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.S120L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						AGAGTAAGTTGAATTGTCAAT	0.408																																																1	Substitution - Missense(1)	ovary(1)	12											106	98	101					12																	22440105		2203	4300	6503	22331372	SO:0001583	missense	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.359C>T	12.37:g.22440105G>A	ENSP00000379353:p.Ser120Leu		22331372	A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	CCDS8697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.909595|7.909595	0.98557|0.98557	.|.	.|.	ENSG00000111728|ENSG00000111728	ENST00000539510|ENST00000396037;ENST00000540824;ENST00000541868	.|T;T;T	.|0.64618	.|-0.11;1.58;-0.11	5.35|5.35	3.37|3.37	0.38596|0.38596	.|.	.|0.285303	.|0.34268	.|N	.|0.004101	.|T	.|0.53674	.|0.1811	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	A|A	1|1	.|B	.|0.21821	.|0.061	.|B	.|0.26614	.|0.071	.|T	.|0.63470	.|-0.6630	.|9	0.66056|0.62326	D|D	0.02|0.03	-2.9179|-2.9179	9.1551|9.1551	0.36988|0.36988	0.0:0.14:0.5834:0.2765|0.0:0.14:0.5834:0.2765	.|.	.|120	.|Q92185	.|SIA8A_HUMAN	X|L	14|120;71;97	.|ENSP00000379353:S120L;ENSP00000441707:S71L;ENSP00000440292:S97L	ENSP00000446363:Q14X|ENSP00000261197:S120L	Q|S	-|-	1|2	0|0	ST8SIA1|ST8SIA1	22331372|22331372	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.980000|0.980000	0.70556|0.70556	4.381000|4.381000	0.59587|0.59587	1.227000|1.227000	0.43598|0.43598	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.408	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		A	22440105	G	A	22440105	3	1	56	1	0	0	0	0	1	0	0	0	15233	1294	45	2	727	2	ST8SIA1	12	22440105	Missense_Mutation	SNP	G	TCGA-09-2051-01A-01W-0799-08		22440105	111411790	3	2867											
MYL4	4635	broad.mit.edu	37	17	45297309	45297309	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2051-01A-01W-0799-08	TCGA-09-2051-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	27540bf8-6c1d-4894-b10a-295d27f62b5a	55cb0082-13be-472e-89cb-142a81129931	g.chr17:45297309C>A	ENST00000354968.1	+	4	331	c.203C>A	c.(202-204)aCt>aAt	p.T68N	snoU13_ENST00000516279.1_RNA|MYL4_ENST00000393450.1_Missense_Mutation_p.T68N|MYL4_ENST00000572316.1_Missense_Mutation_p.T68N	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	68	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)	p.T68N(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CGGACCCCGACTGGAGAGATG	0.592																																																1	Substitution - Missense(1)	ovary(1)	17											66	66	66					17																	45297309		2203	4300	6503	42652308	SO:0001583	missense	4635				CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"Myosins / Light chain", "EF-hand domain containing"	7585	protein-coding gene	gene with protein product	"myosin, atrial/fetal muscle, light chain"	160770	"myosin, light polypeptide 4, alkali; atrial, embryonic"			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.203C>A	17.37:g.45297309C>A	ENSP00000347055:p.Thr68Asn		42652308	D3DXJ7|P11783	Missense_Mutation	SNP	ENST00000354968.1	37	CCDS11510.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243235	0.39697	.	.	ENSG00000198336	ENST00000354968;ENST00000393450	T;T	0.66995	-0.24;-0.24	5.65	2.46	0.29980	EF-hand-like domain (1);	0.692542	0.14274	N	0.329989	T	0.55401	0.1918	L	0.36672	1.1	0.32661	N	0.518085	B	0.12013	0.005	B	0.21151	0.033	T	0.58457	-0.7633	10	0.59425	D	0.04	-0.3004	9.2497	0.37547	0.0:0.6472:0.2761:0.0767	.	68	P12829	MYL4_HUMAN	N	68	ENSP00000347055:T68N;ENSP00000377096:T68N	ENSP00000347055:T68N	T	+	2	0	MYL4	42652308	0.000000	0.05858	0.133000	0.22050	0.846000	0.48090	1.167000	0.31847	0.370000	0.24538	0.561000	0.74099	ACT		0.592	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		A	45297309	C	A	45297309	3	1	56	1	0	0	0	0	1	0	0	0	10049	565	20	3	213	3	MYL4	17	45297309	Missense_Mutation	SNP	C	TCGA-09-2051-01A-01W-0799-08		45297309	35897901	4	2868											
RLF	6018	broad.mit.edu	37	1	40627309	40627309	+	Splice_Site	SNP	G	G	T			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr1:40627309G>T	ENST00000372771.4	+	1	264		c.e1+1			NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion						chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTTCTGCCAGGTGAGGGGCTG	0.642																																																1	Unknown(1)	ovary(1)	1											50	54	53					1																	40627309		2203	4300	6503	40399896	SO:0001630	splice_region_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.237+1G>T	1.37:g.40627309G>T			40399896	Q14CQ1|Q9NU60	Splice_Site	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879966	0.72294	.	.	ENSG00000117000	ENST00000372771	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5477	0.84451	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RLF	40399896	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.418000	0.66429	2.357000	0.79964	0.455000	0.32223	.		0.642	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	Intron	T	40627309	G	T	40627309	5	4	57	1	0	0	0	0	0	0	1	0	13392	1275	44	3	240	3	RLF	1	40627309	Splice_Site	SNP	G	TCGA-09-2053-01C-01W-0722-08		40627309	208623312	1	2869											
KCNS3	3790	broad.mit.edu	37	2	18113408	18113408	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr2:18113408C>T	ENST00000403915.1	+	3	1584	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.P378L	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	378	Segment H5 (pore-forming). {ECO:0000255}.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.P378L(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GACACCCACCCGGTCACCTTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											106	94	98					2																	18113408		2203	4300	6503	17976889	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1133C>T	2.37:g.18113408C>T	ENSP00000385968:p.Pro378Leu		17976889	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378497	0.82682	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98777	-5.13;-5.13	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97833	1.0264	10	0.87932	D	0	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	378	Q9BQ31	KCNS3_HUMAN	L	378	ENSP00000385968:P378L;ENSP00000305824:P378L	ENSP00000305824:P378L	P	+	2	0	KCNS3	17976889	1.000000	0.71417	0.967000	0.41034	0.928000	0.56348	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	CCG		0.557	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		T	18113408	C	T	18113408	3	4	57	1	0	0	0	0	1	0	0	0	8090	652	23	1	1135	1	KCNS3	2	18113408	Missense_Mutation	SNP	C	TCGA-09-2053-01C-01W-0722-08		18113408	225085965	2	2870											
GTF3C2	2976	broad.mit.edu	37	2	27552339	27552339	+	Missense_Mutation	SNP	C	C	T	rs573699100		TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr2:27552339C>T	ENST00000359541.2	-	13	2213	c.1784G>A	c.(1783-1785)cGg>cAg	p.R595Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.R595Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	595					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.R595Q(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGAGAGCCGTATCCGCTG	0.498													C|||	1	0.000199681	0	0.0014	5008	,	,		19196	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2											143	144	143					2																	27552339		2203	4300	6503	27405843	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1784G>A	2.37:g.27552339C>T	ENSP00000352536:p.Arg595Gln		27405843	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.389988|3.389988	0.61956|0.61956	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000454704|ENST00000359541;ENST00000264720	.|T;T	.|0.62941	.|-0.01;-0.01	5.87|5.87	5.87|5.87	0.94306|0.94306	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.057253	.|0.64402	.|D	.|0.000001	T|T	0.56366|0.56366	0.1980|0.1980	L|L	0.56769|0.56769	1.78|1.78	0.54753|0.54753	D|D	0.999987|0.999987	.|B	.|0.32653	.|0.379	.|B	.|0.18561	.|0.022	T|T	0.53121|0.53121	-0.8483|-0.8483	5|10	.|0.23891	.|T	.|0.37	-18.383|-18.383	18.0718|18.0718	0.89410|0.89410	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|595	.|Q8WUA4	.|TF3C2_HUMAN	S|Q	104|595	.|ENSP00000352536:R595Q;ENSP00000264720:R595Q	.|ENSP00000264720:R595Q	G|R	-|-	1|2	0|0	GTF3C2|GTF3C2	27405843|27405843	0.972000|0.972000	0.33761|0.33761	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.712000|0.712000	0.25779|0.25779	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.498	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			T	27552339	C	T	27552339	3	4	57	1	0	0	0	0	1	0	0	0	6873	652	23	1	979	1	GTF3C2	2	27552339	Missense_Mutation	SNP	C	TCGA-09-2053-01C-01W-0722-08	9438931	27552339	215647034	3	2871											
KCNK12	56660	broad.mit.edu	37	2	47748838	47748838	+	Silent	SNP	G	G	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr2:47748838G>A	ENST00000327876.4	-	2	1108	c.501C>T	c.(499-501)cgC>cgT	p.R167R	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	167						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(2)|p.R167R(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCGAGATGATGCGCTCCAGGA	0.701																																																5	Whole gene deletion(2)|Unknown(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(3)|ovary(1)|prostate(1)	2											18	20	20					2																	47748838		2192	4289	6481	47602342	SO:0001819	synonymous_variant	56660			AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.501C>T	2.37:g.47748838G>A			47602342		Silent	SNP	ENST00000327876.4	37	CCDS1835.1																																																																																				0.701	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		A	47748838	G	A	47748838	2	1	57	1	0	0	0	0	0	0	0	1	8060	1306	46	2		2	KCNK12	2	47748838	Silent	SNP	G	TCGA-09-2053-01C-01W-0722-08	20196499	47748838	195450535	4	2872											
WIPF1	7456	broad.mit.edu	37	2	175436888	175436888	+	Silent	SNP	G	G	A	rs141354164		TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr2:175436888G>A	ENST00000392547.2	-	5	744	c.645C>T	c.(643-645)ccC>ccT	p.P215P	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P215P|WIPF1_ENST00000409415.3_Silent_p.P215P|WIPF1_ENST00000392546.2_Silent_p.P215P|WIPF1_ENST00000272746.5_Silent_p.P215P|WIPF1_ENST00000467149.1_5'Flank|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.P215P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	215					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.P215P(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGTGGGCCCGGGGCTGGGCT	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		15199	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2						G	,	7,4375		0,7,2184	30	39	36		645,645	-1.7	0.6	2	dbSNP_134	36	0,8576		0,0,4288	no	coding-synonymous,coding-synonymous	WIPF1	NM_001077269.1,NM_003387.4	,	0,7,6472	AA,AG,GG		0.0,0.1597,0.054	,	215/504,215/504	175436888	7,12951	2191	4288	6479	175145134	SO:0001819	synonymous_variant	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.645C>T	2.37:g.175436888G>A			175145134	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	CCDS2260.1																																																																																				0.642	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		A	175436888	G	A	175436888	2	1	57	1	0	0	0	0	0	0	0	1	17367	1103	39	1		1	WIPF1	2	175436888	Silent	SNP	G	TCGA-09-2053-01C-01W-0722-08	127688050	175436888	67762485	5	2873											
FZD5	7855	broad.mit.edu	37	2	208632254	208632254	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr2:208632254C>A	ENST00000295417.3	-	2	1763	c.1210G>T	c.(1210-1212)Gtg>Ttg	p.V404L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	404					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V404L(1)		NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGGCCCAGCACGAAGCCGCGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	2											41	44	43					2																	208632254		2203	4299	6502	208340499	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1210G>T	2.37:g.208632254C>A	ENSP00000354607:p.Val404Leu		208340499	A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564405	0.86335	.	.	ENSG00000163251	ENST00000295417	D	0.84442	-1.85	5.29	5.29	0.74685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92116	0.7501	M	0.76938	2.355	0.80722	D	1	D	0.61080	0.989	D	0.66084	0.941	D	0.92365	0.5900	10	0.54805	T	0.06	.	18.934	0.92577	0.0:1.0:0.0:0.0	.	404	Q13467	FZD5_HUMAN	L	404	ENSP00000354607:V404L	ENSP00000354607:V404L	V	-	1	0	FZD5	208340499	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.464000	0.83262	0.555000	0.69702	GTG		0.672	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		A	208632254	C	A	208632254	3	1	57	1	0	0	0	0	1	0	0	0	6133	536	19	3	551	3	FZD5	2	208632254	Missense_Mutation	SNP	C	TCGA-09-2053-01C-01W-0722-08	33195366	208632254	34567119	6	2874											
FAM19A1	407738	broad.mit.edu	37	3	68466563	68466563	+	Silent	SNP	C	C	T	rs529839655	byFrequency	TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr3:68466563C>T	ENST00000478136.1	+	3	742	c.252C>T	c.(250-252)tgC>tgT	p.C84C	FAM19A1_ENST00000496687.1_Silent_p.C84C|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	84						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.C84C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GGCCTTCTTGCGTCGATGGTA	0.403													C|||	6	0.00119808	0	0	5008	,	,		17054	0		0	False		,,,				2504	0.0061															1	Substitution - coding silent(1)	ovary(1)	3											153	150	151					3																	68466563		1888	4113	6001	68549253	SO:0001819	synonymous_variant	407738			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.252C>T	3.37:g.68466563C>T			68549253	A8K0V3|Q8TCL8	Silent	SNP	ENST00000478136.1	37	CCDS54606.1																																																																																				0.403	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		T	68466563	C	T	68466563	2	4	57	1	0	0	0	0	0	0	0	1	5531	776	27	1		1	FAM19A1	3	68466563	Silent	SNP	C	TCGA-09-2053-01C-01W-0722-08		68466563	129555867	7	2875											
SCHIP1	100505385	broad.mit.edu	37	3	159604073	159604073	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr3:159604073G>A	ENST00000460298.1	+	4	1077	c.836G>A	c.(835-837)aGt>aAt	p.S279N	IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.S319N|SCHIP1_ENST00000482804.1_Missense_Mutation_p.S92N|SCHIP1_ENST00000445224.2_Missense_Mutation_p.S76N|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.S87N|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.S306N|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.S395N|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.S368N					IQCJ-SCHIP1 readthrough									p.S319N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GCTGATGACAGTAAGACTGAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											201	171	181					3																	159604073		2203	4300	6503	161086767	SO:0001583	missense	29970				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.836G>A	3.37:g.159604073G>A	ENSP00000417305:p.Ser279Asn		161086767		Missense_Mutation	SNP	ENST00000460298.1	37		.	.	.	.	.	.	.	.	.	.	G	26.8	4.776527	0.90195	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	L	0.28274	0.84	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.985;0.981;0.998;0.999;0.998	D;D;D;D;D;D	0.83275	0.996;0.966;0.916;0.994;0.996;0.994	T	0.61540	-0.7042	10	0.45353	T	0.12	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	279;92;76;306;319;395	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	N	368;395;319;306;87;279;76;92	ENSP00000418692:S368N;ENSP00000420182:S395N;ENSP00000337239:S319N;ENSP00000400942:S306N;ENSP00000436076:S87N;ENSP00000417305:S279N;ENSP00000404860:S76N;ENSP00000419230:S92N	ENSP00000337239:S319N	S	+	2	0	SCHIP1;IQCJ-SCHIP1	161086767	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	9.338000	0.96553	2.941000	0.99782	0.655000	0.94253	AGT		0.502	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		A	159604073	G	A	159604073	3	1	57	1	0	0	0	0	1	0	0	0	13907	1029	36	2	970	2	SCHIP1	3	159604073	Missense_Mutation	SNP	G	TCGA-09-2053-01C-01W-0722-08	91137510	159604073	38418357	8	2876											
SI	6476	broad.mit.edu	37	3	164785145	164785145	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr3:164785145T>A	ENST00000264382.3	-	6	680	c.618A>T	c.(616-618)aaA>aaT	p.K206N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	206	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.K206N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TACCGTTGCTTTTCCTAATAA	0.308										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	ovary(1)	3											86	85	85					3																	164785145		2203	4298	6501	166267839	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.618A>T	3.37:g.164785145T>A	ENSP00000264382:p.Lys206Asn		166267839	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548392	0.27652	.	.	ENSG00000090402	ENST00000264382	T	0.29655	1.56	5.25	4.08	0.47627	Glycoside hydrolase-type carbohydrate-binding (1);	0.419193	0.28914	N	0.013722	T	0.31575	0.0801	M	0.85197	2.74	0.31361	N	0.681315	B	0.26318	0.146	B	0.20767	0.031	T	0.44922	-0.9296	10	0.46703	T	0.11	.	2.2486	0.04038	0.1264:0.1456:0.1314:0.5966	.	206	P14410	SUIS_HUMAN	N	206	ENSP00000264382:K206N	ENSP00000264382:K206N	K	-	3	2	SI	166267839	0.870000	0.30015	0.998000	0.56505	0.588000	0.36517	0.293000	0.19029	0.942000	0.37525	0.467000	0.42956	AAA		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164785145	T	A	164785145	3	1	57	1	0	0	0	0	1	0	0	0	14300	1838	64	5	5037	5	SI	3	164785145	Missense_Mutation	SNP	T	TCGA-09-2053-01C-01W-0722-08	5181072	164785145	33237285	9	2877											
PCDHAC2	56134	broad.mit.edu	37	5	140347638	140347638	+	Silent	SNP	A	A	G			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr5:140347638A>G	ENST00000289269.5	+	1	1819	c.1287A>G	c.(1285-1287)cgA>cgG	p.R429R	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R429R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGACCGAGAGCGGGTGG	0.567																																					Melanoma(190;638 2083 3390 11909 52360)											1	Substitution - coding silent(1)	ovary(1)	5											86	89	88					5																	140347638		2203	4300	6503	140327822	SO:0001819	synonymous_variant	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1287A>G	5.37:g.140347638A>G			140327822	Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	CCDS4242.1																																																																																				0.567	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		G	140347638	A	G	140347638	2	3	57	1	0	0	0	0	0	0	0	1	11533	291	11	4		4	PCDHAC2	5	140347638	Silent	SNP	A	TCGA-09-2053-01C-01W-0722-08		140347638	40567622	10	2878											
CLINT1	9685	broad.mit.edu	37	5	157236727	157236727	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr5:157236727C>T	ENST00000411809.2	-	6	808	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	CLINT1_ENST00000530742.1_Missense_Mutation_p.G184S|CLINT1_ENST00000523908.1_Missense_Mutation_p.G202S|CLINT1_ENST00000523094.1_Missense_Mutation_p.G184S|CLINT1_ENST00000296951.5_Missense_Mutation_p.G184S|RNU6-260P_ENST00000384092.1_RNA	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	202					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.G184C(2)|p.G184S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCAGCTCACCTAATTTATCA	0.398																																					Colon(22;427 587 2170 6147 14291)											3	Substitution - Missense(3)	lung(2)|ovary(1)	5											150	138	142					5																	157236727		1867	4104	5971	157169305	SO:0001583	missense	9685			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.604G>A	5.37:g.157236727C>T	ENSP00000388340:p.Gly202Ser		157169305	B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	C	36	5.707223	0.96821	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.86	5.95	5.95	0.96441	.	0.097175	0.64402	D	0.000001	T	0.63141	0.2486	M	0.64404	1.975	0.80722	D	1	P;D	0.63046	0.765;0.992	B;P	0.59012	0.404;0.85	T	0.53373	-0.8448	10	0.20519	T	0.43	0.1971	20.3932	0.98965	0.0:1.0:0.0:0.0	.	202;202	B7Z6F8;Q14677	.;EPN4_HUMAN	S	184;184;202;184;202	ENSP00000429345:G184S;ENSP00000433419:G184S;ENSP00000388340:G202S;ENSP00000296951:G184S;ENSP00000429824:G202S	ENSP00000296951:G184S	G	-	1	0	CLINT1	157169305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	GGT		0.398	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		T	157236727	C	T	157236727	3	4	57	1	0	0	0	0	1	0	0	0	3531	681	24	2	1301	2	CLINT1	5	157236727	Missense_Mutation	SNP	C	TCGA-09-2053-01C-01W-0722-08	16889089	157236727	23678533	11	2879											
HSPA1A	3303	broad.mit.edu	37	6	31785270	31785270	+	Silent	SNP	G	G	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr6:31785270G>A	ENST00000375651.5	+	1	1980	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S	HSPA1L_ENST00000375654.4_5'Flank|HSPA1A_ENST00000608703.1_Silent_p.S414S|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000458062.2_Silent_p.S488S	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	579					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)	p.S579S(1)		endometrium(1)|ovary(1)|stomach(1)	3						AGGTCATCTCGTGGCTGGACG	0.572																																																1	Substitution - coding silent(1)	ovary(1)	6											78	51	60					6																	31785270		1883	3867	5750	31893249	SO:0001819	synonymous_variant	3303			BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"Heat shock proteins / HSP70"	5232	protein-coding gene	gene with protein product		140550	"heat shock 70kD protein 1A"	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1737G>A	6.37:g.31785270G>A			31893249	B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375651.5	37	CCDS34414.1																																																																																				0.572	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			A	31785270	G	A	31785270	2	1	57	1	0	0	0	0	0	0	0	1	7408	1132	40	1		1	HSPA1A	6	31785270	Silent	SNP	G	TCGA-09-2053-01C-01W-0722-08		31785270	139329797	12	2880											
MYOM2	9172	broad.mit.edu	37	8	2046692	2046692	+	Silent	SNP	C	C	T	rs181752146	byFrequency	TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr8:2046692C>T	ENST00000262113.4	+	19	2460	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	MYOM2_ENST00000523438.1_Silent_p.D198D	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	773	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D773D(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AATAGGTGGACGGCTTGACGG	0.488													C|||	19	0.00379393	0	0	5008	,	,		16415	0.0188		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	8											39	38	38					8																	2046692		2203	4300	6503	2034099	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2319C>T	8.37:g.2046692C>T			2034099	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.488	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2046692	C	T	2046692	2	4	57	1	0	0	0	0	0	0	0	1	10092	535	19	1		1	MYOM2	8	2046692	Silent	SNP	C	TCGA-09-2053-01C-01W-0722-08		2046692	144317330	13	2881											
DOCK5	80005	broad.mit.edu	37	8	25199955	25199955	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr8:25199955A>G	ENST00000276440.7	+	25	2593	c.2549A>G	c.(2548-2550)aAc>aGc	p.N850S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	850					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.N850S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATTCCTGACAACCAGCTGGTT	0.443																																					Pancreas(145;34 1887 3271 10937 30165)											1	Substitution - Missense(1)	ovary(1)	8											86	72	77					8																	25199955		2203	4300	6503	25255872	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2549A>G	8.37:g.25199955A>G	ENSP00000276440:p.Asn850Ser		25255872	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	A	6.289	0.421464	0.11928	.	.	ENSG00000147459	ENST00000276440	T	0.29397	1.57	4.58	4.58	0.56647	Armadillo-type fold (1);	0.324591	0.31660	N	0.007278	T	0.19005	0.0456	N	0.22421	0.69	0.29092	N	0.88204	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.10450	0.002;0.005;0.002	T	0.12502	-1.0545	10	0.09084	T	0.74	.	12.6666	0.56846	1.0:0.0:0.0:0.0	.	840;625;850	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	S	850	ENSP00000276440:N850S	ENSP00000276440:N850S	N	+	2	0	DOCK5	25255872	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.709000	0.47160	1.906000	0.55180	0.450000	0.29827	AAC		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		G	25199955	A	G	25199955	3	3	57	1	0	0	0	0	1	0	0	0	4690	43	2	4	2647	4	DOCK5	8	25199955	Missense_Mutation	SNP	A	TCGA-09-2053-01C-01W-0722-08	23153263	25199955	121164067	14	2882											
PRKDC	5591	broad.mit.edu	37	8	48805847	48805847	+	Silent	SNP	C	C	T			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr8:48805847C>T	ENST00000314191.2	-	31	3755	c.3699G>A	c.(3697-3699)tcG>tcA	p.S1233S	PRKDC_ENST00000338368.3_Silent_p.S1233S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1233					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.S1233S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCAGGATGCCCGAGGGCTGGC	0.587								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											1	Substitution - coding silent(1)	ovary(1)	8											28	30	29					8																	48805847		1898	4109	6007	48968400	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3699G>A	8.37:g.48805847C>T			48968400	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																					0.587	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		T	48805847	C	T	48805847	2	4	57	1	0	0	0	0	0	0	0	1	12524	639	23	1		1	PRKDC	8	48805847	Silent	SNP	C	TCGA-09-2053-01C-01W-0722-08	23605892	48805847	97558175	15	2883											
SDC2	6383	broad.mit.edu	37	8	97605775	97605775	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr8:97605775T>G	ENST00000302190.4	+	2	1049	c.128T>G	c.(127-129)gTg>gGg	p.V43G	SDC2_ENST00000518385.1_Intron|SDC2_ENST00000522911.1_Missense_Mutation_p.V14G|SDC2_ENST00000519914.1_Missense_Mutation_p.V14G	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	43					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)	p.V43G(1)		breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GCTTCAGGAGTGTATCCTATT	0.488																																																1	Substitution - Missense(1)	ovary(1)	8											153	118	130					8																	97605775		2203	4300	6503	97674951	SO:0001583	missense	6383			BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"Proteoglycans / Cell Surface : Syndecans", "CD molecules"	10659	protein-coding gene	gene with protein product	"syndecan proteoglycan 2"	142460	"heparan sulfate proteoglycan 1, cell surface-associated"	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.128T>G	8.37:g.97605775T>G	ENSP00000307046:p.Val43Gly		97674951	B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012567	0.54468	.	.	ENSG00000169439	ENST00000302190;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.75	5.75	0.90469	.	0.426735	0.25572	N	0.029753	T	0.38268	0.1034	L	0.27053	0.805	0.80722	D	1	P	0.50443	0.935	P	0.49047	0.599	T	0.08207	-1.0733	10	0.24483	T	0.36	-14.9965	13.8671	0.63594	0.0:0.0:0.0:1.0	.	43	P34741	SDC2_HUMAN	G	43;43;33;14;14;14;14	ENSP00000307046:V43G;ENSP00000427784:V14G;ENSP00000428256:V14G;ENSP00000429121:V14G	ENSP00000307046:V43G	V	+	2	0	SDC2	97674951	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.485000	0.60279	2.320000	0.78422	0.528000	0.53228	GTG		0.488	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		G	97605775	T	G	97605775	3	3	57	1	0	0	0	0	1	0	0	0	13955	1696	59	5	134	5	SDC2	8	97605775	Missense_Mutation	SNP	T	TCGA-09-2053-01C-01W-0722-08	48799928	97605775	48758247	16	2884											
SCRIB	23513	broad.mit.edu	37	8	144891086	144891086	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr8:144891086A>T	ENST00000320476.3	-	15	1814	c.1808T>A	c.(1807-1809)aTc>aAc	p.I603N	SCRIB_ENST00000377533.3_Missense_Mutation_p.I522N|SCRIB_ENST00000356994.2_Missense_Mutation_p.I603N	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	603	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.I603N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCCTTGCGGATGAGCCGCTG	0.647																																					Pancreas(51;966 1133 10533 14576 29674)											1	Substitution - Missense(1)	ovary(1)	8											86	88	87					8																	144891086		2203	4300	6503	144963074	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1808T>A	8.37:g.144891086A>T	ENSP00000322938:p.Ile603Asn		144963074	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	a	16.82	3.227770	0.58668	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.39229	1.31;1.28;1.09	4.79	3.63	0.41609	.	.	.	.	.	T	0.57607	0.2065	M	0.68593	2.085	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.53041	-0.8494	9	0.32370	T	0.25	.	9.5297	0.39187	0.9158:0.0:0.0842:0.0	.	603;603	Q14160;Q14160-3	SCRIB_HUMAN;.	N	603;603;522	ENSP00000349486:I603N;ENSP00000322938:I603N;ENSP00000366756:I522N	ENSP00000322938:I603N	I	-	2	0	SCRIB	144963074	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.943000	0.63554	0.696000	0.31696	0.330000	0.21533	ATC		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		T	144891086	A	T	144891086	3	4	57	1	0	0	0	0	1	0	0	0	13940	333	12	5	3251	5	SCRIB	8	144891086	Missense_Mutation	SNP	A	TCGA-09-2053-01C-01W-0722-08	47285311	144891086	1472936	17	2885											
PTPRD	5789	broad.mit.edu	37	9	8331723	8331723	+	Missense_Mutation	SNP	C	C	T	rs367558329		TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr9:8331723C>T	ENST00000381196.4	-	41	5936	c.5393G>A	c.(5392-5394)cGa>cAa	p.R1798Q	PTPRD_ENST00000358503.5_Missense_Mutation_p.R1776Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1392Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1391Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1785Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1391Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1391Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1798Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1798Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1388Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1388Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1798	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1798Q(2)|p.R1269Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCTTACTGTTCGGGACTGGCC	0.498										TSP Lung(15;0.13)																																						3	Substitution - Missense(3)	prostate(2)|ovary(1)	9											88	84	85					9																	8331723		2203	4300	6503	8321723	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5393G>A	9.37:g.8331723C>T	ENSP00000370593:p.Arg1798Gln		8321723	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780857	0.96929	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.58	5.58	0.84498	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	M	0.81341	2.54	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;0.998;0.998;0.994;0.997;1.0;1.0;0.999	D;D;D;D;P;D;D;D;D	0.83275	0.948;0.948;0.948;0.948;0.633;0.914;0.937;0.996;0.946	T	0.19614	-1.0300	9	.	.	.	.	19.9404	0.97159	0.0:1.0:0.0:0.0	.	1391;1382;1391;1392;1388;1388;1785;1798;1798	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1798;1798;1785;1776;1392;1391;1388;1388;1269;1798;1391;1391	ENSP00000370593:R1798Q;ENSP00000348812:R1798Q;ENSP00000353187:R1785Q;ENSP00000351293:R1776Q;ENSP00000347373:R1392Q;ENSP00000380741:R1391Q;ENSP00000380735:R1388Q;ENSP00000440515:R1388Q;ENSP00000438164:R1798Q;ENSP00000417093:R1391Q;ENSP00000380731:R1391Q	.	R	-	2	0	PTPRD	8321723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.788000	0.95919	0.555000	0.69702	CGA		0.498	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8331723	C	T	8331723	3	4	57	1	0	0	0	0	1	0	0	0	12802	884	31	1	357	1	PTPRD	9	8331723	Missense_Mutation	SNP	C	TCGA-09-2053-01C-01W-0722-08		8331723	132881708	18	2886											
TRPM3	80036	broad.mit.edu	37	9	73477872	73477872	+	Silent	SNP	A	A	C			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr9:73477872A>C	ENST00000377111.2	-	3	657	c.414T>G	c.(412-414)gcT>gcG	p.A138A	TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000357533.2_Silent_p.A140A|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000423814.3_Silent_p.A140A|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000377110.3_Silent_p.A138A|TRPM3_ENST00000396283.1_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	138					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.A140A(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGTCCCAAAAGCATCCGTAG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	9											200	196	197					9																	73477872		2203	4300	6503	72667692	SO:0001819	synonymous_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.414T>G	9.37:g.73477872A>C			72667692	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	A	11.30	1.597401	0.28445	.	.	ENSG00000083067	ENST00000377097	.	.	.	5.95	3.64	0.41730	.	.	.	.	.	T	0.59018	0.2163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55373	-0.8151	4	.	.	.	-3.684	8.9866	0.35997	0.7548:0.0:0.2452:0.0	.	.	.	.	R	28	.	.	L	-	2	0	TRPM3	72667692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.758000	0.26447	1.075000	0.40932	0.533000	0.62120	CTT		0.463	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		C	73477872	A	C	73477872	2	2	57	1	0	0	0	0	0	0	0	1	16587	59	3	5		5	TRPM3	9	73477872	Silent	SNP	A	TCGA-09-2053-01C-01W-0722-08	65146149	73477872	67735559	19	2887											
OR13C5	138799	broad.mit.edu	37	9	107360994	107360994	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr9:107360994C>A	ENST00000374779.2	-	1	794	c.701G>T	c.(700-702)aGa>aTa	p.R234I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGGTTTGCTTCTCCCCTCCGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	9											133	120	125					9																	107360994		2203	4300	6503	106400815	SO:0001583	missense	138799				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.701G>T	9.37:g.107360994C>A	ENSP00000363911:p.Arg234Ile		106400815	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510096	0.64522	.	.	ENSG00000255800	ENST00000374779	T	0.00330	8.08	4.03	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001693	T	0.00815	0.0027	M	0.91717	3.235	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.37126	-0.9719	10	0.87932	D	0	.	6.8611	0.24067	0.0:0.7036:0.0:0.2964	.	234	Q8NGS8	O13C5_HUMAN	I	234	ENSP00000363911:R234I	ENSP00000363911:R234I	R	-	2	0	OR13C5	106400815	0.000000	0.05858	0.001000	0.08648	0.544000	0.35116	0.047000	0.14056	0.160000	0.19432	0.423000	0.28283	AGA		0.423	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		A	107360994	C	A	107360994	3	1	57	1	0	0	0	0	1	0	0	0	10937	913	32	3	257	3	OR13C5	9	107360994	Missense_Mutation	SNP	C	TCGA-09-2053-01C-01W-0722-08	33883122	107360994	33852437	20	2888											
ODF2	4957	broad.mit.edu	37	9	131233665	131233665	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr9:131233665C>G	ENST00000434106.3	+	6	862	c.499C>G	c.(499-501)Cac>Gac	p.H167D	ODF2_ENST00000351030.3_Missense_Mutation_p.H162D|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000448249.3_Missense_Mutation_p.H86D|ODF2_ENST00000372791.3_Missense_Mutation_p.H148D|ODF2_ENST00000372807.5_Missense_Mutation_p.H162D|ODF2_ENST00000604420.1_Missense_Mutation_p.H167D|ODF2_ENST00000546203.1_Missense_Mutation_p.H148D|ODF2_ENST00000444119.2_Missense_Mutation_p.H143D|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000393527.3_Missense_Mutation_p.H143D|ODF2_ENST00000372814.3_Missense_Mutation_p.H211D|ODF2_ENST00000393533.2_Missense_Mutation_p.H167D	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.H143D(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGAGGTGGCCCACGAACTGGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	9											177	155	163					9																	131233665		2203	4300	6503	130273486	SO:0001583	missense	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.499C>G	9.37:g.131233665C>G	ENSP00000403453:p.His167Asp		130273486	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865479	0.51588	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000421776;ENST00000444119;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000432065;ENST00000372791	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.99;1.01;1.99;1.01;1.01;1.01;1.01	5.98	5.98	0.97165	.	0.579096	0.20897	N	0.083703	T	0.36771	0.0979	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.18310	0.004;0.004;0.027;0.002;0.006;0.016;0.004;0.004;0.002;0.002	B;B;B;B;B;B;B;B;B;B	0.17098	0.006;0.004;0.017;0.002;0.009;0.009;0.004;0.006;0.003;0.002	T	0.17684	-1.0361	10	0.11485	T	0.65	-3.4897	19.0004	0.92830	0.0:1.0:0.0:0.0	.	148;162;86;101;167;211;162;148;167;143	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	D	167;211;162;167;143;86;86;143;167;148;148;91;148	ENSP00000377166:H167D;ENSP00000361901:H211D;ENSP00000342581:H162D;ENSP00000361882:H167D;ENSP00000307781:H143D;ENSP00000396687:H86D;ENSP00000394506:H143D;ENSP00000403453:H167D;ENSP00000437579:H148D;ENSP00000407852:H91D;ENSP00000361877:H148D	ENSP00000307781:H143D	H	+	1	0	ODF2	130273486	0.998000	0.40836	0.888000	0.34837	0.571000	0.35966	3.170000	0.50816	2.837000	0.97791	0.591000	0.81541	CAC		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			G	131233665	C	G	131233665	3	3	57	1	0	0	0	0	1	0	0	0	10827	594	21	3	572	3	ODF2	9	131233665	Missense_Mutation	SNP	C	TCGA-09-2053-01C-01W-0722-08	23872671	131233665	9979766	21	2889											
RGR	5995	broad.mit.edu	37	10	86008738	86008738	+	Missense_Mutation	SNP	G	G	A	rs373030585		TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr10:86008738G>A	ENST00000372092.3	+	3	264	c.259G>A	c.(259-261)Gtt>Att	p.V87I	RGR_ENST00000359452.4_Silent_p.A103A|RGR_ENST00000358110.5_Silent_p.A99A			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A103A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TTGTGACAGCGTTGGCCAGCA	0.637																																					NSCLC(15;204 545 5889 6385 32445)											1	Substitution - coding silent(1)	ovary(1)	10						G	,,	2,4404	4.2+/-10.8	0,2,2201	65	59	61		297,297,309	-8.4	0	10		61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RGR	NM_001012720.1,NM_001012722.1,NM_002921.3	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	99/292,99/254,103/296	86008738	2,13004	2203	4300	6503	85998718	SO:0001583	missense	5995			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000372092.3:c.259G>A	10.37:g.86008738G>A	ENSP00000361164:p.Val87Ile		85998718	A6NKK7|Q96FC5	Silent	SNP	ENST00000372092.3	37		.	.	.	.	.	.	.	.	.	.	G	1.943	-0.443074	0.04604	4.54E-4	0.0	ENSG00000148604	ENST00000372092	.	.	.	4.22	-8.44	0.00950	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.19300	N	0.99998	B	0.18166	0.026	B	0.06405	0.002	T	0.27054	-1.0085	7	0.87932	D	0	.	5.9322	0.19144	0.5623:0.0703:0.0746:0.2928	.	87	Q96HT6	.	I	87	.	ENSP00000361164:V87I	V	+	1	0	RGR	85998718	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-6.174000	0.00077	-3.672000	0.00123	-0.895000	0.02911	GTT		0.637	RGR-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049117.1	NM_002921		A	86008738	G	A	86008738	3	1	57	1	0	0	0	0	1	0	0	0	13294	1132	40	1	319	1	RGR	10	86008738	Missense_Mutation	SNP	G	TCGA-09-2053-01C-01W-0722-08		86008738	49526009	22	2890											
OR5L2	26338	broad.mit.edu	37	11	55594897	55594897	+	Missense_Mutation	SNP	T	T	C	rs201538214		TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr11:55594897T>C	ENST00000378397.1	+	1	203	c.203T>C	c.(202-204)tTt>tCt	p.F68S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F68S(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACTTGTCCTTTGTAGATTTC	0.468										HNSCC(27;0.073)																																						1	Substitution - Missense(1)	ovary(1)	11						T	SER/PHE	1,4399		0,1,2199	225	208	214		203	4.1	1	11		214	0,8592		0,0,4296	no	missense	OR5L2	NM_001004739.1	155	0,1,6495	CC,CT,TT		0.0,0.0227,0.0077	benign	68/312	55594897	1,12991	2200	4296	6496	55351473	SO:0001583	missense	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.203T>C	11.37:g.55594897T>C	ENSP00000367650:p.Phe68Ser		55351473	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	16.04	3.010147	0.54361	2.27E-4	0.0	ENSG00000205030	ENST00000378397	T	0.01005	5.45	5.21	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000119	T	0.02230	0.0069	M	0.85373	2.75	0.35155	D	0.770122	B	0.17465	0.022	B	0.20577	0.03	T	0.06643	-1.0815	10	0.62326	D	0.03	-33.1164	10.4977	0.44788	0.0:0.0783:0.0:0.9217	.	68	Q8NGL0	OR5L2_HUMAN	S	68	ENSP00000367650:F68S	ENSP00000367650:F68S	F	+	2	0	OR5L2	55351473	0.712000	0.27916	1.000000	0.80357	0.940000	0.58332	4.742000	0.62103	0.942000	0.37525	0.509000	0.49947	TTT		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		C	55594897	T	C	55594897	3	2	57	1	0	0	0	0	1	0	0	0	11171	1841	64	4	205	4	OR5L2	11	55594897	Missense_Mutation	SNP	T	TCGA-09-2053-01C-01W-0722-08		55594897	79411619	23	2891											
LRRK2	120892	broad.mit.edu	37	12	40707951	40707951	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr12:40707951G>A	ENST00000298910.7	+	32	4772	c.4714G>A	c.(4714-4716)Gca>Aca	p.A1572T	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1572					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.A1572T(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCTTCCTCACGCAGTTCACTT	0.338																																																2	Substitution - Missense(2)	ovary(2)	12											67	57	60					12																	40707951		2203	4299	6502	38994218	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4714G>A	12.37:g.40707951G>A	ENSP00000298910:p.Ala1572Thr		38994218	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146199	0.94603	.	.	ENSG00000188906	ENST00000298910	T	0.79247	-1.25	5.83	5.83	0.93111	.	0.055971	0.64402	D	0.000001	D	0.88614	0.6484	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.945;0.961	D	0.88885	0.3342	10	0.72032	D	0.01	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1572;1572	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1572	ENSP00000298910:A1572T	ENSP00000298910:A1572T	A	+	1	0	LRRK2	38994218	1.000000	0.71417	0.995000	0.50966	0.818000	0.46254	8.984000	0.93482	2.753000	0.94483	0.585000	0.79938	GCA		0.338	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40707951	G	A	40707951	3	1	57	1	0	0	0	0	1	0	0	0	9033	1087	38	1	4840	1	LRRK2	12	40707951	Missense_Mutation	SNP	G	TCGA-09-2053-01C-01W-0722-08		40707951	93143944	24	2892											
KRT85	3891	broad.mit.edu	37	12	52760873	52760873	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr12:52760873G>A	ENST00000257901.3	-	1	392	c.317C>T	c.(316-318)aCg>aTg	p.T106M	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	106	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T106M(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTGAGGGGCGTGAGGAGGCT	0.652																																																1	Substitution - Missense(1)	ovary(1)	12											119	116	117					12																	52760873		2203	4298	6501	51047140	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.317C>T	12.37:g.52760873G>A	ENSP00000257901:p.Thr106Met		51047140	Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179853	0.38511	.	.	ENSG00000135443	ENST00000257901	T	0.75938	-0.98	4.61	4.61	0.57282	.	0.224308	0.31721	N	0.007167	T	0.71508	0.3348	M	0.80183	2.485	0.35346	D	0.786923	P	0.34837	0.472	B	0.26310	0.068	T	0.81172	-0.1054	10	0.66056	D	0.02	.	11.2566	0.49058	0.0:0.1351:0.7257:0.1392	.	106	P78386	KRT85_HUMAN	M	106	ENSP00000257901:T106M	ENSP00000257901:T106M	T	-	2	0	KRT85	51047140	0.012000	0.17670	0.536000	0.28039	0.981000	0.71138	1.743000	0.38258	2.550000	0.86006	0.462000	0.41574	ACG		0.652	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		A	52760873	G	A	52760873	3	1	57	1	0	0	0	0	1	0	0	0	8499	1145	40	1	1242	1	KRT85	12	52760873	Missense_Mutation	SNP	G	TCGA-09-2053-01C-01W-0722-08	12052922	52760873	81091022	25	2893											
UTP20	27340	broad.mit.edu	37	12	101757449	101757449	+	Nonsense_Mutation	SNP	C	C	G			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr12:101757449C>G	ENST00000261637.4	+	45	6060	c.5886C>G	c.(5884-5886)taC>taG	p.Y1962*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1962					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.Y1962*(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						GCAAAAGTTACGACTCTTATG	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	12											121	107	112					12																	101757449		2203	4300	6503	100281580	SO:0001587	stop_gained	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.5886C>G	12.37:g.101757449C>G	ENSP00000261637:p.Tyr1962*		100281580	Q9H3H4	Nonsense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	45	11.952519	0.99621	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.92	-5.25	0.02781	.	0.248072	0.44285	D	0.000474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7135	17.9612	0.89086	0.0:0.615:0.0:0.385	.	.	.	.	X	1962	.	ENSP00000261637:Y1962X	Y	+	3	2	UTP20	100281580	0.000000	0.05858	0.689000	0.30133	0.861000	0.49209	-2.634000	0.00869	-0.897000	0.03910	-0.345000	0.07892	TAC		0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		G	101757449	C	G	101757449	4	3	57	1	0	0	0	0	0	1	0	0	17099	547	19	3	6064	3	UTP20	12	101757449	Nonsense_Mutation	SNP	C	TCGA-09-2053-01C-01W-0722-08	48996576	101757449	32094446	26	2894											
FOXG1	2290	broad.mit.edu	37	14	29237220	29237220	+	Silent	SNP	C	C	T			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr14:29237220C>T	ENST00000313071.4	+	1	934	c.735C>T	c.(733-735)caC>caT	p.H245H	FOXG1_ENST00000382535.3_Silent_p.H245H|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	245					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H245H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TGCCGCGCCACTACGACGACC	0.622																																																1	Substitution - coding silent(1)	ovary(1)	14											48	48	48					14																	29237220		2203	4300	6503	28306971	SO:0001819	synonymous_variant	2290				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.735C>T	14.37:g.29237220C>T			28306971	A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	CCDS9636.1																																																																																				0.622	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			T	29237220	C	T	29237220	2	4	57	1	0	0	0	0	0	0	0	1	6007	564	20	2		2	FOXG1	14	29237220	Silent	SNP	C	TCGA-09-2053-01C-01W-0722-08		29237220	78112320	27	2895											
MAP1A	4130	broad.mit.edu	37	15	43818600	43818600	+	Silent	SNP	G	G	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr15:43818600G>A	ENST00000300231.5	+	4	5379	c.4929G>A	c.(4927-4929)ggG>ggA	p.G1643G	MAP1A_ENST00000399453.1_Silent_p.G1643G|MAP1A_ENST00000382031.1_Silent_p.G1881G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1643					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.G1643G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACTGGAGGGGGCAGGATGTGG	0.572																																																1	Substitution - coding silent(1)	ovary(1)	15											46	59	55					15																	43818600		1966	4142	6108	41605892	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4929G>A	15.37:g.43818600G>A			41605892	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	CCDS42031.1																																																																																				0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		A	43818600	G	A	43818600	2	1	57	1	0	0	0	0	0	0	0	1	9227	1190	42	2		2	MAP1A	15	43818600	Silent	SNP	G	TCGA-09-2053-01C-01W-0722-08		43818600	58712792	28	2896											
BFAR	51283	broad.mit.edu	37	16	14743686	14743686	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr16:14743686G>A	ENST00000261658.2	+	4	771	c.494G>A	c.(493-495)aGc>aAc	p.S165N	BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Missense_Mutation_p.S37N	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	165					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.S165N(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TATCACTGGAGCAGCAGGGAA	0.567																																																1	Substitution - Missense(1)	ovary(1)	16											83	79	80					16																	14743686		2197	4300	6497	14651187	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.494G>A	16.37:g.14743686G>A	ENSP00000261658:p.Ser165Asn		14651187	A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325967	0.81580	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.46451	3.25;0.87	5.35	5.35	0.76521	.	0.147966	0.64402	D	0.000005	T	0.34308	0.0893	L	0.34521	1.04	0.53005	D	0.999969	B;B	0.26635	0.155;0.009	B;B	0.23018	0.043;0.006	T	0.07790	-1.0754	10	0.23302	T	0.38	-13.5849	18.0392	0.89314	0.0:0.0:1.0:0.0	.	37;165	B4DUT0;Q9NZS9	.;BFAR_HUMAN	N	165;37	ENSP00000261658:S165N;ENSP00000400634:S37N	ENSP00000261658:S165N	S	+	2	0	BFAR	14651187	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.397000	0.73239	2.498000	0.84270	0.462000	0.41574	AGC		0.567	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		A	14743686	G	A	14743686	3	1	57	1	0	0	0	0	1	0	0	0	1414	971	34	2	504	2	BFAR	16	14743686	Missense_Mutation	SNP	G	TCGA-09-2053-01C-01W-0722-08		14743686	75611067	29	2897											
NUDT7	283927	broad.mit.edu	37	16	77759482	77759482	+	Splice_Site	SNP	G	G	T			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr16:77759482G>T	ENST00000268533.5	+	2	258		c.e2+1		NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000437314.3_Splice_Site|NUDT7_ENST00000568787.1_Splice_Site|NUDT7_ENST00000564085.1_Splice_Site	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7						acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.?(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GTCAGAGAAGGTAGGTGGACA	0.418																																																1	Unknown(1)	ovary(1)	16											73	73	73					16																	77759482		1862	4096	5958	76316983	SO:0001630	splice_region_variant	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"Nudix motif containing"	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.189+1G>T	16.37:g.77759482G>T			76316983	B4DLE5|H3BUB8	Splice_Site	SNP	ENST00000268533.5	37	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658499	0.47467	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9477	0.71044	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUDT7	76316983	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	5.449000	0.66619	2.599000	0.87857	0.563000	0.77884	.		0.418	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1		Intron	T	77759482	G	T	77759482	5	4	57	1	0	0	0	0	0	0	1	0	10744	1275	44	3	196	3	NUDT7	16	77759482	Splice_Site	SNP	G	TCGA-09-2053-01C-01W-0722-08	63015796	77759482	12595271	30	2898											
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	GACTGCTTGTAGATGGCCATG	0.622		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"	71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	17											53	54	53					17																	7578443		2203	4300	6503	7519168	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.487T>C	17.37:g.7578443A>G	ENSP00000269305:p.Tyr163His		7519168	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	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916592	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.53005	D	0.999963	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.983;0.999;0.999;0.999;0.994	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H	ENSP00000269305:Y163H	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578443	A	G	7578443	3	3	57	1	0	0	0	0	1	0	0	0	16381	420	15	4	811	4	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-09-2053-01C-01W-0722-08		7578443	73616767	31	2899											
NF1	4763	broad.mit.edu	37	17	29548875	29548875	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr17:29548875T>C	ENST00000358273.4	+	15	2032	c.1649T>C	c.(1648-1650)cTg>cCg	p.L550P	NF1_ENST00000356175.3_Missense_Mutation_p.L550P|NF1_ENST00000431387.4_Missense_Mutation_p.L550P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	550					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L550P(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGGCTCTGCTGGTTCTTCAT	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|ovary(1)	17											55	54	54					17																	29548875		2202	4294	6496	26573001	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1649T>C	17.37:g.29548875T>C	ENSP00000351015:p.Leu550Pro		26573001	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463600	0.84425	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.66099	2.27;-0.19;-0.19;2.51	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.79370	0.4434	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.91635	0.994;0.994;0.99;0.999	T	0.81872	-0.0733	10	0.87932	D	0	.	16.1021	0.81178	0.0:0.0:0.0:1.0	.	550;550;550;550	E1P657;P21359-2;P21359;Q14931	.;.;NF1_HUMAN;.	P	550;550;550;216	ENSP00000412921:L550P;ENSP00000351015:L550P;ENSP00000348498:L550P;ENSP00000389907:L216P	ENSP00000348498:L550P	L	+	2	0	NF1	26573001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.210000	0.71456	0.533000	0.62120	CTG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29548875	T	C	29548875	3	2	57	1	0	0	0	0	1	0	0	0	10356	1580	55	4	1707	4	NF1	17	29548875	Missense_Mutation	SNP	T	TCGA-09-2053-01C-01W-0722-08	21970432	29548875	51646335	32	2900											
RBBP8	5932	broad.mit.edu	37	18	20602131	20602131	+	Silent	SNP	T	T	C	rs140165933		TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr18:20602131T>C	ENST00000399722.2	+	18	2845	c.2494T>C	c.(2494-2496)Ttg>Ctg	p.L832L	RBBP8_ENST00000360790.5_Silent_p.L837L|RBBP8_ENST00000327155.5_Silent_p.L832L|Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000581687.1_Silent_p.L10L|RBBP8_ENST00000399725.2_Silent_p.N799N	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	832					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.L832L(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGAAAAGAAATTGGCTTCCTG	0.368								Homologous recombination																																								1	Substitution - coding silent(1)	ovary(1)	18						T	,,	0,4406		0,0,2203	147	155	152		2494,2494,2397	0.4	1	18	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RBBP8	NM_002894.2,NM_203291.1,NM_203292.1	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	832/898,832/898,799/868	20602131	1,13005	2203	4300	6503	18856129	SO:0001819	synonymous_variant	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2494T>C	18.37:g.20602131T>C			18856129	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	CCDS11875.1																																																																																				0.368	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		C	20602131	T	C	20602131	2	2	57	1	0	0	0	0	0	0	0	1	13108	1490	52	4		4	RBBP8	18	20602131	Silent	SNP	T	TCGA-09-2053-01C-01W-0722-08		20602131	57475117	33	2901											
ZNF181	339318	broad.mit.edu	37	19	35231923	35231923	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chr19:35231923A>G	ENST00000492450.1	+	4	726	c.637A>G	c.(637-639)Aat>Gat	p.N213D	ZNF181_ENST00000392232.3_Missense_Mutation_p.N257D|ZNF181_ENST00000459757.2_Missense_Mutation_p.N212D			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N149D(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTGAATTCTAATAAAAGTGG	0.358																																																1	Substitution - Missense(1)	ovary(1)	19											74	85	81					19																	35231923		2201	4299	6500	39923763	SO:0001583	missense	339318			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.637A>G	19.37:g.35231923A>G	ENSP00000420727:p.Asn213Asp		39923763	B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	A	3.125	-0.179652	0.06380	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.07327	3.2;3.2;3.2	2.89	1.86	0.25419	.	.	.	.	.	T	0.08044	0.0201	L	0.53249	1.67	0.09310	N	0.999995	B;B	0.29766	0.0;0.256	B;B	0.24701	0.0;0.055	T	0.32561	-0.9902	9	0.28530	T	0.3	.	6.6257	0.22828	0.8744:0.0:0.1256:0.0	.	212;213	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	D	257;212;213;212	ENSP00000376065:N257D;ENSP00000420727:N213D;ENSP00000419435:N212D	ENSP00000376065:N257D	N	+	1	0	ZNF181	39923763	.	.	0.995000	0.50966	0.190000	0.23558	.	.	0.501000	0.28013	0.402000	0.26972	AAT		0.358	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		G	35231923	A	G	35231923	3	3	57	1	0	0	0	0	1	0	0	0	17749	362	13	4	651	4	ZNF181	19	35231923	Missense_Mutation	SNP	A	TCGA-09-2053-01C-01W-0722-08		35231923	23897060	34	2902											
ITGB1BP2	26548	broad.mit.edu	37	X	70522291	70522291	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chrX:70522291A>G	ENST00000373829.3	+	4	275	c.202A>G	c.(202-204)Aag>Gag	p.K68E	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.K50E	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	68					muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.K68E(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CTGTGCTGAGAAGCTTCCTGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											64	61	62					X																	70522291		2203	4300	6503	70439016	SO:0001583	missense	26548			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.202A>G	X.37:g.70522291A>G	ENSP00000362935:p.Lys68Glu		70439016	Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	a	16.41	3.116400	0.56505	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	4.91	3.76	0.43208	.	0.047718	0.85682	D	0.000000	T	0.56124	0.1964	L	0.52011	1.625	0.49687	D	0.999819	B;D	0.56968	0.009;0.978	B;P	0.57776	0.005;0.827	T	0.58148	-0.7687	9	0.59425	D	0.04	-14.6922	5.7021	0.17887	0.8822:0.0:0.1178:0.0	.	50;68	Q32N04;Q9UKP3	.;ITBP2_HUMAN	E	68;50	.	ENSP00000362935:K68E	K	+	1	0	ITGB1BP2	70439016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.661000	0.54503	1.929000	0.55896	0.481000	0.45027	AAG		0.473	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		G	70522291	A	G	70522291	3	3	57	1	0	0	0	0	1	0	0	0	7892	247	9	4	216	4	ITGB1BP2	23	70522291	Missense_Mutation	SNP	A	TCGA-09-2053-01C-01W-0722-08		70522291	84748269	35	2903											
AFF2	2334	broad.mit.edu	37	X	147919205	147919205	+	Missense_Mutation	SNP	C	C	T	rs200306870		TCGA-09-2053-01C-01W-0722-08	TCGA-09-2053-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9d97fd73-5ca9-4689-8b3b-f42bde1bfb85	24c8e468-a13f-40df-9c36-9b3199776bb8	g.chrX:147919205C>T	ENST00000370460.2	+	5	1600	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000370457.5_Intron|AFF2_ENST00000342251.3_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	374					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.S374F(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCACTTCCATGCATACT	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											174	137	150					X																	147919205		2203	4300	6503	147726897	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1121C>T	X.37:g.147919205C>T	ENSP00000359489:p.Ser374Phe		147726897	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217604	0.22373	.	.	ENSG00000155966	ENST00000370460	T	0.66995	-0.24	5.42	3.58	0.41010	.	0.379308	0.24954	N	0.034273	T	0.48040	0.1478	N	0.08118	0	0.80722	D	1	B;P	0.34815	0.415;0.47	B;B	0.38428	0.179;0.273	T	0.50013	-0.8877	10	0.87932	D	0	.	10.0962	0.42478	0.1544:0.7006:0.1451:0.0	.	370;374	P51816-5;P51816	.;AFF2_HUMAN	F	374	ENSP00000359489:S374F	ENSP00000359489:S374F	S	+	2	0	AFF2	147726897	1.000000	0.71417	0.990000	0.47175	0.180000	0.23129	2.234000	0.43035	0.438000	0.26450	-0.229000	0.12294	TCC		0.403	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	147919205	C	T	147919205	3	4	57	1	0	0	0	0	1	0	0	0	357	855	30	2	1194	2	AFF2	23	147919205	Missense_Mutation	SNP	C	TCGA-09-2053-01C-01W-0722-08	77396914	147919205	7351355	36	2904											
NT5C1A	84618	broad.mit.edu	37	1	40126768	40126768	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr1:40126768T>C	ENST00000235628.1	-	5	723	c.724A>G	c.(724-726)Aac>Gac	p.N242D		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	242					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.N242D(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAGGTTTGTTCTCGTGGGCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	1											106	105	106					1																	40126768		2203	4300	6503	39899355	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.724A>G	1.37:g.40126768T>C	ENSP00000235628:p.Asn242Asp		39899355	Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	CCDS440.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.944005	0.34283	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.19	5.19	0.71726	.	0.041945	0.85682	D	0.000000	T	0.40932	0.1137	N	0.16368	0.405	0.53005	D	0.99996	B	0.17038	0.02	B	0.20384	0.029	T	0.27905	-1.0060	9	0.11794	T	0.64	-3.8563	15.3637	0.74503	0.0:0.0:0.0:1.0	.	242	Q9BXI3	5NT1A_HUMAN	D	242	.	ENSP00000235628:N242D	N	-	1	0	NT5C1A	39899355	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.018000	0.57174	2.102000	0.63906	0.528000	0.53228	AAC		0.632	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		C	40126768	T	C	40126768	3	2	58	1	0	0	0	0	1	0	0	0	10685	1783	62	4	390	4	NT5C1A	1	40126768	Missense_Mutation	SNP	T	TCGA-09-2056-01B-01W-0722-08		40126768	209123853	1	2905											
C1orf168	199920	broad.mit.edu	37	1	57189326	57189326	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr1:57189326T>C	ENST00000343433.6	-	17	1989	c.1909A>G	c.(1909-1911)Aag>Gag	p.K637E	C1orf168_ENST00000484327.1_5'Flank	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	637								p.K637E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTTTGCTTCTTGGTTTTGAAG	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											52	51	51					1																	57189326		2201	4296	6497	56961914	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1909A>G	1.37:g.57189326T>C	ENSP00000345972:p.Lys637Glu		56961914	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504967	0.64410	.	.	ENSG00000187889	ENST00000343433	T	0.36699	1.24	4.74	4.74	0.60224	.	0.000000	0.53938	D	0.000049	T	0.53965	0.1829	M	0.68317	2.08	0.35277	D	0.780985	D	0.71674	0.998	D	0.66351	0.943	T	0.65307	-0.6200	10	0.45353	T	0.12	-11.5604	12.1494	0.54042	0.0:0.0:0.0:1.0	.	637	Q5VWT5	CA168_HUMAN	E	637	ENSP00000345972:K637E	ENSP00000345972:K637E	K	-	1	0	C1orf168	56961914	0.998000	0.40836	0.935000	0.37517	0.885000	0.51271	4.072000	0.57563	2.119000	0.64992	0.533000	0.62120	AAG		0.318	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		C	57189326	T	C	57189326	3	2	58	1	0	0	0	0	1	0	0	0	2012	1821	63	4	293	4	C1orf168	1	57189326	Missense_Mutation	SNP	T	TCGA-09-2056-01B-01W-0722-08	17062558	57189326	192061295	2	2906											
OVGP1	5016	broad.mit.edu	37	1	111963991	111963992	+	Frame_Shift_Ins	INS	-	-	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	-	-	A	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr1:111963991_111963992insA	ENST00000369732.3	-	8	864_865	c.809_810insT	c.(808-810)ctcfs	p.L270fs	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	270					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.K271fs*4(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TAGAGGCTTTGAGGAGGCGAAA	0.515																																																1	Insertion - Frameshift(1)	ovary(1)	1																																								111765515	SO:0001589	frameshift_variant	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.810dupT	1.37:g.111963992_111963992dupA	ENSP00000358747:p.Leu270fs		111765514	A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	CCDS834.1																																																																																				0.515	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		A	111963992	-	A	111963991	7	5	58	1	0	1	1	0	0	0	0	0	11325	1277	45	0	1242	0	OVGP1	1	111963991	Frame_Shift_Ins	INS	-	TCGA-09-2056-01B-01W-0722-08	54774665	111963991	137286630	3	2907											
PI4KB	5298	broad.mit.edu	37	1	151274713	151274713	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr1:151274713G>C	ENST00000368873.1	-	7	1750	c.1582C>G	c.(1582-1584)Cct>Gct	p.P528A	RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000271657.5_Missense_Mutation_p.P540A|PI4KB_ENST00000529142.1_Missense_Mutation_p.P196A|PI4KB_ENST00000368872.1_Missense_Mutation_p.P513A|PI4KB_ENST00000368875.2_Missense_Mutation_p.P540A|PI4KB_ENST00000368874.4_Missense_Mutation_p.P513A			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	528					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.P540A(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGCAGAAGGATCTTCTGGG	0.532																																					Colon(154;765 1838 9854 28443 37492)											1	Substitution - Missense(1)	ovary(1)	1											152	147	148					1																	151274713		2203	4300	6503	149541337	SO:0001583	missense	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1582C>G	1.37:g.151274713G>C	ENSP00000357867:p.Pro528Ala		149541337	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	G	32	5.106670	0.94292	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872	T;T;T;T;T;T	0.73897	-0.77;-0.78;-0.78;-0.79;-0.52;-0.77	5.0	5.0	0.66597	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.972;1.0;1.0	P;D;D	0.97110	0.771;1.0;1.0	D	0.85583	0.1241	10	0.51188	T	0.08	-10.1944	17.0179	0.86424	0.0:0.0:1.0:0.0	.	528;513;196	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	A	513;540;540;528;196;513	ENSP00000357868:P513A;ENSP00000357869:P540A;ENSP00000271657:P540A;ENSP00000357867:P528A;ENSP00000433149:P196A;ENSP00000357866:P513A	ENSP00000271657:P540A	P	-	1	0	PI4KB	149541337	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.149000	0.94659	2.598000	0.87819	0.462000	0.41574	CCT		0.532	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		C	151274713	G	C	151274713	3	2	58	1	0	0	0	0	1	0	0	0	11874	1174	41	3	892	3	PI4KB	1	151274713	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	39310722	151274713	97975908	4	2908											
CD5L	922	broad.mit.edu	37	1	157803128	157803128	+	Missense_Mutation	SNP	C	C	A	rs555822563		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr1:157803128C>A	ENST00000368174.4	-	5	989	c.893G>T	c.(892-894)cGg>cTg	p.R298L	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	298	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.R298L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATAGCATTTCCGGTCTCTGAA	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											110	113	112					1																	157803128		2203	4300	6503	156069752	SO:0001583	missense	922			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.893G>T	1.37:g.157803128C>A	ENSP00000357156:p.Arg298Leu		156069752	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748321	0.30955	.	.	ENSG00000073754	ENST00000368174	T	0.35421	1.31	5.06	2.05	0.26809	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.518270	0.17576	N	0.169301	T	0.19167	0.0460	L	0.48877	1.53	0.09310	N	1	D	0.55800	0.973	P	0.49421	0.61	T	0.04579	-1.0941	10	0.52906	T	0.07	.	6.4201	0.21738	0.0:0.6888:0.0:0.3112	.	298	O43866	CD5L_HUMAN	L	298	ENSP00000357156:R298L	ENSP00000357156:R298L	R	-	2	0	CD5L	156069752	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-2.028000	0.01431	0.261000	0.21753	0.655000	0.94253	CGG		0.582	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		A	157803128	C	A	157803128	3	1	58	1	0	0	0	0	1	0	0	0	3027	652	23	3	158	3	CD5L	1	157803128	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	6528415	157803128	91447493	5	2909											
OR10T2	128360	broad.mit.edu	37	1	158369007	158369007	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr1:158369007C>T	ENST00000334438.1	-	1	249	c.250G>A	c.(250-252)Gtc>Atc	p.V84I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V84I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGCAGGTGGACCAGCAGCTGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											105	103	104					1																	158369007		2203	4300	6503	156635631	SO:0001583	missense	128360			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.250G>A	1.37:g.158369007C>T	ENSP00000334115:p.Val84Ile		156635631	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	6.114	0.389357	0.11581	.	.	ENSG00000186306	ENST00000334438	T	0.17054	2.3	4.56	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	0.449907	0.16306	N	0.220229	T	0.02688	0.0081	L	0.31664	0.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45977	-0.9224	10	0.19590	T	0.45	.	3.3636	0.07196	0.1775:0.507:0.0:0.3155	.	84	Q8NGX3	O10T2_HUMAN	I	84	ENSP00000334115:V84I	ENSP00000334115:V84I	V	-	1	0	OR10T2	156635631	0.000000	0.05858	0.685000	0.30070	0.970000	0.65996	-2.693000	0.00829	0.140000	0.18849	-0.133000	0.14855	GTC		0.507	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		T	158369007	C	T	158369007	3	4	58	1	0	0	0	0	1	0	0	0	10919	507	18	2	696	2	OR10T2	1	158369007	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	565879	158369007	90881614	6	2910											
FAM71A	149647	broad.mit.edu	37	1	212798536	212798536	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr1:212798536A>T	ENST00000294829.3	+	1	748	c.317A>T	c.(316-318)aAg>aTg	p.K106M	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	106						nucleus (GO:0005634)		p.K106M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAGGCCACCAAGAGAAAAAAA	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											62	64	63					1																	212798536		2203	4300	6503	210865159	SO:0001583	missense	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.317A>T	1.37:g.212798536A>T	ENSP00000294829:p.Lys106Met		210865159	Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.527345	0.27299	.	.	ENSG00000162771	ENST00000294829	T	0.04603	3.59	4.53	2.14	0.27477	.	1.759490	0.03403	N	0.203647	T	0.20414	0.0491	M	0.80028	2.48	0.09310	N	1	D	0.76494	0.999	D	0.64595	0.927	T	0.02632	-1.1131	10	0.72032	D	0.01	-11.0907	4.8562	0.13561	0.7143:0.1873:0.0983:0.0	.	106	Q8IYT1	FA71A_HUMAN	M	106	ENSP00000294829:K106M	ENSP00000294829:K106M	K	+	2	0	FAM71A	210865159	0.051000	0.20477	0.024000	0.17045	0.007000	0.05969	0.390000	0.20768	0.326000	0.23384	0.455000	0.32223	AAG		0.547	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		T	212798536	A	T	212798536	3	4	58	1	0	0	0	0	1	0	0	0	5607	72	3	5	319	5	FAM71A	1	212798536	Missense_Mutation	SNP	A	TCGA-09-2056-01B-01W-0722-08	54429529	212798536	36452085	7	2911											
USH2A	7399	broad.mit.edu	37	1	215848347	215848347	+	Silent	SNP	C	C	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr1:215848347C>T	ENST00000307340.3	-	63	13292	c.12906G>A	c.(12904-12906)agG>agA	p.R4302R	USH2A_ENST00000366943.2_Silent_p.R4302R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4302	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R4302R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCATTTCATTCCTTTGAAGCC	0.403										HNSCC(13;0.011)																																						1	Substitution - coding silent(1)	ovary(1)	1											100	98	99					1																	215848347		2203	4300	6503	213914970	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12906G>A	1.37:g.215848347C>T			213914970	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215848347	C	T	215848347	2	4	58	1	0	0	0	0	0	0	0	1	17036	854	30	2		2	USH2A	1	215848347	Silent	SNP	C	TCGA-09-2056-01B-01W-0722-08	3049811	215848347	33402274	8	2912											
TRIM58	25893	broad.mit.edu	37	1	248039704	248039704	+	Silent	SNP	G	G	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr1:248039704G>A	ENST00000366481.3	+	6	1422	c.1374G>A	c.(1372-1374)ttG>ttA	p.L458L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L458L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTATCTTGCCACCCACAA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	1											120	114	116					1																	248039704		2203	4300	6503	246106327	SO:0001819	synonymous_variant	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1374G>A	1.37:g.248039704G>A			246106327	Q6B0H9	Silent	SNP	ENST00000366481.3	37	CCDS1636.1																																																																																				0.418	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		A	248039704	G	A	248039704	2	1	58	1	0	0	0	0	0	0	0	1	16531	1310	46	2		2	TRIM58	1	248039704	Silent	SNP	G	TCGA-09-2056-01B-01W-0722-08	32191357	248039704	1210917	9	2913											
PLB1	151056	broad.mit.edu	37	2	28771751	28771751	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr2:28771751G>A	ENST00000327757.5	+	15	1005	c.961G>A	c.(961-963)Gag>Aag	p.E321K	PLB1_ENST00000422425.2_Missense_Mutation_p.E332K|PLB1_ENST00000329020.6_Missense_Mutation_p.E9K	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	321	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.E321K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGAGAAAGATGAGCCATTGAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											84	77	80					2																	28771751		2203	4300	6503	28625255	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.961G>A	2.37:g.28771751G>A	ENSP00000330442:p.Glu321Lys		28625255	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.118|7.118	0.577344|0.577344	0.13686|0.13686	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020|ENST00000404858	T;T;T;T|.	0.13420|.	2.66;2.65;2.59;2.61|.	5.85|5.85	4.85|4.85	0.62838|0.62838	.|.	0.511052|.	0.21331|.	N|.	0.076290|.	T|T	0.59487|0.59487	0.2197|0.2197	L|L	0.53617|0.53617	1.68|1.68	0.53688|0.53688	D|D	0.999977|0.999977	B;B;B|.	0.33512|.	0.164;0.007;0.415|.	B;B;B|.	0.38264|.	0.098;0.02;0.269|.	T|T	0.57087|0.57087	-0.7871|-0.7871	10|5	0.06365|.	T|.	0.9|.	-11.1153|-11.1153	8.7775|8.7775	0.34771|0.34771	0.1284:0.0:0.8716:0.0|0.1284:0.0:0.8716:0.0	.|.	332;9;321|.	Q6P1J6-3;Q6P1J6-2;Q6P1J6|.	.;.;PLB1_HUMAN|.	K|I	321;332;31;9|330	ENSP00000330442:E321K;ENSP00000416440:E332K;ENSP00000392493:E31K;ENSP00000330729:E9K|.	ENSP00000330442:E321K|.	E|M	+|+	1|3	0|0	PLB1|PLB1	28625255|28625255	0.941000|0.941000	0.31946|0.31946	0.247000|0.247000	0.24249|0.24249	0.029000|0.029000	0.11900|0.11900	1.774000|1.774000	0.38573|0.38573	1.225000|1.225000	0.43566|0.43566	0.561000|0.561000	0.74099|0.74099	GAG|ATG		0.532	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			A	28771751	G	A	28771751	3	1	58	1	0	0	0	0	1	0	0	0	12024	1291	45	2	1052	2	PLB1	2	28771751	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08		28771751	214427622	10	2914											
NLRC4	58484	broad.mit.edu	37	2	32477582	32477582	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr2:32477582G>T	ENST00000404025.2	-	4	656	c.168C>A	c.(166-168)caC>caA	p.H56Q	NLRC4_ENST00000402280.1_Missense_Mutation_p.H56Q|NLRC4_ENST00000360906.5_Missense_Mutation_p.H56Q|NLRC4_ENST00000342905.6_Missense_Mutation_p.H56Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	56	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.H56Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCAAAATCATGTGAATGATCC	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											155	144	147					2																	32477582		2203	4300	6503	32331086	SO:0001583	missense	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.168C>A	2.37:g.32477582G>T	ENSP00000385090:p.His56Gln		32331086	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857235	0.32791	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.1	0.0842	0.14436	DEATH-like (2);Caspase Recruitment (2);	0.128238	0.32218	N	0.006405	T	0.11665	0.0284	L	0.29908	0.895	0.32602	N	0.525749	P;P	0.47677	0.899;0.857	B;B	0.40444	0.221;0.329	T	0.28138	-1.0053	9	0.25106	T	0.35	-7.9223	6.7953	0.23722	0.5699:0.0:0.4301:0.0	.	56;56	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	Q	56	ENSP00000354159:H56Q;ENSP00000385428:H56Q;ENSP00000339666:H56Q;ENSP00000385090:H56Q	ENSP00000339666:H56Q	H	-	3	2	NLRC4	32331086	0.186000	0.23225	0.670000	0.29842	0.185000	0.23345	-0.189000	0.09629	0.126000	0.18424	0.411000	0.27672	CAC		0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		T	32477582	G	T	32477582	3	4	58	1	0	0	0	0	1	0	0	0	10469	1368	48	3	2934	3	NLRC4	2	32477582	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	3705831	32477582	210721791	11	2915											
LRP1B	53353	broad.mit.edu	37	2	141571340	141571340	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr2:141571340A>G	ENST00000389484.3	-	32	6216	c.5245T>C	c.(5245-5247)Tgg>Cgg	p.W1749R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1749					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.W1749R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAACTGATCCAATAAAGCTTG	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											141	125	130					2																	141571340		2203	4300	6503	141287810	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5245T>C	2.37:g.141571340A>G	ENSP00000374135:p.Trp1749Arg		141287810	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649494	0.67358	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91686	-2.89	5.93	5.93	0.95920	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97362	0.9137	H	0.95437	3.67	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.98481	1.0605	10	0.87932	D	0	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	1749	Q9NZR2	LRP1B_HUMAN	R	1749;1687	ENSP00000374135:W1749R	ENSP00000374135:W1749R	W	-	1	0	LRP1B	141287810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.282000	0.95840	2.263000	0.75096	0.533000	0.62120	TGG		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141571340	A	G	141571340	3	3	58	1	0	0	0	0	1	0	0	0	8955	130	5	4	8794	4	LRP1B	2	141571340	Missense_Mutation	SNP	A	TCGA-09-2056-01B-01W-0722-08	109093758	141571340	101628033	12	2916											
RIF1	55183	broad.mit.edu	37	2	152314273	152314273	+	Splice_Site	SNP	A	A	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr2:152314273A>G	ENST00000243326.5	+	23	3135		c.e23-1		RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1						fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.?(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CGTTTTTCCTAGTTAGAAAAG	0.294																																																1	Unknown(1)	ovary(1)	2											55	55	55					2																	152314273		2203	4298	6501	152022519	SO:0001630	splice_region_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2653-1A>G	2.37:g.152314273A>G			152022519	A0AVS0|Q9NS16	Splice_Site	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543273	0.86022	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2196	0.82251	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIF1	152022519	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.407000	0.90218	2.308000	0.77769	0.533000	0.62120	.		0.294	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		Intron	G	152314273	A	G	152314273	5	3	58	1	0	0	0	0	0	0	1	0	13362	434	15	4	2741	4	RIF1	2	152314273	Splice_Site	SNP	A	TCGA-09-2056-01B-01W-0722-08	10742933	152314273	90885100	13	2917											
TTN	7273	broad.mit.edu	37	2	179650397	179650397	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr2:179650397G>C	ENST00000591111.1	-	15	2667	c.2443C>G	c.(2443-2445)Cac>Gac	p.H815D	TTN_ENST00000342175.6_Missense_Mutation_p.H769D|TTN_ENST00000342992.6_Missense_Mutation_p.H815D|TTN_ENST00000359218.5_Missense_Mutation_p.H769D|TTN_ENST00000460472.2_Missense_Mutation_p.H769D|TTN_ENST00000589042.1_Missense_Mutation_p.H815D|TTN_ENST00000360870.5_Missense_Mutation_p.H815D			Q8WZ42	TITIN_HUMAN	titin	33646					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H815D(2)|p.H769D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTAAAGTGAGGGCTAGCT	0.378																																																3	Substitution - Missense(3)	ovary(3)	2											159	156	157					2																	179650397		2203	4300	6503	179358642	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2443C>G	2.37:g.179650397G>C	ENSP00000465570:p.His815Asp		179358642	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.78	2.932973	0.52866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68181	-0.31;-0.08;-0.11;-0.12;0.12	5.73	5.73	0.89815	Ribonuclease H-like (1);	.	.	.	.	T	0.76528	0.4000	L	0.32530	0.975	0.40100	D	0.976366	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.991;0.991;0.991;0.991;0.999	T	0.78247	-0.2278	9	0.87932	D	0	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	769;769;769;815;815	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	815;769;769;769;769;815	ENSP00000343764:H815D;ENSP00000434586:H769D;ENSP00000340554:H769D;ENSP00000352154:H769D;ENSP00000354117:H815D	ENSP00000340554:H769D	H	-	1	0	TTN	179358642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.710000	0.84655	2.854000	0.98071	0.655000	0.94253	CAC		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179650397	G	C	179650397	3	2	58	1	0	0	0	0	1	0	0	0	16735	1290	45	3	108937	3	TTN	2	179650397	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	27336124	179650397	63548976	14	2918											
MYLK	4638	broad.mit.edu	37	3	123471367	123471367	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr3:123471367G>C	ENST00000475616.1	-	2	183	c.184C>G	c.(184-186)Ccc>Gcc	p.P62A	MYLK_ENST00000360304.3_Missense_Mutation_p.P62A|MYLK_ENST00000359169.1_Missense_Mutation_p.P62A|MYLK_ENST00000346322.5_Missense_Mutation_p.P62A|MYLK_ENST00000360772.3_Missense_Mutation_p.P62A			Q15746	MYLK_HUMAN	myosin light chain kinase	62	Ig-like C2-type 1.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.P62A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCACCTGGGGCTCTGGGTAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	3											26	26	26					3																	123471367		2203	4300	6503	124954057	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.184C>G	3.37:g.123471367G>C	ENSP00000418335:p.Pro62Ala		124954057	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614342	0.87359	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616;ENST00000360367	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87055	0.6082	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.983;0.971;0.999;0.971;1.0	D	0.87657	0.2532	9	0.46703	T	0.11	.	19.2624	0.93973	0.0:0.0:1.0:0.0	.	62;62;62;62;62;62;62	Q15746-6;Q15746-5;D3DN97;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;.;MYLK_HUMAN	A	62	ENSP00000354004:P62A;ENSP00000353452:P62A;ENSP00000352088:P62A;ENSP00000320622:P62A;ENSP00000418335:P62A	ENSP00000320622:P62A	P	-	1	0	MYLK	124954057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.468000	0.73551	2.578000	0.87016	0.655000	0.94253	CCC		0.532	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		C	123471367	G	C	123471367	3	2	58	1	0	0	0	0	1	0	0	0	10056	1203	42	3	5680	3	MYLK	3	123471367	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08		123471367	74551063	15	2919											
COPB2	9276	broad.mit.edu	37	3	139077948	139077949	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	TG	TG	-	-	TG	TG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr3:139077948_139077949delTG	ENST00000333188.5	-	19	2556_2557	c.2375_2376delCA	c.(2374-2376)acafs	p.T792fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.T763fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	792					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.T792fs*3(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCATACTCTGTTGGGTCAGC	0.431																																																1	Deletion - Frameshift(1)	ovary(1)	3																																								140560639	SO:0001589	frameshift_variant	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2375_2376delCA	3.37:g.139077948_139077949delTG	ENSP00000329419:p.Thr792fs		140560638	B4DZI8	Frame_Shift_Del	DEL	ENST00000333188.5	37	CCDS3108.1																																																																																				0.431	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		-	139077949	TG	-	139077948	7	5	58	1	0	1	0	1	0	0	0	0	3729	1567	55	0	360	0	COPB2	3	139077948	Frame_Shift_Del	DEL	TG	TCGA-09-2056-01B-01W-0722-08	15606581	139077948	58944482	16	2920											
CHST2	9435	broad.mit.edu	37	3	142839811	142839811	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr3:142839811C>G	ENST00000309575.3	+	2	1537	c.153C>G	c.(151-153)ttC>ttG	p.F51L		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	51					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.F51L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TGAAGGTGTTCCGTAGGAAGG	0.687																																																1	Substitution - Missense(1)	ovary(1)	3											22	16	18					3																	142839811		2182	4269	6451	144322501	SO:0001583	missense	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.153C>G	3.37:g.142839811C>G	ENSP00000307911:p.Phe51Leu		144322501	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	6.936	0.542367	0.13250	.	.	ENSG00000175040	ENST00000309575	D	0.95622	-3.76	3.4	1.57	0.23409	.	0.076281	0.52532	U	0.000074	D	0.86347	0.5911	N	0.11560	0.145	0.37464	D	0.915331	B	0.10296	0.003	B	0.04013	0.001	T	0.75360	-0.3345	10	0.18276	T	0.48	-0.8334	7.745	0.28864	0.0:0.782:0.0:0.218	.	51	Q9Y4C5	CHST2_HUMAN	L	51	ENSP00000307911:F51L	ENSP00000307911:F51L	F	+	3	2	CHST2	144322501	0.066000	0.20996	1.000000	0.80357	0.272000	0.26649	-0.488000	0.06497	0.161000	0.19458	-0.379000	0.06801	TTC		0.687	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		G	142839811	C	G	142839811	3	3	58	1	0	0	0	0	1	0	0	0	3404	854	30	3	155	3	CHST2	3	142839811	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	3761863	142839811	55182619	17	2921											
SLITRK3	22865	broad.mit.edu	37	3	164906124	164906124	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr3:164906124G>A	ENST00000475390.1	-	2	2938	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	SLITRK3_ENST00000241274.3_Missense_Mutation_p.T832M			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	832					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.T832M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGATTCACCGTCACTATGGT	0.552										HNSCC(40;0.11)																																						1	Substitution - Missense(1)	ovary(1)	3											106	104	105					3																	164906124		2203	4300	6503	166388818	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2495C>T	3.37:g.164906124G>A	ENSP00000420091:p.Thr832Met		166388818	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715815	0.48622	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.58506	0.33;0.33	5.33	5.33	0.75918	.	0.000000	0.38897	N	0.001521	T	0.64616	0.2614	N	0.19112	0.55	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.68758	-0.5324	10	0.72032	D	0.01	-10.0278	17.9523	0.89057	0.0:0.0:1.0:0.0	.	832	O94933	SLIK3_HUMAN	M	832	ENSP00000420091:T832M;ENSP00000241274:T832M	ENSP00000241274:T832M	T	-	2	0	SLITRK3	166388818	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	3.418000	0.52721	2.778000	0.95560	0.655000	0.94253	ACG		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		A	164906124	G	A	164906124	3	1	58	1	0	0	0	0	1	0	0	0	14747	1145	40	1	442	1	SLITRK3	3	164906124	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	22066313	164906124	33116306	18	2922											
KIT	3815	broad.mit.edu	37	4	55573316	55573316	+	Silent	SNP	C	C	T	rs148594615		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr4:55573316C>T	ENST00000288135.5	+	6	1075	c.978C>T	c.(976-978)aaC>aaT	p.N326N		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	326	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N326N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATTTGTAAACGATGGAGAAA	0.333		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	1	Substitution - coding silent(1)	ovary(1)	4						T	,	3,4403	6.2+/-15.9	0,3,2200	82	74	77		978,978	-11.3	0	4	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIT	NM_000222.2,NM_001093772.1	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	326/977,326/973	55573316	3,13003	2203	4300	6503	55268073	SO:0001819	synonymous_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.978C>T	4.37:g.55573316C>T			55268073	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	CCDS3496.1																																																																																				0.333	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			T	55573316	C	T	55573316	2	4	58	1	0	0	0	0	0	0	0	1	8329	535	19	1		1	KIT	4	55573316	Silent	SNP	C	TCGA-09-2056-01B-01W-0722-08		55573316	135580960	19	2923											
NAF1	92345	broad.mit.edu	37	4	164067004	164067004	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr4:164067004G>C	ENST00000274054.2	-	4	840	c.647C>G	c.(646-648)tCt>tGt	p.S216C	NAF1_ENST00000422287.2_Missense_Mutation_p.S216C	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	216					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S216C(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTAGTCATAGATTCAATTAT	0.264																																																1	Substitution - Missense(1)	ovary(1)	4											30	30	30					4																	164067004		2192	4278	6470	164286454	SO:0001583	missense	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.647C>G	4.37:g.164067004G>C	ENSP00000274054:p.Ser216Cys		164286454	D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791933	0.70452	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.37584	1.19;1.19	5.22	5.22	0.72569	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.145166	0.47093	D	0.000245	T	0.64951	0.2645	M	0.83483	2.645	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70464	-0.4864	10	0.72032	D	0.01	-23.0913	17.7519	0.88436	0.0:0.0:1.0:0.0	.	216;216	E9PAZ2;Q96HR8	.;NAF1_HUMAN	C	216	ENSP00000408963:S216C;ENSP00000274054:S216C	ENSP00000274054:S216C	S	-	2	0	NAF1	164286454	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.886000	0.87288	2.422000	0.82143	0.460000	0.39030	TCT		0.264	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		C	164067004	G	C	164067004	3	2	58	1	0	0	0	0	1	0	0	0	10140	942	33	3	998	3	NAF1	4	164067004	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	108493688	164067004	27087272	20	2924											
CDH9	1007	broad.mit.edu	37	5	26902612	26902612	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr5:26902612T>A	ENST00000231021.4	-	7	1398	c.1226A>T	c.(1225-1227)gAt>gTt	p.D409V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D409V(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGCATCTGGATCGTATGCTGT	0.323																																					Melanoma(8;187 585 15745 40864 52829)											1	Substitution - Missense(1)	ovary(1)	5											101	94	97					5																	26902612		2203	4299	6502	26938369	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1226A>T	5.37:g.26902612T>A	ENSP00000231021:p.Asp409Val		26938369	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252494	0.80135	.	.	ENSG00000113100	ENST00000231021	T	0.75367	-0.93	5.62	5.62	0.85841	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92848	0.7725	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95852	0.8875	9	.	.	.	.	14.6446	0.68751	0.0:0.0:0.0:1.0	.	409	Q9ULB4	CADH9_HUMAN	V	409	ENSP00000231021:D409V	.	D	-	2	0	CDH9	26938369	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.671000	0.83941	2.139000	0.66308	0.528000	0.53228	GAT		0.323	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26902612	T	A	26902612	3	1	58	1	0	0	0	0	1	0	0	0	3117	1435	50	5	1167	5	CDH9	5	26902612	Missense_Mutation	SNP	T	TCGA-09-2056-01B-01W-0722-08		26902612	154012648	21	2925											
VCAN	1462	broad.mit.edu	37	5	82835617	82835617	+	Silent	SNP	T	T	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr5:82835617T>C	ENST00000265077.3	+	8	7360	c.6795T>C	c.(6793-6795)acT>acC	p.T2265T	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.T1278T|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2265	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T2265T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTTTACCTACTCTACCAACAG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	5											69	71	70					5																	82835617		2203	4300	6503	82871373	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6795T>C	5.37:g.82835617T>C			82871373	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.388	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82835617	T	C	82835617	2	2	58	1	0	0	0	0	0	0	0	1	17138	1538	54	4		4	VCAN	5	82835617	Silent	SNP	T	TCGA-09-2056-01B-01W-0722-08	55933005	82835617	98079643	22	2926											
FBN2	2201	broad.mit.edu	37	5	127645049	127645049	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr5:127645049G>A	ENST00000508053.1	-	47	6217	c.5243C>T	c.(5242-5244)aCt>aTt	p.T1748I	FBN2_ENST00000262464.4_Missense_Mutation_p.T1748I			P35556	FBN2_HUMAN	fibrillin 2	1748	TB 7.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T1748I(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTCTCACAAGTGGTTCCATT	0.383																																																1	Substitution - Missense(1)	ovary(1)	5											136	123	127					5																	127645049		2203	4300	6503	127672948	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5243C>T	5.37:g.127645049G>A	ENSP00000424571:p.Thr1748Ile		127672948	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342468	0.81911	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92699	-3.09;-3.09	4.85	4.85	0.62838	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000019	D	0.92815	0.7715	M	0.65498	2.005	0.42466	D	0.992803	B	0.33044	0.395	B	0.40602	0.334	D	0.93176	0.6570	10	0.72032	D	0.01	.	18.5272	0.90976	0.0:0.0:1.0:0.0	.	1748	P35556	FBN2_HUMAN	I	1748	ENSP00000262464:T1748I;ENSP00000424571:T1748I	ENSP00000262464:T1748I	T	-	2	0	FBN2	127672948	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.545000	0.82128	2.681000	0.91329	0.650000	0.86243	ACT		0.383	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127645049	G	A	127645049	3	1	58	1	0	0	0	0	1	0	0	0	5703	1029	36	2	3595	2	FBN2	5	127645049	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	44809432	127645049	53270211	23	2927											
PCDHB2	56133	broad.mit.edu	37	5	140474829	140474829	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr5:140474829C>A	ENST00000194155.4	+	1	603	c.455C>A	c.(454-456)aCt>aAt	p.T152N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T152N(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCTGGAACTACTTTCTTA	0.388																																																1	Substitution - Missense(1)	ovary(1)	5											29	31	30					5																	140474829		2196	4298	6494	140455013	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.455C>A	5.37:g.140474829C>A	ENSP00000194155:p.Thr152Asn		140455013	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	9.387	1.074529	0.20227	.	.	ENSG00000112852	ENST00000194155	T	0.57907	0.37	5.14	2.18	0.27775	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.60612	0.2282	H	0.94222	3.51	0.09310	N	1	B	0.28880	0.226	B	0.27262	0.078	T	0.61202	-0.7110	9	0.72032	D	0.01	.	6.7242	0.23346	0.1339:0.6618:0.1298:0.0745	.	152	Q9Y5E7	PCDB2_HUMAN	N	152	ENSP00000194155:T152N	ENSP00000194155:T152N	T	+	2	0	PCDHB2	140455013	0.000000	0.05858	0.998000	0.56505	0.561000	0.35649	1.067000	0.30616	1.272000	0.44329	-0.175000	0.13238	ACT		0.388	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		A	140474829	C	A	140474829	3	1	58	1	0	0	0	0	1	0	0	0	11542	565	20	3	457	3	PCDHB2	5	140474829	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	12829780	140474829	40440431	24	2928											
BTNL9	153579	broad.mit.edu	37	5	180486624	180486624	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr5:180486624C>T	ENST00000327705.9	+	11	1601	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	BTNL9_ENST00000376842.3_Missense_Mutation_p.A458V	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	457	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.A457V(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACTACGAGGCCGGAGAGCTG	0.682																																																1	Substitution - Missense(1)	ovary(1)	5											41	42	42					5																	180486624		2203	4300	6503	180419230	SO:0001583	missense	153579			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1370C>T	5.37:g.180486624C>T	ENSP00000330200:p.Ala457Val		180419230	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	c	12.02	1.813825	0.32053	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.69561	-0.41;-0.41	4.43	3.55	0.40652	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.247400	0.21017	U	0.081591	T	0.74520	0.3727	M	0.64567	1.98	0.09310	N	1	P	0.49253	0.921	D	0.64687	0.928	T	0.63346	-0.6658	10	0.59425	D	0.04	.	6.5597	0.22479	0.0:0.7154:0.183:0.1016	.	457	Q6UXG8	BTNL9_HUMAN	V	457;458	ENSP00000330200:A457V;ENSP00000366038:A458V	ENSP00000330200:A457V	A	+	2	0	BTNL9	180419230	0.013000	0.17824	0.005000	0.12908	0.002000	0.02628	0.677000	0.25262	0.999000	0.39023	0.449000	0.29647	GCC		0.682	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		T	180486624	C	T	180486624	3	4	58	1	0	0	0	0	1	0	0	0	1568	739	26	2	1408	2	BTNL9	5	180486624	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	40011795	180486624	428636	25	2929											
PGK2	5232	broad.mit.edu	37	6	49754597	49754597	+	Missense_Mutation	SNP	C	C	A	rs572935257		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr6:49754597C>A	ENST00000304801.3	-	1	456	c.304G>T	c.(304-306)Gca>Tca	p.A102S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	102					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.A102S(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCACTTCTGCGCCTACACAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	6											120	113	116					6																	49754597		2203	4300	6503	49862556	SO:0001583	missense	5232			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.304G>T	6.37:g.49754597C>A	ENSP00000305995:p.Ala102Ser		49862556	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	0.104	-1.147467	0.01714	.	.	ENSG00000170950	ENST00000304801	D	0.91792	-2.91	4.09	-8.18	0.01053	Phosphoglycerate kinase, N-terminal (1);	0.641145	0.17456	N	0.173605	T	0.57125	0.2032	N	0.16233	0.39	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.52510	-0.8566	10	0.38643	T	0.18	4.6424	0.51	0.00594	0.3466:0.1611:0.255:0.2373	.	102	P07205	PGK2_HUMAN	S	102	ENSP00000305995:A102S	ENSP00000305995:A102S	A	-	1	0	PGK2	49862556	0.001000	0.12720	0.000000	0.03702	0.168000	0.22595	-0.879000	0.04188	-3.510000	0.00150	-3.398000	0.00039	GCA		0.527	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			A	49754597	C	A	49754597	3	1	58	1	0	0	0	0	1	0	0	0	11791	768	27	3	953	3	PGK2	6	49754597	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08		49754597	121360470	26	2930											
CASP8AP2	9994	broad.mit.edu	37	6	90575717	90575717	+	RNA	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr6:90575717C>G	ENST00000551025.1	+	0	4145									caspase 8 associated protein 2									p.S903C(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAGAGTCAGTCTGATCTCAAT	0.294																																					Colon(187;1656 2025 17045 31481 39901)											1	Substitution - Missense(1)	ovary(1)	6											21	19	20					6																	90575717		1807	4072	5879	90632438			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90575717C>G			90632438		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.294	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		G	90575717	C	G	90575717	1	3	58	0	1	0	0	0	0	0	0	0	2678	913	32	3		3	CASP8AP2	6	90575717	RNA	SNP	C	TCGA-09-2056-01B-01W-0722-08	40821120	90575717	80539350	27	2931											
HOXA1	3198	broad.mit.edu	37	7	27134977	27134977	+	Silent	SNP	G	G	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr7:27134977G>T	ENST00000343060.4	-	1	616	c.555C>A	c.(553-555)gcC>gcA	p.A185A	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Intron|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	185					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A185A(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTGGTGGCTGGCGTGGAGAG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	7											77	86	83					7																	27134977		2203	4300	6503	27101502	SO:0001819	synonymous_variant	3198				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.555C>A	7.37:g.27134977G>T			27101502	A4D184|B2R8U7|O43363	Silent	SNP	ENST00000343060.4	37	CCDS5401.1																																																																																				0.557	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			T	27134977	G	T	27134977	2	4	58	1	0	0	0	0	0	0	0	1	7288	1335	47	3		3	HOXA1	7	27134977	Silent	SNP	G	TCGA-09-2056-01B-01W-0722-08		27134977	132003686	28	2932											
PSPH	5723	broad.mit.edu	37	7	56079455	56079455	+	Nonstop_Mutation	SNP	T	T	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr7:56079455T>A	ENST00000395471.3	-	8	1483	c.678A>T	c.(676-678)taA>taT	p.*226Y	PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_Nonstop_Mutation_p.*226Y			P78330	SERB_HUMAN	phosphoserine phosphatase	0					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.*226Y(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAATGGATGTTATTCTTCCA	0.378																																																1	Nonstop extension(1)	ovary(1)	7											108	90	96					7																	56079455		2203	4300	6503	56046949	SO:0001578	stop_lost	5723			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.678A>T	7.37:g.56079455T>A			56046949	B2RCR5|Q7Z3S5	Nonstop_Mutation	SNP	ENST00000395471.3	37	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	T	9.443	1.088693	0.20390	.	.	ENSG00000146733	ENST00000275605;ENST00000395471	.	.	.	4.68	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9986	0.24797	0.0:0.1789:0.0:0.8211	.	.	.	.	Y	226	.	.	X	-	3	2	PSPH	56046949	0.003000	0.15002	0.012000	0.15200	0.003000	0.03518	0.702000	0.25631	0.645000	0.30675	0.454000	0.30748	TAA		0.378	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		A	56079455	T	A	56079455	4	1	58	1	0	0	0	0	0	0	0	0	12720	1732	60	5	3	5	PSPH	7	56079455	Nonstop_Mutation	SNP	T	TCGA-09-2056-01B-01W-0722-08	28944478	56079455	103059208	29	2933											
GAL3ST4	79690	broad.mit.edu	37	7	99758526	99758526	+	Silent	SNP	C	C	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr7:99758526C>T	ENST00000360039.4	-	4	878	c.486G>A	c.(484-486)gcG>gcA	p.A162A	GAL3ST4_ENST00000426974.2_Silent_p.A100A|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.R61Q|GAL3ST4_ENST00000413800.1_Silent_p.A162A|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.R61Q|C7orf43_ENST00000457641.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	162					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.A162A(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCCAGAGCCGCTGGGTCTC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	7											47	48	48					7																	99758526		2196	4275	6471	99596462	SO:0001819	synonymous_variant	79690			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.486G>A	7.37:g.99758526C>T			99596462	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Silent	SNP	ENST00000360039.4	37	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667038	0.29604	.	.	ENSG00000197093	ENST00000423751;ENST00000411994	.	.	.	5.35	-10.2	0.00374	.	.	.	.	.	T	0.43100	0.1232	.	.	.	0.33914	D	0.64007	.	.	.	.	.	.	T	0.55823	-0.8080	5	0.41790	T	0.15	-5.7921	7.5206	0.27626	0.0918:0.1034:0.085:0.7199	.	.	.	.	Q	61	.	ENSP00000414733:R61Q	R	-	2	0	GAL3ST4	99596462	0.000000	0.05858	0.487000	0.27428	0.933000	0.57130	-2.672000	0.00843	-2.290000	0.00667	-0.535000	0.04281	CGG		0.542	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		T	99758526	C	T	99758526	2	4	58	1	0	0	0	0	0	0	0	1	6200	639	23	1		1	GAL3ST4	7	99758526	Silent	SNP	C	TCGA-09-2056-01B-01W-0722-08	43679071	99758526	59380137	30	2934											
NUP205	23165	broad.mit.edu	37	7	135269580	135269580	+	Splice_Site	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr7:135269580C>G	ENST00000285968.6	+	8	1069	c.1043C>G	c.(1042-1044)gCt>gGt	p.A348G	NUP205_ENST00000440390.2_Splice_Site_p.A142G	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	348					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.A348G(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTGTTTCTAGCTCTGGCAGAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	7											66	58	60					7																	135269580		2203	4300	6503	134920120	SO:0001630	splice_region_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1043-1C>G	7.37:g.135269580C>G			134920120	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876997	0.51801	.	.	ENSG00000155561	ENST00000285968;ENST00000440390	T;T	0.32023	1.47;1.47	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.31136	0.0787	L	0.55481	1.735	0.80722	D	1	P	0.34934	0.476	B	0.32393	0.145	T	0.04413	-1.0953	9	.	.	.	.	17.6206	0.88080	0.0:1.0:0.0:0.0	.	348	Q92621	NU205_HUMAN	G	348;142	ENSP00000285968:A348G;ENSP00000401983:A142G	.	A	+	2	0	NUP205	134920120	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	4.899000	0.63245	2.586000	0.87340	0.591000	0.81541	GCT		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		Missense_Mutation	G	135269580	C	G	135269580	5	3	58	1	0	0	0	0	0	0	1	0	10759	811	28	3	1073	3	NUP205	7	135269580	Splice_Site	SNP	C	TCGA-09-2056-01B-01W-0722-08	35511054	135269580	23869083	31	2935											
GIMAP4	55303	broad.mit.edu	37	7	150269275	150269275	+	Silent	SNP	C	C	T	rs367979869		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr7:150269275C>T	ENST00000255945.2	+	3	292	c.117C>T	c.(115-117)acC>acT	p.T39T	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.T53T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	39	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.T39T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGTAAAACCGGAGCAGGAA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	7						C		0,4406		0,0,2203	72	78	76		117	-3.8	1	7		76	1,8599		0,1,4299	no	coding-synonymous	GIMAP4	NM_018326.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		39/330	150269275	1,13005	2203	4300	6503	149900208	SO:0001819	synonymous_variant	55303			AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.117C>T	7.37:g.150269275C>T			149900208		Silent	SNP	ENST00000255945.2	37	CCDS5904.1																																																																																				0.448	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		T	150269275	C	T	150269275	2	4	58	1	0	0	0	0	0	0	0	1	6381	639	23	1		1	GIMAP4	7	150269275	Silent	SNP	C	TCGA-09-2056-01B-01W-0722-08	14999695	150269275	8869388	32	2936											
CSPP1	79848	broad.mit.edu	37	8	68071346	68071346	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr8:68071346G>C	ENST00000262210.5	+	19	2528	c.2497G>C	c.(2497-2499)Gac>Cac	p.D833H	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.D488H	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	868	Glu-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.D833H(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTGTGAAAGAGACAATTTGAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	8											113	110	111					8																	68071346		1840	4086	5926	68233900	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2497G>C	8.37:g.68071346G>C	ENSP00000262210:p.Asp833His		68233900	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807561	0.31961	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.78364	-1.17;1.48;1.48	4.65	2.71	0.32032	.	0.069188	0.56097	D	0.000035	T	0.55609	0.1931	N	0.08118	0	0.26968	N	0.965646	B;P;B	0.36315	0.25;0.547;0.115	B;B;B	0.34590	0.086;0.186;0.093	T	0.57533	-0.7795	10	0.72032	D	0.01	-12.2344	8.9673	0.35885	0.09:0.154:0.7561:0.0	.	488;833;868	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	H	833;868;488;488	ENSP00000262210:D833H;ENSP00000415782:D488H;ENSP00000430092:D488H	ENSP00000262210:D833H	D	+	1	0	CSPP1	68233900	1.000000	0.71417	0.996000	0.52242	0.504000	0.33889	2.669000	0.46825	2.302000	0.77476	0.557000	0.71058	GAC		0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		C	68071346	G	C	68071346	3	2	58	1	0	0	0	0	1	0	0	0	3962	942	33	3	2684	3	CSPP1	8	68071346	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08		68071346	78292676	33	2937											
SULF1	23213	broad.mit.edu	37	8	70498683	70498683	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr8:70498683C>G	ENST00000260128.4	+	7	1221	c.504C>G	c.(502-504)ttC>ttG	p.F168L	SULF1_ENST00000419716.3_Missense_Mutation_p.F168L|SULF1_ENST00000402687.4_Missense_Mutation_p.F168L|SULF1_ENST00000458141.2_Missense_Mutation_p.F168L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	168					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.F168L(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTCTCGCTTCTATAATTACA	0.393																																																1	Substitution - Missense(1)	ovary(1)	8											103	108	106					8																	70498683		2203	4300	6503	70661237	SO:0001583	missense	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.504C>G	8.37:g.70498683C>G	ENSP00000260128:p.Phe168Leu		70661237	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769502	0.90020	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716;ENST00000525999	D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95	5.86	5.86	0.93980	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	M	0.76002	2.32	0.80722	D	1	B	0.20550	0.046	B	0.16289	0.015	D	0.91800	0.5451	10	0.87932	D	0	.	10.5418	0.45037	0.0:0.8572:0.0:0.1428	.	168	Q8IWU6	SULF1_HUMAN	L	168	ENSP00000403040:F168L;ENSP00000260128:F168L;ENSP00000385704:F168L;ENSP00000390315:F168L;ENSP00000431753:F168L	ENSP00000260128:F168L	F	+	3	2	SULF1	70661237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.715000	0.47210	2.774000	0.95407	0.650000	0.86243	TTC		0.393	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		G	70498683	C	G	70498683	3	3	58	1	0	0	0	0	1	0	0	0	15372	912	32	3	514	3	SULF1	8	70498683	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	2427337	70498683	75865339	34	2938											
RNF19A	25897	broad.mit.edu	37	8	101282199	101282199	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr8:101282199A>T	ENST00000519449.1	-	5	1242	c.926T>A	c.(925-927)aTa>aAa	p.I309K	RNF19A_ENST00000341084.2_Missense_Mutation_p.I309K|RNF19A_ENST00000523255.1_5'Flank	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	309					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I309K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATTCATCTTTATTATATAAGC	0.348																																																1	Substitution - Missense(1)	ovary(1)	8											119	109	113					8																	101282199		2203	4300	6503	101351375	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.926T>A	8.37:g.101282199A>T	ENSP00000428968:p.Ile309Lys		101351375	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.966983	0.92855	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	T;T	0.64085	-0.08;-0.08	5.68	5.68	0.88126	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.74558	0.3732	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75110	-0.3433	10	0.49607	T	0.09	.	15.6165	0.76773	1.0:0.0:0.0:0.0	.	309	Q9NV58	RN19A_HUMAN	K	309	ENSP00000428968:I309K;ENSP00000342667:I309K	ENSP00000342667:I309K	I	-	2	0	RNF19A	101351375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.253000	0.95501	2.176000	0.68965	0.477000	0.44152	ATA		0.348	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		T	101282199	A	T	101282199	3	4	58	1	0	0	0	0	1	0	0	0	13473	449	16	5	1618	5	RNF19A	8	101282199	Missense_Mutation	SNP	A	TCGA-09-2056-01B-01W-0722-08	30783516	101282199	45081823	35	2939											
ZFPM2	23414	broad.mit.edu	37	8	106815707	106815714	+	Frame_Shift_Del	DEL	AACTTTAT	AACTTTAT	-			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	AACTTTAT	AACTTTAT	-	-	AACTTTAT	AACTTTAT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr8:106815707_106815714delAACTTTAT	ENST00000407775.2	+	8	3647_3654	c.3397_3404delAACTTTAT	c.(3397-3405)aactttatafs	p.NFI1133fs	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Frame_Shift_Del_p.NFI1001fs|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Frame_Shift_Del_p.NFI864fs|ZFPM2_ENST00000520492.1_Frame_Shift_Del_p.NFI1001fs|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1133					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.F1134fs>16(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAACCTTTCAAACTTTATAACTCACAAG	0.389																																																1	Deletion - Frameshift(1)	ovary(1)	8																																								106884890	SO:0001589	frameshift_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3397_3404delAACTTTAT	8.37:g.106815707_106815714delAACTTTAT	ENSP00000384179:p.Asn1133fs		106884883	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Frame_Shift_Del	DEL	ENST00000407775.2	37	CCDS47908.1																																																																																				0.389	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			-	106815714	AACTTTAT	-	106815707	7	5	58	1	0	1	0	1	0	0	0	0	17658	14	1	0	3427	0	ZFPM2	8	106815707	Frame_Shift_Del	DEL	AACTTTAT	TCGA-09-2056-01B-01W-0722-08	5533508	106815707	39548315	36	2940											
PKHD1L1	93035	broad.mit.edu	37	8	110504192	110504192	+	Nonsense_Mutation	SNP	T	T	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr8:110504192T>G	ENST00000378402.5	+	62	10309	c.10205T>G	c.(10204-10206)tTa>tGa	p.L3402*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3402					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L3404*(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAAAAGATTTAAGTTCAACT	0.333										HNSCC(38;0.096)																																						1	Substitution - Nonsense(1)	ovary(1)	8											40	40	40					8																	110504192		1803	4073	5876	110573368	SO:0001587	stop_gained	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10205T>G	8.37:g.110504192T>G	ENSP00000367655:p.Leu3402*		110573368	Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562669	0.86335	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	5.61	-1.52	0.08637	.	0.763045	0.11952	N	0.513589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	5.0448	0.14477	0.1328:0.3372:0.0:0.53	.	.	.	.	X	3402;330	.	ENSP00000367655:L3402X	L	+	2	0	PKHD1L1	110573368	0.003000	0.15002	0.633000	0.29310	0.992000	0.81027	0.001000	0.13038	-0.237000	0.09739	0.460000	0.39030	TTA		0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		G	110504192	T	G	110504192	4	3	58	1	0	0	0	0	0	1	0	0	11972	1764	61	5	10451	5	PKHD1L1	8	110504192	Nonsense_Mutation	SNP	T	TCGA-09-2056-01B-01W-0722-08	3688485	110504192	35859830	37	2941											
UPF2	26019	broad.mit.edu	37	10	12039755	12039755	+	Splice_Site	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr10:12039755G>C	ENST00000356352.2	-	7	2233	c.1760C>G	c.(1759-1761)gCa>gGa	p.A587G	UPF2_ENST00000357604.5_Splice_Site_p.A587G|UPF2_ENST00000397053.2_Splice_Site_p.A587G			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	587	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.A587G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATCCATTGCTGCCTATTGGGA	0.343																																																1	Substitution - Missense(1)	ovary(1)	10											154	142	146					10																	12039755		2203	4300	6503	12079761	SO:0001630	splice_region_variant	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1759-1C>G	10.37:g.12039755G>C			12079761	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738378	0.89573	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.22945	1.93;1.93;1.93	5.7	5.7	0.88788	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.058100	0.64402	D	0.000002	T	0.58133	0.2101	M	0.89095	3.005	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.74674	0.971;0.984	T	0.57751	-0.7757	10	0.26408	T	0.33	.	19.4197	0.94716	0.0:0.0:1.0:0.0	.	557;587	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	G	587	ENSP00000348708:A587G;ENSP00000350221:A587G;ENSP00000380244:A587G	ENSP00000348708:A587G	A	-	2	0	UPF2	12079761	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.014000	0.93635	2.667000	0.90743	0.655000	0.94253	GCA		0.343	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		Missense_Mutation	C	12039755	G	C	12039755	5	2	58	1	0	0	0	0	0	0	1	0	17004	1333	46	3	2118	3	UPF2	10	12039755	Splice_Site	SNP	G	TCGA-09-2056-01B-01W-0722-08		12039755	123494992	38	2942											
WAPAL	23063	broad.mit.edu	37	10	88197356	88197356	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr10:88197356C>G	ENST00000298767.5	-	19	3989	c.3517G>C	c.(3517-3519)Gga>Cga	p.G1173R	WAPAL_ENST00000484070.1_5'UTR|WAPAL_ENST00000372075.1_Missense_Mutation_p.G385R|WAPAL_ENST00000263070.7_Missense_Mutation_p.G385R	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1173					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.G1173R(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CCAGTTGTTCCAACAGCACAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	10											77	70	72					10																	88197356		2203	4300	6503	88187336	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3517G>C	10.37:g.88197356C>G	ENSP00000298767:p.Gly1173Arg		88187336	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969720	0.74246	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T;T;T	0.33216	1.42;1.42;1.42	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	L	0.45581	1.43	0.80722	D	1	D;D;D;D	0.69078	0.975;0.972;0.975;0.997	P;P;P;D	0.65773	0.706;0.755;0.706;0.938	T	0.39643	-0.9604	10	0.56958	D	0.05	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	1167;1211;1173;1210	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	R	1258;1173;1258;385;385	ENSP00000298767:G1173R;ENSP00000361145:G385R;ENSP00000263070:G385R	ENSP00000263070:G385R	G	-	1	0	WAPAL	88187336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.520000	0.60524	2.808000	0.96608	0.655000	0.94253	GGA		0.373	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		G	88197356	C	G	88197356	3	3	58	1	0	0	0	0	1	0	0	0	17248	603	21	3	59	3	WAPAL	10	88197356	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	76157601	88197356	47337391	39	2943											
OPN4	94233	broad.mit.edu	37	10	88419730	88419730	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr10:88419730G>C	ENST00000241891.5	+	6	1046	c.879G>C	c.(877-879)aaG>aaC	p.K293N	OPN4_ENST00000372071.2_Missense_Mutation_p.K304N	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	293					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)	p.K304N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCGAGTGCAAGATGGCCAAGA	0.627																																																1	Substitution - Missense(1)	ovary(1)	10											149	102	118					10																	88419730		2203	4300	6503	88409710	SO:0001583	missense	94233			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.879G>C	10.37:g.88419730G>C	ENSP00000241891:p.Lys293Asn		88409710	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843728	0.71488	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.42900	0.96;0.96;0.96	5.24	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.71264	0.3319	H	0.97659	4.05	0.45979	D	0.998796	D;D;P	0.60575	0.988;0.963;0.953	D;P;P	0.64410	0.925;0.9;0.725	T	0.74147	-0.3759	9	0.87932	D	0	.	8.9886	0.36010	0.3288:0.0:0.6712:0.0	.	304;293;304	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	N	304;293;304	ENSP00000361141:K304N;ENSP00000241891:K293N;ENSP00000393132:K304N	ENSP00000241891:K293N	K	+	3	2	OPN4	88409710	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.641000	0.24720	0.158000	0.19367	0.650000	0.86243	AAG		0.627	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		C	88419730	G	C	88419730	3	2	58	1	0	0	0	0	1	0	0	0	10882	933	33	3	938	3	OPN4	10	88419730	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	222374	88419730	47115017	40	2944											
HPSE2	60495	broad.mit.edu	37	10	100904126	100904126	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr10:100904126T>A	ENST00000370552.3	-	3	538	c.479A>T	c.(478-480)aAa>aTa	p.K160I	HPSE2_ENST00000370549.1_Missense_Mutation_p.K160I|HPSE2_ENST00000370546.1_Missense_Mutation_p.K160I|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	160					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.K160I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCCTTTCTGTTTATCTAAGGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	10											101	101	101					10																	100904126		2203	4300	6503	100894116	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.479A>T	10.37:g.100904126T>A	ENSP00000359583:p.Lys160Ile		100894116	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648253	0.87958	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546	T;T;T	0.28666	7.09;1.6;7.09	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.060394	0.64402	D	0.000006	T	0.47488	0.1448	L	0.51422	1.61	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.984	P;P;P	0.61201	0.885;0.885;0.77	T	0.36939	-0.9727	10	0.46703	T	0.11	-5.7058	16.1498	0.81605	0.0:0.0:0.0:1.0	.	160;160;160	Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	I	160	ENSP00000359583:K160I;ENSP00000359580:K160I;ENSP00000359577:K160I	ENSP00000359577:K160I	K	-	2	0	HPSE2	100894116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.552000	0.82192	2.216000	0.71823	0.528000	0.53228	AAA		0.403	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		A	100904126	T	A	100904126	3	1	58	1	0	0	0	0	1	0	0	0	7345	1841	64	5	1377	5	HPSE2	10	100904126	Missense_Mutation	SNP	T	TCGA-09-2056-01B-01W-0722-08	12484396	100904126	34630621	41	2945											
OR51F2	119694	broad.mit.edu	37	11	4843561	4843561	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr11:4843561G>A	ENST00000322110.5	+	1	1011	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A316T(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTCAAAAGGCCATTATCAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	11											122	121	121					11																	4843561		2201	4298	6499	4800137	SO:0001583	missense	119694			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.946G>A	11.37:g.4843561G>A	ENSP00000323952:p.Ala316Thr		4800137	Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	6.513	0.462822	0.12402	.	.	ENSG00000176925	ENST00000322110	T	0.42131	0.98	4.71	4.71	0.59529	.	0.436640	0.16696	U	0.203360	T	0.31765	0.0807	L	0.46614	1.455	0.09310	N	1	B	0.32245	0.361	B	0.25140	0.058	T	0.11542	-1.0583	10	0.21540	T	0.41	.	10.3692	0.44044	0.0913:0.0:0.9087:0.0	.	316	Q8NH61	O51F2_HUMAN	T	316	ENSP00000323952:A316T	ENSP00000323952:A316T	A	+	1	0	OR51F2	4800137	0.371000	0.25056	0.475000	0.27278	0.207000	0.24258	1.430000	0.34914	2.598000	0.87819	0.561000	0.74099	GCC		0.373	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		A	4843561	G	A	4843561	3	1	58	1	0	0	0	0	1	0	0	0	11097	1203	42	2	948	2	OR51F2	11	4843561	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08		4843561	130162955	42	2946											
ACCS	84680	broad.mit.edu	37	11	44099401	44099401	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr11:44099401G>C	ENST00000263776.8	+	8	1095	c.661G>C	c.(661-663)Ggg>Cgg	p.G221R		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	221			G -> E (in a breast cancer sample; somatic mutation; dbSNP:rs35514614). {ECO:0000269|PubMed:16959974}.		biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.G221R(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CCAGGTCACTGGGCTAGACAC	0.542																																					Esophageal Squamous(158;148 1889 8077 23160 41213)											1	Substitution - Missense(1)	ovary(1)	11											69	58	62					11																	44099401		2203	4300	6503	44055977	SO:0001583	missense	84680			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.661G>C	11.37:g.44099401G>C	ENSP00000263776:p.Gly221Arg		44055977	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350822	0.41599	.	.	ENSG00000110455	ENST00000263776	T	0.64991	-0.13	5.23	5.23	0.72850	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.104529	0.64402	D	0.000003	T	0.56702	0.2003	L	0.41710	1.295	0.80722	D	1	B	0.27997	0.197	B	0.34242	0.178	T	0.51872	-0.8650	10	0.20519	T	0.43	-19.6139	16.5869	0.84729	0.0:0.0:1.0:0.0	.	221	Q96QU6	1A1L1_HUMAN	R	221	ENSP00000263776:G221R	ENSP00000263776:G221R	G	+	1	0	ACCS	44055977	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	5.945000	0.70226	2.450000	0.82876	0.655000	0.94253	GGG		0.542	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		C	44099401	G	C	44099401	3	2	58	1	0	0	0	0	1	0	0	0	133	1348	47	3	687	3	ACCS	11	44099401	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	39255840	44099401	90907115	43	2947											
MS4A1	931	broad.mit.edu	37	11	60230518	60230518	+	Missense_Mutation	SNP	G	G	T	rs370620216		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr11:60230518G>T	ENST00000534668.1	+	3	492	c.203G>T	c.(202-204)gGt>gTt	p.G68V	MS4A1_ENST00000532073.1_Missense_Mutation_p.G68V|MS4A1_ENST00000345732.4_Missense_Mutation_p.G68V|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Missense_Mutation_p.G68V	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	68					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.G68V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GCCCTGGGGGGTCTTCTGATG	0.522													G|||	1	0.000199681	0	0	5008	,	,		17878	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11											109	107	108					11																	60230518		2203	4300	6503	59987094	SO:0001583	missense	931			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.203G>T	11.37:g.60230518G>T	ENSP00000433277:p.Gly68Val		59987094	A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115348	0.56505	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000533306;ENST00000389939	T;T;T;T;T	0.02140	4.43;4.43;4.43;4.43;4.43	5.93	5.93	0.95920	.	0.232971	0.43260	D	0.000583	T	0.05318	0.0141	L	0.31157	0.91	0.41732	D	0.989569	P;D;D	0.63880	0.896;0.993;0.993	P;D;D	0.68039	0.596;0.955;0.955	T	0.49322	-0.8952	10	0.05620	T	0.96	-13.3524	15.854	0.78960	0.0:0.0:1.0:0.0	.	68;68;68	E9PKH8;A8K803;P11836	.;.;CD20_HUMAN	V	68;68;68;71;68	ENSP00000314620:G68V;ENSP00000433519:G68V;ENSP00000433277:G68V;ENSP00000437002:G71V;ENSP00000374589:G68V	ENSP00000314620:G68V	G	+	2	0	MS4A1	59987094	0.350000	0.24878	0.076000	0.20297	0.969000	0.65631	3.118000	0.50414	2.826000	0.97356	0.655000	0.94253	GGT		0.522	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			T	60230518	G	T	60230518	3	4	58	1	0	0	0	0	1	0	0	0	9854	1261	44	3	209	3	MS4A1	11	60230518	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	16131117	60230518	74775998	44	2948											
FADS2	9415	broad.mit.edu	37	11	61605272	61605272	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr11:61605272C>G	ENST00000278840.4	+	2	860	c.230C>G	c.(229-231)cCt>cGt	p.P77R	FADS2_ENST00000257261.6_Missense_Mutation_p.P55R|FADS2_ENST00000521849.1_Missense_Mutation_p.P77R|FADS2_ENST00000522056.1_Missense_Mutation_p.P46R	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	77	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.P77R(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GCCTTCCACCCTGACCTGGAA	0.597																																																1	Substitution - Missense(1)	ovary(1)	11											61	45	50					11																	61605272		2202	4299	6501	61361848	SO:0001583	missense	9415			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.230C>G	11.37:g.61605272C>G	ENSP00000278840:p.Pro77Arg		61361848	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497564	0.04291	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849	T;T;T;T	0.80214	1.86;1.87;-1.35;-1.35	4.74	-1.21	0.09524	Cytochrome b5 (4);	0.512910	0.18271	N	0.146336	T	0.69360	0.3102	L	0.55017	1.72	0.24214	N	0.995469	B;B;B;B	0.20368	0.006;0.002;0.0;0.044	B;B;B;B	0.26416	0.013;0.021;0.005;0.069	T	0.55023	-0.8205	10	0.32370	T	0.25	-20.568	3.0092	0.06039	0.1079:0.4324:0.1203:0.3395	.	46;77;77;55	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	R	55;46;77;77	ENSP00000257261:P55R;ENSP00000429500:P46R;ENSP00000278840:P77R;ENSP00000431091:P77R	ENSP00000257261:P55R	P	+	2	0	FADS2	61361848	0.169000	0.23002	0.111000	0.21465	0.746000	0.42486	0.660000	0.25009	-0.045000	0.13468	0.655000	0.94253	CCT		0.597	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		G	61605272	C	G	61605272	3	3	58	1	0	0	0	0	1	0	0	0	5366	681	24	3	236	3	FADS2	11	61605272	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	1374754	61605272	73401244	45	2949											
GAB2	9846	broad.mit.edu	37	11	77934516	77934516	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr11:77934516G>C	ENST00000361507.4	-	6	1594	c.1509C>G	c.(1507-1509)agC>agG	p.S503R	GAB2_ENST00000340149.2_Missense_Mutation_p.S465R	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	503					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.S503R(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CACTTCCTCTGCTGGGGCCTC	0.547																																																1	Substitution - Missense(1)	ovary(1)	11											172	162	165					11																	77934516		2200	4292	6492	77612164	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1509C>G	11.37:g.77934516G>C	ENSP00000354952:p.Ser503Arg		77612164	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	8.724	0.915036	0.17907	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.15372	2.43;2.65	4.67	2.53	0.30540	.	0.362359	0.25400	U	0.030943	T	0.09423	0.0232	L	0.38175	1.15	0.41338	D	0.987284	B	0.12630	0.006	B	0.08055	0.003	T	0.22452	-1.0216	10	0.16420	T	0.52	-21.4563	1.0785	0.01638	0.1754:0.2008:0.3653:0.2585	.	503	Q9UQC2	GAB2_HUMAN	R	465;503	ENSP00000343959:S465R;ENSP00000354952:S503R	ENSP00000343959:S465R	S	-	3	2	GAB2	77612164	0.932000	0.31603	0.975000	0.42487	0.993000	0.82548	-0.074000	0.11450	0.551000	0.29008	0.561000	0.74099	AGC		0.547	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		C	77934516	G	C	77934516	3	2	58	1	0	0	0	0	1	0	0	0	6149	1310	46	3	541	3	GAB2	11	77934516	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	16329244	77934516	57072000	46	2950											
DSCAML1	57453	broad.mit.edu	37	11	117387316	117387316	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr11:117387316C>A	ENST00000321322.6	-	8	1830	c.1829G>T	c.(1828-1830)cGc>cTc	p.R610L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R340L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	550	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R610L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCACCTGGCGGTGGTTGTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	11											94	75	81					11																	117387316		2201	4296	6497	116892526	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1829G>T	11.37:g.117387316C>A	ENSP00000315465:p.Arg610Leu		116892526	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722927	0.89298	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.64260	-0.09;-0.09	4.1	4.1	0.47936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84415	0.5467	H	0.95004	3.61	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.89653	0.3871	9	0.87932	D	0	.	16.8526	0.85998	0.0:1.0:0.0:0.0	.	550	Q8TD84	DSCL1_HUMAN	L	340;610;317	ENSP00000434335:R340L;ENSP00000315465:R610L	ENSP00000315465:R610L	R	-	2	0	DSCAML1	116892526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.273000	0.75805	0.462000	0.41574	CGC		0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		A	117387316	C	A	117387316	3	1	58	1	0	0	0	0	1	0	0	0	4769	768	27	3	4616	3	DSCAML1	11	117387316	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	39452800	117387316	17619200	47	2951											
NAV3	89795	broad.mit.edu	37	12	78513480	78513480	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr12:78513480C>G	ENST00000397909.2	+	15	3677	c.3504C>G	c.(3502-3504)agC>agG	p.S1168R	NAV3_ENST00000536525.2_Missense_Mutation_p.S1168R|NAV3_ENST00000228327.6_Missense_Mutation_p.S1168R|NAV3_ENST00000266692.7_Missense_Mutation_p.S1168R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1168	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S1168R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACGTCAGCAGCAAGTCTGCTG	0.552										HNSCC(70;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											68	72	71					12																	78513480		1957	4129	6086	77037611	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3504C>G	12.37:g.78513480C>G	ENSP00000381007:p.Ser1168Arg		77037611	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.62|18.62	3.662745|3.662745	0.67700|0.67700	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52	5.55|5.55	3.74|3.74	0.42951|0.42951	.|.	.|0.000000	.|0.48286	.|U	.|0.000198	T|T	0.47002|0.47002	0.1422|0.1422	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.997;0.999;0.999;0.998	.|D;D;P;P	.|0.70935	.|0.929;0.971;0.869;0.876	T|T	0.41945|0.41945	-0.9480|-0.9480	5|10	.|0.72032	.|D	.|0.01	-17.1818|-17.1818	12.1108|12.1108	0.53838|0.53838	0.0:0.8608:0.0:0.1392|0.0:0.8608:0.0:0.1392	.|.	.|1168;1168;1168;1168	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	E|R	240|1168	.|ENSP00000446132:S1168R;ENSP00000381007:S1168R;ENSP00000228327:S1168R;ENSP00000266692:S1168R	.|ENSP00000228327:S1168R	Q|S	+|+	1|3	0|2	NAV3|NAV3	77037611|77037611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	2.353000|2.353000	0.44089|0.44089	0.711000|0.711000	0.32018|0.32018	0.655000|0.655000	0.94253|0.94253	CAA|AGC		0.552	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		G	78513480	C	G	78513480	3	3	58	1	0	0	0	0	1	0	0	0	10185	709	25	3	3562	3	NAV3	12	78513480	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08		78513480	55338415	48	2952											
LRRIQ1	84125	broad.mit.edu	37	12	85449556	85449556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr12:85449556C>T	ENST00000393217.2	+	8	1046	c.985C>T	c.(985-987)Cga>Tga	p.R329*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	329	Glu-rich.							p.R329*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		agcaaaaatacgacaaaagga	0.343																																																1	Substitution - Nonsense(1)	ovary(1)	12											26	27	26					12																	85449556		2196	4279	6475	83973687	SO:0001587	stop_gained	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.985C>T	12.37:g.85449556C>T	ENSP00000376910:p.Arg329*		83973687	Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225824	0.39300	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.27	2.12	0.27331	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0023	0.58683	0.5332:0.4668:0.0:0.0	.	.	.	.	X	329;304;329	.	ENSP00000256007:R329X	R	+	1	2	LRRIQ1	83973687	0.025000	0.19082	0.620000	0.29132	0.117000	0.20001	0.396000	0.20867	0.554000	0.29061	0.313000	0.20887	CGA		0.343	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		T	85449556	C	T	85449556	4	4	58	1	0	0	0	0	0	1	0	0	9029	528	19	1	1011	1	LRRIQ1	12	85449556	Nonsense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	6936076	85449556	48402339	49	2953											
EP400	57634	broad.mit.edu	37	12	132516556	132516556	+	Missense_Mutation	SNP	A	A	C	rs75778935		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr12:132516556A>C	ENST00000333577.4	+	31	6030	c.5921A>C	c.(5920-5922)cAc>cCc	p.H1974P	EP400_ENST00000330386.6_Missense_Mutation_p.H1857P|EP400_ENST00000332482.4_Missense_Mutation_p.H1901P|EP400_ENST00000389561.2_Missense_Mutation_p.H1938P|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000389562.2_Missense_Mutation_p.H1937P			Q96L91	EP400_HUMAN	E1A binding protein p400	1974	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.H1937P(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCTCCACTCACAGCCGTACC	0.453																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	12											149	150	150					12																	132516556		2203	4300	6503	131082509	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5921A>C	12.37:g.132516556A>C	ENSP00000333602:p.His1974Pro		131082509	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	A	12.68	2.012076	0.35511	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.9	4.76	0.60689	.	0.147691	0.64402	D	0.000019	T	0.79458	0.4449	L	0.46157	1.445	0.38154	D	0.93883	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.61201	0.885;0.885;0.885	T	0.82194	-0.0578	10	0.72032	D	0.01	.	11.8911	0.52630	0.9321:0.0:0.0679:0.0	.	1938;1857;1937	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	P	1974;1938;1937;1901;1857;1938	ENSP00000333602:H1974P;ENSP00000374212:H1938P;ENSP00000374213:H1937P;ENSP00000331737:H1901P;ENSP00000330620:H1857P	ENSP00000330620:H1857P	H	+	2	0	EP400	131082509	1.000000	0.71417	0.975000	0.42487	0.821000	0.46438	6.269000	0.72558	1.058000	0.40530	0.460000	0.39030	CAC		0.453	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		C	132516556	A	C	132516556	3	2	58	1	0	0	0	0	1	0	0	0	5149	159	6	5	5924	5	EP400	12	132516556	Missense_Mutation	SNP	A	TCGA-09-2056-01B-01W-0722-08	47067000	132516556	1335339	50	2954											
SYNE2	23224	broad.mit.edu	37	14	64604641	64604641	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr14:64604641T>G	ENST00000344113.4	+	79	14995	c.14783T>G	c.(14782-14784)cTg>cGg	p.L4928R	SYNE2_ENST00000394768.2_Missense_Mutation_p.L1313R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4928R|SYNE2_ENST00000357395.3_Missense_Mutation_p.L1313R|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4845R|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1562R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4928					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L4928R(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGTTGTCCCTGAACAAGAAA	0.498																																																1	Substitution - Missense(1)	ovary(1)	14											77	68	71					14																	64604641		2203	4300	6503	63674394	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14783T>G	14.37:g.64604641T>G	ENSP00000341781:p.Leu4928Arg		63674394	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647780	0.29336	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.87	5.87	0.94306	.	0.000000	0.42172	D	0.000750	T	0.69895	0.3162	L	0.60455	1.87	0.35560	D	0.804607	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.988;0.981;0.999	T	0.78094	-0.2338	10	0.66056	D	0.02	.	16.2676	0.82597	0.0:0.0:0.0:1.0	.	1313;4928;4928	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	R	4928;1313;4928;4845;4845;1562;1313	ENSP00000350719:L4928R;ENSP00000349969:L1313R;ENSP00000341781:L4928R;ENSP00000452570:L4845R;ENSP00000450831:L1562R;ENSP00000378249:L1313R	ENSP00000261678:L4845R	L	+	2	0	SYNE2	63674394	0.155000	0.22806	0.997000	0.53966	0.995000	0.86356	2.120000	0.41968	2.243000	0.73865	0.533000	0.62120	CTG		0.498	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64604641	T	G	64604641	3	3	58	1	0	0	0	0	1	0	0	0	15446	1580	55	5	15093	5	SYNE2	14	64604641	Missense_Mutation	SNP	T	TCGA-09-2056-01B-01W-0722-08		64604641	42744899	51	2955											
DMXL2	23312	broad.mit.edu	37	15	51828974	51828974	+	Missense_Mutation	SNP	A	A	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr15:51828974A>C	ENST00000251076.5	-	12	1990	c.1703T>G	c.(1702-1704)aTa>aGa	p.I568R	DMXL2_ENST00000449909.3_Missense_Mutation_p.I568R|DMXL2_ENST00000543779.2_Missense_Mutation_p.I568R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	568						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.I568R(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGTCGCATTTATACAGGCATA	0.433																																																1	Substitution - Missense(1)	ovary(1)	15											114	97	103					15																	51828974		2195	4293	6488	49616266	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1703T>G	15.37:g.51828974A>C	ENSP00000251076:p.Ile568Arg		49616266	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.442881	0.25987	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.50277	0.75;0.75;0.75	4.7	2.43	0.29744	.	0.356819	0.33712	N	0.004632	T	0.23492	0.0568	N	0.14661	0.345	0.30642	N	0.756302	B;B;B	0.16166	0.003;0.01;0.016	B;B;B	0.19666	0.012;0.026;0.017	T	0.13791	-1.0496	10	0.13470	T	0.59	.	4.7768	0.13184	0.559:0.0:0.441:0.0	.	568;568;568	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	R	568	ENSP00000251076:I568R;ENSP00000441858:I568R;ENSP00000400855:I568R	ENSP00000251076:I568R	I	-	2	0	DMXL2	49616266	0.728000	0.28080	0.990000	0.47175	0.981000	0.71138	3.181000	0.50903	0.896000	0.36366	0.533000	0.62120	ATA		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		C	51828974	A	C	51828974	3	2	58	1	0	0	0	0	1	0	0	0	4595	449	16	5	7538	5	DMXL2	15	51828974	Missense_Mutation	SNP	A	TCGA-09-2056-01B-01W-0722-08		51828974	50702418	52	2956											
MEF2A	4205	broad.mit.edu	37	15	100250958	100250958	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr15:100250958T>A	ENST00000557785.1	+	10	1454	c.1105T>A	c.(1105-1107)Tct>Act	p.S369T	MEF2A_ENST00000557942.1_Missense_Mutation_p.S377T|MEF2A_ENST00000338042.6_Missense_Mutation_p.S378T|MEF2A_ENST00000558812.1_Missense_Mutation_p.S309T|MEF2A_ENST00000453228.2_Missense_Mutation_p.S369T|MEF2A_ENST00000354410.5_Missense_Mutation_p.S371T|MEF2A_ENST00000449277.2_Missense_Mutation_p.S301T	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	379					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.S379T(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AGCCCTCAGCTCTCTTGTGTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											45	47	46					15																	100250958		2051	4204	6255	98068481	SO:0001583	missense	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1105T>A	15.37:g.100250958T>A	ENSP00000453441:p.Ser369Thr		98068481	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.948502	0.92593	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.10573	2.86;2.86;2.86;3.04	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.34521	1.04	0.39782	D	0.97231	D;D;D;D;D;D	0.67145	0.979;0.992;0.975;0.996;0.988;0.993	D;P;D;D;D;D	0.79108	0.983;0.868;0.942;0.99;0.992;0.981	T	0.01791	-1.1273	10	0.42905	T	0.14	-20.8248	15.8544	0.78965	0.0:0.0:0.0:1.0	.	379;309;290;369;371;377	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	T	369;371;378;309	ENSP00000404110:S369T;ENSP00000346389:S371T;ENSP00000337202:S378T;ENSP00000399460:S309T	ENSP00000337202:S378T	S	+	1	0	MEF2A	98068481	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.147000	0.66899	0.460000	0.39030	TCT		0.527	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			A	100250958	T	A	100250958	3	1	58	1	0	0	0	0	1	0	0	0	9455	1551	54	5	1305	5	MEF2A	15	100250958	Missense_Mutation	SNP	T	TCGA-09-2056-01B-01W-0722-08	48421984	100250958	2280434	53	2957											
ABCA3	21	broad.mit.edu	37	16	2347484	2347484	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr16:2347484G>C	ENST00000301732.5	-	17	2809	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	ABCA3_ENST00000382381.3_Missense_Mutation_p.I645M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	703	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.I703M(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GAAGATCCCAGATGGCCCTCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	16											159	120	134					16																	2347484		2198	4300	6498	2287485	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2109C>G	16.37:g.2347484G>C	ENSP00000301732:p.Ile703Met		2287485	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	9.571	1.121158	0.20877	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.94650	-3.48	6.17	5.22	0.72569	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.104288	0.64402	D	0.000004	D	0.90820	0.7117	N	0.16708	0.43	0.80722	D	1	B;B;B	0.33212	0.402;0.078;0.073	B;B;B	0.43386	0.418;0.067;0.082	D	0.89902	0.4045	10	0.66056	D	0.02	.	9.3489	0.38126	0.0747:0.232:0.6933:0.0	.	703;707;703	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	M	703;707	ENSP00000301732:I703M	ENSP00000301732:I703M	I	-	3	3	ABCA3	2287485	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	1.932000	0.40143	1.632000	0.50472	-0.140000	0.14226	ATC		0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		C	2347484	G	C	2347484	3	2	58	1	0	0	0	0	1	0	0	0	33	932	33	3	3073	3	ABCA3	16	2347484	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08		2347484	88007269	54	2958											
C16orf62	57020	broad.mit.edu	37	16	19584448	19584448	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr16:19584448C>G	ENST00000251143.5	+	4	305	c.293C>G	c.(292-294)tCc>tGc	p.S98C	C16orf62_ENST00000417362.2_Missense_Mutation_p.S98C|C16orf62_ENST00000438132.3_Missense_Mutation_p.S187C|C16orf62_ENST00000542263.1_Missense_Mutation_p.S187C|C16orf62_ENST00000538853.1_Missense_Mutation_p.S187C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	98						integral component of membrane (GO:0016021)		p.S98C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TAGGACAGCTCCAGAAGGAAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	16											128	125	126					16																	19584448		2197	4300	6497	19491949	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.293C>G	16.37:g.19584448C>G	ENSP00000251143:p.Ser98Cys		19491949	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	C	16.17	3.048294	0.55110	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.53857	1.49;0.6;1.49;1.49;1.49	5.32	5.32	0.75619	.	0.500913	0.19378	N	0.115732	T	0.44180	0.1281	L	0.29908	0.895	0.80722	D	1	B;D;P	0.53885	0.32;0.963;0.921	B;P;P	0.46479	0.23;0.518;0.518	T	0.41413	-0.9510	10	0.56958	D	0.05	-5.8276	8.4506	0.32869	0.1537:0.7663:0.0:0.0799	.	187;98;187	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	C	187;187;187;98;98	ENSP00000400815:S187C;ENSP00000444363:S187C;ENSP00000442468:S187C;ENSP00000251143:S98C;ENSP00000395973:S98C	ENSP00000251143:S98C	S	+	2	0	C16orf62	19491949	0.858000	0.29795	0.997000	0.53966	0.734000	0.41952	1.274000	0.33132	2.488000	0.83962	0.557000	0.71058	TCC		0.403	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		G	19584448	C	G	19584448	3	3	58	1	0	0	0	0	1	0	0	0	1825	855	30	3	307	3	C16orf62	16	19584448	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	17236964	19584448	70770305	55	2959											
PALB2	79728	broad.mit.edu	37	16	23646759	23646759	+	Nonsense_Mutation	SNP	G	G	A	rs587776411		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr16:23646759G>A	ENST00000261584.4	-	4	1260	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	370	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q370*(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCACTTTCCTGAAGATTTTCA	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	1	Substitution - Nonsense(1)	ovary(1)	16											131	132	132					16																	23646759		2197	4300	6497	23554260	SO:0001587	stop_gained	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1108C>T	16.37:g.23646759G>A	ENSP00000261584:p.Gln370*		23554260	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Nonsense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111780	0.56398	.	.	ENSG00000083093	ENST00000261584	.	.	.	5.97	2.88	0.33553	.	0.679765	0.14134	N	0.339144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	0.2715	5.1457	0.14983	0.0783:0.1441:0.6283:0.1494	.	.	.	.	X	370	.	ENSP00000261584:Q370X	Q	-	1	0	PALB2	23554260	0.000000	0.05858	0.061000	0.19648	0.028000	0.11728	0.095000	0.15127	0.387000	0.25024	0.655000	0.94253	CAG		0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		A	23646759	G	A	23646759	4	1	58	1	0	0	0	0	0	1	0	0	11406	1299	45	2	2492	2	PALB2	16	23646759	Nonsense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	4062311	23646759	66707994	56	2960											
MT4	84560	broad.mit.edu	37	16	56602819	56602819	+	Nonsense_Mutation	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr16:56602819C>G	ENST00000219162.3	+	3	244	c.164C>G	c.(163-165)tCa>tGa	p.S55*		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	55					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)	p.S55*(1)		ovary(1)|upper_aerodigestive_tract(1)	2						AAAGGAGGCTCAGACAAGTGC	0.592																																																1	Substitution - Nonsense(1)	ovary(1)	16											95	103	101					16																	56602819		2193	4299	6492	55160320	SO:0001587	stop_gained	84560			BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"Metallothioneins"	18705	protein-coding gene	gene with protein product		606206	"metallothionein IV"			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.164C>G	16.37:g.56602819C>G	ENSP00000219162:p.Ser55*		55160320	Q14DA1	Nonsense_Mutation	SNP	ENST00000219162.3	37	CCDS42165.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063216	0.76187	.	.	ENSG00000102891	ENST00000219162	.	.	.	5.92	5.92	0.95590	.	0.481217	0.19339	N	0.116694	.	.	.	.	.	.	0.46149	D	0.998895	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.0065	15.8214	0.78648	0.0:1.0:0.0:0.0	.	.	.	.	X	55	.	ENSP00000219162:S55X	S	+	2	0	MT4	55160320	0.801000	0.28930	0.139000	0.22197	0.969000	0.65631	5.330000	0.65899	2.810000	0.96702	0.650000	0.86243	TCA		0.592	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		G	56602819	C	G	56602819	4	3	58	1	0	0	0	0	0	1	0	0	9907	838	29	3	174	3	MT4	16	56602819	Nonsense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	32956060	56602819	33751934	57	2961											
KIAA1609	57707	broad.mit.edu	37	16	84523001	84523001	+	Missense_Mutation	SNP	C	C	A	rs531177116		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr16:84523001C>A	ENST00000343629.6	-	4	594	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	TLDC1_ENST00000535580.1_Missense_Mutation_p.V111L|TLDC1_ENST00000561807.1_5'UTR	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	138						lysosomal membrane (GO:0005765)		p.V138L(1)									AGCACGTGCACCACAGAGCCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											56	52	53					16																	84523001		2200	4300	6500	83080502	SO:0001583	missense	57707			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.412G>T	16.37:g.84523001C>A	ENSP00000343635:p.Val138Leu		83080502	Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667276	0.47677	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.15256	2.44;2.44	5.04	4.06	0.47325	.	0.399254	0.27522	N	0.018990	T	0.18130	0.0435	M	0.74258	2.255	0.09310	N	0.999998	P;B	0.40431	0.717;0.168	B;B	0.37198	0.243;0.045	T	0.18085	-1.0348	10	0.39692	T	0.17	-5.9212	6.4774	0.22043	0.0:0.6849:0.1552:0.1599	.	111;138	F5GWS3;Q6P9B6	.;K1609_HUMAN	L	138;111	ENSP00000343635:V138L;ENSP00000441997:V111L	ENSP00000343635:V138L	V	-	1	0	KIAA1609	83080502	0.008000	0.16893	0.101000	0.21167	0.991000	0.79684	1.505000	0.35736	1.069000	0.40788	0.591000	0.81541	GTG		0.542	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		A	84523001	C	A	84523001	3	1	58	1	0	0	0	0	1	0	0	0	8247	507	18	3	978	3	KIAA1609	16	84523001	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	27920182	84523001	5831752	58	2962											
OR1D2	4991	broad.mit.edu	37	17	2995765	2995765	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr17:2995765A>T	ENST00000331459.1	-	1	525	c.526T>A	c.(526-528)Tac>Aac	p.Y176N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	176					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y176N(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGAAGATGTAGTGGATTTTT	0.468																																																1	Substitution - Missense(1)	ovary(1)	17											102	94	97					17																	2995765		2203	4300	6503	2942515	SO:0001583	missense	4991			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.526T>A	17.37:g.2995765A>T	ENSP00000327585:p.Tyr176Asn		2942515	Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	a	12.06	1.824131	0.32237	.	.	ENSG00000184166	ENST00000331459	T	0.00058	8.79	3.21	0.674	0.17946	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.17838	0.53	0.09310	N	1	D	0.53885	0.963	P	0.56088	0.791	T	0.47636	-0.9102	9	0.66056	D	0.02	.	1.5596	0.02592	0.3674:0.0:0.3294:0.3032	.	176	P34982	OR1D2_HUMAN	N	176	ENSP00000327585:Y176N	ENSP00000327585:Y176N	Y	-	1	0	OR1D2	2942515	0.982000	0.34865	0.723000	0.30687	0.254000	0.26022	2.546000	0.45778	0.288000	0.22398	0.443000	0.29094	TAC		0.468	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		T	2995765	A	T	2995765	3	4	58	1	0	0	0	0	1	0	0	0	10953	420	15	5	415	5	OR1D2	17	2995765	Missense_Mutation	SNP	A	TCGA-09-2056-01B-01W-0722-08		2995765	78199445	59	2963											
NLRP1	22861	broad.mit.edu	37	17	5462708	5462708	+	Silent	SNP	C	C	T	rs200867395		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr17:5462708C>T	ENST00000572272.1	-	4	1307	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	NLRP1_ENST00000262467.5_Silent_p.A436A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.A436A|NLRP1_ENST00000269280.4_Silent_p.A436A|NLRP1_ENST00000345221.3_Silent_p.A436A|NLRP1_ENST00000354411.3_Silent_p.A436A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	436	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.A436A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCAGTGCATCCGCCGGCTGTG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	17											30	31	31					17																	5462708		2203	4300	6503	5403432	SO:0001819	synonymous_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1308G>A	17.37:g.5462708C>T			5403432	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																				0.577	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		T	5462708	C	T	5462708	2	4	58	1	0	0	0	0	0	0	0	1	10471	639	23	1		1	NLRP1	17	5462708	Silent	SNP	C	TCGA-09-2056-01B-01W-0722-08	2466943	5462708	75732502	60	2964											
CASC3	22794	broad.mit.edu	37	17	38319916	38319916	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr17:38319916G>C	ENST00000264645.7	+	7	1194	c.968G>C	c.(967-969)cGt>cCt	p.R323P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	323					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)	p.R323P(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AAGGAAGGTCGTGCTGGTTTT	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											229	218	222					17																	38319916		2203	4300	6503	35573442	SO:0001583	missense	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.968G>C	17.37:g.38319916G>C	ENSP00000264645:p.Arg323Pro		35573442	A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460420	0.84317	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.74	5.74	0.90152	.	0.109592	0.64402	D	0.000018	T	0.73385	0.3580	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.74771	-0.3552	9	0.72032	D	0.01	-5.2928	19.5335	0.95239	0.0:0.0:1.0:0.0	.	323;323	B4DKR6;O15234	.;CASC3_HUMAN	P	323	.	ENSP00000264645:R323P	R	+	2	0	CASC3	35573442	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	6.778000	0.75043	2.717000	0.92951	0.655000	0.94253	CGT		0.542	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		C	38319916	G	C	38319916	3	2	58	1	0	0	0	0	1	0	0	0	2661	1145	40	3	994	3	CASC3	17	38319916	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	32857208	38319916	42875294	61	2965											
MED13	9969	broad.mit.edu	37	17	60060105	60060105	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr17:60060105C>G	ENST00000397786.2	-	16	3335	c.3259G>C	c.(3259-3261)Gac>Cac	p.D1087H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1087					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.D1087H(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAGTTACAGTCTTTAAACAAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	17											94	86	89					17																	60060105		1932	4148	6080	57414887	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3259G>C	17.37:g.60060105C>G	ENSP00000380888:p.Asp1087His		57414887	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114500	0.77210	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.89050	-2.46	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94935	0.8086	10	0.87932	D	0	-11.3291	20.1356	0.98028	0.0:1.0:0.0:0.0	.	1087	Q9UHV7	MED13_HUMAN	H	1087;1086	ENSP00000380888:D1087H	ENSP00000262436:D1086H	D	-	1	0	MED13	57414887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.755000	0.94549	0.650000	0.86243	GAC		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		G	60060105	C	G	60060105	3	3	58	1	0	0	0	0	1	0	0	0	9430	913	32	3	3325	3	MED13	17	60060105	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08	21740189	60060105	21135105	62	2966											
KIAA1012	22878	broad.mit.edu	37	18	29412046	29412046	+	Splice_Site	SNP	C	C	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr18:29412046C>T	ENST00000283351.4	-	28	4409		c.e28+1		TRAPPC8_ENST00000582539.1_Splice_Site	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAATCTTTACCTTGTTGTTT	0.323																																																1	Unknown(1)	ovary(1)	18											88	82	84					18																	29412046		2203	4294	6497	27666044	SO:0001630	splice_region_variant	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.4073+1G>A	18.37:g.29412046C>T			27666044	A0JP15|B3KME5|Q9H0L2	Splice_Site	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128880	0.77549	.	.	ENSG00000153339	ENST00000283351	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6343	0.95724	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC8	27666044	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.611000	0.74183	2.648000	0.89879	0.460000	0.39030	.		0.323	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	Intron	T	29412046	C	T	29412046	5	4	58	1	0	0	0	0	0	0	1	0	8204	521	18	2	241	2	KIAA1012	18	29412046	Splice_Site	SNP	C	TCGA-09-2056-01B-01W-0722-08		29412046	48665202	63	2967											
ISYNA1	51477	broad.mit.edu	37	19	18546730	18546730	+	Splice_Site	SNP	G	G	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr19:18546730G>T	ENST00000338128.8	-	8	1194	c.977C>A	c.(976-978)aCc>aAc	p.T326N	ISYNA1_ENST00000317018.6_Splice_Site_p.T124N|ISYNA1_ENST00000457269.4_Splice_Site_p.T272N|ISYNA1_ENST00000545187.1_Splice_Site_p.T176N|ISYNA1_ENST00000578963.1_Splice_Site_p.T198N	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	326					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)	p.T326N(1)		breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GATGGACATGGTCTGTGGGTA	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											127	135	132					19																	18546730		2203	4300	6503	18407730	SO:0001630	splice_region_variant	51477				CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.976-1C>A	19.37:g.18546730G>T			18407730	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448362	0.43429	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.58	4.58	0.56647	Myo-inositol-1-phosphate synthase, GAPDH-like (1);	0.136554	0.48767	D	0.000174	T	0.38957	0.1060	N	0.08118	0	0.44899	D	0.997919	P;B;B;B	0.35107	0.484;0.134;0.288;0.147	B;B;B;B	0.40038	0.317;0.212;0.317;0.169	T	0.49960	-0.8883	9	0.66056	D	0.02	-28.2331	15.2171	0.73277	0.0:0.0:1.0:0.0	.	124;272;326;176	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	N	326;272;176;124	.	ENSP00000315147:T124N	T	-	2	0	ISYNA1	18407730	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.695000	0.74593	2.264000	0.75181	0.561000	0.74099	ACC		0.627	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368	Missense_Mutation	T	18546730	G	T	18546730	5	4	58	1	0	0	0	0	0	0	1	0	7867	1275	44	3	715	3	ISYNA1	19	18546730	Splice_Site	SNP	G	TCGA-09-2056-01B-01W-0722-08		18546730	40582253	64	2968											
C19orf46	163183	broad.mit.edu	37	19	36498131	36498131	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr19:36498131T>C	ENST00000324444.3	-	3	430	c.319A>G	c.(319-321)Aac>Gac	p.N107D	ALKBH6_ENST00000495116.2_5'Flank|AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000340477.5_Intron	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	107					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)		p.N107D(1)									TGCAGGCTGTTCTGCTCAGCC	0.652																																																1	Substitution - Missense(1)	ovary(1)	19											13	16	15					19																	36498131		1967	4144	6111	41189971	SO:0001583	missense	163183			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"chromosome 19 open reading frame 46", "deafness, autosomal recessive 76"	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.319A>G	19.37:g.36498131T>C	ENSP00000316130:p.Asn107Asp		41189971	A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	CCDS42553.1	.	.	.	.	.	.	.	.	.	.	T	0.080	-1.184656	0.01620	.	.	ENSG00000181392	ENST00000324444;ENST00000490730	T;T	0.37584	1.88;1.19	5.11	3.0	0.34707	.	0.460773	0.18818	N	0.130312	T	0.06508	0.0167	N	0.00170	-1.935	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37663	-0.9696	10	0.02654	T	1	-10.7669	6.9356	0.24464	0.0:0.7999:0.0:0.2001	.	107;107	D6RAE3;Q8N205	.;SYNE4_HUMAN	D	107	ENSP00000316130:N107D;ENSP00000422716:N107D	ENSP00000316130:N107D	N	-	1	0	C19orf46	41189971	0.988000	0.35896	0.999000	0.59377	0.129000	0.20672	1.049000	0.30392	1.488000	0.48433	-0.232000	0.12228	AAC		0.652	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		C	36498131	T	C	36498131	3	2	58	1	0	0	0	0	1	0	0	0	1929	1783	62	4	919	4	C19orf46	19	36498131	Missense_Mutation	SNP	T	TCGA-09-2056-01B-01W-0722-08	17951401	36498131	22630852	65	2969											
LZTR1	8216	broad.mit.edu	37	22	21344673	21344673	+	Splice_Site	SNP	A	A	C			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr22:21344673A>C	ENST00000215739.8	+	8	1010		c.e8-1		LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTCCCCCTGCAGGTGGCCCAG	0.577																																																1	Unknown(1)	ovary(1)	22											107	105	106					22																	21344673		2203	4300	6503	19674673	SO:0001630	splice_region_variant	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.652-1A>C	22.37:g.21344673A>C			19674673	Q14776|Q20WK0	Splice_Site	SNP	ENST00000215739.8	37	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	.	18.30	3.593773	0.66219	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6769	0.62460	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LZTR1	19674673	1.000000	0.71417	0.992000	0.48379	0.640000	0.38277	9.247000	0.95444	2.172000	0.68678	0.533000	0.62120	.		0.577	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Intron	C	21344673	A	C	21344673	5	2	58	1	0	0	0	0	0	0	1	0	9137	202	7	5	680	5	LZTR1	22	21344673	Splice_Site	SNP	A	TCGA-09-2056-01B-01W-0722-08		21344673	29959893	66	2970											
CCDC116	164592	broad.mit.edu	37	22	21988734	21988734	+	Missense_Mutation	SNP	G	G	C	rs35746656		TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chr22:21988734G>C	ENST00000292779.3	+	3	657	c.496G>C	c.(496-498)Gcc>Ccc	p.A166P	CCDC116_ENST00000607942.1_Missense_Mutation_p.A166P	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	166								p.A166P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CAGCCTCATGGCCGGCTGTCT	0.617																																																1	Substitution - Missense(1)	ovary(1)	22											57	64	62					22																	21988734		2201	4299	6500	20318734	SO:0001583	missense	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.496G>C	22.37:g.21988734G>C	ENSP00000292779:p.Ala166Pro		20318734	Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771417	0.49680	.	.	ENSG00000161180	ENST00000292779	T	0.21932	1.98	4.42	4.42	0.53409	.	0.393903	0.21692	N	0.070551	T	0.36853	0.0982	L	0.46157	1.445	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.05903	-1.0857	9	.	.	.	-61.6135	12.7004	0.57029	0.0:0.0:1.0:0.0	.	166;166	B7Z7H5;Q8IYX3-2	.;.	P	166	ENSP00000292779:A166P	.	A	+	1	0	CCDC116	20318734	0.001000	0.12720	0.025000	0.17156	0.625000	0.37756	0.920000	0.28705	2.456000	0.83038	0.491000	0.48974	GCC		0.617	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		C	21988734	G	C	21988734	3	2	58	1	0	0	0	0	1	0	0	0	2753	1203	42	3	502	3	CCDC116	22	21988734	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	644061	21988734	29315832	67	2971											
MID1	4281	broad.mit.edu	37	X	10437842	10437842	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chrX:10437842C>G	ENST00000317552.4	-	7	1580	c.1180G>C	c.(1180-1182)Gct>Cct	p.A394P	MID1_ENST00000380785.1_Missense_Mutation_p.A394P|MID1_ENST00000380779.1_Missense_Mutation_p.A394P|MID1_ENST00000453318.2_Missense_Mutation_p.A394P|MID1_ENST00000380782.2_Missense_Mutation_p.A394P|MID1_ENST00000380787.1_Missense_Mutation_p.A394P|MID1_ENST00000380780.1_Missense_Mutation_p.A394P	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	394	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A394P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCATATGAAGCTGTGCAGAGC	0.502																																																1	Substitution - Missense(1)	ovary(1)	X											157	120	133					X																	10437842		2203	4300	6503	10397842	SO:0001583	missense	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1180G>C	X.37:g.10437842C>G	ENSP00000312678:p.Ala394Pro		10397842	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132013	0.94473	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	L	0.43152	1.355	0.80722	D	1	D;D;D	0.63880	0.985;0.993;0.973	D;D;D	0.71184	0.958;0.972;0.915	T	0.52990	-0.8501	10	0.37606	T	0.19	.	18.9882	0.92780	0.0:1.0:0.0:0.0	.	394;394;344	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	P	394;394;394;394;394;394;394;344;394	ENSP00000414521:A394P;ENSP00000312678:A394P;ENSP00000370162:A394P;ENSP00000370156:A394P;ENSP00000370164:A394P;ENSP00000370157:A394P;ENSP00000370159:A394P;ENSP00000391154:A394P	ENSP00000312678:A394P	A	-	1	0	MID1	10397842	1.000000	0.71417	0.923000	0.36655	0.955000	0.61496	7.290000	0.78711	2.433000	0.82419	0.600000	0.82982	GCT		0.502	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			G	10437842	C	G	10437842	3	3	58	1	0	0	0	0	1	0	0	0	9576	797	28	3	839	3	MID1	23	10437842	Missense_Mutation	SNP	C	TCGA-09-2056-01B-01W-0722-08		10437842	144832718	68	2972											
ARAF	369	broad.mit.edu	37	X	47430408	47430408	+	Silent	SNP	C	C	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chrX:47430408C>T	ENST00000377045.4	+	15	1877	c.1683C>T	c.(1681-1683)ccC>ccT	p.P561P	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	561	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.P561P(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCCTCTTCCCCCAGGTGGGCT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	X											16	16	16					X																	47430408		2202	4299	6501	47315352	SO:0001819	synonymous_variant	369			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1683C>T	X.37:g.47430408C>T			47315352	P07557|Q5H9B2|Q5H9B3	Silent	SNP	ENST00000377045.4	37	CCDS35232.1																																																																																				0.607	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			T	47430408	C	T	47430408	2	4	58	1	0	0	0	0	0	0	0	1	837	610	22	2		2	ARAF	23	47430408	Silent	SNP	C	TCGA-09-2056-01B-01W-0722-08	36992566	47430408	107840152	69	2973											
KDM5C	8242	broad.mit.edu	37	X	53222650	53222650	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chrX:53222650G>A	ENST00000375401.3	-	25	4818	c.4286C>T	c.(4285-4287)cCa>cTa	p.P1429L	KDM5C_ENST00000404049.3_Missense_Mutation_p.P1428L|KDM5C_ENST00000375379.3_Missense_Mutation_p.P1426L|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Missense_Mutation_p.P1385L	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1429					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.P1429L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTCCAGGTCTGGGGGCTGTCC	0.662			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Substitution - Missense(1)	ovary(1)	X											56	52	53					X																	53222650		2203	4300	6503	53239375	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4286C>T	X.37:g.53222650G>A	ENSP00000364550:p.Pro1429Leu		53239375	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	17.77	3.470276	0.63625	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.85629	-1.87;-1.87;-1.87;-2.01	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.90903	0.7141	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91983	0.5596	10	0.87932	D	0	-2.8012	14.0099	0.64490	0.0:0.0:1.0:0.0	.	1428;1429	B0QZ44;P41229	.;KDM5C_HUMAN	L	1429;1428;1426;1385	ENSP00000364550:P1429L;ENSP00000385394:P1428L;ENSP00000364528:P1426L;ENSP00000364532:P1385L	ENSP00000364528:P1426L	P	-	2	0	KDM5C	53239375	1.000000	0.71417	0.943000	0.38184	0.673000	0.39480	8.675000	0.91195	1.875000	0.54330	0.354000	0.21935	CCA		0.662	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53222650	G	A	53222650	3	1	58	1	0	0	0	0	1	0	0	0	8135	1348	47	2	502	2	KDM5C	23	53222650	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	5792242	53222650	102047910	70	2974											
NXF2	728343	broad.mit.edu	37	X	101615533	101615533	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2056-01B-01W-0722-08	TCGA-09-2056-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	62aa1fcd-44d8-427d-84f5-e936c3ed460b	d044d541-9046-4d49-8c39-2b67a3c18520	g.chrX:101615533G>T	ENST00000372750.1	-	27	2669	c.1870C>A	c.(1870-1872)Caa>Aaa	p.Q624K	NXF2B_ENST00000372749.1_Missense_Mutation_p.Q624K|NXF2B_ENST00000372752.1_3'UTR|NXF2B_ENST00000457521.2_Missense_Mutation_p.Q624K|NXF2B_ENST00000412230.2_Missense_Mutation_p.Q624K			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	624	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q624K(1)		breast(1)|kidney(1)|lung(4)|ovary(1)	7						TAGGAGATTTGCTTGAAGGCC	0.517																																																1	Substitution - Missense(1)	ovary(1)	X											175	136	151					X																	101615533		1980	3310	5290	101502189	SO:0001583	missense	56001				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.1870C>A	X.37:g.101615533G>T	ENSP00000361836:p.Gln624Lys		101502189	Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	ENST00000372750.1	37	CCDS43979.1	.	.	.	.	.	.	.	.	.	.	.	7.141	0.581814	0.13749	.	.	ENSG00000185945	ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	2.73	0.834	0.18880	.	0.373083	0.21694	U	0.070527	T	0.14743	0.0356	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31861	-0.9928	7	0.02654	T	1	0.0826	6.7236	0.23345	0.0:0.0:0.4944:0.5056	.	.	.	.	K	624	ENSP00000396447:Q624K;ENSP00000361835:Q624K;ENSP00000361836:Q624K;ENSP00000413087:Q624K	ENSP00000361835:Q624K	Q	-	1	0	NXF2B	101502189	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.627000	0.05521	0.102000	0.17638	0.502000	0.49764	CAA		0.517	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058979.1			T	101615533	G	T	101615533	3	4	58	1	0	0	0	0	1	0	0	0	10783	1328	46	3	1979	3	NXF2	23	101615533	Missense_Mutation	SNP	G	TCGA-09-2056-01B-01W-0722-08	48392883	101615533	53655027	71	2975											
UBR4	23352	broad.mit.edu	37	1	19442130	19442130	+	Splice_Site	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:19442130G>T	ENST00000375254.3	-	74	10852	c.10825C>A	c.(10825-10827)Cca>Aca	p.P3609T	UBR4_ENST00000375267.2_Splice_Site_p.P3609T|UBR4_ENST00000375218.3_Splice_Site_p.P24T|UBR4_ENST00000375226.2_Splice_Site_p.P3585T|UBR4_ENST00000375217.2_Splice_Site_p.P3602T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3609					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P3609T(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCGAGCTGGCCTAGGAAAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											104	105	105					1																	19442130		2203	4300	6503	19314717	SO:0001630	splice_region_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10824-1C>A	1.37:g.19442130G>T			19314717	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664860	0.67700	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.26518	1.73;1.73;1.75;1.75	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	M	0.79475	2.455	0.80722	D	1	P;D	0.71674	0.893;0.998	P;D	0.73708	0.624;0.981	T	0.55256	-0.8169	10	0.66056	D	0.02	.	18.7215	0.91697	0.0:0.0:1.0:0.0	.	24;3609	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	T	3609;3609;3602;3585;24	ENSP00000364403:P3609T;ENSP00000364416:P3609T;ENSP00000364365:P3602T;ENSP00000364374:P3585T	ENSP00000364365:P3602T	P	-	1	0	UBR4	19314717	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.447000	0.97595	2.767000	0.95098	0.655000	0.94253	CCA		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Missense_Mutation	T	19442130	G	T	19442130	5	4	59	1	0	0	0	0	0	0	1	0	16904	1217	42	3	4858	3	UBR4	1	19442130	Splice_Site	SNP	G	TCGA-10-0926-01A-01W-0420-08		19442130	229808491	1	2976											
CLSPN	63967	broad.mit.edu	37	1	36202125	36202125	+	Missense_Mutation	SNP	C	C	T	rs115320551		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:36202125C>T	ENST00000318121.3	-	25	4049	c.3992G>A	c.(3991-3993)cGa>cAa	p.R1331Q	CLSPN_ENST00000251195.5_Intron|CLSPN_ENST00000466308.1_5'UTR|CLSPN_ENST00000520551.1_Missense_Mutation_p.R1278Q|CLSPN_ENST00000373220.3_Missense_Mutation_p.R1267Q|RP11-435D7.3_ENST00000373226.2_RNA	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1331					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.R1331Q(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGATGCTTCGCGTCAATCC	0.423													C|||	1	0.000199681	8e-04	0	5008	,	,		18800	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											150	141	144					1																	36202125		2203	4300	6503	35974712	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3992G>A	1.37:g.36202125C>T	ENSP00000312995:p.Arg1331Gln		35974712	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.64	2.298942	0.40694	.	.	ENSG00000092853	ENST00000318121;ENST00000373220;ENST00000520551	T;T;T	0.27557	1.66;1.71;1.72	5.29	-1.26	0.09376	.	0.312008	0.29046	N	0.013319	T	0.14960	0.0361	N	0.12746	0.255	0.24776	N	0.992842	B;B	0.25007	0.116;0.068	B;B	0.15052	0.012;0.012	T	0.13176	-1.0519	10	0.32370	T	0.25	0.0185	13.1085	0.59261	0.0:0.8736:0.0:0.1264	.	1267;1331	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Q	1331;1267;1278	ENSP00000312995:R1331Q;ENSP00000362317:R1267Q;ENSP00000428848:R1278Q	ENSP00000312995:R1331Q	R	-	2	0	CLSPN	35974712	0.998000	0.40836	0.974000	0.42286	0.967000	0.64934	0.428000	0.21395	-0.357000	0.08175	-0.290000	0.09829	CGA		0.423	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		T	36202125	C	T	36202125	3	4	59	1	0	0	0	0	1	0	0	0	3560	884	31	1	31	1	CLSPN	1	36202125	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08	16759995	36202125	213048496	2	2977											
DPH2	1802	broad.mit.edu	37	1	44437736	44437736	+	Silent	SNP	T	T	C	rs151240561	byFrequency	TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:44437736T>C	ENST00000255108.3	+	4	1334	c.1162T>C	c.(1162-1164)Ttg>Ctg	p.L388L	ATP6V0B_ENST00000471859.2_5'Flank|ATP6V0B_ENST00000236067.4_5'Flank|ATP6V0B_ENST00000472174.2_5'Flank|DPH2_ENST00000412950.2_Silent_p.L253L|ATP6V0B_ENST00000532642.1_5'Flank|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	388					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.L388L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGCGGACTTATTGCCTGGTGA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1							,	5,4401	9.9+/-24.2	0,5,2198	59	56	57		,1162	-3.3	0	1	dbSNP_134	57	0,8600		0,0,4300	no	intron,coding-synonymous	DPH2	NM_001039589.1,NM_001384.4	,	0,5,6498	CC,CT,TT		0.0,0.1135,0.0384	,	,388/490	44437736	5,13001	2203	4300	6503	44210323	SO:0001819	synonymous_variant	1802			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1162T>C	1.37:g.44437736T>C			44210323	A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	ENST00000255108.3	37	CCDS504.1																																																																																				0.582	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		C	44437736	T	C	44437736	2	2	59	1	0	0	0	0	0	0	0	1	4720	1490	52	4		4	DPH2	1	44437736	Silent	SNP	T	TCGA-10-0926-01A-01W-0420-08	8235611	44437736	204812885	3	2978											
ZRANB2	9406	broad.mit.edu	37	1	71544345	71544345	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:71544345C>A	ENST00000370920.3	-	2	404	c.103G>T	c.(103-105)Ggt>Tgt	p.G35C	ZRANB2-AS2_ENST00000596952.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.G35C|ZRANB2-AS2_ENST00000455406.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	35					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G35C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TTACCCCGACCACATCGATTA	0.264																																																1	Substitution - Missense(1)	ovary(1)	1											60	64	62					1																	71544345		2196	4297	6493	71316933	SO:0001583	missense	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.103G>T	1.37:g.71544345C>A	ENSP00000359958:p.Gly35Cys		71316933	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763298	0.89932	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.57907	0.37;0.37	5.74	5.74	0.90152	Zinc finger, RanBP2-type (3);	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.79127	-0.1931	10	0.72032	D	0.01	.	19.5216	0.95187	0.0:1.0:0.0:0.0	.	35;35	O95218;O95218-2	ZRAB2_HUMAN;.	C	35	ENSP00000359958:G35C;ENSP00000254821:G35C	ENSP00000254821:G35C	G	-	1	0	ZRANB2	71316933	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.616000	0.67709	2.723000	0.93209	0.591000	0.81541	GGT		0.264	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		A	71544345	C	A	71544345	3	1	59	1	0	0	0	0	1	0	0	0	18223	594	21	3	963	3	ZRANB2	1	71544345	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08	27106609	71544345	177706276	4	2979											
CAMSAP1L1	23271	broad.mit.edu	37	1	200730072	200730072	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:200730072G>T	ENST00000236925.4	+	2	294	c.245G>T	c.(244-246)tGt>tTt	p.C82F	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.C82F|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.C82F			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	82					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.C82F(1)									GAACTATACTGTCGTGCTGGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											170	170	170					1																	200730072		2203	4300	6503	198996695	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.245G>T	1.37:g.200730072G>T	ENSP00000236925:p.Cys82Phe		198996695	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37		.	.	.	.	.	.	.	.	.	.	G	24.8	4.570709	0.86542	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.25414	1.8;1.9;1.8	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.996;0.999	T	0.61647	-0.7020	10	0.87932	D	0	-17.0555	19.3716	0.94490	0.0:0.0:1.0:0.0	.	82;82;82	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	F	82	ENSP00000351684:C82F;ENSP00000416800:C82F;ENSP00000236925:C82F	ENSP00000236925:C82F	C	+	2	0	CAMSAP1L1	198996695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.805000	0.96524	0.655000	0.94253	TGT		0.443	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		T	200730072	G	T	200730072	3	4	59	1	0	0	0	0	1	0	0	0	2612	1377	48	3	251	3	CAMSAP1L1	1	200730072	Missense_Mutation	SNP	G	TCGA-10-0926-01A-01W-0420-08	129185727	200730072	48520549	5	2980											
EXO1	9156	broad.mit.edu	37	1	242035397	242035397	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:242035397A>C	ENST00000366548.3	+	12	1924	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	EXO1_ENST00000348581.5_Missense_Mutation_p.K444T|EXO1_ENST00000518483.1_Missense_Mutation_p.K444T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	444	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.K444T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAGACCAAGAAAAATAGCTCT	0.363								Editing and processing nucleases																																								1	Substitution - Missense(1)	ovary(1)	1											46	46	46					1																	242035397		2203	4300	6503	240102020	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1331A>C	1.37:g.242035397A>C	ENSP00000355506:p.Lys444Thr		240102020	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	A	5.248	0.231168	0.09969	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.35048	1.33;1.33;1.33	5.83	2.2	0.27929	.	0.534275	0.20722	N	0.086894	T	0.28532	0.0706	M	0.63428	1.95	0.21675	N	0.999598	B;B;B	0.21147	0.031;0.052;0.031	B;B;B	0.23716	0.022;0.048;0.02	T	0.31166	-0.9953	10	0.17369	T	0.5	-1.1247	3.4252	0.07408	0.6394:0.1152:0.1339:0.1115	.	443;444;444	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	444	ENSP00000355506:K444T;ENSP00000311873:K444T;ENSP00000430251:K444T	ENSP00000311873:K444T	K	+	2	0	EXO1	240102020	1.000000	0.71417	0.516000	0.27786	0.119000	0.20118	0.762000	0.26503	-0.097000	0.12307	-1.162000	0.01777	AAA		0.363	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		C	242035397	A	C	242035397	3	2	59	1	0	0	0	0	1	0	0	0	5300	14	1	5	1365	5	EXO1	1	242035397	Missense_Mutation	SNP	A	TCGA-10-0926-01A-01W-0420-08	41305325	242035397	7215224	6	2981											
MRPS5	64969	broad.mit.edu	37	2	95766251	95766251	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr2:95766251C>T	ENST00000272418.2	-	10	1107	c.899G>A	c.(898-900)aGg>aAg	p.R300K		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	300					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R300K(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GATATGCGTCCTTTTAAATCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											150	157	154					2																	95766251		2203	4300	6503	95129978	SO:0001583	missense	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.899G>A	2.37:g.95766251C>T	ENSP00000272418:p.Arg300Lys		95129978	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	6.048	0.377130	0.11466	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.67	3.85	0.44370	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5, C-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.134947	0.64402	N	0.000005	T	0.36138	0.0956	N	0.16833	0.445	0.45883	D	0.998735	B	0.02656	0.0	B	0.11329	0.006	T	0.12915	-1.0529	9	0.08599	T	0.76	-28.5822	10.9743	0.47456	0.0:0.8428:0.0:0.1572	.	300	P82675	RT05_HUMAN	K	300	.	ENSP00000272418:R300K	R	-	2	0	MRPS5	95129978	0.975000	0.34042	1.000000	0.80357	0.914000	0.54420	0.827000	0.27421	1.397000	0.46682	0.591000	0.81541	AGG		0.328	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		T	95766251	C	T	95766251	3	4	59	1	0	0	0	0	1	0	0	0	9846	681	24	2	405	2	MRPS5	2	95766251	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08		95766251	147433122	7	2982											
BAZ2B	29994	broad.mit.edu	37	2	160289481	160289481	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr2:160289481C>T	ENST00000392783.2	-	9	2182	c.1687G>A	c.(1687-1689)Ggg>Agg	p.G563R	BAZ2B_ENST00000392782.1_Missense_Mutation_p.G561R|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G563R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G561R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G563R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTTCCTTCCCTTGACTATGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											196	182	187					2																	160289481		1909	4126	6035	159997727	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1687G>A	2.37:g.160289481C>T	ENSP00000376534:p.Gly563Arg		159997727	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570509	0.45798	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.92	5.92	0.95590	.	0.000000	0.37669	U	0.001981	T	0.68677	0.3027	L	0.41236	1.265	0.44282	D	0.997144	D;B;B;B;B	0.89917	1.0;0.047;0.01;0.01;0.006	D;B;B;B;B	0.85130	0.997;0.015;0.007;0.007;0.003	T	0.68988	-0.5264	10	0.62326	D	0.03	-8.9802	15.0866	0.72158	0.1417:0.8583:0.0:0.0	.	563;367;561;561;563	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	R	561;563;563;561;500	ENSP00000376533:G561R;ENSP00000376534:G563R;ENSP00000348087:G563R;ENSP00000339670:G561R	ENSP00000339670:G561R	G	-	1	0	BAZ2B	159997727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.112000	0.50368	2.818000	0.97014	0.655000	0.94253	GGG		0.448	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			T	160289481	C	T	160289481	3	4	59	1	0	0	0	0	1	0	0	0	1332	681	24	2	4935	2	BAZ2B	2	160289481	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08	64523230	160289481	82909892	8	2983											
CYP27A1	1593	broad.mit.edu	37	2	219677706	219677706	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr2:219677706C>T	ENST00000258415.4	+	5	1331	c.904C>T	c.(904-906)Cca>Tca	p.P302S		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	302					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.P302S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GGCAGCAGGGCCAGATGGCAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											76	78	78					2																	219677706		2203	4300	6503	219385950	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.904C>T	2.37:g.219677706C>T	ENSP00000258415:p.Pro302Ser		219385950	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	C	3.661	-0.069617	0.07228	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;D	0.83755	-1.01;-1.76	5.44	2.41	0.29592	.	0.638054	0.17143	N	0.185366	T	0.66877	0.2834	N	0.25201	0.72	0.27036	N	0.964133	B	0.25521	0.128	B	0.22386	0.039	T	0.52147	-0.8614	10	0.20046	T	0.44	-1.3191	6.1473	0.20293	0.155:0.6688:0.0:0.1762	.	302	Q02318	CP27A_HUMAN	S	302;208	ENSP00000258415:P302S;ENSP00000392671:P208S	ENSP00000258415:P302S	P	+	1	0	CYP27A1	219385950	0.000000	0.05858	0.685000	0.30070	0.036000	0.12997	-0.200000	0.09478	0.828000	0.34709	-0.182000	0.12963	CCA		0.562	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			T	219677706	C	T	219677706	3	4	59	1	0	0	0	0	1	0	0	0	4158	739	26	2	922	2	CYP27A1	2	219677706	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08	59388225	219677706	23521667	9	2984											
STXBP5L	9515	broad.mit.edu	37	3	120764381	120764381	+	Splice_Site	SNP	C	C	T	rs369496199		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr3:120764381C>T	ENST00000273666.6	+	5	740	c.469C>T	c.(469-471)Cga>Tga	p.R157*	STXBP5L_ENST00000471454.1_Splice_Site_p.R157*|STXBP5L_ENST00000497029.1_Splice_Site_p.R157*|STXBP5L_ENST00000472879.1_Splice_Site_p.R157*|STXBP5L_ENST00000492541.1_Splice_Site_p.R157*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	157					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R157*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAACCGGGAACGGTAAGAACC	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	3						C	stop/ARG	1,3619		0,1,1809	122	119	120		469	3.6	1	3		120	0,8140		0,0,4070	no	stop-gained-near-splice	STXBP5L	NM_014980.2		0,1,5879	TT,TC,CC		0.0,0.0276,0.0085		157/1187	120764381	1,11759	1810	4070	5880	122247071	SO:0001630	splice_region_variant	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.470+1C>T	3.37:g.120764381C>T			122247071	Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028016	0.54790	2.76E-4	0.0	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	.	.	.	5.42	3.61	0.41365	.	0.064526	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0304	13.925	0.63958	0.3938:0.6062:0.0:0.0	.	.	.	.	X	157	.	ENSP00000273666:R157X	R	+	1	2	STXBP5L	122247071	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.153000	0.42282	0.642000	0.30620	-0.158000	0.13435	CGA		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		Nonsense_Mutation	T	120764381	C	T	120764381	5	4	59	1	0	0	0	0	0	0	1	0	15359	550	19	1	483	1	STXBP5L	3	120764381	Splice_Site	SNP	C	TCGA-10-0926-01A-01W-0420-08		120764381	77258049	10	2985											
SPATA16	83893	broad.mit.edu	37	3	172643203	172643203	+	Silent	SNP	C	C	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr3:172643203C>A	ENST00000351008.3	-	7	1344	c.1161G>T	c.(1159-1161)ggG>ggT	p.G387G		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	387					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.G387G(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGTTTTTGAACCCAAGAGTCA	0.388																																																1	Substitution - coding silent(1)	ovary(1)	3											81	80	80					3																	172643203		2203	4300	6503	174125897	SO:0001819	synonymous_variant	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1161G>T	3.37:g.172643203C>A			174125897	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	CCDS3221.1																																																																																				0.388	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		A	172643203	C	A	172643203	2	1	59	1	0	0	0	0	0	0	0	1	15003	494	18	3		3	SPATA16	3	172643203	Silent	SNP	C	TCGA-10-0926-01A-01W-0420-08	51878822	172643203	25379227	11	2986											
LIPH	200879	broad.mit.edu	37	3	185251383	185251383	+	Missense_Mutation	SNP	C	C	T	rs371388993		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr3:185251383C>T	ENST00000296252.4	-	3	643	c.502G>A	c.(502-504)Gat>Aat	p.D168N	LIPH_ENST00000424591.2_Missense_Mutation_p.D168N	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	168					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.D168N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AGCCATCCATCGTACATCTCT	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		17436	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3						C	ASN/ASP	0,4406		0,0,2203	172	154	160		502	-7.8	0	3		160	1,8599	1.2+/-3.3	0,1,4299	no	missense	LIPH	NM_139248.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	168/452	185251383	1,13005	2203	4300	6503	186734077	SO:0001583	missense	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.502G>A	3.37:g.185251383C>T	ENSP00000296252:p.Asp168Asn		186734077	A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	C	5.272	0.235525	0.10023	0.0	1.16E-4	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.90732	-2.72;-2.72	5.3	-7.79	0.01218	Lipase, N-terminal (1);	0.500739	0.22494	N	0.059334	T	0.66025	0.2748	N	0.01086	-1.025	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.004	T	0.58651	-0.7599	10	0.02654	T	1	-0.3705	16.0646	0.80863	0.0:0.3018:0.0:0.6982	.	168;168	A2IBA6;Q8WWY8	.;LIPH_HUMAN	N	168	ENSP00000296252:D168N;ENSP00000396384:D168N	ENSP00000296252:D168N	D	-	1	0	LIPH	186734077	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-1.140000	0.03210	-2.033000	0.00925	-0.931000	0.02705	GAT		0.498	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			T	185251383	C	T	185251383	3	4	59	1	0	0	0	0	1	0	0	0	8824	884	31	1	885	1	LIPH	3	185251383	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08	12608180	185251383	12771047	12	2987											
APBB2	323	broad.mit.edu	37	4	40892443	40892443	+	Silent	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr4:40892443G>A	ENST00000295974.8	-	12	2093	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	APBB2_ENST00000513140.1_Silent_p.S467S|APBB2_ENST00000506352.1_Silent_p.S467S|APBB2_ENST00000508593.1_Silent_p.S489S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	488	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.S467S(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTGCAGCACGCTGCGGTCCA	0.622																																					Ovarian(3;20 75 16686 49997)											1	Substitution - coding silent(1)	ovary(1)	4											81	83	82					4																	40892443		2165	4272	6437	40587200	SO:0001819	synonymous_variant	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1464C>T	4.37:g.40892443G>A			40587200	B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.38|10.38	1.332984|1.332984	0.24167|0.24167	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513493|ENST00000513611	.|.	.|.	.|.	5.78|5.78	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.30665|0.30665	0.0772|0.0772	.|.	.|.	.|.	0.39001|0.39001	D|D	0.95934|0.95934	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36456|0.36456	-0.9747|-0.9747	4|4	.|.	.|.	.|.	-7.6985|-7.6985	0.7926|0.7926	0.01060|0.01060	0.3351:0.2777:0.1646:0.2227|0.3351:0.2777:0.1646:0.2227	.|.	.|.	.|.	.|.	V|C	25|458	.|.	.|.	A|R	-|-	2|1	0|0	APBB2|APBB2	40587200|40587200	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.986000|0.986000	0.74619|0.74619	-1.391000|-1.391000	0.02525|0.02525	-2.318000|-2.318000	0.00644|0.00644	-0.229000|-0.229000	0.12294|0.12294	GCG|CGT		0.622	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		A	40892443	G	A	40892443	2	1	59	1	0	0	0	0	0	0	0	1	761	1078	38	1		1	APBB2	4	40892443	Silent	SNP	G	TCGA-10-0926-01A-01W-0420-08		40892443	150261833	13	2988											
S100Z	170591	broad.mit.edu	37	5	76171221	76171221	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr5:76171221A>G	ENST00000317593.4	+	3	269	c.37A>G	c.(37-39)Att>Gtt	p.I13V	S100Z_ENST00000513010.1_Missense_Mutation_p.I13V	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	13	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.I13V(1)		large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		GGACACCATGATTAGAATCTT	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											58	60	59					5																	76171221		1981	4168	6149	76206977	SO:0001583	missense	170591			AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"S100 calcium binding proteins", "EF-hand domain containing"	30367	protein-coding gene	gene with protein product		610103	"S100 calcium binding protein, zeta"			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.37A>G	5.37:g.76171221A>G	ENSP00000320430:p.Ile13Val		76206977		Missense_Mutation	SNP	ENST00000317593.4	37	CCDS43333.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866755	0.72065	.	.	ENSG00000171643	ENST00000513010;ENST00000317593	T;T	0.16324	2.35;2.35	5.69	4.51	0.55191	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	.	.	.	0.41337	D	0.98727	P	0.40578	0.722	P	0.50617	0.646	T	0.01452	-1.1351	9	0.28530	T	0.3	.	12.7426	0.57261	0.8626:0.1374:0.0:0.0	.	13	Q8WXG8	S100Z_HUMAN	V	13	ENSP00000426768:I13V;ENSP00000320430:I13V	ENSP00000320430:I13V	I	+	1	0	S100Z	76206977	1.000000	0.71417	0.941000	0.38009	0.648000	0.38561	8.825000	0.92029	0.963000	0.38082	0.533000	0.62120	ATT		0.542	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368927.1	NM_130772		G	76171221	A	G	76171221	3	3	59	1	0	0	0	0	1	0	0	0	13795	333	12	4	39	4	S100Z	5	76171221	Missense_Mutation	SNP	A	TCGA-10-0926-01A-01W-0420-08		76171221	104744039	14	2989											
NMUR2	56923	broad.mit.edu	37	5	151783973	151783973	+	Silent	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr5:151783973G>A	ENST00000255262.3	-	1	867	c.702C>T	c.(700-702)gtC>gtT	p.V234V	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	234					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.V234V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGTAGTAGAGGACACTGATGA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	5											112	106	108					5																	151783973		2203	4300	6503	151764166	SO:0001819	synonymous_variant	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.702C>T	5.37:g.151783973G>A			151764166	Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	ENST00000255262.3	37	CCDS4321.1																																																																																				0.498	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		A	151783973	G	A	151783973	2	1	59	1	0	0	0	0	0	0	0	1	10507	1161	41	2		2	NMUR2	5	151783973	Silent	SNP	G	TCGA-10-0926-01A-01W-0420-08	75612752	151783973	29131287	15	2990											
LAMA2	3908	broad.mit.edu	37	6	129813141	129813141	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr6:129813141C>T	ENST00000421865.2	+	57	8043	c.7994C>T	c.(7993-7995)gCt>gTt	p.A2665V	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2665	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.A2665V(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTTGGGGGTGCTCCACCTGAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											80	82	81					6																	129813141		2203	4300	6503	129854834	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7994C>T	6.37:g.129813141C>T	ENSP00000400365:p.Ala2665Val		129854834	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	0.565	-0.843635	0.02671	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.76060	-0.99	5.55	4.68	0.58851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.153716	0.64402	D	0.000015	T	0.38852	0.1056	N	0.21142	0.635	0.09310	N	1	B;B	0.33448	0.412;0.412	B;B	0.30105	0.111;0.111	T	0.14671	-1.0464	9	.	.	.	.	10.8758	0.46911	0.0:0.8558:0.0:0.1442	.	2666;2665	A6NF00;P24043	.;LAMA2_HUMAN	V	2665;2664;2665;683	ENSP00000400365:A2665V	.	A	+	2	0	LAMA2	129854834	0.816000	0.29132	0.139000	0.22197	0.010000	0.07245	1.779000	0.38624	1.482000	0.48325	-0.140000	0.14226	GCT		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129813141	C	T	129813141	3	4	59	1	0	0	0	0	1	0	0	0	8606	797	28	2	8220	2	LAMA2	6	129813141	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08		129813141	41301926	16	2991											
GPNMB	10457	broad.mit.edu	37	7	23313832	23313832	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr7:23313832G>C	ENST00000381990.2	+	11	1869	c.1708G>C	c.(1708-1710)Gga>Cga	p.G570R	GPNMB_ENST00000258733.4_Missense_Mutation_p.G558R|GPNMB_ENST00000539136.1_Missense_Mutation_p.G459R|GPNMB_ENST00000453162.2_Missense_Mutation_p.G512R|GPNMB_ENST00000478451.1_3'UTR	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	570					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.G570R(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AGAATTTAAAGGAGTTTCTTA	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											70	72	71					7																	23313832		2203	4300	6503	23280357	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1708G>C	7.37:g.23313832G>C	ENSP00000371420:p.Gly570Arg		23280357	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251846	0.59212	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.16073	2.41;2.43;2.37;2.43	5.73	3.92	0.45320	.	0.456360	0.20257	N	0.095951	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B;B;B;B	0.22683	0.073;0.073;0.044;0.073	B;B;B;B	0.25884	0.064;0.064;0.029;0.064	T	0.24548	-1.0157	10	0.87932	D	0	-0.0068	7.1898	0.25818	0.0861:0.0:0.7446:0.1693	.	459;512;570;558	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	R	558;605;570;453;459;512	ENSP00000258733:G558R;ENSP00000371420:G570R;ENSP00000445266:G459R;ENSP00000405586:G512R	ENSP00000258733:G558R	G	+	1	0	GPNMB	23280357	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	0.355000	0.20163	0.760000	0.33108	0.561000	0.74099	GGA		0.418	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		C	23313832	G	C	23313832	3	2	59	1	0	0	0	0	1	0	0	0	6620	1001	35	3	1750	3	GPNMB	7	23313832	Missense_Mutation	SNP	G	TCGA-10-0926-01A-01W-0420-08		23313832	135824831	17	2992											
ABCB1	5243	broad.mit.edu	37	7	87170747	87170747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr7:87170747G>A	ENST00000265724.3	-	19	2662	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.R685*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	749	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R749*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTATTCTGTCGTTTTGTTTCA	0.318																																																1	Substitution - Nonsense(1)	ovary(1)	7											105	107	107					7																	87170747		2203	4300	6503	87008683	SO:0001587	stop_gained	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2245C>T	7.37:g.87170747G>A	ENSP00000265724:p.Arg749*		87008683	A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	38	7.084854	0.98051	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.65	2.22	0.28083	.	0.247117	0.37053	N	0.002279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5259	13.2116	0.59828	0.0:0.0:0.3273:0.6727	.	.	.	.	X	530;749;685	.	ENSP00000265724:R749X	R	-	1	2	ABCB1	87008683	0.040000	0.19996	0.211000	0.23655	0.066000	0.16364	0.910000	0.28571	0.762000	0.33152	0.655000	0.94253	CGA		0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87170747	G	A	87170747	4	1	59	1	0	0	0	0	0	1	0	0	40	1153	40	1	1641	1	ABCB1	7	87170747	Nonsense_Mutation	SNP	G	TCGA-10-0926-01A-01W-0420-08	63856915	87170747	71967916	18	2993											
KIF24	347240	broad.mit.edu	37	9	34257952	34257952	+	Silent	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr9:34257952C>T	ENST00000402558.2	-	10	1677	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	KIF24_ENST00000379174.3_Silent_p.K417K|KIF24_ENST00000379166.2_Silent_p.K551K|KIF24_ENST00000345050.2_Silent_p.K417K			Q5T7B8	KIF24_HUMAN	kinesin family member 24	551					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K33K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AAGTGCAACACTTAATGCCTT	0.393																																																1	Substitution - coding silent(1)	ovary(1)	9											114	125	121					9																	34257952		2203	4300	6503	34247952	SO:0001819	synonymous_variant	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1653G>A	9.37:g.34257952C>T			34247952	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	CCDS6551.2																																																																																				0.393	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			T	34257952	C	T	34257952	2	4	59	1	0	0	0	0	0	0	0	1	8292	564	20	2		2	KIF24	9	34257952	Silent	SNP	C	TCGA-10-0926-01A-01W-0420-08		34257952	106955479	19	2994											
LPAR1	1902	broad.mit.edu	37	9	113637932	113637932	+	Silent	SNP	G	G	A	rs149818114		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr9:113637932G>A	ENST00000374431.3	-	5	1247	c.864C>T	c.(862-864)gaC>gaT	p.D288D	LPAR1_ENST00000541779.1_Silent_p.D289D|LPAR1_ENST00000358883.4_Silent_p.D288D|LPAR1_ENST00000374430.2_Silent_p.D288D|LPAR1_ENST00000538760.1_Silent_p.D289D	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	288					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.D288D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGGCCAGCACGTCGCACTGTG	0.488													G|||	1	0.000199681	0	0	5008	,	,		16925	0.001		0	False		,,,				2504	0				NSCLC(115;661 2323 9836 34256)											1	Substitution - coding silent(1)	ovary(1)	9						G	,	1,4405	2.1+/-5.4	0,1,2202	97	96	96		864,864	-6	0.2	9	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPAR1	NM_001401.3,NM_057159.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	288/365,288/365	113637932	1,13005	2203	4300	6503	112677753	SO:0001819	synonymous_variant	1902			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.864C>T	9.37:g.113637932G>A			112677753	B4DK36|O00656|O00722|P78351	Silent	SNP	ENST00000374431.3	37	CCDS6777.1																																																																																				0.488	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		A	113637932	G	A	113637932	2	1	59	1	0	0	0	0	0	0	0	1	8904	1136	40	1		1	LPAR1	9	113637932	Silent	SNP	G	TCGA-10-0926-01A-01W-0420-08	79379980	113637932	27575499	20	2995											
HBD	3045	broad.mit.edu	37	11	5255416	5255416	+	Missense_Mutation	SNP	C	C	G	rs281864505		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr11:5255416C>G	ENST00000380299.3	-	2	334	c.120G>C	c.(118-120)caG>caC	p.Q40H	HBD_ENST00000292901.3_Missense_Mutation_p.Q40H	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	40					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.Q40H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGAACCTCTGGGTCCAAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	11											100	98	99					11																	5255416		2201	4298	6499	5211992	SO:0001583	missense	3045			AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.120G>C	11.37:g.5255416C>G	ENSP00000369654:p.Gln40His		5211992	Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774791	0.70107	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.94687	-3.26;-3.49;-3.26	4.45	2.56	0.30785	Globin-like (1);Globin, structural domain (1);	0.222160	0.47852	D	0.000210	D	0.96577	0.8883	M	0.92077	3.27	0.58432	D	0.999995	P	0.46987	0.888	P	0.54100	0.742	D	0.96452	0.9335	10	0.72032	D	0.01	-3.6858	10.1864	0.43000	0.0:0.823:0.0:0.177	.	40	P02042	HBD_HUMAN	H	40	ENSP00000292901:Q40H;ENSP00000369654:Q40H;ENSP00000393810:Q40H	ENSP00000292901:Q40H	Q	-	3	2	HBD	5211992	1.000000	0.71417	0.978000	0.43139	0.847000	0.48162	2.163000	0.42377	1.224000	0.43551	0.585000	0.79938	CAG		0.512	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		G	5255416	C	G	5255416	3	3	59	1	0	0	0	0	1	0	0	0	6979	912	32	3	331	3	HBD	11	5255416	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08		5255416	129751100	21	2996											
ZFPL1	7542	broad.mit.edu	37	11	64855506	64855506	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr11:64855506C>T	ENST00000294258.3	+	8	1005	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	285					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R285C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCTCATGTCTCGCCTAGGCCG	0.682																																																1	Substitution - Missense(1)	ovary(1)	11											81	81	81					11																	64855506		2201	4297	6498	64612082	SO:0001583	missense	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.853C>T	11.37:g.64855506C>T	ENSP00000294258:p.Arg285Cys		64612082	A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887873	0.72410	.	.	ENSG00000162300	ENST00000294258	T	0.49139	0.79	5.14	5.14	0.70334	.	0.133602	0.49916	D	0.000131	T	0.54111	0.1838	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	P	0.60949	0.881	T	0.54997	-0.8209	10	0.66056	D	0.02	-30.5236	11.0648	0.47968	0.1849:0.8151:0.0:0.0	.	285	O95159	ZFPL1_HUMAN	C	285	ENSP00000294258:R285C	ENSP00000294258:R285C	R	+	1	0	ZFPL1	64612082	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.759000	0.62227	2.667000	0.90743	0.655000	0.94253	CGC		0.682	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		T	64855506	C	T	64855506	3	4	59	1	0	0	0	0	1	0	0	0	17656	884	31	1	879	1	ZFPL1	11	64855506	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08	59600090	64855506	70151010	22	2997											
OR2AT4	341152	broad.mit.edu	37	11	74800171	74800171	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr11:74800171G>T	ENST00000305159.3	-	1	628	c.588C>A	c.(586-588)gaC>gaA	p.D196E		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D196E(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGGGGGTGGTGTCAGAGCAGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	11											57	51	53					11																	74800171		2200	4293	6493	74477819	SO:0001583	missense	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.588C>A	11.37:g.74800171G>T	ENSP00000304846:p.Asp196Glu		74477819	B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660523	0.67586	.	.	ENSG00000171561	ENST00000305159	T	0.39997	1.05	5.26	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33772	U	0.004566	T	0.56688	0.2002	M	0.62088	1.915	0.28559	N	0.911221	D	0.76494	0.999	D	0.74348	0.983	T	0.51616	-0.8683	10	0.87932	D	0	.	9.2181	0.37360	0.1927:0.0:0.8073:0.0	.	196	A6NND4	O2AT4_HUMAN	E	196	ENSP00000304846:D196E	ENSP00000304846:D196E	D	-	3	2	OR2AT4	74477819	0.433000	0.25562	0.997000	0.53966	0.915000	0.54546	0.552000	0.23376	1.189000	0.43028	0.650000	0.86243	GAC		0.567	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		T	74800171	G	T	74800171	3	4	59	1	0	0	0	0	1	0	0	0	10987	1368	48	3	377	3	OR2AT4	11	74800171	Missense_Mutation	SNP	G	TCGA-10-0926-01A-01W-0420-08	9944665	74800171	60206345	23	2998											
ATP2B1	490	broad.mit.edu	37	12	89997553	89997553	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr12:89997553C>G	ENST00000428670.3	-	17	3240	c.2784G>C	c.(2782-2784)atG>atC	p.M928I	ATP2B1_ENST00000261173.2_Missense_Mutation_p.M928I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.M671I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.M928I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.M928I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	928					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.M928I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TATTCTTCATCATTGTACGTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											131	122	125					12																	89997553		2203	4300	6503	88521684	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2784G>C	12.37:g.89997553C>G	ENSP00000392043:p.Met928Ile		88521684	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110404	0.94292	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98588	0.9528	M	0.92923	3.36	0.80722	D	1	D;D;D	0.67145	0.962;0.962;0.996	D;P;P	0.66716	0.946;0.859;0.873	D	0.98837	1.0753	10	0.66056	D	0.02	-27.3567	20.3242	0.98691	0.0:1.0:0.0:0.0	.	928;928;928	P20020-3;P20020-2;P20020-6	.;.;.	I	928;928;928;928;671	ENSP00000261173:M928I;ENSP00000343599:M928I;ENSP00000352054:M928I;ENSP00000392043:M928I;ENSP00000376869:M671I	ENSP00000261173:M928I	M	-	3	0	ATP2B1	88521684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.882000	0.98803	0.655000	0.94253	ATG		0.403	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		G	89997553	C	G	89997553	3	3	59	1	0	0	0	0	1	0	0	0	1139	826	29	3	1056	3	ATP2B1	12	89997553	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08		89997553	43854342	24	2999											
ATP6V0A2	23545	broad.mit.edu	37	12	124220090	124220090	+	Silent	SNP	C	C	T	rs144293398		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr12:124220090C>T	ENST00000330342.3	+	8	992	c.744C>T	c.(742-744)caC>caT	p.H248H		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	248					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.H248H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACCACTGCCACGTGTACCCCT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	12						C		0,4406		0,0,2203	93	81	85		744	-0.2	0	12	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP6V0A2	NM_012463.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		248/857	124220090	1,13005	2203	4300	6503	122786043	SO:0001819	synonymous_variant	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.744C>T	12.37:g.124220090C>T			122786043	A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	CCDS9254.1																																																																																				0.542	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		T	124220090	C	T	124220090	2	4	59	1	0	0	0	0	0	0	0	1	1169	535	19	1		1	ATP6V0A2	12	124220090	Silent	SNP	C	TCGA-10-0926-01A-01W-0420-08	34222537	124220090	9631805	25	3000											
GPC5	2262	broad.mit.edu	37	13	92345782	92345782	+	Missense_Mutation	SNP	C	C	T	rs373344201		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr13:92345782C>T	ENST00000377067.3	+	3	1039	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	223					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R223C(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCTGCCCAGCCGCACTTTTCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	13						C	CYS/ARG	0,4406		0,0,2203	48	44	46		667	5.2	1	13		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPC5	NM_004466.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	223/573	92345782	1,13005	2203	4300	6503	91143783	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.667C>T	13.37:g.92345782C>T	ENSP00000366267:p.Arg223Cys		91143783	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650021	0.67472	0.0	1.16E-4	ENSG00000179399	ENST00000377067	T	0.62232	0.04	5.23	5.23	0.72850	.	0.054231	0.64402	D	0.000002	T	0.80788	0.4690	M	0.86864	2.845	0.48341	D	0.999636	D	0.89917	1.0	D	0.87578	0.998	D	0.83958	0.0320	10	0.87932	D	0	.	12.8321	0.57752	0.1632:0.8368:0.0:0.0	.	223	P78333	GPC5_HUMAN	C	223	ENSP00000366267:R223C	ENSP00000366267:R223C	R	+	1	0	GPC5	91143783	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.267000	0.51577	2.428000	0.82296	0.467000	0.42956	CGC		0.522	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		T	92345782	C	T	92345782	3	4	59	1	0	0	0	0	1	0	0	0	6601	652	23	1	677	1	GPC5	13	92345782	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08		92345782	22824096	26	3001											
SLC10A2	6555	broad.mit.edu	37	13	103703768	103703768	+	Silent	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr13:103703768C>T	ENST00000245312.3	-	4	1196	c.600G>A	c.(598-600)gcG>gcA	p.A200A		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	200					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.A200A(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGATGGCGCCCGCGATGGACC	0.438																																																1	Substitution - coding silent(1)	ovary(1)	13											56	56	56					13																	103703768		2203	4300	6503	102501769	SO:0001819	synonymous_variant	6555			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.600G>A	13.37:g.103703768C>T			102501769	A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	CCDS9506.1																																																																																				0.438	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			T	103703768	C	T	103703768	2	4	59	1	0	0	0	0	0	0	0	1	14377	639	23	1		1	SLC10A2	13	103703768	Silent	SNP	C	TCGA-10-0926-01A-01W-0420-08	11357986	103703768	11466110	27	3002											
MCF2L	23263	broad.mit.edu	37	13	113699656	113699656	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr13:113699656C>T	ENST00000375608.3	+	5	498	c.440C>T	c.(439-441)gCg>gTg	p.A147V	MCF2L_ENST00000375597.4_Missense_Mutation_p.A115V|MCF2L_ENST00000397030.1_Missense_Mutation_p.A150V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A147V|MCF2L_ENST00000434480.2_Missense_Mutation_p.A123V|MCF2L_ENST00000423482.2_Missense_Mutation_p.A115V|MCF2L_ENST00000375601.3_Missense_Mutation_p.A121V|MCF2L_ENST00000535094.2_Missense_Mutation_p.A117V|MCF2L_ENST00000421756.1_Missense_Mutation_p.A121V|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000397021.1_Missense_Mutation_p.A79V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A174V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	147	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A115V(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCGTGAAGGCGTCCGTCCTG	0.652																																																1	Substitution - Missense(1)	ovary(1)	13											66	61	63					13																	113699656		2203	4300	6503	112747657	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.440C>T	13.37:g.113699656C>T	ENSP00000364758:p.Ala147Val		112747657	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.	.	.	.	.	.	.	.	.	.	C	23.5	4.421054	0.83559	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397021;ENST00000423251	T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.29	4.29	0.51040	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.058796	0.64402	D	0.000002	T	0.75664	0.3880	M	0.76574	2.34	0.29653	N	0.843804	D;D;D;D;D;D	0.71674	0.997;0.997;0.995;0.998;0.971;0.998	P;P;P;D;P;D	0.67382	0.847;0.847;0.856;0.951;0.642;0.951	T	0.73069	-0.4099	10	0.56958	D	0.05	.	12.3996	0.55405	0.0:1.0:0.0:0.0	.	115;117;174;79;115;147	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	V	147;147;174;150;117;117;121;121;123;88;115;115;79;37	ENSP00000364758:A147V;ENSP00000401422:A147V;ENSP00000364754:A174V;ENSP00000380225:A150V;ENSP00000440374:A117V;ENSP00000397285:A121V;ENSP00000364751:A121V;ENSP00000407722:A123V;ENSP00000386551:A88V;ENSP00000405639:A115V;ENSP00000364747:A115V;ENSP00000405996:A37V	ENSP00000364747:A115V	A	+	2	0	MCF2L	112747657	0.993000	0.37304	0.957000	0.39632	0.742000	0.42306	3.213000	0.51153	2.373000	0.80994	0.561000	0.74099	GCG		0.652	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			T	113699656	C	T	113699656	3	4	59	1	0	0	0	0	1	0	0	0	9379	768	27	1	630	1	MCF2L	13	113699656	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08	9995888	113699656	1470222	28	3003											
PELI2	57161	broad.mit.edu	37	14	56763463	56763463	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr14:56763463G>A	ENST00000267460.4	+	6	1128	c.842G>A	c.(841-843)cGg>cAg	p.R281Q		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	281					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.R281Q(2)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AACGCCGCCCGGCCTCAGTGT	0.582																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	14											43	46	45					14																	56763463		2203	4300	6503	55833216	SO:0001583	missense	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.842G>A	14.37:g.56763463G>A	ENSP00000267460:p.Arg281Gln		55833216	B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511619	0.96402	.	.	ENSG00000139946	ENST00000267460	T	0.53857	0.6	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.81353	-0.0971	10	0.72032	D	0.01	-28.749	19.2373	0.93866	0.0:0.0:1.0:0.0	.	281	Q9HAT8	PELI2_HUMAN	Q	281	ENSP00000267460:R281Q	ENSP00000267460:R281Q	R	+	2	0	PELI2	55833216	1.000000	0.71417	0.803000	0.32268	0.986000	0.74619	9.855000	0.99526	2.557000	0.86248	0.555000	0.69702	CGG		0.582	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			A	56763463	G	A	56763463	3	1	59	1	0	0	0	0	1	0	0	0	11722	1116	39	1	864	1	PELI2	14	56763463	Missense_Mutation	SNP	G	TCGA-10-0926-01A-01W-0420-08		56763463	50586077	29	3004											
KIAA1409	57578	broad.mit.edu	37	14	94103632	94103632	+	Silent	SNP	A	A	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr14:94103632A>G	ENST00000393151.2	+	33	5904	c.5904A>G	c.(5902-5904)ccA>ccG	p.P1968P	UNC79_ENST00000553484.1_Silent_p.P1990P|UNC79_ENST00000555664.1_Silent_p.P1929P|UNC79_ENST00000256339.4_Silent_p.P1791P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1968					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1791P(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						agggacagccattgaggatga	0.502																																																1	Substitution - coding silent(1)	ovary(1)	14											132	95	108					14																	94103632		2203	4300	6503	93173385	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5904A>G	14.37:g.94103632A>G			93173385	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.502	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		G	94103632	A	G	94103632	2	3	59	1	0	0	0	0	0	0	0	1	8230	204	8	4		4	KIAA1409	14	94103632	Silent	SNP	A	TCGA-10-0926-01A-01W-0420-08	37340169	94103632	13245908	30	3005											
SALL1	6299	broad.mit.edu	37	16	51175937	51175937	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr16:51175937T>G	ENST00000251020.4	-	2	229	c.196A>C	c.(196-198)Act>Cct	p.T66P	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	66					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T66P(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGATTTTTAGTACAGTTCTTC	0.473																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - Missense(1)	ovary(1)	16											80	87	85					16																	51175937		2198	4300	6498	49733438	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.196A>C	16.37:g.51175937T>G	ENSP00000251020:p.Thr66Pro		49733438	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.205322	0.58234	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.49432	0.78	5.37	5.37	0.77165	.	0.044847	0.85682	D	0.000000	T	0.54271	0.1848	M	0.67953	2.075	0.80722	D	1	D	0.54397	0.966	P	0.47299	0.543	T	0.61237	-0.7103	10	0.66056	D	0.02	.	15.373	0.74581	0.0:0.0:0.0:1.0	.	66	Q9NSC2	SALL1_HUMAN	P	66	ENSP00000251020:T66P	ENSP00000251020:T66P	T	-	1	0	SALL1	49733438	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.004000	0.63966	2.022000	0.59522	0.454000	0.30748	ACT		0.473	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		G	51175937	T	G	51175937	3	3	59	1	0	0	0	0	1	0	0	0	13813	1638	57	5	3786	5	SALL1	16	51175937	Missense_Mutation	SNP	T	TCGA-10-0926-01A-01W-0420-08		51175937	39178816	31	3006											
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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"	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM942135	TP53	M	rs148924904						53	54	53					17																	7578442		2203	4300	6503	7519167	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys		7519167	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	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578442	T	C	7578442	3	2	59	1	0	0	0	0	1	0	0	0	16381	1638	57	4	810	4	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-10-0926-01A-01W-0420-08		7578442	73616768	32	3007											
MED1	5469	broad.mit.edu	37	17	37565611	37565611	+	Missense_Mutation	SNP	C	C	T	rs369612086		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr17:37565611C>T	ENST00000300651.6	-	17	3086	c.2863G>A	c.(2863-2865)Ggt>Agt	p.G955S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.G955S(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGTAAAGGACCCTGACTACCA	0.478										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)											1	Substitution - Missense(1)	ovary(1)	17						C	SER/GLY	0,4406		0,0,2203	79	77	78		2863	4.6	1	17		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	MED1	NM_004774.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	955/1582	37565611	1,13005	2203	4300	6503	34819137	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2863G>A	17.37:g.37565611C>T	ENSP00000300651:p.Gly955Ser		34819137	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.783790	0.00628	0.0	1.16E-4	ENSG00000125686	ENST00000300651	T	0.19938	2.11	5.65	4.58	0.56647	.	.	.	.	.	T	0.06826	0.0174	N	0.01576	-0.805	0.30646	N	0.755945	B	0.02656	0.0	B	0.01281	0.0	T	0.20538	-1.0272	9	0.02654	T	1	-4.581	11.0004	0.47602	0.0:0.0734:0.0:0.9266	.	955	Q15648	MED1_HUMAN	S	955	ENSP00000300651:G955S	ENSP00000300651:G955S	G	-	1	0	MED1	34819137	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	4.491000	0.60326	1.164000	0.42652	-0.302000	0.09304	GGT		0.478	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		T	37565611	C	T	37565611	3	4	59	1	0	0	0	0	1	0	0	0	9425	623	22	2	1886	2	MED1	17	37565611	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08	29987169	37565611	43629599	33	3008											
FCGBP	8857	broad.mit.edu	37	19	40362795	40362795	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr19:40362795C>T	ENST00000221347.6	-	32	15282	c.15275G>A	c.(15274-15276)cGc>cAc	p.R5092H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5092						extracellular vesicular exosome (GO:0070062)		p.R5092H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCAGGCTGCGGCACAGGAA	0.652																																																1	Substitution - Missense(1)	ovary(1)	19											75	76	75					19																	40362795		2203	4300	6503	45054635	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15275G>A	19.37:g.40362795C>T	ENSP00000221347:p.Arg5092His		45054635	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	c	12.68	2.009741	0.35415	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	4.92	0.408	0.16377	Uncharacterised domain, cysteine-rich (2);	0.570198	0.17153	N	0.184966	T	0.69700	0.3140	L	0.55213	1.73	0.09310	N	0.999999	P	0.43231	0.801	B	0.41571	0.36	T	0.60047	-0.7339	10	0.44086	T	0.13	.	7.4216	0.27075	0.0:0.5459:0.0:0.4541	.	5092	Q9Y6R7	FCGBP_HUMAN	H	5092	ENSP00000221347:R5092H	ENSP00000221347:R5092H	R	-	2	0	FCGBP	45054635	0.000000	0.05858	0.899000	0.35326	0.579000	0.36224	-0.513000	0.06305	0.027000	0.15297	0.457000	0.33378	CGC		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40362795	C	T	40362795	3	4	59	1	0	0	0	0	1	0	0	0	5778	768	27	1	962	1	FCGBP	19	40362795	Missense_Mutation	SNP	C	TCGA-10-0926-01A-01W-0420-08		40362795	18766188	34	3009											
HUWE1	10075	broad.mit.edu	37	X	53571652	53571652	+	Missense_Mutation	SNP	A	A	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:53571652A>T	ENST00000342160.3	-	71	11577	c.11120T>A	c.(11119-11121)cTg>cAg	p.L3707Q	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.L3707Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3707					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L3597Q(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATAGAAGGCAGCTGGAGCTC	0.532																																																1	Substitution - Missense(1)	ovary(1)	X											90	72	78					X																	53571652		2203	4300	6503	53588377	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11120T>A	X.37:g.53571652A>T	ENSP00000340648:p.Leu3707Gln		53588377	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	-	12.28	1.889334	0.33348	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.57907	0.37;0.37	5.66	5.66	0.87406	.	0.089921	0.44097	N	0.000489	T	0.71298	0.3323	M	0.76727	2.345	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;D;D	0.78314	0.986;0.979;0.991	T	0.73369	-0.4004	10	0.49607	T	0.09	.	13.8449	0.63461	1.0:0.0:0.0:0.0	.	544;3707;3691	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	Q	3707	ENSP00000340648:L3707Q;ENSP00000262854:L3707Q	ENSP00000262854:L3707Q	L	-	2	0	HUWE1	53588377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.393000	0.90182	1.914000	0.55421	0.433000	0.28618	CTG		0.532	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53571652	A	T	53571652	3	4	59	1	0	0	0	0	1	0	0	0	7461	188	7	5	2056	5	HUWE1	23	53571652	Missense_Mutation	SNP	A	TCGA-10-0926-01A-01W-0420-08		53571652	101698908	35	3010											
TEX11	56159	broad.mit.edu	37	X	69826840	69826840	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:69826840A>G	ENST00000395889.2	-	24	2119	c.1964T>C	c.(1963-1965)aTg>aCg	p.M655T	TEX11_ENST00000344304.3_Missense_Mutation_p.M655T|TEX11_ENST00000374333.2_Missense_Mutation_p.M640T|TEX11_ENST00000374320.2_Missense_Mutation_p.M330T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	655					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.M640T(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTCTCTCATCATCACTGGATC	0.313																																																1	Substitution - Missense(1)	ovary(1)	X											58	53	54					X																	69826840		2202	4293	6495	69743565	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1964T>C	X.37:g.69826840A>G	ENSP00000379226:p.Met655Thr		69743565	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.859239	0.00552	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.1	0.191	0.15130	.	0.665890	0.14017	N	0.347026	T	0.12860	0.0312	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23440	-1.0188	9	.	.	.	1.8766	2.9517	0.05864	0.3628:0.0:0.4404:0.1968	.	640;655	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	640;655;330;655	ENSP00000363453:M640T;ENSP00000379226:M655T;ENSP00000363440:M330T;ENSP00000340995:M655T	.	M	-	2	0	TEX11	69743565	0.001000	0.12720	0.037000	0.18230	0.397000	0.30659	-0.178000	0.09782	-0.332000	0.08489	-0.292000	0.09595	ATG		0.313	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			G	69826840	A	G	69826840	3	3	59	1	0	0	0	0	1	0	0	0	15774	217	8	4	890	4	TEX11	23	69826840	Missense_Mutation	SNP	A	TCGA-10-0926-01A-01W-0420-08	16255188	69826840	85443720	36	3011											
COL4A6	1288	broad.mit.edu	37	X	107431205	107431205	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:107431205G>T	ENST00000372216.4	-	22	1743	c.1643C>A	c.(1642-1644)cCa>cAa	p.P548Q	COL4A6_ENST00000334504.7_Missense_Mutation_p.P547Q|COL4A6_ENST00000545689.1_Missense_Mutation_p.P547Q|COL4A6_ENST00000538570.1_Missense_Mutation_p.P547Q|COL4A6_ENST00000394872.2_Missense_Mutation_p.P548Q	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	548	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P547Q(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTGAGAATTGGTTCCCCCTT	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - Missense(1)	ovary(1)	X											94	93	93					X																	107431205		2203	4300	6503	107317861	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1643C>A	X.37:g.107431205G>T	ENSP00000361290:p.Pro548Gln		107317861	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789832	0.16258	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.05	5.05	0.67936	.	0.361524	0.20439	N	0.092302	D	0.96015	0.8702	L	0.41906	1.305	0.09310	N	1	P;P;P;P	0.52061	0.95;0.95;0.928;0.911	P;P;P;P	0.56648	0.702;0.63;0.803;0.702	D	0.91080	0.4899	10	0.32370	T	0.25	.	15.9399	0.79745	0.0:0.0:1.0:0.0	.	547;547;548;547	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	Q	548;547;548;547;547;547	ENSP00000361290:P548Q;ENSP00000334733:P547Q;ENSP00000378340:P548Q;ENSP00000443707:P547Q;ENSP00000445236:P547Q	ENSP00000334733:P547Q	P	-	2	0	COL4A6	107317861	0.587000	0.26791	0.005000	0.12908	0.078000	0.17371	4.291000	0.59025	2.427000	0.82271	0.513000	0.50165	CCA		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			T	107431205	G	T	107431205	3	4	59	1	0	0	0	0	1	0	0	0	3695	1348	47	3	3528	3	COL4A6	23	107431205	Missense_Mutation	SNP	G	TCGA-10-0926-01A-01W-0420-08	37604365	107431205	47839355	37	3012											
NKRF	55922	broad.mit.edu	37	X	118723741	118723741	+	Silent	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:118723741G>A	ENST00000371527.1	-	2	2299	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	NKRF_ENST00000304449.5_Silent_p.I549I|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.I564I	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	549					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.I549I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TATCTTCTTTGATTTGCTGTT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	X											200	177	185					X																	118723741		2203	4300	6503	118607769	SO:0001819	synonymous_variant	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1647C>T	X.37:g.118723741G>A			118607769	G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	CCDS35375.1																																																																																				0.433	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		A	118723741	G	A	118723741	2	1	59	1	0	0	0	0	0	0	0	1	10447	1280	45	2		2	NKRF	23	118723741	Silent	SNP	G	TCGA-10-0926-01A-01W-0420-08	11292536	118723741	36546819	38	3013											
MAP7D3	79649	broad.mit.edu	37	X	135302950	135302950	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:135302950G>T	ENST00000316077.9	-	16	2680	c.2460C>A	c.(2458-2460)gaC>gaA	p.D820E	MAP7D3_ENST00000370661.1_Missense_Mutation_p.D785E|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.D802E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	820					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.D1117E(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GTATTGAAGTGTCTTTCATGC	0.358																																																1	Substitution - Missense(1)	ovary(1)	X											184	169	174					X																	135302950		1831	4077	5908	135130616	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2460C>A	X.37:g.135302950G>T	ENSP00000318086:p.Asp820Glu		135130616	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	7.330	0.618795	0.14129	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.18016	2.24;3.7;3.7;2.27	3.73	-1.53	0.08611	.	.	.	.	.	T	0.06872	0.0175	N	0.24115	0.695	0.09310	N	1	P;P;B;P	0.39181	0.663;0.551;0.416;0.551	B;B;B;B	0.32149	0.141;0.135;0.064;0.135	T	0.24154	-1.0168	9	0.26408	T	0.33	-14.5836	0.6101	0.00759	0.3342:0.168:0.3243:0.1735	.	802;779;820;785	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	E	785;820;802;779	ENSP00000359695:D785E;ENSP00000318086:D820E;ENSP00000359697:D802E;ENSP00000359694:D779E	ENSP00000318086:D820E	D	-	3	2	MAP7D3	135130616	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.477000	0.06583	-0.521000	0.06426	0.529000	0.55759	GAC		0.358	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			T	135302950	G	T	135302950	3	4	59	1	0	0	0	0	1	0	0	0	9269	1368	48	3	182	3	MAP7D3	23	135302950	Missense_Mutation	SNP	G	TCGA-10-0926-01A-01W-0420-08	16579209	135302950	19967610	39	3014											
ARID1A	8289	hgsc.bcm.edu	37	1	27089611	27089611	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr1:27089611G>T	ENST00000324856.7	+	8	2938	c.2567G>T	c.(2566-2568)gGg>gTg	p.G856V	ARID1A_ENST00000374152.2_Missense_Mutation_p.G473V|ARID1A_ENST00000457599.2_Missense_Mutation_p.G856V|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	856					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G856V(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCCCTCCAGGGAGGATGAGT	0.612			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Missense(1)	ovary(1)	1											88	71	77					1																	27089611		2203	4300	6503	26962198	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2567G>T	1.37:g.27089611G>T	ENSP00000320485:p.Gly856Val		26962198	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037789	0.75617	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03152	4.09;4.08;4.03	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	L	0.54323	1.7	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.995	P;P;P	0.60949	0.763;0.881;0.763	T	0.00039	-1.2240	10	0.51188	T	0.08	-9.0643	19.9142	0.97043	0.0:0.0:1.0:0.0	.	856;856;510	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	V	856;856;473	ENSP00000320485:G856V;ENSP00000387636:G856V;ENSP00000363267:G473V	ENSP00000320485:G856V	G	+	2	0	ARID1A	26962198	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.028000	0.76470	2.941000	0.99782	0.655000	0.94253	GGG		0.612	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27089611	G	T	27089611	3	4	60	1	0	0	0	0	1	0	0	0	913	1232	43	3	2597	3	ARID1A	1	27089611	Missense_Mutation	SNP	G	TCGA-10-0927-01A-02W-0419-10		27089611	222161010	1	3015											
USH2A	7399	hgsc.bcm.edu	37	1	216062067	216062067	+	Missense_Mutation	SNP	T	T	A	rs143523460		TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr1:216062067T>A	ENST00000307340.3	-	41	8310	c.7924A>T	c.(7924-7926)Ata>Tta	p.I2642L	USH2A_ENST00000366943.2_Missense_Mutation_p.I2642L|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2642	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.I2642L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCCAAGATATAATCACAGAT	0.498										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											80	87	84					1																	216062067		2203	4300	6503	214128690	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7924A>T	1.37:g.216062067T>A	ENSP00000305941:p.Ile2642Leu		214128690	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306578	0.23736	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.38401	1.14;1.14	5.58	-4.48	0.03515	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.299519	0.22699	N	0.056714	T	0.15825	0.0381	L	0.41824	1.3	0.20196	N	0.999928	B	0.14805	0.011	B	0.14023	0.01	T	0.40776	-0.9545	10	0.02654	T	1	.	2.1942	0.03906	0.1068:0.188:0.3318:0.3734	.	2642	O75445	USH2A_HUMAN	L	2642	ENSP00000305941:I2642L;ENSP00000355910:I2642L	ENSP00000305941:I2642L	I	-	1	0	USH2A	214128690	0.020000	0.18652	0.073000	0.20177	0.951000	0.60555	0.182000	0.16900	-0.888000	0.03956	-0.290000	0.09829	ATA		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216062067	T	A	216062067	3	1	60	1	0	0	0	0	1	0	0	0	17036	1406	49	5	7812	5	USH2A	1	216062067	Missense_Mutation	SNP	T	TCGA-10-0927-01A-02W-0419-10	188972456	216062067	33188554	2	3016											
XIRP2	129446	hgsc.bcm.edu	37	2	167992543	167992543	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr2:167992543C>A	ENST00000409728.1	+	3	622	c.533C>A	c.(532-534)cCt>cAt	p.P178H	XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000420519.1_Missense_Mutation_p.P178H|XIRP2_ENST00000295237.9_Missense_Mutation_p.P178H|XIRP2_ENST00000409043.1_Missense_Mutation_p.P178H|XIRP2_ENST00000409195.1_Missense_Mutation_p.P178H|XIRP2_ENST00000409756.2_Missense_Mutation_p.P178H	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.P178H(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGATGTCACCTGAAAGTGGT	0.408																																																2	Substitution - Missense(2)	ovary(2)	2											87	87	87					2																	167992543		1896	4118	6014	167700789	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.533C>A	2.37:g.167992543C>A	ENSP00000386619:p.Pro178His		167700789	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674051	0.67928	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.80123	-1.22;-1.34;4.13;-1.22;-1.34;4.13	5.51	5.51	0.81932	.	0.732373	0.11232	U	0.585502	T	0.82148	0.4974	N	0.14661	0.345	0.28718	N	0.903185	D;D;D	0.71674	0.998;0.998;0.998	D;D;P	0.63113	0.911;0.911;0.847	T	0.78237	-0.2282	10	0.62326	D	0.03	-0.0586	17.6029	0.88030	0.0:1.0:0.0:0.0	.	178;178;3	A4UGR9-4;A4UGR9-6;A4UGR9-3	.;.;.	H	178	ENSP00000386454:P178H;ENSP00000386619:P178H;ENSP00000386840:P178H;ENSP00000386724:P178H;ENSP00000415541:P178H;ENSP00000295237:P178H	ENSP00000295237:P178H	P	+	2	0	XIRP2	167700789	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.911000	0.63328	2.597000	0.87782	0.591000	0.81541	CCT		0.408	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		A	167992543	C	A	167992543	3	1	60	1	0	0	0	0	1	0	0	0	17430	681	24	3	539	3	XIRP2	2	167992543	Missense_Mutation	SNP	C	TCGA-10-0927-01A-02W-0419-10		167992543	75206830	3	3017											
FASTKD2	22868	hgsc.bcm.edu	37	2	207652688	207652688	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr2:207652688A>G	ENST00000236980.6	+	9	1970	c.1622A>G	c.(1621-1623)cAt>cGt	p.H541R	FASTKD2_ENST00000402774.3_Missense_Mutation_p.H541R|FASTKD2_ENST00000403094.3_Missense_Mutation_p.H541R	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	541					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.H541R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TACAAGCTGCATACTTTGGAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											75	75	75					2																	207652688		2203	4300	6503	207360933	SO:0001583	missense	22868			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1622A>G	2.37:g.207652688A>G	ENSP00000236980:p.His541Arg		207360933	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	a	9.783	1.175777	0.21704	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.43294	0.95;0.95;0.95	5.67	-1.08	0.09936	FAST kinase-like protein, subdomain 2 (1);	0.392297	0.28895	N	0.013797	T	0.24431	0.0592	L	0.39020	1.185	0.20563	N	0.999888	B;B	0.22746	0.023;0.074	B;B	0.24006	0.021;0.05	T	0.16129	-1.0413	10	0.18710	T	0.47	-1.6201	4.7283	0.12952	0.5565:0.0:0.3104:0.1332	.	541;541	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	R	541	ENSP00000236980:H541R;ENSP00000385990:H541R;ENSP00000384929:H541R	ENSP00000236980:H541R	H	+	2	0	FASTKD2	207360933	0.079000	0.21365	0.024000	0.17045	0.014000	0.08584	0.554000	0.23407	-0.330000	0.08514	-0.255000	0.11280	CAT		0.363	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		G	207652688	A	G	207652688	3	3	60	1	0	0	0	0	1	0	0	0	5686	217	8	4	1652	4	FASTKD2	2	207652688	Missense_Mutation	SNP	A	TCGA-10-0927-01A-02W-0419-10	39660145	207652688	35546685	4	3018											
FAM124B	79843	hgsc.bcm.edu	37	2	225266248	225266248	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr2:225266248C>A	ENST00000409685.3	-	1	503	c.238G>T	c.(238-240)Gat>Tat	p.D80Y	FAM124B_ENST00000243806.2_Missense_Mutation_p.D80Y|FAM124B_ENST00000389874.3_Missense_Mutation_p.D80Y	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	80								p.D80Y(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AATAGCCTATCCTCTCCCGGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											60	57	58					2																	225266248		2203	4300	6503	224974492	SO:0001583	missense	79843			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.238G>T	2.37:g.225266248C>A	ENSP00000386895:p.Asp80Tyr		224974492	A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437143	0.43224	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.46451	0.87;0.87;0.87	5.69	2.86	0.33363	.	0.196143	0.52532	D	0.000064	T	0.43389	0.1245	L	0.29908	0.895	0.38865	D	0.956566	D;B	0.54964	0.969;0.432	P;B	0.50970	0.655;0.116	T	0.50642	-0.8804	10	0.87932	D	0	-13.044	16.8892	0.86082	0.0:0.6386:0.3614:0.0	.	80;80	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	Y	80	ENSP00000374524:D80Y;ENSP00000386895:D80Y;ENSP00000243806:D80Y	ENSP00000243806:D80Y	D	-	1	0	FAM124B	224974492	1.000000	0.71417	0.048000	0.18961	0.002000	0.02628	3.099000	0.50267	0.317000	0.23160	-0.818000	0.03119	GAT		0.567	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		A	225266248	C	A	225266248	3	1	60	1	0	0	0	0	1	0	0	0	5426	855	30	3	1228	3	FAM124B	2	225266248	Missense_Mutation	SNP	C	TCGA-10-0927-01A-02W-0419-10	17613560	225266248	17933125	5	3019											
BRPF1	7862	hgsc.bcm.edu	37	3	9781506	9781506	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr3:9781506G>C	ENST00000457855.1	+	2	1434	c.1423G>C	c.(1423-1425)Ggt>Cgt	p.G475R	BRPF1_ENST00000424362.1_Missense_Mutation_p.G475R|BRPF1_ENST00000302054.3_Missense_Mutation_p.G475R|BRPF1_ENST00000383829.2_Missense_Mutation_p.G475R|BRPF1_ENST00000433861.2_Missense_Mutation_p.G475R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	475					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G475R(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ggaggatgaggGTAAGGGCTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	3											62	60	61					3																	9781506		2203	4299	6502	9756506	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1423G>C	3.37:g.9781506G>C	ENSP00000410210:p.Gly475Arg		9756506	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763475	0.69763	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.18502	2.22;2.21;3.61;2.21;2.21	6.04	6.04	0.98038	.	0.111328	0.64402	D	0.000013	T	0.19327	0.0464	L	0.48642	1.525	0.80722	D	1	B;B;B;B	0.34103	0.13;0.008;0.05;0.437	B;B;B;B	0.31495	0.039;0.012;0.022;0.131	T	0.01762	-1.1279	10	0.27082	T	0.32	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	475;475;475;475	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	R	475	ENSP00000402485:G475R;ENSP00000398863:G475R;ENSP00000373340:G475R;ENSP00000306297:G475R;ENSP00000410210:G475R	ENSP00000306297:G475R	G	+	1	0	BRPF1	9756506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.166000	0.77553	2.873000	0.98535	0.561000	0.74099	GGT		0.592	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		C	9781506	G	C	9781506	3	2	60	1	0	0	0	0	1	0	0	0	1520	1232	43	3	1429	3	BRPF1	3	9781506	Missense_Mutation	SNP	G	TCGA-10-0927-01A-02W-0419-10		9781506	188240924	6	3020											
TTC29	83894	hgsc.bcm.edu	37	4	147724801	147724801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr4:147724801delC	ENST00000325106.4	-	11	1364	c.1138delG	c.(1138-1140)gctfs	p.A380fs	TTC29_ENST00000506019.1_5'UTR|TTC29_ENST00000398886.4_Frame_Shift_Del_p.A406fs|TTC29_ENST00000513335.1_Frame_Shift_Del_p.A406fs	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	380								p.A380fs*6(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GTGTCAAAAGCTTGCTGAAAG	0.353																																																1	Deletion - Frameshift(1)	ovary(1)	4											58	56	57					4																	147724801		1879	4111	5990	147944251	SO:0001589	frameshift_variant	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1138delG	4.37:g.147724801delC	ENSP00000316740:p.Ala380fs		147944251	A4GU95|Q9BXB6	Frame_Shift_Del	DEL	ENST00000325106.4	37	CCDS47141.1																																																																																				0.353	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		-	147724801	C	-	147724801	7	5	60	1	0	1	0	1	0	0	0	0	16696	797	28	0	301	0	TTC29	4	147724801	Frame_Shift_Del	DEL	C	TCGA-10-0927-01A-02W-0419-10		147724801	43429475	7	3021											
TIMD4	91937	hgsc.bcm.edu	37	5	156353323	156353323	+	Splice_Site	SNP	G	G	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr5:156353323G>T	ENST00000274532.2	-	6	901	c.845C>A	c.(844-846)gCa>gAa	p.A282E	TIMD4_ENST00000406964.1_5'UTR|TIMD4_ENST00000407087.3_Splice_Site_p.A254E	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	282						integral component of membrane (GO:0016021)		p.A282E(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTATCAGATGCTGGGAAGGA	0.363																																																1	Substitution - Missense(1)	ovary(1)	5											157	143	148					5																	156353323		2203	4300	6503	156285901	SO:0001630	splice_region_variant	91937			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.845-1C>A	5.37:g.156353323G>T			156285901	B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	g	0.482	-0.879479	0.02530	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.18502	2.21;2.24	4.3	-5.53	0.02552	.	2.124380	0.02595	N	0.100386	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B;B	0.21452	0.056;0.056	B;B	0.15484	0.013;0.008	T	0.23691	-1.0181	10	0.06625	T	0.88	.	0.6551	0.00833	0.2025:0.2536:0.1594:0.3844	.	254;282	B5MCL9;Q96H15	.;TIMD4_HUMAN	E	282;254	ENSP00000274532:A282E;ENSP00000385973:A254E	ENSP00000274532:A282E	A	-	2	0	TIMD4	156285901	0.000000	0.05858	0.005000	0.12908	0.156000	0.22039	-1.603000	0.02077	-0.810000	0.04375	-0.833000	0.03075	GCA		0.363	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379	Missense_Mutation	T	156353323	G	T	156353323	5	4	60	1	0	0	0	0	0	0	1	0	15903	1333	46	3	307	3	TIMD4	5	156353323	Splice_Site	SNP	G	TCGA-10-0927-01A-02W-0419-10		156353323	24561937	8	3022											
RREB1	6239	hgsc.bcm.edu	37	6	7226816	7226816	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr6:7226816C>A	ENST00000349384.6	+	9	1138	c.824C>A	c.(823-825)cCt>cAt	p.P275H	RREB1_ENST00000379933.3_Missense_Mutation_p.P275H|RREB1_ENST00000379938.2_Missense_Mutation_p.P275H|RREB1_ENST00000334984.6_Missense_Mutation_p.P275H	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	275					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P275H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGAACAACCCTTCAATTCCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											212	186	195					6																	7226816		2203	4300	6503	7171815	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.824C>A	6.37:g.7226816C>A	ENSP00000305560:p.Pro275His		7171815	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806364	0.90623	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.12774	2.83;2.75;2.83;2.65;2.83	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000016	T	0.11110	0.0271	N	0.13043	0.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.995;1.0	T	0.19516	-1.0303	10	0.09084	T	0.74	-17.4617	18.2888	0.90122	0.0:1.0:0.0:0.0	.	275;275;275	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	H	275	ENSP00000369265:P275H;ENSP00000369270:P275H;ENSP00000305560:P275H;ENSP00000335574:P275H;ENSP00000419511:P275H	ENSP00000335574:P275H	P	+	2	0	RREB1	7171815	1.000000	0.71417	0.975000	0.42487	0.967000	0.64934	5.350000	0.66016	2.311000	0.77944	0.655000	0.94253	CCT		0.502	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			A	7226816	C	A	7226816	3	1	60	1	0	0	0	0	1	0	0	0	13682	681	24	3	846	3	RREB1	6	7226816	Missense_Mutation	SNP	C	TCGA-10-0927-01A-02W-0419-10		7226816	163888251	9	3023											
PGBD1	84547	hgsc.bcm.edu	37	6	28269965	28269965	+	Silent	SNP	C	C	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr6:28269965C>T	ENST00000405948.2	+	7	2754	c.2334C>T	c.(2332-2334)caC>caT	p.H778H	PGBD1_ENST00000259883.3_Silent_p.H778H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	778						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H778H(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGCAACTACACAGAGCCTGTA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	6											83	80	81					6																	28269965		2203	4300	6503	28377944	SO:0001819	synonymous_variant	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2334C>T	6.37:g.28269965C>T			28377944	Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	CCDS4648.1																																																																																				0.418	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			T	28269965	C	T	28269965	2	4	60	1	0	0	0	0	0	0	0	1	11780	477	17	2		2	PGBD1	6	28269965	Silent	SNP	C	TCGA-10-0927-01A-02W-0419-10	21043149	28269965	142845102	10	3024											
GRM1	2911	hgsc.bcm.edu	37	6	146350692	146350692	+	Silent	SNP	T	T	C			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr6:146350692T>C	ENST00000282753.1	+	1	274	c.39T>C	c.(37-39)ttT>ttC	p.F13F	GRM1_ENST00000507907.1_Silent_p.F13F|GRM1_ENST00000392299.2_Silent_p.F13F|GRM1_ENST00000492807.2_Silent_p.F13F|GRM1_ENST00000361719.2_Silent_p.F13F|GRM1_ENST00000355289.4_Silent_p.F13F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	13					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.F13F(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGCGATCTTTTTGGAGGTGT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	6											109	127	121					6																	146350692		2202	4300	6502	146392385	SO:0001819	synonymous_variant	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.39T>C	6.37:g.146350692T>C			146392385	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																				0.607	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		C	146350692	T	C	146350692	2	2	60	1	0	0	0	0	0	0	0	1	6796	1838	64	4		4	GRM1	6	146350692	Silent	SNP	T	TCGA-10-0927-01A-02W-0419-10	118080727	146350692	24764375	11	3025											
GTF2IRD1	9569	hgsc.bcm.edu	37	7	73944105	73944105	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr7:73944105C>T	ENST00000265755.3	+	9	1525	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R410W|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R378W|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R378W	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	378				R -> Q (in Ref. 5; AAF21796). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R378W(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGTGCCCTACCGGAAGATTGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	7											69	59	62					7																	73944105		2203	4300	6503	73582041	SO:0001583	missense	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1132C>T	7.37:g.73944105C>T	ENSP00000265755:p.Arg378Trp		73582041	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	c	19.69	3.873889	0.72180	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.46	-2.05	0.07321	.	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	N	0.19112	0.55	0.52501	D	0.999952	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.993;0.957;0.996;0.974	T	0.52245	-0.8601	10	0.87932	D	0	-25.9307	17.2233	0.86963	0.259:0.7409:0.0:0.0	.	410;378;378;378	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	W	378;410;378;378	ENSP00000265755:R378W;ENSP00000397566:R410W;ENSP00000408477:R378W;ENSP00000418383:R378W	ENSP00000265755:R378W	R	+	1	2	GTF2IRD1	73582041	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	2.453000	0.44970	-0.142000	0.11354	-0.535000	0.04281	CGG		0.607	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		T	73944105	C	T	73944105	3	4	60	1	0	0	0	0	1	0	0	0	6868	643	23	1	1162	1	GTF2IRD1	7	73944105	Missense_Mutation	SNP	C	TCGA-10-0927-01A-02W-0419-10		73944105	85194558	12	3026											
SAMD9L	219285	hgsc.bcm.edu	37	7	92765125	92765125	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr7:92765125C>T	ENST00000318238.4	-	5	1376	c.160G>A	c.(160-162)Gac>Aac	p.D54N	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D54N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D54N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	54	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.D54N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTACAAGGTCCTTCTCAGTT	0.398																																																1	Substitution - Missense(1)	ovary(1)	7											120	121	120					7																	92765125		2203	4300	6503	92603061	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.160G>A	7.37:g.92765125C>T	ENSP00000326247:p.Asp54Asn		92603061	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811711	0.70797	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472;ENST00000446959;ENST00000439952;ENST00000414791;ENST00000446033	T;T;T;D;D;D;D	0.87179	1.67;1.67;1.67;-2.22;-2.22;-2.22;-2.22	4.73	3.83	0.44106	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.56097	D	0.000038	D	0.89532	0.6742	L	0.43152	1.355	0.42380	D	0.992487	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.948	D	0.86489	0.1796	10	0.17832	T	0.49	-17.8106	14.4864	0.67619	0.0:0.8517:0.1483:0.0	.	54;54	Q8IVG5-2;Q8IVG5	.;SAM9L_HUMAN	N	54	ENSP00000326247:D54N;ENSP00000405760:D54N;ENSP00000408796:D54N;ENSP00000391699:D54N;ENSP00000391387:D54N;ENSP00000396137:D54N;ENSP00000410062:D54N	ENSP00000326247:D54N	D	-	1	0	SAMD9L	92603061	0.030000	0.19436	0.718000	0.30602	0.930000	0.56654	0.448000	0.21726	1.196000	0.43129	0.460000	0.39030	GAC		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		T	92765125	C	T	92765125	3	4	60	1	0	0	0	0	1	0	0	0	13830	855	30	2	4598	2	SAMD9L	7	92765125	Missense_Mutation	SNP	C	TCGA-10-0927-01A-02W-0419-10	18821020	92765125	66373538	13	3027											
WDR60	55112	hgsc.bcm.edu	37	7	158704350	158704350	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr7:158704350G>C	ENST00000407559.3	+	12	1728	c.1570G>C	c.(1570-1572)Ggg>Cgg	p.G524R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	524					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G524R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAGAAACTTTGGGAAAAAAAA	0.328																																																1	Substitution - Missense(1)	ovary(1)	7											93	90	91					7																	158704350		1818	4075	5893	158397111	SO:0001583	missense	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1570G>C	7.37:g.158704350G>C	ENSP00000384290:p.Gly524Arg		158397111	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388451	0.82902	.	.	ENSG00000126870	ENST00000407559	D	0.89196	-2.48	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.986	D	0.95339	0.8436	10	0.87932	D	0	-32.876	15.8944	0.79323	0.0:0.0:1.0:0.0	.	7;524	A4D230;Q8WVS4	.;WDR60_HUMAN	R	524	ENSP00000384290:G524R	ENSP00000384290:G524R	G	+	1	0	WDR60	158397111	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	8.425000	0.90270	2.330000	0.79161	0.462000	0.41574	GGG		0.328	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		C	158704350	G	C	158704350	3	2	60	1	0	0	0	0	1	0	0	0	17311	1348	47	3	1616	3	WDR60	7	158704350	Missense_Mutation	SNP	G	TCGA-10-0927-01A-02W-0419-10	65939225	158704350	434313	14	3028											
UBR5	51366	hgsc.bcm.edu	37	8	103354864	103354864	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr8:103354864T>G	ENST00000520539.1	-	9	1541	c.935A>C	c.(934-936)gAa>gCa	p.E312A	UBR5_ENST00000220959.4_Missense_Mutation_p.E312A|UBR5_ENST00000521922.1_Missense_Mutation_p.E306A	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	312					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.E312A(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)			TAAAACGGATTCACGTTCACG	0.463																																					Ovarian(131;96 1741 5634 7352 27489)											1	Substitution - Missense(1)	ovary(1)	8											112	97	102					8																	103354864		2203	4300	6503	103424040	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.935A>C	8.37:g.103354864T>G	ENSP00000429084:p.Glu312Ala		103424040	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525326	0.85600	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.48836	0.8;0.8;0.8	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	L	0.52011	1.625	0.80722	D	1	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.64351	-0.6428	10	0.72032	D	0.01	.	15.2225	0.73324	0.0:0.0:0.0:1.0	.	306;312	E7EMW7;O95071	.;UBR5_HUMAN	A	312;312;306	ENSP00000429084:E312A;ENSP00000220959:E312A;ENSP00000427819:E306A	ENSP00000220959:E312A	E	-	2	0	UBR5	103424040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.993000	0.88291	2.050000	0.60909	0.528000	0.53228	GAA		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		G	103354864	T	G	103354864	3	3	60	1	0	0	0	0	1	0	0	0	16905	1783	62	5	7668	5	UBR5	8	103354864	Missense_Mutation	SNP	T	TCGA-10-0927-01A-02W-0419-10		103354864	43009158	15	3029											
NANS	54187	hgsc.bcm.edu	37	9	100845218	100845218	+	Frame_Shift_Del	DEL	G	G	-			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr9:100845218delG	ENST00000210444.5	+	6	1031	c.961delG	c.(961-963)ggcfs	p.G321fs	TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	321	AFP-like. {ECO:0000255|PROSITE- ProRule:PRU00021}.			G -> A (in Ref. 1; AAF75261). {ECO:0000305}.	lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)	p.G321fs*10(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TGAGCCCAAAGGCTATCCTCC	0.483																																																1	Deletion - Frameshift(1)	ovary(1)	9											100	91	94					9																	100845218		2203	4300	6503	99885039	SO:0001589	frameshift_variant	54187			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.961delG	9.37:g.100845218delG	ENSP00000210444:p.Gly321fs		99885039	B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Frame_Shift_Del	DEL	ENST00000210444.5	37	CCDS6733.1																																																																																				0.483	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		-	100845218	G	-	100845218	7	5	60	1	0	1	0	1	0	0	0	0	10155	1000	35	0	983	0	NANS	9	100845218	Frame_Shift_Del	DEL	G	TCGA-10-0927-01A-02W-0419-10		100845218	40368213	16	3030											
PRKCQ	5588	hgsc.bcm.edu	37	10	6533664	6533664	+	Silent	SNP	C	C	A			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr10:6533664C>A	ENST00000263125.5	-	8	870	c.771G>T	c.(769-771)cgG>cgT	p.R257R	PRKCQ_ENST00000397176.2_Silent_p.R257R|PRKCQ_ENST00000539722.1_Silent_p.R132R	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	257					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.R257R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TGAGTCCTTGCCGTGCCAGTC	0.547																																					Ovarian(50;572 1126 10530 25349 30594)											1	Substitution - coding silent(1)	ovary(1)	10											114	102	106					10																	6533664		2203	4300	6503	6573670	SO:0001819	synonymous_variant	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.771G>T	10.37:g.6533664C>A			6573670	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	CCDS7079.1																																																																																				0.547	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		A	6533664	C	A	6533664	2	1	60	1	0	0	0	0	0	0	0	1	12518	726	26	3		3	PRKCQ	10	6533664	Silent	SNP	C	TCGA-10-0927-01A-02W-0419-10		6533664	129001083	17	3031											
MADD	4607	hgsc.bcm.edu	37	11	47350684	47350684	+	IGR	SNP	C	C	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr11:47350684C>T	ENST00000545968.1	-	0	4217				MADD_ENST00000395344.3_Missense_Mutation_p.R1537W|MADD_ENST00000402799.1_Missense_Mutation_p.R1541W|MADD_ENST00000406482.1_3'UTR|MADD_ENST00000342922.4_Missense_Mutation_p.R1584W|MADD_ENST00000402192.2_Missense_Mutation_p.R1583W|MADD_ENST00000407859.3_Missense_Mutation_p.R1561W|MADD_ENST00000349238.3_Missense_Mutation_p.R1604W|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000311027.5_Missense_Mutation_p.R1643W	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R1643W(1)|p.R1643R(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AACCCCGCCCCGGCCTGTCTC	0.592																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	11											103	103	103					11																	47350684		2201	4298	6499	47307260	SO:0001628	intergenic_variant	8567			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896			11.37:g.47350684C>T			47307260	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811847	0.90707	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	T;T;T;T;T;T;T	0.08634	3.2;3.07;3.2;3.11;3.07;3.07;3.2	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.993;0.993;0.997;0.999;0.998;0.997;0.999	T	0.00128	-1.2017	10	0.87932	D	0	-17.409	20.0016	0.97412	0.0:1.0:0.0:0.0	.	1537;1537;1541;1604;1561;1643;1584	B5MEE5;A8K8S7;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;MADD_HUMAN;.	W	1584;1541;1604;1643;1561;1537;1583	ENSP00000343902:R1584W;ENSP00000385585:R1541W;ENSP00000304505:R1604W;ENSP00000310933:R1643W;ENSP00000384204:R1561W;ENSP00000378753:R1537W;ENSP00000384287:R1583W	ENSP00000310933:R1643W	R	+	1	2	MADD	47307260	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.003000	0.49505	2.731000	0.93534	0.555000	0.69702	CGG		0.592	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			T	47350684	C	T	47350684	1	4	60	0	1	0	0	0	0	0	0	0	9152	643	23	1		1	MADD	11	47350684	IGR	SNP	C	TCGA-10-0927-01A-02W-0419-10		47350684	87655832	18	3032											
MEN1	4221	hgsc.bcm.edu	37	11	64573219	64573219	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr11:64573219T>C	ENST00000337652.1	-	8	1591	c.1088A>G	c.(1087-1089)gAg>gGg	p.E363G	MEN1_ENST00000443283.1_Missense_Mutation_p.E363G|MEN1_ENST00000377316.2_Missense_Mutation_p.E358G|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000394374.2_Missense_Mutation_p.E363G|MEN1_ENST00000377321.1_Missense_Mutation_p.E323G|MEN1_ENST00000377326.3_Missense_Mutation_p.E358G|MEN1_ENST00000315422.4_Missense_Mutation_p.E358G|MEN1_ENST00000312049.6_Missense_Mutation_p.E358G|MEN1_ENST00000394376.1_Missense_Mutation_p.E363G|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.E363G|MAP4K2_ENST00000377350.3_5'Flank|MAP4K2_ENST00000468062.1_5'Flank	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	363	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.E358G(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTAGATCTCCTCGTCTTCCCG	0.617			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	1	Substitution - Missense(1)	ovary(1)	11											117	116	117					11																	64573219		2201	4297	6498	64329795	SO:0001583	missense	4221	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1088A>G	11.37:g.64573219T>C	ENSP00000337088:p.Glu363Gly		64329795	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657644	0.67586	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D;D	0.99667	-6.34;-6.34;-6.34;-6.34;-6.34;-6.34;-6.34;-6.34;-6.34;-6.34	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	L	0.52126	1.63	0.80722	D	1	B;D;B	0.69078	0.137;0.997;0.165	B;D;B	0.75484	0.178;0.986;0.272	D	0.98468	1.0599	10	0.49607	T	0.09	-23.2955	10.7627	0.46274	0.0:0.0:0.0:1.0	.	358;323;363	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	G	358;323;358;358;358;363;363;363;363;363	ENSP00000366533:E358G;ENSP00000366538:E323G;ENSP00000366543:E358G;ENSP00000308975:E358G;ENSP00000323747:E358G;ENSP00000337088:E363G;ENSP00000377901:E363G;ENSP00000377899:E363G;ENSP00000396940:E363G;ENSP00000366530:E363G	ENSP00000308975:E358G	E	-	2	0	MEN1	64329795	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.951000	0.75983	1.725000	0.51514	0.374000	0.22700	GAG		0.617	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			C	64573219	T	C	64573219	3	2	60	1	0	0	0	0	1	0	0	0	9472	1551	54	4	771	4	MEN1	11	64573219	Missense_Mutation	SNP	T	TCGA-10-0927-01A-02W-0419-10	17222535	64573219	70433297	19	3033											
ZBTB16	7704	hgsc.bcm.edu	37	11	113934217	113934217	+	Silent	SNP	C	C	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr11:113934217C>T	ENST00000335953.4	+	2	575	c.195C>T	c.(193-195)cgC>cgT	p.R65R	ZBTB16_ENST00000392996.2_Silent_p.R65R	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	65	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R65R(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCTTCCACCGCAATAGTCAAC	0.547																																																1	Substitution - coding silent(1)	ovary(1)	11											105	85	92					11																	113934217		2201	4296	6497	113439427	SO:0001819	synonymous_variant	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.195C>T	11.37:g.113934217C>T			113439427	Q8TAL4	Silent	SNP	ENST00000335953.4	37	CCDS8367.1																																																																																				0.547	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		T	113934217	C	T	113934217	2	4	60	1	0	0	0	0	0	0	0	1	17526	697	25	2		2	ZBTB16	11	113934217	Silent	SNP	C	TCGA-10-0927-01A-02W-0419-10	49360998	113934217	21072299	20	3034											
OLR1	4973	hgsc.bcm.edu	37	12	10319539	10319539	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr12:10319539G>A	ENST00000309539.3	-	3	256	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	OLR1_ENST00000544577.1_Missense_Mutation_p.L66F|OLR1_ENST00000543993.1_5'UTR|OLR1_ENST00000432556.2_Missense_Mutation_p.L66F|OLR1_ENST00000545927.1_Missense_Mutation_p.L66F	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	66	Neck.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)	p.L66F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TGTGTTAGGAGGTCAGACACC	0.433																																																1	Substitution - Missense(1)	ovary(1)	12											121	114	116					12																	10319539		2203	4300	6503	10210806	SO:0001583	missense	4973			D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"C-type lectin domain containing"	8133	protein-coding gene	gene with protein product		602601	"oxidised low density lipoprotein (lectin-like) receptor 1"			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.196C>T	12.37:g.10319539G>A	ENSP00000309124:p.Leu66Phe		10210806	A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Missense_Mutation	SNP	ENST00000309539.3	37	CCDS8618.1	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067353	0.20067	.	.	ENSG00000173391	ENST00000309539;ENST00000544577;ENST00000545927;ENST00000432556;ENST00000539518;ENST00000543414	T;T;T;T;T	0.42513	4.9;1.45;0.97;1.45;4.85	4.89	3.99	0.46301	.	0.356051	0.20649	N	0.088251	T	0.54208	0.1844	L	0.58101	1.795	0.09310	N	1	D;P	0.69078	0.997;0.952	D;P	0.66497	0.944;0.523	T	0.45205	-0.9277	10	0.19590	T	0.45	.	11.8357	0.52323	0.0:0.1777:0.8223:0.0	.	66;66	B4DI48;P78380	.;OLR1_HUMAN	F	66;66;66;66;13;13	ENSP00000309124:L66F;ENSP00000444457:L66F;ENSP00000439251:L66F;ENSP00000405116:L66F;ENSP00000442389:L13F	ENSP00000309124:L66F	L	-	1	0	OLR1	10210806	0.587000	0.26791	0.007000	0.13788	0.007000	0.05969	1.248000	0.32827	1.358000	0.45922	0.591000	0.81541	CTC		0.433	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543		A	10319539	G	A	10319539	3	1	60	1	0	0	0	0	1	0	0	0	10863	1000	35	2	641	2	OLR1	12	10319539	Missense_Mutation	SNP	G	TCGA-10-0927-01A-02W-0419-10		10319539	123532356	21	3035											
GLT8D2	83468	hgsc.bcm.edu	37	12	104397084	104397084	+	Splice_Site	SNP	T	T	G			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr12:104397084T>G	ENST00000360814.4	-	5	518	c.113A>C	c.(112-114)gAt>gCt	p.D38A	GLT8D2_ENST00000546436.1_Splice_Site_p.D38A|GLT8D2_ENST00000548660.1_Splice_Site_p.D38A	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	38						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.D38A(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGATTCATCATCTGGAAACAT	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											128	113	118					12																	104397084		2203	4300	6503	102921214	SO:0001630	splice_region_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.113-1A>C	12.37:g.104397084T>G			102921214	Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.644012	0.29246	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.29917	1.55;1.55;1.55	5.73	3.38	0.38709	.	0.225757	0.43919	D	0.000512	T	0.18964	0.0455	L	0.32530	0.975	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08411	-1.0723	10	0.31617	T	0.26	.	4.1186	0.10094	0.1844:0.1598:0.0:0.6558	.	38	Q9H1C3	GL8D2_HUMAN	A	38	ENSP00000354053:D38A;ENSP00000449750:D38A;ENSP00000447450:D38A	ENSP00000354053:D38A	D	-	2	0	GLT8D2	102921214	0.677000	0.27577	0.667000	0.29798	0.719000	0.41307	0.614000	0.24314	0.451000	0.26802	0.460000	0.39030	GAT		0.463	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	Missense_Mutation	G	104397084	T	G	104397084	5	3	60	1	0	0	0	0	0	0	1	0	6470	1449	50	5	964	5	GLT8D2	12	104397084	Splice_Site	SNP	T	TCGA-10-0927-01A-02W-0419-10	94077545	104397084	29454811	22	3036											
SQRDL	58472	hgsc.bcm.edu	37	15	45954156	45954156	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr15:45954156C>T	ENST00000260324.7	+	3	624	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.H80Y|SQRDL_ENST00000568606.1_Missense_Mutation_p.H80Y	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	80					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)	p.H80Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TTCTCAGAGACATTTCTACCA	0.443																																																1	Substitution - Missense(1)	ovary(1)	15											69	60	63					15																	45954156		2198	4297	6495	43741448	SO:0001583	missense	58472			AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.238C>T	15.37:g.45954156C>T	ENSP00000260324:p.His80Tyr		43741448	Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801805	0.90538	.	.	ENSG00000137767	ENST00000260324	T	0.39406	1.08	5.52	5.52	0.82312	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86084	0.1546	10	0.87932	D	0	.	18.0115	0.89225	0.0:1.0:0.0:0.0	.	80	Q9Y6N5	SQRD_HUMAN	Y	80	ENSP00000260324:H80Y	ENSP00000260324:H80Y	H	+	1	0	SQRDL	43741448	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.461000	0.80834	2.585000	0.87301	0.655000	0.94253	CAT		0.443	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			T	45954156	C	T	45954156	3	4	60	1	0	0	0	0	1	0	0	0	15131	478	17	2	244	2	SQRDL	15	45954156	Missense_Mutation	SNP	C	TCGA-10-0927-01A-02W-0419-10		45954156	56577236	23	3037											
ZNF155	7711	hgsc.bcm.edu	37	19	44501456	44501456	+	Missense_Mutation	SNP	C	C	A	rs142327702		TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr19:44501456C>A	ENST00000270014.2	+	5	1575	c.1447C>A	c.(1447-1449)Cca>Aca	p.P483T	ZNF155_ENST00000590615.1_Missense_Mutation_p.P483T|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.P494T	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	483					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.P483T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CCAGAAAAAACCATTCAAATG	0.453													C|||	1	0.000199681	0	0	5008	,	,		17003	0.001		0	False		,,,				2504	0				NSCLC(61;554 1277 20909 42067 42312)											1	Substitution - Missense(1)	ovary(1)	19						C	THR/PRO,THR/PRO	0,4406		0,0,2203	94	99	97		1447,1447	-0.8	0	19	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF155	NM_003445.2,NM_198089.1	38,38	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	483/539,483/539	44501456	1,13005	2203	4300	6503	49193296	SO:0001583	missense	7711			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1447C>A	19.37:g.44501456C>A	ENSP00000270014:p.Pro483Thr		49193296	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	CCDS12634.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.37	2.218054	0.39201	0.0	1.16E-4	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.07021	3.23;3.23	2.83	-0.751	0.11076	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17534	0.0421	M	0.65320	2	0.09310	N	1	D;D	0.64830	0.99;0.994	D;D	0.71870	0.918;0.975	T	0.16394	-1.0404	9	0.66056	D	0.02	.	1.5214	0.02516	0.1667:0.4434:0.164:0.2259	.	494;483	B4DM95;Q12901	.;ZN155_HUMAN	T	494;483	ENSP00000385163:P494T;ENSP00000270014:P483T	ENSP00000270014:P483T	P	+	1	0	ZNF155	49193296	0.660000	0.27420	0.006000	0.13384	0.199000	0.23934	2.278000	0.43426	0.057000	0.16193	-0.304000	0.09214	CCA		0.453	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		A	44501456	C	A	44501456	3	1	60	1	0	0	0	0	1	0	0	0	17736	507	18	3	1461	3	ZNF155	19	44501456	Missense_Mutation	SNP	C	TCGA-10-0927-01A-02W-0419-10		44501456	14627527	24	3038											
CHD6	84181	hgsc.bcm.edu	37	20	40112056	40112056	+	Silent	SNP	C	C	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr20:40112056C>T	ENST00000373233.3	-	16	2538	c.2361G>A	c.(2359-2361)ttG>ttA	p.L787L	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	787	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.L787L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTTTATCAATCAACACAAGCT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	20											111	103	106					20																	40112056		2203	4300	6503	39545470	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2361G>A	20.37:g.40112056C>T			39545470	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			T	40112056	C	T	40112056	2	4	60	1	0	0	0	0	0	0	0	1	3329	825	29	2		2	CHD6	20	40112056	Silent	SNP	C	TCGA-10-0927-01A-02W-0419-10		40112056	22913464	25	3039											
PPIL2	23759	hgsc.bcm.edu	37	22	22036752	22036752	+	Silent	SNP	C	C	T			TCGA-10-0927-01A-02W-0419-10	TCGA-10-0927-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	73250262-8a63-4f52-a9c1-380f600193ed	6054ebb8-a4bc-45b8-9f4b-88b0406618fd	g.chr22:22036752C>T	ENST00000335025.8	+	8	505	c.414C>T	c.(412-414)gcC>gcT	p.A138A	PPIL2_ENST00000456792.2_Silent_p.A117A|PPIL2_ENST00000406385.1_Silent_p.A138A|PPIL2_ENST00000398831.3_Silent_p.A138A|PPIL2_ENST00000412327.1_Silent_p.A138A|PPIL2_ENST00000492445.2_Silent_p.A138A					peptidylprolyl isomerase (cyclophilin)-like 2									p.A138A(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ATATCAAGGCCAAGAACTTCC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	22											126	100	109					22																	22036752		2203	4300	6503	20366752	SO:0001819	synonymous_variant	23759				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.414C>T	22.37:g.22036752C>T			20366752		Silent	SNP	ENST00000335025.8	37	CCDS13793.1																																																																																				0.602	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			T	22036752	C	T	22036752	2	4	60	1	0	0	0	0	0	0	0	1	12330	581	21	2		2	PPIL2	22	22036752	Silent	SNP	C	TCGA-10-0927-01A-02W-0419-10		22036752	29267814	26	3040											
HOOK1	51361	hgsc.bcm.edu	37	1	60324139	60324139	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr1:60324139G>A	ENST00000371208.3	+	13	1539	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	HOOK1_ENST00000395561.2_Missense_Mutation_p.E386K|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	428	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.E428K(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGAAACAAATGAAGAGCTTCG	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											90	94	93					1																	60324139		2203	4300	6503	60096727	SO:0001583	missense	51361			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1282G>A	1.37:g.60324139G>A	ENSP00000360252:p.Glu428Lys		60096727	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959720	0.92791	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.22336	1.96;1.96	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.52320	-0.8591	10	0.44086	T	0.13	.	15.3769	0.74615	0.0:0.0:1.0:0.0	.	428	Q9UJC3	HOOK1_HUMAN	K	428;386	ENSP00000360252:E428K;ENSP00000378928:E386K	ENSP00000360252:E428K	E	+	1	0	HOOK1	60096727	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.290000	0.89925	2.287000	0.76781	0.462000	0.41574	GAA		0.353	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		A	60324139	G	A	60324139	3	1	61	1	0	0	0	0	1	0	0	0	7282	1291	45	2	1332	2	HOOK1	1	60324139	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10		60324139	188926482	1	3041											
ADAMTS4	9507	hgsc.bcm.edu	37	1	161163824	161163824	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr1:161163824C>G	ENST00000367996.5	-	5	1877	c.1449G>C	c.(1447-1449)caG>caC	p.Q483H	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	483	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.Q483H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	AGTGTTTGGTCTGGCACATGG	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											50	55	53					1																	161163824		2203	4299	6502	159430448	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1449G>C	1.37:g.161163824C>G	ENSP00000356975:p.Gln483His		159430448	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832829	0.32421	.	.	ENSG00000158859	ENST00000367996	T	0.03580	3.88	5.29	3.29	0.37713	.	0.000000	0.64402	D	0.000011	T	0.01454	0.0047	L	0.41632	1.29	0.80722	D	1	B	0.22146	0.065	B	0.25614	0.062	T	0.44436	-0.9328	10	0.32370	T	0.25	.	7.9115	0.29793	0.0:0.7329:0.0:0.2671	.	483	O75173	ATS4_HUMAN	H	483	ENSP00000356975:Q483H	ENSP00000356975:Q483H	Q	-	3	2	ADAMTS4	159430448	0.896000	0.30565	1.000000	0.80357	0.996000	0.88848	0.045000	0.14013	1.472000	0.48140	0.561000	0.74099	CAG		0.662	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		G	161163824	C	G	161163824	3	3	61	1	0	0	0	0	1	0	0	0	268	912	32	3	1084	3	ADAMTS4	1	161163824	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10	100839685	161163824	88086797	2	3042											
DDX59	83479	hgsc.bcm.edu	37	1	200617689	200617689	+	Missense_Mutation	SNP	G	G	C	rs145880966		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr1:200617689G>C	ENST00000331314.6	-	7	1687	c.1474C>G	c.(1474-1476)Ctt>Gtt	p.L492V	DDX59_ENST00000447706.2_Missense_Mutation_p.L492V|DDX59_ENST00000367348.3_Missense_Mutation_p.L492V	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	492	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.L492V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCTCCTTCAAGTAATCCCTTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	1						G	VAL/LEU	0,4406		0,0,2203	116	114	115		1474	4.5	0.1	1	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	missense	DDX59	NM_001031725.4	32	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	benign	492/620	200617689	2,13004	2203	4300	6503	198884312	SO:0001583	missense	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1474C>G	1.37:g.200617689G>C	ENSP00000330460:p.Leu492Val		198884312	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151708|3.151708	0.57151|0.57151	0.0|0.0	2.33E-4|2.33E-4	ENSG00000118197|ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000367346;ENST00000331314;ENST00000433235|ENST00000452560;ENST00000429498	T;T;T;T;T|.	0.75154|.	-0.91;-0.91;-0.91;-0.91;-0.91|.	5.5|5.5	4.49|4.49	0.54785|0.54785	Helicase, C-terminal (3);|.	0.119854|.	0.64402|.	D|.	0.000019|.	T|T	0.57066|0.57066	0.2028|0.2028	L|L	0.43701|0.43701	1.375|1.375	0.58432|0.58432	D|D	0.999998|0.999998	P;P|.	0.45396|.	0.857;0.766|.	P;P|.	0.51324|.	0.666;0.666|.	T|T	0.52313|0.52313	-0.8592|-0.8592	10|5	0.44086|.	T|.	0.13|.	-21.7279|-21.7279	10.6506|10.6506	0.45647|0.45647	0.1607:0.0:0.8393:0.0|0.1607:0.0:0.8393:0.0	.|.	492;492|.	B7Z5N6;Q5T1V6|.	.;DDX59_HUMAN|.	V|S	492;130;492;78;492;135|28;69	ENSP00000394367:L492V;ENSP00000394304:L130V;ENSP00000356317:L492V;ENSP00000330460:L492V;ENSP00000409954:L135V|.	ENSP00000330460:L492V|.	L|T	-|-	1|2	0|0	DDX59|DDX59	198884312|198884312	1.000000|1.000000	0.71417|0.71417	0.057000|0.057000	0.19452|0.19452	0.182000|0.182000	0.23217|0.23217	5.271000|5.271000	0.65553|0.65553	2.577000|2.577000	0.86979|0.86979	0.643000|0.643000	0.83706|0.83706	CTT|ACT		0.358	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		C	200617689	G	C	200617689	3	2	61	1	0	0	0	0	1	0	0	0	4376	1029	36	3	393	3	DDX59	1	200617689	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10	39453865	200617689	48632932	3	3043											
DNAH7	56171	hgsc.bcm.edu	37	2	196737142	196737142	+	Silent	SNP	G	G	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr2:196737142G>T	ENST00000312428.6	-	40	6565	c.6465C>A	c.(6463-6465)ggC>ggA	p.G2155G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2155	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.G2155G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGTCATTGTGCCATTTACGA	0.323																																																1	Substitution - coding silent(1)	ovary(1)	2											168	150	156					2																	196737142		1828	4085	5913	196445387	SO:0001819	synonymous_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6465C>A	2.37:g.196737142G>T			196445387	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196737142	G	T	196737142	2	4	61	1	0	0	0	0	0	0	0	1	4606	1306	46	3		3	DNAH7	2	196737142	Silent	SNP	G	TCGA-10-0928-01A-02W-0419-10		196737142	46462231	4	3044											
HDAC4	9759	hgsc.bcm.edu	37	2	240024584	240024584	+	Silent	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr2:240024584G>A	ENST00000345617.3	-	16	2897	c.2106C>T	c.(2104-2106)cgC>cgT	p.R702R	HDAC4_ENST00000543185.1_Silent_p.R286R|HDAC4_ENST00000541256.1_Silent_p.R676R	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	702	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R702R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTTGCGTCCGCGGATGCACT	0.587																																																1	Substitution - coding silent(1)	ovary(1)	2											116	93	101					2																	240024584		2203	4300	6503	239689521	SO:0001819	synonymous_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2106C>T	2.37:g.240024584G>A			239689521	Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																				0.587	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		A	240024584	G	A	240024584	2	1	61	1	0	0	0	0	0	0	0	1	7009	1074	38	1		1	HDAC4	2	240024584	Silent	SNP	G	TCGA-10-0928-01A-02W-0419-10	43287442	240024584	3174789	5	3045											
SCN5A	6331	hgsc.bcm.edu	37	3	38651337	38651337	+	Silent	SNP	G	G	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:38651337G>T	ENST00000333535.4	-	7	971	c.822C>A	c.(820-822)ggC>ggA	p.G274G	SCN5A_ENST00000451551.2_Silent_p.G274G|SCN5A_ENST00000413689.1_Silent_p.G274G|SCN5A_ENST00000423572.2_Silent_p.G274G|SCN5A_ENST00000455624.2_Silent_p.G274G|SCN5A_ENST00000449557.2_Silent_p.G274G|SCN5A_ENST00000414099.2_Silent_p.G274G|SCN5A_ENST00000443581.1_Silent_p.G274G|SCN5A_ENST00000425664.1_Silent_p.G274G|SCN5A_ENST00000450102.2_Silent_p.G274G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	274					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.G274G(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTTAGGTTGCCCATGAAGA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	3											79	85	83					3																	38651337		2187	4289	6476	38626341	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.822C>A	3.37:g.38651337G>T			38626341	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		T	38651337	G	T	38651337	2	4	61	1	0	0	0	0	0	0	0	1	13925	1306	46	3		3	SCN5A	3	38651337	Silent	SNP	G	TCGA-10-0928-01A-02W-0419-10		38651337	159371093	6	3046	6	2									
SCN5A	6331	hgsc.bcm.edu	37	3	38651343	38651343	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:38651343G>T	ENST00000333535.4	-	7	965	c.816C>A	c.(814-816)ttC>ttA	p.F272L	SCN5A_ENST00000451551.2_Missense_Mutation_p.F272L|SCN5A_ENST00000413689.1_Missense_Mutation_p.F272L|SCN5A_ENST00000423572.2_Missense_Mutation_p.F272L|SCN5A_ENST00000455624.2_Missense_Mutation_p.F272L|SCN5A_ENST00000449557.2_Missense_Mutation_p.F272L|SCN5A_ENST00000414099.2_Missense_Mutation_p.F272L|SCN5A_ENST00000443581.1_Missense_Mutation_p.F272L|SCN5A_ENST00000425664.1_Missense_Mutation_p.F272L|SCN5A_ENST00000450102.2_Missense_Mutation_p.F272L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	272					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.F272L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTTGCCCATGAAGAGCTGCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											80	86	84					3																	38651343		2181	4288	6469	38626347	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.816C>A	3.37:g.38651343G>T	ENSP00000328968:p.Phe272Leu		38626347	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250643	0.80135	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000399254	D;D;D;D;D;D;D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41	5.34	3.56	0.40772	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.96015	3.755	0.44985	D	0.998009	D;D;D;D;D;D;D	0.76494	0.999;0.99;0.992;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D	0.80764	0.992;0.979;0.987;0.992;0.992;0.994;0.987	D	0.98826	1.0749	10	0.87932	D	0	.	11.0722	0.48010	0.2068:0.0:0.7932:0.0	.	272;272;272;272;272;272;272	E9PEF3;Q14524-3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	L	272;272;272;272;272;272;272;272;272;272;82	ENSP00000398962:F272L;ENSP00000398266:F272L;ENSP00000410257:F272L;ENSP00000388797:F272L;ENSP00000397915:F272L;ENSP00000416634:F272L;ENSP00000328968:F272L;ENSP00000399524:F272L;ENSP00000403355:F272L;ENSP00000413996:F272L	ENSP00000328968:F272L	F	-	3	2	SCN5A	38626347	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.747000	0.38298	0.836000	0.34901	-0.140000	0.14226	TTC		0.607	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		T	38651343	G	T	38651343	3	4	61	1	0	0	0	0	1	0	0	0	13925	1281	45	3	5322	3	SCN5A	3	38651343	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10	6	38651343	159371087	7	3047	6	2									
GNAT1	2779	hgsc.bcm.edu	37	3	50232277	50232277	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:50232277G>C	ENST00000433068.1	+	8	998	c.942G>C	c.(940-942)gaG>gaC	p.E314D	GNAT1_ENST00000232461.3_Missense_Mutation_p.E314D	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	314					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.E314D(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACGTGAAGGAGATCTATTCCC	0.567											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	3											101	81	88					3																	50232277		2203	4300	6503	50207281	SO:0001583	missense	2779				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.942G>C	3.37:g.50232277G>C	ENSP00000387555:p.Glu314Asp	968	50207281	Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407333	0.83230	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.88896	-2.44;-2.44	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.66560	2.04	0.53005	D	0.999962	D	0.63046	0.992	D	0.75020	0.985	D	0.92708	0.6180	10	0.59425	D	0.04	.	11.1405	0.48400	0.0912:0.0:0.9088:0.0	.	314	P11488	GNAT1_HUMAN	D	314	ENSP00000232461:E314D;ENSP00000387555:E314D	ENSP00000232461:E314D	E	+	3	2	GNAT1	50207281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.882000	0.28186	2.243000	0.73865	0.491000	0.48974	GAG		0.567	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		C	50232277	G	C	50232277	3	2	61	1	0	0	0	0	1	0	0	0	6511	933	33	3	972	3	GNAT1	3	50232277	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10	11580934	50232277	147790153	8	3048											
CCDC80	151887	hgsc.bcm.edu	37	3	112356988	112356988	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:112356988C>T	ENST00000206423.3	-	2	2718	c.1765G>A	c.(1765-1767)Ggt>Agt	p.G589S	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.G589S	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	589	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.G589S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGTTTTACCTCCTtttttc	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											244	224	231					3																	112356988		2203	4300	6503	113839678	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1765G>A	3.37:g.112356988C>T	ENSP00000206423:p.Gly589Ser		113839678	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864207	0.17250	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.40476	1.03;1.03	5.26	3.34	0.38264	.	0.376195	0.30464	N	0.009564	T	0.19644	0.0472	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18461	0.027;0.0;0.028	B;B;B	0.15052	0.012;0.001;0.008	T	0.20739	-1.0266	10	0.07482	T	0.82	-7.7153	7.1914	0.25828	0.0:0.7235:0.0:0.2765	.	600;589;589	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	S	589;589;217	ENSP00000206423:G589S;ENSP00000411814:G589S	ENSP00000206423:G589S	G	-	1	0	CCDC80	113839678	0.468000	0.25839	0.015000	0.15790	0.767000	0.43475	2.650000	0.46665	1.460000	0.47911	-0.263000	0.10527	GGT		0.443	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		T	112356988	C	T	112356988	3	4	61	1	0	0	0	0	1	0	0	0	2854	681	24	2	1115	2	CCDC80	3	112356988	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10	62124711	112356988	85665442	9	3049											
CD200R1	131450	hgsc.bcm.edu	37	3	112647781	112647781	+	Silent	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:112647781G>A	ENST00000471858.1	-	4	814	c.582C>T	c.(580-582)agC>agT	p.S194S	CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000308611.3_Silent_p.S217S|CD200R1_ENST00000295863.4_Silent_p.S172S	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	194	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S217S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CTGTGCCATTGCTCCAGTATT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	3											135	108	117					3																	112647781		2203	4300	6503	114130471	SO:0001819	synonymous_variant	131450			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.582C>T	3.37:g.112647781G>A			114130471	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Silent	SNP	ENST00000471858.1	37	CCDS2970.1																																																																																				0.522	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		A	112647781	G	A	112647781	2	1	61	1	0	0	0	0	0	0	0	1	2981	1310	46	2		2	CD200R1	3	112647781	Silent	SNP	G	TCGA-10-0928-01A-02W-0419-10	290793	112647781	85374649	10	3050											
HPS3	84343	hgsc.bcm.edu	37	3	148885739	148885739	+	Silent	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:148885739G>A	ENST00000296051.2	+	16	2996	c.2856G>A	c.(2854-2856)gaG>gaA	p.E952E	HPS3_ENST00000460120.1_Silent_p.E787E	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	952					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.E952E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGGTGGAGAGAAGTATCAAC	0.299									Hermansky-Pudlak syndrome																																							1	Substitution - coding silent(1)	ovary(1)	3											98	104	102					3																	148885739		2203	4298	6501	150368429	SO:0001819	synonymous_variant	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2856G>A	3.37:g.148885739G>A			150368429	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	CCDS3140.1																																																																																				0.299	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		A	148885739	G	A	148885739	2	1	61	1	0	0	0	0	0	0	0	1	7340	933	33	2		2	HPS3	3	148885739	Silent	SNP	G	TCGA-10-0928-01A-02W-0419-10	36237958	148885739	49136691	11	3051											
ZFYVE28	57732	hgsc.bcm.edu	37	4	2275014	2275014	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr4:2275014C>A	ENST00000290974.2	-	10	2548	c.2209G>T	c.(2209-2211)Gtg>Ttg	p.V737L	ZFYVE28_ENST00000508471.1_Missense_Mutation_p.V42L|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.V707L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.V667L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	737					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.V737L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGGTCAGCCACACCTGAGGAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	4											119	122	121					4																	2275014		2203	4300	6503	2244812	SO:0001583	missense	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2209G>T	4.37:g.2275014C>A	ENSP00000290974:p.Val737Leu		2244812	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237473	0.58886	.	.	ENSG00000159733	ENST00000508471;ENST00000290974;ENST00000511071;ENST00000515312	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.17	4.17	0.49024	.	0.138437	0.48286	N	0.000192	T	0.63034	0.2477	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.83275	0.996;0.978	T	0.65763	-0.6089	10	0.46703	T	0.11	.	13.9863	0.64337	0.0:1.0:0.0:0.0	.	707;737	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	L	42;737;707;667	ENSP00000427654:V42L;ENSP00000290974:V737L;ENSP00000425706:V707L;ENSP00000426299:V667L	ENSP00000290974:V737L	V	-	1	0	ZFYVE28	2244812	1.000000	0.71417	0.996000	0.52242	0.774000	0.43823	5.377000	0.66184	1.884000	0.54569	0.555000	0.69702	GTG		0.557	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		A	2275014	C	A	2275014	3	1	61	1	0	0	0	0	1	0	0	0	17670	478	17	3	470	3	ZFYVE28	4	2275014	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10		2275014	188879262	12	3052											
PPAP2A	8611	hgsc.bcm.edu	37	5	54721866	54721866	+	Splice_Site	SNP	A	A	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr5:54721866A>C	ENST00000307259.8	-	5	971	c.551T>G	c.(550-552)cTt>cGt	p.L184R	PPAP2A_ENST00000264775.5_Splice_Site_p.L185R	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	184					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.L185R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TTGAAGATAAAGCTAAAAGAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	5											51	51	51					5																	54721866		2203	4300	6503	54757623	SO:0001630	splice_region_variant	8611			AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.550-1T>G	5.37:g.54721866A>C			54757623	B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496034	0.85069	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.78126	-1.15;-1.15	5.65	5.65	0.86999	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.332353	0.32386	N	0.006175	D	0.92909	0.7744	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.95405	0.8493	10	0.66056	D	0.02	-6.0735	16.1611	0.81712	1.0:0.0:0.0:0.0	.	184;185	O14494;G3XA95	LPP1_HUMAN;.	R	185;184	ENSP00000264775:L185R;ENSP00000302229:L184R	ENSP00000264775:L185R	L	-	2	0	PPAP2A	54757623	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.910000	0.92685	2.272000	0.75746	0.460000	0.39030	CTT		0.358	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1		Missense_Mutation	C	54721866	A	C	54721866	5	2	61	1	0	0	0	0	0	0	1	0	12290	86	3	5	311	5	PPAP2A	5	54721866	Splice_Site	SNP	A	TCGA-10-0928-01A-02W-0419-10		54721866	126193394	13	3053											
ARRDC3	57561	hgsc.bcm.edu	37	5	90671339	90671339	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr5:90671339C>G	ENST00000265138.3	-	4	868	c.602G>C	c.(601-603)gGc>gCc	p.G201A	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	201					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.G201A(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TGGGGTATAGCCCTTCCTTTC	0.368																																																1	Substitution - Missense(1)	ovary(1)	5											108	114	112					5																	90671339		2203	4300	6503	90707095	SO:0001583	missense	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.602G>C	5.37:g.90671339C>G	ENSP00000265138:p.Gly201Ala		90707095	A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128880	0.94473	.	.	ENSG00000113369	ENST00000265138	T	0.16743	2.32	5.51	5.51	0.81932	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.28554	-1.0040	10	0.48119	T	0.1	-28.0432	19.4092	0.94662	0.0:1.0:0.0:0.0	.	201	Q96B67	ARRD3_HUMAN	A	201	ENSP00000265138:G201A	ENSP00000265138:G201A	G	-	2	0	ARRDC3	90707095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.484000	0.81180	2.591000	0.87537	0.591000	0.81541	GGC		0.368	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		G	90671339	C	G	90671339	3	3	61	1	0	0	0	0	1	0	0	0	984	739	26	3	662	3	ARRDC3	5	90671339	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10	35949473	90671339	90243921	14	3054											
RAPGEF6	51735	hgsc.bcm.edu	37	5	130766743	130766743	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr5:130766743T>G	ENST00000509018.1	-	26	4479	c.4274A>C	c.(4273-4275)aAa>aCa	p.K1425T	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.K1438T|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.K1433T|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.K1475T|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.K1433T	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1425	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.K1425T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TAGGCTTCCTTTACACTGCCC	0.468																																					Melanoma(168;435 1955 13113 13877 23213)											1	Substitution - Missense(1)	ovary(1)	5											121	123	122					5																	130766743		2203	4300	6503	130794642	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4274A>C	5.37:g.130766743T>G	ENSP00000421684:p.Lys1425Thr		130794642	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	9.461	1.093049	0.20471	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.26067	1.86;1.76;1.76;1.86;1.95	5.11	1.42	0.22433	.	0.286010	0.40144	N	0.001169	T	0.22551	0.0544	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.28552	0.075;0.215;0.032;0.008;0.215	B;B;B;B;B	0.32465	0.055;0.146;0.044;0.046;0.146	T	0.04294	-1.0962	10	0.36615	T	0.2	.	8.7859	0.34821	0.0:0.2192:0.0:0.7808	.	1433;1433;1475;1438;1425	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	T	1425;1438;1433;1433;1438;1475	ENSP00000421684:K1425T;ENSP00000309298:K1438T;ENSP00000426081:K1433T;ENSP00000296859:K1433T;ENSP00000426948:K1475T	ENSP00000426948:K1475T	K	-	2	0	RAPGEF6;FNIP1	130794642	1.000000	0.71417	0.968000	0.41197	0.148000	0.21650	2.470000	0.45119	0.371000	0.24564	-0.290000	0.09829	AAA		0.468	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		G	130766743	T	G	130766743	3	3	61	1	0	0	0	0	1	0	0	0	13051	1841	64	5	543	5	RAPGEF6	5	130766743	Missense_Mutation	SNP	T	TCGA-10-0928-01A-02W-0419-10	40095404	130766743	50148517	15	3055											
HSPA1L	3305	hgsc.bcm.edu	37	6	31778204	31778204	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr6:31778204C>G	ENST00000375654.4	-	2	1735	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E516Q	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	516					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.E516Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGCTCAATCTCCTCCTTGCTC	0.478																																																1	Substitution - Missense(1)	ovary(1)	6											176	168	171					6																	31778204		2203	4300	6503	31886183	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1546G>C	6.37:g.31778204C>G	ENSP00000364805:p.Glu516Gln		31886183	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739490	0.49045	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01197	5.19;5.19	5.55	4.64	0.57946	.	0.225916	0.22588	N	0.058138	T	0.01156	0.0038	M	0.67700	2.07	0.50813	D	0.999891	B	0.15141	0.012	B	0.26693	0.072	T	0.48210	-0.9055	10	0.62326	D	0.03	-16.9309	14.4293	0.67238	0.0:0.8526:0.1474:0.0	.	516	P34931	HS71L_HUMAN	Q	516;516;461	ENSP00000364805:E516Q;ENSP00000387691:E516Q	ENSP00000364804:E461Q	E	-	1	0	HSPA1L	31886183	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.921000	0.70028	2.890000	0.99128	0.585000	0.79938	GAG		0.478	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			G	31778204	C	G	31778204	3	3	61	1	0	0	0	0	1	0	0	0	7410	864	30	3	383	3	HSPA1L	6	31778204	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10		31778204	139336863	16	3056											
DST	667	hgsc.bcm.edu	37	6	56425125	56425125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr6:56425125delC	ENST00000361203.3	-	54	13781	c.13774delG	c.(13774-13776)gccfs	p.A4592fs	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Frame_Shift_Del_p.A2180fs|DST_ENST00000370788.2_Frame_Shift_Del_p.A2506fs|DST_ENST00000421834.2_Frame_Shift_Del_p.A2506fs|DST_ENST00000370769.4_Frame_Shift_Del_p.A4594fs|DST_ENST00000370754.5_Frame_Shift_Del_p.A4772fs|DST_ENST00000446842.2_Frame_Shift_Del_p.A4268fs			Q03001	DYST_HUMAN	dystonin	4592					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A4594fs*8(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATCTGGGGGCCTCAGGAGTA	0.398																																																1	Deletion - Frameshift(1)	ovary(1)	6											95	93	93					6																	56425125		1861	4095	5956	56533084	SO:0001589	frameshift_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13774delG	6.37:g.56425125delC	ENSP00000354508:p.Ala4592fs		56533084	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37																																																																																					0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		-	56425125	C	-	56425125	7	5	61	1	0	1	0	1	0	0	0	0	4783	739	26	0	9161	0	DST	6	56425125	Frame_Shift_Del	DEL	C	TCGA-10-0928-01A-02W-0419-10	24646921	56425125	114689942	17	3057											
RARS2	57038	hgsc.bcm.edu	37	6	88234357	88234357	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr6:88234357C>T	ENST00000369536.5	-	11	937	c.892G>A	c.(892-894)Gta>Ata	p.V298I		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	298					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.V298I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		AGATCTACTACAGCCGTTCCT	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											99	96	97					6																	88234357		2203	4300	6503	88291076	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.892G>A	6.37:g.88234357C>T	ENSP00000358549:p.Val298Ile		88291076	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	6.216	0.407993	0.11754	.	.	ENSG00000146282	ENST00000369536	T	0.64991	-0.13	5.6	1.69	0.24217	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.184455	0.47455	N	0.000223	T	0.23532	0.0569	L	0.33293	1	0.46954	D	0.999265	B	0.06786	0.001	B	0.16289	0.015	T	0.17258	-1.0375	10	0.07644	T	0.81	.	9.7589	0.40519	0.0:0.6482:0.0:0.3518	.	298	Q5T160	SYRM_HUMAN	I	298	ENSP00000358549:V298I	ENSP00000358549:V298I	V	-	1	0	RARS2	88291076	0.962000	0.33011	0.999000	0.59377	0.108000	0.19459	0.540000	0.23191	0.281000	0.22233	0.563000	0.77884	GTA		0.393	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		T	88234357	C	T	88234357	3	4	61	1	0	0	0	0	1	0	0	0	13062	478	17	2	884	2	RARS2	6	88234357	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10	31809232	88234357	82880710	18	3058											
EZR	7430	hgsc.bcm.edu	37	6	159206613	159206613	+	Silent	SNP	C	C	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr6:159206613C>A	ENST00000367075.3	-	5	363	c.195G>T	c.(193-195)gtG>gtT	p.V65V	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Silent_p.V33V|EZR_ENST00000337147.7_Silent_p.V65V	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	65	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)	p.V65V(1)	EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CCTGGGCAGACACCTGCACGA	0.562			T	ROS1	NSCLC																																		Dom	yes		6	6q25.3	7430	ezrin		E	1	Substitution - coding silent(1)	ovary(1)	6											41	40	40					6																	159206613		2203	4300	6503	159126601	SO:0001819	synonymous_variant	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.195G>T	6.37:g.159206613C>A			159126601	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	CCDS5258.1																																																																																				0.562	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		A	159206613	C	A	159206613	2	1	61	1	0	0	0	0	0	0	0	1	5335	465	17	3		3	EZR	6	159206613	Silent	SNP	C	TCGA-10-0928-01A-02W-0419-10	70972256	159206613	11908454	19	3059											
NOD1	10392	hgsc.bcm.edu	37	7	30487962	30487962	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr7:30487962T>G	ENST00000222823.4	-	7	2762	c.2237A>C	c.(2236-2238)aAg>aCg	p.K746T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	746					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.K746T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCTTAGCACCTTTACCCCACC	0.423																																																1	Substitution - Missense(1)	ovary(1)	7											168	156	160					7																	30487962		2203	4300	6503	30454487	SO:0001583	missense	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2237A>C	7.37:g.30487962T>G	ENSP00000222823:p.Lys746Thr		30454487	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394943	0.25205	.	.	ENSG00000106100	ENST00000222823	T	0.53857	0.6	5.61	4.45	0.53987	.	0.136010	0.64402	D	0.000003	T	0.39410	0.1077	L	0.31207	0.915	0.80722	D	1	P	0.35793	0.521	B	0.38378	0.272	T	0.21075	-1.0256	10	0.29301	T	0.29	.	8.9036	0.35510	0.0:0.146:0.0:0.854	.	746	Q9Y239	NOD1_HUMAN	T	746	ENSP00000222823:K746T	ENSP00000222823:K746T	K	-	2	0	NOD1	30454487	1.000000	0.71417	0.999000	0.59377	0.023000	0.10783	4.405000	0.59741	2.142000	0.66516	0.533000	0.62120	AAG		0.423	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			G	30487962	T	G	30487962	3	3	61	1	0	0	0	0	1	0	0	0	10516	1609	56	5	656	5	NOD1	7	30487962	Missense_Mutation	SNP	T	TCGA-10-0928-01A-02W-0419-10		30487962	128650701	20	3060											
RELN	5649	hgsc.bcm.edu	37	7	103113287	103113287	+	Missense_Mutation	SNP	C	C	T	rs149434986	byFrequency	TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr7:103113287C>T	ENST00000428762.1	-	65	10514	c.10355G>A	c.(10354-10356)aGa>aAa	p.R3452K	RELN_ENST00000343529.5_Missense_Mutation_p.R3450K|RELN_ENST00000424685.2_Missense_Mutation_p.R3452K|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3452	Arg-rich (basic).				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R3450K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGACCTTCGTCTTCTGTTGTA	0.373																																					NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - Missense(1)	ovary(1)	7						C	LYS/ARG,LYS/ARG	0,4406		0,0,2203	174	163	166		10355,10349	5.8	1	7	dbSNP_134	166	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	26,26	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	3452/3461,3450/3459	103113287	3,13003	2203	4300	6503	102900523	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10355G>A	7.37:g.103113287C>T	ENSP00000392423:p.Arg3452Lys		102900523	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386301	0.82902	0.0	3.49E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828	T;T;T	0.77750	-1.12;-1.12;-1.12	5.75	5.75	0.90469	.	0.118364	0.56097	D	0.000024	T	0.73560	0.3602	N	0.02011	-0.69	0.49483	D	0.999793	B;P	0.52842	0.063;0.956	B;D	0.65010	0.031;0.931	T	0.81653	-0.0835	10	0.48119	T	0.1	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	3450;3452	P78509-2;P78509	.;RELN_HUMAN	K	3452;3450;3452;969	ENSP00000392423:R3452K;ENSP00000345694:R3450K;ENSP00000388446:R3452K	ENSP00000345694:R3450K	R	-	2	0	RELN	102900523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.077000	0.57598	2.719000	0.93026	0.655000	0.94253	AGA		0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103113287	C	T	103113287	3	4	61	1	0	0	0	0	1	0	0	0	13223	913	32	2	31	2	RELN	7	103113287	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10	72625325	103113287	56025376	21	3061											
FZD3	7976	hgsc.bcm.edu	37	8	28385565	28385565	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr8:28385565G>C	ENST00000240093.3	+	5	1766	c.1288G>C	c.(1288-1290)Gta>Cta	p.V430L	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.V430L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	430					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V430L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCTTTATCTCGTACCACTCTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	8											170	170	170					8																	28385565		2203	4300	6503	28441484	SO:0001583	missense	7976			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1288G>C	8.37:g.28385565G>C	ENSP00000240093:p.Val430Leu		28441484	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238804	0.58995	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.84370	-1.84;-1.84	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	L	0.39245	1.2	0.80722	D	1	B	0.28082	0.2	B	0.33846	0.171	T	0.79999	-0.1566	10	0.44086	T	0.13	.	17.8242	0.88660	0.0:0.0:1.0:0.0	.	430	Q9NPG1	FZD3_HUMAN	L	430	ENSP00000437489:V430L;ENSP00000240093:V430L	ENSP00000240093:V430L	V	+	1	0	FZD3	28441484	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.549000	0.85964	0.563000	0.77884	GTA		0.403	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		C	28385565	G	C	28385565	3	2	61	1	0	0	0	0	1	0	0	0	6131	1145	40	3	1298	3	FZD3	8	28385565	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10		28385565	117978457	22	3062											
PDCD11	22984	hgsc.bcm.edu	37	10	105200054	105200054	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr10:105200054C>T	ENST00000369797.3	+	29	4250	c.4156C>T	c.(4156-4158)Cac>Tac	p.H1386Y		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1386	S1 motif 12. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.H1386Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGCCTTAACCACCAGAAGAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	10											88	98	94					10																	105200054		2201	4296	6497	105190044	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4156C>T	10.37:g.105200054C>T	ENSP00000358812:p.His1386Tyr		105190044	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995105	0.35226	.	.	ENSG00000148843	ENST00000369797	T	0.16897	2.31	6.04	1.85	0.25348	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	1.262220	0.04676	N	0.411545	T	0.10809	0.0264	N	0.25647	0.755	0.09310	N	1	P	0.36171	0.541	B	0.24701	0.055	T	0.27157	-1.0082	10	0.66056	D	0.02	0.0098	4.2899	0.10872	0.2314:0.5114:0.0:0.2571	.	1386	Q14690	RRP5_HUMAN	Y	1386	ENSP00000358812:H1386Y	ENSP00000358812:H1386Y	H	+	1	0	PDCD11	105190044	0.025000	0.19082	0.414000	0.26521	0.925000	0.55904	0.382000	0.20635	0.407000	0.25591	0.561000	0.74099	CAC		0.532	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			T	105200054	C	T	105200054	3	4	61	1	0	0	0	0	1	0	0	0	11617	594	21	2	4266	2	PDCD11	10	105200054	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10		105200054	30334693	23	3063											
FAM24A	118670	hgsc.bcm.edu	37	10	124672470	124672470	+	Nonstop_Mutation	SNP	A	A	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr10:124672470A>T	ENST00000368894.1	+	3	439	c.318A>T	c.(316-318)tgA>tgT	p.*106C		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	0						extracellular region (GO:0005576)		p.*106C(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		AGGGCCTCTGACTTGGGAAAG	0.398																																																1	Nonstop extension(1)	ovary(1)	10											87	70	75					10																	124672470		2203	4300	6503	124662460	SO:0001578	stop_lost	118670				CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.318A>T	10.37:g.124672470A>T	ENSP00000357889:p.*106Cysext*35		124662460		Missense_Mutation	SNP	ENST00000368894.1	37	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	A	8.496	0.863227	0.17250	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8287	0.35072	1.0:0.0:0.0:0.0	.	.	.	.	C	106	.	.	X	+	3	0	FAM24A	124662460	0.941000	0.31946	0.126000	0.21872	0.113000	0.19764	3.345000	0.52182	1.864000	0.54056	0.459000	0.35465	TGA		0.398	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		T	124672470	A	T	124672470	4	4	61	1	0	0	0	0	0	0	0	0	5547	288	10	5	324	5	FAM24A	10	124672470	Nonstop_Mutation	SNP	A	TCGA-10-0928-01A-02W-0419-10	19472416	124672470	10862277	24	3064											
CCDC67	159989	hgsc.bcm.edu	37	11	93104410	93104410	+	Silent	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr11:93104410C>T	ENST00000298050.3	+	7	853	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	251					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.L243L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATCAGAAGCTCTTGCAAGAAC	0.308																																																1	Substitution - coding silent(1)	ovary(1)	11											55	52	53					11																	93104410		1827	4078	5905	92744058	SO:0001819	synonymous_variant	159989			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.753C>T	11.37:g.93104410C>T			92744058	Q8NEF1|Q96LL7	Silent	SNP	ENST00000298050.3	37	CCDS44707.1																																																																																				0.308	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		T	93104410	C	T	93104410	2	4	61	1	0	0	0	0	0	0	0	1	2839	900	32	2		2	CCDC67	11	93104410	Silent	SNP	C	TCGA-10-0928-01A-02W-0419-10		93104410	41902106	25	3065											
APLP2	334	hgsc.bcm.edu	37	11	129993574	129993574	+	Silent	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr11:129993574C>G	ENST00000263574.5	+	7	1062	c.990C>G	c.(988-990)ctC>ctG	p.L330L	APLP2_ENST00000543137.1_Silent_p.L237L|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000338167.5_Silent_p.L330L|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Silent_p.L340L|APLP2_ENST00000345598.5_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	330	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.L330L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ACTTCGACCTCTCCAAGGGAA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	11											122	116	118					11																	129993574		2201	4297	6498	129498784	SO:0001819	synonymous_variant	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.990C>G	11.37:g.129993574C>G			129498784	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	CCDS8486.1																																																																																				0.542	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		G	129993574	C	G	129993574	2	3	61	1	0	0	0	0	0	0	0	1	779	900	32	3		3	APLP2	11	129993574	Silent	SNP	C	TCGA-10-0928-01A-02W-0419-10	36889164	129993574	5012942	26	3066											
ANO6	196527	hgsc.bcm.edu	37	12	45810569	45810569	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr12:45810569G>C	ENST00000320560.8	+	17	2301	c.2099G>C	c.(2098-2100)aGa>aCa	p.R700T	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.R700T|ANO6_ENST00000435642.1_Missense_Mutation_p.R700T|ANO6_ENST00000441606.2_Missense_Mutation_p.R682T|ANO6_ENST00000423947.3_Missense_Mutation_p.R721T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	700					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.R700T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGGAAATAAGAGTGGACGCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	12											130	111	118					12																	45810569		2203	4300	6503	44096836	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2099G>C	12.37:g.45810569G>C	ENSP00000320087:p.Arg700Thr		44096836	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238096	0.95240	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.88559	0.6469	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.999;1.0	D	0.91176	0.4972	10	0.87932	D	0	.	20.269	0.98464	0.0:0.0:1.0:0.0	.	682;721;700;700	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	T	700;721;700;700;682	ENSP00000391417:R700T;ENSP00000409126:R721T;ENSP00000413840:R700T;ENSP00000320087:R700T;ENSP00000413137:R682T	ENSP00000320087:R700T	R	+	2	0	ANO6	44096836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	AGA		0.468	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		C	45810569	G	C	45810569	3	2	61	1	0	0	0	0	1	0	0	0	701	942	33	3	2185	3	ANO6	12	45810569	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10		45810569	88041326	27	3067											
CCNT1	904	hgsc.bcm.edu	37	12	49093620	49093620	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr12:49093620A>C	ENST00000261900.3	-	5	659	c.437T>G	c.(436-438)tTt>tGt	p.F146C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	146					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.F146C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGTTAGTTCAAAGCCTTAAAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	12											193	195	194					12																	49093620		2203	4300	6503	47379887	SO:0001583	missense	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.437T>G	12.37:g.49093620A>C	ENSP00000261900:p.Phe146Cys		47379887	A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	a	22.1	4.245576	0.80024	.	.	ENSG00000129315	ENST00000261900	T	0.65178	-0.14	4.99	4.99	0.66335	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89173	0.3538	10	0.87932	D	0	-13.5106	13.98	0.64299	1.0:0.0:0.0:0.0	.	146	O60563	CCNT1_HUMAN	C	146	ENSP00000261900:F146C	ENSP00000261900:F146C	F	-	2	0	CCNT1	47379887	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.007000	0.58848	0.528000	0.53228	TTT		0.313	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		C	49093620	A	C	49093620	3	2	61	1	0	0	0	0	1	0	0	0	2934	14	1	5	1763	5	CCNT1	12	49093620	Missense_Mutation	SNP	A	TCGA-10-0928-01A-02W-0419-10	3283051	49093620	84758275	28	3068											
PABPC3	5042	hgsc.bcm.edu	37	13	25671668	25671668	+	Missense_Mutation	SNP	G	G	C	rs559352299		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr13:25671668G>C	ENST00000281589.3	+	1	1369	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	444					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.K444N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCCAAAATAAGCCCAGTGCTA	0.507																																																1	Substitution - Missense(1)	ovary(1)	13											138	136	137					13																	25671668		2203	4300	6503	24569668	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1332G>C	13.37:g.25671668G>C	ENSP00000281589:p.Lys444Asn		24569668	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	3.980	-0.006629	0.07773	.	.	ENSG00000151846	ENST00000281589	T	0.26810	1.71	0.555	0.555	0.17247	.	0.098626	0.41194	U	0.000937	T	0.10337	0.0253	N	0.08118	0	0.29225	N	0.873694	B	0.02656	0.0	B	0.01281	0.0	T	0.18178	-1.0345	10	0.27082	T	0.32	.	6.8676	0.24102	1.0E-4:0.0:0.9999:0.0	.	444	Q9H361	PABP3_HUMAN	N	444	ENSP00000281589:K444N	ENSP00000281589:K444N	K	+	3	2	PABPC3	24569668	1.000000	0.71417	0.902000	0.35471	0.096000	0.18686	5.941000	0.70195	0.564000	0.29238	0.313000	0.20887	AAG		0.507	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		C	25671668	G	C	25671668	3	2	61	1	0	0	0	0	1	0	0	0	11365	962	34	3	1334	3	PABPC3	13	25671668	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10		25671668	89498210	29	3069											
DCLK1	9201	hgsc.bcm.edu	37	13	36686117	36686117	+	Silent	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr13:36686117C>T	ENST00000360631.3	-	3	823	c.612G>A	c.(610-612)ctG>ctA	p.L204L	DCLK1_ENST00000255448.4_Silent_p.L204L|DCLK1_ENST00000379892.4_Silent_p.L204L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	204	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.L204L(3)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTTGTTCAGCAGAATCCTGA	0.527																																																3	Substitution - coding silent(3)	large_intestine(2)|ovary(1)	13											185	159	168					13																	36686117		2203	4300	6503	35584117	SO:0001819	synonymous_variant	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.612G>A	13.37:g.36686117C>T			35584117	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37																																																																																					0.527	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		T	36686117	C	T	36686117	2	4	61	1	0	0	0	0	0	0	0	1	4291	697	25	2		2	DCLK1	13	36686117	Silent	SNP	C	TCGA-10-0928-01A-02W-0419-10	11014449	36686117	78483761	30	3070											
NYNRIN	57523	hgsc.bcm.edu	37	14	24879216	24879216	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr14:24879216T>G	ENST00000382554.3	+	4	2534	c.2216T>G	c.(2215-2217)tTt>tGt	p.F739C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	739					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.F739C(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCACCAGTTTCAGATGGAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	14											21	24	23					14																	24879216		1940	4117	6057	23949056	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2216T>G	14.37:g.24879216T>G	ENSP00000371994:p.Phe739Cys		23949056	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282925	0.23392	.	.	ENSG00000205978	ENST00000382554	T	0.10477	2.87	4.75	-3.36	0.04913	.	.	.	.	.	T	0.04679	0.0127	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	9	0.44086	T	0.13	.	1.5242	0.02522	0.1342:0.4381:0.1337:0.2939	.	739	Q9P2P1	NYNRI_HUMAN	C	739	ENSP00000371994:F739C	ENSP00000371994:F739C	F	+	2	0	NYNRIN	23949056	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.193000	0.17116	-0.336000	0.08438	-0.899000	0.02877	TTT		0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			G	24879216	T	G	24879216	3	3	61	1	0	0	0	0	1	0	0	0	10796	1841	64	5	2226	5	NYNRIN	14	24879216	Missense_Mutation	SNP	T	TCGA-10-0928-01A-02W-0419-10		24879216	82470324	31	3071											
NPAS3	64067	hgsc.bcm.edu	37	14	33684437	33684437	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr14:33684437C>T	ENST00000356141.4	+	3	190	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.R71W|NPAS3_ENST00000346562.2_Missense_Mutation_p.R34W|NPAS3_ENST00000548645.1_Missense_Mutation_p.R34W|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000341321.4_Missense_Mutation_p.R64W|NPAS3_ENST00000357798.5_Missense_Mutation_p.R34W			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	64	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.R34W(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TCGCTCCCGCCGGGGAAAAGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	14											64	70	68					14																	33684437		2203	4300	6503	32754188	SO:0001583	missense	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.190C>T	14.37:g.33684437C>T	ENSP00000348460:p.Arg64Trp		32754188	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544839	0.86022	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.99232	0.74;0.15;0.31;-5.6;0.64;0.55;0.78	5.96	5.05	0.67936	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000011	D	0.99354	0.9773	M	0.77406	2.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98877	1.0768	10	0.87932	D	0	.	16.4171	0.83745	0.1325:0.8675:0.0:0.0	.	34;64;34;34	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	W	41;71;34;64;34;64;34	ENSP00000448373:R41W;ENSP00000450392:R71W;ENSP00000319610:R34W;ENSP00000344158:R64W;ENSP00000448916:R34W;ENSP00000348460:R64W;ENSP00000350446:R34W	ENSP00000344158:R64W	R	+	1	2	NPAS3	32754188	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.007000	0.57093	1.476000	0.48215	0.655000	0.94253	CGG		0.458	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			T	33684437	C	T	33684437	3	4	61	1	0	0	0	0	1	0	0	0	10564	643	23	1	200	1	NPAS3	14	33684437	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10	8805221	33684437	73665103	32	3072											
DENND4A	10260	hgsc.bcm.edu	37	15	66010133	66010133	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr15:66010133G>C	ENST00000431932.2	-	13	1998	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	DENND4A_ENST00000443035.3_Missense_Mutation_p.S597C|MIR4511_ENST00000582784.1_RNA	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	597	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S597C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGCAAAGAGAGAGGCTGCATC	0.398																																																1	Substitution - Missense(1)	ovary(1)	15											49	53	52					15																	66010133		1864	4111	5975	63797187	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1790C>G	15.37:g.66010133G>C	ENSP00000396830:p.Ser597Cys		63797187	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674889	0.88445	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.44881	0.91;0.91	5.63	5.63	0.86233	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.986;1.0;0.999	T	0.72475	-0.4282	10	0.87932	D	0	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	597;597;597	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	C	597	ENSP00000391167:S597C;ENSP00000396830:S597C	ENSP00000396830:S597C	S	-	2	0	DENND4A	63797187	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	2.641000	0.89580	0.591000	0.81541	TCT		0.398	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		C	66010133	G	C	66010133	3	2	61	1	0	0	0	0	1	0	0	0	4433	942	33	3	4014	3	DENND4A	15	66010133	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10		66010133	36521259	33	3073											
HYDIN	54768	hgsc.bcm.edu	37	16	70998699	70998699	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr16:70998699T>A	ENST00000393567.2	-	37	5870	c.5720A>T	c.(5719-5721)aAa>aTa	p.K1907I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1907					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.K1858I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTTATCTCTTTGAAGTACTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	16											28	23	24					16																	70998699		1778	4027	5805	69556200	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5720A>T	16.37:g.70998699T>A	ENSP00000377197:p.Lys1907Ile		69556200	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861013	0.51482	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.42513	0.97	4.93	1.41	0.22369	.	0.514459	0.14061	U	0.344049	T	0.39682	0.1087	L	0.29908	0.895	0.80722	D	1	P	0.44195	0.828	P	0.50896	0.653	T	0.16571	-1.0398	10	0.66056	D	0.02	.	8.5797	0.33621	0.0:0.23:0.0:0.77	.	1906	F8WD23	.	I	1907;1906	ENSP00000377197:K1907I	ENSP00000310485:K198I	K	-	2	0	HYDIN	69556200	0.825000	0.29262	0.956000	0.39512	0.257000	0.26127	1.489000	0.35562	-0.022000	0.13986	-0.571000	0.04153	AAA		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	70998699	T	A	70998699	3	1	61	1	0	0	0	0	1	0	0	0	7467	1841	64	5	9845	5	HYDIN	16	70998699	Missense_Mutation	SNP	T	TCGA-10-0928-01A-02W-0419-10		70998699	19356054	34	3074											
PITPNM3	83394	hgsc.bcm.edu	37	17	6381332	6381332	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr17:6381332G>A	ENST00000262483.8	-	8	950	c.863C>T	c.(862-864)gCc>gTc	p.A288V	PITPNM3_ENST00000421306.3_Missense_Mutation_p.A252V	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	288	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.A288V(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCTGCTGCTGGCAGGGCTGTC	0.682																																																1	Substitution - Missense(1)	ovary(1)	17											59	67	64					17																	6381332		2203	4300	6503	6322056	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.863C>T	17.37:g.6381332G>A	ENSP00000262483:p.Ala288Val		6322056	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156166	0.38021	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.18960	2.18;2.18	4.72	3.75	0.43078	.	0.207650	0.48767	D	0.000172	T	0.08758	0.0217	N	0.08118	0	0.22050	N	0.999392	B;B	0.15141	0.011;0.012	B;B	0.15484	0.013;0.004	T	0.33137	-0.9880	10	0.15066	T	0.55	.	6.3807	0.21533	0.0:0.7006:0.1999:0.0995	.	252;288	F8WEW5;Q9BZ71	.;PITM3_HUMAN	V	288;252	ENSP00000262483:A288V;ENSP00000407882:A252V	ENSP00000262483:A288V	A	-	2	0	PITPNM3	6322056	0.010000	0.17322	1.000000	0.80357	0.987000	0.75469	0.698000	0.25571	1.222000	0.43521	-0.344000	0.07964	GCC		0.682	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		A	6381332	G	A	6381332	3	1	61	1	0	0	0	0	1	0	0	0	11952	1203	42	2	2113	2	PITPNM3	17	6381332	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10		6381332	74813878	35	3075											
TP53	7157	hgsc.bcm.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr17:7579374C>T	ENST00000269305.4	-	4	502	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G105S|TP53_ENST00000420246.2_Missense_Mutation_p.G105S|TP53_ENST00000455263.2_Missense_Mutation_p.G105S|TP53_ENST00000359597.4_Missense_Mutation_p.G105S|TP53_ENST00000445888.2_Missense_Mutation_p.G105S	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	CCGTAGCTGCCCTGGTAGGTT	0.627		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"	31	Deletion - Frameshift(12)|Substitution - Missense(8)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(1)	ovary(6)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(3)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	17	GRCh37	CM043949	TP53	M							55	55	55					17																	7579374		2203	4300	6503	7520099	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.313G>A	17.37:g.7579374C>T	ENSP00000269305:p.Gly105Ser		7520099	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246866	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.75	4.75	0.60458	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	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;P;D;D;P;P;D	0.89917	1.0;0.945;0.964;0.999;0.921;0.947;1.0	D;P;P;D;D;P;D	0.97110	1.0;0.739;0.831;0.999;0.953;0.894;1.0	D	0.96136	0.9096	10	0.72032	D	0.01	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	105	ENSP00000410739:G105S;ENSP00000352610:G105S;ENSP00000269305:G105S;ENSP00000398846:G105S;ENSP00000391127:G105S;ENSP00000391478:G105S;ENSP00000424104:G105S;ENSP00000426252:G105S	ENSP00000269305:G105S	G	-	1	0	TP53	7520099	1.000000	0.71417	0.206000	0.23566	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7579374	C	T	7579374	3	4	61	1	0	0	0	0	1	0	0	0	16381	623	22	2	989	2	TP53	17	7579374	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10	1198042	7579374	73615836	36	3076											
ARSG	22901	hgsc.bcm.edu	37	17	66381226	66381226	+	Missense_Mutation	SNP	C	C	G	rs147264809		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr17:66381226C>G	ENST00000448504.2	+	9	1800	c.1004C>G	c.(1003-1005)aCg>aGg	p.T335R	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.T171R	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	335					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.T335R(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCAAGCAGACGACCTGGGAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	17											74	74	74					17																	66381226		2203	4300	6503	63892821	SO:0001583	missense	22901			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1004C>G	17.37:g.66381226C>G	ENSP00000407193:p.Thr335Arg		63892821	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008752	0.93346	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.64	5.64	0.86602	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.109289	0.64402	D	0.000006	D	0.83825	0.5338	M	0.83012	2.62	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.85588	0.1244	9	0.72032	D	0.01	.	18.4841	0.90823	0.0:1.0:0.0:0.0	.	335	Q96EG1	ARSG_HUMAN	R	335;234	.	ENSP00000407193:T234R	T	+	2	0	ARSG	63892821	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.787000	0.69013	2.652000	0.90054	0.655000	0.94253	ACG		0.552	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		G	66381226	C	G	66381226	3	3	61	1	0	0	0	0	1	0	0	0	992	536	19	3	1034	3	ARSG	17	66381226	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10	58801852	66381226	14813984	37	3077											
CYTH1	9267	hgsc.bcm.edu	37	17	76672214	76672214	+	Missense_Mutation	SNP	C	C	T	rs376898813		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr17:76672214C>T	ENST00000446868.3	-	14	1226	c.1156G>A	c.(1156-1158)Gca>Aca	p.A386T	CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000361101.4_Missense_Mutation_p.A386T|CYTH1_ENST00000589297.1_Missense_Mutation_p.A327T|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.A385T|CYTH1_ENST00000585509.1_Missense_Mutation_p.A327T			Q15438	CYH1_HUMAN	cytohesin 1	386					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.A386T(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TTCCGTGCTGCGAGCATTTCG	0.572																																																1	Substitution - Missense(1)	ovary(1)	17						C	THR/ALA,THR/ALA	2,4404	2.1+/-5.4	0,2,2201	87	64	72		1156,1153	5.1	0.6	17		72	0,8600		0,0,4300	no	missense,missense	CYTH1	NM_004762.2,NM_017456.2	58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	386/399,385/398	76672214	2,13004	2203	4300	6503	74183809	SO:0001583	missense	9267			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.1156G>A	17.37:g.76672214C>T	ENSP00000389095:p.Ala386Thr		74183809	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.503616	0.85176	4.54E-4	0.0	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763	T;T	0.13307	2.6;2.6	5.08	5.08	0.68730	.	0.116119	0.56097	D	0.000022	T	0.20495	0.0493	M	0.79475	2.455	0.80722	D	1	B	0.31931	0.347	B	0.22386	0.039	T	0.04294	-1.0962	10	0.56958	D	0.05	.	18.4292	0.90619	0.0:1.0:0.0:0.0	.	385	Q15438-2	.	T	386;386;327;327;385	ENSP00000389095:A386T;ENSP00000354398:A386T	ENSP00000262763:A385T	A	-	1	0	CYTH1	74183809	1.000000	0.71417	0.559000	0.28332	0.971000	0.66376	7.659000	0.83766	2.521000	0.84997	0.591000	0.81541	GCA		0.572	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		T	76672214	C	T	76672214	3	4	61	1	0	0	0	0	1	0	0	0	4203	768	27	1	44	1	CYTH1	17	76672214	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10	10290988	76672214	4522996	38	3078											
CPAMD8	27151	hgsc.bcm.edu	37	19	17132877	17132877	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr19:17132877C>G	ENST00000443236.1	-	2	379	c.348G>C	c.(346-348)caG>caC	p.Q116H	CPAMD8_ENST00000388925.4_Missense_Mutation_p.Q69H	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	69						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q116H(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						CCGGCTCACCCTGGGCCACCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											27	30	29					19																	17132877		1976	4157	6133	16993877	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.348G>C	19.37:g.17132877C>G	ENSP00000402505:p.Gln116His		16993877	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.262|9.262	1.043453|1.043453	0.19748|0.19748	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.53857|.	0.6;0.62|.	3.06|3.06	1.89|1.89	0.25635|0.25635	.|.	0.186232|.	0.32372|.	U|.	0.006185|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.36672|0.36672	1.1|1.1	0.28850|0.28850	N|N	0.896097|0.896097	P|.	0.48162|.	0.906|.	B|.	0.37780|.	0.258|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.46703|.	T|.	0.11|.	.|.	3.0921|3.0921	0.06297|0.06297	0.0:0.3855:0.0:0.6145|0.0:0.3855:0.0:0.6145	.|.	69|.	Q8IZJ3|.	CPMD8_HUMAN|.	H|T	116;69|127	ENSP00000291440:Q116H;ENSP00000373577:Q69H|.	ENSP00000291440:Q116H|.	Q|R	-|-	3|2	2|0	CPAMD8|CPAMD8	16993877|16993877	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.159000|0.159000	0.22180|0.22180	1.246000|1.246000	0.32803|0.32803	1.267000|1.267000	0.44247|0.44247	0.591000|0.591000	0.81541|0.81541	CAG|AGG		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		G	17132877	C	G	17132877	3	3	61	1	0	0	0	0	1	0	0	0	3795	680	24	3	5614	3	CPAMD8	19	17132877	Missense_Mutation	SNP	C	TCGA-10-0928-01A-02W-0419-10		17132877	41996106	39	3079											
ZMAT5	55954	hgsc.bcm.edu	37	22	30134344	30134344	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr22:30134344G>A	ENST00000344318.3	-	5	474	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	ZMAT5_ENST00000397781.3_Missense_Mutation_p.R120W	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	120					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)	p.R120W(2)		large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			GAGCTCAGCCGCTTGGCTCTC	0.667																																																2	Substitution - Missense(2)	ovary(2)	22											72	63	66					22																	30134344		2203	4300	6503	28464344	SO:0001583	missense	55954				CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"Zinc fingers, matrin-type"	28046	protein-coding gene	gene with protein product	"U11/U12 snRNP 20K"					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.358C>T	22.37:g.30134344G>A	ENSP00000344241:p.Arg120Trp		28464344	A8K9F6	Missense_Mutation	SNP	ENST00000344318.3	37	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816252	0.70912	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.16	1.8	0.24995	.	0.294509	0.37178	N	0.002220	T	0.52041	0.1710	L	0.56769	1.78	0.40804	D	0.983368	D	0.76494	0.999	P	0.50490	0.642	T	0.53005	-0.8499	9	0.87932	D	0	-30.5992	6.6706	0.23066	0.0856:0.0:0.416:0.4984	.	120	Q9UDW3	ZMAT5_HUMAN	W	120	.	ENSP00000344241:R120W	R	-	1	2	ZMAT5	28464344	0.996000	0.38824	0.999000	0.59377	0.956000	0.61745	0.933000	0.28897	0.281000	0.22233	0.505000	0.49811	CGG		0.667	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	NM_019103		A	30134344	G	A	30134344	3	1	61	1	0	0	0	0	1	0	0	0	17695	1086	38	1	162	1	ZMAT5	22	30134344	Missense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10		30134344	21170222	40	3080											
FBLN1	2192	hgsc.bcm.edu	37	22	45938104	45938118	+	In_Frame_Del	DEL	GTTTCCGCTGCGAAT	GTTTCCGCTGCGAAT	-	rs370157465|rs371901304|rs142302254		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	GTTTCCGCTGCGAAT	GTTTCCGCTGCGAAT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr22:45938104_45938118delGTTTCCGCTGCGAAT	ENST00000327858.6	+	10	1231_1245	c.1136_1150delGTTTCCGCTGCGAAT	c.(1135-1152)agtttccgctgcgaatgc>agc	p.FRCEC380del	FBLN1_ENST00000262722.7_In_Frame_Del_p.FRCEC380del|FBLN1_ENST00000340923.5_In_Frame_Del_p.FRCEC380del|FBLN1_ENST00000348697.2_In_Frame_Del_p.FRCEC380del|FBLN1_ENST00000402984.3_In_Frame_Del_p.FRCEC418del|FBLN1_ENST00000442170.2_In_Frame_Del_p.FRCEC380del|FBLN1_ENST00000476366.1_3'UTR	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	380	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.F380_C384delFRCEC(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTCCCGGCAGTTTCCGCTGCGAATGCAAGACGGG	0.609																																																1	Deletion - In frame(1)	ovary(1)	22																																								44316782	SO:0001651	inframe_deletion	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1136_1150delGTTTCCGCTGCGAAT	22.37:g.45938104_45938118delGTTTCCGCTGCGAAT	ENSP00000331544:p.Phe380_Cys384del		44316768	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	In_Frame_Del	DEL	ENST00000327858.6	37	CCDS14067.1																																																																																				0.609	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		-	45938118	GTTTCCGCTGCGAAT	-	45938104	7	5	61	1	0	1	0	1	0	0	0	0	5698	1029	36	0	1174	0	FBLN1	22	45938104	In_Frame_Del	DEL	GTTTCCGCTGCGAAT	TCGA-10-0928-01A-02W-0419-10	15803760	45938104	5366462	41	3081											
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29935625	29935625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chrX:29935625G>T	ENST00000378993.1	+	7	1496	c.823G>T	c.(823-825)Gga>Tga	p.G275*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.G275*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	275	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.G275*(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGGTACAGCGGAGATGTCAG	0.348																																																1	Substitution - Nonsense(1)	ovary(1)	X											59	55	57					X																	29935625		2202	4300	6502	29845546	SO:0001587	stop_gained	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.823G>T	X.37:g.29935625G>T	ENSP00000368278:p.Gly275*		29845546	A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	44	10.819807	0.99472	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	X	275	.	.	G	+	1	0	IL1RAPL1	29845546	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.431000	0.97494	2.474000	0.83562	0.600000	0.82982	GGA		0.348	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		T	29935625	G	T	29935625	4	4	61	1	0	0	0	0	0	1	0	0	7661	1117	39	3	845	3	IL1RAPL1	23	29935625	Nonsense_Mutation	SNP	G	TCGA-10-0928-01A-02W-0419-10		29935625	125334935	42	3082											
NPPB	4879	genome.wustl.edu	37	1	11918481	11918481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:11918481C>A	ENST00000376468.3	-	2	275	c.178G>T	c.(178-180)Gag>Tag	p.E60*		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	60					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.E60*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	GATGTCTGCTCCACCTGCAGC	0.652																																																1	Substitution - Nonsense(1)	ovary(1)	1											24	26	26					1																	11918481		2203	4298	6501	11841068	SO:0001587	stop_gained	4879			BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"Endogenous ligands"	7940	protein-coding gene	gene with protein product		600295	"natriuretic peptide precursor B"			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.178G>T	1.37:g.11918481C>A	ENSP00000365651:p.Glu60*		11841068	B0ZBE9|Q6FGY0|Q9P2Q7	Nonsense_Mutation	SNP	ENST00000376468.3	37	CCDS140.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413027	0.62511	.	.	ENSG00000120937	ENST00000376468	.	.	.	4.31	-0.194	0.13240	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.5458	0.12079	0.0:0.4361:0.3542:0.2097	.	.	.	.	X	60	.	ENSP00000365651:E60X	E	-	1	0	NPPB	11841068	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.936000	0.03946	0.070000	0.16634	-0.291000	0.09656	GAG		0.652	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		A	11918481	C	A	11918481	4	1	62	1	0	0	0	0	0	1	0	0	10592	864	30	3	234	3	NPPB	1	11918481	Nonsense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09		11918481	237332140	1	3083											
ARID1A	8289	genome.wustl.edu	37	1	27087417	27087417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:27087417C>G	ENST00000324856.7	+	5	2362	c.1991C>G	c.(1990-1992)tCa>tGa	p.S664*	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S281*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S664*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	664					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S664*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGAGCACATCAGGGATTTCC	0.517			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	ovary(1)	1											133	137	135					1																	27087417		2203	4300	6503	26960004	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1991C>G	1.37:g.27087417C>G	ENSP00000320485:p.Ser664*		26960004	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	39	7.421142	0.98272	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.1652	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	664;664;281	.	ENSP00000320485:S664X	S	+	2	0	ARID1A	26960004	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	TCA		0.517	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		G	27087417	C	G	27087417	4	3	62	1	0	0	0	0	0	1	0	0	913	838	29	3	2009	3	ARID1A	1	27087417	Nonsense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	15168936	27087417	222163204	2	3084											
FNDC5	252995	genome.wustl.edu	37	1	33333432	33333432	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:33333432T>A	ENST00000373471.3	-	4	487	c.421A>T	c.(421-423)Atg>Ttg	p.M141L	FNDC5_ENST00000496770.1_Missense_Mutation_p.M66L|FNDC5_ENST00000609187.1_Missense_Mutation_p.M66L	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	141					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)		p.M66L(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATCTCTTTCATGGTTACCTCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											178	143	155					1																	33333432		2203	4300	6503	33106019	SO:0001583	missense	252995			AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"Fibronectin type III domain containing"	20240	protein-coding gene	gene with protein product	"irisin"	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000373471.3:c.421A>T	1.37:g.33333432T>A	ENSP00000362570:p.Met141Leu		33106019	A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Missense_Mutation	SNP	ENST00000373471.3	37		.	.	.	.	.	.	.	.	.	.	T	19.22	3.785177	0.70222	.	.	ENSG00000160097	ENST00000373470;ENST00000373471	.	.	.	5.02	5.02	0.67125	.	0.040493	0.85682	D	0.000000	T	0.60064	0.2240	L	0.53249	1.67	0.51482	D	0.999929	B;P	0.35745	0.112;0.518	B;P	0.47827	0.069;0.558	T	0.56438	-0.7979	9	0.23891	T	0.37	-1.4451	9.5809	0.39488	0.0:0.079:0.0:0.921	.	66;125	Q8NAU1-3;Q8NAU1	.;FNDC5_HUMAN	L	66	.	ENSP00000362569:M66L	M	-	1	0	FNDC5	33106019	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	5.736000	0.68597	2.034000	0.60081	0.533000	0.62120	ATG		0.562	FNDC5-001	KNOWN	non_ATG_start|basic	protein_coding	protein_coding	OTTHUMT00000011467.3	NM_153756		A	33333432	T	A	33333432	3	1	62	1	0	0	0	0	1	0	0	0	5972	1464	51	5	302	5	FNDC5	1	33333432	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	6246015	33333432	215917189	3	3085											
MAST2	23139	genome.wustl.edu	37	1	46501738	46501738	+	Nonstop_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:46501738G>C	ENST00000361297.2	+	29	5680	c.5397G>C	c.(5395-5397)taG>taC	p.*1799Y	MAST2_ENST00000372009.2_Nonstop_Mutation_p.*1609Y	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.*1799Y(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGCAAACATAGCAGTTGTTTG	0.468																																																1	Nonstop extension(1)	ovary(1)	1											50	52	52					1																	46501738		1894	4082	5976	46274325	SO:0001578	stop_lost	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.5397G>C	1.37:g.46501738G>C	ENSP00000354671:p.*1799Tyrext*?		46274325		Nonstop_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656835	0.47467	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	5.06	0.768	0.18487	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5139	0.33235	0.3331:0.0:0.6669:0.0	.	.	.	.	Y	1799;1609	.	.	X	+	3	2	MAST2	46274325	0.997000	0.39634	0.052000	0.19188	0.585000	0.36419	1.030000	0.30153	-0.000000	0.14550	-0.143000	0.13931	TAG		0.468	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		C	46501738	G	C	46501738	4	2	62	1	0	0	0	0	0	0	0	0	9325	966	34	3	5511	3	MAST2	1	46501738	Nonstop_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	13168306	46501738	202748883	4	3086											
USP24	23358	genome.wustl.edu	37	1	55544264	55544264	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:55544264A>G	ENST00000294383.6	-	61	7260	c.7261T>C	c.(7261-7263)Tac>Cac	p.Y2421H	USP24_ENST00000407756.1_Missense_Mutation_p.Y2261H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2421					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.Y2338H(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAACAGCAGTACACTACCATC	0.438																																																1	Substitution - Missense(1)	ovary(1)	1											87	83	84					1																	55544264		1986	4179	6165	55316852	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7261T>C	1.37:g.55544264A>G	ENSP00000294383:p.Tyr2421His		55316852	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505083	0.44558	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02916	4.11;4.14	5.72	3.43	0.39272	.	0.000000	0.64402	D	0.000001	T	0.01661	0.0053	N	0.11201	0.11	0.49687	D	0.999817	B	0.06786	0.001	B	0.08055	0.003	T	0.49051	-0.8979	10	0.08381	T	0.77	.	10.0352	0.42125	0.8643:0.0:0.1357:0.0	.	2261	B7WPF4	.	H	2421;2261	ENSP00000294383:Y2421H;ENSP00000385700:Y2261H	ENSP00000294383:Y2421H	Y	-	1	0	USP24	55316852	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.048000	0.76606	0.448000	0.26722	0.533000	0.62120	TAC		0.438	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			G	55544264	A	G	55544264	3	3	62	1	0	0	0	0	1	0	0	0	17055	391	14	4	633	4	USP24	1	55544264	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	9042526	55544264	193706357	5	3087											
LRRC7	57554	genome.wustl.edu	37	1	70518803	70518803	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:70518803T>A	ENST00000035383.5	+	21	4121	c.4091T>A	c.(4090-4092)gTa>gAa	p.V1364E	LRRC7_ENST00000415775.2_Missense_Mutation_p.V648E|LRRC7_ENST00000310961.5_Missense_Mutation_p.V1322E	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1364						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.V1364E(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGGCGGGATGTACCTCCGGAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											87	84	85					1																	70518803		2203	4300	6503	70291391	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4091T>A	1.37:g.70518803T>A	ENSP00000035383:p.Val1364Glu		70291391	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560227	0.86335	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.53857	0.6;0.81;1.92	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	L	0.29908	0.895	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.994;0.987	T	0.57676	-0.7770	10	0.49607	T	0.09	.	14.9102	0.70752	0.0:0.0:0.0:1.0	.	648;1317;1364	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	E	1322;1364;648;1140	ENSP00000309245:V1322E;ENSP00000035383:V1364E;ENSP00000394867:V648E	ENSP00000035383:V1364E	V	+	2	0	LRRC7	70291391	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.742000	0.74843	2.114000	0.64651	0.533000	0.62120	GTA		0.398	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		A	70518803	T	A	70518803	3	1	62	1	0	0	0	0	1	0	0	0	9020	1638	57	5	4173	5	LRRC7	1	70518803	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	14974539	70518803	178731818	6	3088											
TGFBR3	7049	genome.wustl.edu	37	1	92163675	92163675	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:92163675C>G	ENST00000525962.1	-	14	2361	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T	TGFBR3_ENST00000212355.4_Missense_Mutation_p.S767T|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S766T			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	767					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.S767T(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTCCTTCATGCTTGGACCTTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	1											137	139	139					1																	92163675		2203	4300	6503	91936263	SO:0001583	missense	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2300G>C	1.37:g.92163675C>G	ENSP00000436127:p.Ser767Thr		91936263	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	0.245	-1.010840	0.02095	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.03	-0.618	0.11576	.	0.937473	0.09223	N	0.831683	T	0.07369	0.0186	L	0.44542	1.39	0.20196	N	0.999929	B;B;B	0.25007	0.116;0.095;0.116	B;B;B	0.22386	0.039;0.037;0.036	T	0.35226	-0.9797	10	0.29301	T	0.29	-9.3108	1.8996	0.03264	0.1492:0.3905:0.2918:0.1685	.	767;766;767	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	T	767;766;767;766	ENSP00000212355:S767T;ENSP00000359426:S766T;ENSP00000436127:S767T;ENSP00000432638:S766T	ENSP00000212355:S767T	S	-	2	0	TGFBR3	91936263	0.057000	0.20700	0.498000	0.27564	0.030000	0.12068	0.010000	0.13242	0.211000	0.20683	-0.165000	0.13383	AGC		0.368	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		G	92163675	C	G	92163675	3	3	62	1	0	0	0	0	1	0	0	0	15823	797	28	3	267	3	TGFBR3	1	92163675	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	21644872	92163675	157086946	7	3089											
SLC6A17	388662	genome.wustl.edu	37	1	110738246	110738257	+	In_Frame_Del	DEL	TTCGTCCAGCGC	TTCGTCCAGCGC	-	rs188284006	byFrequency	TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	TTCGTCCAGCGC	TTCGTCCAGCGC	TTCGTCCAGCGC	-	TTCGTCCAGCGC	TTCGTCCAGCGC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:110738246_110738257delTTCGTCCAGCGC	ENST00000331565.4	+	10	2016_2027	c.1531_1542delTTCGTCCAGCGC	c.(1531-1542)ttcgtccagcgcdel	p.FVQR511del		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	511					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.F511_R514del(1)|p.R514C(1)|p.R514R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGGGCTGTTGTTCGTCCAGCGCTCCGGAAACT	0.59																																																3	Substitution - Missense(1)|Substitution - coding silent(1)|Deletion - In frame(1)	ovary(1)|breast(1)|large_intestine(1)	1																																								110539780	SO:0001651	inframe_deletion	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1531_1542delTTCGTCCAGCGC	1.37:g.110738246_110738257delTTCGTCCAGCGC	ENSP00000330199:p.Phe511_Arg514del		110539769	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	In_Frame_Del	DEL	ENST00000331565.4	37	CCDS30799.1																																																																																				0.59	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		-	110738257	TTCGTCCAGCGC	-	110738246	7	5	62	1	0	1	0	1	0	0	0	0	14683	1725	60	0	1565	0	SLC6A17	1	110738246	In_Frame_Del	DEL	TTCGTCCAGCGC	TCGA-10-0930-01A-02W-0421-09	18574571	110738246	138512375	8	3090											
C1orf103	55791	genome.wustl.edu	37	1	111490745	111490745	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:111490745G>C	ENST00000369763.4	-	4	2536	c.2146C>G	c.(2146-2148)Caa>Gaa	p.Q716E	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Missense_Mutation_p.Q180E|LRIF1_ENST00000485275.2_Missense_Mutation_p.Q180E	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	716					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.Q716E(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAATGACTTTGTTCATAAGCT	0.358																																																1	Substitution - Missense(1)	ovary(1)	1											140	141	141					1																	111490745		2203	4300	6503	111292268	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2146C>G	1.37:g.111490745G>C	ENSP00000358778:p.Gln716Glu		111292268	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678880	0.47886	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.31769	1.91;1.48;1.48	5.71	4.77	0.60923	.	0.435503	0.22130	N	0.064207	T	0.11281	0.0275	L	0.50333	1.59	0.35855	D	0.827094	B;B	0.19073	0.033;0.008	B;B	0.19946	0.027;0.011	T	0.07309	-1.0779	10	0.07325	T	0.83	-2.8079	12.3592	0.55192	0.0:0.1698:0.8302:0.0	.	180;716	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	E	716;180;180	ENSP00000358778:Q716E;ENSP00000435259:Q180E;ENSP00000432290:Q180E	ENSP00000358778:Q716E	Q	-	1	0	LRIF1	111292268	0.799000	0.28903	0.998000	0.56505	0.958000	0.62258	1.388000	0.34442	1.353000	0.45828	0.591000	0.81541	CAA		0.358	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		C	111490745	G	C	111490745	3	2	62	1	0	0	0	0	1	0	0	0	1977	1386	48	3	167	3	C1orf103	1	111490745	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	752499	111490745	137759876	9	3091											
FCGR1A	2209	genome.wustl.edu	37	1	149761783	149761783	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:149761783T>C	ENST00000369168.4	+	5	787	c.733T>C	c.(733-735)Tac>Cac	p.Y245H	RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	245	Ig-like C2-type 3.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)	p.Y245H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCCTCTGAATACCAAATACT	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											8	8	8					1																	149761783		2053	4167	6220	148028407	SO:0001583	missense	2209			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3613	protein-coding gene	gene with protein product		146760	"Fc fragment of IgG, high affinity Ia, receptor for (CD64)"			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.733T>C	1.37:g.149761783T>C	ENSP00000358165:p.Tyr245His		148028407	P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	CCDS933.1	.	.	.	.	.	.	.	.	.	.	T	9.772	1.173042	0.21704	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.03413	3.94;3.94	3.36	2.22	0.28083	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	13.557000	0.00166	N	0.000000	T	0.04092	0.0114	M	0.77712	2.385	0.54753	D	0.999987	P	0.50066	0.931	P	0.46917	0.531	T	0.47799	-0.9089	10	0.42905	T	0.14	.	5.3687	0.16127	0.0:0.1325:0.0:0.8675	.	245	P12314	FCGR1_HUMAN	H	153;245	ENSP00000394279:Y153H;ENSP00000358165:Y245H	ENSP00000358165:Y245H	Y	+	1	0	FCGR1A	148028407	0.975000	0.34042	0.683000	0.30040	0.289000	0.27227	2.178000	0.42519	0.657000	0.30906	0.496000	0.49642	TAC		0.502	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		C	149761783	T	C	149761783	3	2	62	1	0	0	0	0	1	0	0	0	5779	1406	49	4	751	4	FCGR1A	1	149761783	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	38271038	149761783	99488838	10	3092											
MTMR11	10903	genome.wustl.edu	37	1	149907594	149907594	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:149907594C>G	ENST00000439741.2	-	3	397	c.147G>C	c.(145-147)gaG>gaC	p.E49D	MTMR11_ENST00000361405.6_Missense_Mutation_p.E49D|MTMR11_ENST00000369140.3_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.E21D|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	49							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTAGGATCTGCTCCCCTAAAG	0.547																																																0			1											48	45	46					1																	149907594		692	1591	2283	148174218	SO:0001583	missense	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.147G>C	1.37:g.149907594C>G	ENSP00000391668:p.Glu49Asp		148174218	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806317	0.50421	.	.	ENSG00000014914	ENST00000439741;ENST00000361405;ENST00000406732	D;D;D	0.89485	-2.52;-2.52;-2.52	4.68	0.478	0.16789	.	.	.	.	.	T	0.79311	0.4424	M	0.76574	2.34	0.27482	N	0.952539	P;B	0.35348	0.496;0.235	B;B	0.38264	0.269;0.098	T	0.69573	-0.5109	8	.	.	.	.	6.1694	0.20408	0.0:0.5468:0.0:0.4532	.	21;49	A4FU01-6;A4FU01	.;MTMRB_HUMAN	D	49;49;21	ENSP00000391668:E49D;ENSP00000354941:E49D;ENSP00000383948:E21D	.	E	-	3	2	MTMR11	148174218	0.988000	0.35896	0.998000	0.56505	0.987000	0.75469	0.044000	0.13992	0.224000	0.20940	-0.145000	0.13849	GAG		0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		G	149907594	C	G	149907594	3	3	62	1	0	0	0	0	1	0	0	0	9940	796	28	3	2081	3	MTMR11	1	149907594	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	145811	149907594	99343027	11	3093											
GON4L	54856	genome.wustl.edu	37	1	155726842	155726842	+	Silent	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:155726842C>T	ENST00000368331.1	-	27	5472	c.5424G>A	c.(5422-5424)ctG>ctA	p.L1808L	GON4L_ENST00000437809.1_Silent_p.L1808L|GON4L_ENST00000271883.5_Silent_p.L1808L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1808					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L1808L(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCACATCAGGCAGGGCCACTT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	1											89	85	87					1																	155726842		1931	4119	6050	153993466	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5424G>A	1.37:g.155726842C>T			153993466	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																					0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		T	155726842	C	T	155726842	2	4	62	1	0	0	0	0	0	0	0	1	6572	697	25	2		2	GON4L	1	155726842	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	5819248	155726842	93523779	12	3094											
C1orf92	149499	genome.wustl.edu	37	1	156897421	156897421	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr1:156897421G>A	ENST00000337428.7	+	7	950	c.796G>A	c.(796-798)Gac>Aac	p.D266N	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	266								p.D266N(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						CCACATCGGTGACGAGGGCGC	0.706											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											16	19	18					1																	156897421		2065	4190	6255	155164045	SO:0001583	missense	149499			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.796G>A	1.37:g.156897421G>A	ENSP00000336661:p.Asp266Asn	1782	155164045	Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532646	0.85812	.	.	ENSG00000160838	ENST00000337428	T	0.70399	-0.48	4.28	4.28	0.50868	.	0.000000	0.46442	D	0.000298	T	0.71888	0.3393	L	0.56340	1.77	0.43622	D	0.996	D;P	0.60160	0.987;0.954	P;P	0.59357	0.856;0.752	T	0.75476	-0.3304	10	0.62326	D	0.03	-33.5838	13.7263	0.62761	0.0:0.0:1.0:0.0	.	266;51	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	N	266	ENSP00000336661:D266N	ENSP00000336661:D266N	D	+	1	0	LRRC71	155164045	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	7.096000	0.76960	2.220000	0.72140	0.455000	0.32223	GAC		0.706	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		A	156897421	G	A	156897421	3	1	62	1	0	0	0	0	1	0	0	0	2069	1290	45	2	822	2	C1orf92	1	156897421	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	1170579	156897421	92353200	13	3095											
MARCO	8685	genome.wustl.edu	37	2	119729103	119729103	+	Silent	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr2:119729103C>G	ENST00000327097.4	+	4	588	c.453C>G	c.(451-453)ggC>ggG	p.G151G	MARCO_ENST00000541757.1_Silent_p.G73G	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	151	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.G151G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GTGAACAAGGCGCCCCAGGTA	0.582																																					GBM(8;18 374 7467 11269 32796)											1	Substitution - coding silent(1)	ovary(1)	2											143	134	137					2																	119729103		2203	4300	6503	119445573	SO:0001819	synonymous_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.453C>G	2.37:g.119729103C>G			119445573	B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	CCDS2124.1																																																																																				0.582	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		G	119729103	C	G	119729103	2	3	62	1	0	0	0	0	0	0	0	1	9311	755	27	3		3	MARCO	2	119729103	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09		119729103	123470270	14	3096											
LRP1B	53353	genome.wustl.edu	37	2	141081489	141081490	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	TC	TC	TC	CT	TC	TC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr2:141081489_141081490TC>CT	ENST00000389484.3	-	81	13457_13458	c.12486_12487GA>AG	c.(12484-12489)ttGAta>ttAGta	p.I4163V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4163					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGATGAGATATCAAAACACCTT	0.267										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0			2																																								140797960	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12486_12487delinsCT	2.37:g.141081489_141081490delinsCT	ENSP00000374135:p.Ile4163Val		140797959	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	DNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.267	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		CT	141081490	TC	CT	141081489	3	2	62	1	0	0	0	0	1	0	0	0	8955	1435	50	4	1356	4	LRP1B	2	141081489	Missense_Mutation	DNP	TC	TCGA-10-0930-01A-02W-0421-09	21352386	141081489	102117884	15	3097											
PLCD4	84812	genome.wustl.edu	37	2	219496889	219496889	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr2:219496889A>G	ENST00000450993.2	+	10	1642	c.1303A>G	c.(1303-1305)Aag>Gag	p.K435E	PLCD4_ENST00000417849.1_Missense_Mutation_p.K435E|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.K435E	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	435	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.K435E(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGTGAAGGGGAAGAAGTTAAC	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											39	40	40					2																	219496889		1922	4124	6046	219205133	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1303A>G	2.37:g.219496889A>G	ENSP00000388631:p.Lys435Glu		219205133	Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	CCDS46516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.148990|5.148990	0.94645|0.94645	.|.	.|.	ENSG00000115556|ENSG00000115556	ENST00000457426|ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	.|T;T;T	.|0.72282	.|-0.64;-0.64;-0.64	5.46|5.46	5.46|5.46	0.80206|0.80206	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.150308	.|0.56097	.|D	.|0.000029	D|D	0.90930|0.90930	0.7149|0.7149	H|H	0.99156|0.99156	4.45|4.45	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.94555|0.94555	0.7757|0.7757	6|10	0.37606|0.87932	T|D	0.19|0	.|.	15.3824|15.3824	0.74669|0.74669	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|435	.|Q9BRC7	.|PLCD4_HUMAN	G|E	268|435	.|ENSP00000388631:K435E;ENSP00000396942:K435E;ENSP00000396185:K435E	ENSP00000396411:E268G|ENSP00000251959:K435E	E|K	+|+	2|1	0|0	PLCD4|PLCD4	219205133|219205133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	7.944000|7.944000	0.87722|0.87722	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.507	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			G	219496889	A	G	219496889	3	3	62	1	0	0	0	0	1	0	0	0	12033	247	9	4	1337	4	PLCD4	2	219496889	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	78415400	219496889	23702484	16	3098											
COL6A3	1293	genome.wustl.edu	37	2	238274340	238274340	+	Splice_Site	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr2:238274340C>A	ENST00000295550.4	-	12	6291		c.e12+1		COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCCACAGACCTTCACGCTG	0.537																																																1	Unknown(1)	ovary(1)	2											58	57	57					2																	238274340		2203	4300	6503	237939079	SO:0001630	splice_region_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5838+1G>T	2.37:g.238274340C>A			237939079	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287556	0.40494	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0589	0.86541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237939079	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	6.486000	0.73629	2.545000	0.85829	0.650000	0.86243	.		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	A	238274340	C	A	238274340	5	1	62	1	0	0	0	0	0	0	1	0	3701	521	18	3	3826	3	COL6A3	2	238274340	Splice_Site	SNP	C	TCGA-10-0930-01A-02W-0421-09	18777451	238274340	4925033	17	3099											
MLPH	79083	genome.wustl.edu	37	2	238449122	238449122	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr2:238449122G>C	ENST00000264605.3	+	10	1530	c.1236G>C	c.(1234-1236)aaG>aaC	p.K412N	MLPH_ENST00000338530.4_Missense_Mutation_p.K384N|MLPH_ENST00000410032.1_Missense_Mutation_p.K269N|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.K344N|MLPH_ENST00000445024.2_Missense_Mutation_p.K412N	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	412					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.K412N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGACGAAAAGGCAGAGCCCA	0.612																																																1	Substitution - Missense(1)	ovary(1)	2											76	75	75					2																	238449122		2202	4299	6501	238113861	SO:0001583	missense	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1236G>C	2.37:g.238449122G>C	ENSP00000264605:p.Lys412Asn		238113861	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	CCDS2518.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	8.584|8.584|8.584	0.882963|0.882963|0.882963	0.17467|0.17467|0.17467	.|.|.	.|.|.	ENSG00000115648|ENSG00000115648|ENSG00000115648	ENST00000415753|ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373;ENST00000437893|ENST00000436965	.|T;T;T;T;T;T|.	.|0.27256|.	.|1.72;1.99;1.72;1.81;1.68;1.74|.	4.96|4.96|4.96	3.0|3.0|3.0	0.34707|0.34707|0.34707	.|.|.	.|3.323010|.	.|0.00916|.	.|N|.	.|0.002529|.	T|T|T	0.36276|0.36276|0.36276	0.0961|0.0961|0.0961	L|L|L	0.43152|0.43152|0.43152	1.355|1.355|1.355	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;P;P;B;P;P;P|.	.|0.43094|.	.|0.118;0.167;0.495;0.698;0.372;0.799;0.514;0.73|.	.|B;B;B;B;B;B;B;B|.	.|0.41202|.	.|0.037;0.034;0.077;0.156;0.114;0.297;0.106;0.35|.	T|T|T	0.21449|0.21449|0.21449	-1.0245|-1.0245|-1.0245	5|10|5	.|0.20046|.	.|T|.	.|0.44|.	-0.3676|-0.3676|-0.3676	5.7153|5.7153|5.7153	0.17956|0.17956|0.17956	0.1082:0.0:0.7034:0.1883|0.1082:0.0:0.7034:0.1883|0.1082:0.0:0.7034:0.1883	.|.|.	.|73;412;268;384;344;384;412;269|.	.|Q53QV8;B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5|.	.|.;.;.;.;.;.;MELPH_HUMAN;.|.	R|N|T	100|269;412;412;384;344;172|133	.|ENSP00000386338:K269N;ENSP00000264605:K412N;ENSP00000414849:K412N;ENSP00000341845:K384N;ENSP00000386780:K344N;ENSP00000412438:K172N|.	.|ENSP00000264605:K412N|.	G|K|R	+|+|+	1|3|2	0|2|0	MLPH|MLPH|MLPH	238113861|238113861|238113861	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.002000|0.002000|0.002000	0.10522|0.10522|0.10522	0.047000|0.047000|0.047000	0.14425|0.14425|0.14425	0.025000|0.025000|0.025000	0.13577|0.13577|0.13577	1.043000|1.043000|1.043000	0.40175|0.40175|0.40175	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGC|AAG|AGG		0.612	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		C	238449122	G	C	238449122	3	2	62	1	0	0	0	0	1	0	0	0	9633	991	35	3	1270	3	MLPH	2	238449122	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	174782	238449122	4750251	18	3100											
GRM7	2917	genome.wustl.edu	37	3	6903441	6903441	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:6903441C>A	ENST00000357716.4	+	1	640	c.366C>A	c.(364-366)ttC>ttA	p.F122L	GRM7_ENST00000389336.4_Missense_Mutation_p.F122L|GRM7_ENST00000402647.2_Missense_Mutation_p.F122L|GRM7_ENST00000403881.1_Missense_Mutation_p.F122L|GRM7_ENST00000486284.1_Missense_Mutation_p.F122L	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	122					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.F122L(1)|p.F122F(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CGCTTACTTTCGTCCAGGCGC	0.592																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)	3											70	67	68					3																	6903441		2203	4300	6503	6878441	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.366C>A	3.37:g.6903441C>A	ENSP00000350348:p.Phe122Leu		6878441	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643770	0.67244	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	5.27	2.52	0.30459	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.87716	0.6247	L	0.54908	1.71	0.47009	D	0.999284	D;D;D	0.63046	0.99;0.992;0.985	D;D;D	0.75020	0.974;0.985;0.918	D	0.84370	0.0543	10	0.39692	T	0.17	.	7.5139	0.27590	0.0:0.663:0.0:0.337	.	122;122;122	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	L	122	ENSP00000350348:F122L;ENSP00000417536:F122L;ENSP00000373987:F122L;ENSP00000385664:F122L;ENSP00000384585:F122L	ENSP00000350348:F122L	F	+	3	2	GRM7	6878441	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.237000	0.32695	0.612000	0.30071	-0.251000	0.11542	TTC		0.592	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		A	6903441	C	A	6903441	3	1	62	1	0	0	0	0	1	0	0	0	6802	883	31	3	368	3	GRM7	3	6903441	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09		6903441	191118989	19	3101											
EFHB	151651	genome.wustl.edu	37	3	19975027	19975027	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:19975027C>T	ENST00000295824.9	-	1	645	c.484G>A	c.(484-486)Gct>Act	p.A162T	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	162							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATAACGAAAGCAGGCTTTCCC	0.498																																																0			3											98	103	101					3																	19975027		2203	4300	6503	19950031	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.484G>A	3.37:g.19975027C>T	ENSP00000295824:p.Ala162Thr		19950031	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	7.831	0.719767	0.15372	.	.	ENSG00000163576	ENST00000295824;ENST00000389256	T;T	0.23348	1.91;2.21	3.73	0.906	0.19314	.	.	.	.	.	T	0.13329	0.0323	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31641	-0.9936	8	.	.	.	0.3731	3.3814	0.07256	0.2008:0.5782:0.0:0.221	.	162	Q8N7U6	EFHB_HUMAN	T	162	ENSP00000295824:A162T;ENSP00000373908:A162T	.	A	-	1	0	EFHB	19950031	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.509000	0.06336	0.185000	0.20105	-0.314000	0.08810	GCT		0.498	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		T	19975027	C	T	19975027	3	4	62	1	0	0	0	0	1	0	0	0	4945	710	25	2	2069	2	EFHB	3	19975027	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	13071586	19975027	178047403	20	3102											
SCN10A	6336	genome.wustl.edu	37	3	38739846	38739846	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:38739846G>A	ENST00000449082.2	-	27	4864	c.4865C>T	c.(4864-4866)tCt>tTt	p.S1622F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1622					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S1622F(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACCGAAGATAGAGTAGATGAA	0.547																																																1	Substitution - Missense(1)	ovary(1)	3											184	169	175					3																	38739846		2203	4300	6503	38714850	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4865C>T	3.37:g.38739846G>A	ENSP00000390600:p.Ser1622Phe		38714850	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334029	0.81801	.	.	ENSG00000185313	ENST00000449082	D	0.97850	-4.57	5.42	5.42	0.78866	Ion transport (1);	0.058698	0.64402	D	0.000001	D	0.99158	0.9709	H	0.95982	3.75	0.58432	D	0.99999	D	0.76494	0.999	D	0.66196	0.942	D	0.99129	1.0852	10	0.87932	D	0	.	19.406	0.94647	0.0:0.0:1.0:0.0	.	1622	Q9Y5Y9	SCNAA_HUMAN	F	1622	ENSP00000390600:S1622F	ENSP00000390600:S1622F	S	-	2	0	SCN10A	38714850	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.644000	0.98468	2.822000	0.97130	0.655000	0.94253	TCT		0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38739846	G	A	38739846	3	1	62	1	0	0	0	0	1	0	0	0	13915	942	33	2	1009	2	SCN10A	3	38739846	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	18764819	38739846	159282584	21	3103											
CCR8	1237	genome.wustl.edu	37	3	39374518	39374518	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:39374518C>G	ENST00000326306.4	+	2	834	c.696C>G	c.(694-696)aaC>aaG	p.N232K	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.N149K	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	232					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)	p.N232K(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AAAACCACAACAAGACCAAGG	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											122	104	110					3																	39374518		2203	4300	6503	39349522	SO:0001583	missense	1237			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.696C>G	3.37:g.39374518C>G	ENSP00000326432:p.Asn232Lys		39349522	B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	C	0.476	-0.882204	0.02530	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.35973	1.28;1.28	4.65	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.438172	0.25035	N	0.033654	T	0.14614	0.0353	N	0.10760	0.04	0.41110	D	0.985736	B;B	0.12013	0.005;0.005	B;B	0.23150	0.044;0.044	T	0.21484	-1.0244	10	0.02654	T	1	.	8.6781	0.34191	0.2329:0.3861:0.381:0.0	.	232;149	P51685;Q3KNR3	CCR8_HUMAN;.	K	232;149	ENSP00000326432:N232K;ENSP00000440474:N149K	ENSP00000326432:N232K	N	+	3	2	CCR8	39349522	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	0.858000	0.27845	0.546000	0.28920	0.655000	0.94253	AAC		0.423	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		G	39374518	C	G	39374518	3	3	62	1	0	0	0	0	1	0	0	0	2947	477	17	3	698	3	CCR8	3	39374518	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	634672	39374518	158647912	22	3104											
ZNF197	10168	genome.wustl.edu	37	3	44670729	44670729	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:44670729C>A	ENST00000396058.1	+	1	250	c.83C>A	c.(82-84)aCc>aAc	p.T28N	ZNF197_ENST00000383745.2_Missense_Mutation_p.T28N|ZNF197_ENST00000344387.4_Missense_Mutation_p.T28N|ZNF197_ENST00000383744.4_Missense_Mutation_p.T28N|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	28					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.T28N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAATGGGGAACCAGCTTCCAA	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											113	126	121					3																	44670729		2203	4300	6503	44645733	SO:0001583	missense	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.83C>A	3.37:g.44670729C>A	ENSP00000379370:p.Thr28Asn		44645733	B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618085	0.46736	.	.	ENSG00000186448	ENST00000412641;ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T;T	0.09911	2.93;5.68;3.35;5.68;3.35	4.88	4.0	0.46444	.	0.201697	0.24745	N	0.035950	T	0.05227	0.0139	N	0.08118	0	0.23506	N	0.99754	P;P	0.40578	0.722;0.534	B;B	0.34779	0.189;0.123	T	0.31364	-0.9946	10	0.42905	T	0.14	.	10.6287	0.45523	0.0:0.9087:0.0:0.0913	.	28;28	Q86VG0;O14709	.;ZN197_HUMAN	N	28	ENSP00000394713:T28N;ENSP00000373250:T28N;ENSP00000345809:T28N;ENSP00000373251:T28N;ENSP00000379370:T28N	ENSP00000334616:T28N	T	+	2	0	ZNF197	44645733	0.770000	0.28543	0.998000	0.56505	0.993000	0.82548	0.783000	0.26802	1.406000	0.46857	0.655000	0.94253	ACC		0.478	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		A	44670729	C	A	44670729	3	1	62	1	0	0	0	0	1	0	0	0	17759	507	18	3	85	3	ZNF197	3	44670729	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	5296211	44670729	153351701	23	3105											
LRRC2	79442	genome.wustl.edu	37	3	46563074	46563074	+	Missense_Mutation	SNP	C	C	T	rs146766759	byFrequency	TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:46563074C>T	ENST00000395905.3	-	8	1396	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	LRRC2_ENST00000296144.3_Missense_Mutation_p.R335Q	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	335								p.R335Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TTGGCGATCCCGTTCACTTTC	0.333																																																1	Substitution - Missense(1)	ovary(1)	3											110	108	109					3																	46563074		2203	4300	6503	46538078	SO:0001583	missense	79442			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.1004G>A	3.37:g.46563074C>T	ENSP00000379241:p.Arg335Gln		46538078	B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422048	0.25639	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.16743	2.32;2.32	4.56	-5.88	0.02290	.	1.152970	0.06570	N	0.748301	T	0.09423	0.0232	N	0.12182	0.205	0.28946	N	0.890705	B	0.02656	0.0	B	0.01281	0.0	T	0.34403	-0.9830	10	0.36615	T	0.2	.	12.606	0.56523	0.0:0.567:0.0:0.433	.	335	Q9BYS8	LRRC2_HUMAN	Q	335	ENSP00000379241:R335Q;ENSP00000296144:R335Q	ENSP00000296144:R335Q	R	-	2	0	LRRC2	46538078	0.521000	0.26258	0.640000	0.29408	0.931000	0.56810	-0.054000	0.11826	-1.194000	0.02684	-0.469000	0.05056	CGG		0.333	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			T	46563074	C	T	46563074	3	4	62	1	0	0	0	0	1	0	0	0	8976	652	23	1	119	1	LRRC2	3	46563074	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	1892345	46563074	151459356	24	3106											
DHX30	22907	genome.wustl.edu	37	3	47888807	47888807	+	Silent	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:47888807G>A	ENST00000445061.1	+	12	2381	c.1974G>A	c.(1972-1974)ctG>ctA	p.L658L	DHX30_ENST00000457607.1_Silent_p.L686L|DHX30_ENST00000348968.4_Silent_p.L630L|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Silent_p.L619L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	658	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.L658L(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGACTGATCTGGTTCTGCACA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	3											190	153	166					3																	47888807		2203	4300	6503	47863811	SO:0001819	synonymous_variant	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1974G>A	3.37:g.47888807G>A			47863811	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	CCDS2759.1																																																																																				0.607	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		A	47888807	G	A	47888807	2	1	62	1	0	0	0	0	0	0	0	1	4504	1335	47	2		2	DHX30	3	47888807	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	1325733	47888807	150133623	25	3107											
CACNA1D	776	genome.wustl.edu	37	3	53758006	53758006	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:53758006G>A	ENST00000350061.5	+	14	2591	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	CACNA1D_ENST00000288139.4_Missense_Mutation_p.A714T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A694T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	694					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.A714T(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTCCCTCAAGCACTTCTCAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	3											91	87	89					3																	53758006		2203	4300	6503	53733046	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2080G>A	3.37:g.53758006G>A	ENSP00000288133:p.Ala694Thr		53733046	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189236	0.94923	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99348	0.9771	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.76494	0.998;0.977;0.992;0.999	D;P;D;D	0.72075	0.976;0.904;0.949;0.959	D	0.99063	1.0831	10	0.87932	D	0	.	19.981	0.97324	0.0:0.0:1.0:0.0	.	694;387;694;714	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	694;714;694;387	ENSP00000288133:A694T;ENSP00000288139:A714T;ENSP00000409174:A694T;ENSP00000418014:A387T	ENSP00000288139:A714T	A	+	1	0	CACNA1D	53733046	1.000000	0.71417	0.694000	0.30210	0.972000	0.66771	4.839000	0.62810	2.729000	0.93468	0.585000	0.79938	GCA		0.483	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		A	53758006	G	A	53758006	3	1	62	1	0	0	0	0	1	0	0	0	2541	971	34	2	2306	2	CACNA1D	3	53758006	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	5869199	53758006	144264424	26	3108											
THOC7	80145	genome.wustl.edu	37	3	63820831	63820831	+	Splice_Site	SNP	T	T	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:63820831T>A	ENST00000295899.5	-	7	658	c.546A>T	c.(544-546)gaA>gaT	p.E182D	THOC7_ENST00000498422.1_5'Flank|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	182	Interaction with NIF3L1.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.E182D(1)		central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TCTACTTACTTTCCAATGTTT	0.328																																					Colon(48;665 1127 6720 18651)											1	Substitution - Missense(1)	ovary(1)	3											59	61	60					3																	63820831		2203	4299	6502	63795871	SO:0001630	splice_region_variant	80145			BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"THO complex subunits"	29874	protein-coding gene	gene with protein product	"Ngg1 interacting factor 3 like 1 binding protein 1", "functional spliceosome-associated protein 24"	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.547+1A>T	3.37:g.63820831T>A			63795871	Q6P1L3|Q8WUF2|Q9H5H0	Missense_Mutation	SNP	ENST00000295899.5	37	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698838	0.30142	.	.	ENSG00000163634	ENST00000295899	.	.	.	5.74	4.59	0.56863	.	0.087720	0.85682	D	0.000000	T	0.28167	0.0695	N	0.10945	0.07	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07083	-1.0791	9	0.09843	T	0.71	-38.2729	8.5602	0.33505	0.0:0.1573:0.0:0.8427	.	182	Q6I9Y2	THOC7_HUMAN	D	182	.	ENSP00000295899:E182D	E	-	3	2	THOC7	63795871	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.601000	0.36773	1.014000	0.39417	0.455000	0.32223	GAA		0.328	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075	Missense_Mutation	A	63820831	T	A	63820831	5	1	62	1	0	0	0	0	0	0	1	0	15870	1855	64	5	76	5	THOC7	3	63820831	Splice_Site	SNP	T	TCGA-10-0930-01A-02W-0421-09	10062825	63820831	134201599	27	3109											
EPHA6	285220	genome.wustl.edu	37	3	96706221	96706221	+	Silent	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:96706221A>G	ENST00000389672.5	+	3	536	c.498A>G	c.(496-498)acA>acG	p.T166T	EPHA6_ENST00000542517.1_Silent_p.T72T|EPHA6_ENST00000470610.2_Silent_p.T166T	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	72	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.T72T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCATTCACACATACCAGGTAT	0.373																																																2	Substitution - coding silent(2)	ovary(2)	3											108	104	105					3																	96706221		1880	4110	5990	98188911	SO:0001819	synonymous_variant	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.498A>G	3.37:g.96706221A>G			98188911	D6RAL5	Silent	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	7.841	0.721906	0.15372	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.74	-11.5	0.00074	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44375	-0.9332	4	.	.	.	.	2.1468	0.03789	0.1294:0.2234:0.343:0.3042	.	.	.	.	V	111	.	.	I	+	1	0	EPHA6	98188911	0.000000	0.05858	0.886000	0.34754	0.949000	0.60115	-3.245000	0.00542	-1.295000	0.02357	-1.074000	0.02243	ATA		0.373	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		G	96706221	A	G	96706221	2	3	62	1	0	0	0	0	0	0	0	1	5171	204	8	4		4	EPHA6	3	96706221	Silent	SNP	A	TCGA-10-0930-01A-02W-0421-09	32885390	96706221	101316209	28	3110											
SLC9A10	285335	genome.wustl.edu	37	3	111988838	111988838	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:111988838T>A	ENST00000305815.5	-	7	952	c.700A>T	c.(700-702)Atg>Ttg	p.M234L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.M234L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	234					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.M234L(1)									ACAGTTGACATCCAAAATTGA	0.338																																																1	Substitution - Missense(1)	ovary(1)	3											68	73	72					3																	111988838		2203	4295	6498	113471528	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.700A>T	3.37:g.111988838T>A	ENSP00000306627:p.Met234Leu		113471528	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	0.576	-0.839010	0.02692	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.09538	2.97;2.97	5.9	4.79	0.61399	Cation/H+ exchanger (1);	0.307176	0.30940	N	0.008575	T	0.05686	0.0149	N	0.20530	0.585	0.22468	N	0.999071	B;B	0.17852	0.024;0.021	B;B	0.15870	0.005;0.014	T	0.40979	-0.9534	10	0.02654	T	1	-16.2819	9.1526	0.36973	0.0:0.0:0.2365:0.7635	.	234;234	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	234	ENSP00000306627:M234L;ENSP00000420688:M234L	ENSP00000306627:M234L	M	-	1	0	SLC9A10	113471528	0.998000	0.40836	0.961000	0.40146	0.387000	0.30353	0.915000	0.28638	2.258000	0.74832	0.413000	0.27773	ATG		0.338	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		A	111988838	T	A	111988838	3	1	62	1	0	0	0	0	1	0	0	0	14713	1435	50	5	2925	5	SLC9A10	3	111988838	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	15282617	111988838	86033592	29	3111											
CCDC80	151887	genome.wustl.edu	37	3	112349029	112349029	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:112349029T>G	ENST00000206423.3	-	3	2919	c.1966A>C	c.(1966-1968)Aaa>Caa	p.K656Q	CCDC80_ENST00000439685.2_Missense_Mutation_p.K656Q	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	656					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.K656Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ACAGAGATTTTCCTGGTAGCC	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											147	135	139					3																	112349029		2203	4300	6503	113831719	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1966A>C	3.37:g.112349029T>G	ENSP00000206423:p.Lys656Gln		113831719	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.86|18.86	3.712509|3.712509	0.68730|0.68730	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000461431|ENST00000206423;ENST00000439685;ENST00000444594	.|T;T	.|0.43294	.|0.95;0.95	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.192248	.|0.53938	.|D	.|0.000042	T|T	0.58395|0.58395	0.2119|0.2119	M|M	0.67953|0.67953	2.075|2.075	0.51012|0.51012	D|D	0.999905|0.999905	.|P;D;D	.|0.53745	.|0.953;0.962;0.962	.|P;P;P	.|0.57846	.|0.736;0.828;0.828	T|T	0.60229|0.60229	-0.7304|-0.7304	5|10	.|0.49607	.|T	.|0.09	-9.031|-9.031	15.5543|15.5543	0.76180|0.76180	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|667;656;656	.|Q76M96-2;A3KC71;Q76M96	.|.;.;CCD80_HUMAN	A|Q	53|656;656;284	.|ENSP00000206423:K656Q;ENSP00000411814:K656Q	.|ENSP00000206423:K656Q	E|K	-|-	2|1	0|0	CCDC80|CCDC80	113831719|113831719	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.934000|0.934000	0.57294|0.57294	7.622000|7.622000	0.83099|0.83099	2.135000|2.135000	0.66039|0.66039	0.377000|0.377000	0.23210|0.23210	GAA|AAA		0.423	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		G	112349029	T	G	112349029	3	3	62	1	0	0	0	0	1	0	0	0	2854	1792	62	5	910	5	CCDC80	3	112349029	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	360191	112349029	85673401	30	3112											
KTELC1	56983	genome.wustl.edu	37	3	119205679	119205679	+	Splice_Site	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:119205679G>C	ENST00000295588.4	+	7	722		c.e7-1			NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1						cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)	p.?(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TTCTTTTATAGGACAAGTCCA	0.423																																																1	Unknown(1)	ovary(1)	3											166	165	165					3																	119205679		2203	4300	6503	120688369	SO:0001630	splice_region_variant	56983			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.639-1G>C	3.37:g.119205679G>C			120688369	B2RD13|Q53GJ4|Q8N2T1	Splice_Site	SNP	ENST00000295588.4	37	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089873	0.76756	.	.	ENSG00000163389	ENST00000295588	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0879	0.64971	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POGLUT1	120688369	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.222000	0.95196	2.781000	0.95711	0.591000	0.81541	.		0.423	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305	Intron	C	119205679	G	C	119205679	5	2	62	1	0	0	0	0	0	0	1	0	8583	1014	35	3	664	3	KTELC1	3	119205679	Splice_Site	SNP	G	TCGA-10-0930-01A-02W-0421-09	6856650	119205679	78816751	31	3113											
PARP9	83666	genome.wustl.edu	37	3	122277231	122277231	+	Silent	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:122277231G>T	ENST00000360356.2	-	3	326	c.99C>A	c.(97-99)atC>atA	p.I33I	PARP9_ENST00000477522.2_Intron|PARP9_ENST00000471785.1_Intron|PARP9_ENST00000462315.1_Intron|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	33					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I33I(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTGAGGAAAGATCTGAGCAA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	3											127	117	120					3																	122277231		2203	4300	6503	123759921	SO:0001819	synonymous_variant	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.99C>A	3.37:g.122277231G>T			123759921	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	CCDS3014.1																																																																																				0.493	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		T	122277231	G	T	122277231	2	4	62	1	0	0	0	0	0	0	0	1	11466	932	33	3		3	PARP9	3	122277231	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	3071552	122277231	75745199	32	3114											
KY	339855	genome.wustl.edu	37	3	134322972	134322972	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:134322972G>A	ENST00000423778.2	-	11	1496	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Missense_Mutation_p.R458C	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	479					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.R479C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ATGGAGCAGCGCCCGTCGCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	3											24	26	25					3																	134322972		2066	4195	6261	135805662	SO:0001583	missense	339855			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1435C>T	3.37:g.134322972G>A	ENSP00000397598:p.Arg479Cys		135805662	B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219757	0.39201	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000310263	.	.	.	5.63	5.63	0.86233	.	0.068899	0.53938	D	0.000042	T	0.33381	0.0861	N	0.17674	0.51	0.80722	D	1	B;P	0.39131	0.289;0.661	B;B	0.28385	0.03;0.089	T	0.25082	-1.0142	9	0.44086	T	0.13	-15.1437	12.9449	0.58367	0.074:0.0:0.926:0.0	.	458;479	Q8NBH2-3;Q8NBH2-4	.;.	C	458;479;479	.	ENSP00000309520:R479C	R	-	1	0	KY	135805662	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.352000	0.59404	2.659000	0.90383	0.561000	0.74099	CGC		0.622	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		A	134322972	G	A	134322972	3	1	62	1	0	0	0	0	1	0	0	0	8586	1087	38	1	554	1	KY	3	134322972	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	12045741	134322972	63699458	33	3115											
MED12L	116931	genome.wustl.edu	37	3	151067973	151067973	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr3:151067973A>G	ENST00000474524.1	+	15	2310	c.2272A>G	c.(2272-2274)Aag>Gag	p.K758E	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K618E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	758						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K758E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTAAATAAGAAGAGCACCAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											99	103	102					3																	151067973		2203	4300	6503	152550663	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2272A>G	3.37:g.151067973A>G	ENSP00000417235:p.Lys758Glu		152550663	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909136	0.92107	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.69806	-0.25;-0.43	5.81	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.65975	2.015	0.80722	D	1	D;B	0.89917	1.0;0.384	D;B	0.87578	0.998;0.159	T	0.79787	-0.1656	10	0.87932	D	0	-31.5076	11.1202	0.48284	0.9279:0.0:0.0721:0.0	.	618;758	F8WAE6;Q86YW9	.;MD12L_HUMAN	E	758;618	ENSP00000417235:K758E;ENSP00000273432:K618E	ENSP00000273432:K618E	K	+	1	0	MED12L	152550663	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.474000	0.90413	1.051000	0.40369	0.455000	0.32223	AAG		0.443	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		G	151067973	A	G	151067973	3	3	62	1	0	0	0	0	1	0	0	0	9429	247	9	4	2330	4	MED12L	3	151067973	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	16745001	151067973	46954457	34	3116											
ZNF518B	85460	genome.wustl.edu	37	4	10444765	10444783	+	Frame_Shift_Del	DEL	GTTGCTTCTATCAAATGCC	GTTGCTTCTATCAAATGCC	-	rs534874977|rs368988904|rs200802146		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	GTTGCTTCTATCAAATGCC	GTTGCTTCTATCAAATGCC	GTTGCTTCTATCAAATGCC	-	GTTGCTTCTATCAAATGCC	GTTGCTTCTATCAAATGCC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr4:10444765_10444783delGTTGCTTCTATCAAATGCC	ENST00000326756.3	-	3	3608_3626	c.3170_3188delGGCATTTGATAGAAGCAAC	c.(3169-3189)cggcatttgatagaagcaactfs	p.RHLIEAT1057fs		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1057					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R1057fs>12(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CCAATCTCTAGTTGCTTCTATCAAATGCCGTTGGCCATG	0.425																																																1	Deletion - Frameshift(1)	ovary(1)	4																																								10053881	SO:0001589	frameshift_variant	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.3170_3188delGGCATTTGATAGAAGCAAC	4.37:g.10444765_10444783delGTTGCTTCTATCAAATGCC	ENSP00000317614:p.Arg1057fs		10053863	Q96LN8	Frame_Shift_Del	DEL	ENST00000326756.3	37	CCDS33960.1																																																																																				0.425	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		-	10444783	GTTGCTTCTATCAAATGCC	-	10444765	7	5	62	1	0	1	0	1	0	0	0	0	17963	1029	36	0	40	0	ZNF518B	4	10444765	Frame_Shift_Del	DEL	GTTGCTTCTATCAAATGCC	TCGA-10-0930-01A-02W-0421-09		10444765	180709511	35	3117											
PHOX2B	8929	genome.wustl.edu	37	4	41750608	41750608	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr4:41750608G>T	ENST00000226382.2	-	1	379	c.20C>A	c.(19-21)tCt>tAt	p.S7Y	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	7					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.S7Y(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						ATTGAGGTAAGAATATTCCAT	0.478			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	1	Substitution - Missense(1)	ovary(1)	4											33	34	33					4																	41750608		2203	4300	6503	41445365	SO:0001583	missense	8929	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.20C>A	4.37:g.41750608G>T	ENSP00000226382:p.Ser7Tyr		41445365	Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755881	0.69648	.	.	ENSG00000109132	ENST00000226382	D	0.91577	-2.87	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95051	0.8187	10	0.87932	D	0	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	7	Q99453	PHX2B_HUMAN	Y	7	ENSP00000226382:S7Y	ENSP00000226382:S7Y	S	-	2	0	PHOX2B	41445365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.631000	0.98424	2.686000	0.91538	0.561000	0.74099	TCT		0.478	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			T	41750608	G	T	41750608	3	4	62	1	0	0	0	0	1	0	0	0	11859	942	33	3	936	3	PHOX2B	4	41750608	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	31305843	41750608	149403668	36	3118											
FRAS1	80144	genome.wustl.edu	37	4	79295373	79295373	+	Missense_Mutation	SNP	A	A	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr4:79295373A>T	ENST00000325942.6	+	25	3559	c.3119A>T	c.(3118-3120)tAc>tTc	p.Y1040F	FRAS1_ENST00000264895.6_Missense_Mutation_p.Y1040F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1040					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.Y1040F(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGAAGGGGTACTTTGCAGAT	0.507																																																1	Substitution - Missense(1)	ovary(1)	4											123	122	123					4																	79295373		1952	4166	6118	79514397	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3119A>T	4.37:g.79295373A>T	ENSP00000326330:p.Tyr1040Phe		79514397	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	8.100	0.776506	0.16120	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	D;D	0.89270	-2.49;-2.49	5.94	2.23	0.28157	.	0.274565	0.36591	N	0.002502	T	0.81927	0.4926	L	0.52364	1.645	0.80722	D	1	B;B	0.14805	0.011;0.002	B;B	0.14578	0.011;0.006	T	0.69957	-0.5004	10	0.22109	T	0.4	.	5.8504	0.18689	0.7392:0.0:0.1362:0.1246	.	1040;1040	E9PHH6;A2RRR8	.;.	F	1040	ENSP00000326330:Y1040F;ENSP00000264895:Y1040F	ENSP00000264895:Y1040F	Y	+	2	0	FRAS1	79514397	1.000000	0.71417	0.807000	0.32361	0.002000	0.02628	5.310000	0.65780	0.490000	0.27771	0.528000	0.53228	TAC		0.507	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79295373	A	T	79295373	3	4	62	1	0	0	0	0	1	0	0	0	6042	391	14	5	3217	5	FRAS1	4	79295373	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	37544765	79295373	111858903	37	3119											
NFKB1	4790	genome.wustl.edu	37	4	103459065	103459065	+	Silent	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr4:103459065A>G	ENST00000505458.1	+	5	484	c.207A>G	c.(205-207)ctA>ctG	p.L69L	NFKB1_ENST00000226574.4_Silent_p.L70L|NFKB1_ENST00000394820.4_Silent_p.L69L			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	69	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L70L(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	ATGGTGGACTACCTGGTGCCT	0.393																																																1	Substitution - coding silent(1)	ovary(1)	4											162	153	156					4																	103459065		2203	4300	6503	103678093	SO:0001819	synonymous_variant	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.207A>G	4.37:g.103459065A>G			103678093	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	CCDS54783.1																																																																																				0.393	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			G	103459065	A	G	103459065	2	3	62	1	0	0	0	0	0	0	0	1	10375	378	14	4		4	NFKB1	4	103459065	Silent	SNP	A	TCGA-10-0930-01A-02W-0421-09	24163692	103459065	87695211	38	3120											
OTUD4	54726	genome.wustl.edu	37	4	146058812	146058812	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr4:146058812A>C	ENST00000447906.2	-	21	3302	c.3115T>G	c.(3115-3117)Tcc>Gcc	p.S1039A	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.S974A			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1039					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.S973A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACTGCTTGGATCTACCACTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	4											193	196	195					4																	146058812		2203	4300	6503	146278262	SO:0001583	missense	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3115T>G	4.37:g.146058812A>C	ENSP00000395487:p.Ser1039Ala		146278262	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	A	14.61	2.587394	0.46110	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.38560	1.15;1.13	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.55673	0.1935	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.77557	0.99;0.978	T	0.58053	-0.7704	10	0.87932	D	0	-11.6297	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1039;1038	G3V0I6;Q01804	.;OTUD4_HUMAN	A	974;1039	ENSP00000409279:S974A;ENSP00000395487:S1039A	ENSP00000395487:S1039A	S	-	1	0	OTUD4	146278262	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.651000	0.46674	2.371000	0.80710	0.533000	0.62120	TCC		0.423	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		C	146058812	A	C	146058812	3	2	62	1	0	0	0	0	1	0	0	0	11314	333	12	5	233	5	OTUD4	4	146058812	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	42599747	146058812	45095464	39	3121											
NAF1	92345	genome.wustl.edu	37	4	164050415	164050415	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr4:164050415G>C	ENST00000274054.2	-	8	1312	c.1119C>G	c.(1117-1119)ttC>ttG	p.F373L	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	373					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F373L(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ATCCTCGTGTGAATTCTCTGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	4											104	110	108					4																	164050415		2203	4300	6503	164269865	SO:0001583	missense	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1119C>G	4.37:g.164050415G>C	ENSP00000274054:p.Phe373Leu		164269865	D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126172	0.37533	.	.	ENSG00000145414	ENST00000274054	T	0.41400	1.0	4.71	-0.0115	0.13992	.	0.451775	0.24328	N	0.039486	T	0.38639	0.1048	L	0.36672	1.1	0.29159	N	0.87786	D	0.67145	0.996	P	0.57425	0.82	T	0.40459	-0.9562	10	0.11485	T	0.65	-13.2421	8.4474	0.32849	0.4146:0.0:0.5853:0.0	.	373	Q96HR8	NAF1_HUMAN	L	373	ENSP00000274054:F373L	ENSP00000274054:F373L	F	-	3	2	NAF1	164269865	0.975000	0.34042	0.111000	0.21465	0.006000	0.05464	0.835000	0.27531	-0.168000	0.10853	-0.229000	0.12294	TTC		0.448	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		C	164050415	G	C	164050415	3	2	62	1	0	0	0	0	1	0	0	0	10140	1281	45	3	510	3	NAF1	4	164050415	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	17991603	164050415	27103861	40	3122											
IRF2	3660	genome.wustl.edu	37	4	185340638	185340638	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr4:185340638A>G	ENST00000393593.3	-	3	379	c.172T>C	c.(172-174)Tgg>Cgg	p.W58R	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	58				W -> R (in Ref. 1; CAA34073). {ECO:0000305}.	blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W58R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TGGATTGCCCAGTTTCTAAAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	4											137	139	138					4																	185340638		2203	4300	6503	185577632	SO:0001583	missense	3660				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.172T>C	4.37:g.185340638A>G	ENSP00000377218:p.Trp58Arg		185577632	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165431	0.78339	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.99413	-5.86;-5.86;-5.86;-5.86	4.99	4.99	0.66335	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-12.1334	14.8642	0.70401	1.0:0.0:0.0:0.0	.	58	P14316	IRF2_HUMAN	R	58	ENSP00000377218:W58R;ENSP00000427204:W58R;ENSP00000424552:W58R;ENSP00000422860:W58R	ENSP00000377218:W58R	W	-	1	0	IRF2	185577632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.128000	0.94424	2.088000	0.63022	0.533000	0.62120	TGG		0.403	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			G	185340638	A	G	185340638	3	3	62	1	0	0	0	0	1	0	0	0	7828	188	7	4	905	4	IRF2	4	185340638	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	21290223	185340638	5813638	41	3123											
FAT1	2195	genome.wustl.edu	37	4	187510335	187510335	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr4:187510335G>T	ENST00000441802.2	-	27	13387	c.13178C>A	c.(13177-13179)cCt>cAt	p.P4393H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4393					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P4393H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCGGCAGAGGAACGCTTGG	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											1	Substitution - Missense(1)	ovary(1)	4											141	138	139					4																	187510335		2013	4171	6184	187747329	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13178C>A	4.37:g.187510335G>T	ENSP00000406229:p.Pro4393His		187747329		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382275	0.42207	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509927	T;T	0.35789	1.29;1.29	5.38	5.38	0.77491	.	0.054165	0.85682	D	0.000000	T	0.30792	0.0776	L	0.39898	1.24	0.46458	D	0.999056	P	0.52316	0.952	P	0.45167	0.472	T	0.01795	-1.1272	10	0.14252	T	0.57	.	12.0017	0.53235	0.0:0.0:0.7132:0.2868	.	4393	Q14517	FAT1_HUMAN	H	4393;4395;83	ENSP00000406229:P4393H;ENSP00000420869:P83H	ENSP00000260147:P4395H	P	-	2	0	FAT1	187747329	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	6.468000	0.73551	2.804000	0.96469	0.462000	0.41574	CCT		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187510335	G	T	187510335	3	4	62	1	0	0	0	0	1	0	0	0	5689	1000	35	3	592	3	FAT1	4	187510335	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	2169697	187510335	3643941	42	3124											
SLC6A3	6531	genome.wustl.edu	37	5	1409901	1409901	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr5:1409901G>C	ENST00000270349.9	-	10	1460	c.1333C>G	c.(1333-1335)Cgt>Ggt	p.R445G	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R445G	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	445					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.R445G(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AAGAGCTCACGGTGTCTGTGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	5											204	147	166					5																	1409901		2203	4300	6503	1462901	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1333C>G	5.37:g.1409901G>C	ENSP00000270349:p.Arg445Gly		1462901	A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421238	0.42918	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	D;D	0.81996	-1.56;-1.56	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.93314	0.7869	H	0.95611	3.695	0.53688	D	0.999973	D	0.89917	1.0	D	0.85130	0.997	D	0.95126	0.8251	10	0.87932	D	0	.	14.0096	0.64488	0.0:0.0:1.0:0.0	.	445	Q01959	SC6A3_HUMAN	G	445	ENSP00000270349:R445G;ENSP00000399806:R445G	ENSP00000270349:R445G	R	-	1	0	SLC6A3	1462901	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	3.369000	0.52365	1.880000	0.54463	0.478000	0.44815	CGT		0.607	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		C	1409901	G	C	1409901	3	2	62	1	0	0	0	0	1	0	0	0	14688	1116	39	3	553	3	SLC6A3	5	1409901	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09		1409901	179505359	43	3125											
AQPEP	206338	genome.wustl.edu	37	5	115298443	115298443	+	Silent	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr5:115298443C>T	ENST00000357872.4	+	1	253	c.129C>T	c.(127-129)gtC>gtT	p.V43V	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		43						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V43V(1)									GCGAGCGCGTCCCACCGTCGG	0.697																																																1	Substitution - coding silent(1)	ovary(1)	5											17	20	19					5																	115298443		2168	4256	6424	115326342	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.129C>T	5.37:g.115298443C>T			115326342	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	CCDS4124.1																																																																																				0.697	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			T	115298443	C	T	115298443	2	4	62	1	0	0	0	0	0	0	0	1	834	842	30	2		2	AQPEP	5	115298443	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	113888542	115298443	65616817	44	3126											
GFRA3	2676	genome.wustl.edu	37	5	137593528	137593528	+	Silent	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr5:137593528G>C	ENST00000274721.3	-	4	831	c.585C>G	c.(583-585)gtC>gtG	p.V195V	GFRA3_ENST00000378362.3_Silent_p.V164V	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	195					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)	p.V195V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCTGAGGCAGACGTGGCGCT	0.672																																																1	Substitution - coding silent(1)	ovary(1)	5											25	26	26					5																	137593528		2203	4298	6501	137621427	SO:0001819	synonymous_variant	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.585C>G	5.37:g.137593528G>C			137621427	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	CCDS4201.1																																																																																				0.672	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		C	137593528	G	C	137593528	2	2	62	1	0	0	0	0	0	0	0	1	6349	929	33	3		3	GFRA3	5	137593528	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	22295085	137593528	43321732	45	3127											
EGR1	1958	genome.wustl.edu	37	5	137803097	137803097	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr5:137803097G>A	ENST00000239938.4	+	2	1231	c.959G>A	c.(958-960)cGc>cAc	p.R320H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	320					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R320H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AAACCCAGCCGCATGCGCAAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	5											98	108	105					5																	137803097		2203	4300	6503	137830996	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.959G>A	5.37:g.137803097G>A	ENSP00000239938:p.Arg320His		137830996		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889874	0.72524	.	.	ENSG00000120738	ENST00000239938	T	0.10960	2.82	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.39860	0.1094	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50676	-0.8800	10	0.87932	D	0	-17.9847	16.2894	0.82739	0.0:0.0:1.0:0.0	.	320	P18146	EGR1_HUMAN	H	320	ENSP00000239938:R320H	ENSP00000239938:R320H	R	+	2	0	EGR1	137830996	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.657000	0.98554	2.315000	0.78130	0.557000	0.71058	CGC		0.622	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		A	137803097	G	A	137803097	3	1	62	1	0	0	0	0	1	0	0	0	4971	1087	38	1	965	1	EGR1	5	137803097	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	209569	137803097	43112163	46	3128											
RUFY1	80230	genome.wustl.edu	37	5	179016625	179016625	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr5:179016625G>C	ENST00000319449.4	+	9	1117	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q	RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.E261Q|RUFY1_ENST00000393438.2_Missense_Mutation_p.E261Q	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	369					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.E261Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTAATTCGAGAAAGAAGTGA	0.383										HNSCC(44;0.11)																																						1	Substitution - Missense(1)	ovary(1)	5											102	101	101					5																	179016625		2203	4300	6503	178949231	SO:0001583	missense	80230			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1105G>C	5.37:g.179016625G>C	ENSP00000325594:p.Glu369Gln		178949231	Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.04|12.04	1.818166|1.818166	0.32145|0.32145	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000508609|ENST00000319449;ENST00000437570;ENST00000393438	.|T;T;T	.|0.55234	.|0.53;0.56;0.56	5.47|5.47	3.64|3.64	0.41730|0.41730	.|.	0.094982|0.094982	0.64402|0.64402	D|N	0.000001|0.000001	T|T	0.36853|0.36853	0.0982|0.0982	L|L	0.28458|0.28458	0.855|0.855	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.09465|0.09465	-1.0673|-1.0673	6|10	.|0.23302	.|T	.|0.38	-14.673|-14.673	9.472|9.472	0.38849|0.38849	0.0711:0.2748:0.6542:0.0|0.0711:0.2748:0.6542:0.0	.|.	.|369	.|Q96T51	.|RUFY1_HUMAN	D|Q	157|369;261;261	.|ENSP00000325594:E369Q;ENSP00000390025:E261Q;ENSP00000377087:E261Q	.|ENSP00000325594:E369Q	E|E	+|+	3|1	2|0	RUFY1|RUFY1	178949231|178949231	1.000000|1.000000	0.71417|0.71417	0.699000|0.699000	0.30290|0.30290	0.982000|0.982000	0.71751|0.71751	3.223000|3.223000	0.51231|0.51231	0.651000|0.651000	0.30788|0.30788	0.549000|0.549000	0.68633|0.68633	GAG|GAA		0.383	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		C	179016625	G	C	179016625	3	2	62	1	0	0	0	0	1	0	0	0	13741	943	33	3	1139	3	RUFY1	5	179016625	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	41213528	179016625	1898635	47	3129											
RREB1	6239	genome.wustl.edu	37	6	7231751	7231751	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:7231751C>T	ENST00000349384.6	+	10	3733	c.3419C>T	c.(3418-3420)tCt>tTt	p.S1140F	RREB1_ENST00000379938.2_Missense_Mutation_p.S1140F|RREB1_ENST00000379933.3_Missense_Mutation_p.S1140F|RREB1_ENST00000334984.6_Missense_Mutation_p.S1140F	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1140					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1140F(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAGGCTGCCTCTCCCACCGAG	0.701																																																1	Substitution - Missense(1)	ovary(1)	6											8	11	10					6																	7231751		2161	4252	6413	7176750	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3419C>T	6.37:g.7231751C>T	ENSP00000305560:p.Ser1140Phe		7176750	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512916	0.27123	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11385	2.93;2.91;2.93;2.78	5.73	4.85	0.62838	.	0.542866	0.16735	N	0.201692	T	0.09555	0.0235	L	0.60455	1.87	0.39057	D	0.960452	P;P;D	0.53462	0.859;0.933;0.96	B;B;P	0.46253	0.428;0.401;0.509	T	0.05338	-1.0891	10	0.46703	T	0.11	-16.3516	15.1726	0.72888	0.0:0.9313:0.0:0.0687	.	1140;1140;1140	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	F	1140	ENSP00000369265:S1140F;ENSP00000369270:S1140F;ENSP00000305560:S1140F;ENSP00000335574:S1140F	ENSP00000335574:S1140F	S	+	2	0	RREB1	7176750	0.001000	0.12720	0.025000	0.17156	0.041000	0.13682	0.668000	0.25127	1.384000	0.46424	0.655000	0.94253	TCT		0.701	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7231751	C	T	7231751	3	4	62	1	0	0	0	0	1	0	0	0	13682	913	32	2	3445	2	RREB1	6	7231751	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09		7231751	163883316	48	3130											
CAGE1	285782	genome.wustl.edu	37	6	7373749	7373749	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:7373749C>A	ENST00000512086.1	-	5	1505	c.1303G>T	c.(1303-1305)Gta>Tta	p.V435L	CAGE1_ENST00000296742.7_Missense_Mutation_p.V299L|CAGE1_ENST00000502583.1_Missense_Mutation_p.V435L|CAGE1_ENST00000379918.4_Missense_Mutation_p.V435L|CAGE1_ENST00000338150.4_Missense_Mutation_p.V435L|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	435								p.V435L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TACTGACTTACAGATTTATTT	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											122	109	113					6																	7373749		1837	4090	5927	7318748	SO:0001583	missense	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1303G>T	6.37:g.7373749C>A	ENSP00000427583:p.Val435Leu		7318748	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37		.	.	.	.	.	.	.	.	.	.	C	0.249	-1.007816	0.02112	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22	5.54	-2.36	0.06663	.	0.734007	0.12229	N	0.487609	T	0.04363	0.0120	N	0.15975	0.35	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.11329	0.006;0.004;0.006	T	0.38887	-0.9640	10	0.13470	T	0.59	-0.6299	1.9147	0.03294	0.2522:0.2209:0.3697:0.1571	.	435;435;435	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	L	435;435;435;299;435;435;435;447	ENSP00000369250:V435L;ENSP00000425493:V435L;ENSP00000296742:V299L;ENSP00000427583:V435L;ENSP00000338107:V435L;ENSP00000423789:V447L	ENSP00000296742:V299L	V	-	1	0	CAGE1	7318748	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.353000	0.07691	0.035000	0.15519	-1.465000	0.01017	GTA		0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		A	7373749	C	A	7373749	3	1	62	1	0	0	0	0	1	0	0	0	2572	478	17	3	1362	3	CAGE1	6	7373749	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	141998	7373749	163741318	49	3131											
ERVFRDE1	405754	genome.wustl.edu	37	6	11105323	11105323	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:11105323A>C	ENST00000472091.1	-	2	596	c.221T>G	c.(220-222)aTt>aGt	p.I74S	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.I74S	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	74					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.I74S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TCGATAGGAAATATGTAATTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											135	123	127					6																	11105323		2203	4300	6503	11213309	SO:0001583	missense	405754			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.221T>G	6.37:g.11105323A>C	ENSP00000420174:p.Ile74Ser		11213309		Missense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687702	0.29962	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.17854	2.25;2.25	0.235	0.235	0.15431	.	.	.	.	.	T	0.08044	0.0201	L	0.27053	0.805	0.21256	N	0.999741	D	0.54964	0.969	P	0.53760	0.734	T	0.16689	-1.0394	8	0.87932	D	0	.	.	.	.	.	74	P60508	EFRD1_HUMAN	S	74	ENSP00000420174:I74S;ENSP00000444461:I74S	ENSP00000420174:I74S	I	-	2	0	ERVFRD-1	11213309	0.930000	0.31532	0.605000	0.28930	0.607000	0.37147	0.349000	0.20055	0.263000	0.21812	0.260000	0.18958	ATT		0.458	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		C	11105323	A	C	11105323	3	2	62	1	0	0	0	0	1	0	0	0	5246	101	4	5	1399	5	ERVFRDE1	6	11105323	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	3731574	11105323	160009744	50	3132											
PKHD1	5314	genome.wustl.edu	37	6	51917880	51917880	+	Missense_Mutation	SNP	C	C	G	rs144455663		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:51917880C>G	ENST00000371117.3	-	21	2409	c.2134G>C	c.(2134-2136)Gta>Cta	p.V712L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V712L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	712					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V712L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACCTGTTACGTTTGTGTCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	6						C	LEU/VAL,LEU/VAL	2,4404	4.2+/-10.8	0,2,2201	63	63	63		2134,2134	-7.6	0	6	dbSNP_134	63	0,8600		0,0,4300	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	32,32	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	benign,benign	712/4075,712/3397	51917880	2,13004	2203	4300	6503	52025839	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2134G>C	6.37:g.51917880C>G	ENSP00000360158:p.Val712Leu		52025839	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	6.639	0.486353	0.12641	4.54E-4	0.0	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86865	-1.97;-2.18	5.63	-7.61	0.01299	.	1.280890	0.05176	N	0.500306	T	0.39009	0.1062	N	0.01874	-0.695	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.43925	-0.9361	10	0.23302	T	0.38	.	4.8656	0.13607	0.1438:0.4822:0.0934:0.2805	.	712;712	P08F94-2;P08F94	.;PKHD1_HUMAN	L	712	ENSP00000360158:V712L;ENSP00000341097:V712L	ENSP00000341097:V712L	V	-	1	0	PKHD1	52025839	0.244000	0.23889	0.017000	0.16124	0.841000	0.47740	-0.640000	0.05440	-1.308000	0.02318	-0.152000	0.13540	GTA		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51917880	C	G	51917880	3	3	62	1	0	0	0	0	1	0	0	0	11971	536	19	3	10317	3	PKHD1	6	51917880	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	40812557	51917880	119197187	51	3133											
COL21A1	81578	genome.wustl.edu	37	6	56044490	56044490	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:56044490C>T	ENST00000244728.5	-	3	923	c.526G>A	c.(526-528)Gat>Aat	p.D176N	COL21A1_ENST00000370819.1_Missense_Mutation_p.D176N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D176N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	176	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D176N(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGTTCGGCATCTTCTGTTTCT	0.398																																																1	Substitution - Missense(1)	ovary(1)	6											94	88	90					6																	56044490		1945	4145	6090	56152449	SO:0001583	missense	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.526G>A	6.37:g.56044490C>T	ENSP00000244728:p.Asp176Asn		56152449	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534844	0.45073	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.83250	-1.7;-1.7;-1.7	4.66	4.66	0.58398	von Willebrand factor, type A (3);	0.326534	0.25427	N	0.030760	T	0.47469	0.1447	N	0.01742	-0.745	0.80722	D	1	P;B	0.37276	0.589;0.175	B;B	0.33620	0.167;0.052	T	0.60326	-0.7285	10	0.18276	T	0.48	.	17.9099	0.88930	0.0:1.0:0.0:0.0	.	176;176	Q96P44-3;Q96P44	.;COLA1_HUMAN	N	176	ENSP00000244728:D176N;ENSP00000359855:D176N;ENSP00000444384:D176N	ENSP00000244728:D176N	D	-	1	0	COL21A1	56152449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.814000	0.55643	2.283000	0.76528	0.585000	0.79938	GAT		0.398	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			T	56044490	C	T	56044490	3	4	62	1	0	0	0	0	1	0	0	0	3680	913	32	2	2459	2	COL21A1	6	56044490	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	4126610	56044490	115070577	52	3134											
KCNQ5	56479	genome.wustl.edu	37	6	73821052	73821052	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:73821052G>C	ENST00000370398.1	+	7	1160	c.1051G>C	c.(1051-1053)Gca>Cca	p.A351P	KCNQ5_ENST00000342056.2_Missense_Mutation_p.A351P|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A351P|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A351P|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A351P|KCNQ5_ENST00000370392.1_Missense_Mutation_p.A351P|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A351P|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A351P	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	351					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.A351P(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTCAGGTTTTGCATTAAAAGT	0.348																																					GBM(142;1375 1859 14391 23261 44706)											1	Substitution - Missense(1)	ovary(1)	6											158	149	152					6																	73821052		2203	4300	6503	73877773	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1051G>C	6.37:g.73821052G>C	ENSP00000359425:p.Ala351Pro		73877773	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060555	0.93846	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	M	0.78637	2.42	0.80722	D	1	D;P;D;D;P;D	0.76494	0.999;0.95;0.969;0.982;0.917;0.995	D;P;P;D;B;D	0.78314	0.988;0.618;0.75;0.948;0.414;0.991	D	0.99349	1.0914	10	0.87932	D	0	.	18.9561	0.92659	0.0:0.0:1.0:0.0	.	351;351;351;351;351;351	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	P	351	ENSP00000345055:A351P;ENSP00000347326:A351P;ENSP00000359425:A351P;ENSP00000359419:A351P;ENSP00000385501:A351P;ENSP00000347853:A351P;ENSP00000384453:A351P;ENSP00000409861:A351P	ENSP00000345055:A351P	A	+	1	0	KCNQ5	73877773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.697000	0.98697	2.552000	0.86080	0.561000	0.74099	GCA		0.348	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		C	73821052	G	C	73821052	3	2	62	1	0	0	0	0	1	0	0	0	8086	1319	46	3	1077	3	KCNQ5	6	73821052	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	17776562	73821052	97294015	53	3135											
MTO1	25821	genome.wustl.edu	37	6	74183286	74183286	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:74183286A>G	ENST00000370300.4	+	4	824	c.734A>G	c.(733-735)aAa>aGa	p.K245R	MTO1_ENST00000415954.2_Missense_Mutation_p.K245R|MTO1_ENST00000498286.1_Missense_Mutation_p.K245R|MTO1_ENST00000370305.1_Missense_Mutation_p.K171R	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	245					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)	p.K245R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CGAATTGCCAAAGAGTCCATT	0.438																																																1	Substitution - Missense(1)	ovary(1)	6											123	114	117					6																	74183286		2203	4300	6503	74240007	SO:0001583	missense	25821			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.734A>G	6.37:g.74183286A>G	ENSP00000359323:p.Lys245Arg		74240007	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186637	0.57909	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000370305;ENST00000370300	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.7	4.53	0.55603	.	0.048245	0.85682	D	0.000000	T	0.64249	0.2581	L	0.38733	1.17	0.54753	D	0.999988	B;B;B	0.29481	0.245;0.086;0.179	B;B;B	0.40477	0.222;0.162;0.33	T	0.69892	-0.5022	10	0.59425	D	0.04	-23.446	10.54	0.45026	0.9252:0.0:0.0748:0.0	.	245;245;245	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	R	245;245;171;245	ENSP00000402038:K245R;ENSP00000419561:K245R;ENSP00000359328:K171R;ENSP00000359323:K245R	ENSP00000359323:K245R	K	+	2	0	MTO1	74240007	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.570000	0.60872	2.165000	0.68154	0.496000	0.49642	AAA		0.438	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		G	74183286	A	G	74183286	3	3	62	1	0	0	0	0	1	0	0	0	9953	14	1	4	748	4	MTO1	6	74183286	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	362234	74183286	96931781	54	3136											
COL12A1	1303	genome.wustl.edu	37	6	75843691	75843691	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:75843691G>C	ENST00000322507.8	-	33	5856	c.5547C>G	c.(5545-5547)aaC>aaG	p.N1849K	COL12A1_ENST00000483888.2_Missense_Mutation_p.N1849K|COL12A1_ENST00000345356.6_Missense_Mutation_p.N685K|COL12A1_ENST00000416123.2_Missense_Mutation_p.N1849K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1849	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.N1849K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACACTCTCAGGTTCCTTACAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											109	100	103					6																	75843691		1960	4157	6117	75900411	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5547C>G	6.37:g.75843691G>C	ENSP00000325146:p.Asn1849Lys		75900411	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.85|18.85	3.711465|3.711465	0.68730|0.68730	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.61274|.	0.12;0.12;0.12;0.12|.	5.95|5.95	4.17|4.17	0.49024|0.49024	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67487|0.67487	0.2898|0.2898	M|M	0.87038|0.87038	2.855|2.855	0.47819|0.47819	D|D	0.999528|0.999528	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.71090|0.71090	-0.4693|-0.4693	10|5	0.87932|.	D|.	0|.	.|.	9.269|9.269	0.37659|0.37659	0.2191:0.0:0.7809:0.0|0.2191:0.0:0.7809:0.0	.|.	685;1849|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	K|A	1849;1849;685;1849;1849|584	ENSP00000325146:N1849K;ENSP00000305147:N685K;ENSP00000412864:N1849K;ENSP00000421216:N1849K|.	ENSP00000325146:N1849K|.	N|P	-|-	3|1	2|0	COL12A1|COL12A1	75900411|75900411	1.000000|1.000000	0.71417|0.71417	0.751000|0.751000	0.31187|0.31187	0.918000|0.918000	0.54935|0.54935	3.919000|3.919000	0.56439|0.56439	0.844000|0.844000	0.35094|0.35094	-0.136000|-0.136000	0.14681|0.14681	AAC|CCT		0.458	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		C	75843691	G	C	75843691	3	2	62	1	0	0	0	0	1	0	0	0	3669	1252	44	3	3780	3	COL12A1	6	75843691	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	1660405	75843691	95271376	55	3137											
SNAP91	9892	genome.wustl.edu	37	6	84270597	84270597	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:84270597C>A	ENST00000439399.2	-	27	2828	c.2512G>T	c.(2512-2514)Gca>Tca	p.A838S	SNAP91_ENST00000428679.2_Missense_Mutation_p.A838S|SNAP91_ENST00000521743.1_Missense_Mutation_p.A838S|SNAP91_ENST00000195649.6_Missense_Mutation_p.A833S|SNAP91_ENST00000520302.1_Missense_Mutation_p.A808S|SNAP91_ENST00000369694.2_Missense_Mutation_p.A838S|SNAP91_ENST00000521485.1_Missense_Mutation_p.A833S|SNAP91_ENST00000437520.1_Missense_Mutation_p.A531S|SNAP91_ENST00000520213.1_Missense_Mutation_p.A531S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	838	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.A838S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CCAAATCCTGCTCCAGGTTGT	0.418																																																1	Substitution - Missense(1)	ovary(1)	6											45	45	45					6																	84270597		1936	4142	6078	84327316	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2512G>T	6.37:g.84270597C>A	ENSP00000400459:p.Ala838Ser		84327316	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293232	0.23564	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.24908	2.38;2.38;2.38;2.38;2.38;2.39;2.38;2.38;2.39;1.83	5.64	-2.81	0.05805	.	0.515863	0.23404	N	0.048547	T	0.08133	0.0203	L	0.54323	1.7	0.21355	N	0.999718	B;P;P;P;P	0.45715	0.005;0.865;0.787;0.787;0.787	B;B;B;B;B	0.43754	0.007;0.43;0.351;0.404;0.332	T	0.41998	-0.9477	10	0.15952	T	0.53	0.0343	7.7292	0.28777	0.0:0.4159:0.1866:0.3975	.	714;531;808;838;836	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	S	833;838;838;833;838;531;808;838;531;179	ENSP00000429776:A833S;ENSP00000358708:A838S;ENSP00000400459:A838S;ENSP00000195649:A833S;ENSP00000412492:A838S;ENSP00000413277:A531S;ENSP00000428511:A808S;ENSP00000428215:A838S;ENSP00000428026:A531S;ENSP00000430255:A179S	ENSP00000195649:A833S	A	-	1	0	SNAP91	84327316	0.748000	0.28294	0.949000	0.38748	0.175000	0.22909	-0.422000	0.07043	-0.474000	0.06862	-0.315000	0.08773	GCA		0.418	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			A	84270597	C	A	84270597	3	1	62	1	0	0	0	0	1	0	0	0	14836	797	28	3	223	3	SNAP91	6	84270597	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	8426906	84270597	86844470	56	3138											
PREP	5550	genome.wustl.edu	37	6	105771645	105771645	+	Splice_Site	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:105771645T>G	ENST00000369110.3	-	10	1406		c.e10-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.?(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AAATGATACCTAAAAAGTAGA	0.443																																																1	Unknown(1)	ovary(1)	6											108	106	107					6																	105771645		2203	4300	6503	105878338	SO:0001630	splice_region_variant	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1214-2A>C	6.37:g.105771645T>G			105878338	Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383790	0.61845	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3514	0.83213	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105878338	1.000000	0.71417	0.983000	0.44433	0.790000	0.44656	7.669000	0.83911	2.252000	0.74401	0.533000	0.62120	.		0.443	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	G	105771645	T	G	105771645	5	3	62	1	0	0	0	0	0	0	1	0	12477	1536	53	5	944	5	PREP	6	105771645	Splice_Site	SNP	T	TCGA-10-0930-01A-02W-0421-09	21501048	105771645	65343422	57	3139											
RPF2	84154	genome.wustl.edu	37	6	111329322	111329330	+	In_Frame_Del	DEL	CTAAAAAGT	CTAAAAAGT	-	rs146951817		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	CTAAAAAGT	CTAAAAAGT	CTAAAAAGT	-	CTAAAAAGT	CTAAAAAGT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:111329322_111329330delCTAAAAAGT	ENST00000441448.2	+	7	567_575	c.475_483delCTAAAAAGT	c.(475-483)ctaaaaagtdel	p.LKS159del	RNU6-906P_ENST00000384700.1_RNA	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	159	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L159_S161del(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TTATAGAAGACTAAAAAGTCTTCTTATTG	0.344																																																1	Deletion - In frame(1)	ovary(1)	6																																								111436023	SO:0001651	inframe_deletion	84154			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.475_483delCTAAAAAGT	6.37:g.111329322_111329330delCTAAAAAGT	ENSP00000402338:p.Leu159_Ser161del		111436015	Q5VXN1|Q8N4A1	In_Frame_Del	DEL	ENST00000441448.2	37	CCDS5088.1																																																																																				0.344	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		-	111329330	CTAAAAAGT	-	111329322	7	5	62	1	0	1	0	1	0	0	0	0	13550	564	20	0	501	0	RPF2	6	111329322	In_Frame_Del	DEL	CTAAAAAGT	TCGA-10-0930-01A-02W-0421-09	5557677	111329322	59785745	58	3140											
C6orf170	221322	genome.wustl.edu	37	6	121401919	121401919	+	Nonstop_Mutation	SNP	A	A	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr6:121401919A>T	ENST00000398212.2	-	32	3821	c.3772T>A	c.(3772-3774)Tag>Aag	p.*1258K	TBC1D32_ENST00000275159.6_Nonstop_Mutation_p.*1299K|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	0					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.*1258K(1)									CTCATGATCTATGTGCTCTGC	0.373																																																1	Nonstop extension(1)	ovary(1)	6											108	100	103					6																	121401919		1884	4139	6023	121443618	SO:0001578	stop_lost	221322			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3772T>A	6.37:g.121401919A>T			121443618	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Nonstop_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.148147	0.57151	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.55	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8614	0.41116	0.9222:0.0:0.0778:0.0	.	.	.	.	K	1299;1258	.	.	X	-	1	0	C6orf170	121443618	0.998000	0.40836	0.017000	0.16124	0.006000	0.05464	4.724000	0.61972	1.033000	0.39918	-0.274000	0.10170	TAG		0.373	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		T	121401919	A	T	121401919	4	4	62	1	0	0	0	0	0	0	0	0	2344	462	16	5	5	5	C6orf170	6	121401919	Nonstop_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	10072597	121401919	49713148	59	3141											
HECW1	23072	genome.wustl.edu	37	7	43532713	43532713	+	Missense_Mutation	SNP	G	G	A	rs569020073	byFrequency	TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr7:43532713G>A	ENST00000395891.2	+	19	3976	c.3371G>A	c.(3370-3372)cGc>cAc	p.R1124H	HECW1_ENST00000453890.1_Missense_Mutation_p.R1090H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1124					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1103H(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCATTTCTTCGCCAGCCAAAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											75	72	73					7																	43532713		1931	4149	6080	43499238	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3371G>A	7.37:g.43532713G>A	ENSP00000379228:p.Arg1124His		43499238	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	33	5.195524	0.94960	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.85484	-1.99;-1.99	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.91246	0.7241	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.985	D	0.90120	0.4198	10	0.38643	T	0.18	.	18.624	0.91331	0.0:0.0:1.0:0.0	.	1090;1124	B4DH42;Q76N89	.;HECW1_HUMAN	H	1124;1090;1124	ENSP00000379228:R1124H;ENSP00000407774:R1090H	ENSP00000265522:R1124H	R	+	2	0	HECW1	43499238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.400000	0.97290	2.499000	0.84300	0.655000	0.94253	CGC		0.463	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43532713	G	A	43532713	3	1	62	1	0	0	0	0	1	0	0	0	7042	1087	38	1	3437	1	HECW1	7	43532713	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09		43532713	115605950	60	3142											
NPC1L1	29881	genome.wustl.edu	37	7	44556455	44556455	+	Silent	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr7:44556455G>A	ENST00000289547.4	-	17	3502	c.3447C>T	c.(3445-3447)ccC>ccT	p.P1149P	NPC1L1_ENST00000381160.3_Silent_p.P1122P|NPC1L1_ENST00000546276.1_Silent_p.P1076P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1149					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.P1149P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGCGAAGGTGGGCACAAGGC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	7											83	74	77					7																	44556455		2203	4300	6503	44522980	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3447C>T	7.37:g.44556455G>A			44522980	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	CCDS5491.1																																																																																				0.587	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		A	44556455	G	A	44556455	2	1	62	1	0	0	0	0	0	0	0	1	10571	1335	47	2		2	NPC1L1	7	44556455	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	1023742	44556455	114582208	61	3143											
KRIT1	889	genome.wustl.edu	37	7	91843286	91843286	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr7:91843286T>C	ENST00000340022.2	-	16	2756	c.1738A>G	c.(1738-1740)Aat>Gat	p.N580D	KRIT1_ENST00000394503.2_Missense_Mutation_p.N532D|KRIT1_ENST00000394505.2_Missense_Mutation_p.N580D|KRIT1_ENST00000394507.1_Missense_Mutation_p.N580D|KRIT1_ENST00000412043.2_Missense_Mutation_p.N580D	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	580	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.N580D(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATTTTAGATTTTCTTCACTG	0.338																																																1	Substitution - Missense(1)	ovary(1)	7											170	157	162					7																	91843286		2203	4300	6503	91681222	SO:0001583	missense	889			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1738A>G	7.37:g.91843286T>C	ENSP00000344668:p.Asn580Asp		91681222	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695881	0.88830	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;D	0.81908	-1.05;-1.05;-1.05;-1.05;-1.55	5.67	5.67	0.87782	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.052357	0.85682	D	0.000000	T	0.81197	0.4772	L	0.39633	1.23	0.80722	D	1	B;P;B	0.38745	0.296;0.645;0.296	B;P;B	0.44623	0.226;0.455;0.226	T	0.78573	-0.2152	10	0.25751	T	0.34	-0.2027	15.9272	0.79628	0.0:0.0:0.0:1.0	.	580;532;580	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	D	580;580;580;580;532	ENSP00000378015:N580D;ENSP00000344668:N580D;ENSP00000410909:N580D;ENSP00000378013:N580D;ENSP00000378011:N532D	ENSP00000344668:N580D	N	-	1	0	KRIT1	91681222	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.015000	0.88690	2.153000	0.67306	0.533000	0.62120	AAT		0.338	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			C	91843286	T	C	91843286	3	2	62	1	0	0	0	0	1	0	0	0	8445	1841	64	4	488	4	KRIT1	7	91843286	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	47286831	91843286	67295377	62	3144											
GNB2	2783	genome.wustl.edu	37	7	100275154	100275154	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr7:100275154A>G	ENST00000303210.4	+	6	783	c.301A>G	c.(301-303)Atg>Gtg	p.M101V	GNB2_ENST00000419828.1_Start_Codon_SNP_p.M1V|GNB2_ENST00000424361.1_Missense_Mutation_p.M57V|GNB2_ENST00000436220.1_Missense_Mutation_p.M57V|GNB2_ENST00000393924.1_Missense_Mutation_p.M101V|GNB2_ENST00000427895.1_Start_Codon_SNP_p.M1V|GNB2_ENST00000393926.1_Missense_Mutation_p.M101V	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	101					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.M101V(1)		endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CTCCTGGGTAATGACCTGTGC	0.677																																																1	Substitution - Missense(1)	ovary(1)	7											51	54	53					7																	100275154		2202	4300	6502	100113090	SO:0001583	missense	2783			M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"WD repeat domain containing"	4398	protein-coding gene	gene with protein product	"G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2"	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.301A>G	7.37:g.100275154A>G	ENSP00000305260:p.Met101Val		100113090	B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.060640	0.76074	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000431068;ENST00000412215;ENST00000393924	T;T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.29;0.29;0.22;0.22;0.22;0.22	5.17	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.046925	0.85682	N	0.000000	T	0.69441	0.3111	M	0.86573	2.825	0.51233	D	0.99991	B	0.30236	0.274	P	0.44811	0.461	T	0.73965	-0.3816	10	0.87932	D	0	-1.6969	8.4296	0.32750	0.9072:0.0:0.0928:0.0	.	101	P62879	GBB2_HUMAN	V	101;101;57;57;1;1;101;101;101;101	ENSP00000305260:M101V;ENSP00000399904:M101V;ENSP00000401873:M57V;ENSP00000389391:M57V;ENSP00000390543:M1V;ENSP00000400286:M1V;ENSP00000377503:M101V;ENSP00000390077:M101V;ENSP00000413219:M101V;ENSP00000377501:M101V	ENSP00000305260:M101V	M	+	1	0	GNB2	100113090	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.531000	0.81973	1.958000	0.56883	0.379000	0.24179	ATG		0.677	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		G	100275154	A	G	100275154	3	3	62	1	0	0	0	0	1	0	0	0	6517	101	4	4	319	4	GNB2	7	100275154	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	8431868	100275154	58863509	63	3145											
TSGA13	114960	genome.wustl.edu	37	7	130368492	130368492	+	Silent	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr7:130368492T>G	ENST00000456951.1	-	4	893	c.42A>C	c.(40-42)tcA>tcC	p.S14S	TSGA13_ENST00000356588.3_Silent_p.S14S			Q96PP4	TSG13_HUMAN	testis specific, 13	14								p.S14S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CTGAAGTCTTTGATTTGCCAT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	7											171	149	157					7																	130368492		2203	4300	6503	130019032	SO:0001819	synonymous_variant	114960			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.42A>C	7.37:g.130368492T>G			130019032	B3KSC9	Silent	SNP	ENST00000456951.1	37	CCDS5824.1																																																																																				0.398	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		G	130368492	T	G	130368492	2	3	62	1	0	0	0	0	0	0	0	1	16619	1799	63	5		5	TSGA13	7	130368492	Silent	SNP	T	TCGA-10-0930-01A-02W-0421-09	30093338	130368492	28770171	64	3146											
UBN2	254048	genome.wustl.edu	37	7	138946183	138946184	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	CA	CA	CA	-	CA	CA	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr7:138946183_138946184delCA	ENST00000473989.3	+	6	1091_1092	c.1091_1092delCA	c.(1090-1092)gcafs	p.A364fs	UBN2_ENST00000288561.8_Frame_Shift_Del_p.A281fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	364						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.L282fs*3(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCTGCTGCAGCACTGGGGAATG	0.475																																																1	Deletion - Frameshift(1)	ovary(1)	7																																								138596724	SO:0001589	frameshift_variant	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1091_1092delCA	7.37:g.138946183_138946184delCA	ENSP00000418648:p.Ala364fs		138596723	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Frame_Shift_Del	DEL	ENST00000473989.3	37	CCDS43655.2																																																																																				0.475	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		-	138946184	CA	-	138946183	7	5	62	1	0	1	0	1	0	0	0	0	16893	710	25	0	1113	0	UBN2	7	138946183	Frame_Shift_Del	DEL	CA	TCGA-10-0930-01A-02W-0421-09	8577691	138946183	20192480	65	3147											
LOC441294	441294	genome.wustl.edu	37	7	143270356	143270356	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr7:143270356A>C	ENST00000420911.2	+	1	1463	c.1446A>C	c.(1444-1446)gaA>gaC	p.E482D	RNU6-162P_ENST00000516228.1_RNA	NM_001008747.1	NP_001008747.1	A4D2H0	CTGEF_HUMAN	CTAGE family, member 15	482						integral component of membrane (GO:0016021)											TAAGGAAAGAAAATGCTCACA	0.338																																																0			7											3	4	4					7																	143270356		827	1855	2682	142980478	SO:0001583	missense	441294				CCDS64788.1	7q35	2013-02-25	2013-02-25	2013-02-25	ENSG00000176227	ENSG00000271079			37295	protein-coding gene	gene with protein product			"CTAGE family, member 15, pseudogene"	CTAGE15P			Standard	NM_001008747		Approved		uc011kth.3	A4D2H0	OTTHUMG00000153233	ENST00000420911.2:c.1446A>C	7.37:g.143270356A>C	ENSP00000474204:p.Glu482Asp		142980478	A6H8Z8	Missense_Mutation	SNP	ENST00000420911.2	37																																																																																					0.338	CTAGE15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330280.2	NM_001008747		C	143270356	A	C	143270356	3	2	62	1	0	0	0	0	1	0	0	0	8880	11	1	5	1448	5	LOC441294	7	143270356	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	4324173	143270356	15868307	66	3148											
CTAGE4	100128553	genome.wustl.edu	37	7	143881302	143881302	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr7:143881302G>C	ENST00000486333.1	+	1	744	c.706G>C	c.(706-708)Gga>Cga	p.G236R		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	236						integral component of membrane (GO:0016021)		p.G236R(1)		endometrium(1)|ovary(2)	3						AGTATGGAAAGGAGAAGTGAG	0.363																																																1	Substitution - Missense(1)	ovary(1)	7											10	15	15					7																	143881302		85	576	661	143512235	SO:0001583	missense	100128553			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.706G>C	7.37:g.143881302G>C	ENSP00000419539:p.Gly236Arg		143512235	A8K871|O95046	RNA	SNP	ENST00000486333.1	37	CCDS55176.1	.	.	.	.	.	.	.	.	.	.	.	3.096	-0.185790	0.06340	.	.	ENSG00000225932	ENST00000486333	T	0.37584	1.19	.	.	.	.	.	.	.	.	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19910	-1.0291	8	0.59425	D	0.04	.	4.7188	0.12909	0.0:0.0:1.0:0.0	.	236	Q8IX94	CTGE4_HUMAN	R	236	ENSP00000419539:G236R	ENSP00000419539:G236R	G	+	1	0	CTAGE4	143512235	0.329000	0.24696	0.100000	0.21137	0.100000	0.18952	1.733000	0.38156	0.149000	0.19098	0.152000	0.16155	GGA		0.363	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495		C	143881302	G	C	143881302	3	2	62	1	0	0	0	0	1	0	0	0	3993	1001	35	3	708	3	CTAGE4	7	143881302	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	610946	143881302	15257361	67	3149											
GIMAP6	474344	genome.wustl.edu	37	7	150325052	150325052	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr7:150325052G>T	ENST00000328902.5	-	3	850	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	212	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.L212M(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTCTCGCAGTTGGGCCTCC	0.532																																																1	Substitution - Missense(1)	ovary(1)	7											130	135	133					7																	150325052		2203	4300	6503	149955985	SO:0001583	missense	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.634C>A	7.37:g.150325052G>T	ENSP00000330374:p.Leu212Met		149955985	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673637	0.29693	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06218	3.33	4.33	-1.53	0.08611	AIG1 (1);	0.250164	0.31897	N	0.006899	T	0.15609	0.0376	M	0.73430	2.235	0.25655	N	0.986065	P;D	0.67145	0.947;0.996	P;D	0.64410	0.837;0.925	T	0.02893	-1.1097	10	0.66056	D	0.02	.	5.857	0.18724	0.2024:0.4693:0.3284:0.0	.	212;132	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	M	212;273	ENSP00000330374:L212M	ENSP00000330374:L212M	L	-	1	2	GIMAP6	149955985	0.986000	0.35501	0.182000	0.23118	0.005000	0.04900	0.685000	0.25378	-0.148000	0.11234	-0.176000	0.13171	CTG		0.532	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		T	150325052	G	T	150325052	3	4	62	1	0	0	0	0	1	0	0	0	6383	1020	36	3	248	3	GIMAP6	7	150325052	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	6443750	150325052	8813611	68	3150											
C8orf80	389643	genome.wustl.edu	37	8	27887889	27887889	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr8:27887889T>A	ENST00000413272.2	-	16	2097	c.1955A>T	c.(1954-1956)aAg>aTg	p.K652M	NUGGC_ENST00000341513.6_Missense_Mutation_p.K652M	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	652					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K652M(1)									GATCCTCCTCTTCCTTCTGAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	8											47	53	51					8																	27887889		2026	4155	6181	27943808	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1955A>T	8.37:g.27887889T>A	ENSP00000408697:p.Lys652Met		27943808	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664376	0.67700	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.18960	2.19;2.18	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	L	0.34521	1.04	0.43953	D	0.99662	D	0.89917	1.0	D	0.91635	0.999	T	0.07947	-1.0746	10	0.72032	D	0.01	-25.2563	11.2515	0.49028	0.0:0.0:0.0:1.0	.	652	Q68CJ6	SLIP_HUMAN	M	652	ENSP00000408697:K652M;ENSP00000345031:K652M	ENSP00000345031:K652M	K	-	2	0	C8orf80	27943808	1.000000	0.71417	0.962000	0.40283	0.724000	0.41520	2.730000	0.47335	1.963000	0.57068	0.460000	0.39030	AAG		0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		A	27887889	T	A	27887889	3	1	62	1	0	0	0	0	1	0	0	0	2439	1609	56	5	451	5	C8orf80	8	27887889	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09		27887889	118476133	69	3151											
WRN	7486	genome.wustl.edu	37	8	30949409	30949409	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr8:30949409T>G	ENST00000298139.5	+	16	2142	c.1893T>G	c.(1891-1893)atT>atG	p.I631M		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	631	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.I631M(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TAACAGATATTAAATTGTGAG	0.363			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	1	Substitution - Missense(1)	ovary(1)	8											106	100	102					8																	30949409		2203	4300	6503	31068951	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1893T>G	8.37:g.30949409T>G	ENSP00000298139:p.Ile631Met		31068951	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208687	0.39003	.	.	ENSG00000165392	ENST00000298139	T	0.15718	2.4	5.27	2.79	0.32731	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	1.084320	0.07048	N	0.831397	T	0.28466	0.0704	L	0.49350	1.555	0.25999	N	0.982142	B;P	0.45011	0.265;0.848	B;P	0.57371	0.37;0.819	T	0.21008	-1.0258	10	0.36615	T	0.2	-1.7984	5.0824	0.14663	0.1428:0.1416:0.0:0.7156	.	41;631	Q59F09;Q14191	.;WRN_HUMAN	M	631	ENSP00000298139:I631M	ENSP00000298139:I631M	I	+	3	3	WRN	31068951	1.000000	0.71417	0.984000	0.44739	0.103000	0.19146	0.805000	0.27112	1.996000	0.58369	0.533000	0.62120	ATT		0.363	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			G	30949409	T	G	30949409	3	3	62	1	0	0	0	0	1	0	0	0	17402	1742	61	5	1951	5	WRN	8	30949409	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	3061520	30949409	115414613	70	3152											
MAL2	114569	genome.wustl.edu	37	8	120252479	120252479	+	Silent	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr8:120252479G>C	ENST00000276681.6	+	4	480	c.378G>C	c.(376-378)ctG>ctC	p.L126L	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	126	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCACATCCCTGCATGATTTGC	0.398																																																0			8											81	78	79					8																	120252479		1895	4116	6011	120321660	SO:0001819	synonymous_variant	114569			AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.378G>C	8.37:g.120252479G>C			120321660	B2R520|Q6ZMD9	Missense_Mutation	SNP	ENST00000276681.6	37																																																																																					0.398	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		C	120252479	G	C	120252479	2	2	62	1	0	0	0	0	0	0	0	1	9200	1306	46	3		3	MAL2	8	120252479	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	89303070	120252479	26111543	71	3153											
PLEC	5339	genome.wustl.edu	37	8	144994084	144994084	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr8:144994084C>A	ENST00000322810.4	-	32	10485	c.10316G>T	c.(10315-10317)aGg>aTg	p.R3439M	PLEC_ENST00000354589.3_Missense_Mutation_p.R3302M|PLEC_ENST00000354958.2_Missense_Mutation_p.R3280M|PLEC_ENST00000436759.2_Missense_Mutation_p.R3329M|PLEC_ENST00000345136.3_Missense_Mutation_p.R3302M|PLEC_ENST00000356346.3_Missense_Mutation_p.R3288M|PLEC_ENST00000398774.2_Missense_Mutation_p.R3270M|PLEC_ENST00000527096.1_Missense_Mutation_p.R3325M|PLEC_ENST00000357649.2_Missense_Mutation_p.R3306M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3439	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.R3439M(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAAGGACAGCCTCTCCTGCCG	0.627																																																1	Substitution - Missense(1)	ovary(1)	8											47	55	52					8																	144994084		2144	4241	6385	145066072	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10316G>T	8.37:g.144994084C>A	ENSP00000323856:p.Arg3439Met		145066072	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.705	0.693891	0.15039	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78126	-1.12;-1.12;-1.15;-1.15;-1.14;-1.12;-1.12;-1.12;-1.12	4.81	1.74	0.24563	.	0.434585	0.19706	U	0.107923	T	0.72104	0.3419	L	0.43152	1.355	0.20074	N	0.999933	P;P;P;P;P;P;P;P	0.42620	0.785;0.785;0.785;0.679;0.785;0.785;0.785;0.785	B;B;B;B;B;P;B;B	0.44946	0.346;0.346;0.346;0.275;0.346;0.465;0.346;0.346	T	0.64024	-0.6504	10	0.62326	D	0.03	.	9.6699	0.40006	0.0:0.7261:0.0:0.2739	.	3329;3288;3280;3439;3270;3302;3306;3302	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	3302;3306;3302;3270;3439;3280;3288;3329;3325	ENSP00000344848:R3302M;ENSP00000350277:R3306M;ENSP00000346602:R3302M;ENSP00000381756:R3270M;ENSP00000323856:R3439M;ENSP00000347044:R3280M;ENSP00000348702:R3288M;ENSP00000388180:R3329M;ENSP00000434583:R3325M	ENSP00000323856:R3439M	R	-	2	0	PLEC	145066072	0.000000	0.05858	0.839000	0.33178	0.989000	0.77384	0.283000	0.18846	0.470000	0.27294	0.448000	0.29417	AGG		0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144994084	C	A	144994084	3	1	62	1	0	0	0	0	1	0	0	0	12052	681	24	3	3742	3	PLEC	8	144994084	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	24741605	144994084	1369938	72	3154											
ZNF189	7743	genome.wustl.edu	37	9	104170971	104170971	+	Silent	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr9:104170971A>G	ENST00000339664.2	+	3	1050	c.921A>G	c.(919-921)caA>caG	p.Q307Q	ZNF189_ENST00000374861.3_Silent_p.Q293Q|ZNF189_ENST00000259395.4_Silent_p.Q265Q	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	307					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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.Q307Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TTGAGCATCAAAGAATTCACA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	9											116	120	119					9																	104170971		2203	4300	6503	103210792	SO:0001819	synonymous_variant	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.921A>G	9.37:g.104170971A>G			103210792	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Silent	SNP	ENST00000339664.2	37	CCDS6754.1																																																																																				0.398	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		G	104170971	A	G	104170971	2	3	62	1	0	0	0	0	0	0	0	1	17754	11	1	4		4	ZNF189	9	104170971	Silent	SNP	A	TCGA-10-0930-01A-02W-0421-09		104170971	37042460	73	3155											
PALM2	114299	genome.wustl.edu	37	9	112705412	112705412	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr9:112705412A>G	ENST00000374531.2	+	7	921	c.847A>G	c.(847-849)Atg>Gtg	p.M283V	AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.M315V|PALM2_ENST00000448454.2_Missense_Mutation_p.M317V|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.M281V	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	283					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.M283V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CATGATTTTTATGGGCTACCA	0.512																																																1	Substitution - Missense(1)	ovary(1)	9											100	94	96					9																	112705412		2203	4300	6503	111745233	SO:0001583	missense	114299			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.847A>G	9.37:g.112705412A>G	ENSP00000363656:p.Met283Val		111745233	A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.718052	0.30503	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	6.16	6.16	0.99307	.	.	.	.	.	T	0.36026	0.0952	M	0.77486	2.375	0.80722	D	1	B;B	0.25563	0.129;0.053	B;B	0.30251	0.113;0.053	T	0.09930	-1.0652	9	0.40728	T	0.16	.	15.9872	0.80168	1.0:0.0:0.0:0.0	.	283;317	Q8IXS6;D3YTA4	PALM2_HUMAN;.	V	283;317;281;315;315	ENSP00000363656:M283V;ENSP00000400206:M317V;ENSP00000417525:M281V;ENSP00000323805:M315V;ENSP00000397839:M315V	ENSP00000397839:M315V	M	+	1	0	PALM2-AKAP2;PALM2	111745233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.038000	0.70964	2.367000	0.80283	0.528000	0.53228	ATG		0.512	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		G	112705412	A	G	112705412	3	3	62	1	0	0	0	0	1	0	0	0	11409	449	16	4	979	4	PALM2	9	112705412	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	8534441	112705412	28508019	74	3156											
GAPVD1	26130	genome.wustl.edu	37	9	128083728	128083728	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr9:128083728T>G	ENST00000495955.1	+	10	1909	c.1619T>G	c.(1618-1620)cTt>cGt	p.L540R	GAPVD1_ENST00000394104.2_Missense_Mutation_p.L540R|GAPVD1_ENST00000394105.2_Missense_Mutation_p.L540R|GAPVD1_ENST00000394083.2_Missense_Mutation_p.L540R|GAPVD1_ENST00000297933.6_Missense_Mutation_p.L540R|GAPVD1_ENST00000470056.1_Missense_Mutation_p.L540R|GAPVD1_ENST00000265956.4_Missense_Mutation_p.L540R|GAPVD1_ENST00000312123.9_Missense_Mutation_p.L540R			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	540					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.L540R(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AACATGCAGCTTTCGGATGGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	9											125	117	120					9																	128083728		2203	4300	6503	127123549	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1619T>G	9.37:g.128083728T>G	ENSP00000419063:p.Leu540Arg		127123549	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.31|19.31	3.802135|3.802135	0.70682|0.70682	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|T;T;T;T;T;T;T;T;T	.|0.13420	.|2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.181563	.|0.45867	.|D	.|0.000327	T|T	0.18759|0.18759	0.0450|0.0450	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;P;P;P;D	.|0.61080	.|0.948;0.914;0.911;0.95;0.95;0.989	.|P;P;P;P;P;P	.|0.56042	.|0.718;0.526;0.474;0.474;0.474;0.79	T|T	0.02009|0.02009	-1.1230|-1.1230	5|10	.|0.59425	.|D	.|0.04	.|.	14.8313|14.8313	0.70151|0.70151	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|540;540;540;540;540;540	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.;GAPD1_HUMAN;.;.;.;.	V|R	403|540	.|ENSP00000419767:L540R;ENSP00000377665:L540R;ENSP00000377664:L540R;ENSP00000265956:L540R;ENSP00000377645:L540R;ENSP00000419063:L540R;ENSP00000418747:L540R;ENSP00000297933:L540R;ENSP00000309582:L540R	.|ENSP00000265956:L540R	F|L	+|+	1|2	0|0	GAPVD1|GAPVD1	127123549|127123549	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.621000|0.621000	0.37620|0.37620	7.480000|7.480000	0.81109|0.81109	2.104000|2.104000	0.64026|0.64026	0.460000|0.460000	0.39030|0.39030	TTT|CTT		0.373	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			G	128083728	T	G	128083728	3	3	62	1	0	0	0	0	1	0	0	0	6239	1609	56	5	1645	5	GAPVD1	9	128083728	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	15378316	128083728	13129703	75	3157											
RALGDS	5900	genome.wustl.edu	37	9	135985878	135985878	+	Splice_Site	SNP	T	T	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr9:135985878T>C	ENST00000372050.3	-	3	316		c.e3-2		RALGDS_ENST00000393157.3_Splice_Site|RALGDS_ENST00000542690.1_Splice_Site|RALGDS_ENST00000393160.3_Splice_Site|RALGDS_ENST00000469972.1_5'Flank|RALGDS_ENST00000372062.3_Splice_Site|RALGDS_ENST00000372047.3_Splice_Site	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)	p.?(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ATTCTCATACTGGGGTGGGAC	0.602			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	1	Unknown(1)	ovary(1)	9											47	42	44					9																	135985878		2202	4300	6502	134975699	SO:0001630	splice_region_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.295-2A>G	9.37:g.135985878T>C			134975699	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Splice_Site	SNP	ENST00000372050.3	37	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.400556	0.42613	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	.	.	.	4.95	2.51	0.30379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4702	0.27344	0.347:0.0:0.0:0.653	.	.	.	.	.	-1	.	.	.	-	.	.	RALGDS	134975699	1.000000	0.71417	0.350000	0.25708	0.844000	0.47949	6.262000	0.72514	0.323000	0.23307	0.533000	0.62120	.		0.602	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266	Intron	C	135985878	T	C	135985878	5	2	62	1	0	0	0	0	0	0	1	0	13019	1594	55	4	2515	4	RALGDS	9	135985878	Splice_Site	SNP	T	TCGA-10-0930-01A-02W-0421-09	7902150	135985878	5227553	76	3158											
NSUN6	221078	genome.wustl.edu	37	10	18940060	18940060	+	Nonsense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr10:18940060C>A	ENST00000377304.4	-	1	491	c.73G>T	c.(73-75)Gag>Tag	p.E25*	RP11-139J15.7_ENST00000606425.1_Intron	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	25							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.E25*(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGACCTACCTCCTTATTCATA	0.343																																																1	Substitution - Nonsense(1)	ovary(1)	10											109	110	110					10																	18940060		2202	4300	6502	18980066	SO:0001587	stop_gained	221078			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.73G>T	10.37:g.18940060C>A	ENSP00000366519:p.Glu25*		18980066	B0YJ54	Nonsense_Mutation	SNP	ENST00000377304.4	37	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	C	36	5.648582	0.96714	.	.	ENSG00000241058	ENST00000377304	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	17.5868	0.87983	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000366519:E25X	E	-	1	0	NSUN6	18980066	1.000000	0.71417	0.981000	0.43875	0.183000	0.23260	5.419000	0.66435	2.577000	0.86979	0.655000	0.94253	GAG		0.343	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		A	18940060	C	A	18940060	4	1	62	1	0	0	0	0	0	1	0	0	10682	864	30	3	1380	3	NSUN6	10	18940060	Nonsense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09		18940060	116594687	77	3159											
LDB3	11155	genome.wustl.edu	37	10	88451686	88451686	+	Silent	SNP	C	C	T	rs200580597		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr10:88451686C>T	ENST00000361373.4	+	5	744	c.723C>T	c.(721-723)agC>agT	p.S241S	LDB3_ENST00000372056.4_Silent_p.S309S|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000429277.2_Silent_p.S309S|LDB3_ENST00000263066.6_Silent_p.S194S|LDB3_ENST00000372066.3_Silent_p.S194S|LDB3_ENST00000458213.2_Silent_p.S194S|LDB3_ENST00000310944.6_Silent_p.S241S	NM_007078.2	NP_009009.1			LIM domain binding 3									p.S241S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCGTAGACAGCGCCTCTCCCG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	10						C	,,,,,	0,4406		0,0,2203	135	125	129		582,723,582,927,927,723	-2.8	0.9	10		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LDB3	NM_001080114.1,NM_001080115.1,NM_001080116.1,NM_001171610.1,NM_001171611.1,NM_007078.2	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	194/618,241/331,194/284,309/733,309/399,241/728	88451686	1,13005	2203	4300	6503	88441666	SO:0001819	synonymous_variant	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.723C>T	10.37:g.88451686C>T			88441666		Silent	SNP	ENST00000361373.4	37	CCDS7377.1																																																																																				0.612	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			T	88451686	C	T	88451686	2	4	62	1	0	0	0	0	0	0	0	1	8697	767	27	1		1	LDB3	10	88451686	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	69511626	88451686	47083061	78	3160											
PTEN	5728	genome.wustl.edu	37	10	89711905	89711905	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr10:89711905G>T	ENST00000371953.3	+	6	1880	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	175	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.V175L(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAGGCGCTATGTGTATTATTA	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	57	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)|Substitution - Missense(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10											135	138	137					10																	89711905		2203	4300	6503	89701885	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.523G>T	10.37:g.89711905G>T	ENSP00000361021:p.Val175Leu		89701885	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387647	0.95988	.	.	ENSG00000171862	ENST00000371953	D	0.97114	-4.25	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	L	0.49571	1.57	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.97400	0.9995	9	.	.	.	-2.4965	19.9308	0.97118	0.0:0.0:1.0:0.0	.	175	P60484	PTEN_HUMAN	L	175	ENSP00000361021:V175L	.	V	+	1	0	PTEN	89701885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	GTG		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89711905	G	T	89711905	3	4	62	1	0	0	0	0	1	0	0	0	12741	1377	48	3	545	3	PTEN	10	89711905	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	1260219	89711905	45822842	79	3161											
CYP2C9	1559	genome.wustl.edu	37	10	96731980	96731980	+	Silent	SNP	G	G	A	rs375193036		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr10:96731980G>A	ENST00000260682.6	+	6	951	c.939G>A	c.(937-939)ctG>ctA	p.L313L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	313					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.L313L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCCTTCTCCTGCTGAAGCACC	0.428																																					Ovarian(54;1266 1406 16072 35076)											1	Substitution - coding silent(1)	ovary(1)	10											161	150	154					10																	96731980		2203	4300	6503	96721970	SO:0001819	synonymous_variant	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.939G>A	10.37:g.96731980G>A			96721970	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	CCDS7437.1																																																																																				0.428	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		A	96731980	G	A	96731980	2	1	62	1	0	0	0	0	0	0	0	1	4168	1306	46	2		2	CYP2C9	10	96731980	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	7020075	96731980	38802767	80	3162											
SLIT1	6585	genome.wustl.edu	37	10	98824632	98824632	+	Splice_Site	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr10:98824632G>C	ENST00000266058.4	-	6	732	c.487C>G	c.(487-489)Cag>Gag	p.Q163E	SLIT1_ENST00000371041.3_Splice_Site_p.Q163E|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Splice_Site_p.Q163E	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	163				Q -> R (in Ref. 1; BAA35184). {ECO:0000305}.	axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.Q163E(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGTCCAGCTGTCTGTGAAGC	0.527																																																1	Substitution - Missense(1)	ovary(1)	10											154	136	142					10																	98824632		2203	4300	6503	98814622	SO:0001630	splice_region_variant	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.486-1C>G	10.37:g.98824632G>C			98814622	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943654	0.92593	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.57752	0.38;0.38;1.89;0.38	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	N	0.16066	0.365	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.67231	0.95;0.9	T	0.65578	-0.6134	10	0.87932	D	0	.	18.1864	0.89795	0.0:0.0:1.0:0.0	.	163;163	E7EWQ8;O75093	.;SLIT1_HUMAN	E	163;163;139;163;146;139;163	ENSP00000266058:Q163E;ENSP00000360109:Q163E;ENSP00000315005:Q146E;ENSP00000360080:Q163E	ENSP00000266058:Q163E	Q	-	1	0	SLIT1	98814622	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.657000	0.98554	2.537000	0.85549	0.491000	0.48974	CAG		0.527	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	Missense_Mutation	C	98824632	G	C	98824632	5	2	62	1	0	0	0	0	0	0	1	0	14742	1391	48	3	4245	3	SLIT1	10	98824632	Splice_Site	SNP	G	TCGA-10-0930-01A-02W-0421-09	2092652	98824632	36710115	81	3163											
LZTS2	84445	genome.wustl.edu	37	10	102763681	102763683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	TCC	TCC	TCC	-	TCC	TCC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr10:102763681_102763683delTCC	ENST00000370220.1	+	2	3889_3891	c.826_828delTCC	c.(826-828)tccdel	p.S279del	LZTS2_ENST00000370223.3_In_Frame_Del_p.S279del					leucine zipper, putative tumor suppressor 2									p.S139del(1)|p.S276del(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGTGGCCGGTCCTCCTCCAGCA	0.709																																					Esophageal Squamous(8;38 437 13604 19902 37640)											2	Deletion - In frame(2)	ovary(2)	10								0,4240		0,0,2120						-10	0.3			29	4,8236		1,2,4117	no	coding	LZTS2	NM_032429.2		1,2,6237	A1A1,A1R,RR		0.0485,0.0,0.0321				4,12476				102753673	SO:0001651	inframe_deletion	84445			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.826_828delTCC	10.37:g.102763687_102763689delTCC	ENSP00000359240:p.Ser279del		102753671		In_Frame_Del	DEL	ENST00000370220.1	37	CCDS7507.1																																																																																				0.709	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		-	102763683	TCC	-	102763681	7	5	62	1	0	1	0	1	0	0	0	0	9139	1667	58	0	832	0	LZTS2	10	102763681	In_Frame_Del	DEL	TCC	TCGA-10-0930-01A-02W-0421-09	3939049	102763681	32771066	82	3164											
TAF5	6877	genome.wustl.edu	37	10	105143003	105143003	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr10:105143003C>G	ENST00000369839.3	+	7	1566	c.1543C>G	c.(1543-1545)Ctt>Gtt	p.L515V	TAF5_ENST00000351396.4_Missense_Mutation_p.L515V	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	515					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L515V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGATCTTAGTCTTATAGACAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	10											51	51	51					10																	105143003		2203	4300	6503	105132993	SO:0001583	missense	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1543C>G	10.37:g.105143003C>G	ENSP00000358854:p.Leu515Val		105132993	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379539	0.24944	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;D	0.82255	0.59;-1.59	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.127949	0.53938	D	0.000049	T	0.74481	0.3722	L	0.29908	0.895	0.54753	D	0.999984	B;B	0.28291	0.206;0.146	B;B	0.24269	0.052;0.023	T	0.71810	-0.4480	10	0.41790	T	0.15	-8.6212	14.6161	0.68549	0.1457:0.8543:0.0:0.0	.	515;515	Q15542-2;Q15542	.;TAF5_HUMAN	V	515	ENSP00000358854:L515V;ENSP00000311024:L515V	ENSP00000311024:L515V	L	+	1	0	TAF5	105132993	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	2.267000	0.43329	2.683000	0.91414	0.555000	0.69702	CTT		0.333	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			G	105143003	C	G	105143003	3	3	62	1	0	0	0	0	1	0	0	0	15528	913	32	3	1569	3	TAF5	10	105143003	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	2379322	105143003	30391744	83	3165											
CALHM1	255022	genome.wustl.edu	37	10	105218165	105218165	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr10:105218165A>C	ENST00000329905.5	-	1	480	c.344T>G	c.(343-345)gTg>gGg	p.V115G	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	115					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)	p.V115G(1)		large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CGTGACGGCCACCCAGACGAC	0.687																																																1	Substitution - Missense(1)	ovary(1)	10											30	28	29					10																	105218165		2202	4298	6500	105208155	SO:0001583	missense	255022			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.344T>G	10.37:g.105218165A>C	ENSP00000329926:p.Val115Gly		105208155	Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466762	0.84425	.	.	ENSG00000185933	ENST00000329905	T	0.20200	2.09	5.52	5.52	0.82312	.	0.132065	0.52532	D	0.000072	T	0.34716	0.0907	L	0.44542	1.39	0.80722	D	1	D	0.57257	0.979	P	0.58454	0.839	T	0.06373	-1.0830	10	0.87932	D	0	-41.1267	14.816	0.70034	1.0:0.0:0.0:0.0	.	115	Q8IU99	CAHM1_HUMAN	G	115	ENSP00000329926:V115G	ENSP00000329926:V115G	V	-	2	0	CALHM1	105208155	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	8.731000	0.91529	2.104000	0.64026	0.402000	0.26972	GTG		0.687	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		C	105218165	A	C	105218165	3	2	62	1	0	0	0	0	1	0	0	0	2582	159	6	5	704	5	CALHM1	10	105218165	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	75162	105218165	30316582	84	3166											
CREB3L1	90993	genome.wustl.edu	37	11	46337937	46337937	+	Splice_Site	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr11:46337937G>T	ENST00000529193.1	+	9	1582		c.e9+1		CREB3L1_ENST00000534616.1_Intron|CREB3L1_ENST00000288400.3_Splice_Site			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1						regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.?(1)	FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CTGCCTCATGGTAGGTGTGGC	0.567			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	1	Unknown(1)	ovary(1)	11											21	23	22					11																	46337937		2010	4159	6169	46294513	SO:0001630	splice_region_variant	90993				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1131+1G>T	11.37:g.46337937G>T			46294513	Q8N2D5|Q96CP0	Splice_Site	SNP	ENST00000529193.1	37	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641389	0.87859	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CREB3L1	46294513	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.515000	0.98015	2.746000	0.94184	0.655000	0.94253	.		0.567	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854	Intron	T	46337937	G	T	46337937	5	4	62	1	0	0	0	0	0	0	1	0	3856	1275	44	3	1166	3	CREB3L1	11	46337937	Splice_Site	SNP	G	TCGA-10-0930-01A-02W-0421-09		46337937	88668579	85	3167											
PSMC3	5702	genome.wustl.edu	37	11	47444497	47444497	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr11:47444497T>G	ENST00000298852.3	-	7	776	c.619A>C	c.(619-621)Aac>Cac	p.N207H	PSMC3_ENST00000530912.1_Missense_Mutation_p.N165H|PSMC3_ENST00000602866.1_Missense_Mutation_p.N191H	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.N207H(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCCTTGTGGTTCATTGGCAAG	0.592																																																1	Substitution - Missense(1)	ovary(1)	11											103	104	104					11																	47444497		2201	4298	6499	47401073	SO:0001583	missense	5702			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.619A>C	11.37:g.47444497T>G	ENSP00000298852:p.Asn207His		47401073	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533111	0.85812	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906	D;D	0.94793	-3.52;-3.52	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.91348	0.7271	N	0.16743	0.435	0.80722	D	1	P;P	0.47409	0.823;0.895	P;P	0.47430	0.497;0.547	D	0.92970	0.6397	10	0.87932	D	0	-39.0895	15.1702	0.72865	0.0:0.0:0.0:1.0	.	165;207	E9PM69;P17980	.;PRS6A_HUMAN	H	207;165;151;151;172;172;172	ENSP00000298852:N207H;ENSP00000433097:N165H	ENSP00000298852:N207H	N	-	1	0	PSMC3	47401073	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.040000	0.89188	1.981000	0.57761	0.533000	0.62120	AAC		0.592	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		G	47444497	T	G	47444497	3	3	62	1	0	0	0	0	1	0	0	0	12690	1783	62	5	724	5	PSMC3	11	47444497	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	1106560	47444497	87562019	86	3168											
OR4C46	119749	genome.wustl.edu	37	11	51515862	51515862	+	Missense_Mutation	SNP	A	A	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr11:51515862A>T	ENST00000328188.1	+	1	581	c.581A>T	c.(580-582)gAa>gTa	p.E194V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E194V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CATATGCTGGAACTCTTCATT	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											139	122	128					11																	51515862		2201	4296	6497	51372438	SO:0001583	missense	119749				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.581A>T	11.37:g.51515862A>T	ENSP00000329056:p.Glu194Val		51372438		Missense_Mutation	SNP	ENST00000328188.1	37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	1.856	-0.463731	0.04476	.	.	ENSG00000185926	ENST00000328188	T	0.00258	8.41	2.47	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000285	T	0.00144	0.0004	L	0.33792	1.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42832	-0.9428	10	0.72032	D	0.01	.	5.2022	0.15271	0.4432:0.0:0.5568:0.0	.	194	A6NHA9	O4C46_HUMAN	V	194	ENSP00000329056:E194V	ENSP00000329056:E194V	E	+	2	0	OR4C46	51372438	0.257000	0.24022	0.001000	0.08648	0.006000	0.05464	0.922000	0.28734	0.013000	0.14918	-1.730000	0.00700	GAA		0.463	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		T	51515862	A	T	51515862	3	4	62	1	0	0	0	0	1	0	0	0	11051	246	9	5	583	5	OR4C46	11	51515862	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	4071365	51515862	83490654	87	3169											
OR5D16	390144	genome.wustl.edu	37	11	55606330	55606330	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr11:55606330G>C	ENST00000378396.1	+	1	103	c.103G>C	c.(103-105)Gca>Cca	p.A35P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A35P(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGTATTTCTGGCAGTCTACGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	11											127	120	122					11																	55606330		2201	4296	6497	55362906	SO:0001583	missense	390144			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.103G>C	11.37:g.55606330G>C	ENSP00000367649:p.Ala35Pro		55362906	Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.981043	0.34942	.	.	ENSG00000205029	ENST00000378396	T	0.00450	7.36	4.15	-0.707	0.11245	.	.	.	.	.	T	0.00552	0.0018	L	0.48877	1.53	0.09310	N	1	D	0.53885	0.963	P	0.61800	0.894	T	0.53236	-0.8467	9	0.52906	T	0.07	-2.1247	3.8684	0.09025	0.0844:0.2391:0.448:0.2285	.	35	Q8NGK9	OR5DG_HUMAN	P	35	ENSP00000367649:A35P	ENSP00000367649:A35P	A	+	1	0	OR5D16	55362906	0.000000	0.05858	0.001000	0.08648	0.827000	0.46813	-4.587000	0.00212	0.021000	0.15133	0.530000	0.56133	GCA		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		C	55606330	G	C	55606330	3	2	62	1	0	0	0	0	1	0	0	0	11156	1203	42	3	105	3	OR5D16	11	55606330	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	4090468	55606330	79400186	88	3170											
PGA3	643834	genome.wustl.edu	37	11	60971723	60971723	+	Silent	SNP	C	C	A	rs527696591	byFrequency	TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr11:60971723C>A	ENST00000325558.6	+	2	386	c.201C>A	c.(199-201)ccC>ccA	p.P67P		NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	67					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.P67P(1)		endometrium(1)|lung(1)|ovary(1)|skin(2)	5						ATGAACAGCCCCTGGAGAACT	0.602													C|||	4	0.000798722	0.003	0	5008	,	,		20048	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	11											64	72	69					11																	60971723		1901	3872	5773	60728299	SO:0001819	synonymous_variant	643834			AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.201C>A	11.37:g.60971723C>A			60728299	A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	Silent	SNP	ENST00000325558.6	37	CCDS31574.1																																																																																				0.602	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397955.2	NM_001079807		A	60971723	C	A	60971723	2	1	62	1	0	0	0	0	0	0	0	1	11771	610	22	3		3	PGA3	11	60971723	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	5365393	60971723	74034793	89	3171											
SLC22A11	55867	genome.wustl.edu	37	11	64323798	64323798	+	Silent	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr11:64323798C>T	ENST00000301891.4	+	1	701	c.327C>T	c.(325-327)gaC>gaT	p.D109D	SLC22A11_ENST00000377581.3_Silent_p.D109D|SLC22A11_ENST00000377585.3_Silent_p.D109D|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	109					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.D109D(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GCGAAGCTGACACGGAGCCGT	0.682																																																1	Substitution - coding silent(1)	ovary(1)	11											46	51	49					11																	64323798		2201	4297	6498	64080374	SO:0001819	synonymous_variant	55867			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.327C>T	11.37:g.64323798C>T			64080374	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	CCDS8074.1																																																																																				0.682	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		T	64323798	C	T	64323798	2	4	62	1	0	0	0	0	0	0	0	1	14445	477	17	2		2	SLC22A11	11	64323798	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	3352075	64323798	70682718	90	3172											
DHCR7	1717	genome.wustl.edu	37	11	71153317	71153317	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr11:71153317G>A	ENST00000355527.3	-	5	680	c.404C>T	c.(403-405)aCt>aTt	p.T135I	DHCR7_ENST00000407721.2_Missense_Mutation_p.T135I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	135					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.T135I(1)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						ACCTGCAGGAGTCACGGCCCC	0.597									Smith-Lemli-Opitz syndrome																																							1	Substitution - Missense(1)	ovary(1)	11											70	68	69					11																	71153317		2200	4294	6494	70830965	SO:0001583	missense	1717	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.404C>T	11.37:g.71153317G>A	ENSP00000347717:p.Thr135Ile		70830965	B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650474	0.47362	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316;ENST00000526780	D;D;D;D	0.98192	-4.5;-4.5;-4.5;-4.78	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98750	1.0720	10	0.48119	T	0.1	-21.3587	13.7437	0.62862	0.0:0.0:1.0:0.0	.	135	Q9UBM7	DHCR7_HUMAN	I	135;135;147;103;135	ENSP00000384739:T135I;ENSP00000347717:T135I;ENSP00000435047:T103I;ENSP00000435668:T135I	ENSP00000347717:T135I	T	-	2	0	DHCR7	70830965	1.000000	0.71417	0.229000	0.23960	0.110000	0.19582	7.887000	0.87295	1.872000	0.54250	0.448000	0.29417	ACT		0.597	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		A	71153317	G	A	71153317	3	1	62	1	0	0	0	0	1	0	0	0	4477	1029	36	2	1043	2	DHCR7	11	71153317	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	6829519	71153317	63853199	91	3173											
FOLR1	2348	genome.wustl.edu	37	11	71907018	71907018	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr11:71907018G>A	ENST00000393679.1	+	5	1007	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	FOLR1_ENST00000393676.3_Missense_Mutation_p.E191K|FOLR1_ENST00000393681.2_Missense_Mutation_p.E191K|FOLR1_ENST00000312293.4_Missense_Mutation_p.E191K|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	191					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)	p.E191K(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	TCTGTGCAATGAAATCTGGAC	0.552																																																1	Substitution - Missense(1)	ovary(1)	11											101	94	96					11																	71907018		2200	4293	6493	71584666	SO:0001583	missense	2348			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.571G>A	11.37:g.71907018G>A	ENSP00000377284:p.Glu191Lys		71584666	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	0.948	-0.707191	0.03230	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.11	-0.108	0.13588	Folate receptor-like (1);	0.544875	0.20145	N	0.098295	T	0.48390	0.1497	N	0.12527	0.23	0.28755	N	0.901239	B	0.06786	0.001	B	0.14023	0.01	T	0.38993	-0.9635	10	0.02654	T	1	-29.4964	3.711	0.08420	0.4091:0.188:0.4029:0.0	.	191	P15328	FOLR1_HUMAN	K	191	ENSP00000308137:E191K;ENSP00000377286:E191K;ENSP00000377284:E191K;ENSP00000377281:E191K	ENSP00000308137:E191K	E	+	1	0	FOLR1	71584666	0.252000	0.23972	0.785000	0.31869	0.479000	0.33129	0.181000	0.16880	0.098000	0.17522	0.563000	0.77884	GAA		0.552	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		A	71907018	G	A	71907018	3	1	62	1	0	0	0	0	1	0	0	0	5981	1291	45	2	585	2	FOLR1	11	71907018	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	753701	71907018	63099498	92	3174											
MMP8	4317	genome.wustl.edu	37	11	102587060	102587060	+	Missense_Mutation	SNP	C	C	A	rs559647290		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr11:102587060C>A	ENST00000236826.3	-	6	973	c.875G>T	c.(874-876)cGt>cTt	p.R292L		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	292					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.R292L(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TATTTCTCCACGGAGTGTGGT	0.383																																																1	Substitution - Missense(1)	ovary(1)	11											113	118	116					11																	102587060		2203	4299	6502	102092270	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.875G>T	11.37:g.102587060C>A	ENSP00000236826:p.Arg292Leu		102092270	Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678442	0.88542	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942	T	0.16897	2.31	5.03	5.03	0.67393	Hemopexin/matrixin (2);	0.000000	0.51477	D	0.000082	T	0.49795	0.1578	M	0.90019	3.08	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.996	T	0.60611	-0.7229	10	0.87932	D	0	.	15.2723	0.73712	0.0:1.0:0.0:0.0	.	292;227;292	A8K9E4;F5GXB5;P22894	.;.;MMP8_HUMAN	L	292;269;227	ENSP00000236826:R292L	ENSP00000236826:R292L	R	-	2	0	MMP8	102092270	0.998000	0.40836	0.963000	0.40424	0.990000	0.78478	5.347000	0.65998	2.326000	0.78906	0.563000	0.77884	CGT		0.383	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		A	102587060	C	A	102587060	3	1	62	1	0	0	0	0	1	0	0	0	9668	536	19	3	548	3	MMP8	11	102587060	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	30680042	102587060	32419456	93	3175											
ATN1	1822	genome.wustl.edu	37	12	7048338	7048338	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:7048338C>T	ENST00000356654.4	+	7	3449	c.3212C>T	c.(3211-3213)gCa>gTa	p.A1071V	ATN1_ENST00000396684.2_Missense_Mutation_p.A1071V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1071					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.A1071V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCTATCCATGCAGGTGAGACC	0.597																																																1	Substitution - Missense(1)	ovary(1)	12											65	42	50					12																	7048338		2178	4240	6418	6918599	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3212C>T	12.37:g.7048338C>T	ENSP00000349076:p.Ala1071Val		6918599	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826263	0.71143	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.50813	0.73;0.73;0.73	4.71	4.71	0.59529	.	0.241555	0.21167	N	0.079043	T	0.45478	0.1344	N	0.12182	0.205	0.46416	D	0.999032	P	0.50066	0.931	P	0.53649	0.731	T	0.50303	-0.8844	10	0.46703	T	0.11	.	18.2266	0.89918	0.0:1.0:0.0:0.0	.	1071	P54259	ATN1_HUMAN	V	1071;1071;1071;656	ENSP00000349076:A1071V;ENSP00000379915:A1071V;ENSP00000441744:A1071V	ENSP00000229279:A656V	A	+	2	0	ATN1	6918599	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.956000	0.56722	2.615000	0.88500	0.555000	0.69702	GCA		0.597	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		T	7048338	C	T	7048338	3	4	62	1	0	0	0	0	1	0	0	0	1111	710	25	2	3234	2	ATN1	12	7048338	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09		7048338	126803557	94	3176											
STK38L	23012	genome.wustl.edu	37	12	27462047	27462047	+	Splice_Site	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:27462047G>C	ENST00000389032.3	+	5	479	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	STK38L_ENST00000539577.1_Splice_Site_p.V11L	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like									p.V104L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TATCTTTTAGGTGCGGTTGGT	0.343																																																1	Substitution - Missense(1)	ovary(1)	12											77	77	77					12																	27462047		2203	4300	6503	27353314	SO:0001630	splice_region_variant	23012			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.310-1G>C	12.37:g.27462047G>C			27353314		Missense_Mutation	SNP	ENST00000389032.3	37	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698302	0.88830	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000545470;ENST00000539577;ENST00000543246;ENST00000544969	T;T;T;T;T;T	0.60797	1.5;1.5;0.16;0.16;1.5;1.5	4.63	4.63	0.57726	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	D	0.83631	0.5296	H	0.98276	4.19	0.80722	D	1	P;D	0.55385	0.868;0.971	P;P	0.58577	0.619;0.841	D	0.90927	0.4787	9	.	.	.	.	17.8745	0.88821	0.0:0.0:1.0:0.0	.	11;104	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	L	104;104;63;11;104;104	ENSP00000437856:V104L;ENSP00000373684:V104L;ENSP00000439457:V63L;ENSP00000446386:V11L;ENSP00000442253:V104L;ENSP00000440279:V104L	.	V	+	1	0	STK38L	27353314	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.792000	0.99085	2.293000	0.77203	0.467000	0.42956	GTG		0.343	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000	Missense_Mutation	C	27462047	G	C	27462047	5	2	62	1	0	0	0	0	0	0	1	0	15306	1275	44	3	324	3	STK38L	12	27462047	Splice_Site	SNP	G	TCGA-10-0930-01A-02W-0421-09	20413709	27462047	106389848	95	3177											
HNRNPA1	3178	genome.wustl.edu	37	12	54675236	54675236	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:54675236G>A	ENST00000340913.6	+	2	135	c.82G>A	c.(82-84)Gag>Aag	p.E28K	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E28K|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.E28K|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E28K|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	28	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)	p.E28K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AACAACTGATGAGAGCCTGAG	0.502																																					Colon(83;502 1289 8436 16406 24870)											1	Substitution - Missense(1)	ovary(1)	12											51	54	53					12																	54675236		2082	4246	6328	52961503	SO:0001583	missense	3178			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.82G>A	12.37:g.54675236G>A	ENSP00000341826:p.Glu28Lys		52961503	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185953	0.78789	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688	D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.56097	D	0.000035	D	0.89787	0.6816	L	0.46741	1.465	0.58432	D	0.999998	P;P;P;B;P;P	0.50617	0.751;0.937;0.753;0.006;0.937;0.89	P;P;B;B;P;P	0.52758	0.586;0.708;0.256;0.044;0.708;0.671	D	0.91003	0.4844	10	0.72032	D	0.01	.	15.3753	0.74598	0.0:0.0:1.0:0.0	.	28;28;28;28;28;28	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	K	28;28;28;28;28;28;28;28;28;28;47	ENSP00000448617:E28K;ENSP00000448229:E28K;ENSP00000341826:E28K;ENSP00000333504:E28K;ENSP00000448117:E28K;ENSP00000447260:E28K;ENSP00000447782:E47K	ENSP00000333504:E28K	E	+	1	0	HNRNPA1	52961503	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.752000	0.98900	2.407000	0.81776	0.491000	0.48974	GAG		0.502	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		A	54675236	G	A	54675236	3	1	62	1	0	0	0	0	1	0	0	0	7257	1291	45	2	88	2	HNRNPA1	12	54675236	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	27213189	54675236	79176659	96	3178											
NCKAP1L	3071	genome.wustl.edu	37	12	54930003	54930003	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:54930003C>G	ENST00000293373.6	+	28	3126	c.3047C>G	c.(3046-3048)tCt>tGt	p.S1016C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S966C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1016					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.S1016C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACTGACCCTTCTTCCTTTTAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	12											132	107	115					12																	54930003		2203	4300	6503	53216270	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3047C>G	12.37:g.54930003C>G	ENSP00000293373:p.Ser1016Cys		53216270	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765421	0.31228	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.31769	1.48;1.48	4.16	4.16	0.48862	.	0.388995	0.27668	N	0.018350	T	0.30039	0.0752	N	0.24115	0.695	0.26665	N	0.971848	P	0.50710	0.938	P	0.54372	0.75	T	0.05989	-1.0852	10	0.66056	D	0.02	-5.8653	8.0287	0.30453	0.0:0.89:0.0:0.11	.	1016	P55160	NCKPL_HUMAN	C	1016;966	ENSP00000293373:S1016C;ENSP00000445596:S966C	ENSP00000293373:S1016C	S	+	2	0	NCKAP1L	53216270	0.044000	0.20184	0.827000	0.32855	0.226000	0.24999	0.490000	0.22403	2.336000	0.79503	0.655000	0.94253	TCT		0.483	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		G	54930003	C	G	54930003	3	3	62	1	0	0	0	0	1	0	0	0	10222	913	32	3	3157	3	NCKAP1L	12	54930003	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	254767	54930003	78921892	97	3179											
PPFIA2	8499	genome.wustl.edu	37	12	81747071	81747071	+	Silent	SNP	T	T	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:81747071T>A	ENST00000549396.1	-	17	1981	c.1821A>T	c.(1819-1821)ggA>ggT	p.G607G	PPFIA2_ENST00000549325.1_Silent_p.G589G|PPFIA2_ENST00000548586.1_Silent_p.G607G|PPFIA2_ENST00000550359.2_Silent_p.G454G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Silent_p.G607G|PPFIA2_ENST00000333447.7_Silent_p.G589G|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000407050.4_Silent_p.G533G|PPFIA2_ENST00000550584.2_Silent_p.G607G|PPFIA2_ENST00000541570.2_Silent_p.G174G|PPFIA2_ENST00000443686.3_Silent_p.G508G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	607					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.G607G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCTTAGTACTCCAATCTGTT	0.363																																																1	Substitution - coding silent(1)	ovary(1)	12											137	131	133					12																	81747071		1889	4124	6013	80271202	SO:0001819	synonymous_variant	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1821A>T	12.37:g.81747071T>A			80271202	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	CCDS55857.1																																																																																				0.363	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			A	81747071	T	A	81747071	2	1	62	1	0	0	0	0	0	0	0	1	12310	1538	54	5		5	PPFIA2	12	81747071	Silent	SNP	T	TCGA-10-0930-01A-02W-0421-09	26817068	81747071	52104824	98	3180											
CEP290	80184	genome.wustl.edu	37	12	88454656	88454656	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:88454656A>G	ENST00000552810.1	-	47	6816	c.6473T>C	c.(6472-6474)tTg>tCg	p.L2158S	CEP290_ENST00000547691.2_Missense_Mutation_p.L1218S|CEP290_ENST00000309041.7_Missense_Mutation_p.L2160S|CEP290_ENST00000397838.3_Missense_Mutation_p.L1218S	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2158					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.L2160S(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCACTAGTCAATATTCCTGA	0.289																																																1	Substitution - Missense(1)	ovary(1)	12											87	70	75					12																	88454656		1776	4045	5821	86978787	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.6473T>C	12.37:g.88454656A>G	ENSP00000448012:p.Leu2158Ser		86978787	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669278	0.47677	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.65364	0.43;-0.15;-0.15;0.43	6.03	6.03	0.97812	.	0.382752	0.25968	N	0.027151	T	0.51024	0.1650	L	0.44542	1.39	0.28085	N	0.932025	P	0.43352	0.804	B	0.36464	0.225	T	0.51671	-0.8676	10	0.09084	T	0.74	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	2158	O15078	CE290_HUMAN	S	1218;2158;2160;1218	ENSP00000446905:L1218S;ENSP00000448012:L2158S;ENSP00000308021:L2160S;ENSP00000380938:L1218S	ENSP00000308021:L2160S	L	-	2	0	CEP290	86978787	0.937000	0.31787	0.998000	0.56505	0.995000	0.86356	3.390000	0.52523	2.308000	0.77769	0.533000	0.62120	TTG		0.289	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		G	88454656	A	G	88454656	3	3	62	1	0	0	0	0	1	0	0	0	3253	131	5	4	998	4	CEP290	12	88454656	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	6707585	88454656	45397239	99	3181											
ACACB	32	genome.wustl.edu	37	12	109654455	109654455	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:109654455C>G	ENST00000338432.7	+	23	3502	c.3383C>G	c.(3382-3384)aCa>aGa	p.T1128R	ACACB_ENST00000377848.3_Missense_Mutation_p.T1128R|ACACB_ENST00000377854.5_Intron			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1128					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.T1128R(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TATATGAAAACAGTGGTGTTG	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											102	99	100					12																	109654455		2203	4300	6503	108138838	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3383C>G	12.37:g.109654455C>G	ENSP00000341044:p.Thr1128Arg		108138838	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883967	0.33255	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000390027	T;T	0.40756	1.02;1.02	5.33	3.51	0.40186	Acetyl-CoA carboxylase, central domain (1);	0.453783	0.24686	N	0.036440	T	0.34279	0.0892	N	0.19112	0.55	0.80722	D	1	B	0.29671	0.254	B	0.41236	0.351	T	0.07770	-1.0755	10	0.21540	T	0.41	.	12.4332	0.55584	0.0:0.8627:0.0:0.1373	.	1128	O00763	ACACB_HUMAN	R	1128;1128;359	ENSP00000341044:T1128R;ENSP00000367079:T1128R	ENSP00000341044:T1128R	T	+	2	0	ACACB	108138838	0.322000	0.24634	0.003000	0.11579	0.881000	0.50899	4.554000	0.60760	0.758000	0.33059	0.650000	0.86243	ACA		0.502	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		G	109654455	C	G	109654455	3	3	62	1	0	0	0	0	1	0	0	0	107	478	17	3	3469	3	ACACB	12	109654455	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	21199799	109654455	24197440	100	3182											
SH2B3	10019	genome.wustl.edu	37	12	111885191	111885191	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:111885191C>G	ENST00000341259.2	+	6	1436	c.1079C>G	c.(1078-1080)tCc>tGc	p.S360C	SH2B3_ENST00000538307.1_Missense_Mutation_p.S158C	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	360					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)	p.S360C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	CATTTCCTGTCCTGCTACCCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											74	78	77					12																	111885191		2203	4300	6503	110369574	SO:0001583	missense	10019			AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	29605	protein-coding gene	gene with protein product	"lymphocyte adaptor protein"	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1079C>G	12.37:g.111885191C>G	ENSP00000345492:p.Ser360Cys		110369574	B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823444	0.71143	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.64260	-0.09;-0.09	5.0	5.0	0.66597	SH2 motif (1);	0.103470	0.64402	D	0.000002	T	0.77232	0.4100	M	0.66939	2.045	0.47476	D	0.999436	D;D;D	0.76494	0.999;0.997;0.999	D;P;D	0.65010	0.931;0.854;0.931	T	0.80086	-0.1529	10	0.87932	D	0	-16.7114	18.6561	0.91455	0.0:1.0:0.0:0.0	.	158;224;360	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	C	360;170;158	ENSP00000345492:S360C;ENSP00000440597:S158C	ENSP00000345492:S360C	S	+	2	0	SH2B3	110369574	0.994000	0.37717	1.000000	0.80357	0.983000	0.72400	2.310000	0.43708	2.482000	0.83794	0.462000	0.41574	TCC		0.612	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		G	111885191	C	G	111885191	3	3	62	1	0	0	0	0	1	0	0	0	14232	855	30	3	1097	3	SH2B3	12	111885191	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	2230736	111885191	21966704	101	3183											
KNTC1	9735	genome.wustl.edu	37	12	123052819	123052819	+	Missense_Mutation	SNP	G	G	T	rs199501312		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:123052819G>T	ENST00000333479.7	+	21	1793	c.1616G>T	c.(1615-1617)tGg>tTg	p.W539L	KNTC1_ENST00000450485.2_Missense_Mutation_p.W502L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	539					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.W539L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GGCAGTTCTTGGATTGAATTT	0.294																																																1	Substitution - Missense(1)	ovary(1)	12											90	92	91					12																	123052819		1795	4063	5858	121618772	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1616G>T	12.37:g.123052819G>T	ENSP00000328236:p.Trp539Leu		121618772	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502251	0.64298	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.54479	0.57;0.89	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.75825	-0.3181	10	0.72032	D	0.01	-8.3108	19.0977	0.93260	0.0:0.0:1.0:0.0	.	502;539	E7ES84;P50748	.;KNTC1_HUMAN	L	502;539	ENSP00000397992:W502L;ENSP00000328236:W539L	ENSP00000328236:W539L	W	+	2	0	KNTC1	121618772	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.843000	0.92142	2.516000	0.84829	0.460000	0.39030	TGG		0.294	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			T	123052819	G	T	123052819	3	4	62	1	0	0	0	0	1	0	0	0	8428	1357	47	3	1694	3	KNTC1	12	123052819	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	11167628	123052819	10799076	102	3184											
BRI3BP	140707	genome.wustl.edu	37	12	125497110	125497110	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr12:125497110C>A	ENST00000341446.8	+	2	335	c.244C>A	c.(244-246)Ctg>Atg	p.L82M		NM_080626.5	NP_542193.3			BRI3 binding protein									p.L82M(1)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		GAGATTTGTGCTGGGAGTGGA	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											374	338	351					12																	125497110		2203	4300	6503	124063063	SO:0001583	missense	140707			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.244C>A	12.37:g.125497110C>A	ENSP00000340761:p.Leu82Met		124063063		Missense_Mutation	SNP	ENST00000341446.8	37	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	C	8.094	0.775218	0.16051	.	.	ENSG00000184992	ENST00000341446	.	.	.	4.95	-4.82	0.03171	.	0.388120	0.28624	N	0.014683	T	0.24044	0.0582	L	0.29908	0.895	0.09310	N	1	P	0.39624	0.681	P	0.45138	0.471	T	0.25187	-1.0139	9	0.34782	T	0.22	-15.1284	7.3974	0.26944	0.1372:0.3092:0.0:0.5536	.	82	Q8WY22	BRI3B_HUMAN	M	82	.	ENSP00000340761:L82M	L	+	1	2	BRI3BP	124063063	0.851000	0.29673	0.578000	0.28575	0.044000	0.14063	-0.034000	0.12225	-0.488000	0.06726	-1.855000	0.00564	CTG		0.502	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		A	125497110	C	A	125497110	3	1	62	1	0	0	0	0	1	0	0	0	1513	796	28	3	250	3	BRI3BP	12	125497110	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	2444291	125497110	8354785	103	3185											
TPTE2	93492	genome.wustl.edu	37	13	20056660	20056660	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr13:20056660T>G	ENST00000400230.2	-	4	191	c.147A>C	c.(145-147)gaA>gaC	p.E49D	TPTE2_ENST00000457266.2_Missense_Mutation_p.E49D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E49D|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.E49D|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.E49D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E49D			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	49					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CATCTTCAACTTCAAACTTGG	0.328																																																0			13											53	52	53					13																	20056660		2201	4299	6500	18954660	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.147A>C	13.37:g.20056660T>G	ENSP00000383089:p.Glu49Asp		18954660	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.926	-0.222039	0.06061	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.96365	-3.64;-3.99;-3.48;-3.48;-3.64;-3.99	0.235	0.235	0.15431	.	0.398507	0.24165	U	0.040957	D	0.92021	0.7472	L	0.50333	1.59	0.09310	N	1	B;B	0.16166	0.009;0.016	B;B	0.12156	0.005;0.007	T	0.82210	-0.0570	8	.	.	.	-0.0187	.	.	.	.	49;49	A8MX64;Q6XPS3	.;TPTE2_HUMAN	D	49	ENSP00000372438:E49D;ENSP00000382974:E49D;ENSP00000383089:E49D;ENSP00000372437:E49D;ENSP00000372435:E49D;ENSP00000442218:E49D	.	E	-	3	2	TPTE2	18954660	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.419000	0.02460	0.263000	0.21812	0.260000	0.18958	GAA		0.328	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20056660	T	G	20056660	3	3	62	1	0	0	0	0	1	0	0	0	16431	1606	56	5	1489	5	TPTE2	13	20056660	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09		20056660	95113218	104	3186											
MTUS2	23281	genome.wustl.edu	37	13	29898764	29898764	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr13:29898764G>A	ENST00000431530.3	+	5	2909	c.2851G>A	c.(2851-2853)Gct>Act	p.A951T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	941	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.A951T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAAGAAAGATGCTCAGAAAGA	0.378																																																1	Substitution - Missense(1)	ovary(1)	13											75	64	67					13																	29898764		1855	4101	5956	28796764	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2851G>A	13.37:g.29898764G>A	ENSP00000392057:p.Ala951Thr		28796764	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	1.037	-0.680004	0.03353	.	.	ENSG00000132938	ENST00000431530	T	0.12147	2.71	4.75	0.87	0.19102	.	1.255290	0.05486	N	0.555590	T	0.07908	0.0198	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40794	-0.9544	9	.	.	.	.	4.9449	0.13984	0.0842:0.2632:0.518:0.1346	.	941	Q5JR59	MTUS2_HUMAN	T	951	ENSP00000392057:A951T	.	A	+	1	0	MTUS2	28796764	0.415000	0.25416	0.017000	0.16124	0.266000	0.26442	0.466000	0.22019	-0.273000	0.09246	-1.284000	0.01376	GCT		0.378	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		A	29898764	G	A	29898764	3	1	62	1	0	0	0	0	1	0	0	0	9966	1319	46	2	2869	2	MTUS2	13	29898764	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	9842104	29898764	85271114	105	3187											
RFXAP	5994	genome.wustl.edu	37	13	37394092	37394092	+	Nonsense_Mutation	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr13:37394092G>T	ENST00000255476.2	+	1	732	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	200					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E200*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		CGTCAAACTCGAGGTATCAGA	0.542																																																1	Substitution - Nonsense(1)	ovary(1)	13											43	44	43					13																	37394092		2203	4300	6503	36292092	SO:0001587	stop_gained	5994			Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.598G>T	13.37:g.37394092G>T	ENSP00000255476:p.Glu200*		36292092	B2R9T8|Q5VZM6|Q8TC40	Nonsense_Mutation	SNP	ENST00000255476.2	37	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	G	36	5.824135	0.96989	.	.	ENSG00000133111	ENST00000255476	.	.	.	4.93	4.93	0.64822	.	0.053706	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.3859	13.6305	0.62191	0.0:0.0:1.0:0.0	.	.	.	.	X	200	.	ENSP00000255476:E200X	E	+	1	0	RFXAP	36292092	1.000000	0.71417	0.999000	0.59377	0.365000	0.29674	4.233000	0.58651	2.286000	0.76751	0.655000	0.94253	GAG		0.542	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		T	37394092	G	T	37394092	4	4	62	1	0	0	0	0	0	1	0	0	13273	1059	37	3	600	3	RFXAP	13	37394092	Nonsense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	7495328	37394092	77775786	106	3188											
CLEC14A	161198	genome.wustl.edu	37	14	38723783	38723783	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr14:38723783T>C	ENST00000342213.2	-	1	1791	c.1445A>G	c.(1444-1446)gAg>gGg	p.E482G		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	482						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E482G(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AAGAGGGGACTCCGCCAGCAA	0.542																																																1	Substitution - Missense(1)	ovary(1)	14											70	72	71					14																	38723783		2203	4300	6503	37793534	SO:0001583	missense	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1445A>G	14.37:g.38723783T>C	ENSP00000353013:p.Glu482Gly		37793534	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	T	2.606	-0.291862	0.05568	.	.	ENSG00000176435	ENST00000342213	T	0.73258	-0.73	4.64	-4.6	0.03390	.	1.895300	0.03486	N	0.215908	T	0.43765	0.1262	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47799	-0.9089	10	0.07482	T	0.82	-3.2284	11.8667	0.52496	0.0:0.2657:0.0:0.7343	.	482	Q86T13	CLC14_HUMAN	G	482	ENSP00000353013:E482G	ENSP00000353013:E482G	E	-	2	0	CLEC14A	37793534	0.000000	0.05858	0.008000	0.14137	0.123000	0.20343	-1.247000	0.02893	-0.835000	0.04234	-0.313000	0.08912	GAG		0.542	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		C	38723783	T	C	38723783	3	2	62	1	0	0	0	0	1	0	0	0	3499	1551	54	4	31	4	CLEC14A	14	38723783	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09		38723783	68625757	107	3189											
GPX2	2877	genome.wustl.edu	37	14	65406266	65406266	+	Silent	SNP	G	G	C	rs527885375		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr14:65406266G>C	ENST00000389614.5	-	2	599	c.513C>G	c.(511-513)cgC>cgG	p.R171R	FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	171					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)	p.R171R(1)		large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TTGGGAAGGTGCGGCTGTAGC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	14											157	153	154					14																	65406266		2001	4171	6172	64476019	SO:0001819	synonymous_variant	2877				CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.513C>G	14.37:g.65406266G>C			64476019	Q6PJ52|Q8WWI7|Q9NRP9	Silent	SNP	ENST00000389614.5	37	CCDS41964.1																																																																																				0.537	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			C	65406266	G	C	65406266	2	2	62	1	0	0	0	0	0	0	0	1	6740	1306	46	3		3	GPX2	14	65406266	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	26682483	65406266	41943274	108	3190											
DCAF5	8816	genome.wustl.edu	37	14	69521948	69521948	+	Silent	SNP	G	G	T	rs144184761		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr14:69521948G>T	ENST00000341516.5	-	9	1602	c.1455C>A	c.(1453-1455)ccC>ccA	p.P485P	DCAF5_ENST00000557386.1_Silent_p.P484P|DCAF5_ENST00000554215.1_Silent_p.P403P|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Silent_p.P403P	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	485					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.P485P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TGACCCGCAGGGGCCCCAGGT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	14											37	38	38					14																	69521948		2203	4300	6503	68591701	SO:0001819	synonymous_variant	8816			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1455C>A	14.37:g.69521948G>T			68591701	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	37	CCDS32106.1																																																																																				0.627	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		T	69521948	G	T	69521948	2	4	62	1	0	0	0	0	0	0	0	1	4273	1219	43	3		3	DCAF5	14	69521948	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	4115682	69521948	37827592	109	3191											
MGA	23269	genome.wustl.edu	37	15	42041416	42041417	+	Frame_Shift_Ins	INS	-	-	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	-	-	-	A	-	-	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr15:42041416_42041417insA	ENST00000570161.1	+	16	5611_5612	c.5611_5612insA	c.(5611-5613)gttfs	p.V1871fs	MGA_ENST00000219905.7_Frame_Shift_Ins_p.V1871fs|MGA_ENST00000566586.1_Frame_Shift_Ins_p.V1662fs|MGA_ENST00000545763.1_Frame_Shift_Ins_p.V1662fs|MGA_ENST00000389936.4_Frame_Shift_Ins_p.V1832fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.V1920fs*22(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATTCAAGCTGTTGGGTCTTCT	0.485																																																1	Insertion - Frameshift(1)	ovary(1)	15																																								39828709	SO:0001589	frameshift_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		Exception_encountered	15.37:g.42041416_42041417insA	ENSP00000457035:p.Val1871fs		39828708	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Ins	INS	ENST00000570161.1	37	CCDS55959.1																																																																																				0.485	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		A	42041417	-	A	42041416	7	5	62	1	0	1	1	0	0	0	0	0	9540	1377	48	0	5673	0	MGA	15	42041416	Frame_Shift_Ins	INS	-	TCGA-10-0930-01A-02W-0421-09		42041416	60489976	110	3192											
EHD4	30844	genome.wustl.edu	37	15	42245976	42245976	+	Silent	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr15:42245976G>A	ENST00000220325.4	-	2	482	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	133	Dynamin-type G.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.N133N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCAGGAAAGCGTTTCCAAAGC	0.468																																																1	Substitution - coding silent(1)	ovary(1)	15											106	106	106					15																	42245976		2203	4299	6502	40033268	SO:0001819	synonymous_variant	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.399C>T	15.37:g.42245976G>A			40033268	Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	CCDS10081.1																																																																																				0.468	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		A	42245976	G	A	42245976	2	1	62	1	0	0	0	0	0	0	0	1	4980	1136	40	1		1	EHD4	15	42245976	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	204560	42245976	60285416	111	3193											
DIS3L	115752	genome.wustl.edu	37	15	66618704	66618704	+	Splice_Site	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr15:66618704T>G	ENST00000319212.4	+	12	2251		c.e12+2		DIS3L_ENST00000319194.5_Splice_Site|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease						RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGATACACGGTATTCCTCTTT	0.458																																																1	Unknown(1)	ovary(1)	15											29	31	30					15																	66618704		2183	4281	6464	64405758	SO:0001630	splice_region_variant	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2201+2T>G	15.37:g.66618704T>G			64405758	Q8N1N8|Q8WTU9|Q96CM7	Splice_Site	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.122421	0.56613	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.814	0.63281	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIS3L	64405758	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.238000	0.72350	2.029000	0.59856	0.379000	0.24179	.		0.458	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	Intron	G	66618704	T	G	66618704	5	3	62	1	0	0	0	0	0	0	1	0	4536	1652	57	5	2249	5	DIS3L	15	66618704	Splice_Site	SNP	T	TCGA-10-0930-01A-02W-0421-09	24372728	66618704	35912688	112	3194											
BTBD1	53339	genome.wustl.edu	37	15	83725179	83725179	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr15:83725179G>C	ENST00000261721.4	-	2	722	c.520C>G	c.(520-522)Cat>Gat	p.H174D	RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.H174D	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	174					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)		p.H174D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GCCCTAAGATGTTTGGTGAGA	0.363																																																1	Substitution - Missense(1)	ovary(1)	15											115	100	105					15																	83725179		2203	4300	6503	81516183	SO:0001583	missense	53339			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.520C>G	15.37:g.83725179G>C	ENSP00000261721:p.His174Asp		81516183	A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972820	0.34848	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.66815	-0.23;-0.23	5.92	5.92	0.95590	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	N	0.14661	0.345	0.58432	D	0.999997	B;B	0.19445	0.036;0.036	B;B	0.29440	0.102;0.102	T	0.51092	-0.8749	10	0.41790	T	0.15	-20.3638	20.3172	0.98658	0.0:0.0:1.0:0.0	.	174;174	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	D	174	ENSP00000261721:H174D;ENSP00000368713:H174D	ENSP00000261721:H174D	H	-	1	0	BTBD1	81516183	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.020000	0.70826	2.801000	0.96364	0.650000	0.86243	CAT		0.363	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			C	83725179	G	C	83725179	3	2	62	1	0	0	0	0	1	0	0	0	1537	1377	48	3	956	3	BTBD1	15	83725179	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	17106475	83725179	18806213	113	3195											
PDE8A	5151	genome.wustl.edu	37	15	85610364	85610364	+	Silent	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr15:85610364G>A	ENST00000310298.4	+	4	615	c.363G>A	c.(361-363)ctG>ctA	p.L121L	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Silent_p.L49L|PDE8A_ENST00000394553.1_Silent_p.L121L|PDE8A_ENST00000339708.5_Silent_p.L121L			O60658	PDE8A_HUMAN	phosphodiesterase 8A	121					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.L121L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CCTGTTTCCTGGACAAACATC	0.468																																																1	Substitution - coding silent(1)	ovary(1)	15											159	133	142					15																	85610364		2203	4299	6502	83411368	SO:0001819	synonymous_variant	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.363G>A	15.37:g.85610364G>A			83411368	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	CCDS10336.1																																																																																				0.468	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		A	85610364	G	A	85610364	2	1	62	1	0	0	0	0	0	0	0	1	11653	1335	47	2		2	PDE8A	15	85610364	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	1885185	85610364	16921028	114	3196											
MAN2A2	4122	genome.wustl.edu	37	15	91450062	91450062	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr15:91450062C>G	ENST00000559717.1	+	7	1387	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V	MAN2A2_ENST00000431652.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.L310V			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	310					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.L310V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACCAGCATGCTGATTCAGAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	15											86	76	79					15																	91450062		2198	4298	6496	89251066	SO:0001583	missense	4122			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.928C>G	15.37:g.91450062C>G	ENSP00000452948:p.Leu310Val		89251066	A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640501	0.47153	.	.	ENSG00000196547	ENST00000360468	T	0.21191	2.02	5.65	2.3	0.28687	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.065425	0.64402	D	0.000014	T	0.18923	0.0454	N	0.25789	0.76	0.80722	D	1	B;B	0.31680	0.258;0.335	B;B	0.43838	0.21;0.433	T	0.07673	-1.0760	10	0.27082	T	0.32	-21.2889	9.0409	0.36316	0.0:0.6766:0.1113:0.2121	.	310;310	P49641-1;P49641	.;MA2A2_HUMAN	V	310	ENSP00000353655:L310V	ENSP00000353655:L310V	L	+	1	2	MAN2A2	89251066	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.564000	0.45931	0.760000	0.33108	0.442000	0.29010	CTG		0.597	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		G	91450062	C	G	91450062	3	3	62	1	0	0	0	0	1	0	0	0	9215	796	28	3	950	3	MAN2A2	15	91450062	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	5839698	91450062	11081330	115	3197											
SEPX1	51734	genome.wustl.edu	37	16	1990804	1990804	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr16:1990804G>T	ENST00000361871.3	-	3	463	c.294C>A	c.(292-294)agC>agA	p.S98R	MSRB1_ENST00000399753.2_Missense_Mutation_p.Q220K|MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000564908.1_Missense_Mutation_p.Q145K	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1	98					actin filament polymerization (GO:0030041)|innate immune response (GO:0045087)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|methionine-R-sulfoxide reductase activity (GO:0070191)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.S98R(1)								L-Methionine(DB00134)	TCAGCGAGCTGCTGAATATTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	16											47	48	48					16																	1990804		1893	4116	6009	1930805	SO:0001583	missense	51734			AF166124	CCDS42100.1	16p13.3	2012-05-22	2012-03-01	2012-03-01	ENSG00000198736	ENSG00000198736			14133	protein-coding gene	gene with protein product		606216	"selenoprotein X, 1"	SEPX1		10608886, 20634897	Standard	NM_016332		Approved	SelR, SepR, SelX	uc021tam.1	Q9NZV6	OTTHUMG00000129143	ENST00000361871.3:c.294C>A	16.37:g.1990804G>T	ENSP00000355084:p.Ser98Arg		1930805	Q96RX6|Q9BTV2|Q9P0B1	Missense_Mutation	SNP	ENST00000361871.3	37	CCDS42100.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.44|14.44	2.537023|2.537023	0.45176|0.45176	.|.	.|.	ENSG00000198736|ENSG00000198736	ENST00000399753|ENST00000361871	T|D	0.79247|0.82893	-1.25|-1.66	4.61|4.61	2.22|2.22	0.28083|0.28083	.|.	.|.	.|.	.|.	.|.	D|D	0.90463|0.90463	0.7013|0.7013	M|M	0.92738|0.92738	3.34|3.34	0.26766|0.26766	N|N	0.96989|0.96989	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.83220|0.83220	-0.0069|-0.0069	7|7	0.87932|0.87932	D|D	0|0	.|.	10.7257|10.7257	0.46066|0.46066	0.1954:0.0:0.8046:0.0|0.1954:0.0:0.8046:0.0	.|.	.|.	.|.	.|.	K|R	220|98	ENSP00000382657:Q220K|ENSP00000355084:S98R	ENSP00000382657:Q220K|ENSP00000355084:S98R	Q|S	-|-	1|3	0|2	SEPX1|SEPX1	1930805|1930805	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.784000|0.784000	0.44337|0.44337	3.602000|3.602000	0.54066|0.54066	0.927000|0.927000	0.37143|0.37143	-0.145000|-0.145000	0.13849|0.13849	CAG|AGC		0.592	MSRB1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000251203.1	NM_016332		T	1990804	G	T	1990804	3	4	62	1	0	0	0	0	1	0	0	0	14076	1310	46	3	64	3	SEPX1	16	1990804	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09		1990804	88363949	116	3198											
SEC14L5	9717	genome.wustl.edu	37	16	5055934	5055934	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr16:5055934A>G	ENST00000251170.7	+	12	1502	c.1322A>G	c.(1321-1323)gAg>gGg	p.E441G		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	441	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.E441G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TTCATCAATGAGAACACCAGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	16											44	45	45					16																	5055934		1910	4117	6027	4995935	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1322A>G	16.37:g.5055934A>G	ENSP00000251170:p.Glu441Gly		4995935		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867435	0.72065	.	.	ENSG00000103184	ENST00000251170	T	0.62105	0.05	4.06	4.06	0.47325	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.64402	D	0.000001	T	0.78792	0.4339	M	0.89353	3.025	0.80722	D	1	D	0.54397	0.966	P	0.59643	0.861	D	0.83543	0.0097	10	0.72032	D	0.01	-15.9373	13.1919	0.59715	1.0:0.0:0.0:0.0	.	441	O43304	S14L5_HUMAN	G	441	ENSP00000251170:E441G	ENSP00000251170:E441G	E	+	2	0	SEC14L5	4995935	1.000000	0.71417	0.999000	0.59377	0.652000	0.38707	8.590000	0.90821	1.718000	0.51419	0.454000	0.30748	GAG		0.488	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			G	5055934	A	G	5055934	3	3	62	1	0	0	0	0	1	0	0	0	13988	304	11	4	1364	4	SEC14L5	16	5055934	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	3065130	5055934	85298819	117	3199											
DNAH3	55567	genome.wustl.edu	37	16	21093010	21093010	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr16:21093010T>G	ENST00000261383.3	-	20	2915	c.2916A>C	c.(2914-2916)gaA>gaC	p.E972D	DNAH3_ENST00000415178.1_Missense_Mutation_p.E972D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	972	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E972D(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCAGGTCGTTTCGGTGGGCT	0.438																																																1	Substitution - Missense(1)	ovary(1)	16											181	173	175					16																	21093010		2201	4300	6501	21000511	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2916A>C	16.37:g.21093010T>G	ENSP00000261383:p.Glu972Asp		21000511	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	8.836	0.941153	0.18281	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61980	0.06;0.06	5.27	2.99	0.34606	Dynein heavy chain, domain-2 (1);	0.142496	0.47093	N	0.000254	T	0.41328	0.1154	L	0.28115	0.83	0.35119	D	0.76684	B	0.13145	0.007	B	0.18561	0.022	T	0.30937	-0.9961	10	0.12103	T	0.63	.	5.8557	0.18718	0.1481:0.0832:0.0:0.7687	.	972	Q8TD57	DYH3_HUMAN	D	972	ENSP00000261383:E972D;ENSP00000394245:E972D	ENSP00000261383:E972D	E	-	3	2	DNAH3	21000511	0.991000	0.36638	0.964000	0.40570	0.727000	0.41649	0.751000	0.26348	0.323000	0.23307	0.533000	0.62120	GAA		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		G	21093010	T	G	21093010	3	3	62	1	0	0	0	0	1	0	0	0	4603	1838	64	5	9605	5	DNAH3	16	21093010	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	16037076	21093010	69261743	118	3200											
SALL1	6299	genome.wustl.edu	37	16	51174403	51174403	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr16:51174403G>T	ENST00000251020.4	-	2	1763	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.P480H|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	577					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P577H(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATGGGGATGGGGGCTGGCTC	0.612																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - Missense(1)	ovary(1)	16											39	45	43					16																	51174403		2198	4300	6498	49731904	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1730C>A	16.37:g.51174403G>T	ENSP00000251020:p.Pro577His		49731904	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907035	0.52333	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09255	3.01;3.0	5.32	5.32	0.75619	.	0.054759	0.85682	D	0.000000	T	0.21267	0.0512	L	0.44542	1.39	0.43579	D	0.995913	D	0.69078	0.997	P	0.55667	0.781	T	0.00514	-1.1695	10	0.33141	T	0.24	.	18.9957	0.92812	0.0:0.0:1.0:0.0	.	577	Q9NSC2	SALL1_HUMAN	H	577;480;541	ENSP00000251020:P577H;ENSP00000407914:P480H	ENSP00000251020:P577H	P	-	2	0	SALL1	49731904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.080000	0.64437	2.475000	0.83589	0.557000	0.71058	CCC		0.612	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		T	51174403	G	T	51174403	3	4	62	1	0	0	0	0	1	0	0	0	13813	1232	43	3	2252	3	SALL1	16	51174403	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	30081393	51174403	39180350	119	3201											
NLRC5	84166	genome.wustl.edu	37	16	57089399	57089399	+	Silent	SNP	G	G	A	rs144081659	byFrequency	TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr16:57089399G>A	ENST00000262510.6	+	27	3939	c.3714G>A	c.(3712-3714)ttG>ttA	p.L1238L	NLRC5_ENST00000539144.1_Intron|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Intron|NLRC5_ENST00000436936.1_Silent_p.L1238L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1238					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.L1238L(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCTGCTGGTTGCTGAGCAAGT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	16						G		3,4393	6.2+/-15.9	0,3,2195	94	72	79		3714	-0.1	0.5	16	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	NLRC5	NM_032206.3		0,3,6495	AA,AG,GG		0.0,0.0682,0.0231		1238/1867	57089399	3,12993	2198	4300	6498	55646900	SO:0001819	synonymous_variant	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3714G>A	16.37:g.57089399G>A			55646900	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202743	0.01581	6.82E-4	0.0	ENSG00000140853	ENST00000538805	.	.	.	4.7	-0.129	0.13502	.	.	.	.	.	T	0.42832	0.1220	.	.	.	0.44711	D	0.9977	.	.	.	.	.	.	T	0.28776	-1.0033	4	.	.	.	.	2.769	0.05328	0.4399:0.0:0.3523:0.2079	.	.	.	.	T	990	.	.	A	+	1	0	NLRC5	55646900	0.050000	0.20438	0.532000	0.27989	0.053000	0.15095	0.012000	0.13287	0.442000	0.26555	0.591000	0.81541	GCT		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57089399	G	A	57089399	2	1	62	1	0	0	0	0	0	0	0	1	10470	1310	46	2		2	NLRC5	16	57089399	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	5914996	57089399	33265354	120	3202											
PMFBP1	83449	genome.wustl.edu	37	16	72174374	72174374	+	Silent	SNP	C	C	T	rs267604630		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr16:72174374C>T	ENST00000237353.10	-	6	1005	c.744G>A	c.(742-744)aaG>aaA	p.K248K	PMFBP1_ENST00000355636.6_Silent_p.K103K|PMFBP1_ENST00000537465.1_Silent_p.K248K	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	248						cytoplasm (GO:0005737)		p.K248K(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTTGAGAGACCTTTTGCCAGA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	16											281	267	272					16																	72174374		2198	4300	6498	70731875	SO:0001819	synonymous_variant	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.744G>A	16.37:g.72174374C>T			70731875	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	CCDS32483.1																																																																																				0.448	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		T	72174374	C	T	72174374	2	4	62	1	0	0	0	0	0	0	0	1	12134	680	24	2		2	PMFBP1	16	72174374	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	15084975	72174374	18180379	121	3203											
PFAS	5198	genome.wustl.edu	37	17	8158834	8158834	+	Silent	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr17:8158834G>A	ENST00000314666.6	+	5	532	c.399G>A	c.(397-399)ccG>ccA	p.P133P	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	133					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.P133P(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCCACCCCCCGTCAGCTGAGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	17											60	56	57					17																	8158834		2203	4300	6503	8099559	SO:0001819	synonymous_variant	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.399G>A	17.37:g.8158834G>A			8099559	A6H8V8	Silent	SNP	ENST00000314666.6	37	CCDS11136.1																																																																																				0.567	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			A	8158834	G	A	8158834	2	1	62	1	0	0	0	0	0	0	0	1	11754	1132	40	1		1	PFAS	17	8158834	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09		8158834	73036376	122	3204											
MYH8	4626	genome.wustl.edu	37	17	10303802	10303802	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr17:10303802G>T	ENST00000403437.2	-	27	3734	c.3640C>A	c.(3640-3642)Cag>Aag	p.Q1214K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1214					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.Q1214K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACCCGCTGCAAGTTGTCA	0.547									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							1	Substitution - Missense(1)	ovary(1)	17											120	106	111					17																	10303802		2203	4300	6503	10244527	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3640C>A	17.37:g.10303802G>T	ENSP00000384330:p.Gln1214Lys		10244527	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684023	0.68157	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78924	-1.22	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.39544	U	0.001333	T	0.80879	0.4708	M	0.63169	1.94	0.58432	D	0.999998	B	0.28291	0.206	B	0.37387	0.248	T	0.80115	-0.1517	10	0.87932	D	0	.	19.2529	0.93932	0.0:0.0:1.0:0.0	.	1214	P13535	MYH8_HUMAN	K	1214	ENSP00000384330:Q1214K	ENSP00000252173:Q1214K	Q	-	1	0	MYH8	10244527	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.385000	0.97223	2.785000	0.95823	0.655000	0.94253	CAG		0.547	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10303802	G	T	10303802	3	4	62	1	0	0	0	0	1	0	0	0	10041	1328	46	3	2229	3	MYH8	17	10303802	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	2144968	10303802	70891408	123	3205											
RHOT1	55288	genome.wustl.edu	37	17	30503219	30503219	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr17:30503219G>C	ENST00000333942.6	+	6	555	c.316G>C	c.(316-318)Gac>Cac	p.D106H	RHOT1_ENST00000354266.3_Missense_Mutation_p.D85H|RHOT1_ENST00000545287.2_Missense_Mutation_p.D106H|RHOT1_ENST00000358365.3_Missense_Mutation_p.D106H|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000581094.1_Missense_Mutation_p.D106H|RHOT1_ENST00000394692.2_Missense_Mutation_p.D106H|RHOT1_ENST00000583994.1_5'UTR	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	106	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D106H(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGAAAGAACAGACAAAGACAG	0.333																																																1	Substitution - Missense(1)	ovary(1)	17											62	61	61					17																	30503219		2203	4298	6501	27527332	SO:0001583	missense	55288			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.316G>C	17.37:g.30503219G>C	ENSP00000334724:p.Asp106His		27527332	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574606	0.45902	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942;ENST00000545287	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.14	5.14	0.70334	Small GTP-binding protein domain (1);MIRO (1);	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	N	0.05467	-0.045	0.80722	D	1	B;B;B;B	0.19583	0.037;0.027;0.02;0.01	B;B;B;B	0.26202	0.067;0.049;0.029;0.018	T	0.61907	-0.6966	10	0.46703	T	0.11	-10.2141	18.6223	0.91326	0.0:0.0:1.0:0.0	.	106;106;106;106	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	H	106	ENSP00000351132:D106H;ENSP00000378184:D106H;ENSP00000334724:D106H;ENSP00000439737:D106H	ENSP00000334724:D106H	D	+	1	0	RHOT1	27527332	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.460000	0.97641	2.385000	0.81259	0.655000	0.94253	GAC		0.333	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		C	30503219	G	C	30503219	3	2	62	1	0	0	0	0	1	0	0	0	13346	942	33	3	338	3	RHOT1	17	30503219	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	20199417	30503219	50691991	124	3206											
CDK5R1	8851	genome.wustl.edu	37	17	30815160	30815160	+	Silent	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr17:30815160C>T	ENST00000313401.3	+	2	1211	c.522C>T	c.(520-522)ccC>ccT	p.P174P		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	174					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)	p.P174P(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCACGGACCCCGTGCTCTGGC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	17											53	55	54					17																	30815160		2203	4299	6502	27839273	SO:0001819	synonymous_variant	8851			X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.522C>T	17.37:g.30815160C>T			27839273	E1P664|Q5U0G3	Silent	SNP	ENST00000313401.3	37	CCDS11273.1																																																																																				0.662	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		T	30815160	C	T	30815160	2	4	62	1	0	0	0	0	0	0	0	1	3143	639	23	1		1	CDK5R1	17	30815160	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	311941	30815160	50380050	125	3207											
DDX52	11056	genome.wustl.edu	37	17	35990068	35990068	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr17:35990068C>A	ENST00000349699.2	-	5	782	c.739G>T	c.(739-741)Gcc>Tcc	p.A247S	DDX52_ENST00000394367.3_Missense_Mutation_p.A139S	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	247	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.A247S(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ACCTGGCTGGCAAGTTCTCGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	17											138	131	133					17																	35990068		2203	4300	6503	33064181	SO:0001583	missense	11056			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.739G>T	17.37:g.35990068C>A	ENSP00000268854:p.Ala247Ser		33064181	Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590649	0.96590	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.20881	2.04;2.04	6.06	6.06	0.98353	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.097095	0.64402	D	0.000001	T	0.52191	0.1719	M	0.78456	2.415	0.80722	D	1	P	0.35011	0.48	P	0.58172	0.834	T	0.41197	-0.9522	10	0.62326	D	0.03	.	19.6279	0.95687	0.0:1.0:0.0:0.0	.	247	Q9Y2R4	DDX52_HUMAN	S	247;139	ENSP00000268854:A247S;ENSP00000377893:A139S	ENSP00000268854:A247S	A	-	1	0	DDX52	33064181	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.267000	0.78462	2.880000	0.98712	0.650000	0.86243	GCC		0.363	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		A	35990068	C	A	35990068	3	1	62	1	0	0	0	0	1	0	0	0	4370	710	25	3	1104	3	DDX52	17	35990068	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	5174908	35990068	45205142	126	3208											
KIF18B	146909	genome.wustl.edu	37	17	43011389	43011389	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr17:43011389T>C	ENST00000593135.1	-	7	1061	c.964A>G	c.(964-966)Aca>Gca	p.T322A	KIF18B_ENST00000339151.4_Missense_Mutation_p.T322A|KIF18B_ENST00000590129.1_Missense_Mutation_p.T331A|KIF18B_ENST00000438933.2_Missense_Mutation_p.T322A|KIF18B_ENST00000587309.1_Missense_Mutation_p.T322A	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	331	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.T322A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCATCACTGTGCGGCAGTTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	17											45	48	47					17																	43011389		2142	4276	6418	40366915	SO:0001583	missense	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.964A>G	17.37:g.43011389T>C	ENSP00000465992:p.Thr322Ala		40366915	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	T	31	5.079300	0.94050	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.76968	-1.06;-1.06	5.5	5.5	0.81552	Kinesin, motor domain (4);	0.000000	0.36591	N	0.002503	D	0.90079	0.6901	M	0.90595	3.13	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.92165	0.5739	10	0.87932	D	0	.	15.6238	0.76833	0.0:0.0:0.0:1.0	.	331;331;331	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	A	322	ENSP00000412798:T322A;ENSP00000341466:T322A	ENSP00000341466:T322A	T	-	1	0	KIF18B	40366915	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.131000	0.64751	2.099000	0.63709	0.528000	0.53228	ACA		0.622	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		C	43011389	T	C	43011389	3	2	62	1	0	0	0	0	1	0	0	0	8281	1696	59	4	1642	4	KIF18B	17	43011389	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	7021321	43011389	38183821	127	3209											
MYOM1	8736	genome.wustl.edu	37	18	3079264	3079264	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr18:3079264G>C	ENST00000356443.4	-	34	4894	c.4561C>G	c.(4561-4563)Ccc>Gcc	p.P1521A	MYOM1_ENST00000400569.3_Missense_Mutation_p.P1521A|MYOM1_ENST00000261606.7_Missense_Mutation_p.P1425A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1521					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.P1521A(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCGGGGTGGGCTCGTTGATT	0.473																																																1	Substitution - Missense(1)	ovary(1)	18											100	96	97					18																	3079264		1909	4113	6022	3069264	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4561C>G	18.37:g.3079264G>C	ENSP00000348821:p.Pro1521Ala		3069264	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919222	0.92249	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.32023	1.47;1.47;1.47	5.94	5.94	0.96194	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.79011	2.435	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.49409	-0.8943	10	0.09590	T	0.72	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	1425;1521	P52179-2;P52179	.;MYOM1_HUMAN	A	1521;1521;1425	ENSP00000348821:P1521A;ENSP00000383413:P1521A;ENSP00000261606:P1425A	ENSP00000261606:P1425A	P	-	1	0	MYOM1	3069264	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.441000	0.97557	2.816000	0.96949	0.563000	0.77884	CCC		0.473	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		C	3079264	G	C	3079264	3	2	62	1	0	0	0	0	1	0	0	0	10091	1203	42	3	516	3	MYOM1	18	3079264	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09		3079264	74997984	128	3210											
CIDEA	1149	genome.wustl.edu	37	18	12274107	12274107	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr18:12274107C>A	ENST00000320477.9	+	4	411	c.346C>A	c.(346-348)Ccc>Acc	p.P116T	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	116					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.P150T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCAGCACGTCCCCACTTGCTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	18											78	63	68					18																	12274107		2203	4300	6503	12264107	SO:0001583	missense	1149			AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.346C>A	18.37:g.12274107C>A	ENSP00000320209:p.Pro116Thr		12264107	B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145618	0.09134	.	.	ENSG00000176194	ENST00000320477	T	0.41400	1.0	5.03	2.05	0.26809	.	0.452094	0.22040	N	0.065479	T	0.28366	0.0701	L	0.57536	1.79	0.24533	N	0.994101	B;B	0.17852	0.017;0.024	B;B	0.10450	0.005;0.005	T	0.30621	-0.9972	10	0.02654	T	1	-17.5489	4.9343	0.13932	0.3791:0.5208:0.0:0.1001	.	150;116	Q8N5P9;O60543	.;CIDEA_HUMAN	T	116	ENSP00000320209:P116T	ENSP00000320209:P116T	P	+	1	0	CIDEA	12264107	0.001000	0.12720	0.050000	0.19076	0.003000	0.03518	0.021000	0.13489	1.225000	0.43566	0.655000	0.94253	CCC		0.587	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		A	12274107	C	A	12274107	3	1	62	1	0	0	0	0	1	0	0	0	3425	623	22	3	504	3	CIDEA	18	12274107	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	9194843	12274107	65803141	129	3211											
MC5R	4161	genome.wustl.edu	37	18	13826421	13826421	+	Silent	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr18:13826421C>T	ENST00000324750.3	+	1	879	c.657C>T	c.(655-657)atC>atT	p.I219I	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	219					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.I219I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCAAGCGGATCGCGGCTCTGC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	18											286	243	258					18																	13826421		2203	4300	6503	13816421	SO:0001819	synonymous_variant	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.657C>T	18.37:g.13826421C>T			13816421	B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	CCDS11868.1																																																																																				0.627	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		T	13826421	C	T	13826421	2	4	62	1	0	0	0	0	0	0	0	1	9367	874	31	1		1	MC5R	18	13826421	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	1552314	13826421	64250827	130	3212											
NPC1	4864	genome.wustl.edu	37	18	21118554	21118554	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr18:21118554A>C	ENST00000269228.5	-	20	3547	c.2993T>G	c.(2992-2994)tTc>tGc	p.F998C	NPC1_ENST00000540608.1_5'Flank|NPC1_ENST00000412552.2_Missense_Mutation_p.F680C	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	998					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.F998C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATGGGCAGGAATCTCATGAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	18											132	135	134					18																	21118554		2203	4300	6503	19372552	SO:0001583	missense	257641			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2993T>G	18.37:g.21118554A>C	ENSP00000269228:p.Phe998Cys		19372552	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599203	0.87055	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.93659	-3.26;-3.17	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.96654	0.8908	M	0.85299	2.745	0.80722	D	1	P;D	0.76494	0.892;0.999	P;D	0.65987	0.627;0.94	D	0.97332	0.9951	10	0.87932	D	0	-33.0601	15.6629	0.77203	1.0:0.0:0.0:0.0	.	1009;998	Q59GR1;O15118	.;NPC1_HUMAN	C	998;680	ENSP00000269228:F998C;ENSP00000408606:F680C	ENSP00000269228:F998C	F	-	2	0	NPC1	19372552	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.328000	0.79160	2.165000	0.68154	0.533000	0.62120	TTC		0.552	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		C	21118554	A	C	21118554	3	2	62	1	0	0	0	0	1	0	0	0	10570	246	9	5	867	5	NPC1	18	21118554	Missense_Mutation	SNP	A	TCGA-10-0930-01A-02W-0421-09	7292133	21118554	56958694	131	3213											
ALPK2	115701	genome.wustl.edu	37	18	56205396	56205396	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr18:56205396C>G	ENST00000361673.3	-	5	2236	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	675						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E41Q(1)|p.E675Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCAGCAGGCTCTGAGAAAGCT	0.458																																																2	Substitution - Missense(2)	ovary(2)	18											47	46	46					18																	56205396		2203	4294	6497	54356376	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2023G>C	18.37:g.56205396C>G	ENSP00000354991:p.Glu675Gln		54356376	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889929	0.72524	.	.	ENSG00000198796	ENST00000361673	T	0.52057	0.68	5.76	4.88	0.63580	.	2.593350	0.01338	N	0.011486	T	0.57272	0.2042	L	0.50333	1.59	0.09310	N	1	D;P	0.56035	0.974;0.807	P;B	0.49421	0.61;0.197	T	0.47355	-0.9124	10	0.36615	T	0.2	-4.604	12.9286	0.58275	0.0:0.8375:0.1625:0.0	.	675;675	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	Q	675	ENSP00000354991:E675Q	ENSP00000354991:E675Q	E	-	1	0	ALPK2	54356376	0.001000	0.12720	0.008000	0.14137	0.566000	0.35808	0.774000	0.26675	1.423000	0.47198	0.655000	0.94253	GAG		0.458	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		G	56205396	C	G	56205396	3	3	62	1	0	0	0	0	1	0	0	0	545	922	32	3	4525	3	ALPK2	18	56205396	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	35086842	56205396	21871852	132	3214											
CDH19	28513	genome.wustl.edu	37	18	64178858	64178858	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr18:64178858T>A	ENST00000262150.2	-	10	1815	c.1523A>T	c.(1522-1524)aAt>aTt	p.N508I	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1778	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N508I(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TACAGATAGATTAAAGTAAAA	0.308																																																1	Substitution - Missense(1)	ovary(1)	18											85	86	86					18																	64178858		2202	4296	6498	62329838	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1523A>T	18.37:g.64178858T>A	ENSP00000262150:p.Asn508Ile		62329838	O15098	Missense_Mutation	SNP	ENST00000262150.2	37	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	T	5.641	0.302872	0.10678	.	.	ENSG00000071991	ENST00000262150	T	0.37411	1.2	5.03	3.85	0.44370	Cadherin (4);Cadherin-like (1);	0.301936	0.35838	N	0.002957	T	0.31949	0.0813	L	0.36672	1.1	0.29044	N	0.884924	B	0.33044	0.395	B	0.41571	0.36	T	0.28839	-1.0031	10	0.59425	D	0.04	.	6.5221	0.22281	0.0:0.0781:0.3009:0.621	.	508	Q9H159	CAD19_HUMAN	I	508	ENSP00000262150:N508I	ENSP00000262150:N508I	N	-	2	0	CDH19	62329838	0.670000	0.27512	0.235000	0.24058	0.575000	0.36095	0.805000	0.27112	1.020000	0.39573	0.477000	0.44152	AAT		0.308	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		A	64178858	T	A	64178858	3	1	62	1	0	0	0	0	1	0	0	0	3104	1493	52	5	807	5	CDH19	18	64178858	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	7973462	64178858	13898390	133	3215											
CELF5	60680	genome.wustl.edu	37	19	3282187	3282187	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:3282187T>C	ENST00000292672.2	+	7	851	c.814T>C	c.(814-816)Ttc>Ctc	p.F272L	CELF5_ENST00000541430.2_Missense_Mutation_p.F272L	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	272					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.F272L(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CGGCGTGGCCTTCTCACCCTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	19											123	103	110					19																	3282187		2203	4300	6503	3233187	SO:0001583	missense	60680			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.814T>C	19.37:g.3282187T>C	ENSP00000292672:p.Phe272Leu		3233187	D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.418393	0.62622	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.25250	2.54;1.87;1.81	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.16938	0.0407	N	0.20807	0.61	0.51012	D	0.999903	B;B;B	0.23442	0.041;0.085;0.004	B;B;B	0.31547	0.008;0.132;0.005	T	0.04053	-1.0981	10	0.07990	T	0.79	-24.1861	13.124	0.59342	0.0:0.0:0.0:1.0	.	158;272;272	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	L	272;272;158	ENSP00000292672:F272L;ENSP00000443498:F272L;ENSP00000335182:F158L	ENSP00000292672:F272L	F	+	1	0	CELF5	3233187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.372000	0.52387	1.845000	0.53610	0.454000	0.30748	TTC		0.617	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		C	3282187	T	C	3282187	3	2	62	1	0	0	0	0	1	0	0	0	3219	1609	56	4	840	4	CELF5	19	3282187	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09		3282187	55846796	134	3216											
LRG1	116844	genome.wustl.edu	37	19	4538173	4538173	+	Missense_Mutation	SNP	C	C	T	rs373305310		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:4538173C>T	ENST00000306390.6	-	2	1283	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	PLIN5_ENST00000381848.3_5'Flank|LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000586133.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	275					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.V275M(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCGGGCACGCTGGCCAGT	0.637																																																1	Substitution - Missense(1)	ovary(1)	19						C	MET/VAL	0,4406		0,0,2203	75	74	74		823	1.9	0	19		74	2,8598		0,2,4298	no	missense	LRG1	NM_052972.2	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	275/348	4538173	2,13004	2203	4300	6503	4489173	SO:0001583	missense	116844				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.823G>A	19.37:g.4538173C>T	ENSP00000302621:p.Val275Met		4489173	Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	19.68	3.872973	0.72180	0.0	2.33E-4	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02631	4.22	5.24	1.87	0.25490	.	0.651566	0.12751	N	0.442161	T	0.08223	0.0205	M	0.79693	2.465	0.09310	N	1	D	0.65815	0.995	P	0.53450	0.726	T	0.24012	-1.0172	10	0.62326	D	0.03	-19.9041	3.2528	0.06820	0.1805:0.5492:0.1744:0.0959	.	275	P02750	A2GL_HUMAN	M	275;258	ENSP00000302621:V275M	ENSP00000302621:V275M	V	-	1	0	LRG1	4489173	0.001000	0.12720	0.001000	0.08648	0.782000	0.44232	0.184000	0.16939	0.322000	0.23283	0.655000	0.94253	GTG		0.637	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		T	4538173	C	T	4538173	3	4	62	1	0	0	0	0	1	0	0	0	8942	536	19	1	224	1	LRG1	19	4538173	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	1255986	4538173	54590810	135	3217											
PNPLA6	10908	genome.wustl.edu	37	19	7619516	7619516	+	Silent	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:7619516C>T	ENST00000221249.6	+	24	2858	c.2427C>T	c.(2425-2427)gaC>gaT	p.D809D	PNPLA6_ENST00000545201.2_Silent_p.D782D|PNPLA6_ENST00000450331.3_Silent_p.D809D|PNPLA6_ENST00000414982.3_Silent_p.D857D|PNPLA6_ENST00000600737.1_Silent_p.D847D	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	848					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.D809D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCAGACGGACGCCTCGCTGA	0.662																																																1	Substitution - coding silent(1)	ovary(1)	19											87	75	79					19																	7619516		2203	4300	6503	7525516	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2427C>T	19.37:g.7619516C>T			7525516	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.662	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7619516	C	T	7619516	2	4	62	1	0	0	0	0	0	0	0	1	12169	535	19	1		1	PNPLA6	19	7619516	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	3081343	7619516	51509467	136	3218											
DAND5	199699	genome.wustl.edu	37	19	13080509	13080509	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:13080509T>G	ENST00000317060.2	+	1	214	c.35T>G	c.(34-36)cTg>cGg	p.L12R	DAND5_ENST00000585548.1_Missense_Mutation_p.L42R	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	12					atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)	p.L12R(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CTTCTGTGCCTGCTTAGCGGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											108	110	109					19																	13080509		2203	4300	6503	12941509	SO:0001583	missense	199699			AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"DAN domain family, member 5"			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.35T>G	19.37:g.13080509T>G	ENSP00000323155:p.Leu12Arg		12941509		Missense_Mutation	SNP	ENST00000317060.2	37	CCDS12291.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709728	0.48517	.	.	ENSG00000179284	ENST00000317060	T	0.44482	0.92	3.79	3.79	0.43588	.	0.000000	0.28914	N	0.013729	T	0.49695	0.1572	L	0.36672	1.1	0.29044	N	0.88491	D	0.89917	1.0	D	0.71656	0.974	T	0.44221	-0.9342	10	0.87932	D	0	-16.6365	8.945	0.35753	0.0:0.0:0.0:1.0	.	12	Q8N907	DAND5_HUMAN	R	12	ENSP00000323155:L12R	ENSP00000323155:L12R	L	+	2	0	DAND5	12941509	0.959000	0.32827	0.978000	0.43139	0.194000	0.23727	2.030000	0.41108	1.370000	0.46153	0.379000	0.24179	CTG		0.627	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452761.1	NM_152654		G	13080509	T	G	13080509	3	3	62	1	0	0	0	0	1	0	0	0	4230	1580	55	5	37	5	DAND5	19	13080509	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	5460993	13080509	46048474	137	3219											
DCAF15	90379	genome.wustl.edu	37	19	14070608	14070608	+	Silent	SNP	A	A	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:14070608A>G	ENST00000254337.6	+	9	1362	c.1341A>G	c.(1339-1341)acA>acG	p.T447T		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	447					protein ubiquitination (GO:0016567)			p.T447T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						AGCAGCTCACACTAGACTTCG	0.592											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	19											98	78	85					19																	14070608		2203	4300	6503	13931608	SO:0001819	synonymous_variant	90379			BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1341A>G	19.37:g.14070608A>G		692	13931608	B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	CCDS32926.1																																																																																				0.592	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		G	14070608	A	G	14070608	2	3	62	1	0	0	0	0	0	0	0	1	4267	146	6	4		4	DCAF15	19	14070608	Silent	SNP	A	TCGA-10-0930-01A-02W-0421-09	990099	14070608	45058375	138	3220											
OR10H4	126541	genome.wustl.edu	37	19	16060303	16060303	+	Silent	SNP	G	G	A	rs201781055		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:16060303G>A	ENST00000322107.1	+	1	486	c.486G>A	c.(484-486)acG>acA	p.T162T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T162T(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGGTGACAACGATAGTTTTCC	0.498													.|||	1	0.000199681	0	0	5008	,	,		23864	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19						G		1,4405	2.1+/-5.4	0,1,2202	242	204	217		486	-1.6	0	19		217	0,8600		0,0,4300	no	coding-synonymous	OR10H4	NM_001004465.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		162/317	16060303	1,13005	2203	4300	6503	15921303	SO:0001819	synonymous_variant	126541			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.486G>A	19.37:g.16060303G>A			15921303	Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	CCDS32941.1																																																																																				0.498	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			A	16060303	G	A	16060303	2	1	62	1	0	0	0	0	0	0	0	1	10908	1045	37	1		1	OR10H4	19	16060303	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	1989695	16060303	43068680	139	3221											
ANO8	57719	genome.wustl.edu	37	19	17438567	17438567	+	Silent	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:17438567G>A	ENST00000159087.4	-	14	2507	c.2349C>T	c.(2347-2349)gaC>gaT	p.D783D		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	783					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.D783D(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTTGAAGGCGTCGCTGCGGA	0.647																																																1	Substitution - coding silent(1)	ovary(1)	19											80	77	78					19																	17438567		2203	4300	6503	17299567	SO:0001819	synonymous_variant	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2349C>T	19.37:g.17438567G>A			17299567	A6NIJ0	Silent	SNP	ENST00000159087.4	37	CCDS32949.1																																																																																				0.647	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		A	17438567	G	A	17438567	2	1	62	1	0	0	0	0	0	0	0	1	703	1136	40	1		1	ANO8	19	17438567	Silent	SNP	G	TCGA-10-0930-01A-02W-0421-09	1378264	17438567	41690416	140	3222											
NCAN	1463	genome.wustl.edu	37	19	19335156	19335156	+	Missense_Mutation	SNP	G	G	A	rs564199075		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:19335156G>A	ENST00000252575.6	+	5	791	c.692G>A	c.(691-693)cGt>cAt	p.R231H	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	231	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R231H(2)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TATGGCGACCGTAGCAGCCTT	0.597													G|||	1	0.000199681	0	0	5008	,	,		15951	0		0.001	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	19											143	132	135					19																	19335156		2203	4300	6503	19196156	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.692G>A	19.37:g.19335156G>A	ENSP00000252575:p.Arg231His		19196156	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227873	0.95173	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.09630	2.96	4.83	4.83	0.62350	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.483161	0.15566	N	0.255685	T	0.27731	0.0682	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00695	-1.1606	10	0.54805	T	0.06	.	15.4278	0.75069	0.0:0.0:1.0:0.0	.	231	O14594	NCAN_HUMAN	H	245;231	ENSP00000252575:R231H	ENSP00000252575:R231H	R	+	2	0	NCAN	19196156	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	2.938000	0.48987	2.240000	0.73641	0.561000	0.74099	CGT		0.597	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19335156	G	A	19335156	3	1	62	1	0	0	0	0	1	0	0	0	10204	1145	40	1	706	1	NCAN	19	19335156	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	1896589	19335156	39793827	141	3223											
CCDC123	84902	genome.wustl.edu	37	19	33422396	33422396	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:33422396T>A	ENST00000305768.5	-	9	1056	c.968A>T	c.(967-969)cAt>cTt	p.H323L	CEP89_ENST00000590597.2_Missense_Mutation_p.H323L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	323					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.H323L(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ATTCAAACGATGGACAGTCAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	19											103	88	93					19																	33422396		2203	4300	6503	38114236	SO:0001583	missense	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.968A>T	19.37:g.33422396T>A	ENSP00000306105:p.His323Leu		38114236	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762898	0.89932	.	.	ENSG00000121289	ENST00000305768	T	0.37411	1.2	5.51	5.51	0.81932	.	0.240709	0.48767	D	0.000180	T	0.57110	0.2031	M	0.79475	2.455	0.44780	D	0.997787	D;D;D	0.69078	0.983;0.997;0.982	P;P;P	0.60682	0.755;0.878;0.79	T	0.59032	-0.7530	10	0.40728	T	0.16	-11.94	14.5858	0.68322	0.0:0.0:0.0:1.0	.	323;76;323	Q96ST8-3;Q96ST8-2;Q96ST8	.;.;CEP89_HUMAN	L	323	ENSP00000306105:H323L	ENSP00000306105:H323L	H	-	2	0	CEP89	38114236	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	6.782000	0.75073	2.091000	0.63221	0.477000	0.44152	CAT		0.363	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		A	33422396	T	A	33422396	3	1	62	1	0	0	0	0	1	0	0	0	2759	1464	51	5	1427	5	CCDC123	19	33422396	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	14087240	33422396	25706587	142	3224											
SHKBP1	92799	genome.wustl.edu	37	19	41089374	41089374	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:41089374G>C	ENST00000291842.5	+	11	1080	c.1031G>C	c.(1030-1032)gGc>gCc	p.G344A	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G319A	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	344					protein homooligomerization (GO:0051260)			p.G344A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCAACAACGGCTCCATTTAC	0.662																																																1	Substitution - Missense(1)	ovary(1)	19											41	36	38					19																	41089374		2203	4300	6503	45781214	SO:0001583	missense	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1031G>C	19.37:g.41089374G>C	ENSP00000291842:p.Gly344Ala		45781214	Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743392	0.89663	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.14022	2.54	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.97110	1.0;1.0;0.998;0.998;0.997;0.995	T	0.49606	-0.8922	10	0.87932	D	0	-5.1287	17.6664	0.88203	0.0:0.0:1.0:0.0	.	222;181;267;181;344;344	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	A	344;181	ENSP00000291842:G344A	ENSP00000291842:G344A	G	+	2	0	SHKBP1	45781214	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.216000	0.95154	2.480000	0.83734	0.555000	0.69702	GGC		0.662	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		C	41089374	G	C	41089374	3	2	62	1	0	0	0	0	1	0	0	0	14287	1203	42	3	1073	3	SHKBP1	19	41089374	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	7666978	41089374	18039609	143	3225											
ZNF610	162963	genome.wustl.edu	37	19	52856964	52856964	+	Silent	SNP	C	C	T	rs375754279		TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:52856964C>T	ENST00000403906.3	+	4	549	c.93C>T	c.(91-93)atC>atT	p.I31I	ZNF610_ENST00000601151.1_Silent_p.I31I|ZNF610_ENST00000327920.8_Silent_p.I31I|ZNF610_ENST00000321287.8_Silent_p.I31I	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I31I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ACGTGGCCATCGAATTCTCTC	0.438																																																1	Substitution - coding silent(1)	ovary(1)	19						C	,,,	1,4405	2.1+/-5.4	0,1,2202	98	98	98		93,93,93,93	-2.9	0.9	19		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,	31/463,31/463,31/420,31/463	52856964	2,13004	2203	4300	6503	57548776	SO:0001819	synonymous_variant	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.93C>T	19.37:g.52856964C>T			57548776	A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	CCDS12851.1																																																																																				0.438	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		T	52856964	C	T	52856964	2	4	62	1	0	0	0	0	0	0	0	1	18036	874	31	1		1	ZNF610	19	52856964	Silent	SNP	C	TCGA-10-0930-01A-02W-0421-09	11767590	52856964	6272019	144	3226											
LILRB4	11006	genome.wustl.edu	37	19	55175798	55175798	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr19:55175798G>A	ENST00000391736.1	+	6	832	c.517G>A	c.(517-519)Gct>Act	p.A173T	LILRB4_ENST00000430952.2_Missense_Mutation_p.A173T|LILRB4_ENST00000270452.2_Missense_Mutation_p.A173T|LILRB4_ENST00000391734.3_Missense_Mutation_p.A173T|LILRB4_ENST00000391733.3_Missense_Mutation_p.A173T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	173	Ig-like C2-type 2.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.A173T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGAGCACGGAGCTCAGCAGCA	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											104	91	95					19																	55175798		2203	4300	6503	59867610	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.517G>A	19.37:g.55175798G>A	ENSP00000375616:p.Ala173Thr		59867610	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	2.960	-0.214785	0.06101	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00695	5.83;5.83;5.83;5.83;5.83;5.83	1.93	-3.85	0.04243	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00637	0.0021	L	0.41824	1.3	0.09310	N	1	B;B;B;B;B	0.25272	0.055;0.039;0.122;0.056;0.011	B;B;B;B;B	0.28465	0.037;0.039;0.09;0.015;0.026	T	0.47674	-0.9099	9	0.12103	T	0.63	.	0.9886	0.01451	0.1406:0.2848:0.2033:0.3713	.	173;173;173;173;173	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	T	173	ENSP00000375616:A173T;ENSP00000270452:A173T;ENSP00000408995:A173T;ENSP00000375614:A173T;ENSP00000375613:A173T;ENSP00000401962:A173T	ENSP00000270452:A173T	A	+	1	0	LILRB4	59867610	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.236000	0.01201	-2.387000	0.00589	-0.719000	0.03609	GCT		0.592	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			A	55175798	G	A	55175798	3	1	62	1	0	0	0	0	1	0	0	0	8793	971	34	2	531	2	LILRB4	19	55175798	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	2318834	55175798	3953185	145	3227											
RBL1	5933	genome.wustl.edu	37	20	35661068	35661068	+	Splice_Site	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr20:35661068C>G	ENST00000373664.3	-	16	2448	c.2382G>C	c.(2380-2382)aaG>aaC	p.K794N	RBL1_ENST00000344359.3_Splice_Site_p.K794N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	794	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.K794N(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AAACACATACCTTTCTGTAAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	20											171	167	168					20																	35661068		2203	4300	6503	35094482	SO:0001630	splice_region_variant	5933			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2382+1G>C	20.37:g.35661068C>G			35094482	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538110	0.85917	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.94931	-3.56;-3.56	5.3	5.3	0.74995	Retinoblastoma-associated protein, B-box (1);Cyclin-like (2);	0.054445	0.64402	D	0.000001	D	0.97820	0.9284	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.98109	1.0419	9	.	.	.	-17.7112	19.1532	0.93499	0.0:1.0:0.0:0.0	.	794;794	P28749-2;P28749	.;RBL1_HUMAN	N	794	ENSP00000362768:K794N;ENSP00000343646:K794N	.	K	-	3	2	RBL1	35094482	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.777000	0.68931	2.775000	0.95449	0.650000	0.86243	AAG		0.338	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	Missense_Mutation	G	35661068	C	G	35661068	5	3	62	1	0	0	0	0	0	0	1	0	13112	695	24	3	861	3	RBL1	20	35661068	Splice_Site	SNP	C	TCGA-10-0930-01A-02W-0421-09		35661068	27364452	146	3228											
APCDD1L	164284	genome.wustl.edu	37	20	57045705	57045705	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr20:57045705T>C	ENST00000371149.3	-	2	378	c.148A>G	c.(148-150)Atc>Gtc	p.I50V	APCDD1L_ENST00000439429.1_Missense_Mutation_p.I61V	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	50						integral component of membrane (GO:0016021)		p.I50V(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGAGGCAGGATCGCAGTGCTG	0.642																																																1	Substitution - Missense(1)	ovary(1)	20											58	46	50					20																	57045705		2201	4297	6498	56479111	SO:0001583	missense	164284			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.148A>G	20.37:g.57045705T>C	ENSP00000360191:p.Ile50Val		56479111		Missense_Mutation	SNP	ENST00000371149.3	37	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	T	5.398	0.258675	0.10239	.	.	ENSG00000198768	ENST00000371149;ENST00000439429;ENST00000425773	T;T;T	0.29917	2.35;2.35;1.55	4.52	-1.61	0.08399	.	1.013520	0.07890	N	0.971044	T	0.12689	0.0308	N	0.03115	-0.41	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.30995	-0.9959	10	0.28530	T	0.3	-11.4204	8.109	0.30903	0.0:0.3077:0.3755:0.3168	.	61;50	F5H6V6;Q8NCL9	.;APCDL_HUMAN	V	50;61;61	ENSP00000360191:I50V;ENSP00000413261:I61V;ENSP00000396856:I61V	ENSP00000360191:I50V	I	-	1	0	APCDD1L	56479111	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.787000	0.26858	0.097000	0.17492	-0.899000	0.02877	ATC		0.642	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		C	57045705	T	C	57045705	3	2	62	1	0	0	0	0	1	0	0	0	766	1435	50	4	1369	4	APCDD1L	20	57045705	Missense_Mutation	SNP	T	TCGA-10-0930-01A-02W-0421-09	21384637	57045705	5979815	147	3229											
SS18L1	26039	genome.wustl.edu	37	20	60740531	60740531	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr20:60740531C>T	ENST00000331758.3	+	8	903	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	SS18L1_ENST00000421564.1_Missense_Mutation_p.R293W|SS18L1_ENST00000370848.4_Missense_Mutation_p.R296W	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	293	Gln-rich.|MFD domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)		p.R293W(1)	SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GAGCTACGACCGGTCCTTCGA	0.617			T	SSX1	synovial sarcoma																																		Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	1	Substitution - Missense(1)	ovary(1)	20											78	58	64					20																	60740531		2203	4300	6503	60173926	SO:0001583	missense	26039			AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.877C>T	20.37:g.60740531C>T	ENSP00000333012:p.Arg293Trp		60173926	A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653949	0.47362	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.37915	1.17;1.17;1.2	5.09	1.56	0.23342	.	0.053577	0.64402	D	0.000002	T	0.55386	0.1917	L	0.59436	1.845	0.35417	D	0.792929	D;D	0.89917	1.0;1.0	D;D	0.87578	0.965;0.998	T	0.70029	-0.4984	10	0.87932	D	0	-51.9805	16.4383	0.83889	0.4049:0.5951:0.0:0.0	.	293;293	B4DSR7;O75177	.;CREST_HUMAN	W	293;293;296	ENSP00000393999:R293W;ENSP00000333012:R293W;ENSP00000359885:R296W	ENSP00000333012:R293W	R	+	1	2	SS18L1	60173926	0.992000	0.36948	0.932000	0.37286	0.186000	0.23388	1.432000	0.34936	0.514000	0.28300	0.313000	0.20887	CGG		0.617	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			T	60740531	C	T	60740531	3	4	62	1	0	0	0	0	1	0	0	0	15178	643	23	1	907	1	SS18L1	20	60740531	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	3694826	60740531	2284989	148	3230											
BRWD1	54014	genome.wustl.edu	37	21	40646359	40646359	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr21:40646359C>A	ENST00000333229.2	-	13	1512	c.1185G>T	c.(1183-1185)tgG>tgT	p.W395C	BRWD1_ENST00000342449.3_Missense_Mutation_p.W395C|BRWD1_ENST00000380800.3_Missense_Mutation_p.W395C	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	395					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.W395C(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCTCAAATCTCCAAATCCGTG	0.403																																					Melanoma(170;988 1986 4794 16843 39731)											1	Substitution - Missense(1)	ovary(1)	21											234	187	203					21																	40646359		2203	4300	6503	39568229	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1185G>T	21.37:g.40646359C>A	ENSP00000330753:p.Trp395Cys		39568229	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.620979|4.620979	0.87460|0.87460	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000455867|ENST00000333229;ENST00000342449;ENST00000380800	.|D;D;D	.|0.83506	.|-1.73;-1.73;-1.73	5.55|5.55	5.55|5.55	0.83447|0.83447	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|D	.|0.94840	.|0.8333	H|H	0.97564|0.97564	4.03|4.03	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;1.0	.|D	.|0.96330	.|0.9243	.|10	.|0.87932	.|D	.|0	-4.0065|-4.0065	19.5042|19.5042	0.95108|0.95108	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106;395;395	.|Q5R2U6;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	X|C	107|395	.|ENSP00000330753:W395C;ENSP00000344333:W395C;ENSP00000370178:W395C	.|ENSP00000330753:W395C	E|W	-|-	1|3	0|0	BRWD1|BRWD1	39568229|39568229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.354000|7.354000	0.79424|0.79424	2.626000|2.626000	0.88956|0.88956	0.484000|0.484000	0.47621|0.47621	GAG|TGG		0.403	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		A	40646359	C	A	40646359	3	1	62	1	0	0	0	0	1	0	0	0	1525	856	30	3	6136	3	BRWD1	21	40646359	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09		40646359	7483536	149	3231											
SGSM1	129049	genome.wustl.edu	37	22	25243735	25243735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr22:25243735C>T	ENST00000400359.4	+	4	281	c.274C>T	c.(274-276)Caa>Taa	p.Q92*	SGSM1_ENST00000400358.4_Nonsense_Mutation_p.Q92*	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	92	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.Q92*(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCGCAAGGTGCAAGACCTGGA	0.607																																																1	Substitution - Nonsense(1)	ovary(1)	22											21	22	22					22																	25243735		2013	4194	6207	23573735	SO:0001587	stop_gained	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.274C>T	22.37:g.25243735C>T	ENSP00000383212:p.Gln92*		23573735	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Nonsense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574848	0.96553	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	.	.	.	3.95	3.95	0.45737	.	0.109678	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-1.2255	15.5526	0.76164	0.0:1.0:0.0:0.0	.	.	.	.	X	67;92;92	.	ENSP00000383211:Q92X	Q	+	1	0	SGSM1	23573735	1.000000	0.71417	0.999000	0.59377	0.770000	0.43624	5.785000	0.68998	2.221000	0.72209	0.460000	0.39030	CAA		0.607	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		T	25243735	C	T	25243735	4	4	62	1	0	0	0	0	0	1	0	0	14225	711	25	2	288	2	SGSM1	22	25243735	Nonsense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09		25243735	26060831	150	3232											
PDXP	57026	genome.wustl.edu	37	22	38061647	38061647	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chr22:38061647G>C	ENST00000215904.6	+	2	716	c.660G>C	c.(658-660)gaG>gaC	p.E220D	PDXP_ENST00000403251.1_Missense_Mutation_p.E3D|SH3BP1_ENST00000599616.1_Missense_Mutation_p.E529D	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	220					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)	p.E220D(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					ACATGTTCGAGTGCATCACGG	0.652																																																1	Substitution - Missense(1)	ovary(1)	22											103	87	92					22																	38061647		2203	4300	6503	36391593	SO:0001583	missense	57026			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.660G>C	22.37:g.38061647G>C	ENSP00000215904:p.Glu220Asp		36391593	Q9UGY2	Missense_Mutation	SNP	ENST00000215904.6	37	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	G	8.247	0.808153	0.16467	.	.	ENSG00000241360	ENST00000215904;ENST00000403251	T;T	0.30448	1.53;1.53	5.52	4.49	0.54785	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	.	.	.	.	T	0.07728	0.0194	N	0.00885	-1.115	0.29907	N	0.823915	B;B	0.09022	0.0;0.002	B;B	0.19148	0.001;0.024	T	0.33854	-0.9852	9	0.02654	T	1	-10.4784	4.3701	0.11244	0.0769:0.1276:0.5236:0.272	.	220;529	Q96GD0;Q6ZT62	PLPP_HUMAN;.	D	220;3	ENSP00000215904:E220D;ENSP00000385336:E3D	ENSP00000215904:E220D	E	+	3	2	PDXP	36391593	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	0.377000	0.20552	1.310000	0.45006	0.561000	0.74099	GAG		0.652	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315		C	38061647	G	C	38061647	3	2	62	1	0	0	0	0	1	0	0	0	11698	1020	36	3	666	3	PDXP	22	38061647	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	12817912	38061647	13242919	151	3233											
DMD	1756	genome.wustl.edu	37	X	32380910	32380910	+	Nonsense_Mutation	SNP	C	C	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chrX:32380910C>A	ENST00000357033.4	-	37	5526	c.5320G>T	c.(5320-5322)Gga>Tga	p.G1774*	DMD_ENST00000378677.2_Nonsense_Mutation_p.G1770*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1774	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.G1769*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTACCTTTCCAGTCTTAATT	0.483																																																1	Substitution - Nonsense(1)	ovary(1)	X											172	136	148					X																	32380910		2202	4300	6502	32290831	SO:0001587	stop_gained	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5320G>T	X.37:g.32380910C>A	ENSP00000354923:p.Gly1774*		32290831	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	48	13.966466	0.99772	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.36	5.36	0.76844	.	0.000000	0.34223	U	0.004157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	18.1316	0.89603	0.0:1.0:0.0:0.0	.	.	.	.	X	1766;433;430;1770;1774;1774;1651	.	ENSP00000354923:G1774X	G	-	1	0	DMD	32290831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.083000	0.64456	2.218000	0.71995	0.544000	0.68410	GGA		0.483	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		A	32380910	C	A	32380910	4	1	62	1	0	0	0	0	0	1	0	0	4580	603	21	3	6057	3	DMD	23	32380910	Nonsense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09		32380910	122889650	152	3234											
MED12	9968	genome.wustl.edu	37	X	70352803	70352803	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chrX:70352803C>G	ENST00000374080.3	+	32	4556	c.4524C>G	c.(4522-4524)caC>caG	p.H1508Q	MED12_ENST00000374102.1_Missense_Mutation_p.H1508Q|MED12_ENST00000333646.6_Missense_Mutation_p.H1508Q			Q93074	MED12_HUMAN	mediator complex subunit 12	1508					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCAGGTGCACCAGGTACAGA	0.522			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0			X											36	33	34					X																	70352803		2002	4155	6157	70269528	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4524C>G	X.37:g.70352803C>G	ENSP00000363193:p.His1508Gln		70269528	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444192	0.25987	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.62105	0.73;0.05;0.73;0.05;1.85	4.61	4.61	0.57282	.	0.176785	0.51477	D	0.000082	T	0.20861	0.0502	N	0.00230	-1.795	0.54753	D	0.999982	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.29941	-0.9995	10	0.09843	T	0.71	-9.18	7.5366	0.27714	0.1538:0.6024:0.2438:0.0	.	1508;1355;1508;1508	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	1508;1508;1508;1508;1476;253	ENSP00000333125:H1508Q;ENSP00000363215:H1508Q;ENSP00000363193:H1508Q;ENSP00000414203:H1476Q;ENSP00000408388:H253Q	ENSP00000333125:H1508Q	H	+	3	2	MED12	70269528	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.403000	0.44530	2.279000	0.76181	0.476000	0.43555	CAC		0.522	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		G	70352803	C	G	70352803	3	3	62	1	0	0	0	0	1	0	0	0	9428	506	18	3	4650	3	MED12	23	70352803	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	37971893	70352803	84917757	153	3235											
MAGEE2	139599	genome.wustl.edu	37	X	75003492	75003503	+	In_Frame_Del	DEL	AAGCTCATATTC	AAGCTCATATTC	-			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	AAGCTCATATTC	AAGCTCATATTC	AAGCTCATATTC	-	AAGCTCATATTC	AAGCTCATATTC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chrX:75003492_75003503delAAGCTCATATTC	ENST00000373359.2	-	1	1576_1587	c.1384_1395delGAATATGAGCTT	c.(1384-1395)gaatatgagcttdel	p.EYEL462del		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	462	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E462_L465del(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCCCATAGAAGCTCATATTCAACTGGATTA	0.467																																																1	Deletion - In frame(1)	ovary(1)	X																																								74920228	SO:0001651	inframe_deletion	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1384_1395delGAATATGAGCTT	X.37:g.75003492_75003503delAAGCTCATATTC	ENSP00000362457:p.Glu462_Leu465del		74920217	Q5JSI5	In_Frame_Del	DEL	ENST00000373359.2	37	CCDS14431.1																																																																																				0.467	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		-	75003503	AAGCTCATATTC	-	75003492	7	5	62	1	0	1	0	1	0	0	0	0	9186	233	9	0	180	0	MAGEE2	23	75003492	In_Frame_Del	DEL	AAGCTCATATTC	TCGA-10-0930-01A-02W-0421-09	4650689	75003492	80267068	154	3236											
BHLHB9	80823	genome.wustl.edu	37	X	102004627	102004627	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chrX:102004627C>G	ENST00000372735.1	+	4	1289	c.704C>G	c.(703-705)tCc>tGc	p.S235C	BHLHB9_ENST00000447531.1_Missense_Mutation_p.S235C|BHLHB9_ENST00000457056.1_Missense_Mutation_p.S235C|BHLHB9_ENST00000361229.4_Missense_Mutation_p.S235C|BHLHB9_ENST00000448867.1_Missense_Mutation_p.S235C			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	235					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.S235*(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGATTTAGATCCCAGGCACCA	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	X											82	77	79					X																	102004627		2203	4300	6503	101891283	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.704C>G	X.37:g.102004627C>G	ENSP00000361820:p.Ser235Cys		101891283	Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617346	0.46736	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	4.5	3.63	0.41609	.	0.476584	0.17988	N	0.155296	T	0.20251	0.0487	N	0.14661	0.345	0.24268	N	0.995253	D	0.89917	1.0	D	0.68765	0.96	T	0.07558	-1.0766	9	.	.	.	-6.1363	8.8899	0.35427	0.2209:0.7791:0.0:0.0	.	235	Q6PI77	BHLH9_HUMAN	C	235	ENSP00000403226:S235C;ENSP00000354675:S235C;ENSP00000405893:S235C;ENSP00000391722:S235C;ENSP00000361820:S235C	.	S	+	2	0	BHLHB9	101891283	0.917000	0.31117	0.986000	0.45419	0.900000	0.52787	0.815000	0.27253	1.228000	0.43614	0.597000	0.82753	TCC		0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		G	102004627	C	G	102004627	3	3	62	1	0	0	0	0	1	0	0	0	1420	855	30	3	706	3	BHLHB9	23	102004627	Missense_Mutation	SNP	C	TCGA-10-0930-01A-02W-0421-09	27001135	102004627	53265933	155	3237											
COL4A5	1287	genome.wustl.edu	37	X	107939571	107939571	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chrX:107939571G>A	ENST00000361603.2	+	51	5265	c.5021G>A	c.(5020-5022)cGa>cAa	p.R1674Q	COL4A5_ENST00000328300.6_Missense_Mutation_p.R1680Q	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1674	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.R1674Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTGAGGACACGAATTAGCCGA	0.338									Alport syndrome with Diffuse Leiomyomatosis																																							2	Substitution - Missense(2)	ovary(1)|kidney(1)	X											113	100	105					X																	107939571		2203	4300	6503	107826227	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.5021G>A	X.37:g.107939571G>A	ENSP00000354505:p.Arg1674Gln		107826227	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809871	0.90707	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94330	-3.4;-3.4	5.83	5.83	0.93111	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.66506	2.035	0.80722	D	1	P;P	0.47034	0.889;0.889	P;P	0.52217	0.693;0.693	D	0.94642	0.7831	10	0.49607	T	0.09	.	19.0749	0.93156	0.0:0.0:1.0:0.0	.	1677;1674	E7EVY4;P29400	.;CO4A5_HUMAN	Q	1680;1674;1680	ENSP00000331902:R1680Q;ENSP00000354505:R1674Q	ENSP00000331902:R1680Q	R	+	2	0	COL4A5	107826227	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.789000	0.75110	2.455000	0.83008	0.538000	0.68166	CGA		0.338	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			A	107939571	G	A	107939571	3	1	62	1	0	0	0	0	1	0	0	0	3694	1058	37	1	5234	1	COL4A5	23	107939571	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	5934944	107939571	47330989	156	3238											
FAM50A	9130	genome.wustl.edu	37	X	153674898	153674898	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0930-01A-02W-0421-09	TCGA-10-0930-11A-01W-0977-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	ec98ed86-1d2f-4e54-b2d4-5976469bf0b8	c21a3215-750d-4186-8c67-1f5d2bdc32fa	g.chrX:153674898G>A	ENST00000393600.3	+	4	542	c.432G>A	c.(430-432)atG>atA	p.M144I		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	144					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.M144I(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAGGAGATGGAAAGGGAAG	0.627																																																1	Substitution - Missense(1)	ovary(1)	X											74	48	57					X																	153674898		2194	4291	6485	153328092	SO:0001583	missense	9130			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"DNA segment on chromosome X (unique) 9928 expressed sequence"	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.432G>A	X.37:g.153674898G>A	ENSP00000377225:p.Met144Ile		153328092	A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297335	0.40694	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	5.27	3.48	0.39840	.	1.246750	0.05468	N	0.552468	T	0.31796	0.0808	N	0.22421	0.69	0.24426	N	0.994595	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	9	0.37606	T	0.19	-3.0724	8.6317	0.33924	0.1911:0.0:0.8089:0.0	.	144	Q14320	FA50A_HUMAN	I	144;104	.	ENSP00000158526:M104I	M	+	3	0	FAM50A	153328092	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	2.151000	0.42263	0.995000	0.38917	0.529000	0.55759	ATG		0.627	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		A	153674898	G	A	153674898	3	1	62	1	0	0	0	0	1	0	0	0	5577	1348	47	2	446	2	FAM50A	23	153674898	Missense_Mutation	SNP	G	TCGA-10-0930-01A-02W-0421-09	45735327	153674898	1595662	157	3239											
ZNF281	23528	broad.mit.edu	37	1	200376568	200376568	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr1:200376568G>T	ENST00000294740.3	-	2	2390	c.2266C>A	c.(2266-2268)Cat>Aat	p.H756N	ZNF281_ENST00000367353.1_Missense_Mutation_p.H756N|ZNF281_ENST00000367352.3_Missense_Mutation_p.H720N	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	756					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.H756N(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AACTGCTGATGTGTAGCATCC	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											57	57	57					1																	200376568		2203	4300	6503	198643191	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2266C>A	1.37:g.200376568G>T	ENSP00000294740:p.His756Asn		198643191	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237640	0.58886	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.09630	2.96;2.96;2.96	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	L	0.51422	1.61	0.58432	D	0.999998	D;D	0.63880	0.993;0.993	D;D	0.74674	0.984;0.984	T	0.00386	-1.1772	10	0.62326	D	0.03	-3.5665	19.6035	0.95573	0.0:0.0:1.0:0.0	.	720;756	A6NF48;Q9Y2X9	.;ZN281_HUMAN	N	756;756;720;461	ENSP00000294740:H756N;ENSP00000356322:H756N;ENSP00000356321:H720N	ENSP00000294740:H756N	H	-	1	0	ZNF281	198643191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.612000	0.82975	2.626000	0.88956	0.655000	0.94253	CAT		0.448	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		T	200376568	G	T	200376568	3	4	63	1	0	0	0	0	1	0	0	0	17818	1377	48	3	425	3	ZNF281	1	200376568	Missense_Mutation	SNP	G	TCGA-10-0931-01A-01W-0420-08		200376568	48874053	1	3240											
OBSL1	23363	broad.mit.edu	37	2	220421377	220421377	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr2:220421377A>C	ENST00000404537.1	-	13	4191	c.4135T>G	c.(4135-4137)Ttc>Gtc	p.F1379V	OBSL1_ENST00000265317.5_Missense_Mutation_p.F278V|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Missense_Mutation_p.F1287V|OBSL1_ENST00000265318.4_Missense_Mutation_p.F1287V|OBSL1_ENST00000603926.1_Missense_Mutation_p.F1379V	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1379	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.F1379V(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCACACCGGAACGTGGCATCA	0.627																																																1	Substitution - Missense(1)	ovary(1)	2											51	56	54					2																	220421377		2171	4256	6427	220129621	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4135T>G	2.37:g.220421377A>C	ENSP00000385636:p.Phe1379Val		220129621	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716852	0.48622	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	T;T;T;T	0.74209	3.38;-0.82;-0.82;-0.82	4.16	4.16	0.48862	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85239	0.5651	M	0.77313	2.365	0.35429	D	0.793921	D;D;D;P	0.71674	0.988;0.996;0.998;0.952	D;D;D;P	0.85130	0.962;0.982;0.997;0.792	D	0.90117	0.4196	9	0.62326	D	0.03	.	13.4259	0.61026	1.0:0.0:0.0:0.0	.	186;1380;1379;278	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	V	1287;1379;1287;278	ENSP00000265318:F1287V;ENSP00000385636:F1379V;ENSP00000362983:F1287V;ENSP00000265317:F278V	ENSP00000265317:F278V	F	-	1	0	OBSL1	220129621	0.999000	0.42202	0.871000	0.34182	0.175000	0.22909	4.111000	0.57838	1.766000	0.52107	0.254000	0.18369	TTC		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			C	220421377	A	C	220421377	3	2	63	1	0	0	0	0	1	0	0	0	10813	43	2	5	1614	5	OBSL1	2	220421377	Missense_Mutation	SNP	A	TCGA-10-0931-01A-01W-0420-08		220421377	22777996	2	3241											
SEC61A1	29927	broad.mit.edu	37	3	127788458	127788458	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr3:127788458G>T	ENST00000243253.3	+	12	1568	c.1384G>T	c.(1384-1386)Gtt>Ttt	p.V462F	SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Missense_Mutation_p.V468F|SEC61A1_ENST00000424880.2_Missense_Mutation_p.V342F|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	462					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.V462F(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGAGATCTTCGTTAAGGAGCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											103	111	108					3																	127788458		2203	4300	6503	129271148	SO:0001583	missense	29927			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1384G>T	3.37:g.127788458G>T	ENSP00000243253:p.Val462Phe		129271148	P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238456	0.58886	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.96	5.96	0.96718	SecY subunit domain (2);	0.055610	0.64402	D	0.000001	T	0.78084	0.4228	M	0.86953	2.85	0.80722	D	1	B	0.29835	0.258	B	0.38020	0.263	T	0.77694	-0.2492	9	0.66056	D	0.02	.	20.4084	0.99013	0.0:0.0:1.0:0.0	.	462	P61619	S61A1_HUMAN	F	468;462;342	.	ENSP00000243253:V462F	V	+	1	0	SEC61A1	129271148	1.000000	0.71417	0.986000	0.45419	0.008000	0.06430	9.869000	0.99810	2.833000	0.97629	0.650000	0.86243	GTT		0.607	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		T	127788458	G	T	127788458	3	4	63	1	0	0	0	0	1	0	0	0	14003	1145	40	3	1430	3	SEC61A1	3	127788458	Missense_Mutation	SNP	G	TCGA-10-0931-01A-01W-0420-08		127788458	70233972	3	3242											
XRN1	54464	broad.mit.edu	37	3	142051904	142051904	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr3:142051904C>T	ENST00000264951.4	-	35	4084	c.3967G>A	c.(3967-3969)Gca>Aca	p.A1323T	XRN1_ENST00000392981.2_Missense_Mutation_p.A1323T	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1323					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A1323T(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTCAAAGATGCTAAAAAGTTC	0.368																																																1	Substitution - Missense(1)	ovary(1)	3											84	80	81					3																	142051904		2203	4300	6503	143534594	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3967G>A	3.37:g.142051904C>T	ENSP00000264951:p.Ala1323Thr		143534594	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375042	0.82682	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.39592	1.07;1.07	5.5	4.61	0.57282	.	0.236666	0.42420	D	0.000713	T	0.47801	0.1465	L	0.32530	0.975	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.59825	0.864;0.735	T	0.37911	-0.9685	10	0.51188	T	0.08	-11.5693	13.2221	0.59894	0.0:0.9253:0.0:0.0747	.	1323;1323	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	T	1323	ENSP00000264951:A1323T;ENSP00000376707:A1323T	ENSP00000264951:A1323T	A	-	1	0	XRN1	143534594	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.402000	0.52608	2.854000	0.98071	0.655000	0.94253	GCA		0.368	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		T	142051904	C	T	142051904	3	4	63	1	0	0	0	0	1	0	0	0	17459	797	28	2	1185	2	XRN1	3	142051904	Missense_Mutation	SNP	C	TCGA-10-0931-01A-01W-0420-08	14263446	142051904	55970526	4	3243											
SKIL	6498	broad.mit.edu	37	3	170078893	170078893	+	Silent	SNP	T	T	C			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr3:170078893T>C	ENST00000458537.3	+	1	1483	c.774T>C	c.(772-774)acT>acC	p.T258T	SKIL_ENST00000413427.2_Silent_p.T258T|SKIL_ENST00000259119.4_Silent_p.T258T|SKIL_ENST00000426052.2_Silent_p.T238T	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	258					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.T258T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TAAAGGAAACTGGCAGTGCCT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	3											137	121	126					3																	170078893		2203	4300	6503	171561587	SO:0001819	synonymous_variant	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.774T>C	3.37:g.170078893T>C			171561587	A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	CCDS33890.1																																																																																				0.438	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		C	170078893	T	C	170078893	2	2	63	1	0	0	0	0	0	0	0	1	14361	1567	55	4		4	SKIL	3	170078893	Silent	SNP	T	TCGA-10-0931-01A-01W-0420-08	28026989	170078893	27943537	5	3244											
ZCCHC4	29063	broad.mit.edu	37	4	25363484	25363484	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr4:25363484G>C	ENST00000302874.4	+	9	1039	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	339							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D339H(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTCTAGGTAGATTATGATAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											44	43	43					4																	25363484		1811	4078	5889	24972582	SO:0001583	missense	29063			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1015G>C	4.37:g.25363484G>C	ENSP00000303468:p.Asp339His		24972582	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	CCDS43218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.63|14.63	2.592132|2.592132	0.46214|0.46214	.|.	.|.	ENSG00000168228|ENSG00000168228	ENST00000302874|ENST00000505412	T|.	0.33865|.	1.39|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.125440|.	0.64402|.	D|.	0.000001|.	T|T	0.77980|0.77980	0.4212|0.4212	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70716|.	0.97|.	T|T	0.77059|0.77059	-0.2728|-0.2728	10|5	0.72032|.	D|.	0.01|.	-17.9633|-17.9633	18.7943|18.7943	0.91988|0.91988	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	339|.	Q9H5U6|.	ZCHC4_HUMAN|.	H|T	339|203	ENSP00000303468:D339H|.	ENSP00000303468:D339H|.	D|R	+|+	1|2	0|0	ZCCHC4|ZCCHC4	24972582|24972582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.867000|7.867000	0.87062|0.87062	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.333	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			C	25363484	G	C	25363484	3	2	63	1	0	0	0	0	1	0	0	0	17590	942	33	3	1049	3	ZCCHC4	4	25363484	Missense_Mutation	SNP	G	TCGA-10-0931-01A-01W-0420-08		25363484	165790792	6	3245											
LNX1	84708	broad.mit.edu	37	4	54347947	54347947	+	Silent	SNP	G	G	A	rs201113367		TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr4:54347947G>A	ENST00000263925.7	-	7	1739	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	LNX1_ENST00000306888.2_Silent_p.A379A|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	475					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A379A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTTCCAGCCGGCTTCCTGAA	0.632																																																1	Substitution - coding silent(1)	ovary(1)	4											44	43	43					4																	54347947		2203	4299	6502	54042704	SO:0001819	synonymous_variant	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1425C>T	4.37:g.54347947G>A			54042704	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	37	CCDS47057.1																																																																																				0.632	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			A	54347947	G	A	54347947	2	1	63	1	0	0	0	0	0	0	0	1	8865	1103	39	1		1	LNX1	4	54347947	Silent	SNP	G	TCGA-10-0931-01A-01W-0420-08	28984463	54347947	136806329	7	3246											
EXOC1	55763	broad.mit.edu	37	4	56726676	56726676	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr4:56726676T>C	ENST00000381295.2	+	3	572	c.224T>C	c.(223-225)cTt>cCt	p.L75P	EXOC1_ENST00000346134.7_Missense_Mutation_p.L75P|EXOC1_ENST00000349598.6_Missense_Mutation_p.L75P	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	75					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L75P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTTCGAGATCTTGCTGTGGTA	0.413																																																1	Substitution - Missense(1)	ovary(1)	4											139	135	136					4																	56726676		2203	4300	6503	56421433	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.224T>C	4.37:g.56726676T>C	ENSP00000370695:p.Leu75Pro		56421433	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545522	0.86022	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.82552	-0.0400	9	0.87932	D	0	.	16.2025	0.82095	0.0:0.0:0.0:1.0	.	75;75	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	P	75	.	ENSP00000326514:L75P	L	+	2	0	EXOC1	56421433	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.517000	0.81783	2.289000	0.77006	0.528000	0.53228	CTT		0.413	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		C	56726676	T	C	56726676	3	2	63	1	0	0	0	0	1	0	0	0	5301	1609	56	4	230	4	EXOC1	4	56726676	Missense_Mutation	SNP	T	TCGA-10-0931-01A-01W-0420-08	2378729	56726676	134427600	8	3247											
GFOD1	54438	broad.mit.edu	37	6	13365261	13365261	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr6:13365261C>T	ENST00000379287.3	-	2	1551	c.887G>A	c.(886-888)aGc>aAc	p.S296N	GFOD1_ENST00000379284.1_Missense_Mutation_p.S193N	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	296						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.S296N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGGGATGTCGCTGAAGGCCTT	0.692																																																1	Substitution - Missense(1)	ovary(1)	6											49	51	50					6																	13365261		2203	4300	6503	13473240	SO:0001583	missense	54438			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.887G>A	6.37:g.13365261C>T	ENSP00000368589:p.Ser296Asn		13473240	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271345	0.40194	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.46063	1.45;0.88	5.6	4.72	0.59763	.	0.039193	0.85682	D	0.000000	T	0.17195	0.0413	L	0.34521	1.04	0.49687	D	0.99981	B	0.20887	0.049	B	0.23275	0.045	T	0.05517	-1.0880	10	0.17832	T	0.49	-21.8561	14.9956	0.71428	0.1435:0.8565:0.0:0.0	.	296	Q9NXC2	GFOD1_HUMAN	N	296;193	ENSP00000368589:S296N;ENSP00000368586:S193N	ENSP00000368586:S193N	S	-	2	0	GFOD1	13473240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	1.337000	0.45525	0.555000	0.69702	AGC		0.692	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		T	13365261	C	T	13365261	3	4	63	1	0	0	0	0	1	0	0	0	6343	797	28	2	289	2	GFOD1	6	13365261	Missense_Mutation	SNP	C	TCGA-10-0931-01A-01W-0420-08		13365261	157749806	9	3248											
BTN2A1	11120	broad.mit.edu	37	6	26459887	26459887	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr6:26459887G>C	ENST00000312541.5	+	3	509	c.261G>C	c.(259-261)gaG>gaC	p.E87D	BTN2A1_ENST00000469185.1_Missense_Mutation_p.E87D|BTN2A1_ENST00000429381.1_Missense_Mutation_p.E87D|BTN2A1_ENST00000541522.1_Missense_Mutation_p.E26D	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	87	Ig-like V-type.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.E87D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GAACAGAGGAGCAGATGGAGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	6											165	142	150					6																	26459887		2203	4300	6503	26567866	SO:0001583	missense	11120			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.261G>C	6.37:g.26459887G>C	ENSP00000312158:p.Glu87Asp		26567866	B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200242	0.58126	.	.	ENSG00000112763	ENST00000312541;ENST00000493173;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	3.01	1.19	0.21007	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000072	T	0.58380	0.2118	M	0.68728	2.09	0.25661	N	0.986005	P;D	0.71674	0.857;0.998	P;D	0.67548	0.666;0.952	T	0.50783	-0.8787	10	0.49607	T	0.09	.	7.1371	0.25535	0.2412:0.0:0.7588:0.0	.	87;87	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	D	87;26;26;87;87;87	ENSP00000312158:E87D;ENSP00000420447:E26D;ENSP00000443909:E26D;ENSP00000416945:E87D;ENSP00000419043:E87D	ENSP00000265424:E87D	E	+	3	2	BTN2A1	26567866	0.973000	0.33851	0.998000	0.56505	0.942000	0.58702	0.253000	0.18296	0.311000	0.23014	0.561000	0.74099	GAG		0.547	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		C	26459887	G	C	26459887	3	2	63	1	0	0	0	0	1	0	0	0	1560	962	34	3	267	3	BTN2A1	6	26459887	Missense_Mutation	SNP	G	TCGA-10-0931-01A-01W-0420-08	13094626	26459887	144655180	10	3249											
BMP5	653	broad.mit.edu	37	6	55659173	55659173	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr6:55659173C>T	ENST00000370830.3	-	3	1434	c.736G>A	c.(736-738)Ggt>Agt	p.G246S	BMP5_ENST00000446683.2_Missense_Mutation_p.G246S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	246					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.G246S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACAAGCCAACCCACATCTAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											104	104	104					6																	55659173		2203	4300	6503	55767132	SO:0001583	missense	653				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.736G>A	6.37:g.55659173C>T	ENSP00000359866:p.Gly246Ser		55767132	B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	35	5.584364	0.96578	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.67698	-0.28;-0.28	5.53	5.53	0.82687	Transforming growth factor-beta, N-terminal (1);	0.047845	0.85682	D	0.000000	T	0.81555	0.4847	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82758	-0.0299	10	0.72032	D	0.01	.	19.8185	0.96581	0.0:1.0:0.0:0.0	.	246;246	B4E0Y4;P22003	.;BMP5_HUMAN	S	246	ENSP00000359866:G246S;ENSP00000391818:G246S	ENSP00000359866:G246S	G	-	1	0	BMP5	55767132	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.691000	0.68249	2.750000	0.94351	0.655000	0.94253	GGT		0.393	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			T	55659173	C	T	55659173	3	4	63	1	0	0	0	0	1	0	0	0	1463	623	22	2	648	2	BMP5	6	55659173	Missense_Mutation	SNP	C	TCGA-10-0931-01A-01W-0420-08	29199286	55659173	115455894	11	3250											
TSPAN13	27075	broad.mit.edu	37	7	16817486	16817486	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr7:16817486C>G	ENST00000262067.4	+	4	809	c.376C>G	c.(376-378)Cta>Gta	p.L126V	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	126						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.L126V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CCAGAGAAATCTAAACTGCTG	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											101	95	97					7																	16817486		2203	4300	6503	16784011	SO:0001583	missense	27075			AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"Tetraspanins"	21643	protein-coding gene	gene with protein product		613139	"transmembrane 4 superfamily member 13"	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.376C>G	7.37:g.16817486C>G	ENSP00000262067:p.Leu126Val		16784011		Missense_Mutation	SNP	ENST00000262067.4	37	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504838	0.64410	.	.	ENSG00000106537	ENST00000262067	D	0.82526	-1.62	5.74	0.00658	0.14068	.	0.000000	0.85682	D	0.000000	D	0.89849	0.6834	M	0.85197	2.74	0.45307	D	0.998301	D	0.76494	0.999	D	0.85130	0.997	D	0.88689	0.3207	10	0.62326	D	0.03	-6.7638	10.7989	0.46476	0.0:0.3655:0.0:0.6345	.	126	O95857	TSN13_HUMAN	V	126	ENSP00000262067:L126V	ENSP00000262067:L126V	L	+	1	2	TSPAN13	16784011	1.000000	0.71417	0.964000	0.40570	0.993000	0.82548	0.933000	0.28897	0.119000	0.18210	-0.290000	0.09829	CTA		0.373	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399		G	16817486	C	G	16817486	3	3	63	1	0	0	0	0	1	0	0	0	16637	912	32	3	390	3	TSPAN13	7	16817486	Missense_Mutation	SNP	C	TCGA-10-0931-01A-01W-0420-08		16817486	142321177	12	3251											
ZFHX4	79776	broad.mit.edu	37	8	77766496	77766496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr8:77766496C>T	ENST00000521891.2	+	10	7787	c.7339C>T	c.(7339-7341)Cag>Tag	p.Q2447*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q2421*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q2402*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q2402*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Q2431*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			agcccagccacagccacagcc	0.577										HNSCC(33;0.089)																																						1	Substitution - Nonsense(1)	ovary(1)	8											69	121	103					8																	77766496		2098	4224	6322	77929051	SO:0001587	stop_gained	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7339C>T	8.37:g.77766496C>T	ENSP00000430497:p.Gln2447*		77929051	G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	51	17.689213	0.99891	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.62	4.69	0.59074	.	0.357280	0.19983	U	0.101740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	11.6863	0.51487	0.0:0.8219:0.1781:0.0	.	.	.	.	X	2447;2431;2402;2402;2421	.	ENSP00000050961:Q2402X	Q	+	1	0	ZFHX4	77929051	1.000000	0.71417	0.429000	0.26710	0.823000	0.46562	7.208000	0.77907	2.652000	0.90054	0.555000	0.69702	CAG		0.577	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77766496	C	T	77766496	4	4	63	1	0	0	0	0	0	1	0	0	17635	479	17	2	7373	2	ZFHX4	8	77766496	Nonsense_Mutation	SNP	C	TCGA-10-0931-01A-01W-0420-08		77766496	68597526	13	3252											
MED22	6837	broad.mit.edu	37	9	136211065	136211065	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr9:136211065C>T	ENST00000491289.1	-	4	909	c.328G>A	c.(328-330)Gag>Aag	p.E110K	MED22_ENST00000371999.1_Missense_Mutation_p.E104K|MED22_ENST00000344469.5_Missense_Mutation_p.E110K|MED22_ENST00000343730.5_Missense_Mutation_p.E110K|MED22_ENST00000476080.1_Missense_Mutation_p.E110K|MED22_ENST00000471524.1_5'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	110						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E110K(2)		endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TCGCACTCCTCCTGCAGTGTG	0.567																																																2	Substitution - Missense(2)	ovary(2)	9											132	110	117					9																	136211065		2203	4300	6503	135200886	SO:0001583	missense	6837				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.328G>A	9.37:g.136211065C>T	ENSP00000420393:p.Glu110Lys		135200886	B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281993	0.59867	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	5.08	5.08	0.68730	.	0.144593	0.64402	D	0.000008	T	0.59032	0.2164	L	0.49126	1.545	0.80722	D	1	B;B	0.19200	0.021;0.034	B;B	0.21151	0.012;0.033	T	0.55730	-0.8095	9	0.37606	T	0.19	-18.3246	17.4741	0.87655	0.0:1.0:0.0:0.0	.	110;110	Q15528-2;Q15528	.;MED22_HUMAN	K	110;110;110;110;110;104;110;110;110	.	ENSP00000342343:E110K	E	-	1	0	MED22	135200886	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.388000	0.79795	2.362000	0.80069	0.655000	0.94253	GAG		0.567	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		T	136211065	C	T	136211065	3	4	63	1	0	0	0	0	1	0	0	0	9440	864	30	2	292	2	MED22	9	136211065	Missense_Mutation	SNP	C	TCGA-10-0931-01A-01W-0420-08		136211065	5002366	14	3253											
BRD3	8019	broad.mit.edu	37	9	136917543	136917543	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr9:136917543T>C	ENST00000303407.7	-	3	421	c.236A>G	c.(235-237)aAc>aGc	p.N79S	BRD3_ENST00000357885.2_Missense_Mutation_p.N79S|RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000371834.2_Missense_Mutation_p.N79S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	79	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.N79S(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ATCCATTGGGTTTTTAATTAT	0.343			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		9	9q34	8019	bromodomain containing 3		E	1	Substitution - Missense(1)	ovary(1)	9											76	84	81					9																	136917543		2203	4299	6502	135907364	SO:0001583	missense	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.236A>G	9.37:g.136917543T>C	ENSP00000305918:p.Asn79Ser		135907364	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439552	0.43326	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.30714	1.52;1.52;1.52	4.97	3.8	0.43715	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.49778	1.585	0.51482	D	0.999928	B;B	0.24963	0.115;0.002	B;B	0.23419	0.046;0.004	T	0.05131	-1.0904	10	0.46703	T	0.11	-50.8785	11.2903	0.49245	0.0:0.0:0.1532:0.8468	.	79;79	Q15059-2;Q15059	.;BRD3_HUMAN	S	79	ENSP00000305918:N79S;ENSP00000360900:N79S;ENSP00000350557:N79S	ENSP00000305918:N79S	N	-	2	0	BRD3	135907364	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.147000	0.50639	0.812000	0.34326	0.459000	0.35465	AAC		0.343	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		C	136917543	T	C	136917543	3	2	63	1	0	0	0	0	1	0	0	0	1503	1725	60	4	1984	4	BRD3	9	136917543	Missense_Mutation	SNP	T	TCGA-10-0931-01A-01W-0420-08	706478	136917543	4295888	15	3254											
NSUN6	221078	broad.mit.edu	37	10	18937511	18937511	+	Missense_Mutation	SNP	A	A	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr10:18937511A>T	ENST00000377304.4	-	2	557	c.139T>A	c.(139-141)Tca>Aca	p.S47T	RP11-139J15.7_ENST00000606425.1_Missense_Mutation_p.S35T	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	47							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.S47T(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAGGATGTGACAGGTGCTTT	0.348																																																1	Substitution - Missense(1)	ovary(1)	10											216	204	208					10																	18937511		2203	4300	6503	18977517	SO:0001583	missense	221078			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.139T>A	10.37:g.18937511A>T	ENSP00000366519:p.Ser47Thr		18977517	B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.530752	0.27387	.	.	ENSG00000241058	ENST00000377304	T	0.28895	1.59	4.95	4.95	0.65309	.	0.060303	0.64402	D	0.000002	T	0.28001	0.0690	L	0.51853	1.615	0.49389	D	0.999788	B	0.25351	0.124	B	0.24269	0.052	T	0.06373	-1.0830	10	0.39692	T	0.17	.	10.7457	0.46179	0.8407:0.1593:0.0:0.0	.	47	Q8TEA1	NSUN6_HUMAN	T	47	ENSP00000366519:S47T	ENSP00000366519:S47T	S	-	1	0	NSUN6	18977517	0.983000	0.35010	0.795000	0.32087	0.822000	0.46500	2.066000	0.41452	1.864000	0.54056	0.383000	0.25322	TCA		0.348	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		T	18937511	A	T	18937511	3	4	63	1	0	0	0	0	1	0	0	0	10682	275	10	5	1310	5	NSUN6	10	18937511	Missense_Mutation	SNP	A	TCGA-10-0931-01A-01W-0420-08		18937511	116597236	16	3255											
F2	2147	broad.mit.edu	37	11	46750326	46750326	+	Missense_Mutation	SNP	C	C	T	rs377462682		TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr11:46750326C>T	ENST00000311907.5	+	11	1467	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S	F2_ENST00000530231.1_Intron	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	471	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.P471S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GCTGAAGAAGCCTGTTGCCTT	0.547																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)											1	Substitution - Missense(1)	ovary(1)	11											122	105	111					11																	46750326		2201	4299	6500	46706902	SO:0001583	missense	2147			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1411C>T	11.37:g.46750326C>T	ENSP00000308541:p.Pro471Ser		46706902	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498422	0.64298	.	.	ENSG00000180210	ENST00000311907	D	0.94576	-3.46	5.97	5.05	0.67936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97373	0.9977	10	0.87932	D	0	.	17.208	0.86923	0.0:0.8739:0.1261:0.0	.	471	P00734	THRB_HUMAN	S	471	ENSP00000308541:P471S	ENSP00000308541:P471S	P	+	1	0	F2	46706902	1.000000	0.71417	0.615000	0.29064	0.232000	0.25224	5.917000	0.69989	1.511000	0.48818	-0.175000	0.13238	CCT		0.547	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			T	46750326	C	T	46750326	3	4	63	1	0	0	0	0	1	0	0	0	5342	739	26	2	1453	2	F2	11	46750326	Missense_Mutation	SNP	C	TCGA-10-0931-01A-01W-0420-08		46750326	88256190	17	3256											
FGF3	2248	broad.mit.edu	37	11	69625283	69625283	+	Silent	SNP	G	G	A			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr11:69625283G>A	ENST00000334134.2	-	3	600	c.510C>T	c.(508-510)cgC>cgT	p.R170R		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	170					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.R170R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TCTGTGTGCGGCGGGTCTTGA	0.682																																																1	Substitution - coding silent(1)	ovary(1)	11											21	24	23					11																	69625283		2193	4270	6463	69334464	SO:0001819	synonymous_variant	2248				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.510C>T	11.37:g.69625283G>A			69334464	Q0VG69	Silent	SNP	ENST00000334134.2	37	CCDS8195.1																																																																																				0.682	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		A	69625283	G	A	69625283	2	1	63	1	0	0	0	0	0	0	0	1	5853	1190	42	2		2	FGF3	11	69625283	Silent	SNP	G	TCGA-10-0931-01A-01W-0420-08	22874957	69625283	65381233	18	3257											
ABCC1	4363	broad.mit.edu	37	16	16196532	16196532	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr16:16196532A>G	ENST00000399410.3	+	20	2868	c.2693A>G	c.(2692-2694)aAt>aGt	p.N898S	ABCC1_ENST00000345148.5_Missense_Mutation_p.N898S|ABCC1_ENST00000351154.5_Missense_Mutation_p.N839S|ABCC1_ENST00000399408.2_Missense_Mutation_p.N908S|ABCC1_ENST00000346370.5_Missense_Mutation_p.N842S|ABCC1_ENST00000349029.5_Missense_Mutation_p.N783S|ABCC1_ENST00000576557.1_3'UTR	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	898					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.N898S(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CAAATGGAGAATGGCATGCTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	16											38	44	42					16																	16196532		2078	4210	6288	16104033	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2693A>G	16.37:g.16196532A>G	ENSP00000382342:p.Asn898Ser		16104033	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344154	0.24339	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89343	-2.49;-2.5;-2.12;-2.27;-2.43;-2.3	4.64	4.64	0.57946	.	0.454172	0.26112	N	0.026274	T	0.81133	0.4759	L	0.35341	1.055	0.36090	D	0.843387	B;B;B;B;B;B	0.23058	0.02;0.0;0.016;0.079;0.001;0.008	B;B;B;B;B;B	0.20577	0.03;0.002;0.015;0.02;0.002;0.006	T	0.77443	-0.2586	10	0.10636	T	0.68	-24.9417	12.0965	0.53757	1.0:0.0:0.0:0.0	.	783;898;842;839;898;908	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	S	898;908;842;839;898;783;582	ENSP00000382342:N898S;ENSP00000382340:N908S;ENSP00000263019:N842S;ENSP00000263017:N839S;ENSP00000263014:N898S;ENSP00000263016:N783S	ENSP00000263014:N898S	N	+	2	0	ABCC1	16104033	1.000000	0.71417	0.987000	0.45799	0.692000	0.40212	4.866000	0.63005	1.852000	0.53769	0.533000	0.62120	AAT		0.592	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		G	16196532	A	G	16196532	3	3	63	1	0	0	0	0	1	0	0	0	49	101	4	4	2771	4	ABCC1	16	16196532	Missense_Mutation	SNP	A	TCGA-10-0931-01A-01W-0420-08		16196532	74158221	19	3258											
CD19	930	broad.mit.edu	37	16	28944295	28944295	+	Missense_Mutation	SNP	C	C	A	rs79073646		TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr16:28944295C>A	ENST00000324662.3	+	3	463	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	CD19_ENST00000538922.1_Missense_Mutation_p.S140Y|CD19_ENST00000567541.1_Missense_Mutation_p.S140Y			P15391	CD19_HUMAN	CD19 molecule	140					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.S140Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AAGAACAGGTCCTCAGAGGGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	16																																								28851796	SO:0001583	missense	930				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.419C>A	16.37:g.28944295C>A	ENSP00000313419:p.Ser140Tyr		28851796	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332606	0.81801	.	.	ENSG00000177455	ENST00000538922;ENST00000324662	T;T	0.56103	0.48;0.48	5.11	4.16	0.48862	.	1.104680	0.06948	N	0.813990	T	0.58323	0.2114	L	0.48642	1.525	0.09310	N	1	P;P	0.52061	0.95;0.917	P;P	0.51355	0.667;0.467	T	0.46205	-0.9208	10	0.87932	D	0	-2.2788	9.5018	0.39022	0.0:0.9015:0.0:0.0985	.	140;140	F5H635;P15391	.;CD19_HUMAN	Y	140	ENSP00000437940:S140Y;ENSP00000313419:S140Y	ENSP00000313419:S140Y	S	+	2	0	CD19	28851796	0.002000	0.14202	0.002000	0.10522	0.793000	0.44817	1.418000	0.34782	1.140000	0.42260	0.563000	0.77884	TCC		0.612	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			A	28944295	C	A	28944295	3	1	63	1	0	0	0	0	1	0	0	0	2973	855	30	3	429	3	CD19	16	28944295	Missense_Mutation	SNP	C	TCGA-10-0931-01A-01W-0420-08	12747763	28944295	61410458	20	3259											
PAPD5	64282	broad.mit.edu	37	16	50261840	50261840	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr16:50261840G>C	ENST00000561678.1	+	10	1590	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	PAPD5_ENST00000357464.3_Missense_Mutation_p.E537Q|PAPD5_ENST00000436909.3_Missense_Mutation_p.E616Q|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	490	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.E616Q(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TGTATCCTTGGAGTCCTCTCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	16											102	99	100					16																	50261840		1943	4148	6091	48819341	SO:0001583	missense	64282			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1516G>C	16.37:g.50261840G>C	ENSP00000455837:p.Glu506Gln		48819341	B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37		.	.	.	.	.	.	.	.	.	.	G	18.15	3.560966	0.65538	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.46819	0.86;0.88	6.17	6.17	0.99709	.	0.377447	0.33110	N	0.005275	T	0.30324	0.0761	N	0.08118	0	0.32111	N	0.589356	B;B	0.27559	0.181;0.079	B;B	0.31686	0.134;0.019	T	0.34477	-0.9827	10	0.24483	T	0.36	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	616;490	B4DV38;Q8NDF8	.;PAPD5_HUMAN	Q	616;537	ENSP00000396995:E616Q;ENSP00000350054:E537Q	ENSP00000350054:E537Q	E	+	1	0	PAPD5	48819341	1.000000	0.71417	0.992000	0.48379	0.955000	0.61496	3.978000	0.56881	2.941000	0.99782	0.655000	0.94253	GAG		0.498	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		C	50261840	G	C	50261840	3	2	63	1	0	0	0	0	1	0	0	0	11425	1175	41	3	1892	3	PAPD5	16	50261840	Missense_Mutation	SNP	G	TCGA-10-0931-01A-01W-0420-08	21317545	50261840	40092913	21	3260											
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr17:7578524G>A	ENST00000269305.4	-	5	595	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*	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	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)	TTGGCCAGTTGGCAAAACATC	0.562		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"	67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	17	GRCh37	CM971503	TP53	M							52	52	52					17																	7578524		2203	4300	6503	7519249	SO:0001587	stop_gained	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.406C>T	17.37:g.7578524G>A	ENSP00000269305:p.Gln136*		7519249	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349260	0.95830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	136;136;136;136;136;136;125;43;4;43;4;136	.	ENSP00000269305:Q136X	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578524	G	A	7578524	4	1	63	1	0	0	0	0	0	1	0	0	16381	1357	47	2	892	2	TP53	17	7578524	Nonsense_Mutation	SNP	G	TCGA-10-0931-01A-01W-0420-08		7578524	73616686	22	3261											
RETN	56729	broad.mit.edu	37	19	7734747	7734747	+	Silent	SNP	C	C	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr19:7734747C>T	ENST00000221515.2	+	3	247	c.159C>T	c.(157-159)agC>agT	p.S53S	RETN_ENST00000381324.2_Intron	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	53					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.S53S(1)		ovary(1)	1						AGTGCCAGAGCGTCACCTCCA	0.617																																																1	Substitution - coding silent(1)	ovary(1)	19											61	58	59					19																	7734747		2203	4300	6503	7640747	SO:0001819	synonymous_variant	56729			AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.159C>T	19.37:g.7734747C>T			7640747	D6W649|Q540D9|Q76B53	Silent	SNP	ENST00000221515.2	37	CCDS12182.1																																																																																				0.617	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		T	7734747	C	T	7734747	2	4	63	1	0	0	0	0	0	0	0	1	13239	767	27	1		1	RETN	19	7734747	Silent	SNP	C	TCGA-10-0931-01A-01W-0420-08		7734747	51394236	23	3262											
USP29	57663	broad.mit.edu	37	19	57642198	57642198	+	Nonsense_Mutation	SNP	A	A	T			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr19:57642198A>T	ENST00000254181.4	+	4	2609	c.2155A>T	c.(2155-2157)Aaa>Taa	p.K719*	USP29_ENST00000598197.1_Nonsense_Mutation_p.K719*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	719	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.K719*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTATGACTGTAAAGAAAACAG	0.428																																																1	Substitution - Nonsense(1)	ovary(1)	19											73	71	72					19																	57642198		2203	4300	6503	62334010	SO:0001587	stop_gained	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2155A>T	19.37:g.57642198A>T	ENSP00000254181:p.Lys719*		62334010		Nonsense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	39	7.634070	0.98403	.	.	ENSG00000131864	ENST00000254181	.	.	.	2.0	-1.91	0.07641	.	1.241770	0.06266	U	0.694774	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7445	3.4188	0.07385	0.4481:0.2136:0.3383:0.0	.	.	.	.	X	719	.	ENSP00000254181:K719X	K	+	1	0	USP29	62334010	0.982000	0.34865	0.000000	0.03702	0.189000	0.23516	0.686000	0.25392	-0.609000	0.05724	0.383000	0.25322	AAA		0.428	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			T	57642198	A	T	57642198	4	4	63	1	0	0	0	0	0	1	0	0	17059	363	13	5	2157	5	USP29	19	57642198	Nonsense_Mutation	SNP	A	TCGA-10-0931-01A-01W-0420-08	49907451	57642198	1486785	24	3263											
LPIN3	64900	broad.mit.edu	37	20	39977418	39977418	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chr20:39977418C>G	ENST00000373257.3	+	4	539	c.448C>G	c.(448-450)Ccc>Gcc	p.P150A		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	150					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.P150A(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGGAGGAAACCCAAGCAGAA	0.627																																																1	Substitution - Missense(1)	ovary(1)	20											48	47	47					20																	39977418		2203	4300	6503	39410832	SO:0001583	missense	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.448C>G	20.37:g.39977418C>G	ENSP00000362354:p.Pro150Ala		39410832	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.327809	0.01309	.	.	ENSG00000132793	ENST00000373257	T	0.79653	-1.29	4.35	-1.67	0.08238	.	1.290630	0.05027	N	0.473901	T	0.72431	0.3459	L	0.59436	1.845	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.50363	-0.8837	9	.	.	.	-5.4256	2.3363	0.04248	0.1328:0.3964:0.2936:0.1772	.	150;150	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	A	150	ENSP00000362354:P150A	.	P	+	1	0	LPIN3	39410832	0.231000	0.23751	0.458000	0.27068	0.248000	0.25809	-0.042000	0.12063	-0.056000	0.13221	0.650000	0.86243	CCC		0.627	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		G	39977418	C	G	39977418	3	3	63	1	0	0	0	0	1	0	0	0	8920	507	18	3	458	3	LPIN3	20	39977418	Missense_Mutation	SNP	C	TCGA-10-0931-01A-01W-0420-08		39977418	23048102	25	3264											
RBBP7	5931	broad.mit.edu	37	X	16870701	16870701	+	Silent	SNP	G	G	A			TCGA-10-0931-01A-01W-0420-08	TCGA-10-0931-11A-01W-0420-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae20c15a-759c-4602-9006-682e5e6f19fb	870c2f30-d80a-4225-96f0-9b31dd695cd4	g.chrX:16870701G>A	ENST00000380087.2	-	8	1296	c.936C>T	c.(934-936)ttC>ttT	p.F312F	RBBP7_ENST00000404022.1_Silent_p.F303F|RBBP7_ENST00000380084.4_Silent_p.F356F			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	312					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)	p.F312F(1)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TATGAGATTCGAAGGTATGGA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	X											63	58	60					X																	16870701		2203	4300	6503	16780622	SO:0001819	synonymous_variant	5931			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.936C>T	X.37:g.16870701G>A			16780622	Q5JP00	Silent	SNP	ENST00000380087.2	37	CCDS14179.1																																																																																				0.338	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		A	16870701	G	A	16870701	2	1	63	1	0	0	0	0	0	0	0	1	13107	1049	37	1		1	RBBP7	23	16870701	Silent	SNP	G	TCGA-10-0931-01A-01W-0420-08		16870701	138399859	26	3265											
PTCHD2	57540	genome.wustl.edu	37	1	11595685	11595685	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr1:11595685C>T	ENST00000294484.6	+	20	3938	c.3800C>T	c.(3799-3801)cCc>cTc	p.P1267L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.P1267L|PTCHD2_ENST00000304391.6_Silent_p.A153A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1267					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.P1484L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGAACCTGCCCCCCCACCAG	0.657																																																1	Substitution - Missense(1)	ovary(1)	1											53	63	59					1																	11595685		2124	4214	6338	11518272	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3800C>T	1.37:g.11595685C>T	ENSP00000294484:p.Pro1267Leu		11518272	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533523	0.85812	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90197	-2.62;-2.63	5.55	5.55	0.83447	Membrane transport protein, MMPL type (1);	0.000000	0.85682	D	0.000000	D	0.94305	0.8170	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.94614	0.7807	10	0.87932	D	0	-32.102	18.4775	0.90798	0.0:1.0:0.0:0.0	.	1267	Q9P2K9	PTHD2_HUMAN	L	1267	ENSP00000294484:P1267L;ENSP00000374226:P1267L	ENSP00000294484:P1267L	P	+	2	0	PTCHD2	11518272	1.000000	0.71417	0.995000	0.50966	0.761000	0.43186	3.136000	0.50554	2.606000	0.88127	0.655000	0.94253	CCC		0.657	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11595685	C	T	11595685	3	4	64	1	0	0	0	0	1	0	0	0	12736	623	22	2	3874	2	PTCHD2	1	11595685	Missense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09		11595685	237654936	1	3266											
KLHDC7A	127707	genome.wustl.edu	37	1	18808184	18808184	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr1:18808184G>A	ENST00000400664.1	+	1	761	c.709G>A	c.(709-711)Ggg>Agg	p.G237R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	237						integral component of membrane (GO:0016021)		p.G237R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGCTGGGGCTCTCGA	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											52	53	53					1																	18808184		2203	4300	6503	18680771	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.709G>A	1.37:g.18808184G>A	ENSP00000383505:p.Gly237Arg		18680771	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	7.737	0.700548	0.15106	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.79247	-1.25	5.27	4.35	0.52113	.	0.392297	0.21411	U	0.074980	T	0.64929	0.2643	L	0.27053	0.805	0.09310	N	1	B;B	0.24882	0.113;0.113	B;B	0.25506	0.031;0.061	T	0.59663	-0.7412	10	0.87932	D	0	.	8.0691	0.30678	0.1841:0.0:0.8159:0.0	.	174;237	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	R	237;174	ENSP00000383505:G237R	ENSP00000383505:G237R	G	+	1	0	KLHDC7A	18680771	0.002000	0.14202	0.312000	0.25196	0.005000	0.04900	0.722000	0.25925	1.208000	0.43306	0.467000	0.42956	GGG		0.602	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18808184	G	A	18808184	3	1	64	1	0	0	0	0	1	0	0	0	8360	1348	47	2	711	2	KLHDC7A	1	18808184	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09	7212499	18808184	230442437	2	3267											
MYBPHL	343263	genome.wustl.edu	37	1	109839553	109839553	+	Silent	SNP	C	C	T	rs117363727	byFrequency	TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr1:109839553C>T	ENST00000357155.1	-	5	631	c.582G>A	c.(580-582)acG>acA	p.T194T	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	194	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.T194T(1)		central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GCTCCAGCACCGTGAACCACA	0.577													C|||	16	0.00319489	8e-04	0	5008	,	,		19516	0.0149		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1											119	100	106					1																	109839553		2203	4300	6503	109641076	SO:0001819	synonymous_variant	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.582G>A	1.37:g.109839553C>T			109641076	B7ZME5|Q5T2Z7	Silent	SNP	ENST00000357155.1	37	CCDS30793.1																																																																																				0.577	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		T	109839553	C	T	109839553	2	4	64	1	0	0	0	0	0	0	0	1	10015	639	23	1		1	MYBPHL	1	109839553	Silent	SNP	C	TCGA-10-0933-01A-01W-0421-09	91031369	109839553	139411068	3	3268											
FAM40A	85369	genome.wustl.edu	37	1	110589333	110589333	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr1:110589333C>T	ENST00000369795.3	+	13	1470	c.1448C>T	c.(1447-1449)gCa>gTa	p.A483V	STRIP1_ENST00000369796.1_Missense_Mutation_p.A388V	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	483					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.A483V(1)									GAGGTCCAGGCACAGATGGAG	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											176	173	174					1																	110589333		2203	4300	6503	110390856	SO:0001583	missense	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1448C>T	1.37:g.110589333C>T	ENSP00000358810:p.Ala483Val		110390856	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956716	0.53293	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.39229	1.09;1.09	5.83	4.91	0.64330	.	0.220619	0.47852	N	0.000209	T	0.10252	0.0251	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.18871	0.002;0.023	T	0.10965	-1.0607	10	0.25751	T	0.34	-11.5801	7.1994	0.25873	0.0:0.7176:0.0:0.2824	.	388;483	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	V	388;483	ENSP00000358811:A388V;ENSP00000358810:A483V	ENSP00000358810:A483V	A	+	2	0	FAM40A	110390856	1.000000	0.71417	0.969000	0.41365	0.827000	0.46813	4.948000	0.63590	1.477000	0.48234	0.650000	0.86243	GCA		0.577	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		T	110589333	C	T	110589333	3	4	64	1	0	0	0	0	1	0	0	0	5560	710	25	2	1498	2	FAM40A	1	110589333	Missense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09	749780	110589333	138661288	4	3269											
PSMB4	5692	genome.wustl.edu	37	1	151372582	151372582	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr1:151372582G>T	ENST00000290541.6	+	2	320	c.266G>T	c.(265-267)cGa>cTa	p.R89L		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)	p.R89L(1)		endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGCATTATGCGAGTCAACAAC	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											168	169	169					1																	151372582		2203	4300	6503	149639206	SO:0001583	missense	5692			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.266G>T	1.37:g.151372582G>T	ENSP00000290541:p.Arg89Leu		149639206	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654764	0.47467	.	.	ENSG00000159377	ENST00000290541	T	0.23552	1.9	5.34	2.48	0.30137	Proteasome, beta-type subunit, conserved site (1);	0.261003	0.36703	N	0.002445	T	0.09905	0.0243	L	0.37561	1.115	0.40519	D	0.980812	B;B	0.30526	0.283;0.014	B;B	0.35114	0.196;0.021	T	0.06935	-1.0799	10	0.66056	D	0.02	-0.0211	7.6631	0.28415	0.3302:0.0:0.6698:0.0	.	89;89	B4DFL3;P28070	.;PSB4_HUMAN	L	89	ENSP00000290541:R89L	ENSP00000290541:R89L	R	+	2	0	PSMB4	149639206	0.999000	0.42202	0.949000	0.38748	0.619000	0.37552	2.172000	0.42463	0.259000	0.21709	-0.258000	0.10820	CGA		0.537	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		T	151372582	G	T	151372582	3	4	64	1	0	0	0	0	1	0	0	0	12682	1058	37	3	272	3	PSMB4	1	151372582	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09	40783249	151372582	97878039	5	3270											
FLG	2312	genome.wustl.edu	37	1	152275687	152275687	+	Missense_Mutation	SNP	C	C	T	rs372348813		TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr1:152275687C>T	ENST00000368799.1	-	3	11710	c.11675G>A	c.(11674-11676)cGg>cAg	p.R3892Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3892	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R3892L(1)|p.R3892Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGCTCCCGAGAAGATCC	0.542									Ichthyosis																																							2	Substitution - Missense(2)	ovary(1)|endometrium(1)	1											94	98	97					1																	152275687		2203	4300	6503	150542311	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11675G>A	1.37:g.152275687C>T	ENSP00000357789:p.Arg3892Gln		150542311	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.552	-0.091506	0.07053	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	2.17	-4.33	0.03677	.	.	.	.	.	T	0.00328	0.0010	N	0.21194	0.64	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44590	-0.9318	9	0.11485	T	0.65	.	4.368	0.11233	0.0:0.2588:0.323:0.4182	.	3892	P20930	FILA_HUMAN	Q	3892	ENSP00000357789:R3892Q	ENSP00000357789:R3892Q	R	-	2	0	FLG	150542311	0.929000	0.31497	0.000000	0.03702	0.000000	0.00434	-0.243000	0.08915	-1.837000	0.01189	-1.494000	0.00967	CGG		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152275687	C	T	152275687	3	4	64	1	0	0	0	0	1	0	0	0	5922	652	23	1	514	1	FLG	1	152275687	Missense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09	903105	152275687	96974934	6	3271											
CENPF	1063	genome.wustl.edu	37	1	214815522	214815522	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr1:214815522A>G	ENST00000366955.3	+	12	4009	c.3841A>G	c.(3841-3843)Aca>Gca	p.T1281A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.T1281A(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAGTTGTCAACAAGTCAAAA	0.398																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Missense(1)	ovary(1)	1											65	64	64					1																	214815522		2203	4300	6503	212882145	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3841A>G	1.37:g.214815522A>G	ENSP00000355922:p.Thr1281Ala		212882145	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	8.998	0.979336	0.18812	.	.	ENSG00000117724	ENST00000366955	T	0.22539	1.95	4.96	-2.4	0.06583	.	0.410430	0.18039	N	0.153662	T	0.06280	0.0162	.	.	.	0.23598	N	0.997326	B	0.22683	0.073	B	0.19946	0.027	T	0.31280	-0.9949	9	0.09590	T	0.72	.	1.1552	0.01794	0.337:0.2719:0.2583:0.1327	.	1281	P49454	CENPF_HUMAN	A	1281	ENSP00000355922:T1281A	ENSP00000355922:T1281A	T	+	1	0	CENPF	212882145	0.000000	0.05858	0.988000	0.46212	0.845000	0.48019	-2.184000	0.01254	-0.059000	0.13154	0.418000	0.28097	ACA		0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214815522	A	G	214815522	3	3	64	1	0	0	0	0	1	0	0	0	3231	43	2	4	3883	4	CENPF	1	214815522	Missense_Mutation	SNP	A	TCGA-10-0933-01A-01W-0421-09	62539835	214815522	34435099	7	3272											
PGBD2	267002	genome.wustl.edu	37	1	249211970	249211970	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr1:249211970G>C	ENST00000329291.5	+	3	1334	c.1187G>C	c.(1186-1188)gGt>gCt	p.G396A	PGBD2_ENST00000539153.1_Missense_Mutation_p.G393A|PGBD2_ENST00000355360.4_Missense_Mutation_p.G145A	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	396								p.G145A(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGAAGAGGGGTTCATTTGAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											69	71	70					1																	249211970		2203	4300	6503	247178593	SO:0001583	missense	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1187G>C	1.37:g.249211970G>C	ENSP00000331643:p.Gly396Ala		247178593	B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228760	0.39399	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.25579	1.79;1.79;1.79	3.78	2.87	0.33458	.	0.000000	0.52532	D	0.000077	T	0.47078	0.1426	M	0.79693	2.465	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	T	0.22906	-1.0203	10	0.49607	T	0.09	-44.7477	7.2542	0.26166	0.1236:0.0:0.8764:0.0	.	393;396	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	A	145;396;393	ENSP00000355424:G145A;ENSP00000331643:G396A;ENSP00000439950:G393A	ENSP00000331643:G396A	G	+	2	0	PGBD2	247178593	0.998000	0.40836	0.181000	0.23098	0.920000	0.55202	3.309000	0.51903	0.934000	0.37316	0.467000	0.42956	GGT		0.483	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			C	249211970	G	C	249211970	3	2	64	1	0	0	0	0	1	0	0	0	11781	1261	44	3	1193	3	PGBD2	1	249211970	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09	34396448	249211970	38651	8	3273											
ZNF512	84450	genome.wustl.edu	37	2	27821040	27821040	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr2:27821040G>T	ENST00000355467.4	+	3	279	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	ZNF512_ENST00000413371.2_5'UTR|ZNF512_ENST00000556601.1_5'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.D65Y|ZNF512_ENST00000416005.2_Missense_Mutation_p.D65Y|ZNF512_ENST00000494548.1_3'UTR	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D66Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					ACCAGTGAGTGATTTTCCAGC	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											164	140	148					2																	27821040		2203	4300	6503	27674544	SO:0001583	missense	84450			AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"Zinc fingers, C2H2-type"	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.196G>T	2.37:g.27821040G>T	ENSP00000347648:p.Asp66Tyr		27674544	B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866464	0.51588	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000416005	.	.	.	5.82	4.95	0.65309	.	0.365154	0.26734	N	0.022774	T	0.39708	0.1088	N	0.22421	0.69	0.80722	D	1	P;P	0.38922	0.524;0.651	B;B	0.38803	0.282;0.121	T	0.38243	-0.9670	9	0.59425	D	0.04	-8.7417	10.9043	0.47071	0.0861:0.0:0.9139:0.0	.	65;66	B4DSM5;Q96ME7	.;ZN512_HUMAN	Y	65;66;65	.	ENSP00000347648:D66Y	D	+	1	0	ZNF512	27674544	1.000000	0.71417	0.968000	0.41197	0.872000	0.50106	3.193000	0.50997	1.476000	0.48215	-0.140000	0.14226	GAT		0.428	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		T	27821040	G	T	27821040	3	4	64	1	0	0	0	0	1	0	0	0	17956	1290	45	3	206	3	ZNF512	2	27821040	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09		27821040	215378333	9	3274											
COL6A3	1293	genome.wustl.edu	37	2	238285464	238285464	+	Silent	SNP	T	T	C	rs201085369		TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr2:238285464T>C	ENST00000295550.4	-	7	3473	c.3021A>G	c.(3019-3021)ccA>ccG	p.P1007P	COL6A3_ENST00000353578.4_Silent_p.P801P|COL6A3_ENST00000346358.4_Silent_p.P807P|COL6A3_ENST00000392003.2_Silent_p.P600P|COL6A3_ENST00000392004.3_Silent_p.P801P|COL6A3_ENST00000409809.1_Silent_p.P801P|COL6A3_ENST00000472056.1_Silent_p.P400P|COL6A3_ENST00000347401.3_Silent_p.P806P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1007	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1007P(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACTATCTGTGGATGAAGAT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	2											224	224	224					2																	238285464		2203	4300	6503	237950203	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3021A>G	2.37:g.238285464T>C			237950203	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.488	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238285464	T	C	238285464	2	2	64	1	0	0	0	0	0	0	0	1	3701	1683	59	4		4	COL6A3	2	238285464	Silent	SNP	T	TCGA-10-0933-01A-01W-0421-09	210464424	238285464	4913909	10	3275											
RHOA	387	genome.wustl.edu	37	3	49405912	49405912	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr3:49405912C>T	ENST00000418115.1	-	3	610	c.226G>A	c.(226-228)Gat>Aat	p.D76N	RHOA_ENST00000422781.1_Missense_Mutation_p.D76N|RHOA_ENST00000454011.2_Intron|RHOA-IT1_ENST00000428083.1_RNA	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	76					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.D76N(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACATCGGTATCTGGGTAGGAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											153	145	148					3																	49405912		2203	4300	6503	49380916	SO:0001583	missense	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.226G>A	3.37:g.49405912C>T	ENSP00000400175:p.Asp76Asn		49380916	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502925	0.96371	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	T;T;T	0.76968	-1.06;-1.06;-1.06	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	N	0.17082	0.46	0.80722	D	1	B	0.28233	0.204	P	0.62813	0.907	D	0.84334	0.0523	10	0.87932	D	0	.	18.6067	0.91268	0.0:1.0:0.0:0.0	.	76	P61586	RHOA_HUMAN	N	76	ENSP00000400175:D76N;ENSP00000413587:D76N;ENSP00000408402:D76N	ENSP00000400175:D76N	D	-	1	0	RHOA	49380916	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.675000	0.84002	2.749000	0.94314	0.551000	0.68910	GAT		0.493	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		T	49405912	C	T	49405912	3	4	64	1	0	0	0	0	1	0	0	0	13334	913	32	2	367	2	RHOA	3	49405912	Missense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09		49405912	148616518	11	3276											
PTPRG	5793	genome.wustl.edu	37	3	61734583	61734583	+	Silent	SNP	C	C	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr3:61734583C>T	ENST00000474889.1	+	2	494	c.117C>T	c.(115-117)caC>caT	p.H39H	PTPRG_ENST00000295874.10_Silent_p.H39H|PTPRG_ENST00000495879.1_3'UTR	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	39					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H39H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGGCCCTGCACGAGAATAGAC	0.557																																																1	Substitution - coding silent(1)	ovary(1)	3											112	104	107					3																	61734583		2203	4300	6503	61709623	SO:0001819	synonymous_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.117C>T	3.37:g.61734583C>T			61709623	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	CCDS2895.1																																																																																				0.557	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		T	61734583	C	T	61734583	2	4	64	1	0	0	0	0	0	0	0	1	12805	535	19	1		1	PTPRG	3	61734583	Silent	SNP	C	TCGA-10-0933-01A-01W-0421-09	12328671	61734583	136287847	12	3277											
UGT8	7368	genome.wustl.edu	37	4	115544519	115544519	+	Silent	SNP	C	C	T	rs368584974		TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr4:115544519C>T	ENST00000310836.6	+	2	1005	c.483C>T	c.(481-483)ggC>ggT	p.G161G	UGT8_ENST00000394511.3_Silent_p.G161G	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	161					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.G161G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTTCAACTGGCCTTTGGTATC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	4											137	133	134					4																	115544519		2203	4300	6503	115763968	SO:0001819	synonymous_variant	7368			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.483C>T	4.37:g.115544519C>T			115763968	B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	CCDS3705.1																																																																																				0.443	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		T	115544519	C	T	115544519	2	4	64	1	0	0	0	0	0	0	0	1	16965	726	26	2		2	UGT8	4	115544519	Silent	SNP	C	TCGA-10-0933-01A-01W-0421-09		115544519	75609757	13	3278											
HHIP	64399	genome.wustl.edu	37	4	145633225	145633225	+	Splice_Site	SNP	T	T	C			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr4:145633225T>C	ENST00000296575.3	+	8	2078		c.e8+2			NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein						carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAGATTATGGTATGTAGAGCA	0.318																																																1	Unknown(1)	ovary(1)	4											110	111	110					4																	145633225		2203	4300	6503	145852675	SO:0001630	splice_region_variant	64399			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1423+2T>C	4.37:g.145633225T>C			145852675	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Splice_Site	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017083	0.75161	.	.	ENSG00000164161	ENST00000296575	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0467	0.80725	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HHIP	145852675	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	7.513000	0.81739	2.182000	0.69389	0.533000	0.62120	.		0.318	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		Intron	C	145633225	T	C	145633225	5	2	64	1	0	0	0	0	0	0	1	0	7092	1652	57	4	1455	4	HHIP	4	145633225	Splice_Site	SNP	T	TCGA-10-0933-01A-01W-0421-09	30088706	145633225	45521051	14	3279											
CENPQ	55166	genome.wustl.edu	37	6	49439884	49439884	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr6:49439884A>G	ENST00000335783.3	+	4	360	c.266A>G	c.(265-267)gAa>gGa	p.E89G		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	89					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E89G(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					ACTATGATGGAATCAGTAATA	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											139	138	138					6																	49439884		2203	4300	6503	49547843	SO:0001583	missense	55166			AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"chromosome 6 open reading frame 139"	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.266A>G	6.37:g.49439884A>G	ENSP00000337289:p.Glu89Gly		49547843	A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238850	0.58995	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.37915	1.17	5.0	5.0	0.66597	.	0.116367	0.56097	D	0.000029	T	0.26991	0.0661	L	0.56769	1.78	0.33312	D	0.566227	D	0.54047	0.964	P	0.47981	0.563	T	0.10382	-1.0632	10	0.29301	T	0.29	-12.2972	12.5096	0.55999	1.0:0.0:0.0:0.0	.	89	Q7L2Z9	CENPQ_HUMAN	G	89	ENSP00000337289:E89G	ENSP00000337289:E89G	E	+	2	0	CENPQ	49547843	0.994000	0.37717	0.986000	0.45419	0.899000	0.52679	4.246000	0.58740	2.226000	0.72624	0.472000	0.43445	GAA		0.353	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		G	49439884	A	G	49439884	3	3	64	1	0	0	0	0	1	0	0	0	3241	246	9	4	276	4	CENPQ	6	49439884	Missense_Mutation	SNP	A	TCGA-10-0933-01A-01W-0421-09		49439884	121675183	15	3280											
AKD1	221264	genome.wustl.edu	37	6	109995410	109995410	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr6:109995410G>T	ENST00000424296.2	-	3	248	c.172C>A	c.(172-174)Cgt>Agt	p.R58S	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.R58S|AK9_ENST00000368948.2_Missense_Mutation_p.R58S	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	58	Adenylate kinase 1.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.R58S(1)									CCTTCAACACGAATACATTTC	0.289																																																1	Substitution - Missense(1)	ovary(1)	6											49	45	46					6																	109995410		2203	4296	6499	110102103	SO:0001583	missense	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.172C>A	6.37:g.109995410G>T	ENSP00000410186:p.Arg58Ser		110102103	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111389	0.77210	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000532976	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.66	4.78	0.61160	ATPase, AAA+ type, core (1);	0.418399	0.27164	N	0.020637	T	0.65460	0.2693	N	0.24115	0.695	0.80722	D	1	P;D	0.57571	0.934;0.98	B;P	0.57846	0.433;0.828	T	0.66015	-0.6028	9	.	.	.	-3.373	7.6807	0.28511	0.1728:0.0:0.8272:0.0	.	58;58	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	S	58	ENSP00000410186:R58S;ENSP00000357944:R58S;ENSP00000285397:R58S;ENSP00000436325:R58S	.	R	-	1	0	AKD1	110102103	0.993000	0.37304	0.997000	0.53966	0.998000	0.95712	1.941000	0.40233	2.666000	0.90696	0.650000	0.86243	CGT		0.289	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		T	109995410	G	T	109995410	3	4	64	1	0	0	0	0	1	0	0	0	460	1058	37	3	5731	3	AKD1	6	109995410	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09	60555526	109995410	61119657	16	3281											
ZFAND2A	90637	genome.wustl.edu	37	7	1192813	1192813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr7:1192813delC	ENST00000316495.3	-	5	589	c.330delG	c.(328-330)atgfs	p.M110fs	ZFAND2A_ENST00000401903.1_Frame_Shift_Del_p.M110fs	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	110					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)	p.M110fs>36(1)		lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCATCTGCAGCATCTCTTTCT	0.478																																																1	Deletion - Frameshift(1)	ovary(1)	7											164	127	139					7																	1192813		2203	4300	6503	1159339	SO:0001589	frameshift_variant	90637			BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"Zinc fingers, AN1-type domain containing"	28073	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein"	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.330delG	7.37:g.1192813delC	ENSP00000314619:p.Met110fs		1159339	A4D220	Frame_Shift_Del	DEL	ENST00000316495.3	37	CCDS5323.1																																																																																				0.478	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		-	1192813	C	-	1192813	7	5	64	1	0	1	0	1	0	0	0	0	17627	710	25	0	111	0	ZFAND2A	7	1192813	Frame_Shift_Del	DEL	C	TCGA-10-0933-01A-01W-0421-09		1192813	157945850	17	3282											
BNC2	54796	genome.wustl.edu	37	9	16437049	16437049	+	Silent	SNP	T	T	C			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr9:16437049T>C	ENST00000380672.4	-	6	1200	c.1143A>G	c.(1141-1143)acA>acG	p.T381T	BNC2_ENST00000545497.1_Silent_p.T286T|BNC2_ENST00000380667.2_Silent_p.T314T|BNC2_ENST00000380666.2_Silent_p.T381T	NM_017637.5	NP_060107.3			basonuclin 2									p.T381T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCTATTGGGTGTTTGATCAT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	9											117	119	118					9																	16437049		2203	4300	6503	16427049	SO:0001819	synonymous_variant	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1143A>G	9.37:g.16437049T>C			16427049		Silent	SNP	ENST00000380672.4	37	CCDS6482.2																																																																																				0.478	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		C	16437049	T	C	16437049	2	2	64	1	0	0	0	0	0	0	0	1	1475	1683	59	4		4	BNC2	9	16437049	Silent	SNP	T	TCGA-10-0933-01A-01W-0421-09		16437049	124776382	18	3283											
MLLT3	4300	genome.wustl.edu	37	9	20414188	20414188	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr9:20414188T>C	ENST00000380338.4	-	5	942	c.656A>G	c.(655-657)aAa>aGa	p.K219R	MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.K216R|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	219					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.K219R(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GGAAGGTTCTTTGAAGGCACT	0.388			T	MLL	ALL																																		Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	1	Substitution - Missense(1)	ovary(1)	9											252	269	263					9																	20414188		2203	4300	6503	20404188	SO:0001583	missense	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.656A>G	9.37:g.20414188T>C	ENSP00000369695:p.Lys219Arg		20404188	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.759623	0.31137	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.48	5.48	0.80851	.	0.044318	0.85682	D	0.000000	T	0.54515	0.1863	L	0.39147	1.195	0.80722	D	1	B;B	0.17465	0.022;0.022	B;B	0.14578	0.011;0.011	T	0.49890	-0.8891	9	0.34782	T	0.22	-15.1527	15.5535	0.76173	0.0:0.0:0.0:1.0	.	216;219	B7Z755;P42568	.;AF9_HUMAN	R	219;216;258	.	ENSP00000369695:K219R	K	-	2	0	MLLT3	20404188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.875000	0.69660	2.077000	0.62373	0.482000	0.46254	AAA		0.388	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		C	20414188	T	C	20414188	3	2	64	1	0	0	0	0	1	0	0	0	9628	1841	64	4	1078	4	MLLT3	9	20414188	Missense_Mutation	SNP	T	TCGA-10-0933-01A-01W-0421-09	3977139	20414188	120799243	19	3284											
DNM1	1759	genome.wustl.edu	37	9	131012488	131012488	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr9:131012488G>A	ENST00000372923.3	+	20	2263	c.2171G>A	c.(2170-2172)cGg>cAg	p.R724Q	DNM1_ENST00000341179.7_Missense_Mutation_p.R724Q|DNM1_ENST00000393594.3_Missense_Mutation_p.R724Q|DNM1_ENST00000486160.1_Missense_Mutation_p.R724Q|DNM1_ENST00000475805.1_Missense_Mutation_p.R724Q	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	724	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.R724Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CAGGCACAGCGGCGCGACGAG	0.637																																					GBM(113;146 1575 2722 28670 29921)											1	Substitution - Missense(1)	ovary(1)	9											45	33	37					9																	131012488		2203	4300	6503	130052309	SO:0001583	missense	1759			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2171G>A	9.37:g.131012488G>A	ENSP00000362014:p.Arg724Gln		130052309	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.993663	0.74703	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.52	4.52	0.55395	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.221539	0.40302	N	0.001128	T	0.50154	0.1599	M	0.78344	2.41	0.51012	D	0.999906	B;B;P	0.40794	0.161;0.133;0.729	B;B;B	0.34452	0.062;0.037;0.183	T	0.60697	-0.7212	10	0.72032	D	0.01	-18.3293	10.9943	0.47567	0.0863:0.0:0.9137:0.0	.	724;724;663	Q05193;Q05193-3;B4DHH5	DYN1_HUMAN;.;.	Q	724;724;724;724;724;269	ENSP00000419225:R724Q;ENSP00000345680:R724Q;ENSP00000362014:R724Q;ENSP00000377219:R724Q;ENSP00000420045:R724Q	ENSP00000345680:R724Q	R	+	2	0	DNM1	130052309	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.167000	0.58209	2.340000	0.79590	0.542000	0.68232	CGG		0.637	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		A	131012488	G	A	131012488	3	1	64	1	0	0	0	0	1	0	0	0	4670	1116	39	1	2244	1	DNM1	9	131012488	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09	110598300	131012488	10200943	20	3285											
CPXM2	119587	genome.wustl.edu	37	10	125506320	125506320	+	Missense_Mutation	SNP	C	C	T	rs149753704	byFrequency	TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr10:125506320C>T	ENST00000241305.3	-	14	2385	c.2231G>A	c.(2230-2232)cGg>cAg	p.R744Q	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	744					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R744Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CAGCTTCAGCCGCCTGGCTGG	0.577													C|||	2	0.000399361	0	0	5008	,	,		17511	0.002		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	10											56	60	59					10																	125506320		2203	4300	6503	125496310	SO:0001583	missense	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2231G>A	10.37:g.125506320C>T	ENSP00000241305:p.Arg744Gln		125496310	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	14.74	2.626698	0.46840	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.96073	-3.9	4.98	3.14	0.36123	Carboxypeptidase-like, regulatory domain (1);	0.272369	0.35013	N	0.003510	D	0.89691	0.6788	L	0.38175	1.15	0.80722	D	1	B	0.30021	0.265	B	0.21151	0.033	D	0.83724	0.0194	10	0.18276	T	0.48	-32.4176	9.6545	0.39917	0.0:0.8401:0.0:0.1599	.	744	Q8N436	CPXM2_HUMAN	Q	744;577;719	ENSP00000241305:R744Q	ENSP00000241305:R744Q	R	-	2	0	CPXM2	125496310	1.000000	0.71417	0.640000	0.29408	0.971000	0.66376	3.127000	0.50484	0.694000	0.31654	0.655000	0.94253	CGG		0.577	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		T	125506320	C	T	125506320	3	4	64	1	0	0	0	0	1	0	0	0	3838	652	23	1	43	1	CPXM2	10	125506320	Missense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09		125506320	10028427	21	3286											
RCE1	9986	genome.wustl.edu	37	11	66611281	66611282	+	Frame_Shift_Del	DEL	CA	CA	-	rs71457743	byFrequency	TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	CA	CA	CA	-	CA	CA	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr11:66611281_66611282delCA	ENST00000309657.3	+	2	281_282	c.237_238delCA	c.(235-240)tccagtfs	p.SS79fs	RCE1_ENST00000534645.1_3'UTR|RCE1_ENST00000525356.1_5'UTR|RCE1_ENST00000524506.1_Frame_Shift_Del_p.SS79fs	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	79					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)	p.S82fs*59(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TGGTGGTGTCCAGTCTCTCACC	0.653																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								66367858	SO:0001589	frameshift_variant	9986			AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.237_238delCA	11.37:g.66611281_66611282delCA	ENSP00000309163:p.Ser79fs		66367857	Q52LZ9	Frame_Shift_Del	DEL	ENST00000309657.3	37	CCDS8151.1																																																																																				0.653	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		-	66611282	CA	-	66611281	7	5	64	1	0	1	0	1	0	0	0	0	13179	581	21	0	243	0	RCE1	11	66611281	Frame_Shift_Del	DEL	CA	TCGA-10-0933-01A-01W-0421-09		66611281	68395235	22	3287											
OVCH1	341350	genome.wustl.edu	37	12	29592274	29592274	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr12:29592274C>A	ENST00000318184.5	-	26	3250	c.3251G>T	c.(3250-3252)tGg>tTg	p.W1084L	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1084						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.W1084L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					tgaattttcccatatatgcat	0.299																																																1	Substitution - Missense(1)	ovary(1)	12											79	73	75					12																	29592274		1806	4069	5875	29483541	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.3251G>T	12.37:g.29592274C>A	ENSP00000326708:p.Trp1084Leu		29483541		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	5.178	0.218371	0.09810	.	.	ENSG00000187950	ENST00000318184	D	0.86694	-2.16	0.427	-0.854	0.10705	.	.	.	.	.	T	0.70090	0.3184	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56475	-0.7973	8	0.87932	D	0	.	.	.	.	.	1084	Q7RTY7	OVCH1_HUMAN	L	1084	ENSP00000326708:W1084L	ENSP00000326708:W1084L	W	-	2	0	OVCH1	29483541	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	0.679000	0.25291	-0.696000	0.05098	-0.706000	0.03657	TGG		0.299	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		A	29592274	C	A	29592274	3	1	64	1	0	0	0	0	1	0	0	0	11323	595	21	3	165	3	OVCH1	12	29592274	Missense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09		29592274	104259621	23	3288											
ZFC3H1	196441	genome.wustl.edu	37	12	72036246	72036246	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr12:72036246T>C	ENST00000378743.3	-	6	1955	c.1597A>G	c.(1597-1599)Atg>Gtg	p.M533V	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	533					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.M533V(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTGTATCCATAGCAACTTCT	0.373																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	12											172	156	161					12																	72036246		1852	4096	5948	70322513	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1597A>G	12.37:g.72036246T>C	ENSP00000368017:p.Met533Val		70322513	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432938	0.83776	.	.	ENSG00000133858	ENST00000378743	T	0.49720	0.77	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	N	0.24115	0.695	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.46527	-0.9185	10	0.27082	T	0.32	.	15.5877	0.76499	0.0:0.0:0.0:1.0	.	533	O60293	ZC3H1_HUMAN	V	533	ENSP00000368017:M533V	ENSP00000368017:M533V	M	-	1	0	ZFC3H1	70322513	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.116000	0.77119	2.099000	0.63709	0.454000	0.30748	ATG		0.373	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		C	72036246	T	C	72036246	3	2	64	1	0	0	0	0	1	0	0	0	17633	1406	49	4	4492	4	ZFC3H1	12	72036246	Missense_Mutation	SNP	T	TCGA-10-0933-01A-01W-0421-09	42443972	72036246	61815649	24	3289											
DTX1	1840	genome.wustl.edu	37	12	113534673	113534673	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr12:113534673G>A	ENST00000257600.3	+	9	2295	c.1792G>A	c.(1792-1794)Gct>Act	p.A598T	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	598					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A598T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTACCCGGACGCTAGCTACCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	12											71	52	58					12																	113534673		2203	4300	6503	112019056	SO:0001583	missense	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1792G>A	12.37:g.113534673G>A	ENSP00000257600:p.Ala598Thr		112019056	O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187534	0.57909	.	.	ENSG00000135144	ENST00000257600	T	0.45668	0.89	4.99	4.08	0.47627	.	0.121926	0.56097	D	0.000033	T	0.26376	0.0644	N	0.15975	0.35	0.40040	D	0.975641	B	0.16603	0.018	B	0.10450	0.005	T	0.12604	-1.0541	10	0.62326	D	0.03	-7.7338	11.3517	0.49592	0.0:0.4068:0.5932:0.0	.	598	Q86Y01	DTX1_HUMAN	T	598	ENSP00000257600:A598T	ENSP00000257600:A598T	A	+	1	0	DTX1	112019056	0.998000	0.40836	0.938000	0.37757	0.683000	0.39861	2.012000	0.40932	2.306000	0.77630	0.561000	0.74099	GCT		0.637	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			A	113534673	G	A	113534673	3	1	64	1	0	0	0	0	1	0	0	0	4793	1087	38	1	1826	1	DTX1	12	113534673	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09	41498427	113534673	20317222	25	3290											
RB1	5925	genome.wustl.edu	37	13	49039374	49039374	+	Nonsense_Mutation	SNP	C	C	T	rs137853293		TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr13:49039374C>T	ENST00000267163.4	+	23	2497	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	787	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R787*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCACATTCCTCGAAGCCCTTA	0.393		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	30	Whole gene deletion(15)|Unknown(11)|Substitution - Nonsense(4)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)|oesophagus(1)|ovary(1)|prostate(1)|liver(1)	13	GRCh37	CM900196	RB1	M	rs137853293						155	160	158					13																	49039374		2203	4300	6503	47937375	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2359C>T	13.37:g.49039374C>T	ENSP00000267163:p.Arg787*		47937375	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630709	0.98399	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.87	5.87	0.94306	.	0.072182	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6067	0.62052	0.271:0.729:0.0:0.0	.	.	.	.	X	766;787	.	ENSP00000267163:R787X	R	+	1	2	RB1	47937375	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.152000	0.42272	2.779000	0.95612	0.591000	0.81541	CGA		0.393	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	49039374	C	T	49039374	4	4	64	1	0	0	0	0	0	1	0	0	13101	876	31	1	2449	1	RB1	13	49039374	Nonsense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09		49039374	66130504	26	3291											
SGK269	79834	genome.wustl.edu	37	15	77425831	77425831	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr15:77425831C>T	ENST00000560626.2	-	6	4068	c.3593G>A	c.(3592-3594)aGt>aAt	p.S1198N	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1198N			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1198					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S1198N(2)									AGAACCAGCACTGCTGGCATC	0.493																																																2	Substitution - Missense(2)	ovary(2)	15											89	93	91					15																	77425831		1920	4121	6041	75212886	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3593G>A	15.37:g.77425831C>T	ENSP00000452796:p.Ser1198Asn		75212886	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795186	0.90453	.	.	ENSG00000173517	ENST00000312493	T	0.70631	-0.5	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.29908	0.895	0.51233	D	0.99991	D	0.76494	0.999	D	0.80764	0.994	T	0.66893	-0.5808	10	0.09590	T	0.72	-4.6532	18.0479	0.89338	0.0:1.0:0.0:0.0	.	1198	Q9H792	PEAK1_HUMAN	N	1198	ENSP00000309230:S1198N	ENSP00000309230:S1198N	S	-	2	0	AC087465.1	75212886	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.123000	0.77176	2.709000	0.92574	0.655000	0.94253	AGT		0.493	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			T	77425831	C	T	77425831	3	4	64	1	0	0	0	0	1	0	0	0	14214	565	20	2	1655	2	SGK269	15	77425831	Missense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09		77425831	25105561	27	3292											
ABCC12	94160	genome.wustl.edu	37	16	48141235	48141235	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr16:48141235G>A	ENST00000311303.3	-	18	2818	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.R822W	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	825	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R825W(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AAACTCACCCGTGAGCCCTTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	16											123	119	121					16																	48141235		2201	4300	6501	46698736	SO:0001583	missense	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2473C>T	16.37:g.48141235G>A	ENSP00000311030:p.Arg825Trp		46698736	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336801	0.60963	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.48836	0.8;0.8	5.41	2.11	0.27256	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.482208	0.21872	N	0.067872	T	0.30792	0.0776	N	0.24115	0.695	0.80722	D	1	P	0.44816	0.844	B	0.39068	0.289	T	0.09729	-1.0661	10	0.66056	D	0.02	.	9.4648	0.38806	0.0:0.5357:0.339:0.1253	.	825	Q96J65	MRP9_HUMAN	W	825;822;743	ENSP00000311030:R825W;ENSP00000401855:R822W	ENSP00000311030:R825W	R	-	1	2	ABCC12	46698736	0.004000	0.15560	0.358000	0.25811	0.531000	0.34715	0.173000	0.16724	0.571000	0.29365	0.557000	0.71058	CGG		0.552	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		A	48141235	G	A	48141235	3	1	64	1	0	0	0	0	1	0	0	0	52	1144	40	1	1654	1	ABCC12	16	48141235	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09		48141235	42213518	28	3293											
CAMTA2	23125	genome.wustl.edu	37	17	4883707	4883707	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr17:4883707G>T	ENST00000348066.3	-	9	1033	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	CAMTA2_ENST00000381311.5_Missense_Mutation_p.P306T|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P327T|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P309T|CAMTA2_ENST00000361571.5_Missense_Mutation_p.P303T|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P304T	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	304					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.P304T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATTTCTAGGGGCTCTGCAAAA	0.587											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	17											38	42	41					17																	4883707		2203	4300	6503	4824431	SO:0001583	missense	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.910C>A	17.37:g.4883707G>T	ENSP00000321813:p.Pro304Thr	622	4824431	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511452	0.44660	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.58	4.58	0.56647	.	0.226294	0.31167	N	0.008134	T	0.50905	0.1643	L	0.27053	0.805	0.31889	N	0.617444	D;D;D;D	0.89917	0.999;1.0;0.999;0.99	D;D;D;D	0.83275	0.991;0.996;0.991;0.935	T	0.57642	-0.7776	10	0.49607	T	0.09	-15.8905	14.9162	0.70798	0.0:0.0:1.0:0.0	.	327;306;304;303	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	T	327;306;303;304;304	ENSP00000412886:P327T;ENSP00000370712:P306T;ENSP00000354828:P303T;ENSP00000350910:P304T;ENSP00000321813:P304T	ENSP00000321813:P304T	P	-	1	0	CAMTA2	4824431	1.000000	0.71417	0.996000	0.52242	0.732000	0.41865	2.824000	0.48088	2.382000	0.81193	0.650000	0.86243	CCC		0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		T	4883707	G	T	4883707	3	4	64	1	0	0	0	0	1	0	0	0	2614	1203	42	3	2808	3	CAMTA2	17	4883707	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09		4883707	76311503	29	3294											
TTYH2	94015	genome.wustl.edu	37	17	72248453	72248453	+	Silent	SNP	C	C	T	rs145446841	byFrequency	TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr17:72248453C>T	ENST00000269346.4	+	11	1271	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A	TTYH2_ENST00000529107.1_Silent_p.A378A|TTYH2_ENST00000441391.2_Silent_p.A78A	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	399						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.A399A(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCTTCCTGGCCGCCCTCGCCT	0.617																																																1	Substitution - coding silent(1)	ovary(1)	17						C	,	11,4395	19.1+/-41.9	0,11,2192	105	86	92		1197,234	-11.6	0.2	17	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TTYH2	NM_032646.5,NM_052869.1	,	0,13,6490	TT,TC,CC		0.0233,0.2497,0.1	,	399/535,78/214	72248453	13,12993	2203	4300	6503	69760048	SO:0001819	synonymous_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1197C>T	17.37:g.72248453C>T			69760048	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.617	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			T	72248453	C	T	72248453	2	4	64	1	0	0	0	0	0	0	0	1	16740	639	23	1		1	TTYH2	17	72248453	Silent	SNP	C	TCGA-10-0933-01A-01W-0421-09	67364746	72248453	8946757	30	3295											
MUC16	94025	genome.wustl.edu	37	19	9073638	9073638	+	Missense_Mutation	SNP	C	C	T	rs201713021	byFrequency	TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr19:9073638C>T	ENST00000397910.4	-	3	14011	c.13808G>A	c.(13807-13809)cGa>cAa	p.R4603Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4605	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R4603Q(3)|p.R236Q(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCTCTTTTCGTCCAGCAGT	0.502													C|||	3	0.000599042	0.0023	0	5008	,	,		20960	0		0	False		,,,				2504	0															5	Substitution - Missense(5)	lung(3)|ovary(2)	19						C	GLN/ARG	19,3967		1,17,1975	93	88	90		13808	-0.8	0	19		90	1,8343		0,1,4171	yes	missense	MUC16	NM_024690.2	43	1,18,6146	TT,TC,CC		0.012,0.4767,0.1622	benign	4603/14508	9073638	20,12310	1993	4172	6165	8934638	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13808G>A	19.37:g.9073638C>T	ENSP00000381008:p.Arg4603Gln		8934638	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.656	-0.280750	0.05642	0.004767	1.2E-4	ENSG00000181143	ENST00000397910	T	0.02812	4.15	1.63	-0.829	0.10796	.	.	.	.	.	T	0.01222	0.0040	N	0.02011	-0.69	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.44862	-0.9300	8	0.87932	D	0	.	3.5428	0.07818	0.3197:0.4572:0.0:0.2231	.	4603	B5ME49	.	Q	4603	ENSP00000381008:R4603Q	ENSP00000381008:R4603Q	R	-	2	0	MUC16	8934638	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.445000	0.02401	-0.818000	0.04329	-1.786000	0.00637	CGA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9073638	C	T	9073638	3	4	64	1	0	0	0	0	1	0	0	0	9973	884	31	1	30043	1	MUC16	19	9073638	Missense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09		9073638	50055345	31	3296											
DYRK1B	9149	genome.wustl.edu	37	19	40321331	40321331	+	Silent	SNP	G	G	A			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr19:40321331G>A	ENST00000593685.1	-	3	624	c.156C>T	c.(154-156)ctC>ctT	p.L52L	DYRK1B_ENST00000323039.5_Silent_p.L52L|DYRK1B_ENST00000348817.3_Silent_p.L52L|DYRK1B_ENST00000430012.2_Silent_p.L52L|DYRK1B_ENST00000601972.1_Silent_p.L52L|DYRK1B_ENST00000597639.1_Silent_p.L52L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	52					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.L52L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGGTCTTGATGAGGTCCACAG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	19											82	76	78					19																	40321331		2203	4300	6503	45013171	SO:0001819	synonymous_variant	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.156C>T	19.37:g.40321331G>A			45013171	O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	CCDS12543.1																																																																																				0.627	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		A	40321331	G	A	40321331	2	1	64	1	0	0	0	0	0	0	0	1	4855	1277	45	2		2	DYRK1B	19	40321331	Silent	SNP	G	TCGA-10-0933-01A-01W-0421-09	31247693	40321331	18807652	32	3297											
SAE1	10055	genome.wustl.edu	37	19	47673151	47673151	+	Missense_Mutation	SNP	G	G	A	rs538083905		TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr19:47673151G>A	ENST00000270225.7	+	6	772	c.704G>A	c.(703-705)cGc>cAc	p.R235H	SAE1_ENST00000598840.1_Missense_Mutation_p.R154H|SAE1_ENST00000540850.1_Missense_Mutation_p.R61H|SAE1_ENST00000413379.3_Missense_Mutation_p.R235H|SAE1_ENST00000392776.3_Missense_Mutation_p.R235H	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	235					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)	p.R235H(1)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GCTCTGAAGCGCACGACCTCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	19											133	121	125					19																	47673151		2203	4300	6503	52364991	SO:0001583	missense	10055			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"Ubiquitin-like modifier activating enzymes"	30660	protein-coding gene	gene with protein product	"activator Of sumo 1"	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.704G>A	19.37:g.47673151G>A	ENSP00000270225:p.Arg235His		52364991	B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374010	0.42105	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000540850;ENST00000414294	T;T;T;T;T	0.75821	-0.85;0.85;-0.88;0.85;-0.97	5.73	5.73	0.89815	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.159126	0.52532	D	0.000079	D	0.85004	0.5598	M	0.84773	2.715	0.54753	D	0.999986	B;D;P;B	0.76494	0.196;0.999;0.774;0.055	B;P;B;B	0.61477	0.068;0.889;0.308;0.022	D	0.85892	0.1429	10	0.54805	T	0.06	.	12.3892	0.55348	0.0781:0.0:0.9219:0.0	.	61;235;235;235	B4DY66;G3XAK6;F5GXX7;Q9UBE0	.;.;.;SAE1_HUMAN	H	235;235;235;61;235	ENSP00000416557:R235H;ENSP00000270225:R235H;ENSP00000440818:R235H;ENSP00000440955:R61H;ENSP00000398818:R235H	ENSP00000270225:R235H	R	+	2	0	SAE1	52364991	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	4.364000	0.59479	2.868000	0.98415	0.555000	0.69702	CGC		0.512	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		A	47673151	G	A	47673151	3	1	64	1	0	0	0	0	1	0	0	0	13808	1087	38	1	726	1	SAE1	19	47673151	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09	7351820	47673151	11455832	33	3298											
NLRP8	126205	genome.wustl.edu	37	19	56466123	56466123	+	Silent	SNP	C	C	T	rs377108884		TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr19:56466123C>T	ENST00000291971.3	+	3	770	c.699C>T	c.(697-699)taC>taT	p.Y233Y	NLRP8_ENST00000590542.1_Silent_p.Y233Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	233	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.Y233Y(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACAAGTTCTACGCCCACAAGC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	19						C		0,4406		0,0,2203	104	88	94		699	0.9	0.2	19		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		233/1049	56466123	1,13005	2203	4300	6503	61157935	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.699C>T	19.37:g.56466123C>T			61157935	Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1																																																																																				0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56466123	C	T	56466123	2	4	64	1	0	0	0	0	0	0	0	1	10483	547	19	1		1	NLRP8	19	56466123	Silent	SNP	C	TCGA-10-0933-01A-01W-0421-09	8792972	56466123	2662860	34	3299											
VPS16	64601	genome.wustl.edu	37	20	2847206	2847206	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr20:2847206G>A	ENST00000380445.3	+	24	2578	c.2506G>A	c.(2506-2508)Gcc>Acc	p.A836T	PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.A522T|VPS16_ENST00000380469.3_Missense_Mutation_p.A692T	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	836					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.A836T(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CAGGGCACAAGCCCAGAAGAA	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											111	108	109					20																	2847206		2203	4300	6503	2795206	SO:0001583	missense	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2506G>A	20.37:g.2847206G>A	ENSP00000369810:p.Ala836Thr		2795206	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892599	0.52121	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.44482	0.93;0.93;0.92	5.22	4.28	0.50868	.	0.429955	0.26812	N	0.022361	T	0.21267	0.0512	N	0.08118	0	0.80722	D	1	B;B;B;B	0.26363	0.004;0.147;0.058;0.004	B;B;B;B	0.17433	0.001;0.018;0.015;0.001	T	0.07121	-1.0789	10	0.66056	D	0.02	-8.4563	7.7885	0.29106	0.1815:0.0:0.8185:0.0	.	312;522;692;836	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	T	836;692;522	ENSP00000369810:A836T;ENSP00000369836:A692T;ENSP00000369808:A522T	ENSP00000369808:A522T	A	+	1	0	VPS16	2795206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.606000	0.24194	1.432000	0.47375	0.561000	0.74099	GCC		0.587	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		A	2847206	G	A	2847206	3	1	64	1	0	0	0	0	1	0	0	0	17193	971	34	2	2600	2	VPS16	20	2847206	Missense_Mutation	SNP	G	TCGA-10-0933-01A-01W-0421-09		2847206	60178314	35	3300											
C20orf160	140706	genome.wustl.edu	37	20	30610463	30610463	+	Splice_Site	SNP	G	G	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr20:30610463G>T	ENST00000300415.8	+	6	947	c.934G>T	c.(934-936)Gac>Tac	p.D312Y	CCM2L_ENST00000262659.8_Splice_Site_p.D312Y			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	312								p.D312Y(1)									CCTGGGCCAGGACGCTGCAGA	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											140	131	134					20																	30610463		2203	4300	6503	30074124	SO:0001630	splice_region_variant	140706			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.934-1G>T	20.37:g.30610463G>T			30074124	Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.966525	0.74131	.	.	ENSG00000101331	ENST00000300415;ENST00000262659;ENST00000452892	T;T;T	0.51325	1.58;0.71;1.58	5.41	5.41	0.78517	.	0.101878	0.64402	D	0.000004	T	0.67192	0.2867	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.66011	-0.6029	9	.	.	.	-26.3884	17.7483	0.88427	0.0:0.0:1.0:0.0	.	312	Q9NUG4-2	.	Y	312;312;65	ENSP00000300415:D312Y;ENSP00000262659:D312Y;ENSP00000392448:D65Y	.	D	+	1	0	C20orf160	30074124	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	9.299000	0.96137	2.536000	0.85505	0.462000	0.41574	GAC		0.547	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625	Missense_Mutation	T	30610463	G	T	30610463	5	4	64	1	0	0	0	0	0	0	1	0	2093	1188	41	3	956	3	C20orf160	20	30610463	Splice_Site	SNP	G	TCGA-10-0933-01A-01W-0421-09	27763257	30610463	32415057	36	3301											
ATP9A	10079	genome.wustl.edu	37	20	50292692	50292692	+	Missense_Mutation	SNP	A	A	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chr20:50292692A>T	ENST00000338821.5	-	10	1119	c.855T>A	c.(853-855)aaT>aaA	p.N285K	ATP9A_ENST00000311637.5_Missense_Mutation_p.N149K|ATP9A_ENST00000402822.1_Missense_Mutation_p.N164K	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	285					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N285K(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GATTTGAGGTATTCATGACAC	0.408																																																1	Substitution - Missense(1)	ovary(1)	20											95	86	89					20																	50292692		2203	4300	6503	49726099	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.855T>A	20.37:g.50292692A>T	ENSP00000342481:p.Asn285Lys		49726099	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126588	0.77549	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;D;T	0.90197	-1.43;-2.63;-1.44	5.61	-4.7	0.03288	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	M	0.92784	3.345	0.80722	D	1	P;D	0.60575	0.566;0.988	B;D	0.67382	0.175;0.951	D	0.94329	0.7560	10	0.87932	D	0	-28.9316	15.4263	0.75055	0.3846:0.0:0.6154:0.0	.	164;285	O75110-2;O75110	.;ATP9A_HUMAN	K	149;285;164	ENSP00000309086:N149K;ENSP00000342481:N285K;ENSP00000385875:N164K	ENSP00000309086:N149K	N	-	3	2	ATP9A	49726099	0.066000	0.20996	0.545000	0.28153	0.905000	0.53344	-0.608000	0.05641	-1.029000	0.03317	-0.256000	0.11100	AAT		0.408	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		T	50292692	A	T	50292692	3	4	64	1	0	0	0	0	1	0	0	0	1198	446	16	5	2364	5	ATP9A	20	50292692	Missense_Mutation	SNP	A	TCGA-10-0933-01A-01W-0421-09	19682229	50292692	12732828	37	3302											
MXRA5	25878	genome.wustl.edu	37	X	3241454	3241454	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chrX:3241454C>T	ENST00000217939.6	-	5	2426	c.2272G>A	c.(2272-2274)Gtt>Att	p.V758I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	758						extracellular vesicular exosome (GO:0070062)		p.V758I(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTTCTGCAACATTGGTCTCT	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											112	98	103					X																	3241454		2203	4300	6503	3251454	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2272G>A	X.37:g.3241454C>T	ENSP00000217939:p.Val758Ile		3251454	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	8.830	0.939582	0.18281	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67865	-0.29	3.63	-1.32	0.09201	.	0.755193	0.10598	N	0.656033	T	0.47930	0.1472	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.29397	-1.0013	10	0.12103	T	0.63	.	8.77	0.34726	0.0:0.5571:0.0:0.4429	.	758	Q9NR99	MXRA5_HUMAN	I	758	ENSP00000217939:V758I	ENSP00000217939:V758I	V	-	1	0	MXRA5	3251454	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.221000	0.09202	-1.069000	0.03153	0.529000	0.55759	GTT		0.438	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3241454	C	T	3241454	3	4	64	1	0	0	0	0	1	0	0	0	10003	478	17	2	6226	2	MXRA5	23	3241454	Missense_Mutation	SNP	C	TCGA-10-0933-01A-01W-0421-09		3241454	152029106	38	3303											
FAM47C	442444	genome.wustl.edu	37	X	37028284	37028284	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chrX:37028284A>G	ENST00000358047.3	+	1	1853	c.1801A>G	c.(1801-1803)Act>Gct	p.T601A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	601								p.T601A(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCCCCCGAGACTGGAGTGTC	0.657																																																1	Substitution - Missense(1)	ovary(1)	X											13	16	15					X																	37028284		2160	4218	6378	36938205	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1801A>G	X.37:g.37028284A>G	ENSP00000367913:p.Thr601Ala		36938205	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	8.270	0.813074	0.16537	.	.	ENSG00000198173	ENST00000358047	T	0.17691	2.26	1.71	-3.41	0.04839	.	.	.	.	.	T	0.15349	0.0370	M	0.81802	2.56	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.46331	-0.9199	9	0.10377	T	0.69	.	3.6714	0.08276	0.3555:0.2099:0.4346:0.0	.	601	Q5HY64	FA47C_HUMAN	A	601	ENSP00000367913:T601A	ENSP00000367913:T601A	T	+	1	0	FAM47C	36938205	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.563000	0.05943	-1.052000	0.03222	-0.541000	0.04245	ACT		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		G	37028284	A	G	37028284	3	3	64	1	0	0	0	0	1	0	0	0	5571	275	10	4	1803	4	FAM47C	23	37028284	Missense_Mutation	SNP	A	TCGA-10-0933-01A-01W-0421-09	33786830	37028284	118242276	39	3304											
MAOB	4129	genome.wustl.edu	37	X	43652774	43652774	+	Missense_Mutation	SNP	A	A	T			TCGA-10-0933-01A-01W-0421-09	TCGA-10-0933-11A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3ec4215f-b57d-4ae7-b247-55ea1f7e97d3	44c571b4-9884-4d27-b5cb-cbd97a9de5f4	g.chrX:43652774A>T	ENST00000378069.4	-	8	967	c.820T>A	c.(820-822)Ttc>Atc	p.F274I	MAOB_ENST00000538942.1_Missense_Mutation_p.F258I|MAOB_ENST00000536181.1_Missense_Mutation_p.F258I	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	274					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)	p.F274I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	GGGGGATTGAAGTGAATCTTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	X											135	112	119					X																	43652774		2203	4300	6503	43537718	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.820T>A	X.37:g.43652774A>T	ENSP00000367309:p.Phe274Ile		43537718	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589104	0.86851	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.95205	-3.64;-3.64;-3.64	5.97	4.78	0.61160	Amine oxidase (1);	0.193518	0.56097	D	0.000028	D	0.97629	0.9223	H	0.94658	3.565	0.53005	D	0.999964	D;D	0.64830	0.994;0.978	D;D	0.66979	0.948;0.919	D	0.97108	0.9802	10	0.52906	T	0.07	-5.2192	11.4497	0.50145	0.9285:0.0:0.0715:0.0	.	258;274	B7Z5H3;P27338	.;AOFB_HUMAN	I	274;258;258	ENSP00000367309:F274I;ENSP00000441613:F258I;ENSP00000442240:F258I	ENSP00000367309:F274I	F	-	1	0	MAOB	43537718	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	6.969000	0.76092	0.830000	0.34757	0.486000	0.48141	TTC		0.408	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		T	43652774	A	T	43652774	3	4	64	1	0	0	0	0	1	0	0	0	9226	72	3	5	774	5	MAOB	23	43652774	Missense_Mutation	SNP	A	TCGA-10-0933-01A-01W-0421-09	6624490	43652774	111617786	40	3305											
DLGAP3	58512	broad.mit.edu	37	1	35334650	35334650	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr1:35334650C>T	ENST00000373347.1	-	9	2309	c.2041G>A	c.(2041-2043)Gtg>Atg	p.V681M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.V681M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	681					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.V681M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCTGCCTGCACGCCAGCCGTC	0.657																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											16	14	15					1																	35334650		2132	4101	6233	35107237	SO:0001583	missense	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2041G>A	1.37:g.35334650C>T	ENSP00000362444:p.Val681Met		35107237	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712884	0.89112	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.20332	2.08;2.08	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.59037	-0.7529	10	0.87932	D	0	-12.7276	19.2575	0.93951	0.0:1.0:0.0:0.0	.	681	O95886	DLGP3_HUMAN	M	681	ENSP00000362444:V681M;ENSP00000235180:V681M	ENSP00000235180:V681M	V	-	1	0	DLGAP3	35107237	1.000000	0.71417	0.995000	0.50966	0.902000	0.53008	5.804000	0.69135	2.778000	0.95560	0.650000	0.86243	GTG		0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		T	35334650	C	T	35334650	3	4	65	1	0	0	0	0	1	0	0	0	4561	536	19	1	914	1	DLGAP3	1	35334650	Missense_Mutation	SNP	C	TCGA-10-0934-01A-02W-0420-08		35334650	213915971	1	3306											
PROX1	5629	broad.mit.edu	37	1	214170265	214170265	+	Silent	SNP	C	C	T			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr1:214170265C>T	ENST00000366958.4	+	2	995	c.387C>T	c.(385-387)tgC>tgT	p.C129C	PROX1_ENST00000498508.2_Silent_p.C129C|PROX1_ENST00000435016.1_Silent_p.C129C|PROX1_ENST00000261454.4_Silent_p.C129C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	129					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.C129C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGGATATATGCAGCAACTCTT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	1											88	95	93					1																	214170265		2203	4300	6503	212236888	SO:0001819	synonymous_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.387C>T	1.37:g.214170265C>T			212236888	A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	CCDS31021.1																																																																																				0.483	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		T	214170265	C	T	214170265	2	4	65	1	0	0	0	0	0	0	0	1	12563	718	25	2		2	PROX1	1	214170265	Silent	SNP	C	TCGA-10-0934-01A-02W-0420-08	178835615	214170265	35080356	2	3307											
SRD5A2	0	broad.mit.edu	37	2	31758813	31758813	+	RNA	SNP	T	T	C			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr2:31758813T>C	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							CCTCCCTCGATTGAGCAGTGA	0.463																																																0			2											56	52	53					2																	31758813		1930	4156	6086	31612317			6716																															2.37:g.31758813T>C			31612317		Missense_Mutation	SNP	ENST00000435713.1	37																																																																																					0.463	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1			C	31758813	T	C	31758813	1	2	65	0	1	0	0	0	0	0	0	0	15141	1493	52	4		4	SRD5A2	2	31758813	RNA	SNP	T	TCGA-10-0934-01A-02W-0420-08		31758813	211440560	3	3308											
DCUN1D4	23142	broad.mit.edu	37	4	52743949	52743949	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr4:52743949C>T	ENST00000334635.5	+	5	452	c.272C>T	c.(271-273)tCg>tTg	p.S91L	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.S135L|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.S31L|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.S91L	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	91						nucleus (GO:0005634)		p.S91L(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AAATATGATTCGACTAGAATA	0.303																																																1	Substitution - Missense(1)	ovary(1)	4											100	115	110					4																	52743949		2203	4296	6499	52438706	SO:0001583	missense	23142			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.272C>T	4.37:g.52743949C>T	ENSP00000334625:p.Ser91Leu		52438706	B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749806	0.89753	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.77	5.77	0.91146	.	0.559045	0.18751	N	0.132170	T	0.53626	0.1808	L	0.52905	1.665	0.46521	D	0.999083	P;P;P	0.39326	0.607;0.65;0.668	B;B;B	0.36289	0.107;0.221;0.158	T	0.50915	-0.8771	9	0.25106	T	0.35	-14.8756	17.1391	0.86748	0.0:1.0:0.0:0.0	.	135;91;91	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	L	91;91;31;135;135	.	ENSP00000334625:S91L	S	+	2	0	DCUN1D4	52438706	0.995000	0.38212	1.000000	0.80357	0.980000	0.70556	6.152000	0.71812	2.728000	0.93425	0.650000	0.86243	TCG		0.303	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		T	52743949	C	T	52743949	3	4	65	1	0	0	0	0	1	0	0	0	4316	893	31	1	290	1	DCUN1D4	4	52743949	Missense_Mutation	SNP	C	TCGA-10-0934-01A-02W-0420-08		52743949	138410327	4	3309											
TNS3	64759	broad.mit.edu	37	7	47317781	47317781	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr7:47317781T>C	ENST00000398879.1	-	31	4597	c.4231A>G	c.(4231-4233)Acg>Gcg	p.T1411A	TNS3_ENST00000311160.9_Missense_Mutation_p.T1411A|TNS3_ENST00000355730.3_Missense_Mutation_p.T1171A			Q68CZ2	TENS3_HUMAN	tensin 3	1411					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.T1411A(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACATTATCCGTGGCACTGCCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	7											61	66	64					7																	47317781		2141	4272	6413	47284306	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.4231A>G	7.37:g.47317781T>C	ENSP00000381854:p.Thr1411Ala		47284306	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528328	0.85706	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	T;T;T	0.30448	1.53;1.53;1.53	5.19	5.19	0.71726	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.284385	0.38778	N	0.001569	T	0.42562	0.1208	L	0.47190	1.495	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.20140	-1.0284	10	0.10636	T	0.68	-21.5814	13.0082	0.58718	0.0:0.0:0.0:1.0	.	1411	Q68CZ2	TENS3_HUMAN	A	1411;1411;1171;867	ENSP00000312143:T1411A;ENSP00000381854:T1411A;ENSP00000347968:T1171A	ENSP00000312143:T1411A	T	-	1	0	TNS3	47284306	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	7.844000	0.86867	1.967000	0.57214	0.533000	0.62120	ACG		0.512	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		C	47317781	T	C	47317781	3	2	65	1	0	0	0	0	1	0	0	0	16344	1696	59	4	110	4	TNS3	7	47317781	Missense_Mutation	SNP	T	TCGA-10-0934-01A-02W-0420-08		47317781	111820882	5	3310											
XKR6	286046	broad.mit.edu	37	8	10755661	10755661	+	Missense_Mutation	SNP	C	C	T	rs201821196		TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr8:10755661C>T	ENST00000416569.2	-	3	1753	c.1727G>A	c.(1726-1728)cGt>cAt	p.R576H	XKR6_ENST00000304437.2_Missense_Mutation_p.R297H	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	576						integral component of membrane (GO:0016021)		p.R576H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GAGGTAAGGACGCCCCAACGG	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		16778	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	8						C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	55	55	55		1727	3.8	1	8		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	XKR6	NM_173683.3	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	576/642	10755661	3,13003	2203	4300	6503	10793071	SO:0001583	missense	286046			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1727G>A	8.37:g.10755661C>T	ENSP00000416707:p.Arg576His		10793071	Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	CCDS5978.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	17.50|17.50	3.404200|3.404200	0.62288|0.62288	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000171044|ENSG00000171044	ENST00000304437;ENST00000416569|ENST00000382461	D;D|.	0.88046|.	-2.29;-2.33|.	4.73|4.73	3.85|3.85	0.44370|0.44370	.|.	0.246996|.	0.30920|.	N|.	0.008616|.	T|T	0.71400|0.71400	0.3335|0.3335	M|M	0.71036|0.71036	2.16|2.16	0.47584|0.47584	D|D	0.999462|0.999462	P|.	0.51057|.	0.941|.	P|.	0.47015|.	0.534|.	T|T	0.71777|0.71777	-0.4490|-0.4490	10|5	0.48119|.	T|.	0.1|.	-0.0118|-0.0118	13.5526|13.5526	0.61740|0.61740	0.1564:0.8436:0.0:0.0|0.1564:0.8436:0.0:0.0	.|.	576|.	Q5GH73|.	XKR6_HUMAN|.	H|I	297;576|353	ENSP00000307120:R297H;ENSP00000416707:R576H|.	ENSP00000307120:R297H|.	R|V	-|-	2|1	0|0	XKR6|XKR6	10793071|10793071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	4.662000|4.662000	0.61525|0.61525	1.201000|1.201000	0.43203|0.43203	0.555000|0.555000	0.69702|0.69702	CGT|GTC		0.557	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		T	10755661	C	T	10755661	3	4	65	1	0	0	0	0	1	0	0	0	17435	536	19	1	202	1	XKR6	8	10755661	Missense_Mutation	SNP	C	TCGA-10-0934-01A-02W-0420-08		10755661	135608361	6	3311											
IKBKB	3551	broad.mit.edu	37	8	42179941	42179941	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr8:42179941G>A	ENST00000520810.1	+	19	2101	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	IKBKB_ENST00000416505.2_Missense_Mutation_p.D580N|IKBKB_ENST00000379708.3_Missense_Mutation_p.D416N|IKBKB_ENST00000520835.1_Missense_Mutation_p.D637N|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	639					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.D639N(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AATGAATGAGGATGAGAAGAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	8											171	171	171					8																	42179941		2203	4300	6503	42299098	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1915G>A	8.37:g.42179941G>A	ENSP00000430684:p.Asp639Asn		42299098	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376673	0.24857	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.74947	-0.81;-0.89;-0.7;2.92	5.37	4.5	0.54988	.	0.142621	0.64402	N	0.000006	T	0.80989	0.4730	L	0.51422	1.61	0.40197	D	0.977474	P;P;D;P	0.89917	0.953;0.868;1.0;0.791	P;B;D;B	0.83275	0.473;0.377;0.996;0.209	T	0.78074	-0.2346	10	0.21540	T	0.41	-27.7543	13.746	0.62876	0.075:0.0:0.925:0.0	.	580;637;416;639	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	N	639;580;637;416	ENSP00000430684:D639N;ENSP00000404920:D580N;ENSP00000430868:D637N;ENSP00000369030:D416N	ENSP00000369030:D416N	D	+	1	0	IKBKB	42299098	1.000000	0.71417	0.810000	0.32431	0.003000	0.03518	5.915000	0.69973	1.286000	0.44565	-0.258000	0.10820	GAT		0.512	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			A	42179941	G	A	42179941	3	1	65	1	0	0	0	0	1	0	0	0	7611	1174	41	2	1985	2	IKBKB	8	42179941	Missense_Mutation	SNP	G	TCGA-10-0934-01A-02W-0420-08	31424280	42179941	104184081	7	3312											
PKHD1L1	93035	broad.mit.edu	37	8	110455224	110455224	+	Silent	SNP	C	C	T			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr8:110455224C>T	ENST00000378402.5	+	36	4547	c.4443C>T	c.(4441-4443)agC>agT	p.S1481S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1481					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S1483S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTATAGCAGCGGGTATGTTG	0.378										HNSCC(38;0.096)																																						1	Substitution - coding silent(1)	ovary(1)	8											173	159	163					8																	110455224		1847	4091	5938	110524400	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4443C>T	8.37:g.110455224C>T			110524400	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110455224	C	T	110455224	2	4	65	1	0	0	0	0	0	0	0	1	11972	767	27	1		1	PKHD1L1	8	110455224	Silent	SNP	C	TCGA-10-0934-01A-02W-0420-08	68275283	110455224	35908798	8	3313											
CCNJ	54619	broad.mit.edu	37	10	97817960	97817960	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr10:97817960G>A	ENST00000265992.5	+	6	1448	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.E361K|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.E372K|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.E360K	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	361						nucleus (GO:0005634)		p.E361K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TCAGATAAATGAACATTACCC	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											93	87	89					10																	97817960		2203	4300	6503	97807950	SO:0001583	missense	54619			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.1081G>A	10.37:g.97817960G>A	ENSP00000265992:p.Glu361Lys		97807950	B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855229	0.32791	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.42900	0.96;1.55;0.96	5.5	5.5	0.81552	.	0.252172	0.46758	D	0.000266	T	0.29355	0.0731	N	0.08118	0	0.29674	N	0.842216	B;B;B	0.22146	0.065;0.065;0.039	B;B;B	0.26969	0.075;0.075;0.034	T	0.24512	-1.0158	10	0.49607	T	0.09	-14.156	18.5443	0.91040	0.0:0.0:1.0:0.0	.	372;360;361	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	K	361;372;360;361	ENSP00000265992:E361K;ENSP00000384498:E360K;ENSP00000441415:E361K	ENSP00000265992:E361K	E	+	1	0	CCNJ	97807950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.995000	0.63908	2.744000	0.94065	0.655000	0.94253	GAA		0.433	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		A	97817960	G	A	97817960	3	1	65	1	0	0	0	0	1	0	0	0	2928	1291	45	2	1132	2	CCNJ	10	97817960	Missense_Mutation	SNP	G	TCGA-10-0934-01A-02W-0420-08		97817960	37716787	9	3314											
DNMBP	23268	broad.mit.edu	37	10	101646214	101646214	+	Missense_Mutation	SNP	C	C	T	rs547189728		TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr10:101646214C>T	ENST00000324109.4	-	13	3552	c.3461G>A	c.(3460-3462)cGg>cAg	p.R1154Q	DNMBP_ENST00000543621.1_Missense_Mutation_p.R400Q|DNMBP_ENST00000342239.3_Missense_Mutation_p.R1178Q|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000540316.1_Missense_Mutation_p.R90Q	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1154	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1154Q(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATAGTTGTTCCGGGCCGACTG	0.542													C|||	1	0.000199681	0	0	5008	,	,		18045	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	10											121	120	120					10																	101646214		2203	4300	6503	101636204	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3461G>A	10.37:g.101646214C>T	ENSP00000315659:p.Arg1154Gln		101636204	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386926	0.95967	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.82	5.82	0.92795	BAR (3);	0.000000	0.44688	D	0.000425	T	0.73768	0.3629	M	0.68317	2.08	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.988;0.999	T	0.65990	-0.6034	10	0.13470	T	0.59	-25.4208	19.7034	0.96065	0.0:1.0:0.0:0.0	.	1154;400;1178	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	Q	1178;1154;400;400;90	ENSP00000344914:R1178Q;ENSP00000315659:R1154Q;ENSP00000443657:R400Q;ENSP00000443573:R90Q	ENSP00000315659:R1154Q	R	-	2	0	DNMBP	101636204	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.974000	0.63771	2.756000	0.94617	0.561000	0.74099	CGG		0.542	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		T	101646214	C	T	101646214	3	4	65	1	0	0	0	0	1	0	0	0	4674	652	23	1	1292	1	DNMBP	10	101646214	Missense_Mutation	SNP	C	TCGA-10-0934-01A-02W-0420-08	3828254	101646214	33888533	10	3315											
USP31	57478	broad.mit.edu	37	16	23079555	23079555	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr16:23079555C>T	ENST00000219689.7	-	16	3870	c.3871G>A	c.(3871-3873)Gag>Aag	p.E1291K	USP31_ENST00000567975.1_Missense_Mutation_p.E584K	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.E1291K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACAAGCTGCTCTTTTCCCGTT	0.547																																																1	Substitution - Missense(1)	ovary(1)	16											214	200	205					16																	23079555		2197	4300	6497	22987056	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3871G>A	16.37:g.23079555C>T	ENSP00000219689:p.Glu1291Lys		22987056	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328591	0.81690	.	.	ENSG00000103404	ENST00000219689	T	0.08720	3.06	5.8	5.8	0.92144	.	0.522840	0.17756	N	0.163057	T	0.19406	0.0466	M	0.62723	1.935	0.54753	D	0.999985	P;P	0.49559	0.919;0.925	P;P	0.49752	0.45;0.621	T	0.00068	-1.2141	10	0.72032	D	0.01	-16.7116	17.219	0.86952	0.0:1.0:0.0:0.0	.	1291;584	Q70CQ4;B3KS48	UBP31_HUMAN;.	K	1291	ENSP00000219689:E1291K	ENSP00000219689:E1291K	E	-	1	0	USP31	22987056	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.007000	0.57093	2.735000	0.93741	0.655000	0.94253	GAG		0.547	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		T	23079555	C	T	23079555	3	4	65	1	0	0	0	0	1	0	0	0	17062	922	32	2	191	2	USP31	16	23079555	Missense_Mutation	SNP	C	TCGA-10-0934-01A-02W-0420-08		23079555	67275198	11	3316											
VMO1	284013	broad.mit.edu	37	17	4689599	4689599	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr17:4689599G>A	ENST00000328739.5	-	1	128	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	VMO1_ENST00000416307.2_Missense_Mutation_p.R17W|VMO1_ENST00000354194.4_Missense_Mutation_p.R17W|GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000441199.2_Missense_Mutation_p.R17W	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	17						extracellular vesicular exosome (GO:0070062)		p.R17W(1)		kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						CCAGTCGCCCgcagaagcagc	0.627																																																1	Substitution - Missense(1)	ovary(1)	17											16	19	18					17																	4689599		2203	4297	6500	4636339	SO:0001583	missense	284013			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.49C>T	17.37:g.4689599G>A	ENSP00000328397:p.Arg17Trp		4636339	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555298	0.27739	.	.	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000354194;ENST00000441199	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.57	-2.94	0.05581	.	1.976990	0.01860	N	0.036543	T	0.28333	0.0700	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.18147	-1.0346	10	0.37606	T	0.19	-1.6678	6.6698	0.23062	0.3666:0.1474:0.486:0.0	.	17;17;17;17	C9JQ15;E9PAU9;E9PGP4;Q7Z5L0	.;.;.;VMO1_HUMAN	W	17	ENSP00000328397:R17W;ENSP00000390450:R17W;ENSP00000346133:R17W;ENSP00000408166:R17W	ENSP00000328397:R17W	R	-	1	2	VMO1	4636339	0.000000	0.05858	0.022000	0.16811	0.004000	0.04260	-0.695000	0.05109	-0.456000	0.07043	-1.326000	0.01283	CGG		0.627	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		A	4689599	G	A	4689599	3	1	65	1	0	0	0	0	1	0	0	0	17177	1086	38	1	605	1	VMO1	17	4689599	Missense_Mutation	SNP	G	TCGA-10-0934-01A-02W-0420-08		4689599	76505611	12	3317											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	65	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-10-0934-01A-02W-0420-08	2887521	7577120	73618090	13	3318											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	65	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-10-0934-01A-02W-0420-08	418	7577538	73617672	14	3319											
SMARCA4	6597	broad.mit.edu	37	19	11134230	11134230	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr19:11134230C>T	ENST00000429416.3	+	21	3177	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	SMARCA4_ENST00000344626.4_Missense_Mutation_p.R966W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R966W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R966W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R966W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R966W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R966W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R966W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R966W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	966					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R966W(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCTCATCATCCGGCGTCTCCA	0.567			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	2	Substitution - Missense(1)|Unknown(1)	ovary(1)|lung(1)	19											68	61	63					19																	11134230		2203	4300	6503	10995230	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2896C>T	19.37:g.11134230C>T	ENSP00000395654:p.Arg966Trp		10995230	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649626	0.87958	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	M	0.88906	2.99	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.994;0.965;0.999;0.999	D	0.97864	1.0282	10	0.87932	D	0	-18.8931	16.9975	0.86372	0.0:1.0:0.0:0.0	.	966;966;966;966;966;186;966;966	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	W	966;966;1030;966;966;966;966;966	ENSP00000395654:R966W;ENSP00000350720:R966W;ENSP00000343896:R966W;ENSP00000445036:R966W;ENSP00000392837:R966W;ENSP00000397783:R966W;ENSP00000414727:R966W	ENSP00000343896:R966W	R	+	1	2	SMARCA4	10995230	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.576000	0.60915	2.542000	0.85734	0.655000	0.94253	CGG		0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11134230	C	T	11134230	3	4	65	1	0	0	0	0	1	0	0	0	14773	643	23	1	2970	1	SMARCA4	19	11134230	Missense_Mutation	SNP	C	TCGA-10-0934-01A-02W-0420-08		11134230	47994753	15	3320											
ZNF714	148206	broad.mit.edu	37	19	21300346	21300346	+	Silent	SNP	T	T	A			TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr19:21300346T>A	ENST00000596143.1	+	5	1201	c.876T>A	c.(874-876)gcT>gcA	p.A292A	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A292A(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGACAAAGCTTTTAACCGAT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	19											24	26	25					19																	21300346		2179	4290	6469	21092186	SO:0001819	synonymous_variant	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.876T>A	19.37:g.21300346T>A			21092186	Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	CCDS54239.1																																																																																				0.343	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		A	21300346	T	A	21300346	2	1	65	1	0	0	0	0	0	0	0	1	18118	1596	56	5		5	ZNF714	19	21300346	Silent	SNP	T	TCGA-10-0934-01A-02W-0420-08	10166116	21300346	37828637	16	3321											
PRX	57716	broad.mit.edu	37	19	40902612	40902612	+	Silent	SNP	C	C	T	rs202113722		TCGA-10-0934-01A-02W-0420-08	TCGA-10-0934-11A-01W-0420-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7a9c14-21aa-4462-808b-c8b502088098	cbb5189e-ae6f-4c51-aa37-336a797254f5	g.chr19:40902612C>T	ENST00000324001.7	-	7	1917	c.1647G>A	c.(1645-1647)ccG>ccA	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P549P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGACACTTTCGGCAGCTGTA	0.577													C|||	1	0.000199681	0	0	5008	,	,		17167	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19											89	102	97					19																	40902612		2202	4297	6499	45594452	SO:0001819	synonymous_variant	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1647G>A	19.37:g.40902612C>T			45594452	Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																				0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		T	40902612	C	T	40902612	2	4	65	1	0	0	0	0	0	0	0	1	12645	871	31	1		1	PRX	19	40902612	Silent	SNP	C	TCGA-10-0934-01A-02W-0420-08	19602266	40902612	18226371	17	3322											
OR4F5	79501	genome.wustl.edu	37	1	69538	69538	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr1:69538G>A	ENST00000335137.3	+	1	448	c.448G>A	c.(448-450)Gtg>Atg	p.V150M		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V150M(1)		lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTCCATTCGGTGAGCCAGTT	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											160	92	117					1																	69538		1774	3031	4805	59401	SO:0001583	missense	79501			AB065592	CCDS30547.1	1p36.33	2012-08-09			ENSG00000186092	ENSG00000186092		"GPCR / Class A : Olfactory receptors"	14825	protein-coding gene	gene with protein product							Standard	NM_001005484		Approved		uc001aal.1	Q8NH21	OTTHUMG00000001094	ENST00000335137.3:c.448G>A	1.37:g.69538G>A	ENSP00000334393:p.Val150Met		59401	Q5VT22	Missense_Mutation	SNP	ENST00000335137.3	37	CCDS30547.1	.	.	.	.	.	.	.	.	.	.	.	0.204	-1.042343	0.01997	.	.	ENSG00000186092	ENST00000534990;ENST00000335137	T	0.00183	8.6	2.31	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.160951	0.28504	N	0.015115	T	0.00210	0.0006	N	0.16233	0.39	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.61332	-0.7084	10	0.18710	T	0.47	.	7.4074	0.26998	0.0:0.0:0.7421:0.2579	.	150	Q8NH21	OR4F5_HUMAN	M	198;150	ENSP00000334393:V150M	ENSP00000334393:V150M	V	+	1	0	OR4F5	59401	0.000000	0.05858	0.997000	0.53966	0.535000	0.34838	-0.639000	0.05446	1.232000	0.43678	0.398000	0.26397	GTG		0.468	OR4F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003223.1	NM_001005484		A	69538	G	A	69538	3	1	66	1	0	0	0	0	1	0	0	0	11065	1261	44	2	450	2	OR4F5	1	69538	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09		69538	249181083	1	3323											
NBPF3	84224	genome.wustl.edu	37	1	21798254	21798254	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr1:21798254C>G	ENST00000318249.5	+	5	989	c.639C>G	c.(637-639)caC>caG	p.H213Q	NBPF3_ENST00000454000.2_Missense_Mutation_p.H143Q|NBPF3_ENST00000342104.5_Missense_Mutation_p.H213Q|NBPF3_ENST00000318220.6_Missense_Mutation_p.H157Q	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	213						cytoplasm (GO:0005737)		p.H213Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCACAGCACCTCGTCCAAA	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											59	64	62					1																	21798254		2203	4300	6503	21670841	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.639C>G	1.37:g.21798254C>G	ENSP00000316782:p.His213Gln		21670841	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	3.659	-0.069881	0.07228	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.39406	1.08;4.09;4.07;4.08;4.09	1.23	1.23	0.21249	.	.	.	.	.	T	0.29556	0.0737	L	0.35341	1.055	0.09310	N	1	B;B;B	0.31680	0.007;0.335;0.013	B;B;B	0.34824	0.012;0.19;0.006	T	0.20075	-1.0286	9	0.33141	T	0.24	.	5.9218	0.19086	0.0:1.0:0.0:0.0	.	143;213;213	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	Q	143;157;213;157;213;157	ENSP00000415711:H143Q;ENSP00000316739:H157Q;ENSP00000316782:H213Q;ENSP00000340336:H213Q;ENSP00000391865:H157Q	ENSP00000316739:H157Q	H	+	3	2	NBPF3	21670841	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.184000	0.16939	1.002000	0.39104	0.398000	0.26397	CAC		0.582	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		G	21798254	C	G	21798254	3	3	66	1	0	0	0	0	1	0	0	0	10197	506	18	3	653	3	NBPF3	1	21798254	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09	21728716	21798254	227452367	2	3324											
CSDE1	7812	genome.wustl.edu	37	1	115282409	115282409	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr1:115282409T>G	ENST00000358528.4	-	3	529	c.103A>C	c.(103-105)Acc>Ccc	p.T35P	CSDE1_ENST00000534699.1_Missense_Mutation_p.T35P|CSDE1_ENST00000339438.6_Missense_Mutation_p.T35P|CSDE1_ENST00000438362.2_Missense_Mutation_p.T81P|CSDE1_ENST00000369530.1_Missense_Mutation_p.T81P|CSDE1_ENST00000261443.5_Missense_Mutation_p.T35P|CSDE1_ENST00000530886.1_Intron	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	35	CSD 1.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.T35P(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGTAAGAGGTTAACAGTTTT	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											291	298	296					1																	115282409		2203	4300	6503	115083932	SO:0001583	missense	7812				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.103A>C	1.37:g.115282409T>G	ENSP00000351329:p.Thr35Pro		115083932	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273724	0.59649	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878	.	.	.	5.81	5.81	0.92471	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);	0.047513	0.85682	D	0.000000	T	0.54127	0.1839	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;0.977;0.997	D;P;D	0.87578	0.998;0.798;0.986	T	0.58956	-0.7544	9	0.38643	T	0.18	-27.0422	16.1616	0.81721	0.0:0.0:0.0:1.0	.	81;35;81	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	P	35;81;35;35;81;35;35;35	.	ENSP00000261443:T35P	T	-	1	0	CSDE1	115083932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.961000	0.70356	2.218000	0.71995	0.377000	0.23210	ACC		0.413	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		G	115282409	T	G	115282409	3	3	66	1	0	0	0	0	1	0	0	0	3929	1725	60	5	2365	5	CSDE1	1	115282409	Missense_Mutation	SNP	T	TCGA-10-0935-01A-03W-0421-09	93484155	115282409	133968212	3	3325											
PRPF3	9129	genome.wustl.edu	37	1	150307613	150307613	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr1:150307613C>A	ENST00000324862.6	+	7	1101	c.936C>A	c.(934-936)gaC>gaA	p.D312E	PRPF3_ENST00000543398.1_Missense_Mutation_p.D177E|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.D263E	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	312					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.D312E(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCTTTTTTGACCCCCGAGTCT	0.453																																					Ovarian(168;1070 2670 5178 20729)											1	Substitution - Missense(1)	ovary(1)	1											85	81	82					1																	150307613		2203	4300	6503	148574237	SO:0001583	missense	9129			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.936C>A	1.37:g.150307613C>A	ENSP00000315379:p.Asp312Glu		148574237	B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	CCDS951.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419790	0.83559	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	D;D;D	0.86769	-2.17;-2.17;-2.17	5.78	-1.65	0.08291	Pre-mRNA-splicing factor 3 (1);	0.000000	0.85682	D	0.000000	D	0.92077	0.7489	M	0.92604	3.325	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92183	0.5753	10	0.87932	D	0	-16.2282	11.5049	0.50459	0.0:0.5687:0.0:0.4313	.	263;312	E7EVD1;O43395	.;PRPF3_HUMAN	E	312;263;177	ENSP00000315379:D312E;ENSP00000387844:D263E;ENSP00000445421:D177E	ENSP00000315379:D312E	D	+	3	2	PRPF3	148574237	0.966000	0.33281	0.987000	0.45799	0.981000	0.71138	0.197000	0.17197	-0.228000	0.09869	-0.150000	0.13652	GAC		0.453	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		A	150307613	C	A	150307613	3	1	66	1	0	0	0	0	1	0	0	0	12568	506	18	3	958	3	PRPF3	1	150307613	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09	35025204	150307613	98943008	4	3326											
FCRL5	83416	genome.wustl.edu	37	1	157497673	157497673	+	Missense_Mutation	SNP	C	C	T	rs376321602		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr1:157497673C>T	ENST00000361835.3	-	9	1851	c.1694G>A	c.(1693-1695)cGc>cAc	p.R565H	FCRL5_ENST00000368191.3_Missense_Mutation_p.R480H|FCRL5_ENST00000368190.3_Missense_Mutation_p.R565H|FCRL5_ENST00000356953.4_Missense_Mutation_p.R565H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	565					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.R565H(2)|p.R565P(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGGATGGGGCGAGACACTGG	0.527																																																3	Substitution - Missense(3)	ovary(1)|large_intestine(1)|kidney(1)	1						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	44	49	47		1694,1694	1.6	0.9	1		47	2,8598		0,2,4298	no	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	565/999,565/978	157497673	2,13004	2203	4300	6503	155764297	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1694G>A	1.37:g.157497673C>T	ENSP00000354691:p.Arg565His		155764297	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	7.816	0.716824	0.15306	0.0	2.33E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	3.53	1.59	0.23543	.	0.445392	0.16880	N	0.195724	T	0.01523	0.0049	L	0.45352	1.415	0.80722	D	1	P;P;P;P	0.51057	0.514;0.941;0.783;0.783	B;B;B;B	0.43809	0.167;0.432;0.38;0.38	T	0.63152	-0.6701	10	0.30854	T	0.27	.	6.3384	0.21309	0.0:0.7603:0.0:0.2397	.	480;565;565;565	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	H	565;565;565;480	ENSP00000354691:R565H;ENSP00000349434:R565H;ENSP00000357173:R565H;ENSP00000357174:R480H	ENSP00000349434:R565H	R	-	2	0	FCRL5	155764297	0.001000	0.12720	0.922000	0.36590	0.821000	0.46438	-2.375000	0.01071	0.293000	0.22520	0.650000	0.86243	CGC		0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		T	157497673	C	T	157497673	3	4	66	1	0	0	0	0	1	0	0	0	5798	768	27	1	1275	1	FCRL5	1	157497673	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09	7190060	157497673	91752948	5	3327											
SPTA1	6708	genome.wustl.edu	37	1	158606539	158606539	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr1:158606539T>C	ENST00000368147.4	-	37	5382	c.5202A>G	c.(5200-5202)atA>atG	p.I1734M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1734					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.I1734M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTCACTCGTATCAACTTCT	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											111	107	108					1																	158606539		1877	4111	5988	156873163	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5202A>G	1.37:g.158606539T>C	ENSP00000357129:p.Ile1734Met		156873163	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	6.347	0.432140	0.12045	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49720	0.77;0.77	5.26	-1.82	0.07857	.	.	.	.	.	T	0.14874	0.0359	N	0.22421	0.69	0.09310	N	1	P	0.34629	0.46	B	0.42738	0.396	T	0.33954	-0.9848	9	0.46703	T	0.11	.	0.5937	0.00732	0.3998:0.1569:0.1375:0.3058	.	1734	P02549	SPTA1_HUMAN	M	1734	ENSP00000357130:I1734M;ENSP00000357129:I1734M	ENSP00000357129:I1734M	I	-	3	3	SPTA1	156873163	0.003000	0.15002	0.003000	0.11579	0.013000	0.08279	-0.554000	0.06006	-0.126000	0.11682	0.528000	0.53228	ATA		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158606539	T	C	158606539	3	2	66	1	0	0	0	0	1	0	0	0	15118	1628	57	4	2121	4	SPTA1	1	158606539	Missense_Mutation	SNP	T	TCGA-10-0935-01A-03W-0421-09	1108866	158606539	90644082	6	3328											
CYP1B1	1545	genome.wustl.edu	37	2	38298138	38298138	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr2:38298138G>C	ENST00000260630.3	-	3	1760	c.1359C>G	c.(1357-1359)aaC>aaG	p.N453K	CYP1B1_ENST00000407341.1_Missense_Mutation_p.N453K|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	453			N -> S (in allele CYP1B1*4; dbSNP:rs1800440). {ECO:0000269|PubMed:10655546, ECO:0000269|PubMed:11854439, ECO:0000269|PubMed:12036985, ECO:0000269|PubMed:12525557, ECO:0000269|PubMed:14635112, ECO:0000269|PubMed:15342693, ECO:0000269|PubMed:15475877, ECO:0000269|PubMed:16688110, ECO:0000269|PubMed:9823305, ECO:0000269|Ref.4, ECO:0000269|Ref.5}.		angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.N453K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TCAGGTCCTTGTTGATGAGGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											83	77	79					2																	38298138		2203	4300	6503	38151642	SO:0001583	missense	1545			U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"Cytochrome P450s"	2597	protein-coding gene	gene with protein product		601771	"cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1359C>G	2.37:g.38298138G>C	ENSP00000260630:p.Asn453Lys		38151642	Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221358	0.79464	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.66815	-0.23;-0.23	5.95	5.08	0.68730	.	0.172254	0.64402	D	0.000008	T	0.68210	0.2976	L	0.38838	1.175	0.51233	D	0.999918	D	0.59357	0.985	P	0.58172	0.834	T	0.70773	-0.4781	10	0.72032	D	0.01	.	9.3946	0.38394	0.1602:0.0:0.8398:0.0	.	453	Q53TK1	.	K	453	ENSP00000260630:N453K;ENSP00000384972:N453K	ENSP00000260630:N453K	N	-	3	2	CYP1B1	38151642	1.000000	0.71417	0.989000	0.46669	0.917000	0.54804	1.202000	0.32271	1.530000	0.49136	0.655000	0.94253	AAC		0.473	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		C	38298138	G	C	38298138	3	2	66	1	0	0	0	0	1	0	0	0	4151	1368	48	3	276	3	CYP1B1	2	38298138	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09		38298138	204901235	7	3329											
TTN	7273	genome.wustl.edu	37	2	179397440	179397440	+	Silent	SNP	T	T	C			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr2:179397440T>C	ENST00000591111.1	-	308	99203	c.98979A>G	c.(98977-98979)ccA>ccG	p.P32993P	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Silent_p.P32066P|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.P25694P|TTN_ENST00000460472.2_Silent_p.P25569P|TTN_ENST00000589042.1_Silent_p.P34634P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P25761P|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	32993					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P32064P(1)|p.P25569P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCGGCGGGCTGGTCTCACTA	0.458																																																2	Substitution - coding silent(2)	ovary(2)	2											71	67	68					2																	179397440		1941	4126	6067	179105686	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98979A>G	2.37:g.179397440T>C			179105686	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179397440	T	C	179397440	2	2	66	1	0	0	0	0	0	0	0	1	16735	1567	55	4		4	TTN	2	179397440	Silent	SNP	T	TCGA-10-0935-01A-03W-0421-09	141099302	179397440	63801933	8	3330											
COL3A1	1281	genome.wustl.edu	37	2	189873731	189873731	+	Missense_Mutation	SNP	G	G	A	rs550665335		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr2:189873731G>A	ENST00000304636.3	+	48	3777	c.3607G>A	c.(3607-3609)Gct>Act	p.A1203T	COL3A1_ENST00000317840.5_Missense_Mutation_p.A900T	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1203	Nonhelical region (C-terminal).			A -> P (in Ref. 10; CAA33387). {ECO:0000305}.	aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A1203T(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGTTGGAGCCGCTGCCATTGC	0.542													G|||	1	0.000199681	0	0	5008	,	,		16413	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	2											81	88	85					2																	189873731		2203	4300	6503	189581976	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3607G>A	2.37:g.189873731G>A	ENSP00000304408:p.Ala1203Thr		189581976	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968934	0.53614	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.90563	-2.56;-2.69	5.4	3.56	0.40772	.	0.261056	0.26907	N	0.021892	T	0.75443	0.3850	N	0.08118	0	0.09310	N	1	B	0.32781	0.384	B	0.22152	0.038	T	0.63368	-0.6653	10	0.20519	T	0.43	.	8.5613	0.33511	0.0815:0.0:0.7671:0.1514	.	1203	P02461	CO3A1_HUMAN	T	1203;900	ENSP00000304408:A1203T;ENSP00000315243:A900T	ENSP00000304408:A1203T	A	+	1	0	COL3A1	189581976	0.071000	0.21146	0.001000	0.08648	0.524000	0.34500	2.543000	0.45752	0.619000	0.30197	0.561000	0.74099	GCT		0.542	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		A	189873731	G	A	189873731	3	1	66	1	0	0	0	0	1	0	0	0	3688	1087	38	1	3797	1	COL3A1	2	189873731	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09	10476291	189873731	53325642	9	3331											
OR5H2	79310	genome.wustl.edu	37	3	98001940	98001940	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr3:98001940G>T	ENST00000355273.2	+	1	209	c.209G>T	c.(208-210)aGt>aTt	p.S70I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S70I(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTCTTGGGAGTTTAGCCTTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											283	266	272					3																	98001940		2203	4300	6503	99484630	SO:0001583	missense	79310				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.209G>T	3.37:g.98001940G>T	ENSP00000347418:p.Ser70Ile		99484630	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	G	8.301	0.819973	0.16678	.	.	ENSG00000197938	ENST00000355273	T	0.03065	4.06	3.2	0.311	0.15831	GPCR, rhodopsin-like superfamily (1);	0.467995	0.18019	U	0.154311	T	0.03959	0.0111	L	0.28014	0.82	0.09310	N	1	P	0.48640	0.913	P	0.48141	0.568	T	0.38908	-0.9639	10	0.66056	D	0.02	.	6.1733	0.20429	0.4923:0.0:0.5077:0.0	.	70	Q8NGV7	OR5H2_HUMAN	I	70	ENSP00000347418:S70I	ENSP00000347418:S70I	S	+	2	0	OR5H2	99484630	0.000000	0.05858	0.161000	0.22692	0.188000	0.23474	0.115000	0.15540	-0.068000	0.12953	-0.256000	0.11100	AGT		0.403	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			T	98001940	G	T	98001940	3	4	66	1	0	0	0	0	1	0	0	0	11162	1029	36	3	211	3	OR5H2	3	98001940	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09		98001940	100020490	10	3332											
GABRA2	2555	genome.wustl.edu	37	4	46252524	46252524	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr4:46252524G>C	ENST00000510861.1	-	10	1330	c.1157C>G	c.(1156-1158)aCc>aGc	p.T386S	GABRA2_ENST00000356504.1_Missense_Mutation_p.T386S|GABRA2_ENST00000507069.1_Missense_Mutation_p.T446S|GABRA2_ENST00000381620.4_Missense_Mutation_p.T386S|GABRA2_ENST00000540012.1_Missense_Mutation_p.T391S|GABRA2_ENST00000514090.1_Missense_Mutation_p.T386S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	386					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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.T386S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTTGGAGATGGTGGAGAGAAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	4											169	168	169					4																	46252524		2203	4299	6502	45947281	SO:0001583	missense	2555				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1157C>G	4.37:g.46252524G>C	ENSP00000421828:p.Thr386Ser		45947281	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149525	0.37923	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.048010	0.85682	D	0.000000	D	0.82779	0.5111	L	0.29908	0.895	0.21933	N	0.999466	D;B	0.54047	0.964;0.344	P;B	0.50192	0.634;0.134	T	0.72484	-0.4279	10	0.11485	T	0.65	.	19.3998	0.94623	0.0:0.0:1.0:0.0	.	391;386	B7Z1H8;P47869	.;GBRA2_HUMAN	S	386;386;386;386;391;446	ENSP00000421828:T386S;ENSP00000421300:T386S;ENSP00000371033:T386S;ENSP00000348897:T386S;ENSP00000444409:T391S;ENSP00000427603:T446S	ENSP00000348897:T386S	T	-	2	0	GABRA2	45947281	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.876000	0.87215	2.827000	0.97445	0.655000	0.94253	ACC		0.428	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			C	46252524	G	C	46252524	3	2	66	1	0	0	0	0	1	0	0	0	6161	1261	44	3	202	3	GABRA2	4	46252524	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09		46252524	144901752	11	3333											
UGT2B10	7365	genome.wustl.edu	37	4	69693267	69693267	+	Splice_Site	SNP	G	G	C	rs201190671		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr4:69693267G>C	ENST00000265403.7	+	5	1334		c.e5+1		UGT2B10_ENST00000458688.2_Splice_Site	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10						lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.?(4)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGATCCTTCGTGAGTAGAAC	0.383																																					Melanoma(133;755 1763 25578 26334 46021)											4	Unknown(4)	ovary(2)|prostate(2)	4											126	136	132					4																	69693267		1511	2708	4219	69727856	SO:0001630	splice_region_variant	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1307+1G>C	4.37:g.69693267G>C			69727856	A8K9M3|B4DPP1|Q14CR8	Splice_Site	SNP	ENST00000265403.7	37		.	.	.	.	.	.	.	.	.	.	g	11.26	1.586143	0.28268	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	.	.	.	2.25	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.874	0.41191	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UGT2B10	69727856	1.000000	0.71417	0.355000	0.25773	0.034000	0.12701	3.794000	0.55492	1.089000	0.41292	0.184000	0.17185	.		0.383	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	Intron	C	69693267	G	C	69693267	5	2	66	1	0	0	0	0	0	0	1	0	16956	1159	40	3	1326	3	UGT2B10	4	69693267	Splice_Site	SNP	G	TCGA-10-0935-01A-03W-0421-09	23440743	69693267	121461009	12	3334											
SPRY1	10252	genome.wustl.edu	37	4	124323351	124323351	+	Missense_Mutation	SNP	T	T	C	rs376045682		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr4:124323351T>C	ENST00000394339.2	+	2	945	c.605T>C	c.(604-606)tTg>tCg	p.L202S	SPRY1_ENST00000339241.1_Missense_Mutation_p.L202S	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	202	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.L202S(1)		NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CCATCCTGTTTGGCCTGTAAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	4						T	SER/LEU,SER/LEU	0,4406		0,0,2203	182	151	161		605,605	3.8	0.9	4		161	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPRY1	NM_005841.1,NM_199327.1	145,145	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	202/320,202/320	124323351	1,13005	2203	4300	6503	124542801	SO:0001583	missense	10252			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.605T>C	4.37:g.124323351T>C	ENSP00000377871:p.Leu202Ser		124542801	D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128268	0.56721	0.0	1.16E-4	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.62788	0.0;1.32;0.0	5.06	3.84	0.44239	.	0.000000	0.64402	D	0.000009	T	0.68997	0.3062	L	0.41236	1.265	0.51767	D	0.999932	D	0.76494	0.999	D	0.83275	0.996	T	0.66027	-0.6025	9	.	.	.	-8.4287	11.5987	0.50990	0.0:0.0:0.1495:0.8505	.	202	O43609	SPY1_HUMAN	S	202	ENSP00000343785:L202S;ENSP00000421036:L202S;ENSP00000377871:L202S	.	L	+	2	0	SPRY1	124542801	0.997000	0.39634	0.921000	0.36526	0.983000	0.72400	2.681000	0.46926	0.907000	0.36646	0.459000	0.35465	TTG		0.512	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			C	124323351	T	C	124323351	3	2	66	1	0	0	0	0	1	0	0	0	15107	1821	63	4	607	4	SPRY1	4	124323351	Missense_Mutation	SNP	T	TCGA-10-0935-01A-03W-0421-09	54630084	124323351	66830925	13	3335											
CLCN3	1182	genome.wustl.edu	37	4	170634429	170634429	+	Missense_Mutation	SNP	C	C	G	rs150635179		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr4:170634429C>G	ENST00000513761.1	+	12	2908	c.2349C>G	c.(2347-2349)tgC>tgG	p.C783W	CLCN3_ENST00000504131.2_Missense_Mutation_p.C766W|CLCN3_ENST00000360642.3_Missense_Mutation_p.C756W|CLCN3_ENST00000347613.4_Missense_Mutation_p.C783W	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	783	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.C783W(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGAGGCAGTGCCTTGTAACTC	0.448																																																1	Substitution - Missense(1)	ovary(1)	4											90	81	84					4																	170634429		2203	4300	6503	170871004	SO:0001583	missense	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2349C>G	4.37:g.170634429C>G	ENSP00000424603:p.Cys783Trp		170871004	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410620	0.62399	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.2	5.2	0.72013	Cystathionine beta-synthase, core (3);	0.042013	0.85682	D	0.000000	D	0.94542	0.8242	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.997	D;D;D;D	0.69479	0.964;0.964;0.964;0.94	D	0.94815	0.7982	10	0.87932	D	0	-2.5636	13.2429	0.60008	0.0:0.9236:0.0:0.0764	.	756;766;783;783	B7Z932;B9EGJ9;P51790;P51790-2	.;.;CLCN3_HUMAN;.	W	783;783;756;766	ENSP00000424603:C783W;ENSP00000261514:C783W;ENSP00000353857:C756W;ENSP00000424540:C766W	ENSP00000261514:C783W	C	+	3	2	CLCN3	170871004	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.183000	0.42565	2.452000	0.82932	0.638000	0.83543	TGC		0.448	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			G	170634429	C	G	170634429	3	3	66	1	0	0	0	0	1	0	0	0	3464	747	26	3	2391	3	CLCN3	4	170634429	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09	46311078	170634429	20519847	14	3336											
HTR1A	3350	genome.wustl.edu	37	5	63256867	63256867	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr5:63256867C>T	ENST00000323865.3	-	1	913	c.680G>A	c.(679-681)cGc>cAc	p.R227H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	227					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R227H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GACCGTCTTGCGGATGCGGAA	0.587																																																1	Substitution - Missense(1)	ovary(1)	5											68	75	73					5																	63256867		2203	4299	6502	63292623	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.680G>A	5.37:g.63256867C>T	ENSP00000316244:p.Arg227His		63292623	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593113	0.86953	.	.	ENSG00000178394	ENST00000323865	T	0.42513	0.97	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69503	-0.5128	10	0.52906	T	0.07	.	18.8287	0.92128	0.0:1.0:0.0:0.0	.	227	P08908	5HT1A_HUMAN	H	227	ENSP00000316244:R227H	ENSP00000316244:R227H	R	-	2	0	HTR1A	63292623	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.312000	0.51927	2.692000	0.91855	0.655000	0.94253	CGC		0.587	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		T	63256867	C	T	63256867	3	4	66	1	0	0	0	0	1	0	0	0	7436	768	27	1	591	1	HTR1A	5	63256867	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09		63256867	117658393	15	3337											
PCDHGA12	26025	genome.wustl.edu	37	5	140810709	140810709	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr5:140810709A>G	ENST00000252085.3	+	1	525	c.383A>G	c.(382-384)gAc>gGc	p.D128G	PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D128G(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATTAACGACAATGCGCCT	0.418																																																2	Substitution - Missense(2)	ovary(2)	5											79	93	88					5																	140810709		2203	4300	6503	140790893	SO:0001583	missense	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.383A>G	5.37:g.140810709A>G	ENSP00000252085:p.Asp128Gly		140790893	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	a	19.81	3.896635	0.72639	.	.	ENSG00000253159	ENST00000252085	T	0.54479	0.57	5.79	5.79	0.91817	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85097	0.5619	H	0.99961	5.07	0.41548	D	0.988557	D;P	0.54772	0.968;0.946	P;P	0.60415	0.874;0.752	D	0.92562	0.6059	9	0.87932	D	0	.	15.8034	0.78473	1.0:0.0:0.0:0.0	.	128;128	O60330-2;O60330	.;PCDGC_HUMAN	G	128	ENSP00000252085:D128G	ENSP00000252085:D128G	D	+	2	0	PCDHGA12	140790893	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	7.531000	0.81973	2.215000	0.71742	0.528000	0.53228	GAC		0.418	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		G	140810709	A	G	140810709	3	3	66	1	0	0	0	0	1	0	0	0	11553	275	10	4	385	4	PCDHGA12	5	140810709	Missense_Mutation	SNP	A	TCGA-10-0935-01A-03W-0421-09	77553842	140810709	40104551	16	3338											
OR5V1	81696	genome.wustl.edu	37	6	29323463	29323463	+	Silent	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr6:29323463G>A	ENST00000377154.1	-	4	809	c.510C>T	c.(508-510)ggC>ggT	p.G170G	OR5V1_ENST00000543825.1_Silent_p.G170G			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G170G(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTGATTGTTGCCACAGAAGG	0.473																																					Ovarian(32;43 883 21137 32120 42650)											1	Substitution - coding silent(1)	ovary(1)	6											90	86	87					6																	29323463		2203	4299	6502	29431442	SO:0001819	synonymous_variant	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.510C>T	6.37:g.29323463G>A			29431442	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Silent	SNP	ENST00000377154.1	37	CCDS4657.1																																																																																				0.473	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			A	29323463	G	A	29323463	2	1	66	1	0	0	0	0	0	0	0	1	11184	1306	46	2		2	OR5V1	6	29323463	Silent	SNP	G	TCGA-10-0935-01A-03W-0421-09		29323463	141791604	17	3339											
ROS1	6098	genome.wustl.edu	37	6	117631362	117631362	+	Missense_Mutation	SNP	C	C	T	rs150262256		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr6:117631362C>T	ENST00000368508.3	-	40	6514	c.6316G>A	c.(6316-6318)Gcc>Acc	p.A2106T	ROS1_ENST00000368507.3_Missense_Mutation_p.A2100T	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A2106T(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGTCTCTGGCGAGTCCAAAG	0.453			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	1	Substitution - Missense(1)	ovary(1)	6						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	109	114	112		6316	5.6	0.3	6	dbSNP_134	112	0,8600		0,0,4300	no	missense	ROS1	NM_002944.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2106/2348	117631362	1,13005	2203	4300	6503	117738055	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6316G>A	6.37:g.117631362C>T	ENSP00000357494:p.Ala2106Thr		117738055	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.457610	0.84317	2.27E-4	0.0	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91792	-2.91;-2.91	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000006	D	0.94584	0.8255	L	0.58101	1.795	0.53005	D	0.999964	D	0.89917	1.0	D	0.85130	0.997	D	0.93322	0.6693	10	0.42905	T	0.14	.	18.8423	0.92189	0.0:1.0:0.0:0.0	.	2106	P08922	ROS1_HUMAN	T	2106;2100	ENSP00000357494:A2106T;ENSP00000357493:A2100T	ENSP00000357493:A2100T	A	-	1	0	ROS1	117738055	0.999000	0.42202	0.308000	0.25141	0.979000	0.70002	3.845000	0.55880	2.766000	0.95052	0.655000	0.94253	GCC		0.453	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117631362	C	T	117631362	3	4	66	1	0	0	0	0	1	0	0	0	13534	768	27	1	743	1	ROS1	6	117631362	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09	88307899	117631362	53483705	18	3340											
AKR1B1	231	genome.wustl.edu	37	7	134132106	134132106	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr7:134132106T>C	ENST00000285930.4	-	8	848	c.769A>G	c.(769-771)Aac>Gac	p.N257D	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	257					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.N257D(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	ACCACCAAGTTCCTCTGCATG	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											149	113	125					7																	134132106		2203	4300	6503	133782646	SO:0001583	missense	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.769A>G	7.37:g.134132106T>C	ENSP00000285930:p.Asn257Asp		133782646	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199649	0.58126	.	.	ENSG00000085662	ENST00000285930	T	0.10860	2.83	5.12	3.98	0.46160	NADP-dependent oxidoreductase domain (3);	0.130520	0.64402	N	0.000002	T	0.05364	0.0142	N	0.03154	-0.405	0.54753	D	0.999987	B	0.15141	0.012	B	0.24006	0.05	T	0.31081	-0.9956	10	0.59425	D	0.04	.	8.8072	0.34945	0.0:0.0853:0.0:0.9147	.	257	P15121	ALDR_HUMAN	D	257	ENSP00000285930:N257D	ENSP00000285930:N257D	N	-	1	0	AKR1B1	133782646	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	5.145000	0.64839	0.915000	0.36847	0.459000	0.35465	AAC		0.547	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		C	134132106	T	C	134132106	3	2	66	1	0	0	0	0	1	0	0	0	466	1783	62	4	193	4	AKR1B1	7	134132106	Missense_Mutation	SNP	T	TCGA-10-0935-01A-03W-0421-09		134132106	25006557	19	3341											
MLL3	58508	genome.wustl.edu	37	7	151851206	151851206	+	Silent	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr7:151851206G>A	ENST00000262189.6	-	48	12383	c.12165C>T	c.(12163-12165)atC>atT	p.I4055I	KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000355193.2_Silent_p.I4112I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4055					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I4055I(1)									GCTCAGTTTTGATGTCATTCC	0.338																																																1	Substitution - coding silent(1)	ovary(1)	7											74	77	76					7																	151851206		2203	4300	6503	151482139	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12165C>T	7.37:g.151851206G>A			151482139	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.353	1.066067	0.20067	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.48	-1.15	0.09709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5428	0.12066	0.12:0.0873:0.3612:0.4316	.	.	.	.	X	1616	.	.	Q	-	1	0	MLL3	151482139	0.998000	0.40836	0.994000	0.49952	0.920000	0.55202	0.314000	0.19432	-0.109000	0.12044	-0.722000	0.03604	CAA		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151851206	G	A	151851206	2	1	66	1	0	0	0	0	0	0	0	1	9622	1280	45	2		2	MLL3	7	151851206	Silent	SNP	G	TCGA-10-0935-01A-03W-0421-09	17719100	151851206	7287457	20	3342											
C8orf45	157777	genome.wustl.edu	37	8	67789597	67789597	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr8:67789597T>G	ENST00000422365.2	+	5	470	c.299T>G	c.(298-300)cTg>cGg	p.L100R	MCMDC2_ENST00000313616.5_Missense_Mutation_p.L100R|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L100R|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L100R|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L37R	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	100					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.L95R(1)		endometrium(2)|kidney(2)|lung(5)	9						AATATAGTGCTGAAATTAACA	0.279																																																1	Substitution - Missense(1)	ovary(1)	8											64	62	62					8																	67789597		2203	4300	6503	67952151	SO:0001583	missense	157777			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.299T>G	8.37:g.67789597T>G	ENSP00000413632:p.Leu100Arg		67952151	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098292	0.76870	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.32023	3.55;3.55;3.55;3.55;1.47	4.93	4.93	0.64822	.	0.163747	0.41823	D	0.000806	T	0.51176	0.1659	M	0.64997	1.995	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.45086	-0.9285	10	0.28530	T	0.3	-3.1261	14.8697	0.70448	0.0:0.0:0.0:1.0	.	37;100;100;100	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	R	100;100;100;100;37	ENSP00000379837:L100R;ENSP00000413632:L100R;ENSP00000428037:L100R;ENSP00000317234:L100R;ENSP00000445629:L37R	ENSP00000317234:L100R	L	+	2	0	C8orf45	67952151	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.369000	0.79578	1.956000	0.56807	0.482000	0.46254	CTG		0.279	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		G	67789597	T	G	67789597	3	3	66	1	0	0	0	0	1	0	0	0	2430	1580	55	5	313	5	C8orf45	8	67789597	Missense_Mutation	SNP	T	TCGA-10-0935-01A-03W-0421-09		67789597	78574425	21	3343											
DAB2IP	153090	genome.wustl.edu	37	9	124521255	124521255	+	Nonsense_Mutation	SNP	C	C	T	rs114266755	byFrequency	TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr9:124521255C>T	ENST00000408936.3	+	5	777	c.595C>T	c.(595-597)Cga>Tga	p.R199*	DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.R171*|DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.R75*			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	199	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R75*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAACCTCCGGCGAGCGGTGCA	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	9											87	76	80					9																	124521255		2203	4300	6503	123561076	SO:0001587	stop_gained	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.595C>T	9.37:g.124521255C>T	ENSP00000386183:p.Arg199*		123561076	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Nonsense_Mutation	SNP	ENST00000408936.3	37		.	.	.	.	.	.	.	.	.	.	C	37	6.203613	0.97371	.	.	ENSG00000136848	ENST00000394340;ENST00000436835;ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4451	0.87575	0.0:1.0:0.0:0.0	.	.	.	.	X	171;75;171;199;108;75	.	ENSP00000259371:R171X	R	+	1	2	DAB2IP	123561076	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	1.884000	0.39668	2.414000	0.81942	0.462000	0.41574	CGA		0.567	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		T	124521255	C	T	124521255	4	4	66	1	0	0	0	0	0	1	0	0	4219	760	27	1	529	1	DAB2IP	9	124521255	Nonsense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09		124521255	16692176	22	3344											
ANKRD30A	91074	genome.wustl.edu	37	10	37486216	37486216	+	Silent	SNP	C	C	T	rs574286090	byFrequency	TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr10:37486216C>T	ENST00000602533.1	+	28	2553	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P	ANKRD30A_ENST00000374660.1_Silent_p.P937P|ANKRD30A_ENST00000361713.1_Silent_p.P818P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	874					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P818P(4)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGAGCCTCCCGAGAAGCCAT	0.323																																																4	Substitution - coding silent(4)	lung(1)|ovary(1)|prostate(1)|kidney(1)	10											201	165	176					10																	37486216		1812	4087	5899	37526222	SO:0001819	synonymous_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2454C>T	10.37:g.37486216C>T			37526222	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																					0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		T	37486216	C	T	37486216	2	4	66	1	0	0	0	0	0	0	0	1	658	639	23	1		1	ANKRD30A	10	37486216	Silent	SNP	C	TCGA-10-0935-01A-03W-0421-09		37486216	98048531	23	3345											
RNLS	55328	genome.wustl.edu	37	10	90122431	90122431	+	Missense_Mutation	SNP	C	C	G	rs556716831		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr10:90122431C>G	ENST00000331772.4	-	5	600	c.578G>C	c.(577-579)cGa>cCa	p.R193P	RNLS_ENST00000371947.3_Missense_Mutation_p.R193P|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.R110P	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	193					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)	p.R193P(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAGAGCATATCGAGAGGAGTA	0.448																																																1	Substitution - Missense(1)	ovary(1)	10											105	96	99					10																	90122431		2203	4300	6503	90112411	SO:0001583	missense	55328			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.578G>C	10.37:g.90122431C>G	ENSP00000332530:p.Arg193Pro		90112411	Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447066	0.84101	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	D;T;D	0.92495	-3.05;0.52;-3.05	6.07	6.07	0.98685	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.996	D	0.93728	0.7039	10	0.25106	T	0.35	.	19.424	0.94734	0.0:1.0:0.0:0.0	.	110;193;193	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	P	193;110;193	ENSP00000361015:R193P;ENSP00000387577:R110P;ENSP00000332530:R193P	ENSP00000332530:R193P	R	-	2	0	RNLS	90112411	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.778000	0.75043	2.890000	0.99128	0.585000	0.79938	CGA		0.448	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		G	90122431	C	G	90122431	3	3	66	1	0	0	0	0	1	0	0	0	13508	884	31	3	538	3	RNLS	10	90122431	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09	52636215	90122431	45412316	24	3346											
ENTPD1	953	genome.wustl.edu	37	10	97599531	97599531	+	Silent	SNP	C	C	T	rs538046581		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr10:97599531C>T	ENST00000371205.4	+	3	511	c.228C>T	c.(226-228)ggC>ggT	p.G76G	ENTPD1_ENST00000453258.2_Silent_p.G83G|ENTPD1_ENST00000371207.3_Silent_p.G88G|ENTPD1_ENST00000543964.1_5'UTR|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1-AS1_ENST00000416301.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	76					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.G76G(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ATGACACAGGCGTGGTGCATC	0.478													G|||	1	0.000199681	0	0	5008	,	,		8800	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	10											174	163	166					10																	97599531		2203	4300	6503	97589521	SO:0001819	synonymous_variant	953			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.228C>T	10.37:g.97599531C>T			97589521	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	CCDS7444.1																																																																																				0.478	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		T	97599531	C	T	97599531	2	4	66	1	0	0	0	0	0	0	0	1	5138	755	27	1		1	ENTPD1	10	97599531	Silent	SNP	C	TCGA-10-0935-01A-03W-0421-09	7477100	97599531	37935216	25	3347											
PNLIP	5406	genome.wustl.edu	37	10	118318717	118318717	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr10:118318717G>A	ENST00000369221.2	+	10	1010	c.982G>A	c.(982-984)Gct>Act	p.A328T		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	328					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.A328T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GGGTCACTATGCTGATAGATA	0.408																																																1	Substitution - Missense(1)	ovary(1)	10											106	99	102					10																	118318717		2203	4300	6503	118308707	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.982G>A	10.37:g.118318717G>A	ENSP00000358223:p.Ala328Thr		118308707	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074581	0.94000	.	.	ENSG00000175535	ENST00000369221	D	0.91124	-2.79	6.05	6.05	0.98169	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.95201	0.8444	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94791	0.7962	10	0.66056	D	0.02	.	19.3727	0.94495	0.0:0.0:1.0:0.0	.	328	P16233	LIPP_HUMAN	T	328	ENSP00000358223:A328T	ENSP00000358223:A328T	A	+	1	0	PNLIP	118308707	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.462000	0.80851	2.878000	0.98634	0.650000	0.86243	GCT		0.408	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		A	118318717	G	A	118318717	3	1	66	1	0	0	0	0	1	0	0	0	12149	1319	46	2	1016	2	PNLIP	10	118318717	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09	20719186	118318717	17216030	26	3348											
POLD3	10714	genome.wustl.edu	37	11	74347268	74347268	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr11:74347268A>C	ENST00000263681.2	+	11	1275	c.1146A>C	c.(1144-1146)aaA>aaC	p.K382N	POLD3_ENST00000532497.1_Missense_Mutation_p.K276N|POLD3_ENST00000527458.1_Missense_Mutation_p.K343N	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	382					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)	p.K382N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACAAAAGAAAACGAAAACGCG	0.343																																																1	Substitution - Missense(1)	ovary(1)	11											81	78	79					11																	74347268		2200	4293	6493	74024916	SO:0001583	missense	10714			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.1146A>C	11.37:g.74347268A>C	ENSP00000263681:p.Lys382Asn		74024916	B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	CCDS8233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.986332|3.986332	0.74589|0.74589	.|.	.|.	ENSG00000077514|ENSG00000077514	ENST00000263681;ENST00000527458;ENST00000532497|ENST00000524752	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.041276|.	0.85682|.	D|.	0.000000|.	T|T	0.66684|0.66684	0.2814|0.2814	M|M	0.73962|0.73962	2.25|2.25	0.49798|0.49798	D|D	0.99982|0.99982	P|.	0.51147|.	0.942|.	P|.	0.54759|.	0.76|.	T|T	0.68262|0.68262	-0.5455|-0.5455	9|5	0.22706|.	T|.	0.39|.	-16.9767|-16.9767	8.4602|8.4602	0.32923|0.32923	0.9139:0.0:0.0861:0.0|0.9139:0.0:0.0861:0.0	.|.	382|.	Q15054|.	DPOD3_HUMAN|.	N|T	382;343;276|106	.|.	ENSP00000263681:K382N|.	K|N	+|+	3|2	2|0	POLD3|POLD3	74024916|74024916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	2.180000|2.180000	0.42537|0.42537	2.178000|2.178000	0.69098|0.69098	0.459000|0.459000	0.35465|0.35465	AAA|AAC		0.343	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		C	74347268	A	C	74347268	3	2	66	1	0	0	0	0	1	0	0	0	12192	40	2	5	1188	5	POLD3	11	74347268	Missense_Mutation	SNP	A	TCGA-10-0935-01A-03W-0421-09		74347268	60659248	27	3349											
GRIN2B	2904	genome.wustl.edu	37	12	13768146	13768146	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr12:13768146C>T	ENST00000609686.1	-	7	1765	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	519					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R519Q(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACCTCCGATCGTTCCTCATT	0.517																																																2	Substitution - Missense(2)	ovary(2)	12											158	125	136					12																	13768146		2203	4300	6503	13659413	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1556G>A	12.37:g.13768146C>T	ENSP00000477455:p.Arg519Gln		13659413	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	37	6.060417	0.97246	.	.	ENSG00000150086	ENST00000279593	T	0.70631	-0.5	6.17	6.17	0.99709	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92383	0.5915	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	519	Q13224	NMDE2_HUMAN	Q	519	ENSP00000279593:R519Q	ENSP00000279593:R519Q	R	-	2	0	GRIN2B	13659413	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	7.813000	0.86123	2.941000	0.99782	0.655000	0.94253	CGA		0.517	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13768146	C	T	13768146	3	4	66	1	0	0	0	0	1	0	0	0	6780	884	31	1	2926	1	GRIN2B	12	13768146	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09		13768146	120083749	28	3350											
ITPR2	3709	genome.wustl.edu	37	12	26985673	26985673	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr12:26985673G>C	ENST00000381340.3	-	1	458	c.42C>G	c.(40-42)atC>atG	p.I14M	ITPR2_ENST00000242737.5_Missense_Mutation_p.I14M	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	14					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.I14M(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACAGGGACACGATGTCCCCTA	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											88	101	97					12																	26985673		2189	4300	6489	26876940	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.42C>G	12.37:g.26985673G>C	ENSP00000370744:p.Ile14Met		26876940	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552368	0.65311	.	.	ENSG00000123104	ENST00000381340;ENST00000242737	D;D	0.98666	-5.06;-5.06	4.08	2.21	0.28008	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.269187	0.41294	N	0.000902	D	0.99001	0.9659	M	0.89785	3.06	0.42476	D	0.992842	B;B	0.30563	0.285;0.121	P;B	0.52481	0.7;0.266	D	0.99914	1.1215	10	0.72032	D	0.01	.	9.4635	0.38798	0.1815:0.0:0.8185:0.0	.	14;14	Q14571-2;Q14571	.;ITPR2_HUMAN	M	14	ENSP00000370744:I14M;ENSP00000242737:I14M	ENSP00000242737:I14M	I	-	3	3	ITPR2	26876940	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.806000	0.27126	0.481000	0.27557	-0.225000	0.12378	ATC		0.622	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26985673	G	C	26985673	3	2	66	1	0	0	0	0	1	0	0	0	7921	1048	37	3	8291	3	ITPR2	12	26985673	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09	13217527	26985673	106866222	29	3351											
KRT1	3848	genome.wustl.edu	37	12	53072390	53072390	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr12:53072390C>T	ENST00000252244.3	-	2	800	c.742G>A	c.(742-744)Gat>Aat	p.D248N		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	248	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.D248N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CGAGATTGATCACTCTTCAGT	0.473																																																1	Substitution - Missense(1)	ovary(1)	12											183	162	169					12																	53072390		2203	4300	6503	51358657	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.742G>A	12.37:g.53072390C>T	ENSP00000252244:p.Asp248Asn		51358657	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343589	0.82022	.	.	ENSG00000167768	ENST00000252244	T	0.78595	-1.19	4.98	4.98	0.66077	Filament (1);	.	.	.	.	D	0.87700	0.6243	M	0.79343	2.45	0.46203	D	0.998929	D	0.61080	0.989	D	0.72982	0.979	D	0.89208	0.3562	9	0.87932	D	0	.	15.7745	0.78204	0.0:0.8639:0.1361:0.0	.	248	P04264	K2C1_HUMAN	N	248	ENSP00000252244:D248N	ENSP00000252244:D248N	D	-	1	0	KRT1	51358657	0.996000	0.38824	0.094000	0.20943	0.007000	0.05969	3.366000	0.52343	2.482000	0.83794	0.655000	0.94253	GAT		0.473	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		T	53072390	C	T	53072390	3	4	66	1	0	0	0	0	1	0	0	0	8447	826	29	2	1224	2	KRT1	12	53072390	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09	26086717	53072390	80779505	30	3352											
LCP1	3936	genome.wustl.edu	37	13	46716516	46716516	+	Silent	SNP	C	C	T	rs141184605	byFrequency	TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr13:46716516C>T	ENST00000398576.2	-	16	1801	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	LCP1_ENST00000435666.2_Silent_p.A40A|LCP1_ENST00000323076.2_Silent_p.A471A			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	471	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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.A471A(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)		GGGAGAACTTCGCTTGATTCT	0.428			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						C		1,4405	2.1+/-5.4	0,1,2202	172	143	153		1413	-4.7	1	13	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	LCP1	NM_002298.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		471/628	46716516	1,13005	2203	4300	6503	45614517	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.1413G>A	13.37:g.46716516C>T			45614517	B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	CCDS9403.1																																																																																				0.428	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		T	46716516	C	T	46716516	2	4	66	1	0	0	0	0	0	0	0	1	8691	871	31	1		1	LCP1	13	46716516	Silent	SNP	C	TCGA-10-0935-01A-03W-0421-09		46716516	68453362	31	3353											
MYO16	23026	genome.wustl.edu	37	13	109777500	109777500	+	Silent	SNP	A	A	G			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr13:109777500A>G	ENST00000357550.2	+	29	3551	c.3510A>G	c.(3508-3510)agA>agG	p.R1170R	MYO16_ENST00000356711.2_Silent_p.R1170R|MYO16_ENST00000457511.2_Silent_p.R682R	NM_001198950.1	NP_001185879.1			myosin XVI									p.R1170R(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCTTCAGAGAATAAGCATCA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	13											69	67	68					13																	109777500		2203	4300	6503	108575501	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3510A>G	13.37:g.109777500A>G			108575501		Silent	SNP	ENST00000357550.2	37	CCDS32008.1																																																																																				0.428	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		G	109777500	A	G	109777500	2	3	66	1	0	0	0	0	0	0	0	1	10064	243	9	4		4	MYO16	13	109777500	Silent	SNP	A	TCGA-10-0935-01A-03W-0421-09	63060984	109777500	5392378	32	3354											
NYNRIN	57523	genome.wustl.edu	37	14	24877706	24877706	+	Missense_Mutation	SNP	C	C	T	rs35050968		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr14:24877706C>T	ENST00000382554.3	+	3	1148	c.830C>T	c.(829-831)cCg>cTg	p.P277L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	277					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.P277L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGAGCACACCGCAGGAGGCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											15	17	16					14																	24877706		2110	4225	6335	23947546	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.830C>T	14.37:g.24877706C>T	ENSP00000371994:p.Pro277Leu		23947546	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	3.347	-0.133431	0.06711	.	.	ENSG00000205978	ENST00000382554	T	0.10005	2.92	4.96	1.05	0.20165	.	4.508000	0.00166	N	0.000018	T	0.05227	0.0139	N	0.08118	0	0.27420	N	0.954327	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	10	0.02654	T	1	.	5.8172	0.18500	0.4827:0.3662:0.0:0.1511	.	277	Q9P2P1	NYNRI_HUMAN	L	277	ENSP00000371994:P277L	ENSP00000371994:P277L	P	+	2	0	NYNRIN	23947546	0.013000	0.17824	0.867000	0.34043	0.145000	0.21501	-0.151000	0.10175	0.369000	0.24510	-0.397000	0.06425	CCG		0.537	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			T	24877706	C	T	24877706	3	4	66	1	0	0	0	0	1	0	0	0	10796	652	23	1	836	1	NYNRIN	14	24877706	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09		24877706	82471834	33	3355											
PRTG	283659	genome.wustl.edu	37	15	56032827	56032827	+	Silent	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr15:56032827G>A	ENST00000561292.1	-	2	308	c.150C>T	c.(148-150)gtC>gtT	p.V50V	PRTG_ENST00000389286.4_Silent_p.V50V					protogenin									p.V50V(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CCTTTCTTGTGACAGTTACAT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	15											86	82	83					15																	56032827		1835	4089	5924	53820119	SO:0001819	synonymous_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.150C>T	15.37:g.56032827G>A			53820119		Silent	SNP	ENST00000561292.1	37																																																																																					0.408	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814		A	56032827	G	A	56032827	2	1	66	1	0	0	0	0	0	0	0	1	12641	1277	45	2		2	PRTG	15	56032827	Silent	SNP	G	TCGA-10-0935-01A-03W-0421-09		56032827	46498565	34	3356											
WHAMM	123720	genome.wustl.edu	37	15	83499813	83499813	+	Nonsense_Mutation	SNP	G	G	T			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr15:83499813G>T	ENST00000286760.4	+	9	2203	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	702	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)	p.E702*(1)		endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TGACTCCTTGGAAAGTTTTTC	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	15											112	118	116					15																	83499813		2164	4279	6443	81296867	SO:0001587	stop_gained	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.2104G>T	15.37:g.83499813G>T	ENSP00000286760:p.Glu702*		81296867	Q8N1J9	Nonsense_Mutation	SNP	ENST00000286760.4	37	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912138	0.92178	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	.	.	.	4.46	2.34	0.29019	.	6.470100	0.00424	N	0.000074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	4.6407	0.12546	0.1278:0.2296:0.6425:0.0	.	.	.	.	X	702	.	ENSP00000234505:E702X	E	+	1	0	WHAMM	81296867	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.980000	0.29513	1.044000	0.40200	0.306000	0.20318	GAA		0.493	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			T	83499813	G	T	83499813	4	4	66	1	0	0	0	0	0	1	0	0	17361	1175	41	3	2138	3	WHAMM	15	83499813	Nonsense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09	27466986	83499813	19031579	35	3357											
WHAMM	123720	genome.wustl.edu	37	15	83502192	83502192	+	Silent	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr15:83502192G>A	ENST00000286760.4	+	10	2433	c.2334G>A	c.(2332-2334)gaG>gaA	p.E778E		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	778	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)	p.E752E(1)		endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						GTGACCTTGAGAGGAGCATCA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	15											53	56	55					15																	83502192		2098	4230	6328	81299246	SO:0001819	synonymous_variant	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.2334G>A	15.37:g.83502192G>A			81299246	Q8N1J9	Silent	SNP	ENST00000286760.4	37	CCDS45333.1																																																																																				0.557	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			A	83502192	G	A	83502192	2	1	66	1	0	0	0	0	0	0	0	1	17361	933	33	2		2	WHAMM	15	83502192	Silent	SNP	G	TCGA-10-0935-01A-03W-0421-09	2379	83502192	19029200	36	3358											
SLC7A6OS	84138	genome.wustl.edu	37	16	68338020	68338020	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr16:68338020T>C	ENST00000263997.6	-	3	605	c.587A>G	c.(586-588)tAt>tGt	p.Y196C		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	196					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y196C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GTCATACACATAGTCATCGTG	0.517																																																1	Substitution - Missense(1)	ovary(1)	16											213	196	202					16																	68338020		2198	4300	6498	66895521	SO:0001583	missense	84138				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.587A>G	16.37:g.68338020T>C	ENSP00000263997:p.Tyr196Cys		66895521	Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	CCDS10865.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.442511	0.63067	.	.	ENSG00000103061	ENST00000263997	T	0.39997	1.05	5.79	3.4	0.38934	.	0.112845	0.64402	D	0.000007	T	0.58764	0.2145	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.60924	-0.7166	10	0.87932	D	0	-5.0871	9.2651	0.37636	0.2874:0.0:0.0:0.7126	.	196	Q96CW6	S7A6O_HUMAN	C	196	ENSP00000263997:Y196C	ENSP00000263997:Y196C	Y	-	2	0	SLC7A6OS	66895521	1.000000	0.71417	0.981000	0.43875	0.480000	0.33159	4.377000	0.59562	1.011000	0.39340	0.454000	0.30748	TAT		0.517	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		C	68338020	T	C	68338020	3	2	66	1	0	0	0	0	1	0	0	0	14705	1406	49	4	354	4	SLC7A6OS	16	68338020	Missense_Mutation	SNP	T	TCGA-10-0935-01A-03W-0421-09		68338020	22016733	37	3359											
TP53	7157	genome.wustl.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	G			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr17:7578290C>G	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		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"	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	17	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82	74	76					17																	7578290		2203	4300	6503	7519015	SO:0001630	splice_region_variant	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.560-1G>C	17.37:g.7578290C>G			7519015	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883886	0.17467	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	G	7578290	C	G	7578290	5	3	66	1	0	0	0	0	0	0	1	0	16381	695	24	3	735	3	TP53	17	7578290	Splice_Site	SNP	C	TCGA-10-0935-01A-03W-0421-09		7578290	73616920	38	3360											
MYH10	4628	genome.wustl.edu	37	17	8396296	8396296	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr17:8396296T>C	ENST00000269243.4	-	31	4301	c.4163A>G	c.(4162-4164)gAa>gGa	p.E1388G	MYH10_ENST00000360416.3_Missense_Mutation_p.E1419G|MYH10_ENST00000396239.1_Missense_Mutation_p.E1409G|MYH10_ENST00000379980.4_Missense_Mutation_p.E1404G	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1388					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1388G(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCCAGACTTTCAATTGTTCC	0.488																																																1	Substitution - Missense(1)	ovary(1)	17											87	88	88					17																	8396296		2203	4300	6503	8337021	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4163A>G	17.37:g.8396296T>C	ENSP00000269243:p.Glu1388Gly		8337021	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	34	5.292830	0.95546	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.31	5.31	0.75309	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	H	0.94385	3.53	0.80722	D	1	D;D;D	0.55605	0.972;0.965;0.972	P;P;P	0.61874	0.895;0.831;0.895	D	0.94621	0.7813	10	0.72032	D	0.01	.	15.4317	0.75105	0.0:0.0:0.0:1.0	.	1397;1419;1388	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	G	1388;1419;1409;1404	ENSP00000269243:E1388G;ENSP00000353590:E1419G;ENSP00000379539:E1409G;ENSP00000369315:E1404G	ENSP00000269243:E1388G	E	-	2	0	MYH10	8337021	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	7.825000	0.86693	2.224000	0.72417	0.528000	0.53228	GAA		0.488	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			C	8396296	T	C	8396296	3	2	66	1	0	0	0	0	1	0	0	0	10030	1783	62	4	1811	4	MYH10	17	8396296	Missense_Mutation	SNP	T	TCGA-10-0935-01A-03W-0421-09	818006	8396296	72798914	39	3361											
ANKRD30B	374860	genome.wustl.edu	37	18	14782535	14782535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr18:14782535G>T	ENST00000358984.4	+	12	1672	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*	ANKRD30B_ENST00000447268.2_Nonsense_Mutation_p.E498*|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	498								p.E498*(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAGTCTCTTTGAGAGTTCTGC	0.269																																																1	Substitution - Nonsense(1)	ovary(1)	18											61	52	55					18																	14782535		692	1583	2275	14772535	SO:0001587	stop_gained	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1492G>T	18.37:g.14782535G>T	ENSP00000351875:p.Glu498*		14772535	B4DGP1|F8WAG3|Q4G175	Nonsense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	14.53	2.564066	0.45694	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	.	.	.	1.11	0.0712	0.14381	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	4.969	0.14105	0.0:0.3885:0.6115:0.0	.	.	.	.	X	498	.	ENSP00000351875:E498X	E	+	1	0	ANKRD30B	14772535	0.004000	0.15560	0.002000	0.10522	0.376000	0.30014	0.085000	0.14912	0.046000	0.15833	0.089000	0.15464	GAG		0.269	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		T	14782535	G	T	14782535	4	4	66	1	0	0	0	0	0	1	0	0	659	1291	45	3	1538	3	ANKRD30B	18	14782535	Nonsense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09		14782535	63294713	40	3362											
DSC1	1823	genome.wustl.edu	37	18	28714698	28714698	+	Missense_Mutation	SNP	G	G	T	rs376495489		TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr18:28714698G>T	ENST00000257198.5	-	12	1974	c.1713C>A	c.(1711-1713)aaC>aaA	p.N571K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.N571K|RP11-408H20.3_ENST00000582307.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	571	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N571K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GTGCGTGATCGTTGTAATCAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	18						G	LYS/ASN,LYS/ASN	0,4406		0,0,2203	76	68	71		1713,1713	0.2	0.9	18		71	1,8599		0,1,4299	no	missense,missense	DSC1	NM_004948.3,NM_024421.2	94,94	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	571/841,571/895	28714698	1,13005	2203	4300	6503	26968696	SO:0001583	missense	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1713C>A	18.37:g.28714698G>T	ENSP00000257198:p.Asn571Lys		26968696	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	g	11.99	1.804193	0.31869	0.0	1.16E-4	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.75477	-0.94;-0.94	5.35	0.222	0.15288	Cadherin (4);Cadherin conserved site (1);Cadherin-like (2);	0.000000	0.56097	D	0.000024	D	0.88366	0.6417	H	0.97051	3.93	0.50313	D	0.999865	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86381	0.1729	10	0.87932	D	0	.	8.4381	0.32799	0.6864:0.0:0.3136:0.0	.	571;571	Q08554;Q9HB00	DSC1_HUMAN;.	K	571	ENSP00000257197:N571K;ENSP00000257198:N571K	ENSP00000257197:N571K	N	-	3	2	DSC1	26968696	0.986000	0.35501	0.928000	0.36995	0.005000	0.04900	0.068000	0.14531	-0.118000	0.11851	-1.213000	0.01624	AAC		0.353	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		T	28714698	G	T	28714698	3	4	66	1	0	0	0	0	1	0	0	0	4765	1136	40	3	1031	3	DSC1	18	28714698	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09	13932163	28714698	49362550	41	3363											
OR7G3	390883	genome.wustl.edu	37	19	9237569	9237569	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr19:9237569C>A	ENST00000305444.2	-	1	57	c.58G>T	c.(58-60)Gat>Tat	p.D20Y		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D20Y(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGCTCCGGATCCCCTGACAAT	0.478																																																1	Substitution - Missense(1)	ovary(1)	19											73	72	73					19																	9237569		2203	4300	6503	9098569	SO:0001583	missense	390883				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.58G>T	19.37:g.9237569C>A	ENSP00000302867:p.Asp20Tyr		9098569	Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132725	0.37630	.	.	ENSG00000170920	ENST00000305444	T	0.01092	5.35	4.16	2.02	0.26589	.	1.078070	0.07332	U	0.879275	T	0.02267	0.0070	L	0.58101	1.795	0.09310	N	1	P	0.45176	0.852	P	0.47206	0.541	T	0.47018	-0.9149	10	0.66056	D	0.02	.	2.7876	0.05378	0.214:0.5097:0.0:0.2763	.	20	Q8NG95	OR7G3_HUMAN	Y	20	ENSP00000302867:D20Y	ENSP00000302867:D20Y	D	-	1	0	OR7G3	9098569	0.000000	0.05858	0.011000	0.14972	0.002000	0.02628	-0.864000	0.04254	1.111000	0.41721	0.558000	0.71614	GAT		0.478	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			A	9237569	C	A	9237569	3	1	66	1	0	0	0	0	1	0	0	0	11224	855	30	3	883	3	OR7G3	19	9237569	Missense_Mutation	SNP	C	TCGA-10-0935-01A-03W-0421-09		9237569	49891414	42	3364											
RTN2	6253	genome.wustl.edu	37	19	45992653	45992653	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr19:45992653G>A	ENST00000245923.4	-	6	1427	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	RTN2_ENST00000430715.2_Missense_Mutation_p.R58C|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.R325C|RTN2_ENST00000590526.1_Missense_Mutation_p.R124C	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	398	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.R398C(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		AGCACTTTGCGGTAAACCCTG	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											45	33	37					19																	45992653		2202	4299	6501	50684493	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1192C>T	19.37:g.45992653G>A	ENSP00000245923:p.Arg398Cys		50684493	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671235	0.47781	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.44881	0.91;0.91;0.91	4.55	4.55	0.56014	.	0.299715	0.33438	N	0.004902	T	0.34890	0.0913	N	0.08118	0	0.80722	D	1	D;P	0.64830	0.994;0.646	P;B	0.53649	0.731;0.087	T	0.38499	-0.9658	10	0.72032	D	0.01	-7.7129	12.73	0.57193	0.0:0.0:1.0:0.0	.	325;398	O75298-2;O75298	.;RTN2_HUMAN	C	325;398;58	ENSP00000345127:R325C;ENSP00000245923:R398C;ENSP00000398178:R58C	ENSP00000245923:R398C	R	-	1	0	RTN2	50684493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.236000	0.43052	2.376000	0.81061	0.558000	0.71614	CGC		0.627	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		A	45992653	G	A	45992653	3	1	66	1	0	0	0	0	1	0	0	0	13729	1116	39	1	469	1	RTN2	19	45992653	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09	36755084	45992653	13136330	43	3365											
BTBD3	22903	genome.wustl.edu	37	20	11904279	11904279	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr20:11904279G>A	ENST00000405977.1	+	5	2159	c.1534G>A	c.(1534-1536)Gga>Aga	p.G512R	BTBD3_ENST00000378226.2_Missense_Mutation_p.G512R|BTBD3_ENST00000399006.2_Missense_Mutation_p.G451R|BTBD3_ENST00000254977.3_Missense_Mutation_p.G451R	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	512					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.G512R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TGGGGTACAGGGAGGGCAGAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	20											133	121	125					20																	11904279		2203	4300	6503	11852279	SO:0001583	missense	22903			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1534G>A	20.37:g.11904279G>A	ENSP00000384545:p.Gly512Arg		11852279	D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300097	0.81136	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.77750	-1.05;-1.05;-1.12;-1.12	6.02	6.02	0.97574	PHR (1);	0.000000	0.85682	D	0.000000	D	0.86230	0.5883	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86079	0.1543	10	0.72032	D	0.01	.	19.5289	0.95219	0.0:0.0:1.0:0.0	.	512	Q9Y2F9	BTBD3_HUMAN	R	451;451;512;512	ENSP00000254977:G451R;ENSP00000381971:G451R;ENSP00000384545:G512R;ENSP00000367471:G512R	ENSP00000254977:G451R	G	+	1	0	BTBD3	11852279	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GGA		0.483	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			A	11904279	G	A	11904279	3	1	66	1	0	0	0	0	1	0	0	0	1544	1233	43	2	1548	2	BTBD3	20	11904279	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09		11904279	51121241	44	3366											
PHACTR3	116154	genome.wustl.edu	37	20	58318324	58318324	+	Splice_Site	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr20:58318324G>A	ENST00000371015.1	+	2	747		c.e2+1		PHACTR3_ENST00000395636.2_Splice_Site|PHACTR3_ENST00000355648.4_Splice_Site|PHACTR3_ENST00000359926.3_Splice_Site|PHACTR3_ENST00000395639.4_Splice_Site|PHACTR3_ENST00000361300.4_Splice_Site|PHACTR3_ENST00000541461.1_Splice_Site	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3							nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			ACAACGTCAGGTAAAGGCCTG	0.577																																																1	Unknown(1)	ovary(1)	20											50	47	48					20																	58318324		2203	4300	6503	57751719	SO:0001630	splice_region_variant	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.280+1G>A	20.37:g.58318324G>A			57751719	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Splice_Site	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663039	0.67700	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6464	0.77055	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHACTR3	57751719	1.000000	0.71417	0.958000	0.39756	0.789000	0.44602	8.606000	0.90888	1.910000	0.55303	0.462000	0.41574	.		0.577	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	Intron	A	58318324	G	A	58318324	5	1	66	1	0	0	0	0	0	0	1	0	11811	1275	44	2	287	2	PHACTR3	20	58318324	Splice_Site	SNP	G	TCGA-10-0935-01A-03W-0421-09	46414045	58318324	4707196	45	3367											
SON	6651	genome.wustl.edu	37	21	34926420	34926420	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chr21:34926420T>A	ENST00000356577.4	+	3	5358	c.4883T>A	c.(4882-4884)gTt>gAt	p.V1628D	SON_ENST00000290239.6_Missense_Mutation_p.V1628D|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.V1628D|SON_ENST00000300278.4_Missense_Mutation_p.V1628D	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1628					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V1628D(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AAATATGATGTTGATTTATCT	0.398																																																1	Substitution - Missense(1)	ovary(1)	21											55	56	55					21																	34926420		2203	4299	6502	33848290	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4883T>A	21.37:g.34926420T>A	ENSP00000348984:p.Val1628Asp		33848290	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.77|12.77	2.036220|2.036220	0.35893|0.35893	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.16897	.|2.52;2.5;2.48;2.31	4.35|4.35	1.87|1.87	0.25490|0.25490	.|.	.|0.498297	.|0.16923	.|N	.|0.194018	T|T	0.30541|0.30541	0.0768|0.0768	L|L	0.47716|0.47716	1.5|1.5	0.36064|0.36064	D|D	0.841663|0.841663	.|P;B;B;P;D	.|0.76494	.|0.527;0.392;0.235;0.739;0.999	.|B;B;B;B;D	.|0.73708	.|0.246;0.193;0.246;0.354;0.981	T|T	0.21895|0.21895	-1.0232|-1.0232	5|10	.|0.87932	.|D	.|0	.|.	9.1476|9.1476	0.36942|0.36942	0.0:0.0:0.3594:0.6406|0.0:0.0:0.3594:0.6406	.|.	.|1628;1628;1309;1628;1628	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	M|D	623|1628	.|ENSP00000348984:V1628D;ENSP00000290239:V1628D;ENSP00000300278:V1628D;ENSP00000371095:V1628D	.|ENSP00000290239:V1628D	L|V	+|+	1|2	2|0	SON|SON	33848290|33848290	0.994000|0.994000	0.37717|0.37717	0.992000|0.992000	0.48379|0.48379	0.807000|0.807000	0.45602|0.45602	-0.012000|-0.012000	0.12699|0.12699	0.194000|0.194000	0.20326|0.20326	0.482000|0.482000	0.46254|0.46254	TTG|GTT		0.398	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		A	34926420	T	A	34926420	3	1	66	1	0	0	0	0	1	0	0	0	14929	1725	60	5	4893	5	SON	21	34926420	Missense_Mutation	SNP	T	TCGA-10-0935-01A-03W-0421-09		34926420	13203475	46	3368											
ZFX	7543	genome.wustl.edu	37	X	24226376	24226376	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0935-01A-03W-0421-09	TCGA-10-0935-11A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	af0edbf4-9d90-4373-a9ce-0875ebbe1d04	3cd33d1c-0b1d-4346-840e-ba14b49f52e7	g.chrX:24226376G>A	ENST00000379177.1	+	9	1409	c.982G>A	c.(982-984)Gta>Ata	p.V328I	ZFX_ENST00000539115.1_Missense_Mutation_p.V99I|ZFX_ENST00000338565.3_Missense_Mutation_p.V278I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.V328I|ZFX_ENST00000304543.5_Missense_Mutation_p.V328I|ZFX_ENST00000540034.1_Missense_Mutation_p.V367I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	328					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.V328I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGAAGTGATCGTAGGAGAGGA	0.483																																					Esophageal Squamous(20;306 562 7346 32868 37983)											1	Substitution - Missense(1)	ovary(1)	X											51	51	51					X																	24226376		2203	4300	6503	24136297	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.982G>A	X.37:g.24226376G>A	ENSP00000368475:p.Val328Ile		24136297	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053282	0.55218	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.53	5.53	0.82687	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000016	T	0.65354	0.2683	L	0.52126	1.63	0.43242	D	0.995156	D;B;D;D	0.89917	0.996;0.236;0.985;1.0	P;B;D;D	0.83275	0.842;0.005;0.959;0.996	T	0.65467	-0.6161	10	0.54805	T	0.06	4.5755	18.7183	0.91684	0.0:0.0:1.0:0.0	.	367;97;328;332	B9EG97;F5GYV7;P17010;Q59EB9	.;.;ZFX_HUMAN;.	I	99;328;97;328;328;367;278;123	ENSP00000438233:V99I;ENSP00000368486:V328I;ENSP00000368475:V328I;ENSP00000304985:V328I;ENSP00000441382:V367I;ENSP00000343384:V278I	ENSP00000304985:V328I	V	+	1	0	ZFX	24136297	1.000000	0.71417	0.949000	0.38748	0.963000	0.63663	7.422000	0.80217	2.452000	0.82932	0.600000	0.82982	GTA		0.483	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		A	24226376	G	A	24226376	3	1	66	1	0	0	0	0	1	0	0	0	17661	1145	40	1	1000	1	ZFX	23	24226376	Missense_Mutation	SNP	G	TCGA-10-0935-01A-03W-0421-09		24226376	131044184	47	3369											
PRKCZ	5590	hgsc.bcm.edu	37	1	2082319	2082319	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr1:2082319C>T	ENST00000400921.2	+	6	912	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.R77C	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	260	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R260C(3)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	AGTCATCGGGCGCGGGAGCTA	0.517																																																3	Substitution - Missense(3)	endometrium(2)|ovary(1)	1											79	77	78					1																	2082319		2203	4300	6503	2072179	SO:0001583	missense	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.229C>T	1.37:g.2082319C>T	ENSP00000383712:p.Arg77Cys		2072179	A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434901	0.62955	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000497183	T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;1.85;-0.26;-0.26;-0.26;-0.26	4.8	4.8	0.61643	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	0.82148	0.4974	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84683	0.0718	10	0.87932	D	0	.	12.1602	0.54099	0.1709:0.8291:0.0:0.0	.	156;84;260	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	C	260;77;156;77;77;73;77;77;73	ENSP00000367830:R260C;ENSP00000383712:R77C;ENSP00000426412:R156C;ENSP00000424228:R77C;ENSP00000383711:R77C;ENSP00000424763:R73C;ENSP00000421219:R77C;ENSP00000422764:R73C	ENSP00000367830:R260C	R	+	1	0	PRKCZ	2072179	1.000000	0.71417	0.999000	0.59377	0.682000	0.39822	3.091000	0.50199	2.493000	0.84123	0.591000	0.81541	CGC		0.517	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		T	2082319	C	T	2082319	3	4	67	1	0	0	0	0	1	0	0	0	12520	768	27	1	812	1	PRKCZ	1	2082319	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10		2082319	247168302	1	3370											
CREB3L4	148327	hgsc.bcm.edu	37	1	153941144	153941144	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr1:153941144A>G	ENST00000368607.3	+	2	409	c.143A>G	c.(142-144)cAa>cGa	p.Q48R	CREB3L4_ENST00000271889.4_Missense_Mutation_p.Q48R|CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000368600.3_Intron|CREB3L4_ENST00000368603.1_Missense_Mutation_p.Q48R|CREB3L4_ENST00000368601.1_Missense_Mutation_p.Q48R|RP11-422P24.10_ENST00000608147.1_RNA|SLC39A1_ENST00000310483.6_5'Flank	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	48					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.Q48R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGGACTGCAAGGCTGGAAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											75	78	77					1																	153941144		2203	4300	6503	152207768	SO:0001583	missense	148327			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.143A>G	1.37:g.153941144A>G	ENSP00000357596:p.Gln48Arg		152207768	D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	A	4.930	0.172808	0.09391	.	.	ENSG00000143578	ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000431292	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.61	0.903	0.19296	.	0.931884	0.09017	N	0.860716	T	0.09335	0.0230	N	0.22421	0.69	0.80722	D	1	P;B	0.36535	0.557;0.281	B;B	0.41860	0.368;0.038	T	0.42120	-0.9470	10	0.23891	T	0.37	.	4.8109	0.13342	0.5139:0.3846:0.1015:0.0	.	48;48	B4E2G3;Q8TEY5	.;CR3L4_HUMAN	R	48	ENSP00000357596:Q48R;ENSP00000271889:Q48R;ENSP00000357590:Q48R;ENSP00000357592:Q48R;ENSP00000402308:Q48R	ENSP00000271889:Q48R	Q	+	2	0	CREB3L4	152207768	0.009000	0.17119	0.952000	0.39060	0.447000	0.32167	-0.050000	0.11904	0.313000	0.23062	0.459000	0.35465	CAA		0.602	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		G	153941144	A	G	153941144	3	3	67	1	0	0	0	0	1	0	0	0	3859	130	5	4	145	4	CREB3L4	1	153941144	Missense_Mutation	SNP	A	TCGA-10-0937-01A-02W-0419-10	151858825	153941144	95309477	2	3371											
RASSF5	83593	hgsc.bcm.edu	37	1	206760175	206760175	+	Silent	SNP	C	C	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr1:206760175C>A	ENST00000355294.4	+	6	1179	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_Missense_Mutation_p.P336T|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000304534.8_Silent_p.I221I	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	374	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.I374I(1)|p.I221I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCTTCTCCATCCCTGAACTTC	0.473																																					GBM(162;656 1984 11916 22872 31529)											2	Substitution - coding silent(2)	ovary(2)	1											146	148	147					1																	206760175		2203	4300	6503	204826798	SO:0001819	synonymous_variant	83593			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1122C>A	1.37:g.206760175C>A			204826798	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779761	0.49891	.	.	ENSG00000136653	ENST00000367117	T	0.14022	2.54	5.82	3.92	0.45320	.	.	.	.	.	T	0.11367	0.0277	.	.	.	0.80722	D	1	B	0.24426	0.103	B	0.23419	0.046	T	0.08432	-1.0722	8	0.87932	D	0	-14.6524	5.963	0.19310	0.1548:0.6896:0.0:0.1556	.	336	Q8WWW0-3	.	T	336	ENSP00000356084:P336T	ENSP00000356084:P336T	P	+	1	0	RASSF5	204826798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.898000	0.28404	0.764000	0.33197	0.655000	0.94253	CCC		0.473	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		A	206760175	C	A	206760175	2	1	67	1	0	0	0	0	0	0	0	1	13092	855	30	3		3	RASSF5	1	206760175	Silent	SNP	C	TCGA-10-0937-01A-02W-0419-10	52819031	206760175	42490446	3	3372											
BPNT1	10380	hgsc.bcm.edu	37	1	220253167	220253167	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr1:220253167A>C	ENST00000469520.2	-	3	471	c.22T>G	c.(22-24)Ttg>Gtg	p.L8V	BPNT1_ENST00000322067.7_Missense_Mutation_p.L8V|BPNT1_ENST00000414869.2_Missense_Mutation_p.L8V|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.L8V|BPNT1_ENST00000544404.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	8					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)	p.L8V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AACCGCATCAACACAGTGTTA	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											99	87	91					1																	220253167		1902	4114	6016	218319790	SO:0001583	missense	10380			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.22T>G	1.37:g.220253167A>C	ENSP00000446828:p.Leu8Val		218319790	A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	A	9.870	1.198596	0.22121	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.51	-1.67	0.08238	.	0.145283	0.42172	D	0.000758	T	0.76723	0.4027	L	0.28740	0.885	0.80722	D	1	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.29785	0.107;0.072;0.082	T	0.60777	-0.7196	10	0.33940	T	0.23	.	13.7995	0.63190	0.3487:0.0:0.6513:0.0	.	8;8;8	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	V	8	ENSP00000318852:L8V;ENSP00000446828:L8V;ENSP00000346862:L8V;ENSP00000410348:L8V;ENSP00000446953:L8V;ENSP00000446850:L8V;ENSP00000449883:L8V	ENSP00000307087:L8V	L	-	1	2	BPNT1	218319790	0.829000	0.29322	0.979000	0.43373	0.513000	0.34164	0.124000	0.15728	-0.561000	0.06094	-0.341000	0.08007	TTG		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		C	220253167	A	C	220253167	3	2	67	1	0	0	0	0	1	0	0	0	1494	40	2	5	936	5	BPNT1	1	220253167	Missense_Mutation	SNP	A	TCGA-10-0937-01A-02W-0419-10	13492992	220253167	28997454	4	3373											
FAM177B	400823	hgsc.bcm.edu	37	1	222922897	222922897	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr1:222922897A>C	ENST00000445590.2	+	5	598	c.332A>C	c.(331-333)cAa>cCa	p.Q111P	FAM177B_ENST00000360827.2_Missense_Mutation_p.Q111P	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	111								p.Q111P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TATAGGATACAAAACAAGGTA	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											82	73	76					1																	222922897		1860	4091	5951	220989520	SO:0001583	missense	400823			AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.332A>C	1.37:g.222922897A>C	ENSP00000414451:p.Gln111Pro		220989520	Q6ZUN8	Missense_Mutation	SNP	ENST00000445590.2	37	CCDS1535.2	.	.	.	.	.	.	.	.	.	.	a	13.24	2.178424	0.38511	.	.	ENSG00000197520	ENST00000445590;ENST00000360827	T;T	0.35605	1.3;1.3	5.05	3.92	0.45320	.	.	.	.	.	T	0.55878	0.1948	M	0.75777	2.31	0.19575	N	0.999969	D	0.76494	0.999	D	0.74674	0.984	T	0.45629	-0.9248	9	0.72032	D	0.01	.	7.459	0.27283	0.9001:0.0:0.0999:0.0	.	111	A6PVY3	F177B_HUMAN	P	111	ENSP00000414451:Q111P;ENSP00000354070:Q111P	ENSP00000354070:Q111P	Q	+	2	0	FAM177B	220989520	0.159000	0.22864	0.017000	0.16124	0.436000	0.31835	3.358000	0.52284	0.777000	0.33496	0.477000	0.44152	CAA		0.393	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092151.2	NM_207468		C	222922897	A	C	222922897	3	2	67	1	0	0	0	0	1	0	0	0	5502	130	5	5	342	5	FAM177B	1	222922897	Missense_Mutation	SNP	A	TCGA-10-0937-01A-02W-0419-10	2669730	222922897	26327724	5	3374											
PPIG	9360	hgsc.bcm.edu	37	2	170493409	170493409	+	Silent	SNP	A	A	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr2:170493409A>G	ENST00000260970.3	+	14	1861	c.1641A>G	c.(1639-1641)agA>agG	p.R547R	PPIG_ENST00000409714.3_Silent_p.R532R|PPIG_ENST00000448752.2_Silent_p.R547R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	547	Arg/Ser-rich (RS domain).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R547R(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CCAGGAGTAGAGAATGTGATA	0.388																																																1	Substitution - coding silent(1)	ovary(1)	2											84	81	82					2																	170493409		2203	4300	6503	170201655	SO:0001819	synonymous_variant	9360			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1641A>G	2.37:g.170493409A>G			170201655	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	CCDS2235.1																																																																																				0.388	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			G	170493409	A	G	170493409	2	3	67	1	0	0	0	0	0	0	0	1	12327	301	11	4		4	PPIG	2	170493409	Silent	SNP	A	TCGA-10-0937-01A-02W-0419-10		170493409	72705964	6	3375											
HJURP	55355	hgsc.bcm.edu	37	2	234750096	234750096	+	Missense_Mutation	SNP	C	C	T	rs546977139		TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr2:234750096C>T	ENST00000411486.2	-	8	1395	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	HJURP_ENST00000441687.1_Missense_Mutation_p.E359K|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Missense_Mutation_p.E390K	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	444					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.E444K(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AGGCAATATTCCCGATGAAGC	0.532													C|||	1	0.000199681	0	0	5008	,	,		17779	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	2											98	98	98					2																	234750096		2203	4300	6503	234414835	SO:0001583	missense	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1330G>A	2.37:g.234750096C>T	ENSP00000414109:p.Glu444Lys		234414835	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777771	0.49786	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.35	0.601	0.17529	Holliday junction regulator protein family C-terminal repeat (1);	0.674446	0.14356	N	0.324774	T	0.49081	0.1536	L	0.61218	1.895	0.09310	N	1	B;B;B	0.32862	0.336;0.15;0.387	B;B;B	0.31016	0.044;0.044;0.123	T	0.45454	-0.9260	10	0.87932	D	0	-14.6442	6.5845	0.22612	0.0:0.6012:0.0:0.3988	.	359;390;444	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	K	444;390;359;359	ENSP00000414109:E444K;ENSP00000407208:E390K;ENSP00000401944:E359K;ENSP00000393253:E359K	ENSP00000414109:E444K	E	-	1	0	HJURP	234414835	0.005000	0.15991	0.002000	0.10522	0.007000	0.05969	0.565000	0.23578	0.093000	0.17368	-0.793000	0.03317	GAA		0.532	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		T	234750096	C	T	234750096	3	4	67	1	0	0	0	0	1	0	0	0	7189	864	30	2	924	2	HJURP	2	234750096	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10	64256687	234750096	8449277	7	3376											
SCAP	22937	hgsc.bcm.edu	37	3	47484372	47484372	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr3:47484372A>C	ENST00000265565.5	-	2	524	c.112T>G	c.(112-114)Tta>Gta	p.L38V	SCAP_ENST00000441517.2_5'UTR|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	38					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.L38V(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAGCAGGCTAAGATGCAGAAC	0.512																																					Pancreas(149;978 1908 29304 37806 46700)											1	Substitution - Missense(1)	ovary(1)	3											141	122	128					3																	47484372		2203	4300	6503	47459376	SO:0001583	missense	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.112T>G	3.37:g.47484372A>C	ENSP00000265565:p.Leu38Val		47459376	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698582	0.48307	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603;ENST00000448217	D	0.86230	-2.09	4.75	-0.684	0.11331	.	0.097415	0.39909	N	0.001240	T	0.80358	0.4608	M	0.62723	1.935	0.80722	D	1	B	0.09022	0.002	B	0.16722	0.016	T	0.63528	-0.6617	10	0.24483	T	0.36	0.1046	5.4434	0.16521	0.5559:0.1393:0.3049:0.0	.	38	Q12770	SCAP_HUMAN	V	38	ENSP00000265565:L38V	ENSP00000265565:L38V	L	-	1	2	SCAP	47459376	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.371000	0.34250	-0.258000	0.09446	0.454000	0.30748	TTA		0.512	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		C	47484372	A	C	47484372	3	2	67	1	0	0	0	0	1	0	0	0	13880	69	3	5	3815	5	SCAP	3	47484372	Missense_Mutation	SNP	A	TCGA-10-0937-01A-02W-0419-10		47484372	150538058	8	3377											
PLSCR1	5359	hgsc.bcm.edu	37	3	146246450	146246450	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr3:146246450G>A	ENST00000342435.4	-	4	673	c.263C>T	c.(262-264)gCg>gTg	p.A88V	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.A81V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	88					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)	p.A88V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						AGGCTGTGGCGCTGGCATCCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	3											99	104	103					3																	146246450		2203	4300	6503	147729140	SO:0001583	missense	5359			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.263C>T	3.37:g.146246450G>A	ENSP00000345494:p.Ala88Val		147729140	B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	CCDS3135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.71|10.71	1.425618|1.425618	0.25639|0.25639	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349|ENST00000483300	T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|.	.|.	.|.	.|.	T|T	0.57198|0.57198	0.2037|0.2037	L|L	0.41961|0.41961	1.31|1.31	0.80722|0.80722	D|D	1|1	D;P|.	0.71674|.	0.998;0.875|.	P;B|.	0.53760|.	0.734;0.121|.	T|T	0.53872|0.53872	-0.8377|-0.8377	9|5	0.24483|.	T|.	0.36|.	.|.	11.5728|11.5728	0.50843|0.50843	0.096:0.0:0.904:0.0|0.096:0.0:0.904:0.0	.|.	88;88|.	Q8WVK1;O15162|.	.;PLS1_HUMAN|.	V|C	88;81;88;88|30	ENSP00000345494:A88V;ENSP00000417792:A81V;ENSP00000418103:A88V;ENSP00000420523:A88V|.	ENSP00000345494:A88V|.	A|R	-|-	2|1	0|0	PLSCR1|PLSCR1	147729140|147729140	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.086000|0.086000	0.17979|0.17979	3.145000|3.145000	0.50623|0.50623	2.197000|2.197000	0.70478|0.70478	0.491000|0.491000	0.48974|0.48974	GCG|CGC		0.463	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		A	146246450	G	A	146246450	3	1	67	1	0	0	0	0	1	0	0	0	12109	1087	38	1	717	1	PLSCR1	3	146246450	Missense_Mutation	SNP	G	TCGA-10-0937-01A-02W-0419-10	98762078	146246450	51775980	9	3378											
UGDH	7358	hgsc.bcm.edu	37	4	39511972	39511972	+	Splice_Site	SNP	C	C	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr4:39511972C>A	ENST00000316423.6	-	5	1006		c.e5+1		UGDH_ENST00000506179.1_Splice_Site|UGDH_ENST00000507089.1_Splice_Site|UGDH_ENST00000501493.2_Splice_Site|UGDH_ENST00000515398.1_5'Flank	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase						cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TATATACTAACCAGTTTGGAA	0.378																																																1	Unknown(1)	ovary(1)	4											85	90	88					4																	39511972		2203	4300	6503	39188367	SO:0001630	splice_region_variant	7358			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.663+1G>T	4.37:g.39511972C>A			39188367	B3KUU2|B4DN25|O60589	Splice_Site	SNP	ENST00000316423.6	37	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.143221	0.77888	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0677	0.93119	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGDH	39188367	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	7.266000	0.78452	2.747000	0.94245	0.650000	0.86243	.		0.378	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359	Intron	A	39511972	C	A	39511972	5	1	67	1	0	0	0	0	0	0	1	0	16940	521	18	3	852	3	UGDH	4	39511972	Splice_Site	SNP	C	TCGA-10-0937-01A-02W-0419-10		39511972	151642304	10	3379											
ADCY2	108	hgsc.bcm.edu	37	5	7520994	7520994	+	Silent	SNP	G	G	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr5:7520994G>A	ENST00000338316.4	+	3	641	c.552G>A	c.(550-552)aaG>aaA	p.K184K		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	184					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.K184K(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGGGAGGCAAGGAGCACCTGG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	5											160	109	126					5																	7520994		2203	4300	6503	7573994	SO:0001819	synonymous_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.552G>A	5.37:g.7520994G>A			7573994	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																				0.612	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7520994	G	A	7520994	2	1	67	1	0	0	0	0	0	0	0	1	294	991	35	2		2	ADCY2	5	7520994	Silent	SNP	G	TCGA-10-0937-01A-02W-0419-10		7520994	173394266	11	3380											
ANXA6	309	hgsc.bcm.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	T	rs370325414		TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr5:150512081C>T	ENST00000354546.5	-	10	919	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ANXA6_ENST00000356496.5_Missense_Mutation_p.R231Q|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.R199Q|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	231					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552																																																1	Substitution - Missense(1)	ovary(1)	5						C	GLN/ARG,GLN/ARG	2,3832		0,2,1915	50	52	51		692,596	5.3	1	5		51	0,8256		0,0,4128	no	missense,missense	ANXA6	NM_001155.4,NM_001193544.1	43,43	0,2,6043	TT,TC,CC		0.0,0.0522,0.0165	possibly-damaging,possibly-damaging	231/674,199/642	150512081	2,12088	1917	4128	6045	150492274	SO:0001583	missense	309			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.692G>A	5.37:g.150512081C>T	ENSP00000346550:p.Arg231Gln		150492274	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792333	0.70452	5.22E-4	0.0	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.03094	4.05;4.05;4.05	5.31	5.31	0.75309	Annexin repeat, conserved site (1);	0.269315	0.37715	N	0.001970	T	0.02119	0.0066	N	0.05158	-0.105	0.43734	D	0.996229	P;D	0.53312	0.912;0.959	B;B	0.34489	0.089;0.184	T	0.63686	-0.6581	10	0.51188	T	0.08	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	231;231	A6NN80;P08133	.;ANXA6_HUMAN	Q	231;199;231;105	ENSP00000346550:R231Q;ENSP00000430517:R199Q;ENSP00000348889:R231Q	ENSP00000346550:R231Q	R	-	2	0	ANXA6	150492274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.008000	0.57103	2.487000	0.83934	0.650000	0.86243	CGA		0.552	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		T	150512081	C	T	150512081	3	4	67	1	0	0	0	0	1	0	0	0	722	884	31	1	1397	1	ANXA6	5	150512081	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10	142991087	150512081	30403179	12	3381											
FAM71B	153745	hgsc.bcm.edu	37	5	156590102	156590102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr5:156590102C>A	ENST00000302938.4	-	2	1269	c.1174G>T	c.(1174-1176)Gga>Tga	p.G392*		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	392						nucleus (GO:0005634)		p.G392*(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGCTGGTCCTTCAGTTCTT	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	5											58	61	60					5																	156590102		2203	4300	6503	156522680	SO:0001587	stop_gained	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1174G>T	5.37:g.156590102C>A	ENSP00000305596:p.Gly392*		156522680	Q1EDD9|Q8TC64|Q96LY8	Nonsense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390720	0.62066	.	.	ENSG00000170613	ENST00000302938	.	.	.	2.93	0.881	0.19166	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	7.5837	0.27980	0.4561:0.5439:0.0:0.0	.	.	.	.	X	392	.	ENSP00000305596:G392X	G	-	1	0	FAM71B	156522680	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.303000	0.08210	0.043000	0.15746	0.313000	0.20887	GGA		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		A	156590102	C	A	156590102	4	1	67	1	0	0	0	0	0	1	0	0	5608	690	24	3	647	3	FAM71B	5	156590102	Nonsense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10	6078021	156590102	24325158	13	3382											
PTPN12	5782	hgsc.bcm.edu	37	7	77247807	77247807	+	Missense_Mutation	SNP	A	A	T	rs375165418		TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr7:77247807A>T	ENST00000248594.6	+	12	1222	c.950A>T	c.(949-951)aAc>aTc	p.N317I	PTPN12_ENST00000435495.2_Missense_Mutation_p.N187I|PTPN12_ENST00000415482.2_Missense_Mutation_p.N198I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	317					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.N317I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AATGAAATTAACACTGAAAAC	0.363																																																1	Substitution - Missense(1)	ovary(1)	7						A	ILE/ASN,ILE/ASN,ILE/ASN	1,4405	2.1+/-5.4	0,1,2202	109	115	113		593,560,950	-2.7	1	7		113	0,8600		0,0,4300	no	missense,missense,missense	PTPN12	NM_001131008.1,NM_001131009.1,NM_002835.3	149,149,149	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	benign,benign,benign	198/662,187/651,317/781	77247807	1,13005	2203	4300	6503	77085743	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.950A>T	7.37:g.77247807A>T	ENSP00000248594:p.Asn317Ile		77085743	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169881	0.38315	2.27E-4	0.0	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.31510	1.49;1.49;1.49	5.21	-2.7	0.06004	.	0.550358	0.21140	N	0.079487	T	0.19525	0.0469	L	0.47716	1.5	0.29777	N	0.834303	P	0.35923	0.528	B	0.33521	0.165	T	0.13575	-1.0504	10	0.33940	T	0.23	.	6.9361	0.24466	0.5076:0.1529:0.3395:0.0	.	317	Q05209	PTN12_HUMAN	I	317;198;198;187	ENSP00000248594:N317I;ENSP00000392429:N198I;ENSP00000397991:N187I	ENSP00000248594:N317I	N	+	2	0	PTPN12	77085743	0.900000	0.30661	0.959000	0.39883	0.573000	0.36030	0.958000	0.29227	-0.232000	0.09811	0.383000	0.25322	AAC		0.363	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			T	77247807	A	T	77247807	3	4	67	1	0	0	0	0	1	0	0	0	12784	43	2	5	996	5	PTPN12	7	77247807	Missense_Mutation	SNP	A	TCGA-10-0937-01A-02W-0419-10		77247807	81890856	14	3383											
PCLO	27445	hgsc.bcm.edu	37	7	82390692	82390692	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr7:82390692G>A	ENST00000333891.9	-	23	15462	c.15125C>T	c.(15124-15126)tCt>tTt	p.S5042F		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S5042F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGATCAGGAGACTTAAATTT	0.294																																																1	Substitution - Missense(1)	ovary(1)	7											101	90	94					7																	82390692		1799	4050	5849	82228628	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15125C>T	7.37:g.82390692G>A	ENSP00000334319:p.Ser5042Phe		82228628		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798489	0.31777	.	.	ENSG00000186472	ENST00000333891	T	0.08282	3.11	5.33	5.33	0.75918	.	0.362654	0.19574	U	0.111027	T	0.29190	0.0726	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00878	-1.1530	10	0.87932	D	0	.	19.0273	0.92937	0.0:0.0:1.0:0.0	.	5042	Q9Y6V0-5	.	F	5042	ENSP00000334319:S5042F	ENSP00000334319:S5042F	S	-	2	0	PCLO	82228628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.334000	0.65923	2.470000	0.83445	0.650000	0.86243	TCT		0.294	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82390692	G	A	82390692	3	1	67	1	0	0	0	0	1	0	0	0	11583	942	33	2	315	2	PCLO	7	82390692	Missense_Mutation	SNP	G	TCGA-10-0937-01A-02W-0419-10	5142885	82390692	76747971	15	3384											
FBXO24	26261	hgsc.bcm.edu	37	7	100192162	100192162	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr7:100192162C>G	ENST00000241071.6	+	6	1272	c.950C>G	c.(949-951)aCa>aGa	p.T317R	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.T303R|FBXO24_ENST00000427939.2_Missense_Mutation_p.T355R|FBXO24_ENST00000465843.1_Missense_Mutation_p.T303R|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.T305R	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	317					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.T317R(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCTACGTCACAGGTATGGAC	0.597																																																1	Substitution - Missense(1)	ovary(1)	7											79	55	63					7																	100192162		2203	4300	6503	100030098	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.950C>G	7.37:g.100192162C>G	ENSP00000241071:p.Thr317Arg		100030098	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729847	0.48833	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	D;T;T;D;D	0.83250	-1.7;0.44;0.44;-1.7;-1.7	5.03	5.03	0.67393	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000004	D	0.82388	0.5026	N	0.08118	0	0.49483	D	0.999798	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.96	D;P;D;D;P	0.80764	0.994;0.897;0.994;0.994;0.663	D	0.86355	0.1713	10	0.87932	D	0	-8.1608	15.9481	0.79809	0.0:1.0:0.0:0.0	.	305;355;317;317;303	B4DY42;B4DX91;A4D2D3;O75426;O75426-2	.;.;.;FBX24_HUMAN;.	R	317;303;303;305;355	ENSP00000241071:T317R;ENSP00000353821:T303R;ENSP00000419602:T303R;ENSP00000420239:T305R;ENSP00000416558:T355R	ENSP00000241071:T317R	T	+	2	0	FBXO24	100030098	0.990000	0.36364	0.959000	0.39883	0.042000	0.13812	3.161000	0.50747	2.646000	0.89796	0.478000	0.44815	ACA		0.597	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			G	100192162	C	G	100192162	3	3	67	1	0	0	0	0	1	0	0	0	5735	478	17	3	1129	3	FBXO24	7	100192162	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10	17801470	100192162	58946501	16	3385											
NUP205	23165	hgsc.bcm.edu	37	7	135258567	135258567	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr7:135258567C>A	ENST00000285968.6	+	3	363	c.337C>A	c.(337-339)Ctt>Att	p.L113I	NUP205_ENST00000440390.2_De_novo_Start_InFrame	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	113					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.L113I(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGAGCTTCTTCTTGCTGGTAG	0.333																																																1	Substitution - Missense(1)	ovary(1)	7											91	85	87					7																	135258567		2203	4300	6503	134909107	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.337C>A	7.37:g.135258567C>A	ENSP00000285968:p.Leu113Ile		134909107	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765659	0.49574	.	.	ENSG00000155561	ENST00000285968	T	0.37915	1.17	5.1	3.01	0.34805	.	0.132141	0.48767	D	0.000166	T	0.50752	0.1634	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.46610	-0.9179	10	0.44086	T	0.13	-31.1385	9.3618	0.38201	0.0:0.723:0.0:0.277	.	113	Q92621	NU205_HUMAN	I	113	ENSP00000285968:L113I	ENSP00000285968:L113I	L	+	1	0	NUP205	134909107	0.996000	0.38824	0.986000	0.45419	0.971000	0.66376	2.443000	0.44881	1.152000	0.42452	0.484000	0.47621	CTT		0.333	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			A	135258567	C	A	135258567	3	1	67	1	0	0	0	0	1	0	0	0	10759	913	32	3	347	3	NUP205	7	135258567	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10	35066405	135258567	23880096	17	3386											
OTUD6B	51633	hgsc.bcm.edu	37	8	92082606	92082606	+	Silent	SNP	G	G	T			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr8:92082606G>T	ENST00000285420.4	+	1	183	c.84G>T	c.(82-84)ctG>ctT	p.L28L	GS1-251I9.4_ENST00000522817.1_RNA|OTUD6B_ENST00000404789.3_5'UTR|GS1-251I9.4_ENST00000524003.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	0							cysteine-type peptidase activity (GO:0008234)	p.L28L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TGGGGTACCTGGTCGTCATGG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	8											94	96	95					8																	92082606		2203	4300	6503	92151782	SO:0001819	synonymous_variant	51633				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.84G>T	8.37:g.92082606G>T			92151782	A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Silent	SNP	ENST00000285420.4	37	CCDS6253.2																																																																																				0.592	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		T	92082606	G	T	92082606	2	4	67	1	0	0	0	0	0	0	0	1	11317	1335	47	3		3	OTUD6B	8	92082606	Silent	SNP	G	TCGA-10-0937-01A-02W-0419-10		92082606	54281416	18	3387											
ZER1	10444	hgsc.bcm.edu	37	9	131516172	131516172	+	Silent	SNP	C	C	T	rs141354360		TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr9:131516172C>T	ENST00000291900.2	-	3	631	c.225G>A	c.(223-225)tcG>tcA	p.S75S	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	75					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.S75S(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TGCGGGGGTCCGAAAAGAGGC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	9						C		1,4403		0,1,2201	37	26	30		225	-10.8	0	9	dbSNP_134	30	0,8600		0,0,4300	no	coding-synonymous	ZER1	NM_006336.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		75/767	131516172	1,13003	2202	4300	6502	130555993	SO:0001819	synonymous_variant	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.225G>A	9.37:g.131516172C>T			130555993	O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	CCDS6910.1																																																																																				0.632	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		T	131516172	C	T	131516172	2	4	67	1	0	0	0	0	0	0	0	1	17625	639	23	1		1	ZER1	9	131516172	Silent	SNP	C	TCGA-10-0937-01A-02W-0419-10		131516172	9697259	19	3388											
JMJD1C	221037	hgsc.bcm.edu	37	10	64954071	64954071	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr10:64954071C>T	ENST00000399262.2	-	14	5927	c.5709G>A	c.(5707-5709)atG>atA	p.M1903I	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.M1721I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.M1684I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1903					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.M1684I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTGGGTTGGCATTAAATGTT	0.353																																																1	Substitution - Missense(1)	ovary(1)	10											170	157	161					10																	64954071		1862	4110	5972	64624077	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5709G>A	10.37:g.64954071C>T	ENSP00000382204:p.Met1903Ile		64624077	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696240|3.696240	0.68386|0.68386	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000542921	.|D;T;T	.|0.87966	.|-2.32;0.26;0.58	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90868|0.90868	0.7131|0.7131	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.44986	.|0.847;0.847;0.731	.|B;B;P	.|0.46208	.|0.214;0.214;0.507	D|D	0.91802|0.91802	0.5452|0.5452	5|10	.|0.62326	.|D	.|0.03	-13.3165|-13.3165	19.3354|19.3354	0.94316|0.94316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1444;1903;1721	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	Y|I	450|1903;1684;1721	.|ENSP00000382204:M1903I;ENSP00000384990:M1684I;ENSP00000444682:M1721I	.|ENSP00000382204:M1903I	C|M	-|-	2|3	0|0	JMJD1C|JMJD1C	64624077|64624077	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.911000|5.911000	0.69939|0.69939	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	TGC|ATG		0.353	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		T	64954071	C	T	64954071	3	4	67	1	0	0	0	0	1	0	0	0	7950	710	25	2	1965	2	JMJD1C	10	64954071	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10		64954071	70580676	20	3389											
ADAMTS14	140766	hgsc.bcm.edu	37	10	72489923	72489923	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr10:72489923C>A	ENST00000373207.1	+	6	1020	c.1020C>A	c.(1018-1020)caC>caA	p.H340Q	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.H340Q	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	340	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H340Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCTGGGCACACTCCCAGCAGC	0.652																																																1	Substitution - Missense(1)	ovary(1)	10											80	72	75					10																	72489923		2203	4300	6503	72159929	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1020C>A	10.37:g.72489923C>A	ENSP00000362303:p.His340Gln		72159929	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594421	0.28445	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61742	0.08;0.08	4.7	-0.705	0.11252	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.358636	0.28371	N	0.015591	T	0.23611	0.0571	N	0.04669	-0.19	0.29650	N	0.844066	B;B	0.12013	0.005;0.005	B;B	0.15870	0.014;0.014	T	0.05989	-1.0852	10	0.19147	T	0.46	.	1.3485	0.02168	0.1262:0.3438:0.2466:0.2834	.	340;340	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	Q	340	ENSP00000362304:H340Q;ENSP00000362303:H340Q	ENSP00000362303:H340Q	H	+	3	2	ADAMTS14	72159929	1.000000	0.71417	0.111000	0.21465	0.863000	0.49368	1.434000	0.34958	-0.204000	0.10235	-0.768000	0.03414	CAC		0.652	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		A	72489923	C	A	72489923	3	1	67	1	0	0	0	0	1	0	0	0	259	564	20	3	1042	3	ADAMTS14	10	72489923	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10	7535852	72489923	63044824	21	3390											
ARMS2	387715	hgsc.bcm.edu	37	10	124214258	124214258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr10:124214258C>A	ENST00000528446.1	+	1	90	c.15C>A	c.(13-15)taC>taA	p.Y5*		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	5					retina homeostasis (GO:0001895)	mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917)		p.Y5*(1)		ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCGCCTATACCCAGGACCGA	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	10											90	95	93					10																	124214258		2065	4203	6268	124204248	SO:0001587	stop_gained	387715			BC066349	CCDS53585.1	10q26.13	2013-01-23			ENSG00000254636	ENSG00000254636			32685	protein-coding gene	gene with protein product		611313				16080115, 16174643	Standard	NM_001099667		Approved	LOC387715, ARMD8	uc001lgi.3	P0C7Q2	OTTHUMG00000048232	ENST00000528446.1:c.15C>A	10.37:g.124214258C>A	ENSP00000436682:p.Tyr5*		124204248	B2Y7I5	Nonsense_Mutation	SNP	ENST00000528446.1	37	CCDS53585.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207839	0.39003	.	.	ENSG00000254636	ENST00000528446	.	.	.	1.78	-0.575	0.11734	.	.	.	.	.	.	.	.	.	.	.	0.52099	A	0.999944	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	2.2155	0.03958	0.0:0.352:0.3382:0.3098	.	.	.	.	X	5	.	ENSP00000436682:Y5X	Y	+	3	2	ARMS2	124204248	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.067000	0.11579	-0.139000	0.11414	-0.182000	0.12963	TAC		0.567	ARMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109727.2			A	124214258	C	A	124214258	4	1	67	1	0	0	0	0	0	1	0	0	964	518	18	3	17	3	ARMS2	10	124214258	Nonsense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10	51724335	124214258	11320489	22	3391											
RAG2	5897	hgsc.bcm.edu	37	11	36614566	36614566	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr11:36614566A>G	ENST00000311485.3	-	2	1314	c.1153T>C	c.(1153-1155)Tgt>Cgt	p.C385R	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	385					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.C385R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GCACTGAAACAAAATTCTTCA	0.383									Familial Hemophagocytic Lymphohistiocytosis																																							1	Substitution - Missense(1)	ovary(1)	11											133	130	131					11																	36614566		2202	4298	6500	36571142	SO:0001583	missense	5897	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1153T>C	11.37:g.36614566A>G	ENSP00000308620:p.Cys385Arg		36571142	A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539259	0.45176	.	.	ENSG00000175097	ENST00000311485	D	0.89875	-2.58	5.45	5.45	0.79879	.	0.193425	0.47093	D	0.000242	D	0.92782	0.7705	M	0.73962	2.25	0.51012	D	0.999903	D	0.69078	0.997	D	0.65874	0.939	D	0.93084	0.6494	10	0.72032	D	0.01	-10.0296	9.7781	0.40632	0.7351:0.0:0.0:0.2649	.	385	P55895	RAG2_HUMAN	R	385	ENSP00000308620:C385R	ENSP00000308620:C385R	C	-	1	0	RAG2	36571142	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.652000	0.67959	2.192000	0.70111	0.528000	0.53228	TGT		0.383	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		G	36614566	A	G	36614566	3	3	67	1	0	0	0	0	1	0	0	0	13008	130	5	4	434	4	RAG2	11	36614566	Missense_Mutation	SNP	A	TCGA-10-0937-01A-02W-0419-10		36614566	98391950	23	3392											
MMP3	4314	hgsc.bcm.edu	37	11	102709964	102709964	+	Missense_Mutation	SNP	G	G	A	rs147533686		TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr11:102709964G>A	ENST00000299855.5	-	7	1202	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	316					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R316C(3)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AGGGATTTGCGCCAAAAGTGC	0.403													G|||	1	0.000199681	8e-04	0	5008	,	,		17541	0		0	False		,,,				2504	0															3	Substitution - Missense(3)	ovary(1)|lung(1)|kidney(1)	11						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	84	82		946	5.7	1	11	dbSNP_134	82	0,8598		0,0,4299	no	missense	MMP3	NM_002422.3	180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	316/478	102709964	1,13003	2203	4299	6502	102215174	SO:0001583	missense	4314			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.946C>T	11.37:g.102709964G>A	ENSP00000299855:p.Arg316Cys		102215174	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	CCDS8323.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.4	4.285195	0.80803	2.27E-4	0.0	ENSG00000149968	ENST00000299855	T	0.04454	3.62	5.65	5.65	0.86999	Hemopexin/matrixin (2);	0.000000	0.36740	N	0.002424	T	0.37571	0.1008	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54886	-0.8226	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	316	P08254	MMP3_HUMAN	C	316	ENSP00000299855:R316C	ENSP00000299855:R316C	R	-	1	0	MMP3	102215174	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.837000	0.55820	2.941000	0.99782	0.655000	0.94253	CGC		0.403	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		A	102709964	G	A	102709964	3	1	67	1	0	0	0	0	1	0	0	0	9666	1087	38	1	503	1	MMP3	11	102709964	Missense_Mutation	SNP	G	TCGA-10-0937-01A-02W-0419-10	66095398	102709964	32296552	24	3393											
NCAPD2	9918	hgsc.bcm.edu	37	12	6635291	6635291	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr12:6635291T>G	ENST00000315579.5	+	19	3205	c.2406T>G	c.(2404-2406)gaT>gaG	p.D802E	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.D757E	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	802					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.D802E(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TAGGGCTGGATGAGAAGTTTC	0.512																																																1	Substitution - Missense(1)	ovary(1)	12											84	81	82					12																	6635291		2203	4300	6503	6505552	SO:0001583	missense	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2406T>G	12.37:g.6635291T>G	ENSP00000325017:p.Asp802Glu		6505552	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	T	3.563	-0.089295	0.07097	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.91577	-2.87;-2.87;-2.87	5.8	-11.6	0.00059	Armadillo-type fold (1);	0.439614	0.27122	N	0.020836	T	0.65678	0.2714	N	0.02011	-0.69	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.58075	-0.7700	10	0.44086	T	0.13	-0.7624	6.1981	0.20561	0.1326:0.2088:0.4922:0.1664	.	757;763;802	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	E	802;674;757;674	ENSP00000325017:D802E;ENSP00000371895:D674E;ENSP00000444417:D757E	ENSP00000325017:D802E	D	+	3	2	NCAPD2	6505552	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-3.350000	0.00502	-4.382000	0.00052	-0.250000	0.11733	GAT		0.512	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		G	6635291	T	G	6635291	3	3	67	1	0	0	0	0	1	0	0	0	10205	1461	51	5	2476	5	NCAPD2	12	6635291	Missense_Mutation	SNP	T	TCGA-10-0937-01A-02W-0419-10		6635291	127216604	25	3394											
IFT88	8100	hgsc.bcm.edu	37	13	21230512	21230512	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr13:21230512C>G	ENST00000319980.6	+	24	2365	c.2038C>G	c.(2038-2040)Caa>Gaa	p.Q680E	IFT88_ENST00000537103.1_Missense_Mutation_p.Q652E|IFT88_ENST00000382778.4_Missense_Mutation_p.Q680E|IFT88_ENST00000351808.5_Missense_Mutation_p.Q671E	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	680					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.Q680E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGGTAACTACCAAAAAGCATT	0.269																																																1	Substitution - Missense(1)	ovary(1)	13											49	50	50					13																	21230512		2186	4260	6446	20128512	SO:0001583	missense	8100			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2038C>G	13.37:g.21230512C>G	ENSP00000323580:p.Gln680Glu		20128512	A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253768	0.59212	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.74315	-0.72;-0.83;-0.83;-0.83	5.39	5.39	0.77823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.121150	0.56097	D	0.000024	D	0.87497	0.6192	M	0.88775	2.98	0.80722	D	1	D;P	0.67145	0.996;0.568	P;B	0.61722	0.893;0.321	D	0.89021	0.3435	10	0.54805	T	0.06	-14.7206	18.7629	0.91860	0.0:1.0:0.0:0.0	.	652;680	F5H6C2;Q13099	.;IFT88_HUMAN	E	680;671;680;652	ENSP00000372228:Q680E;ENSP00000261632:Q671E;ENSP00000323580:Q680E;ENSP00000437719:Q652E	ENSP00000323580:Q680E	Q	+	1	0	IFT88	20128512	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	5.983000	0.70540	2.535000	0.85469	0.467000	0.42956	CAA		0.269	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		G	21230512	C	G	21230512	3	3	67	1	0	0	0	0	1	0	0	0	7566	595	21	3	2124	3	IFT88	13	21230512	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10		21230512	93939366	26	3395											
SOCS4	122809	hgsc.bcm.edu	37	14	55510295	55510295	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr14:55510295G>C	ENST00000395472.2	+	2	868	c.536G>C	c.(535-537)aGa>aCa	p.R179T	SOCS4_ENST00000339298.2_Missense_Mutation_p.R179T|SOCS4_ENST00000555846.1_Missense_Mutation_p.R179T	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	179					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.R179T(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CTAAAACGAAGAAATATGGAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	14											85	79	81					14																	55510295		2203	4300	6503	54580048	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.536G>C	14.37:g.55510295G>C	ENSP00000378855:p.Arg179Thr		54580048		Missense_Mutation	SNP	ENST00000395472.2	37	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	2.707	-0.269725	0.05716	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.31510	1.49;1.49;1.49	5.45	5.45	0.79879	.	0.396263	0.24352	N	0.039264	T	0.21186	0.0510	N	0.22421	0.69	0.09310	N	1	B	0.32245	0.361	B	0.31686	0.134	T	0.14952	-1.0454	10	0.30854	T	0.27	-8.8083	12.7572	0.57341	0.0741:0.0:0.9259:0.0	.	179	Q8WXH5	SOCS4_HUMAN	T	179	ENSP00000378855:R179T;ENSP00000452522:R179T;ENSP00000341327:R179T	ENSP00000341327:R179T	R	+	2	0	SOCS4	54580048	0.968000	0.33430	0.057000	0.19452	0.002000	0.02628	3.806000	0.55583	2.835000	0.97688	0.650000	0.86243	AGA		0.398	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			C	55510295	G	C	55510295	3	2	67	1	0	0	0	0	1	0	0	0	14919	942	33	3	538	3	SOCS4	14	55510295	Missense_Mutation	SNP	G	TCGA-10-0937-01A-02W-0419-10		55510295	51839245	27	3396											
SPTB	6710	hgsc.bcm.edu	37	14	65252635	65252635	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr14:65252635G>C	ENST00000389721.5	-	16	3628	c.3596C>G	c.(3595-3597)tCc>tGc	p.S1199C	SPTB_ENST00000389720.3_Missense_Mutation_p.S1199C|SPTB_ENST00000389722.3_Missense_Mutation_p.S1199C|SPTB_ENST00000542895.1_Missense_Mutation_p.S1199C|SPTB_ENST00000556626.1_Missense_Mutation_p.S1199C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1199					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.S1199C(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCTTCCAGGGAGTCTGGGGG	0.532																																																1	Substitution - Missense(1)	ovary(1)	14											110	118	115					14																	65252635		2203	4300	6503	64322388	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3596C>G	14.37:g.65252635G>C	ENSP00000374371:p.Ser1199Cys		64322388	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973573	0.74246	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	4.94	4.94	0.65067	.	0.124864	0.56097	D	0.000038	T	0.66799	0.2826	M	0.65975	2.015	0.44702	D	0.99769	D;D	0.69078	0.997;0.997	D;P	0.63113	0.911;0.881	T	0.70249	-0.4924	10	0.87932	D	0	.	12.4146	0.55486	0.0:0.0:0.8316:0.1684	.	1199;1203	P11277;Q59FP5	SPTB1_HUMAN;.	C	1203;1199;1199;1199;1199;1199	ENSP00000374372:S1199C;ENSP00000451752:S1199C;ENSP00000374371:S1199C;ENSP00000443882:S1199C;ENSP00000374370:S1199C	ENSP00000374370:S1199C	S	-	2	0	SPTB	64322388	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.798000	0.85924	2.451000	0.82905	0.542000	0.68232	TCC		0.532	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			C	65252635	G	C	65252635	3	2	67	1	0	0	0	0	1	0	0	0	15120	1174	41	3	3539	3	SPTB	14	65252635	Missense_Mutation	SNP	G	TCGA-10-0937-01A-02W-0419-10	9742340	65252635	42096905	28	3397											
BRF1	2972	hgsc.bcm.edu	37	14	105684028	105684028	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr14:105684028A>G	ENST00000546474.1	-	15	16584	c.1625T>C	c.(1624-1626)gTg>gCg	p.V542A	BRF1_ENST00000379937.2_Missense_Mutation_p.V515A|BRF1_ENST00000392557.4_Missense_Mutation_p.V338A|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000446501.2_Missense_Mutation_p.V304A|BRF1_ENST00000547530.1_Missense_Mutation_p.V68A|BRF1_ENST00000440513.3_Missense_Mutation_p.V449A|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.V427A|BRF1_ENST00000549044.1_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	542			V -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)	p.V542A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCCCGGAGCACGCTATAATT	0.622																																																1	Substitution - Missense(1)	ovary(1)	14											49	46	47					14																	105684028		2202	4300	6502	104755073	SO:0001583	missense	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1625T>C	14.37:g.105684028A>G	ENSP00000448323:p.Val542Ala		104755073	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.043572	0.93685	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000547530;ENST00000446501;ENST00000327359;ENST00000440513;ENST00000547562	.	.	.	5.35	5.35	0.76521	Brf1-like TBP-binding (1);	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.38692	1.165	0.80722	D	1	P;D;P;D	0.89917	0.845;1.0;0.911;0.972	P;D;P;P	0.91635	0.699;0.999;0.55;0.836	T	0.62558	-0.6829	9	0.29301	T	0.29	.	13.2869	0.60247	1.0:0.0:0.0:0.0	.	449;101;515;542	F5H5Z7;Q6ZV39;Q92994-5;Q92994	.;.;.;TF3B_HUMAN	A	338;515;542;68;304;427;449;262	.	ENSP00000329029:V427A	V	-	2	0	BRF1	104755073	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	8.764000	0.91719	2.030000	0.59900	0.459000	0.35465	GTG		0.622	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		G	105684028	A	G	105684028	3	3	67	1	0	0	0	0	1	0	0	0	1510	159	6	4	424	4	BRF1	14	105684028	Missense_Mutation	SNP	A	TCGA-10-0937-01A-02W-0419-10	40431393	105684028	1665512	29	3398											
PACS2	23241	hgsc.bcm.edu	37	14	105857547	105857547	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr14:105857547G>A	ENST00000325438.8	+	20	2539	c.2035G>A	c.(2035-2037)Gtg>Atg	p.V679M	PACS2_ENST00000551801.1_5'Flank|PACS2_ENST00000458164.2_Missense_Mutation_p.V694M|PACS2_ENST00000547217.1_Missense_Mutation_p.V649M|PACS2_ENST00000447393.1_Missense_Mutation_p.V683M|PACS2_ENST00000551743.1_Missense_Mutation_p.V193M|PACS2_ENST00000430725.2_Missense_Mutation_p.V604M			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	679					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.V679M(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TTTCTAGGTTGTGAAGGTTGG	0.632																																																1	Substitution - Missense(1)	ovary(1)	14											158	127	137					14																	105857547		2202	4300	6502	104928592	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2035G>A	14.37:g.105857547G>A	ENSP00000321834:p.Val679Met		104928592	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468638	0.84533	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000002	T	0.73590	0.3606	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.998;0.971;0.999;0.983	D;D;D;P	0.76575	0.981;0.919;0.988;0.877	T	0.77867	-0.2428	10	0.87932	D	0	-29.3904	15.4427	0.75200	0.0:0.0:1.0:0.0	.	683;694;679;680	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	M	604;679;694;683;649;193	ENSP00000393524:V604M;ENSP00000321834:V679M;ENSP00000399732:V694M;ENSP00000393559:V683M;ENSP00000449525:V649M;ENSP00000449254:V193M	ENSP00000321834:V679M	V	+	1	0	PACS2	104928592	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.242000	0.78210	1.967000	0.57214	0.561000	0.74099	GTG		0.632	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		A	105857547	G	A	105857547	3	1	67	1	0	0	0	0	1	0	0	0	11373	1377	48	2	2125	2	PACS2	14	105857547	Missense_Mutation	SNP	G	TCGA-10-0937-01A-02W-0419-10	173519	105857547	1491993	30	3399											
EXD1	161829	hgsc.bcm.edu	37	15	41476620	41476620	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr15:41476620T>G	ENST00000314992.5	-	10	1244	c.1054A>C	c.(1054-1056)Aaa>Caa	p.K352Q	EXD1_ENST00000458580.2_Missense_Mutation_p.K410Q	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	352							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.K352Q(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						AAGAAGCCTTTGACTTTCTCC	0.388																																																1	Substitution - Missense(1)	ovary(1)	15											130	141	137					15																	41476620		2203	4300	6503	39263912	SO:0001583	missense	161829			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1054A>C	15.37:g.41476620T>G	ENSP00000321029:p.Lys352Gln		39263912	A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	T	7.672	0.687139	0.14973	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.46819	0.86;0.87	5.35	-3.9	0.04181	.	0.724866	0.12920	N	0.428227	T	0.24774	0.0601	N	0.19112	0.55	0.09310	N	1	B;B;B	0.17667	0.0;0.0;0.023	B;B;B	0.09377	0.0;0.0;0.004	T	0.25984	-1.0116	10	0.15066	T	0.55	-27.5861	9.2643	0.37632	0.0:0.1421:0.5757:0.2822	.	410;352;150	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	Q	352;410	ENSP00000321029:K352Q;ENSP00000415056:K410Q	ENSP00000321029:K352Q	K	-	1	0	EXD1	39263912	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.362000	0.20284	-0.739000	0.04809	-0.250000	0.11733	AAA		0.388	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		G	41476620	T	G	41476620	3	3	67	1	0	0	0	0	1	0	0	0	5297	1821	63	5	494	5	EXD1	15	41476620	Missense_Mutation	SNP	T	TCGA-10-0937-01A-02W-0419-10		41476620	61054772	31	3400											
MYO5C	55930	hgsc.bcm.edu	37	15	52553279	52553279	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr15:52553279C>G	ENST00000261839.7	-	10	1254	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	MYO5C_ENST00000443683.2_Missense_Mutation_p.E308Q|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	365	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E365Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTGCCACTCTCCAGGCCCAGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	15											61	64	63					15																	52553279		2050	4206	6256	50340571	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1093G>C	15.37:g.52553279C>G	ENSP00000261839:p.Glu365Gln		50340571	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436057	0.25813	.	.	ENSG00000128833	ENST00000261839;ENST00000443683	D;D	0.87491	-2.26;-2.26	5.51	4.59	0.56863	Myosin head, motor domain (2);	0.271415	0.41001	D	0.000972	D	0.84964	0.5589	M	0.62723	1.935	0.36094	D	0.843675	B	0.18610	0.029	B	0.25759	0.063	D	0.85756	0.1346	10	0.66056	D	0.02	.	11.0105	0.47659	0.0:0.8584:0.0:0.1416	.	365	Q9NQX4	MYO5C_HUMAN	Q	365;308	ENSP00000261839:E365Q;ENSP00000410582:E308Q	ENSP00000261839:E365Q	E	-	1	0	MYO5C	50340571	0.968000	0.33430	0.997000	0.53966	0.204000	0.24138	1.490000	0.35573	2.609000	0.88269	0.655000	0.94253	GAG		0.552	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		G	52553279	C	G	52553279	3	3	67	1	0	0	0	0	1	0	0	0	10080	864	30	3	4263	3	MYO5C	15	52553279	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10	11076659	52553279	49978113	32	3401											
GLG1	2734	hgsc.bcm.edu	37	16	74499607	74499607	+	Nonsense_Mutation	SNP	G	G	C			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr16:74499607G>C	ENST00000422840.2	-	19	2633	c.2634C>G	c.(2632-2634)taC>taG	p.Y878*	Y_RNA_ENST00000384794.1_RNA|GLG1_ENST00000447066.2_Nonsense_Mutation_p.Y867*|GLG1_ENST00000205061.5_Nonsense_Mutation_p.Y878*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	878					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.Y878*(2)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCATGAGGGTGTAGTCTAGCT	0.478																																																2	Substitution - Nonsense(2)	ovary(1)|large_intestine(1)	16											215	207	210					16																	74499607		2198	4300	6498	73057108	SO:0001587	stop_gained	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2634C>G	16.37:g.74499607G>C	ENSP00000405984:p.Tyr878*		73057108	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Nonsense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	38	6.994491	0.97990	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.95	-4.71	0.03279	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.4652	15.2551	0.73579	0.4678:0.0:0.5322:0.0	.	.	.	.	X	878;867;878	.	ENSP00000205061:Y878X	Y	-	3	2	GLG1	73057108	0.029000	0.19370	0.939000	0.37840	0.949000	0.60115	-0.881000	0.04179	-0.753000	0.04721	-0.251000	0.11542	TAC		0.478	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		C	74499607	G	C	74499607	4	2	67	1	0	0	0	0	0	1	0	0	6436	1372	48	3	1017	3	GLG1	16	74499607	Nonsense_Mutation	SNP	G	TCGA-10-0937-01A-02W-0419-10		74499607	15855146	33	3402											
TP53	7157	hgsc.bcm.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	17	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	7517819	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		7517819	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	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	67	1	0	0	0	0	1	0	0	0	16381	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-10-0937-01A-02W-0419-10		7577094	73618116	34	3403											
RUNDC3A	10900	hgsc.bcm.edu	37	17	42392134	42392134	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr17:42392134C>T	ENST00000426726.3	+	5	764	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R159W|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R164W|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	164	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)	p.R164W(1)		large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CATCATGCTGCGGGATGAAGC	0.657																																					Pancreas(82;1061 1416 11136 20771 23901)											1	Substitution - Missense(1)	ovary(1)	17											50	51	51					17																	42392134		2057	4203	6260	39747660	SO:0001583	missense	10900			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.490C>T	17.37:g.42392134C>T	ENSP00000410862:p.Arg164Trp		39747660	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.296352	0.60086	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.11821	2.74;2.74	4.21	0.844	0.18943	RUN (3);	0.062767	0.64402	D	0.000009	T	0.28499	0.0705	L	0.57536	1.79	0.49483	D	0.999793	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.65010	0.931;0.928;0.928;0.928	T	0.01405	-1.1363	10	0.66056	D	0.02	-11.4355	13.0165	0.58759	0.7383:0.2616:0.0:0.0	.	164;164;159;164	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	W	164	ENSP00000410862:R164W;ENSP00000225441:R164W	ENSP00000225441:R164W	R	+	1	2	RUNDC3A	39747660	0.982000	0.34865	0.937000	0.37676	0.785000	0.44390	0.783000	0.26802	0.028000	0.15324	0.456000	0.33151	CGG		0.657	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		T	42392134	C	T	42392134	3	4	67	1	0	0	0	0	1	0	0	0	13747	759	27	1	508	1	RUNDC3A	17	42392134	Missense_Mutation	SNP	C	TCGA-10-0937-01A-02W-0419-10	34815040	42392134	38803076	35	3404											
TXNDC2	84203	hgsc.bcm.edu	37	18	9887064	9887064	+	Silent	SNP	G	G	A			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr18:9887064G>A	ENST00000306084.6	+	2	787	c.588G>A	c.(586-588)aaG>aaA	p.K196K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Silent_p.K129K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	196	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K129K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ACCTCCCCAAGTCCTCAGAAG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	18											145	147	146					18																	9887064		2203	4300	6503	9877064	SO:0001819	synonymous_variant	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.588G>A	18.37:g.9887064G>A			9877064	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	CCDS42414.1																																																																																				0.557	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			A	9887064	G	A	9887064	2	1	67	1	0	0	0	0	0	0	0	1	16797	1020	36	2		2	TXNDC2	18	9887064	Silent	SNP	G	TCGA-10-0937-01A-02W-0419-10		9887064	68190184	36	3405											
ILF3	3609	hgsc.bcm.edu	37	19	10789296	10789296	+	Silent	SNP	A	A	G			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr19:10789296A>G	ENST00000590261.1	+	5	567	c.567A>G	c.(565-567)ctA>ctG	p.L189L	ILF3_ENST00000589998.1_Silent_p.L189L|ILF3_ENST00000592763.1_Silent_p.L189L|ILF3_ENST00000318511.3_Silent_p.L189L|ILF3_ENST00000407004.3_Silent_p.L189L|ILF3_ENST00000420083.1_Silent_p.L189L|ILF3_ENST00000588657.1_Silent_p.L189L|ILF3_ENST00000250241.8_Silent_p.L189L|ILF3_ENST00000449870.1_Silent_p.L189L			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	189	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L189L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TAGAAACGCTATCAGTCAACG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	19											95	83	87					19																	10789296		2203	4300	6503	10650296	SO:0001819	synonymous_variant	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.567A>G	19.37:g.10789296A>G			10650296	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																				0.522	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			G	10789296	A	G	10789296	2	3	67	1	0	0	0	0	0	0	0	1	7712	436	16	4		4	ILF3	19	10789296	Silent	SNP	A	TCGA-10-0937-01A-02W-0419-10		10789296	48339687	37	3406											
ZDHHC8	29801	hgsc.bcm.edu	37	22	20126823	20126823	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr22:20126823G>T	ENST00000334554.7	+	2	352	c.211G>T	c.(211-213)Ggt>Tgt	p.G71C	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.G71C|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.G71C	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	71					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.G71C(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CATGGACCCTGGTGTTTTCCC	0.557																																																1	Substitution - Missense(1)	ovary(1)	22											165	141	149					22																	20126823		2203	4300	6503	18506823	SO:0001583	missense	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.211G>T	22.37:g.20126823G>T	ENSP00000334490:p.Gly71Cys		18506823	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525536	0.85600	.	.	ENSG00000099904	ENST00000436518;ENST00000334554;ENST00000320602;ENST00000405930	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	H	0.99444	4.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98047	1.0385	10	0.87932	D	0	.	18.1579	0.89700	0.0:0.0:1.0:0.0	.	71;71	Q9ULC8-3;Q9ULC8	.;ZDHC8_HUMAN	C	60;71;71;71	ENSP00000412807:G60C;ENSP00000334490:G71C;ENSP00000317804:G71C;ENSP00000384716:G71C	ENSP00000317804:G71C	G	+	1	0	ZDHHC8	18506823	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	9.414000	0.97362	2.361000	0.80049	0.462000	0.41574	GGT		0.557	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		T	20126823	G	T	20126823	3	4	67	1	0	0	0	0	1	0	0	0	17621	1348	47	3	217	3	ZDHHC8	22	20126823	Missense_Mutation	SNP	G	TCGA-10-0937-01A-02W-0419-10		20126823	31177743	38	3407											
AIFM3	150209	hgsc.bcm.edu	37	22	21330811	21330811	+	Silent	SNP	G	G	T			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chr22:21330811G>T	ENST00000399167.2	+	11	1254	c.1014G>T	c.(1012-1014)gtG>gtT	p.V338V	AIFM3_ENST00000333607.6_Silent_p.V338V|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Silent_p.V338V|AIFM3_ENST00000405089.1_Silent_p.V344V|AIFM3_ENST00000440238.2_Silent_p.V338V|AIFM3_ENST00000335375.5_Silent_p.V326V	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	338					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.V338V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGTCGTCGTGGGAGCCGGCT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	22											84	55	65					22																	21330811		2203	4300	6503	19660811	SO:0001819	synonymous_variant	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1014G>T	22.37:g.21330811G>T			19660811	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	CCDS13786.1																																																																																				0.622	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		T	21330811	G	T	21330811	2	4	67	1	0	0	0	0	0	0	0	1	428	1335	47	3		3	AIFM3	22	21330811	Silent	SNP	G	TCGA-10-0937-01A-02W-0419-10	1203988	21330811	29973755	39	3408											
MAGED2	10916	hgsc.bcm.edu	37	X	54841100	54841100	+	Silent	SNP	G	G	C			TCGA-10-0937-01A-02W-0419-10	TCGA-10-0937-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8ae832c4-5d46-48a2-b63d-f41855301f34	376a8252-4965-46f5-9a33-540b7af7fdcc	g.chrX:54841100G>C	ENST00000375068.1	+	11	1511	c.1278G>C	c.(1276-1278)ctG>ctC	p.L426L	MAGED2_ENST00000375060.1_Silent_p.L341L|MAGED2_ENST00000375062.4_Silent_p.L341L|MAGED2_ENST00000375053.2_Silent_p.L426L|MAGED2_ENST00000218439.4_Silent_p.L426L|MAGED2_ENST00000396224.1_Silent_p.L426L|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Silent_p.L426L|MAGED2_ENST00000347546.4_Silent_p.L408L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	426	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)		p.L426L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CAAGGTACCTGGACTATGCCA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	X											79	67	71					X																	54841100		2203	4300	6503	54857825	SO:0001819	synonymous_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1278G>C	X.37:g.54841100G>C			54857825	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	CCDS14362.1																																																																																				0.483	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		C	54841100	G	C	54841100	2	2	67	1	0	0	0	0	0	0	0	1	9184	1335	47	3		3	MAGED2	23	54841100	Silent	SNP	G	TCGA-10-0937-01A-02W-0419-10		54841100	100429460	40	3409											
CDA	978	hgsc.bcm.edu	37	1	20931489	20931489	+	Missense_Mutation	SNP	G	G	A	rs373566343		TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr1:20931489G>A	ENST00000375071.3	+	2	405	c.223G>A	c.(223-225)Gtc>Atc	p.V75I	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	75	CMP/dCMP deaminase zinc-binding.				cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.V75I(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CCAGAAGGCCGTCTCAGAAGG	0.502																																					Pancreas(74;49 1356 2772 27818 40529)											1	Substitution - Missense(1)	ovary(1)	1						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	100	88	92		223	-0.6	1	1		92	0,8600		0,0,4300	no	missense	CDA	NM_001785.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	75/147	20931489	1,13005	2203	4300	6503	20804076	SO:0001583	missense	978			BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.223G>A	1.37:g.20931489G>A	ENSP00000364212:p.Val75Ile		20804076		Missense_Mutation	SNP	ENST00000375071.3	37	CCDS210.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277759	0.40294	2.27E-4	0.0	ENSG00000158825	ENST00000375071	T	0.44482	0.92	5.74	-0.637	0.11504	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.235598	0.44097	N	0.000486	T	0.26991	0.0661	L	0.35414	1.06	0.31936	N	0.611602	B	0.20261	0.043	B	0.19391	0.025	T	0.18555	-1.0333	10	0.27785	T	0.31	.	9.1543	0.36983	0.6065:0.0:0.3935:0.0	.	75	P32320	CDD_HUMAN	I	75	ENSP00000364212:V75I	ENSP00000364212:V75I	V	+	1	0	CDA	20804076	0.999000	0.42202	0.988000	0.46212	0.970000	0.65996	1.017000	0.29989	-0.374000	0.07967	-0.263000	0.10527	GTC		0.502	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785		A	20931489	G	A	20931489	3	1	68	1	0	0	0	0	1	0	0	0	3052	1145	40	1	229	1	CDA	1	20931489	Missense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10		20931489	228319132	1	3410											
INPP5B	3633	hgsc.bcm.edu	37	1	38353061	38353061	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr1:38353061C>A	ENST00000373026.1	-	10	1216	c.1216G>T	c.(1216-1218)Gtg>Ttg	p.V406L	INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.V162L|INPP5B_ENST00000458109.2_Missense_Mutation_p.V89L|RNU6-584P_ENST00000410350.1_RNA|INPP5B_ENST00000373024.3_Missense_Mutation_p.V326L|INPP5B_ENST00000373023.2_Missense_Mutation_p.V406L			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	406	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.V406L(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTCTGACACAGCTTTGAAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											143	129	133					1																	38353061		1875	4118	5993	38125648	SO:0001583	missense	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1216G>T	1.37:g.38353061C>A	ENSP00000362117:p.Val406Leu		38125648	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	C	33	5.287130	0.95517	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31	5.89	5.89	0.94794	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.94568	0.7768	10	0.46703	T	0.11	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	406;326	P32019;P32019-2	I5P2_HUMAN;.	L	162;406;406;406;326;89	ENSP00000362118:V162L;ENSP00000362114:V406L;ENSP00000362117:V406L;ENSP00000362115:V326L;ENSP00000397748:V89L	ENSP00000362114:V406L	V	-	1	0	INPP5B	38125648	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	7.487000	0.81328	2.793000	0.96121	0.561000	0.74099	GTG		0.433	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		A	38353061	C	A	38353061	3	1	68	1	0	0	0	0	1	0	0	0	7755	478	17	3	1821	3	INPP5B	1	38353061	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10	17421572	38353061	210897560	2	3411											
CLCA2	9635	hgsc.bcm.edu	37	1	86890084	86890084	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr1:86890084C>A	ENST00000370565.4	+	1	316	c.154C>A	c.(154-156)Cct>Act	p.P52T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	52					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.P52T(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCCTCAGGTACCTGAGAATCA	0.413																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											1	Substitution - Missense(1)	ovary(1)	1											78	70	73					1																	86890084		2203	4300	6503	86662672	SO:0001583	missense	9635				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.154C>A	1.37:g.86890084C>A	ENSP00000359596:p.Pro52Thr		86662672	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967570	0.34754	.	.	ENSG00000137975	ENST00000370565;ENST00000439777	T	0.15718	2.4	5.87	2.61	0.31194	Chloride channel calcium-activated (1);	0.470541	0.21791	N	0.069061	T	0.06371	0.0164	M	0.70275	2.135	0.29583	N	0.849007	B	0.32653	0.379	B	0.28385	0.089	T	0.20438	-1.0275	10	0.62326	D	0.03	-2.3825	3.2469	0.06801	0.0:0.3113:0.2178:0.4708	.	52	Q9UQC9	CLCA2_HUMAN	T	52	ENSP00000359596:P52T	ENSP00000359596:P52T	P	+	1	0	CLCA2	86662672	0.025000	0.19082	0.768000	0.31515	0.766000	0.43426	0.715000	0.25822	0.626000	0.30322	0.650000	0.86243	CCT		0.413	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		A	86890084	C	A	86890084	3	1	68	1	0	0	0	0	1	0	0	0	3458	507	18	3	156	3	CLCA2	1	86890084	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10	48537023	86890084	162360537	3	3412											
RGS16	6004	hgsc.bcm.edu	37	1	182571206	182571206	+	Silent	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr1:182571206G>A	ENST00000367558.5	-	4	430	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	94	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.F94F(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						AGGCCAGCCAGAACTCCAGGT	0.542											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	1											97	104	102					1																	182571206		2203	4300	6503	180837829	SO:0001819	synonymous_variant	6004			U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"Regulators of G-protein signaling"	9997	protein-coding gene	gene with protein product		602514	"regulator of G-protein signalling 16"			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.282C>T	1.37:g.182571206G>A		1977	180837829	B2R4M4|Q5VYN9|Q99701	Silent	SNP	ENST00000367558.5	37	CCDS1348.1																																																																																				0.542	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		A	182571206	G	A	182571206	2	1	68	1	0	0	0	0	0	0	0	1	13301	933	33	2		2	RGS16	1	182571206	Silent	SNP	G	TCGA-10-0938-01A-02W-0419-10	95681122	182571206	66679415	4	3413											
HMCN1	83872	hgsc.bcm.edu	37	1	186043908	186043908	+	Silent	SNP	G	G	A	rs371338513		TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr1:186043908G>A	ENST00000271588.4	+	53	8404	c.8175G>A	c.(8173-8175)gcG>gcA	p.A2725A	HMCN1_ENST00000367492.2_Silent_p.A2725A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2725	Ig-like C2-type 25.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A2725A(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATTGCTGCGAATGGACACA	0.388																																																1	Substitution - coding silent(1)	ovary(1)	1						G		1,4405	2.1+/-5.4	0,1,2202	126	121	123		8175	-10.3	0.1	1		123	0,8600		0,0,4300	no	coding-synonymous	HMCN1	NM_031935.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2725/5636	186043908	1,13005	2203	4300	6503	184310531	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8175G>A	1.37:g.186043908G>A			184310531	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186043908	G	A	186043908	2	1	68	1	0	0	0	0	0	0	0	1	7220	1045	37	1		1	HMCN1	1	186043908	Silent	SNP	G	TCGA-10-0938-01A-02W-0419-10	3472702	186043908	63206713	5	3414											
C1orf27	54953	hgsc.bcm.edu	37	1	186355164	186355164	+	Silent	SNP	T	T	C			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr1:186355164T>C	ENST00000287859.6	+	4	404	c.279T>C	c.(277-279)ttT>ttC	p.F93F	C1orf27_ENST00000432021.3_Silent_p.F93F|C1orf27_ENST00000367470.3_Silent_p.F93F|C1orf27_ENST00000419367.3_Intron	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	93						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.F93F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TTGGAGTATTTATTATTACTA	0.294																																																1	Substitution - coding silent(1)	ovary(1)	1											55	52	53					1																	186355164		1784	4061	5845	184621787	SO:0001819	synonymous_variant	54953			BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.279T>C	1.37:g.186355164T>C			184621787	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Silent	SNP	ENST00000287859.6	37	CCDS53448.1																																																																																				0.294	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		C	186355164	T	C	186355164	2	2	68	1	0	0	0	0	0	0	0	1	2036	1751	61	4		4	C1orf27	1	186355164	Silent	SNP	T	TCGA-10-0938-01A-02W-0419-10	311256	186355164	62895457	6	3415											
ACTR1B	10120	hgsc.bcm.edu	37	2	98275813	98275813	+	Splice_Site	SNP	A	A	G			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr2:98275813A>G	ENST00000289228.5	-	4	532		c.e4+1			NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.?(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CAGCCGCCACACCTCCTCCGA	0.607																																																1	Unknown(1)	ovary(1)	2											136	106	116					2																	98275813		2203	4300	6503	97642245	SO:0001630	splice_region_variant	10120			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.315+1T>C	2.37:g.98275813A>G			97642245	D3DVH2|Q53SK5|Q9BRB7	Splice_Site	SNP	ENST00000289228.5	37	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809104	0.31961	.	.	ENSG00000115073	ENST00000289228	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1602	0.59540	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACTR1B	97642245	1.000000	0.71417	0.941000	0.38009	0.190000	0.23558	8.933000	0.92911	2.010000	0.58986	0.454000	0.30748	.		0.607	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735	Intron	G	98275813	A	G	98275813	5	3	68	1	0	0	0	0	0	0	1	0	210	173	6	4	845	4	ACTR1B	2	98275813	Splice_Site	SNP	A	TCGA-10-0938-01A-02W-0419-10		98275813	144923560	7	3416											
GLI2	2736	hgsc.bcm.edu	37	2	121732623	121732624	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr2:121732623_121732624delGA	ENST00000452319.1	+	9	1366_1367	c.1306_1307delGA	c.(1306-1308)gagfs	p.E436fs	GLI2_ENST00000361492.4_Frame_Shift_Del_p.E436fs|GLI2_ENST00000314490.11_Frame_Shift_Del_p.E108fs|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGTCATCTATGAGACCAACTGC	0.589																																																0			2																																								121449094	SO:0001589	frameshift_variant	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1306_1307delGA	2.37:g.121732625_121732626delGA	ENSP00000390436:p.Glu436fs		121449093		Frame_Shift_Del	DEL	ENST00000452319.1	37	CCDS33283.1																																																																																				0.589	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		-	121732624	GA	-	121732623	7	5	68	1	0	1	0	1	0	0	0	0	6438	1291	45	0	1336	0	GLI2	2	121732623	Frame_Shift_Del	DEL	GA	TCGA-10-0938-01A-02W-0419-10	23456810	121732623	121466750	8	3417	7	2									
GLI2	2736	hgsc.bcm.edu	37	2	121732626	121732626	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr2:121732626A>C	ENST00000452319.1	+	9	1369	c.1309A>C	c.(1309-1311)Acc>Ccc	p.T437P	GLI2_ENST00000361492.4_Missense_Mutation_p.T437P|GLI2_ENST00000314490.11_Missense_Mutation_p.T109P|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CATCTATGAGACCAACTGCCA	0.597																																																0			2											80	71	74					2																	121732626		2203	4300	6503	121449096	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1309A>C	2.37:g.121732626A>C	ENSP00000390436:p.Thr437Pro		121449096		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790610	0.90367	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.92595	-3.07;-3.07;-3.07	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);	0.110420	0.64402	D	0.000009	D	0.96734	0.8934	M	0.92026	3.265	0.80722	D	1	D;D;D;D;P	0.71674	0.997;0.978;0.998;0.997;0.936	D;P;D;D;D	0.77557	0.985;0.672;0.99;0.978;0.923	D	0.97637	1.0146	10	0.87932	D	0	.	15.2333	0.73407	1.0:0.0:0.0:0.0	.	437;420;92;92;109	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	P	437;437;109	ENSP00000390436:T437P;ENSP00000354586:T437P;ENSP00000312694:T109P	ENSP00000312694:T109P	T	+	1	0	GLI2	121449096	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.087000	0.94110	2.189000	0.69895	0.533000	0.62120	ACC		0.597	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		C	121732626	A	C	121732626	3	2	68	1	0	0	0	0	1	0	0	0	6438	275	10	5	1339	5	GLI2	2	121732626	Missense_Mutation	SNP	A	TCGA-10-0938-01A-02W-0419-10	3	121732626	121466747	9	3418	7	2									
CNTNAP5	129684	hgsc.bcm.edu	37	2	125175107	125175107	+	Silent	SNP	C	C	T			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr2:125175107C>T	ENST00000431078.1	+	4	833	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	157	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L157L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTTGTGCCCCTGGAATGGAA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	2											94	98	97					2																	125175107		1977	4166	6143	124891577	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.469C>T	2.37:g.125175107C>T			124891577	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125175107	C	T	125175107	2	4	68	1	0	0	0	0	0	0	0	1	3650	680	24	2		2	CNTNAP5	2	125175107	Silent	SNP	C	TCGA-10-0938-01A-02W-0419-10	3442481	125175107	118024266	10	3419											
PTPRN	5798	hgsc.bcm.edu	37	2	220162006	220162006	+	Silent	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr2:220162006G>A	ENST00000295718.2	-	14	2277	c.2037C>T	c.(2035-2037)tgC>tgT	p.C679C	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Silent_p.C650C|PTPRN_ENST00000423636.2_Silent_p.C589C	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	679					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.C679C(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCGGCTCCTCGCACCAGGACG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	2											50	48	49					2																	220162006		2203	4300	6503	219870250	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2037C>T	2.37:g.220162006G>A			219870250	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	CCDS2440.1																																																																																				0.652	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			A	220162006	G	A	220162006	2	1	68	1	0	0	0	0	0	0	0	1	12810	1079	38	1		1	PTPRN	2	220162006	Silent	SNP	G	TCGA-10-0938-01A-02W-0419-10	94986899	220162006	23037367	11	3420											
TRIM71	131405	hgsc.bcm.edu	37	3	32915464	32915464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr3:32915464delG	ENST00000383763.5	+	2	1070	c.1007delG	c.(1006-1008)cgafs	p.R336fs		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	336					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R336fs*6(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGCAGGGACGACAGGCAATC	0.617																																																1	Deletion - Frameshift(1)	ovary(1)	3											80	86	84					3																	32915464		2112	4227	6339	32890468	SO:0001589	frameshift_variant	131405				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1007delG	3.37:g.32915464delG	ENSP00000373272:p.Arg336fs		32890468		Frame_Shift_Del	DEL	ENST00000383763.5	37	CCDS43060.1																																																																																				0.617	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		-	32915464	G	-	32915464	7	5	68	1	0	1	0	1	0	0	0	0	16544	1058	37	0	1013	0	TRIM71	3	32915464	Frame_Shift_Del	DEL	G	TCGA-10-0938-01A-02W-0419-10		32915464	165106966	12	3421											
ULK4	54986	hgsc.bcm.edu	37	3	41497016	41497016	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr3:41497016G>A	ENST00000301831.4	-	34	3926	c.3464C>T	c.(3463-3465)aCa>aTa	p.T1155I		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1155					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T307I(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATCAGGTCTGTCAGAGGTCT	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											111	113	112					3																	41497016		1916	4133	6049	41472020	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3464C>T	3.37:g.41497016G>A	ENSP00000301831:p.Thr1155Ile		41472020	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477656	0.44044	.	.	ENSG00000168038	ENST00000301831	T	0.65364	-0.15	5.37	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.140345	0.29066	U	0.013252	T	0.56108	0.1963	L	0.46157	1.445	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.54370	-0.8304	10	0.52906	T	0.07	.	14.0745	0.64882	0.0725:0.0:0.9275:0.0	.	1155	Q96C45	ULK4_HUMAN	I	1155	ENSP00000301831:T1155I	ENSP00000301831:T1155I	T	-	2	0	ULK4	41472020	1.000000	0.71417	0.853000	0.33588	0.764000	0.43329	3.498000	0.53302	1.287000	0.44583	0.655000	0.94253	ACA		0.478	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		A	41497016	G	A	41497016	3	1	68	1	0	0	0	0	1	0	0	0	16978	1377	48	2	379	2	ULK4	3	41497016	Missense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10	8581552	41497016	156525414	13	3422											
PRKAR2A	5576	hgsc.bcm.edu	37	3	48789616	48789616	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr3:48789616T>G	ENST00000265563.8	-	10	1323	c.1074A>C	c.(1072-1074)aaA>aaC	p.K358N	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.K358N|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.K336N	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	358					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.K358N(1)	SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		TACCTAAGCATTTGACATCTC	0.418																																																1	Substitution - Missense(1)	ovary(1)	3											83	77	79					3																	48789616		2203	4300	6503	48764620	SO:0001583	missense	5576				CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.1074A>C	3.37:g.48789616T>G	ENSP00000265563:p.Lys358Asn		48764620	Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	CCDS2778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.95|19.95	3.922403|3.922403	0.73213|0.73213	.|.	.|.	ENSG00000114302|ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446|ENST00000457914	D;D;D|.	0.92911|.	-3.13;-3.13;-3.13|.	5.11|5.11	2.68|2.68	0.31781|0.31781	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);|.	0.054080|.	0.64402|.	D|.	0.000001|.	T|T	0.75547|0.75547	0.3864|0.3864	M|M	0.91090|0.91090	3.175|3.175	0.80722|0.80722	D|D	1|1	D;P|.	0.65815|.	0.995;0.956|.	P;P|.	0.60789|.	0.879;0.733|.	T|T	0.73895|0.73895	-0.3838|-0.3838	10|5	0.87932|.	D|.	0|.	0.403|0.403	5.4251|5.4251	0.16421|0.16421	0.0:0.1482:0.1486:0.7031|0.0:0.1482:0.1486:0.7031	.|.	336;358|.	Q9BUB1;P13861|.	.;KAP2_HUMAN|.	N|L	358;358;336|46	ENSP00000265563:K358N;ENSP00000394041:K358N;ENSP00000296446:K336N|.	ENSP00000265563:K358N|.	K|M	-|-	3|1	2|0	PRKAR2A|PRKAR2A	48764620|48764620	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.572000|0.572000	0.23684|0.23684	0.492000|0.492000	0.27815|0.27815	0.533000|0.533000	0.62120|0.62120	AAA|ATG		0.418	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			G	48789616	T	G	48789616	3	3	68	1	0	0	0	0	1	0	0	0	12508	1490	52	5	148	5	PRKAR2A	3	48789616	Missense_Mutation	SNP	T	TCGA-10-0938-01A-02W-0419-10	7292600	48789616	149232814	14	3423											
DPPA2	151871	hgsc.bcm.edu	37	3	109033361	109033361	+	Missense_Mutation	SNP	T	T	C			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr3:109033361T>C	ENST00000478945.1	-	2	275	c.29A>G	c.(28-30)aAg>aGg	p.K10R		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	10					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.K10R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTACCTTCTTGCTGCTATC	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											138	128	131					3																	109033361		2203	4300	6503	110516051	SO:0001583	missense	151871			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.29A>G	3.37:g.109033361T>C	ENSP00000417710:p.Lys10Arg		110516051	Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	T	5.324	0.245154	0.10077	.	.	ENSG00000163530	ENST00000478945	T	0.41758	0.99	3.69	1.32	0.21799	.	1.868930	0.02900	N	0.135273	T	0.28101	0.0693	N	0.22421	0.69	0.09310	N	1	B	0.25105	0.118	B	0.17098	0.017	T	0.12293	-1.0553	10	0.22109	T	0.4	-1.021	5.2171	0.15348	0.0:0.2421:0.0:0.7579	.	10	Q7Z7J5	DPPA2_HUMAN	R	10	ENSP00000417710:K10R	ENSP00000417710:K10R	K	-	2	0	DPPA2	110516051	0.001000	0.12720	0.017000	0.16124	0.044000	0.14063	0.150000	0.16263	0.292000	0.22492	0.459000	0.35465	AAG		0.383	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		C	109033361	T	C	109033361	3	2	68	1	0	0	0	0	1	0	0	0	4734	1609	56	4	895	4	DPPA2	3	109033361	Missense_Mutation	SNP	T	TCGA-10-0938-01A-02W-0419-10	60243745	109033361	88989069	15	3424											
ADCY5	111	hgsc.bcm.edu	37	3	123005609	123005609	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr3:123005609G>T	ENST00000462833.1	-	20	4792	c.3580C>A	c.(3580-3582)Cct>Act	p.P1194T	ADCY5_ENST00000491190.1_Missense_Mutation_p.P852T|RP11-797D24.4_ENST00000608436.1_RNA|ADCY5_ENST00000309879.5_Missense_Mutation_p.P844T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1194	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.P1194S(1)|p.P1194T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCGTACTGAGGCTTTCGTGCC	0.622											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	ovary(1)|lung(1)	3											167	114	132					3																	123005609		2203	4300	6503	124488299	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3580C>A	3.37:g.123005609G>T	ENSP00000419361:p.Pro1194Thr	1523	124488299	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365308	0.95877	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.33438	1.41;1.41;1.41	4.99	4.99	0.66335	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	T	0.73636	0.3612	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.85369	0.1112	10	0.72032	D	0.01	.	18.4657	0.90753	0.0:0.0:1.0:0.0	.	1194;852	O95622;B3KWA8	ADCY5_HUMAN;.	T	1194;852;844	ENSP00000419361:P1194T;ENSP00000418537:P852T;ENSP00000308685:P844T	ENSP00000308685:P844T	P	-	1	0	ADCY5	124488299	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.657000	0.98554	2.595000	0.87683	0.563000	0.77884	CCT		0.622	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		T	123005609	G	T	123005609	3	4	68	1	0	0	0	0	1	0	0	0	297	1203	42	3	213	3	ADCY5	3	123005609	Missense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10	13972248	123005609	75016821	16	3425											
EPHB3	2049	hgsc.bcm.edu	37	3	184290716	184290716	+	Frame_Shift_Del	DEL	T	T	-			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr3:184290716delT	ENST00000330394.2	+	3	1060	c.608delT	c.(607-609)atcfs	p.I203fs	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	203	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.I203fs*144(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGTCGCTCATCTCCGTGCGC	0.632																																																1	Deletion - Frameshift(1)	ovary(1)	3											54	54	54					3																	184290716		2203	4300	6503	185773410	SO:0001589	frameshift_variant	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.608delT	3.37:g.184290716delT	ENSP00000332118:p.Ile203fs		185773410	Q7Z740	Frame_Shift_Del	DEL	ENST00000330394.2	37	CCDS3268.1																																																																																				0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		-	184290716	T	-	184290716	7	5	68	1	0	1	0	1	0	0	0	0	5176	1435	50	0	618	0	EPHB3	3	184290716	Frame_Shift_Del	DEL	T	TCGA-10-0938-01A-02W-0419-10	61285107	184290716	13731714	17	3426											
WHSC1	7468	hgsc.bcm.edu	37	4	1902766	1902766	+	Frame_Shift_Del	DEL	A	A	-			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr4:1902766delA	ENST00000382895.3	+	4	816	c.385delA	c.(385-387)accfs	p.T129fs	WHSC1_ENST00000420906.2_Frame_Shift_Del_p.T129fs|WHSC1_ENST00000514045.1_Frame_Shift_Del_p.T129fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.T129fs|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.T129fs|WHSC1_ENST00000398261.1_Frame_Shift_Del_p.T129fs|WHSC1_ENST00000508803.1_Frame_Shift_Del_p.T129fs|WHSC1_ENST00000503128.1_Frame_Shift_Del_p.T129fs|WHSC1_ENST00000436793.1_Frame_Shift_Del_p.T129fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	129					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T129fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCTGAAAATCACCAAAACATA	0.433			T	IGH@	MM																																		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	1	Deletion - Frameshift(1)	ovary(1)	4											59	60	60					4																	1902766		2203	4300	6503	1872564	SO:0001589	frameshift_variant	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.385delA	4.37:g.1902766delA	ENSP00000372351:p.Thr129fs		1872564	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Del	DEL	ENST00000382895.3	37	CCDS33940.1																																																																																				0.433	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		-	1902766	A	-	1902766	7	5	68	1	0	1	0	1	0	0	0	0	17362	159	6	0	387	0	WHSC1	4	1902766	Frame_Shift_Del	DEL	A	TCGA-10-0938-01A-02W-0419-10		1902766	189251510	18	3427											
POLN	353497	hgsc.bcm.edu	37	4	2209783	2209783	+	Silent	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr4:2209783G>A	ENST00000511885.2	-	5	998	c.645C>T	c.(643-645)ctC>ctT	p.L215L	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.L215L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	215					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.L215L(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTGCCTGTTTGAGCATTTCAA	0.418								DNA polymerases (catalytic subunits)																																								1	Substitution - coding silent(1)	ovary(1)	4											103	100	101					4																	2209783		2203	4300	6503	2179581	SO:0001819	synonymous_variant	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.645C>T	4.37:g.2209783G>A			2179581	A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	CCDS3360.1																																																																																				0.418	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		A	2209783	G	A	2209783	2	1	68	1	0	0	0	0	0	0	0	1	12207	1277	45	2		2	POLN	4	2209783	Silent	SNP	G	TCGA-10-0938-01A-02W-0419-10	307017	2209783	188944493	19	3428											
DHX15	1665	hgsc.bcm.edu	37	4	24543633	24543633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr4:24543633G>A	ENST00000336812.4	-	8	1504	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	450	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R450*(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ACTCTGATTCGAGGATTGTAG	0.423																																																1	Substitution - Nonsense(1)	ovary(1)	4											80	79	79					4																	24543633		2203	4300	6503	24152731	SO:0001587	stop_gained	1665			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1348C>T	4.37:g.24543633G>A	ENSP00000336741:p.Arg450*		24152731	Q9NQT7	Nonsense_Mutation	SNP	ENST00000336812.4	37	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	G	40	8.176183	0.98691	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	6.16	2.3	0.28687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9299	10.1851	0.42993	0.0613:0.0:0.5866:0.3521	.	.	.	.	X	450;439	.	ENSP00000336741:R450X	R	-	1	2	DHX15	24152731	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.306000	0.72810	0.402000	0.25451	0.650000	0.86243	CGA		0.423	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		A	24543633	G	A	24543633	4	1	68	1	0	0	0	0	0	1	0	0	4501	1066	37	1	1067	1	DHX15	4	24543633	Nonsense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10	22333850	24543633	166610643	20	3429											
GABRA4	2557	hgsc.bcm.edu	37	4	46973172	46973172	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr4:46973172T>A	ENST00000264318.3	-	7	1784	c.802A>T	c.(802-804)Att>Ttt	p.I268F		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	268					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|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.I268F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					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)	ACTGTCATAATGCACGGAATA	0.373																																					Ovarian(6;283 369 8234 12290 33402)											1	Substitution - Missense(1)	ovary(1)	4											82	79	80					4																	46973172		2203	4300	6503	46667929	SO:0001583	missense	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.802A>T	4.37:g.46973172T>A	ENSP00000264318:p.Ile268Phe		46667929	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.996271	0.93167	.	.	ENSG00000109158	ENST00000264318	D	0.87491	-2.26	5.42	5.42	0.78866	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91590	0.5286	10	0.72032	D	0.01	.	14.7995	0.69903	0.0:0.0:0.0:1.0	.	268	P48169	GBRA4_HUMAN	F	268	ENSP00000264318:I268F	ENSP00000264318:I268F	I	-	1	0	GABRA4	46667929	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.868000	0.87116	2.276000	0.75962	0.528000	0.53228	ATT		0.373	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			A	46973172	T	A	46973172	3	1	68	1	0	0	0	0	1	0	0	0	6163	1464	51	5	874	5	GABRA4	4	46973172	Missense_Mutation	SNP	T	TCGA-10-0938-01A-02W-0419-10	22429539	46973172	144181104	21	3430											
INTU	27152	hgsc.bcm.edu	37	4	128564711	128564711	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr4:128564711A>G	ENST00000335251.6	+	2	285	c.182A>G	c.(181-183)aAa>aGa	p.K61R	INTU_ENST00000296461.5_Missense_Mutation_p.K61R	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	61					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.K61R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGTGTGCAGAAAAATGGAGAG	0.398																																																1	Substitution - Missense(1)	ovary(1)	4											158	173	168					4																	128564711		2203	4300	6503	128784161	SO:0001583	missense	27152			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.182A>G	4.37:g.128564711A>G	ENSP00000334003:p.Lys61Arg		128784161	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.532761	0.45073	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.50813	0.73	5.1	2.62	0.31277	.	0.101136	0.64402	N	0.000003	T	0.35480	0.0933	L	0.39397	1.21	0.48452	D	0.999657	B	0.25048	0.117	B	0.22601	0.04	T	0.09058	-1.0692	10	0.33940	T	0.23	-8.8202	9.5795	0.39479	0.8569:0.0:0.1431:0.0	.	61	Q9ULD6	PDZD6_HUMAN	R	42;61;61	ENSP00000296461:K61R	ENSP00000296461:K61R	K	+	2	0	INTU	128784161	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	5.323000	0.65858	0.397000	0.25310	-0.250000	0.11733	AAA		0.398	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		G	128564711	A	G	128564711	3	3	68	1	0	0	0	0	1	0	0	0	7786	14	1	4	188	4	INTU	4	128564711	Missense_Mutation	SNP	A	TCGA-10-0938-01A-02W-0419-10	81591539	128564711	62589565	22	3431											
DNAH5	1767	hgsc.bcm.edu	37	5	13714612	13714612	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr5:13714612C>T	ENST00000265104.4	-	75	13131	c.13027G>A	c.(13027-13029)Gac>Aac	p.D4343N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4343					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D4343N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGAGGTGTCCTTGGGTTGG	0.607									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											95	85	89					5																	13714612		2203	4300	6503	13767612	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13027G>A	5.37:g.13714612C>T	ENSP00000265104:p.Asp4343Asn		13767612	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455864	0.96223	.	.	ENSG00000039139	ENST00000265104	T	0.08546	3.08	5.22	5.22	0.72569	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.31136	0.0787	M	0.82132	2.575	0.80722	D	1	D	0.63880	0.993	D	0.66497	0.944	T	0.02471	-1.1154	10	0.42905	T	0.14	.	18.7863	0.91955	0.0:1.0:0.0:0.0	.	4343	Q8TE73	DYH5_HUMAN	N	4343	ENSP00000265104:D4343N	ENSP00000265104:D4343N	D	-	1	0	DNAH5	13767612	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.798000	0.85924	2.446000	0.82766	0.655000	0.94253	GAC		0.607	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13714612	C	T	13714612	3	4	68	1	0	0	0	0	1	0	0	0	4604	855	30	2	867	2	DNAH5	5	13714612	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10		13714612	167200648	23	3432											
HEATR7B2	133558	hgsc.bcm.edu	37	5	41061678	41061678	+	Silent	SNP	G	G	T			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr5:41061678G>T	ENST00000399564.4	-	6	1059	c.609C>A	c.(607-609)ccC>ccA	p.P203P		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	203								p.P203P(1)									TCACCTGCATGGGTGAGGCCA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	5											174	168	170					5																	41061678		1926	4129	6055	41097435	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.609C>A	5.37:g.41061678G>T			41097435	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41061678	G	T	41061678	2	4	68	1	0	0	0	0	0	0	0	1	7035	1335	47	3		3	HEATR7B2	5	41061678	Silent	SNP	G	TCGA-10-0938-01A-02W-0419-10	27347066	41061678	139853582	24	3433											
GPR98	84059	hgsc.bcm.edu	37	5	89949495	89949495	+	Silent	SNP	T	T	C			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr5:89949495T>C	ENST00000405460.2	+	20	4200	c.4104T>C	c.(4102-4104)aaT>aaC	p.N1368N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1368					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N1368N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAATACGAATGGATTCATTA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	5											109	99	102					5																	89949495		1903	4133	6036	89985251	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4104T>C	5.37:g.89949495T>C			89985251	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	7.923	0.738899	0.15642	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.38	2.99	0.34606	.	.	.	.	.	T	0.53850	0.1822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44329	-0.9335	4	.	.	.	.	5.3177	0.15864	0.1214:0.2095:0.0:0.6692	.	.	.	.	R	957	.	.	W	+	1	0	GPR98	89985251	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	1.171000	0.31896	0.447000	0.26695	0.528000	0.53228	TGG		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	89949495	T	C	89949495	2	2	68	1	0	0	0	0	0	0	0	1	6721	1461	51	4		4	GPR98	5	89949495	Silent	SNP	T	TCGA-10-0938-01A-02W-0419-10	48887817	89949495	90965765	25	3434											
ITPR3	3710	hgsc.bcm.edu	37	6	33662828	33662828	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr6:33662828A>G	ENST00000374316.5	+	58	8973	c.7913A>G	c.(7912-7914)cAc>cGc	p.H2638R	ITPR3_ENST00000605930.1_Missense_Mutation_p.H2638R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2638					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.H2638R(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTGGTGTCCCACCTCACTGCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	6											95	65	75					6																	33662828		2203	4300	6503	33770806	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7913A>G	6.37:g.33662828A>G	ENSP00000363435:p.His2638Arg		33770806	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.755464	0.49362	.	.	ENSG00000096433	ENST00000374316	T	0.39229	1.09	5.67	5.67	0.87782	.	0.157744	0.56097	D	0.000026	T	0.13756	0.0333	N	0.08118	0	0.40372	D	0.979357	B	0.29936	0.262	B	0.27380	0.079	T	0.07751	-1.0756	10	0.40728	T	0.16	-41.3018	15.9154	0.79512	1.0:0.0:0.0:0.0	.	2638	Q14573	ITPR3_HUMAN	R	2638	ENSP00000363435:H2638R	ENSP00000363435:H2638R	H	+	2	0	ITPR3	33770806	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	4.225000	0.58600	2.178000	0.69098	0.533000	0.62120	CAC		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		G	33662828	A	G	33662828	3	3	68	1	0	0	0	0	1	0	0	0	7922	159	6	4	8139	4	ITPR3	6	33662828	Missense_Mutation	SNP	A	TCGA-10-0938-01A-02W-0419-10		33662828	137452239	26	3435											
DST	667	hgsc.bcm.edu	37	6	56483632	56483632	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr6:56483632G>T	ENST00000370765.6	-	23	5307	c.5200C>A	c.(5200-5202)Cac>Aac	p.H1734N	DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3810					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.H1734N(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCTTTCTGTGGGTCATCTGC	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											143	151	148					6																	56483632		2203	4300	6503	56591591	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5200C>A	6.37:g.56483632G>T	ENSP00000359801:p.His1734Asn		56591591	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	9.133	1.011986	0.19277	.	.	ENSG00000151914	ENST00000370765	T	0.77358	-1.09	5.34	3.57	0.40892	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.19575	N	0.999962	B	0.16396	0.017	B	0.12837	0.008	T	0.08391	-1.0724	7	0.13470	T	0.59	.	11.884	0.52592	0.1418:0.0:0.8582:0.0	.	1734	Q03001-3	.	N	1734	ENSP00000359801:H1734N	ENSP00000359801:H1734N	H	-	1	0	DST	56591591	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.180000	0.58296	0.739000	0.32628	0.650000	0.86243	CAC		0.383	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56483632	G	T	56483632	3	4	68	1	0	0	0	0	1	0	0	0	4783	1348	47	3	15203	3	DST	6	56483632	Missense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10	22820804	56483632	114631435	27	3436											
RPF2	84154	hgsc.bcm.edu	37	6	111320914	111320914	+	Splice_Site	SNP	G	G	T			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr6:111320914G>T	ENST00000441448.2	+	6	409	c.317G>T	c.(316-318)gGt>gTt	p.G106V		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	106	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G106V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TTCCTTCCAGGTCGTATGTAT	0.343																																																1	Substitution - Missense(1)	ovary(1)	6											154	148	150					6																	111320914		2203	4300	6503	111427607	SO:0001630	splice_region_variant	84154			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.317-1G>T	6.37:g.111320914G>T			111427607	Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.000862	0.74818	.	.	ENSG00000197498	ENST00000441448;ENST00000368864;ENST00000425871	T;T;T	0.23754	1.89;1.89;1.89	4.98	4.98	0.66077	Brix domain (3);	0.049369	0.85682	D	0.000000	T	0.39358	0.1075	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05289	-1.0894	9	.	.	.	.	17.1854	0.86865	0.0:0.0:1.0:0.0	.	106;106	A8K800;Q9H7B2	.;RPF2_HUMAN	V	106;67;73	ENSP00000402338:G106V;ENSP00000357857:G67V;ENSP00000414026:G73V	.	G	+	2	0	RPF2	111427607	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.372000	0.79612	2.599000	0.87857	0.655000	0.94253	GGT		0.343	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194	Missense_Mutation	T	111320914	G	T	111320914	5	4	68	1	0	0	0	0	0	0	1	0	13550	1275	44	3	339	3	RPF2	6	111320914	Splice_Site	SNP	G	TCGA-10-0938-01A-02W-0419-10	54837282	111320914	59794153	28	3437											
SUMF2	908	hgsc.bcm.edu	37	7	56132032	56132033	+	IGR	INS	-	-	AGT			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr7:56132032_56132033insAGT	ENST00000275603.4	+	0	2719				SUMF2_ENST00000342190.6_In_Frame_Ins_p.29_29P>QS|SUMF2_ENST00000437307.2_In_Frame_Ins_p.10_10P>QS|SUMF2_ENST00000395435.2_In_Frame_Ins_p.29_29P>QS|SUMF2_ENST00000395436.2_In_Frame_Ins_p.29_29P>QS|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000413756.1_In_Frame_Ins_p.10_10P>QS|SUMF2_ENST00000434526.2_In_Frame_Ins_p.29_29P>QS	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.P10>QS(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACCGCTGCTGCCCCTGCTGTCG	0.723																																																1	Complex - insertion inframe(1)	ovary(1)	7																																								56099527	SO:0001628	intergenic_variant	25870			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842		7.37:g.56132032_56132033insAGT			56099526	A6NCD2|Q3KP28|Q75LP4|Q96S46	In_Frame_Ins	INS	ENST00000275603.4	37	CCDS5523.1																																																																																				0.723	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		AGT	56132033	-	AGT	56132032	6	5	68	0	1	1	1	0	0	0	0	0	15386	739	26	0		0	SUMF2	7	56132032	IGR	INS	-	TCGA-10-0938-01A-02W-0419-10		56132032	103006631	29	3438											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121608023	121608023	+	Missense_Mutation	SNP	A	A	T			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr7:121608023A>T	ENST00000393386.2	+	3	554	c.143A>T	c.(142-144)aAt>aTt	p.N48I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N48I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	48	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N48I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATCAAAAAAATTGGGGAAAG	0.279																																																1	Substitution - Missense(1)	ovary(1)	7											50	53	52					7																	121608023		2203	4296	6499	121395259	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.143A>T	7.37:g.121608023A>T	ENSP00000377047:p.Asn48Ile		121395259	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087790	0.76642	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.67865	-0.29;-0.29	5.53	5.53	0.82687	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.073237	0.56097	D	0.000032	T	0.80308	0.4599	M	0.87682	2.9	0.36418	D	0.864127	D;D	0.71674	0.989;0.998	P;P	0.59056	0.851;0.851	D	0.86917	0.2064	10	0.87932	D	0	.	11.0763	0.48034	0.9277:0.0:0.0722:0.0	.	48;48	C9JFM0;P23471	.;PTPRZ_HUMAN	I	48	ENSP00000377047:N48I;ENSP00000410000:N48I	ENSP00000377047:N48I	N	+	2	0	PTPRZ1	121395259	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.806000	0.75195	2.227000	0.72691	0.528000	0.53228	AAT		0.279	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121608023	A	T	121608023	3	4	68	1	0	0	0	0	1	0	0	0	12817	101	4	5	153	5	PTPRZ1	7	121608023	Missense_Mutation	SNP	A	TCGA-10-0938-01A-02W-0419-10	65475991	121608023	37530640	30	3439											
SND1	27044	hgsc.bcm.edu	37	7	127528015	127528015	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr7:127528015T>A	ENST00000354725.3	+	13	1598	c.1404T>A	c.(1402-1404)gaT>gaA	p.D468E		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	468	TNase-like 3. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.D468E(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACCGGCAGGATGATGACCAGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											107	79	89					7																	127528015		2203	4300	6503	127315251	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1404T>A	7.37:g.127528015T>A	ENSP00000346762:p.Asp468Glu		127315251	Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693944	0.68386	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.30448	1.53;1.53	5.1	2.66	0.31614	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.047219	0.85682	D	0.000000	T	0.36358	0.0964	M	0.74881	2.28	0.58432	D	0.999996	P	0.35507	0.506	B	0.41374	0.355	T	0.12993	-1.0526	10	0.59425	D	0.04	-20.5936	8.2113	0.31486	0.0:0.1677:0.0:0.8323	.	468	Q7KZF4	SND1_HUMAN	E	468;458;17	ENSP00000346762:D468E;ENSP00000419327:D17E	ENSP00000346762:D468E	D	+	3	2	SND1	127315251	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.194000	0.17135	0.346000	0.23899	0.533000	0.62120	GAT		0.473	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		A	127528015	T	A	127528015	3	1	68	1	0	0	0	0	1	0	0	0	14847	1461	51	5	1454	5	SND1	7	127528015	Missense_Mutation	SNP	T	TCGA-10-0938-01A-02W-0419-10	5919992	127528015	31610648	31	3440											
ZFP41	286128	hgsc.bcm.edu	37	8	144332451	144332451	+	Silent	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr8:144332451G>A	ENST00000330701.4	+	2	807	c.438G>A	c.(436-438)ggG>ggA	p.G146G	ZFP41_ENST00000520584.1_Silent_p.G146G|ZFP41_ENST00000522452.1_Silent_p.G146G	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	146					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G146G(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TCAAATGCGGGGAGTGCGGGA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	8											112	112	112					8																	144332451		2203	4300	6503	144403826	SO:0001819	synonymous_variant	286128				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.438G>A	8.37:g.144332451G>A			144403826	D3DWJ5	Silent	SNP	ENST00000330701.4	37	CCDS6397.1																																																																																				0.582	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		A	144332451	G	A	144332451	2	1	68	1	0	0	0	0	0	0	0	1	17649	1219	43	2		2	ZFP41	8	144332451	Silent	SNP	G	TCGA-10-0938-01A-02W-0419-10		144332451	2031571	32	3441											
GDA	9615	hgsc.bcm.edu	37	9	74840652	74840652	+	Silent	SNP	T	T	C			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr9:74840652T>C	ENST00000358399.3	+	8	867	c.774T>C	c.(772-774)taT>taC	p.Y258Y	GDA_ENST00000545168.1_Silent_p.Y184Y|GDA_ENST00000376989.3_Silent_p.Y197Y|GDA_ENST00000238018.4_Silent_p.Y258Y|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Silent_p.Y180Y	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	258					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.Y258Y(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ACCCCAGTTATAAAAACTACA	0.274																																																1	Substitution - coding silent(1)	ovary(1)	9											79	91	87					9																	74840652		2201	4291	6492	74030472	SO:0001819	synonymous_variant	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.774T>C	9.37:g.74840652T>C			74030472	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	ENST00000358399.3	37	CCDS6641.1																																																																																				0.274	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			C	74840652	T	C	74840652	2	2	68	1	0	0	0	0	0	0	0	1	6306	1413	49	4		4	GDA	9	74840652	Silent	SNP	T	TCGA-10-0938-01A-02W-0419-10		74840652	66372779	33	3442											
GLT6D1	360203	hgsc.bcm.edu	37	9	138516111	138516111	+	Silent	SNP	T	T	C	rs200214074	byFrequency	TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr9:138516111T>C	ENST00000371763.1	-	5	916	c.663A>G	c.(661-663)ggA>ggG	p.G221G		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	221					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.G221G(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AATCTCCCTGTCCAAACGGGA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	9											109	108	108					9																	138516111		1917	4128	6045	137655932	SO:0001819	synonymous_variant	360203			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.663A>G	9.37:g.138516111T>C			137655932		Silent	SNP	ENST00000371763.1	37	CCDS43900.1																																																																																				0.478	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		C	138516111	T	C	138516111	2	2	68	1	0	0	0	0	0	0	0	1	6468	1654	58	4		4	GLT6D1	9	138516111	Silent	SNP	T	TCGA-10-0938-01A-02W-0419-10	63675459	138516111	2697320	34	3443											
C10orf71	118461	hgsc.bcm.edu	37	10	50532316	50532316	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr10:50532316C>A	ENST00000374144.3	+	3	2014	c.1726C>A	c.(1726-1728)Cct>Act	p.P576T	C10orf71_ENST00000323868.4_Missense_Mutation_p.P576T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	576								p.P576T(1)		endometrium(1)	1						CCAGAAGGACCCTACAGCTGA	0.552																																																1	Substitution - Missense(1)	ovary(1)	10											44	45	45					10																	50532316		1993	4175	6168	50202322	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1726C>A	10.37:g.50532316C>A	ENSP00000363259:p.Pro576Thr		50202322	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825097	0.50739	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.13901	2.55;3.68	5.48	4.52	0.55395	.	0.224852	0.22812	N	0.055339	T	0.14356	0.0347	L	0.51422	1.61	0.09310	N	1	P	0.47910	0.902	B	0.44133	0.442	T	0.14337	-1.0476	10	0.18710	T	0.47	.	10.9343	0.47237	0.2693:0.7307:0.0:0.0	.	576	Q711Q0-3	.	T	576	ENSP00000318713:P576T;ENSP00000363259:P576T	ENSP00000318713:P576T	P	+	1	0	C10orf71	50202322	0.006000	0.16342	0.104000	0.21259	0.046000	0.14306	1.017000	0.29989	2.587000	0.87381	0.591000	0.81541	CCT		0.552	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50532316	C	A	50532316	3	1	68	1	0	0	0	0	1	0	0	0	1614	623	22	3	1728	3	C10orf71	10	50532316	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10		50532316	85002431	35	3444											
NUP98	4928	hgsc.bcm.edu	37	11	3752738	3752738	+	Missense_Mutation	SNP	C	C	T	rs201892076		TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr11:3752738C>T	ENST00000324932.7	-	14	2033	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	NUP98_ENST00000359171.4_Missense_Mutation_p.R538H|NUP98_ENST00000355260.3_Missense_Mutation_p.R538H|NUP98_ENST00000397007.4_Missense_Mutation_p.R555H|NUP98_ENST00000397004.4_Missense_Mutation_p.R538H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	555					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.R538H(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTGGCAGGGCGGGGTGTCAG	0.458			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	1	Substitution - Missense(1)	ovary(1)	11											168	180	176					11																	3752738		2201	4298	6499	3709314	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1613G>A	11.37:g.3752738C>T	ENSP00000316032:p.Arg538His		3709314	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.316156|5.316156	0.95655|0.95655	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000529379|ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77791|0.77791	0.4183|0.4183	M|M	0.75777|0.75777	2.31|2.31	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.997;0.999;0.999	T|T	0.72676|0.72676	-0.4221|-0.4221	5|9	.|0.14252	.|T	.|0.57	.|.	18.3204|18.3204	0.90236|0.90236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|555;538;538;538	.|P52948-3;P52948-4;P52948-2;P52948-5	.|.;.;.;.	T|H	140|538;538;538;538;555	.|.	.|ENSP00000316032:R538H	A|R	-|-	1|2	0|0	NUP98|NUP98	3709314|3709314	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.959000|0.959000	0.62525|0.62525	7.487000|7.487000	0.81328|0.81328	2.569000|2.569000	0.86673|0.86673	0.467000|0.467000	0.42956|0.42956	GCC|CGC		0.458	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		T	3752738	C	T	3752738	3	4	68	1	0	0	0	0	1	0	0	0	10773	768	27	1	3890	1	NUP98	11	3752738	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10		3752738	131253778	36	3445											
GRIN2B	2904	hgsc.bcm.edu	37	12	13722835	13722835	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr12:13722835C>A	ENST00000609686.1	-	11	2497	c.2288G>T	c.(2287-2289)gGc>gTc	p.G763V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	763					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G763V(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATGGCAATGCCATAGCCAGT	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											80	65	70					12																	13722835		2203	4300	6503	13614102	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2288G>T	12.37:g.13722835C>A	ENSP00000477455:p.Gly763Val		13614102	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819425	0.90873	.	.	ENSG00000150086	ENST00000279593	T	0.60040	0.22	5.55	5.55	0.83447	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.056868	0.64402	D	0.000001	T	0.82135	0.4971	M	0.92268	3.29	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.86319	0.1691	10	0.87932	D	0	.	19.5042	0.95108	0.0:1.0:0.0:0.0	.	763	Q13224	NMDE2_HUMAN	V	763	ENSP00000279593:G763V	ENSP00000279593:G763V	G	-	2	0	GRIN2B	13614102	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.771000	0.85420	2.590000	0.87494	0.655000	0.94253	GGC		0.507	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			A	13722835	C	A	13722835	3	1	68	1	0	0	0	0	1	0	0	0	6780	739	26	3	2178	3	GRIN2B	12	13722835	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10		13722835	120129060	37	3446											
DNAJC14	85406	hgsc.bcm.edu	37	12	56215819	56215819	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr12:56215819G>A	ENST00000357606.3	-	8	2340	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	RP11-762I7.5_ENST00000546837.1_Silent_p.T313T|DNAJC14_ENST00000317287.5_Missense_Mutation_p.P684L|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.P684L			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	684					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P684L(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TTCTCCCTTGGGTACTGTGCT	0.552																																																1	Substitution - Missense(1)	ovary(1)	12											139	129	133					12																	56215819		2203	4300	6503	54502086	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.2051C>T	12.37:g.56215819G>A	ENSP00000350223:p.Pro684Leu		54502086	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.82|17.82	3.482373|3.482373	0.63962|0.63962	.|.	.|.	ENSG00000135392|ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287|ENST00000540330	T;T;T|.	0.37915|.	1.17;1.17;1.17|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.061993|0.061993	0.64402|0.64402	D|D	0.000003|0.000003	T|T	0.53706|0.53706	0.1813|0.1813	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D;D|.	0.53619|.	0.961;0.961|.	P;P|.	0.49637|.	0.617;0.617|.	T|T	0.43180|0.43180	-0.9407|-0.9407	10|7	0.87932|0.20519	D|T	0|0.43	-3.3897|-3.3897	17.5705|17.5705	0.87933|0.87933	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	684;684|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	L|S	684;684;394;684|180	ENSP00000350223:P684L;ENSP00000316240:P684L;ENSP00000317500:P684L|.	ENSP00000316240:P684L|ENSP00000441495:P180S	P|P	-|-	2|1	0|0	DNAJC14|DNAJC14	54502086|54502086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	4.733000|4.733000	0.62036|0.62036	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	CCC|CCA		0.552	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		A	56215819	G	A	56215819	3	1	68	1	0	0	0	0	1	0	0	0	4633	1232	43	2	61	2	DNAJC14	12	56215819	Missense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10	42492984	56215819	77636076	38	3447											
STAC3	246329	hgsc.bcm.edu	37	12	57637954	57637954	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr12:57637954G>A	ENST00000332782.2	-	11	1114	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	STAC3_ENST00000546246.2_Missense_Mutation_p.R119W|STAC3_ENST00000554578.1_Missense_Mutation_p.R266W	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	305	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R305W(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TCTCCAGCCCGGACCCGAATG	0.552											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											72	69	70					12																	57637954		2203	4300	6503	55924221	SO:0001583	missense	246329			AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.913C>T	12.37:g.57637954G>A	ENSP00000329200:p.Arg305Trp	1024	55924221	B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171530	0.94807	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000546246	D;D;T	0.83335	-1.69;-1.71;-0.18	5.39	4.45	0.53987	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91172	0.4969	10	0.72032	D	0.01	-32.0365	15.0885	0.72174	0.0:0.0:0.8584:0.1416	.	305	Q96MF2	STAC3_HUMAN	W	266;305;119	ENSP00000452068:R266W;ENSP00000329200:R305W;ENSP00000441515:R119W	ENSP00000329200:R305W	R	-	1	2	STAC3	55924221	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.224000	0.65288	2.710000	0.92621	0.655000	0.94253	CGG		0.552	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		A	57637954	G	A	57637954	3	1	68	1	0	0	0	0	1	0	0	0	15243	1115	39	1	189	1	STAC3	12	57637954	Missense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10	1422135	57637954	76213941	39	3448											
SLAIN1	122060	hgsc.bcm.edu	37	13	78335212	78335212	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr13:78335212T>G	ENST00000466548.1	+	7	1624	c.1598T>G	c.(1597-1599)cTg>cGg	p.L533R	SLAIN1_ENST00000358679.3_Missense_Mutation_p.L270R|SLAIN1_ENST00000267219.8_Missense_Mutation_p.L314R|SLAIN1_ENST00000488699.1_Missense_Mutation_p.L391R|SLAIN1_ENST00000314070.5_Missense_Mutation_p.L156R|SLAIN1_ENST00000418532.1_Missense_Mutation_p.L314R|SLAIN1_ENST00000351546.3_Missense_Mutation_p.L270R	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	533								p.L314R(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		GGGAGTAACCTGCCTCGAAGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	13											73	66	69					13																	78335212		2203	4300	6503	77233213	SO:0001583	missense	122060			AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"chromosome 13 open reading frame 32"	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1598T>G	13.37:g.78335212T>G	ENSP00000419730:p.Leu533Arg		77233213	A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37		.	.	.	.	.	.	.	.	.	.	T	21.0	4.086564	0.76642	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000314070;ENST00000358679	.	.	.	5.9	5.9	0.94986	.	0.498330	0.21991	N	0.066150	T	0.68997	0.3062	L	0.48642	1.525	0.35714	D	0.816618	P;D;P;D	0.64830	0.826;0.986;0.911;0.994	B;P;P;P	0.62298	0.341;0.858;0.461;0.9	T	0.76868	-0.2800	9	0.72032	D	0.01	-15.7098	16.3317	0.83023	0.0:0.0:0.0:1.0	.	269;391;156;533	B7Z326;B7Z209;Q8ND10;Q8ND83	.;.;.;SLAI1_HUMAN	R	533;533;314;391;314;270;156;270	.	ENSP00000267219:L314R	L	+	2	0	SLAIN1	77233213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.801000	0.55545	2.264000	0.75181	0.533000	0.62120	CTG		0.473	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		G	78335212	T	G	78335212	3	3	68	1	0	0	0	0	1	0	0	0	14368	1580	55	5	959	5	SLAIN1	13	78335212	Missense_Mutation	SNP	T	TCGA-10-0938-01A-02W-0419-10		78335212	36834666	40	3449											
RIPK3	11035	hgsc.bcm.edu	37	14	24806668	24806668	+	Splice_Site	SNP	T	T	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr14:24806668T>A	ENST00000216274.5	-	8	1119		c.e8-2		ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000418030.2_5'Flank|ADCY4_ENST00000396747.3_5'Flank|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000310677.4_5'Flank|RIPK3_ENST00000554338.1_5'Flank|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3						activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)	p.?(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ATCCTTTACCTGCAGGGATGG	0.507																																					Pancreas(58;918 1191 4668 13304 15331)											1	Unknown(1)	ovary(1)	14											136	144	141					14																	24806668		2202	4300	6502	23876508	SO:0001630	splice_region_variant	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.901-2A>T	14.37:g.24806668T>A			23876508	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Splice_Site	SNP	ENST00000216274.5	37	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.272394	0.59649	.	.	ENSG00000129465	ENST00000216274	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5184	0.44903	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RIPK3	23876508	1.000000	0.71417	0.993000	0.49108	0.527000	0.34593	3.045000	0.49838	2.259000	0.74868	0.533000	0.62120	.		0.507	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871	Intron	A	24806668	T	A	24806668	5	1	68	1	0	0	0	0	0	0	1	0	13385	1594	55	5	669	5	RIPK3	14	24806668	Splice_Site	SNP	T	TCGA-10-0938-01A-02W-0419-10		24806668	82542872	41	3450											
LINGO1	84894	hgsc.bcm.edu	37	15	77907845	77907845	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr15:77907845G>A	ENST00000355300.6	-	2	578	c.404C>T	c.(403-405)cCg>cTg	p.P135L	LINGO1_ENST00000561030.1_Missense_Mutation_p.P129L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	135					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P129L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GACGCCTAGCGGGATGAGCTT	0.572																																																1	Substitution - Missense(1)	ovary(1)	15											71	76	74					15																	77907845		2105	4223	6328	75694900	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.404C>T	15.37:g.77907845G>A	ENSP00000347451:p.Pro135Leu		75694900	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877696	0.72294	.	.	ENSG00000169783	ENST00000355300	T	0.59906	0.23	5.63	5.63	0.86233	.	0.062472	0.64402	D	0.000002	T	0.70107	0.3186	M	0.62209	1.925	0.80722	D	1	D	0.59357	0.985	P	0.54706	0.759	T	0.72478	-0.4281	10	0.72032	D	0.01	.	19.6703	0.95910	0.0:0.0:1.0:0.0	.	135	Q96FE5	LIGO1_HUMAN	L	135	ENSP00000347451:P135L	ENSP00000347451:P135L	P	-	2	0	LINGO1	75694900	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.071000	0.76770	2.659000	0.90383	0.561000	0.74099	CCG		0.572	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		A	77907845	G	A	77907845	3	1	68	1	0	0	0	0	1	0	0	0	8814	1116	39	1	1462	1	LINGO1	15	77907845	Missense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10		77907845	24623547	42	3451											
SRL	6345	hgsc.bcm.edu	37	16	4242768	4242768	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr16:4242768C>T	ENST00000399609.3	-	6	820	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	SRL_ENST00000537996.1_Missense_Mutation_p.G228R	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	729	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G270R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AAGAGGGCCCCGTAAACCCGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	16											80	84	83					16																	4242768		1887	4108	5995	4182769	SO:0001583	missense	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.808G>A	16.37:g.4242768C>T	ENSP00000382518:p.Gly270Arg		4182769		Missense_Mutation	SNP	ENST00000399609.3	37	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369785	0.82573	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.95238	-3.65;-3.65	4.9	4.9	0.64082	.	0.065237	0.64402	U	0.000011	D	0.97359	0.9136	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98029	1.0375	10	0.87932	D	0	-19.658	17.8967	0.88891	0.0:1.0:0.0:0.0	.	270	Q86TD4-2	.	R	270;728;228	ENSP00000382518:G270R;ENSP00000440350:G228R	ENSP00000333285:G728R	G	-	1	0	SRL	4182769	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.651000	0.83577	2.538000	0.85594	0.655000	0.94253	GGG		0.557	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		T	4242768	C	T	4242768	3	4	68	1	0	0	0	0	1	0	0	0	15152	652	23	1	617	1	SRL	16	4242768	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10		4242768	86111985	43	3452											
EEF2K	29904	hgsc.bcm.edu	37	16	22278032	22278032	+	Nonsense_Mutation	SNP	C	C	G			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr16:22278032C>G	ENST00000263026.5	+	15	2073	c.1599C>G	c.(1597-1599)taC>taG	p.Y533*		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	533					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGGTGCGCTACCACGAGGGTG	0.682																																					NSCLC(195;1411 2157 20319 27471 51856)											0			16											46	43	44					16																	22278032		2197	4300	6497	22185533	SO:0001587	stop_gained	29904			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1599C>G	16.37:g.22278032C>G	ENSP00000263026:p.Tyr533*		22185533	Q8N588	Nonsense_Mutation	SNP	ENST00000263026.5	37	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	43	9.998432	0.99314	.	.	ENSG00000103319	ENST00000263026	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7621	11.7336	0.51752	0.0:0.8649:0.0:0.1351	.	.	.	.	X	533	.	ENSP00000263026:Y533X	Y	+	3	2	EEF2K	22185533	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.508000	0.45450	2.861000	0.98227	0.655000	0.94253	TAC		0.682	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		G	22278032	C	G	22278032	4	3	68	1	0	0	0	0	0	1	0	0	4930	518	18	3	1653	3	EEF2K	16	22278032	Nonsense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10	18035264	22278032	68076721	44	3453											
TP53	7157	hgsc.bcm.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	A	rs11575997		TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr17:7576852C>A	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site	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						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.?(24)|p.0?(8)|p.I332fs*49(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)	AGACTTAGTACCTGAAGGGTG	0.458		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"	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	17	GRCh37	CD002536	TP53	D	rs11575997						115	108	111					17																	7576852		2203	4300	6503	7517577	SO:0001630	splice_region_variant	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.993+1G>T	17.37:g.7576852C>A			7517577	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301218	0.40694	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	rs11575997	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7576852	C	A	7576852	5	1	68	1	0	0	0	0	0	0	1	0	16381	521	18	3	288	3	TP53	17	7576852	Splice_Site	SNP	C	TCGA-10-0938-01A-02W-0419-10		7576852	73618358	45	3454											
RNF157	114804	hgsc.bcm.edu	37	17	74152377	74152377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr17:74152377delT	ENST00000269391.6	-	14	1571	c.1439delA	c.(1438-1440)gagfs	p.E480fs	RNF157_ENST00000319945.6_Frame_Shift_Del_p.E480fs|RNF157-AS1_ENST00000586661.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	480	Ser-rich.						zinc ion binding (GO:0008270)	p.E1083fs*114(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGTGAGATTCTCACTTTCTGG	0.562																																					GBM(186;507 2120 27388 27773 52994)											1	Deletion - Frameshift(1)	ovary(1)	17											109	95	100					17																	74152377		2203	4300	6503	71663972	SO:0001589	frameshift_variant	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1439delA	17.37:g.74152377delT	ENSP00000269391:p.Glu480fs		71663972	Q8NB72|Q96N56	Frame_Shift_Del	DEL	ENST00000269391.6	37	CCDS32740.1																																																																																				0.562	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		-	74152377	T	-	74152377	7	5	68	1	0	1	0	1	0	0	0	0	13457	1551	54	0	624	0	RNF157	17	74152377	Frame_Shift_Del	DEL	T	TCGA-10-0938-01A-02W-0419-10	66575525	74152377	7042833	46	3455											
MAPRE2	10982	hgsc.bcm.edu	37	18	32650251	32650251	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr18:32650251C>A	ENST00000300249.5	+	2	395	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	MAPRE2_ENST00000538170.2_Intron|MAPRE2_ENST00000589699.1_Missense_Mutation_p.S29Y|MAPRE2_ENST00000413393.1_Missense_Mutation_p.S29Y|MAPRE2_ENST00000588910.1_Missense_Mutation_p.S72Y|MAPRE2_ENST00000436190.2_Missense_Mutation_p.S60Y	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	72	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)		p.S72Y(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GACATAGTATCTTTAAACTAC	0.358																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	18											126	116	119					18																	32650251		2203	4300	6503	30904249	SO:0001583	missense	10982			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"APC-binding protein EB1"	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.215C>A	18.37:g.32650251C>A	ENSP00000300249:p.Ser72Tyr		30904249	B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673869	0.67928	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249	T;T;T	0.44482	0.92;0.92;0.92	5.48	5.48	0.80851	Calponin homology domain (4);	0.173838	0.52532	D	0.000070	T	0.48607	0.1509	L	0.57536	1.79	0.32445	N	0.546182	B;P;B	0.37688	0.445;0.605;0.231	P;P;B	0.44422	0.449;0.449;0.242	T	0.63589	-0.6603	10	0.72032	D	0.01	-9.7368	14.2038	0.65721	0.1495:0.8505:0.0:0.0	.	60;72;72	E9PHR3;Q15555;Q15555-2	.;MARE2_HUMAN;.	Y	29;60;72	ENSP00000396074:S29Y;ENSP00000407723:S60Y;ENSP00000300249:S72Y	ENSP00000300249:S72Y	S	+	2	0	MAPRE2	30904249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.277000	0.58939	2.548000	0.85928	0.655000	0.94253	TCT		0.358	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		A	32650251	C	A	32650251	3	1	68	1	0	0	0	0	1	0	0	0	9295	913	32	3	315	3	MAPRE2	18	32650251	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10		32650251	45426997	47	3456											
RTTN	25914	hgsc.bcm.edu	37	18	67795701	67795701	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr18:67795701C>A	ENST00000255674.6	-	24	3322	c.3036G>T	c.(3034-3036)ttG>ttT	p.L1012F	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.L1012F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1012					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L1012F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCTTCAAGGCCAAACAATCAG	0.408																																																1	Substitution - Missense(1)	ovary(1)	18											87	84	85					18																	67795701		2054	4219	6273	65946681	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3036G>T	18.37:g.67795701C>A	ENSP00000255674:p.Leu1012Phe		65946681	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278763	0.80692	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.25749	1.78;1.78	5.81	5.81	0.92471	.	0.073718	0.56097	D	0.000028	T	0.47563	0.1452	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.44483	-0.9325	10	0.72032	D	0.01	.	13.3054	0.60349	0.0:0.9281:0.0:0.0719	.	1012	Q86VV8	RTTN_HUMAN	F	1012	ENSP00000255674:L1012F;ENSP00000399520:L1012F	ENSP00000255674:L1012F	L	-	3	2	RTTN	65946681	0.992000	0.36948	0.999000	0.59377	0.992000	0.81027	3.576000	0.53878	2.741000	0.93983	0.650000	0.86243	TTG		0.408	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		A	67795701	C	A	67795701	3	1	68	1	0	0	0	0	1	0	0	0	13740	593	21	3	3748	3	RTTN	18	67795701	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10	35145450	67795701	10281547	48	3457											
PGLYRP2	114770	hgsc.bcm.edu	37	19	15582817	15582817	+	Silent	SNP	C	C	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr19:15582817C>A	ENST00000340880.4	-	3	1707	c.1227G>T	c.(1225-1227)gtG>gtT	p.V409V	PGLYRP2_ENST00000292609.4_Silent_p.V409V	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	409					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.V409V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AGGTGTGATGCACGTACAAGA	0.677																																																1	Substitution - coding silent(1)	ovary(1)	19											59	50	53					19																	15582817		2203	4300	6503	15443817	SO:0001819	synonymous_variant	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1227G>T	19.37:g.15582817C>A			15443817	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	CCDS12330.2																																																																																				0.677	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		A	15582817	C	A	15582817	2	1	68	1	0	0	0	0	0	0	0	1	11794	697	25	3		3	PGLYRP2	19	15582817	Silent	SNP	C	TCGA-10-0938-01A-02W-0419-10		15582817	43546166	49	3458											
RTN2	6253	hgsc.bcm.edu	37	19	45992121	45992121	+	Silent	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr19:45992121G>A	ENST00000245923.4	-	7	1600	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	RTN2_ENST00000430715.2_Silent_p.L115L|RTN2_ENST00000590526.1_Silent_p.L181L|PPM1N_ENST00000401705.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.L382L	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	455	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.L455L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGGAATCCACGAGGTCTTCTA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	19											22	22	22					19																	45992121		2203	4298	6501	50683961	SO:0001819	synonymous_variant	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1365C>T	19.37:g.45992121G>A			50683961	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	CCDS12665.1																																																																																				0.627	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		A	45992121	G	A	45992121	2	1	68	1	0	0	0	0	0	0	0	1	13729	1045	37	1		1	RTN2	19	45992121	Silent	SNP	G	TCGA-10-0938-01A-02W-0419-10	30409304	45992121	13136862	50	3459											
GYS1	2997	hgsc.bcm.edu	37	19	49485525	49485525	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr19:49485525T>G	ENST00000323798.3	-	7	1245	c.1049A>C	c.(1048-1050)aAc>aCc	p.N350T	GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.T231P|GYS1_ENST00000263276.6_Missense_Mutation_p.N286T|GYS1_ENST00000541188.1_Missense_Mutation_p.N270T	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	350					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)	p.N350T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GAGCAGATAGTTGAGCCGAGC	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											96	90	92					19																	49485525		2203	4300	6503	54177337	SO:0001583	missense	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1049A>C	19.37:g.49485525T>G	ENSP00000317904:p.Asn350Thr		54177337	Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	CCDS12747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.67|14.67	2.605231|2.605231	0.46423|0.46423	.|.	.|.	ENSG00000104812|ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188|ENST00000540532	T;T;T|T	0.71103|0.25579	-0.54;-0.54;-0.54|1.79	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53318|0.53318	0.1789|0.1789	M|M	0.89904|0.89904	3.07|3.07	0.33343|0.33343	D|D	0.57005|0.57005	D;D;D|.	0.76494|.	0.999;0.971;0.999|.	D;P;D|.	0.91635|.	0.999;0.689;0.999|.	T|T	0.72093|0.72093	-0.4394|-0.4394	10|7	0.62326|0.59425	D|D	0.03|0.04	-41.101|-41.101	13.3635|13.3635	0.60669|0.60669	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	270;286;350|.	B7Z806;Q9BTT9;P13807|.	.;.;GYS1_HUMAN|.	T|P	350;286;270|231	ENSP00000317904:N350T;ENSP00000263276:N286T;ENSP00000437922:N270T|ENSP00000445197:T231P	ENSP00000263276:N286T|ENSP00000445197:T231P	N|T	-|-	2|1	0|0	GYS1|GYS1	54177337|54177337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.265000|7.265000	0.78442|0.78442	2.113000|2.113000	0.64589|0.64589	0.528000|0.528000	0.53228|0.53228	AAC|ACT		0.537	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		G	49485525	T	G	49485525	3	3	68	1	0	0	0	0	1	0	0	0	6912	1725	60	5	1204	5	GYS1	19	49485525	Missense_Mutation	SNP	T	TCGA-10-0938-01A-02W-0419-10	3493404	49485525	9643458	51	3460											
ITPA	3704	hgsc.bcm.edu	37	20	3194676	3194676	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr20:3194676G>T	ENST00000380113.3	+	4	427	c.235G>T	c.(235-237)Gcc>Tcc	p.A79S	ITPA_ENST00000455664.2_Missense_Mutation_p.A62S|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Missense_Mutation_p.A38S	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)									p.A79S(1)		autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						GTGCTTCAATGCCCTTGGAGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	20											160	126	138					20																	3194676		2203	4300	6503	3142676	SO:0001583	missense	3704			AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.235G>T	20.37:g.3194676G>T	ENSP00000369456:p.Ala79Ser		3142676		Missense_Mutation	SNP	ENST00000380113.3	37	CCDS13051.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378102	0.82682	.	.	ENSG00000125877	ENST00000380113;ENST00000455664;ENST00000399838	.	.	.	5.32	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	M	0.91717	3.235	0.58432	D	0.999997	P;P	0.44734	0.743;0.842	D;P	0.64877	0.93;0.846	D	0.84890	0.0836	9	0.66056	D	0.02	.	9.9332	0.41534	0.0942:0.0:0.9058:0.0	.	62;79	B2BCH7;Q9BY32	.;ITPA_HUMAN	S	79;62;38	.	ENSP00000369456:A79S	A	+	1	0	ITPA	3142676	1.000000	0.71417	0.924000	0.36721	0.729000	0.41735	7.546000	0.82137	1.249000	0.43950	0.655000	0.94253	GCC		0.572	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2			T	3194676	G	T	3194676	3	4	68	1	0	0	0	0	1	0	0	0	7915	1319	46	3	249	3	ITPA	20	3194676	Missense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10		3194676	59830844	52	3461											
YTHDF1	54915	hgsc.bcm.edu	37	20	61834199	61834199	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chr20:61834199G>A	ENST00000370339.3	-	4	1434	c.1093C>T	c.(1093-1095)Cac>Tac	p.H365Y	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.H315Y	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	365							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.H183Y(1)|p.H365Y(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AGGACGGGGTGGGATTCGACG	0.552																																																2	Substitution - Missense(2)	ovary(2)	20											71	75	74					20																	61834199		2203	4300	6503	61304644	SO:0001583	missense	54915			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1093C>T	20.37:g.61834199G>A	ENSP00000359364:p.His365Tyr		61304644	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657305	0.67586	.	.	ENSG00000149658	ENST00000370339;ENST00000370333;ENST00000342761	T;T	0.25085	1.82;1.83	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	M	0.75777	2.31	0.80722	D	1	D	0.60575	0.988	P	0.61201	0.885	T	0.56691	-0.7937	10	0.87932	D	0	-27.4511	18.0486	0.89341	0.0:0.0:1.0:0.0	.	365	Q9BYJ9	YTHD1_HUMAN	Y	365;315;181	ENSP00000359364:H365Y;ENSP00000359358:H315Y	ENSP00000339489:H181Y	H	-	1	0	YTHDF1	61304644	1.000000	0.71417	0.994000	0.49952	0.645000	0.38454	9.659000	0.98597	2.339000	0.79563	0.591000	0.81541	CAC		0.552	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		A	61834199	G	A	61834199	3	1	68	1	0	0	0	0	1	0	0	0	17498	1348	47	2	594	2	YTHDF1	20	61834199	Missense_Mutation	SNP	G	TCGA-10-0938-01A-02W-0419-10	58639523	61834199	1191321	53	3462											
XIAP	331	hgsc.bcm.edu	37	X	123040922	123040922	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chrX:123040922T>A	ENST00000371199.3	+	7	1684	c.1385T>A	c.(1384-1386)tTt>tAt	p.F462Y	XIAP_ENST00000434753.3_Missense_Mutation_p.F462Y|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000355640.3_Missense_Mutation_p.F462Y	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	462					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F462Y(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GCTATCGTTTTTGTTCCTTGT	0.383									X-linked Lymphoproliferative syndrome																																							1	Substitution - Missense(1)	ovary(1)	X											84	76	79					X																	123040922		2203	4300	6503	122868603	SO:0001583	missense	331	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1385T>A	X.37:g.123040922T>A	ENSP00000360242:p.Phe462Tyr		122868603	D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	t	21.4	4.136713	0.77662	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.80566	-1.39;-1.39;-1.39	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.077814	0.53938	D	0.000052	D	0.89444	0.6717	M	0.81341	2.54	0.50039	D	0.999841	D	0.89917	1.0	D	0.79784	0.993	D	0.90062	0.4157	9	.	.	.	-9.636	14.3202	0.66482	0.0:0.0:0.0:1.0	.	462	P98170	XIAP_HUMAN	Y	462	ENSP00000395230:F462Y;ENSP00000360242:F462Y;ENSP00000347858:F462Y	.	F	+	2	0	XIAP	122868603	1.000000	0.71417	0.867000	0.34043	0.893000	0.52053	7.526000	0.81920	1.841000	0.53522	0.437000	0.28790	TTT		0.383	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		A	123040922	T	A	123040922	3	1	68	1	0	0	0	0	1	0	0	0	17428	1841	64	5	1407	5	XIAP	23	123040922	Missense_Mutation	SNP	T	TCGA-10-0938-01A-02W-0419-10		123040922	32229638	54	3463											
OPN1LW	5956	hgsc.bcm.edu	37	X	153418460	153418460	+	Missense_Mutation	SNP	C	C	A	rs713		TCGA-10-0938-01A-02W-0419-10	TCGA-10-0938-11A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fae74a3c-4c11-47a6-9ecf-4114a3cabcaf	b241449c-ba54-4223-8c25-a3cd0ef14bbf	g.chrX:153418460C>A	ENST00000369951.4	+	3	517	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	153			L -> M (in dbSNP:rs713).		phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.L153M(1)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGAGGTGGCTGGTGGTGTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	X											237	178	200					X																	153418460		2101	3699	5800	153071654	SO:0001583	missense	5956			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.457C>A	X.37:g.153418460C>A	ENSP00000358967:p.Leu153Met		153071654		Missense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	73	0.044002411091018684	9	0.018367346938775512	6	0.016574585635359115	49	0.08687943262411348	16	0.02127659574468085	C	9.490	1.100410	0.20552	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.46451	0.87;0.87	4.57	-0.904	0.10530	GPCR, rhodopsin-like superfamily (1);	0.628146	0.16437	N	0.214448	T	0.00724	0.0024	N	0.17474	0.49	0.26194	N	0.979544	B	0.22211	0.066	B	0.29267	0.1	T	0.10019	-1.0648	10	0.27082	T	0.32	.	1.9237	0.03313	0.4113:0.316:0.1259:0.1468	.	153	P04000	OPSR_HUMAN	M	153;16	ENSP00000358967:L153M;ENSP00000402493:L16M	ENSP00000358967:L153M	L	+	1	2	OPN1LW	153071654	0.000000	0.05858	0.999000	0.59377	0.887000	0.51463	-2.202000	0.01235	0.012000	0.14892	-0.498000	0.04607	CTG		0.567	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		A	153418460	C	A	153418460	3	1	68	1	0	0	0	0	1	0	0	0	10877	796	28	3	467	3	OPN1LW	23	153418460	Missense_Mutation	SNP	C	TCGA-10-0938-01A-02W-0419-10	30377538	153418460	1852100	55	3464											
ZBTB40	9923	hgsc.bcm.edu	37	1	22838463	22838463	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr1:22838463T>A	ENST00000375647.4	+	11	2504	c.2297T>A	c.(2296-2298)gTg>gAg	p.V766E	ZBTB40_ENST00000404138.1_Missense_Mutation_p.V766E|ZBTB40_ENST00000374651.4_Missense_Mutation_p.V654E	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	766					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V766E(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGCAAACAGGTGCAGTGTAAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											74	73	73					1																	22838463		2203	4300	6503	22711050	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2297T>A	1.37:g.22838463T>A	ENSP00000364798:p.Val766Glu		22711050	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210393	0.58343	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.28895	1.59;1.59;1.59	5.73	3.37	0.38596	Zinc finger, C2H2-like (1);	0.442338	0.19333	N	0.116846	T	0.23649	0.0572	L	0.45137	1.4	0.31533	N	0.66091	P;B	0.35272	0.493;0.361	B;B	0.29942	0.109;0.081	T	0.17018	-1.0383	10	0.56958	D	0.05	-9.4074	9.504	0.39035	0.0:0.1466:0.0:0.8534	.	654;766	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	E	766;766;654	ENSP00000384527:V766E;ENSP00000364798:V766E;ENSP00000363782:V654E	ENSP00000363782:V654E	V	+	2	0	ZBTB40	22711050	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.235000	0.43044	0.413000	0.25759	0.533000	0.62120	GTG		0.537	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		A	22838463	T	A	22838463	3	1	69	1	0	0	0	0	1	0	0	0	17542	1696	59	5	2335	5	ZBTB40	1	22838463	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10		22838463	226412158	1	3465											
ZCCHC11	23318	hgsc.bcm.edu	37	1	52941000	52941000	+	Missense_Mutation	SNP	T	T	C	rs201809575	byFrequency	TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr1:52941000T>C	ENST00000371544.3	-	13	2493	c.2231A>G	c.(2230-2232)aAt>aGt	p.N744S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.N744S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	744					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.N744S(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AATACAACCATTGGTTGCCAT	0.388													T|||	2	0.000399361	0	0.0029	5008	,	,		20826	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1						T	SER/ASN,SER/ASN	0,4406		0,0,2203	167	167	167		2231,2231	-0.4	0	1		167	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZCCHC11	NM_001009881.2,NM_015269.2	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	744/1646,744/1645	52941000	1,13005	2203	4300	6503	52713588	SO:0001583	missense	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2231A>G	1.37:g.52941000T>C	ENSP00000360599:p.Asn744Ser		52713588	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	0.170	-1.072256	0.01918	0.0	1.16E-4	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46819	0.86;0.87;0.89;0.87	5.37	-0.42	0.12336	.	0.523696	0.22766	N	0.055884	T	0.15825	0.0381	N	0.12746	0.255	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.24870	-1.0148	10	0.06099	T	0.92	.	10.498	0.44789	0.0:0.3173:0.0:0.6827	.	503;744	E9PKX1;Q5TAX3	.;TUT4_HUMAN	S	744;744;673;503	ENSP00000257177:N744S;ENSP00000360599:N744S;ENSP00000433486:N673S;ENSP00000435256:N503S	ENSP00000257177:N744S	N	-	2	0	ZCCHC11	52713588	0.150000	0.22732	0.022000	0.16811	0.002000	0.02628	0.256000	0.18351	0.007000	0.14760	0.455000	0.32223	AAT		0.388	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		C	52941000	T	C	52941000	3	2	69	1	0	0	0	0	1	0	0	0	17580	1493	52	4	2778	4	ZCCHC11	1	52941000	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10	30102537	52941000	196309621	2	3466											
PIGM	93183	hgsc.bcm.edu	37	1	160000819	160000819	+	Silent	SNP	C	C	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr1:160000819C>A	ENST00000368090.2	-	1	964	c.711G>T	c.(709-711)acG>acT	p.T237T		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	237					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.T237T(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCAAAAAACGTGAGTCCAG	0.473																																																1	Substitution - coding silent(1)	ovary(1)	1											105	108	107					1																	160000819		2203	4300	6503	158267443	SO:0001819	synonymous_variant	93183			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	18858	protein-coding gene	gene with protein product	"GPI mannosyltransferase 1", "DPM:GlcN-(acyl-)PI mannosyltransferase", "dol-P-Man dependent GPI mannosyltransferase"	610273	"phosphatidylinositol glycan, class M"			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.711G>T	1.37:g.160000819C>A			158267443		Silent	SNP	ENST00000368090.2	37	CCDS1192.1																																																																																				0.473	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		A	160000819	C	A	160000819	2	1	69	1	0	0	0	0	0	0	0	1	11892	523	19	3		3	PIGM	1	160000819	Silent	SNP	C	TCGA-13-0714-01A-01W-0370-10	107059819	160000819	89249802	3	3467											
KCNJ9	3765	hgsc.bcm.edu	37	1	160057394	160057394	+	Missense_Mutation	SNP	C	C	A	rs138491089	byFrequency	TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr1:160057394C>A	ENST00000368088.3	+	3	1211	c.969C>A	c.(967-969)caC>caA	p.H323Q		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	323					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.H323Q(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGCTTTCACGAGACTTTTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											80	73	76					1																	160057394		2203	4300	6503	158324018	SO:0001583	missense	3765			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.969C>A	1.37:g.160057394C>A	ENSP00000357067:p.His323Gln		158324018	Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	c	17.98	3.521492	0.64747	.	.	ENSG00000162728	ENST00000368088	D	0.92299	-3.01	4.21	-3.28	0.05033	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.94212	0.8142	M	0.93462	3.42	0.40894	D	0.984091	D	0.58268	0.982	P	0.59889	0.865	D	0.93955	0.7235	10	0.72032	D	0.01	.	11.4919	0.50385	0.0:0.5433:0.0:0.4567	.	323	Q92806	IRK9_HUMAN	Q	323	ENSP00000357067:H323Q	ENSP00000357067:H323Q	H	+	3	2	KCNJ9	158324018	0.000000	0.05858	0.977000	0.42913	0.963000	0.63663	-0.391000	0.07323	-0.556000	0.06134	-0.273000	0.10243	CAC		0.617	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		A	160057394	C	A	160057394	3	1	69	1	0	0	0	0	1	0	0	0	8057	535	19	3	975	3	KCNJ9	1	160057394	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	56575	160057394	89193227	4	3468											
GPATCH2	55105	hgsc.bcm.edu	37	1	217604630	217604630	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr1:217604630G>A	ENST00000366935.3	-	10	1554	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	482	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.P482S(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCTGACCCAGGCGTCCAGCCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											115	118	117					1																	217604630		2203	4300	6503	215671253	SO:0001583	missense	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1444C>T	1.37:g.217604630G>A	ENSP00000355902:p.Pro482Ser		215671253	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005736	0.93287	.	.	ENSG00000092978	ENST00000366935	T	0.38722	1.12	5.83	5.83	0.93111	D111/G-patch (3);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.41573	1.285	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.58572	-0.7613	10	0.66056	D	0.02	.	20.111	0.97911	0.0:0.0:1.0:0.0	.	482	Q9NW75	GPTC2_HUMAN	S	482	ENSP00000355902:P482S	ENSP00000355902:P482S	P	-	1	0	GPATCH2	215671253	1.000000	0.71417	0.576000	0.28549	0.942000	0.58702	8.805000	0.91925	2.747000	0.94245	0.650000	0.86243	CCT		0.463	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		A	217604630	G	A	217604630	3	1	69	1	0	0	0	0	1	0	0	0	6591	1203	42	2	146	2	GPATCH2	1	217604630	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	57547236	217604630	31645991	5	3469											
ITPKB	3707	hgsc.bcm.edu	37	1	226822487	226822487	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr1:226822487G>C	ENST00000272117.3	-	7	2725	c.2726C>G	c.(2725-2727)aCc>aGc	p.T909S	ITPKB_ENST00000429204.1_Missense_Mutation_p.T909S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	909					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.T435S(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				ATGCTGCAGGGTCTGGCCCTC	0.592																																					Colon(84;110 1851 5306 33547)											1	Substitution - Missense(1)	ovary(1)	1											90	72	78					1																	226822487		2203	4300	6503	224889110	SO:0001583	missense	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2726C>G	1.37:g.226822487G>C	ENSP00000272117:p.Thr909Ser		224889110	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502443	0.44455	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.14144	2.53;2.53	5.05	5.05	0.67936	.	0.185344	0.48767	D	0.000173	T	0.12008	0.0292	L	0.49571	1.57	0.25556	N	0.987032	B	0.26363	0.147	B	0.24394	0.053	T	0.14200	-1.0481	10	0.33141	T	0.24	-30.7112	6.5799	0.22588	0.226:0.0:0.774:0.0	.	909	P27987	IP3KB_HUMAN	S	909	ENSP00000272117:T909S;ENSP00000411152:T909S	ENSP00000272117:T909S	T	-	2	0	ITPKB	224889110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.994000	0.40757	2.359000	0.80004	0.555000	0.69702	ACC		0.592	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		C	226822487	G	C	226822487	3	2	69	1	0	0	0	0	1	0	0	0	7918	1261	44	3	118	3	ITPKB	1	226822487	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	9217857	226822487	22428134	6	3470											
SCCPDH	51097	hgsc.bcm.edu	37	1	246890202	246890202	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr1:246890202A>G	ENST00000366510.3	+	2	575	c.199A>G	c.(199-201)Aca>Gca	p.T67A		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	67						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.T67A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AGGAAGACCAACACTGTCATC	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											134	121	125					1																	246890202		2203	4300	6503	244956825	SO:0001583	missense	51097				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.199A>G	1.37:g.246890202A>G	ENSP00000355467:p.Thr67Ala		244956825	Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	A	9.463	1.093668	0.20471	.	.	ENSG00000143653	ENST00000366510	T	0.40756	1.02	5.95	4.81	0.61882	.	0.220253	0.48767	D	0.000177	T	0.16896	0.0406	N	0.10733	0.035	0.23386	N	0.997786	B	0.06786	0.001	B	0.09377	0.004	T	0.24368	-1.0162	10	0.09084	T	0.74	.	3.0813	0.06262	0.6346:0.1483:0.0751:0.1419	.	67	Q8NBX0	SCPDL_HUMAN	A	67	ENSP00000355467:T67A	ENSP00000355467:T67A	T	+	1	0	SCCPDH	244956825	0.998000	0.40836	0.962000	0.40283	0.889000	0.51656	2.163000	0.42377	1.040000	0.40099	0.533000	0.62120	ACA		0.373	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002		G	246890202	A	G	246890202	3	3	69	1	0	0	0	0	1	0	0	0	13888	43	2	4	205	4	SCCPDH	1	246890202	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10	20067715	246890202	2360419	7	3471											
SEMA4F	10505	hgsc.bcm.edu	37	2	74900821	74900821	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr2:74900821G>C	ENST00000357877.2	+	7	837	c.688G>C	c.(688-690)Gcc>Ccc	p.A230P	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	230	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.A230P(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTTTGTCGCAGCCGTGGCCTT	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											63	62	63					2																	74900821		2203	4300	6503	74754329	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.688G>C	2.37:g.74900821G>C	ENSP00000350547:p.Ala230Pro		74754329	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018287	0.75275	.	.	ENSG00000135622	ENST00000357877	T	0.15603	2.41	4.79	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.082508	0.50627	D	0.000101	T	0.43456	0.1248	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.44862	-0.9300	10	0.87932	D	0	.	13.6891	0.62535	0.0:0.0:1.0:0.0	.	230	O95754	SEM4F_HUMAN	P	230	ENSP00000350547:A230P	ENSP00000350547:A230P	A	+	1	0	SEMA4F	74754329	0.993000	0.37304	0.872000	0.34217	0.967000	0.64934	4.689000	0.61723	2.371000	0.80710	0.462000	0.41574	GCC		0.572	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		C	74900821	G	C	74900821	3	2	69	1	0	0	0	0	1	0	0	0	14038	971	34	3	714	3	SEMA4F	2	74900821	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10		74900821	168298552	8	3472											
CNGA3	1261	hgsc.bcm.edu	37	2	99013218	99013218	+	Missense_Mutation	SNP	G	G	A	rs104893619		TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr2:99013218G>A	ENST00000272602.2	+	7	1624	c.1585G>A	c.(1585-1587)Gtg>Atg	p.V529M	CNGA3_ENST00000436404.2_Missense_Mutation_p.V511M|CNGA3_ENST00000409937.1_Missense_Mutation_p.V533M|CNGA3_ENST00000393504.1_Missense_Mutation_p.V529M			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	529			V -> M (in ACHM2; also found in patients with cone-rod dystrophy). {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:15712225, ECO:0000269|PubMed:24903488, ECO:0000269|PubMed:9662398}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.V529M(1)|p.V529L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAAGCTGGCCGTGGTGGCTGA	0.552																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	2	GRCh37	CM980379	CNGA3	M	rs104893619	G	MET/VAL,MET/VAL	0,4406		0,0,2203	117	110	112	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1531,1585	5.1	1	2	dbSNP_132	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CNGA3	NM_001079878.1,NM_001298.2	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	511/677,529/695	99013218	1,13005	2203	4300	6503	98379650	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1585G>A	2.37:g.99013218G>A	ENSP00000272602:p.Val529Met		98379650	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673220	0.67928	0.0	1.16E-4	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.06	5.06	0.68205	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	H	0.98276	4.19	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99605	1.0979	9	0.87932	D	0	.	17.3584	0.87343	0.0:0.0:1.0:0.0	.	533;511;529	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	M	529;511;529;533	ENSP00000377140:V529M;ENSP00000410070:V511M;ENSP00000272602:V529M;ENSP00000386761:V533M	ENSP00000272602:V529M	V	+	1	0	CNGA3	98379650	1.000000	0.71417	0.976000	0.42696	0.667000	0.39255	9.263000	0.95617	2.626000	0.88956	0.563000	0.77884	GTG		0.552	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		A	99013218	G	A	99013218	3	1	69	1	0	0	0	0	1	0	0	0	3598	1145	40	1	1611	1	CNGA3	2	99013218	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	24112397	99013218	144186155	9	3473											
NCK2	8440	hgsc.bcm.edu	37	2	106471535	106471535	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr2:106471535A>T	ENST00000233154.4	+	3	458	c.16A>T	c.(16-18)Att>Ttt	p.I6F	AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000451463.2_Missense_Mutation_p.I6F|AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000598281.1_RNA|NCK2_ENST00000522586.1_Missense_Mutation_p.I6F|NCK2_ENST00000393349.2_Missense_Mutation_p.I6F	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	6	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)	p.I6F(1)		endometrium(1)|lung(3)|ovary(1)	5						AGAAGAAGTTATTGTGATAGC	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											83	83	83					2																	106471535		2203	4300	6503	105837967	SO:0001583	missense	8440			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.16A>T	2.37:g.106471535A>T	ENSP00000233154:p.Ile6Phe		105837967	D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280021	0.59758	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.84	5.84	0.93424	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	N	0.03268	-0.37	0.80722	D	1	B;B	0.16396	0.002;0.017	B;B	0.14578	0.002;0.011	T	0.11036	-1.0604	10	0.25106	T	0.35	.	16.2141	0.82191	1.0:0.0:0.0:0.0	.	6;6	E7ERP6;O43639	.;NCK2_HUMAN	F	6	ENSP00000233154:I6F;ENSP00000410428:I6F;ENSP00000377017:I6F;ENSP00000431109:I6F;ENSP00000408040:I6F;ENSP00000377018:I6F	ENSP00000233154:I6F	I	+	1	0	NCK2	105837967	1.000000	0.71417	0.788000	0.31933	0.996000	0.88848	8.922000	0.92789	2.230000	0.72887	0.528000	0.53228	ATT		0.507	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		T	106471535	A	T	106471535	3	4	69	1	0	0	0	0	1	0	0	0	10220	449	16	5	18	5	NCK2	2	106471535	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10	7458317	106471535	136727838	10	3474											
THSD7B	80731	hgsc.bcm.edu	37	2	137852472	137852472	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr2:137852472C>T	ENST00000409968.1	+	4	1158	c.980C>T	c.(979-981)aCt>aTt	p.T327I	THSD7B_ENST00000413152.2_Missense_Mutation_p.T296I|THSD7B_ENST00000272643.3_Missense_Mutation_p.T327I|THSD7B_ENST00000543459.1_Missense_Mutation_p.T186I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	327						integral component of membrane (GO:0016021)		p.T327I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCCCATTGACTGTTCAGTCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											127	133	131					2																	137852472		1888	4101	5989	137568942	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.980C>T	2.37:g.137852472C>T	ENSP00000387145:p.Thr327Ile		137568942		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	18.02	3.530196	0.64860	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.26067	2.28;2.16;1.77;1.76	5.42	5.42	0.78866	.	0.149265	0.64402	D	0.000012	T	0.35038	0.0918	M	0.66939	2.045	0.47949	D	0.99955	P;P	0.45672	0.864;0.864	P;P	0.46885	0.53;0.53	T	0.04664	-1.0935	10	0.36615	T	0.2	.	13.7402	0.62842	0.154:0.846:0.0:0.0	.	327;296	Q9C0I4;C9JKN6	THS7B_HUMAN;.	I	327;327;296;186	ENSP00000387145:T327I;ENSP00000272643:T327I;ENSP00000413841:T296I;ENSP00000443370:T186I	ENSP00000272643:T327I	T	+	2	0	THSD7B	137568942	0.998000	0.40836	1.000000	0.80357	0.910000	0.53928	3.604000	0.54081	2.547000	0.85894	0.655000	0.94253	ACT		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	137852472	C	T	137852472	3	4	69	1	0	0	0	0	1	0	0	0	15880	565	20	2	897	2	THSD7B	2	137852472	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	31380937	137852472	105346901	11	3475											
MYO3B	140469	hgsc.bcm.edu	37	2	171056682	171056682	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr2:171056682C>G	ENST00000408978.4	+	3	352	c.209C>G	c.(208-210)gCa>gGa	p.A70G	MYO3B_ENST00000409044.3_Missense_Mutation_p.A70G|MYO3B_ENST00000334231.6_Missense_Mutation_p.A79G|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.A70G(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAAATTGAGGCAGAATACAAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											108	107	108					2																	171056682		1867	4109	5976	170764928	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.209C>G	2.37:g.171056682C>G	ENSP00000386213:p.Ala70Gly		170764928	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290173	0.80914	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.52	5.52	0.82312	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	0.74619	0.3740	L	0.35414	1.06	0.80722	D	1	D;D;D;D	0.62365	0.991;0.974;0.991;0.988	D;P;P;D	0.65684	0.937;0.908;0.798;0.932	T	0.74688	-0.3581	10	0.51188	T	0.08	.	19.8125	0.96553	0.0:1.0:0.0:0.0	.	70;70;70;70	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	G	70;70;69;79;79	ENSP00000386497:A70G;ENSP00000386213:A70G;ENSP00000446237:A79G;ENSP00000335100:A79G	ENSP00000314213:A69G	A	+	2	0	MYO3B	170764928	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.745000	0.94114	0.655000	0.94253	GCA		0.393	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			G	171056682	C	G	171056682	3	3	69	1	0	0	0	0	1	0	0	0	10077	710	25	3	219	3	MYO3B	2	171056682	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	33204210	171056682	72142691	12	3476											
CPS1	1373	hgsc.bcm.edu	37	2	211523337	211523337	+	Silent	SNP	C	C	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr2:211523337C>A	ENST00000233072.5	+	31	3877	c.3681C>A	c.(3679-3681)acC>acA	p.T1227T	CPS1_ENST00000430249.2_Silent_p.T1233T|CPS1_ENST00000451903.2_Silent_p.T776T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1227	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.T1227T(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGGATGCTACCCGGAAGATTG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	2											116	109	112					2																	211523337		2203	4300	6503	211231582	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3681C>A	2.37:g.211523337C>A			211231582	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																				0.383	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			A	211523337	C	A	211523337	2	1	69	1	0	0	0	0	0	0	0	1	3823	610	22	3		3	CPS1	2	211523337	Silent	SNP	C	TCGA-13-0714-01A-01W-0370-10	40466655	211523337	31676036	13	3477											
PAX3	5077	hgsc.bcm.edu	37	2	223096882	223096882	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr2:223096882C>T	ENST00000350526.4	-	5	843	c.707G>A	c.(706-708)cGt>cAt	p.R236H	PAX3_ENST00000392070.2_Missense_Mutation_p.R236H|PAX3_ENST00000336840.6_Missense_Mutation_p.R236H|PAX3_ENST00000392069.2_Missense_Mutation_p.R236H|PAX3_ENST00000409551.3_Missense_Mutation_p.R235H|PAX3_ENST00000344493.4_Missense_Mutation_p.R236H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	236					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R236H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAAAAGCACGCTCCAGTTC	0.512			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	ovary(1)	2											159	156	157					2																	223096882		2203	4300	6503	222805126	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.707G>A	2.37:g.223096882C>T	ENSP00000343052:p.Arg236His		222805126	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766099	0.90020	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.37	5.37	0.77165	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98311	0.9440	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.932;0.999;0.987;0.969;0.982	D	0.99267	1.0892	10	0.87932	D	0	.	19.1177	0.93348	0.0:1.0:0.0:0.0	.	236;235;236;236;236	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	H	236;236;236;236;236;235	ENSP00000375921:R236H;ENSP00000342092:R236H;ENSP00000343052:R236H;ENSP00000375922:R236H;ENSP00000338767:R236H;ENSP00000386750:R235H	ENSP00000338767:R236H	R	-	2	0	PAX3	222805126	1.000000	0.71417	0.760000	0.31359	0.961000	0.63080	6.089000	0.71384	2.510000	0.84645	0.557000	0.71058	CGT		0.512	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			T	223096882	C	T	223096882	3	4	69	1	0	0	0	0	1	0	0	0	11480	536	19	1	862	1	PAX3	2	223096882	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	11573545	223096882	20102491	14	3478											
ARPP21	10777	hgsc.bcm.edu	37	3	35835264	35835264	+	Silent	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr3:35835264G>A	ENST00000187397.4	+	20	2709	c.2253G>A	c.(2251-2253)caG>caA	p.Q751Q	ARPP21_ENST00000458225.1_Silent_p.Q752Q|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Silent_p.Q732Q|ARPP21_ENST00000444190.1_Silent_p.Q732Q|ARPP21_ENST00000417925.1_Silent_p.Q752Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	751	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.Q751Q(1)|p.Q751H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TACCTAACCAGGCAGGTCAAG	0.537																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	3											121	112	115					3																	35835264		2203	4300	6503	35810268	SO:0001819	synonymous_variant	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2253G>A	3.37:g.35835264G>A			35810268	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	CCDS2661.1																																																																																				0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		A	35835264	G	A	35835264	2	1	69	1	0	0	0	0	0	0	0	1	978	991	35	2		2	ARPP21	3	35835264	Silent	SNP	G	TCGA-13-0714-01A-01W-0370-10		35835264	162187166	15	3479											
DAG1	1605	hgsc.bcm.edu	37	3	49569910	49569910	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr3:49569910G>A	ENST00000539901.1	+	3	2524	c.1966G>A	c.(1966-1968)Gtg>Atg	p.V656M	DAG1_ENST00000545947.1_Missense_Mutation_p.V656M|DAG1_ENST00000308775.2_Missense_Mutation_p.V656M|DAG1_ENST00000538711.1_Missense_Mutation_p.V656M|DAG1_ENST00000515359.2_Missense_Mutation_p.V656M|DAG1_ENST00000541308.1_Missense_Mutation_p.V656M	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	656	Peptidase S72.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.V656M(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGCTCCATCGTGGTGGAATG	0.567																																																1	Substitution - Missense(1)	ovary(1)	3											41	42	42					3																	49569910		2203	4300	6503	49544914	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1966G>A	3.37:g.49569910G>A	ENSP00000439334:p.Val656Met		49544914	A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728613	0.30593	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	6.0	3.21	0.36854	.	0.377786	0.30593	N	0.009298	T	0.52451	0.1735	M	0.74258	2.255	0.30282	N	0.791218	P	0.50369	0.934	P	0.46543	0.52	T	0.57791	-0.7750	9	.	.	.	-6.2647	12.1293	0.53934	0.0:0.2446:0.6283:0.1271	.	656	Q14118	DAG1_HUMAN	M	656	ENSP00000440705:V656M;ENSP00000312435:V656M;ENSP00000442600:V656M;ENSP00000440590:V656M;ENSP00000439334:V656M;ENSP00000438421:V656M	.	V	+	1	0	DAG1	49544914	0.940000	0.31905	0.332000	0.25469	0.832000	0.47134	1.467000	0.35321	0.409000	0.25649	-0.127000	0.14921	GTG		0.567	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			A	49569910	G	A	49569910	3	1	69	1	0	0	0	0	1	0	0	0	4225	1145	40	1	1972	1	DAG1	3	49569910	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	13734646	49569910	148452520	16	3480											
BAP1	8314	hgsc.bcm.edu	37	3	52440373	52440373	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr3:52440373G>A	ENST00000460680.1	-	9	1150	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R227C(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGGTTGAAGCGGATGTCGTGG	0.627			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Missense(2)	ovary(2)	3											89	69	75					3																	52440373		2203	4300	6503	52415413	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.679C>T	3.37:g.52440373G>A	ENSP00000417132:p.Arg227Cys		52415413	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995807	0.74703	.	.	ENSG00000163930	ENST00000460680	T	0.49432	0.78	6.04	6.04	0.98038	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.73217	2.22	0.80722	D	1	D	0.60160	0.987	P	0.49387	0.609	T	0.61608	-0.7028	10	0.72032	D	0.01	-4.619	15.3219	0.74129	0.0:0.0:0.8603:0.1397	.	227	Q92560	BAP1_HUMAN	C	227	ENSP00000417132:R227C	ENSP00000417132:R227C	R	-	1	0	BAP1	52415413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.828000	0.86729	2.876000	0.98609	0.650000	0.86243	CGC		0.627	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52440373	G	A	52440373	3	1	69	1	0	0	0	0	1	0	0	0	1311	1116	39	1	1546	1	BAP1	3	52440373	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	2870463	52440373	145582057	17	3481											
CPN2	1370	hgsc.bcm.edu	37	3	194063286	194063286	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr3:194063286G>A	ENST00000323830.3	-	2	235	c.146C>T	c.(145-147)cCa>cTa	p.P49L	CPN2_ENST00000429275.1_Missense_Mutation_p.P49L	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	49	LRRNT.				protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.P49L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TTTCGTATATGGCGGGATGTC	0.547																																																1	Substitution - Missense(1)	ovary(1)	3											134	126	129					3																	194063286		2203	4300	6503	195544981	SO:0001583	missense	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.146C>T	3.37:g.194063286G>A	ENSP00000319464:p.Pro49Leu		195544981	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.261075	0.01445	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.25414	1.8;1.8	5.19	4.26	0.50523	Leucine-rich repeat-containing N-terminal (1);	0.213797	0.23852	N	0.043928	T	0.18635	0.0447	L	0.45137	1.4	0.09310	N	0.999997	P	0.35077	0.483	B	0.30251	0.113	T	0.13415	-1.0510	10	0.13470	T	0.59	.	12.5612	0.56281	0.0:0.131:0.7487:0.1203	.	49	P22792	CPN2_HUMAN	L	49	ENSP00000319464:P49L;ENSP00000402232:P49L	ENSP00000319464:P49L	P	-	2	0	CPN2	195544981	0.000000	0.05858	0.039000	0.18376	0.012000	0.07955	0.481000	0.22260	2.590000	0.87494	0.561000	0.74099	CCA		0.547	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		A	194063286	G	A	194063286	3	1	69	1	0	0	0	0	1	0	0	0	3810	1348	47	2	1495	2	CPN2	3	194063286	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	141622913	194063286	3959144	18	3482											
AFM	173	hgsc.bcm.edu	37	4	74353498	74353498	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr4:74353498G>T	ENST00000226355.3	+	6	766	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	225	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.G225W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACATGTCTGTGGGGCACTTTT	0.328																																																1	Substitution - Missense(1)	ovary(1)	4											117	115	115					4																	74353498		2201	4298	6499	74572362	SO:0001583	missense	173			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.673G>T	4.37:g.74353498G>T	ENSP00000226355:p.Gly225Trp		74572362	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699496	0.30142	.	.	ENSG00000079557	ENST00000226355	T	0.73152	-0.72	4.27	3.43	0.39272	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.360322	0.30989	N	0.008471	T	0.78394	0.4276	L	0.58101	1.795	0.39735	D	0.971666	D	0.89917	1.0	D	0.83275	0.996	T	0.79140	-0.1926	10	0.87932	D	0	.	7.9298	0.29895	0.1128:0.0:0.8872:0.0	.	225	P43652	AFAM_HUMAN	W	225	ENSP00000226355:G225W	ENSP00000226355:G225W	G	+	1	0	AFM	74572362	1.000000	0.71417	0.998000	0.56505	0.174000	0.22865	2.451000	0.44952	1.025000	0.39708	0.655000	0.94253	GGG		0.328	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			T	74353498	G	T	74353498	3	4	69	1	0	0	0	0	1	0	0	0	361	1348	47	3	695	3	AFM	4	74353498	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10		74353498	116800778	19	3483											
IL8	3576	hgsc.bcm.edu	37	4	74607377	74607377	+	Nonsense_Mutation	SNP	C	C	A	rs147544998	byFrequency	TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr4:74607377C>A	ENST00000307407.3	+	2	336	c.183C>A	c.(181-183)tgC>tgA	p.C61*	IL8_ENST00000401931.1_Nonsense_Mutation_p.C61*	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		61					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)	p.C61*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		GACCACACTGCGCCAACACAG	0.348																																																1	Substitution - Nonsense(1)	ovary(1)	4											67	64	65					4																	74607377		2203	4300	6503	74826241	SO:0001587	stop_gained	3576																														ENST00000307407.3:c.183C>A	4.37:g.74607377C>A	ENSP00000306512:p.Cys61*		74826241	B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Nonsense_Mutation	SNP	ENST00000307407.3	37	CCDS34005.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304927	0.23736	.	.	ENSG00000169429	ENST00000307407;ENST00000401931	.	.	.	4.96	-5.47	0.02600	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9508	13.9569	0.64155	0.0:0.6602:0.0:0.3398	.	.	.	.	X	61	.	ENSP00000306512:C61X	C	+	3	2	IL8	74826241	0.001000	0.12720	0.006000	0.13384	0.031000	0.12232	-0.645000	0.05409	-0.854000	0.04131	-1.353000	0.01230	TGC		0.348	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322211.1			A	74607377	C	A	74607377	4	1	69	1	0	0	0	0	0	1	0	0	7706	776	27	3	189	3	IL8	4	74607377	Nonsense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	253879	74607377	116546899	20	3484											
SMAD1	4086	hgsc.bcm.edu	37	4	146478948	146478948	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr4:146478948G>C	ENST00000515385.1	+	7	1802	c.1260G>C	c.(1258-1260)tgG>tgC	p.W420C	SMAD1_ENST00000302085.4_Missense_Mutation_p.W420C|SMAD1_ENST00000394092.2_Missense_Mutation_p.W420C			Q15797	SMAD1_HUMAN	SMAD family member 1	420	L3 loop. {ECO:0000269|PubMed:11779505}.|MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.W420C(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCTAGGGCTGGGGAGCAGAAT	0.438											OREG0016348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(182;1287 2092 10326 35158 50562)											1	Substitution - Missense(1)	ovary(1)	4											121	126	125					4																	146478948		2203	4300	6503	146698398	SO:0001583	missense	4086			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"SMADs"	6767	protein-coding gene	gene with protein product		601595	"MAD, mothers against decapentaplegic homolog 1 (Drosophila)", "SMAD, mothers against DPP homolog 1 (Drosophila)"	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1260G>C	4.37:g.146478948G>C	ENSP00000426568:p.Trp420Cys	1702	146698398	A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562101	0.65538	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.99113	-5.44;-5.44;-5.44	5.49	5.49	0.81192	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97782	1.0233	10	0.87932	D	0	.	19.7383	0.96217	0.0:0.0:1.0:0.0	.	420	Q15797	SMAD1_HUMAN	C	420	ENSP00000305769:W420C;ENSP00000377652:W420C;ENSP00000426568:W420C	ENSP00000305769:W420C	W	+	3	0	SMAD1	146698398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.735000	0.93741	0.591000	0.81541	TGG		0.438	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		C	146478948	G	C	146478948	3	2	69	1	0	0	0	0	1	0	0	0	14760	1241	43	3	1282	3	SMAD1	4	146478948	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	71871571	146478948	44675328	21	3485											
OSMR	9180	hgsc.bcm.edu	37	5	38881711	38881711	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr5:38881711C>G	ENST00000274276.3	+	4	665	c.263C>G	c.(262-264)aCt>aGt	p.T88S	OSMR_ENST00000502536.1_Missense_Mutation_p.T88S	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	88					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.T88S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TACAGCACCACTGTGAAGTGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	5											121	110	114					5																	38881711		2203	4300	6503	38917468	SO:0001583	missense	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.263C>G	5.37:g.38881711C>G	ENSP00000274276:p.Thr88Ser		38917468	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053807	0.55218	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.64618	-0.11;-0.11	5.81	3.08	0.35506	.	1.057210	0.07219	N	0.860514	T	0.70833	0.3269	M	0.70275	2.135	0.22050	N	0.9994	D;P	0.63046	0.992;0.787	P;P	0.55545	0.778;0.526	T	0.52983	-0.8502	10	0.33940	T	0.23	.	7.1461	0.25583	0.0:0.7333:0.0:0.2666	.	88;88	Q99650;Q99650-2	OSMR_HUMAN;.	S	88	ENSP00000422023:T88S;ENSP00000274276:T88S	ENSP00000274276:T88S	T	+	2	0	OSMR	38917468	0.002000	0.14202	0.942000	0.38095	0.432000	0.31715	0.283000	0.18846	0.805000	0.34159	0.655000	0.94253	ACT		0.433	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		G	38881711	C	G	38881711	3	3	69	1	0	0	0	0	1	0	0	0	11292	565	20	3	273	3	OSMR	5	38881711	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10		38881711	142033549	22	3486											
HAPLN1	1404	hgsc.bcm.edu	37	5	82937601	82937601	+	Missense_Mutation	SNP	C	C	T	rs555462462		TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr5:82937601C>T	ENST00000274341.4	-	5	1629	c.779G>A	c.(778-780)cGt>cAt	p.R260H		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	260	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.R260H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ATAGTAAAAACGGCCTGTAGA	0.458													C|||	1	0.000199681	0	0	5008	,	,		17904	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5											107	110	109					5																	82937601		2203	4300	6503	82973357	SO:0001583	missense	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.779G>A	5.37:g.82937601C>T	ENSP00000274341:p.Arg260His		82973357	B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681038	0.29872	.	.	ENSG00000145681	ENST00000274341	T	0.09630	2.96	5.1	4.22	0.49857	Link (3);	0.102971	0.64402	D	0.000002	T	0.09642	0.0237	L	0.41573	1.285	0.80722	D	1	P	0.41232	0.743	B	0.33799	0.17	T	0.12734	-1.0536	10	0.38643	T	0.18	.	15.1733	0.72891	0.1423:0.8577:0.0:0.0	.	260	P10915	HPLN1_HUMAN	H	260	ENSP00000274341:R260H	ENSP00000274341:R260H	R	-	2	0	HAPLN1	82973357	0.771000	0.28555	0.856000	0.33681	0.870000	0.49936	1.924000	0.40065	1.245000	0.43885	0.655000	0.94253	CGT		0.458	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		T	82937601	C	T	82937601	3	4	69	1	0	0	0	0	1	0	0	0	6954	536	19	1	289	1	HAPLN1	5	82937601	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	44055890	82937601	97977659	23	3487											
MAN2A1	4124	hgsc.bcm.edu	37	5	109190892	109190892	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr5:109190892T>A	ENST00000261483.4	+	20	4080	c.3028T>A	c.(3028-3030)Tct>Act	p.S1010T	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1010					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.S1010T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CCACATAACTTCTTCTCTCAT	0.393																																																1	Substitution - Missense(1)	ovary(1)	5											156	130	139					5																	109190892		2202	4300	6502	109218791	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3028T>A	5.37:g.109190892T>A	ENSP00000261483:p.Ser1010Thr		109218791	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991324	0.74703	.	.	ENSG00000112893	ENST00000261483	D	0.83673	-1.75	5.96	4.77	0.60923	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.056337	0.64402	D	0.000001	D	0.87966	0.6311	M	0.82517	2.595	0.47441	D	0.999427	P	0.41159	0.74	P	0.50440	0.641	D	0.86471	0.1785	10	0.38643	T	0.18	-20.5302	12.3645	0.55221	0.1265:0.0:0.0:0.8735	.	1010	Q16706	MA2A1_HUMAN	T	1010	ENSP00000261483:S1010T	ENSP00000261483:S1010T	S	+	1	0	MAN2A1	109218791	0.996000	0.38824	0.025000	0.17156	0.905000	0.53344	4.855000	0.62925	1.022000	0.39626	0.533000	0.62120	TCT		0.393	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			A	109190892	T	A	109190892	3	1	69	1	0	0	0	0	1	0	0	0	9214	1783	62	5	3106	5	MAN2A1	5	109190892	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10	26253291	109190892	71724368	24	3488											
SLC34A1	6569	hgsc.bcm.edu	37	5	176815137	176815137	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr5:176815137G>A	ENST00000324417.5	+	7	878	c.787G>A	c.(787-789)Gct>Act	p.A263T	SLC34A1_ENST00000512593.1_Missense_Mutation_p.A263T	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	263					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.A263T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TGGCCGTGATGCTCCTGACCT	0.602																																																1	Substitution - Missense(1)	ovary(1)	5											77	66	70					5																	176815137		2203	4300	6503	176747743	SO:0001583	missense	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.787G>A	5.37:g.176815137G>A	ENSP00000321424:p.Ala263Thr		176747743	B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897231	0.33535	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	T;T	0.51325	0.71;1.27	5.05	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.73598	2.24	0.47037	D	0.999296	B	0.12013	0.005	B	0.17433	0.018	T	0.51608	-0.8684	10	0.56958	D	0.05	-22.1023	13.6673	0.62403	0.0753:0.0:0.9247:0.0	.	263	Q06495	NPT2A_HUMAN	T	263	ENSP00000423022:A263T;ENSP00000321424:A263T	ENSP00000321424:A263T	A	+	1	0	SLC34A1	176747743	1.000000	0.71417	0.769000	0.31535	0.095000	0.18619	7.876000	0.87215	1.151000	0.42436	-0.254000	0.11334	GCT		0.602	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		A	176815137	G	A	176815137	3	1	69	1	0	0	0	0	1	0	0	0	14570	1319	46	2	809	2	SLC34A1	5	176815137	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	67624245	176815137	4100123	25	3489											
MAPK9	5601	hgsc.bcm.edu	37	5	179691823	179691823	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr5:179691823T>C	ENST00000452135.2	-	4	567	c.269A>G	c.(268-270)aAt>aGt	p.N90S	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.N90S|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000347470.4_Missense_Mutation_p.N90S|MAPK9_ENST00000539014.1_Missense_Mutation_p.N90S|MAPK9_ENST00000343111.6_Missense_Mutation_p.N90S|MAPK9_ENST00000455781.1_Missense_Mutation_p.N90S|MAPK9_ENST00000393360.3_Missense_Mutation_p.N90S			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.N90S(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTAAACACATTTAACAAACT	0.244																																																1	Substitution - Missense(1)	ovary(1)	5											36	37	37					5																	179691823		2180	4279	6459	179624429	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.269A>G	5.37:g.179691823T>C	ENSP00000394560:p.Asn90Ser		179624429	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372566	0.61624	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014;ENST00000523583	D;D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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	0.75295	0.3830	L	0.35288	1.05	0.80722	D	1	B;B;B;P;B	0.39044	0.145;0.409;0.232;0.656;0.09	B;B;B;B;B	0.33890	0.064;0.172;0.113;0.171;0.053	T	0.79157	-0.1919	10	0.87932	D	0	-35.4792	15.6337	0.76933	0.0:0.0:0.0:1.0	.	90;90;90;90;90	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	S	90	ENSP00000394560:N90S;ENSP00000377028:N90S;ENSP00000389338:N90S;ENSP00000345524:N90S;ENSP00000321410:N90S;ENSP00000397422:N90S;ENSP00000443149:N90S;ENSP00000430608:N90S	ENSP00000345524:N90S	N	-	2	0	MAPK9	179624429	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.189000	0.72051	2.110000	0.64415	0.533000	0.62120	AAT		0.244	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			C	179691823	T	C	179691823	3	2	69	1	0	0	0	0	1	0	0	0	9287	1493	52	4	1163	4	MAPK9	5	179691823	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10	2876686	179691823	1223437	26	3490											
HIST1H1C	3006	hgsc.bcm.edu	37	6	26056475	26056475	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr6:26056475G>A	ENST00000343677.2	-	1	224	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	61	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A61V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTTTTTCAGAGCAGCCAGAGA	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											80	89	86					6																	26056475		2203	4300	6503	26164454	SO:0001583	missense	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.182C>T	6.37:g.26056475G>A	ENSP00000339566:p.Ala61Val		26164454	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925109	0.73213	.	.	ENSG00000187837	ENST00000343677	T	0.15718	2.4	5.73	5.73	0.89815	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.111358	0.64402	D	0.000012	T	0.53899	0.1825	H	0.97265	3.97	0.80722	D	1	D	0.55605	0.972	D	0.66716	0.946	T	0.69870	-0.5028	10	0.87932	D	0	-17.3791	19.2479	0.93909	0.0:0.0:1.0:0.0	.	61	P16403	H12_HUMAN	V	61	ENSP00000339566:A61V	ENSP00000339566:A61V	A	-	2	0	HIST1H1C	26164454	1.000000	0.71417	0.991000	0.47740	0.004000	0.04260	6.551000	0.73909	2.861000	0.98227	0.655000	0.94253	GCT		0.577	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		A	26056475	G	A	26056475	3	1	69	1	0	0	0	0	1	0	0	0	7124	971	34	2	463	2	HIST1H1C	6	26056475	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10		26056475	145058592	27	3491											
FAM83B	222584	hgsc.bcm.edu	37	6	54805235	54805235	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr6:54805235A>G	ENST00000306858.7	+	5	1582	c.1466A>G	c.(1465-1467)aAg>aGg	p.K489R	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	489								p.K489R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CATACCACAAAGTCATTCCTA	0.423																																																1	Substitution - Missense(1)	ovary(1)	6											94	94	94					6																	54805235		2203	4300	6503	54913194	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1466A>G	6.37:g.54805235A>G	ENSP00000304078:p.Lys489Arg		54913194	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.288979	0.59976	.	.	ENSG00000168143	ENST00000306858	T	0.37915	1.17	5.56	4.37	0.52481	.	0.060918	0.64402	N	0.000003	T	0.12475	0.0303	L	0.29908	0.895	0.46725	D	0.999175	P	0.38110	0.618	B	0.32211	0.142	T	0.04140	-1.0974	10	0.59425	D	0.04	-22.0251	10.8888	0.46984	0.9217:0.0:0.0783:0.0	.	489	Q5T0W9	FA83B_HUMAN	R	489	ENSP00000304078:K489R	ENSP00000304078:K489R	K	+	2	0	FAM83B	54913194	1.000000	0.71417	0.877000	0.34402	0.989000	0.77384	5.818000	0.69236	1.006000	0.39211	-0.408000	0.06270	AAG		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		G	54805235	A	G	54805235	3	3	69	1	0	0	0	0	1	0	0	0	5634	72	3	4	1480	4	FAM83B	6	54805235	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10	28748760	54805235	116309832	28	3492											
LATS1	9113	hgsc.bcm.edu	37	6	149983176	149983176	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr6:149983176G>T	ENST00000543571.1	-	8	3629	c.3082C>A	c.(3082-3084)Cct>Act	p.P1028T	LATS1_ENST00000253339.5_Missense_Mutation_p.P1028T	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.P1028T(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTGATTTTAGGAATGTATGAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											108	108	108					6																	149983176		2203	4300	6503	150024869	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3082C>A	6.37:g.149983176G>T	ENSP00000437550:p.Pro1028Thr		150024869		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502451	0.64298	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.08807	3.05;3.05	5.6	4.73	0.59995	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.122314	0.37261	N	0.002171	T	0.30665	0.0772	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50303	-0.8844	9	.	.	.	.	14.4715	0.67519	0.0709:0.0:0.9291:0.0	.	1028	O95835	LATS1_HUMAN	T	1028	ENSP00000437550:P1028T;ENSP00000253339:P1028T	.	P	-	1	0	LATS1	150024869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	1.378000	0.46305	0.591000	0.81541	CCT		0.368	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		T	149983176	G	T	149983176	3	4	69	1	0	0	0	0	1	0	0	0	8646	1174	41	3	314	3	LATS1	6	149983176	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	95177941	149983176	21131891	29	3493											
INHBA	3624	hgsc.bcm.edu	37	7	41729762	41729763	+	In_Frame_Ins	INS	-	-	GTC			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr7:41729762_41729763insGTC	ENST00000242208.4	-	3	1012_1013	c.766_767insGAC	c.(766-768)ctc>cGACtc	p.255_256insR	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_In_Frame_Ins_p.255_256insR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	255					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.V255_L256insR(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctTGCCCAGGAGAACCAAGCTG	0.589										TSP Lung(11;0.080)																																						1	Insertion - In frame(1)	ovary(1)	7																																								41696288	SO:0001652	inframe_insertion	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.766_767insGAC	7.37:g.41729762_41729763insGTC	ENSP00000242208:p.Val255_Leu256insArg		41696287	Q14599	In_Frame_Ins	INS	ENST00000242208.4	37	CCDS5464.1																																																																																				0.589	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			GTC	41729763	-	GTC	41729762	7	5	69	1	0	1	1	0	0	0	0	0	7741	304	11	0	517	0	INHBA	7	41729762	In_Frame_Ins	INS	-	TCGA-13-0714-01A-01W-0370-10		41729762	117408901	30	3494											
PPP1R3A	5506	hgsc.bcm.edu	37	7	113517843	113517843	+	Missense_Mutation	SNP	C	C	T	rs201451205		TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr7:113517843C>T	ENST00000284601.3	-	4	3372	c.3304G>A	c.(3304-3306)Gtt>Att	p.V1102I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1102					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.V1102I(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AATGACAAAACGTAGAATGTC	0.338													G|||	1	0.000199681	0	0	5008	,	,		19558	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7											87	88	88					7																	113517843		2203	4299	6502	113305079	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3304G>A	7.37:g.113517843C>T	ENSP00000284601:p.Val1102Ile		113305079	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.33	3.600409	0.66332	.	.	ENSG00000154415	ENST00000284601	T	0.16457	2.34	5.85	4.97	0.65823	.	0.363457	0.23243	N	0.050334	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.23691	-1.0181	10	0.87932	D	0	-3.8195	9.6476	0.39877	0.1023:0.2367:0.661:0.0	.	1102	Q16821	PPR3A_HUMAN	I	1102	ENSP00000284601:V1102I	ENSP00000284601:V1102I	V	-	1	0	PPP1R3A	113305079	1.000000	0.71417	0.979000	0.43373	0.898000	0.52572	1.354000	0.34056	0.825000	0.34637	-0.127000	0.14921	GTT		0.338	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113517843	C	T	113517843	3	4	69	1	0	0	0	0	1	0	0	0	12374	536	19	1	68	1	PPP1R3A	7	113517843	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	71788081	113517843	45620820	31	3495											
MYST3	7994	hgsc.bcm.edu	37	8	41801475	41801475	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr8:41801475T>G	ENST00000396930.3	-	14	2562	c.2019A>C	c.(2017-2019)gaA>gaC	p.E673D	KAT6A_ENST00000265713.2_Missense_Mutation_p.E673D|KAT6A_ENST00000485568.1_Missense_Mutation_p.E673D|KAT6A_ENST00000406337.1_Missense_Mutation_p.E673D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	673	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E673D(1)									CTGCTTGGCCTTCACGCTTTG	0.398																																																1	Substitution - Missense(1)	ovary(1)	8											89	76	80					8																	41801475		2203	4300	6503	41920632	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2019A>C	8.37:g.41801475T>G	ENSP00000380136:p.Glu673Asp		41920632	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444511	0.43429	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.87966	-0.31;-0.31;-0.31;-2.32	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.93380	0.7889	M	0.89658	3.05	0.58432	D	0.999997	P;D	0.54207	0.817;0.965	P;D	0.66196	0.889;0.942	D	0.93963	0.7242	10	0.87932	D	0	-24.869	8.3892	0.32518	0.0:0.1484:0.0:0.8516	.	673;673	A5PLL3;Q92794	.;KAT6A_HUMAN	D	673;673;673;253;673	ENSP00000265713:E673D;ENSP00000385888:E673D;ENSP00000380136:E673D;ENSP00000430606:E673D	ENSP00000265713:E673D	E	-	3	2	KAT6A	41920632	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.613000	0.24299	2.279000	0.76181	0.533000	0.62120	GAA		0.398	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		G	41801475	T	G	41801475	3	3	69	1	0	0	0	0	1	0	0	0	10104	1606	56	5	4015	5	MYST3	8	41801475	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10		41801475	104562547	32	3496											
NDRG1	10397	hgsc.bcm.edu	37	8	134296506	134296506	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr8:134296506C>A	ENST00000414097.2	-	2	916	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	NDRG1_ENST00000537882.1_5'UTR|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000518176.1_Splice_Site|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.V17L|NDRG1_ENST00000323851.7_Missense_Mutation_p.V17L	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	17					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.V17L(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCTTTCTCCACCAAAGGCTTC	0.542			T	ERG	prostate																																		Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	1	Substitution - Missense(1)	ovary(1)	8											240	172	195					8																	134296506		2203	4300	6503	134365688	SO:0001583	missense	10397			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.49G>T	8.37:g.134296506C>A	ENSP00000404854:p.Val17Leu		134365688	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	CCDS34945.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.41|19.41	3.822292|3.822292	0.71028|0.71028	.|.	.|.	ENSG00000104419|ENSG00000104419	ENST00000518176|ENST00000323851;ENST00000537144;ENST00000354944;ENST00000414097;ENST00000520230;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738	.|T;T;T;T;T;T;T;T;T;T	.|0.16073	.|2.65;2.77;2.65;2.54;2.6;2.57;2.57;2.55;2.57;2.37	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.146267	.|0.50627	.|D	.|0.000118	.|T	.|0.08935	.|0.0221	N|N	0.13043|0.13043	0.29|0.29	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	.|T	.|0.07731	.|-1.0757	.|10	.|0.02654	.|T	.|1	.|-37.4411	13.4226|13.4226	0.61007|0.61007	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|17	.|Q92597	.|NDRG1_HUMAN	.|L	-1|17;17;17;17;34;17;17;17;28;17;71	.|ENSP00000319977:V17L;ENSP00000347028:V17L;ENSP00000404854:V17L;ENSP00000428345:V34L;ENSP00000429994:V17L;ENSP00000429272:V17L;ENSP00000428384:V17L;ENSP00000429840:V28L;ENSP00000429524:V17L;ENSP00000428991:V71L	.|ENSP00000319977:V17L	.|V	-|-	.|1	.|0	NDRG1|NDRG1	134365688|134365688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.701000|3.701000	0.54793|0.54793	2.539000|2.539000	0.85634|0.85634	0.555000|0.555000	0.69702|0.69702	.|GTG		0.542	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			A	134296506	C	A	134296506	3	1	69	1	0	0	0	0	1	0	0	0	10251	507	18	3	1195	3	NDRG1	8	134296506	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	92495031	134296506	12067516	33	3497											
DENND1A	57706	hgsc.bcm.edu	37	9	126146015	126146015	+	Silent	SNP	C	C	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr9:126146015C>T	ENST00000373624.2	-	21	1956	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q	DENND1A_ENST00000542603.1_Silent_p.Q370Q|DENND1A_ENST00000394219.3_Silent_p.Q596Q|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	585					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q585Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGCCCAGTGGCTGCAGTGCGG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	9											80	73	75					9																	126146015		2203	4300	6503	125185836	SO:0001819	synonymous_variant	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1755G>A	9.37:g.126146015C>T			125185836	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	CCDS35133.1																																																																																				0.622	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		T	126146015	C	T	126146015	2	4	69	1	0	0	0	0	0	0	0	1	4426	796	28	2		2	DENND1A	9	126146015	Silent	SNP	C	TCGA-13-0714-01A-01W-0370-10		126146015	15067416	34	3498											
ANXA11	311	hgsc.bcm.edu	37	10	81930605	81930605	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr10:81930605T>A	ENST00000438331.1	-	5	604	c.122A>T	c.(121-123)aAc>aTc	p.N41I	ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41I|ANXA11_ENST00000535999.1_Missense_Mutation_p.N41I|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41I|ANXA11_ENST00000372231.3_Missense_Mutation_p.N41I|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8I|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41I	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	41					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.N41I(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTGGCCACGTTATCCAGCCC	0.652																																																1	Substitution - Missense(1)	ovary(1)	10											73	65	67					10																	81930605		2203	4300	6503	81920585	SO:0001583	missense	311			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.122A>T	10.37:g.81930605T>A	ENSP00000398610:p.Asn41Ile		81920585	B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	12.50	1.957838	0.34565	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.02446	4.48;4.48;4.48;4.48;4.48;4.48;4.29	4.69	4.69	0.59074	.	3.387150	0.00706	N	0.000810	T	0.13200	0.0320	L	0.44542	1.39	0.49582	D	0.999805	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79784	0.993;0.987;0.987	T	0.00219	-1.1907	10	0.51188	T	0.08	.	12.4176	0.55502	0.0:0.0:0.0:1.0	.	141;41;41	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	I	41;41;41;41;41;41;41;8;41;41	ENSP00000361305:N41I;ENSP00000404412:N41I;ENSP00000398610:N41I;ENSP00000353827:N41I;ENSP00000265447:N41I;ENSP00000441748:N41I;ENSP00000441400:N8I	ENSP00000265447:N41I	N	-	2	0	ANXA11	81920585	1.000000	0.71417	0.992000	0.48379	0.096000	0.18686	4.811000	0.62606	1.886000	0.54624	0.364000	0.22116	AAC		0.652	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		A	81930605	T	A	81930605	3	1	69	1	0	0	0	0	1	0	0	0	716	1725	60	5	1447	5	ANXA11	10	81930605	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10		81930605	53604142	35	3499											
STK32C	282974	hgsc.bcm.edu	37	10	134039035	134039035	+	Nonsense_Mutation	SNP	G	G	C			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr10:134039035G>C	ENST00000368622.1	-	6	798	c.417C>G	c.(415-417)taC>taG	p.Y139*	STK32C_ENST00000368625.4_Nonsense_Mutation_p.Y269*					serine/threonine kinase 32C									p.Y256*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCTCACCCATGTACGGCTTGG	0.622																																																1	Substitution - Nonsense(1)	ovary(1)	10											127	115	119					10																	134039035		2203	4300	6503	133889025	SO:0001587	stop_gained	282974			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.417C>G	10.37:g.134039035G>C	ENSP00000357611:p.Tyr139*		133889025		Nonsense_Mutation	SNP	ENST00000368622.1	37		.	.	.	.	.	.	.	.	.	.	G	37	6.555285	0.97658	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	.	.	.	4.45	2.57	0.30868	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1884	0.25813	0.2786:0.0:0.7214:0.0	.	.	.	.	X	139;256;269	.	ENSP00000298630:Y256X	Y	-	3	2	STK32C	133889025	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	1.693000	0.37742	0.881000	0.35993	-0.236000	0.12185	TAC		0.622	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		C	134039035	G	C	134039035	4	2	69	1	0	0	0	0	0	1	0	0	15301	1372	48	3	720	3	STK32C	10	134039035	Nonsense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	52108430	134039035	1495712	36	3500	8	2									
STK32C	282974	hgsc.bcm.edu	37	10	134039037	134039037	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr10:134039037A>T	ENST00000368622.1	-	6	796	c.415T>A	c.(415-417)Tac>Aac	p.Y139N	STK32C_ENST00000368625.4_Missense_Mutation_p.Y269N					serine/threonine kinase 32C									p.Y256N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCACCCATGTACGGCTTGGTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	10											128	116	120					10																	134039037		2203	4300	6503	133889027	SO:0001583	missense	282974			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.415T>A	10.37:g.134039037A>T	ENSP00000357611:p.Tyr139Asn		133889027		Missense_Mutation	SNP	ENST00000368622.1	37		.	.	.	.	.	.	.	.	.	.	A	19.90	3.913255	0.72983	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.59638	0.25;0.25;0.25	4.45	4.45	0.53987	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	0.56097	D	0.000028	D	0.84229	0.5426	H	0.98849	4.35	0.80722	D	1	P;D;D	0.71674	0.85;0.971;0.998	P;P;D	0.71656	0.652;0.787;0.974	D	0.89605	0.3837	10	0.87932	D	0	.	12.309	0.54918	1.0:0.0:0.0:0.0	.	269;195;256	B7Z7J1;F2Z300;Q86UX6	.;.;ST32C_HUMAN	N	139;256;269	ENSP00000357611:Y139N;ENSP00000298630:Y256N;ENSP00000357614:Y269N	ENSP00000298630:Y256N	Y	-	1	0	STK32C	133889027	1.000000	0.71417	0.990000	0.47175	0.597000	0.36814	8.662000	0.91130	1.660000	0.50760	0.477000	0.44152	TAC		0.622	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		T	134039037	A	T	134039037	3	4	69	1	0	0	0	0	1	0	0	0	15301	391	14	5	722	5	STK32C	10	134039037	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10	2	134039037	1495710	37	3501	8	2									
PAOX	196743	hgsc.bcm.edu	37	10	135197635	135197639	+	Frame_Shift_Del	DEL	CGCCC	CGCCC	-	rs200606164		TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	CGCCC	CGCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr10:135197635_135197639delCGCCC	ENST00000278060.5	+	4	1123_1127	c.1040_1044delCGCCC	c.(1039-1044)tcgcccfs	p.SP347fs	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Frame_Shift_Del_p.SP347fs|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	485					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GAGGACACGTCGCCCCTGGAGGATG	0.571																																																0			10																																								135047629	SO:0001589	frameshift_variant	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1040_1044delCGCCC	10.37:g.135197635_135197639delCGCCC	ENSP00000278060:p.Ser347fs		135047625	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Frame_Shift_Del	DEL	ENST00000278060.5	37	CCDS7683.1																																																																																				0.571	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		-	135197639	CGCCC	-	135197635	7	5	69	1	0	1	0	1	0	0	0	0	11423	893	31	0	1054	0	PAOX	10	135197635	Frame_Shift_Del	DEL	CGCCC	TCGA-13-0714-01A-01W-0370-10	1158598	135197635	337112	38	3502											
ARHGAP1	392	hgsc.bcm.edu	37	11	46702633	46702633	+	Missense_Mutation	SNP	T	T	C	rs566268205		TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr11:46702633T>C	ENST00000311956.4	-	7	660	c.563A>G	c.(562-564)tAt>tGt	p.Y188C		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	188	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.Y188C(1)		endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GTAATTCACATAGAAGATCTT	0.627													T|||	1	0.000199681	8e-04	0	5008	,	,		15226	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11											81	86	84					11																	46702633		2201	4299	6500	46659209	SO:0001583	missense	392			BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.563A>G	11.37:g.46702633T>C	ENSP00000310491:p.Tyr188Cys		46659209	D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547166	0.86022	.	.	ENSG00000175220	ENST00000311956;ENST00000443332;ENST00000525488	T;T	0.67865	-0.29;-0.29	5.0	5.0	0.66597	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90327	0.4349	10	0.87932	D	0	.	14.7387	0.69437	0.0:0.0:0.0:1.0	.	188	Q07960	RHG01_HUMAN	C	188	ENSP00000310491:Y188C;ENSP00000432794:Y188C	ENSP00000310491:Y188C	Y	-	2	0	ARHGAP1	46659209	1.000000	0.71417	0.984000	0.44739	0.971000	0.66376	7.723000	0.84788	1.889000	0.54706	0.459000	0.35465	TAT		0.627	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		C	46702633	T	C	46702633	3	2	69	1	0	0	0	0	1	0	0	0	861	1406	49	4	784	4	ARHGAP1	11	46702633	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10		46702633	88303883	39	3503											
OR9Q1	219956	hgsc.bcm.edu	37	11	57947605	57947605	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr11:57947605C>T	ENST00000335397.3	+	3	1005	c.689C>T	c.(688-690)gCt>gTt	p.A230V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A230V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GGGATCCCTGCTGGAAGCCAG	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											237	185	203					11																	57947605		2201	4296	6497	57704181	SO:0001583	missense	219956			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"GPCR / Class A : Olfactory receptors"	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.689C>T	11.37:g.57947605C>T	ENSP00000334934:p.Ala230Val		57704181	Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	C	6.448	0.450824	0.12223	.	.	ENSG00000186509	ENST00000335397	T	0.00198	8.57	4.77	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.139437	0.32935	N	0.005473	T	0.00144	0.0004	N	0.17764	0.52	0.09310	N	1	B	0.19817	0.039	B	0.25987	0.065	T	0.32402	-0.9908	10	0.87932	D	0	-4.2786	7.5583	0.27837	0.0:0.7069:0.1365:0.1566	.	230	Q8NGQ5	OR9Q1_HUMAN	V	230	ENSP00000334934:A230V	ENSP00000334934:A230V	A	+	2	0	OR9Q1	57704181	0.000000	0.05858	0.011000	0.14972	0.031000	0.12232	0.023000	0.13533	0.740000	0.32651	0.484000	0.47621	GCT		0.498	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		T	57947605	C	T	57947605	3	4	69	1	0	0	0	0	1	0	0	0	11255	797	28	2	691	2	OR9Q1	11	57947605	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	11244972	57947605	77058911	40	3504											
PC	5091	hgsc.bcm.edu	37	11	66639505	66639505	+	Silent	SNP	C	C	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr11:66639505C>G	ENST00000393958.2	-	3	219	c.126G>C	c.(124-126)gtG>gtC	p.V42V	PC_ENST00000393955.2_Silent_p.V42V|PC_ENST00000393960.1_Silent_p.V42V|PC_ENST00000355677.3_Silent_p.V42V|PC_ENST00000524491.1_Silent_p.V2V	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	42	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.V42V(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTCTGTTGGCCACCATGACTT	0.657																																																1	Substitution - coding silent(1)	ovary(1)	11											26	20	22					11																	66639505		2175	4268	6443	66396081	SO:0001819	synonymous_variant	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.126G>C	11.37:g.66639505C>G			66396081	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																				0.657	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		G	66639505	C	G	66639505	2	3	69	1	0	0	0	0	0	0	0	1	11497	581	21	3		3	PC	11	66639505	Silent	SNP	C	TCGA-13-0714-01A-01W-0370-10	8691900	66639505	68367011	41	3505											
TIMELESS	8914	hgsc.bcm.edu	37	12	56817161	56817161	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr12:56817161T>C	ENST00000553532.1	-	18	2339	c.2189A>G	c.(2188-2190)cAc>cGc	p.H730R	TIMELESS_ENST00000229201.4_Missense_Mutation_p.H729R|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.H730R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGCCAGCCGGTGCAGCATCTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											146	131	136					12																	56817161		2203	4300	6503	55103428	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2189A>G	12.37:g.56817161T>C	ENSP00000450607:p.His730Arg		55103428		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634429	0.87660	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.12465	2.68;2.68	5.61	5.61	0.85477	Timeless C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04621	-1.0938	10	0.44086	T	0.13	-23.2738	15.0896	0.72183	0.0:0.0:0.0:1.0	.	730	Q9UNS1	TIM_HUMAN	R	729;730	ENSP00000229201:H729R;ENSP00000450607:H730R	ENSP00000229201:H730R	H	-	2	0	TIMELESS	55103428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.656000	0.83736	2.271000	0.75665	0.459000	0.35465	CAC		0.507	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		C	56817161	T	C	56817161	3	2	69	1	0	0	0	0	1	0	0	0	15904	1696	59	4	1485	4	TIMELESS	12	56817161	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10		56817161	77034734	42	3506											
LRP1	4035	hgsc.bcm.edu	37	12	57604989	57604989	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr12:57604989G>T	ENST00000243077.3	+	84	13413	c.12947G>T	c.(12946-12948)gGc>gTc	p.G4316V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4316	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.G4316V(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGAACTTTGGCACATGCCAG	0.577																																																1	Substitution - Missense(1)	ovary(1)	12											91	72	78					12																	57604989		2203	4300	6503	55891256	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12947G>T	12.37:g.57604989G>T	ENSP00000243077:p.Gly4316Val		55891256	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.657942	0.67586	.	.	ENSG00000123384	ENST00000243077	T	0.10668	2.85	4.39	4.39	0.52855	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000033	T	0.11110	0.0271	L	0.38175	1.15	0.80722	D	1	P	0.35982	0.531	B	0.34779	0.189	T	0.08994	-1.0695	10	0.72032	D	0.01	.	15.8831	0.79219	0.0:0.0:1.0:0.0	.	4316	Q07954	LRP1_HUMAN	V	4316	ENSP00000243077:G4316V	ENSP00000243077:G4316V	G	+	2	0	LRP1	55891256	1.000000	0.71417	0.989000	0.46669	0.817000	0.46193	5.447000	0.66606	2.292000	0.77174	0.462000	0.41574	GGC		0.577	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57604989	G	T	57604989	3	4	69	1	0	0	0	0	1	0	0	0	8951	1203	42	3	13281	3	LRP1	12	57604989	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	787828	57604989	76246906	43	3507											
STAB2	55576	hgsc.bcm.edu	37	12	104089335	104089335	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr12:104089335T>A	ENST00000388887.2	+	32	3587	c.3383T>A	c.(3382-3384)gTc>gAc	p.V1128D		NM_017564.9	NP_060034.9			stabilin 2									p.V1128D(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGTGCTGGTCCCACAAAGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	12											147	144	145					12																	104089335		2203	4300	6503	102613465	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3383T>A	12.37:g.104089335T>A	ENSP00000373539:p.Val1128Asp		102613465		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565569	0.27915	.	.	ENSG00000136011	ENST00000388887	D	0.91295	-2.82	6.17	6.17	0.99709	FAS1 domain (4);Growth factor, receptor (1);	0.978988	0.08375	N	0.955446	D	0.88403	0.6427	L	0.42744	1.35	0.26108	N	0.980729	P	0.42941	0.794	B	0.43413	0.419	T	0.79037	-0.1967	10	0.34782	T	0.22	.	8.5498	0.33444	0.0:0.1784:0.0:0.8216	.	1128	Q8WWQ8	STAB2_HUMAN	D	1128	ENSP00000373539:V1128D	ENSP00000373539:V1128D	V	+	2	0	STAB2	102613465	0.302000	0.24454	0.838000	0.33150	0.169000	0.22640	1.775000	0.38584	2.371000	0.80710	0.533000	0.62120	GTC		0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104089335	T	A	104089335	3	1	69	1	0	0	0	0	1	0	0	0	15240	1667	58	5	3509	5	STAB2	12	104089335	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10	46484346	104089335	29762560	44	3508											
ZMYM2	7750	hgsc.bcm.edu	37	13	20638635	20638635	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr13:20638635G>A	ENST00000382874.2	+	20	3272	c.3082G>A	c.(3082-3084)Gtt>Att	p.V1028I	ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1028I|ZMYM2_ENST00000382869.3_Missense_Mutation_p.V1028I	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1028					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.V1026I(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATTACCACCTGTTTTTGGCGA	0.338																																																1	Substitution - Missense(1)	ovary(1)	13											120	110	113					13																	20638635		1822	4087	5909	19536635	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3082G>A	13.37:g.20638635G>A	ENSP00000372327:p.Val1028Ile		19536635	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455595	0.84209	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.18657	2.2	5.52	5.52	0.82312	.	0.107103	0.64402	D	0.000006	T	0.23926	0.0579	N	0.21373	0.66	0.80722	D	1	P	0.49961	0.93	P	0.48627	0.584	T	0.00740	-1.1586	10	0.39692	T	0.17	-17.314	19.8024	0.96513	0.0:0.0:1.0:0.0	.	1028	Q9UBW7	ZMYM2_HUMAN	I	1028;1028;1026;1026;406	ENSP00000372322:V1028I	ENSP00000372322:V1028I	V	+	1	0	ZMYM2	19536635	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.103000	0.77014	2.752000	0.94435	0.655000	0.94253	GTT		0.338	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		A	20638635	G	A	20638635	3	1	69	1	0	0	0	0	1	0	0	0	17700	1377	48	2	3148	2	ZMYM2	13	20638635	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10		20638635	94531243	45	3509											
RNF113B	140432	hgsc.bcm.edu	37	13	98828795	98828795	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr13:98828795C>A	ENST00000267291.6	-	1	724	c.696G>T	c.(694-696)gaG>gaT	p.E232D	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	232							zinc ion binding (GO:0008270)	p.E232D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			AGTAGCGACCCTCTTCAAGCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	13											100	93	95					13																	98828795		2203	4300	6503	97626796	SO:0001583	missense	140432			AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"RING-type (C3HC4) zinc fingers"	17267	protein-coding gene	gene with protein product			"zinc finger protein 183-like 1"	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.696G>T	13.37:g.98828795C>A	ENSP00000267291:p.Glu232Asp		97626796	Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	6.846	0.525438	0.13066	.	.	ENSG00000139797	ENST00000267291	T	0.35236	1.32	1.57	1.57	0.23409	.	0.000000	0.85682	U	0.000000	T	0.24890	0.0604	L	0.46670	1.46	0.34798	D	0.736388	B	0.15719	0.014	B	0.18561	0.022	T	0.14448	-1.0472	10	0.30854	T	0.27	.	3.9617	0.09413	0.0:0.7742:0.0:0.2258	.	232	Q8IZP6	R113B_HUMAN	D	232	ENSP00000267291:E232D	ENSP00000267291:E232D	E	-	3	2	RNF113B	97626796	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	0.924000	0.28777	1.176000	0.42840	0.591000	0.81541	GAG		0.527	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		A	98828795	C	A	98828795	3	1	69	1	0	0	0	0	1	0	0	0	13431	680	24	3	280	3	RNF113B	13	98828795	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	78190160	98828795	16341083	46	3510											
HECTD1	25831	hgsc.bcm.edu	37	14	31578715	31578715	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr14:31578715A>T	ENST00000399332.1	-	36	6856	c.6368T>A	c.(6367-6369)tTt>tAt	p.F2123Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.F2123Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2123					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.F2123Y(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACCAACTCGAAACTCTCCAGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	14											107	109	108					14																	31578715		2051	4207	6258	30648466	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6368T>A	14.37:g.31578715A>T	ENSP00000382269:p.Phe2123Tyr		30648466	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.1|22.1	4.248873|4.248873	0.80024|0.80024	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	T|T;T	0.14391|0.12672	2.51|2.66;2.66	5.73|5.73	5.73|5.73	0.89815|0.89815	.|HECT (1);	0.000000|0.000000	0.85682|0.85682	U|U	0.000000|0.000000	T|T	0.23330|0.23330	0.0564|0.0564	L|L	0.39326|0.39326	1.205|1.205	0.80722|0.80722	D|D	1|1	.|P	.|0.49447	.|0.924	.|P	.|0.57776	.|0.827	T|T	0.02933|0.02933	-1.1092|-1.1092	7|10	.|0.13853	.|T	.|0.58	-13.3026|-13.3026	16.0096|16.0096	0.80391|0.80391	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2123	.|Q9ULT8	.|HECD1_HUMAN	I|Y	489|2123;2125;2123	ENSP00000451260:F489I|ENSP00000450697:F2123Y;ENSP00000382269:F2123Y	.|ENSP00000261312:F2125Y	F|F	-|-	1|2	0|0	HECTD1|HECTD1	30648466|30648466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.678000|8.678000	0.91211|0.91211	2.184000|2.184000	0.69523|0.69523	0.477000|0.477000	0.44152|0.44152	TTC|TTT		0.473	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			T	31578715	A	T	31578715	3	4	69	1	0	0	0	0	1	0	0	0	7039	14	1	5	1496	5	HECTD1	14	31578715	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10		31578715	75770825	47	3511											
MARK3	4140	hgsc.bcm.edu	37	14	103918266	103918266	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr14:103918266G>A	ENST00000429436.2	+	5	868	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MARK3_ENST00000303622.9_Missense_Mutation_p.E120K|MARK3_ENST00000335102.5_Missense_Mutation_p.E120K|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.E120K|MARK3_ENST00000216288.7_Missense_Mutation_p.E120K|MARK3_ENST00000440884.3_Missense_Mutation_p.E120K|MARK3_ENST00000553942.1_Missense_Mutation_p.E120K	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E120K(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GAAGTTATTCGAAGTCATTGA	0.353																																																4	Substitution - Missense(4)	prostate(2)|ovary(1)|large_intestine(1)	14											171	168	169					14																	103918266		1851	4107	5958	102988019	SO:0001583	missense	4140			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.358G>A	14.37:g.103918266G>A	ENSP00000411397:p.Glu120Lys		102988019	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086533	0.76642	.	.	ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T;T	0.26223	1.75;3.07;1.75;1.75;1.75;1.75;1.75	5.89	5.89	0.94794	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	0.53449	0.1797	M	0.70108	2.13	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.87578	0.903;0.997;0.998;0.998;0.993;0.996	T	0.51957	-0.8639	10	0.72032	D	0.01	.	19.0276	0.92939	0.0:0.0:1.0:0.0	.	120;120;120;120;120;120	P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;MARK3_HUMAN;.;.;.	K	120	ENSP00000335347:E120K;ENSP00000402104:E120K;ENSP00000408092:E120K;ENSP00000411397:E120K;ENSP00000303698:E120K;ENSP00000216288:E120K;ENSP00000450772:E120K	ENSP00000216288:E120K	E	+	1	0	MARK3	102988019	1.000000	0.71417	0.999000	0.59377	0.020000	0.10135	8.655000	0.91098	2.797000	0.96272	0.563000	0.77884	GAA		0.353	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		A	103918266	G	A	103918266	3	1	69	1	0	0	0	0	1	0	0	0	9314	1059	37	1	376	1	MARK3	14	103918266	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	72339551	103918266	3431274	48	3512											
ACTC1	70	hgsc.bcm.edu	37	15	35084378	35084378	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr15:35084378T>C	ENST00000290378.4	-	5	1376	c.721A>G	c.(721-723)Agc>Ggc	p.S241G	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	241					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.S241G(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGTTCATAGCTCTTCTCCAGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	15											88	83	85					15																	35084378		2201	4298	6499	32871670	SO:0001583	missense	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.721A>G	15.37:g.35084378T>C	ENSP00000290378:p.Ser241Gly		32871670	P04270	Missense_Mutation	SNP	ENST00000290378.4	37	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114268	0.37339	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94862	-3.54	4.75	4.75	0.60458	.	0.206670	0.30809	U	0.008825	D	0.95364	0.8495	M	0.92691	3.335	0.49299	D	0.999778	B	0.19935	0.04	B	0.15870	0.014	D	0.94548	0.7751	10	0.87932	D	0	.	14.7193	0.69294	0.0:0.0:0.0:1.0	.	241	P68032	ACTC_HUMAN	G	241;206	ENSP00000290378:S241G	ENSP00000290378:S241G	S	-	1	0	ACTC1	32871670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.919000	0.70005	2.126000	0.65437	0.533000	0.62120	AGC		0.512	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		C	35084378	T	C	35084378	3	2	69	1	0	0	0	0	1	0	0	0	195	1551	54	4	424	4	ACTC1	15	35084378	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10		35084378	67447014	49	3513											
MYO5A	4644	hgsc.bcm.edu	37	15	52606344	52606344	+	Silent	SNP	A	A	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr15:52606344A>G	ENST00000399231.3	-	40	5634	c.5391T>C	c.(5389-5391)tcT>tcC	p.S1797S	MYO5A_ENST00000358212.6_Silent_p.S1822S|MYO5A_ENST00000356338.6_Silent_p.S1770S|MYO5A_ENST00000553916.1_Silent_p.S1795S|MYO5A_ENST00000399233.2_Silent_p.S1794S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1797	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.S1797S(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGAACGACACAGAGACTCTTT	0.328																																																1	Substitution - coding silent(1)	ovary(1)	15											93	86	88					15																	52606344		1817	4077	5894	50393636	SO:0001819	synonymous_variant	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5391T>C	15.37:g.52606344A>G			50393636	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	CCDS42037.1																																																																																				0.328	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		G	52606344	A	G	52606344	2	3	69	1	0	0	0	0	0	0	0	1	10078	175	7	4		4	MYO5A	15	52606344	Silent	SNP	A	TCGA-13-0714-01A-01W-0370-10	17521966	52606344	49925048	50	3514											
ABCA3	21	hgsc.bcm.edu	37	16	2339472	2339472	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr16:2339472A>G	ENST00000301732.5	-	20	3363	c.2663T>C	c.(2662-2664)aTc>aCc	p.I888T	ABCA3_ENST00000382381.3_Missense_Mutation_p.I830T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	888					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.I888T(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CTCCTCCTCGATGAGGGCTCC	0.687																																																1	Substitution - Missense(1)	ovary(1)	16											30	28	29					16																	2339472		2195	4298	6493	2279473	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2663T>C	16.37:g.2339472A>G	ENSP00000301732:p.Ile888Thr		2279473	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.392982	0.42410	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.94330	-3.4	4.68	4.68	0.58851	.	0.230149	0.42682	D	0.000680	D	0.90403	0.6996	L	0.56769	1.78	0.80722	D	1	B;B;B	0.22346	0.009;0.068;0.004	B;B;B	0.20384	0.007;0.029;0.004	D	0.86744	0.1956	10	0.18710	T	0.47	.	13.1336	0.59397	1.0:0.0:0.0:0.0	.	888;892;888	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	T	888;892	ENSP00000301732:I888T	ENSP00000301732:I888T	I	-	2	0	ABCA3	2279473	1.000000	0.71417	0.032000	0.17829	0.012000	0.07955	8.388000	0.90170	1.963000	0.57068	0.459000	0.35465	ATC		0.687	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		G	2339472	A	G	2339472	3	3	69	1	0	0	0	0	1	0	0	0	33	333	12	4	2507	4	ABCA3	16	2339472	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10		2339472	88015281	51	3515											
XPO6	23214	hgsc.bcm.edu	37	16	28118939	28118939	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr16:28118939C>G	ENST00000304658.5	-	18	2901	c.2401G>C	c.(2401-2403)Ggg>Cgg	p.G801R	XPO6_ENST00000565698.1_Missense_Mutation_p.G787R	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	801					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.G801R(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTGGACTCCCCCGAGATATTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	16											95	96	95					16																	28118939		1868	4115	5983	28026440	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2401G>C	16.37:g.28118939C>G	ENSP00000302790:p.Gly801Arg		28026440	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536988	0.85812	.	.	ENSG00000169180	ENST00000304658	T	0.66099	-0.19	5.62	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.053492	0.85682	D	0.000000	T	0.66607	0.2806	L	0.59436	1.845	0.80722	D	1	P;D	0.53619	0.893;0.961	B;P	0.52758	0.383;0.708	T	0.63440	-0.6637	10	0.20519	T	0.43	-18.5048	13.7191	0.62717	0.1552:0.8448:0.0:0.0	.	801;801	B7ZM10;Q96QU8	.;XPO6_HUMAN	R	801	ENSP00000302790:G801R	ENSP00000302790:G801R	G	-	1	0	XPO6	28026440	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.735000	0.62051	1.361000	0.45981	0.655000	0.94253	GGG		0.488	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		G	28118939	C	G	28118939	3	3	69	1	0	0	0	0	1	0	0	0	17448	623	22	3	1004	3	XPO6	16	28118939	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	25779467	28118939	62235814	52	3516											
GSG2	83903	hgsc.bcm.edu	37	17	3628421	3628422	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr17:3628421_3628422insAA	ENST00000325418.4	+	1	1211_1212	c.1192_1193insAA	c.(1192-1194)gatfs	p.D398fs	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	398					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										AATTGTGACTGATGTGTCAGAG	0.475																																																0			17																																								3575171	SO:0001589	frameshift_variant	83903			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	Exception_encountered	17.37:g.3628421_3628422insAA	ENSP00000325290:p.Asp398fs		3575170	Q5U5K3|Q96MN1|Q9BXS7	Frame_Shift_Ins	INS	ENST00000325418.4	37	CCDS11036.1																																																																																				0.475	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		AA	3628422	-	AA	3628421	7	5	69	1	0	1	1	0	0	0	0	0	6822	1290	45	0	1194	0	GSG2	17	3628421	Frame_Shift_Ins	INS	-	TCGA-13-0714-01A-01W-0370-10		3628421	77566789	53	3517											
SLC16A13	201232	hgsc.bcm.edu	37	17	6941624	6941624	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr17:6941624A>T	ENST00000308027.6	+	3	805	c.497A>T	c.(496-498)tAc>tTc	p.Y166F		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	166						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.Y166F(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CTCAGCCACTACGCCTGGAGG	0.662																																																1	Substitution - Missense(1)	ovary(1)	17											49	53	52					17																	6941624		2203	4300	6503	6882348	SO:0001583	missense	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.497A>T	17.37:g.6941624A>T	ENSP00000309751:p.Tyr166Phe		6882348	A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	A	9.563	1.118932	0.20877	.	.	ENSG00000174327	ENST00000308027	T	0.29655	1.56	5.74	3.49	0.39957	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	L	0.35723	1.085	0.50467	D	0.999871	B	0.24768	0.111	B	0.33042	0.157	T	0.06267	-1.0836	10	0.06625	T	0.88	.	6.2037	0.20590	0.7786:0.0:0.0786:0.1428	.	166	Q7RTY0	MOT13_HUMAN	F	166	ENSP00000309751:Y166F	ENSP00000309751:Y166F	Y	+	2	0	SLC16A13	6882348	1.000000	0.71417	0.982000	0.44146	0.658000	0.38924	4.753000	0.62183	0.421000	0.25980	0.460000	0.39030	TAC		0.662	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			T	6941624	A	T	6941624	3	4	69	1	0	0	0	0	1	0	0	0	14409	391	14	5	507	5	SLC16A13	17	6941624	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10	3313203	6941624	74253586	54	3518											
TP53	7157	hgsc.bcm.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr17:7578550G>A	ENST00000269305.4	-	5	569	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000420246.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000574684.1_5'Flank	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	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)	GAGGGCAGGGGAGTACTGTAG	0.552		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"	73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(1)	17											44	44	44					17																	7578550		2203	4300	6503	7519275	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.380C>T	17.37:g.7578550G>A	ENSP00000269305:p.Ser127Phe		7519275	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	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338648	0.81911	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4	5.48	4.51	0.55191	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	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127F;ENSP00000352610:S127F;ENSP00000269305:S127F;ENSP00000398846:S127F;ENSP00000391127:S127F;ENSP00000391478:S127F;ENSP00000423862:S34F;ENSP00000424104:S127F;ENSP00000426252:S127F	ENSP00000269305:S127F	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578550	G	A	7578550	3	1	69	1	0	0	0	0	1	0	0	0	16381	1174	41	2	918	2	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	636926	7578550	73616660	55	3519											
SCN4A	6329	hgsc.bcm.edu	37	17	62034608	62034608	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr17:62034608C>T	ENST00000435607.1	-	13	2366	c.2290G>A	c.(2290-2292)Gag>Aag	p.E764K	SCN4A_ENST00000578147.1_Missense_Mutation_p.E764K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	764					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E764K(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACATGGTCTCGATCCACTCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											76	77	77					17																	62034608		2203	4300	6503	59388340	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2290G>A	17.37:g.62034608C>T	ENSP00000396320:p.Glu764Lys		59388340	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129851	0.94473	.	.	ENSG00000007314	ENST00000435607	D	0.97430	-4.38	3.91	3.91	0.45181	Ion transport (1);	0.103452	0.64402	D	0.000004	D	0.98422	0.9475	M	0.86864	2.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	D	0.99282	1.0896	10	0.87932	D	0	.	15.018	0.71600	0.0:1.0:0.0:0.0	.	764	P35499	SCN4A_HUMAN	K	764	ENSP00000396320:E764K	ENSP00000396320:E764K	E	-	1	0	SCN4A	59388340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.180000	0.69256	0.561000	0.74099	GAG		0.582	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62034608	C	T	62034608	3	4	69	1	0	0	0	0	1	0	0	0	13923	893	31	1	3268	1	SCN4A	17	62034608	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	54456058	62034608	19160602	56	3520											
ASXL3	80816	hgsc.bcm.edu	37	18	31324250	31324250	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr18:31324250A>T	ENST00000269197.5	+	12	4438	c.4438A>T	c.(4438-4440)Acg>Tcg	p.T1480S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1480S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCACAGCACCACGCTGACCTC	0.542											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	18											62	66	65					18																	31324250		2203	4300	6503	29578248	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4438A>T	18.37:g.31324250A>T	ENSP00000269197:p.Thr1480Ser	823	29578248	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336910	0.60963	.	.	ENSG00000141431	ENST00000269197	T	0.15834	2.39	6.06	6.06	0.98353	.	.	.	.	.	T	0.14141	0.0342	L	0.29908	0.895	0.38198	D	0.940095	P	0.42456	0.78	B	0.34931	0.192	T	0.03887	-1.0995	9	0.66056	D	0.02	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	1480	Q9C0F0	ASXL3_HUMAN	S	1480	ENSP00000269197:T1480S	ENSP00000269197:T1480S	T	+	1	0	ASXL3	29578248	0.955000	0.32602	0.997000	0.53966	0.996000	0.88848	3.123000	0.50453	2.315000	0.78130	0.533000	0.62120	ACG		0.542	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31324250	A	T	31324250	3	4	69	1	0	0	0	0	1	0	0	0	1068	159	6	5	4484	5	ASXL3	18	31324250	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10		31324250	46752998	57	3521											
STARD6	147323	hgsc.bcm.edu	37	18	51863579	51863583	+	Frame_Shift_Del	DEL	TAGTT	TAGTT	-	rs200318360		TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	TAGTT	TAGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr18:51863579_51863583delTAGTT	ENST00000581310.1	-	6	552_556	c.179_183delAACTA	c.(178-183)aaactafs	p.KL60fs	STARD6_ENST00000580990.2_5'UTR|STARD6_ENST00000307844.3_Frame_Shift_Del_p.KL60fs			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	60	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.K60fs*2(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGAAATCAGATAGTTTAGCTGGTGA	0.312																																																1	Deletion - Frameshift(1)	ovary(1)	18																																								50117581	SO:0001589	frameshift_variant	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"StAR-related lipid transfer (START) domain containing"	18066	protein-coding gene	gene with protein product		607051	"START domain containing 6"			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.179_183delAACTA	18.37:g.51863579_51863583delTAGTT	ENSP00000462349:p.Lys60fs		50117577		Frame_Shift_Del	DEL	ENST00000581310.1	37	CCDS11955.1																																																																																				0.312	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		-	51863583	TAGTT	-	51863579	7	5	69	1	0	1	0	1	0	0	0	0	15263	1393	49	0	494	0	STARD6	18	51863579	Frame_Shift_Del	DEL	TAGTT	TCGA-13-0714-01A-01W-0370-10	20539329	51863579	26213669	58	3522											
CASP14	23581	hgsc.bcm.edu	37	19	15166304	15166304	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr19:15166304T>A	ENST00000427043.3	+	6	892	c.584T>A	c.(583-585)tTc>tAc	p.F195Y	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.F195Y	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	195					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.F195Y(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GTGGATGTGTTCACGAAGAGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											110	94	100					19																	15166304		2203	4300	6503	15027304	SO:0001583	missense	23581				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.584T>A	19.37:g.15166304T>A	ENSP00000393417:p.Phe195Tyr		15027304	O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	t	16.05	3.014054	0.54468	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.03524	3.9;3.9	4.48	4.48	0.54585	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.961343	0.08635	N	0.916387	T	0.23572	0.0570	M	0.90082	3.085	0.34588	D	0.715224	D	0.69078	0.997	D	0.79108	0.992	T	0.05716	-1.0868	10	0.72032	D	0.01	.	10.4233	0.44363	0.0:0.0:0.0:1.0	.	195	P31944	CASPE_HUMAN	Y	195	ENSP00000393417:F195Y;ENSP00000221740:F195Y	ENSP00000221740:F195Y	F	+	2	0	CASP14	15027304	1.000000	0.71417	0.993000	0.49108	0.279000	0.26890	3.671000	0.54576	1.774000	0.52232	0.368000	0.22195	TTC		0.542	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		A	15166304	T	A	15166304	3	1	69	1	0	0	0	0	1	0	0	0	2670	1783	62	5	602	5	CASP14	19	15166304	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10		15166304	43962679	59	3523											
GSK3A	2931	hgsc.bcm.edu	37	19	42744212	42744212	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr19:42744212G>C	ENST00000222330.3	-	2	493	c.366C>G	c.(364-366)atC>atG	p.I122M	AC006486.1_ENST00000378108.1_5'Flank|GSK3A_ENST00000398249.4_Missense_Mutation_p.I40M|AC006486.9_ENST00000594664.1_Missense_Mutation_p.I35M	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.I122M(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CAATCACTTTGATGTCCGTGT	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											166	126	139					19																	42744212		2203	4300	6503	47436052	SO:0001583	missense	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.366C>G	19.37:g.42744212G>C	ENSP00000222330:p.Ile122Met		47436052	O14959	Missense_Mutation	SNP	ENST00000222330.3	37	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526748	0.44969	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.46063	1.99;0.88	5.22	5.22	0.72569	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	0.37812	0.1017	L	0.33792	1.035	0.51233	D	0.999912	B;B	0.23249	0.082;0.014	B;B	0.25987	0.065;0.038	T	0.19192	-1.0313	10	0.54805	T	0.06	-5.9144	17.9284	0.88990	0.0:0.0:1.0:0.0	.	122;40	P49840;A8MT37	GSK3A_HUMAN;.	M	122;40;67	ENSP00000222330:I122M;ENSP00000381301:I40M	ENSP00000222330:I122M	I	-	3	3	GSK3A	47436052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.502000	0.53332	2.622000	0.88805	0.555000	0.69702	ATC		0.567	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			C	42744212	G	C	42744212	3	2	69	1	0	0	0	0	1	0	0	0	6823	1280	45	3	1125	3	GSK3A	19	42744212	Missense_Mutation	SNP	G	TCGA-13-0714-01A-01W-0370-10	27577908	42744212	16384771	60	3524											
ANKRD5	63926	hgsc.bcm.edu	37	20	10030141	10030141	+	Missense_Mutation	SNP	A	A	T	rs146891340		TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr20:10030141A>T	ENST00000378380.3	+	6	1253	c.924A>T	c.(922-924)agA>agT	p.R308S	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R308S	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	308							calcium ion binding (GO:0005509)	p.R308S(1)									GAGCAGAGAGAATCGCTAATA	0.507																																																1	Substitution - Missense(1)	ovary(1)	20											81	89	87					20																	10030141		2203	4300	6503	9978141	SO:0001583	missense	63926			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.924A>T	20.37:g.10030141A>T	ENSP00000367631:p.Arg308Ser		9978141	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.545679	0.27652	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.68331	-0.32;-0.32	5.86	0.178	0.15058	Ankyrin repeat-containing domain (1);	0.216063	0.45361	D	0.000373	T	0.52289	0.1725	M	0.72894	2.215	0.26792	N	0.969382	B	0.32573	0.376	B	0.30943	0.122	T	0.30966	-0.9960	10	0.15066	T	0.55	-0.0841	1.9796	0.03423	0.309:0.2389:0.3353:0.1168	.	308	Q9NU02	ANKR5_HUMAN	S	308	ENSP00000367644:R308S;ENSP00000367631:R308S	ENSP00000367631:R308S	R	+	3	2	ANKRD5	9978141	0.000000	0.05858	0.492000	0.27490	0.344000	0.29017	-0.669000	0.05262	0.130000	0.18549	0.528000	0.53228	AGA		0.507	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		T	10030141	A	T	10030141	3	4	69	1	0	0	0	0	1	0	0	0	676	243	9	5	942	5	ANKRD5	20	10030141	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10		10030141	52995379	61	3525											
LBP	3929	hgsc.bcm.edu	37	20	36997702	36997702	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr20:36997702C>A	ENST00000217407.2	+	10	1206	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	349					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.L349M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGCTCCGCTCCTGAACTTCAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	20											129	127	128					20																	36997702		2203	4300	6503	36431116	SO:0001583	missense	3929				CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1045C>A	20.37:g.36997702C>A	ENSP00000217407:p.Leu349Met		36431116	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235566	0.22626	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.11277	2.79	5.54	1.11	0.20524	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.212960	0.32719	N	0.005737	T	0.22085	0.0532	M	0.74647	2.275	0.27946	N	0.937332	P	0.51791	0.948	P	0.62298	0.9	T	0.03818	-1.1001	10	0.52906	T	0.07	-7.2226	3.3818	0.07257	0.1366:0.5692:0.1327:0.1615	.	349	P18428	LBP_HUMAN	M	349	ENSP00000217407:L349M	ENSP00000217407:L349M	L	+	1	2	LBP	36431116	0.380000	0.25131	0.141000	0.22245	0.035000	0.12851	0.613000	0.24299	0.401000	0.25424	-0.136000	0.14681	CTG		0.537	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		A	36997702	C	A	36997702	3	1	69	1	0	0	0	0	1	0	0	0	8651	680	24	3	1083	3	LBP	20	36997702	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10	26967561	36997702	26027818	62	3526											
DSCAM	1826	hgsc.bcm.edu	37	21	41648079	41648079	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr21:41648079C>G	ENST00000400454.1	-	11	2778	c.2301G>C	c.(2299-2301)aaG>aaC	p.K767N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	767	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K767N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTTGCTGACCTTGCAGAGGT	0.473																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - Missense(1)	ovary(1)	21											80	85	84					21																	41648079		2060	4246	6306	40569949	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2301G>C	21.37:g.41648079C>G	ENSP00000383303:p.Lys767Asn		40569949	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760708	0.69763	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68765	-0.35;-0.35	5.78	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058737	0.64402	D	0.000002	T	0.64405	0.2595	L	0.38649	1.16	0.47123	D	0.999322	P	0.51147	0.942	P	0.50270	0.636	T	0.60596	-0.7232	10	0.30078	T	0.28	.	14.2557	0.66051	0.0:0.9291:0.0:0.0709	.	767	O60469	DSCAM_HUMAN	N	767;519	ENSP00000383303:K767N;ENSP00000385342:K519N	ENSP00000383303:K767N	K	-	3	2	DSCAM	40569949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.386000	0.44380	2.729000	0.93468	0.650000	0.86243	AAG		0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		G	41648079	C	G	41648079	3	3	69	1	0	0	0	0	1	0	0	0	4768	680	24	3	3829	3	DSCAM	21	41648079	Missense_Mutation	SNP	C	TCGA-13-0714-01A-01W-0370-10		41648079	6481816	63	3527											
MCM3AP	8888	hgsc.bcm.edu	37	21	47662800	47662800	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chr21:47662800T>C	ENST00000397708.1	-	26	5596	c.5342A>G	c.(5341-5343)aAc>aGc	p.N1781S	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.N1781S|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1781	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.N1781S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTCAAATCGTTTTTAAAAAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	21											93	86	89					21																	47662800		2203	4300	6503	46487228	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5342A>G	21.37:g.47662800T>C	ENSP00000380820:p.Asn1781Ser		46487228	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.338755	0.24253	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03301	3.98;3.98	5.84	4.5	0.54988	.	0.302964	0.40302	N	0.001132	T	0.02533	0.0077	N	0.17082	0.46	0.22489	N	0.999053	B;B	0.22276	0.067;0.004	B;B	0.16289	0.015;0.002	T	0.47142	-0.9140	10	0.18710	T	0.47	-25.5528	10.3404	0.43875	0.0:0.1318:0.0:0.8682	.	1781;276	O60318;B3KT88	MCM3A_HUMAN;.	S	1781;1781;276	ENSP00000380820:N1781S;ENSP00000291688:N1781S	ENSP00000291688:N1781S	N	-	2	0	MCM3AP	46487228	0.879000	0.30193	0.934000	0.37439	0.722000	0.41435	1.119000	0.31258	2.232000	0.73038	0.533000	0.62120	AAC		0.443	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		C	47662800	T	C	47662800	3	2	69	1	0	0	0	0	1	0	0	0	9388	1725	60	4	616	4	MCM3AP	21	47662800	Missense_Mutation	SNP	T	TCGA-13-0714-01A-01W-0370-10	6014721	47662800	467095	64	3528											
KIF4A	24137	hgsc.bcm.edu	37	X	69510633	69510633	+	Silent	SNP	A	A	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chrX:69510633A>T	ENST00000374403.3	+	3	295	c.213A>T	c.(211-213)ccA>ccT	p.P71P	KIF4A_ENST00000485406.1_3'UTR|PDZD11_ENST00000473667.1_5'Flank|KIF4A_ENST00000374388.3_Silent_p.P71P|PDZD11_ENST00000239666.4_5'Flank|PDZD11_ENST00000374454.1_5'Flank	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	71	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.P71P(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAGTAGCGCCACTCATAAAAG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	X											116	91	99					X																	69510633		2203	4300	6503	69427358	SO:0001819	synonymous_variant	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.213A>T	X.37:g.69510633A>T			69427358	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	CCDS14401.1																																																																																				0.408	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		T	69510633	A	T	69510633	2	4	69	1	0	0	0	0	0	0	0	1	8303	146	6	5		5	KIF4A	23	69510633	Silent	SNP	A	TCGA-13-0714-01A-01W-0370-10		69510633	85759927	65	3529											
GPR101	83550	hgsc.bcm.edu	37	X	136113068	136113068	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0714-01A-01W-0370-10	TCGA-13-0714-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b76c58bf-183c-4b31-bb4e-335e3163a8df	438d8440-2402-402f-94d8-eda4ef66c591	g.chrX:136113068A>T	ENST00000298110.1	-	1	765	c.766T>A	c.(766-768)Ttc>Atc	p.F256I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.F256I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCATCCTGGAACTCCTCCTTC	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											158	132	141					X																	136113068		2203	4300	6503	135940734	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.766T>A	X.37:g.136113068A>T	ENSP00000298110:p.Phe256Ile		135940734	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.443926	0.01089	.	.	ENSG00000165370	ENST00000298110	T	0.63255	-0.03	4.46	-2.34	0.06704	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39253	0.1071	N	0.22421	0.69	0.09310	N	1	B	0.20261	0.043	B	0.19666	0.026	T	0.20438	-1.0275	9	0.20519	T	0.43	-3.9407	4.3692	0.11239	0.337:0.3493:0.3137:0.0	.	256	Q96P66	GP101_HUMAN	I	256	ENSP00000298110:F256I	ENSP00000298110:F256I	F	-	1	0	GPR101	135940734	0.009000	0.17119	0.000000	0.03702	0.017000	0.09413	0.827000	0.27421	-0.401000	0.07644	-0.369000	0.07265	TTC		0.547	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			T	136113068	A	T	136113068	3	4	69	1	0	0	0	0	1	0	0	0	6622	43	2	5	763	5	GPR101	23	136113068	Missense_Mutation	SNP	A	TCGA-13-0714-01A-01W-0370-10	66602435	136113068	19157492	66	3530											
UBR4	23352	hgsc.bcm.edu	37	1	19518749	19518749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr1:19518749G>A	ENST00000375254.3	-	11	1354	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	UBR4_ENST00000375217.2_Nonsense_Mutation_p.R443*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.R443*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.R443*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	443					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R443*(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCTGACTCGGAGGGCAGCC	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	1											68	70	69					1																	19518749		2203	4300	6503	19391336	SO:0001587	stop_gained	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1327C>T	1.37:g.19518749G>A	ENSP00000364403:p.Arg443*		19391336	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	38	6.837197	0.97873	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	.	.	.	5.6	4.61	0.57282	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	14.3038	0.66373	0.0:0.0:0.7732:0.2268	.	.	.	.	X	443	.	ENSP00000364365:R443X	R	-	1	2	UBR4	19391336	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	6.148000	0.71788	2.630000	0.89119	0.591000	0.81541	CGA		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19518749	G	A	19518749	4	1	70	1	0	0	0	0	0	1	0	0	16904	1124	39	1	14608	1	UBR4	1	19518749	Nonsense_Mutation	SNP	G	TCGA-13-0717-01A-01W-0370-10		19518749	229731872	1	3531											
SIPA1L2	57568	hgsc.bcm.edu	37	1	232581296	232581296	+	Missense_Mutation	SNP	C	C	T	rs557448632		TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr1:232581296C>T	ENST00000366630.1	-	10	3690	c.3332G>A	c.(3331-3333)cGg>cAg	p.R1111Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1111Q|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R185Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1111					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R1111Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGGCAGCTTCCGGTCGAAGGA	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											35	40	38					1																	232581296		2014	4173	6187	230647919	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3332G>A	1.37:g.232581296C>T	ENSP00000355589:p.Arg1111Gln		230647919	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861376	0.51482	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.60548	0.18;0.18;0.18	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	L	0.54323	1.7	0.43936	D	0.996594	P;D	0.54601	0.944;0.967	B;P	0.47044	0.182;0.535	T	0.50617	-0.8807	10	0.15499	T	0.54	-23.0501	12.6564	0.56790	0.0:0.9244:0.0:0.0756	.	1111;185	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	Q	1111;1111;185	ENSP00000355589:R1111Q;ENSP00000262861:R1111Q;ENSP00000309102:R185Q	ENSP00000262861:R1111Q	R	-	2	0	SIPA1L2	230647919	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.593000	0.61034	2.560000	0.86352	0.655000	0.94253	CGG		0.612	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		T	232581296	C	T	232581296	3	4	70	1	0	0	0	0	1	0	0	0	14333	652	23	1	1888	1	SIPA1L2	1	232581296	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10	213062547	232581296	16669325	2	3532											
SLC8A1	6546	hgsc.bcm.edu	37	2	40392065	40392065	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr2:40392065delC	ENST00000403092.1	-	8	2131	c.2098delG	c.(2098-2100)gaafs	p.E700fs	SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.E700fs|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.E664fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.E664fs|SLC8A1_ENST00000406785.2_Frame_Shift_Del_p.E664fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.E664fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.E695fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.E664fs|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.E692fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.E695fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	700					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.E700fs*15(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGCCCCATTTCTGCAATGCGC	0.502																																																1	Deletion - Frameshift(1)	ovary(1)	2											187	179	181					2																	40392065		2203	4300	6503	40245569	SO:0001589	frameshift_variant	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2098delG	2.37:g.40392065delC	ENSP00000384763:p.Glu700fs		40245569	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Del	DEL	ENST00000403092.1	37	CCDS1806.1																																																																																				0.502	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		-	40392065	C	-	40392065	7	5	70	1	0	1	0	1	0	0	0	0	14709	922	32	0	839	0	SLC8A1	2	40392065	Frame_Shift_Del	DEL	C	TCGA-13-0717-01A-01W-0370-10		40392065	202807308	3	3533											
ST6GAL2	84620	hgsc.bcm.edu	37	2	107460328	107460328	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr2:107460328C>T	ENST00000409382.3	-	2	716	c.106G>A	c.(106-108)Gct>Act	p.A36T	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A36T|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A36T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	36					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.A36T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACAGGCTCAGCGGGGTTGCTG	0.577																																																1	Substitution - Missense(1)	ovary(1)	2											30	36	34					2																	107460328		2203	4300	6503	106826760	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.106G>A	2.37:g.107460328C>T	ENSP00000386942:p.Ala36Thr		106826760	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	3.157	-0.173044	0.06421	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.31769	2.49;2.49;1.48	5.74	2.92	0.33932	.	0.571582	0.20534	N	0.090458	T	0.19208	0.0461	L	0.38838	1.175	0.09310	N	1	B;B	0.32203	0.36;0.07	B;B	0.20184	0.028;0.006	T	0.11227	-1.0596	10	0.29301	T	0.29	-16.6718	8.8195	0.35016	0.2694:0.6604:0.0:0.0703	.	36;36	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	T	36	ENSP00000355273:A36T;ENSP00000386942:A36T;ENSP00000387332:A36T	ENSP00000355273:A36T	A	-	1	0	ST6GAL2	106826760	0.943000	0.32029	0.006000	0.13384	0.136000	0.21042	1.717000	0.37991	0.738000	0.32606	-0.182000	0.12963	GCT		0.577	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107460328	C	T	107460328	3	4	70	1	0	0	0	0	1	0	0	0	15224	768	27	1	1590	1	ST6GAL2	2	107460328	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10	67068263	107460328	135739045	4	3534											
TTN	7273	hgsc.bcm.edu	37	2	179469858	179469858	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr2:179469858T>C	ENST00000591111.1	-	230	49347	c.49123A>G	c.(49123-49125)Ata>Gta	p.I16375V	TTN_ENST00000342992.6_Missense_Mutation_p.I15448V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I9143V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9076V|TTN_ENST00000460472.2_Missense_Mutation_p.I8951V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I18016V			Q8WZ42	TITIN_HUMAN	titin	16375	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I15448V(1)|p.I8951V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTGGTTATCTGAAGTGCA	0.468																																																2	Substitution - Missense(2)	ovary(2)	2											150	138	142					2																	179469858		1879	4102	5981	179178103	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49123A>G	2.37:g.179469858T>C	ENSP00000465570:p.Ile16375Val		179178103	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	10.55	1.381863	0.24944	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49864	0.1582	N	0.16862	0.45	0.33978	D	0.647679	P;P;P;P	0.35551	0.509;0.509;0.509;0.509	B;B;B;B	0.35470	0.203;0.203;0.203;0.203	T	0.66060	-0.6017	9	0.87932	D	0	.	16.1099	0.81255	0.0:0.0:0.0:1.0	.	8951;9076;9143;16375	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	15448;8951;9143;9076;8951	ENSP00000343764:I15448V;ENSP00000434586:I8951V;ENSP00000340554:I9143V;ENSP00000352154:I9076V	ENSP00000340554:I9143V	I	-	1	0	TTN	179178103	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.005000	0.40864	2.215000	0.71742	0.460000	0.39030	ATA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179469858	T	C	179469858	3	2	70	1	0	0	0	0	1	0	0	0	16735	1435	50	4	53979	4	TTN	2	179469858	Missense_Mutation	SNP	T	TCGA-13-0717-01A-01W-0370-10	72009530	179469858	63729515	5	3535											
SPEG	10290	hgsc.bcm.edu	37	2	220315873	220315873	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr2:220315873C>A	ENST00000312358.7	+	5	2261	c.2129C>A	c.(2128-2130)tCc>tAc	p.S710Y	SPEG_ENST00000396698.1_Missense_Mutation_p.S606Y|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	710					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S710Y(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCGGATGACTCCTACGTGTCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	2											112	113	113					2																	220315873		1970	4146	6116	220024117	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2129C>A	2.37:g.220315873C>A	ENSP00000311684:p.Ser710Tyr		220024117	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580912	0.86748	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698	T;T	0.67865	-0.29;-0.01	5.43	5.43	0.79202	.	0.000000	0.41194	D	0.000935	T	0.73418	0.3584	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76594	-0.2902	10	0.62326	D	0.03	.	18.835	0.92159	0.0:1.0:0.0:0.0	.	710	Q15772	SPEG_HUMAN	Y	710;710;606	ENSP00000311684:S710Y;ENSP00000379926:S606Y	ENSP00000265327:S710Y	S	+	2	0	SPEG	220024117	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.453000	0.80700	2.556000	0.86216	0.655000	0.94253	TCC		0.602	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220315873	C	A	220315873	3	1	70	1	0	0	0	0	1	0	0	0	15038	855	30	3	2147	3	SPEG	2	220315873	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10	40846015	220315873	22883500	6	3536											
CNTN6	27255	hgsc.bcm.edu	37	3	1424790	1424790	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr3:1424790A>T	ENST00000446702.2	+	18	2958	c.2331A>T	c.(2329-2331)aaA>aaT	p.K777N	CNTN6_ENST00000350110.2_Missense_Mutation_p.K777N|CNTN6_ENST00000539053.1_Missense_Mutation_p.K705N			Q9UQ52	CNTN6_HUMAN	contactin 6	777	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K777N(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTGAAGTCAAAGTGGGTGTGT	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											142	130	134					3																	1424790		2203	4300	6503	1399790	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2331A>T	3.37:g.1424790A>T	ENSP00000407822:p.Lys777Asn		1399790	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982972	0.74474	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.55052	0.54;0.54;0.54	6.08	2.14	0.27477	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.76772	0.4034	H	0.95187	3.635	0.53005	D	0.999963	D	0.76494	0.999	D	0.78314	0.991	T	0.76854	-0.2805	10	0.87932	D	0	.	8.6282	0.33904	0.6816:0.0:0.3184:0.0	.	777	Q9UQ52	CNTN6_HUMAN	N	777;705;777	ENSP00000407822:K777N;ENSP00000442791:K705N;ENSP00000341882:K777N	ENSP00000341882:K777N	K	+	3	2	CNTN6	1399790	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.080000	0.41586	0.113000	0.18004	0.533000	0.62120	AAA		0.443	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		T	1424790	A	T	1424790	3	4	70	1	0	0	0	0	1	0	0	0	3645	69	3	5	2397	5	CNTN6	3	1424790	Missense_Mutation	SNP	A	TCGA-13-0717-01A-01W-0370-10		1424790	196597640	7	3537											
KLF15	28999	hgsc.bcm.edu	37	3	126071521	126071521	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr3:126071521G>C	ENST00000296233.3	-	2	475	c.245C>G	c.(244-246)tCc>tGc	p.S82C	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	82					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.S82C(1)		endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CGTGGCCTGGGACAATAGGAA	0.687																																																1	Substitution - Missense(1)	ovary(1)	3											10	10	10					3																	126071521		2192	4286	6478	127554211	SO:0001583	missense	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.245C>G	3.37:g.126071521G>C	ENSP00000296233:p.Ser82Cys		127554211		Missense_Mutation	SNP	ENST00000296233.3	37	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895995	0.52121	.	.	ENSG00000163884	ENST00000296233	T	0.25749	1.78	4.3	3.42	0.39159	.	0.050406	0.85682	D	0.000000	T	0.44767	0.1309	M	0.61703	1.905	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.40683	-0.9550	10	0.87932	D	0	.	10.3835	0.44125	0.1011:0.0:0.8989:0.0	.	82	Q9UIH9	KLF15_HUMAN	C	82	ENSP00000296233:S82C	ENSP00000296233:S82C	S	-	2	0	KLF15	127554211	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	9.807000	0.99171	1.099000	0.41499	0.591000	0.81541	TCC		0.687	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		C	126071521	G	C	126071521	3	2	70	1	0	0	0	0	1	0	0	0	8343	1174	41	3	1013	3	KLF15	3	126071521	Missense_Mutation	SNP	G	TCGA-13-0717-01A-01W-0370-10	124646731	126071521	71950909	8	3538											
HPS3	84343	hgsc.bcm.edu	37	3	148868392	148868392	+	Silent	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr3:148868392C>T	ENST00000296051.2	+	6	1310	c.1170C>T	c.(1168-1170)aaC>aaT	p.N390N	HPS3_ENST00000460120.1_Silent_p.N225N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	390					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.N390N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCAGTAACAACCTGCAGTGTT	0.552									Hermansky-Pudlak syndrome																																							1	Substitution - coding silent(1)	ovary(1)	3											111	98	103					3																	148868392		2203	4300	6503	150351082	SO:0001819	synonymous_variant	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1170C>T	3.37:g.148868392C>T			150351082	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	CCDS3140.1																																																																																				0.552	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		T	148868392	C	T	148868392	2	4	70	1	0	0	0	0	0	0	0	1	7340	506	18	2		2	HPS3	3	148868392	Silent	SNP	C	TCGA-13-0717-01A-01W-0370-10	22796871	148868392	49154038	9	3539											
SHISA3	152573	hgsc.bcm.edu	37	4	42403147	42403147	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr4:42403147G>C	ENST00000319234.4	+	2	614	c.396G>C	c.(394-396)caG>caC	p.Q132H		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	132					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q132H(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCTCGCAGCAGCCAATCCGCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	4											189	202	197					4																	42403147		2203	4300	6503	42097904	SO:0001583	missense	152573			BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"Shisa homologs"	25159	protein-coding gene	gene with protein product			"shisa homolog 3 (Xenopus laevis)"				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.396G>C	4.37:g.42403147G>C	ENSP00000326445:p.Gln132His		42097904	A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364826	0.61513	.	.	ENSG00000178343	ENST00000319234	T	0.45668	0.89	4.94	2.24	0.28232	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.61703	1.905	0.54753	D	0.99998	D	0.65815	0.995	D	0.68353	0.957	T	0.52457	-0.8573	10	0.62326	D	0.03	-11.5341	8.5436	0.33408	0.309:0.0:0.691:0.0	.	132	A0PJX4	SHSA3_HUMAN	H	132	ENSP00000326445:Q132H	ENSP00000326445:Q132H	Q	+	3	2	SHISA3	42097904	1.000000	0.71417	0.996000	0.52242	0.857000	0.48899	1.805000	0.38883	0.267000	0.21916	0.655000	0.94253	CAG		0.577	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		C	42403147	G	C	42403147	3	2	70	1	0	0	0	0	1	0	0	0	14284	962	34	3	402	3	SHISA3	4	42403147	Missense_Mutation	SNP	G	TCGA-13-0717-01A-01W-0370-10		42403147	148751129	10	3540											
DCHS2	54798	hgsc.bcm.edu	37	4	155155778	155155778	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr4:155155778C>G	ENST00000357232.4	-	25	8660	c.8661G>C	c.(8659-8661)ttG>ttC	p.L2887F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2887					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L2887F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAGTGGAGACAAGGCAGGAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	4											139	126	130					4																	155155778		2203	4300	6503	155375228	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8661G>C	4.37:g.155155778C>G	ENSP00000349768:p.Leu2887Phe		155375228	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	8.179	0.793336	0.16327	.	.	ENSG00000197410	ENST00000357232	T	0.55234	0.53	5.93	2.34	0.29019	.	0.913541	0.09478	N	0.796781	T	0.34483	0.0899	L	0.36672	1.1	0.45452	D	0.998429	B	0.31519	0.327	B	0.21360	0.034	T	0.20638	-1.0269	10	0.33141	T	0.24	.	2.335	0.04245	0.127:0.487:0.1115:0.2745	.	2887	Q6V1P9	PCD23_HUMAN	F	2887	ENSP00000349768:L2887F	ENSP00000349768:L2887F	L	-	3	2	DCHS2	155375228	0.128000	0.22383	0.006000	0.13384	0.203000	0.24098	0.678000	0.25277	0.415000	0.25817	0.655000	0.94253	TTG		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155155778	C	G	155155778	3	3	70	1	0	0	0	0	1	0	0	0	4288	477	17	3	93	3	DCHS2	4	155155778	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10	112752631	155155778	35998498	11	3541											
NMUR2	56923	hgsc.bcm.edu	37	5	151784061	151784061	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr5:151784061G>A	ENST00000255262.3	-	1	779	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	205					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.T205M(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTTGATGACCGTACAGGTGGC	0.542																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	5											173	166	169					5																	151784061		2203	4300	6503	151764254	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.614C>T	5.37:g.151784061G>A	ENSP00000255262:p.Thr205Met		151764254	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083741	0.08533	.	.	ENSG00000132911	ENST00000255262	T	0.38077	1.16	5.44	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.370788	0.28198	N	0.016226	T	0.28134	0.0694	L	0.45698	1.435	0.09310	N	1	P	0.40398	0.716	B	0.35655	0.207	T	0.10337	-1.0634	10	0.45353	T	0.12	0.2937	9.1507	0.36962	0.0759:0.0:0.767:0.1571	.	205	Q9GZQ4	NMUR2_HUMAN	M	205	ENSP00000255262:T205M	ENSP00000255262:T205M	T	-	2	0	NMUR2	151764254	0.998000	0.40836	0.001000	0.08648	0.057000	0.15508	4.073000	0.57570	0.622000	0.30249	-0.237000	0.12165	ACG		0.542	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		A	151784061	G	A	151784061	3	1	70	1	0	0	0	0	1	0	0	0	10507	1145	40	1	649	1	NMUR2	5	151784061	Missense_Mutation	SNP	G	TCGA-13-0717-01A-01W-0370-10		151784061	29131199	12	3542											
ABCF1	23	hgsc.bcm.edu	37	6	30553726	30553726	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:30553726G>C	ENST00000326195.8	+	17	1783	c.1671G>C	c.(1669-1671)aaG>aaC	p.K557N	ABCF1_ENST00000376545.3_Missense_Mutation_p.K519N|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	557					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.K557N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGAGAAAAAGCTGAAGGAGC	0.552																																																1	Substitution - Missense(1)	ovary(1)	6											26	22	23					6																	30553726		1511	2709	4220	30661705	SO:0001583	missense	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1671G>C	6.37:g.30553726G>C	ENSP00000313603:p.Lys557Asn		30661705	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906686	0.52333	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	T;T	0.56444	0.46;0.92	4.79	3.9	0.45041	.	0.269175	0.40469	N	0.001094	T	0.34308	0.0893	L	0.56769	1.78	0.80722	D	1	B;B;B	0.30236	0.274;0.274;0.274	B;B;B	0.34301	0.179;0.115;0.115	T	0.38866	-0.9641	10	0.59425	D	0.04	-22.084	8.9325	0.35680	0.1764:0.0:0.8236:0.0	.	519;557;557	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	N	557;519	ENSP00000313603:K557N;ENSP00000365728:K519N	ENSP00000313603:K557N	K	+	3	2	ABCF1	30661705	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.705000	0.37867	1.207000	0.43291	0.484000	0.47621	AAG		0.552	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			C	30553726	G	C	30553726	3	2	70	1	0	0	0	0	1	0	0	0	65	962	34	3	1737	3	ABCF1	6	30553726	Missense_Mutation	SNP	G	TCGA-13-0717-01A-01W-0370-10		30553726	140561341	13	3543											
PRSS35	167681	hgsc.bcm.edu	37	6	84234349	84234349	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:84234349G>A	ENST00000369700.3	+	2	1366	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	PRSS35_ENST00000536636.1_Missense_Mutation_p.A397T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	397	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.A397T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCTAAAATACGCCCAGATTTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											63	46	52					6																	84234349		2203	4300	6503	84291068	SO:0001583	missense	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1189G>A	6.37:g.84234349G>A	ENSP00000358714:p.Ala397Thr		84291068	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852822	0.91355	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.50548	0.74;0.74	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69840	-0.5036	10	0.87932	D	0	-26.7098	20.2946	0.98546	0.0:0.0:1.0:0.0	.	397	Q8N3Z0	PRS35_HUMAN	T	397	ENSP00000440870:A397T;ENSP00000358714:A397T	ENSP00000358714:A397T	A	+	1	0	PRSS35	84291068	1.000000	0.71417	0.986000	0.45419	0.953000	0.61014	7.636000	0.83301	2.804000	0.96469	0.462000	0.41574	GCC		0.507	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		A	84234349	G	A	84234349	3	1	70	1	0	0	0	0	1	0	0	0	12627	1087	38	1	1191	1	PRSS35	6	84234349	Missense_Mutation	SNP	G	TCGA-13-0717-01A-01W-0370-10	53680623	84234349	86880718	14	3544											
ASCC3	10973	hgsc.bcm.edu	37	6	100965891	100965891	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:100965891T>C	ENST00000369162.2	-	38	6247	c.5903A>G	c.(5902-5904)gAa>gGa	p.E1968G		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1968	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.E1968G(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATGATGGTTTTCTATGTTTGG	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											83	84	84					6																	100965891		2203	4300	6503	101072612	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5903A>G	6.37:g.100965891T>C	ENSP00000358159:p.Glu1968Gly		101072612	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320908	0.81469	.	.	ENSG00000112249	ENST00000369162	T	0.58358	0.34	4.83	4.83	0.62350	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	L	0.53249	1.67	0.80722	D	1	P	0.42296	0.775	P	0.51297	0.665	T	0.40961	-0.9535	10	0.23891	T	0.37	.	14.6995	0.69147	0.0:0.0:0.0:1.0	.	1968	Q8N3C0	HELC1_HUMAN	G	1968	ENSP00000358159:E1968G	ENSP00000358159:E1968G	E	-	2	0	ASCC3	101072612	1.000000	0.71417	0.938000	0.37757	0.940000	0.58332	7.905000	0.87416	1.947000	0.56498	0.377000	0.23210	GAA		0.348	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		C	100965891	T	C	100965891	3	2	70	1	0	0	0	0	1	0	0	0	1033	1783	62	4	725	4	ASCC3	6	100965891	Missense_Mutation	SNP	T	TCGA-13-0717-01A-01W-0370-10	16731542	100965891	70149176	15	3545											
IL20RA	53832	hgsc.bcm.edu	37	6	137323042	137323042	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:137323042C>T	ENST00000316649.5	-	7	1550	c.1315G>A	c.(1315-1317)Gca>Aca	p.A439T	RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000367748.1_Missense_Mutation_p.A328T|IL20RA_ENST00000541547.1_Missense_Mutation_p.A390T|IL20RA_ENST00000468393.1_5'Flank	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	439					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.A439T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CCCAAGACTGCCAACGCTGCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											75	64	68					6																	137323042		2203	4300	6503	137364735	SO:0001583	missense	53832			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1315G>A	6.37:g.137323042C>T	ENSP00000314976:p.Ala439Thr		137364735	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251222	0.39797	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.62788	0.27;1.73;0.0	5.76	3.05	0.35203	.	2.391960	0.01134	N	0.006042	T	0.30854	0.0778	L	0.31926	0.97	0.09310	N	1	B;B	0.25563	0.129;0.051	B;B	0.23419	0.046;0.02	T	0.10382	-1.0632	10	0.33940	T	0.23	-3.5837	7.5199	0.27622	0.0:0.6655:0.0:0.3345	.	328;439	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	T	439;328;390	ENSP00000314976:A439T;ENSP00000356722:A328T;ENSP00000437843:A390T	ENSP00000314976:A439T	A	-	1	0	IL20RA	137364735	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.248000	0.18198	0.371000	0.24564	0.655000	0.94253	GCA		0.582	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		T	137323042	C	T	137323042	3	4	70	1	0	0	0	0	1	0	0	0	7668	739	26	2	350	2	IL20RA	6	137323042	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10	36357151	137323042	33792025	16	3546											
ARID1B	57492	hgsc.bcm.edu	37	6	157527996	157527997	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:157527996_157527997insT	ENST00000350026.5	+	19	5683_5684	c.5682_5683insT	c.(5683-5685)cagfs	p.Q1895fs	ARID1B_ENST00000346085.5_Frame_Shift_Ins_p.Q1908fs|ARID1B_ENST00000275248.4_Frame_Shift_Ins_p.Q1890fs|ARID1B_ENST00000367148.1_Frame_Shift_Ins_p.Q1948fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1895					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q1890fs*36(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCTTTGGTATCCAGCAAGCCAA	0.584																																																1	Insertion - Frameshift(1)	ovary(1)	6																																								157569689	SO:0001589	frameshift_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	Exception_encountered	6.37:g.157527996_157527997insT	ENSP00000055163:p.Gln1895fs		157569688	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Ins	INS	ENST00000350026.5	37	CCDS5251.2																																																																																				0.584	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		T	157527997	-	T	157527996	7	5	70	1	0	1	1	0	0	0	0	0	914	845	30	0	5799	0	ARID1B	6	157527996	Frame_Shift_Ins	INS	-	TCGA-13-0717-01A-01W-0370-10	20204954	157527996	13587071	17	3547	9	2									
ARID1B	57492	hgsc.bcm.edu	37	6	157528001	157528001	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:157528001A>C	ENST00000350026.5	+	19	5688	c.5687A>C	c.(5686-5688)cAa>cCa	p.Q1896P	ARID1B_ENST00000346085.5_Missense_Mutation_p.Q1909P|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1891P|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1949P	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1896					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q1891P(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGTATCCAGCAAGCCAAAAGT	0.592																																																1	Substitution - Missense(1)	ovary(1)	6											96	93	94					6																	157528001		2203	4296	6499	157569693	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5687A>C	6.37:g.157528001A>C	ENSP00000055163:p.Gln1896Pro		157569693	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	7.886	0.731295	0.15507	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02032	4.8;4.8;4.8;4.8;4.49	5.08	5.08	0.68730	.	0.305820	0.35677	N	0.003047	T	0.00580	0.0019	N	0.16098	0.37	0.42671	D	0.993519	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.37731	-0.9693	10	0.05436	T	0.98	.	14.858	0.70355	1.0:0.0:0.0:0.0	.	1896;1909;1891	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	P	1909;1896;1949;1891;1418	ENSP00000344546:Q1909P;ENSP00000055163:Q1896P;ENSP00000356116:Q1949P;ENSP00000275248:Q1891P;ENSP00000412835:Q1418P	ENSP00000275248:Q1891P	Q	+	2	0	ARID1B	157569693	1.000000	0.71417	0.485000	0.27403	0.810000	0.45777	5.916000	0.69981	1.903000	0.55091	0.460000	0.39030	CAA		0.592	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		C	157528001	A	C	157528001	3	2	70	1	0	0	0	0	1	0	0	0	914	130	5	5	5804	5	ARID1B	6	157528001	Missense_Mutation	SNP	A	TCGA-13-0717-01A-01W-0370-10	5	157528001	13587066	18	3548	9	2									
TXNDC3	51314	hgsc.bcm.edu	37	7	37907457	37907457	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr7:37907457G>A	ENST00000199447.4	+	11	1147	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E259K	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	259					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.E259K(1)									ACCTGAGGTCGAAGCCCAGGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	7											98	81	87					7																	37907457		2203	4300	6503	37873982	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.775G>A	7.37:g.37907457G>A	ENSP00000199447:p.Glu259Lys		37873982	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851308	0.17034	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.36157	1.27;1.27	3.73	-1.99	0.07457	.	1.254880	0.05903	N	0.630249	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.22103	-1.0226	10	0.06365	T	0.9	0.2498	4.7353	0.12984	0.289:0.3117:0.3994:0.0	.	259	Q8N427	TXND3_HUMAN	K	259	ENSP00000199447:E259K;ENSP00000397063:E259K	ENSP00000199447:E259K	E	+	1	0	TXNDC3	37873982	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.237000	0.08990	-0.633000	0.05545	-1.565000	0.00878	GAA		0.448	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		A	37907457	G	A	37907457	3	1	70	1	0	0	0	0	1	0	0	0	16798	1059	37	1	809	1	TXNDC3	7	37907457	Missense_Mutation	SNP	G	TCGA-13-0717-01A-01W-0370-10		37907457	121231206	19	3549											
EGFR	1956	hgsc.bcm.edu	37	7	55259458	55259458	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr7:55259458C>T	ENST00000275493.2	+	21	2693	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.A794V|EGFR_ENST00000454757.2_Missense_Mutation_p.A786V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A839V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGCGACCTGGCAGCCAGGAAC	0.532		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	1	Substitution - Missense(1)	ovary(1)	7											117	102	107					7																	55259458		2203	4300	6503	55226952	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2516C>T	7.37:g.55259458C>T	ENSP00000275493:p.Ala839Val		55226952	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708595	0.96821	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.63580	-0.05;-0.05;-0.05	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.972;0.999	D	0.91724	0.5391	10	0.87932	D	0	.	18.6604	0.91470	0.0:1.0:0.0:0.0	.	794;839	Q504U8;P00533	.;EGFR_HUMAN	V	794;709;839;786	ENSP00000415559:A794V;ENSP00000275493:A839V;ENSP00000395243:A786V	ENSP00000275493:A839V	A	+	2	0	EGFR	55226952	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	7.692000	0.84203	2.751000	0.94390	0.650000	0.86243	GCA		0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55259458	C	T	55259458	3	4	70	1	0	0	0	0	1	0	0	0	4967	710	25	2	2862	2	EGFR	7	55259458	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10	17352001	55259458	103879205	20	3550											
SLC26A5	375611	hgsc.bcm.edu	37	7	103018944	103018944	+	Silent	SNP	G	G	A	rs577037869		TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr7:103018944G>A	ENST00000306312.3	-	17	1995	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393727.1_Silent_p.Y578Y|SLC26A5_ENST00000393730.1_Silent_p.Y546Y|SLC26A5_ENST00000354356.4_Silent_p.Y11Y|SLC26A5_ENST00000393729.1_Silent_p.Y541Y|SLC26A5_ENST00000432958.2_Silent_p.Y546Y|SLC26A5_ENST00000393723.1_Silent_p.Y546Y|SLC26A5_ENST00000339444.6_Silent_p.Y578Y	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	578	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.Y578Y(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTTCCTTAGCGTACTTCCGCA	0.453													G|||	1	0.000199681	0	0	5008	,	,		19434	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	7											275	217	236					7																	103018944		2203	4300	6503	102806180	SO:0001819	synonymous_variant	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1734C>T	7.37:g.103018944G>A			102806180	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	CCDS5733.1																																																																																				0.453	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		A	103018944	G	A	103018944	2	1	70	1	0	0	0	0	0	0	0	1	14523	1140	40	1		1	SLC26A5	7	103018944	Silent	SNP	G	TCGA-13-0717-01A-01W-0370-10	47759486	103018944	56119719	21	3551											
NOS3	4846	hgsc.bcm.edu	37	7	150699340	150699340	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr7:150699340T>C	ENST00000484524.1	+	13	1700	c.1700T>C	c.(1699-1701)gTg>gCg	p.V567A	NOS3_ENST00000297494.3_Missense_Mutation_p.V567A|NOS3_ENST00000461406.1_Missense_Mutation_p.V361A|NOS3_ENST00000467517.1_Missense_Mutation_p.V567A	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V567A(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACGCTGGTGCTGGTGGTA	0.587																																																1	Substitution - Missense(1)	ovary(1)	7											56	46	50					7																	150699340		2202	4295	6497	150330273	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1700T>C	7.37:g.150699340T>C	ENSP00000420215:p.Val567Ala		150330273	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481722	0.84747	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.5	4.5	0.54988	Flavodoxin/nitric oxide synthase (2);	0.000000	0.53938	D	0.000049	T	0.80670	0.4667	L	0.51914	1.62	0.50039	D	0.999842	D;D;D;D;D	0.69078	0.977;0.987;0.993;0.993;0.997	D;D;D;D;D	0.76575	0.929;0.963;0.973;0.963;0.988	T	0.78645	-0.2123	10	0.33141	T	0.24	-16.7725	12.0839	0.53686	0.0:0.0:0.0:1.0	.	567;567;567;361;567	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	A	567;361;567;567	ENSP00000297494:V567A;ENSP00000417143:V361A;ENSP00000420215:V567A;ENSP00000420551:V567A	ENSP00000297494:V567A	V	+	2	0	NOS3	150330273	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	7.825000	0.86693	2.014000	0.59158	0.459000	0.35465	GTG		0.587	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		C	150699340	T	C	150699340	3	2	70	1	0	0	0	0	1	0	0	0	10544	1696	59	4	1750	4	NOS3	7	150699340	Missense_Mutation	SNP	T	TCGA-13-0717-01A-01W-0370-10	47680396	150699340	8439323	22	3552											
FLJ43860	389690	hgsc.bcm.edu	37	8	142476593	142476593	+	RNA	SNP	G	G	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr8:142476593G>T	ENST00000430863.1	-	0	2473					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.T798N(1)									GGCGTGCAGGGTCTTTTCCTT	0.637																																																1	Substitution - Missense(1)	ovary(1)	8											76	88	84					8																	142476593		2144	4234	6378	142545775			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142476593G>T			142545775		Missense_Mutation	SNP	ENST00000430863.1	37																																																																																					0.637	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		T	142476593	G	T	142476593	1	4	70	0	1	0	0	0	0	0	0	0	5930	1261	44	3		3	FLJ43860	8	142476593	RNA	SNP	G	TCGA-13-0717-01A-01W-0370-10		142476593	3887429	23	3553											
PTCH1	5727	hgsc.bcm.edu	37	9	98239936	98239936	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr9:98239936G>C	ENST00000331920.6	-	10	1695	c.1396C>G	c.(1396-1398)Cag>Gag	p.Q466E	PTCH1_ENST00000375274.2_Missense_Mutation_p.Q465E|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000430669.2_Missense_Mutation_p.Q400E|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q315E|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q315E|PTCH1_ENST00000421141.1_Missense_Mutation_p.Q315E|PTCH1_ENST00000437951.1_Missense_Mutation_p.Q400E	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	466	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.Q466E(2)|p.Q465E(1)|p.Q466*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGGCACCCTGGGACTTGGAG	0.567																																																4	Substitution - Missense(3)|Substitution - Nonsense(1)	ovary(3)|skin(1)	9											42	42	42					9																	98239936		2203	4300	6503	97279757	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1396C>G	9.37:g.98239936G>C	ENSP00000332353:p.Gln466Glu		97279757	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036451	0.93630	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77	5.06	5.06	0.68205	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97751	0.9262	M	0.82323	2.585	0.80722	D	1	D;D;D	0.71674	0.998;0.986;0.997	D;P;D	0.71414	0.954;0.878;0.973	D	0.98333	1.0534	10	0.72032	D	0.01	-21.6948	18.6256	0.91336	0.0:0.0:1.0:0.0	.	400;465;466	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	E	466;400;315;315;400;315;465	ENSP00000332353:Q466E;ENSP00000389744:Q400E;ENSP00000399981:Q315E;ENSP00000396135:Q315E;ENSP00000410287:Q400E;ENSP00000414823:Q315E;ENSP00000364423:Q465E	ENSP00000332353:Q466E	Q	-	1	0	PTCH1	97279757	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.619000	0.88677	0.655000	0.94253	CAG		0.567	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		C	98239936	G	C	98239936	3	2	70	1	0	0	0	0	1	0	0	0	12733	1357	47	3	3003	3	PTCH1	9	98239936	Missense_Mutation	SNP	G	TCGA-13-0717-01A-01W-0370-10		98239936	42973495	24	3554											
BAT2L1	84726	hgsc.bcm.edu	37	9	134358766	134358766	+	Silent	SNP	A	A	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr9:134358766A>T	ENST00000357304.4	+	22	5449	c.5394A>T	c.(5392-5394)ccA>ccT	p.P1798P	SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Silent_p.P1104P|PRRC2B_ENST00000458550.1_Silent_p.P1104P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1798							poly(A) RNA binding (GO:0044822)	p.P1798P(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCAGCTTGCCACCTGGTTCTG	0.498																																																1	Substitution - coding silent(1)	ovary(1)	9											136	128	131					9																	134358766		1943	4171	6114	133348587	SO:0001819	synonymous_variant	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5394A>T	9.37:g.134358766A>T			133348587	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	A	1.777	-0.482985	0.04383	.	.	ENSG00000130723	ENST00000451855	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.46560	0.1399	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59558	-0.7432	4	.	.	.	-16.9936	9.5875	0.39526	0.6874:0.059:0.1608:0.0929	.	.	.	.	S	531	.	.	T	+	1	0	PRRC2B	133348587	0.000000	0.05858	0.215000	0.23724	0.198000	0.23893	-2.435000	0.01020	-2.526000	0.00494	-1.044000	0.02363	ACC		0.498	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	134358766	A	T	134358766	2	4	70	1	0	0	0	0	0	0	0	1	1320	146	6	5		5	BAT2L1	9	134358766	Silent	SNP	A	TCGA-13-0717-01A-01W-0370-10	36118830	134358766	6854665	25	3555											
PI4K2A	55361	hgsc.bcm.edu	37	10	99416699	99416699	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr10:99416699T>C	ENST00000370631.3	+	4	947	c.890T>C	c.(889-891)tTg>tCg	p.L297S	PI4K2A_ENST00000555577.1_Missense_Mutation_p.L267S|PI4K2A_ENST00000370649.3_Missense_Mutation_p.L267S	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	297	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)	p.L297S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTTGAGCGGTTGGTGGTGCTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	10											87	81	83					10																	99416699		2203	4300	6503	99406689	SO:0001583	missense	55361			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.890T>C	10.37:g.99416699T>C	ENSP00000359665:p.Leu297Ser		99406689	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.572110	0.65765	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.78816	-1.21;-1.21;-1.21	5.35	5.35	0.76521	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.987	D	0.94304	0.7539	10	0.87932	D	0	-10.2998	15.372	0.74573	0.0:0.0:0.0:1.0	.	267;297	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	S	267;297;267	ENSP00000452243:L267S;ENSP00000359665:L297S;ENSP00000359683:L267S	ENSP00000359665:L297S	L	+	2	0	PI4K2A;RP11-548K23.11	99406689	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	8.040000	0.89188	2.044000	0.60594	0.477000	0.44152	TTG		0.552	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		C	99416699	T	C	99416699	3	2	70	1	0	0	0	0	1	0	0	0	11871	1821	63	4	904	4	PI4K2A	10	99416699	Missense_Mutation	SNP	T	TCGA-13-0717-01A-01W-0370-10		99416699	36118048	26	3556											
OR9G4	283189	hgsc.bcm.edu	37	11	56510545	56510545	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr11:56510545C>T	ENST00000302957.3	-	1	742	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G248E(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTTGTGTCTTCCTGAAGCTGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											152	126	135					11																	56510545		2201	4296	6497	56267121	SO:0001583	missense	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.743G>A	11.37:g.56510545C>T	ENSP00000307515:p.Gly248Glu		56267121	Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236955	0.58886	.	.	ENSG00000172457	ENST00000302957	T	0.00287	8.29	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38720	N	0.001588	T	0.00998	0.0033	M	0.91510	3.215	0.43841	D	0.996421	D	0.89917	1.0	D	0.97110	1.0	T	0.61831	-0.6982	10	0.87932	D	0	-14.5238	17.2062	0.86918	0.0:1.0:0.0:0.0	.	248	Q8NGQ1	OR9G4_HUMAN	E	248	ENSP00000307515:G248E	ENSP00000307515:G248E	G	-	2	0	OR9G4	56267121	0.185000	0.23213	1.000000	0.80357	0.717000	0.41224	2.268000	0.43338	2.636000	0.89361	0.643000	0.83706	GGA		0.473	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		T	56510545	C	T	56510545	3	4	70	1	0	0	0	0	1	0	0	0	11251	855	30	2	243	2	OR9G4	11	56510545	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10		56510545	78495971	27	3557											
ARHGAP32	9743	hgsc.bcm.edu	37	11	128855902	128855902	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr11:128855902A>C	ENST00000310343.9	-	14	1479	c.1480T>G	c.(1480-1482)Tac>Gac	p.Y494D	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.Y420D|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Y145D|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Y145D	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	494	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.Y145D(1)|p.Y494D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GCTGACCTGTAGTGTGGTGGG	0.443																																																2	Substitution - Missense(2)	ovary(2)	11											85	76	79					11																	128855902		2201	4297	6498	128361112	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1480T>G	11.37:g.128855902A>C	ENSP00000310561:p.Tyr494Asp		128361112	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784349	0.90282	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.85	5.85	0.93711	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	H	0.98849	4.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.81309	-0.0991	10	0.87932	D	0	.	16.2271	0.82306	1.0:0.0:0.0:0.0	.	428;494;312	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	D	494;145;420;428;145;204	ENSP00000310561:Y494D;ENSP00000376425:Y145D;ENSP00000432468:Y420D;ENSP00000432862:Y145D	ENSP00000310561:Y494D	Y	-	1	0	ARHGAP32	128361112	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.962000	0.93254	2.234000	0.73211	0.460000	0.39030	TAC		0.443	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		C	128855902	A	C	128855902	3	2	70	1	0	0	0	0	1	0	0	0	881	420	15	5	4819	5	ARHGAP32	11	128855902	Missense_Mutation	SNP	A	TCGA-13-0717-01A-01W-0370-10	72345357	128855902	6150614	28	3558											
CHD4	1108	hgsc.bcm.edu	37	12	6710554	6710554	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr12:6710554C>A	ENST00000357008.2	-	6	863	c.700G>T	c.(700-702)Gta>Tta	p.V234L	CHD4_ENST00000544040.1_Missense_Mutation_p.V227L|CHD4_ENST00000544484.1_Missense_Mutation_p.V231L|CHD4_ENST00000309577.6_Missense_Mutation_p.V234L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	234	Poly-Ala.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.V234L(1)		central_nervous_system(2)	2						ACCACAGCTACCGCTGCTGCT	0.582																																					Colon(32;586 792 4568 16848 45314)											1	Substitution - Missense(1)	ovary(1)	12											85	92	90					12																	6710554		2203	4300	6503	6580815	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.700G>T	12.37:g.6710554C>A	ENSP00000349508:p.Val234Leu		6580815	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013513	0.54468	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90004	-2.59;-2.6;-2.6;-2.6;0.85	5.87	5.87	0.94306	.	0.225066	0.37809	N	0.001925	D	0.87609	0.6220	L	0.53249	1.67	0.50813	D	0.999898	B;B;B	0.32101	0.341;0.349;0.356	B;B;B	0.33454	0.085;0.079;0.164	D	0.83927	0.0304	10	0.23302	T	0.38	-0.6394	20.2084	0.98285	0.0:1.0:0.0:0.0	.	234;234;227	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	231;227;234;234;208;234	ENSP00000440392:V231L;ENSP00000440542:V227L;ENSP00000312419:V234L;ENSP00000349508:V234L;ENSP00000437506:V234L	ENSP00000312419:V234L	V	-	1	0	CHD4	6580815	.	.	0.981000	0.43875	0.826000	0.46750	.	.	2.774000	0.95407	0.650000	0.86243	GTA		0.582	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6710554	C	A	6710554	3	1	70	1	0	0	0	0	1	0	0	0	3327	507	18	3	5178	3	CHD4	12	6710554	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10		6710554	127141341	29	3559											
DIP2B	57609	hgsc.bcm.edu	37	12	51097921	51097921	+	Splice_Site	SNP	A	A	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr12:51097921A>T	ENST00000301180.5	+	20	2359		c.e20-1			NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTGTCTCTTAGGTAATTCCA	0.363																																																1	Unknown(1)	ovary(1)	12											125	119	121					12																	51097921		2203	4300	6503	49384188	SO:0001630	splice_region_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2326-1A>T	12.37:g.51097921A>T			49384188	Q6B011|Q8N1L5|Q8NB38	Splice_Site	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004284	0.54254	.	.	ENSG00000066084	ENST00000301180	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0991	0.72258	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIP2B	49384188	1.000000	0.71417	0.886000	0.34754	0.489000	0.33432	8.991000	0.93514	2.216000	0.71823	0.533000	0.62120	.		0.363	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	Intron	T	51097921	A	T	51097921	5	4	70	1	0	0	0	0	0	0	1	0	4528	434	15	5	2402	5	DIP2B	12	51097921	Splice_Site	SNP	A	TCGA-13-0717-01A-01W-0370-10	44387367	51097921	82753974	30	3560											
EP400	57634	hgsc.bcm.edu	37	12	132502845	132502845	+	Missense_Mutation	SNP	C	C	T	rs201961439		TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr12:132502845C>T	ENST00000333577.4	+	22	4418	c.4309C>T	c.(4309-4311)Cgg>Tgg	p.R1437W	EP400_ENST00000330386.6_Missense_Mutation_p.R1401W|EP400_ENST00000389562.2_Missense_Mutation_p.R1400W|EP400_ENST00000389561.2_Missense_Mutation_p.R1401W|EP400_ENST00000332482.4_Missense_Mutation_p.R1364W			Q96L91	EP400_HUMAN	E1A binding protein p400	1437					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1400W(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AAAGATACCGCGGAAACTCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	12						C	TRP/ARG	0,4406		0,0,2203	56	57	57		4201	5.4	0.5	12		57	3,8597	3.0+/-9.4	0,3,4297	yes	missense	EP400	NM_015409.4	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1401/3124	132502845	3,13003	2203	4300	6503	131068798	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4309C>T	12.37:g.132502845C>T	ENSP00000333602:p.Arg1437Trp		131068798	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	8.092	0.774832	0.16051	0.0	3.49E-4	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91740	-2.9;-2.89;-2.89;-2.88;-2.78	5.43	5.43	0.79202	.	0.119075	0.56097	D	0.000024	D	0.92941	0.7754	M	0.68952	2.095	0.34631	D	0.719658	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.51833	0.681;0.681;0.681	D	0.95971	0.8970	10	0.87932	D	0	.	12.3901	0.55355	0.2838:0.7162:0.0:0.0	.	1401;1401;1400	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	W	1437;1401;1400;1364;1401;1401;1401	ENSP00000333602:R1437W;ENSP00000374212:R1401W;ENSP00000374213:R1400W;ENSP00000331737:R1364W;ENSP00000330620:R1401W	ENSP00000330620:R1401W	R	+	1	2	EP400	131068798	1.000000	0.71417	0.541000	0.28102	0.007000	0.05969	4.908000	0.63307	2.545000	0.85829	0.655000	0.94253	CGG		0.517	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132502845	C	T	132502845	3	4	70	1	0	0	0	0	1	0	0	0	5149	759	27	1	4276	1	EP400	12	132502845	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10	81404924	132502845	1349050	31	3561											
CCNA1	8900	hgsc.bcm.edu	37	13	37015329	37015329	+	Silent	SNP	T	T	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr13:37015329T>A	ENST00000255465.4	+	7	1437	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	CCNA1_ENST00000449823.1_Silent_p.A347A|CCNA1_ENST00000418263.1_Silent_p.A390A|CCNA1_ENST00000440264.1_Silent_p.A347A			P78396	CCNA1_HUMAN	cyclin A1	391	Poly-Ala.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.A391A(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTGCAGCAGCTTTTTGCCTGG	0.398																																																2	Substitution - coding silent(2)	ovary(2)	13											151	132	139					13																	37015329		2203	4300	6503	35913329	SO:0001819	synonymous_variant	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1173T>A	13.37:g.37015329T>A			35913329	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	CCDS9357.1																																																																																				0.398	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		A	37015329	T	A	37015329	2	1	70	1	0	0	0	0	0	0	0	1	2909	1596	56	5		5	CCNA1	13	37015329	Silent	SNP	T	TCGA-13-0717-01A-01W-0370-10		37015329	78154549	32	3562											
SLC12A6	9990	hgsc.bcm.edu	37	15	34532906	34532906	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr15:34532906C>A	ENST00000354181.3	-	19	2884	c.2392G>T	c.(2392-2394)Ggg>Tgg	p.G798W	SLC12A6_ENST00000458406.2_Missense_Mutation_p.G739W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.G798W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.G798W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.G739W|SLC12A6_ENST00000451844.2_Missense_Mutation_p.G610W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.G747W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.G783W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.G789W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.G610W			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	798					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.G747W(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGGAAGTTCCCCACGATGACA	0.468																																																1	Substitution - Missense(1)	ovary(1)	15											125	110	115					15																	34532906		2201	4298	6499	32320198	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2392G>T	15.37:g.34532906C>A	ENSP00000346112:p.Gly798Trp		32320198	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714426	0.89112	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.997	D	0.99560	1.0968	10	0.87932	D	0	.	17.1908	0.86879	0.0:1.0:0.0:0.0	.	783;798;747;610	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	W	747;783;789;739;739;610	ENSP00000290209:G747W;ENSP00000380819:G783W;ENSP00000380814:G739W;ENSP00000387725:G739W;ENSP00000390199:G610W	ENSP00000290209:G747W	G	-	1	0	SLC12A6	32320198	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.651000	0.83577	2.580000	0.87095	0.591000	0.81541	GGG		0.468	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		A	34532906	C	A	34532906	3	1	70	1	0	0	0	0	1	0	0	0	14390	623	22	3	1092	3	SLC12A6	15	34532906	Missense_Mutation	SNP	C	TCGA-13-0717-01A-01W-0370-10		34532906	67998486	33	3563											
TBX1	6899	hgsc.bcm.edu	37	22	19752518	19752518	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr22:19752518T>C	ENST00000329705.7	+	6	851	c.722T>C	c.(721-723)tTc>tCc	p.F241S	TBX1_ENST00000332710.4_Missense_Mutation_p.F241S|TBX1_ENST00000359500.3_Missense_Mutation_p.F241S	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	241					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)	p.F241S(1)		breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CAGCCCCGCTTCCACGTGGTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	22											97	94	95					22																	19752518		2203	4300	6503	18132518	SO:0001583	missense	6899			AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"T-boxes"	11592	protein-coding gene	gene with protein product		602054	"velocardiofacial syndrome"	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.722T>C	22.37:g.19752518T>C	ENSP00000331176:p.Phe241Ser		18132518	C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615311	0.87359	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.90069	-2.61;-2.61;-2.61	4.18	4.18	0.49190	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	M	0.92219	3.285	0.80722	D	1	D;D;P	0.89917	1.0;0.992;0.922	D;D;P	0.76071	0.987;0.939;0.761	D	0.96116	0.9081	10	0.87932	D	0	.	13.0464	0.58928	0.0:0.0:0.0:1.0	.	241;241;241	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	S	241	ENSP00000331791:F241S;ENSP00000331176:F241S;ENSP00000352483:F241S	ENSP00000331176:F241S	F	+	2	0	TBX1	18132518	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.754000	0.85163	1.765000	0.52091	0.402000	0.26972	TTC		0.542	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		C	19752518	T	C	19752518	3	2	70	1	0	0	0	0	1	0	0	0	15650	1783	62	4	740	4	TBX1	22	19752518	Missense_Mutation	SNP	T	TCGA-13-0717-01A-01W-0370-10		19752518	31552048	34	3564											
PRDM2	7799	hgsc.bcm.edu	37	1	14106984	14106984	+	Silent	SNP	C	C	T	rs200576369	byFrequency	TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr1:14106984C>T	ENST00000235372.7	+	8	3550	c.2694C>T	c.(2692-2694)ggC>ggT	p.G898G	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.G898G|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.G697G|PRDM2_ENST00000343137.4_Silent_p.G697G|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	898					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G898G(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AATATAATGGCATCGATTTAC	0.483													C|||	4	0.000798722	0	0.0058	5008	,	,		19794	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1											76	73	74					1																	14106984		2203	4300	6503	13979571	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2694C>T	1.37:g.14106984C>T			13979571	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.483	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		T	14106984	C	T	14106984	2	4	71	1	0	0	0	0	0	0	0	1	12461	697	25	2		2	PRDM2	1	14106984	Silent	SNP	C	TCGA-13-0720-01A-01W-0370-10		14106984	235143637	1	3565											
DDOST	1650	hgsc.bcm.edu	37	1	20981953	20981953	+	Silent	SNP	G	G	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr1:20981953G>A	ENST00000375048.3	-	5	687	c.582C>T	c.(580-582)ccC>ccT	p.P194P	DDOST_ENST00000602624.2_Silent_p.P177P|DDOST_ENST00000415136.2_Silent_p.P157P	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	194					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.P194P(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAAAGAGGATGGGATTTAGAG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	1											99	97	98					1																	20981953		2203	4300	6503	20854540	SO:0001819	synonymous_variant	1650			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"oligosaccharyltransferase subunit 48"	602202	"dolichyl-diphosphooligosaccharide-protein glycosyltransferase", "dolichyl-diphosphooligosaccharide--protein glycosyltransferase"			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.582C>T	1.37:g.20981953G>A			20854540	B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Silent	SNP	ENST00000375048.3	37	CCDS212.1																																																																																				0.502	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		A	20981953	G	A	20981953	2	1	71	1	0	0	0	0	0	0	0	1	4335	1335	47	2		2	DDOST	1	20981953	Silent	SNP	G	TCGA-13-0720-01A-01W-0370-10	6874969	20981953	228268668	2	3566											
GNL2	29889	hgsc.bcm.edu	37	1	38061393	38061393	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr1:38061393T>G	ENST00000373062.3	-	1	129	c.31A>C	c.(31-33)Acc>Ccc	p.T11P		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	11					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.T11P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GGGTTGATGGTGCTCCGTCCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											143	112	122					1																	38061393		2203	4300	6503	37833980	SO:0001583	missense	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.31A>C	1.37:g.38061393T>G	ENSP00000362153:p.Thr11Pro		37833980	Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580140	0.65992	.	.	ENSG00000134697	ENST00000373062	T	0.23754	1.89	5.01	1.06	0.20224	.	0.328929	0.36665	N	0.002479	T	0.23249	0.0562	L	0.48642	1.525	0.52099	D	0.999945	P;P	0.42248	0.774;0.774	B;B	0.44044	0.439;0.439	T	0.02015	-1.1229	10	0.40728	T	0.16	-4.9878	8.0294	0.30457	0.2964:0.0:0.1013:0.6022	.	11;11	Q5T0F3;Q13823	.;NOG2_HUMAN	P	11	ENSP00000362153:T11P	ENSP00000362153:T11P	T	-	1	0	GNL2	37833980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.193000	0.32162	0.365000	0.24400	0.533000	0.62120	ACC		0.582	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		G	38061393	T	G	38061393	3	3	71	1	0	0	0	0	1	0	0	0	6536	1696	59	5	2228	5	GNL2	1	38061393	Missense_Mutation	SNP	T	TCGA-13-0720-01A-01W-0370-10	17079440	38061393	211189228	3	3567											
CCDC18	343099	hgsc.bcm.edu	37	1	93680443	93680443	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr1:93680443G>A	ENST00000343253.7	+	12	2138	c.1636G>A	c.(1636-1638)Gct>Act	p.A546T	CCDC18_ENST00000557479.1_Missense_Mutation_p.A665T|CCDC18_ENST00000401026.3_Missense_Mutation_p.A547T|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.A346T			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	546								p.A665T(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGTTAACATGGCTCACAGAAC	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											51	49	50					1																	93680443		1844	4098	5942	93453031	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1636G>A	1.37:g.93680443G>A	ENSP00000343377:p.Ala546Thr		93453031	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.508447|2.508447	0.44660|0.44660	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.17691|.	2.26;2.26;2.26;2.26;2.26|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.196285|.	0.42548|.	D|.	0.000694|.	T|.	0.49949|.	0.1587|.	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;P|.	0.45715|.	0.461;0.865|.	B;B|.	0.39503|.	0.225;0.301|.	T|.	0.48811|.	-0.9002|.	10|.	0.31617|.	T|.	0.26|.	.|.	13.0106|13.0106	0.58729|0.58729	0.0777:0.0:0.9223:0.0|0.0777:0.0:0.9223:0.0	.|.	546;665|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	T|X	546;547;665;346;266|599	ENSP00000343377:A546T;ENSP00000383808:A547T;ENSP00000451099:A665T;ENSP00000344380:A346T;ENSP00000391151:A266T|.	ENSP00000344380:A346T|.	A|W	+|+	1|3	0|0	CCDC18|CCDC18	93453031|93453031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.057000|3.057000	0.49931|0.49931	2.373000|2.373000	0.80994|0.80994	0.655000|0.655000	0.94253|0.94253	GCT|TGG		0.383	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		A	93680443	G	A	93680443	3	1	71	1	0	0	0	0	1	0	0	0	2794	1203	42	2	2039	2	CCDC18	1	93680443	Missense_Mutation	SNP	G	TCGA-13-0720-01A-01W-0370-10	55619050	93680443	155570178	4	3568											
COL11A1	1301	hgsc.bcm.edu	37	1	103488342	103488342	+	Missense_Mutation	SNP	A	A	C	rs141817156	byFrequency	TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr1:103488342A>C	ENST00000370096.3	-	8	1513	c.1201T>G	c.(1201-1203)Ttt>Gtt	p.F401V	COL11A1_ENST00000353414.4_Missense_Mutation_p.F362V|COL11A1_ENST00000358392.2_Missense_Mutation_p.F413V|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	401	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.F413V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGACCAAATTCTTCATTA	0.348																																																1	Substitution - Missense(1)	ovary(1)	1											97	97	97					1																	103488342		2203	4299	6502	103260930	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1201T>G	1.37:g.103488342A>C	ENSP00000359114:p.Phe401Val		103260930	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.148208	0.37923	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.87029	-2.14;-0.53;-2.2;-0.51	5.41	5.41	0.78517	.	0.198918	0.44483	D	0.000457	T	0.76118	0.3943	L	0.57536	1.79	0.42869	D	0.994131	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.14578	0.006;0.011;0.003	T	0.72991	-0.4123	10	0.17369	T	0.5	.	14.0148	0.64517	1.0:0.0:0.0:0.0	.	362;413;401	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	V	401;413;362;413	ENSP00000359114:F401V;ENSP00000351163:F413V;ENSP00000302551:F362V;ENSP00000408640:F413V	ENSP00000302551:F362V	F	-	1	0	COL11A1	103260930	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.814000	0.55643	2.038000	0.60285	0.523000	0.50628	TTT		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		C	103488342	A	C	103488342	3	2	71	1	0	0	0	0	1	0	0	0	3667	101	4	5	4459	5	COL11A1	1	103488342	Missense_Mutation	SNP	A	TCGA-13-0720-01A-01W-0370-10	9807899	103488342	145762279	5	3569											
FCRL4	83417	hgsc.bcm.edu	37	1	157559005	157559005	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr1:157559005A>C	ENST00000271532.1	-	3	431	c.296T>G	c.(295-297)cTc>cGc	p.L99R	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	99					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L99R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGAAGAAAAGAGCAAGCGCAC	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											63	68	66					1																	157559005		2203	4300	6503	155825629	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.296T>G	1.37:g.157559005A>C	ENSP00000271532:p.Leu99Arg		155825629	Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	A	4.814	0.151394	0.09185	.	.	ENSG00000163518	ENST00000271532	T	0.18657	2.2	4.2	-8.41	0.00961	Immunoglobulin subtype (1);	4.121640	0.01047	N	0.004417	T	0.03739	0.0106	L	0.47716	1.5	0.09310	N	1	B	0.19200	0.034	B	0.19666	0.026	T	0.32268	-0.9913	10	0.16420	T	0.52	.	1.5384	0.02550	0.1751:0.115:0.3146:0.3954	.	99	Q96PJ5	FCRL4_HUMAN	R	99	ENSP00000271532:L99R	ENSP00000271532:L99R	L	-	2	0	FCRL4	155825629	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-2.190000	0.01247	-1.651000	0.01504	-0.410000	0.06199	CTC		0.493	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		C	157559005	A	C	157559005	3	2	71	1	0	0	0	0	1	0	0	0	5797	304	11	5	1291	5	FCRL4	1	157559005	Missense_Mutation	SNP	A	TCGA-13-0720-01A-01W-0370-10	54070663	157559005	91691616	6	3570											
ATF6	22926	hgsc.bcm.edu	37	1	161821600	161821600	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr1:161821600C>G	ENST00000367942.3	+	11	1475	c.1408C>G	c.(1408-1410)Cta>Gta	p.L470V	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	470	Interaction with THBS4.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.L470V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TTGTCAGCCCCTAATTAACAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											228	207	214					1																	161821600		2203	4300	6503	160088224	SO:0001583	missense	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1408C>G	1.37:g.161821600C>G	ENSP00000356919:p.Leu470Val		160088224	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627182	0.28978	.	.	ENSG00000118217	ENST00000367942	T	0.14640	2.49	5.73	3.71	0.42584	.	0.329429	0.33419	N	0.004923	T	0.03915	0.0110	L	0.43152	1.355	0.36556	D	0.872161	B;B	0.30406	0.141;0.278	B;B	0.26614	0.071;0.034	T	0.29792	-1.0000	9	0.16896	T	0.51	-12.2887	8.2534	0.31739	0.1671:0.7459:0.0:0.087	.	470;471	P18850;Q59H30	ATF6A_HUMAN;.	V	470	ENSP00000356919:L470V	ENSP00000356919:L470V	L	+	1	2	ATF6	160088224	0.036000	0.19791	0.991000	0.47740	0.955000	0.61496	0.953000	0.29162	2.708000	0.92522	0.563000	0.77884	CTA		0.403	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		G	161821600	C	G	161821600	3	3	71	1	0	0	0	0	1	0	0	0	1084	680	24	3	1450	3	ATF6	1	161821600	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10	4262595	161821600	87429021	7	3571											
MIA3	375056	hgsc.bcm.edu	37	1	222802459	222802459	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr1:222802459T>C	ENST00000344922.5	+	4	1922	c.1897T>C	c.(1897-1899)Tcc>Ccc	p.S633P	MIA3_ENST00000344441.6_Missense_Mutation_p.S633P|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	633					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S633P(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACCTAGATTCTCCTCTCCAGA	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											109	108	109					1																	222802459		1866	4111	5977	220869082	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1897T>C	1.37:g.222802459T>C	ENSP00000340900:p.Ser633Pro		220869082	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.415569|4.415569	0.83449|0.83449	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|T;T	.|0.10668	.|2.85;2.85	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	.|.	.|.	.|.	.|.	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.61218|0.61218	1.895|1.895	0.09310|0.09310	N|N	1|1	.|D;B	.|0.61697	.|0.99;0.049	.|P;B	.|0.58266	.|0.836;0.026	T|T	0.04467|0.04467	-1.0949|-1.0949	5|9	.|0.87932	.|D	.|0	.|.	14.3157|14.3157	0.66450|0.66450	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|633;633	.|Q5JRA6-2;Q5JRA6	.|.;MIA3_HUMAN	P|P	215|633	.|ENSP00000340900:S633P;ENSP00000340587:S633P	.|ENSP00000325973:S633P	L|S	+|+	2|1	0|0	MIA3|MIA3	220869082|220869082	0.045000|0.045000	0.20229|0.20229	0.071000|0.071000	0.20095|0.20095	0.762000|0.762000	0.43233|0.43233	1.300000|1.300000	0.33436|0.33436	1.843000|1.843000	0.53566|0.53566	0.254000|0.254000	0.18369|0.18369	CTC|TCC		0.453	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		C	222802459	T	C	222802459	3	2	71	1	0	0	0	0	1	0	0	0	9565	1551	54	4	1911	4	MIA3	1	222802459	Missense_Mutation	SNP	T	TCGA-13-0720-01A-01W-0370-10	60980859	222802459	26448162	8	3572											
DTNB	1838	hgsc.bcm.edu	37	2	25678315	25678315	+	Silent	SNP	C	C	A	rs576226520		TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr2:25678315C>A	ENST00000406818.3	-	11	1377	c.1128G>T	c.(1126-1128)gcG>gcT	p.A376A	DTNB_ENST00000404103.3_Silent_p.A376A|DTNB_ENST00000496972.2_Silent_p.A319A|DTNB_ENST00000407186.1_Intron|DTNB_ENST00000545439.1_Silent_p.A172A|DTNB_ENST00000405222.1_Intron|DTNB_ENST00000407661.3_Silent_p.A376A|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000288642.8_Silent_p.A376A	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	376						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A376A(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCTATCAGCGCATGCTCAT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	2											52	53	52					2																	25678315		2088	4229	6317	25531819	SO:0001819	synonymous_variant	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1128G>T	2.37:g.25678315C>A			25531819	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	CCDS46237.1																																																																																				0.552	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		A	25678315	C	A	25678315	2	1	71	1	0	0	0	0	0	0	0	1	4789	755	27	3		3	DTNB	2	25678315	Silent	SNP	C	TCGA-13-0720-01A-01W-0370-10		25678315	217521058	9	3573											
TRIM54	57159	hgsc.bcm.edu	37	2	27521534	27521534	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr2:27521534C>T	ENST00000380075.2	+	2	608	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	TRIM54_ENST00000296098.4_Missense_Mutation_p.H90Y	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	90					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.H74Y(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGACAGACACGGTGTCTA	0.577																																																1	Substitution - Missense(1)	ovary(1)	2											91	72	78					2																	27521534		2203	4300	6503	27375038	SO:0001583	missense	57159			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.268C>T	2.37:g.27521534C>T	ENSP00000369415:p.His90Tyr		27375038	A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857334	0.71834	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.40476	1.22;1.03	5.34	5.34	0.76211	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	M	0.82323	2.585	0.80722	D	1	B;B	0.25809	0.054;0.135	B;B	0.36335	0.021;0.222	T	0.59521	-0.7439	10	0.66056	D	0.02	-16.8942	16.528	0.84336	0.0:1.0:0.0:0.0	.	90;90	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	Y	90	ENSP00000369415:H90Y;ENSP00000296098:H90Y	ENSP00000296098:H90Y	H	+	1	0	TRIM54	27375038	1.000000	0.71417	0.972000	0.41901	0.883000	0.51084	7.757000	0.85209	2.498000	0.84270	0.511000	0.50034	CAC		0.577	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		T	27521534	C	T	27521534	3	4	71	1	0	0	0	0	1	0	0	0	16528	478	17	2	274	2	TRIM54	2	27521534	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10	1843219	27521534	215677839	10	3574											
AFTPH	54812	hgsc.bcm.edu	37	2	64778885	64778885	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr2:64778885A>G	ENST00000422803.1	+	2	591	c.277A>G	c.(277-279)Act>Gct	p.T93A	AFTPH_ENST00000409933.1_Missense_Mutation_p.T93A|AFTPH_ENST00000238855.7_Missense_Mutation_p.T93A|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238856.4_Missense_Mutation_p.T93A			Q6ULP2	AFTIN_HUMAN	aftiphilin	93					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.T93A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TAAGGACATCACTGCTGAACT	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											58	56	57					2																	64778885		2203	4299	6502	64632389	SO:0001583	missense	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.277A>G	2.37:g.64778885A>G	ENSP00000397726:p.Thr93Ala		64632389	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	A	7.203	0.593894	0.13875	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.63	4.47	0.54385	.	0.270600	0.32231	N	0.006397	T	0.17577	0.0422	L	0.44542	1.39	0.29730	N	0.837932	B;B;B;B	0.25850	0.005;0.005;0.136;0.136	B;B;B;B	0.24394	0.007;0.007;0.053;0.053	T	0.10337	-1.0634	10	0.26408	T	0.33	-2.2162	10.5873	0.45290	0.9269:0.0:0.0731:0.0	.	93;93;93;93	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	A	93	ENSP00000238856:T93A;ENSP00000397726:T93A;ENSP00000238855:T93A;ENSP00000387071:T93A	ENSP00000238855:T93A	T	+	1	0	AFTPH	64632389	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.564000	0.36375	1.073000	0.40885	-0.290000	0.09829	ACT		0.348	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		G	64778885	A	G	64778885	3	3	71	1	0	0	0	0	1	0	0	0	364	159	6	4	279	4	AFTPH	2	64778885	Missense_Mutation	SNP	A	TCGA-13-0720-01A-01W-0370-10	37257351	64778885	178420488	11	3575											
TMEM131	23505	hgsc.bcm.edu	37	2	98413916	98413916	+	Silent	SNP	G	G	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr2:98413916G>A	ENST00000186436.5	-	26	3010	c.2782C>T	c.(2782-2784)Cta>Tta	p.L928L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	928						integral component of membrane (GO:0016021)		p.L815L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTTAAAATTAGGTTTAAAATT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	2											92	91	91					2																	98413916		1799	4058	5857	97780348	SO:0001819	synonymous_variant	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2782C>T	2.37:g.98413916G>A			97780348		Silent	SNP	ENST00000186436.5	37	CCDS46368.1																																																																																				0.378	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		A	98413916	G	A	98413916	2	1	71	1	0	0	0	0	0	0	0	1	16044	991	35	2		2	TMEM131	2	98413916	Silent	SNP	G	TCGA-13-0720-01A-01W-0370-10	33635031	98413916	144785457	12	3576											
LRP1B	53353	hgsc.bcm.edu	37	2	141460057	141460057	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr2:141460057T>C	ENST00000389484.3	-	38	7060	c.6089A>G	c.(6088-6090)gAg>gGg	p.E2030G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2030					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E2030G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACAACCTTCTCTGAGCCATC	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											109	100	103					2																	141460057		2203	4300	6503	141176527	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6089A>G	2.37:g.141460057T>C	ENSP00000374135:p.Glu2030Gly		141176527	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839029	0.71373	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96136	-3.92	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.399340	0.23624	U	0.046216	D	0.92325	0.7565	N	0.21508	0.67	0.42882	D	0.994172	P	0.47484	0.896	P	0.46510	0.519	D	0.91406	0.5147	10	0.25751	T	0.34	.	15.2922	0.73875	0.0:0.0:0.0:1.0	.	2030	Q9NZR2	LRP1B_HUMAN	G	2030;1968	ENSP00000374135:E2030G	ENSP00000374135:E2030G	E	-	2	0	LRP1B	141176527	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.929000	0.87595	2.065000	0.61736	0.455000	0.32223	GAG		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141460057	T	C	141460057	3	2	71	1	0	0	0	0	1	0	0	0	8955	1551	54	4	7926	4	LRP1B	2	141460057	Missense_Mutation	SNP	T	TCGA-13-0720-01A-01W-0370-10	43046141	141460057	101739316	13	3577											
HOXD10	3236	hgsc.bcm.edu	37	2	176983838	176983838	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr2:176983838A>C	ENST00000249501.4	+	2	1157	c.902A>C	c.(901-903)aAg>aCg	p.K301T	HOXD-AS2_ENST00000440016.2_RNA|HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	301					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K301T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAGATCAGTAAGAGCGTTAAC	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											91	99	96					2																	176983838		2203	4300	6503	176692084	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.902A>C	2.37:g.176983838A>C	ENSP00000249501:p.Lys301Thr		176692084	Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464664	0.63513	.	.	ENSG00000128710	ENST00000249501	D	0.96365	-3.99	5.94	5.94	0.96194	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.132226	0.64402	D	0.000002	D	0.96222	0.8768	N	0.21508	0.67	0.53688	D	0.99997	D	0.60575	0.988	D	0.69654	0.965	D	0.97373	0.9977	10	0.87932	D	0	.	16.0682	0.80903	1.0:0.0:0.0:0.0	.	301	P28358	HXD10_HUMAN	T	301	ENSP00000249501:K301T	ENSP00000249501:K301T	K	+	2	0	HOXD10	176692084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.483000	0.60264	2.272000	0.75746	0.459000	0.35465	AAG		0.488	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			C	176983838	A	C	176983838	3	2	71	1	0	0	0	0	1	0	0	0	7319	72	3	5	908	5	HOXD10	2	176983838	Missense_Mutation	SNP	A	TCGA-13-0720-01A-01W-0370-10	35523781	176983838	66215535	14	3578											
DNAJC10	54431	hgsc.bcm.edu	37	2	183593684	183593684	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr2:183593684A>G	ENST00000264065.7	+	7	1011	c.596A>G	c.(595-597)aAc>aGc	p.N199S	DNAJC10_ENST00000537515.1_Missense_Mutation_p.N199S	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	199	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.N199S(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAAGGAGTCAACAGCTATCCC	0.378																																					Pancreas(56;860 1183 25669 35822 48585)											1	Substitution - Missense(1)	ovary(1)	2											151	143	146					2																	183593684		2203	4300	6503	183301929	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.596A>G	2.37:g.183593684A>G	ENSP00000264065:p.Asn199Ser		183301929	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882145	0.51908	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537515	T;T	0.03004	4.08;4.08	6.17	3.83	0.44106	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.183346	0.64402	D	0.000020	T	0.02848	0.0085	N	0.21373	0.66	0.53005	D	0.999961	B;B	0.17268	0.003;0.021	B;B	0.10450	0.001;0.005	T	0.48843	-0.8999	10	0.13470	T	0.59	.	10.4574	0.44559	0.87:0.0:0.13:0.0	.	199;199	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	S	199	ENSP00000264065:N199S;ENSP00000441560:N199S	ENSP00000264065:N199S	N	+	2	0	DNAJC10	183301929	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.735000	0.38176	0.575000	0.29434	0.533000	0.62120	AAC		0.378	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		G	183593684	A	G	183593684	3	3	71	1	0	0	0	0	1	0	0	0	4629	43	2	4	614	4	DNAJC10	2	183593684	Missense_Mutation	SNP	A	TCGA-13-0720-01A-01W-0370-10	6609846	183593684	59605689	15	3579											
CELSR3	1951	hgsc.bcm.edu	37	3	48680318	48680318	+	Splice_Site	SNP	C	C	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr3:48680318C>T	ENST00000164024.4	-	30	8687		c.e30-1		CELSR3_ENST00000544264.1_Splice_Site|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCCAGGTCCCTGGGGGTGGT	0.622																																																1	Unknown(1)	ovary(1)	3											63	75	71					3																	48680318		2203	4299	6502	48655322	SO:0001630	splice_region_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8407-1G>A	3.37:g.48680318C>T			48655322	O75092	Splice_Site	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899178	0.52227	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CELSR3	48655322	1.000000	0.71417	0.991000	0.47740	0.344000	0.29017	6.784000	0.75084	2.686000	0.91538	0.561000	0.74099	.		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	Intron	T	48680318	C	T	48680318	5	4	71	1	0	0	0	0	0	0	1	0	3223	695	24	2	1556	2	CELSR3	3	48680318	Splice_Site	SNP	C	TCGA-13-0720-01A-01W-0370-10		48680318	149342112	16	3580											
ITIH4	3700	hgsc.bcm.edu	37	3	52848038	52848038	+	Silent	SNP	G	G	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr3:52848038G>A	ENST00000266041.4	-	23	2772	c.2676C>T	c.(2674-2676)gaC>gaT	p.D892D	ITIH4_ENST00000485816.1_Silent_p.D897D|ITIH4_ENST00000406595.1_Silent_p.D862D|ITIH4_ENST00000346281.5_Silent_p.D876D|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	892					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D892D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCGTCTGCCGTCATCTGATG	0.602																																																1	Substitution - coding silent(1)	ovary(1)	3											55	45	48					3																	52848038		2203	4300	6503	52823078	SO:0001819	synonymous_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2676C>T	3.37:g.52848038G>A			52823078	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	2.270	-0.367311	0.05069	.	.	ENSG00000055955	ENST00000441637	.	.	.	5.07	1.0	0.19881	.	.	.	.	.	T	0.23330	0.0564	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.22103	-1.0226	4	.	.	.	-17.1561	3.3201	0.07047	0.2975:0.0:0.5204:0.1821	.	.	.	.	W	681	.	.	R	-	1	2	ITIH4	52823078	0.059000	0.20769	0.004000	0.12327	0.005000	0.04900	0.746000	0.26275	0.391000	0.25143	-0.126000	0.14955	CGG		0.602	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		A	52848038	G	A	52848038	2	1	71	1	0	0	0	0	0	0	0	1	7906	1136	40	1		1	ITIH4	3	52848038	Silent	SNP	G	TCGA-13-0720-01A-01W-0370-10	4167720	52848038	145174392	17	3581											
CHMP2B	25978	hgsc.bcm.edu	37	3	87294929	87294929	+	Silent	SNP	A	A	G	rs148750997	byFrequency	TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr3:87294929A>G	ENST00000263780.4	+	3	430	c.192A>G	c.(190-192)caA>caG	p.Q64Q	CHMP2B_ENST00000494980.1_Silent_p.Q64Q|CHMP2B_ENST00000471660.1_Silent_p.Q23Q|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	64					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)	p.Q64Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TAGCCAAACAACTTGTGCATC	0.318													A|||	8	0.00159744	0	0	5008	,	,		15769	0.005		0	False		,,,				2504	0.0031															1	Substitution - coding silent(1)	ovary(1)	3						A		6,4400	11.4+/-27.6	0,6,2197	77	81	79		192	-1.9	1	3	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	CHMP2B	NM_014043.3		0,6,6497	GG,GA,AA		0.0,0.1362,0.0461		64/214	87294929	6,13000	2203	4300	6503	87377619	SO:0001819	synonymous_variant	25978			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.192A>G	3.37:g.87294929A>G			87377619	B4DJG8|Q53HC7|Q9Y4U6	Silent	SNP	ENST00000263780.4	37	CCDS2918.1																																																																																				0.318	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		G	87294929	A	G	87294929	2	3	71	1	0	0	0	0	0	0	0	1	3355	40	2	4		4	CHMP2B	3	87294929	Silent	SNP	A	TCGA-13-0720-01A-01W-0370-10	34446891	87294929	110727501	18	3582											
PIK3R4	30849	hgsc.bcm.edu	37	3	130422625	130422625	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr3:130422625C>A	ENST00000356763.3	-	13	3597	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1014					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D1014Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ACTGTGCCATCATTTGAACAT	0.408																																																1	Substitution - Missense(1)	ovary(1)	3											233	206	215					3																	130422625		2203	4300	6503	131905315	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3040G>T	3.37:g.130422625C>A	ENSP00000349205:p.Asp1014Tyr		131905315	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771763	0.90108	.	.	ENSG00000196455	ENST00000356763	D	0.89415	-2.51	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98221	1.0478	10	0.87932	D	0	-30.4476	18.9862	0.92771	0.0:1.0:0.0:0.0	.	1014	Q99570	PI3R4_HUMAN	Y	1014	ENSP00000349205:D1014Y	ENSP00000349205:D1014Y	D	-	1	0	PIK3R4	131905315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.779000	0.85648	2.476000	0.83614	0.591000	0.81541	GAT		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		A	130422625	C	A	130422625	3	1	71	1	0	0	0	0	1	0	0	0	11921	826	29	3	1068	3	PIK3R4	3	130422625	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10	43127696	130422625	67599805	19	3583											
ATP13A5	344905	hgsc.bcm.edu	37	3	193096507	193096507	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr3:193096507T>C	ENST00000342358.4	-	1	125	c.8A>G	c.(7-9)gAg>gGg	p.E3G		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	3						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E3G(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTACTGTTCTCTTCCATCTG	0.468																																																1	Substitution - Missense(1)	ovary(1)	3											161	146	151					3																	193096507		2203	4300	6503	194579201	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.8A>G	3.37:g.193096507T>C	ENSP00000341942:p.Glu3Gly		194579201	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399488	0.42512	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	D;T	0.84873	-1.91;0.65	4.72	3.56	0.40772	.	0.456078	0.19920	N	0.103112	T	0.67822	0.2934	N	0.08118	0	0.09310	N	1	P	0.36282	0.546	B	0.32980	0.156	T	0.62329	-0.6877	10	0.72032	D	0.01	-0.8928	7.3762	0.26829	0.0:0.1028:0.0:0.8972	.	3	Q4VNC0	AT135_HUMAN	G	3	ENSP00000341942:E3G;ENSP00000389416:E3G	ENSP00000341942:E3G	E	-	2	0	ATP13A5	194579201	0.969000	0.33509	0.045000	0.18777	0.110000	0.19582	1.498000	0.35660	0.917000	0.36895	0.528000	0.53228	GAG		0.468	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		C	193096507	T	C	193096507	3	2	71	1	0	0	0	0	1	0	0	0	1127	1551	54	4	3766	4	ATP13A5	3	193096507	Missense_Mutation	SNP	T	TCGA-13-0720-01A-01W-0370-10	62673882	193096507	4925923	20	3584											
TMPRSS11D	9407	hgsc.bcm.edu	37	4	68693234	68693234	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr4:68693234A>T	ENST00000283916.6	-	8	795	c.697T>A	c.(697-699)Tct>Act	p.S233T	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.S116T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	233	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.S233T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGAGGATTAGAGTTGCTAAAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	4											33	32	32					4																	68693234		2203	4298	6501	68375829	SO:0001583	missense	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.697T>A	4.37:g.68693234A>T	ENSP00000283916:p.Ser233Thr		68375829	Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.125247	0.37533	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.89123	-2.47;-2.47	5.58	-6.41	0.01938	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.787785	0.11414	N	0.566497	T	0.74435	0.3716	N	0.21282	0.65	0.09310	N	1	B	0.25850	0.136	B	0.21151	0.033	T	0.61387	-0.7073	10	0.16420	T	0.52	.	9.095	0.36634	0.3059:0.0:0.5629:0.1312	.	233	O60235	TM11D_HUMAN	T	233;116	ENSP00000283916:S233T;ENSP00000442045:S116T	ENSP00000283916:S233T	S	-	1	0	TMPRSS11D	68375829	0.002000	0.14202	0.000000	0.03702	0.019000	0.09904	-0.228000	0.09114	-0.667000	0.05303	0.533000	0.62120	TCT		0.313	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		T	68693234	A	T	68693234	3	4	71	1	0	0	0	0	1	0	0	0	16241	304	11	5	571	5	TMPRSS11D	4	68693234	Missense_Mutation	SNP	A	TCGA-13-0720-01A-01W-0370-10		68693234	122461042	21	3585											
TMPRSS11F	389208	hgsc.bcm.edu	37	4	68964726	68964726	+	Silent	SNP	T	T	A	rs146311461	byFrequency	TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr4:68964726T>A	ENST00000356291.2	-	2	101	c.42A>T	c.(40-42)tcA>tcT	p.S14S		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	14						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.S14S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATTCAGCTCGTGAGAATTCAG	0.333																																																1	Substitution - coding silent(1)	ovary(1)	4											79	77	77					4																	68964726		2203	4300	6503	68647321	SO:0001819	synonymous_variant	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.42A>T	4.37:g.68964726T>A			68647321	A8MXX2	Silent	SNP	ENST00000356291.2	37	CCDS3520.1																																																																																				0.333	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		A	68964726	T	A	68964726	2	1	71	1	0	0	0	0	0	0	0	1	16243	1683	59	5		5	TMPRSS11F	4	68964726	Silent	SNP	T	TCGA-13-0720-01A-01W-0370-10	271492	68964726	122189550	22	3586											
CCT5	22948	hgsc.bcm.edu	37	5	10262704	10262704	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr5:10262704C>G	ENST00000280326.4	+	9	1711	c.1291C>G	c.(1291-1293)Ctg>Gtg	p.L431V	CCT5_ENST00000503026.1_Missense_Mutation_p.L410V|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515390.1_Missense_Mutation_p.L376V|CCT5_ENST00000506600.1_Missense_Mutation_p.L338V|CCT5_ENST00000515676.1_Missense_Mutation_p.L393V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	431					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)	p.L431V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ATCCTGTGCCCTGGCAGTTAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											158	131	141					5																	10262704		2203	4300	6503	10315704	SO:0001583	missense	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1291C>G	5.37:g.10262704C>G	ENSP00000280326:p.Leu431Val		10315704	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177394	0.38413	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.09	-4.92	0.03075	.	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.37897	1.145	0.40823	D	0.983529	B;B;B;B;B	0.19200	0.034;0.031;0.015;0.015;0.015	B;B;B;B;B	0.35688	0.103;0.126;0.208;0.208;0.208	T	0.51818	-0.8657	10	0.33141	T	0.24	-17.9864	14.9867	0.71353	0.0:0.169:0.0:0.831	.	338;376;429;431;431	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	V	431;410;376;404;393;338	ENSP00000280326:L431V;ENSP00000423318:L410V;ENSP00000426923:L376V;ENSP00000427297:L393V;ENSP00000423052:L338V	ENSP00000280326:L431V	L	+	1	2	CCT5	10315704	0.030000	0.19436	0.003000	0.11579	0.977000	0.68977	0.274000	0.18680	-0.901000	0.03891	0.558000	0.71614	CTG		0.542	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			G	10262704	C	G	10262704	3	3	71	1	0	0	0	0	1	0	0	0	2956	680	24	3	1325	3	CCT5	5	10262704	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10		10262704	170652556	23	3587											
ADAMTS12	81792	hgsc.bcm.edu	37	5	33596148	33596148	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr5:33596148C>T	ENST00000504830.1	-	17	2880	c.2545G>A	c.(2545-2547)Gcc>Acc	p.A849T	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A764T|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	849	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A849T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGCAATGGGCAGTTTGGCGG	0.517										HNSCC(64;0.19)																																						1	Substitution - Missense(1)	ovary(1)	5											133	122	126					5																	33596148		2203	4300	6503	33631905	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2545G>A	5.37:g.33596148C>T	ENSP00000422554:p.Ala849Thr		33631905	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068293	0.93950	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.51325	0.71;0.71	5.77	5.77	0.91146	.	0.221099	0.47093	D	0.000252	T	0.66790	0.2825	M	0.78456	2.415	0.80722	D	1	D;P	0.76494	0.999;0.947	D;P	0.63033	0.91;0.867	T	0.59825	-0.7381	10	0.11182	T	0.66	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	764;849	P58397-3;P58397	.;ATS12_HUMAN	T	849;764	ENSP00000422554:A849T;ENSP00000344847:A764T	ENSP00000344847:A764T	A	-	1	0	ADAMTS12	33631905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.669000	0.46825	2.890000	0.99128	0.585000	0.79938	GCC		0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33596148	C	T	33596148	3	4	71	1	0	0	0	0	1	0	0	0	257	710	25	2	2271	2	ADAMTS12	5	33596148	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10	23333444	33596148	147319112	24	3588											
C5orf33	133686	hgsc.bcm.edu	37	5	36219718	36219720	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr5:36219718_36219720delCTT	ENST00000381937.4	-	5	621_623	c.622_624delAAG	c.(622-624)aagdel	p.K208del	NADK2_ENST00000514504.1_In_Frame_Del_p.K208del|NADK2_ENST00000282512.3_In_Frame_Del_p.K45del|NADK2_ENST00000397338.1_In_Frame_Del_p.K45del|NADK2_ENST00000506945.1_In_Frame_Del_p.K45del|NADK2-AS1_ENST00000501794.2_RNA	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	208					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)	p.K45*(1)|p.K45delK(1)									CACGATAGAACTTCTGTAAGGCT	0.355																																																2	Substitution - Nonsense(1)|Deletion - In frame(1)	ovary(2)	5																																								36255477	SO:0001651	inframe_deletion	133686			BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.622_624delAAG	5.37:g.36219718_36219720delCTT	ENSP00000371362:p.Lys208del		36255475	B5MC93|Q6UTX5|Q96NM0	In_Frame_Del	DEL	ENST00000381937.4	37	CCDS47197.1																																																																																				0.355	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		-	36219720	CTT	-	36219718	7	5	71	1	0	1	0	1	0	0	0	0	2292	564	20	0	736	0	C5orf33	5	36219718	In_Frame_Del	DEL	CTT	TCGA-13-0720-01A-01W-0370-10	2623570	36219718	144695542	25	3589	10	2									
C5orf33	133686	hgsc.bcm.edu	37	5	36219720	36219720	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr5:36219720T>A	ENST00000381937.4	-	5	621	c.622A>T	c.(622-624)Aag>Tag	p.K208*	NADK2_ENST00000514504.1_Nonsense_Mutation_p.K208*|NADK2_ENST00000282512.3_Nonsense_Mutation_p.K45*|NADK2_ENST00000397338.1_Nonsense_Mutation_p.K45*|NADK2_ENST00000506945.1_Nonsense_Mutation_p.K45*|NADK2-AS1_ENST00000501794.2_RNA	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	208					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)	p.K45*(1)|p.K45delK(1)									CGATAGAACTTCTGTAAGGCT	0.353																																																2	Substitution - Nonsense(1)|Deletion - In frame(1)	ovary(2)	5											114	110	112					5																	36219720		2203	4300	6503	36255477	SO:0001587	stop_gained	133686			BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.622A>T	5.37:g.36219720T>A	ENSP00000371362:p.Lys208*		36255477	B5MC93|Q6UTX5|Q96NM0	Nonsense_Mutation	SNP	ENST00000381937.4	37	CCDS47197.1	.	.	.	.	.	.	.	.	.	.	T	38	6.761155	0.97817	.	.	ENSG00000152620	ENST00000397338;ENST00000282512;ENST00000381937;ENST00000506945;ENST00000514504;ENST00000511088	.	.	.	5.77	5.77	0.91146	.	0.133059	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6788	15.0723	0.72046	0.0:0.0:0.0:1.0	.	.	.	.	X	45;45;208;45;208;45	.	ENSP00000282512:K45X	K	-	1	0	NADKD1	36255477	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.018000	0.64054	2.187000	0.69744	0.528000	0.53228	AAG		0.353	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		A	36219720	T	A	36219720	4	1	71	1	0	0	0	0	0	1	0	0	2292	1792	62	5	738	5	C5orf33	5	36219720	Nonsense_Mutation	SNP	T	TCGA-13-0720-01A-01W-0370-10	2	36219720	144695540	26	3590	10	2									
IL17F	112744	hgsc.bcm.edu	37	6	52101943	52101943	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr6:52101943T>A	ENST00000336123.4	-	3	385	c.278A>T	c.(277-279)tAc>tTc	p.Y93F		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	93					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)	p.Y93F(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTCCGAGGGGTACCGGTTGGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	6											50	47	48					6																	52101943		2203	4300	6503	52209902	SO:0001583	missense	112744			AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"Interleukins and interleukin receptors"	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.278A>T	6.37:g.52101943T>A	ENSP00000337432:p.Tyr93Phe		52209902	Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.629899	0.00813	.	.	ENSG00000112116	ENST00000336123	T	0.57752	0.38	5.54	3.09	0.35607	.	0.311416	0.35772	N	0.002991	T	0.06508	0.0167	N	0.01771	-0.73	0.26938	N	0.966306	B	0.12630	0.006	B	0.20767	0.031	T	0.43442	-0.9391	10	0.02654	T	1	-23.2798	9.3228	0.37975	0.7078:0.0:0.0:0.2922	.	93	Q96PD4	IL17F_HUMAN	F	93	ENSP00000337432:Y93F	ENSP00000337432:Y93F	Y	-	2	0	IL17F	52209902	0.998000	0.40836	0.992000	0.48379	0.043000	0.13939	2.038000	0.41184	0.372000	0.24591	-1.407000	0.01130	TAC		0.552	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		A	52101943	T	A	52101943	3	1	71	1	0	0	0	0	1	0	0	0	7638	1638	57	5	217	5	IL17F	6	52101943	Missense_Mutation	SNP	T	TCGA-13-0720-01A-01W-0370-10		52101943	119013124	27	3591											
TRRAP	8295	hgsc.bcm.edu	37	7	98576481	98576481	+	Missense_Mutation	SNP	C	C	T	rs372599334		TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr7:98576481C>T	ENST00000359863.4	+	57	8776	c.8567C>T	c.(8566-8568)gCc>gTc	p.A2856V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A2838V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A2838V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2856	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A2838V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGAGTGCGCCTGGCGGGTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	7											71	74	73					7																	98576481		2203	4300	6503	98414417	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8567C>T	7.37:g.98576481C>T	ENSP00000352925:p.Ala2856Val		98414417	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.060415|6.060415	0.97246|0.97246	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.75260|.	-0.92;-0.92|.	6.03|6.03	6.03|6.03	0.97812|0.97812	PIK-related kinase (1);PIK-related kinase, FAT (1);|.	0.055265|.	0.64402|.	D|.	0.000001|.	D|D	0.84777|0.84777	0.5547|0.5547	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	P;D;D|.	0.58620|.	0.956;0.983;0.983|.	P;P;P|.	0.56700|.	0.627;0.804;0.804|.	D|D	0.85066|0.85066	0.0937|0.0937	10|5	0.56958|.	D|.	0.05|.	.|.	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2838;2577;2856|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|S	2856;2838;2837|2578	ENSP00000352925:A2856V;ENSP00000347733:A2838V|.	ENSP00000347733:A2838V|.	A|P	+|+	2|1	0|0	TRRAP|TRRAP	98414417|98414417	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98576481	C	T	98576481	3	4	71	1	0	0	0	0	1	0	0	0	16601	739	26	2	8731	2	TRRAP	7	98576481	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10		98576481	60562182	28	3592											
FSCN3	29999	hgsc.bcm.edu	37	7	127235527	127235527	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr7:127235527A>T	ENST00000265825.5	+	2	530	c.311A>T	c.(310-312)aAg>aTg	p.K104M	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	104						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K104M(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CGGAACAGCAAGTGGACCCTC	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											155	116	129					7																	127235527		2203	4300	6503	127022763	SO:0001583	missense	29999				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.311A>T	7.37:g.127235527A>T	ENSP00000265825:p.Lys104Met		127022763	A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674701	0.67928	.	.	ENSG00000106328	ENST00000265825	T	0.25085	1.82	5.59	5.59	0.84812	Fascin domain (1);Actin cross-linking (1);	0.087565	0.49916	D	0.000132	T	0.44286	0.1286	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	D	0.64321	0.924	T	0.38735	-0.9647	10	0.87932	D	0	-42.6881	12.4511	0.55677	1.0:0.0:0.0:0.0	.	104	Q9NQT6	FSCN3_HUMAN	M	104	ENSP00000265825:K104M	ENSP00000265825:K104M	K	+	2	0	FSCN3	127022763	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	1.710000	0.37920	2.254000	0.74563	0.533000	0.62120	AAG		0.557	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		T	127235527	A	T	127235527	3	4	71	1	0	0	0	0	1	0	0	0	6069	72	3	5	317	5	FSCN3	7	127235527	Missense_Mutation	SNP	A	TCGA-13-0720-01A-01W-0370-10	28659046	127235527	31903136	29	3593											
NOBOX	135935	hgsc.bcm.edu	37	7	144098311	144098311	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr7:144098311G>C	ENST00000467773.1	-	4	671	c.672C>G	c.(670-672)aaC>aaG	p.N224K	NOBOX_ENST00000223140.5_Missense_Mutation_p.N139K|NOBOX_ENST00000483238.1_Missense_Mutation_p.N224K	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	224					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)	p.N224K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACGGGCTGAGTTAGGGGCAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	7											32	33	33					7																	144098311		1956	4134	6090	143729244	SO:0001583	missense	135935					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.672C>G	7.37:g.144098311G>C	ENSP00000419457:p.Asn224Lys		143729244	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	G	10.81	1.454984	0.26161	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.92699	-2.82;-3.09;-2.79	4.8	2.92	0.33932	.	.	.	.	.	D	0.82458	0.5041	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.19946	0.027	T	0.65088	-0.6253	9	0.07644	T	0.81	-1.4104	7.6137	0.28145	0.0:0.1823:0.6286:0.189	.	224	O60393	NOBOX_HUMAN	K	224;224;139;13	ENSP00000419565:N224K;ENSP00000419457:N224K;ENSP00000223140:N139K	ENSP00000223140:N139K	N	-	3	2	NOBOX	143729244	0.017000	0.18338	0.003000	0.11579	0.002000	0.02628	0.346000	0.19997	0.578000	0.29487	0.555000	0.69702	AAC		0.592	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		C	144098311	G	C	144098311	3	2	71	1	0	0	0	0	1	0	0	0	10512	1020	36	3	1335	3	NOBOX	7	144098311	Missense_Mutation	SNP	G	TCGA-13-0720-01A-01W-0370-10	16862784	144098311	15040352	30	3594											
UBR5	51366	hgsc.bcm.edu	37	8	103323725	103323725	+	Splice_Site	SNP	C	C	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr8:103323725C>T	ENST00000520539.1	-	20	3025		c.e20-1		UBR5_ENST00000521922.1_Splice_Site|UBR5_ENST00000220959.4_Splice_Site	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						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.?(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)			TGGGAGATTCCTATAATAATG	0.353																																					Ovarian(131;96 1741 5634 7352 27489)											1	Unknown(1)	ovary(1)	8											66	69	68					8																	103323725		2203	4300	6503	103392901	SO:0001630	splice_region_variant	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.2419-1G>A	8.37:g.103323725C>T			103392901	B2RP24|J3KMW7|O94970|Q9NPL3	Splice_Site	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496712	0.85069	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7693	0.96356	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR5	103392901	1.000000	0.71417	0.997000	0.53966	0.848000	0.48234	7.663000	0.83820	2.669000	0.90835	0.561000	0.74099	.		0.353	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	Intron	T	103323725	C	T	103323725	5	4	71	1	0	0	0	0	0	0	1	0	16905	695	24	2	6141	2	UBR5	8	103323725	Splice_Site	SNP	C	TCGA-13-0720-01A-01W-0370-10		103323725	43040297	31	3595											
TRDMT1	1787	hgsc.bcm.edu	37	10	17201224	17201224	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr10:17201224C>A	ENST00000377799.3	-	7	511	c.464G>T	c.(463-465)gGc>gTc	p.G155V	TRDMT1_ENST00000377766.5_Missense_Mutation_p.W83C|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.G131V|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.G74V|TRDMT1_ENST00000351358.4_Missense_Mutation_p.G109V	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	155	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)	p.G155V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	ATTTGGAATGCCAAGCTGTAA	0.363																																																1	Substitution - Missense(1)	ovary(1)	10											59	62	61					10																	17201224		2203	4300	6503	17241230	SO:0001583	missense	1787			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.464G>T	10.37:g.17201224C>A	ENSP00000367030:p.Gly155Val		17241230	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	CCDS7114.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.46|15.46|15.46	2.840929|2.840929|2.840929	0.51057|0.51057|0.51057	.|.|.	.|.|.	ENSG00000107614|ENSG00000107614|ENSG00000107614	ENST00000436968|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000525762|ENST00000377766;ENST00000313936	.|T;T;T;T;T|.	.|0.75704|.	.|-0.96;-0.96;-0.96;-0.96;-0.96|.	5.64|5.64|5.64	4.74|4.74|4.74	0.60224|0.60224|0.60224	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.84902|0.84902|0.84902	0.5575|0.5575|0.5575	M|M|M	0.93197|0.93197|0.93197	3.39|3.39|3.39	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;1.0;1.0;1.0|.	.|D;D;D;D;D;D|.	.|0.97110|.	.|1.0;0.999;1.0;0.999;1.0;1.0|.	D|D|D	0.88999|0.88999|0.88999	0.3420|0.3420|0.3420	5|10|5	.|0.87932|.	.|D|.	.|0|.	-12.4056|-12.4056|-12.4056	14.5118|14.5118|14.5118	0.67791|0.67791|0.67791	0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717	.|.|.	.|84;74;155;109;131;155|.	.|B7Z1Y7;E7EMI8;Q6ICS7;O14717-3;O14717-2;O14717|.	.|.;.;.;.;.;TRDMT_HUMAN|.	S|V|C	63|155;131;109;74;113|83;88	.|ENSP00000367030:G155V;ENSP00000409354:G131V;ENSP00000324328:G109V;ENSP00000412256:G74V;ENSP00000431476:G113V|.	.|ENSP00000324328:G109V|.	A|G|W	-|-|-	1|2|3	0|0|0	TRDMT1|TRDMT1|TRDMT1	17241230|17241230|17241230	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	7.058000|7.058000|7.058000	0.76676|0.76676|0.76676	1.373000|1.373000|1.373000	0.46208|0.46208|0.46208	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCA|GGC|TGG		0.363	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		A	17201224	C	A	17201224	3	1	71	1	0	0	0	0	1	0	0	0	16467	739	26	3	731	3	TRDMT1	10	17201224	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10		17201224	118333523	32	3596											
DUSP13	51207	hgsc.bcm.edu	37	10	76863775	76863775	+	Silent	SNP	C	C	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr10:76863775C>T	ENST00000491677.2	-	4	710	c.168G>A	c.(166-168)ctG>ctA	p.L56L	DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Silent_p.L20L	NM_001007271.1	NP_001007272.1	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	159					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L56L(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCGCCTGGGCCAGAGCCTCCA	0.632																																					NSCLC(174;1655 2059 12324 40663 42963)											1	Substitution - coding silent(1)	ovary(1)	10											28	29	29					10																	76863775		2196	4297	6493	76533781	SO:0001819	synonymous_variant	51207			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000491677.2:c.168G>A	10.37:g.76863775C>T			76533781	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Silent	SNP	ENST00000491677.2	37																																																																																					0.632	DUSP13-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				T	76863775	C	T	76863775	2	4	71	1	0	0	0	0	0	0	0	1	4813	581	21	2		2	DUSP13	10	76863775	Silent	SNP	C	TCGA-13-0720-01A-01W-0370-10	59662551	76863775	58670972	33	3597											
XPNPEP1	7511	hgsc.bcm.edu	37	10	111630549	111630549	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr10:111630549C>A	ENST00000502935.1	-	18	1755	c.1636G>T	c.(1636-1638)Ggc>Tgc	p.G546C	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.G503C|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.G432C|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.G522C					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.G503C(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TAACTGATGCCGCAAGGACCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	10											174	153	160					10																	111630549		2203	4300	6503	111620539	SO:0001583	missense	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1636G>T	10.37:g.111630549C>A	ENSP00000421566:p.Gly546Cys		111620539		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921515	0.92249	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.66	5.66	0.87406	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90410	0.6998	H	0.96080	3.765	0.80722	D	1	D;D	0.60160	0.987;0.958	P;P	0.56042	0.79;0.789	D	0.93185	0.6578	10	0.87932	D	0	-19.2426	17.9255	0.88982	0.0:1.0:0.0:0.0	.	546;503	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	C	546;432;522;503	ENSP00000421566:G546C;ENSP00000358697:G432C;ENSP00000324011:G522C;ENSP00000358694:G503C	ENSP00000324011:G522C	G	-	1	0	XPNPEP1	111620539	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.639000	0.67868	2.677000	0.91161	0.591000	0.81541	GGC		0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			A	111630549	C	A	111630549	3	1	71	1	0	0	0	0	1	0	0	0	17442	652	23	3	380	3	XPNPEP1	10	111630549	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10	34766774	111630549	23904198	34	3598											
KNDC1	85442	hgsc.bcm.edu	37	10	135020391	135020391	+	Silent	SNP	G	G	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr10:135020391G>T	ENST00000304613.3	+	19	3534	c.3513G>T	c.(3511-3513)ctG>ctT	p.L1171L	KNDC1_ENST00000368572.2_Silent_p.L1173L|KNDC1_ENST00000368571.2_Silent_p.L1106L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1171					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.L1171L(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGTCCAAGCTGAAAGGGCAGC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	10											112	116	115					10																	135020391		2203	4300	6503	134870381	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3513G>T	10.37:g.135020391G>T			134870381	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																				0.617	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		T	135020391	G	T	135020391	2	4	71	1	0	0	0	0	0	0	0	1	8426	1277	45	3		3	KNDC1	10	135020391	Silent	SNP	G	TCGA-13-0720-01A-01W-0370-10	23389842	135020391	514356	35	3599											
MS4A14	84689	hgsc.bcm.edu	37	11	60170525	60170525	+	Silent	SNP	T	T	C			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr11:60170525T>C	ENST00000300187.6	+	4	736	c.459T>C	c.(457-459)acT>acC	p.T153T	MS4A14_ENST00000395005.2_Silent_p.T136T|MS4A14_ENST00000395001.1_Silent_p.T41T|MS4A14_ENST00000531783.1_Silent_p.T153T|MS4A14_ENST00000531787.1_Silent_p.T41T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	153						integral component of membrane (GO:0016021)		p.T153T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCAGTAGAACTCTTTTCATTG	0.343																																																1	Substitution - coding silent(1)	ovary(1)	11											199	182	187					11																	60170525		2203	4300	6503	59927101	SO:0001819	synonymous_variant	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.459T>C	11.37:g.60170525T>C			59927101	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	T	3.340	-0.134717	0.06711	.	.	ENSG00000166928	ENST00000534688	.	.	.	4.77	-2.55	0.06288	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24799	-1.0150	4	.	.	.	-3.1196	0.3649	0.00370	0.2352:0.173:0.2942:0.2977	.	.	.	.	P	112	.	.	L	+	2	0	MS4A14	59927101	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.031000	0.03578	-0.294000	0.08973	-0.340000	0.08031	CTC		0.343	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			C	60170525	T	C	60170525	2	2	71	1	0	0	0	0	0	0	0	1	9858	1538	54	4		4	MS4A14	11	60170525	Silent	SNP	T	TCGA-13-0720-01A-01W-0370-10		60170525	74835991	36	3600											
HIST4H4	121504	hgsc.bcm.edu	37	12	14923910	14923910	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr12:14923910G>A	ENST00000539745.1	-	1	155	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	37					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R37C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CGGGCGAGACGGCGAATCGCC	0.617											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											54	55	55					12																	14923910		2203	4300	6503	14815177	SO:0001583	missense	121504			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"Histones / Replication-dependent"	20510	protein-coding gene	gene with protein product		615069	"histone 4, H4"			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.109C>T	12.37:g.14923910G>A	ENSP00000443017:p.Arg37Cys	698	14815177	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000539745.1	37	CCDS8665.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438689	0.43326	.	.	ENSG00000197837	ENST00000539745	D	0.85339	-1.97	4.18	3.27	0.37495	.	0.000000	0.56097	U	0.000036	D	0.88507	0.6455	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.88661	0.3189	7	0.66056	D	0.02	.	11.255	0.49048	0.0:0.0:0.816:0.184	.	.	.	.	C	37	ENSP00000443017:R37C	ENSP00000350767:R37C	R	-	1	0	HIST4H4	14815177	1.000000	0.71417	0.154000	0.22540	0.049000	0.14656	5.781000	0.68964	1.088000	0.41272	0.650000	0.86243	CGT		0.617	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		A	14923910	G	A	14923910	3	1	71	1	0	0	0	0	1	0	0	0	7185	1116	39	1	206	1	HIST4H4	12	14923910	Missense_Mutation	SNP	G	TCGA-13-0720-01A-01W-0370-10		14923910	118927985	37	3601											
ABCD2	225	hgsc.bcm.edu	37	12	39997787	39997787	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	T	T	C	T	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr12:39997787T>C	ENST00000308666.3	-	5	1562	c.1427A>G	c.(1426-1428)cAc>cGc	p.H476R		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	476					fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.H476R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AATAATTCCGTGATCCACATC	0.318																																																1	Substitution - Missense(1)	ovary(1)	12											98	99	99					12																	39997787		2203	4300	6503	38284054	SO:0001583	missense	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1427A>G	12.37:g.39997787T>C	ENSP00000310688:p.His476Arg		38284054	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	8.911	0.958758	0.18507	.	.	ENSG00000173208	ENST00000308666	D	0.99841	-7.09	5.08	3.9	0.45041	.	0.311951	0.30809	N	0.008840	D	0.98369	0.9458	N	0.13098	0.295	0.40075	D	0.976063	B	0.02656	0.0	B	0.04013	0.001	D	0.99965	1.1835	9	.	.	.	-17.8259	10.8843	0.46957	0.0:0.0754:0.0:0.9246	.	476	Q9UBJ2	ABCD2_HUMAN	R	476	ENSP00000310688:H476R	.	H	-	2	0	ABCD2	38284054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.707000	0.54838	0.756000	0.33013	0.460000	0.39030	CAC		0.318	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		C	39997787	T	C	39997787	3	2	71	1	0	0	0	0	1	0	0	0	61	1696	59	4	819	4	ABCD2	12	39997787	Missense_Mutation	SNP	T	TCGA-13-0720-01A-01W-0370-10	25073877	39997787	93854108	38	3602											
ADAMTS20	80070	hgsc.bcm.edu	37	12	43896143	43896154	+	In_Frame_Del	DEL	CATTAAGATCTT	CATTAAGATCTT	-			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	CATTAAGATCTT	CATTAAGATCTT	CATTAAGATCTT	-	CATTAAGATCTT	CATTAAGATCTT	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr12:43896143_43896154delCATTAAGATCTT	ENST00000389420.3	-	4	667_678	c.668_679delAAGATCTTAATG	c.(667-681)gaagatcttaatgta>gta	p.EDLN223del	ADAMTS20_ENST00000553158.1_In_Frame_Del_p.EDLN223del	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	223					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E223_N226del(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTTTCATTACATTAAGATCTTCATTCATGTT	0.316																																																1	Deletion - In frame(1)	ovary(1)	12																																								42182421	SO:0001651	inframe_deletion	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.668_679delAAGATCTTAATG	12.37:g.43896143_43896154delCATTAAGATCTT	ENSP00000374071:p.Glu223_Asn226del		42182410	A6NNC9|J3QT00	In_Frame_Del	DEL	ENST00000389420.3	37	CCDS31778.2																																																																																				0.316	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		-	43896154	CATTAAGATCTT	-	43896143	7	5	71	1	0	1	0	1	0	0	0	0	266	478	17	0	5196	0	ADAMTS20	12	43896143	In_Frame_Del	DEL	CATTAAGATCTT	TCGA-13-0720-01A-01W-0370-10	3898356	43896143	89955752	39	3603											
SYNE2	23224	hgsc.bcm.edu	37	14	64516480	64516481	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr14:64516480_64516481insT	ENST00000344113.4	+	47	7741_7742	c.7529_7530insT	c.(7528-7533)actttgfs	p.L2511fs	SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.L2511fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.L2544fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2511					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L2511fs*23(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACTTATTACTTTGAAGAAAA	0.391																																																1	Insertion - Frameshift(1)	ovary(1)	14																																								63586234	SO:0001589	frameshift_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7532dupT	14.37:g.64516483_64516483dupT	ENSP00000341781:p.Leu2511fs		63586233	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Ins	INS	ENST00000344113.4	37	CCDS41963.1																																																																																				0.391	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64516481	-	T	64516480	7	5	71	1	0	1	1	0	0	0	0	0	15446	565	20	0	7711	0	SYNE2	14	64516480	Frame_Shift_Ins	INS	-	TCGA-13-0720-01A-01W-0370-10		64516480	42833060	40	3604											
EXD2	55218	hgsc.bcm.edu	37	14	69695625	69695625	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr14:69695625C>G	ENST00000409018.3	+	3	554	c.426C>G	c.(424-426)atC>atG	p.I142M	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.I17M|EXD2_ENST00000409014.1_Missense_Mutation_p.I17M|EXD2_ENST00000312994.5_Missense_Mutation_p.I142M|EXD2_ENST00000409949.1_Missense_Mutation_p.I17M|EXD2_ENST00000409242.1_Missense_Mutation_p.I17M|EXD2_ENST00000409675.1_Missense_Mutation_p.I17M	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	142							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.I17M(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCAAGCTAATCTGTGGAGGAA	0.483																																																1	Substitution - Missense(1)	ovary(1)	14											109	103	105					14																	69695625		2203	4300	6503	68765378	SO:0001583	missense	55218			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.426C>G	14.37:g.69695625C>G	ENSP00000387331:p.Ile142Met		68765378	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605966	0.28623	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.63744	-0.02;-0.06;-0.06;-0.06;-0.06;-0.02;-0.06;-0.06	5.74	3.83	0.44106	Ribonuclease H-like (1);	0.564835	0.21759	N	0.069553	T	0.52805	0.1757	L	0.36672	1.1	0.20821	N	0.999842	B;B	0.28760	0.221;0.006	B;B	0.39771	0.309;0.011	T	0.46898	-0.9158	10	0.34782	T	0.22	-0.8965	4.4882	0.11801	0.2841:0.5082:0.1304:0.0773	.	142;17	G5E947;Q9NVH0	.;EXD2_HUMAN	M	142;142;17;17;17;17;142;17;17	ENSP00000387331:I142M;ENSP00000386915:I17M;ENSP00000386762:I17M;ENSP00000386632:I17M;ENSP00000386839:I17M;ENSP00000313140:I142M;ENSP00000409089:I17M;ENSP00000392177:I17M	ENSP00000193422:I142M	I	+	3	3	EXD2	68765378	0.242000	0.23868	0.979000	0.43373	0.897000	0.52465	0.572000	0.23684	0.696000	0.31696	0.563000	0.77884	ATC		0.483	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			G	69695625	C	G	69695625	3	3	71	1	0	0	0	0	1	0	0	0	5298	903	32	3	53	3	EXD2	14	69695625	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10	5179145	69695625	37653915	41	3605											
ZFYVE1	53349	hgsc.bcm.edu	37	14	73442336	73442336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr14:73442336C>A	ENST00000556143.1	-	9	2449	c.1729G>T	c.(1729-1731)Gga>Tga	p.G577*	ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.G563*|ZFYVE1_ENST00000555072.1_Nonsense_Mutation_p.G162*|ZFYVE1_ENST00000394207.2_Nonsense_Mutation_p.G162*|ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.G577*	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	577					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.G577*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTGGTGGGTCCAAGGCTAAGC	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	14											126	103	111					14																	73442336		2203	4300	6503	72512089	SO:0001587	stop_gained	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1729G>T	14.37:g.73442336C>A	ENSP00000450742:p.Gly577*		72512089	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Nonsense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	45	11.671480	0.99589	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	.	.	.	6.17	6.17	0.99709	.	0.150863	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-30.042	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	577;563;577;162;162	.	ENSP00000326921:G577X	G	-	1	0	ZFYVE1	72512089	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	4.742000	0.62103	2.941000	0.99782	0.655000	0.94253	GGA		0.567	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		A	73442336	C	A	73442336	4	1	71	1	0	0	0	0	0	1	0	0	17663	603	21	3	620	3	ZFYVE1	14	73442336	Nonsense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10	3746711	73442336	33907204	42	3606											
TP53BP1	7158	hgsc.bcm.edu	37	15	43771608	43771608	+	Missense_Mutation	SNP	G	G	A	rs535792451		TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr15:43771608G>A	ENST00000263801.3	-	7	1012	c.760C>T	c.(760-762)Cca>Tca	p.P254S	TP53BP1_ENST00000450115.2_Missense_Mutation_p.P259S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P259S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P259S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	254					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.P254S(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCAGGTGGTGGATTTTGCTCT	0.408								Other conserved DNA damage response genes																																								1	Substitution - Missense(1)	ovary(1)	15											253	211	225					15																	43771608		2201	4298	6499	41558900	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.760C>T	15.37:g.43771608G>A	ENSP00000263801:p.Pro254Ser		41558900	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	8.330	0.826199	0.16749	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.09445	3.81;3.81;3.81;3.81;2.98	4.95	-6.2	0.02072	.	1.226040	0.05628	N	0.581147	T	0.04272	0.0118	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.41574	-0.9501	10	0.10636	T	0.68	4.568	1.6194	0.02710	0.4378:0.2355:0.1956:0.1311	.	259;254;259;259	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	S	254;259;259;259;259	ENSP00000263801:P254S;ENSP00000371475:P259S;ENSP00000371470:P259S;ENSP00000393497:P259S;ENSP00000388028:P259S	ENSP00000263801:P254S	P	-	1	0	TP53BP1	41558900	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	-0.600000	0.05693	-0.916000	0.03818	-0.237000	0.12165	CCA		0.408	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			A	43771608	G	A	43771608	3	1	71	1	0	0	0	0	1	0	0	0	16383	1174	41	2	5246	2	TP53BP1	15	43771608	Missense_Mutation	SNP	G	TCGA-13-0720-01A-01W-0370-10		43771608	58759784	43	3607											
ZNF821	55565	hgsc.bcm.edu	37	16	71894523	71894523	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr16:71894523C>G	ENST00000565601.1	-	7	1044	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	ZNF821_ENST00000446827.2_Missense_Mutation_p.E171Q|ZNF821_ENST00000425432.1_Missense_Mutation_p.E213Q|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.E171Q|ZNF821_ENST00000564134.1_3'UTR	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E171Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GAGGGACCCTCATTGTGGACT	0.468																																																1	Substitution - Missense(1)	ovary(1)	16											84	80	81					16																	71894523		2198	4300	6498	70452024	SO:0001583	missense	55565			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.637G>C	16.37:g.71894523C>G	ENSP00000455648:p.Glu213Gln		70452024	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	C	8.143	0.785600	0.16189	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01406	6.53;4.93;4.93	5.95	5.95	0.96441	.	0.241197	0.43919	D	0.000516	T	0.00998	0.0033	N	0.08118	0	0.37296	D	0.908481	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.62840	-0.6769	10	0.17832	T	0.49	-15.7473	10.6537	0.45663	0.0:0.798:0.1329:0.0691	.	213;171;213	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	Q	213;171;171	ENSP00000398089:E213Q;ENSP00000313822:E171Q;ENSP00000405908:E171Q	ENSP00000313822:E171Q	E	-	1	0	ZNF821	70452024	0.994000	0.37717	0.949000	0.38748	0.103000	0.19146	3.191000	0.50981	2.824000	0.97209	0.655000	0.94253	GAG		0.468	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		G	71894523	C	G	71894523	3	3	71	1	0	0	0	0	1	0	0	0	18178	835	29	3	605	3	ZNF821	16	71894523	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10		71894523	18460230	44	3608											
TP53	7157	hgsc.bcm.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr17:7578454G>A	ENST00000269305.4	-	5	665	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V	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	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)	GATGGCCATGGCGCGGACGCG	0.627		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"	81	Substitution - Missense(42)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - frameshift(2)	central_nervous_system(15)|large_intestine(13)|lung(13)|stomach(6)|breast(6)|ovary(6)|oesophagus(4)|bone(4)|liver(4)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|prostate(1)	17											50	51	51					17																	7578454		2203	4300	6503	7519179	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.476C>T	17.37:g.7578454G>A	ENSP00000269305:p.Ala159Val		7519179	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	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211949	0.58452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.59	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99594	0.9853	L	0.49513	1.565	0.50171	D	0.999855	D;P;B;D;P;P;D	0.67145	0.984;0.881;0.358;0.989;0.832;0.769;0.996	P;P;B;P;P;P;P	0.59703	0.774;0.616;0.255;0.741;0.814;0.632;0.862	D	0.98152	1.0442	10	0.87932	D	0	-9.0177	10.7596	0.46258	0.0:0.2672:0.5942:0.1386	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159V;ENSP00000352610:A159V;ENSP00000269305:A159V;ENSP00000398846:A159V;ENSP00000391127:A159V;ENSP00000391478:A159V;ENSP00000425104:A27V;ENSP00000423862:A66V;ENSP00000424104:A159V	ENSP00000269305:A159V	A	-	2	0	TP53	7519179	1.000000	0.71417	0.377000	0.26055	0.171000	0.22731	7.969000	0.87988	0.364000	0.24374	-0.176000	0.13171	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578454	G	A	7578454	3	1	71	1	0	0	0	0	1	0	0	0	16381	1203	42	2	822	2	TP53	17	7578454	Missense_Mutation	SNP	G	TCGA-13-0720-01A-01W-0370-10		7578454	73616756	45	3609											
USP22	23326	hgsc.bcm.edu	37	17	20914546	20914547	+	Frame_Shift_Del	DEL	GG	GG	-	rs118038927	byFrequency	TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr17:20914546_20914547delGG	ENST00000261497.4	-	8	1223_1224	c.1020_1021delCC	c.(1018-1023)cccctgfs	p.L341fs	USP22_ENST00000537526.2_Frame_Shift_Del_p.L329fs|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	341	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L563fs*47(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CCTGGGCTCAGGGGCCAGAATG	0.629																																																1	Deletion - Frameshift(1)	ovary(1)	17																																								20855139	SO:0001589	frameshift_variant	23326			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1020_1021delCC	17.37:g.20914548_20914549delGG	ENSP00000261497:p.Leu341fs		20855138	A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Frame_Shift_Del	DEL	ENST00000261497.4	37	CCDS42285.1																																																																																				0.629	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			-	20914547	GG	-	20914546	7	5	71	1	0	1	0	1	0	0	0	0	17054	991	35	0	580	0	USP22	17	20914546	Frame_Shift_Del	DEL	GG	TCGA-13-0720-01A-01W-0370-10	13336092	20914546	60280664	46	3610											
CDH7	1005	hgsc.bcm.edu	37	18	63527046	63527054	+	In_Frame_Del	DEL	TTGAAAGAT	TTGAAAGAT	-	rs375501555		TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	TTGAAAGAT	TTGAAAGAT	-	-	TTGAAAGAT	TTGAAAGAT	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr18:63527046_63527054delTTGAAAGAT	ENST00000397968.2	+	10	2023_2031	c.1597_1605delTTGAAAGAT	c.(1597-1605)ttgaaagatdel	p.LKD533del	CDH7_ENST00000323011.3_In_Frame_Del_p.LKD533del|CDH7_ENST00000536984.2_In_Frame_Del_p.LKD533del	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D535Y(4)|p.L533_D535del(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAACTTTTCATTGAAAGATAACAAAGGTA	0.364																																																5	Substitution - Missense(4)|Deletion - In frame(1)	lung(4)|ovary(1)	18																																								61678034	SO:0001651	inframe_deletion	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1597_1605delTTGAAAGAT	18.37:g.63527046_63527054delTTGAAAGAT	ENSP00000381058:p.Leu533_Asp535del		61678026	Q9H157	In_Frame_Del	DEL	ENST00000397968.2	37	CCDS11993.1																																																																																				0.364	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		-	63527054	TTGAAAGAT	-	63527046	7	5	71	1	0	1	0	1	0	0	0	0	3115	1490	52	0	1631	0	CDH7	18	63527046	In_Frame_Del	DEL	TTGAAAGAT	TCGA-13-0720-01A-01W-0370-10		63527046	14550202	47	3611											
PLAUR	5329	hgsc.bcm.edu	37	19	44159723	44159723	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr19:44159723G>A	ENST00000340093.3	-	5	704	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	PLAUR_ENST00000601723.1_Missense_Mutation_p.R159C|PLAUR_ENST00000221264.4_Intron|PLAUR_ENST00000339082.3_Missense_Mutation_p.R159C	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	159	UPAR/Ly6 2.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.R159C(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCCTTTGGACGCCCTATGGGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	19											56	49	51					19																	44159723		2203	4300	6503	48851563	SO:0001583	missense	5329				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"CD molecules"	9053	protein-coding gene	gene with protein product	"urokinase-type plasminogen activator (uPA) receptor", "urokinase plasminogen activator surface receptor"	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.475C>T	19.37:g.44159723G>A	ENSP00000339328:p.Arg159Cys		48851563	A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173843	0.38413	.	.	ENSG00000011422	ENST00000339082;ENST00000340093	T;T	0.31247	1.5;1.5	4.79	-1.14	0.09741	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	5.773980	0.01394	N	0.013347	T	0.24392	0.0591	N	0.08118	0	0.09310	N	1	D;D;D	0.69078	0.985;0.985;0.997	P;P;P	0.51806	0.648;0.648;0.68	T	0.13361	-1.0512	10	0.59425	D	0.04	-1.8863	5.4088	0.16336	0.0:0.371:0.164:0.465	.	159;159;159	Q03405;Q9UPI5;Q03405-2	UPAR_HUMAN;.;.	C	159	ENSP00000342049:R159C;ENSP00000339328:R159C	ENSP00000342049:R159C	R	-	1	0	PLAUR	48851563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.120000	0.15647	-0.198000	0.10333	-1.083000	0.02208	CGT		0.547	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		A	44159723	G	A	44159723	3	1	71	1	0	0	0	0	1	0	0	0	12023	1087	38	1	640	1	PLAUR	19	44159723	Missense_Mutation	SNP	G	TCGA-13-0720-01A-01W-0370-10		44159723	14969260	48	3612											
ZNF222	7673	hgsc.bcm.edu	37	19	44536593	44536593	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr19:44536593C>T	ENST00000187879.8	+	4	928	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.P296S	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P256S(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGGGGAGAAGCCATTCAAATG	0.393																																																1	Substitution - Missense(1)	ovary(1)	19											131	136	134					19																	44536593		2203	4300	6503	49228433	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.766C>T	19.37:g.44536593C>T	ENSP00000187879:p.Pro256Ser		49228433	G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439738	0.63067	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.16743	2.32;2.32	2.79	0.389	0.16269	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37046	0.0989	M	0.79011	2.435	0.29816	N	0.831248	D;D	0.89917	0.997;1.0	D;D	0.73380	0.934;0.98	T	0.23154	-1.0196	9	0.66056	D	0.02	.	7.6732	0.28470	0.1829:0.6394:0.1776:0.0	.	296;256	G5E9B9;Q9UK12	.;ZN222_HUMAN	S	296;256;202	ENSP00000375822:P296S;ENSP00000187879:P256S	ENSP00000187879:P256S	P	+	1	0	ZNF222	49228433	0.924000	0.31332	0.006000	0.13384	0.461000	0.32589	4.270000	0.58896	0.029000	0.15352	0.205000	0.17691	CCA		0.393	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			T	44536593	C	T	44536593	3	4	71	1	0	0	0	0	1	0	0	0	17776	739	26	2	919	2	ZNF222	19	44536593	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10	376870	44536593	14592390	49	3613											
CD3EAP	10849	hgsc.bcm.edu	37	19	45912180	45912180	+	Silent	SNP	G	G	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr19:45912180G>A	ENST00000309424.3	+	3	1442	c.954G>A	c.(952-954)ctG>ctA	p.L318L	ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_Silent_p.L320L|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	318					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.L318L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGAGCCACTGGAGGAAGCCA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	19											98	101	100					19																	45912180		2203	4300	6503	50604020	SO:0001819	synonymous_variant	10849			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.954G>A	19.37:g.45912180G>A			50604020	Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	ENST00000309424.3	37	CCDS12661.1																																																																																				0.577	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		A	45912180	G	A	45912180	2	1	71	1	0	0	0	0	0	0	0	1	3012	1335	47	2		2	CD3EAP	19	45912180	Silent	SNP	G	TCGA-13-0720-01A-01W-0370-10	1375587	45912180	13216803	50	3614											
KCNQ2	3785	hgsc.bcm.edu	37	20	62071043	62071043	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr20:62071043C>T	ENST00000359125.2	-	6	1009	c.835G>A	c.(835-837)Ggc>Agc	p.G279S	KCNQ2_ENST00000370224.1_Missense_Mutation_p.G279S|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G279S|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G279S|KCNQ2_ENST00000344462.4_Missense_Mutation_p.G279S|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G279S|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G279S|KCNQ2_ENST00000354587.3_Missense_Mutation_p.G279S	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	279					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G279S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCCCGTAGCCAATGGTGGTC	0.647																																																1	Substitution - Missense(1)	ovary(1)	20											196	142	160					20																	62071043		2203	4300	6503	61541487	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.835G>A	20.37:g.62071043C>T	ENSP00000352035:p.Gly279Ser		61541487	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924555	0.92319	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99886	-7.52;-7.52;-7.52;-7.52;-7.52;-7.52;-7.52;-7.52;-7.52;-7.52;-7.52;-7.52	4.01	4.01	0.46588	Ion transport (1);	0.063133	0.64402	D	0.000007	D	0.99923	0.9964	H	0.97214	3.96	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.968;0.968;0.968;0.981	D	0.95706	0.8753	10	0.87932	D	0	-18.4709	16.4798	0.84155	0.0:1.0:0.0:0.0	.	279;279;279;279;279;279	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	S	279	ENSP00000349789:G279S;ENSP00000352035:G279S;ENSP00000359246:G279S;ENSP00000346601:G279S;ENSP00000352718:G279S;ENSP00000399612:G279S;ENSP00000353668:G279S;ENSP00000339611:G279S;ENSP00000359244:G279S;ENSP00000359242:G279S;ENSP00000359241:G279S;ENSP00000345523:G279S	ENSP00000345523:G279S	G	-	1	0	KCNQ2	61541487	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.854000	0.69503	1.908000	0.55244	0.561000	0.74099	GGC		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		T	62071043	C	T	62071043	3	4	71	1	0	0	0	0	1	0	0	0	8083	594	21	2	1895	2	KCNQ2	20	62071043	Missense_Mutation	SNP	C	TCGA-13-0720-01A-01W-0370-10		62071043	954477	51	3615											
SMARCB1	6598	hgsc.bcm.edu	37	22	24175875	24175875	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chr22:24175875A>G	ENST00000263121.7	+	8	1299	c.1103A>G	c.(1102-1104)cAg>cGg	p.Q368R	SMARCB1_ENST00000407422.3_Missense_Mutation_p.Q359R|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000344921.6_Missense_Mutation_p.Q377R|SMARCB1_ENST00000407082.3_Missense_Mutation_p.Q322R	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	368					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)|p.Q368R(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ATCCGCGACCAGGACAGGAAC	0.622			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	4	Unknown(2)|Substitution - Missense(1)|Deletion - In frame(1)	central_nervous_system(3)|ovary(1)	22											120	103	109					22																	24175875		2203	4300	6503	22505875	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1103A>G	22.37:g.24175875A>G	ENSP00000263121:p.Gln368Arg		22505875	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364456	0.82463	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	4.76	4.76	0.60689	.	0.108664	0.64402	D	0.000004	T	0.78629	0.4313	L	0.37750	1.13	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.74858	-0.3521	10	0.21540	T	0.41	-31.4772	13.8309	0.63380	1.0:0.0:0.0:0.0	.	377;359;368	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	R	377;368;359;322	ENSP00000340883:Q377R;ENSP00000263121:Q368R;ENSP00000383984:Q359R;ENSP00000385226:Q322R	ENSP00000263121:Q368R	Q	+	2	0	SMARCB1	22505875	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.040000	0.93783	1.934000	0.56057	0.444000	0.29173	CAG		0.622	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		G	24175875	A	G	24175875	3	3	71	1	0	0	0	0	1	0	0	0	14777	188	7	4	1133	4	SMARCB1	22	24175875	Missense_Mutation	SNP	A	TCGA-13-0720-01A-01W-0370-10		24175875	27128691	52	3616											
AWAT1	158833	hgsc.bcm.edu	37	X	69459756	69459756	+	Silent	SNP	G	G	A			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chrX:69459756G>A	ENST00000374521.3	+	6	845	c.804G>A	c.(802-804)ctG>ctA	p.L268L		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	268					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)	p.L348L(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTGGGCTCCTGCCATACTCCA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	X											75	68	70					X																	69459756		2203	4300	6503	69376481	SO:0001819	synonymous_variant	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.804G>A	X.37:g.69459756G>A			69376481	Q5JT21|Q6IEE4	Silent	SNP	ENST00000374521.3	37	CCDS35321.1																																																																																				0.542	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		A	69459756	G	A	69459756	2	1	71	1	0	0	0	0	0	0	0	1	1234	1306	46	2		2	AWAT1	23	69459756	Silent	SNP	G	TCGA-13-0720-01A-01W-0370-10		69459756	85810804	53	3617											
OGT	8473	hgsc.bcm.edu	37	X	70776599	70776599	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chrX:70776599G>T	ENST00000373719.3	+	9	1352	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*	OGT_ENST00000373701.3_Nonsense_Mutation_p.E369*	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	379					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.E369*(1)|p.E379*(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AAAACTGCAGGAAGCTCTGAT	0.378																																																2	Substitution - Nonsense(2)	ovary(2)	X											57	47	50					X																	70776599		2203	4300	6503	70693324	SO:0001587	stop_gained	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1135G>T	X.37:g.70776599G>T	ENSP00000362824:p.Glu379*		70693324	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Nonsense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	38	7.274179	0.98179	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.3493	18.4676	0.90761	0.0:0.0:1.0:0.0	.	.	.	.	X	379;369	.	ENSP00000362805:E369X	E	+	1	0	OGT	70693324	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.655000	0.98512	2.557000	0.86248	0.594000	0.82650	GAA		0.378	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		T	70776599	G	T	70776599	4	4	71	1	0	0	0	0	0	1	0	0	10847	1175	41	3	1169	3	OGT	23	70776599	Nonsense_Mutation	SNP	G	TCGA-13-0720-01A-01W-0370-10	1316843	70776599	84493961	54	3618											
MAGEA4	4103	hgsc.bcm.edu	37	X	151092857	151092857	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0720-01A-01W-0370-10	TCGA-13-0720-10B-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4653fef1-1e42-480c-8638-ceedbc004637	4f060048-ee63-4495-bfe3-a12438f95187	g.chrX:151092857G>T	ENST00000360243.2	+	3	988	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W	MAGEA4_ENST00000370340.3_Missense_Mutation_p.G241W|MAGEA4_ENST00000370335.1_Missense_Mutation_p.G241W|MAGEA4_ENST00000393921.1_Missense_Mutation_p.G241W|MAGEA4_ENST00000393920.1_Missense_Mutation_p.G241W|MAGEA4_ENST00000276344.2_Missense_Mutation_p.G241W|MAGEA4_ENST00000370337.4_Missense_Mutation_p.G241W	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	241	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.G241W(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CACTGTCTATGGGGAGCCCAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	X											105	106	106					X																	151092857		2203	4300	6503	150843513	SO:0001583	missense	4103				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.721G>T	X.37:g.151092857G>T	ENSP00000353379:p.Gly241Trp		150843513	Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004386	0.19199	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33	2.37	1.44	0.22558	.	0.214784	0.48767	D	0.000177	T	0.11239	0.0274	M	0.88570	2.965	0.09310	N	1	P	0.35107	0.484	B	0.36244	0.22	T	0.09796	-1.0658	9	.	.	.	.	6.0691	0.19879	0.0:0.3384:0.6616:0.0	.	241	P43358	MAGA4_HUMAN	W	241	ENSP00000276344:G241W;ENSP00000377498:G241W;ENSP00000394149:G241W;ENSP00000359362:G241W;ENSP00000402624:G241W;ENSP00000377497:G241W;ENSP00000359365:G241W;ENSP00000402186:G241W;ENSP00000359360:G241W;ENSP00000353379:G241W;ENSP00000390096:G241W	.	G	+	1	0	MAGEA4	150843513	0.994000	0.37717	0.073000	0.20177	0.090000	0.18270	2.097000	0.41748	0.399000	0.25367	0.292000	0.19580	GGG		0.582	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		T	151092857	G	T	151092857	3	4	71	1	0	0	0	0	1	0	0	0	9168	1348	47	3	723	3	MAGEA4	23	151092857	Missense_Mutation	SNP	G	TCGA-13-0720-01A-01W-0370-10	80316258	151092857	4177703	55	3619											
THRAP3	9967	genome.wustl.edu	37	1	36754874	36754874	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr1:36754874T>G	ENST00000354618.5	+	5	1478	c.1254T>G	c.(1252-1254)ttT>ttG	p.F418L	THRAP3_ENST00000469141.2_Missense_Mutation_p.F418L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	418	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.F418L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGATGACTTTGAGAAGAAGA	0.418			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	ovary(1)	1											80	79	79					1																	36754874		2203	4300	6503	36527461	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1254T>G	1.37:g.36754874T>G	ENSP00000346634:p.Phe418Leu		36527461	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460688	0.26248	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15718	2.4;2.4	5.84	5.84	0.93424	.	0.069378	0.64402	D	0.000008	T	0.12987	0.0315	L	0.31926	0.97	0.38009	D	0.934466	B	0.29136	0.234	B	0.31337	0.128	T	0.13282	-1.0515	10	0.09843	T	0.71	-12.7798	11.4	0.49864	0.0:0.0:0.151:0.849	.	418	Q9Y2W1	TR150_HUMAN	L	418	ENSP00000346634:F418L;ENSP00000433825:F418L	ENSP00000346634:F418L	F	+	3	2	THRAP3	36527461	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.494000	0.53273	2.232000	0.73038	0.533000	0.62120	TTT		0.418	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		G	36754874	T	G	36754874	3	3	72	1	0	0	0	0	1	0	0	0	15874	1809	63	5	1264	5	THRAP3	1	36754874	Missense_Mutation	SNP	T	TCGA-13-0723-01A-02W-0372-09		36754874	212495747	1	3620											
USP1	7398	genome.wustl.edu	37	1	62916019	62916019	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr1:62916019C>G	ENST00000339950.4	+	9	2540	c.1725C>G	c.(1723-1725)agC>agG	p.S575R	USP1_ENST00000371146.1_Missense_Mutation_p.S575R	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	575	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S575R(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CTAACGACAGCTATGGATTAT	0.393																																					Ovarian(122;1846 2315 3982 19504)											1	Substitution - Missense(1)	ovary(1)	1											147	129	135					1																	62916019		2203	4300	6503	62688607	SO:0001583	missense	7398				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1725C>G	1.37:g.62916019C>G	ENSP00000343526:p.Ser575Arg		62688607	A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	CCDS621.1	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805614	0.16467	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.29917	1.55;1.55	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.463283	0.28171	N	0.016327	T	0.16128	0.0388	N	0.05554	-0.025	0.42561	D	0.993147	B	0.14438	0.01	B	0.15052	0.012	T	0.14448	-1.0472	10	0.15952	T	0.53	-5.1204	13.1248	0.59349	0.0:0.9278:0.0:0.0721	.	575	O94782	UBP1_HUMAN	R	575	ENSP00000360188:S575R;ENSP00000343526:S575R	ENSP00000343526:S575R	S	+	3	2	USP1	62688607	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.846000	0.48262	2.941000	0.99782	0.655000	0.94253	AGC		0.393	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		G	62916019	C	G	62916019	3	3	72	1	0	0	0	0	1	0	0	0	17040	796	28	3	1755	3	USP1	1	62916019	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09	26161145	62916019	186334602	2	3621											
TCHH	7062	genome.wustl.edu	37	1	152080310	152080310	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr1:152080310T>C	ENST00000368804.1	-	2	5382	c.5383A>G	c.(5383-5385)Aga>Gga	p.R1795G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1795	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1795G(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGAATTTTCTGTCAGACTCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											77	78	77					1																	152080310		1938	4146	6084	150346934	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5383A>G	1.37:g.152080310T>C	ENSP00000357794:p.Arg1795Gly		150346934	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411381	0.25465	.	.	ENSG00000159450	ENST00000368804	T	0.06142	3.34	4.44	3.26	0.37387	.	.	.	.	.	T	0.03095	0.0091	N	0.20574	0.59	0.09310	N	1	D	0.64830	0.994	P	0.56865	0.808	T	0.46331	-0.9199	9	0.25106	T	0.35	0.0502	9.1723	0.37089	0.0:0.0:0.184:0.816	.	1795	Q07283	TRHY_HUMAN	G	1795	ENSP00000357794:R1795G	ENSP00000357794:R1795G	R	-	1	2	TCHH	150346934	0.001000	0.12720	0.182000	0.23118	0.199000	0.23934	-0.137000	0.10389	0.533000	0.28675	0.383000	0.25322	AGA		0.607	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		C	152080310	T	C	152080310	3	2	72	1	0	0	0	0	1	0	0	0	15700	1588	55	4	452	4	TCHH	1	152080310	Missense_Mutation	SNP	T	TCGA-13-0723-01A-02W-0372-09	89164291	152080310	97170311	3	3622											
TNR	7143	genome.wustl.edu	37	1	175293628	175293628	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr1:175293628C>A	ENST00000367674.2	-	22	4529	c.3821G>T	c.(3820-3822)cGc>cTc	p.R1274L	TNR_ENST00000263525.2_Missense_Mutation_p.R1274L|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1274	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R1274L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGAGAAAGGGCGTCCTTGATG	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											235	196	209					1																	175293628		2203	4300	6503	173560251	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3821G>T	1.37:g.175293628C>A	ENSP00000356646:p.Arg1274Leu		173560251	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	35	5.439926	0.96168	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.77229	-1.08;-1.08	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86801	0.1992	10	0.59425	D	0.04	.	19.3551	0.94408	0.0:1.0:0.0:0.0	.	1274	Q92752	TENR_HUMAN	L	1274;1274;1184	ENSP00000356646:R1274L;ENSP00000263525:R1274L	ENSP00000263525:R1274L	R	-	2	0	TNR	173560251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.711000	0.84669	2.666000	0.90696	0.655000	0.94253	CGC		0.478	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175293628	C	A	175293628	3	1	72	1	0	0	0	0	1	0	0	0	16338	768	27	3	263	3	TNR	1	175293628	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09	23213318	175293628	73956993	4	3623											
CEP350	9857	genome.wustl.edu	37	1	180023593	180023593	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr1:180023593C>T	ENST00000367607.3	+	25	5636	c.5218C>T	c.(5218-5220)Cgg>Tgg	p.R1740W		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1740					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R1740W(3)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCCCCCGCTCCGGAAGAAACA	0.398																																																3	Substitution - Missense(3)	endometrium(2)|ovary(1)	1											47	42	44					1																	180023593		2203	4299	6502	178290216	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5218C>T	1.37:g.180023593C>T	ENSP00000356579:p.Arg1740Trp		178290216	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383145	0.82792	.	.	ENSG00000135837	ENST00000367607	T	0.66460	-0.21	5.95	5.95	0.96441	.	0.000000	0.44483	D	0.000442	T	0.70859	0.3272	L	0.27053	0.805	0.49582	D	0.999809	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67914	-0.5547	9	.	.	.	.	13.5137	0.61528	0.2676:0.7323:0.0:0.0	.	1740;1740	E7EU22;Q5VT06	.;CE350_HUMAN	W	1740	ENSP00000356579:R1740W	.	R	+	1	2	CEP350	178290216	0.925000	0.31364	0.999000	0.59377	0.997000	0.91878	1.870000	0.39529	2.827000	0.97445	0.650000	0.86243	CGG		0.398	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		T	180023593	C	T	180023593	3	4	72	1	0	0	0	0	1	0	0	0	3254	643	23	1	5312	1	CEP350	1	180023593	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09	4729965	180023593	69227028	5	3624											
KLRAQ1	129285	genome.wustl.edu	37	2	48687278	48687278	+	Silent	SNP	T	T	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr2:48687278T>G	ENST00000294952.8	+	6	742	c.585T>G	c.(583-585)ctT>ctG	p.L195L	PPP1R21_ENST00000281394.4_Silent_p.L195L|PPP1R21_ENST00000449090.2_Silent_p.L195L	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	195						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.L195L(1)		endometrium(2)|kidney(4)|lung(9)	15						AATGTCGACTTCGAACGGAAG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	2											87	81	83					2																	48687278		2203	4300	6503	48540782	SO:0001819	synonymous_variant	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.585T>G	2.37:g.48687278T>G			48540782	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	ENST00000294952.8	37	CCDS46278.1																																																																																				0.428	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		G	48687278	T	G	48687278	2	3	72	1	0	0	0	0	0	0	0	1	8413	1770	62	5		5	KLRAQ1	2	48687278	Silent	SNP	T	TCGA-13-0723-01A-02W-0372-09		48687278	194512095	6	3625											
CNTNAP5	129684	genome.wustl.edu	37	2	124999868	124999868	+	Silent	SNP	G	G	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr2:124999868G>A	ENST00000431078.1	+	3	643	c.279G>A	c.(277-279)acG>acA	p.T93T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	93	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T93T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGTGGCCACGCAGGGAAGAT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	2											71	75	74					2																	124999868		2048	4200	6248	124716338	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.279G>A	2.37:g.124999868G>A			124716338	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.522	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	124999868	G	A	124999868	2	1	72	1	0	0	0	0	0	0	0	1	3650	1074	38	1		1	CNTNAP5	2	124999868	Silent	SNP	G	TCGA-13-0723-01A-02W-0372-09	76312590	124999868	118199505	7	3626											
AMT	275	genome.wustl.edu	37	3	49456462	49456462	+	Silent	SNP	A	A	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr3:49456462A>G	ENST00000273588.3	-	7	1121	c.819T>C	c.(817-819)taT>taC	p.Y273Y	AMT_ENST00000538581.1_Silent_p.Y217Y|AMT_ENST00000458307.2_Silent_p.Y229Y|AMT_ENST00000546031.1_Silent_p.Y176Y|AMT_ENST00000395338.2_Silent_p.Y273Y|AMT_ENST00000476226.1_5'UTR	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	273					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)	p.Y273Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	TGTCATTCCCATACAGGCAGA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	3											64	63	63					3																	49456462		2203	4300	6503	49431466	SO:0001819	synonymous_variant	275			D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"glycine cleavage system protein T"	238310	"aminomethyltransferase (glycine cleavage system protein T)"			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.819T>C	3.37:g.49456462A>G			49431466	A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Silent	SNP	ENST00000273588.3	37	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	A	7.252	0.603463	0.14002	.	.	ENSG00000145020	ENST00000427987	.	.	.	5.28	-1.39	0.08997	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50759	-0.8790	4	.	.	.	-11.7138	10.0805	0.42386	0.6928:0.0:0.3072:0.0	.	.	.	.	R	271	.	.	W	-	1	0	AMT	49431466	0.927000	0.31430	0.982000	0.44146	0.926000	0.56050	0.191000	0.17076	-0.228000	0.09869	-1.215000	0.01618	TGG		0.582	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		G	49456462	A	G	49456462	2	3	72	1	0	0	0	0	0	0	0	1	589	224	8	4		4	AMT	3	49456462	Silent	SNP	A	TCGA-13-0723-01A-02W-0372-09		49456462	148565968	8	3627											
FRMD4B	23150	genome.wustl.edu	37	3	69230516	69230516	+	Silent	SNP	C	C	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr3:69230516C>T	ENST00000398540.3	-	21	2468	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K	FRMD4B_ENST00000478263.1_Silent_p.K447K|FRMD4B_ENST00000542259.1_Silent_p.K741K	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	795					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)		p.K741K(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		GCTCCTGACTCTTTGAGTAAA	0.438																																																1	Substitution - coding silent(1)	ovary(1)	3											76	74	75					3																	69230516		1930	4132	6062	69313206	SO:0001819	synonymous_variant	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2385G>A	3.37:g.69230516C>T			69313206	Q8TAI3	Silent	SNP	ENST00000398540.3	37	CCDS46863.1																																																																																				0.438	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			T	69230516	C	T	69230516	2	4	72	1	0	0	0	0	0	0	0	1	6052	912	32	2		2	FRMD4B	3	69230516	Silent	SNP	C	TCGA-13-0723-01A-02W-0372-09	19774054	69230516	128791914	9	3628											
CBLB	868	genome.wustl.edu	37	3	105438963	105438963	+	Silent	SNP	C	C	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr3:105438963C>T	ENST00000264122.4	-	10	1656	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Silent_p.P445P|CBLB_ENST00000405772.1_Silent_p.P445P|CBLB_ENST00000394027.3_Silent_p.P467P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	445					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P445P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGTCTAGCATCGGCATGCCAA	0.463			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	1	Substitution - coding silent(1)	ovary(1)	3											117	99	105					3																	105438963		2203	4300	6503	106921653	SO:0001819	synonymous_variant	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1335G>A	3.37:g.105438963C>T			106921653	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	CCDS2948.1																																																																																				0.463	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		T	105438963	C	T	105438963	2	4	72	1	0	0	0	0	0	0	0	1	2701	871	31	1		1	CBLB	3	105438963	Silent	SNP	C	TCGA-13-0723-01A-02W-0372-09	36208447	105438963	92583467	10	3629											
UROC1	131669	genome.wustl.edu	37	3	126220718	126220718	+	Intron	SNP	A	A	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr3:126220718A>G	ENST00000290868.2	-	10	956				UROC1_ENST00000383579.3_Missense_Mutation_p.S326P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1						cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACAAAGCAGGAAAGGACACAC	0.617																																																0			3											69	73	72					3																	126220718		1568	3582	5150	127703408	SO:0001627	intron_variant	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.903-595T>C	3.37:g.126220718A>G			127703408	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	A	2.680	-0.275548	0.05679	.	.	ENSG00000159650	ENST00000383579	T	0.58506	0.33	1.12	-1.63	0.08345	.	5.642740	0.00567	N	0.000282	T	0.34337	0.0894	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.09684	-1.0663	10	0.28530	T	0.3	.	4.3354	0.11083	0.5024:0.0:0.4976:0.0	.	326	E9PE13	.	P	326	ENSP00000373073:S326P	ENSP00000373073:S326P	S	-	1	0	UROC1	127703408	0.000000	0.05858	0.008000	0.14137	0.025000	0.11179	-0.759000	0.04761	-0.565000	0.06061	-0.483000	0.04790	TCC		0.617	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		G	126220718	A	G	126220718	1	3	72	0	1	0	0	0	0	0	0	0	17028	246	9	4		4	UROC1	3	126220718	Intron	SNP	A	TCGA-13-0723-01A-02W-0372-09	20781755	126220718	71801712	11	3630											
SI	6476	genome.wustl.edu	37	3	164737512	164737512	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr3:164737512G>T	ENST00000264382.3	-	28	3363	c.3301C>A	c.(3301-3303)Caa>Aaa	p.Q1101K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1101	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.Q1101K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTCGATATTTGAATGAACTGG	0.373										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	ovary(1)	3											83	83	83					3																	164737512		2203	4299	6502	166220206	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3301C>A	3.37:g.164737512G>T	ENSP00000264382:p.Gln1101Lys		166220206	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674693	0.47781	.	.	ENSG00000090402	ENST00000264382	D	0.82711	-1.64	4.46	4.46	0.54185	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.87795	0.6267	M	0.92970	3.365	0.58432	D	0.999991	B	0.21147	0.052	B	0.24848	0.056	D	0.87885	0.2680	10	0.59425	D	0.04	.	17.305	0.87192	0.0:0.0:1.0:0.0	.	1101	P14410	SUIS_HUMAN	K	1101	ENSP00000264382:Q1101K	ENSP00000264382:Q1101K	Q	-	1	0	SI	166220206	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	8.963000	0.93385	2.293000	0.77203	0.591000	0.81541	CAA		0.373	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		T	164737512	G	T	164737512	3	4	72	1	0	0	0	0	1	0	0	0	14300	1299	45	3	2266	3	SI	3	164737512	Missense_Mutation	SNP	G	TCGA-13-0723-01A-02W-0372-09	38516794	164737512	33284918	12	3631											
TRIML1	339976	genome.wustl.edu	37	4	189068452	189068452	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr4:189068452T>A	ENST00000332517.3	+	6	1473	c.1333T>A	c.(1333-1335)Ttt>Att	p.F445I	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	445	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F445I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGGCCTATCTTTTCCCCCTG	0.557																																					Melanoma(31;213 1036 16579 23968 32372)											1	Substitution - Missense(1)	ovary(1)	4											72	74	73					4																	189068452		2203	4300	6503	189305446	SO:0001583	missense	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1333T>A	4.37:g.189068452T>A	ENSP00000327738:p.Phe445Ile		189305446	Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	t	13.84	2.358000	0.41801	.	.	ENSG00000184108	ENST00000332517	T	0.78003	-1.14	5.05	2.55	0.30701	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.53938	D	0.000060	T	0.77184	0.4093	M	0.90814	3.15	0.37341	D	0.910394	B	0.18968	0.032	B	0.23419	0.046	T	0.74349	-0.3694	10	0.87932	D	0	-17.6387	2.128	0.03743	0.161:0.0847:0.1686:0.5857	.	445	Q8N9V2	TRIML_HUMAN	I	445	ENSP00000327738:F445I	ENSP00000327738:F445I	F	+	1	0	TRIML1	189305446	1.000000	0.71417	0.509000	0.27700	0.004000	0.04260	3.590000	0.53979	0.475000	0.27415	-0.330000	0.08379	TTT		0.557	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		A	189068452	T	A	189068452	3	1	72	1	0	0	0	0	1	0	0	0	16550	1609	56	5	1355	5	TRIML1	4	189068452	Missense_Mutation	SNP	T	TCGA-13-0723-01A-02W-0372-09		189068452	2085824	13	3632											
GPR98	84059	genome.wustl.edu	37	5	89938502	89938502	+	Silent	SNP	C	C	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr5:89938502C>T	ENST00000405460.2	+	12	2386	c.2290C>T	c.(2290-2292)Cta>Tta	p.L764L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	764	Calx-beta 6. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L764L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGCCGTGACCTAATTATTTT	0.403																																																1	Substitution - coding silent(1)	ovary(1)	5											110	113	112					5																	89938502		1798	4069	5867	89974258	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2290C>T	5.37:g.89938502C>T			89974258	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010418	0.19277	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.09	-0.561	0.11785	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40156	-0.9578	4	.	.	.	.	5.42	0.16396	0.1814:0.5068:0.0:0.3118	.	.	.	.	L	352	.	.	P	+	2	0	GPR98	89974258	0.999000	0.42202	0.989000	0.46669	0.907000	0.53573	1.057000	0.30492	0.125000	0.18397	0.460000	0.39030	CCT		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89938502	C	T	89938502	2	4	72	1	0	0	0	0	0	0	0	1	6721	680	24	2		2	GPR98	5	89938502	Silent	SNP	C	TCGA-13-0723-01A-02W-0372-09		89938502	90976758	14	3633											
HIST1H2BC	8347	genome.wustl.edu	37	6	26124115	26124115	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr6:26124115C>A	ENST00000314332.5	-	1	23	c.18G>T	c.(16-18)aaG>aaT	p.K6N	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.K6N|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	6					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K6N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CGGGAGCAGACTTGGCTGGCT	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											86	86	86					6																	26124115		2203	4300	6503	26232094	SO:0001583	missense	8347			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.18G>T	6.37:g.26124115C>A	ENSP00000321744:p.Lys6Asn		26232094	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	16.32	3.091168	0.55968	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.19669	2.13;2.13	5.76	-0.484	0.12071	Histone-fold (2);	.	.	.	.	T	0.05502	0.0145	.	.	.	0.29303	N	0.86853	B	0.02656	0.0	B	0.01281	0.0	T	0.38023	-0.9680	8	0.87932	D	0	.	7.0603	0.25121	0.0:0.5492:0.1126:0.3382	.	6	P62807	H2B1C_HUMAN	N	6	ENSP00000321744:K6N;ENSP00000380180:K6N	ENSP00000321744:K6N	K	-	3	2	HIST1H2BC	26232094	0.010000	0.17322	0.988000	0.46212	0.860000	0.49131	-0.947000	0.03901	0.150000	0.19136	0.650000	0.86243	AAG		0.507	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		A	26124115	C	A	26124115	3	1	72	1	0	0	0	0	1	0	0	0	7142	564	20	3	366	3	HIST1H2BC	6	26124115	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09		26124115	144990952	15	3634											
PRSS16	10279	genome.wustl.edu	37	6	27216899	27216899	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr6:27216899C>T	ENST00000230582.3	+	4	373	c.358C>T	c.(358-360)Cca>Tca	p.P120S	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	120					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.P120S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGCCTTGGCCCCAGCCTGGGG	0.582																																					NSCLC(178;1118 2105 17078 23587 44429)											1	Substitution - Missense(1)	ovary(1)	6											53	58	57					6																	27216899		2203	4300	6503	27324878	SO:0001583	missense	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.358C>T	6.37:g.27216899C>T	ENSP00000230582:p.Pro120Ser		27324878	O75416	Missense_Mutation	SNP	ENST00000230582.3	37	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.563224|2.563224	0.45694|0.45694	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000230582;ENST00000343467;ENST00000348953	.|T	.|0.20200	.|2.09	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.519246|0.519246	0.19397|0.19397	N|N	0.115276|0.115276	T|T	0.25195|0.25195	0.0612|0.0612	L|L	0.53561|0.53561	1.675|1.675	0.32971|0.32971	D|D	0.522397|0.522397	.|D;D;P	.|0.59767	.|0.972;0.986;0.877	.|P;P;B	.|0.61328	.|0.85;0.887;0.372	T|T	0.01549|0.01549	-1.1327|-1.1327	6|10	.|0.35671	.|T	.|0.21	-20.1907|-20.1907	14.0762|14.0762	0.64891|0.64891	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|11;120;120	.|Q7Z5N6;C9JI59;Q9NQE7	.|.;.;TSSP_HUMAN	L|S	11|120	.|ENSP00000230582:P120S	.|ENSP00000230582:P120S	P|P	+|+	2|1	0|0	PRSS16|PRSS16	27324878|27324878	0.733000|0.733000	0.28132|0.28132	0.995000|0.995000	0.50966|0.50966	0.064000|0.064000	0.16182|0.16182	1.336000|1.336000	0.33850|0.33850	2.249000|2.249000	0.74217|0.74217	0.557000|0.557000	0.71058|0.71058	CCC|CCA		0.582	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			T	27216899	C	T	27216899	3	4	72	1	0	0	0	0	1	0	0	0	12619	623	22	2	372	2	PRSS16	6	27216899	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09	1092784	27216899	143898168	16	3635											
L3MBTL3	84456	genome.wustl.edu	37	6	130413937	130413937	+	Silent	SNP	A	A	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr6:130413937A>G	ENST00000529410.1	+	19	2045	c.1566A>G	c.(1564-1566)gcA>gcG	p.A522A	L3MBTL3_ENST00000526019.1_Silent_p.A497A|L3MBTL3_ENST00000533560.1_Silent_p.A497A|L3MBTL3_ENST00000368139.2_Silent_p.A497A|L3MBTL3_ENST00000368136.2_Silent_p.A522A|L3MBTL3_ENST00000361794.2_Silent_p.A522A			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	522					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A522A(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GGATAGATGCAGATTCTCCTG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	6											159	147	151					6																	130413937		2203	4300	6503	130455630	SO:0001819	synonymous_variant	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1566A>G	6.37:g.130413937A>G			130455630	Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	CCDS34537.1																																																																																				0.398	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		G	130413937	A	G	130413937	2	3	72	1	0	0	0	0	0	0	0	1	8593	175	7	4		4	L3MBTL3	6	130413937	Silent	SNP	A	TCGA-13-0723-01A-02W-0372-09	103197038	130413937	40701130	17	3636											
MAP3K4	4216	genome.wustl.edu	37	6	161513105	161513105	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr6:161513105A>G	ENST00000392142.4	+	13	3347	c.3199A>G	c.(3199-3201)Ata>Gta	p.I1067V	MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1067V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1067V|MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1067V	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1067					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.I1067V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGACAAATATATAAGCTTTGC	0.373																																																1	Substitution - Missense(1)	ovary(1)	6											197	209	205					6																	161513105		2203	4300	6503	161433095	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3199A>G	6.37:g.161513105A>G	ENSP00000375986:p.Ile1067Val		161433095	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293208	0.60086	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71698	-0.56;-0.43;-0.53;-0.59	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	L	0.33485	1.01	0.80722	D	1	B;B;P;D	0.65815	0.342;0.032;0.948;0.995	B;B;D;D	0.72338	0.239;0.019;0.949;0.977	T	0.64863	-0.6307	10	0.16420	T	0.52	-35.5656	16.5764	0.84681	1.0:0.0:0.0:0.0	.	1067;57;1067;1067	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	V	1067	ENSP00000355886:I1067V;ENSP00000375986:I1067V;ENSP00000355887:I1067V;ENSP00000297332:I1067V	ENSP00000297332:I1067V	I	+	1	0	MAP3K4	161433095	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	8.910000	0.92685	2.371000	0.80710	0.533000	0.62120	ATA		0.373	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			G	161513105	A	G	161513105	3	3	72	1	0	0	0	0	1	0	0	0	9252	449	16	4	3249	4	MAP3K4	6	161513105	Missense_Mutation	SNP	A	TCGA-13-0723-01A-02W-0372-09	31099168	161513105	9601962	18	3637											
NEUROD6	63974	genome.wustl.edu	37	7	31377934	31377934	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr7:31377934C>T	ENST00000297142.3	-	2	1271	c.949G>A	c.(949-951)Gac>Aac	p.D317N		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	317					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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 positive regulation of transcription (GO:0001077)	p.D317N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AGATGTAAGTCGTAAGGGAAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	7											82	80	81					7																	31377934		2203	4300	6503	31344459	SO:0001583	missense	63974			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.949G>A	7.37:g.31377934C>T	ENSP00000297142:p.Asp317Asn		31344459	Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255293	0.80135	.	.	ENSG00000164600	ENST00000297142	D	0.97209	-4.29	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	M	0.78637	2.42	0.80722	D	1	P	0.46952	0.887	B	0.38378	0.272	D	0.97184	0.9853	10	0.87932	D	0	-15.0027	18.5931	0.91222	0.0:1.0:0.0:0.0	.	317	Q96NK8	NDF6_HUMAN	N	317	ENSP00000297142:D317N	ENSP00000297142:D317N	D	-	1	0	NEUROD6	31344459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.386000	0.81285	0.650000	0.86243	GAC		0.453	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		T	31377934	C	T	31377934	3	4	72	1	0	0	0	0	1	0	0	0	10351	884	31	1	68	1	NEUROD6	7	31377934	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09		31377934	127760729	19	3638											
GAL3ST4	79690	genome.wustl.edu	37	7	99757778	99757778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr7:99757778C>A	ENST00000360039.4	-	4	1626	c.1234G>T	c.(1234-1236)Gag>Tag	p.E412*	GAL3ST4_ENST00000426974.2_Nonsense_Mutation_p.E350*|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000413800.1_Nonsense_Mutation_p.E412*|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	412					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.E412*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGAAGCCTCACCCCCTACC	0.592																																																1	Substitution - Nonsense(1)	ovary(1)	7											72	71	71					7																	99757778		2203	4300	6503	99595714	SO:0001587	stop_gained	79690			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1234G>T	7.37:g.99757778C>A	ENSP00000353142:p.Glu412*		99595714	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Nonsense_Mutation	SNP	ENST00000360039.4	37	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231327	0.79688	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	.	.	.	5.71	0.549	0.17213	.	0.529435	0.18937	U	0.127050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-13.8055	2.481	0.04587	0.1318:0.5151:0.1282:0.225	.	.	.	.	X	412;412;350	.	ENSP00000353142:E412X	E	-	1	0	GAL3ST4	99595714	0.059000	0.20769	0.979000	0.43373	0.644000	0.38419	0.154000	0.16343	0.078000	0.16900	-0.254000	0.11334	GAG		0.592	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		A	99757778	C	A	99757778	4	1	72	1	0	0	0	0	0	1	0	0	6200	835	29	3	230	3	GAL3ST4	7	99757778	Nonsense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09	68379844	99757778	59380885	20	3639											
ATP6V1F	9296	genome.wustl.edu	37	7	128505510	128505510	+	Missense_Mutation	SNP	G	G	A	rs73459264	byFrequency	TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr7:128505510G>A	ENST00000249289.4	+	2	317	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	RP11-309L24.4_ENST00000461420.1_lincRNA|ATP6V1F_ENST00000492758.1_Missense_Mutation_p.A108T|RP11-309L24.2_ENST00000469965.1_RNA	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	80					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.A80T(1)		lung(1)|ovary(1)|prostate(1)	3						TGCCCTGGACGCCCACCAGCA	0.592													G|||	21	0.00419329	0.0151	0.0014	5008	,	,		21143	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7						G	THR/ALA,THR/ALA	68,4338	61.7+/-98.7	0,68,2135	68	62	64		322,238	4.1	1	7	dbSNP_130	64	0,8600		0,0,4300	yes	missense,missense	ATP6V1F	NM_001198909.1,NM_004231.3	58,58	0,68,6435	AA,AG,GG		0.0,1.5433,0.5228	benign,benign	108/148,80/120	128505510	68,12938	2203	4300	6503	128292746	SO:0001583	missense	9296			D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"ATPases / V-type"	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.238G>A	7.37:g.128505510G>A	ENSP00000249289:p.Ala80Thr		128292746	C9J2K4|Q6IBA8	Missense_Mutation	SNP	ENST00000249289.4	37	CCDS5807.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	15.58	2.876064	0.51695	0.015433	0.0	ENSG00000128524	ENST00000249289;ENST00000492758	T;T	0.41758	0.99;0.99	5.02	4.1	0.47936	.	0.228496	0.43260	N	0.000597	T	0.18257	0.0438	L	0.41236	1.265	0.58432	D	0.999999	B	0.10296	0.003	B	0.18561	0.022	T	0.05435	-1.0885	10	0.13470	T	0.59	-16.0931	13.6632	0.62378	0.0:0.0:0.8446:0.1554	.	80	Q16864	VATF_HUMAN	T	80;108	ENSP00000249289:A80T;ENSP00000417378:A108T	ENSP00000249289:A80T	A	+	1	0	ATP6V1F	128292746	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	6.049000	0.71053	2.331000	0.79229	0.591000	0.81541	GCC		0.592	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	NM_004231		A	128505510	G	A	128505510	3	1	72	1	0	0	0	0	1	0	0	0	1185	1087	38	1	244	1	ATP6V1F	7	128505510	Missense_Mutation	SNP	G	TCGA-13-0723-01A-02W-0372-09	28747732	128505510	30633153	21	3640											
OR2F2	135948	genome.wustl.edu	37	7	143632549	143632549	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr7:143632549C>G	ENST00000408955.2	+	1	291	c.224C>G	c.(223-225)aCa>aGa	p.T75R		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T75R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCCTATGCCACAAGCGTAGTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	7											234	229	231					7																	143632549		2203	4300	6503	143263482	SO:0001583	missense	135948				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.224C>G	7.37:g.143632549C>G	ENSP00000386222:p.Thr75Arg		143263482	A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206605	0.39003	.	.	ENSG00000221910	ENST00000408955	T	0.02032	4.49	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.120635	0.37715	N	0.001965	T	0.13586	0.0329	M	0.91717	3.235	0.44685	D	0.997675	D	0.62365	0.991	P	0.61800	0.894	T	0.01834	-1.1264	10	0.87932	D	0	-14.9566	12.8566	0.57888	0.0:1.0:0.0:0.0	.	75	O95006	OR2F2_HUMAN	R	75	ENSP00000386222:T75R	ENSP00000386222:T75R	T	+	2	0	OR2F2	143263482	0.718000	0.27976	1.000000	0.80357	0.042000	0.13812	5.774000	0.68906	1.937000	0.56155	0.491000	0.48974	ACA		0.507	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			G	143632549	C	G	143632549	3	3	72	1	0	0	0	0	1	0	0	0	10997	478	17	3	226	3	OR2F2	7	143632549	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09	15127039	143632549	15506114	22	3641											
GRHL2	79977	genome.wustl.edu	37	8	102570843	102570844	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	-	-	-	T	-	-	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr8:102570843_102570844insT	ENST00000251808.3	+	4	819_820	c.481_482insT	c.(481-483)gaafs	p.E161fs	GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.E145fs	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	161					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E161fs*28(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGTGAAAGCTGAAGATTTCACA	0.53																																																1	Insertion - Frameshift(1)	ovary(1)	8																																								102640020	SO:0001589	frameshift_variant	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	Exception_encountered	8.37:g.102570843_102570844insT	ENSP00000251808:p.Glu161fs		102640019	A1L303|Q6NT03|Q9H8B8	Frame_Shift_Ins	INS	ENST00000251808.3	37	CCDS34931.1																																																																																				0.53	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		T	102570844	-	T	102570843	7	5	72	1	0	1	1	0	0	0	0	0	6764	1291	45	0	495	0	GRHL2	8	102570843	Frame_Shift_Ins	INS	-	TCGA-13-0723-01A-02W-0372-09		102570843	43793179	23	3642											
GBA2	57704	genome.wustl.edu	37	9	35740010	35740010	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr9:35740010G>A	ENST00000378103.3	-	8	1917	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L	GBA2_ENST00000378094.4_Missense_Mutation_p.P465L|GBA2_ENST00000545786.1_Missense_Mutation_p.P471L|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	465					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.P465L(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCCAATACCGGGCTCTGCCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	9											67	55	59					9																	35740010		2203	4300	6503	35730010	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1394C>T	9.37:g.35740010G>A	ENSP00000367343:p.Pro465Leu		35730010	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620900	0.87460	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.6	5.6	0.85130	Six-hairpin glycosidase-like (1);	0.114916	0.64402	D	0.000013	D	0.84911	0.5577	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.944;0.998	D	0.86528	0.1820	9	0.59425	D	0.04	-13.1326	17.7697	0.88487	0.0:0.0:1.0:0.0	.	471;465;465	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	L	465;465;471	.	ENSP00000367334:P465L	P	-	2	0	GBA2	35730010	1.000000	0.71417	0.971000	0.41717	0.951000	0.60555	9.038000	0.93771	2.798000	0.96311	0.650000	0.86243	CCG		0.562	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		A	35740010	G	A	35740010	3	1	72	1	0	0	0	0	1	0	0	0	6267	1116	39	1	1429	1	GBA2	9	35740010	Missense_Mutation	SNP	G	TCGA-13-0723-01A-02W-0372-09		35740010	105473421	24	3643											
TDRD7	23424	genome.wustl.edu	37	9	100237743	100237743	+	Nonsense_Mutation	SNP	C	C	T	rs375523180		TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr9:100237743C>T	ENST00000355295.4	+	12	2453	c.2158C>T	c.(2158-2160)Cga>Tga	p.R720*	TDRD7_ENST00000540902.1_Intron|TDRD7_ENST00000422139.2_Nonsense_Mutation_p.R646*	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	720	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.R720*(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAATGGTTACGAGTAGAGGT	0.323																																																1	Substitution - Nonsense(1)	ovary(1)	9						C	stop/ARG	0,4406		0,0,2203	98	86	90		2158	4.2	1	9		90	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	TDRD7	NM_014290.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		720/1099	100237743	1,13005	2203	4300	6503	99277564	SO:0001587	stop_gained	23424			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2158C>T	9.37:g.100237743C>T	ENSP00000347444:p.Arg720*		99277564	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Nonsense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	40	8.102932	0.98654	0.0	1.16E-4	ENSG00000196116	ENST00000355295;ENST00000422139	.	.	.	5.11	4.2	0.49525	.	0.056207	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9519	12.445	0.55645	0.1679:0.8321:0.0:0.0	.	.	.	.	X	720;646	.	ENSP00000347444:R720X	R	+	1	2	TDRD7	99277564	0.992000	0.36948	0.992000	0.48379	0.994000	0.84299	2.867000	0.48428	1.512000	0.48834	-0.182000	0.12963	CGA		0.323	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		T	100237743	C	T	100237743	4	4	72	1	0	0	0	0	0	1	0	0	15735	528	19	1	2200	1	TDRD7	9	100237743	Nonsense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09	64497733	100237743	40975688	25	3644											
DIP2C	22982	genome.wustl.edu	37	10	468810	468810	+	Silent	SNP	G	G	A	rs566293462	byFrequency	TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr10:468810G>A	ENST00000280886.6	-	5	645	c.558C>T	c.(556-558)agC>agT	p.S186S	DIP2C_ENST00000381496.3_Silent_p.S79S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	186						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S186S(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGCAGCCCCGCTGCCCCCGC	0.622													G|||	8	0.00159744	0	0	5008	,	,		17099	0		0	False		,,,				2504	0.0082															1	Substitution - coding silent(1)	ovary(1)	10											75	80	78					10																	468810		2203	4300	6503	458810	SO:0001819	synonymous_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.558C>T	10.37:g.468810G>A			458810	B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1																																																																																				0.622	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		A	468810	G	A	468810	2	1	72	1	0	0	0	0	0	0	0	1	4529	1078	38	1		1	DIP2C	10	468810	Silent	SNP	G	TCGA-13-0723-01A-02W-0372-09		468810	135065937	26	3645											
OR5T2	219464	genome.wustl.edu	37	11	56000395	56000395	+	Silent	SNP	A	A	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr11:56000395A>G	ENST00000313264.4	-	1	342	c.267T>C	c.(265-267)atT>atC	p.I89I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I89I(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GGGAATCCCTAATGACCACTA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	11											76	72	73					11																	56000395		2201	4296	6497	55756971	SO:0001819	synonymous_variant	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.267T>C	11.37:g.56000395A>G			55756971	B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	CCDS31523.1																																																																																				0.403	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		G	56000395	A	G	56000395	2	3	72	1	0	0	0	0	0	0	0	1	11182	358	13	4		4	OR5T2	11	56000395	Silent	SNP	A	TCGA-13-0723-01A-02W-0372-09		56000395	79006121	27	3646											
PDE3A	5139	genome.wustl.edu	37	12	20803391	20803391	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr12:20803391G>T	ENST00000359062.3	+	14	2822	c.2782G>T	c.(2782-2784)Gtt>Ttt	p.V928F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	928	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.V928F(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AAATGATGATGTTGGAATAGA	0.299																																																1	Substitution - Missense(1)	ovary(1)	12											138	136	137					12																	20803391		2203	4300	6503	20694658	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2782G>T	12.37:g.20803391G>T	ENSP00000351957:p.Val928Phe		20694658	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363008	0.61403	.	.	ENSG00000172572	ENST00000359062	T	0.81247	-1.47	5.78	5.78	0.91487	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.543564	0.18655	N	0.134884	D	0.83101	0.5181	N	0.20685	0.6	0.23070	N	0.998346	D	0.71674	0.998	D	0.65874	0.939	T	0.76334	-0.2997	10	0.38643	T	0.18	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	928	Q14432	PDE3A_HUMAN	F	928	ENSP00000351957:V928F	ENSP00000351957:V928F	V	+	1	0	PDE3A	20694658	0.461000	0.25783	0.973000	0.42090	0.957000	0.61999	3.546000	0.53656	2.730000	0.93505	0.655000	0.94253	GTT		0.299	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20803391	G	T	20803391	3	4	72	1	0	0	0	0	1	0	0	0	11637	1377	48	3	2836	3	PDE3A	12	20803391	Missense_Mutation	SNP	G	TCGA-13-0723-01A-02W-0372-09		20803391	113048504	28	3647											
KRT72	140807	genome.wustl.edu	37	12	52981485	52981485	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr12:52981485C>T	ENST00000537672.2	-	7	1250	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M	KRT72_ENST00000293745.2_Missense_Mutation_p.V414M|KRT72_ENST00000398066.3_Missense_Mutation_p.V226M|KRT72_ENST00000354310.4_Missense_Mutation_p.V372M	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	414	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V414M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTCAGGCTCACGAGCTCCTGG	0.652																																																1	Substitution - Missense(1)	ovary(1)	12											116	106	109					12																	52981485		2203	4300	6503	51267752	SO:0001583	missense	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1240G>A	12.37:g.52981485C>T	ENSP00000441160:p.Val414Met		51267752	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	2.780	-0.253734	0.05829	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	4.92	-4.68	0.03309	Filament (1);	0.571235	0.16550	N	0.209542	T	0.31358	0.0794	N	0.00003	-3.475	0.20764	N	0.999854	B;B	0.06786	0.001;0.001	B;B	0.08055	0.0;0.003	T	0.65389	-0.6180	10	0.02654	T	1	.	4.1478	0.10224	0.1866:0.0619:0.3968:0.3547	.	372;414	B4DEI8;Q14CN4	.;K2C72_HUMAN	M	414;414;372;226	ENSP00000441160:V414M;ENSP00000293745:V414M;ENSP00000346269:V372M;ENSP00000446151:V226M	ENSP00000293745:V414M	V	-	1	0	KRT72	51267752	0.000000	0.05858	0.003000	0.11579	0.994000	0.84299	-0.257000	0.08745	-0.937000	0.03719	-0.295000	0.09555	GTG		0.652	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		T	52981485	C	T	52981485	3	4	72	1	0	0	0	0	1	0	0	0	8485	536	19	1	307	1	KRT72	12	52981485	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09	32178094	52981485	80870410	29	3648											
GLI1	2735	genome.wustl.edu	37	12	57864433	57864433	+	Missense_Mutation	SNP	G	G	A	rs538595523		TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr12:57864433G>A	ENST00000228682.2	+	12	2001	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	GLI1_ENST00000546141.1_Missense_Mutation_p.R596Q|GLI1_ENST00000543426.1_Missense_Mutation_p.R509Q	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	637					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.R637Q(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGGTCACCCGGAGGGCCAGT	0.617													G|||	1	0.000199681	0	0	5008	,	,		17217	0		0.001	False		,,,				2504	0				Pancreas(157;841 1936 10503 41495 50368)											2	Substitution - Missense(2)	ovary(1)|endometrium(1)	12											38	39	39					12																	57864433		2203	4300	6503	56150700	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1910G>A	12.37:g.57864433G>A	ENSP00000228682:p.Arg637Gln		56150700	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012751	0.75161	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.56275	0.47;0.53;0.51;0.51	4.39	4.39	0.52855	.	0.000000	0.41823	D	0.000808	T	0.68174	0.2972	M	0.67569	2.06	0.53005	D	0.999967	D	0.89917	1.0	P	0.62382	0.901	T	0.73065	-0.4100	10	0.87932	D	0	.	16.266	0.82579	0.0:0.0:1.0:0.0	.	637	P08151	GLI1_HUMAN	Q	509;637;596;596	ENSP00000437607:R509Q;ENSP00000228682:R637Q;ENSP00000441006:R596Q;ENSP00000434408:R596Q	ENSP00000228682:R637Q	R	+	2	0	GLI1	56150700	0.993000	0.37304	1.000000	0.80357	0.975000	0.68041	6.230000	0.72301	2.436000	0.82500	0.491000	0.48974	CGG		0.617	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		A	57864433	G	A	57864433	3	1	72	1	0	0	0	0	1	0	0	0	6437	1116	39	1	1952	1	GLI1	12	57864433	Missense_Mutation	SNP	G	TCGA-13-0723-01A-02W-0372-09	4882948	57864433	75987462	30	3649											
MRPL42	28977	genome.wustl.edu	37	12	93881354	93881354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr12:93881354G>T	ENST00000549982.1	+	5	462	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	MRPL42_ENST00000361630.2_Nonsense_Mutation_p.E101*|MRPL42_ENST00000552217.1_Nonsense_Mutation_p.E101*|MRPL42_ENST00000547098.1_Nonsense_Mutation_p.E101*|MRPL42_ENST00000548545.1_Nonsense_Mutation_p.E101*|MRPL42_ENST00000393128.4_Nonsense_Mutation_p.E101*	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	101					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E101*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						AGAAAAAGTTGAACACCTTGA	0.383																																																1	Substitution - Nonsense(1)	ovary(1)	12											140	127	131					12																	93881354		2203	4300	6503	92405485	SO:0001587	stop_gained	28977			AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"Mitochondrial ribosomal proteins / large subunits", "Mitochondrial ribosomal proteins / small subunits"	14493	protein-coding gene	gene with protein product	"mitochondrial ribosomal protein S32"	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.301G>T	12.37:g.93881354G>T	ENSP00000449884:p.Glu101*		92405485	Q6FID1|Q96Q48|Q9P0S1	Nonsense_Mutation	SNP	ENST00000549982.1	37	CCDS9045.1	.	.	.	.	.	.	.	.	.	.	G	8.796	0.931728	0.18131	.	.	ENSG00000198015	ENST00000549982;ENST00000361630;ENST00000552217;ENST00000393128	.	.	.	4.84	1.3	0.21679	.	1.372640	0.04681	N	0.412341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3081	4.7694	0.13148	0.3108:0.4311:0.2581:0.0	.	.	.	.	X	101	.	ENSP00000355202:E101X	E	+	1	0	MRPL42	92405485	0.853000	0.29707	0.001000	0.08648	0.007000	0.05969	1.683000	0.37638	0.509000	0.28195	0.591000	0.81541	GAA		0.383	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407715.1	NM_014050		T	93881354	G	T	93881354	4	4	72	1	0	0	0	0	0	1	0	0	9806	1291	45	3	339	3	MRPL42	12	93881354	Nonsense_Mutation	SNP	G	TCGA-13-0723-01A-02W-0372-09	36016921	93881354	39970541	31	3650											
TBX5	6910	genome.wustl.edu	37	12	114793647	114793647	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr12:114793647T>A	ENST00000310346.4	-	9	1913	c.1247A>T	c.(1246-1248)cAg>cTg	p.Q416L	TBX5_ENST00000405440.2_Missense_Mutation_p.Q416L|TBX5_ENST00000349716.5_Missense_Mutation_p.Q366L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	416					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q416L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTCCATGGGCTGCACGGTGGT	0.657																																					NSCLC(152;1358 1980 4050 23898 40356)											1	Substitution - Missense(1)	ovary(1)	12											45	39	41					12																	114793647		2202	4300	6502	113278030	SO:0001583	missense	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1247A>T	12.37:g.114793647T>A	ENSP00000309913:p.Gln416Leu		113278030	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.948817	0.73787	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.48836	0.8;0.8;0.8	4.99	4.99	0.66335	.	0.059699	0.64402	D	0.000002	T	0.43523	0.1251	M	0.72894	2.215	0.80722	D	1	P	0.38922	0.651	B	0.24974	0.057	T	0.51356	-0.8716	10	0.49607	T	0.09	.	14.7159	0.69269	0.0:0.0:0.0:1.0	.	416	Q99593	TBX5_HUMAN	L	366;416;313;416	ENSP00000337723:Q366L;ENSP00000309913:Q416L;ENSP00000384152:Q416L	ENSP00000309913:Q416L	Q	-	2	0	TBX5	113278030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	1.883000	0.54544	0.533000	0.62120	CAG		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		A	114793647	T	A	114793647	3	1	72	1	0	0	0	0	1	0	0	0	15661	1580	55	5	313	5	TBX5	12	114793647	Missense_Mutation	SNP	T	TCGA-13-0723-01A-02W-0372-09	20912293	114793647	19058248	32	3651											
FREM2	341640	genome.wustl.edu	37	13	39430279	39430279	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr13:39430279A>T	ENST00000280481.7	+	12	7158	c.6942A>T	c.(6940-6942)gaA>gaT	p.E2314D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2314	Calx-beta 5.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2314D(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTTAAGGAAGGGGAAACCC	0.338																																																1	Substitution - Missense(1)	ovary(1)	13											70	71	71					13																	39430279		2203	4300	6503	38328279	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6942A>T	13.37:g.39430279A>T	ENSP00000280481:p.Glu2314Asp		38328279	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307342	0.60305	.	.	ENSG00000150893	ENST00000280481	T	0.29655	1.56	5.98	-2.17	0.07059	Na-Ca exchanger/integrin-beta4 (2);	0.111469	0.64402	D	0.000013	T	0.33818	0.0876	L	0.49571	1.57	0.48341	D	0.999635	P;P	0.48764	0.915;0.775	P;P	0.49999	0.628;0.524	T	0.23226	-1.0194	10	0.48119	T	0.1	.	13.9809	0.64304	0.4776:0.0:0.5224:0.0	.	2314;2314	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	D	2314	ENSP00000280481:E2314D	ENSP00000280481:E2314D	E	+	3	2	FREM2	38328279	0.767000	0.28508	0.992000	0.48379	0.923000	0.55619	-0.031000	0.12287	-0.283000	0.09115	-0.256000	0.11100	GAA		0.338	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39430279	A	T	39430279	3	4	72	1	0	0	0	0	1	0	0	0	6045	69	3	5	6988	5	FREM2	13	39430279	Missense_Mutation	SNP	A	TCGA-13-0723-01A-02W-0372-09		39430279	75739599	33	3652											
ARHGEF7	8874	genome.wustl.edu	37	13	111938519	111938519	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr13:111938519T>G	ENST00000375741.2	+	18	2289	c.2039T>G	c.(2038-2040)aTg>aGg	p.M680R	ARHGEF7_ENST00000375739.2_Missense_Mutation_p.M630R|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.M502R|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.M659R|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.M502R|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.M424R|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.M587R|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.M577R|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.M502R|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.M502R	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	680					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M659R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCTAAGACCATGAAAAAGCTG	0.488																																																1	Substitution - Missense(1)	ovary(1)	13											87	83	84					13																	111938519		2203	4300	6503	110736520	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.2039T>G	13.37:g.111938519T>G	ENSP00000364893:p.Met680Arg		110736520	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063935	0.76187	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T	0.63255	0.57;0.56;0.56;0.62;0.56;0.63;0.63;0.66;0.52;-0.03	4.6	4.6	0.57074	.	0.046249	0.85682	D	0.000000	T	0.67011	0.2848	L	0.44542	1.39	0.80722	D	1	P;P;D;D;P;D	0.55800	0.57;0.57;0.973;0.973;0.955;0.973	B;B;P;P;P;P	0.61800	0.339;0.317;0.894;0.735;0.786;0.848	T	0.61950	-0.6957	10	0.14252	T	0.57	.	14.0037	0.64449	0.0:0.0:0.0:1.0	.	424;577;502;630;680;659	E9PDQ5;B7Z6G2;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	R	659;680;630;587;657;502;502;502;577;502;424	ENSP00000325994:M659R;ENSP00000364893:M680R;ENSP00000364891:M630R;ENSP00000359657:M587R;ENSP00000218789:M502R;ENSP00000364888:M502R;ENSP00000397068:M502R;ENSP00000364889:M577R;ENSP00000364875:M502R;ENSP00000417596:M424R	ENSP00000218789:M502R	M	+	2	0	ARHGEF7	110736520	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.244000	0.78228	1.707000	0.51288	0.459000	0.35465	ATG		0.488	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		G	111938519	T	G	111938519	3	3	72	1	0	0	0	0	1	0	0	0	911	1464	51	5	2109	5	ARHGEF7	13	111938519	Missense_Mutation	SNP	T	TCGA-13-0723-01A-02W-0372-09	72508240	111938519	3231359	34	3653											
ASGR2	433	genome.wustl.edu	37	17	7005424	7005424	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr17:7005424T>C	ENST00000380952.2	-	8	1019	c.755A>G	c.(754-756)tAt>tGt	p.Y252C	ASGR2_ENST00000254850.7_Missense_Mutation_p.Y228C|ASGR2_ENST00000355035.5_Missense_Mutation_p.Y252C|ASGR2_ENST00000446679.2_Missense_Mutation_p.Y233C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	252	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)	p.Y252C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GTTGTGCCTATAGTCTGTGCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											347	327	334					17																	7005424		2203	4300	6503	6946148	SO:0001583	missense	433			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.755A>G	17.37:g.7005424T>C	ENSP00000370339:p.Tyr252Cys		6946148	A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.559845	0.45590	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	4.41	4.41	0.53225	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.40222	N	0.001146	T	0.44074	0.1276	M	0.86805	2.84	0.09310	N	1	D;D;D;D;D	0.89917	0.996;1.0;0.999;0.999;1.0	D;D;D;D;D	0.79108	0.917;0.992;0.982;0.979;0.992	T	0.36720	-0.9736	10	0.87932	D	0	.	10.3776	0.44092	0.0:0.0:0.0:1.0	.	228;252;247;233;252	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	C	252;228;252;233	ENSP00000347140:Y252C;ENSP00000254850:Y228C;ENSP00000370339:Y252C;ENSP00000405844:Y233C	ENSP00000254850:Y228C	Y	-	2	0	ASGR2	6946148	0.960000	0.32886	0.024000	0.17045	0.072000	0.16883	3.965000	0.56788	2.222000	0.72286	0.529000	0.55759	TAT		0.498	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		C	7005424	T	C	7005424	3	2	72	1	0	0	0	0	1	0	0	0	1040	1406	49	4	188	4	ASGR2	17	7005424	Missense_Mutation	SNP	T	TCGA-13-0723-01A-02W-0372-09		7005424	74189786	35	3654											
GPR142	350383	genome.wustl.edu	37	17	72368575	72368575	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr17:72368575G>A	ENST00000335666.4	+	4	1273	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	409						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A409T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCACACGGCAGCCAACTTCGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											95	79	85					17																	72368575		2203	4300	6503	69880170	SO:0001583	missense	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1225G>A	17.37:g.72368575G>A	ENSP00000335158:p.Ala409Thr		69880170	A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115150	0.20795	.	.	ENSG00000257008	ENST00000335666	T	0.37752	1.18	4.55	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.293110	0.32970	N	0.005432	T	0.19406	0.0466	N	0.08118	0	0.22266	N	0.999241	B;P	0.47545	0.042;0.897	B;P	0.45946	0.061;0.498	T	0.07443	-1.0772	10	0.66056	D	0.02	-22.1444	5.0452	0.14480	0.0826:0.334:0.4537:0.1297	.	409;1371	Q7Z601;Q8NGB0	GP142_HUMAN;.	T	409	ENSP00000335158:A409T	ENSP00000335158:A409T	A	+	1	0	GPR142	69880170	0.026000	0.19158	0.514000	0.27761	0.021000	0.10359	0.238000	0.18004	0.578000	0.29487	0.556000	0.70494	GCC		0.602	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		A	72368575	G	A	72368575	3	1	72	1	0	0	0	0	1	0	0	0	6650	971	34	2	1239	2	GPR142	17	72368575	Missense_Mutation	SNP	G	TCGA-13-0723-01A-02W-0372-09	65363151	72368575	8826635	36	3655											
NFATC1	4772	genome.wustl.edu	37	18	77193581	77193581	+	Missense_Mutation	SNP	C	C	T	rs201990048		TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr18:77193581C>T	ENST00000427363.2	+	3	1229	c.1229C>T	c.(1228-1230)cCg>cTg	p.P410L	NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.P410L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P410L|NFATC1_ENST00000591814.1_Missense_Mutation_p.P410L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P397L|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000253506.5_Missense_Mutation_p.P410L|NFATC1_ENST00000586434.1_Missense_Mutation_p.P397L|NFATC1_ENST00000318065.5_Missense_Mutation_p.P397L|NFATC1_ENST00000592223.1_Missense_Mutation_p.P397L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	410	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P397L(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCTTCCAGCCCGACCCTGCCC	0.667																																					GBM(151;1210 2593 28719 45011)											1	Substitution - Missense(1)	ovary(1)	18											80	84	82					18																	77193581		2203	4300	6503	75294569	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1229C>T	18.37:g.77193581C>T	ENSP00000389377:p.Pro410Leu		75294569	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	12.34	1.909603	0.33721	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.14266	2.92;2.52;2.72	4.6	4.6	0.57074	Rel homology (1);	0.111065	0.64402	D	0.000007	T	0.11367	0.0277	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B;B;B	0.31859	0.311;0.311;0.049;0.181;0.181;0.343;0.049	B;B;B;B;B;B;B	0.18871	0.015;0.015;0.016;0.018;0.018;0.023;0.016	T	0.08310	-1.0728	10	0.62326	D	0.03	-24.2885	17.4139	0.87494	0.0:1.0:0.0:0.0	.	397;397;410;410;410;397;410	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	410;410;410;397;397;374	ENSP00000253506:P410L;ENSP00000442435:P410L;ENSP00000327850:P397L	ENSP00000253506:P410L	P	+	2	0	NFATC1	75294569	1.000000	0.71417	0.920000	0.36463	0.096000	0.18686	5.508000	0.67006	2.097000	0.63578	0.561000	0.74099	CCG		0.667	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		T	77193581	C	T	77193581	3	4	72	1	0	0	0	0	1	0	0	0	10361	652	23	1	1331	1	NFATC1	18	77193581	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09		77193581	883667	37	3656											
ARHGEF1	9138	genome.wustl.edu	37	19	42398330	42398330	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr19:42398330G>A	ENST00000354532.3	+	9	843	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R247Q|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R232Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R214Q|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R199Q	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	232	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R247Q(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTTGGGGTGCGGACCAAGAGT	0.582																																																1	Substitution - Missense(1)	ovary(1)	19											102	66	78					19																	42398330		2203	4299	6502	47090170	SO:0001583	missense	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.695G>A	19.37:g.42398330G>A	ENSP00000346532:p.Arg232Gln		47090170	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606890	0.66558	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	3.95	3.95	0.45737	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.161221	0.42821	D	0.000641	T	0.76863	0.4047	L	0.52573	1.65	0.31066	N	0.713528	P;B;P;B;D	0.64830	0.604;0.313;0.489;0.363;0.994	B;B;B;B;B	0.43194	0.103;0.024;0.199;0.041;0.411	T	0.80016	-0.1559	10	0.72032	D	0.01	-22.2261	7.7148	0.28698	0.1159:0.0:0.8841:0.0	.	214;247;199;232;292	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	Q	232;199;268;247;214	ENSP00000346532:R232Q;ENSP00000344429:R199Q;ENSP00000337261:R247Q;ENSP00000367394:R214Q	ENSP00000323044:R268Q	R	+	2	0	ARHGEF1	47090170	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.086000	0.41643	2.206000	0.71126	0.492000	0.49549	CGG		0.582	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		A	42398330	G	A	42398330	3	1	72	1	0	0	0	0	1	0	0	0	893	1116	39	1	774	1	ARHGEF1	19	42398330	Missense_Mutation	SNP	G	TCGA-13-0723-01A-02W-0372-09		42398330	16730653	38	3657											
EHD2	30846	genome.wustl.edu	37	19	48244158	48244158	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr19:48244158C>G	ENST00000263277.3	+	6	1352	c.1101C>G	c.(1099-1101)gaC>gaG	p.D367E	EHD2_ENST00000538399.1_Missense_Mutation_p.D231E|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	367					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.D367E(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGGCGCACGACTTCACCAAGT	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											36	30	32					19																	48244158		2203	4300	6503	52935970	SO:0001583	missense	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1101C>G	19.37:g.48244158C>G	ENSP00000263277:p.Asp367Glu		52935970	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765825	0.69878	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399;ENST00000454483;ENST00000540884	T;T	0.26660	2.05;1.72	3.99	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	M	0.84156	2.68	0.58432	D	0.999995	P	0.51791	0.948	P	0.46885	0.53	T	0.44298	-0.9337	10	0.66056	D	0.02	-40.8872	10.2318	0.43260	0.0:0.8903:0.0:0.1097	.	367	Q9NZN4	EHD2_HUMAN	E	367;367;357;231;50;50	ENSP00000263277:D367E;ENSP00000439036:D231E	ENSP00000263277:D367E	D	+	3	2	EHD2	52935970	0.997000	0.39634	1.000000	0.80357	0.951000	0.60555	0.533000	0.23082	1.930000	0.55929	0.561000	0.74099	GAC		0.622	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			G	48244158	C	G	48244158	3	3	72	1	0	0	0	0	1	0	0	0	4978	564	20	3	1119	3	EHD2	19	48244158	Missense_Mutation	SNP	C	TCGA-13-0723-01A-02W-0372-09	5845828	48244158	10884825	39	3658											
C20orf185	359710	genome.wustl.edu	37	20	31659911	31659911	+	Splice_Site	SNP	G	G	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr20:31659911G>A	ENST00000375494.3	+	13	1262	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	421					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.G421E(1)									CTGTTGCAGGGATCGCGTTTA	0.577																																																1	Substitution - Missense(1)	ovary(1)	20											183	126	145					20																	31659911		2203	4300	6503	31123572	SO:0001630	splice_region_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1261-1G>A	20.37:g.31659911G>A			31123572	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	4.974	0.180896	0.09443	.	.	ENSG00000186190	ENST00000375494	T	0.08102	3.13	4.32	-1.51	0.08664	.	0.729658	0.12172	N	0.492896	T	0.01730	0.0055	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43540	-0.9385	10	0.27785	T	0.31	-2.379	0.4444	0.00491	0.1908:0.3071:0.1685:0.3336	.	421	P59826	BPIB3_HUMAN	E	421	ENSP00000364643:G421E	ENSP00000364643:G421E	G	+	2	0	BPIFB3	31123572	0.003000	0.15002	0.058000	0.19502	0.000000	0.00434	-0.476000	0.06591	-0.130000	0.11599	-2.241000	0.00287	GGA		0.577	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	Missense_Mutation	A	31659911	G	A	31659911	5	1	72	1	0	0	0	0	0	0	1	0	2097	1188	41	2	1312	2	C20orf185	20	31659911	Splice_Site	SNP	G	TCGA-13-0723-01A-02W-0372-09		31659911	31365609	40	3659											
DSCR4	10281	genome.wustl.edu	37	21	39426984	39426984	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr21:39426984T>C	ENST00000328264.3	-	3	426	c.322A>G	c.(322-324)Agg>Ggg	p.R108G	DSCR4_ENST00000398948.1_Intron	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	108								p.R108G(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						TGCTTGTCCCTTCTCCCATCT	0.483																																																1	Substitution - Missense(1)	ovary(1)	21											337	254	282					21																	39426984		2203	4300	6503	38348854	SO:0001583	missense	10281			AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000328264.3:c.322A>G	21.37:g.39426984T>C	ENSP00000328676:p.Arg108Gly		38348854	Q4VB31	Missense_Mutation	SNP	ENST00000328264.3	37	CCDS33554.1	.	.	.	.	.	.	.	.	.	.	T	6.817	0.519914	0.13005	.	.	ENSG00000184029	ENST00000328264	.	.	.	3.5	-0.364	0.12553	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.22753	0.041	T	0.27706	-1.0066	7	0.87932	D	0	.	3.3689	0.07213	0.0:0.2303:0.2054:0.5643	.	108	P56555	DSCR4_HUMAN	G	108	.	ENSP00000328676:R108G	R	-	1	2	DSCR4	38348854	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.180000	0.09754	-0.069000	0.12931	0.460000	0.39030	AGG		0.483	DSCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000194834.1	NM_005867		C	39426984	T	C	39426984	3	2	72	1	0	0	0	0	1	0	0	0	4772	1608	56	4	38	4	DSCR4	21	39426984	Missense_Mutation	SNP	T	TCGA-13-0723-01A-02W-0372-09		39426984	8702911	41	3660											
CABIN1	23523	genome.wustl.edu	37	22	24530285	24530285	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0723-01A-02W-0372-09	TCGA-13-0723-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6f9e5a76-5d2a-4bb0-babf-3f365a177236	676ce788-9f4c-476e-8145-2f8835d2a163	g.chr22:24530285G>A	ENST00000398319.2	+	29	5034	c.4649G>A	c.(4648-4650)cGc>cAc	p.R1550H	CABIN1_ENST00000405822.2_Missense_Mutation_p.R1471H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1550H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1550					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R1550H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGTGGGCCCGCGACGTGTTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	22											55	48	50					22																	24530285		2203	4300	6503	22860285	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4649G>A	22.37:g.24530285G>A	ENSP00000381364:p.Arg1550His		22860285	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085707	0.94100	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.70164	-0.12;-0.46;-0.12	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.82287	-0.0532	10	0.72032	D	0.01	.	16.2606	0.82541	0.0:0.0:1.0:0.0	.	1471;1550	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	H	1550;1471;1550	ENSP00000263119:R1550H;ENSP00000384694:R1471H;ENSP00000381364:R1550H	ENSP00000263119:R1550H	R	+	2	0	CABIN1	22860285	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.457000	0.97630	2.522000	0.85027	0.460000	0.39030	CGC		0.592	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24530285	G	A	24530285	3	1	72	1	0	0	0	0	1	0	0	0	2528	1087	38	1	4759	1	CABIN1	22	24530285	Missense_Mutation	SNP	G	TCGA-13-0723-01A-02W-0372-09		24530285	26774281	42	3661											
SDC3	9672	genome.wustl.edu	37	1	31349816	31349816	+	Silent	SNP	C	C	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr1:31349816C>T	ENST00000339394.6	-	3	627	c.453G>A	c.(451-453)gaG>gaA	p.E151E	SDC3_ENST00000336798.7_Silent_p.E93E|SDC3_ENST00000471567.1_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	151	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E151E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCTGGGCTCTTCCGGGA	0.647																																																1	Substitution - coding silent(1)	ovary(1)	1											35	37	36					1																	31349816		2203	4300	6503	31122403	SO:0001819	synonymous_variant	9672			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.453G>A	1.37:g.31349816C>T			31122403	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Silent	SNP	ENST00000339394.6	37	CCDS30661.1																																																																																				0.647	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		T	31349816	C	T	31349816	2	4	73	1	0	0	0	0	0	0	0	1	13956	796	28	2		2	SDC3	1	31349816	Silent	SNP	C	TCGA-13-0724-01A-01W-0372-09		31349816	217900805	1	3662											
DPYD	1806	genome.wustl.edu	37	1	98157280	98157280	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	A	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr1:98157280C>A	ENST00000370192.3	-	7	855	c.755G>T	c.(754-756)gGt>gTt	p.G252V	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	252					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.G252V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TACCTTTACACCAAGGTCCTT	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											101	102	102					1																	98157280		2203	4300	6503	97929868	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.755G>T	1.37:g.98157280C>A	ENSP00000359211:p.Gly252Val		97929868	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750245	0.89753	.	.	ENSG00000188641	ENST00000370192	D	0.96334	-3.98	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.99080	0.9684	H	0.99238	4.48	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.99150	1.0858	10	0.87932	D	0	-16.9303	18.7184	0.91685	0.0:1.0:0.0:0.0	.	252	Q12882	DPYD_HUMAN	V	252	ENSP00000359211:G252V	ENSP00000359211:G252V	G	-	2	0	DPYD	97929868	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.707000	0.68370	2.497000	0.84241	0.460000	0.39030	GGT		0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		A	98157280	C	A	98157280	3	1	73	1	0	0	0	0	1	0	0	0	4745	507	18	3	2390	3	DPYD	1	98157280	Missense_Mutation	SNP	C	TCGA-13-0724-01A-01W-0372-09	66807464	98157280	151093341	2	3663											
PHTF1	10745	genome.wustl.edu	37	1	114249243	114249243	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr1:114249243C>A	ENST00000369604.1	-	12	1854	c.1371G>T	c.(1369-1371)ttG>ttT	p.L457F	PHTF1_ENST00000369596.2_Missense_Mutation_p.L404F|PHTF1_ENST00000369600.1_Missense_Mutation_p.L404F|PHTF1_ENST00000369598.1_Missense_Mutation_p.L412F|PHTF1_ENST00000393357.2_Missense_Mutation_p.L457F|PHTF1_ENST00000357783.2_Missense_Mutation_p.L457F|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	457					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L457F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTTATTTCCAACACAGACA	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											158	152	154					1																	114249243		2203	4300	6503	114050766	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1371G>T	1.37:g.114249243C>A	ENSP00000358617:p.Leu457Phe		114050766	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.705043|4.705043	0.88924|0.88924	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.75|5.75	4.83|4.83	0.62350|0.62350	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.66548|0.66548	0.2800|0.2800	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.68957|0.68957	-0.5272|-0.5272	9|5	0.87932|.	D|.	0|.	-14.0675|-14.0675	15.155|15.155	0.72733|0.72733	0.0:0.9314:0.0:0.0686|0.0:0.9314:0.0:0.0686	.|.	457;212;457|.	Q9UMS5;Q5TCR1;Q9UMS5-2|.	PHTF1_HUMAN;.;.|.	F|L	412;457;404;412;404;457;457|213	.|.	ENSP00000350428:L457F|.	L|W	-|-	3|2	2|0	PHTF1|PHTF1	114050766|114050766	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.989000|0.989000	0.77384|0.77384	4.085000|4.085000	0.57657|0.57657	1.406000|1.406000	0.46857|0.46857	0.585000|0.585000	0.79938|0.79938	TTG|TGG		0.363	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		A	114249243	C	A	114249243	3	1	73	1	0	0	0	0	1	0	0	0	11862	593	21	3	949	3	PHTF1	1	114249243	Missense_Mutation	SNP	C	TCGA-13-0724-01A-01W-0372-09	16091963	114249243	135001378	3	3664											
FMO5	2330	genome.wustl.edu	37	1	146696572	146696572	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	T	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr1:146696572G>T	ENST00000254090.4	-	2	438	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	FMO5_ENST00000369272.3_Missense_Mutation_p.S17Y|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000441068.2_Missense_Mutation_p.S17Y	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	17						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.S17Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTTGATGGAAGAGAGCCCGCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											146	136	139					1																	146696572		2203	4300	6503	145163196	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.50C>A	1.37:g.146696572G>T	ENSP00000254090:p.Ser17Tyr		145163196	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	CCDS926.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482896	0.63962	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272;ENST00000533174;ENST00000533848	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.37	-1.06	0.10002	.	1.866590	0.02188	N	0.061105	T	0.57681	0.2070	M	0.77103	2.36	0.09310	N	1	P;P;P;P	0.52061	0.858;0.779;0.767;0.95	P;P;P;P	0.53266	0.617;0.516;0.516;0.722	T	0.55289	-0.8164	10	0.87932	D	0	-0.9958	11.7871	0.52049	0.0778:0.5325:0.3897:0.0	.	17;17;17;17	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	Y	17	ENSP00000416011:S17Y;ENSP00000254090:S17Y;ENSP00000358277:S17Y;ENSP00000436429:S17Y;ENSP00000432569:S17Y	ENSP00000254090:S17Y	S	-	2	0	FMO5	145163196	0.062000	0.20869	0.000000	0.03702	0.947000	0.59692	2.580000	0.46068	0.024000	0.15214	0.650000	0.86243	TCT		0.502	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		T	146696572	G	T	146696572	3	4	73	1	0	0	0	0	1	0	0	0	5958	942	33	3	1726	3	FMO5	1	146696572	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09	32447329	146696572	102554049	4	3665											
BCL9	607	genome.wustl.edu	37	1	147091720	147091720	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	G	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	Sanger_PCR_WGA		dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr1:147091720C>G	ENST00000234739.3	+	8	2499	c.1759C>G	c.(1759-1761)Ctt>Gtt	p.L587V		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	587	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.L587V(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TAGACCAGGTCTTTCTGGAGT	0.547			T	"IGH@, IGL@"	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	1	Substitution - Missense(1)	ovary(1)	1											83	91	88					1																	147091720		2203	4300	6503	145558344	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1759C>G	1.37:g.147091720C>G	ENSP00000234739:p.Leu587Val		145558344	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889876	0.52014	.	.	ENSG00000116128	ENST00000234739	T	0.49139	0.79	5.41	5.41	0.78517	.	0.052683	0.85682	D	0.000000	T	0.47248	0.1435	L	0.36672	1.1	0.42692	D	0.993582	D;D	0.61697	0.99;0.99	P;P	0.57620	0.824;0.824	T	0.27938	-1.0059	10	0.39692	T	0.17	-18.622	19.3785	0.94521	0.0:1.0:0.0:0.0	.	587;587	Q1JQ81;O00512	.;BCL9_HUMAN	V	587	ENSP00000234739:L587V	ENSP00000234739:L587V	L	+	1	0	BCL9	145558344	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.591000	0.67536	2.815000	0.96918	0.561000	0.74099	CTT		0.547	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		G	147091720	C	G	147091720	3	3	73	1	0	0	0	0	1	0	0	0	1381	913	32	3	1777	3	BCL9	1	147091720	Missense_Mutation	SNP	C	TCGA-13-0724-01A-01W-0372-09	395148	147091720	102158901	5	3666											
CHRM3	1131	genome.wustl.edu	37	1	240071910	240071910	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	C	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr1:240071910G>C	ENST00000255380.4	+	5	1938	c.1159G>C	c.(1159-1161)Gac>Cac	p.D387H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	387					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.D387H(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCCTCATCGGACAACCTGCA	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											34	28	30					1																	240071910		2203	4300	6503	238138533	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1159G>C	1.37:g.240071910G>C	ENSP00000255380:p.Asp387His		238138533	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476171	0.44044	.	.	ENSG00000133019	ENST00000255380	T	0.59502	0.26	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.454917	0.22891	N	0.054400	T	0.52869	0.1761	N	0.20986	0.625	0.49299	D	0.99977	P	0.42941	0.794	P	0.48524	0.58	T	0.55958	-0.8058	10	0.72032	D	0.01	-29.6902	12.7337	0.57212	0.0744:0.0:0.9255:0.0	.	387	P20309	ACM3_HUMAN	H	387	ENSP00000255380:D387H	ENSP00000255380:D387H	D	+	1	0	CHRM3	238138533	1.000000	0.71417	0.964000	0.40570	0.370000	0.29829	6.613000	0.74192	2.828000	0.97474	0.655000	0.94253	GAC		0.587	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		C	240071910	G	C	240071910	3	2	73	1	0	0	0	0	1	0	0	0	3378	1174	41	3	1161	3	CHRM3	1	240071910	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09	92980190	240071910	9178711	6	3667											
NT5C1B	93034	genome.wustl.edu	37	2	18768370	18768370	+	Missense_Mutation	SNP	G	G	A	rs199544140	byFrequency	TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr2:18768370G>A	ENST00000359846.2	-	3	267	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000304081.4_Intron|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R64C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R64C	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	64					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.R64C(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CAAAGGCAGCGTCTACACGAC	0.537													G|||	2	0.000399361	0	0	5008	,	,		20114	0		0.002	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2											67	54	58					2																	18768370		2203	4300	6503	18631851	SO:0001583	missense	93034			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.190C>T	2.37:g.18768370G>A	ENSP00000352904:p.Arg64Cys		18631851	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.2	4.388482	0.82902	.	.	ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000359846;ENST00000416783	.	.	.	5.39	5.39	0.77823	.	0.133787	0.34700	N	0.003758	T	0.52108	0.1714	N	0.14661	0.345	0.41628	D	0.989007	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;P;P;P;P	0.59288	0.719;0.791;0.719;0.719;0.855	T	0.58476	-0.7630	9	0.87932	D	0	-18.0153	14.5287	0.67909	0.0:0.0:1.0:0.0	.	47;64;47;64;64	E7EXB7;B4DZ86;B4DXZ9;Q96P26;Q96P26-4	.;.;.;5NT1B_HUMAN;.	C	64	.	ENSP00000352904:R64C	R	-	1	0	NT5C1B-RDH14;NT5C1B	18631851	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.235000	0.58666	2.809000	0.96659	0.467000	0.42956	CGC		0.537	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			A	18768370	G	A	18768370	3	1	73	1	0	0	0	0	1	0	0	0	10686	1145	40	1	1674	1	NT5C1B	2	18768370	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09		18768370	224431003	7	3668											
GMCL1	64395	genome.wustl.edu	37	2	70064744	70064744	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr2:70064744A>G	ENST00000282570.3	+	2	577	c.326A>G	c.(325-327)gAc>gGc	p.D109G	GMCL1_ENST00000468386.2_3'UTR	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.D109G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GAAAACAGTGACATTAAGATT	0.259																																																1	Substitution - Missense(1)	ovary(1)	2											42	44	44					2																	70064744		2192	4291	6483	69918248	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.326A>G	2.37:g.70064744A>G	ENSP00000282570:p.Asp109Gly		69918248	Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281341	0.80692	.	.	ENSG00000087338	ENST00000282570	D	0.91351	-2.83	4.92	4.92	0.64577	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97655	1.0157	10	0.87932	D	0	-32.076	12.832	0.57750	1.0:0.0:0.0:0.0	.	109	Q96IK5	GMCL1_HUMAN	G	109	ENSP00000282570:D109G	ENSP00000282570:D109G	D	+	2	0	GMCL1	69918248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.131000	0.89601	2.181000	0.69327	0.455000	0.32223	GAC		0.259	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		G	70064744	A	G	70064744	3	3	73	1	0	0	0	0	1	0	0	0	6485	275	10	4	332	4	GMCL1	2	70064744	Missense_Mutation	SNP	A	TCGA-13-0724-01A-01W-0372-09	51296374	70064744	173134629	8	3669											
KRCC1	51315	genome.wustl.edu	37	2	88327856	88327856	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr2:88327856T>C	ENST00000347055.3	-	4	620	c.227A>G	c.(226-228)aAt>aGt	p.N76S		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	76								p.N76S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTGTGGAATATTGCATGATCT	0.478																																																1	Substitution - Missense(1)	ovary(1)	2											127	113	118					2																	88327856		2203	4300	6503	88108971	SO:0001583	missense	51315			AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.227A>G	2.37:g.88327856T>C	ENSP00000340083:p.Asn76Ser		88108971	Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.362573	0.00016	.	.	ENSG00000172086	ENST00000347055	T	0.29917	1.55	5.73	-11.5	0.00074	.	1.570320	0.03659	N	0.242270	T	0.09642	0.0237	N	0.02286	-0.61	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26258	-1.0108	10	0.02654	T	1	-7.7686	13.2776	0.60196	0.0:0.1168:0.375:0.5082	.	76	Q9NPI7	KRCC1_HUMAN	S	76	ENSP00000340083:N76S	ENSP00000340083:N76S	N	-	2	0	KRCC1	88108971	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.027000	0.01433	-3.613000	0.00132	-2.511000	0.00188	AAT		0.478	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		C	88327856	T	C	88327856	3	2	73	1	0	0	0	0	1	0	0	0	8441	1493	52	4	556	4	KRCC1	2	88327856	Missense_Mutation	SNP	T	TCGA-13-0724-01A-01W-0372-09	18263112	88327856	154871517	9	3670											
GRB14	2888	genome.wustl.edu	37	2	165358822	165358822	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr2:165358822A>T	ENST00000263915.3	-	9	1585	c.1047T>A	c.(1045-1047)aaT>aaA	p.N349K	GRB14_ENST00000543549.1_Missense_Mutation_p.N262K	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	349					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.N349K(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GATGCATATAATTCTGGTACA	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											92	82	86					2																	165358822		2203	4300	6503	165067068	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1047T>A	2.37:g.165358822A>T	ENSP00000263915:p.Asn349Lys		165067068	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993467	0.74703	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.52754	1.03;1.06;0.65	5.88	5.88	0.94601	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76041	-0.3104	10	0.87932	D	0	-15.3913	10.5966	0.45341	0.9283:0.0:0.0717:0.0	.	262;349	B7Z7F9;Q14449	.;GRB14_HUMAN	K	349;262;304	ENSP00000263915:N349K;ENSP00000443699:N262K;ENSP00000416786:N304K	ENSP00000263915:N349K	N	-	3	2	GRB14	165067068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.768000	0.38511	2.248000	0.74166	0.477000	0.44152	AAT		0.358	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			T	165358822	A	T	165358822	3	4	73	1	0	0	0	0	1	0	0	0	6757	98	4	5	599	5	GRB14	2	165358822	Missense_Mutation	SNP	A	TCGA-13-0724-01A-01W-0372-09	77030966	165358822	77840551	10	3671											
MINA	84864	genome.wustl.edu	37	3	97668726	97668726	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr3:97668726G>C	ENST00000333396.7	-	7	1604	c.1022C>G	c.(1021-1023)cCt>cGt	p.P341R	MINA_ENST00000394198.2_Missense_Mutation_p.P341R|MINA_ENST00000360258.4_Missense_Mutation_p.P340R	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen									p.P340R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CGCAGAGTAAGGGGGGAGTCT	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											71	71	71					3																	97668726		2203	4300	6503	99151416	SO:0001583	missense	84864			AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1022C>G	3.37:g.97668726G>C	ENSP00000328251:p.Pro341Arg		99151416		Missense_Mutation	SNP	ENST00000333396.7	37	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660090	0.96734	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.20069	2.1;2.1;2.1	5.95	5.95	0.96441	Cupin, JmjC-type (1);	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66292	-0.5960	10	0.56958	D	0.05	-10.5485	20.3854	0.98941	0.0:0.0:1.0:0.0	.	340;341	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	R	87;341;341;340	ENSP00000328251:P341R;ENSP00000377748:P341R;ENSP00000353395:P340R	ENSP00000328251:P341R	P	-	2	0	MINA	99151416	1.000000	0.71417	0.873000	0.34254	0.757000	0.42996	7.672000	0.83956	2.825000	0.97269	0.655000	0.94253	CCT		0.507	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		C	97668726	G	C	97668726	3	2	73	1	0	0	0	0	1	0	0	0	9586	1000	35	3	391	3	MINA	3	97668726	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09		97668726	100353704	11	3672											
SLITRK3	22865	genome.wustl.edu	37	3	164906391	164906391	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr3:164906391A>T	ENST00000475390.1	-	2	2671	c.2228T>A	c.(2227-2229)aTc>aAc	p.I743N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.I743N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	743					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.I743N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGGGTGGGGGATGTACTCATA	0.582										HNSCC(40;0.11)																																						1	Substitution - Missense(1)	ovary(1)	3											72	67	69					3																	164906391		2203	4300	6503	166389085	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2228T>A	3.37:g.164906391A>T	ENSP00000420091:p.Ile743Asn		166389085	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149478	0.57151	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.59906	0.23;0.23	5.44	5.44	0.79542	.	0.000000	0.38837	N	0.001549	T	0.51295	0.1666	N	0.24115	0.695	0.49582	D	0.999803	D	0.59357	0.985	P	0.47827	0.558	T	0.58228	-0.7673	10	0.87932	D	0	-17.2245	14.6193	0.68572	1.0:0.0:0.0:0.0	.	743	O94933	SLIK3_HUMAN	N	743	ENSP00000420091:I743N;ENSP00000241274:I743N	ENSP00000241274:I743N	I	-	2	0	SLITRK3	166389085	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.044000	0.93805	2.285000	0.76669	0.533000	0.62120	ATC		0.582	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		T	164906391	A	T	164906391	3	4	73	1	0	0	0	0	1	0	0	0	14747	333	12	5	709	5	SLITRK3	3	164906391	Missense_Mutation	SNP	A	TCGA-13-0724-01A-01W-0372-09	67237665	164906391	33116039	12	3673											
ABCC5	10057	genome.wustl.edu	37	3	183639181	183639181	+	Silent	SNP	C	C	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr3:183639181C>T	ENST00000334444.6	-	30	4461	c.4221G>A	c.(4219-4221)gaG>gaA	p.E1407E	ABCC5_ENST00000265586.6_Silent_p.E1364E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1407	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.E1407E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGGTGTCAAACTCCACCACCT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	3											82	90	87					3																	183639181		2089	4229	6318	185121875	SO:0001819	synonymous_variant	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.4221G>A	3.37:g.183639181C>T			185121875	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	CCDS43176.1																																																																																				0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		T	183639181	C	T	183639181	2	4	73	1	0	0	0	0	0	0	0	1	56	564	20	2		2	ABCC5	3	183639181	Silent	SNP	C	TCGA-13-0724-01A-01W-0372-09	18732790	183639181	14383249	13	3674											
FGF5	2250	genome.wustl.edu	37	4	81188190	81188190	+	Missense_Mutation	SNP	G	G	T	rs139356908		TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr4:81188190G>T	ENST00000312465.7	+	1	438	c.212G>T	c.(211-213)gGa>gTa	p.G71V	FGF5_ENST00000456523.3_Missense_Mutation_p.G71V	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	71					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.G71V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCCAAGGAAGTGGCTTG	0.612																																																1	Substitution - Missense(1)	ovary(1)	4											62	67	65					4																	81188190		2203	4300	6503	81407214	SO:0001583	missense	2250			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.212G>T	4.37:g.81188190G>T	ENSP00000311697:p.Gly71Val		81407214	B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623746	0.46840	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.08193	3.12;3.12	5.41	3.64	0.41730	.	2.681430	0.02070	N	0.051474	T	0.22859	0.0552	L	0.34521	1.04	0.58432	D	0.999996	D;P	0.55605	0.972;0.953	D;P	0.63488	0.915;0.537	T	0.00327	-1.1814	10	0.51188	T	0.08	.	14.097	0.65029	0.0:0.2867:0.7133:0.0	.	71;71	P12034-2;P12034	.;FGF5_HUMAN	V	71	ENSP00000311697:G71V;ENSP00000398353:G71V	ENSP00000311697:G71V	G	+	2	0	FGF5	81407214	1.000000	0.71417	0.042000	0.18584	0.744000	0.42396	2.822000	0.48073	0.804000	0.34136	0.561000	0.74099	GGA		0.612	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			T	81188190	G	T	81188190	3	4	73	1	0	0	0	0	1	0	0	0	5855	1174	41	3	214	3	FGF5	4	81188190	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09		81188190	109966086	14	3675											
MMRN1	22915	genome.wustl.edu	37	4	90857010	90857010	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr4:90857010G>A	ENST00000394980.1	+	7	2498	c.2179G>A	c.(2179-2181)Ggc>Agc	p.G727S	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.G727S|MMRN1_ENST00000508372.1_Missense_Mutation_p.G469S			Q13201	MMRN1_HUMAN	multimerin 1	727					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.G727S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AATGGAAGATGGCCTCAATAA	0.318																																																1	Substitution - Missense(1)	ovary(1)	4											70	72	71					4																	90857010		2203	4298	6501	91076033	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2179G>A	4.37:g.90857010G>A	ENSP00000378431:p.Gly727Ser		91076033	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941555	0.73557	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	D;D;D	0.83335	-1.52;-1.52;-1.71	5.2	5.2	0.72013	.	0.071295	0.64402	D	0.000019	D	0.89560	0.6750	M	0.68952	2.095	0.80722	D	1	D	0.64830	0.994	D	0.63877	0.919	D	0.87526	0.2449	10	0.35671	T	0.21	.	19.6319	0.95708	0.0:0.0:1.0:0.0	.	727	Q13201	MMRN1_HUMAN	S	727;727;469	ENSP00000378431:G727S;ENSP00000264790:G727S;ENSP00000426461:G469S	ENSP00000264790:G727S	G	+	1	0	MMRN1	91076033	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.326000	0.72905	2.805000	0.96524	0.655000	0.94253	GGC		0.318	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		A	90857010	G	A	90857010	3	1	73	1	0	0	0	0	1	0	0	0	9670	1348	47	2	2201	2	MMRN1	4	90857010	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09	9668820	90857010	100297266	15	3676											
C5orf44	80006	genome.wustl.edu	37	5	64957893	64957893	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr5:64957893A>G	ENST00000399438.3	+	11	1259	c.914A>G	c.(913-915)gAt>gGt	p.D305G	TRAPPC13_ENST00000545191.1_Missense_Mutation_p.D306G|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.D299G|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.D305G|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.D299G	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	305								p.D305G(1)									GGTTATGGAGATGTTAGGTTG	0.378																																																1	Substitution - Missense(1)	ovary(1)	5											178	164	169					5																	64957893		1884	4104	5988	64993649	SO:0001583	missense	80006				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"Trs65-related"		"chromosome 5 open reading frame 44"	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.914A>G	5.37:g.64957893A>G	ENSP00000382367:p.Asp305Gly		64993649	Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381975	0.82792	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.79784	0.993;0.982;0.993;0.984	T	0.82106	-0.0621	9	0.72032	D	0.01	-25.4577	15.5124	0.75793	1.0:0.0:0.0:0.0	.	299;299;305;305	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	G	305;305;299;299;306	.	ENSP00000231526:D299G	D	+	2	0	C5orf44	64993649	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	8.660000	0.91121	2.253000	0.74438	0.455000	0.32223	GAT		0.378	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		G	64957893	A	G	64957893	3	3	73	1	0	0	0	0	1	0	0	0	2303	333	12	4	956	4	C5orf44	5	64957893	Missense_Mutation	SNP	A	TCGA-13-0724-01A-01W-0372-09		64957893	115957367	16	3677											
MTHFD1L	25902	genome.wustl.edu	37	6	151336686	151336686	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr6:151336686G>C	ENST00000367321.3	+	24	2717	c.2443G>C	c.(2443-2445)Gag>Cag	p.E815Q		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	815	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.E815Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CTTGGTGTGTGAGCTTGCAAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											176	156	163					6																	151336686		2203	4300	6503	151378379	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2443G>C	6.37:g.151336686G>C	ENSP00000356290:p.Glu815Gln		151378379	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862791	0.32884	.	.	ENSG00000120254	ENST00000367321;ENST00000420192	T;T	0.24151	1.87;1.87	5.98	5.1	0.69264	.	0.275476	0.42420	D	0.000710	T	0.08492	0.0211	N	0.25286	0.73	0.80722	D	1	B;B;B	0.22800	0.075;0.002;0.036	B;B;B	0.23574	0.047;0.014;0.034	T	0.08269	-1.0730	10	0.33940	T	0.23	.	9.987	0.41847	0.2328:0.0:0.7672:0.0	.	816;570;815	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Q	815;46	ENSP00000356290:E815Q;ENSP00000395158:E46Q	ENSP00000356290:E815Q	E	+	1	0	MTHFD1L	151378379	0.696000	0.27757	1.000000	0.80357	0.991000	0.79684	0.030000	0.13688	2.843000	0.97960	0.585000	0.79938	GAG		0.507	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		C	151336686	G	C	151336686	3	2	73	1	0	0	0	0	1	0	0	0	9928	1291	45	3	2537	3	MTHFD1L	6	151336686	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09		151336686	19778381	17	3678											
ZNF713	349075	genome.wustl.edu	37	7	55991392	55991392	+	Splice_Site	SNP	G	G	C	rs151202323		TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr7:55991392G>C	ENST00000429591.2	+	3	306	c.268G>C	c.(268-270)Gat>Cat	p.D90H	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Splice_Site_p.G90R	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D90H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACTCATCCAGGTAAGTGCAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	7						G	HIS/ASP	0,4406		0,0,2203	80	67	71		268	3.8	1	7	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	ZNF713	NM_182633.1	81	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	90/431	55991392	1,13005	2203	4300	6503	55958886	SO:0001630	splice_region_variant	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.268+1G>C	7.37:g.55991392G>C			55958886		Missense_Mutation	SNP	ENST00000429591.2	37	CCDS34639.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.99|13.99	2.401786|2.401786	0.42613|0.42613	0.0|0.0	1.16E-4|1.16E-4	ENSG00000178665|ENSG00000249773	ENST00000429591|ENST00000426595	T|T	0.08634|0.00995	3.07|5.46	3.76|3.76	3.76|3.76	0.43208|0.43208	.|.	0.000000|.	0.39615|.	N|.	0.001305|.	T|T	0.02929|0.02929	0.0087|0.0087	M|M	0.79011|0.79011	2.435|2.435	0.29969|0.29969	N|N	0.818685|0.818685	D|P	0.69078|0.51240	0.997|0.943	P|P	0.55011|0.49683	0.766|0.619	T|T	0.05007|0.05007	-1.0912|-1.0912	10|9	0.66056|0.72032	D|D	0.02|0.01	.|.	11.3734|11.3734	0.49713|0.49713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	90|7	Q8N859|Q8IY71	ZN713_HUMAN|.	H|R	90|90	ENSP00000416662:D90H|ENSP00000390331:G90R	ENSP00000416662:D90H|ENSP00000390331:G90R	D|G	+|+	1|1	0|0	ZNF713|RP11-15K19.2	55958886|55958886	0.999000|0.999000	0.42202|0.42202	0.990000|0.990000	0.47175|0.47175	0.061000|0.061000	0.15899|0.15899	3.559000|3.559000	0.53756|0.53756	2.379000|2.379000	0.81126|0.81126	0.655000|0.655000	0.94253|0.94253	GAT|GGT		0.478	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633	Missense_Mutation	C	55991392	G	C	55991392	5	2	73	1	0	0	0	0	0	0	1	0	18117	1014	35	3	278	3	ZNF713	7	55991392	Splice_Site	SNP	G	TCGA-13-0724-01A-01W-0372-09		55991392	103147271	18	3679											
SEMA3C	10512	genome.wustl.edu	37	7	80432078	80432078	+	Silent	SNP	C	C	G			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr7:80432078C>G	ENST00000265361.3	-	9	1380	c.819G>C	c.(817-819)ctG>ctC	p.L273L	SEMA3C_ENST00000419255.2_Silent_p.L273L|SEMA3C_ENST00000544525.1_Silent_p.L291L|SEMA3C_ENST00000536800.1_Silent_p.L125L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	273	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.L273L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAAGGCTACGCAGTCCACCAG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	7											107	98	101					7																	80432078		2203	4300	6503	80270014	SO:0001819	synonymous_variant	10512			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.819G>C	7.37:g.80432078C>G			80270014	B4DRL8	Silent	SNP	ENST00000265361.3	37	CCDS5596.1																																																																																				0.398	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		G	80432078	C	G	80432078	2	3	73	1	0	0	0	0	0	0	0	1	14029	697	25	3		3	SEMA3C	7	80432078	Silent	SNP	C	TCGA-13-0724-01A-01W-0372-09	24440686	80432078	78706585	19	3680											
GBA2	57704	genome.wustl.edu	37	9	35738807	35738807	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr9:35738807C>T	ENST00000378103.3	-	12	2412	c.1889G>A	c.(1888-1890)cGg>cAg	p.R630Q	GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.R630Q|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R636Q	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	630			R -> W (in SPG46). {ECO:0000269|PubMed:23332916}.		bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.R630Q(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTAATAGTCCCGATAAACCTG	0.498																																																1	Substitution - Missense(1)	ovary(1)	9											123	116	118					9																	35738807		2203	4300	6503	35728807	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1889G>A	9.37:g.35738807C>T	ENSP00000367343:p.Arg630Gln		35728807	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304230	0.95601	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	6.08	6.08	0.98989	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.098532	0.64402	D	0.000001	D	0.87160	0.6108	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.99;0.998	D	0.89231	0.3577	9	0.72032	D	0.01	-22.5191	18.844	0.92196	0.0:1.0:0.0:0.0	.	636;630;630	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	Q	630;630;636	.	ENSP00000367334:R630Q	R	-	2	0	GBA2	35728807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.709000	0.84645	2.894000	0.99253	0.655000	0.94253	CGG		0.498	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		T	35738807	C	T	35738807	3	4	73	1	0	0	0	0	1	0	0	0	6267	652	23	1	918	1	GBA2	9	35738807	Missense_Mutation	SNP	C	TCGA-13-0724-01A-01W-0372-09		35738807	105474624	20	3681											
FAM75A3	727830	genome.wustl.edu	37	9	40705599	40705599	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr9:40705599G>A	ENST00000356699.5	+	4	3285	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	1086					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E1086K(1)									ACTGGTGCACGAGGAGCCCAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	9											63	55	58					9																	40705599		1547	3060	4607	40695599	SO:0001583	missense	727830					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.3256G>A	9.37:g.40705599G>A	ENSP00000349132:p.Glu1086Lys		40695599		Missense_Mutation	SNP	ENST00000356699.5	37	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	G	3.050	-0.195654	0.06259	.	.	ENSG00000147926	ENST00000356699	T	0.03717	3.83	2.79	-0.251	0.13003	.	1.104000	0.07015	N	0.825774	T	0.01029	0.0034	N	0.00538	-1.39	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47262	-0.9131	10	0.18710	T	0.47	.	1.3434	0.02159	0.2345:0.4166:0.2145:0.1344	.	1086	Q5VYP0	F75A3_HUMAN	K	1086	ENSP00000349132:E1086K	ENSP00000349132:E1086K	E	+	1	0	FAM75A3	40695599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.029000	0.12329	-0.043000	0.13513	-2.445000	0.00210	GAG		0.537	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		A	40705599	G	A	40705599	3	1	73	1	0	0	0	0	1	0	0	0	5621	1059	37	1	3270	1	FAM75A3	9	40705599	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09	4966792	40705599	100507832	21	3682											
OR8J1	219477	genome.wustl.edu	37	11	56128009	56128009	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr11:56128009A>C	ENST00000303039.3	+	1	319	c.287A>C	c.(286-288)gAa>gCa	p.E96A		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E96A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCATTCTATGAATGTGCCACC	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											145	137	140					11																	56128009		2201	4296	6497	55884585	SO:0001583	missense	219477			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.287A>C	11.37:g.56128009A>C	ENSP00000304060:p.Glu96Ala		55884585	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	A	0.245	-1.011045	0.02095	.	.	ENSG00000172487	ENST00000303039	T	0.02863	4.13	4.76	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.497754	0.19291	N	0.117900	T	0.01222	0.0040	N	0.10733	0.035	0.24613	N	0.993716	B	0.06786	0.001	B	0.08055	0.003	T	0.50092	-0.8868	10	0.09843	T	0.71	.	1.9335	0.03332	0.5277:0.0:0.2359:0.2364	.	96	Q8NGP2	OR8J1_HUMAN	A	96	ENSP00000304060:E96A	ENSP00000304060:E96A	E	+	2	0	OR8J1	55884585	0.000000	0.05858	1.000000	0.80357	0.420000	0.31355	-0.740000	0.04861	1.910000	0.55303	0.523000	0.50628	GAA		0.413	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		C	56128009	A	C	56128009	3	2	73	1	0	0	0	0	1	0	0	0	11241	246	9	5	289	5	OR8J1	11	56128009	Missense_Mutation	SNP	A	TCGA-13-0724-01A-01W-0372-09		56128009	78878507	22	3683											
DPP3	10072	genome.wustl.edu	37	11	66272241	66272241	+	Silent	SNP	T	T	G			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr11:66272241T>G	ENST00000360510.2	+	17	2102	c.2037T>G	c.(2035-2037)ctT>ctG	p.L679L	DPP3_ENST00000530165.1_Silent_p.L649L|DPP3_ENST00000531863.1_Silent_p.L699L|DPP3_ENST00000532677.1_Silent_p.L698L|DPP3_ENST00000453114.1_Silent_p.L679L|DPP3_ENST00000541961.1_Silent_p.L679L			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	679					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L679L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACACTCGCCTTGAAGGTAATG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	11											104	93	97					11																	66272241		2200	4295	6495	66028817	SO:0001819	synonymous_variant	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.2037T>G	11.37:g.66272241T>G			66028817	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	CCDS8141.1																																																																																				0.562	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			G	66272241	T	G	66272241	2	3	73	1	0	0	0	0	0	0	0	1	4728	1799	63	5		5	DPP3	11	66272241	Silent	SNP	T	TCGA-13-0724-01A-01W-0372-09	10144232	66272241	68734275	23	3684											
MMP19	4327	genome.wustl.edu	37	12	56231082	56231084	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	AAC	AAC	AAC	-	AAC	AAC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr12:56231082_56231084delAAC	ENST00000322569.4	-	9	1354_1356	c.1263_1265delGTT	c.(1261-1266)ttgttt>ttt	p.L421del	TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000548629.1_In_Frame_Del_p.L398del|MMP19_ENST00000394182.1_In_Frame_Del_p.L135del|MMP19_ENST00000409200.3_3'UTR	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	421					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.L421del(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CACTCCCGTAAACAAACCCTTGA	0.571																																																1	Deletion - In frame(1)	ovary(1)	12																																								54517351	SO:0001651	inframe_deletion	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.1263_1265delGTT	12.37:g.56231082_56231084delAAC	ENSP00000313437:p.Leu421del		54517349	B4E030|O15278|O95606|Q99580	In_Frame_Del	DEL	ENST00000322569.4	37	CCDS8895.1																																																																																				0.571	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		-	56231084	AAC	-	56231082	7	5	73	1	0	1	0	1	0	0	0	0	9657	14	1	0	265	0	MMP19	12	56231082	In_Frame_Del	DEL	AAC	TCGA-13-0724-01A-01W-0372-09		56231082	77620813	24	3685											
KRR1	11103	genome.wustl.edu	37	12	75897755	75897755	+	Missense_Mutation	SNP	G	G	A	rs368830982		TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr12:75897755G>A	ENST00000229214.4	-	7	783	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	254	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.R254C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGTTCCTTGCGTTTATTCACA	0.358																																																1	Substitution - Missense(1)	ovary(1)	12						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	212	197	202		760	5	1	12		202	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRR1	NM_007043.6	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	254/382	75897755	2,13004	2203	4300	6503	74184022	SO:0001583	missense	11103			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.760C>T	12.37:g.75897755G>A	ENSP00000229214:p.Arg254Cys		74184022	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288961	0.59976	2.27E-4	1.16E-4	ENSG00000111615	ENST00000229214	T	0.31247	1.5	5.86	4.98	0.66077	.	0.098444	0.64402	D	0.000001	T	0.42899	0.1223	M	0.91196	3.185	0.80722	D	1	B	0.19445	0.036	B	0.17098	0.017	T	0.48328	-0.9045	10	0.72032	D	0.01	-11.0911	10.4769	0.44670	0.0688:0.0:0.7973:0.134	.	254	Q13601	KRR1_HUMAN	C	254	ENSP00000229214:R254C	ENSP00000229214:R254C	R	-	1	0	KRR1	74184022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.929000	0.70096	1.495000	0.48549	0.585000	0.79938	CGC		0.358	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		A	75897755	G	A	75897755	3	1	73	1	0	0	0	0	1	0	0	0	8446	1145	40	1	401	1	KRR1	12	75897755	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09	19666673	75897755	57954140	25	3686											
BTBD12	84464	genome.wustl.edu	37	16	3647922	3647922	+	Silent	SNP	G	G	A			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr16:3647922G>A	ENST00000294008.3	-	6	1882	c.1242C>T	c.(1240-1242)gaC>gaT	p.D414D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	414	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.D414D(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACGGTGCCTCGTCCACCTTCC	0.592								Direct reversal of damage																																								1	Substitution - coding silent(1)	ovary(1)	16											82	79	80					16																	3647922		2197	4300	6497	3587923	SO:0001819	synonymous_variant	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1242C>T	16.37:g.3647922G>A			3587923	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.592	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3647922	G	A	3647922	2	1	73	1	0	0	0	0	0	0	0	1	1540	1136	40	1		1	BTBD12	16	3647922	Silent	SNP	G	TCGA-13-0724-01A-01W-0372-09		3647922	86706831	26	3687											
CREBBP	1387	genome.wustl.edu	37	16	3820936	3820942	+	Frame_Shift_Del	DEL	GAGGCCC	GAGGCCC	-			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	GAGGCCC	GAGGCCC	GAGGCCC	-	GAGGCCC	GAGGCCC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr16:3820936_3820942delGAGGCCC	ENST00000262367.5	-	14	3318_3324	c.2509_2515delGGGCCTC	c.(2509-2517)gggcctcagfs	p.GPQ837fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.GPQ799fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	837					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G837fs*10(1)|p.Q839*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGCTGGCCTGAGGCCCCAGCATGTTG	0.556			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	urinary_tract(1)|ovary(1)	16	GRCh37	CI084719	CREBBP	I																																				3760943	SO:0001589	frameshift_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2509_2515delGGGCCTC	16.37:g.3820936_3820942delGAGGCCC	ENSP00000262367:p.Gly837fs		3760937	D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	CCDS10509.1																																																																																				0.556	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		-	3820942	GAGGCCC	-	3820936	7	5	73	1	0	1	0	1	0	0	0	0	3861	1299	45	0	4885	0	CREBBP	16	3820936	Frame_Shift_Del	DEL	GAGGCCC	TCGA-13-0724-01A-01W-0372-09	173014	3820936	86533817	27	3688											
TP53	7157	genome.wustl.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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"	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	17											50	52	51					17																	7578461		2202	4300	6502	7519186	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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe		7519186	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578461	C	A	7578461	3	1	73	1	0	0	0	0	1	0	0	0	16381	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-13-0724-01A-01W-0372-09		7578461	73616749	28	3689											
CARD14	79092	genome.wustl.edu	37	17	78178061	78178061	+	Silent	SNP	C	C	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr17:78178061C>T	ENST00000573882.1	+	19	2855	c.2319C>T	c.(2317-2319)atC>atT	p.I773I	RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000344227.2_Silent_p.I773I|RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	773					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)	p.I773I(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGTCCGCATCGTCAGTATGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	17											54	45	48					17																	78178061		2202	4299	6501	75792656	SO:0001819	synonymous_variant	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2319C>T	17.37:g.78178061C>T			75792656	B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	CCDS11768.1																																																																																				0.567	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			T	78178061	C	T	78178061	2	4	73	1	0	0	0	0	0	0	0	1	2646	874	31	1		1	CARD14	17	78178061	Silent	SNP	C	TCGA-13-0724-01A-01W-0372-09	70599600	78178061	3017149	29	3690											
TCEB3B	51224	genome.wustl.edu	37	18	44560014	44560014	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr18:44560014G>T	ENST00000332567.4	-	1	1974	c.1622C>A	c.(1621-1623)cCg>cAg	p.P541Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	541	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P541Q(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGGGCGTCCGGATTGTTTCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	18											60	62	61					18																	44560014		2203	4300	6503	42814012	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1622C>A	18.37:g.44560014G>T	ENSP00000331302:p.Pro541Gln		42814012	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	3.588	-0.084256	0.07097	.	.	ENSG00000206181	ENST00000332567	T	0.06449	3.3	1.36	-2.73	0.05950	.	54.837800	0.00166	U	0.000010	T	0.06962	0.0177	L	0.44542	1.39	0.09310	N	1	P	0.42692	0.787	B	0.39805	0.31	T	0.18808	-1.0325	10	0.59425	D	0.04	1.0541	3.8439	0.08926	0.5538:0.1992:0.2471:0.0	.	541	Q8IYF1	ELOA2_HUMAN	Q	541	ENSP00000331302:P541Q	ENSP00000331302:P541Q	P	-	2	0	TCEB3B	42814012	0.223000	0.23663	0.000000	0.03702	0.000000	0.00434	0.629000	0.24538	-1.600000	0.01603	-2.125000	0.00346	CCG		0.597	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		T	44560014	G	T	44560014	3	4	73	1	0	0	0	0	1	0	0	0	15682	1116	39	3	643	3	TCEB3B	18	44560014	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09		44560014	33517234	30	3691											
ZNF557	79230	genome.wustl.edu	37	19	7083614	7083614	+	Silent	SNP	C	C	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr19:7083614C>T	ENST00000439035.2	+	8	1371	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	ZNF557_ENST00000414706.1_Silent_p.S384S|ZNF557_ENST00000252840.6_Silent_p.S384S			Q8N988	ZN557_HUMAN	zinc finger protein 557	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S384S(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTGGAAAATCCTTTAATGTTC	0.368																																																1	Substitution - coding silent(1)	ovary(1)	19											65	68	67					19																	7083614		2127	4266	6393	7034614	SO:0001819	synonymous_variant	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1131C>T	19.37:g.7083614C>T			7034614	Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	CCDS45945.1																																																																																				0.368	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		T	7083614	C	T	7083614	2	4	73	1	0	0	0	0	0	0	0	1	17988	668	24	2		2	ZNF557	19	7083614	Silent	SNP	C	TCGA-13-0724-01A-01W-0372-09		7083614	52045369	31	3692											
FBN3	84467	genome.wustl.edu	37	19	8155128	8155128	+	Silent	SNP	C	C	G			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr19:8155128C>G	ENST00000600128.1	-	49	6453	c.6039G>C	c.(6037-6039)cgG>cgC	p.R2013R	FBN3_ENST00000601739.1_Silent_p.R2013R|FBN3_ENST00000270509.2_Silent_p.R2013R			Q75N90	FBN3_HUMAN	fibrillin 3	2013						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R2013R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAAACTCTGCCGTGTGTCTG	0.617																																																1	Substitution - coding silent(1)	ovary(1)	19											43	43	43					19																	8155128		2203	4300	6503	8061128	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6039G>C	19.37:g.8155128C>G			8061128	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947154	0.18356	.	.	ENSG00000142449	ENST00000341066	.	.	.	4.58	-3.61	0.04556	.	.	.	.	.	T	0.38506	0.1043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44892	-0.9298	5	0.33141	T	0.24	.	0.9039	0.01280	0.2012:0.1945:0.3432:0.261	.	.	.	.	A	133	.	ENSP00000341317:G133A	G	-	2	0	FBN3	8061128	0.186000	0.23225	0.914000	0.36105	0.930000	0.56654	-0.608000	0.05641	0.048000	0.15891	-0.258000	0.10820	GGC		0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		G	8155128	C	G	8155128	2	3	73	1	0	0	0	0	0	0	0	1	5704	726	26	3		3	FBN3	19	8155128	Silent	SNP	C	TCGA-13-0724-01A-01W-0372-09	1071514	8155128	50973855	32	3693											
AP1M2	10053	genome.wustl.edu	37	19	10690457	10690457	+	Missense_Mutation	SNP	G	G	A	rs376655050		TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr19:10690457G>A	ENST00000250244.6	-	7	833	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	AP1M2_ENST00000590923.1_Missense_Mutation_p.R253C	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	251	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.R251C(1)		endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GAGATGGTGCGGTCGTTGTCA	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											136	141	139					19																	10690457		2186	4296	6482	10551457	SO:0001583	missense	10053			AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.751C>T	19.37:g.10690457G>A	ENSP00000250244:p.Arg251Cys		10551457	B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.954752	0.53293	.	.	ENSG00000129354	ENST00000250244	T	0.25085	1.82	5.21	4.18	0.49190	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.982	T	0.79361	-0.1835	10	0.87932	D	0	-30.7159	11.6721	0.51408	0.0864:0.0:0.9136:0.0	.	253;251	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	C	251	ENSP00000250244:R251C	ENSP00000250244:R251C	R	-	1	0	AP1M2	10551457	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	2.123000	0.41996	1.221000	0.43506	0.555000	0.69702	CGC		0.557	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			A	10690457	G	A	10690457	3	1	73	1	0	0	0	0	1	0	0	0	735	1116	39	1	544	1	AP1M2	19	10690457	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09	2535329	10690457	48438526	33	3694											
NOTCH3	4854	genome.wustl.edu	37	19	15276882	15276882	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr19:15276882G>T	ENST00000263388.2	-	30	5458	c.5383C>A	c.(5383-5385)Ctg>Atg	p.L1795M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1795					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.L1795M(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGGAAGCCAGCATTAGCGGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	19											52	52	52					19																	15276882		2203	4300	6503	15137882	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5383C>A	19.37:g.15276882G>T	ENSP00000263388:p.Leu1795Met		15137882	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885328	0.72410	.	.	ENSG00000074181	ENST00000263388	T	0.56941	0.43	5.18	4.11	0.48088	Ankyrin repeat-containing domain (3);	0.000000	0.26553	N	0.023725	T	0.72036	0.3411	M	0.81112	2.525	0.50813	D	0.999896	D	0.89917	1.0	D	0.85130	0.997	T	0.75238	-0.3388	10	0.66056	D	0.02	.	13.2631	0.60117	0.0801:0.0:0.9199:0.0	.	1795	Q9UM47	NOTC3_HUMAN	M	1795	ENSP00000263388:L1795M	ENSP00000263388:L1795M	L	-	1	2	NOTCH3	15137882	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.601000	0.36773	2.688000	0.91661	0.655000	0.94253	CTG		0.547	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15276882	G	T	15276882	3	4	73	1	0	0	0	0	1	0	0	0	10550	962	34	3	1598	3	NOTCH3	19	15276882	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09	4586425	15276882	43852101	34	3695			1	2		4	4	4415	G		4.093546e-08
NOTCH3	4854	genome.wustl.edu	37	19	15278142	15278142	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr19:15278142G>C	ENST00000263388.2	-	29	5355	c.5280C>G	c.(5278-5280)atC>atG	p.I1760M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1760					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.I1760M(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGCCACGCGGATGTCAGCAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											145	108	121					19																	15278142		2203	4300	6503	15139142	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5280C>G	19.37:g.15278142G>C	ENSP00000263388:p.Ile1760Met		15139142	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165910	0.57476	.	.	ENSG00000074181	ENST00000263388	D	0.83335	-1.71	4.26	3.22	0.36961	.	.	.	.	.	D	0.90120	0.6913	M	0.81112	2.525	0.45962	D	0.998787	D	0.89917	1.0	D	0.77557	0.99	D	0.90523	0.4490	9	0.62326	D	0.03	.	12.4525	0.55684	0.0:0.0:0.8307:0.1693	.	1760	Q9UM47	NOTC3_HUMAN	M	1760	ENSP00000263388:I1760M	ENSP00000263388:I1760M	I	-	3	3	NOTCH3	15139142	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.083000	0.41615	0.992000	0.38840	-0.470000	0.05040	ATC		0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		C	15278142	G	C	15278142	3	2	73	1	0	0	0	0	1	0	0	0	10550	1164	41	3	1705	3	NOTCH3	19	15278142	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09	1260	15278142	43850841	35	3696			1	2		4	4	4415	G		4.093546e-08
NOTCH3	4854	genome.wustl.edu	37	19	15281228	15281228	+	Silent	SNP	G	G	A			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr19:15281228G>A	ENST00000263388.2	-	27	5103	c.5028C>T	c.(5026-5028)ttC>ttT	p.F1676F		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1676					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.F1676F(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCCCTCAGGGAACCAGAGGG	0.657																																																1	Substitution - coding silent(1)	ovary(1)	19											42	46	45					19																	15281228		2203	4300	6503	15142228	SO:0001819	synonymous_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5028C>T	19.37:g.15281228G>A			15142228	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																				0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15281228	G	A	15281228	2	1	73	1	0	0	0	0	0	0	0	1	10550	1165	41	2		2	NOTCH3	19	15281228	Silent	SNP	G	TCGA-13-0724-01A-01W-0372-09	3086	15281228	43847755	36	3697			1	2		4	4	4415	G		4.093546e-08
NOTCH3	4854	genome.wustl.edu	37	19	15281296	15281296	+	Silent	SNP	G	G	A			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr19:15281296G>A	ENST00000263388.2	-	27	5035	c.4960C>T	c.(4960-4962)Ctg>Ttg	p.L1654L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1654					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.L1654L(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATGACCAGCAGCAAGACAGCG	0.662																																																1	Substitution - coding silent(1)	ovary(1)	19											24	29	27					19																	15281296		2188	4278	6466	15142296	SO:0001819	synonymous_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4960C>T	19.37:g.15281296G>A			15142296	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																				0.662	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15281296	G	A	15281296	2	1	73	1	0	0	0	0	0	0	0	1	10550	962	34	2		2	NOTCH3	19	15281296	Silent	SNP	G	TCGA-13-0724-01A-01W-0372-09	68	15281296	43847687	37	3698			1	2		4	4	4415	G		4.093546e-08
CYP4F11	57834	genome.wustl.edu	37	19	16025127	16025127	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr19:16025127G>A	ENST00000402119.4	-	11	1811	c.1385C>T	c.(1384-1386)tCg>tTg	p.S462L	CYP4F11_ENST00000591841.1_Missense_Mutation_p.S137L|CYP4F11_ENST00000248041.8_Missense_Mutation_p.S462L|CYP4F11_ENST00000326742.8_Silent_p.L440L	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.S462L(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGCCCTGCCGAGAAGGGAAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											207	206	206					19																	16025127		2203	4300	6503	15886127	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1385C>T	19.37:g.16025127G>A	ENSP00000384588:p.Ser462Leu		15886127		Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	g	22.2	4.261847	0.80358	.	.	ENSG00000171903	ENST00000402119;ENST00000248041	T;T	0.75367	-0.93;-0.93	2.93	2.93	0.34026	Cytochrome P450, conserved site (1);	0.000000	0.64402	U	0.000006	D	0.88040	0.6330	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.90306	0.4333	10	0.87932	D	0	.	11.6202	0.51113	0.0:0.0:1.0:0.0	.	462	Q9HBI6	CP4FB_HUMAN	L	462	ENSP00000384588:S462L;ENSP00000248041:S462L	ENSP00000248041:S462L	S	-	2	0	CYP4F11	15886127	1.000000	0.71417	0.837000	0.33122	0.948000	0.59901	8.074000	0.89500	1.621000	0.50320	0.462000	0.41574	TCG		0.562	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		A	16025127	G	A	16025127	3	1	73	1	0	0	0	0	1	0	0	0	4186	1059	37	1	197	1	CYP4F11	19	16025127	Missense_Mutation	SNP	G	TCGA-13-0724-01A-01W-0372-09	743831	16025127	43103856	38	3699											
PSG1	5669	genome.wustl.edu	37	19	43376194	43376194	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr19:43376194T>C	ENST00000436291.2	-	3	550	c.434A>G	c.(433-435)gAg>gGg	p.E145G	PSG1_ENST00000595356.1_Missense_Mutation_p.E145G|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000244296.2_Missense_Mutation_p.E145G|PSG1_ENST00000312439.6_Missense_Mutation_p.E145G	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	145					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E145G(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTTAGGAGTCTCCACTGTGCA	0.522																																																2	Substitution - Missense(2)	ovary(2)	19											135	128	130					19																	43376194		2201	4299	6500	48068034	SO:0001583	missense	5669				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.434A>G	19.37:g.43376194T>C	ENSP00000413041:p.Glu145Gly		48068034	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	7.763	0.705831	0.15172	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.38240	1.15;1.15;1.2	1.46	-2.93	0.05598	Immunoglobulin subtype (1);	.	.	.	.	T	0.44477	0.1295	M	0.68952	2.095	0.09310	N	1	D;B;P;B;B;P;B	0.56521	0.976;0.367;0.817;0.11;0.022;0.555;0.028	P;P;P;B;B;B;B	0.60473	0.875;0.502;0.653;0.321;0.081;0.406;0.122	T	0.34750	-0.9816	9	0.56958	D	0.05	.	2.052	0.03573	0.4043:0.0:0.227:0.3688	.	145;145;145;145;145;145;145	O75238;P11464-4;P11464;P11464-3;Q9UPK8;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.	G	145	ENSP00000413041:E145G;ENSP00000308970:E145G;ENSP00000244296:E145G	ENSP00000244296:E145G	E	-	2	0	PSG1	48068034	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-2.303000	0.01135	-1.251000	0.02494	0.155000	0.16302	GAG		0.522	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			C	43376194	T	C	43376194	3	2	73	1	0	0	0	0	1	0	0	0	12656	1551	54	4	894	4	PSG1	19	43376194	Missense_Mutation	SNP	T	TCGA-13-0724-01A-01W-0372-09	27351067	43376194	15752789	39	3700											
NCOA6	23054	genome.wustl.edu	37	20	33330015	33330015	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr20:33330015A>C	ENST00000374796.2	-	12	6615	c.4045T>G	c.(4045-4047)Tca>Gca	p.S1349A	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1349A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1349					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.S1349A(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGGGCTTTTGAATTTTGCCTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	20											88	86	86					20																	33330015		2203	4300	6503	32793676	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4045T>G	20.37:g.33330015A>C	ENSP00000363929:p.Ser1349Ala		32793676	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087614	0.36855	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.25414	1.8;1.8	6.08	4.93	0.64822	.	0.114867	0.40554	N	0.001073	T	0.12092	0.0294	N	0.19112	0.55	0.30076	N	0.809573	B	0.15473	0.013	B	0.09377	0.004	T	0.18871	-1.0323	10	0.12103	T	0.63	-11.704	3.5983	0.08014	0.6562:0.1398:0.0702:0.1337	.	1349	Q14686	NCOA6_HUMAN	A	1349	ENSP00000363929:S1349A;ENSP00000351894:S1349A	ENSP00000351894:S1349A	S	-	1	0	NCOA6	32793676	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.781000	0.47750	2.333000	0.79357	0.482000	0.46254	TCA		0.507	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		C	33330015	A	C	33330015	3	2	73	1	0	0	0	0	1	0	0	0	10233	246	9	5	2166	5	NCOA6	20	33330015	Missense_Mutation	SNP	A	TCGA-13-0724-01A-01W-0372-09		33330015	29695505	40	3701											
SON	6651	genome.wustl.edu	37	21	34932243	34932243	+	Intron	SNP	T	T	A			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chr21:34932243T>A	ENST00000356577.4	+	6	7132				SON_ENST00000300278.4_Missense_Mutation_p.L2240M|SON_ENST00000290239.6_Intron|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein						cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGCTTCTCATTTGACAGTAAC	0.453																																																0			21											49	42	45					21																	34932243		2203	4300	6503	33854113	SO:0001627	intron_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6657+162T>A	21.37:g.34932243T>A			33854113	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222683	0.39300	.	.	ENSG00000159140	ENST00000300278	T	0.13538	2.58	5.58	5.58	0.84498	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.80722	D	1	P	0.51791	0.948	P	0.55577	0.779	T	0.00867	-1.1534	8	0.34782	T	0.22	.	12.1393	0.53989	0.0:0.0:0.0:1.0	.	2240	P18583-3	.	M	2240	ENSP00000300278:L2240M	ENSP00000300278:L2240M	L	+	1	2	SON	33854113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.640000	0.54350	2.124000	0.65301	0.460000	0.39030	TTG		0.453	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		A	34932243	T	A	34932243	1	1	73	0	1	0	0	0	0	0	0	0	14929	1838	64	5		5	SON	21	34932243	Intron	SNP	T	TCGA-13-0724-01A-01W-0372-09		34932243	13197652	41	3702											
TBC1D8B	54885	genome.wustl.edu	37	X	106064217	106064217	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chrX:106064217A>G	ENST00000357242.5	+	3	526	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.K118E|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.K118E|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.K118E	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	118							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.K118E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTACAAGGAAAAATAAGAGT	0.338																																																1	Substitution - Missense(1)	ovary(1)	X											60	58	58					X																	106064217		2203	4297	6500	105950873	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.352A>G	X.37:g.106064217A>G	ENSP00000349781:p.Lys118Glu		105950873	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.594988	0.46318	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175;ENST00000460545	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.87269	2.87	0.80722	D	1	P;D;P	0.59357	0.685;0.985;0.89	B;P;B	0.62649	0.356;0.905;0.393	T	0.61936	-0.6960	10	0.87932	D	0	-16.6277	12.9925	0.58627	1.0:0.0:0.0:0.0	.	118;118;118	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	E	118;118;118;118;20	ENSP00000349781:K118E;ENSP00000310675:K118E;ENSP00000421375:K118E;ENSP00000276175:K118E	ENSP00000276175:K118E	K	+	1	0	TBC1D8B	105950873	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.284000	0.95882	1.813000	0.52934	0.339000	0.21740	AAA		0.338	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		G	106064217	A	G	106064217	3	3	73	1	0	0	0	0	1	0	0	0	15626	15	1	4	362	4	TBC1D8B	23	106064217	Missense_Mutation	SNP	A	TCGA-13-0724-01A-01W-0372-09		106064217	49206343	42	3703											
LUZP4	51213	genome.wustl.edu	37	X	114524416	114524416	+	Splice_Site	SNP	G	G	T			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	G	T	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chrX:114524416G>T	ENST00000371920.3	+	1	98	c.91G>T	c.(91-93)Gac>Tac	p.D31Y	LUZP4_ENST00000451986.2_5'UTR	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	31						nucleus (GO:0005634)		p.D31Y(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TATGTCTCTAGGTATGTAGAT	0.507																																																1	Substitution - Missense(1)	ovary(1)	X											69	55	59					X																	114524416		2203	4300	6503	114430672	SO:0001630	splice_region_variant	51213			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"cancer/testis antigen 28"	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.91+1G>T	X.37:g.114524416G>T			114430672	B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	g	17.29	3.351918	0.61183	.	.	ENSG00000102021	ENST00000371921;ENST00000371920	T;T	0.67171	-0.25;0.28	2.35	2.35	0.29111	.	.	.	.	.	T	0.66577	0.2803	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66484	-0.5912	9	0.59425	D	0.04	.	7.4674	0.27330	0.0:0.0:1.0:0.0	.	31	Q9P127	LUZP4_HUMAN	Y	31	ENSP00000360989:D31Y;ENSP00000360988:D31Y	ENSP00000360988:D31Y	D	+	1	0	LUZP4	114430672	1.000000	0.71417	0.986000	0.45419	0.536000	0.34869	2.914000	0.48797	1.456000	0.47831	0.509000	0.49947	GAC		0.507	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383	Missense_Mutation	T	114524416	G	T	114524416	5	4	73	1	0	0	0	0	0	0	1	0	9088	1014	35	3	93	3	LUZP4	23	114524416	Splice_Site	SNP	G	TCGA-13-0724-01A-01W-0372-09	8460199	114524416	40746144	43	3704											
GABRQ	55879	genome.wustl.edu	37	X	151821311	151821311	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0724-01A-01W-0372-09	TCGA-13-0724-10B-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2b6aa1c8-5150-4d8f-af59-d5a826321308	071f2eff-e6f5-4aec-84dd-d54da1ce9001	g.chrX:151821311A>G	ENST00000370306.2	+	9	1486	c.1466A>G	c.(1465-1467)cAt>cGt	p.H489R		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	489					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.H489R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCGAAGCCCATGGCCATGGT	0.542																																																1	Substitution - Missense(1)	ovary(1)	X											113	97	102					X																	151821311		2203	4300	6503	151571967	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1466A>G	X.37:g.151821311A>G	ENSP00000359329:p.His489Arg		151571967	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	A	9.429	1.084956	0.20390	.	.	ENSG00000147402	ENST00000370306	T	0.77750	-1.12	3.26	-1.09	0.09904	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.532650	0.00541	N	0.000229	T	0.67757	0.2927	L	0.39898	1.24	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.47209	-0.9135	10	0.49607	T	0.09	.	2.3886	0.04372	0.4263:0.0:0.3417:0.2319	.	489	Q9UN88	GBRT_HUMAN	R	489	ENSP00000359329:H489R	ENSP00000359329:H489R	H	+	2	0	GABRQ	151571967	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	0.037000	0.13840	-0.311000	0.08754	0.486000	0.48141	CAT		0.542	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		G	151821311	A	G	151821311	3	3	73	1	0	0	0	0	1	0	0	0	6175	217	8	4	1500	4	GABRQ	23	151821311	Missense_Mutation	SNP	A	TCGA-13-0724-01A-01W-0372-09	37296895	151821311	3449249	44	3705											
OPRD1	4985	genome.wustl.edu	37	1	29185806	29185806	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr1:29185806C>A	ENST00000234961.2	+	2	810	c.568C>A	c.(568-570)Cgt>Agt	p.R190S		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	190					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)	p.R190S(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGCTGTGACCCGTCCCCGGGG	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											37	28	31					1																	29185806		2203	4300	6503	29058393	SO:0001583	missense	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.568C>A	1.37:g.29185806C>A	ENSP00000234961:p.Arg190Ser		29058393	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810017	0.31961	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.37058	1.22	4.57	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.747080	0.12250	N	0.485691	T	0.21590	0.0520	N	0.16567	0.415	0.24361	N	0.994874	B	0.02656	0.0	B	0.15484	0.013	T	0.14062	-1.0486	10	0.45353	T	0.12	.	5.7201	0.17982	0.1914:0.7095:0.0:0.099	.	190	P41143	OPRD_HUMAN	S	190	ENSP00000234961:R190S	ENSP00000234961:R190S	R	+	1	0	OPRD1	29058393	0.718000	0.27976	0.916000	0.36221	0.918000	0.54935	2.286000	0.43496	1.150000	0.42419	0.462000	0.41574	CGT		0.617	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		A	29185806	C	A	29185806	3	1	74	1	0	0	0	0	1	0	0	0	10884	652	23	3	574	3	OPRD1	1	29185806	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09		29185806	220064815	1	3706											
LEPRE1	64175	genome.wustl.edu	37	1	43223532	43223532	+	Silent	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr1:43223532G>A	ENST00000296388.5	-	5	1053	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	LEPRE1_ENST00000397054.3_Silent_p.D334D|LEPRE1_ENST00000236040.4_Silent_p.D334D			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	334					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.D334D(1)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATCACCTCGTCATTGGGGA	0.463																																																1	Substitution - coding silent(1)	ovary(1)	1											254	221	232					1																	43223532		2203	4300	6503	42996119	SO:0001819	synonymous_variant	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1002C>T	1.37:g.43223532G>A			42996119	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	CCDS472.2																																																																																				0.463	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		A	43223532	G	A	43223532	2	1	74	1	0	0	0	0	0	0	0	1	8729	1136	40	1		1	LEPRE1	1	43223532	Silent	SNP	G	TCGA-13-0726-01A-01W-0372-09	14037726	43223532	206027089	2	3707											
ATXN7L2	127002	genome.wustl.edu	37	1	110033681	110033681	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr1:110033681C>T	ENST00000369870.3	+	10	1511	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L	ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000393709.3_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	499								p.P499L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCTCCATGCCCCCCACCAAG	0.667											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											37	42	41					1																	110033681		2203	4300	6503	109835204	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1496C>T	1.37:g.110033681C>T	ENSP00000358886:p.Pro499Leu	1424	109835204		Missense_Mutation	SNP	ENST00000369870.3	37	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377455	0.24944	.	.	ENSG00000162650	ENST00000369870;ENST00000541125;ENST00000369869	T	0.33438	1.41	5.17	4.26	0.50523	.	0.509090	0.18506	N	0.139215	T	0.08358	0.0208	N	0.19112	0.55	0.36254	D	0.854088	B;B	0.34329	0.449;0.0	B;B	0.37091	0.241;0.001	T	0.09079	-1.0691	10	0.10902	T	0.67	-4.5365	10.853	0.46782	0.0:0.9119:0.0:0.0881	.	126;499	Q5T6C4;Q5T6C5	.;AT7L2_HUMAN	L	499;499;126	ENSP00000358886:P499L	ENSP00000358885:P126L	P	+	2	0	ATXN7L2	109835204	0.112000	0.22096	0.879000	0.34478	0.983000	0.72400	2.310000	0.43708	1.417000	0.47077	0.407000	0.27541	CCC		0.667	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		T	110033681	C	T	110033681	3	4	74	1	0	0	0	0	1	0	0	0	1217	623	22	2	1534	2	ATXN7L2	1	110033681	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	66810149	110033681	139216940	3	3708											
LCE1A	353131	genome.wustl.edu	37	1	152799996	152799996	+	Silent	SNP	C	C	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr1:152799996C>T	ENST00000335123.2	+	1	48	c.48C>T	c.(46-48)tgC>tgT	p.C16C		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	16	Cys-rich.				keratinization (GO:0031424)			p.C16C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTcccaagtgcacccccaagt	0.622																																																1	Substitution - coding silent(1)	ovary(1)	1											50	57	55					1																	152799996		2203	4300	6503	151066620	SO:0001819	synonymous_variant	353131				CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.48C>T	1.37:g.152799996C>T			151066620		Silent	SNP	ENST00000335123.2	37	CCDS1028.1																																																																																				0.622	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		T	152799996	C	T	152799996	2	4	74	1	0	0	0	0	0	0	0	1	8659	718	25	2		2	LCE1A	1	152799996	Silent	SNP	C	TCGA-13-0726-01A-01W-0372-09	42766315	152799996	96450625	4	3709											
ATF6	22926	genome.wustl.edu	37	1	161736166	161736166	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr1:161736166G>A	ENST00000367942.3	+	1	83	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	RP11-474I16.8_ENST00000431097.2_RNA	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	6	Transcription activation.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.G6R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	GGAGCCGGCTGGGGTTGCCGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											62	65	64					1																	161736166		2203	4300	6503	160002790	SO:0001583	missense	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.16G>A	1.37:g.161736166G>A	ENSP00000356919:p.Gly6Arg		160002790	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785900	0.31593	.	.	ENSG00000118217	ENST00000367942	T	0.16743	2.32	3.69	0.41	0.16387	.	1.240780	0.05786	N	0.609435	T	0.03305	0.0096	N	0.22421	0.69	0.24371	N	0.994835	B;B	0.29085	0.232;0.232	B;B	0.24269	0.032;0.052	T	0.43196	-0.9406	9	0.59425	D	0.04	-11.2916	3.6739	0.08284	0.1357:0.0:0.421:0.4433	.	6;7	P18850;Q59H30	ATF6A_HUMAN;.	R	6	ENSP00000356919:G6R	ENSP00000356919:G6R	G	+	1	0	ATF6	160002790	0.497000	0.26067	0.000000	0.03702	0.017000	0.09413	1.003000	0.29809	0.087000	0.17167	-0.310000	0.09108	GGG		0.572	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		A	161736166	G	A	161736166	3	1	74	1	0	0	0	0	1	0	0	0	1084	1348	47	2	18	2	ATF6	1	161736166	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	8936170	161736166	87514455	5	3710											
BAT2L2	23215	genome.wustl.edu	37	1	171535524	171535524	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr1:171535524G>C	ENST00000338920.4	+	21	6501	c.6264G>C	c.(6262-6264)caG>caC	p.Q2088H	PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q2090H|PRRC2C_ENST00000367742.3_Missense_Mutation_p.Q2090H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q2088H	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2088					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.Q2090H(1)									AACAGCGGCAGAAGCAGCCAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											23	24	24					1																	171535524		2203	4294	6497	169802148	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.6264G>C	1.37:g.171535524G>C	ENSP00000343629:p.Gln2088His		169802148	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.37|12.37	1.918845|1.918845	0.33908|0.33908	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.02498|.	4.27;4.28;4.29;4.29|.	5.17|5.17	1.79|1.79	0.24919|0.24919	.|.	0.000000|.	0.44285|.	D|.	0.000461|.	T|T	0.49847|0.49847	0.1581|0.1581	M|M	0.66939|0.66939	2.045|2.045	0.45962|0.45962	D|D	0.998783|0.998783	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|T	0.49579|0.49579	-0.8925|-0.8925	10|5	0.18710|.	T|.	0.47|.	.|.	9.3298|9.3298	0.38014|0.38014	0.3892:0.0:0.6108:0.0|0.3892:0.0:0.6108:0.0	.|.	2088|.	Q9Y520-4|.	.|.	H|T	2090;2042;2088;2090;2088;1845|636	ENSP00000375928:Q2090H;ENSP00000410219:Q2088H;ENSP00000356716:Q2090H;ENSP00000343629:Q2088H|.	ENSP00000343629:Q2088H|.	Q|R	+|+	3|2	2|0	PRRC2C|PRRC2C	169802148|169802148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.173000|2.173000	0.42472|0.42472	0.571000|0.571000	0.29365|0.29365	-0.150000|-0.150000	0.13652|0.13652	CAG|AGA		0.398	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		C	171535524	G	C	171535524	3	2	74	1	0	0	0	0	1	0	0	0	1321	933	33	3	6342	3	BAT2L2	1	171535524	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	9799358	171535524	77715097	6	3711											
SLC45A3	85414	genome.wustl.edu	37	1	205632105	205632105	+	Missense_Mutation	SNP	G	G	C	rs370670814		TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr1:205632105G>C	ENST00000367145.3	-	3	1109	c.814C>G	c.(814-816)Cgc>Ggc	p.R272G	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	272					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R272G(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AAGAGCCGGCGCAGGGTGCGG	0.677			T	"ETV1, ETV5, ELK4, ERG"	prostate																																		Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	1	Substitution - Missense(1)	ovary(1)	1											26	32	30					1																	205632105		2202	4299	6501	203898728	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.814C>G	1.37:g.205632105G>C	ENSP00000356113:p.Arg272Gly		203898728	A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123078	0.56613	.	.	ENSG00000158715	ENST00000367145	D	0.92048	-2.96	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.218189	0.48286	D	0.000184	D	0.91516	0.7321	M	0.69248	2.105	0.38792	D	0.955008	P;P	0.43024	0.798;0.798	P;P	0.45881	0.496;0.496	D	0.90075	0.4166	10	0.25106	T	0.35	-0.7509	12.1331	0.53955	0.0792:0.0:0.9208:0.0	.	272;272	A8K2U9;Q96JT2	.;S45A3_HUMAN	G	272	ENSP00000356113:R272G	ENSP00000356113:R272G	R	-	1	0	SLC45A3	203898728	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.948000	0.40303	2.505000	0.84491	0.655000	0.94253	CGC		0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		C	205632105	G	C	205632105	3	2	74	1	0	0	0	0	1	0	0	0	14645	1087	38	3	859	3	SLC45A3	1	205632105	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	34096581	205632105	43618516	7	3712											
TRIM17	51127	genome.wustl.edu	37	1	228595964	228595964	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr1:228595964G>T	ENST00000366697.2	-	6	2328	c.1372C>A	c.(1372-1374)Ctg>Atg	p.L458M	TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.L458M|TRIM17_ENST00000295033.3_Missense_Mutation_p.L458M|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L458M(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGAGCCCCCAGGCAGAAGAAA	0.612																																																1	Substitution - Missense(1)	ovary(1)	1																																								226662587	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1372C>A	1.37:g.228595964G>T	ENSP00000355658:p.Leu458Met		226662587	B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958615	0.53400	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.74632	-0.86;-0.86;-0.86	4.92	1.99	0.26369	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.35320	N	0.003298	T	0.81917	0.4924	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77940	-0.2399	10	0.42905	T	0.14	.	6.9849	0.24723	0.3041:0.0:0.6959:0.0	.	458	Q9Y577	TRI17_HUMAN	M	458	ENSP00000355658:L458M;ENSP00000355659:L458M;ENSP00000295033:L458M	ENSP00000295033:L458M	L	-	1	2	TRIM17	226662587	0.974000	0.33945	0.963000	0.40424	0.914000	0.54420	1.344000	0.33941	0.315000	0.23110	-0.140000	0.14226	CTG		0.612	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		T	228595964	G	T	228595964	3	4	74	1	0	0	0	0	1	0	0	0	16493	991	35	3	65	3	TRIM17	1	228595964	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	22963859	228595964	20654657	8	3713											
MCEE	84693	genome.wustl.edu	37	2	71351486	71351486	+	Silent	SNP	C	C	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr2:71351486C>T	ENST00000244217.5	-	2	245	c.228G>A	c.(226-228)gcG>gcA	p.A76A	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	76			A -> V (in dbSNP:rs11541017).		cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)	p.A76A(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAAGAGGGACCGCTTCACTTA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	2											106	107	107					2																	71351486		2203	4300	6503	71204994	SO:0001819	synonymous_variant	84693			AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"glyoxalase domain containing 2"	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.228G>A	2.37:g.71351486C>T			71204994	Q53TP1|Q8WW63	Silent	SNP	ENST00000244217.5	37	CCDS1915.1																																																																																				0.478	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		T	71351486	C	T	71351486	2	4	74	1	0	0	0	0	0	0	0	1	9377	639	23	1		1	MCEE	2	71351486	Silent	SNP	C	TCGA-13-0726-01A-01W-0372-09		71351486	171847887	9	3714											
SLC20A1	6574	genome.wustl.edu	37	2	113416546	113416546	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr2:113416546T>A	ENST00000272542.3	+	7	1462	c.923T>A	c.(922-924)cTc>cAc	p.L308H	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	308					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.L308H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ACTGTGCCCCTCCAGGCTGTG	0.478																																																1	Substitution - Missense(1)	ovary(1)	2											94	95	95					2																	113416546		2203	4300	6503	113133017	SO:0001583	missense	6574				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.923T>A	2.37:g.113416546T>A	ENSP00000272542:p.Leu308His		113133017	Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	T	6.424	0.446399	0.12223	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.91180	-2.8	5.9	3.5	0.40072	.	0.771673	0.12222	N	0.488244	D	0.88746	0.6520	M	0.76170	2.325	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.24394	0.053;0.053	T	0.78725	-0.2092	10	0.41790	T	0.15	-19.1493	5.3015	0.15780	0.1557:0.083:0.0:0.7613	.	308;308	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	H	308;120	ENSP00000272542:L308H	ENSP00000272542:L308H	L	+	2	0	SLC20A1	113133017	0.000000	0.05858	0.010000	0.14722	0.245000	0.25701	0.221000	0.17680	0.478000	0.27488	0.533000	0.62120	CTC		0.478	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		A	113416546	T	A	113416546	3	1	74	1	0	0	0	0	1	0	0	0	14441	1551	54	5	945	5	SLC20A1	2	113416546	Missense_Mutation	SNP	T	TCGA-13-0726-01A-01W-0372-09	42065060	113416546	129782827	10	3715											
GLI2	2736	genome.wustl.edu	37	2	121742290	121742290	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr2:121742290G>A	ENST00000452319.1	+	12	1987	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.V315I|GLI2_ENST00000361492.4_Missense_Mutation_p.V643I					GLI family zinc finger 2									p.V643I(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTGCCTGCACGTCAGAGCCAT	0.687																																																1	Substitution - Missense(1)	ovary(1)	2											24	25	25					2																	121742290		2200	4296	6496	121458760	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1927G>A	2.37:g.121742290G>A	ENSP00000390436:p.Val643Ile		121458760		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291896	0.40594	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.16073	2.37;2.37;2.44	4.7	-0.447	0.12234	.	0.319820	0.32952	N	0.005456	T	0.10895	0.0266	L	0.31371	0.925	0.24058	N	0.996028	B;B;B;B;B	0.20780	0.016;0.001;0.047;0.048;0.01	B;B;B;B;B	0.20577	0.005;0.0;0.017;0.03;0.002	T	0.20571	-1.0271	10	0.42905	T	0.14	.	8.8145	0.34987	0.4092:0.0:0.5908:0.0	.	643;626;298;298;315	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	I	643;643;315	ENSP00000390436:V643I;ENSP00000354586:V643I;ENSP00000312694:V315I	ENSP00000312694:V315I	V	+	1	0	GLI2	121458760	0.091000	0.21658	0.892000	0.35008	0.969000	0.65631	0.433000	0.21477	-0.304000	0.08843	-0.258000	0.10820	GTC		0.687	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		A	121742290	G	A	121742290	3	1	74	1	0	0	0	0	1	0	0	0	6438	1145	40	1	1969	1	GLI2	2	121742290	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	8325744	121742290	121457083	11	3716											
CNTNAP5	129684	genome.wustl.edu	37	2	125232356	125232356	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr2:125232356C>T	ENST00000431078.1	+	7	1323	c.959C>T	c.(958-960)aCc>aTc	p.T320I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	320	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T320I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAACCTGGGACCTTTTTAAAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											46	42	43					2																	125232356		1808	4073	5881	124948826	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.959C>T	2.37:g.125232356C>T	ENSP00000399013:p.Thr320Ile		124948826	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139616	0.77775	.	.	ENSG00000155052	ENST00000431078	T	0.78364	-1.17	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	D	0.000090	D	0.85248	0.5653	L	0.48174	1.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.83792	0.0231	10	0.44086	T	0.13	.	19.112	0.93319	0.0:1.0:0.0:0.0	.	320	Q8WYK1	CNTP5_HUMAN	I	320	ENSP00000399013:T320I	ENSP00000399013:T320I	T	+	2	0	CNTNAP5	124948826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.553000	0.67287	2.823000	0.97156	0.591000	0.81541	ACC		0.368	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125232356	C	T	125232356	3	4	74	1	0	0	0	0	1	0	0	0	3650	507	18	2	985	2	CNTNAP5	2	125232356	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	3490066	125232356	117967017	12	3717											
POTEE	445582	genome.wustl.edu	37	2	132021439	132021439	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr2:132021439T>C	ENST00000356920.5	+	15	2505	c.2411T>C	c.(2410-2412)cTg>cCg	p.L804P	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	804	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CACCCCATCCTGCTGACCGAG	0.582																																																0			2											72	74	73					2																	132021439		2201	4295	6496	131737909	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2411T>C	2.37:g.132021439T>C	ENSP00000439189:p.Leu804Pro		131737909	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	14.47	2.544381	0.45280	.	.	ENSG00000188219	ENST00000356920	D	0.97209	-4.29	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98998	0.9658	H	0.99927	4.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95736	0.8779	8	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	804	Q6S8J3	POTEE_HUMAN	P	804	ENSP00000439189:L804P	ENSP00000439189:L804P	L	+	2	0	AC131180.1	131737909	1.000000	0.71417	0.309000	0.25155	0.314000	0.28054	5.388000	0.66249	0.103000	0.17682	0.102000	0.15555	CTG		0.582	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		C	132021439	T	C	132021439	3	2	74	1	0	0	0	0	1	0	0	0	12264	1580	55	4	2469	4	POTEE	2	132021439	Missense_Mutation	SNP	T	TCGA-13-0726-01A-01W-0372-09	6789083	132021439	111177934	13	3718											
LRP2	4036	genome.wustl.edu	37	2	170022518	170022518	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr2:170022518A>C	ENST00000263816.3	-	62	11967	c.11682T>G	c.(11680-11682)aaT>aaG	p.N3894K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3894	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.N3894K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AAATGCAGCGATTGTTGTCAC	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											210	193	199					2																	170022518		2203	4300	6503	169730764	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11682T>G	2.37:g.170022518A>C	ENSP00000263816:p.Asn3894Lys		169730764	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.048359|4.048359	0.75846|0.75846	.|.	.|.	ENSG00000081479|ENSG00000081479	ENST00000536293|ENST00000263816	.|D	.|0.95238	.|-3.65	6.06|6.06	-2.43|-2.43	0.06522|0.06522	.|.	.|0.091143	.|0.64402	.|D	.|0.000001	D|D	0.89375|0.89375	0.6697|0.6697	N|N	0.17872|0.17872	0.535|0.535	0.80722|0.80722	D|D	1|1	.|D	.|0.53151	.|0.958	.|P	.|0.54174	.|0.744	D|D	0.84812|0.84812	0.0791|0.0791	6|10	0.46703|0.06365	T|T	0.11|0.9	.|.	11.7747|11.7747	0.51979|0.51979	0.5406:0.0:0.4594:0.0|0.5406:0.0:0.4594:0.0	.|.	.|3894	.|P98164	.|LRP2_HUMAN	S|K	559|3894	.|ENSP00000263816:N3894K	ENSP00000438157:I559S|ENSP00000263816:N3894K	I|N	-|-	2|3	0|2	LRP2|LRP2	169730764|169730764	1.000000|1.000000	0.71417|0.71417	0.869000|0.869000	0.34112|0.34112	0.908000|0.908000	0.53690|0.53690	1.829000|1.829000	0.39121|0.39121	-0.405000|-0.405000	0.07599|0.07599	0.528000|0.528000	0.53228|0.53228	ATC|AAT		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170022518	A	C	170022518	3	2	74	1	0	0	0	0	1	0	0	0	8956	330	12	5	2357	5	LRP2	2	170022518	Missense_Mutation	SNP	A	TCGA-13-0726-01A-01W-0372-09	38001079	170022518	73176855	14	3719											
CCDC108	255101	genome.wustl.edu	37	2	219900221	219900221	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr2:219900221G>A	ENST00000341552.5	-	5	606	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	CCDC108_ENST00000453220.1_Missense_Mutation_p.L175F|CCDC108_ENST00000324264.6_Missense_Mutation_p.L110F|CCDC108_ENST00000295729.2_Missense_Mutation_p.L110F|CCDC108_ENST00000441968.1_Missense_Mutation_p.L175F|CCDC108_ENST00000410037.1_Missense_Mutation_p.L110F|CCDC108_ENST00000409865.3_Missense_Mutation_p.L164F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	175						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.L175F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTTCTGGAGTTTCAAGGAT	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											160	154	156					2																	219900221		2203	4300	6503	219608465	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.523C>T	2.37:g.219900221G>A	ENSP00000340776:p.Leu175Phe		219608465	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966006	0.53507	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.16	4.01	0.46588	.	0.494256	0.16903	N	0.194809	T	0.19805	0.0476	N	0.19112	0.55	0.25792	N	0.984608	P;P;P	0.38767	0.646;0.589;0.646	B;B;B	0.38378	0.191;0.272;0.191	T	0.08351	-1.0726	10	0.56958	D	0.05	-12.6981	7.5429	0.27748	0.0:0.0741:0.279:0.6469	.	164;110;175	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	F	175;175;175;164;110;109;164;110;110;110;110	ENSP00000340776:L175F;ENSP00000413377:L175F;ENSP00000409117:L175F;ENSP00000386945:L164F;ENSP00000386258:L110F;ENSP00000393483:L164F;ENSP00000396836:L110F;ENSP00000295729:L110F;ENSP00000313807:L110F;ENSP00000413746:L110F	ENSP00000295729:L110F	L	-	1	0	CCDC108	219608465	0.992000	0.36948	0.996000	0.52242	0.914000	0.54420	1.229000	0.32600	0.813000	0.34350	-0.521000	0.04368	CTC		0.488	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		A	219900221	G	A	219900221	3	1	74	1	0	0	0	0	1	0	0	0	2743	1029	36	2	5526	2	CCDC108	2	219900221	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	49877703	219900221	23299152	15	3720											
BRPF1	7862	genome.wustl.edu	37	3	9783744	9783744	+	Silent	SNP	G	G	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr3:9783744G>T	ENST00000457855.1	+	5	1901	c.1890G>T	c.(1888-1890)ctG>ctT	p.L630L	BRPF1_ENST00000424362.1_Silent_p.L630L|BRPF1_ENST00000383829.2_Silent_p.L630L|BRPF1_ENST00000433861.2_Silent_p.L630L|BRPF1_ENST00000302054.3_Silent_p.L630L			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	630	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L630L(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGATGCAGCTGACTCCTTTCC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	3											82	77	79					3																	9783744		2203	4300	6503	9758744	SO:0001819	synonymous_variant	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1890G>T	3.37:g.9783744G>T			9758744	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	CCDS2575.1																																																																																				0.532	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		T	9783744	G	T	9783744	2	4	74	1	0	0	0	0	0	0	0	1	1520	1277	45	3		3	BRPF1	3	9783744	Silent	SNP	G	TCGA-13-0726-01A-01W-0372-09		9783744	188238686	16	3721											
ZDHHC23	254887	genome.wustl.edu	37	3	113675209	113675209	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr3:113675209C>G	ENST00000330212.3	+	4	1195	c.896C>G	c.(895-897)tCa>tGa	p.S299*	ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.S293*	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	299					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S299*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GTTGGAGAATCAAATCATCAA	0.358																																																1	Substitution - Nonsense(1)	ovary(1)	3											221	213	216					3																	113675209		2203	4300	6503	115157899	SO:0001587	stop_gained	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.896C>G	3.37:g.113675209C>G	ENSP00000330485:p.Ser299*		115157899	D3DN76	Nonsense_Mutation	SNP	ENST00000330212.3	37	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	C	38	7.009509	0.97998	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	.	.	.	5.66	4.78	0.61160	.	0.323586	0.33419	N	0.004940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-4.1032	11.1588	0.48503	0.1782:0.7052:0.1166:0.0	.	.	.	.	X	299;293	.	ENSP00000330485:S299X	S	+	2	0	ZDHHC23	115157899	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.724000	0.38064	1.370000	0.46153	0.655000	0.94253	TCA		0.358	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		G	113675209	C	G	113675209	4	3	74	1	0	0	0	0	0	1	0	0	17614	838	29	3	906	3	ZDHHC23	3	113675209	Nonsense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	103891465	113675209	84347221	17	3722											
TOPBP1	11073	genome.wustl.edu	37	3	133362902	133362902	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr3:133362902C>T	ENST00000260810.5	-	11	1941	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	TOPBP1_ENST00000511439.1_5'Flank	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	604	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.E517K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACAGTGGCTTCCACTTCACAC	0.428								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											1	Substitution - Missense(1)	ovary(1)	3											90	87	88					3																	133362902		1937	4152	6089	134845592	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1810G>A	3.37:g.133362902C>T	ENSP00000260810:p.Glu604Lys		134845592	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908062	0.52333	.	.	ENSG00000163781	ENST00000260810	T	0.11604	2.76	5.72	3.94	0.45596	BRCT (2);	0.139458	0.64402	N	0.000005	T	0.08626	0.0214	L	0.41710	1.295	0.46631	D	0.999132	B	0.23591	0.088	B	0.27170	0.077	T	0.12708	-1.0537	10	0.08837	T	0.75	.	9.0703	0.36488	0.0:0.7322:0.1298:0.1379	.	604	Q92547	TOPB1_HUMAN	K	604	ENSP00000260810:E604K	ENSP00000260810:E604K	E	-	1	0	TOPBP1	134845592	1.000000	0.71417	0.930000	0.37139	0.365000	0.29674	2.805000	0.47939	0.781000	0.33589	0.591000	0.81541	GAA		0.428	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		T	133362902	C	T	133362902	3	4	74	1	0	0	0	0	1	0	0	0	16369	864	30	2	2830	2	TOPBP1	3	133362902	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	19687693	133362902	64659528	18	3723											
AGXT2	64902	genome.wustl.edu	37	5	35003915	35003915	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr5:35003915A>G	ENST00000231420.6	-	13	1590	c.1390T>C	c.(1390-1392)Tgc>Cgc	p.C464R		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	464					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.C464R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	ATGTGCTTGCAGTCCTCATGG	0.413											OREG0016558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	5											141	136	138					5																	35003915		2203	4300	6503	35039672	SO:0001583	missense	64902			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1390T>C	5.37:g.35003915A>G	ENSP00000231420:p.Cys464Arg	852	35039672	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380618	0.24944	.	.	ENSG00000113492	ENST00000231420	T	0.19938	2.11	5.58	5.58	0.84498	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.345266	0.37095	N	0.002250	T	0.52435	0.1734	M	0.89715	3.055	0.80722	D	1	D;P	0.76494	0.999;0.956	D;P	0.83275	0.996;0.499	T	0.57757	-0.7756	10	0.32370	T	0.25	-7.9195	13.9861	0.64337	1.0:0.0:0.0:0.0	.	389;464	E9PDL7;Q9BYV1	.;AGT2_HUMAN	R	464	ENSP00000231420:C464R	ENSP00000231420:C464R	C	-	1	0	AGXT2	35039672	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	4.004000	0.57068	2.111000	0.64477	0.533000	0.62120	TGC		0.413	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		G	35003915	A	G	35003915	3	3	74	1	0	0	0	0	1	0	0	0	405	188	7	4	162	4	AGXT2	5	35003915	Missense_Mutation	SNP	A	TCGA-13-0726-01A-01W-0372-09		35003915	145911345	19	3724											
CTNNA1	1495	genome.wustl.edu	37	5	138118935	138118935	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr5:138118935C>T	ENST00000302763.7	+	3	265	c.175C>T	c.(175-177)Cat>Tat	p.H59Y	CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Missense_Mutation_p.H59Y	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	59	Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.H59Y(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAAGAAGGCCCATGTTTTGGC	0.418																																																1	Substitution - Missense(1)	ovary(1)	5											82	80	81					5																	138118935		2203	4300	6503	138146834	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.175C>T	5.37:g.138118935C>T	ENSP00000304669:p.His59Tyr		138146834	Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733541	0.89482	.	.	ENSG00000044115	ENST00000517980;ENST00000522227;ENST00000524127;ENST00000523912;ENST00000520339;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518245;ENST00000519113;ENST00000520158;ENST00000518825	T;T;T;T;T;T;T;T;T;T	0.41758	1.19;1.19;1.19;1.58;1.19;1.19;0.99;1.58;1.19;1.19	5.71	5.71	0.89125	.	0.046570	0.85682	D	0.000000	T	0.48786	0.1519	L	0.59436	1.845	0.80722	D	1	P;P	0.49253	0.921;0.887	B;P	0.45037	0.401;0.467	T	0.51044	-0.8755	10	0.59425	D	0.04	-6.4865	19.4583	0.94904	0.0:1.0:0.0:0.0	.	59;59	G3XAM7;P35221	.;CTNA1_HUMAN	Y	59	ENSP00000428439:H59Y;ENSP00000429636:H59Y;ENSP00000428049:H59Y;ENSP00000430304:H59Y;ENSP00000428202:H59Y;ENSP00000304669:H59Y;ENSP00000428457:H59Y;ENSP00000430078:H59Y;ENSP00000429457:H59Y;ENSP00000427821:H59Y	ENSP00000304669:H59Y	H	+	1	0	CTNNA1	138146834	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.776000	0.85560	2.704000	0.92352	0.561000	0.74099	CAT		0.418	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		T	138118935	C	T	138118935	3	4	74	1	0	0	0	0	1	0	0	0	4012	594	21	2	181	2	CTNNA1	5	138118935	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	103115020	138118935	42796325	20	3725											
GABBR1	2550	genome.wustl.edu	37	6	29577125	29577125	+	Silent	SNP	G	G	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr6:29577125G>C	ENST00000377034.4	-	15	2075	c.1740C>G	c.(1738-1740)gtC>gtG	p.V580V	GABBR1_ENST00000377012.4_Silent_p.V463V|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Silent_p.V463V|GABBR1_ENST00000377016.4_Silent_p.V518V	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	580					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.V580V(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATGTCTTGATGACCAGGGTCT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	6											97	80	86					6																	29577125		1509	2709	4218	29685104	SO:0001819	synonymous_variant	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1740C>G	6.37:g.29577125G>C			29685104	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																				0.537	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			C	29577125	G	C	29577125	2	2	74	1	0	0	0	0	0	0	0	1	6155	1277	45	3		3	GABBR1	6	29577125	Silent	SNP	G	TCGA-13-0726-01A-01W-0372-09		29577125	141537942	21	3726											
DDR1	780	genome.wustl.edu	37	6	30863207	30863207	+	Missense_Mutation	SNP	C	C	T	rs140223039		TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr6:30863207C>T	ENST00000324771.8	+	14	2088	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	DDR1_ENST00000376567.2_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000376568.3_Missense_Mutation_p.R514C|DDR1_ENST00000361741.4_Silent_p.T217T|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000513240.1_Missense_Mutation_p.R514C|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000452441.1_Missense_Mutation_p.R514C|DDR1_ENST00000376575.3_Missense_Mutation_p.R514C|DDR1_ENST00000418800.2_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	514	Gly/Pro-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R514C(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCCAGCCTACCGCCTCCTTCT	0.652																																																1	Substitution - Missense(1)	ovary(1)	6						C	,,,,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	153	158	156		,,,,1540,1540	4.2	1	6	dbSNP_134	156	2,8598	2.2+/-6.3	0,2,4298	yes	intron,intron,intron,intron,missense,missense	DDR1	NM_001202521.1,NM_001202522.1,NM_001202523.1,NM_001954.4,NM_013993.2,NM_013994.2	,,,,180,180	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,,,probably-damaging,probably-damaging	,,,,514/914,514/920	30863207	3,13003	2203	4300	6503	30971186	SO:0001583	missense	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1540C>T	6.37:g.30863207C>T	ENSP00000318217:p.Arg514Cys		30971186	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135205	0.77662	2.27E-4	2.33E-4	ENSG00000204580	ENST00000324771;ENST00000376575;ENST00000376568;ENST00000452441;ENST00000513240	D;D;D;D;D	0.85773	-1.91;-2.03;-1.91;-1.91;-2.03	5.1	4.22	0.49857	.	0.285530	0.34223	N	0.004146	T	0.72622	0.3483	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.988	P;B	0.54924	0.764;0.353	T	0.79569	-0.1749	10	0.54805	T	0.06	.	13.2991	0.60315	0.0:0.8397:0.1603:0.0	.	514;514	Q08345-5;Q08345	.;DDR1_HUMAN	C	514	ENSP00000318217:R514C;ENSP00000365759:R514C;ENSP00000365752:R514C;ENSP00000405039:R514C;ENSP00000427552:R514C	ENSP00000318217:R514C	R	+	1	0	DDR1	30971186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.077000	0.57598	1.133000	0.42147	0.460000	0.39030	CGC		0.652	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		T	30863207	C	T	30863207	3	4	74	1	0	0	0	0	1	0	0	0	4336	652	23	1	1582	1	DDR1	6	30863207	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	1286082	30863207	140251860	22	3727											
MDN1	23195	genome.wustl.edu	37	6	90409321	90409321	+	Splice_Site	SNP	T	T	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr6:90409321T>A	ENST00000369393.3	-	58	9111	c.8996A>T	c.(8995-8997)aAg>aTg	p.K2999M	MDN1_ENST00000428876.1_Splice_Site_p.K2999M			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2999					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.K2999M(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATTTTTACCTTCTGATGATG	0.358																																																1	Substitution - Missense(1)	ovary(1)	6											160	152	155					6																	90409321		2203	4300	6503	90466042	SO:0001630	splice_region_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8997+1A>T	6.37:g.90409321T>A			90466042	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	3.233	-0.156967	0.06544	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03831	3.79;3.79	5.77	0.195	0.15151	.	0.664334	0.16133	N	0.228115	T	0.00845	0.0028	N	0.14661	0.345	0.53688	D	0.999971	B	0.22480	0.07	B	0.15870	0.014	T	0.48019	-0.9071	10	0.46703	T	0.11	.	1.3173	0.02110	0.2351:0.1361:0.1218:0.507	.	2999	Q9NU22	MDN1_HUMAN	M	2999	ENSP00000358400:K2999M;ENSP00000413970:K2999M	ENSP00000358400:K2999M	K	-	2	0	MDN1	90466042	0.917000	0.31117	0.521000	0.27850	0.119000	0.20118	1.119000	0.31258	0.155000	0.19261	-0.264000	0.10439	AAG		0.358	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Missense_Mutation	A	90409321	T	A	90409321	5	1	74	1	0	0	0	0	0	0	1	0	9415	1623	56	5	7974	5	MDN1	6	90409321	Splice_Site	SNP	T	TCGA-13-0726-01A-01W-0372-09	59546114	90409321	80705746	23	3728											
PTPRK	5796	genome.wustl.edu	37	6	128505586	128505586	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	T	T	A	T	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr6:128505586T>A	ENST00000368215.3	-	7	1152	c.1153A>T	c.(1153-1155)Aaa>Taa	p.K385*	PTPRK_ENST00000368227.3_Nonsense_Mutation_p.K385*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.K385*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.K385*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.K385*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.K385*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.K385*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	385	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K385*(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCTGCACATTTTGTTCTGGTG	0.433																																																1	Substitution - Nonsense(1)	ovary(1)	6											76	67	70					6																	128505586		2203	4300	6503	128547279	SO:0001587	stop_gained	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1153A>T	6.37:g.128505586T>A	ENSP00000357198:p.Lys385*		128547279	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	6.320927|6.320927	0.97471|0.97471	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676|ENST00000490332	.|.	.|.	.|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.057427|.	0.64402|.	D|.	0.000002|.	.|T	.|0.63177	.|0.2489	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64976	.|-0.6280	.|3	0.02654|.	T|.	1|.	.|.	15.5912|15.5912	0.76530|0.76530	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|H	385;385;385;385;385;385;385;242|201	.|.	ENSP00000357190:K385X|.	K|Q	-|-	1|3	0|2	PTPRK|PTPRK	128547279|128547279	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.994000|0.994000	0.84299|0.84299	8.040000|8.040000	0.89188|0.89188	2.084000|2.084000	0.62774|0.62774	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.433	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			A	128505586	T	A	128505586	4	1	74	1	0	0	0	0	0	1	0	0	12808	1850	64	5	3287	5	PTPRK	6	128505586	Nonsense_Mutation	SNP	T	TCGA-13-0726-01A-01W-0372-09	38096265	128505586	42609481	24	3729											
ABCA13	154664	genome.wustl.edu	37	7	48285544	48285544	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr7:48285544G>T	ENST00000435803.1	+	13	1600	c.1576G>T	c.(1576-1578)Ggt>Tgt	p.G526C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	526					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G471C(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCATATGGGGTGGTCTCCA	0.453																																																1	Substitution - Missense(1)	ovary(1)	7											82	77	78					7																	48285544		1876	4108	5984	48256090	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1576G>T	7.37:g.48285544G>T	ENSP00000411096:p.Gly526Cys		48256090	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628166	0.28978	.	.	ENSG00000179869	ENST00000435803	D	0.88124	-2.34	4.96	0.347	0.16022	.	1.069320	0.07371	N	0.885869	T	0.73329	0.3573	N	0.08118	0	0.21719	N	0.999573	B	0.25955	0.138	B	0.24541	0.054	T	0.63010	-0.6732	10	0.72032	D	0.01	.	6.2628	0.20910	0.5637:0.0:0.4363:0.0	.	526	Q86UQ4	ABCAD_HUMAN	C	526	ENSP00000411096:G526C	ENSP00000411096:G526C	G	+	1	0	ABCA13	48256090	0.010000	0.17322	0.003000	0.11579	0.034000	0.12701	0.638000	0.24674	0.128000	0.18479	0.655000	0.94253	GGT		0.453	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48285544	G	T	48285544	3	4	74	1	0	0	0	0	1	0	0	0	31	1232	43	3	1455	3	ABCA13	7	48285544	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09		48285544	110853119	25	3730											
CCDC136	64753	genome.wustl.edu	37	7	128450380	128450399	+	Frame_Shift_Del	DEL	ATTCCAAATTGGCTAAGTCC	ATTCCAAATTGGCTAAGTCC	TGTAA			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	ATTCCAAATTGGCTAAGTCC	ATTCCAAATTGGCTAAGTCC	ATTCCAAATTGGCTAAGTCC	TGTAA	ATTCCAAATTGGCTAAGTCC	ATTCCAAATTGGCTAAGTCC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr7:128450380_128450399delATTCCAAATTGGCTAAGTCC	ENST00000297788.4	+	12	2355_2374	c.1988_2007delATTCCAAATTGGCTAAGTCC	c.(1987-2007)gattccaaattggctaagtccfs	p.DSKLAKS663fs	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	663						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AATCCCGATGATTCCAAATTGGCTAAGTCCTCCAAATGTA	0.468																																																0			7																																								128237635	SO:0001589	frameshift_variant	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1988_2007delATTCCAAATTGGCTAAGTCC	7.37:g.128450380_128450399delATTCCAAATTGGCTAAGTCC	ENSP00000297788:p.Asp663fs		128237616	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	In_Frame_Del	DEL	ENST00000297788.4	37	CCDS47704.1																																																																																				0.468	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		TGTAA	128450399	ATTCCAAATTGGCTAAGTCC	TGTAA	128450380	7	5	74	1	0	1	0	1	0	0	0	0	2770	333	12	0	2034	0	CCDC136	7	128450380	Frame_Shift_Del	DEL	ATTCCAAATTGGCTAAGTCC	TCGA-13-0726-01A-01W-0372-09	80164836	128450380	30688283	26	3731											
TERF1	7013	genome.wustl.edu	37	8	73937056	73937056	+	Splice_Site	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr8:73937056G>A	ENST00000276603.5	+	5	647		c.e5-1		TERF1_ENST00000276602.6_Splice_Site	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1						age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)	p.?(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GTTTTCTTTAGCCTTTCAAAA	0.274																																																1	Unknown(1)	ovary(1)	8											100	102	101					8																	73937056		2195	4292	6487	74099610	SO:0001630	splice_region_variant	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.625-1G>A	8.37:g.73937056G>A			74099610	A7XP29|Q15553|Q8NHT6|Q93029	Splice_Site	SNP	ENST00000276603.5	37	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718813	0.68844	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000517390	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.486	0.75569	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TERF1	74099610	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.246000	0.65411	2.729000	0.93468	0.655000	0.94253	.		0.274	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489	Intron	A	73937056	G	A	73937056	5	1	74	1	0	0	0	0	0	0	1	0	15761	985	34	2	642	2	TERF1	8	73937056	Splice_Site	SNP	G	TCGA-13-0726-01A-01W-0372-09		73937056	72426966	27	3732											
RRM2B	50484	genome.wustl.edu	37	8	103236326	103236326	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr8:103236326C>G	ENST00000251810.3	-	5	741	c.498G>C	c.(496-498)aaG>aaC	p.K166N	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.K114N|RRM2B_ENST00000519317.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	166					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.K166N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	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;0.000728)		Cladribine(DB00242)	CTGCTTTTTTCTTAACATAGG	0.313								Modulation of nucleotide pools																																								1	Substitution - Missense(1)	ovary(1)	8											168	176	173					8																	103236326		2203	4300	6503	103305502	SO:0001583	missense	50484			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.498G>C	8.37:g.103236326C>G	ENSP00000251810:p.Lys166Asn		103305502	B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	CCDS34932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.47|16.47	3.132124|3.132124	0.56828|0.56828	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000522368|ENST00000251810;ENST00000535248;ENST00000395912	.|D;D	.|0.97731	.|-4.51;-4.51	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	.|0.142496	.|0.64402	.|D	.|0.000004	D|D	0.98451|0.98451	0.9484|0.9484	H|H	0.98256|0.98256	4.185|4.185	0.80722|0.80722	D|D	1|1	.|B;B	.|0.25105	.|0.118;0.083	.|B;B	.|0.23150	.|0.044;0.03	D|D	0.97718|0.97718	1.0195|1.0195	5|10	.|0.72032	.|D	.|0.01	.|.	19.4331|19.4331	0.94779|0.94779	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|114;166	.|Q7LG56-2;Q7LG56	.|.;RIR2B_HUMAN	Q|N	223|166;112;114	.|ENSP00000251810:K166N;ENSP00000379248:K114N	.|ENSP00000251810:K166N	E|K	-|-	1|3	0|2	RRM2B|RRM2B	103305502|103305502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.277000|2.277000	0.43417|0.43417	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.313	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			G	103236326	C	G	103236326	3	3	74	1	0	0	0	0	1	0	0	0	13686	912	32	3	577	3	RRM2B	8	103236326	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	29299270	103236326	43127696	28	3733											
ZNF7	7553	genome.wustl.edu	37	8	146068280	146068280	+	Silent	SNP	T	T	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr8:146068280T>C	ENST00000528372.1	+	5	2028	c.1788T>C	c.(1786-1788)ctT>ctC	p.L596L	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.L500L|ZNF7_ENST00000446747.2_Silent_p.L607L|ZNF7_ENST00000325241.6_Silent_p.L596L			P17097	ZNF7_HUMAN	zinc finger protein 7	596			L -> F (in dbSNP:rs1735170).		multicellular organismal development (GO:0007275)|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.L596L(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GCTCATATCTTATTGAACACC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	8											80	84	83					8																	146068280		2203	4300	6503	146039084	SO:0001819	synonymous_variant	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1788T>C	8.37:g.146068280T>C			146039084	B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	ENST00000528372.1	37	CCDS6435.1																																																																																				0.463	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		C	146068280	T	C	146068280	2	2	74	1	0	0	0	0	0	0	0	1	18102	1741	61	4		4	ZNF7	8	146068280	Silent	SNP	T	TCGA-13-0726-01A-01W-0372-09	42831954	146068280	295742	29	3734											
TTC39B	158219	genome.wustl.edu	37	9	15214172	15214172	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr9:15214172G>T	ENST00000512701.2	-	4	483	c.447C>A	c.(445-447)aaC>aaA	p.N149K	TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000355694.2_Missense_Mutation_p.N83K|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000380850.4_Missense_Mutation_p.N149K|TTC39B_ENST00000541445.1_Missense_Mutation_p.N83K|TTC39B_ENST00000507993.1_5'UTR			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	149								p.N83K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTGTAAATTTGTTGCTTAGAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	9											116	115	115					9																	15214172		2203	4300	6503	15204172	SO:0001583	missense	158219			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.447C>A	9.37:g.15214172G>T	ENSP00000422496:p.Asn149Lys		15204172	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021913	0.75275	.	.	ENSG00000155158	ENST00000380850;ENST00000355694;ENST00000512701;ENST00000541445	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.42	4.29	0.51040	.	0.050039	0.85682	D	0.000000	T	0.71558	0.3354	M	0.87038	2.855	0.49582	D	0.999809	D;D;D;D	0.76494	0.985;0.999;0.999;0.999	D;D;D;D	0.83275	0.933;0.991;0.996;0.996	T	0.74411	-0.3674	10	0.72032	D	0.01	-19.726	7.2681	0.26242	0.2407:0.0:0.7593:0.0	.	149;149;83;83	E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;TT39B_HUMAN	K	149;83;149;83	ENSP00000370231:N149K;ENSP00000347920:N83K;ENSP00000422496:N149K;ENSP00000442880:N83K	ENSP00000347920:N83K	N	-	3	2	TTC39B	15204172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.317000	0.51968	2.689000	0.91719	0.655000	0.94253	AAC		0.368	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		T	15214172	G	T	15214172	3	4	74	1	0	0	0	0	1	0	0	0	16708	1368	48	3	1690	3	TTC39B	9	15214172	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09		15214172	125999259	30	3735											
PFKFB3	5209	genome.wustl.edu	37	10	6261624	6261624	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr10:6261624C>G	ENST00000379775.4	+	7	921	c.591C>G	c.(589-591)agC>agG	p.S197R	PFKFB3_ENST00000379789.4_Missense_Mutation_p.S177R|PFKFB3_ENST00000379785.1_Missense_Mutation_p.S197R|PFKFB3_ENST00000317350.4_Missense_Mutation_p.S197R|PFKFB3_ENST00000540253.1_Missense_Mutation_p.S211R|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_Missense_Mutation_p.S197R|PFKFB3_ENST00000379782.3_Missense_Mutation_p.S197R	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	197	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.S197R(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ATGAAGCCAGCTACCAGCCCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	10											87	84	85					10																	6261624		2203	4300	6503	6301630	SO:0001583	missense	5209				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.591C>G	10.37:g.6261624C>G	ENSP00000369100:p.Ser197Arg		6301630	B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393479	0.25205	.	.	ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.56	4.66	0.58398	6-phosphofructo-2-kinase (1);	0.155419	0.64402	D	0.000001	T	0.41880	0.1178	L	0.31157	0.91	0.54753	D	0.999987	B;B;B;B	0.22800	0.075;0.012;0.007;0.007	B;B;B;B	0.24848	0.044;0.006;0.056;0.006	T	0.21008	-1.0258	9	0.16420	T	0.52	-13.5852	8.9578	0.35829	0.0:0.778:0.0:0.222	.	211;197;197;177	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	R	177;211;197;197;197;197;197;197	.	ENSP00000369105:S197R	S	+	3	2	PFKFB3	6301630	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.196000	0.32198	1.349000	0.45751	0.591000	0.81541	AGC		0.522	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			G	6261624	C	G	6261624	3	3	74	1	0	0	0	0	1	0	0	0	11762	796	28	3	637	3	PFKFB3	10	6261624	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09		6261624	129273123	31	3736											
EPC1	80314	genome.wustl.edu	37	10	32581524	32581524	+	Silent	SNP	G	G	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr10:32581524G>T	ENST00000263062.8	-	5	984	c.715C>A	c.(715-717)Cga>Aga	p.R239R	EPC1_ENST00000319778.6_Silent_p.R239R|EPC1_ENST00000375110.2_Silent_p.R189R	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	239					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.R239R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CTTAGATCTCGTCGCAGCTTA	0.343																																																1	Substitution - coding silent(1)	ovary(1)	10											99	94	96					10																	32581524		2202	4300	6502	32621530	SO:0001819	synonymous_variant	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.715C>A	10.37:g.32581524G>T			32621530	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Silent	SNP	ENST00000263062.8	37	CCDS7172.1																																																																																				0.343	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			T	32581524	G	T	32581524	2	4	74	1	0	0	0	0	0	0	0	1	5160	1153	40	3		3	EPC1	10	32581524	Silent	SNP	G	TCGA-13-0726-01A-01W-0372-09	26319900	32581524	102953223	32	3737											
PCDH15	65217	genome.wustl.edu	37	10	55568558	55568558	+	Missense_Mutation	SNP	G	G	A	rs371592348		TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr10:55568558G>A	ENST00000395445.1	-	36	5646	c.5252C>T	c.(5251-5253)tCt>tTt	p.S1751F	PCDH15_ENST00000395442.1_Missense_Mutation_p.S616F|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.S947F|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.S685F	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGACCTCCAGACTGACTTTC	0.498										HNSCC(58;0.16)																																						0			10											137	113	120					10																	55568558		1568	3582	5150	55238564	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5252C>T	10.37:g.55568558G>A	ENSP00000378832:p.Ser1751Phe		55238564	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37		.	.	.	.	.	.	.	.	.	.	G	13.58	2.279641	0.40294	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.62364	0.03;0.13;0.4;0.29	4.8	4.8	0.61643	.	.	.	.	.	T	0.47893	0.1470	N	0.14661	0.345	0.20926	N	0.999822	B;B	0.26876	0.162;0.162	B;B	0.33890	0.172;0.172	T	0.44877	-0.9299	9	0.87932	D	0	.	8.8877	0.35414	0.0992:0.0:0.9008:0.0	.	1749;1751	C6ZEF5;A2A3E2	.;.	F	1751;947;616;685	ENSP00000378832:S1751F;ENSP00000378833:S947F;ENSP00000378829:S616F;ENSP00000378827:S685F	ENSP00000378827:S685F	S	-	2	0	PCDH15	55238564	0.138000	0.22547	0.990000	0.47175	0.928000	0.56348	2.435000	0.44811	2.494000	0.84150	0.563000	0.77884	TCT		0.498	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		A	55568558	G	A	55568558	3	1	74	1	0	0	0	0	1	0	0	0	11511	942	33	2	664	2	PCDH15	10	55568558	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	22987034	55568558	79966189	33	3738											
LRRTM3	347731	genome.wustl.edu	37	10	68857503	68857503	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr10:68857503C>A	ENST00000361320.4	+	3	2273	c.1695C>A	c.(1693-1695)agC>agA	p.S565R	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	565					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S565R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGGACCTGAGCACAATCACAA	0.473																																																1	Substitution - Missense(1)	ovary(1)	10											151	130	137					10																	68857503		2203	4300	6503	68527509	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1695C>A	10.37:g.68857503C>A	ENSP00000355187:p.Ser565Arg		68527509	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065614	0.55539	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.53423	0.62	5.92	5.02	0.67125	.	0.000000	0.56097	D	0.000022	T	0.37919	0.1021	N	0.19112	0.55	0.34716	D	0.72824	D	0.56968	0.978	P	0.45998	0.5	T	0.56565	-0.7958	10	0.87932	D	0	.	12.0761	0.53644	0.0:0.9201:0.0:0.0799	.	565	Q86VH5	LRRT3_HUMAN	R	565	ENSP00000355187:S565R	ENSP00000355187:S565R	S	+	3	2	LRRTM3	68527509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.796000	0.55507	1.518000	0.48934	0.650000	0.86243	AGC		0.473	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		A	68857503	C	A	68857503	3	1	74	1	0	0	0	0	1	0	0	0	9041	709	25	3	1705	3	LRRTM3	10	68857503	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	13288945	68857503	66677244	34	3739											
SORBS1	10580	genome.wustl.edu	37	10	97096492	97096492	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr10:97096492C>G	ENST00000361941.3	-	28	3451	c.3425G>C	c.(3424-3426)gGa>gCa	p.G1142A	SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.G1142A|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.G1001A|SORBS1_ENST00000371227.4_Missense_Mutation_p.G1096A|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.G1001A	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GATCTTGGGTCCACCAGGGCC	0.557																																																0			10											82	82	82					10																	97096492		2203	4300	6503	97086482	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3425G>C	10.37:g.97096492C>G	ENSP00000355136:p.Gly1142Ala		97086482		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	8.180	0.793621	0.16327	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000371246;ENST00000361941;ENST00000277982	T;T;T;T;T	0.09255	3.0;3.06;3.44;3.0;3.44	5.58	4.67	0.58626	.	0.180012	0.27113	N	0.020874	T	0.06234	0.0161	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.002;0.004	T	0.22730	-1.0208	10	0.09084	T	0.74	-4.8462	9.0125	0.36150	0.2129:0.5122:0.275:0.0	.	1096;1142;1001	Q9BX66-11;Q9BX66;Q9BX66-2	.;SRBS1_HUMAN;.	A	1142;1096;1001;1142;1001	ENSP00000360293:G1142A;ENSP00000360271:G1096A;ENSP00000360292:G1001A;ENSP00000355136:G1142A;ENSP00000277982:G1001A	ENSP00000277982:G1001A	G	-	2	0	SORBS1	97086482	0.002000	0.14202	1.000000	0.80357	0.851000	0.48451	-0.090000	0.11163	1.354000	0.45846	0.561000	0.74099	GGA		0.557	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			G	97096492	C	G	97096492	3	3	74	1	0	0	0	0	1	0	0	0	14930	855	30	3	533	3	SORBS1	10	97096492	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	28238989	97096492	38438255	35	3740											
SORCS3	22986	genome.wustl.edu	37	10	107022239	107022239	+	Silent	SNP	G	G	A	rs148855365		TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr10:107022239G>A	ENST00000369701.3	+	26	3821	c.3594G>A	c.(3592-3594)acG>acA	p.T1198T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1198					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.T1198T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCTGGACACGCGGGTCATAG	0.527																																					NSCLC(116;1497 1690 7108 13108 14106)											1	Substitution - coding silent(1)	ovary(1)	10											62	49	54					10																	107022239		2203	4300	6503	107012229	SO:0001819	synonymous_variant	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3594G>A	10.37:g.107022239G>A			107012229	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																				0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		A	107022239	G	A	107022239	2	1	74	1	0	0	0	0	0	0	0	1	14935	1074	38	1		1	SORCS3	10	107022239	Silent	SNP	G	TCGA-13-0726-01A-01W-0372-09	9925747	107022239	28512508	36	3741											
HABP2	3026	genome.wustl.edu	37	10	115338451	115338451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr10:115338451C>T	ENST00000351270.3	+	7	730	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	HABP2_ENST00000541666.1_Nonsense_Mutation_p.Q212*|HABP2_ENST00000537906.1_3'UTR|HABP2_ENST00000542051.1_Nonsense_Mutation_p.Q186*	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	212	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.Q212*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GACAGTCAACCAGCATGCGTG	0.478																																																1	Substitution - Nonsense(1)	ovary(1)	10											191	165	174					10																	115338451		2203	4300	6503	115328441	SO:0001587	stop_gained	3026				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.634C>T	10.37:g.115338451C>T	ENSP00000277903:p.Gln212*		115328441	A8K467|B7Z8U5|F5H5M6|O00663	Nonsense_Mutation	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619980	0.46736	.	.	ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666	.	.	.	5.66	4.73	0.59995	.	0.346354	0.31484	N	0.007580	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	10.7043	0.45946	0.139:0.7086:0.1524:0.0	.	.	.	.	X	186;212;212	.	ENSP00000277903:Q212X	Q	+	1	0	HABP2	115328441	0.992000	0.36948	1.000000	0.80357	0.118000	0.20060	3.553000	0.53713	1.331000	0.45412	0.462000	0.41574	CAG		0.478	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		T	115338451	C	T	115338451	4	4	74	1	0	0	0	0	0	1	0	0	6938	595	21	2	660	2	HABP2	10	115338451	Nonsense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	8316212	115338451	20196296	37	3742											
SEC23IP	11196	genome.wustl.edu	37	10	121677961	121677961	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr10:121677961T>G	ENST00000369075.3	+	10	1882	c.1810T>G	c.(1810-1812)Tgc>Ggc	p.C604G	SEC23IP_ENST00000543134.1_Missense_Mutation_p.C393G	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	604					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.C604G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTTATCAAAGTGCCCTGGACC	0.353																																																1	Substitution - Missense(1)	ovary(1)	10											95	92	93					10																	121677961		2203	4300	6503	121667951	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1810T>G	10.37:g.121677961T>G	ENSP00000358071:p.Cys604Gly		121667951	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	T	2.422	-0.332812	0.05314	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.43688	0.94;0.94	5.29	1.55	0.23275	.	0.970432	0.08604	N	0.920987	T	0.21881	0.0527	N	0.14661	0.345	0.22034	N	0.999407	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23619	-1.0183	10	0.30078	T	0.28	-10.3291	1.9674	0.03399	0.3295:0.0789:0.1238:0.4679	.	393;604	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	G	604;393	ENSP00000358071:C604G;ENSP00000438773:C393G	ENSP00000358071:C604G	C	+	1	0	SEC23IP	121667951	0.454000	0.25728	0.969000	0.41365	0.118000	0.20060	0.645000	0.24782	0.145000	0.18977	0.533000	0.62120	TGC		0.353	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			G	121677961	T	G	121677961	3	3	74	1	0	0	0	0	1	0	0	0	13996	1696	59	5	1848	5	SEC23IP	10	121677961	Missense_Mutation	SNP	T	TCGA-13-0726-01A-01W-0372-09	6339510	121677961	13856786	38	3743											
KCNQ1	3784	genome.wustl.edu	37	11	2604687	2604687	+	Missense_Mutation	SNP	A	A	T	rs74462309		TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr11:2604687A>T	ENST00000155840.5	+	7	1052	c.944A>T	c.(943-945)tAt>tTt	p.Y315F	KCNQ1_ENST00000335475.5_Missense_Mutation_p.Y188F	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	315			Y -> C (in LQT1). {ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:9693036, ECO:0000269|PubMed:9927399}.|Y -> S (in LQT1). {ECO:0000269|PubMed:10220144}.		atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.Y315F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACCATCGGCTATGGGGACAAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	11	GRCh37	CM970823|CM981127	KCNQ1	M	rs74462309						194	161	172					11																	2604687		2202	4299	6501	2561263	SO:0001583	missense	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.944A>T	11.37:g.2604687A>T	ENSP00000155840:p.Tyr315Phe		2561263	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.146212	0.77888	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.98567	-5.0;-5.0	3.93	3.93	0.45458	Ion transport (1);	0.122813	0.56097	D	0.000024	D	0.98529	0.9509	M	0.74881	2.28	0.49051	D	0.999743	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79784	0.984;0.991;0.993	D	0.99044	1.0825	10	0.87932	D	0	-21.1595	11.076	0.48032	1.0:0.0:0.0:0.0	.	188;188;315	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	F	315;188	ENSP00000155840:Y315F;ENSP00000334497:Y188F	ENSP00000155840:Y315F	Y	+	2	0	KCNQ1	2561263	1.000000	0.71417	0.985000	0.45067	0.828000	0.46876	8.201000	0.89735	1.768000	0.52137	0.443000	0.29094	TAT		0.632	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		T	2604687	A	T	2604687	3	4	74	1	0	0	0	0	1	0	0	0	8082	449	16	5	979	5	KCNQ1	11	2604687	Missense_Mutation	SNP	A	TCGA-13-0726-01A-01W-0372-09		2604687	132401829	39	3744											
OR4S1	256148	genome.wustl.edu	37	11	48328640	48328640	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr11:48328640A>T	ENST00000319988.1	+	1	866	c.866A>T	c.(865-867)aAc>aTc	p.N289I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N289I(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACACTAAGGAACAACGATGTG	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											96	88	91					11																	48328640		2201	4298	6499	48285216	SO:0001583	missense	256148			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.866A>T	11.37:g.48328640A>T	ENSP00000321447:p.Asn289Ile		48285216	Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829255	0.32329	.	.	ENSG00000176555	ENST00000319988	T	0.48836	0.8	5.02	5.02	0.67125	.	.	.	.	.	T	0.76147	0.3947	H	0.94808	3.585	0.31676	N	0.643743	D	0.89917	1.0	D	0.76575	0.988	D	0.83439	0.0042	9	0.87932	D	0	.	12.9764	0.58540	1.0:0.0:0.0:0.0	.	289	Q8NGB4	OR4S1_HUMAN	I	289	ENSP00000321447:N289I	ENSP00000321447:N289I	N	+	2	0	OR4S1	48285216	0.970000	0.33590	0.379000	0.26080	0.079000	0.17450	2.445000	0.44899	2.020000	0.59435	0.533000	0.62120	AAC		0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		T	48328640	A	T	48328640	3	4	74	1	0	0	0	0	1	0	0	0	11082	43	2	5	868	5	OR4S1	11	48328640	Missense_Mutation	SNP	A	TCGA-13-0726-01A-01W-0372-09	45723953	48328640	86677876	40	3745											
MS4A1	931	genome.wustl.edu	37	11	60229852	60229852	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr11:60229852C>A	ENST00000534668.1	+	2	294	c.5C>A	c.(4-6)aCa>aAa	p.T2K	MS4A1_ENST00000528313.1_Missense_Mutation_p.T2K|MS4A1_ENST00000532073.1_Missense_Mutation_p.T2K|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Missense_Mutation_p.T2K|MS4A1_ENST00000345732.4_Missense_Mutation_p.T2K	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	2					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.T2K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	AGCAAAATGACAACACCCAGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	11											51	53	52					11																	60229852		2203	4300	6503	59986428	SO:0001583	missense	931			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.5C>A	11.37:g.60229852C>A	ENSP00000433277:p.Thr2Lys		59986428	A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	C	8.030	0.761441	0.15914	.	.	ENSG00000156738	ENST00000524807;ENST00000345732;ENST00000532491;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.25085	2.42;1.82;2.42;2.42	5.13	1.13	0.20643	.	0.828632	0.11059	N	0.604183	T	0.25606	0.0623	L	0.34521	1.04	0.20403	N	0.9999	P;P;P;P	0.47762	0.9;0.845;0.845;0.845	P;B;B;B	0.49999	0.628;0.298;0.298;0.298	T	0.13176	-1.0519	10	0.62326	D	0.03	-28.6031	6.989	0.24745	0.0:0.6296:0.0:0.3704	.	2;2;2;2	B4DT24;E9PKH8;A8K803;P11836	.;.;.;CD20_HUMAN	K	2	ENSP00000314620:T2K;ENSP00000433519:T2K;ENSP00000433277:T2K;ENSP00000374589:T2K	ENSP00000314620:T2K	T	+	2	0	MS4A1	59986428	0.160000	0.22878	0.437000	0.26809	0.702000	0.40608	0.153000	0.16323	0.562000	0.29204	-0.136000	0.14681	ACA		0.403	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			A	60229852	C	A	60229852	3	1	74	1	0	0	0	0	1	0	0	0	9854	478	17	3	7	3	MS4A1	11	60229852	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	11901212	60229852	74776664	41	3746											
RTN3	10313	genome.wustl.edu	37	11	63523611	63523611	+	Missense_Mutation	SNP	G	G	A	rs140229299	byFrequency	TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr11:63523611G>A	ENST00000377819.5	+	8	3176	c.3022G>A	c.(3022-3024)Gcc>Acc	p.A1008T	RTN3_ENST00000354497.4_Silent_p.S126S|RTN3_ENST00000356000.3_Missense_Mutation_p.A231T|RTN3_ENST00000540798.1_Missense_Mutation_p.A896T|RTN3_ENST00000339997.4_Missense_Mutation_p.A989T|RTN3_ENST00000537981.1_Missense_Mutation_p.A212T|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	1008	Interaction with FADD.|Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A989T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGTTGGCATCGCCCGAGATCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	11						G	THR/ALA,THR/ALA,THR/ALA,	0,4402		0,0,2201	202	176	185		634,2965,691,	4.4	1	11	dbSNP_134	185	3,8593	3.0+/-9.4	0,3,4295	yes	missense,missense,missense,intron	RTN3	NM_006054.2,NM_201428.1,NM_201429.1,NM_201430.1	58,58,58,	0,3,6496	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,	212/237,989/1014,231/256,	63523611	3,12995	2201	4298	6499	63280187	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.3022G>A	11.37:g.63523611G>A	ENSP00000367050:p.Ala1008Thr		63280187	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701249	0.88924	0.0	3.49E-4	ENSG00000133318	ENST00000356000;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.28	4.36	0.52297	.	0.400023	0.26680	N	0.023041	T	0.56352	0.1979	L	0.53249	1.67	0.23923	N	0.996458	D;D;D;D;D	0.65815	0.991;0.987;0.988;0.984;0.995	P;P;P;P;P	0.57101	0.79;0.813;0.75;0.667;0.682	T	0.51474	-0.8701	10	0.66056	D	0.02	-0.6239	11.4294	0.50032	0.088:0.0:0.912:0.0	.	896;1008;212;989;231	F5H774;O95197;O95197-3;O95197-2;O95197-4	.;RTN3_HUMAN;.;.;.	T	231;1008;989;896;212	ENSP00000348279:A231T;ENSP00000367050:A1008T;ENSP00000344106:A989T;ENSP00000442733:A896T;ENSP00000440874:A212T	ENSP00000344106:A989T	A	+	1	0	RTN3	63280187	0.920000	0.31207	0.964000	0.40570	0.992000	0.81027	4.841000	0.62824	1.233000	0.43693	0.555000	0.69702	GCC		0.408	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		A	63523611	G	A	63523611	3	1	74	1	0	0	0	0	1	0	0	0	13730	1087	38	1	3052	1	RTN3	11	63523611	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	3293759	63523611	71482905	42	3747											
RPS6KA4	8986	genome.wustl.edu	37	11	64129370	64129370	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr11:64129370G>A	ENST00000334205.4	+	8	867	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V268M|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.V268M	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	268	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.V268M(1)		breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GATCGGGCCCGTGGCGCAGGA	0.667																																																1	Substitution - Missense(1)	ovary(1)	11											46	55	52					11																	64129370		2199	4292	6491	63885946	SO:0001583	missense	8986			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.802G>A	11.37:g.64129370G>A	ENSP00000333896:p.Val268Met		63885946	A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	N	13.43	2.236258	0.39498	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.01	4.01	0.46588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.410893	0.23091	N	0.052029	T	0.57066	0.2028	L	0.43554	1.36	0.29624	N	0.845997	B;B;P;P	0.35780	0.413;0.311;0.52;0.465	B;B;B;B	0.39706	0.095;0.172;0.307;0.172	T	0.62803	-0.6777	10	0.87932	D	0	.	11.9849	0.53142	0.0:0.0:1.0:0.0	.	268;268;268;268	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	M	268;268;268;252	ENSP00000435580:V268M;ENSP00000333896:V268M;ENSP00000294261:V268M;ENSP00000432945:V252M	ENSP00000294261:V268M	V	+	1	0	RPS6KA4	63885946	0.695000	0.27747	0.995000	0.50966	0.890000	0.51754	0.973000	0.29422	1.942000	0.56320	0.511000	0.50034	GTG		0.667	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		A	64129370	G	A	64129370	3	1	74	1	0	0	0	0	1	0	0	0	13656	1145	40	1	832	1	RPS6KA4	11	64129370	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	605759	64129370	70877146	43	3748											
USP35	57558	genome.wustl.edu	37	11	77917031	77917031	+	Silent	SNP	C	C	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr11:77917031C>G	ENST00000529308.1	+	7	1602	c.1341C>G	c.(1339-1341)ggC>ggG	p.G447G	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Silent_p.G15G|USP35_ENST00000526425.1_Silent_p.G178G|USP35_ENST00000441408.2_Missense_Mutation_p.A32G	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	447	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.G447G(1)|p.G203G(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCAACCTGGGCAACACATGCT	0.557																																																2	Substitution - coding silent(2)	ovary(2)	11											302	307	306					11																	77917031		2061	4181	6242	77594679	SO:0001819	synonymous_variant	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1341C>G	11.37:g.77917031C>G			77594679		Silent	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	9.722	1.159833	0.21454	.	.	ENSG00000118369	ENST00000441408	T	0.13420	2.59	4.7	0.272	0.15645	.	.	.	.	.	T	0.10981	0.0268	.	.	.	0.23550	N	0.997436	B	0.17465	0.022	B	0.14578	0.011	T	0.29671	-1.0004	8	0.87932	D	0	-36.0128	9.5545	0.39330	0.5548:0.2472:0.198:0.0	.	32	E7EWV7	.	G	32	ENSP00000400825:A32G	ENSP00000400825:A32G	A	+	2	0	USP35	77594679	0.846000	0.29590	1.000000	0.80357	0.765000	0.43378	-0.052000	0.11865	0.175000	0.19841	-0.293000	0.09583	GCA		0.557	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		G	77917031	C	G	77917031	2	3	74	1	0	0	0	0	0	0	0	1	17066	697	25	3		3	USP35	11	77917031	Silent	SNP	C	TCGA-13-0726-01A-01W-0372-09	13787661	77917031	57089485	44	3749											
ATM	472	genome.wustl.edu	37	11	108153482	108153482	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr11:108153482G>C	ENST00000452508.2	+	26	3811	c.3622G>C	c.(3622-3624)Gac>Cac	p.D1208H	ATM_ENST00000278616.4_Missense_Mutation_p.D1208H			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1208					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.D1208H(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACGTTTAGAAGACTTTATGGC	0.274			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	1	Substitution - Missense(1)	ovary(1)	11											91	94	93					11																	108153482		2199	4293	6492	107658692	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3622G>C	11.37:g.108153482G>C	ENSP00000388058:p.Asp1208His		107658692	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642246	0.67244	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.75260	-0.92;-0.92;-0.92	5.38	5.38	0.77491	Armadillo-type fold (1);	0.270493	0.41097	D	0.000949	T	0.78110	0.4232	L	0.27053	0.805	0.34285	D	0.682581	D	0.76494	0.999	P	0.61132	0.884	D	0.84180	0.0439	10	0.66056	D	0.02	.	19.1226	0.93369	0.0:0.0:1.0:0.0	.	1208	Q13315	ATM_HUMAN	H	1208	ENSP00000435747:D1208H;ENSP00000278616:D1208H;ENSP00000388058:D1208H	ENSP00000278616:D1208H	D	+	1	0	ATM	107658692	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	5.143000	0.64826	2.544000	0.85801	0.591000	0.81541	GAC		0.274	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		C	108153482	G	C	108153482	3	2	74	1	0	0	0	0	1	0	0	0	1109	942	33	3	3716	3	ATM	11	108153482	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	30236451	108153482	26853034	45	3750											
DYRK2	8445	genome.wustl.edu	37	12	68051876	68051876	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr12:68051876G>T	ENST00000344096.3	+	3	1602	c.1189G>T	c.(1189-1191)Gcc>Tcc	p.A397S	DYRK2_ENST00000393555.3_Missense_Mutation_p.A324S|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	397	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.A397S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GATCCTTGGGGCCAGGTATGG	0.517																																																1	Substitution - Missense(1)	ovary(1)	12											73	68	69					12																	68051876		2203	4300	6503	66338143	SO:0001583	missense	8445			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1189G>T	12.37:g.68051876G>T	ENSP00000342105:p.Ala397Ser		66338143	B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	G	9.505	1.104343	0.20632	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.64260	-0.09;-0.09	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101148	0.64402	D	0.000002	T	0.43656	0.1257	N	0.05306	-0.075	0.58432	D	0.999999	B	0.06786	0.001	B	0.22601	0.04	T	0.31641	-0.9936	9	.	.	.	.	19.2898	0.94093	0.0:0.0:1.0:0.0	.	397	Q92630	DYRK2_HUMAN	S	397;324	ENSP00000342105:A397S;ENSP00000377186:A324S	.	A	+	1	0	DYRK2	66338143	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.716000	0.54904	2.736000	0.93811	0.305000	0.20034	GCC		0.517	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			T	68051876	G	T	68051876	3	4	74	1	0	0	0	0	1	0	0	0	4856	1203	42	3	1199	3	DYRK2	12	68051876	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09		68051876	65800019	46	3751											
TRPC4	7223	genome.wustl.edu	37	13	38225424	38225424	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr13:38225424G>T	ENST00000379705.3	-	8	2914	c.2057C>A	c.(2056-2058)cCa>cAa	p.P686Q	TRPC4_ENST00000447043.1_Missense_Mutation_p.P686Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.P686Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.P686Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.P686Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.P513Q|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.P513Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	686	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.P686Q(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAAACTTTCTGGCTTTCTTCT	0.373																																																1	Substitution - Missense(1)	ovary(1)	13											144	140	141					13																	38225424		2203	4300	6503	37123424	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2057C>A	13.37:g.38225424G>T	ENSP00000369027:p.Pro686Gln		37123424	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847004	0.51164	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	D;T;D;D;D;D;D	0.83163	-1.69;-1.19;-1.69;-1.69;-1.69;-1.69;-1.69	5.7	5.7	0.88788	.	0.215828	0.49916	D	0.000127	T	0.78304	0.4262	L	0.31804	0.96	0.80722	D	1	B;P;P;B;B	0.43701	0.418;0.815;0.672;0.027;0.415	B;B;P;B;B	0.44518	0.138;0.316;0.452;0.022;0.174	T	0.73723	-0.3893	10	0.10902	T	0.67	-21.0925	19.8336	0.96646	0.0:0.0:1.0:0.0	.	686;686;513;686;686	Q9UBN4-3;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	Q	686;686;513;513;686;686;686	ENSP00000369027:P686Q;ENSP00000369003:P686Q;ENSP00000342580:P513Q;ENSP00000369001:P513Q;ENSP00000348025:P686Q;ENSP00000351264:P686Q;ENSP00000414316:P686Q	ENSP00000342580:P513Q	P	-	2	0	TRPC4	37123424	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.179000	0.58290	2.701000	0.92244	0.561000	0.74099	CCA		0.373	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		T	38225424	G	T	38225424	3	4	74	1	0	0	0	0	1	0	0	0	16580	1348	47	3	907	3	TRPC4	13	38225424	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09		38225424	76944454	47	3752											
SLC38A6	145389	genome.wustl.edu	37	14	61545645	61545645	+	Splice_Site	SNP	G	G	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr14:61545645G>C	ENST00000354886.2	+	16	1572	c.1408G>C	c.(1408-1410)Gga>Cga	p.G470R	SLC38A6_ENST00000456840.2_Splice_Site_p.E447Q	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.G470R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		tgagactacaggtatgcgcca	0.532																																																1	Substitution - Missense(1)	ovary(1)	14																																								60615398	SO:0001630	splice_region_variant	145389			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000354886.2:c.1408+1G>C	14.37:g.61545645G>C			60615398	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000354886.2	37	CCDS53900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.812|3.812	-0.039526|-0.039526	0.07497|0.07497	.|.	.|.	ENSG00000139974|ENSG00000139974	ENST00000456840|ENST00000354886;ENST00000451406	T|T;T	0.14144|0.24151	2.53|1.87;1.87	0.225|0.225	0.225|0.225	0.15325|0.15325	.|.	.|1.932510	.|0.03092	.|N	.|0.159967	T|T	0.29652|0.29652	0.0740|0.0740	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P|D	0.39094|0.69078	0.659|0.997	B|D	0.42959|0.72982	0.403|0.979	T|T	0.35500|0.35500	-0.9786|-0.9786	8|9	0.35671|0.59425	T|D	0.21|0.04	.|.	.|.	.|.	.|.	.|.	447|470	E7ETF2|Q8IZM9-2	.|.	Q|R	447|470;465	ENSP00000413863:E447Q|ENSP00000346959:G470R;ENSP00000395851:G465R	ENSP00000413863:E447Q|ENSP00000346959:G470R	E|G	+|+	1|1	0|0	SLC38A6|SLC38A6	60615398|60615398	0.010000|0.010000	0.17322|0.17322	0.011000|0.011000	0.14972|0.14972	0.011000|0.011000	0.07611|0.07611	0.364000|0.364000	0.20325|0.20325	0.300000|0.300000	0.22699|0.22699	0.305000|0.305000	0.20034|0.20034	GAA|GGA		0.532	SLC38A6-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Missense_Mutation	C	61545645	G	C	61545645	5	2	74	1	0	0	0	0	0	0	1	0	14611	1014	35	3	1555	3	SLC38A6	14	61545645	Splice_Site	SNP	G	TCGA-13-0726-01A-01W-0372-09		61545645	45803895	48	3753											
GPR132	29933	genome.wustl.edu	37	14	105518008	105518008	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr14:105518008G>A	ENST00000329797.3	-	4	1377	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	GPR132_ENST00000539291.2_Missense_Mutation_p.R156W|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.R147W	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	156	Poly-Arg.				G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R156W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCGGTCCTCCGGCGGCGGCGG	0.612																																																1	Substitution - Missense(1)	ovary(1)	14											59	56	57					14																	105518008		2203	4300	6503	104589053	SO:0001583	missense	29933			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.466C>T	14.37:g.105518008G>A	ENSP00000328818:p.Arg156Trp		104589053	A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680597	0.47886	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.73152	-0.72;-0.72;-0.72	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	1.334730	0.04858	N	0.443579	T	0.76772	0.4034	L	0.54965	1.715	0.09310	N	1	P;P	0.52316	0.845;0.952	P;P	0.46975	0.533;0.533	T	0.69599	-0.5102	10	0.66056	D	0.02	.	17.2051	0.86915	0.0:0.0:1.0:0.0	.	147;156	B4E144;Q9UNW8	.;GP132_HUMAN	W	156;147;156	ENSP00000328818:R156W;ENSP00000376364:R147W;ENSP00000438094:R156W	ENSP00000328818:R156W	R	-	1	2	GPR132	104589053	0.225000	0.23685	0.266000	0.24541	0.270000	0.26580	3.499000	0.53310	2.283000	0.76528	0.563000	0.77884	CGG		0.612	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		A	105518008	G	A	105518008	3	1	74	1	0	0	0	0	1	0	0	0	6642	1115	39	1	680	1	GPR132	14	105518008	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	43972363	105518008	1831532	49	3754											
TMEM87A	25963	genome.wustl.edu	37	15	42529628	42529628	+	Splice_Site	SNP	A	A	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr15:42529628A>T	ENST00000389834.4	-	9	1133		c.e9+1		TMEM87A_ENST00000448392.1_Splice_Site	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A							integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CTGGTTACTTACCAGATTCTC	0.398																																																1	Unknown(1)	ovary(1)	15											103	93	96					15																	42529628		2203	4299	6502	40316920	SO:0001630	splice_region_variant	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.868+1T>A	15.37:g.42529628A>T			40316920	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Splice_Site	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071916	0.76301	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.953	0.79859	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM87A	40316920	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.339000	0.96797	2.174000	0.68829	0.383000	0.25322	.		0.398	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497	Intron	T	42529628	A	T	42529628	5	4	74	1	0	0	0	0	0	0	1	0	16210	405	14	5	845	5	TMEM87A	15	42529628	Splice_Site	SNP	A	TCGA-13-0726-01A-01W-0372-09		42529628	60001764	50	3755											
TUBGCP4	27229	genome.wustl.edu	37	15	43672342	43672342	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr15:43672342G>A	ENST00000260383.7	+	6	756	c.502G>A	c.(502-504)Gtt>Att	p.V168I	TUBGCP4_ENST00000564079.1_Missense_Mutation_p.V168I|TUBGCP4_ENST00000399460.3_Missense_Mutation_p.V32I			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	168					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.V168I(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTTGCCTCCTGTTCGAAGTGC	0.438																																																1	Substitution - Missense(1)	ovary(1)	15											84	86	85					15																	43672342		1892	4106	5998	41459634	SO:0001583	missense	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.502G>A	15.37:g.43672342G>A	ENSP00000260383:p.Val168Ile		41459634	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.087850	0.76642	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.07567	3.18;3.18	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	L	0.37507	1.11	0.58432	D	0.999999	B;B	0.27264	0.173;0.069	B;B	0.31101	0.124;0.076	T	0.16453	-1.0402	10	0.33940	T	0.23	-19.4403	19.2318	0.93843	0.0:0.0:1.0:0.0	.	168;168	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	I	168;32	ENSP00000260383:V168I;ENSP00000382387:V32I	ENSP00000260383:V168I	V	+	1	0	TUBGCP4	41459634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.388000	0.97237	2.865000	0.98341	0.655000	0.94253	GTT		0.438	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		A	43672342	G	A	43672342	3	1	74	1	0	0	0	0	1	0	0	0	16768	1377	48	2	524	2	TUBGCP4	15	43672342	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	1142714	43672342	58859050	51	3756											
TCF12	6938	genome.wustl.edu	37	15	57356019	57356019	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr15:57356019A>G	ENST00000267811.5	+	4	524	c.220A>G	c.(220-222)Aga>Gga	p.R74G	TCF12_ENST00000557843.1_Missense_Mutation_p.R74G|TCF12_ENST00000333725.5_Missense_Mutation_p.R74G|TCF12_ENST00000438423.2_Missense_Mutation_p.R74G|TCF12_ENST00000452095.2_Intron	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	74					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R74G(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TGATTCATCTAGAGTAAGTTT	0.323			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	1	Substitution - Missense(1)	ovary(1)	15											145	140	142					15																	57356019		2192	4292	6484	55143311	SO:0001583	missense	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.220A>G	15.37:g.57356019A>G	ENSP00000267811:p.Arg74Gly		55143311	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.450094	0.63290	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000333725	T;T;T	0.52526	0.66;0.66;0.66	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.72353	2.195	0.80722	D	1	D;D;D	0.57899	0.981;0.967;0.981	D;P;D	0.69142	0.962;0.879;0.943	T	0.69614	-0.5098	10	0.66056	D	0.02	-14.6528	13.5407	0.61672	1.0:0.0:0.0:0.0	.	126;74;74	F5H6Z6;Q99081;Q99081-3	.;HTF4_HUMAN;.	G	126;74;74;74	ENSP00000267811:R74G;ENSP00000388940:R74G;ENSP00000331057:R74G	ENSP00000267811:R74G	R	+	1	2	TCF12	55143311	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.126000	0.57937	2.130000	0.65690	0.477000	0.44152	AGA		0.323	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		G	57356019	A	G	57356019	3	3	74	1	0	0	0	0	1	0	0	0	15687	412	15	4	230	4	TCF12	15	57356019	Missense_Mutation	SNP	A	TCGA-13-0726-01A-01W-0372-09	13683677	57356019	45175373	52	3757											
OR4F6	390648	genome.wustl.edu	37	15	102346250	102346250	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr15:102346250A>T	ENST00000328882.4	+	1	349	c.328A>T	c.(328-330)Act>Tct	p.T110S		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T110S(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGTTGGGGGAACTGAGATGGT	0.468																																																1	Substitution - Missense(1)	ovary(1)	15											206	187	194					15																	102346250		2203	4300	6503	100163773	SO:0001583	missense	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.328A>T	15.37:g.102346250A>T	ENSP00000327525:p.Thr110Ser		100163773	B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.598831	0.00857	.	.	ENSG00000184140	ENST00000328882	T	0.01725	4.67	4.78	-2.47	0.06442	GPCR, rhodopsin-like superfamily (1);	0.636179	0.14709	N	0.303071	T	0.01156	0.0038	N	0.25332	0.735	0.09310	N	1	B	0.18310	0.027	B	0.19946	0.027	T	0.48779	-0.9005	10	0.08599	T	0.76	.	6.2777	0.20989	0.4908:0.1353:0.3739:0.0	.	110	Q8NGB9	OR4F6_HUMAN	S	110	ENSP00000327525:T110S	ENSP00000327525:T110S	T	+	1	0	OR4F6	100163773	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.669000	0.05262	-0.401000	0.07644	0.482000	0.46254	ACT		0.468	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			T	102346250	A	T	102346250	3	4	74	1	0	0	0	0	1	0	0	0	11066	43	2	5	330	5	OR4F6	15	102346250	Missense_Mutation	SNP	A	TCGA-13-0726-01A-01W-0372-09	44990231	102346250	185142	53	3758											
NLRC5	84166	genome.wustl.edu	37	16	57070034	57070034	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr16:57070034G>A	ENST00000262510.6	+	14	2875	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	NLRC5_ENST00000308149.7_Missense_Mutation_p.D884N|NLRC5_ENST00000539144.1_Missense_Mutation_p.D884N|NLRC5_ENST00000436936.1_Missense_Mutation_p.D884N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	884					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.D884N(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGCTGGAAGATGAAGGCTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	16											54	50	51					16																	57070034		2198	4300	6498	55627535	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2650G>A	16.37:g.57070034G>A	ENSP00000262510:p.Asp884Asn		55627535	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273351|4.273351	0.80580|0.80580	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.70399|.	0.36;0.36;0.36;0.36;0.36;-0.48|.	5.08|5.08	4.12|4.12	0.48240|0.48240	.|.	0.222353|.	0.22757|.	N|.	0.056012|.	T|T	0.62417|0.62417	0.2426|0.2426	M|M	0.83953|0.83953	2.67|2.67	0.25387|0.25387	N|N	0.98857|0.98857	D;D;P;D|.	0.89917|.	1.0;0.998;0.918;0.998|.	D;D;P;D|.	0.81914|.	0.995;0.985;0.896;0.982|.	T|T	0.56288|0.56288	-0.8004|-0.8004	10|5	0.54805|.	T|.	0.06|.	.|.	11.1888|11.1888	0.48673|0.48673	0.0847:0.0:0.9153:0.0|0.0847:0.0:0.9153:0.0	.|.	884;884;884;884|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	N|K	884;884;884;358;884;391;183|636	ENSP00000262510:D884N;ENSP00000308886:D884N;ENSP00000389739:D884N;ENSP00000441727:D884N;ENSP00000441597:D391N;ENSP00000440153:D183N|.	ENSP00000262510:D884N|.	D|R	+|+	1|2	0|0	NLRC5|NLRC5	55627535|55627535	1.000000|1.000000	0.71417|0.71417	0.586000|0.586000	0.28679|0.28679	0.959000|0.959000	0.62525|0.62525	3.160000|3.160000	0.50739|0.50739	1.375000|1.375000	0.46248|0.46248	0.561000|0.561000	0.74099|0.74099	GAT|AGA		0.607	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57070034	G	A	57070034	3	1	74	1	0	0	0	0	1	0	0	0	10470	942	33	2	2696	2	NLRC5	16	57070034	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09		57070034	33284719	54	3759											
TP53	7157	genome.wustl.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	17	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	7517819	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		7517819	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	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	74	1	0	0	0	0	1	0	0	0	16381	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09		7577094	73618116	55	3760											
CDC27	996	genome.wustl.edu	37	17	45221247	45221247	+	Splice_Site	SNP	A	A	G	rs75932008		TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr17:45221247A>G	ENST00000066544.3	-	10	1264		c.e10+1		CDC27_ENST00000531206.1_Splice_Site|CDC27_ENST00000446365.2_Splice_Site|CDC27_ENST00000527547.1_Splice_Site	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.?(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCTTTAAATTACCTTGGTTGT	0.403																																																1	Unknown(1)	ovary(1)	17											41	41	41					17																	45221247		2203	4300	6503	42576246	SO:0001630	splice_region_variant	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1170+1T>C	17.37:g.45221247A>G			42576246	G3V1C4|Q16349|Q96F35	Splice_Site	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157642	0.78114	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6198	0.39714	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC27	42576246	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.228000	0.95250	2.048000	0.60808	0.374000	0.22700	.		0.403	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		Intron	G	45221247	A	G	45221247	5	3	74	1	0	0	0	0	0	0	1	0	3066	405	14	4	1342	4	CDC27	17	45221247	Splice_Site	SNP	A	TCGA-13-0726-01A-01W-0372-09	37644153	45221247	35973963	56	3761											
MYST2	11143	genome.wustl.edu	37	17	47893247	47893247	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr17:47893247G>C	ENST00000259021.4	+	8	1215	c.935G>C	c.(934-936)aGa>aCa	p.R312T	KAT7_ENST00000509773.1_Missense_Mutation_p.R202T|KAT7_ENST00000424009.2_Missense_Mutation_p.R282T|KAT7_ENST00000510819.1_Missense_Mutation_p.R143T|KAT7_ENST00000435742.2_Missense_Mutation_p.R126T|KAT7_ENST00000454930.2_Missense_Mutation_p.R173T|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000503935.2_Missense_Mutation_p.R156T	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	312					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R312T(1)									CTTTTCCGAAGAGCACAAGCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	17											76	76	76					17																	47893247		2203	4300	6503	45248246	SO:0001583	missense	11143			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.935G>C	17.37:g.47893247G>C	ENSP00000259021:p.Arg312Thr		45248246	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423991	0.62733	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.36	5.36	0.76844	.	0.044252	0.85682	D	0.000000	T	0.41581	0.1165	N	0.11201	0.11	0.48135	D	0.999598	B;B;B;B;B;B	0.28233	0.033;0.069;0.204;0.116;0.069;0.044	B;B;B;B;B;B	0.20955	0.012;0.03;0.032;0.03;0.03;0.032	T	0.40403	-0.9565	9	0.62326	D	0.03	-16.8409	18.8697	0.92308	0.0:0.0:1.0:0.0	.	275;143;202;173;312;282	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	T	312;173;202;143;282;156;126	.	ENSP00000259021:R312T	R	+	2	0	KAT7	45248246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.720000	0.74723	2.788000	0.95919	0.650000	0.86243	AGA		0.458	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		C	47893247	G	C	47893247	3	2	74	1	0	0	0	0	1	0	0	0	10103	942	33	3	965	3	MYST2	17	47893247	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	2672000	47893247	33301963	57	3762											
HLF	3131	genome.wustl.edu	37	17	53392722	53392722	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr17:53392722C>G	ENST00000226067.5	+	3	1059	c.586C>G	c.(586-588)Cgc>Ggc	p.R196G	HLF_ENST00000573945.1_Missense_Mutation_p.R111G|HLF_ENST00000430986.2_Missense_Mutation_p.R111G|HLF_ENST00000575345.1_Missense_Mutation_p.R111G	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	196	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R196G(1)		large_intestine(1)|ovary(2)	3						GTTTGACCCTCGCAAACGCAA	0.512			T	TCF3	ALL																																		Dom	yes		17	17q22	3131	hepatic leukemia factor		L	1	Substitution - Missense(1)	ovary(1)	17											100	93	95					17																	53392722		2203	4300	6503	50747721	SO:0001583	missense	3131				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.586C>G	17.37:g.53392722C>G	ENSP00000226067:p.Arg196Gly		50747721	A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963967	0.74131	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.81914	0.9;0.995	T	0.81389	-0.0955	9	0.56958	D	0.05	.	13.5681	0.61830	0.1552:0.8448:0.0:0.0	.	144;196	B4DIQ5;Q16534	.;HLF_HUMAN	G	196;111	.	ENSP00000226067:R196G	R	+	1	0	HLF	50747721	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.095000	0.50235	2.644000	0.89710	0.655000	0.94253	CGC		0.512	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		G	53392722	C	G	53392722	3	3	74	1	0	0	0	0	1	0	0	0	7214	884	31	3	596	3	HLF	17	53392722	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	5499475	53392722	27802488	58	3763											
UNK	85451	genome.wustl.edu	37	17	73816190	73816190	+	Splice_Site	SNP	G	G	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr17:73816190G>C	ENST00000589666.1	+	13	1947		c.e13+1		UNK_ENST00000293218.3_Splice_Site|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGATCTTTGGGTAAGAGAGGG	0.577																																																0			17											69	70	69					17																	73816190		1994	4167	6161	71327785	SO:0001630	splice_region_variant	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1837+1G>C	17.37:g.73816190G>C			71327785		Splice_Site	SNP	ENST00000589666.1	37	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759329	0.49468	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1961	0.86893	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNK	71327785	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	8.554000	0.90689	2.297000	0.77311	0.563000	0.77884	.		0.577	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419	Intron	C	73816190	G	C	73816190	5	2	74	1	0	0	0	0	0	0	1	0	17000	1275	44	3	2120	3	UNK	17	73816190	Splice_Site	SNP	G	TCGA-13-0726-01A-01W-0372-09	20423468	73816190	7379020	59	3764											
RNF157	114804	genome.wustl.edu	37	17	74160863	74160863	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr17:74160863G>T	ENST00000269391.6	-	8	818	c.686C>A	c.(685-687)aCt>aAt	p.T229N	RNF157_ENST00000319945.6_Missense_Mutation_p.T229N	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	229							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GACACAGAAAGTTCCATCTGT	0.398																																					GBM(186;507 2120 27388 27773 52994)											0			17											98	93	95					17																	74160863		2203	4300	6503	71672458	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.686C>A	17.37:g.74160863G>T	ENSP00000269391:p.Thr229Asn		71672458	Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947705	0.53186	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.23754	1.89;1.91	5.58	5.58	0.84498	.	0.040960	0.85682	D	0.000000	T	0.20007	0.0481	N	0.20685	0.6	0.80722	D	1	P;B	0.44521	0.837;0.024	B;B	0.42030	0.373;0.017	T	0.01679	-1.1297	10	0.48119	T	0.1	-31.2919	14.4621	0.67456	0.0:0.2694:0.7306:0.0	.	229;229	Q96PX1-2;Q96PX1	.;RN157_HUMAN	N	229;229;191	ENSP00000269391:T229N;ENSP00000321837:T229N	ENSP00000269391:T229N	T	-	2	0	RNF157	71672458	1.000000	0.71417	0.969000	0.41365	0.998000	0.95712	4.706000	0.61845	2.598000	0.87819	0.655000	0.94253	ACT		0.398	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		T	74160863	G	T	74160863	3	4	74	1	0	0	0	0	1	0	0	0	13457	1029	36	3	1401	3	RNF157	17	74160863	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	344673	74160863	7034347	60	3765											
MUC16	94025	genome.wustl.edu	37	19	8998702	8998702	+	Silent	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr19:8998702G>A	ENST00000397910.4	-	58	41084	c.40881C>T	c.(40879-40881)ccC>ccT	p.P13627P	MUC16_ENST00000380951.5_Silent_p.P268P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13629				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P312P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTACCCGAGGGACCAGGTT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	19											52	48	49					19																	8998702		1860	4102	5962	8859702	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40881C>T	19.37:g.8998702G>A			8859702	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.054	-0.417120	0.04766	.	.	ENSG00000181143	ENST00000542240	.	.	.	0.798	-0.425	0.12317	.	.	.	.	.	T	0.36331	0.0963	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45160	-0.9280	4	0.62326	D	0.03	.	3.1915	0.06619	0.3356:0.0:0.6644:0.0	.	.	.	.	L	467	.	ENSP00000370334:P467L	P	-	2	0	MUC16	8859702	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	-0.409000	0.07160	-0.080000	0.12685	0.430000	0.28490	CCT		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8998702	G	A	8998702	2	1	74	1	0	0	0	0	0	0	0	1	9973	987	35	2		2	MUC16	19	8998702	Silent	SNP	G	TCGA-13-0726-01A-01W-0372-09		8998702	50130281	61	3766											
LPHN1	22859	genome.wustl.edu	37	19	14263354	14263354	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr19:14263354G>C	ENST00000340736.6	-	21	3807	c.3510C>G	c.(3508-3510)atC>atG	p.I1170M	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.I1165M|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1170					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.I1170M(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTGCTGTTGATGTCACCCG	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											90	80	83					19																	14263354		2203	4300	6503	14124354	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3510C>G	19.37:g.14263354G>C	ENSP00000340688:p.Ile1170Met		14124354	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562655	0.45694	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.77229	-1.08;-1.08	5.47	5.47	0.80525	GPCR, family 2, latrophilin, C-terminal (1);	0.059672	0.64402	D	0.000004	T	0.79058	0.4382	L	0.42245	1.32	0.40683	D	0.982321	P;P	0.48350	0.909;0.457	P;B	0.55222	0.771;0.37	T	0.79848	-0.1630	10	0.52906	T	0.07	.	10.2862	0.43568	0.0897:0.0:0.9103:0.0	.	1165;1170	O94910-2;O94910	.;LPHN1_HUMAN	M	1170;1165	ENSP00000340688:I1170M;ENSP00000355328:I1165M	ENSP00000340688:I1170M	I	-	3	3	LPHN1	14124354	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.314000	0.43743	2.571000	0.86741	0.561000	0.74099	ATC		0.567	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		C	14263354	G	C	14263354	3	2	74	1	0	0	0	0	1	0	0	0	8915	1280	45	3	930	3	LPHN1	19	14263354	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	5264652	14263354	44865629	62	3767											
KCNN1	3780	genome.wustl.edu	37	19	18100588	18100588	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr19:18100588G>C	ENST00000222249.9	+	8	1553	c.1234G>C	c.(1234-1236)Gtg>Ctg	p.V412L		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	412	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.V429L(1)		endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	TACCAGGCTGGTGAAGAAGCC	0.527																																																1	Substitution - Missense(1)	ovary(1)	19											111	116	114					19																	18100588		2045	4235	6280	17961588	SO:0001583	missense	3780			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1234G>C	19.37:g.18100588G>C	ENSP00000476519:p.Val412Leu		17961588	Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37		.	.	.	.	.	.	.	.	.	.	G	13.53	2.263827	0.39995	.	.	ENSG00000105642	ENST00000222249	.	.	.	4.61	3.42	0.39159	Calmodulin-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.69823	2.125	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.51733	-0.8668	9	0.24483	T	0.36	-16.9475	10.2844	0.43558	0.1092:0.0:0.8908:0.0	.	412	Q92952	KCNN1_HUMAN	L	429	.	ENSP00000222249:V429L	V	+	1	0	KCNN1	17961588	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.563000	0.45922	0.743000	0.32719	0.561000	0.74099	GTG		0.527	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		C	18100588	G	C	18100588	3	2	74	1	0	0	0	0	1	0	0	0	8078	1261	44	3	1256	3	KCNN1	19	18100588	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	3837234	18100588	41028395	63	3768											
C19orf2	8725	genome.wustl.edu	37	19	30502055	30502055	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr19:30502055G>A	ENST00000542441.2	+	9	1387	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	URI1_ENST00000360605.4_Missense_Mutation_p.E346K|URI1_ENST00000392271.1_Missense_Mutation_p.E288K|URI1_ENST00000312051.6_Missense_Mutation_p.E324K			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	364					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.E364K(1)									AAAGAAAGAAGAAGCCAAACG	0.423																																																1	Substitution - Missense(1)	ovary(1)	19											82	87	86					19																	30502055		2203	4300	6503	35193895	SO:0001583	missense	8725			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1090G>A	19.37:g.30502055G>A	ENSP00000442436:p.Glu364Lys		35193895	A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493585	0.84962	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.50548	0.74	5.92	5.92	0.95590	.	0.050408	0.85682	D	0.000000	T	0.65386	0.2686	M	0.61703	1.905	0.45554	D	0.998506	D;D;D	0.63880	0.993;0.991;0.991	P;P;P	0.61275	0.886;0.867;0.867	T	0.59306	-0.7479	10	0.35671	T	0.21	-27.4409	20.3172	0.98658	0.0:0.0:1.0:0.0	.	324;364;361	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	K	362;288;364;324	ENSP00000442436:E364K	ENSP00000312530:E324K	E	+	1	0	C19orf2	35193895	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.546000	0.73887	2.801000	0.96364	0.650000	0.86243	GAA		0.423	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		A	30502055	G	A	30502055	3	1	74	1	0	0	0	0	1	0	0	0	1911	943	33	2	1124	2	C19orf2	19	30502055	Missense_Mutation	SNP	G	TCGA-13-0726-01A-01W-0372-09	12401467	30502055	28626928	64	3769											
KRTAP10-11	386678	genome.wustl.edu	37	21	46066408	46066408	+	Silent	SNP	C	C	T	rs587690905		TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chr21:46066408C>T	ENST00000334670.8	+	1	78	c.33C>T	c.(31-33)agC>agT	p.S11S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	11						keratin filament (GO:0045095)		p.S11S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCTGCTCCAGCGCTTACTCCG	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		14608	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	21											69	74	72					21																	46066408		2203	4298	6501	44890836	SO:0001819	synonymous_variant	386678			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.33C>T	21.37:g.46066408C>T			44890836	A2RRF9	Silent	SNP	ENST00000334670.8	37	CCDS42962.1																																																																																				0.672	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		T	46066408	C	T	46066408	2	4	74	1	0	0	0	0	0	0	0	1	8507	767	27	1		1	KRTAP10-11	21	46066408	Silent	SNP	C	TCGA-13-0726-01A-01W-0372-09		46066408	2063487	65	3770											
HEPH	9843	genome.wustl.edu	37	X	65417690	65417690	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chrX:65417690C>T	ENST00000343002.2	+	9	2331	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	HEPH_ENST00000441993.2_Missense_Mutation_p.P559L|HEPH_ENST00000336279.5_Missense_Mutation_p.P289L|HEPH_ENST00000519389.1_Missense_Mutation_p.P610L|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.P559L			Q9BQS7	HEPH_HUMAN	hephaestin	556	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.P556L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGTGGGCCCGCTGCTGGTG	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											53	41	45					X																	65417690		2203	4300	6503	65334415	SO:0001583	missense	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1667C>T	X.37:g.65417690C>T	ENSP00000343939:p.Pro556Leu		65334415	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	C	18.51	3.639485	0.67244	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99311	-5.73;-5.73;-5.73;-5.73;-5.73;-5.73	5.62	5.62	0.85841	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99470	1.0945	10	0.54805	T	0.06	.	17.1383	0.86745	0.0:1.0:0.0:0.0	.	610;556	E9PHN8;Q9BQS7	.;HEPH_HUMAN	L	610;559;289;559;556;513	ENSP00000430620:P610L;ENSP00000363859:P559L;ENSP00000337418:P289L;ENSP00000411687:P559L;ENSP00000343939:P556L;ENSP00000398078:P513L	ENSP00000337418:P289L	P	+	2	0	HEPH	65334415	1.000000	0.71417	0.962000	0.40283	0.262000	0.26303	7.069000	0.76755	2.370000	0.80446	0.544000	0.68410	CCG		0.572	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65417690	C	T	65417690	3	4	74	1	0	0	0	0	1	0	0	0	7054	652	23	1	1867	1	HEPH	23	65417690	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09		65417690	89852870	66	3771											
FAM155B	27112	genome.wustl.edu	37	X	68749521	68749521	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chrX:68749521A>G	ENST00000252338.4	+	3	1183	c.1141A>G	c.(1141-1143)Acc>Gcc	p.T381A		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	382						integral component of membrane (GO:0016021)		p.T381A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GGCCCCCAAAACccaccagca	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											234	153	180					X																	68749521		2203	4299	6502	68666246	SO:0001583	missense	27112			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.1141A>G	X.37:g.68749521A>G	ENSP00000252338:p.Thr381Ala		68666246	B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	A	9.500	1.103005	0.20632	.	.	ENSG00000130054	ENST00000252338	T	0.43294	0.95	2.8	2.8	0.32819	.	0.085101	0.43260	D	0.000592	T	0.21267	0.0512	N	0.12182	0.205	0.42268	D	0.992049	B	0.26602	0.154	B	0.20955	0.032	T	0.06232	-1.0838	10	0.30078	T	0.28	-6.9442	8.5491	0.33440	1.0:0.0:0.0:0.0	.	381	O75949-2	.	A	381	ENSP00000252338:T381A	ENSP00000252338:T381A	T	+	1	0	FAM155B	68666246	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.208000	0.65203	1.360000	0.45960	0.425000	0.28330	ACC		0.537	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		G	68749521	A	G	68749521	3	3	74	1	0	0	0	0	1	0	0	0	5466	43	2	4	1151	4	FAM155B	23	68749521	Missense_Mutation	SNP	A	TCGA-13-0726-01A-01W-0372-09	3331831	68749521	86521039	67	3772											
RAP2C	57826	genome.wustl.edu	37	X	131348288	131348288	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0726-01A-01W-0372-09	TCGA-13-0726-10B-01W-0977-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	201415c2-5b5a-4bb8-8005-bf2c78d4d88e	df694f1a-e6a5-4c06-bf79-5fe57cfcba13	g.chrX:131348288C>G	ENST00000342983.2	-	3	1206	c.460G>C	c.(460-462)Gat>Cat	p.D154H	RAP2C_ENST00000370874.1_Missense_Mutation_p.D154H|RAP2C_ENST00000460462.1_5'UTR|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	154					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)	p.D154H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTTCATCCACCATTGAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	X											146	120	128					X																	131348288		2203	4300	6503	131175969	SO:0001583	missense	57826			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.460G>C	X.37:g.131348288C>G	ENSP00000340274:p.Asp154His		131175969	B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397259	0.83120	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.77620	-1.11;-1.11	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	M	0.77616	2.38	0.58432	D	0.999999	D	0.76494	0.999	D	0.68943	0.961	D	0.89272	0.3605	10	0.66056	D	0.02	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	154	Q9Y3L5	RAP2C_HUMAN	H	154	ENSP00000340274:D154H;ENSP00000359911:D154H	ENSP00000340274:D154H	D	-	1	0	RAP2C	131175969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.448000	0.80631	2.363000	0.80096	0.556000	0.70494	GAT		0.448	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		G	131348288	C	G	131348288	3	3	74	1	0	0	0	0	1	0	0	0	13045	855	30	3	95	3	RAP2C	23	131348288	Missense_Mutation	SNP	C	TCGA-13-0726-01A-01W-0372-09	62598767	131348288	23922272	68	3773											
LPHN2	23266	hgsc.bcm.edu	37	1	82456176	82456176	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr1:82456176G>A	ENST00000370728.1	+	25	4372	c.3727G>A	c.(3727-3729)Gac>Aac	p.D1243N	LPHN2_ENST00000370721.1_Missense_Mutation_p.D1168N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1258N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1200N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D1245N|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1258N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1245N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D1187N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D1187N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1200N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1215N|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1215N			O95490	LPHN2_HUMAN	latrophilin 2	1243					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D1187N(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGACTATAATGACAGCGTGCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											131	123	126					1																	82456176		2203	4300	6503	82228764	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3727G>A	1.37:g.82456176G>A	ENSP00000359763:p.Asp1243Asn		82228764	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.398|9.398	1.077383|1.077383	0.20227|0.20227	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T|.	0.72051|.	-0.49;-0.52;-0.62;-0.51;-0.45;-0.41;-0.58;-0.58;-0.45;-0.41;-0.51;-0.62|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.323797|.	0.32175|.	N|.	0.006469|.	T|T	0.58264|0.58264	0.2110|0.2110	L|L	0.39633|0.39633	1.23|1.23	0.80722|0.80722	D|D	1|1	P;B|.	0.44521|.	0.837;0.163|.	P;B|.	0.50314|.	0.637;0.136|.	T|T	0.54214|0.54214	-0.8327|-0.8327	10|5	0.30854|.	T|.	0.27|.	.|.	19.4713|19.4713	0.94963|0.94963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1187;167|.	O95490-2;B3KVU1|.	.;.|.	N|I	1168;1243;1200;1215;1258;1245;1187;1187;1258;1245;1215;1200|1134	ENSP00000359756:D1168N;ENSP00000359763:D1243N;ENSP00000359765:D1200N;ENSP00000359762:D1215N;ENSP00000359760:D1258N;ENSP00000359758:D1245N;ENSP00000353006:D1187N;ENSP00000322270:D1187N;ENSP00000359752:D1258N;ENSP00000378344:D1245N;ENSP00000271029:D1215N;ENSP00000337306:D1200N|.	ENSP00000271029:D1215N|.	D|M	+|+	1|3	0|0	LPHN2|LPHN2	82228764|82228764	1.000000|1.000000	0.71417|0.71417	0.674000|0.674000	0.29902|0.29902	0.076000|0.076000	0.17211|0.17211	9.476000|9.476000	0.97823|0.97823	2.587000|2.587000	0.87381|0.87381	0.563000|0.563000	0.77884|0.77884	GAC|ATG		0.428	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		A	82456176	G	A	82456176	3	1	75	1	0	0	0	0	1	0	0	0	8916	1290	45	2	3633	2	LPHN2	1	82456176	Missense_Mutation	SNP	G	TCGA-13-0727-01A-01W-0370-10		82456176	166794445	1	3774											
SPRR1B	6699	hgsc.bcm.edu	37	1	153004926	153004926	+	Silent	SNP	C	C	T	rs17880894	byFrequency	TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr1:153004926C>T	ENST00000307098.4	+	2	170	c.105C>T	c.(103-105)ccC>ccT	p.P35P	SPRR1B_ENST00000392661.3_Silent_p.P35P	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	35	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.P35P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGCATCCCCAAAACCAAGG	0.642																																																1	Substitution - coding silent(1)	ovary(1)	1											148	146	147					1																	153004926		2203	4300	6503	151271550	SO:0001819	synonymous_variant	6699			M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"cornifin"	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.105C>T	1.37:g.153004926C>T			151271550	B2R5H7|P22529|P22530|Q5T524	Silent	SNP	ENST00000307098.4	37	CCDS30863.1																																																																																				0.642	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		T	153004926	C	T	153004926	2	4	75	1	0	0	0	0	0	0	0	1	15098	581	21	2		2	SPRR1B	1	153004926	Silent	SNP	C	TCGA-13-0727-01A-01W-0370-10	70548750	153004926	96245695	2	3775											
RAD51AP2	729475	hgsc.bcm.edu	37	2	17692185	17692185	+	Silent	SNP	C	C	T			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr2:17692185C>T	ENST00000399080.2	-	3	3389	c.3366G>A	c.(3364-3366)ccG>ccA	p.P1122P		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1122	Interaction with RAD51.							p.P1122P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATGTCTTAAGCGGTCGTACTC	0.328																																																1	Substitution - coding silent(1)	ovary(1)	2											117	104	108					2																	17692185		1834	4086	5920	17555666	SO:0001819	synonymous_variant	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3366G>A	2.37:g.17692185C>T			17555666		Silent	SNP	ENST00000399080.2	37	CCDS42656.1																																																																																				0.328	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		T	17692185	C	T	17692185	2	4	75	1	0	0	0	0	0	0	0	1	12990	755	27	1		1	RAD51AP2	2	17692185	Silent	SNP	C	TCGA-13-0727-01A-01W-0370-10		17692185	225507188	3	3776											
STK11IP	114790	hgsc.bcm.edu	37	2	220462835	220462835	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr2:220462835C>A	ENST00000456909.1	+	0	84				STK11IP_ENST00000295641.10_Silent_p.P9P			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein						protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.P9P(1)|p.P6P(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCGTCCCGTGGCCATGA	0.692																																																2	Substitution - coding silent(2)	ovary(2)	2											16	18	17					2																	220462835		1878	4083	5961	220171079			114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239		2.37:g.220462835C>A			220171079	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37																																																																																					0.692	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		A	220462835	C	A	220462835	1	1	75	1	0	1	0	0	0	0	0	0	15290	639	23	3		3	STK11IP	2	220462835	De_novo_Start_InFrame	SNP	C	TCGA-13-0727-01A-01W-0370-10	202770650	220462835	22736538	4	3777											
SLC19A3	80704	hgsc.bcm.edu	37	2	228563705	228563705	+	Silent	SNP	C	C	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr2:228563705C>A	ENST00000258403.3	-	3	797	c.726G>T	c.(724-726)ggG>ggT	p.G242G	SLC19A3_ENST00000541617.1_Silent_p.G238G|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	242					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.G242G(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TATTCAGCTTCCCTGAAGTGC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	2											146	128	134					2																	228563705		2203	4300	6503	228271949	SO:0001819	synonymous_variant	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.726G>T	2.37:g.228563705C>A			228271949		Silent	SNP	ENST00000258403.3	37	CCDS2468.1																																																																																				0.473	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			A	228563705	C	A	228563705	2	1	75	1	0	0	0	0	0	0	0	1	14433	842	30	3		3	SLC19A3	2	228563705	Silent	SNP	C	TCGA-13-0727-01A-01W-0370-10	8100870	228563705	14635668	5	3778											
ZNF445	353274	hgsc.bcm.edu	37	3	44492426	44492426	+	Silent	SNP	A	A	G			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr3:44492426A>G	ENST00000396077.2	-	5	974	c.627T>C	c.(625-627)ctT>ctC	p.L209L	ZNF445_ENST00000425708.2_Silent_p.L209L	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	209					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L209L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTCTCGGGAAAAGGGCAGGCA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	3											61	55	57					3																	44492426		2203	4300	6503	44467430	SO:0001819	synonymous_variant	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.627T>C	3.37:g.44492426A>G			44467430	Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																				0.592	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		G	44492426	A	G	44492426	2	3	75	1	0	0	0	0	0	0	0	1	17918	1	1	4		4	ZNF445	3	44492426	Silent	SNP	A	TCGA-13-0727-01A-01W-0370-10		44492426	153530004	6	3779											
ACTL6A	86	hgsc.bcm.edu	37	3	179287948	179287948	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr3:179287948C>T	ENST00000429709.2	+	3	409	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	ACTL6A_ENST00000450518.2_Missense_Mutation_p.P24S|ACTL6A_ENST00000392662.1_Missense_Mutation_p.P24S	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	66					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.P66S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACAAGGCGGTCCCACCTACTA	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											193	177	182					3																	179287948		2203	4300	6503	180770642	SO:0001583	missense	86			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.196C>T	3.37:g.179287948C>T	ENSP00000397552:p.Pro66Ser		180770642	B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024921	0.54683	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662;ENST00000490364	D;D;D	0.97089	-4.24;-4.19;-4.19	5.7	5.7	0.88788	.	0.051642	0.85682	D	0.000000	D	0.93314	0.7869	N	0.05330	-0.07	0.48236	D	0.999612	B	0.21225	0.053	B	0.28465	0.09	D	0.88981	0.3408	10	0.51188	T	0.08	.	19.8407	0.96681	0.0:1.0:0.0:0.0	.	66	O96019	ACL6A_HUMAN	S	66;24;24;24	ENSP00000397552:P66S;ENSP00000394014:P24S;ENSP00000376430:P24S	ENSP00000376430:P24S	P	+	1	0	ACTL6A	180770642	0.995000	0.38212	0.985000	0.45067	0.977000	0.68977	3.812000	0.55628	2.677000	0.91161	0.650000	0.86243	CCC		0.443	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		T	179287948	C	T	179287948	3	4	75	1	0	0	0	0	1	0	0	0	198	855	30	2	206	2	ACTL6A	3	179287948	Missense_Mutation	SNP	C	TCGA-13-0727-01A-01W-0370-10	134795522	179287948	18734482	7	3780											
PDE6B	5158	hgsc.bcm.edu	37	4	650768	650770	+	In_Frame_Del	DEL	AAA	AAA	-	rs371134814		TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	AAA	AAA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr4:650768_650770delAAA	ENST00000496514.1	+	9	1234_1236	c.1213_1215delAAA	c.(1213-1215)aaadel	p.K405del	RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000255622.6_In_Frame_Del_p.K405del|PDE6B_ENST00000429163.2_In_Frame_Del_p.K126del|RP11-1191J2.2_ENST00000468356.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	405	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.K405delK(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TTACAACAGGAAAGACGGGAAGC	0.591																																					GBM(71;463 1194 9848 25922 46834)											1	Deletion - In frame(1)	ovary(1)	4																																								640770	SO:0001651	inframe_deletion	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1213_1215delAAA	4.37:g.650768_650770delAAA	ENSP00000420295:p.Lys405del		640768	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	In_Frame_Del	DEL	ENST00000496514.1	37	CCDS33932.1																																																																																				0.591	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		-	650770	AAA	-	650768	7	5	75	1	0	1	0	1	0	0	0	0	11646	247	9	0	1247	0	PDE6B	4	650768	In_Frame_Del	DEL	AAA	TCGA-13-0727-01A-01W-0370-10		650768	190503508	8	3781											
UGT2A2	10941	hgsc.bcm.edu	37	4	70505199	70505199	+	Intron	SNP	G	G	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr4:70505199G>A	ENST00000503640.1	-	1	771				UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.Q255*|UGT2A2_ENST00000457664.2_Nonsense_Mutation_p.Q54*|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGATTTCTTTGAATCAACTCT	0.368																																																0			4											117	116	117					4																	70505199		1844	4088	5932	70539788	SO:0001627	intron_variant	574537			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7448C>T	4.37:g.70505199G>A			70539788	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Nonsense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	36	5.713347	0.96830	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	.	.	.	5.85	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	12.8669	0.57944	0.0:0.0:0.7034:0.2966	.	.	.	.	X	54;255	.	ENSP00000387888:Q54X	Q	-	1	0	UGT2A1	70539788	0.000000	0.05858	0.911000	0.35937	0.981000	0.71138	0.093000	0.15086	0.738000	0.32606	0.585000	0.79938	CAA		0.368	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		A	70505199	G	A	70505199	1	1	75	0	1	0	0	0	0	0	0	0	16954	1299	45	2		2	UGT2A2	4	70505199	Intron	SNP	G	TCGA-13-0727-01A-01W-0370-10	69854431	70505199	120649077	9	3782											
SLU7	10569	hgsc.bcm.edu	37	5	159841380	159841380	+	Silent	SNP	T	T	C			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr5:159841380T>C	ENST00000297151.4	-	3	657	c.270A>G	c.(268-270)gaA>gaG	p.E90E		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	90					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)	p.E90E(1)		endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTTGTTTTTCTGGTTGTG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	5											297	288	291					5																	159841380		2203	4300	6503	159773958	SO:0001819	synonymous_variant	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.270A>G	5.37:g.159841380T>C			159773958	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Silent	SNP	ENST00000297151.4	37	CCDS4352.1																																																																																				0.398	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		C	159841380	T	C	159841380	2	2	75	1	0	0	0	0	0	0	0	1	14758	1838	64	4		4	SLU7	5	159841380	Silent	SNP	T	TCGA-13-0727-01A-01W-0370-10		159841380	21073880	10	3783											
BRD2	6046	hgsc.bcm.edu	37	6	32943814	32943814	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr6:32943814G>A	ENST00000374825.4	+	5	2179	c.478G>A	c.(478-480)Gat>Aat	p.D160N	BRD2_ENST00000443797.2_Missense_Mutation_p.D40N|BRD2_ENST00000395289.2_Missense_Mutation_p.D160N|BRD2_ENST00000449085.2_Missense_Mutation_p.D113N|BRD2_ENST00000395287.1_Missense_Mutation_p.D160N|BRD2_ENST00000374831.4_Missense_Mutation_p.D160N	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	160	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.D160N(1)		central_nervous_system(3)|stomach(2)	5						ATAGCCCACTGATGATATTGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	6											85	87	86					6																	32943814		1510	2708	4218	33051792	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.478G>A	6.37:g.32943814G>A	ENSP00000363958:p.Asp160Asn		33051792	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911288	0.72983	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.56	5.56	0.83823	Bromodomain (5);	0.000000	0.50627	D	0.000119	T	0.33962	0.0881	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.01537	-1.1330	10	0.54805	T	0.06	-20.1243	17.3709	0.87377	0.0:0.0:1.0:0.0	.	160;160	A2AAU0;P25440	.;BRD2_HUMAN	N	160;160;160;40;160;113	ENSP00000363958:D160N;ENSP00000363964:D160N;ENSP00000378704:D160N;ENSP00000413495:D40N;ENSP00000378702:D160N;ENSP00000409145:D113N	ENSP00000363958:D160N	D	+	1	0	BRD2	33051792	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	9.804000	0.99143	2.771000	0.95319	0.643000	0.83706	GAT		0.428	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			A	32943814	G	A	32943814	3	1	75	1	0	0	0	0	1	0	0	0	1502	1290	45	2	492	2	BRD2	6	32943814	Missense_Mutation	SNP	G	TCGA-13-0727-01A-01W-0370-10		32943814	138171253	11	3784											
TAF2	6873	hgsc.bcm.edu	37	8	120814095	120814095	+	Missense_Mutation	SNP	G	G	A	rs367888265		TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr8:120814095G>A	ENST00000378164.2	-	6	1029	c.731C>T	c.(730-732)gCg>gTg	p.A244V		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	244					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A244V(1)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GATATTTGACGCTGCTGTAGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	8						G	VAL/ALA	0,4406		0,0,2203	168	145	153		731	5.8	1	8		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAF2	NM_003184.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	244/1200	120814095	1,13005	2203	4300	6503	120883276	SO:0001583	missense	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.731C>T	8.37:g.120814095G>A	ENSP00000367406:p.Ala244Val		120883276	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113732	0.94339	0.0	1.16E-4	ENSG00000064313	ENST00000378164	T	0.05025	3.51	5.78	5.78	0.91487	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00092	-1.2083	10	0.54805	T	0.06	-8.241	19.9991	0.97403	0.0:0.0:1.0:0.0	.	244	Q6P1X5	TAF2_HUMAN	V	244	ENSP00000367406:A244V	ENSP00000367406:A244V	A	-	2	0	TAF2	120883276	1.000000	0.71417	0.954000	0.39281	0.703000	0.40648	9.814000	0.99346	2.724000	0.93272	0.655000	0.94253	GCG		0.433	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		A	120814095	G	A	120814095	3	1	75	1	0	0	0	0	1	0	0	0	15524	1087	38	1	2952	1	TAF2	8	120814095	Missense_Mutation	SNP	G	TCGA-13-0727-01A-01W-0370-10		120814095	25549927	12	3785											
GAPVD1	26130	hgsc.bcm.edu	37	9	128103502	128103502	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr9:128103502G>T	ENST00000495955.1	+	18	3214	c.2924G>T	c.(2923-2925)aGa>aTa	p.R975I	GAPVD1_ENST00000394104.2_Missense_Mutation_p.R975I|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R954I|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R949I|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R954I|GAPVD1_ENST00000470056.1_Missense_Mutation_p.R975I|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R975I|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R1002I			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	975					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1002I(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GACAGGAACAGACCTTGGTGG	0.373																																																1	Substitution - Missense(1)	ovary(1)	9											106	107	106					9																	128103502		2203	4300	6503	127143323	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2924G>T	9.37:g.128103502G>T	ENSP00000419063:p.Arg975Ile		127143323	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.57|18.57|18.57	3.652618|3.652618|3.652618	0.67472|0.67472|0.67472	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.|.	.|.|.	.|.|.	5.92|5.92|5.92	4.85|4.85|4.85	0.62838|0.62838|0.62838	.|.|.	.|.|0.121467	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.35537|0.35537|0.35537	0.0935|0.0935|0.0935	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|B;B;B;B;B;B	.|.|0.33857	.|.|0.226;0.145;0.226;0.226;0.226;0.429	.|.|B;B;B;B;B;B	.|.|0.34590	.|.|0.134;0.063;0.074;0.134;0.134;0.186	T|T|T	0.25012|0.25012|0.25012	-1.0144|-1.0144|-1.0144	5|5|9	.|.|0.54805	.|.|T	.|.|0.06	.|.|.	7.6578|7.6578|7.6578	0.28386|0.28386|0.28386	0.2062:0.0:0.7938:0.0|0.2062:0.0:0.7938:0.0|0.2062:0.0:0.7938:0.0	.|.|.	.|.|949;975;975;954;975;1002	.|.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.|.;GAPD1_HUMAN;.;.;.;.	Y|H|I	812|811|975;1002;975;949;954;975;975;975;954	.|.|.	.|.|ENSP00000265956:R949I	D|Q|R	+|+|+	1|3|2	0|2|0	GAPVD1|GAPVD1|GAPVD1	127143323|127143323|127143323	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	4.471000|4.471000|4.471000	0.60182|0.60182|0.60182	2.810000|2.810000|2.810000	0.96702|0.96702|0.96702	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAC|CAG|AGA		0.373	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			T	128103502	G	T	128103502	3	4	75	1	0	0	0	0	1	0	0	0	6239	942	33	3	3067	3	GAPVD1	9	128103502	Missense_Mutation	SNP	G	TCGA-13-0727-01A-01W-0370-10		128103502	13109929	13	3786											
LRSAM1	90678	hgsc.bcm.edu	37	9	130230081	130230081	+	Silent	SNP	T	T	G			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr9:130230081T>G	ENST00000323301.4	+	9	1195	c.591T>G	c.(589-591)acT>acG	p.T197T	LRSAM1_ENST00000300417.6_Silent_p.T197T|LRSAM1_ENST00000373322.1_Silent_p.T197T|LRSAM1_ENST00000373324.4_Silent_p.T197T	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	197					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T197T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GTGCCGGCACTGCGGCCATCT	0.622																																																2	Substitution - coding silent(2)	ovary(2)	9											67	51	56					9																	130230081		2203	4300	6503	129269902	SO:0001819	synonymous_variant	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.591T>G	9.37:g.130230081T>G			129269902	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	CCDS6873.1																																																																																				0.622	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		G	130230081	T	G	130230081	2	3	75	1	0	0	0	0	0	0	0	1	9043	1567	55	5		5	LRSAM1	9	130230081	Silent	SNP	T	TCGA-13-0727-01A-01W-0370-10	2126579	130230081	10983350	14	3787											
SHANK2	22941	hgsc.bcm.edu	37	11	70331795	70331795	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr11:70331795C>A	ENST00000423696.2	-	15	3502	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	SHANK2_ENST00000409161.1_Missense_Mutation_p.D939Y|SHANK2_ENST00000449833.2_Missense_Mutation_p.D940Y|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1536Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1156					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.D940Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGCCCATCTGCATAGACT	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											139	122	128					11																	70331795		2200	4294	6494	70009443	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3466G>T	11.37:g.70331795C>A	ENSP00000394536:p.Asp1156Tyr		70009443	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	C	19.25	3.791367	0.70452	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	5.42	5.42	0.78866	.	0.136685	0.64402	D	0.000004	T	0.52901	0.1763	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.58640	-0.7601	10	0.87932	D	0	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	1156;1535;940	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Y	940;939;814;1536;1156;1174;1159	ENSP00000399423:D940Y;ENSP00000386491:D939Y;ENSP00000402944:D814Y;ENSP00000345193:D1536Y;ENSP00000394536:D1156Y;ENSP00000294018:D1159Y	ENSP00000294018:D1159Y	D	-	1	0	SHANK2	70009443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.254000	0.78329	2.549000	0.85964	0.655000	0.94253	GAT		0.507	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		A	70331795	C	A	70331795	3	1	75	1	0	0	0	0	1	0	0	0	14268	913	32	3	954	3	SHANK2	11	70331795	Missense_Mutation	SNP	C	TCGA-13-0727-01A-01W-0370-10		70331795	64674721	15	3788											
NFRKB	4798	hgsc.bcm.edu	37	11	129746634	129746634	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr11:129746634C>T	ENST00000446488.3	-	16	1832	c.1729G>A	c.(1729-1731)Gtc>Atc	p.V577I	NFRKB_ENST00000304521.5_Missense_Mutation_p.V577I|NFRKB_ENST00000524794.1_Missense_Mutation_p.V602I|NFRKB_ENST00000524746.1_Missense_Mutation_p.V577I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	577					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)	p.V602I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGAATGGTGACGTAGGCAGGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	11											95	82	86					11																	129746634		2201	4297	6498	129251844	SO:0001583	missense	4798				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1729G>A	11.37:g.129746634C>T	ENSP00000400476:p.Val577Ile		129251844	Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460957	0.84317	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.83505	0.5269	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.979;0.979;0.991;0.991	D	0.83852	0.0263	9	0.87932	D	0	-28.9108	20.6439	0.99570	0.0:1.0:0.0:0.0	.	587;577;577;602	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	I	577;577;602;577;587	.	ENSP00000303800:V577I	V	-	1	0	NFRKB	129251844	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	GTC		0.567	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		T	129746634	C	T	129746634	3	4	75	1	0	0	0	0	1	0	0	0	10384	536	19	1	2214	1	NFRKB	11	129746634	Missense_Mutation	SNP	C	TCGA-13-0727-01A-01W-0370-10	59414839	129746634	5259882	16	3789											
NTM	50863	hgsc.bcm.edu	37	11	132016268	132016268	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr11:132016268G>A	ENST00000374786.1	+	2	739	c.260G>A	c.(259-261)cGc>cAc	p.R87H	NTM_ENST00000374791.3_Missense_Mutation_p.R87H|NTM_ENST00000374784.1_Missense_Mutation_p.R87H|NTM_ENST00000427481.2_Missense_Mutation_p.R78H|NTM_ENST00000425719.2_Missense_Mutation_p.R87H|NTM_ENST00000539799.1_Missense_Mutation_p.R87H	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	87	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R87H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CTGGATCCTCGCGTGGTCCTT	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											186	133	151					11																	132016268		2201	4297	6498	131521478	SO:0001583	missense	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.260G>A	11.37:g.132016268G>A	ENSP00000363918:p.Arg87His		131521478	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	36	5.756763	0.96898	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999;1.0	T	0.82669	-0.0343	10	0.87932	D	0	-11.5868	19.819	0.96583	0.0:0.0:1.0:0.0	.	87;78;87;87;87;87	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	H	87;87;78;78;87;87;87	ENSP00000363923:R87H;ENSP00000437668:R87H;ENSP00000448104:R78H;ENSP00000416320:R78H;ENSP00000363918:R87H;ENSP00000396722:R87H;ENSP00000363916:R87H	ENSP00000363916:R87H	R	+	2	0	NTM	131521478	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	9.852000	0.99516	2.691000	0.91804	0.655000	0.94253	CGC		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		A	132016268	G	A	132016268	3	1	75	1	0	0	0	0	1	0	0	0	10699	1087	38	1	352	1	NTM	11	132016268	Missense_Mutation	SNP	G	TCGA-13-0727-01A-01W-0370-10	2269634	132016268	2990248	17	3790											
HIP1R	9026	hgsc.bcm.edu	37	12	123340855	123340855	+	Silent	SNP	T	T	C			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr12:123340855T>C	ENST00000253083.4	+	15	1490	c.1365T>C	c.(1363-1365)agT>agC	p.S455S		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	455					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.S455S(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AAAAGCACAGTGAGCTCGTCC	0.657																																																1	Substitution - coding silent(1)	ovary(1)	12											112	104	106					12																	123340855		2203	4300	6503	121906808	SO:0001819	synonymous_variant	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1365T>C	12.37:g.123340855T>C			121906808	A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	CCDS31922.1																																																																																				0.657	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		C	123340855	T	C	123340855	2	2	75	1	0	0	0	0	0	0	0	1	7115	1693	59	4		4	HIP1R	12	123340855	Silent	SNP	T	TCGA-13-0727-01A-01W-0370-10		123340855	10511040	18	3791											
SIAH3	283514	hgsc.bcm.edu	37	13	46357913	46357913	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr13:46357913C>T	ENST00000400405.2	-	2	521	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	139					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A139T(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						ACGATCTCGGCTCCCTGGAGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	13											64	72	69					13																	46357913		2096	4211	6307	45255914	SO:0001583	missense	283514				CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.415G>A	13.37:g.46357913C>T	ENSP00000383256:p.Ala139Thr		45255914	B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759814	0.49468	.	.	ENSG00000215475	ENST00000400405	T	0.25250	1.81	5.19	3.44	0.39384	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.394859	0.24388	U	0.038959	T	0.14270	0.0345	L	0.28274	0.84	0.31557	N	0.658054	B	0.06786	0.001	B	0.11329	0.006	T	0.28902	-1.0029	10	0.07482	T	0.82	-9.7821	8.2284	0.31584	0.0:0.7539:0.0:0.2461	.	139	Q8IW03	SIAH3_HUMAN	T	139	ENSP00000383256:A139T	ENSP00000383256:A139T	A	-	1	0	SIAH3	45255914	0.999000	0.42202	0.305000	0.25099	0.955000	0.61496	4.030000	0.57260	0.572000	0.29383	0.561000	0.74099	GCC		0.622	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		T	46357913	C	T	46357913	3	4	75	1	0	0	0	0	1	0	0	0	14304	797	28	2	398	2	SIAH3	13	46357913	Missense_Mutation	SNP	C	TCGA-13-0727-01A-01W-0370-10		46357913	68811965	19	3792											
CDH24	64403	hgsc.bcm.edu	37	14	23519039	23519039	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr14:23519039G>T	ENST00000267383.5	-	9	1683	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000487137.2_Missense_Mutation_p.P493T|CDH24_ENST00000397359.3_Missense_Mutation_p.P531T|CDH24_ENST00000554034.1_Missense_Mutation_p.P493T			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.P493T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ACCTGGCCAGGAGCTGCAGAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	14											62	52	55					14																	23519039		2203	4300	6503	22588879	SO:0001583	missense	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1591C>A	14.37:g.23519039G>T	ENSP00000267383:p.Pro531Thr		22588879	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699757	0.48307	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.86	4.86	0.63082	Cadherin (2);Cadherin-like (1);	0.570237	0.16463	N	0.213323	T	0.23649	0.0572	L	0.45470	1.425	0.47862	D	0.999534	P;B	0.35011	0.48;0.397	B;B	0.34652	0.187;0.135	T	0.05716	-1.0868	10	0.56958	D	0.05	.	16.9005	0.86112	0.0:0.0:1.0:0.0	.	493;531	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	T	531;493;493;531	ENSP00000380517:P531T;ENSP00000434821:P493T;ENSP00000452493:P493T;ENSP00000267383:P531T	ENSP00000267383:P531T	P	-	1	0	CDH24	22588879	0.990000	0.36364	1.000000	0.80357	0.978000	0.69477	2.317000	0.43770	2.533000	0.85409	0.561000	0.74099	CCT		0.597	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		T	23519039	G	T	23519039	3	4	75	1	0	0	0	0	1	0	0	0	3109	1174	41	3	884	3	CDH24	14	23519039	Missense_Mutation	SNP	G	TCGA-13-0727-01A-01W-0370-10		23519039	83830501	20	3793											
TP53BP1	7158	hgsc.bcm.edu	37	15	43720335	43720335	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr15:43720335G>A	ENST00000263801.3	-	18	3944	c.3692C>T	c.(3691-3693)cCa>cTa	p.P1231L	TP53BP1_ENST00000450115.2_Missense_Mutation_p.P1236L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P1236L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P1236L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1231					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.P1231L(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATGGCCATGTGGAGGCTGAGG	0.433								Other conserved DNA damage response genes																																								1	Substitution - Missense(1)	ovary(1)	15											203	176	185					15																	43720335		2201	4298	6499	41507627	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3692C>T	15.37:g.43720335G>A	ENSP00000263801:p.Pro1231Leu		41507627	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925890	0.92319	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.09911	2.93;2.93;3.08;3.17	5.51	5.51	0.81932	.	0.159174	0.45126	D	0.000383	T	0.24275	0.0588	L	0.27053	0.805	0.58432	D	0.999999	D;P;P;P	0.89917	1.0;0.911;0.946;0.946	D;P;P;P	0.85130	0.997;0.532;0.723;0.723	T	0.01334	-1.1382	10	0.66056	D	0.02	-9.5829	19.7689	0.96353	0.0:0.0:1.0:0.0	.	1236;1231;1236;1236	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	L	1231;1236;1236;1236	ENSP00000263801:P1231L;ENSP00000371475:P1236L;ENSP00000371470:P1236L;ENSP00000393497:P1236L	ENSP00000263801:P1231L	P	-	2	0	TP53BP1	41507627	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.639000	0.61361	2.747000	0.94245	0.650000	0.86243	CCA		0.433	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			A	43720335	G	A	43720335	3	1	75	1	0	0	0	0	1	0	0	0	16383	1348	47	2	2270	2	TP53BP1	15	43720335	Missense_Mutation	SNP	G	TCGA-13-0727-01A-01W-0370-10		43720335	58811057	21	3794											
KIF2B	84643	hgsc.bcm.edu	37	17	51902304	51902304	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr17:51902304G>T	ENST00000268919.4	+	1	2066	c.1910G>T	c.(1909-1911)tGc>tTc	p.C637F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	637					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C637F(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTGATTTTTGCATTGCCCGG	0.448																																																1	Substitution - Missense(1)	ovary(1)	17											162	148	153					17																	51902304		2203	4300	6503	49257303	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1910G>T	17.37:g.51902304G>T	ENSP00000268919:p.Cys637Phe		49257303	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.601090	0.00849	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73047	-0.71	5.65	5.65	0.86999	.	0.162163	0.29995	N	0.010663	T	0.52386	0.1731	N	0.24115	0.695	0.32598	N	0.526239	B	0.12013	0.005	B	0.11329	0.006	T	0.53648	-0.8409	10	0.14656	T	0.56	.	9.1247	0.36807	0.1543:0.0:0.8457:0.0	.	637	Q8N4N8	KIF2B_HUMAN	F	637;525	ENSP00000268919:C637F	ENSP00000268919:C637F	C	+	2	0	KIF2B	49257303	0.936000	0.31750	0.996000	0.52242	0.009000	0.06853	2.012000	0.40932	2.824000	0.97209	0.655000	0.94253	TGC		0.448	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51902304	G	T	51902304	3	4	75	1	0	0	0	0	1	0	0	0	8298	1319	46	3	1912	3	KIF2B	17	51902304	Missense_Mutation	SNP	G	TCGA-13-0727-01A-01W-0370-10		51902304	29292906	22	3795											
DOCK6	57572	hgsc.bcm.edu	37	19	11353933	11353933	+	Splice_Site	SNP	C	C	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr19:11353933C>A	ENST00000294618.7	-	12	1398		c.e12+1			NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGGTAGGACACCTGCTTAAAG	0.667											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Unknown(1)	ovary(1)	19											27	33	31					19																	11353933		1984	4155	6139	11214933	SO:0001630	splice_region_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1386+1G>T	19.37:g.11353933C>A		671	11214933	A6H8X5|Q7Z7P4|Q9P2F2	Splice_Site	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144610	0.57044	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2295	0.73374	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK6	11214933	1.000000	0.71417	0.997000	0.53966	0.519000	0.34347	7.068000	0.76748	1.861000	0.53984	0.462000	0.41574	.		0.667	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812	Intron	A	11353933	C	A	11353933	5	1	75	1	0	0	0	0	0	0	1	0	4691	521	18	3	4904	3	DOCK6	19	11353933	Splice_Site	SNP	C	TCGA-13-0727-01A-01W-0370-10		11353933	47775050	23	3796											
ZNF99	7652	hgsc.bcm.edu	37	19	22942281	22942281	+	Missense_Mutation	SNP	T	T	C	rs564678369	byFrequency	TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr19:22942281T>C	ENST00000596209.1	-	4	520	c.430A>G	c.(430-432)Ata>Gta	p.I144V	ZNF99_ENST00000397104.3_Missense_Mutation_p.I165V	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I165V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACTGAAATATTTTTCCCTGG	0.284																																																1	Substitution - Missense(1)	ovary(1)	19											70	66	67					19																	22942281		1851	4100	5951	22734121	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.430A>G	19.37:g.22942281T>C	ENSP00000472969:p.Ile144Val		22734121	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.136	-1.107660	0.01813	.	.	ENSG00000213973	ENST00000397104	T	0.27557	1.66	1.65	1.65	0.23941	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25568	0.0622	M	0.62723	1.935	0.09310	N	1	B	0.21381	0.055	B	0.20577	0.03	T	0.27773	-1.0064	9	0.16896	T	0.51	.	5.2797	0.15668	0.0:0.0:0.0:1.0	.	165	A8MXY4	ZNF99_HUMAN	V	165	ENSP00000380293:I165V	ENSP00000380293:I165V	I	-	1	0	ZNF99	22734121	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.177000	0.09796	0.760000	0.33108	0.325000	0.21440	ATA		0.284	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		C	22942281	T	C	22942281	3	2	75	1	0	0	0	0	1	0	0	0	18204	1493	52	4	2635	4	ZNF99	19	22942281	Missense_Mutation	SNP	T	TCGA-13-0727-01A-01W-0370-10	11588348	22942281	36186702	24	3797											
ARHGAP35	2909	hgsc.bcm.edu	37	19	47424860	47424860	+	Silent	SNP	G	G	A	rs372055367		TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chr19:47424860G>A	ENST00000404338.3	+	1	2928	c.2928G>A	c.(2926-2928)ccG>ccA	p.P976P		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	976					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.P976P(1)									CAGGATCACCGCTCTGCAACT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	19						G		0,3866		0,0,1933	52	52	52		2928	-11.7	0	19		52	3,8261		0,3,4129	no	coding-synonymous	ARHGAP35	NM_004491.4		0,3,6062	AA,AG,GG		0.0363,0.0,0.0247		976/1500	47424860	3,12127	1933	4132	6065	52116700	SO:0001819	synonymous_variant	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2928G>A	19.37:g.47424860G>A			52116700	A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	CCDS46127.1																																																																																				0.483	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47424860	G	A	47424860	2	1	75	1	0	0	0	0	0	0	0	1	6795	1074	38	1		1	ARHGAP35	19	47424860	Silent	SNP	G	TCGA-13-0727-01A-01W-0370-10	24482579	47424860	11704123	25	3798											
ARSF	416	hgsc.bcm.edu	37	X	3019221	3019221	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chrX:3019221G>A	ENST00000381127.1	+	8	1282	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	ARSF_ENST00000359361.2_Missense_Mutation_p.R354Q|ARSF_ENST00000537104.1_Missense_Mutation_p.R354Q	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	354					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R354Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGCTAGGCGAGGGCATGCC	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											145	122	130					X																	3019221		2203	4299	6502	3029221	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1061G>A	X.37:g.3019221G>A	ENSP00000370519:p.Arg354Gln		3029221	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339043	0.11069	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93906	-3.31;-3.31;-3.31	2.81	-5.62	0.02481	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	2.429870	0.03186	U	0.172680	T	0.81418	0.4818	N	0.13235	0.315	0.09310	N	1	B	0.30326	0.276	B	0.20184	0.028	T	0.75357	-0.3346	10	0.13108	T	0.6	.	4.1265	0.10129	0.5358:0.0:0.2697:0.1945	.	354	P54793	ARSF_HUMAN	Q	354	ENSP00000370519:R354Q;ENSP00000445594:R354Q;ENSP00000352319:R354Q	ENSP00000352319:R354Q	R	+	2	0	ARSF	3029221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.794000	0.04584	-0.781000	0.04548	-0.369000	0.07265	CGA		0.438	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			A	3019221	G	A	3019221	3	1	75	1	0	0	0	0	1	0	0	0	991	1058	37	1	1087	1	ARSF	23	3019221	Missense_Mutation	SNP	G	TCGA-13-0727-01A-01W-0370-10		3019221	152251339	26	3799											
GRPR	2925	hgsc.bcm.edu	37	X	16168460	16168460	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chrX:16168460A>G	ENST00000380289.2	+	2	844	c.446A>G	c.(445-447)cAg>cGg	p.Q149R	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	149					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.Q149R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ATGGATATCCAGGCCTCTCAT	0.498																																																1	Substitution - Missense(1)	ovary(1)	X											86	85	85					X																	16168460		2203	4300	6503	16078381	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.446A>G	X.37:g.16168460A>G	ENSP00000369643:p.Gln149Arg		16078381	B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666976	0.67814	.	.	ENSG00000126010	ENST00000380289	T	0.71222	-0.55	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.188702	0.47852	D	0.000217	T	0.59348	0.2187	N	0.25060	0.705	0.53005	D	0.999964	P	0.38250	0.624	P	0.45232	0.474	T	0.57676	-0.7770	10	0.02654	T	1	-12.6899	13.2608	0.60104	1.0:0.0:0.0:0.0	.	149	P30550	GRPR_HUMAN	R	149	ENSP00000369643:Q149R	ENSP00000369643:Q149R	Q	+	2	0	GRPR	16078381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.985000	0.76193	1.724000	0.51502	0.486000	0.48141	CAG		0.498	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		G	16168460	A	G	16168460	3	3	75	1	0	0	0	0	1	0	0	0	6808	188	7	4	452	4	GRPR	23	16168460	Missense_Mutation	SNP	A	TCGA-13-0727-01A-01W-0370-10	13149239	16168460	139102100	27	3800											
ZNF41	7592	hgsc.bcm.edu	37	X	47307997	47307997	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0727-01A-01W-0370-10	TCGA-13-0727-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63f7db06-e129-4fb2-9662-4b24d6fafc05	eacf145c-329c-434b-aecc-66cbf42d248a	g.chrX:47307997C>A	ENST00000377065.4	-	5	1811	c.1172G>T	c.(1171-1173)gGc>gTc	p.G391V	ZNF41_ENST00000313116.7_Missense_Mutation_p.G391V|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.G401V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	433					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.G391V(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTGGGAGAAGCCTTTTCCACA	0.398																																																1	Substitution - Missense(1)	ovary(1)	X											76	69	72					X																	47307997		2203	4300	6503	47192941	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1172G>T	X.37:g.47307997C>A	ENSP00000366265:p.Gly391Val		47192941	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145488	0.37825	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.35789	1.29;1.29;1.29	3.57	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.216000	0.23583	N	0.046638	T	0.13756	0.0333	N	0.01505	-0.83	0.38763	D	0.954373	B;B;P;B;B	0.47910	0.386;0.386;0.902;0.386;0.44	B;B;B;B;B	0.40864	0.165;0.232;0.339;0.232;0.342	T	0.17899	-1.0354	10	0.49607	T	0.09	.	10.5207	0.44918	0.0:0.6296:0.3703:0.0	.	391;393;401;425;433	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	V	391;391;401	ENSP00000315173:G391V;ENSP00000366265:G391V;ENSP00000380243:G401V	ENSP00000315173:G391V	G	-	2	0	ZNF41	47192941	0.000000	0.05858	0.990000	0.47175	0.983000	0.72400	-0.314000	0.08092	0.315000	0.23110	-0.237000	0.12165	GGC		0.398	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		A	47307997	C	A	47307997	3	1	75	1	0	0	0	0	1	0	0	0	17889	739	26	3	1171	3	ZNF41	23	47307997	Missense_Mutation	SNP	C	TCGA-13-0727-01A-01W-0370-10	31139537	47307997	107962563	28	3801											
PUM1	9698	hgsc.bcm.edu	37	1	31468021	31468021	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr1:31468021T>C	ENST00000257075.5	-	6	860	c.767A>G	c.(766-768)aAg>aGg	p.K256R	PUM1_ENST00000373742.2_Missense_Mutation_p.K196R|PUM1_ENST00000426105.2_Missense_Mutation_p.K256R|PUM1_ENST00000440538.2_Missense_Mutation_p.K256R|PUM1_ENST00000373747.3_Missense_Mutation_p.K256R|PUM1_ENST00000373741.4_Missense_Mutation_p.K292R|PUM1_ENST00000423018.2_Missense_Mutation_p.K160R|PUM1_ENST00000424085.2_Intron	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	256					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.K256R(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACCCTTGTTCTTCTTTTCACC	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											412	382	392					1																	31468021		2203	4300	6503	31240608	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.767A>G	1.37:g.31468021T>C	ENSP00000257075:p.Lys256Arg		31240608	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671501	0.88348	.	.	ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T	0.23950	1.88;2.16;2.13;2.12;2.12;2.24;2.02	5.56	5.56	0.83823	.	0.086699	0.85682	D	0.000000	T	0.49949	0.1587	M	0.66939	2.045	0.54753	D	0.999986	P;P;D;P;D;P;D	0.76494	0.872;0.608;0.958;0.728;0.999;0.889;0.999	P;B;P;B;D;B;D	0.78314	0.485;0.074;0.577;0.156;0.991;0.438;0.991	T	0.50808	-0.8784	10	0.59425	D	0.04	-9.5254	15.7079	0.77598	0.0:0.0:0.0:1.0	.	196;160;292;256;256;256;256	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4	.;.;.;.;PUM1_HUMAN;.;.	R	256;256;256;256;292;160;196;256	ENSP00000257075:K256R;ENSP00000362852:K256R;ENSP00000391723:K256R;ENSP00000401777:K256R;ENSP00000362846:K292R;ENSP00000399440:K160R;ENSP00000362847:K196R	ENSP00000257075:K256R	K	-	2	0	PUM1	31240608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.898000	0.63238	2.108000	0.64289	0.459000	0.35465	AAG		0.423	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			C	31468021	T	C	31468021	3	2	76	1	0	0	0	0	1	0	0	0	12828	1609	56	4	2867	4	PUM1	1	31468021	Missense_Mutation	SNP	T	TCGA-13-0730-01A-01W-0370-10		31468021	217782600	1	3802											
TYW3	127253	hgsc.bcm.edu	37	1	75204423	75204423	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr1:75204423C>G	ENST00000370867.3	+	3	394	c.305C>G	c.(304-306)cCa>cGa	p.P102R	TYW3_ENST00000457880.2_Intron|TYW3_ENST00000421739.2_Intron|TYW3_ENST00000479111.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	102					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.P102R(1)|p.P102L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AAATTTGAACCATTTGTTCTT	0.363																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											152	144	147					1																	75204423		2203	4300	6503	74977011	SO:0001583	missense	127253			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"chromosome 1 open reading frame 171"	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.305C>G	1.37:g.75204423C>G	ENSP00000359904:p.Pro102Arg		74977011	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	CCDS666.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398726	0.62177	.	.	ENSG00000162623	ENST00000370867	T	0.51574	0.7	6.16	6.16	0.99307	tRNA wybutosine-synthesizing protein (2);	0.044668	0.85682	D	0.000000	T	0.76227	0.3958	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81482	-0.0913	10	0.87932	D	0	-5.4888	19.6313	0.95704	0.0:1.0:0.0:0.0	.	102	Q6IPR3	TYW3_HUMAN	R	102	ENSP00000359904:P102R	ENSP00000359904:P102R	P	+	2	0	TYW3	74977011	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	6.541000	0.73865	2.937000	0.99478	0.650000	0.86243	CCA		0.363	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		G	75204423	C	G	75204423	3	3	76	1	0	0	0	0	1	0	0	0	16820	594	21	3	315	3	TYW3	1	75204423	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10	43736402	75204423	174046198	2	3803											
FAM5C	339479	hgsc.bcm.edu	37	1	190129882	190129882	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr1:190129882A>G	ENST00000367462.3	-	7	1331	c.1100T>C	c.(1099-1101)cTa>cCa	p.L367P	BRINP3_ENST00000534846.1_Missense_Mutation_p.L265P	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	367					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.L367P(1)									CTGCGCCTTTAGGAAAAGTTG	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											144	147	146					1																	190129882		2203	4300	6503	188396505	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1100T>C	1.37:g.190129882A>G	ENSP00000356432:p.Leu367Pro		188396505	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281173	0.23392	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18502	2.48;2.21	5.75	4.61	0.57282	.	0.333619	0.29126	N	0.013074	T	0.08044	0.0201	N	0.11255	0.115	0.49915	D	0.999831	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24083	-1.0170	10	0.30078	T	0.28	.	5.2473	0.15504	0.7598:0.0:0.0823:0.1578	.	265;367	B7Z260;Q76B58	.;FAM5C_HUMAN	P	367;265	ENSP00000356432:L367P;ENSP00000438022:L265P	ENSP00000356432:L367P	L	-	2	0	FAM5C	188396505	0.995000	0.38212	0.944000	0.38274	0.972000	0.66771	3.312000	0.51927	0.983000	0.38602	0.467000	0.42956	CTA		0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		G	190129882	A	G	190129882	3	3	76	1	0	0	0	0	1	0	0	0	5594	420	15	4	1208	4	FAM5C	1	190129882	Missense_Mutation	SNP	A	TCGA-13-0730-01A-01W-0370-10	114925459	190129882	59120739	3	3804											
GCKR	2646	hgsc.bcm.edu	37	2	27722272	27722272	+	Silent	SNP	C	C	T	rs189485742		TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr2:27722272C>T	ENST00000264717.2	+	7	567	c.504C>T	c.(502-504)gcC>gcT	p.A168A	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	168	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)	p.A168A(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGTGGCTGCCGGGAAGAAGA	0.498													C|||	1	0.000199681	0	0	5008	,	,		20425	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2						C		0,4406		0,0,2203	237	225	229		504	-4.7	1	2		229	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GCKR	NM_001486.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/626	27722272	1,13005	2203	4300	6503	27575776	SO:0001819	synonymous_variant	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.504C>T	2.37:g.27722272C>T			27575776	A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	CCDS1757.1																																																																																				0.498	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		T	27722272	C	T	27722272	2	4	76	1	0	0	0	0	0	0	0	1	6294	639	23	1		1	GCKR	2	27722272	Silent	SNP	C	TCGA-13-0730-01A-01W-0370-10		27722272	215477101	4	3805											
ALK	238	hgsc.bcm.edu	37	2	29416770	29416770	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr2:29416770T>A	ENST00000389048.3	-	29	5089	c.4183A>T	c.(4183-4185)Acc>Tcc	p.T1395S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1395					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T1395S(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGCAAAGCGGTGTTGATTACA	0.463			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	1	Substitution - Missense(1)	ovary(1)	2											37	41	39					2																	29416770		2200	4296	6496	29270274	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4183A>T	2.37:g.29416770T>A	ENSP00000373700:p.Thr1395Ser		29270274	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	t	11.97	1.798300	0.31777	.	.	ENSG00000171094	ENST00000389048	T	0.77877	-1.13	5.37	5.37	0.77165	.	0.000000	0.49305	U	0.000149	T	0.68118	0.2966	L	0.34521	1.04	0.80722	D	1	B	0.16396	0.017	B	0.16289	0.015	T	0.62918	-0.6752	9	.	.	.	.	15.3981	0.74812	0.0:0.0:0.0:1.0	.	1395	Q9UM73	ALK_HUMAN	S	1395	ENSP00000373700:T1395S	.	T	-	1	0	ALK	29270274	1.000000	0.71417	0.985000	0.45067	0.294000	0.27393	4.840000	0.62817	2.043000	0.60533	0.454000	0.30748	ACC		0.463	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		A	29416770	T	A	29416770	3	1	76	1	0	0	0	0	1	0	0	0	525	1696	59	5	683	5	ALK	2	29416770	Missense_Mutation	SNP	T	TCGA-13-0730-01A-01W-0370-10	1694498	29416770	213782603	5	3806											
NRXN1	9378	hgsc.bcm.edu	37	2	50850722	50850722	+	Silent	SNP	T	T	A	rs373654735		TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr2:50850722T>A	ENST00000406316.2	-	6	2340	c.864A>T	c.(862-864)ggA>ggT	p.G288G	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.G321G|NRXN1_ENST00000406859.3_Silent_p.G288G|NRXN1_ENST00000402717.3_Silent_p.G288G|NRXN1_ENST00000401669.2_Silent_p.G288G|NRXN1_ENST00000405472.3_Silent_p.G288G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	288	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G288G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTATTCAGATCCTTTGAACG	0.373																																																1	Substitution - coding silent(1)	ovary(1)	2											102	96	98					2																	50850722		1877	4098	5975	50704226	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.864A>T	2.37:g.50850722T>A			50704226	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																				0.373	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50850722	T	A	50850722	2	1	76	1	0	0	0	0	0	0	0	1	10665	1422	50	5		5	NRXN1	2	50850722	Silent	SNP	T	TCGA-13-0730-01A-01W-0370-10	21433952	50850722	192348651	6	3807											
FAM119A	151194	hgsc.bcm.edu	37	2	208488953	208488953	+	Splice_Site	SNP	C	C	T			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr2:208488953C>T	ENST00000411432.1	-	2	363	c.147G>A	c.(145-147)gcG>gcA	p.A49A	METTL21A_ENST00000448823.2_Splice_Site_p.A49A|METTL21A_ENST00000272839.3_Splice_Site_p.A49A|METTL21A_ENST00000442521.1_Splice_Site_p.A49A|METTL21A_ENST00000406927.2_Splice_Site_p.A49A|METTL21A_ENST00000432416.1_Splice_Site_p.A49A|METTL21A_ENST00000425132.1_Splice_Site_p.A49A|METTL21A_ENST00000426075.1_Splice_Site_p.A49A|METTL21A_ENST00000458426.1_Splice_Site_p.A49A|METTL21A_ENST00000448007.2_Splice_Site_p.A49A	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	49					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.A49A(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GCTTACTTACCGCATCCCAAA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	2											66	68	68					2																	208488953		2203	4300	6503	208197198	SO:0001630	splice_region_variant	151194			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.147+1G>A	2.37:g.208488953C>T			208197198	Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	37	CCDS2376.1																																																																																				0.448	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280	Silent	T	208488953	C	T	208488953	5	4	76	1	0	0	0	0	0	0	1	0	5413	666	23	1	521	1	FAM119A	2	208488953	Splice_Site	SNP	C	TCGA-13-0730-01A-01W-0370-10	157638231	208488953	34710420	7	3808											
CHRND	1144	hgsc.bcm.edu	37	2	233393271	233393271	+	Missense_Mutation	SNP	C	C	A	rs150208750	byFrequency	TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr2:233393271C>A	ENST00000258385.3	+	5	446	c.414C>A	c.(412-414)ttC>ttA	p.F138L	CHRND_ENST00000457943.2_Nonsense_Mutation_p.S48*|CHRND_ENST00000536614.1_Missense_Mutation_p.F138L|CHRND_ENST00000543200.1_Missense_Mutation_p.F123L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	138					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.F138L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ACTACGGCTTCGTGTACTGGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											188	174	179					2																	233393271		2203	4300	6503	233101515	SO:0001583	missense	1144			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.414C>A	2.37:g.233393271C>A	ENSP00000258385:p.Phe138Leu		233101515	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	CCDS2494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.56|13.56	2.274001|2.274001	0.40194|0.40194	.|.	.|.	ENSG00000135902|ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614|ENST00000457943	T;T;T;T|.	0.78364|.	-1.17;-1.17;-1.17;-1.17|.	4.29|4.29	-7.77|-7.77	0.01227|0.01227	Neurotransmitter-gated ion-channel ligand-binding (3);|.	1.357730|.	0.04448|.	N|.	0.372131|.	T|.	0.09949|.	0.0244|.	N|N	0.01446|0.01446	-0.86|-0.86	0.80722|0.80722	A|A	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.42258|.	-0.9462|.	9|.	0.10377|0.07482	T|T	0.69|0.82	.|.	10.5423|10.5423	0.45039|0.45039	0.0:0.5674:0.1239:0.3087|0.0:0.5674:0.1239:0.3087	.|.	123;138|.	B4DT92;Q07001|.	.;ACHD_HUMAN|.	L|X	123;123;138;138|48	ENSP00000404950:F123L;ENSP00000438380:F123L;ENSP00000258385:F138L;ENSP00000437740:F138L|.	ENSP00000258385:F138L|ENSP00000391055:S48X	F|S	+|+	3|2	2|0	CHRND|CHRND	233101515|233101515	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.136000|0.136000	0.21042|0.21042	-6.173000|-6.173000	0.00077|0.00077	-1.503000|-1.503000	0.01812|0.01812	-1.267000|-1.267000	0.01435|0.01435	TTC|TCG		0.572	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			A	233393271	C	A	233393271	3	1	76	1	0	0	0	0	1	0	0	0	3394	883	31	3	432	3	CHRND	2	233393271	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10	24904318	233393271	9806102	8	3809											
SLC35A5	55032	hgsc.bcm.edu	37	3	112299826	112299826	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr3:112299826A>G	ENST00000492406.1	+	6	1145	c.862A>G	c.(862-864)Agt>Ggt	p.S288G	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	288					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)	p.S288G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCTTCAGAGGAGTAACCGTGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											85	86	85					3																	112299826		2203	4300	6503	113782516	SO:0001583	missense	55032			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.862A>G	3.37:g.112299826A>G	ENSP00000417654:p.Ser288Gly		113782516	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525813	0.27299	.	.	ENSG00000138459	ENST00000492406	T	0.46063	0.88	5.61	3.24	0.37175	.	0.396379	0.34110	N	0.004241	T	0.33731	0.0873	L	0.53249	1.67	0.26128	N	0.980459	B	0.06786	0.001	B	0.01281	0.0	T	0.17715	-1.0360	9	.	.	.	-3.1841	7.8237	0.29303	0.7138:0.0:0.2862:0.0	.	288	Q9BS91	S35A5_HUMAN	G	288	ENSP00000417654:S288G	.	S	+	1	0	SLC35A5	113782516	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.718000	0.54919	1.063000	0.40649	0.438000	0.28831	AGT		0.438	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		G	112299826	A	G	112299826	3	3	76	1	0	0	0	0	1	0	0	0	14577	304	11	4	880	4	SLC35A5	3	112299826	Missense_Mutation	SNP	A	TCGA-13-0730-01A-01W-0370-10		112299826	85722604	9	3810											
WDR1	9948	hgsc.bcm.edu	37	4	10117739	10117739	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr4:10117739C>T	ENST00000499869.2	-	2	329	c.136G>A	c.(136-138)Gac>Aac	p.D46N	WDR1_ENST00000382451.2_Missense_Mutation_p.D46N|WDR1_ENST00000502702.1_Missense_Mutation_p.D46N|RNA5SP155_ENST00000411154.1_RNA|WDR1_ENST00000382452.2_Missense_Mutation_p.D46N			O75083	WDR1_HUMAN	WD repeat domain 1	46					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.D46N(1)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GTACTCACGTCGATGTTCCTT	0.592																																																1	Substitution - Missense(1)	ovary(1)	4											50	62	58					4																	10117739		2001	4167	6168	9726837	SO:0001583	missense	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.136G>A	4.37:g.10117739C>T	ENSP00000427687:p.Asp46Asn		9726837	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826709	0.71143	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000443592;ENST00000502702;ENST00000508079	T;T;T;T;T	0.60424	0.41;0.41;0.19;0.19;0.48	5.03	4.18	0.49190	WD40 repeat-like-containing domain (1);	0.170659	0.51477	D	0.000091	T	0.42585	0.1209	L	0.35854	1.095	0.25036	N	0.991236	B;B	0.28233	0.204;0.017	B;B	0.19148	0.024;0.003	T	0.19224	-1.0312	10	0.18710	T	0.47	-29.9433	11.327	0.49454	0.0:0.9108:0.0:0.0892	.	46;46	O75083-3;O75083	.;WDR1_HUMAN	N	46;46;46;45;46;50	ENSP00000427687:D46N;ENSP00000371890:D46N;ENSP00000371889:D46N;ENSP00000426725:D46N;ENSP00000425481:D50N	ENSP00000371889:D46N	D	-	1	0	WDR1	9726837	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.375000	0.66173	1.115000	0.41800	0.561000	0.74099	GAC		0.592	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			T	10117739	C	T	10117739	3	4	76	1	0	0	0	0	1	0	0	0	17272	884	31	1	1740	1	WDR1	4	10117739	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10		10117739	181036537	10	3811											
KLHL5	51088	hgsc.bcm.edu	37	4	39114765	39114765	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr4:39114765C>T	ENST00000504108.1	+	9	2235	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	KLHL5_ENST00000359687.2_Missense_Mutation_p.T651M|KLHL5_ENST00000261425.3_Missense_Mutation_p.T605M|KLHL5_ENST00000508137.2_Missense_Mutation_p.T464M|KLHL5_ENST00000261426.5_Missense_Mutation_p.T590M|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000381930.3_Missense_Mutation_p.T651M	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	651						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T651M(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTAGGAGTGACGACCTGGAAT	0.478																																																1	Substitution - Missense(1)	ovary(1)	4											138	121	127					4																	39114765		2203	4300	6503	38791160	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1952C>T	4.37:g.39114765C>T	ENSP00000423897:p.Thr651Met		38791160	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407245	0.83230	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.67	5.67	0.87782	.	0.044704	0.85682	D	0.000000	D	0.88058	0.6335	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.67900	0.954;0.953;0.931	D	0.88739	0.3242	10	0.87932	D	0	.	19.7657	0.96340	0.0:1.0:0.0:0.0	.	590;651;651	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	M	685;605;464;651;651;651;590;245	ENSP00000261425:T605M;ENSP00000423080:T464M;ENSP00000423897:T651M;ENSP00000352716:T651M;ENSP00000371355:T651M;ENSP00000261426:T590M	ENSP00000261425:T605M	T	+	2	0	KLHL5	38791160	1.000000	0.71417	0.086000	0.20670	0.756000	0.42949	7.818000	0.86416	2.649000	0.89929	0.655000	0.94253	ACG		0.478	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			T	39114765	C	T	39114765	3	4	76	1	0	0	0	0	1	0	0	0	8392	536	19	1	1986	1	KLHL5	4	39114765	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10	28997026	39114765	152039511	11	3812											
NIPBL	25836	hgsc.bcm.edu	37	5	36976054	36976054	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr5:36976054A>G	ENST00000282516.8	+	9	1544	c.1045A>G	c.(1045-1047)Agt>Ggt	p.S349G	NIPBL_ENST00000448238.2_Missense_Mutation_p.S349G|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	349					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.S349C(1)|p.S349G(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGATATAATTAGTTCTCCATC	0.378																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	5											103	109	107					5																	36976054		2203	4300	6503	37011811	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1045A>G	5.37:g.36976054A>G	ENSP00000282516:p.Ser349Gly		37011811	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378500	0.61735	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95980	-3.85;-3.87	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.94450	0.8214	N	0.14661	0.345	0.50313	D	0.999865	P;D	0.56035	0.956;0.974	P;D	0.67725	0.899;0.953	D	0.93824	0.7121	10	0.28530	T	0.3	.	15.1301	0.72517	1.0:0.0:0.0:0.0	.	349;349	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	G	349	ENSP00000282516:S349G;ENSP00000406266:S349G	ENSP00000282516:S349G	S	+	1	0	NIPBL	37011811	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.959000	0.93110	1.980000	0.57719	0.383000	0.25322	AGT		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	36976054	A	G	36976054	3	3	76	1	0	0	0	0	1	0	0	0	10428	420	15	4	1075	4	NIPBL	5	36976054	Missense_Mutation	SNP	A	TCGA-13-0730-01A-01W-0370-10		36976054	143939206	12	3813											
TRIM36	55521	hgsc.bcm.edu	37	5	114482905	114482905	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr5:114482905G>A	ENST00000282369.3	-	3	606	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TRIM36_ENST00000513154.1_Missense_Mutation_p.P150L|TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Missense_Mutation_p.P7L	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	162					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P162L(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGAGGTGGTGGTTTACAAAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	5											169	164	166					5																	114482905		2202	4300	6502	114510804	SO:0001583	missense	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.485C>T	5.37:g.114482905G>A	ENSP00000282369:p.Pro162Leu		114510804	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090607	0.76756	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154;ENST00000508894	D;D;T;D	0.87029	-2.2;-2.2;-0.1;-2.2	5.39	4.5	0.54988	Zinc finger, RING/FYVE/PHD-type (1);	0.097397	0.64402	D	0.000001	D	0.88232	0.6381	L	0.27975	0.815	0.80722	D	1	D;D	0.62365	0.961;0.991	P;D	0.63703	0.617;0.917	D	0.88812	0.3292	10	0.51188	T	0.08	.	15.3577	0.74440	0.0:0.0:0.8592:0.1408	.	150;162	E9PFI8;Q9NQ86	.;TRI36_HUMAN	L	162;150;7;160	ENSP00000282369:P162L;ENSP00000423934:P150L;ENSP00000424259:P7L;ENSP00000424743:P160L	ENSP00000282369:P162L	P	-	2	0	TRIM36	114510804	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.338000	0.96553	1.229000	0.43630	-0.293000	0.09583	CCA		0.418	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		A	114482905	G	A	114482905	3	1	76	1	0	0	0	0	1	0	0	0	16510	1348	47	2	1733	2	TRIM36	5	114482905	Missense_Mutation	SNP	G	TCGA-13-0730-01A-01W-0370-10	77506851	114482905	66432355	13	3814											
MDN1	23195	hgsc.bcm.edu	37	6	90484419	90484419	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr6:90484419T>C	ENST00000369393.3	-	13	1970	c.1855A>G	c.(1855-1857)Att>Gtt	p.I619V	MDN1_ENST00000428876.1_Missense_Mutation_p.I619V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	619					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.I619V(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGATCACAATTTCTGGTTTA	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											137	127	130					6																	90484419		2203	4300	6503	90541140	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1855A>G	6.37:g.90484419T>C	ENSP00000358400:p.Ile619Val		90541140	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.705539	0.30232	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.16457	4.04;4.04;2.34	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);	0.062472	0.64402	D	0.000006	T	0.07954	0.0199	L	0.53249	1.67	0.41345	D	0.987327	B;B	0.28713	0.22;0.029	B;B	0.29942	0.109;0.013	T	0.09952	-1.0651	10	0.17832	T	0.49	.	11.617	0.51096	0.0:0.0:0.1486:0.8514	.	546;619	Q5T795;Q9NU22	.;MDN1_HUMAN	V	619;619;546	ENSP00000358400:I619V;ENSP00000413970:I619V;ENSP00000409664:I546V	ENSP00000358400:I619V	I	-	1	0	MDN1	90541140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.353000	0.52247	2.018000	0.59344	0.533000	0.62120	ATT		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90484419	T	C	90484419	3	2	76	1	0	0	0	0	1	0	0	0	9415	1493	52	4	15295	4	MDN1	6	90484419	Missense_Mutation	SNP	T	TCGA-13-0730-01A-01W-0370-10		90484419	80630648	14	3815											
HIBADH	11112	hgsc.bcm.edu	37	7	27689215	27689215	+	Silent	SNP	T	T	C			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr7:27689215T>C	ENST00000265395.2	-	2	335	c.129A>G	c.(127-129)ggA>ggG	p.G43G		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.G43G(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			GTCCAATGAATCCAACTGGAG	0.363																																																1	Substitution - coding silent(1)	ovary(1)	7											112	111	111					7																	27689215		2203	4300	6503	27655740	SO:0001819	synonymous_variant	11112			AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.129A>G	7.37:g.27689215T>C			27655740	Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	CCDS5414.1																																																																																				0.363	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		C	27689215	T	C	27689215	2	2	76	1	0	0	0	0	0	0	0	1	7099	1422	50	4		4	HIBADH	7	27689215	Silent	SNP	T	TCGA-13-0730-01A-01W-0370-10		27689215	131449448	15	3816											
ABCB1	5243	hgsc.bcm.edu	37	7	87144682	87144682	+	Silent	SNP	G	G	A	rs140661329		TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr7:87144682G>A	ENST00000265724.3	-	26	3564	c.3147C>T	c.(3145-3147)gaC>gaT	p.D1049D	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.D985D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1049	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.D1049D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCACTGGGATGTCCGGTCGGG	0.517																																																1	Substitution - coding silent(1)	ovary(1)	7						G		1,4405	2.1+/-5.4	0,1,2202	74	67	70		3147	2.1	0.9	7	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	ABCB1	NM_000927.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1049/1281	87144682	1,13005	2203	4300	6503	86982618	SO:0001819	synonymous_variant	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3147C>T	7.37:g.87144682G>A			86982618	A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	CCDS5608.1																																																																																				0.517	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87144682	G	A	87144682	2	1	76	1	0	0	0	0	0	0	0	1	40	1368	48	2		2	ABCB1	7	87144682	Silent	SNP	G	TCGA-13-0730-01A-01W-0370-10	59455467	87144682	71993981	16	3817											
PLXNA4	91584	hgsc.bcm.edu	37	7	131853209	131853209	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr7:131853209C>G	ENST00000359827.3	-	22	5102	c.4140G>C	c.(4138-4140)atG>atC	p.M1380I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.M1380I			Q9HCM2	PLXA4_HUMAN	plexin A4	1380					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.M1380I(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACGGTCGCGCATGGAGAAGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											88	88	88					7																	131853209		2203	4300	6503	131503749	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4140G>C	7.37:g.131853209C>G	ENSP00000352882:p.Met1380Ile		131503749	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566076	0.86439	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.10668	2.85;2.85	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.42245	1.32	0.80722	D	1	D	0.63880	0.993	D	0.64877	0.93	T	0.01030	-1.1475	10	0.21540	T	0.41	.	19.3569	0.94418	0.0:1.0:0.0:0.0	.	1380	Q9HCM2	PLXA4_HUMAN	I	1380	ENSP00000323194:M1380I;ENSP00000352882:M1380I	ENSP00000323194:M1380I	M	-	3	0	PLXNA4	131503749	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.582000	0.87167	0.462000	0.41574	ATG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		G	131853209	C	G	131853209	3	3	76	1	0	0	0	0	1	0	0	0	12122	710	25	3	1588	3	PLXNA4	7	131853209	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10	44708527	131853209	27285454	17	3818											
AGAP3	116988	hgsc.bcm.edu	37	7	150815313	150815313	+	Silent	SNP	G	G	A	rs374773519		TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr7:150815313G>A	ENST00000463381.1	+	6	535	c.39G>A	c.(37-39)gcG>gcA	p.A13A	AGAP3_ENST00000397238.2_Silent_p.A241A|AGAP3_ENST00000479901.1_Silent_p.A241A|AGAP3_ENST00000473312.1_Silent_p.A241A|AGAP3_ENST00000335367.3_Silent_p.A421A|AGAP3_ENST00000476375.1_3'UTR	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	205					cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.A241A(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCAGCGCTGCGAATCCCCGGG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	7						G	,	1,4237		0,1,2118	57	66	63		723,723	-5.8	0.9	7		63	0,8498		0,0,4249	no	coding-synonymous,coding-synonymous	AGAP3	NM_001042535.1,NM_031946.4	,	0,1,6367	AA,AG,GG		0.0,0.0236,0.0079	,	241/397,241/912	150815313	1,12735	2119	4249	6368	150446246	SO:0001819	synonymous_variant	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.39G>A	7.37:g.150815313G>A			150446246	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000463381.1	37		.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312404	0.05422	2.36E-4	0.0	ENSG00000133612	ENST00000469901	.	.	.	4.21	-5.84	0.02318	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41088	-0.9528	4	.	.	.	.	1.727	0.02924	0.398:0.2979:0.1583:0.1458	.	.	.	.	Q	177	.	.	R	+	2	0	AGAP3	150446246	0.000000	0.05858	0.863000	0.33907	0.002000	0.02628	-1.883000	0.01623	-0.790000	0.04492	-0.657000	0.03884	CGA		0.612	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		A	150815313	G	A	150815313	2	1	76	1	0	0	0	0	0	0	0	1	369	1045	37	1		1	AGAP3	7	150815313	Silent	SNP	G	TCGA-13-0730-01A-01W-0370-10	18962104	150815313	8323350	18	3819											
PSD3	23362	hgsc.bcm.edu	37	8	18729615	18729615	+	Silent	SNP	G	G	A			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr8:18729615G>A	ENST00000327040.8	-	3	861	c.759C>T	c.(757-759)ctC>ctT	p.L253L	PSD3_ENST00000440756.2_Silent_p.L253L|PSD3_ENST00000523619.1_Silent_p.L188L	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	253					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L253L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGAGCTCCCGAGGGAGGCCA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	8											41	42	42					8																	18729615		1937	4146	6083	18773895	SO:0001819	synonymous_variant	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.759C>T	8.37:g.18729615G>A			18773895	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	CCDS43720.1																																																																																				0.537	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		A	18729615	G	A	18729615	2	1	76	1	0	0	0	0	0	0	0	1	12651	1045	37	1		1	PSD3	8	18729615	Silent	SNP	G	TCGA-13-0730-01A-01W-0370-10		18729615	127634407	19	3820											
NDRG1	10397	hgsc.bcm.edu	37	8	134269065	134269065	+	Silent	SNP	G	G	A	rs183043224		TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr8:134269065G>A	ENST00000414097.2	-	8	1359	c.492C>T	c.(490-492)aaC>aaT	p.N164N	NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000537882.1_Silent_p.N83N|NDRG1_ENST00000323851.7_Silent_p.N164N|NDRG1_ENST00000522476.1_Silent_p.N98N|NDRG1_ENST00000354944.5_Silent_p.N94N	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	164					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.N164N(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AAGGGTTCACGTTGATAAGGA	0.562			T	ERG	prostate								G|||	1	0.000199681	0	0.0014	5008	,	,		19599	0		0	False		,,,				2504	0						Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	1	Substitution - coding silent(1)	ovary(1)	8											95	68	78					8																	134269065		2203	4300	6503	134338247	SO:0001819	synonymous_variant	10397			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.492C>T	8.37:g.134269065G>A			134338247	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Silent	SNP	ENST00000414097.2	37	CCDS34945.1																																																																																				0.562	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			A	134269065	G	A	134269065	2	1	76	1	0	0	0	0	0	0	0	1	10251	1136	40	1		1	NDRG1	8	134269065	Silent	SNP	G	TCGA-13-0730-01A-01W-0370-10	115539450	134269065	12094957	20	3821											
MYO3A	53904	hgsc.bcm.edu	37	10	26385320	26385320	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr10:26385320A>C	ENST00000265944.5	+	16	1739	c.1573A>C	c.(1573-1575)Aat>Cat	p.N525H	MYO3A_ENST00000543632.1_Missense_Mutation_p.N525H	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	525	Myosin motor.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N525H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGAGAAAAAAATTTTCATAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	10											30	33	32					10																	26385320		2194	4285	6479	26425326	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1573A>C	10.37:g.26385320A>C	ENSP00000265944:p.Asn525His		26425326	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228298	0.79576	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.89746	-1.09;-2.56	5.48	5.48	0.80851	Myosin head, motor domain (2);	0.042713	0.85682	D	0.000000	D	0.96605	0.8892	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.98093	1.0410	10	0.87932	D	0	.	15.8746	0.79151	1.0:0.0:0.0:0.0	.	525;525;525	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	H	525	ENSP00000265944:N525H;ENSP00000445909:N525H	ENSP00000265944:N525H	N	+	1	0	MYO3A	26425326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.205000	0.71048	0.533000	0.62120	AAT		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		C	26385320	A	C	26385320	3	2	76	1	0	0	0	0	1	0	0	0	10076	14	1	5	1627	5	MYO3A	10	26385320	Missense_Mutation	SNP	A	TCGA-13-0730-01A-01W-0370-10		26385320	109149427	21	3822											
RET	5979	hgsc.bcm.edu	37	10	43622100	43622100	+	Silent	SNP	G	G	A			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr10:43622100G>A	ENST00000355710.3	+	19	3349	c.3117G>A	c.(3115-3117)ccG>ccA	p.P1039P	RET_ENST00000340058.5_Silent_p.P1039P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1039			P -> L (in CCHS; with colonic aganglionosis; dbSNP:rs79853121). {ECO:0000269|PubMed:9497256}.|P -> Q.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P1039P(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGGAGACACCGCTGGTGGACT	0.522		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	1	Substitution - coding silent(1)	ovary(1)	10											133	128	130					10																	43622100		2203	4300	6503	42942106	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3117G>A	10.37:g.43622100G>A			42942106	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																				0.522	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		A	43622100	G	A	43622100	2	1	76	1	0	0	0	0	0	0	0	1	13238	1074	38	1		1	RET	10	43622100	Silent	SNP	G	TCGA-13-0730-01A-01W-0370-10	17236780	43622100	91912647	22	3823											
DKK1	22943	hgsc.bcm.edu	37	10	54074223	54074223	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr10:54074223C>A	ENST00000373970.3	+	1	168	c.29C>A	c.(28-30)aCc>aAc	p.T10N	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	10					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)	p.T10N(1)		kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GCGGGAGCTACCCGGGTCTTT	0.582											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	10											46	54	51					10																	54074223		2201	4295	6496	53744229	SO:0001583	missense	22943				CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"dickkopf (Xenopus laevis) homolog 1", "dickkopf 1 homolog (Xenopus laevis)"				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.29C>A	10.37:g.54074223C>A	ENSP00000363081:p.Thr10Asn	997	53744229	B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084330	0.20309	.	.	ENSG00000107984	ENST00000373970	T	0.42900	0.96	4.66	3.74	0.42951	.	1.162230	0.06579	N	0.749907	T	0.26195	0.0639	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.17433	0.018	T	0.21552	-1.0242	10	0.62326	D	0.03	-0.3862	8.2564	0.31758	0.0:0.8855:0.0:0.1145	.	10	O94907	DKK1_HUMAN	N	10	ENSP00000363081:T10N	ENSP00000363081:T10N	T	+	2	0	DKK1	53744229	0.193000	0.23313	0.001000	0.08648	0.296000	0.27459	2.415000	0.44635	1.055000	0.40461	0.561000	0.74099	ACC		0.582	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			A	54074223	C	A	54074223	3	1	76	1	0	0	0	0	1	0	0	0	4544	507	18	3	31	3	DKK1	10	54074223	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10	10452123	54074223	81460524	23	3824											
ARHGAP32	9743	hgsc.bcm.edu	37	11	128842912	128842912	+	Silent	SNP	C	C	A			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr11:128842912C>A	ENST00000310343.9	-	21	3446	c.3447G>T	c.(3445-3447)ggG>ggT	p.G1149G	ARHGAP32_ENST00000527272.1_Silent_p.G800G|ARHGAP32_ENST00000392657.3_Silent_p.G800G|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1149					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.G800G(1)|p.G1149G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTGGCTGATTCCCTGTTAAGT	0.458																																																2	Substitution - coding silent(2)	ovary(2)	11											236	219	225					11																	128842912		2201	4297	6498	128348122	SO:0001819	synonymous_variant	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3447G>T	11.37:g.128842912C>A			128348122	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1																																																																																				0.458	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		A	128842912	C	A	128842912	2	1	76	1	0	0	0	0	0	0	0	1	881	842	30	3		3	ARHGAP32	11	128842912	Silent	SNP	C	TCGA-13-0730-01A-01W-0370-10		128842912	6163604	24	3825											
VEZT	55591	hgsc.bcm.edu	37	12	95681516	95681516	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr12:95681516C>G	ENST00000436874.1	+	9	1510	c.1405C>G	c.(1405-1407)Ccc>Gcc	p.P469A	VEZT_ENST00000261219.6_Missense_Mutation_p.P421A|VEZT_ENST00000356859.4_3'UTR|RNU6-808P_ENST00000391233.1_RNA	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	469					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.P469A(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGAGGCTTATCCCATCCTAGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	12											60	53	55					12																	95681516		1862	4094	5956	94205647	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1405C>G	12.37:g.95681516C>G	ENSP00000410083:p.Pro469Ala		94205647	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790320	0.31685	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.13420	2.59;2.59;2.59	5.63	5.63	0.86233	.	0.327220	0.33772	N	0.004573	T	0.11537	0.0281	N	0.22421	0.69	0.40796	D	0.983293	B	0.12013	0.005	B	0.06405	0.002	T	0.19910	-1.0291	10	0.16896	T	0.51	-28.8702	19.6898	0.95996	0.0:1.0:0.0:0.0	.	469	Q9HBM0	VEZA_HUMAN	A	469;421;425;469	ENSP00000410083:P469A;ENSP00000261219:P421A;ENSP00000380894:P425A	ENSP00000261219:P421A	P	+	1	0	VEZT	94205647	1.000000	0.71417	0.989000	0.46669	0.345000	0.29048	7.101000	0.76997	2.669000	0.90835	0.655000	0.94253	CCC		0.393	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		G	95681516	C	G	95681516	3	3	76	1	0	0	0	0	1	0	0	0	17156	855	30	3	1439	3	VEZT	12	95681516	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10		95681516	38170379	25	3826											
SDSL	113675	hgsc.bcm.edu	37	12	113874568	113874568	+	Frame_Shift_Del	DEL	C	C	-	rs573188148	byFrequency	TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr12:113874568delC	ENST00000403593.4	+	7	946	c.684delC	c.(682-684)agcfs	p.S228fs	SDSL_ENST00000345635.4_Frame_Shift_Del_p.S228fs			Q96GA7	SDSL_HUMAN	serine dehydratase-like	228					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)	p.L229fs*30(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						TGGCCAAGAGCCTGGGTGCCA	0.652													CC|CC|C|deletion	10	0.00199681	0	0.0014	5008	,	,		17483	0		0.0089	False		,,,				2504	0															1	Deletion - Frameshift(1)	ovary(1)	12								12,4252		4,4,2124	59	47	51			0.6	0.8	12		51	78,8176		6,66,4055	no	frameshift	SDSL	NM_138432.2		10,70,6179	A1A1,A1R,RR		0.945,0.2814,0.719			113874568	90,12428	2203	4299	6502	112358951	SO:0001589	frameshift_variant	113675			AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.684delC	12.37:g.113874568delC	ENSP00000385790:p.Ser228fs		112358951		Frame_Shift_Del	DEL	ENST00000403593.4	37	CCDS9170.1																																																																																				0.652	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		-	113874568	C	-	113874568	7	5	76	1	0	1	0	1	0	0	0	0	13979	738	26	0	706	0	SDSL	12	113874568	Frame_Shift_Del	DEL	C	TCGA-13-0730-01A-01W-0370-10	18193052	113874568	19977327	26	3827											
PAN3	255967	hgsc.bcm.edu	37	13	28851443	28851443	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr13:28851443C>G	ENST00000380958.3	+	15	2271	c.2119C>G	c.(2119-2121)Cga>Gga	p.R707G	PAN3_ENST00000282391.5_Missense_Mutation_p.R395G|PAN3_ENST00000399613.1_Missense_Mutation_p.R507G	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.R507G(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGGAATTCAGCGAGAGAATTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	13											111	114	113					13																	28851443		2203	4300	6503	27749443	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2119C>G	13.37:g.28851443C>G	ENSP00000370345:p.Arg707Gly		27749443		Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498856	0.64298	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.14893	2.47;2.47;2.47	5.81	4.03	0.46877	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.02661	-1.1127	10	0.26408	T	0.33	-8.9786	14.4333	0.67266	0.4447:0.5552:0.0:0.0	.	707;395;653	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	G	707;507;395	ENSP00000370345:R707G;ENSP00000382522:R507G;ENSP00000282391:R395G	ENSP00000282391:R395G	R	+	1	2	PAN3	27749443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.264000	0.51553	0.749000	0.32854	0.655000	0.94253	CGA		0.343	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		G	28851443	C	G	28851443	3	3	76	1	0	0	0	0	1	0	0	0	11415	760	27	3	2177	3	PAN3	13	28851443	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10		28851443	86318435	27	3828											
NALCN	259232	hgsc.bcm.edu	37	13	101797213	101797213	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr13:101797213T>C	ENST00000251127.6	-	16	1955	c.1874A>G	c.(1873-1875)gAa>gGa	p.E625G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	625					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.E625G(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGGAGCTTTTCTTTGGTGTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	13											166	181	176					13																	101797213		2203	4300	6503	100595214	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1874A>G	13.37:g.101797213T>C	ENSP00000251127:p.Glu625Gly		100595214	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019699	0.93462	.	.	ENSG00000102452	ENST00000251127	D	0.97959	-4.63	5.75	5.75	0.90469	.	0.109014	0.64402	D	0.000003	D	0.97096	0.9051	L	0.39898	1.24	0.80722	D	1	D	0.55800	0.973	P	0.53518	0.728	D	0.97720	1.0196	10	0.66056	D	0.02	.	16.0519	0.80769	0.0:0.0:0.0:1.0	.	625	Q8IZF0	NALCN_HUMAN	G	625	ENSP00000251127:E625G	ENSP00000251127:E625G	E	-	2	0	NALCN	100595214	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.606000	0.82863	2.196000	0.70406	0.533000	0.62120	GAA		0.343	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		C	101797213	T	C	101797213	3	2	76	1	0	0	0	0	1	0	0	0	10148	1783	62	4	3458	4	NALCN	13	101797213	Missense_Mutation	SNP	T	TCGA-13-0730-01A-01W-0370-10	72945770	101797213	13372665	28	3829											
TFDP1	7027	hgsc.bcm.edu	37	13	114287470	114287470	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr13:114287470G>A	ENST00000375370.5	+	6	556	c.344G>A	c.(343-345)gGc>gAc	p.G115D	TFDP1_ENST00000538138.1_Missense_Mutation_p.G20D|TFDP1_ENST00000544902.1_Missense_Mutation_p.G20D|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	115					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G115D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AATGGCAAGGGCCTACGGCAT	0.522										TSP Lung(29;0.18)																																						1	Substitution - Missense(1)	ovary(1)	13											67	62	64					13																	114287470		2203	4300	6503	113335471	SO:0001583	missense	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.344G>A	13.37:g.114287470G>A	ENSP00000364519:p.Gly115Asp		113335471	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007402	0.75046	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902;ENST00000408980;ENST00000453989	T;T;T;T;D	0.86097	-0.14;0.64;0.06;0.46;-2.07	4.12	4.12	0.48240	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94387	0.8195	H	0.94771	3.58	0.80722	D	1	D;D;D;P;P	0.89917	1.0;1.0;1.0;0.813;0.66	D;D;D;B;B	0.97110	0.999;0.998;1.0;0.413;0.358	D	0.96242	0.9176	10	0.87932	D	0	.	16.3801	0.83458	0.0:0.0:1.0:0.0	.	20;20;115;115;115	F5H452;B4DLQ9;Q5JSB5;Q5JSB6;Q14186	.;.;.;.;TFDP1_HUMAN	D	20;115;20;115;115	ENSP00000443878:G20D;ENSP00000364519:G115D;ENSP00000438450:G20D;ENSP00000386145:G115D;ENSP00000401389:G115D	ENSP00000364519:G115D	G	+	2	0	TFDP1	113335471	1.000000	0.71417	0.955000	0.39395	0.979000	0.70002	9.252000	0.95491	1.844000	0.53588	0.491000	0.48974	GGC		0.522	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		A	114287470	G	A	114287470	3	1	76	1	0	0	0	0	1	0	0	0	15797	1203	42	2	362	2	TFDP1	13	114287470	Missense_Mutation	SNP	G	TCGA-13-0730-01A-01W-0370-10	12490257	114287470	882408	29	3830											
CHRM5	1133	hgsc.bcm.edu	37	15	34355342	34355342	+	Missense_Mutation	SNP	C	C	T	rs200634273		TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr15:34355342C>T	ENST00000383263.5	+	3	1094	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	CHRM5_ENST00000557872.1_Missense_Mutation_p.R142C	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	142					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R142C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCGGGCCAAGCGTACTCCGAA	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											100	94	96					15																	34355342		2201	4298	6499	32142634	SO:0001583	missense	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.424C>T	15.37:g.34355342C>T	ENSP00000372750:p.Arg142Cys		32142634	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.05	3.291012	0.59976	.	.	ENSG00000184984	ENST00000383263	T	0.39406	1.08	5.54	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.059053	0.64402	D	0.000006	T	0.65943	0.2740	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72054	-0.4406	10	0.87932	D	0	-7.9131	15.7624	0.78096	0.1372:0.8628:0.0:0.0	.	142	P08912	ACM5_HUMAN	C	142	ENSP00000372750:R142C	ENSP00000372750:R142C	R	+	1	0	CHRM5	32142634	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.032000	0.49736	1.523000	0.49018	0.650000	0.86243	CGT		0.527	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			T	34355342	C	T	34355342	3	4	76	1	0	0	0	0	1	0	0	0	3380	768	27	1	426	1	CHRM5	15	34355342	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10		34355342	68176050	30	3831											
HAGH	3029	hgsc.bcm.edu	37	16	1872925	1872925	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr16:1872925G>C	ENST00000397356.3	-	2	596	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	HAGH_ENST00000397353.2_Missense_Mutation_p.L16V|HAGH_ENST00000455446.2_Missense_Mutation_p.L64V|HAGH_ENST00000566709.1_Missense_Mutation_p.L16V	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	64					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)	p.L16V(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TCAATGACCAGGTACATGTAG	0.592																																					Pancreas(55;1048 1176 25227 40124 41333)											1	Substitution - Missense(1)	ovary(1)	16											165	133	144					16																	1872925		2199	4300	6499	1812926	SO:0001583	missense	3029			X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.190C>G	16.37:g.1872925G>C	ENSP00000380514:p.Leu64Val		1812926	A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868183	0.91587	.	.	ENSG00000063854	ENST00000455446;ENST00000397356;ENST00000397353	D;D;D	0.86627	-2.15;-2.15;-2.15	5.45	5.45	0.79879	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	M	0.62723	1.935	0.80722	D	1	D;D;P;P	0.60160	0.976;0.987;0.496;0.939	D;P;P;P	0.67231	0.95;0.821;0.608;0.882	D	0.92392	0.5922	10	0.62326	D	0.03	-7.3079	18.6291	0.91352	0.0:0.0:1.0:0.0	.	64;64;16;64	E7EN93;B4DT01;Q16775-2;Q16775	.;.;.;GLO2_HUMAN	V	64;64;16	ENSP00000406552:L64V;ENSP00000380514:L64V;ENSP00000380511:L16V	ENSP00000380511:L16V	L	-	1	2	HAGH	1812926	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.080000	0.76837	2.732000	0.93576	0.650000	0.86243	CTG		0.592	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		C	1872925	G	C	1872925	3	2	76	1	0	0	0	0	1	0	0	0	6945	991	35	3	768	3	HAGH	16	1872925	Missense_Mutation	SNP	G	TCGA-13-0730-01A-01W-0370-10		1872925	88481828	31	3832											
METT10D	79066	hgsc.bcm.edu	37	17	2376928	2376928	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr17:2376928A>T	ENST00000263092.6	-	4	486	c.359T>A	c.(358-360)cTt>cAt	p.L120H	METTL16_ENST00000538844.1_Intron|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	120							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.L120H(1)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GGTTGCTCCAAGTAAGGGGTA	0.383																																																1	Substitution - Missense(1)	ovary(1)	17											87	81	83					17																	2376928		1895	4114	6009	2323678	SO:0001583	missense	79066			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.359T>A	17.37:g.2376928A>T	ENSP00000263092:p.Leu120His		2323678	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515375	0.85389	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.17854	2.25	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61540	-0.7042	10	0.87932	D	0	-3.4358	14.051	0.64736	1.0:0.0:0.0:0.0	.	120;120	Q86W50-2;Q86W50	.;MET16_HUMAN	H	120	ENSP00000263092:L120H	ENSP00000263092:L120H	L	-	2	0	METTL16	2323678	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.948000	0.93006	2.210000	0.71456	0.482000	0.46254	CTT		0.383	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		T	2376928	A	T	2376928	3	4	76	1	0	0	0	0	1	0	0	0	9490	72	3	5	1357	5	METT10D	17	2376928	Missense_Mutation	SNP	A	TCGA-13-0730-01A-01W-0370-10		2376928	78818282	32	3833											
TP53	7157	hgsc.bcm.edu	37	17	7578398	7578398	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr17:7578398G>T	ENST00000269305.4	-	5	721	c.532C>A	c.(532-534)Cac>Aac	p.H178N	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H178N|TP53_ENST00000359597.4_Missense_Mutation_p.H178N|TP53_ENST00000455263.2_Missense_Mutation_p.H178N|TP53_ENST00000413465.2_Missense_Mutation_p.H178N|TP53_ENST00000420246.2_Missense_Mutation_p.H178N	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	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178fs*3(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E171fs*61(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)	CGCTCATGGTGGGGGCAGCGC	0.642		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"	98	Deletion - Frameshift(38)|Deletion - In frame(25)|Substitution - Missense(20)|Whole gene deletion(8)|Insertion - Frameshift(4)|Complex - deletion inframe(3)	large_intestine(22)|breast(12)|upper_aerodigestive_tract(10)|ovary(9)|haematopoietic_and_lymphoid_tissue(6)|endometrium(6)|skin(6)|bone(5)|central_nervous_system(4)|lung(4)|oesophagus(4)|stomach(3)|liver(2)|pancreas(2)|thyroid(1)|vulva(1)|urinary_tract(1)	17	GRCh37	CD983489	TP53	D	rs68130327						47	47	47					17																	7578398		2203	4300	6503	7519123	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.532C>A	17.37:g.7578398G>T	ENSP00000269305:p.His178Asn		7519123	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	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143403	0.37825	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99724	-6.54;-6.54;-6.54;-6.54;-6.54;-6.54;-6.54;-6.54	5.59	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050213	0.85682	D	0.000000	D	0.99130	0.9700	N	0.20357	0.565	0.48975	D	0.999736	D;D;B;P;D;D;D	0.89917	0.989;1.0;0.069;0.877;1.0;1.0;0.999	D;D;B;D;D;D;D	0.97110	0.972;1.0;0.108;0.932;1.0;1.0;0.999	D	0.98821	1.0747	10	0.22109	T	0.4	-32.3354	14.0625	0.64808	0.0:0.0:0.8482:0.1518	.	139;178;178;85;178;178;178	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	178;178;178;178;178;178;167;85;46;85;46	ENSP00000410739:H178N;ENSP00000352610:H178N;ENSP00000269305:H178N;ENSP00000398846:H178N;ENSP00000391127:H178N;ENSP00000391478:H178N;ENSP00000425104:H46N;ENSP00000423862:H85N	ENSP00000269305:H178N	H	-	1	0	TP53	7519123	0.992000	0.36948	1.000000	0.80357	0.884000	0.51177	1.389000	0.34453	1.497000	0.48584	0.655000	0.94253	CAC		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578398	G	T	7578398	3	4	76	1	0	0	0	0	1	0	0	0	16381	1348	47	3	766	3	TP53	17	7578398	Missense_Mutation	SNP	G	TCGA-13-0730-01A-01W-0370-10	5201470	7578398	73616812	33	3834											
SLC5A10	125206	hgsc.bcm.edu	37	17	18872373	18872374	+	In_Frame_Ins	INS	-	-	TAC			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr17:18872373_18872374insTAC	ENST00000395645.3	+	6	480_481	c.462_463insTAC	c.(463-465)tac>TACtac	p.155_155Y>YY	SLC5A10_ENST00000395643.2_In_Frame_Ins_p.155_155Y>YY|SLC5A10_ENST00000395642.1_In_Frame_Ins_p.99_99Y>YY|SLC5A10_ENST00000317977.6_In_Frame_Ins_p.99_99Y>YY|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_In_Frame_Ins_p.155_155Y>YY|SLC5A10_ENST00000417251.2_In_Frame_Ins_p.155_155Y>YY	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	155					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L154_Y155insY(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGCTGGACCTGTACGCGGGGGC	0.619																																																1	Insertion - In frame(1)	ovary(1)	17																																								18813099	SO:0001652	inframe_insertion	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.463_465dupTAC	17.37:g.18872374_18872376dupTAC	ENSP00000379007:p.Tyr155dup		18813098	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	In_Frame_Ins	INS	ENST00000395645.3	37	CCDS42275.1																																																																																				0.619	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		TAC	18872374	-	TAC	18872373	7	5	76	1	0	1	1	0	0	0	0	0	14665	1364	48	0	484	0	SLC5A10	17	18872373	In_Frame_Ins	INS	-	TCGA-13-0730-01A-01W-0370-10	11293975	18872373	62322837	34	3835											
BRCA1	672	hgsc.bcm.edu	37	17	41197784	41197784	+	Nonsense_Mutation	SNP	G	G	A	rs80359883|rs41293465|rs273902775|rs397509290|rs397509291|rs80359873		TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr17:41197784G>A	ENST00000357654.3	-	23	5621	c.5503C>T	c.(5503-5505)Cga>Tga	p.R1835*	BRCA1_ENST00000491747.2_Nonsense_Mutation_p.R731*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.R1570*|BRCA1_ENST00000591534.1_Nonsense_Mutation_p.R326*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.R1788*|BRCA1_ENST00000468300.1_3'UTR|BRCA1_ENST00000591849.1_Nonsense_Mutation_p.R68*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.R1596*|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.R1539*|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.R652*|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.R693*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.R1856*|BRCA1_ENST00000586385.1_Nonsense_Mutation_p.R145*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1835	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1835*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACCCACTCTCGGGTCACCACA	0.537			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Nonsense(1)	ovary(1)	17	GRCh37	CM960190	BRCA1	M	rs41293465						101	85	90					17																	41197784		2203	4300	6503	38451310	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5503C>T	17.37:g.41197784G>A	ENSP00000350283:p.Arg1835*		38451310	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	37	6.429124	0.97559	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	.	.	.	5.32	1.8	0.24995	.	0.158509	0.29624	N	0.011630	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4745	0.22028	0.099:0.0:0.6472:0.2537	rs41293465	.	.	.	X	1835;1856;1570;693;1596;652;1539;684;1857;1788;730	.	ENSP00000310938:R1539X	R	-	1	2	BRCA1	38451310	0.993000	0.37304	0.996000	0.52242	0.990000	0.78478	0.604000	0.24164	0.155000	0.19261	0.563000	0.77884	CGA		0.537	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41197784	G	A	41197784	4	1	76	1	0	0	0	0	0	1	0	0	1498	1124	39	1	92	1	BRCA1	17	41197784	Nonsense_Mutation	SNP	G	TCGA-13-0730-01A-01W-0370-10	22325411	41197784	39997426	35	3836											
SLC5A5	6528	hgsc.bcm.edu	37	19	17992859	17992859	+	Silent	SNP	C	C	T			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr19:17992859C>T	ENST00000222248.3	+	9	1496	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	383					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.L383L(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCAGGAAACTCGTGATTATCT	0.582																																					Melanoma(65;1008 1708 7910 46650)											1	Substitution - coding silent(1)	ovary(1)	19											95	87	90					19																	17992859		2203	4300	6503	17853859	SO:0001819	synonymous_variant	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1149C>T	19.37:g.17992859C>T			17853859	O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	CCDS12368.1																																																																																				0.582	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			T	17992859	C	T	17992859	2	4	76	1	0	0	0	0	0	0	0	1	14671	871	31	1		1	SLC5A5	19	17992859	Silent	SNP	C	TCGA-13-0730-01A-01W-0370-10		17992859	41136124	36	3837											
PRMT1	3276	hgsc.bcm.edu	37	19	50187291	50187291	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0730-01A-01W-0370-10	TCGA-13-0730-10B-01W-0370-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	33a01531-09dc-46ca-a238-8e5628fab56e	755fd271-4b83-4a5a-9e24-4ebf47113f4d	g.chr19:50187291C>T	ENST00000391851.4	+	5	595	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	PRMT1_ENST00000532489.1_Missense_Mutation_p.L128F|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000454376.2_Missense_Mutation_p.L174F	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	164	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.			DIIISEWMGYCLFYESMLNTVLYARDKWL -> ASSSASGW ATASSTSPCSTPCSMPGTSV (in Ref. 2; BAA11029). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.L150F(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CGAGTCCATGCTCAACACCGT	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											194	133	154					19																	50187291		2203	4300	6503	54879103	SO:0001583	missense	3276			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.466C>T	19.37:g.50187291C>T	ENSP00000375724:p.Leu156Phe		54879103	B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	ENST00000391851.4	37	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223167	0.79464	.	.	ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000526224	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000001	T	0.55305	0.1912	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.98;0.966;0.999	T	0.64824	-0.6316	10	0.87932	D	0	-0.1749	13.9608	0.64177	0.0:1.0:0.0:0.0	.	164;128;156;150	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	F	128;128;128;128;156;150;174;128	ENSP00000432349:L128F;ENSP00000433556:L128F;ENSP00000432538:L128F;ENSP00000431957:L128F;ENSP00000375724:L156F;ENSP00000406162:L174F;ENSP00000432788:L128F	ENSP00000375724:L156F	L	+	1	0	PRMT1	54879103	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.542000	0.60677	2.116000	0.64780	0.591000	0.81541	CTC		0.607	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		T	50187291	C	T	50187291	3	4	76	1	0	0	0	0	1	0	0	0	12538	797	28	2	542	2	PRMT1	19	50187291	Missense_Mutation	SNP	C	TCGA-13-0730-01A-01W-0370-10	32194432	50187291	8941692	37	3838											
SPEN	23013	broad.mit.edu	37	1	16261282	16261282	+	Silent	SNP	G	G	A			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;ManualReview;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr1:16261282G>A	ENST00000375759.3	+	11	8751	c.8547G>A	c.(8545-8547)caG>caA	p.Q2849Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2849	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.Q2849Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AATTTCAGCAGTCAGTGTCCA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	1											110	87	95					1																	16261282		2203	4300	6503	16133869	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8547G>A	1.37:g.16261282G>A			16133869	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		A	16261282	G	A	16261282	2	1	77	1	0	0	0	0	0	0	0	1	15040	1020	36	2		2	SPEN	1	16261282	Silent	SNP	G	TCGA-13-0751-01A-01D-0446-08		16261282	232989339	1	3839											
AIM2	9447	broad.mit.edu	37	1	159043085	159043085	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr1:159043085A>T	ENST00000368130.4	-	2	493	c.205T>A	c.(205-207)Ttt>Att	p.F69I	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	69	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.F69I(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AACTTCTGAAAAATACGAATG	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											83	85	84					1																	159043085		2203	4300	6503	157309709	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.205T>A	1.37:g.159043085A>T	ENSP00000357112:p.Phe69Ile		157309709	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428420	0.43122	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.54866	0.55;0.55	3.67	1.2	0.21068	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.30759	0.0775	L	0.59436	1.845	0.09310	N	1	P	0.47409	0.895	P	0.46885	0.53	T	0.12502	-1.0545	9	0.46703	T	0.11	-0.6782	3.6803	0.08308	0.6508:0.2257:0.1234:0.0	.	69	O14862	AIM2_HUMAN	I	69	ENSP00000357112:F69I;ENSP00000405197:F69I	ENSP00000357112:F69I	F	-	1	0	AIM2	157309709	0.001000	0.12720	0.001000	0.08648	0.125000	0.20455	0.140000	0.16056	0.111000	0.17947	0.459000	0.35465	TTT		0.448	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		T	159043085	A	T	159043085	3	4	77	1	0	0	0	0	1	0	0	0	432	14	1	5	846	5	AIM2	1	159043085	Missense_Mutation	SNP	A	TCGA-13-0751-01A-01D-0446-08	142781803	159043085	90207536	2	3840											
EXOC6B	23233	broad.mit.edu	37	2	72727056	72727056	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr2:72727056T>A	ENST00000272427.6	-	12	1343	c.1213A>T	c.(1213-1215)Att>Ttt	p.I405F	EXOC6B_ENST00000410104.1_Missense_Mutation_p.I405F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	405					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.I405F(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AAAAGCACAATGAGGTTCTTC	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											65	58	60					2																	72727056		1843	4044	5887	72580564	SO:0001583	missense	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1213A>T	2.37:g.72727056T>A	ENSP00000272427:p.Ile405Phe		72580564	B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.906088	0.92107	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.52983	0.64;0.64	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.88450	2.955	0.80722	D	1	P;D	0.63880	0.675;0.993	B;D	0.68192	0.309;0.956	T	0.77683	-0.2496	10	0.87932	D	0	.	12.9966	0.58650	0.0:0.0:0.0:1.0	.	405;405	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	F	405	ENSP00000272427:I405F;ENSP00000386698:I405F	ENSP00000272427:I405F	I	-	1	0	EXOC6B	72580564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.645000	0.83430	2.177000	0.69029	0.533000	0.62120	ATT		0.328	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		A	72727056	T	A	72727056	3	1	77	1	0	0	0	0	1	0	0	0	5309	1464	51	5	1266	5	EXOC6B	2	72727056	Missense_Mutation	SNP	T	TCGA-13-0751-01A-01D-0446-08		72727056	170472317	3	3841											
CNTNAP5	129684	broad.mit.edu	37	2	125262000	125262000	+	Silent	SNP	A	A	C			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr2:125262000A>C	ENST00000431078.1	+	8	1555	c.1191A>C	c.(1189-1191)acA>acC	p.T397T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	397	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T397T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGTTTCGAACATGGAACAAGG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	2											89	85	86					2																	125262000		1912	4135	6047	124978470	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1191A>C	2.37:g.125262000A>C			124978470	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			C	125262000	A	C	125262000	2	2	77	1	0	0	0	0	0	0	0	1	3650	204	8	5		5	CNTNAP5	2	125262000	Silent	SNP	A	TCGA-13-0751-01A-01D-0446-08	52534944	125262000	117937373	4	3842											
CHRNA1	1134	broad.mit.edu	37	2	175619076	175619076	+	Silent	SNP	C	C	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr2:175619076C>T	ENST00000261007.5	-	6	552	c.486G>A	c.(484-486)acG>acA	p.T162T	CHRNA1_ENST00000348749.5_Silent_p.T137T|CHRNA1_ENST00000409219.1_Silent_p.T137T|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409323.1_Silent_p.T137T	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	162					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.T162T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GAGGTGTCCACGTGATGTGGC	0.478																																																1	Substitution - coding silent(1)	ovary(1)	2											163	140	148					2																	175619076		2203	4300	6503	175327322	SO:0001819	synonymous_variant	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.486G>A	2.37:g.175619076C>T			175327322	B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	CCDS33331.1																																																																																				0.478	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			T	175619076	C	T	175619076	2	4	77	1	0	0	0	0	0	0	0	1	3381	523	19	1		1	CHRNA1	2	175619076	Silent	SNP	C	TCGA-13-0751-01A-01D-0446-08	50357076	175619076	67580297	5	3843											
CPO	130749	broad.mit.edu	37	2	207804354	207804354	+	Silent	SNP	T	T	C			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr2:207804354T>C	ENST00000272852.3	+	1	77	c.31T>C	c.(31-33)Ttg>Ctg	p.L11L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	11						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L11L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCTTTATCTTTTGGGGATGCT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	2											165	164	164					2																	207804354		2203	4300	6503	207512599	SO:0001819	synonymous_variant	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.31T>C	2.37:g.207804354T>C			207512599	Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	CCDS2372.1																																																																																				0.418	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		C	207804354	T	C	207804354	2	2	77	1	0	0	0	0	0	0	0	1	3820	1838	64	4		4	CPO	2	207804354	Silent	SNP	T	TCGA-13-0751-01A-01D-0446-08	32185278	207804354	35395019	6	3844											
PLCD4	84812	broad.mit.edu	37	2	219498451	219498451	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr2:219498451G>A	ENST00000450993.2	+	11	1912	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.E557K|PLCD4_ENST00000417849.1_Missense_Mutation_p.E525K	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	525	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E525K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATCTTTCTCTGAAACCAAGGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											75	69	71					2																	219498451		1904	4132	6036	219206695	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1573G>A	2.37:g.219498451G>A	ENSP00000388631:p.Glu525Lys		219206695	Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006357	0.93287	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.77750	-1.12;-1.12;-1.12	5.53	5.53	0.82687	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.92116	0.7501	H	0.96269	3.795	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	D	0.93903	0.7190	10	0.87932	D	0	.	19.2635	0.93977	0.0:0.0:1.0:0.0	.	525	Q9BRC7	PLCD4_HUMAN	K	525;525;525;557	ENSP00000388631:E525K;ENSP00000396942:E525K;ENSP00000396185:E557K	ENSP00000251959:E525K	E	+	1	0	PLCD4	219206695	1.000000	0.71417	0.988000	0.46212	0.577000	0.36160	9.445000	0.97587	2.882000	0.98803	0.655000	0.94253	GAA		0.512	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			A	219498451	G	A	219498451	3	1	77	1	0	0	0	0	1	0	0	0	12033	1291	45	2	1611	2	PLCD4	2	219498451	Missense_Mutation	SNP	G	TCGA-13-0751-01A-01D-0446-08	11694097	219498451	23700922	7	3845											
PAX3	5077	broad.mit.edu	37	2	223158470	223158470	+	Intron	SNP	G	G	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr2:223158470G>T	ENST00000350526.4	-	4	723				PAX3_ENST00000409551.3_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000258387.5_Missense_Mutation_p.A198D|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000409828.3_3'UTR|PAX3_ENST00000344493.4_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGACCAGGGCCTTTCCTGA	0.488			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0			2											103	113	110					2																	223158470		2203	4300	6503	222866714	SO:0001627	intron_variant	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.586+415C>A	2.37:g.223158470G>T			222866714	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	9.434	1.086366	0.20390	.	.	ENSG00000135903	ENST00000258387	D	0.99394	-5.82	3.71	0.806	0.18708	.	.	.	.	.	D	0.95156	0.8430	.	.	.	0.09310	N	1	B	0.34264	0.446	B	0.24974	0.057	D	0.92639	0.6123	8	0.11794	T	0.64	.	5.7922	0.18367	0.3683:0.0:0.6317:0.0	.	198	P23760-3	.	D	198	ENSP00000258387:A198D	ENSP00000258387:A198D	A	-	2	0	PAX3	222866714	0.001000	0.12720	0.001000	0.08648	0.042000	0.13812	0.211000	0.17474	0.141000	0.18875	0.650000	0.86243	GCC		0.488	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			T	223158470	G	T	223158470	1	4	77	0	1	0	0	0	0	0	0	0	11480	1203	42	3		3	PAX3	2	223158470	Intron	SNP	G	TCGA-13-0751-01A-01D-0446-08	3660019	223158470	20040903	8	3846											
HYAL2	8692	broad.mit.edu	37	3	50357666	50357666	+	Silent	SNP	C	C	G			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr3:50357666C>G	ENST00000447092.1	-	1	2547	c.255G>C	c.(253-255)ctG>ctC	p.L85L	TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000442581.1_Silent_p.L85L|HYAL2_ENST00000395139.3_Silent_p.L85L|HYAL2_ENST00000357750.4_Silent_p.L85L			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	85					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)	p.L85L(1)		breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGCGTGGATACAGGCCTAGAC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	3											77	68	71					3																	50357666		2203	4300	6503	50332670	SO:0001819	synonymous_variant	8692			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.255G>C	3.37:g.50357666C>G			50332670	B3KRZ2|O15177|Q9BW29	Silent	SNP	ENST00000447092.1	37	CCDS2818.1																																																																																				0.537	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		G	50357666	C	G	50357666	2	3	77	1	0	0	0	0	0	0	0	1	7464	465	17	3		3	HYAL2	3	50357666	Silent	SNP	C	TCGA-13-0751-01A-01D-0446-08		50357666	147664764	9	3847											
GPR149	344758	broad.mit.edu	37	3	154147152	154147152	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr3:154147152C>T	ENST00000389740.2	-	1	352	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	85					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V85M(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAGATGGTCACCGACAGGACG	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											93	97	96					3																	154147152		2056	4207	6263	155629846	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.253G>A	3.37:g.154147152C>T	ENSP00000374390:p.Val85Met		155629846		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923976	0.34002	.	.	ENSG00000174948	ENST00000389740	T	0.75050	-0.9	5.91	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.279237	0.35096	N	0.003446	T	0.64338	0.2589	L	0.34521	1.04	0.19775	N	0.99995	P	0.34462	0.454	B	0.31016	0.123	T	0.62732	-0.6792	10	0.51188	T	0.08	-8.6222	15.9597	0.79918	0.0:0.9256:0.0:0.0744	.	85	Q86SP6	GP149_HUMAN	M	85	ENSP00000374390:V85M	ENSP00000374390:V85M	V	-	1	0	GPR149	155629846	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.457000	0.60088	2.793000	0.96121	0.655000	0.94253	GTG		0.478	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		T	154147152	C	T	154147152	3	4	77	1	0	0	0	0	1	0	0	0	6654	507	18	2	1958	2	GPR149	3	154147152	Missense_Mutation	SNP	C	TCGA-13-0751-01A-01D-0446-08	103789486	154147152	43875278	10	3848											
LPP	4026	broad.mit.edu	37	3	188592229	188592229	+	Missense_Mutation	SNP	A	A	C	rs150544464	byFrequency	TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr3:188592229A>C	ENST00000312675.4	+	11	2047	c.1801A>C	c.(1801-1803)Atc>Ctc	p.I601L	LPP_ENST00000543006.1_Missense_Mutation_p.I601L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	601	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I601L(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTCTGCCCGCATCAGGGTGTT	0.512			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	1	Substitution - Missense(1)	ovary(1)	3											121	110	114					3																	188592229		2203	4300	6503	190074923	SO:0001583	missense	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1801A>C	3.37:g.188592229A>C	ENSP00000318089:p.Ile601Leu		190074923	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	A	35	5.482446	0.96307	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.59083	0.29;0.29	5.79	5.79	0.91817	Zinc finger, LIM-type (1);	0.044096	0.85682	D	0.000000	T	0.56140	0.1965	N	0.17474	0.49	0.80722	D	1	P;B	0.48016	0.904;0.053	P;B	0.58873	0.847;0.04	T	0.51252	-0.8729	10	0.12766	T	0.61	.	15.3154	0.74074	1.0:0.0:0.0:0.0	.	454;601	B7Z8W0;Q93052	.;LPP_HUMAN	L	601	ENSP00000318089:I601L;ENSP00000438891:I601L	ENSP00000318089:I601L	I	+	1	0	LPP	190074923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.209000	0.71365	0.533000	0.62120	ATC		0.512	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		C	188592229	A	C	188592229	3	2	77	1	0	0	0	0	1	0	0	0	8923	217	8	5	1835	5	LPP	3	188592229	Missense_Mutation	SNP	A	TCGA-13-0751-01A-01D-0446-08	34445077	188592229	9430201	11	3849											
ANKRD6	22881	broad.mit.edu	37	6	90276810	90276810	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr6:90276810A>T	ENST00000522441.1	+	2	756	c.115A>T	c.(115-117)Acc>Tcc	p.T39S	ANKRD6_ENST00000485637.1_Missense_Mutation_p.T39S|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.T39S|ANKRD6_ENST00000339746.4_Missense_Mutation_p.T39S|ANKRD6_ENST00000520793.1_Missense_Mutation_p.T39S|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000369408.5_Missense_Mutation_p.T39S	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	39					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T39S(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GGTAGCGGTTACCAAGGTAAC	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											39	39	39					6																	90276810		1920	4128	6048	90333529	SO:0001583	missense	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.115A>T	6.37:g.90276810A>T	ENSP00000430985:p.Thr39Ser		90333529	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930088	0.92389	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000520458;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000522779;ENST00000485637;ENST00000522705;ENST00000518150;ENST00000520793	T;T;T;T;T;T;T;T;T;T;T	0.70749	0.68;-0.51;-0.51;1.01;-0.28;1.01;-0.51;1.01;0.68;1.01;0.61	5.89	5.89	0.94794	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000034	T	0.65719	0.2718	L	0.31120	0.905	0.51233	D	0.999917	D;D;D;D	0.89917	0.992;1.0;0.999;1.0	D;D;D;D	0.91635	0.987;0.998;0.997;0.999	T	0.63773	-0.6561	10	0.09843	T	0.71	-23.2216	16.3158	0.82923	1.0:0.0:0.0:0.0	.	39;39;39;39	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	S	39	ENSP00000358416:T39S;ENSP00000345767:T39S;ENSP00000396771:T39S;ENSP00000431061:T39S;ENSP00000429431:T39S;ENSP00000428377:T39S;ENSP00000430985:T39S;ENSP00000429337:T39S;ENSP00000430954:T39S;ENSP00000428309:T39S;ENSP00000429782:T39S	ENSP00000345767:T39S	T	+	1	0	ANKRD6	90333529	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.870000	0.92336	2.254000	0.74563	0.533000	0.62120	ACC		0.502	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			T	90276810	A	T	90276810	3	4	77	1	0	0	0	0	1	0	0	0	685	391	14	5	117	5	ANKRD6	6	90276810	Missense_Mutation	SNP	A	TCGA-13-0751-01A-01D-0446-08		90276810	80838257	12	3850											
KIAA0776	23376	broad.mit.edu	37	6	96988491	96988491	+	Silent	SNP	T	T	C			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr6:96988491T>C	ENST00000369278.4	+	11	1305	c.1239T>C	c.(1237-1239)agT>agC	p.S413S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	413					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.S413S(1)									TTAGTACAAGTAAAAAGGATA	0.299																																																1	Substitution - coding silent(1)	ovary(1)	6											65	65	65					6																	96988491		2203	4295	6498	97095212	SO:0001819	synonymous_variant	23376			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1239T>C	6.37:g.96988491T>C			97095212	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	CCDS5034.1																																																																																				0.299	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		C	96988491	T	C	96988491	2	2	77	1	0	0	0	0	0	0	0	1	8193	1635	57	4		4	KIAA0776	6	96988491	Silent	SNP	T	TCGA-13-0751-01A-01D-0446-08	6711681	96988491	74126576	13	3851											
PDE7B	27115	broad.mit.edu	37	6	136475307	136475307	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr6:136475307G>T	ENST00000308191.6	+	7	876	c.573G>T	c.(571-573)gaG>gaT	p.E191D	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	191	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.E191D(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	ACCTGAAAGAGCCAAAGGTAA	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											105	80	88					6																	136475307		2203	4300	6503	136517000	SO:0001583	missense	27115			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.573G>T	6.37:g.136475307G>T	ENSP00000310661:p.Glu191Asp		136517000	Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	CCDS5175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.00|19.00	3.741047|3.741047	0.69304|0.69304	.|.	.|.	ENSG00000171408|ENSG00000171408	ENST00000446774|ENST00000308191;ENST00000367787	.|T	.|0.81415	.|-1.49	5.8|5.8	2.99|2.99	0.34606|0.34606	.|Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	.|0.051744	.|0.85682	.|D	.|0.000000	T|T	0.79082|0.79082	0.4386|0.4386	L|L	0.55834|0.55834	1.745|1.745	0.52501|0.52501	D|D	0.999951|0.999951	.|P;D	.|0.59767	.|0.951;0.986	.|P;D	.|0.63793	.|0.748;0.918	T|T	0.78409|0.78409	-0.2215|-0.2215	5|10	.|0.49607	.|T	.|0.09	.|.	10.1797|10.1797	0.42961|0.42961	0.286:0.0:0.714:0.0|0.286:0.0:0.714:0.0	.|.	.|243;191	.|A1E5M1;Q9NP56	.|.;PDE7B_HUMAN	S|D	86|191;327	.|ENSP00000310661:E191D	.|ENSP00000310661:E191D	A|E	+|+	1|3	0|2	PDE7B|PDE7B	136517000|136517000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	3.409000|3.409000	0.52657|0.52657	0.334000|0.334000	0.23590|0.23590	-0.136000|-0.136000	0.14681|0.14681	GCC|GAG		0.512	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			T	136475307	G	T	136475307	3	4	77	1	0	0	0	0	1	0	0	0	11652	962	34	3	599	3	PDE7B	6	136475307	Missense_Mutation	SNP	G	TCGA-13-0751-01A-01D-0446-08	39486816	136475307	34639760	14	3852											
C7orf63	79846	broad.mit.edu	37	7	89938625	89938625	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr7:89938625A>C	ENST00000389297.4	+	22	2850	c.2599A>C	c.(2599-2601)Aaa>Caa	p.K867Q	C7orf63_ENST00000316089.8_Missense_Mutation_p.K821Q|C7orf63_ENST00000497910.1_Missense_Mutation_p.K849Q	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		867								p.K821Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAGATACCATAAACGACCACA	0.289																																																1	Substitution - Missense(1)	ovary(1)	7											114	110	111					7																	89938625		1804	4064	5868	89776561	SO:0001583	missense	79846																														ENST00000389297.4:c.2599A>C	7.37:g.89938625A>C	ENSP00000373948:p.Lys867Gln		89776561	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.770|0.770	-0.766285|-0.766285	0.02974|0.02974	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577|ENST00000412839	T;T;T;T|.	0.23147|.	2.5;2.51;2.5;1.92|.	5.56|5.56	0.429|0.429	0.16506|0.16506	.|.	0.670270|.	0.13854|.	N|.	0.358184|.	T|.	0.20333|.	0.0489|.	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.22983|.	0.003;0.078|.	B;B|.	0.21360|.	0.012;0.034|.	T|.	0.23261|.	-1.0193|.	10|.	0.14656|.	T|.	0.56|.	-0.3202|-0.3202	2.6887|2.6887	0.05115|0.05115	0.3919:0.1071:0.3913:0.1097|0.3919:0.1071:0.3913:0.1097	.|.	849;867|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	Q|S	867;821;849;404|95	ENSP00000373948:K867Q;ENSP00000321753:K821Q;ENSP00000419549:K849Q;ENSP00000391571:K404Q|.	ENSP00000321753:K821Q|.	K|X	+|+	1|2	0|2	C7orf63|C7orf63	89776561|89776561	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.138000|-0.138000	0.10374|0.10374	-0.169000|-0.169000	0.10834|0.10834	-1.039000|-1.039000	0.02377|0.02377	AAA|TAA		0.289	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			C	89938625	A	C	89938625	3	2	77	1	0	0	0	0	1	0	0	0	2409	363	13	5	2685	5	C7orf63	7	89938625	Missense_Mutation	SNP	A	TCGA-13-0751-01A-01D-0446-08		89938625	69200038	15	3853											
FAM133B	257415	broad.mit.edu	37	7	92195341	92195341	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr7:92195341C>T	ENST00000445716.1	-	10	746	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	FAM133B_ENST00000438306.1_Missense_Mutation_p.R205Q|FAM133B_ENST00000427372.1_Missense_Mutation_p.R205Q	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	215	Lys-rich.						poly(A) RNA binding (GO:0044822)	p.R215Q(1)		endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGCTTTTTCTCGTTCTTCACT	0.323																																																1	Substitution - Missense(1)	ovary(1)	7											142	136	138					7																	92195341		1832	4082	5914	92033277	SO:0001583	missense	257415				CCDS47640.1, CCDS47641.1	7q21.2	2014-02-12	2007-04-26		ENSG00000234545	ENSG00000234545			28629	protein-coding gene	gene with protein product						12477932	Standard	NM_152789		Approved	MGC40405	uc003umc.3	Q5BKY9	OTTHUMG00000155863	ENST00000445716.1:c.644G>A	7.37:g.92195341C>T	ENSP00000398401:p.Arg215Gln		92033277	B2R994|Q05D67|Q6P5S6|Q8N0W8	Missense_Mutation	SNP	ENST00000445716.1	37	CCDS47640.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353867	0.41700	.	.	ENSG00000234545	ENST00000438306;ENST00000445716;ENST00000427372;ENST00000494079	T;T;T	0.45668	0.89;0.9;0.89	4.68	3.76	0.43208	.	.	.	.	.	T	0.26122	0.0637	L	0.27053	0.805	0.24473	N	0.994384	B	0.23490	0.086	B	0.08055	0.003	T	0.13124	-1.0521	9	0.26408	T	0.33	-1.8205	6.4406	0.21847	0.0:0.7673:0.0:0.2327	.	215	Q5BKY9	F133B_HUMAN	Q	205;215;205;112	ENSP00000389783:R205Q;ENSP00000398401:R215Q;ENSP00000402843:R205Q	ENSP00000402843:R205Q	R	-	2	0	FAM133B	92033277	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.862000	0.27899	1.227000	0.43598	0.563000	0.77884	CGA		0.323	FAM133B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342181.2	NM_001040057		T	92195341	C	T	92195341	3	4	77	1	0	0	0	0	1	0	0	0	5444	884	31	1	107	1	FAM133B	7	92195341	Missense_Mutation	SNP	C	TCGA-13-0751-01A-01D-0446-08	2256716	92195341	66943322	16	3854											
HEPACAM2	253012	broad.mit.edu	37	7	92825177	92825177	+	Silent	SNP	T	T	C			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr7:92825177T>C	ENST00000394468.2	-	8	1316	c.1239A>G	c.(1237-1239)gaA>gaG	p.E413E	HEPACAM2_ENST00000453812.2_Silent_p.E436E|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.N393S|HEPACAM2_ENST00000341723.4_Silent_p.E401E	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	413					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.E401E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGCAACAAATTCATATATTC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	7											118	116	116					7																	92825177		2203	4300	6503	92663113	SO:0001819	synonymous_variant	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1239A>G	7.37:g.92825177T>C			92663113	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.318807	0.41096	.	.	ENSG00000188175	ENST00000440868	T	0.57107	0.42	4.89	-0.224	0.13115	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.80722	D	1	B	0.14805	0.011	B	0.12837	0.008	T	0.09335	-1.0679	8	0.16420	T	0.52	-26.2025	9.4904	0.38955	0.0:0.4015:0.0:0.5985	.	393	C9JN07	.	S	393	ENSP00000389592:N393S	ENSP00000389592:N393S	N	-	2	0	HEPACAM2	92663113	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	0.722000	0.25925	-0.112000	0.11979	0.528000	0.53228	AAT		0.388	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		C	92825177	T	C	92825177	2	2	77	1	0	0	0	0	0	0	0	1	7053	1490	52	4		4	HEPACAM2	7	92825177	Silent	SNP	T	TCGA-13-0751-01A-01D-0446-08	629836	92825177	66313486	17	3855											
ASTN2	23245	broad.mit.edu	37	9	119249758	119249767	+	Frame_Shift_Del	DEL	TCAGCAAAAC	TCAGCAAAAC	-			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	TCAGCAAAAC	TCAGCAAAAC	-	-	TCAGCAAAAC	TCAGCAAAAC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr9:119249758_119249767delTCAGCAAAAC	ENST00000313400.4	-	20	3468_3477	c.3368_3377delGTTTTGCTGA	c.(3367-3378)agttttgctgatfs	p.SFAD1123fs	ASTN2_ENST00000361477.3_Frame_Shift_Del_p.SFAD175fs|ASTN2_ENST00000373996.3_Frame_Shift_Del_p.SFAD1119fs|ASTN2_ENST00000288520.5_Frame_Shift_Del_p.SFAD224fs|ASTN2_ENST00000341734.4_Frame_Shift_Del_p.SFAD175fs|ASTN2_ENST00000361209.2_Frame_Shift_Del_p.SFAD1072fs			O75129	ASTN2_HUMAN	astrotactin 2	1123	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.S1072fs*12(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAGTAAGTCATCAGCAAAACTCAGGAATTC	0.481																																																1	Deletion - Frameshift(1)	ovary(1)	9																																								118289588	SO:0001589	frameshift_variant	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3368_3377delGTTTTGCTGA	9.37:g.119249758_119249767delTCAGCAAAAC	ENSP00000314038:p.Ser1123fs		118289579	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Frame_Shift_Del	DEL	ENST00000313400.4	37																																																																																					0.481	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		-	119249767	TCAGCAAAAC	-	119249758	7	5	77	1	0	1	0	1	0	0	0	0	1065	1435	50	0	699	0	ASTN2	9	119249758	Frame_Shift_Del	DEL	TCAGCAAAAC	TCGA-13-0751-01A-01D-0446-08		119249758	21963673	18	3856											
AHNAK	79026	broad.mit.edu	37	11	62301009	62301009	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr11:62301009G>T	ENST00000378024.4	-	5	1154	c.880C>A	c.(880-882)Cca>Aca	p.P294T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	294					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P294T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCAGAGATGGGCCCTGTACC	0.527																																																1	Substitution - Missense(1)	ovary(1)	11											111	100	104					11																	62301009		2202	4299	6501	62057585	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.880C>A	11.37:g.62301009G>T	ENSP00000367263:p.Pro294Thr		62057585	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303318	0.23736	.	.	ENSG00000124942	ENST00000378024	T	0.02656	4.21	5.49	4.58	0.56647	.	0.000000	0.36665	U	0.002480	T	0.06781	0.0173	M	0.87097	2.86	0.24770	N	0.992872	P	0.49783	0.928	B	0.39840	0.311	T	0.25779	-1.0122	10	0.56958	D	0.05	-2.8195	11.5508	0.50719	0.0841:0.0:0.9159:0.0	.	294	Q09666	AHNK_HUMAN	T	294	ENSP00000367263:P294T	ENSP00000367263:P294T	P	-	1	0	AHNAK	62057585	0.001000	0.12720	0.969000	0.41365	0.784000	0.44337	-0.204000	0.09425	1.332000	0.45431	0.655000	0.94253	CCA		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62301009	G	T	62301009	3	4	77	1	0	0	0	0	1	0	0	0	414	1232	43	3	16912	3	AHNAK	11	62301009	Missense_Mutation	SNP	G	TCGA-13-0751-01A-01D-0446-08		62301009	72705507	19	3857											
C11orf52	91894	broad.mit.edu	37	11	111796415	111796415	+	Nonsense_Mutation	SNP	C	C	T	rs202170534		TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr11:111796415C>T	ENST00000278601.5	+	3	205	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	C11orf52_ENST00000527286.1_3'UTR|DIXDC1_ENST00000529225.1_5'Flank|CRYAB_ENST00000527950.1_5'Flank|RNA5SP351_ENST00000459480.1_RNA|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	37						extracellular vesicular exosome (GO:0070062)		p.Q37*(1)		lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		GCAGCCACAACAGCTGCAGCA	0.512																																																1	Substitution - Nonsense(1)	ovary(1)	11											74	82	79					11																	111796415		2201	4297	6498	111301625	SO:0001587	stop_gained	91894			AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.109C>T	11.37:g.111796415C>T	ENSP00000278601:p.Gln37*		111301625		Nonsense_Mutation	SNP	ENST00000278601.5	37	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512607	0.27123	.	.	ENSG00000149300	ENST00000529342;ENST00000278601	.	.	.	4.38	1.08	0.20341	.	0.574067	0.15833	N	0.242382	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.2206	6.4554	0.21926	0.3722:0.4467:0.1811:0.0	.	.	.	.	X	37	.	ENSP00000278601:Q37X	Q	+	1	0	C11orf52	111301625	0.728000	0.28080	0.108000	0.21378	0.186000	0.23388	1.389000	0.34453	0.543000	0.28864	0.561000	0.74099	CAG		0.512	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	NM_080659		T	111796415	C	T	111796415	4	4	77	1	0	0	0	0	0	1	0	0	1647	479	17	2	119	2	C11orf52	11	111796415	Nonsense_Mutation	SNP	C	TCGA-13-0751-01A-01D-0446-08	49495406	111796415	23210101	20	3858											
GLB1L3	112937	broad.mit.edu	37	11	134177017	134177017	+	Splice_Site	SNP	G	G	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr11:134177017G>T	ENST00000431683.2	+	10	876		c.e10-1			NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3						carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.?(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTTGTTTTTAGAGAGATAAGC	0.398																																																1	Unknown(1)	ovary(1)	11											137	120	126					11																	134177017		1846	4091	5937	133682227	SO:0001630	splice_region_variant	112937				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.877-1G>T	11.37:g.134177017G>T			133682227	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Splice_Site	SNP	ENST00000431683.2	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	6.643	0.487152	0.12641	.	.	ENSG00000166105	ENST00000431683	.	.	.	4.91	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4638	0.32944	0.103:0.0:0.897:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLB1L3	133682227	1.000000	0.71417	0.879000	0.34478	0.147000	0.21601	4.223000	0.58587	2.717000	0.92951	0.650000	0.86243	.		0.398	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416	Intron	T	134177017	G	T	134177017	5	4	77	1	0	0	0	0	0	0	1	0	6430	956	33	3	914	3	GLB1L3	11	134177017	Splice_Site	SNP	G	TCGA-13-0751-01A-01D-0446-08	22380602	134177017	829499	21	3859											
SACS	26278	broad.mit.edu	37	13	23911439	23911439	+	Silent	SNP	G	G	A	rs145327845	byFrequency	TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;ManualReview;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr13:23911439G>A	ENST00000382292.3	-	9	6849	c.6576C>T	c.(6574-6576)atC>atT	p.I2192I	SACS_ENST00000382298.3_Silent_p.I2192I|SACS_ENST00000402364.1_Silent_p.I1442I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2192					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.I2045I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTCTCATCGATAAGACTCA	0.368													A|||	4	0.000798722	0.0023	0	5008	,	,		21050	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	13						A		10,4396	822.0+/-416.4	0,10,2193	56	54	55		6576	2.3	1	13	dbSNP_134	55	0,8598		0,0,4299	no	coding-synonymous	SACS	NM_014363.4		0,10,6492	AA,AG,GG		0.0,0.227,0.0769		2192/4580	23911439	10,12994	2203	4299	6502	22809439	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6576C>T	13.37:g.23911439G>A			22809439	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		A	23911439	G	A	23911439	2	1	77	1	0	0	0	0	0	0	0	1	13807	1048	37	1		1	SACS	13	23911439	Silent	SNP	G	TCGA-13-0751-01A-01D-0446-08		23911439	91258439	22	3860											
TBC1D4	9882	broad.mit.edu	37	13	75869117	75869117	+	Silent	SNP	A	A	G			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr13:75869117A>G	ENST00000377636.3	-	18	3535	c.3189T>C	c.(3187-3189)caT>caC	p.H1063H	TBC1D4_ENST00000431480.2_Silent_p.H1055H|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000425511.1_Silent_p.H227H|TBC1D4_ENST00000377625.2_Silent_p.H1000H	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1063	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.H1063H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGTGATAGTCATGAAGGAGCC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	13											83	82	82					13																	75869117		1880	4129	6009	74767118	SO:0001819	synonymous_variant	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3189T>C	13.37:g.75869117A>G			74767118	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	CCDS41901.1																																																																																				0.388	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		G	75869117	A	G	75869117	2	3	77	1	0	0	0	0	0	0	0	1	15622	214	8	4		4	TBC1D4	13	75869117	Silent	SNP	A	TCGA-13-0751-01A-01D-0446-08	51957678	75869117	39300761	23	3861											
C14orf115	55237	broad.mit.edu	37	14	74825030	74825030	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Sequenom			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr14:74825030C>T	ENST00000256362.4	+	2	1785	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	515					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.A515V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGCAGGGCTGCCCGCAGGCAG	0.667																																																1	Substitution - Missense(1)	ovary(1)	14											60	65	63					14																	74825030		2202	4300	6502	73894783	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1544C>T	14.37:g.74825030C>T	ENSP00000256362:p.Ala515Val		73894783	Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534710	0.85812	.	.	ENSG00000133980	ENST00000256362	T	0.61158	0.13	4.29	3.4	0.38934	.	0.000000	0.64402	U	0.000001	T	0.45316	0.1336	L	0.32530	0.975	0.42125	D	0.991448	B	0.17038	0.02	B	0.15052	0.012	T	0.45249	-0.9274	10	0.87932	D	0	-8.7487	10.6671	0.45736	0.0:0.9101:0.0:0.0899	.	515	Q9H8Y1	VRTN_HUMAN	V	515	ENSP00000256362:A515V	ENSP00000256362:A515V	A	+	2	0	VRTN	73894783	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.491000	0.73649	1.012000	0.39366	0.491000	0.48974	GCC		0.667	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		T	74825030	C	T	74825030	3	4	77	1	0	0	0	0	1	0	0	0	1740	739	26	2	1546	2	C14orf115	14	74825030	Missense_Mutation	SNP	C	TCGA-13-0751-01A-01D-0446-08		74825030	32524510	24	3862											
GABRB3	2562	broad.mit.edu	37	15	26793203	26793203	+	Missense_Mutation	SNP	C	C	T	rs373823173		TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr15:26793203C>T	ENST00000311550.5	-	9	1270	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	GABRB3_ENST00000400188.3_Missense_Mutation_p.D316N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D387N|GABRB3_ENST00000541819.2_Missense_Mutation_p.D443N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D302N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	387					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.D387N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCCTGGTATCGCCAATGCCG	0.478																																																1	Substitution - Missense(1)	ovary(1)	15						C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	131	123	126		1159,904,946,1159	5.8	0.4	15		126	0,8600		0,0,4300	no	missense,missense,missense,missense	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	23,23,23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	387/474,302/389,316/403,387/474	26793203	1,13005	2203	4300	6503	24344296	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1159G>A	15.37:g.26793203C>T	ENSP00000308725:p.Asp387Asn		24344296	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273435	0.40194	2.27E-4	0.0	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.799927	0.11783	N	0.529932	D	0.87629	0.6225	M	0.69523	2.12	0.80722	D	1	P;B;B	0.49783	0.928;0.041;0.03	P;B;B	0.50109	0.631;0.017;0.027	D	0.84018	0.0352	10	0.28530	T	0.3	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	443;387;387	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	387;443;387;316;302	ENSP00000308725:D387N;ENSP00000442408:D443N;ENSP00000299267:D387N;ENSP00000383049:D316N;ENSP00000439169:D302N	ENSP00000299267:D387N	D	-	1	0	GABRB3	24344296	1.000000	0.71417	0.416000	0.26546	0.475000	0.33008	5.975000	0.70475	2.752000	0.94435	0.655000	0.94253	GAT		0.478	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			T	26793203	C	T	26793203	3	4	77	1	0	0	0	0	1	0	0	0	6168	884	31	1	266	1	GABRB3	15	26793203	Missense_Mutation	SNP	C	TCGA-13-0751-01A-01D-0446-08		26793203	75738189	25	3863											
PDPK1	5170	broad.mit.edu	37	16	2647124	2647124	+	Splice_Site	SNP	G	G	C			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr16:2647124G>C	ENST00000342085.4	+	13	1551	c.1402G>C	c.(1402-1404)Ggt>Cgt	p.G468R	PDPK1_ENST00000268673.7_Splice_Site_p.G341R|PDPK1_ENST00000441549.3_Intron|PDPK1_ENST00000389224.3_Splice_Site_p.G441R|PDPK1_ENST00000354836.5_Splice_Site_p.G444R|CTD-3126B10.1_ENST00000562166.1_RNA	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	468	PH.				actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)	p.G468R(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TTGGCGTCAGGGTTTATTTGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	16											74	70	71					16																	2647124		2198	4300	6498	2587125	SO:0001630	splice_region_variant	5170			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"PkB kinase"	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1402-1G>C	16.37:g.2647124G>C			2587125	H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	ENST00000342085.4	37	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	-	24.1	4.492701	0.84962	.	.	ENSG00000140992	ENST00000342085;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.01	5.01	0.66863	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.63541	-0.6614	9	.	.	.	-18.373	17.0462	0.86504	0.0:0.0:1.0:0.0	.	341;468	O15530-4;O15530	.;PDPK1_HUMAN	R	468;341;444;441	ENSP00000344220:G468R;ENSP00000268673:G341R;ENSP00000346895:G444R;ENSP00000373876:G441R	.	G	+	1	0	PDPK1	2587125	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.590000	0.98238	2.612000	0.88384	0.655000	0.94253	GGT		0.522	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3		Missense_Mutation	C	2647124	G	C	2647124	5	2	77	1	0	0	0	0	0	0	1	0	11687	1246	43	3	1452	3	PDPK1	16	2647124	Splice_Site	SNP	G	TCGA-13-0751-01A-01D-0446-08		2647124	87707629	26	3864											
TP53	7157	broad.mit.edu	37	17	7573984	7573985	+	Frame_Shift_Ins	INS	-	-	AGGCCTT			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	-	-	AGGCCTT	AGGCCTT	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr17:7573984_7573985insAGGCCTT	ENST00000269305.4	-	10	1231_1232	c.1042_1043insAAGGCCT	c.(1042-1044)ttgfs	p.-347fs	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.-347fs|TP53_ENST00000455263.2_3'UTR	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						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.0?(8)|p.L348*(2)|p.L344fs*22(1)|p.?(1)|p.L348fs*1(1)|p.I332fs*5(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)	CTTGAGTTCCAAGGCCTCATTC	0.589		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"	14	Whole gene deletion(8)|Substitution - Nonsense(2)|Deletion - Frameshift(2)|Unknown(1)|Insertion - Frameshift(1)	bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|oesophagus(1)|lung(1)|ovary(1)	17																																								7514710	SO:0001589	frameshift_variant	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.1042_1043insAAGGCCT	17.37:g.7573984_7573985insAGGCCTT	ENSP00000269305:p.Ala347fs		7514709	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.589	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		AGGCCTT	7573985	-	AGGCCTT	7573984	7	5	77	1	0	1	1	0	0	0	0	0	16381	131	5	0	146	0	TP53	17	7573984	Frame_Shift_Ins	INS	-	TCGA-13-0751-01A-01D-0446-08		7573984	73621226	27	3865											
PNPLA6	10908	broad.mit.edu	37	19	7621564	7621564	+	Silent	SNP	C	C	T	rs148831568	byFrequency	TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr19:7621564C>T	ENST00000221249.6	+	29	3551	c.3120C>T	c.(3118-3120)aaC>aaT	p.N1040N	PNPLA6_ENST00000600737.1_Silent_p.N1078N|PNPLA6_ENST00000545201.2_Silent_p.N1013N|PNPLA6_ENST00000414982.3_Silent_p.N1088N|PNPLA6_ENST00000450331.3_Silent_p.N1040N	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1079	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.N1040N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTACTTCAACGTGACCACAG	0.667													C|||	5	0.000998403	0.0038	0	5008	,	,		14189	0		0	False		,,,				2504	0															2	Substitution - coding silent(2)	ovary(1)|stomach(1)	19						C	,,,,	21,4385	28.1+/-56.4	0,21,2182	83	68	73		3264,3039,3120,3234,3120	-5.6	1	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PNPLA6	NM_001166111.1,NM_001166112.1,NM_001166113.1,NM_001166114.1,NM_006702.4	,,,,	0,22,6481	TT,TC,CC		0.0116,0.4766,0.1692	,,,,	1088/1376,1013/1301,1040/1328,1078/1366,1040/1328	7621564	22,12984	2203	4300	6503	7527564	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3120C>T	19.37:g.7621564C>T			7527564	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7621564	C	T	7621564	2	4	77	1	0	0	0	0	0	0	0	1	12169	535	19	1		1	PNPLA6	19	7621564	Silent	SNP	C	TCGA-13-0751-01A-01D-0446-08		7621564	51507419	28	3866											
ZNF486	90649	broad.mit.edu	37	19	20307880	20307880	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr19:20307880C>T	ENST00000335117.8	+	4	418	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H112Y(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGCAATTTACACTTTAAAAA	0.353																																																1	Substitution - Missense(1)	ovary(1)	19											84	90	88					19																	20307880		2134	4275	6409	20168880	SO:0001583	missense	90649			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.361C>T	19.37:g.20307880C>T	ENSP00000335042:p.His121Tyr		20168880	Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	c	7.142	0.582101	0.13749	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.04917	3.53	0.85	0.85	0.18980	.	.	.	.	.	T	0.04952	0.0133	L	0.35542	1.07	0.21220	N	0.999757	P	0.34615	0.459	B	0.33339	0.162	T	0.38415	-0.9662	9	0.51188	T	0.08	.	4.7959	0.13272	0.0:1.0:0.0:0.0	.	121	Q96H40	ZN486_HUMAN	Y	160;121	ENSP00000335042:H121Y	ENSP00000335042:H121Y	H	+	1	0	ZNF486	20168880	0.000000	0.05858	0.101000	0.21167	0.100000	0.18952	-0.483000	0.06536	0.192000	0.20272	0.195000	0.17529	CAC		0.353	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		T	20307880	C	T	20307880	3	4	77	1	0	0	0	0	1	0	0	0	17939	478	17	2	375	2	ZNF486	19	20307880	Missense_Mutation	SNP	C	TCGA-13-0751-01A-01D-0446-08	12686316	20307880	38821103	29	3867											
CST1	1469	broad.mit.edu	37	20	23731339	23731339	+	Silent	SNP	A	A	G	rs3188296		TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	ManualReview;Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chr20:23731339A>G	ENST00000304749.2	-	1	235	c.165T>C	c.(163-165)taT>taC	p.Y55Y	CST1_ENST00000398402.1_Silent_p.Y55Y	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	55					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.Y55Y(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TGGCCTTGTTATACTCGCTGA	0.572																																																1	Substitution - coding silent(1)	ovary(1)	20											172	140	151					20																	23731339		2203	4300	6503	23679339	SO:0001819	synonymous_variant	1469			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.165T>C	20.37:g.23731339A>G			23679339	Q96LE6|Q9UCQ6	Silent	SNP	ENST00000304749.2	37	CCDS13160.1																																																																																				0.572	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		G	23731339	A	G	23731339	2	3	77	1	0	0	0	0	0	0	0	1	3970	456	16	4		4	CST1	20	23731339	Silent	SNP	A	TCGA-13-0751-01A-01D-0446-08		23731339	39294181	30	3868											
GYG2	8908	broad.mit.edu	37	X	2774571	2774571	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0751-01A-01D-0446-08	TCGA-13-0751-10A-01D-0446-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9f335cd1-2736-41be-a02b-cdbe4017bb3d	f7803d4b-8f86-40d9-8000-1d8301440cb3	g.chrX:2774571A>T	ENST00000381163.3	+	7	895	c.613A>T	c.(613-615)Agg>Tgg	p.R205W	GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000542787.1_Missense_Mutation_p.R205W|GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000398806.3_Missense_Mutation_p.R174W|GYG2_ENST00000338623.5_Missense_Mutation_p.R205W	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	205					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)	p.R205W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGTTTCTTCAGGAACTGGTC	0.453																																																1	Substitution - Missense(1)	ovary(1)	X											134	105	115					X																	2774571		2203	4298	6501	2784571	SO:0001583	missense	8908			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.613A>T	X.37:g.2774571A>T	ENSP00000370555:p.Arg205Trp		2784571	B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	CCDS14121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.71|13.71	2.317614|2.317614	0.40996|0.40996	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000381157|ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	3.19|3.19	3.19|3.19	0.36642|0.36642	.|.	.|0.080555	.|0.50627	.|D	.|0.000102	T|T	0.52917|0.52917	0.1764|0.1764	L|L	0.58583|0.58583	1.82|1.82	0.24669|0.24669	N|N	0.993427|0.993427	.|D;P;D;D;D;D	.|0.63046	.|0.965;0.931;0.992;0.972;0.961;0.968	.|P;P;P;D;P;D	.|0.66602	.|0.908;0.908;0.849;0.945;0.908;0.945	T|T	0.39800|0.39800	-0.9596|-0.9596	5|10	.|0.87932	.|D	.|0	.|.	6.5855|6.5855	0.22618|0.22618	0.8823:0.0:0.1177:0.0|0.8823:0.0:0.1177:0.0	.|.	.|205;205;165;174;174;205	.|O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.|.;.;.;.;.;GLYG2_HUMAN	L|W	23|174;205;205;205	.|ENSP00000381786:R174W;ENSP00000370555:R205W;ENSP00000341273:R205W;ENSP00000446092:R205W	.|ENSP00000341273:R205W	Q|R	+|+	2|1	0|2	GYG2|GYG2	2784571|2784571	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.055000|0.055000	0.15305|0.15305	5.586000|5.586000	0.67503|0.67503	1.137000|1.137000	0.42214|0.42214	0.425000|0.425000	0.28330|0.28330	CAG|AGG		0.453	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		T	2774571	A	T	2774571	3	4	77	1	0	0	0	0	1	0	0	0	6906	179	7	5	635	5	GYG2	23	2774571	Missense_Mutation	SNP	A	TCGA-13-0751-01A-01D-0446-08		2774571	152495989	31	3869											
SPOCD1	90853	genome.wustl.edu	37	1	32263869	32263869	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:32263869A>C	ENST00000360482.2	-	9	2213	c.2084T>G	c.(2083-2085)aTg>aGg	p.M695R	SPOCD1_ENST00000533231.1_Missense_Mutation_p.M695R|SPOCD1_ENST00000257100.3_Missense_Mutation_p.M188R|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	695	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.M695R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CATCGAGCTCATCCGCACCAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	1											65	72	69					1																	32263869		2203	4300	6503	32036456	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2084T>G	1.37:g.32263869A>C	ENSP00000353670:p.Met695Arg		32036456	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.74|16.74	3.207634|3.207634	0.58343|0.58343	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266|ENST00000528579	T;T;T;T|.	0.56275|.	0.47;0.47;0.47;0.47|.	5.08|5.08	3.87|3.87	0.44632|0.44632	Transcription elongation factor S-II, central domain (4);|.	.|.	.|.	.|.	.|.	T|.	0.80391|.	0.4614|.	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.982;0.998;0.996;0.999|.	P;D;D;D|.	0.77557|.	0.761;0.983;0.978;0.99|.	T|.	0.83339|.	-0.0009|.	9|.	0.72032|.	D|.	0.01|.	-26.2474|-26.2474	7.7184|7.7184	0.28719|0.28719	0.8131:0.0:0.0:0.1869|0.8131:0.0:0.0:0.1869	.|.	39;695;132;695|.	Q6ZMY3-4;Q6ZMY3-2;E9PPM7;Q6ZMY3|.	.;.;.;SPOC1_HUMAN|.	R|G	188;695;93;132;695;80|111	ENSP00000257100:M188R;ENSP00000353670:M695R;ENSP00000399778:M132R;ENSP00000435851:M695R|.	ENSP00000257100:M188R|.	M|X	-|-	2|1	0|0	SPOCD1|SPOCD1	32036456|32036456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.496000|0.496000	0.33645|0.33645	3.915000|3.915000	0.56409|0.56409	2.041000|2.041000	0.60428|0.60428	0.528000|0.528000	0.53228|0.53228	ATG|TGA		0.632	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		C	32263869	A	C	32263869	3	2	78	1	0	0	0	0	1	0	0	0	15080	217	8	5	1598	5	SPOCD1	1	32263869	Missense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09		32263869	216986752	1	3870											
BARHL2	343472	genome.wustl.edu	37	1	91178121	91178121	+	Nonsense_Mutation	SNP	G	G	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:91178121G>C	ENST00000370445.4	-	3	953	c.912C>G	c.(910-912)taC>taG	p.Y304*		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	304					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.Y304*(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCAGCGCCGAGTAGTTCCCTG	0.632																																					GBM(199;3561 4100 22440)											1	Substitution - Nonsense(1)	ovary(1)	1											31	30	30					1																	91178121		2201	4300	6501	90950709	SO:0001587	stop_gained	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.912C>G	1.37:g.91178121G>C	ENSP00000359474:p.Tyr304*		90950709	A0AVP2|Q7Z4N7	Nonsense_Mutation	SNP	ENST00000370445.4	37	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433197	0.62844	.	.	ENSG00000143032	ENST00000370445	.	.	.	5.42	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8319	0.35089	0.2293:0.0:0.7707:0.0	.	.	.	.	X	304	.	ENSP00000359474:Y304X	Y	-	3	2	BARHL2	90950709	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	1.850000	0.39328	1.447000	0.47661	0.556000	0.70494	TAC		0.632	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			C	91178121	G	C	91178121	4	2	78	1	0	0	0	0	0	1	0	0	1314	1024	36	3	255	3	BARHL2	1	91178121	Nonsense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	58914252	91178121	158072500	2	3871											
TXNIP	10628	genome.wustl.edu	37	1	145440063	145440063	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:145440063A>G	ENST00000369317.4	+	4	831	c.497A>G	c.(496-498)aAg>aGg	p.K166R	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	166					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.K166R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAAAAGAAAAGAAAGTTTCC	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											172	195	187					1																	145440063		2203	4300	6503	144151420	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.497A>G	1.37:g.145440063A>G	ENSP00000358323:p.Lys166Arg		144151420	B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244851	0.39697	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.07688	3.17;3.17	5.17	4.05	0.47172	Immunoglobulin E-set (1);	0.056736	0.64402	D	0.000002	T	0.03739	0.0106	M	0.65498	2.005	0.45366	D	0.998352	B;B	0.17852	0.024;0.0	B;B	0.18871	0.023;0.001	T	0.14755	-1.0461	10	0.44086	T	0.13	-8.3208	4.4098	0.11427	0.7362:0.0:0.0911:0.1728	.	111;166	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	R	166;111	ENSP00000358323:K166R;ENSP00000396322:K111R	ENSP00000358323:K166R	K	+	2	0	TXNIP	144151420	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.676000	0.74498	1.005000	0.39183	0.529000	0.55759	AAG		0.413	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		G	145440063	A	G	145440063	3	3	78	1	0	0	0	0	1	0	0	0	16803	72	3	4	511	4	TXNIP	1	145440063	Missense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09	54261942	145440063	103810558	3	3872											
FLG	2312	genome.wustl.edu	37	1	152276913	152276913	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:152276913T>G	ENST00000368799.1	-	3	10484	c.10449A>C	c.(10447-10449)agA>agC	p.R3483S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3483	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R3483S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGCACTTCTGGATCCTG	0.557									Ichthyosis																																							1	Substitution - Missense(1)	ovary(1)	1											303	291	295					1																	152276913		2203	4298	6501	150543537	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10449A>C	1.37:g.152276913T>G	ENSP00000357789:p.Arg3483Ser		150543537	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.087577	0.36855	.	.	ENSG00000143631	ENST00000368799	T	0.01323	5.01	2.86	-5.73	0.02398	.	.	.	.	.	T	0.00998	0.0033	M	0.64997	1.995	0.09310	N	1	D	0.65815	0.995	D	0.79108	0.992	T	0.45906	-0.9229	9	0.09084	T	0.74	.	0.2783	0.00241	0.2481:0.2895:0.1714:0.291	.	3483	P20930	FILA_HUMAN	S	3483	ENSP00000357789:R3483S	ENSP00000357789:R3483S	R	-	3	2	FLG	150543537	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-3.535000	0.00439	-0.806000	0.04398	0.327000	0.21459	AGA		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276913	T	G	152276913	3	3	78	1	0	0	0	0	1	0	0	0	5922	1780	62	5	1740	5	FLG	1	152276913	Missense_Mutation	SNP	T	TCGA-13-0755-01A-01W-0372-09	6836850	152276913	96973708	4	3873											
TRIM46	80128	genome.wustl.edu	37	1	155154504	155154504	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:155154504C>G	ENST00000334634.4	+	9	1765	c.1765C>G	c.(1765-1767)Cag>Gag	p.Q589E	TRIM46_ENST00000545012.1_Missense_Mutation_p.Q463E|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.Q566E|TRIM46_ENST00000368383.3_Missense_Mutation_p.Q589E|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	589	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q589E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTGTGACCCAGGGCCGCAG	0.657																																																1	Substitution - Missense(1)	ovary(1)	1											25	24	24					1																	155154504		2203	4300	6503	153421128	SO:0001583	missense	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1765C>G	1.37:g.155154504C>G	ENSP00000334657:p.Gln589Glu		153421128	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729699	0.30684	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.60548	0.18;2.61;0.18;0.18	4.06	4.06	0.47325	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000002	T	0.31918	0.0812	L	0.40543	1.245	0.35632	D	0.810265	B;B	0.17667	0.023;0.023	B;B	0.22880	0.042;0.028	T	0.33033	-0.9884	10	0.49607	T	0.09	.	9.3644	0.38215	0.2134:0.7866:0.0:0.0	.	589;589	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	E	547;463;589;566;589	ENSP00000440254:Q463E;ENSP00000357367:Q589E;ENSP00000357366:Q566E;ENSP00000334657:Q589E	ENSP00000334657:Q589E	Q	+	1	0	TRIM46	153421128	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.538000	0.45710	2.285000	0.76669	0.561000	0.74099	CAG		0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		G	155154504	C	G	155154504	3	3	78	1	0	0	0	0	1	0	0	0	16521	595	21	3	1799	3	TRIM46	1	155154504	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	2877591	155154504	94096117	5	3874											
YY1AP1	55249	genome.wustl.edu	37	1	155638494	155638494	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:155638494G>C	ENST00000295566.4	-	9	964	c.941C>G	c.(940-942)aCc>aGc	p.T314S	YY1AP1_ENST00000368340.5_Missense_Mutation_p.T386S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.T268S|YY1AP1_ENST00000361831.5_Missense_Mutation_p.T257S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.T406S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.T114S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.T268S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.T257S|YY1AP1_ENST00000405763.3_Missense_Mutation_p.T406S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.T237S|YY1AP1_ENST00000476093.1_5'Flank|YY1AP1_ENST00000404643.1_Missense_Mutation_p.T248S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.T237S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.T268S	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	314					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T314S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGTCTTGCAGGTTAGAAGGTA	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											251	213	226					1																	155638494		2203	4300	6503	153905118	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.941C>G	1.37:g.155638494G>C	ENSP00000295566:p.Thr314Ser		153905118	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531389	0.64972	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763	T;T;T;T;T;T;T;T;T;T;T;T	0.25414	1.84;1.84;1.86;1.84;1.84;1.85;1.86;1.84;1.86;1.87;1.8;1.87	3.4	3.4	0.38934	.	0.196398	0.34223	N	0.004150	T	0.28300	0.0699	M	0.68952	2.095	0.80722	D	1	P;D;P;P;D;P;P	0.64830	0.894;0.994;0.763;0.944;0.994;0.945;0.838	P;P;B;P;P;P;B	0.58520	0.591;0.84;0.43;0.671;0.791;0.539;0.414	T	0.08994	-1.0695	10	0.14656	T	0.56	.	14.9327	0.70929	0.0:0.0:1.0:0.0	.	334;406;248;406;314;268;386	B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	S	257;268;237;268;257;386;314;268;237;248;406;114;406	ENSP00000352134:T257S;ENSP00000347686:T268S;ENSP00000311138:T237S;ENSP00000316079:T268S;ENSP00000355298:T257S;ENSP00000357324:T386S;ENSP00000295566:T314S;ENSP00000357314:T268S;ENSP00000385791:T237S;ENSP00000385390:T248S;ENSP00000357323:T406S;ENSP00000437926:T114S	ENSP00000295566:T314S	T	-	2	0	YY1AP1	153905118	0.998000	0.40836	0.989000	0.46669	0.993000	0.82548	6.319000	0.72871	1.879000	0.54435	0.462000	0.41574	ACC		0.418	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		C	155638494	G	C	155638494	3	2	78	1	0	0	0	0	1	0	0	0	17508	1261	44	3	1461	3	YY1AP1	1	155638494	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	483990	155638494	93612127	6	3875											
FCRL5	83416	genome.wustl.edu	37	1	157512668	157512668	+	Silent	SNP	A	A	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:157512668A>C	ENST00000361835.3	-	6	1261	c.1104T>G	c.(1102-1104)gcT>gcG	p.A368A	FCRL5_ENST00000368189.3_Silent_p.A368A|FCRL5_ENST00000368191.3_Silent_p.A283A|FCRL5_ENST00000356953.4_Silent_p.A368A|FCRL5_ENST00000368190.3_Silent_p.A368A	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	368	Ig-like C2-type 3.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.A368A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGGCTCACAGCCTTACTGG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	1											127	121	123					1																	157512668		2203	4300	6503	155779292	SO:0001819	synonymous_variant	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1104T>G	1.37:g.157512668A>C			155779292	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	CCDS1165.1																																																																																				0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		C	157512668	A	C	157512668	2	2	78	1	0	0	0	0	0	0	0	1	5798	175	7	5		5	FCRL5	1	157512668	Silent	SNP	A	TCGA-13-0755-01A-01W-0372-09	1874174	157512668	91737953	7	3876											
USP21	27005	genome.wustl.edu	37	1	161132065	161132065	+	Silent	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:161132065C>T	ENST00000289865.8	+	4	887	c.666C>T	c.(664-666)ttC>ttT	p.F222F	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Silent_p.F222F|USP21_ENST00000368002.3_Silent_p.F222F	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	222	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F222F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCAGTGCTTCCTGAATGCTG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	1											74	73	73					1																	161132065		2203	4300	6503	159398689	SO:0001819	synonymous_variant	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.666C>T	1.37:g.161132065C>T			159398689	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1																																																																																				0.587	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			T	161132065	C	T	161132065	2	4	78	1	0	0	0	0	0	0	0	1	17053	854	30	2		2	USP21	1	161132065	Silent	SNP	C	TCGA-13-0755-01A-01W-0372-09	3619397	161132065	88118556	8	3877											
KDM5B	10765	genome.wustl.edu	37	1	202711575	202711576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	-	-	C	C	-	-	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:202711575_202711576insC	ENST00000367265.3	-	18	3696_3697	c.2532_2533insG	c.(2530-2535)cagtttfs	p.F845fs	KDM5B_ENST00000367264.2_Frame_Shift_Ins_p.F881fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	845					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.F982fs*32(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGTGTTACAAACTGCCGGAGCT	0.436																																																1	Insertion - Frameshift(1)	ovary(1)	1																																								200978199	SO:0001589	frameshift_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2533dupG	1.37:g.202711576_202711576dupC	ENSP00000356234:p.Phe845fs		200978198	O95811|Q15752|Q9Y3Q5	Frame_Shift_Ins	INS	ENST00000367265.3	37	CCDS30974.1																																																																																				0.436	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		C	202711576	-	C	202711575	7	5	78	1	0	1	1	0	0	0	0	0	8134	43	2	0	2141	0	KDM5B	1	202711575	Frame_Shift_Ins	INS	-	TCGA-13-0755-01A-01W-0372-09	41579510	202711575	46539046	9	3878											
AVPR1B	553	genome.wustl.edu	37	1	206225335	206225335	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:206225335delA	ENST00000367126.4	+	1	1360	c.895delA	c.(895-897)agtfs	p.S299fs	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	299					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.S299fs*82(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCCCTTCTTCAGTGTCCAGAT	0.557																																																1	Deletion - Frameshift(1)	ovary(1)	1											89	81	84					1																	206225335		2203	4300	6503	204391958	SO:0001589	frameshift_variant	553			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.895delA	1.37:g.206225335delA	ENSP00000356094:p.Ser299fs		204391958	B0M0J6|Q5TZ00	Frame_Shift_Del	DEL	ENST00000367126.4	37	CCDS30994.1																																																																																				0.557	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		-	206225335	A	-	206225335	7	5	78	1	0	1	0	1	0	0	0	0	1232	188	7	0	897	0	AVPR1B	1	206225335	Frame_Shift_Del	DEL	A	TCGA-13-0755-01A-01W-0372-09	3513760	206225335	43025286	10	3879											
CD34	947	genome.wustl.edu	37	1	208062048	208062048	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:208062048C>G	ENST00000310833.7	-	7	1272	c.951G>C	c.(949-951)tgG>tgC	p.W317C	CD34_ENST00000356522.4_Missense_Mutation_p.W317C|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.W182C|CD34_ENST00000367036.3_Missense_Mutation_p.W159C	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	317					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.W317C(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGTGGGGCTCCAGCTGCGGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											206	224	218					1																	208062048		2203	4300	6503	206128671	SO:0001583	missense	947			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"CD molecules"	1662	protein-coding gene	gene with protein product		142230	"CD34 antigen"			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.951G>C	1.37:g.208062048C>G	ENSP00000310036:p.Trp317Cys		206128671	A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549233	0.65311	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.54	4.54	0.55810	.	0.000000	0.53938	D	0.000049	T	0.49864	0.1582	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.52866	-0.8518	10	0.87932	D	0	-6.3435	13.0066	0.58707	0.0:1.0:0.0:0.0	.	182;317;317;159	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	C	317;317;159;182;287	ENSP00000310036:W317C;ENSP00000348916:W317C;ENSP00000356003:W159C;ENSP00000442874:W182C	ENSP00000310036:W317C	W	-	3	0	CD34	206128671	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	TGG		0.557	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		G	208062048	C	G	208062048	3	3	78	1	0	0	0	0	1	0	0	0	3006	856	30	3	233	3	CD34	1	208062048	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	1836713	208062048	41188573	11	3880											
RBM34	23029	genome.wustl.edu	37	1	235324283	235324283	+	Silent	SNP	A	A	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:235324283A>G	ENST00000408888.3	-	2	383	c.153T>C	c.(151-153)ggT>ggC	p.G51G	RBM34_ENST00000366606.3_Silent_p.G46G			P42696	RBM34_HUMAN	RNA binding motif protein 34	51						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G51G(1)		central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GACCGGTGCCACCTCTGGAAT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	1											44	49	47					1																	235324283		1930	4132	6062	233390906	SO:0001819	synonymous_variant	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.153T>C	1.37:g.235324283A>G			233390906	A8K8J7|Q8N2Z8|Q9H5A1	Silent	SNP	ENST00000408888.3	37	CCDS41477.2																																																																																				0.592	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		G	235324283	A	G	235324283	2	3	78	1	0	0	0	0	0	0	0	1	13134	146	6	4		4	RBM34	1	235324283	Silent	SNP	A	TCGA-13-0755-01A-01W-0372-09	27262235	235324283	13926338	12	3881											
CEP170	9859	genome.wustl.edu	37	1	243336021	243336021	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr1:243336021G>A	ENST00000366542.1	-	11	1745	c.1694C>T	c.(1693-1695)aCa>aTa	p.T565I	CEP170_ENST00000366543.1_Missense_Mutation_p.T467I|CEP170_ENST00000366544.1_Missense_Mutation_p.T467I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	565						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.T565I(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AAATCCAGATGTAGTCAGTGG	0.348																																																1	Substitution - Missense(1)	ovary(1)	1											35	34	34					1																	243336021		1803	4067	5870	241402644	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1694C>T	1.37:g.243336021G>A	ENSP00000355500:p.Thr565Ile		241402644	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.38|11.38	1.622553|1.622553	0.28889|0.28889	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543	.|T;T;T	.|0.46451	.|0.87;0.89;0.88	5.35|5.35	4.44|4.44	0.53790|0.53790	.|.	.|0.471757	.|0.23799	.|N	.|0.044443	T|T	0.33206|0.33206	0.0855|0.0855	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.06786	.|0.001;0.001;0.0	.|B;B;B	.|0.06405	.|0.001;0.002;0.001	T|T	0.07712|0.07712	-1.0758|-1.0758	5|10	.|0.34782	.|T	.|0.22	-5.0144|-5.0144	12.3733|12.3733	0.55265|0.55265	0.0785:0.0:0.9215:0.0|0.0785:0.0:0.9215:0.0	.|.	.|467;467;565	.|Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;CE170_HUMAN	Y|I	529|565;467;467	.|ENSP00000355500:T565I;ENSP00000355502:T467I;ENSP00000355501:T467I	.|ENSP00000355500:T565I	H|T	-|-	1|2	0|0	CEP170|CEP170	241402644|241402644	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.456000|0.456000	0.32438|0.32438	4.391000|4.391000	0.59652|0.59652	1.265000|1.265000	0.44215|0.44215	0.455000|0.455000	0.32223|0.32223	CAT|ACA		0.348	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		A	243336021	G	A	243336021	3	1	78	1	0	0	0	0	1	0	0	0	3250	1377	48	2	3130	2	CEP170	1	243336021	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	8011738	243336021	5914600	13	3882											
CCDC85A	114800	genome.wustl.edu	37	2	56419726	56419726	+	Missense_Mutation	SNP	C	C	T	rs541266691		TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr2:56419726C>T	ENST00000407595.2	+	2	893	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	131								p.R131C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGACTGGGTCGCTACACTGC	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		17860	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2											62	72	68					2																	56419726		2038	4199	6237	56273230	SO:0001583	missense	114800			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.391C>T	2.37:g.56419726C>T	ENSP00000384040:p.Arg131Cys		56273230		Missense_Mutation	SNP	ENST00000407595.2	37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284733	0.59867	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.42	4.46	0.54185	.	0.051596	0.85682	D	0.000000	T	0.79358	0.4432	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.82557	-0.0398	9	0.87932	D	0	-0.1288	15.1831	0.72975	0.2128:0.7872:0.0:0.0	.	131	Q96PX6	CC85A_HUMAN	C	131	.	ENSP00000384040:R131C	R	+	1	0	CCDC85A	56273230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.969000	0.49232	2.532000	0.85374	0.655000	0.94253	CGC		0.557	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			T	56419726	C	T	56419726	3	4	78	1	0	0	0	0	1	0	0	0	2859	884	31	1	397	1	CCDC85A	2	56419726	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09		56419726	186779647	14	3883											
ASPRV1	151516	genome.wustl.edu	37	2	70188686	70188686	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr2:70188686delT	ENST00000320256.4	-	1	711	c.135delA	c.(133-135)caafs	p.Q45fs	PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.V46fs*14(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGGGGATGACTTGCCCGGCCT	0.637																																																1	Deletion - Frameshift(1)	ovary(1)	2											47	48	48					2																	70188686		2203	4300	6503	70042190	SO:0001589	frameshift_variant	151516			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.135delA	2.37:g.70188686delT	ENSP00000315383:p.Gln45fs		70042190		Frame_Shift_Del	DEL	ENST00000320256.4	37	CCDS1897.1																																																																																				0.637	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		-	70188686	T	-	70188686	7	5	78	1	0	1	0	1	0	0	0	0	1058	1606	56	0	900	0	ASPRV1	2	70188686	Frame_Shift_Del	DEL	T	TCGA-13-0755-01A-01W-0372-09	13768960	70188686	173010687	15	3884											
NXPH2	11249	genome.wustl.edu	37	2	139428965	139428965	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr2:139428965A>T	ENST00000272641.3	-	2	428	c.322T>A	c.(322-324)Ttt>Att	p.F108I		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	108	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.F108I(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATTTTCTTAAATTTTCCTGTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											85	78	80					2																	139428965		1843	4089	5932	139145435	SO:0001583	missense	11249			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.322T>A	2.37:g.139428965A>T	ENSP00000272641:p.Phe108Ile		139145435	B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295299	0.81025	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	M	0.66939	2.045	0.80722	D	1	D	0.64830	0.994	D	0.71656	0.974	T	0.76809	-0.2822	8	.	.	.	-18.3434	16.2026	0.82095	1.0:0.0:0.0:0.0	.	108	O95156	NXPH2_HUMAN	I	108	.	.	F	-	1	0	NXPH2	139145435	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.287000	0.95975	2.285000	0.76669	0.533000	0.62120	TTT		0.408	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			T	139428965	A	T	139428965	3	4	78	1	0	0	0	0	1	0	0	0	10791	101	4	5	476	5	NXPH2	2	139428965	Missense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09	69240279	139428965	103770408	16	3885											
NXPH2	11249	genome.wustl.edu	37	2	139429227	139429227	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr2:139429227A>T	ENST00000272641.3	-	2	166	c.60T>A	c.(58-60)tgT>tgA	p.C20*		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	20					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.C20*(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCTTACTGTCACAAAATAGCT	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	2											49	48	48					2																	139429227		1908	4115	6023	139145697	SO:0001587	stop_gained	11249			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.60T>A	2.37:g.139429227A>T	ENSP00000272641:p.Cys20*		139145697	B7WP24|Q494R1|Q75QC3	Nonsense_Mutation	SNP	ENST00000272641.3	37	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447399	0.63178	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	6.17	0.99709	.	0.266775	0.39020	N	0.001497	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.4021	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	.	.	.	X	20	.	.	C	-	3	2	NXPH2	139145697	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	3.792000	0.55476	2.371000	0.80710	0.533000	0.62120	TGT		0.463	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			T	139429227	A	T	139429227	4	4	78	1	0	0	0	0	0	1	0	0	10791	157	6	5	738	5	NXPH2	2	139429227	Nonsense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09	262	139429227	103770146	17	3886											
PKP4	8502	genome.wustl.edu	37	2	159519424	159519424	+	Missense_Mutation	SNP	G	G	A	rs374838936		TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr2:159519424G>A	ENST00000389759.3	+	14	2339	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PKP4_ENST00000389757.3_Missense_Mutation_p.V743M|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	743					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.V743M(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						GGAGAACTGCGTGTGCACCCT	0.498										HNSCC(62;0.18)																																						1	Substitution - Missense(1)	ovary(1)	2						G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	55	57	56		2227,2227	5.7	1	2		56	0,8600		0,0,4300	no	missense,missense	PKP4	NM_001005476.1,NM_003628.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	743/1150,743/1193	159519424	1,13005	2203	4300	6503	159227670	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.2227G>A	2.37:g.159519424G>A	ENSP00000374409:p.Val743Met		159227670	Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345785	0.61073	2.27E-4	0.0	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	D;D	0.84944	-1.92;-1.92	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.258302	0.39274	N	0.001416	D	0.91240	0.7239	M	0.62209	1.925	0.80722	D	1	D;D;P;D	0.71674	0.992;0.994;0.614;0.998	P;P;B;D	0.65010	0.79;0.848;0.135;0.931	D	0.91520	0.5234	10	0.87932	D	0	-10.6953	19.8968	0.96969	0.0:0.0:1.0:0.0	.	698;743;743;594	Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	M	594;743;743	ENSP00000374407:V743M;ENSP00000374409:V743M	ENSP00000374407:V743M	V	+	1	0	PKP4	159227670	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.106000	0.64597	2.691000	0.91804	0.655000	0.94253	GTG		0.498	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			A	159519424	G	A	159519424	3	1	78	1	0	0	0	0	1	0	0	0	11987	1145	40	1	2277	1	PKP4	2	159519424	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	20090197	159519424	83679949	18	3887											
BAZ2B	29994	genome.wustl.edu	37	2	160240191	160240191	+	Splice_Site	SNP	A	A	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr2:160240191A>T	ENST00000392783.2	-	24	4182	c.3687T>A	c.(3685-3687)agT>agA	p.S1229R	BAZ2B_ENST00000355831.2_Splice_Site_p.S1195R|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Splice_Site_p.S1193R|BAZ2B_ENST00000343439.5_Splice_Site_p.S1129R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S1229R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTCGATTTCACTGCCAATGC	0.284																																																1	Substitution - Missense(1)	ovary(1)	2											112	99	103					2																	160240191		1824	4064	5888	159948437	SO:0001630	splice_region_variant	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3687-1T>A	2.37:g.160240191A>T			159948437	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	A	17.91	3.503747	0.64298	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.58210	0.43;0.44;0.43;0.35	5.77	5.77	0.91146	.	0.000000	0.43416	U	0.000568	T	0.56187	0.1968	N	0.15975	0.35	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.962;0.996	T	0.55509	-0.8130	10	0.24483	T	0.36	.	16.3892	0.83528	1.0:0.0:0.0:0.0	.	1193;1229	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	R	1193;1229;1195;1129	ENSP00000376533:S1193R;ENSP00000376534:S1229R;ENSP00000348087:S1195R;ENSP00000339670:S1129R	ENSP00000339670:S1129R	S	-	3	2	BAZ2B	159948437	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.472000	0.53114	2.330000	0.79161	0.477000	0.44152	AGT		0.284	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		Missense_Mutation	T	160240191	A	T	160240191	5	4	78	1	0	0	0	0	0	0	1	0	1332	173	6	5	2875	5	BAZ2B	2	160240191	Splice_Site	SNP	A	TCGA-13-0755-01A-01W-0372-09	720767	160240191	82959182	19	3888											
TTN	7273	genome.wustl.edu	37	2	179458169	179458169	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr2:179458169G>C	ENST00000591111.1	-	249	54067	c.53843C>G	c.(53842-53844)aCa>aGa	p.T17948R	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T10649R|TTN_ENST00000460472.2_Missense_Mutation_p.T10524R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T10716R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T17021R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T19589R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17948	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T17019R(1)|p.T10524R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAACTTCTGTAACAATTGG	0.363																																																2	Substitution - Missense(2)	ovary(2)	2											62	61	61					2																	179458169		1860	4101	5961	179166415	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53843C>G	2.37:g.179458169G>C	ENSP00000465570:p.Thr17948Arg		179166415	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	9.485	1.099264	0.20552	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54967	0.1891	L	0.55990	1.75	0.34614	D	0.717838	P;P;P;P	0.34864	0.473;0.473;0.473;0.473	B;B;B;B	0.34931	0.192;0.192;0.192;0.192	T	0.68262	-0.5455	9	0.87932	D	0	.	13.6708	0.62424	0.0:0.0:0.7491:0.2509	.	10524;10649;10716;17948	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	17021;10524;10716;10649;10522	ENSP00000343764:T17021R;ENSP00000434586:T10524R;ENSP00000340554:T10716R;ENSP00000352154:T10649R	ENSP00000340554:T10716R	T	-	2	0	TTN	179166415	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.998000	0.57024	2.937000	0.99478	0.650000	0.86243	ACA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179458169	G	C	179458169	3	2	78	1	0	0	0	0	1	0	0	0	16735	1377	48	3	49469	3	TTN	2	179458169	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	19217978	179458169	63741204	20	3889											
TTN	7273	genome.wustl.edu	37	2	179605096	179605096	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr2:179605096C>A	ENST00000591111.1	-	46	12137	c.11913G>T	c.(11911-11913)gaG>gaT	p.E3971D	TTN_ENST00000359218.5_Missense_Mutation_p.E4050D|TTN_ENST00000460472.2_Missense_Mutation_p.E3925D|TTN_ENST00000342175.6_Missense_Mutation_p.E4117D|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E4288D|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3925D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTAGGGGCTCATAGTTTA	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											70	66	67					2																	179605096		1913	4124	6037	179313341	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11913G>T	2.37:g.179605096C>A	ENSP00000465570:p.Glu3971Asp		179313341	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.90	1.482262	0.26598	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;D;D	0.81821	-1.38;-1.53;-1.54	5.3	0.0206	0.14125	.	.	.	.	.	T	0.68622	0.3021	L	0.36672	1.1	0.21984	N	0.999435	B;B;B	0.16603	0.018;0.018;0.018	B;B;B	0.15052	0.012;0.012;0.012	T	0.59473	-0.7448	9	0.87932	D	0	.	5.4843	0.16741	0.1308:0.4094:0.0:0.4598	.	3925;4050;4117	D3DPF9;E7EQE6;E7ET18	.;.;.	D	3925;4117;4050;3925	ENSP00000434586:E3925D;ENSP00000340554:E4117D;ENSP00000352154:E4050D	ENSP00000340554:E4117D	E	-	3	2	TTN	179313341	0.996000	0.38824	0.765000	0.31456	0.888000	0.51559	0.296000	0.19083	0.171000	0.19730	0.655000	0.94253	GAG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179605096	C	A	179605096	3	1	78	1	0	0	0	0	1	0	0	0	16735	796	28	3	91925	3	TTN	2	179605096	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	146927	179605096	63594277	21	3890											
ALS2CR11	151254	genome.wustl.edu	37	2	202430564	202430564	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr2:202430564G>T	ENST00000286195.3	-	9	909	c.865C>A	c.(865-867)Cca>Aca	p.P289T	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.P289T|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.P289T|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.P289T	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	289								p.P289T(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AAGAATGCTGGATATTCTACT	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											86	85	85					2																	202430564		2203	4300	6503	202138809	SO:0001583	missense	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.865C>A	2.37:g.202430564G>T	ENSP00000286195:p.Pro289Thr		202138809	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909670	0.72983	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000026	T	0.63943	0.2554	M	0.65498	2.005	0.39143	D	0.962088	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.68262	-0.5455	10	0.87932	D	0	.	16.4188	0.83752	0.0:0.0:1.0:0.0	.	289;289;289	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	T	289	ENSP00000286195:P289T;ENSP00000400672:P289T;ENSP00000409937:P289T;ENSP00000399016:P289T	ENSP00000286195:P289T	P	-	1	0	ALS2CR11	202138809	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.431000	0.52814	2.602000	0.87976	0.655000	0.94253	CCA		0.388	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		T	202430564	G	T	202430564	3	4	78	1	0	0	0	0	1	0	0	0	552	1174	41	3	4776	3	ALS2CR11	2	202430564	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	22825468	202430564	40768809	22	3891											
RAD54L2	23132	genome.wustl.edu	37	3	51673615	51673615	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr3:51673615A>C	ENST00000409535.2	+	12	2166	c.2041A>C	c.(2041-2043)Agc>Cgc	p.S681R	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S375R	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	681						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.S681R(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGCAACCAATAGCAAGTTCCT	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											78	67	71					3																	51673615		2203	4300	6503	51648655	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2041A>C	3.37:g.51673615A>C	ENSP00000386520:p.Ser681Arg		51648655	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.27|15.27	2.783180|2.783180	0.49891|0.49891	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.93763|.	-3.2;-3.28|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.184267|.	0.56097|.	D|.	0.000029|.	T|.	0.55369|.	0.1916|.	L|L	0.29908|0.29908	0.895|0.895	0.42341|0.42341	D|D	0.992338|0.992338	B;B|.	0.27351|.	0.031;0.176|.	B;B|.	0.17098|.	0.01;0.017|.	T|.	0.52983|.	-0.8502|.	10|.	0.37606|.	T|.	0.19|.	-17.8699|-17.8699	15.2779|15.2779	0.73756|0.73756	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	681;272|.	Q9Y4B4;B3KV54|.	ARIP4_HUMAN;.|.	R|S	681;375|509	ENSP00000386520:S681R;ENSP00000296477:S375R|.	ENSP00000296477:S375R|.	S|X	+|+	1|2	0|0	RAD54L2|RAD54L2	51648655|51648655	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.990000|0.990000	0.78478|0.78478	3.825000|3.825000	0.55730|0.55730	2.195000|2.195000	0.70347|0.70347	0.533000|0.533000	0.62120|0.62120	AGC|TAG		0.537	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		C	51673615	A	C	51673615	3	2	78	1	0	0	0	0	1	0	0	0	12997	420	15	5	2083	5	RAD54L2	3	51673615	Missense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09		51673615	146348815	23	3892											
MYH15	22989	genome.wustl.edu	37	3	108195349	108195349	+	Silent	SNP	A	A	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr3:108195349A>T	ENST00000273353.3	-	13	1244	c.1188T>A	c.(1186-1188)gcT>gcA	p.A396A		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	396	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A396A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGAGGAAAGCAGCTTTGTCAG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	3											69	63	65					3																	108195349		1908	4127	6035	109678039	SO:0001819	synonymous_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1188T>A	3.37:g.108195349A>T			109678039		Silent	SNP	ENST00000273353.3	37	CCDS43127.1																																																																																				0.403	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		T	108195349	A	T	108195349	2	4	78	1	0	0	0	0	0	0	0	1	10034	175	7	5		5	MYH15	3	108195349	Silent	SNP	A	TCGA-13-0755-01A-01W-0372-09	56521734	108195349	89827081	24	3893											
SR140	23350	genome.wustl.edu	37	3	142757044	142757056	+	Splice_Site	DEL	GGGTGAGTAAAAG	GGGTGAGTAAAAG	-			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	GGGTGAGTAAAAG	GGGTGAGTAAAAG	GGGTGAGTAAAAG	-	GGGTGAGTAAAAG	GGGTGAGTAAAAG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr3:142757044_142757056delGGGTGAGTAAAAG	ENST00000473835.2	+	22	2406_2407	c.2316_2317delGGGTGAGTAAAAG	c.(2314-2319)cagggt>cagt	p.G773fs	U2SURP_ENST00000397933.2_Splice_Site_p.G364fs|U2SURP_ENST00000493598.2_Splice_Site_p.G772fs	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	773	Glu-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGGAAGCACAGGGTGAGTAAAAGtaaaataaat	0.3																																																1	Unknown(1)	ovary(1)	3																																								144239746	SO:0001630	splice_region_variant	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2317+1GGGTGAGTAAAAG>-	3.37:g.142757044_142757056delGGGTGAGTAAAAG			144239734	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Frame_Shift_Del	DEL	ENST00000473835.2	37	CCDS46928.1																																																																																				0.3	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	Frame_Shift_Del	-	142757056	GGGTGAGTAAAAG	-	142757044	8	5	78	1	0	1	0	1	0	0	1	0	15133	1014	35	0	2402	0	SR140	3	142757044	Splice_Site	DEL	GGGTGAGTAAAAG	TCGA-13-0755-01A-01W-0372-09	34561695	142757044	55265386	25	3894											
MBNL1	4154	genome.wustl.edu	37	3	152018065	152018065	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr3:152018065C>G	ENST00000463374.1	+	1	594	c.83C>G	c.(82-84)tCa>tGa	p.S28*	MBNL1_ENST00000355460.2_Nonsense_Mutation_p.S28*|MBNL1_ENST00000324210.5_Nonsense_Mutation_p.S28*|MBNL1_ENST00000324196.5_Nonsense_Mutation_p.S28*|MBNL1_ENST00000282488.7_Nonsense_Mutation_p.S28*|MBNL1_ENST00000282486.6_Nonsense_Mutation_p.S28*|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000545754.1_Nonsense_Mutation_p.S28*|MBNL1_ENST00000498502.1_Nonsense_Mutation_p.S28*|MBNL1_ENST00000492948.1_Nonsense_Mutation_p.S28*|MBNL1_ENST00000485509.1_Nonsense_Mutation_p.S28*|MBNL1_ENST00000485910.1_Nonsense_Mutation_p.S28*|MBNL1_ENST00000357472.3_Nonsense_Mutation_p.S28*	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	28					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S28*(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGGACTTGCTCACGGCCAGAC	0.438																																																2	Substitution - Nonsense(2)	ovary(2)	3											107	103	104					3																	152018065		2203	4300	6503	153500755	SO:0001587	stop_gained	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.83C>G	3.37:g.152018065C>G	ENSP00000418108:p.Ser28*		153500755	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Nonsense_Mutation	SNP	ENST00000463374.1	37	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.042665|9.042665	0.99046|0.99046	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.146378	.|0.48286	.|D	.|0.000200	T|.	0.81583|.	0.4853|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83541|.	0.0096|.	3|.	.|0.72032	.|D	.|0.01	.|.	19.297|19.297	0.94126|0.94126	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	27|28	.|.	.|ENSP00000282486:S28X	H|S	+|+	1|2	0|0	MBNL1|MBNL1	153500755|153500755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.847000|5.847000	0.69451|0.69451	2.561000|2.561000	0.86390|0.86390	0.586000|0.586000	0.80456|0.80456	CAC|TCA		0.438	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		G	152018065	C	G	152018065	4	3	78	1	0	0	0	0	0	1	0	0	9353	838	29	3	85	3	MBNL1	3	152018065	Nonsense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	9261021	152018065	46004365	26	3895											
ATP13A3	79572	genome.wustl.edu	37	3	194152547	194152547	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr3:194152547C>A	ENST00000439040.1	-	22	3111	c.2320G>T	c.(2320-2322)Gct>Tct	p.A774S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.A774S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	774						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.A774S(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AATGCTTCAGCAATAATCACT	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											87	81	83					3																	194152547		1923	4139	6062	195633836	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2320G>T	3.37:g.194152547C>A	ENSP00000416508:p.Ala774Ser		195633836	Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390934	0.95988	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.67523	-0.27;-0.27	5.71	5.71	0.89125	HAD-like domain (1);	0.048651	0.85682	D	0.000000	T	0.70456	0.3226	L	0.31845	0.965	0.80722	D	1	P	0.39157	0.662	P	0.53035	0.716	T	0.61642	-0.7021	10	0.15952	T	0.53	-0.4359	19.8593	0.96777	0.0:1.0:0.0:0.0	.	774	Q9H7F0	AT133_HUMAN	S	774;774;512	ENSP00000416508:A774S;ENSP00000256031:A774S	ENSP00000256031:A774S	A	-	1	0	ATP13A3	195633836	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.175000	0.77632	2.700000	0.92200	0.557000	0.71058	GCT		0.403	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		A	194152547	C	A	194152547	3	1	78	1	0	0	0	0	1	0	0	0	1125	710	25	3	1408	3	ATP13A3	3	194152547	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	42134482	194152547	3869883	27	3896											
OTOP1	133060	genome.wustl.edu	37	4	4199452	4199452	+	Missense_Mutation	SNP	C	C	T	rs374014211		TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr4:4199452C>T	ENST00000296358.4	-	5	1133	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	370					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R370Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGTAAATCCGGATTCCAGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	4						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	39	44	42		1109	1	0	4		42	0,8600		0,0,4300	no	missense	OTOP1	NM_177998.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	370/613	4199452	1,13005	2203	4300	6503	4250353	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1109G>A	4.37:g.4199452C>T	ENSP00000296358:p.Arg370Gln		4250353	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	4.812	0.151037	0.09185	2.27E-4	0.0	ENSG00000163982	ENST00000296358	T	0.08193	3.12	4.8	0.958	0.19619	.	0.850416	0.10371	N	0.682800	T	0.07683	0.0193	L	0.44542	1.39	0.09310	N	1	B	0.23854	0.092	B	0.17979	0.02	T	0.34354	-0.9832	10	0.49607	T	0.09	-3.6484	6.2777	0.20989	0.5295:0.3167:0.0:0.1537	.	370	Q7RTM1	OTOP1_HUMAN	Q	370	ENSP00000296358:R370Q	ENSP00000296358:R370Q	R	-	2	0	OTOP1	4250353	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	1.011000	0.29911	-0.070000	0.12908	0.404000	0.27445	CGG		0.582	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		T	4199452	C	T	4199452	3	4	78	1	0	0	0	0	1	0	0	0	11305	652	23	1	737	1	OTOP1	4	4199452	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09		4199452	186954824	28	3897											
PROM1	8842	genome.wustl.edu	37	4	16020132	16020132	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr4:16020132G>T	ENST00000510224.1	-	9	1064	c.816C>A	c.(814-816)aaC>aaA	p.N272K	PROM1_ENST00000543373.1_Missense_Mutation_p.N263K|PROM1_ENST00000447510.2_Missense_Mutation_p.N272K|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000508167.1_Missense_Mutation_p.N263K|PROM1_ENST00000539194.1_Missense_Mutation_p.N272K|PROM1_ENST00000540805.1_Missense_Mutation_p.N272K|PROM1_ENST00000505450.1_Missense_Mutation_p.N263K			O43490	PROM1_HUMAN	prominin 1	272					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.N271K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGCTGTTCATGTTCTCCAACG	0.493																																																1	Substitution - Missense(1)	ovary(1)	4											117	112	114					4																	16020132		2084	4211	6295	15629230	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.816C>A	4.37:g.16020132G>T	ENSP00000426809:p.Asn272Lys		15629230	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257718	0.39896	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.39	-1.66	0.08265	.	0.430329	0.27486	N	0.019156	T	0.29556	0.0737	M	0.73962	2.25	0.09310	N	1	B;B;B;B;B;B	0.31227	0.314;0.314;0.314;0.314;0.052;0.198	B;B;B;B;B;B	0.34931	0.17;0.17;0.118;0.17;0.018;0.192	T	0.33904	-0.9850	10	0.05833	T	0.94	-7.3092	0.5124	0.00597	0.2244:0.3136:0.1745:0.2875	.	263;272;263;272;263;272	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	K	272;272;272;263;263;272;263	ENSP00000415481:N272K;ENSP00000438045:N272K;ENSP00000443620:N272K;ENSP00000426090:N263K;ENSP00000427346:N263K;ENSP00000426809:N272K;ENSP00000445526:N263K	ENSP00000415481:N272K	N	-	3	2	PROM1	15629230	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.906000	0.04071	-0.237000	0.09739	0.557000	0.71058	AAC		0.493	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		T	16020132	G	T	16020132	3	4	78	1	0	0	0	0	1	0	0	0	12558	1368	48	3	1857	3	PROM1	4	16020132	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	11820680	16020132	175134144	29	3898											
KIAA1109	84162	genome.wustl.edu	37	4	123161217	123161217	+	Silent	SNP	T	T	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr4:123161217T>A	ENST00000264501.4	+	29	4753	c.4380T>A	c.(4378-4380)ccT>ccA	p.P1460P	KIAA1109_ENST00000388738.3_Silent_p.P1460P|KIAA1109_ENST00000455637.1_Silent_p.P1460P			Q2LD37	K1109_HUMAN	KIAA1109	1460					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P1460P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAACTCATCCTTCTCAGGCTT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	4											94	89	90					4																	123161217		1863	4100	5963	123380667	SO:0001819	synonymous_variant	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4380T>A	4.37:g.123161217T>A			123380667	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	8.806	0.934026	0.18206	.	.	ENSG00000138688	ENST00000446180	.	.	.	6.05	-3.77	0.04346	.	.	.	.	.	T	0.35970	0.0950	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36986	-0.9725	4	.	.	.	.	0.528	0.00623	0.323:0.2132:0.1112:0.3526	.	.	.	.	H	33	.	.	L	+	2	0	KIAA1109	123380667	0.970000	0.33590	0.990000	0.47175	0.988000	0.76386	0.009000	0.13219	-0.446000	0.07149	-0.321000	0.08615	CTT		0.408	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123161217	T	A	123161217	2	1	78	1	0	0	0	0	0	0	0	1	8208	1596	56	5		5	KIAA1109	4	123161217	Silent	SNP	T	TCGA-13-0755-01A-01W-0372-09	107141085	123161217	67993059	30	3899											
DDX60L	91351	genome.wustl.edu	37	4	169315648	169315648	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr4:169315648C>G	ENST00000511577.1	-	28	4025	c.3778G>C	c.(3778-3780)Gtt>Ctt	p.V1260L	DDX60L_ENST00000260184.7_Missense_Mutation_p.V1260L|DDX60L_ENST00000505890.1_Missense_Mutation_p.V1261L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1260	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.V1261L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGTATCTCAACAAACTCTTTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											86	79	81					4																	169315648		1817	4076	5893	169552223	SO:0001583	missense	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3778G>C	4.37:g.169315648C>G	ENSP00000422423:p.Val1260Leu		169552223	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.82|15.82	2.946868|2.946868	0.53186|0.53186	.|.	.|.	ENSG00000181381|ENSG00000181381	ENST00000514580|ENST00000260184;ENST00000511577;ENST00000505890	.|T;T;T	.|0.49139	.|0.79;0.79;0.79	3.16|3.16	2.27|2.27	0.28462|0.28462	.|Helicase, C-terminal (3);	.|0.581240	.|0.12157	.|U	.|0.494365	T|T	0.62829|0.62829	0.2460|0.2460	M|M	0.79614|0.79614	2.46|2.46	0.09310|0.09310	N|N	0.999999|0.999999	.|D;D	.|0.67145	.|0.996;0.994	.|P;P	.|0.59825	.|0.864;0.772	T|T	0.51348|0.51348	-0.8717|-0.8717	5|10	.|0.87932	.|D	.|0	.|.	9.7436|9.7436	0.40433|0.40433	0.0:0.8807:0.0:0.1193|0.0:0.8807:0.0:0.1193	.|.	.|1261;1260	.|D6R906;Q5H9U9	.|.;DDX6L_HUMAN	S|L	147|1260;1260;1261	.|ENSP00000260184:V1260L;ENSP00000422423:V1260L;ENSP00000422202:V1261L	.|ENSP00000260184:V1260L	C|V	-|-	2|1	0|0	DDX60L|DDX60L	169552223|169552223	0.940000|0.940000	0.31905|0.31905	0.033000|0.033000	0.17914|0.17914	0.171000|0.171000	0.22731|0.22731	2.660000|2.660000	0.46749|0.46749	1.453000|1.453000	0.47775|0.47775	0.467000|0.467000	0.42956|0.42956	TGT|GTT		0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		G	169315648	C	G	169315648	3	3	78	1	0	0	0	0	1	0	0	0	4379	478	17	3	1386	3	DDX60L	4	169315648	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	46154431	169315648	21838628	31	3900											
MEGF10	84466	genome.wustl.edu	37	5	126758360	126758360	+	Splice_Site	SNP	A	A	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr5:126758360A>T	ENST00000274473.6	+	14	1857		c.e14-1		MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site|MEGF10_ENST00000508365.1_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTTTCCATGCAGGATGGCACG	0.587																																																1	Unknown(1)	ovary(1)	5											43	40	41					5																	126758360		2203	4300	6503	126786259	SO:0001630	splice_region_variant	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1591-1A>T	5.37:g.126758360A>T			126786259	Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202746	0.79127	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5068	0.75748	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126786259	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	9.251000	0.95483	2.130000	0.65690	0.528000	0.53228	.		0.587	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	T	126758360	A	T	126758360	5	4	78	1	0	0	0	0	0	0	1	0	9460	202	7	5	1635	5	MEGF10	5	126758360	Splice_Site	SNP	A	TCGA-13-0755-01A-01W-0372-09		126758360	54156900	32	3901											
ANKHD1-EIF4EBP3	8637	genome.wustl.edu	37	5	139928548	139928548	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr5:139928548C>T	ENST00000310331.2	+	2	233	c.161C>T	c.(160-162)gCc>gTc	p.A54V	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.C2579C|SRA1_ENST00000520427.1_5'Flank|ANKHD1_ENST00000297183.6_Silent_p.C2579C	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3	54					negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)	p.A54V(1)|p.C2579C(1)		endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCCATTGCCCGGACACCC	0.592																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(2)	5											44	44	44					5																	139928548		2203	4300	6503	139908732	SO:0001583	missense	404734			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498	ENST00000310331.2:c.161C>T	5.37:g.139928548C>T	ENSP00000308472:p.Ala54Val		139908732		Missense_Mutation	SNP	ENST00000310331.2	37	CCDS4226.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538327	0.96460	.	.	ENSG00000243056	ENST00000310331	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.79896	0.4525	.	.	.	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.80665	-0.1281	7	0.56958	D	0.05	.	16.7164	0.85398	0.0:1.0:0.0:0.0	.	54	O60516	4EBP3_HUMAN	V	54	.	ENSP00000308472:A54V	A	+	2	0	EIF4EBP3	139908732	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.985000	0.76193	2.726000	0.93360	0.655000	0.94253	GCC		0.592	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	NM_003732		T	139928548	C	T	139928548	3	4	78	1	0	0	0	0	1	0	0	0	629	748	26	2	7875	2	ANKHD1-EIF4EBP3	5	139928548	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	13170188	139928548	40986712	33	3902											
YIPF5	81555	genome.wustl.edu	37	5	143540024	143540032	+	In_Frame_Del	DEL	TTGCTGTCC	TTGCTGTCC	-			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	TTGCTGTCC	TTGCTGTCC	TTGCTGTCC	-	TTGCTGTCC	TTGCTGTCC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr5:143540024_143540032delTTGCTGTCC	ENST00000274496.5	-	6	837_845	c.703_711delGGACAGCAA	c.(703-711)ggacagcaadel	p.GQQ235del	YIPF5_ENST00000448443.2_In_Frame_Del_p.GQQ235del|YIPF5_ENST00000513112.1_In_Frame_Del_p.GQQ181del	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	235					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)		p.G235_Q237del(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTACTAAAAGTTGCTGTCCTTCCATGGCT	0.402																																																1	Deletion - In frame(1)	ovary(1)	5																																								143520225	SO:0001651	inframe_deletion	81555			AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"Yip1 domain family"	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.703_711delGGACAGCAA	5.37:g.143540024_143540032delTTGCTGTCC	ENSP00000274496:p.Gly235_Gln237del		143520217	D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	In_Frame_Del	DEL	ENST00000274496.5	37	CCDS4279.1																																																																																				0.402	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799		-	143540032	TTGCTGTCC	-	143540024	7	5	78	1	0	1	0	1	0	0	0	0	17481	1722	60	0	66	0	YIPF5	5	143540024	In_Frame_Del	DEL	TTGCTGTCC	TCGA-13-0755-01A-01W-0372-09	3611476	143540024	37375236	34	3903											
GRPEL2	134266	genome.wustl.edu	37	5	148727896	148727896	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr5:148727896G>C	ENST00000329271.3	+	2	249	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	GRPEL2_ENST00000507562.1_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_Missense_Mutation_p.E47Q|GRPEL2_ENST00000513661.1_Missense_Mutation_p.E47Q	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	47					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)	p.E47Q(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCGTTCTGAGGACCCTCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	5											98	96	97					5																	148727896		2203	4300	6503	148708089	SO:0001583	missense	134266			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.139G>C	5.37:g.148727896G>C	ENSP00000329558:p.Glu47Gln		148708089	B4DFA6|Q49AJ6	Missense_Mutation	SNP	ENST00000329271.3	37	CCDS4295.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469967	0.84533	.	.	ENSG00000164284	ENST00000513661;ENST00000329271;ENST00000416916	.	.	.	5.77	4.72	0.59763	.	0.336639	0.27764	N	0.017959	T	0.63200	0.2491	L	0.34521	1.04	0.40373	D	0.979361	D;D	0.64830	0.989;0.994	P;P	0.61658	0.836;0.892	T	0.62699	-0.6799	9	0.41790	T	0.15	-2.4103	15.7046	0.77569	0.0762:0.0:0.9238:0.0	.	47;47	B4DFA6;Q8TAA5	.;GRPE2_HUMAN	Q	47	.	ENSP00000329558:E47Q	E	+	1	0	GRPEL2	148708089	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.092000	0.64511	2.732000	0.93576	0.561000	0.74099	GAG		0.512	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1	NM_152407		C	148727896	G	C	148727896	3	2	78	1	0	0	0	0	1	0	0	0	6807	1291	45	3	145	3	GRPEL2	5	148727896	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	5187872	148727896	32187364	35	3904											
KIF4B	285643	genome.wustl.edu	37	5	154394266	154394266	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr5:154394266G>T	ENST00000435029.4	+	1	1007	c.847G>T	c.(847-849)Ggt>Tgt	p.G283C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	283	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.G283C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACAAAAAGGGTAGCTTTGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											161	163	162					5																	154394266		2203	4300	6503	154374459	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.847G>T	5.37:g.154394266G>T	ENSP00000387875:p.Gly283Cys		154374459		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	8.918	0.960277	0.18507	.	.	ENSG00000226650	ENST00000435029	T	0.75154	-0.91	1.48	-0.668	0.11392	Kinesin, motor domain (3);	.	.	.	.	T	0.71005	0.3289	M	0.81179	2.53	0.44539	D	0.99749	B	0.15930	0.015	B	0.29077	0.098	T	0.61623	-0.7025	9	0.48119	T	0.1	.	4.1331	0.10158	0.1754:0.2427:0.5819:0.0	.	283	Q2VIQ3	KIF4B_HUMAN	C	283	ENSP00000387875:G283C	ENSP00000387875:G283C	G	+	1	0	KIF4B	154374459	0.999000	0.42202	0.924000	0.36721	0.988000	0.76386	1.551000	0.36233	-0.218000	0.10018	0.563000	0.77884	GGT		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154394266	G	T	154394266	3	4	78	1	0	0	0	0	1	0	0	0	8304	1232	43	3	849	3	KIF4B	5	154394266	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	5666370	154394266	26520994	36	3905											
HIST1H3A	8350	genome.wustl.edu	37	6	26020777	26020777	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr6:26020777G>T	ENST00000357647.3	+	1	60	c.60G>T	c.(58-60)caG>caT	p.Q20H	HIST1H1A_ENST00000244573.3_5'Flank|HIST1H4A_ENST00000359907.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	20					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.Q20H(1)		endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CACGCAAACAGTTGGCCACTA	0.632																																																1	Substitution - Missense(1)	ovary(1)	6											57	58	58					6																	26020777		2203	4300	6503	26128756	SO:0001583	missense	8350			Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"Histones / Replication-dependent"	4766	protein-coding gene	gene with protein product		602810	"H3 histone family, member A", "histone 1, H3a"	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.60G>T	6.37:g.26020777G>T	ENSP00000350275:p.Gln20His		26128756	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000357647.3	37	CCDS4570.1	.	.	.	.	.	.	.	.	.	.	g	7.439	0.640280	0.14386	.	.	ENSG00000198366	ENST00000357647	T	0.46451	0.87	3.64	2.77	0.32553	Histone-fold (2);	.	.	.	.	T	0.22666	0.0547	L	0.54863	1.705	0.38713	D	0.953273	B	0.02656	0.0	B	0.04013	0.001	T	0.20773	-1.0265	9	0.72032	D	0.01	.	10.8502	0.46765	0.0944:0.0:0.9056:0.0	.	20	P68431	H31_HUMAN	H	20	ENSP00000350275:Q20H	ENSP00000350275:Q20H	Q	+	3	2	HIST1H3A	26128756	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	4.605000	0.61119	1.118000	0.41863	0.650000	0.86243	CAG		0.632	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040080.1	NM_003529		T	26020777	G	T	26020777	3	4	78	1	0	0	0	0	1	0	0	0	7155	1020	36	3	62	3	HIST1H3A	6	26020777	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09		26020777	145094290	37	3906											
OR12D3	81797	genome.wustl.edu	37	6	29342736	29342736	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr6:29342736G>A	ENST00000396806.3	-	1	332	c.329C>T	c.(328-330)gCc>gTc	p.A110V	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A110V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CAGTAAAATGGCCTCTGTGCT	0.493																																																1	Substitution - Missense(1)	ovary(1)	6											55	58	57					6																	29342736		1511	2709	4220	29450715	SO:0001583	missense	81797				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.329C>T	6.37:g.29342736G>A	ENSP00000380023:p.Ala110Val		29450715	A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	G	2.373	-0.343880	0.05208	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.01379	4.96	4.18	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	N	0.25245	0.725	0.09310	N	1	B	0.24043	0.096	B	0.24974	0.057	T	0.42882	-0.9425	9	0.27082	T	0.32	-2.5023	3.3494	0.07147	0.0866:0.3678:0.2901:0.2556	.	110	Q9UGF7	O12D3_HUMAN	V	110	ENSP00000380023:A110V	ENSP00000366348:A110V	A	-	2	0	OR12D3	29450715	0.000000	0.05858	0.020000	0.16555	0.174000	0.22865	-0.650000	0.05378	0.332000	0.23536	0.195000	0.17529	GCC		0.493	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			A	29342736	G	A	29342736	3	1	78	1	0	0	0	0	1	0	0	0	10932	1203	42	2	625	2	OR12D3	6	29342736	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	3321959	29342736	141772331	38	3907											
NT5E	4907	genome.wustl.edu	37	6	86195099	86195099	+	Missense_Mutation	SNP	G	G	A	rs148199616		TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr6:86195099G>A	ENST00000257770.3	+	4	947	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	NT5E_ENST00000369651.3_Missense_Mutation_p.V300I	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	300					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.V300I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	AAGAGGAAACGTCATCTCTTC	0.438																																					Melanoma(140;797 1765 2035 2752 18208)											1	Substitution - Missense(1)	ovary(1)	6						G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	149	135	140		898,898	5.4	0.9	6	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NT5E	NM_001204813.1,NM_002526.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	300/525,300/575	86195099	1,13005	2203	4300	6503	86251818	SO:0001583	missense	4907			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.898G>A	6.37:g.86195099G>A	ENSP00000257770:p.Val300Ile		86251818	B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782322	0.90282	0.0	1.16E-4	ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369651	T;T	0.56776	0.44;0.45	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	L	0.53729	1.69	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.54060	0.741;0.691	T	0.53056	-0.8492	10	0.42905	T	0.14	-16.8414	19.0919	0.93229	0.0:0.0:1.0:0.0	.	300;300	B3KQI8;P21589	.;5NTD_HUMAN	I	76;300;300	ENSP00000257770:V300I;ENSP00000358665:V300I	ENSP00000257770:V300I	V	+	1	0	NT5E	86251818	1.000000	0.71417	0.945000	0.38365	0.848000	0.48234	9.307000	0.96226	2.496000	0.84212	0.462000	0.41574	GTC		0.438	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			A	86195099	G	A	86195099	3	1	78	1	0	0	0	0	1	0	0	0	10693	1145	40	1	912	1	NT5E	6	86195099	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	56852363	86195099	84919968	39	3908											
LPA	4018	genome.wustl.edu	37	6	161056238	161056238	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr6:161056238G>A	ENST00000316300.5	-	7	1036	c.992C>T	c.(991-993)aCg>aTg	p.T331M	LPA_ENST00000447678.1_Missense_Mutation_p.T331M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	2839	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.T331M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGAGCATTGCGTCAGGTTGCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	6											15	22	20					6																	161056238		1285	3178	4463	160976228	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.992C>T	6.37:g.161056238G>A	ENSP00000321334:p.Thr331Met		160976228	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	11.75	1.731506	0.30684	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62941	-0.01;-0.01	2.18	-4.21	0.03812	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.50888	0.1642	L	0.52206	1.635	0.09310	N	1	D	0.65815	0.995	D	0.74674	0.984	T	0.46884	-0.9159	9	0.66056	D	0.02	.	4.0039	0.09592	0.0:0.2444:0.1964:0.5591	.	2839	P08519	APOA_HUMAN	M	331	ENSP00000321334:T331M;ENSP00000395608:T331M	ENSP00000321334:T331M	T	-	2	0	LPA	160976228	0.000000	0.05858	0.291000	0.24904	0.025000	0.11179	-1.165000	0.03132	-1.022000	0.03346	0.184000	0.17185	ACG		0.562	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		A	161056238	G	A	161056238	3	1	78	1	0	0	0	0	1	0	0	0	8903	1145	40	1	5262	1	LPA	6	161056238	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	74861139	161056238	10058829	40	3909											
STK31	56164	genome.wustl.edu	37	7	23775221	23775221	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr7:23775221C>G	ENST00000355870.3	+	7	667	c.548C>G	c.(547-549)tCt>tGt	p.S183C	STK31_ENST00000354639.3_Missense_Mutation_p.S160C|STK31_ENST00000428484.1_Missense_Mutation_p.S160C|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.S183C	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	183						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.S183C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAGCAACCTCTGAAGATGGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	7											123	118	120					7																	23775221		2203	4300	6503	23741746	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.548C>G	7.37:g.23775221C>G	ENSP00000348132:p.Ser183Cys		23741746	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	c	14.50	2.554705	0.45487	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T;T	0.32023	1.5;1.47;1.5;1.5;1.5	5.25	1.49	0.22878	.	0.585203	0.17607	N	0.168240	T	0.14184	0.0343	N	0.08118	0	0.21325	N	0.999727	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.20338	-1.0278	10	0.36615	T	0.2	-0.9262	7.9993	0.30286	0.5139:0.4114:0.0747:0.0	.	183;183	B4DZ06;Q9BXU1	.;STK31_HUMAN	C	183;139;183;160;160	ENSP00000348132:S183C;ENSP00000414087:S139C;ENSP00000411852:S183C;ENSP00000346660:S160C;ENSP00000406146:S160C	ENSP00000346660:S160C	S	+	2	0	STK31	23741746	0.021000	0.18746	0.992000	0.48379	0.947000	0.59692	0.946000	0.29069	0.065000	0.16485	-0.499000	0.04595	TCT		0.403	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23775221	C	G	23775221	3	3	78	1	0	0	0	0	1	0	0	0	15298	913	32	3	574	3	STK31	7	23775221	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09		23775221	135363442	41	3910											
GRM3	2913	genome.wustl.edu	37	7	86468753	86468753	+	Silent	SNP	T	T	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr7:86468753T>C	ENST00000361669.2	+	4	3022	c.1923T>C	c.(1921-1923)tgT>tgC	p.C641C	GRM3_ENST00000546348.1_Silent_p.C233C|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.C513C|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	641					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.C641C(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CAGTCATCTGTGCATTGCGCC	0.522																																					GBM(52;969 1098 3139 52280)											1	Substitution - coding silent(1)	ovary(1)	7											230	189	203					7																	86468753		2203	4300	6503	86306689	SO:0001819	synonymous_variant	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1923T>C	7.37:g.86468753T>C			86306689	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	CCDS5600.1																																																																																				0.522	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			C	86468753	T	C	86468753	2	2	78	1	0	0	0	0	0	0	0	1	6798	1702	59	4		4	GRM3	7	86468753	Silent	SNP	T	TCGA-13-0755-01A-01W-0372-09	62693532	86468753	72669910	42	3911											
CTTNBP2	83992	genome.wustl.edu	37	7	117424414	117424414	+	Silent	SNP	T	T	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr7:117424414T>G	ENST00000160373.3	-	5	2254	c.2163A>C	c.(2161-2163)ggA>ggC	p.G721G		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	721					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.G721G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAGTGACATTTCCCTGGGCAG	0.507																																																1	Substitution - coding silent(1)	ovary(1)	7											101	110	107					7																	117424414		2203	4300	6503	117211650	SO:0001819	synonymous_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2163A>C	7.37:g.117424414T>G			117211650	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334327	0.24253	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	T	0.71771	0.3379	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71130	-0.4682	4	.	.	.	0.0128	15.8142	0.78586	0.0:0.0:0.0:1.0	.	.	.	.	Q	209	.	.	K	-	1	0	CTTNBP2	117211650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.716000	0.68437	2.184000	0.69523	0.533000	0.62120	AAA		0.507	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		G	117424414	T	G	117424414	2	3	78	1	0	0	0	0	0	0	0	1	4045	1770	62	5		5	CTTNBP2	7	117424414	Silent	SNP	T	TCGA-13-0755-01A-01W-0372-09	30955661	117424414	41714249	43	3912											
GRM8	2918	genome.wustl.edu	37	7	126883067	126883067	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr7:126883067A>C	ENST00000339582.2	-	2	1000	c.192T>G	c.(190-192)tgT>tgG	p.C64W	GRM8_ENST00000405249.1_Missense_Mutation_p.C64W|GRM8_ENST00000358373.3_Missense_Mutation_p.C64W|GRM8_ENST00000444921.2_Missense_Mutation_p.C64W			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	64					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)	p.C64W(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TCAGCTCCCCACAAGGCACCC	0.522										HNSCC(24;0.065)																																						1	Substitution - Missense(1)	ovary(1)	7											86	72	77					7																	126883067		2203	4300	6503	126670303	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.192T>G	7.37:g.126883067A>C	ENSP00000344173:p.Cys64Trp		126670303	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910182	0.52439	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	6.17	2.54	0.30619	.	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	D	0.87660	0.2534	10	0.87932	D	0	.	9.2563	0.37586	0.7967:0.0:0.2033:0.0	.	64;64	O00222-2;O00222	.;GRM8_HUMAN	W	64	ENSP00000344173:C64W;ENSP00000409790:C64W;ENSP00000351142:C64W;ENSP00000385731:C64W;ENSP00000415522:C64W	ENSP00000344173:C64W	C	-	3	2	GRM8	126670303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.791000	0.38744	0.204000	0.20548	0.533000	0.62120	TGT		0.522	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			C	126883067	A	C	126883067	3	2	78	1	0	0	0	0	1	0	0	0	6803	157	6	5	2624	5	GRM8	7	126883067	Missense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09	9458653	126883067	32255596	44	3913											
MLL3	58508	genome.wustl.edu	37	7	151962210	151962210	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr7:151962210T>G	ENST00000262189.6	-	8	1315	c.1097A>C	c.(1096-1098)tAt>tCt	p.Y366S	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y366S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	366					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y366S(1)									CATTCCATGATAGTGCTGACC	0.448																																																1	Substitution - Missense(1)	ovary(1)	7											397	355	370					7																	151962210		2203	4300	6503	151593143	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1097A>C	7.37:g.151962210T>G	ENSP00000262189:p.Tyr366Ser		151593143	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.981691	0.34942	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99070	-5.39;-5.39	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38111	U	0.001814	D	0.99248	0.9738	M	0.85542	2.76	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.99174	1.0865	10	0.87932	D	0	.	14.395	0.67005	0.0:0.0:0.0:1.0	.	366	Q8NEZ4	MLL3_HUMAN	S	366	ENSP00000262189:Y366S;ENSP00000347325:Y366S	ENSP00000262189:Y366S	Y	-	2	0	MLL3	151593143	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	7.997000	0.88414	1.843000	0.53566	0.455000	0.32223	TAT		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151962210	T	G	151962210	3	3	78	1	0	0	0	0	1	0	0	0	9622	1406	49	5	13846	5	MLL3	7	151962210	Missense_Mutation	SNP	T	TCGA-13-0755-01A-01W-0372-09	25079143	151962210	7176453	45	3914											
SLC20A2	6575	genome.wustl.edu	37	8	42329816	42329816	+	Silent	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr8:42329816G>A	ENST00000342228.3	-	2	462	c.93C>T	c.(91-93)aaC>aaT	p.N31N	SLC20A2_ENST00000520179.1_Silent_p.N31N|SLC20A2_ENST00000520262.1_Silent_p.N31N	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	31					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.N31N(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TACCAAAGGAGTTGGCAACAT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	8											134	119	124					8																	42329816		2203	4300	6503	42448973	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.93C>T	8.37:g.42329816G>A			42448973		Silent	SNP	ENST00000342228.3	37	CCDS6132.1																																																																																				0.473	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			A	42329816	G	A	42329816	2	1	78	1	0	0	0	0	0	0	0	1	14442	1020	36	2		2	SLC20A2	8	42329816	Silent	SNP	G	TCGA-13-0755-01A-01W-0372-09		42329816	104034206	46	3915											
ASAP1	50807	genome.wustl.edu	37	8	131073023	131073023	+	Silent	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr8:131073023C>G	ENST00000518721.1	-	28	3221	c.2994G>C	c.(2992-2994)ctG>ctC	p.L998L	ASAP1_ENST00000357668.1_Silent_p.L998L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	998					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.L998L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ATTTTGCTAGCAGGTCTCCCA	0.552																																																1	Substitution - coding silent(1)	ovary(1)	8											157	150	153					8																	131073023		2203	4300	6503	131142205	SO:0001819	synonymous_variant	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2994G>C	8.37:g.131073023C>G			131142205	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	8.074	0.770873	0.15983	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	T	0.70378	0.3217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68503	-0.5391	4	.	.	.	.	13.9666	0.64213	0.0:0.9253:0.0:0.0747	.	.	.	.	P	819;355	.	.	A	-	1	0	ASAP1	131142205	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.918000	0.28678	2.644000	0.89710	0.561000	0.74099	GCT		0.552	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		G	131073023	C	G	131073023	2	3	78	1	0	0	0	0	0	0	0	1	1010	697	25	3		3	ASAP1	8	131073023	Silent	SNP	C	TCGA-13-0755-01A-01W-0372-09	88743207	131073023	15290999	47	3916											
DOCK8	81704	genome.wustl.edu	37	9	372251	372251	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr9:372251A>T	ENST00000453981.1	+	18	2186	c.2074A>T	c.(2074-2076)Aaa>Taa	p.K692*	DOCK8_ENST00000382329.1_Nonsense_Mutation_p.K159*|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000432829.2_Nonsense_Mutation_p.K624*|DOCK8_ENST00000469391.1_Nonsense_Mutation_p.K624*			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	692	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K624*(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGCCTTGGAAAAATTGCCACC	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	9											126	114	118					9																	372251		2203	4300	6503	362251	SO:0001587	stop_gained	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2074A>T	9.37:g.372251A>T	ENSP00000408464:p.Lys692*		362251	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Nonsense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	43	10.161787	0.99350	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	.	.	.	5.63	5.63	0.86233	.	0.054605	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1339	0.81465	1.0:0.0:0.0:0.0	.	.	.	.	X	692;692;624;624;159	.	ENSP00000287364:K692X	K	+	1	0	DOCK8	362251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.223000	0.58587	2.271000	0.75665	0.533000	0.62120	AAA		0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		T	372251	A	T	372251	4	4	78	1	0	0	0	0	0	1	0	0	4693	15	1	5	2144	5	DOCK8	9	372251	Nonsense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09		372251	140841180	48	3917											
TOPORS	10210	genome.wustl.edu	37	9	32544141	32544141	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr9:32544141C>T	ENST00000360538.2	-	3	498	c.382G>A	c.(382-384)Gta>Ata	p.V128I	TOPORS_ENST00000379858.1_Missense_Mutation_p.V63I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	128	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V128I(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACTCCTGTACACAGCGAAAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	9											136	126	129					9																	32544141		2203	4300	6503	32534141	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.382G>A	9.37:g.32544141C>T	ENSP00000353735:p.Val128Ile		32534141	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440474	0.25900	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.60171	0.21;0.21	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.43260	D	0.000600	T	0.23572	0.0570	N	0.01618	-0.8	0.36245	D	0.853547	B	0.20550	0.046	B	0.20767	0.031	T	0.38243	-0.9670	10	0.02654	T	1	-10.3232	8.575	0.33592	0.0:0.8351:0.0:0.1649	.	128	Q9NS56	TOPRS_HUMAN	I	128;63	ENSP00000353735:V128I;ENSP00000369187:V63I	ENSP00000353735:V128I	V	-	1	0	TOPORS	32534141	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	2.972000	0.49256	2.656000	0.90262	0.655000	0.94253	GTA		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		T	32544141	C	T	32544141	3	4	78	1	0	0	0	0	1	0	0	0	16370	478	17	2	2759	2	TOPORS	9	32544141	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	32171890	32544141	108669290	49	3918											
CA9	768	genome.wustl.edu	37	9	35674151	35674151	+	Silent	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr9:35674151G>A	ENST00000378357.4	+	1	299	c.195G>A	c.(193-195)ctG>ctA	p.L65L	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	65	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.L65L(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	AGGAGGATCTGCCCAGTGAAG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	9											56	54	55					9																	35674151		2203	4300	6503	35664151	SO:0001819	synonymous_variant	768			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.195G>A	9.37:g.35674151G>A			35664151	Q5T4R1	Silent	SNP	ENST00000378357.4	37	CCDS6585.1																																																																																				0.592	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		A	35674151	G	A	35674151	2	1	78	1	0	0	0	0	0	0	0	1	2524	1306	46	2		2	CA9	9	35674151	Silent	SNP	G	TCGA-13-0755-01A-01W-0372-09	3130010	35674151	105539280	50	3919											
MELK	9833	genome.wustl.edu	37	9	36651858	36651858	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr9:36651858C>T	ENST00000298048.2	+	12	1221	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	MELK_ENST00000536860.1_Missense_Mutation_p.P298L|MELK_ENST00000545008.1_Missense_Mutation_p.P275L|MELK_ENST00000538311.1_Missense_Mutation_p.P152L|MELK_ENST00000536987.1_Missense_Mutation_p.P215L|MELK_ENST00000541717.1_Missense_Mutation_p.P346L|MELK_ENST00000536329.1_Missense_Mutation_p.P275L|MELK_ENST00000543751.1_Missense_Mutation_p.P314L	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	346	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.P346L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AGTGCTACCCCATTCACAGAC	0.502																																					Ovarian(82;980 1317 7225 14391 18624)											1	Substitution - Missense(1)	ovary(1)	9											207	190	196					9																	36651858		2203	4300	6503	36641858	SO:0001583	missense	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1037C>T	9.37:g.36651858C>T	ENSP00000298048:p.Pro346Leu		36641858	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367827	0.61513	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.70631	-0.31;0.66;0.46;0.99;0.36;-0.5;-0.28;-0.32	5.63	5.63	0.86233	.	0.319446	0.35349	N	0.003267	T	0.68559	0.3014	L	0.59436	1.845	0.23598	N	0.997321	B;B;B;B;B;B;B	0.16802	0.011;0.006;0.001;0.0;0.019;0.005;0.0	B;B;B;B;B;B;B	0.17979	0.016;0.01;0.005;0.003;0.02;0.012;0.001	T	0.62992	-0.6736	10	0.66056	D	0.02	-6.1185	15.2097	0.73209	0.0:1.0:0.0:0.0	.	266;275;298;346;275;314;346	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	L	346;152;215;275;298;275;346;314	ENSP00000298048:P346L;ENSP00000438226:P152L;ENSP00000439184:P215L;ENSP00000445452:P275L;ENSP00000439792:P298L;ENSP00000443550:P275L;ENSP00000437804:P346L;ENSP00000441596:P314L	ENSP00000298048:P346L	P	+	2	0	MELK	36641858	0.005000	0.15991	0.090000	0.20809	0.722000	0.41435	1.265000	0.33027	2.652000	0.90054	0.655000	0.94253	CCA		0.502	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		T	36651858	C	T	36651858	3	4	78	1	0	0	0	0	1	0	0	0	9470	594	21	2	1079	2	MELK	9	36651858	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	977707	36651858	104561573	51	3920											
FAM75A3	727830	genome.wustl.edu	37	9	40704394	40704394	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr9:40704394G>A	ENST00000356699.5	+	4	2080	c.2051G>A	c.(2050-2052)aGg>aAg	p.R684K	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	684					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R684K(1)									AATCTATCCAGGGATATGAAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	9											1	1	1					9																	40704394		55	104	159	40694394	SO:0001583	missense	727830					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.2051G>A	9.37:g.40704394G>A	ENSP00000349132:p.Arg684Lys		40694394		Missense_Mutation	SNP	ENST00000356699.5	37	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085028	0.36758	.	.	ENSG00000147926	ENST00000356699	T	0.07800	3.16	2.23	-1.47	0.08772	.	0.528659	0.17535	N	0.170753	T	0.07413	0.0187	L	0.43152	1.355	0.09310	N	1	D	0.62365	0.991	P	0.50405	0.64	T	0.27773	-1.0064	10	0.13853	T	0.58	-8.316	2.2205	0.03971	0.3542:0.0:0.4046:0.2412	.	684	Q5VYP0	F75A3_HUMAN	K	684	ENSP00000349132:R684K	ENSP00000349132:R684K	R	+	2	0	FAM75A3	40694394	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.077000	0.14738	-0.346000	0.08312	0.398000	0.26397	AGG		0.522	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		A	40704394	G	A	40704394	3	1	78	1	0	0	0	0	1	0	0	0	5621	1000	35	2	2065	2	FAM75A3	9	40704394	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	4052536	40704394	100509037	52	3921											
GFRA1	2674	genome.wustl.edu	37	10	117884825	117884825	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr10:117884825C>A	ENST00000355422.6	-	6	1227	c.677G>T	c.(676-678)cGa>cTa	p.R226L	GFRA1_ENST00000439649.3_Missense_Mutation_p.R221L|GFRA1_ENST00000369236.1_Missense_Mutation_p.R221L|GFRA1_ENST00000544592.1_Missense_Mutation_p.R105L	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	226					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)	p.R221L(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GATGGTCTGTCGCCTCCGCTC	0.562																																					Ovarian(128;329 1725 45498 46808 50759)											1	Substitution - Missense(1)	ovary(1)	10											80	68	72					10																	117884825		2203	4300	6503	117874815	SO:0001583	missense	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.677G>T	10.37:g.117884825C>A	ENSP00000347591:p.Arg226Leu		117874815	A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	35	5.517755	0.96416	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.65364	-0.15;-0.15	5.75	5.75	0.90469	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70227	0.968;0.927	D	0.85626	0.1267	10	0.87932	D	0	-15.5798	19.9522	0.97203	0.0:1.0:0.0:0.0	.	226;221	P56159;P56159-2	GFRA1_HUMAN;.	L	226;221;221;105;221	ENSP00000358239:R221L;ENSP00000442179:R105L	ENSP00000347591:R221L	R	-	2	0	GFRA1	117874815	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	CGA		0.562	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		A	117884825	C	A	117884825	3	1	78	1	0	0	0	0	1	0	0	0	6347	884	31	3	744	3	GFRA1	10	117884825	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09		117884825	17649922	53	3922											
TACC2	10579	genome.wustl.edu	37	10	123847278	123847278	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr10:123847278G>T	ENST00000369005.1	+	4	5603	c.5263G>T	c.(5263-5265)Gct>Tct	p.A1755S	TACC2_ENST00000334433.3_Missense_Mutation_p.A1755S|TACC2_ENST00000515273.1_Missense_Mutation_p.A1755S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A1755S|TACC2_ENST00000515603.1_Missense_Mutation_p.A1755S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1755					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.A1755S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCTGACAAGGCTCCGGGGAT	0.637																																																1	Substitution - Missense(1)	ovary(1)	10											33	30	31					10																	123847278		2203	4300	6503	123837268	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5263G>T	10.37:g.123847278G>T	ENSP00000358001:p.Ala1755Ser		123837268	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168468	0.38315	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.04862	3.88;3.54;3.83;3.88;3.54	5.65	-0.699	0.11277	.	0.497156	0.15141	N	0.278308	T	0.03305	0.0096	L	0.27053	0.805	0.09310	N	1	P;P;P	0.40731	0.728;0.728;0.728	B;B;B	0.35114	0.196;0.196;0.196	T	0.44832	-0.9302	10	0.22109	T	0.4	0.644	4.9689	0.14105	0.3934:0.2702:0.3365:0.0	.	1755;1755;1755	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	S	1755;1755;1755;1755;1755;1745	ENSP00000358001:A1755S;ENSP00000424467:A1755S;ENSP00000427618:A1755S;ENSP00000334280:A1755S;ENSP00000395048:A1755S	ENSP00000334280:A1755S	A	+	1	0	TACC2	123837268	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.149000	0.10204	-0.169000	0.10834	0.643000	0.83706	GCT		0.637	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123847278	G	T	123847278	3	4	78	1	0	0	0	0	1	0	0	0	15502	1203	42	3	5273	3	TACC2	10	123847278	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	5962453	123847278	11687469	54	3923											
FEN1	2237	genome.wustl.edu	37	11	61563786	61563786	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr11:61563786A>T	ENST00000305885.2	+	2	1366	c.953A>T	c.(952-954)gAg>gTg	p.E318V	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1									p.E318V(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGTTCTCTGAGGAGCGAATC	0.557								Editing and processing nucleases																																								1	Substitution - Missense(1)	ovary(1)	11											46	47	46					11																	61563786		2202	4299	6501	61320362	SO:0001583	missense	2237			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"maturation factor-1", "DNase IV"	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.953A>T	11.37:g.61563786A>T	ENSP00000305480:p.Glu318Val		61320362		Missense_Mutation	SNP	ENST00000305885.2	37	CCDS8010.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367127	0.61513	.	.	ENSG00000168496	ENST00000305885	T	0.32753	1.44	5.44	5.44	0.79542	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.85859	2.78	0.80722	D	1	D	0.69078	0.997	P	0.61328	0.887	T	0.65759	-0.6090	10	0.87932	D	0	-7.4816	15.828	0.78730	1.0:0.0:0.0:0.0	.	318	P39748	FEN1_HUMAN	V	318	ENSP00000305480:E318V	ENSP00000305480:E318V	E	+	2	0	FEN1	61320362	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.441000	0.90313	2.200000	0.70718	0.459000	0.35465	GAG		0.557	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		T	61563786	A	T	61563786	3	4	78	1	0	0	0	0	1	0	0	0	5812	304	11	5	955	5	FEN1	11	61563786	Missense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09		61563786	73442730	55	3924											
GANAB	23193	genome.wustl.edu	37	11	62407101	62407101	+	Silent	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr11:62407101G>A	ENST00000356638.3	-	2	157	c.141C>T	c.(139-141)tgC>tgT	p.C47C	GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_5'UTR|GANAB_ENST00000346178.4_Silent_p.C47C|GANAB_ENST00000534779.1_Intron	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	47					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.C47C(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TATCATACTTGCAGAAAGAAC	0.483																																					Melanoma(23;1005 1074 15747 18937)											1	Substitution - coding silent(1)	ovary(1)	11											78	76	77					11																	62407101		2202	4299	6501	62163677	SO:0001819	synonymous_variant	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.141C>T	11.37:g.62407101G>A			62163677	A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	CCDS8026.1																																																																																				0.483	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		A	62407101	G	A	62407101	2	1	78	1	0	0	0	0	0	0	0	1	6233	1311	46	2		2	GANAB	11	62407101	Silent	SNP	G	TCGA-13-0755-01A-01W-0372-09	843315	62407101	72599415	56	3925											
PIH1D2	120379	genome.wustl.edu	37	11	111938623	111938623	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr11:111938623G>A	ENST00000280350.4	-	6	1142	c.920C>T	c.(919-921)aCg>aTg	p.T307M	PIH1D2_ENST00000532211.1_Missense_Mutation_p.T307M|PIH1D2_ENST00000431456.1_Intron|PIH1D2_ENST00000528775.1_Intron	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	307								p.T307M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GATGATTAGCGTGGATTTTTC	0.333																																																1	Substitution - Missense(1)	ovary(1)	11											171	161	164					11																	111938623		2201	4296	6497	111443833	SO:0001583	missense	120379			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.920C>T	11.37:g.111938623G>A	ENSP00000280350:p.Thr307Met		111443833	B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131581	0.37630	.	.	ENSG00000150773	ENST00000532211;ENST00000280350	T;T	0.18657	2.2;2.2	5.39	3.47	0.39725	.	0.718910	0.14081	N	0.342694	T	0.16981	0.0408	.	.	.	0.20764	N	0.99986	D	0.55800	0.973	P	0.46362	0.514	T	0.09228	-1.0684	9	0.27785	T	0.31	-4.2418	4.2396	0.10642	0.2718:0.172:0.5562:0.0	.	307	Q8WWB5	PIHD2_HUMAN	M	307	ENSP00000431841:T307M;ENSP00000280350:T307M	ENSP00000280350:T307M	T	-	2	0	PIH1D2	111443833	0.002000	0.14202	0.927000	0.36925	0.458000	0.32498	0.341000	0.19909	0.793000	0.33875	0.471000	0.43371	ACG		0.333	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		A	111938623	G	A	111938623	3	1	78	1	0	0	0	0	1	0	0	0	11907	1145	40	1	89	1	PIH1D2	11	111938623	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	49531522	111938623	23067893	57	3926											
ROBO4	54538	genome.wustl.edu	37	11	124763776	124763776	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr11:124763776G>T	ENST00000306534.3	-	9	1969	c.1484C>A	c.(1483-1485)gCt>gAt	p.A495D	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.A350D	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	495					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A495D(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTGCACCCTAGCTCGGCGCCG	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											19	23	22					11																	124763776		2200	4297	6497	124268986	SO:0001583	missense	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1484C>A	11.37:g.124763776G>T	ENSP00000304945:p.Ala495Asp		124268986	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391812	0.62066	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64260	-0.09;0.27	5.31	4.34	0.51931	.	0.000000	0.37219	N	0.002184	T	0.65606	0.2707	M	0.63428	1.95	0.09310	N	1	P;D;P	0.53151	0.571;0.958;0.915	B;P;B	0.51229	0.395;0.663;0.374	T	0.59867	-0.7373	10	0.42905	T	0.14	.	11.1115	0.48235	0.0:0.1866:0.8134:0.0	.	495;385;495	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	D	495;385;350	ENSP00000304945:A495D;ENSP00000437129:A350D	ENSP00000304945:A495D	A	-	2	0	ROBO4	124268986	0.030000	0.19436	0.257000	0.24404	0.949000	0.60115	2.179000	0.42528	2.481000	0.83766	0.655000	0.94253	GCT		0.632	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		T	124763776	G	T	124763776	3	4	78	1	0	0	0	0	1	0	0	0	13519	971	34	3	1579	3	ROBO4	11	124763776	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	12825153	124763776	10242740	58	3927											
FBXL14	144699	genome.wustl.edu	37	12	1702231	1702231	+	Silent	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr12:1702231C>T	ENST00000339235.3	-	1	1100	c.1002G>A	c.(1000-1002)acG>acA	p.T334T	FBXL14_ENST00000543278.1_5'Flank|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	334					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.T334T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CAATGTTGAGCGTGCGCAGCC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	12											121	100	107					12																	1702231		2203	4300	6503	1572492	SO:0001819	synonymous_variant	144699			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1002G>A	12.37:g.1702231C>T			1572492		Silent	SNP	ENST00000339235.3	37	CCDS8509.1																																																																																				0.617	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		T	1702231	C	T	1702231	2	4	78	1	0	0	0	0	0	0	0	1	5710	755	27	1		1	FBXL14	12	1702231	Silent	SNP	C	TCGA-13-0755-01A-01W-0372-09		1702231	132149664	59	3928											
ARID2	196528	genome.wustl.edu	37	12	46245402	46245402	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr12:46245402G>C	ENST00000334344.6	+	15	3668	c.3496G>C	c.(3496-3498)Ggg>Cgg	p.G1166R	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.G776R|ARID2_ENST00000422737.1_Missense_Mutation_p.G1017R|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1166					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1166R(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATTTTCCAAGGGACTTCTGG	0.483			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	ovary(1)	12											94	92	93					12																	46245402		2203	4300	6503	44531669	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3496G>C	12.37:g.46245402G>C	ENSP00000335044:p.Gly1166Arg		44531669	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036907	0.54896	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.39997	1.05	6.04	6.04	0.98038	.	0.092960	0.85682	D	0.000000	T	0.45054	0.1323	L	0.27053	0.805	0.80722	D	1	P;D;P	0.56521	0.865;0.976;0.787	B;P;B	0.50049	0.391;0.629;0.219	T	0.38308	-0.9667	10	0.66056	D	0.02	-5.9648	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1166;776;1166	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	R	1166;283;283;1017;776	ENSP00000335044:G1166R	ENSP00000335044:G1166R	G	+	1	0	ARID2	44531669	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.290000	0.78711	2.873000	0.98535	0.563000	0.77884	GGG		0.483	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		C	46245402	G	C	46245402	3	2	78	1	0	0	0	0	1	0	0	0	915	1000	35	3	3554	3	ARID2	12	46245402	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	44543171	46245402	87606493	60	3929											
RDH5	5959	genome.wustl.edu	37	12	56117746	56117746	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr12:56117746G>A	ENST00000257895.5	+	4	798	c.646G>A	c.(646-648)Gag>Aag	p.E216K	RDH5_ENST00000548082.1_Missense_Mutation_p.E216K|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Missense_Mutation_p.E119K	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	216					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.E216K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	GACCAACCTGGAGAGTCTGGA	0.607																																																1	Substitution - Missense(1)	ovary(1)	12											57	55	55					12																	56117746		2203	4300	6503	54404013	SO:0001583	missense	5959			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	9940	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 5"	601617	"retinol dehydrogenase 5 (11-cis and 9-cis)"	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.646G>A	12.37:g.56117746G>A	ENSP00000257895:p.Glu216Lys		54404013	O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288185	0.23478	.	.	ENSG00000135437	ENST00000547072;ENST00000257895;ENST00000548082	D;D;D	0.92965	-3.14;-3.14;-3.14	5.05	2.05	0.26809	NAD(P)-binding domain (1);	0.455814	0.25729	N	0.028689	D	0.87712	0.6246	M	0.64080	1.96	0.37796	D	0.927546	B	0.06786	0.001	B	0.09377	0.004	T	0.81095	-0.1088	10	0.30078	T	0.28	.	6.5752	0.22562	0.1713:0.1491:0.6796:0.0	.	216	Q92781	RDH1_HUMAN	K	119;216;216	ENSP00000449927:E119K;ENSP00000257895:E216K;ENSP00000447128:E216K	ENSP00000257895:E216K	E	+	1	0	RDH5	54404013	0.894000	0.30519	0.983000	0.44433	0.531000	0.34715	3.088000	0.50175	0.669000	0.31146	0.462000	0.41574	GAG		0.607	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		A	56117746	G	A	56117746	3	1	78	1	0	0	0	0	1	0	0	0	13198	1175	41	2	656	2	RDH5	12	56117746	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	9872344	56117746	77734149	61	3930											
ATP5B	506	genome.wustl.edu	37	12	57038968	57038968	+	Silent	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr12:57038968C>G	ENST00000262030.3	-	2	347	c.297G>C	c.(295-297)gtG>gtC	p.V99V	SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Silent_p.V99V	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	99					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.V99V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGCTGGGCCACCTCCAAAA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	12											87	90	89					12																	57038968		2203	4300	6503	55325235	SO:0001819	synonymous_variant	506			M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.297G>C	12.37:g.57038968C>G			55325235	A8K4X0|Q14283	Silent	SNP	ENST00000262030.3	37	CCDS8924.1																																																																																				0.473	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		G	57038968	C	G	57038968	2	3	78	1	0	0	0	0	0	0	0	1	1148	581	21	3		3	ATP5B	12	57038968	Silent	SNP	C	TCGA-13-0755-01A-01W-0372-09	921222	57038968	76812927	62	3931											
ATP2A2	488	genome.wustl.edu	37	12	110720597	110720597	+	Silent	SNP	T	T	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr12:110720597T>C	ENST00000539276.2	+	3	325	c.216T>C	c.(214-216)tcT>tcC	p.S72S	ATP2A2_ENST00000395494.2_Silent_p.S72S|ATP2A2_ENST00000308664.6_Silent_p.S72S|ATP2A2_ENST00000552636.1_5'UTR			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	72					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.S72S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CATGTATATCTTTTGTAAGTA	0.323																																																1	Substitution - coding silent(1)	ovary(1)	12											66	65	66					12																	110720597		2203	4300	6503	109204980	SO:0001819	synonymous_variant	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.216T>C	12.37:g.110720597T>C			109204980	A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	CCDS9144.1																																																																																				0.323	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		C	110720597	T	C	110720597	2	2	78	1	0	0	0	0	0	0	0	1	1137	1596	56	4		4	ATP2A2	12	110720597	Silent	SNP	T	TCGA-13-0755-01A-01W-0372-09	53681629	110720597	23131298	63	3932											
SFRS8	6433	genome.wustl.edu	37	12	132283985	132283985	+	Silent	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr12:132283985C>T	ENST00000261674.4	+	18	2949	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_Silent_p.V988V|RNA5SP378_ENST00000363646.1_RNA	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	936	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.V936V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TGGCCAAAGTCAGAGCGATGC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	12											64	56	59					12																	132283985		2203	4300	6503	130849938	SO:0001819	synonymous_variant	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2808C>T	12.37:g.132283985C>T			130849938	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	CCDS9273.1																																																																																				0.592	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		T	132283985	C	T	132283985	2	4	78	1	0	0	0	0	0	0	0	1	14186	813	29	2		2	SFRS8	12	132283985	Silent	SNP	C	TCGA-13-0755-01A-01W-0372-09	21563388	132283985	1567910	64	3933											
THSD1	55901	genome.wustl.edu	37	13	52972015	52972015	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr13:52972015C>A	ENST00000258613.4	-	3	551	c.373G>T	c.(373-375)Gtg>Ttg	p.V125L	THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.V125L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	125			V -> G (in dbSNP:rs13313279).		hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.V125L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGCCATTCCACCTTCAGAAAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	13											141	129	133					13																	52972015		2203	4300	6503	51870016	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.373G>T	13.37:g.52972015C>A	ENSP00000258613:p.Val125Leu		51870016	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121067	0.56613	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.26067	1.76;1.76	5.39	4.54	0.55810	.	0.068770	0.56097	D	0.000022	T	0.33177	0.0854	M	0.74881	2.28	0.80722	D	1	B;B	0.20052	0.005;0.041	B;B	0.19391	0.016;0.025	T	0.17289	-1.0374	10	0.62326	D	0.03	-11.3844	15.3501	0.74376	0.0:0.8603:0.1397:0.0	.	125;125	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	L	125	ENSP00000340650:V125L;ENSP00000258613:V125L	ENSP00000258613:V125L	V	-	1	0	THSD1	51870016	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.881000	0.63114	1.257000	0.44085	0.561000	0.74099	GTG		0.507	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			A	52972015	C	A	52972015	3	1	78	1	0	0	0	0	1	0	0	0	15877	507	18	3	2197	3	THSD1	13	52972015	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09		52972015	62197863	65	3934											
ATP5S	27109	genome.wustl.edu	37	14	50792435	50792435	+	Silent	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr14:50792435G>A	ENST00000311459.7	+	5	1022	c.642G>A	c.(640-642)ttG>ttA	p.L214L	ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000358473.1_Intron|ATP5S_ENST00000245448.6_3'UTR|RP11-247L20.4_ENST00000555403.1_lincRNA	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	214					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)	p.L214L(1)		breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		AATTACAATTGAAGTAAAATA	0.299																																																1	Substitution - coding silent(1)	ovary(1)	14											78	85	83					14																	50792435		2203	4299	6502	49862185	SO:0001819	synonymous_variant	27109			U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.642G>A	14.37:g.50792435G>A			49862185	A8K1U3|D9N156|Q8WWX3|Q96F77	Silent	SNP	ENST00000311459.7	37	CCDS32075.1																																																																																				0.299	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1	NM_015684		A	50792435	G	A	50792435	2	1	78	1	0	0	0	0	0	0	0	1	1163	1281	45	2		2	ATP5S	14	50792435	Silent	SNP	G	TCGA-13-0755-01A-01W-0372-09		50792435	56557105	66	3935											
SPTB	6710	genome.wustl.edu	37	14	65239323	65239323	+	Missense_Mutation	SNP	C	C	T	rs534004149	byFrequency	TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr14:65239323C>T	ENST00000389721.5	-	25	5560	c.5528G>A	c.(5527-5529)cGg>cAg	p.R1843Q	SPTB_ENST00000389720.3_Missense_Mutation_p.R1843Q|SPTB_ENST00000556626.1_Missense_Mutation_p.R1843Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1843Q|SPTB_ENST00000389722.3_Missense_Mutation_p.R1843Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1843					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R1843Q(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGGAGCTCCCGCTCGAAGGC	0.677													C|||	6	0.00119808	0	0.0086	5008	,	,		16339	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	14											31	32	32					14																	65239323		2203	4300	6503	64309076	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5528G>A	14.37:g.65239323C>T	ENSP00000374371:p.Arg1843Gln		64309076	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899305	0.33535	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.0	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.31476	0.935	0.50632	D	0.999889	B;B;B	0.25772	0.134;0.005;0.023	B;B;B	0.23852	0.049;0.007;0.004	T	0.06844	-1.0804	10	0.14252	T	0.57	.	8.936	0.35700	0.0:0.8264:0.0:0.1736	.	627;1843;1847	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	1847;1843;627;508;1843;1843;1843;1843	ENSP00000374372:R1843Q;ENSP00000451324:R508Q;ENSP00000451752:R1843Q;ENSP00000374371:R1843Q;ENSP00000443882:R1843Q;ENSP00000374370:R1843Q	ENSP00000334218:R627Q	R	-	2	0	SPTB	64309076	0.002000	0.14202	1.000000	0.80357	0.983000	0.72400	0.177000	0.16801	1.241000	0.43820	0.561000	0.74099	CGG		0.677	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65239323	C	T	65239323	3	4	78	1	0	0	0	0	1	0	0	0	15120	652	23	1	1571	1	SPTB	14	65239323	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	14446888	65239323	42110217	67	3936											
C15orf57	90416	genome.wustl.edu	37	15	40855010	40855010	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr15:40855010C>G	ENST00000358005.3	-	2	478	c.205G>C	c.(205-207)Gct>Cct	p.A69P	C15orf57_ENST00000416810.2_Missense_Mutation_p.A69P|C15orf57_ENST00000561011.1_Missense_Mutation_p.A69P|C15orf57_ENST00000559911.1_Missense_Mutation_p.A69P|C15orf57_ENST00000560305.1_Missense_Mutation_p.A69P|C15orf57_ENST00000558871.1_Missense_Mutation_p.A69P|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000558750.1_Missense_Mutation_p.A78P|C15orf57_ENST00000558113.1_Missense_Mutation_p.A69P	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	69								p.A69P(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TGCAAGGGAGCCCAAGGCTTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	15											141	144	143					15																	40855010		2203	4300	6503	38642302	SO:0001583	missense	90416			BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"coiled-coil domain containing 32"	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.205G>C	15.37:g.40855010C>G	ENSP00000350695:p.Ala69Pro		38642302	A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	ENST00000358005.3	37	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023560	0.75390	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.48836	0.8	4.75	4.75	0.60458	.	0.364915	0.28946	N	0.013628	T	0.64360	0.2591	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.976;0.976;0.976	T	0.63233	-0.6683	10	0.39692	T	0.17	-9.0374	18.1225	0.89576	0.0:1.0:0.0:0.0	.	69;78;69	Q9BV29;Q9BV29-2;Q9BV29-3	CO057_HUMAN;.;.	P	69;78	ENSP00000350695:A69P	ENSP00000350695:A69P	A	-	1	0	C15orf57	38642302	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	4.416000	0.59815	2.322000	0.78497	0.555000	0.69702	GCT		0.473	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		G	40855010	C	G	40855010	3	3	78	1	0	0	0	0	1	0	0	0	1805	739	26	3	364	3	C15orf57	15	40855010	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09		40855010	61676382	68	3937											
MYO5C	55930	genome.wustl.edu	37	15	52571808	52571808	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr15:52571808C>T	ENST00000261839.7	-	3	363	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR|MIR1266_ENST00000408125.1_RNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	68	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G68S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCATTCTCGCCCACGAGGATG	0.473																																																1	Substitution - Missense(1)	ovary(1)	15											64	63	63					15																	52571808		1901	4125	6026	50359100	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.202G>A	15.37:g.52571808C>T	ENSP00000261839:p.Gly68Ser		50359100	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	35	5.550233	0.96501	.	.	ENSG00000128833	ENST00000261839;ENST00000541028	D	0.95656	-3.77	5.88	5.88	0.94601	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	M	0.88105	2.93	0.80722	D	1	D;P	0.57257	0.979;0.853	D;P	0.71656	0.974;0.573	D	0.98290	1.0513	10	0.66056	D	0.02	.	20.2366	0.98359	0.0:1.0:0.0:0.0	.	31;68	F5H231;Q9NQX4	.;MYO5C_HUMAN	S	68;31	ENSP00000261839:G68S	ENSP00000261839:G68S	G	-	1	0	MYO5C	50359100	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.792000	0.96026	0.557000	0.71058	GGC		0.473	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		T	52571808	C	T	52571808	3	4	78	1	0	0	0	0	1	0	0	0	10080	623	22	2	5182	2	MYO5C	15	52571808	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	11716798	52571808	49959584	69	3938											
ANXA2	302	genome.wustl.edu	37	15	60649426	60649426	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr15:60649426T>G	ENST00000396024.3	-	7	526	c.367A>C	c.(367-369)Acc>Ccc	p.T123P	ANXA2_ENST00000451270.2_Missense_Mutation_p.T123P|ANXA2_ENST00000332680.4_Missense_Mutation_p.T141P|ANXA2_ENST00000421017.2_Missense_Mutation_p.T123P	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	123					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.T141P(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	TCCTCGTCGGTTCCCAGCCCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	15											87	77	80					15																	60649426		2203	4300	6503	58436718	SO:0001583	missense	302			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.367A>C	15.37:g.60649426T>G	ENSP00000379342:p.Thr123Pro		58436718	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	T	33	5.264102	0.95399	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270;ENST00000504475	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	5.34	5.34	0.76211	Annexin repeat, conserved site (1);	0.000000	0.85682	U	0.000000	T	0.35595	0.0937	H	0.94808	3.585	0.80722	D	1	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.91635	0.944;0.997;0.999	T	0.50583	-0.8811	10	0.87932	D	0	.	14.3105	0.66413	0.0:0.0:0.0:1.0	.	123;141;123	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	P	123;141;123;123;6	ENSP00000379342:T123P;ENSP00000346032:T141P;ENSP00000411352:T123P;ENSP00000387545:T123P	ENSP00000346032:T141P	T	-	1	0	ANXA2	58436718	1.000000	0.71417	0.761000	0.31378	0.496000	0.33645	7.373000	0.79623	2.038000	0.60285	0.379000	0.24179	ACC		0.478	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		G	60649426	T	G	60649426	3	3	78	1	0	0	0	0	1	0	0	0	718	1725	60	5	684	5	ANXA2	15	60649426	Missense_Mutation	SNP	T	TCGA-13-0755-01A-01W-0372-09	8077618	60649426	41881966	70	3939											
HERC1	8925	genome.wustl.edu	37	15	63964733	63964733	+	Silent	SNP	T	T	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr15:63964733T>G	ENST00000443617.2	-	39	8094	c.8007A>C	c.(8005-8007)gcA>gcC	p.A2669A	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2669					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A2669A(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGGACTCGGATGCAGGCACTG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	15											69	73	72					15																	63964733		2063	4204	6267	61751786	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8007A>C	15.37:g.63964733T>G			61751786	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.522	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		G	63964733	T	G	63964733	2	3	78	1	0	0	0	0	0	0	0	1	7057	1451	51	5		5	HERC1	15	63964733	Silent	SNP	T	TCGA-13-0755-01A-01W-0372-09	3315307	63964733	38566659	71	3940											
WDR61	80349	genome.wustl.edu	37	15	78581979	78581979	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr15:78581979G>A	ENST00000267973.2	-	7	815	c.544C>T	c.(544-546)Ctt>Ttt	p.L182F	WDR61_ENST00000558459.1_Missense_Mutation_p.L89F|WDR61_ENST00000558311.1_Missense_Mutation_p.L182F			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	182					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.L182F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTATGCAGAAGTTTTCCAGTT	0.348																																																1	Substitution - Missense(1)	ovary(1)	15											79	76	77					15																	78581979		2196	4293	6489	76369034	SO:0001583	missense	80349				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"WD repeat domain containing"	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.544C>T	15.37:g.78581979G>A	ENSP00000267973:p.Leu182Phe		76369034	D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706980	0.89018	.	.	ENSG00000140395	ENST00000267973	T	0.61392	0.11	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056292	0.64402	D	0.000001	T	0.74794	0.3763	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.69091	-0.5237	10	0.10902	T	0.67	-8.0166	18.891	0.92403	0.0:0.0:1.0:0.0	.	182	Q9GZS3	WDR61_HUMAN	F	182	ENSP00000267973:L182F	ENSP00000267973:L182F	L	-	1	0	WDR61	76369034	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	9.631000	0.98424	2.720000	0.93068	0.591000	0.81541	CTT		0.348	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234		A	78581979	G	A	78581979	3	1	78	1	0	0	0	0	1	0	0	0	17312	1029	36	2	393	2	WDR61	15	78581979	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	14617246	78581979	23949413	72	3941											
ABCA3	21	genome.wustl.edu	37	16	2329009	2329009	+	Silent	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr16:2329009G>A	ENST00000301732.5	-	29	5182	c.4482C>T	c.(4480-4482)tgC>tgT	p.C1494C	ABCA3_ENST00000382381.3_Silent_p.C1436C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1494	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.C1494C(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGTTCTCCACGCAGGCCCCGA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	16											66	68	67					16																	2329009		2198	4300	6498	2269010	SO:0001819	synonymous_variant	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4482C>T	16.37:g.2329009G>A			2269010	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																				0.657	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		A	2329009	G	A	2329009	2	1	78	1	0	0	0	0	0	0	0	1	33	1079	38	1		1	ABCA3	16	2329009	Silent	SNP	G	TCGA-13-0755-01A-01W-0372-09		2329009	88025744	73	3942											
TMEM186	25880	genome.wustl.edu	37	16	8889849	8889849	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr16:8889849C>T	ENST00000333050.6	-	2	635	c.602G>A	c.(601-603)cGt>cAt	p.R201H	PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000268261.4_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	201						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R201H(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CTGTGTGAAACGCTCTCTGTC	0.552																																																1	Substitution - Missense(1)	ovary(1)	16											165	142	150					16																	8889849		2197	4300	6497	8797350	SO:0001583	missense	25880			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.602G>A	16.37:g.8889849C>T	ENSP00000331640:p.Arg201His		8797350	B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849628	0.32699	.	.	ENSG00000184857	ENST00000333050	T	0.41758	0.99	5.41	4.47	0.54385	.	0.244211	0.21323	N	0.076430	T	0.38188	0.1031	M	0.68317	2.08	0.09310	N	0.999998	B	0.29805	0.257	B	0.25759	0.063	T	0.40664	-0.9551	10	0.59425	D	0.04	-15.942	7.4152	0.27040	0.0:0.7476:0.0:0.2524	.	201	Q96B77	TM186_HUMAN	H	201	ENSP00000331640:R201H	ENSP00000331640:R201H	R	-	2	0	TMEM186	8797350	0.597000	0.26874	0.052000	0.19188	0.116000	0.19942	1.485000	0.35519	1.295000	0.44724	0.591000	0.81541	CGT		0.552	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		T	8889849	C	T	8889849	3	4	78	1	0	0	0	0	1	0	0	0	16108	536	19	1	43	1	TMEM186	16	8889849	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	6560840	8889849	81464904	74	3943											
GRIN2A	2903	genome.wustl.edu	37	16	9934560	9934560	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr16:9934560C>T	ENST00000396573.2	-	8	1904	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G532E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G375E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G532E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G532E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G532E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	532					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G532E(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GACACTGATTCCCGTTTCCAC	0.468																																																1	Substitution - Missense(1)	ovary(1)	16											137	109	118					16																	9934560		2197	4300	6497	9842061	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1595G>A	16.37:g.9934560C>T	ENSP00000379818:p.Gly532Glu		9842061	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662720	0.88251	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.3	4.34	0.51931	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.79598	0.4473	H	0.95679	3.705	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.711	D;D;P	0.97110	1.0;1.0;0.447	D	0.85144	0.0982	9	.	.	.	.	12.9421	0.58350	0.0:0.9223:0.0:0.0777	.	375;532;532	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	E	532;532;375;532;532	ENSP00000379818:G532E;ENSP00000385872:G532E;ENSP00000441572:G375E;ENSP00000332549:G532E;ENSP00000379820:G532E	.	G	-	2	0	GRIN2A	9842061	1.000000	0.71417	0.843000	0.33291	0.974000	0.67602	7.684000	0.84104	1.222000	0.43521	0.655000	0.94253	GGA		0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9934560	C	T	9934560	3	4	78	1	0	0	0	0	1	0	0	0	6779	855	30	2	2827	2	GRIN2A	16	9934560	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	1044711	9934560	80420193	75	3944											
TP53	7157	genome.wustl.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr17:7579312C>A	ENST00000269305.4	-	4	564	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		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"	66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	17	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639						66	61	63					17																	7579312		2203	4300	6503	7520037	SO:0001630	splice_region_variant	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.375+1G>T	17.37:g.7579312C>A			7520037	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	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	A	7579312	C	A	7579312	5	1	78	1	0	0	0	0	0	0	1	0	16381	666	23	3	927	3	TP53	17	7579312	Splice_Site	SNP	C	TCGA-13-0755-01A-01W-0372-09		7579312	73615898	76	3945											
CACNB1	782	genome.wustl.edu	37	17	37339981	37339981	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr17:37339981C>G	ENST00000394303.3	-	11	1242	c.1035G>C	c.(1033-1035)aaG>aaC	p.K345N	CACNB1_ENST00000344140.5_Missense_Mutation_p.K390N|CACNB1_ENST00000394310.3_Missense_Mutation_p.K345N|CACNB1_ENST00000582877.1_5'Flank	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	345					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.K390N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGAGGTGATCTTGATGTAAA	0.567																																					Esophageal Squamous(5;100 366 38393 41452 45827)											1	Substitution - Missense(1)	ovary(1)	17											40	33	35					17																	37339981		2203	4299	6502	34593507	SO:0001583	missense	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1035G>C	17.37:g.37339981C>G	ENSP00000377840:p.Lys345Asn		34593507	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699730	0.68501	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	T;T;T	0.50548	0.74;0.74;0.74	5.35	2.29	0.28610	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.991;0.999	T	0.73642	-0.3918	10	0.87932	D	0	-26.1551	9.2626	0.37621	0.0:0.7587:0.0:0.2413	.	390;345;345	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	N	295;345;390;345;296	ENSP00000377840:K345N;ENSP00000345461:K390N;ENSP00000377847:K345N	ENSP00000345461:K390N	K	-	3	2	CACNB1	34593507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.281000	0.33214	0.644000	0.30656	0.491000	0.48974	AAG		0.567	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			G	37339981	C	G	37339981	3	3	78	1	0	0	0	0	1	0	0	0	2552	912	32	3	882	3	CACNB1	17	37339981	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	29760669	37339981	43855229	77	3946											
B4GALNT2	124872	genome.wustl.edu	37	17	47246987	47246987	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr17:47246987C>A	ENST00000300404.2	+	11	1657	c.1598C>A	c.(1597-1599)gCc>gAc	p.A533D	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A447D|RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A473D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	533					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)	p.A533D(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GAACTGGCTGCCCTAGAGAAG	0.542																																					GBM(124;244 1635 8663 18097 33175)											1	Substitution - Missense(1)	ovary(1)	17											96	87	90					17																	47246987		2203	4300	6503	44601986	SO:0001583	missense	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1598C>A	17.37:g.47246987C>A	ENSP00000300404:p.Ala533Asp		44601986	B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	7.912	0.736759	0.15574	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.25414	1.8;1.8;1.8	5.25	2.13	0.27403	.	0.982677	0.08312	N	0.965219	T	0.13884	0.0336	N	0.24115	0.695	0.09310	N	1	P;P	0.35348	0.496;0.454	B;B	0.31191	0.125;0.115	T	0.26744	-1.0094	10	0.19590	T	0.45	-2.1974	4.8938	0.13740	0.4033:0.4361:0.0:0.1606	.	473;533	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	D	447;473;533	ENSP00000425510:A447D;ENSP00000377022:A473D;ENSP00000300404:A533D	ENSP00000300404:A533D	A	+	2	0	B4GALNT2	44601986	0.000000	0.05858	0.052000	0.19188	0.072000	0.16883	0.484000	0.22308	0.206000	0.20587	-0.314000	0.08810	GCC		0.542	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		A	47246987	C	A	47246987	3	1	78	1	0	0	0	0	1	0	0	0	1267	739	26	3	1658	3	B4GALNT2	17	47246987	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	9907006	47246987	33948223	78	3947											
LASS4	79603	genome.wustl.edu	37	19	8322867	8322867	+	Silent	SNP	C	C	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr19:8322867C>A	ENST00000251363.5	+	10	1146	c.846C>A	c.(844-846)acC>acA	p.T282T	CERS4_ENST00000559336.1_Intron|CERS4_ENST00000558331.1_Silent_p.T231T|CERS4_ENST00000559450.1_Silent_p.T282T|CERS4_ENST00000595722.1_3'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	282	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.T282T(1)									TCTTTCCCACCCAGTGAGTCA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	19											201	161	175					19																	8322867		2203	4300	6503	8228867	SO:0001819	synonymous_variant	79603				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.846C>A	19.37:g.8322867C>A			8228867	D6W665	Silent	SNP	ENST00000251363.5	37	CCDS12197.1																																																																																				0.567	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		A	8322867	C	A	8322867	2	1	78	1	0	0	0	0	0	0	0	1	8641	610	22	3		3	LASS4	19	8322867	Silent	SNP	C	TCGA-13-0755-01A-01W-0372-09		8322867	50806116	79	3948											
MUC16	94025	genome.wustl.edu	37	19	8993503	8993503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr19:8993503G>T	ENST00000397910.4	-	66	41789	c.41586C>A	c.(41584-41586)tgC>tgA	p.C13862*	MUC16_ENST00000380951.5_Nonsense_Mutation_p.C503*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13865	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.?(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCGGTGGGTGCAGATGGCAT	0.592																																																1	Unknown(1)	ovary(1)	19											68	66	67					19																	8993503		1964	4151	6115	8854503	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41586C>A	19.37:g.8993503G>T	ENSP00000381008:p.Cys13862*		8854503	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.1|20.1	3.936602|3.936602	0.73442|0.73442	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|.	.|.	.|.	3.47|3.47	-3.32|-3.32	0.04973|0.04973	.|.	.|0.468148	.|0.15994	.|U	.|0.234659	T|.	0.37945|.	0.1022|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.47142|.	-0.9140|.	3|.	.|.	.|.	.|.	.|.	8.6105|8.6105	0.33800|0.33800	0.725:0.0:0.275:0.0|0.725:0.0:0.275:0.0	.|.	.|.	.|.	.|.	E|X	702|13862;503	.|.	.|.	A|C	-|-	2|3	0|2	MUC16|MUC16	8854503|8854503	0.043000|0.043000	0.20138|0.20138	0.014000|0.014000	0.15608|0.15608	0.017000|0.017000	0.09413|0.09413	-0.043000|-0.043000	0.12043|0.12043	-0.449000|-0.449000	0.07117|0.07117	-0.484000|-0.484000	0.04775|0.04775	GCA|TGC		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8993503	G	T	8993503	4	4	78	1	0	0	0	0	0	1	0	0	9973	1311	46	3	2013	3	MUC16	19	8993503	Nonsense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	670636	8993503	50135480	80	3949											
KRI1	65095	genome.wustl.edu	37	19	10670330	10670330	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr19:10670330T>C	ENST00000312962.6	-	11	1019	c.1000A>G	c.(1000-1002)Aga>Gga	p.R334G	KRI1_ENST00000361821.5_Missense_Mutation_p.R330G|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	328	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R334G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTCTCCTTTCTGCGCTCATCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	19											95	94	95					19																	10670330		2203	4300	6503	10531330	SO:0001583	missense	65095				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1000A>G	19.37:g.10670330T>C	ENSP00000320917:p.Arg334Gly		10531330	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887740	0.72410	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.36340	1.56;1.26	5.1	2.89	0.33648	.	0.103755	0.64402	D	0.000009	T	0.63165	0.2488	M	0.91140	3.18	0.46823	D	0.999217	D;D	0.71674	0.998;0.998	D;P	0.64687	0.928;0.905	T	0.68002	-0.5524	10	0.87932	D	0	-45.5729	11.4352	0.50064	0.0:0.0:0.4395:0.5605	.	334;330	Q8N9T8;D3YTE0	KRI1_HUMAN;.	G	334;330;334	ENSP00000320917:R334G;ENSP00000355366:R330G	ENSP00000320917:R334G	R	-	1	2	KRI1	10531330	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.016000	0.40971	0.223000	0.20920	0.477000	0.44152	AGA		0.617	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		C	10670330	T	C	10670330	3	2	78	1	0	0	0	0	1	0	0	0	8444	1588	55	4	1165	4	KRI1	19	10670330	Missense_Mutation	SNP	T	TCGA-13-0755-01A-01W-0372-09	1676827	10670330	48458653	81	3950											
USHBP1	83878	genome.wustl.edu	37	19	17367458	17367458	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr19:17367458C>T	ENST00000252597.3	-	9	1465	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	USHBP1_ENST00000431146.2_Missense_Mutation_p.R367H|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.R431H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCCTGGAGACGCTGGACATA	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											66	66	66					19																	17367458		2203	4300	6503	17228458	SO:0001583	missense	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1292G>A	19.37:g.17367458C>T	ENSP00000252597:p.Arg431His		17228458		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489396	0.26686	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.21191	2.04;2.02	4.9	1.63	0.23807	.	0.619580	0.15415	N	0.263540	T	0.14743	0.0356	L	0.42245	1.32	0.50467	D	0.999873	B;B	0.25850	0.072;0.136	B;B	0.18871	0.015;0.023	T	0.07233	-1.0783	10	0.35671	T	0.21	-4.2264	5.6189	0.17446	0.0:0.6523:0.0:0.3477	.	367;431	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	H	431;367	ENSP00000252597:R431H;ENSP00000407902:R367H	ENSP00000252597:R431H	R	-	2	0	USHBP1	17228458	0.562000	0.26586	0.996000	0.52242	0.631000	0.37964	-0.023000	0.12456	0.473000	0.27368	0.655000	0.94253	CGT		0.577	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		T	17367458	C	T	17367458	3	4	78	1	0	0	0	0	1	0	0	0	17037	536	19	1	839	1	USHBP1	19	17367458	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	6697128	17367458	41761525	82	3951											
ZNF585A	199704	genome.wustl.edu	37	19	37643247	37643247	+	Silent	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr19:37643247C>T	ENST00000356958.4	-	5	1812	c.1554G>A	c.(1552-1554)ggG>ggA	p.G518G	ZNF585A_ENST00000392157.2_Silent_p.G463G|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Silent_p.G463G|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G463G(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCTTCTCCCCAGTATGGA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	19											59	60	60					19																	37643247		2203	4300	6503	42335087	SO:0001819	synonymous_variant	199704			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1554G>A	19.37:g.37643247C>T			42335087	Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37																																																																																					0.398	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		T	37643247	C	T	37643247	2	4	78	1	0	0	0	0	0	0	0	1	18017	610	22	2		2	ZNF585A	19	37643247	Silent	SNP	C	TCGA-13-0755-01A-01W-0372-09	20275789	37643247	21485736	83	3952											
ZNF614	80110	genome.wustl.edu	37	19	52520367	52520367	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr19:52520367C>T	ENST00000270649.6	-	5	1028	c.484G>A	c.(484-486)Gag>Aag	p.E162K	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E162K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGTGTTTTCTCACCTCCAATA	0.318																																																1	Substitution - Missense(1)	ovary(1)	19											107	102	103					19																	52520367		2203	4299	6502	57212179	SO:0001583	missense	80110			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.484G>A	19.37:g.52520367C>T	ENSP00000270649:p.Glu162Lys		57212179	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	9.339	1.062510	0.19987	.	.	ENSG00000142556	ENST00000270649	T	0.07567	3.18	3.53	-2.93	0.05598	.	.	.	.	.	T	0.06142	0.0159	L	0.38838	1.175	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37502	-0.9703	9	0.52906	T	0.07	.	5.2593	0.15563	0.0:0.2911:0.1587:0.5503	.	162	Q8N883	ZN614_HUMAN	K	162	ENSP00000270649:E162K	ENSP00000270649:E162K	E	-	1	0	ZNF614	57212179	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.751000	0.04803	-0.602000	0.05775	0.591000	0.81541	GAG		0.318	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		T	52520367	C	T	52520367	3	4	78	1	0	0	0	0	1	0	0	0	18039	835	29	2	1277	2	ZNF614	19	52520367	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	14877120	52520367	6608616	84	3953											
TGM6	343641	genome.wustl.edu	37	20	2384442	2384442	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr20:2384442A>G	ENST00000202625.2	+	9	1370	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V	TGM6_ENST00000381423.1_Missense_Mutation_p.I437V	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	437					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.I437V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCGCGTGGACATCACTGACCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											117	113	115					20																	2384442		2203	4300	6503	2332442	SO:0001583	missense	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1309A>G	20.37:g.2384442A>G	ENSP00000202625:p.Ile437Val		2332442	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	A	5.556	0.287480	0.10513	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.97529	-4.42;-4.42	4.97	4.97	0.65823	.	0.102372	0.64402	D	0.000004	D	0.94666	0.8280	L	0.49640	1.575	0.30941	N	0.725773	B;B	0.17667	0.023;0.015	B;B	0.23150	0.044;0.009	D	0.90997	0.4839	10	0.23302	T	0.38	-26.8912	12.9715	0.58515	1.0:0.0:0.0:0.0	.	437;437	O95932-2;O95932	.;TGM3L_HUMAN	V	437	ENSP00000202625:I437V;ENSP00000370831:I437V	ENSP00000202625:I437V	I	+	1	0	TGM6	2332442	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	2.055000	0.41345	2.234000	0.73211	0.524000	0.50904	ATC		0.587	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		G	2384442	A	G	2384442	3	3	78	1	0	0	0	0	1	0	0	0	15834	217	8	4	1343	4	TGM6	20	2384442	Missense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09		2384442	60641078	85	3954											
GSS	2937	genome.wustl.edu	37	20	33533841	33533841	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr20:33533841G>C	ENST00000216951.2	-	3	288	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	GSS_ENST00000451957.2_Missense_Mutation_p.Q64E|GSS_ENST00000541098.1_5'UTR	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	64					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.Q64E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCATAGGCTTGCTCCAGCAGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											134	118	123					20																	33533841		2203	4300	6503	32997502	SO:0001583	missense	2937				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.190C>G	20.37:g.33533841G>C	ENSP00000216951:p.Gln64Glu		32997502	B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583242	0.86748	.	.	ENSG00000100983	ENST00000216951;ENST00000451957	D;D	0.90133	-2.62;-2.62	6.07	5.13	0.70059	Glutathione synthase, N-terminal, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.92378	0.7581	L	0.50847	1.595	0.80722	D	1	D;D	0.67145	0.996;0.986	P;P	0.60012	0.867;0.669	D	0.91926	0.5551	10	0.42905	T	0.14	-3.5583	14.3146	0.66440	0.0719:0.0:0.9281:0.0	.	64;64	B6F210;P48637	.;GSHB_HUMAN	E	64	ENSP00000216951:Q64E;ENSP00000407517:Q64E	ENSP00000216951:Q64E	Q	-	1	0	GSS	32997502	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.381000	0.97205	1.583000	0.49898	0.655000	0.94253	CAA		0.567	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			C	33533841	G	C	33533841	3	2	78	1	0	0	0	0	1	0	0	0	6829	1328	46	3	1278	3	GSS	20	33533841	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	31149399	33533841	29491679	86	3955											
CHD6	84181	genome.wustl.edu	37	20	40074317	40074317	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr20:40074317C>T	ENST00000373233.3	-	25	4042	c.3865G>A	c.(3865-3867)Gtg>Atg	p.V1289M	CHD6_ENST00000309279.7_Missense_Mutation_p.V772M	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1289					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.V1289M(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCTTGAACACGCCAATGAGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	20											130	107	115					20																	40074317		2203	4300	6503	39507731	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3865G>A	20.37:g.40074317C>T	ENSP00000362330:p.Val1289Met		39507731	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225817	0.95173	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	D;D	0.90324	-2.65;-2.65	5.91	5.91	0.95273	.	0.000000	0.52532	D	0.000080	D	0.95793	0.8631	M	0.81341	2.54	0.41241	D	0.986648	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.968	D	0.95640	0.8697	10	0.72032	D	0.01	-18.5735	20.2985	0.98592	0.0:1.0:0.0:0.0	.	772;1289	C9JFU2;Q8TD26	.;CHD6_HUMAN	M	1289;772	ENSP00000362330:V1289M;ENSP00000308684:V772M	ENSP00000308684:V772M	V	-	1	0	CHD6	39507731	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	GTG		0.522	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			T	40074317	C	T	40074317	3	4	78	1	0	0	0	0	1	0	0	0	3329	536	19	1	4334	1	CHD6	20	40074317	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09	6540476	40074317	22951203	87	3956											
HLCS	3141	genome.wustl.edu	37	21	38309497	38309497	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr21:38309497C>T	ENST00000399120.1	-	5	1478	c.248G>A	c.(247-249)aGt>aAt	p.S83N	HLCS_ENST00000336648.4_Missense_Mutation_p.S83N	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	83					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.S83N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGCAGGCTCACTCCCAGAGGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	21											83	73	76					21																	38309497		2203	4300	6503	37231367	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.248G>A	21.37:g.38309497C>T	ENSP00000382071:p.Ser83Asn		37231367	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587011	0.66105	.	.	ENSG00000159267	ENST00000399120;ENST00000336648;ENST00000448340;ENST00000419461	D;D	0.98150	-4.75;-4.75	5.42	-0.234	0.13074	.	1.199850	0.05389	N	0.538611	D	0.95050	0.8397	L	0.48642	1.525	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	D	0.86627	0.1883	10	0.34782	T	0.22	.	6.7132	0.23288	0.0:0.5044:0.1264:0.3692	.	83;83	B2RAH1;P50747	.;BPL1_HUMAN	N	83	ENSP00000382071:S83N;ENSP00000338387:S83N	ENSP00000338387:S83N	S	-	2	0	HLCS	37231367	0.000000	0.05858	0.000000	0.03702	0.996000	0.88848	0.258000	0.18387	0.016000	0.14998	0.655000	0.94253	AGT		0.557	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			T	38309497	C	T	38309497	3	4	78	1	0	0	0	0	1	0	0	0	7213	565	20	2	1964	2	HLCS	21	38309497	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09		38309497	9820398	88	3957											
ZNF70	7621	genome.wustl.edu	37	22	24086469	24086469	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr22:24086469T>C	ENST00000341976.3	-	2	1319	c.859A>G	c.(859-861)Aaa>Gaa	p.K287E		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K287E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CAAAAGGCTTTCCCACAGAGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	22											90	83	85					22																	24086469		2203	4300	6503	22416469	SO:0001583	missense	7621			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.859A>G	22.37:g.24086469T>C	ENSP00000339314:p.Lys287Glu		22416469		Missense_Mutation	SNP	ENST00000341976.3	37	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633370	0.67015	.	.	ENSG00000187792	ENST00000341976	T	0.07567	3.18	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17280	0.0415	M	0.64170	1.965	0.29756	N	0.83596	D	0.63046	0.992	P	0.53224	0.721	T	0.02743	-1.1116	9	0.72032	D	0.01	-18.9521	10.3795	0.44104	0.0:0.0:0.0:1.0	.	287	Q9UC06	ZNF70_HUMAN	E	287	ENSP00000339314:K287E	ENSP00000339314:K287E	K	-	1	0	ZNF70	22416469	0.991000	0.36638	0.998000	0.56505	0.982000	0.71751	2.235000	0.43044	1.765000	0.52091	0.374000	0.22700	AAA		0.532	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		C	24086469	T	C	24086469	3	2	78	1	0	0	0	0	1	0	0	0	18103	1792	62	4	485	4	ZNF70	22	24086469	Missense_Mutation	SNP	T	TCGA-13-0755-01A-01W-0372-09		24086469	27218097	89	3958											
SEC14L3	266629	genome.wustl.edu	37	22	30857550	30857550	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr22:30857550G>C	ENST00000215812.4	-	10	993	c.903C>G	c.(901-903)tgC>tgG	p.C301W	SEC14L3_ENST00000540910.1_Missense_Mutation_p.C224W|SEC14L3_ENST00000402286.1_Missense_Mutation_p.C224W|SEC14L3_ENST00000403066.1_Missense_Mutation_p.C242W|SEC14L3_ENST00000415957.2_Missense_Mutation_p.C242W|SEC14L3_ENST00000539629.1_Missense_Mutation_p.C242W|SEC14L3_ENST00000401751.1_Missense_Mutation_p.C242W	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	301	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.C301W(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ACCTGAGAACGCAGCCTGGAA	0.587																																					Esophageal Squamous(108;290 1516 3584 23771 37333)											1	Substitution - Missense(1)	ovary(1)	22											82	70	74					22																	30857550		2203	4300	6503	29187550	SO:0001583	missense	266629			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.903C>G	22.37:g.30857550G>C	ENSP00000215812:p.Cys301Trp		29187550	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220349	0.58560	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.86	-2.64	0.06114	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	T	0.66689	-0.5860	10	0.87932	D	0	-15.9341	13.6576	0.62348	0.4437:0.0:0.5563:0.0	.	224;301	E9PE57;Q9UDX4	.;S14L3_HUMAN	W	242;242;301;224;242;242;224	ENSP00000385941:C242W;ENSP00000401864:C242W;ENSP00000215812:C301W;ENSP00000385004:C224W;ENSP00000383896:C242W;ENSP00000444691:C242W;ENSP00000439752:C224W	ENSP00000215812:C301W	C	-	3	2	SEC14L3	29187550	0.539000	0.26402	0.992000	0.48379	0.886000	0.51366	-0.074000	0.11450	-0.342000	0.08363	-0.946000	0.02672	TGC		0.587	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		C	30857550	G	C	30857550	3	2	78	1	0	0	0	0	1	0	0	0	13986	1079	38	3	311	3	SEC14L3	22	30857550	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	6771081	30857550	20447016	90	3959											
FBLN1	2192	genome.wustl.edu	37	22	45914631	45914631	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr22:45914631G>A	ENST00000327858.6	+	2	244	c.149G>A	c.(148-150)tGc>tAc	p.C50Y	FBLN1_ENST00000442170.2_Missense_Mutation_p.C50Y|FBLN1_ENST00000348697.2_Missense_Mutation_p.C50Y|FBLN1_ENST00000340923.5_Missense_Mutation_p.C50Y|FBLN1_ENST00000402984.3_Missense_Mutation_p.C50Y|FBLN1_ENST00000262722.7_Missense_Mutation_p.C50Y	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	50	Anaphylatoxin-like 1. {ECO:0000255|PROSITE-ProRule:PRU00022}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.C50Y(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGAAGGACTGCTCGCTGCCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	22											89	70	76					22																	45914631		2203	4300	6503	44293295	SO:0001583	missense	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.149G>A	22.37:g.45914631G>A	ENSP00000331544:p.Cys50Tyr		44293295	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969686	0.74246	.	.	ENSG00000077942	ENST00000411478;ENST00000445110;ENST00000455233;ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000439835;ENST00000450975;ENST00000454279	D;D;D;D;D;D;D;D;T	0.96265	-3.96;-3.96;-3.96;-3.62;-3.96;-3.96;-3.96;-3.96;0.51	4.64	4.64	0.57946	Anaphylatoxin/fibulin (4);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	L	0.36672	1.1	0.54753	D	0.99998	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.997;0.998;1.0;0.999	D	0.97151	0.9831	10	0.87932	D	0	.	14.529	0.67912	0.0:0.0:1.0:0.0	.	50;50;50;50	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	Y	58;8;50;50;50;50;50;50;50;8;59;8	ENSP00000415289:C58Y;ENSP00000402963:C50Y;ENSP00000262723:C50Y;ENSP00000385521:C50Y;ENSP00000262722:C50Y;ENSP00000331544:C50Y;ENSP00000393812:C50Y;ENSP00000342212:C50Y;ENSP00000414584:C8Y	ENSP00000262722:C50Y	C	+	2	0	FBLN1	44293295	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.870000	0.63035	2.414000	0.81942	0.655000	0.94253	TGC		0.552	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		A	45914631	G	A	45914631	3	1	78	1	0	0	0	0	1	0	0	0	5698	1319	46	2	155	2	FBLN1	22	45914631	Missense_Mutation	SNP	G	TCGA-13-0755-01A-01W-0372-09	15057081	45914631	5389935	91	3960											
TRMU	55687	genome.wustl.edu	37	22	46742395	46742395	+	Silent	SNP	T	T	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chr22:46742395T>G	ENST00000290846.4	+	4	772	c.432T>G	c.(430-432)gtT>gtG	p.V144V	TRMU_ENST00000381019.3_Silent_p.V144V|TRMU_ENST00000424260.2_Silent_p.V109V	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	144					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)	p.V144V(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		AGAAGCACGTTAAGAAGCCCG	0.443																																																1	Substitution - coding silent(1)	ovary(1)	22											80	83	82					22																	46742395		2203	4300	6503	45121059	SO:0001819	synonymous_variant	55687			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.432T>G	22.37:g.46742395T>G			45121059	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	ENST00000290846.4	37	CCDS14075.1																																																																																				0.443	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		G	46742395	T	G	46742395	2	3	78	1	0	0	0	0	0	0	0	1	16571	1741	61	5		5	TRMU	22	46742395	Silent	SNP	T	TCGA-13-0755-01A-01W-0372-09	827764	46742395	4562171	92	3961											
VSIG1	340547	genome.wustl.edu	37	X	107310217	107310217	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chrX:107310217C>G	ENST00000217957.5	+	3	382	c.265C>G	c.(265-267)Cga>Gga	p.R89G	VSIG1_ENST00000415430.3_Missense_Mutation_p.R125G|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	89	Ig-like V-type 1.					integral component of membrane (GO:0016021)		p.R89G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ATTTAAAGATCGAATTACAGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											132	115	120					X																	107310217		2203	4300	6503	107196873	SO:0001583	missense	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.265C>G	X.37:g.107310217C>G	ENSP00000217957:p.Arg89Gly		107196873	C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358432	0.41801	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	T;T;T	0.72394	-0.65;1.09;-0.65	5.19	5.19	0.71726	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	D	0.87293	0.6141	M	0.92077	3.27	0.44500	D	0.997449	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90178	0.4240	10	0.87932	D	0	.	14.5308	0.67923	0.0:1.0:0.0:0.0	.	125;89	C9J4P2;Q86XK7	.;VSIG1_HUMAN	G	125;89;125	ENSP00000402219:R125G;ENSP00000217957:R89G;ENSP00000407102:R125G	ENSP00000217957:R89G	R	+	1	2	VSIG1	107196873	0.993000	0.37304	0.646000	0.29493	0.096000	0.18686	2.216000	0.42871	2.406000	0.81754	0.594000	0.82650	CGA		0.443	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		G	107310217	C	G	107310217	3	3	78	1	0	0	0	0	1	0	0	0	17222	876	31	3	387	3	VSIG1	23	107310217	Missense_Mutation	SNP	C	TCGA-13-0755-01A-01W-0372-09		107310217	47960343	93	3962											
DUSP9	1852	genome.wustl.edu	37	X	152915581	152915581	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chrX:152915581A>T	ENST00000342782.3	+	4	1241	c.976A>T	c.(976-978)Aac>Tac	p.N326Y	DUSP9_ENST00000370167.4_Missense_Mutation_p.N326Y			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	326	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N326Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGAAGTCTAACATCTCCCC	0.592																																																1	Substitution - Missense(1)	ovary(1)	X											273	235	248					X																	152915581		2203	4300	6503	152568775	SO:0001583	missense	1852			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.976A>T	X.37:g.152915581A>T	ENSP00000345853:p.Asn326Tyr		152568775	D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	a	23.7	4.449341	0.84101	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	D;D	0.85773	-2.03;-2.03	4.53	4.53	0.55603	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.077205	0.52532	D	0.000075	D	0.90164	0.6926	M	0.63208	1.945	0.53688	D	0.999976	D	0.89917	1.0	D	0.79784	0.993	D	0.90894	0.4763	10	0.72032	D	0.01	.	12.2239	0.54449	1.0:0.0:0.0:0.0	.	326	Q99956	DUS9_HUMAN	Y	326	ENSP00000359186:N326Y;ENSP00000345853:N326Y	ENSP00000345853:N326Y	N	+	1	0	DUSP9	152568775	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	6.934000	0.75880	1.799000	0.52666	0.430000	0.28490	AAC		0.592	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		T	152915581	A	T	152915581	3	4	78	1	0	0	0	0	1	0	0	0	4832	362	13	5	986	5	DUSP9	23	152915581	Missense_Mutation	SNP	A	TCGA-13-0755-01A-01W-0372-09	45605364	152915581	2354979	94	3963											
MPP1	4354	genome.wustl.edu	37	X	154020120	154020120	+	Silent	SNP	T	T	A			TCGA-13-0755-01A-01W-0372-09	TCGA-13-0755-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9bd227fa-e52a-4805-bd04-ad63df0930af	f96a9dfb-78a7-4c0d-adf1-d3125400cfa8	g.chrX:154020120T>A	ENST00000369534.3	-	3	396	c.249A>T	c.(247-249)ggA>ggT	p.G83G	MPP1_ENST00000413259.3_Silent_p.G53G|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Silent_p.G83G	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	83	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.G83G(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAGCGTGATTCCCTGAAATA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	X											110	85	94					X																	154020120		2203	4300	6503	153673314	SO:0001819	synonymous_variant	4354				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.249A>T	X.37:g.154020120T>A			153673314	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Silent	SNP	ENST00000369534.3	37	CCDS14762.1																																																																																				0.418	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		A	154020120	T	A	154020120	2	1	78	1	0	0	0	0	0	0	0	1	9733	1770	62	5		5	MPP1	23	154020120	Silent	SNP	T	TCGA-13-0755-01A-01W-0372-09	1104539	154020120	1250440	95	3964											
NOC2L	26155	genome.wustl.edu	37	1	881892	881892	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:881892T>G	ENST00000327044.6	-	15	1742	c.1693A>C	c.(1693-1695)Aac>Cac	p.N565H		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	565					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.N565H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGGCAGTAGTTGGCCACCTTG	0.632																																																1	Substitution - Missense(1)	ovary(1)	1											37	39	39					1																	881892		2203	4300	6503	871755	SO:0001583	missense	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1693A>C	1.37:g.881892T>G	ENSP00000317992:p.Asn565His		871755	Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794229	0.90453	.	.	ENSG00000188976	ENST00000327044	T	0.44482	0.92	5.16	5.16	0.70880	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.67569	2.06	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.74674	0.983;0.983;0.984	T	0.66260	-0.5968	10	0.87932	D	0	-55.8124	14.1658	0.65475	0.0:0.0:0.0:1.0	.	565;565;332	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	H	565	ENSP00000317992:N565H	ENSP00000317992:N565H	N	-	1	0	NOC2L	871755	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.820000	0.69250	1.937000	0.56155	0.374000	0.22700	AAC		0.632	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		G	881892	T	G	881892	3	3	79	1	0	0	0	0	1	0	0	0	10513	1812	63	5	576	5	NOC2L	1	881892	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09		881892	248368729	1	3965											
CELA2B	51032	genome.wustl.edu	37	1	15807631	15807631	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:15807631C>G	ENST00000375910.3	+	3	193	c.168C>G	c.(166-168)caC>caG	p.H56Q	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	56	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.H56Q(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						AGTGGTACCACACCTGCGGAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											129	112	118					1																	15807631		2203	4300	6503	15680218	SO:0001583	missense	51032				CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.168C>G	1.37:g.15807631C>G	ENSP00000365075:p.His56Gln		15680218	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877539	0.51801	.	.	ENSG00000215704	ENST00000375910;ENST00000375909;ENST00000422901	D;D	0.93763	-3.28;-2.51	4.0	4.0	0.46444	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	U	0.000018	D	0.95620	0.8576	M	0.76838	2.35	0.37795	D	0.927491	D	0.89917	1.0	D	0.97110	1.0	D	0.95870	0.8890	10	0.87932	D	0	.	7.7378	0.28825	0.0:0.886:0.0:0.114	.	56	P08218	CEL2B_HUMAN	Q	56;28;40	ENSP00000365075:H56Q;ENSP00000399811:H40Q	ENSP00000365074:H28Q	H	+	3	2	CELA2B	15680218	1.000000	0.71417	0.993000	0.49108	0.579000	0.36224	3.542000	0.53625	2.222000	0.72286	0.603000	0.83216	CAC		0.617	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		G	15807631	C	G	15807631	3	3	79	1	0	0	0	0	1	0	0	0	3212	477	17	3	178	3	CELA2B	1	15807631	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	14925739	15807631	233442990	2	3966											
SEPN1	57190	genome.wustl.edu	37	1	26135163	26135163	+	Silent	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:26135163T>A	ENST00000374315.1	+	4	566	c.528T>A	c.(526-528)ctT>ctA	p.L176L	SEPN1_ENST00000361547.2_Silent_p.L210L|SEPN1_ENST00000354177.4_Silent_p.L176L	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	210						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.L210L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCTTCCTTCCCCCGCCAG	0.657																																																1	Substitution - coding silent(1)	ovary(1)	1											69	81	77					1																	26135163		2057	4190	6247	26007750	SO:0001819	synonymous_variant	57190			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.528T>A	1.37:g.26135163T>A			26007750	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP	ENST00000374315.1	37	CCDS41283.1																																																																																				0.657	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		A	26135163	T	A	26135163	2	1	79	1	0	0	0	0	0	0	0	1	14059	1770	62	5		5	SEPN1	1	26135163	Silent	SNP	T	TCGA-13-0760-01A-01W-0372-09	10327532	26135163	223115458	3	3967											
ARID1A	8289	genome.wustl.edu	37	1	27102196	27102196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:27102196C>T	ENST00000324856.7	+	19	5493	c.5122C>T	c.(5122-5124)Cag>Tag	p.Q1708*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1491*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q36*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1325*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1708					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1708*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAACCTCAGTCAGGTGAGTAT	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	ovary(1)	1											136	112	120					1																	27102196		2203	4300	6503	26974783	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5122C>T	1.37:g.27102196C>T	ENSP00000320485:p.Gln1708*		26974783	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.423085|10.423085	0.99402|0.99402	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|T	.|0.03831	.|3.79	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.114465|.	0.64402|.	D|.	0.000010|.	.|T	.|0.19725	.|0.0474	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00066	.|-1.2146	.|6	0.72032|0.87932	D|D	0.01|0	-5.9144|-5.9144	18.9294|18.9294	0.92558|0.92558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1708;1491;1325;36|604	.|ENSP00000390317:S604L	ENSP00000320485:Q1708X|ENSP00000390317:S604L	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26974783|26974783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.945000|5.945000	0.70226|0.70226	2.711000|2.711000	0.92665|0.92665	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27102196	C	T	27102196	4	4	79	1	0	0	0	0	0	1	0	0	913	827	29	2	5196	2	ARID1A	1	27102196	Nonsense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	967033	27102196	222148425	4	3968											
PCSK9	255738	genome.wustl.edu	37	1	55523739	55523739	+	Missense_Mutation	SNP	C	C	A	rs140072072		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:55523739C>A	ENST00000302118.5	+	8	1501	c.1211C>A	c.(1210-1212)cCg>cAg	p.P404Q	PCSK9_ENST00000543384.1_Missense_Mutation_p.P204Q|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	404	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P404Q(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCTGCCGAGCCGGAGCTCACC	0.612																																					Pancreas(137;1454 1827 5886 22361 42375)											1	Substitution - Missense(1)	ovary(1)	1											71	65	67					1																	55523739		2203	4300	6503	55296327	SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1211C>A	1.37:g.55523739C>A	ENSP00000303208:p.Pro404Gln		55296327	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304092	0.60305	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	T;T	0.81163	-1.46;-1.46	4.39	3.48	0.39840	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.067800	0.64402	D	0.000020	D	0.84279	0.5437	M	0.81239	2.535	0.36382	D	0.861954	D	0.59357	0.985	P	0.49799	0.622	D	0.88829	0.3304	10	0.87932	D	0	-11.5511	12.6057	0.56523	0.0:0.9181:0.0:0.0819	.	404	Q8NBP7	PCSK9_HUMAN	Q	404;204	ENSP00000303208:P404Q;ENSP00000441859:P204Q	ENSP00000303208:P404Q	P	+	2	0	PCSK9	55296327	0.916000	0.31088	0.013000	0.15412	0.412000	0.31113	2.014000	0.40951	0.955000	0.37878	0.563000	0.77884	CCG		0.612	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		A	55523739	C	A	55523739	3	1	79	1	0	0	0	0	1	0	0	0	11606	652	23	3	1241	3	PCSK9	1	55523739	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	28421543	55523739	193726882	5	3969											
CCDC18	343099	genome.wustl.edu	37	1	93677660	93677660	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:93677660T>G	ENST00000343253.7	+	11	1839	c.1337T>G	c.(1336-1338)aTt>aGt	p.I446S	CCDC18_ENST00000338949.4_Missense_Mutation_p.I245S|CCDC18_ENST00000401026.3_Missense_Mutation_p.I446S|CCDC18_ENST00000557479.1_Missense_Mutation_p.I564S|CCDC18_ENST00000334652.5_De_novo_Start_InFrame			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	446								p.I564S(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGTGCCAGAATTAAGCTTGCA	0.299																																																1	Substitution - Missense(1)	ovary(1)	1											91	88	89					1																	93677660		1794	4059	5853	93450248	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1337T>G	1.37:g.93677660T>G	ENSP00000343377:p.Ile446Ser		93450248	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.23|14.23	2.473454|2.473454	0.43942|0.43942	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.22539|.	1.95;1.95;1.95;1.95;1.95|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.555566|.	0.18035|.	N|.	0.153806|.	T|T	0.50463|0.50463	0.1617|0.1617	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;D|.	0.56035|.	0.902;0.974|.	P;P|.	0.56343|.	0.602;0.796|.	T|T	0.53823|0.53823	-0.8384|-0.8384	10|5	0.10377|.	T|.	0.69|.	.|.	10.4251|10.4251	0.44373|0.44373	0.0:0.0725:0.0:0.9274|0.0:0.0725:0.0:0.9274	.|.	446;564|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	S|V	446;446;564;245;166|500	ENSP00000343377:I446S;ENSP00000383808:I446S;ENSP00000451099:I564S;ENSP00000344380:I245S;ENSP00000391151:I166S|.	ENSP00000344380:I245S|.	I|L	+|+	2|1	0|2	CCDC18|CCDC18	93450248|93450248	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.931000|1.931000	0.40134|0.40134	2.192000|2.192000	0.70111|0.70111	0.460000|0.460000	0.39030|0.39030	ATT|TTA		0.299	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		G	93677660	T	G	93677660	3	3	79	1	0	0	0	0	1	0	0	0	2794	1493	52	5	1733	5	CCDC18	1	93677660	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	38153921	93677660	155572961	6	3970											
COL11A1	1301	genome.wustl.edu	37	1	103347309	103347309	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:103347309A>T	ENST00000370096.3	-	65	5296	c.4984T>A	c.(4984-4986)Tca>Aca	p.S1662T	COL11A1_ENST00000358392.2_Missense_Mutation_p.S1674T|COL11A1_ENST00000353414.4_Missense_Mutation_p.S1623T|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1546T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1662	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.S1674T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTGGCCATGATGAAATTCTT	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											91	83	86					1																	103347309		2202	4300	6502	103119897	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4984T>A	1.37:g.103347309A>T	ENSP00000359114:p.Ser1662Thr		103119897	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.749958	0.49257	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.9	4.9	0.64082	Fibrillar collagen, C-terminal (3);	0.249017	0.34959	N	0.003543	T	0.69557	0.3124	L	0.38649	1.16	0.58432	D	0.999998	P;D;D;D;P	0.56287	0.884;0.969;0.969;0.975;0.859	P;P;P;P;P	0.55965	0.748;0.683;0.683;0.788;0.632	T	0.73990	-0.3808	10	0.54805	T	0.06	.	14.6652	0.68901	1.0:0.0:0.0:0.0	.	1546;1623;1674;1662;882	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	T	1662;1674;1623;882;1546	ENSP00000359114:S1662T;ENSP00000351163:S1674T;ENSP00000302551:S1623T;ENSP00000426533:S1546T	ENSP00000302551:S1623T	S	-	1	0	COL11A1	103119897	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	3.279000	0.51670	1.881000	0.54492	0.367000	0.22151	TCA		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103347309	A	T	103347309	3	4	79	1	0	0	0	0	1	0	0	0	3667	333	12	5	448	5	COL11A1	1	103347309	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	9669649	103347309	145903312	7	3971											
ZNF697	90874	genome.wustl.edu	37	1	120168565	120168565	+	Silent	SNP	C	C	T	rs374154556		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:120168565C>T	ENST00000421812.2	-	2	278	c.159G>A	c.(157-159)ccG>ccA	p.P53P		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P53P(1)		ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCTCCGGCTCCGGATGGCCTT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	1						C		0,3888		0,0,1944	118	122	120		159	-5	0	1		120	2,8276		0,2,4137	no	coding-synonymous	ZNF697	NM_001080470.1		0,2,6081	TT,TC,CC		0.0242,0.0,0.0164		53/546	120168565	2,12164	1944	4139	6083	119970088	SO:0001819	synonymous_variant	90874			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.159G>A	1.37:g.120168565C>T			119970088	Q96IT2	Silent	SNP	ENST00000421812.2	37	CCDS44202.1																																																																																				0.532	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		T	120168565	C	T	120168565	2	4	79	1	0	0	0	0	0	0	0	1	18100	639	23	1		1	ZNF697	1	120168565	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	16821256	120168565	129082056	8	3972											
CGN	57530	genome.wustl.edu	37	1	151508330	151508330	+	Silent	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:151508330G>A	ENST00000271636.7	+	18	3286	c.3153G>A	c.(3151-3153)gaG>gaA	p.E1051E		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1045					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.E1051E(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCAGCTTGAGTCCCAGAATC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	1											50	52	52					1																	151508330		2203	4300	6503	149774954	SO:0001819	synonymous_variant	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3153G>A	1.37:g.151508330G>A			149774954	A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	CCDS999.1																																																																																				0.562	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		A	151508330	G	A	151508330	2	1	79	1	0	0	0	0	0	0	0	1	3303	1020	36	2		2	CGN	1	151508330	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	31339765	151508330	97742291	9	3973											
LCE3E	353145	genome.wustl.edu	37	1	152538458	152538458	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:152538458C>T	ENST00000368789.1	-	2	282	c.227G>A	c.(226-228)gGt>gAt	p.G76D		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	76					keratinization (GO:0031424)			p.G76D(1)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		GCCTTGCTGACCACTGCCCCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											59	70	66					1																	152538458		2203	4300	6503	150805082	SO:0001583	missense	353145				CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"Late cornified envelopes"	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.227G>A	1.37:g.152538458C>T	ENSP00000357778:p.Gly76Asp		150805082	A2RRM6	Missense_Mutation	SNP	ENST00000368789.1	37	CCDS1013.1	.	.	.	.	.	.	.	.	.	.	C	4.990	0.183771	0.09495	.	.	ENSG00000185966	ENST00000368789	T	0.09255	3.0	3.55	2.58	0.30949	.	.	.	.	.	T	0.14356	0.0347	.	.	.	0.31618	N	0.650603	D	0.71674	0.998	D	0.64776	0.929	T	0.02391	-1.1166	8	0.87932	D	0	.	8.6141	0.33820	0.0:0.7626:0.2374:0.0	.	76	Q5T5B0	LCE3E_HUMAN	D	76	ENSP00000357778:G76D	ENSP00000357778:G76D	G	-	2	0	LCE3E	150805082	0.017000	0.18338	0.848000	0.33437	0.189000	0.23516	-0.102000	0.10956	0.760000	0.33108	0.557000	0.71058	GGT		0.637	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435		T	152538458	C	T	152538458	3	4	79	1	0	0	0	0	1	0	0	0	8673	507	18	2	55	2	LCE3E	1	152538458	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	1030128	152538458	96712163	10	3974											
FCRL6	343413	genome.wustl.edu	37	1	159785238	159785238	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:159785238G>C	ENST00000368106.3	+	9	1169	c.1168G>C	c.(1168-1170)Gtg>Ctg	p.V390L	FCRL6_ENST00000339348.5_Intron|FCRL6_ENST00000321935.6_Missense_Mutation_p.V397L|FCRL6_ENST00000392235.3_Missense_Mutation_p.V295L	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	390						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.V390L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGAGTTCACCGTGGGGAGAAA	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											116	99	105					1																	159785238		2203	4300	6503	158051862	SO:0001583	missense	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1168G>C	1.37:g.159785238G>C	ENSP00000357086:p.Val390Leu		158051862	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	G	6.940	0.543160	0.13250	.	.	ENSG00000181036	ENST00000321935;ENST00000392235;ENST00000368106	T;T;T	0.01145	5.27;5.57;5.55	3.15	-0.638	0.11500	.	.	.	.	.	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28004	-1.0057	9	0.23302	T	0.38	.	4.1214	0.10108	0.0:0.1481:0.4747:0.3772	.	295;390;397	Q6DN72-4;Q6DN72;Q6DN72-2	.;FCRL6_HUMAN;.	L	397;295;390	ENSP00000320625:V397L;ENSP00000376068:V295L;ENSP00000357086:V390L	ENSP00000320625:V397L	V	+	1	0	FCRL6	158051862	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.406000	0.07187	-0.128000	0.11641	0.313000	0.20887	GTG		0.547	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		C	159785238	G	C	159785238	3	2	79	1	0	0	0	0	1	0	0	0	5799	1145	40	3	1202	3	FCRL6	1	159785238	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	7246780	159785238	89465383	11	3975											
F5	2153	genome.wustl.edu	37	1	169484764	169484764	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:169484764T>C	ENST00000367797.3	-	24	6647	c.6446A>G	c.(6445-6447)tAt>tGt	p.Y2149C	F5_ENST00000367796.3_Missense_Mutation_p.Y2154C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2149	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.Y2149C(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCTCTTTACATACATTTCAGA	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											185	173	177					1																	169484764		2203	4300	6503	167751388	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6446A>G	1.37:g.169484764T>C	ENSP00000356771:p.Tyr2149Cys		167751388	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997956	0.54147	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.84589	-1.87;-1.87	5.61	3.21	0.36854	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.211231	0.42682	D	0.000673	D	0.88969	0.6582	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89086	0.3479	10	0.87932	D	0	-10.3756	10.3646	0.44015	0.4005:0.0:0.0:0.5995	.	2149	P12259	FA5_HUMAN	C	2149;2154	ENSP00000356771:Y2149C;ENSP00000356770:Y2154C	ENSP00000356770:Y2154C	Y	-	2	0	F5	167751388	0.959000	0.32827	0.984000	0.44739	0.930000	0.56654	0.566000	0.23593	0.357000	0.24183	0.383000	0.25322	TAT		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169484764	T	C	169484764	3	2	79	1	0	0	0	0	1	0	0	0	5348	1406	49	4	236	4	F5	1	169484764	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	9699526	169484764	79765857	12	3976											
FAM5B	57795	genome.wustl.edu	37	1	177250578	177250578	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:177250578G>A	ENST00000361539.4	+	8	2578	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	756					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.V756M(1)									CAACAATGAGGTGGGCAGGAT	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											74	73	73					1																	177250578		2203	4300	6503	175517201	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2266G>A	1.37:g.177250578G>A	ENSP00000354481:p.Val756Met		175517201	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812749	0.70912	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.21734	1.99	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.91635	0.999;0.754	T	0.23048	-1.0199	10	0.56958	D	0.05	-15.4833	18.4543	0.90714	0.0:0.0:1.0:0.0	.	651;756	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	M	509;756	ENSP00000354481:V756M	ENSP00000354481:V756M	V	+	1	0	FAM5B	175517201	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.731000	0.98807	2.457000	0.83068	0.313000	0.20887	GTG		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		A	177250578	G	A	177250578	3	1	79	1	0	0	0	0	1	0	0	0	5593	1261	44	2	2292	2	FAM5B	1	177250578	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	7765814	177250578	72000043	13	3977											
KCNH1	3756	genome.wustl.edu	37	1	211192125	211192125	+	Splice_Site	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:211192125C>A	ENST00000271751.4	-	6	1059	c.1032G>T	c.(1030-1032)caG>caT	p.Q344H	KCNH1_ENST00000367007.4_Intron			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	344					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.Q344H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGGGATGTACCTGACTCTCTC	0.438																																																1	Substitution - Missense(1)	ovary(1)	1											125	115	119					1																	211192125		2203	4300	6503	209258748	SO:0001630	splice_region_variant	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1032+1G>T	1.37:g.211192125C>A			209258748	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	c	11.38	1.622300	0.28889	.	.	ENSG00000143473	ENST00000271751	D	0.98512	-4.97	4.23	4.23	0.50019	Ion transport (1);	0.367279	0.20812	N	0.085222	D	0.96112	0.8733	L	0.56124	1.755	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.93957	0.7237	9	.	.	.	.	12.2901	0.54812	0.0:1.0:0.0:0.0	.	344	O95259	KCNH1_HUMAN	H	344	ENSP00000271751:Q344H	.	Q	-	3	2	KCNH1	209258748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.407000	0.44565	2.349000	0.79799	0.558000	0.71614	CAG		0.438	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	Missense_Mutation	A	211192125	C	A	211192125	5	1	79	1	0	0	0	0	0	0	1	0	8031	695	24	3	1961	3	KCNH1	1	211192125	Splice_Site	SNP	C	TCGA-13-0760-01A-01W-0372-09	33941547	211192125	38058496	14	3978											
USH2A	7399	genome.wustl.edu	37	1	216144095	216144095	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:216144095A>G	ENST00000307340.3	-	36	7215	c.6829T>C	c.(6829-6831)Tat>Cat	p.Y2277H	USH2A_ENST00000366943.2_Missense_Mutation_p.Y2277H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2277	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Y2277H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCATCTAGATATAATCCATAA	0.393										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											101	98	99					1																	216144095		2203	4300	6503	214210718	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6829T>C	1.37:g.216144095A>G	ENSP00000305941:p.Tyr2277His		214210718	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719959	0.68844	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55588	0.51;0.51	5.72	5.72	0.89469	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.40144	N	0.001177	T	0.72382	0.3453	M	0.77313	2.365	0.37687	D	0.923704	D	0.89917	1.0	D	0.85130	0.997	T	0.74532	-0.3634	10	0.29301	T	0.29	.	15.9989	0.80275	1.0:0.0:0.0:0.0	.	2277	O75445	USH2A_HUMAN	H	2277	ENSP00000305941:Y2277H;ENSP00000355910:Y2277H	ENSP00000305941:Y2277H	Y	-	1	0	USH2A	214210718	1.000000	0.71417	0.985000	0.45067	0.706000	0.40770	5.677000	0.68142	2.179000	0.69175	0.482000	0.46254	TAT		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216144095	A	G	216144095	3	3	79	1	0	0	0	0	1	0	0	0	17036	449	16	4	8927	4	USH2A	1	216144095	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	4951970	216144095	33106526	15	3979											
TMEM63A	9725	genome.wustl.edu	37	1	226034785	226034785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:226034785G>A	ENST00000366835.3	-	24	2650	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	794					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q794*(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTGGCGCTCTGCGCCAAGCAC	0.667																																																2	Substitution - Nonsense(2)	ovary(1)|large_intestine(1)	1											63	63	63					1																	226034785		2203	4300	6503	224101408	SO:0001587	stop_gained	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2380C>T	1.37:g.226034785G>A	ENSP00000355800:p.Gln794*		224101408	Q53GI7|Q5TE96|Q8N2U2	Nonsense_Mutation	SNP	ENST00000366835.3	37	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	G	37	6.237780	0.97403	.	.	ENSG00000196187	ENST00000366835	.	.	.	3.46	3.46	0.39613	.	0.710219	0.13253	N	0.401902	.	.	.	.	.	.	0.32765	N	0.504565	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-7.7796	10.6255	0.45506	0.0:0.0:1.0:0.0	.	.	.	.	X	794	.	ENSP00000355800:Q794X	Q	-	1	0	TMEM63A	224101408	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	1.216000	0.32443	1.954000	0.56735	0.448000	0.29417	CAG		0.667	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		A	226034785	G	A	226034785	4	1	79	1	0	0	0	0	0	1	0	0	16190	1328	46	2	47	2	TMEM63A	1	226034785	Nonsense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	9890690	226034785	23215836	16	3980											
WNT9A	7483	genome.wustl.edu	37	1	228111898	228111898	+	Missense_Mutation	SNP	G	G	A	rs149009608	byFrequency	TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr1:228111898G>A	ENST00000272164.5	-	3	566	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	186					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R186W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TTGCTTGACCGTCTGCCCAGG	0.622													G|||	7	0.00139776	0.0023	0.0029	5008	,	,		10787	0		0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	1						G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	107	99	102		556	1	0.6	1	dbSNP_134	102	0,8600		0,0,4300	yes	missense	WNT9A	NM_003395.2	101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	186/366	228111898	3,13003	2203	4300	6503	226178521	SO:0001583	missense	7483			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.556C>T	1.37:g.228111898G>A	ENSP00000272164:p.Arg186Trp		226178521	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	CCDS31045.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	16.44	3.122813	0.56613	6.81E-4	0.0	ENSG00000143816	ENST00000272164	T	0.77750	-1.12	4.78	1.02	0.19986	.	0.121334	0.51477	D	0.000086	T	0.74703	0.3751	L	0.47716	1.5	0.47994	D	0.999565	D	0.56746	0.977	P	0.51453	0.67	T	0.72033	-0.4412	10	0.87932	D	0	.	8.0885	0.30786	0.0945:0.0:0.2172:0.6882	.	186	O14904	WNT9A_HUMAN	W	186	ENSP00000272164:R186W	ENSP00000272164:R186W	R	-	1	2	WNT9A	226178521	1.000000	0.71417	0.599000	0.28851	0.522000	0.34438	2.155000	0.42301	-0.055000	0.13244	0.491000	0.48974	CGG		0.622	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		A	228111898	G	A	228111898	3	1	79	1	0	0	0	0	1	0	0	0	17398	1144	40	1	549	1	WNT9A	1	228111898	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	2077113	228111898	21138723	17	3981											
SNX17	9784	genome.wustl.edu	37	2	27598394	27598394	+	Silent	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:27598394C>T	ENST00000233575.2	+	10	1018	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	SNX17_ENST00000543024.1_Silent_p.L52L|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Silent_p.L241L|SNX17_ENST00000542478.1_Silent_p.L52L	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	266	FERM-like.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.L266L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCAGACGCTGCGGCACTA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	2											77	70	72					2																	27598394		2203	4300	6503	27451898	SO:0001819	synonymous_variant	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.796C>T	2.37:g.27598394C>T			27451898	B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	37	CCDS1750.1																																																																																				0.577	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		T	27598394	C	T	27598394	2	4	79	1	0	0	0	0	0	0	0	1	14891	796	28	2		2	SNX17	2	27598394	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09		27598394	215600979	18	3982											
FAM98A	25940	genome.wustl.edu	37	2	33817254	33817254	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:33817254A>T	ENST00000238823.8	-	3	370	c.230T>A	c.(229-231)cTt>cAt	p.L77H	FAM98A_ENST00000403368.1_Missense_Mutation_p.L77H|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_De_novo_Start_InFrame			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	77							poly(A) RNA binding (GO:0044822)	p.L77H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACTCACCTCAAGCTGGAATTC	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											146	143	144					2																	33817254		2203	4300	6503	33670758	SO:0001583	missense	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.230T>A	2.37:g.33817254A>T	ENSP00000238823:p.Leu77His		33670758	B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	A	31	5.065070	0.93898	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	T;T	0.52983	0.64;0.64	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75869	-0.3165	10	0.52906	T	0.07	-6.6931	16.6406	0.85098	1.0:0.0:0.0:0.0	.	77	Q8NCA5-2	.	H	77	ENSP00000238823:L77H;ENSP00000384711:L77H	ENSP00000238823:L77H	L	-	2	0	FAM98A	33670758	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.291000	0.96070	2.326000	0.78906	0.533000	0.62120	CTT		0.388	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		T	33817254	A	T	33817254	3	4	79	1	0	0	0	0	1	0	0	0	5656	72	3	5	1350	5	FAM98A	2	33817254	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	6218860	33817254	209382119	19	3983											
CLEC4F	165530	genome.wustl.edu	37	2	71044234	71044234	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:71044234G>T	ENST00000272367.2	-	4	355	c.279C>A	c.(277-279)caC>caA	p.H93Q	CLEC4F_ENST00000426626.1_Missense_Mutation_p.H93Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	93					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.H93Q(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCCTGCCAAAGTGGTGATGAT	0.478																																					Colon(107;10 2157 6841 26035)											1	Substitution - Missense(1)	ovary(1)	2											45	41	43					2																	71044234		2203	4300	6503	70897742	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.279C>A	2.37:g.71044234G>T	ENSP00000272367:p.His93Gln		70897742	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	8.686	0.906195	0.17760	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01572	4.81;4.76	5.04	-3.39	0.04868	.	1.240920	0.05926	N	0.634280	T	0.01489	0.0048	L	0.32530	0.975	0.09310	N	1	B;B	0.19331	0.012;0.035	B;B	0.14578	0.006;0.011	T	0.48736	-0.9009	10	0.41790	T	0.15	.	1.7544	0.02979	0.3985:0.1272:0.3385:0.1359	.	93;93	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	Q	93	ENSP00000272367:H93Q;ENSP00000390581:H93Q	ENSP00000272367:H93Q	H	-	3	2	CLEC4F	70897742	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.739000	0.04866	-0.338000	0.08413	0.467000	0.42956	CAC		0.478	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		T	71044234	G	T	71044234	3	4	79	1	0	0	0	0	1	0	0	0	3516	1020	36	3	1506	3	CLEC4F	2	71044234	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	37226980	71044234	172155139	20	3984											
DQX1	165545	genome.wustl.edu	37	2	74751165	74751165	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:74751165G>A	ENST00000404568.3	-	4	920	c.701C>T	c.(700-702)cCc>cTc	p.P234L	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.P234L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	234						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.P116L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CCAGTAGATGGGGGAAGGTCT	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											72	71	71					2																	74751165		2203	4300	6503	74604673	SO:0001583	missense	165545			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.701C>T	2.37:g.74751165G>A	ENSP00000384621:p.Pro234Leu		74604673	Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	2.287	-0.363371	0.05103	.	.	ENSG00000144045	ENST00000393951;ENST00000404568;ENST00000451518	T;T;T	0.21191	3.2;3.2;2.02	5.38	1.22	0.21188	DEAD-like helicase (1);	0.695877	0.13971	N	0.350163	T	0.13072	0.0317	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25152	-1.0140	10	0.87932	D	0	-20.0491	3.6203	0.08093	0.4228:0.0:0.4066:0.1706	.	234	Q8TE96	DQX1_HUMAN	L	234;234;116	ENSP00000377523:P234L;ENSP00000384621:P234L;ENSP00000392969:P116L	ENSP00000377523:P234L	P	-	2	0	DQX1	74604673	0.004000	0.15560	0.003000	0.11579	0.020000	0.10135	1.354000	0.34056	0.160000	0.19432	0.609000	0.83330	CCC		0.547	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		A	74751165	G	A	74751165	3	1	79	1	0	0	0	0	1	0	0	0	4751	1232	43	2	1488	2	DQX1	2	74751165	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	3706931	74751165	168448208	21	3985											
RMND5A	64795	genome.wustl.edu	37	2	86992174	86992174	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:86992174G>C	ENST00000283632.4	+	5	1041	c.546G>C	c.(544-546)atG>atC	p.M182I		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	182	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.							p.M182I(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						ACCGGGAAATGCTTATAGCTC	0.373																																																1	Substitution - Missense(1)	ovary(1)	2											139	134	136					2																	86992174		2203	4300	6503	86845685	SO:0001583	missense	64795			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog A"					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.546G>C	2.37:g.86992174G>C	ENSP00000283632:p.Met182Ile		86845685	D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156530	0.57259	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.52	5.52	0.82312	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	N	0.14661	0.345	0.51233	D	0.999913	B	0.22211	0.066	B	0.17433	0.018	T	0.40979	-0.9534	9	0.42905	T	0.14	-6.3239	19.434	0.94783	0.0:0.0:1.0:0.0	.	182	Q9H871	RMD5A_HUMAN	I	182	.	ENSP00000283632:M182I	M	+	3	0	RMND5A	86845685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.168000	0.58216	2.590000	0.87494	0.563000	0.77884	ATG		0.373	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		C	86992174	G	C	86992174	3	2	79	1	0	0	0	0	1	0	0	0	13400	1319	46	3	564	3	RMND5A	2	86992174	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	12241009	86992174	156207199	22	3986											
RPIA	22934	genome.wustl.edu	37	2	89028821	89028821	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:89028821G>A	ENST00000283646.4	+	4	483	c.428G>A	c.(427-429)gGc>gAc	p.G143D		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	143					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.G143D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CTGCAGTATGGCTTGACCCTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											73	81	78					2																	89028821		2001	4163	6164	88809936	SO:0001583	missense	22934			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"ribose 5-phosphate epimerase"	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.428G>A	2.37:g.89028821G>A	ENSP00000283646:p.Gly143Asp		88809936	Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	G	31	5.088632	0.94100	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	D	0.81908	-1.55	5.71	5.71	0.89125	.	0.044796	0.85682	D	0.000000	D	0.92456	0.7605	M	0.88181	2.935	0.80722	D	1	D	0.63880	0.993	D	0.66196	0.942	D	0.93085	0.6495	10	0.66056	D	0.02	-17.9864	19.4332	0.94779	0.0:0.0:1.0:0.0	.	143	P49247	RPIA_HUMAN	D	143;9	ENSP00000283646:G143D	ENSP00000283646:G143D	G	+	2	0	RPIA	88809936	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	6.023000	0.70848	2.690000	0.91761	0.655000	0.94253	GGC		0.498	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			A	89028821	G	A	89028821	3	1	79	1	0	0	0	0	1	0	0	0	13556	1203	42	2	442	2	RPIA	2	89028821	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	2036647	89028821	154170552	23	3987											
NR4A2	4929	genome.wustl.edu	37	2	157183361	157183361	+	Silent	SNP	C	C	A	rs139491338		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:157183361C>A	ENST00000339562.4	-	6	1592	c.1230G>T	c.(1228-1230)ctG>ctT	p.L410L	NR4A2_ENST00000409108.2_Silent_p.L410L|NR4A2_ENST00000426264.1_Silent_p.L347L|NR4A2_ENST00000539077.1_Silent_p.L421L|NR4A2_ENST00000409572.1_Silent_p.L410L|NR4A2_ENST00000429376.1_Silent_p.L347L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	410	Ligand-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L410L(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGGAGCCAGTCAGGAGATCAT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	2											109	117	114					2																	157183361		2203	4300	6503	156891607	SO:0001819	synonymous_variant	4929			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1230G>T	2.37:g.157183361C>A			156891607	Q16311|Q53RZ2|Q6NXU0	Silent	SNP	ENST00000339562.4	37	CCDS2201.1																																																																																				0.483	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			A	157183361	C	A	157183361	2	1	79	1	0	0	0	0	0	0	0	1	10633	813	29	3		3	NR4A2	2	157183361	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	68154540	157183361	86016012	24	3988											
TTN	7273	genome.wustl.edu	37	2	179485027	179485027	+	Silent	SNP	G	G	A	rs370808856		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:179485027G>A	ENST00000591111.1	-	198	41522	c.41298C>T	c.(41296-41298)gaC>gaT	p.D13766D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.D6467D|TTN_ENST00000460472.2_Silent_p.D6342D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.D6534D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Silent_p.D15407D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.D12839D|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13766	Ig-like 94.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D12839D(1)|p.D6342D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAGACAGCGTCATCGAACT	0.433																																																2	Substitution - coding silent(2)	ovary(2)	2						G	,,,	1,3743		0,1,1871	110	107	108		19026,38517,19401,19602	-0.6	1	2		108	1,8215		0,1,4107	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,5978	AA,AG,GG		0.0122,0.0267,0.0167	,,,	6342/26927,12839/33424,6467/27052,6534/27119	179485027	2,11958	1872	4108	5980	179193272	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41298C>T	2.37:g.179485027G>A			179193272	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179485027	G	A	179485027	2	1	79	1	0	0	0	0	0	0	0	1	16735	1136	40	1		1	TTN	2	179485027	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	22301666	179485027	63714346	25	3989											
TTN	7273	genome.wustl.edu	37	2	179498582	179498582	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:179498582A>T	ENST00000591111.1	-	181	37945	c.37721T>A	c.(37720-37722)gTc>gAc	p.V12574D	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5275D|TTN_ENST00000460472.2_Missense_Mutation_p.V5150D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5342D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V14215D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11647D			Q8WZ42	TITIN_HUMAN	titin	12574	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V11647D(1)|p.V5150D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTCCTTGACTTGAGCTTT	0.413																																																2	Substitution - Missense(2)	ovary(2)	2											223	211	215					2																	179498582		1892	4115	6007	179206827	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37721T>A	2.37:g.179498582A>T	ENSP00000465570:p.Val12574Asp		179206827	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	11.75	1.732547	0.30684	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83036	0.5167	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	P;P;P;P	0.61658	0.892;0.892;0.892;0.892	D	0.85336	0.1093	9	0.87932	D	0	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	5150;5275;5342;12574	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	11647;5150;5342;5275;5150	ENSP00000343764:V11647D;ENSP00000434586:V5150D;ENSP00000340554:V5342D;ENSP00000352154:V5275D	ENSP00000340554:V5342D	V	-	2	0	TTN	179206827	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.082000	0.76851	2.270000	0.75569	0.460000	0.39030	GTC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179498582	A	T	179498582	3	4	79	1	0	0	0	0	1	0	0	0	16735	275	10	5	65577	5	TTN	2	179498582	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	13555	179498582	63700791	26	3990											
TTN	7273	genome.wustl.edu	37	2	179613555	179613555	+	Intron	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:179613555A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Silent_p.D4524D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D4524D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTAGATGAATCTGATTCAG	0.323																																																1	Substitution - coding silent(1)	ovary(1)	2											106	104	105					2																	179613555		2203	4297	6500	179321800	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4295T>C	2.37:g.179613555A>G			179321800	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179613555	A	G	179613555	1	3	79	0	1	0	0	0	0	0	0	0	16735	98	4	4		4	TTN	2	179613555	Intron	SNP	A	TCGA-13-0760-01A-01W-0372-09	114973	179613555	63585818	27	3991											
SPEG	10290	genome.wustl.edu	37	2	220315878	220315910	+	In_Frame_Del	DEL	GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	-	rs375953839|rs368756743		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	-	GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:220315878_220315910delGTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	ENST00000312358.7	+	5	2266_2298	c.2134_2166delGTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	c.(2134-2166)gtgtccgctggagaagagcccctagaggcccctdel	p.VSAGEEPLEAP712del	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_In_Frame_Del_p.VSAGEEPLEAP608del|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	712					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G715V(1)|p.V712_P722del(1)|p.S713P(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGACTCCTACGTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCTGTGTTTGAGA	0.609																																																3	Substitution - Missense(2)|Deletion - In frame(1)	ovary(1)|lung(1)|large_intestine(1)	2																																								220024154	SO:0001651	inframe_deletion	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2134_2166delGTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	2.37:g.220315878_220315910delGTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	ENSP00000311684:p.Val712_Pro722del		220024122	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	In_Frame_Del	DEL	ENST00000312358.7	37	CCDS42824.1																																																																																				0.609	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		-	220315910	GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	-	220315878	7	5	79	1	0	1	0	1	0	0	0	0	15038	1145	40	0	2152	0	SPEG	2	220315878	In_Frame_Del	DEL	GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT	TCGA-13-0760-01A-01W-0372-09	40702323	220315878	22883495	28	3992											
SP110	3431	genome.wustl.edu	37	2	231077539	231077539	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr2:231077539G>C	ENST00000358662.4	-	4	598	c.520C>G	c.(520-522)Ccc>Gcc	p.P174A	SP110_ENST00000338556.3_5'UTR|SP110_ENST00000258382.5_Missense_Mutation_p.P174A|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000540870.1_Missense_Mutation_p.P180A|SP110_ENST00000258381.6_Missense_Mutation_p.P174A|SP110_ENST00000392048.3_Missense_Mutation_p.P174A	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	174					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.P174A(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GATGGGCTGGGCGACTCACTC	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											168	163	165					2																	231077539		2203	4300	6503	230785783	SO:0001583	missense	3431			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.520C>G	2.37:g.231077539G>C	ENSP00000351488:p.Pro174Ala		230785783	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420042	0.25552	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000409815;ENST00000455674	T;T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08;3.08	3.78	-0.304	0.12788	.	0.441505	0.16846	N	0.197160	T	0.07773	0.0195	L	0.58101	1.795	0.09310	N	0.999998	B;B;P;P	0.48834	0.192;0.192;0.916;0.838	B;B;B;P	0.45099	0.065;0.065;0.312;0.469	T	0.26849	-1.0091	10	0.11182	T	0.66	.	3.6929	0.08353	0.3437:0.1872:0.469:0.0	.	174;180;174;174	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	A	174;174;174;174;180;174;128	ENSP00000258381:P174A;ENSP00000351488:P174A;ENSP00000375902:P174A;ENSP00000258382:P174A;ENSP00000439558:P180A;ENSP00000387172:P174A;ENSP00000393992:P128A	ENSP00000258381:P174A	P	-	1	0	SP110	230785783	0.027000	0.19231	0.001000	0.08648	0.054000	0.15201	0.356000	0.20181	-0.081000	0.12662	0.650000	0.86243	CCC		0.562	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		C	231077539	G	C	231077539	3	2	79	1	0	0	0	0	1	0	0	0	14964	1203	42	3	1749	3	SP110	2	231077539	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	10761661	231077539	12121834	29	3993											
EOMES	8320	genome.wustl.edu	37	3	27758785	27758785	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr3:27758785C>A	ENST00000295743.4	-	6	2040	c.1837G>T	c.(1837-1839)Gaa>Taa	p.E613*	EOMES_ENST00000449599.1_Nonsense_Mutation_p.E632*|EOMES_ENST00000537516.1_Nonsense_Mutation_p.E337*|EOMES_ENST00000461503.1_5'Flank			O95936	EOMES_HUMAN	eomesodermin	613	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E613*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAGCCAATTTCCTCTTTCACT	0.483																																																1	Substitution - Nonsense(1)	ovary(1)	3											106	110	108					3																	27758785		2203	4300	6503	27733789	SO:0001587	stop_gained	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1837G>T	3.37:g.27758785C>A	ENSP00000295743:p.Glu613*		27733789	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Nonsense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	38	6.937863	0.97948	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	.	.	.	5.05	5.05	0.67936	.	1.966750	0.02853	N	0.129301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.3091	0.94177	0.0:1.0:0.0:0.0	.	.	.	.	X	613;632;337;497	.	ENSP00000295743:E613X	E	-	1	0	EOMES	27733789	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.665000	0.68052	2.724000	0.93272	0.563000	0.77884	GAA		0.483	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		A	27758785	C	A	27758785	4	1	79	1	0	0	0	0	0	1	0	0	5147	864	30	3	227	3	EOMES	3	27758785	Nonsense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09		27758785	170263645	30	3994											
ZNF860	344787	genome.wustl.edu	37	3	32030804	32030804	+	Missense_Mutation	SNP	C	C	T	rs374760869		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr3:32030804C>T	ENST00000360311.4	+	2	782	c.233C>T	c.(232-234)gCg>gTg	p.A78V		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A78V(1)		endometrium(3)|lung(4)|ovary(1)	8						TCATCAACAGCGCAAGGCAAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	3											86	68	74					3																	32030804		692	1591	2283	32005808	SO:0001583	missense	344787			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.233C>T	3.37:g.32030804C>T	ENSP00000373274:p.Ala78Val		32005808	B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	c	2.551	-0.304007	0.05495	.	.	ENSG00000197385	ENST00000360311	T	0.04862	3.54	0.345	-0.691	0.11305	Krueppel-associated box (3);	.	.	.	.	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	B	0.19706	0.038	B	0.12837	0.008	T	0.45308	-0.9270	8	.	.	.	.	3.4544	0.07510	0.2353:0.2636:0.501:0.0	.	78	A6NHJ4	ZN860_HUMAN	V	78	ENSP00000373274:A78V	.	A	+	2	0	ZNF860	32005808	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.762000	0.04745	-1.862000	0.01151	-1.781000	0.00649	GCG		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			T	32030804	C	T	32030804	3	4	79	1	0	0	0	0	1	0	0	0	18194	768	27	1	235	1	ZNF860	3	32030804	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	4272019	32030804	165991626	31	3995											
DCLK3	85443	genome.wustl.edu	37	3	36756992	36756992	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr3:36756992G>A	ENST00000416516.2	-	5	2264	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	592	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R592W(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCAGCAACCGGCTCACCAGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											79	79	79					3																	36756992		1938	4127	6065	36731996	SO:0001583	missense	85443			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1774C>T	3.37:g.36756992G>A	ENSP00000394484:p.Arg592Trp		36731996		Missense_Mutation	SNP	ENST00000416516.2	37	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004690	0.74932	.	.	ENSG00000163673	ENST00000416516	T	0.67345	-0.26	5.75	3.79	0.43588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.294650	0.06098	N	0.664791	T	0.75042	0.3796	L	0.48260	1.515	0.27854	N	0.940652	D	0.76494	0.999	P	0.57244	0.816	T	0.63703	-0.6577	10	0.87932	D	0	.	12.7537	0.57321	0.0:0.0:0.476:0.524	.	592	Q9C098	DCLK3_HUMAN	W	592	ENSP00000394484:R592W	ENSP00000394484:R592W	R	-	1	2	DCLK3	36731996	0.955000	0.32602	0.921000	0.36526	0.894000	0.52154	1.455000	0.35190	1.515000	0.48885	0.655000	0.94253	CGG		0.473	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		A	36756992	G	A	36756992	3	1	79	1	0	0	0	0	1	0	0	0	4293	1115	39	1	176	1	DCLK3	3	36756992	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	4726188	36756992	161265438	32	3996											
GOLGB1	2804	genome.wustl.edu	37	3	121415560	121415560	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr3:121415560T>A	ENST00000340645.5	-	13	3920	c.3795A>T	c.(3793-3795)gaA>gaT	p.E1265D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1270D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1265					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1265D(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGAATAAAGGTTCTTCTAAAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											169	155	160					3																	121415560		2203	4300	6503	122898250	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3795A>T	3.37:g.121415560T>A	ENSP00000341848:p.Glu1265Asp		122898250	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	5.045	0.194065	0.09599	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.26373	2.34;2.34;1.74	5.46	-3.72	0.04411	.	0.733181	0.12618	N	0.453255	T	0.15955	0.0384	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.003;0.003;0.003;0.003	T	0.35325	-0.9793	10	0.14252	T	0.57	.	1.9448	0.03354	0.1308:0.1537:0.3525:0.3629	.	1190;1229;1270;1270;1265	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	D	1265;1270;1229	ENSP00000341848:E1265D;ENSP00000377275:E1270D;ENSP00000418231:E1229D	ENSP00000341848:E1265D	E	-	3	2	GOLGB1	122898250	0.000000	0.05858	0.085000	0.20634	0.438000	0.31896	-0.839000	0.04368	-0.223000	0.09943	0.533000	0.62120	GAA		0.473	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121415560	T	A	121415560	3	1	79	1	0	0	0	0	1	0	0	0	6565	1722	60	5	6024	5	GOLGB1	3	121415560	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	84658568	121415560	76606870	33	3997											
FAM162A	26355	genome.wustl.edu	37	3	122123190	122123190	+	Silent	SNP	T	T	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr3:122123190T>C	ENST00000477892.1	+	3	327	c.243T>C	c.(241-243)gaT>gaC	p.D81D	FAM162A_ENST00000232125.5_Silent_p.D71D|FAM162A_ENST00000469967.1_Silent_p.D81D	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	81	Required for proapoptotic activity.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.D81D(2)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AAAAGGAAGATGAAATCCCAG	0.418																																																2	Substitution - coding silent(2)	ovary(2)	3											85	83	84					3																	122123190		1902	4120	6022	123605880	SO:0001819	synonymous_variant	26355			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.243T>C	3.37:g.122123190T>C			123605880	Q9NRN6|Q9UJX8	Silent	SNP	ENST00000477892.1	37	CCDS43139.1																																																																																				0.418	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		C	122123190	T	C	122123190	2	2	79	1	0	0	0	0	0	0	0	1	5474	1461	51	4		4	FAM162A	3	122123190	Silent	SNP	T	TCGA-13-0760-01A-01W-0372-09	707630	122123190	75899240	34	3998											
SEMA5B	54437	genome.wustl.edu	37	3	122679987	122679987	+	Splice_Site	SNP	C	C	A	rs148102705	byFrequency	TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr3:122679987C>A	ENST00000357599.3	-	2	510	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C	SEMA5B_ENST00000195173.4_Splice_Site_p.G42C|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000451055.2_Splice_Site_p.G96C	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	42			G -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G42C(1)|p.G42S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCACACTTACCCCTGACCAGT	0.627																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	3											64	53	57					3																	122679987		2203	4300	6503	124162677	SO:0001630	splice_region_variant	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.124+1G>T	3.37:g.122679987C>A			124162677	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651085	0.29336	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000451055;ENST00000393583;ENST00000421053;ENST00000449546	T;T;T;T	0.38401	1.22;1.14;1.19;1.32	4.38	2.58	0.30949	.	.	.	.	.	T	0.19525	0.0469	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	P	0.44518	0.452	T	0.05517	-1.0880	8	.	.	.	.	6.952	0.24550	0.0:0.7893:0.0:0.2107	.	42	Q9P283	SEM5B_HUMAN	C	42;42;96;42;42;42	ENSP00000350215:G42C;ENSP00000195173:G42C;ENSP00000389588:G96C;ENSP00000377208:G42C	.	G	-	1	0	SEMA5B	124162677	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	0.201000	0.17276	0.482000	0.27582	0.655000	0.94253	GGT		0.627	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	Missense_Mutation	A	122679987	C	A	122679987	5	1	79	1	0	0	0	0	0	0	1	0	14041	637	22	3	3419	3	SEMA5B	3	122679987	Splice_Site	SNP	C	TCGA-13-0760-01A-01W-0372-09	556797	122679987	75342443	35	3999											
PIK3R4	30849	genome.wustl.edu	37	3	130405249	130405249	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr3:130405249T>G	ENST00000356763.3	-	15	3838	c.3281A>C	c.(3280-3282)gAg>gCg	p.E1094A	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1094					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1094A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ACAACCGTCCTCCTTCTGATC	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											119	107	112					3																	130405249		2203	4300	6503	131887939	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3281A>C	3.37:g.130405249T>G	ENSP00000349205:p.Glu1094Ala		131887939	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155066	0.57259	.	.	ENSG00000196455	ENST00000356763	T	0.01295	5.04	5.13	5.13	0.70059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.316182	0.36703	N	0.002455	T	0.02193	0.0068	M	0.61703	1.905	0.58432	D	0.99999	P	0.40066	0.701	B	0.35770	0.21	T	0.64236	-0.6455	10	0.14252	T	0.57	-8.5947	15.2302	0.73381	0.0:0.0:0.0:1.0	.	1094	Q99570	PI3R4_HUMAN	A	1094	ENSP00000349205:E1094A	ENSP00000349205:E1094A	E	-	2	0	PIK3R4	131887939	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	7.545000	0.82128	2.078000	0.62432	0.459000	0.35465	GAG		0.443	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		G	130405249	T	G	130405249	3	3	79	1	0	0	0	0	1	0	0	0	11921	1551	54	5	819	5	PIK3R4	3	130405249	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	7725262	130405249	67617181	36	4000											
TMEM108	66000	genome.wustl.edu	37	3	133099844	133099844	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr3:133099844T>A	ENST00000321871.6	+	4	1499	c.1289T>A	c.(1288-1290)cTc>cAc	p.L430H	TMEM108_ENST00000515826.1_Missense_Mutation_p.L430H|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.L430H	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	430						integral component of membrane (GO:0016021)		p.L430H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCAATTTCCTCAACCGCCTG	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											52	57	55					3																	133099844		2203	4300	6503	134582534	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1289T>A	3.37:g.133099844T>A	ENSP00000324651:p.Leu430His		134582534	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862577	0.71949	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.60424	0.32;0.32;0.19	3.66	3.66	0.41972	.	0.111282	0.36374	N	0.002637	T	0.70631	0.3246	L	0.60455	1.87	0.47547	D	0.999456	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74334	-0.3699	10	0.87932	D	0	-19.1789	12.7537	0.57321	0.0:0.0:0.0:1.0	.	430;430	E9PB58;Q6UXF1	.;TM108_HUMAN	H	430	ENSP00000324651:L430H;ENSP00000376838:L430H;ENSP00000423338:L430H	ENSP00000324651:L430H	L	+	2	0	TMEM108	134582534	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.647000	0.67923	1.665000	0.50811	0.459000	0.35465	CTC		0.627	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		A	133099844	T	A	133099844	3	1	79	1	0	0	0	0	1	0	0	0	16024	1551	54	5	1295	5	TMEM108	3	133099844	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	2694595	133099844	64922586	37	4001											
ATR	545	genome.wustl.edu	37	3	142204036	142204036	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr3:142204036T>A	ENST00000350721.4	-	36	6288	c.6167A>T	c.(6166-6168)aAc>aTc	p.N2056I	ATR_ENST00000383101.3_Missense_Mutation_p.N1992I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2056	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N2056I(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCCATTTTGTTGTCTGTGAC	0.413								Other conserved DNA damage response genes																																								1	Substitution - Missense(1)	ovary(1)	3											190	177	182					3																	142204036		2203	4300	6503	143686726	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6167A>T	3.37:g.142204036T>A	ENSP00000343741:p.Asn2056Ile		143686726	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.880304	0.91740	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.69926	-0.44;-0.44	5.2	5.2	0.72013	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.043992	0.85682	D	0.000000	T	0.76912	0.4054	M	0.66939	2.045	0.80722	D	1	D	0.60575	0.988	P	0.57846	0.828	T	0.79495	-0.1780	10	0.59425	D	0.04	-9.143	15.343	0.74311	0.0:0.0:0.0:1.0	.	2056	Q13535	ATR_HUMAN	I	2056;1992	ENSP00000343741:N2056I;ENSP00000372581:N1992I	ENSP00000343741:N2056I	N	-	2	0	ATR	143686726	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.864000	0.87037	2.088000	0.63022	0.377000	0.23210	AAC		0.413	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142204036	T	A	142204036	3	1	79	1	0	0	0	0	1	0	0	0	1204	1725	60	5	1815	5	ATR	3	142204036	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	9104192	142204036	55818394	38	4002											
TBC1D14	57533	genome.wustl.edu	37	4	6995910	6995910	+	Splice_Site	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:6995910G>C	ENST00000409757.4	+	4	967		c.e4-1		TBC1D14_ENST00000448507.1_Splice_Site|AC097382.5_ENST00000441093.1_RNA|RN7SKP292_ENST00000365522.1_RNA|TBC1D14_ENST00000451522.2_Splice_Site|TBC1D14_ENST00000410031.1_Splice_Site	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14						negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.?(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ctttgtcctaggaatatgaag	0.443																																																1	Unknown(1)	ovary(1)	4											113	106	108					4																	6995910		2203	4300	6503	7046811	SO:0001630	splice_region_variant	57533			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.844-1G>C	4.37:g.6995910G>C			7046811	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Splice_Site	SNP	ENST00000409757.4	37	CCDS3394.2																																																																																				0.443	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773	Intron	C	6995910	G	C	6995910	5	2	79	1	0	0	0	0	0	0	1	0	15603	1014	35	3	860	3	TBC1D14	4	6995910	Splice_Site	SNP	G	TCGA-13-0760-01A-01W-0372-09		6995910	184158366	39	4003											
CPZ	8532	genome.wustl.edu	37	4	8608994	8608994	+	Splice_Site	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:8608994G>T	ENST00000360986.4	+	7	1243	c.1069G>T	c.(1069-1071)Gtg>Ttg	p.V357L	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Splice_Site_p.V346L|CPZ_ENST00000382480.2_Splice_Site_p.V220L	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	357					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.V357L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCCTGGGCAGGTGGCCCCGGA	0.637																																																1	Substitution - Missense(1)	ovary(1)	4											114	109	111					4																	8608994		2203	4300	6503	8659894	SO:0001630	splice_region_variant	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1069-1G>T	4.37:g.8608994G>T			8659894	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.159786	0.78226	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03181	4.02;4.02;4.02	3.83	3.83	0.44106	Peptidase M14, carboxypeptidase A (2);	0.072475	0.56097	U	0.000036	T	0.08758	0.0217	L	0.42529	1.33	0.80722	D	1	D;D	0.60160	0.975;0.987	P;P	0.60886	0.725;0.88	T	0.22487	-1.0215	9	.	.	.	-34.3444	9.6335	0.39793	0.0984:0.0:0.9016:0.0	.	346;357	Q66K79-2;Q66K79	.;CBPZ_HUMAN	L	357;220;346	ENSP00000354255:V357L;ENSP00000371920:V220L;ENSP00000315074:V346L	.	V	+	1	0	CPZ	8659894	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.869000	0.69613	1.681000	0.50988	0.450000	0.29827	GTG		0.637	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	Missense_Mutation	T	8608994	G	T	8608994	5	4	79	1	0	0	0	0	0	0	1	0	3839	1275	44	3	1095	3	CPZ	4	8608994	Splice_Site	SNP	G	TCGA-13-0760-01A-01W-0372-09	1613084	8608994	182545282	40	4004											
KCNIP4	80333	genome.wustl.edu	37	4	20884250	20884250	+	Silent	SNP	C	C	T	rs368526954		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:20884250C>T	ENST00000382152.2	-	2	311	c.144G>A	c.(142-144)acG>acA	p.T48T	KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000447367.2_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	48						dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CAGGAGACGACGTTTTGGCAG	0.448																																																0			4						C	,,,,	1,3933		0,1,1966	85	84	84		,144,,,	-4.9	0.9	4		84	0,8358		0,0,4179	no	intron,coding-synonymous,intron,intron,intron	KCNIP4	NM_001035003.1,NM_025221.5,NM_147181.3,NM_147182.3,NM_147183.3	,,,,	0,1,6145	TT,TC,CC		0.0,0.0254,0.0081	,,,,	,48/251,,,	20884250	1,12291	1967	4179	6146	20493348	SO:0001819	synonymous_variant	80333			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.144G>A	4.37:g.20884250C>T			20493348	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Silent	SNP	ENST00000382152.2	37	CCDS43216.1																																																																																				0.448	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		T	20884250	C	T	20884250	2	4	79	1	0	0	0	0	0	0	0	1	8042	523	19	1		1	KCNIP4	4	20884250	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	12275256	20884250	170270026	41	4005											
CNGA1	1259	genome.wustl.edu	37	4	47939444	47939455	+	In_Frame_Del	DEL	GACCAGTAAAGG	GACCAGTAAAGG	TA			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	GACCAGTAAAGG	GACCAGTAAAGG	GACCAGTAAAGG	TA	GACCAGTAAAGG	GACCAGTAAAGG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:47939444_47939455delGACCAGTAAAGG	ENST00000514170.1	-	11	1375_1386	c.1056_1067delCCTTTACTGGTC	c.(1054-1068)agcctttactggtct>agt	p.352_356SLYWS>S	CNGA1_ENST00000420489.2_In_Frame_Del_p.352_356SLYWS>S|CNGA1_ENST00000402813.3_In_Frame_Del_p.421_425SLYWS>S|CNGA1_ENST00000544810.1_In_Frame_Del_p.352_356SLYWS>S|CNGA1_ENST00000358519.4_In_Frame_Del_p.352_356SLYWS>S			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	352					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AGTCAGTGTAGACCAGTAAAGGCTGTATACGT	0.396																																																0			4																																								47634212	SO:0001651	inframe_deletion	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1056_1067delCCTTTACTGGTC	4.37:g.47939444_47939455delGACCAGTAAAGG	ENSP00000426862:p.Ser352_Trp355del		47634201	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Frame_Shift_Del	DEL	ENST00000514170.1	37	CCDS43226.1																																																																																				0.396	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		TA	47939455	GACCAGTAAAGG	TA	47939444	7	5	79	1	0	1	0	1	0	0	0	0	3596	942	33	0	1009	0	CNGA1	4	47939444	In_Frame_Del	DEL	GACCAGTAAAGG	TCGA-13-0760-01A-01W-0372-09	27055194	47939444	143214832	42	4006											
FIP1L1	81608	genome.wustl.edu	37	4	54256783	54256783	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:54256783T>A	ENST00000337488.6	+	7	687	c.493T>A	c.(493-495)Tgg>Agg	p.W165R	FIP1L1_ENST00000507166.1_Missense_Mutation_p.W165R|FIP1L1_ENST00000358575.5_Missense_Mutation_p.W150R|FIP1L1_ENST00000306932.6_Missense_Mutation_p.W150R|FIP1L1_ENST00000507922.1_Missense_Mutation_p.W150R	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	165	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.W165R(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGATAAACCATGGCGTAAACC	0.323			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	1	Substitution - Missense(1)	ovary(1)	4											96	95	95					4																	54256783		2203	4300	6503	53951540	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.493T>A	4.37:g.54256783T>A	ENSP00000336752:p.Trp165Arg		53951540	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865989	0.71949	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	D	0.99748	-6.62	5.43	5.43	0.79202	Pre-mRNA polyadenylation factor Fip1 (1);	0.000000	0.64402	D	0.000004	D	0.99816	0.9919	H	0.96430	3.82	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;1.0;1.0	D	0.96749	0.9552	9	.	.	.	-5.8529	15.4589	0.75339	0.0:0.0:0.0:1.0	.	150;150;165;150	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	R	165;150;150;150;165	ENSP00000423325:W165R	.	W	+	1	0	FIP1L1	53951540	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.662000	0.83803	2.048000	0.60808	0.482000	0.46254	TGG		0.323	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		A	54256783	T	A	54256783	3	1	79	1	0	0	0	0	1	0	0	0	5896	1464	51	5	519	5	FIP1L1	4	54256783	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	6317339	54256783	136897493	43	4007											
ALB	213	genome.wustl.edu	37	4	74275110	74275110	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:74275110A>T	ENST00000503124.1	+	3	278	c.71A>T	c.(70-72)tAt>tTt	p.Y24F	ALB_ENST00000401494.3_Missense_Mutation_p.Y59F|ALB_ENST00000509063.1_Missense_Mutation_p.Y174F|ALB_ENST00000415165.2_Intron|ALB_ENST00000295897.4_Missense_Mutation_p.Y174F|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.Y174F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTTACTTTTATGCCCCGGAA	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											68	73	71					4																	74275110		2203	4299	6502	74493974	SO:0001583	missense	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.71A>T	4.37:g.74275110A>T	ENSP00000421027:p.Tyr24Phe		74493974	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.16|17.16	3.318335|3.318335	0.60524|0.60524	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000511370|ENST00000441319;ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	.|T;T;T;T;T	.|0.74421	.|-0.84;-0.84;0.9;-0.84;0.9	5.55|5.55	3.09|3.09	0.35607|0.35607	.|Serum albumin-like (1);Serum albumin, N-terminal (3);	.|0.159919	.|0.44097	.|D	.|0.000493	T|T	0.75398|0.75398	0.3844|0.3844	L|L	0.55990|0.55990	1.75|1.75	0.40230|0.40230	D|D	0.977831|0.977831	.|B;B;B;P	.|0.36110	.|0.037;0.141;0.379;0.537	.|B;B;B;P	.|0.47673	.|0.135;0.157;0.311;0.554	T|T	0.77250|0.77250	-0.2657|-0.2657	5|10	.|0.87932	.|D	.|0	-32.146|-32.146	9.4321|9.4321	0.38617|0.38617	0.8506:0.0:0.1494:0.0|0.8506:0.0:0.1494:0.0	.|.	.|59;24;174;174	.|B7WNR0;D6RHD5;A6NBZ8;P02768	.|.;.;.;ALBU_HUMAN	F|F	18|176;174;24;174;59;183	.|ENSP00000392541:Y176F;ENSP00000295897:Y174F;ENSP00000421027:Y24F;ENSP00000422784:Y174F;ENSP00000384695:Y59F	.|ENSP00000295897:Y174F	L|Y	+|+	3|2	2|0	ALB|ALB	74493974|74493974	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.930000|0.930000	0.56654|0.56654	2.134000|2.134000	0.42102|0.42102	1.131000|1.131000	0.42111|0.42111	0.482000|0.482000	0.46254|0.46254	TTA|TAT		0.348	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		T	74275110	A	T	74275110	3	4	79	1	0	0	0	0	1	0	0	0	486	449	16	5	539	5	ALB	4	74275110	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	20018327	74275110	116879166	44	4008											
PTPN13	5783	genome.wustl.edu	37	4	87680198	87680198	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:87680198C>G	ENST00000411767.2	+	23	3588	c.3525C>G	c.(3523-3525)atC>atG	p.I1175M	PTPN13_ENST00000427191.2_Missense_Mutation_p.I1156M|PTPN13_ENST00000316707.6_Missense_Mutation_p.I984M|PTPN13_ENST00000436978.1_Missense_Mutation_p.I1175M|PTPN13_ENST00000511467.1_Missense_Mutation_p.I1175M			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1175	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.I1175M(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACTTGTTATCTCTCAGCCAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											85	88	87					4																	87680198		2030	4206	6236	87899222	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3525C>G	4.37:g.87680198C>G	ENSP00000407249:p.Ile1175Met		87899222	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112105	0.56398	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.42	4.58	0.56647	PDZ/DHR/GLGF (4);	0.000000	0.51477	D	0.000087	T	0.63510	0.2517	M	0.73598	2.24	0.40845	D	0.983707	D;D;D;D	0.67145	0.996;0.991;0.993;0.982	D;P;D;D	0.70935	0.931;0.906;0.971;0.939	T	0.67138	-0.5746	10	0.72032	D	0.01	.	7.3313	0.26584	0.0:0.7136:0.1391:0.1474	.	984;1156;1175;1175	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	M	1156;1175;984;1175;1175;1124	ENSP00000408368:I1156M;ENSP00000394794:I1175M;ENSP00000322675:I984M;ENSP00000407249:I1175M;ENSP00000426626:I1175M	ENSP00000322675:I984M	I	+	3	3	PTPN13	87899222	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.417000	0.21214	1.421000	0.47157	0.585000	0.79938	ATC		0.378	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			G	87680198	C	G	87680198	3	3	79	1	0	0	0	0	1	0	0	0	12785	903	32	3	3611	3	PTPN13	4	87680198	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	13405088	87680198	103474078	45	4009											
KIAA0922	23240	genome.wustl.edu	37	4	154502585	154502585	+	Silent	SNP	T	T	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:154502585T>G	ENST00000409663.3	+	9	817	c.765T>G	c.(763-765)gtT>gtG	p.V255V	KIAA0922_ENST00000440693.1_Silent_p.V255V|KIAA0922_ENST00000409959.3_Silent_p.V255V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	255						integral component of membrane (GO:0016021)		p.V107V(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGATGATGTTTTGCGTCTAC	0.333																																																1	Substitution - coding silent(1)	ovary(1)	4											114	113	113					4																	154502585		2203	4300	6503	154722035	SO:0001819	synonymous_variant	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.765T>G	4.37:g.154502585T>G			154722035	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	CCDS3783.2																																																																																				0.333	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		G	154502585	T	G	154502585	2	3	79	1	0	0	0	0	0	0	0	1	8201	1828	64	5		5	KIAA0922	4	154502585	Silent	SNP	T	TCGA-13-0760-01A-01W-0372-09	66822387	154502585	36651691	46	4010											
ING2	3622	genome.wustl.edu	37	4	184432021	184432021	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:184432021G>T	ENST00000302327.3	+	2	961	c.759G>T	c.(757-759)tgG>tgT	p.W253C	ING2_ENST00000434682.2_Missense_Mutation_p.W213C	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	253					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.W253C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGGGGAAATGGTATTGCCCAA	0.388																																																1	Substitution - Missense(1)	ovary(1)	4											82	79	80					4																	184432021		2203	4300	6503	184669015	SO:0001583	missense	3622			AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"Zinc fingers, PHD-type"	6063	protein-coding gene	gene with protein product		604215	"inhibitor of growth family, member 1-like"	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.759G>T	4.37:g.184432021G>T	ENSP00000307183:p.Trp253Cys		184669015	B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222526	0.58668	.	.	ENSG00000168556	ENST00000302327;ENST00000434682	D;D	0.92348	-3.02;-3.02	5.45	5.45	0.79879	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.160978	0.64402	D	0.000020	D	0.98333	0.9447	H	0.99830	4.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99285	1.0897	10	0.87932	D	0	-15.2284	19.4782	0.94998	0.0:0.0:1.0:0.0	.	213;253	B6ZDS1;Q9H160	.;ING2_HUMAN	C	253;213	ENSP00000307183:W253C;ENSP00000412586:W213C	ENSP00000307183:W253C	W	+	3	0	ING2	184669015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.838000	0.97847	0.655000	0.94253	TGG		0.388	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		T	184432021	G	T	184432021	3	4	79	1	0	0	0	0	1	0	0	0	7736	1270	44	3	765	3	ING2	4	184432021	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	29929436	184432021	6722255	47	4011											
TLR3	7098	genome.wustl.edu	37	4	187003624	187003624	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr4:187003624A>G	ENST00000296795.3	+	4	888	c.784A>G	c.(784-786)Acc>Gcc	p.T262A	TLR3_ENST00000508051.1_3'UTR|TLR3_ENST00000504367.1_5'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	262					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T262A(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CCAGCTGTCCACCACCAGCAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	4											127	119	122					4																	187003624		2203	4300	6503	187240618	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.784A>G	4.37:g.187003624A>G	ENSP00000296795:p.Thr262Ala		187240618	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	A	0.086	-1.174847	0.01646	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.79749	-1.3;-1.3	5.42	-0.179	0.13299	.	0.961599	0.08728	N	0.902533	T	0.67192	0.2867	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.46624	-0.9178	10	0.16896	T	0.51	.	2.8145	0.05452	0.4079:0.3444:0.1467:0.101	.	262	O15455	TLR3_HUMAN	A	262	ENSP00000296795:T262A;ENSP00000423386:T262A	ENSP00000296795:T262A	T	+	1	0	TLR3	187240618	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	0.635000	0.24629	0.105000	0.17753	-0.621000	0.04028	ACC		0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			G	187003624	A	G	187003624	3	3	79	1	0	0	0	0	1	0	0	0	15952	159	6	4	794	4	TLR3	4	187003624	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	2571603	187003624	4150652	48	4012											
TERT	7015	genome.wustl.edu	37	5	1280401	1280401	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr5:1280401G>T	ENST00000310581.5	-	4	1879	c.1822C>A	c.(1822-1824)Cag>Aag	p.Q608K	TERT_ENST00000508104.2_Missense_Mutation_p.Q608K|TERT_ENST00000334602.6_Missense_Mutation_p.Q608K|TERT_ENST00000296820.5_Missense_Mutation_p.Q608K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	608	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.Q608K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TCCCGATGCTGCCTGACCTCT	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							1	Substitution - Missense(1)	ovary(1)	5											70	66	67					5																	1280401		2203	4300	6503	1333401	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1822C>A	5.37:g.1280401G>T	ENSP00000309572:p.Gln608Lys		1333401	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	4.293	0.053575	0.08291	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96459	-4.02;-4.01;-3.93;-4.01	4.48	2.49	0.30216	Reverse transcriptase (1);	1.154310	0.06294	N	0.699625	D	0.90380	0.6989	N	0.20685	0.6	0.09310	N	1	B;B;B	0.20780	0.048;0.022;0.028	B;B;B	0.19148	0.024;0.008;0.011	T	0.80533	-0.1340	10	0.07813	T	0.8	-3.6603	6.5739	0.22553	0.0:0.1686:0.447:0.3843	.	608;608;608	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	K	608	ENSP00000309572:Q608K;ENSP00000296820:Q608K;ENSP00000334346:Q608K;ENSP00000426042:Q608K	ENSP00000296820:Q608K	Q	-	1	0	TERT	1333401	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.424000	0.21330	0.828000	0.34709	0.407000	0.27541	CAG		0.622	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			T	1280401	G	T	1280401	3	4	79	1	0	0	0	0	1	0	0	0	15764	1328	46	3	1628	3	TERT	5	1280401	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09		1280401	179634859	49	4013											
IL3	3562	genome.wustl.edu	37	5	131398245	131398245	+	Silent	SNP	C	C	A	rs372658151		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr5:131398245C>A	ENST00000296870.2	+	4	499	c.321C>A	c.(319-321)gcC>gcA	p.A107A		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	107					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)	p.A107A(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TGCCCCTGGCCACGGCCGCAC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	5											192	189	190					5																	131398245		2203	4300	6503	131426144	SO:0001819	synonymous_variant	3562			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"Interleukins and interleukin receptors"	6011	protein-coding gene	gene with protein product	"multilineage-colony-stimulating factor", "hematopoietic growth factor", "P-cell stimulating factor", "mast-cell growth factor", "colony-stimulating factor, multiple"	147740	"interleukin 3 (colony-stimulating factor, multiple)"			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.321C>A	5.37:g.131398245C>A			131426144	Q6GS87	Silent	SNP	ENST00000296870.2	37	CCDS4149.1																																																																																				0.587	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588		A	131398245	C	A	131398245	2	1	79	1	0	0	0	0	0	0	0	1	7689	581	21	3		3	IL3	5	131398245	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	130117844	131398245	49517015	50	4014											
PDLIM4	8572	genome.wustl.edu	37	5	131607826	131607826	+	Silent	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr5:131607826G>A	ENST00000253754.3	+	7	961	c.897G>A	c.(895-897)cgG>cgA	p.R299R	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	299	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)	p.R299R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGACGAGCGGCTCTACTGTG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	5											92	78	83					5																	131607826		2203	4300	6503	131635725	SO:0001819	synonymous_variant	8572			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.897G>A	5.37:g.131607826G>A			131635725	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Silent	SNP	ENST00000253754.3	37	CCDS4152.1																																																																																				0.612	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		A	131607826	G	A	131607826	2	1	79	1	0	0	0	0	0	0	0	1	11682	1190	42	2		2	PDLIM4	5	131607826	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	209581	131607826	49307434	51	4015											
SPOCK1	6695	genome.wustl.edu	37	5	136328278	136328278	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr5:136328278T>G	ENST00000394945.1	-	7	770	c.601A>C	c.(601-603)Aag>Cag	p.K201Q	SPOCK1_ENST00000282223.7_Missense_Mutation_p.K201Q	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	201					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.K201Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCAACTCCTTGTCTGTGCAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	5											106	99	101					5																	136328278		2203	4300	6503	136356177	SO:0001583	missense	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.601A>C	5.37:g.136328278T>G	ENSP00000378401:p.Lys201Gln		136356177	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	T	6.949	0.544852	0.13312	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000510689	T;T;T	0.42900	0.96;0.96;1.01	5.89	5.89	0.94794	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.266401	0.37304	N	0.002153	T	0.27241	0.0668	N	0.04203	-0.255	0.36636	D	0.876599	P	0.52692	0.955	P	0.51701	0.677	T	0.24012	-1.0172	10	0.06494	T	0.89	.	11.4838	0.50342	0.0:0.0:0.15:0.85	.	201	Q08629	TICN1_HUMAN	Q	201;201;56	ENSP00000378401:K201Q;ENSP00000282223:K201Q;ENSP00000421677:K56Q	ENSP00000282223:K201Q	K	-	1	0	SPOCK1	136356177	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.682000	0.37628	2.254000	0.74563	0.533000	0.62120	AAG		0.552	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		G	136328278	T	G	136328278	3	3	79	1	0	0	0	0	1	0	0	0	15081	1821	63	5	738	5	SPOCK1	5	136328278	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	4720452	136328278	44586982	52	4016											
PSD2	84249	genome.wustl.edu	37	5	139216581	139216581	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr5:139216581A>G	ENST00000274710.3	+	10	1794	c.1589A>G	c.(1588-1590)aAg>aGg	p.K530R		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	530	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.K530R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGATGGCAAGAGGAGTGGG	0.642																																																1	Substitution - Missense(1)	ovary(1)	5											82	78	79					5																	139216581		2203	4300	6503	139196765	SO:0001583	missense	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1589A>G	5.37:g.139216581A>G	ENSP00000274710:p.Lys530Arg		139196765	D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547504	0.86022	.	.	ENSG00000146005	ENST00000274710	D	0.82081	-1.57	5.27	5.27	0.74061	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	L	0.58669	1.825	0.80722	D	1	P	0.36837	0.571	B	0.39152	0.292	T	0.79536	-0.1763	10	0.28530	T	0.3	.	15.1724	0.72884	1.0:0.0:0.0:0.0	.	530	Q9BQI7	PSD2_HUMAN	R	530	ENSP00000274710:K530R	ENSP00000274710:K530R	K	+	2	0	PSD2	139196765	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.879000	0.92398	2.003000	0.58678	0.397000	0.26171	AAG		0.642	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		G	139216581	A	G	139216581	3	3	79	1	0	0	0	0	1	0	0	0	12650	72	3	4	1623	4	PSD2	5	139216581	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	2888303	139216581	41698679	53	4017											
SPINK5	11005	genome.wustl.edu	37	5	147510894	147510894	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr5:147510894G>C	ENST00000256084.7	+	31	3079	c.3037G>C	c.(3037-3039)Gtc>Ctc	p.V1013L	SPINK5_ENST00000359874.3_Missense_Mutation_p.V1043L	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1013	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1013L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAAAGCCTGTCTGTGGTGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	5											246	234	238					5																	147510894		1970	4164	6134	147491087	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3037G>C	5.37:g.147510894G>C	ENSP00000256084:p.Val1013Leu		147491087	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954379	0.73902	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.81163	-1.46;-1.46	4.69	4.69	0.59074	Proteinase inhibitor I1, Kazal (3);	0.000000	0.64402	D	0.000006	D	0.89121	0.6625	M	0.79693	2.465	0.35717	D	0.816831	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91885	0.5519	10	0.49607	T	0.09	-15.7605	13.8363	0.63410	0.0:0.0:1.0:0.0	.	1043;1013	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	L	1043;1013	ENSP00000352936:V1043L;ENSP00000256084:V1013L	ENSP00000256084:V1013L	V	+	1	0	SPINK5	147491087	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.484000	0.60271	2.514000	0.84764	0.655000	0.94253	GTC		0.413	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		C	147510894	G	C	147510894	3	2	79	1	0	0	0	0	1	0	0	0	15064	1377	48	3	3265	3	SPINK5	5	147510894	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	8294313	147510894	33404366	54	4018											
RREB1	6239	genome.wustl.edu	37	6	7230677	7230677	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:7230677G>T	ENST00000349384.6	+	10	2659	c.2345G>T	c.(2344-2346)gGg>gTg	p.G782V	RREB1_ENST00000334984.6_Missense_Mutation_p.G782V|RREB1_ENST00000379938.2_Missense_Mutation_p.G782V|RREB1_ENST00000379933.3_Missense_Mutation_p.G782V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	782					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G782V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCCTGGGCGGGGGCCACAAG	0.697																																																1	Substitution - Missense(1)	ovary(1)	6											9	9	9					6																	7230677		2138	4136	6274	7175676	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2345G>T	6.37:g.7230677G>T	ENSP00000305560:p.Gly782Val		7175676	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984939	0.53934	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.10960	2.92;2.89;2.92;2.82	5.09	5.09	0.68999	.	0.214779	0.34025	N	0.004321	T	0.06050	0.0157	N	0.05351	-0.065	0.50467	D	0.999876	D;D;D	0.60575	0.973;0.988;0.985	P;D;P	0.63283	0.859;0.913;0.859	T	0.16867	-1.0388	10	0.49607	T	0.09	-44.8555	6.078	0.19925	0.2181:0.0:0.7819:0.0	.	782;782;782	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	782	ENSP00000369265:G782V;ENSP00000369270:G782V;ENSP00000305560:G782V;ENSP00000335574:G782V	ENSP00000335574:G782V	G	+	2	0	RREB1	7175676	0.999000	0.42202	0.999000	0.59377	0.763000	0.43281	2.047000	0.41269	2.642000	0.89623	0.655000	0.94253	GGG		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7230677	G	T	7230677	3	4	79	1	0	0	0	0	1	0	0	0	13682	1232	43	3	2371	3	RREB1	6	7230677	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09		7230677	163884390	55	4019											
DSP	1832	genome.wustl.edu	37	6	7559457	7559457	+	Splice_Site	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:7559457A>G	ENST00000379802.3	+	4	763		c.e4-1		DSP_ENST00000418664.2_Splice_Site	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.?(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTTTCTTTGCAGGCTTCTTCA	0.483																																																1	Unknown(1)	ovary(1)	6											75	82	80					6																	7559457		2203	4300	6503	7504456	SO:0001630	splice_region_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.423-1A>G	6.37:g.7559457A>G			7504456	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Splice_Site	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682877	0.47991	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.925	0.79609	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSP	7504456	1.000000	0.71417	0.907000	0.35723	0.619000	0.37552	6.283000	0.72646	2.225000	0.72522	0.533000	0.62120	.		0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	Intron	G	7559457	A	G	7559457	5	3	79	1	0	0	0	0	0	0	1	0	4781	202	7	4	435	4	DSP	6	7559457	Splice_Site	SNP	A	TCGA-13-0760-01A-01W-0372-09	328780	7559457	163555610	56	4020											
VPS52	6293	genome.wustl.edu	37	6	33231828	33231828	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:33231828G>C	ENST00000445902.2	-	15	1795	c.1577C>G	c.(1576-1578)aCa>aGa	p.T526R	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.T401R|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	526					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.T526R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATTAGGAATTGTCTGGTTGAT	0.557																																																1	Substitution - Missense(1)	ovary(1)	6											165	155	158					6																	33231828		2203	4300	6503	33339806	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1577C>G	6.37:g.33231828G>C	ENSP00000409952:p.Thr526Arg		33339806	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099279	0.56183	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.64997	1.995	0.80722	D	1	D;P	0.55172	0.97;0.889	P;P	0.51385	0.668;0.641	T	0.46527	-0.9185	9	0.14252	T	0.57	-13.3763	16.1132	0.81278	0.0:0.0:1.0:0.0	.	337;526	B3KMF7;Q8N1B4	.;VPS52_HUMAN	R	526;504;401	.	ENSP00000414785:T504R	T	-	2	0	VPS52	33339806	1.000000	0.71417	0.990000	0.47175	0.958000	0.62258	8.246000	0.89828	2.766000	0.95052	0.573000	0.79308	ACA		0.557	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		C	33231828	G	C	33231828	3	2	79	1	0	0	0	0	1	0	0	0	17214	1377	48	3	618	3	VPS52	6	33231828	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	25672371	33231828	137883239	57	4021											
SPDEF	25803	genome.wustl.edu	37	6	34512224	34512224	+	Silent	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:34512224G>A	ENST00000374037.3	-	2	423	c.9C>T	c.(7-9)agC>agT	p.S3S	SPDEF_ENST00000544425.1_Silent_p.S3S	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	3					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S3S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCGGGCTGGCGCTGCCCATGC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	6											10	10	10					6																	34512224		2085	4093	6178	34620202	SO:0001819	synonymous_variant	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.9C>T	6.37:g.34512224G>A			34620202	B4DWH8|F5H778	Silent	SNP	ENST00000374037.3	37	CCDS4794.1																																																																																				0.662	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		A	34512224	G	A	34512224	2	1	79	1	0	0	0	0	0	0	0	1	15028	1078	38	1		1	SPDEF	6	34512224	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	1280396	34512224	136602843	58	4022											
UHRF1BP1	54887	genome.wustl.edu	37	6	34831840	34831840	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:34831840C>A	ENST00000192788.5	+	15	3448	c.3277C>A	c.(3277-3279)Ctc>Atc	p.L1093I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L1093I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1093							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L1093I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGCTGCACGACTCCGATTTTT	0.488																																																1	Substitution - Missense(1)	ovary(1)	6											99	109	106					6																	34831840		2018	4159	6177	34939818	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3277C>A	6.37:g.34831840C>A	ENSP00000192788:p.Leu1093Ile		34939818	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707158	0.48412	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.15952	2.38;2.38	5.51	5.51	0.81932	.	0.160393	0.43919	D	0.000510	T	0.05640	0.0148	N	0.08118	0	0.35405	D	0.791934	D	0.54397	0.966	P	0.46144	0.505	T	0.23547	-1.0185	10	0.35671	T	0.21	-18.2959	12.0132	0.53299	0.2159:0.7841:0.0:0.0	.	1093	Q6BDS2	URFB1_HUMAN	I	1093	ENSP00000192788:L1093I;ENSP00000400628:L1093I	ENSP00000192788:L1093I	L	+	1	0	UHRF1BP1	34939818	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	2.901000	0.48695	2.873000	0.98535	0.561000	0.74099	CTC		0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		A	34831840	C	A	34831840	3	1	79	1	0	0	0	0	1	0	0	0	16968	565	20	3	3335	3	UHRF1BP1	6	34831840	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	319616	34831840	136283227	59	4023											
RHAG	6005	genome.wustl.edu	37	6	49582561	49582562	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	GA	GA	GA	TT	GA	GA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:49582561_49582562GA>TT	ENST00000371175.4	-	5	671_672	c.645_646TC>AA	c.(643-648)acTCtc>acAAtc	p.L216I	RHAG_ENST00000229810.7_Missense_Mutation_p.L216I	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	216					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CACAGAAAGAGAGTCCCTGTAG	0.421																																					Ovarian(176;476 2003 7720 43408 44749)											0			6																																								49690521	SO:0001583	missense	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.645_646delinsTT	6.37:g.49582561_49582562delinsTT	ENSP00000360217:p.Leu216Ile		49690520	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	DNP	ENST00000371175.4	37	CCDS4927.1																																																																																				0.421	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			TT	49582562	GA	TT	49582561	3	4	79	1	0	0	0	0	1	0	0	0	13318	942	33	3	607	3	RHAG	6	49582561	Missense_Mutation	DNP	GA	TCGA-13-0760-01A-01W-0372-09	14750721	49582561	121532506	60	4024											
DST	667	genome.wustl.edu	37	6	56417764	56417764	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:56417764T>C	ENST00000361203.3	-	57	15200	c.15193A>G	c.(15193-15195)Aaa>Gaa	p.K5065E	DST_ENST00000446842.2_Missense_Mutation_p.K4741E|DST_ENST00000370769.4_Missense_Mutation_p.K5067E|DST_ENST00000244364.6_Missense_Mutation_p.K2653E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.K2979E|DST_ENST00000421834.2_Missense_Mutation_p.K2979E|DST_ENST00000370754.5_Missense_Mutation_p.K5245E			Q03001	DYST_HUMAN	dystonin	5065					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.K5067E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAAATTCTTTAAACTTCTGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											141	137	138					6																	56417764		1846	4105	5951	56525723	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15193A>G	6.37:g.56417764T>C	ENSP00000354508:p.Lys5065Glu		56525723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	16.47	3.131101	0.56828	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.65549	1.09;-0.09;-0.11;0.03;0.84;0.01;-0.16	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000029	T	0.71617	0.3361	M	0.79475	2.455	0.25251	N	0.989674	D;D;D;D;P	0.76494	0.999;0.969;0.969;0.999;0.935	D;P;P;D;P	0.80764	0.991;0.593;0.701;0.994;0.596	T	0.69416	-0.5151	9	0.17369	T	0.5	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	2979;5067;5245;5065;2653	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	2653;5245;5067;2979;4741;2979;5065	ENSP00000244364:K2653E;ENSP00000359790:K5245E;ENSP00000359805:K5067E;ENSP00000400883:K2979E;ENSP00000393645:K4741E;ENSP00000359824:K2979E;ENSP00000354508:K5065E	ENSP00000244364:K2653E	K	-	1	0	DST	56525723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.970000	0.88000	2.324000	0.78689	0.533000	0.62120	AAA		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		C	56417764	T	C	56417764	3	2	79	1	0	0	0	0	1	0	0	0	4783	1763	61	4	7730	4	DST	6	56417764	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	6835203	56417764	114697303	61	4025											
DST	667	genome.wustl.edu	37	6	56497780	56497780	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:56497780C>T	ENST00000361203.3	-	24	3051	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H	DST_ENST00000446842.2_Missense_Mutation_p.R689H|DST_ENST00000518935.1_Missense_Mutation_p.R689H|DST_ENST00000370769.4_Missense_Mutation_p.R1015H|DST_ENST00000244364.6_Missense_Mutation_p.R689H|DST_ENST00000312431.6_Missense_Mutation_p.R1015H|DST_ENST00000370765.6_Missense_Mutation_p.R689H|DST_ENST00000370788.2_Missense_Mutation_p.R1015H|DST_ENST00000421834.2_Missense_Mutation_p.R1015H|DST_ENST00000370754.5_Missense_Mutation_p.R1193H			Q03001	DYST_HUMAN	dystonin	1015					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R689H(4)|p.R1015H(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCTTCAAAACGAGATTGTAG	0.358																																																6	Substitution - Missense(6)	lung(4)|ovary(2)	6											110	107	108					6																	56497780		2203	4300	6503	56605739	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3044G>A	6.37:g.56497780C>T	ENSP00000354508:p.Arg1015His		56605739	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	9.502	1.103451	0.20632	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.69	4.82	0.62117	.	0.111665	0.40554	N	0.001080	T	0.12050	0.0293	N	0.00360	-1.595	0.33753	D	0.620823	B;D;B;B;B;P;B;P	0.89917	0.007;1.0;0.007;0.005;0.006;0.568;0.007;0.49	B;D;B;B;B;B;B;B	0.78314	0.001;0.991;0.001;0.001;0.003;0.165;0.001;0.081	T	0.36114	-0.9761	9	0.02654	T	1	.	14.7848	0.69793	0.0:0.931:0.0:0.069	.	1015;1015;1193;689;689;689;1015;689	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	H	689;1193;1015;1015;689;1015;1015;1015;689;1055;689;689	ENSP00000244364:R689H;ENSP00000359790:R1193H;ENSP00000359805:R1015H;ENSP00000400883:R1015H;ENSP00000393645:R689H;ENSP00000307959:R1015H;ENSP00000359824:R1015H;ENSP00000354508:R1015H;ENSP00000404924:R689H;ENSP00000431030:R1055H;ENSP00000359801:R689H;ENSP00000431003:R689H	ENSP00000244364:R689H	R	-	2	0	DST	56605739	1.000000	0.71417	0.947000	0.38551	0.669000	0.39330	3.746000	0.55127	1.558000	0.49541	0.650000	0.86243	CGT		0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56497780	C	T	56497780	3	4	79	1	0	0	0	0	1	0	0	0	4783	536	19	1	18373	1	DST	6	56497780	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	80016	56497780	114617287	62	4026											
BAI3	577	genome.wustl.edu	37	6	69685227	69685227	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:69685227C>G	ENST00000370598.1	+	10	2550	c.1729C>G	c.(1729-1731)Cat>Gat	p.H577D		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	577					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H577D(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACACTTGCAGCATTCAGTAGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	6											87	75	79					6																	69685227		2203	4300	6503	69741948	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1729C>G	6.37:g.69685227C>G	ENSP00000359630:p.His577Asp		69741948	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475945	0.63737	.	.	ENSG00000135298	ENST00000370598	T	0.19250	2.16	5.75	5.75	0.90469	.	0.306795	0.36303	N	0.002676	T	0.05731	0.0150	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.30880	-0.9963	10	0.12430	T	0.62	.	20.3046	0.98621	0.0:1.0:0.0:0.0	.	577	O60242	BAI3_HUMAN	D	577	ENSP00000359630:H577D	ENSP00000359630:H577D	H	+	1	0	BAI3	69741948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.878000	0.98634	0.650000	0.86243	CAT		0.438	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			G	69685227	C	G	69685227	3	3	79	1	0	0	0	0	1	0	0	0	1300	710	25	3	1759	3	BAI3	6	69685227	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	13187447	69685227	101429840	63	4027											
COL9A1	1297	genome.wustl.edu	37	6	70942435	70942459	+	Frame_Shift_Del	DEL	TCTGGACGCTTAAGACTGGCAGCCA	TCTGGACGCTTAAGACTGGCAGCCA	-	rs566003668|rs375684014		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	TCTGGACGCTTAAGACTGGCAGCCA	TCTGGACGCTTAAGACTGGCAGCCA	TCTGGACGCTTAAGACTGGCAGCCA	-	TCTGGACGCTTAAGACTGGCAGCCA	TCTGGACGCTTAAGACTGGCAGCCA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:70942435_70942459delTCTGGACGCTTAAGACTGGCAGCCA	ENST00000357250.6	-	36	2488_2512	c.2330_2354delTGGCTGCCAGTCTTAAGCGTCCAGA	c.(2329-2355)atggctgccagtcttaagcgtccagacfs	p.MAASLKRPD777fs	COL9A1_ENST00000320755.7_Frame_Shift_Del_p.MAASLKRPD534fs|COL9A1_ENST00000370499.4_Frame_Shift_Del_p.MAASLKRPD534fs|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	777	Nonhelical region (NC2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.M777fs*46(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGCACCTGAGTCTGGACGCTTAAGACTGGCAGCCATCTCAGCAAA	0.489																																																1	Deletion - Frameshift(1)	ovary(1)	6																																								70999180	SO:0001589	frameshift_variant	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2330_2354delTGGCTGCCAGTCTTAAGCGTCCAGA	6.37:g.70942435_70942459delTCTGGACGCTTAAGACTGGCAGCCA	ENSP00000349790:p.Met777fs		70999156	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Frame_Shift_Del	DEL	ENST00000357250.6	37	CCDS4971.1																																																																																				0.489	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			-	70942459	TCTGGACGCTTAAGACTGGCAGCCA	-	70942435	7	5	79	1	0	1	0	1	0	0	0	0	3707	1667	58	0	423	0	COL9A1	6	70942435	Frame_Shift_Del	DEL	TCTGGACGCTTAAGACTGGCAGCCA	TCGA-13-0760-01A-01W-0372-09	1257208	70942435	100172632	64	4028											
LAMA4	3910	genome.wustl.edu	37	6	112575331	112575347	+	Frame_Shift_Del	DEL	GCCAGGCTGAGCTCAAA	GCCAGGCTGAGCTCAAA	-	rs149430073		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	GCCAGGCTGAGCTCAAA	GCCAGGCTGAGCTCAAA	GCCAGGCTGAGCTCAAA	-	GCCAGGCTGAGCTCAAA	GCCAGGCTGAGCTCAAA	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:112575331_112575347delGCCAGGCTGAGCTCAAA	ENST00000230538.7	-	2	403_419	c.6_22delTTTGAGCTCAGCCTGGC	c.(4-24)gctttgagctcagcctggcgcfs	p.LSSAWR3fs	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|LAMA4_ENST00000368638.4_Frame_Shift_Del_p.LSSAWR3fs|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000453937.2_Frame_Shift_Del_p.LSSAWR3fs|RP11-506B6.6_ENST00000585450.1_RNA|LAMA4_ENST00000522006.1_Frame_Shift_Del_p.LSSAWR3fs|LAMA4_ENST00000431543.2_Frame_Shift_Del_p.LSSAWR3fs|LAMA4_ENST00000389463.4_Frame_Shift_Del_p.LSSAWR3fs|LAMA4_ENST00000424408.2_Frame_Shift_Del_p.LSSAWR3fs|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	3					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.S4fs*26(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGAACCGAGCGCCAGGCTGAGCTCAAAGCCATTTCTC	0.631																																																1	Deletion - Frameshift(1)	ovary(1)	6																																								112682040	SO:0001589	frameshift_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.6_22delTTTGAGCTCAGCCTGGC	6.37:g.112575331_112575347delGCCAGGCTGAGCTCAAA	ENSP00000230538:p.Leu3fs		112682024	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Frame_Shift_Del	DEL	ENST00000230538.7	37	CCDS43491.1																																																																																				0.631	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		-	112575347	GCCAGGCTGAGCTCAAA	-	112575331	7	5	79	1	0	1	0	1	0	0	0	0	8608	1087	38	0	5769	0	LAMA4	6	112575331	Frame_Shift_Del	DEL	GCCAGGCTGAGCTCAAA	TCGA-13-0760-01A-01W-0372-09	41632896	112575331	58539736	65	4029											
C6orf70	55780	genome.wustl.edu	37	6	170179380	170179381	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	GC	GC	AG	AG	GC	GC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr6:170179380_170179381GC>AG	ENST00000366773.3	+	17	1875_1876	c.1842_1843GC>AG	c.(1840-1845)caGCag>caAGag	p.Q615E	ERMARD_ENST00000588451.1_Missense_Mutation_p.Q479E|ERMARD_ENST00000418781.3_Missense_Mutation_p.Q542E|ERMARD_ENST00000392095.4_Missense_Mutation_p.Q489E|ERMARD_ENST00000366772.2_Missense_Mutation_p.Q568E	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	615					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ATGAGTATCAGCAGTACCTAAA	0.5																																																0			6																																								169921306	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	Exception_encountered	6.37:g.170179380_170179381delinsAG	ENSP00000355735:p.Gln615Glu		169921305	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	DNP	ENST00000366773.3	37	CCDS34576.1																																																																																				0.5	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		AG	170179381	GC	AG	170179380	3	1	79	1	0	0	0	0	1	0	0	0	2370	962	34	2	1908	2	C6orf70	6	170179380	Missense_Mutation	DNP	GC	TCGA-13-0760-01A-01W-0372-09	57604049	170179380	935687	66	4030											
SCIN	85477	genome.wustl.edu	37	7	12664740	12664740	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr7:12664740G>A	ENST00000297029.5	+	6	966	c.865G>A	c.(865-867)Gct>Act	p.A289T	SCIN_ENST00000519209.1_Missense_Mutation_p.A42T|SCIN_ENST00000445618.2_Missense_Mutation_p.A42T|SCIN_ENST00000473722.1_3'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	289	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.A289T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGACCACGGGGCTGCCAAACA	0.388																																																1	Substitution - Missense(1)	ovary(1)	7											56	56	56					7																	12664740		1871	4110	5981	12631265	SO:0001583	missense	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.865G>A	7.37:g.12664740G>A	ENSP00000297029:p.Ala289Thr		12631265	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221742	0.39300	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.53423	0.62;0.62;0.62	5.53	4.64	0.57946	Gelsolin domain (1);	0.398687	0.28187	N	0.016276	T	0.35566	0.0936	L	0.31578	0.945	0.09310	N	1	B	0.10296	0.003	B	0.21151	0.033	T	0.13980	-1.0489	10	0.36615	T	0.2	-8.9575	11.4949	0.50402	0.137:0.0:0.863:0.0	.	289	Q9Y6U3	ADSV_HUMAN	T	289;42;42	ENSP00000297029:A289T;ENSP00000430997:A42T;ENSP00000390189:A42T	ENSP00000297029:A289T	A	+	1	0	SCIN	12631265	0.000000	0.05858	1.000000	0.80357	0.842000	0.47809	0.845000	0.27668	2.775000	0.95449	0.585000	0.79938	GCT		0.388	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		A	12664740	G	A	12664740	3	1	79	1	0	0	0	0	1	0	0	0	13908	1203	42	2	887	2	SCIN	7	12664740	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09		12664740	146473923	67	4031											
CAMK2B	816	genome.wustl.edu	37	7	44281378	44281378	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr7:44281378C>T	ENST00000395749.2	-	11	900	c.824G>A	c.(823-825)cGc>cAc	p.R275H	CAMK2B_ENST00000502837.2_Missense_Mutation_p.R146H|CAMK2B_ENST00000395747.2_Missense_Mutation_p.R275H|CAMK2B_ENST00000440254.2_Missense_Mutation_p.R275H|CAMK2B_ENST00000350811.3_Missense_Mutation_p.R275H|CAMK2B_ENST00000457475.1_Missense_Mutation_p.R275H|CAMK2B_ENST00000346990.4_Missense_Mutation_p.R275H|CAMK2B_ENST00000358707.3_Missense_Mutation_p.R275H|CAMK2B_ENST00000353625.4_Missense_Mutation_p.R275H|CAMK2B_ENST00000347193.4_Missense_Mutation_p.R275H|CAMK2B_ENST00000258682.6_Missense_Mutation_p.R275H	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	275					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.R275H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TACCGTGGAGCGTTGCTGTGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	7											144	129	134					7																	44281378		2203	4300	6503	44247903	SO:0001583	missense	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.824G>A	7.37:g.44281378C>T	ENSP00000379098:p.Arg275His		44247903	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	CCDS5483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.260128|4.260128	0.80246|0.80246	.|.	.|.	ENSG00000058404|ENSG00000058404	ENST00000433930|ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747	.|T;T;T;T;T;T;T;T;T;T;T	.|0.68479	.|1.86;1.86;-0.33;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	4.0|4.0	4.0|4.0	0.46444|0.46444	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.79941|0.79941	0.4533|0.4533	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|P;D;B;P;D;P;P;D;P	.|0.89917	.|0.807;0.999;0.161;0.944;1.0;0.708;0.524;1.0;0.882	.|P;D;B;P;D;B;B;D;B	.|0.85130	.|0.46;0.925;0.051;0.57;0.997;0.271;0.159;0.956;0.235	T|T	0.82999|0.82999	-0.0178|-0.0178	5|9	.|0.72032	.|D	.|0.01	.|.	15.8814|15.8814	0.79207|0.79207	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|275;275;275;275;275;275;275;275;275	.|Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.|.;.;.;.;.;.;.;KCC2B_HUMAN;.	T|H	32|275;275;275;146;275;275;275;275;275;275;275	.|ENSP00000326375:R275H;ENSP00000390292:R275H;ENSP00000379098:R275H;ENSP00000422416:R146H;ENSP00000397937:R275H;ENSP00000351542:R275H;ENSP00000326427:R275H;ENSP00000326544:R275H;ENSP00000326518:R275H;ENSP00000258682:R275H;ENSP00000379096:R275H	.|ENSP00000258682:R275H	A|R	-|-	1|2	0|0	CAMK2B|CAMK2B	44247903|44247903	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.561000|0.561000	0.35649|0.35649	7.380000|7.380000	0.79704|0.79704	2.058000|2.058000	0.61347|0.61347	0.462000|0.462000	0.41574|0.41574	GCT|CGC		0.602	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		T	44281378	C	T	44281378	3	4	79	1	0	0	0	0	1	0	0	0	2600	768	27	1	1231	1	CAMK2B	7	44281378	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	31616638	44281378	114857285	68	4032											
DYNC1I1	1780	genome.wustl.edu	37	7	95442627	95442627	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr7:95442627G>A	ENST00000324972.6	+	4	536	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G98S|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G98S|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G115S|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G98S|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.G98S|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G98S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	115	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.G115S(1)|p.G115C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCAAGACTCAGGCGATCTGGG	0.423																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	7											74	71	72					7																	95442627		2203	4300	6503	95280563	SO:0001583	missense	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.343G>A	7.37:g.95442627G>A	ENSP00000320130:p.Gly115Ser		95280563	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567105	0.45694	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T	0.74315	-0.54;-0.79;-0.83;-0.62;-0.61;-0.54	4.55	4.55	0.56014	.	0.267161	0.36628	N	0.002492	T	0.66829	0.2829	L	0.43152	1.355	0.39097	D	0.961216	B;B;B;B;B	0.18166	0.006;0.026;0.01;0.015;0.01	B;B;B;B;B	0.25405	0.017;0.06;0.015;0.007;0.037	T	0.62077	-0.6930	10	0.07030	T	0.85	-1.1365	18.616	0.91303	0.0:0.0:1.0:0.0	.	98;115;98;115;98	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	S	98;115;98;115;98;98;98;98	ENSP00000392337:G98S;ENSP00000320130:G115S;ENSP00000438377:G98S;ENSP00000398118:G115S;ENSP00000352348:G98S;ENSP00000412444:G98S	ENSP00000320130:G115S	G	+	1	0	DYNC1I1	95280563	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.429000	0.73387	2.810000	0.96702	0.655000	0.94253	GGC		0.423	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		A	95442627	G	A	95442627	3	1	79	1	0	0	0	0	1	0	0	0	4842	1000	35	2	353	2	DYNC1I1	7	95442627	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	51161249	95442627	63696036	69	4033											
ZNF498	221785	genome.wustl.edu	37	7	99219046	99219046	+	Silent	SNP	C	C	T	rs376411021		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr7:99219046C>T	ENST00000394152.2	+	5	765	c.438C>T	c.(436-438)ggC>ggT	p.G146G	ZSCAN25_ENST00000262941.6_Silent_p.G146G|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Silent_p.G146G	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	146					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.G146G(1)									TTTGCAGAGGCGCTTGGGAGC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	7						C		0,4406		0,0,2203	76	74	75		438	-6.4	0	7		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF498	NM_145115.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		146/545	99219046	1,13005	2203	4300	6503	99056982	SO:0001819	synonymous_variant	221785			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.438C>T	7.37:g.99219046C>T			99056982	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Silent	SNP	ENST00000394152.2	37	CCDS5671.2																																																																																				0.597	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		T	99219046	C	T	99219046	2	4	79	1	0	0	0	0	0	0	0	1	17947	755	27	1		1	ZNF498	7	99219046	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	3776419	99219046	59919617	70	4034											
C7orf52	375607	genome.wustl.edu	37	7	100817976	100817976	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr7:100817976G>T	ENST00000300303.2	-	2	351	c.113C>A	c.(112-114)gCc>gAc	p.A38D	NAT16_ENST00000443096.1_Missense_Mutation_p.A38D|NAT16_ENST00000455377.1_Missense_Mutation_p.A38D	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	38							N-acetyltransferase activity (GO:0008080)	p.A38D(1)									CCTGGGCTCGGCCTCCACCTC	0.647																																																1	Substitution - Missense(1)	ovary(1)	7											55	57	56					7																	100817976		2203	4300	6503	100604696	SO:0001583	missense	375607			AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.113C>A	7.37:g.100817976G>T	ENSP00000300303:p.Ala38Asp		100604696	B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073839	0.55646	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446;ENST00000443096	T;T;T;T	0.60920	0.15;0.15;0.24;0.27	3.82	1.91	0.25777	.	.	.	.	.	T	0.32912	0.0845	N	0.08118	0	0.09310	N	1	B;B	0.22909	0.077;0.033	B;B	0.19391	0.025;0.013	T	0.23797	-1.0178	9	0.72032	D	0.01	.	4.0914	0.09972	0.1253:0.0:0.644:0.2307	.	38;38	B3KRS2;Q8N8M0	.;CG052_HUMAN	D	38	ENSP00000300303:A38D;ENSP00000395125:A38D;ENSP00000391769:A38D;ENSP00000394435:A38D	ENSP00000300303:A38D	A	-	2	0	C7orf52	100604696	0.001000	0.12720	0.003000	0.11579	0.194000	0.23727	0.585000	0.23879	0.263000	0.21812	0.407000	0.27541	GCC		0.647	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		T	100817976	G	T	100817976	3	4	79	1	0	0	0	0	1	0	0	0	2401	1203	42	3	1008	3	C7orf52	7	100817976	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	1598930	100817976	58320687	71	4035											
ZNF277	11179	genome.wustl.edu	37	7	111936289	111936289	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr7:111936289C>A	ENST00000361822.3	+	4	517	c.388C>A	c.(388-390)Caa>Aaa	p.Q130K	ZNF277_ENST00000450657.1_Missense_Mutation_p.Q130K	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	130					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.Q130K(1)		breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AACAGAAGAACAAGAGAATTA	0.313																																																1	Substitution - Missense(1)	ovary(1)	7											57	62	60					7																	111936289		2198	4284	6482	111723525	SO:0001583	missense	11179			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.388C>A	7.37:g.111936289C>A	ENSP00000354501:p.Gln130Lys		111723525	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548937	0.27652	.	.	ENSG00000198839	ENST00000361822;ENST00000450657	T;T	0.30182	1.55;1.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.59912	1.85	0.80722	D	1	D;P	0.53151	0.958;0.48	P;B	0.46026	0.501;0.09	T	0.03728	-1.1009	10	0.33141	T	0.24	-19.3218	20.8794	0.99867	0.0:1.0:0.0:0.0	.	130;130	Q9NRM2;G5E9M4	ZN277_HUMAN;.	K	130	ENSP00000354501:Q130K;ENSP00000402292:Q130K	ENSP00000354501:Q130K	Q	+	1	0	ZNF277	111723525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.538000	0.73852	2.941000	0.99782	0.655000	0.94253	CAA		0.313	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		A	111936289	C	A	111936289	3	1	79	1	0	0	0	0	1	0	0	0	17812	479	17	3	402	3	ZNF277	7	111936289	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	11118313	111936289	47202374	72	4036											
ZNF425	155054	genome.wustl.edu	37	7	148801416	148801416	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr7:148801416T>C	ENST00000378061.2	-	4	1679	c.1547A>G	c.(1546-1548)cAc>cGc	p.H516R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	516					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H516R(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GACCTTCAGGTGCTGCGTGAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	7											45	37	40					7																	148801416		2203	4299	6502	148432349	SO:0001583	missense	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1547A>G	7.37:g.148801416T>C	ENSP00000367300:p.His516Arg		148432349	B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311746	0.81358	.	.	ENSG00000204947	ENST00000378061	D	0.86865	-2.18	3.02	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94739	0.8302	H	0.96015	3.755	0.36136	D	0.846458	D	0.89917	1.0	D	0.91635	0.999	D	0.95929	0.8937	9	0.87932	D	0	.	9.4166	0.38525	0.0:0.0:0.0:1.0	.	516	Q6IV72	ZN425_HUMAN	R	516	ENSP00000367300:H516R	ENSP00000367300:H516R	H	-	2	0	ZNF425	148432349	0.992000	0.36948	0.185000	0.23176	0.462000	0.32619	1.818000	0.39012	1.388000	0.46506	0.533000	0.62120	CAC		0.617	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		C	148801416	T	C	148801416	3	2	79	1	0	0	0	0	1	0	0	0	17899	1696	59	4	715	4	ZNF425	7	148801416	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	36865127	148801416	10337247	73	4037											
SULF1	23213	genome.wustl.edu	37	8	70551056	70551056	+	Silent	SNP	T	T	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr8:70551056T>C	ENST00000260128.4	+	21	3231	c.2514T>C	c.(2512-2514)taT>taC	p.Y838Y	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.Y838Y|SULF1_ENST00000419716.3_Silent_p.Y838Y|SULF1_ENST00000458141.2_Silent_p.Y838Y	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	838					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.Y838Y(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTCAAGGATATAAGCAGTGCA	0.388																																																1	Substitution - coding silent(1)	ovary(1)	8											91	79	83					8																	70551056		2203	4300	6503	70713610	SO:0001819	synonymous_variant	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2514T>C	8.37:g.70551056T>C			70713610	Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	CCDS6204.1																																																																																				0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		C	70551056	T	C	70551056	2	2	79	1	0	0	0	0	0	0	0	1	15372	1413	49	4		4	SULF1	8	70551056	Silent	SNP	T	TCGA-13-0760-01A-01W-0372-09		70551056	75812966	74	4038											
CSMD3	114788	genome.wustl.edu	37	8	113326672	113326672	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr8:113326672A>T	ENST00000297405.5	-	48	7779	c.7535T>A	c.(7534-7536)cTt>cAt	p.L2512H	CSMD3_ENST00000343508.3_Missense_Mutation_p.L2472H|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2408H|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2442H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2512	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2512H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACACCTGAAGAACATCAAA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											97	94	95					8																	113326672		2203	4300	6503	113395848	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7535T>A	8.37:g.113326672A>T	ENSP00000297405:p.Leu2512His		113395848	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.849368	0.71603	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	4.98	3.82	0.43975	CUB (5);	0.093892	0.42420	D	0.000715	T	0.80037	0.4550	H	0.97707	4.06	0.46376	D	0.999017	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.987;1.0;0.993	T	0.83125	-0.0116	10	0.49607	T	0.09	.	10.6389	0.45582	0.9244:0.0:0.0756:0.0	.	2408;2512;2472	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2472;2512;1782;2408;2442	ENSP00000345799:L2472H;ENSP00000297405:L2512H;ENSP00000341558:L1782H;ENSP00000412263:L2408H;ENSP00000343124:L2442H	ENSP00000297405:L2512H	L	-	2	0	CSMD3	113395848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	0.920000	0.36970	0.472000	0.43445	CTT		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113326672	A	T	113326672	3	4	79	1	0	0	0	0	1	0	0	0	3946	72	3	5	3684	5	CSMD3	8	113326672	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	42775616	113326672	33037350	75	4039											
EXT1	2131	genome.wustl.edu	37	8	118825129	118825129	+	Silent	SNP	C	C	T	rs146389596		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr8:118825129C>T	ENST00000378204.2	-	8	2510	c.1704G>A	c.(1702-1704)acG>acA	p.T568T		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	568					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.T568T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTGAAAGCACCGTGTCCTCGT	0.537			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	1	Substitution - coding silent(1)	ovary(1)	8						C		0,4406		0,0,2203	136	104	115		1704	-11.7	0.5	8	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EXT1	NM_000127.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		568/747	118825129	1,13005	2203	4300	6503	118894310	SO:0001819	synonymous_variant	2131	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1704G>A	8.37:g.118825129C>T			118894310	B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	CCDS6324.1																																																																																				0.537	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		T	118825129	C	T	118825129	2	4	79	1	0	0	0	0	0	0	0	1	5323	639	23	1		1	EXT1	8	118825129	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	5498457	118825129	27538893	76	4040											
ZHX1	11244	genome.wustl.edu	37	8	124267211	124267211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr8:124267211C>A	ENST00000522655.1	-	3	1516	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.E326*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Nonsense_Mutation_p.E326*			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	326	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E326*(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGATCTGTTCCTCTGTATAT	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	8											206	205	205					8																	124267211		2203	4300	6503	124336392	SO:0001587	stop_gained	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.976G>T	8.37:g.124267211C>A	ENSP00000428821:p.Glu326*		124336392	Q8IWD8	Nonsense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.767490|9.767490	0.99259|0.99259	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	.|.	.|.	.|.	5.8|5.8	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71517	.|0.3349	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73956	.|-0.3819	.|3	0.87932|.	D|.	0|.	-7.5121|-7.5121	16.1995|16.1995	0.82060|0.82060	0.1343:0.8657:0.0:0.0|0.1343:0.8657:0.0:0.0	.|.	.|.	.|.	.|.	X|S	326|10	.|.	ENSP00000297857:E326X|.	E|R	-|-	1|3	0|2	ZHX1|ZHX1	124336392|124336392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.916000|5.916000	0.69981|0.69981	1.432000|1.432000	0.47375|0.47375	0.555000|0.555000	0.69702|0.69702	GAA|AGG		0.393	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			A	124267211	C	A	124267211	4	1	79	1	0	0	0	0	0	1	0	0	17675	864	30	3	1649	3	ZHX1	8	124267211	Nonsense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	5442082	124267211	22096811	77	4041											
FAM135B	51059	genome.wustl.edu	37	8	139180202	139180202	+	Silent	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr8:139180202G>A	ENST00000395297.1	-	12	1364	c.1194C>T	c.(1192-1194)atC>atT	p.I398I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	398								p.I398I(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AATCGCCGTCGATGTCCAGGC	0.557										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	ovary(2)	8											111	116	114					8																	139180202		2071	4223	6294	139249384	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1194C>T	8.37:g.139180202G>A			139249384	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.557	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139180202	G	A	139180202	2	1	79	1	0	0	0	0	0	0	0	1	5449	1048	37	1		1	FAM135B	8	139180202	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	14912991	139180202	7183820	78	4042											
KIAA2026	158358	genome.wustl.edu	37	9	5969314	5969314	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr9:5969314G>C	ENST00000399933.3	-	3	916	c.917C>G	c.(916-918)gCt>gGt	p.A306G	KIAA2026_ENST00000381461.2_Missense_Mutation_p.A306G	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	306								p.A306G(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGCCCAATAGCTGGAATTTC	0.398																																																1	Substitution - Missense(1)	ovary(1)	9											80	73	75					9																	5969314		1849	4088	5937	5959314	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.917C>G	9.37:g.5969314G>C	ENSP00000382815:p.Ala306Gly		5959314	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.102103	0.76983	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	5.85	5.85	0.93711	.	0.000000	0.48767	U	0.000166	T	0.78342	0.4268	M	0.63843	1.955	0.58432	D	0.999997	D	0.67145	0.996	D	0.71656	0.974	T	0.78568	-0.2154	9	0.72032	D	0.01	.	20.1663	0.98152	0.0:0.0:1.0:0.0	.	306	Q5HYC2	K2026_HUMAN	G	306;306;239	.	ENSP00000370870:A306G	A	-	2	0	KIAA2026	5959314	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.439000	0.97543	2.773000	0.95371	0.585000	0.79938	GCT		0.398	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		C	5969314	G	C	5969314	3	2	79	1	0	0	0	0	1	0	0	0	8270	971	34	3	5418	3	KIAA2026	9	5969314	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09		5969314	135244117	79	4043											
UNC13B	10497	genome.wustl.edu	37	9	35403794	35403794	+	Missense_Mutation	SNP	G	G	A	rs371689397		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr9:35403794G>A	ENST00000378495.3	+	39	4762	c.4540G>A	c.(4540-4542)Gtg>Atg	p.V1514M	UNC13B_ENST00000378496.4_Missense_Mutation_p.V1533M|ATP8B5P_ENST00000430846.1_RNA|UNC13B_ENST00000396787.1_Missense_Mutation_p.V1545M	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1514	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.V1514M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGATATGCGTGAAGGATTA	0.562																																																1	Substitution - Missense(1)	ovary(1)	9						G	MET/VAL	0,4406		0,0,2203	87	81	83		4540	5.9	1	9		83	1,8597	1.2+/-3.3	0,1,4298	no	missense	UNC13B	NM_006377.3	21	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1514/1592	35403794	1,13003	2203	4299	6502	35393794	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4540G>A	9.37:g.35403794G>A	ENSP00000367756:p.Val1514Met		35393794	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926797	0.92319	0.0	1.16E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.86164	-2.08;-2.08;-2.08	5.93	5.93	0.95920	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95937	0.8943	10	0.87932	D	0	-18.5213	20.3368	0.98748	0.0:0.0:1.0:0.0	.	1533;1514	F8W8M9;O14795	.;UN13B_HUMAN	M	1545;1514;1533;1120	ENSP00000380006:V1545M;ENSP00000367756:V1514M;ENSP00000367757:V1533M	ENSP00000367756:V1514M	V	+	1	0	UNC13B	35393794	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.760000	0.98935	2.805000	0.96524	0.655000	0.94253	GTG		0.562	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		A	35403794	G	A	35403794	3	1	79	1	0	0	0	0	1	0	0	0	16985	1145	40	1	4694	1	UNC13B	9	35403794	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	29434480	35403794	105809637	80	4044											
ZBTB5	9925	genome.wustl.edu	37	9	37442187	37442187	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr9:37442187G>T	ENST00000307750.4	-	2	550	c.362C>A	c.(361-363)aCa>aAa	p.T121K		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T121K(1)		NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CAGCGTCCTTGTCGTTAAGTA	0.532																																																1	Substitution - Missense(1)	ovary(1)	9											97	89	92					9																	37442187		2203	4300	6503	37432187	SO:0001583	missense	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.362C>A	9.37:g.37442187G>T	ENSP00000307604:p.Thr121Lys		37432187		Missense_Mutation	SNP	ENST00000307750.4	37	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935859	0.73442	.	.	ENSG00000168795	ENST00000307750	T	0.65916	-0.18	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	N	0.11427	0.14	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.57642	-0.7776	10	0.11794	T	0.64	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	121	O15062	ZBTB5_HUMAN	K	121	ENSP00000307604:T121K	ENSP00000307604:T121K	T	-	2	0	ZBTB5	37432187	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.211000	0.77933	2.884000	0.98904	0.655000	0.94253	ACA		0.532	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		T	37442187	G	T	37442187	3	4	79	1	0	0	0	0	1	0	0	0	17551	1377	48	3	1675	3	ZBTB5	9	37442187	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	2038393	37442187	103771244	81	4045											
C9orf129	445577	genome.wustl.edu	37	9	96080830	96080830	+	Splice_Site	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr9:96080830T>A	ENST00000375419.1	-	5	804	c.441A>T	c.(439-441)gcA>gcT	p.A147A	WNK2_ENST00000395477.2_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000471076.1_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	147								p.A147A(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						GCCAGTGGGCTGCTGTGAGTG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	9											85	93	90					9																	96080830		2103	4226	6329	95120651	SO:0001630	splice_region_variant	445577				CCDS43850.1	9q22.31	2012-04-02			ENSG00000204352	ENSG00000204352			31116	protein-coding gene	gene with protein product							Standard	NM_001098808		Approved	bA165J3.3	uc010mre.3	Q5T035	OTTHUMG00000020248	ENST00000375419.1:c.440-1A>T	9.37:g.96080830T>A			95120651		Silent	SNP	ENST00000375419.1	37	CCDS43850.1																																																																																				0.587	C9orf129-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053147.1	NM_001098808	Silent	A	96080830	T	A	96080830	5	1	79	1	0	0	0	0	0	0	1	0	2456	1594	55	5	153	5	C9orf129	9	96080830	Splice_Site	SNP	T	TCGA-13-0760-01A-01W-0372-09	58638643	96080830	45132601	82	4046											
TLR4	7099	genome.wustl.edu	37	9	120470866	120470866	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr9:120470866G>T	ENST00000355622.6	+	2	220	c.119G>T	c.(118-120)tGc>tTc	p.C40F	TLR4_ENST00000394487.4_5'UTR|RNU6-1082P_ENST00000364574.1_RNA|TLR4_ENST00000472304.1_Intron	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	40					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.C40F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACTTATCAATGCATGGAGCTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	9											158	154	155					9																	120470866		2203	4300	6503	119510687	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.119G>T	9.37:g.120470866G>T	ENSP00000363089:p.Cys40Phe		119510687	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910307	0.72983	.	.	ENSG00000136869	ENST00000355622	T	0.59224	0.28	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.64404	1.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.76195	-0.3048	10	0.87932	D	0	.	17.9564	0.89070	0.0:0.0:1.0:0.0	.	40	O00206	TLR4_HUMAN	F	40	ENSP00000363089:C40F	ENSP00000363089:C40F	C	+	2	0	TLR4	119510687	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.993000	0.63895	2.750000	0.94351	0.655000	0.94253	TGC		0.458	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		T	120470866	G	T	120470866	3	4	79	1	0	0	0	0	1	0	0	0	15953	1319	46	3	125	3	TLR4	9	120470866	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	24390036	120470866	20742565	83	4047											
TLR4	7099	genome.wustl.edu	37	9	120476846	120476846	+	Missense_Mutation	SNP	G	G	A	rs55751501	byFrequency	TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr9:120476846G>A	ENST00000355622.6	+	3	2541	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	TLR4_ENST00000394487.4_Missense_Mutation_p.A774T|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	814	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A814T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACTCAGAAAAGCCCTGCTGGA	0.512													G|||	2	0.000399361	0	0	5008	,	,		19001	0.002		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9											96	100	99					9																	120476846		2203	4300	6503	119516667	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2440G>A	9.37:g.120476846G>A	ENSP00000363089:p.Ala814Thr		119516667	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299280	0.81136	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.03607	3.87;3.87	6.03	4.19	0.49359	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.167214	0.42682	D	0.000674	T	0.15003	0.0362	M	0.70595	2.14	0.43018	D	0.994561	D	0.89917	1.0	D	0.87578	0.998	T	0.00182	-1.1946	10	0.87932	D	0	.	10.0182	0.42027	0.0687:0.0:0.7943:0.137	rs55751501	814	O00206	TLR4_HUMAN	T	774;814	ENSP00000377997:A774T;ENSP00000363089:A814T	ENSP00000363089:A814T	A	+	1	0	TLR4	119516667	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	5.537000	0.67186	0.880000	0.35969	0.655000	0.94253	GCC		0.512	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		A	120476846	G	A	120476846	3	1	79	1	0	0	0	0	1	0	0	0	15953	971	34	2	2450	2	TLR4	9	120476846	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	5980	120476846	20736585	84	4048											
RPL35	11224	genome.wustl.edu	37	9	127620287	127620287	+	Silent	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr9:127620287C>T	ENST00000348462.3	-	4	330	c.282G>A	c.(280-282)cgG>cgA	p.R94R	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R94R(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCTTGTTGAGCCGGCGGCGCA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	9											43	36	39					9																	127620287		2203	4300	6503	126660108	SO:0001819	synonymous_variant	11224			U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"L ribosomal proteins"	10344	protein-coding gene	gene with protein product	"60S ribosomal protein L35"					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.282G>A	9.37:g.127620287C>T			126660108	A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Silent	SNP	ENST00000348462.3	37	CCDS6858.1																																																																																				0.627	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	NM_007209		T	127620287	C	T	127620287	2	4	79	1	0	0	0	0	0	0	0	1	13587	726	26	2		2	RPL35	9	127620287	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	7143441	127620287	13593144	85	4049											
PTER	9317	genome.wustl.edu	37	10	16526424	16526424	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr10:16526424T>C	ENST00000378000.1	+	3	287	c.41T>C	c.(40-42)cTt>cCt	p.L14P	PTER_ENST00000423462.2_Missense_Mutation_p.L14P|PTER_ENST00000298942.3_Missense_Mutation_p.L14P|PTER_ENST00000535784.2_Missense_Mutation_p.L14P	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	14					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.L14P(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GTTTTGGGCCTTGTAGAGCCA	0.463																																					Ovarian(2;46 150 15648 38137 47908)											1	Substitution - Missense(1)	ovary(1)	10											93	88	90					10																	16526424		2203	4300	6503	16566430	SO:0001583	missense	9317			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.41T>C	10.37:g.16526424T>C	ENSP00000367239:p.Leu14Pro		16566430	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	T	4.317	0.058116	0.08339	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	6.08	1.19	0.21007	.	0.563001	0.21139	N	0.079520	T	0.10852	0.0265	N	0.01631	-0.79	0.52099	D	0.999949	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.36237	-0.9756	10	0.02654	T	1	-6.2455	10.5475	0.45068	0.0:0.391:0.0:0.609	.	14;14	Q96BW5-2;Q96BW5	.;PTER_HUMAN	P	14	ENSP00000439485:L14P;ENSP00000389535:L14P;ENSP00000367239:L14P;ENSP00000298942:L14P	ENSP00000298942:L14P	L	+	2	0	PTER	16566430	0.000000	0.05858	0.190000	0.23270	0.373000	0.29922	-0.214000	0.09292	0.171000	0.19730	0.533000	0.62120	CTT		0.463	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		C	16526424	T	C	16526424	3	2	79	1	0	0	0	0	1	0	0	0	12742	1609	56	4	43	4	PTER	10	16526424	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09		16526424	119008323	86	4050											
ARHGAP21	57584	genome.wustl.edu	37	10	24908437	24908437	+	Missense_Mutation	SNP	G	G	T	rs138158463		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr10:24908437G>T	ENST00000396432.2	-	9	2873	c.2387C>A	c.(2386-2388)cCg>cAg	p.P796Q	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P583Q	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	795					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.P795Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATCGCCAGGCGGACTGGTACT	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											83	86	85					10																	24908437		2203	4300	6503	24948443	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2387C>A	10.37:g.24908437G>T	ENSP00000379709:p.Pro796Gln		24948443	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026995	0.54683	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.25	5.25	0.73442	.	0.294778	0.39544	N	0.001328	T	0.59115	0.2170	L	0.40543	1.245	0.33453	D	0.583922	D;D	0.67145	0.996;0.993	P;P	0.62382	0.901;0.798	T	0.64960	-0.6284	10	0.40728	T	0.16	.	19.2213	0.93797	0.0:0.0:1.0:0.0	.	786;795	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Q	796;583;786;796;631	ENSP00000379709:P796Q;ENSP00000365604:P583Q;ENSP00000365592:P786Q;ENSP00000405018:P796Q	ENSP00000365604:P583Q	P	-	2	0	ARHGAP21	24948443	1.000000	0.71417	0.123000	0.21794	0.808000	0.45660	6.880000	0.75578	2.590000	0.87494	0.655000	0.94253	CCG		0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		T	24908437	G	T	24908437	3	4	79	1	0	0	0	0	1	0	0	0	871	1116	39	3	3561	3	ARHGAP21	10	24908437	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	8382013	24908437	110626310	87	4051											
PTCHD3	374308	genome.wustl.edu	37	10	27687651	27687651	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr10:27687651C>G	ENST00000438700.3	-	4	1993	c.1876G>C	c.(1876-1878)Ggt>Cgt	p.G626R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	626					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.G626R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGTCTAAACCTTCCTGCACA	0.388																																																1	Substitution - Missense(1)	ovary(1)	10											80	79	79					10																	27687651		2203	4300	6503	27727657	SO:0001583	missense	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1876G>C	10.37:g.27687651C>G	ENSP00000417658:p.Gly626Arg		27727657	I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.840196	0.71488	.	.	ENSG00000182077	ENST00000438700	D	0.86164	-2.08	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	M	0.84683	2.71	0.53005	D	0.999969	D	0.55172	0.97	D	0.67382	0.951	D	0.94612	0.7805	10	0.66056	D	0.02	-15.8192	16.3031	0.82832	0.0:1.0:0.0:0.0	.	626	Q3KNS1	PTHD3_HUMAN	R	626	ENSP00000417658:G626R	ENSP00000417658:G626R	G	-	1	0	PTCHD3	27727657	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	4.580000	0.60942	2.173000	0.68751	0.484000	0.47621	GGT		0.388	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		G	27687651	C	G	27687651	3	3	79	1	0	0	0	0	1	0	0	0	12737	681	24	3	431	3	PTCHD3	10	27687651	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	2779214	27687651	107847096	88	4052											
ZNF488	118738	genome.wustl.edu	37	10	48371106	48371106	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr10:48371106C>A	ENST00000395702.2	+	2	801	c.574C>A	c.(574-576)Ctg>Atg	p.L192M	ZNF488_ENST00000586537.1_Missense_Mutation_p.L85M|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	192					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L192M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTGGGGGAGCTGTCTGGACT	0.537																																																1	Substitution - Missense(1)	ovary(1)	10											102	98	99					10																	48371106		2203	4300	6503	47991112	SO:0001583	missense	118738			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.574C>A	10.37:g.48371106C>A	ENSP00000379054:p.Leu192Met		47991112	Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469075	0.43839	.	.	ENSG00000165388	ENST00000395702	T	0.26518	1.73	5.55	4.51	0.55191	.	0.096997	0.44902	D	0.000401	T	0.41119	0.1145	M	0.63843	1.955	0.23043	N	0.998385	D	0.67145	0.996	P	0.62435	0.902	T	0.24297	-1.0164	10	0.56958	D	0.05	.	8.2082	0.31467	0.0:0.7941:0.0:0.2059	.	192	Q96MN9	ZN488_HUMAN	M	192	ENSP00000379054:L192M	ENSP00000379054:L192M	L	+	1	2	ZNF488	47991112	0.737000	0.28175	0.015000	0.15790	0.588000	0.36517	0.592000	0.23984	1.093000	0.41377	0.561000	0.74099	CTG		0.537	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		A	48371106	C	A	48371106	3	1	79	1	0	0	0	0	1	0	0	0	17940	796	28	3	576	3	ZNF488	10	48371106	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	20683455	48371106	87163641	89	4053											
CYP2C19	1557	genome.wustl.edu	37	10	96612532	96612532	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr10:96612532T>A	ENST00000371321.3	+	9	1416	c.1334T>A	c.(1333-1335)cTg>cAg	p.L445Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	445					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.L445Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CGCATGGAGCTGTTTTTATTC	0.428																																																1	Substitution - Missense(1)	ovary(1)	10											143	134	137					10																	96612532		2203	4300	6503	96602522	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1334T>A	10.37:g.96612532T>A	ENSP00000360372:p.Leu445Gln		96602522	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664379	0.67700	.	.	ENSG00000165841	ENST00000371321	T	0.73047	-0.71	3.2	3.2	0.36748	.	0.343652	0.22291	U	0.061987	D	0.88134	0.6355	H	0.97587	4.035	0.33748	D	0.620244	D	0.89917	1.0	D	0.91635	0.999	D	0.91794	0.5446	10	0.87932	D	0	.	9.787	0.40681	0.0:0.0:0.0:1.0	.	445	P33261	CP2CJ_HUMAN	Q	445	ENSP00000360372:L445Q	ENSP00000360372:L445Q	L	+	2	0	CYP2C19	96602522	1.000000	0.71417	0.987000	0.45799	0.860000	0.49131	6.876000	0.75556	1.228000	0.43614	0.491000	0.48974	CTG		0.428	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		A	96612532	T	A	96612532	3	1	79	1	0	0	0	0	1	0	0	0	4166	1580	55	5	1368	5	CYP2C19	10	96612532	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	48241426	96612532	38922215	90	4054											
CCDC147	159686	genome.wustl.edu	37	10	106118153	106118153	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr10:106118153G>C	ENST00000369704.3	+	2	198	c.64G>C	c.(64-66)Gat>Cat	p.D22H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		22						extracellular space (GO:0005615)		p.D22H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AATGGAAAGAGATTTTCAGGG	0.383																																																1	Substitution - Missense(1)	ovary(1)	10											47	49	49					10																	106118153		2203	4300	6503	106108143	SO:0001583	missense	159686																														ENST00000369704.3:c.64G>C	10.37:g.106118153G>C	ENSP00000358718:p.Asp22His		106108143	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808881	0.50421	.	.	ENSG00000120051	ENST00000369704	T	0.36157	1.27	5.31	5.31	0.75309	.	0.194253	0.53938	D	0.000054	T	0.61949	0.2388	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.61623	-0.7025	10	0.46703	T	0.11	-25.8739	19.3406	0.94339	0.0:0.0:1.0:0.0	.	22	Q5T655	CC147_HUMAN	H	22	ENSP00000358718:D22H	ENSP00000358718:D22H	D	+	1	0	CCDC147	106108143	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	6.552000	0.73914	2.636000	0.89361	0.655000	0.94253	GAT		0.383	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			C	106118153	G	C	106118153	3	2	79	1	0	0	0	0	1	0	0	0	2781	942	33	3	70	3	CCDC147	10	106118153	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	9505621	106118153	29416594	91	4055											
TCF7L2	6934	genome.wustl.edu	37	10	114849161	114849161	+	Intron	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr10:114849161C>G	ENST00000355995.4	+	5	1059				TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000349937.2_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000355717.4_Missense_Mutation_p.S162R|TCF7L2_ENST00000369395.1_Missense_Mutation_p.S163R|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000534894.1_Intron|TCF7L2_ENST00000542695.1_Intron|TCF7L2_ENST00000369397.4_Intron|TCF7L2_ENST00000352065.5_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L164fs*29(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGCAGCAGAGCCCCCTCCCTT	0.587			T	VTI1A	colorectal																																		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	1	Deletion - Frameshift(1)	large_intestine(1)	10											42	38	40					10																	114849161		1568	3582	5150	114839151	SO:0001627	intron_variant	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.552+49276C>G	10.37:g.114849161C>G			114839151	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	C	12.50	1.955167	0.34471	.	.	ENSG00000148737	ENST00000355717;ENST00000369395;ENST00000346198	D	0.99527	-6.09	4.4	1.57	0.23409	.	0.387194	0.22518	N	0.059014	D	0.96309	0.8796	N	0.08118	0	0.80722	D	1	B;B;B	0.31752	0.338;0.044;0.255	B;B;B	0.35114	0.196;0.09;0.126	D	0.92986	0.6410	10	0.49607	T	0.09	.	6.2504	0.20842	0.0:0.6902:0.0:0.3098	.	32;57;162	B4DWD5;C6ZRJ6;F8W7T5	.;.;.	R	162;163;132	ENSP00000347949:S162R	ENSP00000345640:S132R	S	+	3	2	TCF7L2	114839151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.566000	0.23593	0.371000	0.24564	0.655000	0.94253	AGC		0.587	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		G	114849161	C	G	114849161	1	3	79	0	1	0	0	0	0	0	0	0	15698	738	26	3		3	TCF7L2	10	114849161	Intron	SNP	C	TCGA-13-0760-01A-01W-0372-09	8731008	114849161	20685586	92	4056											
BAG3	9531	genome.wustl.edu	37	10	121432113	121432113	+	Missense_Mutation	SNP	C	C	T	rs375650805		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr10:121432113C>T	ENST00000369085.3	+	3	1160	c.854C>T	c.(853-855)aCg>aTg	p.T285M		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	285					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)		p.T285M(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGGAGCAGCACGCCACTCCAC	0.657													C|||	1	0.000199681	0	0	5008	,	,		17941	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	10						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	44	51	49		854	5.8	1	10		49	0,8600		0,0,4300	no	missense	BAG3	NM_004281.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	285/576	121432113	1,13005	2203	4300	6503	121422103	SO:0001583	missense	9531			AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.854C>T	10.37:g.121432113C>T	ENSP00000358081:p.Thr285Met		121422103	A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407613	0.42715	2.27E-4	0.0	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74947	-0.79;-0.89	5.81	5.81	0.92471	.	0.301525	0.36665	N	0.002478	T	0.55924	0.1951	L	0.27053	0.805	0.09310	N	0.999999	P;P	0.36733	0.567;0.567	B;B	0.19666	0.026;0.026	T	0.56475	-0.7973	10	0.42905	T	0.14	-6.1024	11.2192	0.48844	0.1411:0.7226:0.1363:0.0	.	285;285	O95817;Q53GY1	BAG3_HUMAN;.	M	285;227	ENSP00000358081:T285M;ENSP00000410036:T227M	ENSP00000358081:T285M	T	+	2	0	BAG3	121422103	0.785000	0.28726	0.964000	0.40570	0.061000	0.15899	2.865000	0.48412	2.752000	0.94435	0.467000	0.42956	ACG		0.657	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		T	121432113	C	T	121432113	3	4	79	1	0	0	0	0	1	0	0	0	1288	536	19	1	864	1	BAG3	10	121432113	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	6582952	121432113	14102634	93	4057											
PAMR1	25891	genome.wustl.edu	37	11	35454023	35454023	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:35454023G>A	ENST00000378880.2	-	11	2489	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	PAMR1_ENST00000278360.3_Missense_Mutation_p.R699C|PAMR1_ENST00000532848.1_Missense_Mutation_p.R642C|PAMR1_ENST00000378878.3_Missense_Mutation_p.R571C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	682	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R699C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGATGCCAGCGTGGCTCAGGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	11											81	77	78					11																	35454023		2202	4298	6500	35410599	SO:0001583	missense	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.2044C>T	11.37:g.35454023G>A	ENSP00000368158:p.Arg682Cys		35410599	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161825	0.38217	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	5.34	3.35	0.38373	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.239569	0.41001	D	0.000971	D	0.94598	0.8259	M	0.83223	2.63	0.21878	N	0.999497	D;P;D	0.69078	0.997;0.895;0.963	P;B;B	0.50490	0.642;0.438;0.431	D	0.89524	0.3780	10	0.87932	D	0	.	13.3905	0.60821	0.0:0.0:0.5602:0.4398	.	571;682;699	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	C	699;682;571;642;659	ENSP00000278360:R699C;ENSP00000368158:R682C;ENSP00000368156:R571C;ENSP00000433868:R642C;ENSP00000432591:R659C	ENSP00000278360:R699C	R	-	1	0	PAMR1	35410599	0.270000	0.24152	0.190000	0.23270	0.379000	0.30106	2.232000	0.43018	1.374000	0.46228	0.561000	0.74099	CGC		0.572	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		A	35454023	G	A	35454023	3	1	79	1	0	0	0	0	1	0	0	0	11413	1145	40	1	122	1	PAMR1	11	35454023	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09		35454023	99552493	94	4058											
TTC17	55761	genome.wustl.edu	37	11	43465707	43465707	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:43465707C>G	ENST00000039989.4	+	18	2627	c.2613C>G	c.(2611-2613)taC>taG	p.Y871*	TTC17_ENST00000299240.6_Nonsense_Mutation_p.Y928*|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	871					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Y871*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GACATCGTTACCAAGCAAACC	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	11											82	81	81					11																	43465707		2203	4300	6503	43422283	SO:0001587	stop_gained	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2613C>G	11.37:g.43465707C>G	ENSP00000039989:p.Tyr871*		43422283	G3XAB3|Q8NEC0	Nonsense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	38	6.675900	0.97755	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	.	.	.	5.9	4.81	0.61882	.	0.620040	0.18259	N	0.146704	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5234	14.2126	0.65773	0.0:0.9195:0.0:0.0805	.	.	.	.	X	928;871	.	ENSP00000039989:Y871X	Y	+	3	2	TTC17	43422283	0.994000	0.37717	0.991000	0.47740	0.977000	0.68977	1.936000	0.40183	2.798000	0.96311	0.650000	0.86243	TAC		0.403	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		G	43465707	C	G	43465707	4	3	79	1	0	0	0	0	0	1	0	0	16684	518	18	3	2683	3	TTC17	11	43465707	Nonsense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	8011684	43465707	91540809	95	4059											
PSMC3	5702	genome.wustl.edu	37	11	47445638	47445638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:47445638G>A	ENST00000298852.3	-	6	707	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	PSMC3_ENST00000602866.1_Nonsense_Mutation_p.Q168*|PSMC3_ENST00000530912.1_Nonsense_Mutation_p.Q142*	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	184					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q184*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCACTGTATTGCTCCGTGGGC	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	11											242	188	207					11																	47445638		2201	4298	6499	47402214	SO:0001587	stop_gained	5702			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.550C>T	11.37:g.47445638G>A	ENSP00000298852:p.Gln184*		47402214	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Nonsense_Mutation	SNP	ENST00000298852.3	37	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702820	0.88924	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906	.	.	.	5.42	5.42	0.78866	.	0.110501	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-14.7155	19.2234	0.93808	0.0:0.0:1.0:0.0	.	.	.	.	X	184;142;128;149;149;149	.	ENSP00000298852:Q184X	Q	-	1	0	PSMC3	47402214	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.534000	0.85438	0.655000	0.94253	CAA		0.562	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		A	47445638	G	A	47445638	4	1	79	1	0	0	0	0	0	1	0	0	12690	1328	46	2	797	2	PSMC3	11	47445638	Nonsense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	3979931	47445638	87560878	96	4060											
OR5D18	219438	genome.wustl.edu	37	11	55587291	55587291	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:55587291T>G	ENST00000333976.4	+	1	206	c.186T>G	c.(184-186)ttT>ttG	p.F62L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F62L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCATGTACTTTTTCCTCAGCC	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											257	237	244					11																	55587291		2200	4296	6496	55343867	SO:0001583	missense	219438			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.186T>G	11.37:g.55587291T>G	ENSP00000335025:p.Phe62Leu		55343867	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.641444	0.47153	.	.	ENSG00000186119	ENST00000333976	T	0.00551	6.65	4.94	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001140	T	0.00724	0.0024	M	0.74467	2.265	0.31498	N	0.665149	P	0.35872	0.525	B	0.36418	0.224	T	0.25187	-1.0139	10	0.62326	D	0.03	-37.1952	8.539	0.33382	0.0:0.441:0.0:0.559	.	62	Q8NGL1	OR5DI_HUMAN	L	62	ENSP00000335025:F62L	ENSP00000335025:F62L	F	+	3	2	OR5D18	55343867	0.159000	0.22864	0.999000	0.59377	0.998000	0.95712	-0.329000	0.07935	0.048000	0.15891	0.514000	0.50259	TTT		0.423	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		G	55587291	T	G	55587291	3	3	79	1	0	0	0	0	1	0	0	0	11157	1838	64	5	188	5	OR5D18	11	55587291	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	8141653	55587291	79419225	97	4061											
STIP1	10963	genome.wustl.edu	37	11	63961672	63961672	+	Silent	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:63961672A>G	ENST00000305218.4	+	3	378	c.231A>G	c.(229-231)cgA>cgG	p.R77R	STIP1_ENST00000543847.1_Silent_p.R77R|STIP1_ENST00000538945.1_Intron|STIP1_ENST00000358794.5_Silent_p.R124R|STIP1_ENST00000540501.1_3'UTR	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	77					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R77R(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GCTATTCACGAAAAGCAGCAG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	11											121	125	124					11																	63961672		2201	4297	6498	63718248	SO:0001819	synonymous_variant	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.231A>G	11.37:g.63961672A>G			63718248	B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	ENST00000305218.4	37	CCDS8058.1																																																																																				0.413	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		G	63961672	A	G	63961672	2	3	79	1	0	0	0	0	0	0	0	1	15287	233	9	4		4	STIP1	11	63961672	Silent	SNP	A	TCGA-13-0760-01A-01W-0372-09	8374381	63961672	71044844	98	4062											
RELA	5970	genome.wustl.edu	37	11	65427643	65427643	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:65427643C>G	ENST00000406246.3	-	5	640	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	RELA_ENST00000308639.9_Missense_Mutation_p.E127Q|RELA_ENST00000525693.1_Missense_Mutation_p.E127Q	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	127	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)	p.E127Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						ATAGCCTGCTCCAGGTCCCGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											187	166	173					11																	65427643		2201	4297	6498	65184219	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.379G>C	11.37:g.65427643C>G	ENSP00000384273:p.Glu127Gln		65184219	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447560	0.63178	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749;ENST00000532879	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.86	4.86	0.63082	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.307559	0.33712	N	0.004625	T	0.56217	0.1970	M	0.77103	2.36	0.42940	D	0.994349	P;P;P;P;P;P	0.48589	0.904;0.912;0.858;0.834;0.871;0.623	B;B;B;P;P;B	0.46685	0.379;0.314;0.157;0.448;0.524;0.338	T	0.61987	-0.6949	10	0.41790	T	0.15	-15.2576	15.4734	0.75458	0.0:1.0:0.0:0.0	.	127;114;127;127;138;127	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	Q	127;127;127;127;138;138;118;96;127	ENSP00000384273:E127Q;ENSP00000432537:E127Q;ENSP00000311508:E127Q;ENSP00000433526:E138Q;ENSP00000434372:E118Q;ENSP00000436545:E96Q;ENSP00000431153:E127Q	ENSP00000311508:E127Q	E	-	1	0	RELA	65184219	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	2.792000	0.47837	2.245000	0.73994	0.455000	0.32223	GAG		0.612	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		G	65427643	C	G	65427643	3	3	79	1	0	0	0	0	1	0	0	0	13219	864	30	3	1304	3	RELA	11	65427643	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	1465971	65427643	69578873	99	4063											
RBM4	5936	genome.wustl.edu	37	11	66411583	66411583	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:66411583G>A	ENST00000409406.1	+	2	1852	c.1075G>A	c.(1075-1077)Gcg>Acg	p.A359T	RBM4_ENST00000310092.7_Missense_Mutation_p.A359T|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Missense_Mutation_p.A334T|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.A334T|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.A359T|RBM4_ENST00000408993.2_Missense_Mutation_p.A359T|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	359	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A359T(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TGCCGATCGGGCGCGGTACTC	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											48	52	51					11																	66411583		2047	4224	6271	66168159	SO:0001583	missense	5936			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.1075G>A	11.37:g.66411583G>A	ENSP00000386894:p.Ala359Thr		66168159	B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442559	0.63067	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000409406	T;T;T;T;T	0.51325	0.71;1.52;1.52;1.52;1.52	6.17	6.17	0.99709	.	0.224065	0.35838	U	0.002945	T	0.43188	0.1236	L	0.45581	1.43	0.32811	D	0.501438	B;B	0.26081	0.141;0.001	B;B	0.20955	0.032;0.001	T	0.49707	-0.8911	10	0.34782	T	0.22	-5.5939	16.3795	0.83443	0.0:0.0:1.0:0.0	.	334;359	B0LM41;Q9BWF3	.;RBM4_HUMAN	T	334;359;359;359;359;359	ENSP00000388552:A334T;ENSP00000425760:A359T;ENSP00000309166:A359T;ENSP00000386561:A359T;ENSP00000386894:A359T	ENSP00000388552:A334T	A	+	1	0	RBM4;RBM14-RBM4	66168159	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.720000	0.61944	2.941000	0.99782	0.655000	0.94253	GCG		0.577	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		A	66411583	G	A	66411583	3	1	79	1	0	0	0	0	1	0	0	0	13137	1203	42	2	1081	2	RBM4	11	66411583	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	983940	66411583	68594933	100	4064											
KDM2A	22992	genome.wustl.edu	37	11	67022386	67022386	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:67022386C>T	ENST00000529006.2	+	21	3795	c.3349C>T	c.(3349-3351)Cgc>Tgc	p.R1117C	KDM2A_ENST00000530342.1_Missense_Mutation_p.R678C|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.R575C|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1117					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R1117C(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTACCTACGGCGCATTGCCAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											98	93	95					11																	67022386		2033	4202	6235	66778962	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3349C>T	11.37:g.67022386C>T	ENSP00000432786:p.Arg1117Cys		66778962	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287384	0.80803	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.47869	0.83;0.83;0.83	5.32	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.71634	0.3363	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.78319	-0.2250	10	0.87932	D	0	-15.4951	15.6786	0.77349	0.1375:0.8625:0.0:0.0	.	678;1117	E9PIL6;Q9Y2K7	.;KDM2A_HUMAN	C	1117;678;575	ENSP00000432786:R1117C;ENSP00000435776:R678C;ENSP00000309302:R575C	ENSP00000309302:R575C	R	+	1	0	KDM2A	66778962	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.864000	0.69575	1.445000	0.47624	0.655000	0.94253	CGC		0.493	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		T	67022386	C	T	67022386	3	4	79	1	0	0	0	0	1	0	0	0	8124	768	27	1	3427	1	KDM2A	11	67022386	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	610803	67022386	67984130	101	4065											
SUV420H1	51111	genome.wustl.edu	37	11	67925530	67925530	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:67925530C>A	ENST00000304363.4	-	11	2636	c.2283G>T	c.(2281-2283)aaG>aaT	p.K761N		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	761					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.K761N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CATTATTAAGCTTTGCTACAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	11											185	194	191					11																	67925530		2200	4294	6494	67682106	SO:0001583	missense	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2283G>T	11.37:g.67925530C>A	ENSP00000305899:p.Lys761Asn		67682106	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996338	0.54147	.	.	ENSG00000110066	ENST00000304363	T	0.62105	0.05	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75566	-0.3273	10	0.87932	D	0	-29.0322	19.0025	0.92839	0.0:1.0:0.0:0.0	.	761	Q4FZB7	SV421_HUMAN	N	761	ENSP00000305899:K761N	ENSP00000305899:K761N	K	-	3	2	SUV420H1	67682106	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.678000	0.54627	2.507000	0.84556	0.313000	0.20887	AAG		0.368	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		A	67925530	C	A	67925530	3	1	79	1	0	0	0	0	1	0	0	0	15414	796	28	3	378	3	SUV420H1	11	67925530	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	903144	67925530	67080986	102	4066											
CREBZF	58487	genome.wustl.edu	37	11	85375255	85375255	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:85375255C>A	ENST00000527447.1	-	1	891	c.665G>T	c.(664-666)cGa>cTa	p.R222L	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.R140L|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	222	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R222L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				CTTCTTCAGTCGATTAAGGCG	0.667											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)											1	Substitution - Missense(1)	ovary(1)	11											42	47	46					11																	85375255		1869	4070	5939	85052903	SO:0001583	missense	58487			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.665G>T	11.37:g.85375255C>A	ENSP00000433459:p.Arg222Leu	1236	85052903	B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307408	0.81247	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	D;D	0.94232	-3.38;-3.38	4.89	4.89	0.63831	Basic-leucine zipper (bZIP) transcription factor (1);bZIP transcription factor, bZIP-1 (1);	0.106439	0.35903	N	0.002915	D	0.96097	0.8728	M	0.67700	2.07	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.95563	0.8631	9	.	.	.	-27.8054	17.8796	0.88837	0.0:1.0:0.0:0.0	.	222	Q9NS37	ZHANG_HUMAN	L	140;222	ENSP00000381342:R140L;ENSP00000433459:R222L	.	R	-	2	0	CREBZF	85052903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.111000	0.64628	2.542000	0.85734	0.655000	0.94253	CGA		0.667	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		A	85375255	C	A	85375255	3	1	79	1	0	0	0	0	1	0	0	0	3863	884	31	3	403	3	CREBZF	11	85375255	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	17449725	85375255	49631261	103	4067											
GPR83	10888	genome.wustl.edu	37	11	94113378	94113378	+	Silent	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:94113378G>T	ENST00000243673.2	-	4	1380	c.1209C>A	c.(1207-1209)acC>acA	p.T403T	GPR83_ENST00000539203.2_Silent_p.T361T	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	403					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.T403T(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAGTTGGGAGGTGGGCAGGA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	11											67	70	69					11																	94113378		2201	4298	6499	93753026	SO:0001819	synonymous_variant	10888			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1209C>A	11.37:g.94113378G>T			93753026	B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	CCDS8297.1																																																																																				0.577	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		T	94113378	G	T	94113378	2	4	79	1	0	0	0	0	0	0	0	1	6713	987	35	3		3	GPR83	11	94113378	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	8738123	94113378	40893138	104	4068											
ZNF202	7753	genome.wustl.edu	37	11	123597493	123597493	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:123597493T>C	ENST00000529691.1	-	7	1378	c.1159A>G	c.(1159-1161)Aca>Gca	p.T387A	ZNF202_ENST00000530393.1_Missense_Mutation_p.T387A|ZNF202_ENST00000336139.4_Missense_Mutation_p.T387A			O95125	ZN202_HUMAN	zinc finger protein 202	387					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T387A(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGGACGGGTGTAGTTTCCCGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											89	93	92					11																	123597493		2202	4299	6501	123102703	SO:0001583	missense	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1159A>G	11.37:g.123597493T>C	ENSP00000433881:p.Thr387Ala		123102703	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.498482	0.00157	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.06142	3.34;3.34;3.34	4.41	-1.12	0.09808	.	0.513863	0.18630	N	0.135608	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.45920	-0.9228	10	0.17369	T	0.5	-0.0948	5.007	0.14293	0.0:0.1769:0.2903:0.5327	.	387	O95125	ZN202_HUMAN	A	387	ENSP00000337724:T387A;ENSP00000432504:T387A;ENSP00000433881:T387A	ENSP00000337724:T387A	T	-	1	0	ZNF202	123102703	0.000000	0.05858	0.014000	0.15608	0.038000	0.13279	-2.289000	0.01149	0.006000	0.14734	0.533000	0.62120	ACA		0.438	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		C	123597493	T	C	123597493	3	2	79	1	0	0	0	0	1	0	0	0	17763	1638	57	4	791	4	ZNF202	11	123597493	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	29484115	123597493	11409023	105	4069											
VSIG2	23584	genome.wustl.edu	37	11	124618354	124618354	+	Silent	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:124618354G>A	ENST00000326621.5	-	6	883	c.783C>T	c.(781-783)ttC>ttT	p.F261F	RP11-677M14.2_ENST00000531241.1_RNA|VSIG2_ENST00000403470.1_Silent_p.F261F	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	261						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.F261F(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TGACCAGGCAGAACGCAGCAA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	11											108	96	100					11																	124618354		2201	4299	6500	124123564	SO:0001819	synonymous_variant	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.783C>T	11.37:g.124618354G>A			124123564	O95791|Q9NX42	Silent	SNP	ENST00000326621.5	37	CCDS8452.1																																																																																				0.607	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		A	124618354	G	A	124618354	2	1	79	1	0	0	0	0	0	0	0	1	17224	933	33	2		2	VSIG2	11	124618354	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	1020861	124618354	10388162	106	4070											
ST14	6768	genome.wustl.edu	37	11	130070005	130070005	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr11:130070005A>C	ENST00000278742.5	+	16	2385	c.1967A>C	c.(1966-1968)cAc>cCc	p.H656P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	656	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.H656P(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCTGCCGCACACTGCTACATC	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											58	46	50					11																	130070005		2201	4297	6498	129575215	SO:0001583	missense	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1967A>C	11.37:g.130070005A>C	ENSP00000278742:p.His656Pro		129575215	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066265	0.55539	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.95724	-3.79	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39615	N	0.001318	D	0.98767	0.9585	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99552	1.0966	10	0.87932	D	0	.	15.3011	0.73952	1.0:0.0:0.0:0.0	.	656	Q9Y5Y6	ST14_HUMAN	P	656;558	ENSP00000278742:H656P	ENSP00000278742:H656P	H	+	2	0	ST14	129575215	1.000000	0.71417	0.991000	0.47740	0.027000	0.11550	9.290000	0.96065	2.101000	0.63845	0.533000	0.62120	CAC		0.612	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			C	130070005	A	C	130070005	3	2	79	1	0	0	0	0	1	0	0	0	15213	159	6	5	2029	5	ST14	11	130070005	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	5451651	130070005	4936511	107	4071											
WNK1	65125	genome.wustl.edu	37	12	988974	988974	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:988974C>T	ENST00000315939.6	+	11	3252	c.2609C>T	c.(2608-2610)aCt>aTt	p.T870I	WNK1_ENST00000530271.2_Missense_Mutation_p.T1368I|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.T463I	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	870					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.T870I(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCTGGCATTACTCAGCCTCTG	0.532																																					Colon(19;451 567 6672 12618 28860)											1	Substitution - Missense(1)	ovary(1)	12											164	136	145					12																	988974		2203	4300	6503	859235	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2609C>T	12.37:g.988974C>T	ENSP00000313059:p.Thr870Ile		859235	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	9.224	1.034152	0.19590	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.75	0.691	0.18045	.	0.377586	0.25114	N	0.033031	T	0.06462	0.0166	N	0.08118	0	0.22819	N	0.998694	B	0.09022	0.002	B	0.04013	0.001	T	0.38112	-0.9676	10	0.18276	T	0.48	-3.875	5.4671	0.16650	0.5332:0.2662:0.2006:0.0	.	870	Q9H4A3	WNK1_HUMAN	I	870;1368;463;140	ENSP00000313059:T870I;ENSP00000433548:T1368I;ENSP00000341292:T463I;ENSP00000439552:T140I	ENSP00000313059:T870I	T	+	2	0	WNK1	859235	0.974000	0.33945	0.973000	0.42090	0.888000	0.51559	0.337000	0.19841	-0.114000	0.11936	-0.474000	0.04947	ACT		0.532	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		T	988974	C	T	988974	3	4	79	1	0	0	0	0	1	0	0	0	17377	565	20	2	4153	2	WNK1	12	988974	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09		988974	132862921	108	4072											
ERC1	23085	genome.wustl.edu	37	12	1553751	1553751	+	Silent	SNP	T	T	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:1553751T>G	ENST00000397203.2	+	18	3454	c.3048T>G	c.(3046-3048)ctT>ctG	p.L1016L	ERC1_ENST00000589028.1_Silent_p.L1016L|ERC1_ENST00000546231.2_Silent_p.L1020L|ERC1_ENST00000360905.4_Silent_p.L1016L|ERC1_ENST00000543086.3_Silent_p.L988L|ERC1_ENST00000355446.5_Silent_p.L1016L			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1016					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.L1016L(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TCTTAGAACTTGACCAAAATA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	12											65	74	71					12																	1553751		2203	4300	6503	1424012	SO:0001819	synonymous_variant	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.3048T>G	12.37:g.1553751T>G			1424012	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Silent	SNP	ENST00000397203.2	37	CCDS8508.1																																																																																				0.398	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		G	1553751	T	G	1553751	2	3	79	1	0	0	0	0	0	0	0	1	5210	1799	63	5		5	ERC1	12	1553751	Silent	SNP	T	TCGA-13-0760-01A-01W-0372-09	564777	1553751	132298144	109	4073											
CACNA1C	775	genome.wustl.edu	37	12	2224552	2224552	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:2224552C>A	ENST00000347598.4	+	2	212	c.212C>A	c.(211-213)gCg>gAg	p.A71E	CACNA1C_ENST00000399591.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A71E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A71E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A71E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A71E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A71E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A71E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A71E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	71					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A101E(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTGGCAATGCGACCATCTCC	0.692																																																1	Substitution - Missense(1)	ovary(1)	12																																								2094813	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.212C>A	12.37:g.2224552C>A	ENSP00000266376:p.Ala71Glu		2094813	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636334	0.67130	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96200	-3.88;-3.87;-3.9;-3.87;-3.87;-3.87;-3.89;-3.78;-3.83;-3.88;-3.78;-3.78;-3.88;-3.92;-3.79;-3.72;-3.94;-3.89;-3.87;-3.91;-3.81;-3.91;-3.94	5.58	5.58	0.84498	.	0.305040	0.25433	N	0.030703	D	0.95063	0.8401	L	0.29908	0.895	0.48452	D	0.999653	P;P;B;B;B;P;P;B;P;D;P;P;B;D;B;B;D;B;P;P	0.63046	0.667;0.667;0.003;0.364;0.212;0.667;0.553;0.16;0.853;0.992;0.667;0.553;0.113;0.992;0.003;0.212;0.992;0.212;0.667;0.667	P;B;B;B;B;B;B;B;P;P;B;B;B;P;B;B;P;B;B;B	0.56216	0.452;0.231;0.012;0.333;0.285;0.231;0.357;0.278;0.586;0.794;0.231;0.378;0.123;0.794;0.028;0.127;0.794;0.285;0.231;0.231	D	0.94028	0.7298	9	.	.	.	.	19.5768	0.95447	0.0:1.0:0.0:0.0	.	71;71;71;71;71;71;71;71;71;71;71;71;71;71;71;71;71;71;71;71	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	71	ENSP00000336982:A71E;ENSP00000382563:A71E;ENSP00000437936:A71E;ENSP00000382552:A71E;ENSP00000382547:A71E;ENSP00000382506:A71E;ENSP00000382530:A71E;ENSP00000382546:A71E;ENSP00000382500:A71E;ENSP00000382549:A71E;ENSP00000266376:A71E;ENSP00000382515:A71E;ENSP00000382510:A71E;ENSP00000341092:A71E;ENSP00000382537:A71E;ENSP00000329877:A71E;ENSP00000382557:A71E;ENSP00000385724:A71E;ENSP00000382512:A71E;ENSP00000382542:A71E;ENSP00000382526:A71E;ENSP00000385896:A71E;ENSP00000382504:A71E	.	A	+	2	0	CACNA1C	2094813	0.999000	0.42202	0.027000	0.17364	0.115000	0.19883	6.089000	0.71384	2.627000	0.88993	0.555000	0.69702	GCG		0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2224552	C	A	2224552	3	1	79	1	0	0	0	0	1	0	0	0	2540	768	27	3	218	3	CACNA1C	12	2224552	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	670801	2224552	131627343	110	4074											
CLEC4D	338339	genome.wustl.edu	37	12	8672897	8672898	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	TG	TG	TG	GT	TG	TG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:8672897_8672898TG>GT	ENST00000299665.2	+	5	653_654	c.460_461TG>GT	c.(460-462)TGg>GTg	p.W154V		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	154	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CAAAGGTCAGTGGCGTTGGGTG	0.396																																																0			12																																								8564165	SO:0001583	missense	338339			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		Exception_encountered	12.37:g.8672897_8672898delinsGT	ENSP00000299665:p.Trp154Val		8564164	Q8N5J5	Missense_Mutation	DNP	ENST00000299665.2	37	CCDS8593.1																																																																																				0.396	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		GT	8672898	TG	GT	8672897	3	3	79	1	0	0	0	0	1	0	0	0	3514	1696	59	5	478	5	CLEC4D	12	8672897	Missense_Mutation	DNP	TG	TCGA-13-0760-01A-01W-0372-09	6448345	8672897	125178998	111	4075											
MGP	4256	genome.wustl.edu	37	12	15035113	15035113	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:15035113G>A	ENST00000539261.1	-	4	406	c.272C>T	c.(271-273)gCc>gTc	p.A91V	MGP_ENST00000228938.5_Missense_Mutation_p.A116V|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	91	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)	p.A91V(1)		large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						GCGATTATAGGCAGCATTGTA	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											141	138	139					12																	15035113		2203	4300	6503	14926380	SO:0001583	missense	4256			M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.272C>T	12.37:g.15035113G>A	ENSP00000445907:p.Ala91Val		14926380	A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Missense_Mutation	SNP	ENST00000539261.1	37	CCDS8669.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401200	0.83120	.	.	ENSG00000111341	ENST00000539261;ENST00000228938	D;D	0.99557	-6.16;-6.16	5.13	5.13	0.70059	Gamma-carboxyglutamic acid-rich (GLA) domain (5);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	M	0.83384	2.64	0.53688	D	0.999975	D	0.76494	0.999	D	0.87578	0.998	D	0.97898	1.0301	10	0.87932	D	0	-9.5041	14.2721	0.66157	0.0:0.0:1.0:0.0	.	91	P08493	MGP_HUMAN	V	91;116	ENSP00000445907:A91V;ENSP00000228938:A116V	ENSP00000228938:A116V	A	-	2	0	MGP	14926380	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.201000	0.65163	2.826000	0.97356	0.655000	0.94253	GCC		0.478	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		A	15035113	G	A	15035113	3	1	79	1	0	0	0	0	1	0	0	0	9558	1203	42	2	43	2	MGP	12	15035113	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	6362216	15035113	118816782	112	4076											
LRRK2	120892	genome.wustl.edu	37	12	40745425	40745425	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:40745425G>T	ENST00000298910.7	+	44	6524	c.6466G>T	c.(6466-6468)Gtt>Ttt	p.V2156F		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2156					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.V2156F(1)|p.V2163F(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGAATGCATGGTTGCTACACA	0.408																																																2	Substitution - Missense(2)	ovary(2)	12											89	89	89					12																	40745425		2203	4300	6503	39031692	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6466G>T	12.37:g.40745425G>T	ENSP00000298910:p.Val2156Phe		39031692	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196305	0.38806	.	.	ENSG00000188906	ENST00000298910	T	0.72725	-0.68	6.06	4.24	0.50183	.	0.469985	0.25200	N	0.032398	T	0.70307	0.3209	L	0.53249	1.67	0.47511	D	0.999444	P;P	0.39717	0.684;0.684	B;P	0.44561	0.352;0.453	T	0.73839	-0.3856	10	0.72032	D	0.01	.	12.1366	0.53974	0.1364:0.0:0.8636:0.0	.	2156;2156	Q17RV3;Q5S007	.;LRRK2_HUMAN	F	2156	ENSP00000298910:V2156F	ENSP00000298910:V2156F	V	+	1	0	LRRK2	39031692	1.000000	0.71417	0.998000	0.56505	0.033000	0.12548	4.889000	0.63171	1.579000	0.49836	0.655000	0.94253	GTT		0.408	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		T	40745425	G	T	40745425	3	4	79	1	0	0	0	0	1	0	0	0	9033	1261	44	3	6640	3	LRRK2	12	40745425	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	25710312	40745425	93106470	113	4077											
LIMA1	51474	genome.wustl.edu	37	12	50642510	50642510	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:50642510G>A	ENST00000341247.4	-	2	174	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	LIMA1_ENST00000394943.3_Missense_Mutation_p.R9W	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	9					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.R9W(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GTCCATTGCCGTCTATTAAAT	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											169	150	157					12																	50642510		2203	4300	6503	48928777	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.25C>T	12.37:g.50642510G>A	ENSP00000340184:p.Arg9Trp		48928777	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665585	0.67700	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;T	0.86164	-2.08;-1.34	4.7	4.7	0.59300	.	0.276630	0.33670	N	0.004665	D	0.88731	0.6516	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.54889	0.549;0.763	D	0.89081	0.3476	10	0.66056	D	0.02	-6.9825	11.1139	0.48249	0.0:0.0:0.815:0.185	.	18;9	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	W	9	ENSP00000378400:R9W;ENSP00000340184:R9W	ENSP00000340184:R9W	R	-	1	2	LIMA1	48928777	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.491000	0.53252	2.547000	0.85894	0.655000	0.94253	CGG		0.383	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		A	50642510	G	A	50642510	3	1	79	1	0	0	0	0	1	0	0	0	8796	1144	40	1	2297	1	LIMA1	12	50642510	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	9897085	50642510	83209385	114	4078											
KRT74	121391	genome.wustl.edu	37	12	52962018	52962018	+	Silent	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:52962018G>A	ENST00000305620.2	-	7	1337	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	KRT74_ENST00000549343.1_Silent_p.S444S	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	430	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.S430S(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCAGTTTCAGGCTCATGAGCT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	12											98	89	92					12																	52962018		2203	4300	6503	51248285	SO:0001819	synonymous_variant	121391			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1290C>T	12.37:g.52962018G>A			51248285	B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	CCDS8832.1																																																																																				0.637	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		A	52962018	G	A	52962018	2	1	79	1	0	0	0	0	0	0	0	1	8487	1194	42	2		2	KRT74	12	52962018	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	2319508	52962018	80889877	115	4079											
STAT2	6773	genome.wustl.edu	37	12	56745160	56745160	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:56745160A>G	ENST00000314128.4	-	9	880	c.857T>C	c.(856-858)gTt>gCt	p.V286A	STAT2_ENST00000557235.1_Missense_Mutation_p.V282A|STAT2_ENST00000418572.2_Missense_Mutation_p.V282A|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000556539.1_5'Flank			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	286					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.V286A(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CTGATAGCTAACCAGGCAACT	0.547																																																1	Substitution - Missense(1)	ovary(1)	12											232	204	213					12																	56745160		2203	4300	6503	55031427	SO:0001583	missense	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.857T>C	12.37:g.56745160A>G	ENSP00000315768:p.Val286Ala		55031427	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768676	0.69878	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.60672	0.17;0.17;0.17	4.39	4.39	0.52855	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.308881	0.31577	N	0.007402	T	0.62514	0.2434	M	0.69823	2.125	0.09310	N	0.999998	P;B;P	0.48834	0.916;0.08;0.78	P;B;B	0.48334	0.574;0.096;0.415	T	0.61262	-0.7098	10	0.87932	D	0	-6.4869	11.5275	0.50588	1.0:0.0:0.0:0.0	.	282;282;286	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	A	286;282;282	ENSP00000315768:V286A;ENSP00000450751:V282A;ENSP00000387354:V282A	ENSP00000315768:V286A	V	-	2	0	STAT2	55031427	0.304000	0.24472	0.038000	0.18304	0.078000	0.17371	5.211000	0.65219	1.991000	0.58162	0.377000	0.23210	GTT		0.547	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		G	56745160	A	G	56745160	3	3	79	1	0	0	0	0	1	0	0	0	15267	43	2	4	1762	4	STAT2	12	56745160	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	3783142	56745160	77106735	116	4080											
LRP1	4035	genome.wustl.edu	37	12	57571280	57571280	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:57571280C>T	ENST00000243077.3	+	26	4733	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1423					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R1423C(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGGGCTGGGCGCCGCACCGT	0.667																																																1	Substitution - Missense(1)	ovary(1)	12											35	36	36					12																	57571280		2203	4299	6502	55857547	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4267C>T	12.37:g.57571280C>T	ENSP00000243077:p.Arg1423Cys		55857547	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254792	0.59212	.	.	ENSG00000123384	ENST00000243077	D	0.97665	-4.48	5.14	5.14	0.70334	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.98985	0.9654	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99379	1.0922	10	0.87932	D	0	.	17.5443	0.87857	0.0:1.0:0.0:0.0	.	1423	Q07954	LRP1_HUMAN	C	1423	ENSP00000243077:R1423C	ENSP00000243077:R1423C	R	+	1	0	LRP1	55857547	0.989000	0.36119	0.997000	0.53966	0.918000	0.54935	2.482000	0.45224	2.689000	0.91719	0.462000	0.41574	CGC		0.667	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57571280	C	T	57571280	3	4	79	1	0	0	0	0	1	0	0	0	8951	768	27	1	4369	1	LRP1	12	57571280	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	826120	57571280	76280615	117	4081											
RAB3IP	117177	genome.wustl.edu	37	12	70133640	70133640	+	Missense_Mutation	SNP	A	A	C	rs554097102	byFrequency	TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:70133640A>C	ENST00000550536.1	+	1	471	c.14A>C	c.(13-15)aAg>aCg	p.K5T	RP11-588G21.2_ENST00000501300.1_RNA|RAB3IP_ENST00000325555.9_Intron|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000362025.5_Missense_Mutation_p.K5T|RAB3IP_ENST00000247833.7_Intron|RP11-588G21.2_ENST00000501387.1_RNA|RAB3IP_ENST00000378815.6_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1			RAB3A interacting protein									p.K5T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GGATTAAAAAAGATGAAAGGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											151	140	144					12																	70133640		2202	4300	6502	68419907	SO:0001583	missense	117177				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000550536.1:c.14A>C	12.37:g.70133640A>C	ENSP00000447300:p.Lys5Thr		68419907		Missense_Mutation	SNP	ENST00000550536.1	37	CCDS8993.1	.	.	.	.	.	.	.	.	.	.	A	7.754	0.704038	0.15172	.	.	ENSG00000127328	ENST00000550536;ENST00000362025	T	0.44083	0.93	3.43	-3.75	0.04372	.	1.933090	0.02427	N	0.083212	T	0.20170	0.0485	N	0.03608	-0.345	0.22156	N	0.999324	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26258	-1.0108	10	0.66056	D	0.02	.	5.6056	0.17377	0.2348:0.4791:0.0:0.286	.	5;5	Q96QF0-4;Q96QF0	.;RAB3I_HUMAN	T	5	ENSP00000447300:K5T	ENSP00000355381:K5T	K	+	2	0	RAB3IP	68419907	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.150000	0.16263	-0.761000	0.04670	-0.338000	0.08134	AAG		0.488	RAB3IP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280669.2	NM_022456		C	70133640	A	C	70133640	3	2	79	1	0	0	0	0	1	0	0	0	12941	72	3	5	16	5	RAB3IP	12	70133640	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	12562360	70133640	63718255	118	4082											
SSH1	54434	genome.wustl.edu	37	12	109192923	109192923	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:109192923G>A	ENST00000326495.5	-	13	1295	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	SSH1_ENST00000360239.3_Missense_Mutation_p.A89V|SSH1_ENST00000326470.5_Missense_Mutation_p.A412V|SSH1_ENST00000551165.1_Missense_Mutation_p.A401V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	401	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A401V(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GACTGTGGAGGCCGAGCGACT	0.557																																																1	Substitution - Missense(1)	ovary(1)	12											58	54	55					12																	109192923		2203	4300	6503	107717052	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1202C>T	12.37:g.109192923G>A	ENSP00000315713:p.Ala401Val		107717052	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685092	0.68157	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.64991	1.38;-0.13;-0.13;-0.13	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	L	0.60012	1.86	0.58432	D	0.999999	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.946;1.0;0.982;0.996	T	0.77059	-0.2728	10	0.51188	T	0.08	-20.0765	19.2929	0.94110	0.0:0.0:1.0:0.0	.	412;401;401;89	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	V	89;401;401;412	ENSP00000353374:A89V;ENSP00000315713:A401V;ENSP00000448824:A401V;ENSP00000326107:A412V	ENSP00000326107:A412V	A	-	2	0	SSH1	107717052	1.000000	0.71417	0.206000	0.23566	0.047000	0.14425	8.004000	0.88535	2.636000	0.89361	0.655000	0.94253	GCC		0.557	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		A	109192923	G	A	109192923	3	1	79	1	0	0	0	0	1	0	0	0	15186	1203	42	2	2145	2	SSH1	12	109192923	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	39059283	109192923	24658972	119	4083											
CCDC64	92558	genome.wustl.edu	37	12	120518690	120518690	+	Splice_Site	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:120518690G>C	ENST00000397558.2	+	7	1308		c.e7-1		CCDC64_ENST00000257583.4_Splice_Site|CCDC64_ENST00000446727.2_Splice_Site	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64						Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCCTGTTAGGTGACACTGC	0.517																																																1	Unknown(1)	ovary(1)	12											59	60	60					12																	120518690		2003	4179	6182	119003073	SO:0001630	splice_region_variant	92558			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1309-1G>C	12.37:g.120518690G>C			119003073	A8MUC8|B4DWL0|B5MDJ0|O95000	Splice_Site	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111738	0.56398	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	.	.	.	5.45	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1713	0.65512	0.0719:0.0:0.9281:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC64	119003073	1.000000	0.71417	0.987000	0.45799	0.866000	0.49608	9.338000	0.96553	1.312000	0.45043	-0.136000	0.14681	.		0.517	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311	Intron	C	120518690	G	C	120518690	5	2	79	1	0	0	0	0	0	0	1	0	2835	1014	35	3	1334	3	CCDC64	12	120518690	Splice_Site	SNP	G	TCGA-13-0760-01A-01W-0372-09	11325767	120518690	13333205	120	4084											
CCDC62	84660	genome.wustl.edu	37	12	123290717	123290717	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:123290717G>A	ENST00000253079.6	+	10	2070	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N	CCDC62_ENST00000392441.4_Missense_Mutation_p.D576N|CCDC62_ENST00000392440.2_Missense_Mutation_p.D337N|CCDC62_ENST00000537566.1_Missense_Mutation_p.D337N	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	576					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.D576N(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TGCCATCCAAGATTCCCACTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	12											85	86	86					12																	123290717		2203	4300	6503	121856670	SO:0001583	missense	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1726G>A	12.37:g.123290717G>A	ENSP00000253079:p.Asp576Asn		121856670	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	8.149	0.786962	0.16189	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.31	3.41	0.39046	.	0.469283	0.17987	N	0.155350	T	0.39436	0.1078	N	0.14661	0.345	0.19300	N	0.999973	B;B;B	0.27732	0.003;0.187;0.058	B;B;B	0.28011	0.001;0.085;0.025	T	0.20306	-1.0279	10	0.07644	T	0.81	-4.1605	10.1583	0.42836	0.0:0.7834:0.2166:0.0	.	576;337;576	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	N	576;576;337;337	ENSP00000253079:D576N;ENSP00000376236:D576N;ENSP00000445045:D337N;ENSP00000376235:D337N	ENSP00000253079:D576N	D	+	1	0	CCDC62	121856670	0.211000	0.23529	0.521000	0.27850	0.874000	0.50279	1.736000	0.38187	1.157000	0.42530	-0.344000	0.07964	GAT		0.343	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		A	123290717	G	A	123290717	3	1	79	1	0	0	0	0	1	0	0	0	2833	942	33	2	1764	2	CCDC62	12	123290717	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	2772027	123290717	10561178	121	4085											
DNAH10	196385	genome.wustl.edu	37	12	124289498	124289498	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:124289498C>A	ENST00000409039.3	+	17	2569	c.2544C>A	c.(2542-2544)caC>caA	p.H848Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	848	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H666Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTCGTCCACACCAACACAG	0.517																																																1	Substitution - Missense(1)	ovary(1)	12											96	93	94					12																	124289498		2203	4300	6503	122855451	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2544C>A	12.37:g.124289498C>A	ENSP00000386770:p.His848Gln		122855451	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431871	0.43122	.	.	ENSG00000197653	ENST00000409039	T	0.20332	2.08	5.42	2.51	0.30379	.	0.235114	0.26069	N	0.026537	T	0.16727	0.0402	M	0.65975	2.015	0.31774	N	0.63179	B;B;B	0.26672	0.156;0.097;0.016	B;B;B	0.27500	0.08;0.037;0.017	T	0.09885	-1.0654	10	0.10902	T	0.67	.	3.6225	0.08101	0.0:0.4998:0.217:0.2832	.	848;723;848	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	Q	848	ENSP00000386770:H848Q	ENSP00000386770:H848Q	H	+	3	2	DNAH10	122855451	0.015000	0.18098	1.000000	0.80357	0.953000	0.61014	-0.436000	0.06922	1.247000	0.43917	0.549000	0.68633	CAC		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124289498	C	A	124289498	3	1	79	1	0	0	0	0	1	0	0	0	4598	477	17	3	2610	3	DNAH10	12	124289498	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	998781	124289498	9562397	122	4086											
DNAH10	196385	genome.wustl.edu	37	12	124297818	124297818	+	Silent	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr12:124297818T>A	ENST00000409039.3	+	19	2923	c.2898T>A	c.(2896-2898)ccT>ccA	p.P966P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	966	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P784P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTCTGAACCCTCAGATAATTG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	12											95	96	95					12																	124297818		2203	4300	6503	122863771	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2898T>A	12.37:g.124297818T>A			122863771	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				0.408	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124297818	T	A	124297818	2	1	79	1	0	0	0	0	0	0	0	1	4598	1538	54	5		5	DNAH10	12	124297818	Silent	SNP	T	TCGA-13-0760-01A-01W-0372-09	8320	124297818	9554077	123	4087											
KIAA0564	23078	genome.wustl.edu	37	13	42249411	42249411	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr13:42249411G>C	ENST00000379310.3	-	36	4417	c.4349C>G	c.(4348-4350)tCt>tGt	p.S1450C		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1450						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1450C(1)									TATATAACCAGATGTTTGTGG	0.353																																																1	Substitution - Missense(1)	ovary(1)	13											122	113	116					13																	42249411		1834	4098	5932	41147411	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4349C>G	13.37:g.42249411G>C	ENSP00000368612:p.Ser1450Cys		41147411	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174481	0.57692	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.10960	2.82	5.51	4.65	0.58169	.	0.251205	0.38436	N	0.001690	T	0.14917	0.0360	L	0.48642	1.525	0.80722	D	1	P	0.37955	0.612	B	0.40101	0.319	T	0.01839	-1.1263	10	0.66056	D	0.02	.	16.6366	0.85060	0.0:0.13:0.87:0.0	.	1450	A3KMH1	K0564_HUMAN	C	1354;1450	ENSP00000368612:S1450C	ENSP00000251030:S1354C	S	-	2	0	KIAA0564	41147411	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.138000	0.89613	1.452000	0.47756	0.655000	0.94253	TCT		0.353	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		C	42249411	G	C	42249411	3	2	79	1	0	0	0	0	1	0	0	0	8185	942	33	3	1408	3	KIAA0564	13	42249411	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09		42249411	72920467	124	4088											
PCDH17	27253	genome.wustl.edu	37	13	58208787	58208787	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr13:58208787G>A	ENST00000377918.3	+	1	2133	c.2107G>A	c.(2107-2109)Gac>Aac	p.D703N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	703					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D703N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCACCACTGGGACATGTCGCT	0.607																																					Melanoma(72;952 1291 1619 12849 33676)											1	Substitution - Missense(1)	ovary(1)	13											72	70	71					13																	58208787		2203	4300	6503	57106788	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2107G>A	13.37:g.58208787G>A	ENSP00000367151:p.Asp703Asn		57106788	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548813	0.45383	.	.	ENSG00000118946	ENST00000377918	T	0.54479	0.57	5.46	5.46	0.80206	.	0.088254	0.85682	D	0.000000	T	0.35038	0.0918	N	0.10733	0.035	0.80722	D	1	B;B	0.29988	0.264;0.172	B;B	0.29663	0.105;0.049	T	0.17198	-1.0377	9	.	.	.	.	19.3157	0.94213	0.0:0.0:1.0:0.0	.	703;703	O14917-2;O14917	.;PCD17_HUMAN	N	703	ENSP00000367151:D703N	.	D	+	1	0	PCDH17	57106788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.853000	0.99521	2.551000	0.86045	0.655000	0.94253	GAC		0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		A	58208787	G	A	58208787	3	1	79	1	0	0	0	0	1	0	0	0	11512	1174	41	2	2109	2	PCDH17	13	58208787	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	15959376	58208787	56961091	125	4089											
SLITRK6	84189	genome.wustl.edu	37	13	86370361	86370361	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr13:86370361G>T	ENST00000400286.2	-	2	881	c.283C>A	c.(283-285)Ctt>Att	p.L95I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	95					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.L95I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTAAATCCAAGGTGTATTGAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	13											173	161	164					13																	86370361		1870	4101	5971	85268362	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.283C>A	13.37:g.86370361G>T	ENSP00000383143:p.Leu95Ile		85268362	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877183	0.51801	.	.	ENSG00000184564	ENST00000400286	T	0.68624	-0.34	6.17	6.17	0.99709	.	0.133516	0.51477	D	0.000083	T	0.71779	0.3380	M	0.85710	2.77	0.46678	D	0.999154	P	0.42409	0.779	B	0.36766	0.232	T	0.76602	-0.2899	10	0.56958	D	0.05	-17.224	19.4432	0.94831	0.0:0.0:1.0:0.0	.	95	Q9H5Y7	SLIK6_HUMAN	I	95	ENSP00000383143:L95I	ENSP00000383143:L95I	L	-	1	0	SLITRK6	85268362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.443000	0.59994	2.941000	0.99782	0.655000	0.94253	CTT		0.368	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86370361	G	T	86370361	3	4	79	1	0	0	0	0	1	0	0	0	14750	1000	35	3	2246	3	SLITRK6	13	86370361	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	28161574	86370361	28799517	126	4090											
CHD8	57680	genome.wustl.edu	37	14	21873400	21873400	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr14:21873400C>T	ENST00000557364.1	-	16	3538	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R813H|CHD8_ENST00000399982.2_Missense_Mutation_p.R1092H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1092					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.R1092H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCAGCACTTGCGCAACTCCAT	0.428																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	14											83	78	80					14																	21873400		1936	4143	6079	20943240	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3275G>A	14.37:g.21873400C>T	ENSP00000451601:p.Arg1092His		20943240	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987929	0.93106	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.80480	-1.38;-1.38;-1.38	4.78	4.78	0.61160	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94963	0.8110	10	0.87932	D	0	-12.3316	17.0978	0.86641	0.0:1.0:0.0:0.0	.	1092;813	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	H	813;1092;812;1092	ENSP00000406288:R813H;ENSP00000382863:R1092H;ENSP00000451601:R1092H	ENSP00000262707:R812H	R	-	2	0	CHD8	20943240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.646000	0.89796	0.561000	0.74099	CGC		0.428	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		T	21873400	C	T	21873400	3	4	79	1	0	0	0	0	1	0	0	0	3331	768	27	1	4562	1	CHD8	14	21873400	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09		21873400	85476140	127	4091											
SIPA1L1	26037	genome.wustl.edu	37	14	72085486	72085486	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr14:72085486A>G	ENST00000555818.1	+	3	1859	c.1511A>G	c.(1510-1512)tAt>tGt	p.Y504C	SIPA1L1_ENST00000537413.1_5'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Y504C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Y504C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	504					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.Y504C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CACTGGAACTATTTTGGGGCT	0.368																																																1	Substitution - Missense(1)	ovary(1)	14											98	98	98					14																	72085486		2203	4300	6503	71155239	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1511A>G	14.37:g.72085486A>G	ENSP00000450832:p.Tyr504Cys		71155239	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502747	0.85176	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000555066	D;D;D;D	0.94613	-1.9;-1.9;-1.9;-3.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.999;0.959;0.999	D;P;D	0.80764	0.987;0.816;0.994	D	0.97976	1.0346	10	0.87932	D	0	-14.6724	15.6441	0.77033	1.0:0.0:0.0:0.0	.	504;504;504	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	C	504;504;504;5	ENSP00000370630:Y504C;ENSP00000450832:Y504C;ENSP00000351352:Y504C;ENSP00000452450:Y5C	ENSP00000351352:Y504C	Y	+	2	0	SIPA1L1	71155239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.104000	0.64026	0.533000	0.62120	TAT		0.368	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		G	72085486	A	G	72085486	3	3	79	1	0	0	0	0	1	0	0	0	14332	449	16	4	1517	4	SIPA1L1	14	72085486	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	50212086	72085486	35264054	128	4092											
C14orf43	91748	genome.wustl.edu	37	14	74205387	74205387	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr14:74205387C>G	ENST00000286523.5	-	2	2107	c.1325G>C	c.(1324-1326)tGt>tCt	p.C442S	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.C442S|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.C442S(1)									CACCTGCCCACAGTCCCCTGT	0.667																																																1	Substitution - Missense(1)	ovary(1)	14											44	42	42					14																	74205387		2203	4300	6503	73275140	SO:0001583	missense	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1325G>C	14.37:g.74205387C>G	ENSP00000286523:p.Cys442Ser		73275140	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	3.580	-0.085836	0.07097	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	4.69	2.68	0.31781	.	0.257513	0.34291	N	0.004097	T	0.05364	0.0142	N	0.14661	0.345	0.27379	N	0.95548	B;B	0.33379	0.151;0.41	B;B	0.25614	0.039;0.062	T	0.33828	-0.9853	10	0.08599	T	0.76	-7.128	8.4137	0.32659	0.2411:0.6386:0.1202:0.0	.	442;442	A0PJD3;Q6PJG2	.;CN043_HUMAN	S	442	ENSP00000377634:C442S;ENSP00000286523:C442S;ENSP00000407767:C442S;ENSP00000402380:C442S	ENSP00000286523:C442S	C	-	2	0	C14orf43	73275140	0.335000	0.24748	1.000000	0.80357	0.961000	0.63080	1.269000	0.33074	2.163000	0.67991	0.491000	0.48974	TGT		0.667	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		G	74205387	C	G	74205387	3	3	79	1	0	0	0	0	1	0	0	0	1774	478	17	3	1856	3	C14orf43	14	74205387	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	2119901	74205387	33144153	129	4093											
TTLL5	23093	genome.wustl.edu	37	14	76249663	76249663	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr14:76249663C>T	ENST00000298832.9	+	26	2981	c.2776C>T	c.(2776-2778)Ccc>Tcc	p.P926S	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.P940S|TTLL5_ENST00000556893.1_Missense_Mutation_p.P477S|TTLL5_ENST00000554510.1_Missense_Mutation_p.P435S	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	926					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.P926S(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCAGCTATCCCCAGCATGCC	0.507																																																1	Substitution - Missense(1)	ovary(1)	14											144	127	133					14																	76249663		2203	4300	6503	75319416	SO:0001583	missense	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2776C>T	14.37:g.76249663C>T	ENSP00000298832:p.Pro926Ser		75319416	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599580	0.28534	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.21543	4.1;4.19;2.0;2.0	5.72	3.64	0.41730	.	1.175900	0.06353	U	0.710209	T	0.12944	0.0314	N	0.14661	0.345	0.24298	N	0.995135	B;B;B	0.21147	0.006;0.052;0.017	B;B;B	0.16289	0.007;0.015;0.007	T	0.06481	-1.0824	10	0.30854	T	0.27	.	7.2175	0.25967	0.0:0.6998:0.163:0.1372	.	940;477;926	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	S	613;940;926;477;477;435	ENSP00000450713:P940S;ENSP00000298832:P926S;ENSP00000452524:P477S;ENSP00000451946:P435S	ENSP00000298832:P926S	P	+	1	0	TTLL5	75319416	0.253000	0.23982	0.992000	0.48379	0.408000	0.30992	0.357000	0.20199	2.704000	0.92352	0.557000	0.71058	CCC		0.507	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		T	76249663	C	T	76249663	3	4	79	1	0	0	0	0	1	0	0	0	16730	623	22	2	2874	2	TTLL5	14	76249663	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	2044276	76249663	31099877	130	4094											
C14orf102	55051	genome.wustl.edu	37	14	90784449	90784449	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr14:90784449A>C	ENST00000354366.3	-	2	305	c.73T>G	c.(73-75)Tgg>Ggg	p.W25G	NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_Intron	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	25								p.W25G(1)									TTGCTCAGCCAGTCTAACTCT	0.438																																																1	Substitution - Missense(1)	ovary(1)	14											127	120	123					14																	90784449		2203	4300	6503	89854202	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.73T>G	14.37:g.90784449A>C	ENSP00000346335:p.Trp25Gly		89854202	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646561	0.67358	.	.	ENSG00000119720	ENST00000354366	T	0.51817	0.69	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000002	T	0.66867	0.2833	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.70938	-0.4736	10	0.87932	D	0	-13.985	13.472	0.61287	1.0:0.0:0.0:0.0	.	25	Q9H7Z3	CN102_HUMAN	G	25	ENSP00000346335:W25G	ENSP00000346335:W25G	W	-	1	0	C14orf102	89854202	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.120000	0.71596	2.011000	0.59026	0.455000	0.32223	TGG		0.438	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		C	90784449	A	C	90784449	3	2	79	1	0	0	0	0	1	0	0	0	1735	188	7	5	3473	5	C14orf102	14	90784449	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	14534786	90784449	16565091	131	4095											
SERPINA10	51156	genome.wustl.edu	37	14	94750327	94750327	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr14:94750327C>A	ENST00000393096.1	-	5	1775	c.1310G>T	c.(1309-1311)aGg>aTg	p.R437M	SERPINA10_ENST00000261994.4_Missense_Mutation_p.R437M|SERPINA10_ENST00000554723.1_Missense_Mutation_p.R477M|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R437M	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	437					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R437M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ATTCACCACCCTGCCCAGAAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	14											100	96	98					14																	94750327		2203	4300	6503	93820080	SO:0001583	missense	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1310G>T	14.37:g.94750327C>A	ENSP00000376809:p.Arg437Met		93820080	A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133298	0.56828	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.57	5.57	0.84162	Serpin domain (3);	0.000000	0.64402	D	0.000009	D	0.95207	0.8446	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95774	0.8811	10	0.87932	D	0	.	19.5537	0.95331	0.0:1.0:0.0:0.0	.	437	Q9UK55	ZPI_HUMAN	M	477;437;437;437	ENSP00000450896:R477M;ENSP00000376809:R437M;ENSP00000261994:R437M;ENSP00000450971:R437M	ENSP00000261994:R437M	R	-	2	0	SERPINA10	93820080	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	4.311000	0.59147	2.614000	0.88457	0.557000	0.71058	AGG		0.453	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		A	94750327	C	A	94750327	3	1	79	1	0	0	0	0	1	0	0	0	14090	681	24	3	28	3	SERPINA10	14	94750327	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	3965878	94750327	12599213	132	4096											
GPR132	29933	genome.wustl.edu	37	14	105518039	105518039	+	Silent	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr14:105518039C>T	ENST00000329797.3	-	4	1346	c.435G>A	c.(433-435)gtG>gtA	p.V145V	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.V145V|GPR132_ENST00000392585.2_Silent_p.V136V	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	145					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V145V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CCAGCGCGTACACCACGGCCA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	14											92	83	86					14																	105518039		2203	4300	6503	104589084	SO:0001819	synonymous_variant	29933			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.435G>A	14.37:g.105518039C>T			104589084	A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	CCDS9997.1																																																																																				0.627	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		T	105518039	C	T	105518039	2	4	79	1	0	0	0	0	0	0	0	1	6642	465	17	2		2	GPR132	14	105518039	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	10767712	105518039	1831501	133	4097											
RYR3	6263	genome.wustl.edu	37	15	34049746	34049746	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr15:34049746C>A	ENST00000389232.4	+	60	8724	c.8654C>A	c.(8653-8655)cCc>cAc	p.P2885H	RYR3_ENST00000415757.3_Missense_Mutation_p.P2885H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2885					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.P2885H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCTGAAGCCCCTTAGCAGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	15											85	78	80					15																	34049746		1928	4146	6074	31837038	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8654C>A	15.37:g.34049746C>A	ENSP00000373884:p.Pro2885His		31837038	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973933	0.53720	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96554	-4.05;-4.05	5.41	5.41	0.78517	.	0.134929	0.49305	D	0.000148	D	0.94581	0.8254	L	0.43152	1.355	0.28357	N	0.920647	P;P	0.45715	0.643;0.865	B;P	0.45712	0.136;0.491	D	0.91585	0.5282	10	0.66056	D	0.02	.	12.6636	0.56828	0.0:0.9255:0.0:0.0745	.	2885;2885	Q15413-2;Q15413	.;RYR3_HUMAN	H	2885	ENSP00000373884:P2885H;ENSP00000399610:P2885H	ENSP00000354735:P2885H	P	+	2	0	RYR3	31837038	0.967000	0.33354	1.000000	0.80357	0.985000	0.73830	2.547000	0.45786	2.826000	0.97356	0.655000	0.94253	CCC		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34049746	C	A	34049746	3	1	79	1	0	0	0	0	1	0	0	0	13773	623	22	3	8892	3	RYR3	15	34049746	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09		34049746	68481646	134	4098											
PLCB2	5330	genome.wustl.edu	37	15	40595508	40595508	+	Missense_Mutation	SNP	T	T	G	rs537249891		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr15:40595508T>G	ENST00000260402.3	-	3	461	c.212A>C	c.(211-213)aAg>aCg	p.K71T	PLCB2_ENST00000543785.2_Missense_Mutation_p.K71T|PLCB2_ENST00000456256.2_Missense_Mutation_p.K71T|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.K71T	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	71					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.K71T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTTGGCAAACTTCCCAAAGCG	0.597																																																1	Substitution - Missense(1)	ovary(1)	15											98	96	97					15																	40595508		1989	4166	6155	38382800	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.212A>C	15.37:g.40595508T>G	ENSP00000260402:p.Lys71Thr		38382800	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980948	0.53827	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.49139	0.79;0.79;0.79	4.53	4.53	0.55603	.	0.057552	0.64402	D	0.000003	T	0.58595	0.2133	M	0.79693	2.465	0.46654	D	0.999147	B;B;B;B	0.31968	0.349;0.256;0.321;0.003	B;P;B;B	0.44772	0.224;0.46;0.146;0.011	T	0.63910	-0.6530	10	0.66056	D	0.02	.	9.2522	0.37562	0.0:0.0936:0.0:0.9064	.	71;71;71;71	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	T	71	ENSP00000260402:K71T;ENSP00000411991:K71T;ENSP00000444652:K71T	ENSP00000260402:K71T	K	-	2	0	PLCB2	38382800	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.256000	0.51492	2.021000	0.59480	0.533000	0.62120	AAG		0.597	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			G	40595508	T	G	40595508	3	3	79	1	0	0	0	0	1	0	0	0	12028	1609	56	5	3465	5	PLCB2	15	40595508	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	6545762	40595508	61935884	135	4099											
FAM81A	145773	genome.wustl.edu	37	15	59752196	59752196	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr15:59752196C>G	ENST00000288228.5	+	3	272	c.85C>G	c.(85-87)Ctc>Gtc	p.L29V		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	29								p.L26V(1)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ATCTGTAAGCCTCGTGGAGCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	15											34	37	36					15																	59752196		1972	4176	6148	57539488	SO:0001583	missense	145773				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.85C>G	15.37:g.59752196C>G	ENSP00000288228:p.Leu29Val		57539488		Missense_Mutation	SNP	ENST00000288228.5	37	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486793	0.26686	.	.	ENSG00000157470	ENST00000288228	T	0.29655	1.56	5.57	4.66	0.58398	.	0.000000	0.53938	D	0.000051	T	0.45617	0.1351	L	0.44542	1.39	0.36831	D	0.886887	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.986	T	0.52465	-0.8572	10	0.51188	T	0.08	-12.8752	12.0151	0.53309	0.0:0.9198:0.0:0.0802	.	26;29	B4DRE4;Q8TBF8	.;FA81A_HUMAN	V	29	ENSP00000288228:L29V	ENSP00000288228:L29V	L	+	1	0	FAM81A	57539488	0.997000	0.39634	0.767000	0.31495	0.220000	0.24768	2.518000	0.45537	1.353000	0.45828	-0.291000	0.09656	CTC		0.532	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		G	59752196	C	G	59752196	3	3	79	1	0	0	0	0	1	0	0	0	5628	681	24	3	91	3	FAM81A	15	59752196	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	19156688	59752196	42779196	136	4100											
HERC1	8925	genome.wustl.edu	37	15	63940273	63940273	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr15:63940273G>A	ENST00000443617.2	-	55	10960	c.10873C>T	c.(10873-10875)Cat>Tat	p.H3625Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3625					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H3625Y(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTTACCTTATGTGCATCAATT	0.343																																																1	Substitution - Missense(1)	ovary(1)	15											83	69	74					15																	63940273		1848	4072	5920	61727326	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10873C>T	15.37:g.63940273G>A	ENSP00000390158:p.His3625Tyr		61727326	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226856	0.58668	.	.	ENSG00000103657	ENST00000443617	T	0.81415	-1.49	5.67	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066712	0.64402	U	0.000019	D	0.86070	0.5845	M	0.93283	3.4	0.58432	D	0.999996	B	0.06786	0.001	B	0.10450	0.005	D	0.84989	0.0893	10	0.66056	D	0.02	.	16.5168	0.84303	0.0:0.1311:0.8689:0.0	.	3625	Q15751	HERC1_HUMAN	Y	3625	ENSP00000390158:H3625Y	ENSP00000390158:H3625Y	H	-	1	0	HERC1	61727326	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	7.561000	0.82288	1.370000	0.46153	0.313000	0.20887	CAT		0.343	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	63940273	G	A	63940273	3	1	79	1	0	0	0	0	1	0	0	0	7057	1377	48	2	3808	2	HERC1	15	63940273	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	4188077	63940273	38591119	137	4101											
RHBDF1	64285	genome.wustl.edu	37	16	109279	109279	+	Silent	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr16:109279G>A	ENST00000262316.6	-	16	2104	c.1962C>T	c.(1960-1962)taC>taT	p.Y654Y		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	654					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.Y654Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCCACAGGCGGTAGAACTGGT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	16											66	67	66					16																	109279		2203	4300	6503	49279	SO:0001819	synonymous_variant	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1962C>T	16.37:g.109279G>A			49279	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	CCDS32344.1																																																																																				0.622	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		A	109279	G	A	109279	2	1	79	1	0	0	0	0	0	0	0	1	13322	1256	44	2		2	RHBDF1	16	109279	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09		109279	90245474	138	4102											
MLST8	64223	genome.wustl.edu	37	16	2258832	2258832	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr16:2258832A>G	ENST00000569417.1	+	9	1289	c.935A>G	c.(934-936)cAg>cGg	p.Q312R	MLST8_ENST00000382450.4_Missense_Mutation_p.Q311R|MLST8_ENST00000301724.10_3'UTR|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000564088.1_Missense_Mutation_p.Q312R|MLST8_ENST00000565250.1_Missense_Mutation_p.Q312R|MLST8_ENST00000397124.1_Missense_Mutation_p.Q312R	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	312					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.Q312R(1)		large_intestine(3)|lung(2)|skin(1)	6						GGCGGCCACCAGAAGGCTGTT	0.617																																																1	Substitution - Missense(1)	ovary(1)	16											102	122	115					16																	2258832		2088	4219	6307	2198833	SO:0001583	missense	64223				CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.935A>G	16.37:g.2258832A>G	ENSP00000456405:p.Gln312Arg		2198833	B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509907	0.85282	.	.	ENSG00000167965	ENST00000382450;ENST00000397124	T	0.39997	1.05	4.98	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.43897	0.1268	L	0.31120	0.905	0.80722	D	1	D;P	0.67145	0.996;0.788	P;B	0.56398	0.797;0.242	T	0.19877	-1.0292	9	0.22706	T	0.39	.	13.5077	0.61493	1.0:0.0:0.0:0.0	.	246;312	Q9BVC4-3;Q9BVC4	.;LST8_HUMAN	R	312	ENSP00000380313:Q312R	ENSP00000371888:Q312R	Q	+	2	0	MLST8	2198833	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.224000	0.72265	1.873000	0.54277	0.379000	0.24179	CAG		0.617	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		G	2258832	A	G	2258832	3	3	79	1	0	0	0	0	1	0	0	0	9634	188	7	4	965	4	MLST8	16	2258832	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	2149553	2258832	88095921	139	4103											
CLUAP1	23059	genome.wustl.edu	37	16	3573215	3573215	+	Silent	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr16:3573215C>T	ENST00000576634.1	+	8	915	c.771C>T	c.(769-771)gaC>gaT	p.D257D	CLUAP1_ENST00000571025.1_Silent_p.D257D|CLUAP1_ENST00000417763.2_Silent_p.D91D|CLUAP1_ENST00000341633.5_Silent_p.D257D|CLUAP1_ENST00000572600.1_Silent_p.D91D|CLUAP1_ENST00000445795.2_Silent_p.D16D	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	257					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.D257D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AGCAGTATGACACTTATCTGG	0.373																																																1	Substitution - coding silent(1)	ovary(1)	16											118	111	113					16																	3573215		2197	4300	6497	3513216	SO:0001819	synonymous_variant	23059			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.771C>T	16.37:g.3573215C>T			3513216	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	CCDS32381.1																																																																																				0.373	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		T	3573215	C	T	3573215	2	4	79	1	0	0	0	0	0	0	0	1	3569	477	17	2		2	CLUAP1	16	3573215	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	1314383	3573215	86781538	140	4104											
ZNF785	146540	genome.wustl.edu	37	16	30594263	30594263	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr16:30594263G>A	ENST00000395216.2	-	3	995	c.836C>T	c.(835-837)aCg>aTg	p.T279M	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.T264M|AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T279M(1)		endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CTTCTCGCCCGTGTGCTTGCG	0.637																																																1	Substitution - Missense(1)	ovary(1)	16											54	50	51					16																	30594263		2197	4300	6497	30501764	SO:0001583	missense	146540			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.836C>T	16.37:g.30594263G>A	ENSP00000378642:p.Thr279Met		30501764	O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.653161	0.88056	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.26373	1.74;1.74	4.25	1.1	0.20463	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46151	0.1378	M	0.80616	2.505	0.25220	N	0.989913	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.967;0.994;0.945	T	0.25882	-1.0119	9	0.87932	D	0	.	4.2917	0.10881	0.0902:0.1553:0.5942:0.1603	.	244;279;264	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	M	264;244;279	ENSP00000420340:T264M;ENSP00000378642:T279M	ENSP00000378642:T279M	T	-	2	0	ZNF785	30501764	1.000000	0.71417	0.141000	0.22245	0.803000	0.45373	3.212000	0.51145	0.099000	0.17552	-0.196000	0.12772	ACG		0.637	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		A	30594263	G	A	30594263	3	1	79	1	0	0	0	0	1	0	0	0	18157	1145	40	1	385	1	ZNF785	16	30594263	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	27021048	30594263	59760490	141	4105											
CNOT1	23019	genome.wustl.edu	37	16	58590888	58590888	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr16:58590888A>G	ENST00000317147.5	-	19	2674	c.2342T>C	c.(2341-2343)cTt>cCt	p.L781P	CNOT1_ENST00000569732.1_5'UTR|SNORA50_ENST00000384225.2_RNA|CNOT1_ENST00000569240.1_Missense_Mutation_p.L781P|CNOT1_ENST00000441024.2_Missense_Mutation_p.L781P	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	781					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.L781P(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCCTGTGCCAAGACCACCTAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	16											57	52	54					16																	58590888		2198	4300	6498	57148389	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2342T>C	16.37:g.58590888A>G	ENSP00000320949:p.Leu781Pro		57148389	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412799	0.42817	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.48522	0.85;0.81	5.48	5.48	0.80851	.	0.182425	0.48767	D	0.000164	T	0.41581	0.1165	N	0.12182	0.205	0.80722	D	1	P;B;B	0.51537	0.946;0.003;0.002	P;B;B	0.50896	0.653;0.002;0.002	T	0.42932	-0.9422	10	0.45353	T	0.12	-24.7495	15.5775	0.76404	1.0:0.0:0.0:0.0	.	781;781;781	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	P	781;210;781;781	ENSP00000320949:L781P;ENSP00000413113:L781P	ENSP00000320949:L781P	L	-	2	0	CNOT1	57148389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.438000	0.90305	2.076000	0.62316	0.533000	0.62120	CTT		0.433	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		G	58590888	A	G	58590888	3	3	79	1	0	0	0	0	1	0	0	0	3617	72	3	4	5134	4	CNOT1	16	58590888	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	27996625	58590888	31763865	142	4106											
CMTM2	146225	genome.wustl.edu	37	16	66620925	66620925	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr16:66620925G>C	ENST00000268595.2	+	3	621	c.470G>C	c.(469-471)tGt>tCt	p.C157S	CMTM2_ENST00000379486.2_Missense_Mutation_p.C104S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	157	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.C157S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CTGATTGCTTGTGCGTTCCTT	0.537																																																1	Substitution - Missense(1)	ovary(1)	16											236	179	199					16																	66620925		2201	4300	6501	65178426	SO:0001583	missense	146225			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.470G>C	16.37:g.66620925G>C	ENSP00000268595:p.Cys157Ser		65178426	Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	G	2.053	-0.417349	0.04766	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.44881	0.91;1.53	4.05	-8.1	0.01086	Marvel (1);	1.835410	0.02593	N	0.100128	T	0.30324	0.0761	L	0.29908	0.895	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.19666	0.026;0.015	T	0.14420	-1.0473	10	0.30854	T	0.27	24.9965	12.3652	0.55224	0.0:0.1745:0.7098:0.1157	.	104;157	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	S	104;157	ENSP00000368800:C104S;ENSP00000268595:C157S	ENSP00000268595:C157S	C	+	2	0	CMTM2	65178426	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.709000	0.01890	-2.223000	0.00726	-0.410000	0.06199	TGT		0.537	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			C	66620925	G	C	66620925	3	2	79	1	0	0	0	0	1	0	0	0	3583	1377	48	3	480	3	CMTM2	16	66620925	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	8030037	66620925	23733828	143	4107											
LRRC50	123872	genome.wustl.edu	37	16	84203520	84203520	+	Silent	SNP	G	G	A	rs199746574		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr16:84203520G>A	ENST00000378553.5	+	8	1210	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Silent_p.K362K	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	362					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.K362K(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGGAAGGCAAGGAGGAGCCTC	0.532													G|||	1	0.000199681	0	0	5008	,	,		19590	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	16											71	74	73					16																	84203520		2200	4300	6500	82761021	SO:0001819	synonymous_variant	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1086G>A	16.37:g.84203520G>A			82761021	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	CCDS10943.2																																																																																				0.532	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		A	84203520	G	A	84203520	2	1	79	1	0	0	0	0	0	0	0	1	9009	991	35	2		2	LRRC50	16	84203520	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	17582595	84203520	6151233	144	4108											
SPG7	6687	genome.wustl.edu	37	16	89603290	89603290	+	Intron	SNP	C	C	T	rs371077773		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr16:89603290C>T	ENST00000268704.2	+	9	1339				SPG7_ENST00000341316.2_Missense_Mutation_p.S481L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)						anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.S481L(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGGGTCATTCGCTCTGCTGG	0.552																																																1	Substitution - Missense(1)	lung(1)	16						C	,LEU/SER	1,4395	2.1+/-5.4	0,1,2197	196	172	180		,1442	1.2	0	16		180	0,8600		0,0,4300	no	intron,missense	SPG7	NM_003119.2,NM_199367.1	,145	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,	,481/490	89603290	1,12995	2198	4300	6498	88130791	SO:0001627	intron_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1324+4246C>T	16.37:g.89603290C>T			88130791	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	4.518	0.096201	0.08681	2.27E-4	0.0	ENSG00000197912	ENST00000341316	D	0.93659	-3.26	1.18	1.18	0.20946	.	.	.	.	.	D	0.87362	0.6158	.	.	.	0.09310	N	1	B	0.22683	0.073	B	0.08055	0.003	T	0.79683	-0.1701	8	0.87932	D	0	.	5.7574	0.18180	0.0:1.0:0.0:0.0	.	481	Q9UQ90-2	.	L	481	ENSP00000341157:S481L	ENSP00000341157:S481L	S	+	2	0	SPG7	88130791	0.008000	0.16893	0.003000	0.11579	0.001000	0.01503	0.557000	0.23454	0.993000	0.38866	0.462000	0.41574	TCG		0.552	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		T	89603290	C	T	89603290	1	4	79	0	1	0	0	0	0	0	0	0	15046	893	31	1		1	SPG7	16	89603290	Intron	SNP	C	TCGA-13-0760-01A-01W-0372-09	5399770	89603290	751463	145	4109											
ZZEF1	23140	genome.wustl.edu	37	17	3920845	3920845	+	Silent	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr17:3920845G>C	ENST00000381638.2	-	48	7945	c.7821C>G	c.(7819-7821)ctC>ctG	p.L2607L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2607							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L2607L(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCACTCGGAAGAGGTAGTCCC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	17											74	63	67					17																	3920845		2203	4300	6503	3867594	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7821C>G	17.37:g.3920845G>C			3867594	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																				0.627	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		C	3920845	G	C	3920845	2	2	79	1	0	0	0	0	0	0	0	1	18255	929	33	3		3	ZZEF1	17	3920845	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09		3920845	77274365	146	4110											
PSMB6	5694	genome.wustl.edu	37	17	4700982	4700982	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr17:4700982A>G	ENST00000270586.3	+	4	359	c.308A>G	c.(307-309)gAa>gGa	p.E103G		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	103					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)	p.E103G(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						TCTAGCATTGAACTGAATGAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	17											115	115	115					17																	4700982		2203	4300	6503	4647940	SO:0001583	missense	5694			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.308A>G	17.37:g.4700982A>G	ENSP00000270586:p.Glu103Gly		4647940	Q96J55	Missense_Mutation	SNP	ENST00000270586.3	37	CCDS11056.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804143	0.70682	.	.	ENSG00000142507	ENST00000270586	T	0.23348	1.91	5.99	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	M	0.91459	3.21	0.46478	D	0.999064	D	0.65815	0.995	D	0.64237	0.923	T	0.61931	-0.6961	10	0.66056	D	0.02	-22.1123	10.2756	0.43507	0.8339:0.1661:0.0:0.0	.	103	P28072	PSB6_HUMAN	G	103	ENSP00000270586:E103G	ENSP00000270586:E103G	E	+	2	0	PSMB6	4647940	1.000000	0.71417	0.982000	0.44146	0.964000	0.63967	8.417000	0.90247	1.068000	0.40764	-0.313000	0.08912	GAA		0.512	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		G	4700982	A	G	4700982	3	3	79	1	0	0	0	0	1	0	0	0	12684	246	9	4	322	4	PSMB6	17	4700982	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	780137	4700982	76494228	147	4111											
TP53	7157	genome.wustl.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr17:7577144A>G	ENST00000269305.4	-	8	983	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_ENST00000445888.2_Missense_Mutation_p.L265P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.L265P|TP53_ENST00000359597.4_Missense_Mutation_p.L265P|TP53_ENST00000420246.2_Missense_Mutation_p.L265P|TP53_ENST00000413465.2_Intron	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	265	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)	GTTCCGTCCCAGTAGATTACC	0.522		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"	42	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(3)|Deletion - Frameshift(3)	large_intestine(6)|lung(5)|oesophagus(5)|breast(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|small_intestine(1)|skin(1)|eye(1)	17	GRCh37	CD004355|CM971505	TP53	D|M							46	41	43					17																	7577144		2203	4300	6503	7517869	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.794T>C	17.37:g.7577144A>G	ENSP00000269305:p.Leu265Pro		7517869	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	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724991	0.68959	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42;-7.42;-7.42	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99849	0.9930	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.96469	0.9347	10	0.87932	D	0	-15.8832	12.9367	0.58319	1.0:0.0:0.0:0.0	.	265;265;265;265	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	265;265;265;265;265;254;133	ENSP00000352610:L265P;ENSP00000269305:L265P;ENSP00000398846:L265P;ENSP00000391127:L265P;ENSP00000391478:L265P;ENSP00000425104:L133P	ENSP00000269305:L265P	L	-	2	0	TP53	7517869	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	9.060000	0.93907	2.154000	0.67381	0.379000	0.24179	CTG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577144	A	G	7577144	3	3	79	1	0	0	0	0	1	0	0	0	16381	188	7	4	492	4	TP53	17	7577144	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	2876162	7577144	73618066	148	4112											
NLK	51701	genome.wustl.edu	37	17	26488244	26488244	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr17:26488244C>A	ENST00000407008.3	+	4	1421	c.703C>A	c.(703-705)Cca>Aca	p.P235T		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.P223T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTCTCCTCAACCACTCAGCTC	0.368																																																1	Substitution - Missense(1)	ovary(1)	17											119	113	115					17																	26488244		2203	4300	6503	23512371	SO:0001583	missense	51701			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.703C>A	17.37:g.26488244C>A	ENSP00000384625:p.Pro235Thr		23512371	B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	37	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993892	0.54041	.	.	ENSG00000087095	ENST00000407008	T	0.64991	-0.13	6.17	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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	0.47525	0.1450	N	0.11154	0.105	0.80722	D	1	B	0.30526	0.283	B	0.34242	0.178	T	0.48603	-0.9021	10	0.41790	T	0.15	-0.9486	16.0876	0.81068	0.1348:0.8652:0.0:0.0	.	235	Q9UBE8	NLK_HUMAN	T	235	ENSP00000384625:P235T	ENSP00000384625:P235T	P	+	1	0	NLK	23512371	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	1.606000	0.50161	-0.182000	0.12963	CCA		0.368	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		A	26488244	C	A	26488244	3	1	79	1	0	0	0	0	1	0	0	0	10466	507	18	3	717	3	NLK	17	26488244	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	18911100	26488244	54706966	149	4113											
HEXDC	284004	genome.wustl.edu	37	17	80391633	80391633	+	Missense_Mutation	SNP	G	G	C	rs566441417		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr17:80391633G>C	ENST00000327949.9	+	4	393	c.382G>C	c.(382-384)Gcc>Ccc	p.A128P	HEXDC_ENST00000577944.1_Missense_Mutation_p.A128P|HEXDC_ENST00000337014.6_Missense_Mutation_p.A128P			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	128					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)	p.A128P(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGGTGGGCGCCATGATTGA	0.657																																																1	Substitution - Missense(1)	ovary(1)	17											37	41	40					17																	80391633		1938	4130	6068	77984922	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.382G>C	17.37:g.80391633G>C	ENSP00000332634:p.Ala128Pro		77984922	B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37		.	.	.	.	.	.	.	.	.	.	G	14.22	2.469210	0.43839	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.90385	-2.66;-2.66	5.3	3.1	0.35709	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.229494	0.44285	D	0.000478	D	0.85852	0.5793	L	0.50333	1.59	0.42438	D	0.992703	B;B	0.23442	0.014;0.085	B;B	0.23150	0.044;0.029	T	0.81560	-0.0877	10	0.33940	T	0.23	-22.4983	9.7463	0.40448	0.223:0.0:0.777:0.0	.	128;128	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	P	128	ENSP00000337854:A128P;ENSP00000332634:A128P	ENSP00000332634:A128P	A	+	1	0	HEXDC	77984922	0.964000	0.33143	0.973000	0.42090	0.966000	0.64601	1.761000	0.38440	1.225000	0.43566	0.563000	0.77884	GCC		0.657	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		C	80391633	G	C	80391633	3	2	79	1	0	0	0	0	1	0	0	0	7075	1087	38	3	396	3	HEXDC	17	80391633	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	53903389	80391633	803577	150	4114											
THOP1	7064	genome.wustl.edu	37	19	2799744	2799744	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:2799744C>A	ENST00000307741.6	+	5	747	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	THOP1_ENST00000586677.1_Missense_Mutation_p.L61M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	182					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.L182M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACAAGAACCTGAACGAGGA	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											158	114	129					19																	2799744		2203	4300	6503	2750744	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.544C>A	19.37:g.2799744C>A	ENSP00000304467:p.Leu182Met		2750744	B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329720	0.60743	.	.	ENSG00000172009	ENST00000307741	T	0.10960	2.82	4.62	2.47	0.30058	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.077013	0.53938	D	0.000056	T	0.27349	0.0671	M	0.79011	2.435	0.80722	D	1	D;D	0.67145	0.996;0.979	D;D	0.67382	0.951;0.919	T	0.00860	-1.1537	10	0.72032	D	0.01	-29.1118	7.251	0.26150	0.0:0.7184:0.0:0.2815	.	61;182	B4DU96;P52888	.;THOP1_HUMAN	M	182	ENSP00000304467:L182M	ENSP00000304467:L182M	L	+	1	2	THOP1	2750744	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.286000	0.43496	0.385000	0.24970	0.555000	0.69702	CTG		0.612	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			A	2799744	C	A	2799744	3	1	79	1	0	0	0	0	1	0	0	0	15871	680	24	3	562	3	THOP1	19	2799744	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09		2799744	56329239	151	4115											
FBN3	84467	genome.wustl.edu	37	19	8201405	8201405	+	Silent	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:8201405G>A	ENST00000600128.1	-	11	1626	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	FBN3_ENST00000601739.1_Silent_p.T404T|FBN3_ENST00000270509.2_Silent_p.T404T			Q75N90	FBN3_HUMAN	fibrillin 3	404						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T404T(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCTGGTTCAGGGTAGCAGTGC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	19											111	94	100					19																	8201405		2203	4300	6503	8107405	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1212C>T	19.37:g.8201405G>A			8107405	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8201405	G	A	8201405	2	1	79	1	0	0	0	0	0	0	0	1	5704	1219	43	2		2	FBN3	19	8201405	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	5401661	8201405	50927578	152	4116											
TMED1	11018	genome.wustl.edu	37	19	10945964	10945964	+	Silent	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:10945964G>T	ENST00000214869.2	-	2	347	c.249C>A	c.(247-249)gtC>gtA	p.V83V	TMED1_ENST00000588289.1_5'UTR|TMED1_ENST00000591695.1_Silent_p.V83V|C19orf38_ENST00000592854.1_5'Flank	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	83	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.V83V(1)		breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GGGACTCGCTGACCAACAGCA	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19											146	115	126					19																	10945964		2203	4300	6503	10806964	SO:0001819	synonymous_variant	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.249C>A	19.37:g.10945964G>T			10806964		Silent	SNP	ENST00000214869.2	37	CCDS12249.1																																																																																				0.632	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		T	10945964	G	T	10945964	2	4	79	1	0	0	0	0	0	0	0	1	16002	1277	45	3		3	TMED1	19	10945964	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	2744559	10945964	48183019	153	4117											
HOOK2	29911	genome.wustl.edu	37	19	12881827	12881827	+	Missense_Mutation	SNP	G	G	A	rs144845831	byFrequency	TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:12881827G>A	ENST00000397668.3	-	10	894	c.821C>T	c.(820-822)gCg>gTg	p.A274V	HOOK2_ENST00000264827.5_Missense_Mutation_p.A274V|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	274	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.A274V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CTGCAGCTCCGCAACCTCCCT	0.657													g|||	5	0.000998403	0.0038	0	5008	,	,		13960	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19							VAL/ALA,VAL/ALA	14,4120		0,14,2053	28	34	32		821,821	1.5	0	19	dbSNP_134	32	0,8382		0,0,4191	yes	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	64,64	0,14,6244	AA,AG,GG		0.0,0.3387,0.1119	benign,benign	274/718,274/720	12881827	14,12502	2067	4191	6258	12742827	SO:0001583	missense	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.821C>T	19.37:g.12881827G>A	ENSP00000380785:p.Ala274Val		12742827	O60562	Missense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	g	0.104	-1.147602	0.01714	0.003387	0.0	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.17213	2.29;2.29	4.8	1.52	0.23074	.	1.326580	0.04765	N	0.426993	T	0.06645	0.0170	N	0.25647	0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.27468	-1.0073	10	0.02654	T	1	2.4459	3.1019	0.06329	0.2816:0.0:0.4249:0.2935	.	274;274	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	V	274	ENSP00000380785:A274V;ENSP00000264827:A274V	ENSP00000264827:A274V	A	-	2	0	HOOK2	12742827	0.000000	0.05858	0.000000	0.03702	0.613000	0.37349	-0.051000	0.11885	0.463000	0.27118	-0.394000	0.06481	GCG		0.657	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		A	12881827	G	A	12881827	3	1	79	1	0	0	0	0	1	0	0	0	7283	1087	38	1	1394	1	HOOK2	19	12881827	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	1935863	12881827	46247156	154	4118											
CACNA1A	773	genome.wustl.edu	37	19	13397396	13397396	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:13397396C>G	ENST00000360228.5	-	20	3473	c.3474G>C	c.(3472-3474)aaG>aaC	p.K1158N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.K1159N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1159					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.K1159N(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTGGCAGTCTTAGCTGAAT	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											51	52	52					19																	13397396		1979	4139	6118	13258396	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3474G>C	19.37:g.13397396C>G	ENSP00000353362:p.Lys1158Asn		13258396	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829472	0.50845	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.37235	1.21	5.3	5.3	0.74995	.	1.335510	0.04843	N	0.440888	T	0.29158	0.0725	N	0.01048	-1.04	0.35814	D	0.824071	D;D;B	0.57257	0.968;0.979;0.421	P;P;B	0.56434	0.482;0.798;0.154	T	0.40534	-0.9558	10	0.42905	T	0.14	.	11.9305	0.52843	0.0:0.9154:0.0:0.0846	.	1159;1162;1158	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	N	1158;1162;1159;1159	ENSP00000353362:K1158N	ENSP00000317661:K1159N	K	-	3	2	CACNA1A	13258396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.364000	0.44187	2.485000	0.83878	0.555000	0.69702	AAG		0.622	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		G	13397396	C	G	13397396	3	3	79	1	0	0	0	0	1	0	0	0	2538	912	32	3	4260	3	CACNA1A	19	13397396	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	515569	13397396	45731587	155	4119											
UPF1	5976	genome.wustl.edu	37	19	18963027	18963027	+	Silent	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:18963027C>T	ENST00000599848.1	+	6	1103	c.894C>T	c.(892-894)gaC>gaT	p.D298D	UPF1_ENST00000262803.5_Silent_p.D298D|UPF1_ENST00000600310.1_3'UTR			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	298	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D298D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GGTACGAGGACGCCTACCAGT	0.597																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	19											96	84	88					19																	18963027		2203	4300	6503	18824027	SO:0001819	synonymous_variant	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.894C>T	19.37:g.18963027C>T			18824027	O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37																																																																																					0.597	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		T	18963027	C	T	18963027	2	4	79	1	0	0	0	0	0	0	0	1	17003	535	19	1		1	UPF1	19	18963027	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	5565631	18963027	40165956	156	4120											
ZNF536	9745	genome.wustl.edu	37	19	30934635	30934635	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:30934635C>G	ENST00000355537.3	+	2	313	c.166C>G	c.(166-168)Ccc>Gcc	p.P56A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	56					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.P56A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGGCCCAACCCCGAGGAGAA	0.672																																																1	Substitution - Missense(1)	ovary(1)	19											50	53	52					19																	30934635		2203	4300	6503	35626475	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.166C>G	19.37:g.30934635C>G	ENSP00000347730:p.Pro56Ala		35626475	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	7.719	0.696807	0.15106	.	.	ENSG00000198597	ENST00000355537	T	0.10477	2.87	5.37	0.686	0.18015	.	0.165377	0.56097	D	0.000040	T	0.06234	0.0161	L	0.27053	0.805	0.40082	D	0.976146	B;B	0.11235	0.001;0.004	B;B	0.10450	0.001;0.005	T	0.32508	-0.9904	10	0.32370	T	0.25	-7.8124	5.076	0.14632	0.2374:0.4648:0.2309:0.0669	.	56;56	A7E228;O15090	.;ZN536_HUMAN	A	56	ENSP00000347730:P56A	ENSP00000347730:P56A	P	+	1	0	ZNF536	35626475	0.989000	0.36119	0.137000	0.22149	0.894000	0.52154	0.881000	0.28173	0.321000	0.23259	0.462000	0.41574	CCC		0.672	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		G	30934635	C	G	30934635	3	3	79	1	0	0	0	0	1	0	0	0	17974	623	22	3	168	3	ZNF536	19	30934635	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	11971608	30934635	28194348	157	4121											
FFAR3	2865	genome.wustl.edu	37	19	35849888	35849888	+	Silent	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:35849888C>T	ENST00000327809.4	+	2	297	c.96C>T	c.(94-96)aaC>aaT	p.N32N	FFAR3_ENST00000594310.1_Silent_p.N32N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	32					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.N32N(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCCCCCTCAACCTGCTGGCCC	0.647																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)											1	Substitution - coding silent(1)	ovary(1)	19											101	94	96					19																	35849888		2199	4294	6493	40541728	SO:0001819	synonymous_variant	2865			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.96C>T	19.37:g.35849888C>T			40541728	B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	CCDS12459.1																																																																																				0.647	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		T	35849888	C	T	35849888	2	4	79	1	0	0	0	0	0	0	0	1	5829	506	18	2		2	FFAR3	19	35849888	Silent	SNP	C	TCGA-13-0760-01A-01W-0372-09	4915253	35849888	23279095	158	4122											
ZNF568	374900	genome.wustl.edu	37	19	37440552	37440552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:37440552C>A	ENST00000333987.7	+	7	1003	c.497C>A	c.(496-498)tCa>tAa	p.S166*	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Nonsense_Mutation_p.S102*	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	166					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.S166*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTCTGAGTTCAGACATTGTT	0.343																																																1	Substitution - Nonsense(1)	ovary(1)	19											89	82	84					19																	37440552		1839	4084	5923	42132392	SO:0001587	stop_gained	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.497C>A	19.37:g.37440552C>A	ENSP00000334685:p.Ser166*		42132392	B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712055	0.89112	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	4.39	2.2	0.27929	.	0.000000	0.30890	N	0.008675	.	.	.	.	.	.	0.20196	N	0.999922	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0015	0.36085	0.0:0.8198:0.0:0.1802	.	.	.	.	X	166;102	.	ENSP00000334685:S166X	S	+	2	0	ZNF568	42132392	0.024000	0.19004	0.033000	0.17914	0.744000	0.42396	2.547000	0.45786	0.561000	0.29186	0.655000	0.94253	TCA		0.343	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		A	37440552	C	A	37440552	4	1	79	1	0	0	0	0	0	1	0	0	17999	838	29	3	515	3	ZNF568	19	37440552	Nonsense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	1590664	37440552	21688431	159	4123											
EIF3K	11184	genome.wustl.edu	37	19	39109960	39109960	+	5'Flank	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:39109960A>G	ENST00000591517.1	-	0	0				EIF3K_ENST00000538434.1_Intron|EIF3K_ENST00000248342.4_Missense_Mutation_p.I18V|EIF3K_ENST00000593062.1_3'UTR|MAP4K1_ENST00000396857.2_5'Flank|EIF3K_ENST00000593149.1_Intron|EIF3K_ENST00000545173.2_Missense_Mutation_p.I18V|MAP4K1_ENST00000589130.1_5'Flank|MAP4K1_ENST00000586296.1_5'Flank|EIF3K_ENST00000588934.1_Missense_Mutation_p.I18V|EIF3K_ENST00000592558.1_Missense_Mutation_p.I18V	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1						activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.I18V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTCAAGGGTATCGACAGGTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											121	90	100					19																	39109960		2203	4300	6503	43801800	SO:0001631	upstream_gene_variant	27335			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918			19.37:g.39109960A>G	Exception_encountered		43801800		Missense_Mutation	SNP	ENST00000591517.1	37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.869461	0.72065	.	.	ENSG00000178982	ENST00000248342;ENST00000545173	.	.	.	5.64	5.64	0.86602	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.049034	0.85682	D	0.000000	T	0.52885	0.1762	L	0.28649	0.875	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.16722	0.009;0.016	T	0.52071	-0.8624	9	0.87932	D	0	-22.2251	14.8184	0.70052	1.0:0.0:0.0:0.0	.	18;18	B7ZAM9;Q9UBQ5	.;EIF3K_HUMAN	V	18	.	ENSP00000248342:I18V	I	+	1	0	EIF3K	43801800	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.383000	0.90157	2.137000	0.66172	0.460000	0.39030	ATC		0.607	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		G	39109960	A	G	39109960	1	3	79	0	1	0	0	0	0	0	0	0	5021	449	16	4		4	EIF3K	19	39109960	5'Flank	SNP	A	TCGA-13-0760-01A-01W-0372-09	1669408	39109960	20019023	160	4124											
PAK4	10298	genome.wustl.edu	37	19	39669141	39669141	+	Silent	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:39669141G>A	ENST00000593690.1	+	11	2125	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	PAK4_ENST00000360442.3_Silent_p.L566L|PAK4_ENST00000599470.1_Silent_p.L413L|PAK4_ENST00000321944.4_Silent_p.L476L|PAK4_ENST00000358301.3_Silent_p.L566L|PAK4_ENST00000435673.2_Silent_p.L566L|PAK4_ENST00000599386.1_Silent_p.L413L	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	566	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L566L(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CAGCCGAGCTGCTGAAGCACC	0.687																																																1	Substitution - coding silent(1)	ovary(1)	19											19	20	19					19																	39669141		2184	4274	6458	44360981	SO:0001819	synonymous_variant	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1698G>A	19.37:g.39669141G>A			44360981	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	ENST00000593690.1	37	CCDS12528.1																																																																																				0.687	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			A	39669141	G	A	39669141	2	1	79	1	0	0	0	0	0	0	0	1	11403	1306	46	2		2	PAK4	19	39669141	Silent	SNP	G	TCGA-13-0760-01A-01W-0372-09	559181	39669141	19459842	161	4125											
CGB5	93659	genome.wustl.edu	37	19	49548354	49548354	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:49548354T>C	ENST00000301408.6	+	3	627	c.301T>C	c.(301-303)Tcc>Ccc	p.S101P	CGB1_ENST00000391869.3_Intron	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	101					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.S101P(1)		ovary(1)|pancreas(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCCCGTGGTCTCCTACGCCGT	0.682																																																1	Substitution - Missense(1)	ovary(1)	19											1	1	1					19																	49548354		489	1384	1873	54240166	SO:0001583	missense	93659			X00265	CCDS12752.1	19q13.32	2008-02-05				ENSG00000189052			16452	protein-coding gene	gene with protein product		608825				6194155	Standard	NM_033043		Approved	HCG	uc002ply.3	P01233		ENST00000301408.6:c.301T>C	19.37:g.49548354T>C	ENSP00000301408:p.Ser101Pro		54240166	A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	ENST00000301408.6	37	CCDS12752.1	.	.	.	.	.	.	.	.	.	.	t	11.17	1.559914	0.27827	.	.	ENSG00000189052	ENST00000428927;ENST00000301408	D	0.91464	-2.85	1.83	1.83	0.25207	.	0.334108	0.29838	N	0.011077	D	0.88303	0.6400	.	.	.	0.30968	N	0.722915	.	.	.	.	.	.	D	0.85763	0.1350	7	0.87932	D	0	-23.6987	4.0398	0.09746	0.318:0.0:0.0:0.682	.	.	.	.	P	104;101	ENSP00000301408:S101P	ENSP00000301408:S101P	S	+	1	0	CGB5	54240166	1.000000	0.71417	0.995000	0.50966	0.011000	0.07611	1.269000	0.33074	1.083000	0.41159	0.164000	0.16699	TCC		0.682	CGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466251.1	NM_033043		C	49548354	T	C	49548354	3	2	79	1	0	0	0	0	1	0	0	0	3299	1551	54	4	311	4	CGB5	19	49548354	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	9879213	49548354	9580629	162	4126											
KIR3DL3	115653	genome.wustl.edu	37	19	55239325	55239325	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:55239325T>A	ENST00000291860.1	+	4	622	c.604T>A	c.(604-606)Tta>Ata	p.L202I	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L202I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGTCACTCACTTACCCTATGA	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											19	17	18					19																	55239325		1937	3250	5187	59931137	SO:0001583	missense	115653			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.604T>A	19.37:g.55239325T>A	ENSP00000291860:p.Leu202Ile		59931137	A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	8.293	0.818200	0.16607	.	.	ENSG00000242019	ENST00000291860	T	0.00737	5.76	1.38	0.111	0.14619	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.715540	0.01875	U	0.037471	T	0.00580	0.0019	N	0.03154	-0.405	0.09310	N	1	B	0.24186	0.099	B	0.28139	0.086	T	0.45190	-0.9278	10	0.72032	D	0.01	.	3.1684	0.06544	0.3813:0.0:0.0:0.6187	.	202	Q8N743	KI3L3_HUMAN	I	202	ENSP00000291860:L202I	ENSP00000291860:L202I	L	+	1	2	KIR3DL3	59931137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.065000	0.14466	-0.025000	0.13918	0.172000	0.16884	TTA		0.552	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		A	55239325	T	A	55239325	3	1	79	1	0	0	0	0	1	0	0	0	8322	1606	56	5	618	5	KIR3DL3	19	55239325	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	5690971	55239325	3889658	163	4127											
NAT14	57106	genome.wustl.edu	37	19	55998176	55998176	+	Missense_Mutation	SNP	G	G	T	rs530693711	byFrequency	TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:55998176G>T	ENST00000205194.4	+	3	777	c.474G>T	c.(472-474)atG>atT	p.M158I	SSC5D_ENST00000587166.1_5'Flank|SSC5D_ENST00000389623.6_5'Flank|NAT14_ENST00000592719.1_Intron|NAT14_ENST00000587400.1_Intron	NM_020378.3	NP_065111.1	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14 (GCN5-related, putative)	158	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of transcription, DNA-templated (GO:0045893)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|N-acetyltransferase activity (GO:0008080)	p.M158I(1)		central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		CTGGGGGCATGGGGGAGCCCC	0.781													g|||	2	0.000399361	0	0	5008	,	,		8646	0		0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	19											2	2	2					19																	55998176		1255	2867	4122	60689988	SO:0001583	missense	57106			AB055059	CCDS12926.1	19q13.42	2011-11-25	2008-09-24		ENSG00000090971	ENSG00000090971			28918	protein-coding gene	gene with protein product	"K562 cells-derived leucine zipper-like protein 1"		"N-acetyltransferase 14"			10873651	Standard	NM_020378		Approved	KLP1	uc002qle.2	Q8WUY8		ENST00000205194.4:c.474G>T	19.37:g.55998176G>T	ENSP00000205194:p.Met158Ile		60689988	Q8TDY7|Q9NS72	Missense_Mutation	SNP	ENST00000205194.4	37	CCDS12926.1	.	.	.	.	.	.	.	.	.	.	.	8.796	0.931823	0.18131	.	.	ENSG00000090971	ENST00000205194	.	.	.	3.81	-2.89	0.05665	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.924705	0.08992	N	0.864213	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	9	0.32370	T	0.25	-40.4463	0.3278	0.00314	0.2218:0.1697:0.2635:0.345	.	158	Q8WUY8	NAT14_HUMAN	I	158	.	ENSP00000205194:M158I	M	+	3	0	NAT14	60689988	0.682000	0.27624	0.274000	0.24659	0.958000	0.62258	0.752000	0.26362	-0.261000	0.09405	0.313000	0.20887	ATG		0.781	NAT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453339.1	NM_020378		T	55998176	G	T	55998176	3	4	79	1	0	0	0	0	1	0	0	0	10175	1348	47	3	480	3	NAT14	19	55998176	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	758851	55998176	3130807	164	4128											
ZNF470	388566	genome.wustl.edu	37	19	57088459	57088459	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr19:57088459A>G	ENST00000330619.8	+	6	1348	c.662A>G	c.(661-663)gAc>gGc	p.D221G	ZNF470_ENST00000391709.3_Missense_Mutation_p.D221G|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	221					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.D221G(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CACAAGCAAGACCGTGGAGAA	0.303																																																1	Substitution - Missense(1)	ovary(1)	19											38	40	39					19																	57088459		2203	4297	6500	61780271	SO:0001583	missense	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.662A>G	19.37:g.57088459A>G	ENSP00000333223:p.Asp221Gly		61780271	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	A	0.611	-0.824914	0.02755	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06528	3.29;3.29	3.8	0.445	0.16597	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42515	-0.9447	9	0.62326	D	0.03	.	3.8524	0.08960	0.1643:0.1933:0.0:0.6424	.	221	Q6ECI4	ZN470_HUMAN	G	221	ENSP00000375590:D221G;ENSP00000333223:D221G	ENSP00000333223:D221G	D	+	2	0	ZNF470	61780271	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.524000	0.06222	-0.184000	0.10567	-0.710000	0.03640	GAC		0.303	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		G	57088459	A	G	57088459	3	3	79	1	0	0	0	0	1	0	0	0	17929	275	10	4	676	4	ZNF470	19	57088459	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	1090283	57088459	2040524	165	4129											
KIF3B	9371	genome.wustl.edu	37	20	30904343	30904343	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr20:30904343G>C	ENST00000375712.3	+	4	1687	c.1520G>C	c.(1519-1521)aGa>aCa	p.R507T	KIF3B_ENST00000418717.2_Missense_Mutation_p.R133T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	507					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R507T(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTCGAGAAAGAGAAATCCAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	20											61	57	59					20																	30904343		2203	4300	6503	30368004	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1520G>C	20.37:g.30904343G>C	ENSP00000364864:p.Arg507Thr		30368004	B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710738	0.48517	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.74947	-0.89;0.44	4.42	4.42	0.53409	.	0.059695	0.64402	D	0.000003	T	0.79435	0.4445	M	0.77616	2.38	0.80722	D	1	P;P	0.47253	0.892;0.884	P;B	0.48189	0.57;0.298	T	0.78196	-0.2298	10	0.23302	T	0.38	.	17.5708	0.87933	0.0:0.0:1.0:0.0	.	133;507	B4DSR5;O15066	.;KIF3B_HUMAN	T	507;133	ENSP00000364864:R507T;ENSP00000406287:R133T	ENSP00000364864:R507T	R	+	2	0	KIF3B	30368004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.571000	0.98176	2.447000	0.82792	0.542000	0.68232	AGA		0.458	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		C	30904343	G	C	30904343	3	2	79	1	0	0	0	0	1	0	0	0	8301	942	33	3	1530	3	KIF3B	20	30904343	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09		30904343	32121177	166	4130											
BPI	671	genome.wustl.edu	37	20	36952363	36952363	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr20:36952363T>C	ENST00000262865.4	+	8	949	c.860T>C	c.(859-861)cTg>cCg	p.L287P	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	287					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.L287P(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGGTATACCTGGGCCTCTCA	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											110	93	99					20																	36952363		2203	4300	6503	36385777	SO:0001583	missense	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.860T>C	20.37:g.36952363T>C	ENSP00000262865:p.Leu287Pro		36385777	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.49|19.49	3.837042|3.837042	0.71373|0.71373	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.13778|.	2.56|.	4.5|4.5	4.5|4.5	0.54988|0.54988	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	0.320195|.	0.25768|.	N|.	0.028433|.	T|T	0.71986|0.71986	0.3405|0.3405	M|M	0.73962|0.73962	2.25|2.25	0.38883|0.38883	D|D	0.95695|0.95695	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.74861|0.74861	-0.3520|-0.3520	10|5	0.72032|.	D|.	0.01|.	-10.5829|-10.5829	12.1087|12.1087	0.53827|0.53827	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	287|.	P17213|.	BPI_HUMAN|.	P|R	287|113	ENSP00000262865:L287P|.	ENSP00000262865:L287P|.	L|W	+|+	2|1	0|0	BPI|BPI	36385777|36385777	1.000000|1.000000	0.71417|0.71417	0.191000|0.191000	0.23289|0.23289	0.468000|0.468000	0.32798|0.32798	3.434000|3.434000	0.52841|0.52841	2.020000|2.020000	0.59435|0.59435	0.533000|0.533000	0.62120|0.62120	CTG|TGG		0.547	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		C	36952363	T	C	36952363	3	2	79	1	0	0	0	0	1	0	0	0	1490	1580	55	4	890	4	BPI	20	36952363	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	6048020	36952363	26073157	167	4131											
CDH26	60437	genome.wustl.edu	37	20	58570969	58570969	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr20:58570969G>A	ENST00000244047.5	+	12	2059	c.1748G>A	c.(1747-1749)gGa>gAa	p.G583E	CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.G583E|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26	583					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G583E(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GACAAACAGGGACTTTCCCAG	0.498																																																1	Substitution - Missense(1)	ovary(1)	20											128	115	120					20																	58570969		2203	4300	6503	58004364	SO:0001583	missense	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1748G>A	20.37:g.58570969G>A	ENSP00000244047:p.Gly583Glu		58004364	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.38|16.38	3.106356|3.106356	0.56291|0.56291	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616	.|T;T	.|0.62364	.|0.03;0.03	4.56|4.56	4.56|4.56	0.56223|0.56223	.|Cadherin-like (1);	.|0.276491	.|0.36703	.|N	.|0.002442	T|T	0.78868|0.78868	0.4351|0.4351	M|M	0.73598|0.73598	2.24|2.24	0.42896|0.42896	D|D	0.994211|0.994211	.|P;D	.|0.89917	.|0.609;1.0	.|P;D	.|0.91635	.|0.453;0.999	T|T	0.82392|0.82392	-0.0480|-0.0480	5|10	.|0.72032	.|D	.|0.01	.|.	16.4509|16.4509	0.83990|0.83990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|583;583	.|Q8IXH8;Q8IXH8-4	.|CAD26_HUMAN;.	N|E	175|583	.|ENSP00000244047:G583E;ENSP00000339390:G583E	.|ENSP00000244047:G583E	D|G	+|+	1|2	0|0	CDH26|CDH26	58004364|58004364	1.000000|1.000000	0.71417|0.71417	0.196000|0.196000	0.23383|0.23383	0.455000|0.455000	0.32408|0.32408	5.605000|5.605000	0.67634|0.67634	2.239000|2.239000	0.73571|0.73571	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.498	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		A	58570969	G	A	58570969	3	1	79	1	0	0	0	0	1	0	0	0	3110	1174	41	2	1794	2	CDH26	20	58570969	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	21618606	58570969	4454551	168	4132											
SLC5A3	6526	genome.wustl.edu	37	21	35468095	35468095	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr21:35468095A>G	ENST00000381151.3	+	2	1110	c.598A>G	c.(598-600)Atg>Gtg	p.M200V	SLC5A3_ENST00000608209.1_Missense_Mutation_p.M200V|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	200					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)	p.M200V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ACTTACACTTATGATTATTAG	0.468																																																1	Substitution - Missense(1)	ovary(1)	21											83	76	79					21																	35468095		2203	4300	6503	34389965	SO:0001583	missense	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.598A>G	21.37:g.35468095A>G	ENSP00000370543:p.Met200Val		34389965	O43489	Missense_Mutation	SNP	ENST00000381151.3	37	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312630	0.40895	.	.	ENSG00000198743	ENST00000381151	D	0.87966	-2.32	5.72	5.72	0.89469	.	0.148560	0.64402	D	0.000015	D	0.82829	0.5122	L	0.41632	1.29	0.40723	D	0.982671	P	0.41345	0.746	B	0.37550	0.253	D	0.85741	0.1337	10	0.87932	D	0	.	15.6743	0.77303	1.0:0.0:0.0:0.0	.	200	P53794	SC5A3_HUMAN	V	200	ENSP00000370543:M200V	ENSP00000370543:M200V	M	+	1	0	SLC5A3	34389965	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.339000	0.96797	2.180000	0.69256	0.496000	0.49642	ATG		0.468	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			G	35468095	A	G	35468095	3	3	79	1	0	0	0	0	1	0	0	0	14669	449	16	4	600	4	SLC5A3	21	35468095	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09		35468095	12661800	169	4133											
CHAF1B	8208	genome.wustl.edu	37	21	37758546	37758546	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr21:37758546G>T	ENST00000314103.5	+	2	263	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	38					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.D38Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TGCCGGCGTGGACACCAATGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	21											66	71	69					21																	37758546		2203	4300	6503	36680416	SO:0001583	missense	8208			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.112G>T	21.37:g.37758546G>T	ENSP00000315700:p.Asp38Tyr		36680416	Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148325	0.78001	.	.	ENSG00000159259	ENST00000314103	T	0.75050	-0.9	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89494	0.6731	M	0.94021	3.485	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.92697	0.6171	9	.	.	.	-23.9711	17.0666	0.86561	0.0:0.0:1.0:0.0	.	38	Q13112	CAF1B_HUMAN	Y	38	ENSP00000315700:D38Y	.	D	+	1	0	CHAF1B	36680416	1.000000	0.71417	0.995000	0.50966	0.424000	0.31475	9.156000	0.94705	2.093000	0.63338	0.561000	0.74099	GAC		0.537	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		T	37758546	G	T	37758546	3	4	79	1	0	0	0	0	1	0	0	0	3312	1174	41	3	114	3	CHAF1B	21	37758546	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	2290451	37758546	10371349	170	4134											
C2CD2	25966	genome.wustl.edu	37	21	43327785	43327785	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr21:43327785C>G	ENST00000380486.3	-	9	1368	c.1127G>C	c.(1126-1128)gGc>gCc	p.G376A	C2CD2_ENST00000329623.7_Missense_Mutation_p.G221A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	376						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G376A(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGTGACCGAGCCCAGCACCGA	0.637																																																1	Substitution - Missense(1)	ovary(1)	21											22	25	24					21																	43327785		2203	4300	6503	42200854	SO:0001583	missense	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1127G>C	21.37:g.43327785C>G	ENSP00000369853:p.Gly376Ala		42200854	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413120	0.42817	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.78481	-1.18;-1.18	5.51	5.51	0.81932	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82870	0.5131	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78265	-0.2271	10	0.19590	T	0.45	-28.0822	19.0649	0.93106	0.0:1.0:0.0:0.0	.	221;376	Q6P6D1;Q9Y426	.;CU025_HUMAN	A	221;376	ENSP00000329302:G221A;ENSP00000369853:G376A	ENSP00000329302:G221A	G	-	2	0	C2CD2	42200854	1.000000	0.71417	0.984000	0.44739	0.116000	0.19942	5.295000	0.65692	2.590000	0.87494	0.650000	0.86243	GGC		0.637	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		G	43327785	C	G	43327785	3	3	79	1	0	0	0	0	1	0	0	0	2152	739	26	3	987	3	C2CD2	21	43327785	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	5569239	43327785	4802110	171	4135											
TMPRSS3	64699	genome.wustl.edu	37	21	43796684	43796684	+	Missense_Mutation	SNP	G	G	T	rs201172277		TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr21:43796684G>T	ENST00000291532.3	-	11	2115	c.1160C>A	c.(1159-1161)gCg>gAg	p.A387E	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.A471E|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.A386E|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.A384E	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	387	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012). {ECO:0000305}.	cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)	p.A387E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGGTAGCCCGCGCAGAGCAT	0.662																																																1	Substitution - Missense(1)	ovary(1)	21											115	100	105					21																	43796684		2203	4300	6503	42669753	SO:0001583	missense	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1160C>A	21.37:g.43796684G>T	ENSP00000291532:p.Ala387Glu		42669753	D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832807	0.91036	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399	D;D;D;D	0.91521	-2.86;-2.06;-2.06;-2.86	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97025	0.9028	H	0.95884	3.735	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	D	0.98516	1.0621	9	.	.	.	.	18.1681	0.89734	0.0:0.0:1.0:0.0	.	386;387;384	P57727-5;P57727;B7WPR2	.;TMPS3_HUMAN;.	E	387;386;384;471	ENSP00000291532:A387E;ENSP00000411013:A386E;ENSP00000381442:A384E;ENSP00000369762:A471E	.	A	-	2	0	TMPRSS3	42669753	1.000000	0.71417	0.491000	0.27477	0.822000	0.46500	9.048000	0.93830	2.269000	0.75478	0.591000	0.81541	GCG		0.662	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			T	43796684	G	T	43796684	3	4	79	1	0	0	0	0	1	0	0	0	16248	1087	38	3	216	3	TMPRSS3	21	43796684	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	468899	43796684	4333211	172	4136											
PTTG1IP	754	genome.wustl.edu	37	21	46276241	46276241	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr21:46276241C>G	ENST00000330938.3	-	4	536	c.316G>C	c.(316-318)Ggg>Cgg	p.G106R	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_Missense_Mutation_p.G85R|PTTG1IP_ENST00000445724.2_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	106					multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)	p.G106R(1)		ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		AGGGTTCCCCCGACTACCGAC	0.607																																																1	Substitution - Missense(1)	ovary(1)	21											101	85	90					21																	46276241		2203	4300	6503	45100669	SO:0001583	missense	754			AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.316G>C	21.37:g.46276241C>G	ENSP00000328325:p.Gly106Arg		45100669	B2RDP7|D3DSL9|Q9NS09	Missense_Mutation	SNP	ENST00000330938.3	37	CCDS13715.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608734	0.46527	.	.	ENSG00000183255	ENST00000330938;ENST00000397886	T;T	0.58210	0.35;0.35	5.02	4.13	0.48395	.	0.309727	0.34362	N	0.004033	T	0.72382	0.3453	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75986	-0.3124	10	0.72032	D	0.01	-12.0936	11.4386	0.50083	0.0:0.9098:0.0:0.0902	.	106	P53801	PTTG_HUMAN	R	106;85	ENSP00000328325:G106R;ENSP00000380983:G85R	ENSP00000328325:G106R	G	-	1	0	PTTG1IP	45100669	0.967000	0.33354	0.078000	0.20375	0.004000	0.04260	5.952000	0.70282	1.215000	0.43411	0.579000	0.79373	GGG		0.607	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			G	46276241	C	G	46276241	3	3	79	1	0	0	0	0	1	0	0	0	12823	652	23	3	238	3	PTTG1IP	21	46276241	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	2479557	46276241	1853654	173	4137											
TEF	7008	genome.wustl.edu	37	22	41783493	41783498	+	In_Frame_Del	DEL	TGGACC	TGGACC	-			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	TGGACC	TGGACC	TGGACC	-	TGGACC	TGGACC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chr22:41783493_41783498delTGGACC	ENST00000266304.4	+	2	412_417	c.296_301delTGGACC	c.(295-303)atggacctg>atg	p.DL100del	TEF_ENST00000406644.3_In_Frame_Del_p.DL70del	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	100					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L101_D102del(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTGGAGTACATGGACCTGGATGAGTT	0.607																																																1	Deletion - In frame(1)	ovary(1)	22																																								40113444	SO:0001651	inframe_deletion	7008				CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"basic leucine zipper proteins"	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.296_301delTGGACC	22.37:g.41783493_41783498delTGGACC	ENSP00000266304:p.Asp100_Leu101del		40113439	B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	In_Frame_Del	DEL	ENST00000266304.4	37	CCDS14014.1																																																																																				0.607	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		-	41783498	TGGACC	-	41783493	7	5	79	1	0	1	0	1	0	0	0	0	15750	1464	51	0	373	0	TEF	22	41783493	In_Frame_Del	DEL	TGGACC	TCGA-13-0760-01A-01W-0372-09		41783493	9521073	174	4138											
DDX3X	1654	genome.wustl.edu	37	X	41206139	41206139	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:41206139G>C	ENST00000399959.2	+	15	2498	c.1643G>C	c.(1642-1644)aGg>aCg	p.R548T	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.R532T|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	548	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.R548T(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTTAACGAGAGGAACATAAAT	0.358										HNSCC(61;0.18)																																						1	Substitution - Missense(1)	ovary(1)	X											88	85	86					X																	41206139		2135	4249	6384	41091083	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1643G>C	X.37:g.41206139G>C	ENSP00000382840:p.Arg548Thr		41091083	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808078	0.50421	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.04758	3.56;3.56	5.28	5.28	0.74379	Helicase, C-terminal (1);	0.043865	0.85682	D	0.000000	T	0.04952	0.0133	L	0.39147	1.195	0.80722	D	1	B;B;P;P	0.37015	0.002;0.052;0.578;0.578	B;B;B;B	0.31191	0.003;0.033;0.125;0.125	T	0.36504	-0.9745	10	0.62326	D	0.03	-8.0171	11.6173	0.51096	0.0835:0.0:0.9165:0.0	.	418;532;560;548	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	T	548;532	ENSP00000382840:R548T;ENSP00000392494:R532T	ENSP00000382840:R548T	R	+	2	0	DDX3X	41091083	1.000000	0.71417	0.954000	0.39281	0.984000	0.73092	7.426000	0.80270	2.209000	0.71365	0.529000	0.55759	AGG		0.358	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		C	41206139	G	C	41206139	3	2	79	1	0	0	0	0	1	0	0	0	4358	1000	35	3	1701	3	DDX3X	23	41206139	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09		41206139	114064421	175	4139	11	2									
DDX3X	1654	genome.wustl.edu	37	X	41206147	41206147	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:41206147A>C	ENST00000399959.2	+	15	2506	c.1651A>C	c.(1651-1653)Aat>Cat	p.N551H	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.N535H|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	551	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.N551H(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GAGGAACATAAATATTACTAA	0.368										HNSCC(61;0.18)																																						1	Substitution - Missense(1)	ovary(1)	X											89	87	88					X																	41206147		2146	4254	6400	41091091	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1651A>C	X.37:g.41206147A>C	ENSP00000382840:p.Asn551His		41091091	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147668	0.77888	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.04758	3.56;3.56	5.28	5.28	0.74379	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13114	0.0318	L	0.39020	1.185	0.80722	D	1	B;P;D;D	0.76494	0.007;0.665;0.999;0.999	B;B;D;D	0.66351	0.002;0.078;0.943;0.918	T	0.01252	-1.1405	10	0.87932	D	0	-7.9939	14.3593	0.66761	1.0:0.0:0.0:0.0	.	421;535;563;551	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	H	551;535	ENSP00000382840:N551H;ENSP00000392494:N535H	ENSP00000382840:N551H	N	+	1	0	DDX3X	41091091	1.000000	0.71417	0.565000	0.28409	0.969000	0.65631	9.284000	0.95882	1.770000	0.52166	0.430000	0.28490	AAT		0.368	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		C	41206147	A	C	41206147	3	2	79	1	0	0	0	0	1	0	0	0	4358	14	1	5	1709	5	DDX3X	23	41206147	Missense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	8	41206147	114064413	176	4140	11	2									
MAGED1	9500	genome.wustl.edu	37	X	51638326	51638326	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:51638326A>T	ENST00000375722.1	+	3	475	c.223A>T	c.(223-225)Aag>Tag	p.K75*	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Nonsense_Mutation_p.K75*|MAGED1_ENST00000375772.3_Nonsense_Mutation_p.K75*|MAGED1_ENST00000375695.2_Nonsense_Mutation_p.K131*			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	75					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.K131*(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CGCTAGGCCTAAGTCAGCCTT	0.532										Multiple Myeloma(10;0.10)																																						1	Substitution - Nonsense(1)	ovary(1)	X											45	36	39					X																	51638326		2203	4300	6503	51655066	SO:0001587	stop_gained	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.223A>T	X.37:g.51638326A>T	ENSP00000364874:p.Lys75*		51655066	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Nonsense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.045835	0.93685	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695;ENST00000430189	.	.	.	3.47	2.3	0.28687	.	0.000000	0.41938	D	0.000795	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6845	0.12752	0.8515:0.0:0.1485:0.0	.	.	.	.	X	75;75;75;131;75	.	ENSP00000325333:K75X	K	+	1	0	MAGED1	51655066	1.000000	0.71417	0.948000	0.38648	0.972000	0.66771	1.301000	0.33447	0.558000	0.29135	0.372000	0.22366	AAG		0.532	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		T	51638326	A	T	51638326	4	4	79	1	0	0	0	0	0	1	0	0	9183	363	13	5	401	5	MAGED1	23	51638326	Nonsense_Mutation	SNP	A	TCGA-13-0760-01A-01W-0372-09	10432179	51638326	103632234	177	4141											
ARHGEF9	23229	genome.wustl.edu	37	X	62898438	62898438	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:62898438C>A	ENST00000253401.6	-	5	1376	c.576G>T	c.(574-576)tgG>tgT	p.W192C	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.W171C|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.W190C|ARHGEF9_ENST00000433323.2_5'Flank|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.W90C|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.W139C	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	192	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.W190C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CAGAGTATATCCAGAATCCAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											48	41	43					X																	62898438		2203	4300	6503	62815163	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.576G>T	X.37:g.62898438C>A	ENSP00000253401:p.Trp192Cys		62815163	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.979100	0.34942	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	N	0.02011	-0.69	0.80722	D	1	B;B;B;B	0.21147	0.052;0.013;0.013;0.013	B;B;B;B	0.12156	0.007;0.004;0.004;0.004	T	0.32052	-0.9921	10	0.46703	T	0.11	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	139;190;192;192	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	C	192;190;139;90;171	ENSP00000253401:W192C;ENSP00000364012:W190C;ENSP00000399994:W139C;ENSP00000364004:W90C;ENSP00000364006:W171C	ENSP00000253401:W192C	W	-	3	0	ARHGEF9	62815163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.502000	0.66956	2.087000	0.62958	0.600000	0.82982	TGG		0.443	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			A	62898438	C	A	62898438	3	1	79	1	0	0	0	0	1	0	0	0	912	856	30	3	998	3	ARHGEF9	23	62898438	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	11260112	62898438	92372122	178	4142											
AR	367	genome.wustl.edu	37	X	66937331	66937331	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:66937331T>A	ENST00000374690.3	+	5	2709	c.2185T>A	c.(2185-2187)Tta>Ata	p.L729I	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Missense_Mutation_p.L197I	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	728	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L729I(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTTCCGCAACTTACACGTGGA	0.552									Androgen Insensitivity Syndrome																																							1	Substitution - Missense(1)	ovary(1)	X											122	81	95					X																	66937331		2203	4300	6503	66854056	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2185T>A	X.37:g.66937331T>A	ENSP00000363822:p.Leu729Ile		66854056	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.957453	0.73902	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	D;D	0.99955	-8.87;-8.87	4.99	1.25	0.21368	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000001	D	0.99933	0.9970	M	0.85777	2.775	0.80722	D	1	P;D	0.62365	0.825;0.991	P;D	0.80764	0.867;0.994	D	0.96546	0.9404	10	0.87932	D	0	.	7.1037	0.25353	0.0:0.4056:0.0:0.5944	.	197;728	F1D8N5;P10275	.;ANDR_HUMAN	I	539;729;197	ENSP00000363822:L729I;ENSP00000379358:L197I	ENSP00000363822:L729I	L	+	1	2	AR	66854056	0.999000	0.42202	0.993000	0.49108	0.931000	0.56810	0.910000	0.28571	0.252000	0.21531	0.483000	0.47432	TTA		0.552	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		A	66937331	T	A	66937331	3	1	79	1	0	0	0	0	1	0	0	0	836	1606	56	5	2227	5	AR	23	66937331	Missense_Mutation	SNP	T	TCGA-13-0760-01A-01W-0372-09	4038893	66937331	88333229	179	4143											
KIF4A	24137	genome.wustl.edu	37	X	69573489	69573489	+	Silent	SNP	A	A	G			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:69573489A>G	ENST00000374403.3	+	15	1588	c.1506A>G	c.(1504-1506)ccA>ccG	p.P502P	KIF4A_ENST00000374388.3_Silent_p.P502P	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	502					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.P502P(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAACCAGTCCAGAGACGAGCA	0.443																																																1	Substitution - coding silent(1)	ovary(1)	X											43	40	41					X																	69573489		2203	4300	6503	69490214	SO:0001819	synonymous_variant	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1506A>G	X.37:g.69573489A>G			69490214	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	CCDS14401.1																																																																																				0.443	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		G	69573489	A	G	69573489	2	3	79	1	0	0	0	0	0	0	0	1	8303	175	7	4		4	KIF4A	23	69573489	Silent	SNP	A	TCGA-13-0760-01A-01W-0372-09	2636158	69573489	85697071	180	4144											
KLHL4	56062	genome.wustl.edu	37	X	86873049	86873049	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:86873049C>A	ENST00000373119.4	+	4	987	c.842C>A	c.(841-843)cCt>cAt	p.P281H	KLHL4_ENST00000373114.4_Missense_Mutation_p.P281H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	281						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P281H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CAGCTCCATCCTTCAAACTGC	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											106	87	93					X																	86873049		2203	4300	6503	86759705	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.842C>A	X.37:g.86873049C>A	ENSP00000362211:p.Pro281His		86759705	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356767	0.82243	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.77358	-1.09;-1.06	4.74	4.74	0.60224	.	0.061530	0.64402	D	0.000003	D	0.89753	0.6806	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72075	0.946;0.976	D	0.92014	0.5620	10	0.66056	D	0.02	.	15.9642	0.79952	0.0:1.0:0.0:0.0	.	281;281	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	H	281	ENSP00000362211:P281H;ENSP00000362206:P281H	ENSP00000362206:P281H	P	+	2	0	KLHL4	86759705	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.243000	0.78219	1.960000	0.56953	0.502000	0.49764	CCT		0.423	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			A	86873049	C	A	86873049	3	1	79	1	0	0	0	0	1	0	0	0	8391	681	24	3	856	3	KLHL4	23	86873049	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	17299560	86873049	68397511	181	4145											
GPR119	139760	genome.wustl.edu	37	X	129518509	129518509	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:129518509G>A	ENST00000276218.2	-	1	1002	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	305					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.L305F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGAAAGAGGAGGAATGAGGTG	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											84	76	79					X																	129518509		2203	4300	6503	129346190	SO:0001583	missense	139760			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.913C>T	X.37:g.129518509G>A	ENSP00000276218:p.Leu305Phe		129346190	Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	6.583	0.475824	0.12521	.	.	ENSG00000147262	ENST00000276218	T	0.61274	0.12	5.25	3.31	0.37934	.	0.512402	0.17513	N	0.171539	T	0.34890	0.0913	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16808	-1.0390	10	0.10111	T	0.7	-7.246	5.2681	0.15611	0.3219:0.0:0.6781:0.0	.	305	Q8TDV5	GP119_HUMAN	F	305	ENSP00000276218:L305F	ENSP00000276218:L305F	L	-	1	0	GPR119	129346190	0.000000	0.05858	0.102000	0.21198	0.556000	0.35491	0.079000	0.14782	1.170000	0.42753	0.600000	0.82982	CTC		0.547	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		A	129518509	G	A	129518509	3	1	79	1	0	0	0	0	1	0	0	0	6634	1000	35	2	98	2	GPR119	23	129518509	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	42645460	129518509	25752051	182	4146											
SLITRK2	84631	genome.wustl.edu	37	X	144904347	144904347	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:144904347G>A	ENST00000370490.1	+	1	4659	c.404G>A	c.(403-405)aGc>aAc	p.S135N	SLITRK2_ENST00000447897.2_Missense_Mutation_p.S135N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S135N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S135N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S135N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	135					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S135N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGGAGAGCCTGGAGTAT	0.498																																																1	Substitution - Missense(1)	ovary(1)	X											82	64	70					X																	144904347		2203	4300	6503	144712039	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.404G>A	X.37:g.144904347G>A	ENSP00000359521:p.Ser135Asn		144712039	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095549	0.36952	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	4.95	3.18	0.36537	.	0.046626	0.85682	N	0.000000	T	0.31544	0.0800	N	0.11756	0.17	0.47778	D	0.999518	P	0.44521	0.837	B	0.40782	0.34	T	0.35226	-0.9797	10	0.02654	T	1	-6.3428	8.7228	0.34452	0.1922:0.0:0.8078:0.0	.	135	Q9H156	SLIK2_HUMAN	N	135	ENSP00000334374:S135N;ENSP00000411681:S135N;ENSP00000359521:S135N;ENSP00000397015:S135N;ENSP00000407347:S135N;ENSP00000412010:S135N	ENSP00000334374:S135N	S	+	2	0	SLITRK2	144712039	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.769000	0.68865	0.343000	0.23821	-0.192000	0.12808	AGC		0.498	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		A	144904347	G	A	144904347	3	1	79	1	0	0	0	0	1	0	0	0	14746	971	34	2	406	2	SLITRK2	23	144904347	Missense_Mutation	SNP	G	TCGA-13-0760-01A-01W-0372-09	15385838	144904347	10366213	183	4147											
SLC10A3	8273	genome.wustl.edu	37	X	153716442	153716442	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0760-01A-01W-0372-09	TCGA-13-0760-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5181630f-246a-4cb4-88c2-1534b5fb8e37	62d69c6c-457c-40d4-a43a-4aeb93c8bf80	g.chrX:153716442C>T	ENST00000393587.4	-	3	1101	c.838G>A	c.(838-840)Gac>Aac	p.D280N	SLC10A3_ENST00000369649.4_Missense_Mutation_p.D251N|SLC10A3_ENST00000263512.4_Missense_Mutation_p.D280N|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.D335N|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	280					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.D280N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGGTGACGTCCCCTCCAAGA	0.627																																																1	Substitution - Missense(1)	ovary(1)	X											73	67	69					X																	153716442		2203	4300	6503	153369636	SO:0001583	missense	8273			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.838G>A	X.37:g.153716442C>T	ENSP00000377212:p.Asp280Asn		153369636	Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687810	0.88639	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.09	5.09	0.68999	.	0.000000	0.85682	U	0.000000	T	0.32615	0.0835	L	0.55834	1.745	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01613	-1.1312	10	0.33940	T	0.23	-24.661	16.2495	0.82475	0.0:1.0:0.0:0.0	.	251;280	Q9BSL2;P09131	.;P3_HUMAN	N	251;335;280;280	ENSP00000358663:D251N;ENSP00000377211:D335N;ENSP00000263512:D280N;ENSP00000377212:D280N	ENSP00000263512:D280N	D	-	1	0	SLC10A3	153369636	1.000000	0.71417	0.906000	0.35671	0.686000	0.39977	5.184000	0.65070	2.089000	0.63090	0.600000	0.82982	GAC		0.627	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		T	153716442	C	T	153716442	3	4	79	1	0	0	0	0	1	0	0	0	14378	855	30	2	599	2	SLC10A3	23	153716442	Missense_Mutation	SNP	C	TCGA-13-0760-01A-01W-0372-09	8812095	153716442	1554118	184	4148											
KIF1B	23095	hgsc.bcm.edu	37	1	10386189	10386189	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr1:10386189G>T	ENST00000377086.1	+	27	2898	c.2696G>T	c.(2695-2697)tGt>tTt	p.C899F	KIF1B_ENST00000377081.1_Missense_Mutation_p.C899F|KIF1B_ENST00000263934.6_Missense_Mutation_p.C853F			O60333	KIF1B_HUMAN	kinesin family member 1B	899					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.C853F(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTCCACGGCTGTGTGAACGAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											160	156	158					1																	10386189		2203	4300	6503	10308776	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2696G>T	1.37:g.10386189G>T	ENSP00000366290:p.Cys899Phe		10308776	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.199843	0.79015	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74632	-0.8;-0.86;-0.86	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	N	0.08118	0	0.80722	D	1	P;P;D;D;D;D	0.71674	0.754;0.706;0.995;0.998;0.98;0.988	B;B;D;D;D;D	0.79784	0.313;0.216;0.986;0.993;0.962;0.983	T	0.78404	-0.2217	10	0.40728	T	0.16	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	885;859;899;873;899;853	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	F	899;853;899;899	ENSP00000263934:C853F;ENSP00000366290:C899F;ENSP00000366284:C899F	ENSP00000263934:C853F	C	+	2	0	KIF1B	10308776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.720000	0.93068	0.650000	0.86243	TGT		0.547	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10386189	G	T	10386189	3	4	80	1	0	0	0	0	1	0	0	0	8284	1377	48	3	4141	3	KIF1B	1	10386189	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10		10386189	238864432	1	4149											
SPEN	23013	hgsc.bcm.edu	37	1	16254640	16254640	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr1:16254640T>G	ENST00000375759.3	+	11	2109	c.1905T>G	c.(1903-1905)agT>agG	p.S635R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	635	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S635R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATTATGAGAGTGTTCGAACTC	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											85	86	86					1																	16254640		2203	4300	6503	16127227	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1905T>G	1.37:g.16254640T>G	ENSP00000364912:p.Ser635Arg		16127227	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.408539	0.25378	.	.	ENSG00000065526	ENST00000375759	T	0.07688	3.17	4.54	2.23	0.28157	.	.	.	.	.	T	0.04952	0.0133	N	0.14661	0.345	0.21290	N	0.999733	B	0.23735	0.09	B	0.19148	0.024	T	0.38457	-0.9660	9	0.56958	D	0.05	-10.4171	5.9124	0.19035	0.0:0.1525:0.1393:0.7082	.	635	Q96T58	MINT_HUMAN	R	635	ENSP00000364912:S635R	ENSP00000364912:S635R	S	+	3	2	SPEN	16127227	1.000000	0.71417	0.990000	0.47175	0.953000	0.61014	0.840000	0.27600	0.370000	0.24538	0.460000	0.39030	AGT		0.428	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		G	16254640	T	G	16254640	3	3	80	1	0	0	0	0	1	0	0	0	15040	1693	59	5	1947	5	SPEN	1	16254640	Missense_Mutation	SNP	T	TCGA-13-0761-01A-01W-0370-10	5868451	16254640	232995981	2	4150											
IVNS1ABP	10625	hgsc.bcm.edu	37	1	185277998	185277998	+	Silent	SNP	T	T	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr1:185277998T>A	ENST00000367498.3	-	5	913	c.291A>T	c.(289-291)gcA>gcT	p.A97A	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Silent_p.A97A|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	97	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.A97A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATTCCTTATCTGCTTTCAACC	0.294																																																1	Substitution - coding silent(1)	ovary(1)	1											129	123	125					1																	185277998		2202	4298	6500	183544621	SO:0001819	synonymous_variant	10625			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.291A>T	1.37:g.185277998T>A			183544621	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Silent	SNP	ENST00000367498.3	37	CCDS1368.1																																																																																				0.294	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		A	185277998	T	A	185277998	2	1	80	1	0	0	0	0	0	0	0	1	7930	1567	55	5		5	IVNS1ABP	1	185277998	Silent	SNP	T	TCGA-13-0761-01A-01W-0370-10	169023358	185277998	63972623	3	4151											
CDC42BPA	8476	hgsc.bcm.edu	37	1	227182581	227182581	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr1:227182581C>G	ENST00000366769.3	-	35	6262	c.4971G>C	c.(4969-4971)ttG>ttC	p.L1657F	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L1576F|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L1692F|RP5-1087E8.3_ENST00000433837.1_RNA|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L1637F|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L1719F|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L1629F|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L1670F	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.L1576F(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCCAGAGGACAAAGAGCCCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											93	92	93					1																	227182581		2203	4300	6503	225249204	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4971G>C	1.37:g.227182581C>G	ENSP00000355731:p.Leu1657Phe		225249204		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.73|18.73	3.687242|3.687242	0.68157|0.68157	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054	T;T;T;T;T;T;T|.	0.69685|.	-0.29;-0.29;-0.42;-0.29;-0.33;-0.3;-0.27|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.275257|.	0.31648|.	N|.	0.007297|.	T|T	0.63570|0.63570	0.2522|0.2522	L|L	0.53249|0.53249	1.67|1.67	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D|.	0.91635|.	0.998;0.997;0.999;0.997;0.997;0.998|.	T|T	0.61676|0.61676	-0.7014|-0.7014	10|5	0.25751|.	T|.	0.34|.	.|.	13.6073|13.6073	0.62054|0.62054	0.0:0.923:0.0:0.077|0.0:0.923:0.0:0.077	.|.	1637;1629;1576;1657;1692;921|.	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.|.	F|L	1657;1576;1719;1692;1629;1637;1670|922;986	ENSP00000355731:L1657F;ENSP00000355729:L1576F;ENSP00000335341:L1719F;ENSP00000355728:L1692F;ENSP00000355726:L1629F;ENSP00000443275:L1637F;ENSP00000355727:L1670F|.	ENSP00000335341:L1719F|.	L|V	-|-	3|1	2|0	CDC42BPA|CDC42BPA	225249204|225249204	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.629000|0.629000	0.37895|0.37895	1.684000|1.684000	0.37649|0.37649	2.297000|2.297000	0.77311|0.77311	0.556000|0.556000	0.70494|0.70494	TTG|GTC		0.577	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		G	227182581	C	G	227182581	3	3	80	1	0	0	0	0	1	0	0	0	3072	477	17	3	196	3	CDC42BPA	1	227182581	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	41904583	227182581	22068040	4	4152											
DCTN1	1639	hgsc.bcm.edu	37	2	74594894	74594894	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr2:74594894G>C	ENST00000361874.3	-	18	2430	c.2113C>G	c.(2113-2115)Ctg>Gtg	p.L705V	DCTN1_ENST00000394003.3_Missense_Mutation_p.L698V|DCTN1_ENST00000409240.1_Missense_Mutation_p.L668V|DCTN1_ENST00000407639.2_Missense_Mutation_p.L571V|DCTN1_ENST00000409868.1_Missense_Mutation_p.L688V|DCTN1_ENST00000409567.3_Missense_Mutation_p.L685V|DCTN1_ENST00000409438.1_Missense_Mutation_p.L571V|DCTN1_ENST00000495643.1_5'UTR	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	705					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.L705V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTGTGCAGCAGTTCAATGAGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											94	86	89					2																	74594894		2203	4300	6503	74448402	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2113C>G	2.37:g.74594894G>C	ENSP00000354791:p.Leu705Val		74448402	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109351	0.56398	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.64	3.85	0.44370	.	0.000000	0.34411	N	0.003981	D	0.92756	0.7697	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.996;1.0;0.996	D;D;D;D;D;D	0.87578	0.997;0.998;0.987;0.979;0.987;0.978	D	0.91528	0.5240	10	0.42905	T	0.14	-6.1686	11.3771	0.49735	0.1498:0.0:0.8502:0.0	.	685;668;705;698;571;571	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	V	705;698;688;571;571;668;688;685	ENSP00000354791:L705V;ENSP00000377571:L698V;ENSP00000384844:L571V;ENSP00000387270:L571V;ENSP00000386406:L668V;ENSP00000387327:L688V;ENSP00000386843:L685V	ENSP00000354791:L705V	L	-	1	2	DCTN1	74448402	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.696000	0.74598	0.736000	0.32559	0.561000	0.74099	CTG		0.522	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		C	74594894	G	C	74594894	3	2	80	1	0	0	0	0	1	0	0	0	4306	1020	36	3	1783	3	DCTN1	2	74594894	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10		74594894	168604479	5	4153											
CNGA3	1261	hgsc.bcm.edu	37	2	99013534	99013534	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr2:99013534G>T	ENST00000272602.2	+	7	1940	c.1901G>T	c.(1900-1902)gGg>gTg	p.G634V	CNGA3_ENST00000393504.1_Missense_Mutation_p.G634V|CNGA3_ENST00000409937.1_Missense_Mutation_p.G638V|CNGA3_ENST00000436404.2_Missense_Mutation_p.G616V			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	634					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.G634V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAGCAGCTGGGGTCCTCCCTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											40	37	38					2																	99013534		2203	4300	6503	98379966	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1901G>T	2.37:g.99013534G>T	ENSP00000272602:p.Gly634Val		98379966	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648741	0.29336	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97480	-4.29;-4.2;-4.29;-4.4	5.42	4.28	0.50868	.	0.153629	0.56097	D	0.000025	D	0.93015	0.7777	L	0.29908	0.895	0.51767	D	0.999938	B;B;B	0.25743	0.133;0.044;0.019	B;B;B	0.23275	0.045;0.028;0.028	D	0.89780	0.3960	10	0.48119	T	0.1	.	9.8193	0.40871	0.9166:0.0:0.0834:0.0	.	638;616;634	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	V	634;616;634;638	ENSP00000377140:G634V;ENSP00000410070:G616V;ENSP00000272602:G634V;ENSP00000386761:G638V	ENSP00000272602:G634V	G	+	2	0	CNGA3	98379966	0.998000	0.40836	1.000000	0.80357	0.776000	0.43924	3.217000	0.51184	1.087000	0.41251	-0.471000	0.05019	GGG		0.597	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		T	99013534	G	T	99013534	3	4	80	1	0	0	0	0	1	0	0	0	3598	1232	43	3	1927	3	CNGA3	2	99013534	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10	24418640	99013534	144185839	6	4154											
INPP5D	3635	hgsc.bcm.edu	37	2	233925286	233925286	+	Missense_Mutation	SNP	G	G	C	rs62194575		TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr2:233925286G>C	ENST00000359570.5	+	1	98	c.98G>C	c.(97-99)aGc>aCc	p.S33T	INPP5D_ENST00000538935.1_Missense_Mutation_p.S33T			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	33	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.S33T(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTGCGTGCCAGCGAGTCCATC	0.637																																					NSCLC(82;1215 1426 16163 20348 41018)											1	Substitution - Missense(1)	ovary(1)	2											42	48	46					2																	233925286		2093	4215	6308	233633530	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.98G>C	2.37:g.233925286G>C	ENSP00000352575:p.Ser33Thr		233633530	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.074252	0.76415	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	4.68	4.68	0.58851	SH2 motif (5);	0.043948	0.85682	D	0.000000	D	0.97315	0.9122	.	.	.	0.43313	D	0.995322	D;D	0.60160	0.984;0.987	D;D	0.77557	0.984;0.99	D	0.98152	1.0442	9	0.72032	D	0.01	.	17.6467	0.88150	0.0:0.0:1.0:0.0	.	33;33	Q92835-2;Q92835	.;SHIP1_HUMAN	T	33	ENSP00000409018:S33T;ENSP00000415253:S33T;ENSP00000352575:S33T;ENSP00000441010:S33T	ENSP00000352575:S33T	S	+	2	0	INPP5D	233633530	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.017000	0.93651	2.175000	0.68902	0.485000	0.47835	AGC		0.637	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		C	233925286	G	C	233925286	3	2	80	1	0	0	0	0	1	0	0	0	7756	971	34	3	100	3	INPP5D	2	233925286	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10	134911752	233925286	9274087	7	4155											
LHFPL4	375323	hgsc.bcm.edu	37	3	9543917	9543917	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr3:9543917A>T	ENST00000287585.6	-	4	1007	c.722T>A	c.(721-723)gTg>gAg	p.V241E	RP11-58B17.2_ENST00000602693.1_lincRNA	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	0						integral component of membrane (GO:0016021)		p.V241E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					TGAGTGAGCCACGGGGCAGGG	0.577																																																1	Substitution - Missense(1)	ovary(1)	3											53	49	51					3																	9543917		2203	4300	6503	9518917	SO:0001583	missense	375323			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.722T>A	3.37:g.9543917A>T	ENSP00000287585:p.Val241Glu		9518917	A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869581	0.33069	.	.	ENSG00000156959	ENST00000287585	T	0.74209	-0.82	4.3	3.15	0.36227	.	1.317330	0.05647	N	0.584436	T	0.51787	0.1695	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.28784	0.094	T	0.50180	-0.8858	10	0.66056	D	0.02	-25.0576	6.3505	0.21373	0.8888:0.0:0.1112:0.0	.	241	Q7Z7J7	LHPL4_HUMAN	E	241	ENSP00000287585:V241E	ENSP00000287585:V241E	V	-	2	0	LHFPL4	9518917	0.729000	0.28090	0.101000	0.21167	0.977000	0.68977	4.472000	0.60189	0.714000	0.32081	-0.376000	0.06991	GTG		0.577	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560		T	9543917	A	T	9543917	3	4	80	1	0	0	0	0	1	0	0	0	8767	159	6	5	25	5	LHFPL4	3	9543917	Missense_Mutation	SNP	A	TCGA-13-0761-01A-01W-0370-10		9543917	188478513	8	4156											
DYNC1LI1	51143	hgsc.bcm.edu	37	3	32570047	32570047	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr3:32570047C>G	ENST00000273130.4	-	12	1456	c.1353G>C	c.(1351-1353)ttG>ttC	p.L451F	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.L335F	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	451					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.L451F(1)		kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTTTACTCAACAAACTGTTGA	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											72	72	72					3																	32570047		2203	4300	6503	32545051	SO:0001583	missense	51143			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1353G>C	3.37:g.32570047C>G	ENSP00000273130:p.Leu451Phe		32545051	A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674602	0.67928	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.37584	1.19;1.19	5.76	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.85859	2.78	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.68652	-0.5352	10	0.87932	D	0	-8.4554	11.9312	0.52847	0.0:0.8113:0.1219:0.0668	.	335;451	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	F	451;335	ENSP00000273130:L451F;ENSP00000407279:L335F	ENSP00000273130:L451F	L	-	3	2	DYNC1LI1	32545051	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.261000	0.32980	1.447000	0.47661	-0.224000	0.12420	TTG		0.453	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		G	32570047	C	G	32570047	3	3	80	1	0	0	0	0	1	0	0	0	4844	477	17	3	226	3	DYNC1LI1	3	32570047	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	23026130	32570047	165452383	9	4157											
SIAH2	6478	hgsc.bcm.edu	37	3	150460047	150460047	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr3:150460047C>T	ENST00000312960.3	-	2	1383	c.856G>A	c.(856-858)Ggt>Agt	p.G286S		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	286	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G286S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCAGCCACACCGTCATGAATC	0.527																																																1	Substitution - Missense(1)	ovary(1)	3											90	74	80					3																	150460047		2203	4300	6503	151942737	SO:0001583	missense	6478			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"seven in absentia (Drosophila) homolog 2", "seven in absentia homolog 2 (Drosophila)"			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.856G>A	3.37:g.150460047C>T	ENSP00000322457:p.Gly286Ser		151942737	O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529817	0.64860	.	.	ENSG00000181788	ENST00000312960	T	0.24723	1.84	5.81	4.94	0.65067	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	L	0.35793	1.09	0.80722	D	1	D	0.54601	0.967	P	0.47402	0.546	T	0.03025	-1.1081	10	0.05620	T	0.96	.	14.874	0.70481	0.0:0.9315:0.0:0.0685	.	286	O43255	SIAH2_HUMAN	S	286	ENSP00000322457:G286S	ENSP00000322457:G286S	G	-	1	0	SIAH2	151942737	1.000000	0.71417	0.896000	0.35187	0.390000	0.30446	7.802000	0.85969	1.468000	0.48064	-0.229000	0.12294	GGT		0.527	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		T	150460047	C	T	150460047	3	4	80	1	0	0	0	0	1	0	0	0	14303	652	23	1	122	1	SIAH2	3	150460047	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	117890000	150460047	47562383	10	4158											
TNK2	10188	hgsc.bcm.edu	37	3	195611842	195611842	+	Silent	SNP	C	C	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr3:195611842C>T	ENST00000333602.6	-	4	914	c.297G>A	c.(295-297)cgG>cgA	p.R99R	TNK2_ENST00000316664.3_Silent_p.R99R|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000428187.1_Silent_p.R131R|TNK2_ENST00000392400.1_Silent_p.R99R|TNK2_ENST00000381916.2_Silent_p.R162R	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	99	SAM-like domain.		R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation; undergoes autoactivation and causes phosphorylation on Tyr-284 leading to activation of AKT1). {ECO:0000269|PubMed:17344846}.|R -> W (in dbSNP:rs3747673). {ECO:0000269|PubMed:17344846}.		cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.R99R(1)|p.R162R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCGAGGTCTTCCGGAAGGTGC	0.642																																																2	Substitution - coding silent(2)	ovary(2)	3											45	45	45					3																	195611842		2203	4300	6503	197096239	SO:0001819	synonymous_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.297G>A	3.37:g.195611842C>T			197096239	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1																																																																																				0.642	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		T	195611842	C	T	195611842	2	4	80	1	0	0	0	0	0	0	0	1	16318	842	30	2		2	TNK2	3	195611842	Silent	SNP	C	TCGA-13-0761-01A-01W-0370-10	45151795	195611842	2410588	11	4159											
ART3	419	hgsc.bcm.edu	37	4	77003471	77003471	+	Silent	SNP	A	A	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr4:77003471A>T	ENST00000355810.4	+	3	683	c.564A>T	c.(562-564)tcA>tcT	p.S188S	ART3_ENST00000349321.3_Silent_p.S188S|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Silent_p.S188S	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	188					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S188S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGCATATTCAGCCAAACCTC	0.418																																																1	Substitution - coding silent(1)	ovary(1)	4											44	42	43					4																	77003471		2203	4300	6503	77222495	SO:0001819	synonymous_variant	419			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.564A>T	4.37:g.77003471A>T			77222495	Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	ENST00000355810.4	37	CCDS47079.1																																																																																				0.418	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		T	77003471	A	T	77003471	2	4	80	1	0	0	0	0	0	0	0	1	998	175	7	5		5	ART3	4	77003471	Silent	SNP	A	TCGA-13-0761-01A-01W-0370-10		77003471	114150805	12	4160											
SERPINB1	1992	hgsc.bcm.edu	37	6	2836140	2836140	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr6:2836140C>T	ENST00000380739.5	-	6	887	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	SERPINB1_ENST00000476896.1_5'Flank|SERPINB1_ENST00000537185.1_Missense_Mutation_p.V78I	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	229					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V229I(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		AGCAGGATGACCATGCTGAGC	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											102	89	93					6																	2836140		2203	4300	6503	2781139	SO:0001583	missense	1992			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.685G>A	6.37:g.2836140C>T	ENSP00000370115:p.Val229Ile		2781139	A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	C	7.276	0.608209	0.14002	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	D;D	0.84442	-1.85;-1.85	5.36	-7.22	0.01485	Serpin domain (3);	0.535990	0.20811	N	0.085246	T	0.38692	0.1050	L	0.28115	0.83	0.27856	N	0.940581	B	0.09022	0.002	B	0.16289	0.015	T	0.53802	-0.8387	10	0.06365	T	0.9	.	3.4533	0.07506	0.0868:0.2171:0.3591:0.337	.	229	P30740	ILEU_HUMAN	I	229;191;78	ENSP00000370115:V229I;ENSP00000444543:V78I	ENSP00000370115:V229I	V	-	1	0	SERPINB1	2781139	0.008000	0.16893	0.038000	0.18304	0.518000	0.34316	-1.121000	0.03270	-1.616000	0.01572	-0.867000	0.03001	GTC		0.507	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			T	2836140	C	T	2836140	3	4	80	1	0	0	0	0	1	0	0	0	14099	507	18	2	462	2	SERPINB1	6	2836140	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10		2836140	168278927	13	4161											
DTNBP1	84062	hgsc.bcm.edu	37	6	15652350	15652350	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr6:15652350C>A	ENST00000344537.5	-	2	250	c.78G>T	c.(76-78)aaG>aaT	p.K26N	DTNBP1_ENST00000355917.3_Missense_Mutation_p.K26N|DTNBP1_ENST00000338950.5_Missense_Mutation_p.K26N	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	26					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)		p.K26N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CTTCTCTTGACTTGTCACTTA	0.299									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	ovary(1)	6											97	86	90					6																	15652350		2202	4299	6501	15760329	SO:0001583	missense	84062	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.78G>T	6.37:g.15652350C>A	ENSP00000341680:p.Lys26Asn		15760329	A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371945	0.61624	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000338950;ENST00000543749	T;T;T	0.36340	1.26;1.26;1.3	5.53	1.78	0.24846	.	0.000000	0.64402	D	0.000016	T	0.43875	0.1267	M	0.78916	2.43	0.41117	D	0.985786	D;D;P	0.89917	1.0;1.0;0.473	D;D;B	0.91635	0.993;0.999;0.24	T	0.42155	-0.9468	10	0.56958	D	0.05	-13.0534	7.9347	0.29923	0.0:0.5872:0.0:0.4128	.	26;26;26	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	N	26	ENSP00000341680:K26N;ENSP00000348183:K26N;ENSP00000344718:K26N	ENSP00000344718:K26N	K	-	3	2	DTNBP1	15760329	0.995000	0.38212	0.997000	0.53966	0.989000	0.77384	0.012000	0.13287	0.114000	0.18032	0.479000	0.44913	AAG		0.299	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		A	15652350	C	A	15652350	3	1	80	1	0	0	0	0	1	0	0	0	4790	564	20	3	1114	3	DTNBP1	6	15652350	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	12816210	15652350	155462717	14	4162											
KIF6	221458	hgsc.bcm.edu	37	6	39563851	39563851	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr6:39563851C>A	ENST00000287152.7	-	7	919	c.825G>T	c.(823-825)ttG>ttT	p.L275F	KIF6_ENST00000373216.3_Missense_Mutation_p.L275F|KIF6_ENST00000538893.1_Missense_Mutation_p.L275F|KIF6_ENST00000373213.4_Missense_Mutation_p.L114F|KIF6_ENST00000373215.3_Missense_Mutation_p.L275F	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	275	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L275F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AATGTAGTGACAAGTTGATAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	6											100	93	95					6																	39563851		2203	4300	6503	39671829	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.825G>T	6.37:g.39563851C>A	ENSP00000287152:p.Leu275Phe		39671829	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.05|18.05	3.536796|3.536796	0.65085|0.65085	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000458470|ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211	.|T;T;T;T;T;T	.|0.75260	.|-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.98|5.98	5.04|5.04	0.67666|0.67666	.|Kinesin, motor domain (4);	.|.	.|.	.|.	.|.	D|D	0.85622|0.85622	0.5739|0.5739	M|M	0.91872|0.91872	3.25|3.25	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.81914	.|0.995;0.986;0.994;0.995	D|D	0.87367|0.87367	0.2348|0.2348	5|9	.|0.87932	.|D	.|0	.|.	10.482|10.482	0.44700|0.44700	0.1452:0.7783:0.0:0.0764|0.1452:0.7783:0.0:0.0764	.|.	.|275;275;275;275	.|E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.|.;.;.;KIF6_HUMAN	F|F	167|275;275;114;275;275;62;66	.|ENSP00000287152:L275F;ENSP00000362312:L275F;ENSP00000362309:L114F;ENSP00000362311:L275F;ENSP00000441435:L275F;ENSP00000404856:L62F	.|ENSP00000287152:L275F	C|L	-|-	2|3	0|2	KIF6|KIF6	39671829|39671829	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	0.683000|0.683000	0.25349|0.25349	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	TGT|TTG		0.433	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		A	39563851	C	A	39563851	3	1	80	1	0	0	0	0	1	0	0	0	8308	477	17	3	1687	3	KIF6	6	39563851	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	23911501	39563851	131551216	15	4163											
SCIN	85477	hgsc.bcm.edu	37	7	12691521	12691521	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr7:12691521A>C	ENST00000297029.5	+	15	2116	c.2015A>C	c.(2014-2016)aAg>aCg	p.K672T	SCIN_ENST00000519209.1_Missense_Mutation_p.K425T|SCIN_ENST00000445618.2_Missense_Mutation_p.K425T|AC011891.5_ENST00000437088.1_lincRNA	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	672	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K672T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAATCTCTGAAGTCTGGTAAG	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											125	114	118					7																	12691521		1852	4098	5950	12658046	SO:0001583	missense	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.2015A>C	7.37:g.12691521A>C	ENSP00000297029:p.Lys672Thr		12658046	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833667	0.32421	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.54071	0.59;0.59;0.59	5.74	5.74	0.90152	Gelsolin domain (1);	0.047430	0.85682	D	0.000000	T	0.64450	0.2599	L	0.55481	1.735	0.80722	D	1	D	0.55605	0.972	D	0.65987	0.94	T	0.58912	-0.7552	10	0.11182	T	0.66	-26.9178	16.0395	0.80654	1.0:0.0:0.0:0.0	.	672	Q9Y6U3	ADSV_HUMAN	T	672;425;425	ENSP00000297029:K672T;ENSP00000430997:K425T;ENSP00000390189:K425T	ENSP00000297029:K672T	K	+	2	0	SCIN	12658046	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.602000	0.74141	2.188000	0.69820	0.533000	0.62120	AAG		0.373	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		C	12691521	A	C	12691521	3	2	80	1	0	0	0	0	1	0	0	0	13908	72	3	5	2073	5	SCIN	7	12691521	Missense_Mutation	SNP	A	TCGA-13-0761-01A-01W-0370-10		12691521	146447142	16	4164											
GPNMB	10457	hgsc.bcm.edu	37	7	23296646	23296646	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr7:23296646G>C	ENST00000381990.2	+	4	664	c.503G>C	c.(502-504)tGg>tCg	p.W168S	GPNMB_ENST00000258733.4_Missense_Mutation_p.W168S|GPNMB_ENST00000409458.3_Missense_Mutation_p.W168S|GPNMB_ENST00000539136.1_Missense_Mutation_p.W69S|GPNMB_ENST00000453162.2_Intron	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	168					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.W168S(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CACCCCGGATGGAGAAGATGG	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											124	115	118					7																	23296646		2203	4300	6503	23263171	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.503G>C	7.37:g.23296646G>C	ENSP00000371420:p.Trp168Ser		23263171	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966330	0.74131	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.68	4.68	0.58851	.	0.264822	0.33959	N	0.004386	T	0.33818	0.0876	L	0.56199	1.76	0.80722	D	1	P;P;P;P	0.50443	0.673;0.544;0.919;0.935	B;B;P;P	0.53689	0.225;0.113;0.59;0.732	T	0.02844	-1.1103	10	0.23891	T	0.37	0.0057	17.9413	0.89027	0.0:0.0:1.0:0.0	.	69;168;168;168	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	S	168;203;168;168;69	ENSP00000258733:W168S;ENSP00000371420:W168S;ENSP00000386476:W168S;ENSP00000445266:W69S	ENSP00000258733:W168S	W	+	2	0	GPNMB	23263171	1.000000	0.71417	0.060000	0.19600	0.553000	0.35397	8.172000	0.89677	2.306000	0.77630	0.561000	0.74099	TGG		0.468	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		C	23296646	G	C	23296646	3	2	80	1	0	0	0	0	1	0	0	0	6620	1357	47	3	517	3	GPNMB	7	23296646	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10	10605125	23296646	135842017	17	4165											
MET	4233	hgsc.bcm.edu	37	7	116436143	116436143	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr7:116436143G>A	ENST00000318493.6	+	21	4379	c.4192G>A	c.(4192-4194)Gac>Aac	p.D1398N	MET_ENST00000539704.1_Missense_Mutation_p.D250N|MET_ENST00000397752.3_Missense_Mutation_p.D1380N			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D1398N(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGATGAGGTGGACACACGACC	0.458			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	ovary(1)	7											196	180	185					7																	116436143		2019	4196	6215	116223379	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4192G>A	7.37:g.116436143G>A	ENSP00000317272:p.Asp1398Asn		116223379	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278598	0.59758	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.77358	-0.79;-0.81;-1.09	4.43	3.53	0.40419	.	0.231206	0.52532	N	0.000078	T	0.65502	0.2697	N	0.25890	0.77	0.34616	D	0.71809	B;B	0.19445	0.036;0.009	B;B	0.21917	0.037;0.006	T	0.66787	-0.5835	10	0.41790	T	0.15	.	11.4117	0.49929	0.0908:0.0:0.9092:0.0	.	1398;1380	P08581-2;P08581	.;MET_HUMAN	N	1380;1398;250	ENSP00000380860:D1380N;ENSP00000317272:D1398N;ENSP00000445020:D250N	ENSP00000317272:D1398N	D	+	1	0	MET	116223379	1.000000	0.71417	0.984000	0.44739	0.597000	0.36814	2.979000	0.49313	0.800000	0.34041	0.655000	0.94253	GAC		0.458	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116436143	G	A	116436143	3	1	80	1	0	0	0	0	1	0	0	0	9485	1174	41	2	4270	2	MET	7	116436143	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10	93139497	116436143	42702520	18	4166											
MEST	4232	hgsc.bcm.edu	37	7	130138109	130138109	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr7:130138109C>T	ENST00000223215.4	+	5	690	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	MEST_ENST00000341441.5_Missense_Mutation_p.L148F|MEST_ENST00000378576.4_Missense_Mutation_p.L148F|MIR335_ENST00000362173.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.L148F|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.L157F|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000416162.2_Missense_Mutation_p.L148F	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	157					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.L157F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TCAGGAGCTTCTCTACAGGTC	0.483																																					Colon(126;2182 2305 6517 35181)											1	Substitution - Missense(1)	ovary(1)	7											89	91	90					7																	130138109		2203	4300	6503	129925345	SO:0001583	missense	4232				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.469C>T	7.37:g.130138109C>T	ENSP00000223215:p.Leu157Phe		129925345	B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117307	0.77323	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000433159;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945;ENST00000458161	T;T;T;T;T;T;T;T;T	0.04119	3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7	5.33	3.51	0.40186	.	0.192170	0.46442	D	0.000291	T	0.22820	0.0551	M	0.88105	2.93	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.995;0.982;0.969;0.977	T	0.00759	-1.1578	10	0.72032	D	0.01	-14.0304	9.7076	0.40225	0.1407:0.7856:0.0:0.0737	.	143;157;157;148	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	F	148;148;148;148;148;148;148;157;157;148	ENSP00000342749:L148F;ENSP00000409505:L148F;ENSP00000408933:L148F;ENSP00000367839:L148F;ENSP00000409768:L148F;ENSP00000376884:L148F;ENSP00000407222:L148F;ENSP00000223215:L157F;ENSP00000401657:L157F	ENSP00000223215:L157F	L	+	1	0	MEST	129925345	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.435000	0.59941	0.730000	0.32425	-0.314000	0.08810	CTC		0.483	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		T	130138109	C	T	130138109	3	4	80	1	0	0	0	0	1	0	0	0	9484	913	32	2	487	2	MEST	7	130138109	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	13701966	130138109	29000554	19	4167											
C8orf80	389643	hgsc.bcm.edu	37	8	27886902	27886902	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr8:27886902C>T	ENST00000413272.2	-	17	2177	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S	NUGGC_ENST00000341513.6_Missense_Mutation_p.G679S	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	679					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G679S(1)									GCTTTTTTGCCCGTGATCTGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	8											54	54	54					8																	27886902		1992	4171	6163	27942821	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2035G>A	8.37:g.27886902C>T	ENSP00000408697:p.Gly679Ser		27942821	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990910	0.74703	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.77358	-1.09;-1.09	5.56	4.67	0.58626	.	0.057047	0.64402	D	0.000001	T	0.79604	0.4474	L	0.34521	1.04	0.42923	D	0.994297	D	0.65815	0.995	P	0.61275	0.886	T	0.81609	-0.0855	10	0.87932	D	0	-10.8869	11.699	0.51560	0.177:0.823:0.0:0.0	.	679	Q68CJ6	SLIP_HUMAN	S	679	ENSP00000408697:G679S;ENSP00000345031:G679S	ENSP00000345031:G679S	G	-	1	0	C8orf80	27942821	0.992000	0.36948	0.984000	0.44739	0.707000	0.40811	4.258000	0.58822	1.316000	0.45131	0.655000	0.94253	GGC		0.542	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		T	27886902	C	T	27886902	3	4	80	1	0	0	0	0	1	0	0	0	2439	623	22	2	367	2	C8orf80	8	27886902	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10		27886902	118477120	20	4168											
SNX16	64089	hgsc.bcm.edu	37	8	82736049	82736049	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr8:82736049C>G	ENST00000345957.4	-	4	867	c.589G>C	c.(589-591)Gct>Cct	p.A197P	SNX16_ENST00000353788.4_Missense_Mutation_p.A168P|SNX16_ENST00000396330.2_Missense_Mutation_p.A197P	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	197	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.A197P(1)		large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						TCCTTGTGAGCTACTAAATTT	0.318																																																1	Substitution - Missense(1)	ovary(1)	8											114	114	114					8																	82736049		2203	4300	6503	82898604	SO:0001583	missense	64089			AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"Sorting nexins"	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.589G>C	8.37:g.82736049C>G	ENSP00000322652:p.Ala197Pro		82898604	A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	ENST00000345957.4	37	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204700	0.95033	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957;ENST00000523757;ENST00000521810	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.87	5.87	0.94306	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.79258	2.445	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.68483	0.958;0.956	T	0.65282	-0.6206	10	0.45353	T	0.12	-19.0209	20.2192	0.98319	0.0:1.0:0.0:0.0	.	168;197	Q658L0;P57768	.;SNX16_HUMAN	P	168;197;197;168;197	ENSP00000322631:A168P;ENSP00000379621:A197P;ENSP00000322652:A197P;ENSP00000430038:A168P;ENSP00000428734:A197P	ENSP00000322652:A197P	A	-	1	0	SNX16	82898604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.780000	0.95670	0.655000	0.94253	GCT		0.318	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		G	82736049	C	G	82736049	3	3	80	1	0	0	0	0	1	0	0	0	14890	797	28	3	465	3	SNX16	8	82736049	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	54849147	82736049	63627973	21	4169											
ASTN2	23245	hgsc.bcm.edu	37	9	119739038	119739038	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr9:119739038C>T	ENST00000313400.4	-	8	1718	c.1618G>A	c.(1618-1620)Gcc>Acc	p.A540T	ASTN2_ENST00000361209.2_Missense_Mutation_p.A489T|ASTN2_ENST00000373996.3_Missense_Mutation_p.A540T|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	540	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.A489T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGGTCAGGGGCATAGCCTTCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	9											106	85	92					9																	119739038		2203	4300	6503	118778859	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1618G>A	9.37:g.119739038C>T	ENSP00000314038:p.Ala540Thr		118778859	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	15.13	2.742578	0.49151	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.12039	2.91;2.91;2.72;2.92	6.02	5.12	0.69794	.	0.061008	0.64402	D	0.000002	T	0.08537	0.0212	N	0.14661	0.345	0.35556	D	0.804273	B;B;B	0.28933	0.228;0.011;0.202	B;B;B	0.33454	0.085;0.003;0.164	T	0.36261	-0.9755	9	.	.	.	-18.7658	8.9517	0.35792	0.2531:0.6791:0.0:0.0677	.	489;540;540	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	T	540;540;267;489	ENSP00000314038:A540T;ENSP00000363108:A540T;ENSP00000363098:A267T;ENSP00000354504:A489T	.	A	-	1	0	ASTN2	118778859	0.911000	0.30947	0.997000	0.53966	0.829000	0.46940	1.767000	0.38501	1.558000	0.49541	0.650000	0.86243	GCC		0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		T	119739038	C	T	119739038	3	4	80	1	0	0	0	0	1	0	0	0	1065	710	25	2	2697	2	ASTN2	9	119739038	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10		119739038	21474393	22	4170											
NOTCH1	4851	hgsc.bcm.edu	37	9	139390942	139390942	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr9:139390942G>C	ENST00000277541.6	-	34	7324	c.7249C>G	c.(7249-7251)Ccg>Gcg	p.P2417A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2417	Poly-Pro.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P2416fs*11(1)|p.P2418A(1)|p.P2417A(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAAGGTGCGGCTGTGGTGGT	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	3	Substitution - Missense(2)|Deletion - Frameshift(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	9											22	29	27					9																	139390942		2149	4257	6406	138510763	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7249C>G	9.37:g.139390942G>C	ENSP00000277541:p.Pro2417Ala		138510763	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	9.642	1.139146	0.21205	.	.	ENSG00000148400	ENST00000277541	T	0.81078	-1.45	5.18	4.25	0.50352	.	0.444772	0.18202	N	0.148487	T	0.65842	0.2730	N	0.14661	0.345	0.24957	N	0.99175	B	0.29481	0.245	B	0.30646	0.118	T	0.49716	-0.8910	10	0.11794	T	0.64	.	14.4746	0.67537	0.0:0.1485:0.8515:0.0	.	2417	P46531	NOTC1_HUMAN	A	2417	ENSP00000277541:P2417A	ENSP00000277541:P2417A	P	-	1	0	NOTCH1	138510763	1.000000	0.71417	0.980000	0.43619	0.297000	0.27493	4.511000	0.60462	1.272000	0.44329	0.558000	0.71614	CCG		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		C	139390942	G	C	139390942	3	2	80	1	0	0	0	0	1	0	0	0	10547	1203	42	3	422	3	NOTCH1	9	139390942	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10	19651904	139390942	1822489	23	4171											
FAM53B	9679	hgsc.bcm.edu	37	10	126370760	126370760	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr10:126370760G>C	ENST00000337318.3	-	4	533	c.322C>G	c.(322-324)Ccc>Gcc	p.P108A	FAM53B_ENST00000392754.3_Missense_Mutation_p.P108A|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.P108A	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	108								p.P108A(1)		cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TTGCTAGGGGGTGCTGAGGGG	0.612																																																1	Substitution - Missense(1)	ovary(1)	10											46	32	37					10																	126370760		2203	4300	6503	126360750	SO:0001583	missense	9679			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.322C>G	10.37:g.126370760G>C	ENSP00000338532:p.Pro108Ala		126360750	D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724820	0.89298	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.80653	-1.4;-1.4;-1.4	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90752	0.4658	10	0.72032	D	0.01	-8.4266	18.8173	0.92081	0.0:0.0:1.0:0.0	.	108;108;108	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	A	108	ENSP00000338532:P108A;ENSP00000376509:P108A;ENSP00000280780:P108A	ENSP00000280780:P108A	P	-	1	0	FAM53B	126360750	1.000000	0.71417	0.971000	0.41717	0.989000	0.77384	9.325000	0.96381	2.746000	0.94184	0.655000	0.94253	CCC		0.612	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		C	126370760	G	C	126370760	3	2	80	1	0	0	0	0	1	0	0	0	5580	1261	44	3	954	3	FAM53B	10	126370760	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10		126370760	9163987	24	4172											
PEX16	9409	hgsc.bcm.edu	37	11	45937074	45937074	+	Silent	SNP	G	G	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr11:45937074G>T	ENST00000378750.5	-	5	648	c.405C>A	c.(403-405)ctC>ctA	p.L135L	PEX16_ENST00000532681.1_Silent_p.L40L|PEX16_ENST00000241041.3_Silent_p.L135L|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	135					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)	p.L135L(1)		large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GTGAAGTCTGGAGGCCAGCCT	0.647																																																1	Substitution - coding silent(1)	ovary(1)	11											77	78	78					11																	45937074		2203	4299	6502	45893650	SO:0001819	synonymous_variant	9409			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.405C>A	11.37:g.45937074G>T			45893650	Q9BWB9	Silent	SNP	ENST00000378750.5	37	CCDS31472.1																																																																																				0.647	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		T	45937074	G	T	45937074	2	4	80	1	0	0	0	0	0	0	0	1	11743	1161	41	3		3	PEX16	11	45937074	Silent	SNP	G	TCGA-13-0761-01A-01W-0370-10		45937074	89069442	25	4173											
MADD	8567	hgsc.bcm.edu	37	11	47345815	47345815	+	Splice_Site	SNP	G	G	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr11:47345815G>T	ENST00000311027.5	+	32	4707		c.e32-1		MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000342922.4_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000405573.2_Splice_Site	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.?(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGTGCCACAGTGTCGGGAGC	0.587																																																1	Unknown(1)	ovary(1)	11											53	52	52					11																	47345815		2201	4298	6499	47302391	SO:0001630	splice_region_variant	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4543-1G>T	11.37:g.47345815G>T			47302391		Splice_Site	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454360	0.84209	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8881	0.96917	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MADD	47302391	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.465000	0.97660	2.708000	0.92522	0.555000	0.69702	.		0.587	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		Intron	T	47345815	G	T	47345815	5	4	80	1	0	0	0	0	0	0	1	0	9152	1043	36	3	4664	3	MADD	11	47345815	Splice_Site	SNP	G	TCGA-13-0761-01A-01W-0370-10	1408741	47345815	87660701	26	4174											
CD3E	916	hgsc.bcm.edu	37	11	118184469	118184469	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr11:118184469G>C	ENST00000361763.4	+	7	691	c.400G>C	c.(400-402)Gtc>Ctc	p.V134L	CD3E_ENST00000528600.1_Missense_Mutation_p.V128L	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	134					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)	p.V134L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGCCACAATTGTCATAGTGGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	11											102	89	93					11																	118184469		2200	4296	6496	117689679	SO:0001583	missense	916			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.400G>C	11.37:g.118184469G>C	ENSP00000354566:p.Val134Leu		117689679	A8K997	Missense_Mutation	SNP	ENST00000361763.4	37	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665558	0.29604	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T;T	0.21734	1.99;1.99	4.97	-3.09	0.05331	.	0.392395	0.28442	N	0.015335	T	0.15435	0.0372	L	0.42245	1.32	0.09310	N	1	B	0.19583	0.037	B	0.20767	0.031	T	0.20940	-1.0260	10	0.42905	T	0.14	.	11.2465	0.49000	0.4096:0.0:0.5904:0.0	.	134	P07766	CD3E_HUMAN	L	134;128	ENSP00000354566:V134L;ENSP00000433975:V128L	ENSP00000354566:V134L	V	+	1	0	CD3E	117689679	0.000000	0.05858	0.000000	0.03702	0.933000	0.57130	-0.582000	0.05814	-0.440000	0.07211	-0.339000	0.08088	GTC		0.542	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		C	118184469	G	C	118184469	3	2	80	1	0	0	0	0	1	0	0	0	3011	1377	48	3	422	3	CD3E	11	118184469	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10	70838654	118184469	16822047	27	4175											
GUCY2C	2984	hgsc.bcm.edu	37	12	14794029	14794029	+	Silent	SNP	A	A	G			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr12:14794029A>G	ENST00000261170.3	-	18	2191	c.2055T>C	c.(2053-2055)tgT>tgC	p.C685C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.C685C(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCCGGTCCCGACAGCTCAAAG	0.498																																																1	Substitution - coding silent(1)	ovary(1)	12											141	100	113					12																	14794029		2203	4300	6503	14685296	SO:0001819	synonymous_variant	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2055T>C	12.37:g.14794029A>G			14685296	B2RMY6	Silent	SNP	ENST00000261170.3	37	CCDS8664.1																																																																																				0.498	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			G	14794029	A	G	14794029	2	3	80	1	0	0	0	0	0	0	0	1	6896	273	10	4		4	GUCY2C	12	14794029	Silent	SNP	A	TCGA-13-0761-01A-01W-0370-10		14794029	119057866	28	4176											
KNTC1	9735	hgsc.bcm.edu	37	12	123047187	123047187	+	Silent	SNP	G	G	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr12:123047187G>A	ENST00000333479.7	+	20	1722	c.1545G>A	c.(1543-1545)gtG>gtA	p.V515V	KNTC1_ENST00000450485.2_Silent_p.V478V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	515					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.V515V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCTTCAGGTGCTAAGAGCTC	0.284																																																1	Substitution - coding silent(1)	ovary(1)	12											48	44	46					12																	123047187		1793	4069	5862	121613140	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1545G>A	12.37:g.123047187G>A			121613140	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																				0.284	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			A	123047187	G	A	123047187	2	1	80	1	0	0	0	0	0	0	0	1	8428	1306	46	2		2	KNTC1	12	123047187	Silent	SNP	G	TCGA-13-0761-01A-01W-0370-10	108253158	123047187	10804708	29	4177											
TFDP1	7027	hgsc.bcm.edu	37	13	114288852	114288852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr13:114288852G>T	ENST00000375370.5	+	8	834	c.622G>T	c.(622-624)Gaa>Taa	p.E208*	TFDP1_ENST00000544902.1_Nonsense_Mutation_p.E113*|TFDP1_ENST00000538138.1_Nonsense_Mutation_p.E113*	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	208	Dimerization. {ECO:0000255}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E208*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTTGAAGGTGGAAAGACAGAG	0.398										TSP Lung(29;0.18)																																						1	Substitution - Nonsense(1)	ovary(1)	13											135	143	140					13																	114288852		2203	4300	6503	113336853	SO:0001587	stop_gained	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.622G>T	13.37:g.114288852G>T	ENSP00000364519:p.Glu208*		113336853	B4DLQ9|Q5JSB4|Q8IZL5	Nonsense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614558	0.96649	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902;ENST00000408980	.	.	.	4.07	4.07	0.47477	.	0.104805	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.6316	0.85035	0.0:0.0:1.0:0.0	.	.	.	.	X	113;208;113;208	.	ENSP00000364519:E208X	E	+	1	0	TFDP1	113336853	1.000000	0.71417	0.996000	0.52242	0.733000	0.41908	8.833000	0.92089	1.994000	0.58287	0.491000	0.48974	GAA		0.398	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		T	114288852	G	T	114288852	4	4	80	1	0	0	0	0	0	1	0	0	15797	1175	41	3	648	3	TFDP1	13	114288852	Nonsense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10		114288852	881026	30	4178											
DYX1C1	161582	hgsc.bcm.edu	37	15	55724793	55724793	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr15:55724793T>A	ENST00000321149.3	-	9	1422	c.1055A>T	c.(1054-1056)gAa>gTa	p.E352V	DYX1C1_ENST00000457155.2_Intron|DYX1C1_ENST00000348518.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000380679.1_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	352					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)	p.E352V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CATCAATAATTCCAGTGCCTT	0.378																																																1	Substitution - Missense(1)	ovary(1)	15											78	72	74					15																	55724793		2193	4292	6485	53512085	SO:0001583	missense	161582				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.1055A>T	15.37:g.55724793T>A	ENSP00000323275:p.Glu352Val		53512085	Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.042415	0.75732	.	.	ENSG00000256061	ENST00000321149	T	0.62232	0.04	5.4	5.4	0.78164	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.133193	0.48286	U	0.000190	T	0.76779	0.4035	M	0.78285	2.405	0.80722	D	1	B	0.33583	0.418	P	0.51550	0.673	T	0.77699	-0.2490	10	0.52906	T	0.07	-22.5694	14.6656	0.68904	0.0:0.0:0.0:1.0	.	352	Q8WXU2	DYXC1_HUMAN	V	352	ENSP00000323275:E352V	ENSP00000323275:E352V	E	-	2	0	DYX1C1	53512085	1.000000	0.71417	0.974000	0.42286	0.843000	0.47879	4.114000	0.57858	2.079000	0.62486	0.524000	0.50904	GAA		0.378	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		A	55724793	T	A	55724793	3	1	80	1	0	0	0	0	1	0	0	0	4862	1783	62	5	318	5	DYX1C1	15	55724793	Missense_Mutation	SNP	T	TCGA-13-0761-01A-01W-0370-10		55724793	46806599	31	4179											
GEMIN4	50628	hgsc.bcm.edu	37	17	650077	650077	+	Silent	SNP	G	G	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr17:650077G>A	ENST00000319004.5	-	2	1324	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	GEMIN4_ENST00000576778.1_Silent_p.I391I|GEMIN4_ENST00000437269.1_3'UTR	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	402					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.I402I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGAAGCTGTGATATCCTCCA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	17											69	72	71					17																	650077		2056	4195	6251	596827	SO:0001819	synonymous_variant	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1206C>T	17.37:g.650077G>A			596827	Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	CCDS45559.1																																																																																				0.557	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		A	650077	G	A	650077	2	1	80	1	0	0	0	0	0	0	0	1	6330	1280	45	2		2	GEMIN4	17	650077	Silent	SNP	G	TCGA-13-0761-01A-01W-0370-10		650077	80545133	32	4180											
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	80	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	6927043	7577120	73618090	33	4181											
DNAH2	146754	hgsc.bcm.edu	37	17	7636416	7636416	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr17:7636416G>C	ENST00000572933.1	+	5	1871	c.411G>C	c.(409-411)caG>caC	p.Q137H	DNAH2_ENST00000082259.3_Missense_Mutation_p.Q137H|DNAH2_ENST00000389173.2_Missense_Mutation_p.Q137H|DNAH2_ENST00000570791.1_Missense_Mutation_p.Q137H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	137	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q137H(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAGAACCAGCTTGTCTACT	0.572																																																1	Substitution - Missense(1)	ovary(1)	17											80	73	75					17																	7636416		2203	4300	6503	7577141	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.411G>C	17.37:g.7636416G>C	ENSP00000458355:p.Gln137His		7577141	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227482	0.39399	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.42900	0.96;0.96	5.19	4.22	0.49857	.	1.524580	0.03772	N	0.259897	T	0.35508	0.0934	N	0.14661	0.345	0.39410	D	0.966745	B;P	0.40731	0.037;0.728	B;B	0.42522	0.005;0.39	T	0.05484	-1.0882	10	0.59425	D	0.04	.	9.8537	0.41073	0.1682:0.0:0.8318:0.0	.	137;137	Q9P225;Q9P225-3	DYH2_HUMAN;.	H	137	ENSP00000373825:Q137H;ENSP00000082259:Q137H	ENSP00000082259:Q137H	Q	+	3	2	DNAH2	7577141	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	2.636000	0.46545	1.324000	0.45282	0.655000	0.94253	CAG		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		C	7636416	G	C	7636416	3	2	80	1	0	0	0	0	1	0	0	0	4602	962	34	3	425	3	DNAH2	17	7636416	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10	59296	7636416	73558794	34	4182											
CYTSB	92521	hgsc.bcm.edu	37	17	20150560	20150560	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr17:20150560delT	ENST00000261503.5	+	9	2577	c.2526delT	c.(2524-2526)catfs	p.H842fs	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Frame_Shift_Del_p.H182fs|SPECC1_ENST00000395527.4_Frame_Shift_Del_p.H842fs|SPECC1_ENST00000395530.2_Frame_Shift_Del_p.H761fs	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	842					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.H842fs*8(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TTTCTGTCCATAAGACCCCCA	0.458																																																1	Deletion - Frameshift(1)	ovary(1)	17											48	51	50					17																	20150560		2203	4300	6503	20091152	SO:0001589	frameshift_variant	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2526delT	17.37:g.20150560delT	ENSP00000261503:p.His842fs		20091152	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Frame_Shift_Del	DEL	ENST00000261503.5	37	CCDS32590.1																																																																																				0.458	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		-	20150560	T	-	20150560	7	5	80	1	0	1	0	1	0	0	0	0	4210	1403	49	0	2626	0	CYTSB	17	20150560	Frame_Shift_Del	DEL	T	TCGA-13-0761-01A-01W-0370-10	12514144	20150560	61044650	35	4183											
TOP2A	7153	hgsc.bcm.edu	37	17	38569162	38569164	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr17:38569162_38569164delTCT	ENST00000423485.1	-	7	794_796	c.636_638delAGA	c.(634-639)gaagat>gat	p.E212del		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	212					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ACATGTATAATCTTCTCCATTGA	0.365																																																0			17																																								35822690	SO:0001651	inframe_deletion	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.636_638delAGA	17.37:g.38569165_38569167delTCT	ENSP00000411532:p.Glu212del		35822688	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	In_Frame_Del	DEL	ENST00000423485.1	37	CCDS45672.1																																																																																				0.365	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			-	38569164	TCT	-	38569162	7	5	80	1	0	1	0	1	0	0	0	0	16365	1435	50	0	4073	0	TOP2A	17	38569162	In_Frame_Del	DEL	TCT	TCGA-13-0761-01A-01W-0370-10	18418602	38569162	42626048	36	4184											
BRCA1	672	hgsc.bcm.edu	37	17	41228504	41228504	+	Splice_Site	DEL	C	C	-	rs80358063|rs397509181		TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr17:41228504delC	ENST00000357654.3	-	13	4603		c.e13+1		BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Splice_Site|BRCA1_ENST00000351666.3_Splice_Site|BRCA1_ENST00000491747.2_Splice_Site|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000352993.3_Splice_Site|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Splice_Site|BRCA1_ENST00000468300.1_Splice_Site|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Splice_Site|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset						androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGTTTCTTACCTTTCCACTC	0.358			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Unknown(1)	ovary(1)	17	GRCh37	CD004791|CS030979	BRCA1	D|S	rs80358063						119	109	113					17																	41228504		2202	4300	6502	38482030	SO:0001630	splice_region_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4484+1G>-	17.37:g.41228504delC			38482030	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Splice_Site	DEL	ENST00000357654.3	37	CCDS11453.1																																																																																				0.358	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	Intron	-	41228504	C	-	41228504	8	5	80	1	0	1	0	1	0	0	1	0	1498	521	18	0	1150	0	BRCA1	17	41228504	Splice_Site	DEL	C	TCGA-13-0761-01A-01W-0370-10	2659342	41228504	39966706	37	4185											
CHMP6	79643	hgsc.bcm.edu	37	17	78972931	78972931	+	Missense_Mutation	SNP	C	C	T	rs374101426		TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr17:78972931C>T	ENST00000325167.5	+	8	662	c.584C>T	c.(583-585)gCg>gTg	p.A195V	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	195					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)	p.A195V(1)		lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCAGGCAGGCGGAGCTGGTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	17						C	VAL/ALA	0,4406		0,0,2203	120	101	108		584	1.6	0.3	17		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHMP6	NM_024591.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	195/202	78972931	1,13005	2203	4300	6503	76587526	SO:0001583	missense	79643			BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"Charged multivesicular body proteins"	25675	protein-coding gene	gene with protein product		610901	"chromatin modifying protein 6"			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.584C>T	17.37:g.78972931C>T	ENSP00000317468:p.Ala195Val		76587526	A8K7U0|Q53FU4|Q9HAE8	Missense_Mutation	SNP	ENST00000325167.5	37	CCDS11774.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740451	0.30865	0.0	1.16E-4	ENSG00000176108	ENST00000325167	T	0.59364	0.27	4.77	1.58	0.23477	.	0.428871	0.22920	N	0.054027	T	0.38480	0.1042	N	0.22421	0.69	0.25115	N	0.99068	B	0.20052	0.041	B	0.11329	0.006	T	0.21965	-1.0230	10	0.45353	T	0.12	-28.1219	7.7351	0.28810	0.0:0.7203:0.0:0.2797	.	195	Q96FZ7	CHMP6_HUMAN	V	195	ENSP00000317468:A195V	ENSP00000317468:A195V	A	+	2	0	CHMP6	76587526	0.987000	0.35691	0.285000	0.24819	0.530000	0.34684	1.138000	0.31491	0.067000	0.16545	0.645000	0.84053	GCG		0.617	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438215.1	NM_024591		T	78972931	C	T	78972931	3	4	80	1	0	0	0	0	1	0	0	0	3360	768	27	1	614	1	CHMP6	17	78972931	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	37744427	78972931	2222279	38	4186											
CLUL1	27098	hgsc.bcm.edu	37	18	644982	644982	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr18:644982C>A	ENST00000400606.2	+	8	1427	c.1282C>A	c.(1282-1284)Cct>Act	p.P428T	CLUL1_ENST00000338387.7_Missense_Mutation_p.P428T|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000540035.1_Missense_Mutation_p.P480T|CLUL1_ENST00000579494.1_Missense_Mutation_p.P428T|CLUL1_ENST00000581619.1_Missense_Mutation_p.P453T	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	428					cell death (GO:0008219)	extracellular region (GO:0005576)		p.P428T(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AAGCATTCTGCCTTCCTCTAA	0.383																																																1	Substitution - Missense(1)	ovary(1)	18											108	101	103					18																	644982		1859	4101	5960	634982	SO:0001583	missense	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1282C>A	18.37:g.644982C>A	ENSP00000383449:p.Pro428Thr		634982	A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.353879	0.01256	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.22945	1.93;1.93;1.93	4.87	2.92	0.33932	Clusterin, C-terminal (1);	0.224065	0.45126	D	0.000384	T	0.14442	0.0349	L	0.31207	0.915	0.80722	D	1	B;B	0.23937	0.094;0.043	B;B	0.23419	0.027;0.046	T	0.07028	-1.0794	10	0.13470	T	0.59	-2.2025	5.8753	0.18826	0.282:0.6165:0.0:0.1015	.	480;428	F5GWQ8;Q15846	.;CLUL1_HUMAN	T	428;480;428	ENSP00000383449:P428T;ENSP00000441726:P480T;ENSP00000341128:P428T	ENSP00000341128:P428T	P	+	1	0	CLUL1	634982	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	1.051000	0.30417	1.278000	0.44430	0.591000	0.81541	CCT		0.383	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			A	644982	C	A	644982	3	1	80	1	0	0	0	0	1	0	0	0	3570	739	26	3	1308	3	CLUL1	18	644982	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10		644982	77432266	39	4187											
NEDD4L	23327	hgsc.bcm.edu	37	18	55912724	55912724	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr18:55912724C>A	ENST00000400345.3	+	3	471	c.188C>A	c.(187-189)aCa>aAa	p.T63K	NEDD4L_ENST00000586263.1_Missense_Mutation_p.T55K|NEDD4L_ENST00000456173.2_5'UTR|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000382850.4_Missense_Mutation_p.T63K|NEDD4L_ENST00000356462.6_Missense_Mutation_p.T63K|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000357895.5_Missense_Mutation_p.T55K|NEDD4L_ENST00000256830.9_Missense_Mutation_p.T63K|NEDD4L_ENST00000588516.1_3'UTR	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	63	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.T63K(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TTGGTCCAGACAAAAACAATT	0.318																																																1	Substitution - Missense(1)	ovary(1)	18											41	41	41					18																	55912724		1836	4091	5927	54063704	SO:0001583	missense	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.188C>A	18.37:g.55912724C>A	ENSP00000383199:p.Thr63Lys		54063704	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010305	0.93346	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000357895	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.99	5.99	0.97316	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	M	0.89968	3.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0	D	0.95178	0.8296	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	55;55;63;63;63	Q96PU5-6;Q96PU5-7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;NED4L_HUMAN;.	K	63;63;63;63;55	ENSP00000383199:T63K;ENSP00000372301:T63K;ENSP00000348847:T63K;ENSP00000256830:T63K;ENSP00000350569:T55K	ENSP00000256830:T63K	T	+	2	0	NEDD4L	54063704	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.844000	0.75390	2.840000	0.97914	0.655000	0.94253	ACA		0.318	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			A	55912724	C	A	55912724	3	1	80	1	0	0	0	0	1	0	0	0	10311	478	17	3	226	3	NEDD4L	18	55912724	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	55267742	55912724	22164524	40	4188											
PHLPP1	23239	hgsc.bcm.edu	37	18	60625876	60625876	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr18:60625876C>A	ENST00000262719.5	+	13	3573	c.3339C>A	c.(3337-3339)agC>agA	p.S1113R	PHLPP1_ENST00000400316.4_Missense_Mutation_p.S601R			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1113					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.S600R(1)		endometrium(2)|kidney(2)|lung(13)	17						TGGACCTGAGCTGTAATGAGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	18											142	136	138					18																	60625876		1919	4130	6049	58776856	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3339C>A	18.37:g.60625876C>A	ENSP00000262719:p.Ser1113Arg		58776856	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	31	5.101047	0.94245	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.21191	2.02;2.02	5.36	5.36	0.76844	.	.	.	.	.	T	0.45316	0.1336	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.20240	-1.0281	9	0.54805	T	0.06	-20.9905	19.2852	0.94067	0.0:1.0:0.0:0.0	.	1113	O60346	PHLP1_HUMAN	R	601;1113	ENSP00000383170:S601R;ENSP00000262719:S1113R	ENSP00000262719:S1113R	S	+	3	2	PHLPP1	58776856	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.786000	0.62425	2.800000	0.96347	0.650000	0.86243	AGC		0.448	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		A	60625876	C	A	60625876	3	1	80	1	0	0	0	0	1	0	0	0	11854	796	28	3	3389	3	PHLPP1	18	60625876	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	4713152	60625876	17451372	41	4189											
RAB3D	9545	hgsc.bcm.edu	37	19	11436141	11436141	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr19:11436141C>T	ENST00000222120.3	-	5	853	c.593G>A	c.(592-594)gGc>gAc	p.G198D	CTC-510F12.6_ENST00000586051.1_RNA|RAB3D_ENST00000589655.1_Missense_Mutation_p.G198D|TSPAN16_ENST00000316737.1_Intron|CTC-510F12.4_ENST00000586356.1_RNA	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	198					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.G198D(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CCCGTTGCTGCCTGAGCTGGA	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											60	54	56					19																	11436141		2203	4300	6503	11297141	SO:0001583	missense	9545			AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"RAB, member RAS oncogene"	9779	protein-coding gene	gene with protein product	"Rab3D upregulated with myeloid differentiation", "glioblastoma overexpressed"	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.593G>A	19.37:g.11436141C>T	ENSP00000222120:p.Gly198Asp		11297141		Missense_Mutation	SNP	ENST00000222120.3	37	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081732	0.36758	.	.	ENSG00000105514	ENST00000222120	T	0.63255	-0.03	4.99	3.91	0.45181	.	0.710719	0.13984	N	0.349289	T	0.45458	0.1343	N	0.19112	0.55	0.41518	D	0.988386	B	0.20550	0.046	B	0.23275	0.045	T	0.37478	-0.9704	10	0.33141	T	0.24	.	9.8214	0.40885	0.1589:0.7017:0.1393:0.0	.	198	O95716	RAB3D_HUMAN	D	198	ENSP00000222120:G198D	ENSP00000222120:G198D	G	-	2	0	RAB3D	11297141	0.031000	0.19500	0.995000	0.50966	0.972000	0.66771	-0.028000	0.12350	2.591000	0.87537	0.455000	0.32223	GGC		0.637	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		T	11436141	C	T	11436141	3	4	80	1	0	0	0	0	1	0	0	0	12937	739	26	2	70	2	RAB3D	19	11436141	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10		11436141	47692842	42	4190											
RYR1	6261	hgsc.bcm.edu	37	19	38959774	38959774	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr19:38959774G>T	ENST00000359596.3	+	26	3550	c.3550G>T	c.(3550-3552)Ggg>Tgg	p.G1184W	RYR1_ENST00000355481.4_Missense_Mutation_p.G1184W|RYR1_ENST00000360985.3_Missense_Mutation_p.G1184W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1184	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.G1184W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GATTGAGATTGGGGACGGTGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											96	83	87					19																	38959774		2203	4300	6503	43651614	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3550G>T	19.37:g.38959774G>T	ENSP00000352608:p.Gly1184Trp		43651614	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	12.87	2.066286	0.36470	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.76709	-1.04;-1.04;-1.04	3.84	1.65	0.23941	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.179118	0.33290	U	0.005077	D	0.86644	0.5982	M	0.87900	2.915	0.42377	D	0.992473	D;P	0.89917	1.0;0.774	D;P	0.78314	0.991;0.463	D	0.85082	0.0946	10	0.72032	D	0.01	.	7.7496	0.28890	0.0888:0.0:0.7497:0.1616	.	1184;1184	P21817-2;P21817	.;RYR1_HUMAN	W	1184	ENSP00000352608:G1184W;ENSP00000347667:G1184W;ENSP00000354254:G1184W	ENSP00000347667:G1184W	G	+	1	0	RYR1	43651614	1.000000	0.71417	0.993000	0.49108	0.841000	0.47740	6.243000	0.72384	0.310000	0.22990	0.377000	0.23210	GGG		0.542	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38959774	G	T	38959774	3	4	80	1	0	0	0	0	1	0	0	0	13771	1348	47	3	3652	3	RYR1	19	38959774	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10	27523633	38959774	20169209	43	4191											
AURKC	6795	hgsc.bcm.edu	37	19	57743552	57743552	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr19:57743552C>G	ENST00000302804.7	+	3	442	c.256C>G	c.(256-258)Cac>Gac	p.H86D	AURKC_ENST00000448930.1_Missense_Mutation_p.H52D|AURKC_ENST00000415300.2_Missense_Mutation_p.H67D|AURKC_ENST00000599062.1_Missense_Mutation_p.H83D|AURKC_ENST00000598785.1_Missense_Mutation_p.H52D	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.H52D(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGGACTGGAGCACCAGCTGCG	0.502																																																1	Substitution - Missense(1)	ovary(1)	19											57	48	51					19																	57743552		2203	4300	6503	62435364	SO:0001583	missense	6795				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.256C>G	19.37:g.57743552C>G	ENSP00000302898:p.His86Asp		62435364	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252650	0.39797	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.64618	-0.11;-0.11;-0.11	3.6	2.57	0.30868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051108	0.85682	D	0.000000	T	0.39627	0.1085	N	0.03903	-0.33	0.58432	D	0.999999	B;B;B	0.26876	0.084;0.037;0.162	B;B;B	0.34489	0.184;0.083;0.146	T	0.41142	-0.9525	10	0.87932	D	0	-11.3451	9.1607	0.37021	0.0:0.89:0.0:0.11	.	83;86;67	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	D	67;52;86	ENSP00000407162:H67D;ENSP00000406798:H52D;ENSP00000302898:H86D	ENSP00000302898:H86D	H	+	1	0	AURKC	62435364	1.000000	0.71417	0.992000	0.48379	0.849000	0.48306	4.803000	0.62546	1.103000	0.41568	0.555000	0.69702	CAC		0.502	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		G	57743552	C	G	57743552	3	3	80	1	0	0	0	0	1	0	0	0	1224	710	25	3	271	3	AURKC	19	57743552	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	18783778	57743552	1385431	44	4192											
PTPRT	11122	hgsc.bcm.edu	37	20	40727161	40727161	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr20:40727161G>T	ENST00000373187.1	-	27	3745	c.3746C>A	c.(3745-3747)aCc>aAc	p.T1249N	PTPRT_ENST00000373184.1_Missense_Mutation_p.T1259N|PTPRT_ENST00000356100.2_Missense_Mutation_p.T1258N|PTPRT_ENST00000373201.1_Missense_Mutation_p.T1239N|PTPRT_ENST00000373190.1_Missense_Mutation_p.T1248N|PTPRT_ENST00000373198.4_Missense_Mutation_p.T1268N|PTPRT_ENST00000373193.3_Missense_Mutation_p.T1252N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1249	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.T1271N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGTGCTGGGTGACCACGAA	0.527																																																1	Substitution - Missense(1)	ovary(1)	20											69	75	73					20																	40727161		2107	4250	6357	40160575	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3746C>A	20.37:g.40727161G>T	ENSP00000362283:p.Thr1249Asn		40160575	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106645	0.94292	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97943	1.0327	10	0.87932	D	0	.	20.0207	0.97499	0.0:0.0:1.0:0.0	.	1271;1249	O14522-1;O14522	.;PTPRT_HUMAN	N	1248;1249;1252;1258;1271;1259;1239	ENSP00000362286:T1248N;ENSP00000362283:T1249N;ENSP00000362289:T1252N;ENSP00000348408:T1258N;ENSP00000362294:T1271N;ENSP00000362280:T1259N;ENSP00000362297:T1239N	ENSP00000348408:T1258N	T	-	2	0	PTPRT	40160575	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.739000	0.93911	0.563000	0.77884	ACC		0.527	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			T	40727161	G	T	40727161	3	4	80	1	0	0	0	0	1	0	0	0	12815	1261	44	3	599	3	PTPRT	20	40727161	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10		40727161	22298359	45	4193											
KCNJ15	3772	hgsc.bcm.edu	37	21	39672247	39672247	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chr21:39672247A>T	ENST00000328656.4	+	4	1367	c.1064A>T	c.(1063-1065)tAc>tTc	p.Y355F	KCNJ15_ENST00000398934.1_Missense_Mutation_p.Y355F|KCNJ15_ENST00000398930.1_Missense_Mutation_p.Y355F|KCNJ15_ENST00000398938.2_Missense_Mutation_p.Y355F|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Y355F	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	355					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.Y355F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GAGGAGAAGTACAGGCAGGAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	21											53	55	54					21																	39672247		2203	4300	6503	38594117	SO:0001583	missense	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.1064A>T	21.37:g.39672247A>T	ENSP00000331698:p.Tyr355Phe		38594117	D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084092	0.36758	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000398930;ENST00000398934	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	5.83	5.83	0.93111	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.470091	0.22257	N	0.062479	D	0.91408	0.7289	L	0.55834	1.745	0.54753	D	0.99998	B	0.25235	0.121	B	0.26416	0.069	D	0.88261	0.2923	9	.	.	.	.	16.2127	0.82178	1.0:0.0:0.0:0.0	.	355	Q99712	IRK15_HUMAN	F	355	ENSP00000331698:Y355F;ENSP00000381911:Y355F;ENSP00000381905:Y355F;ENSP00000381904:Y355F;ENSP00000381907:Y355F	.	Y	+	2	0	KCNJ15	38594117	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.657000	0.61490	2.236000	0.73375	0.533000	0.62120	TAC		0.453	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		T	39672247	A	T	39672247	3	4	80	1	0	0	0	0	1	0	0	0	8049	391	14	5	1066	5	KCNJ15	21	39672247	Missense_Mutation	SNP	A	TCGA-13-0761-01A-01W-0370-10		39672247	8457648	46	4194											
KCND1	3750	hgsc.bcm.edu	37	X	48819869	48819869	+	Silent	SNP	G	G	C			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chrX:48819869G>C	ENST00000218176.3	-	6	3214	c.1917C>G	c.(1915-1917)ccC>ccG	p.P639P	KCND1_ENST00000376477.1_Silent_p.P262P	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	639					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.P639P(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	TGACAGTCTCGGGGAAGAGGC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	X											23	21	22					X																	48819869		2203	4300	6503	48704813	SO:0001819	synonymous_variant	3750			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1917C>G	X.37:g.48819869G>C			48704813	A6NEF1|B2RCG0|O75671	Silent	SNP	ENST00000218176.3	37	CCDS14314.1																																																																																				0.587	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		C	48819869	G	C	48819869	2	2	80	1	0	0	0	0	0	0	0	1	8018	1103	39	3		3	KCND1	23	48819869	Silent	SNP	G	TCGA-13-0761-01A-01W-0370-10		48819869	106450691	47	4195											
IQSEC2	23096	hgsc.bcm.edu	37	X	53270968	53270968	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chrX:53270968C>A	ENST00000375368.5	-	9	3183	c.2983G>T	c.(2983-2985)Gtg>Ttg	p.V995L	IQSEC2_ENST00000375365.2_Missense_Mutation_p.V800L|IQSEC2_ENST00000396435.3_Missense_Mutation_p.V1005L			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	995	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.V1002L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCTCATACCACAAGGAGATCA	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											84	60	68					X																	53270968		2203	4300	6503	53287693	SO:0001583	missense	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2983G>T	X.37:g.53270968C>A	ENSP00000364517:p.Val995Leu		53287693	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	c	17.68	3.450435	0.63290	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.55930	0.49;0.49;0.49	5.12	5.12	0.69794	.	0.246012	0.40554	N	0.001072	T	0.45955	0.1368	L	0.35723	1.085	0.80722	D	1	B;B	0.26512	0.151;0.098	B;B	0.27796	0.083;0.045	T	0.38436	-0.9661	10	0.38643	T	0.18	.	16.6748	0.85276	0.0:1.0:0.0:0.0	.	1005;800	Q5JU85-2;Q5JU85-3	.;.	L	1005;995;800	ENSP00000379712:V1005L;ENSP00000364517:V995L;ENSP00000364514:V800L	ENSP00000364514:V800L	V	-	1	0	IQSEC2	53287693	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.283000	0.76528	0.585000	0.79938	GTG		0.547	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		A	53270968	C	A	53270968	3	1	80	1	0	0	0	0	1	0	0	0	7818	478	17	3	1477	3	IQSEC2	23	53270968	Missense_Mutation	SNP	C	TCGA-13-0761-01A-01W-0370-10	4451099	53270968	101999592	48	4196											
ATRX	546	hgsc.bcm.edu	37	X	76919015	76919015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chrX:76919015delA	ENST00000373344.5	-	12	4190	c.3976delT	c.(3976-3978)tcafs	p.S1326fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1288fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1326	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.S1326fs*20(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAGAATCTGAATCTGATTCA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Unknown(1)|Deletion - Frameshift(1)	ovary(1)|bone(1)	X											67	56	60					X																	76919015		2203	4296	6499	76805671	SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3976delT	X.37:g.76919015delA	ENSP00000362441:p.Ser1326fs		76805671	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76919015	A	-	76919015	7	5	80	1	0	1	0	1	0	0	0	0	1208	246	9	0	3598	0	ATRX	23	76919015	Frame_Shift_Del	DEL	A	TCGA-13-0761-01A-01W-0370-10	23648047	76919015	78351545	49	4197											
SMARCA1	6594	hgsc.bcm.edu	37	X	128649709	128649709	+	Silent	SNP	G	G	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chrX:128649709G>T	ENST00000371122.4	-	5	714	c.585C>A	c.(583-585)atC>atA	p.I195I	SMARCA1_ENST00000371123.1_Silent_p.I195I|SMARCA1_ENST00000371121.3_Silent_p.I195I|SMARCA1_ENST00000478420.1_5'UTR	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	195	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I195I(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CATATAAAGAGATCAACCAAT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	X											86	83	84					X																	128649709		2203	4300	6503	128477390	SO:0001819	synonymous_variant	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.585C>A	X.37:g.128649709G>T			128477390	Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	CCDS14612.1																																																																																				0.348	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		T	128649709	G	T	128649709	2	4	80	1	0	0	0	0	0	0	0	1	14771	932	33	3		3	SMARCA1	23	128649709	Silent	SNP	G	TCGA-13-0761-01A-01W-0370-10	51730694	128649709	26620851	50	4198											
ZNF449	203523	hgsc.bcm.edu	37	X	134494391	134494391	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chrX:134494391A>T	ENST00000339249.4	+	5	1087	c.947A>T	c.(946-948)aAg>aTg	p.K316M		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	316					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.K316M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CACAAGAAAAAGAGTCCAGGA	0.463																																																1	Substitution - Missense(1)	ovary(1)	X											57	57	57					X																	134494391		2202	4298	6500	134322057	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.947A>T	X.37:g.134494391A>T	ENSP00000339585:p.Lys316Met		134322057	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	A	8.685	0.906155	0.17760	.	.	ENSG00000173275	ENST00000339249	T	0.07021	3.23	4.86	2.53	0.30540	.	0.136380	0.33938	N	0.004420	T	0.06872	0.0175	N	0.21142	0.635	0.26314	N	0.977772	B	0.31611	0.331	B	0.41299	0.353	T	0.23154	-1.0196	10	0.48119	T	0.1	.	3.3578	0.07176	0.5833:0.2058:0.2109:0.0	.	316	Q6P9G9	ZN449_HUMAN	M	316	ENSP00000339585:K316M	ENSP00000339585:K316M	K	+	2	0	ZNF449	134322057	0.004000	0.15560	0.719000	0.30619	0.084000	0.17831	0.336000	0.19823	0.781000	0.33589	0.481000	0.45027	AAG		0.463	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		T	134494391	A	T	134494391	3	4	80	1	0	0	0	0	1	0	0	0	17920	72	3	5	961	5	ZNF449	23	134494391	Missense_Mutation	SNP	A	TCGA-13-0761-01A-01W-0370-10	5844682	134494391	20776169	51	4199											
L1CAM	3897	hgsc.bcm.edu	37	X	153130774	153130774	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0761-01A-01W-0370-10	TCGA-13-0761-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d192342f-16de-4295-b9ba-9d471b400587	72a59650-844d-4702-9a90-ce3c281cd312	g.chrX:153130774G>T	ENST00000370060.1	-	21	2918	c.2729C>A	c.(2728-2730)aCc>aAc	p.T910N	L1CAM_ENST00000370055.1_Missense_Mutation_p.T905N|L1CAM_ENST00000361981.3_Missense_Mutation_p.T905N|L1CAM_ENST00000543994.1_Missense_Mutation_p.T912N|L1CAM_ENST00000361699.4_Missense_Mutation_p.T910N|L1CAM_ENST00000538883.1_Missense_Mutation_p.T912N|L1CAM_ENST00000370057.3_Missense_Mutation_p.T910N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	910	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.T910N(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)					GGTGCTGAAGGTGAACTCGCT	0.652																																																1	Substitution - Missense(1)	ovary(1)	X											57	55	56					X																	153130774		2203	4300	6503	152783968	SO:0001583	missense	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.2729C>A	X.37:g.153130774G>T	ENSP00000359077:p.Thr910Asn		152783968	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.169	0.587314	0.13812	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.17	3.02	0.34903	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.385688	0.21342	N	0.076117	T	0.32406	0.0828	L	0.31120	0.905	0.23010	N	0.998437	B;B;B	0.16396	0.017;0.002;0.01	B;B;B	0.17433	0.018;0.014;0.008	T	0.13980	-1.0489	10	0.12766	T	0.61	.	4.5334	0.12017	0.2903:0.1777:0.532:0.0	.	905;910;910	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	N	910;912;910;912;905;905;910	ENSP00000359077:T910N;ENSP00000438430:T912N;ENSP00000359074:T910N;ENSP00000439645:T912N;ENSP00000354712:T905N;ENSP00000359072:T905N;ENSP00000355380:T910N	ENSP00000355380:T910N	T	-	2	0	L1CAM	152783968	0.593000	0.26840	0.282000	0.24776	0.282000	0.26991	0.849000	0.27723	0.956000	0.37904	0.529000	0.55759	ACC		0.652	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		T	153130774	G	T	153130774	3	4	80	1	0	0	0	0	1	0	0	0	8588	1261	44	3	1080	3	L1CAM	23	153130774	Missense_Mutation	SNP	G	TCGA-13-0761-01A-01W-0370-10	18636383	153130774	2139786	52	4200											
ZMYM4	9202	hgsc.bcm.edu	37	1	35855647	35855647	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr1:35855647G>C	ENST00000314607.6	+	15	2615	c.2535G>C	c.(2533-2535)ttG>ttC	p.L845F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.L756F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	845					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L845F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTGTATCTTGATGTTCTGTA	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											140	132	135					1																	35855647		2203	4300	6503	35628234	SO:0001583	missense	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2535G>C	1.37:g.35855647G>C	ENSP00000322915:p.Leu845Phe		35628234	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.181473|3.181473	0.57800|0.57800	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|T;T	.|0.34072	.|1.38;1.6	5.39|5.39	3.51|3.51	0.40186|0.40186	.|TRASH (1);	.|0.084603	.|0.49305	.|D	.|0.000159	T|T	0.58864|0.58864	0.2152|0.2152	M|M	0.76838|0.76838	2.35|2.35	0.37663|0.37663	D|D	0.922846|0.922846	.|D	.|0.89917	.|1.0	.|D	.|0.76071	.|0.987	T|T	0.64330|0.64330	-0.6433|-0.6433	5|10	.|0.66056	.|D	.|0.02	-5.5677|-5.5677	12.017|12.017	0.53319|0.53319	0.1988:0.0:0.8012:0.0|0.1988:0.0:0.8012:0.0	.|.	.|845	.|Q5VZL5	.|ZMYM4_HUMAN	H|F	505|845;756	.|ENSP00000322915:L845F;ENSP00000362394:L756F	.|ENSP00000322915:L845F	D|L	+|+	1|3	0|2	ZMYM4|ZMYM4	35628234|35628234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	1.624000|1.624000	0.37018|0.37018	0.274000|0.274000	0.22072|0.22072	-1.936000|-1.936000	0.00505|0.00505	GAT|TTG		0.408	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		C	35855647	G	C	35855647	3	2	81	1	0	0	0	0	1	0	0	0	17702	1281	45	3	2593	3	ZMYM4	1	35855647	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10		35855647	213394974	1	4201											
CYP4A11	1579	hgsc.bcm.edu	37	1	47401277	47401277	+	Missense_Mutation	SNP	C	C	A	rs62618709		TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr1:47401277C>A	ENST00000310638.4	-	5	584	c.553G>T	c.(553-555)Gtc>Ttc	p.V185F	CYP4A11_ENST00000457840.2_Missense_Mutation_p.V81F|CYP4A11_ENST00000462347.1_Missense_Mutation_p.V185F|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.V185F|CYP4A11_ENST00000371904.4_Missense_Mutation_p.V185F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	185					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.V185F(3)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TGCTGAAAGACCTCCAGAGGG	0.542																																																3	Substitution - Missense(3)	ovary(2)|large_intestine(1)	1											84	69	74					1																	47401277		2203	4298	6501	47173864	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.553G>T	1.37:g.47401277C>A	ENSP00000311095:p.Val185Phe		47173864	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	17.32	3.360913	0.61403	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.45	5.14	-6.37	0.01963	.	0.621999	0.16471	N	0.212985	T	0.65523	0.2699	M	0.65975	2.015	0.26764	N	0.969943	P	0.41947	0.766	P	0.45794	0.493	T	0.64063	-0.6495	10	0.59425	D	0.04	.	8.6725	0.34159	0.0:0.3111:0.2715:0.4174	rs62618709	185	Q02928	CP4AB_HUMAN	F	185;185;185;81	ENSP00000311095:V185F;ENSP00000360971:V185F;ENSP00000360972:V185F;ENSP00000406272:V81F	ENSP00000311095:V185F	V	-	1	0	CYP4A11	47173864	0.000000	0.05858	0.343000	0.25615	0.146000	0.21551	-0.730000	0.04915	-0.867000	0.04063	-0.827000	0.03088	GTC		0.542	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		A	47401277	C	A	47401277	3	1	81	1	0	0	0	0	1	0	0	0	4183	507	18	3	1038	3	CYP4A11	1	47401277	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	11545630	47401277	201849344	2	4202											
SYT6	148281	hgsc.bcm.edu	37	1	114641783	114641783	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr1:114641783T>A	ENST00000610222.1	-	5	1443	c.1297A>T	c.(1297-1299)Atc>Ttc	p.I433F	SYT6_ENST00000369547.1_Missense_Mutation_p.I348F|SYT6_ENST00000609117.1_Missense_Mutation_p.I348F|SYT6_ENST00000393296.1_Missense_Mutation_p.I433F|SYT6_ENST00000607941.1_Missense_Mutation_p.I348F			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	433	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.I348V(1)|p.I348F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTCAAAGATGATGGCCTCA	0.463																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											288	224	246					1																	114641783		2203	4300	6503	114443306	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1297A>T	1.37:g.114641783T>A	ENSP00000476396:p.Ile433Phe		114443306	B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	T	23.6	4.439247	0.83885	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.77	5.77	0.91146	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	N	0.17872	0.535	0.80722	D	1	P	0.50819	0.939	P	0.59825	0.864	T	0.68356	-0.5430	10	0.59425	D	0.04	.	16.0879	0.81070	0.0:0.0:0.0:1.0	.	433	Q5T7P8	SYT6_HUMAN	F	348;433;348;433	ENSP00000358560:I348F;ENSP00000376974:I433F;ENSP00000358559:I348F;ENSP00000358558:I433F	ENSP00000358558:I433F	I	-	1	0	SYT6	114443306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.276000	0.72601	2.199000	0.70637	0.533000	0.62120	ATC		0.463	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		A	114641783	T	A	114641783	3	1	81	1	0	0	0	0	1	0	0	0	15478	1464	51	5	247	5	SYT6	1	114641783	Missense_Mutation	SNP	T	TCGA-13-0762-01A-01W-0370-10	67240506	114641783	134608838	3	4203											
HMCN1	83872	hgsc.bcm.edu	37	1	185987407	185987407	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr1:185987407C>G	ENST00000271588.4	+	34	5622	c.5393C>G	c.(5392-5394)tCa>tGa	p.S1798*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S1798*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1798	Ig-like C2-type 15.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S1798*(1)|p.S1798L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTCAAGTGTCAAACACAGGC	0.433																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|lung(1)	1											153	151	151					1																	185987407		2203	4300	6503	184254030	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5393C>G	1.37:g.185987407C>G	ENSP00000271588:p.Ser1798*		184254030	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	48	14.037834	0.99776	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.89	4.98	0.66077	.	0.061332	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	14.7816	0.69772	0.0:0.9311:0.0:0.0689	.	.	.	.	X	1798	.	ENSP00000271588:S1798X	S	+	2	0	HMCN1	184254030	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.507000	0.66999	1.496000	0.48567	0.563000	0.77884	TCA		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	185987407	C	G	185987407	4	3	81	1	0	0	0	0	0	1	0	0	7220	838	29	3	5527	3	HMCN1	1	185987407	Nonsense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	71345624	185987407	63263214	4	4204											
HMCN1	83872	hgsc.bcm.edu	37	1	186007066	186007066	+	Splice_Site	SNP	A	A	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr1:186007066A>T	ENST00000271588.4	+	37	5979	c.5750A>T	c.(5749-5751)gAa>gTa	p.E1917V	HMCN1_ENST00000367492.2_Splice_Site_p.E1917V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1917					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E1917V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTCTTGTAGAACCACCTAGT	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											104	99	100					1																	186007066		2203	4300	6503	184273689	SO:0001630	splice_region_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5750-1A>T	1.37:g.186007066A>T			184273689	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634417	0.47049	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.72394	-0.65;-0.65	5.52	5.52	0.82312	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	N	0.05306	-0.075	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	T	0.70263	-0.4920	9	.	.	.	.	15.3069	0.73998	1.0:0.0:0.0:0.0	.	1917	Q96RW7	HMCN1_HUMAN	V	1917	ENSP00000271588:E1917V;ENSP00000356462:E1917V	.	E	+	2	0	HMCN1	184273689	1.000000	0.71417	0.979000	0.43373	0.010000	0.07245	6.594000	0.74104	2.100000	0.63781	0.454000	0.30748	GAA		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	T	186007066	A	T	186007066	5	4	81	1	0	0	0	0	0	0	1	0	7220	260	9	5	5896	5	HMCN1	1	186007066	Splice_Site	SNP	A	TCGA-13-0762-01A-01W-0370-10	19659	186007066	63243555	5	4205											
PKP1	5317	hgsc.bcm.edu	37	1	201286873	201286873	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr1:201286873A>T	ENST00000352845.3	+	5	1020	c.1020A>T	c.(1018-1020)agA>agT	p.R340S	PKP1_ENST00000263946.3_Missense_Mutation_p.R340S|PKP1_ENST00000367324.3_Missense_Mutation_p.R340S|PKP1_ENST00000475988.1_3'UTR			Q13835	PKP1_HUMAN	plakophilin 1	340					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)	p.R340S(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TCCTGAGGAGAACCGGGAACG	0.652																																																1	Substitution - Missense(1)	ovary(1)	1											32	34	33					1																	201286873		2203	4300	6503	199553496	SO:0001583	missense	5317			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1020A>T	1.37:g.201286873A>T	ENSP00000295597:p.Arg340Ser		199553496	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440317	0.43326	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.39406	1.08;1.08;1.08	5.24	-2.17	0.07059	Armadillo-like helical (1);Armadillo-type fold (1);	0.297519	0.42172	D	0.000749	T	0.28200	0.0696	L	0.56280	1.765	0.32181	N	0.580348	B;B	0.23058	0.01;0.079	B;B	0.21151	0.033;0.031	T	0.06643	-1.0815	10	0.49607	T	0.09	-11.3622	2.1977	0.03915	0.3006:0.1419:0.417:0.1405	.	340;340	Q13835-2;Q13835	.;PKP1_HUMAN	S	340	ENSP00000356293:R340S;ENSP00000263946:R340S;ENSP00000295597:R340S	ENSP00000263946:R340S	R	+	3	2	PKP1	199553496	0.252000	0.23972	0.910000	0.35882	0.795000	0.44927	-0.304000	0.08199	-0.252000	0.09528	0.451000	0.29950	AGA		0.652	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		T	201286873	A	T	201286873	3	4	81	1	0	0	0	0	1	0	0	0	11984	243	9	5	1038	5	PKP1	1	201286873	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10	15279807	201286873	47963748	6	4206											
VIL1	7429	hgsc.bcm.edu	37	2	219297657	219297657	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr2:219297657C>T	ENST00000248444.5	+	13	1571	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	VIL1_ENST00000392114.2_Missense_Mutation_p.R184C	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	495	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.R495C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAAGGGACGCATGGTGGT	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											130	89	103					2																	219297657		2203	4300	6503	219005901	SO:0001583	missense	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1483C>T	2.37:g.219297657C>T	ENSP00000248444:p.Arg495Cys		219005901	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424212	0.25639	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000419986	T;T;T	0.17528	2.53;2.53;2.27	4.66	2.86	0.33363	.	1.245940	0.05445	N	0.548368	T	0.18841	0.0452	L	0.54323	1.7	0.23620	N	0.997273	B	0.10296	0.003	B	0.09377	0.004	T	0.31138	-0.9954	10	0.72032	D	0.01	-0.0374	5.0913	0.14710	0.26:0.5732:0.0:0.1668	.	495	P09327	VILI_HUMAN	C	495;184;64	ENSP00000248444:R495C;ENSP00000375962:R184C;ENSP00000394030:R64C	ENSP00000248444:R495C	R	+	1	0	VIL1	219005901	0.878000	0.30173	0.565000	0.28409	0.668000	0.39293	3.634000	0.54302	0.591000	0.29711	0.561000	0.74099	CGC		0.562	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		T	219297657	C	T	219297657	3	4	81	1	0	0	0	0	1	0	0	0	17164	536	19	1	1529	1	VIL1	2	219297657	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10		219297657	23901716	7	4207											
TTLL3	26140	hgsc.bcm.edu	37	3	9868888	9868888	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr3:9868888T>C	ENST00000547186.1	+	9	1298	c.1082T>C	c.(1081-1083)tTt>tCt	p.F361S	TTLL3_ENST00000427853.3_Missense_Mutation_p.F149S|TTLL3_ENST00000466245.1_Intron|TTLL3_ENST00000430793.1_Missense_Mutation_p.F149S|TTLL3_ENST00000397241.1_Missense_Mutation_p.F149S|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.F422S|TTLL3_ENST00000383827.1_Missense_Mutation_p.F149S|TTLL3_ENST00000455274.1_Missense_Mutation_p.F149S|TTLL3_ENST00000426895.4_Missense_Mutation_p.F504S	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	361	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.F361S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TATATCCGCTTTTCCACGCAG	0.567																																																1	Substitution - Missense(1)	ovary(1)	3											111	99	103					3																	9868888		2203	4300	6503	9843888	SO:0001583	missense	26140				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1082T>C	3.37:g.9868888T>C	ENSP00000446659:p.Phe361Ser		9843888	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37		.	.	.	.	.	.	.	.	.	.	T	23.9	4.472901	0.84640	.	.	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.09	5.09	0.68999	.	0.000000	0.64402	U	0.000002	T	0.46464	0.1394	H	0.96489	3.83	0.58432	D	0.999996	D;D;P;D;D	0.89917	0.999;0.992;0.955;0.964;1.0	D;D;P;P;D	0.81914	0.995;0.925;0.772;0.714;0.995	T	0.64483	-0.6397	10	0.87932	D	0	.	14.562	0.68148	0.0:0.0:0.0:1.0	.	300;149;149;149;361	B4DM47;Q9Y4R7-2;B2RCJ2;Q9Y4R7-5;Q9Y4R7	.;.;.;.;TTLL3_HUMAN	S	422;504;361;149;149;299;149;149;149	ENSP00000380427:F422S;ENSP00000392549:F504S;ENSP00000446659:F361S;ENSP00000380416:F149S;ENSP00000394462:F149S;ENSP00000398097:F299S;ENSP00000373338:F149S;ENSP00000409632:F149S;ENSP00000403874:F149S	ENSP00000380416:F149S	F	+	2	0	ARPC4-TTLL3;TTLL3	9843888	1.000000	0.71417	0.998000	0.56505	0.812000	0.45895	7.699000	0.84547	1.908000	0.55244	0.455000	0.32223	TTT		0.567	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		C	9868888	T	C	9868888	3	2	81	1	0	0	0	0	1	0	0	0	16728	1841	64	4	1112	4	TTLL3	3	9868888	Missense_Mutation	SNP	T	TCGA-13-0762-01A-01W-0370-10		9868888	188153542	8	4208											
GLB1	2720	hgsc.bcm.edu	37	3	33099620	33099621	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr3:33099620_33099621delCC	ENST00000399402.3	-	6	734_735	c.603_604delGG	c.(601-606)ggggccfs	p.A202fs	GLB1_ENST00000445488.2_Frame_Shift_Del_p.A280fs|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Frame_Shift_Del_p.A232fs	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	232					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.A232fs*27(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCCTGCAGGGCCCCACATTTCA	0.485																																																1	Deletion - Frameshift(1)	ovary(1)	3																																								33074625	SO:0001589	frameshift_variant	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.603_604delGG	3.37:g.33099622_33099623delCC	ENSP00000382333:p.Ala202fs		33074624	B2R7H8|B7Z6B0|P16279	Frame_Shift_Del	DEL	ENST00000399402.3	37	CCDS43062.1																																																																																				0.485	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		-	33099621	CC	-	33099620	7	5	81	1	0	1	0	1	0	0	0	0	6427	739	26	0	1383	0	GLB1	3	33099620	Frame_Shift_Del	DEL	CC	TCGA-13-0762-01A-01W-0370-10	23230732	33099620	164922810	9	4209											
XIRP1	165904	hgsc.bcm.edu	37	3	39229937	39229937	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr3:39229937C>A	ENST00000340369.3	-	2	1228	c.1000G>T	c.(1000-1002)Gac>Tac	p.D334Y	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.D334Y	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	334					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.D334Y(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGATAAGGTCTGGGGATGGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	3											74	83	80					3																	39229937		2203	4300	6503	39204941	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1000G>T	3.37:g.39229937C>A	ENSP00000343140:p.Asp334Tyr		39204941	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432340	0.62844	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.06933	3.24;3.62	4.8	4.8	0.61643	.	0.514948	0.20196	N	0.097213	T	0.16727	0.0402	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	T	0.02282	-1.1183	10	0.66056	D	0.02	.	13.7551	0.62933	0.0:1.0:0.0:0.0	.	334;334	Q702N8;Q702N8-2	XIRP1_HUMAN;.	Y	334	ENSP00000379550:D334Y;ENSP00000343140:D334Y	ENSP00000343140:D334Y	D	-	1	0	XIRP1	39204941	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.699000	0.54778	2.394000	0.81467	0.591000	0.81541	GAC		0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39229937	C	A	39229937	3	1	81	1	0	0	0	0	1	0	0	0	17429	913	32	3	4535	3	XIRP1	3	39229937	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	6130317	39229937	158792493	10	4210											
PRICKLE2	166336	hgsc.bcm.edu	37	3	64133000	64133000	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr3:64133000T>A	ENST00000295902.6	-	7	1751	c.1166A>T	c.(1165-1167)aAc>aTc	p.N389I	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.N445I	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	389					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N389I(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGGTCCCGGTTGAGGCTGGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											71	79	77					3																	64133000		2203	4300	6503	64108040	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1166A>T	3.37:g.64133000T>A	ENSP00000295902:p.Asn389Ile		64108040	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657328	0.29425	.	.	ENSG00000163637	ENST00000295902	T	0.60171	0.21	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	L	0.53249	1.67	0.51482	D	0.999928	D	0.56521	0.976	P	0.45577	0.486	T	0.60747	-0.7202	10	0.52906	T	0.07	-54.4535	12.0535	0.53520	0.0:0.0688:0.0:0.9312	.	389	Q7Z3G6	PRIC2_HUMAN	I	389	ENSP00000295902:N389I	ENSP00000295902:N389I	N	-	2	0	PRICKLE2	64108040	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	2.842000	0.48230	2.242000	0.73789	0.402000	0.26972	AAC		0.607	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		A	64133000	T	A	64133000	3	1	81	1	0	0	0	0	1	0	0	0	12490	1725	60	5	1376	5	PRICKLE2	3	64133000	Missense_Mutation	SNP	T	TCGA-13-0762-01A-01W-0370-10	24903063	64133000	133889430	11	4211											
DZIP3	9666	hgsc.bcm.edu	37	3	108363568	108363568	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr3:108363568G>C	ENST00000361582.3	+	14	1929	c.1699G>C	c.(1699-1701)Gtc>Ctc	p.V567L	DZIP3_ENST00000463306.1_Missense_Mutation_p.V567L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	567					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V567L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCAGCTATCTGTCTACCTAGG	0.388																																																1	Substitution - Missense(1)	ovary(1)	3											96	93	94					3																	108363568		2203	4300	6503	109846258	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1699G>C	3.37:g.108363568G>C	ENSP00000355028:p.Val567Leu		109846258	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	8.896	0.955291	0.18507	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T	0.17054	2.3;2.3	4.13	2.98	0.34508	.	0.402083	0.21365	N	0.075730	T	0.06962	0.0177	N	0.08118	0	0.20821	N	0.999849	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.002	T	0.39165	-0.9627	10	0.13108	T	0.6	-2.6736	6.3453	0.21345	0.8892:0.0:0.1108:0.0	.	185;567;567	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	L	567	ENSP00000355028:V567L;ENSP00000419981:V567L	ENSP00000355028:V567L	V	+	1	0	DZIP3	109846258	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	0.267000	0.18552	0.936000	0.37367	-0.238000	0.12139	GTC		0.388	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		C	108363568	G	C	108363568	3	2	81	1	0	0	0	0	1	0	0	0	4865	1377	48	3	1749	3	DZIP3	3	108363568	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	44230568	108363568	89658862	12	4212											
ZIC1	7545	hgsc.bcm.edu	37	3	147131190	147131190	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr3:147131190C>G	ENST00000282928.4	+	3	1925	c.1196C>G	c.(1195-1197)tCt>tGt	p.S399C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	399	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S399C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCGCCAGCTCTGGCTACGAA	0.617																																																1	Substitution - Missense(1)	ovary(1)	3											101	91	95					3																	147131190		2203	4300	6503	148613880	SO:0001583	missense	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1196C>G	3.37:g.147131190C>G	ENSP00000282928:p.Ser399Cys		148613880	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.48|18.48	3.633215|3.633215	0.67015|0.67015	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000488404|ENST00000282928	.|T	.|0.14640	.|2.49	3.37|3.37	3.37|3.37	0.38596|0.38596	.|.	.|0.000000	.|0.64402	.|U	.|0.000004	T|T	0.40979|0.40979	0.1139|0.1139	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.70935	.|0.971	T|T	0.52335|0.52335	-0.8589|-0.8589	5|10	.|0.56958	.|D	.|0.05	.|.	14.7459|14.7459	0.69490|0.69490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|399	.|Q15915	.|ZIC1_HUMAN	V|C	88|399	.|ENSP00000282928:S399C	.|ENSP00000282928:S399C	L|S	+|+	1|2	2|0	ZIC1|ZIC1	148613880|148613880	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.624000|0.624000	0.37722|0.37722	7.111000|7.111000	0.77077|0.77077	1.431000|1.431000	0.47355|0.47355	0.462000|0.462000	0.41574|0.41574	CTG|TCT		0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		G	147131190	C	G	147131190	3	3	81	1	0	0	0	0	1	0	0	0	17678	913	32	3	1206	3	ZIC1	3	147131190	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	38767622	147131190	50891240	13	4213											
SLIT2	9353	hgsc.bcm.edu	37	4	20619085	20619085	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr4:20619085C>G	ENST00000504154.1	+	36	4412	c.4160C>G	c.(4159-4161)cCc>cGc	p.P1387R	SLIT2_ENST00000273739.5_Missense_Mutation_p.P1400R|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1379R|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1383R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1387					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.P1387R(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCTGCTTGCCCATCAATGCG	0.507																																																1	Substitution - Missense(1)	ovary(1)	4											101	87	92					4																	20619085		2203	4300	6503	20228183	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4160C>G	4.37:g.20619085C>G	ENSP00000422591:p.Pro1387Arg		20228183	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250751	0.80135	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	5.9	5.9	0.94986	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.255981	0.46442	D	0.000295	D	0.88262	0.6389	L	0.28740	0.885	0.80722	D	1	B;P	0.42248	0.025;0.774	B;B	0.41988	0.069;0.372	D	0.85718	0.1323	10	0.16896	T	0.51	.	18.4595	0.90734	0.0:1.0:0.0:0.0	.	1379;1387	O94813-3;O94813	.;SLIT2_HUMAN	R	1379;1387;1400;1383;1383	ENSP00000427548:P1379R;ENSP00000422591:P1387R;ENSP00000273739:P1400R;ENSP00000422261:P1383R	ENSP00000273739:P1400R	P	+	2	0	SLIT2	20228183	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.495000	0.81514	2.788000	0.95919	0.650000	0.86243	CCC		0.507	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			G	20619085	C	G	20619085	3	3	81	1	0	0	0	0	1	0	0	0	14743	623	22	3	4302	3	SLIT2	4	20619085	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10		20619085	170535191	14	4214											
USP46	64854	hgsc.bcm.edu	37	4	53492362	53492362	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr4:53492362delC	ENST00000441222.3	-	4	568	c.384delG	c.(382-384)ttgfs	p.L129fs	USP46_ENST00000451218.2_Frame_Shift_Del_p.L102fs|USP46_ENST00000508499.1_Frame_Shift_Del_p.L122fs	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	129	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L128fs*2(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TAGTGTTTAGCAAATAATTTA	0.358																																																1	Deletion - Frameshift(1)	ovary(1)	4											81	74	76					4																	53492362		1814	4085	5899	53187119	SO:0001589	frameshift_variant	64854			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.384delG	4.37:g.53492362delC	ENSP00000407818:p.Leu129fs		53187119	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Frame_Shift_Del	DEL	ENST00000441222.3	37	CCDS47053.1																																																																																				0.358	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		-	53492362	C	-	53492362	7	5	81	1	0	1	0	1	0	0	0	0	17077	709	25	0	740	0	USP46	4	53492362	Frame_Shift_Del	DEL	C	TCGA-13-0762-01A-01W-0370-10	32873277	53492362	137661914	15	4215											
CCNG2	901	hgsc.bcm.edu	37	4	78085511	78085511	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr4:78085511G>C	ENST00000316355.5	+	7	1146	c.790G>C	c.(790-792)Gat>Cat	p.D264H	CCNG2_ENST00000502280.1_Missense_Mutation_p.D264H|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.D264H|CCNG2_ENST00000395640.1_Missense_Mutation_p.D264H|CCNG2_ENST00000354403.5_Missense_Mutation_p.D264H	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	264					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)		p.D264H(1)		breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGCAAACCAGATCTTAAGAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	4											91	91	91					4																	78085511		2203	4300	6503	78304535	SO:0001583	missense	901			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.790G>C	4.37:g.78085511G>C	ENSP00000315743:p.Asp264His		78304535	B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990873	0.54041	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.7	5.7	0.88788	.	0.097704	0.64402	D	0.000001	T	0.50292	0.1607	L	0.57536	1.79	0.48395	D	0.999641	D;D	0.89917	0.992;1.0	P;D	0.70227	0.887;0.968	T	0.37911	-0.9685	10	0.09084	T	0.74	-27.0351	13.0814	0.59115	0.0731:0.0:0.9269:0.0	.	264;264	B4DF25;Q16589	.;CCNG2_HUMAN	H	264	ENSP00000315743:D264H;ENSP00000346379:D264H;ENSP00000424665:D264H;ENSP00000379002:D264H;ENSP00000426476:D264H	ENSP00000315743:D264H	D	+	1	0	CCNG2	78304535	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	3.441000	0.52893	2.701000	0.92244	0.561000	0.74099	GAT		0.438	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		C	78085511	G	C	78085511	3	2	81	1	0	0	0	0	1	0	0	0	2924	942	33	3	812	3	CCNG2	4	78085511	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	24593149	78085511	113068765	16	4216											
FAM13A	10144	hgsc.bcm.edu	37	4	89671058	89671058	+	Missense_Mutation	SNP	C	C	T	rs114727657	byFrequency	TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr4:89671058C>T	ENST00000264344.5	-	16	2150	c.1943G>A	c.(1942-1944)cGg>cAg	p.R648Q	FAM13A_ENST00000513837.1_Missense_Mutation_p.R294Q|FAM13A_ENST00000511976.1_Missense_Mutation_p.R234Q|FAM13A_ENST00000508369.1_Missense_Mutation_p.R322Q|FAM13A_ENST00000395002.2_Missense_Mutation_p.R322Q|FAM13A_ENST00000503556.1_Missense_Mutation_p.R308Q	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	648					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R648Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGAGCTTCGCCGCCTGTGAAG	0.572													C|||	2	0.000399361	0	0	5008	,	,		17001	0.002		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4						C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	62	60	61		965,1943	3.9	0.8	4	dbSNP_132	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	FAM13A	NM_001015045.1,NM_014883.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	322/698,648/1024	89671058	1,13005	2203	4300	6503	89890081	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1943G>A	4.37:g.89671058C>T	ENSP00000264344:p.Arg648Gln		89890081	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	14.48	2.548762	0.45383	0.0	1.16E-4	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.46451	0.87;2.14;1.45;1.48;1.45;1.46	5.64	3.93	0.45458	.	0.159954	0.53938	N	0.000047	T	0.32285	0.0824	L	0.54323	1.7	0.80722	D	1	B;B;P;B;B;B;B	0.36249	0.316;0.392;0.545;0.4;0.392;0.266;0.316	B;B;B;B;B;B;B	0.26614	0.054;0.071;0.039;0.032;0.071;0.039;0.054	T	0.07385	-1.0775	10	0.21540	T	0.41	.	12.0744	0.53634	0.0:0.8629:0.0:0.1371	.	294;327;234;648;322;308;322	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	Q	322;648;308;234;322;294	ENSP00000378450:R322Q;ENSP00000264344:R648Q;ENSP00000427189:R308Q;ENSP00000421914:R234Q;ENSP00000421562:R322Q;ENSP00000423252:R294Q	ENSP00000264344:R648Q	R	-	2	0	FAM13A	89890081	0.980000	0.34600	0.761000	0.31378	0.870000	0.49936	2.541000	0.45735	0.943000	0.37553	0.650000	0.86243	CGG		0.572	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			T	89671058	C	T	89671058	3	4	81	1	0	0	0	0	1	0	0	0	5452	652	23	1	1164	1	FAM13A	4	89671058	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	11585547	89671058	101483218	17	4217											
SYNPO2	171024	hgsc.bcm.edu	37	4	119948253	119948253	+	Silent	SNP	G	G	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr4:119948253G>A	ENST00000429713.2	+	3	911	c.729G>A	c.(727-729)tcG>tcA	p.S243S	SYNPO2_ENST00000307142.4_Silent_p.S243S|SYNPO2_ENST00000434046.2_Silent_p.S243S|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	243						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.S243S(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACATAAATTCGATCCCTACTA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	4											50	54	53					4																	119948253		2203	4300	6503	120167701	SO:0001819	synonymous_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.729G>A	4.37:g.119948253G>A			120167701	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300920	0.01364	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.26	-10.5	0.00291	.	.	.	.	.	T	0.14184	0.0343	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.09079	-1.0691	4	.	.	.	-4.6186	1.8079	0.03084	0.2446:0.0889:0.2981:0.3684	.	.	.	.	N	195	.	.	D	+	1	0	SYNPO2	120167701	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.816000	0.04477	-2.885000	0.00317	-1.113000	0.02065	GAT		0.493	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			A	119948253	G	A	119948253	2	1	81	1	0	0	0	0	0	0	0	1	15457	1045	37	1		1	SYNPO2	4	119948253	Silent	SNP	G	TCGA-13-0762-01A-01W-0370-10	30277195	119948253	71206023	18	4218											
KIF2A	3796	hgsc.bcm.edu	37	5	61676951	61676951	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr5:61676951A>G	ENST00000401507.3	+	19	2217	c.1906A>G	c.(1906-1908)Att>Gtt	p.I636V	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.I590V|KIF2A_ENST00000381103.2_Missense_Mutation_p.I616V|KIF2A_ENST00000407818.3_Missense_Mutation_p.I674V	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	636					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.I609V(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GTAGGAATCTATTCGGTGGTT	0.333																																																1	Substitution - Missense(1)	ovary(1)	5											97	106	103					5																	61676951		2203	4300	6503	61712708	SO:0001583	missense	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1906A>G	5.37:g.61676951A>G	ENSP00000385622:p.Ile636Val		61712708	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178957	0.38511	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	T;T;T;T	0.73469	-0.59;-0.59;-0.75;-0.59	5.87	4.7	0.59300	.	0.049518	0.85682	D	0.000000	T	0.62282	0.2415	N	0.22421	0.69	0.58432	D	0.999997	B;B;B;B	0.17038	0.012;0.02;0.016;0.003	B;B;B;B	0.26517	0.032;0.07;0.009;0.009	T	0.55205	-0.8177	10	0.31617	T	0.26	.	12.4022	0.55420	0.8739:0.0:0.0:0.1261	.	674;674;636;616	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	V	636;616;674;590	ENSP00000385622:I636V;ENSP00000370493:I616V;ENSP00000385000:I674V;ENSP00000423772:I590V	ENSP00000370493:I616V	I	+	1	0	KIF2A	61712708	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.131000	0.77243	1.019000	0.39547	0.533000	0.62120	ATT		0.333	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		G	61676951	A	G	61676951	3	3	81	1	0	0	0	0	1	0	0	0	8297	449	16	4	2098	4	KIF2A	5	61676951	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10		61676951	119238309	19	4219											
CMYA5	202333	hgsc.bcm.edu	37	5	79034473	79034473	+	Silent	SNP	G	G	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr5:79034473G>C	ENST00000446378.2	+	2	9916	c.9885G>C	c.(9883-9885)ctG>ctC	p.L3295L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3295					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.L3295L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAGTCTGGAAGAACAGA	0.463																																																1	Substitution - coding silent(1)	ovary(1)	5											124	121	122					5																	79034473		1933	4146	6079	79070229	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9885G>C	5.37:g.79034473G>C			79070229	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.463	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79034473	G	C	79034473	2	2	81	1	0	0	0	0	0	0	0	1	3590	1335	47	3		3	CMYA5	5	79034473	Silent	SNP	G	TCGA-13-0762-01A-01W-0370-10	17357522	79034473	101880787	20	4220											
DNAJC18	202052	hgsc.bcm.edu	37	5	138773237	138773237	+	Silent	SNP	G	G	A	rs200798738		TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr5:138773237G>A	ENST00000302060.5	-	2	131	c.51C>T	c.(49-51)gaC>gaT	p.D17D		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	17						integral component of membrane (GO:0016021)		p.D17D(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTAACTGCGTCAATGTAAG	0.483																																																1	Substitution - coding silent(1)	ovary(1)	5						A		1,4405	826.1+/-416.6	0,1,2202	143	130	135		51	3	1	5		135	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	DNAJC18	NM_152686.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		17/359	138773237	2,13004	2203	4300	6503	138801136	SO:0001819	synonymous_variant	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"Heat shock proteins / DNAJ (HSP40)"	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.51C>T	5.37:g.138773237G>A			138801136		Silent	SNP	ENST00000302060.5	37	CCDS4214.1																																																																																				0.483	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		A	138773237	G	A	138773237	2	1	81	1	0	0	0	0	0	0	0	1	4637	1136	40	1		1	DNAJC18	5	138773237	Silent	SNP	G	TCGA-13-0762-01A-01W-0370-10	59738764	138773237	42142023	21	4221											
CROT	54677	hgsc.bcm.edu	37	7	87011450	87011450	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr7:87011450A>G	ENST00000331536.3	+	12	1308	c.1123A>G	c.(1123-1125)Aaa>Gaa	p.K375E	CROT_ENST00000442291.1_Missense_Mutation_p.K375E|CROT_ENST00000419147.2_Missense_Mutation_p.K403E	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	375					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.K375E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGTGGATGAGAAAGTTTTAAA	0.318																																																1	Substitution - Missense(1)	ovary(1)	7											68	69	68					7																	87011450		2203	4298	6501	86849386	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1123A>G	7.37:g.87011450A>G	ENSP00000331981:p.Lys375Glu		86849386	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	A	9.246	1.039426	0.19669	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88586	-2.4;-2.4;-2.4	5.3	5.3	0.74995	.	0.095061	0.64402	D	0.000001	T	0.80813	0.4695	N	0.25647	0.755	0.49130	D	0.999753	B;B	0.21452	0.056;0.028	B;B	0.23419	0.046;0.013	T	0.74618	-0.3605	10	0.02654	T	1	-27.0211	15.5342	0.75990	1.0:0.0:0.0:0.0	.	403;375	E7EQF2;Q9UKG9	.;OCTC_HUMAN	E	403;375;375	ENSP00000413575:K403E;ENSP00000331981:K375E;ENSP00000411983:K375E	ENSP00000331981:K375E	K	+	1	0	CROT	86849386	1.000000	0.71417	0.992000	0.48379	0.386000	0.30323	6.767000	0.74975	2.134000	0.65973	0.383000	0.25322	AAA		0.318	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		G	87011450	A	G	87011450	3	3	81	1	0	0	0	0	1	0	0	0	3894	247	9	4	1249	4	CROT	7	87011450	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10		87011450	72127213	22	4222											
MUC17	140453	hgsc.bcm.edu	37	7	100679043	100679043	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr7:100679043C>G	ENST00000306151.4	+	3	4410	c.4346C>G	c.(4345-4347)aCt>aGt	p.T1449S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1449	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T1449S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCTCAACTCCTAGTGAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	7											205	222	216					7																	100679043		2203	4300	6503	100465763	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4346C>G	7.37:g.100679043C>G	ENSP00000302716:p.Thr1449Ser		100465763	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.742	-0.491508	0.04322	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	1.08	1.08	0.20341	.	.	.	.	.	T	0.01905	0.0060	N	0.19112	0.55	0.09310	N	1	B	0.20459	0.045	B	0.11329	0.006	T	0.48456	-0.9034	9	0.18276	T	0.48	.	5.6532	0.17629	0.0:1.0:0.0:0.0	.	1449	Q685J3	MUC17_HUMAN	S	1449	ENSP00000302716:T1449S	ENSP00000302716:T1449S	T	+	2	0	MUC17	100465763	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.135000	0.15952	0.934000	0.37316	0.134000	0.15878	ACT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679043	C	G	100679043	3	3	81	1	0	0	0	0	1	0	0	0	9974	565	20	3	4356	3	MUC17	7	100679043	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	13667593	100679043	58459620	23	4223											
RELN	5649	hgsc.bcm.edu	37	7	103276880	103276880	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr7:103276880A>G	ENST00000428762.1	-	18	2264	c.2105T>C	c.(2104-2106)aTg>aCg	p.M702T	RELN_ENST00000343529.5_Missense_Mutation_p.M702T|RELN_ENST00000424685.2_Missense_Mutation_p.M702T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	702					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.M702T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGGATGCCATCTCACAAGC	0.433																																					NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - Missense(1)	ovary(1)	7											44	47	46					7																	103276880		2203	4300	6503	103064116	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2105T>C	7.37:g.103276880A>G	ENSP00000392423:p.Met702Thr		103064116	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	8.820	0.937447	0.18206	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.07216	3.21;3.21;3.21	5.76	5.76	0.90799	.	0.102069	0.64402	D	0.000001	T	0.06325	0.0163	N	0.19112	0.55	0.37401	D	0.912838	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38134	-0.9675	10	0.27082	T	0.32	.	11.962	0.53013	0.9305:0.0:0.0695:0.0	.	702;702	P78509-2;P78509	.;RELN_HUMAN	T	702	ENSP00000392423:M702T;ENSP00000345694:M702T;ENSP00000388446:M702T	ENSP00000345694:M702T	M	-	2	0	RELN	103064116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.803000	0.47924	2.197000	0.70478	0.482000	0.46254	ATG		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103276880	A	G	103276880	3	3	81	1	0	0	0	0	1	0	0	0	13223	217	8	4	8469	4	RELN	7	103276880	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10	2597837	103276880	55861783	24	4224											
CADPS2	93664	hgsc.bcm.edu	37	7	122269374	122269374	+	Silent	SNP	G	G	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr7:122269374G>A	ENST00000449022.2	-	4	814	c.795C>T	c.(793-795)aaC>aaT	p.N265N	CADPS2_ENST00000412584.2_Silent_p.N265N|CADPS2_ENST00000313070.7_Silent_p.N265N|CADPS2_ENST00000334010.7_Silent_p.N265N	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	265					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.N265N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTTCATCTGCGTTATCCAGCT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	7											63	58	60					7																	122269374		1863	4100	5963	122056610	SO:0001819	synonymous_variant	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.795C>T	7.37:g.122269374G>A			122056610	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	CCDS55158.1																																																																																				0.398	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		A	122269374	G	A	122269374	2	1	81	1	0	0	0	0	0	0	0	1	2571	1136	40	1		1	CADPS2	7	122269374	Silent	SNP	G	TCGA-13-0762-01A-01W-0370-10	18992494	122269374	36869289	25	4225											
C8orf4	56892	hgsc.bcm.edu	37	8	40011118	40011118	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr8:40011118C>T	ENST00000315792.3	+	1	130	c.67C>T	c.(67-69)Cat>Tat	p.H23Y		NM_020130.4	NP_064515	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	23					apoptotic process (GO:0006915)			p.H23Y(1)		breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CCCATCCATCCATGGCTACCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	8											119	94	103					8																	40011118		2203	4300	6503	40130275	SO:0001583	missense	56892			AF268037	CCDS6115.1	8p11.2	2014-07-11			ENSG00000176907	ENSG00000176907			1357	protein-coding gene	gene with protein product	"human thyroid cancer 1"	607702				11056052, 24937306	Standard	NM_020130		Approved	TC-1, hTC-1	uc003xnq.2	Q9NR00	OTTHUMG00000164045	ENST00000315792.3:c.67C>T	8.37:g.40011118C>T	ENSP00000319914:p.His23Tyr		40130275		Missense_Mutation	SNP	ENST00000315792.3	37	CCDS6115.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333327	0.60853	.	.	ENSG00000176907	ENST00000315792	T	0.32988	1.43	6.08	6.08	0.98989	.	0.130080	0.64402	D	0.000001	T	0.36110	0.0955	L	0.50333	1.59	0.58432	D	0.999999	P	0.51537	0.946	B	0.43018	0.405	T	0.13926	-1.0491	10	0.87932	D	0	-12.0007	19.6529	0.95825	0.0:1.0:0.0:0.0	.	23	Q9NR00	CH004_HUMAN	Y	23	ENSP00000319914:H23Y	ENSP00000319914:H23Y	H	+	1	0	C8orf4	40130275	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.184000	0.58323	2.890000	0.99128	0.655000	0.94253	CAT		0.517	C8orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376943.1	NM_020130		T	40011118	C	T	40011118	3	4	81	1	0	0	0	0	1	0	0	0	2425	594	21	2	69	2	C8orf4	8	40011118	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10		40011118	106352904	26	4226											
PRKDC	5591	hgsc.bcm.edu	37	8	48794060	48794060	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr8:48794060T>G	ENST00000314191.2	-	39	5037	c.4981A>C	c.(4981-4983)Aat>Cat	p.N1661H	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.N1661H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1662					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.N1662H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGACTTGTATTAAAAGATACA	0.313								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											1	Substitution - Missense(1)	ovary(1)	8											44	43	43					8																	48794060		1818	4062	5880	48956613	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4981A>C	8.37:g.48794060T>G	ENSP00000313420:p.Asn1661His		48956613	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	15.39	2.820295	0.50633	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65364	-0.15;-0.15	5.43	4.28	0.50868	Armadillo-like helical (1);Armadillo-type fold (1);	0.244417	0.40640	N	0.001041	T	0.65575	0.2704	M	0.65975	2.015	0.34965	D	0.752559	D;D	0.55385	0.971;0.971	P;P	0.50617	0.646;0.646	T	0.74940	-0.3493	10	0.66056	D	0.02	.	7.929	0.29891	0.0:0.1605:0.0:0.8395	.	1661;1662	E7EUY0;P78527	.;PRKDC_HUMAN	H	1661	ENSP00000313420:N1661H;ENSP00000345182:N1661H	ENSP00000313420:N1661H	N	-	1	0	PRKDC	48956613	1.000000	0.71417	0.787000	0.31911	0.598000	0.36846	2.036000	0.41165	0.914000	0.36822	0.523000	0.50628	AAT		0.313	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		G	48794060	T	G	48794060	3	3	81	1	0	0	0	0	1	0	0	0	12524	1754	61	5	7598	5	PRKDC	8	48794060	Missense_Mutation	SNP	T	TCGA-13-0762-01A-01W-0370-10	8782942	48794060	97569962	27	4227											
CDH17	1015	hgsc.bcm.edu	37	8	95158222	95158222	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr8:95158222G>T	ENST00000027335.3	-	15	2225	c.2101C>A	c.(2101-2103)Ccc>Acc	p.P701T	CDH17_ENST00000441892.2_Missense_Mutation_p.P487T|CDH17_ENST00000450165.2_Missense_Mutation_p.P701T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	701	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.P701T(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTAAAATGGGGACCCCGAAAT	0.453																																																1	Substitution - Missense(1)	ovary(1)	8											96	90	92					8																	95158222		2203	4300	6503	95227398	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2101C>A	8.37:g.95158222G>T	ENSP00000027335:p.Pro701Thr		95227398	Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	9.260	1.043083	0.19748	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.37752	1.18;1.18;1.18	5.9	3.13	0.36017	Cadherin (1);Cadherin-like (1);	1.138720	0.06577	N	0.749524	T	0.39600	0.1084	M	0.76433	2.335	0.09310	N	1	B;P	0.42409	0.291;0.779	B;B	0.39299	0.058;0.296	T	0.25916	-1.0118	10	0.21540	T	0.41	1.4625	9.0703	0.36488	0.2347:0.0:0.7653:0.0	.	487;701	E7EN24;Q12864	.;CAD17_HUMAN	T	701;487;701	ENSP00000027335:P701T;ENSP00000392811:P487T;ENSP00000401468:P701T	ENSP00000027335:P701T	P	-	1	0	CDH17	95227398	0.019000	0.18553	0.019000	0.16419	0.672000	0.39443	1.210000	0.32370	0.831000	0.34780	0.563000	0.77884	CCC		0.453	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		T	95158222	G	T	95158222	3	4	81	1	0	0	0	0	1	0	0	0	3102	1174	41	3	413	3	CDH17	8	95158222	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	46364162	95158222	51205800	28	4228											
ODF1	4956	hgsc.bcm.edu	37	8	103572733	103572733	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr8:103572733T>C	ENST00000285402.3	+	2	530	c.374T>C	c.(373-375)aTt>aCt	p.I125T	ODF1_ENST00000518835.1_5'UTR	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	125					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.I125T(1)|p.S123fs*9(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCAGTAACATTTTAGGATCG	0.473																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|NS(1)	8											134	124	127					8																	103572733		2203	4300	6503	103641909	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.374T>C	8.37:g.103572733T>C	ENSP00000285402:p.Ile125Thr		103641909	Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.789965	0.50102	.	.	ENSG00000155087	ENST00000285402	T	0.34072	1.38	5.8	5.8	0.92144	Heat shock protein Hsp20 (1);	0.254839	0.28612	N	0.014724	T	0.22513	0.0543	N	0.08118	0	0.80722	D	1	B	0.28801	0.223	B	0.31016	0.123	T	0.11518	-1.0584	10	0.59425	D	0.04	-15.7754	12.5275	0.56096	0.0:0.0:0.0:1.0	.	125	Q14990	ODFP1_HUMAN	T	125	ENSP00000285402:I125T	ENSP00000285402:I125T	I	+	2	0	ODF1	103641909	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	3.851000	0.55926	2.212000	0.71576	0.528000	0.53228	ATT		0.473	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			C	103572733	T	C	103572733	3	2	81	1	0	0	0	0	1	0	0	0	10826	1493	52	4	380	4	ODF1	8	103572733	Missense_Mutation	SNP	T	TCGA-13-0762-01A-01W-0370-10	8414511	103572733	42791289	29	4229											
PRSS3	5646	hgsc.bcm.edu	37	9	33799033	33799033	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr9:33799033C>T	ENST00000361005.5	+	5	770	c.770C>T	c.(769-771)tCt>tTt	p.S257F	PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000379405.3_Missense_Mutation_p.S200F|PRSS3_ENST00000429677.3_Missense_Mutation_p.S193F|PRSS3_ENST00000342836.4_Missense_Mutation_p.S214F|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	257	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S200F(1)		large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CAGCGTGACTCTGGTGGCCCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	9											85	83	84					9																	33799033		2203	4300	6503	33789033	SO:0001583	missense	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.770C>T	9.37:g.33799033C>T	ENSP00000354280:p.Ser257Phe		33789033	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461656	0.63513	.	.	ENSG00000010438	ENST00000361005;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13	3.45	3.45	0.39498	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	H	0.98111	4.15	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98908	1.0779	10	0.87932	D	0	.	13.2298	0.59936	0.0:1.0:0.0:0.0	.	200;257;214	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	F	257;214;193;200	ENSP00000354280:S257F;ENSP00000340889:S214F;ENSP00000401828:S193F;ENSP00000368715:S200F	ENSP00000340889:S214F	S	+	2	0	PRSS3	33789033	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	5.159000	0.64923	1.892000	0.54788	0.306000	0.20318	TCT		0.527	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		T	33799033	C	T	33799033	3	4	81	1	0	0	0	0	1	0	0	0	12625	913	32	2	832	2	PRSS3	9	33799033	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10		33799033	107414398	30	4230											
OLFML2A	169611	hgsc.bcm.edu	37	9	127557314	127557314	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr9:127557314G>A	ENST00000373580.3	+	3	366	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	122					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.M122I(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGCAGTCCATGGTGGATCTCC	0.572																																																1	Substitution - Missense(1)	ovary(1)	9											21	23	22					9																	127557314		2023	4169	6192	126597135	SO:0001583	missense	169611			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.366G>A	9.37:g.127557314G>A	ENSP00000362682:p.Met122Ile		126597135	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	6.787	0.514190	0.12944	.	.	ENSG00000185585	ENST00000373580	T	0.39056	1.1	4.97	4.05	0.47172	.	0.089861	0.85682	N	0.000000	T	0.27900	0.0687	L	0.36672	1.1	0.80722	D	1	B	0.31581	0.329	B	0.27887	0.084	T	0.08953	-1.0697	10	0.02654	T	1	.	13.9144	0.63887	0.0:0.0:0.846:0.154	.	122	Q68BL7	OLM2A_HUMAN	I	122	ENSP00000362682:M122I	ENSP00000362682:M122I	M	+	3	0	OLFML2A	126597135	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.305000	0.65750	1.360000	0.45960	0.563000	0.77884	ATG		0.572	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		A	127557314	G	A	127557314	3	1	81	1	0	0	0	0	1	0	0	0	10857	1348	47	2	376	2	OLFML2A	9	127557314	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	93758281	127557314	13656117	31	4231											
FAM78A	286336	hgsc.bcm.edu	37	9	134136565	134136565	+	Missense_Mutation	SNP	C	C	T	rs137934281		TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr9:134136565C>T	ENST00000372271.3	-	2	863	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	FAM78A_ENST00000372269.3_Missense_Mutation_p.V163I|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	166								p.V166I(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GCCCATGTGACGCTGGGGTAA	0.592																																																1	Substitution - Missense(1)	ovary(1)	9						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	130	119	123		496	4.8	1	9	dbSNP_134	123	0,8600		0,0,4300	no	missense	FAM78A	NM_033387.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	166/284	134136565	1,13005	2203	4300	6503	133126386	SO:0001583	missense	286336			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.496G>A	9.37:g.134136565C>T	ENSP00000361345:p.Val166Ile		133126386	Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903158	0.92035	2.27E-4	0.0	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.75777	2.31	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73380	0.98;0.979	T	0.79344	-0.1842	9	0.45353	T	0.12	-57.7356	17.1064	0.86664	0.0:1.0:0.0:0.0	.	166;163	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	I	163;166;135	.	ENSP00000361343:V163I	V	-	1	0	FAM78A	133126386	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.776000	0.85560	2.337000	0.79520	0.462000	0.41574	GTC		0.592	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		T	134136565	C	T	134136565	3	4	81	1	0	0	0	0	1	0	0	0	5626	536	19	1	359	1	FAM78A	9	134136565	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	6579251	134136565	7076866	32	4232											
GRID1	2894	hgsc.bcm.edu	37	10	87484287	87484287	+	Silent	SNP	T	T	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr10:87484287T>C	ENST00000327946.7	-	11	1765	c.1680A>G	c.(1678-1680)ccA>ccG	p.P560P	GRID1_ENST00000536331.1_Silent_p.P131P	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	560					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.P560P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CGAAATCAAATGGAGCAAAGA	0.498										Multiple Myeloma(13;0.14)																																						1	Substitution - coding silent(1)	ovary(1)	10											88	79	82					10																	87484287		2203	4300	6503	87474267	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1680A>G	10.37:g.87484287T>C			87474267	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																				0.498	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		C	87484287	T	C	87484287	2	2	81	1	0	0	0	0	0	0	0	1	6771	1451	51	4		4	GRID1	10	87484287	Silent	SNP	T	TCGA-13-0762-01A-01W-0370-10		87484287	48050460	33	4233											
CASP7	840	hgsc.bcm.edu	37	10	115489258	115489258	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr10:115489258G>T	ENST00000345633.4	+	8	1255	c.871G>T	c.(871-873)Gtg>Ttg	p.V291L	CASP7_ENST00000369331.4_3'UTR|CASP7_ENST00000369321.2_Missense_Mutation_p.V324L|CASP7_ENST00000452490.2_Missense_Mutation_p.V266L|CASP7_ENST00000369318.3_Missense_Mutation_p.V291L|CASP7_ENST00000369315.1_Missense_Mutation_p.V291L	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	291					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.V324L(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GATCCCCTGTGTGGTCTCCAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											125	115	119					10																	115489258		2203	4300	6503	115479248	SO:0001583	missense	840			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.871G>T	10.37:g.115489258G>T	ENSP00000298701:p.Val291Leu		115479248	B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	CCDS7581.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058706	0.55325	.	.	ENSG00000165806	ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369315;ENST00000452490	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.85	1.42	0.22433	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.235823	0.43110	D	0.000606	T	0.13586	0.0329	L	0.46947	1.48	0.51233	D	0.999914	B;B;B;B	0.26483	0.036;0.032;0.15;0.062	B;B;B;B	0.22753	0.022;0.034;0.035;0.041	T	0.08006	-1.0743	10	0.54805	T	0.06	.	7.8626	0.29517	0.2273:0.1223:0.6505:0.0	.	266;299;324;291	B4DQU7;B4DWA2;P55210-3;P55210	.;.;.;CASP7_HUMAN	L	324;291;291;252;291;266	ENSP00000358327:V324L;ENSP00000298701:V291L;ENSP00000358324:V291L;ENSP00000358321:V291L;ENSP00000398107:V266L	ENSP00000298701:V291L	V	+	1	0	CASP7	115479248	0.613000	0.27009	0.800000	0.32199	0.962000	0.63368	0.938000	0.28965	0.792000	0.33850	0.655000	0.94253	GTG		0.468	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		T	115489258	G	T	115489258	3	4	81	1	0	0	0	0	1	0	0	0	2676	1377	48	3	1074	3	CASP7	10	115489258	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	28004971	115489258	20045489	34	4234											
INSC	387755	hgsc.bcm.edu	37	11	15134022	15134022	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr11:15134022C>T	ENST00000379554.3	+	1	53	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	INSC_ENST00000379556.3_5'Flank|INSC_ENST00000424273.1_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	3					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.R3W(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGCCATGAGACGGCCCCCTGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	11											48	59	55					11																	15134022		1952	4123	6075	15090598	SO:0001583	missense	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.7C>T	11.37:g.15134022C>T	ENSP00000368872:p.Arg3Trp		15090598	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143100	0.21205	.	.	ENSG00000188487	ENST00000379554	T	0.37235	1.21	4.07	2.07	0.26955	.	.	.	.	.	T	0.22475	0.0542	N	0.08118	0	0.80722	D	1	D	0.59767	0.986	P	0.47102	0.537	T	0.05869	-1.0859	9	0.72032	D	0.01	-15.3977	8.7581	0.34658	0.4471:0.5529:0.0:0.0	.	3	Q1MX18	INSC_HUMAN	W	3	ENSP00000368872:R3W	ENSP00000368872:R3W	R	+	1	2	INSC	15090598	0.359000	0.24955	0.964000	0.40570	0.134000	0.20937	-0.460000	0.06720	0.592000	0.29728	0.561000	0.74099	CGG		0.627	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		T	15134022	C	T	15134022	3	4	81	1	0	0	0	0	1	0	0	0	7764	527	19	1	9	1	INSC	11	15134022	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10		15134022	119872494	35	4235											
ZW10	9183	hgsc.bcm.edu	37	11	113610105	113610105	+	Splice_Site	SNP	C	C	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr11:113610105C>G	ENST00000200135.3	-	12	1728		c.e12-1			NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein						ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.?(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AAGGTTCTCCCTAGGCCAGAA	0.443																																																1	Unknown(1)	ovary(1)	11											88	81	83					11																	113610105		2201	4296	6497	113115315	SO:0001630	splice_region_variant	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1584-1G>C	11.37:g.113610105C>G			113115315	A1A528	Splice_Site	SNP	ENST00000200135.3	37	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004953	0.74932	.	.	ENSG00000086827	ENST00000200135	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.813	0.96554	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZW10	113115315	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	7.487000	0.81328	2.683000	0.91414	0.591000	0.81541	.		0.443	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724	Intron	G	113610105	C	G	113610105	5	3	81	1	0	0	0	0	0	0	1	0	18247	695	24	3	776	3	ZW10	11	113610105	Splice_Site	SNP	C	TCGA-13-0762-01A-01W-0370-10	98476083	113610105	21396411	36	4236											
OR8B12	219858	hgsc.bcm.edu	37	11	124412940	124412940	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr11:124412940A>G	ENST00000306842.2	-	1	635	c.611T>C	c.(610-612)gTt>gCt	p.V204A		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V204A(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TCCAACGTCAACAGCCACCAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											99	77	85					11																	124412940		2201	4299	6500	123918150	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.611T>C	11.37:g.124412940A>G	ENSP00000307159:p.Val204Ala		123918150	B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	A	2.483	-0.319245	0.05386	.	.	ENSG00000170953	ENST00000306842	T	0.38722	1.12	3.89	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.619950	0.15089	N	0.281212	T	0.27384	0.0672	L	0.28054	0.825	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.20706	-1.0267	10	0.66056	D	0.02	.	5.3493	0.16026	0.6392:0.0:0.3608:0.0	.	204	Q8NGG6	OR8BC_HUMAN	A	204	ENSP00000307159:V204A	ENSP00000307159:V204A	V	-	2	0	OR8B12	123918150	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.249000	0.08842	0.791000	0.33826	0.528000	0.53228	GTT		0.453	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			G	124412940	A	G	124412940	3	3	81	1	0	0	0	0	1	0	0	0	11226	43	2	4	323	4	OR8B12	11	124412940	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10	10802835	124412940	10593576	37	4237											
CACNA1C	775	hgsc.bcm.edu	37	12	2760846	2760846	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr12:2760846G>T	ENST00000347598.4	+	34	4130	c.4130G>T	c.(4129-4131)cGc>cTc	p.R1377L	CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1357L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1346L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1329L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1351L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1349L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1318L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1329L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1354L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1316L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1318L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1329L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1329L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1377					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R864L(1)|p.R1407L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTTCTTCCGCCTGTTCCGG	0.607																																																2	Substitution - Missense(2)	ovary(2)	12											78	91	86					12																	2760846		2200	4300	6500	2631107	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4130G>T	12.37:g.2760846G>T	ENSP00000266376:p.Arg1377Leu		2631107	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422344	0.96111	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	5.17	5.17	0.71159	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.96805	3.885	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.998;0.998;0.999;0.998;0.995;0.999;0.998;0.999;0.986;0.998;0.999;0.998;0.997;1.0;0.999;0.974;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D	0.91635	0.999;0.993;0.997;0.995;0.993;0.997;0.997;0.998;0.981;0.977;0.997;0.997;0.922;0.998;0.997;0.999;0.986;0.991;0.997;0.82;0.997;0.997;0.997;0.997;0.997	D	0.98512	1.0619	10	0.87932	D	0	.	18.6538	0.91441	0.0:0.0:1.0:0.0	.	20;1351;1326;1377;1329;1329;1329;1346;1357;1329;1349;1329;1289;1377;1329;1329;1329;1318;1316;1318;1318;1329;1329;1329;1329	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	1354;1329;1329;1357;1329;1329;1329;1318;1329;1377;1349;1329;1351;1346;1329;1316;1329;1329;1329;1329;1329;1318;1159	ENSP00000336982:R1354L;ENSP00000382563:R1329L;ENSP00000382552:R1329L;ENSP00000382547:R1357L;ENSP00000382506:R1329L;ENSP00000382530:R1329L;ENSP00000382546:R1329L;ENSP00000382500:R1318L;ENSP00000382549:R1329L;ENSP00000266376:R1377L;ENSP00000382515:R1349L;ENSP00000382510:R1329L;ENSP00000341092:R1351L;ENSP00000382537:R1346L;ENSP00000329877:R1329L;ENSP00000382557:R1316L;ENSP00000385724:R1329L;ENSP00000382512:R1329L;ENSP00000382542:R1329L;ENSP00000382526:R1329L;ENSP00000385896:R1329L;ENSP00000382504:R1318L	ENSP00000323129:R1159L	R	+	2	0	CACNA1C	2631107	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.805000	0.99149	2.412000	0.81896	0.491000	0.48974	CGC		0.607	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2760846	G	T	2760846	3	4	81	1	0	0	0	0	1	0	0	0	2540	1087	38	3	4438	3	CACNA1C	12	2760846	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10		2760846	131091049	38	4238											
CLEC4C	170482	hgsc.bcm.edu	37	12	7894105	7894105	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr12:7894105G>C	ENST00000542353.1	-	4	637	c.147C>G	c.(145-147)agC>agG	p.S49R	CLEC4C_ENST00000354629.5_Missense_Mutation_p.S18R|CLEC4C_ENST00000540085.1_Missense_Mutation_p.S18R|CLEC4C_ENST00000360345.3_Missense_Mutation_p.S49R	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	49					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S49R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TGACAGTTTTGCTATACATAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	12											154	132	139					12																	7894105		2203	4300	6503	7785372	SO:0001583	missense	170482			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.147C>G	12.37:g.7894105G>C	ENSP00000440428:p.Ser49Arg		7785372	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	G	5.043	0.193538	0.09599	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02280	4.41;4.36;4.36;4.41	1.61	1.61	0.23674	.	.	.	.	.	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	P;D	0.71674	0.946;0.998	B;P	0.62649	0.361;0.905	T	0.53251	-0.8465	9	0.16420	T	0.52	.	6.6803	0.23117	0.0:0.0:1.0:0.0	.	18;49	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	R	49;18;18;49	ENSP00000440428:S49R;ENSP00000346648:S18R;ENSP00000445338:S18R;ENSP00000353500:S49R	ENSP00000346648:S18R	S	-	3	2	CLEC4C	7785372	0.098000	0.21812	0.036000	0.18154	0.046000	0.14306	0.382000	0.20635	1.193000	0.43086	0.514000	0.50259	AGC		0.413	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		C	7894105	G	C	7894105	3	2	81	1	0	0	0	0	1	0	0	0	3513	1310	46	3	510	3	CLEC4C	12	7894105	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	5133259	7894105	125957790	39	4239											
ABCD2	225	hgsc.bcm.edu	37	12	39979968	39979968	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr12:39979968A>T	ENST00000308666.3	-	7	1913	c.1778T>A	c.(1777-1779)gTt>gAt	p.V593D		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	593	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.V593D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTCTCTTTGAACTATGTGATA	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											165	140	149					12																	39979968		2203	4300	6503	38266235	SO:0001583	missense	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1778T>A	12.37:g.39979968A>T	ENSP00000310688:p.Val593Asp		38266235	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984950	0.74474	.	.	ENSG00000173208	ENST00000308666	D	0.99857	-7.22	4.63	4.63	0.57726	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000001	D	0.99822	0.9921	M	0.80746	2.51	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.96715	0.9528	9	.	.	.	-12.3638	14.3336	0.66574	1.0:0.0:0.0:0.0	.	593	Q9UBJ2	ABCD2_HUMAN	D	593	ENSP00000310688:V593D	.	V	-	2	0	ABCD2	38266235	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	8.576000	0.90770	1.840000	0.53500	0.402000	0.26972	GTT		0.338	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		T	39979968	A	T	39979968	3	4	81	1	0	0	0	0	1	0	0	0	61	43	2	5	460	5	ABCD2	12	39979968	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10	32085863	39979968	93871927	40	4240											
C12orf41	54934	hgsc.bcm.edu	37	12	49072884	49072884	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr12:49072884C>G	ENST00000420613.2	-	4	527	c.480G>C	c.(478-480)caG>caC	p.Q160H	KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000553086.1_Missense_Mutation_p.Q160H|KANSL2_ENST00000550347.1_Missense_Mutation_p.Q343H	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	160					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.Q160H(1)									CTCTCCATGTCTGATCCACAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	12											105	101	102					12																	49072884		2032	4203	6235	47359151	SO:0001583	missense	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.480G>C	12.37:g.49072884C>G	ENSP00000415436:p.Gln160His		47359151	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267430	0.80469	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550931	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.84206	0.5421	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.956	D	0.84829	0.0801	10	0.72032	D	0.01	-15.8215	12.3253	0.55007	0.0:0.9218:0.0:0.0782	.	343;160	F8VX10;Q9H9L4	.;CL041_HUMAN	H	343;160;160;97	ENSP00000449747:Q343H;ENSP00000415436:Q160H;ENSP00000448833:Q160H;ENSP00000448129:Q97H	ENSP00000415436:Q160H	Q	-	3	2	C12orf41	47359151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.166000	0.50785	2.767000	0.95098	0.563000	0.77884	CAG		0.473	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		G	49072884	C	G	49072884	3	3	81	1	0	0	0	0	1	0	0	0	1687	912	32	3	1026	3	C12orf41	12	49072884	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	9092916	49072884	84779011	41	4241											
NEUROD4	58158	hgsc.bcm.edu	37	12	55420443	55420443	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr12:55420443A>T	ENST00000242994.3	+	2	598	c.220A>T	c.(220-222)Aaa>Taa	p.K74*		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	74					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K74*(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGGTCCCAAGAAAAAGAAGAT	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	12											56	53	54					12																	55420443		2203	4300	6503	53706710	SO:0001587	stop_gained	58158			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.220A>T	12.37:g.55420443A>T	ENSP00000242994:p.Lys74*		53706710	B2RAC9	Nonsense_Mutation	SNP	ENST00000242994.3	37	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	A	39	7.578908	0.98371	.	.	ENSG00000123307	ENST00000242994	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8693	13.6467	0.62286	1.0:0.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000242994:K74X	K	+	1	0	NEUROD4	53706710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.168000	0.68352	0.533000	0.62120	AAA		0.493	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			T	55420443	A	T	55420443	4	4	81	1	0	0	0	0	0	1	0	0	10350	247	9	5	222	5	NEUROD4	12	55420443	Nonsense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10	6347559	55420443	78431452	42	4242											
BBS10	79738	hgsc.bcm.edu	37	12	76740392	76740392	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr12:76740392G>C	ENST00000393262.3	-	2	1456	c.1373C>G	c.(1372-1374)cCa>cGa	p.P458R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	458					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.P458R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ACCAGGATCTGGTGCTTGATA	0.343									Bardet-Biedl syndrome																																							1	Substitution - Missense(1)	ovary(1)	12											85	90	88					12																	76740392		2203	4300	6503	75264523	SO:0001583	missense	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1373C>G	12.37:g.76740392G>C	ENSP00000376946:p.Pro458Arg		75264523	Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.387110	0.01194	.	.	ENSG00000179941	ENST00000393262	D	0.85629	-2.01	4.68	-0.403	0.12400	.	0.784648	0.11208	N	0.588025	T	0.76371	0.3978	M	0.62723	1.935	0.09310	N	1	B	0.21905	0.062	B	0.15870	0.014	T	0.58025	-0.7709	10	0.22109	T	0.4	0.0105	1.1495	0.01783	0.233:0.1241:0.3893:0.2536	.	458	Q8TAM1	BBS10_HUMAN	R	458	ENSP00000376946:P458R	ENSP00000376946:P458R	P	-	2	0	BBS10	75264523	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.322000	0.08007	0.029000	0.15352	-0.182000	0.12963	CCA		0.343	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		C	76740392	G	C	76740392	3	2	81	1	0	0	0	0	1	0	0	0	1336	1348	47	3	802	3	BBS10	12	76740392	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	21319949	76740392	57111503	43	4243											
MYBPC1	4604	hgsc.bcm.edu	37	12	102071130	102071130	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr12:102071130G>C	ENST00000550270.1	+	26	3046	c.3046G>C	c.(3046-3048)Gat>Cat	p.D1016H	MYBPC1_ENST00000541119.1_Missense_Mutation_p.D986H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D1016H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D1016H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.D1023H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D972H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D1023H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D998H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D985H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D984H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D1016H|MYBPC1_ENST00000549145.1_Missense_Mutation_p.D1029H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D998H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D979H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D899H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1016	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D1023H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCTCAGTGAGGATGCCACCAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	12											111	98	102					12																	102071130		2203	4300	6503	100595261	SO:0001583	missense	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.3046G>C	12.37:g.102071130G>C	ENSP00000449702:p.Asp1016His		100595261	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919785	0.73098	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.32	5.32	0.75619	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.135912	0.32719	N	0.005729	T	0.53769	0.1817	L	0.40543	1.245	0.45852	D	0.998713	B;P;B;B;B;B;P;B;P;B	0.38148	0.252;0.581;0.263;0.386;0.121;0.283;0.525;0.431;0.62;0.335	P;P;P;P;B;P;P;P;P;P	0.52514	0.604;0.701;0.608;0.485;0.372;0.555;0.576;0.701;0.52;0.468	T	0.55276	-0.8166	10	0.72032	D	0.01	.	18.9927	0.92800	0.0:0.0:1.0:0.0	.	979;986;1016;998;985;972;998;1016;1023;1023	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	H	972;1016;1016;1016;985;984;1023;1029;998;998;979;986;1023;899;1016	ENSP00000448175:D972H;ENSP00000400908:D1016H;ENSP00000388989:D1016H;ENSP00000353822:D1016H;ENSP00000376665:D985H;ENSP00000447362:D984H;ENSP00000354845:D1023H;ENSP00000447660:D1029H;ENSP00000447900:D998H;ENSP00000440034:D998H;ENSP00000446128:D979H;ENSP00000442847:D986H;ENSP00000354849:D1023H;ENSP00000447116:D899H;ENSP00000449702:D1016H	ENSP00000353822:D1016H	D	+	1	0	MYBPC1	100595261	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	2.694000	0.47035	2.480000	0.83734	0.650000	0.86243	GAT		0.458	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			C	102071130	G	C	102071130	3	2	81	1	0	0	0	0	1	0	0	0	10011	1174	41	3	3231	3	MYBPC1	12	102071130	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	25330738	102071130	31780765	44	4244											
CCDC64	92558	hgsc.bcm.edu	37	12	120436405	120436405	+	Silent	SNP	G	G	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr12:120436405G>A	ENST00000397558.2	+	2	510	c.510G>A	c.(508-510)ctG>ctA	p.L170L		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	170					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)	p.L170L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTCAGAGCTGGAGAGTGATG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	12											77	85	82					12																	120436405		2036	4185	6221	118920788	SO:0001819	synonymous_variant	92558			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.510G>A	12.37:g.120436405G>A			118920788	A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	CCDS41845.1																																																																																				0.512	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		A	120436405	G	A	120436405	2	1	81	1	0	0	0	0	0	0	0	1	2835	1335	47	2		2	CCDC64	12	120436405	Silent	SNP	G	TCGA-13-0762-01A-01W-0370-10	18365275	120436405	13415490	45	4245											
SPATA13	221178	hgsc.bcm.edu	37	13	24864949	24864949	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr13:24864949A>C	ENST00000382095.4	+	8	1539	c.1132A>C	c.(1132-1134)Aca>Cca	p.T378P	SPATA13_ENST00000343003.6_Missense_Mutation_p.T322P|SPATA13_ENST00000382108.3_Missense_Mutation_p.T1003P|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.T881P|SPATA13_ENST00000399949.2_Missense_Mutation_p.T300P|SPATA13_ENST00000424834.2_Missense_Mutation_p.T1003P|SPATA13_ENST00000409126.1_Missense_Mutation_p.T238P	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	378	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.T378P(1)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTTCCTGCTCACACCAGTGCA	0.572																																																1	Substitution - Missense(1)	ovary(1)	13											56	57	57					13																	24864949		2203	4300	6503	23762949	SO:0001583	missense	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1132A>C	13.37:g.24864949A>C	ENSP00000371527:p.Thr378Pro		23762949	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.1|26.1	4.701727|4.701727	0.88924|0.88924	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003	.|T;T;T;T;T;T	.|0.69040	.|-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84642|0.84642	0.5517|0.5517	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.998;1.0;0.998;0.997;0.999	D|D	0.87874|0.87874	0.2673|0.2673	5|10	.|0.72032	.|D	.|0.01	.|.	14.6948|14.6948	0.69113|0.69113	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|238;322;262;324;300;378	.|E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.|.;.;.;.;.;SPT13_HUMAN	P|P	1040|1003;378;276;324;300;238;322	.|ENSP00000371542:T1003P;ENSP00000371527:T378P;ENSP00000401605:T276P;ENSP00000382830:T300P;ENSP00000386471:T238P;ENSP00000343631:T322P	.|ENSP00000343631:T322P	H|T	+|+	2|1	0|0	SPATA13|SPATA13	23762949|23762949	1.000000|1.000000	0.71417|0.71417	0.793000|0.793000	0.32043|0.32043	0.965000|0.965000	0.64279|0.64279	8.853000|8.853000	0.92222|0.92222	2.077000|2.077000	0.62373|0.62373	0.454000|0.454000	0.30748|0.30748	CAC|ACA		0.572	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		C	24864949	A	C	24864949	3	2	81	1	0	0	0	0	1	0	0	0	15002	159	6	5	3037	5	SPATA13	13	24864949	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10		24864949	90304929	46	4246											
EXD2	55218	hgsc.bcm.edu	37	14	69701517	69701517	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr14:69701517A>C	ENST00000409018.3	+	5	946	c.818A>C	c.(817-819)gAc>gCc	p.D273A	EXD2_ENST00000449989.1_Missense_Mutation_p.D148A|EXD2_ENST00000409242.1_Missense_Mutation_p.D148A|EXD2_ENST00000312994.5_Missense_Mutation_p.D273A|EXD2_ENST00000409675.1_Missense_Mutation_p.D148A|EXD2_ENST00000409949.1_Missense_Mutation_p.D148A|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Missense_Mutation_p.D148A	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	273							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.D148A(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AAAAACGATGACCACAGTAGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	14											60	61	61					14																	69701517		2203	4300	6503	68771270	SO:0001583	missense	55218			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.818A>C	14.37:g.69701517A>C	ENSP00000387331:p.Asp273Ala		68771270	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	CCDS53902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.534|8.534	0.871633|0.871633	0.17322|0.17322	.|.	.|.	ENSG00000081177|ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989|ENST00000193422	T;T;T;T;T;T;T|.	0.62788|.	0.38;0.0;0.0;0.0;0.0;0.38;0.0|.	5.42|5.42	1.32|1.32	0.21799|0.21799	.|.	0.741885|.	0.13968|.	N|.	0.350358|.	T|.	0.19366|.	0.0465|.	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.003;0.004;0.002|.	B;B;B|.	0.17979|.	0.02;0.008;0.008|.	T|.	0.19418|.	-1.0306|.	10|.	0.29301|.	T|.	0.29|.	-7.2338|-7.2338	0.5136|0.5136	0.00599|0.00599	0.4048:0.2313:0.1876:0.1764|0.4048:0.2313:0.1876:0.1764	.|.	273;148;148|.	G5E947;B3KP95;Q9NVH0|.	.;.;EXD2_HUMAN|.	A|C	273;148;148;148;148;273;148|272	ENSP00000387331:D273A;ENSP00000386915:D148A;ENSP00000386762:D148A;ENSP00000386632:D148A;ENSP00000386839:D148A;ENSP00000313140:D273A;ENSP00000392177:D148A|.	ENSP00000313140:D273A|.	D|X	+|+	2|3	0|0	EXD2|EXD2	68771270|68771270	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.941000|0.941000	0.58515|0.58515	-0.298000|-0.298000	0.08265|0.08265	0.435000|0.435000	0.26365|0.26365	0.528000|0.528000	0.53228|0.53228	GAC|TGA		0.453	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			C	69701517	A	C	69701517	3	2	81	1	0	0	0	0	1	0	0	0	5298	275	10	5	453	5	EXD2	14	69701517	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10		69701517	37648023	47	4247											
THOC6	79228	hgsc.bcm.edu	37	16	3076879	3076879	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr16:3076879G>C	ENST00000326266.8	+	9	894	c.598G>C	c.(598-600)Gcc>Ccc	p.A200P	HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A176P|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A200P|HCFC1R1_ENST00000574151.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A176P|HCFC1R1_ENST00000354679.3_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	200					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.A200P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCTGCGCACAGCCAAGGAGGT	0.582																																																1	Substitution - Missense(1)	ovary(1)	16											140	119	126					16																	3076879		2197	4300	6497	3016880	SO:0001583	missense	79228			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.598G>C	16.37:g.3076879G>C	ENSP00000326531:p.Ala200Pro		3016880	B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958060	0.18507	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.27890	1.64;1.64	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.314141	0.33110	N	0.005272	T	0.26557	0.0649	L	0.33485	1.01	0.42535	D	0.993053	P;P	0.48016	0.904;0.641	B;B	0.41088	0.347;0.188	T	0.06991	-1.0796	10	0.87932	D	0	-0.1143	14.4183	0.67165	0.0:0.0:1.0:0.0	.	200;200	Q86W42-3;Q86W42	.;THOC6_HUMAN	P	200	ENSP00000326531:A200P;ENSP00000253952:A200P	ENSP00000253952:A200P	A	+	1	0	THOC6	3016880	1.000000	0.71417	0.942000	0.38095	0.527000	0.34593	4.650000	0.61440	2.471000	0.83476	0.462000	0.41574	GCC		0.582	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		C	3076879	G	C	3076879	3	2	81	1	0	0	0	0	1	0	0	0	15869	971	34	3	632	3	THOC6	16	3076879	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10		3076879	87277874	48	4248											
C16orf89	146556	hgsc.bcm.edu	37	16	5115850	5115850	+	Silent	SNP	G	G	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr16:5115850G>A	ENST00000315997.5	-	1	261	c.60C>T	c.(58-60)tcC>tcT	p.S20S	C16orf89_ENST00000472572.3_Silent_p.S20S|C16orf89_ENST00000474471.3_Silent_p.S20S|C16orf89_ENST00000350219.4_Silent_p.S58S|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Silent_p.S58S	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	20						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)	p.S58S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCAGTGAGGAGGACCACAGCG	0.617																																																1	Substitution - coding silent(1)	ovary(1)	16											45	51	49					16																	5115850		2115	4241	6356	5055851	SO:0001819	synonymous_variant	146556				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.60C>T	16.37:g.5115850G>A			5055851	B4DUM5|Q8N2I3|Q8N4T1	Silent	SNP	ENST00000315997.5	37	CCDS42116.2																																																																																				0.617	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		A	5115850	G	A	5115850	2	1	81	1	0	0	0	0	0	0	0	1	1842	987	35	2		2	C16orf89	16	5115850	Silent	SNP	G	TCGA-13-0762-01A-01W-0370-10	2038971	5115850	85238903	49	4249											
HYDIN	54768	hgsc.bcm.edu	37	16	70896038	70896038	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr16:70896038C>T	ENST00000393567.2	-	69	11840	c.11690G>A	c.(11689-11691)gGa>gAa	p.G3897E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3897					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.G3848E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGGCACGATTCCCGAAGAGGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											49	47	48					16																	70896038		1888	4112	6000	69453539	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11690G>A	16.37:g.70896038C>T	ENSP00000377197:p.Gly3897Glu		69453539	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847730	0.71603	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.02345	4.33	5.97	5.97	0.96955	.	0.000000	0.33553	U	0.004782	T	0.19005	0.0456	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00018	-1.2372	10	0.87932	D	0	.	18.9942	0.92806	0.0:1.0:0.0:0.0	.	3896	F8WD23	.	E	3897;3896	ENSP00000377197:G3897E	ENSP00000313052:G3896E	G	-	2	0	HYDIN	69453539	1.000000	0.71417	0.238000	0.24106	0.326000	0.28443	5.759000	0.68785	2.838000	0.97847	0.511000	0.50034	GGA		0.542	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70896038	C	T	70896038	3	4	81	1	0	0	0	0	1	0	0	0	7467	855	30	2	3747	2	HYDIN	16	70896038	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	65780188	70896038	19458715	50	4250											
C17orf49	124944	hgsc.bcm.edu	37	17	6919981	6919981	+	Missense_Mutation	SNP	C	C	A	rs61750465		TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr17:6919981C>A	ENST00000439424.2	+	4	462	c.386C>A	c.(385-387)cCc>cAc	p.P129H	MIR497HG_ENST00000443997.1_RNA|RNASEK-C17orf49_ENST00000547302.2_Missense_Mutation_p.P170T|AC040977.1_ENST00000593646.1_5'Flank|MIR497HG_ENST00000385056.1_RNA|MIR497HG_ENST00000385194.1_RNA|C17orf49_ENST00000546760.1_Missense_Mutation_p.P129H|C17orf49_ENST00000547709.1_3'UTR|C17orf49_ENST00000552402.1_Missense_Mutation_p.P95H|C17orf49_ENST00000552775.1_Missense_Mutation_p.P103H|RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000546495.1_Missense_Mutation_p.P129H	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	129					chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P129H(1)		kidney(1)|large_intestine(2)|ovary(1)	4						GCCGGGGGTCCCCCCATAAAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											53	58	57					17																	6919981		2203	4300	6503	6860705	SO:0001583	missense	124944			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"BPTF associated protein of 18 kDa", "human embryo lung cellular protein interacting with SARS-CoV nsp-10"						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.386C>A	17.37:g.6919981C>A	ENSP00000411851:p.Pro129His		6860705	B4DIV3|C9J4G0|E9PB29	Missense_Mutation	SNP	ENST00000439424.2	37	CCDS32542.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.394940|3.394940	0.62066|0.62066	.|.	.|.	ENSG00000161939;ENSG00000161939;ENSG00000258315;ENSG00000258315;ENSG00000258315;ENSG00000258315;ENSG00000258315|ENSG00000161939	ENST00000293804;ENST00000455303;ENST00000546495;ENST00000546760;ENST00000552402;ENST00000439424;ENST00000552775|ENST00000547302	.|.	.|.	.|.	5.07|5.07	4.03|4.03	0.46877|0.46877	.|.	0.246883|0.246883	0.39146|0.39146	N|N	0.001449|0.001449	T|T	0.39384|0.39384	0.1076|0.1076	L|L	0.35854|0.35854	1.095|1.095	.|.	.|.	.|.	B;D;B;D|.	0.89917|.	0.01;1.0;0.051;1.0|.	B;D;B;D|.	0.85130|.	0.01;0.997;0.015;0.997|.	T|T	0.49031|0.49031	-0.8981|-0.8981	8|6	0.52906|0.30078	T|T	0.07|0.28	-13.4409|-13.4409	6.3778|6.3778	0.21517|0.21517	0.0:0.7144:0.1876:0.098|0.0:0.7144:0.1876:0.098	.|.	95;129;129;103|.	E9PB29;C9J4G0;Q8IXM2;F8W1H0|.	.;.;BAP18_HUMAN;.|.	H|T	129;95;129;129;95;129;103|170	.|.	ENSP00000411851:P129H|ENSP00000450085:P170T	P|P	+|+	2|1	0|0	AC040977.1;C17orf49|C17orf49	6860705|6860705	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.826000|2.826000	0.48104|0.48104	2.335000|2.335000	0.79485|0.79485	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.582	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407666.1	NM_174893		A	6919981	C	A	6919981	3	1	81	1	0	0	0	0	1	0	0	0	1860	623	22	3	400	3	C17orf49	17	6919981	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10		6919981	74275229	51	4251											
TP53	7157	hgsc.bcm.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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"	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	17	GRCh37	CM083194|CM951225	TP53	M							97	87	90					17																	7578271		2203	4300	6503	7518996	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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg		7518996	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	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	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	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578271	T	C	7578271	3	2	81	1	0	0	0	0	1	0	0	0	16381	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-13-0762-01A-01W-0370-10	658290	7578271	73616939	52	4252											
SUPT6H	6830	hgsc.bcm.edu	37	17	27011891	27011891	+	Missense_Mutation	SNP	A	A	G	rs190479497	byFrequency	TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr17:27011891A>G	ENST00000314616.6	+	19	2682	c.2399A>G	c.(2398-2400)aAt>aGt	p.N800S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.N800S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	800	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N800S(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCCTGGTCAATGGTGAAGGA	0.458													A|||	8	0.00159744	0	0	5008	,	,		24357	0.005		0.001	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	17						A	SER/ASN	0,4406		0,0,2203	99	88	92		2399	4.3	1	17		92	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SUPT6H	NM_003170.3	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	800/1727	27011891	1,13005	2203	4300	6503	24036018	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2399A>G	17.37:g.27011891A>G	ENSP00000319104:p.Asn800Ser		24036018	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	A	12.98	2.101843	0.37048	0.0	1.16E-4	ENSG00000109111	ENST00000314616	.	.	.	5.4	4.33	0.51752	YqgF/RNase H-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45577	0.1349	L	0.36672	1.1	0.58432	D	0.999992	B	0.17268	0.021	B	0.08055	0.003	T	0.34254	-0.9836	9	0.44086	T	0.13	-20.7227	10.0778	0.42370	0.9236:0.0:0.0764:0.0	.	800	Q7KZ85	SPT6H_HUMAN	S	800	.	ENSP00000319104:N800S	N	+	2	0	SUPT6H	24036018	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.800000	0.91900	1.005000	0.39183	0.528000	0.53228	AAT		0.458	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		G	27011891	A	G	27011891	3	3	81	1	0	0	0	0	1	0	0	0	15400	101	4	4	2469	4	SUPT6H	17	27011891	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10	19433620	27011891	54183319	53	4253											
IRF3	3661	hgsc.bcm.edu	37	19	50165874	50165874	+	Splice_Site	SNP	C	C	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr19:50165874C>T	ENST00000597198.1	-	5	790	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	IRF3_ENST00000442265.2_Splice_Site_p.R79R|IRF3_ENST00000309877.7_Splice_Site_p.E137K|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000600911.1_Splice_Site_p.E137K|IRF3_ENST00000600022.1_5'UTR|BCL2L12_ENST00000246785.3_5'Flank|IRF3_ENST00000599144.1_5'UTR|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000601291.1_Splice_Site_p.E137K|IRF3_ENST00000377139.3_Splice_Site_p.E137K|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000377135.4_Splice_Site_p.E137K|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000596765.1_5'UTR|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000599223.1_Splice_Site_p.E137K			Q14653	IRF3_HUMAN	interferon regulatory factor 3	137					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.E137K(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGAATGTCTTCCTGGAGGGAA	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											17	15	16					19																	50165874		2115	4124	6239	54857686	SO:0001630	splice_region_variant	3661				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.409-1G>A	19.37:g.50165874C>T			54857686	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.989193	0.53934	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.96856	-4.15;-4.15;-4.05	3.91	2.88	0.33553	.	2.035740	0.02571	N	0.097763	D	0.93298	0.7864	L	0.34521	1.04	0.49582	D	0.999804	B;P;P;B;B	0.42409	0.016;0.779;0.779;0.125;0.384	B;B;B;B;B	0.39185	0.01;0.293;0.293;0.038;0.113	D	0.86324	0.1694	10	0.42905	T	0.14	-21.48	7.6059	0.28101	0.0:0.8843:0.0:0.1157	.	137;137;137;137;137	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	K	137	ENSP00000366344:E137K;ENSP00000310127:E137K;ENSP00000366339:E137K	ENSP00000310127:E137K	E	-	1	0	IRF3	54857686	0.981000	0.34729	0.524000	0.27887	0.544000	0.35116	1.600000	0.36762	1.253000	0.44018	0.651000	0.88453	GAA		0.542	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571	Missense_Mutation	T	50165874	C	T	50165874	5	4	81	1	0	0	0	0	0	0	1	0	7831	869	30	2	890	2	IRF3	19	50165874	Splice_Site	SNP	C	TCGA-13-0762-01A-01W-0370-10		50165874	8963109	54	4254											
SIGLEC11	114132	hgsc.bcm.edu	37	19	50453487	50453487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr19:50453487G>A	ENST00000447370.2	-	11	1927	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	SIGLEC11_ENST00000426971.2_Nonsense_Mutation_p.Q517*|CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	613					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q601*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CATTCATGCTGGTGACCCTGA	0.587																																																1	Substitution - Nonsense(1)	ovary(1)	19											15	17	16					19																	50453487		2203	4299	6502	55145299	SO:0001587	stop_gained	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1837C>T	19.37:g.50453487G>A	ENSP00000412361:p.Gln613*		55145299		Nonsense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069225	0.76301	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	.	.	.	3.97	-1.49	0.08718	.	2.606050	0.01507	N	0.017771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	11.2611	0.49083	0.0:0.0:0.3674:0.6326	.	.	.	.	X	613;517	.	ENSP00000412361:Q613X	Q	-	1	0	SIGLEC11	55145299	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.032000	0.30178	-0.253000	0.09514	-0.169000	0.13324	CAG		0.587	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		A	50453487	G	A	50453487	4	1	81	1	0	0	0	0	0	1	0	0	14310	1357	47	2	263	2	SIGLEC11	19	50453487	Nonsense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	287613	50453487	8675496	55	4255											
CTSA	5476	hgsc.bcm.edu	37	20	44522691	44522691	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr20:44522691G>C	ENST00000372459.2	+	7	950	c.757G>C	c.(757-759)Gac>Cac	p.D253H	CTSA_ENST00000372484.3_Missense_Mutation_p.D271H|CTSA_ENST00000354880.5_Missense_Mutation_p.D254H|CTSA_ENST00000191018.5_Missense_Mutation_p.D253H|RP3-337O18.9_ENST00000607703.1_RNA|NEURL2_ENST00000372518.4_5'Flank			P10619	PPGB_HUMAN	cathepsin A	253					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.D271H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGACAACAAAGACCTGGAATG	0.498																																																1	Substitution - Missense(1)	ovary(1)	20											163	131	142					20																	44522691		2203	4300	6503	43956098	SO:0001583	missense	5476			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.757G>C	20.37:g.44522691G>C	ENSP00000361537:p.Asp253His		43956098	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207290	0.58343	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0	4.65	3.7	0.42460	.	0.187040	0.56097	D	0.000023	D	0.92348	0.7572	L	0.61387	1.9	0.58432	D	0.999994	P;P;P	0.44478	0.836;0.836;0.836	P;P;P	0.52309	0.581;0.695;0.581	D	0.91663	0.5344	10	0.62326	D	0.03	-13.6078	8.4891	0.33089	0.1951:0.0:0.8049:0.0	.	253;253;270	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	H	254;271;253;236;253	ENSP00000346952:D254H;ENSP00000361562:D271H;ENSP00000191018:D253H;ENSP00000408533:D236H;ENSP00000361537:D253H	ENSP00000191018:D253H	D	+	1	0	CTSA	43956098	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	4.114000	0.57858	1.315000	0.45114	0.561000	0.74099	GAC		0.498	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		C	44522691	G	C	44522691	3	2	81	1	0	0	0	0	1	0	0	0	4029	942	33	3	841	3	CTSA	20	44522691	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10		44522691	18502829	56	4256											
NFATC2	4773	hgsc.bcm.edu	37	20	50090672	50090672	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr20:50090672A>G	ENST00000396009.3	-	5	1772	c.1553T>C	c.(1552-1554)aTc>aCc	p.I518T	NFATC2_ENST00000610033.1_Missense_Mutation_p.I299T|NFATC2_ENST00000371564.3_Missense_Mutation_p.I518T|NFATC2_ENST00000609943.1_Missense_Mutation_p.I498T|NFATC2_ENST00000609507.1_Missense_Mutation_p.I299T|NFATC2_ENST00000414705.1_Missense_Mutation_p.I498T	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	518	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I518T(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AAGCTTCAAGATCCCCGCACA	0.532																																																1	Substitution - Missense(1)	ovary(1)	20											141	118	126					20																	50090672		2203	4300	6503	49524079	SO:0001583	missense	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1553T>C	20.37:g.50090672A>G	ENSP00000379330:p.Ile518Thr		49524079	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110856	0.77210	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.62788	-0.0;-0.0;-0.0	5.3	5.3	0.74995	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.099244	0.64402	D	0.000004	T	0.82167	0.4978	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86058	0.1530	10	0.87932	D	0	-10.3629	15.2604	0.73617	1.0:0.0:0.0:0.0	.	498;498;518;518	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	T	518;518;498	ENSP00000360619:I518T;ENSP00000379330:I518T;ENSP00000396471:I498T	ENSP00000360619:I518T	I	-	2	0	NFATC2	49524079	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.210000	0.95106	1.998000	0.58463	0.374000	0.22700	ATC		0.532	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		G	50090672	A	G	50090672	3	3	81	1	0	0	0	0	1	0	0	0	10362	333	12	4	1296	4	NFATC2	20	50090672	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10	5567981	50090672	12934848	57	4257											
SMARCB1	6598	hgsc.bcm.edu	37	22	24175823	24175823	+	Missense_Mutation	SNP	C	C	T	rs112118417		TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr22:24175823C>T	ENST00000263121.7	+	8	1247	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407422.3_Missense_Mutation_p.P342S|SMARCB1_ENST00000407082.3_Missense_Mutation_p.P305S|SMARCB1_ENST00000344921.6_Missense_Mutation_p.P360S	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	351					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.P351S(1)|p.P351fs*5(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CCAGTGGTGCCCACTGCTGGA	0.612			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	5	Unknown(2)|Substitution - Missense(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	central_nervous_system(3)|ovary(1)|soft_tissue(1)	22											145	127	133					22																	24175823		2203	4300	6503	22505823	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1051C>T	22.37:g.24175823C>T	ENSP00000263121:p.Pro351Ser		22505823	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861127	0.91433	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96118	0.9082	10	0.72032	D	0.01	-22.6007	17.2148	0.86940	0.0:1.0:0.0:0.0	.	360;342;351	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	S	360;351;342;305	ENSP00000340883:P360S;ENSP00000263121:P351S;ENSP00000383984:P342S;ENSP00000385226:P305S	ENSP00000263121:P351S	P	+	1	0	SMARCB1	22505823	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	7.569000	0.82380	2.387000	0.81309	0.543000	0.68304	CCA		0.612	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		T	24175823	C	T	24175823	3	4	81	1	0	0	0	0	1	0	0	0	14777	623	22	2	1081	2	SMARCB1	22	24175823	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10		24175823	27128743	58	4258											
C22orf32	91689	hgsc.bcm.edu	37	22	42475927	42475927	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chr22:42475927G>A	ENST00000331479.3	+	1	229	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	52					calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)		p.R52H(1)									ATCGTTACCCGCAGCGGCGCC	0.647																																																1	Substitution - Missense(1)	ovary(1)	22											69	70	70					22																	42475927		2203	4300	6503	40805873	SO:0001583	missense	91689			BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"chromosome 22 open reading frame 32"	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.155G>A	22.37:g.42475927G>A	ENSP00000327467:p.Arg52His		40805873	B2R5D1|Q8TAB9	Missense_Mutation	SNP	ENST00000331479.3	37	CCDS14031.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176092	0.94846	.	.	ENSG00000183172	ENST00000331479	T	0.50548	0.74	6.08	5.06	0.68205	.	0.277859	0.43110	D	0.000616	T	0.59376	0.2189	M	0.65498	2.005	0.43214	D	0.995088	D	0.63046	0.992	P	0.52598	0.703	T	0.64829	-0.6315	10	0.62326	D	0.03	-5.8922	16.2382	0.82393	0.0:0.2502:0.7498:0.0	.	52	Q9H4I9	CV032_HUMAN	H	52	ENSP00000327467:R52H	ENSP00000327467:R52H	R	+	2	0	C22orf32	40805873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.763000	0.62257	1.575000	0.49775	0.591000	0.81541	CGC		0.647	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		A	42475927	G	A	42475927	3	1	81	1	0	0	0	0	1	0	0	0	2144	1087	38	1	157	1	C22orf32	22	42475927	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	18300104	42475927	8828639	59	4259											
MID1	4281	hgsc.bcm.edu	37	X	10463677	10463677	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chrX:10463677C>G	ENST00000317552.4	-	4	1211	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	MID1_ENST00000380779.1_Missense_Mutation_p.E271Q|MID1_ENST00000380782.2_Missense_Mutation_p.E271Q|MID1_ENST00000453318.2_Missense_Mutation_p.E271Q|MID1_ENST00000380787.1_Missense_Mutation_p.E271Q|MID1_ENST00000380785.1_Missense_Mutation_p.E271Q|MID1_ENST00000380780.1_Missense_Mutation_p.E271Q	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	271					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGAATGATCTCAATGAGAAGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	X											237	181	200					X																	10463677		2203	4300	6503	10423677	SO:0001583	missense	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.811G>C	X.37:g.10463677C>G	ENSP00000312678:p.Glu271Gln		10423677	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709611	0.48517	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;1.03;1.02	5.57	5.57	0.84162	B-box, C-terminal (1);	0.210963	0.48767	D	0.000172	T	0.49677	0.1571	L	0.43152	1.355	0.46241	D	0.998941	B;B;B	0.33345	0.409;0.136;0.136	B;B;B	0.34652	0.187;0.12;0.12	T	0.47711	-0.9096	10	0.41790	T	0.15	.	18.2928	0.90136	0.0:1.0:0.0:0.0	.	271;271;271	O15344-2;A8K5A0;O15344	.;.;TRI18_HUMAN	Q	271;271;271;271;271;271;271;221;271	ENSP00000414521:E271Q;ENSP00000312678:E271Q;ENSP00000370162:E271Q;ENSP00000370156:E271Q;ENSP00000370164:E271Q;ENSP00000370157:E271Q;ENSP00000370159:E271Q;ENSP00000391154:E271Q	ENSP00000312678:E271Q	E	-	1	0	MID1	10423677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.128000	0.50492	2.360000	0.80028	0.600000	0.82982	GAG		0.383	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			G	10463677	C	G	10463677	3	3	81	1	0	0	0	0	1	0	0	0	9576	835	29	3	1220	3	MID1	23	10463677	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10		10463677	144806883	60	4260											
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29972757	29972757	+	Silent	SNP	G	G	A	rs377412690		TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chrX:29972757G>A	ENST00000378993.1	+	10	1993	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	IL1RAPL1_ENST00000302196.4_Silent_p.K440K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	440	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.K440K(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGCTTGAAAAGCATTATGGAT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	X						G		1,3832		0,1,1630,571	93	82	86		1320	2.8	1	X		86	0,6728		0,0,2428,1872	no	coding-synonymous	IL1RAPL1	NM_014271.3		0,1,4058,2443	AA,AG,GG,G		0.0,0.0261,0.0095		440/697	29972757	1,10560	2202	4300	6502	29882678	SO:0001819	synonymous_variant	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1320G>A	X.37:g.29972757G>A			29882678	A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	CCDS14218.1																																																																																				0.373	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		A	29972757	G	A	29972757	2	1	81	1	0	0	0	0	0	0	0	1	7661	962	34	2		2	IL1RAPL1	23	29972757	Silent	SNP	G	TCGA-13-0762-01A-01W-0370-10	19509080	29972757	125297803	61	4261											
GSPT2	23708	hgsc.bcm.edu	37	X	51488456	51488456	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chrX:51488456A>T	ENST00000340438.4	+	1	1976	c.1734A>T	c.(1732-1734)caA>caT	p.Q578H		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	578					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.Q578H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TCGTGAAACAAGATCAAGTAT	0.413																																																1	Substitution - Missense(1)	ovary(1)	X											109	94	99					X																	51488456		2203	4300	6503	51505196	SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1734A>T	X.37:g.51488456A>T	ENSP00000341247:p.Gln578His		51505196	Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550888	0.45383	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.33216	1.42	4.75	3.6	0.41247	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60136	-0.7322	10	0.72032	D	0.01	-14.0533	7.9285	0.29889	0.901:0.0:0.099:0.0	.	578	Q8IYD1	ERF3B_HUMAN	H	578;495	ENSP00000341247:Q578H	ENSP00000341247:Q578H	Q	+	3	2	GSPT2	51505196	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.596000	0.54024	0.928000	0.37168	0.483000	0.47432	CAA		0.413	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			T	51488456	A	T	51488456	3	4	81	1	0	0	0	0	1	0	0	0	6827	69	3	5	1736	5	GSPT2	23	51488456	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10	21515699	51488456	103782104	62	4262											
EDA	1896	hgsc.bcm.edu	37	X	68836336	68836336	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chrX:68836336C>A	ENST00000374552.4	+	1	426	c.184C>A	c.(184-186)Cta>Ata	p.L62I	EDA_ENST00000374553.2_Missense_Mutation_p.L62I|EDA_ENST00000525810.1_Missense_Mutation_p.L62I|EDA_ENST00000524573.1_Missense_Mutation_p.L62I|EDA_ENST00000338901.3_Missense_Mutation_p.L62I|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000527388.1_Missense_Mutation_p.L62I	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	62					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.L62I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GTGCTGCTACCTAGAGTTGCG	0.692																																																1	Substitution - Missense(1)	ovary(1)	X											57	45	49					X																	68836336		2203	4300	6503	68753061	SO:0001583	missense	1896			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.184C>A	X.37:g.68836336C>A	ENSP00000363680:p.Leu62Ile		68753061	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245747	0.59103	.	.	ENSG00000158813	ENST00000513754;ENST00000338901;ENST00000374552;ENST00000374553;ENST00000525810;ENST00000527388;ENST00000524573	D;D;D;D;D;D	0.98947	-5.26;-4.43;-4.47;-5.25;-5.26;-4.31	4.8	4.8	0.61643	.	0.000000	0.56097	D	0.000040	D	0.98248	0.9420	L	0.32530	0.975	0.41451	D	0.987988	D;D;D;D;D;D;D;D	0.76494	0.996;0.993;0.996;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.80764	0.978;0.952;0.978;0.994;0.994;0.994;0.994;0.994	D	0.99806	1.1038	10	0.87932	D	0	-5.111	14.1043	0.65078	0.0:1.0:0.0:0.0	.	62;62;62;62;62;62;62;62	Q92838-9;Q92838;Q92838-3;Q92838-8;Q92838-6;Q92838-2;Q92838-7;Q92838-5	.;EDA_HUMAN;.;.;.;.;.;.	I	62	ENSP00000340611:L62I;ENSP00000363680:L62I;ENSP00000363681:L62I;ENSP00000434195:L62I;ENSP00000434861:L62I;ENSP00000432585:L62I	ENSP00000340611:L62I	L	+	1	2	EDA	68753061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.160000	0.42348	2.199000	0.70637	0.600000	0.82982	CTA		0.692	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		A	68836336	C	A	68836336	3	1	81	1	0	0	0	0	1	0	0	0	4903	680	24	3	186	3	EDA	23	68836336	Missense_Mutation	SNP	C	TCGA-13-0762-01A-01W-0370-10	17347880	68836336	86434224	63	4263											
GPR174	84636	hgsc.bcm.edu	37	X	78427172	78427172	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chrX:78427172G>A	ENST00000276077.1	+	1	704	c.668G>A	c.(667-669)gGa>gAa	p.G223E		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G223E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAAGATCTTGGAGAGAAACAG	0.408										HNSCC(63;0.18)																																						1	Substitution - Missense(1)	ovary(1)	X											93	91	92					X																	78427172		2203	4300	6503	78313828	SO:0001583	missense	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.668G>A	X.37:g.78427172G>A	ENSP00000276077:p.Gly223Glu		78313828	Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	g	17.86	3.492033	0.64074	.	.	ENSG00000147138	ENST00000276077	T	0.34859	1.34	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	L	0.46157	1.445	0.80722	D	1	P	0.43352	0.804	P	0.51297	0.665	T	0.19160	-1.0314	10	0.02654	T	1	.	16.0106	0.80399	0.0:0.0:1.0:0.0	.	223	Q9BXC1	GP174_HUMAN	E	223	ENSP00000276077:G223E	ENSP00000276077:G223E	G	+	2	0	GPR174	78313828	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	9.175000	0.94831	2.085000	0.62840	0.488000	0.48403	GGA		0.408	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		A	78427172	G	A	78427172	3	1	81	1	0	0	0	0	1	0	0	0	6672	1174	41	2	670	2	GPR174	23	78427172	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	9590836	78427172	76843388	64	4264											
BCORL1	63035	hgsc.bcm.edu	37	X	129149485	129149485	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chrX:129149485A>G	ENST00000218147.7	+	4	2934	c.2737A>G	c.(2737-2739)Aag>Gag	p.K913E	BCORL1_ENST00000303743.5_Missense_Mutation_p.K913E|BCORL1_ENST00000540052.1_Missense_Mutation_p.K913E|BCORL1_ENST00000359304.2_Missense_Mutation_p.K913E			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	913					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K913E(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GATTGCTGCCAAGCCTTATGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	X											79	65	70					X																	129149485		2203	4300	6503	128977166	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2737A>G	X.37:g.129149485A>G	ENSP00000218147:p.Lys913Glu		128977166	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.92|16.92	3.254935|3.254935	0.59321|0.59321	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.60299|.	0.25;0.69;0.2;0.25;0.79|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.38492|.	N|.	0.001662|.	T|T	0.54303|0.54303	0.1850|0.1850	L|L	0.29908|0.29908	0.895|0.895	0.42532|0.42532	D|D	0.99304|0.99304	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.991;0.985|.	T|T	0.52403|0.52403	-0.8580|-0.8580	10|5	0.42905|.	T|.	0.14|.	-17.9789|-17.9789	14.3746|14.3746	0.66865|0.66865	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	913;913|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	E|R	913;913;913;913;513|348	ENSP00000218147:K913E;ENSP00000307541:K913E;ENSP00000352253:K913E;ENSP00000437775:K913E;ENSP00000399483:K513E|.	ENSP00000218147:K913E|.	K|Q	+|+	1|2	0|0	BCORL1|BCORL1	128977166|128977166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.501000|4.501000	0.60393|0.60393	1.774000|1.774000	0.52232|0.52232	0.430000|0.430000	0.28490|0.28490	AAG|CAA		0.567	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		G	129149485	A	G	129149485	3	3	81	1	0	0	0	0	1	0	0	0	1387	131	5	4	2747	4	BCORL1	23	129149485	Missense_Mutation	SNP	A	TCGA-13-0762-01A-01W-0370-10	50722313	129149485	26121075	65	4265											
IGSF1	3547	hgsc.bcm.edu	37	X	130412650	130412650	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0762-01A-01W-0370-10	TCGA-13-0762-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	a1eb64c8-fff1-4e0f-80d1-dfa2df48fa9a	fe49fffe-dfd4-41e6-915d-92f354e7695e	g.chrX:130412650G>T	ENST00000361420.3	-	12	1905	c.1826C>A	c.(1825-1827)aCc>aAc	p.T609N	IGSF1_ENST00000370903.3_Missense_Mutation_p.T614N|IGSF1_ENST00000370910.1_Missense_Mutation_p.T600N|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.T600N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	609	Ig-like C2-type 6.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.T609N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCACCAGAGGGTTAAGTTCTT	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											66	66	66					X																	130412650		2203	4299	6502	130240331	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1826C>A	X.37:g.130412650G>T	ENSP00000355010:p.Thr609Asn		130240331	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	g	16.03	3.008423	0.54361	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.09	5.09	0.68999	Immunoglobulin-like fold (1);	1.078380	0.07119	N	0.843515	T	0.56031	0.1958	M	0.93283	3.4	0.32294	N	0.565949	D;D;D	0.89917	0.978;1.0;0.997	P;D;D	0.91635	0.882;0.999;0.994	T	0.56896	-0.7903	10	0.87932	D	0	.	13.1782	0.59639	0.0:0.0:1.0:0.0	.	600;53;609	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	N	600;609;600;614	ENSP00000359947:T600N;ENSP00000355010:T609N;ENSP00000359941:T600N;ENSP00000359940:T614N	ENSP00000355010:T609N	T	-	2	0	IGSF1	130240331	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.598000	0.61069	2.262000	0.75019	0.597000	0.82753	ACC		0.552	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			T	130412650	G	T	130412650	3	4	81	1	0	0	0	0	1	0	0	0	7596	1261	44	3	2220	3	IGSF1	23	130412650	Missense_Mutation	SNP	G	TCGA-13-0762-01A-01W-0370-10	1263165	130412650	24857910	66	4266											
ILDR2	387597	genome.wustl.edu	37	1	166905934	166905934	+	Silent	SNP	G	G	A			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr1:166905934G>A	ENST00000271417.3	-	5	652	c.597C>T	c.(595-597)ctC>ctT	p.L199L	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Silent_p.L199L|ILDR2_ENST00000529071.1_Silent_p.L180L|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000528703.1_Silent_p.L199L|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	199					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L199L(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGACGAAGAAGAGGAAGACGC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	1											70	74	72					1																	166905934		2203	4300	6503	165172558	SO:0001819	synonymous_variant	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.597C>T	1.37:g.166905934G>A			165172558		Silent	SNP	ENST00000271417.3	37	CCDS1256.1																																																																																				0.617	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		A	166905934	G	A	166905934	2	1	82	1	0	0	0	0	0	0	0	1	7710	929	33	2		2	ILDR2	1	166905934	Silent	SNP	G	TCGA-13-0765-01A-01W-0372-09		166905934	82344687	1	4267											
ASTN1	460	genome.wustl.edu	37	1	176992701	176992701	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr1:176992701C>A	ENST00000367654.3	-	7	1488	c.1277G>T	c.(1276-1278)cGc>cTc	p.R426L	ASTN1_ENST00000424564.2_Missense_Mutation_p.R426L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R426L|ASTN1_ENST00000367657.3_Missense_Mutation_p.R426L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	426					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R426L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAAGATGAAGCGGCTCCCTGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											40	37	38					1																	176992701		2203	4300	6503	175259324	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1277G>T	1.37:g.176992701C>A	ENSP00000356626:p.Arg426Leu		175259324	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.431005	0.83776	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16597	2.33;2.75;2.75;2.34	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	N	0.24115	0.695	0.58432	D	0.999999	P;B;B	0.35107	0.484;0.102;0.113	B;B;B	0.29077	0.098;0.058;0.04	T	0.03576	-1.1023	10	0.66056	D	0.02	-32.0951	19.5786	0.95455	0.0:1.0:0.0:0.0	.	426;426;426	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	426	ENSP00000356629:R426L;ENSP00000354536:R426L;ENSP00000356626:R426L;ENSP00000395041:R426L	ENSP00000354536:R426L	R	-	2	0	ASTN1	175259324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.750000	0.68712	2.726000	0.93360	0.655000	0.94253	CGC		0.567	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		A	176992701	C	A	176992701	3	1	82	1	0	0	0	0	1	0	0	0	1064	768	27	3	2679	3	ASTN1	1	176992701	Missense_Mutation	SNP	C	TCGA-13-0765-01A-01W-0372-09	10086767	176992701	72257920	2	4268											
HMCN1	83872	genome.wustl.edu	37	1	186092234	186092234	+	Silent	SNP	C	C	T			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr1:186092234C>T	ENST00000271588.4	+	81	12610	c.12381C>T	c.(12379-12381)gtC>gtT	p.V4127V	HMCN1_ENST00000367492.2_Silent_p.V4127V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4127	Ig-like C2-type 40.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.V4127V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCCAGCGCGTCCTCAGCTCTG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	1											98	76	83					1																	186092234		2203	4300	6503	184358857	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12381C>T	1.37:g.186092234C>T			184358857	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.537	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186092234	C	T	186092234	2	4	82	1	0	0	0	0	0	0	0	1	7220	842	30	2		2	HMCN1	1	186092234	Silent	SNP	C	TCGA-13-0765-01A-01W-0372-09	9099533	186092234	63158387	3	4269											
MAP1LC3C	440738	genome.wustl.edu	37	1	242159668	242159668	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr1:242159668C>T	ENST00000357246.3	-	4	305	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	81					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)		p.A81T(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTTCCGTGGCTCTCAGGACC	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											126	112	117					1																	242159668		2203	4300	6503	240226291	SO:0001583	missense	440738			AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.241G>A	1.37:g.242159668C>T	ENSP00000349785:p.Ala81Thr		240226291	A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	7.652	0.683081	0.14907	.	.	ENSG00000197769	ENST00000357246	T	0.47528	0.84	4.18	2.26	0.28386	.	0.115203	0.64402	N	0.000014	T	0.45518	0.1346	M	0.79258	2.445	0.09310	N	1	B	0.11235	0.004	B	0.20767	0.031	T	0.48958	-0.8988	10	0.87932	D	0	.	5.9007	0.18965	0.1552:0.6742:0.0:0.1705	.	81	Q9BXW4	MLP3C_HUMAN	T	81	ENSP00000349785:A81T	ENSP00000349785:A81T	A	-	1	0	MAP1LC3C	240226291	0.651000	0.27340	0.003000	0.11579	0.266000	0.26442	0.975000	0.29449	0.388000	0.25054	0.643000	0.83706	GCC		0.562	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		T	242159668	C	T	242159668	3	4	82	1	0	0	0	0	1	0	0	0	9233	797	28	2	206	2	MAP1LC3C	1	242159668	Missense_Mutation	SNP	C	TCGA-13-0765-01A-01W-0372-09	56067434	242159668	7090953	4	4270											
CPZ	8532	genome.wustl.edu	37	4	8609121	8609123	+	In_Frame_Del	DEL	AGA	AGA	-	rs147815913	byFrequency	TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr4:8609121_8609123delAGA	ENST00000360986.4	+	7	1370_1372	c.1196_1198delAGA	c.(1195-1200)gagaag>gag	p.K400del	CPZ_ENST00000315782.6_In_Frame_Del_p.K389del|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_In_Frame_Del_p.K263del	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	400					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K400del(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCCCAGGAGGAGAAGATGTTTTC	0.621											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - In frame(1)	ovary(1)	4																																								8660023	SO:0001651	inframe_deletion	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1196_1198delAGA	4.37:g.8609124_8609126delAGA	ENSP00000354255:p.Lys400del	650	8660021	O00520|Q96MX2	In_Frame_Del	DEL	ENST00000360986.4	37	CCDS33953.1																																																																																				0.621	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		-	8609123	AGA	-	8609121	7	5	82	1	0	1	0	1	0	0	0	0	3839	304	11	0	1222	0	CPZ	4	8609121	In_Frame_Del	DEL	AGA	TCGA-13-0765-01A-01W-0372-09		8609121	182545155	5	4271											
C6	729	genome.wustl.edu	37	5	41149516	41149516	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr5:41149516T>C	ENST00000263413.3	-	17	2714	c.2450A>G	c.(2449-2451)aAg>aGg	p.K817R	C6_ENST00000337836.5_Missense_Mutation_p.K817R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	817	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.K817R(1)|p.K817T(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGCCAAAAACTTACAAGCGGG	0.423																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	5											126	134	131					5																	41149516		2203	4300	6503	41185273	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2450A>G	5.37:g.41149516T>C	ENSP00000263413:p.Lys817Arg		41185273		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	9.740	1.164674	0.21538	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.04454	3.62;3.62	5.97	3.47	0.39725	Proteinase inhibitor I1, Kazal (1);Factor I / membrane attack complex (1);Protease inhibitor, Kazal-type (1);	0.511596	0.22714	N	0.056534	T	0.07188	0.0182	M	0.72894	2.215	0.09310	N	0.999997	P	0.40731	0.728	B	0.37833	0.259	T	0.19778	-1.0295	10	0.37606	T	0.19	-3.3395	9.2544	0.37575	0.1224:0.0:0.1285:0.7492	.	817	P13671	CO6_HUMAN	R	817	ENSP00000338861:K817R;ENSP00000263413:K817R	ENSP00000263413:K817R	K	-	2	0	C6	41185273	0.987000	0.35691	0.202000	0.23494	0.238000	0.25445	1.215000	0.32431	0.445000	0.26639	0.533000	0.62120	AAG		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			C	41149516	T	C	41149516	3	2	82	1	0	0	0	0	1	0	0	0	2315	1609	56	4	362	4	C6	5	41149516	Missense_Mutation	SNP	T	TCGA-13-0765-01A-01W-0372-09		41149516	139765744	6	4272											
ZNF479	90827	genome.wustl.edu	37	7	57187711	57187711	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr7:57187711C>T	ENST00000331162.4	-	5	1681	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G471S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAGGCTTTGCCACATTCTTCA	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											43	43	43					7																	57187711		2068	4224	6292	57191653	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1411G>A	7.37:g.57187711C>T	ENSP00000333776:p.Gly471Ser		57191653		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	13.62	2.291611	0.40494	.	.	ENSG00000185177	ENST00000331162	T	0.07216	3.21	0.955	-0.325	0.12702	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09158	0.0226	L	0.28649	0.875	0.22762	N	0.998764	P	0.39060	0.657	P	0.47206	0.541	T	0.32161	-0.9917	9	0.66056	D	0.02	.	5.4604	0.16614	0.0:0.769:0.0:0.231	.	471	Q96JC4	ZN479_HUMAN	S	471	ENSP00000333776:G471S	ENSP00000333776:G471S	G	-	1	0	ZNF479	57191653	0.980000	0.34600	0.016000	0.15963	0.015000	0.08874	2.002000	0.40835	-0.569000	0.06030	-0.573000	0.04149	GGC		0.413	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		T	57187711	C	T	57187711	3	4	82	1	0	0	0	0	1	0	0	0	17933	594	21	2	167	2	ZNF479	7	57187711	Missense_Mutation	SNP	C	TCGA-13-0765-01A-01W-0372-09		57187711	101950952	7	4273											
LIMK1	3984	genome.wustl.edu	37	7	73520519	73520519	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr7:73520519C>A	ENST00000336180.2	+	7	878	c.827C>A	c.(826-828)cCg>cAg	p.P276Q	LIMK1_ENST00000418310.1_Missense_Mutation_p.P306Q|LIMK1_ENST00000538333.3_Missense_Mutation_p.P242Q	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	276					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P276Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CTGAGCTCTCCGGCTTATACT	0.637																																																1	Substitution - Missense(1)	ovary(1)	7											94	110	105					7																	73520519		2203	4300	6503	73158455	SO:0001583	missense	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.827C>A	7.37:g.73520519C>A	ENSP00000336740:p.Pro276Gln		73158455	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270295	0.40194	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.75260	-0.89;-0.88;-0.92	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.82990	0.5157	M	0.65498	2.005	0.49687	D	0.999814	D;D;D	0.63880	0.983;0.985;0.993	P;P;P	0.62184	0.579;0.796;0.899	D	0.84137	0.0415	10	0.51188	T	0.08	-20.6067	15.5083	0.75760	0.0:1.0:0.0:0.0	.	171;242;276	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	Q	306;276;276;242	ENSP00000409717:P306Q;ENSP00000336740:P276Q;ENSP00000444452:P242Q	ENSP00000336740:P276Q	P	+	2	0	LIMK1	73158455	0.741000	0.28217	0.913000	0.36048	0.020000	0.10135	2.671000	0.46842	2.264000	0.75181	0.555000	0.69702	CCG		0.637	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		A	73520519	C	A	73520519	3	1	82	1	0	0	0	0	1	0	0	0	8801	652	23	3	853	3	LIMK1	7	73520519	Missense_Mutation	SNP	C	TCGA-13-0765-01A-01W-0372-09	16332808	73520519	85618144	8	4274											
PTPRN2	5799	genome.wustl.edu	37	7	157387981	157387981	+	Silent	SNP	C	C	T	rs139538258		TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr7:157387981C>T	ENST00000389418.4	-	17	2454	c.2445G>A	c.(2443-2445)gcG>gcA	p.A815A	PTPRN2_ENST00000389413.3_Silent_p.A786A|PTPRN2_ENST00000404321.2_Silent_p.A838A|PTPRN2_ENST00000409483.1_Silent_p.A777A|PTPRN2_ENST00000389416.4_Silent_p.A798A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	815	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A815A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCGATGTACGCGGGGTTCC	0.522													C|||	1	0.000199681	0	0	5008	,	,		17316	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	7							,,	5,4401	9.9+/-24.2	0,5,2198	60	66	64		2445,2394,2358	-10.2	0.5	7	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	,,	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	,,	815/1016,798/999,786/987	157387981	6,13000	2203	4300	6503	157080742	SO:0001819	synonymous_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2445G>A	7.37:g.157387981C>T			157080742	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	CCDS5947.1																																																																																				0.522	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			T	157387981	C	T	157387981	2	4	82	1	0	0	0	0	0	0	0	1	12811	523	19	1		1	PTPRN2	7	157387981	Silent	SNP	C	TCGA-13-0765-01A-01W-0372-09	83867462	157387981	1750682	9	4275											
PI15	51050	genome.wustl.edu	37	8	75756233	75756233	+	Silent	SNP	T	T	A			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr8:75756233T>A	ENST00000260113.2	+	3	470	c.291T>A	c.(289-291)ctT>ctA	p.L97L	PI15_ENST00000523773.1_Silent_p.L97L|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	97	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.L97L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATGAAAATCTTGCAAAATCGG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	8											103	105	104					8																	75756233		2203	4300	6503	75918788	SO:0001819	synonymous_variant	51050			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.291T>A	8.37:g.75756233T>A			75918788	Q68CY1	Silent	SNP	ENST00000260113.2	37	CCDS6218.1																																																																																				0.403	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		A	75756233	T	A	75756233	2	1	82	1	0	0	0	0	0	0	0	1	11868	1799	63	5		5	PI15	8	75756233	Silent	SNP	T	TCGA-13-0765-01A-01W-0372-09		75756233	70607789	10	4276											
CDC14B	8555	genome.wustl.edu	37	9	99266068	99266068	+	Silent	SNP	G	G	A			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr9:99266068G>A	ENST00000375241.1	-	14	1915	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375242.3_Silent_p.L451L|CDC14B_ENST00000375240.3_Silent_p.L449L|CDC14B_ENST00000463569.1_3'UTR	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	488					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L449L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTGAAATGGAGAGACTACAGG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	9											77	75	75					9																	99266068		2203	4300	6503	98305889	SO:0001819	synonymous_variant	8555			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1719	protein-coding gene	gene with protein product		603505	"CDC14 (cell division cycle 14, S. cerevisiae) homolog B", "CDC14 cell division cycle 14 homolog B (S. cerevisiae)"			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1464C>T	9.37:g.99266068G>A			98305889	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Silent	SNP	ENST00000375241.1	37	CCDS6722.1																																																																																				0.398	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		A	99266068	G	A	99266068	2	1	82	1	0	0	0	0	0	0	0	1	3057	929	33	2		2	CDC14B	9	99266068	Silent	SNP	G	TCGA-13-0765-01A-01W-0372-09		99266068	41947363	11	4277											
LPAR1	1902	genome.wustl.edu	37	9	113704270	113704270	+	Missense_Mutation	SNP	T	T	C	rs371341035		TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr9:113704270T>C	ENST00000374431.3	-	4	607	c.224A>G	c.(223-225)tAt>tGt	p.Y75C	LPAR1_ENST00000538760.1_Missense_Mutation_p.Y76C|LPAR1_ENST00000358883.4_Missense_Mutation_p.Y75C|LPAR1_ENST00000374430.2_Missense_Mutation_p.Y75C|LPAR1_ENST00000541779.1_Missense_Mutation_p.Y76C	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	75					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.Y75C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCGGTTGACATAGATTGCCAC	0.458																																					NSCLC(115;661 2323 9836 34256)											1	Substitution - Missense(1)	ovary(1)	9						T	CYS/TYR,CYS/TYR	0,4406		0,0,2203	87	86	86		224,224	5.4	1	9		86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LPAR1	NM_001401.3,NM_057159.2	194,194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	75/365,75/365	113704270	1,13005	2203	4300	6503	112744091	SO:0001583	missense	1902			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.224A>G	9.37:g.113704270T>C	ENSP00000363553:p.Tyr75Cys		112744091	B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.693733	0.68386	0.0	1.16E-4	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.28400	0.85	0.80722	D	1	D;D;D	0.61697	0.99;0.99;0.99	D;D;D	0.67231	0.95;0.95;0.95	T	0.46679	-0.9174	10	0.56958	D	0.05	.	14.5418	0.67999	0.0:0.0:0.0:1.0	.	76;76;75	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	C	75;76;75;75;57;76;75	ENSP00000363553:Y75C;ENSP00000445697:Y76C;ENSP00000363552:Y75C;ENSP00000351755:Y75C;ENSP00000440201:Y76C;ENSP00000401810:Y75C	ENSP00000351755:Y75C	Y	-	2	0	LPAR1	112744091	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.996000	0.88334	2.049000	0.60858	0.533000	0.62120	TAT		0.458	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		C	113704270	T	C	113704270	3	2	82	1	0	0	0	0	1	0	0	0	8904	1406	49	4	878	4	LPAR1	9	113704270	Missense_Mutation	SNP	T	TCGA-13-0765-01A-01W-0372-09	14438202	113704270	27509161	12	4278											
ATRNL1	26033	genome.wustl.edu	37	10	117154169	117154169	+	Splice_Site	SNP	C	C	G			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr10:117154169C>G	ENST00000355044.3	+	20	3302	c.3176C>G	c.(3175-3177)gCt>gGt	p.A1059G	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Splice_Site_p.A110G	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1059	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A1059G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGACTTACAGCTTGTACATGC	0.333																																																1	Substitution - Missense(1)	ovary(1)	10											136	123	127					10																	117154169		2203	4300	6503	117144159	SO:0001630	splice_region_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3176-1C>G	10.37:g.117154169C>G			117144159	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.54|19.54	3.846834|3.846834	0.71603|0.71603	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.63255|.	-0.03;1.8|.	5.61|5.61	5.61|5.61	0.85477|0.85477	EGF-like, laminin (2);|.	0.097167|.	0.64402|.	D|.	0.000001|.	T|T	0.75803|0.75803	0.3899|0.3899	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.75020|.	0.985;0.985|.	T|T	0.76094|0.76094	-0.3085|-0.3085	9|5	.|.	.|.	.|.	.|.	15.1377|15.1377	0.72583|0.72583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	110;1059|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	G|R	1059;110|142	ENSP00000347152:A1059G;ENSP00000409624:A110G|.	.|.	A|S	+|+	2|3	0|2	ATRNL1|ATRNL1	117144159|117144159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.442000|4.442000	0.59988|0.59988	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Missense_Mutation	G	117154169	C	G	117154169	5	3	82	1	0	0	0	0	0	0	1	0	1207	811	28	3	3254	3	ATRNL1	10	117154169	Splice_Site	SNP	C	TCGA-13-0765-01A-01W-0372-09		117154169	18380578	13	4279											
OR51I2	390064	genome.wustl.edu	37	11	5475451	5475451	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr11:5475451A>G	ENST00000341449.2	+	1	814	c.733A>G	c.(733-735)Atc>Gtc	p.I245V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	245					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I245V(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGTCACATATCCTGGCTGT	0.478																																																1	Substitution - Missense(1)	ovary(1)	11											262	220	234					11																	5475451		2201	4297	6498	5432027	SO:0001583	missense	390064			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.733A>G	11.37:g.5475451A>G	ENSP00000341987:p.Ile245Val		5432027	Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	A	4.644	0.119713	0.08881	.	.	ENSG00000187918	ENST00000341449	T	0.37058	1.22	5.58	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.184247	0.38492	N	0.001662	T	0.27419	0.0673	L	0.49640	1.575	0.27786	N	0.942972	B	0.27823	0.19	B	0.27262	0.078	T	0.21965	-1.0230	10	0.44086	T	0.13	.	3.4334	0.07437	0.6456:0.1433:0.0741:0.137	.	245	Q9H344	O51I2_HUMAN	V	245	ENSP00000341987:I245V	ENSP00000341987:I245V	I	+	1	0	OR51I2	5432027	0.000000	0.05858	0.341000	0.25589	0.040000	0.13550	-0.208000	0.09371	0.509000	0.28195	-0.316000	0.08728	ATC		0.478	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		G	5475451	A	G	5475451	3	3	82	1	0	0	0	0	1	0	0	0	11101	449	16	4	735	4	OR51I2	11	5475451	Missense_Mutation	SNP	A	TCGA-13-0765-01A-01W-0372-09		5475451	129531065	14	4280											
RARRES3	5920	genome.wustl.edu	37	11	63306999	63306999	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr11:63306999G>T	ENST00000255688.3	+	2	69	c.21G>T	c.(19-21)gaG>gaT	p.E7D	RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000439013.2_Missense_Mutation_p.E7D|RARRES3_ENST00000354445.2_Splice_Site_p.K7N	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	7					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)	p.E7D(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CACACCAAGAGCCCAAACCTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	11											108	115	113					11																	63306999		2196	4298	6494	63063575	SO:0001583	missense	5920				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.21G>T	11.37:g.63306999G>T	ENSP00000255688:p.Glu7Asp		63063575	B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	CCDS41662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.74|11.74	1.729540|1.729540	0.30684|0.30684	.|.	.|.	ENSG00000133321|ENSG00000133321	ENST00000439013;ENST00000255688|ENST00000354445	T;T|T	0.23147|0.23754	1.92;1.92|1.89	4.35|4.35	-8.71|-8.71	0.00848|0.00848	.|.	0.153629|.	0.41605|.	U|.	0.000851|.	T|T	0.14013|0.14013	0.0339|0.0339	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	D|.	0.52996|.	0.957|.	D|.	0.74348|.	0.983|.	T|T	0.20338|0.20338	-1.0278|-1.0278	10|7	0.62326|0.41790	D|T	0.03|0.15	.|.	1.6153|1.6153	0.02702|0.02702	0.4536:0.095:0.1655:0.2859|0.4536:0.095:0.1655:0.2859	.|.	7|.	Q9UL19|.	TIG3_HUMAN|.	D|N	7|7	ENSP00000402943:E7D;ENSP00000255688:E7D|ENSP00000346431:K7N	ENSP00000255688:E7D|ENSP00000346431:K7N	E|K	+|+	3|3	2|2	RARRES3|RARRES3	63063575|63063575	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-2.003000|-2.003000	0.01463|0.01463	-2.363000|-2.363000	0.00608|0.00608	0.563000|0.563000	0.77884|0.77884	GAG|AAG		0.557	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			T	63306999	G	T	63306999	3	4	82	1	0	0	0	0	1	0	0	0	13060	962	34	3	27	3	RARRES3	11	63306999	Missense_Mutation	SNP	G	TCGA-13-0765-01A-01W-0372-09	57831548	63306999	71699517	15	4281											
DNAJC14	85406	genome.wustl.edu	37	12	56222202	56222202	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr12:56222202G>A	ENST00000357606.3	-	3	530	c.241C>T	c.(241-243)Cca>Tca	p.P81S	DNAJC14_ENST00000317269.3_Missense_Mutation_p.P81S|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.P81S			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	81					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P81S(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGTGGTCCTGGACCCCCTGGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	12											159	161	160					12																	56222202		2203	4300	6503	54508469	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.241C>T	12.37:g.56222202G>A	ENSP00000350223:p.Pro81Ser		54508469	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579235	0.65878	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445	T;T;T	0.58940	0.3;0.3;0.3	5.65	4.74	0.60224	.	0.245579	0.32593	N	0.005891	T	0.44519	0.1297	N	0.24115	0.695	0.32259	N	0.570353	P;P	0.37061	0.58;0.58	B;B	0.37601	0.254;0.254	T	0.57785	-0.7751	10	0.45353	T	0.12	-4.0035	12.7358	0.57222	0.0:0.1651:0.8349:0.0	.	81;81	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	S	81	ENSP00000350223:P81S;ENSP00000316240:P81S;ENSP00000317500:P81S	ENSP00000316240:P81S	P	-	1	0	DNAJC14	54508469	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.641000	0.61375	1.495000	0.48549	0.650000	0.86243	CCA		0.557	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		A	56222202	G	A	56222202	3	1	82	1	0	0	0	0	1	0	0	0	4633	1174	41	2	1891	2	DNAJC14	12	56222202	Missense_Mutation	SNP	G	TCGA-13-0765-01A-01W-0372-09		56222202	77629693	16	4282											
TDG	6996	genome.wustl.edu	37	12	104379399	104379399	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr12:104379399C>T	ENST00000392872.3	+	9	1217	c.983C>T	c.(982-984)gCt>gTt	p.A328V	TDG_ENST00000266775.9_Missense_Mutation_p.A324V|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.A124V|TDG_ENST00000544861.1_Missense_Mutation_p.A185V	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	328					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.A328V(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAGAAGATGGCTGTTAAGGAA	0.363								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	ovary(1)	12											148	132	138					12																	104379399		2203	4300	6503	102903529	SO:0001583	missense	6996			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.983C>T	12.37:g.104379399C>T	ENSP00000376611:p.Ala328Val		102903529	Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270826	0.80469	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.26810	1.98;1.98;2.03;1.71	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	L	0.61218	1.895	0.80722	D	1	B;B;B	0.30482	0.281;0.013;0.013	B;B;B	0.16289	0.015;0.005;0.005	T	0.03325	-1.1048	10	0.44086	T	0.13	-8.8684	20.1166	0.97939	0.0:1.0:0.0:0.0	.	124;328;328	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	V	328;324;185;124	ENSP00000376611:A328V;ENSP00000266775:A324V;ENSP00000445899:A185V;ENSP00000439054:A124V	ENSP00000266775:A324V	A	+	2	0	TDG	102903529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.806000	0.86020	2.758000	0.94735	0.655000	0.94253	GCT		0.363	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			T	104379399	C	T	104379399	3	4	82	1	0	0	0	0	1	0	0	0	15725	797	28	2	1017	2	TDG	12	104379399	Missense_Mutation	SNP	C	TCGA-13-0765-01A-01W-0372-09	48157197	104379399	29472496	17	4283											
GSX1	219409	genome.wustl.edu	37	13	28368002	28368002	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr13:28368002A>T	ENST00000302945.2	+	2	760	c.712A>T	c.(712-714)Aag>Tag	p.K238*		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	238					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.K238*(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CTCCTCAGCCAAGTGCTCCGA	0.672																																																1	Substitution - Nonsense(1)	ovary(1)	13											35	34	34					13																	28368002		2203	4300	6503	27266002	SO:0001587	stop_gained	219409			AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.712A>T	13.37:g.28368002A>T	ENSP00000304331:p.Lys238*		27266002	Q9UD62	Nonsense_Mutation	SNP	ENST00000302945.2	37	CCDS9326.1	.	.	.	.	.	.	.	.	.	.	A	35	5.557988	0.96514	.	.	ENSG00000169840	ENST00000302945	.	.	.	4.63	4.63	0.57726	.	0.597438	0.17182	N	0.183834	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0042	0.64453	1.0:0.0:0.0:0.0	.	.	.	.	X	238	.	ENSP00000304331:K238X	K	+	1	0	GSX1	27266002	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	3.231000	0.51294	1.708000	0.51301	0.459000	0.35465	AAG		0.672	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		T	28368002	A	T	28368002	4	4	82	1	0	0	0	0	0	1	0	0	6849	131	5	5	718	5	GSX1	13	28368002	Nonsense_Mutation	SNP	A	TCGA-13-0765-01A-01W-0372-09		28368002	86801876	18	4284											
ZNF592	9640	genome.wustl.edu	37	15	85327688	85327688	+	Silent	SNP	C	C	T	rs138523629		TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr15:85327688C>T	ENST00000560079.2	+	4	2070	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	ZNF592_ENST00000299927.3_Silent_p.D594D	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	594					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D594D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTGTGGAGACGCATTTGCCT	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		19326	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	15						C		1,4405	2.1+/-5.4	0,1,2202	114	111	112		1782	-5.2	0.7	15	dbSNP_134	112	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZNF592	NM_014630.2		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		594/1268	85327688	2,13002	2203	4299	6502	83128692	SO:0001819	synonymous_variant	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1782C>T	15.37:g.85327688C>T			83128692	Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	CCDS32317.1																																																																																				0.612	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		T	85327688	C	T	85327688	2	4	82	1	0	0	0	0	0	0	0	1	18022	535	19	1		1	ZNF592	15	85327688	Silent	SNP	C	TCGA-13-0765-01A-01W-0372-09		85327688	17203704	19	4285											
PPL	5493	genome.wustl.edu	37	16	4937135	4937135	+	Splice_Site	SNP	C	C	T			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr16:4937135C>T	ENST00000345988.2	-	21	2697		c.e21+1		PPL_ENST00000590782.2_Splice_Site	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin						keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.?(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGATCAGTTACCTGTCTGAGG	0.438																																																1	Unknown(1)	ovary(1)	16											169	175	173					16																	4937135		2197	4300	6497	4877136	SO:0001630	splice_region_variant	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2607+1G>A	16.37:g.4937135C>T			4877136	O60314|O60454|Q14C98	Splice_Site	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394007	0.83011	.	.	ENSG00000118898	ENST00000345988	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPL	4877136	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.456000	0.80751	2.689000	0.91719	0.655000	0.94253	.		0.438	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	Intron	T	4937135	C	T	4937135	5	4	82	1	0	0	0	0	0	0	1	0	12337	521	18	2	2670	2	PPL	16	4937135	Splice_Site	SNP	C	TCGA-13-0765-01A-01W-0372-09		4937135	85417618	20	4286											
SCNN1G	6340	genome.wustl.edu	37	16	23205520	23205520	+	Missense_Mutation	SNP	C	C	T	rs543639039		TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr16:23205520C>T	ENST00000300061.2	+	5	981	c.838C>T	c.(838-840)Cat>Tat	p.H280Y	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	280					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.H280Y(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCACCCGATGCATGGGAATTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	16											113	108	110					16																	23205520		2197	4300	6497	23113021	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.838C>T	16.37:g.23205520C>T	ENSP00000300061:p.His280Tyr		23113021	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	2.417	-0.333984	0.05278	.	.	ENSG00000166828	ENST00000300061	T	0.59502	0.26	5.04	1.33	0.21861	.	0.417145	0.22551	N	0.058594	T	0.18045	0.0433	N	0.00630	-1.315	0.21627	N	0.999613	B	0.02656	0.0	B	0.06405	0.002	T	0.36432	-0.9748	10	0.02654	T	1	-10.1092	7.7872	0.29099	0.0:0.4522:0.0:0.5478	.	280	P51170	SCNNG_HUMAN	Y	280	ENSP00000300061:H280Y	ENSP00000300061:H280Y	H	+	1	0	SCNN1G	23113021	0.990000	0.36364	0.997000	0.53966	0.994000	0.84299	0.190000	0.17057	0.273000	0.22049	0.655000	0.94253	CAT		0.493	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		T	23205520	C	T	23205520	3	4	82	1	0	0	0	0	1	0	0	0	13933	710	25	2	852	2	SCNN1G	16	23205520	Missense_Mutation	SNP	C	TCGA-13-0765-01A-01W-0372-09	18268385	23205520	67149233	21	4287											
GLG1	2734	genome.wustl.edu	37	16	74485996	74485996	+	3'UTR	SNP	T	T	G			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	T	T	G	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr16:74485996T>G	ENST00000422840.2	-	0	4608				GLG1_ENST00000447066.2_Missense_Mutation_p.K1179N|GLG1_ENST00000205061.5_Missense_Mutation_p.K1190N|RP11-252A24.7_ENST00000566788.1_lincRNA	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1						blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.K1190N(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACACTAAACCTTTATAAGCCA	0.502																																																1	Substitution - Missense(1)	ovary(1)	16											140	115	123					16																	74485996		2198	4300	6498	73043497	SO:0001624	3_prime_UTR_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.*1069A>C	16.37:g.74485996T>G			73043497	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849236	0.51270	.	.	ENSG00000090863	ENST00000205061;ENST00000447066	.	.	.	4.71	1.11	0.20524	.	0.560844	0.14679	N	0.304858	T	0.27063	0.0663	.	.	.	0.09310	N	1	B;B	0.22146	0.065;0.039	B;B	0.18871	0.023;0.01	T	0.17501	-1.0367	8	0.49607	T	0.09	-17.4149	4.4212	0.11481	0.0:0.181:0.1685:0.6505	.	1190;1179	Q92896-2;B7Z8Y4	.;.	N	1190;1179	.	ENSP00000205061:K1190N	K	-	3	2	GLG1	73043497	0.003000	0.15002	0.002000	0.10522	0.980000	0.70556	0.377000	0.20552	-0.019000	0.14055	0.533000	0.62120	AAA		0.502	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		G	74485996	T	G	74485996	1	3	82	0	1	0	0	0	0	0	0	0	6436	1606	56	5		5	GLG1	16	74485996	3'UTR	SNP	T	TCGA-13-0765-01A-01W-0372-09	51280476	74485996	15868757	22	4288											
TP53	7157	genome.wustl.edu	37	17	7577146	7577147	+	In_Frame_Ins	INS	-	-	AGATTACCACTACTC			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	-	-	-	AGATTACCACTACTC	-	-	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr17:7577146_7577147insAGATTACCACTACTC	ENST00000269305.4	-	8	980_981	c.791_792insGAGTAGTGGTAATCT	c.(790-792)cta>ctGAGTAGTGGTAATCTa	p.264_264L>LSSGNL	TP53_ENST00000445888.2_In_Frame_Ins_p.264_264L>LSSGNL|TP53_ENST00000420246.2_In_Frame_Ins_p.264_264L>LSSGNL|TP53_ENST00000455263.2_In_Frame_Ins_p.264_264L>LSSGNL|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Ins_p.264_264L>LSSGNL	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	264	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> I (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> Q (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L264del(4)|p.?(4)|p.G262_F270delGNLLGRNSF(2)|p.L265del(2)|p.G262_S269delGNLLGRNS(2)|p.S261_L264>R(1)|p.N263fs*5(1)|p.264_265insSSGNL(1)|p.L264R(1)|p.E258fs*71(1)|p.L265fs*81(1)|p.G262fs*2(1)|p.L264fs*81(1)|p.L264P(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)	TCCGTCCCAGTAGATTACCACT	0.52		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"	31	Deletion - In frame(10)|Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(4)|Substitution - Missense(2)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	ovary(5)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|central_nervous_system(2)|lung(2)|eye(1)|kidney(1)|urinary_tract(1)|liver(1)|skin(1)|stomach(1)|breast(1)	17																																								7517872	SO:0001652	inframe_insertion	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.791_792insGAGTAGTGGTAATCT	17.37:g.7577146_7577147insAGATTACCACTACTC	ENSP00000269305:p.SerSerGlyAsnLeu264dup		7517871	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	In_Frame_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.52	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		AGATTACCACTACTC	7577147	-	AGATTACCACTACTC	7577146	7	5	82	1	0	1	1	0	0	0	0	0	16381	1625	57	0	494	0	TP53	17	7577146	In_Frame_Ins	INS	-	TCGA-13-0765-01A-01W-0372-09		7577146	73618064	23	4289											
SLC39A11	201266	genome.wustl.edu	37	17	71084828	71084829	+	Missense_Mutation	DNP	CC	CC	AG	rs375622892		TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	CC	CC	CC	AG	CC	CC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chr17:71084828_71084829CC>AG	ENST00000542342.2	-	2	163_164	c.75_76GG>CT	c.(73-78)ggGGca>ggCTca	p.A26S	SLC39A11_ENST00000579732.1_Missense_Mutation_p.A26S|SLC39A11_ENST00000255559.3_Missense_Mutation_p.A26S	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	26					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ACGAGAGCTGCCCCAGCTGCTG	0.579																																					NSCLC(95;736 1527 12296 39625 41839)											0			17																																								68596424	SO:0001583	missense	201266			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"Solute carriers"	14463	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 26"	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.75_76delinsAG	17.37:g.71084828_71084829delinsAG	ENSP00000445829:p.Ala26Ser		68596423	B2R8H7|Q8WZ81	Missense_Mutation	DNP	ENST00000542342.2	37	CCDS54160.1																																																																																				0.579	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1			AG	71084829	CC	AG	71084828	3	1	82	1	0	0	0	0	1	0	0	0	14617	739	26	3	988	3	SLC39A11	17	71084828	Missense_Mutation	DNP	CC	TCGA-13-0765-01A-01W-0372-09	63507682	71084828	10110382	24	4290											
CYLC1	1538	genome.wustl.edu	37	X	83128902	83128902	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chrX:83128902A>C	ENST00000329312.4	+	4	1223	c.1186A>C	c.(1186-1188)Aag>Cag	p.K396Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	396					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K395Q(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAATGATGACAAGAAAAAGGA	0.343																																																1	Substitution - Missense(1)	ovary(1)	X											30	25	26					X																	83128902		2195	4289	6484	83015558	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1186A>C	X.37:g.83128902A>C	ENSP00000331556:p.Lys396Gln		83015558	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	5.796	0.331108	0.10956	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.26660	1.72	3.85	3.85	0.44370	.	.	.	.	.	T	0.38161	0.1030	L	0.47190	1.495	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.964;0.943	T	0.09640	-1.0665	9	0.31617	T	0.26	2.0408	8.2041	0.31443	1.0:0.0:0.0:0.0	.	396;396	P35663;F5H4V5	CYLC1_HUMAN;.	Q	396	ENSP00000331556:K396Q	ENSP00000331556:K396Q	K	+	1	0	CYLC1	83015558	0.836000	0.29430	0.023000	0.16930	0.030000	0.12068	2.038000	0.41184	1.526000	0.49068	0.486000	0.48141	AAG		0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		C	83128902	A	C	83128902	3	2	82	1	0	0	0	0	1	0	0	0	4141	131	5	5	1200	5	CYLC1	23	83128902	Missense_Mutation	SNP	A	TCGA-13-0765-01A-01W-0372-09		83128902	72141658	25	4291											
ARMCX5	64860	genome.wustl.edu	37	X	101858100	101858100	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0765-01A-01W-0372-09	TCGA-13-0765-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5bcfe3ea-d95e-47ff-9718-6b123d3acaef	8d32f44c-7848-4273-bb0b-e1ea995e552b	g.chrX:101858100C>G	ENST00000604957.1	+	1	3653	c.1031C>G	c.(1030-1032)aCt>aGt	p.T344S	RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.T344S|ARMCX5_ENST00000537008.1_Missense_Mutation_p.T344S|ARMCX5_ENST00000536530.1_Missense_Mutation_p.T344S|ARMCX5_ENST00000372742.1_Missense_Mutation_p.T344S|ARMCX5_ENST00000541409.1_Missense_Mutation_p.T344S|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	344								p.T344S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TATCCATTTACTCAAGATATA	0.348																																																1	Substitution - Missense(1)	ovary(1)	X											95	93	94					X																	101858100		2203	4300	6503	101744756	SO:0001583	missense	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1031C>G	X.37:g.101858100C>G	ENSP00000474720:p.Thr344Ser		101744756	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654616	0.29425	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	3.66	3.66	0.41972	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.40728	N	0.001039	T	0.40247	0.1109	L	0.43152	1.355	0.26636	N	0.972376	D	0.76494	0.999	D	0.81914	0.995	T	0.14200	-1.0481	10	0.14656	T	0.56	-9.2117	9.9289	0.41510	0.0:1.0:0.0:0.0	.	344	Q6P1M9	ARMX5_HUMAN	S	344	ENSP00000246174:T344S;ENSP00000439001:T344S;ENSP00000446385:T344S;ENSP00000445851:T344S;ENSP00000361827:T344S	ENSP00000246174:T344S	T	+	2	0	ARMCX5	101744756	0.934000	0.31675	0.985000	0.45067	0.983000	0.72400	1.651000	0.37302	2.092000	0.63282	0.600000	0.82982	ACT		0.348	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		G	101858100	C	G	101858100	3	3	82	1	0	0	0	0	1	0	0	0	962	565	20	3	1033	3	ARMCX5	23	101858100	Missense_Mutation	SNP	C	TCGA-13-0765-01A-01W-0372-09	18729198	101858100	53412460	26	4292											
CLCNKA	1187	genome.wustl.edu	37	1	16351308	16351308	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr1:16351308C>T	ENST00000331433.4	+	4	299	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	CLCNKA_ENST00000420078.1_Missense_Mutation_p.L94F|CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000375692.1_Missense_Mutation_p.L94F			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	94					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.L94F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCTCCGGTATCTTTCCTGGAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											139	105	116					1																	16351308		2203	4300	6503	16223895	SO:0001583	missense	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.280C>T	1.37:g.16351308C>T	ENSP00000332771:p.Leu94Phe		16223895	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811738	0.32053	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000331433	D;D;D	0.93763	-3.28;-3.28;-3.28	4.0	3.07	0.35406	Chloride channel, core (2);	0.201923	0.43747	D	0.000538	D	0.91081	0.7193	M	0.68593	2.085	0.80722	D	1	B;B	0.15719	0.014;0.014	B;B	0.17433	0.018;0.018	D	0.88025	0.2771	10	0.52906	T	0.07	.	10.4825	0.44702	0.1942:0.8058:0.0:0.0	.	94;94	Q5T5Q4;P51800	.;CLCKA_HUMAN	F	94	ENSP00000364844:L94F;ENSP00000410353:L94F;ENSP00000332771:L94F	ENSP00000332771:L94F	L	+	1	0	CLCNKA	16223895	0.945000	0.32115	0.992000	0.48379	0.948000	0.59901	1.472000	0.35376	1.001000	0.39076	0.462000	0.41574	CTT		0.627	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			T	16351308	C	T	16351308	3	4	83	1	0	0	0	0	1	0	0	0	3469	913	32	2	290	2	CLCNKA	1	16351308	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09		16351308	232899313	1	4293											
ZNF683	257101	genome.wustl.edu	37	1	26694252	26694252	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr1:26694252C>G	ENST00000436292.1	-	3	271	c.151G>C	c.(151-153)Gat>Cat	p.D51H	ZNF683_ENST00000403843.1_Missense_Mutation_p.D51H|ZNF683_ENST00000349618.3_Missense_Mutation_p.D51H|ZNF683_ENST00000374204.1_Missense_Mutation_p.D51H			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	51					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D36H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCATGAGCATCCACCATGTCT	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											26	23	24					1																	26694252		2203	4299	6502	26566839	SO:0001583	missense	257101			BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.151G>C	1.37:g.26694252C>G	ENSP00000388792:p.Asp51His		26566839	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37		.	.	.	.	.	.	.	.	.	.	C	16.04	3.011438	0.54468	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T	0.39997	2.37;2.37;2.29;2.29;1.44;1.45;1.05;1.07	4.27	2.21	0.28008	.	0.533034	0.15766	N	0.245709	T	0.38241	0.1033	L	0.32530	0.975	0.09310	N	1	D;D	0.57899	0.981;0.968	P;P	0.52109	0.69;0.493	T	0.13926	-1.0491	10	0.54805	T	0.06	-2.3527	6.0447	0.19753	0.0:0.7325:0.0:0.2675	.	51;51	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	H	51;51;51;51;59;51;59;51	ENSP00000384782:D51H;ENSP00000388792:D51H;ENSP00000363320:D51H;ENSP00000344095:D51H;ENSP00000411289:D59H;ENSP00000411290:D51H;ENSP00000391584:D59H;ENSP00000401961:D51H	ENSP00000344095:D51H	D	-	1	0	ZNF683	26566839	0.214000	0.23563	0.026000	0.17262	0.568000	0.35870	1.445000	0.35079	0.386000	0.24997	-0.355000	0.07637	GAT		0.642	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		G	26694252	C	G	26694252	3	3	83	1	0	0	0	0	1	0	0	0	18090	855	30	3	1379	3	ZNF683	1	26694252	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09	10342944	26694252	222556369	2	4294											
MTF1	4520	genome.wustl.edu	37	1	38304313	38304313	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr1:38304313C>T	ENST00000373036.4	-	4	903	c.763G>A	c.(763-765)Ggg>Agg	p.G255R		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	255					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.G255R(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCTTTTCCCCTGTATGAGTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											155	131	139					1																	38304313		2203	4300	6503	38076900	SO:0001583	missense	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.763G>A	1.37:g.38304313C>T	ENSP00000362127:p.Gly255Arg		38076900	B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190728	0.58017	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.26223	1.75	5.22	5.22	0.72569	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053192	0.85682	D	0.000000	T	0.28532	0.0706	M	0.65320	2	0.58432	D	0.999997	B	0.22909	0.077	B	0.23419	0.046	T	0.05068	-1.0908	10	0.51188	T	0.08	.	12.4979	0.55940	0.0:0.9231:0.0:0.0768	.	255	Q14872	MTF1_HUMAN	R	255;123	ENSP00000362127:G255R	ENSP00000362127:G255R	G	-	1	0	MTF1	38076900	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.924000	0.70054	2.590000	0.87494	0.563000	0.77884	GGG		0.428	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		T	38304313	C	T	38304313	3	4	83	1	0	0	0	0	1	0	0	0	9922	681	24	2	1530	2	MTF1	1	38304313	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09	11610061	38304313	210946308	3	4295											
KCNA3	3738	genome.wustl.edu	37	1	111216633	111216633	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr1:111216633C>T	ENST00000369769.2	-	1	1022	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	267					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.A267T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GACGTCGAGGCGGGGTAGTCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											42	45	44					1																	111216633		2203	4300	6503	111018156	SO:0001583	missense	3738			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.799G>A	1.37:g.111216633C>T	ENSP00000358784:p.Ala267Thr		111018156	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.407959	0.01155	.	.	ENSG00000177272	ENST00000369769	D	0.96802	-4.13	4.75	-1.36	0.09085	.	0.000000	0.31323	U	0.007857	T	0.73560	0.3602	N	0.03071	-0.42	0.09310	N	1	B	0.18310	0.027	B	0.09377	0.004	T	0.73503	-0.3962	10	0.18276	T	0.48	.	8.1487	0.31128	0.3976:0.343:0.2594:0.0	.	267	P22001	KCNA3_HUMAN	T	267	ENSP00000358784:A267T	ENSP00000358784:A267T	A	-	1	0	KCNA3	111018156	0.002000	0.14202	0.041000	0.18516	0.397000	0.30659	-0.058000	0.11750	-0.214000	0.10078	-0.268000	0.10319	GCC		0.637	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		T	111216633	C	T	111216633	3	4	83	1	0	0	0	0	1	0	0	0	8004	768	27	1	932	1	KCNA3	1	111216633	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09	72912320	111216633	138033988	4	4296											
SV2A	9900	genome.wustl.edu	37	1	149882378	149882378	+	Splice_Site	SNP	C	C	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr1:149882378C>A	ENST00000369146.3	-	4	1445	c.955G>T	c.(955-957)Ggg>Tgg	p.G319W	SV2A_ENST00000369145.1_Splice_Site_p.G319W	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	319					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.G319W(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGCTGCTCACCATAGTGGGGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											47	49	48					1																	149882378		2203	4300	6503	148149002	SO:0001630	splice_region_variant	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.955+1G>T	1.37:g.149882378C>A			148149002	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150674	0.78001	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.71934	-0.61;-0.61	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90058	0.4154	9	.	.	.	-23.1236	15.8174	0.78615	0.0:1.0:0.0:0.0	.	319	Q7L0J3	SV2A_HUMAN	W	319	ENSP00000358142:G319W;ENSP00000358141:G319W	.	G	-	1	0	SV2A	148149002	1.000000	0.71417	0.971000	0.41717	0.778000	0.44026	7.651000	0.83577	2.591000	0.87537	0.585000	0.79938	GGG		0.592	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1		Missense_Mutation	A	149882378	C	A	149882378	5	1	83	1	0	0	0	0	0	0	1	0	15417	608	21	3	1313	3	SV2A	1	149882378	Splice_Site	SNP	C	TCGA-13-0791-01A-01W-0372-09	38665745	149882378	99368243	5	4297											
MEF2D	4209	genome.wustl.edu	37	1	156452248	156452248	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr1:156452248G>C	ENST00000348159.4	-	3	719	c.239C>G	c.(238-240)aCc>aGc	p.T80S	MEF2D_ENST00000353795.3_Missense_Mutation_p.T80S|Y_RNA_ENST00000383924.1_RNA|MEF2D_ENST00000464356.2_Missense_Mutation_p.T80S|MEF2D_ENST00000340875.5_Missense_Mutation_p.T80S|MEF2D_ENST00000360595.3_Missense_Mutation_p.T80S|MEF2D_ENST00000368240.2_Missense_Mutation_p.T80S	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	80					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T80S(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCGGCGTTGGTGCGGCTCTC	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											357	287	311					1																	156452248		2203	4300	6503	154718872	SO:0001583	missense	4209			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.239C>G	1.37:g.156452248G>C	ENSP00000271555:p.Thr80Ser		154718872	D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825415	0.90955	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000541336;ENST00000454816	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.05	5.05	0.67936	Transcription factor, MADS-box (1);	0.000000	0.85682	D	0.000000	D	0.88883	0.6558	M	0.74258	2.255	0.80722	D	1	D;D;P	0.69078	0.997;0.993;0.839	D;P;P	0.67382	0.951;0.898;0.826	D	0.90316	0.4341	10	0.87932	D	0	-24.9863	16.9801	0.86325	0.0:0.0:1.0:0.0	.	85;80;80	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	S	80	ENSP00000271555:T80S;ENSP00000343159:T80S;ENSP00000357223:T80S;ENSP00000344705:T80S;ENSP00000353803:T80S;ENSP00000388505:T80S	ENSP00000343159:T80S	T	-	2	0	MEF2D	154718872	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.824000	0.99380	2.359000	0.80004	0.561000	0.74099	ACC		0.572	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		C	156452248	G	C	156452248	3	2	83	1	0	0	0	0	1	0	0	0	9458	1261	44	3	1366	3	MEF2D	1	156452248	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	6569870	156452248	92798373	6	4298											
TLR5	7100	genome.wustl.edu	37	1	223286050	223286050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr1:223286050G>T	ENST00000540964.1	-	4	785	c.324C>A	c.(322-324)taC>taA	p.Y108*	TLR5_ENST00000342210.6_Nonsense_Mutation_p.Y108*			O60602	TLR5_HUMAN	toll-like receptor 5	108					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.Y108*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GATGCAAGAAGTATATCTTAC	0.443																																																1	Substitution - Nonsense(1)	ovary(1)	1											91	90	90					1																	223286050		2203	4300	6503	221352673	SO:0001587	stop_gained	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.324C>A	1.37:g.223286050G>T	ENSP00000440643:p.Tyr108*		221352673	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Nonsense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136326	0.77662	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	.	.	.	5.03	-0.94	0.10405	.	1.363710	0.04854	N	0.442837	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.1674	0.06540	0.173:0.3389:0.3673:0.1208	.	.	.	.	X	108	.	ENSP00000340089:Y108X	Y	-	3	2	TLR5	221352673	0.000000	0.05858	0.019000	0.16419	0.515000	0.34225	-0.216000	0.09266	-0.042000	0.13535	0.655000	0.94253	TAC		0.443	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		T	223286050	G	T	223286050	4	4	83	1	0	0	0	0	0	1	0	0	15954	1024	36	3	2256	3	TLR5	1	223286050	Nonsense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	66833802	223286050	25964571	7	4299											
CHRM3	1131	genome.wustl.edu	37	1	240072078	240072078	+	Missense_Mutation	SNP	G	G	A	rs144239896		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr1:240072078G>A	ENST00000255380.4	+	5	2106	c.1327G>A	c.(1327-1329)Gtc>Atc	p.V443I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	443					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.V443I(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GACTTCTGACGTCAACTCCTC	0.537																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	1						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	58	59	59		1327	2.9	0	1	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRM3	NM_000740.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	443/591	240072078	2,13004	2203	4300	6503	238138701	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1327G>A	1.37:g.240072078G>A	ENSP00000255380:p.Val443Ile		238138701	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	2.339	-0.351632	0.05173	2.27E-4	1.16E-4	ENSG00000133019	ENST00000255380	T	0.59083	0.29	5.85	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	1.076650	0.07231	N	0.862460	T	0.47116	0.1428	L	0.29908	0.895	0.09310	N	1	B	0.19073	0.033	B	0.26202	0.067	T	0.40627	-0.9553	10	0.40728	T	0.16	-1.2999	7.2987	0.26408	0.1496:0.1385:0.7119:0.0	.	443	P20309	ACM3_HUMAN	I	443	ENSP00000255380:V443I	ENSP00000255380:V443I	V	+	1	0	CHRM3	238138701	0.782000	0.28689	0.010000	0.14722	0.233000	0.25261	4.579000	0.60936	0.353000	0.24079	-0.150000	0.13652	GTC		0.537	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		A	240072078	G	A	240072078	3	1	83	1	0	0	0	0	1	0	0	0	3378	1145	40	1	1329	1	CHRM3	1	240072078	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	16786028	240072078	9178543	8	4300											
APOB	338	genome.wustl.edu	37	2	21233155	21233155	+	Silent	SNP	T	T	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr2:21233155T>C	ENST00000233242.1	-	26	6712	c.6585A>G	c.(6583-6585)aaA>aaG	p.K2195K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2195					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.K2195K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATAGCTATTTTCAAATCAT	0.254																																																1	Substitution - coding silent(1)	ovary(1)	2											31	33	32					2																	21233155		2178	4266	6444	21086660	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6585A>G	2.37:g.21233155T>C			21086660	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.254	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21233155	T	C	21233155	2	2	83	1	0	0	0	0	0	0	0	1	785	1838	64	4		4	APOB	2	21233155	Silent	SNP	T	TCGA-13-0791-01A-01W-0372-09		21233155	221966218	9	4301											
NRXN1	9378	genome.wustl.edu	37	2	50463931	50463931	+	Missense_Mutation	SNP	T	T	A	rs200915287		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr2:50463931T>A	ENST00000406316.2	-	18	5018	c.3542A>T	c.(3541-3543)cAt>cTt	p.H1181L	NRXN1_ENST00000404971.1_Missense_Mutation_p.H1221L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000342183.5_Missense_Mutation_p.H146L|NRXN1_ENST00000406859.3_Missense_Mutation_p.H1181L|NRXN1_ENST00000401710.1_Missense_Mutation_p.H199L|NRXN1_ENST00000402717.3_Missense_Mutation_p.H1173L|NRXN1_ENST00000405472.3_Missense_Mutation_p.H1173L|NRXN1_ENST00000401669.2_Missense_Mutation_p.H1181L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1181	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.H146L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTTACTATATGCAGTTCTAG	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											93	84	87					2																	50463931		2203	4300	6503	50317435	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3542A>T	2.37:g.50463931T>A	ENSP00000384311:p.His1181Leu		50317435	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.870770	0.72065	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.187162	0.34411	U	0.003987	D	0.85961	0.5819	L	0.61387	1.9	0.58432	D	0.999995	P;D;P;P	0.62365	0.785;0.991;0.907;0.924	P;D;P;P	0.67382	0.452;0.951;0.631;0.832	D	0.87279	0.2291	10	0.72032	D	0.01	.	15.9365	0.79712	0.0:0.0:0.0:1.0	.	1221;146;1181;1173	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	L	146;100;199;1221;1181;1173;1181;1222;1173;1181	ENSP00000341184:H146L;ENSP00000385580:H199L;ENSP00000385142:H1221L;ENSP00000384311:H1181L;ENSP00000434015:H1173L;ENSP00000385017:H1181L;ENSP00000385434:H1173L;ENSP00000385681:H1181L	ENSP00000341184:H146L	H	-	2	0	NRXN1	50317435	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.871000	0.87180	2.164000	0.68074	0.528000	0.53228	CAT		0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50463931	T	A	50463931	3	1	83	1	0	0	0	0	1	0	0	0	10665	1464	51	5	1005	5	NRXN1	2	50463931	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	29230776	50463931	192735442	10	4302											
C2orf3	6936	genome.wustl.edu	37	2	75928348	75928348	+	Nonsense_Mutation	SNP	G	G	A	rs35854365		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr2:75928348G>A	ENST00000321027.3	-	4	818	c.685C>T	c.(685-687)Cag>Tag	p.Q229*	GCFC2_ENST00000409857.3_Nonsense_Mutation_p.Q191*|GCFC2_ENST00000541687.1_Nonsense_Mutation_p.Q229*	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	229					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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.Q229*(1)									CTCATTTGCTGTTGTTCCCAA	0.353																																																1	Substitution - Nonsense(1)	ovary(1)	2											223	184	197					2																	75928348		2203	4299	6502	75781856	SO:0001587	stop_gained	6936			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.685C>T	2.37:g.75928348G>A	ENSP00000318690:p.Gln229*		75781856	A4UHQ8|O95032|Q53TY0|Q6P2F2	Nonsense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297009	0.81025	.	.	ENSG00000005436	ENST00000321027;ENST00000541687;ENST00000409857;ENST00000442309	.	.	.	4.85	3.97	0.46021	.	0.124991	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-15.7266	11.736	0.51765	0.0892:0.0:0.9108:0.0	.	.	.	.	X	229;229;191;154	.	ENSP00000318690:Q229X	Q	-	1	0	C2orf3	75781856	1.000000	0.71417	0.984000	0.44739	0.160000	0.22226	4.991000	0.63883	1.358000	0.45922	0.655000	0.94253	CAG		0.353	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		A	75928348	G	A	75928348	4	1	83	1	0	0	0	0	0	1	0	0	2162	1386	48	2	1716	2	C2orf3	2	75928348	Nonsense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	25464417	75928348	167271025	11	4303											
CNTNAP5	129684	genome.wustl.edu	37	2	125660527	125660527	+	Missense_Mutation	SNP	G	G	A	rs375640846		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr2:125660527G>A	ENST00000431078.1	+	22	3866	c.3502G>A	c.(3502-3504)Gtc>Atc	p.V1168I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1168	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V1168I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATGTCTTCCGTCCAGTACAA	0.493																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	2						G	ILE/VAL	1,4133		0,1,2066	65	66	66		3502	5.5	1	2		66	0,8442		0,0,4221	no	missense	CNTNAP5	NM_130773.2	29	0,1,6287	AA,AG,GG		0.0,0.0242,0.0080	probably-damaging	1168/1307	125660527	1,12575	2067	4221	6288	125376997	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3502G>A	2.37:g.125660527G>A	ENSP00000399013:p.Val1168Ile		125376997	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210686	0.58343	2.42E-4	0.0	ENSG00000155052	ENST00000431078	T	0.79845	-1.31	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.44097	D	0.000491	D	0.91683	0.7371	M	0.90650	3.135	0.52501	D	0.999955	D	0.76494	0.999	D	0.81914	0.995	D	0.92645	0.6128	10	0.59425	D	0.04	.	18.4001	0.90513	0.0:0.0:1.0:0.0	.	1168	Q8WYK1	CNTP5_HUMAN	I	1168	ENSP00000399013:V1168I	ENSP00000399013:V1168I	V	+	1	0	CNTNAP5	125376997	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	7.339000	0.79282	2.597000	0.87782	0.655000	0.94253	GTC		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125660527	G	A	125660527	3	1	83	1	0	0	0	0	1	0	0	0	3650	1145	40	1	3588	1	CNTNAP5	2	125660527	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	49732179	125660527	117538846	12	4304											
SPATS2L	26010	genome.wustl.edu	37	2	201284181	201284181	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr2:201284181T>A	ENST00000358677.5	+	6	654	c.407T>A	c.(406-408)aTa>aAa	p.I136K	SPATS2L_ENST00000409755.3_Missense_Mutation_p.I166K|SPATS2L_ENST00000409151.1_Missense_Mutation_p.I144K|SPATS2L_ENST00000409718.1_Missense_Mutation_p.I136K|SPATS2L_ENST00000360760.5_Missense_Mutation_p.I136K|SPATS2L_ENST00000409988.3_Missense_Mutation_p.I136K|SPATS2L_ENST00000409385.1_Missense_Mutation_p.I76K|SPATS2L_ENST00000451764.2_Missense_Mutation_p.I136K|SPATS2L_ENST00000409140.3_Missense_Mutation_p.I136K	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	136						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.I136K(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAGATCTCGATACTTGAGGAA	0.463																																																1	Substitution - Missense(1)	ovary(1)	2											43	44	44					2																	201284181		1941	4134	6075	200992426	SO:0001583	missense	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.407T>A	2.37:g.201284181T>A	ENSP00000351503:p.Ile136Lys		200992426	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	T	5.910	0.351997	0.11182	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000423749;ENST00000457757;ENST00000453663;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151;ENST00000421573;ENST00000449647;ENST00000438761	.	.	.	5.53	4.36	0.52297	.	0.389740	0.24737	N	0.036006	T	0.19167	0.0460	N	0.14661	0.345	0.18873	N	0.999988	B;P;B	0.36535	0.101;0.557;0.324	B;B;B	0.36534	0.062;0.159;0.227	T	0.08617	-1.0713	8	.	.	.	-18.809	6.6125	0.22759	0.0:0.1693:0.0:0.8307	.	166;136;136	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	K	136;136;136;76;136;136;136;136;136;136;136;166;144;136;136;131	.	.	I	+	2	0	SPATS2L	200992426	0.003000	0.15002	0.838000	0.33150	0.503000	0.33858	0.789000	0.26886	2.228000	0.72767	0.528000	0.53228	ATA		0.463	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		A	201284181	T	A	201284181	3	1	83	1	0	0	0	0	1	0	0	0	15022	1406	49	5	421	5	SPATS2L	2	201284181	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	75623654	201284181	41915192	13	4305											
KCNE4	23704	genome.wustl.edu	37	2	223917939	223917939	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr2:223917939T>G	ENST00000281830.3	+	2	875	c.544T>G	c.(544-546)Tcc>Gcc	p.S182A	KCNE4_ENST00000604125.1_Missense_Mutation_p.S131A|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	182						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)	p.S131A(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGAGTCCTCCTCCCCGGACGT	0.657																																																1	Substitution - Missense(1)	ovary(1)	2											42	44	43					2																	223917939		2203	4300	6503	223626183	SO:0001583	missense	23704			AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"Potassium channels"	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.544T>G	2.37:g.223917939T>G	ENSP00000281830:p.Ser182Ala		223626183	B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37		.	.	.	.	.	.	.	.	.	.	T	15.88	2.963480	0.53507	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.17	5.01	0.66863	.	0.246389	0.41938	D	0.000784	T	0.32793	0.0841	L	0.32530	0.975	0.23376	N	0.997808	B	0.23650	0.089	B	0.23852	0.049	T	0.24799	-1.0150	9	0.49607	T	0.09	-15.0805	10.8493	0.46761	0.2517:0.0:0.0:0.7483	.	131	Q8WWG9	KCNE4_HUMAN	A	131	.	ENSP00000281830:S131A	S	+	1	0	KCNE4	223626183	0.932000	0.31603	0.987000	0.45799	0.970000	0.65996	2.381000	0.44336	1.130000	0.42092	0.533000	0.62120	TCC		0.657	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		G	223917939	T	G	223917939	3	3	83	1	0	0	0	0	1	0	0	0	8025	1551	54	5	393	5	KCNE4	2	223917939	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	22633758	223917939	19281434	14	4306											
C2orf85	285093	genome.wustl.edu	37	2	242815214	242815214	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr2:242815214G>A	ENST00000343216.3	+	2	1535	c.1507G>A	c.(1507-1509)Ggc>Agc	p.G503S		NM_173821.2	NP_776182.2												p.G503S(1)									CTTCTCCCAAGGCTATTACCA	0.652																																																1	Substitution - Missense(1)	ovary(1)	2											65	77	73					2																	242815214		2051	4177	6228	242463887	SO:0001583	missense	285093																														ENST00000343216.3:c.1507G>A	2.37:g.242815214G>A	ENSP00000345374:p.Gly503Ser		242463887		Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	15.79	2.936767	0.52972	.	.	ENSG00000188011	ENST00000343216	T	0.28454	1.61	2.14	-1.07	0.09968	.	.	.	.	.	T	0.18676	0.0448	N	0.19112	0.55	0.09310	N	1	P	0.51147	0.942	P	0.45406	0.479	T	0.12578	-1.0542	9	0.87932	D	0	-4.8096	2.8163	0.05457	0.3314:0.2481:0.4205:0.0	.	503	Q14D33	CB085_HUMAN	S	503	ENSP00000345374:G503S	ENSP00000345374:G503S	G	+	1	0	C2orf85	242463887	0.006000	0.16342	0.000000	0.03702	0.696000	0.40369	0.386000	0.20702	-0.290000	0.09025	0.196000	0.17591	GGC		0.652	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			A	242815214	G	A	242815214	3	1	83	1	0	0	0	0	1	0	0	0	2200	1000	35	2	1513	2	C2orf85	2	242815214	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	18897275	242815214	384159	15	4307											
SETD5	55209	genome.wustl.edu	37	3	9512592	9512592	+	Silent	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr3:9512592G>A	ENST00000406341.1	+	18	3364	c.3174G>A	c.(3172-3174)caG>caA	p.Q1058Q	SETD5_ENST00000407969.1_Silent_p.Q1077Q|SETD5_ENST00000402198.1_Silent_p.Q1058Q|SETD5_ENST00000302463.6_Silent_p.Q960Q|SETD5_ENST00000402466.1_Silent_p.Q960Q			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1058								p.Q960Q(1)|p.Q1058Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTGCCCCCCAGAACCCACCAC	0.433																																																2	Substitution - coding silent(2)	ovary(2)	3											15	14	15					3																	9512592		1849	4075	5924	9487592	SO:0001819	synonymous_variant	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3174G>A	3.37:g.9512592G>A			9487592	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885847	0.17540	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.75413	0.3846	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73566	-0.3942	4	.	.	.	-10.3697	19.3917	0.94585	0.0:0.0:1.0:0.0	.	.	.	.	K	726;389	.	.	E	+	1	0	SETD5	9487592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.195000	0.51013	2.585000	0.87301	0.591000	0.81541	GAA		0.433	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		A	9512592	G	A	9512592	2	1	83	1	0	0	0	0	0	0	0	1	14137	933	33	2		2	SETD5	3	9512592	Silent	SNP	G	TCGA-13-0791-01A-01W-0372-09		9512592	188509838	16	4308											
TGFBR2	7048	genome.wustl.edu	37	3	30729881	30729881	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr3:30729881A>C	ENST00000295754.5	+	6	1784	c.1402A>C	c.(1402-1404)Aaa>Caa	p.K468Q	TGFBR2_ENST00000359013.4_Missense_Mutation_p.K493Q	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	468	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.K468Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACAGAAGTAAAAGATTATGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	3											115	109	111					3																	30729881		2203	4300	6503	30704885	SO:0001583	missense	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1402A>C	3.37:g.30729881A>C	ENSP00000295754:p.Lys468Gln		30704885	B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457257	0.84317	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93366	-3.21;-3.21	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93739	0.7999	N	0.25332	0.735	0.58432	D	0.999999	D;D	0.69078	0.997;0.993	D;D	0.70487	0.969;0.958	D	0.94260	0.7501	10	0.51188	T	0.08	.	15.3078	0.74008	1.0:0.0:0.0:0.0	.	468;493	P37173;D2JYI1	TGFR2_HUMAN;.	Q	468;493;298	ENSP00000295754:K468Q;ENSP00000351905:K493Q	ENSP00000295754:K468Q	K	+	1	0	TGFBR2	30704885	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	9.236000	0.95360	2.079000	0.62486	0.482000	0.46254	AAA		0.512	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			C	30729881	A	C	30729881	3	2	83	1	0	0	0	0	1	0	0	0	15822	15	1	5	1503	5	TGFBR2	3	30729881	Missense_Mutation	SNP	A	TCGA-13-0791-01A-01W-0372-09	21217289	30729881	167292549	17	4309											
ITIH1	3697	genome.wustl.edu	37	3	52822297	52822297	+	Silent	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr3:52822297C>T	ENST00000273283.2	+	18	2079	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	ITIH1_ENST00000540715.1_Silent_p.T543T|ITIH1_ENST00000542827.1_Missense_Mutation_p.P640S|ITIH1_ENST00000405128.3_Silent_p.T51T|ITIH1_ENST00000537050.1_Silent_p.T397T	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	685	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T685T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AAGAGGACACCCTGTGCTTCA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	3											126	102	110					3																	52822297		2203	4299	6502	52797337	SO:0001819	synonymous_variant	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2055C>T	3.37:g.52822297C>T			52797337	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392745	0.25118	.	.	ENSG00000055957	ENST00000542827	T	0.01963	4.53	5.39	-2.69	0.06022	.	.	.	.	.	T	0.01124	0.0037	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48210	-0.9055	6	0.17832	T	0.49	-7.364	1.0882	0.01658	0.2256:0.3565:0.2198:0.1981	.	.	.	.	S	640	ENSP00000442584:P640S	ENSP00000442584:P640S	P	+	1	0	ITIH1	52797337	0.000000	0.05858	0.000000	0.03702	0.575000	0.36095	-1.666000	0.01963	-0.591000	0.05859	0.655000	0.94253	CCT		0.567	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		T	52822297	C	T	52822297	2	4	83	1	0	0	0	0	0	0	0	1	7903	610	22	2		2	ITIH1	3	52822297	Silent	SNP	C	TCGA-13-0791-01A-01W-0372-09	22092416	52822297	145200133	18	4310											
HTR1F	3355	genome.wustl.edu	37	3	88040240	88040240	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr3:88040240T>C	ENST00000319595.4	+	1	395	c.341T>C	c.(340-342)cTc>cCc	p.L114P		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	114					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L114P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATCTTGCATCTCTCAGCTATA	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											86	72	77					3																	88040240		2203	4300	6503	88122930	SO:0001583	missense	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.341T>C	3.37:g.88040240T>C	ENSP00000322924:p.Leu114Pro		88122930		Missense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.583963	0.65992	.	.	ENSG00000179097	ENST00000319595	D	0.81659	-1.52	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93684	0.7982	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95612	0.8673	10	0.87932	D	0	.	12.9737	0.58527	0.0:0.0:0.0:1.0	.	114	P30939	5HT1F_HUMAN	P	114	ENSP00000322924:L114P	ENSP00000322924:L114P	L	+	2	0	HTR1F	88122930	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.004000	0.88535	1.964000	0.57103	0.397000	0.26171	CTC		0.448	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		C	88040240	T	C	88040240	3	2	83	1	0	0	0	0	1	0	0	0	7440	1551	54	4	343	4	HTR1F	3	88040240	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	35217943	88040240	109982190	19	4311											
OR5K2	402135	genome.wustl.edu	37	3	98216962	98216962	+	Silent	SNP	A	A	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr3:98216962A>T	ENST00000427338.1	+	1	515	c.438A>T	c.(436-438)acA>acT	p.T146T	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T146T(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGATGACCACAGGCGCCTTCA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	3											145	147	146					3																	98216962		2203	4300	6503	99699652	SO:0001819	synonymous_variant	402135			AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"GPCR / Class A : Olfactory receptors"	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.438A>T	3.37:g.98216962A>T			99699652	B2RN70|Q6IF47	Silent	SNP	ENST00000427338.1	37	CCDS33804.1																																																																																				0.458	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			T	98216962	A	T	98216962	2	4	83	1	0	0	0	0	0	0	0	1	11167	175	7	5		5	OR5K2	3	98216962	Silent	SNP	A	TCGA-13-0791-01A-01W-0372-09	10176722	98216962	99805468	20	4312											
KBTBD12	166348	genome.wustl.edu	37	3	127682210	127682210	+	Silent	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr3:127682210C>T	ENST00000405109.1	+	5	2138	c.1671C>T	c.(1669-1671)tgC>tgT	p.C557C	KBTBD12_ENST00000492025.1_3'UTR|RNA5SP139_ENST00000364340.1_RNA|KBTBD12_ENST00000407609.3_Silent_p.C164C|KBTBD12_ENST00000405256.1_Silent_p.C557C|KBTBD12_ENST00000343941.4_Silent_p.C132C			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	557								p.C557C(1)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TCTATGTCTGCGGGGGATTCC	0.498																																																1	Substitution - coding silent(1)	ovary(1)	3											40	33	35					3																	127682210		2203	4300	6503	129164900	SO:0001819	synonymous_variant	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1671C>T	3.37:g.127682210C>T			129164900	B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	CCDS33848.2																																																																																				0.498	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		T	127682210	C	T	127682210	2	4	83	1	0	0	0	0	0	0	0	1	7991	776	27	1		1	KBTBD12	3	127682210	Silent	SNP	C	TCGA-13-0791-01A-01W-0372-09	29465248	127682210	70340220	21	4313											
CPN2	1370	genome.wustl.edu	37	3	194062030	194062030	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr3:194062030A>T	ENST00000323830.3	-	2	1491	c.1402T>A	c.(1402-1404)Tgg>Agg	p.W468R	CPN2_ENST00000429275.1_Missense_Mutation_p.W468R	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	468					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.W468R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCCAGATCCCAGCTGCCCCCT	0.667																																																1	Substitution - Missense(1)	ovary(1)	3											58	61	60					3																	194062030		2203	4300	6503	195543725	SO:0001583	missense	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1402T>A	3.37:g.194062030A>T	ENSP00000319464:p.Trp468Arg		195543725	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178678	0.57692	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.52526	0.66;0.66	5.56	4.4	0.53042	.	0.000000	0.35207	N	0.003380	T	0.31071	0.0785	L	0.29908	0.895	0.36065	D	0.841695	B	0.21753	0.06	B	0.20577	0.03	T	0.24905	-1.0147	10	0.20046	T	0.44	.	6.8309	0.23909	0.7805:0.0:0.2195:0.0	.	468	P22792	CPN2_HUMAN	R	468	ENSP00000319464:W468R;ENSP00000402232:W468R	ENSP00000319464:W468R	W	-	1	0	CPN2	195543725	0.947000	0.32204	0.695000	0.30226	0.882000	0.50991	1.416000	0.34759	1.045000	0.40225	0.533000	0.62120	TGG		0.667	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		T	194062030	A	T	194062030	3	4	83	1	0	0	0	0	1	0	0	0	3810	188	7	5	239	5	CPN2	3	194062030	Missense_Mutation	SNP	A	TCGA-13-0791-01A-01W-0372-09	66379820	194062030	3960400	22	4314											
TLR6	10333	genome.wustl.edu	37	4	38829983	38829983	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr4:38829983T>C	ENST00000381950.1	-	1	1177	c.1112A>G	c.(1111-1113)gAa>gGa	p.E371G	TLR6_ENST00000436693.2_Missense_Mutation_p.E371G			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	371					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E371G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAACATTTTTCAAAAATACT	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											43	45	44					4																	38829983		2202	4300	6502	38506378	SO:0001583	missense	10333				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1112A>G	4.37:g.38829983T>C	ENSP00000371376:p.Glu371Gly		38506378	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628975	0.28978	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.53206	0.63;0.63	5.15	3.9	0.45041	.	0.538617	0.18974	N	0.126058	T	0.41834	0.1176	L	0.47190	1.495	0.21915	N	0.999477	B	0.13594	0.008	B	0.17722	0.019	T	0.43310	-0.9399	10	0.72032	D	0.01	.	11.8156	0.52209	0.0:0.0:0.1465:0.8535	.	371	Q9Y2C9	TLR6_HUMAN	G	371	ENSP00000389600:E371G;ENSP00000371376:E371G	ENSP00000371376:E371G	E	-	2	0	TLR6	38506378	0.138000	0.22547	0.976000	0.42696	0.732000	0.41865	2.005000	0.40864	1.940000	0.56252	0.402000	0.26972	GAA		0.348	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			C	38829983	T	C	38829983	3	2	83	1	0	0	0	0	1	0	0	0	15955	1783	62	4	1282	4	TLR6	4	38829983	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09		38829983	152324293	23	4315											
FAT1	2195	genome.wustl.edu	37	4	187557245	187557245	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr4:187557245C>T	ENST00000441802.2	-	6	4326	c.4117G>A	c.(4117-4119)Gtt>Att	p.V1373I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1373	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1373I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGTGAGCAACGGGGTCACTT	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											1	Substitution - Missense(1)	ovary(1)	4											71	69	69					4																	187557245		1881	4111	5992	187794239	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4117G>A	4.37:g.187557245C>T	ENSP00000406229:p.Val1373Ile		187794239		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785063	0.90282	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.71341	-0.56	5.4	5.4	0.78164	Cadherin (2);Cadherin-like (1);	0.122576	0.53938	D	0.000048	D	0.83496	0.5267	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80460	-0.1373	10	0.32370	T	0.25	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	1373	Q14517	FAT1_HUMAN	I	1373	ENSP00000406229:V1373I	ENSP00000260147:V1373I	V	-	1	0	FAT1	187794239	1.000000	0.71417	0.861000	0.33841	0.598000	0.36846	5.588000	0.67517	2.805000	0.96524	0.655000	0.94253	GTT		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187557245	C	T	187557245	3	4	83	1	0	0	0	0	1	0	0	0	5689	536	19	1	9737	1	FAT1	4	187557245	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09	148727262	187557245	3597031	24	4316											
PCDHA7	56141	genome.wustl.edu	37	5	140215375	140215375	+	Silent	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr5:140215375G>A	ENST00000525929.1	+	1	1407	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P469P	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P469P(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.682																																					NSCLC(160;258 2013 5070 22440 28951)											1	Substitution - coding silent(1)	ovary(1)	5											42	48	46					5																	140215375		2202	4298	6500	140195559	SO:0001819	synonymous_variant	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1407G>A	5.37:g.140215375G>A			140195559	O75282	Silent	SNP	ENST00000525929.1	37	CCDS54918.1																																																																																				0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140215375	G	A	140215375	2	1	83	1	0	0	0	0	0	0	0	1	11529	1074	38	1		1	PCDHA7	5	140215375	Silent	SNP	G	TCGA-13-0791-01A-01W-0372-09		140215375	40699885	25	4317											
PCDHB9	57717	genome.wustl.edu	37	5	140568415	140568415	+	IGR	SNP	G	G	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr5:140568415G>C	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)			CCATCAACGCGGACAATGGCC	0.667																																																0			5											104	123	117					5																	140568415		2203	4299	6502	140548599	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.140568415G>C			140548599	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.667	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		C	140568415	G	C	140568415	1	2	83	0	1	0	0	0	0	0	0	0	11549	1116	39	3		3	PCDHB9	5	140568415	IGR	SNP	G	TCGA-13-0791-01A-01W-0372-09	353040	140568415	40346845	26	4318											
RNF145	153830	genome.wustl.edu	37	5	158603759	158603759	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr5:158603759T>C	ENST00000424310.2	-	5	861	c.502A>G	c.(502-504)Att>Gtt	p.I168V	RNF145_ENST00000518802.1_Missense_Mutation_p.I198V|RNF145_ENST00000520638.1_Missense_Mutation_p.I182V|RNF145_ENST00000274542.2_Missense_Mutation_p.I196V|RNF145_ENST00000521606.2_Missense_Mutation_p.I185V|RNF145_ENST00000519865.1_Missense_Mutation_p.I168V	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	168						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.I196V(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGATAACAATTGTCTCCAAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	5											52	52	52					5																	158603759		2203	4300	6503	158536337	SO:0001583	missense	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.502A>G	5.37:g.158603759T>C	ENSP00000409064:p.Ile168Val		158536337	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087080	0.55861	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.76709	-1.04;-1.02;-1.02;-1.03;-1.03;-1.04;-1.03	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	N	0.08118	0	0.58432	D	0.999997	P;P;P;P;P;P	0.39535	0.677;0.677;0.677;0.677;0.483;0.627	B;B;B;B;B;B	0.40199	0.322;0.322;0.322;0.322;0.322;0.216	T	0.66444	-0.5922	10	0.33940	T	0.23	-20.5003	15.8333	0.78778	0.0:0.0:0.0:1.0	.	184;185;182;198;168;196	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	V	196;168;168;184;185;198;168;182	ENSP00000274542:I196V;ENSP00000430397:I168V;ENSP00000409064:I168V;ENSP00000430753:I184V;ENSP00000445115:I185V;ENSP00000430955:I198V;ENSP00000429071:I182V	ENSP00000274542:I196V	I	-	1	0	RNF145	158536337	1.000000	0.71417	0.783000	0.31826	0.945000	0.59286	4.992000	0.63889	2.200000	0.70718	0.377000	0.23210	ATT		0.378	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		C	158603759	T	C	158603759	3	2	83	1	0	0	0	0	1	0	0	0	13450	1493	52	4	1517	4	RNF145	5	158603759	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	18035344	158603759	22311501	27	4319											
ZNF354C	30832	genome.wustl.edu	37	5	178505824	178505824	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr5:178505824G>C	ENST00000315475.6	+	5	697	c.391G>C	c.(391-393)Gag>Cag	p.E131Q		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	131					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.E131Q(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TGTGGAATTTGAGAGCGAGAT	0.378																																																1	Substitution - Missense(1)	ovary(1)	5											88	93	91					5																	178505824		2203	4300	6503	178438430	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.391G>C	5.37:g.178505824G>C	ENSP00000324064:p.Glu131Gln		178438430	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714712	0.30413	.	.	ENSG00000177932	ENST00000315475	T	0.05447	3.44	3.87	2.03	0.26663	.	.	.	.	.	T	0.05227	0.0139	L	0.38175	1.15	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.39840	-0.9594	9	0.34782	T	0.22	-4.6231	5.1769	0.15139	0.1169:0.2128:0.6703:0.0	.	131	Q86Y25	Z354C_HUMAN	Q	131	ENSP00000324064:E131Q	ENSP00000324064:E131Q	E	+	1	0	ZNF354C	178438430	0.029000	0.19370	0.003000	0.11579	0.018000	0.09664	0.547000	0.23299	0.385000	0.24970	0.591000	0.81541	GAG		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			C	178505824	G	C	178505824	3	2	83	1	0	0	0	0	1	0	0	0	17866	1291	45	3	405	3	ZNF354C	5	178505824	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	19902065	178505824	2409436	28	4320											
PPIL1	51645	genome.wustl.edu	37	6	36842541	36842541	+	Missense_Mutation	SNP	G	G	A	rs201439954		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr6:36842541G>A	ENST00000373699.5	-	1	259	c.8C>T	c.(7-9)gCa>gTa	p.A3V	C6orf89_ENST00000510325.2_Intron|C6orf89_ENST00000359359.2_Intron	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	3					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A3V(1)		lung(1)|ovary(1)	2						TGGGGGAATTGCCGCCATAGC	0.637													G|||	1	0.000199681	0	0	5008	,	,		17327	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6											27	31	30					6																	36842541		2203	4300	6503	36950519	SO:0001583	missense	51645			AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.8C>T	6.37:g.36842541G>A	ENSP00000362803:p.Ala3Val		36950519	O15001|Q5TDC9	Missense_Mutation	SNP	ENST00000373699.5	37	CCDS4826.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.45	3.627708	0.66901	.	.	ENSG00000137168	ENST00000373699	T	0.23950	1.88	5.49	5.49	0.81192	.	0.059397	0.64402	D	0.000004	T	0.08133	0.0203	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06534	-1.0821	10	0.49607	T	0.09	.	12.5857	0.56416	0.0:0.167:0.833:0.0	.	3	Q9Y3C6	PPIL1_HUMAN	V	3	ENSP00000362803:A3V	ENSP00000362803:A3V	A	-	2	0	PPIL1	36950519	1.000000	0.71417	0.979000	0.43373	0.692000	0.40212	6.147000	0.71783	2.596000	0.87737	0.557000	0.71058	GCA		0.637	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1			A	36842541	G	A	36842541	3	1	83	1	0	0	0	0	1	0	0	0	12329	1319	46	2	508	2	PPIL1	6	36842541	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09		36842541	134272526	29	4321											
ASCC3	10973	genome.wustl.edu	37	6	101165950	101165950	+	Splice_Site	SNP	C	C	G			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr6:101165950C>G	ENST00000369162.2	-	12	2424		c.e12+1		ASCC3_ENST00000522650.1_Splice_Site	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGAGTATTTACCTTATTTGCA	0.318																																																1	Unknown(1)	ovary(1)	6											47	49	48					6																	101165950		2202	4299	6501	101272671	SO:0001630	splice_region_variant	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2079+1G>C	6.37:g.101165950C>G			101272671	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Splice_Site	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747962	0.89663	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4129	0.94683	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASCC3	101272671	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.580000	0.87095	0.585000	0.79938	.		0.318	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	Intron	G	101165950	C	G	101165950	5	3	83	1	0	0	0	0	0	0	1	0	1033	521	18	3	4652	3	ASCC3	6	101165950	Splice_Site	SNP	C	TCGA-13-0791-01A-01W-0372-09	64323409	101165950	69949117	30	4322											
TAAR6	319100	genome.wustl.edu	37	6	132892221	132892221	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr6:132892221G>T	ENST00000275198.1	+	1	761	c.761G>T	c.(760-762)aGa>aTa	p.R254I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	254					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.R254I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AGGAGAGAGAGAAAAGCAGCT	0.413																																																1	Substitution - Missense(1)	ovary(1)	6											89	86	87					6																	132892221		2203	4300	6503	132933914	SO:0001583	missense	319100			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.761G>T	6.37:g.132892221G>T	ENSP00000275198:p.Arg254Ile		132933914	Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527781	0.64860	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.73575	-0.76	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.093749	0.42682	D	0.000661	D	0.85026	0.5603	M	0.86805	2.84	0.43287	D	0.99526	D	0.89917	1.0	D	0.83275	0.996	D	0.86923	0.2068	10	0.72032	D	0.01	-11.0269	13.064	0.59022	0.0769:0.0:0.9231:0.0	.	254	Q96RI8	TAAR6_HUMAN	I	254;229	ENSP00000275198:R254I	ENSP00000275198:R254I	R	+	2	0	TAAR6	132933914	0.955000	0.32602	1.000000	0.80357	0.996000	0.88848	1.861000	0.39438	2.639000	0.89480	0.650000	0.86243	AGA		0.413	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		T	132892221	G	T	132892221	3	4	83	1	0	0	0	0	1	0	0	0	15492	942	33	3	763	3	TAAR6	6	132892221	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	31726271	132892221	38222846	31	4323											
FNDC1	84624	genome.wustl.edu	37	6	159653534	159653534	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr6:159653534G>A	ENST00000297267.9	+	11	2190	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A601T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	664					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A664T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGCGCCTTCGCCCAGCCCCG	0.682																																																1	Substitution - Missense(1)	ovary(1)	6											16	21	19					6																	159653534		1990	4126	6116	159573524	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1990G>A	6.37:g.159653534G>A	ENSP00000297267:p.Ala664Thr		159573524	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.51|11.51	1.659471|1.659471	0.29515|0.29515	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.07800|.	3.16;3.91|.	4.41|4.41	-2.31|-2.31	0.06765|0.06765	.|.	0.908340|.	0.09468|.	N|.	0.798079|.	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.19935|.	0.04;0.024|.	B;B|.	0.10450|.	0.005;0.002|.	T|T	0.36286|0.36286	-0.9754|-0.9754	10|5	0.14252|.	T|.	0.57|.	-3.266|-3.266	1.1723|1.1723	0.01828|0.01828	0.1368:0.1975:0.3312:0.3346|0.1368:0.1975:0.3312:0.3346	.|.	601;664|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|H	664;601|559	ENSP00000297267:A664T;ENSP00000342460:A601T|.	ENSP00000297267:A664T|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159573524|159573524	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.319000|-0.319000	0.08039|0.08039	-0.640000|-0.640000	0.05495|0.05495	-0.136000|-0.136000	0.14681|0.14681	GCC|CGC		0.682	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159653534	G	A	159653534	3	1	83	1	0	0	0	0	1	0	0	0	5968	1087	38	1	2032	1	FNDC1	6	159653534	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	26761313	159653534	11461533	32	4324											
BBS9	27241	genome.wustl.edu	37	7	33376159	33376159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr7:33376159G>T	ENST00000242067.6	+	10	1644	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	BBS9_ENST00000350941.3_Nonsense_Mutation_p.E375*|BBS9_ENST00000354265.4_Nonsense_Mutation_p.E375*|BBS9_ENST00000396127.2_Nonsense_Mutation_p.E375*|BBS9_ENST00000355070.2_Nonsense_Mutation_p.E375*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	375					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.E375*(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCAATCTCGAGAACTAAACTA	0.378									Bardet-Biedl syndrome																																							1	Substitution - Nonsense(1)	ovary(1)	7											82	73	76					7																	33376159		2203	4300	6503	33342684	SO:0001587	stop_gained	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1123G>T	7.37:g.33376159G>T	ENSP00000242067:p.Glu375*		33342684	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Nonsense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	42	9.201737	0.99098	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	.	.	.	5.54	5.54	0.83059	.	0.108196	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-22.6325	19.4774	0.94994	0.0:0.0:1.0:0.0	.	.	.	.	X	375;375;375;375;375;375;375;253	.	ENSP00000242067:E375X	E	+	1	0	BBS9	33342684	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	9.322000	0.96357	2.604000	0.88044	0.467000	0.42956	GAA		0.378	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			T	33376159	G	T	33376159	4	4	83	1	0	0	0	0	0	1	0	0	1342	943	33	3	1157	3	BBS9	7	33376159	Nonsense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09		33376159	125762504	33	4325											
GNAT3	346562	genome.wustl.edu	37	7	80088087	80088087	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr7:80088087T>A	ENST00000398291.3	-	8	1058	c.965A>T	c.(964-966)cAc>cTc	p.H322L	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	322					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.H322L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ACAGGTCATGTGGGAATAAAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	7											85	84	84					7																	80088087		1839	4109	5948	79926023	SO:0001583	missense	346562				CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.965A>T	7.37:g.80088087T>A	ENSP00000381339:p.His322Leu		79926023	A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.778396	0.90195	.	.	ENSG00000214415	ENST00000398291	D	0.90504	-2.68	5.47	5.47	0.80525	.	0.000000	0.85682	U	0.000000	D	0.97349	0.9133	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98997	1.0810	9	.	.	.	.	15.8518	0.78937	0.0:0.0:0.0:1.0	.	322	A8MTJ3	GNAT3_HUMAN	L	322	ENSP00000381339:H322L	.	H	-	2	0	GNAT3	79926023	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.040000	0.89188	2.216000	0.71823	0.528000	0.53228	CAC		0.348	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		A	80088087	T	A	80088087	3	1	83	1	0	0	0	0	1	0	0	0	6513	1696	59	5	101	5	GNAT3	7	80088087	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	46711928	80088087	79050576	34	4326											
SLC13A1	6561	genome.wustl.edu	37	7	122808565	122808567	+	In_Frame_Del	DEL	CTG	CTG	AT			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	CTG	CTG	CTG	AT	CTG	CTG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr7:122808565_122808567delCTG	ENST00000194130.2	-	5	641_643	c.602_604delCAG	c.(601-606)ccagtt>ctt	p.201_202PV>L	SLC13A1_ENST00000539873.1_In_Frame_Del_p.137_138PV>L	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	201					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TACCCTGGAACTGGTTTTGTTTT	0.261																																																0			7																																								122595803	SO:0001651	inframe_deletion	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.602_604delCAG	7.37:g.122808565_122808567delCTG	ENSP00000194130:p.Pro201_Val202delinsLeu		122595801	Q9H5Z0	Frame_Shift_Del	DEL	ENST00000194130.2	37	CCDS5786.1																																																																																				0.261	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		AT	122808567	CTG	AT	122808565	7	5	83	1	0	1	0	1	0	0	0	0	14394	565	20	0	1227	0	SLC13A1	7	122808565	In_Frame_Del	DEL	CTG	TCGA-13-0791-01A-01W-0372-09	42720478	122808565	36330098	35	4327											
CHRM2	1129	genome.wustl.edu	37	7	136699767	136699767	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr7:136699767G>A	ENST00000445907.2	+	3	683	c.155G>A	c.(154-156)cGc>cAc	p.R52H	hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.R52H|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.R52H|CHRM2_ENST00000402486.3_Missense_Mutation_p.R52H|CHRM2_ENST00000401861.1_Missense_Mutation_p.R52H|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.R52H|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	52					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R52H(3)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAAGTCAACCGCCACCTCCAG	0.448																																																3	Substitution - Missense(3)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	7											203	171	181					7																	136699767		2203	4300	6503	136350307	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.155G>A	7.37:g.136699767G>A	ENSP00000399745:p.Arg52His		136350307	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349237	0.82132	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77544	-0.2548	10	0.72032	D	0.01	-14.4422	19.0529	0.93053	0.0:0.0:1.0:0.0	.	52	P08172	ACM2_HUMAN	H	52	ENSP00000399745:R52H;ENSP00000415386:R52H;ENSP00000319984:R52H;ENSP00000380733:R52H;ENSP00000384937:R52H;ENSP00000384401:R52H	ENSP00000319984:R52H	R	+	2	0	CHRM2	136350307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.766000	0.98957	2.502000	0.84385	0.585000	0.79938	CGC		0.448	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			A	136699767	G	A	136699767	3	1	83	1	0	0	0	0	1	0	0	0	3377	1087	38	1	157	1	CHRM2	7	136699767	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	13891202	136699767	22438896	36	4328											
FLJ43860	389690	genome.wustl.edu	37	8	142487536	142487536	+	RNA	SNP	C	C	T	rs199975856		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr8:142487536C>T	ENST00000430863.1	-	0	1492					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.R471H(1)									GGCCTGCTGGCGACTCCGCGT	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		17607	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	8						C	HIS/ARG	1,4369		0,1,2184	45	61	56		1412	3.5	0.9	8		56	1,8569		0,1,4284	yes	missense	FLJ43860	NM_207414.2	29	0,2,6468	TT,TC,CC		0.0117,0.0229,0.0155	benign	471/1319	142487536	2,12938	2185	4285	6470	142556718			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142487536C>T			142556718		Missense_Mutation	SNP	ENST00000430863.1	37																																																																																					0.652	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		T	142487536	C	T	142487536	1	4	83	0	1	0	0	0	0	0	0	0	5930	768	27	1		1	FLJ43860	8	142487536	RNA	SNP	C	TCGA-13-0791-01A-01W-0372-09		142487536	3876486	37	4329											
EEF1D	1936	genome.wustl.edu	37	8	144668985	144668985	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr8:144668985T>A	ENST00000529272.1	-	2	431	c.31A>T	c.(31-33)Atc>Ttc	p.I11F	EEF1D_ENST00000317198.6_Missense_Mutation_p.I11F|EEF1D_ENST00000524624.1_Missense_Mutation_p.I11F|EEF1D_ENST00000423316.2_Missense_Mutation_p.I377F|EEF1D_ENST00000442189.2_Missense_Mutation_p.I377F|EEF1D_ENST00000419152.2_Missense_Mutation_p.I11F|EEF1D_ENST00000532741.1_Missense_Mutation_p.I427F|EEF1D_ENST00000528610.1_Missense_Mutation_p.I11F|EEF1D_ENST00000531621.1_Missense_Mutation_p.I11F|EEF1D_ENST00000532400.1_Missense_Mutation_p.I11F|EEF1D_ENST00000395119.3_Missense_Mutation_p.I11F|EEF1D_ENST00000526838.1_Missense_Mutation_p.I11F			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	11					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.I377F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCGAACCAGATCTTCTCATGT	0.552																																																1	Substitution - Missense(1)	ovary(1)	8											130	129	129					8																	144668985		2203	4300	6503	144740128	SO:0001583	missense	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.31A>T	8.37:g.144668985T>A	ENSP00000434872:p.Ile11Phe		144740128	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771317	0.69992	.	.	ENSG00000104529	ENST00000419152;ENST00000532400;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749;ENST00000526340;ENST00000525223;ENST00000532543;ENST00000531931	.	.	.	4.81	2.41	0.29592	.	0.218494	0.46442	D	0.000296	T	0.66587	0.2804	L	0.56396	1.775	0.44110	D	0.996889	B;D;D;P;D;D	0.89917	0.023;0.999;1.0;0.822;1.0;1.0	B;D;D;B;D;D	0.83275	0.017;0.939;0.996;0.384;0.99;0.973	T	0.61227	-0.7105	9	0.37606	T	0.19	.	7.2874	0.26346	0.0:0.2533:0.0:0.7467	.	11;377;329;11;427;377	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	F	11;11;427;11;377;11;11;11;377;329;11;377;11;11;11;11;11;11;11;11;11;11;27;11;11;11;11	.	ENSP00000317399:I11F	I	-	1	0	EEF1D	144740128	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.088000	0.30877	0.292000	0.22492	0.459000	0.35465	ATC		0.552	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		A	144668985	T	A	144668985	3	1	83	1	0	0	0	0	1	0	0	0	4926	1435	50	5	842	5	EEF1D	8	144668985	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	2181449	144668985	1695037	38	4330											
CHMP5	51510	genome.wustl.edu	37	9	33267862	33267862	+	Silent	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr9:33267862G>A	ENST00000223500.8	+	3	323	c.186G>A	c.(184-186)aaG>aaA	p.K62K	CHMP5_ENST00000419016.2_Silent_p.K62K	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	62					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K62K(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			ATATGGTCAAGCAGAAAGCCT	0.358																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	9											96	93	94					9																	33267862		2203	4300	6503	33257862	SO:0001819	synonymous_variant	51510			AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"Charged multivesicular body proteins"	26942	protein-coding gene	gene with protein product		610900	"chromosome 9 open reading frame 83", "chromatin modifying protein 5"	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.186G>A	9.37:g.33267862G>A			33257862	B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Silent	SNP	ENST00000223500.8	37	CCDS6537.1																																																																																				0.358	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		A	33267862	G	A	33267862	2	1	83	1	0	0	0	0	0	0	0	1	3359	962	34	2		2	CHMP5	9	33267862	Silent	SNP	G	TCGA-13-0791-01A-01W-0372-09		33267862	107945569	39	4331											
PKD2L1	9033	genome.wustl.edu	37	10	102056751	102056751	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr10:102056751G>T	ENST00000318222.3	-	6	1553	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	PKD2L1_ENST00000338519.3_Missense_Mutation_p.L316M|PKD2L1_ENST00000353274.3_Missense_Mutation_p.L391M	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	391					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.L391M(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ATGACCACCAGGTCCAGTATG	0.522																																																1	Substitution - Missense(1)	ovary(1)	10											103	91	95					10																	102056751		2203	4300	6503	102046741	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1171C>A	10.37:g.102056751G>T	ENSP00000325296:p.Leu391Met		102046741	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	9.197	1.027544	0.19512	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	D;D;D	0.98028	-4.67;-4.67;-4.67	4.95	-0.414	0.12359	Polycystin cation channel, PKD1/PKD2 (1);	0.126603	0.53938	D	0.000052	D	0.92397	0.7587	L	0.35854	1.095	0.33422	D	0.57994	P;B	0.40000	0.698;0.218	B;B	0.36766	0.232;0.196	D	0.88151	0.2851	10	0.52906	T	0.07	-10.7673	1.5337	0.02541	0.2204:0.1687:0.4149:0.196	.	344;391	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	M	316;391;391;389	ENSP00000345068:L316M;ENSP00000266049:L391M;ENSP00000325296:L391M	ENSP00000325296:L391M	L	-	1	2	PKD2L1	102046741	0.972000	0.33761	0.988000	0.46212	0.918000	0.54935	0.405000	0.21015	-0.091000	0.12440	-2.326000	0.00250	CTG		0.522	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		T	102056751	G	T	102056751	3	4	83	1	0	0	0	0	1	0	0	0	11967	991	35	3	1290	3	PKD2L1	10	102056751	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09		102056751	33477996	40	4332											
OVCH1	341350	genome.wustl.edu	37	12	29648367	29648367	+	Missense_Mutation	SNP	A	A	G	rs111993736	byFrequency	TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr12:29648367A>G	ENST00000318184.5	-	4	304	c.305T>C	c.(304-306)gTg>gCg	p.V102A		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	102	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V102A(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCCAGAAGTCACAGTTATATT	0.363													A|||	24	0.00479233	0.0174	0.0014	5008	,	,		17837	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12						A	ALA/VAL	47,3599		0,47,1776	77	71	73		305	2.9	0.5	12	dbSNP_132	73	0,8170		0,0,4085	yes	missense	OVCH1	NM_183378.2	64	0,47,5861	GG,GA,AA		0.0,1.2891,0.3978	possibly-damaging	102/1135	29648367	47,11769	1823	4085	5908	29539634	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.305T>C	12.37:g.29648367A>G	ENSP00000326708:p.Val102Ala		29539634		Missense_Mutation	SNP	ENST00000318184.5	37		9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	A	9.768	1.172009	0.21704	0.012891	0.0	ENSG00000187950	ENST00000318184	D	0.96136	-3.92	2.89	2.89	0.33648	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84938	0.5583	L	0.41124	1.26	0.09310	N	1	P	0.40731	0.728	B	0.41619	0.361	T	0.79487	-0.1783	9	0.20519	T	0.43	.	4.74	0.13008	0.8579:0.0:0.1421:0.0	.	102	Q7RTY7	OVCH1_HUMAN	A	102	ENSP00000326708:V102A	ENSP00000326708:V102A	V	-	2	0	OVCH1	29539634	0.972000	0.33761	0.481000	0.27354	0.053000	0.15095	3.778000	0.55371	1.569000	0.49696	0.533000	0.62120	GTG		0.363	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		G	29648367	A	G	29648367	3	3	83	1	0	0	0	0	1	0	0	0	11323	159	6	4	3199	4	OVCH1	12	29648367	Missense_Mutation	SNP	A	TCGA-13-0791-01A-01W-0372-09		29648367	104203528	41	4333											
CEP290	80184	genome.wustl.edu	37	12	88477655	88477655	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr12:88477655C>A	ENST00000552810.1	-	36	5124	c.4781G>T	c.(4780-4782)aGt>aTt	p.S1594I	CEP290_ENST00000309041.7_Missense_Mutation_p.S1596I|CEP290_ENST00000547691.2_Missense_Mutation_p.S654I|CEP290_ENST00000397838.3_Missense_Mutation_p.S654I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1594					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.S1596I(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATTTAGTGAACTATCAGCCTG	0.323																																																1	Substitution - Missense(1)	ovary(1)	12											128	116	120					12																	88477655		1802	4073	5875	87001786	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4781G>T	12.37:g.88477655C>A	ENSP00000448012:p.Ser1594Ile		87001786	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502635	0.44455	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.43	1.52	0.23074	.	0.308243	0.41194	D	0.000928	D	0.82462	0.5042	N	0.22421	0.69	0.24669	N	0.993428	B	0.28605	0.217	B	0.28991	0.097	T	0.71009	-0.4716	10	0.37606	T	0.19	.	4.5313	0.12006	0.0:0.3893:0.1618:0.4489	.	1594	O15078	CE290_HUMAN	I	654;1594;1596;654	ENSP00000446905:S654I;ENSP00000448012:S1594I;ENSP00000308021:S1596I;ENSP00000380938:S654I	ENSP00000308021:S1596I	S	-	2	0	CEP290	87001786	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.206000	0.17375	0.350000	0.24002	0.650000	0.86243	AGT		0.323	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		A	88477655	C	A	88477655	3	1	83	1	0	0	0	0	1	0	0	0	3253	565	20	3	2734	3	CEP290	12	88477655	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09	58829288	88477655	45374240	42	4334											
ANO4	121601	genome.wustl.edu	37	12	101490421	101490421	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr12:101490421G>A	ENST00000392977.3	+	19	2056	c.1846G>A	c.(1846-1848)Gga>Aga	p.G616R	ANO4_ENST00000392979.3_Missense_Mutation_p.G581R|ANO4_ENST00000299222.9_Missense_Mutation_p.G136R|ANO4_ENST00000550015.1_Missense_Mutation_p.G136R			Q32M45	ANO4_HUMAN	anoctamin 4	616					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G581R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATTCTTCCTCGGAAGGTAAGA	0.498										HNSCC(74;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											94	85	88					12																	101490421		2203	4300	6503	100014552	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1846G>A	12.37:g.101490421G>A	ENSP00000376703:p.Gly616Arg		100014552	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	33	5.199760	0.94997	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	T	0.79782	0.4505	M	0.70903	2.155	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.76575	0.941;0.988;0.98	T	0.80714	-0.1259	10	0.87932	D	0	.	19.6088	0.95594	0.0:0.0:1.0:0.0	.	136;616;581	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	R	581;136;616;136	ENSP00000376705:G581R;ENSP00000299222:G136R;ENSP00000376703:G616R;ENSP00000450192:G136R	ENSP00000299222:G136R	G	+	1	0	ANO4	100014552	1.000000	0.71417	0.991000	0.47740	0.933000	0.57130	9.837000	0.99465	2.734000	0.93682	0.563000	0.77884	GGA		0.498	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		A	101490421	G	A	101490421	3	1	83	1	0	0	0	0	1	0	0	0	699	1117	39	1	1807	1	ANO4	12	101490421	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	13012766	101490421	32361474	43	4335											
ANAPC5	51433	genome.wustl.edu	37	12	121758249	121758250	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	GC	GC	GC	AT	GC	GC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr12:121758249_121758250GC>AT	ENST00000261819.3	-	12	1574_1575	c.1453_1454GC>AT	c.(1453-1455)GCa>ATa	p.A485I	ANAPC5_ENST00000541887.1_Missense_Mutation_p.A472I|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A151I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A373I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A373I|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCAGAAGCTGCAGCAAAACAG	0.436																																																0			12																																								120242633	SO:0001583	missense	51433			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1453_1454delinsAT	12.37:g.121758249_121758250delinsAT	ENSP00000261819:p.Ala485Ile		120242632	E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	DNP	ENST00000261819.3	37	CCDS9220.1																																																																																				0.436	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			AT	121758250	GC	AT	121758249	3	1	83	1	0	0	0	0	1	0	0	0	605	1319	46	2	837	2	ANAPC5	12	121758249	Missense_Mutation	DNP	GC	TCGA-13-0791-01A-01W-0372-09	20267828	121758249	12093646	44	4336											
PITPNM2	57605	genome.wustl.edu	37	12	123471965	123471965	+	Silent	SNP	C	C	T	rs151113446		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr12:123471965C>T	ENST00000542749.1	-	21	3339	c.3276G>A	c.(3274-3276)acG>acA	p.T1092T	PITPNM2_ENST00000320201.4_Silent_p.T1092T|PITPNM2_ENST00000392428.1_Silent_p.T813T|PITPNM2_ENST00000280562.5_Silent_p.T1086T			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1092					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.T1092T(2)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTCGGCAAACGTGTGGTCTC	0.622																																																2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	12						C		1,4405	2.1+/-5.4	0,1,2202	95	85	88		3276	-6	0.9	12	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	PITPNM2	NM_020845.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1092/1350	123471965	1,13005	2203	4300	6503	122037918	SO:0001819	synonymous_variant	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3276G>A	12.37:g.123471965C>T			122037918	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																				0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		T	123471965	C	T	123471965	2	4	83	1	0	0	0	0	0	0	0	1	11951	523	19	1		1	PITPNM2	12	123471965	Silent	SNP	C	TCGA-13-0791-01A-01W-0372-09	1713716	123471965	10379930	45	4337											
TMEM132D	121256	genome.wustl.edu	37	12	130184667	130184667	+	Missense_Mutation	SNP	G	G	A	rs146143180		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr12:130184667G>A	ENST00000422113.2	-	2	982	c.656C>T	c.(655-657)cCg>cTg	p.P219L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	219					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P219L(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTCCCCTCCGGCTGGTCCAC	0.682																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	12						G	LEU/PRO	0,4406		0,0,2203	38	40	39		656	2.5	0	12	dbSNP_134	39	3,8597	3.0+/-9.4	0,3,4297	no	missense	TMEM132D	NM_133448.2	98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	219/1100	130184667	3,13003	2203	4300	6503	128750620	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.656C>T	12.37:g.130184667G>A	ENSP00000408581:p.Pro219Leu		128750620	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633920	0.03584	0.0	3.49E-4	ENSG00000151952	ENST00000422113	T	0.10860	2.83	5.35	2.46	0.29980	.	0.521615	0.18832	N	0.129936	T	0.08714	0.0216	L	0.40543	1.245	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.34576	-0.9823	9	.	.	.	-7.5313	9.0373	0.36296	0.069:0.0:0.6664:0.2646	.	219	Q14C87	T132D_HUMAN	L	219	ENSP00000408581:P219L	.	P	-	2	0	TMEM132D	128750620	0.002000	0.14202	0.000000	0.03702	0.022000	0.10575	1.224000	0.32539	0.212000	0.20703	-0.175000	0.13238	CCG		0.682	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	130184667	G	A	130184667	3	1	83	1	0	0	0	0	1	0	0	0	16047	1116	39	1	2675	1	TMEM132D	12	130184667	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	6712702	130184667	3667228	46	4338											
COL4A2	1284	genome.wustl.edu	37	13	111082244	111082244	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr13:111082244C>T	ENST00000360467.5	+	8	796	c.490C>T	c.(490-492)Cca>Tca	p.P164S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	164					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.P164S(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCCCCAAGGACCAAAAGGGCA	0.458																																																1	Substitution - Missense(1)	ovary(1)	13											68	68	68					13																	111082244		1869	4093	5962	109880245	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.490C>T	13.37:g.111082244C>T	ENSP00000353654:p.Pro164Ser		109880245	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597092	0.28445	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96587	-4.06	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000038	D	0.96405	0.8827	L	0.41632	1.29	0.39551	D	0.968977	D	0.89917	1.0	D	0.75484	0.986	D	0.94277	0.7516	10	0.08381	T	0.77	.	17.1996	0.86902	0.0:1.0:0.0:0.0	.	164	P08572	CO4A2_HUMAN	S	164	ENSP00000353654:P164S	ENSP00000257309:P164S	P	+	1	0	COL4A2	109880245	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.947000	0.63583	2.479000	0.83701	0.555000	0.69702	CCA		0.458	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		T	111082244	C	T	111082244	3	4	83	1	0	0	0	0	1	0	0	0	3690	507	18	2	516	2	COL4A2	13	111082244	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09		111082244	4087634	47	4339											
OCA2	4948	genome.wustl.edu	37	15	28000554	28000554	+	Missense_Mutation	SNP	C	C	A	rs200396611	byFrequency	TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr15:28000554C>A	ENST00000354638.3	-	24	2652	c.2497G>T	c.(2497-2499)Gtg>Ttg	p.V833L	OCA2_ENST00000353809.5_Missense_Mutation_p.V809L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	833			Missing (in OCA2). {ECO:0000269|PubMed:10987646}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.V833L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCCACCACCACATGAGCCACA	0.438									Oculocutaneous Albinism																																							1	Substitution - Missense(1)	ovary(1)	15											167	142	150					15																	28000554		2203	4300	6503	25674149	SO:0001583	missense	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2497G>T	15.37:g.28000554C>A	ENSP00000346659:p.Val833Leu		25674149	Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	6.721	0.501678	0.12822	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	D;D	0.90563	-2.69;-2.54	5.77	3.81	0.43845	.	0.301301	0.30704	N	0.009056	T	0.80341	0.4605	N	0.12920	0.275	0.23620	N	0.997277	B;B	0.31274	0.317;0.05	B;B	0.30943	0.089;0.122	T	0.68546	-0.5380	10	0.32370	T	0.25	-7.9587	8.6917	0.34271	0.0:0.8144:0.0:0.1856	.	809;833	Q04671-2;Q04671	.;P_HUMAN	L	833;809	ENSP00000346659:V833L;ENSP00000261276:V809L	ENSP00000261276:V809L	V	-	1	0	OCA2	25674149	0.883000	0.30277	0.037000	0.18230	0.115000	0.19883	1.301000	0.33447	0.718000	0.32166	0.563000	0.77884	GTG		0.438	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		A	28000554	C	A	28000554	3	1	83	1	0	0	0	0	1	0	0	0	10815	478	17	3	23	3	OCA2	15	28000554	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09		28000554	74530838	48	4340											
SLC12A1	6557	genome.wustl.edu	37	15	48521515	48521515	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr15:48521515A>T	ENST00000558405.1	+	5	868	c.854A>T	c.(853-855)gAt>gTt	p.D285V	SLC12A1_ENST00000330289.6_Missense_Mutation_p.D285V|SLC12A1_ENST00000396577.3_Missense_Mutation_p.D285V|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D285V|SLC12A1_ENST00000559723.1_3'UTR			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	285					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.D285V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACTGTAGTAGATCTTCTTAAG	0.413																																																1	Substitution - Missense(1)	ovary(1)	15											106	88	94					15																	48521515		2198	4297	6495	46308807	SO:0001583	missense	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.854A>T	15.37:g.48521515A>T	ENSP00000453409:p.Asp285Val		46308807	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	A	16.37	3.105434	0.56291	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.99042	-5.36;-5.36;-5.36	5.81	4.69	0.59074	Amino acid permease domain (1);	0.150607	0.64402	D	0.000015	D	0.98896	0.9626	M	0.70595	2.14	0.80722	D	1	P;D;P	0.57899	0.741;0.981;0.933	B;D;P	0.65233	0.405;0.933;0.756	D	0.98979	1.0804	10	0.66056	D	0.02	.	11.2818	0.49199	0.9294:0.0:0.0706:0.0	.	285;285;285	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	V	98;285;285;285	ENSP00000370381:D285V;ENSP00000379822:D285V;ENSP00000331550:D285V	ENSP00000331550:D285V	D	+	2	0	SLC12A1	46308807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.217000	0.71921	0.533000	0.62120	GAT		0.413	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			T	48521515	A	T	48521515	3	4	83	1	0	0	0	0	1	0	0	0	14385	333	12	5	972	5	SLC12A1	15	48521515	Missense_Mutation	SNP	A	TCGA-13-0791-01A-01W-0372-09	20520961	48521515	54009877	49	4341											
CYP11A1	1583	genome.wustl.edu	37	15	74636161	74636161	+	Silent	SNP	A	A	G			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr15:74636161A>G	ENST00000268053.6	-	4	952	c.798T>C	c.(796-798)caT>caC	p.H266H	CYP11A1_ENST00000358632.4_Silent_p.H108H|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Silent_p.H108H	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	266					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.H266H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	ATGCAGCCACATGGTCCTTCC	0.582																																					Esophageal Squamous(87;818 1337 4093 9268 37314)											1	Substitution - coding silent(1)	ovary(1)	15											179	169	172					15																	74636161		2197	4296	6493	72423214	SO:0001819	synonymous_variant	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.798T>C	15.37:g.74636161A>G			72423214	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	CCDS32291.1																																																																																				0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			G	74636161	A	G	74636161	2	3	83	1	0	0	0	0	0	0	0	1	4144	214	8	4		4	CYP11A1	15	74636161	Silent	SNP	A	TCGA-13-0791-01A-01W-0372-09	26114646	74636161	27895231	50	4342											
SETD1A	9739	genome.wustl.edu	37	16	30976945	30976945	+	Silent	SNP	C	C	T	rs146323096	byFrequency	TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr16:30976945C>T	ENST00000262519.8	+	8	2429	c.1743C>T	c.(1741-1743)gaC>gaT	p.D581D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	581	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D581D(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTTCTGGAGACGACATGGAGA	0.667													C|||	2	0.000399361	0	0	5008	,	,		11093	0.002		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	16						C		2,4386		0,2,2192	23	27	26		1743	2.4	1	16	dbSNP_134	26	0,8586		0,0,4293	no	coding-synonymous	SETD1A	NM_014712.1		0,2,6485	TT,TC,CC		0.0,0.0456,0.0154		581/1708	30976945	2,12972	2194	4293	6487	30884446	SO:0001819	synonymous_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1743C>T	16.37:g.30976945C>T			30884446	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																				0.667	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		T	30976945	C	T	30976945	2	4	83	1	0	0	0	0	0	0	0	1	14133	535	19	1		1	SETD1A	16	30976945	Silent	SNP	C	TCGA-13-0791-01A-01W-0372-09		30976945	59377808	51	4343											
KIAA0182	23199	genome.wustl.edu	37	16	85704652	85704652	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr16:85704652C>T	ENST00000253458.7	+	15	3643	c.3467C>T	c.(3466-3468)gCc>gTc	p.A1156V	GSE1_ENST00000393243.1_Missense_Mutation_p.A1083V|GSE1_ENST00000405402.2_Missense_Mutation_p.A1052V	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1156								p.A1156V(1)									CGACTGGAGGCCCGGCACTAC	0.537																																																1	Substitution - Missense(1)	ovary(1)	16											69	72	71					16																	85704652		2198	4300	6498	84262153	SO:0001583	missense	23199			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3467C>T	16.37:g.85704652C>T	ENSP00000253458:p.Ala1156Val		84262153	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.768082|5.768082	0.96914|0.96914	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243|ENST00000412692;ENST00000438180	T;T;T|.	0.38401|.	1.14;1.14;1.14|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.107337|.	0.64402|.	D|.	0.000005|.	T|T	0.73171|0.73171	0.3553|0.3553	L|L	0.55481|0.55481	1.735|1.735	0.54753|0.54753	D|D	0.999988|0.999988	D;D;D;D|.	0.71674|.	0.967;0.998;0.998;0.997|.	P;D;D;D|.	0.69142|.	0.554;0.962;0.962;0.917|.	T|T	0.67436|0.67436	-0.5671|-0.5671	10|5	0.59425|.	D|.	0.04|.	-28.9046|-28.9046	20.5596|20.5596	0.99324|0.99324	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	919;1052;1083;1156|.	Q59GZ0;Q14687-2;Q14687-3;Q14687|.	.;.;.;GSE1_HUMAN|.	V|S	1052;1156;1083|925;358	ENSP00000384839:A1052V;ENSP00000253458:A1156V;ENSP00000376934:A1083V|.	ENSP00000253458:A1156V|.	A|P	+|+	2|1	0|0	KIAA0182|KIAA0182	84262153|84262153	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.985000|0.985000	0.73830|0.73830	7.363000|7.363000	0.79516|0.79516	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GCC|CCC		0.537	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		T	85704652	C	T	85704652	3	4	83	1	0	0	0	0	1	0	0	0	8159	739	26	2	3525	2	KIAA0182	16	85704652	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09	54727707	85704652	4650101	52	4344											
RNMTL1	51031	genome.wustl.edu	37	17	685836	685836	+	5'Flank	SNP	A	A	G	rs368602188		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr17:685836A>G	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Missense_Mutation_p.K73R|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.K73R(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAACGAGAGAAACAACCGCTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	17						A	ARG/LYS	0,4406		0,0,2203	33	32	32		218	0.7	0	17		32	1,8589	1.2+/-3.3	0,1,4294	no	missense	RNMTL1	NM_018146.2	26	0,1,6497	GG,GA,AA		0.0116,0.0,0.0077	benign	73/421	685836	1,12995	2203	4295	6498	632586	SO:0001631	upstream_gene_variant	55178			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685836A>G	Exception_encountered		632586	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.23|10.23	1.293705|1.293705	0.23564|0.23564	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167699|ENSG00000171861	ENST00000397393|ENST00000304478	.|T	.|0.18338	.|2.22	4.63|4.63	0.665|0.665	0.17896|0.17896	.|.	.|0.743101	.|0.12683	.|N	.|0.447801	T|T	0.09335|0.09335	0.0230|0.0230	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.18461	.|0.028	.|B	.|0.14023	.|0.01	T|T	0.38693|0.38693	-0.9649|-0.9649	6|10	0.87932|0.18710	D|T	0|0.47	-2.4228|-2.4228	6.3097|6.3097	0.21159|0.21159	0.3832:0.5207:0.0961:0.0|0.3832:0.5207:0.0961:0.0	.|.	.|73	.|Q9HC36	.|RMTL1_HUMAN	S|R	94|73	.|ENSP00000306080:K73R	ENSP00000380548:F94S|ENSP00000306080:K73R	F|K	-|+	2|2	0|0	GLOD4|RNMTL1	632586|632586	0.000000|0.000000	0.05858|0.05858	0.029000|0.029000	0.17559|0.17559	0.003000|0.003000	0.03518|0.03518	0.137000|0.137000	0.15995|0.15995	0.300000|0.300000	0.22699|0.22699	-0.460000|-0.460000	0.05396|0.05396	TTT|AAA		0.622	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		G	685836	A	G	685836	1	3	83	0	1	0	0	0	0	0	0	0	13510	14	1	4		4	RNMTL1	17	685836	5'Flank	SNP	A	TCGA-13-0791-01A-01W-0372-09		685836	80509374	53	4345											
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000420246.2_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L	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	58	61					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>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu		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	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	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	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	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;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	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		A	7577120	C	A	7577120	3	1	83	1	0	0	0	0	1	0	0	0	16381	536	19	3	468	3	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09	6891284	7577120	73618090	54	4346											
MYH4	4622	genome.wustl.edu	37	17	10350377	10350377	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr17:10350377G>C	ENST00000255381.2	-	35	5232	c.5122C>G	c.(5122-5124)Caa>Gaa	p.Q1708E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1708					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.Q1708E(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGAAGCTCTTGCTCTGCCATT	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											156	125	136					17																	10350377		2203	4300	6503	10291102	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5122C>G	17.37:g.10350377G>C	ENSP00000255381:p.Gln1708Glu		10291102		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811788	0.90707	.	.	ENSG00000141048	ENST00000255381	T	0.77489	-1.1	5.29	5.29	0.74685	Myosin tail (1);	0.000000	0.36002	U	0.002841	D	0.82774	0.5110	M	0.81179	2.53	0.58432	D	0.999998	P	0.37612	0.602	B	0.42625	0.393	T	0.82707	-0.0324	10	0.40728	T	0.16	.	19.2859	0.94069	0.0:0.0:1.0:0.0	.	1708	Q9Y623	MYH4_HUMAN	E	1708	ENSP00000255381:Q1708E	ENSP00000255381:Q1708E	Q	-	1	0	MYH4	10291102	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.796000	0.99103	2.646000	0.89796	0.563000	0.77884	CAA		0.498	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		C	10350377	G	C	10350377	3	2	83	1	0	0	0	0	1	0	0	0	10037	1328	46	3	721	3	MYH4	17	10350377	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	2773257	10350377	70844833	55	4347											
NUFIP2	57532	genome.wustl.edu	37	17	27613766	27613766	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr17:27613766T>C	ENST00000225388.4	-	2	1304	c.1246A>G	c.(1246-1248)Aat>Gat	p.N416D	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	416						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N416D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ACAGGCCCATTAGAAAAGTTG	0.473																																																1	Substitution - Missense(1)	ovary(1)	17											75	77	76					17																	27613766		2203	4300	6503	24637892	SO:0001583	missense	57532			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1246A>G	17.37:g.27613766T>C	ENSP00000225388:p.Asn416Asp		24637892	A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.031605	0.54790	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	5.07	0.68467	.	0.061993	0.64402	D	0.000004	T	0.53818	0.1820	L	0.36672	1.1	0.80722	D	1	P	0.40534	0.72	B	0.43728	0.429	T	0.57004	-0.7885	9	0.87932	D	0	-9.5139	13.5131	0.61524	0.0:0.0:0.1302:0.8698	.	416	Q7Z417	NUFP2_HUMAN	D	416	.	ENSP00000225388:N416D	N	-	1	0	NUFIP2	24637892	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.698000	0.84413	1.104000	0.41587	0.533000	0.62120	AAT		0.473	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		C	27613766	T	C	27613766	3	2	83	1	0	0	0	0	1	0	0	0	10749	1754	61	4	853	4	NUFIP2	17	27613766	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	17263389	27613766	53581444	56	4348											
CDK12	51755	genome.wustl.edu	37	17	37618687	37618688	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr17:37618687_37618688delCT	ENST00000447079.4	+	1	396_397	c.363_364delCT	c.(361-366)gacttafs	p.L123fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.L123fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	123					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L122fs*4(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTTCCCGGGACTTACTAAAAGC	0.515			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Deletion - Frameshift(1)	ovary(1)	17																																								34872214	SO:0001589	frameshift_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.363_364delCT	17.37:g.37618687_37618688delCT	ENSP00000398880:p.Leu123fs		34872213	A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	CCDS11337.1																																																																																				0.515	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		-	37618688	CT	-	37618687	7	5	83	1	0	1	0	1	0	0	0	0	3128	564	20	0	365	0	CDK12	17	37618687	Frame_Shift_Del	DEL	CT	TCGA-13-0791-01A-01W-0372-09	10004921	37618687	43576523	57	4349											
TOP2A	7153	genome.wustl.edu	37	17	38569194	38569195	+	Frame_Shift_Ins	INS	-	-	CCAG			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr17:38569194_38569195insCCAG	ENST00000423485.1	-	7	763_764	c.605_606insCTGG	c.(604-606)ggtfs	p.-202fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa						apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GTTCCATCTCACCAGCTCTTCC	0.351																																																0			17																																								35822721	SO:0001589	frameshift_variant	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.602_605dupCTGG	17.37:g.38569195_38569198dupCCAG	ENSP00000411532:p.Gly202fs		35822720	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Frame_Shift_Ins	INS	ENST00000423485.1	37	CCDS45672.1																																																																																				0.351	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			CCAG	38569195	-	CCAG	38569194	7	5	83	1	0	1	1	0	0	0	0	0	16365	146	6	0	4105	0	TOP2A	17	38569194	Frame_Shift_Ins	INS	-	TCGA-13-0791-01A-01W-0372-09	950507	38569194	42626016	58	4350											
ITGA2B	3674	genome.wustl.edu	37	17	42457993	42457993	+	Missense_Mutation	SNP	C	C	T	rs375195998		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr17:42457993C>T	ENST00000262407.5	-	14	1445	c.1414G>A	c.(1414-1416)Ggg>Agg	p.G472R	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G472R	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	472					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.G472R(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TGGTTGGCCCCGTAAGCTCCC	0.597																																																1	Substitution - Missense(1)	ovary(1)	17						C	ARG/GLY	0,4406		0,0,2203	117	108	111		1414	5	0.3	17		111	2,8598	2.2+/-6.3	0,2,4298	no	missense	ITGA2B	NM_000419.3	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	472/1040	42457993	2,13004	2203	4300	6503	39813519	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1414G>A	17.37:g.42457993C>T	ENSP00000262407:p.Gly472Arg		39813519	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989917	0.54041	0.0	2.33E-4	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.74315	-0.83;-0.83	5.02	5.02	0.67125	.	0.270310	0.20133	N	0.098542	D	0.85831	0.5788	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	D	0.88186	0.2874	10	0.87932	D	0	.	11.3725	0.49708	0.0:0.9133:0.0:0.0867	.	472	P08514	ITA2B_HUMAN	R	472	ENSP00000262407:G472R;ENSP00000340536:G472R	ENSP00000262407:G472R	G	-	1	0	ITGA2B	39813519	0.992000	0.36948	0.258000	0.24420	0.099000	0.18886	4.720000	0.61944	2.613000	0.88420	0.655000	0.94253	GGG		0.597	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			T	42457993	C	T	42457993	3	4	83	1	0	0	0	0	1	0	0	0	7876	652	23	1	1773	1	ITGA2B	17	42457993	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09	3888799	42457993	38737217	59	4351											
DCC	1630	genome.wustl.edu	37	18	50683842	50683842	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr18:50683842C>G	ENST00000442544.2	+	8	1994	c.1378C>G	c.(1378-1380)Caa>Gaa	p.Q460E	DCC_ENST00000412726.1_Missense_Mutation_p.Q308E|DCC_ENST00000581580.1_Missense_Mutation_p.Q115E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	460	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.Q460E(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGGAACATTCAAACTTTCAC	0.488																																																1	Substitution - Missense(1)	ovary(1)	18											96	87	90					18																	50683842		2203	4300	6503	48937840	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1378C>G	18.37:g.50683842C>G	ENSP00000389140:p.Gln460Glu		48937840		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660274	0.47572	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56275	0.47;0.47	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.59609	0.2206	L	0.52206	1.635	0.46096	D	0.998863	B;B;B	0.29270	0.175;0.175;0.24	B;B;B	0.41691	0.28;0.28;0.364	T	0.60816	-0.7188	10	0.72032	D	0.01	.	18.3678	0.90397	0.0:1.0:0.0:0.0	.	308;308;460	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	E	460;393;308	ENSP00000389140:Q460E;ENSP00000397322:Q308E	ENSP00000304146:Q393E	Q	+	1	0	DCC	48937840	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.027000	0.76463	2.648000	0.89879	0.561000	0.74099	CAA		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		G	50683842	C	G	50683842	3	3	83	1	0	0	0	0	1	0	0	0	4282	827	29	3	1408	3	DCC	18	50683842	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09		50683842	27393406	60	4352											
ATP9B	374868	genome.wustl.edu	37	18	77063608	77063608	+	Silent	SNP	C	C	A	rs373609399		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr18:77063608C>A	ENST00000426216.2	+	14	1433	c.1416C>A	c.(1414-1416)acC>acA	p.T472T	ATP9B_ENST00000307671.7_Silent_p.T472T	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	472					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T472T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCCTAGGAACCCTCACCCAGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	18											77	70	72					18																	77063608		2203	4300	6503	75164596	SO:0001819	synonymous_variant	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1416C>A	18.37:g.77063608C>A			75164596	O60872|Q08AD8|Q08AD9	Silent	SNP	ENST00000426216.2	37	CCDS12014.1																																																																																				0.542	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		A	77063608	C	A	77063608	2	1	83	1	0	0	0	0	0	0	0	1	1199	610	22	3		3	ATP9B	18	77063608	Silent	SNP	C	TCGA-13-0791-01A-01W-0372-09	26379766	77063608	1013640	61	4353											
ADNP2	22850	genome.wustl.edu	37	18	77896044	77896044	+	Silent	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr18:77896044C>T	ENST00000262198.4	+	4	3203	c.2748C>T	c.(2746-2748)atC>atT	p.I916I		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	916					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I916I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCAAGTGCATCCACTGCTGTG	0.572																																																1	Substitution - coding silent(1)	ovary(1)	18											91	87	89					18																	77896044		2203	4300	6503	75997035	SO:0001819	synonymous_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2748C>T	18.37:g.77896044C>T			75997035	A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	CCDS32853.1																																																																																				0.572	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		T	77896044	C	T	77896044	2	4	83	1	0	0	0	0	0	0	0	1	324	845	30	2		2	ADNP2	18	77896044	Silent	SNP	C	TCGA-13-0791-01A-01W-0372-09	832436	77896044	181204	62	4354											
ZNF799	90576	genome.wustl.edu	37	19	12501677	12501677	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr19:12501677G>T	ENST00000430385.3	-	4	1735	c.1535C>A	c.(1534-1536)gCc>gAc	p.A512D	ZNF799_ENST00000419318.1_Missense_Mutation_p.A480D|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A299D(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATGACTGAAGGCTTTCTTACA	0.393																																																1	Substitution - Missense(1)	ovary(1)	19											97	101	100					19																	12501677		2201	4300	6501	12362677	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1535C>A	19.37:g.12501677G>T	ENSP00000411084:p.Ala512Asp		12362677		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271406	0.40194	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.14266	2.52;2.52	1.14	-1.82	0.07857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24699	0.0599	M	0.64080	1.96	0.09310	N	1	D	0.60575	0.988	P	0.62184	0.899	T	0.11867	-1.0570	9	0.87932	D	0	.	5.2832	0.15686	0.1757:0.5572:0.2671:0.0	.	512	Q96GE5	ZN799_HUMAN	D	480;512	ENSP00000415278:A480D;ENSP00000411084:A512D	ENSP00000415278:A480D	A	-	2	0	ZNF799	12362677	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.051000	0.03507	-0.438000	0.07232	0.195000	0.17529	GCC		0.393	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12501677	G	T	12501677	3	4	83	1	0	0	0	0	1	0	0	0	18166	1203	42	3	400	3	ZNF799	19	12501677	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09		12501677	46627306	63	4355											
ZNF599	148103	genome.wustl.edu	37	19	35250006	35250006	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr19:35250006T>C	ENST00000329285.8	-	4	2073	c.1700A>G	c.(1699-1701)gAa>gGa	p.E567G		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E567G(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTTTCCACATTCATTGCATTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	19											153	143	146					19																	35250006		2203	4300	6503	39941846	SO:0001583	missense	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1700A>G	19.37:g.35250006T>C	ENSP00000333802:p.Glu567Gly		39941846	Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451446	0.43531	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.07444	3.19	2.43	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11110	0.0271	M	0.77486	2.375	0.09310	N	0.999993	B	0.32753	0.383	B	0.29716	0.106	T	0.18147	-1.0346	9	0.72032	D	0.01	.	6.0624	0.19844	0.229:0.0:0.0:0.771	.	567	Q96NL3	ZN599_HUMAN	G	566;567	ENSP00000333802:E567G	ENSP00000333802:E567G	E	-	2	0	ZNF599	39941846	0.000000	0.05858	0.996000	0.52242	0.990000	0.78478	0.547000	0.23299	0.334000	0.23590	0.402000	0.26972	GAA		0.408	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		C	35250006	T	C	35250006	3	2	83	1	0	0	0	0	1	0	0	0	18029	1783	62	4	70	4	ZNF599	19	35250006	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	22748329	35250006	23878977	64	4356											
CEACAM6	4680	genome.wustl.edu	37	19	42265290	42265290	+	Silent	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr19:42265290G>A	ENST00000199764.6	+	3	776	c.558G>A	c.(556-558)ccG>ccA	p.P186P	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	186	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P186P(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGAGCCTCCCGGTCAGTCCCA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	19											222	198	206					19																	42265290		2203	4299	6502	46957130	SO:0001819	synonymous_variant	4680			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.558G>A	19.37:g.42265290G>A			46957130	Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	CCDS12585.1																																																																																				0.532	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			A	42265290	G	A	42265290	2	1	83	1	0	0	0	0	0	0	0	1	3196	1103	39	1		1	CEACAM6	19	42265290	Silent	SNP	G	TCGA-13-0791-01A-01W-0372-09	7015284	42265290	16863693	65	4357											
ZNF841	284371	genome.wustl.edu	37	19	52569914	52569914	+	Silent	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr19:52569914G>A	ENST00000426391.2	-	5	1424	c.873C>T	c.(871-873)ggC>ggT	p.G291G	ZNF841_ENST00000389534.4_Silent_p.G407G|ZNF432_ENST00000598446.1_Intron|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000594295.1_Silent_p.G407G|ZNF841_ENST00000359973.2_Silent_p.G291G			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	291					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.G291G(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TAAAGGTTTTGCCACATTCAT	0.393																																																1	Substitution - coding silent(1)	ovary(1)	19											122	104	110					19																	52569914		692	1591	2283	57261726	SO:0001819	synonymous_variant	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.873C>T	19.37:g.52569914G>A			57261726	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37																																																																																					0.393	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		A	52569914	G	A	52569914	2	1	83	1	0	0	0	0	0	0	0	1	18189	1306	46	2		2	ZNF841	19	52569914	Silent	SNP	G	TCGA-13-0791-01A-01W-0372-09	10304624	52569914	6559069	66	4358											
MYO18B	84700	genome.wustl.edu	37	22	26423142	26423142	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chr22:26423142A>G	ENST00000407587.2	+	43	7374	c.7205A>G	c.(7204-7206)aAg>aGg	p.K2402R	MYO18B_ENST00000335473.7_Missense_Mutation_p.K2401R|MYO18B_ENST00000536101.1_Missense_Mutation_p.K2401R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2401						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K2402R(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACCTTGGAAAGGAGCCGCTT	0.597																																																1	Substitution - Missense(1)	ovary(1)	22											63	69	67					22																	26423142		1952	4132	6084	24753142	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7205A>G	22.37:g.26423142A>G	ENSP00000386096:p.Lys2402Arg		24753142	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.11|13.11	2.138911|2.138911	0.37728|0.37728	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.87491|.	-2.24;-2.24;-2.26|.	5.12|5.12	2.94|2.94	0.34122|0.34122	.|.	0.467890|.	0.18958|.	N|.	0.126479|.	T|T	0.34890|0.34890	0.0913|0.0913	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	P;P;P;D;P|.	0.76494|.	0.865;0.881;0.881;0.999;0.927|.	B;B;B;D;P|.	0.68765|.	0.421;0.322;0.322;0.96;0.521|.	T|T	0.27536|0.27536	-1.0071|-1.0071	10|5	0.54805|.	T|.	0.06|.	.|.	2.6085|2.6085	0.04884|0.04884	0.6107:0.1552:0.0847:0.1495|0.6107:0.1552:0.0847:0.1495	.|.	1914;2403;2401;2402;2401|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	R|G	2401;2401;2402|351	ENSP00000441229:K2401R;ENSP00000334563:K2401R;ENSP00000386096:K2402R|.	ENSP00000334563:K2401R|.	K|R	+|+	2|1	0|2	MYO18B|MYO18B	24753142|24753142	0.148000|0.148000	0.22702|0.22702	0.498000|0.498000	0.27564|0.27564	0.466000|0.466000	0.32739|0.32739	0.646000|0.646000	0.24797|0.24797	0.757000|0.757000	0.33036|0.33036	0.459000|0.459000	0.35465|0.35465	AAG|AGG		0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		G	26423142	A	G	26423142	3	3	83	1	0	0	0	0	1	0	0	0	10066	72	3	4	7368	4	MYO18B	22	26423142	Missense_Mutation	SNP	A	TCGA-13-0791-01A-01W-0372-09		26423142	24881424	67	4359											
ATXN3L	92552	genome.wustl.edu	37	X	13337616	13337616	+	Silent	SNP	T	T	G			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chrX:13337616T>G	ENST00000380622.2	-	1	902	c.438A>C	c.(436-438)acA>acC	p.T146T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	146	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.T146T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGCAAGGCATGTATCTGATA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	X											65	61	62					X																	13337616		1568	3582	5150	13247537	SO:0001819	synonymous_variant	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.438A>C	X.37:g.13337616T>G			13247537	B2RNY8	Silent	SNP	ENST00000380622.2	37	CCDS48080.1																																																																																				0.373	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		G	13337616	T	G	13337616	2	3	83	1	0	0	0	0	0	0	0	1	1214	1451	51	5		5	ATXN3L	23	13337616	Silent	SNP	T	TCGA-13-0791-01A-01W-0372-09		13337616	141932944	68	4360											
DCAF8L1	139425	genome.wustl.edu	37	X	27998165	27998165	+	Silent	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chrX:27998165C>T	ENST00000441525.1	-	1	1401	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	429								p.K429K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCTTATATCTCTTAACATATT	0.453																																																1	Substitution - coding silent(1)	ovary(1)	X											64	58	60					X																	27998165		2202	4300	6502	27908086	SO:0001819	synonymous_variant	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1287G>A	X.37:g.27998165C>T			27908086	B3KXX1	Silent	SNP	ENST00000441525.1	37	CCDS35222.1																																																																																				0.453	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		T	27998165	C	T	27998165	2	4	83	1	0	0	0	0	0	0	0	1	4277	912	32	2		2	DCAF8L1	23	27998165	Silent	SNP	C	TCGA-13-0791-01A-01W-0372-09	14660549	27998165	127272395	69	4361											
WDR13	64743	genome.wustl.edu	37	X	48458030	48458030	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chrX:48458030G>A	ENST00000218056.5	+	4	953	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.G150R	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	150						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G150R(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GGCCATGGCCGGGGACACGTC	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											99	82	88					X																	48458030		2203	4300	6503	48342974	SO:0001583	missense	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.448G>A	X.37:g.48458030G>A	ENSP00000218056:p.Gly150Arg		48342974	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963100	0.74016	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.71698	-0.59;-0.59	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.35854	1.095	0.80722	D	1	P;B	0.40050	0.7;0.109	B;B	0.31191	0.125;0.022	T	0.61763	-0.6996	10	0.39692	T	0.17	-20.0815	15.6128	0.76740	0.0:0.0:1.0:0.0	.	28;150	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	R	150	ENSP00000365919:G150R;ENSP00000218056:G150R	ENSP00000218056:G150R	G	+	1	0	WDR13	48342974	1.000000	0.71417	0.990000	0.47175	0.931000	0.56810	8.609000	0.90898	2.281000	0.76405	0.529000	0.55759	GGG		0.617	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			A	48458030	G	A	48458030	3	1	83	1	0	0	0	0	1	0	0	0	17275	1116	39	1	462	1	WDR13	23	48458030	Missense_Mutation	SNP	G	TCGA-13-0791-01A-01W-0372-09	20459865	48458030	106812530	70	4362											
EDA	1896	genome.wustl.edu	37	X	68836277	68836277	+	Missense_Mutation	SNP	T	T	G	rs149975042		TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chrX:68836277T>G	ENST00000374552.4	+	1	367	c.125T>G	c.(124-126)cTc>cGc	p.L42R	EDA_ENST00000524573.1_Missense_Mutation_p.L42R|EDA_ENST00000527388.1_Missense_Mutation_p.L42R|EDA_ENST00000374553.2_Missense_Mutation_p.L42R|EDA_ENST00000525810.1_Missense_Mutation_p.L42R|EDA_ENST00000338901.3_Missense_Mutation_p.L42R|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	42					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.L42R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						AGCTGCCTGCTCTTCCTGGGT	0.697																																																1	Substitution - Missense(1)	ovary(1)	X						T	ARG/LEU,ARG/LEU,ARG/LEU,ARG/LEU,ARG/LEU	0,3835		0,0,1632,571	57	43	47		125,125,125,125,125	4.8	1	X	dbSNP_134	47	1,6727		0,1,2427,1872	no	missense,missense,missense,missense,missense	EDA	NM_001005609.1,NM_001005610.2,NM_001005612.2,NM_001005613.2,NM_001399.4	102,102,102,102,102	0,1,4059,2443	GG,GT,TT,T		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	42/390,42/136,42/387,42/149,42/392	68836277	1,10562	2203	4300	6503	68753002	SO:0001583	missense	1896			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.125T>G	X.37:g.68836277T>G	ENSP00000363680:p.Leu42Arg		68753002	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.803362	0.50315	0.0	1.49E-4	ENSG00000158813	ENST00000513754;ENST00000338901;ENST00000374552;ENST00000374553;ENST00000525810;ENST00000527388;ENST00000524573	D;D;D;D;D;D	0.98362	-4.89;-3.95;-3.99;-4.85;-4.89;-3.84	4.8	4.8	0.61643	.	0.092912	0.45606	D	0.000345	D	0.97564	0.9202	L	0.27053	0.805	0.40130	D	0.976704	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.78314	0.964;0.921;0.964;0.991;0.991;0.987;0.991;0.991	D	0.98366	1.0551	10	0.87932	D	0	-10.143	11.1641	0.48533	0.0:0.0:0.0:1.0	.	42;42;42;42;42;42;42;42	Q92838-9;Q92838;Q92838-3;Q92838-8;Q92838-6;Q92838-2;Q92838-7;Q92838-5	.;EDA_HUMAN;.;.;.;.;.;.	R	42	ENSP00000340611:L42R;ENSP00000363680:L42R;ENSP00000363681:L42R;ENSP00000434195:L42R;ENSP00000434861:L42R;ENSP00000432585:L42R	ENSP00000340611:L42R	L	+	2	0	EDA	68753002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.686000	0.61700	1.761000	0.52028	0.486000	0.48141	CTC		0.697	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		G	68836277	T	G	68836277	3	3	83	1	0	0	0	0	1	0	0	0	4903	1551	54	5	127	5	EDA	23	68836277	Missense_Mutation	SNP	T	TCGA-13-0791-01A-01W-0372-09	20378247	68836277	86434283	71	4363											
LAMP2	3920	genome.wustl.edu	37	X	119582824	119582824	+	Splice_Site	SNP	C	C	A			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chrX:119582824C>A	ENST00000200639.4	-	4	693		c.e4+1		LAMP2_ENST00000538785.1_Splice_Site|LAMP2_ENST00000371335.4_Splice_Site|LAMP2_ENST00000434600.2_Splice_Site|LAMP2_ENST00000540603.1_Splice_Site			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)	p.?(1)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACTTTACTCACCATTTGTGCT	0.333																																																1	Unknown(1)	ovary(1)	X											79	74	76					X																	119582824		2203	4300	6503	119466852	SO:0001630	splice_region_variant	3920			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.556+1G>T	X.37:g.119582824C>A			119466852	A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Splice_Site	SNP	ENST00000200639.4	37	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975812	0.53720	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5831	0.68305	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMP2	119466852	1.000000	0.71417	0.901000	0.35422	0.769000	0.43574	5.351000	0.66022	2.437000	0.82529	0.538000	0.68166	.		0.333	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1		Intron	A	119582824	C	A	119582824	5	1	83	1	0	0	0	0	0	0	1	0	8618	521	18	3	990	3	LAMP2	23	119582824	Splice_Site	SNP	C	TCGA-13-0791-01A-01W-0372-09	50746547	119582824	35687736	72	4364											
MTMR1	8776	genome.wustl.edu	37	X	149901048	149901048	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0791-01A-01W-0372-09	TCGA-13-0791-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	70f63e2f-9bc6-4ed9-8d91-f1889287d7b7	65955726-5cf6-4150-9ad1-e68ce5aa7d6a	g.chrX:149901048C>T	ENST00000370390.3	+	9	1059	c.902C>T	c.(901-903)aCg>aTg	p.T301M	MTMR1_ENST00000538506.1_Missense_Mutation_p.T188M|MTMR1_ENST00000445323.2_Missense_Mutation_p.T309M|MTMR1_ENST00000451863.2_Missense_Mutation_p.T301M|MTMR1_ENST00000542156.1_Missense_Mutation_p.T301M|MTMR1_ENST00000544228.1_Missense_Mutation_p.T301M|MTMR1_ENST00000541925.1_Missense_Mutation_p.T207M	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	301	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.T301M(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAAGCAACGATTACCCGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	X											76	63	67					X																	149901048		2203	4300	6503	149651706	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.902C>T	X.37:g.149901048C>T	ENSP00000359417:p.Thr301Met		149651706	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766385	0.90020	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.93	5.93	0.95920	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.043909	0.85682	D	0.000000	D	0.96371	0.8816	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.971;0.958;0.983	D	0.96771	0.9568	10	0.87932	D	0	.	19.2891	0.94092	0.0:1.0:0.0:0.0	.	301;309;301	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	M	207;301;301;309;301;301;188	ENSP00000441879:T207M;ENSP00000445281:T301M;ENSP00000359417:T301M;ENSP00000414178:T309M;ENSP00000440534:T301M;ENSP00000387446:T301M;ENSP00000443444:T188M	ENSP00000359417:T301M	T	+	2	0	MTMR1	149651706	1.000000	0.71417	0.765000	0.31456	0.901000	0.52897	7.818000	0.86416	2.508000	0.84585	0.523000	0.50628	ACG		0.408	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		T	149901048	C	T	149901048	3	4	83	1	0	0	0	0	1	0	0	0	9938	536	19	1	936	1	MTMR1	23	149901048	Missense_Mutation	SNP	C	TCGA-13-0791-01A-01W-0372-09	30318224	149901048	5369512	73	4365											
PRKCZ	5590	hgsc.bcm.edu	37	1	2082293	2082293	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr1:2082293A>C	ENST00000400921.2	+	6	886	c.203A>C	c.(202-204)gAc>gCc	p.D68A	PRKCZ_ENST00000400920.1_Missense_Mutation_p.D68A|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	251	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.D251A(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	GGGCTGCAGGACTTTGACCTA	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											80	79	79					1																	2082293		2203	4300	6503	2072153	SO:0001583	missense	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.203A>C	1.37:g.2082293A>C	ENSP00000383712:p.Asp68Ala		2072153	A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324928	0.81580	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000496325;ENST00000482686;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000497183	T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.85;1.7;3.01;3.01;3.01	4.8	4.8	0.61643	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.998	P;D;D	0.73708	0.895;0.981;0.975	T	0.37957	-0.9683	10	0.87932	D	0	.	13.6712	0.62427	1.0:0.0:0.0:0.0	.	147;75;251	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	A	251;68;147;68;68;68;68;64;68;68;64	ENSP00000367830:D251A;ENSP00000383712:D68A;ENSP00000426412:D147A;ENSP00000424228:D68A;ENSP00000383711:D68A;ENSP00000424763:D64A;ENSP00000421219:D68A;ENSP00000422764:D64A	ENSP00000367830:D251A	D	+	2	0	PRKCZ	2072153	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.493000	0.90474	2.016000	0.59253	0.482000	0.46254	GAC		0.517	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		C	2082293	A	C	2082293	3	2	84	1	0	0	0	0	1	0	0	0	12520	275	10	5	786	5	PRKCZ	1	2082293	Missense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10		2082293	247168328	1	4366											
OSCP1	127700	hgsc.bcm.edu	37	1	36888393	36888393	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr1:36888393C>T	ENST00000356637.5	-	7	818	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	OSCP1_ENST00000315643.9_Missense_Mutation_p.R252Q|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000433045.2_Missense_Mutation_p.R197Q|OSCP1_ENST00000235532.5_Missense_Mutation_p.R242Q			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	252					transport (GO:0006810)	plasma membrane (GO:0005886)		p.R252Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TTTCAGGACTCGGTCTCCATA	0.388																																																1	Substitution - Missense(1)	ovary(1)	1											124	116	119					1																	36888393		2203	4300	6503	36660980	SO:0001583	missense	127700				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.755G>A	1.37:g.36888393C>T	ENSP00000349052:p.Arg252Gln		36660980	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37		.	.	.	.	.	.	.	.	.	.	C	35	5.495610	0.96355	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643	T;T;T;T;T	0.36878	1.63;1.67;1.23;1.25;1.56	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61476	0.2350	M	0.72894	2.215	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.974	T	0.62172	-0.6910	10	0.59425	D	0.04	.	18.6261	0.91340	0.0:1.0:0.0:0.0	.	242;252	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	Q	242;252;197;212;252	ENSP00000235532:R242Q;ENSP00000349052:R252Q;ENSP00000390820:R197Q;ENSP00000396417:R212Q;ENSP00000314541:R252Q	ENSP00000235532:R242Q	R	-	2	0	OSCP1	36660980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.027000	0.76463	2.657000	0.90304	0.655000	0.94253	CGA		0.388	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		T	36888393	C	T	36888393	3	4	84	1	0	0	0	0	1	0	0	0	11286	884	31	1	434	1	OSCP1	1	36888393	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10	34806100	36888393	212362228	2	4367											
ACOT11	26027	hgsc.bcm.edu	37	1	55059671	55059671	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr1:55059671A>T	ENST00000371316.3	+	5	512	c.430A>T	c.(430-432)Aag>Tag	p.K144*	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Nonsense_Mutation_p.K144*	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	144	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.K144*(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GAATGTGTGCAAGGCCTTGGC	0.607																																					Ovarian(148;1440 1861 22015 32453 51933)											1	Substitution - Nonsense(1)	ovary(1)	1											91	84	87					1																	55059671		2203	4300	6503	54832259	SO:0001587	stop_gained	26027			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.430A>T	1.37:g.55059671A>T	ENSP00000360366:p.Lys144*		54832259	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Nonsense_Mutation	SNP	ENST00000371316.3	37	CCDS592.1	.	.	.	.	.	.	.	.	.	.	A	37	6.018673	0.97205	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	.	.	.	5.05	5.05	0.67936	.	0.200555	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-15.7356	9.361	0.38195	0.92:0.0:0.08:0.0	.	.	.	.	X	144	.	ENSP00000340260:K144X	K	+	1	0	ACOT11	54832259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.582000	0.60957	1.895000	0.54865	0.459000	0.35465	AAG		0.607	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		T	55059671	A	T	55059671	4	4	84	1	0	0	0	0	0	1	0	0	149	131	5	5	448	5	ACOT11	1	55059671	Nonsense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10	18171278	55059671	194190950	3	4368											
SIKE1	80143	hgsc.bcm.edu	37	1	115323057	115323057	+	Intron	SNP	C	C	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr1:115323057C>A	ENST00000060969.5	-	1	229				SIKE1_ENST00000506320.1_Intron|SIKE1_ENST00000369528.5_Splice_Site			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1						innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGGACTCCTACCCTCTGCCTG	0.662																																																0			1											38	45	43					1																	115323057		2203	4300	6503	115124580	SO:0001627	intron_variant	80143			AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"suppressor of IKK epsilon"	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.159+12G>T	1.37:g.115323057C>A			115124580	Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Splice_Site	SNP	ENST00000060969.5	37	CCDS878.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036532	0.54896	.	.	ENSG00000052723	ENST00000369528	.	.	.	5.06	1.66	0.24008	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3754	0.60736	0.0:0.41:0.59:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIKE1	115124580	0.001000	0.12720	0.101000	0.21167	0.699000	0.40488	0.206000	0.17375	0.674000	0.31244	0.655000	0.94253	.		0.662	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1	NM_025073		A	115323057	C	A	115323057	1	1	84	0	1	0	0	0	0	0	0	0	14323	521	18	3		3	SIKE1	1	115323057	Intron	SNP	C	TCGA-13-0792-01A-01W-0370-10	60263386	115323057	133927564	4	4369											
RXFP4	339403	hgsc.bcm.edu	37	1	155912014	155912021	+	Frame_Shift_Del	DEL	GTGACGGT	GTGACGGT	-			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	GTGACGGT	GTGACGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr1:155912014_155912021delGTGACGGT	ENST00000368318.3	+	1	535_542	c.514_521delGTGACGGT	c.(514-522)gtgacggtgfs	p.VTV172fs		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)	p.V172fs*10(1)		endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCTGCCCTGGTGACGGTGCCCACAGCT	0.678																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								154178645	SO:0001589	frameshift_variant	339403			AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"GPCR / Class A : Relaxin family peptide receptors"	14666	protein-coding gene	gene with protein product		609043	"G protein-coupled receptor 100", "relaxin 3 receptor 2", "relaxin family peptide receptor 4"	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.514_521delGTGACGGT	1.37:g.155912014_155912021delGTGACGGT	ENSP00000357301:p.Val172fs		154178638	B0M0L4|Q3MJB1|Q8NGZ8	Frame_Shift_Del	DEL	ENST00000368318.3	37	CCDS1124.1																																																																																				0.678	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885		-	155912021	GTGACGGT	-	155912014	7	5	84	1	0	1	0	1	0	0	0	0	13765	1261	44	0	516	0	RXFP4	1	155912014	Frame_Shift_Del	DEL	GTGACGGT	TCGA-13-0792-01A-01W-0370-10	40588957	155912014	93338607	5	4370											
CNTN2	6900	hgsc.bcm.edu	37	1	205039084	205039084	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr1:205039084G>C	ENST00000331830.4	+	18	2610	c.2326G>C	c.(2326-2328)Gag>Cag	p.E776Q		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	776	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.E776Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTACAGCAACGAGAGCGTCCG	0.652																																					Melanoma(183;2548 2817 37099 41192)											1	Substitution - Missense(1)	ovary(1)	1											66	70	69					1																	205039084		2203	4300	6503	203305707	SO:0001583	missense	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2326G>C	1.37:g.205039084G>C	ENSP00000330633:p.Glu776Gln		203305707	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521667	0.85600	.	.	ENSG00000184144	ENST00000331830	T	0.57595	0.39	5.07	4.13	0.48395	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.363581	0.22891	N	0.054398	T	0.63165	0.2488	L	0.60067	1.865	0.34947	D	0.750884	P;P	0.46064	0.653;0.872	P;P	0.55545	0.677;0.778	T	0.70741	-0.4789	10	0.33940	T	0.23	.	14.9717	0.71238	0.0:0.1439:0.8561:0.0	.	776;667	Q02246;Q68DA2	CNTN2_HUMAN;.	Q	776	ENSP00000330633:E776Q	ENSP00000330633:E776Q	E	+	1	0	CNTN2	203305707	1.000000	0.71417	0.185000	0.23176	0.988000	0.76386	4.526000	0.60566	1.091000	0.41335	0.467000	0.42956	GAG		0.652	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		C	205039084	G	C	205039084	3	2	84	1	0	0	0	0	1	0	0	0	3641	1059	37	3	2392	3	CNTN2	1	205039084	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	49127070	205039084	44211537	6	4371											
TET3	200424	hgsc.bcm.edu	37	2	74326701	74326703	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr2:74326701_74326703delAGG	ENST00000409262.3	+	8	3161_3163	c.3161_3163delAGG	c.(3160-3165)caggag>cag	p.E1055del		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1055					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.E332delE(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGATCAAGCAGGAGGCCCTGGA	0.631																																																1	Deletion - In frame(1)	ovary(1)	2																																								74180211	SO:0001651	inframe_deletion	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3161_3163delAGG	2.37:g.74326704_74326706delAGG	ENSP00000386869:p.Glu1055del		74180209	A6NEI3|Q86Z24|Q8TBM9	In_Frame_Del	DEL	ENST00000409262.3	37	CCDS46339.1																																																																																				0.631	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			-	74326703	AGG	-	74326701	7	5	84	1	0	1	0	1	0	0	0	0	15771	188	7	0	3191	0	TET3	2	74326701	In_Frame_Del	DEL	AGG	TCGA-13-0792-01A-01W-0370-10		74326701	168872672	7	4372											
TTN	7273	hgsc.bcm.edu	37	2	179472320	179472320	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr2:179472320G>A	ENST00000591111.1	-	227	48396	c.48172C>T	c.(48172-48174)Cgc>Tgc	p.R16058C	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8826C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R17699C|TTN_ENST00000342992.6_Missense_Mutation_p.R15131C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8759C|TTN_ENST00000460472.2_Missense_Mutation_p.R8634C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16058	Ig-like 99.		R -> H. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R8634C(1)|p.R15131C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTACAGGGCGACCAGTCACC	0.443																																																2	Substitution - Missense(2)	ovary(2)	2											270	257	261					2																	179472320		1880	4106	5986	179180565	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48172C>T	2.37:g.179472320G>A	ENSP00000465570:p.Arg16058Cys		179180565	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.40	1.628653	0.28978	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82806	0.5117	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.971;0.971;0.971;0.984	T	0.83245	-0.0056	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	8634;8759;8826;16058	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	15131;8634;8826;8759;8634	ENSP00000343764:R15131C;ENSP00000434586:R8634C;ENSP00000340554:R8826C;ENSP00000352154:R8759C	ENSP00000340554:R8826C	R	-	1	0	TTN	179180565	1.000000	0.71417	0.985000	0.45067	0.833000	0.47200	5.768000	0.68858	2.840000	0.97914	0.655000	0.94253	CGC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179472320	G	A	179472320	3	1	84	1	0	0	0	0	1	0	0	0	16735	1058	37	1	54942	1	TTN	2	179472320	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	105145619	179472320	63727053	8	4373											
MAGI1	9223	hgsc.bcm.edu	37	3	65342580	65342580	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr3:65342580T>C	ENST00000402939.2	-	23	3861	c.3862A>G	c.(3862-3864)Aaa>Gaa	p.K1288E	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1317					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.K1288E(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTGTCGGGTTTCCTCGAAGTC	0.662																																																1	Substitution - Missense(1)	ovary(1)	3											115	110	112					3																	65342580		2203	4300	6503	65317620	SO:0001583	missense	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3862A>G	3.37:g.65342580T>C	ENSP00000385450:p.Lys1288Glu		65317620	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	T	2.666	-0.278710	0.05679	.	.	ENSG00000151276	ENST00000402939	T	0.11930	2.73	4.7	3.47	0.39725	.	0.791339	0.11914	N	0.517366	T	0.07413	0.0187	N	0.19112	0.55	0.34636	D	0.720112	B	0.15473	0.013	B	0.19391	0.025	T	0.17198	-1.0377	10	0.02654	T	1	-2.0052	7.5917	0.28025	0.0:0.0775:0.1406:0.7819	.	1288	Q96QZ7-2	.	E	1288	ENSP00000385450:K1288E	ENSP00000385450:K1288E	K	-	1	0	MAGI1	65317620	0.128000	0.22383	0.565000	0.28409	0.009000	0.06853	1.493000	0.35605	1.743000	0.51761	0.459000	0.35465	AAA		0.662	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		C	65342580	T	C	65342580	3	2	84	1	0	0	0	0	1	0	0	0	9190	1792	62	4	530	4	MAGI1	3	65342580	Missense_Mutation	SNP	T	TCGA-13-0792-01A-01W-0370-10		65342580	132679850	9	4374											
MCM2	4171	hgsc.bcm.edu	37	3	127323825	127323825	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr3:127323825A>G	ENST00000265056.7	+	4	743	c.499A>G	c.(499-501)Atg>Gtg	p.M167V		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	167	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.M167V(1)		ovary(3)|skin(2)|stomach(1)	6						GGACGAGGAGATGATCGAGAG	0.667																																																1	Substitution - Missense(1)	ovary(1)	3											64	60	61					3																	127323825		2203	4300	6503	128806515	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.499A>G	3.37:g.127323825A>G	ENSP00000265056:p.Met167Val		128806515	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.113347	0.37339	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.21932	1.98	5.29	5.29	0.74685	.	0.206891	0.64402	D	0.000020	T	0.28599	0.0708	L	0.41124	1.26	0.80722	D	1	P;B;B	0.39576	0.679;0.323;0.16	P;B;B	0.50791	0.65;0.267;0.038	T	0.02713	-1.1120	10	0.15952	T	0.53	-48.5668	15.2415	0.73474	1.0:0.0:0.0:0.0	.	148;37;167	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	V	167;71;148	ENSP00000265056:M167V	ENSP00000265056:M167V	M	+	1	0	MCM2	128806515	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.124000	0.94394	1.997000	0.58415	0.482000	0.46254	ATG		0.667	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			G	127323825	A	G	127323825	3	3	84	1	0	0	0	0	1	0	0	0	9386	333	12	4	513	4	MCM2	3	127323825	Missense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10	61981245	127323825	70698605	10	4375											
LRRC15	131578	hgsc.bcm.edu	37	3	194080860	194080860	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr3:194080860T>C	ENST00000347624.3	-	2	998	c.913A>G	c.(913-915)Atc>Gtc	p.I305V	LRRC15_ENST00000428839.1_Missense_Mutation_p.I311V|LRRC15_ENST00000439944.2_Missense_Mutation_p.I311V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	305					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.I305V(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGAGAAGAGATGTGGTTGTCA	0.547																																																1	Substitution - Missense(1)	ovary(1)	3											58	63	61					3																	194080860		2203	4300	6503	195562155	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.913A>G	3.37:g.194080860T>C	ENSP00000306276:p.Ile305Val		195562155	Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	T	7.574	0.667302	0.14710	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.60920	0.15;0.15;0.15	4.99	2.48	0.30137	.	0.323485	0.25386	N	0.031054	T	0.57592	0.2064	M	0.69523	2.12	0.20821	N	0.999848	B;B	0.26744	0.123;0.158	B;B	0.30179	0.112;0.068	T	0.55386	-0.8149	10	0.72032	D	0.01	.	12.9155	0.58203	0.0:0.0:0.6087:0.3913	.	305;311	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	V	305;311;311	ENSP00000306276:I305V;ENSP00000389128:I311V;ENSP00000413707:I311V	ENSP00000306276:I305V	I	-	1	0	LRRC15	195562155	1.000000	0.71417	0.836000	0.33094	0.471000	0.32888	0.831000	0.27476	0.263000	0.21812	0.533000	0.62120	ATC		0.547	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			C	194080860	T	C	194080860	3	2	84	1	0	0	0	0	1	0	0	0	8970	1464	51	4	836	4	LRRC15	3	194080860	Missense_Mutation	SNP	T	TCGA-13-0792-01A-01W-0370-10	66757035	194080860	3941570	11	4376											
PIGZ	80235	hgsc.bcm.edu	37	3	196675226	196675226	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr3:196675226T>A	ENST00000412723.1	-	3	688	c.542A>T	c.(541-543)gAg>gTg	p.E181V	PIGZ_ENST00000443835.1_Missense_Mutation_p.R78W	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	181					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.E181V(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GAGGAGTCCCTCAATGGTGTT	0.652																																																1	Substitution - Missense(1)	ovary(1)	3											121	100	107					3																	196675226		2203	4300	6503	198159623	SO:0001583	missense	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.542A>T	3.37:g.196675226T>A	ENSP00000413405:p.Glu181Val		198159623	Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	CCDS3324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.73|18.73	3.686414|3.686414	0.68157|0.68157	.|.	.|.	ENSG00000119227|ENSG00000119227	ENST00000412723|ENST00000443835	T|.	0.70869|.	-0.52|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.124148|.	0.36740|.	N|.	0.002429|.	T|T	0.80722|0.80722	0.4677|0.4677	H|H	0.94264|0.94264	3.515|3.515	0.33093|0.33093	D|D	0.538175|0.538175	D|.	0.60160|.	0.987|.	D|.	0.63597|.	0.916|.	D|D	0.89356|0.89356	0.3664|0.3664	10|6	0.87932|0.72032	D|D	0|0.01	-13.1555|-13.1555	14.5191|14.5191	0.67840|0.67840	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	181|.	Q86VD9|.	PIGZ_HUMAN|.	V|W	181|78	ENSP00000413405:E181V|.	ENSP00000413405:E181V|ENSP00000389327:R78W	E|R	-|-	2|1	0|2	PIGZ|PIGZ	198159623|198159623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	5.165000|5.165000	0.64959|0.64959	2.100000|2.100000	0.63781|0.63781	0.444000|0.444000	0.29173|0.29173	GAG|AGG		0.652	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		A	196675226	T	A	196675226	3	1	84	1	0	0	0	0	1	0	0	0	11905	1551	54	5	1201	5	PIGZ	3	196675226	Missense_Mutation	SNP	T	TCGA-13-0792-01A-01W-0370-10	2594366	196675226	1347204	12	4377											
DLG1	1739	hgsc.bcm.edu	37	3	196863492	196863492	+	Missense_Mutation	SNP	C	C	T	rs147695740		TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr3:196863492C>T	ENST00000419354.1	-	11	1326	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N	DLG1_ENST00000422288.1_Missense_Mutation_p.S296N|DLG1_ENST00000448528.2_Missense_Mutation_p.S347N|DLG1_ENST00000357674.4_Missense_Mutation_p.S314N|DLG1_ENST00000443183.1_Missense_Mutation_p.S231N|DLG1_ENST00000346964.2_Missense_Mutation_p.S347N|DLG1_ENST00000452595.1_Missense_Mutation_p.S231N|DLG1_ENST00000314062.3_Missense_Mutation_p.S296N|DLG1_ENST00000450955.1_Missense_Mutation_p.S314N|DLG1_ENST00000392382.2_Missense_Mutation_p.S314N			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	347	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.S347N(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TACATAGATGCTATTATCCCC	0.368																																																1	Substitution - Missense(1)	ovary(1)	3						C	ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER	0,4406		0,0,2203	159	145	150		1040,941,692,692,1040	5.4	1	3	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	DLG1	NM_001098424.1,NM_001204386.1,NM_001204387.1,NM_001204388.1,NM_004087.2	46,46,46,46,46	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	347/905,314/893,231/801,231/789,347/927	196863492	2,13004	2203	4300	6503	198347889	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1040G>A	3.37:g.196863492C>T	ENSP00000407531:p.Ser347Asn		198347889	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631430	0.67015	0.0	2.33E-4	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.41	5.41	0.78517	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	M	0.62209	1.925	0.80722	D	1	B;B;B;B;B;B;B	0.27498	0.011;0.042;0.033;0.033;0.027;0.087;0.18	B;B;B;B;B;B;B	0.29440	0.02;0.058;0.051;0.051;0.051;0.102;0.073	T	0.09079	-1.0691	10	0.33940	T	0.23	.	18.5365	0.91013	0.0:1.0:0.0:0.0	.	314;231;231;231;314;347;347	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	N	347;347;314;347;296;347;231;296;347;231;314;314;156	ENSP00000345731:S347N;ENSP00000350303:S314N;ENSP00000321087:S296N;ENSP00000407531:S347N;ENSP00000398939:S231N;ENSP00000413238:S296N;ENSP00000391732:S347N;ENSP00000396658:S231N;ENSP00000376187:S314N;ENSP00000411278:S314N;ENSP00000398702:S156N	ENSP00000321087:S296N	S	-	2	0	DLG1	198347889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.426000	0.80270	2.695000	0.91970	0.655000	0.94253	AGC		0.368	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		T	196863492	C	T	196863492	3	4	84	1	0	0	0	0	1	0	0	0	4554	797	28	2	1842	2	DLG1	3	196863492	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10	188266	196863492	1158938	13	4378											
UNC5C	8633	hgsc.bcm.edu	37	4	96140248	96140248	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr4:96140248G>A	ENST00000453304.1	-	9	1865	c.1517C>T	c.(1516-1518)aCc>aTc	p.T506I	UNC5C_ENST00000506749.1_Missense_Mutation_p.T525I	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	506					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.T506I(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAACGACTGGGTCATCTGAGG	0.527																																																1	Substitution - Missense(1)	ovary(1)	4											165	139	148					4																	96140248		2203	4300	6503	96359271	SO:0001583	missense	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1517C>T	4.37:g.96140248G>A	ENSP00000406022:p.Thr506Ile		96359271	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596332	0.46318	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.58506	0.63;0.33;0.37	5.45	4.59	0.56863	.	0.265513	0.43416	D	0.000566	T	0.46268	0.1384	N	0.25647	0.755	0.80722	D	1	B;P;P	0.49961	0.399;0.93;0.93	B;B;B	0.41571	0.147;0.36;0.36	T	0.42189	-0.9466	10	0.35671	T	0.21	.	15.9412	0.79756	0.0:0.1354:0.8646:0.0	.	506;525;506	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	I	506;465;525;525	ENSP00000406022:T506I;ENSP00000426924:T525I;ENSP00000426153:T525I	ENSP00000328673:T465I	T	-	2	0	UNC5C	96359271	1.000000	0.71417	0.995000	0.50966	0.891000	0.51852	5.786000	0.69006	1.246000	0.43901	0.655000	0.94253	ACC		0.527	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		A	96140248	G	A	96140248	3	1	84	1	0	0	0	0	1	0	0	0	16993	1261	44	2	1310	2	UNC5C	4	96140248	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10		96140248	95014028	14	4379											
ADAMTS16	170690	hgsc.bcm.edu	37	5	5319202	5319202	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr5:5319202A>T	ENST00000274181.7	+	23	3764	c.3626A>T	c.(3625-3627)aAg>aTg	p.K1209M		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1209	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K1209M(1)|p.K1209R(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCAGCCACAAGTTCTACGGC	0.522																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	5											49	51	50					5																	5319202		2018	4182	6200	5372202	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3626A>T	5.37:g.5319202A>T	ENSP00000274181:p.Lys1209Met		5372202	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458093	0.63401	.	.	ENSG00000145536	ENST00000274181	T	0.52057	0.68	4.54	-5.19	0.02832	PLAC (2);	0.457730	0.21722	N	0.070120	T	0.44685	0.1305	L	0.52573	1.65	0.34882	D	0.744689	D	0.55172	0.97	P	0.57548	0.823	T	0.53837	-0.8382	10	0.31617	T	0.26	.	5.5384	0.17023	0.3497:0.2716:0.3787:0.0	.	1209	Q8TE57	ATS16_HUMAN	M	1209	ENSP00000274181:K1209M	ENSP00000274181:K1209M	K	+	2	0	ADAMTS16	5372202	0.996000	0.38824	0.002000	0.10522	0.884000	0.51177	1.172000	0.31908	-1.055000	0.03209	0.383000	0.25322	AAG		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5319202	A	T	5319202	3	4	84	1	0	0	0	0	1	0	0	0	261	72	3	5	3716	5	ADAMTS16	5	5319202	Missense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10		5319202	175596058	15	4380											
CTNND2	1501	hgsc.bcm.edu	37	5	11159781	11159781	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr5:11159781G>T	ENST00000304623.8	-	12	2255	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H	CTNND2_ENST00000511377.1_Missense_Mutation_p.P598H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.P689H|CTNND2_ENST00000503622.1_Missense_Mutation_p.P352H|CTNND2_ENST00000458100.2_Missense_Mutation_p.P256H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	689					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P689H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCCTGAGTGGGGGATAATCAC	0.527																																																1	Substitution - Missense(1)	ovary(1)	5											192	169	177					5																	11159781		2203	4300	6503	11212781	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2066C>A	5.37:g.11159781G>T	ENSP00000307134:p.Pro689His		11212781	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917770	0.92249	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.89311	0.3633	10	0.87932	D	0	-26.8118	20.8598	0.99761	0.0:0.0:1.0:0.0	.	352;256;689	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	689;689;598;256;352	ENSP00000307134:P689H;ENSP00000352661:P689H;ENSP00000426510:P598H;ENSP00000391155:P256H;ENSP00000426887:P352H	ENSP00000307134:P689H	P	-	2	0	CTNND2	11212781	1.000000	0.71417	0.984000	0.44739	0.925000	0.55904	9.383000	0.97214	2.937000	0.99478	0.650000	0.86243	CCC		0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		T	11159781	G	T	11159781	3	4	84	1	0	0	0	0	1	0	0	0	4020	1232	43	3	1655	3	CTNND2	5	11159781	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	5840579	11159781	169755479	16	4381											
ANKHD1	54882	hgsc.bcm.edu	37	5	139903764	139903764	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr5:139903764C>G	ENST00000360839.2	+	25	4585	c.4431C>G	c.(4429-4431)aaC>aaG	p.N1477K	ANKHD1_ENST00000297183.6_Missense_Mutation_p.N1477K|ANKHD1_ENST00000544120.1_5'Flank|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.N1477K	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1477						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.N1477K(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAGAAAACAAACCTAAGG	0.363																																																2	Substitution - Missense(2)	ovary(2)	5											130	123	125					5																	139903764		2203	4300	6503	139883948	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4431C>G	5.37:g.139903764C>G	ENSP00000354085:p.Asn1477Lys		139883948	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626776	0.28978	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000431508;ENST00000532219	T;T;T;T;T	0.64438	-0.06;-0.1;-0.01;1.97;-0.1	5.0	4.11	0.48088	.	0.354425	0.32640	N	0.005836	T	0.33294	0.0858	N	0.04880	-0.145	0.31370	N	0.680319	B;B;B;B;B	0.19331	0.035;0.034;0.002;0.035;0.02	B;B;B;B;B	0.19391	0.012;0.025;0.003;0.018;0.018	T	0.30179	-0.9987	10	0.05833	T	0.94	.	9.2705	0.37668	0.0:0.7866:0.0:0.2134	.	1477;1477;1496;1477;1477	E9PF56;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	K	1477;1477;1477;1496;133;1477	ENSP00000354085:N1477K;ENSP00000297183:N1477K;ENSP00000394489:N1496K;ENSP00000393204:N133K;ENSP00000432016:N1477K	ENSP00000432016:N1477K	N	+	3	2	ANKHD1-EIF4EBP3;ANKHD1	139883948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.049000	0.30392	2.479000	0.83701	0.650000	0.86243	AAC		0.363	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		G	139903764	C	G	139903764	3	3	84	1	0	0	0	0	1	0	0	0	628	477	17	3	4635	3	ANKHD1	5	139903764	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10	128743983	139903764	41011496	17	4382											
PCDHB5	26167	hgsc.bcm.edu	37	5	140517381	140517381	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr5:140517381C>T	ENST00000231134.5	+	1	2582	c.2365C>T	c.(2365-2367)Cgg>Tgg	p.R789W		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	789					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)	p.R789W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCTTCCGGAATAGCTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	5											81	97	91					5																	140517381		2191	4293	6484	140497565	SO:0001583	missense	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2365C>T	5.37:g.140517381C>T	ENSP00000231134:p.Arg789Trp		140497565	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.766120	0.31228	.	.	ENSG00000113209	ENST00000231134	T	0.53423	0.62	4.69	-2.92	0.05615	.	.	.	.	.	T	0.61375	0.2342	M	0.91818	3.245	0.09310	N	1	D	0.65815	0.995	P	0.55455	0.776	T	0.55250	-0.8170	9	0.87932	D	0	.	4.1645	0.10300	0.4754:0.2554:0.1951:0.0741	.	789	Q9Y5E4	PCDB5_HUMAN	W	789	ENSP00000231134:R789W	ENSP00000231134:R789W	R	+	1	2	PCDHB5	140497565	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.415000	0.07106	-0.442000	0.07190	-0.314000	0.08810	CGG		0.473	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		T	140517381	C	T	140517381	3	4	84	1	0	0	0	0	1	0	0	0	11545	643	23	1	2367	1	PCDHB5	5	140517381	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10	613617	140517381	40397879	18	4383											
PCDHGC4	56098	hgsc.bcm.edu	37	5	140866490	140866490	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr5:140866490G>C	ENST00000306593.1	+	1	1750	c.1750G>C	c.(1750-1752)Gtt>Ctt	p.V584L	PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	584	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V584L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCCATCAGTTGGTGCTGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	5											78	74	75					5																	140866490		2203	4300	6503	140846674	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1750G>C	5.37:g.140866490G>C	ENSP00000306918:p.Val584Leu		140846674	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090922	0.36855	.	.	ENSG00000242419	ENST00000306593	T	0.59502	0.26	5.57	4.69	0.59074	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.48786	0.1519	L	0.27053	0.805	0.09310	N	1	B;B	0.34200	0.079;0.441	B;B	0.42995	0.069;0.404	T	0.48547	-0.9026	9	0.72032	D	0.01	.	4.9525	0.14021	0.2029:0.0:0.6361:0.1609	.	584;584	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	L	584	ENSP00000306918:V584L	ENSP00000306918:V584L	V	+	1	0	PCDHGC4	140846674	0.161000	0.22892	0.972000	0.41901	0.989000	0.77384	2.609000	0.46317	1.323000	0.45263	0.591000	0.81541	GTT		0.552	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		C	140866490	G	C	140866490	3	2	84	1	0	0	0	0	1	0	0	0	11570	1029	36	3	1752	3	PCDHGC4	5	140866490	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	349109	140866490	40048770	19	4384											
DPYSL3	1809	hgsc.bcm.edu	37	5	146777313	146777313	+	Silent	SNP	C	C	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr5:146777313C>T	ENST00000398514.3	-	12	1748	c.1377G>A	c.(1375-1377)ctG>ctA	p.L459L	DPYSL3_ENST00000534907.1_Silent_p.L85L|DPYSL3_ENST00000343218.5_Silent_p.L573L	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	459					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.L459L(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCACGTGCAGGTTGCCAT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	5											70	76	74					5																	146777313		2051	4209	6260	146757506	SO:0001819	synonymous_variant	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1377G>A	5.37:g.146777313C>T			146757506	B3SXQ8|Q93012	Silent	SNP	ENST00000398514.3	37	CCDS43381.1																																																																																				0.562	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		T	146777313	C	T	146777313	2	4	84	1	0	0	0	0	0	0	0	1	4748	697	25	2		2	DPYSL3	5	146777313	Silent	SNP	C	TCGA-13-0792-01A-01W-0370-10	5910823	146777313	34137947	20	4385											
PIK3CG	5294	hgsc.bcm.edu	37	7	106509339	106509339	+	Missense_Mutation	SNP	G	G	T	rs150482982		TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr7:106509339G>T	ENST00000359195.3	+	2	1643	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A445S|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A445S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	445	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A445S(1)|p.A445T(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTCCAGCAAGGCCTCTGCAGA	0.522																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	7											64	67	66					7																	106509339		2203	4300	6503	106296575	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1333G>T	7.37:g.106509339G>T	ENSP00000352121:p.Ala445Ser		106296575	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.378511	0.01204	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.75704	-0.96;-0.96;-0.96	5.29	3.48	0.39840	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.512326	0.22051	N	0.065314	T	0.47820	0.1466	N	0.13235	0.315	0.22457	N	0.999082	B	0.06786	0.001	B	0.06405	0.002	T	0.36163	-0.9759	10	0.02654	T	1	-9.294	4.9363	0.13943	0.2482:0.0:0.6032:0.1486	.	445	P48736	PK3CG_HUMAN	S	445	ENSP00000392258:A445S;ENSP00000419260:A445S;ENSP00000352121:A445S	ENSP00000352121:A445S	A	+	1	0	PIK3CG	106296575	0.988000	0.35896	0.659000	0.29680	0.100000	0.18952	1.722000	0.38042	0.620000	0.30215	0.655000	0.94253	GCC		0.522	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106509339	G	T	106509339	3	4	84	1	0	0	0	0	1	0	0	0	11916	1203	42	3	1335	3	PIK3CG	7	106509339	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10		106509339	52629324	21	4386											
VIPR2	7434	hgsc.bcm.edu	37	7	158935206	158935206	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr7:158935206T>A	ENST00000262178.2	-	2	268	c.83A>T	c.(82-84)cAt>cTt	p.H28L	VIPR2_ENST00000421760.2_Missense_Mutation_p.H28L|VIPR2_ENST00000402066.1_Missense_Mutation_p.H169L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	28					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.H28L(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TATTTCCAGATGAAATCGGCA	0.388																																					Pancreas(154;1876 1931 2329 17914 20079)											1	Substitution - Missense(1)	ovary(1)	7											193	182	186					7																	158935206		2203	4298	6501	158627967	SO:0001583	missense	7434			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.83A>T	7.37:g.158935206T>A	ENSP00000262178:p.His28Leu		158627967	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	CCDS5950.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.538|8.538	0.872562|0.872562	0.17322|0.17322	.|.	.|.	ENSG00000106018|ENSG00000106018	ENST00000262178;ENST00000402066;ENST00000421760|ENST00000418475	T;T;T|.	0.51071|.	0.85;0.85;0.72|.	5.09|5.09	3.94|3.94	0.45596|0.45596	.|.	0.000000|.	0.50627|.	D|.	0.000120|.	T|T	0.51924|0.51924	0.1703|0.1703	L|L	0.41079|0.41079	1.255|1.255	0.44275|0.44275	D|D	0.997131|0.997131	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.43343|0.43343	-0.9397|-0.9397	9|5	.|.	.|.	.|.	.|.	7.4608|7.4608	0.27294|0.27294	0.0:0.0988:0.0:0.9012|0.0:0.0988:0.0:0.9012	.|.	28|.	P41587|.	VIPR2_HUMAN|.	L|F	28;169;28|23	ENSP00000262178:H28L;ENSP00000384497:H169L;ENSP00000402690:H28L|.	.|.	H|I	-|-	2|1	0|0	VIPR2|VIPR2	158627967|158627967	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.991000|0.991000	0.79684|0.79684	3.463000|3.463000	0.53050|0.53050	0.906000|0.906000	0.36621|0.36621	0.482000|0.482000	0.46254|0.46254	CAT|ATC		0.388	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		A	158935206	T	A	158935206	3	1	84	1	0	0	0	0	1	0	0	0	17170	1464	51	5	1281	5	VIPR2	7	158935206	Missense_Mutation	SNP	T	TCGA-13-0792-01A-01W-0370-10	52425867	158935206	203457	22	4387											
PRKDC	5591	hgsc.bcm.edu	37	8	48772284	48772284	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr8:48772284G>A	ENST00000314191.2	-	47	6148	c.6092C>T	c.(6091-6093)gCa>gTa	p.A2031V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A2031V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2032					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.A2031V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGTACTGTCTGCCAAATATGA	0.388								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											1	Substitution - Missense(1)	ovary(1)	8											68	65	66					8																	48772284		1849	4102	5951	48934837	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6092C>T	8.37:g.48772284G>A	ENSP00000313420:p.Ala2031Val		48934837	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	14.42	2.531578	0.45073	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.27256	1.68;1.68	5.9	1.93	0.25924	NUC194 (1);Armadillo-type fold (1);	0.459334	0.23296	N	0.049733	T	0.24431	0.0592	L	0.52759	1.655	0.29878	N	0.826258	B;B	0.33044	0.395;0.234	B;B	0.39771	0.309;0.178	T	0.15122	-1.0448	10	0.49607	T	0.09	.	5.8897	0.18904	0.0729:0.1411:0.5732:0.2128	.	2031;2032	E7EUY0;P78527	.;PRKDC_HUMAN	V	2031	ENSP00000313420:A2031V;ENSP00000345182:A2031V	ENSP00000313420:A2031V	A	-	2	0	PRKDC	48934837	1.000000	0.71417	0.109000	0.21407	0.841000	0.47740	2.945000	0.49043	0.073000	0.16731	0.561000	0.74099	GCA		0.388	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		A	48772284	G	A	48772284	3	1	84	1	0	0	0	0	1	0	0	0	12524	1319	46	2	6455	2	PRKDC	8	48772284	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10		48772284	97591738	23	4388											
EYA1	2138	hgsc.bcm.edu	37	8	72128997	72128997	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr8:72128997C>A	ENST00000340726.3	-	14	1929	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	EYA1_ENST00000388742.4_Missense_Mutation_p.W430C|EYA1_ENST00000303824.7_Missense_Mutation_p.W424C|EYA1_ENST00000388743.2_Missense_Mutation_p.W429C|EYA1_ENST00000388740.3_Missense_Mutation_p.W397C|EYA1_ENST00000419131.1_Missense_Mutation_p.W395C|EYA1_ENST00000388741.2_Missense_Mutation_p.W396C	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	430					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.W430C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACTTTCTCATCCAGTCCACAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	8											182	159	167					8																	72128997		2203	4300	6503	72291551	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1290G>T	8.37:g.72128997C>A	ENSP00000342626:p.Trp430Cys		72291551	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193460	0.78902	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.44	5.44	0.79542	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	M	0.83312	2.635	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.949;0.99;0.99;0.949;0.995	D	0.92498	0.6006	10	0.87932	D	0	-6.5452	19.4568	0.94895	0.0:1.0:0.0:0.0	.	424;357;397;430;395	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	C	430;430;398;397;424;396;429;395	ENSP00000373394:W430C;ENSP00000342626:W430C;ENSP00000373392:W397C;ENSP00000303221:W424C;ENSP00000373393:W396C;ENSP00000373395:W429C;ENSP00000410176:W395C	ENSP00000303221:W424C	W	-	3	0	EYA1	72291551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.604000	0.82830	2.832000	0.97577	0.655000	0.94253	TGG		0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		A	72128997	C	A	72128997	3	1	84	1	0	0	0	0	1	0	0	0	5328	856	30	3	508	3	EYA1	8	72128997	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10	23356713	72128997	74235025	24	4389											
CDH17	1015	hgsc.bcm.edu	37	8	95206875	95206875	+	Silent	SNP	A	A	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr8:95206875A>T	ENST00000027335.3	-	2	163	c.39T>A	c.(37-39)ctT>ctA	p.L13L	CDH17_ENST00000450165.2_Silent_p.L13L|CDH17_ENST00000441892.2_Silent_p.L13L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	13					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.L13L(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AATAAAGCATAAGAAGACACA	0.368																																																1	Substitution - coding silent(1)	ovary(1)	8											112	105	107					8																	95206875		2203	4300	6503	95276051	SO:0001819	synonymous_variant	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.39T>A	8.37:g.95206875A>T			95276051	Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	CCDS6260.1																																																																																				0.368	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		T	95206875	A	T	95206875	2	4	84	1	0	0	0	0	0	0	0	1	3102	349	13	5		5	CDH17	8	95206875	Silent	SNP	A	TCGA-13-0792-01A-01W-0370-10	23077878	95206875	51157147	25	4390											
CENPP	401541	hgsc.bcm.edu	37	9	95142143	95142143	+	Splice_Site	SNP	T	T	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr9:95142143T>A	ENST00000375587.3	+	5	1079		c.e5+2			NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P						CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CATCTCAAGGTAAAGTCTGAA	0.338																																																1	Unknown(1)	ovary(1)	9											118	116	117					9																	95142143		2203	4300	6503	94181964	SO:0001630	splice_region_variant	401541			AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.564+2T>A	9.37:g.95142143T>A			94181964	B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Splice_Site	SNP	ENST00000375587.3	37	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321613	0.60634	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8734	0.70478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CENPP	94181964	1.000000	0.71417	0.994000	0.49952	0.579000	0.36224	6.083000	0.71326	1.980000	0.57719	0.460000	0.39030	.		0.338	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267	Intron	A	95142143	T	A	95142143	5	1	84	1	0	0	0	0	0	0	1	0	3240	1652	57	5	584	5	CENPP	9	95142143	Splice_Site	SNP	T	TCGA-13-0792-01A-01W-0370-10		95142143	46071288	26	4391											
GOLGA1	2800	hgsc.bcm.edu	37	9	127644214	127644214	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr9:127644214T>C	ENST00000373555.4	-	21	2318	c.1985A>G	c.(1984-1986)gAg>gGg	p.E662G		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	662					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.E662G(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTCGAAGAGCTCATTATCGGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	9											110	107	108					9																	127644214		2203	4300	6503	126684035	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1985A>G	9.37:g.127644214T>C	ENSP00000362656:p.Glu662Gly		126684035	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937736	0.73557	.	.	ENSG00000136935	ENST00000373555	T	0.27104	1.69	5.81	5.81	0.92471	.	0.142200	0.31747	N	0.007140	T	0.29190	0.0726	L	0.46157	1.445	0.58432	D	0.999997	P	0.46395	0.877	B	0.43360	0.417	T	0.03473	-1.1033	10	0.66056	D	0.02	-19.6737	15.333	0.74229	0.0:0.0:0.0:1.0	.	662	Q92805	GOGA1_HUMAN	G	662	ENSP00000362656:E662G	ENSP00000362656:E662G	E	-	2	0	GOLGA1	126684035	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.476000	0.66793	2.216000	0.71823	0.533000	0.62120	GAG		0.507	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		C	127644214	T	C	127644214	3	2	84	1	0	0	0	0	1	0	0	0	6551	1551	54	4	330	4	GOLGA1	9	127644214	Missense_Mutation	SNP	T	TCGA-13-0792-01A-01W-0370-10	32502071	127644214	13569217	27	4392											
PFKP	5214	hgsc.bcm.edu	37	10	3178690	3178690	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr10:3178690G>A	ENST00000381125.4	+	22	2350	c.2274G>A	c.(2272-2274)atG>atA	p.M758I	PFKP_ENST00000381075.2_Missense_Mutation_p.M750I|PFKP_ENST00000381072.1_Missense_Mutation_p.M176I|PITRM1_ENST00000464395.1_5'Flank	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	758	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.M758I(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGCCCCTCATGAAAATCCTGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	10											58	47	50					10																	3178690		2203	4300	6503	3168690	SO:0001583	missense	5214			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2274G>A	10.37:g.3178690G>A	ENSP00000370517:p.Met758Ile		3168690	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	16.40	3.111715	0.56398	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.79653	-1.29;-1.29;-1.29	5.14	5.14	0.70334	Phosphofructokinase domain (1);	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	M	0.76574	2.34	0.54753	D	0.999986	P;P;B	0.38582	0.638;0.638;0.382	B;B;B	0.36666	0.23;0.23;0.146	D	0.84657	0.0704	10	0.72032	D	0.01	.	18.6308	0.91359	0.0:0.0:1.0:0.0	.	750;750;758	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	I	758;747;750;176	ENSP00000370517:M758I;ENSP00000370465:M750I;ENSP00000370462:M176I	ENSP00000370462:M176I	M	+	3	0	PFKP	3168690	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.470000	0.80973	2.396000	0.81511	0.462000	0.41574	ATG		0.582	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		A	3178690	G	A	3178690	3	1	84	1	0	0	0	0	1	0	0	0	11766	1290	45	2	2360	2	PFKP	10	3178690	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10		3178690	132356057	28	4393											
BAMBI	25805	hgsc.bcm.edu	37	10	28971114	28971114	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr10:28971114G>C	ENST00000375533.3	+	3	1123	c.567G>C	c.(565-567)caG>caC	p.Q189H		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	189					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)	p.Q189H(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGCGGCAACAGATGCTCTCCC	0.517																																																1	Substitution - Missense(1)	ovary(1)	10											120	105	110					10																	28971114		2203	4300	6503	29011120	SO:0001583	missense	25805			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.567G>C	10.37:g.28971114G>C	ENSP00000364683:p.Gln189His		29011120		Missense_Mutation	SNP	ENST00000375533.3	37	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353122	0.61293	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.86	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.47716	1.5	0.58432	D	0.999998	D	0.54397	0.966	P	0.50440	0.641	T	0.53121	-0.8483	9	0.72032	D	0.01	.	8.7925	0.34859	0.2811:0.0:0.7189:0.0	.	189	Q13145	BAMBI_HUMAN	H	189;176	.	ENSP00000364683:Q189H	Q	+	3	2	BAMBI	29011120	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.456000	0.66665	0.825000	0.34637	0.655000	0.94253	CAG		0.517	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		C	28971114	G	C	28971114	3	2	84	1	0	0	0	0	1	0	0	0	1306	933	33	3	577	3	BAMBI	10	28971114	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	25792424	28971114	106563633	29	4394											
LIPK	643414	hgsc.bcm.edu	37	10	90492016	90492016	+	Silent	SNP	C	C	T	rs377155159		TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr10:90492016C>T	ENST00000404190.1	+	4	504	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	168					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.Y168Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		GACTCTACTACGTGGGCCACT	0.428																																																1	Substitution - coding silent(1)	ovary(1)	10						C		0,4016		0,0,2008	106	110	109		504	-7.2	0.8	10		109	1,8493		0,1,4246	no	coding-synonymous	LIPK	NM_001080518.1		0,1,6254	TT,TC,CC		0.0118,0.0,0.0080		168/400	90492016	1,12509	2008	4247	6255	90481996	SO:0001819	synonymous_variant	643414				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.504C>T	10.37:g.90492016C>T			90481996	A7KIH8	Silent	SNP	ENST00000404190.1	37	CCDS44455.1																																																																																				0.428	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		T	90492016	C	T	90492016	2	4	84	1	0	0	0	0	0	0	0	1	8827	547	19	1		1	LIPK	10	90492016	Silent	SNP	C	TCGA-13-0792-01A-01W-0370-10	61520902	90492016	45042731	30	4395											
DCHS1	8642	hgsc.bcm.edu	37	11	6661596	6661596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr11:6661596delG	ENST00000299441.3	-	2	1660	c.1249delC	c.(1249-1251)caafs	p.Q417fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	417	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q417fs*24(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCTGTCTTGGGTGCTTAGG	0.562																																																1	Deletion - Frameshift(1)	ovary(1)	11											53	48	50					11																	6661596		2201	4296	6497	6618172	SO:0001589	frameshift_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1249delC	11.37:g.6661596delG	ENSP00000299441:p.Gln417fs		6618172	O15098	Frame_Shift_Del	DEL	ENST00000299441.3	37	CCDS7771.1																																																																																				0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		-	6661596	G	-	6661596	7	5	84	1	0	1	0	1	0	0	0	0	4287	1357	47	0	8727	0	DCHS1	11	6661596	Frame_Shift_Del	DEL	G	TCGA-13-0792-01A-01W-0370-10		6661596	128344920	31	4396											
SCUBE2	57758	hgsc.bcm.edu	37	11	9055246	9055246	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr11:9055246A>C	ENST00000309263.3	-	16	2085	c.2013T>G	c.(2011-2013)tgT>tgG	p.C671W	SCUBE2_ENST00000520467.1_Intron|SCUBE2_ENST00000457346.2_Missense_Mutation_p.C700W|SCUBE2_ENST00000450649.2_Missense_Mutation_p.C545W|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	671						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.C671W(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGCATGGTTCACAAGTCATTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	11											186	178	181					11																	9055246		2201	4296	6497	9011822	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2013T>G	11.37:g.9055246A>C	ENSP00000310658:p.Cys671Trp		9011822	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	A	17.24	3.338212	0.60963	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649	D;D;D	0.86956	-2.19;-2.19;-2.19	5.68	-0.729	0.11158	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92849	0.6295	10	0.87932	D	0	.	10.9371	0.47251	0.5731:0.0:0.4269:0.0	.	545;671	Q9NQ36-3;Q9NQ36	.;SCUB2_HUMAN	W	700;671;545	ENSP00000390481:C700W;ENSP00000310658:C671W;ENSP00000415187:C545W	ENSP00000310658:C671W	C	-	3	2	SCUBE2	9011822	1.000000	0.71417	0.950000	0.38849	0.905000	0.53344	1.337000	0.33862	-0.385000	0.07833	0.533000	0.62120	TGT		0.478	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		C	9055246	A	C	9055246	3	2	84	1	0	0	0	0	1	0	0	0	13948	157	6	5	1014	5	SCUBE2	11	9055246	Missense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10	2393650	9055246	125951270	32	4397											
PHF21A	51317	hgsc.bcm.edu	37	11	45967431	45967431	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr11:45967431G>T	ENST00000418153.2	-	14	1608	c.1409C>A	c.(1408-1410)cCt>cAt	p.P470H	PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000323180.6_Intron|PHF21A_ENST00000257821.4_Missense_Mutation_p.P471H			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	470					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AGGCTGAACAGGTGCAGGGAA	0.512																																																0			11											95	114	107					11																	45967431		2160	4267	6427	45924007	SO:0001583	missense	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1409C>A	11.37:g.45967431G>T	ENSP00000398824:p.Pro470His		45924007	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224285	0.58668	.	.	ENSG00000135365	ENST00000257821;ENST00000418153	D;D	0.92965	-3.14;-3.14	5.94	5.94	0.96194	.	0.292000	0.39615	N	0.001304	D	0.87188	0.6115	N	0.08118	0	0.34741	D	0.730812	B;P	0.41848	0.027;0.763	B;P	0.46479	0.01;0.518	D	0.90478	0.4458	10	0.42905	T	0.14	-0.4547	15.81	0.78552	0.0:0.1352:0.8648:0.0	.	470;471	Q96BD5;Q96BD5-3	PF21A_HUMAN;.	H	471;470	ENSP00000257821:P471H;ENSP00000398824:P470H	ENSP00000257821:P471H	P	-	2	0	PHF21A	45924007	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.161000	0.77505	2.820000	0.97059	0.650000	0.86243	CCT		0.512	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		T	45967431	G	T	45967431	3	4	84	1	0	0	0	0	1	0	0	0	11833	1000	35	3	653	3	PHF21A	11	45967431	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	36912185	45967431	89039085	33	4398											
SLC22A10	387775	hgsc.bcm.edu	37	11	63064806	63064806	+	Silent	SNP	T	T	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr11:63064806T>C	ENST00000332793.6	+	3	540	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Silent_p.L25L	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	180						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L180L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CAGATGGTGTTTGCTCCAGCT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	11											170	170	170					11																	63064806		2074	4240	6314	62821382	SO:0001819	synonymous_variant	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.538T>C	11.37:g.63064806T>C			62821382	Q68CJ0	Silent	SNP	ENST00000332793.6	37	CCDS41661.1																																																																																				0.418	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		C	63064806	T	C	63064806	2	2	84	1	0	0	0	0	0	0	0	1	14444	1838	64	4		4	SLC22A10	11	63064806	Silent	SNP	T	TCGA-13-0792-01A-01W-0370-10	17097375	63064806	71941710	34	4399											
PYGM	5837	hgsc.bcm.edu	37	11	64522773	64522773	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr11:64522773A>G	ENST00000164139.3	-	7	1225	c.827T>C	c.(826-828)aTc>aCc	p.I276T	PYGM_ENST00000377432.3_Missense_Mutation_p.I188T	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	276					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.I276T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GACACGAGAGATGTTCTCCGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											125	121	123					11																	64522773		2201	4296	6497	64279349	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.827T>C	11.37:g.64522773A>G	ENSP00000164139:p.Ile276Thr		64279349	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638176	0.87760	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.95821	-3.48;-3.82	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000007	D	0.98607	0.9534	H	0.98155	4.16	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.97110	0.998;1.0	D	0.99552	1.0966	10	0.87932	D	0	-26.458	13.7929	0.63152	1.0:0.0:0.0:0.0	.	188;276	A6NDY6;P11217	.;PYGM_HUMAN	T	188;276;257	ENSP00000366650:I188T;ENSP00000164139:I276T	ENSP00000164139:I276T	I	-	2	0	PYGM	64279349	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.339000	0.96797	2.153000	0.67306	0.533000	0.62120	ATC		0.612	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		G	64522773	A	G	64522773	3	3	84	1	0	0	0	0	1	0	0	0	12865	333	12	4	1757	4	PYGM	11	64522773	Missense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10	1457967	64522773	70483743	35	4400											
ZDHHC24	254359	hgsc.bcm.edu	37	11	66311275	66311275	+	Silent	SNP	G	G	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr11:66311275G>T	ENST00000310442.3	-	2	693	c.459C>A	c.(457-459)gtC>gtA	p.V153V	ZDHHC24_ENST00000526986.1_Silent_p.V153V|ACTN3_ENST00000502692.1_RNA|ZDHHC24_ENST00000525925.1_5'UTR	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	153	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V153V(1)		endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GCAGCACAGAGACGTGGAGCA	0.692											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	11											34	35	35					11																	66311275		2195	4292	6487	66067851	SO:0001819	synonymous_variant	254359			BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.459C>A	11.37:g.66311275G>T		1090	66067851	Q6PEW7|Q9BSJ0	Silent	SNP	ENST00000310442.3	37	CCDS8143.1																																																																																				0.692	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		T	66311275	G	T	66311275	2	4	84	1	0	0	0	0	0	0	0	1	17615	929	33	3		3	ZDHHC24	11	66311275	Silent	SNP	G	TCGA-13-0792-01A-01W-0370-10	1788502	66311275	68695241	36	4401											
C11orf30	56946	hgsc.bcm.edu	37	11	76174958	76174958	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr11:76174958A>T	ENST00000529032.1	+	6	665	c.665A>T	c.(664-666)aAg>aTg	p.K222M	C11orf30_ENST00000343878.3_Missense_Mutation_p.K222M|C11orf30_ENST00000533248.1_Missense_Mutation_p.K236M|C11orf30_ENST00000525919.1_Missense_Mutation_p.K223M|C11orf30_ENST00000524767.1_Missense_Mutation_p.K237M|C11orf30_ENST00000524490.1_Missense_Mutation_p.K223M|C11orf30_ENST00000334736.3_Missense_Mutation_p.K222M|C11orf30_ENST00000525038.1_Missense_Mutation_p.K237M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	222	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K222M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAAGTTCCAAAGGCCGTTGTT	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											184	182	183					11																	76174958		2200	4292	6492	75852606	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.665A>T	11.37:g.76174958A>T	ENSP00000432327:p.Lys222Met		75852606	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.452871	0.63290	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.62	4.5	0.54988	.	0.044831	0.85682	D	0.000000	T	0.49966	0.1588	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.996;0.998;0.998;0.999;1.0;0.998;0.998;0.998	P;P;P;D;D;D;P;D	0.77557	0.819;0.888;0.888;0.99;0.964;0.977;0.888;0.977	T	0.47971	-0.9075	10	0.51188	T	0.08	-4.0501	11.2765	0.49170	0.929:0.0:0.071:0.0	.	236;237;237;222;172;223;223;222	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;.;EMSY_HUMAN	M	223;222;222;172;237;236;223;237;222	ENSP00000431166:K223M;ENSP00000334130:K222M;ENSP00000344688:K222M;ENSP00000433205:K237M;ENSP00000433634:K236M;ENSP00000432010:K223M;ENSP00000436968:K237M;ENSP00000432327:K222M	ENSP00000334130:K222M	K	+	2	0	C11orf30	75852606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.173000	0.77612	0.972000	0.38314	0.460000	0.39030	AAG		0.483	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		T	76174958	A	T	76174958	3	4	84	1	0	0	0	0	1	0	0	0	1636	72	3	5	687	5	C11orf30	11	76174958	Missense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10	9863683	76174958	58831558	37	4402											
TMEM136	219902	hgsc.bcm.edu	37	11	120198134	120198134	+	Intron	SNP	G	G	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr11:120198134G>A	ENST00000375095.2	+	2	240				TMEM136_ENST00000314475.2_Nonsense_Mutation_p.W17*|TMEM136_ENST00000531346.1_Intron|TMEM136_ENST00000529187.1_Nonsense_Mutation_p.W17*	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136							integral component of membrane (GO:0016021)		p.W17*(1)		endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		TTCTGGTTTTGGTCTTTTCAT	0.413																																																1	Substitution - Nonsense(1)	ovary(1)	11											178	165	169					11																	120198134		2203	4299	6502	119703344	SO:0001627	intron_variant	219902			BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.-1-16G>A	11.37:g.120198134G>A			119703344	B4DGQ4|B4E230|Q8IZ79	Nonsense_Mutation	SNP	ENST00000375095.2	37	CCDS55793.1	.	.	.	.	.	.	.	.	.	.	G	37	6.011973	0.97200	.	.	ENSG00000181264	ENST00000314475;ENST00000529187	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7709	0.29008	0.0808:0.0:0.7133:0.2059	.	.	.	.	X	17	.	ENSP00000312672:W17X	W	+	2	0	TMEM136	119703344	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	2.756000	0.47549	2.629000	0.89072	0.655000	0.94253	TGG		0.413	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		A	120198134	G	A	120198134	1	1	84	0	1	0	0	0	0	0	0	0	16052	1357	47	2		2	TMEM136	11	120198134	Intron	SNP	G	TCGA-13-0792-01A-01W-0370-10	44023176	120198134	14808382	38	4403											
PHC1	1911	hgsc.bcm.edu	37	12	9073656	9073656	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr12:9073656G>A	ENST00000543824.1	+	5	633	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	PHC1_ENST00000544916.1_Missense_Mutation_p.A101T|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433083.2_Missense_Mutation_p.A64T|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	101					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A101T(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CACCACCCAGGCCTCGGTGAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											81	82	81					12																	9073656		2203	4300	6503	8964923	SO:0001583	missense	1911			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.301G>A	12.37:g.9073656G>A	ENSP00000440674:p.Ala101Thr		8964923	D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726086	0.69074	.	.	ENSG00000111752	ENST00000538657;ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000544539;ENST00000539063;ENST00000541181	T;T;T;T	0.22945	1.94;1.94;1.93;1.94	5.59	5.59	0.84812	.	0.084314	0.49916	D	0.000123	T	0.29882	0.0747	N	0.05441	-0.05	0.80722	D	1	D;P;P	0.61697	0.99;0.684;0.684	P;B;B	0.60682	0.878;0.365;0.365	T	0.24119	-1.0169	10	0.37606	T	0.19	-4.083	19.1944	0.93681	0.0:0.0:1.0:0.0	.	101;101;101	B4DF21;P78364;B2RXH1	.;PHC1_HUMAN;.	T	101;101;101;64;101;101;101;118	ENSP00000440674:A101T;ENSP00000251757:A101T;ENSP00000399194:A64T;ENSP00000437659:A101T	ENSP00000251757:A101T	A	+	1	0	PHC1	8964923	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	2.843000	0.48238	2.628000	0.89032	0.655000	0.94253	GCC		0.532	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		A	9073656	G	A	9073656	3	1	84	1	0	0	0	0	1	0	0	0	11816	1203	42	2	311	2	PHC1	12	9073656	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10		9073656	124778239	39	4404											
SFRS2IP	9169	hgsc.bcm.edu	37	12	46342315	46342315	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr12:46342315T>A	ENST00000369367.3	-	5	536	c.303A>T	c.(301-303)caA>caT	p.Q101H	SCAF11_ENST00000419565.2_Missense_Mutation_p.Q101H	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	101					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q101H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTTTTTTTACTTGAACCTATG	0.294																																																1	Substitution - Missense(1)	ovary(1)	12											118	101	106					12																	46342315		1796	4065	5861	44628582	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.303A>T	12.37:g.46342315T>A	ENSP00000358374:p.Gln101His		44628582	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	15.63	2.890830	0.52014	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000547018;ENST00000266589	T;T;T;T	0.48201	0.94;0.94;0.94;0.82	5.76	-1.39	0.08997	.	0.160620	0.28933	U	0.013678	T	0.29028	0.0721	L	0.34521	1.04	0.29124	N	0.880066	B	0.16396	0.017	B	0.12837	0.008	T	0.11251	-1.0595	10	0.54805	T	0.06	-5.8712	4.8467	0.13517	0.0:0.24:0.2818:0.4782	.	101	Q99590	SCAFB_HUMAN	H	101;101;41;117	ENSP00000358374:Q101H;ENSP00000413036:Q101H;ENSP00000446746:Q41H;ENSP00000266589:Q117H	ENSP00000266589:Q117H	Q	-	3	2	SCAF11	44628582	0.997000	0.39634	0.991000	0.47740	0.787000	0.44495	0.118000	0.15605	0.083000	0.17047	0.460000	0.39030	CAA		0.294	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		A	46342315	T	A	46342315	3	1	84	1	0	0	0	0	1	0	0	0	14180	1606	56	5	4132	5	SFRS2IP	12	46342315	Missense_Mutation	SNP	T	TCGA-13-0792-01A-01W-0370-10	37268659	46342315	87509580	40	4405											
BRCA2	675	hgsc.bcm.edu	37	13	32911921	32911921	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr13:32911921A>T	ENST00000380152.3	+	11	3662	c.3429A>T	c.(3427-3429)gaA>gaT	p.E1143D	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1143D			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1143					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E1143D(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTACATTTGAAGTGCCTGAAA	0.368			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	1	Substitution - Missense(1)	ovary(1)	13											80	79	79					13																	32911921		2203	4300	6503	31809921	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3429A>T	13.37:g.32911921A>T	ENSP00000369497:p.Glu1143Asp		31809921	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	5.437	0.265709	0.10294	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00760	5.73;5.73	5.75	0.0634	0.14348	.	0.605390	0.16331	N	0.219108	T	0.00815	0.0027	L	0.59436	1.845	0.09310	N	1	B	0.19200	0.034	B	0.18263	0.021	T	0.48163	-0.9059	10	0.27785	T	0.31	.	0.9609	0.01395	0.4732:0.1133:0.1947:0.2188	.	1143	P51587	BRCA2_HUMAN	D	1143	ENSP00000369497:E1143D;ENSP00000439902:E1143D	ENSP00000369497:E1143D	E	+	3	2	BRCA2	31809921	0.081000	0.21417	0.005000	0.12908	0.130000	0.20726	0.702000	0.25631	0.089000	0.17243	-0.336000	0.08194	GAA		0.368	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		T	32911921	A	T	32911921	3	4	84	1	0	0	0	0	1	0	0	0	1499	69	3	5	3467	5	BRCA2	13	32911921	Missense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10		32911921	82257957	41	4406											
CHMP4A	29082	hgsc.bcm.edu	37	14	24679121	24679121	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr14:24679121C>T	ENST00000609024.1	-	6	679	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_Missense_Mutation_p.E254K|CHMP4A_ENST00000530996.1_Missense_Mutation_p.E106K|TM9SF1_ENST00000556387.1_Intron|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Intron			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	211	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.E254K(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		AGTGCTTCTTCATCTTCATCC	0.453																																																1	Substitution - Missense(1)	ovary(1)	14											231	199	210					14																	24679121		2203	4300	6503	23748961	SO:0001583	missense	29082			AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"Charged multivesicular body proteins"	20274	protein-coding gene	gene with protein product		610051	"chromosome 14 open reading frame 123", "chromatin modifying protein 4A"	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.631G>A	14.37:g.24679121C>T	ENSP00000476412:p.Glu211Lys		23748961	Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37		.	.	.	.	.	.	.	.	.	.	C	14.55	2.569070	0.45798	.	.	ENSG00000254505	ENST00000347519	T	0.61627	0.09	4.24	2.33	0.28932	.	1.004860	0.08018	N	0.991581	T	0.45377	0.1339	L	0.28400	0.85	0.23776	N	0.996879	B	0.30584	0.286	B	0.32677	0.15	T	0.42531	-0.9446	10	0.56958	D	0.05	0.6511	6.0941	0.20010	0.0:0.7065:0.1894:0.1041	.	254	Q14D22	.	K	254	ENSP00000324205:E254K	ENSP00000324205:E254K	E	-	1	0	AL096870.1	23748961	0.000000	0.05858	0.711000	0.30485	0.994000	0.84299	0.123000	0.15708	0.683000	0.31428	0.561000	0.74099	GAA		0.453	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		T	24679121	C	T	24679121	3	4	84	1	0	0	0	0	1	0	0	0	3356	835	29	2	41	2	CHMP4A	14	24679121	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10		24679121	82670419	42	4407											
SERPINA4	5267	hgsc.bcm.edu	37	14	95030260	95030260	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr14:95030260C>A	ENST00000557004.1	+	2	862	c.441C>A	c.(439-441)caC>caA	p.H147Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.H147Q|SERPINA4_ENST00000298841.5_Missense_Mutation_p.H147Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	147					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H147Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCCTGAGCCACAACCTGAAGT	0.552																																																1	Substitution - Missense(1)	ovary(1)	14											139	123	128					14																	95030260		2203	4300	6503	94100013	SO:0001583	missense	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.441C>A	14.37:g.95030260C>A	ENSP00000450838:p.His147Gln		94100013	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	C	1.098	-0.662082	0.03454	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	T;T;T	0.81415	-1.49;-1.49;-1.49	4.3	-4.79	0.03200	Serpin domain (3);	0.690715	0.12579	N	0.456604	T	0.39200	0.1069	N	0.00493	-1.44	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.06405	0.001;0.002	T	0.42258	-0.9462	10	0.31617	T	0.26	.	0.6596	0.00840	0.3423:0.1076:0.2424:0.3076	.	147;147	B2R815;P29622	.;KAIN_HUMAN	Q	147	ENSP00000450838:H147Q;ENSP00000451172:H147Q;ENSP00000298841:H147Q	ENSP00000298841:H147Q	H	+	3	2	SERPINA4	94100013	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.006000	0.00160	-0.873000	0.04032	-1.087000	0.02190	CAC		0.552	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		A	95030260	C	A	95030260	3	1	84	1	0	0	0	0	1	0	0	0	14094	477	17	3	443	3	SERPINA4	14	95030260	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10	70351139	95030260	12319280	43	4408											
SERPINA4	5267	hgsc.bcm.edu	37	14	95030398	95030398	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr14:95030398G>C	ENST00000557004.1	+	2	1000	c.579G>C	c.(577-579)aaG>aaC	p.K193N	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.K193N|SERPINA4_ENST00000298841.5_Missense_Mutation_p.K193N			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	193					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K193N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTCGAGGGAAGATTGTGGATT	0.453																																																1	Substitution - Missense(1)	ovary(1)	14											169	159	162					14																	95030398		2203	4300	6503	94100151	SO:0001583	missense	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.579G>C	14.37:g.95030398G>C	ENSP00000450838:p.Lys193Asn		94100151	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953242	0.53293	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.86627	-2.15;-2.15;-2.15	4.41	1.52	0.23074	Serpin domain (3);	0.097010	0.42053	D	0.000765	D	0.92577	0.7642	M	0.90198	3.095	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.69142	0.893;0.962	D	0.90816	0.4705	10	0.87932	D	0	.	7.0883	0.25270	0.4645:0.0:0.5355:0.0	.	193;193	B2R815;P29622	.;KAIN_HUMAN	N	193	ENSP00000450838:K193N;ENSP00000451172:K193N;ENSP00000298841:K193N	ENSP00000298841:K193N	K	+	3	2	SERPINA4	94100151	0.906000	0.30813	0.822000	0.32727	0.107000	0.19398	-0.023000	0.12456	0.431000	0.26258	-0.137000	0.14449	AAG		0.453	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		C	95030398	G	C	95030398	3	2	84	1	0	0	0	0	1	0	0	0	14094	933	33	3	581	3	SERPINA4	14	95030398	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	138	95030398	12319142	44	4409											
FSIP1	161835	hgsc.bcm.edu	37	15	39910272	39910272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr15:39910272C>A	ENST00000350221.3	-	11	1572	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	455								p.E455*(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GTTTCTGATTCATTTAGCAAT	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	15											121	115	117					15																	39910272		2200	4297	6497	37697564	SO:0001587	stop_gained	161835			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1363G>T	15.37:g.39910272C>A	ENSP00000280236:p.Glu455*		37697564	Q6X2C8|Q86Y89	Nonsense_Mutation	SNP	ENST00000350221.3	37	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335268	0.60853	.	.	ENSG00000150667	ENST00000350221	.	.	.	4.94	0.917	0.19380	.	1.257900	0.05641	N	0.583369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0845	5.2901	0.15721	0.1416:0.6331:0.0:0.2253	.	.	.	.	X	455	.	.	E	-	1	0	FSIP1	37697564	0.001000	0.12720	0.000000	0.03702	0.057000	0.15508	0.942000	0.29017	0.087000	0.17167	0.655000	0.94253	GAA		0.393	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		A	39910272	C	A	39910272	4	1	84	1	0	0	0	0	0	1	0	0	6074	835	29	3	390	3	FSIP1	15	39910272	Nonsense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10		39910272	62621120	45	4410											
THAP10	56906	hgsc.bcm.edu	37	15	71174913	71174913	+	Silent	SNP	T	T	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr15:71174913T>C	ENST00000249861.4	-	3	1166	c.654A>G	c.(652-654)agA>agG	p.R218R	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	218							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R218R(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAGAGGAAGTTCTAGACCACA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	15											162	155	157					15																	71174913		2199	4297	6496	68961967	SO:0001819	synonymous_variant	56906			AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"THAP (C2CH-type zinc finger) domain containing"	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.654A>G	15.37:g.71174913T>C			68961967	B2R8R0	Silent	SNP	ENST00000249861.4	37	CCDS10237.1																																																																																				0.393	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		C	71174913	T	C	71174913	2	2	84	1	0	0	0	0	0	0	0	1	15842	1780	62	4		4	THAP10	15	71174913	Silent	SNP	T	TCGA-13-0792-01A-01W-0370-10	31264641	71174913	31356479	46	4411											
AP3B2	8120	hgsc.bcm.edu	37	15	83333172	83333172	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr15:83333172C>A	ENST00000261722.3	-	18	2358	c.2151G>T	c.(2149-2151)gaG>gaT	p.E717D	AP3B2_ENST00000535348.1_Missense_Mutation_p.E685D|AP3B2_ENST00000535359.1_Missense_Mutation_p.E736D|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	717	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.E716D(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CATTGTCGGACTCACTGCTGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	15											103	113	110					15																	83333172		2064	4205	6269	81130227	SO:0001583	missense	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2151G>T	15.37:g.83333172C>A	ENSP00000261722:p.Glu717Asp		81130227	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.492959	0.44352	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.19669	2.13;2.13;2.13	5.48	3.53	0.40419	.	0.280055	0.39687	N	0.001281	T	0.12135	0.0295	N	0.20986	0.625	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.11108	-1.0601	10	0.17832	T	0.49	-28.7893	8.7309	0.34498	0.1494:0.7698:0.0:0.0808	.	685;736;717	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	D	717;685;736	ENSP00000261722:E717D;ENSP00000438721:E685D;ENSP00000440984:E736D	ENSP00000261722:E717D	E	-	3	2	AP3B2	81130227	0.998000	0.40836	0.989000	0.46669	0.718000	0.41266	0.358000	0.20216	1.316000	0.45131	0.557000	0.71058	GAG		0.572	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			A	83333172	C	A	83333172	3	1	84	1	0	0	0	0	1	0	0	0	745	564	20	3	1133	3	AP3B2	15	83333172	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10	12158259	83333172	19198220	47	4412											
MYH11	4629	hgsc.bcm.edu	37	16	15854405	15854405	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr16:15854405T>C	ENST00000300036.5	-	11	1349	c.1240A>G	c.(1240-1242)Aaa>Gaa	p.K414E	MYH11_ENST00000452625.2_Missense_Mutation_p.K421E|MYH11_ENST00000576790.2_Missense_Mutation_p.K414E|MYH11_ENST00000396324.3_Missense_Mutation_p.K421E	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	414	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.K414E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTGTTCTTTTGTCTGAGCT	0.433			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	1	Substitution - Missense(1)	ovary(1)	16											437	338	372					16																	15854405		2197	4300	6497	15761906	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1240A>G	16.37:g.15854405T>C	ENSP00000300036:p.Lys414Glu		15761906	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299059	0.81025	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.81497	2.545	0.80722	D	1	B;B;B;B;B;B	0.29085	0.049;0.232;0.232;0.232;0.232;0.232	B;B;B;B;B;B	0.37015	0.239;0.239;0.239;0.239;0.239;0.239	T	0.77728	-0.2479	10	0.66056	D	0.02	.	13.9242	0.63952	0.0:0.0:0.0:1.0	.	421;414;414;421;414;421	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	E	414;414;421;421;421	ENSP00000300036:K414E;ENSP00000345136:K414E;ENSP00000379616:K421E;ENSP00000407821:K421E	ENSP00000300036:K414E	K	-	1	0	MYH11	15761906	1.000000	0.71417	0.994000	0.49952	0.824000	0.46624	6.201000	0.72124	1.891000	0.54761	0.254000	0.18369	AAA		0.433	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		C	15854405	T	C	15854405	3	2	84	1	0	0	0	0	1	0	0	0	10031	1850	64	4	4837	4	MYH11	16	15854405	Missense_Mutation	SNP	T	TCGA-13-0792-01A-01W-0370-10		15854405	74500348	48	4413											
GP2	2813	hgsc.bcm.edu	37	16	20335522	20335522	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr16:20335522G>C	ENST00000381362.4	-	3	227	c.151C>G	c.(151-153)Cct>Gct	p.P51A	GP2_ENST00000381360.5_Intron|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.P51A	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	51					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.P51A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGGTGCCAGGAGCTCCGCAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	16											50	48	49					16																	20335522		2203	4300	6503	20243023	SO:0001583	missense	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.151C>G	16.37:g.20335522G>C	ENSP00000370767:p.Pro51Ala		20243023	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654267	0.14580	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99548	-6.14;-6.14	4.44	-0.13	0.13498	.	.	.	.	.	D	0.97732	0.9256	L	0.46157	1.445	0.09310	N	1	B;B	0.25272	0.122;0.017	B;B	0.28305	0.088;0.012	D	0.95857	0.8880	9	0.15066	T	0.55	-0.2723	3.0479	0.06160	0.302:0.0:0.3827:0.3152	.	51;51	P55259-3;P55259	.;GP2_HUMAN	A	51	ENSP00000304044:P51A;ENSP00000370767:P51A	ENSP00000304044:P51A	P	-	1	0	GP2	20243023	0.003000	0.15002	0.002000	0.10522	0.006000	0.05464	0.527000	0.22987	0.082000	0.17018	-1.217000	0.01609	CCT		0.552	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		C	20335522	G	C	20335522	3	2	84	1	0	0	0	0	1	0	0	0	6582	1174	41	3	1502	3	GP2	16	20335522	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	4481117	20335522	70019231	49	4414											
SH2B1	25970	hgsc.bcm.edu	37	16	28884009	28884009	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr16:28884009C>T	ENST00000322610.8	+	10	2319	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	SH2B1_ENST00000395532.4_Missense_Mutation_p.S627F|SH2B1_ENST00000337120.5_Missense_Mutation_p.S627F|SH2B1_ENST00000359285.5_Missense_Mutation_p.S627F|SH2B1_ENST00000545570.1_Missense_Mutation_p.S317F|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.S291F			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	627					blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.S627F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TATGTCCCATCCTCCCAGCGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	16											84	73	77					16																	28884009		2197	4300	6497	28791510	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1880C>T	16.37:g.28884009C>T	ENSP00000321221:p.Ser627Phe		28791510	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	c	8.375	0.836297	0.16891	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	D;D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;-4.05	3.95	2.99	0.34606	.	0.077063	0.48286	D	0.000181	D	0.91081	0.7193	N	0.12182	0.205	0.32812	D	0.501555	B;P;B;P;P	0.44816	0.001;0.844;0.014;0.744;0.834	B;B;B;B;B	0.43838	0.001;0.433;0.012;0.341;0.099	D	0.91202	0.4992	10	0.44086	T	0.13	.	10.5987	0.45354	0.0:0.902:0.0:0.098	.	291;317;627;627;627	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	F	627;317;627;291;627;627	ENSP00000321221:S627F;ENSP00000440354:S317F;ENSP00000352232:S627F;ENSP00000438784:S291F;ENSP00000378903:S627F;ENSP00000337163:S627F	ENSP00000321221:S627F	S	+	2	0	SH2B1	28791510	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.787000	0.47798	0.654000	0.30846	-0.251000	0.11542	TCC		0.597	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		T	28884009	C	T	28884009	3	4	84	1	0	0	0	0	1	0	0	0	14230	855	30	2	1906	2	SH2B1	16	28884009	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10	8548487	28884009	61470744	50	4415											
TP53	7157	hgsc.bcm.edu	37	17	7577566	7577567	+	Frame_Shift_Ins	INS	-	-	A	rs193920789		TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr17:7577566_7577567insA	ENST00000269305.4	-	7	903_904	c.714_715insT	c.(712-717)tgtaacfs	p.N239fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N239fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Ins_p.N239fs	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.C238*(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.C238W(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)	CAGGAACTGTTACACATGTAGT	0.574		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"	103	Substitution - Missense(42)|Insertion - Frameshift(18)|Deletion - In frame(15)|Whole gene deletion(8)|Deletion - Frameshift(7)|Substitution - Nonsense(5)|Unknown(5)|Complex - frameshift(1)|Substitution - coding silent(1)|Insertion - In frame(1)	ovary(14)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(9)|lung(8)|biliary_tract(7)|large_intestine(7)|upper_aerodigestive_tract(6)|breast(6)|endometrium(5)|urinary_tract(5)|bone(5)|stomach(4)|prostate(2)|liver(1)|skin(1)|pancreas(1)	17																																								7518292	SO:0001589	frameshift_variant	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.715dupT	17.37:g.7577567_7577567dupA	ENSP00000269305:p.Asn239fs		7518291	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577567	-	A	7577566	7	5	84	1	0	1	1	0	0	0	0	0	16381	1754	61	0	575	0	TP53	17	7577566	Frame_Shift_Ins	INS	-	TCGA-13-0792-01A-01W-0370-10		7577566	73617644	51	4416											
C17orf75	64149	hgsc.bcm.edu	37	17	30658938	30658938	+	Nonsense_Mutation	SNP	A	A	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr17:30658938A>C	ENST00000577809.1	-	10	1084	c.1035T>G	c.(1033-1035)taT>taG	p.Y345*	RP11-227G15.3_ENST00000581915.1_RNA|RP11-227G15.2_ENST00000580360.1_lincRNA|C17orf75_ENST00000225805.4_Nonsense_Mutation_p.Y345*	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	345								p.Y345*(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TAAACAAAGCATAATGATTCA	0.328																																																1	Substitution - Nonsense(1)	ovary(1)	17											120	116	117					17																	30658938		1816	4080	5896	27683051	SO:0001587	stop_gained	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.1035T>G	17.37:g.30658938A>C	ENSP00000464275:p.Tyr345*		27683051	Q7Z2H4	Nonsense_Mutation	SNP	ENST00000577809.1	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425737	0.83667	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.89	-0.148	0.13424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0731	11.0079	0.47646	0.5889:0.0:0.4111:0.0	.	.	.	.	X	345	.	ENSP00000225805:Y345X	Y	-	3	2	C17orf75	27683051	0.363000	0.24989	0.993000	0.49108	0.990000	0.78478	-0.181000	0.09740	-0.320000	0.08640	-0.379000	0.06801	TAT		0.328	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		C	30658938	A	C	30658938	4	2	84	1	0	0	0	0	0	1	0	0	1880	224	8	5	159	5	C17orf75	17	30658938	Nonsense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10	23081372	30658938	50536272	52	4417											
BPTF	2186	hgsc.bcm.edu	37	17	65907943	65907943	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr17:65907943delA	ENST00000321892.4	+	13	4382	c.4321delA	c.(4321-4323)attfs	p.I1441fs	BPTF_ENST00000424123.3_Frame_Shift_Del_p.I1302fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.I1441fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.I1315fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1441					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I1315fs*18(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAATGAAAGCATTTCTGAACA	0.403																																																1	Deletion - Frameshift(1)	ovary(1)	17											89	89	89					17																	65907943		2203	4300	6503	63338405	SO:0001589	frameshift_variant	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4321delA	17.37:g.65907943delA	ENSP00000315454:p.Ile1441fs		63338405	Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37																																																																																					0.403	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		-	65907943	A	-	65907943	7	5	84	1	0	1	0	1	0	0	0	0	1495	217	8	0	4371	0	BPTF	17	65907943	Frame_Shift_Del	DEL	A	TCGA-13-0792-01A-01W-0370-10	35249005	65907943	15287267	53	4418											
DCC	1630	hgsc.bcm.edu	37	18	50734186	50734186	+	Splice_Site	SNP	C	C	T	rs144792181	byFrequency	TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr18:50734186C>T	ENST00000442544.2	+	11	2476	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D	DCC_ENST00000581580.1_Splice_Site_p.D275D|DCC_ENST00000412726.1_Splice_Site_p.D468D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	620	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.D620D(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACTTTCTGACGGTAAGTTAA	0.338													C|||	2	0.000399361	0	0	5008	,	,		18869	0.002		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	18						C		1,4405	2.1+/-5.4	0,1,2202	116	120	118		1860	1.8	1	18	dbSNP_134	118	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous-near-splice	DCC	NM_005215.3		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		620/1448	50734186	5,13001	2203	4300	6503	48988184	SO:0001630	splice_region_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1861+1C>T	18.37:g.50734186C>T			48988184		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																				0.338	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Silent	T	50734186	C	T	50734186	5	4	84	1	0	0	0	0	0	0	1	0	4282	550	19	1	1902	1	DCC	18	50734186	Splice_Site	SNP	C	TCGA-13-0792-01A-01W-0370-10		50734186	27343062	54	4419											
NPHS1	4868	hgsc.bcm.edu	37	19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	rs146400394		TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr19:36333388C>T	ENST00000378910.5	-	18	2398	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	800	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R800H(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCGCAGGCGCCCCGTTGG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		17530	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94	90	92		2399	3.4	0.2	19	dbSNP_134	92	0,8600		0,0,4300	no	missense	NPHS1	NM_004646.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	800/1242	36333388	1,13005	2203	4300	6503	41025228	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2399G>A	19.37:g.36333388C>T	ENSP00000368190:p.Arg800His		41025228	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.629	-0.818010	0.02776	2.27E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78707	-1.2;-1.2	4.46	3.43	0.39272	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.340502	0.29791	N	0.011187	T	0.76912	0.4054	M	0.65498	2.005	0.09310	N	0.999992	D	0.55385	0.971	P	0.49597	0.616	T	0.65990	-0.6034	10	0.25751	T	0.34	-1.0032	8.212	0.31488	0.0:0.8912:0.0:0.1088	.	800	O60500	NPHN_HUMAN	H	800	ENSP00000368190:R800H;ENSP00000343634:R800H	ENSP00000343634:R800H	R	-	2	0	NPHS1	41025228	0.000000	0.05858	0.179000	0.23059	0.016000	0.09150	0.127000	0.15790	1.117000	0.41842	0.558000	0.71614	CGC		0.607	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			T	36333388	C	T	36333388	3	4	84	1	0	0	0	0	1	0	0	0	10582	768	27	1	1374	1	NPHS1	19	36333388	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10		36333388	22795595	55	4420											
LAIR1	3903	hgsc.bcm.edu	37	19	54868159	54868159	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr19:54868159A>T	ENST00000391742.2	-	6	676	c.524T>A	c.(523-525)cTc>cAc	p.L175H	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Missense_Mutation_p.L157H|LAIR1_ENST00000348231.4_Missense_Mutation_p.L158H|LAIR1_ENST00000434277.2_Missense_Mutation_p.L174H|LAIR1_ENST00000313038.6_Missense_Mutation_p.L168H|LAIR1_ENST00000391743.3_Missense_Mutation_p.L157H			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	175					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L175H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GAGACAGAAGAGGAAGACCAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	19											128	132	131					19																	54868159		2203	4300	6503	59559971	SO:0001583	missense	3903			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.524T>A	19.37:g.54868159A>T	ENSP00000375622:p.Leu175His		59559971		Missense_Mutation	SNP	ENST00000391742.2	37	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	16.03	3.006563	0.54361	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	T;T;T;T;T;T	0.00574	6.47;6.61;6.6;6.75;6.54;6.74	4.39	4.39	0.52855	.	0.389132	0.19030	N	0.124584	T	0.02083	0.0065	M	0.66939	2.045	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.995;0.988;0.995;0.96;0.992;0.988	T	0.35325	-0.9793	10	0.87932	D	0	.	10.286	0.43566	1.0:0.0:0.0:0.0	.	175;157;157;174;158;175	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	H	157;175;174;158;168;157	ENSP00000375623:L157H;ENSP00000375622:L175H;ENSP00000391003:L174H;ENSP00000301193:L158H;ENSP00000319204:L168H;ENSP00000418998:L157H	ENSP00000319204:L168H	L	-	2	0	LAIR1	59559971	0.166000	0.22962	0.076000	0.20297	0.072000	0.16883	2.135000	0.42112	2.202000	0.70862	0.528000	0.53228	CTC		0.532	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			T	54868159	A	T	54868159	3	4	84	1	0	0	0	0	1	0	0	0	8602	304	11	5	359	5	LAIR1	19	54868159	Missense_Mutation	SNP	A	TCGA-13-0792-01A-01W-0370-10	18534771	54868159	4260824	56	4421											
BTBD3	22903	hgsc.bcm.edu	37	20	11903653	11903653	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr20:11903653C>A	ENST00000405977.1	+	5	1533	c.908C>A	c.(907-909)gCg>gAg	p.A303E	BTBD3_ENST00000399006.2_Missense_Mutation_p.A242E|BTBD3_ENST00000254977.3_Missense_Mutation_p.A242E|BTBD3_ENST00000378226.2_Missense_Mutation_p.A303E	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	303					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.A303E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CAAGATCTGGCGTTGAGCATT	0.453																																																1	Substitution - Missense(1)	ovary(1)	20											105	105	105					20																	11903653		2203	4300	6503	11851653	SO:0001583	missense	22903			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.908C>A	20.37:g.11903653C>A	ENSP00000384545:p.Ala303Glu		11851653	D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	7.486	0.649750	0.14516	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.78003	-1.13;-1.13;-1.14;-1.14	6.16	6.16	0.99307	BTB/Kelch-associated (1);	0.393509	0.31427	N	0.007663	T	0.57873	0.2083	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.18555	-1.0333	10	0.05436	T	0.98	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	303	Q9Y2F9	BTBD3_HUMAN	E	242;242;303;303	ENSP00000254977:A242E;ENSP00000381971:A242E;ENSP00000384545:A303E;ENSP00000367471:A303E	ENSP00000254977:A242E	A	+	2	0	BTBD3	11851653	0.952000	0.32445	0.949000	0.38748	0.645000	0.38454	3.804000	0.55568	2.937000	0.99478	0.650000	0.86243	GCG		0.453	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			A	11903653	C	A	11903653	3	1	84	1	0	0	0	0	1	0	0	0	1544	768	27	3	922	3	BTBD3	20	11903653	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10		11903653	51121867	57	4422											
MKL1	57591	hgsc.bcm.edu	37	22	40816954	40816954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chr22:40816954delC	ENST00000355630.3	-	10	1368	c.778delG	c.(778-780)gccfs	p.A260fs	MKL1_ENST00000396617.3_Frame_Shift_Del_p.A260fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.A210fs|MKL1_ENST00000407029.1_Frame_Shift_Del_p.A260fs	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	260					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A260fs*77(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AGGATCTTGGCGTAGGATGAG	0.612			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	1	Deletion - Frameshift(1)	ovary(1)	22											84	78	80					22																	40816954		2203	4300	6503	39146900	SO:0001589	frameshift_variant	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.778delG	22.37:g.40816954delC	ENSP00000347847:p.Ala260fs		39146900	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Frame_Shift_Del	DEL	ENST00000355630.3	37	CCDS14003.1																																																																																				0.612	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		-	40816954	C	-	40816954	7	5	84	1	0	1	0	1	0	0	0	0	9601	768	27	0	2041	0	MKL1	22	40816954	Frame_Shift_Del	DEL	C	TCGA-13-0792-01A-01W-0370-10		40816954	10487612	58	4423											
KIAA2022	340533	hgsc.bcm.edu	37	X	73959309	73959309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chrX:73959309delT	ENST00000055682.6	-	4	5093	c.4482delA	c.(4480-4482)aaafs	p.K1494fs		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1494					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.A1495fs>22(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGTTTCTGCTTTTAGGAGAT	0.358																																																1	Deletion - Frameshift(1)	ovary(1)	X											61	55	57					X																	73959309		2202	4300	6502	73876034	SO:0001589	frameshift_variant	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4482delA	X.37:g.73959309delT	ENSP00000055682:p.Lys1494fs		73876034	A7YY87|Q5JUX9|Q8IVE9	Frame_Shift_Del	DEL	ENST00000055682.6	37	CCDS35337.1																																																																																				0.358	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		-	73959309	T	-	73959309	7	5	84	1	0	1	0	1	0	0	0	0	8269	1606	56	0	72	0	KIAA2022	23	73959309	Frame_Shift_Del	DEL	T	TCGA-13-0792-01A-01W-0370-10		73959309	81311251	59	4424											
P2RY10	27334	hgsc.bcm.edu	37	X	78216070	78216070	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chrX:78216070C>G	ENST00000171757.2	+	4	333	c.53C>G	c.(52-54)aCc>aGc	p.T18S	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.T18S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.T18S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGCAACAGTACCAGCACTGCT	0.383																																																1	Substitution - Missense(1)	ovary(1)	X											142	110	121					X																	78216070		2203	4300	6503	78102726	SO:0001583	missense	27334			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.53C>G	X.37:g.78216070C>G	ENSP00000171757:p.Thr18Ser		78102726	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	0.777	-0.763801	0.02996	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.36878	1.23;1.23	5.0	4.12	0.48240	.	0.360780	0.26620	N	0.023365	T	0.32406	0.0828	L	0.61218	1.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29640	-1.0005	10	0.09338	T	0.73	.	12.4502	0.55673	0.1688:0.8312:0.0:0.0	.	18	O00398	P2Y10_HUMAN	S	18	ENSP00000443138:T18S;ENSP00000171757:T18S	ENSP00000171757:T18S	T	+	2	0	P2RY10	78102726	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-0.214000	0.09292	1.067000	0.40740	0.417000	0.27973	ACC		0.383	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			G	78216070	C	G	78216070	3	3	84	1	0	0	0	0	1	0	0	0	11347	507	18	3	55	3	P2RY10	23	78216070	Missense_Mutation	SNP	C	TCGA-13-0792-01A-01W-0370-10	4256761	78216070	77054490	60	4425											
GPRASP1	9737	hgsc.bcm.edu	37	X	101911422	101911423	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chrX:101911422_101911423delGG	ENST00000361600.5	+	5	3382_3383	c.2581_2582delGG	c.(2581-2583)ggcfs	p.G861fs	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.G861fs|GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.G861fs|GPRASP1_ENST00000537097.1_Frame_Shift_Del_p.G861fs	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	861	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.G861fs*2(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGCAGGAGTCGGCTTTGAGTCA	0.525																																																1	Deletion - Frameshift(1)	ovary(1)	X																																								101798079	SO:0001589	frameshift_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2581_2582delGG	X.37:g.101911422_101911423delGG	ENSP00000355146:p.Gly861fs		101798078	O43168|Q96LA1	Frame_Shift_Del	DEL	ENST00000361600.5	37	CCDS35352.1																																																																																				0.525	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		-	101911423	GG	-	101911422	7	5	84	1	0	1	0	1	0	0	0	0	6722	1116	39	0	2583	0	GPRASP1	23	101911422	Frame_Shift_Del	DEL	GG	TCGA-13-0792-01A-01W-0370-10	23695352	101911422	53359138	61	4426											
ATP11C	286410	hgsc.bcm.edu	37	X	138844133	138844133	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chrX:138844133T>A	ENST00000327569.3	-	22	2734	c.2636A>T	c.(2635-2637)tAc>tTc	p.Y879F	ATP11C_ENST00000370557.1_Missense_Mutation_p.Y873F|ATP11C_ENST00000370543.1_Missense_Mutation_p.Y879F|ATP11C_ENST00000359686.2_Missense_Mutation_p.Y879F|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.Y879F	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	879					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y879F(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATAGAAGAAGTACTGTACAAG	0.318																																																1	Substitution - Missense(1)	ovary(1)	X											95	85	88					X																	138844133		2203	4300	6503	138671799	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2636A>T	X.37:g.138844133T>A	ENSP00000332756:p.Tyr879Phe		138671799	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079125	0.76528	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.75085	2.285	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71656	0.974;0.941;0.974	D	0.93843	0.7138	10	0.54805	T	0.06	.	14.1997	0.65693	0.0:0.0:0.0:1.0	.	879;879;879	Q8NB49-3;Q8NB49;Q8NB49-2	.;AT11C_HUMAN;.	F	873;879;879;879;879	ENSP00000359588:Y873F;ENSP00000355165:Y879F;ENSP00000332756:Y879F;ENSP00000359574:Y879F;ENSP00000352715:Y879F	ENSP00000332756:Y879F	Y	-	2	0	ATP11C	138671799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	1.952000	0.56665	0.441000	0.28932	TAC		0.318	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		A	138844133	T	A	138844133	3	1	84	1	0	0	0	0	1	0	0	0	1121	1638	57	5	861	5	ATP11C	23	138844133	Missense_Mutation	SNP	T	TCGA-13-0792-01A-01W-0370-10	36932711	138844133	16426427	62	4427											
G6PD	2539	hgsc.bcm.edu	37	X	153760229	153760229	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chrX:153760229G>A	ENST00000393564.2	-	13	1646	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	G6PD_ENST00000393562.2_Missense_Mutation_p.P542S|G6PD_ENST00000369620.2_Missense_Mutation_p.P558S	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	512					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.P512S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTTGTGGGGGTTCACCCAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	X											58	38	45					X																	153760229		2203	4298	6501	153413423	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1534C>T	X.37:g.153760229G>A	ENSP00000377194:p.Pro512Ser		153413423	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030172	0.54790	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.98777	-5.13;-5.13;-5.13	5.33	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	L	0.55743	1.74	0.80722	D	1	B;B	0.16802	0.004;0.019	B;B	0.21151	0.009;0.033	D	0.94622	0.7814	10	0.44086	T	0.13	.	10.851	0.46769	0.0942:0.0:0.9057:0.0	.	512;542	P11413;P11413-3	G6PD_HUMAN;.	S	542;512;512;558	ENSP00000377192:P542S;ENSP00000377194:P512S;ENSP00000358633:P558S	ENSP00000291567:P512S	P	-	1	0	G6PD	153413423	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.721000	0.91446	1.018000	0.39521	-0.195000	0.12781	CCC		0.667	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		A	153760229	G	A	153760229	3	1	84	1	0	0	0	0	1	0	0	0	6146	1232	43	2	17	2	G6PD	23	153760229	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	14916096	153760229	1510331	63	4428			1	3		2	2	32	G		6.408738e-05
G6PD	2539	hgsc.bcm.edu	37	X	153760260	153760260	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0792-01A-01W-0370-10	TCGA-13-0792-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9cdc53bb-76cd-4c43-91bc-5d4c4aae1069	abfbe804-6ddc-4821-ac7d-6fe038d22a95	g.chrX:153760260G>C	ENST00000393564.2	-	13	1615	c.1503C>G	c.(1501-1503)ttC>ttG	p.F501L	G6PD_ENST00000393562.2_Missense_Mutation_p.F531L|G6PD_ENST00000369620.2_Missense_Mutation_p.F547L	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	501					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.F501L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTCATACTGGAAACCCACTC	0.672																																																1	Substitution - Missense(1)	ovary(1)	X											65	41	49					X																	153760260		2203	4299	6502	153413454	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1503C>G	X.37:g.153760260G>C	ENSP00000377194:p.Phe501Leu		153413454	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.802007	0.70682	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.98178	-4.77;-4.77;-4.77	5.33	5.33	0.75918	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.99761	1.1021	10	0.62326	D	0.03	.	15.3073	0.74001	0.0:0.0:1.0:0.0	.	501;531	P11413;P11413-3	G6PD_HUMAN;.	L	531;501;501;547	ENSP00000377192:F531L;ENSP00000377194:F501L;ENSP00000358633:F547L	ENSP00000291567:F501L	F	-	3	2	G6PD	153413454	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	4.423000	0.59861	2.205000	0.71048	0.597000	0.82753	TTC		0.672	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		C	153760260	G	C	153760260	3	2	84	1	0	0	0	0	1	0	0	0	6146	1165	41	3	48	3	G6PD	23	153760260	Missense_Mutation	SNP	G	TCGA-13-0792-01A-01W-0370-10	31	153760260	1510300	64	4429			1	3		2	2	32	G		6.408738e-05
KCNC4	3749	hgsc.bcm.edu	37	1	110765612	110765612	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr1:110765612C>A	ENST00000369787.3	+	2	732	c.705C>A	c.(703-705)ttC>ttA	p.F235L	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.F235L|KCNC4_ENST00000413138.3_Missense_Mutation_p.F235L	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	235					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|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.F235L(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTCTCTTCTTCATCCTGGTCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											94	89	91					1																	110765612		2203	4300	6503	110567135	SO:0001583	missense	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.705C>A	1.37:g.110765612C>A	ENSP00000358802:p.Phe235Leu		110567135	Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588764	0.46110	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.96940	-4.18;-4.18;-4.18	4.88	2.96	0.34315	.	0.000000	0.85682	D	0.000000	D	0.96185	0.8756	L	0.55103	1.725	0.80722	D	1	B;B;D	0.76494	0.023;0.175;0.999	B;B;D	0.79784	0.074;0.155;0.993	D	0.95840	0.8865	10	0.56958	D	0.05	.	11.4849	0.50348	0.0:0.787:0.0:0.213	.	235;235;235	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	L	235	ENSP00000358802:F235L;ENSP00000388029:F235L;ENSP00000393655:F235L	ENSP00000358802:F235L	F	+	3	2	KCNC4	110567135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.074000	0.57577	1.189000	0.43028	0.455000	0.32223	TTC		0.587	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		A	110765612	C	A	110765612	3	1	85	1	0	0	0	0	1	0	0	0	8017	825	29	3	711	3	KCNC4	1	110765612	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10		110765612	138485009	1	4430											
RUSC1	23623	hgsc.bcm.edu	37	1	155295397	155295397	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr1:155295397T>G	ENST00000368352.5	+	6	1899	c.1748T>G	c.(1747-1749)gTc>gGc	p.V583G	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Missense_Mutation_p.V583G|RUSC1_ENST00000368349.4_Missense_Mutation_p.V114G|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368347.4_Missense_Mutation_p.V173G|RUSC1_ENST00000292254.4_Missense_Mutation_p.V114G	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	583	Interaction with TRAF6.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.V114G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TATAGCCAGGTCAGCCGTCTA	0.647											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											55	59	58					1																	155295397		2203	4300	6503	153562021	SO:0001583	missense	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1748T>G	1.37:g.155295397T>G	ENSP00000357336:p.Val583Gly	1769	153562021	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987777	0.53934	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	4.34	3.19	0.36642	RUN (2);	0.000000	0.49305	D	0.000155	T	0.44414	0.1292	L	0.49126	1.545	0.80722	D	1	P;D;B;D;B;P	0.67145	0.954;0.979;0.005;0.996;0.013;0.954	D;P;B;D;B;D	0.72075	0.94;0.9;0.012;0.976;0.036;0.94	T	0.48139	-0.9061	10	0.87932	D	0	-21.9849	10.9269	0.47195	0.0:0.0:0.1579:0.8421	.	81;114;114;173;188;583	B4DQB8;Q9BVN2-2;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;RUSC1_HUMAN	G	583;583;173;114;114	ENSP00000357338:V583G;ENSP00000357336:V583G;ENSP00000357331:V173G;ENSP00000357333:V114G;ENSP00000292254:V114G	ENSP00000292254:V114G	V	+	2	0	RUSC1	153562021	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	5.384000	0.66225	0.781000	0.33589	-0.313000	0.08912	GTC		0.647	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			G	155295397	T	G	155295397	3	3	85	1	0	0	0	0	1	0	0	0	13753	1667	58	5	1897	5	RUSC1	1	155295397	Missense_Mutation	SNP	T	TCGA-13-0793-01A-01W-0370-10	44529785	155295397	93955224	2	4431											
ADAMTS4	9507	hgsc.bcm.edu	37	1	161161089	161161089	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr1:161161089C>A	ENST00000367996.5	-	9	2781	c.2353G>T	c.(2353-2355)Gtc>Ttc	p.V785F	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	785	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.V785L(1)|p.V785F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GCCACTAGGACTTGCAGTGTC	0.657																																																2	Substitution - Missense(2)	ovary(2)	1											62	49	54					1																	161161089		2203	4300	6503	159427713	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2353G>T	1.37:g.161161089C>A	ENSP00000356975:p.Val785Phe		159427713	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478971	0.84747	.	.	ENSG00000158859	ENST00000367996	T	0.59906	0.23	4.42	4.42	0.53409	ADAM-TS Spacer 1 (1);	0.282688	0.26297	N	0.025200	T	0.70570	0.3239	M	0.83223	2.63	0.80722	D	1	P	0.44260	0.83	P	0.58013	0.831	T	0.75739	-0.3212	10	0.87932	D	0	.	16.3084	0.82859	0.0:1.0:0.0:0.0	.	785	O75173	ATS4_HUMAN	F	785	ENSP00000356975:V785F	ENSP00000356975:V785F	V	-	1	0	ADAMTS4	159427713	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.577000	0.67444	2.438000	0.82558	0.561000	0.74099	GTC		0.657	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		A	161161089	C	A	161161089	3	1	85	1	0	0	0	0	1	0	0	0	268	565	20	3	164	3	ADAMTS4	1	161161089	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	5865692	161161089	88089532	3	4432											
PAPPA2	60676	hgsc.bcm.edu	37	1	176675572	176675572	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr1:176675572G>T	ENST00000367662.3	+	10	4607	c.3443G>T	c.(3442-3444)gGt>gTt	p.G1148V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1148					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G1148V(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGAGGAAGGTTTCAACTGT	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											203	211	208					1																	176675572		1942	4152	6094	174942195	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3443G>T	1.37:g.176675572G>T	ENSP00000356634:p.Gly1148Val		174942195	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	7.876	0.729260	0.15507	.	.	ENSG00000116183	ENST00000367662	T	0.40225	1.04	5.65	5.65	0.86999	.	0.206101	0.51477	D	0.000091	T	0.48537	0.1505	M	0.83483	2.645	0.80722	D	1	P	0.42483	0.781	B	0.41466	0.358	T	0.50233	-0.8852	10	0.32370	T	0.25	-16.2992	12.6645	0.56833	0.076:0.0:0.924:0.0	.	1148	Q9BXP8	PAPP2_HUMAN	V	1148	ENSP00000356634:G1148V	ENSP00000356634:G1148V	G	+	2	0	PAPPA2	174942195	1.000000	0.71417	0.998000	0.56505	0.258000	0.26162	3.303000	0.51858	2.660000	0.90430	0.655000	0.94253	GGT		0.423	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176675572	G	T	176675572	3	4	85	1	0	0	0	0	1	0	0	0	11433	1261	44	3	3530	3	PAPPA2	1	176675572	Missense_Mutation	SNP	G	TCGA-13-0793-01A-01W-0370-10	15514483	176675572	72575049	4	4433											
NCOA1	8648	hgsc.bcm.edu	37	2	24928072	24928072	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr2:24928072C>T	ENST00000406961.1	+	12	1719	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	NCOA1_ENST00000407230.1_Missense_Mutation_p.P205L|NCOA1_ENST00000538539.1_Missense_Mutation_p.P356L|NCOA1_ENST00000288599.5_Missense_Mutation_p.P356L|NCOA1_ENST00000348332.3_Missense_Mutation_p.P356L|NCOA1_ENST00000395856.3_Missense_Mutation_p.P356L|NCOA1_ENST00000405141.1_Missense_Mutation_p.P356L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	356					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.P356L(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACATGCAACCTTTCATCATG	0.398			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	1	Substitution - Missense(1)	ovary(1)	2											117	112	113					2																	24928072		2203	4300	6503	24781576	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1067C>T	2.37:g.24928072C>T	ENSP00000385216:p.Pro356Leu		24781576	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409411	0.83340	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.76	5.76	0.90799	.	0.050122	0.85682	D	0.000000	T	0.46229	0.1382	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;0.99;0.999;0.998	D;P;D;P	0.91635	0.999;0.618;0.965;0.798	T	0.14282	-1.0478	10	0.52906	T	0.07	.	19.9381	0.97149	0.0:1.0:0.0:0.0	.	356;356;356;205	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	L	356;356;205;356;356;356;356	ENSP00000385216:P356L;ENSP00000385097:P356L;ENSP00000385195:P205L;ENSP00000444039:P356L;ENSP00000320940:P356L;ENSP00000288599:P356L;ENSP00000379197:P356L	ENSP00000288599:P356L	P	+	2	0	NCOA1	24781576	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.909000	0.75735	2.880000	0.98712	0.650000	0.86243	CCT		0.398	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		T	24928072	C	T	24928072	3	4	85	1	0	0	0	0	1	0	0	0	10228	681	24	2	1097	2	NCOA1	2	24928072	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10		24928072	218271301	5	4434											
KCMF1	56888	hgsc.bcm.edu	37	2	85280388	85280388	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr2:85280388delA	ENST00000409785.4	+	7	1361	c.1002delA	c.(1000-1002)tcafs	p.S336fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	336	Poly-Ser.						ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S335fs*19(1)		ovary(3)	3						AAGAGAGCTCATCCTCAGATG	0.483																																																1	Deletion - Frameshift(1)	ovary(1)	2											61	66	64					2																	85280388		1965	4161	6126	85133899	SO:0001589	frameshift_variant	56888			AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.1002delA	2.37:g.85280388delA	ENSP00000386738:p.Ser336fs		85133899	Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Frame_Shift_Del	DEL	ENST00000409785.4	37	CCDS46350.1																																																																																				0.483	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		-	85280388	A	-	85280388	7	5	85	1	0	1	0	1	0	0	0	0	8000	204	8	0	1028	0	KCMF1	2	85280388	Frame_Shift_Del	DEL	A	TCGA-13-0793-01A-01W-0370-10	60352316	85280388	157918985	6	4435											
ANKAR	150709	hgsc.bcm.edu	37	2	190608163	190608163	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr2:190608163C>G	ENST00000520309.1	+	21	4061	c.3973C>G	c.(3973-3975)Caa>Gaa	p.Q1325E	ANKAR_ENST00000431575.2_Missense_Mutation_p.Q1254E|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.Q1325E|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1325						integral component of membrane (GO:0016021)		p.Q1254E(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAAGGAATTTCAAATGCAACA	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											70	71	71					2																	190608163		2203	4300	6503	190316408	SO:0001583	missense	150709			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3973C>G	2.37:g.190608163C>G	ENSP00000427882:p.Gln1325Glu		190316408	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	8.743	0.919445	0.17982	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575	T;T;T	0.24151	1.87;1.87;1.87	5.59	-0.00906	0.14002	.	0.944014	0.08792	N	0.893136	T	0.27419	0.0673	L	0.41236	1.265	0.51233	D	0.999915	.	.	.	.	.	.	T	0.14896	-1.0456	8	0.30854	T	0.27	-1.7599	10.0426	0.42166	0.4958:0.2842:0.22:0.0	.	.	.	.	E	1325;1325;1254	ENSP00000427882:Q1325E;ENSP00000313513:Q1325E;ENSP00000393043:Q1254E	ENSP00000313513:Q1325E	Q	+	1	0	ANKAR	190316408	0.926000	0.31397	0.347000	0.25668	0.992000	0.81027	-0.234000	0.09028	-0.018000	0.14079	0.557000	0.71058	CAA		0.348	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		G	190608163	C	G	190608163	3	3	85	1	0	0	0	0	1	0	0	0	623	827	29	3	4051	3	ANKAR	2	190608163	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	105327775	190608163	52591210	7	4436											
TRIM71	131405	hgsc.bcm.edu	37	3	32932169	32932169	+	Silent	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr3:32932169C>T	ENST00000383763.5	+	4	1536	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	491					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G491G(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGCCACAGGCGATGGCCTCA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	3											45	49	48					3																	32932169		2030	4188	6218	32907173	SO:0001819	synonymous_variant	131405				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1473C>T	3.37:g.32932169C>T			32907173		Silent	SNP	ENST00000383763.5	37	CCDS43060.1																																																																																				0.587	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		T	32932169	C	T	32932169	2	4	85	1	0	0	0	0	0	0	0	1	16544	755	27	1		1	TRIM71	3	32932169	Silent	SNP	C	TCGA-13-0793-01A-01W-0370-10		32932169	165090261	8	4437											
PBRM1	55193	hgsc.bcm.edu	37	3	52692281	52692281	+	Silent	SNP	T	T	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr3:52692281T>G	ENST00000296302.7	-	5	580	c.579A>C	c.(577-579)atA>atC	p.I193I	PBRM1_ENST00000356770.4_Silent_p.I193I|PBRM1_ENST00000409114.3_Silent_p.I193I|PBRM1_ENST00000337303.4_Silent_p.I193I|PBRM1_ENST00000409767.1_Silent_p.I193I|PBRM1_ENST00000410007.1_Silent_p.I193I|PBRM1_ENST00000394830.3_Silent_p.I193I|PBRM1_ENST00000409057.1_Silent_p.I193I			Q86U86	PB1_HUMAN	polybromo 1	193					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I193I(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAGCTACAACTATGGCTTCAA	0.393			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	1	Substitution - coding silent(1)	ovary(1)	3											83	80	81					3																	52692281		2203	4300	6503	52667321	SO:0001819	synonymous_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.579A>C	3.37:g.52692281T>G			52667321	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.393	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		G	52692281	T	G	52692281	2	3	85	1	0	0	0	0	0	0	0	1	11491	1512	53	5		5	PBRM1	3	52692281	Silent	SNP	T	TCGA-13-0793-01A-01W-0370-10	19760112	52692281	145330149	9	4438											
FRMD4B	23150	hgsc.bcm.edu	37	3	69267495	69267495	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr3:69267495C>A	ENST00000398540.3	-	10	850	c.767G>T	c.(766-768)gGt>gTt	p.G256V	FRMD4B_ENST00000542259.1_Missense_Mutation_p.G202V	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	256	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)		p.G202V(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ATAATGGACACCGTAAGTCGG	0.313																																																1	Substitution - Missense(1)	ovary(1)	3											44	43	43					3																	69267495		1816	4078	5894	69350185	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.767G>T	3.37:g.69267495C>A	ENSP00000381549:p.Gly256Val		69350185	Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073867	0.76415	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880	D;D;D	0.96396	-4.0;-4.0;-4.0	5.87	5.87	0.94306	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99208	1.0875	10	0.87932	D	0	-15.953	18.9896	0.92786	0.0:1.0:0.0:0.0	.	100;256	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	V	256;202;147	ENSP00000381549:G256V;ENSP00000437658:G202V;ENSP00000418962:G147V	ENSP00000381549:G256V	G	-	2	0	FRMD4B	69350185	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	6.678000	0.74508	2.785000	0.95823	0.655000	0.94253	GGT		0.313	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			A	69267495	C	A	69267495	3	1	85	1	0	0	0	0	1	0	0	0	6052	507	18	3	2393	3	FRMD4B	3	69267495	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	16575214	69267495	128754935	10	4439											
KALRN	8997	hgsc.bcm.edu	37	3	124209720	124209720	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr3:124209720A>G	ENST00000240874.3	+	30	4727	c.4570A>G	c.(4570-4572)Aac>Gac	p.N1524D	KALRN_ENST00000360013.3_Missense_Mutation_p.N1524D|KALRN_ENST00000460856.1_Missense_Mutation_p.N1515D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1524	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.N1524D(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						TGTTTACAAGAACAAGCTACT	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											47	52	50					3																	124209720		2203	4300	6503	125692410	SO:0001583	missense	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.4570A>G	3.37:g.124209720A>G	ENSP00000240874:p.Asn1524Asp		125692410	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930420	0.52866	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.11930	2.73;2.73;2.73	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.057462	0.64402	D	0.000002	T	0.33206	0.0855	M	0.70595	2.14	0.80722	D	1	B;P;B	0.45715	0.271;0.865;0.222	B;P;B	0.57620	0.103;0.824;0.209	T	0.01178	-1.1427	10	0.41790	T	0.15	.	15.8108	0.78561	1.0:0.0:0.0:0.0	.	1515;1524;1524	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	D	1515;1524;1524	ENSP00000418611:N1515D;ENSP00000240874:N1524D;ENSP00000353109:N1524D	ENSP00000240874:N1524D	N	+	1	0	KALRN	125692410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.116000	0.77119	2.320000	0.78422	0.528000	0.53228	AAC		0.502	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		G	124209720	A	G	124209720	3	3	85	1	0	0	0	0	1	0	0	0	7975	246	9	4	4688	4	KALRN	3	124209720	Missense_Mutation	SNP	A	TCGA-13-0793-01A-01W-0370-10	54942225	124209720	73812710	11	4440											
TIPARP	25976	hgsc.bcm.edu	37	3	156396019	156396030	+	In_Frame_Del	DEL	TAGACAAAGTCA	TAGACAAAGTCA	-	rs372015234|rs140976569		TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	TAGACAAAGTCA	TAGACAAAGTCA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr3:156396019_156396030delTAGACAAAGTCA	ENST00000461166.1	+	2	1121_1132	c.533_544delTAGACAAAGTCA	c.(532-546)ttagacaaagtcata>tta	p.DKVI179del	TIPARP_ENST00000542783.1_In_Frame_Del_p.DKVI179del|TIPARP_ENST00000295924.7_In_Frame_Del_p.DKVI179del|TIPARP_ENST00000486483.1_In_Frame_Del_p.DKVI179del	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	179					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K180_D183delKVID(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCTGACTGCTTAGACAAAGTCATAGATTATGT	0.439																																					Ovarian(171;276 1987 3319 6837 11197)											1	Deletion - In frame(1)	ovary(1)	3																																								157878724	SO:0001651	inframe_deletion	25976			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.533_544delTAGACAAAGTCA	3.37:g.156396019_156396030delTAGACAAAGTCA	ENSP00000420612:p.Asp179_Ile182del		157878713	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	In_Frame_Del	DEL	ENST00000461166.1	37	CCDS3177.1																																																																																				0.439	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		-	156396030	TAGACAAAGTCA	-	156396019	7	5	85	1	0	1	0	1	0	0	0	0	15924	1764	61	0	535	0	TIPARP	3	156396019	In_Frame_Del	DEL	TAGACAAAGTCA	TCGA-13-0793-01A-01W-0370-10	32186299	156396019	41626411	12	4441											
MECOM	2122	hgsc.bcm.edu	37	3	168819924	168819924	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr3:168819924T>C	ENST00000464456.1	-	9	3304	c.2104A>G	c.(2104-2106)Atg>Gtg	p.M702V	MECOM_ENST00000472280.1_Missense_Mutation_p.M712V|MECOM_ENST00000468789.1_Missense_Mutation_p.M711V|MECOM_ENST00000460814.1_Missense_Mutation_p.M702V|MECOM_ENST00000494292.1_Missense_Mutation_p.M890V|MECOM_ENST00000392736.3_Missense_Mutation_p.M711V|MECOM_ENST00000433243.2_Missense_Mutation_p.M712V|MECOM_ENST00000264674.3_Missense_Mutation_p.M776V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M711V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAGTTGAACATAGAGGGCACT	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											82	74	77					3																	168819924		2203	4300	6503	170302618	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2104A>G	3.37:g.168819924T>C	ENSP00000419770:p.Met702Val		170302618	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	3.726	-0.056465	0.07362	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05139	3.52;3.52;3.49;3.61;3.49;3.52;3.49;3.61	5.45	5.45	0.79879	.	0.234871	0.38272	N	0.001747	T	0.03739	0.0106	N	0.03608	-0.345	0.44825	D	0.997834	B;B;B;B;B	0.14805	0.011;0.002;0.007;0.003;0.001	B;B;B;B;B	0.10450	0.005;0.002;0.002;0.003;0.002	T	0.52953	-0.8506	10	0.25106	T	0.35	-15.3729	15.8461	0.78890	0.0:0.0:0.0:1.0	.	899;703;890;776;711	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	V	776;711;702;712;890;711;702;712	ENSP00000264674:M776V;ENSP00000376493:M711V;ENSP00000419770:M702V;ENSP00000420048:M712V;ENSP00000417899:M890V;ENSP00000419995:M711V;ENSP00000420466:M702V;ENSP00000394302:M712V	ENSP00000264674:M776V	M	-	1	0	MECOM	170302618	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	3.713000	0.54882	2.205000	0.71048	0.533000	0.62120	ATG		0.502	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		C	168819924	T	C	168819924	3	2	85	1	0	0	0	0	1	0	0	0	9422	1406	49	4	1052	4	MECOM	3	168819924	Missense_Mutation	SNP	T	TCGA-13-0793-01A-01W-0370-10	12423905	168819924	29202506	13	4442											
FAM190A	401145	hgsc.bcm.edu	37	4	91321222	91321222	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr4:91321222T>A	ENST00000509176.1	+	4	1833	c.1545T>A	c.(1543-1545)gaT>gaA	p.D515E	CCSER1_ENST00000432775.2_Missense_Mutation_p.D515E|CCSER1_ENST00000333691.8_Missense_Mutation_p.D515E	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	515								p.D517E(1)									GTGAACTGGATGAAGATGATC	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											208	175	185					4																	91321222		1851	4111	5962	91540245	SO:0001583	missense	401145				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1545T>A	4.37:g.91321222T>A	ENSP00000425040:p.Asp515Glu		91540245	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878788	0.72294	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.42131	1.42;0.98;1.42	4.59	2.05	0.26809	.	0.136013	0.46145	D	0.000309	T	0.39226	0.1070	N	0.13235	0.315	0.29599	N	0.847794	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.994	T	0.31308	-0.9948	10	0.14656	T	0.56	-23.0461	8.9057	0.35521	0.0:0.164:0.0:0.836	.	515;515	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	E	515	ENSP00000425040:D515E;ENSP00000389283:D515E;ENSP00000329482:D515E	ENSP00000329482:D515E	D	+	3	2	FAM190A	91540245	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.693000	0.37742	0.326000	0.23384	-0.541000	0.04245	GAT		0.333	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		A	91321222	T	A	91321222	3	1	85	1	0	0	0	0	1	0	0	0	5521	1461	51	5	1555	5	FAM190A	4	91321222	Missense_Mutation	SNP	T	TCGA-13-0793-01A-01W-0370-10		91321222	99833054	14	4443											
APC	324	hgsc.bcm.edu	37	5	112173846	112173846	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr5:112173846T>C	ENST00000457016.1	+	16	2935	c.2555T>C	c.(2554-2556)tTg>tCg	p.L852S	APC_ENST00000257430.4_Missense_Mutation_p.L852S|APC_ENST00000508376.2_Missense_Mutation_p.L852S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	852	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R850fs*59(1)|p.L852*(1)|p.L852S(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATAGAAGTTTGGAGAGAGAA	0.443		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	4	Substitution - Nonsense(1)|Unknown(1)|Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(2)|ovary(1)|skin(1)	5	GRCh37	CM083586	APC	M							64	65	65					5																	112173846		2202	4300	6502	112201745	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2555T>C	5.37:g.112173846T>C	ENSP00000413133:p.Leu852Ser		112201745	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.051722	0.36181	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94417	-2.67;-3.42;-2.67;-2.67;-2.86	6.16	6.16	0.99307	.	0.000000	0.53938	D	0.000045	D	0.90724	0.7089	L	0.45581	1.43	0.41159	D	0.98608	B;B	0.20164	0.01;0.042	B;B	0.17722	0.01;0.019	D	0.85982	0.1483	10	0.05833	T	0.94	-6.1256	15.3771	0.74615	0.0:0.0:0.0:1.0	.	854;852	Q4LE70;P25054	.;APC_HUMAN	S	852;834;852;852;852	ENSP00000413133:L852S;ENSP00000423224:L834S;ENSP00000257430:L852S;ENSP00000427089:L852S;ENSP00000423828:L852S	ENSP00000257430:L852S	L	+	2	0	APC	112201745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.971000	0.56831	2.367000	0.80283	0.528000	0.53228	TTG		0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		C	112173846	T	C	112173846	3	2	85	1	0	0	0	0	1	0	0	0	763	1821	63	4	2613	4	APC	5	112173846	Missense_Mutation	SNP	T	TCGA-13-0793-01A-01W-0370-10		112173846	68741414	15	4444											
BRD8	10902	hgsc.bcm.edu	37	5	137501705	137501705	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr5:137501705T>A	ENST00000254900.5	-	11	1461	c.1090A>T	c.(1090-1092)Atc>Ttc	p.I364F	BRD8_ENST00000230901.5_Missense_Mutation_p.I437F|BRD8_ENST00000455658.2_Missense_Mutation_p.I323F|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000402931.1_Missense_Mutation_p.I364F|BRD8_ENST00000411594.2_Missense_Mutation_p.I367F	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	364					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.I364F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATAGAATTGATGATCATGGAT	0.473																																																1	Substitution - Missense(1)	ovary(1)	5											149	143	145					5																	137501705		2203	4300	6503	137529604	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1090A>T	5.37:g.137501705T>A	ENSP00000254900:p.Ile364Phe		137529604	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.576995	0.65878	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000453824	T;T;T;T;T;T;T	0.37058	1.62;1.25;1.22;1.28;1.4;1.22;1.38	5.65	4.43	0.53597	.	0.218155	0.47093	D	0.000247	T	0.40767	0.1130	N	0.14661	0.345	0.50171	D	0.999854	D;D;D;D;B;B;D;D	0.89917	1.0;0.999;0.998;0.998;0.2;0.347;0.999;0.999	D;D;D;D;B;B;D;D	0.85130	0.997;0.993;0.986;0.986;0.034;0.069;0.994;0.993	T	0.39165	-0.9627	10	0.59425	D	0.04	-11.4674	11.5961	0.50975	0.1325:0.0:0.0:0.8675	.	323;348;143;437;367;258;437;364	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	F	364;393;362;437;364;367;258;323;182	ENSP00000254900:I364F;ENSP00000398067:I393F;ENSP00000398873:I362F;ENSP00000230901:I437F;ENSP00000384845:I364F;ENSP00000394330:I367F;ENSP00000408396:I323F	ENSP00000230901:I437F	I	-	1	0	BRD8	137529604	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.073000	0.57570	2.371000	0.80710	0.533000	0.62120	ATC		0.473	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		A	137501705	T	A	137501705	3	1	85	1	0	0	0	0	1	0	0	0	1506	1464	51	5	2749	5	BRD8	5	137501705	Missense_Mutation	SNP	T	TCGA-13-0793-01A-01W-0370-10	25327859	137501705	43413555	16	4445											
PCDHAC1	56135	hgsc.bcm.edu	37	5	140306534	140306534	+	Silent	SNP	G	G	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr5:140306534G>A	ENST00000253807.2	+	1	57	c.57G>A	c.(55-57)gcG>gcA	p.A19A	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.A19A|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	19	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A19A(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGCAGCGGGACAGCTCG	0.637																																																1	Substitution - coding silent(1)	ovary(1)	5											109	128	121					5																	140306534		2203	4300	6503	140286718	SO:0001819	synonymous_variant	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.57G>A	5.37:g.140306534G>A			140286718	Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	CCDS4241.1																																																																																				0.637	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		A	140306534	G	A	140306534	2	1	85	1	0	0	0	0	0	0	0	1	11532	1103	39	1		1	PCDHAC1	5	140306534	Silent	SNP	G	TCGA-13-0793-01A-01W-0370-10	2804829	140306534	40608726	17	4446											
PHACTR1	221692	hgsc.bcm.edu	37	6	13228205	13228205	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:13228205G>C	ENST00000379350.1	+	8	1273	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.E382Q|PHACTR1_ENST00000457702.2_Missense_Mutation_p.E237Q			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	382					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTGCCTCATGAGTCAGACTA	0.458																																																0			6											153	160	158					6																	13228205		1998	4169	6167	13336184	SO:0001583	missense	221692			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1144G>C	6.37:g.13228205G>C	ENSP00000368655:p.Glu382Gln		13336184	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.564410|4.564410	0.86335|0.86335	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702|ENST00000415087	T;T;T|.	0.36157|.	1.27;1.33;1.32|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.045872|.	0.85682|.	D|.	0.000000|.	T|T	0.60650|0.60650	0.2285|0.2285	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	P;P;P|.	0.44816|.	0.587;0.759;0.844|.	B;B;P|.	0.44359|.	0.383;0.261;0.447|.	T|T	0.54234|0.54234	-0.8324|-0.8324	10|5	0.51188|.	T|.	0.08|.	-11.4001|-11.4001	19.3193|19.3193	0.94231|0.94231	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	451;382;382|.	E7ESR5;Q9C0D0;Q9C0D0-2|.	.;PHAR1_HUMAN;.|.	Q|I	382;382;451;237|216	ENSP00000368655:E382Q;ENSP00000329880:E382Q;ENSP00000397669:E237Q|.	ENSP00000329880:E382Q|.	E|M	+|+	1|3	0|0	PHACTR1|PHACTR1	13336184|13336184	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.976000|0.976000	0.68499|0.68499	7.333000|7.333000	0.79214|0.79214	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.458	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		C	13228205	G	C	13228205	3	2	85	1	0	0	0	0	1	0	0	0	11809	1291	45	3	1170	3	PHACTR1	6	13228205	Missense_Mutation	SNP	G	TCGA-13-0793-01A-01W-0370-10		13228205	157886862	18	4447											
JARID2	3720	hgsc.bcm.edu	37	6	15497126	15497126	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:15497126T>G	ENST00000341776.2	+	7	1914	c.1670T>G	c.(1669-1671)aTc>aGc	p.I557S	JARID2_ENST00000541660.1_Missense_Mutation_p.I519S|JARID2_ENST00000397311.3_Missense_Mutation_p.I385S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	557	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I557S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATGGACGAGATCCCCGTCCTC	0.652																																																1	Substitution - Missense(1)	ovary(1)	6											41	38	39					6																	15497126		2203	4300	6503	15605105	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1670T>G	6.37:g.15497126T>G	ENSP00000341280:p.Ile557Ser		15605105	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686221	0.47991	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89123	-1.85;-1.85;-2.47	5.23	5.23	0.72850	Transcription factor jumonji, JmjN (2);	0.161111	0.56097	D	0.000036	D	0.83031	0.5166	M	0.75447	2.3	0.43830	D	0.996404	B;P;B	0.40144	0.435;0.704;0.294	B;B;B	0.33521	0.086;0.165;0.084	D	0.85069	0.0939	10	0.44086	T	0.13	-12.9692	15.1004	0.72269	0.0:0.0:0.0:1.0	.	519;421;557	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	S	421;557;385;519	ENSP00000341280:I557S;ENSP00000380478:I385S;ENSP00000444623:I519S	ENSP00000341280:I557S	I	+	2	0	JARID2	15605105	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.830000	0.62745	1.967000	0.57214	0.418000	0.28097	ATC		0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		G	15497126	T	G	15497126	3	3	85	1	0	0	0	0	1	0	0	0	7945	1435	50	5	1696	5	JARID2	6	15497126	Missense_Mutation	SNP	T	TCGA-13-0793-01A-01W-0370-10	2268921	15497126	155617941	19	4448											
ZNF323	64288	hgsc.bcm.edu	37	6	28294632	28294632	+	Splice_Site	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:28294632C>T	ENST00000414429.1	-	8	1436		c.e8-1		ZSCAN31_ENST00000446474.1_Splice_Site|ZSCAN31_ENST00000344279.6_Splice_Site|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000396838.2_Splice_Site|ZSCAN31_ENST00000439158.1_Splice_Site			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31						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.?(1)									CTTTCACCATCTGGAATAATA	0.348																																																1	Unknown(1)	ovary(1)	6											39	42	41					6																	28294632		2194	4289	6483	28402611	SO:0001630	splice_region_variant	64288				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.533-1G>A	6.37:g.28294632C>T			28402611	Q6P178|Q8WWS5	Splice_Site	SNP	ENST00000414429.1	37	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424037	0.62733	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431;ENST00000453745;ENST00000426434	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0127	0.36150	0.0:0.8981:0.0:0.1019	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF323	28402611	.	.	0.157000	0.22605	0.729000	0.41735	.	.	2.174000	0.68829	0.467000	0.42956	.		0.348	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899	Intron	T	28294632	C	T	28294632	5	4	85	1	0	0	0	0	0	0	1	0	17843	927	32	2	692	2	ZNF323	6	28294632	Splice_Site	SNP	C	TCGA-13-0793-01A-01W-0370-10	12797506	28294632	142820435	20	4449											
ZFP57	4340	hgsc.bcm.edu	37	6	29640709	29640709	+	IGR	SNP	A	A	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:29640709A>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Silent_p.F393F|ZFP57_ENST00000376883.1_Silent_p.F373F|ZFP57_ENST00000376881.3_Silent_p.F373F	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F373F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ATTTCTTGCTAAAAGTCAAAG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	6											307	333	324					6																	29640709		1256	2555	3811	29748688	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640709A>G			29748688	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	CCDS34370.1																																																																																				0.502	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		G	29640709	A	G	29640709	1	3	85	0	1	0	0	0	0	0	0	0	17651	359	13	4		4	ZFP57	6	29640709	IGR	SNP	A	TCGA-13-0793-01A-01W-0370-10	1346077	29640709	141474358	21	4450											
TRIM31	11074	hgsc.bcm.edu	37	6	30080570	30080570	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:30080570G>T	ENST00000376734.3	-	2	138	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.Q5K	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	5					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Q5K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTCACAAACTGCCCACTGGCC	0.517																																																1	Substitution - Missense(1)	ovary(1)	6											63	67	65					6																	30080570		1509	2708	4217	30188549	SO:0001583	missense	11074			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.13C>A	6.37:g.30080570G>T	ENSP00000365924:p.Gln5Lys		30188549	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	G	0.110	-1.139129	0.01742	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.65178	-0.14;-0.14	3.96	-1.83	0.07833	Zinc finger, RING/FYVE/PHD-type (1);	2.060940	0.02976	N	0.144945	T	0.11367	0.0277	N	0.03967	-0.31	0.09310	N	1	B	0.19073	0.033	B	0.15870	0.014	T	0.02668	-1.1126	10	0.12766	T	0.61	.	3.347	0.07139	0.0813:0.2225:0.3578:0.3383	.	5	Q9BZY9	TRI31_HUMAN	K	5	ENSP00000365924:Q5K;ENSP00000444311:Q5K	ENSP00000365918:Q5K	Q	-	1	0	TRIM31	30188549	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.580000	0.02121	-0.966000	0.03587	-1.193000	0.01689	CAG		0.517	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			T	30080570	G	T	30080570	3	4	85	1	0	0	0	0	1	0	0	0	16505	1328	46	3	1296	3	TRIM31	6	30080570	Missense_Mutation	SNP	G	TCGA-13-0793-01A-01W-0370-10	439861	30080570	141034497	22	4451											
DAXX	1616	hgsc.bcm.edu	37	6	33287496	33287496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:33287496G>T	ENST00000374542.5	-	6	1805	c.1601C>A	c.(1600-1602)tCa>tAa	p.S534*	ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Nonsense_Mutation_p.S459*|DAXX_ENST00000266000.6_Nonsense_Mutation_p.S534*|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	534	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.S534*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGGTTCTTCTGACAGTAACGA	0.512			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	1	Substitution - Nonsense(1)	ovary(1)	6											108	96	100					6																	33287496		2203	4300	6503	33395474	SO:0001587	stop_gained	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1601C>A	6.37:g.33287496G>T	ENSP00000363668:p.Ser534*		33395474	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Nonsense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012293	0.54468	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.69	-2.22	0.06952	.	1.603610	0.04160	N	0.322905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	1.2301	4.4603	0.11663	0.3949:0.0:0.4435:0.1617	.	.	.	.	X	534;534;459	.	ENSP00000266000:S534X	S	-	2	0	DAXX	33395474	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.040000	0.12104	-0.233000	0.09797	-0.275000	0.10095	TCA		0.512	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			T	33287496	G	T	33287496	4	4	85	1	0	0	0	0	0	1	0	0	4243	1294	45	3	633	3	DAXX	6	33287496	Nonsense_Mutation	SNP	G	TCGA-13-0793-01A-01W-0370-10	3206926	33287496	137827571	23	4452											
CASP8AP2	9994	hgsc.bcm.edu	37	6	90572022	90572022	+	RNA	SNP	G	G	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:90572022G>A	ENST00000551025.1	+	0	2031									caspase 8 associated protein 2									p.L198L(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGCCAAATCTGGAAAAGGAAG	0.373																																					Colon(187;1656 2025 17045 31481 39901)											1	Substitution - coding silent(1)	ovary(1)	6											203	188	193					6																	90572022		1892	4114	6006	90628743			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572022G>A			90628743		Silent	SNP	ENST00000551025.1	37																																																																																					0.373	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		A	90572022	G	A	90572022	1	1	85	0	1	0	0	0	0	0	0	0	2678	1335	47	2		2	CASP8AP2	6	90572022	RNA	SNP	G	TCGA-13-0793-01A-01W-0370-10	57284526	90572022	80543045	24	4453											
DDO	8528	hgsc.bcm.edu	37	6	110714241	110714241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:110714241delG	ENST00000368924.3	-	5	862	c.847delC	c.(847-849)cttfs	p.L283fs	DDO_ENST00000368923.3_Frame_Shift_Del_p.L224fs	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	255					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.L283fs*23(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CATCGGGAAAGAATCTCTCTG	0.547																																																1	Deletion - Frameshift(1)	ovary(1)	6											154	158	157					6																	110714241		2203	4300	6503	110820934	SO:0001589	frameshift_variant	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.847delC	6.37:g.110714241delG	ENSP00000357920:p.Leu283fs		110820934	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Frame_Shift_Del	DEL	ENST00000368924.3	37	CCDS5082.1																																																																																				0.547	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			-	110714241	G	-	110714241	7	5	85	1	0	1	0	1	0	0	0	0	4334	942	33	0	266	0	DDO	6	110714241	Frame_Shift_Del	DEL	G	TCGA-13-0793-01A-01W-0370-10	20142219	110714241	60400826	25	4454											
DDO	8528	hgsc.bcm.edu	37	6	110714543	110714543	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:110714543A>C	ENST00000368924.3	-	5	560	c.545T>G	c.(544-546)aTa>aGa	p.I182R	DDO_ENST00000368923.3_Missense_Mutation_p.I123R	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	154					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.I182R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		ACTTCCCTTTATCCTACGGAA	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											81	79	80					6																	110714543		2203	4300	6503	110821236	SO:0001583	missense	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.545T>G	6.37:g.110714543A>C	ENSP00000357920:p.Ile182Arg		110821236	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140483	0.56936	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;T;D	0.81996	-1.56;0.87;-1.56	5.95	5.95	0.96441	.	0.874624	0.10372	N	0.682676	T	0.82171	0.4979	M	0.61703	1.905	0.36139	D	0.846693	P;P	0.47409	0.895;0.797	P;B	0.47705	0.555;0.353	T	0.81980	-0.0684	10	0.56958	D	0.05	0.1284	16.4101	0.83708	1.0:0.0:0.0:0.0	.	123;182	Q99489-4;Q99489-3	.;.	R	182;123;154	ENSP00000357920:I182R;ENSP00000357919:I123R;ENSP00000357921:I154R	ENSP00000357919:I123R	I	-	2	0	DDO	110821236	0.882000	0.30256	0.012000	0.15200	0.005000	0.04900	8.021000	0.88750	2.280000	0.76307	0.460000	0.39030	ATA		0.463	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			C	110714543	A	C	110714543	3	2	85	1	0	0	0	0	1	0	0	0	4334	449	16	5	568	5	DDO	6	110714543	Missense_Mutation	SNP	A	TCGA-13-0793-01A-01W-0370-10	302	110714543	60400524	26	4455											
LAMA4	3910	hgsc.bcm.edu	37	6	112462025	112462025	+	Silent	SNP	A	A	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr6:112462025A>G	ENST00000230538.7	-	22	3310	c.2913T>C	c.(2911-2913)tcT>tcC	p.S971S	LAMA4_ENST00000522006.1_Silent_p.S964S|LAMA4_ENST00000424408.2_Silent_p.S964S|LAMA4_ENST00000389463.4_Silent_p.S964S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	971	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.S964S(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTCCAGCAGAGAGTCATCTC	0.448																																																1	Substitution - coding silent(1)	ovary(1)	6											98	93	95					6																	112462025		2203	4300	6503	112568718	SO:0001819	synonymous_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2913T>C	6.37:g.112462025A>G			112568718	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																				0.448	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		G	112462025	A	G	112462025	2	3	85	1	0	0	0	0	0	0	0	1	8608	291	11	4		4	LAMA4	6	112462025	Silent	SNP	A	TCGA-13-0793-01A-01W-0370-10	1747482	112462025	58653042	27	4456											
SND1	27044	hgsc.bcm.edu	37	7	127727067	127727067	+	Silent	SNP	G	G	C			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr7:127727067G>C	ENST00000354725.3	+	21	2576	c.2382G>C	c.(2380-2382)acG>acC	p.T794T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	794					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.T794T(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTCAAGCCACGGAGTATGCCT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	7											122	91	102					7																	127727067		2203	4300	6503	127514303	SO:0001819	synonymous_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2382G>C	7.37:g.127727067G>C			127514303	Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	CCDS34747.1																																																																																				0.597	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		C	127727067	G	C	127727067	2	2	85	1	0	0	0	0	0	0	0	1	14847	1103	39	3		3	SND1	7	127727067	Silent	SNP	G	TCGA-13-0793-01A-01W-0370-10		127727067	31411596	28	4457											
CPA5	93979	hgsc.bcm.edu	37	7	129989834	129989834	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr7:129989834C>T	ENST00000485477.1	+	4	1346	c.217C>T	c.(217-219)Cca>Tca	p.P73S	CPA5_ENST00000393213.3_Missense_Mutation_p.P73S|CPA5_ENST00000474905.1_Missense_Mutation_p.P73S|CPA5_ENST00000461828.1_Missense_Mutation_p.P73S|CPA5_ENST00000355388.3_Missense_Mutation_p.P73S|CPA5_ENST00000431780.2_Missense_Mutation_p.P73S|CPA5_ENST00000466363.2_Missense_Mutation_p.P73S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	73						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.P73S(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTGGCGTGGCCCAGCCAGGCC	0.507																																																1	Substitution - Missense(1)	ovary(1)	7											126	130	129					7																	129989834		2203	4300	6503	129777070	SO:0001583	missense	93979			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.217C>T	7.37:g.129989834C>T	ENSP00000420237:p.Pro73Ser		129777070	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942783	0.73672	.	.	ENSG00000158525	ENST00000355388;ENST00000463587;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.76	5.76	0.90799	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.109437	0.41396	D	0.000900	T	0.51652	0.1687	M	0.92317	3.295	0.40812	D	0.983433	D;D	0.89917	0.999;1.0	D;D	0.74674	0.973;0.984	T	0.62987	-0.6737	9	.	.	.	.	15.4858	0.75564	0.0:1.0:0.0:0.0	.	73;73	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	S	73	ENSP00000347549:P73S;ENSP00000420060:P73S;ENSP00000418183:P73S;ENSP00000419025:P73S;ENSP00000420237:P73S;ENSP00000393045:P73S;ENSP00000417314:P73S;ENSP00000376907:P73S	.	P	+	1	0	CPA5	129777070	0.950000	0.32346	0.996000	0.52242	0.835000	0.47333	4.387000	0.59626	2.706000	0.92434	0.655000	0.94253	CCA		0.507	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		T	129989834	C	T	129989834	3	4	85	1	0	0	0	0	1	0	0	0	3793	623	22	2	227	2	CPA5	7	129989834	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	2262767	129989834	29148829	29	4458											
PSD3	23362	hgsc.bcm.edu	37	8	18430097	18430097	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr8:18430097C>T	ENST00000327040.8	-	14	2827	c.2725G>A	c.(2725-2727)Ggc>Agc	p.G909S	PSD3_ENST00000523619.1_Missense_Mutation_p.G844S|PSD3_ENST00000440756.2_Missense_Mutation_p.G911S|PSD3_ENST00000428502.2_Missense_Mutation_p.G238S|PSD3_ENST00000286485.8_Missense_Mutation_p.G375S	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	910					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G375S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTGAGAGCCGATTGCTGCT	0.443																																																1	Substitution - Missense(1)	ovary(1)	8											150	153	152					8																	18430097		2203	4300	6503	18474377	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2725G>A	8.37:g.18430097C>T	ENSP00000324127:p.Gly909Ser		18474377	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962702	0.92791	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.71	5.71	0.89125	.	0.286010	0.20603	U	0.089119	T	0.78470	0.4288	L	0.39566	1.225	0.80722	D	1	P;D;D;P	0.56968	0.95;0.978;0.974;0.681	P;P;P;B	0.52386	0.697;0.697;0.697;0.088	T	0.73257	-0.4040	10	0.22109	T	0.4	.	17.7136	0.88328	0.0:1.0:0.0:0.0	.	909;910;375;238	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	S	909;911;375;238;844	ENSP00000324127:G909S;ENSP00000401704:G911S;ENSP00000286485:G375S;ENSP00000393228:G238S;ENSP00000430640:G844S	ENSP00000286485:G375S	G	-	1	0	PSD3	18474377	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.861000	0.98227	0.650000	0.86243	GGC		0.443	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		T	18430097	C	T	18430097	3	4	85	1	0	0	0	0	1	0	0	0	12651	652	23	1	430	1	PSD3	8	18430097	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10		18430097	127933925	30	4459											
XPO7	23039	hgsc.bcm.edu	37	8	21856607	21856607	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr8:21856607C>T	ENST00000252512.9	+	23	2534	c.2434C>T	c.(2434-2436)Cgc>Tgc	p.R812C	XPO7_ENST00000434536.1_Missense_Mutation_p.R821C|XPO7_ENST00000433566.4_Missense_Mutation_p.R813C	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	812					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.R812C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CTCAGGCAATCGCATCCTGAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	8											174	164	167					8																	21856607		2013	4189	6202	21912553	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2434C>T	8.37:g.21856607C>T	ENSP00000252512:p.Arg812Cys		21912553	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436565	0.62955	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.64085	-0.08;-0.08;-0.08	5.87	5.87	0.94306	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	L	0.58510	1.815	0.80722	D	1	B;B;B	0.29481	0.11;0.245;0.245	B;B;B	0.23852	0.032;0.049;0.049	T	0.54964	-0.8214	10	0.36615	T	0.2	-11.3613	14.6251	0.68616	0.1457:0.8543:0.0:0.0	.	813;821;812	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	C	821;812;813	ENSP00000404853:R821C;ENSP00000252512:R812C;ENSP00000410249:R813C	ENSP00000252512:R812C	R	+	1	0	XPO7	21912553	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.930000	0.70104	2.779000	0.95612	0.655000	0.94253	CGC		0.478	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		T	21856607	C	T	21856607	3	4	85	1	0	0	0	0	1	0	0	0	17449	884	31	1	2576	1	XPO7	8	21856607	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	3426510	21856607	124507415	31	4460											
PKIA	5569	hgsc.bcm.edu	37	8	79510670	79510670	+	Silent	SNP	A	A	C			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr8:79510670A>C	ENST00000396418.2	+	3	537	c.51A>C	c.(49-51)acA>acC	p.T17T	PKIA_ENST00000518467.1_Silent_p.T17T|PKIA_ENST00000352966.5_Silent_p.T17T	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	17					negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)	p.T17T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						CAGGAAGAACAGGTAGAAGAA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	8											155	144	148					8																	79510670		2203	4300	6503	79673225	SO:0001819	synonymous_variant	5569			S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.51A>C	8.37:g.79510670A>C			79673225	P04541|Q6IAV2	Silent	SNP	ENST00000396418.2	37	CCDS6222.1																																																																																				0.373	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379420.1			C	79510670	A	C	79510670	2	2	85	1	0	0	0	0	0	0	0	1	11973	175	7	5		5	PKIA	8	79510670	Silent	SNP	A	TCGA-13-0793-01A-01W-0370-10	57654063	79510670	66853352	32	4461											
RBM12B	389677	hgsc.bcm.edu	37	8	94746629	94746629	+	Silent	SNP	T	T	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr8:94746629T>G	ENST00000399300.2	-	3	2223	c.2010A>C	c.(2008-2010)ccA>ccC	p.P670P	RBM12B_ENST00000517700.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	670							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P670P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTCAGGTGGCCGCCTGA	0.642																																																1	Substitution - coding silent(1)	ovary(1)	8											78	82	81					8																	94746629		1852	4082	5934	94815805	SO:0001819	synonymous_variant	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2010A>C	8.37:g.94746629T>G			94815805	A8MYB5	Silent	SNP	ENST00000399300.2	37	CCDS43755.1																																																																																				0.642	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		G	94746629	T	G	94746629	2	3	85	1	0	0	0	0	0	0	0	1	13117	1683	59	5		5	RBM12B	8	94746629	Silent	SNP	T	TCGA-13-0793-01A-01W-0370-10	15235959	94746629	51617393	33	4462											
CSMD3	114788	hgsc.bcm.edu	37	8	113988234	113988234	+	Missense_Mutation	SNP	C	C	T	rs557572936		TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr8:113988234C>T	ENST00000297405.5	-	7	1418	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E352K|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.E392K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	392						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E392K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGCTGTTCCTCGGAAAGTCTA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0	0	5008	,	,		17209	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	8											203	178	186					8																	113988234		2203	4300	6503	114057410	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1174G>A	8.37:g.113988234C>T	ENSP00000297405:p.Glu392Lys		114057410	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919931	0.73098	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.18338	2.22;2.22;2.22	6.17	6.17	0.99709	.	0.177149	0.36268	N	0.002692	T	0.26846	0.0657	N	0.22421	0.69	0.36807	D	0.885667	D;D	0.65815	0.992;0.995	D;D	0.70716	0.935;0.97	T	0.01753	-1.1281	10	0.05959	T	0.93	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	392;352	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	K	352;392;392	ENSP00000345799:E352K;ENSP00000297405:E392K;ENSP00000343124:E392K	ENSP00000297405:E392K	E	-	1	0	CSMD3	114057410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.685000	0.54678	2.941000	0.99782	0.655000	0.94253	GAG		0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113988234	C	T	113988234	3	4	85	1	0	0	0	0	1	0	0	0	3946	893	31	1	10209	1	CSMD3	8	113988234	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	19241605	113988234	32375788	34	4463											
TRAF1	7185	hgsc.bcm.edu	37	9	123673704	123673704	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr9:123673704A>C	ENST00000373887.3	-	6	3238	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V	TRAF1_ENST00000540010.1_Missense_Mutation_p.F265V|TRAF1_ENST00000546084.1_Missense_Mutation_p.F143V	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	265					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F265V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GTGCCATCGAAGGAGGCCTCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	9											61	51	55					9																	123673704		2203	4300	6503	122713525	SO:0001583	missense	7185			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.793T>G	9.37:g.123673704A>C	ENSP00000362994:p.Phe265Val		122713525	B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646539	0.67358	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.42900	1.55;1.55;0.96	4.49	4.49	0.54785	TRAF-type (1);TRAF-like (1);	0.695046	0.14069	N	0.343513	T	0.34978	0.0916	L	0.38175	1.15	0.41661	D	0.989184	B	0.23540	0.087	B	0.20184	0.028	T	0.13522	-1.0506	10	0.40728	T	0.16	-13.8145	13.2672	0.60141	1.0:0.0:0.0:0.0	.	265	Q13077	TRAF1_HUMAN	V	265;265;143	ENSP00000362994:F265V;ENSP00000443183:F265V;ENSP00000438583:F143V	ENSP00000362994:F265V	F	-	1	0	TRAF1	122713525	1.000000	0.71417	0.925000	0.36789	0.952000	0.60782	9.187000	0.94912	1.785000	0.52413	0.460000	0.39030	TTC		0.612	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		C	123673704	A	C	123673704	3	2	85	1	0	0	0	0	1	0	0	0	16437	72	3	5	469	5	TRAF1	9	123673704	Missense_Mutation	SNP	A	TCGA-13-0793-01A-01W-0370-10		123673704	17539727	35	4464											
C9orf171	389799	hgsc.bcm.edu	37	9	135374837	135374837	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr9:135374837G>A	ENST00000343036.2	+	4	530	c.482G>A	c.(481-483)cGc>cAc	p.R161H	C9orf171_ENST00000393215.3_Missense_Mutation_p.R125H|C9orf171_ENST00000393216.2_Missense_Mutation_p.R125H	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	161								p.R161H(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GCAATGAACCGCGGGGCGGTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	9											71	73	72					9																	135374837		2203	4300	6503	134364658	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.482G>A	9.37:g.135374837G>A	ENSP00000343290:p.Arg161His		134364658	Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989235	0.53934	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.28895	1.59;1.59;1.59	5.26	4.35	0.52113	.	0.144779	0.41500	D	0.000868	T	0.48003	0.1476	L	0.55990	1.75	0.36580	D	0.873509	D;D	0.89917	1.0;1.0	D;D	0.70016	0.95;0.967	T	0.56141	-0.8028	10	0.66056	D	0.02	.	12.7147	0.57109	0.0797:0.0:0.9202:0.0	.	125;161	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	H	125;161;125	ENSP00000376908:R125H;ENSP00000343290:R161H;ENSP00000376909:R125H	ENSP00000343290:R161H	R	+	2	0	C9orf171	134364658	0.999000	0.42202	0.934000	0.37439	0.027000	0.11550	3.858000	0.55979	2.618000	0.88619	0.561000	0.74099	CGC		0.617	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		A	135374837	G	A	135374837	3	1	85	1	0	0	0	0	1	0	0	0	2470	1087	38	1	496	1	C9orf171	9	135374837	Missense_Mutation	SNP	G	TCGA-13-0793-01A-01W-0370-10	11701133	135374837	5838594	36	4465											
FAM188A	80013	hgsc.bcm.edu	37	10	15876568	15876568	+	Silent	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr10:15876568C>T	ENST00000277632.3	-	7	844	c.624G>A	c.(622-624)ttG>ttA	p.L208L	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	208					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L208L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CAGGATCTATCAAGGGTTCAC	0.308																																					Pancreas(159;946 1953 2111 4475 22008)											1	Substitution - coding silent(1)	ovary(1)	10											187	175	179					10																	15876568		2203	4300	6503	15916574	SO:0001819	synonymous_variant	80013			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"caspase recruitment domain containing pro-apoptotic protein", "CARD-containing protein"	611649	"chromosome 10 open reading frame 97"	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.624G>A	10.37:g.15876568C>T			15916574	Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Silent	SNP	ENST00000277632.3	37	CCDS7110.1																																																																																				0.308	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		T	15876568	C	T	15876568	2	4	85	1	0	0	0	0	0	0	0	1	5514	825	29	2		2	FAM188A	10	15876568	Silent	SNP	C	TCGA-13-0793-01A-01W-0370-10		15876568	119658179	37	4466											
C10orf12	26148	hgsc.bcm.edu	37	10	98742724	98742724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr10:98742724C>A	ENST00000286067.2	+	1	1684	c.1577C>A	c.(1576-1578)tCa>tAa	p.S526*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	526								p.S526*(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATCAGAGTTCAGATTCTTCC	0.423																																																1	Substitution - Nonsense(1)	ovary(1)	10											73	81	78					10																	98742724		2202	4300	6502	98732714	SO:0001587	stop_gained	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1577C>A	10.37:g.98742724C>A	ENSP00000286067:p.Ser526*		98732714	Q9H945|Q9Y457	Nonsense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154901	0.78114	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	.	.	.	5.65	2.76	0.32466	.	1.534790	0.04737	U	0.422082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1581	8.7775	0.34771	0.0:0.7633:0.0:0.2367	.	.	.	.	X	526;360	.	ENSP00000286067:S526X	S	+	2	0	C10orf12	98732714	0.148000	0.22702	0.954000	0.39281	0.082000	0.17680	1.074000	0.30703	0.319000	0.23209	0.561000	0.74099	TCA		0.423	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		A	98742724	C	A	98742724	4	1	85	1	0	0	0	0	0	1	0	0	1589	838	29	3	1579	3	C10orf12	10	98742724	Nonsense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	82866156	98742724	36792023	38	4467											
COPB1	1315	hgsc.bcm.edu	37	11	14498516	14498516	+	Silent	SNP	G	G	C			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr11:14498516G>C	ENST00000249923.3	-	12	1704	c.1404C>G	c.(1402-1404)acC>acG	p.T468T	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000526191.1_5'Flank|COPB1_ENST00000439561.2_Silent_p.T468T	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	468					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.T468T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGTCTTCCTTGGTACTACAGT	0.393																																																1	Substitution - coding silent(1)	ovary(1)	11											180	165	170					11																	14498516		2200	4294	6494	14455092	SO:0001819	synonymous_variant	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1404C>G	11.37:g.14498516G>C			14455092	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	CCDS7815.1																																																																																				0.393	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		C	14498516	G	C	14498516	2	2	85	1	0	0	0	0	0	0	0	1	3728	1335	47	3		3	COPB1	11	14498516	Silent	SNP	G	TCGA-13-0793-01A-01W-0370-10		14498516	120508000	39	4468											
CLP1	10978	hgsc.bcm.edu	37	11	57427143	57427143	+	Silent	SNP	T	T	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr11:57427143T>A	ENST00000302731.4	+	2	315	c.195T>A	c.(193-195)gtT>gtA	p.V65V	CLP1_ENST00000525602.1_Silent_p.V65V|CLP1_ENST00000533682.1_Silent_p.V65V|CLP1_ENST00000529430.1_Silent_p.V76V	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.V65V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AGGTGGCTGTTTTCACTTGGC	0.507																																																1	Substitution - coding silent(1)	ovary(1)	11											96	89	91					11																	57427143		2201	4296	6497	57183719	SO:0001819	synonymous_variant	10978			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.195T>A	11.37:g.57427143T>A			57183719	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000302731.4	37	CCDS44600.1																																																																																				0.507	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831		A	57427143	T	A	57427143	2	1	85	1	0	0	0	0	0	0	0	1	3550	1828	64	5		5	CLP1	11	57427143	Silent	SNP	T	TCGA-13-0793-01A-01W-0370-10	42928627	57427143	77579373	40	4469											
FCHSD2	9873	hgsc.bcm.edu	37	11	72712057	72712057	+	Frame_Shift_Del	DEL	A	A	-	rs188531590		TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr11:72712057delA	ENST00000409418.4	-	5	748	c.365delT	c.(364-366)ttafs	p.L122fs	FCHSD2_ENST00000458644.2_Intron|FCHSD2_ENST00000409853.1_Frame_Shift_Del_p.L66fs|FCHSD2_ENST00000409314.1_Frame_Shift_Del_p.L122fs|FCHSD2_ENST00000311172.7_Frame_Shift_Del_p.L66fs	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	122								p.L66fs*1(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTGTTCTTTTAAGCTTCTCAC	0.348																																																1	Deletion - Frameshift(1)	ovary(1)	11											70	72	71					11																	72712057		2200	4293	6493	72389705	SO:0001589	frameshift_variant	9873			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.365delT	11.37:g.72712057delA	ENSP00000386722:p.Leu122fs		72389705	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Frame_Shift_Del	DEL	ENST00000409418.4	37	CCDS8218.2																																																																																				0.348	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		-	72712057	A	-	72712057	7	5	85	1	0	1	0	1	0	0	0	0	5790	372	13	0	1921	0	FCHSD2	11	72712057	Frame_Shift_Del	DEL	A	TCGA-13-0793-01A-01W-0370-10	15284914	72712057	62294459	41	4470											
SIK3	23387	hgsc.bcm.edu	37	11	116730109	116730109	+	Silent	SNP	G	G	A	rs568332064		TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr11:116730109G>A	ENST00000292055.4	-	19	2354	c.2319C>T	c.(2317-2319)cgC>cgT	p.R773R	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.R773R|SIK3_ENST00000375288.1_Silent_p.R168R|SIK3_ENST00000375300.1_Silent_p.R831R|SIK3_ENST00000446921.2_Silent_p.R831R|SIK3_ENST00000434315.2_Silent_p.R672R	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	773	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R879R(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGGAGATGCCGCGCCCACTGG	0.607											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0	0	5008	,	,		19437	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	11											85	71	76					11																	116730109		2201	4296	6497	116235319	SO:0001819	synonymous_variant	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2319C>T	11.37:g.116730109G>A		1475	116235319	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	7.657	0.684036	0.14907	.	.	ENSG00000160584	ENST00000445177;ENST00000446921	T	0.73258	-0.73	5.43	2.43	0.29744	.	0.000000	0.38111	U	0.001816	T	0.74145	0.3678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72067	-0.4402	7	0.87932	D	0	.	7.8491	0.29444	0.0:0.6033:0.3089:0.0878	.	.	.	.	W	873;796	ENSP00000391295:R873W	ENSP00000391295:R873W	R	-	1	2	SIK3	116235319	0.285000	0.24296	0.749000	0.31150	0.815000	0.46073	-0.095000	0.11077	0.209000	0.20645	-0.234000	0.12200	CGG		0.607	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		A	116730109	G	A	116730109	2	1	85	1	0	0	0	0	0	0	0	1	14322	1074	38	1		1	SIK3	11	116730109	Silent	SNP	G	TCGA-13-0793-01A-01W-0370-10	44018052	116730109	18276407	42	4471											
CD163	9332	hgsc.bcm.edu	37	12	7636010	7636010	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr12:7636010C>T	ENST00000359156.4	-	12	3243	c.3041G>A	c.(3040-3042)gGc>gAc	p.G1014D	CD163_ENST00000396620.3_Missense_Mutation_p.G1047D|CD163_ENST00000541972.1_Missense_Mutation_p.G1002D|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.G1014D	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1014	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G1014D(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTCACTATGGCCCCAGCGTCT	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											111	97	102					12																	7636010		2203	4300	6503	7527277	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3041G>A	12.37:g.7636010C>T	ENSP00000352071:p.Gly1014Asp		7527277	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.80|18.80	3.700059|3.700059	0.68501|0.68501	.|.	.|.	ENSG00000177575|ENSG00000177575	ENST00000537626|ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237	.|T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;0.63;0.63	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.|0.371003	.|0.25854	.|N	.|0.027878	T|T	0.67785|0.67785	0.2930|0.2930	M|M	0.85041|0.85041	2.73|2.73	0.34179|0.34179	D|D	0.670747|0.670747	.|D;D;D	.|0.71674	.|0.998;0.998;0.998	.|D;D;D	.|0.70935	.|0.971;0.939;0.942	T|T	0.75915|0.75915	-0.3149|-0.3149	5|10	.|0.35671	.|T	.|0.21	.|.	10.4935|10.4935	0.44764|0.44764	0.0:0.9112:0.0:0.0887|0.0:0.9112:0.0:0.0887	.|.	.|1047;1014;1014	.|C9JHR8;Q86VB7-3;Q86VB7	.|.;.;C163A_HUMAN	T|D	27|1014;54;1002;1047;1014	.|ENSP00000352071:G1014D;ENSP00000445438:G54D;ENSP00000444071:G1002D;ENSP00000379863:G1047D;ENSP00000403885:G1014D	.|ENSP00000352071:G1014D	A|G	-|-	1|2	0|0	CD163|CD163	7527277|7527277	0.039000|0.039000	0.19947|0.19947	0.997000|0.997000	0.53966|0.53966	0.871000|0.871000	0.50021|0.50021	0.833000|0.833000	0.27504|0.27504	2.707000|2.707000	0.92482|0.92482	0.555000|0.555000	0.69702|0.69702	GCC|GGC		0.532	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		T	7636010	C	T	7636010	3	4	85	1	0	0	0	0	1	0	0	0	2967	739	26	2	449	2	CD163	12	7636010	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10		7636010	126215885	43	4472											
ITPR2	3709	hgsc.bcm.edu	37	12	26835542	26835542	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr12:26835542T>C	ENST00000381340.3	-	12	1629	c.1213A>G	c.(1213-1215)Ata>Gta	p.I405V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	405	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.I405V(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTGTGTCTATGGGGATACTA	0.348																																																1	Substitution - Missense(1)	ovary(1)	12											162	145	151					12																	26835542		1881	4101	5982	26726809	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1213A>G	12.37:g.26835542T>C	ENSP00000370744:p.Ile405Val		26726809	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574573	0.86542	.	.	ENSG00000123104	ENST00000381340	D	0.86769	-2.17	4.64	4.64	0.57946	MIR motif (1);MIR (2);	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	M	0.85542	2.76	0.80722	D	1	P	0.52692	0.955	P	0.61070	0.883	D	0.92050	0.5647	10	0.33141	T	0.24	.	14.2394	0.65948	0.0:0.0:0.0:1.0	.	405	Q14571	ITPR2_HUMAN	V	405	ENSP00000370744:I405V	ENSP00000370744:I405V	I	-	1	0	ITPR2	26726809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.744000	0.85034	1.938000	0.56188	0.455000	0.32223	ATA		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26835542	T	C	26835542	3	2	85	1	0	0	0	0	1	0	0	0	7921	1464	51	4	7076	4	ITPR2	12	26835542	Missense_Mutation	SNP	T	TCGA-13-0793-01A-01W-0370-10	19199532	26835542	107016353	44	4473											
MYO1A	4640	hgsc.bcm.edu	37	12	57431359	57431359	+	Silent	SNP	T	T	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr12:57431359T>A	ENST00000442789.2	-	20	2315	c.2028A>T	c.(2026-2028)acA>acT	p.T676T	MYO1A_ENST00000544473.1_Silent_p.T514T|MYO1A_ENST00000300119.3_Silent_p.T676T|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	676	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T676T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGAAGATCTTTGTCTTGCCAA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	12											274	286	282					12																	57431359		2203	4300	6503	55717626	SO:0001819	synonymous_variant	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2028A>T	12.37:g.57431359T>A			55717626	Q9UQD7	Silent	SNP	ENST00000442789.2	37	CCDS8929.1																																																																																				0.537	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		A	57431359	T	A	57431359	2	1	85	1	0	0	0	0	0	0	0	1	10068	1799	63	5		5	MYO1A	12	57431359	Silent	SNP	T	TCGA-13-0793-01A-01W-0370-10	30595817	57431359	76420536	45	4474											
THSD1	55901	hgsc.bcm.edu	37	13	52971791	52971791	+	Silent	SNP	A	A	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr13:52971791A>T	ENST00000258613.4	-	3	775	c.597T>A	c.(595-597)ggT>ggA	p.G199G	THSD1_ENST00000349258.4_Silent_p.G199G|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	199					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.G199G(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAACCCACTGACCTTGAGCAA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	13											91	74	80					13																	52971791		2203	4300	6503	51869792	SO:0001819	synonymous_variant	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.597T>A	13.37:g.52971791A>T			51869792	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	CCDS9432.1																																																																																				0.512	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			T	52971791	A	T	52971791	2	4	85	1	0	0	0	0	0	0	0	1	15877	262	10	5		5	THSD1	13	52971791	Silent	SNP	A	TCGA-13-0793-01A-01W-0370-10		52971791	62198087	46	4475											
KHNYN	23351	hgsc.bcm.edu	37	14	24906241	24906241	+	Splice_Site	SNP	G	G	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr14:24906241G>T	ENST00000251343.5	+	8	1926		c.e8-1		KHNYN_ENST00000554268.1_Splice_Site|KHNYN_ENST00000553935.1_Splice_Site|KHNYN_ENST00000556842.1_Splice_Site			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)	p.?(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TTTCTTCCCAGGACACAGGGG	0.507											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Unknown(1)	ovary(1)	14											115	123	120					14																	24906241		2203	4300	6503	23976081	SO:0001630	splice_region_variant	23351			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1788-1G>T	14.37:g.24906241G>T		775	23976081	Q86TZ6|Q8IUQ2|Q96BA9	Splice_Site	SNP	ENST00000251343.5	37	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603067	0.28534	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000554268	.	.	.	4.8	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7818	0.40653	0.0:0.0:0.7947:0.2053	.	.	.	.	.	-1	.	.	.	+	.	.	KHNYN	23976081	1.000000	0.71417	0.835000	0.33067	0.030000	0.12068	2.614000	0.46359	2.655000	0.90218	0.557000	0.71058	.		0.507	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1		Intron	T	24906241	G	T	24906241	5	4	85	1	0	0	0	0	0	0	1	0	8150	1014	35	3	1813	3	KHNYN	14	24906241	Splice_Site	SNP	G	TCGA-13-0793-01A-01W-0370-10		24906241	82443299	47	4476											
BAZ1A	11177	hgsc.bcm.edu	37	14	35263993	35263993	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr14:35263993A>G	ENST00000382422.2	-	10	1652	c.1325T>C	c.(1324-1326)tTt>tCt	p.F442S	BAZ1A_ENST00000360310.1_Missense_Mutation_p.F442S|BAZ1A_ENST00000358716.4_Missense_Mutation_p.F442S			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	442	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.F442S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTGAAGATCAAAAAGTTCCCC	0.378																																																1	Substitution - Missense(1)	ovary(1)	14											97	93	94					14																	35263993		2203	4300	6503	34333744	SO:0001583	missense	11177			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1325T>C	14.37:g.35263993A>G	ENSP00000371859:p.Phe442Ser		34333744	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872418	0.91587	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	D;D;D	0.89196	-2.48;-2.48;-2.48	5.92	5.92	0.95590	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	0.049917	0.85682	D	0.000000	D	0.93184	0.7829	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.951;0.979	D	0.93775	0.7078	10	0.87932	D	0	.	16.3593	0.83251	1.0:0.0:0.0:0.0	.	442;442	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	S	442;442;442;126	ENSP00000351555:F442S;ENSP00000371859:F442S;ENSP00000353458:F442S	ENSP00000351555:F442S	F	-	2	0	BAZ1A	34333744	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.282000	0.95840	2.267000	0.75376	0.383000	0.25322	TTT		0.378	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			G	35263993	A	G	35263993	3	3	85	1	0	0	0	0	1	0	0	0	1329	14	1	4	3413	4	BAZ1A	14	35263993	Missense_Mutation	SNP	A	TCGA-13-0793-01A-01W-0370-10	10357752	35263993	72085547	48	4477											
MDGA2	161357	hgsc.bcm.edu	37	14	47530616	47530616	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr14:47530616C>T	ENST00000399232.2	-	7	1518	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	MDGA2_ENST00000439988.3_Missense_Mutation_p.R454Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q|MDGA2_ENST00000426342.1_Missense_Mutation_p.R156Q	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R156Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATGACCATCCGCTCAGAACT	0.418																																																1	Substitution - Missense(1)	ovary(1)	14											158	142	147					14																	47530616		1897	4112	6009	46600366	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1154G>A	14.37:g.47530616C>T	ENSP00000382178:p.Arg385Gln		46600366	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	C	33	5.282825	0.95489	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	U	0.000235	T	0.70928	0.3280	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73930	-0.3827	10	0.87932	D	0	.	18.2795	0.90094	0.0:1.0:0.0:0.0	.	385	Q7Z553	MDGA2_HUMAN	Q	385;156;454;156	ENSP00000400011:R385Q;ENSP00000405456:R156Q;ENSP00000382178:R454Q;ENSP00000349925:R156Q	ENSP00000349925:R156Q	R	-	2	0	MDGA2	46600366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.658000	0.90341	0.655000	0.94253	CGG		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		T	47530616	C	T	47530616	3	4	85	1	0	0	0	0	1	0	0	0	9407	652	23	1	1760	1	MDGA2	14	47530616	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	12266623	47530616	59818924	49	4478											
ZNF592	9640	hgsc.bcm.edu	37	15	85342375	85342375	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr15:85342375C>A	ENST00000560079.2	+	9	3359	c.3071C>A	c.(3070-3072)aCc>aAc	p.T1024N	ZNF592_ENST00000299927.3_Missense_Mutation_p.T1024N	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1024					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1024N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCTTCCACACCCCCAACAGC	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											254	230	238					15																	85342375		2203	4299	6502	83143379	SO:0001583	missense	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3071C>A	15.37:g.85342375C>A	ENSP00000452877:p.Thr1024Asn		83143379	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943187	0.53079	.	.	ENSG00000166716	ENST00000299927	T	0.53206	0.63	5.07	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.170486	0.53938	N	0.000057	T	0.30386	0.0763	N	0.13198	0.31	0.32130	N	0.586896	B	0.10296	0.003	B	0.09377	0.004	T	0.29274	-1.0017	10	0.37606	T	0.19	-19.2852	12.1911	0.54273	0.178:0.822:0.0:0.0	.	1024	Q92610	ZN592_HUMAN	N	1024	ENSP00000299927:T1024N	ENSP00000299927:T1024N	T	+	2	0	ZNF592	83143379	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.747000	0.62141	1.292000	0.44672	0.655000	0.94253	ACC		0.527	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		A	85342375	C	A	85342375	3	1	85	1	0	0	0	0	1	0	0	0	18022	507	18	3	3093	3	ZNF592	15	85342375	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10		85342375	17189017	50	4479											
SMG6	23293	hgsc.bcm.edu	37	17	2203200	2203200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr17:2203200G>A	ENST00000263073.6	-	2	897	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	SMG6_ENST00000544865.1_Nonsense_Mutation_p.Q252*	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	283	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.Q283*(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCTATCCTGTCGGCGGCGG	0.572																																					Melanoma(59;28 1088 11621 25887 46638 50814)											2	Substitution - Nonsense(2)	ovary(2)	17											71	63	65					17																	2203200		2203	4300	6503	2149950	SO:0001587	stop_gained	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.847C>T	17.37:g.2203200G>A	ENSP00000263073:p.Gln283*		2149950	B7Z874|O94837|Q86VH6|Q9UF60	Nonsense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	41	8.992726	0.99029	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	.	.	.	5.35	5.35	0.76521	.	0.552442	0.18250	N	0.146998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-6.836	19.0567	0.93069	0.0:0.0:1.0:0.0	.	.	.	.	X	283;252	.	ENSP00000263073:Q283X	Q	-	1	0	SMG6	2149950	0.984000	0.35163	0.984000	0.44739	0.929000	0.56500	2.028000	0.41088	2.490000	0.84030	0.655000	0.94253	CAG		0.572	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			A	2203200	G	A	2203200	4	1	85	1	0	0	0	0	0	1	0	0	14800	1386	48	2	3484	2	SMG6	17	2203200	Nonsense_Mutation	SNP	G	TCGA-13-0793-01A-01W-0370-10		2203200	78992010	51	4480											
TP53	7157	hgsc.bcm.edu	37	17	7579317	7579317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr17:7579317delA	ENST00000269305.4	-	4	559	c.370delT	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.C124fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C124fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C124fs	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	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C124G(4)|p.C124R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.C124fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124fs*25(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)	CTGACCGTGCAAGTCACAGAC	0.542		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"	28	Deletion - Frameshift(9)|Substitution - Missense(8)|Whole gene deletion(8)|Insertion - Frameshift(2)|Deletion - In frame(1)	ovary(5)|upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(3)|breast(3)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)	17											66	62	63					17																	7579317		2203	4300	6503	7520042	SO:0001589	frameshift_variant	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.370delT	17.37:g.7579317delA	ENSP00000269305:p.Cys124fs		7520042	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579317	A	-	7579317	7	5	85	1	0	1	0	1	0	0	0	0	16381	130	5	0	932	0	TP53	17	7579317	Frame_Shift_Del	DEL	A	TCGA-13-0793-01A-01W-0370-10	5376117	7579317	73615893	52	4481											
TEX14	56155	hgsc.bcm.edu	37	17	56699029	56699029	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr17:56699029C>T	ENST00000240361.8	-	5	621	c.536G>A	c.(535-537)tGt>tAt	p.C179Y	TEX14_ENST00000349033.5_Missense_Mutation_p.C179Y|TEX14_ENST00000389934.3_Missense_Mutation_p.C179Y			Q8IWB6	TEX14_HUMAN	testis expressed 14	179					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.C179Y(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGCCCCCACACCAGGACGG	0.612																																																1	Substitution - Missense(1)	ovary(1)	17											57	52	53					17																	56699029		2203	4300	6503	54054028	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.536G>A	17.37:g.56699029C>T	ENSP00000240361:p.Cys179Tyr		54054028	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	8.512	0.866665	0.17250	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.78595	-1.19;-1.19;-1.15	5.42	4.35	0.52113	.	0.170612	0.41938	D	0.000784	T	0.59824	0.2222	N	0.08118	0	0.24774	N	0.99286	B;B;B	0.16166	0.001;0.016;0.002	B;B;B	0.23716	0.008;0.048;0.018	T	0.53913	-0.8371	10	0.48119	T	0.1	-10.1348	10.7309	0.46096	0.8396:0.1604:0.0:0.0	.	179;179;179	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	179	ENSP00000240361:C179Y;ENSP00000374584:C179Y;ENSP00000268910:C179Y	ENSP00000240361:C179Y	C	-	2	0	TEX14	54054028	0.889000	0.30405	0.999000	0.59377	0.158000	0.22134	3.678000	0.54627	0.994000	0.38892	-0.375000	0.07067	TGT		0.612	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			T	56699029	C	T	56699029	3	4	85	1	0	0	0	0	1	0	0	0	15778	478	17	2	4055	2	TEX14	17	56699029	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	49119712	56699029	24496181	53	4482											
GRB2	2885	hgsc.bcm.edu	37	17	73316548	73316548	+	Silent	SNP	G	G	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr17:73316548G>A	ENST00000392562.1	-	6	1337	c.555C>T	c.(553-555)gtC>gtT	p.V185V	GRB2_ENST00000316804.5_Silent_p.V185V|GRB2_ENST00000392564.1_Silent_p.V185V|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392563.1_Silent_p.V144V|GRB2_ENST00000316615.5_Silent_p.V144V|GRB2_ENST00000578961.1_Missense_Mutation_p.S129L			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	185	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.V185V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	AGTTATCCATGACATGGATAA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	17											112	119	116					17																	73316548		2203	4300	6503	70828143	SO:0001819	synonymous_variant	2885				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"SH2 domain containing"	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.555C>T	17.37:g.73316548G>A			70828143	P29354|Q14450|Q63057|Q63059	Silent	SNP	ENST00000392562.1	37	CCDS11721.1																																																																																				0.562	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			A	73316548	G	A	73316548	2	1	85	1	0	0	0	0	0	0	0	1	6758	1277	45	2		2	GRB2	17	73316548	Silent	SNP	G	TCGA-13-0793-01A-01W-0370-10	16617519	73316548	7878662	54	4483											
PDE4A	5141	hgsc.bcm.edu	37	19	10572644	10572644	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr19:10572644T>A	ENST00000352831.6	+	13	1822	c.1712T>A	c.(1711-1713)cTc>cAc	p.L571H	PDE4A_ENST00000592685.1_Missense_Mutation_p.L549H|PDE4A_ENST00000380702.2_Missense_Mutation_p.L549H|PDE4A_ENST00000440014.2_Missense_Mutation_p.L510H|PDE4A_ENST00000344979.3_Missense_Mutation_p.L332H|PDE4A_ENST00000293683.5_Missense_Mutation_p.L545H	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	571	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.L332H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TCAGGGGTCCTCCTGCTAGAT	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											142	114	124					19																	10572644		2203	4300	6503	10433644	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1712T>A	19.37:g.10572644T>A	ENSP00000270474:p.Leu571His		10433644	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419877	0.83559	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	4.49	4.49	0.54785	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	.	.	.	.	D	0.84215	0.5423	M	0.85945	2.785	0.80722	D	1	D;D;D;P;D	0.89917	0.999;1.0;1.0;0.947;0.974	D;D;D;P;P	0.91635	0.942;0.999;0.998;0.695;0.721	D	0.86539	0.1827	9	0.87932	D	0	.	11.729	0.51726	0.0:0.0:0.0:1.0	.	237;332;510;545;571	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	H	13;549;571;545;510;332;237	ENSP00000370078:L549H;ENSP00000270474:L571H;ENSP00000293683:L545H;ENSP00000394754:L510H;ENSP00000341007:L332H	ENSP00000293683:L545H	L	+	2	0	PDE4A	10433644	1.000000	0.71417	0.973000	0.42090	0.861000	0.49209	7.942000	0.87708	1.675000	0.50919	0.397000	0.26171	CTC		0.602	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			A	10572644	T	A	10572644	3	1	85	1	0	0	0	0	1	0	0	0	11639	1551	54	5	2219	5	PDE4A	19	10572644	Missense_Mutation	SNP	T	TCGA-13-0793-01A-01W-0370-10		10572644	48556339	55	4484											
DPY19L3	147991	hgsc.bcm.edu	37	19	32945861	32945861	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr19:32945861G>A	ENST00000342179.5	+	10	1219	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	DPY19L3_ENST00000392250.2_Missense_Mutation_p.G335E|DPY19L3_ENST00000586987.1_Missense_Mutation_p.G335E	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	335						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.G335E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTGAAAACTGGAAGCTTCCTT	0.249																																																1	Substitution - Missense(1)	ovary(1)	19											70	76	74					19																	32945861		2192	4290	6482	37637701	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1004G>A	19.37:g.32945861G>A	ENSP00000344937:p.Gly335Glu		37637701	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475595	0.84640	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.54279	0.58;0.58	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.74258	2.255	0.58432	D	0.999999	P	0.47484	0.896	P	0.46419	0.516	T	0.55761	-0.8090	10	0.16420	T	0.52	-21.1586	18.8014	0.92018	0.0:0.0:1.0:0.0	.	335	Q6ZPD9	D19L3_HUMAN	E	335	ENSP00000376081:G335E;ENSP00000344937:G335E	ENSP00000315672:G335E	G	+	2	0	DPY19L3	37637701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.040000	0.70980	2.882000	0.98803	0.655000	0.94253	GGA		0.249	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		A	32945861	G	A	32945861	3	1	85	1	0	0	0	0	1	0	0	0	4742	1174	41	2	1038	2	DPY19L3	19	32945861	Missense_Mutation	SNP	G	TCGA-13-0793-01A-01W-0370-10	22373217	32945861	26183122	56	4485											
BCAT2	587	hgsc.bcm.edu	37	19	49309972	49309972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr19:49309972delA	ENST00000316273.6	-	3	114	c.102delT	c.(100-102)gctfs	p.A35fs	BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000598162.1_Frame_Shift_Del_p.A35fs|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000599246.1_Intron	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	35					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)	p.A35fs*7(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GCAGGTCTGCAGCCTGAGGAA	0.547																																																1	Deletion - Frameshift(1)	ovary(1)	19											53	54	54					19																	49309972		2203	4300	6503	54001784	SO:0001589	frameshift_variant	587			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.102delT	19.37:g.49309972delA	ENSP00000322991:p.Ala35fs		54001784	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Frame_Shift_Del	DEL	ENST00000316273.6	37	CCDS12735.1																																																																																				0.547	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			-	49309972	A	-	49309972	7	5	85	1	0	1	0	1	0	0	0	0	1355	175	7	0	1112	0	BCAT2	19	49309972	Frame_Shift_Del	DEL	A	TCGA-13-0793-01A-01W-0370-10	16364111	49309972	9819011	57	4486											
KLK7	5650	hgsc.bcm.edu	37	19	51480921	51480921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr19:51480921G>T	ENST00000391807.1	-	6	734	c.633C>A	c.(631-633)tgC>tgA	p.C211*	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000597707.1_Nonsense_Mutation_p.C139*|KLK7_ENST00000336317.4_Nonsense_Mutation_p.C98*|KLK7_ENST00000595820.1_Nonsense_Mutation_p.C211*	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C211*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GGGTACCTCTGCACACCAACG	0.522																																																1	Substitution - Nonsense(1)	ovary(1)	19											104	92	96					19																	51480921		2203	4300	6503	56172733	SO:0001587	stop_gained	5650			L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"Kallikreins", "Serine peptidases / Serine peptidases"	6368	protein-coding gene	gene with protein product		604438	"kallikrein 7 (chymotryptic, stratum corneum)"	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.633C>A	19.37:g.51480921G>T	ENSP00000375683:p.Cys211*		56172733	A8K0U5|Q8N5N9|Q8NFV7	Nonsense_Mutation	SNP	ENST00000391807.1	37	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	g	39	7.731048	0.98459	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	.	.	.	4.9	3.84	0.44239	.	0.000000	0.36482	U	0.002575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8458	0.52383	0.0922:0.0:0.9078:0.0	.	.	.	.	X	211;211;98	.	ENSP00000304791:C211X	C	-	3	2	KLK7	56172733	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	2.051000	0.41307	2.466000	0.83321	0.448000	0.29417	TGC		0.522	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		T	51480921	G	T	51480921	4	4	85	1	0	0	0	0	0	1	0	0	8409	1311	46	3	132	3	KLK7	19	51480921	Nonsense_Mutation	SNP	G	TCGA-13-0793-01A-01W-0370-10	2170949	51480921	7648062	58	4487											
ZNF8	7554	hgsc.bcm.edu	37	19	58806888	58806888	+	Missense_Mutation	SNP	A	A	G	rs371495271		TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr19:58806888A>G	ENST00000196548.5	+	4	1845	c.1714A>G	c.(1714-1716)Aga>Gga	p.R572G	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.R572G			P17098	ZNF8_HUMAN	zinc finger protein 8	572					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R572G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		ATTTGACATCAGAGAATCCAC	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											48	49	48					19																	58806888		2105	4141	6246	63498700	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1714A>G	19.37:g.58806888A>G	ENSP00000196548:p.Arg572Gly		63498700	Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.976556	0.34848	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.06068	3.35	4.57	3.48	0.39840	.	0.250149	0.28865	N	0.013892	T	0.04497	0.0123	N	0.19112	0.55	0.31198	N	0.70007	B	0.34103	0.437	B	0.30401	0.115	T	0.08700	-1.0709	10	0.87932	D	0	-3.2307	10.1743	0.42929	0.8503:0.0:0.0:0.1497	.	572	P17098	ZNF8_HUMAN	G	572;287	ENSP00000196548:R572G	ENSP00000196548:R572G	R	+	1	2	ZNF8	63498700	0.003000	0.15002	0.128000	0.21923	0.915000	0.54546	1.002000	0.29796	2.058000	0.61347	0.374000	0.22700	AGA		0.438	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		G	58806888	A	G	58806888	3	3	85	1	0	0	0	0	1	0	0	0	18167	180	7	4	1728	4	ZNF8	19	58806888	Missense_Mutation	SNP	A	TCGA-13-0793-01A-01W-0370-10	7325967	58806888	322095	59	4488											
SMC1B	27127	hgsc.bcm.edu	37	22	45798220	45798220	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chr22:45798220C>G	ENST00000357450.4	-	5	846	c.847G>C	c.(847-849)Gaa>Caa	p.E283Q	SMC1B_ENST00000404354.3_Missense_Mutation_p.E283Q	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	283					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.E283Q(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CACTTTAATTCTTTTTCTGTT	0.299																																																1	Substitution - Missense(1)	ovary(1)	22											123	105	110					22																	45798220		1811	4068	5879	44176884	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.847G>C	22.37:g.45798220C>G	ENSP00000350036:p.Glu283Gln		44176884	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539340	0.85917	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.81247	-1.47;3.33	5.9	5.9	0.94986	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000008	D	0.83468	0.5261	L	0.56199	1.76	0.80722	D	1	B;P;P	0.50617	0.387;0.729;0.937	B;B;P	0.51170	0.18;0.439;0.661	T	0.79172	-0.1913	10	0.23302	T	0.38	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	283;283;283	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	Q	283	ENSP00000350036:E283Q;ENSP00000385902:E283Q	ENSP00000350036:E283Q	E	-	1	0	SMC1B	44176884	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.474000	0.60203	2.802000	0.96397	0.650000	0.86243	GAA		0.299	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		G	45798220	C	G	45798220	3	3	85	1	0	0	0	0	1	0	0	0	14785	922	32	3	2944	3	SMC1B	22	45798220	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10		45798220	5506346	60	4489											
CLCN4	1183	hgsc.bcm.edu	37	X	10166092	10166092	+	Silent	SNP	C	C	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chrX:10166092C>A	ENST00000380833.4	+	6	937	c.546C>A	c.(544-546)ggC>ggA	p.G182G	CLCN4_ENST00000380829.1_Silent_p.G182G|CLCN4_ENST00000421085.2_Silent_p.G88G	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	182					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.G182G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGGCTCTGGCATACCAGAGG	0.433																																					Melanoma(74;1050 1296 1576 30544 38374)											1	Substitution - coding silent(1)	ovary(1)	X											174	144	154					X																	10166092		2203	4300	6503	10126092	SO:0001819	synonymous_variant	1183			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.546C>A	X.37:g.10166092C>A			10126092	A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	ENST00000380833.4	37	CCDS14137.1																																																																																				0.433	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			A	10166092	C	A	10166092	2	1	85	1	0	0	0	0	0	0	0	1	3465	697	25	3		3	CLCN4	23	10166092	Silent	SNP	C	TCGA-13-0793-01A-01W-0370-10		10166092	145104468	61	4490											
EBP	10682	hgsc.bcm.edu	37	X	48382320	48382320	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chrX:48382320C>T	ENST00000495186.1	+	2	984	c.161C>T	c.(160-162)gCg>gTg	p.A54V	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	54					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)	p.A54V(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	GGTCGTGCTGCGGTTGTCCCA	0.562																																					Ovarian(41;550 1000 33077 33474 52335)											1	Substitution - Missense(1)	ovary(1)	X											196	163	175					X																	48382320		2203	4300	6503	48267264	SO:0001583	missense	10682			Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"3-beta-hydroxysteroid-delta-8,delta-7-isomerase", "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)", "sterol 8-isomerase"	300205	"emopamil-binding protein (sterol isomerase)"	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.161C>T	X.37:g.48382320C>T	ENSP00000417052:p.Ala54Val		48267264	Q6FGL3|Q6IBI9	Missense_Mutation	SNP	ENST00000495186.1	37	CCDS14300.1	.	.	.	.	.	.	.	.	.	.	C	5.660	0.306331	0.10733	.	.	ENSG00000147155	ENST00000495186;ENST00000446158;ENST00000414061	D;D;D	0.97772	-4.53;-4.53;-4.53	5.72	2.86	0.33363	.	0.593501	0.17274	N	0.180272	D	0.91513	0.7320	N	0.16790	0.44	0.09310	N	1	B	0.23185	0.081	B	0.17722	0.019	T	0.82362	-0.0495	10	0.16420	T	0.52	-4.3153	4.5869	0.12287	0.1512:0.6114:0.1457:0.0917	.	54	Q15125	EBP_HUMAN	V	54	ENSP00000417052:A54V;ENSP00000390031:A54V;ENSP00000405832:A54V	ENSP00000405832:A54V	A	+	2	0	EBP	48267264	0.022000	0.18835	0.581000	0.28614	0.112000	0.19704	1.428000	0.34892	1.190000	0.43042	0.536000	0.68110	GCG		0.562	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579		T	48382320	C	T	48382320	3	4	85	1	0	0	0	0	1	0	0	0	4886	768	27	1	163	1	EBP	23	48382320	Missense_Mutation	SNP	C	TCGA-13-0793-01A-01W-0370-10	38216228	48382320	106888240	62	4491											
STARD8	9754	hgsc.bcm.edu	37	X	67937888	67937888	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0793-01A-01W-0370-10	TCGA-13-0793-10A-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	c1744263-b5f5-42d9-8177-f66b5455e77a	e4cba2c4-5005-412c-8a74-bb17c571f36c	g.chrX:67937888G>A	ENST00000252336.6	+	5	1264	c.892G>A	c.(892-894)Gat>Aat	p.D298N	STARD8_ENST00000374597.3_Missense_Mutation_p.D298N|STARD8_ENST00000374599.3_Missense_Mutation_p.D378N	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	298					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.D298N(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGATGAAGATGATGAGGAGAG	0.582																																																2	Substitution - Missense(2)	ovary(2)	X											61	41	48					X																	67937888		2203	4300	6503	67854613	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.892G>A	X.37:g.67937888G>A	ENSP00000252336:p.Asp298Asn		67854613	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	g	5.356	0.250909	0.10130	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.13538	2.58;2.6;2.58	4.29	1.21	0.21127	.	1.090560	0.06971	N	0.818066	T	0.10208	0.0250	N	0.22421	0.69	0.09310	N	1	B;B	0.24920	0.114;0.028	B;B	0.21546	0.017;0.035	T	0.37798	-0.9690	10	0.48119	T	0.1	.	7.9365	0.29933	0.0:0.3336:0.5146:0.1517	.	378;298	Q92502-2;Q92502	.;STAR8_HUMAN	N	298;378;298	ENSP00000252336:D298N;ENSP00000363727:D378N;ENSP00000363725:D298N	ENSP00000252336:D298N	D	+	1	0	STARD8	67854613	0.077000	0.21312	0.003000	0.11579	0.009000	0.06853	1.203000	0.32284	0.267000	0.21916	0.597000	0.82753	GAT		0.582	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		A	67937888	G	A	67937888	3	1	85	1	0	0	0	0	1	0	0	0	15265	1290	45	2	1154	2	STARD8	23	67937888	Missense_Mutation	SNP	G	TCGA-13-0793-01A-01W-0370-10	19555568	67937888	87332672	63	4492											
EIF2C1	26523	genome.wustl.edu	37	1	36367869	36367869	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr1:36367869G>T	ENST00000373204.4	+	11	1541	c.1328G>T	c.(1327-1329)gGg>gTg	p.G443V	AGO1_ENST00000373206.1_Missense_Mutation_p.G368V	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	443					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G443V(1)									TTCTACAATGGGATTGAGATC	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											108	107	107					1																	36367869		2203	4300	6503	36140456	SO:0001583	missense	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1328G>T	1.37:g.36367869G>T	ENSP00000362300:p.Gly443Val		36140456	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054995	0.93793	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.12879	2.64;2.64	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	H	0.95539	3.685	0.80722	D	1	P	0.38827	0.649	P	0.51055	0.657	T	0.58482	-0.7629	10	0.87932	D	0	-25.2753	19.7706	0.96363	0.0:0.0:1.0:0.0	.	443	Q9UL18	AGO1_HUMAN	V	368;443	ENSP00000362302:G368V;ENSP00000362300:G443V	ENSP00000362300:G443V	G	+	2	0	EIF2C1	36140456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.697000	0.92050	0.655000	0.94253	GGG		0.577	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			T	36367869	G	T	36367869	3	4	86	1	0	0	0	0	1	0	0	0	5005	1232	43	3	1370	3	EIF2C1	1	36367869	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09		36367869	212882752	1	4493											
KCNT2	343450	genome.wustl.edu	37	1	196295870	196295870	+	Silent	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr1:196295870G>A	ENST00000294725.9	-	19	3168	c.2253C>T	c.(2251-2253)ccC>ccT	p.P751P	KCNT2_ENST00000609185.1_Silent_p.P701P|KCNT2_ENST00000367433.5_Silent_p.P751P|KCNT2_ENST00000451324.2_Silent_p.P362P|KCNT2_ENST00000367431.4_Silent_p.P701P|KCNT2_ENST00000498426.1_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	751					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.P751P(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCAGTACTATGGGATTAAGTT	0.289																																																1	Substitution - coding silent(1)	ovary(1)	1											64	65	65					1																	196295870		2202	4294	6496	194562493	SO:0001819	synonymous_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2253C>T	1.37:g.196295870G>A			194562493	Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	CCDS1384.1																																																																																				0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		A	196295870	G	A	196295870	2	1	86	1	0	0	0	0	0	0	0	1	8092	1335	47	2		2	KCNT2	1	196295870	Silent	SNP	G	TCGA-13-0795-01A-01W-0372-09	159928001	196295870	52954751	2	4494											
PREPL	9581	genome.wustl.edu	37	2	44548965	44548965	+	Splice_Site	SNP	C	C	A	rs113296383		TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr2:44548965C>A	ENST00000409936.1	-	14	2532		c.e14+1		PREPL_ENST00000409957.1_Splice_Site|PREPL_ENST00000409272.1_Splice_Site|PREPL_ENST00000378520.3_Splice_Site|PREPL_ENST00000378511.3_Splice_Site|PREPL_ENST00000409411.1_Splice_Site|PREPL_ENST00000260648.6_Splice_Site|PREPL_ENST00000541738.1_Splice_Site|PREPL_ENST00000410081.1_Splice_Site	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like							cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.?(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGATAACATACCTTTTTGTGA	0.398																																																1	Unknown(1)	ovary(1)	2											110	107	108					2																	44548965		2203	4300	6503	44402469	SO:0001630	splice_region_variant	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.2094+1G>T	2.37:g.44548965C>A			44402469	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Splice_Site	SNP	ENST00000409936.1	37	CCDS33190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.19|18.19	3.568328|3.568328	0.65651|0.65651	.|.	.|.	ENSG00000138078|ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511|ENST00000420756	.|.	.|.	.|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72317	.|0.3445	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71052	.|-0.4704	.|4	.|.	.|.	.|.	.|.	16.6622|16.6622	0.85244|0.85244	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|80	.|.	.|.	.|R	-|-	.|3	.|2	PREPL|PREPL	44402469|44402469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	4.966000|4.966000	0.63715|0.63715	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	.|AGG		0.398	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036	Intron	A	44548965	C	A	44548965	5	1	86	1	0	0	0	0	0	0	1	0	12478	521	18	3	96	3	PREPL	2	44548965	Splice_Site	SNP	C	TCGA-13-0795-01A-01W-0372-09		44548965	198650408	3	4495											
ELMOD3	84173	genome.wustl.edu	37	2	85598576	85598576	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr2:85598576C>G	ENST00000409890.2	+	10	1165	c.498C>G	c.(496-498)agC>agG	p.S166R	ELMOD3_ENST00000315658.7_Missense_Mutation_p.S166R|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Missense_Mutation_p.S166R|ELMOD3_ENST00000393852.4_Missense_Mutation_p.S166R|ELMOD3_ENST00000409013.3_Missense_Mutation_p.S166R|ELMOD3_ENST00000428955.2_Missense_Mutation_p.S166R|RN7SL113P_ENST00000497900.2_RNA|RNU7-162P_ENST00000516669.1_RNA			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	166					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S166R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GCCTGGATAGCCAAGACCCAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											69	67	68					2																	85598576		2203	4300	6503	85452087	SO:0001583	missense	84173			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.498C>G	2.37:g.85598576C>G	ENSP00000386304:p.Ser166Arg		85452087	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888602	0.72524	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	6.17	1.34	0.21922	Engulfment/cell motility, ELMO (1);	0.351701	0.34700	N	0.003746	T	0.30885	0.0779	L	0.38838	1.175	0.29836	N	0.829653	D;P	0.53462	0.96;0.867	P;B	0.52856	0.711;0.411	T	0.15350	-1.0440	10	0.38643	T	0.18	-15.9684	9.3793	0.38304	0.0:0.6377:0.0:0.3623	.	166;166	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	R	166	ENSP00000386257:S166R;ENSP00000387139:S166R;ENSP00000386304:S166R;ENSP00000386248:S166R;ENSP00000377434:S166R;ENSP00000412692:S166R;ENSP00000318264:S166R	ENSP00000318264:S166R	S	+	3	2	ELMOD3	85452087	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.329000	0.19698	0.485000	0.27652	0.655000	0.94253	AGC		0.562	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		G	85598576	C	G	85598576	3	3	86	1	0	0	0	0	1	0	0	0	5070	738	26	3	524	3	ELMOD3	2	85598576	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	41049611	85598576	157600797	4	4496											
SCN1A	6323	genome.wustl.edu	37	2	166848837	166848837	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr2:166848837T>A	ENST00000303395.4	-	26	4947	c.4948A>T	c.(4948-4950)Atc>Ttc	p.I1650F	SCN1A_ENST00000423058.2_Missense_Mutation_p.I1650F|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1639F|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1622F			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1650					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.I1639F(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTCCTTTGATCAGACGTAGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											117	114	115					2																	166848837		2203	4300	6503	166557083	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4948A>T	2.37:g.166848837T>A	ENSP00000303540:p.Ile1650Phe		166557083	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.675759	0.88445	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000010	D	0.98874	0.9619	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99883	1.1117	10	0.87932	D	0	.	15.2026	0.73153	0.0:0.0:0.0:1.0	.	1639	P35498-2	.	F	1650;1650;1639;1622	ENSP00000407030:I1650F;ENSP00000303540:I1650F;ENSP00000364554:I1639F;ENSP00000386312:I1622F	ENSP00000303540:I1650F	I	-	1	0	SCN1A	166557083	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.916000	0.87491	1.979000	0.57680	0.528000	0.53228	ATC		0.488	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		A	166848837	T	A	166848837	3	1	86	1	0	0	0	0	1	0	0	0	13917	1435	50	5	1085	5	SCN1A	2	166848837	Missense_Mutation	SNP	T	TCGA-13-0795-01A-01W-0372-09	81250261	166848837	76350536	5	4497											
TTN	7273	genome.wustl.edu	37	2	179592405	179592405	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr2:179592405A>C	ENST00000591111.1	-	66	19173	c.18949T>G	c.(18949-18951)Tac>Gac	p.Y6317D	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y5390D|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Y6634D			Q8WZ42	TITIN_HUMAN	titin	13093	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y5390D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACTGAGTAGAGATTTAAG	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											192	198	196					2																	179592405		1984	4177	6161	179300650	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18949T>G	2.37:g.179592405A>C	ENSP00000465570:p.Tyr6317Asp		179300650	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	10.18	1.279018	0.23307	.	.	ENSG00000155657	ENST00000342992	T	0.65549	-0.16	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64283	0.2584	L	0.28608	0.87	0.80722	D	1	P	0.50369	0.934	P	0.52856	0.711	T	0.68119	-0.5493	9	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	6317	Q8WZ42	TITIN_HUMAN	D	5390	ENSP00000343764:Y5390D	ENSP00000343764:Y5390D	Y	-	1	0	TTN	179300650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.297000	0.72757	2.291000	0.77112	0.533000	0.62120	TAC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179592405	A	C	179592405	3	2	86	1	0	0	0	0	1	0	0	0	16735	420	15	5	84809	5	TTN	2	179592405	Missense_Mutation	SNP	A	TCGA-13-0795-01A-01W-0372-09	12743568	179592405	63606968	6	4498	12	2									
TTN	7273	genome.wustl.edu	37	2	179592407	179592407	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr2:179592407A>C	ENST00000591111.1	-	66	19171	c.18947T>G	c.(18946-18948)cTc>cGc	p.L6316R	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L5389R|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L6633R			Q8WZ42	TITIN_HUMAN	titin	13092	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L5389R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGAGTAGAGATTTAAGAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											192	197	195					2																	179592407		1979	4175	6154	179300652	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18947T>G	2.37:g.179592407A>C	ENSP00000465570:p.Leu6316Arg		179300652	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	12.92	2.082708	0.36758	.	.	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87740	0.6253	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91497	0.5216	9	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	6316	Q8WZ42	TITIN_HUMAN	R	5389	ENSP00000343764:L5389R	ENSP00000343764:L5389R	L	-	2	0	TTN	179300652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	CTC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179592407	A	C	179592407	3	2	86	1	0	0	0	0	1	0	0	0	16735	304	11	5	84811	5	TTN	2	179592407	Missense_Mutation	SNP	A	TCGA-13-0795-01A-01W-0372-09	2	179592407	63606966	7	4499	12	2									
CLASP2	23122	genome.wustl.edu	37	3	33686307	33686307	+	Silent	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr3:33686307G>A	ENST00000468888.2	-	8	850	c.804C>T	c.(802-804)tcC>tcT	p.S268S	CLASP2_ENST00000539981.1_Silent_p.S41S|CLASP2_ENST00000487200.1_Silent_p.S41S|CLASP2_ENST00000461133.3_Silent_p.S35S|CLASP2_ENST00000399362.4_Silent_p.S268S|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000333778.6_Silent_p.S45S|CLASP2_ENST00000313350.6_Silent_p.S41S|CLASP2_ENST00000359576.5_Silent_p.S268S|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000480013.1_Silent_p.S35S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	35					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.S268S(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAGGATTTCCGGATGTTTTAG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	3											95	91	92					3																	33686307		1955	4153	6108	33661311	SO:0001819	synonymous_variant	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.804C>T	3.37:g.33686307G>A			33661311	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37																																																																																					0.463	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		A	33686307	G	A	33686307	2	1	86	1	0	0	0	0	0	0	0	1	3455	1103	39	1		1	CLASP2	3	33686307	Silent	SNP	G	TCGA-13-0795-01A-01W-0372-09		33686307	164336123	8	4500											
LRRFIP2	9209	genome.wustl.edu	37	3	37125235	37125235	+	Silent	SNP	G	G	A	rs576073289		TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr3:37125235G>A	ENST00000336686.4	-	19	1250	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	LRRFIP2_ENST00000396428.2_Silent_p.D206D|LRRFIP2_ENST00000421307.1_Silent_p.D390D|LRRFIP2_ENST00000421276.2_Silent_p.D158D|LRRFIP2_ENST00000440230.1_Silent_p.D158D|LRRFIP2_ENST00000354379.4_Silent_p.D134D			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	390					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.D390D(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCTTCTCATTGTCTAACTGTG	0.348													G|||	1	0.000199681	0	0	5008	,	,		18328	0.001		0	False		,,,				2504	0															2	Whole gene deletion(1)|Substitution - coding silent(1)	ovary(2)	3											198	187	191					3																	37125235		2203	4300	6503	37100239	SO:0001819	synonymous_variant	9209			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1170C>T	3.37:g.37125235G>A			37100239	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	ENST00000336686.4	37	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181639	0.21787	.	.	ENSG00000093167	ENST00000440742	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.0785	14.1881	0.65620	0.0712:0.0:0.9288:0.0	.	.	.	.	X	3	.	.	Q	-	1	0	LRRFIP2	37100239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.978000	0.49305	2.733000	0.93635	0.561000	0.74099	CAA		0.348	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		A	37125235	G	A	37125235	2	1	86	1	0	0	0	0	0	0	0	1	9028	1368	48	2		2	LRRFIP2	3	37125235	Silent	SNP	G	TCGA-13-0795-01A-01W-0372-09	3438928	37125235	160897195	9	4501											
ZNF197	10168	genome.wustl.edu	37	3	44684620	44684620	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr3:44684620T>G	ENST00000396058.1	+	5	2165	c.1998T>G	c.(1996-1998)atT>atG	p.I666M	ZNF197_ENST00000344387.4_Missense_Mutation_p.I666M|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	666					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.I666M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAGCCTCATTTTACATCAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	3											60	62	61					3																	44684620		2203	4300	6503	44659624	SO:0001583	missense	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1998T>G	3.37:g.44684620T>G	ENSP00000379370:p.Ile666Met		44659624	B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870277	0.33069	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.07567	3.18;3.18	4.51	0.831	0.18860	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.288469	0.19366	U	0.116009	T	0.06690	0.0171	L	0.45422	1.42	0.09310	N	1	P	0.41978	0.767	B	0.43052	0.406	T	0.20874	-1.0262	10	0.35671	T	0.21	.	0.1324	0.00075	0.3067:0.1833:0.1589:0.3511	.	666	O14709	ZN197_HUMAN	M	666	ENSP00000345809:I666M;ENSP00000379370:I666M	ENSP00000345809:I666M	I	+	3	3	ZNF197	44659624	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.535000	0.02210	0.321000	0.23259	0.455000	0.32223	ATT		0.408	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		G	44684620	T	G	44684620	3	3	86	1	0	0	0	0	1	0	0	0	17759	1829	64	5	2016	5	ZNF197	3	44684620	Missense_Mutation	SNP	T	TCGA-13-0795-01A-01W-0372-09	7559385	44684620	153337810	10	4502											
ZPLD1	131368	genome.wustl.edu	37	3	102187821	102187821	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr3:102187821C>A	ENST00000491959.1	+	15	1657	c.775C>A	c.(775-777)Cct>Act	p.P259T	ZPLD1_ENST00000306176.1_Missense_Mutation_p.P275T|ZPLD1_ENST00000466937.1_Missense_Mutation_p.P259T			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	259	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.P275T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TGACAAGGACCCTCAGACCAC	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											64	65	65					3																	102187821		2203	4300	6503	103670511	SO:0001583	missense	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.775C>A	3.37:g.102187821C>A	ENSP00000420265:p.Pro259Thr		103670511	Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.305671	0.81247	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.81908	-1.55;-1.55;-1.55	5.47	5.47	0.80525	Zona pellucida sperm-binding protein (3);	0.047572	0.85682	D	0.000000	D	0.87422	0.6173	L	0.55743	1.74	0.80722	D	1	D;P	0.63046	0.992;0.918	P;P	0.57101	0.813;0.524	D	0.86208	0.1623	10	0.39692	T	0.17	-13.8774	19.3006	0.94143	0.0:1.0:0.0:0.0	.	275;259	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	T	259;275;259	ENSP00000420265:P259T;ENSP00000307801:P275T;ENSP00000418253:P259T	ENSP00000307801:P275T	P	+	1	0	ZPLD1	103670511	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.042000	0.70996	2.571000	0.86741	0.462000	0.41574	CCT		0.438	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		A	102187821	C	A	102187821	3	1	86	1	0	0	0	0	1	0	0	0	18221	623	22	3	853	3	ZPLD1	3	102187821	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	57503201	102187821	95834609	11	4503											
ADPRH	141	genome.wustl.edu	37	3	119305486	119305486	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr3:119305486A>C	ENST00000478399.1	+	3	2058	c.653A>C	c.(652-654)cAa>cCa	p.Q218P	ADPRH_ENST00000478927.1_Missense_Mutation_p.Q218P|ADPRH_ENST00000465513.1_Missense_Mutation_p.Q218P|ADPRH_ENST00000357003.3_Missense_Mutation_p.Q218P|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	218					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.Q218P(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GAAAATCTTCAACACTGGTGA	0.473																																					GBM(133;579 1804 5989 9967 40052)											1	Substitution - Missense(1)	ovary(1)	3											73	74	74					3																	119305486		2203	4300	6503	120788176	SO:0001583	missense	141			L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.653A>C	3.37:g.119305486A>C	ENSP00000420200:p.Gln218Pro		120788176	B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824935	0.50739	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.54	4.39	0.52855	.	0.399207	0.28140	N	0.016450	T	0.24392	0.0591	L	0.35414	1.06	0.33655	D	0.608911	B	0.28233	0.204	B	0.37422	0.249	T	0.31392	-0.9945	10	0.33940	T	0.23	-19.9283	4.9384	0.13952	0.7539:0.0:0.0845:0.1616	.	218	P54922	ADPRH_HUMAN	P	218	ENSP00000420200:Q218P;ENSP00000417528:Q218P;ENSP00000349496:Q218P;ENSP00000417430:Q218P	ENSP00000349496:Q218P	Q	+	2	0	ADPRH	120788176	0.040000	0.19996	0.993000	0.49108	0.992000	0.81027	0.835000	0.27531	1.125000	0.41998	0.533000	0.62120	CAA		0.473	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		C	119305486	A	C	119305486	3	2	86	1	0	0	0	0	1	0	0	0	331	130	5	5	659	5	ADPRH	3	119305486	Missense_Mutation	SNP	A	TCGA-13-0795-01A-01W-0372-09	17117665	119305486	78716944	12	4504											
PARP14	54625	genome.wustl.edu	37	3	122437033	122437033	+	Silent	SNP	G	G	T	rs201050912		TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr3:122437033G>T	ENST00000474629.2	+	13	4382	c.4116G>T	c.(4114-4116)ctG>ctT	p.L1372L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1372	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L1209L(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTATCTTTCTGCCTCAAGTAC	0.408																																																1	Substitution - coding silent(1)	ovary(1)	3											105	97	99					3																	122437033		1868	4112	5980	123919723	SO:0001819	synonymous_variant	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4116G>T	3.37:g.122437033G>T			123919723	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																				0.408	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		T	122437033	G	T	122437033	2	4	86	1	0	0	0	0	0	0	0	1	11458	1306	46	3		3	PARP14	3	122437033	Silent	SNP	G	TCGA-13-0795-01A-01W-0372-09	3131547	122437033	75585397	13	4505											
SLC2A2	6514	genome.wustl.edu	37	3	170724960	170724960	+	Missense_Mutation	SNP	C	C	T	rs121909741		TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr3:170724960C>T	ENST00000314251.3	-	5	668	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	SLC2A2_ENST00000382808.4_Missense_Mutation_p.V78I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	197			V -> I (in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes). {ECO:0000269|PubMed:8063045}.		carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.V197I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	ATGCCCGTGACGATGGCCAGC	0.483																																																1	Substitution - Missense(1)	ovary(1)	3	GRCh37	CM941278	SLC2A2	M	rs121909741	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	106	95	99	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	589	5.7	1	3	dbSNP_133	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A2	NM_000340.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	197/525	170724960	2,13004	2203	4300	6503	172207654	SO:0001583	missense	6514			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.589G>A	3.37:g.170724960C>T	ENSP00000323568:p.Val197Ile		172207654	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506749	0.85282	2.27E-4	1.16E-4	ENSG00000163581	ENST00000314251;ENST00000382808;ENST00000461867	T;T;T	0.74526	-0.85;-0.85;-0.85	5.73	5.73	0.89815	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86121	0.5857	M	0.83312	2.635	0.80722	A	1	D	0.64830	0.994	P	0.58820	0.846	D	0.85624	0.1266	9	0.46703	T	0.11	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	197	P11168	GTR2_HUMAN	I	197;78;24	ENSP00000323568:V197I;ENSP00000372258:V78I;ENSP00000418888:V24I	ENSP00000323568:V197I	V	-	1	0	SLC2A2	172207654	1.000000	0.71417	0.993000	0.49108	0.378000	0.30076	5.697000	0.68295	2.854000	0.98071	0.655000	0.94253	GTC		0.483	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		T	170724960	C	T	170724960	3	4	86	1	0	0	0	0	1	0	0	0	14547	536	19	1	1013	1	SLC2A2	3	170724960	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	48287927	170724960	27297470	14	4506											
OSTalpha	200931	genome.wustl.edu	37	3	195959313	195959313	+	Silent	SNP	A	A	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr3:195959313A>C	ENST00000296327.5	+	8	1013	c.804A>C	c.(802-804)ctA>ctC	p.L268L	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	268					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.L268L(1)								Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGACTGCCCTACAGCCCTCCA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	3											189	146	161					3																	195959313		2203	4300	6503	197443710	SO:0001819	synonymous_variant	200931				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.804A>C	3.37:g.195959313A>C			197443710	Q6ZMC7	Silent	SNP	ENST00000296327.5	37	CCDS3314.1																																																																																				0.582	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		C	195959313	A	C	195959313	2	2	86	1	0	0	0	0	0	0	0	1	11300	378	14	5		5	OSTalpha	3	195959313	Silent	SNP	A	TCGA-13-0795-01A-01W-0372-09	25234353	195959313	2063117	15	4507											
ENAM	10117	genome.wustl.edu	37	4	71509967	71509967	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr4:71509967C>G	ENST00000396073.3	+	9	3105	c.2824C>G	c.(2824-2826)Caa>Gaa	p.Q942E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	942					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.Q942E(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAGGGAAAGCCAAAACCCTTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	4											109	103	105					4																	71509967		2203	4300	6503	71728831	SO:0001583	missense	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2824C>G	4.37:g.71509967C>G	ENSP00000379383:p.Gln942Glu		71728831	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.144867	0.00029	.	.	ENSG00000132464	ENST00000396073	T	0.32753	1.44	5.97	0.886	0.19194	.	0.853061	0.10186	N	0.705244	T	0.28433	0.0703	L	0.49126	1.545	0.09310	N	1	B	0.13145	0.007	B	0.20184	0.028	T	0.34054	-0.9844	10	0.18276	T	0.48	-0.2653	13.0364	0.58875	0.1047:0.3855:0.5098:0.0	.	942	Q9NRM1	ENAM_HUMAN	E	942	ENSP00000379383:Q942E	ENSP00000379383:Q942E	Q	+	1	0	ENAM	71728831	0.000000	0.05858	0.873000	0.34254	0.001000	0.01503	-0.745000	0.04834	-0.109000	0.12044	-0.795000	0.03280	CAA		0.453	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		G	71509967	C	G	71509967	3	3	86	1	0	0	0	0	1	0	0	0	5112	595	21	3	2854	3	ENAM	4	71509967	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09		71509967	119644309	16	4508											
GPR98	84059	genome.wustl.edu	37	5	90024538	90024538	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr5:90024538G>C	ENST00000405460.2	+	49	10310	c.10214G>C	c.(10213-10215)cGa>cCa	p.R3405P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3405					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R3405P(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCCCTGTCCGAGGTGTGCTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	5											167	164	165					5																	90024538		1984	4165	6149	90060294	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10214G>C	5.37:g.90024538G>C	ENSP00000384582:p.Arg3405Pro		90060294	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.51|13.51	2.258594|2.258594	0.39896|0.39896	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|D	.|0.83335	.|-1.71	5.46|5.46	1.11|1.11	0.20524|0.20524	.|.	.|0.807344	.|0.11743	.|N	.|0.533781	T|T	0.73931|0.73931	0.3650|0.3650	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999999|0.999999	.|P;P	.|0.39480	.|0.675;0.62	.|B;B	.|0.36808	.|0.217;0.233	T|T	0.64850|0.64850	-0.6310|-0.6310	5|10	.|0.62326	.|D	.|0.03	.|.	3.5583|3.5583	0.07873|0.07873	0.5323:0.0:0.2755:0.1922|0.5323:0.0:0.2755:0.1922	.|.	.|3405;3405	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	Q|P	971|3405	.|ENSP00000384582:R3405P	.|ENSP00000296619:R3405P	E|R	+|+	1|2	0|0	GPR98|GPR98	90060294|90060294	0.027000|0.027000	0.19231|0.19231	0.946000|0.946000	0.38457|0.38457	0.902000|0.902000	0.53008|0.53008	0.604000|0.604000	0.24164|0.24164	0.286000|0.286000	0.22352|0.22352	0.557000|0.557000	0.71058|0.71058	GAG|CGA		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90024538	G	C	90024538	3	2	86	1	0	0	0	0	1	0	0	0	6721	1058	37	3	10408	3	GPR98	5	90024538	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09		90024538	90890722	17	4509											
ERAP1	51752	genome.wustl.edu	37	5	96121496	96121496	+	Missense_Mutation	SNP	C	C	T	rs111363347	byFrequency	TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr5:96121496C>T	ENST00000443439.2	-	13	2005	c.1939G>A	c.(1939-1941)Gtc>Atc	p.V647I	CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000296754.3_Missense_Mutation_p.V647I|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	647					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.V647I(1)		endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TATTACCTGACGAGCTGAAAT	0.403													.|||	8	0.00159744	0	0.0043	5008	,	,		20118	0		0.001	False		,,,				2504	0.0041															1	Substitution - Missense(1)	ovary(1)	5						C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	130	103	112		1939,1939,1939	5.8	1	5	dbSNP_132	112	22,8578	16.6+/-54.9	0,22,4278	yes	missense,missense,missense	ERAP1	NM_001040458.1,NM_001198541.1,NM_016442.3	29,29,29	0,23,6480	TT,TC,CC		0.2558,0.0227,0.1768	possibly-damaging,possibly-damaging,possibly-damaging	647/942,647/942,647/949	96121496	23,12983	2203	4300	6503	96147252	SO:0001583	missense	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1939G>A	5.37:g.96121496C>T	ENSP00000406304:p.Val647Ile		96147252	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.6	4.314660	0.81358	2.27E-4	0.002558	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.06294	3.32;3.32	5.77	5.77	0.91146	.	0.179513	0.48286	D	0.000200	T	0.30230	0.0758	M	0.83012	2.62	0.58432	D	0.999999	D;D;D	0.64830	0.971;0.994;0.993	P;D;D	0.71414	0.842;0.973;0.955	T	0.01345	-1.1379	10	0.72032	D	0.01	.	19.5934	0.95525	0.0:1.0:0.0:0.0	.	647;647;647	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	I	647	ENSP00000296754:V647I;ENSP00000406304:V647I	ENSP00000296754:V647I	V	-	1	0	ERAP1	96147252	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	7.372000	0.79612	2.724000	0.93272	0.561000	0.74099	GTC		0.403	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		T	96121496	C	T	96121496	3	4	86	1	0	0	0	0	1	0	0	0	5203	536	19	1	947	1	ERAP1	5	96121496	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	6096958	96121496	84793764	18	4510											
RANBP17	64901	genome.wustl.edu	37	5	170351442	170351442	+	Silent	SNP	A	A	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr5:170351442A>G	ENST00000523189.1	+	12	1520	c.1356A>G	c.(1354-1356)gaA>gaG	p.E452E		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	452					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.E452E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGATGTGAATATGAAAAGA	0.418			T	TRD@	ALL																																		Dom	yes		5	5q34	64901	RAN binding protein 17		L	1	Substitution - coding silent(1)	ovary(1)	5											169	149	156					5																	170351442		2203	4300	6503	170284047	SO:0001819	synonymous_variant	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1356A>G	5.37:g.170351442A>G			170284047	Q8IU74	Silent	SNP	ENST00000523189.1	37	CCDS34287.1																																																																																				0.418	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		G	170351442	A	G	170351442	2	3	86	1	0	0	0	0	0	0	0	1	13030	98	4	4		4	RANBP17	5	170351442	Silent	SNP	A	TCGA-13-0795-01A-01W-0372-09	74229946	170351442	10563818	19	4511											
BNIP1	662	genome.wustl.edu	37	5	172571575	172571575	+	Silent	SNP	C	C	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr5:172571575C>T	ENST00000351486.5	+	1	58	c.27C>T	c.(25-27)gtC>gtT	p.V9V	BNIP1_ENST00000352523.6_Silent_p.V9V|BNIP1_ENST00000393770.4_Silent_p.V9V|BNIP1_ENST00000231668.9_Silent_p.V9V|CTC-209H22.3_ENST00000521251.1_RNA	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	9					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.V9V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACGTCCACGTCCGGATCTGTA	0.602											OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	5											50	49	49					5																	172571575		2203	4300	6503	172504181	SO:0001819	synonymous_variant	100128619			AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.27C>T	5.37:g.172571575C>T		1901	172504181	D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	CCDS4384.1																																																																																				0.602	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		T	172571575	C	T	172571575	2	4	86	1	0	0	0	0	0	0	0	1	1476	842	30	2		2	BNIP1	5	172571575	Silent	SNP	C	TCGA-13-0795-01A-01W-0372-09	2220133	172571575	8343685	20	4512											
SCGN	10590	genome.wustl.edu	37	6	25670237	25670237	+	Missense_Mutation	SNP	G	G	A	rs200986563		TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr6:25670237G>A	ENST00000377961.2	+	6	572	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	135	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.R135Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AACTTCCTCCGAGACCTCTTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											164	172	169					6																	25670237		2203	4300	6503	25778216	SO:0001583	missense	10590			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.404G>A	6.37:g.25670237G>A	ENSP00000367197:p.Arg135Gln		25778216	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561910	0.45590	.	.	ENSG00000079689	ENST00000377961	T	0.70164	-0.46	5.6	5.6	0.85130	EF-hand-like domain (1);	0.269234	0.37053	N	0.002275	T	0.23249	0.0562	N	0.04063	-0.285	0.80722	D	1	B	0.30511	0.282	B	0.17433	0.018	T	0.21348	-1.0248	10	0.33141	T	0.24	.	8.6882	0.34251	0.1622:0.0:0.8378:0.0	.	135	O76038	SEGN_HUMAN	Q	135	ENSP00000367197:R135Q	ENSP00000367197:R135Q	R	+	2	0	SCGN	25778216	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	2.293000	0.43558	2.618000	0.88619	0.563000	0.77884	CGA		0.408	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			A	25670237	G	A	25670237	3	1	86	1	0	0	0	0	1	0	0	0	13906	1058	37	1	426	1	SCGN	6	25670237	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09		25670237	145444830	21	4513											
HIST1H1C	3006	genome.wustl.edu	37	6	26056015	26056015	+	Nonstop_Mutation	SNP	C	C	G	rs11540003		TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr6:26056015C>G	ENST00000343677.2	-	1	684	c.642G>C	c.(640-642)taG>taC	p.*214Y		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	0					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.*214Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						AGGCGTTCGCCTATTTCTTCT	0.473																																																1	Nonstop extension(1)	ovary(1)	6																																								26163994	SO:0001578	stop_lost	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.642G>C	6.37:g.26056015C>G			26163994	A8K4I2	Nonstop_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	2.422	-0.332958	0.05278	.	.	ENSG00000187837	ENST00000343677	.	.	.	5.18	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4539	0.04524	0.2315:0.4734:0.0:0.2951	.	.	.	.	Y	214	.	.	X	-	3	2	HIST1H1C	26163994	0.006000	0.16342	0.868000	0.34077	0.067000	0.16453	0.841000	0.27613	1.324000	0.45282	-0.251000	0.11542	TAG		0.473	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		G	26056015	C	G	26056015	4	3	86	1	0	0	0	0	0	0	0	0	7124	692	24	3	3	3	HIST1H1C	6	26056015	Nonstop_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	385778	26056015	145059052	22	4514											
HIST1H4H	8365	genome.wustl.edu	37	6	26285723	26285723	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr6:26285723G>C	ENST00000377727.1	-	1	14	c.5C>G	c.(4-6)tCt>tGt	p.S2C	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.S2C	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	2					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.S2C(1)		lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						ACCACGGCCAGACATGACTAA	0.473										HNSCC(76;0.23)																																						1	Substitution - Missense(1)	ovary(1)	6											61	63	62					6																	26285723		2203	4300	6503	26393702	SO:0001583	missense	8365			X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"Histones / Replication-dependent"	4788	protein-coding gene	gene with protein product		602828	"H4 histone family, member H", "histone 1, H4h"	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.5C>G	6.37:g.26285723G>C	ENSP00000366956:p.Ser2Cys		26393702	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377727.1	37	CCDS4604.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081418	0.36758	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	.	.	.	4.4	4.4	0.53042	.	0.284296	0.23252	U	0.050228	T	0.51736	0.1692	.	.	.	0.30514	N	0.769126	.	.	.	.	.	.	T	0.54490	-0.8286	6	0.87932	D	0	.	14.8602	0.70376	0.0:0.0:1.0:0.0	.	.	.	.	C	2	.	ENSP00000289352:S2C	S	-	2	0	HIST1H4H	26393702	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	7.493000	0.81493	2.181000	0.69327	0.491000	0.48974	TCT		0.473	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		C	26285723	G	C	26285723	3	2	86	1	0	0	0	0	1	0	0	0	7172	942	33	3	310	3	HIST1H4H	6	26285723	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	229708	26285723	144829344	23	4515											
NKAPL	222698	genome.wustl.edu	37	6	28227718	28227718	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr6:28227718A>G	ENST00000343684.3	+	1	621	c.569A>G	c.(568-570)aAg>aGg	p.K190R	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	190	Lys-rich.							p.K190R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAAAAAAGAAAGAATAAGTCG	0.363																																																1	Substitution - Missense(1)	ovary(1)	6											32	39	37					6																	28227718		2200	4298	6498	28335697	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.569A>G	6.37:g.28227718A>G	ENSP00000345716:p.Lys190Arg		28335697	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	A	8.195	0.796969	0.16327	.	.	ENSG00000189134	ENST00000343684	T	0.15372	2.43	4.95	3.8	0.43715	.	0.367801	0.28057	N	0.016778	T	0.02807	0.0084	N	0.11845	0.185	0.43175	D	0.994987	B	0.19583	0.037	B	0.20184	0.028	T	0.33675	-0.9859	10	0.13108	T	0.6	-1.7813	8.9768	0.35941	0.9121:0.0:0.0879:0.0	.	190	Q5M9Q1	NKAPL_HUMAN	R	190	ENSP00000345716:K190R	ENSP00000345716:K190R	K	+	2	0	NKAPL	28335697	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	1.453000	0.35167	1.033000	0.39918	-0.250000	0.11733	AAG		0.363	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			G	28227718	A	G	28227718	3	3	86	1	0	0	0	0	1	0	0	0	10440	72	3	4	571	4	NKAPL	6	28227718	Missense_Mutation	SNP	A	TCGA-13-0795-01A-01W-0372-09	1941995	28227718	142887349	24	4516											
PPARD	5467	genome.wustl.edu	37	6	35392337	35392337	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr6:35392337C>T	ENST00000311565.4	+	8	1208	c.859C>T	c.(859-861)Cac>Tac	p.H287Y	PPARD_ENST00000337400.2_Missense_Mutation_p.H287Y|PPARD_ENST00000448077.2_Missense_Mutation_p.H248Y|PPARD_ENST00000418635.2_Missense_Mutation_p.H189Y|PPARD_ENST00000444397.1_Missense_Mutation_p.H287Y|PPARD_ENST00000540939.1_Missense_Mutation_p.H184Y|PPARD_ENST00000360694.3_Missense_Mutation_p.H287Y	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	287	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.H287Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GTATGGCGTGCACGAGGCCAT	0.597																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	6											96	78	84					6																	35392337		2203	4300	6503	35500315	SO:0001583	missense	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.859C>T	6.37:g.35392337C>T	ENSP00000310928:p.His287Tyr		35500315	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577621	0.45902	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-4.3	5.82	5.82	0.92795	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95667	0.8591	N	0.08118	0	0.80722	D	1	D;D;D;P	0.89917	1.0;0.984;0.984;0.645	D;P;P;B	0.85130	0.997;0.666;0.666;0.342	D	0.95768	0.8806	10	0.36615	T	0.2	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	189;248;287;287	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	Y	248;287;189;287;287;287;184	ENSP00000414372:H248Y;ENSP00000353916:H287Y;ENSP00000413314:H189Y;ENSP00000410837:H287Y;ENSP00000310928:H287Y;ENSP00000337063:H287Y;ENSP00000443759:H184Y	ENSP00000310928:H287Y	H	+	1	0	PPARD	35500315	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	6.091000	0.71406	2.767000	0.95098	0.655000	0.94253	CAC		0.597	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		T	35392337	C	T	35392337	3	4	86	1	0	0	0	0	1	0	0	0	12298	710	25	2	894	2	PPARD	6	35392337	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	7164619	35392337	135722730	25	4517											
STK38	11329	genome.wustl.edu	37	6	36466154	36466154	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr6:36466154C>A	ENST00000229812.7	-	11	1347	c.1062G>T	c.(1060-1062)aaG>aaT	p.K354N		NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.K354N(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATTAGATCCTTGGCTTTCT	0.363																																					Colon(180;997 3561 16158)											1	Substitution - Missense(1)	ovary(1)	6											122	126	125					6																	36466154		2203	4300	6503	36574132	SO:0001583	missense	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.1062G>T	6.37:g.36466154C>A	ENSP00000229812:p.Lys354Asn		36574132		Missense_Mutation	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894343	0.72639	.	.	ENSG00000112079	ENST00000229812	T	0.68479	-0.33	5.91	5.91	0.95273	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	0.67126	0.2860	L	0.60012	1.86	0.80722	D	1	P	0.49447	0.924	P	0.52823	0.71	T	0.70791	-0.4776	10	0.72032	D	0.01	.	14.4536	0.67401	0.0:0.93:0.0:0.0699	.	354	Q15208	STK38_HUMAN	N	354	ENSP00000229812:K354N	ENSP00000229812:K354N	K	-	3	2	STK38	36574132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.356000	0.44116	2.804000	0.96469	0.650000	0.86243	AAG		0.363	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		A	36466154	C	A	36466154	3	1	86	1	0	0	0	0	1	0	0	0	15305	680	24	3	351	3	STK38	6	36466154	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	1073817	36466154	134648913	26	4518											
SYNCRIP	10492	genome.wustl.edu	37	6	86324762	86324762	+	Silent	SNP	A	A	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr6:86324762A>C	ENST00000369622.3	-	11	2084	c.1584T>G	c.(1582-1584)ggT>ggG	p.G528G	SYNCRIP_ENST00000355238.6_Silent_p.G528G|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V64G	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	528	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G528G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTGATCCAGGACCTCCTCTCT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	6											116	123	121					6																	86324762		2203	4300	6503	86381481	SO:0001819	synonymous_variant	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1584T>G	6.37:g.86324762A>C			86381481	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	CCDS5005.1																																																																																				0.632	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		C	86324762	A	C	86324762	2	2	86	1	0	0	0	0	0	0	0	1	15444	262	10	5		5	SYNCRIP	6	86324762	Silent	SNP	A	TCGA-13-0795-01A-01W-0372-09	49858608	86324762	84790305	27	4519											
CCR6	1235	genome.wustl.edu	37	6	167549746	167549746	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr6:167549746G>A	ENST00000341935.5	+	3	580	c.28G>A	c.(28-30)Gat>Aat	p.D10N	CCR6_ENST00000349984.4_Missense_Mutation_p.D10N|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.D10N	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	10					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.D10N(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GAATTTCAGCGATGTTTTCGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											152	151	152					6																	167549746		2203	4300	6503	167469736	SO:0001583	missense	1235			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.28G>A	6.37:g.167549746G>A	ENSP00000343952:p.Asp10Asn		167469736	E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	8.718	0.913764	0.17907	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.66280	-0.2;-0.2;-0.2	4.57	-7.52	0.01341	.	7739.210000	0.00166	N	0.000000	T	0.17789	0.0427	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.03922	-1.0992	10	0.17369	T	0.5	.	8.3791	0.32461	0.4587:0.0:0.442:0.0993	.	10	P51684	CCR6_HUMAN	N	10	ENSP00000383715:D10N;ENSP00000343952:D10N;ENSP00000339393:D10N	ENSP00000343952:D10N	D	+	1	0	CCR6	167469736	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.320000	0.08028	-1.888000	0.01113	-0.258000	0.10820	GAT		0.408	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			A	167549746	G	A	167549746	3	1	86	1	0	0	0	0	1	0	0	0	2945	1058	37	1	34	1	CCR6	6	167549746	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	81224984	167549746	3565321	28	4520											
ELMO1	9844	genome.wustl.edu	37	7	37253054	37253054	+	Silent	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr7:37253054G>A	ENST00000310758.4	-	12	1487	c.840C>T	c.(838-840)atC>atT	p.I280I	ELMO1_ENST00000442504.1_Silent_p.I280I|ELMO1_ENST00000448602.1_Silent_p.I280I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	280					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.I280I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCTGGGCTCGGATGACATGCT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	7											66	54	58					7																	37253054		2203	4300	6503	37219579	SO:0001819	synonymous_variant	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.840C>T	7.37:g.37253054G>A			37219579	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355169	0.24512	.	.	ENSG00000155849	ENST00000433246	.	.	.	5.2	4.32	0.51571	.	.	.	.	.	T	0.69967	0.3170	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69815	-0.5043	4	.	.	.	.	14.5877	0.68339	0.0715:0.0:0.9285:0.0	.	.	.	.	F	60	.	.	S	-	2	0	ELMO1	37219579	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.854000	0.55949	1.522000	0.49001	0.655000	0.94253	TCC		0.433	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		A	37253054	G	A	37253054	2	1	86	1	0	0	0	0	0	0	0	1	5065	1164	41	2		2	ELMO1	7	37253054	Silent	SNP	G	TCGA-13-0795-01A-01W-0372-09		37253054	121885609	29	4521											
CASD1	64921	genome.wustl.edu	37	7	94168341	94168341	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr7:94168341G>C	ENST00000297273.4	+	10	1616	c.1329G>C	c.(1327-1329)ttG>ttC	p.L443F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	443						integral component of membrane (GO:0016021)		p.L443F(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGTGATTTTGATTTATCACA	0.323																																																1	Substitution - Missense(1)	ovary(1)	7											118	115	116					7																	94168341		2203	4298	6501	94006277	SO:0001583	missense	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1329G>C	7.37:g.94168341G>C	ENSP00000297273:p.Leu443Phe		94006277	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361504	0.61403	.	.	ENSG00000127995	ENST00000297273	T	0.62941	-0.01	4.82	1.8	0.24995	.	0.000000	0.64402	D	0.000001	T	0.78836	0.4346	M	0.88775	2.98	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.79296	-0.1862	10	0.87932	D	0	.	9.0311	0.36260	0.1215:0.1287:0.7498:0.0	.	443;443	Q8WZ77;Q96PB1	.;CASD1_HUMAN	F	443	ENSP00000297273:L443F	ENSP00000297273:L443F	L	+	3	2	CASD1	94006277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.716000	0.25836	0.562000	0.29204	0.591000	0.81541	TTG		0.323	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		C	94168341	G	C	94168341	3	2	86	1	0	0	0	0	1	0	0	0	2664	1281	45	3	1367	3	CASD1	7	94168341	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	56915287	94168341	64970322	30	4522											
GRM8	2918	genome.wustl.edu	37	7	126173509	126173509	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr7:126173509G>T	ENST00000339582.2	-	9	2735	c.1927C>A	c.(1927-1929)Cca>Aca	p.P643T	GRM8_ENST00000444921.2_Missense_Mutation_p.P643T|GRM8_ENST00000358373.3_Missense_Mutation_p.P643T|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	643					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)	p.P643T(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ATTGTATCTGGTGCTGCAATC	0.463										HNSCC(24;0.065)																																						1	Substitution - Missense(1)	ovary(1)	7											90	90	90					7																	126173509		2203	4300	6503	125960745	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1927C>A	7.37:g.126173509G>T	ENSP00000344173:p.Pro643Thr		125960745	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240814	0.79912	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.90900	-2.75;-2.75;-2.75	5.75	5.75	0.90469	GPCR, family 3, C-terminal (2);	0.050021	0.85682	D	0.000000	D	0.96901	0.8988	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.97546	1.0089	10	0.87932	D	0	.	18.9383	0.92595	0.0:0.0:1.0:0.0	.	643;643	O00222-2;O00222	.;GRM8_HUMAN	T	643	ENSP00000344173:P643T;ENSP00000409790:P643T;ENSP00000351142:P643T	ENSP00000344173:P643T	P	-	1	0	GRM8	125960745	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	CCA		0.463	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126173509	G	T	126173509	3	4	86	1	0	0	0	0	1	0	0	0	6803	1261	44	3	861	3	GRM8	7	126173509	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	32005168	126173509	32965154	31	4523											
GRM8	2918	genome.wustl.edu	37	7	126173771	126173771	+	Silent	SNP	A	A	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr7:126173771A>T	ENST00000339582.2	-	9	2473	c.1665T>A	c.(1663-1665)ctT>ctA	p.L555L	GRM8_ENST00000444921.2_Silent_p.L555L|GRM8_ENST00000358373.3_Silent_p.L555L|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	555					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)	p.L555L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCAGAGGGCAAAGTTCACAGG	0.547										HNSCC(24;0.065)																																						1	Substitution - coding silent(1)	ovary(1)	7											148	133	138					7																	126173771		2203	4300	6503	125961007	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1665T>A	7.37:g.126173771A>T			125961007	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.547	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126173771	A	T	126173771	2	4	86	1	0	0	0	0	0	0	0	1	6803	1	1	5		5	GRM8	7	126173771	Silent	SNP	A	TCGA-13-0795-01A-01W-0372-09	262	126173771	32964892	32	4524											
AHCYL2	23382	genome.wustl.edu	37	7	129019563	129019563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr7:129019563C>T	ENST00000325006.3	+	2	502	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	AHCYL2_ENST00000446544.2_Nonsense_Mutation_p.Q149*|AHCYL2_ENST00000446212.1_Nonsense_Mutation_p.Q48*|AHCYL2_ENST00000474594.1_Nonsense_Mutation_p.Q47*|AHCYL2_ENST00000531335.2_Nonsense_Mutation_p.Q69*|AHCYL2_ENST00000490911.1_Nonsense_Mutation_p.Q47*	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	150					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.Q150*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTCCATTTCTCAGTCATCTAC	0.468																																					Pancreas(160;1736 1964 29875 40941 45605)											1	Substitution - Nonsense(1)	ovary(1)	7											104	87	93					7																	129019563		2203	4300	6503	128806799	SO:0001587	stop_gained	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.448C>T	7.37:g.129019563C>T	ENSP00000315931:p.Gln150*		128806799	B4DIZ5|D9N155|O94917	Nonsense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.	.	.	.	.	.	.	.	.	.	C	36	5.774568	0.96922	.	.	ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000460109;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.4168	18.0999	0.89503	0.0:1.0:0.0:0.0	.	.	.	.	X	150;149;69;48;47;48;47;48	.	ENSP00000315931:Q150X	Q	+	1	0	AHCYL2	128806799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.696000	0.84270	2.527000	0.85204	0.555000	0.69702	CAG		0.468	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			T	129019563	C	T	129019563	4	4	86	1	0	0	0	0	0	1	0	0	411	827	29	2	576	2	AHCYL2	7	129019563	Nonsense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	2845792	129019563	30119100	33	4525											
MGAM	8972	genome.wustl.edu	37	7	141759305	141759305	+	Silent	SNP	C	C	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr7:141759305C>A	ENST00000549489.2	+	32	3948	c.3853C>A	c.(3853-3855)Cgg>Agg	p.R1285R	MGAM_ENST00000475668.2_Silent_p.R1285R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1285	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1285R(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACATGGAGCGGCAGCTGGA	0.552																																																1	Substitution - coding silent(1)	ovary(1)	7											33	32	32					7																	141759305		1991	4143	6134	141405774	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3853C>A	7.37:g.141759305C>A			141405774	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.552	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141759305	C	A	141759305	2	1	86	1	0	0	0	0	0	0	0	1	9541	759	27	3		3	MGAM	7	141759305	Silent	SNP	C	TCGA-13-0795-01A-01W-0372-09	12739742	141759305	17379358	34	4526											
PRKDC	5591	genome.wustl.edu	37	8	48746759	48746759	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr8:48746759T>C	ENST00000314191.2	-	60	8203	c.8147A>G	c.(8146-8148)aAa>aGa	p.K2716R	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.K2716R	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2717	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.K2717R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGCTTACCTTTCACTTTGTT	0.483								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											1	Substitution - Missense(1)	ovary(1)	8											215	216	216					8																	48746759		1951	4157	6108	48909312	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8147A>G	8.37:g.48746759T>C	ENSP00000313420:p.Lys2716Arg		48909312	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	12.39	1.923074	0.33908	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02552	4.32;4.25	5.27	4.08	0.47627	.	0.329561	0.27345	N	0.019790	T	0.04318	0.0119	L	0.59912	1.85	0.27828	N	0.941549	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.25293	-1.0136	10	0.23891	T	0.37	.	12.1942	0.54288	0.0:0.0:0.1428:0.8572	.	2716;2717	E7EUY0;P78527	.;PRKDC_HUMAN	R	2716	ENSP00000313420:K2716R;ENSP00000345182:K2716R	ENSP00000313420:K2716R	K	-	2	0	PRKDC	48909312	1.000000	0.71417	0.317000	0.25265	0.823000	0.46562	3.052000	0.49893	0.800000	0.34041	0.460000	0.39030	AAA		0.483	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		C	48746759	T	C	48746759	3	2	86	1	0	0	0	0	1	0	0	0	12524	1841	64	4	4348	4	PRKDC	8	48746759	Missense_Mutation	SNP	T	TCGA-13-0795-01A-01W-0372-09		48746759	97617263	35	4527											
KIAA1529	100499483	genome.wustl.edu	37	9	100092886	100092886	+	Nonsense_Mutation	SNP	T	T	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr9:100092886T>G	ENST00000357054.1	+	32	3595	c.2660T>G	c.(2659-2661)tTa>tGa	p.L887*	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.L748*|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.L745*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Nonsense_Mutation_p.L748*			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	887	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L887*(1)									GAGGGCTCCTTAAACCCATCC	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	9											53	52	53					9																	100092886		2203	4300	6503	99132707	SO:0001587	stop_gained	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2660T>G	9.37:g.100092886T>G	ENSP00000349562:p.Leu887*		99132707	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	T	46	12.787460	0.99696	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	.	.	.	4.13	-4.24	0.03777	.	1.872970	0.02496	N	0.089926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	0.2495	5.2003	0.15260	0.278:0.5651:0.0:0.1569	.	.	.	.	X	887;748;745;771;748	.	ENSP00000349562:L887X	L	+	2	0	C9orf174	99132707	0.001000	0.12720	0.000000	0.03702	0.114000	0.19823	0.005000	0.13129	-0.766000	0.04639	0.397000	0.26171	TTA		0.488	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		G	100092886	T	G	100092886	4	3	86	1	0	0	0	0	0	1	0	0	8240	1764	61	5	2742	5	KIAA1529	9	100092886	Nonsense_Mutation	SNP	T	TCGA-13-0795-01A-01W-0372-09		100092886	41120545	36	4528											
LOXL4	84171	genome.wustl.edu	37	10	100011378	100011378	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr10:100011378A>G	ENST00000260702.3	-	13	2183	c.2033T>C	c.(2032-2034)aTt>aCt	p.I678T	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	678	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.I678T(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CTGGCAATCAATGTCATGCCG	0.562																																																1	Substitution - Missense(1)	ovary(1)	10											95	83	87					10																	100011378		2203	4300	6503	100001368	SO:0001583	missense	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.2033T>C	10.37:g.100011378A>G	ENSP00000260702:p.Ile678Thr		100001368	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480351	0.84747	.	.	ENSG00000138131	ENST00000260702	T	0.40225	1.04	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76520	-0.2929	10	0.87932	D	0	.	14.1079	0.65104	1.0:0.0:0.0:0.0	.	678	Q96JB6	LOXL4_HUMAN	T	678	ENSP00000260702:I678T	ENSP00000260702:I678T	I	-	2	0	LOXL4	100001368	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.309000	0.96252	1.954000	0.56735	0.533000	0.62120	ATT		0.562	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		G	100011378	A	G	100011378	3	3	86	1	0	0	0	0	1	0	0	0	8902	101	4	4	249	4	LOXL4	10	100011378	Missense_Mutation	SNP	A	TCGA-13-0795-01A-01W-0372-09		100011378	35523369	37	4529											
MKI67	4288	genome.wustl.edu	37	10	129905140	129905140	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr10:129905140G>A	ENST00000368654.3	-	13	5339	c.4964C>T	c.(4963-4965)aCa>aTa	p.T1655I	MKI67_ENST00000368653.3_Missense_Mutation_p.T1295I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1655	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T1655I(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTCCTGATGTCTGTGTGAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											217	211	213					10																	129905140		2203	4300	6503	129795130	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4964C>T	10.37:g.129905140G>A	ENSP00000357643:p.Thr1655Ile		129795130	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	8.361	0.833194	0.16820	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02395	4.31;4.31	2.95	-1.18	0.09617	.	2.416420	0.02583	N	0.099025	T	0.04588	0.0125	M	0.65975	2.015	0.09310	N	1	B;B;P	0.35793	0.131;0.307;0.521	B;B;B	0.35182	0.06;0.117;0.197	T	0.40683	-0.9550	10	0.30078	T	0.28	.	4.5622	0.12166	0.4092:0.1612:0.4296:0.0	.	1654;1295;1655	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	I	1655;1295;1654	ENSP00000357643:T1655I;ENSP00000357642:T1295I	ENSP00000357642:T1295I	T	-	2	0	MKI67	129795130	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.838000	0.04372	-0.269000	0.09298	-0.244000	0.11960	ACA		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129905140	G	A	129905140	3	1	86	1	0	0	0	0	1	0	0	0	9598	1377	48	2	4818	2	MKI67	10	129905140	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	29893762	129905140	5629607	38	4530											
PTPN5	84867	genome.wustl.edu	37	11	18759442	18759442	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr11:18759442T>C	ENST00000358540.2	-	9	1415	c.985A>G	c.(985-987)Aaa>Gaa	p.K329E	PTPN5_ENST00000396171.4_Missense_Mutation_p.K329E|PTPN5_ENST00000496201.2_5'Flank|PTPN5_ENST00000396170.1_Missense_Mutation_p.K297E|PTPN5_ENST00000396167.2_Missense_Mutation_p.K297E|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.K305E|PTPN5_ENST00000477854.1_Missense_Mutation_p.K133E	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	329	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)	p.K329E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGTATGGTTTTGTACCGGTTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	11											147	121	130					11																	18759442		2199	4293	6492	18716018	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.985A>G	11.37:g.18759442T>C	ENSP00000351342:p.Lys329Glu		18716018	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707103	0.68615	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.25	5.25	0.73442	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	M	0.83852	2.665	0.80722	D	1	B;B	0.27971	0.047;0.196	B;B	0.32022	0.139;0.138	D	0.85257	0.1048	10	0.62326	D	0.03	.	15.1609	0.72785	0.0:0.0:0.0:1.0	.	329;297	P54829;B3KXG7	PTN5_HUMAN;.	E	133;329;297;329;297;305	ENSP00000435056:K133E;ENSP00000351342:K329E;ENSP00000379473:K297E;ENSP00000379474:K329E;ENSP00000379470:K297E;ENSP00000379471:K305E	ENSP00000351342:K329E	K	-	1	0	PTPN5	18716018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.921000	0.70028	1.991000	0.58162	0.460000	0.39030	AAA		0.587	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		C	18759442	T	C	18759442	3	2	86	1	0	0	0	0	1	0	0	0	12794	1821	63	4	740	4	PTPN5	11	18759442	Missense_Mutation	SNP	T	TCGA-13-0795-01A-01W-0372-09		18759442	116247074	39	4531											
CAT	847	genome.wustl.edu	37	11	34470831	34470831	+	Silent	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr11:34470831G>A	ENST00000241052.4	+	2	248	c.159G>A	c.(157-159)caG>caA	p.Q53Q		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	53					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Q53Q(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTCTTGTTCAGGATGTGGTTT	0.468																																																1	Substitution - coding silent(1)	ovary(1)	11											109	107	108					11																	34470831		2202	4298	6500	34427407	SO:0001819	synonymous_variant	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.159G>A	11.37:g.34470831G>A			34427407	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Silent	SNP	ENST00000241052.4	37	CCDS7891.1																																																																																				0.468	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		A	34470831	G	A	34470831	2	1	86	1	0	0	0	0	0	0	0	1	2686	991	35	2		2	CAT	11	34470831	Silent	SNP	G	TCGA-13-0795-01A-01W-0372-09	15711389	34470831	100535685	40	4532											
STX3	6809	genome.wustl.edu	37	11	59560622	59560622	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr11:59560622A>G	ENST00000337979.4	+	7	1064	c.517A>G	c.(517-519)Aac>Gac	p.N173D	STX3_ENST00000437946.2_Missense_Mutation_p.N76D|STX3_ENST00000529177.1_Missense_Mutation_p.N173D|STX3_ENST00000535361.1_Missense_Mutation_p.N173D|STX3_ENST00000300150.7_Missense_Mutation_p.N142D	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	173					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)	p.N173D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GGAGAGTGGCAACCCGGCCAT	0.532																																																1	Substitution - Missense(1)	ovary(1)	11											106	97	100					11																	59560622		2201	4295	6496	59317198	SO:0001583	missense	6809			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.517A>G	11.37:g.59560622A>G	ENSP00000338562:p.Asn173Asp		59317198	B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265284	0.80358	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.11	5.11	0.69529	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.66506	2.035	0.80722	D	1	B;P;P;P	0.42161	0.003;0.525;0.772;0.663	B;B;P;B	0.44623	0.01;0.163;0.455;0.338	T	0.11084	-1.0602	10	0.44086	T	0.13	-7.7903	13.7354	0.62815	1.0:0.0:0.0:0.0	.	76;173;173;173	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	D	142;173;173;76;173;125	ENSP00000300150:N142D;ENSP00000338562:N173D;ENSP00000441649:N173D;ENSP00000393536:N76D;ENSP00000433248:N173D;ENSP00000431386:N125D	ENSP00000300150:N142D	N	+	1	0	STX3	59317198	1.000000	0.71417	0.999000	0.59377	0.685000	0.39939	8.775000	0.91772	1.927000	0.55829	0.454000	0.30748	AAC		0.532	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		G	59560622	A	G	59560622	3	3	86	1	0	0	0	0	1	0	0	0	15348	130	5	4	543	4	STX3	11	59560622	Missense_Mutation	SNP	A	TCGA-13-0795-01A-01W-0372-09	25089791	59560622	75445894	41	4533											
BATF2	116071	genome.wustl.edu	37	11	64757120	64757120	+	Silent	SNP	C	C	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr11:64757120C>T	ENST00000301887.4	-	3	436	c.306G>A	c.(304-306)caG>caA	p.Q102Q	BATF2_ENST00000527716.1_Silent_p.Q78Q|BATF2_ENST00000435842.2_Silent_p.Q17Q	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	102					defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q102Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GCCCCTCAGCCTGGTCCCAGC	0.687																																																1	Substitution - coding silent(1)	ovary(1)	11											20	21	21					11																	64757120		2195	4294	6489	64513696	SO:0001819	synonymous_variant	116071			AK092453	CCDS8087.1, CCDS73317.1	11q13.1	2013-01-10			ENSG00000168062	ENSG00000168062		"basic leucine zipper proteins"	25163	protein-coding gene	gene with protein product		614983					Standard	NM_138456		Approved	MGC20410	uc001ocf.1	Q8N1L9	OTTHUMG00000165633	ENST00000301887.4:c.306G>A	11.37:g.64757120C>T			64513696	D9IC56|Q8NAF4|Q8NAL8|Q96EH4	Silent	SNP	ENST00000301887.4	37	CCDS8087.1																																																																																				0.687	BATF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385478.2	NM_138456		T	64757120	C	T	64757120	2	4	86	1	0	0	0	0	0	0	0	1	1326	680	24	2		2	BATF2	11	64757120	Silent	SNP	C	TCGA-13-0795-01A-01W-0372-09	5196498	64757120	70249396	42	4534											
FAT3	120114	genome.wustl.edu	37	11	92600264	92600264	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr11:92600264G>A	ENST00000298047.6	+	21	12033	c.12016G>A	c.(12016-12018)Gcg>Acg	p.A4006T	FAT3_ENST00000409404.2_Missense_Mutation_p.A4006T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3856T|FAT3_ENST00000533797.1_Missense_Mutation_p.A341T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4006	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A581T(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGCAGCTTCGCGGAGGTGGT	0.662										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											10	12	11					11																	92600264		2012	4168	6180	92239912	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12016G>A	11.37:g.92600264G>A	ENSP00000298047:p.Ala4006Thr		92239912	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	36	5.672652	0.96754	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86432	-0.94;-0.95;-0.95;-2.12	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.92532	0.7628	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.74023	0.982;0.611	D	0.91475	0.5200	9	0.49607	T	0.09	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	4006;4006	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4006;4006;3856;341	ENSP00000298047:A4006T;ENSP00000387040:A4006T;ENSP00000432586:A3856T;ENSP00000436399:A341T	ENSP00000298047:A4006T	A	+	1	0	FAT3	92239912	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.377000	0.97184	2.826000	0.97356	0.561000	0.74099	GCG		0.662	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92600264	G	A	92600264	3	1	86	1	0	0	0	0	1	0	0	0	5691	1087	38	1	12098	1	FAT3	11	92600264	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	27843144	92600264	42406252	43	4535											
LRRK2	120892	genome.wustl.edu	37	12	40699656	40699656	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr12:40699656T>A	ENST00000298910.7	+	28	3905	c.3847T>A	c.(3847-3849)Tcc>Acc	p.S1283T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1283					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.S1283T(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGAACTAAGATCCTTTCCCAA	0.363																																																2	Substitution - Missense(2)	ovary(2)	12											91	88	89					12																	40699656		2203	4300	6503	38985923	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3847T>A	12.37:g.40699656T>A	ENSP00000298910:p.Ser1283Thr		38985923	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568002	0.28003	.	.	ENSG00000188906	ENST00000298910	T	0.25579	1.79	5.82	5.82	0.92795	.	0.055581	0.85682	D	0.000000	T	0.21062	0.0507	L	0.41824	1.3	0.37980	D	0.933571	B;B	0.25667	0.128;0.131	B;B	0.24974	0.056;0.057	T	0.12811	-1.0533	10	0.22109	T	0.4	.	11.2821	0.49201	0.1361:0.0:0.0:0.8639	.	1283;1283	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1283	ENSP00000298910:S1283T	ENSP00000298910:S1283T	S	+	1	0	LRRK2	38985923	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.734000	0.68580	2.214000	0.71695	0.533000	0.62120	TCC		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40699656	T	A	40699656	3	1	86	1	0	0	0	0	1	0	0	0	9033	1435	50	5	3957	5	LRRK2	12	40699656	Missense_Mutation	SNP	T	TCGA-13-0795-01A-01W-0372-09		40699656	93152239	44	4536											
GLIPR1	11010	genome.wustl.edu	37	12	75884247	75884247	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr12:75884247G>T	ENST00000266659.3	+	3	683	c.482G>T	c.(481-483)gGc>gTc	p.G161V	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	161	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G161V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						AAAGTTTCTGGCTTTGACGCT	0.453																																																1	Substitution - Missense(1)	ovary(1)	12											97	94	95					12																	75884247		2203	4300	6503	74170514	SO:0001583	missense	11010			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.482G>T	12.37:g.75884247G>T	ENSP00000266659:p.Gly161Val		74170514	A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	CCDS9011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.923328|1.923328	0.33908|0.33908	.|.	.|.	ENSG00000139278|ENSG00000139278	ENST00000456650;ENST00000550491|ENST00000266659	T|T	0.13538|0.08102	2.58|3.13	4.86|4.86	2.99|2.99	0.34606|0.34606	.|CAP domain (3);	.|0.603639	.|0.16865	.|N	.|0.196368	T|T	0.10121|0.10121	0.0248|0.0248	L|L	0.48642|0.48642	1.525|1.525	0.19945|0.19945	N|N	0.999948|0.999948	P|P	0.46512|0.46784	0.879|0.884	B|P	0.43274|0.49252	0.414|0.604	T|T	0.07046|0.07046	-1.0793|-1.0793	9|10	0.18710|0.08179	T|T	0.47|0.78	.|.	8.6397|8.6397	0.33970|0.33970	0.2641:0.0:0.7359:0.0|0.2641:0.0:0.7359:0.0	.|.	185|161	F6VVE8|P48060	.|GLIP1_HUMAN	S|V	185;44|161	ENSP00000391144:A185S|ENSP00000266659:G161V	ENSP00000391144:A185S|ENSP00000266659:G161V	A|G	+|+	1|2	0|0	GLIPR1|GLIPR1	74170514|74170514	0.039000|0.039000	0.19947|0.19947	0.011000|0.011000	0.14972|0.14972	0.053000|0.053000	0.15095|0.15095	1.844000|1.844000	0.39269|0.39269	1.020000|1.020000	0.39573|0.39573	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.453	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		T	75884247	G	T	75884247	3	4	86	1	0	0	0	0	1	0	0	0	6441	1203	42	3	492	3	GLIPR1	12	75884247	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	35184591	75884247	57967648	45	4537											
NR2C1	7181	genome.wustl.edu	37	12	95445552	95445552	+	Silent	SNP	G	G	A	rs113197444		TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr12:95445552G>A	ENST00000333003.5	-	8	1281	c.951C>T	c.(949-951)aaC>aaT	p.N317N	NR2C1_ENST00000330677.7_Silent_p.N317N|NR2C1_ENST00000393101.3_Silent_p.N317N|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	317					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.N317N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AAACATCACCGTTGGTCTGCA	0.284																																																1	Substitution - coding silent(1)	ovary(1)	12											104	95	98					12																	95445552		2203	4297	6500	93969683	SO:0001819	synonymous_variant	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.951C>T	12.37:g.95445552G>A			93969683	A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	CCDS9051.1																																																																																				0.284	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		A	95445552	G	A	95445552	2	1	86	1	0	0	0	0	0	0	0	1	10622	1136	40	1		1	NR2C1	12	95445552	Silent	SNP	G	TCGA-13-0795-01A-01W-0372-09	19561305	95445552	38406343	46	4538											
ELK3	2004	genome.wustl.edu	37	12	96640793	96640793	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr12:96640793C>G	ENST00000228741.3	+	3	609	c.283C>G	c.(283-285)Cct>Gct	p.P95A	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	95					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P95A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAAGATGGATCCTCACGCGGT	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											67	72	70					12																	96640793		2203	4300	6503	95164924	SO:0001583	missense	2004			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.283C>G	12.37:g.96640793C>G	ENSP00000228741:p.Pro95Ala		95164924	B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653053	0.67472	.	.	ENSG00000111145	ENST00000228741;ENST00000547860	T;T	0.53857	0.6;0.6	5.74	3.87	0.44632	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.045675	0.85682	N	0.000000	T	0.53045	0.1772	M	0.79258	2.445	0.80722	D	1	B	0.17038	0.02	B	0.15870	0.014	T	0.51810	-0.8658	10	0.49607	T	0.09	.	11.4034	0.49883	0.0:0.805:0.1268:0.0682	.	95	P41970	ELK3_HUMAN	A	95	ENSP00000228741:P95A;ENSP00000447857:P95A	ENSP00000228741:P95A	P	+	1	0	ELK3	95164924	1.000000	0.71417	0.880000	0.34516	0.903000	0.53119	5.700000	0.68318	0.740000	0.32651	0.561000	0.74099	CCT		0.562	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		G	96640793	C	G	96640793	3	3	86	1	0	0	0	0	1	0	0	0	5060	855	30	3	289	3	ELK3	12	96640793	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	1195241	96640793	37211102	47	4539											
DHRS4	10901	genome.wustl.edu	37	14	24424255	24424255	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr14:24424255C>T	ENST00000313250.5	+	2	343	c.140C>T	c.(139-141)gCc>gTc	p.A47V	DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397073.2_Missense_Mutation_p.A29V|DHRS4_ENST00000558581.1_Missense_Mutation_p.A47V|DHRS4_ENST00000421831.1_Missense_Mutation_p.A29V|DHRS4_ENST00000382761.3_Missense_Mutation_p.A29V|DHRS4_ENST00000397074.3_Missense_Mutation_p.A47V|DHRS4_ENST00000559632.1_Missense_Mutation_p.A47V|DHRS4_ENST00000543741.2_Missense_Mutation_p.A47V|DHRS4_ENST00000308178.8_Missense_Mutation_p.A29V|DHRS4_ENST00000397075.3_Missense_Mutation_p.A47V|DHRS4_ENST00000558263.1_Missense_Mutation_p.A47V	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	47					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.A47V(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	ATCGGCTTCGCCATCGCCCGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	14											48	54	52					14																	24424255		2203	4300	6503	23494095	SO:0001583	missense	10901			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.140C>T	14.37:g.24424255C>T	ENSP00000326219:p.Ala47Val		23494095	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	16.87	3.242536	0.58995	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;T;D;T;D;D;T	0.89196	1.53;1.53;1.53;-2.48;1.53;-2.48;-2.48;1.53	3.48	2.56	0.30785	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93739	0.7999	M	0.86097	2.795	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.83275	0.994;0.977;0.987;0.969;0.996;0.986	D	0.93001	0.6423	10	0.87932	D	0	.	9.6328	0.39789	0.2104:0.7896:0.0:0.0	.	47;47;47;47;47;47	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	V	47;29;29;29;29;47;47;47	ENSP00000326219:A47V;ENSP00000404147:A29V;ENSP00000380263:A29V;ENSP00000311993:A29V;ENSP00000372209:A29V;ENSP00000380265:A47V;ENSP00000380264:A47V;ENSP00000440508:A47V	ENSP00000311993:A29V	A	+	2	0	DHRS4	23494095	1.000000	0.71417	0.878000	0.34440	0.378000	0.30076	6.855000	0.75445	0.652000	0.30806	0.479000	0.44913	GCC		0.622	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			T	24424255	C	T	24424255	3	4	86	1	0	0	0	0	1	0	0	0	4492	739	26	2	146	2	DHRS4	14	24424255	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09		24424255	82925285	48	4540											
SNW1	22938	genome.wustl.edu	37	14	78203372	78203372	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr14:78203372G>C	ENST00000261531.7	-	6	642	c.580C>G	c.(580-582)Cag>Gag	p.Q194E	SNW1_ENST00000555761.1_Missense_Mutation_p.Q194E|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.Q32E	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	194	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.Q194E(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATAACCCTCTGTTTAGCTCCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	14											170	152	158					14																	78203372		2203	4300	6503	77273125	SO:0001583	missense	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.580C>G	14.37:g.78203372G>C	ENSP00000261531:p.Gln194Glu		77273125	A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649129	0.87958	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761;ENST00000416259	.	.	.	5.98	5.98	0.97165	SKI-interacting protein SKIP, SNW domain (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	L	0.60957	1.885	0.80722	D	1	D;B	0.54601	0.967;0.071	P;B	0.60886	0.88;0.078	T	0.65721	-0.6099	9	0.18710	T	0.47	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	194;194	G3V3A4;Q13573	.;SNW1_HUMAN	E	194;32;194;194	.	ENSP00000261531:Q194E	Q	-	1	0	SNW1	77273125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.843000	0.97960	0.585000	0.79938	CAG		0.398	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		C	78203372	G	C	78203372	3	2	86	1	0	0	0	0	1	0	0	0	14882	1386	48	3	1066	3	SNW1	14	78203372	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	53779117	78203372	29146168	49	4541											
SCAMP2	10066	genome.wustl.edu	37	15	75140947	75140947	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr15:75140947C>G	ENST00000268099.9	-	7	837	c.728G>C	c.(727-729)gGg>gCg	p.G243A		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	243					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)		p.G243A(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						TCACCTGTCCCCCAGGCCAGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	15											57	54	55					15																	75140947		2197	4295	6492	72928000	SO:0001583	missense	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.728G>C	15.37:g.75140947C>G	ENSP00000268099:p.Gly243Ala		72928000	B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114036	0.94339	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.29917	1.55	5.69	5.69	0.88448	.	0.051099	0.85682	N	0.000000	T	0.59445	0.2194	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.979;0.996	T	0.59947	-0.7358	10	0.54805	T	0.06	.	18.8151	0.92073	0.0:1.0:0.0:0.0	.	243;212	O15127;B3KU14	SCAM2_HUMAN;.	A	243;212	ENSP00000268099:G243A	ENSP00000268099:G243A	G	-	2	0	SCAMP2	72928000	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.684000	0.84104	2.700000	0.92200	0.643000	0.83706	GGG		0.507	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		G	75140947	C	G	75140947	3	3	86	1	0	0	0	0	1	0	0	0	13874	623	22	3	273	3	SCAMP2	15	75140947	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09		75140947	27390445	50	4542											
WDR93	56964	genome.wustl.edu	37	15	90270453	90270453	+	Missense_Mutation	SNP	G	G	A	rs142014935		TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr15:90270453G>A	ENST00000268130.7	+	9	1047	c.946G>A	c.(946-948)Ggg>Agg	p.G316R	WDR93_ENST00000444934.2_Missense_Mutation_p.G33R|WDR93_ENST00000560294.1_Missense_Mutation_p.G316R	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	316					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.G316R(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ACTGGGCTCCGGGCAGAATCA	0.483													G|||	1	0.000199681	0	0	5008	,	,		17635	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	15						G	ARG/GLY	0,4400		0,0,2200	55	54	54		946	5.6	1	15	dbSNP_134	54	1,8597	1.2+/-3.3	0,1,4298	yes	missense	WDR93	NM_020212.1	125	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	316/687	90270453	1,12997	2200	4299	6499	88071457	SO:0001583	missense	56964				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.946G>A	15.37:g.90270453G>A	ENSP00000268130:p.Gly316Arg		88071457	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.2	4.507534	0.85282	0.0	1.16E-4	ENSG00000140527	ENST00000268130;ENST00000444934	T;D	0.85339	0.46;-1.97	5.59	5.59	0.84812	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000002	D	0.91808	0.7408	M	0.74881	2.28	0.43667	D	0.996099	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92416	0.5941	10	0.87932	D	0	-27.3154	15.0792	0.72103	0.0:0.0:1.0:0.0	.	316;316	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	R	316;33	ENSP00000268130:G316R;ENSP00000403871:G33R	ENSP00000268130:G316R	G	+	1	0	WDR93	88071457	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	5.373000	0.66162	2.631000	0.89168	0.563000	0.77884	GGG		0.483	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		A	90270453	G	A	90270453	3	1	86	1	0	0	0	0	1	0	0	0	17340	1116	39	1	976	1	WDR93	15	90270453	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	15129506	90270453	12260939	51	4543											
IFT140	9742	genome.wustl.edu	37	16	1642487	1642487	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr16:1642487G>A	ENST00000426508.2	-	5	835	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	158					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.R158W(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGGGGAGCCGGAAGATGCAG	0.607																																																1	Substitution - Missense(1)	ovary(1)	16											104	92	96					16																	1642487		2199	4300	6499	1582488	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.472C>T	16.37:g.1642487G>A	ENSP00000406012:p.Arg158Trp		1582488	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137047	0.77775	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.62639	0.01	5.4	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.113741	0.64402	N	0.000014	T	0.70666	0.3250	M	0.77103	2.36	0.54753	D	0.999988	D	0.89917	1.0	P	0.56514	0.8	T	0.72554	-0.4258	10	0.72032	D	0.01	.	6.313	0.21174	0.1153:0.0:0.7149:0.1698	.	158	Q96RY7	IF140_HUMAN	W	158	ENSP00000406012:R158W	ENSP00000380562:R158W	R	-	1	2	IFT140	1582488	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.753000	0.38359	1.154000	0.42482	0.591000	0.81541	CGG		0.607	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1642487	G	A	1642487	3	1	86	1	0	0	0	0	1	0	0	0	7556	1115	39	1	4024	1	IFT140	16	1642487	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09		1642487	88712266	52	4544											
SETD6	79918	genome.wustl.edu	37	16	58552386	58552386	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr16:58552386G>A	ENST00000219315.4	+	7	1105	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E	SETD6_ENST00000310682.2_Missense_Mutation_p.G328E|SETD6_ENST00000394266.4_Missense_Mutation_p.G283E			Q8TBK2	SETD6_HUMAN	SET domain containing 6	352					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)	p.G328E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GGGGAAGAGGGAGCCTTTGTG	0.473																																																1	Substitution - Missense(1)	ovary(1)	16											113	109	110					16																	58552386		2198	4300	6498	57109887	SO:0001583	missense	79918			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.1055G>A	16.37:g.58552386G>A	ENSP00000219315:p.Gly352Glu		57109887	A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102054	0.56183	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315;ENST00000447443	T;T;T;T	0.22743	2.36;2.36;2.36;1.94	5.73	4.78	0.61160	Rubisco LS methyltransferase, substrate-binding domain (2);	0.054325	0.64402	D	0.000001	T	0.33614	0.0869	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.59767	0.957;0.986	P;P	0.55087	0.768;0.717	T	0.27331	-1.0077	10	0.07482	T	0.82	-17.7037	13.808	0.63246	0.0732:0.0:0.9268:0.0	.	352;328	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	E	328;283;352;114	ENSP00000310082:G328E;ENSP00000377809:G283E;ENSP00000219315:G352E;ENSP00000396437:G114E	ENSP00000219315:G352E	G	+	2	0	SETD6	57109887	1.000000	0.71417	0.977000	0.42913	0.248000	0.25809	4.622000	0.61240	1.423000	0.47198	-0.136000	0.14681	GGA		0.473	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		A	58552386	G	A	58552386	3	1	86	1	0	0	0	0	1	0	0	0	14138	1174	41	2	1081	2	SETD6	16	58552386	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	56909899	58552386	31802367	53	4545											
TP53	7157	genome.wustl.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T	rs587781991		TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr17:7578526C>T	ENST00000269305.4	-	5	593	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000420246.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y	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	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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)	GGCCAGTTGGCAAAACATCTT	0.572		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"	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)	17											50	50	50					17																	7578526		2203	4300	6503	7519251	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.404G>A	17.37:g.7578526C>T	ENSP00000269305:p.Cys135Tyr		7519251	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639320	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	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	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.929;1.0;1.0;1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135Y;ENSP00000352610:C135Y;ENSP00000269305:C135Y;ENSP00000398846:C135Y;ENSP00000391127:C135Y;ENSP00000391478:C135Y;ENSP00000425104:C3Y;ENSP00000423862:C42Y;ENSP00000424104:C135Y	ENSP00000269305:C135Y	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578526	C	T	7578526	3	4	86	1	0	0	0	0	1	0	0	0	16381	710	25	2	894	2	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09		7578526	73616684	54	4546											
MYH3	4621	genome.wustl.edu	37	17	10545920	10545920	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr17:10545920T>C	ENST00000583535.1	-	16	1789	c.1702A>G	c.(1702-1704)Aag>Gag	p.K568E	MYH3_ENST00000226209.7_Missense_Mutation_p.K568E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	568	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.K568E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGACCACCTTGGGCTTCTGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											168	165	166					17																	10545920		2203	4300	6503	10486645	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1702A>G	17.37:g.10545920T>C	ENSP00000464317:p.Lys568Glu		10486645	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.786679	0.90367	.	.	ENSG00000109063	ENST00000226209	T	0.73258	-0.73	4.74	4.74	0.60224	Myosin head, motor domain (2);	.	.	.	.	D	0.85720	0.5762	M	0.90369	3.11	0.41782	D	0.989826	B	0.22080	0.064	P	0.48770	0.589	D	0.87004	0.2118	9	0.87932	D	0	.	14.6914	0.69087	0.0:0.0:0.0:1.0	.	568	P11055	MYH3_HUMAN	E	568	ENSP00000226209:K568E	ENSP00000226209:K568E	K	-	1	0	MYH3	10486645	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.370000	0.52372	2.122000	0.65172	0.528000	0.53228	AAG		0.542	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		C	10545920	T	C	10545920	3	2	86	1	0	0	0	0	1	0	0	0	10036	1821	63	4	4224	4	MYH3	17	10545920	Missense_Mutation	SNP	T	TCGA-13-0795-01A-01W-0372-09	2967394	10545920	70649290	55	4547											
PIP4K2B	8396	genome.wustl.edu	37	17	36936743	36936743	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr17:36936743C>A	ENST00000269554.3	-	4	949	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	157	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.V157L(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ATCTCCGCCACGTCCTCGCTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											100	89	93					17																	36936743		2203	4300	6503	34190269	SO:0001583	missense	8396			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.469G>T	17.37:g.36936743C>A	ENSP00000269554:p.Val157Leu		34190269	Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156740	0.78114	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.34472	1.36	5.21	5.21	0.72293	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.056354	0.64402	D	0.000001	T	0.46852	0.1414	L	0.46614	1.455	0.58432	D	0.999999	P;P;B	0.40970	0.734;0.688;0.39	P;P;P	0.51487	0.671;0.618;0.547	T	0.16512	-1.0400	10	0.33940	T	0.23	-20.3191	17.4822	0.87675	0.0:1.0:0.0:0.0	.	157;157;157	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	L	157	ENSP00000269554:V157L	ENSP00000269554:V157L	V	-	1	0	PIP4K2B	34190269	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.360000	0.59455	2.716000	0.92895	0.561000	0.74099	GTG		0.582	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		A	36936743	C	A	36936743	3	1	86	1	0	0	0	0	1	0	0	0	11937	536	19	3	809	3	PIP4K2B	17	36936743	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	26390823	36936743	44258467	56	4548											
KLHL10	317719	genome.wustl.edu	37	17	40001495	40001495	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr17:40001495G>C	ENST00000293303.4	+	3	955	c.802G>C	c.(802-804)Gac>Cac	p.D268H		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	268					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.D268H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GGCCATGTATGACCTCAACAT	0.453																																																1	Substitution - Missense(1)	ovary(1)	17											154	145	148					17																	40001495		2050	4203	6253	37255021	SO:0001583	missense	317719			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.802G>C	17.37:g.40001495G>C	ENSP00000293303:p.Asp268His		37255021	Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901968	0.72754	.	.	ENSG00000161594	ENST00000293303	T	0.68765	-0.35	6.17	6.17	0.99709	.	0.353708	0.35838	N	0.002948	T	0.64114	0.2569	M	0.69358	2.11	0.46478	D	0.999067	P;P	0.45283	0.855;0.855	B;B	0.39027	0.2;0.288	T	0.65788	-0.6083	9	.	.	.	.	13.6567	0.62341	0.0738:0.0:0.9262:0.0	.	262;268	B4DXV2;Q6JEL2	.;KLH10_HUMAN	H	268	ENSP00000293303:D268H	.	D	+	1	0	KLHL10	37255021	0.988000	0.35896	1.000000	0.80357	0.994000	0.84299	2.036000	0.41165	2.941000	0.99782	0.655000	0.94253	GAC		0.453	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		C	40001495	G	C	40001495	3	2	86	1	0	0	0	0	1	0	0	0	8366	1290	45	3	812	3	KLHL10	17	40001495	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	3064752	40001495	41193715	57	4549											
DSEL	92126	genome.wustl.edu	37	18	65180980	65180981	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	TG	TG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr18:65180980_65180981delTG	ENST00000310045.7	-	2	2368_2369	c.895_896delCA	c.(895-897)cagfs	p.Q299fs	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	289					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.Q299fs*10(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAAACATACTGTGTGACGGAT	0.396																																																1	Deletion - Frameshift(1)	ovary(1)	18																																								63331961	SO:0001589	frameshift_variant	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.895_896delCA	18.37:g.65180984_65180985delTG	ENSP00000310565:p.Gln299fs		63331960	Q17RH1|Q6P5Z3	Frame_Shift_Del	DEL	ENST00000310045.7	37	CCDS11995.1																																																																																				0.396	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		-	65180981	TG	-	65180980	7	5	86	1	0	1	0	1	0	0	0	0	4775	1580	55	0	2776	0	DSEL	18	65180980	Frame_Shift_Del	DEL	TG	TCGA-13-0795-01A-01W-0372-09		65180980	12896268	58	4550											
UNC13A	23025	genome.wustl.edu	37	19	17743933	17743933	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr19:17743933C>T	ENST00000519716.2	-	27	3284	c.3285G>A	c.(3283-3285)atG>atA	p.M1095I	UNC13A_ENST00000552293.1_Missense_Mutation_p.M1095I|UNC13A_ENST00000550896.1_Missense_Mutation_p.M1093I|UNC13A_ENST00000551649.1_Missense_Mutation_p.M1095I|UNC13A_ENST00000252773.7_Missense_Mutation_p.M1095I|UNC13A_ENST00000428389.2_Missense_Mutation_p.M1183I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1095	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.M1183I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGCGTACTTCATGTCTTGGG	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											126	130	129					19																	17743933		2170	4286	6456	17604933	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3285G>A	19.37:g.17743933C>T	ENSP00000429562:p.Met1095Ile		17604933	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	15.42	2.827948	0.50845	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.81821	-1.54;-1.54;-1.54;-1.4;-1.4;-1.54	3.41	3.41	0.39046	Calcium-dependent secretion activator (1);Munc13 homology 1 (1);	0.123173	0.56097	U	0.000022	T	0.76863	0.4047	L	0.42529	1.33	0.49389	D	0.999785	B	0.27910	0.193	B	0.37091	0.241	T	0.77368	-0.2614	10	0.54805	T	0.06	.	12.3225	0.54993	0.0:1.0:0.0:0.0	.	1095	Q9UPW8	UN13A_HUMAN	I	1095;1183;1095;1095;1095;1093	ENSP00000429562:M1095I;ENSP00000400409:M1183I;ENSP00000252773:M1095I;ENSP00000447236:M1095I;ENSP00000447572:M1095I;ENSP00000446831:M1093I	ENSP00000252773:M1095I	M	-	3	0	UNC13A	17604933	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.440000	0.80464	1.743000	0.51761	0.298000	0.19748	ATG		0.537	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		T	17743933	C	T	17743933	3	4	86	1	0	0	0	0	1	0	0	0	16984	826	29	2	1894	2	UNC13A	19	17743933	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09		17743933	41385050	59	4551											
CHGB	1114	genome.wustl.edu	37	20	5904197	5904197	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr20:5904197A>T	ENST00000378961.4	+	4	1611	c.1407A>T	c.(1405-1407)agA>agT	p.R469S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	469						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.R469S(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCTGGACAGAAATTATCTCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	20											92	95	94					20																	5904197		2203	4300	6503	5852197	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1407A>T	20.37:g.5904197A>T	ENSP00000368244:p.Arg469Ser		5852197	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.837932	0.50951	.	.	ENSG00000089199	ENST00000378961	T	0.01665	4.7	5.48	0.661	0.17874	.	0.425467	0.19370	N	0.115932	T	0.02418	0.0074	M	0.71581	2.175	0.09310	N	1	P	0.42456	0.78	B	0.40602	0.334	T	0.40534	-0.9558	10	0.59425	D	0.04	-1.4173	2.0715	0.03614	0.4893:0.1224:0.2697:0.1185	.	469	P05060	SCG1_HUMAN	S	469	ENSP00000368244:R469S	ENSP00000368244:R469S	R	+	3	2	CHGB	5852197	0.000000	0.05858	0.000000	0.03702	0.583000	0.36354	0.280000	0.18790	0.045000	0.15804	0.533000	0.62120	AGA		0.517	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5904197	A	T	5904197	3	4	86	1	0	0	0	0	1	0	0	0	3339	243	9	5	1421	5	CHGB	20	5904197	Missense_Mutation	SNP	A	TCGA-13-0795-01A-01W-0372-09		5904197	57121323	60	4552											
CRNKL1	51340	genome.wustl.edu	37	20	20022259	20022259	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr20:20022259C>T	ENST00000377340.2	-	10	1689	c.1658G>A	c.(1657-1659)aGg>aAg	p.R553K	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R541K|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R392K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	553	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R553K(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CTGTCTTGTCCTCTCAGGATC	0.348																																																1	Substitution - Missense(1)	ovary(1)	20											104	99	101					20																	20022259		2203	4300	6503	19970259	SO:0001583	missense	51340			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1658G>A	20.37:g.20022259C>T	ENSP00000366557:p.Arg553Lys		19970259	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661201	0.67700	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.32515	1.45;1.45;1.45	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.082885	0.85682	D	0.000000	T	0.33059	0.0850	L	0.60957	1.885	0.80722	D	1	P	0.36837	0.571	B	0.31191	0.125	T	0.09443	-1.0674	10	0.45353	T	0.12	-14.7932	20.0706	0.97721	0.0:1.0:0.0:0.0	.	553	Q9BZJ0	CRNL1_HUMAN	K	541;553;392	ENSP00000366544:R541K;ENSP00000366557:R553K;ENSP00000440733:R392K	ENSP00000366544:R541K	R	-	2	0	CRNKL1	19970259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.047000	0.71038	2.744000	0.94065	0.655000	0.94253	AGG		0.348	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			T	20022259	C	T	20022259	3	4	86	1	0	0	0	0	1	0	0	0	3891	681	24	2	912	2	CRNKL1	20	20022259	Missense_Mutation	SNP	C	TCGA-13-0795-01A-01W-0372-09	14118062	20022259	43003261	61	4553											
XKR7	343702	genome.wustl.edu	37	20	30585011	30585011	+	Silent	SNP	C	C	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr20:30585011C>T	ENST00000562532.2	+	3	1665	c.1491C>T	c.(1489-1491)acC>acT	p.T497T		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	497						integral component of membrane (GO:0016021)		p.T497T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGACCCCCACCCCACCTGTCT	0.682																																																1	Substitution - coding silent(1)	ovary(1)	20											29	33	32					20																	30585011		2201	4299	6500	30048672	SO:0001819	synonymous_variant	343702			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1491C>T	20.37:g.30585011C>T			30048672	Q9NUG5	Silent	SNP	ENST00000562532.2	37	CCDS33459.1																																																																																				0.682	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		T	30585011	C	T	30585011	2	4	86	1	0	0	0	0	0	0	0	1	17436	610	22	2		2	XKR7	20	30585011	Silent	SNP	C	TCGA-13-0795-01A-01W-0372-09	10562752	30585011	32440509	62	4554											
ATP9A	10079	genome.wustl.edu	37	20	50310638	50310638	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr20:50310638G>A	ENST00000338821.5	-	7	815	c.551C>T	c.(550-552)tCa>tTa	p.S184L	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	184					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S184L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAAGAAGCATGACCCTGTGGA	0.632																																																1	Substitution - Missense(1)	ovary(1)	20											55	50	51					20																	50310638		2203	4300	6503	49744045	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.551C>T	20.37:g.50310638G>A	ENSP00000342481:p.Ser184Leu		49744045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140081	0.94560	.	.	ENSG00000054793	ENST00000338821	D	0.91631	-2.88	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	N	0.17631	0.505	0.80722	D	1	D	0.56287	0.975	P	0.56088	0.791	D	0.88285	0.2939	10	0.17369	T	0.5	-21.8079	18.3987	0.90509	0.0:0.0:1.0:0.0	.	184	O75110	ATP9A_HUMAN	L	184	ENSP00000342481:S184L	ENSP00000342481:S184L	S	-	2	0	ATP9A	49744045	1.000000	0.71417	0.956000	0.39512	0.741000	0.42261	9.368000	0.97152	2.329000	0.79093	0.655000	0.94253	TCA		0.632	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		A	50310638	G	A	50310638	3	1	86	1	0	0	0	0	1	0	0	0	1198	1294	45	2	2680	2	ATP9A	20	50310638	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09	19725627	50310638	12714882	63	4555											
USP25	29761	genome.wustl.edu	37	21	17250151	17250151	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr21:17250151G>C	ENST00000285679.6	+	23	3205	c.2836G>C	c.(2836-2838)Gga>Cga	p.G946R	USP25_ENST00000351097.5_Missense_Mutation_p.G341R|USP25_ENST00000400183.2_Missense_Mutation_p.G1016R|USP25_ENST00000285681.2_Missense_Mutation_p.G978R	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	946					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.G946R(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CTTCGAATCTGGAGAGGATCG	0.328																																																1	Substitution - Missense(1)	ovary(1)	21											91	93	92					21																	17250151		2203	4300	6503	16172022	SO:0001583	missense	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2836G>C	21.37:g.17250151G>C	ENSP00000285679:p.Gly946Arg		16172022	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738339	0.89573	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.33438	1.78;1.78;1.41;1.78	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	M	0.66939	2.045	0.80722	D	1	D;D;P;P	0.71674	0.995;0.998;0.951;0.949	D;D;P;P	0.69479	0.923;0.964;0.743;0.652	T	0.55127	-0.8189	10	0.59425	D	0.04	.	19.1605	0.93529	0.0:0.0:1.0:0.0	.	1016;341;978;946	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	R	978;946;341;1016	ENSP00000285681:G978R;ENSP00000285679:G946R;ENSP00000299574:G341R;ENSP00000383044:G1016R	ENSP00000285679:G946R	G	+	1	0	USP25	16172022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.412000	0.97347	2.641000	0.89580	0.585000	0.79938	GGA		0.328	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			C	17250151	G	C	17250151	3	2	86	1	0	0	0	0	1	0	0	0	17056	1349	47	3	2926	3	USP25	21	17250151	Missense_Mutation	SNP	G	TCGA-13-0795-01A-01W-0372-09		17250151	30879744	64	4556											
C21orf57	54059	genome.wustl.edu	37	21	47711310	47711310	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr21:47711310T>G	ENST00000329319.3	+	3	671	c.273T>G	c.(271-273)atT>atG	p.I91M	YBEY_ENST00000397701.4_Missense_Mutation_p.I91M|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397691.1_Missense_Mutation_p.I91M|YBEY_ENST00000397694.1_Missense_Mutation_p.I46M	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	91					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.I91M(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TGGGAGACATTTTCCTAGGAG	0.398																																																1	Substitution - Missense(1)	ovary(1)	21											99	101	100					21																	47711310		2203	4300	6503	46535738	SO:0001583	missense	54059			AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 57"	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.273T>G	21.37:g.47711310T>G	ENSP00000329614:p.Ile91Met		46535738	B7WPA9|B7WPF7|D3DSN2	Missense_Mutation	SNP	ENST00000329319.3	37	CCDS33591.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.734807	0.48939	.	.	ENSG00000182362	ENST00000397701;ENST00000397694;ENST00000329319;ENST00000397691	.	.	.	5.09	-4.33	0.03677	Metalloprotease catalytic domain, predicted (1);	0.186977	0.44097	D	0.000484	T	0.66809	0.2827	M	0.85373	2.75	0.34872	D	0.743662	D;P;P	0.61080	0.989;0.898;0.638	P;P;P	0.58873	0.847;0.578;0.467	T	0.71669	-0.4523	9	0.56958	D	0.05	-10.0487	8.443	0.32826	0.1026:0.439:0.0:0.4584	.	46;91;91	P58557-3;P58557;Q8TBC8	.;YBEY_HUMAN;.	M	91;46;91;91	.	ENSP00000329614:I91M	I	+	3	3	YBEY	46535738	0.830000	0.29337	0.874000	0.34290	0.881000	0.50899	-0.238000	0.08977	-0.714000	0.04975	0.418000	0.28097	ATT		0.398	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207265.1	NM_058181		G	47711310	T	G	47711310	3	3	86	1	0	0	0	0	1	0	0	0	2128	1829	64	5	279	5	C21orf57	21	47711310	Missense_Mutation	SNP	T	TCGA-13-0795-01A-01W-0372-09	30461159	47711310	418585	65	4557											
HMOX1	3162	genome.wustl.edu	37	22	35782809	35782809	+	Silent	SNP	C	C	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chr22:35782809C>T	ENST00000216117.8	+	3	615	c.276C>T	c.(274-276)gaC>gaT	p.D92D		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	92					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.D92D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	TGGAGCAGGACCTGGCCTTCT	0.647																																																1	Substitution - coding silent(1)	ovary(1)	22											50	53	52					22																	35782809		2203	4300	6503	34112809	SO:0001819	synonymous_variant	3162				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.276C>T	22.37:g.35782809C>T			34112809		Silent	SNP	ENST00000216117.8	37	CCDS13914.1																																																																																				0.647	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			T	35782809	C	T	35782809	2	4	86	1	0	0	0	0	0	0	0	1	7243	506	18	2		2	HMOX1	22	35782809	Silent	SNP	C	TCGA-13-0795-01A-01W-0372-09		35782809	15521757	66	4558											
SPIN3	169981	genome.wustl.edu	37	X	57021238	57021238	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chrX:57021238T>G	ENST00000374919.3	-	2	465	c.143A>C	c.(142-144)aAc>aCc	p.N48T		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	48					gamete generation (GO:0007276)			p.N48T(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GCCCACGATGTTCCCCCGAGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											134	138	136					X																	57021238		2173	4267	6440	57037963	SO:0001583	missense	169981			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.143A>C	X.37:g.57021238T>G	ENSP00000364054:p.Asn48Thr		57037963	B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.927985	0.34002	.	.	ENSG00000204271	ENST00000374919;ENST00000374915	T	0.53206	0.63	2.45	2.45	0.29901	.	0.000000	0.64402	U	0.000004	T	0.45856	0.1363	M	0.65975	2.015	0.37522	D	0.917569	P	0.36990	0.577	B	0.40009	0.316	T	0.56202	-0.8018	10	0.87932	D	0	-6.8191	8.0376	0.30502	0.0:0.0:0.0:1.0	.	48	Q5JUX0	SPIN3_HUMAN	T	48	ENSP00000364054:N48T	ENSP00000364050:N48T	N	-	2	0	SPIN3	57037963	1.000000	0.71417	0.074000	0.20217	0.011000	0.07611	6.311000	0.72835	1.229000	0.43630	0.486000	0.48141	AAC		0.547	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		G	57021238	T	G	57021238	3	3	86	1	0	0	0	0	1	0	0	0	15057	1725	60	5	637	5	SPIN3	23	57021238	Missense_Mutation	SNP	T	TCGA-13-0795-01A-01W-0372-09		57021238	98249322	67	4559											
RAB40AL	282808	genome.wustl.edu	37	X	102192455	102192456	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C|G	C|G	C|G	T	C|G	C|G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chrX:102192455_102192456CG>TT	ENST00000218249.5	+	1	256_257	c.209_210CG>TT	c.(208-210)aCG>aTT	p.T70I	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	70					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.T70M(2)|p.T70T(2)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CTCTGGGATACGTCGGGGCAGG	0.584																																																4	Substitution - Missense(2)|Substitution - coding silent(2)	ovary(4)	X																																								102079111|102079112	SO:0001583	missense	282808			BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	Exception_encountered	X.37:g.102192455_102192456delinsTT	ENSP00000218249:p.Thr70Ile		102079111|102079112	Q495H3	Missense_Mutation|Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																				0.584	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		TT	102192456	CG	TT	102192455	3	4	86	1	0	0	0	0	1	0	0	0	12943	536	19	1	211	1	RAB40AL	23	102192455	Missense_Mutation	DNP	CG	TCGA-13-0795-01A-01W-0372-09	45171217	102192455	53078105	68	4560											
ENOX2	10495	genome.wustl.edu	37	X	129771385	129771385	+	Splice_Site	SNP	C	C	A			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chrX:129771385C>A	ENST00000370927.1	-	9	1238		c.e9-1		ENOX2_ENST00000370935.1_Splice_Site|ENOX2_ENST00000394363.1_Splice_Site|ENOX2_ENST00000338144.3_Splice_Site			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2						cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.?(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATACTAAGGCTAACAATCAA	0.398																																					Ovarian(101;828 1506 2951 9500 35258)											1	Unknown(1)	ovary(1)	X											108	87	94					X																	129771385		2203	4300	6503	129599066	SO:0001630	splice_region_variant	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1217-1G>T	X.37:g.129771385C>A			129599066	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Splice_Site	SNP	ENST00000370927.1	37	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413235	0.42817	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	5.0	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9159	0.41434	0.0:0.8988:0.0:0.1012	.	.	.	.	.	-1	.	.	.	-	.	.	ENOX2	129599066	1.000000	0.71417	0.932000	0.37286	0.692000	0.40212	2.780000	0.47742	1.084000	0.41184	0.544000	0.68410	.		0.398	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314	Intron	A	129771385	C	A	129771385	5	1	86	1	0	0	0	0	0	0	1	0	5127	811	28	3	636	3	ENOX2	23	129771385	Splice_Site	SNP	C	TCGA-13-0795-01A-01W-0372-09	27578930	129771385	25499175	69	4561											
FMR1	2332	genome.wustl.edu	37	X	147009912	147009912	+	Splice_Site	SNP	G	G	T			TCGA-13-0795-01A-01W-0372-09	TCGA-13-0795-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b266a007-694a-4580-ad67-48b0f709bc43	6826e606-44fb-4cc0-9f41-4c60797abbe1	g.chrX:147009912G>T	ENST00000370475.4	+	4	398		c.e4+1		FMR1_ENST00000370471.3_Splice_Site|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000370477.1_Splice_Site|FMR1_ENST00000334557.6_Splice_Site|FMR1_ENST00000218200.8_Splice_Site|FMR1_ENST00000370470.1_Splice_Site|FMR1_ENST00000439526.2_Splice_Site	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1						central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGGTGAGGTAGGAAAATG	0.328									Fragile X syndrome																																							1	Unknown(1)	ovary(1)	X											124	130	128					X																	147009912		2203	4299	6502	146817604	SO:0001630	splice_region_variant	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.270+1G>T	X.37:g.147009912G>T			146817604	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Splice_Site	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393073	0.83011	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2637	0.87079	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FMR1	146817604	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.361000	0.97122	2.376000	0.81061	0.594000	0.82650	.		0.328	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	Intron	T	147009912	G	T	147009912	5	4	86	1	0	0	0	0	0	0	1	0	5960	1275	44	3	285	3	FMR1	23	147009912	Splice_Site	SNP	G	TCGA-13-0795-01A-01W-0372-09	17238527	147009912	8260648	70	4562											
C1orf194	57535	genome.wustl.edu	37	1	109656260	109656260	+	5'Flank	SNP	C	C	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr1:109656260C>A	ENST00000369939.3	+	0	0				C1orf194_ENST00000369945.3_5'Flank|C1orf194_ENST00000369948.3_5'Flank|C1orf194_ENST00000369949.4_Missense_Mutation_p.A14S|KIAA1324_ENST00000529753.1_5'Flank	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324						cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.A14S(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGTACTGGGGCCTCTTCCAGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											137	136	136					1																	109656260		1568	3582	5150	109457783	SO:0001631	upstream_gene_variant	127003			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725		1.37:g.109656260C>A	Exception_encountered		109457783	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	7.399	0.632391	0.14322	.	.	ENSG00000179902	ENST00000369949	.	.	.	3.28	1.25	0.21368	.	.	.	.	.	T	0.10895	0.0266	.	.	.	0.20307	N	0.999916	D	0.58268	0.982	P	0.52554	0.702	T	0.06770	-1.0808	7	0.05351	T	0.99	.	9.0617	0.36438	0.0:0.5533:0.4467:0.0	.	14	Q5T5A4-2	.	S	14	.	ENSP00000358965:A14S	A	-	1	0	C1orf194	109457783	0.030000	0.19436	0.009000	0.14445	0.039000	0.13416	0.873000	0.28052	0.356000	0.24157	0.561000	0.74099	GCC		0.542	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		A	109656260	C	A	109656260	1	1	87	0	1	0	0	0	0	0	0	0	2025	739	26	3		3	C1orf194	1	109656260	5'Flank	SNP	C	TCGA-13-0800-01A-01W-0372-09		109656260	139594361	1	4563											
PI4KB	5298	genome.wustl.edu	37	1	151288458	151288458	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr1:151288458A>C	ENST00000368873.1	-	2	668	c.500T>G	c.(499-501)tTt>tGt	p.F167C	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Missense_Mutation_p.F167C|PI4KB_ENST00000368872.1_Missense_Mutation_p.F167C|PI4KB_ENST00000368875.2_Missense_Mutation_p.F179C|PI4KB_ENST00000271657.5_Missense_Mutation_p.F179C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	167	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.F179C(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGTTGCGAAAGCAGAAGAG	0.478																																					Colon(154;765 1838 9854 28443 37492)											1	Substitution - Missense(1)	ovary(1)	1											92	87	89					1																	151288458		2203	4300	6503	149555082	SO:0001583	missense	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.500T>G	1.37:g.151288458A>C	ENSP00000357867:p.Phe167Cys		149555082	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	A	19.22	3.786043	0.70337	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.948;0.991	T	0.66031	-0.6024	10	0.87932	D	0	-11.0401	13.6345	0.62215	1.0:0.0:0.0:0.0	.	167;167;167	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	C	167;179;179;167;167;167	ENSP00000357868:F167C;ENSP00000357869:F179C;ENSP00000271657:F179C;ENSP00000357867:F167C;ENSP00000357866:F167C;ENSP00000394719:F167C	ENSP00000271657:F179C	F	-	2	0	PI4KB	149555082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.036000	0.93758	2.082000	0.62665	0.533000	0.62120	TTT		0.478	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		C	151288458	A	C	151288458	3	2	87	1	0	0	0	0	1	0	0	0	11874	14	1	5	1994	5	PI4KB	1	151288458	Missense_Mutation	SNP	A	TCGA-13-0800-01A-01W-0372-09	41632198	151288458	97962163	2	4564											
LMNA	4000	genome.wustl.edu	37	1	156104308	156104308	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr1:156104308A>G	ENST00000368300.4	+	3	840	c.628A>G	c.(628-630)Atc>Gtc	p.I210V	LMNA_ENST00000473598.2_Missense_Mutation_p.I111V|LMNA_ENST00000448611.2_Missense_Mutation_p.I98V|LMNA_ENST00000368297.1_Missense_Mutation_p.I129V|LMNA_ENST00000347559.2_Missense_Mutation_p.I210V|LMNA_ENST00000368301.2_Missense_Mutation_p.I210V|LMNA_ENST00000361308.4_Missense_Mutation_p.I210V|LMNA_ENST00000368299.3_Missense_Mutation_p.I210V|LMNA_ENST00000392353.3_Missense_Mutation_p.I129V	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	210	Coil 1B.|Rod.		I -> S (in CMD1A; dramatically aberrant localization with almost no nuclear rim staining and increased formation of intranuclear foci). {ECO:0000269|PubMed:20160190}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)	p.I210V(1)		NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CCAGAAGAACATCTACAGTGA	0.582									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																							1	Substitution - Missense(1)	ovary(1)	1											79	73	75					1																	156104308		2203	4300	6503	154370932	SO:0001583	missense	4000	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.628A>G	1.37:g.156104308A>G	ENSP00000357283:p.Ile210Val		154370932	B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	A	6.526	0.465322	0.12402	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000504687;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D;D	0.88277	-2.36;-1.62;-2.36;-2.36;-2.36;-1.62;-1.62;-1.62;-1.62;-1.62	5.44	5.44	0.79542	Filament (1);	0.000000	0.64402	D	0.000018	T	0.69278	0.3093	N	0.11756	0.17	0.53005	D	0.99996	B;B;B;B;B;B;B	0.29085	0.127;0.116;0.226;0.232;0.116;0.037;0.095	B;B;B;B;B;B;B	0.32393	0.124;0.07;0.124;0.145;0.07;0.042;0.042	T	0.69602	-0.5101	9	.	.	.	.	13.4511	0.61172	1.0:0.0:0.0:0.0	.	98;210;111;129;210;210;210	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	V	210;210;210;210;210;210;210;98;129;127;111;129	ENSP00000357284:I210V;ENSP00000292304:I210V;ENSP00000355292:I210V;ENSP00000357283:I210V;ENSP00000357282:I210V;ENSP00000395597:I98V;ENSP00000357280:I129V;ENSP00000426535:I127V;ENSP00000421821:I111V;ENSP00000376164:I129V	.	I	+	1	0	LMNA	154370932	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	3.586000	0.53950	2.059000	0.61396	0.379000	0.24179	ATC		0.582	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		G	156104308	A	G	156104308	3	3	87	1	0	0	0	0	1	0	0	0	8848	217	8	4	638	4	LMNA	1	156104308	Missense_Mutation	SNP	A	TCGA-13-0800-01A-01W-0372-09	4815850	156104308	93146313	3	4565											
NUAK2	81788	genome.wustl.edu	37	1	205273313	205273313	+	Silent	SNP	G	G	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr1:205273313G>A	ENST00000367157.3	-	7	1278	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.A384A(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGAGACTGGGCCATGTCAT	0.587																																																1	Substitution - coding silent(1)	ovary(1)	1											93	85	88					1																	205273313		2203	4300	6503	203539936	SO:0001819	synonymous_variant	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1152C>T	1.37:g.205273313G>A			203539936		Silent	SNP	ENST00000367157.3	37	CCDS1453.1																																																																																				0.587	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		A	205273313	G	A	205273313	2	1	87	1	0	0	0	0	0	0	0	1	10713	1219	43	2		2	NUAK2	1	205273313	Silent	SNP	G	TCGA-13-0800-01A-01W-0372-09	49169005	205273313	43977308	4	4566											
NBAS	51594	genome.wustl.edu	37	2	15564502	15564502	+	Silent	SNP	C	C	G			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr2:15564502C>G	ENST00000281513.5	-	23	2539	c.2514G>C	c.(2512-2514)acG>acC	p.T838T	NBAS_ENST00000441750.1_Silent_p.T838T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	838					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.T838T(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCTTCTCCACCGTAAGCTGGG	0.478																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	2											198	151	167					2																	15564502		2203	4300	6503	15481953	SO:0001819	synonymous_variant	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2514G>C	2.37:g.15564502C>G			15481953	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	0.242	-1.012616	0.02095	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.34019	0.0883	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.41538	-0.9503	4	.	.	.	.	3.2258	0.06731	0.1351:0.2405:0.3765:0.2479	.	.	.	.	P	6	.	.	R	-	2	0	NBAS	15481953	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-2.646000	0.00860	-1.959000	0.01018	-1.224000	0.01588	CGG		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		G	15564502	C	G	15564502	2	3	87	1	0	0	0	0	0	0	0	1	10186	639	23	3		3	NBAS	2	15564502	Silent	SNP	C	TCGA-13-0800-01A-01W-0372-09		15564502	227634871	5	4567											
SERPINE2	5270	genome.wustl.edu	37	2	224862979	224862979	+	Missense_Mutation	SNP	C	C	T	rs549448679		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr2:224862979C>T	ENST00000258405.4	-	3	582	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	SERPINE2_ENST00000447280.2_Missense_Mutation_p.V126M|SERPINE2_ENST00000409840.3_Missense_Mutation_p.V114M|SERPINE2_ENST00000409304.1_Missense_Mutation_p.V114M	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	114					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V114M(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTAACAAACACGGCGTTAGCC	0.403													C|||	1	0.000199681	0	0	5008	,	,		19580	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	2											113	111	112					2																	224862979		2203	4300	6503	224571223	SO:0001583	missense	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.340G>A	2.37:g.224862979C>T	ENSP00000258405:p.Val114Met		224571223	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699060	0.30142	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.75	3.49	0.39957	Serpin domain (3);	0.216774	0.48286	N	0.000197	T	0.78027	0.4219	L	0.35593	1.075	0.50813	D	0.999895	B;B	0.29162	0.235;0.235	B;B	0.29353	0.101;0.064	T	0.77153	-0.2692	10	0.56958	D	0.05	.	12.5874	0.56424	0.0:0.8305:0.0:0.1695	.	126;114	B4DIF2;P07093	.;GDN_HUMAN	M	114;114;114;126;114	ENSP00000386412:V114M;ENSP00000258405:V114M;ENSP00000386969:V114M;ENSP00000415786:V126M;ENSP00000408452:V114M	ENSP00000258405:V114M	V	-	1	0	SERPINE2	224571223	0.268000	0.24133	0.854000	0.33618	0.874000	0.50279	0.720000	0.25896	1.309000	0.44985	0.650000	0.86243	GTG		0.403	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		T	224862979	C	T	224862979	3	4	87	1	0	0	0	0	1	0	0	0	14115	536	19	1	884	1	SERPINE2	2	224862979	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09	209298477	224862979	18336394	6	4568											
HTR1F	3355	genome.wustl.edu	37	3	88040208	88040208	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr3:88040208C>A	ENST00000319595.4	+	1	363	c.309C>A	c.(307-309)gaC>gaA	p.D103E		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	103	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.D103E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGAGTGTTGACATTACCTGCT	0.483																																																1	Substitution - Missense(1)	ovary(1)	3											99	83	88					3																	88040208		2203	4300	6503	88122898	SO:0001583	missense	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.309C>A	3.37:g.88040208C>A	ENSP00000322924:p.Asp103Glu		88122898		Missense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791184	0.50102	.	.	ENSG00000179097	ENST00000319595	T	0.37584	1.19	5.31	-2.12	0.07165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	H	0.94183	3.505	0.40800	D	0.983334	D	0.89917	1.0	D	0.91635	0.999	T	0.61078	-0.7135	10	0.87932	D	0	.	5.9511	0.19246	0.1188:0.4447:0.0:0.4365	.	103	P30939	5HT1F_HUMAN	E	103	ENSP00000322924:D103E	ENSP00000322924:D103E	D	+	3	2	HTR1F	88122898	0.995000	0.38212	0.969000	0.41365	0.794000	0.44872	0.521000	0.22893	-0.504000	0.06577	-1.266000	0.01441	GAC		0.483	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		A	88040208	C	A	88040208	3	1	87	1	0	0	0	0	1	0	0	0	7440	477	17	3	311	3	HTR1F	3	88040208	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09		88040208	109982222	7	4569											
ATR	545	genome.wustl.edu	37	3	142180841	142180841	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr3:142180841T>A	ENST00000350721.4	-	42	7254	c.7133A>T	c.(7132-7134)gAa>gTa	p.E2378V	ATR_ENST00000383101.3_Missense_Mutation_p.E2314V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2378	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E2378V(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTCACCCATTCAATAATCCC	0.338								Other conserved DNA damage response genes																																								1	Substitution - Missense(1)	ovary(1)	3											148	154	152					3																	142180841		2203	4298	6501	143663531	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7133A>T	3.37:g.142180841T>A	ENSP00000343741:p.Glu2378Val		143663531	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.9|26.9	4.778121|4.778121	0.90195|0.90195	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.86366|.	-2.11;-2.11|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88937|.	0.6573|.	H|H	0.98276|0.98276	4.19|4.19	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.93213|.	0.6602|.	10|.	0.87932|.	D|.	0|.	-21.3298|-21.3298	15.6078|15.6078	0.76689|0.76689	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2378|.	Q13535|.	ATR_HUMAN|.	V|C	2378;2314|224	ENSP00000343741:E2378V;ENSP00000372581:E2314V|.	ENSP00000343741:E2378V|.	E|X	-|-	2|3	0|0	ATR|ATR	143663531|143663531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.997000|7.997000	0.88414|0.88414	2.156000|2.156000	0.67533|0.67533	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.338	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142180841	T	A	142180841	3	1	87	1	0	0	0	0	1	0	0	0	1204	1783	62	5	825	5	ATR	3	142180841	Missense_Mutation	SNP	T	TCGA-13-0800-01A-01W-0372-09	54140633	142180841	55841589	8	4570											
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	3											61	60	60					3																	178936091		1813	4072	5885	180418785	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		180418785	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936091	G	A	178936091	3	1	87	1	0	0	0	0	1	0	0	0	11913	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09	36755250	178936091	19086339	9	4571											
SLC25A2	83884	genome.wustl.edu	37	5	140683317	140683317	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr5:140683317G>A	ENST00000239451.4	-	1	295	c.116C>T	c.(115-117)aCg>aTg	p.T39M		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	39					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.T39M(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GTCAGGGAACGTCTGCATCTT	0.612																																																1	Substitution - Missense(1)	ovary(1)	5											87	84	85					5																	140683317		2203	4300	6503	140663501	SO:0001583	missense	83884			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.116C>T	5.37:g.140683317G>A	ENSP00000239451:p.Thr39Met		140663501	Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299583	0.40694	.	.	ENSG00000120329	ENST00000239451	T	0.79352	-1.26	3.84	2.04	0.26737	Mitochondrial carrier domain (2);	0.056319	0.64402	U	0.000001	D	0.86062	0.5843	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.85218	0.1025	10	0.87932	D	0	-17.4561	8.3767	0.32447	0.2018:0.0:0.7982:0.0	.	39	Q9BXI2	ORNT2_HUMAN	M	39	ENSP00000239451:T39M	ENSP00000239451:T39M	T	-	2	0	SLC25A2	140663501	1.000000	0.71417	0.990000	0.47175	0.080000	0.17528	8.676000	0.91199	0.608000	0.30000	-0.237000	0.12165	ACG		0.612	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		A	140683317	G	A	140683317	3	1	87	1	0	0	0	0	1	0	0	0	14485	1145	40	1	793	1	SLC25A2	5	140683317	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09		140683317	40231943	10	4572											
DNAH8	1769	genome.wustl.edu	37	6	38877311	38877311	+	Silent	SNP	T	T	C			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr6:38877311T>C	ENST00000359357.3	+	63	9134	c.8880T>C	c.(8878-8880)cgT>cgC	p.R2960R	DNAH8_ENST00000449981.2_Silent_p.R3177R|DNAH8_ENST00000441566.1_Silent_p.R2924R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2960	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2960R(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAGTTCCGTGCCCGTTCTT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	6											143	132	136					6																	38877311		2203	4300	6503	38985289	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8880T>C	6.37:g.38877311T>C			38985289	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																					0.478	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38877311	T	C	38877311	2	2	87	1	0	0	0	0	0	0	0	1	4607	1683	59	4		4	DNAH8	6	38877311	Silent	SNP	T	TCGA-13-0800-01A-01W-0372-09		38877311	132237756	11	4573											
FRK	2444	genome.wustl.edu	37	6	116263645	116263645	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr6:116263645G>A	ENST00000606080.1	-	8	1896	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	FRK_ENST00000538210.1_Missense_Mutation_p.R342C	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R484C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGTTTCCAACGCAGTGTCTCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											140	135	137					6																	116263645		2203	4300	6503	116370338	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1450C>T	6.37:g.116263645G>A	ENSP00000476145:p.Arg484Cys		116370338	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	6.964	0.547745	0.13312	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.34859	1.34;1.34	5.59	2.85	0.33270	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.644681	0.14692	N	0.304140	T	0.08537	0.0212	L	0.39085	1.19	0.31608	N	0.65184	P	0.40534	0.72	B	0.21708	0.036	T	0.10660	-1.0620	10	0.87932	D	0	.	5.7366	0.18069	0.1968:0.0:0.5656:0.2376	.	484	P42685	FRK_HUMAN	C	484;342	ENSP00000357615:R484C;ENSP00000443075:R342C	ENSP00000357615:R484C	R	-	1	0	FRK	116370338	0.998000	0.40836	0.414000	0.26521	0.183000	0.23260	2.698000	0.47068	0.318000	0.23185	-0.282000	0.10007	CGT		0.383	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		A	116263645	G	A	116263645	3	1	87	1	0	0	0	0	1	0	0	0	6048	1087	38	1	71	1	FRK	6	116263645	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09	77386334	116263645	54851422	12	4574											
HECW1	23072	genome.wustl.edu	37	7	43591887	43591887	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr7:43591887G>A	ENST00000395891.2	+	28	5067	c.4462G>A	c.(4462-4464)Gcg>Acg	p.A1488T	HECW1_ENST00000453890.1_Missense_Mutation_p.A1454T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1488	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A1467T(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGGCACCGCGGAAATCGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	7											121	126	124					7																	43591887		2034	4183	6217	43558412	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4462G>A	7.37:g.43591887G>A	ENSP00000379228:p.Ala1488Thr		43558412	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	36	5.723071	0.96847	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.41400	1.0;1.0	5.81	5.81	0.92471	HECT (4);	0.050915	0.85682	D	0.000000	T	0.53753	0.1816	L	0.42744	1.35	0.80722	D	1	D;D	0.58970	0.984;0.973	P;P	0.55087	0.615;0.768	T	0.53711	-0.8400	10	0.87932	D	0	.	20.0628	0.97684	0.0:0.0:1.0:0.0	.	1454;1488	B4DH42;Q76N89	.;HECW1_HUMAN	T	1488;1454;1488	ENSP00000379228:A1488T;ENSP00000407774:A1454T	ENSP00000265522:A1488T	A	+	1	0	HECW1	43558412	1.000000	0.71417	0.607000	0.28956	0.960000	0.62799	9.414000	0.97362	2.745000	0.94114	0.655000	0.94253	GCG		0.532	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43591887	G	A	43591887	3	1	87	1	0	0	0	0	1	0	0	0	7042	1087	38	1	4564	1	HECW1	7	43591887	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09		43591887	115546776	13	4575											
CALCR	799	genome.wustl.edu	37	7	93055878	93055878	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr7:93055878T>A	ENST00000394441.1	-	13	1530	c.1215A>T	c.(1213-1215)caA>caT	p.Q405H	CALCR_ENST00000359558.2_Missense_Mutation_p.Q439H|CALCR_ENST00000426151.1_Missense_Mutation_p.Q405H|CALCR_ENST00000421592.1_Missense_Mutation_p.Q421H|CALCR_ENST00000360249.4_Missense_Mutation_p.Q421H	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	439					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.Q405H(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATTGGGCCCATTGGCGCTTCA	0.537																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	7											37	42	40					7																	93055878		2203	4300	6503	92893814	SO:0001583	missense	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1215A>T	7.37:g.93055878T>A	ENSP00000377959:p.Gln405His		92893814	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	T	7.541	0.660737	0.14645	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	4.92	-9.85	0.00476	.	.	.	.	.	T	0.20414	0.0491	L	0.42487	1.325	0.29390	N	0.862675	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.06232	-1.0838	9	0.17369	T	0.5	.	6.0794	0.19933	0.0835:0.5985:0.1808:0.1371	.	439;405	F5H605;A4D1G6	.;.	H	439;421;421;405;405	ENSP00000352561:Q439H;ENSP00000353385:Q421H;ENSP00000399552:Q421H;ENSP00000377959:Q405H;ENSP00000389295:Q405H	ENSP00000352561:Q439H	Q	-	3	2	CALCR	92893814	0.000000	0.05858	0.024000	0.17045	0.251000	0.25915	-4.644000	0.00204	-2.760000	0.00370	-0.334000	0.08254	CAA		0.537	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		A	93055878	T	A	93055878	3	1	87	1	0	0	0	0	1	0	0	0	2579	1490	52	5	213	5	CALCR	7	93055878	Missense_Mutation	SNP	T	TCGA-13-0800-01A-01W-0372-09	49463991	93055878	66082785	14	4576											
MUC17	140453	genome.wustl.edu	37	7	100676761	100676761	+	Silent	SNP	T	T	C			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr7:100676761T>C	ENST00000306151.4	+	3	2128	c.2064T>C	c.(2062-2064)acT>acC	p.T688T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	688	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T688T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGAAGCACTCCATTAACAA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	7											335	337	337					7																	100676761		2203	4300	6503	100463481	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2064T>C	7.37:g.100676761T>C			100463481	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100676761	T	C	100676761	2	2	87	1	0	0	0	0	0	0	0	1	9974	1538	54	4		4	MUC17	7	100676761	Silent	SNP	T	TCGA-13-0800-01A-01W-0372-09	7620883	100676761	58461902	15	4577											
CFTR	1080	genome.wustl.edu	37	7	117171002	117171002	+	Missense_Mutation	SNP	C	C	A	rs397508516|rs397508520		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr7:117171002C>A	ENST00000003084.6	+	4	455	c.323C>A	c.(322-324)tCc>tAc	p.S108Y	CFTR_ENST00000454343.1_Missense_Mutation_p.S108Y	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	108	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.S108Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ATCATAGCTTCCTATGACCCG	0.418									Cystic Fibrosis																																							1	Substitution - Missense(1)	ovary(1)	7	GRCh37	CM950236	CFTR	M							92	84	87					7																	117171002		2203	4300	6503	116958238	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.323C>A	7.37:g.117171002C>A	ENSP00000003084:p.Ser108Tyr		116958238	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039265	0.93630	.	.	ENSG00000001626	ENST00000446805;ENST00000003084;ENST00000454343;ENST00000426809	D;D;D;D	0.99730	-6.56;-2.65;-2.65;-2.9	5.73	5.73	0.89815	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	N	0.11201	0.11	0.80722	D	1	D	0.56035	0.974	D	0.69142	0.962	D	0.96562	0.9416	10	0.02654	T	1	-10.9954	20.263	0.98456	0.0:1.0:0.0:0.0	.	108	P13569	CFTR_HUMAN	Y	27;108;108;108	ENSP00000417012:S27Y;ENSP00000003084:S108Y;ENSP00000403677:S108Y;ENSP00000389119:S108Y	ENSP00000003084:S108Y	S	+	2	0	CFTR	116958238	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.445000	0.80570	2.868000	0.98415	0.555000	0.69702	TCC		0.418	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		A	117171002	C	A	117171002	3	1	87	1	0	0	0	0	1	0	0	0	3294	855	30	3	337	3	CFTR	7	117171002	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09	16494241	117171002	41967661	16	4578											
COL22A1	169044	genome.wustl.edu	37	8	139658913	139658913	+	Missense_Mutation	SNP	G	G	A	rs200450282		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr8:139658913G>A	ENST00000303045.6	-	47	3906	c.3460C>T	c.(3460-3462)Cct>Tct	p.P1154S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1134S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1154	Collagen-like 10.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1154S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGCCTGGAGGCCCAGCCTCT	0.498										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	ovary(1)	8											25	25	25					8																	139658913		2203	4295	6498	139728095	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3460C>T	8.37:g.139658913G>A	ENSP00000303153:p.Pro1154Ser		139728095	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	0.648	-0.810720	0.02798	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96992	-4.2;-4.2	5.45	2.44	0.29823	.	0.427444	0.19785	N	0.106138	D	0.93200	0.7834	M	0.69463	2.115	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.13407	0.003;0.009	T	0.80320	-0.1432	10	0.09843	T	0.71	.	8.7306	0.34496	0.0814:0.2871:0.6315:0.0	.	1134;1154	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1154;1134;847	ENSP00000303153:P1154S;ENSP00000387655:P1134S	ENSP00000303153:P1154S	P	-	1	0	COL22A1	139728095	0.566000	0.26618	0.038000	0.18304	0.012000	0.07955	1.129000	0.31381	0.751000	0.32900	0.650000	0.86243	CCT		0.498	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139658913	G	A	139658913	3	1	87	1	0	0	0	0	1	0	0	0	3681	1203	42	2	1496	2	COL22A1	8	139658913	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09		139658913	6705109	17	4579											
FKTN	2218	genome.wustl.edu	37	9	108377632	108377632	+	Missense_Mutation	SNP	C	C	T	rs137951613		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr9:108377632C>T	ENST00000223528.2	+	7	978	c.854C>T	c.(853-855)gCg>gTg	p.A285V	FKTN_ENST00000357998.5_Missense_Mutation_p.A285V|FKTN_ENST00000602661.1_Missense_Mutation_p.A285V|FKTN_ENST00000448551.2_Missense_Mutation_p.A285V|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	285					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.A285V(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CAACTAGCAGCGAAAACATTA	0.393													C|||	1	0.000199681	0	0	5008	,	,		18291	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9											140	129	133					9																	108377632		2203	4300	6503	107417453	SO:0001583	missense	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.854C>T	9.37:g.108377632C>T	ENSP00000223528:p.Ala285Val		107417453	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.22	3.334380	0.60853	.	.	ENSG00000106692	ENST00000223528;ENST00000357998	D;D	0.90844	-2.4;-2.74	6.05	6.05	0.98169	.	0.160384	0.56097	D	0.000035	D	0.86514	0.5951	L	0.48362	1.52	0.80722	D	1	B;B	0.31968	0.349;0.297	B;B	0.18263	0.021;0.015	T	0.83101	-0.0128	10	0.17369	T	0.5	-26.3904	19.5894	0.95501	0.0:1.0:0.0:0.0	.	285;285	B4DUX9;O75072	.;FKTN_HUMAN	V	285	ENSP00000223528:A285V;ENSP00000350687:A285V	ENSP00000223528:A285V	A	+	2	0	FKTN	107417453	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	4.158000	0.58150	2.878000	0.98634	0.650000	0.86243	GCG		0.393	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		T	108377632	C	T	108377632	3	4	87	1	0	0	0	0	1	0	0	0	5919	768	27	1	876	1	FKTN	9	108377632	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09		108377632	32835799	18	4580											
BMS1	9790	genome.wustl.edu	37	10	43325850	43325850	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr10:43325850C>G	ENST00000374518.5	+	22	3661	c.3598C>G	c.(3598-3600)Cgc>Ggc	p.R1200G	RNU6-885P_ENST00000516607.1_RNA	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1200					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R1200G(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCCGTCATACGCGAGCCTCA	0.512																																																1	Substitution - Missense(1)	ovary(1)	10											54	55	55					10																	43325850		2203	4300	6503	42645856	SO:0001583	missense	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3598C>G	10.37:g.43325850C>G	ENSP00000363642:p.Arg1200Gly		42645856	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029545	0.54790	.	.	ENSG00000165733	ENST00000374518	T	0.25749	1.78	4.78	-1.25	0.09405	.	0.068390	0.53938	D	0.000048	T	0.30103	0.0754	M	0.80183	2.485	0.32229	N	0.57424	P	0.52577	0.954	P	0.45681	0.49	T	0.49818	-0.8899	10	0.25106	T	0.35	.	10.9474	0.47308	0.6134:0.2948:0.0918:0.0	.	1200	Q14692	BMS1_HUMAN	G	1200	ENSP00000363642:R1200G	ENSP00000363642:R1200G	R	+	1	0	BMS1	42645856	0.988000	0.35896	0.828000	0.32881	0.873000	0.50193	1.471000	0.35365	-0.095000	0.12351	0.306000	0.20318	CGC		0.512	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		G	43325850	C	G	43325850	3	3	87	1	0	0	0	0	1	0	0	0	1472	536	19	3	3680	3	BMS1	10	43325850	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09		43325850	92208897	19	4581											
OR51A4	401666	genome.wustl.edu	37	11	4967682	4967682	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr11:4967682C>A	ENST00000380373.2	-	1	674	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V217L(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTAAGACACAGCAATGAGA	0.428																																																1	Substitution - Missense(1)	ovary(1)	11											75	67	69					11																	4967682		2201	4294	6495	4924258	SO:0001583	missense	401666			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.649G>T	11.37:g.4967682C>A	ENSP00000369731:p.Val217Leu		4924258		Missense_Mutation	SNP	ENST00000380373.2	37	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.175997	0.00312	.	.	ENSG00000205497	ENST00000380373	T	0.38240	1.15	3.44	-3.12	0.05282	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17492	0.0420	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.38585	-0.9654	9	0.02654	T	1	.	10.1718	0.42915	0.0:0.3966:0.0:0.6034	.	217	Q8NGJ6	O51A4_HUMAN	L	217	ENSP00000369731:V217L	ENSP00000369731:V217L	V	-	1	0	OR51A4	4924258	0.000000	0.05858	0.000000	0.03702	0.502000	0.33828	-2.840000	0.00738	-0.616000	0.05671	0.479000	0.44913	GTG		0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		A	4967682	C	A	4967682	3	1	87	1	0	0	0	0	1	0	0	0	11087	478	17	3	294	3	OR51A4	11	4967682	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09		4967682	130038834	20	4582											
TCIRG1	10312	genome.wustl.edu	37	11	67815137	67815137	+	Silent	SNP	C	C	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr11:67815137C>A	ENST00000265686.3	+	12	1437	c.1329C>A	c.(1327-1329)ggC>ggA	p.G443G	TCIRG1_ENST00000532635.1_Silent_p.G227G	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	443					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)	p.G443G(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCTTCAGGGGCCGCTACCTGC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	11											82	92	89					11																	67815137		2200	4294	6494	67571713	SO:0001819	synonymous_variant	10312			AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1329C>A	11.37:g.67815137C>A			67571713	O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042259	0.19748	.	.	ENSG00000110719	ENST00000529364	.	.	.	4.03	-0.137	0.13469	.	.	.	.	.	T	0.41880	0.1178	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21586	-1.0241	4	.	.	.	-29.1321	1.8833	0.03232	0.1457:0.3826:0.2856:0.1862	.	.	.	.	D	247	.	.	A	+	2	0	TCIRG1	67571713	0.406000	0.25344	0.923000	0.36655	0.945000	0.59286	-0.154000	0.10130	-0.219000	0.10003	0.462000	0.41574	GCC		0.637	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		A	67815137	C	A	67815137	2	1	87	1	0	0	0	0	0	0	0	1	15703	726	26	3		3	TCIRG1	11	67815137	Silent	SNP	C	TCGA-13-0800-01A-01W-0372-09	62847455	67815137	67191379	21	4583											
HINFP	25988	genome.wustl.edu	37	11	119001461	119001461	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr11:119001461G>C	ENST00000350777.2	+	3	271	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q	HINFP_ENST00000527410.1_Missense_Mutation_p.E70Q|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	70					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.E70Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTTGTGGCAGGAATGTGGCTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											109	105	107					11																	119001461		2200	4295	6495	118506671	SO:0001583	missense	25988			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.208G>C	11.37:g.119001461G>C	ENSP00000318085:p.Glu70Gln		118506671	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865096	0.71949	.	.	ENSG00000172273	ENST00000350777;ENST00000529988;ENST00000527410;ENST00000532312	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.93	5.02	0.67125	Zinc finger, C2H2-like (1);	0.133138	0.64402	D	0.000002	T	0.43055	0.1230	L	0.54323	1.7	0.41241	D	0.986647	P;P	0.51933	0.949;0.791	P;B	0.48454	0.578;0.419	T	0.36359	-0.9751	10	0.41790	T	0.15	-16.3439	15.3251	0.74154	0.0668:0.0:0.9332:0.0	.	70;70	B4DTN3;Q9BQA5	.;HINFP_HUMAN	Q	70	ENSP00000318085:E70Q;ENSP00000431468:E70Q;ENSP00000436815:E70Q;ENSP00000434574:E70Q	ENSP00000318085:E70Q	E	+	1	0	HINFP	118506671	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.507000	0.81676	1.528000	0.49103	0.655000	0.94253	GAA		0.507	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		C	119001461	G	C	119001461	3	2	87	1	0	0	0	0	1	0	0	0	7110	1175	41	3	214	3	HINFP	11	119001461	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09	51186324	119001461	16005055	22	4584											
LARP4	113251	genome.wustl.edu	37	12	50860751	50860751	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr12:50860751C>T	ENST00000398473.2	+	13	1505	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S	LARP4_ENST00000429001.3_Missense_Mutation_p.P471S|LARP4_ENST00000293618.8_Missense_Mutation_p.P394S|LARP4_ENST00000347328.5_Missense_Mutation_p.P394S|LARP4_ENST00000518444.1_Missense_Mutation_p.P464S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	465					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.P465S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAGACCTCATCCTTCAACAGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	12											119	108	112					12																	50860751		1854	4100	5954	49147018	SO:0001583	missense	113251			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1393C>T	12.37:g.50860751C>T	ENSP00000381490:p.Pro465Ser		49147018	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	6.088	0.384462	0.11524	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	4.99	1.87	0.25490	.	0.165332	0.53938	N	0.000043	T	0.19406	0.0466	L	0.34521	1.04	0.49051	D	0.999746	B;B;B;B;B;B	0.16802	0.009;0.002;0.001;0.006;0.009;0.019	B;B;B;B;B;B	0.23419	0.033;0.046;0.009;0.012;0.04;0.023	T	0.17531	-1.0366	10	0.02654	T	1	.	4.7231	0.12927	0.1478:0.5917:0.0:0.2605	.	366;464;394;394;465;471	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	S	394;471;465;464;366;394	ENSP00000293618:P394S;ENSP00000415464:P471S;ENSP00000381490:P465S;ENSP00000429077:P464S;ENSP00000340901:P394S	ENSP00000293618:P394S	P	+	1	0	LARP4	49147018	0.763000	0.28462	0.736000	0.30914	0.687000	0.40016	1.360000	0.34125	0.248000	0.21435	0.455000	0.32223	CCT		0.393	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		T	50860751	C	T	50860751	3	4	87	1	0	0	0	0	1	0	0	0	8630	855	30	2	1447	2	LARP4	12	50860751	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09		50860751	82991144	23	4585											
ITGA7	3679	genome.wustl.edu	37	12	56086982	56086982	+	Silent	SNP	G	G	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr12:56086982G>A	ENST00000555728.1	-	21	2815	c.2787C>T	c.(2785-2787)ggC>ggT	p.G929G	ITGA7_ENST00000394230.2_Silent_p.G889G|ITGA7_ENST00000452168.2_Silent_p.G792G|ITGA7_ENST00000394229.2_Silent_p.G885G|ITGA7_ENST00000257879.6_Silent_p.G885G|ITGA7_ENST00000257880.7_Silent_p.G929G|ITGA7_ENST00000553804.1_Silent_p.G889G|ITGA7_ENST00000347027.6_Silent_p.G879G			Q13683	ITA7_HUMAN	integrin, alpha 7	929					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.G885G(2)|p.G889G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCCTGCCCGCCCTCCAGCT	0.602																																																3	Substitution - coding silent(3)	lung(2)|ovary(1)	12											57	59	58					12																	56086982		2203	4300	6503	54373249	SO:0001819	synonymous_variant	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2787C>T	12.37:g.56086982G>A			54373249	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37																																																																																					0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		A	56086982	G	A	56086982	2	1	87	1	0	0	0	0	0	0	0	1	7881	1074	38	1		1	ITGA7	12	56086982	Silent	SNP	G	TCGA-13-0800-01A-01W-0372-09	5226231	56086982	77764913	24	4586											
LGR5	8549	genome.wustl.edu	37	12	71977930	71977930	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr12:71977930C>A	ENST00000266674.5	+	18	2451	c.2140C>A	c.(2140-2142)Cct>Act	p.P714T	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.P690T|LGR5_ENST00000536515.1_Missense_Mutation_p.P642T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	714					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.P714T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTCTGCCTGCCTTTGCCTTT	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											123	119	121					12																	71977930		2203	4300	6503	70264197	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2140C>A	12.37:g.71977930C>A	ENSP00000266674:p.Pro714Thr		70264197	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235595	0.58886	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.87334	-2.24;-2.24;-2.24	5.85	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	D	0.94046	0.8092	M	0.85462	2.755	0.52501	D	0.999956	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.987	D	0.94979	0.8124	10	0.87932	D	0	.	17.078	0.86591	0.0:0.8732:0.1268:0.0	.	690;714	O75473-2;O75473	.;LGR5_HUMAN	T	714;714;642;690	ENSP00000266674:P714T;ENSP00000443033:P642T;ENSP00000441035:P690T	ENSP00000266674:P714T	P	+	1	0	LGR5	70264197	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	6.063000	0.71162	1.461000	0.47929	0.655000	0.94253	CCT		0.562	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		A	71977930	C	A	71977930	3	1	87	1	0	0	0	0	1	0	0	0	8757	739	26	3	2210	3	LGR5	12	71977930	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09	15890948	71977930	61873965	25	4587											
DCT	1638	genome.wustl.edu	37	13	95131316	95131316	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr13:95131316C>G	ENST00000377028.5	-	1	607	c.194G>C	c.(193-195)cGa>cCa	p.R65P	DCT_ENST00000446125.1_Missense_Mutation_p.R65P	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	65					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.R65P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTGTCGGCTCGCACCTCTGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	13											78	68	71					13																	95131316		2203	4300	6503	93929317	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.194G>C	13.37:g.95131316C>G	ENSP00000366227:p.Arg65Pro		93929317	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	6.713	0.500280	0.12762	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.83755	-1.76;-1.76	5.22	-2.14	0.07123	.	0.707775	0.14462	N	0.318087	T	0.62514	0.2434	N	0.16790	0.44	0.09310	N	1	B;B	0.24920	0.114;0.095	B;B	0.28465	0.09;0.025	T	0.49523	-0.8931	10	0.29301	T	0.29	-0.0317	1.1692	0.01822	0.2044:0.2127:0.1061:0.4767	.	65;65	Q09GT4;P40126	.;TYRP2_HUMAN	P	65	ENSP00000366227:R65P;ENSP00000392762:R65P	ENSP00000366227:R65P	R	-	2	0	DCT	93929317	0.001000	0.12720	0.003000	0.11579	0.513000	0.34164	-0.107000	0.10873	-0.567000	0.06046	-1.068000	0.02270	CGA		0.602	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			G	95131316	C	G	95131316	3	3	87	1	0	0	0	0	1	0	0	0	4304	884	31	3	1504	3	DCT	13	95131316	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09		95131316	20038562	26	4588											
HERC2	8924	genome.wustl.edu	37	15	28437274	28437274	+	Missense_Mutation	SNP	G	G	C	rs543946257		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr15:28437274G>C	ENST00000261609.7	-	53	8392	c.8284C>G	c.(8284-8286)Cgt>Ggt	p.R2762G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R2762G(3)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTCCAGAACGGCCACAAAAT	0.493											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	8e-04	0	5008	,	,		17962	0		0	False		,,,				2504	0															3	Substitution - Missense(3)	ovary(1)|NS(1)|central_nervous_system(1)	15											97	96	96					15																	28437274		2203	4300	6503	26110869	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8284C>G	15.37:g.28437274G>C	ENSP00000261609:p.Arg2762Gly	801	26110869		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874685	0.72180	.	.	ENSG00000128731	ENST00000261609	T	0.62788	0.0	5.67	5.67	0.87782	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.054132	0.85682	D	0.000000	T	0.77157	0.4089	L	0.53249	1.67	0.80722	D	1	D;D	0.69078	0.997;0.987	D;D	0.76071	0.987;0.953	T	0.77861	-0.2430	10	0.72032	D	0.01	.	19.7646	0.96335	0.0:0.0:1.0:0.0	.	229;2762	A8KAQ8;O95714	.;HERC2_HUMAN	G	2762	ENSP00000261609:R2762G	ENSP00000261609:R2762G	R	-	1	0	HERC2	26110869	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.808000	0.99193	2.675000	0.91044	0.471000	0.43371	CGT		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		C	28437274	G	C	28437274	3	2	87	1	0	0	0	0	1	0	0	0	7058	1116	39	3	6384	3	HERC2	15	28437274	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09		28437274	74094118	27	4589											
SLC28A2	9153	genome.wustl.edu	37	15	45555371	45555371	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr15:45555371G>C	ENST00000347644.3	+	5	440	c.375G>C	c.(373-375)aaG>aaC	p.K125N	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	125					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.K125N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TTTTGAAAAAGCTCCTGGGCA	0.458																																					NSCLC(92;493 1501 26361 28917 47116)											1	Substitution - Missense(1)	ovary(1)	15											92	89	90					15																	45555371		2198	4298	6496	43342663	SO:0001583	missense	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.375G>C	15.37:g.45555371G>C	ENSP00000315006:p.Lys125Asn		43342663	A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952903	0.34471	.	.	ENSG00000137860	ENST00000347644	T	0.79845	-1.31	5.92	0.661	0.17874	.	0.603852	0.19398	N	0.115249	T	0.72128	0.3422	M	0.66939	2.045	0.09310	N	0.999999	B	0.22800	0.075	B	0.20184	0.028	T	0.57189	-0.7854	10	0.28530	T	0.3	-3.0678	4.4795	0.11760	0.415:0.0:0.4401:0.1449	.	125	O43868	S28A2_HUMAN	N	125	ENSP00000315006:K125N	ENSP00000315006:K125N	K	+	3	2	SLC28A2	43342663	0.794000	0.28838	0.004000	0.12327	0.008000	0.06430	1.131000	0.31406	-0.116000	0.11893	-0.142000	0.14014	AAG		0.458	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		C	45555371	G	C	45555371	3	2	87	1	0	0	0	0	1	0	0	0	14535	962	34	3	389	3	SLC28A2	15	45555371	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09	17118097	45555371	56976021	28	4590											
TP53	7157	genome.wustl.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	T	T	A	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr17:7578535T>A	ENST00000269305.4	-	5	584	c.395A>T	c.(394-396)aAg>aTg	p.K132M	TP53_ENST00000420246.2_Missense_Mutation_p.K132M|TP53_ENST00000445888.2_Missense_Mutation_p.K132M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.K132M|TP53_ENST00000359597.4_Missense_Mutation_p.K132M|TP53_ENST00000455263.2_Missense_Mutation_p.K132M	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)	GCAAAACATCTTGTTGAGGGC	0.562		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"	90	Substitution - Missense(64)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(5)	lung(15)|ovary(12)|large_intestine(11)|central_nervous_system(8)|oesophagus(7)|breast(5)|bone(5)|upper_aerodigestive_tract(4)|biliary_tract(4)|urinary_tract(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|kidney(2)|prostate(2)|liver(2)|stomach(1)|endometrium(1)|skin(1)|pancreas(1)	17											46	47	47					17																	7578535		2203	4300	6503	7519260	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.395A>T	17.37:g.7578535T>A	ENSP00000269305:p.Lys132Met		7519260	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	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791136	0.70452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.48	4.41	0.53225	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	0.99832	0.9924	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;P;D	0.89917	0.989;0.99;0.999;1.0;0.992;0.908;1.0	D;P;D;D;D;P;D	0.97110	0.952;0.875;0.997;0.998;0.923;0.837;1.0	D	0.97314	0.9939	10	0.87932	D	0	-14.0777	9.8103	0.40820	0.0:0.082:0.0:0.918	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132M;ENSP00000352610:K132M;ENSP00000269305:K132M;ENSP00000398846:K132M;ENSP00000391127:K132M;ENSP00000391478:K132M;ENSP00000423862:K39M;ENSP00000424104:K132M	ENSP00000269305:K132M	K	-	2	0	TP53	7519260	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.993000	0.88291	1.020000	0.39573	-0.256000	0.11100	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578535	T	A	7578535	3	1	87	1	0	0	0	0	1	0	0	0	16381	1609	56	5	903	5	TP53	17	7578535	Missense_Mutation	SNP	T	TCGA-13-0800-01A-01W-0372-09		7578535	73616675	29	4591											
PRR15L	79170	genome.wustl.edu	37	17	46030313	46030313	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr17:46030313G>C	ENST00000300557.2	-	2	538	c.288C>G	c.(286-288)caC>caG	p.H96Q	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	96								p.H96Q(1)		NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						GTCCTTCCTCGTGATCATCAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	17											156	121	133					17																	46030313		2203	4300	6503	43385312	SO:0001583	missense	79170			BC002865	CCDS11523.1	17q21.32	2009-11-11	2009-11-11	2009-11-11		ENSG00000167183			28149	protein-coding gene	gene with protein product			"ATPase family, AAA domain containing 4"	ATAD4			Standard	NM_024320		Approved	MGC11242	uc002imp.4	Q9BU68		ENST00000300557.2:c.288C>G	17.37:g.46030313G>C	ENSP00000300557:p.His96Gln		43385312	D3DTU0	Missense_Mutation	SNP	ENST00000300557.2	37	CCDS11523.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.263394	0.01445	.	.	ENSG00000167183	ENST00000300557	.	.	.	5.58	-3.0	0.05480	.	1.558370	0.03307	N	0.189986	T	0.18425	0.0442	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08086	-1.0739	9	0.13108	T	0.6	-4.1372	0.214	0.00159	0.2414:0.1834:0.2545:0.3207	.	96	Q9BU68	PR15L_HUMAN	Q	96	.	ENSP00000300557:H96Q	H	-	3	2	PRR15L	43385312	0.010000	0.17322	0.035000	0.18076	0.064000	0.16182	0.026000	0.13599	-0.242000	0.09667	-0.839000	0.03059	CAC		0.557	PRR15L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441413.1	NM_024320		C	46030313	G	C	46030313	3	2	87	1	0	0	0	0	1	0	0	0	12591	1136	40	3	27	3	PRR15L	17	46030313	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09	38451778	46030313	35164897	30	4592											
LLGL2	3993	genome.wustl.edu	37	17	73555350	73555350	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr17:73555350C>G	ENST00000392550.3	+	6	506	c.389C>G	c.(388-390)aCa>aGa	p.T130R	LLGL2_ENST00000375227.4_Missense_Mutation_p.T130R|LLGL2_ENST00000578363.1_Missense_Mutation_p.T130R|LLGL2_ENST00000167462.5_Missense_Mutation_p.T130R|LLGL2_ENST00000577200.1_Missense_Mutation_p.T130R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	130					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.T130R(1)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCAGTGCCACACAGATCACC	0.632																																																1	Substitution - Missense(1)	ovary(1)	17											59	45	50					17																	73555350		2203	4300	6503	71066945	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.389C>G	17.37:g.73555350C>G	ENSP00000376333:p.Thr130Arg		71066945	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203175	0.38905	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;D	0.95980	3.39;3.51;-3.87	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	M	0.73962	2.25	0.58432	D	0.999999	D;D;P;D;D	0.89917	0.999;1.0;0.869;0.992;0.999	D;D;P;P;D	0.91635	0.997;0.999;0.731;0.805;0.986	D	0.97936	1.0323	10	0.56958	D	0.05	-0.0239	18.4142	0.90563	0.0:1.0:0.0:0.0	.	119;119;130;130;130	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	R	130;130;130;119	ENSP00000167462:T130R;ENSP00000376333:T130R;ENSP00000364375:T130R	ENSP00000167462:T130R	T	+	2	0	LLGL2	71066945	1.000000	0.71417	0.992000	0.48379	0.645000	0.38454	7.170000	0.77587	2.353000	0.79882	0.462000	0.41574	ACA		0.632	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		G	73555350	C	G	73555350	3	3	87	1	0	0	0	0	1	0	0	0	8834	478	17	3	407	3	LLGL2	17	73555350	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09	27525037	73555350	7639860	31	4593											
EMR1	2015	genome.wustl.edu	37	19	6926553	6926553	+	Silent	SNP	G	G	A	rs150705433		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr19:6926553G>A	ENST00000312053.4	+	16	2200	c.2163G>A	c.(2161-2163)ccG>ccA	p.P721P	EMR1_ENST00000381407.5_Silent_p.P580P|EMR1_ENST00000450315.3_Silent_p.P544P|EMR1_ENST00000250572.8_Silent_p.P656P|EMR1_ENST00000381404.4_Silent_p.P669P	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	721					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P721P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGGGCTGCCGATGCTGGTGG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	19						G		1,4405	2.1+/-5.4	0,1,2202	187	154	165		2163	0.3	0	19	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EMR1	NM_001974.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		721/887	6926553	2,13004	2203	4300	6503	6877553	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2163G>A	19.37:g.6926553G>A			6877553	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	CCDS12175.1																																																																																				0.512	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			A	6926553	G	A	6926553	2	1	87	1	0	0	0	0	0	0	0	1	5104	1045	37	1		1	EMR1	19	6926553	Silent	SNP	G	TCGA-13-0800-01A-01W-0372-09		6926553	52202430	32	4594											
PNPLA6	10908	genome.wustl.edu	37	19	7614842	7614842	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr19:7614842G>A	ENST00000221249.6	+	17	1972	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R553H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R562H|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R488H|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R514H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	553					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.R514H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GTGTACCAGCGCATGATCGAC	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											98	80	86					19																	7614842		2203	4300	6503	7520842	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1541G>A	19.37:g.7614842G>A	ENSP00000221249:p.Arg514His		7520842	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086627	0.94100	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.17	5.17	0.71159	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.058070	0.64402	D	0.000003	D	0.95159	0.8431	M	0.73598	2.24	0.58432	D	0.999994	D;D;D;D	0.65815	0.991;0.989;0.995;0.989	P;P;P;P	0.61940	0.896;0.832;0.873;0.832	D	0.95137	0.8260	10	0.52906	T	0.07	.	16.1907	0.81987	0.0:0.0:1.0:0.0	.	553;488;553;514	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	H	514;488;562;514	ENSP00000221249:R514H;ENSP00000443323:R488H;ENSP00000407509:R562H;ENSP00000394348:R514H	ENSP00000221249:R514H	R	+	2	0	PNPLA6	7520842	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.637000	0.74304	2.410000	0.81850	0.555000	0.69702	CGC		0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		A	7614842	G	A	7614842	3	1	87	1	0	0	0	0	1	0	0	0	12169	1087	38	1	1743	1	PNPLA6	19	7614842	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09	688289	7614842	51514141	33	4595											
C19orf57	79173	genome.wustl.edu	37	19	14006340	14006340	+	Silent	SNP	T	T	G			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr19:14006340T>G	ENST00000586783.1	-	2	50	c.51A>C	c.(49-51)ccA>ccC	p.P17P	C19orf57_ENST00000591586.1_Silent_p.P17P|C19orf57_ENST00000346736.2_Silent_p.P17P|C19orf57_ENST00000454313.1_Silent_p.P17P			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	17					multicellular organismal development (GO:0007275)			p.P17P(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TTAGGGGTTTTGGAGGACAGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	19											140	149	146					19																	14006340		2203	4300	6503	13867340	SO:0001819	synonymous_variant	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.51A>C	19.37:g.14006340T>G			13867340	Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37																																																																																					0.542	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		G	14006340	T	G	14006340	2	3	87	1	0	0	0	0	0	0	0	1	1939	1799	63	5		5	C19orf57	19	14006340	Silent	SNP	T	TCGA-13-0800-01A-01W-0372-09	6391498	14006340	45122643	34	4596											
ZNF493	284443	genome.wustl.edu	37	19	21607383	21607383	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr19:21607383C>A	ENST00000355504.4	+	2	1804	c.1538C>A	c.(1537-1539)tCc>tAc	p.S513Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S641Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	513					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.S513Y(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTTAAGCGGTCCTCACACCTC	0.373																																																1	Substitution - Missense(1)	ovary(1)	19											43	48	46					19																	21607383		2199	4292	6491	21399223	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1538C>A	19.37:g.21607383C>A	ENSP00000347691:p.Ser513Tyr		21399223	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.702619	0.00719	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07908	3.15;3.15	0.361	-0.721	0.11189	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.17800	0.525	0.09310	N	1	P;B	0.41475	0.751;0.322	B;B	0.31869	0.137;0.072	T	0.30909	-0.9962	9	0.32370	T	0.25	.	0.7662	0.01016	0.1929:0.2315:0.3603:0.2154	.	513;641	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	641;513	ENSP00000376110:S641Y;ENSP00000347691:S513Y	ENSP00000347691:S513Y	S	+	2	0	ZNF493	21399223	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.673000	0.01951	-1.959000	0.01018	-2.013000	0.00436	TCC		0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		A	21607383	C	A	21607383	3	1	87	1	0	0	0	0	1	0	0	0	17944	855	30	3	1999	3	ZNF493	19	21607383	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09	7601043	21607383	37521600	35	4597											
CCDC123	84902	genome.wustl.edu	37	19	33424370	33424370	+	Silent	SNP	C	C	T	rs138753622		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr19:33424370C>T	ENST00000305768.5	-	8	961	c.873G>A	c.(871-873)gcG>gcA	p.A291A	CEP89_ENST00000590597.2_Silent_p.A291A	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	291					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.A291A(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CCTGTGACGACGCCTTCTCAG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	19						C		1,4405	2.1+/-5.4	0,1,2202	209	189	196		873	-10.2	0	19	dbSNP_134	196	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	CEP89	NM_032816.3		0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461		291/784	33424370	6,13000	2203	4300	6503	38116210	SO:0001819	synonymous_variant	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.873G>A	19.37:g.33424370C>T			38116210	B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	CCDS32987.1																																																																																				0.383	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		T	33424370	C	T	33424370	2	4	87	1	0	0	0	0	0	0	0	1	2759	523	19	1		1	CCDC123	19	33424370	Silent	SNP	C	TCGA-13-0800-01A-01W-0372-09	11816987	33424370	25704613	36	4598											
MYBPC2	4606	genome.wustl.edu	37	19	50939920	50939920	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr19:50939920G>A	ENST00000357701.5	+	5	443	c.392G>A	c.(391-393)cGt>cAt	p.R131H		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	131	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R131H(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTGGGGGACCGTGGGTATTAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											105	104	104					19																	50939920		2040	4164	6204	55631732	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.392G>A	19.37:g.50939920G>A	ENSP00000350332:p.Arg131His		55631732	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.402999	0.42613	.	.	ENSG00000086967	ENST00000357701	T	0.67345	-0.26	3.24	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.480353	0.14618	U	0.308594	T	0.61515	0.2353	L	0.54323	1.7	0.26891	N	0.967327	P	0.39964	0.697	B	0.41374	0.355	T	0.58978	-0.7540	10	0.66056	D	0.02	.	8.4179	0.32683	0.1163:0.0:0.8837:0.0	.	131	Q14324	MYPC2_HUMAN	H	131	ENSP00000350332:R131H	ENSP00000350332:R131H	R	+	2	0	MYBPC2	55631732	0.993000	0.37304	0.979000	0.43373	0.554000	0.35429	2.350000	0.44063	2.142000	0.66516	0.450000	0.29827	CGT		0.627	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		A	50939920	G	A	50939920	3	1	87	1	0	0	0	0	1	0	0	0	10012	1145	40	1	410	1	MYBPC2	19	50939920	Missense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09	17515550	50939920	8189063	37	4599											
ZNF614	80110	genome.wustl.edu	37	19	52520435	52520435	+	Nonsense_Mutation	SNP	G	G	C			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr19:52520435G>C	ENST00000270649.6	-	5	960	c.416C>G	c.(415-417)tCa>tGa	p.S139*	ZNF614_ENST00000356322.6_Nonsense_Mutation_p.S139*	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S139*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACTTAAACTTGATTTCAAATT	0.328																																																1	Substitution - Nonsense(1)	ovary(1)	19											90	85	87					19																	52520435		2203	4299	6502	57212247	SO:0001587	stop_gained	80110			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.416C>G	19.37:g.52520435G>C	ENSP00000270649:p.Ser139*		57212247	Q494T8|Q8TCF4|Q9BSN8	Nonsense_Mutation	SNP	ENST00000270649.6	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	36	5.859516	0.97036	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	.	.	.	3.53	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	5.5131	0.16892	0.1185:0.0:0.6808:0.2006	.	.	.	.	X	139	.	ENSP00000270649:S139X	S	-	2	0	ZNF614	57212247	0.053000	0.20554	0.016000	0.15963	0.303000	0.27691	1.765000	0.38481	1.798000	0.52647	0.591000	0.81541	TCA		0.328	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		C	52520435	G	C	52520435	4	2	87	1	0	0	0	0	0	1	0	0	18039	1294	45	3	1345	3	ZNF614	19	52520435	Nonsense_Mutation	SNP	G	TCGA-13-0800-01A-01W-0372-09	1580515	52520435	6608548	38	4600											
RPN2	6185	genome.wustl.edu	37	20	35862472	35862472	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr20:35862472C>T	ENST00000237530.6	+	15	2038	c.1727C>T	c.(1726-1728)aCg>aTg	p.T576M	RPN2_ENST00000373622.5_Missense_Mutation_p.T544M|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	576					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)	p.T576M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GCTCCTAGCACGATTATATTT	0.448																																																1	Substitution - Missense(1)	ovary(1)	20											141	119	126					20																	35862472		2203	4300	6503	35295886	SO:0001583	missense	6185			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1727C>T	20.37:g.35862472C>T	ENSP00000237530:p.Thr576Met		35295886	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342897	0.82022	.	.	ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000373623;ENST00000437329	T;T;T	0.50548	0.74;0.74;0.74	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.66172	-0.5990	10	0.44086	T	0.13	-8.9984	16.4462	0.83935	0.0:1.0:0.0:0.0	.	544;576	Q5JYR6;P04844	.;RPN2_HUMAN	M	576;544;83;100;83	ENSP00000237530:T576M;ENSP00000362724:T544M;ENSP00000409580:T83M	ENSP00000237530:T576M	T	+	2	0	RPN2	35295886	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.269000	0.65542	2.735000	0.93741	0.655000	0.94253	ACG		0.448	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		T	35862472	C	T	35862472	3	4	87	1	0	0	0	0	1	0	0	0	13611	536	19	1	1785	1	RPN2	20	35862472	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09		35862472	27163048	39	4601											
TGM2	7052	genome.wustl.edu	37	20	36779362	36779362	+	Silent	SNP	G	G	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr20:36779362G>A	ENST00000361475.2	-	4	704	c.531C>T	c.(529-531)aaC>aaT	p.N177N	TGM2_ENST00000536724.1_Silent_p.N117N|TGM2_ENST00000536701.1_Silent_p.N96N	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	177					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.N177N(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TCCAAGGTATGTTCTTGATGA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	20											164	151	156					20																	36779362		2203	4300	6503	36212776	SO:0001819	synonymous_variant	7052			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.531C>T	20.37:g.36779362G>A			36212776	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	CCDS13302.1																																																																																				0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		A	36779362	G	A	36779362	2	1	87	1	0	0	0	0	0	0	0	1	15830	1368	48	2		2	TGM2	20	36779362	Silent	SNP	G	TCGA-13-0800-01A-01W-0372-09	916890	36779362	26246158	40	4602											
PTPRT	11122	genome.wustl.edu	37	20	41306562	41306562	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr20:41306562C>A	ENST00000373187.1	-	7	1096	c.1097G>T	c.(1096-1098)gGt>gTt	p.G366V	PTPRT_ENST00000373193.3_Missense_Mutation_p.G366V|PTPRT_ENST00000373190.1_Missense_Mutation_p.G366V|PTPRT_ENST00000356100.2_Missense_Mutation_p.G366V|PTPRT_ENST00000373184.1_Missense_Mutation_p.G366V|PTPRT_ENST00000373201.1_Missense_Mutation_p.G366V|PTPRT_ENST00000373198.4_Missense_Mutation_p.G366V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	366	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.G366V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCCCCTCACCTGGTCGTGT	0.562																																																1	Substitution - Missense(1)	ovary(1)	20											97	97	97					20																	41306562		1941	4140	6081	40739976	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1097G>T	20.37:g.41306562C>A	ENSP00000362283:p.Gly366Val		40739976	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546741	0.86022	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	M	0.87180	2.865	0.80722	D	1	D;D	0.56968	0.973;0.978	P;P	0.60473	0.802;0.875	D	0.95237	0.8348	10	0.87932	D	0	.	19.1814	0.93625	0.0:1.0:0.0:0.0	.	366;366	O14522-1;O14522	.;PTPRT_HUMAN	V	366	ENSP00000362286:G366V;ENSP00000362283:G366V;ENSP00000362289:G366V;ENSP00000348408:G366V;ENSP00000362294:G366V;ENSP00000362280:G366V;ENSP00000362297:G366V	ENSP00000348408:G366V	G	-	2	0	PTPRT	40739976	1.000000	0.71417	0.974000	0.42286	0.793000	0.44817	7.776000	0.85560	2.705000	0.92388	0.655000	0.94253	GGT		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	41306562	C	A	41306562	3	1	87	1	0	0	0	0	1	0	0	0	12815	507	18	3	3389	3	PTPRT	20	41306562	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09	4527200	41306562	21718958	41	4603											
TOX2	84969	genome.wustl.edu	37	20	42693489	42693489	+	Intron	SNP	G	G	A	rs142800786		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chr20:42693489G>A	ENST00000358131.5	+	6	1114				TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Missense_Mutation_p.V318I|TOX2_ENST00000423191.2_Missense_Mutation_p.V276I|TOX2_ENST00000372999.1_Missense_Mutation_p.V276I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2						female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V276I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCTAGCCTCGTCTCCAAGGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	20						G	ILE/VAL,ILE/VAL,ILE/VAL,	1,4405	2.1+/-5.4	0,1,2202	77	73	74		826,952,826,	5.6	1	20	dbSNP_134	74	0,8600		0,0,4300	no	missense,missense,missense,intron	TOX2	NM_001098796.1,NM_001098797.1,NM_032883.2,NM_001098798.1	29,29,29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	276/465,318/507,276/465,	42693489	1,13005	2203	4300	6503	42126903	SO:0001627	intron_variant	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.907-863G>A	20.37:g.42693489G>A			42126903	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160960	0.94727	2.27E-4	0.0	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000435864	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.57	5.57	0.84162	.	0.938103	0.08996	N	0.863695	T	0.63977	0.2557	L	0.52206	1.635	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.76071	0.969;0.987;0.959	T	0.57900	-0.7731	10	0.72032	D	0.01	.	18.1263	0.89586	0.0:0.0:1.0:0.0	.	196;318;276	B4DQV8;G3XAC7;E1P5X0	.;.;.	I	318;276;276;196	ENSP00000344724:V318I;ENSP00000390278:V276I;ENSP00000362090:V276I;ENSP00000396777:V196I	ENSP00000344724:V318I	V	+	1	0	TOX2	42126903	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.476000	0.97823	2.620000	0.88729	0.563000	0.77884	GTC		0.577	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			A	42693489	G	A	42693489	1	1	87	0	1	0	0	0	0	0	0	0	16378	1145	40	1		1	TOX2	20	42693489	Intron	SNP	G	TCGA-13-0800-01A-01W-0372-09	1386927	42693489	20332031	42	4604											
DMD	1756	genome.wustl.edu	37	X	32663206	32663206	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chrX:32663206C>T	ENST00000357033.4	-	10	1230	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	DMD_ENST00000378677.2_Missense_Mutation_p.D338N|DMD_ENST00000288447.4_Missense_Mutation_p.D334N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	342					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D337N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGATAACGGTCCAGGTTTACT	0.393																																																1	Substitution - Missense(1)	ovary(1)	X											194	167	176					X																	32663206		2202	4300	6502	32573127	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1024G>A	X.37:g.32663206C>T	ENSP00000354923:p.Asp342Asn		32573127	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653567	0.88056	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.50548	0.74;0.74;0.74	5.67	5.67	0.87782	.	0.000000	0.38720	U	0.001592	T	0.63768	0.2539	L	0.60455	1.87	0.80722	D	1	P;P;P;P;P	0.52170	0.939;0.939;0.925;0.951;0.939	P;P;P;P;P	0.58660	0.795;0.795;0.621;0.843;0.739	T	0.64935	-0.6290	10	0.66056	D	0.02	.	19.0236	0.92923	0.0:1.0:0.0:0.0	.	338;334;334;342;338	B1AK23;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	N	334;338;342;342;219;334	ENSP00000367948:D338N;ENSP00000354923:D342N;ENSP00000288447:D334N	ENSP00000288447:D334N	D	-	1	0	DMD	32573127	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.783000	0.68982	2.527000	0.85204	0.600000	0.82982	GAC		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32663206	C	T	32663206	3	4	87	1	0	0	0	0	1	0	0	0	4580	855	30	2	10556	2	DMD	23	32663206	Missense_Mutation	SNP	C	TCGA-13-0800-01A-01W-0372-09		32663206	122607354	43	4605											
ZNF674	641339	genome.wustl.edu	37	X	46360298	46360298	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chrX:46360298A>T	ENST00000523374.1	-	6	936	c.726T>A	c.(724-726)caT>caA	p.H242Q	ZNF674_ENST00000518795.1_5'Flank|ZNF674_ENST00000414387.2_Missense_Mutation_p.H236Q	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H242Q(1)		breast(2)	2						GAGTTCTTTGATGTACAACTA	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											12	10	11					X																	46360298		1811	3991	5802	46245242	SO:0001583	missense	641339			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"Zinc fingers, C2H2-type", "-"	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.726T>A	X.37:g.46360298A>T	ENSP00000429148:p.His242Gln		46245242	B4DHE2|E9PHQ4	Missense_Mutation	SNP	ENST00000523374.1	37	CCDS48099.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308900	0.40895	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	D;D	0.86865	-2.18;-2.18	2.13	-0.356	0.12583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94152	0.8124	H	0.96518	3.835	0.21802	N	0.999532	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84814	0.0792	9	0.87932	D	0	.	5.6916	0.17833	0.4645:0.0:0.5355:0.0	.	236;242	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	Q	242;236	ENSP00000429148:H242Q;ENSP00000428248:H236Q	ENSP00000428248:H236Q	H	-	3	2	ZNF674	46245242	0.199000	0.23386	0.920000	0.36463	0.787000	0.44495	0.087000	0.14958	-0.156000	0.11079	0.430000	0.28490	CAT		0.423	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891		T	46360298	A	T	46360298	3	4	87	1	0	0	0	0	1	0	0	0	18081	330	12	5	1023	5	ZNF674	23	46360298	Missense_Mutation	SNP	A	TCGA-13-0800-01A-01W-0372-09	13697092	46360298	108910262	44	4606											
RAB41	407	genome.wustl.edu	37	X	69502164	69502164	+	IGR	SNP	A	A	G			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chrX:69502164A>G	ENST00000307959.8	+	0	1292				RAB41_ENST00000276066.4_Missense_Mutation_p.K33E|RAB41_ENST00000374473.2_Missense_Mutation_p.K33E	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.K33E(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GTGCAAATCTAAACTCTTATT	0.557																																																1	Substitution - Missense(1)	ovary(1)	X											99	79	86					X																	69502164		2203	4300	6503	69418889	SO:0001628	intergenic_variant	347517				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502164A>G			69418889	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219792	0.58560	.	.	ENSG00000147127	ENST00000374473;ENST00000276066	D;D	0.85861	-2.04;-2.04	4.54	1.99	0.26369	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000060	D	0.93706	0.7989	H	0.97962	4.115	0.09310	N	0.999999	D;D	0.76494	0.997;0.999	D;D	0.83275	0.911;0.996	D	0.85435	0.1151	10	0.87932	D	0	.	5.0074	0.14295	0.743:0.0:0.0936:0.1633	.	33;33	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	E	33	ENSP00000363597:K33E;ENSP00000276066:K33E	ENSP00000276066:K33E	K	+	1	0	RAB41	69418889	1.000000	0.71417	0.000000	0.03702	0.009000	0.06853	3.145000	0.50623	0.172000	0.19760	0.486000	0.48141	AAA		0.557	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		G	69502164	A	G	69502164	1	3	87	0	1	0	0	0	0	0	0	0	12946	363	13	4		4	RAB41	23	69502164	IGR	SNP	A	TCGA-13-0800-01A-01W-0372-09	23141866	69502164	85768396	45	4607											
AIFM1	9131	genome.wustl.edu	37	X	129271123	129271123	+	Silent	SNP	G	G	C	rs371944474		TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chrX:129271123G>C	ENST00000287295.3	-	10	1235	c.1005C>G	c.(1003-1005)ccC>ccG	p.P335P	AIFM1_ENST00000346424.2_Silent_p.P48P|AIFM1_ENST00000440263.1_5'UTR|AIFM1_ENST00000319908.3_Silent_p.P331P|AIFM1_ENST00000460436.2_5'UTR|AIFM1_ENST00000535724.1_3'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	335	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.P331P(1)|p.P335P(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TTCCTTTCTCGGGGAAGAGTT	0.468																																																2	Substitution - coding silent(2)	ovary(2)	X											161	134	143					X																	129271123		2203	4300	6503	129098804	SO:0001819	synonymous_variant	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1005C>G	X.37:g.129271123G>C			129098804	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	CCDS14618.1																																																																																				0.468	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			C	129271123	G	C	129271123	2	2	87	1	0	0	0	0	0	0	0	1	426	1103	39	3		3	AIFM1	23	129271123	Silent	SNP	G	TCGA-13-0800-01A-01W-0372-09	59768959	129271123	25999437	46	4608											
RBMX	27316	genome.wustl.edu	37	X	135957727	135957727	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0800-01A-01W-0372-09	TCGA-13-0800-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	757862e3-0392-4e05-a242-25e3d2094ee8	7bd7b34c-778d-421d-b80e-17ecba029854	g.chrX:135957727T>C	ENST00000320676.7	-	6	713	c.559A>G	c.(559-561)Aga>Gga	p.R187G	RBMX_ENST00000562646.1_Missense_Mutation_p.R187G|RBMX_ENST00000570135.1_Missense_Mutation_p.R52G|RBMX_ENST00000565438.1_Missense_Mutation_p.R59G|RBMX_ENST00000431446.3_Silent_p.E78E|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	187	Necessary for the association to nascent RNAPII transcripts and nuclear localization.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R187G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TAACTATCTCTTCCACGTGAT	0.383																																																1	Substitution - Missense(1)	ovary(1)	X											63	61	62					X																	135957727		2203	4300	6503	135785393	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.559A>G	X.37:g.135957727T>C	ENSP00000359645:p.Arg187Gly		135785393	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.280819	0.59758	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.78481	-1.18	5.6	5.6	0.85130	RBM1CTR (1);	0.000000	0.85682	U	0.000000	D	0.86222	0.5881	.	.	.	0.58432	D	0.999991	B;D	0.63046	0.205;0.992	B;P	0.62885	0.143;0.908	D	0.86667	0.1908	8	.	.	.	.	14.9902	0.71381	0.0:0.0:0.0:1.0	.	187;174	P38159;Q8N8Y7	HNRPG_HUMAN;.	G	187;174	ENSP00000359645:R187G	.	R	-	1	2	RBMX	135785393	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.667000	0.54547	1.990000	0.58119	0.486000	0.48141	AGA		0.383	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		C	135957727	T	C	135957727	3	2	87	1	0	0	0	0	1	0	0	0	13154	1618	56	4	687	4	RBMX	23	135957727	Missense_Mutation	SNP	T	TCGA-13-0800-01A-01W-0372-09	6686604	135957727	19312833	47	4609											
NFASC	23114	hgsc.bcm.edu	37	1	204923324	204923324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr1:204923324G>A	ENST00000401399.1	+	5	423	c.224G>A	c.(223-225)tGg>tAg	p.W75*	NFASC_ENST00000367170.4_Nonsense_Mutation_p.W75*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.W69*|NFASC_ENST00000404907.1_Nonsense_Mutation_p.W69*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.W75*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.W75*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.W69*|NFASC_ENST00000403080.1_Nonsense_Mutation_p.W75*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.W69*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.W69*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.W75*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.W75*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.W75*|NFASC_ENST00000367172.4_Nonsense_Mutation_p.W75*			O94856	NFASC_HUMAN	neurofascin	75	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.W69*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCTTCCACTGGACACGAAAC	0.607																																																1	Substitution - Nonsense(1)	ovary(1)	1											50	46	48					1																	204923324		2203	4300	6503	203189947	SO:0001587	stop_gained	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.224G>A	1.37:g.204923324G>A	ENSP00000385637:p.Trp75*		203189947	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Nonsense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.049395|8.049395	0.98629|0.98629	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.50627	.|D	.|0.000105	T|.	0.46737|.	0.1408|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39333|.	-0.9619|.	3|.	.|0.02654	.|T	.|1	.|.	18.6966|18.6966	0.91603|0.91603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	45|75;75;75;75;75;75;69;69;69;75;75;75;69;75;75;69;69;45	.|.	.|ENSP00000295776:W69X	G|W	+|+	1|2	0|0	NFASC|NFASC	203189947|203189947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	9.728000|9.728000	0.98792|0.98792	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.607	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		A	204923324	G	A	204923324	4	1	88	1	0	0	0	0	0	1	0	0	10359	1357	47	2	238	2	NFASC	1	204923324	Nonsense_Mutation	SNP	G	TCGA-13-0801-01A-01W-0370-10		204923324	44327297	1	4610											
NLRP3	114548	hgsc.bcm.edu	37	1	247597465	247597465	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr1:247597465C>A	ENST00000336119.3	+	5	3134	c.2388C>A	c.(2386-2388)agC>agA	p.S796R	NLRP3_ENST00000366496.2_Missense_Mutation_p.S796R|NLRP3_ENST00000366497.2_Missense_Mutation_p.S796R|NLRP3_ENST00000391827.2_Missense_Mutation_p.S739R|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739R|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796R	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	796					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.S796R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTCAGCAGCAACCAGAAGC	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											131	121	124					1																	247597465		2203	4300	6503	245664088	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2388C>A	1.37:g.247597465C>A	ENSP00000337383:p.Ser796Arg		245664088	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	c	4.230	0.041539	0.08196	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.93076	0.59;0.57;0.59;-3.16;0.57;-3.16	3.44	1.58	0.23477	.	0.747174	0.12005	N	0.508408	D	0.90676	0.7075	M	0.71036	2.16	0.09310	N	1	B;B;B;B	0.30973	0.015;0.302;0.025;0.295	B;B;B;B	0.32465	0.009;0.146;0.036;0.093	T	0.81293	-0.0998	10	0.34782	T	0.22	.	5.7253	0.18010	0.0:0.7519:0.0:0.248	.	739;739;796;796	Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;NALP3_HUMAN	R	796;796;796;739;796;739	ENSP00000375704:S796R;ENSP00000355453:S796R;ENSP00000337383:S796R;ENSP00000294752:S739R;ENSP00000355452:S796R;ENSP00000375703:S739R	ENSP00000337383:S796R	S	+	3	2	NLRP3	245664088	0.000000	0.05858	0.442000	0.26870	0.554000	0.35429	0.409000	0.21082	0.481000	0.27557	-0.473000	0.04963	AGC		0.552	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		A	247597465	C	A	247597465	3	1	88	1	0	0	0	0	1	0	0	0	10478	709	25	3	2406	3	NLRP3	1	247597465	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10	42674141	247597465	1653156	2	4611											
TTN	7273	hgsc.bcm.edu	37	2	179440550	179440550	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr2:179440550C>A	ENST00000591111.1	-	276	65610	c.65386G>T	c.(65386-65388)Ggc>Tgc	p.G21796C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23437C|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20869C|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14564C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497C|TTN_ENST00000460472.2_Missense_Mutation_p.G14372C|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21796				PGPVLN -> ARPSPQ (in Ref. 13; CAA45939). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G14372C(1)|p.G20867C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACTGGGCCTGGCGTGTCC	0.493																																																2	Substitution - Missense(2)	ovary(2)	2											94	101	98					2																	179440550		2103	4242	6345	179148796	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65386G>T	2.37:g.179440550C>A	ENSP00000465570:p.Gly21796Cys		179148796	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	14.17	2.456581	0.43634	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.67	5.67	0.87782	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83562	0.5281	H	0.97240	3.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89028	0.3440	9	0.87932	D	0	.	19.7429	0.96238	0.0:1.0:0.0:0.0	.	14372;14497;14564;21796	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	20869;14372;14564;14497;14370	ENSP00000343764:G20869C;ENSP00000434586:G14372C;ENSP00000340554:G14564C;ENSP00000352154:G14497C	ENSP00000340554:G14564C	G	-	1	0	TTN	179148796	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.685000	0.91497	0.655000	0.94253	GGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179440550	C	A	179440550	3	1	88	1	0	0	0	0	1	0	0	0	16735	681	24	3	37818	3	TTN	2	179440550	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10		179440550	63758823	3	4612											
PGM2	55276	hgsc.bcm.edu	37	4	37851851	37851851	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr4:37851851C>G	ENST00000381967.4	+	12	1559	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	PGM2_ENST00000537241.1_Missense_Mutation_p.Q327E	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	487					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.Q487E(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTGCCATGATCAAGAAACCAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	4											51	54	53					4																	37851851		2203	4300	6503	37528246	SO:0001583	missense	55276			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1459C>G	4.37:g.37851851C>G	ENSP00000371393:p.Gln487Glu		37528246	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821641	0.50633	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.28895	1.59;1.59	5.53	5.53	0.82687	.	0.164709	0.56097	D	0.000033	T	0.38692	0.1050	M	0.71296	2.17	0.58432	D	0.999998	B	0.22480	0.07	B	0.21708	0.036	T	0.16335	-1.0406	10	0.39692	T	0.17	-11.5949	19.4755	0.94985	0.0:1.0:0.0:0.0	.	487	Q96G03	PGM2_HUMAN	E	487;327	ENSP00000371393:Q487E;ENSP00000437342:Q327E	ENSP00000371393:Q487E	Q	+	1	0	PGM2	37528246	1.000000	0.71417	0.994000	0.49952	0.756000	0.42949	5.956000	0.70315	2.605000	0.88082	0.650000	0.86243	CAA		0.318	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		G	37851851	C	G	37851851	3	3	88	1	0	0	0	0	1	0	0	0	11798	827	29	3	1505	3	PGM2	4	37851851	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10		37851851	153302425	4	4613											
NDST4	64579	hgsc.bcm.edu	37	4	115997244	115997244	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr4:115997244C>G	ENST00000264363.2	-	2	1627	c.949G>C	c.(949-951)Gga>Cga	p.G317R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	317	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.G317R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCCTTGTTCCCTCTTTCCCA	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											101	89	93					4																	115997244		2203	4300	6503	116216693	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.949G>C	4.37:g.115997244C>G	ENSP00000264363:p.Gly317Arg		116216693	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217986	0.79352	.	.	ENSG00000138653	ENST00000264363	T	0.48201	0.82	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.91717	3.235	0.80722	D	1	P	0.42357	0.777	P	0.57548	0.823	T	0.78940	-0.2006	10	0.87932	D	0	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	317	Q9H3R1	NDST4_HUMAN	R	317	ENSP00000264363:G317R	ENSP00000264363:G317R	G	-	1	0	NDST4	116216693	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.770000	0.85390	2.727000	0.93392	0.591000	0.81541	GGA		0.368	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		G	115997244	C	G	115997244	3	3	88	1	0	0	0	0	1	0	0	0	10258	632	22	3	1721	3	NDST4	4	115997244	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10	78145393	115997244	75157032	5	4614											
TRIO	7204	hgsc.bcm.edu	37	5	14374353	14374353	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr5:14374353C>G	ENST00000344204.4	+	19	3256	c.3232C>G	c.(3232-3234)Cgg>Ggg	p.R1078G	TRIO_ENST00000509967.2_Missense_Mutation_p.R1029G|TRIO_ENST00000537187.1_Missense_Mutation_p.R1078G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1078					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1078G(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACCCTTGCTCGGAGGAATGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	5											108	95	100					5																	14374353		2203	4300	6503	14427353	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3232C>G	5.37:g.14374353C>G	ENSP00000339299:p.Arg1078Gly		14427353	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210471	0.39102	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.40756	1.02;1.02;1.02	5.67	0.495	0.16890	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	M	0.79926	2.475	0.50171	D	0.999856	D;D;D	0.76494	0.999;0.994;0.997	D;D;D	0.87578	0.998;0.963;0.987	T	0.70641	-0.4816	10	0.51188	T	0.08	.	17.3132	0.87215	0.3417:0.6583:0.0:0.0	.	1029;1078;1078	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	G	1078;1078;1029;765	ENSP00000339299:R1078G;ENSP00000446348:R1078G;ENSP00000445592:R1029G	ENSP00000339299:R1078G	R	+	1	2	TRIO	14427353	0.011000	0.17503	0.811000	0.32455	0.859000	0.49053	0.290000	0.18975	0.064000	0.16427	-0.274000	0.10170	CGG		0.453	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14374353	C	G	14374353	3	3	88	1	0	0	0	0	1	0	0	0	16552	875	31	3	3306	3	TRIO	5	14374353	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10		14374353	166540907	6	4615											
DSP	1832	hgsc.bcm.edu	37	6	7581029	7581029	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr6:7581029A>T	ENST00000379802.3	+	23	4947	c.4606A>T	c.(4606-4608)Aca>Tca	p.T1536S	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1536	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T1536S(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAAGAACTGACACGCCTGAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	6											121	122	122					6																	7581029		2203	4300	6503	7526028	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4606A>T	6.37:g.7581029A>T	ENSP00000369129:p.Thr1536Ser		7526028	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	5.591	0.293880	0.10567	.	.	ENSG00000096696	ENST00000379802	T	0.69926	-0.44	5.85	-0.687	0.11320	.	0.806919	0.11343	N	0.573806	T	0.17916	0.0430	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.09084	T	0.74	.	5.1226	0.14867	0.4183:0.2774:0.3042:0.0	.	1536	P15924	DESP_HUMAN	S	1536	ENSP00000369129:T1536S	ENSP00000369129:T1536S	T	+	1	0	DSP	7526028	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-0.126000	0.10563	-0.093000	0.12396	0.533000	0.62120	ACA		0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7581029	A	T	7581029	3	4	88	1	0	0	0	0	1	0	0	0	4781	275	10	5	4696	5	DSP	6	7581029	Missense_Mutation	SNP	A	TCGA-13-0801-01A-01W-0370-10		7581029	163534038	7	4616											
BRD2	6046	hgsc.bcm.edu	37	6	32948121	32948121	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr6:32948121A>C	ENST00000374825.4	+	12	3850	c.2149A>C	c.(2149-2151)Att>Ctt	p.I717L	BRD2_ENST00000395287.1_Missense_Mutation_p.I752L|BRD2_ENST00000449085.2_Missense_Mutation_p.I670L|BRD2_ENST00000374831.4_Missense_Mutation_p.I717L|BRD2_ENST00000395289.2_Missense_Mutation_p.I752L|BRD2_ENST00000443797.2_Missense_Mutation_p.I597L	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	717					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.I752L(1)		central_nervous_system(3)|stomach(2)	5						TTCATTAGCCATTAAGAAGCC	0.443																																																1	Substitution - Missense(1)	ovary(1)	6											90	105	100					6																	32948121		1509	2709	4218	33056099	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2149A>C	6.37:g.32948121A>C	ENSP00000363958:p.Ile717Leu		33056099	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	A	1.366	-0.587354	0.03799	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.18016	4.35;4.35;4.35;2.24;4.35;4.35	5.04	3.85	0.44370	.	0.138453	0.33253	N	0.005120	T	0.01730	0.0055	N	0.08118	0	0.30927	N	0.727331	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46428	-0.9192	10	0.08837	T	0.75	-7.4889	4.6567	0.12620	0.7045:0.1895:0.106:0.0	.	752;717	A2AAU0;P25440	.;BRD2_HUMAN	L	717;717;752;597;752;670	ENSP00000363958:I717L;ENSP00000363964:I717L;ENSP00000378704:I752L;ENSP00000413495:I597L;ENSP00000378702:I752L;ENSP00000409145:I670L	ENSP00000363958:I717L	I	+	1	0	BRD2	33056099	0.998000	0.40836	0.996000	0.52242	0.006000	0.05464	3.761000	0.55242	0.900000	0.36469	-0.427000	0.05922	ATT		0.443	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			C	32948121	A	C	32948121	3	2	88	1	0	0	0	0	1	0	0	0	1502	217	8	5	2191	5	BRD2	6	32948121	Missense_Mutation	SNP	A	TCGA-13-0801-01A-01W-0370-10	25367092	32948121	138166946	8	4617											
CNKSR3	154043	hgsc.bcm.edu	37	6	154727785	154727785	+	Splice_Site	SNP	C	C	T			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr6:154727785C>T	ENST00000607772.1	-	13	1915	c.1371G>A	c.(1369-1371)ggG>ggA	p.G457G	CNKSR3_ENST00000479339.1_Splice_Site_p.G377G|CNKSR3_ENST00000433165.2_Splice_Site_p.G282G	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	457	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.G457G(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGGCATCCTCCCCTGTTTCCA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	6											32	31	32					6																	154727785		2203	4300	6503	154769477	SO:0001630	splice_region_variant	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1370-1G>A	6.37:g.154727785C>T			154769477	Q5SGD5|Q96N65	Splice_Site	SNP	ENST00000607772.1	37	CCDS5246.1																																																																																				0.567	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	Silent	T	154727785	C	T	154727785	5	4	88	1	0	0	0	0	0	0	1	0	3608	637	22	2	300	2	CNKSR3	6	154727785	Splice_Site	SNP	C	TCGA-13-0801-01A-01W-0370-10	121779664	154727785	16387282	9	4618											
EGR2	1959	hgsc.bcm.edu	37	10	64575657	64575657	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr10:64575657C>G	ENST00000242480.3	-	1	458	c.133G>C	c.(133-135)Gga>Cga	p.G45R	EGR2_ENST00000439032.1_Missense_Mutation_p.G45R|EGR2_ENST00000411732.1_5'UTR|EGR2_ENST00000493899.2_5'UTR	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	45					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.G45R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAGGGGCCTCCCAGTTCGGCA	0.627																																																1	Substitution - Missense(1)	ovary(1)	10											97	93	95					10																	64575657		2203	4300	6503	64245663	SO:0001583	missense	1959			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.133G>C	10.37:g.64575657C>G	ENSP00000242480:p.Gly45Arg		64245663	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039423	0.75617	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000432380	T;T	0.17370	2.28;2.28	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.09228	-1.0684	10	0.87932	D	0	-5.9044	16.7007	0.85349	0.0:1.0:0.0:0.0	.	45	P11161	EGR2_HUMAN	R	45;45;58	ENSP00000242480:G45R;ENSP00000402040:G45R	ENSP00000242480:G45R	G	-	1	0	EGR2	64245663	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.749000	0.55150	2.548000	0.85928	0.556000	0.70494	GGA		0.627	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		G	64575657	C	G	64575657	3	3	88	1	0	0	0	0	1	0	0	0	4972	632	22	3	1305	3	EGR2	10	64575657	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10		64575657	70959090	10	4619											
NADSYN1	55191	hgsc.bcm.edu	37	11	71192419	71192419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr11:71192419G>A	ENST00000319023.2	+	12	1204	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_5'UTR|NADSYN1_ENST00000539574.1_Nonsense_Mutation_p.W79*	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	339	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.W339*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCTGCCTGCTGGCTCTGGGAT	0.567																																					Ovarian(79;763 1781 6490 50276)											1	Substitution - Nonsense(1)	ovary(1)	11											98	108	104					11																	71192419		2200	4294	6494	70870067	SO:0001587	stop_gained	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1016G>A	11.37:g.71192419G>A	ENSP00000326424:p.Trp339*		70870067	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Nonsense_Mutation	SNP	ENST00000319023.2	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	44	10.881768	0.99483	.	.	ENSG00000172890	ENST00000319023;ENST00000539574	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1609	16.0537	0.80779	0.0:0.0:1.0:0.0	.	.	.	.	X	339;79	.	ENSP00000326424:W339X	W	+	2	0	NADSYN1	70870067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.388000	0.81334	0.561000	0.74099	TGG		0.567	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		A	71192419	G	A	71192419	4	1	88	1	0	0	0	0	0	1	0	0	10138	1357	47	2	1062	2	NADSYN1	11	71192419	Nonsense_Mutation	SNP	G	TCGA-13-0801-01A-01W-0370-10		71192419	63814097	11	4620											
ENDOU	8909	hgsc.bcm.edu	37	12	48105555	48105555	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr12:48105555C>T	ENST00000422538.3	-	9	1098	c.976G>A	c.(976-978)Gat>Aat	p.D326N	ENDOU_ENST00000229003.3_Missense_Mutation_p.D285N|ENDOU_ENST00000542202.1_Intron|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Missense_Mutation_p.D263N	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	326					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)	p.D285N(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						GGGTAAGAATCCCACTGTGGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											62	57	58					12																	48105555		2203	4300	6503	46391822	SO:0001583	missense	8909			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"Serine peptidases / Serine peptidases"	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.976G>A	12.37:g.48105555C>T	ENSP00000397679:p.Asp326Asn		46391822	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	37	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324529	0.41197	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32515	1.45;1.46	6.11	4.27	0.50696	.	0.308345	0.40554	N	0.001068	T	0.28632	0.0709	L	0.58510	1.815	0.80722	D	1	B;B;B	0.25772	0.077;0.032;0.134	B;B;B	0.27170	0.046;0.077;0.045	T	0.07385	-1.0775	10	0.32370	T	0.25	-16.88	8.8238	0.35043	0.0:0.7683:0.0:0.2317	.	263;326;285	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	N	285;326;263	ENSP00000229003:D285N;ENSP00000397679:D326N	ENSP00000229003:D285N	D	-	1	0	ENDOU	46391822	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	1.187000	0.32090	1.591000	0.50007	0.655000	0.94253	GAT		0.542	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		T	48105555	C	T	48105555	3	4	88	1	0	0	0	0	1	0	0	0	5116	855	30	2	264	2	ENDOU	12	48105555	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10		48105555	85746340	12	4621											
MARS	4141	hgsc.bcm.edu	37	12	57898051	57898051	+	Missense_Mutation	SNP	C	C	G	rs562565076		TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr12:57898051C>G	ENST00000262027.5	+	11	1471	c.1337C>G	c.(1336-1338)tCg>tGg	p.S446W	MARS_ENST00000315473.5_Missense_Mutation_p.S212W|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	446					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.S446W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTGGTGCAGTCGAGCCAGCAC	0.547																																																1	Substitution - Missense(1)	ovary(1)	12											132	123	126					12																	57898051		2203	4300	6503	56184318	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1337C>G	12.37:g.57898051C>G	ENSP00000262027:p.Ser446Trp		56184318	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178787	0.57692	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.47528	1.4;0.84	4.77	4.77	0.60923	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.057656	0.64402	D	0.000001	T	0.73713	0.3622	M	0.88241	2.94	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.80764	0.865;0.994;0.994	T	0.80276	-0.1450	10	0.87932	D	0	-10.3543	16.9243	0.86172	0.0:1.0:0.0:0.0	.	212;319;446	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	W	446;212	ENSP00000262027:S446W;ENSP00000314653:S212W	ENSP00000262027:S446W	S	+	2	0	MARS	56184318	1.000000	0.71417	0.847000	0.33407	0.109000	0.19521	7.155000	0.77445	2.364000	0.80123	0.591000	0.81541	TCG		0.547	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		G	57898051	C	G	57898051	3	3	88	1	0	0	0	0	1	0	0	0	9316	893	31	3	1379	3	MARS	12	57898051	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10	9792496	57898051	75953844	13	4622											
TEP1	7011	hgsc.bcm.edu	37	14	20851795	20851795	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr14:20851795A>G	ENST00000262715.5	-	26	3759	c.3719T>C	c.(3718-3720)gTg>gCg	p.V1240A	TEP1_ENST00000556935.1_Missense_Mutation_p.V1132A|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1240	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1240A(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTCCCACACCAGGCTTCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	14											26	30	29					14																	20851795		2203	4300	6503	19921635	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3719T>C	14.37:g.20851795A>G	ENSP00000262715:p.Val1240Ala		19921635	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838269	0.71373	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.79454	-1.27;-1.27	5.73	5.73	0.89815	NACHT nucleoside triphosphatase (1);	0.161017	0.42053	D	0.000778	D	0.84361	0.5455	M	0.71036	2.16	0.80722	D	1	D;P;D	0.56968	0.972;0.932;0.978	P;P;P	0.57911	0.737;0.52;0.829	D	0.85003	0.0901	10	0.48119	T	0.1	-13.333	13.5466	0.61707	1.0:0.0:0.0:0.0	.	1132;590;1240	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	A	1240;1240;1132	ENSP00000262715:V1240A;ENSP00000452574:V1132A	ENSP00000262715:V1240A	V	-	2	0	TEP1	19921635	0.990000	0.36364	0.999000	0.59377	0.762000	0.43233	5.549000	0.67261	2.172000	0.68678	0.533000	0.62120	GTG		0.572	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20851795	A	G	20851795	3	3	88	1	0	0	0	0	1	0	0	0	15759	159	6	4	4284	4	TEP1	14	20851795	Missense_Mutation	SNP	A	TCGA-13-0801-01A-01W-0370-10		20851795	86497745	14	4623											
C15orf55	256646	hgsc.bcm.edu	37	15	34648451	34648451	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr15:34648451C>A	ENST00000333756.4	+	7	2313	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T	NUTM1_ENST00000438749.3_Missense_Mutation_p.P738T|NUTM1_ENST00000537011.1_Missense_Mutation_p.P748T	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	720						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P720T(1)									CTGTCTCAGCCCAGGAGTTTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											59	57	58					15																	34648451		2201	4298	6499	32435743	SO:0001583	missense	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2158C>A	15.37:g.34648451C>A	ENSP00000329448:p.Pro720Thr		32435743	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513712	0.27123	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.10573	2.87;2.86;2.87	5.21	4.23	0.50019	.	0.523844	0.17737	N	0.163705	T	0.12263	0.0298	L	0.42245	1.32	0.23751	N	0.996947	P;P;P	0.43826	0.723;0.818;0.723	B;P;B	0.44990	0.276;0.466;0.276	T	0.10154	-1.0642	10	0.66056	D	0.02	.	7.8619	0.29514	0.0:0.887:0.0:0.113	.	738;748;720	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	T	748;738;720	ENSP00000444896:P748T;ENSP00000407031:P738T;ENSP00000329448:P720T	ENSP00000329448:P720T	P	+	1	0	C15orf55	32435743	0.977000	0.34250	0.467000	0.27180	0.353000	0.29299	1.960000	0.40422	2.715000	0.92844	0.655000	0.94253	CCA		0.527	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		A	34648451	C	A	34648451	3	1	88	1	0	0	0	0	1	0	0	0	1803	623	22	3	2184	3	C15orf55	15	34648451	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10		34648451	67882941	15	4624											
MPO	4353	hgsc.bcm.edu	37	17	56348030	56348030	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr17:56348030C>A	ENST00000225275.3	-	12	2401	c.2225G>T	c.(2224-2226)aGg>aTg	p.R742M	MPO_ENST00000340482.3_Missense_Mutation_p.R774M	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	742					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R742M(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGAGGCTTCCCTCCAGGAAGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											84	74	77					17																	56348030		2203	4300	6503	53703029	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2225G>T	17.37:g.56348030C>A	ENSP00000225275:p.Arg742Met		53703029	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350633	0.24512	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.74209	-0.82;-0.82	5.46	2.4	0.29515	.	0.150054	0.64402	D	0.000016	T	0.76637	0.4015	M	0.93550	3.43	0.31369	N	0.680468	B	0.22851	0.076	B	0.19666	0.026	T	0.75227	-0.3392	10	0.87932	D	0	-21.5625	5.3532	0.16047	0.1338:0.5748:0.0:0.2914	.	742	P05164	PERM_HUMAN	M	774;742	ENSP00000344419:R774M;ENSP00000225275:R742M	ENSP00000225275:R742M	R	-	2	0	MPO	53703029	0.030000	0.19436	0.862000	0.33874	0.244000	0.25665	0.302000	0.19192	0.354000	0.24105	-0.136000	0.14681	AGG		0.542	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			A	56348030	C	A	56348030	3	1	88	1	0	0	0	0	1	0	0	0	9732	681	24	3	16	3	MPO	17	56348030	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10		56348030	24847180	16	4625											
ZNF582	147948	hgsc.bcm.edu	37	19	56895712	56895712	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr19:56895712C>G	ENST00000301310.4	-	5	1232	c.1074G>C	c.(1072-1074)caG>caC	p.Q358H	ZNF582_ENST00000586929.1_Missense_Mutation_p.Q358H	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q358H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TATGAATTCTCTGATGTCGTA	0.418																																					Ovarian(183;1887 2032 4349 30507 51343)											1	Substitution - Missense(1)	ovary(1)	19											89	90	89					19																	56895712		2203	4300	6503	61587524	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1074G>C	19.37:g.56895712C>G	ENSP00000301310:p.Gln358His		61587524	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364181	0.24684	.	.	ENSG00000018869	ENST00000301310	T	0.07567	3.18	4.49	-3.3	0.05003	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33610	N	0.004722	T	0.05960	0.0155	L	0.50919	1.6	0.23946	N	0.996389	P;P	0.47484	0.553;0.896	B;B	0.41510	0.304;0.359	T	0.22034	-1.0228	10	0.52906	T	0.07	.	1.9017	0.03269	0.1265:0.3489:0.1239:0.4007	.	358;389	Q96NG8;B4DQZ9	ZN582_HUMAN;.	H	358	ENSP00000301310:Q358H	ENSP00000301310:Q358H	Q	-	3	2	ZNF582	61587524	0.000000	0.05858	0.438000	0.26821	0.024000	0.10985	0.696000	0.25541	-0.558000	0.06118	-0.895000	0.02911	CAG		0.418	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		G	56895712	C	G	56895712	3	3	88	1	0	0	0	0	1	0	0	0	18014	912	32	3	483	3	ZNF582	19	56895712	Missense_Mutation	SNP	C	TCGA-13-0801-01A-01W-0370-10		56895712	2233271	17	4626											
STK35	140901	hgsc.bcm.edu	37	20	2097577	2097577	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr20:2097577G>T	ENST00000381482.3	+	3	1429	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	STK35_ENST00000246032.3_Missense_Mutation_p.K253N|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K386N(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GACTAAGCAAGGTCTGTGCTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	20											60	52	55					20																	2097577		2203	4300	6503	2045577	SO:0001583	missense	140901			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1158G>T	20.37:g.2097577G>T	ENSP00000370891:p.Lys386Asn		2045577	B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515084	0.64634	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.94280	-3.39;-3.39	5.5	3.45	0.39498	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	L	0.41906	1.305	0.80722	D	1	P	0.46859	0.885	P	0.55011	0.766	D	0.90373	0.4382	10	0.54805	T	0.06	-20.1776	5.8404	0.18630	0.2862:0.0:0.7138:0.0	.	386	Q8TDR2	STK35_HUMAN	N	386;253	ENSP00000370891:K386N;ENSP00000246032:K253N	ENSP00000246032:K253N	K	+	3	2	STK35	2045577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.467000	0.35321	1.561000	0.49584	0.655000	0.94253	AAG		0.527	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		T	2097577	G	T	2097577	3	4	88	1	0	0	0	0	1	0	0	0	15303	991	35	3	1168	3	STK35	20	2097577	Missense_Mutation	SNP	G	TCGA-13-0801-01A-01W-0370-10		2097577	60927943	18	4627											
NF2	4771	hgsc.bcm.edu	37	22	30057257	30057257	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0801-01A-01W-0370-10	TCGA-13-0801-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c77b2f29-6a90-47f5-8465-325baf05bbbe	1ba23892-0f44-4142-8dc6-8cc7119563ee	g.chr22:30057257G>A	ENST00000338641.4	+	8	1180	c.739G>A	c.(739-741)Gag>Aag	p.E247K	NF2_ENST00000361166.4_Missense_Mutation_p.E247K|NF2_ENST00000353887.4_Missense_Mutation_p.E164K|NF2_ENST00000347330.5_Missense_Mutation_p.E88K|NF2_ENST00000403999.3_Missense_Mutation_p.E247K|NF2_ENST00000397789.3_Missense_Mutation_p.E247K|NF2_ENST00000334961.7_Missense_Mutation_p.E164K|NF2_ENST00000361676.4_Missense_Mutation_p.E205K|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.E247K|NF2_ENST00000361452.4_Missense_Mutation_p.E206K	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	247	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.L232_P257del(1)|p.E247fs*4(1)|p.N226_E270del(1)|p.D245fs*31(1)|p.E247K(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTATGACCCTGAGAACAGACT	0.502			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	8	Unknown(3)|Deletion - In frame(2)|Substitution - Missense(1)|Complex - frameshift(1)|Deletion - Frameshift(1)	soft_tissue(4)|ovary(1)|large_intestine(1)|stomach(1)|central_nervous_system(1)	22											118	113	115					22																	30057257		2203	4300	6503	28387257	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.739G>A	22.37:g.30057257G>A	ENSP00000344666:p.Glu247Lys		28387257	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102197	0.76983	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.81	5.81	0.92471	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.245390	0.47093	D	0.000249	T	0.79857	0.4518	N	0.17723	0.515	0.53688	D	0.999971	B;B;B;B;B;B	0.32526	0.123;0.098;0.18;0.374;0.305;0.145	B;B;B;B;B;B	0.29862	0.062;0.078;0.076;0.108;0.051;0.026	T	0.75827	-0.3180	9	.	.	.	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	206;247;247;205;164;247	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	K	88;247;247;206;247;247;164;164;247;205;247	ENSP00000335160:E88K;ENSP00000344666:E247K;ENSP00000384029:E247K;ENSP00000354897:E206K;ENSP00000384797:E247K;ENSP00000335652:E164K;ENSP00000340626:E164K;ENSP00000380891:E247K;ENSP00000355183:E205K;ENSP00000354529:E247K	.	E	+	1	0	NF2	28387257	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.913000	0.63341	2.747000	0.94245	0.650000	0.86243	GAG		0.502	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		A	30057257	G	A	30057257	3	1	88	1	0	0	0	0	1	0	0	0	10357	1291	45	2	769	2	NF2	22	30057257	Missense_Mutation	SNP	G	TCGA-13-0801-01A-01W-0370-10		30057257	21247309	19	4628											
SGIP1	84251	hgsc.bcm.edu	37	1	67136698	67136698	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0802-01A-01W-0370-10	TCGA-13-0802-10A-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	bb8fa1e9-45e8-4643-8b5d-efc15d82eadf	b9814b65-6442-4aa5-b66b-ba4d04238a09	g.chr1:67136698A>T	ENST00000371037.4	+	10	581	c.504A>T	c.(502-504)ttA>ttT	p.L168F	SGIP1_ENST00000237247.6_Missense_Mutation_p.L172F|SGIP1_ENST00000371035.3_Missense_Mutation_p.L125F|SGIP1_ENST00000371036.3_Missense_Mutation_p.L135F|SGIP1_ENST00000371039.1_Missense_Mutation_p.L136F|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	168					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.L168F(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAAGGAACTTATCCAGTAAGT	0.294																																																1	Substitution - Missense(1)	ovary(1)	1											89	99	96					1																	67136698		2199	4290	6489	66909286	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.504A>T	1.37:g.67136698A>T	ENSP00000360076:p.Leu168Phe		66909286	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073581	0.55646	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02	5.37	5.37	0.77165	.	0.303746	0.31976	N	0.006770	T	0.06416	0.0165	L	0.59436	1.845	0.30758	N	0.744391	D	0.65815	0.995	D	0.72982	0.979	T	0.11591	-1.0581	10	0.42905	T	0.14	-10.7052	9.2321	0.37444	0.9176:0.0:0.0824:0.0	.	168	Q9BQI5	SGIP1_HUMAN	F	172;136;160;125;171;171;135;168	ENSP00000237247:L172F;ENSP00000360078:L136F;ENSP00000410439:L160F;ENSP00000360074:L125F;ENSP00000360075:L135F;ENSP00000360076:L168F	ENSP00000237247:L172F	L	+	3	2	SGIP1	66909286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.106000	0.57804	2.155000	0.67459	0.459000	0.35465	TTA		0.294	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		T	67136698	A	T	67136698	3	4	89	1	0	0	0	0	1	0	0	0	14209	446	16	5	542	5	SGIP1	1	67136698	Missense_Mutation	SNP	A	TCGA-13-0802-01A-01W-0370-10		67136698	182113923	1	4629											
FMOD	2331	hgsc.bcm.edu	37	1	203316470	203316470	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0802-01A-01W-0370-10	TCGA-13-0802-10A-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	bb8fa1e9-45e8-4643-8b5d-efc15d82eadf	b9814b65-6442-4aa5-b66b-ba4d04238a09	g.chr1:203316470G>C	ENST00000354955.4	-	2	1392	c.929C>G	c.(928-930)cCa>cGa	p.P310R	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	310					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.P310R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTGTTGACTGGGGGGATCTT	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											145	135	138					1																	203316470		2203	4300	6503	201583093	SO:0001583	missense	2331			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.929C>G	1.37:g.203316470G>C	ENSP00000347041:p.Pro310Arg		201583093	Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.186453	0.01620	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04551	3.6	5.27	5.27	0.74061	.	0.350754	0.30177	N	0.010228	T	0.04724	0.0128	L	0.35854	1.095	0.23396	N	0.997764	B	0.10296	0.003	B	0.08055	0.003	T	0.41431	-0.9509	10	0.08179	T	0.78	-9.5028	14.076	0.64891	0.0:0.1516:0.8484:0.0	.	310	Q06828	FMOD_HUMAN	R	297;310	ENSP00000347041:P310R	ENSP00000347041:P310R	P	-	2	0	FMOD	201583093	0.920000	0.31207	0.952000	0.39060	0.946000	0.59487	3.188000	0.50958	2.461000	0.83175	0.655000	0.94253	CCA		0.527	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		C	203316470	G	C	203316470	3	2	89	1	0	0	0	0	1	0	0	0	5959	1348	47	3	209	3	FMOD	1	203316470	Missense_Mutation	SNP	G	TCGA-13-0802-01A-01W-0370-10	136179772	203316470	45934151	2	4630											
SLC4A10	57282	hgsc.bcm.edu	37	2	162813737	162813737	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0802-01A-01W-0370-10	TCGA-13-0802-10A-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	bb8fa1e9-45e8-4643-8b5d-efc15d82eadf	b9814b65-6442-4aa5-b66b-ba4d04238a09	g.chr2:162813737C>A	ENST00000446997.1	+	20	2873	c.2780C>A	c.(2779-2781)aCc>aAc	p.T927N	SLC4A10_ENST00000421911.1_Missense_Mutation_p.T927N|SLC4A10_ENST00000415876.2_Missense_Mutation_p.T897N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.T897N|SLC4A10_ENST00000375514.5_Missense_Mutation_p.T908N	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	927					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.T897N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GTCTTTATGACCAGTATTCTG	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											62	61	61					2																	162813737		1871	4116	5987	162521983	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2780C>A	2.37:g.162813737C>A	ENSP00000393066:p.Thr927Asn		162521983	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601870	0.87055	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.42	5.42	0.78866	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91222	0.7234	M	0.92367	3.3	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;D	0.75484	0.986;0.986;0.982	D	0.92725	0.6195	10	0.72032	D	0.01	.	19.5823	0.95473	0.0:1.0:0.0:0.0	.	908;897;927	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	N	908;897;897;896;927;927;926	ENSP00000364664:T908N;ENSP00000395797:T897N;ENSP00000272716:T897N;ENSP00000393066:T927N;ENSP00000404486:T927N	ENSP00000272716:T897N	T	+	2	0	SLC4A10	162521983	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.776000	0.85560	2.695000	0.91970	0.655000	0.94253	ACC		0.353	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		A	162813737	C	A	162813737	3	1	89	1	0	0	0	0	1	0	0	0	14654	507	18	3	2943	3	SLC4A10	2	162813737	Missense_Mutation	SNP	C	TCGA-13-0802-01A-01W-0370-10		162813737	80385636	3	4631											
LRP2	4036	hgsc.bcm.edu	37	2	170136871	170136871	+	Missense_Mutation	SNP	C	C	T	rs148503556		TCGA-13-0802-01A-01W-0370-10	TCGA-13-0802-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	bb8fa1e9-45e8-4643-8b5d-efc15d82eadf	b9814b65-6442-4aa5-b66b-ba4d04238a09	g.chr2:170136871C>T	ENST00000263816.3	-	11	1615	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	LRP2_ENST00000443831.1_Missense_Mutation_p.V444M	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	444					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V444M(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTATTTTGCACGGTGTCTGTC	0.463																																																1	Substitution - Missense(1)	ovary(1)	2						C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	78	78	78		1330	1.7	0	2	dbSNP_134	78	0,8600		0,0,4300	yes	missense	LRP2	NM_004525.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	444/4656	170136871	1,13005	2203	4300	6503	169845117	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1330G>A	2.37:g.170136871C>T	ENSP00000263816:p.Val444Met		169845117	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	3.944	-0.013593	0.07727	2.27E-4	0.0	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.93811	-3.29;-3.29	5.68	1.73	0.24493	Six-bladed beta-propeller, TolB-like (1);	0.256023	0.39274	N	0.001404	T	0.80549	0.4644	N	0.12182	0.205	0.28144	N	0.929684	P;B	0.40638	0.725;0.343	B;B	0.23716	0.048;0.023	T	0.72673	-0.4222	9	.	.	.	.	10.3782	0.44094	0.0:0.7455:0.0:0.2545	.	444;444	E9PC35;P98164	.;LRP2_HUMAN	M	444	ENSP00000263816:V444M;ENSP00000409813:V444M	.	V	-	1	0	LRP2	169845117	0.309000	0.24518	0.001000	0.08648	0.124000	0.20399	1.288000	0.33296	0.024000	0.15214	0.655000	0.94253	GTG		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170136871	C	T	170136871	3	4	89	1	0	0	0	0	1	0	0	0	8956	536	19	1	12913	1	LRP2	2	170136871	Missense_Mutation	SNP	C	TCGA-13-0802-01A-01W-0370-10	7323134	170136871	73062502	4	4632											
PKHD1	5314	hgsc.bcm.edu	37	6	51497506	51497506	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0802-01A-01W-0370-10	TCGA-13-0802-10A-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	bb8fa1e9-45e8-4643-8b5d-efc15d82eadf	b9814b65-6442-4aa5-b66b-ba4d04238a09	g.chr6:51497506G>A	ENST00000371117.3	-	65	11797	c.11522C>T	c.(11521-11523)gCt>gTt	p.A3841V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3841					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A3841V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGGATCGAGCTGTAAAATT	0.418																																																1	Substitution - Missense(1)	ovary(1)	6											76	76	76					6																	51497506		2203	4300	6503	51605465	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11522C>T	6.37:g.51497506G>A	ENSP00000360158:p.Ala3841Val		51605465	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237927	0.22711	.	.	ENSG00000170927	ENST00000371117	D	0.85258	-1.96	5.69	3.58	0.41010	.	0.162496	0.41712	N	0.000834	T	0.60064	0.2240	L	0.43923	1.385	0.80722	D	1	B	0.21071	0.051	B	0.16722	0.016	T	0.56444	-0.7978	10	0.07813	T	0.8	.	7.7796	0.29058	0.2521:0.0:0.7479:0.0	.	3841	P08F94	PKHD1_HUMAN	V	3841	ENSP00000360158:A3841V	ENSP00000360158:A3841V	A	-	2	0	PKHD1	51605465	0.998000	0.40836	1.000000	0.80357	0.321000	0.28281	0.621000	0.24418	1.403000	0.46800	0.650000	0.86243	GCT		0.418	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51497506	G	A	51497506	3	1	89	1	0	0	0	0	1	0	0	0	11971	971	34	2	714	2	PKHD1	6	51497506	Missense_Mutation	SNP	G	TCGA-13-0802-01A-01W-0370-10		51497506	119617561	5	4633											
BBOX1	8424	hgsc.bcm.edu	37	11	27147227	27147227	+	Missense_Mutation	SNP	G	G	A	rs202026071		TCGA-13-0802-01A-01W-0370-10	TCGA-13-0802-10A-01W-0370-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	bb8fa1e9-45e8-4643-8b5d-efc15d82eadf	b9814b65-6442-4aa5-b66b-ba4d04238a09	g.chr11:27147227G>A	ENST00000529202.1	+	7	1202	c.863G>A	c.(862-864)cGc>cAc	p.R288H	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R288H|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.R288H|BBOX1_ENST00000263182.3_Missense_Mutation_p.R288H			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	288					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.R288H(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	caagtggttcgcatcaacttc	0.338																																																1	Substitution - Missense(1)	ovary(1)	11											88	73	78					11																	27147227		2198	4298	6496	27103803	SO:0001583	missense	8424			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.863G>A	11.37:g.27147227G>A	ENSP00000435781:p.Arg288His		27103803	B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428881	0.83667	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	6.03	5.13	0.70059	.	0.102971	0.64402	D	0.000003	D	0.88614	0.6484	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.87848	0.2656	10	0.39692	T	0.17	.	14.0118	0.64503	0.0726:0.0:0.9274:0.0	.	288	O75936	BODG_HUMAN	H	288	ENSP00000435781:R288H;ENSP00000263182:R288H;ENSP00000434918:R288H;ENSP00000433772:R288H	ENSP00000263182:R288H	R	+	2	0	BBOX1	27103803	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.829000	0.69316	1.560000	0.49568	0.655000	0.94253	CGC		0.338	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		A	27147227	G	A	27147227	3	1	89	1	0	0	0	0	1	0	0	0	1334	1087	38	1	885	1	BBOX1	11	27147227	Missense_Mutation	SNP	G	TCGA-13-0802-01A-01W-0370-10		27147227	107859289	6	4634											
ACSBG1	23205	hgsc.bcm.edu	37	15	78473200	78473200	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0802-01A-01W-0370-10	TCGA-13-0802-10A-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	bb8fa1e9-45e8-4643-8b5d-efc15d82eadf	b9814b65-6442-4aa5-b66b-ba4d04238a09	g.chr15:78473200C>T	ENST00000258873.4	-	9	1355	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E142K|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E142K	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	384					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.E384K(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGGATGCGCTCCATGATCTTC	0.632																																																1	Substitution - Missense(1)	ovary(1)	15											93	83	86					15																	78473200		2196	4293	6489	76260255	SO:0001583	missense	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1150G>A	15.37:g.78473200C>T	ENSP00000258873:p.Glu384Lys		76260255	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	36	5.940101	0.97128	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10005	2.92;2.92	5.48	5.48	0.80851	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.72894	2.215	0.80722	D	1	D;P	0.71674	0.998;0.95	D;P	0.72338	0.977;0.807	T	0.01413	-1.1361	10	0.51188	T	0.08	-43.2698	18.3591	0.90368	0.0:1.0:0.0:0.0	.	380;384	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	K	384;142	ENSP00000258873:E384K;ENSP00000439955:E142K	ENSP00000258873:E384K	E	-	1	0	ACSBG1	76260255	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.744000	0.85034	2.576000	0.86940	0.655000	0.94253	GAG		0.632	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		T	78473200	C	T	78473200	3	4	89	1	0	0	0	0	1	0	0	0	173	864	30	2	1048	2	ACSBG1	15	78473200	Missense_Mutation	SNP	C	TCGA-13-0802-01A-01W-0370-10		78473200	24058192	7	4635											
TP53	7157	hgsc.bcm.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0802-01A-01W-0370-10	TCGA-13-0802-10A-01W-0370-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	bb8fa1e9-45e8-4643-8b5d-efc15d82eadf	b9814b65-6442-4aa5-b66b-ba4d04238a09	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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"	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	17	GRCh37	CM070299	TP53	M							51	51	51					17																	7578413		2203	4300	6503	7519138	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.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met		7519138	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	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	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578413	C	T	7578413	3	4	89	1	0	0	0	0	1	0	0	0	16381	478	17	2	781	2	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-13-0802-01A-01W-0370-10		7578413	73616797	8	4636											
PER3	8863	genome.wustl.edu	37	1	7880237	7880237	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr1:7880237C>T	ENST00000361923.2	+	14	1872	c.1697C>T	c.(1696-1698)aCt>aTt	p.T566I	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.T574I	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	566	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.T566I(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAATACAACTTCTTCCTCC	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											116	108	111					1																	7880237		2203	4300	6503	7802824	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1697C>T	1.37:g.7880237C>T	ENSP00000355031:p.Thr566Ile		7802824	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819979	0.50633	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.12465	2.68;2.75	3.2	1.2	0.21068	.	19.756600	0.00166	N	0.000005	T	0.35451	0.0932	M	0.79258	2.445	0.09310	N	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.997	P;P;D;P	0.65233	0.84;0.858;0.933;0.84	T	0.05053	-1.0909	10	0.31617	T	0.26	.	6.2435	0.20803	0.195:0.7025:0.0:0.1025	.	566;574;574;566	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	I	574;566	ENSP00000366755:T574I;ENSP00000355031:T566I	ENSP00000355031:T566I	T	+	2	0	PER3	7802824	0.014000	0.17966	0.000000	0.03702	0.876000	0.50452	1.699000	0.37804	0.155000	0.19261	0.650000	0.86243	ACT		0.393	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		T	7880237	C	T	7880237	3	4	90	1	0	0	0	0	1	0	0	0	11731	565	20	2	1751	2	PER3	1	7880237	Missense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09		7880237	241370384	1	4637											
ADCY10	55811	genome.wustl.edu	37	1	167852758	167852758	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr1:167852758C>T	ENST00000367851.4	-	9	1121	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	ADCY10_ENST00000367848.1_Missense_Mutation_p.A221T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A160T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	313	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.A313T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCCTGGATGGCTGGGCCTATC	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											204	179	187					1																	167852758		2203	4300	6503	166119382	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.937G>A	1.37:g.167852758C>T	ENSP00000356825:p.Ala313Thr		166119382	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975795	0.34848	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	D;D;D	0.81821	-1.54;-1.54;-1.54	5.71	3.77	0.43336	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.402918	0.23918	N	0.043262	T	0.69369	0.3103	L	0.33624	1.015	0.32775	N	0.5032179999999999	P;P;P	0.52692	0.944;0.944;0.955	P;P;P	0.57204	0.651;0.719;0.815	T	0.66264	-0.5967	9	0.19590	T	0.45	-7.3137	11.2367	0.48944	0.3335:0.6665:0.0:0.0	.	160;221;313	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	T	160;313;221	ENSP00000441992:A160T;ENSP00000356825:A313T;ENSP00000356822:A221T	ENSP00000356822:A221T	A	-	1	0	ADCY10	166119382	0.860000	0.29831	0.540000	0.28089	0.003000	0.03518	1.426000	0.34870	0.694000	0.31654	0.655000	0.94253	GCC		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		T	167852758	C	T	167852758	3	4	90	1	0	0	0	0	1	0	0	0	293	797	28	2	3995	2	ADCY10	1	167852758	Missense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09	159972521	167852758	81397863	2	4638											
CEP350	9857	genome.wustl.edu	37	1	180023608	180023608	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr1:180023608G>T	ENST00000367607.3	+	25	5651	c.5233G>T	c.(5233-5235)Ggt>Tgt	p.G1745C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1745					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G1745C(1)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAACAGCGTGGTTTGCTTTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											45	40	42					1																	180023608		2203	4300	6503	178290231	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5233G>T	1.37:g.180023608G>T	ENSP00000356579:p.Gly1745Cys		178290231	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276000	0.95459	.	.	ENSG00000135837	ENST00000367607	T	0.67345	-0.26	5.95	5.95	0.96441	.	0.000000	0.49916	D	0.000128	T	0.73946	0.3652	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70417	-0.4877	9	.	.	.	.	19.9975	0.97389	0.0:0.0:1.0:0.0	.	1745;1745	E7EU22;Q5VT06	.;CE350_HUMAN	C	1745	ENSP00000356579:G1745C	.	G	+	1	0	CEP350	178290231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	GGT		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		T	180023608	G	T	180023608	3	4	90	1	0	0	0	0	1	0	0	0	3254	1348	47	3	5327	3	CEP350	1	180023608	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09	12170850	180023608	69227013	3	4639											
C2orf16	84226	genome.wustl.edu	37	2	27801203	27801203	+	Silent	SNP	A	A	G			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr2:27801203A>G	ENST00000408964.2	+	1	1815	c.1764A>G	c.(1762-1764)gtA>gtG	p.V588V		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	588						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.V588V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTCAAATTGTAAAAACTATGT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	2											53	49	50					2																	27801203		1850	4084	5934	27654707	SO:0001819	synonymous_variant	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1764A>G	2.37:g.27801203A>G			27654707	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																				0.413	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		G	27801203	A	G	27801203	2	3	90	1	0	0	0	0	0	0	0	1	2157	349	13	4		4	C2orf16	2	27801203	Silent	SNP	A	TCGA-13-0804-01A-01W-0372-09		27801203	215398170	4	4640											
DHX57	90957	genome.wustl.edu	37	2	39085968	39085968	+	Silent	SNP	T	T	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr2:39085968T>A	ENST00000295373.6	-	6	1548	c.1422A>T	c.(1420-1422)gcA>gcT	p.A474A	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	474				A -> T (in Ref. 1; BAB71479). {ECO:0000305}.			ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A474A(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CAGATTCTGATGCTTTTTCAA	0.368																																					Melanoma(191;1090 2095 4375 23729 47341)											1	Substitution - coding silent(1)	ovary(1)	2											70	68	69					2																	39085968		2203	4300	6503	38939472	SO:0001819	synonymous_variant	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1422A>T	2.37:g.39085968T>A			38939472	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	CCDS1800.1																																																																																				0.368	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		A	39085968	T	A	39085968	2	1	90	1	0	0	0	0	0	0	0	1	4513	1451	51	5		5	DHX57	2	39085968	Silent	SNP	T	TCGA-13-0804-01A-01W-0372-09	11284765	39085968	204113405	5	4641											
CPS1	1373	genome.wustl.edu	37	2	211441115	211441115	+	Silent	SNP	C	C	G			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr2:211441115C>G	ENST00000233072.5	+	3	478	c.282C>G	c.(280-282)ctC>ctG	p.L94L	CPS1_ENST00000430249.2_Silent_p.L100L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	94	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L94L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GACAGATTCTCACAATGGCCA	0.413																																																1	Substitution - coding silent(1)	ovary(1)	2											186	170	175					2																	211441115		2203	4300	6503	211149360	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.282C>G	2.37:g.211441115C>G			211149360	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																				0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			G	211441115	C	G	211441115	2	3	90	1	0	0	0	0	0	0	0	1	3823	813	29	3		3	CPS1	2	211441115	Silent	SNP	C	TCGA-13-0804-01A-01W-0372-09	172355147	211441115	31758258	6	4642											
NGEF	25791	genome.wustl.edu	37	2	233757633	233757633	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr2:233757633G>T	ENST00000264051.3	-	7	1395	c.1117C>A	c.(1117-1119)Cag>Aag	p.Q373K	NGEF_ENST00000539537.1_Missense_Mutation_p.Q96K|NGEF_ENST00000373552.4_Missense_Mutation_p.Q281K	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	373	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q373K(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTCCGCTCCTGGTAGGTCTGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											172	150	158					2																	233757633		2203	4300	6503	233465877	SO:0001583	missense	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1117C>A	2.37:g.233757633G>T	ENSP00000264051:p.Gln373Lys		233465877	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.905244|4.905244	0.92035|0.92035	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000420650|ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	.|T;T;T;T;T	.|0.62941	.|-0.01;-0.01;-0.01;-0.01;-0.01	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83303|0.83303	0.5225|0.5225	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.959	.|D;P	.|0.73708	.|0.981;0.696	D|D	0.86645|0.86645	0.1894|0.1894	5|10	.|0.66056	.|D	.|0.02	-40.9763|-40.9763	18.9148|18.9148	0.92501|0.92501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;373	.|E9PC42;Q8N5V2	.|.;NGEF_HUMAN	Q|K	165|373;281;263;96;96;96	.|ENSP00000264051:Q373K;ENSP00000362653:Q281K;ENSP00000439035:Q96K;ENSP00000401063:Q96K;ENSP00000412614:Q96K	.|ENSP00000264051:Q373K	P|Q	-|-	2|1	0|0	NGEF|NGEF	233465877|233465877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	9.441000|9.441000	0.97557|0.97557	2.470000|2.470000	0.83445|0.83445	0.561000|0.561000	0.74099|0.74099	CCA|CAG		0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		T	233757633	G	T	233757633	3	4	90	1	0	0	0	0	1	0	0	0	10394	1357	47	3	1051	3	NGEF	2	233757633	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09	22316518	233757633	9441740	7	4643											
ATG3	64422	genome.wustl.edu	37	3	112253138	112253138	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr3:112253138C>A	ENST00000283290.5	-	11	1275	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	ATG3_ENST00000495756.1_5'Flank|ATG3_ENST00000402314.2_Missense_Mutation_p.G281W	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	281					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)	p.G281W(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						AGTTCTCCCCCTCCTTCTGCA	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											132	115	121					3																	112253138		2203	4300	6503	113735828	SO:0001583	missense	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.841G>T	3.37:g.112253138C>A	ENSP00000283290:p.Gly281Trp		113735828	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766926	0.90020	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.85847	0.5792	M	0.92317	3.295	0.80722	D	1	P;P	0.52842	0.945;0.956	P;P	0.61800	0.685;0.894	D	0.88291	0.2943	9	0.87932	D	0	-33.9306	20.1823	0.98208	0.0:1.0:0.0:0.0	.	281;281	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	W	281	.	ENSP00000283290:G281W	G	-	1	0	ATG3	113735828	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.771000	0.95319	0.650000	0.86243	GGG		0.353	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		A	112253138	C	A	112253138	3	1	90	1	0	0	0	0	1	0	0	0	1095	681	24	3	111	3	ATG3	3	112253138	Missense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09		112253138	85769292	8	4644											
CASR	846	genome.wustl.edu	37	3	121994706	121994706	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr3:121994706G>C	ENST00000490131.1	+	5	1797	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D	CASR_ENST00000498619.1_Missense_Mutation_p.E475D|CASR_ENST00000296154.5_Missense_Mutation_p.E475D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	475					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.E475D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATATGGGGGAGCAGGTGACCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	3											119	108	112					3																	121994706		2203	4300	6503	123477396	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1425G>C	3.37:g.121994706G>C	ENSP00000418685:p.Glu475Asp		123477396	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497990	0.44455	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.82711	-1.64;-1.64;-1.64	5.69	3.79	0.43588	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	N	0.20530	0.585	0.53005	D	0.999961	D;D	0.71674	0.997;0.998	D;D	0.79108	0.992;0.949	T	0.75536	-0.3283	10	0.15952	T	0.53	.	10.7338	0.46113	0.1636:0.0:0.8364:0.0	.	475;475	E7ENE0;P41180	.;CASR_HUMAN	D	475	ENSP00000418685:E475D;ENSP00000420194:E475D;ENSP00000296154:E475D	ENSP00000296154:E475D	E	+	3	2	CASR	123477396	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.800000	0.38833	0.764000	0.33197	0.655000	0.94253	GAG		0.498	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		C	121994706	G	C	121994706	3	2	90	1	0	0	0	0	1	0	0	0	2682	962	34	3	1439	3	CASR	3	121994706	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09	9741568	121994706	76027724	9	4645											
COPG	22820	genome.wustl.edu	37	3	128971125	128971125	+	Splice_Site	SNP	C	C	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr3:128971125C>T	ENST00000314797.6	+	3	196	c.92C>T	c.(91-93)gCc>gTc	p.A31V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	31					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.A31V(1)									TCTTCTTAGGCCCGTGTATTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											98	98	98					3																	128971125		2203	4300	6503	130453815	SO:0001630	splice_region_variant	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.91-1C>T	3.37:g.128971125C>T			130453815	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113559	0.94339	.	.	ENSG00000181789	ENST00000314797	T	0.12465	2.68	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.078251	0.52532	N	0.000061	T	0.23846	0.0577	M	0.86028	2.79	0.58432	D	0.999997	P	0.34892	0.474	B	0.33254	0.16	T	0.09465	-1.0673	10	0.72032	D	0.01	-6.0559	15.8781	0.79182	0.0:1.0:0.0:0.0	.	31	Q9Y678	COPG_HUMAN	V	31	ENSP00000325002:A31V	ENSP00000325002:A31V	A	+	2	0	COPG	130453815	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	7.517000	0.81783	2.351000	0.79841	0.460000	0.39030	GCC		0.423	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	Missense_Mutation	T	128971125	C	T	128971125	5	4	90	1	0	0	0	0	0	0	1	0	3731	753	26	2	102	2	COPG	3	128971125	Splice_Site	SNP	C	TCGA-13-0804-01A-01W-0372-09	6976419	128971125	69051305	10	4646											
CYP3A4	1576	genome.wustl.edu	37	7	99361631	99361631	+	Silent	SNP	G	G	A	rs187260898		TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr7:99361631G>A	ENST00000336411.2	-	10	1056	c.873C>T	c.(871-873)tcC>tcT	p.S291S	CYP3A4_ENST00000354593.2_Silent_p.S141S|RP11-757A13.1_ENST00000608397.1_RNA	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	291					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.S291S(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GCTCCAGATCGGACAGAGCTG	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		20916	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	7											81	79	80					7																	99361631		2203	4300	6503	99199567	SO:0001819	synonymous_variant	1576			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"Cytochrome P450s"	2637	protein-coding gene	gene with protein product		124010	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.873C>T	7.37:g.99361631G>A			99199567	P05184|Q16757|Q9UK50	Silent	SNP	ENST00000336411.2	37	CCDS5674.1																																																																																				0.428	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			A	99361631	G	A	99361631	2	1	90	1	0	0	0	0	0	0	0	1	4178	1103	39	1		1	CYP3A4	7	99361631	Silent	SNP	G	TCGA-13-0804-01A-01W-0372-09		99361631	59777032	11	4647											
PTPRZ1	5803	genome.wustl.edu	37	7	121671540	121671540	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr7:121671540C>T	ENST00000393386.2	+	15	5504	c.5093C>T	c.(5092-5094)gCa>gTa	p.A1698V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.A838V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1698					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1698V(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATGTCGGAGCAATTCCAATA	0.308																																																1	Substitution - Missense(1)	ovary(1)	7											93	89	91					7																	121671540		2203	4297	6500	121458776	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5093C>T	7.37:g.121671540C>T	ENSP00000377047:p.Ala1698Val		121458776	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362852	0.95877	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.14022	2.54;2.54	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.38374	0.1038	M	0.64404	1.975	0.80722	D	1	P;B;D	0.89917	0.787;0.427;1.0	B;B;D	0.74023	0.298;0.418;0.982	T	0.02546	-1.1143	10	0.87932	D	0	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	837;838;1698	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1698;838	ENSP00000377047:A1698V;ENSP00000410000:A838V	ENSP00000377047:A1698V	A	+	2	0	PTPRZ1	121458776	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.372000	0.79612	2.809000	0.96659	0.655000	0.94253	GCA		0.308	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121671540	C	T	121671540	3	4	90	1	0	0	0	0	1	0	0	0	12817	710	25	2	5151	2	PTPRZ1	7	121671540	Missense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09	22309909	121671540	37467123	12	4648											
C7orf29	113763	genome.wustl.edu	37	7	150027803	150027803	+	Missense_Mutation	SNP	G	G	C	rs374205555		TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr7:150027803G>C	ENST00000343855.4	+	1	866	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	104								p.V104L(1)									GCAAGTCCTCGTGTACAAGGT	0.572																																																1	Substitution - Missense(1)	ovary(1)	7											73	74	74					7																	150027803		2203	4300	6503	149658736	SO:0001583	missense	113763			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"chromosome 7 open reading frame 29"	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.310G>C	7.37:g.150027803G>C	ENSP00000343242:p.Val104Leu		149658736		Missense_Mutation	SNP	ENST00000343855.4	37	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043722	0.36085	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.75	1.92	0.25849	.	0.387601	0.16547	U	0.209663	T	0.27454	0.0674	L	0.27053	0.805	0.20703	N	0.999864	D	0.57571	0.98	P	0.46253	0.509	T	0.08310	-1.0728	9	0.48119	T	0.1	.	8.4154	0.32668	0.2054:0.0:0.7946:0.0	.	104	Q96FA7	CG029_HUMAN	L	104	.	ENSP00000343242:V104L	V	+	1	0	C7orf29	149658736	0.813000	0.29090	0.436000	0.26797	0.612000	0.37316	0.910000	0.28571	0.366000	0.24427	-0.221000	0.12465	GTG		0.572	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1	NM_138434		C	150027803	G	C	150027803	3	2	90	1	0	0	0	0	1	0	0	0	2385	1145	40	3	312	3	C7orf29	7	150027803	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09	28356263	150027803	9110860	13	4649											
FAM83A	84985	genome.wustl.edu	37	8	124219413	124219413	+	Missense_Mutation	SNP	G	G	A	rs373188549		TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr8:124219413G>A	ENST00000518448.1	+	5	2804	c.790G>A	c.(790-792)Gga>Aga	p.G264R	FAM83A_ENST00000546351.1_Missense_Mutation_p.G208R|FAM83A_ENST00000522648.1_Missense_Mutation_p.G208R|FAM83A_ENST00000318462.6_Missense_Mutation_p.G264R|FAM83A_ENST00000276699.6_Missense_Mutation_p.G264R|FAM83A_ENST00000536633.1_Missense_Mutation_p.G264R			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	264								p.G264R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ctGGCTCTGCGGACACGTGCA	0.617																																																1	Substitution - Missense(1)	ovary(1)	8						G	ARG/GLY,ARG/GLY	1,4405		0,1,2202	26	22	23		790,790	4.7	1	8		23	0,8600		0,0,4300	no	missense,missense	FAM83A	NM_032899.4,NM_207006.1	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	264/435,264/368	124219413	1,13005	2203	4300	6503	124288594	SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.790G>A	8.37:g.124219413G>A	ENSP00000428876:p.Gly264Arg		124288594	Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630665	0.87660	2.27E-4	0.0	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.13657	2.59;2.57;2.59;2.59;2.57;2.59	4.69	4.69	0.59074	.	0.069462	0.64402	D	0.000012	T	0.38957	0.1060	M	0.77103	2.36	0.58432	D	0.999995	P;D;D	0.89917	0.945;0.999;1.0	P;P;D	0.77557	0.45;0.847;0.99	T	0.16305	-1.0407	10	0.32370	T	0.25	-10.9734	17.9648	0.89097	0.0:0.0:1.0:0.0	.	208;264;264	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	R	264;208;264;264;208;264	ENSP00000428876:G264R;ENSP00000440565:G208R;ENSP00000445218:G264R;ENSP00000323034:G264R;ENSP00000427979:G208R;ENSP00000276699:G264R	ENSP00000276699:G264R	G	+	1	0	FAM83A	124288594	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	6.341000	0.72977	2.326000	0.78906	0.430000	0.28490	GGA		0.617	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		A	124219413	G	A	124219413	3	1	90	1	0	0	0	0	1	0	0	0	5633	1117	39	1	804	1	FAM83A	8	124219413	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09		124219413	22144609	14	4650											
PTGS1	5742	genome.wustl.edu	37	9	125140732	125140732	+	Missense_Mutation	SNP	C	C	T	rs181947887	byFrequency	TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr9:125140732C>T	ENST00000362012.2	+	4	237	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	PTGS1_ENST00000540753.1_Missense_Mutation_p.R53W|PTGS1_ENST00000223423.4_Missense_Mutation_p.R78W|PTGS1_ENST00000373698.5_5'UTR	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	78					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.R78W(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GACCTGGCTCCGGAATTCACT	0.597													C|||	8	0.00159744	0	0.0115	5008	,	,		18763	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9	GRCh37	CM071951	PTGS1	M	rs181947887	C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	109	116	113		232,232	5.7	1	9		113	0,8600		0,0,4300	yes	missense,missense	PTGS1	NM_000962.2,NM_080591.1	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	78/600,78/563	125140732	2,13004	2203	4300	6503	124180553	SO:0001583	missense	5742			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.232C>T	9.37:g.125140732C>T	ENSP00000354612:p.Arg78Trp		124180553	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	C	21.7	4.189947	0.78789	4.54E-4	0.0	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000426608	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.68	5.68	0.88126	.	0.106561	0.64402	D	0.000003	T	0.68146	0.2969	L	0.49778	1.585	0.80722	D	1	D;D;D	0.69078	0.996;0.986;0.997	P;P;P	0.55391	0.775;0.477;0.764	T	0.73924	-0.3829	10	0.66056	D	0.02	-31.7381	18.7862	0.91955	0.0:1.0:0.0:0.0	.	53;78;78	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	W	53;78;78;36	ENSP00000437709:R53W;ENSP00000354612:R78W;ENSP00000223423:R78W;ENSP00000411606:R36W	ENSP00000223423:R78W	R	+	1	2	PTGS1	124180553	0.001000	0.12720	1.000000	0.80357	0.891000	0.51852	1.307000	0.33516	2.677000	0.91161	0.563000	0.77884	CGG		0.597	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			T	125140732	C	T	125140732	3	4	90	1	0	0	0	0	1	0	0	0	12758	643	23	1	246	1	PTGS1	9	125140732	Missense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09		125140732	16072699	15	4651											
MSMB	4477	genome.wustl.edu	37	10	51562381	51562381	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr10:51562381T>A	ENST00000358559.2	+	4	413	c.326T>A	c.(325-327)gTc>gAc	p.V109D	NCOA4_ENST00000452682.1_5'Flank|NCOA4_ENST00000374087.4_5'Flank|MSMB_ENST00000298239.6_Missense_Mutation_p.S74T|NCOA4_ENST00000414907.2_5'Flank|NCOA4_ENST00000430396.2_5'Flank|NCOA4_ENST00000438493.1_5'Flank	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	109						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.V109D(1)		lung(4)|ovary(2)|prostate(1)	7						ACCTGTTCTGTCAGTGAATGG	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											172	146	155					10																	51562381		2203	4300	6503	51232387	SO:0001583	missense	4477			BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.326T>A	10.37:g.51562381T>A	ENSP00000351363:p.Val109Asp		51232387	B1API6|P11999|Q13125|Q6IAY9|Q9UC59	Missense_Mutation	SNP	ENST00000358559.2	37	CCDS7235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.69|16.69	3.192842|3.192842	0.58017|0.58017	.|.	.|.	ENSG00000138294|ENSG00000138294	ENST00000298239|ENST00000358559	T|T	0.24538|0.13657	1.85|2.57	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.451809	.|0.20798	.|N	.|0.085481	T|T	0.31389|0.31389	0.0795|0.0795	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|D	0.76494|0.76494	0.999|0.999	D|D	0.69479|0.69479	0.964|0.964	T|T	0.03673|0.03673	-1.1014|-1.1014	8|9	0.87932|0.87932	D|D	0|0	-14.1726|-14.1726	9.9184|9.9184	0.41448|0.41448	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	74|109	P08118-2|P08118	.|MSMB_HUMAN	T|D	74|109	ENSP00000298239:S74T|ENSP00000351363:V109D	ENSP00000298239:S74T|ENSP00000351363:V109D	S|V	+|+	1|2	0|0	MSMB|MSMB	51232387|51232387	0.266000|0.266000	0.24112|0.24112	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	3.032000|3.032000	0.49736|0.49736	2.126000|2.126000	0.65437|0.65437	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.468	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048034.1	NM_002443, NM_138634		A	51562381	T	A	51562381	3	1	90	1	0	0	0	0	1	0	0	0	9883	1667	58	5	340	5	MSMB	10	51562381	Missense_Mutation	SNP	T	TCGA-13-0804-01A-01W-0372-09		51562381	83972366	16	4652	13	2									
MSMB	4477	genome.wustl.edu	37	10	51562388	51562388	+	Silent	SNP	A	A	G			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr10:51562388A>G	ENST00000358559.2	+	4	420	c.333A>G	c.(331-333)gaA>gaG	p.E111E	NCOA4_ENST00000452682.1_5'Flank|NCOA4_ENST00000374087.4_5'Flank|MSMB_ENST00000298239.6_Missense_Mutation_p.N76S|NCOA4_ENST00000414907.2_5'Flank|NCOA4_ENST00000430396.2_5'Flank|NCOA4_ENST00000438493.1_5'Flank	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	111						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E111E(1)		lung(4)|ovary(2)|prostate(1)	7						CTGTCAGTGAATGGATAATCT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	10											163	138	146					10																	51562388		2203	4300	6503	51232394	SO:0001819	synonymous_variant	4477			BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.333A>G	10.37:g.51562388A>G			51232394	B1API6|P11999|Q13125|Q6IAY9|Q9UC59	Missense_Mutation	SNP	ENST00000358559.2	37	CCDS7235.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598222	0.46318	.	.	ENSG00000138294	ENST00000298239	T	0.21031	2.03	4.33	-8.67	0.00863	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.36359	-0.9751	8	0.87932	D	0	6.1598	2.059	0.03587	0.1609:0.3137:0.3317:0.1937	.	76	P08118-2	.	S	76	ENSP00000298239:N76S	ENSP00000298239:N76S	N	+	2	0	MSMB	51232394	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.829000	0.00356	-2.003000	0.00962	0.528000	0.53228	AAT		0.458	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048034.1	NM_002443, NM_138634		G	51562388	A	G	51562388	2	3	90	1	0	0	0	0	0	0	0	1	9883	101	4	4		4	MSMB	10	51562388	Silent	SNP	A	TCGA-13-0804-01A-01W-0372-09	7	51562388	83972359	17	4653	13	2									
TET1	80312	genome.wustl.edu	37	10	70406255	70406255	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr10:70406255G>T	ENST00000373644.4	+	4	3978	c.3769G>T	c.(3769-3771)Gtt>Ttt	p.V1257F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1257					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.V1257F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGGTGAAGGTTGAACCATT	0.403																																																1	Substitution - Missense(1)	ovary(1)	10											77	74	75					10																	70406255		2203	4300	6503	70076261	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3769G>T	10.37:g.70406255G>T	ENSP00000362748:p.Val1257Phe		70076261	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761666	0.49468	.	.	ENSG00000138336	ENST00000373644	T	0.08008	3.14	5.25	2.21	0.28008	.	1.597070	0.04183	N	0.326805	T	0.07773	0.0195	N	0.24115	0.695	0.29156	N	0.878088	B	0.15930	0.015	B	0.12837	0.008	T	0.36261	-0.9755	10	0.54805	T	0.06	.	7.3934	0.26923	0.0771:0.0:0.6249:0.2981	.	1257	Q8NFU7	TET1_HUMAN	F	1257	ENSP00000362748:V1257F	ENSP00000362748:V1257F	V	+	1	0	TET1	70076261	0.997000	0.39634	0.986000	0.45419	0.777000	0.43975	2.169000	0.42434	0.159000	0.19401	0.563000	0.77884	GTT		0.403	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		T	70406255	G	T	70406255	3	4	90	1	0	0	0	0	1	0	0	0	15769	1261	44	3	3779	3	TET1	10	70406255	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09	18843867	70406255	65128492	18	4654											
XPNPEP1	7511	genome.wustl.edu	37	10	111628446	111628446	+	Silent	SNP	G	G	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr10:111628446G>A	ENST00000502935.1	-	20	1917	c.1798C>T	c.(1798-1800)Ctg>Ttg	p.L600L	XPNPEP1_ENST00000322238.8_Silent_p.L576L|XPNPEP1_ENST00000369683.1_Silent_p.L486L|XPNPEP1_ENST00000369680.4_Silent_p.L557L|U4_ENST00000607255.1_RNA					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.L557L(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCAAAGGTCAGGCTTCCCCGG	0.433																																																1	Substitution - coding silent(1)	ovary(1)	10											190	196	194					10																	111628446		2203	4300	6503	111618436	SO:0001819	synonymous_variant	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1798C>T	10.37:g.111628446G>A			111618436		Silent	SNP	ENST00000502935.1	37	CCDS7560.2																																																																																				0.433	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			A	111628446	G	A	111628446	2	1	90	1	0	0	0	0	0	0	0	1	17442	991	35	2		2	XPNPEP1	10	111628446	Silent	SNP	G	TCGA-13-0804-01A-01W-0372-09	41222191	111628446	23906301	19	4655											
MCAM	4162	genome.wustl.edu	37	11	119183335	119183335	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr11:119183335C>T	ENST00000264036.4	-	7	777	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	MCAM_ENST00000392814.1_Missense_Mutation_p.E204K|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	255	Ig-like C2-type 1.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E255K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCTCCACTTCCAGCCACACT	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											93	95	95					11																	119183335		2199	4295	6494	118688545	SO:0001583	missense	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.763G>A	11.37:g.119183335C>T	ENSP00000264036:p.Glu255Lys		118688545	O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084183	0.55861	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.13307	2.6;2.6	4.87	4.87	0.63330	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11495	0.0280	L	0.45051	1.395	0.37426	D	0.913828	B	0.28998	0.23	B	0.27715	0.082	T	0.10086	-1.0645	9	0.12103	T	0.63	-18.7266	11.7806	0.52013	0.0:0.808:0.192:0.0	.	255	P43121	MUC18_HUMAN	K	255;204	ENSP00000264036:E255K;ENSP00000376561:E204K	ENSP00000264036:E255K	E	-	1	0	MCAM	118688545	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	2.229000	0.42990	2.681000	0.91329	0.561000	0.74099	GAA		0.577	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			T	119183335	C	T	119183335	3	4	90	1	0	0	0	0	1	0	0	0	9368	864	30	2	1217	2	MCAM	11	119183335	Missense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09		119183335	15823181	20	4656											
KLRC3	3823	genome.wustl.edu	37	12	10572978	10572978	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr12:10572978T>C	ENST00000396439.2	-	1	216	c.172A>G	c.(172-174)Ata>Gta	p.I58V	NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381903.2_Missense_Mutation_p.I58V|KLRC3_ENST00000381904.2_Missense_Mutation_p.I58V	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	58					cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.I58V(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTCATATATTTTATCAATC	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											130	134	133					12																	10572978		2203	4300	6503	10464245	SO:0001583	missense	3823			L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.172A>G	12.37:g.10572978T>C	ENSP00000379716:p.Ile58Val		10464245	Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	t	4.673	0.125110	0.08931	.	.	ENSG00000205810	ENST00000396439;ENST00000381904;ENST00000381903	T;T;T	0.04454	3.62;3.62;3.62	2.55	-1.98	0.07480	.	2.562700	0.01167	N	0.006792	T	0.05640	0.0148	L	0.44542	1.39	0.09310	N	1	B;B	0.18166	0.026;0.015	B;B	0.28385	0.089;0.045	T	0.40175	-0.9577	10	0.22706	T	0.39	.	3.9839	0.09507	0.2048:0.0:0.4548:0.3404	.	58;58	Q07444-2;Q07444	.;NKG2E_HUMAN	V	58	ENSP00000379716:I58V;ENSP00000371329:I58V;ENSP00000371328:I58V	ENSP00000371328:I58V	I	-	1	0	KLRC3	10464245	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.982000	0.03762	-0.397000	0.07691	-0.446000	0.05623	ATA		0.338	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		C	10572978	T	C	10572978	3	2	90	1	0	0	0	0	1	0	0	0	8417	1493	52	4	674	4	KLRC3	12	10572978	Missense_Mutation	SNP	T	TCGA-13-0804-01A-01W-0372-09		10572978	123278917	21	4657											
SLCO1A2	6579	genome.wustl.edu	37	12	21453469	21453469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr12:21453469C>T	ENST00000307378.6	-	9	1443	c.723G>A	c.(721-723)tgG>tgA	p.W241*	SLCO1A2_ENST00000390670.3_Nonsense_Mutation_p.W239*|SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.W109*|SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.W241*|SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.W109*	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	241					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.W241*(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATGCACCGACCCAACGAGTGT	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	12											76	65	68					12																	21453469		2203	4300	6503	21344736	SO:0001587	stop_gained	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.723G>A	12.37:g.21453469C>T	ENSP00000305974:p.Trp241*		21344736	Q9UGP7|Q9UL38	Nonsense_Mutation	SNP	ENST00000307378.6	37	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	39	7.896763	0.98548	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5156	0.95162	0.0:1.0:0.0:0.0	.	.	.	.	X	241;241;109;109;239	.	ENSP00000305974:W241X	W	-	3	0	SLCO1A2	21344736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.116000	0.77119	2.605000	0.88082	0.563000	0.77884	TGG		0.398	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		T	21453469	C	T	21453469	4	4	90	1	0	0	0	0	0	1	0	0	14725	624	22	2	1321	2	SLCO1A2	12	21453469	Nonsense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09	10880491	21453469	112398426	22	4658											
CCNT1	904	genome.wustl.edu	37	12	49087916	49087916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr12:49087916delC	ENST00000261900.3	-	9	1303	c.1081delG	c.(1081-1083)gatfs	p.D361fs		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	361					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.D361fs*29(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AAGGAATGATCAACTCCTGTA	0.458																																																1	Deletion - Frameshift(1)	ovary(1)	12											173	165	168					12																	49087916		2203	4300	6503	47374183	SO:0001589	frameshift_variant	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1081delG	12.37:g.49087916delC	ENSP00000261900:p.Asp361fs		47374183	A9XU13|E7EX76|O60581	Frame_Shift_Del	DEL	ENST00000261900.3	37	CCDS8766.1																																																																																				0.458	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		-	49087916	C	-	49087916	7	5	90	1	0	1	0	1	0	0	0	0	2934	826	29	0	1103	0	CCNT1	12	49087916	Frame_Shift_Del	DEL	C	TCGA-13-0804-01A-01W-0372-09	27634447	49087916	84763979	23	4659											
KRT86	3892	genome.wustl.edu	37	12	52699059	52699059	+	Silent	SNP	C	C	A	rs112956699	byFrequency	TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr12:52699059C>A	ENST00000423955.2	+	7	949	c.771C>A	c.(769-771)acC>acA	p.T257T	KRT86_ENST00000544024.1_Silent_p.T257T|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Silent_p.T257T			O43790	KRT86_HUMAN	keratin 86	257	Linker 12.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T257T(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCAGACACCTCCGTGGTTG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	12											146	126	133					12																	52699059		2203	4300	6503	50985326	SO:0001819	synonymous_variant	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.771C>A	12.37:g.52699059C>A			50985326	P78387	Silent	SNP	ENST00000423955.2	37	CCDS41785.1																																																																																				0.567	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		A	52699059	C	A	52699059	2	1	90	1	0	0	0	0	0	0	0	1	8500	668	24	3		3	KRT86	12	52699059	Silent	SNP	C	TCGA-13-0804-01A-01W-0372-09	3611143	52699059	81152836	24	4660											
NALCN	259232	genome.wustl.edu	37	13	101714442	101714442	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr13:101714442G>A	ENST00000251127.6	-	41	4714	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1545					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R1545W(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGCTCTTCCGGATGTCCACG	0.537																																																1	Substitution - Missense(1)	ovary(1)	13											84	64	71					13																	101714442		2203	4300	6503	100512443	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4633C>T	13.37:g.101714442G>A	ENSP00000251127:p.Arg1545Trp		100512443	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058340	0.76074	.	.	ENSG00000102452	ENST00000251127	D	0.98012	-4.66	5.82	2.79	0.32731	.	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98276	1.0506	10	0.87932	D	0	.	13.6106	0.62076	0.0:0.0:0.4732:0.5268	.	1545	Q8IZF0	NALCN_HUMAN	W	1545	ENSP00000251127:R1545W	ENSP00000251127:R1545W	R	-	1	2	NALCN	100512443	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.261000	0.43276	1.407000	0.46875	0.650000	0.86243	CGG		0.537	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101714442	G	A	101714442	3	1	90	1	0	0	0	0	1	0	0	0	10148	1115	39	1	599	1	NALCN	13	101714442	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09		101714442	13455436	25	4661											
OR11H6	122748	genome.wustl.edu	37	14	20692395	20692395	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr14:20692395T>A	ENST00000315519.2	+	1	605	c.527T>A	c.(526-528)gTc>gAc	p.V176D		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V176D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGCTATCCAGTCCCTATTGTT	0.502																																																1	Substitution - Missense(1)	ovary(1)	14											95	93	94					14																	20692395		2203	4300	6503	19762235	SO:0001583	missense	122748				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.527T>A	14.37:g.20692395T>A	ENSP00000319071:p.Val176Asp		19762235	Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654674	0.47467	.	.	ENSG00000176219	ENST00000315519	T	0.39056	1.1	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.149103	0.30840	N	0.008779	T	0.70911	0.3278	M	0.93062	3.375	0.51482	D	0.999925	B	0.33583	0.418	P	0.55667	0.781	T	0.75622	-0.3254	10	0.72032	D	0.01	.	12.6331	0.56669	0.0:0.0:0.0:1.0	.	176	Q8NGC7	O11H6_HUMAN	D	176	ENSP00000319071:V176D	ENSP00000319071:V176D	V	+	2	0	OR11H6	19762235	0.001000	0.12720	0.996000	0.52242	0.226000	0.24999	1.150000	0.31639	2.077000	0.62373	0.363000	0.22086	GTC		0.502	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			A	20692395	T	A	20692395	3	1	90	1	0	0	0	0	1	0	0	0	10929	1667	58	5	529	5	OR11H6	14	20692395	Missense_Mutation	SNP	T	TCGA-13-0804-01A-01W-0372-09		20692395	86657145	26	4662											
RTN1	6252	genome.wustl.edu	37	14	60193673	60193673	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr14:60193673C>T	ENST00000267484.5	-	3	2064	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	577					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.A577T(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGGCGGGGCGCCAGGACCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	14											20	22	21					14																	60193673		2203	4300	6503	59263426	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1729G>A	14.37:g.60193673C>T	ENSP00000267484:p.Ala577Thr		59263426	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015652	0.19355	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.24538	1.85	4.36	-1.58	0.08479	.	4.436180	0.00780	N	0.001261	T	0.15652	0.0377	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.07443	-1.0772	10	0.15066	T	0.55	.	1.8458	0.03159	0.1876:0.4109:0.1965:0.205	.	577	Q16799	RTN1_HUMAN	T	157;577;503	ENSP00000267484:A577T	ENSP00000267484:A577T	A	-	1	0	RTN1	59263426	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.503000	0.06383	-0.501000	0.06605	-1.255000	0.01485	GCC		0.582	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			T	60193673	C	T	60193673	3	4	90	1	0	0	0	0	1	0	0	0	13728	768	27	1	694	1	RTN1	14	60193673	Missense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09	39501278	60193673	47155867	27	4663											
TRIP11	9321	genome.wustl.edu	37	14	92441013	92441014	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III|4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr14:92441013_92441014GG>CC	ENST00000267622.4	-	19	5904_5905	c.5531_5532CC>GG	c.(5530-5532)cCC>cGG	p.P1844R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1844					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P1844R(1)|p.P1844P(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAGGTGTGTTGGGAACACTTTT	0.371			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(2)	14																																								91510766|91510767	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5531_5532delinsCC	14.37:g.92441013_92441014delinsCC	ENSP00000267622:p.Pro1844Arg		91510766|91510767	B2RUT2|O14689|O15154|O95949	Silent|Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1																																																																																				0.371	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			CC	92441014	GG	CC	92441013	3	2	90	1	0	0	0	0	1	0	0	0	16555	1335	47	3	419	3	TRIP11	14	92441013	Missense_Mutation	DNP	GG	TCGA-13-0804-01A-01W-0372-09	32247340	92441013	14908527	28	4664											
TARSL2	123283	genome.wustl.edu	37	15	102226205	102226205	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr15:102226205G>A	ENST00000335968.3	-	11	1597	c.1381C>T	c.(1381-1383)Ctc>Ttc	p.L461F	snoU13_ENST00000458877.1_RNA	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	461					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.L461F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTTCCCAGAGTTTACTGTTG	0.453																																																1	Substitution - Missense(1)	ovary(1)	15											154	144	147					15																	102226205		2203	4300	6503	100043728	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1381C>T	15.37:g.102226205G>A	ENSP00000338093:p.Leu461Phe		100043728	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339590	0.81911	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.72167	-0.63;-0.63	5.93	5.0	0.66597	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.061001	0.64402	D	0.000002	D	0.90205	0.6938	H	0.98446	4.235	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93781	0.7084	10	0.87932	D	0	-12.946	14.7998	0.69906	0.0:0.1449:0.8551:0.0	.	461;366	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	F	461;366;461	ENSP00000338093:L461F;ENSP00000439899:L461F	ENSP00000329291:L366F	L	-	1	0	TARSL2	100043728	1.000000	0.71417	0.888000	0.34837	0.982000	0.71751	5.506000	0.66993	1.480000	0.48289	0.655000	0.94253	CTC		0.453	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		A	102226205	G	A	102226205	3	1	90	1	0	0	0	0	1	0	0	0	15561	1029	36	2	1063	2	TARSL2	15	102226205	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09		102226205	305187	29	4665											
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	90	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09		7577120	73618090	30	4666											
BRCA1	672	genome.wustl.edu	37	17	41258544	41258544	+	Missense_Mutation	SNP	G	G	C	rs398122635		TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	PCR	454_PCR_WGA		dbGAP	ABI 3730xl	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr17:41258544G>C	ENST00000357654.3	-	4	259	c.141C>G	c.(139-141)tgC>tgG	p.C47W	BRCA1_ENST00000354071.3_Missense_Mutation_p.C47W|BRCA1_ENST00000351666.3_Missense_Mutation_p.C47W|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.C47W|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000468300.1_Missense_Mutation_p.C47W|BRCA1_ENST00000346315.3_Missense_Mutation_p.C47W|BRCA1_ENST00000471181.2_Missense_Mutation_p.C47W|BRCA1_ENST00000491747.2_Missense_Mutation_p.C47W	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	47					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C47W(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTTCAGCATGCAAAATCTAT	0.308			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Missense(1)	ovary(1)	17											36	35	35					17																	41258544		2201	4294	6495	38512070	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.141C>G	17.37:g.41258544G>C	ENSP00000350283:p.Cys47Trp		38512070	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705325	0.48412	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000471181;ENST00000491747;ENST00000478531;ENST00000470026;ENST00000494123;ENST00000476777	D;D;D;D;D;D;D;D;D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43	5.17	2.51	0.30379	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000043	D	0.99778	0.9908	H	0.98918	4.37	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.997;1.0;0.997;0.998;1.0;0.971	D	0.98177	1.0455	10	0.87932	D	0	-9.9481	5.0554	0.14529	0.7136:0.1759:0.1105:0.0	.	47;47;47;47;47;47	E7ETR2;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398	.;.;.;.;.;BRCA1_HUMAN	W	47	ENSP00000350283:C47W;ENSP00000326002:C47W;ENSP00000312236:C47W;ENSP00000246907:C47W;ENSP00000338007:C47W;ENSP00000417148:C47W;ENSP00000418960:C47W;ENSP00000420705:C47W;ENSP00000420412:C47W;ENSP00000419274:C47W;ENSP00000419103:C47W;ENSP00000417554:C47W	ENSP00000246907:C47W	C	-	3	2	BRCA1	38512070	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.078000	0.30754	0.781000	0.33589	-0.218000	0.12543	TGC		0.308	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		C	41258544	G	C	41258544	3	2	90	1	0	0	0	0	1	0	0	0	1498	1311	46	3	5600	3	BRCA1	17	41258544	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09	33681424	41258544	39936666	31	4667											
AKAP8L	26993	genome.wustl.edu	37	19	15511127	15511127	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr19:15511127C>A	ENST00000397410.5	-	8	1157	c.1027G>T	c.(1027-1029)Ggc>Tgc	p.G343C	AKAP8L_ENST00000595465.2_Missense_Mutation_p.G282C|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	343						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G343C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCCTCTTTGCCTTCTTCTCTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											111	124	120					19																	15511127		1937	4145	6082	15372127	SO:0001583	missense	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1027G>T	19.37:g.15511127C>A	ENSP00000380557:p.Gly343Cys		15372127	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970882	0.34754	.	.	ENSG00000011243	ENST00000397410	T	0.47869	0.83	4.49	1.13	0.20643	.	0.892267	0.09770	N	0.758146	T	0.40473	0.1118	N	0.08118	0	0.29844	N	0.828989	D;D;D	0.65815	0.992;0.995;0.992	P;P;P	0.58873	0.667;0.847;0.667	T	0.40403	-0.9565	10	0.87932	D	0	-13.6	6.7022	0.23230	0.0:0.6918:0.0:0.3082	.	282;343;343	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	C	343	ENSP00000380557:G343C	ENSP00000380557:G343C	G	-	1	0	AKAP8L	15372127	0.025000	0.19082	0.359000	0.25824	0.850000	0.48378	-0.011000	0.12721	0.536000	0.28733	0.561000	0.74099	GGC		0.498	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		A	15511127	C	A	15511127	3	1	90	1	0	0	0	0	1	0	0	0	458	681	24	3	941	3	AKAP8L	19	15511127	Missense_Mutation	SNP	C	TCGA-13-0804-01A-01W-0372-09		15511127	43617856	32	4668											
CBLC	23624	genome.wustl.edu	37	19	45296791	45296791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr19:45296791delA	ENST00000270279.3	+	8	1261	c.1198delA	c.(1198-1200)agtfs	p.S400fs	CBLC_ENST00000341505.4_Frame_Shift_Del_p.S354fs	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	400	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S400fs*55(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GGAGGCCGTGAGTATCTACCA	0.647			M		AML																																		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	1	Deletion - Frameshift(1)	ovary(1)	19											48	41	43					19																	45296791		2203	4300	6503	49988631	SO:0001589	frameshift_variant	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1198delA	19.37:g.45296791delA	ENSP00000270279:p.Ser400fs		49988631	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Frame_Shift_Del	DEL	ENST00000270279.3	37	CCDS12643.1																																																																																				0.647	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		-	45296791	A	-	45296791	7	5	90	1	0	1	0	1	0	0	0	0	2702	304	11	0	1228	0	CBLC	19	45296791	Frame_Shift_Del	DEL	A	TCGA-13-0804-01A-01W-0372-09	29785664	45296791	13832192	33	4669											
SYNJ1	8867	genome.wustl.edu	37	21	34011221	34011221	+	Silent	SNP	C	C	T	rs372695378		TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chr21:34011221C>T	ENST00000322229.7	-	30	3911	c.3912G>A	c.(3910-3912)ccG>ccA	p.P1304P	SYNJ1_ENST00000382499.2_Silent_p.P1343P|SYNJ1_ENST00000382491.3_Silent_p.P1257P|SYNJ1_ENST00000433931.2_Silent_p.P1343P|SYNJ1_ENST00000357345.3_Silent_p.P1288P			O43426	SYNJ1_HUMAN	synaptojanin 1	1304	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1304P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GACTTACTTGCGGTTGTGAGG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	21											185	192	189					21																	34011221		2203	4300	6503	32933092	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3912G>A	21.37:g.34011221C>T			32933092	O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.298|0.298	-0.975504|-0.975504	0.02215|0.02215	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000438952|ENST00000418301	.|.	.|.	.|.	5.45|5.45	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.57636|0.57636	0.2067|0.2067	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52472|0.52472	-0.8571|-0.8571	4|4	.|.	.|.	.|.	.|.	11.0891|11.0891	0.48104|0.48104	0.0:0.4996:0.0:0.5004|0.0:0.4996:0.0:0.5004	.|.	.|.	.|.	.|.	T|H	180|125	.|.	.|.	A|R	-|-	1|2	0|0	SYNJ1|SYNJ1	32933092|32933092	0.261000|0.261000	0.24063|0.24063	0.016000|0.016000	0.15963|0.15963	0.073000|0.073000	0.16967|0.16967	-0.425000|-0.425000	0.07017|0.07017	-0.507000|-0.507000	0.06549|0.06549	-0.137000|-0.137000	0.14449|0.14449	GCA|CGC		0.408	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	34011221	C	T	34011221	2	4	90	1	0	0	0	0	0	0	0	1	15452	755	27	1		1	SYNJ1	21	34011221	Silent	SNP	C	TCGA-13-0804-01A-01W-0372-09		34011221	14118674	34	4670											
PCDH19	57526	genome.wustl.edu	37	X	99662583	99662583	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chrX:99662583T>A	ENST00000373034.4	-	1	2688	c.1013A>T	c.(1012-1014)gAc>gTc	p.D338V	PCDH19_ENST00000420881.2_Missense_Mutation_p.D338V|PCDH19_ENST00000255531.7_Missense_Mutation_p.D338V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D338V(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTCATTGGTGTCCAGCACGCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	X											45	49	47					X																	99662583		2198	4276	6474	99549239	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1013A>T	X.37:g.99662583T>A	ENSP00000362125:p.Asp338Val		99549239	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630011	0.67015	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.68025	-0.3;-0.3;-0.3	5.65	5.65	0.86999	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	H	0.99487	4.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.99	D	0.94112	0.7372	10	0.87932	D	0	.	15.0094	0.71539	0.0:0.0:0.0:1.0	.	338;338;338	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	V	338	ENSP00000400327:D338V;ENSP00000362125:D338V;ENSP00000255531:D338V	ENSP00000255531:D338V	D	-	2	0	PCDH19	99549239	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	7.997000	0.88414	1.995000	0.58328	0.417000	0.27973	GAC		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		A	99662583	T	A	99662583	3	1	90	1	0	0	0	0	1	0	0	0	11514	1667	58	5	2457	5	PCDH19	23	99662583	Missense_Mutation	SNP	T	TCGA-13-0804-01A-01W-0372-09		99662583	55607977	35	4671											
GPRASP1	9737	genome.wustl.edu	37	X	101910812	101910812	+	Silent	SNP	G	G	C	rs200972610		TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chrX:101910812G>C	ENST00000361600.5	+	5	2772	c.1971G>C	c.(1969-1971)ggG>ggC	p.G657G	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.G657G|GPRASP1_ENST00000537097.1_Silent_p.G657G|GPRASP1_ENST00000415986.1_Silent_p.G657G	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	657	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.G657G(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAAGCATGGGACTGGTGTCA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	X											127	119	122					X																	101910812		2203	4300	6503	101797468	SO:0001819	synonymous_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1971G>C	X.37:g.101910812G>C			101797468	O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	CCDS35352.1																																																																																				0.498	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		C	101910812	G	C	101910812	2	2	90	1	0	0	0	0	0	0	0	1	6722	1161	41	3		3	GPRASP1	23	101910812	Silent	SNP	G	TCGA-13-0804-01A-01W-0372-09	2248229	101910812	53359748	36	4672											
GPR101	83550	genome.wustl.edu	37	X	136113808	136113808	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0804-01A-01W-0372-09	TCGA-13-0804-10A-01W-0372-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7f39610d-45b8-45ae-806e-16b7acebafa6	abc97972-5d80-42cc-8131-921a4f1993f1	g.chrX:136113808G>A	ENST00000298110.1	-	1	25	c.26C>T	c.(25-27)aCg>aTg	p.T9M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T9M(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACTCTCGCGCGTGCTGTTGGT	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											92	51	65					X																	136113808		2203	4300	6503	135941474	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.26C>T	X.37:g.136113808G>A	ENSP00000298110:p.Thr9Met		135941474	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414170	0.42817	.	.	ENSG00000165370	ENST00000298110	T	0.65549	-0.16	4.79	3.87	0.44632	.	.	.	.	.	T	0.62600	0.2441	N	0.24115	0.695	0.23101	N	0.998292	D	0.76494	0.999	P	0.59487	0.858	T	0.53837	-0.8382	9	0.45353	T	0.12	-9.7465	12.3859	0.55333	0.0:0.1674:0.8326:0.0	.	9	Q96P66	GP101_HUMAN	M	9	ENSP00000298110:T9M	ENSP00000298110:T9M	T	-	2	0	GPR101	135941474	0.032000	0.19561	0.648000	0.29521	0.658000	0.38924	0.294000	0.19047	2.100000	0.63781	0.544000	0.68410	ACG		0.622	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			A	136113808	G	A	136113808	3	1	90	1	0	0	0	0	1	0	0	0	6622	1145	40	1	1503	1	GPR101	23	136113808	Missense_Mutation	SNP	G	TCGA-13-0804-01A-01W-0372-09	34202996	136113808	19156752	37	4673											
TP73	7161	genome.wustl.edu	37	1	3624325	3624325	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr1:3624325G>T	ENST00000378295.4	+	4	554	c.399G>T	c.(397-399)caG>caT	p.Q133H	TP73_ENST00000346387.4_Missense_Mutation_p.Q133H|TP73_ENST00000604074.1_Missense_Mutation_p.Q133H|TP73_ENST00000378290.4_Missense_Mutation_p.Q62H|TP73_ENST00000378288.4_Missense_Mutation_p.Q84H|TP73_ENST00000604479.1_Missense_Mutation_p.Q133H|TP73_ENST00000378280.1_Missense_Mutation_p.Q84H|TP73_ENST00000378285.1_Missense_Mutation_p.Q84H|TP73_ENST00000603362.1_Missense_Mutation_p.Q133H|TP73_ENST00000357733.3_Missense_Mutation_p.Q133H|TP73_ENST00000354437.4_Missense_Mutation_p.Q133H	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	133	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q133H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CTTTCCAGCAGTCCAGCACGG	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											51	46	48					1																	3624325		2202	4300	6502	3614185	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.399G>T	1.37:g.3624325G>T	ENSP00000367545:p.Gln133His		3614185	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565391	0.45694	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99795	-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78	4.6	3.68	0.42216	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	0.99480	0.9815	L	0.53617	1.68	0.54753	D	0.999986	D;D;D;D;D;D;D	0.89917	0.995;0.996;0.996;0.999;0.995;1.0;0.998	D;D;D;D;D;D;D	0.85130	0.993;0.992;0.996;0.992;0.985;0.997;0.994	D	0.98701	1.0700	10	0.42905	T	0.14	-19.9436	7.9762	0.30155	0.2631:0.0:0.7369:0.0	.	84;62;84;84;84;133;133	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	H	133;133;133;133;84;84;84;62	ENSP00000367545:Q133H;ENSP00000346423:Q133H;ENSP00000350366:Q133H;ENSP00000340740:Q133H;ENSP00000367537:Q84H;ENSP00000367534:Q84H;ENSP00000367529:Q84H;ENSP00000367539:Q62H	ENSP00000340740:Q133H	Q	+	3	2	TP73	3614185	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.737000	0.47393	0.916000	0.36871	0.491000	0.48974	CAG		0.662	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		T	3624325	G	T	3624325	3	4	91	1	0	0	0	0	1	0	0	0	16393	1020	36	3	452	3	TP73	1	3624325	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09		3624325	245626296	1	4674											
UBXN10	127733	genome.wustl.edu	37	1	20517093	20517093	+	Silent	SNP	G	G	A	rs534420264		TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr1:20517093G>A	ENST00000375099.3	+	2	123	c.39G>A	c.(37-39)gaG>gaA	p.E13E		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	13								p.E13E(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CACCACCTGAGTGTAGCACTG	0.502													G|||	1	0.000199681	0	0	5008	,	,		17848	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1											92	88	89					1																	20517093		2203	4300	6503	20389680	SO:0001819	synonymous_variant	127733			AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"UBX domain containing"	26354	protein-coding gene	gene with protein product			"UBX domain containing 3"	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.39G>A	1.37:g.20517093G>A			20389680	Q5R386	Silent	SNP	ENST00000375099.3	37	CCDS205.1																																																																																				0.502	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		A	20517093	G	A	20517093	2	1	91	1	0	0	0	0	0	0	0	1	16912	1020	36	2		2	UBXN10	1	20517093	Silent	SNP	G	TCGA-13-0807-01B-02W-0421-09	16892768	20517093	228733528	2	4675											
MAST2	23139	genome.wustl.edu	37	1	46494576	46494576	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr1:46494576C>T	ENST00000361297.2	+	18	2472	c.2189C>T	c.(2188-2190)cCg>cTg	p.P730L	MAST2_ENST00000372009.2_Missense_Mutation_p.P660L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.P730L(2)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGAGATACTCCGGAGGAGCTC	0.547																																																2	Substitution - Missense(2)	ovary(2)	1											182	182	182					1																	46494576		1977	4172	6149	46267163	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2189C>T	1.37:g.46494576C>T	ENSP00000354671:p.Pro730Leu		46267163		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913380	0.92178	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.64618	-0.11;-0.11;-0.11	4.24	4.24	0.50183	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	0.66066	0.2752	N	0.16016	0.355	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.91635	0.992;0.913;0.999;0.986	T	0.74100	-0.3774	10	0.87932	D	0	-15.8602	16.9858	0.86339	0.0:1.0:0.0:0.0	.	660;404;660;730	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	L	730;660;404;615	ENSP00000354671:P730L;ENSP00000361079:P660L;ENSP00000361078:P615L	ENSP00000354671:P730L	P	+	2	0	MAST2	46267163	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.772000	0.85439	2.045000	0.60652	0.561000	0.74099	CCG		0.547	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		T	46494576	C	T	46494576	3	4	91	1	0	0	0	0	1	0	0	0	9325	652	23	1	2259	1	MAST2	1	46494576	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	25977483	46494576	202756045	3	4676											
MNDA	4332	genome.wustl.edu	37	1	158812137	158812137	+	Missense_Mutation	SNP	T	T	G	rs200437746		TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr1:158812137T>G	ENST00000368141.4	+	2	455	c.194T>G	c.(193-195)cTa>cGa	p.L65R	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	65	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L65R(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CTAGACAAACTAATAGAACTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											111	120	117					1																	158812137		2202	4300	6502	157078761	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.194T>G	1.37:g.158812137T>G	ENSP00000357123:p.Leu65Arg		157078761		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.376736	0.42105	.	.	ENSG00000163563	ENST00000368141	T	0.54479	0.57	3.35	3.35	0.38373	Pyrin (2);	.	.	.	.	T	0.57213	0.2038	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.46105	-0.9215	9	0.87932	D	0	-2.6941	8.3033	0.32027	0.0:0.0:0.0:1.0	.	65	P41218	MNDA_HUMAN	R	65	ENSP00000357123:L65R	ENSP00000357123:L65R	L	+	2	0	MNDA	157078761	0.014000	0.17966	0.002000	0.10522	0.002000	0.02628	2.896000	0.48656	1.507000	0.48752	0.455000	0.32223	CTA		0.343	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		G	158812137	T	G	158812137	3	3	91	1	0	0	0	0	1	0	0	0	9676	1522	53	5	196	5	MNDA	1	158812137	Missense_Mutation	SNP	T	TCGA-13-0807-01B-02W-0421-09	112317561	158812137	90438484	4	4677											
RGS7	6000	genome.wustl.edu	37	1	241033371	241033371	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr1:241033371A>T	ENST00000407727.1	-	6	433	c.434T>A	c.(433-435)cTc>cAc	p.L145H	RGS7_ENST00000331110.7_Missense_Mutation_p.L119H|RGS7_ENST00000446183.2_Missense_Mutation_p.L61H|RGS7_ENST00000401882.1_Missense_Mutation_p.L92H|RGS7_ENST00000366562.4_Missense_Mutation_p.L145H|RGS7_ENST00000366563.1_Missense_Mutation_p.L145H|RGS7_ENST00000366565.1_Missense_Mutation_p.L145H|RGS7_ENST00000348120.2_Missense_Mutation_p.L92H|RGS7_ENST00000366564.1_Missense_Mutation_p.L145H			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	145					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.L145H(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ATAGTCTGCGAGCTCCAGTCG	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											242	203	216					1																	241033371		2203	4300	6503	239099994	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.434T>A	1.37:g.241033371A>T	ENSP00000384428:p.Leu145His		239099994	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	A	22.6	4.307252	0.81247	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T	0.55052	0.72;0.7;0.72;0.73;0.54;0.71;0.72;0.7;0.54	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	T	0.71846	0.3388	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D;D	0.89917	0.987;1.0;1.0;0.992;1.0;0.999	P;D;D;D;D;D	0.97110	0.803;0.999;1.0;0.929;1.0;0.987	T	0.74408	-0.3675	10	0.62326	D	0.03	-9.7281	15.4321	0.75108	1.0:0.0:0.0:0.0	.	61;119;92;145;145;145	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.;.	H	119;145;145;145;92;61;145;145;92	ENSP00000331485:L119H;ENSP00000355523:L145H;ENSP00000355522:L145H;ENSP00000355521:L145H;ENSP00000341242:L92H;ENSP00000390138:L61H;ENSP00000355520:L145H;ENSP00000384428:L145H;ENSP00000385508:L92H	ENSP00000331485:L119H	L	-	2	0	RGS7	239099994	1.000000	0.71417	0.371000	0.25978	0.940000	0.58332	9.203000	0.95033	2.232000	0.73038	0.482000	0.46254	CTC		0.453	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		T	241033371	A	T	241033371	3	4	91	1	0	0	0	0	1	0	0	0	13313	304	11	5	1077	5	RGS7	1	241033371	Missense_Mutation	SNP	A	TCGA-13-0807-01B-02W-0421-09	82221234	241033371	8217250	5	4678											
DYSF	8291	genome.wustl.edu	37	2	71795139	71795139	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr2:71795139G>T	ENST00000258104.3	+	25	2847	c.2570G>T	c.(2569-2571)tGg>tTg	p.W857L	DYSF_ENST00000410020.3_Missense_Mutation_p.W875L|DYSF_ENST00000409366.1_Missense_Mutation_p.W858L|DYSF_ENST00000413539.2_Missense_Mutation_p.W888L|DYSF_ENST00000394120.2_Missense_Mutation_p.W858L|DYSF_ENST00000429174.2_Missense_Mutation_p.W857L|DYSF_ENST00000409651.1_Missense_Mutation_p.W889L|DYSF_ENST00000410041.1_Missense_Mutation_p.W875L|DYSF_ENST00000409762.1_Missense_Mutation_p.W874L|DYSF_ENST00000409744.1_Missense_Mutation_p.W844L|DYSF_ENST00000409582.3_Missense_Mutation_p.W874L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	857					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.W857L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTCAAGCTGTGGTTTGGGCTC	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											162	149	154					2																	71795139		2203	4300	6503	71648647	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2570G>T	2.37:g.71795139G>T	ENSP00000258104:p.Trp857Leu		71648647	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380946	0.82792	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.97	4.09	0.47781	Ferlin B-domain (1);	0.147984	0.52532	D	0.000069	D	0.90631	0.7062	M	0.91140	3.18	0.50467	D	0.999875	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.985;0.985;0.985;0.99;0.999;0.985;1.0;0.999;0.999;0.999	D	0.91420	0.5158	10	0.87932	D	0	-11.6246	10.8726	0.46891	0.0923:0.0:0.9077:0.0	.	889;875;858;844;875;844;874;843;888;874;857;843;858;857	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	L	888;874;874;857;857;889;858;844;858;875;875	ENSP00000407046:W888L;ENSP00000387137:W874L;ENSP00000386547:W874L;ENSP00000398305:W857L;ENSP00000258104:W857L;ENSP00000386683:W889L;ENSP00000377678:W858L;ENSP00000386285:W844L;ENSP00000386512:W858L;ENSP00000386881:W875L;ENSP00000386617:W875L	ENSP00000258104:W857L	W	+	2	0	DYSF	71648647	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.869000	0.99810	1.090000	0.41315	0.549000	0.68633	TGG		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71795139	G	T	71795139	3	4	91	1	0	0	0	0	1	0	0	0	4859	1357	47	3	2860	3	DYSF	2	71795139	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09		71795139	171404234	6	4679											
PROM2	150696	genome.wustl.edu	37	2	95940495	95940495	+	Silent	SNP	T	T	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr2:95940495T>G	ENST00000317620.9	+	1	295	c.162T>G	c.(160-162)gtT>gtG	p.V54V	PROM2_ENST00000317668.4_Silent_p.V54V|PROM2_ENST00000542147.1_Silent_p.V54V|PROM2_ENST00000403131.2_Silent_p.V54V|PROM2_ENST00000463580.1_3'UTR	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	54					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.V54V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCCTCGAGTTCGTGCGCCAG	0.662																																																1	Substitution - coding silent(1)	ovary(1)	2											73	84	80					2																	95940495		2203	4300	6503	95304222	SO:0001819	synonymous_variant	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.162T>G	2.37:g.95940495T>G			95304222	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	CCDS2012.1																																																																																				0.662	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		G	95940495	T	G	95940495	2	3	91	1	0	0	0	0	0	0	0	1	12559	1770	62	5		5	PROM2	2	95940495	Silent	SNP	T	TCGA-13-0807-01B-02W-0421-09	24145356	95940495	147258878	7	4680											
PTPN18	26469	genome.wustl.edu	37	2	131128838	131128838	+	Missense_Mutation	SNP	C	C	T	rs375251896		TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr2:131128838C>T	ENST00000175756.5	+	12	1092	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C	PTPN18_ENST00000347849.3_Missense_Mutation_p.R224C	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	331					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.R331C(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CGCCATACCCCGCCCACCAGG	0.597																																																1	Substitution - Missense(1)	ovary(1)	2						C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	59	59	59		670,991	1	0	2		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPN18	NM_001142370.1,NM_014369.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	224/354,331/461	131128838	1,13005	2203	4300	6503	130845308	SO:0001583	missense	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.991C>T	2.37:g.131128838C>T	ENSP00000175756:p.Arg331Cys		130845308	B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617597	0.28801	0.0	1.16E-4	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	T;T	0.12361	3.44;2.69	4.05	1.04	0.20106	.	0.627186	0.13346	N	0.394799	T	0.12561	0.0305	L	0.51422	1.61	0.18873	N	0.999984	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.22730	-1.0208	10	0.62326	D	0.03	.	7.1204	0.25442	0.1874:0.4485:0.3641:0.0	.	310;331;224	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	C	331;224;310	ENSP00000175756:R331C;ENSP00000310092:R224C	ENSP00000175756:R331C	R	+	1	0	PTPN18	130845308	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.055000	0.11807	0.210000	0.20664	0.591000	0.81541	CGC		0.597	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			T	131128838	C	T	131128838	3	4	91	1	0	0	0	0	1	0	0	0	12787	652	23	1	1037	1	PTPN18	2	131128838	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	35188343	131128838	112070535	8	4681											
TTN	7273	genome.wustl.edu	37	2	179397613	179397613	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr2:179397613G>C	ENST00000591111.1	-	308	99030	c.98806C>G	c.(98806-98808)Cag>Gag	p.Q32936E	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q34577E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q25704E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q25637E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q25512E|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q32009E|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32936					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q25512E(1)|p.Q32007E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCATACTGATCACGTATC	0.463																																																2	Substitution - Missense(2)	ovary(2)	2											114	109	111					2																	179397613		1993	4172	6165	179105859	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98806C>G	2.37:g.179397613G>C	ENSP00000465570:p.Gln32936Glu		179105859	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.70	2.313996	0.40996	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;0.06;0.04;0.03	5.94	5.94	0.96194	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57755	0.2075	N	0.19112	0.55	0.46609	D	0.999128	P;P;P;P	0.52170	0.905;0.905;0.905;0.951	B;B;B;P	0.46718	0.3;0.3;0.3;0.525	T	0.63134	-0.6705	9	0.87932	D	0	.	19.9583	0.97232	0.0:0.0:1.0:0.0	.	25512;25637;25704;32936	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	32009;25512;25704;25637;25509	ENSP00000343764:Q32009E;ENSP00000434586:Q25512E;ENSP00000340554:Q25704E;ENSP00000352154:Q25637E	ENSP00000340554:Q25704E	Q	-	1	0	TTN	179105859	1.000000	0.71417	0.986000	0.45419	0.921000	0.55340	7.832000	0.86757	2.826000	0.97356	0.561000	0.74099	CAG		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179397613	G	C	179397613	3	2	91	1	0	0	0	0	1	0	0	0	16735	1299	45	3	4270	3	TTN	2	179397613	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09	48268775	179397613	63801760	9	4682											
RBM44	375316	genome.wustl.edu	37	2	238726221	238726221	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr2:238726221G>A	ENST00000409864.1	+	3	916	c.662G>A	c.(661-663)gGa>gAa	p.G221E	RBM44_ENST00000316997.4_Missense_Mutation_p.G221E|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	220						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.G221E(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GTTGAATTAGGAAATTCGGGT	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											38	39	39					2																	238726221		1835	4092	5927	238390960	SO:0001583	missense	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.662G>A	2.37:g.238726221G>A	ENSP00000386727:p.Gly221Glu		238390960	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	8.632	0.893897	0.17613	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.29142	1.58;1.58	5.64	0.595	0.17490	.	0.796166	0.11591	N	0.548739	T	0.12305	0.0299	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.32745	-0.9895	10	0.02654	T	1	-6.3038	1.2823	0.02043	0.3196:0.1385:0.3994:0.1425	.	220	Q6ZP01	RBM44_HUMAN	E	221	ENSP00000321179:G221E;ENSP00000386727:G221E	ENSP00000321179:G221E	G	+	2	0	RBM44	238390960	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	0.128000	0.15810	0.034000	0.15491	0.655000	0.94253	GGA		0.328	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		A	238726221	G	A	238726221	3	1	91	1	0	0	0	0	1	0	0	0	13141	1174	41	2	668	2	RBM44	2	238726221	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09	59328608	238726221	4473152	10	4683											
XYLB	9942	genome.wustl.edu	37	3	38407184	38407184	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr3:38407184G>T	ENST00000207870.3	+	6	554	c.464G>T	c.(463-465)gGt>gTt	p.G155V	XYLB_ENST00000542835.1_Missense_Mutation_p.G18V	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	155					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)	p.G155V(1)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCTGTGGGTGGTGCTCAGGCT	0.657																																																1	Substitution - Missense(1)	ovary(1)	3											35	34	34					3																	38407184		2203	4300	6503	38382188	SO:0001583	missense	9942			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.464G>T	3.37:g.38407184G>T	ENSP00000207870:p.Gly155Val		38382188	B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899106	0.72754	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.49432	0.78;0.78	4.73	4.73	0.59995	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75095	0.3803	M	0.93016	3.37	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.72338	0.977;0.967	T	0.82390	-0.0481	10	0.87932	D	0	.	15.5831	0.76462	0.0:0.0:1.0:0.0	.	18;155	B4DDT2;O75191	.;XYLB_HUMAN	V	155;18	ENSP00000207870:G155V;ENSP00000443659:G18V	ENSP00000207870:G155V	G	+	2	0	XYLB	38382188	1.000000	0.71417	0.715000	0.30552	0.644000	0.38419	8.666000	0.91149	2.331000	0.79229	0.555000	0.69702	GGT		0.657	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		T	38407184	G	T	38407184	3	4	91	1	0	0	0	0	1	0	0	0	17462	1261	44	3	486	3	XYLB	3	38407184	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09		38407184	159615246	11	4684											
ANKRD17	26057	genome.wustl.edu	37	4	73951027	73951027	+	Silent	SNP	G	G	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr4:73951027G>A	ENST00000358602.4	-	30	7214	c.7098C>T	c.(7096-7098)aaC>aaT	p.N2366N	ANKRD17_ENST00000509867.2_Silent_p.N2253N|ANKRD17_ENST00000330838.6_Silent_p.N2115N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2366					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N2366N(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCTGTTAAAGTTAGCAGCTG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	4											177	188	185					4																	73951027		2203	4300	6503	74169891	SO:0001819	synonymous_variant	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7098C>T	4.37:g.73951027G>A			74169891	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	CCDS34004.1																																																																																				0.448	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		A	73951027	G	A	73951027	2	1	91	1	0	0	0	0	0	0	0	1	646	1020	36	2		2	ANKRD17	4	73951027	Silent	SNP	G	TCGA-13-0807-01B-02W-0421-09		73951027	117203249	12	4685											
C4orf27	54969	genome.wustl.edu	37	4	170663135	170663135	+	Silent	SNP	G	G	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr4:170663135G>A	ENST00000393381.2	-	5	696	c.621C>T	c.(619-621)acC>acT	p.T207T		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	207						nucleus (GO:0005634)		p.T207T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TCATCTTCACGGTTCTCTGTT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	4											143	134	137					4																	170663135		2203	4300	6503	170899710	SO:0001819	synonymous_variant	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.621C>T	4.37:g.170663135G>A			170899710		Silent	SNP	ENST00000393381.2	37	CCDS3813.1																																																																																				0.373	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		A	170663135	G	A	170663135	2	1	91	1	0	0	0	0	0	0	0	1	2258	1103	39	1		1	C4orf27	4	170663135	Silent	SNP	G	TCGA-13-0807-01B-02W-0421-09	96712108	170663135	20491141	13	4686											
GPR98	84059	genome.wustl.edu	37	5	89988572	89988572	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr5:89988572A>G	ENST00000405460.2	+	32	7198	c.7102A>G	c.(7102-7104)Agt>Ggt	p.S2368G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2368					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S2368G(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGGAAAGAAGTTCCTGTGC	0.438																																																1	Substitution - Missense(1)	ovary(1)	5											84	83	83					5																	89988572		1890	4104	5994	90024328	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7102A>G	5.37:g.89988572A>G	ENSP00000384582:p.Ser2368Gly		90024328	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.409121	0.42715	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26223	1.75	5.95	4.77	0.60923	.	0.211714	0.64402	D	0.000020	T	0.22244	0.0536	L	0.38175	1.15	0.80722	D	1	D	0.54772	0.968	B	0.42062	0.374	T	0.01182	-1.1426	10	0.44086	T	0.13	.	13.529	0.61611	0.8702:0.1298:0.0:0.0	.	2368	Q8WXG9	GPR98_HUMAN	G	2368	ENSP00000384582:S2368G	ENSP00000296619:S2368G	S	+	1	0	GPR98	90024328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.684000	0.61686	1.042000	0.40150	0.533000	0.62120	AGT		0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89988572	A	G	89988572	3	3	91	1	0	0	0	0	1	0	0	0	6721	72	3	4	7228	4	GPR98	5	89988572	Missense_Mutation	SNP	A	TCGA-13-0807-01B-02W-0421-09		89988572	90926688	14	4687											
DOCK2	1794	genome.wustl.edu	37	5	169230068	169230068	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr5:169230068G>A	ENST00000256935.8	+	26	2641	c.2561G>A	c.(2560-2562)cGg>cAg	p.R854Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R346Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	854					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R854Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGAATGCCGGGACATTCTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											85	79	81					5																	169230068		2203	4300	6503	169162646	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2561G>A	5.37:g.169230068G>A	ENSP00000256935:p.Arg854Gln		169162646	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774093	0.90108	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.68331	-0.32;-0.32;-0.32	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.968	D	0.83927	0.0304	10	0.87932	D	0	.	19.6391	0.95749	0.0:0.0:1.0:0.0	.	346;854	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	854;235;346;58	ENSP00000256935:R854Q;ENSP00000429283:R346Q;ENSP00000428841:R58Q	ENSP00000256935:R854Q	R	+	2	0	DOCK2	169162646	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.688000	0.74557	2.715000	0.92844	0.655000	0.94253	CGG		0.403	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169230068	G	A	169230068	3	1	91	1	0	0	0	0	1	0	0	0	4687	1116	39	1	2663	1	DOCK2	5	169230068	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09	79241496	169230068	11685192	15	4688											
TCP11	6954	genome.wustl.edu	37	6	35088057	35088057	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr6:35088057C>A	ENST00000512012.1	-	7	1150	c.994G>T	c.(994-996)Gtc>Ttc	p.V332F	TCP11_ENST00000244645.3_Missense_Mutation_p.V270F|TCP11_ENST00000373974.4_Missense_Mutation_p.V299F|TCP11_ENST00000311875.5_Missense_Mutation_p.V345F|TCP11_ENST00000412155.2_Missense_Mutation_p.V294F|TCP11_ENST00000373979.2_Missense_Mutation_p.V270F|TCP11_ENST00000418521.2_Missense_Mutation_p.V269F|TCP11_ENST00000444780.2_Missense_Mutation_p.V340F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	332					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V270I(1)|p.V270F(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GAGGCCATGACGGTTAACTGG	0.532																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	6											71	72	71					6																	35088057		2203	4300	6503	35196035	SO:0001583	missense	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.994G>T	6.37:g.35088057C>A	ENSP00000425995:p.Val332Phe		35196035	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.88|10.88	1.475028|1.475028	0.26511|0.26511	.|.	.|.	ENSG00000124678|ENSG00000124678	ENST00000502480|ENST00000373979;ENST00000412155;ENST00000244645;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	.|T;T;T;T;T;T;T;T;T	.|0.13089	.|2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.03|5.03	-3.11|-3.11	0.05299|0.05299	.|.	.|0.711091	.|0.13681	.|N	.|0.370211	T|T	0.10078|0.10078	0.0247|0.0247	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P;B	.|0.45986	.|0.87;0.87;0.87;0.87;0.87;0.446	.|P;P;P;P;P;B	.|0.48454	.|0.578;0.578;0.578;0.578;0.45;0.385	T|T	0.07654|0.07654	-1.0761|-1.0761	5|10	.|0.49607	.|T	.|0.09	.|.	12.8627|12.8627	0.57922|0.57922	0.0:0.4997:0.0:0.5003|0.0:0.4997:0.0:0.5003	.|.	.|299;294;340;405;332;270	.|B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.|.;.;.;.;TCP11_HUMAN;.	L|F	139|270;294;270;345;340;299;269;332;191	.|ENSP00000363091:V270F;ENSP00000402816:V294F;ENSP00000244645:V270F;ENSP00000308708:V345F;ENSP00000404479:V340F;ENSP00000363085:V299F;ENSP00000415320:V269F;ENSP00000425995:V332F;ENSP00000421103:V191F	.|ENSP00000244645:V270F	R|V	-|-	2|1	0|0	TCP11|TCP11	35196035|35196035	0.008000|0.008000	0.16893|0.16893	0.778000|0.778000	0.31720|0.31720	0.098000|0.098000	0.18820|0.18820	-1.191000|-1.191000	0.03055|0.03055	-0.824000|-0.824000	0.04295|0.04295	-1.266000|-1.266000	0.01441|0.01441	CGT|GTC		0.532	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		A	35088057	C	A	35088057	3	1	91	1	0	0	0	0	1	0	0	0	15713	536	19	3	529	3	TCP11	6	35088057	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09		35088057	136027010	16	4689											
KCNK16	83795	genome.wustl.edu	37	6	39282850	39282850	+	Silent	SNP	G	G	C			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr6:39282850G>C	ENST00000373229.5	-	6	871	c.858C>G	c.(856-858)ggC>ggG	p.G286G	KCNK16_ENST00000373227.4_Silent_p.G239G|KCNK17_ENST00000453413.2_5'Flank|KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000507712.1_Silent_p.G174G|KCNK16_ENST00000425054.2_3'UTR	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	286					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G286G(1)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTGCTGTAGAGCCTCTCCTGG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	6											146	135	139					6																	39282850		2203	4300	6503	39390828	SO:0001819	synonymous_variant	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.858C>G	6.37:g.39282850G>C			39390828	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	ENST00000373229.5	37	CCDS4843.1																																																																																				0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		C	39282850	G	C	39282850	2	2	91	1	0	0	0	0	0	0	0	1	8063	958	34	3		3	KCNK16	6	39282850	Silent	SNP	G	TCGA-13-0807-01B-02W-0421-09	4194793	39282850	131832217	17	4690											
BAI3	577	genome.wustl.edu	37	6	69772906	69772906	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr6:69772906T>C	ENST00000370598.1	+	16	3235	c.2414T>C	c.(2413-2415)aTa>aCa	p.I805T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	805					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I805T(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTCTGGAGATAGAACTAGCT	0.378																																																1	Substitution - Missense(1)	ovary(1)	6											147	123	131					6																	69772906		2203	4300	6503	69829627	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2414T>C	6.37:g.69772906T>C	ENSP00000359630:p.Ile805Thr		69829627	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.050575	0.55218	.	.	ENSG00000135298	ENST00000370598	T	0.09723	2.95	5.07	5.07	0.68467	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	M	0.64404	1.975	0.80722	D	1	B	0.21381	0.055	B	0.29353	0.101	T	0.02751	-1.1115	10	0.72032	D	0.01	.	15.1156	0.72397	0.0:0.0:0.0:1.0	.	805	O60242	BAI3_HUMAN	T	805	ENSP00000359630:I805T	ENSP00000359630:I805T	I	+	2	0	BAI3	69829627	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.681000	0.74523	2.009000	0.58944	0.397000	0.26171	ATA		0.378	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			C	69772906	T	C	69772906	3	2	91	1	0	0	0	0	1	0	0	0	1300	1406	49	4	2468	4	BAI3	6	69772906	Missense_Mutation	SNP	T	TCGA-13-0807-01B-02W-0421-09	30490056	69772906	101342161	18	4691											
ACTR3C	653857	genome.wustl.edu	37	7	149983504	149983504	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr7:149983504G>T	ENST00000539352.1	-	5	674	c.423C>A	c.(421-423)gaC>gaA	p.D141E	ACTR3C_ENST00000252071.4_Missense_Mutation_p.D141E	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	141						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D141E(1)									CGTAACCAACGTCTATAACAA	0.433																																																1	Substitution - Missense(1)	ovary(1)	7											85	100	95					7																	149983504		692	1590	2282	149614437	SO:0001583	missense	0				CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526			37282	protein-coding gene	gene with protein product						11162478, 14651955	Standard	NM_001164458		Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.423C>A	7.37:g.149983504G>T	ENSP00000440990:p.Asp141Glu		149614437	Q5CZI4	Missense_Mutation	SNP	ENST00000539352.1	37	CCDS47744.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914048	0.17907	.	.	ENSG00000106526	ENST00000478393;ENST00000252071;ENST00000539352	T;T;T	0.07800	3.16;3.16;3.16	2.3	-1.46	0.08800	.	0.000000	0.64402	D	0.000002	T	0.08179	0.0204	L	0.58510	1.815	0.24732	N	0.993082	B	0.23540	0.087	B	0.28991	0.097	T	0.30563	-0.9974	9	.	.	.	.	7.1633	0.25677	0.4134:0.0:0.5866:0.0	.	141	Q9C0K3	ARP3C_HUMAN	E	139;141;141	ENSP00000417426:D139E;ENSP00000252071:D141E;ENSP00000440990:D141E	.	D	-	3	2	ACTR3C	149614437	0.992000	0.36948	0.962000	0.40283	0.366000	0.29705	0.445000	0.21677	-0.302000	0.08869	0.184000	0.17185	GAC		0.433	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350676.2			T	149983504	G	T	149983504	3	4	91	1	0	0	0	0	1	0	0	0	214	1136	40	3	221	3	ACTR3C	7	149983504	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09		149983504	9155159	19	4692											
RP1L1	94137	genome.wustl.edu	37	8	10466880	10466880	+	Silent	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr8:10466880G>T	ENST00000382483.3	-	4	4951	c.4728C>A	c.(4726-4728)ctC>ctA	p.L1576L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1656					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.L1576L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGAGCTTCTGGAGCTCTCTCT	0.677																																																1	Substitution - coding silent(1)	ovary(1)	8											12	15	14					8																	10466880		2022	4152	6174	10504290	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4728C>A	8.37:g.10466880G>T			10504290	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.677	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10466880	G	T	10466880	2	4	91	1	0	0	0	0	0	0	0	1	13536	1161	41	3		3	RP1L1	8	10466880	Silent	SNP	G	TCGA-13-0807-01B-02W-0421-09		10466880	135897142	20	4693											
RIMS2	9699	genome.wustl.edu	37	8	104955050	104955050	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr8:104955050A>C	ENST00000436393.2	+	12	2172	c.1931A>C	c.(1930-1932)tAc>tCc	p.Y644S	RIMS2_ENST00000507740.1_Missense_Mutation_p.Y658S|RIMS2_ENST00000262231.10_Missense_Mutation_p.Y705S|RIMS2_ENST00000406091.3_Missense_Mutation_p.Y866S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	928					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.Y644S(1)|p.Y658S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCACATTGGTACAAACTTCAG	0.408										HNSCC(12;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	8											78	73	74					8																	104955050		1890	4119	6009	105024226	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1931A>C	8.37:g.104955050A>C	ENSP00000390665:p.Tyr644Ser		105024226	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	A	25.7	4.662702	0.88251	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.17	5.17	0.71159	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.87509	0.6195	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	0.975;0.995;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.933;0.985;0.999;0.994;0.999;0.998	D	0.89149	0.3522	9	0.87932	D	0	.	15.3133	0.74053	1.0:0.0:0.0:0.0	.	928;928;644;705;658;866	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	S	866;881;866;928;658;705;658;658;644	ENSP00000427018:Y866S;ENSP00000384892:Y866S;ENSP00000425205:Y658S;ENSP00000262231:Y705S;ENSP00000423559:Y658S;ENSP00000386228:Y658S;ENSP00000390665:Y644S	ENSP00000262231:Y705S	Y	+	2	0	RIMS2	105024226	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.229000	0.95273	2.064000	0.61679	0.482000	0.46254	TAC		0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		C	104955050	A	C	104955050	3	2	91	1	0	0	0	0	1	0	0	0	13371	391	14	5	2777	5	RIMS2	8	104955050	Missense_Mutation	SNP	A	TCGA-13-0807-01B-02W-0421-09	94488170	104955050	41408972	21	4694											
EIF3E	3646	genome.wustl.edu	37	8	109241314	109241314	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr8:109241314C>G	ENST00000220849.5	-	6	644	c.582G>C	c.(580-582)gaG>gaC	p.E194D	EIF3E_ENST00000519030.1_Missense_Mutation_p.E101D|EIF3E_ENST00000519517.1_5'UTR|RP11-35G22.1_ENST00000520037.1_RNA	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.E194D(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TATCTATGGTCTCTTTTAACC	0.383																																					GBM(15;360 410 8460 34179 52246)											1	Substitution - Missense(1)	ovary(1)	8											138	132	134					8																	109241314		2203	4300	6503	109310490	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.582G>C	8.37:g.109241314C>G	ENSP00000220849:p.Glu194Asp		109310490		Missense_Mutation	SNP	ENST00000220849.5	37	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.082|9.082	0.999461|0.999461	0.19121|0.19121	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000522352|ENST00000220849;ENST00000519030;ENST00000519627	.|T;T;T	.|0.47177	.|0.85;0.85;0.85	5.48|5.48	3.66|3.66	0.41972|0.41972	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30759|0.30759	0.0775|0.0775	L|L	0.28014|0.28014	0.82|0.82	0.53005|0.53005	D|D	0.999966|0.999966	.|B;B	.|0.19935	.|0.009;0.04	.|B;B	.|0.20955	.|0.003;0.032	T|T	0.05784|0.05784	-1.0864|-1.0864	5|10	.|0.16896	.|T	.|0.51	-19.8834|-19.8834	8.9435|8.9435	0.35745|0.35745	0.0:0.7133:0.0:0.2867|0.0:0.7133:0.0:0.2867	.|.	.|194;194	.|B2R806;P60228	.|.;EIF3E_HUMAN	H|D	18|194;101;67	.|ENSP00000220849:E194D;ENSP00000428796:E101D;ENSP00000430839:E67D	.|ENSP00000220849:E194D	D|E	-|-	1|3	0|2	EIF3E|EIF3E	109310490|109310490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	1.272000|1.272000	0.33109|0.33109	0.773000|0.773000	0.33404|0.33404	-0.237000|-0.237000	0.12165|0.12165	GAC|GAG		0.383	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		G	109241314	C	G	109241314	3	3	91	1	0	0	0	0	1	0	0	0	5015	912	32	3	787	3	EIF3E	8	109241314	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	4286264	109241314	37122708	22	4695											
GLDC	2731	genome.wustl.edu	37	9	6589283	6589283	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr9:6589283C>G	ENST00000321612.6	-	12	1642	c.1492G>C	c.(1492-1494)Gct>Cct	p.A498P		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	498					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.A498P(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	ATGCTTTCAGCAACCAGTTCC	0.537																																																1	Substitution - Missense(1)	ovary(1)	9											105	83	90					9																	6589283		2203	4300	6503	6579283	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1492G>C	9.37:g.6589283C>G	ENSP00000370737:p.Ala498Pro		6579283	Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827254	0.71143	.	.	ENSG00000178445	ENST00000321612	D	0.99220	-5.58	5.37	5.37	0.77165	.	0.101272	0.64402	D	0.000002	D	0.98115	0.9378	L	0.29908	0.895	0.80722	D	1	P	0.50443	0.935	P	0.48627	0.584	D	0.98316	1.0526	10	0.33940	T	0.23	-12.7695	19.0949	0.93246	0.0:1.0:0.0:0.0	.	498	P23378	GCSP_HUMAN	P	498	ENSP00000370737:A498P	ENSP00000370737:A498P	A	-	1	0	GLDC	6579283	1.000000	0.71417	0.999000	0.59377	0.380000	0.30137	7.051000	0.76627	2.510000	0.84645	0.557000	0.71058	GCT		0.537	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		G	6589283	C	G	6589283	3	3	91	1	0	0	0	0	1	0	0	0	6433	710	25	3	1626	3	GLDC	9	6589283	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09		6589283	134624148	23	4696											
IFNA1	3439	genome.wustl.edu	37	9	21440948	21440948	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr9:21440948C>G	ENST00000276927.1	+	1	509	c.442C>G	c.(442-444)Cga>Gga	p.R148G		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	148					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R148G(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GAAATACTTCCGAAGAATCAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	9											31	38	35					9																	21440948		2135	4234	6369	21430948	SO:0001583	missense	3439				CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"Interferons"	5417	protein-coding gene	gene with protein product	"IFN-alpha 1b", "interferon alpha 1b"	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.442C>G	9.37:g.21440948C>G	ENSP00000276927:p.Arg148Gly		21430948	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000276927.1	37	CCDS6508.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117491	0.37339	.	.	ENSG00000197919	ENST00000276927	T	0.05649	3.41	3.12	1.2	0.21068	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.522676	0.20658	N	0.088072	T	0.07728	0.0194	L	0.31752	0.955	0.24151	N	0.995692	B	0.31009	0.303	B	0.44224	0.444	T	0.29427	-1.0012	10	0.87932	D	0	.	6.5509	0.22433	0.0:0.7352:0.0:0.2648	.	148	P01562	IFNA1_HUMAN	G	148	ENSP00000276927:R148G	ENSP00000276927:R148G	R	+	1	2	IFNA1	21430948	0.195000	0.23338	0.666000	0.29783	0.610000	0.37248	0.300000	0.19156	0.632000	0.30432	0.536000	0.68110	CGA		0.478	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051902.1	NM_024013		G	21440948	C	G	21440948	3	3	91	1	0	0	0	0	1	0	0	0	7531	644	23	3	444	3	IFNA1	9	21440948	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	14851665	21440948	119772483	24	4697											
PTCH1	5727	genome.wustl.edu	37	9	98239912	98239912	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr9:98239912C>T	ENST00000331920.6	-	10	1719	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PTCH1_ENST00000437951.1_Missense_Mutation_p.V408I|PTCH1_ENST00000430669.2_Missense_Mutation_p.V408I|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000429896.2_Missense_Mutation_p.V323I|PTCH1_ENST00000375274.2_Missense_Mutation_p.V473I|PTCH1_ENST00000418258.1_Missense_Mutation_p.V323I|PTCH1_ENST00000421141.1_Missense_Mutation_p.V323I	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	474	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V474I(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACCAGCAGGACGCCAGCCAGC	0.572																																																2	Substitution - Missense(2)	ovary(2)	9	GRCh37	CI054492	PTCH1	I							41	42	42					9																	98239912		2203	4300	6503	97279733	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1420G>A	9.37:g.98239912C>T	ENSP00000332353:p.Val474Ile		97279733	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476877	0.96291	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81;-3.81;-3.81	5.06	5.06	0.68205	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	L	0.52364	1.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.994	D	0.95315	0.8415	10	0.27082	T	0.32	-35.802	18.6256	0.91336	0.0:1.0:0.0:0.0	.	408;473;474	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	I	474;408;323;323;408;323;473	ENSP00000332353:V474I;ENSP00000389744:V408I;ENSP00000399981:V323I;ENSP00000396135:V323I;ENSP00000410287:V408I;ENSP00000414823:V323I;ENSP00000364423:V473I	ENSP00000332353:V474I	V	-	1	0	PTCH1	97279733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.619000	0.88677	0.655000	0.94253	GTC		0.572	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98239912	C	T	98239912	3	4	91	1	0	0	0	0	1	0	0	0	12733	536	19	1	2979	1	PTCH1	9	98239912	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	76798964	98239912	42973519	25	4698											
C9orf84	158401	genome.wustl.edu	37	9	114476800	114476800	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr9:114476800C>A	ENST00000318737.4	-	15	2276	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	C9orf84_ENST00000394779.3_Missense_Mutation_p.K677N|C9orf84_ENST00000374287.3_Missense_Mutation_p.K716N|C9orf84_ENST00000394777.4_Missense_Mutation_p.K642N	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	716								p.K677N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGTTTCAGGCTTTTTCCCCC	0.383																																																1	Substitution - Missense(1)	ovary(1)	9											163	152	156					9																	114476800		2203	4300	6503	113516621	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2148G>T	9.37:g.114476800C>A	ENSP00000322108:p.Lys716Asn		113516621	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806894	0.31961	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05513	3.43;3.48;3.44;3.44	5.87	-0.684	0.11331	.	1.099650	0.06835	N	0.794716	T	0.03136	0.0092	N	0.08118	0	0.26192	N	0.979577	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.11329	0.006;0.006;0.006	T	0.44847	-0.9301	10	0.44086	T	0.13	0.5217	2.0751	0.03623	0.4487:0.2616:0.0975:0.1922	.	642;716;677	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	N	677;642;330;716;716	ENSP00000378259:K677N;ENSP00000378257:K642N;ENSP00000363405:K716N;ENSP00000322108:K716N	ENSP00000322108:K716N	K	-	3	2	C9orf84	113516621	0.997000	0.39634	0.608000	0.28969	0.963000	0.63663	0.301000	0.19174	-0.421000	0.07416	0.655000	0.94253	AAG		0.383	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		A	114476800	C	A	114476800	3	1	91	1	0	0	0	0	1	0	0	0	2500	796	28	3	2234	3	C9orf84	9	114476800	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	16236888	114476800	26736631	26	4699											
CCDC3	83643	genome.wustl.edu	37	10	12940645	12940645	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr10:12940645T>A	ENST00000378825.3	-	3	710	c.584A>T	c.(583-585)gAg>gTg	p.E195V	CCDC3_ENST00000378839.1_Missense_Mutation_p.E70V	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	195						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.E195V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GTCCTCCTCCTCAAACAAGGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	10											63	54	57					10																	12940645		2203	4300	6503	12980651	SO:0001583	missense	83643			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.584A>T	10.37:g.12940645T>A	ENSP00000368102:p.Glu195Val		12980651	Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	37	CCDS7093.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497907	0.85069	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	T	0.18657	2.2	5.42	5.42	0.78866	.	0.240857	0.40302	N	0.001135	T	0.46405	0.1391	M	0.69823	2.125	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	T	0.47873	-0.9083	10	0.87932	D	0	-21.4331	14.6402	0.68717	0.0:0.0:0.0:1.0	.	195	Q9BQI4	CCDC3_HUMAN	V	70;195	ENSP00000368116:E70V	ENSP00000368102:E195V	E	-	2	0	CCDC3	12980651	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.529000	0.81952	2.062000	0.61559	0.459000	0.35465	GAG		0.607	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		A	12940645	T	A	12940645	3	1	91	1	0	0	0	0	1	0	0	0	2804	1551	54	5	232	5	CCDC3	10	12940645	Missense_Mutation	SNP	T	TCGA-13-0807-01B-02W-0421-09		12940645	122594102	27	4700											
CYP2R1	120227	genome.wustl.edu	37	11	14902270	14902270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr11:14902270G>A	ENST00000334636.5	-	3	458	c.412C>T	c.(412-414)Cga>Tga	p.R138*	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	138					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.R138*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ACAGCTAATCGTCTGTGATCA	0.313																																					NSCLC(173;1584 2058 26117 29365 41534)											1	Substitution - Nonsense(1)	ovary(1)	11											37	38	38					11																	14902270		2197	4292	6489	14858846	SO:0001587	stop_gained	120227			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"Cytochrome P450s"	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.412C>T	11.37:g.14902270G>A	ENSP00000334592:p.Arg138*		14858846	Q2M3H3|Q5RT65	Nonsense_Mutation	SNP	ENST00000334636.5	37	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	G	38	7.030988	0.98013	.	.	ENSG00000186104	ENST00000334636	.	.	.	5.9	4.76	0.60689	.	0.180133	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3731	0.60723	0.0:0.0:0.1337:0.8663	.	.	.	.	X	138	.	ENSP00000334592:R138X	R	-	1	2	CYP2R1	14858846	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	6.303000	0.72794	1.048000	0.40298	-0.410000	0.06199	CGA		0.313	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		A	14902270	G	A	14902270	4	1	91	1	0	0	0	0	0	1	0	0	4173	1153	40	1	1105	1	CYP2R1	11	14902270	Nonsense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09		14902270	120104246	28	4701											
OR5D14	219436	genome.wustl.edu	37	11	55563272	55563272	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr11:55563272C>A	ENST00000335605.1	+	1	241	c.241C>A	c.(241-243)Ccc>Acc	p.P81T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P81T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CATTGTCACTCCCAAGCTGCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	11											181	158	166					11																	55563272		2200	4296	6496	55319848	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.241C>A	11.37:g.55563272C>A	ENSP00000334456:p.Pro81Thr		55319848	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	13.83	2.355042	0.41700	.	.	ENSG00000186113	ENST00000335605	T	0.01854	4.6	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000396	T	0.27832	0.0685	H	0.99475	4.585	0.41837	D	0.990105	D	0.67145	0.996	D	0.72625	0.978	T	0.59306	-0.7479	10	0.87932	D	0	-25.316	17.0729	0.86579	0.0:1.0:0.0:0.0	.	81	Q8NGL3	OR5DE_HUMAN	T	81	ENSP00000334456:P81T	ENSP00000334456:P81T	P	+	1	0	OR5D14	55319848	0.998000	0.40836	0.542000	0.28115	0.080000	0.17528	4.326000	0.59241	2.363000	0.80096	0.643000	0.83706	CCC		0.403	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		A	55563272	C	A	55563272	3	1	91	1	0	0	0	0	1	0	0	0	11155	855	30	3	243	3	OR5D14	11	55563272	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	40661002	55563272	79443244	29	4702											
FOLH1B	219595	genome.wustl.edu	37	11	89413790	89413790	+	RNA	SNP	G	G	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr11:89413790G>A	ENST00000532352.1	+	0	1275							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.L154L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACTACACTCTGAGAGTTGATT	0.299																																																1	Substitution - coding silent(1)	ovary(1)	11											38	38	38					11																	89413790		2201	4292	6493	89053438			219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89413790G>A			89053438		Silent	SNP	ENST00000532352.1	37																																																																																					0.299	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		A	89413790	G	A	89413790	1	1	91	0	1	0	0	0	0	0	0	0	5980	1277	45	2		2	FOLH1B	11	89413790	RNA	SNP	G	TCGA-13-0807-01B-02W-0421-09	33850518	89413790	45592726	30	4703											
OR10G7	390265	genome.wustl.edu	37	11	123909674	123909674	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr11:123909674A>T	ENST00000330487.5	-	1	43	c.35T>A	c.(34-36)cTc>cAc	p.L12H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L12H(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGGCCCGTGAGGATGAACGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	11											100	90	93					11																	123909674		2200	4299	6499	123414884	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.35T>A	11.37:g.123909674A>T	ENSP00000329689:p.Leu12His		123414884	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174487	0.57692	.	.	ENSG00000182634	ENST00000330487	T	0.00563	6.58	3.38	3.38	0.38709	.	0.000000	0.44097	D	0.000486	T	0.04092	0.0114	H	0.98936	4.375	0.33793	D	0.625666	D	0.64830	0.994	D	0.66602	0.945	T	0.04041	-1.0982	10	0.87932	D	0	.	10.492	0.44756	1.0:0.0:0.0:0.0	.	12	Q8NGN6	O10G7_HUMAN	H	12	ENSP00000329689:L12H	ENSP00000329689:L12H	L	-	2	0	OR10G7	123414884	1.000000	0.71417	0.791000	0.31998	0.054000	0.15201	8.055000	0.89453	1.538000	0.49270	0.455000	0.32223	CTC		0.542	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909674	A	T	123909674	3	4	91	1	0	0	0	0	1	0	0	0	10902	304	11	5	904	5	OR10G7	11	123909674	Missense_Mutation	SNP	A	TCGA-13-0807-01B-02W-0421-09	34495884	123909674	11096842	31	4704											
OR8B8	26493	genome.wustl.edu	37	11	124310489	124310489	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr11:124310489C>G	ENST00000328064.2	-	1	565	c.493G>C	c.(493-495)Ggt>Cgt	p.G165R		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	165					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G165R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGGTCACACCCATCATGCAC	0.517																																																1	Substitution - Missense(1)	ovary(1)	11											147	122	130					11																	124310489		2201	4299	6500	123815699	SO:0001583	missense	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.493G>C	11.37:g.124310489C>G	ENSP00000330280:p.Gly165Arg		123815699	A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.012414	0.00042	.	.	ENSG00000197125	ENST00000328064	T	0.00032	8.88	3.52	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.647619	0.14163	N	0.337224	T	0.00039	0.0001	N	0.00058	-2.35	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42865	-0.9426	10	0.02654	T	1	.	2.8541	0.05566	0.2795:0.1253:0.0:0.5952	.	165	Q15620	OR8B8_HUMAN	R	165	ENSP00000330280:G165R	ENSP00000330280:G165R	G	-	1	0	OR8B8	123815699	0.000000	0.05858	0.015000	0.15790	0.244000	0.25665	-1.110000	0.03306	0.725000	0.32318	-0.484000	0.04775	GGT		0.517	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		G	124310489	C	G	124310489	3	3	91	1	0	0	0	0	1	0	0	0	11230	623	22	3	445	3	OR8B8	11	124310489	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	400815	124310489	10696027	32	4705											
CDON	50937	genome.wustl.edu	37	11	125873858	125873858	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr11:125873858C>A	ENST00000392693.3	-	10	2092	c.1965G>T	c.(1963-1965)atG>atT	p.M655I	CDON_ENST00000531738.1_Missense_Mutation_p.M32I|CDON_ENST00000263577.7_Missense_Mutation_p.M655I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	655	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M655I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTCTTGCTACCATCAAGACTT	0.532																																																1	Substitution - Missense(1)	ovary(1)	11											94	80	85					11																	125873858		2201	4299	6500	125379068	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1965G>T	11.37:g.125873858C>A	ENSP00000376458:p.Met655Ile		125379068	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.940900|4.940900	0.92526|0.92526	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000534661|ENST00000392693;ENST00000531738;ENST00000263577	.|T;T;T	.|0.50548	.|0.74;3.87;0.74	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Fibronectin, type III (4);	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.65760|0.65760	0.2722|0.2722	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.76494	.|0.999;0.999;0.94	.|D;D;P	.|0.87578	.|0.998;0.997;0.833	T|T	0.65080|0.65080	-0.6255|-0.6255	5|10	.|0.72032	.|D	.|0.01	-31.8085|-31.8085	20.3409|20.3409	0.98764|0.98764	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|655;655;32	.|Q4KMG0;Q4KMG0-2;E9PN78	.|CDON_HUMAN;.;.	C|I	631|655;32;655	.|ENSP00000376458:M655I;ENSP00000432901:M32I;ENSP00000263577:M655I	.|ENSP00000263577:M655I	G|M	-|-	1|3	0|0	CDON|CDON	125379068|125379068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	7.440000|7.440000	0.80464|0.80464	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GGT|ATG		0.532	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		A	125873858	C	A	125873858	3	1	91	1	0	0	0	0	1	0	0	0	3170	594	21	3	1873	3	CDON	11	125873858	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	1563369	125873858	9132658	33	4706											
ATF7	11016	genome.wustl.edu	37	12	53931309	53931309	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr12:53931309G>C	ENST00000548446.2	-	5	437	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	ATF7_ENST00000328463.7_Missense_Mutation_p.L109V|ATF7_ENST00000456903.4_Missense_Mutation_p.L98V|ATF7_ENST00000420353.2_Missense_Mutation_p.L98V|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.L98V|ATF7_ENST00000415113.1_Missense_Mutation_p.L98V			P17544	ATF7_HUMAN	activating transcription factor 7	109	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L109V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GTGGAAGGCAGAGACATGTCA	0.473																																																1	Substitution - Missense(1)	ovary(1)	12											84	86	85					12																	53931309		1911	4133	6044	52217576	SO:0001583	missense	11016			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.325C>G	12.37:g.53931309G>C	ENSP00000449938:p.Leu109Val		52217576	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37		.	.	.	.	.	.	.	.	.	.	G	15.16	2.750493	0.49257	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.46451	0.9;0.9;0.89;0.87;0.87	4.99	4.07	0.47477	.	0.146323	0.47455	D	0.000230	T	0.29223	0.0727	L	0.40543	1.245	0.47737	D	0.999504	B;P;B	0.37955	0.206;0.612;0.215	B;B;B	0.32533	0.086;0.147;0.146	T	0.05402	-1.0887	10	0.15499	T	0.54	-26.2247	11.9464	0.52930	0.0896:0.0:0.9104:0.0	.	98;98;109	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	V	109;109;98;98;98;98	ENSP00000449938:L109V;ENSP00000329212:L109V;ENSP00000404880:L98V;ENSP00000399465:L98V;ENSP00000387406:L98V	ENSP00000304187:L98V	L	-	1	2	ATF7	52217576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.256000	0.51492	1.416000	0.47057	0.650000	0.86243	CTG		0.473	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		C	53931309	G	C	53931309	3	2	91	1	0	0	0	0	1	0	0	0	1086	933	33	3	1191	3	ATF7	12	53931309	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09		53931309	79920586	34	4707											
NBEA	26960	genome.wustl.edu	37	13	35735998	35735998	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr13:35735998C>T	ENST00000400445.3	+	23	4507	c.3973C>T	c.(3973-3975)Cgg>Tgg	p.R1325W	NBEA_ENST00000310336.4_Missense_Mutation_p.R1325W|NBEA_ENST00000540320.1_Missense_Mutation_p.R1325W|NBEA_ENST00000379939.2_Missense_Mutation_p.R1325W	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1325					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R1325W(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCCAGGTCCACGGACTACAAT	0.453																																																1	Substitution - Missense(1)	ovary(1)	13											98	96	97					13																	35735998		1956	4140	6096	34633998	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3973C>T	13.37:g.35735998C>T	ENSP00000383295:p.Arg1325Trp		34633998	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723729	0.68959	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.04	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69940	0.3167	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.973	T	0.74206	-0.3740	10	0.87932	D	0	.	14.8784	0.70513	0.1449:0.8551:0.0:0.0	.	1325;1325	Q8NFP9;Q5T321	NBEA_HUMAN;.	W	1325	ENSP00000440951:R1325W;ENSP00000383295:R1325W;ENSP00000369271:R1325W;ENSP00000308534:R1325W	ENSP00000308534:R1325W	R	+	1	2	NBEA	34633998	1.000000	0.71417	0.041000	0.18516	0.484000	0.33280	4.793000	0.62474	1.213000	0.43380	0.591000	0.81541	CGG		0.453	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	35735998	C	T	35735998	3	4	91	1	0	0	0	0	1	0	0	0	10187	527	19	1	4063	1	NBEA	13	35735998	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09		35735998	79433880	35	4708											
INTS6	26512	genome.wustl.edu	37	13	51943315	51943316	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	CC	CC	CC	TT	CC	CC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr13:51943315_51943316CC>TT	ENST00000311234.4	-	16	2707_2708	c.2235_2236GG>AA	c.(2233-2238)ctGGaa>ctAAaa	p.E746K	INTS6_ENST00000497989.1_Missense_Mutation_p.E568K|INTS6_ENST00000425000.1_Missense_Mutation_p.E314K|INTS6_ENST00000398119.2_Missense_Mutation_p.E733K|INTS6_ENST00000490542.1_Missense_Mutation_p.E430K|INTS6_ENST00000463928.1_3'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	746					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTTGGCCGTTCCAGTAAACTGG	0.421																																																0			13																																								50841317	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2235_2236delinsTT	13.37:g.51943315_51943316delinsTT	ENSP00000310260:p.Glu746Lys		50841316	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	DNP	ENST00000311234.4	37	CCDS9428.1																																																																																				0.421	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		TT	51943316	CC	TT	51943315	3	4	91	1	0	0	0	0	1	0	0	0	7782	864	30	2	439	2	INTS6	13	51943315	Missense_Mutation	DNP	CC	TCGA-13-0807-01B-02W-0421-09	16207317	51943315	63226563	36	4709											
CLDN10	9071	genome.wustl.edu	37	13	96086272	96086272	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr13:96086272G>T	ENST00000376873.3	+	1	415	c.185G>T	c.(184-186)cGa>cTa	p.R62L		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	64					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.R62L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTCCATTGCCGACCGCATTTT	0.488																																																1	Substitution - Missense(1)	ovary(1)	13											109	105	107					13																	96086272		2203	4300	6503	94884273	SO:0001583	missense	9071			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"Claudins"	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.185G>T	13.37:g.96086272G>T	ENSP00000366069:p.Arg62Leu		94884273	Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000376873.3	37	CCDS9475.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810408	0.90707	.	.	ENSG00000134873	ENST00000376873	D	0.88201	-2.35	5.24	5.24	0.73138	.	.	.	.	.	D	0.92479	0.7612	.	.	.	0.80722	D	1	P	0.51147	0.942	P	0.53593	0.73	D	0.93352	0.6719	8	0.87932	D	0	.	17.3606	0.87349	0.0:0.0:1.0:0.0	.	62	Q96N78	.	L	62	ENSP00000366069:R62L	ENSP00000366069:R62L	R	+	2	0	CLDN10	94884273	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	9.282000	0.95840	2.602000	0.87976	0.563000	0.77884	CGA		0.488	CLDN10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045483.3	NM_006984		T	96086272	G	T	96086272	3	4	91	1	0	0	0	0	1	0	0	0	3472	1058	37	3	187	3	CLDN10	13	96086272	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09	44142957	96086272	19083606	37	4710											
DHRS7	51635	genome.wustl.edu	37	14	60616107	60616107	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr14:60616107C>T	ENST00000216500.5	-	7	1391	c.936G>A	c.(934-936)atG>atA	p.M312I	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'Flank|DHRS7_ENST00000557185.1_Missense_Mutation_p.M312I|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.M262I			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	312						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.M312I(1)		endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TTTTCTTCCCCATCTTGTTGG	0.378																																																1	Substitution - Missense(1)	ovary(1)	14											134	135	135					14																	60616107		2203	4300	6503	59685860	SO:0001583	missense	51635			AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	21524	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 4", "short chain dehydrogenase/reductase family 34C, member 1"	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.936G>A	14.37:g.60616107C>T	ENSP00000216500:p.Met312Ile		59685860	B2R896|Q9UKU2	Nonsense_Mutation	SNP	ENST00000216500.5	37	CCDS9743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.53|11.53	1.667460|1.667460	0.29604|0.29604	.|.	.|.	ENSG00000100612|ENSG00000100612	ENST00000216500;ENST00000557185;ENST00000536410|ENST00000360557;ENST00000554101	T;T;T|.	0.49139|.	0.79;0.79;0.79|.	5.7|5.7	-7.7|-7.7	0.01259|0.01259	NAD(P)-binding domain (1);|.	.|1.175050	.|0.06117	.|N	.|0.668160	T|.	0.07638|.	0.0192|.	N|N	0.01874|0.01874	-0.695|-0.695	0.18873|0.18873	N|N	0.999985|0.999985	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.20107|.	-1.0285|.	9|.	0.22109|0.22109	T|T	0.4|0.4	.|.	0.9025|0.9025	0.01277|0.01277	0.3595:0.2711:0.181:0.1884|0.3595:0.2711:0.181:0.1884	.|.	312|.	Q9Y394|.	DHRS7_HUMAN|.	I|X	312;312;262|311;307	ENSP00000216500:M312I;ENSP00000451882:M312I;ENSP00000442993:M262I|.	ENSP00000216500:M312I|ENSP00000353759:W311X	M|W	-|-	3|2	0|0	DHRS7|DHRS7	59685860|59685860	0.024000|0.024000	0.19004|0.19004	0.001000|0.001000	0.08648|0.08648	0.884000|0.884000	0.51177|0.51177	-0.827000|-0.827000	0.04424|0.04424	-0.930000|-0.930000	0.03752|0.03752	-0.345000|-0.345000	0.07892|0.07892	ATG|TGG		0.378	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		T	60616107	C	T	60616107	3	4	91	1	0	0	0	0	1	0	0	0	4495	594	21	2	91	2	DHRS7	14	60616107	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09		60616107	46733433	38	4711											
DNAH3	55567	genome.wustl.edu	37	16	20944760	20944760	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr16:20944760C>G	ENST00000261383.3	-	62	12066	c.12067G>C	c.(12067-12069)Gaa>Caa	p.E4023Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4023					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E4023Q(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGGCACCTTCTAAGAAGAGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	16											112	112	112					16																	20944760		2201	4300	6501	20852261	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.12067G>C	16.37:g.20944760C>G	ENSP00000261383:p.Glu4023Gln		20852261	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992615	0.93167	.	.	ENSG00000158486	ENST00000261383	T	0.12879	2.64	5.24	5.24	0.73138	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60657	-0.7220	10	0.72032	D	0.01	.	18.8244	0.92111	0.0:1.0:0.0:0.0	.	4023	Q8TD57	DYH3_HUMAN	Q	4023	ENSP00000261383:E4023Q	ENSP00000261383:E4023Q	E	-	1	0	DNAH3	20852261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.629000	0.83207	2.451000	0.82905	0.563000	0.77884	GAA		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		G	20944760	C	G	20944760	3	3	91	1	0	0	0	0	1	0	0	0	4603	922	32	3	286	3	DNAH3	16	20944760	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09		20944760	69409993	39	4712											
GPS2	2874	genome.wustl.edu	37	17	7216433	7216433	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr17:7216433C>T	ENST00000380728.2	-	10	1115	c.815G>A	c.(814-816)cGc>cAc	p.R272H	GPS2_ENST00000391950.3_Missense_Mutation_p.R272H|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Missense_Mutation_p.R272H			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	272					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)	p.R272H(2)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTGCATGGGGCGCAGAGAGGA	0.572																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	17											64	73	70					17																	7216433		2203	4300	6503	7157157	SO:0001583	missense	2874			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.815G>A	17.37:g.7216433C>T	ENSP00000370104:p.Arg272His		7157157	B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140663	0.77775	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.55052	0.54;0.54	4.74	4.74	0.60224	.	0.066295	0.56097	U	0.000033	T	0.61311	0.2337	L	0.27053	0.805	0.54753	D	0.999985	D	0.76494	0.999	D	0.78314	0.991	T	0.66380	-0.5938	10	0.87932	D	0	-4.4764	16.6678	0.85257	0.0:1.0:0.0:0.0	.	272	Q13227	GPS2_HUMAN	H	272	ENSP00000370104:R272H;ENSP00000379841:R272H	ENSP00000319371:R272H	R	-	2	0	GPS2	7157157	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.250000	0.72435	2.459000	0.83118	0.655000	0.94253	CGC		0.572	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		T	7216433	C	T	7216433	3	4	91	1	0	0	0	0	1	0	0	0	6733	768	27	1	176	1	GPS2	17	7216433	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09		7216433	73978777	40	4713											
TP53	7157	genome.wustl.edu	37	17	7577112	7577112	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr17:7577112C>G	ENST00000269305.4	-	8	1015	c.826G>C	c.(826-828)Gcc>Ccc	p.A276P	TP53_ENST00000359597.4_Missense_Mutation_p.A276P|TP53_ENST00000455263.2_Missense_Mutation_p.A276P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.A276P|TP53_ENST00000445888.2_Missense_Mutation_p.A276P	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	276	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A276P(15)|p.A276S(9)|p.0?(8)|p.A276T(7)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.A276fs*70(1)|p.A276fs*31(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CCAGGACAGGCACAAACACGC	0.547		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"	56	Substitution - Missense(31)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(5)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(13)|bone(6)|upper_aerodigestive_tract(4)|biliary_tract(4)|large_intestine(4)|breast(4)|stomach(3)|central_nervous_system(3)|thymus(3)|urinary_tract(3)|ovary(2)|soft_tissue(1)|kidney(1)|endometrium(1)|oesophagus(1)|skin(1)|lung(1)|prostate(1)	17											72	62	65					17																	7577112		2203	4300	6503	7517837	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.826G>C	17.37:g.7577112C>G	ENSP00000269305:p.Ala276Pro		7517837	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925704	0.92319	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	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	0.99822	0.9921	M	0.77103	2.36	0.80722	D	1	P;D;P;P	0.89917	0.768;1.0;0.909;0.455	P;D;P;P	0.77557	0.498;0.99;0.631;0.5	D	0.96498	0.9369	10	0.87932	D	0	-17.5913	15.662	0.77193	0.0:1.0:0.0:0.0	.	276;276;276;276	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	276;276;276;276;276;265;144	ENSP00000352610:A276P;ENSP00000269305:A276P;ENSP00000398846:A276P;ENSP00000391127:A276P;ENSP00000391478:A276P;ENSP00000425104:A144P	ENSP00000269305:A276P	A	-	1	0	TP53	7517837	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	GCC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577112	C	G	7577112	3	3	91	1	0	0	0	0	1	0	0	0	16381	710	25	3	460	3	TP53	17	7577112	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	360679	7577112	73618098	41	4714											
MYH1	4619	genome.wustl.edu	37	17	10415500	10415500	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr17:10415500T>C	ENST00000226207.5	-	13	1251	c.1157A>G	c.(1156-1158)aAg>aGg	p.K386R	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	386	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K386R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATAGGCTGCCTTGTCAGCAAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	17											167	161	163					17																	10415500		2203	4300	6503	10356225	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1157A>G	17.37:g.10415500T>C	ENSP00000226207:p.Lys386Arg		10356225	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280519	0.80692	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87809	-2.3	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.45361	U	0.000378	D	0.93083	0.7798	M	0.79343	2.45	0.54753	D	0.999983	D	0.76494	0.999	D	0.79108	0.992	D	0.93046	0.6461	10	0.46703	T	0.11	.	15.8844	0.79232	0.0:0.0:0.0:1.0	.	386	P12882	MYH1_HUMAN	R	386	ENSP00000226207:K386R	ENSP00000226207:K386R	K	-	2	0	MYH1	10356225	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.908000	0.87438	2.218000	0.71995	0.533000	0.62120	AAG		0.433	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		C	10415500	T	C	10415500	3	2	91	1	0	0	0	0	1	0	0	0	10029	1609	56	4	4774	4	MYH1	17	10415500	Missense_Mutation	SNP	T	TCGA-13-0807-01B-02W-0421-09	2838388	10415500	70779710	42	4715											
SLFN12L	100506736	genome.wustl.edu	37	17	33806779	33806779	+	Silent	SNP	C	C	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr17:33806779C>T	ENST00000260908.7	-	2	567	c.450G>A	c.(448-450)acG>acA	p.T150T	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Silent_p.T179T|SLFN12L_ENST00000449046.1_Silent_p.T181T	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	150						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.T181T(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CTTTTGCAGACGTTACATCTC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	17											63	51	55					17																	33806779		692	1591	2283	30830892	SO:0001819	synonymous_variant	342615			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.450G>A	17.37:g.33806779C>T			30830892	F5H6G3	Silent	SNP	ENST00000260908.7	37	CCDS56026.1																																																																																				0.428	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		T	33806779	C	T	33806779	2	4	91	1	0	0	0	0	0	0	0	1	14738	523	19	1		1	SLFN12L	17	33806779	Silent	SNP	C	TCGA-13-0807-01B-02W-0421-09	23391279	33806779	47388431	43	4716											
SALL3	27164	genome.wustl.edu	37	18	76757179	76757179	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr18:76757179G>T	ENST00000537592.2	+	3	3760	c.3760G>T	c.(3760-3762)Ggc>Tgc	p.G1254C	SALL3_ENST00000575389.2_Missense_Mutation_p.G1182C|SALL3_ENST00000536229.3_Missense_Mutation_p.G1049C	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1254					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1254C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCCCCTCTGGGCAGCATGGC	0.627																																																1	Substitution - Missense(1)	ovary(1)	18											100	100	100					18																	76757179		2203	4300	6503	74858167	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3760G>T	18.37:g.76757179G>T	ENSP00000441823:p.Gly1254Cys		74858167	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	4.202	0.036295	0.08148	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.46451	0.87	5.32	4.25	0.50352	.	0.206709	0.33438	N	0.004920	T	0.54967	0.1891	M	0.67953	2.075	0.51233	D	0.999913	D;D	0.76494	0.997;0.999	P;P	0.60789	0.855;0.879	T	0.56486	-0.7971	10	0.56958	D	0.05	-43.4166	9.5978	0.39584	0.1621:0.0:0.8378:0.0	.	914;1254	F5GXY4;Q9BXA9	.;SALL3_HUMAN	C	1254;1182;914	ENSP00000441823:G1254C	ENSP00000299466:G1254C	G	+	1	0	SALL3	74858167	1.000000	0.71417	0.855000	0.33649	0.022000	0.10575	3.124000	0.50461	2.490000	0.84030	0.561000	0.74099	GGC		0.627	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		T	76757179	G	T	76757179	3	4	91	1	0	0	0	0	1	0	0	0	13815	1232	43	3	3770	3	SALL3	18	76757179	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09		76757179	1320069	44	4717											
NFATC1	4772	genome.wustl.edu	37	18	77227620	77227620	+	Intron	SNP	G	G	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr18:77227620G>A	ENST00000427363.2	+	8	2092				NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000592223.1_Silent_p.E697E|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000591814.1_Silent_p.E710E|NFATC1_ENST00000329101.4_Intron|NFATC1_ENST00000545796.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1						calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GTGAACATGAGCGCGTGGGGT	0.532																																					GBM(151;1210 2593 28719 45011)											0			18											83	70	74					18																	77227620		2202	4300	6502	75328608	SO:0001627	intron_variant	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2092+38G>A	18.37:g.77227620G>A			75328608	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37																																																																																					0.532	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		A	77227620	G	A	77227620	1	1	91	0	1	0	0	0	0	0	0	0	10361	962	34	2		2	NFATC1	18	77227620	Intron	SNP	G	TCGA-13-0807-01B-02W-0421-09	470441	77227620	849628	45	4718											
SH3GL1	6455	genome.wustl.edu	37	19	4362368	4362368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	A	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr19:4362368G>A	ENST00000269886.3	-	9	1046	c.868C>T	c.(868-870)Cga>Tga	p.R290*	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Nonsense_Mutation_p.R242*|SH3GL1_ENST00000598564.1_Nonsense_Mutation_p.R226*	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	290					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R290*(1)		NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCGGAAGATCGGAAAGACGAT	0.632			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	1	Substitution - Nonsense(1)	ovary(1)	19											73	73	73					19																	4362368		2203	4300	6503	4313368	SO:0001587	stop_gained	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.868C>T	19.37:g.4362368G>A	ENSP00000269886:p.Arg290*		4313368	B4DRA1|E7EVZ4|M0QZV5|Q99668	Nonsense_Mutation	SNP	ENST00000269886.3	37	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	37	6.301186	0.97453	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	.	.	.	4.81	3.73	0.42828	.	0.115700	0.36778	N	0.002406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-1.0338	11.1259	0.48317	0.0:0.0:0.8147:0.1853	.	.	.	.	X	290;242	.	ENSP00000269886:R290X	R	-	1	2	SH3GL1	4313368	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	3.090000	0.50191	0.948000	0.37687	0.561000	0.74099	CGA		0.632	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		A	4362368	G	A	4362368	4	1	91	1	0	0	0	0	0	1	0	0	14253	1124	39	1	246	1	SH3GL1	19	4362368	Nonsense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09		4362368	54766615	46	4719											
EMR3	84658	genome.wustl.edu	37	19	14765803	14765803	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr19:14765803C>T	ENST00000253673.5	-	6	668	c.568G>A	c.(568-570)Gat>Aat	p.D190N	EMR3_ENST00000599900.1_Intron|EMR3_ENST00000443157.2_Intron|EMR3_ENST00000344373.4_Missense_Mutation_p.D138N	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	190					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D190N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CCTACACTATCGTTTTGGATT	0.413																																																1	Substitution - Missense(1)	ovary(1)	19											140	128	132					19																	14765803		2202	4300	6502	14626803	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.568G>A	19.37:g.14765803C>T	ENSP00000253673:p.Asp190Asn		14626803		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	3.549	-0.092148	0.07053	.	.	ENSG00000131355	ENST00000253673;ENST00000344373	T;T	0.10192	2.9;2.9	3.65	0.363	0.16118	.	.	.	.	.	T	0.03136	0.0092	N	0.02011	-0.69	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.44967	-0.9293	9	0.21540	T	0.41	.	3.019	0.06069	0.0:0.249:0.2296:0.5215	.	138;190	Q9BY15-2;Q9BY15	.;EMR3_HUMAN	N	190;138	ENSP00000253673:D190N;ENSP00000340758:D138N	ENSP00000253673:D190N	D	-	1	0	EMR3	14626803	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.198000	0.17217	0.117000	0.18138	-0.238000	0.12139	GAT		0.413	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		T	14765803	C	T	14765803	3	4	91	1	0	0	0	0	1	0	0	0	5106	884	31	1	1434	1	EMR3	19	14765803	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	10403435	14765803	44363180	47	4720											
OR7C2	26658	genome.wustl.edu	37	19	15052973	15052973	+	Missense_Mutation	SNP	G	G	A	rs113508813	byFrequency	TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr19:15052973G>A	ENST00000248072.3	+	1	673	c.673G>A	c.(673-675)Gtc>Atc	p.V225I		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V225I(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TTTCTCCTCCGTCCTAAGAGT	0.473													.|||	4	0.000798722	0.0023	0	5008	,	,		20706	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19						G	ILE/VAL	15,4391	22.3+/-47.3	0,15,2188	176	163	168		673	2	0	19	dbSNP_132	168	0,8600		0,0,4300	yes	missense	OR7C2	NM_012377.1	29	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	benign	225/320	15052973	15,12991	2203	4300	6503	14913973	SO:0001583	missense	26658			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.673G>A	19.37:g.15052973G>A	ENSP00000248072:p.Val225Ile		14913973	O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.716668	0.00706	0.003404	0.0	ENSG00000127529	ENST00000248072	T	0.00224	8.51	4.19	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.163089	0.26859	N	0.022135	T	0.00073	0.0002	N	0.02765	-0.5	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.33675	-0.9859	10	0.02654	T	1	.	4.8872	0.13708	0.7419:0.0:0.0949:0.1631	.	225	O60412	OR7C2_HUMAN	I	225	ENSP00000248072:V225I	ENSP00000248072:V225I	V	+	1	0	OR7C2	14913973	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.250000	0.08830	0.238000	0.21222	-2.089000	0.00373	GTC		0.473	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			A	15052973	G	A	15052973	3	1	91	1	0	0	0	0	1	0	0	0	11218	1145	40	1	675	1	OR7C2	19	15052973	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09	287170	15052973	44076010	48	4721											
CIB3	117286	genome.wustl.edu	37	19	16275555	16275555	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr19:16275555C>T	ENST00000269878.4	-	5	565	c.516G>A	c.(514-516)atG>atA	p.M172I	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.M123I	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	172	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.M172I(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCCGGAGGATCATGTTCTGGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	19											123	111	115					19																	16275555		2203	4300	6503	16136555	SO:0001583	missense	117286			AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"EF-hand domain containing"	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.516G>A	19.37:g.16275555C>T	ENSP00000269878:p.Met172Ile		16136555	E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	ENST00000269878.4	37	CCDS12340.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404499	0.62288	.	.	ENSG00000141977	ENST00000269878;ENST00000379859	T;T	0.69685	-0.42;-0.42	4.78	4.78	0.61160	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	L	0.47078	1.49	0.80722	D	1	P;B	0.42871	0.792;0.242	B;B	0.43194	0.411;0.145	T	0.65734	-0.6096	10	0.38643	T	0.18	-46.1456	17.1514	0.86779	0.0:1.0:0.0:0.0	.	123;172	E7EUX1;Q96Q77	.;CIB3_HUMAN	I	172;123	ENSP00000269878:M172I;ENSP00000369188:M123I	ENSP00000269878:M172I	M	-	3	0	CIB3	16136555	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.750000	0.68712	2.385000	0.81259	0.462000	0.41574	ATG		0.572	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		T	16275555	C	T	16275555	3	4	91	1	0	0	0	0	1	0	0	0	3422	826	29	2	55	2	CIB3	19	16275555	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	1222582	16275555	42853428	49	4722											
ZNF737	100129842	genome.wustl.edu	37	19	20728279	20728279	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr19:20728279G>T	ENST00000427401.4	-	4	824	c.730C>A	c.(730-732)Ctt>Att	p.L244I		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L243I(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTGCAGTAAGGTATGAAAAC	0.413																																																1	Substitution - Missense(1)	ovary(1)	19											41	40	40					19																	20728279		692	1591	2283	20520119	SO:0001583	missense	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.730C>A	19.37:g.20728279G>T	ENSP00000395733:p.Leu244Ile		20520119	C9JHM3	RNA	SNP	ENST00000427401.4	37	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	10.75	1.437262	0.25900	.	.	ENSG00000237440	ENST00000427401	T	0.53857	0.6	0.801	0.801	0.18679	.	.	.	.	.	T	0.73353	0.3576	M	0.91972	3.26	0.09310	N	1	P	0.39809	0.689	P	0.60068	0.868	T	0.63233	-0.6683	9	0.72032	D	0.01	.	6.955	0.24565	0.0:0.0:1.0:0.0	.	244	C9JHM3	.	I	244	ENSP00000395733:L244I	ENSP00000395733:L244I	L	-	1	0	ZNF737	20520119	0.045000	0.20229	0.022000	0.16811	0.022000	0.10575	0.652000	0.24888	0.170000	0.19704	0.173000	0.16961	CTT		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		T	20728279	G	T	20728279	3	4	91	1	0	0	0	0	1	0	0	0	18126	1000	35	3	884	3	ZNF737	19	20728279	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09	4452724	20728279	38400704	50	4723											
UBA2	10054	genome.wustl.edu	37	19	34949673	34949673	+	Splice_Site	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr19:34949673G>T	ENST00000246548.4	+	13	1315		c.e13-1		UBA2_ENST00000592791.1_5'UTR|UBA2_ENST00000439527.2_Splice_Site	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2						cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.?(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTCCTCCAAAGATTTTTTTGA	0.388																																																1	Unknown(1)	ovary(1)	19											87	89	88					19																	34949673		2203	4300	6503	39641513	SO:0001630	splice_region_variant	10054			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1246-1G>T	19.37:g.34949673G>T			39641513	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Splice_Site	SNP	ENST00000246548.4	37	CCDS12439.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.460474|4.460474	0.84317|0.84317	.|.	.|.	ENSG00000126261|ENSG00000126261	ENST00000246548;ENST00000439527|ENST00000542624	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74520	.|0.3727	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72827	.|-0.4175	.|4	.|.	.|.	.|.	.|.	18.2814|18.2814	0.90099|0.90099	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|Y	-1|289	.|.	.|.	.|D	+|+	.|1	.|0	UBA2|UBA2	39641513|39641513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	9.333000|9.333000	0.96459|0.96459	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	.|GAT		0.388	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	Intron	T	34949673	G	T	34949673	5	4	91	1	0	0	0	0	0	0	1	0	16828	956	33	3	1295	3	UBA2	19	34949673	Splice_Site	SNP	G	TCGA-13-0807-01B-02W-0421-09	14221394	34949673	24179310	51	4724											
VN1R4	317703	genome.wustl.edu	37	19	53770598	53770598	+	Silent	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr19:53770598G>T	ENST00000311170.4	-	1	374	c.321C>A	c.(319-321)atC>atA	p.I107I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	107					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.I107I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGCTGACCGTGATCACCTGGA	0.507										HNSCC(26;0.072)																																						1	Substitution - coding silent(1)	ovary(1)	19											35	28	30					19																	53770598		2203	4300	6503	58462410	SO:0001819	synonymous_variant	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.321C>A	19.37:g.53770598G>T			58462410	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	CCDS33099.1																																																																																				0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		T	53770598	G	T	53770598	2	4	91	1	0	0	0	0	0	0	0	1	17180	1280	45	3		3	VN1R4	19	53770598	Silent	SNP	G	TCGA-13-0807-01B-02W-0421-09	18820925	53770598	5358385	52	4725											
VN1R4	317703	genome.wustl.edu	37	19	53770850	53770850	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr19:53770850G>C	ENST00000311170.4	-	1	122	c.69C>G	c.(67-69)ttC>ttG	p.F23L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	23					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.F23L(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GAAGAACAGAGAAGCTCCCCA	0.488										HNSCC(26;0.072)																																						1	Substitution - Missense(1)	ovary(1)	19											57	63	61					19																	53770850		2203	4300	6503	58462662	SO:0001583	missense	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.69C>G	19.37:g.53770850G>C	ENSP00000310856:p.Phe23Leu		58462662	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	G	7.983	0.751645	0.15778	.	.	ENSG00000228567	ENST00000311170	T	0.31510	1.49	2.28	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	1.476590	0.04844	N	0.440975	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.21151	0.033	T	0.23511	-1.0186	10	0.40728	T	0.16	.	4.5614	0.12161	0.2412:0.3446:0.4143:0.0	.	23	Q7Z5H5	VN1R4_HUMAN	L	23	ENSP00000310856:F23L	ENSP00000310856:F23L	F	-	3	2	VN1R4	58462662	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.267000	0.08619	-0.606000	0.05746	-0.281000	0.10026	TTC		0.488	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		C	53770850	G	C	53770850	3	2	91	1	0	0	0	0	1	0	0	0	17180	933	33	3	839	3	VN1R4	19	53770850	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09	252	53770850	5358133	53	4726											
UBASH3A	53347	genome.wustl.edu	37	21	43867232	43867232	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr21:43867232C>G	ENST00000319294.6	+	15	1945	c.1914C>G	c.(1912-1914)aaC>aaG	p.N638K	UBASH3A_ENST00000398367.1_3'UTR|UBASH3A_ENST00000291535.6_Missense_Mutation_p.N600K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	638	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.N638K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGTTGGTGAACCCACCGGTGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	21											140	145	144					21																	43867232		2203	4300	6503	42740301	SO:0001583	missense	53347			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1914C>G	21.37:g.43867232C>G	ENSP00000317327:p.Asn638Lys		42740301	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	7.678	0.688408	0.14973	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	T;T	0.07688	3.17;3.17	4.46	1.24	0.21308	.	0.913169	0.09331	N	0.816921	T	0.04861	0.0131	L	0.27053	0.805	0.38737	D	0.953792	P;P	0.39831	0.684;0.69	B;B	0.30943	0.122;0.057	T	0.49062	-0.8978	10	0.26408	T	0.33	-15.1292	6.6252	0.22826	0.0:0.5181:0.0:0.4819	.	600;638	P57075-2;P57075	.;UBS3A_HUMAN	K	600;638	ENSP00000291535:N600K;ENSP00000317327:N638K	ENSP00000291535:N600K	N	+	3	2	UBASH3A	42740301	0.951000	0.32395	0.072000	0.20136	0.308000	0.27856	0.455000	0.21843	0.374000	0.24650	0.563000	0.77884	AAC		0.478	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		G	43867232	C	G	43867232	3	3	91	1	0	0	0	0	1	0	0	0	16839	506	18	3	1972	3	UBASH3A	21	43867232	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09		43867232	4262663	54	4727											
SGSM3	27352	genome.wustl.edu	37	22	40802177	40802177	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chr22:40802177G>A	ENST00000248929.9	+	9	1099	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SGSM3_ENST00000454798.2_Missense_Mutation_p.E237K	NM_015705.4	NP_056520.2			small G protein signaling modulator 3									p.E304K(1)		cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GTTTTTCTACGAGGGCTCCCG	0.622																																																1	Substitution - Missense(1)	ovary(1)	22											84	73	77					22																	40802177		2203	4300	6503	39132123	SO:0001583	missense	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.910G>A	22.37:g.40802177G>A	ENSP00000248929:p.Glu304Lys		39132123		Missense_Mutation	SNP	ENST00000248929.9	37	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313007	0.81358	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.14391	2.51;2.51;2.51	5.25	4.17	0.49024	Rab-GAP/TBC domain (4);	0.107661	0.64402	D	0.000006	T	0.31071	0.0785	M	0.88450	2.955	0.51482	D	0.999927	P;P;P;P;P	0.49185	0.746;0.535;0.903;0.92;0.92	B;B;P;P;P	0.48189	0.183;0.228;0.559;0.57;0.57	T	0.37009	-0.9724	10	0.72032	D	0.01	.	14.8355	0.70180	0.0:0.3278:0.6722:0.0	.	241;237;304;304;304	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	K	237;304;247;237	ENSP00000399249:E237K;ENSP00000248929:E304K;ENSP00000390998:E237K	ENSP00000248929:E304K	E	+	1	0	SGSM3	39132123	0.984000	0.35163	1.000000	0.80357	0.787000	0.44495	2.012000	0.40932	2.636000	0.89361	0.313000	0.20887	GAG		0.622	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		A	40802177	G	A	40802177	3	1	91	1	0	0	0	0	1	0	0	0	14227	1059	37	1	940	1	SGSM3	22	40802177	Missense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09		40802177	10502389	55	4728											
PHEX	5251	genome.wustl.edu	37	X	22115157	22115157	+	Splice_Site	SNP	G	G	T			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chrX:22115157G>T	ENST00000379374.4	+	8	1498		c.e8+1		PHEX_ENST00000418858.3_5'Flank|PHEX_ENST00000535894.1_Splice_Site|PHEX_ENST00000475778.1_Splice_Site|PHEX_ENST00000537599.1_Splice_Site	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked						bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GATTCCCCAGGTTGGTGAAAA	0.378																																																2	Unknown(2)	ovary(1)|lung(1)	X	GRCh37	CS971857	PHEX	S							124	105	111					X																	22115157		2203	4300	6503	22025078	SO:0001630	splice_region_variant	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.933+1G>T	X.37:g.22115157G>T			22025078	O00678|Q13646|Q2M325|Q93032|Q99827	Splice_Site	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758454	0.69763	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0784	0.89435	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHEX	22025078	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	7.201000	0.77847	2.293000	0.77203	0.436000	0.28706	.		0.378	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	Intron	T	22115157	G	T	22115157	5	4	91	1	0	0	0	0	0	0	1	0	11819	1275	44	3	964	3	PHEX	23	22115157	Splice_Site	SNP	G	TCGA-13-0807-01B-02W-0421-09		22115157	133155403	56	4729											
FAM47B	170062	genome.wustl.edu	37	X	34962306	34962306	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chrX:34962306C>G	ENST00000329357.5	+	1	1394	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	453								p.S453C(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						GTTTCTGACTCTCTTCAACGT	0.483																																																1	Substitution - Missense(1)	ovary(1)	X											123	110	114					X																	34962306		2202	4300	6502	34872227	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.1358C>G	X.37:g.34962306C>G	ENSP00000328307:p.Ser453Cys		34872227	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	c	6.320	0.427211	0.11987	.	.	ENSG00000189132	ENST00000329357	T	0.16457	2.34	0.789	-1.58	0.08479	.	.	.	.	.	T	0.31670	0.0804	M	0.78049	2.395	0.09310	N	1	D	0.76494	0.999	D	0.67382	0.951	T	0.29671	-1.0004	8	0.62326	D	0.03	.	.	.	.	.	453	Q8NA70	FA47B_HUMAN	C	453	ENSP00000328307:S453C	ENSP00000328307:S453C	S	+	2	0	FAM47B	34872227	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-3.031000	0.00637	-1.926000	0.01061	-2.044000	0.00415	TCT		0.483	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		G	34962306	C	G	34962306	3	3	91	1	0	0	0	0	1	0	0	0	5570	913	32	3	1360	3	FAM47B	23	34962306	Missense_Mutation	SNP	C	TCGA-13-0807-01B-02W-0421-09	12847149	34962306	120308254	57	4730											
AKAP4	8852	genome.wustl.edu	37	X	49958492	49958492	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chrX:49958492T>G	ENST00000376056.2	-	5	995	c.845A>C	c.(844-846)gAg>gCg	p.E282A	AKAP4_ENST00000376064.3_Missense_Mutation_p.E282A|AKAP4_ENST00000358526.2_Missense_Mutation_p.E291A|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4									p.E291A(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTGGACTCCTCTCCAGTGCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	X											58	52	54					X																	49958492		2203	4300	6503	49845232	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.845A>C	X.37:g.49958492T>G	ENSP00000365224:p.Glu282Ala		49845232		Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	2.007	-0.427964	0.04701	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.08193	3.12;3.12;3.12	4.88	3.56	0.40772	A-kinase anchor 110kDa, C-terminal (1);	0.309766	0.22625	N	0.057651	T	0.07143	0.0181	L	0.46157	1.445	0.21064	N	0.999794	P	0.38300	0.626	B	0.34489	0.184	T	0.27123	-1.0083	9	.	.	.	-19.366	7.3446	0.26656	0.2144:0.0:0.0:0.7856	.	291	Q5JQC9	AKAP4_HUMAN	A	282;291;282	ENSP00000365224:E282A;ENSP00000351327:E291A;ENSP00000365232:E282A	.	E	-	2	0	AKAP4	49845232	0.040000	0.19996	0.034000	0.17996	0.056000	0.15407	2.937000	0.48979	1.596000	0.50062	0.229000	0.17801	GAG		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		G	49958492	T	G	49958492	3	3	91	1	0	0	0	0	1	0	0	0	453	1551	54	5	1700	5	AKAP4	23	49958492	Missense_Mutation	SNP	T	TCGA-13-0807-01B-02W-0421-09	14996186	49958492	105312068	58	4731											
BRWD3	254065	genome.wustl.edu	37	X	79936995	79936995	+	Nonsense_Mutation	SNP	G	G	C			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chrX:79936995G>C	ENST00000373275.4	-	40	4715	c.4499C>G	c.(4498-4500)tCa>tGa	p.S1500*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1500					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.S1500*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGCAGCATCTGAAACTTACAT	0.348																																																1	Substitution - Nonsense(1)	ovary(1)	X											54	49	51					X																	79936995		2203	4300	6503	79823651	SO:0001587	stop_gained	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4499C>G	X.37:g.79936995G>C	ENSP00000362372:p.Ser1500*		79823651	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	45	11.357013	0.99551	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.3	4.3	0.51218	.	0.375142	0.24659	N	0.036651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.95	14.4228	0.67196	0.0:0.0:1.0:0.0	.	.	.	.	X	1500	.	.	S	-	2	0	BRWD3	79823651	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.056000	0.71111	2.095000	0.63458	0.415000	0.27848	TCA		0.348	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		C	79936995	G	C	79936995	4	2	91	1	0	0	0	0	0	1	0	0	1526	1294	45	3	917	3	BRWD3	23	79936995	Nonsense_Mutation	SNP	G	TCGA-13-0807-01B-02W-0421-09	29978503	79936995	75333565	59	4732											
LRCH2	57631	genome.wustl.edu	37	X	114347848	114347848	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0807-01B-02W-0421-09	TCGA-13-0807-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f80466d9-6cc8-461b-acc2-addee22bd42a	aff5a575-f981-4ca6-b20a-355dab7dcf8a	g.chrX:114347848T>A	ENST00000317135.8	-	21	2259	c.2229A>T	c.(2227-2229)aaA>aaT	p.K743N	LRCH2_ENST00000538422.1_Missense_Mutation_p.K726N	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	743	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.							p.K743N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TGACACCAACTTTCACAAGTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	X											63	57	59					X																	114347848		1839	4075	5914	114254104	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2229A>T	X.37:g.114347848T>A	ENSP00000325091:p.Lys743Asn		114254104	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967075	0.53507	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.94613	-3.47;-3.47	5.15	5.15	0.70609	Calponin homology domain (5);	.	.	.	.	D	0.95579	0.8563	L	0.53780	1.695	0.48452	D	0.999656	D;P	0.76494	0.999;0.533	D;B	0.85130	0.997;0.293	D	0.95149	0.8271	9	0.62326	D	0.03	-10.6341	8.3158	0.32100	0.0:0.0951:0.0:0.9049	.	743;726	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	N	743;222;726	ENSP00000325091:K743N;ENSP00000439366:K726N	ENSP00000325091:K743N	K	-	3	2	LRCH2	114254104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.849000	0.48286	1.703000	0.51240	0.430000	0.28490	AAA		0.343	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		A	114347848	T	A	114347848	3	1	91	1	0	0	0	0	1	0	0	0	8933	1606	56	5	72	5	LRCH2	23	114347848	Missense_Mutation	SNP	T	TCGA-13-0807-01B-02W-0421-09	34410853	114347848	40922712	60	4733											
SEPN1	57190	broad.mit.edu	37	1	26127534	26127534	+	Splice_Site	SNP	G	G	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:26127534G>T	ENST00000374315.1	+	2	222	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	SEPN1_ENST00000361547.2_Splice_Site_p.E62*|SEPN1_ENST00000354177.4_Splice_Site_p.E62*	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	62						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.E62*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAAGCAGGAACTGGCGCT	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	1											73	79	77					1																	26127534		1946	4147	6093	26000121	SO:0001630	splice_region_variant	57190			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.184-1G>T	1.37:g.26127534G>T			26000121	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Nonsense_Mutation	SNP	ENST00000374315.1	37	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	36	5.701070	0.96812	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	.	.	.	4.74	3.82	0.43975	.	0.165679	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9687	12.4988	0.55944	0.0815:0.0:0.9185:0.0	.	.	.	.	X	62	.	.	E	+	1	0	SEPN1	26000121	1.000000	0.71417	0.942000	0.38095	0.098000	0.18820	7.471000	0.80985	0.993000	0.38866	0.561000	0.74099	GAA		0.582	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451	Nonsense_Mutation	T	26127534	G	T	26127534	5	4	92	1	0	0	0	0	0	0	1	0	14059	1188	41	3	190	3	SEPN1	1	26127534	Splice_Site	SNP	G	TCGA-13-0883-01A-02W-0420-08		26127534	223123087	1	4734											
ATXN7L2	127002	broad.mit.edu	37	1	110029637	110029637	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:110029637C>T	ENST00000369870.3	+	4	322	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	103								p.H103Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGAAAGAAGACATGGGCCCCT	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											28	34	32					1																	110029637		2203	4299	6502	109831160	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.307C>T	1.37:g.110029637C>T	ENSP00000358886:p.His103Tyr		109831160		Missense_Mutation	SNP	ENST00000369870.3	37	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919489	0.73098	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.32515	1.45	4.57	4.57	0.56435	.	0.000000	0.49305	D	0.000142	T	0.38427	0.1040	L	0.59436	1.845	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.25398	-1.0133	10	0.66056	D	0.02	-5.4602	14.2772	0.66187	0.0:1.0:0.0:0.0	.	103	Q5T6C5	AT7L2_HUMAN	Y	103	ENSP00000358886:H103Y	ENSP00000358886:H103Y	H	+	1	0	ATXN7L2	109831160	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.213000	0.65230	2.090000	0.63153	0.591000	0.81541	CAT		0.547	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		T	110029637	C	T	110029637	3	4	92	1	0	0	0	0	1	0	0	0	1217	478	17	2	321	2	ATXN7L2	1	110029637	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	83902103	110029637	139220984	2	4735											
ANKRD35	148741	broad.mit.edu	37	1	145563052	145563052	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:145563052G>A	ENST00000355594.4	+	10	2827	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	914								p.E914K(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTGCTGAAAGAGAAGATGGA	0.602																																					Melanoma(9;127 754 22988 51047)											1	Substitution - Missense(1)	ovary(1)	1											31	34	33					1																	145563052		2202	4298	6500	144274409	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2740G>A	1.37:g.145563052G>A	ENSP00000347802:p.Glu914Lys		144274409	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774519	0.70107	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.70282	-0.47	5.49	5.49	0.81192	.	0.381286	0.22380	N	0.060822	T	0.52208	0.1720	L	0.55103	1.725	0.80722	D	1	P	0.39665	0.682	B	0.32980	0.156	T	0.56171	-0.8023	10	0.33940	T	0.23	-6.5632	14.7509	0.69525	0.0:0.0:1.0:0.0	.	914	Q8N283	ANR35_HUMAN	K	823;914	ENSP00000347802:E914K	ENSP00000347802:E914K	E	+	1	0	ANKRD35	144274409	0.990000	0.36364	0.067000	0.19924	0.865000	0.49528	2.147000	0.42226	2.857000	0.98124	0.650000	0.86243	GAG		0.602	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145563052	G	A	145563052	3	1	92	1	0	0	0	0	1	0	0	0	664	943	33	2	2778	2	ANKRD35	1	145563052	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	35533415	145563052	103687569	3	4736											
S100A6	6277	broad.mit.edu	37	1	153507756	153507756	+	Silent	SNP	G	G	T	rs139774183	byFrequency	TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:153507756G>T	ENST00000368720.2	-	3	362	c.60C>A	c.(58-60)tcC>tcA	p.S20S	S100A6_ENST00000368719.4_Silent_p.S20S|BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000496817.1_Silent_p.S20S			P06703	S10A6_HUMAN	S100 calcium binding protein A6	20	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axonogenesis (GO:0007409)|positive regulation of fibroblast proliferation (GO:0048146)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|ion transmembrane transporter activity (GO:0015075)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)|tropomyosin binding (GO:0005523)|zinc ion binding (GO:0008270)	p.S20S(1)		ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCCTGCCGGAGTACTTGT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	1											111	107	108					1																	153507756		2203	4300	6503	151774380	SO:0001819	synonymous_variant	6277			BC001431	CCDS1040.1	1q21	2013-01-10	2006-09-11		ENSG00000197956	ENSG00000197956		"S100 calcium binding proteins", "EF-hand domain containing"	10496	protein-coding gene	gene with protein product		114110	"S100 calcium-binding protein A6 (calcyclin)", "S100 calcium binding protein A6 (calcyclin)"	CACY			Standard	NM_014624		Approved	2A9, PRA, CABP	uc001fbw.1	P06703	OTTHUMG00000013549	ENST00000368720.2:c.60C>A	1.37:g.153507756G>T			151774380	D3DV39|Q5RHS4	Silent	SNP	ENST00000368720.2	37	CCDS1040.1																																																																																				0.622	S100A6-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037723.2	NM_014624		T	153507756	G	T	153507756	2	4	92	1	0	0	0	0	0	0	0	1	13785	1103	39	3		3	S100A6	1	153507756	Silent	SNP	G	TCGA-13-0883-01A-02W-0420-08	7944704	153507756	95742865	4	4737											
RHBG	57127	broad.mit.edu	37	1	156351673	156351673	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:156351673G>T	ENST00000368249.1	+	6	955	c.917G>T	c.(916-918)gGg>gTg	p.G306V	RHBG_ENST00000451864.2_Intron|RHBG_ENST00000400992.2_Missense_Mutation_p.G274V|RHBG_ENST00000368246.2_Missense_Mutation_p.G306V|RHBG_ENST00000537040.1_Missense_Mutation_p.G144V|RHBG_ENST00000255013.3_Missense_Mutation_p.G237V	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	306					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.G306V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACACCCTTTGGGGCTCTGGCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											111	120	117					1																	156351673		2042	4193	6235	154618297	SO:0001583	missense	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.917G>T	1.37:g.156351673G>T	ENSP00000357232:p.Gly306Val		154618297	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		.	.	.	.	.	.	.	.	.	.	G	24.3	4.520764	0.85495	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000537040;ENST00000400992;ENST00000255013	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	4.44	4.44	0.53790	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.991	D;D;D;P	0.97110	1.0;1.0;1.0;0.889	T	0.50440	-0.8828	10	0.66056	D	0.02	-11.948	14.5902	0.68359	0.0:0.0:1.0:0.0	.	306;144;274;343	Q9H310;F5GWZ4;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.;.	V	306;306;144;274;237	ENSP00000357232:G306V;ENSP00000357229:G306V;ENSP00000441197:G144V;ENSP00000383777:G274V;ENSP00000255013:G237V	ENSP00000255013:G237V	G	+	2	0	RHBG	154618297	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.418000	0.80167	2.286000	0.76751	0.561000	0.74099	GGG		0.562	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		T	156351673	G	T	156351673	3	4	92	1	0	0	0	0	1	0	0	0	13327	1232	43	3	939	3	RHBG	1	156351673	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	2843917	156351673	92898948	5	4738											
NES	10763	broad.mit.edu	37	1	156645082	156645082	+	Silent	SNP	G	G	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:156645082G>T	ENST00000368223.3	-	2	966	c.834C>A	c.(832-834)atC>atA	p.I278I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	278	Coil 2B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.I278I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGACCTGAGCGATCTGGCTCT	0.652																																																1	Substitution - coding silent(1)	ovary(1)	1											87	77	80					1																	156645082		2203	4300	6503	154911706	SO:0001819	synonymous_variant	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.834C>A	1.37:g.156645082G>T			154911706	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1																																																																																				0.652	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		T	156645082	G	T	156645082	2	4	92	1	0	0	0	0	0	0	0	1	10337	1048	37	3		3	NES	1	156645082	Silent	SNP	G	TCGA-13-0883-01A-02W-0420-08	293409	156645082	92605539	6	4739											
INSRR	3645	broad.mit.edu	37	1	156823591	156823591	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:156823591C>A	ENST00000368195.3	-	2	986	c.590G>T	c.(589-591)aGc>aTc	p.S197I	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	197					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S197I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTGTGCCCGCTGAAGGTGGT	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											67	59	62					1																	156823591		2203	4300	6503	155090215	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.590G>T	1.37:g.156823591C>A	ENSP00000357178:p.Ser197Ile		155090215	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570848	0.45798	.	.	ENSG00000027644	ENST00000368195	T	0.30981	1.51	5.3	-0.00137	0.14035	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.800270	0.11141	N	0.595257	T	0.10380	0.0254	.	.	.	0.26171	N	0.979867	B	0.33826	0.427	B	0.37198	0.243	T	0.29243	-1.0018	9	0.87932	D	0	.	4.5911	0.12307	0.0:0.4285:0.1604:0.4111	.	197	P14616	INSRR_HUMAN	I	197	ENSP00000357178:S197I	ENSP00000357178:S197I	S	-	2	0	INSRR	155090215	0.830000	0.29337	0.181000	0.23098	0.956000	0.61745	1.384000	0.34396	0.204000	0.20548	0.557000	0.71058	AGC		0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		A	156823591	C	A	156823591	3	1	92	1	0	0	0	0	1	0	0	0	7774	797	28	3	3386	3	INSRR	1	156823591	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	178509	156823591	92427030	7	4740											
RABGAP1L	9910	broad.mit.edu	37	1	174190127	174190127	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:174190127T>G	ENST00000367689.3	+	0	326				RABGAP1L_ENST00000251507.4_Missense_Mutation_p.D52E|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D15E			B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like									p.D52E(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTAATGGTGATGAACAATTGG	0.358																																																1	Substitution - Missense(1)	ovary(1)	1											114	117	116					1																	174190127		2203	4300	6503	172456750			9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000367689.3:c.-904T>G	1.37:g.174190127T>G			172456750	B7ZAA4	Missense_Mutation	SNP	ENST00000367689.3	37		.	.	.	.	.	.	.	.	.	.	T	24.3	4.518989	0.85495	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.44881	0.91;3.54;0.95	5.6	5.6	0.85130	.	0.097634	0.64402	D	0.000001	T	0.37376	0.1001	L	0.27053	0.805	0.80722	D	1	P;B;P	0.49862	0.929;0.227;0.89	P;B;P	0.45881	0.48;0.138;0.496	T	0.30707	-0.9969	10	0.72032	D	0.01	.	14.0039	0.64451	0.0:0.0:0.0:1.0	.	52;52;15	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	E	15;52;52;52	ENSP00000350027:D15E;ENSP00000251507:D52E;ENSP00000403136:D52E	ENSP00000251507:D52E	D	+	3	2	RABGAP1L	172456750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.540000	0.60664	2.139000	0.66308	0.482000	0.46254	GAT		0.358	RABGAP1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001243765		G	174190127	T	G	174190127	1	3	92	1	0	1	0	0	0	0	0	0	12968	1461	51	5		5	RABGAP1L	1	174190127	De_novo_Start_OutOfFrame	SNP	T	TCGA-13-0883-01A-02W-0420-08	17366536	174190127	75060494	8	4741											
CENPF	1063	broad.mit.edu	37	1	214813302	214813302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:214813302C>T	ENST00000366955.3	+	12	1789	c.1621C>T	c.(1621-1623)Caa>Taa	p.Q541*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q541*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAGATCTTCAAGAAAAAAT	0.333																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Nonsense(1)	ovary(1)	1											79	92	88					1																	214813302		2199	4299	6498	212879925	SO:0001587	stop_gained	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1621C>T	1.37:g.214813302C>T	ENSP00000355922:p.Gln541*		212879925	Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836579	0.91117	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.17	3.23	0.37069	.	0.470539	0.15821	N	0.243000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	10.2351	0.43277	0.0:0.4256:0.4966:0.0778	.	.	.	.	X	541	.	ENSP00000355922:Q541X	Q	+	1	0	CENPF	212879925	0.774000	0.28592	0.999000	0.59377	0.213000	0.24496	0.406000	0.21032	0.632000	0.30432	-0.282000	0.10007	CAA		0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214813302	C	T	214813302	4	4	92	1	0	0	0	0	0	1	0	0	3231	827	29	2	1663	2	CENPF	1	214813302	Nonsense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	40623175	214813302	34437319	9	4742											
OR2M2	391194	broad.mit.edu	37	1	248343349	248343349	+	Missense_Mutation	SNP	G	G	A	rs34678055		TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr1:248343349G>A	ENST00000359682.2	+	1	62	c.62G>A	c.(61-63)aGc>aAc	p.S21N		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S21N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCAATCACAGCCCACCACAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											241	235	237					1																	248343349		2203	4300	6503	246409972	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.62G>A	1.37:g.248343349G>A	ENSP00000352710:p.Ser21Asn		246409972	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	10.31	1.315675	0.23908	.	.	ENSG00000198601	ENST00000359682	T	0.03035	4.07	0.855	0.855	0.19013	.	0.215514	0.22966	U	0.053495	T	0.04092	0.0114	L	0.56124	1.755	0.09310	N	1	B	0.20368	0.044	B	0.22386	0.039	T	0.31998	-0.9923	10	0.46703	T	0.11	.	5.4754	0.16692	0.1934:0.0:0.8066:0.0	.	21	Q96R28	OR2M2_HUMAN	N	21	ENSP00000352710:S21N	ENSP00000352710:S21N	S	+	2	0	OR2M2	246409972	0.000000	0.05858	0.030000	0.17652	0.230000	0.25150	-2.680000	0.00837	0.780000	0.33566	0.298000	0.19748	AGC		0.473	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		A	248343349	G	A	248343349	3	1	92	1	0	0	0	0	1	0	0	0	11010	971	34	2	64	2	OR2M2	1	248343349	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	33530047	248343349	907272	10	4743											
BIRC6	57448	broad.mit.edu	37	2	32617172	32617172	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr2:32617172G>C	ENST00000421745.2	+	5	1039	c.905G>C	c.(904-906)aGg>aCg	p.R302T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	302					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.R274T(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTAGGCTATAGGTGGGCACAA	0.383																																					Pancreas(94;175 1509 16028 18060 45422)											1	Substitution - Missense(1)	ovary(1)	2											60	56	57					2																	32617172		2203	4299	6502	32470676	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.905G>C	2.37:g.32617172G>C	ENSP00000393596:p.Arg302Thr		32470676	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273060	0.59649	.	.	ENSG00000115760	ENST00000421745	T	0.72051	-0.62	5.79	5.79	0.91817	Baculoviral inhibition of apoptosis protein repeat (4);	0.161699	0.53938	D	0.000056	T	0.62258	0.2413	N	0.25201	0.72	0.45087	D	0.998104	B	0.30542	0.284	B	0.39299	0.296	T	0.64313	-0.6437	10	0.72032	D	0.01	.	10.4276	0.44387	0.1444:0.0:0.8556:0.0	.	302	Q9NR09	BIRC6_HUMAN	T	302	ENSP00000393596:R302T	ENSP00000393596:R302T	R	+	2	0	BIRC6	32470676	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.682000	0.74528	2.718000	0.92993	0.655000	0.94253	AGG		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32617172	G	C	32617172	3	2	92	1	0	0	0	0	1	0	0	0	1438	1000	35	3	923	3	BIRC6	2	32617172	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08		32617172	210582201	11	4744											
USP34	9736	broad.mit.edu	37	2	61607472	61607472	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr2:61607472C>G	ENST00000398571.2	-	7	922	c.846G>C	c.(844-846)caG>caC	p.Q282H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	282					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q282H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTCGTAACTCCTGATCCGAGA	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											101	87	92					2																	61607472		1883	4114	5997	61460976	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.846G>C	2.37:g.61607472C>G	ENSP00000381577:p.Gln282His		61460976	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561292	0.45590	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03745	3.82	5.2	2.44	0.29823	.	0.167755	0.53938	D	0.000042	T	0.09730	0.0239	L	0.39898	1.24	0.51767	D	0.999935	D	0.57571	0.98	D	0.66979	0.948	T	0.01839	-1.1263	10	0.72032	D	0.01	.	10.5292	0.44967	0.0:0.7899:0.0:0.2101	.	282	Q70CQ2	UBP34_HUMAN	H	130;130;282	ENSP00000381577:Q282H	ENSP00000263989:Q130H	Q	-	3	2	USP34	61460976	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	1.608000	0.36847	0.310000	0.22990	0.557000	0.71058	CAG		0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			G	61607472	C	G	61607472	3	3	92	1	0	0	0	0	1	0	0	0	17065	680	24	3	10090	3	USP34	2	61607472	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	28990300	61607472	181591901	12	4745											
SPRED2	200734	broad.mit.edu	37	2	65572001	65572001	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr2:65572001A>T	ENST00000356388.4	-	2	245	c.56T>A	c.(55-57)gTg>gAg	p.V19E	SPRED2_ENST00000443619.2_Missense_Mutation_p.V16E|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	19	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.V19E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGTCATAACCACAGCCTTGAC	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											76	61	66					2																	65572001		2203	4300	6503	65425505	SO:0001583	missense	200734			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.56T>A	2.37:g.65572001A>T	ENSP00000348753:p.Val19Glu		65425505	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865079	0.91511	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000440972	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	4.98	4.98	0.66077	EVH1 (2);Pleckstrin homology-type (1);	0.060001	0.64402	D	0.000004	D	0.98871	0.9618	M	0.83852	2.665	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.989	D	0.99802	1.1036	10	0.72032	D	0.01	-16.7306	14.6627	0.68885	1.0:0.0:0.0:0.0	.	16;19	E9PEP0;Q7Z698	.;SPRE2_HUMAN	E	19;16;34;19	ENSP00000348753:V19E;ENSP00000393697:V16E;ENSP00000390595:V34E;ENSP00000406481:V19E	ENSP00000348753:V19E	V	-	2	0	SPRED2	65425505	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	1.849000	0.53698	0.254000	0.18369	GTG		0.522	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			T	65572001	A	T	65572001	3	4	92	1	0	0	0	0	1	0	0	0	15095	159	6	5	1220	5	SPRED2	2	65572001	Missense_Mutation	SNP	A	TCGA-13-0883-01A-02W-0420-08	3964529	65572001	177627372	13	4746											
ELMOD3	84173	broad.mit.edu	37	2	85598611	85598611	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr2:85598611T>A	ENST00000409890.2	+	10	1200	c.533T>A	c.(532-534)aTc>aAc	p.I178N	RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000409344.3_Missense_Mutation_p.I178N|ELMOD3_ENST00000409013.3_Missense_Mutation_p.I178N|ELMOD3_ENST00000315658.7_Missense_Mutation_p.I178N|RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000428955.2_Missense_Mutation_p.I178N|ELMOD3_ENST00000393852.4_Missense_Mutation_p.I178N			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	178	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I178N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CTCCAGACCATCTATAAGAAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											93	91	92					2																	85598611		2203	4300	6503	85452122	SO:0001583	missense	84173			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.533T>A	2.37:g.85598611T>A	ENSP00000386304:p.Ile178Asn		85452122	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.005123	0.93287	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	6.17	6.17	0.99709	Engulfment/cell motility, ELMO (2);	0.210963	0.46442	D	0.000291	T	0.63082	0.2481	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.67522	-0.5649	10	0.87932	D	0	-29.3231	14.7743	0.69713	0.0:0.0:0.0:1.0	.	178;178	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	N	178	ENSP00000386257:I178N;ENSP00000387139:I178N;ENSP00000386304:I178N;ENSP00000386248:I178N;ENSP00000377434:I178N;ENSP00000412692:I178N;ENSP00000318264:I178N	ENSP00000318264:I178N	I	+	2	0	ELMOD3	85452122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.246000	0.78247	2.371000	0.80710	0.533000	0.62120	ATC		0.562	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		A	85598611	T	A	85598611	3	1	92	1	0	0	0	0	1	0	0	0	5070	1435	50	5	559	5	ELMOD3	2	85598611	Missense_Mutation	SNP	T	TCGA-13-0883-01A-02W-0420-08	20026610	85598611	157600762	14	4747											
POTEF	728378	broad.mit.edu	37	2	130877789	130877789	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr2:130877789C>A	ENST00000409914.2	-	3	699	c.300G>T	c.(298-300)aaG>aaT	p.K100N	POTEF_ENST00000360967.5_Missense_Mutation_p.K100N|POTEF_ENST00000357462.5_Missense_Mutation_p.K100N|POTEF_ENST00000361163.4_Missense_Mutation_p.K100N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	100					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K100N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGCAGCACCACTTGCCCATCT	0.607																																																2	Substitution - Missense(2)	ovary(2)	2											97	122	113					2																	130877789		2203	4296	6499	130594259	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.300G>T	2.37:g.130877789C>A	ENSP00000386786:p.Lys100Asn		130594259	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	11.21	1.570465	0.28003	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.79845	-1.31;-1.31;1.5;1.53	0.562	0.562	0.17290	.	.	.	.	.	T	0.68146	0.2969	L	0.58101	1.795	0.09310	N	1	P	0.47604	0.898	B	0.28638	0.092	T	0.61744	-0.7000	8	0.87932	D	0	.	.	.	.	.	100	A5A3E0	POTEF_HUMAN	N	100	ENSP00000350052:K100N;ENSP00000386786:K100N;ENSP00000354232:K100N;ENSP00000355012:K100N	ENSP00000350052:K100N	K	-	3	2	POTEF	130594259	0.005000	0.15991	0.070000	0.20053	0.096000	0.18686	1.626000	0.37039	0.588000	0.29660	0.074000	0.15403	AAG		0.607	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130877789	C	A	130877789	3	1	92	1	0	0	0	0	1	0	0	0	12265	564	20	3	2987	3	POTEF	2	130877789	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	45279178	130877789	112321584	15	4748											
PAX3	5077	broad.mit.edu	37	2	223084942	223084942	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr2:223084942A>C	ENST00000350526.4	-	7	1226	c.1090T>G	c.(1090-1092)Tcc>Gcc	p.S364A	PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000409551.3_Missense_Mutation_p.S363A|PAX3_ENST00000392069.2_Missense_Mutation_p.S364A|PAX3_ENST00000344493.4_Missense_Mutation_p.S364A|PAX3_ENST00000336840.6_Missense_Mutation_p.S364A|PAX3_ENST00000392070.2_Missense_Mutation_p.S364A	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	364					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S364A(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTATAGCTGGAAAATCCATGC	0.572			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	ovary(1)	2											190	163	172					2																	223084942		2203	4300	6503	222793186	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1090T>G	2.37:g.223084942A>C	ENSP00000343052:p.Ser364Ala		222793186	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941749	0.73557	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.68	4.53	0.55603	.	0.108239	0.64402	D	0.000003	D	0.85336	0.5673	L	0.51422	1.61	0.80722	D	1	D;P;P;P;P	0.55385	0.971;0.64;0.717;0.918;0.802	P;B;B;P;B	0.59288	0.855;0.386;0.352;0.607;0.389	T	0.82876	-0.0240	10	0.33141	T	0.24	.	11.556	0.50748	0.9302:0.0:0.0698:0.0	.	364;363;364;364;364	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	A	364;364;364;364;364;363;81;81	ENSP00000375921:S364A;ENSP00000342092:S364A;ENSP00000343052:S364A;ENSP00000375922:S364A;ENSP00000338767:S364A;ENSP00000386750:S363A	ENSP00000338767:S364A	S	-	1	0	PAX3	222793186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	0.989000	0.38761	0.528000	0.53228	TCC		0.572	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			C	223084942	A	C	223084942	3	2	92	1	0	0	0	0	1	0	0	0	11480	246	9	5	471	5	PAX3	2	223084942	Missense_Mutation	SNP	A	TCGA-13-0883-01A-02W-0420-08	92207153	223084942	20114431	16	4749											
MST1R	4486	broad.mit.edu	37	3	49933181	49933181	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr3:49933181C>A	ENST00000296474.3	-	12	2956	c.2929G>T	c.(2929-2931)Gtc>Ttc	p.V977F	MST1R_ENST00000344206.4_Missense_Mutation_p.V928F	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	977					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.V977F(1)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TAGCTGAAGACCAGTGCAGTC	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											42	47	45					3																	49933181		2203	4300	6503	49908185	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2929G>T	3.37:g.49933181C>A	ENSP00000296474:p.Val977Phe		49908185	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.171530|2.171530	0.38315|0.38315	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000434765	T;T|.	0.76060|.	-0.99;-0.97|.	5.43|5.43	-10.9|-10.9	0.00192|0.00192	.|.	0.697227|.	0.15188|.	N|.	0.275701|.	T|T	0.24890|0.24890	0.0604|0.0604	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.15492|0.15492	-1.0435|-1.0435	10|5	0.02654|.	T|.	1|.	-1.9285|-1.9285	0.5266|0.5266	0.00621|0.00621	0.2251:0.2025:0.2778:0.2945|0.2251:0.2025:0.2778:0.2945	.|.	977|.	Q04912|.	RON_HUMAN|.	F|C	977;928|23	ENSP00000296474:V977F;ENSP00000341325:V928F|.	ENSP00000296474:V977F|.	V|W	-|-	1|3	0|0	MST1R|MST1R	49908185|49908185	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.110000|0.110000	0.19582|0.19582	-0.885000|-0.885000	0.04161|0.04161	-2.356000|-2.356000	0.00613|0.00613	-0.479000|-0.479000	0.04858|0.04858	GTC|TGG		0.582	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			A	49933181	C	A	49933181	3	1	92	1	0	0	0	0	1	0	0	0	9891	507	18	3	1309	3	MST1R	3	49933181	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08		49933181	148089249	17	4750											
NISCH	11188	broad.mit.edu	37	3	52524801	52524801	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr3:52524801C>A	ENST00000479054.1	+	20	3766	c.3694C>A	c.(3694-3696)Ctg>Atg	p.L1232M	NISCH_ENST00000345716.4_Missense_Mutation_p.L1232M			Q9Y2I1	NISCH_HUMAN	nischarin	1232					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.L1232M(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)	GCTTAGTGACCTGCAGTCAGT	0.517																																																1	Substitution - Missense(1)	ovary(1)	3											171	161	164					3																	52524801		2203	4300	6503	52499841	SO:0001583	missense	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.3694C>A	3.37:g.52524801C>A	ENSP00000418232:p.Leu1232Met		52499841	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001338	0.54254	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.20881	2.04;2.04	5.42	2.48	0.30137	.	0.000000	0.64402	D	0.000003	T	0.30039	0.0752	L	0.34521	1.04	0.41107	D	0.985712	D	0.71674	0.998	D	0.83275	0.996	T	0.03662	-1.1015	10	0.87932	D	0	-13.8549	7.309	0.26463	0.0:0.704:0.0:0.296	.	1232	Q9Y2I1	NISCH_HUMAN	M	1232;1232;156;576	ENSP00000418232:L1232M;ENSP00000339958:L1232M	ENSP00000339958:L1232M	L	+	1	2	NISCH	52499841	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.454000	0.35178	0.577000	0.29470	0.462000	0.41574	CTG		0.517	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		A	52524801	C	A	52524801	3	1	92	1	0	0	0	0	1	0	0	0	10432	680	24	3	3768	3	NISCH	3	52524801	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	2591620	52524801	145497629	18	4751											
COL6A6	131873	broad.mit.edu	37	3	130368274	130368274	+	Silent	SNP	C	C	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr3:130368274C>T	ENST00000358511.6	+	32	5632	c.5601C>T	c.(5599-5601)gcC>gcT	p.A1867A	COL6A6_ENST00000453409.2_Silent_p.A1867A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1867	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A1867A(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAAAATCGCCACATTTTTCA	0.552																																																1	Substitution - coding silent(1)	ovary(1)	3											26	27	27					3																	130368274		2029	4163	6192	131850964	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5601C>T	3.37:g.130368274C>T			131850964	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.552	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		T	130368274	C	T	130368274	2	4	92	1	0	0	0	0	0	0	0	1	3703	581	21	2		2	COL6A6	3	130368274	Silent	SNP	C	TCGA-13-0883-01A-02W-0420-08	77843473	130368274	67654156	19	4752											
C4orf35	85438	broad.mit.edu	37	4	71201072	71201072	+	Missense_Mutation	SNP	A	A	G	rs551306523		TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr4:71201072A>G	ENST00000273936.5	+	1	390	c.316A>G	c.(316-318)Ata>Gta	p.I106V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	106					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.I106V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TACAAACTCCATAACAAGAGA	0.363													A|||	1	0.000199681	8e-04	0	5008	,	,		20064	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4											51	50	50					4																	71201072		2203	4299	6502	71235661	SO:0001583	missense	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.316A>G	4.37:g.71201072A>G	ENSP00000273936:p.Ile106Val		71235661	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.538242	0.00942	.	.	ENSG00000145309	ENST00000273936	T	0.21543	2.0	4.91	0.96	0.19631	.	0.993860	0.08159	N	0.988783	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.39272	-0.9622	10	0.08381	T	0.77	-36.1861	2.9365	0.05816	0.6212:0.0:0.1966:0.1822	.	106	Q96KC9	CABS1_HUMAN	V	106	ENSP00000273936:I106V	ENSP00000273936:I106V	I	+	1	0	CABS1	71235661	0.000000	0.05858	0.006000	0.13384	0.087000	0.18053	0.250000	0.18235	0.462000	0.27095	0.528000	0.53228	ATA		0.363	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		G	71201072	A	G	71201072	3	3	92	1	0	0	0	0	1	0	0	0	2265	217	8	4	318	4	C4orf35	4	71201072	Missense_Mutation	SNP	A	TCGA-13-0883-01A-02W-0420-08		71201072	119953204	20	4753											
MAP9	79884	broad.mit.edu	37	4	156281397	156281397	+	Missense_Mutation	SNP	C	C	A	rs373132442		TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr4:156281397C>A	ENST00000311277.4	-	7	1236	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	MAP9_ENST00000515654.1_Missense_Mutation_p.D301Y|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000609254.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	325					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.D325Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTCTGTCATCATCCATAATC	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											158	144	149					4																	156281397		2203	4300	6503	156500847	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.973G>T	4.37:g.156281397C>A	ENSP00000310593:p.Asp325Tyr		156500847	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071795	0.55646	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.34275	2.1;2.08;1.37	5.15	4.29	0.51040	.	0.465598	0.21348	N	0.076010	T	0.42966	0.1226	M	0.63428	1.95	0.23113	N	0.998277	P;B;P	0.35656	0.514;0.384;0.514	P;P;P	0.45377	0.452;0.478;0.452	T	0.38112	-0.9676	10	0.56958	D	0.05	-4.7399	8.9212	0.35612	0.0:0.8999:0.0:0.1001	.	300;325;325	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	Y	325;301;324;325	ENSP00000310593:D325Y;ENSP00000427402:D301Y;ENSP00000394048:D324Y	ENSP00000310593:D325Y	D	-	1	0	MAP9	156500847	0.013000	0.17824	0.005000	0.12908	0.008000	0.06430	2.158000	0.42329	2.559000	0.86315	0.591000	0.81541	GAT		0.378	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		A	156281397	C	A	156281397	3	1	92	1	0	0	0	0	1	0	0	0	9270	826	29	3	1002	3	MAP9	4	156281397	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	85080325	156281397	34872879	21	4754											
MYO10	4651	broad.mit.edu	37	5	16701433	16701433	+	Missense_Mutation	SNP	C	C	T	rs376986603		TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr5:16701433C>T	ENST00000513610.1	-	25	3525	c.3071G>A	c.(3070-3072)cGg>cAg	p.R1024Q	MYO10_ENST00000505695.1_Missense_Mutation_p.R363Q|MYO10_ENST00000427430.2_Missense_Mutation_p.R381Q|MYO10_ENST00000515803.1_Missense_Mutation_p.R363Q|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Missense_Mutation_p.R381Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1024					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.R1024Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATCGCTGGTCCGGATGCCACT	0.637																																																1	Substitution - Missense(1)	ovary(1)	5						C	GLN/ARG	0,4348		0,0,2174	49	55	53		3071	4.7	1	5		53	1,8515		0,1,4257	no	missense	MYO10	NM_012334.2	43	0,1,6431	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	1024/2059	16701433	1,12863	2174	4258	6432	16754433	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3071G>A	5.37:g.16701433C>T	ENSP00000421280:p.Arg1024Gln		16754433	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220007	0.58560	0.0	1.17E-4	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.87729	-2.22;-2.29;-2.21;-2.29;-2.21	4.74	4.74	0.60224	.	.	.	.	.	D	0.86393	0.5922	L	0.27053	0.805	0.58432	D	0.999995	D;B	0.71674	0.998;0.342	P;B	0.58520	0.84;0.018	T	0.82860	-0.0248	9	0.11794	T	0.64	.	17.744	0.88414	0.0:1.0:0.0:0.0	.	665;1024	Q69YP8;Q9HD67	.;MYO10_HUMAN	Q	1024;363;381;363;381	ENSP00000421280:R1024Q;ENSP00000425051:R363Q;ENSP00000274203:R381Q;ENSP00000421170:R363Q;ENSP00000391106:R381Q	ENSP00000274203:R381Q	R	-	2	0	MYO10	16754433	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	4.774000	0.62339	2.180000	0.69256	0.462000	0.41574	CGG		0.637	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16701433	C	T	16701433	3	4	92	1	0	0	0	0	1	0	0	0	10062	652	23	1	3173	1	MYO10	5	16701433	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08		16701433	164213827	22	4755											
CMYA5	202333	broad.mit.edu	37	5	79033853	79033853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr5:79033853G>T	ENST00000446378.2	+	2	9296	c.9265G>T	c.(9265-9267)Gaa>Taa	p.E3089*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3089				PQKLNVEEKLSKEVTEETISFPVSSVESALEHEYDLVKLDE -> SFKTIPLPDDSETVACHKTLKSRLEDEKVTPLKENKQK ETQ (in Ref. 3; AAH62664). {ECO:0000305}.	negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.E3089*(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTTACAGAAGAAACTATCTC	0.358																																																1	Substitution - Nonsense(1)	ovary(1)	5											42	41	41					5																	79033853		1822	4071	5893	79069609	SO:0001587	stop_gained	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9265G>T	5.37:g.79033853G>T	ENSP00000394770:p.Glu3089*		79069609	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	48	14.724943	0.99807	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.61	3.77	0.43336	.	0.497898	0.18597	N	0.136572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.3469	0.43911	0.071:0.2535:0.6755:0.0	.	.	.	.	X	3089	.	ENSP00000394770:E3089X	E	+	1	0	CMYA5	79069609	0.954000	0.32549	0.003000	0.11579	0.021000	0.10359	3.024000	0.49674	0.671000	0.31185	0.655000	0.94253	GAA		0.358	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79033853	G	T	79033853	4	4	92	1	0	0	0	0	0	1	0	0	3590	943	33	3	9271	3	CMYA5	5	79033853	Nonsense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	62332420	79033853	101881407	23	4756											
LNPEP	4012	broad.mit.edu	37	5	96314940	96314940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr5:96314940G>T	ENST00000231368.5	+	2	810	c.118G>T	c.(118-120)Gag>Tag	p.E40*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.E26*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	40					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E40*(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		ACATCCTCTAGAGCCTGATGA	0.502																																																1	Substitution - Nonsense(1)	ovary(1)	5											82	90	87					5																	96314940		2203	4300	6503	96340696	SO:0001587	stop_gained	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.118G>T	5.37:g.96314940G>T	ENSP00000231368:p.Glu40*		96340696	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Nonsense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	40	7.988245	0.98596	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	.	.	.	5.96	5.96	0.96718	.	0.049490	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.989	0.97359	0.0:0.0:1.0:0.0	.	.	.	.	X	40;26	.	ENSP00000231368:E40X	E	+	1	0	LNPEP	96340696	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.830000	0.97506	0.585000	0.79938	GAG		0.502	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		T	96314940	G	T	96314940	4	4	92	1	0	0	0	0	0	1	0	0	8864	943	33	3	124	3	LNPEP	5	96314940	Nonsense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	17281087	96314940	84600320	24	4757											
CUL7	9820	broad.mit.edu	37	6	43017367	43017367	+	Missense_Mutation	SNP	C	C	T	rs201348693		TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr6:43017367C>T	ENST00000265348.3	-	7	1688	c.1603G>A	c.(1603-1605)Gtg>Atg	p.V535M	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.V619M			Q14999	CUL7_HUMAN	cullin 7	535					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.V535M(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTATGGGCACGGCCAGTTCA	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		19969	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6											93	86	88					6																	43017367		2203	4300	6503	43125345	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1603G>A	6.37:g.43017367C>T	ENSP00000265348:p.Val535Met		43125345	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746371	0.69418	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.65178	-0.14;-0.14	5.6	2.85	0.33270	.	0.428942	0.24429	N	0.038615	T	0.55940	0.1952	M	0.71206	2.165	0.80722	D	1	P;D	0.63880	0.945;0.993	B;P	0.50405	0.252;0.64	T	0.61983	-0.6950	10	0.87932	D	0	-9.7009	10.0644	0.42295	0.0:0.7803:0.0:0.2197	.	619;535	F5H0L1;Q14999	.;CUL7_HUMAN	M	535;619	ENSP00000265348:V535M;ENSP00000438788:V619M	ENSP00000265348:V535M	V	-	1	0	CUL7	43125345	0.901000	0.30685	0.941000	0.38009	0.895000	0.52256	1.908000	0.39907	0.737000	0.32582	0.655000	0.94253	GTG		0.562	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		T	43017367	C	T	43017367	3	4	92	1	0	0	0	0	1	0	0	0	4060	536	19	1	3573	1	CUL7	6	43017367	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08		43017367	128097700	25	4758											
KHDRBS2	202559	broad.mit.edu	37	6	62604663	62604663	+	Silent	SNP	G	G	C			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr6:62604663G>C	ENST00000281156.4	-	6	965	c.687C>G	c.(685-687)acC>acG	p.T229T		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	229	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.T229T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GCGCTCCACGGGTTACAGTGC	0.622																																																1	Substitution - coding silent(1)	ovary(1)	6											45	46	46					6																	62604663		2203	4300	6503	62662622	SO:0001819	synonymous_variant	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.687C>G	6.37:g.62604663G>C			62662622	A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	CCDS4963.1																																																																																				0.622	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		C	62604663	G	C	62604663	2	2	92	1	0	0	0	0	0	0	0	1	8147	1219	43	3		3	KHDRBS2	6	62604663	Silent	SNP	G	TCGA-13-0883-01A-02W-0420-08	19587296	62604663	108510404	26	4759											
ROS1	6098	broad.mit.edu	37	6	117665264	117665264	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr6:117665264T>C	ENST00000368508.3	-	27	4681	c.4483A>G	c.(4483-4485)Aat>Gat	p.N1495D	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.N1489D	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1495	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N1495D(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTCCTGTCATTAACTTCTGCA	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	1	Substitution - Missense(1)	ovary(1)	6											182	176	178					6																	117665264		2203	4300	6503	117771957	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4483A>G	6.37:g.117665264T>C	ENSP00000357494:p.Asn1495Asp		117771957	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	4.547	0.101511	0.08731	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53206	0.63;0.63	5.16	2.75	0.32379	.	0.364675	0.26421	N	0.024462	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30707	-0.9969	10	0.18276	T	0.48	.	6.8745	0.24139	0.0:0.1876:0.0:0.8124	.	1495	P08922	ROS1_HUMAN	D	1495;1489	ENSP00000357494:N1495D;ENSP00000357493:N1489D	ENSP00000357493:N1489D	N	-	1	0	ROS1	117771957	0.001000	0.12720	0.003000	0.11579	0.134000	0.20937	0.854000	0.27791	0.381000	0.24851	0.459000	0.35465	AAT		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			C	117665264	T	C	117665264	3	2	92	1	0	0	0	0	1	0	0	0	13534	1754	61	4	2628	4	ROS1	6	117665264	Missense_Mutation	SNP	T	TCGA-13-0883-01A-02W-0420-08	55060601	117665264	53449803	27	4760											
GRM1	2911	broad.mit.edu	37	6	146351325	146351325	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr6:146351325G>T	ENST00000282753.1	+	1	907	c.672G>T	c.(670-672)tgG>tgT	p.W224C	GRM1_ENST00000507907.1_Missense_Mutation_p.W224C|GRM1_ENST00000392299.2_Missense_Mutation_p.W224C|GRM1_ENST00000492807.2_Missense_Mutation_p.W224C|GRM1_ENST00000355289.4_Missense_Mutation_p.W224C|GRM1_ENST00000361719.2_Missense_Mutation_p.W224C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	224					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.W224C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTTACAATTGGACCTATGTCT	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											65	67	66					6																	146351325		2203	4300	6503	146393018	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.672G>T	6.37:g.146351325G>T	ENSP00000282753:p.Trp224Cys		146393018	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052013	0.75960	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	M	0.94063	3.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.97647	1.0152	10	0.87932	D	0	.	19.6316	0.95708	0.0:0.0:1.0:0.0	.	224;224;219;224	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	C	224	ENSP00000354896:W224C;ENSP00000376119:W224C;ENSP00000424095:W224C;ENSP00000282753:W224C;ENSP00000347437:W224C;ENSP00000425599:W224C	ENSP00000282753:W224C	W	+	3	0	GRM1	146393018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.736000	0.93811	0.561000	0.74099	TGG		0.458	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146351325	G	T	146351325	3	4	92	1	0	0	0	0	1	0	0	0	6796	1183	41	3	674	3	GRM1	6	146351325	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	28686061	146351325	24763742	28	4761											
ABCB5	340273	broad.mit.edu	37	7	20766691	20766691	+	Missense_Mutation	SNP	G	G	A	rs111647033	byFrequency	TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr7:20766691G>A	ENST00000404938.2	+	22	3306	c.2654G>A	c.(2653-2655)cGt>cAt	p.R885H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R440H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	885	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.R440H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAGAATATACGTACTATAGTG	0.318																																																1	Substitution - Missense(1)	ovary(1)	7											97	102	101					7																	20766691		2203	4300	6503	20733216	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2654G>A	7.37:g.20766691G>A	ENSP00000384881:p.Arg885His		20733216	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.7	4.325921	0.81580	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.91631	-2.88;-2.88	4.54	4.54	0.55810	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000013	D	0.97176	0.9077	H	0.95114	3.625	0.47862	D	0.999535	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97762	1.0221	10	0.87932	D	0	.	15.6107	0.76713	0.0:0.0:1.0:0.0	.	885;63;440	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	H	885;440	ENSP00000384881:R885H;ENSP00000258738:R440H	ENSP00000258738:R440H	R	+	2	0	ABCB5	20733216	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.808000	0.47963	2.805000	0.96524	0.655000	0.94253	CGT		0.318	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20766691	G	A	20766691	3	1	92	1	0	0	0	0	1	0	0	0	44	1145	40	1	2777	1	ABCB5	7	20766691	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08		20766691	138371972	29	4762											
C7orf64	84060	broad.mit.edu	37	7	92164249	92164249	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr7:92164249A>G	ENST00000265732.5	+	4	1023	c.982A>G	c.(982-984)Aca>Gca	p.T328A	RBM48_ENST00000481551.1_Missense_Mutation_p.T328A	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	328						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.T328A(1)									CTCATTGAATACAACGGCGAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	7											50	48	49					7																	92164249		1844	4089	5933	92002185	SO:0001583	missense	84060			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.982A>G	7.37:g.92164249A>G	ENSP00000265732:p.Thr328Ala		92002185	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	A	9.355	1.066532	0.20067	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.11	2.74	0.32292	.	0.306416	0.40144	N	0.001179	T	0.49966	0.1588	M	0.76574	2.34	0.36962	D	0.893384	B;B	0.26902	0.012;0.163	B;B	0.20384	0.01;0.029	T	0.45804	-0.9236	9	0.15499	T	0.54	0.657	8.0104	0.30351	0.7507:0.0:0.2493:0.0	.	328;328	B7Z2K5;Q5RL73	.;CG064_HUMAN	A	328	.	ENSP00000265732:T328A	T	+	1	0	C7orf64	92002185	1.000000	0.71417	0.998000	0.56505	0.380000	0.30137	3.803000	0.55560	0.418000	0.25898	-0.456000	0.05471	ACA		0.333	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		G	92164249	A	G	92164249	3	3	92	1	0	0	0	0	1	0	0	0	2410	391	14	4	996	4	C7orf64	7	92164249	Missense_Mutation	SNP	A	TCGA-13-0883-01A-02W-0420-08	71397558	92164249	66974414	30	4763											
HEPACAM2	253012	broad.mit.edu	37	7	92844819	92844819	+	Missense_Mutation	SNP	G	G	C	rs35608547	byFrequency	TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr7:92844819G>C	ENST00000394468.2	-	3	687	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.L192V|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.L192V|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.L227V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	204	Ig-like C2-type 1.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.L192V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GCAATATGAAGGGTATTGTTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	7											143	140	141					7																	92844819		2203	4300	6503	92682755	SO:0001583	missense	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.610C>G	7.37:g.92844819G>C	ENSP00000377980:p.Leu204Val		92682755	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707218	0.68615	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.39	2.61	0.31194	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.178327	0.49916	D	0.000126	D	0.86855	0.6033	M	0.88979	2.995	0.42575	D	0.993192	P;D;P;D	0.56746	0.947;0.977;0.762;0.97	P;P;P;P	0.55222	0.771;0.589;0.735;0.733	D	0.86342	0.1705	10	0.87932	D	0	-6.3814	8.8671	0.35294	0.2879:0.0:0.7121:0.0	.	227;192;204;192	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	V	204;192;192;227	ENSP00000377980:L204V;ENSP00000340532:L192V;ENSP00000389592:L192V;ENSP00000390204:L227V	ENSP00000340532:L192V	L	-	1	0	HEPACAM2	92682755	1.000000	0.71417	0.969000	0.41365	0.977000	0.68977	3.675000	0.54605	0.351000	0.24027	0.591000	0.81541	CTT		0.478	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		C	92844819	G	C	92844819	3	2	92	1	0	0	0	0	1	0	0	0	7053	1000	35	3	810	3	HEPACAM2	7	92844819	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	680570	92844819	66293844	31	4764											
AHCYL2	23382	broad.mit.edu	37	7	129040167	129040167	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr7:129040167A>G	ENST00000325006.3	+	6	914	c.860A>G	c.(859-861)gAt>gGt	p.D287G	AHCYL2_ENST00000531335.2_Missense_Mutation_p.D206G|AHCYL2_ENST00000474594.1_Missense_Mutation_p.D184G|AHCYL2_ENST00000490911.1_Missense_Mutation_p.D184G|AHCYL2_ENST00000446544.2_Missense_Mutation_p.D286G|AHCYL2_ENST00000446212.1_Missense_Mutation_p.D185G	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	287					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.D287G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GAGTCAGAAGATGACTTTTGG	0.448																																					Pancreas(160;1736 1964 29875 40941 45605)											1	Substitution - Missense(1)	ovary(1)	7											191	188	189					7																	129040167		2203	4300	6503	128827403	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.860A>G	7.37:g.129040167A>G	ENSP00000315931:p.Asp287Gly		128827403	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.946047|4.946047	0.92593|0.92593	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	T;T;T;T;T;T|.	0.77489|.	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77837|0.77837	0.4190|0.4190	M|M	0.85777|0.85777	2.775|2.775	0.58432|0.58432	D|D	0.999996|0.999996	P;P;P;P;P|.	0.52842|.	0.789;0.789;0.956;0.789;0.945|.	P;P;P;P;P|.	0.59595|.	0.779;0.779;0.86;0.779;0.781|.	T|T	0.80861|0.80861	-0.1193|-0.1193	10|5	0.87932|.	D|.	0|.	-9.6753|-9.6753	13.7453|13.7453	0.62872|0.62872	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	184;185;287;184;286|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	G|V	287;286;206;184;185;184|194	ENSP00000315931:D287G;ENSP00000413639:D286G;ENSP00000431787:D206G;ENSP00000420459:D184G;ENSP00000405267:D185G;ENSP00000420801:D184G|.	ENSP00000315931:D287G|.	D|M	+|+	2|1	0|0	AHCYL2|AHCYL2	128827403|128827403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.884000|8.884000	0.92432|0.92432	1.980000|1.980000	0.57719|0.57719	0.460000|0.460000	0.39030|0.39030	GAT|ATG		0.448	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			G	129040167	A	G	129040167	3	3	92	1	0	0	0	0	1	0	0	0	411	333	12	4	1004	4	AHCYL2	7	129040167	Missense_Mutation	SNP	A	TCGA-13-0883-01A-02W-0420-08	36195348	129040167	30098496	32	4765											
EYA1	2138	broad.mit.edu	37	8	72267025	72267025	+	Missense_Mutation	SNP	C	C	T	rs267601985		TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr8:72267025C>T	ENST00000340726.3	-	3	755	c.116G>A	c.(115-117)gGc>gAc	p.G39D	EYA1_ENST00000388740.3_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.G39D|EYA1_ENST00000303824.7_Missense_Mutation_p.G39D|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.G39D|EYA1_ENST00000388742.4_Missense_Mutation_p.G39D	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	39					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.G39D(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACCTTCGGTGCCATTGGGAGT	0.438																																																1	Substitution - Missense(1)	ovary(1)	8											142	145	144					8																	72267025		2203	4300	6503	72429579	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.116G>A	8.37:g.72267025C>T	ENSP00000342626:p.Gly39Asp		72429579	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868080	0.91587	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000303824;ENST00000388743;ENST00000419131	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.978	T	0.77699	-0.2490	10	0.66056	D	0.02	-15.8674	19.8144	0.96560	0.0:1.0:0.0:0.0	.	39;39;39	A6NCB9;Q99502;G5E9R4	.;EYA1_HUMAN;.	D	39	ENSP00000373394:G39D;ENSP00000342626:G39D;ENSP00000303221:G39D;ENSP00000373395:G39D;ENSP00000410176:G39D	ENSP00000303221:G39D	G	-	2	0	EYA1	72429579	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.676000	0.91093	0.650000	0.86243	GGC		0.438	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		T	72267025	C	T	72267025	3	4	92	1	0	0	0	0	1	0	0	0	5328	739	26	2	1726	2	EYA1	8	72267025	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08		72267025	74096997	33	4766											
TG	7038	broad.mit.edu	37	8	134034381	134034381	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr8:134034381G>T	ENST00000220616.4	+	40	7062	c.7022G>T	c.(7021-7023)gGc>gTc	p.G2341V	TG_ENST00000542445.1_Missense_Mutation_p.G711V|TG_ENST00000377869.1_Missense_Mutation_p.G2284V|TG_ENST00000519543.1_Missense_Mutation_p.G474V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2341					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.G2341V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTGTCTTCGGCTTCCTGAGT	0.617																																																1	Substitution - Missense(1)	ovary(1)	8											143	131	135					8																	134034381		2203	4300	6503	134103563	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7022G>T	8.37:g.134034381G>T	ENSP00000220616:p.Gly2341Val		134103563	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724900	0.89298	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.93	5.93	0.95920	Carboxylesterase, type B (1);	0.062211	0.64402	D	0.000006	D	0.97071	0.9043	H	0.99026	4.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98270	1.0503	10	0.87932	D	0	.	17.0766	0.86588	0.0:0.0:1.0:0.0	.	474;711;2341	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	V	2284;1147;2341;711;474	ENSP00000367100:G2284V;ENSP00000220616:G2341V;ENSP00000441693:G711V;ENSP00000430430:G474V	ENSP00000220616:G2341V	G	+	2	0	TG	134103563	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.497000	0.90488	2.815000	0.96918	0.561000	0.74099	GGC		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134034381	G	T	134034381	3	4	92	1	0	0	0	0	1	0	0	0	15813	1203	42	3	7180	3	TG	8	134034381	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	61767356	134034381	12329641	34	4767											
ADAMTSL1	92949	broad.mit.edu	37	9	18777219	18777219	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr9:18777219C>A	ENST00000380548.4	+	19	3331	c.2992C>A	c.(2992-2994)Cag>Aag	p.Q998K		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	998						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q998K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCACAAACACCAGAACGGGAT	0.687																																																1	Substitution - Missense(1)	ovary(1)	9											19	23	22					9																	18777219		1898	4104	6002	18767219	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2992C>A	9.37:g.18777219C>A	ENSP00000369921:p.Gln998Lys		18767219	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	5.409	0.260702	0.10239	.	.	ENSG00000178031	ENST00000380548	T	0.61859	0.07	5.75	5.75	0.90469	.	.	.	.	.	T	0.43055	0.1230	N	0.14661	0.345	0.80722	D	1	B	0.20887	0.049	B	0.16722	0.016	T	0.24083	-1.0170	9	0.34782	T	0.22	.	16.9189	0.86159	0.0:0.8725:0.1275:0.0	.	998	Q8N6G6	ATL1_HUMAN	K	998	ENSP00000369921:Q998K	ENSP00000369921:Q998K	Q	+	1	0	ADAMTSL1	18767219	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.726000	0.25984	2.724000	0.93272	0.455000	0.32223	CAG		0.687	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			A	18777219	C	A	18777219	3	1	92	1	0	0	0	0	1	0	0	0	274	595	21	3	3070	3	ADAMTSL1	9	18777219	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08		18777219	122436212	35	4768											
ZEB1	6935	broad.mit.edu	37	10	31809760	31809760	+	Silent	SNP	T	T	C			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr10:31809760T>C	ENST00000320985.10	+	7	1607	c.1497T>C	c.(1495-1497)gcT>gcC	p.A499A	ZEB1_ENST00000446923.2_Silent_p.A483A|ZEB1_ENST00000361642.5_Silent_p.A500A|ZEB1_ENST00000542815.3_Silent_p.A432A|ZEB1_ENST00000560721.2_Silent_p.A479A|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	499					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A499A(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCCAGTCGCTACAAACAGTT	0.373																																					Ovarian(40;423 959 14296 36701 49589)											1	Substitution - coding silent(1)	ovary(1)	10											54	62	59					10																	31809760		2203	4300	6503	31849766	SO:0001819	synonymous_variant	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1497T>C	10.37:g.31809760T>C			31849766	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	CCDS7169.1																																																																																				0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		C	31809760	T	C	31809760	2	2	92	1	0	0	0	0	0	0	0	1	17623	1509	53	4		4	ZEB1	10	31809760	Silent	SNP	T	TCGA-13-0883-01A-02W-0420-08		31809760	103724987	36	4769											
OR10A5	144124	broad.mit.edu	37	11	6867497	6867497	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr11:6867497T>A	ENST00000299454.4	+	1	615	c.584T>A	c.(583-585)cTg>cAg	p.L195Q	OR10A5_ENST00000379831.2_Missense_Mutation_p.L199Q			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	195					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L195Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACACAGCACTGTTTGAGATC	0.512																																					Pancreas(44;21 1072 25662 28041 45559)											1	Substitution - Missense(1)	ovary(1)	11											259	209	226					11																	6867497		2201	4296	6497	6824073	SO:0001583	missense	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.584T>A	11.37:g.6867497T>A	ENSP00000299454:p.Leu195Gln		6824073	O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	7.967	0.748222	0.15710	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00249	8.44;8.44	3.59	-4.45	0.03546	GPCR, rhodopsin-like superfamily (1);	1.268040	0.05680	N	0.590208	T	0.00210	0.0006	M	0.73753	2.245	0.09310	N	1	B	0.09022	0.002	B	0.18263	0.021	T	0.15607	-1.0431	10	0.36615	T	0.2	.	6.0162	0.19605	0.5299:0.0:0.1357:0.3344	.	195	Q9H207	O10A5_HUMAN	Q	195;199	ENSP00000299454:L195Q;ENSP00000369159:L199Q	ENSP00000299454:L195Q	L	+	2	0	OR10A5	6824073	0.000000	0.05858	0.419000	0.26584	0.949000	0.60115	-2.514000	0.00956	-0.894000	0.03925	0.482000	0.46254	CTG		0.512	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		A	6867497	T	A	6867497	3	1	92	1	0	0	0	0	1	0	0	0	10893	1580	55	5	586	5	OR10A5	11	6867497	Missense_Mutation	SNP	T	TCGA-13-0883-01A-02W-0420-08		6867497	128139019	37	4770											
MED19	219541	broad.mit.edu	37	11	57472256	57472256	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr11:57472256T>A	ENST00000431606.2	-	3	535	c.506A>T	c.(505-507)cAg>cTg	p.Q169L	MED19_ENST00000337672.2_Missense_Mutation_p.Q169L			A0JLT2	MED19_HUMAN	mediator complex subunit 19	169						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q169L(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						CTTGGGAGGCTGAATATGCAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	11											112	116	115					11																	57472256		2201	4296	6497	57228832	SO:0001583	missense	219541			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.506A>T	11.37:g.57472256T>A	ENSP00000416227:p.Gln169Leu		57228832	Q8IV02|Q8IZD1	Missense_Mutation	SNP	ENST00000431606.2	37		.	.	.	.	.	.	.	.	.	.	T	24.1	4.490866	0.84962	.	.	ENSG00000156603	ENST00000337672;ENST00000431606	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.76574	2.34	0.80722	D	1	D;D	0.63046	0.992;0.985	D;D	0.74023	0.979;0.982	T	0.74607	-0.3609	9	0.22706	T	0.39	-24.8056	14.8792	0.70519	0.0:0.0:0.0:1.0	.	169;169	A0JLT2-2;A0JLT2	.;MED19_HUMAN	L	169	.	ENSP00000337340:Q169L	Q	-	2	0	MED19	57228832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.384000	0.66225	1.997000	0.58415	0.459000	0.35465	CAG		0.468	MED19-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000393702.1	NM_153450		A	57472256	T	A	57472256	3	1	92	1	0	0	0	0	1	0	0	0	9437	1580	55	5	86	5	MED19	11	57472256	Missense_Mutation	SNP	T	TCGA-13-0883-01A-02W-0420-08	50604759	57472256	77534260	38	4771											
ZFP91	80829	broad.mit.edu	37	11	58384963	58384963	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr11:58384963G>C	ENST00000316059.6	+	11	1668	c.1497G>C	c.(1495-1497)ttG>ttC	p.L499F	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.L499F	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	499					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.L499F(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGAGCCCTTGGGAAACTCAA	0.552																																																2	Substitution - Missense(2)	ovary(2)	11											85	78	80					11																	58384963		2201	4295	6496	58141539	SO:0001583	missense	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1497G>C	11.37:g.58384963G>C	ENSP00000339030:p.Leu499Phe		58141539	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130908	0.56828	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.13089	2.62	6.16	6.16	0.99307	.	0.000000	0.52532	D	0.000075	T	0.21921	0.0528	L	0.27053	0.805	0.38992	D	0.959161	D;D	0.69078	0.997;0.995	D;D	0.78314	0.991;0.979	T	0.02047	-1.1223	10	0.54805	T	0.06	-5.7695	8.4051	0.32610	0.0761:0.0:0.7687:0.1553	.	499;499	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	F	499	ENSP00000339030:L499F	ENSP00000374569:L499F	L	+	3	2	ZFP91	58141539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.098000	0.41757	2.937000	0.99478	0.650000	0.86243	TTG		0.552	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		C	58384963	G	C	58384963	3	2	92	1	0	0	0	0	1	0	0	0	17655	1339	47	3	1539	3	ZFP91	11	58384963	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	912707	58384963	76621553	39	4772											
USP2	9099	broad.mit.edu	37	11	119229841	119229841	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr11:119229841C>G	ENST00000260187.2	-	6	1359	c.1065G>C	c.(1063-1065)caG>caC	p.Q355H	USP2_ENST00000525735.1_Missense_Mutation_p.Q146H|USP2_ENST00000455332.2_Missense_Mutation_p.Q112H	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	355	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q355H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GAGCATCCTGCTGACTGAACC	0.537																																																1	Substitution - Missense(1)	ovary(1)	11											88	77	80					11																	119229841		2199	4295	6494	118735051	SO:0001583	missense	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1065G>C	11.37:g.119229841C>G	ENSP00000260187:p.Gln355His		118735051	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041455	0.75732	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.57436	0.4;0.4;0.4	5.92	5.0	0.66597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.991;0.999	T	0.80562	-0.1327	10	0.52906	T	0.07	-5.3465	14.2893	0.66265	0.0:0.9266:0.0:0.0734	.	112;355;146	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	H	112;355;102;146	ENSP00000407842:Q112H;ENSP00000260187:Q355H;ENSP00000436952:Q146H	ENSP00000260187:Q355H	Q	-	3	2	USP2	118735051	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.730000	0.47335	2.795000	0.96236	0.655000	0.94253	CAG		0.537	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		G	119229841	C	G	119229841	3	3	92	1	0	0	0	0	1	0	0	0	17051	796	28	3	784	3	USP2	11	119229841	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	60844878	119229841	15776675	40	4773											
ATF7IP	55729	broad.mit.edu	37	12	14577314	14577314	+	Silent	SNP	C	C	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr12:14577314C>A	ENST00000540793.1	+	1	620	c.465C>A	c.(463-465)acC>acA	p.T155T	ATF7IP_ENST00000543189.1_Silent_p.T155T|ATF7IP_ENST00000544627.1_Silent_p.T163T|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Silent_p.T155T|ATF7IP_ENST00000261168.4_Silent_p.T155T			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	155					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.T155T(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTGATTCCACCTCTGGTGATC	0.577																																																1	Substitution - coding silent(1)	ovary(1)	12											66	64	65					12																	14577314		2203	4300	6503	14468581	SO:0001819	synonymous_variant	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.465C>A	12.37:g.14577314C>A			14468581	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	CCDS8663.1																																																																																				0.577	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		A	14577314	C	A	14577314	2	1	92	1	0	0	0	0	0	0	0	1	1087	668	24	3		3	ATF7IP	12	14577314	Silent	SNP	C	TCGA-13-0883-01A-02W-0420-08		14577314	119274581	41	4774											
ABCC9	10060	broad.mit.edu	37	12	22086847	22086847	+	Silent	SNP	G	G	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr12:22086847G>A	ENST00000261201.4	-	2	152	c.153C>T	c.(151-153)agC>agT	p.S51S	ABCC9_ENST00000261200.4_Silent_p.S51S|ABCC9_ENST00000345162.2_Silent_p.S51S|ABCC9_ENST00000538350.1_Silent_p.S51S|ABCC9_ENST00000326684.4_Silent_p.S51S	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	51					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.S51S(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTGAGCTTTGGCTCCCCCACC	0.373																																																1	Substitution - coding silent(1)	ovary(1)	12											145	127	133					12																	22086847		2203	4300	6503	21978114	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.153C>T	12.37:g.22086847G>A			21978114	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.373	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	22086847	G	A	22086847	2	1	92	1	0	0	0	0	0	0	0	1	59	1194	42	2		2	ABCC9	12	22086847	Silent	SNP	G	TCGA-13-0883-01A-02W-0420-08	7509533	22086847	111765048	42	4775											
SLC38A1	81539	broad.mit.edu	37	12	46601010	46601010	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr12:46601010C>T	ENST00000398637.5	-	8	1185	c.491G>A	c.(490-492)aGc>aAc	p.S164N	SLC38A1_ENST00000546893.1_Missense_Mutation_p.S164N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.S164N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.S164N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S164N|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	164					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.S164N(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GAAGAGGTAGCTCAGCATTGC	0.353																																																1	Substitution - Missense(1)	ovary(1)	12											68	60	62					12																	46601010		1826	4084	5910	44887277	SO:0001583	missense	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.491G>A	12.37:g.46601010C>T	ENSP00000381634:p.Ser164Asn		44887277	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571510	0.86542	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	M	0.87547	2.89	0.49798	D	0.99982	D;D;D	0.71674	0.998;0.995;0.998	D;D;D	0.79108	0.992;0.923;0.985	T	0.00112	-1.2044	10	0.87932	D	0	-21.6858	15.1313	0.72527	0.1413:0.8587:0.0:0.0	.	164;164;164	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	N	164	ENSP00000449607:S164N;ENSP00000398142:S164N;ENSP00000381634:S164N;ENSP00000447853:S164N;ENSP00000449756:S164N	ENSP00000381634:S164N	S	-	2	0	SLC38A1	44887277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.936000	0.63506	2.817000	0.96982	0.563000	0.77884	AGC		0.353	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			T	46601010	C	T	46601010	3	4	92	1	0	0	0	0	1	0	0	0	14604	797	28	2	1012	2	SLC38A1	12	46601010	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	24514163	46601010	87250885	43	4776											
C14orf43	91748	broad.mit.edu	37	14	74205748	74205748	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr14:74205748G>A	ENST00000286523.5	-	2	1746	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R322C	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	322	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R322C(1)									AGGGCCTTGCGCAGTTCTGGG	0.662																																																1	Substitution - Missense(1)	ovary(1)	14											24	25	25					14																	74205748		2203	4298	6501	73275501	SO:0001583	missense	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.964C>T	14.37:g.74205748G>A	ENSP00000286523:p.Arg322Cys		73275501	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014332	0.54468	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.78	4.78	0.61160	.	0.406531	0.23690	N	0.045521	T	0.11324	0.0276	N	0.19112	0.55	0.38337	D	0.943975	D;B	0.61697	0.99;0.024	B;B	0.43575	0.424;0.007	T	0.07868	-1.0750	10	0.38643	T	0.18	-12.9232	8.5612	0.33511	0.181:0.0:0.819:0.0	.	322;322	A0PJD3;Q6PJG2	.;CN043_HUMAN	C	322	ENSP00000377634:R322C;ENSP00000286523:R322C;ENSP00000407767:R322C;ENSP00000402380:R322C	ENSP00000286523:R322C	R	-	1	0	C14orf43	73275501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.574000	0.53863	2.211000	0.71520	0.561000	0.74099	CGC		0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		A	74205748	G	A	74205748	3	1	92	1	0	0	0	0	1	0	0	0	1774	1087	38	1	2217	1	C14orf43	14	74205748	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08		74205748	33143792	44	4777											
DLK1	8788	broad.mit.edu	37	14	101200564	101200564	+	Silent	SNP	C	C	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr14:101200564C>T	ENST00000341267.4	+	5	725	c.483C>T	c.(481-483)ggC>ggT	p.G161G	DLK1_ENST00000331224.6_Silent_p.G161G	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	161	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.G161G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCCCCCCTGGCTTCTCAGGCA	0.647																																																1	Substitution - coding silent(1)	ovary(1)	14											63	63	63					14																	101200564		2201	4299	6500	100270317	SO:0001819	synonymous_variant	8788			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.483C>T	14.37:g.101200564C>T			100270317	P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	CCDS9963.1																																																																																				0.647	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			T	101200564	C	T	101200564	2	4	92	1	0	0	0	0	0	0	0	1	4564	784	28	2		2	DLK1	14	101200564	Silent	SNP	C	TCGA-13-0883-01A-02W-0420-08	26994816	101200564	6148976	45	4778											
C15orf55	256646	broad.mit.edu	37	15	34648712	34648712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr15:34648712G>T	ENST00000333756.4	+	7	2574	c.2419G>T	c.(2419-2421)Gga>Tga	p.G807*	NUTM1_ENST00000438749.3_Nonsense_Mutation_p.G825*|NUTM1_ENST00000537011.1_Nonsense_Mutation_p.G835*	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	807						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G807*(1)									CAGCTTGCCAGGACCTTTGAG	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	15											50	53	52					15																	34648712		2201	4298	6499	32436004	SO:0001587	stop_gained	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2419G>T	15.37:g.34648712G>T	ENSP00000329448:p.Gly807*		32436004	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Nonsense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	40	7.948691	0.98577	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	.	.	.	4.39	2.44	0.29823	.	0.751749	0.12201	N	0.490316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.1695	0.25710	0.2142:0.0:0.7858:0.0	.	.	.	.	X	835;825;807	.	ENSP00000329448:G807X	G	+	1	0	C15orf55	32436004	0.014000	0.17966	0.001000	0.08648	0.137000	0.21094	1.762000	0.38451	1.037000	0.40024	0.555000	0.69702	GGA		0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		T	34648712	G	T	34648712	4	4	92	1	0	0	0	0	0	1	0	0	1803	1001	35	3	2445	3	C15orf55	15	34648712	Nonsense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08		34648712	67882680	46	4779											
PLCB2	5330	broad.mit.edu	37	15	40594162	40594162	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr15:40594162C>T	ENST00000260402.3	-	7	827	c.578G>A	c.(577-579)gGc>gAc	p.G193D	PLCB2_ENST00000456256.2_Missense_Mutation_p.G193D|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Missense_Mutation_p.G193D|PLCB2_ENST00000557821.1_Missense_Mutation_p.G193D	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	193					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G193D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTCACTTTGCCTTTGGGGAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	15											44	47	46					15																	40594162		2020	4186	6206	38381454	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.578G>A	15.37:g.40594162C>T	ENSP00000260402:p.Gly193Asp		38381454	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968833	0.92855	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.44881	0.91;0.91;0.91	4.86	4.86	0.63082	.	0.160662	0.56097	D	0.000034	T	0.68513	0.3009	M	0.84326	2.69	0.80722	D	1	D;B;D;B	0.89917	0.981;0.061;1.0;0.032	P;B;D;B	0.75484	0.852;0.072;0.986;0.083	T	0.73372	-0.4003	10	0.72032	D	0.01	.	18.553	0.91072	0.0:1.0:0.0:0.0	.	193;193;193;193	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	D	193	ENSP00000260402:G193D;ENSP00000411991:G193D;ENSP00000444652:G193D	ENSP00000260402:G193D	G	-	2	0	PLCB2	38381454	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.866000	0.69590	2.706000	0.92434	0.555000	0.69702	GGC		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			T	40594162	C	T	40594162	3	4	92	1	0	0	0	0	1	0	0	0	12028	739	26	2	3083	2	PLCB2	15	40594162	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	5945450	40594162	61937230	47	4780											
ZWILCH	55055	broad.mit.edu	37	15	66816042	66816042	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr15:66816042A>G	ENST00000307897.5	+	8	1155	c.775A>G	c.(775-777)Aga>Gga	p.R259G	ZWILCH_ENST00000446801.2_Missense_Mutation_p.R145G|RPL4_ENST00000564517.1_5'Flank|ZWILCH_ENST00000565627.1_Missense_Mutation_p.R145G|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.R145G	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	259					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.R259G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AGGAGAGCCCAGAGGTCCTTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	15											134	149	144					15																	66816042		2201	4299	6500	64603096	SO:0001583	missense	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.775A>G	15.37:g.66816042A>G	ENSP00000311429:p.Arg259Gly		64603096	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221655	0.58560	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.51071	0.72;0.72;0.72	5.4	4.23	0.50019	.	0.046701	0.85682	D	0.000000	T	0.62636	0.2444	M	0.72894	2.215	0.46927	D	0.999251	D	0.89917	1.0	D	0.75484	0.986	T	0.65335	-0.6193	10	0.72032	D	0.01	-19.4001	7.2816	0.26314	0.7075:0.1494:0.0:0.143	.	259	Q9H900	ZWILC_HUMAN	G	259;145;145	ENSP00000311429:R259G;ENSP00000402217:R145G;ENSP00000437749:R145G	ENSP00000311429:R259G	R	+	1	2	ZWILCH	64603096	0.989000	0.36119	0.996000	0.52242	0.548000	0.35241	2.431000	0.44775	2.034000	0.60081	0.477000	0.44152	AGA		0.343	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		G	66816042	A	G	66816042	3	3	92	1	0	0	0	0	1	0	0	0	18248	180	7	4	805	4	ZWILCH	15	66816042	Missense_Mutation	SNP	A	TCGA-13-0883-01A-02W-0420-08	26221880	66816042	35715350	48	4781											
XYLT1	64131	broad.mit.edu	37	16	17292121	17292121	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr16:17292121C>T	ENST00000261381.6	-	5	1321	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	413					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.D413N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGGCCAGTCGGTCATCTCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											88	74	78					16																	17292121		2197	4300	6497	17199622	SO:0001583	missense	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1237G>A	16.37:g.17292121C>T	ENSP00000261381:p.Asp413Asn		17199622	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729636	0.89390	.	.	ENSG00000103489	ENST00000261381	T	0.14391	2.51	5.45	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02161	-1.1203	10	0.48119	T	0.1	-38.3127	13.2832	0.60228	0.0:0.924:0.0:0.076	.	413	Q86Y38	XYLT1_HUMAN	N	413	ENSP00000261381:D413N	ENSP00000261381:D413N	D	-	1	0	XYLT1	17199622	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.731000	0.84895	1.301000	0.44836	0.655000	0.94253	GAC		0.622	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		T	17292121	C	T	17292121	3	4	92	1	0	0	0	0	1	0	0	0	17463	884	31	1	1674	1	XYLT1	16	17292121	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08		17292121	73062632	49	4782											
TP53	7157	broad.mit.edu	37	17	7577566	7577567	+	Frame_Shift_Ins	INS	-	-	A	rs193920789		TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	-	-	A	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr17:7577566_7577567insA	ENST00000269305.4	-	7	903_904	c.714_715insT	c.(712-717)tgtaacfs	p.N239fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N239fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.N239fs	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.C238*(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.C238W(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)	CAGGAACTGTTACACATGTAGT	0.574		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"	103	Substitution - Missense(42)|Insertion - Frameshift(18)|Deletion - In frame(15)|Whole gene deletion(8)|Deletion - Frameshift(7)|Substitution - Nonsense(5)|Unknown(5)|Complex - frameshift(1)|Substitution - coding silent(1)|Insertion - In frame(1)	ovary(14)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(9)|lung(8)|biliary_tract(7)|large_intestine(7)|upper_aerodigestive_tract(6)|breast(6)|endometrium(5)|urinary_tract(5)|bone(5)|stomach(4)|prostate(2)|liver(1)|skin(1)|pancreas(1)	17																																								7518292	SO:0001589	frameshift_variant	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.715dupT	17.37:g.7577567_7577567dupA	ENSP00000269305:p.Asn239fs		7518291	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577567	-	A	7577566	7	5	92	1	0	1	1	0	0	0	0	0	16381	1754	61	0	575	0	TP53	17	7577566	Frame_Shift_Ins	INS	-	TCGA-13-0883-01A-02W-0420-08		7577566	73617644	50	4783											
INSR	3643	broad.mit.edu	37	19	7125412	7125412	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr19:7125412T>A	ENST00000302850.5	-	17	3282	c.3140A>T	c.(3139-3141)aAg>aTg	p.K1047M	INSR_ENST00000341500.5_Missense_Mutation_p.K1035M	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1047	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.K1047M(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGCCTCACCCTTGATGATGTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											160	124	136					19																	7125412		2203	4300	6503	7076412	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3140A>T	19.37:g.7125412T>A	ENSP00000303830:p.Lys1047Met		7076412	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556536	0.86231	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.89746	-2.56;-2.56	5.06	5.06	0.68205	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	D	0.000190	D	0.91912	0.7439	L	0.49699	1.58	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.70716	0.927;0.97	D	0.92583	0.6076	10	0.87932	D	0	.	12.8032	0.57598	0.0:0.0:0.0:1.0	.	1035;1047	P06213-2;P06213	.;INSR_HUMAN	M	1047;1035	ENSP00000303830:K1047M;ENSP00000342838:K1035M	ENSP00000303830:K1047M	K	-	2	0	INSR	7076412	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.804000	0.69135	2.131000	0.65755	0.533000	0.62120	AAG		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7125412	T	A	7125412	3	1	92	1	0	0	0	0	1	0	0	0	7773	1609	56	5	1032	5	INSR	19	7125412	Missense_Mutation	SNP	T	TCGA-13-0883-01A-02W-0420-08		7125412	52003571	51	4784											
FBXW9	84261	broad.mit.edu	37	19	12800620	12800620	+	Silent	SNP	C	C	G			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr19:12800620C>G	ENST00000380339.3	-	7	1227	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	FBXW9_ENST00000587955.1_Silent_p.L387L|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000393261.3_Silent_p.L367L|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000544494.1_Silent_p.L105L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	397					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.C52S(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						AGACGTGCAGCAGGCCCTGGT	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											64	62	63					19																	12800620		2203	4300	6503	12661620	SO:0001819	synonymous_variant	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1191G>C	19.37:g.12800620C>G			12661620	B3KVP7|Q9BT89	Silent	SNP	ENST00000380339.3	37																																																																																					0.642	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		G	12800620	C	G	12800620	2	3	92	1	0	0	0	0	0	0	0	1	5771	697	25	3		3	FBXW9	19	12800620	Silent	SNP	C	TCGA-13-0883-01A-02W-0420-08	5675208	12800620	46328363	52	4785											
ZNF565	147929	broad.mit.edu	37	19	36674015	36674015	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr19:36674015C>T	ENST00000355114.5	-	5	1699	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	ZNF565_ENST00000304116.5_Missense_Mutation_p.G285S|ZNF565_ENST00000392173.2_Missense_Mutation_p.G285S			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	325					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.G285S(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AAAGCCTTGCCACAGTCTTTA	0.478																																																1	Substitution - Missense(1)	ovary(1)	19											91	82	85					19																	36674015		2203	4300	6503	41365855	SO:0001583	missense	147929			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.973G>A	19.37:g.36674015C>T	ENSP00000347234:p.Gly325Ser		41365855	B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37		.	.	.	.	.	.	.	.	.	.	c	17.02	3.281691	0.59758	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.07216	3.21;3.21;3.21	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.180579	0.27052	N	0.021174	T	0.21590	0.0520	L	0.61387	1.9	0.36509	D	0.869495	D	0.64830	0.994	P	0.58577	0.841	T	0.07751	-1.0756	10	0.72032	D	0.01	.	14.6058	0.68478	0.0:1.0:0.0:0.0	.	285	Q8N9K5	ZN565_HUMAN	S	285;285;325	ENSP00000376013:G285S;ENSP00000306869:G285S;ENSP00000347234:G325S	ENSP00000306869:G285S	G	-	1	0	ZNF565	41365855	0.994000	0.37717	0.980000	0.43619	0.023000	0.10783	4.502000	0.60400	2.385000	0.81259	0.585000	0.79938	GGC		0.478	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		T	36674015	C	T	36674015	3	4	92	1	0	0	0	0	1	0	0	0	17996	594	21	2	650	2	ZNF565	19	36674015	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08	23873395	36674015	22454968	53	4786											
CEP250	11190	broad.mit.edu	37	20	34085800	34085800	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr20:34085800T>C	ENST00000397527.1	+	26	4279	c.3559T>C	c.(3559-3561)Tct>Cct	p.S1187P	CEP250_ENST00000342580.4_Missense_Mutation_p.S1131P	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1187	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.S1187P(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGCCTCTACTCTGCCCTGCA	0.677																																																1	Substitution - Missense(1)	ovary(1)	20											16	19	18					20																	34085800		2201	4300	6501	33549214	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3559T>C	20.37:g.34085800T>C	ENSP00000380661:p.Ser1187Pro		33549214	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606532	0.66445	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.14893	2.52;2.47	5.22	4.08	0.47627	.	0.264500	0.27797	N	0.017814	T	0.28632	0.0709	M	0.70595	2.14	0.09310	N	1	P	0.47604	0.898	P	0.50791	0.65	T	0.07578	-1.0765	10	0.45353	T	0.12	.	10.4838	0.44708	0.0:0.0:0.1631:0.8369	.	1187	Q9BV73	CP250_HUMAN	P	1187;1131	ENSP00000380661:S1187P;ENSP00000341541:S1131P	ENSP00000341541:S1131P	S	+	1	0	CEP250	33549214	0.001000	0.12720	0.543000	0.28128	0.985000	0.73830	0.316000	0.19469	0.780000	0.33566	0.374000	0.22700	TCT		0.677	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		C	34085800	T	C	34085800	3	2	92	1	0	0	0	0	1	0	0	0	3252	1551	54	4	3649	4	CEP250	20	34085800	Missense_Mutation	SNP	T	TCGA-13-0883-01A-02W-0420-08		34085800	28939720	54	4787											
KCNG1	3755	broad.mit.edu	37	20	49626624	49626624	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chr20:49626624G>T	ENST00000371571.4	-	2	537	c.252C>A	c.(250-252)ttC>ttA	p.F84L	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.F84L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	84					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.F84L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGTCAGCGGGAACTCGTCCA	0.632																																																1	Substitution - Missense(1)	ovary(1)	20											70	60	64					20																	49626624		2203	4300	6503	49060031	SO:0001583	missense	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.252C>A	20.37:g.49626624G>T	ENSP00000360626:p.Phe84Leu		49060031	A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848516	0.32699	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171;ENST00000433903	T;T;T;T;T	0.77098	0.95;0.95;0.95;0.95;-1.07	5.63	4.69	0.59074	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.85057	0.5610	M	0.73430	2.235	0.58432	D	0.999995	D;D	0.65815	0.995;0.995	P;D	0.63957	0.892;0.92	D	0.85271	0.1056	9	.	.	.	.	11.0179	0.47701	0.1426:0.0:0.8574:0.0	.	84;84	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	L	84	ENSP00000360626:F84L;ENSP00000379338:F84L;ENSP00000394075:F84L;ENSP00000394093:F84L;ENSP00000408116:F84L	.	F	-	3	2	KCNG1	49060031	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.650000	0.61440	1.524000	0.49035	-0.258000	0.10820	TTC		0.632	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		T	49626624	G	T	49626624	3	4	92	1	0	0	0	0	1	0	0	0	8027	1165	41	3	1297	3	KCNG1	20	49626624	Missense_Mutation	SNP	G	TCGA-13-0883-01A-02W-0420-08	15540824	49626624	13398896	55	4788											
TBX22	50945	broad.mit.edu	37	X	79281244	79281244	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01A-02W-0420-08	TCGA-13-0883-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	09e18154-0997-4a60-8471-e5cb90ac3a89	5aeaad55-e734-45a5-b2d5-9d517976f5c9	g.chrX:79281244C>A	ENST00000373294.5	+	4	629	c.601C>A	c.(601-603)Ctc>Atc	p.L201I	TBX22_ENST00000442340.1_Missense_Mutation_p.L81I|TBX22_ENST00000373296.3_Missense_Mutation_p.L201I|TBX22_ENST00000373291.1_Missense_Mutation_p.L81I	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	201					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L201I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGCATGAAACTCACCAACAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											105	68	80					X																	79281244		2203	4300	6503	79167900	SO:0001583	missense	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.601C>A	X.37:g.79281244C>A	ENSP00000362390:p.Leu201Ile		79167900	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385035	0.82792	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	4.77	4.77	0.60923	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.95030	0.8391	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95716	0.8762	10	0.87932	D	0	.	15.4757	0.75478	0.0:1.0:0.0:0.0	.	201	Q9Y458	TBX22_HUMAN	I	201;81;201;81	ENSP00000362393:L201I;ENSP00000396394:L81I;ENSP00000362390:L201I;ENSP00000362388:L81I	ENSP00000362388:L81I	L	+	1	0	TBX22	79167900	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	5.619000	0.67729	1.948000	0.56530	0.600000	0.82982	CTC		0.537	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		A	79281244	C	A	79281244	3	1	92	1	0	0	0	0	1	0	0	0	15658	565	20	3	615	3	TBX22	23	79281244	Missense_Mutation	SNP	C	TCGA-13-0883-01A-02W-0420-08		79281244	75989316	56	4789											
C1orf127	148345	genome.wustl.edu	37	1	11017680	11017680	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr1:11017680C>G	ENST00000377008.4	-	7	685	c.239G>C	c.(238-240)aGg>aCg	p.R80T	C1orf127_ENST00000377004.4_Missense_Mutation_p.R229T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	80								p.R80T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GACCTCCCACCTCTGAAGAAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											52	50	50					1																	11017680		2203	4300	6503	10940267	SO:0001583	missense	148345			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.239G>C	1.37:g.11017680C>G	ENSP00000366207:p.Arg80Thr		10940267	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.59|12.59	1.983705|1.983705	0.35036|0.35036	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.37235	.|1.56;1.21	5.25|5.25	4.33|4.33	0.51752|0.51752	.|.	.|0.199257	.|0.31697	.|N	.|0.007202	T|T	0.38532|0.38532	0.1044|0.1044	L|L	0.29908|0.29908	0.895|0.895	0.23243|0.23243	N|N	0.998051|0.998051	.|P;P;P	.|0.50943	.|0.94;0.94;0.94	.|P;P;P	.|0.53450	.|0.726;0.726;0.726	T|T	0.17592|0.17592	-1.0364|-1.0364	5|10	.|0.56958	.|D	.|0.05	-8.6686|-8.6686	11.8313|11.8313	0.52297|0.52297	0.0:0.8231:0.1769:0.0|0.0:0.8231:0.1769:0.0	.|.	.|80;80;80	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	R|T	82;207|229;80	.|ENSP00000366203:R229T;ENSP00000366207:R80T	.|ENSP00000366203:R229T	G|R	-|-	1|2	0|0	C1orf127|C1orf127	10940267|10940267	0.611000|0.611000	0.26992|0.26992	0.975000|0.975000	0.42487|0.42487	0.536000|0.536000	0.34869|0.34869	1.205000|1.205000	0.32308|0.32308	1.181000|1.181000	0.42912|0.42912	-0.175000|-0.175000	0.13238|0.13238	GGT|AGG		0.597	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		G	11017680	C	G	11017680	3	3	93	1	0	0	0	0	1	0	0	0	1994	681	24	3	1809	3	C1orf127	1	11017680	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		11017680	238232941	1	4790											
HSPG2	3339	genome.wustl.edu	37	1	22202240	22202240	+	Splice_Site	SNP	G	G	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr1:22202240G>T	ENST00000374695.3	-	25	3263	c.3184C>A	c.(3184-3186)Caa>Aaa	p.Q1062K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1062	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.Q1062K(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCCATGCTTGCTGCCAAGGA	0.657																																																1	Substitution - Missense(1)	ovary(1)	1											79	84	82					1																	22202240		2203	4300	6503	22074827	SO:0001630	splice_region_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3184-1C>A	1.37:g.22202240G>T			22074827	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	5.526	0.281992	0.10458	.	.	ENSG00000142798	ENST00000374695	T	0.34472	1.36	5.51	1.21	0.21127	Laminin B type IV (2);Laminin B, subgroup (1);	0.395100	0.18641	N	0.135288	T	0.25005	0.0607	L	0.28556	0.865	0.32091	N	0.591888	B	0.14805	0.011	B	0.14023	0.01	T	0.19712	-1.0297	10	0.38643	T	0.18	.	10.8779	0.46921	0.0:0.3898:0.4761:0.1341	.	1062	P98160	PGBM_HUMAN	K	1062	ENSP00000363827:Q1062K	ENSP00000363827:Q1062K	Q	-	1	0	HSPG2	22074827	0.651000	0.27340	0.998000	0.56505	0.142000	0.21351	1.015000	0.29963	0.271000	0.22005	-1.303000	0.01326	CAA		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Missense_Mutation	T	22202240	G	T	22202240	5	4	93	1	0	0	0	0	0	0	1	0	7430	1333	46	3	10283	3	HSPG2	1	22202240	Splice_Site	SNP	G	TCGA-13-0884-01B-01W-0494-09	11184560	22202240	227048381	2	4791											
LAMC2	3918	genome.wustl.edu	37	1	183212497	183212497	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr1:183212497C>G	ENST00000264144.4	+	23	3609	c.3544C>G	c.(3544-3546)Cca>Gca	p.P1182A		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1182	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.P1182A(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAACCTGCCCCCAGGCTGCTA	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											95	95	95					1																	183212497		2203	4300	6503	181479120	SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3544C>G	1.37:g.183212497C>G	ENSP00000264144:p.Pro1182Ala		181479120	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268777	0.59540	.	.	ENSG00000058085	ENST00000264144	T	0.15834	2.39	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000002	T	0.42086	0.1187	M	0.72118	2.19	0.43782	D	0.996313	D	0.89917	1.0	D	0.83275	0.996	T	0.09684	-1.0663	10	0.21540	T	0.41	.	19.165	0.93553	0.0:1.0:0.0:0.0	.	1182	Q13753	LAMC2_HUMAN	A	1182	ENSP00000264144:P1182A	ENSP00000264144:P1182A	P	+	1	0	LAMC2	181479120	0.329000	0.24696	1.000000	0.80357	0.978000	0.69477	2.338000	0.43957	2.519000	0.84933	0.655000	0.94253	CCA		0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		G	183212497	C	G	183212497	3	3	93	1	0	0	0	0	1	0	0	0	8615	623	22	3	3642	3	LAMC2	1	183212497	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	161010257	183212497	66038124	3	4792											
EPRS	2058	genome.wustl.edu	37	1	220162112	220162112	+	Silent	SNP	T	T	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr1:220162112T>C	ENST00000366923.3	-	19	2864	c.2595A>G	c.(2593-2595)aaA>aaG	p.K865K	snoU13_ENST00000459217.1_RNA	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	865	3 X 57 AA approximate repeats.|WHEP-TRS 2.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.K865K(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CAGTTTTTTCTTTATACTGAG	0.373																																																1	Substitution - coding silent(1)	ovary(1)	1											107	113	111					1																	220162112		2203	4299	6502	218228735	SO:0001819	synonymous_variant	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2595A>G	1.37:g.220162112T>C			218228735	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	CCDS31027.1																																																																																				0.373	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		C	220162112	T	C	220162112	2	2	93	1	0	0	0	0	0	0	0	1	5191	1606	56	4		4	EPRS	1	220162112	Silent	SNP	T	TCGA-13-0884-01B-01W-0494-09	36949615	220162112	29088509	4	4793											
ATL2	64225	genome.wustl.edu	37	2	38570462	38570462	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr2:38570462C>G	ENST00000378954.4	-	2	312	c.311G>C	c.(310-312)cGt>cCt	p.R104P	ATL2_ENST00000406122.1_Intron|ATL2_ENST00000486927.1_5'UTR|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000332337.4_Missense_Mutation_p.R86P|ATL2_ENST00000419554.2_Missense_Mutation_p.R104P|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000452935.2_Missense_Mutation_p.R86P|ATL2_ENST00000539122.1_Intron	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	104	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.R104P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTCCCTTTACGAAAAGCTCC	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											83	80	81					2																	38570462		2203	4300	6503	38423966	SO:0001583	missense	64225				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.311G>C	2.37:g.38570462C>G	ENSP00000368237:p.Arg104Pro		38423966	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	CCDS46260.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.055452|5.055452	0.93793|0.93793	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000378954;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000451483|ENST00000443098	T;T;T;T;T|.	0.62498|.	0.02;0.02;0.02;0.02;0.02|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Guanylate-binding protein, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88392|0.88392	0.6424|0.6424	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.91792|0.91792	0.5444|0.5444	10|5	0.87932|.	D|.	0|.	-14.1802|-14.1802	18.2906|18.2906	0.90129|0.90129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	86;86;104;104|.	B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9|.	.;.;.;ATLA2_HUMAN|.	P|L	104;86;104;86;141|103	ENSP00000368237:R104P;ENSP00000333393:R86P;ENSP00000415336:R104P;ENSP00000390743:R86P;ENSP00000404921:R141P|.	ENSP00000333393:R86P|.	R|V	-|-	2|1	0|0	ATL2|ATL2	38423966|38423966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.502000|7.502000	0.81614|0.81614	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.358	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		G	38570462	C	G	38570462	3	3	93	1	0	0	0	0	1	0	0	0	1107	536	19	3	1600	3	ATL2	2	38570462	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		38570462	204628911	5	4794											
ALMS1	7840	genome.wustl.edu	37	2	73716958	73716958	+	Silent	SNP	C	C	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr2:73716958C>A	ENST00000264448.6	+	10	7980	c.7869C>A	c.(7867-7869)gcC>gcA	p.A2623A	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Silent_p.A2581A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2623					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.A2623A(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATGCAGAGCCAAGCATGTCA	0.443																																																1	Substitution - coding silent(1)	ovary(1)	2											78	77	77					2																	73716958		1957	4149	6106	73570466	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7869C>A	2.37:g.73716958C>A			73570466	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.443	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73716958	C	A	73716958	2	1	93	1	0	0	0	0	0	0	0	1	535	581	21	3		3	ALMS1	2	73716958	Silent	SNP	C	TCGA-13-0884-01B-01W-0494-09	35146496	73716958	169482415	6	4795											
ACVR1	90	genome.wustl.edu	37	2	158594088	158594088	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr2:158594088C>G	ENST00000263640.3	-	11	1914	c.1485G>C	c.(1483-1485)ttG>ttC	p.L495F	ACVR1_ENST00000410057.2_Missense_Mutation_p.L495F|AC019186.1_ENST00000447019.1_lincRNA|ACVR1_ENST00000409283.2_Missense_Mutation_p.L495F|ACVR1_ENST00000434821.1_Missense_Mutation_p.L495F	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	495	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.L495F(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CAATTTTGGTCAAAGTCTTTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											141	127	132					2																	158594088		2203	4300	6503	158302334	SO:0001583	missense	90				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1485G>C	2.37:g.158594088C>G	ENSP00000263640:p.Leu495Phe		158302334		Missense_Mutation	SNP	ENST00000263640.3	37	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293388	0.60086	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	6.16	6.16	0.99307	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060701	0.64402	D	0.000002	D	0.97188	0.9081	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97145	0.9827	10	0.87932	D	0	.	13.9788	0.64291	0.0:0.9314:0.0:0.0686	.	495	Q04771	ACVR1_HUMAN	F	495	ENSP00000263640:L495F;ENSP00000387273:L495F;ENSP00000405004:L495F;ENSP00000387127:L495F	ENSP00000263640:L495F	L	-	3	2	ACVR1	158302334	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.387000	0.52501	2.937000	0.99478	0.650000	0.86243	TTG		0.408	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		G	158594088	C	G	158594088	3	3	93	1	0	0	0	0	1	0	0	0	220	825	29	3	48	3	ACVR1	2	158594088	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	84877130	158594088	84605285	7	4796											
HOXD10	3236	genome.wustl.edu	37	2	176983684	176983684	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr2:176983684G>A	ENST00000249501.4	+	2	1003	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	HOXD10_ENST00000490088.2_3'UTR|HOXD-AS2_ENST00000440016.2_RNA	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	250					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E250K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTTGTTAGAGGAAATCAAGTC	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											50	53	52					2																	176983684		2203	4300	6503	176691930	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.748G>A	2.37:g.176983684G>A	ENSP00000249501:p.Glu250Lys		176691930	Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328363	0.41197	.	.	ENSG00000128710	ENST00000249501	D	0.93547	-3.24	5.94	5.94	0.96194	Homeodomain-like (1);	0.093293	0.64402	D	0.000001	D	0.92870	0.7732	M	0.71581	2.175	0.45150	D	0.998168	P	0.36789	0.57	B	0.35114	0.196	D	0.91562	0.5265	10	0.38643	T	0.18	.	19.9695	0.97278	0.0:0.0:1.0:0.0	.	250	P28358	HXD10_HUMAN	K	250	ENSP00000249501:E250K	ENSP00000249501:E250K	E	+	1	0	HOXD10	176691930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.834000	0.69361	2.816000	0.96949	0.561000	0.74099	GAA		0.358	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			A	176983684	G	A	176983684	3	1	93	1	0	0	0	0	1	0	0	0	7319	1175	41	2	754	2	HOXD10	2	176983684	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	18389596	176983684	66215689	8	4797											
STAT1	6772	genome.wustl.edu	37	2	191839594	191839594	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr2:191839594C>G	ENST00000361099.3	-	24	2587	c.2200G>C	c.(2200-2202)Gtg>Ctg	p.V734L	STAT1_ENST00000409465.1_Missense_Mutation_p.V734L|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	734					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.V734L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			ATCCGAGACACCTCGTCAAAC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											138	117	124					2																	191839594		2203	4300	6503	191547839	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.2200G>C	2.37:g.191839594C>G	ENSP00000354394:p.Val734Leu		191547839	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	5.523	0.281421	0.10458	.	.	ENSG00000115415	ENST00000361099;ENST00000409465	D;D	0.92858	-3.12;-3.12	5.45	3.49	0.39957	Signal transducer and activation of transcription 1, TAZ2 binding domain, C-terminal (1);	0.325948	0.32819	N	0.005608	T	0.81394	0.4813	N	0.17082	0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73014	-0.4116	10	0.02654	T	1	.	11.0096	0.47654	0.138:0.7866:0.0:0.0754	.	734	P42224	STAT1_HUMAN	L	734	ENSP00000354394:V734L;ENSP00000386244:V734L	ENSP00000354394:V734L	V	-	1	0	STAT1	191547839	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.685000	0.46959	1.508000	0.48769	0.655000	0.94253	GTG		0.498	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		G	191839594	C	G	191839594	3	3	93	1	0	0	0	0	1	0	0	0	15266	507	18	3	60	3	STAT1	2	191839594	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	14855910	191839594	51359779	9	4798											
BMPR2	659	genome.wustl.edu	37	2	203424473	203424473	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr2:203424473G>C	ENST00000374580.4	+	13	3460	c.2921G>C	c.(2920-2922)cGt>cCt	p.R974P	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	974					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.R974P(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATCAAGAAACGTGTGAAAACT	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											98	93	95					2																	203424473		2203	4300	6503	203132718	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2921G>C	2.37:g.203424473G>C	ENSP00000363708:p.Arg974Pro		203132718	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337548	0.81911	.	.	ENSG00000204217	ENST00000374580	D	0.95103	-3.61	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95784	0.8628	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96325	0.9239	10	0.87932	D	0	.	19.7342	0.96195	0.0:0.0:1.0:0.0	.	974	Q13873	BMPR2_HUMAN	P	974	ENSP00000363708:R974P	ENSP00000363708:R974P	R	+	2	0	BMPR2	203132718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.670000	0.98625	2.686000	0.91538	0.650000	0.86243	CGT		0.428	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		C	203424473	G	C	203424473	3	2	93	1	0	0	0	0	1	0	0	0	1471	1145	40	3	2971	3	BMPR2	2	203424473	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	11584879	203424473	39774900	10	4799											
AGFG1	3267	genome.wustl.edu	37	2	228418450	228418450	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr2:228418450A>G	ENST00000310078.8	+	12	1828	c.1568A>G	c.(1567-1569)aAg>aGg	p.K523R	AGFG1_ENST00000373671.3_Missense_Mutation_p.K483R|AGFG1_ENST00000409979.2_Missense_Mutation_p.K545R|AGFG1_ENST00000409315.1_Missense_Mutation_p.K502R|AGFG1_ENST00000409171.1_Missense_Mutation_p.K521R	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	523					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K523R(1)|p.T522fs*3(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GGACAAACAAAGCCAGTAGTA	0.348																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|central_nervous_system(1)	2											102	109	107					2																	228418450		2203	4300	6503	228126694	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1568A>G	2.37:g.228418450A>G	ENSP00000312059:p.Lys523Arg		228126694	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	CCDS2467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.500134|4.500134	0.85176|0.85176	.|.	.|.	ENSG00000173744|ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171|ENST00000458212	T;T;T;T;T|.	0.32272|.	1.6;1.61;1.46;1.66;1.66|.	5.75|5.75	4.58|4.58	0.56647|0.56647	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69088|0.69088	0.3072|0.3072	M|M	0.62723|0.62723	1.935|1.935	0.46356|0.46356	D|D	0.999|0.999	D;B;D;D|.	0.76494|.	0.998;0.392;0.997;0.999|.	D;B;D;P|.	0.80764|.	0.994;0.124;0.98;0.874|.	T|T	0.66925|0.66925	-0.5800|-0.5800	10|5	0.26408|.	T|.	0.33|.	.|.	13.0852|13.0852	0.59135|0.59135	0.8659:0.1341:0.0:0.0|0.8659:0.1341:0.0:0.0	.|.	483;521;545;523|.	P52594-2;P52594-3;E9PHX7;P52594|.	.;.;.;AGFG1_HUMAN|.	R|G	545;530;523;502;483;521|93	ENSP00000387282:K545R;ENSP00000312059:K523R;ENSP00000387154:K502R;ENSP00000362775:K483R;ENSP00000387218:K521R|.	ENSP00000312059:K523R|.	K|S	+|+	2|1	0|0	AGFG1|AGFG1	228126694|228126694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.641000|6.641000	0.74324|0.74324	0.983000|0.983000	0.38602|0.38602	0.482000|0.482000	0.46254|0.46254	AAG|AGC		0.348	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		G	228418450	A	G	228418450	3	3	93	1	0	0	0	0	1	0	0	0	380	72	3	4	1690	4	AGFG1	2	228418450	Missense_Mutation	SNP	A	TCGA-13-0884-01B-01W-0494-09	24993977	228418450	14780923	11	4800											
COL6A3	1293	genome.wustl.edu	37	2	238243270	238243270	+	Splice_Site	SNP	T	T	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr2:238243270T>G	ENST00000295550.4	-	41	9680	c.9228A>C	c.(9226-9228)acA>acC	p.T3076T	COL6A3_ENST00000346358.4_Splice_Site_p.T2876T|COL6A3_ENST00000353578.4_Splice_Site_p.T2870T|COL6A3_ENST00000409809.1_Splice_Site_p.T2870T|COL6A3_ENST00000347401.3_Splice_Site_p.T2875T|COL6A3_ENST00000472056.1_Splice_Site_p.T2469T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3076	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T3076T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTACTTACTTGTACTGAAAC	0.453																																																1	Substitution - coding silent(1)	ovary(1)	2											68	57	60					2																	238243270		2203	4300	6503	237908009	SO:0001630	splice_region_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9229+1A>C	2.37:g.238243270T>G			237908009	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.453	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Silent	G	238243270	T	G	238243270	5	3	93	1	0	0	0	0	0	0	1	0	3701	1826	63	5	321	5	COL6A3	2	238243270	Splice_Site	SNP	T	TCGA-13-0884-01B-01W-0494-09	9824820	238243270	4956103	12	4801											
XIRP1	165904	genome.wustl.edu	37	3	39229303	39229303	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr3:39229303C>G	ENST00000340369.3	-	2	1862	c.1634G>C	c.(1633-1635)gGg>gCg	p.G545A	XIRP1_ENST00000396251.1_Missense_Mutation_p.G545A|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	545	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.G545A(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCAACGTCCCCAGCCACCAC	0.602																																																1	Substitution - Missense(1)	ovary(1)	3											52	52	52					3																	39229303		2203	4300	6503	39204307	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1634G>C	3.37:g.39229303C>G	ENSP00000343140:p.Gly545Ala		39204307	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839466	0.71488	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.68479	-0.33;-0.33	5.17	4.28	0.50868	.	0.111989	0.64402	D	0.000010	T	0.79986	0.4541	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.81745	-0.0792	10	0.87932	D	0	.	11.0691	0.47993	0.0:0.9097:0.0:0.0903	.	545;545	Q702N8;Q702N8-2	XIRP1_HUMAN;.	A	545	ENSP00000379550:G545A;ENSP00000343140:G545A	ENSP00000343140:G545A	G	-	2	0	XIRP1	39204307	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	3.735000	0.55044	2.583000	0.87209	0.655000	0.94253	GGG		0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		G	39229303	C	G	39229303	3	3	93	1	0	0	0	0	1	0	0	0	17429	623	22	3	3901	3	XIRP1	3	39229303	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		39229303	158793127	13	4802											
UBXN7	26043	genome.wustl.edu	37	3	196094997	196094997	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr3:196094997C>A	ENST00000296328.4	-	8	810	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	UBXN7_ENST00000535858.1_Missense_Mutation_p.D98Y|UBXN7_ENST00000428095.1_Missense_Mutation_p.D84Y	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	246						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.D246Y(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAAGATACATCTAACTGGTGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											86	79	81					3																	196094997		1841	4087	5928	197579394	SO:0001583	missense	26043			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"UBX domain containing"	29119	protein-coding gene	gene with protein product			"UBX domain containing 7"	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.736G>T	3.37:g.196094997C>A	ENSP00000296328:p.Asp246Tyr		197579394	D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474331	0.84640	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	T;T;T	0.48522	0.81;0.81;0.81	5.29	5.29	0.74685	UAS (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.60919	-0.7167	10	0.66056	D	0.02	-16.725	19.1204	0.93360	0.0:1.0:0.0:0.0	.	246	O94888	UBXN7_HUMAN	Y	246;84;98	ENSP00000296328:D246Y;ENSP00000397256:D84Y;ENSP00000440716:D98Y	ENSP00000296328:D246Y	D	-	1	0	UBXN7	197579394	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.674000	0.74487	2.734000	0.93682	0.655000	0.94253	GAT		0.403	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		A	196094997	C	A	196094997	3	1	93	1	0	0	0	0	1	0	0	0	16918	913	32	3	749	3	UBXN7	3	196094997	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	156865694	196094997	1927433	14	4803											
HTT	3064	genome.wustl.edu	37	4	3129256	3129256	+	Silent	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr4:3129256G>A	ENST00000355072.5	+	12	1813	c.1668G>A	c.(1666-1668)tcG>tcA	p.S556S		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	556					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.S556S(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGCCTCGTCGCCCATCAGCG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	4											53	58	57					4																	3129256		2054	4188	6242	3099054	SO:0001819	synonymous_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1668G>A	4.37:g.3129256G>A			3099054	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.587	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3129256	G	A	3129256	2	1	93	1	0	0	0	0	0	0	0	1	7457	1074	38	1		1	HTT	4	3129256	Silent	SNP	G	TCGA-13-0884-01B-01W-0494-09		3129256	188025020	15	4804											
SLC34A2	10568	genome.wustl.edu	37	4	25671403	25671403	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr4:25671403G>C	ENST00000382051.3	+	7	820	c.770G>C	c.(769-771)gGa>gCa	p.G257A	SLC34A2_ENST00000504570.1_Missense_Mutation_p.G256A|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G256A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	257					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.G257A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCAAGAATGGAGAAGATGCC	0.493			T	ROS1	NSCLC																																		Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	1	Substitution - Missense(1)	ovary(1)	4											200	196	197					4																	25671403		2203	4300	6503	25280501	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.770G>C	4.37:g.25671403G>C	ENSP00000371483:p.Gly257Ala		25280501	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007825	0.54361	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.26223	1.75;1.75;1.75	5.39	3.66	0.41972	.	0.048173	0.85682	D	0.000000	T	0.54029	0.1833	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.983	T	0.57051	-0.7877	10	0.37606	T	0.19	-5.1239	11.9635	0.53021	0.1413:0.0:0.8587:0.0	.	256;257	O95436-2;O95436	.;NPT2B_HUMAN	A	256;257;256	ENSP00000425501:G256A;ENSP00000371483:G257A;ENSP00000423021:G256A	ENSP00000371483:G257A	G	+	2	0	SLC34A2	25280501	1.000000	0.71417	0.974000	0.42286	0.198000	0.23893	9.491000	0.97954	0.766000	0.33244	0.561000	0.74099	GGA		0.493	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		C	25671403	G	C	25671403	3	2	93	1	0	0	0	0	1	0	0	0	14571	1174	41	3	792	3	SLC34A2	4	25671403	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	22542147	25671403	165482873	16	4805											
ANTXR2	118429	genome.wustl.edu	37	4	80952837	80952837	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr4:80952837G>A	ENST00000307333.7	-	10	808	c.806C>T	c.(805-807)cCa>cTa	p.P269L	ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000404191.1_Missense_Mutation_p.P192L|ANTXR2_ENST00000403729.2_Missense_Mutation_p.P269L|ANTXR2_ENST00000295465.4_Missense_Mutation_p.P269L	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	269					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.P269L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TACACTTACTGGTTTTACACC	0.313									Juvenile Hyaline Fibromatosis																																							1	Substitution - Missense(1)	ovary(1)	4											47	46	46					4																	80952837		1816	4066	5882	81171861	SO:0001583	missense	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.806C>T	4.37:g.80952837G>A	ENSP00000306185:p.Pro269Leu		81171861	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027456	0.54683	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000307333;ENST00000295465	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.05	5.05	0.67936	Anthrax toxin receptor, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	M	0.83774	2.66	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98012	1.0366	10	0.72032	D	0.01	-6.3248	18.796	0.91994	0.0:0.0:1.0:0.0	.	269;269	P58335;P58335-4	ANTR2_HUMAN;.	L	269;192;269;269	ENSP00000385575:P269L;ENSP00000384028:P192L;ENSP00000306185:P269L;ENSP00000295465:P269L	ENSP00000295465:P269L	P	-	2	0	ANTXR2	81171861	1.000000	0.71417	0.961000	0.40146	0.160000	0.22226	7.349000	0.79376	2.491000	0.84063	0.557000	0.71058	CCA		0.313	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		A	80952837	G	A	80952837	3	1	93	1	0	0	0	0	1	0	0	0	712	1348	47	2	734	2	ANTXR2	4	80952837	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	55281434	80952837	110201439	17	4806											
BANK1	55024	genome.wustl.edu	37	4	102751175	102751175	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr4:102751175C>T	ENST00000322953.4	+	2	555	c.281C>T	c.(280-282)aCt>aTt	p.T94I	BANK1_ENST00000504592.1_Missense_Mutation_p.T79I|BANK1_ENST00000444316.2_Missense_Mutation_p.T64I|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	94	Interaction with ITPR2.				B cell activation (GO:0042113)			p.T94I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGAGACCTAACTCCAAAGAAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											73	75	75					4																	102751175		2203	4300	6503	102970198	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.281C>T	4.37:g.102751175C>T	ENSP00000320509:p.Thr94Ile		102970198	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032478	0.54790	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.09538	2.97;2.97;2.97	5.18	4.28	0.50868	.	0.355038	0.24405	N	0.038805	T	0.18087	0.0434	L	0.50333	1.59	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.58331	0.837;0.837	T	0.01090	-1.1455	10	0.25751	T	0.34	.	7.8461	0.29426	0.2853:0.574:0.1407:0.0	.	94;79	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	I	79;94;64	ENSP00000421443:T79I;ENSP00000320509:T94I;ENSP00000388817:T64I	ENSP00000320509:T94I	T	+	2	0	BANK1	102970198	0.920000	0.31207	0.995000	0.50966	0.997000	0.91878	1.808000	0.38912	2.407000	0.81776	0.650000	0.86243	ACT		0.358	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		T	102751175	C	T	102751175	3	4	93	1	0	0	0	0	1	0	0	0	1309	565	20	2	287	2	BANK1	4	102751175	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	21798338	102751175	88403101	18	4807											
ADAMTS16	170690	genome.wustl.edu	37	5	5186163	5186163	+	Splice_Site	SNP	A	A	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr5:5186163A>G	ENST00000274181.7	+	5	901		c.e5-1		ADAMTS16_ENST00000511368.1_Splice_Site	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTCCCTCCATAGACATGCCCC	0.468																																																2	Unknown(2)	ovary(2)	5											175	173	174					5																	5186163		1957	4160	6117	5239163	SO:0001630	splice_region_variant	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.764-1A>G	5.37:g.5186163A>G			5239163	C6G490|Q8IVE2	Splice_Site	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711677	0.68730	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3756	0.66874	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS16	5239163	1.000000	0.71417	0.989000	0.46669	0.721000	0.41392	8.152000	0.89638	2.034000	0.60081	0.533000	0.62120	.		0.468	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	Intron	G	5186163	A	G	5186163	5	3	93	1	0	0	0	0	0	0	1	0	261	434	15	4	780	4	ADAMTS16	5	5186163	Splice_Site	SNP	A	TCGA-13-0884-01B-01W-0494-09		5186163	175729097	19	4808											
ZNF608	57507	genome.wustl.edu	37	5	123984308	123984308	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr5:123984308T>A	ENST00000306315.5	-	4	2204	c.1769A>T	c.(1768-1770)gAc>gTc	p.D590V	ZNF608_ENST00000504926.1_Missense_Mutation_p.D163V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	590							metal ion binding (GO:0046872)	p.D590V(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GTCCTCACTGTCAGGCTCGAA	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											234	199	210					5																	123984308		2203	4300	6503	124012207	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1769A>T	5.37:g.123984308T>A	ENSP00000307746:p.Asp590Val		124012207	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454512	0.63290	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.61510	0.1;0.12	5.6	5.6	0.85130	.	0.196214	0.52532	D	0.000078	T	0.69584	0.3127	M	0.67397	2.05	0.80722	D	1	P	0.50272	0.933	P	0.55303	0.773	T	0.71998	-0.4423	10	0.54805	T	0.06	-28.9427	15.8007	0.78453	0.0:0.0:0.0:1.0	.	590	Q9ULD9	ZN608_HUMAN	V	163;590;590;590	ENSP00000427657:D163V;ENSP00000307746:D590V	ENSP00000307746:D590V	D	-	2	0	ZNF608	124012207	1.000000	0.71417	0.938000	0.37757	0.951000	0.60555	8.023000	0.88764	2.126000	0.65437	0.445000	0.29226	GAC		0.483	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		A	123984308	T	A	123984308	3	1	93	1	0	0	0	0	1	0	0	0	18034	1667	58	5	2793	5	ZNF608	5	123984308	Missense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09	118798145	123984308	56930952	20	4809											
PCDHA2	56146	genome.wustl.edu	37	5	140174571	140174571	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr5:140174571G>C	ENST00000526136.1	+	1	22	c.22G>C	c.(22-24)Ggc>Cgc	p.G8R	PCDHA2_ENST00000378132.1_Missense_Mutation_p.G8R|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G8R	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	8					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G8R(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCAGAAGGGGCCGAGGGGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	5											41	49	46					5																	140174571		2203	4300	6503	140154755	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.22G>C	5.37:g.140174571G>C	ENSP00000431748:p.Gly8Arg		140154755	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	12.76	2.035763	0.35893	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.51325	0.79;0.71;0.75	4.02	2.19	0.27852	.	0.567765	0.14553	U	0.312575	T	0.40619	0.1124	N	0.16708	0.43	0.09310	N	1	B;B;P	0.43909	0.004;0.026;0.821	B;B;P	0.55455	0.011;0.031;0.776	T	0.25537	-1.0129	10	0.13470	T	0.59	.	7.8655	0.29535	0.2684:0.0:0.7316:0.0	.	8;8;8	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	R	8	ENSP00000430584:G8R;ENSP00000367372:G8R;ENSP00000431748:G8R	ENSP00000367372:G8R	G	+	1	0	PCDHA2	140154755	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.503000	0.22610	0.454000	0.26884	0.556000	0.70494	GGC		0.522	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		C	140174571	G	C	140174571	3	2	93	1	0	0	0	0	1	0	0	0	11524	1232	43	3	24	3	PCDHA2	5	140174571	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	16190263	140174571	40740689	21	4810											
PCDHB16	57717	genome.wustl.edu	37	5	140562641	140562641	+	Silent	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr5:140562641C>T	ENST00000361016.2	+	1	1662	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.N169N(1)		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)			ATGTTCAAAACTATAAAATCA	0.423																																																1	Substitution - coding silent(1)	ovary(1)	5											42	45	44					5																	140562641		2200	4299	6499	140542825	SO:0001819	synonymous_variant	57717			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	ENST00000361016.2:c.507C>T	5.37:g.140562641C>T			140542825	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.423	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140562641	C	T	140562641	2	4	93	1	0	0	0	0	0	0	0	1	11541	564	20	2		2	PCDHB16	5	140562641	Silent	SNP	C	TCGA-13-0884-01B-01W-0494-09	388070	140562641	40352619	22	4811											
HMP19	51617	genome.wustl.edu	37	5	173534384	173534384	+	Missense_Mutation	SNP	G	G	A	rs147555850		TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr5:173534384G>A	ENST00000303177.3	+	5	654	c.392G>A	c.(391-393)cGc>cAc	p.R131H	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		131					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R131H(1)									TCCAGAAGCCGCTTCTACACA	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		12913	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5						G	HIS/ARG	0,4406		0,0,2203	65	66	66		392	5.2	1	5	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	missense	HMP19	NM_015980.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	131/172	173534384	2,13004	2203	4300	6503	173466990	SO:0001583	missense	51617																														ENST00000303177.3:c.392G>A	5.37:g.173534384G>A	ENSP00000307722:p.Arg131His		173466990	B2R5Y0|D3DQN0|Q9UHX8	Missense_Mutation	SNP	ENST00000303177.3	37	CCDS4391.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048768	0.93740	0.0	2.33E-4	ENSG00000170091	ENST00000303177;ENST00000519867;ENST00000521278;ENST00000519717	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.80439	-0.1382	9	0.66056	D	0.02	-16.7602	18.7667	0.91876	0.0:0.0:1.0:0.0	.	131	Q9Y328	NSG2_HUMAN	H	131	.	ENSP00000307722:R131H	R	+	2	0	AC011333.1	173466990	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.098000	0.94202	2.425000	0.82216	0.561000	0.74099	CGC		0.592	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			A	173534384	G	A	173534384	3	1	93	1	0	0	0	0	1	0	0	0	7245	1087	38	1	406	1	HMP19	5	173534384	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	32971743	173534384	7380876	23	4812											
GPX6	257202	genome.wustl.edu	37	6	28474135	28474135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr6:28474135C>A	ENST00000474923.1	-	3	356	c.313G>T	c.(313-315)Gga>Tga	p.G105*	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000361902.1_Nonsense_Mutation_p.G105*			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	105					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.G105*(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TCTTGTTTTCCAAACTGGTTG	0.468																																																1	Substitution - Nonsense(1)	ovary(1)	6											96	107	103					6																	28474135		2077	4258	6335	28582114	SO:0001587	stop_gained	257202				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"glutathione peroxidase pseudogene 3"	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.313G>T	6.37:g.28474135C>A	ENSP00000417364:p.Gly105*		28582114	Q4PJ17	Nonsense_Mutation	SNP	ENST00000474923.1	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.936978	0.73557	.	.	ENSG00000198704	ENST00000361902;ENST00000474923	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.6776	0.56903	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000354581:G105X	G	-	1	0	GPX6	28582114	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.644000	0.74338	2.687000	0.91594	0.655000	0.94253	GGA		0.468	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5			A	28474135	C	A	28474135	4	1	93	1	0	0	0	0	0	1	0	0	6744	603	21	3	364	3	GPX6	6	28474135	Nonsense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		28474135	142640932	24	4813											
CDSN	170679	genome.wustl.edu	37	6	31083820	31083820	+	Intron	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr6:31083820C>G	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Missense_Mutation_p.E524D	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1									p.E524D(1)		kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGTTGAGTAACTCTCCTTGGG	0.527																																																1	Substitution - Missense(1)	ovary(1)	6											52	50	51					6																	31083820		1809	3622	5431	31191799	SO:0001627	intron_variant	1041			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1152C>G	6.37:g.31083820C>G			31191799	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	C	0.349	-0.945945	0.02304	.	.	ENSG00000204539	ENST00000376288	T	0.06768	3.26	4.16	1.2	0.21068	.	0.318910	0.22472	N	0.059620	T	0.01061	0.0035	N	0.11560	0.145	0.09310	N	0.999999	B	0.13594	0.008	B	0.11329	0.006	T	0.47724	-0.9095	10	0.27785	T	0.31	-5.6147	4.74	0.13008	0.38:0.5137:0.0:0.1063	.	524	Q15517	CDSN_HUMAN	D	524	ENSP00000365465:E524D	ENSP00000365465:E524D	E	-	3	2	CDSN	31191799	0.581000	0.26741	0.096000	0.21009	0.106000	0.19336	1.160000	0.31761	0.108000	0.17862	0.523000	0.50628	GAG		0.527	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		G	31083820	C	G	31083820	1	3	93	0	1	0	0	0	0	0	0	0	3179	564	20	3		3	CDSN	6	31083820	Intron	SNP	C	TCGA-13-0884-01B-01W-0494-09	2609685	31083820	140031247	25	4814											
TDRD6	221400	genome.wustl.edu	37	6	46658791	46658791	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr6:46658791T>C	ENST00000316081.6	+	1	2926	c.2926T>C	c.(2926-2928)Ttc>Ctc	p.F976L	TDRD6_ENST00000544460.1_Missense_Mutation_p.F976L|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	976					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.F976L(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ACATTCCTACTTCTATTCTAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											55	61	59					6																	46658791		2203	4300	6503	46766750	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2926T>C	6.37:g.46658791T>C	ENSP00000346065:p.Phe976Leu		46766750	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111415	0.56398	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.13657	2.57;2.58	5.74	5.74	0.90152	.	0.435822	0.27206	N	0.020422	T	0.06371	0.0164	L	0.46157	1.445	0.37724	D	0.92501	B;B	0.31274	0.317;0.212	B;B	0.30572	0.117;0.055	T	0.18935	-1.0321	10	0.15066	T	0.55	-1.6617	16.0326	0.80588	0.0:0.0:0.0:1.0	.	976;976	F5H5M3;O60522	.;TDRD6_HUMAN	L	976	ENSP00000443299:F976L;ENSP00000346065:F976L	ENSP00000346065:F976L	F	+	1	0	TDRD6	46766750	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.579000	0.82511	2.185000	0.69588	0.528000	0.53228	TTC		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		C	46658791	T	C	46658791	3	2	93	1	0	0	0	0	1	0	0	0	15734	1609	56	4	2928	4	TDRD6	6	46658791	Missense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09	15574971	46658791	124456276	26	4815											
LMBRD1	55788	genome.wustl.edu	37	6	70407490	70407490	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr6:70407490G>A	ENST00000370577.3	-	14	1611	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	LMBRD1_ENST00000370570.1_Missense_Mutation_p.S388F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	461					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S461F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CTTTGGCACAGAAAGGGTTGA	0.313																																																1	Substitution - Missense(1)	ovary(1)	6											106	106	106					6																	70407490		2203	4300	6503	70464211	SO:0001583	missense	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1382C>T	6.37:g.70407490G>A	ENSP00000359609:p.Ser461Phe		70464211	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	G	9.318	1.057315	0.19907	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.18338	2.22;2.22	5.71	3.93	0.45458	.	0.590771	0.20063	N	0.100027	T	0.02418	0.0074	N	0.16478	0.41	0.21386	N	0.999709	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	10	0.09338	T	0.73	-1.6191	7.3492	0.26680	0.1546:0.141:0.7044:0.0	.	461	Q9NUN5	LMBD1_HUMAN	F	461;388	ENSP00000359609:S461F;ENSP00000359602:S388F	ENSP00000359602:S388F	S	-	2	0	LMBRD1	70464211	0.058000	0.20735	0.928000	0.36995	0.920000	0.55202	0.553000	0.23391	1.432000	0.47375	-0.143000	0.13931	TCT		0.313	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		A	70407490	G	A	70407490	3	1	93	1	0	0	0	0	1	0	0	0	8842	942	33	2	252	2	LMBRD1	6	70407490	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	23748699	70407490	100707577	27	4816											
CTTNBP2	83992	genome.wustl.edu	37	7	117351733	117351733	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr7:117351733C>G	ENST00000160373.3	-	23	4941	c.4850G>C	c.(4849-4851)aGa>aCa	p.R1617T	CFTR_ENST00000608965.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1617					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.R1617T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GACTTTACTTCTAGGAACAGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	7											184	164	171					7																	117351733		2203	4300	6503	117138969	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4850G>C	7.37:g.117351733C>G	ENSP00000160373:p.Arg1617Thr		117138969	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.38|15.38	2.815233|2.815233	0.50527|0.50527	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.67865|.	-0.29|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.096825|.	0.64402|.	D|.	0.000001|.	T|.	0.77785|.	0.4182|.	M|M	0.83483|0.83483	2.645|2.645	0.44643|0.44643	D|D	0.997625|0.997625	P|.	0.42078|.	0.77|.	B|.	0.37550|.	0.253|.	T|.	0.78868|.	-0.2034|.	10|.	0.72032|.	D|.	0.01|.	-13.1014|-13.1014	14.3844|14.3844	0.66934|0.66934	0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702	.|.	1617|.	Q8WZ74|.	CTTB2_HUMAN|.	T|Y	1617|1104	ENSP00000160373:R1617T|.	ENSP00000160373:R1617T|.	R|X	-|-	2|3	0|2	CTTNBP2|CTTNBP2	117138969|117138969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.888000|1.888000	0.39708|0.39708	2.770000|2.770000	0.95276|0.95276	0.650000|0.650000	0.86243|0.86243	AGA|TAG		0.408	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		G	117351733	C	G	117351733	3	3	93	1	0	0	0	0	1	0	0	0	4045	913	32	3	145	3	CTTNBP2	7	117351733	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		117351733	41786930	28	4817											
TNPO3	23534	genome.wustl.edu	37	7	128655107	128655107	+	Silent	SNP	G	G	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr7:128655107G>T	ENST00000265388.5	-	4	621	c.478C>A	c.(478-480)Cga>Aga	p.R160R	TNPO3_ENST00000393245.1_Silent_p.R160R|TNPO3_ENST00000471234.1_Silent_p.R160R|TNPO3_ENST00000482320.1_Silent_p.R94R|TNPO3_ENST00000471166.1_Silent_p.R160R			Q9Y5L0	TNPO3_HUMAN	transportin 3	160					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)	p.R160R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCTCCAATTCGTAAGGAACGA	0.378																																					Pancreas(147;583 2585 39696 52331)											1	Substitution - coding silent(1)	ovary(1)	7											114	104	107					7																	128655107		2203	4300	6503	128442343	SO:0001819	synonymous_variant	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.478C>A	7.37:g.128655107G>T			128442343	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	CCDS5809.1																																																																																				0.378	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		T	128655107	G	T	128655107	2	4	93	1	0	0	0	0	0	0	0	1	16337	1153	40	3		3	TNPO3	7	128655107	Silent	SNP	G	TCGA-13-0884-01B-01W-0494-09	11303374	128655107	30483556	29	4818											
HIPK2	28996	genome.wustl.edu	37	7	139299210	139299210	+	Silent	SNP	G	G	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr7:139299210G>C	ENST00000406875.3	-	8	1906	c.1812C>G	c.(1810-1812)tcC>tcG	p.S604S	HIPK2_ENST00000342645.6_Silent_p.S604S|HIPK2_ENST00000428878.2_Intron	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	604	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.S604S(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GATTGGCTAAGGAAATAGTGG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	7											72	73	73					7																	139299210		1920	4126	6046	138949750	SO:0001819	synonymous_variant	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1812C>G	7.37:g.139299210G>C			138949750	Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37																																																																																					0.502	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		C	139299210	G	C	139299210	2	2	93	1	0	0	0	0	0	0	0	1	7117	987	35	3		3	HIPK2	7	139299210	Silent	SNP	G	TCGA-13-0884-01B-01W-0494-09	10644103	139299210	19839453	30	4819											
ADAM32	203102	genome.wustl.edu	37	8	39068780	39068780	+	Silent	SNP	G	G	A	rs201298341		TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr8:39068780G>A	ENST00000379907.4	+	12	1297	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	390						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P389P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAAAATCTCCGAAACCAGTCT	0.358													G|||	1	0.000199681	8e-04	0	5008	,	,		15934	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	8											59	56	57					8																	39068780		1819	4084	5903	39187937	SO:0001819	synonymous_variant	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1170G>A	8.37:g.39068780G>A			39187937	Q8TC42	Silent	SNP	ENST00000379907.4	37	CCDS47846.1																																																																																				0.358	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		A	39068780	G	A	39068780	2	1	93	1	0	0	0	0	0	0	0	1	249	1045	37	1		1	ADAM32	8	39068780	Silent	SNP	G	TCGA-13-0884-01B-01W-0494-09		39068780	107295242	31	4820											
CLVS1	157807	genome.wustl.edu	37	8	62212549	62212549	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr8:62212549C>G	ENST00000519846.1	+	3	635	c.163C>G	c.(163-165)Caa>Gaa	p.Q55E	CLVS1_ENST00000325897.4_Missense_Mutation_p.Q55E|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	55					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.Q55E(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGATATTCAGCAAGTCAGGGA	0.463																																																1	Substitution - Missense(1)	ovary(1)	8											118	102	108					8																	62212549		2203	4300	6503	62375103	SO:0001583	missense	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.163C>G	8.37:g.62212549C>G	ENSP00000428402:p.Gln55Glu		62375103	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	5.616	0.298435	0.10622	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	D;D	0.83992	-1.79;-1.79	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	N	0.11000	0.08	0.58432	D	0.999998	B;B;B	0.11235	0.004;0.001;0.0	B;B;B	0.11329	0.006;0.002;0.002	T	0.65475	-0.6159	10	0.02654	T	1	-1.9742	20.0313	0.97540	0.0:1.0:0.0:0.0	.	55;55;55	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	E	55	ENSP00000428402:Q55E;ENSP00000325506:Q55E	ENSP00000325506:Q55E	Q	+	1	0	CLVS1	62375103	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.417000	0.52714	2.746000	0.94184	0.655000	0.94253	CAA		0.463	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		G	62212549	C	G	62212549	3	3	93	1	0	0	0	0	1	0	0	0	3571	711	25	3	165	3	CLVS1	8	62212549	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	23143769	62212549	84151473	32	4821											
ZFHX4	79776	genome.wustl.edu	37	8	77767042	77767042	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr8:77767042A>C	ENST00000521891.2	+	10	8333	c.7885A>C	c.(7885-7887)Aat>Cat	p.N2629H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N2584H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N2584H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N2603H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N2613H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTGGATTCCAATCCTACCAG	0.483										HNSCC(33;0.089)																																						1	Substitution - Missense(1)	ovary(1)	8											39	39	39					8																	77767042		1860	4095	5955	77929597	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7885A>C	8.37:g.77767042A>C	ENSP00000430497:p.Asn2629His		77929597	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.17	1.559505	0.27827	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47093	U	0.000246	D	0.96442	0.8839	L	0.39147	1.195	0.80722	D	1	D;D;P	0.57571	0.98;0.976;0.941	P;P;P	0.60473	0.875;0.802;0.755	D	0.96857	0.9629	10	0.59425	D	0.04	.	15.4359	0.75146	1.0:0.0:0.0:0.0	.	2584;2584;2629	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2629;2613;2584;2584;2603	ENSP00000430497:N2629H;ENSP00000399605:N2584H;ENSP00000050961:N2584H;ENSP00000430848:N2603H	ENSP00000050961:N2584H	N	+	1	0	ZFHX4	77929597	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	9.139000	0.94554	2.230000	0.72887	0.528000	0.53228	AAT		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77767042	A	C	77767042	3	2	93	1	0	0	0	0	1	0	0	0	17635	130	5	5	7919	5	ZFHX4	8	77767042	Missense_Mutation	SNP	A	TCGA-13-0884-01B-01W-0494-09	15554493	77767042	68596980	33	4822											
CSMD3	114788	genome.wustl.edu	37	8	113694760	113694760	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr8:113694760C>T	ENST00000297405.5	-	16	2832	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G863E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G823E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G759E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	863	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G863E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTAATAAATCCTTCTTCACA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											125	123	124					8																	113694760		2203	4300	6503	113763936	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2588G>A	8.37:g.113694760C>T	ENSP00000297405:p.Gly863Glu		113763936	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002593	0.93227	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.68	5.68	0.88126	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.91901	0.7436	H	0.94264	3.515	0.52501	D	0.999951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93134	0.6535	10	0.59425	D	0.04	.	19.7925	0.96464	0.0:1.0:0.0:0.0	.	759;863;823	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	823;863;203;759;863	ENSP00000345799:G823E;ENSP00000297405:G863E;ENSP00000341558:G203E;ENSP00000412263:G759E;ENSP00000343124:G863E	ENSP00000297405:G863E	G	-	2	0	CSMD3	113763936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.681000	0.91329	0.650000	0.86243	GGA		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113694760	C	T	113694760	3	4	93	1	0	0	0	0	1	0	0	0	3946	855	30	2	8759	2	CSMD3	8	113694760	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	35927718	113694760	32669262	34	4823											
C8orf76	84933	genome.wustl.edu	37	8	124243568	124243578	+	Frame_Shift_Del	DEL	TCAGCTGAGTC	TCAGCTGAGTC	-	rs113006115		TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	TCAGCTGAGTC	TCAGCTGAGTC	TCAGCTGAGTC	-	TCAGCTGAGTC	TCAGCTGAGTC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr8:124243568_124243578delTCAGCTGAGTC	ENST00000276704.4	-	4	828_838	c.777_787delGACTCAGCTGA	c.(775-789)gagactcagctgaaafs	p.TQLK260fs	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Frame_Shift_Del_p.TQLK228fs	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	260								p.T260fs*35(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCACATGCTTTCAGCTGAGTCTCTATCAACA	0.389																																																1	Deletion - Frameshift(1)	ovary(1)	8																																								124312759	SO:0001589	frameshift_variant	84933			AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.777_787delGACTCAGCTGA	8.37:g.124243568_124243578delTCAGCTGAGTC	ENSP00000276704:p.Thr260fs		124312749	Q53HC1	Frame_Shift_Del	DEL	ENST00000276704.4	37	CCDS6341.1																																																																																				0.389	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		-	124243578	TCAGCTGAGTC	-	124243568	7	5	93	1	0	1	0	1	0	0	0	0	2437	1792	62	0	367	0	C8orf76	8	124243568	Frame_Shift_Del	DEL	TCAGCTGAGTC	TCGA-13-0884-01B-01W-0494-09	10548808	124243568	22120454	35	4824											
EFR3A	23167	genome.wustl.edu	37	8	132957037	132957037	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr8:132957037G>C	ENST00000254624.5	+	3	358	c.133G>C	c.(133-135)Gta>Cta	p.V45L	EFR3A_ENST00000519656.1_Missense_Mutation_p.V9L|EFR3A_ENST00000334503.4_Missense_Mutation_p.V45L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	45						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.V45L(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)			ATTTTATGCAGTATCTGCTCC	0.358																																																1	Substitution - Missense(1)	ovary(1)	8											95	89	91					8																	132957037		2203	4298	6501	133026219	SO:0001583	missense	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.133G>C	8.37:g.132957037G>C	ENSP00000254624:p.Val45Leu		133026219	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630544	0.28978	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000520362;ENST00000519656	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	N	0.11724	0.165	0.51482	D	0.999926	B	0.10296	0.003	B	0.06405	0.002	T	0.08848	-1.0702	10	0.02654	T	1	-24.5316	15.3508	0.74384	0.0:0.0:0.8596:0.1404	.	45	Q14156	EFR3A_HUMAN	L	45;9;45;45;9;9	ENSP00000254624:V45L;ENSP00000430512:V9L;ENSP00000334769:V45L;ENSP00000428086:V9L	ENSP00000254624:V45L	V	+	1	0	EFR3A	133026219	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	5.476000	0.66793	1.430000	0.47334	-0.169000	0.13324	GTA		0.358	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		C	132957037	G	C	132957037	3	2	93	1	0	0	0	0	1	0	0	0	4958	1029	36	3	143	3	EFR3A	8	132957037	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	8713469	132957037	13406985	36	4825											
FRMPD1	22844	genome.wustl.edu	37	9	37744774	37744774	+	Silent	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr9:37744774C>T	ENST00000539465.1	+	16	3338	c.2745C>T	c.(2743-2745)aaC>aaT	p.N915N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.N915N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	915						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.N915N(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGAGCACAAACCCAGCCTCCA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	9											73	68	70					9																	37744774		2203	4300	6503	37734774	SO:0001819	synonymous_variant	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2745C>T	9.37:g.37744774C>T			37734774	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																				0.567	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		T	37744774	C	T	37744774	2	4	93	1	0	0	0	0	0	0	0	1	6057	506	18	2		2	FRMPD1	9	37744774	Silent	SNP	C	TCGA-13-0884-01B-01W-0494-09		37744774	103468657	37	4826											
ROR2	4920	genome.wustl.edu	37	9	94487229	94487229	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr9:94487229G>A	ENST00000375708.3	-	9	1745	c.1547C>T	c.(1546-1548)cCc>cTc	p.P516L	ROR2_ENST00000375715.1_Missense_Mutation_p.P376L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	516	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.P516L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTCCCGCAGGGGCCCCTCCGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	9											80	93	89					9																	94487229		2203	4300	6503	93527050	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1547C>T	9.37:g.94487229G>A	ENSP00000364860:p.Pro516Leu		93527050	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920812	0.33908	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.82344	-1.6;-1.6	4.47	4.47	0.54385	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.359875	0.20116	N	0.098913	T	0.69611	0.3130	N	0.04387	-0.21	0.34099	D	0.661621	B;B	0.30146	0.215;0.27	B;B	0.32090	0.131;0.14	T	0.76389	-0.2977	10	0.48119	T	0.1	.	17.7014	0.88295	0.0:0.0:1.0:0.0	.	516;376	Q01974;B1APY4	ROR2_HUMAN;.	L	376;516	ENSP00000364867:P376L;ENSP00000364860:P516L	ENSP00000364860:P516L	P	-	2	0	ROR2	93527050	0.988000	0.35896	0.014000	0.15608	0.535000	0.34838	6.932000	0.75869	2.478000	0.83669	0.491000	0.48974	CCC		0.647	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			A	94487229	G	A	94487229	3	1	93	1	0	0	0	0	1	0	0	0	13530	1232	43	2	1288	2	ROR2	9	94487229	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	56742455	94487229	46726202	38	4827											
SVEP1	79987	genome.wustl.edu	37	9	113149588	113149588	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr9:113149588C>T	ENST00000401783.2	-	42	10373	c.10037G>A	c.(10036-10038)aGc>aAc	p.S3346N	SVEP1_ENST00000374469.1_Missense_Mutation_p.S3323N|SVEP1_ENST00000297826.5_Missense_Mutation_p.S1272N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3346	Sushi 32. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.S3349N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACTGGGTGGCTCCAGGTTCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	9											146	142	143					9																	113149588		1918	4122	6040	112189409	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10037G>A	9.37:g.113149588C>T	ENSP00000384917:p.Ser3346Asn		112189409	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089730	0.55968	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.67865	-0.29;-0.29;-0.29	5.09	3.07	0.35406	Complement control module (2);Sushi/SCR/CCP (3);	0.079584	0.85682	N	0.000000	T	0.60843	0.2300	L	0.57130	1.785	0.80722	D	1	B	0.15719	0.014	B	0.20767	0.031	T	0.60752	-0.7201	10	0.46703	T	0.11	.	10.7475	0.46189	0.0:0.796:0.1312:0.0729	.	3346	Q4LDE5	SVEP1_HUMAN	N	3346;3323;1272	ENSP00000384917:S3346N;ENSP00000363593:S3323N;ENSP00000297826:S1272N	ENSP00000297826:S1272N	S	-	2	0	SVEP1	112189409	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.070000	0.50033	1.246000	0.43901	0.650000	0.86243	AGC		0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113149588	C	T	113149588	3	4	93	1	0	0	0	0	1	0	0	0	15420	797	28	2	706	2	SVEP1	9	113149588	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	18662359	113149588	28063843	39	4828											
C5	727	genome.wustl.edu	37	9	123780131	123780131	+	Splice_Site	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr9:123780131C>G	ENST00000223642.1	-	13	1536		c.e13-1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.?(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TGGATAAAATCTAAAAATAAA	0.353																																																1	Unknown(1)	ovary(1)	9											47	50	49					9																	123780131		2203	4300	6503	122819952	SO:0001630	splice_region_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1507-1G>C	9.37:g.123780131C>G			122819952	Q14CJ0|Q27I61	Splice_Site	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285578	0.80803	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3388	0.94332	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5	122819952	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.335000	0.72949	2.808000	0.96608	0.655000	0.94253	.		0.353	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	Intron	G	123780131	C	G	123780131	5	3	93	1	0	0	0	0	0	0	1	0	2280	927	32	3	3640	3	C5	9	123780131	Splice_Site	SNP	C	TCGA-13-0884-01B-01W-0494-09	10630543	123780131	17433300	40	4829											
NRP1	8829	genome.wustl.edu	37	10	33510661	33510661	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr10:33510661C>G	ENST00000265371.4	-	9	1793	c.1268G>C	c.(1267-1269)gGt>gCt	p.G423A	NRP1_ENST00000374867.2_Missense_Mutation_p.G423A|NRP1_ENST00000374816.3_Missense_Mutation_p.G423A|NRP1_ENST00000374822.4_Missense_Mutation_p.G423A|NRP1_ENST00000374823.5_Missense_Mutation_p.G423A|NRP1_ENST00000432372.2_Missense_Mutation_p.G423A|NRP1_ENST00000374821.5_Missense_Mutation_p.G423A|NRP1_ENST00000395995.1_Missense_Mutation_p.G423A|NRP1_ENST00000374875.1_Missense_Mutation_p.G242A			O14786	NRP1_HUMAN	neuropilin 1	423	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G423A(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TATCTTGCAACCGTATACTTC	0.393																																					Melanoma(104;886 1489 44640 45944 51153)											1	Substitution - Missense(1)	ovary(1)	10											146	141	143					10																	33510661		2203	4300	6503	33550667	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1268G>C	10.37:g.33510661C>G	ENSP00000265371:p.Gly423Ala		33550667	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007474	0.93287	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.99194	-3.02;-4.08;-3.02;-3.0;-3.4;-3.36;-3.43;-3.42;-5.54	5.87	5.87	0.94306	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99408	0.9791	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D;P;D;P;D	0.64830	0.989;0.994;0.994;0.994;0.986;0.956;0.989;0.953;0.989	P;P;P;P;P;B;P;P;P	0.61658	0.804;0.862;0.862;0.892;0.671;0.376;0.804;0.598;0.757	D	0.99032	1.0821	10	0.87932	D	0	-28.2902	20.5827	0.99408	0.0:1.0:0.0:0.0	.	423;423;423;423;423;423;423;242;423	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	A	423;242;423;423;423;423;423;423;96	ENSP00000265371:G423A;ENSP00000364009:G242A;ENSP00000364001:G423A;ENSP00000379317:G423A;ENSP00000363955:G423A;ENSP00000363954:G423A;ENSP00000363956:G423A;ENSP00000363949:G423A;ENSP00000408911:G96A	ENSP00000265371:G423A	G	-	2	0	NRP1	33550667	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.439000	0.80444	2.941000	0.99782	0.655000	0.94253	GGT		0.393	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			G	33510661	C	G	33510661	3	3	93	1	0	0	0	0	1	0	0	0	10660	507	18	3	1554	3	NRP1	10	33510661	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		33510661	102024086	41	4830											
TET1	80312	genome.wustl.edu	37	10	70406107	70406107	+	Silent	SNP	T	T	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr10:70406107T>G	ENST00000373644.4	+	4	3830	c.3621T>G	c.(3619-3621)ccT>ccG	p.P1207P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1207					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.P1207P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGATTTTCCTACTGTATTTG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	10											55	56	56					10																	70406107		2203	4300	6503	70076113	SO:0001819	synonymous_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3621T>G	10.37:g.70406107T>G			70076113	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70406107	T	G	70406107	2	3	93	1	0	0	0	0	0	0	0	1	15769	1509	53	5		5	TET1	10	70406107	Silent	SNP	T	TCGA-13-0884-01B-01W-0494-09	36895446	70406107	65128640	42	4831											
GRID1	2894	genome.wustl.edu	37	10	87487708	87487708	+	Silent	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr10:87487708G>A	ENST00000327946.7	-	10	1522	c.1437C>T	c.(1435-1437)ggC>ggT	p.G479G	GRID1_ENST00000536331.1_Silent_p.G50G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	479					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G479G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CATATTTAAAGCCCAGAGCCT	0.532										Multiple Myeloma(13;0.14)																																						1	Substitution - coding silent(1)	ovary(1)	10											169	162	164					10																	87487708		2203	4300	6503	87477688	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1437C>T	10.37:g.87487708G>A			87477688	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																				0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		A	87487708	G	A	87487708	2	1	93	1	0	0	0	0	0	0	0	1	6771	958	34	2		2	GRID1	10	87487708	Silent	SNP	G	TCGA-13-0884-01B-01W-0494-09	17081601	87487708	48047039	43	4832											
RRP12	23223	genome.wustl.edu	37	10	99141485	99141485	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr10:99141485G>A	ENST00000370992.4	-	11	1418	c.1307C>T	c.(1306-1308)aCg>aTg	p.T436M	RRP12_ENST00000414986.1_Missense_Mutation_p.T375M|RRP12_ENST00000315563.6_Missense_Mutation_p.T336M|RRP12_ENST00000536831.1_Missense_Mutation_p.T154M	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	436						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.T436M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GAGGCTCTGCGTAGCAGCAGT	0.597																																																1	Substitution - Missense(1)	ovary(1)	10											69	58	62					10																	99141485		2203	4300	6503	99131475	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1307C>T	10.37:g.99141485G>A	ENSP00000360031:p.Thr436Met		99131475	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891743	0.72524	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.223488	0.48767	D	0.000171	T	0.73337	0.3574	L	0.56769	1.78	0.42336	D	0.992316	D;B;D;D	0.76494	0.999;0.139;0.998;0.998	P;B;P;P	0.59424	0.8;0.052;0.857;0.724	T	0.67699	-0.5603	10	0.22706	T	0.39	-17.4342	19.8221	0.96602	0.0:0.0:1.0:0.0	.	375;336;154;436	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	M	436;336;375;154	ENSP00000360031:T436M;ENSP00000324315:T336M;ENSP00000414863:T375M;ENSP00000446184:T154M	ENSP00000324315:T336M	T	-	2	0	RRP12	99131475	1.000000	0.71417	0.998000	0.56505	0.242000	0.25591	9.563000	0.98148	2.684000	0.91462	0.563000	0.77884	ACG		0.597	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		A	99141485	G	A	99141485	3	1	93	1	0	0	0	0	1	0	0	0	13689	1145	40	1	2682	1	RRP12	10	99141485	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	11653777	99141485	36393262	44	4833											
FAM24A	118670	genome.wustl.edu	37	10	124672396	124672396	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr10:124672396T>C	ENST00000368894.1	+	3	365	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	82						extracellular region (GO:0005576)		p.C82R(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCTCCAGTGCTGTGAAGGTTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											174	123	140					10																	124672396		2203	4300	6503	124662386	SO:0001583	missense	118670				CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.244T>C	10.37:g.124672396T>C	ENSP00000357889:p.Cys82Arg		124662386		Missense_Mutation	SNP	ENST00000368894.1	37	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	T	6.381	0.438398	0.12104	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.57	2.44	0.29823	.	0.160661	0.29964	N	0.010760	T	0.18299	0.0439	N	0.14661	0.345	0.22489	N	0.99906	B	0.22683	0.073	B	0.23018	0.043	T	0.13308	-1.0514	9	0.32370	T	0.25	.	5.8078	0.18450	0.0:0.1223:0.0:0.8777	.	82	A6NFZ4	FA24A_HUMAN	R	82	.	ENSP00000357889:C82R	C	+	1	0	FAM24A	124662386	0.917000	0.31117	0.081000	0.20488	0.055000	0.15305	1.578000	0.36525	0.736000	0.32559	-0.411000	0.06167	TGT		0.507	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		C	124672396	T	C	124672396	3	2	93	1	0	0	0	0	1	0	0	0	5547	1580	55	4	250	4	FAM24A	10	124672396	Missense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09	25530911	124672396	10862351	45	4834											
TRIM21	6737	genome.wustl.edu	37	11	4406634	4406634	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr11:4406634C>T	ENST00000254436.7	-	7	1421	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	TRIM21_ENST00000543625.1_Missense_Mutation_p.A437T	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	437	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A437T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CCTGTAAAGGCACATTCAGAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											77	76	77					11																	4406634		1966	4160	6126	4363210	SO:0001583	missense	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.1309G>A	11.37:g.4406634C>T	ENSP00000254436:p.Ala437Thr		4363210	Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432411	0.25813	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.67698	-0.28;-0.28	4.32	2.42	0.29668	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.638874	0.13897	N	0.355197	T	0.41351	0.1155	N	0.11698	0.16	0.23162	N	0.998191	B	0.17038	0.02	B	0.11329	0.006	T	0.17107	-1.0380	10	0.23891	T	0.37	.	3.7587	0.08595	0.1947:0.606:0.0:0.1992	.	437	P19474	RO52_HUMAN	T	437	ENSP00000254436:A437T;ENSP00000444045:A437T	ENSP00000254436:A437T	A	-	1	0	TRIM21	4363210	0.002000	0.14202	0.934000	0.37439	0.957000	0.61999	0.054000	0.14205	0.736000	0.32559	0.655000	0.94253	GCC		0.493	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		T	4406634	C	T	4406634	3	4	93	1	0	0	0	0	1	0	0	0	16495	710	25	2	122	2	TRIM21	11	4406634	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		4406634	130599882	46	4835											
ACP2	53	genome.wustl.edu	37	11	47266885	47266885	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr11:47266885A>G	ENST00000256997.3	-	6	726	c.610T>C	c.(610-612)Tgg>Cgg	p.W204R	ACP2_ENST00000529444.1_Intron|ACP2_ENST00000530453.1_Intron|ACP2_ENST00000525230.1_5'Flank|ACP2_ENST00000537863.1_Missense_Mutation_p.W17R|ACP2_ENST00000527256.1_Missense_Mutation_p.W172R|ACP2_ENST00000533929.1_Missense_Mutation_p.W176R	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	204					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)	p.W204R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						TAGACATTCCAGACGGTCTCC	0.537																																					Melanoma(90;262 1440 11488 44828 48531)											1	Substitution - Missense(1)	ovary(1)	11											161	156	158					11																	47266885		2201	4298	6499	47223461	SO:0001583	missense	53			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.610T>C	11.37:g.47266885A>G	ENSP00000256997:p.Trp204Arg		47223461	E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.092456	0.55968	.	.	ENSG00000134575	ENST00000256997;ENST00000527256;ENST00000537863;ENST00000540414;ENST00000533929;ENST00000529663	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.67	4.67	0.58626	.	0.106321	0.64402	D	0.000001	T	0.56587	0.1995	M	0.86343	2.81	0.80722	D	1	B;B;P;B	0.36144	0.401;0.141;0.539;0.264	P;B;P;B	0.47402	0.546;0.263;0.495;0.356	T	0.64812	-0.6319	10	0.87932	D	0	.	14.2691	0.66140	1.0:0.0:0.0:0.0	.	172;176;194;204	B7Z7D2;E9PQY3;F5H1S6;P11117	.;.;.;PPAL_HUMAN	R	204;172;17;194;176;171	ENSP00000256997:W204R;ENSP00000432205:W172R;ENSP00000441933:W17R;ENSP00000432439:W176R;ENSP00000436487:W171R	ENSP00000256997:W204R	W	-	1	0	ACP2	47223461	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	8.435000	0.90297	1.954000	0.56735	0.379000	0.24179	TGG		0.537	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		G	47266885	A	G	47266885	3	3	93	1	0	0	0	0	1	0	0	0	163	188	7	4	685	4	ACP2	11	47266885	Missense_Mutation	SNP	A	TCGA-13-0884-01B-01W-0494-09	42860251	47266885	87739631	47	4836											
MADD	8567	genome.wustl.edu	37	11	47333386	47333386	+	Missense_Mutation	SNP	C	C	T	rs146118440		TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr11:47333386C>T	ENST00000311027.5	+	29	4427	c.4262C>T	c.(4261-4263)gCg>gTg	p.A1421V	MADD_ENST00000395344.3_Missense_Mutation_p.A1315V|MADD_ENST00000402799.1_Missense_Mutation_p.A1319V|MADD_ENST00000406482.1_Missense_Mutation_p.A1319V|MADD_ENST00000342922.4_Missense_Mutation_p.A1362V|MADD_ENST00000405573.2_Missense_Mutation_p.A231V|MADD_ENST00000402192.2_Missense_Mutation_p.A1361V|MADD_ENST00000407859.3_Missense_Mutation_p.A1339V|MADD_ENST00000349238.3_Missense_Mutation_p.A1382V|MADD_ENST00000395336.3_Missense_Mutation_p.A1421V	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.A1421V(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GATCAGCTGGCGAACCTGGTA	0.502																																																1	Substitution - Missense(1)	ovary(1)	11						C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4402		0,0,2201	81	70	74		3953,3944,4262,4085,4016,3956,4145,3956,4262,4082	2.2	0.3	11	dbSNP_134	74	1,8595		0,1,4297	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MADD	NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2	64,64,64,64,64,64,64,64,64,64	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	1318/1545,1315/1542,1421/1648,1362/1589,1339/1566,1319/1546,1382/1609,1319/1480,1421/1582,1361/1588	47333386	1,12997	2201	4298	6499	47289962	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4262C>T	11.37:g.47333386C>T	ENSP00000310933:p.Ala1421Val		47289962		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816461	0.32145	0.0	1.16E-4	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.46451	3.49;3.37;3.37;3.49;3.47;3.37;3.37;3.47;3.49;0.87	5.14	2.25	0.28309	.	0.242700	0.41001	N	0.000973	T	0.18964	0.0455	N	0.08118	0	0.41751	D	0.98966	B;B;B;B;B;B;B;B;B;B;B	0.31290	0.039;0.081;0.047;0.003;0.079;0.132;0.132;0.001;0.318;0.002;0.001	B;B;B;B;B;B;B;B;B;B;B	0.26693	0.018;0.017;0.033;0.002;0.072;0.072;0.038;0.003;0.072;0.001;0.003	T	0.06041	-1.0849	10	0.30854	T	0.27	-1.985	8.0317	0.30470	0.1294:0.7317:0.0:0.1389	.	231;1315;1315;1421;1319;1319;1319;1382;1339;1421;1362	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	V	1362;1319;1319;1319;1382;1421;1339;1315;1421;1361;231	ENSP00000343902:A1362V;ENSP00000385585:A1319V;ENSP00000384435:A1319V;ENSP00000304505:A1382V;ENSP00000310933:A1421V;ENSP00000384204:A1339V;ENSP00000378753:A1315V;ENSP00000378745:A1421V;ENSP00000384287:A1361V;ENSP00000384483:A231V	ENSP00000310933:A1421V	A	+	2	0	MADD	47289962	0.916000	0.31088	0.254000	0.24359	0.691000	0.40173	1.947000	0.40293	0.185000	0.20105	-0.222000	0.12452	GCG		0.502	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			T	47333386	C	T	47333386	3	4	93	1	0	0	0	0	1	0	0	0	9152	768	27	1	4372	1	MADD	11	47333386	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	66501	47333386	87673130	48	4837											
OR5M3	219482	genome.wustl.edu	37	11	56237502	56237502	+	Missense_Mutation	SNP	T	T	C	rs148100298	byFrequency	TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr11:56237502T>C	ENST00000312240.2	-	1	512	c.472A>G	c.(472-474)Aca>Gca	p.T158A		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T158A(1)|p.T158P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTCCATAATGTTGCTGCCAGA	0.428																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	11											122	112	115					11																	56237502		2201	4295	6496	55994078	SO:0001583	missense	219482			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.472A>G	11.37:g.56237502T>C	ENSP00000312208:p.Thr158Ala		55994078	B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870782	0.33069	.	.	ENSG00000174937	ENST00000312240	T	0.00256	8.42	5.22	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000173	T	0.00412	0.0013	L	0.60904	1.88	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51411	-0.8709	10	0.48119	T	0.1	-6.2895	10.3656	0.44021	0.1471:0.0:0.0:0.8529	.	158	Q8NGP4	OR5M3_HUMAN	A	158	ENSP00000312208:T158A	ENSP00000312208:T158A	T	-	1	0	OR5M3	55994078	0.000000	0.05858	0.015000	0.15790	0.560000	0.35617	0.095000	0.15127	0.796000	0.33947	0.448000	0.29417	ACA		0.428	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		C	56237502	T	C	56237502	3	2	93	1	0	0	0	0	1	0	0	0	11175	1725	60	4	453	4	OR5M3	11	56237502	Missense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09	8904116	56237502	78769014	49	4838											
OR9Q2	219957	genome.wustl.edu	37	11	57958276	57958276	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr11:57958276C>A	ENST00000311591.3	+	1	371	c.314C>A	c.(313-315)aCc>aAc	p.T105N		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T105N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TTCCTCTTCACCTTCTTTGCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											205	159	175					11																	57958276		2201	4296	6497	57714852	SO:0001583	missense	219957			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.314C>A	11.37:g.57958276C>A	ENSP00000308714:p.Thr105Asn		57714852		Missense_Mutation	SNP	ENST00000311591.3	37	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404690	0.42613	.	.	ENSG00000186513	ENST00000311591	T	0.00557	6.62	5.54	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000144	T	0.00524	0.0017	L	0.43646	1.37	0.30725	N	0.747794	B	0.26577	0.153	B	0.25614	0.062	T	0.24977	-1.0145	10	0.62326	D	0.03	-28.3165	6.9541	0.24562	0.157:0.7098:0.0:0.1332	.	105	Q8NGE9	OR9Q2_HUMAN	N	105	ENSP00000308714:T105N	ENSP00000308714:T105N	T	+	2	0	OR9Q2	57714852	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.125000	0.10579	2.765000	0.95021	0.655000	0.94253	ACC		0.577	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		A	57958276	C	A	57958276	3	1	93	1	0	0	0	0	1	0	0	0	11256	507	18	3	316	3	OR9Q2	11	57958276	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	1720774	57958276	77048240	50	4839											
BIRC3	330	genome.wustl.edu	37	11	102195983	102195983	+	Missense_Mutation	SNP	C	C	G	rs373514370		TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr11:102195983C>G	ENST00000263464.3	+	2	3493	c.743C>G	c.(742-744)tCt>tGt	p.S248C	BIRC3_ENST00000532808.1_Missense_Mutation_p.S248C	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	248					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S248C(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TACACAGTTTCTAATCTGAGC	0.423			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	1	Substitution - Missense(1)	ovary(1)	11						C	CYS/SER,CYS/SER	0,4406		0,0,2203	75	76	76		743,743	5.6	0.5	11		76	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BIRC3	NM_182962.2,NM_001165.4	112,112	0,1,6501	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	248/605,248/605	102195983	1,13003	2203	4299	6502	101701193	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.743C>G	11.37:g.102195983C>G	ENSP00000263464:p.Ser248Cys		101701193	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697410	0.48202	0.0	1.16E-4	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609;ENST00000527309	T;T;T	0.72505	3.73;3.73;-0.66	5.55	5.55	0.83447	Baculoviral inhibition of apoptosis protein repeat (1);	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.67397	2.05	0.80722	D	1	B	0.26002	0.139	B	0.20767	0.031	T	0.67348	-0.5693	10	0.44086	T	0.13	.	19.6873	0.95984	0.0:1.0:0.0:0.0	.	248	Q13489	BIRC3_HUMAN	C	248;248;97;11	ENSP00000263464:S248C;ENSP00000432907:S248C;ENSP00000431718:S11C	ENSP00000263464:S248C	S	+	2	0	BIRC3	101701193	1.000000	0.71417	0.477000	0.27303	0.684000	0.39900	5.445000	0.66594	2.890000	0.99128	0.585000	0.79938	TCT		0.423	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102195983	C	G	102195983	3	3	93	1	0	0	0	0	1	0	0	0	1436	913	32	3	745	3	BIRC3	11	102195983	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	44237707	102195983	32810533	51	4840											
ERC1	23085	genome.wustl.edu	37	12	1346062	1346062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr12:1346062C>T	ENST00000397203.2	+	13	2885	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*	ERC1_ENST00000589028.1_Nonsense_Mutation_p.Q827*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.Q799*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.Q831*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.Q827*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.Q827*|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	827					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.Q827*(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CAGCTCTCAGCAGCTACAGGT	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	12											94	82	86					12																	1346062		2203	4300	6503	1216323	SO:0001587	stop_gained	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2479C>T	12.37:g.1346062C>T	ENSP00000380386:p.Gln827*		1216323	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	C	39	7.866192	0.98534	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.81	5.81	0.92471	.	0.111999	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-24.9711	20.0656	0.97703	0.0:1.0:0.0:0.0	.	.	.	.	X	803;827;803;803;531;799;803;531;827;827;827;803;579;467	.	ENSP00000299183:Q531X	Q	+	1	0	ERC1	1216323	1.000000	0.71417	0.988000	0.46212	0.768000	0.43524	5.732000	0.68563	2.747000	0.94245	0.650000	0.86243	CAG		0.448	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		T	1346062	C	T	1346062	4	4	93	1	0	0	0	0	0	1	0	0	5210	711	25	2	2525	2	ERC1	12	1346062	Nonsense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		1346062	132505833	52	4841											
SOX5	6660	genome.wustl.edu	37	12	23893901	23893901	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr12:23893901T>A	ENST00000451604.2	-	5	742	c.641A>T	c.(640-642)gAg>gTg	p.E214V	SOX5_ENST00000541536.1_Missense_Mutation_p.E201V|SOX5_ENST00000381381.2_Missense_Mutation_p.E201V|SOX5_ENST00000309359.1_Missense_Mutation_p.E201V|SOX5_ENST00000541847.1_Missense_Mutation_p.E204V|SOX5_ENST00000545921.1_Missense_Mutation_p.E204V|SOX5_ENST00000546136.1_Missense_Mutation_p.E201V|SOX5_ENST00000537393.1_Missense_Mutation_p.E179V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	214					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E214V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAACAGCTGCTCTCGGAGGCT	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											83	75	78					12																	23893901		2203	4300	6503	23785168	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.641A>T	12.37:g.23893901T>A	ENSP00000398273:p.Glu214Val		23785168	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	32	5.167896	0.94768	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847	D;D;D;D;D;D;D	0.98684	-5.05;-5.05;-5.07;-5.05;-5.01;-5.07;-5.05	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;D;D	0.78314	0.991;0.978;0.987	D	0.99701	1.1004	10	0.87932	D	0	.	16.1416	0.81528	0.0:0.0:0.0:1.0	.	179;201;214	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	V	201;201;201;214;166;179;201;204;204	ENSP00000437487:E201V;ENSP00000308927:E201V;ENSP00000370788:E201V;ENSP00000398273:E214V;ENSP00000439832:E179V;ENSP00000441973:E201V;ENSP00000443520:E204V	ENSP00000308927:E201V	E	-	2	0	SOX5	23785168	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.559000	0.82265	2.209000	0.71365	0.482000	0.46254	GAG		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		A	23893901	T	A	23893901	3	1	93	1	0	0	0	0	1	0	0	0	14957	1551	54	5	1704	5	SOX5	12	23893901	Missense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09	22547839	23893901	109957994	53	4842											
C12orf11	55726	genome.wustl.edu	37	12	27089631	27089631	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr12:27089631T>C	ENST00000261191.7	-	2	642	c.106A>G	c.(106-108)Aat>Gat	p.N36D	FGFR1OP2_ENST00000229395.3_5'Flank|FGFR1OP2_ENST00000327214.5_5'Flank|ASUN_ENST00000539625.1_Intron|FGFR1OP2_ENST00000546072.1_5'Flank	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	36					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N36D(1)									TGGGTTCTATTCTTCACCAGC	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											79	81	81					12																	27089631		2203	4300	6503	26980898	SO:0001583	missense	55726			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.106A>G	12.37:g.27089631T>C	ENSP00000261191:p.Asn36Asp		26980898	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283521	0.40394	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.42513	0.97;0.97;0.97	5.38	5.38	0.77491	.	0.046656	0.85682	D	0.000000	T	0.29882	0.0747	N	0.11427	0.14	0.80722	D	1	B	0.33000	0.393	B	0.37731	0.257	T	0.16188	-1.0411	10	0.32370	T	0.25	-25.845	15.696	0.77499	0.0:0.0:0.0:1.0	.	36	Q9NVM9	M89BB_HUMAN	D	36	ENSP00000261191:N36D;ENSP00000446183:N36D;ENSP00000443066:N36D	ENSP00000261191:N36D	N	-	1	0	C12orf11	26980898	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.165000	0.68154	0.460000	0.39030	AAT		0.383	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		C	27089631	T	C	27089631	3	2	93	1	0	0	0	0	1	0	0	0	1675	1783	62	4	2078	4	C12orf11	12	27089631	Missense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09	3195730	27089631	106762264	54	4843											
KRT6B	3854	genome.wustl.edu	37	12	52845636	52845636	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr12:52845636C>G	ENST00000252252.3	-	1	274	c.227G>C	c.(226-228)aGc>aCc	p.S76T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	76	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.S76T(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GATGGCACAGCTGCCCCCTCC	0.652																																																1	Substitution - Missense(1)	ovary(1)	12											3	4	4					12																	52845636		1778	3631	5409	51131903	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.227G>C	12.37:g.52845636C>G	ENSP00000252252:p.Ser76Thr		51131903	P48669	Missense_Mutation	SNP	ENST00000252252.3	37	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638720	0.29157	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.35236	1.32	2.97	2.07	0.26955	.	0.093959	0.48286	D	0.000198	T	0.23965	0.0580	L	0.54323	1.7	0.28537	N	0.912285	P	0.37781	0.608	B	0.24701	0.055	T	0.16748	-1.0392	10	0.45353	T	0.12	.	6.0496	0.19779	0.0:0.8549:0.0:0.1451	.	76	P04259	K2C6B_HUMAN	T	76	ENSP00000252252:S76T	ENSP00000252252:S76T	S	-	2	0	KRT6B	51131903	0.087000	0.21565	0.996000	0.52242	0.740000	0.42216	1.611000	0.36879	0.831000	0.34780	0.298000	0.19748	AGC		0.652	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		G	52845636	C	G	52845636	3	3	93	1	0	0	0	0	1	0	0	0	8481	797	28	3	1503	3	KRT6B	12	52845636	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	25756005	52845636	81006259	55	4844											
RPH3A	22895	genome.wustl.edu	37	12	113321126	113321126	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr12:113321126G>A	ENST00000389385.4	+	16	1852	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q	RPH3A_ENST00000543106.2_Missense_Mutation_p.R452Q|RPH3A_ENST00000551052.1_Missense_Mutation_p.R448Q|RPH3A_ENST00000415485.3_Missense_Mutation_p.R452Q|RPH3A_ENST00000548866.1_Missense_Mutation_p.R403Q|RPH3A_ENST00000420983.2_Missense_Mutation_p.R452Q|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Missense_Mutation_p.R403Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	452	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.R448Q(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAAACTCTGCGGAATACCCGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											76	61	66					12																	113321126		2203	4300	6503	111805509	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1355G>A	12.37:g.113321126G>A	ENSP00000374036:p.Arg452Gln		111805509	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098000	0.94197	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000038	T	0.73521	0.3597	L	0.41027	1.25	0.58432	D	0.999992	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	P;P;P;P	0.59424	0.817;0.857;0.857;0.817	T	0.75022	-0.3464	10	0.56958	D	0.05	.	18.0287	0.89276	0.0:0.0:1.0:0.0	.	403;452;452;448	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	Q	452;452;403;448;452;403;452;104;104	ENSP00000440384:R452Q;ENSP00000374036:R452Q;ENSP00000413254:R403Q;ENSP00000448297:R448Q;ENSP00000405357:R452Q;ENSP00000450347:R403Q;ENSP00000408889:R452Q	ENSP00000374036:R452Q	R	+	2	0	RPH3A	111805509	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.394000	0.73223	2.546000	0.85860	0.551000	0.68910	CGG		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113321126	G	A	113321126	3	1	93	1	0	0	0	0	1	0	0	0	13554	1116	39	1	1409	1	RPH3A	12	113321126	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	60475490	113321126	20530769	56	4845											
SRRM4	84530	genome.wustl.edu	37	12	119592167	119592167	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr12:119592167T>G	ENST00000267260.4	+	12	1899	c.1511T>G	c.(1510-1512)cTg>cGg	p.L504R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	504	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.L504R(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCGAGCCACCTGGAGGCCCGG	0.642																																																1	Substitution - Missense(1)	ovary(1)	12											15	19	18					12																	119592167		1855	4083	5938	118076550	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1511T>G	12.37:g.119592167T>G	ENSP00000267260:p.Leu504Arg		118076550	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	T	34	5.357097	0.95854	.	.	ENSG00000139767	ENST00000267260	T	0.43688	0.94	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000017	T	0.60314	0.2259	L	0.59436	1.845	0.48975	D	0.99973	D	0.89917	1.0	D	0.79108	0.992	T	0.59616	-0.7421	9	.	.	.	-10.9185	15.3222	0.74132	0.0:0.0:0.0:1.0	.	504	A7MD48	SRRM4_HUMAN	R	504	ENSP00000267260:L504R	.	L	+	2	0	SRRM4	118076550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.501000	0.81600	2.027000	0.59764	0.533000	0.62120	CTG		0.642	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		G	119592167	T	G	119592167	3	3	93	1	0	0	0	0	1	0	0	0	15173	1580	55	5	1557	5	SRRM4	12	119592167	Missense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09	6271041	119592167	14259728	57	4846											
LNX2	222484	genome.wustl.edu	37	13	28141953	28141953	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr13:28141953G>A	ENST00000316334.3	-	4	808	c.679C>T	c.(679-681)Cca>Tca	p.P227S		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	227					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)	p.P227S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TCTCCTTCTGGTAAACTAAGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	13											113	113	113					13																	28141953		2203	4300	6503	27039953	SO:0001583	missense	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.679C>T	13.37:g.28141953G>A	ENSP00000325929:p.Pro227Ser		27039953	Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130867	0.56828	.	.	ENSG00000139517	ENST00000316334	T	0.29917	1.55	5.57	5.57	0.84162	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.54118	-0.8341	10	0.44086	T	0.13	.	19.5508	0.95319	0.0:0.0:1.0:0.0	.	227	Q8N448	LNX2_HUMAN	S	227	ENSP00000325929:P227S	ENSP00000325929:P227S	P	-	1	0	LNX2	27039953	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	9.476000	0.97823	2.617000	0.88574	0.655000	0.94253	CCA		0.358	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			A	28141953	G	A	28141953	3	1	93	1	0	0	0	0	1	0	0	0	8866	1261	44	2	1421	2	LNX2	13	28141953	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09		28141953	87027925	58	4847											
FLT1	2321	genome.wustl.edu	37	13	29008235	29008235	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr13:29008235A>T	ENST00000282397.4	-	5	887	c.636T>A	c.(634-636)aaT>aaA	p.N212K	FLT1_ENST00000541932.1_Missense_Mutation_p.N212K|FLT1_ENST00000539099.1_Missense_Mutation_p.N212K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	212	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.N212K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACAAATGCCCATTGACTGTTG	0.398																																																1	Substitution - Missense(1)	ovary(1)	13											155	129	138					13																	29008235		2203	4300	6503	27906235	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.636T>A	13.37:g.29008235A>T	ENSP00000282397:p.Asn212Lys		27906235	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.888421	0.72524	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.16597	2.33;2.33;2.33	5.78	-1.01	0.10169	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.399284	0.28442	N	0.015333	T	0.27697	0.0681	L	0.53249	1.67	0.38002	D	0.934241	P;P;P;P	0.51449	0.945;0.945;0.945;0.863	P;P;P;P	0.59357	0.856;0.856;0.856;0.627	T	0.05146	-1.0903	10	0.40728	T	0.16	.	11.792	0.52075	0.7416:0.0:0.2584:0.0	.	212;212;212;212	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	K	212	ENSP00000282397:N212K;ENSP00000437631:N212K;ENSP00000442630:N212K	ENSP00000282397:N212K	N	-	3	2	FLT1	27906235	0.881000	0.30235	0.693000	0.30195	0.916000	0.54674	0.170000	0.16663	-0.101000	0.12219	0.528000	0.53228	AAT		0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			T	29008235	A	T	29008235	3	4	93	1	0	0	0	0	1	0	0	0	5941	214	8	5	3747	5	FLT1	13	29008235	Missense_Mutation	SNP	A	TCGA-13-0884-01B-01W-0494-09	866282	29008235	86161643	59	4848											
EPSTI1	94240	genome.wustl.edu	37	13	43462622	43462622	+	IGR	SNP	A	A	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr13:43462622A>G	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313624.7_3'UTR|EPSTI1_ENST00000313640.7_Silent_p.L333L			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)									p.L333L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		ATAGGAGTCAATATTTTCTCA	0.343																																																1	Substitution - coding silent(1)	ovary(1)	13											60	65	63					13																	43462622		2203	4300	6503	42360622	SO:0001628	intergenic_variant	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462622A>G			42360622	Q8IVC7|Q8NDQ7	Silent	SNP	ENST00000398762.3	37	CCDS9387.1																																																																																				0.343	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		G	43462622	A	G	43462622	1	3	93	0	1	0	0	0	0	0	0	0	5198	98	4	4		4	EPSTI1	13	43462622	IGR	SNP	A	TCGA-13-0884-01B-01W-0494-09	14454387	43462622	71707256	60	4849											
COL4A1	1282	genome.wustl.edu	37	13	110817260	110817260	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	A	G	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr13:110817260G>A	ENST00000375820.4	-	46	4220	c.4099C>T	c.(4099-4101)Ccc>Tcc	p.P1367S	COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1367	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P1367S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCCCTGGGGGGCCCTCAGGA	0.662																																																1	Substitution - Missense(1)	ovary(1)	13											13	14	14					13																	110817260		2200	4299	6499	109615261	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4099C>T	13.37:g.110817260G>A	ENSP00000364979:p.Pro1367Ser		109615261	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637983	0.47153	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.94793	-3.52	5.14	5.14	0.70334	.	0.072360	0.64402	D	0.000019	D	0.92351	0.7573	L	0.59912	1.85	0.80722	D	1	P	0.47350	0.894	B	0.39119	0.291	D	0.91257	0.5034	10	0.22109	T	0.4	.	18.6358	0.91378	0.0:0.0:1.0:0.0	.	1367	P02462	CO4A1_HUMAN	S	1010;1367;1016	ENSP00000364979:P1367S	ENSP00000364973:P1010S	P	-	1	0	COL4A1	109615261	1.000000	0.71417	0.974000	0.42286	0.875000	0.50365	6.016000	0.70798	2.391000	0.81399	0.655000	0.94253	CCC		0.662	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			A	110817260	G	A	110817260	3	1	93	1	0	0	0	0	1	0	0	0	3689	1232	43	2	938	2	COL4A1	13	110817260	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	67354638	110817260	4352618	61	4850											
OR4N5	390437	genome.wustl.edu	37	14	20612745	20612745	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr14:20612745C>A	ENST00000333629.1	+	1	851	c.851C>A	c.(850-852)cCt>cAt	p.P284H	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284H(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTGATGAACCCTGTTATTTAT	0.408																																																1	Substitution - Missense(1)	ovary(1)	14											117	117	117					14																	20612745		2203	4300	6503	19682585	SO:0001583	missense	390437				CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.851C>A	14.37:g.20612745C>A	ENSP00000332110:p.Pro284His		19682585	Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299926	0.60195	.	.	ENSG00000184394	ENST00000333629	T	0.64260	-0.09	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000563	D	0.83672	0.5305	H	0.94658	3.565	0.37603	D	0.92065	D	0.89917	1.0	D	0.91635	0.999	D	0.89908	0.4049	10	0.87932	D	0	.	13.9851	0.64328	0.0:1.0:0.0:0.0	.	284	Q8IXE1	OR4N5_HUMAN	H	284	ENSP00000332110:P284H	ENSP00000332110:P284H	P	+	2	0	OR4N5	19682585	0.975000	0.34042	1.000000	0.80357	0.959000	0.62525	4.159000	0.58157	2.219000	0.72066	0.655000	0.94253	CCT		0.408	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			A	20612745	C	A	20612745	3	1	93	1	0	0	0	0	1	0	0	0	11079	681	24	3	853	3	OR4N5	14	20612745	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		20612745	86736795	62	4851											
MTHFD1	4522	genome.wustl.edu	37	14	64886542	64886542	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr14:64886542G>C	ENST00000545908.1	+	8	1023	c.794G>C	c.(793-795)gGt>gCt	p.G265A	MTHFD1_ENST00000216605.8_Missense_Mutation_p.G209A			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	209	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.G209A(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GTAAATAAAGGTGACATCCTG	0.418																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											1	Substitution - Missense(1)	ovary(1)	14											102	97	98					14																	64886542		2203	4300	6503	63956295	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.794G>C	14.37:g.64886542G>C	ENSP00000438588:p.Gly265Ala		63956295	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	G	3.318	-0.139452	0.06669	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.74	2.78	0.32641	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.113050	0.64402	N	0.000013	T	0.04363	0.0120	N	0.00003	-3.43	0.35521	D	0.801453	B;B;B	0.12630	0.006;0.002;0.002	B;B;B	0.12156	0.003;0.002;0.007	T	0.50996	-0.8761	10	0.02654	T	1	-6.8447	15.3814	0.74658	0.0:0.6357:0.3643:0.0	.	265;209;209	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	A	265;209;265;189	ENSP00000438588:G265A;ENSP00000450560:G209A;ENSP00000216605:G265A;ENSP00000451309:G189A	ENSP00000216605:G209A	G	+	2	0	MTHFD1	63956295	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.610000	0.61155	0.749000	0.32854	-0.182000	0.12963	GGT		0.418	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			C	64886542	G	C	64886542	3	2	93	1	0	0	0	0	1	0	0	0	9927	1261	44	3	656	3	MTHFD1	14	64886542	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	44273797	64886542	42462998	63	4852											
MEIS2	4212	genome.wustl.edu	37	15	37390181	37390181	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr15:37390181C>T	ENST00000561208.1	-	2	650	c.232G>A	c.(232-234)Gac>Aac	p.D78N	RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000382766.2_Missense_Mutation_p.D78N|MEIS2_ENST00000424352.2_Missense_Mutation_p.D78N|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_Missense_Mutation_p.D65N|MEIS2_ENST00000340545.5_Missense_Mutation_p.D65N|MEIS2_ENST00000338564.5_Missense_Mutation_p.D78N|MEIS2_ENST00000559085.1_Missense_Mutation_p.D65N|MEIS2_ENST00000559561.1_Missense_Mutation_p.D78N|MEIS2_ENST00000444725.1_Missense_Mutation_p.D78N			O14770	MEIS2_HUMAN	Meis homeobox 2	78	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D78N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TAGATCGCGTCCTTGTCCCGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	15											67	59	62					15																	37390181		2201	4297	6498	35177473	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.232G>A	15.37:g.37390181C>T	ENSP00000453793:p.Asp78Asn		35177473	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	37	6.026942	0.97216	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.35236	1.58;1.32;1.32;1.58;1.58;1.58	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.987;0.991;0.949;0.987;0.974;1.0	T	0.64326	-0.6434	10	0.49607	T	0.09	-6.873	19.0381	0.92987	0.0:1.0:0.0:0.0	.	65;78;78;78;78;65	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	N	78;78;78;78;78;65;65	ENSP00000326296:D78N;ENSP00000341400:D78N;ENSP00000372216:D78N;ENSP00000404185:D78N;ENSP00000391887:D78N;ENSP00000339549:D65N	ENSP00000326296:D78N	D	-	1	0	MEIS2	35177473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.387000	0.79785	2.568000	0.86640	0.655000	0.94253	GAC		0.607	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		T	37390181	C	T	37390181	3	4	93	1	0	0	0	0	1	0	0	0	9468	855	30	2	1308	2	MEIS2	15	37390181	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		37390181	65141211	64	4853											
FAM98B	283742	genome.wustl.edu	37	15	38757484	38757484	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr15:38757484G>C	ENST00000491535.1	+	3	240	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	FAM98B_ENST00000397609.2_Missense_Mutation_p.E78Q	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	78						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.E78Q(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		AGATGATCTAGAGAGCTTCCA	0.294																																																1	Substitution - Missense(1)	ovary(1)	15											50	53	52					15																	38757484		2199	4288	6487	36544776	SO:0001583	missense	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.232G>C	15.37:g.38757484G>C	ENSP00000453166:p.Glu78Gln		36544776	A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439130	0.83885	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.51325	0.71	4.71	4.71	0.59529	.	0.050594	0.85682	D	0.000000	T	0.69886	0.3161	M	0.77486	2.375	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.73380	0.977;0.98	T	0.73395	-0.3996	10	0.59425	D	0.04	-31.5945	18.2052	0.89852	0.0:0.0:1.0:0.0	.	78;78	A8MUW5;Q52LJ0	.;FA98B_HUMAN	Q	78	ENSP00000380734:E78Q	ENSP00000303412:E78Q	E	+	1	0	FAM98B	36544776	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.040000	0.93783	2.622000	0.88805	0.585000	0.79938	GAG		0.294	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		C	38757484	G	C	38757484	3	2	93	1	0	0	0	0	1	0	0	0	5657	943	33	3	242	3	FAM98B	15	38757484	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	1367303	38757484	63773908	65	4854											
SENP8	123228	genome.wustl.edu	37	15	72432489	72432489	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr15:72432489T>A	ENST00000542035.2	+	2	858	c.525T>A	c.(523-525)tgT>tgA	p.C175*	SENP8_ENST00000340912.4_Nonsense_Mutation_p.C175*|RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Nonsense_Mutation_p.C175*|SENP8_ENST00000544171.1_Nonsense_Mutation_p.C175*	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	175							cysteine-type peptidase activity (GO:0008234)	p.C175*(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						AGGCCTTGTGTCAGAACTTCT	0.468																																																1	Substitution - Nonsense(1)	ovary(1)	15											115	110	111					15																	72432489		2199	4297	6496	70219543	SO:0001587	stop_gained	123228			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.525T>A	15.37:g.72432489T>A	ENSP00000446057:p.Cys175*		70219543	Q96QA4	Nonsense_Mutation	SNP	ENST00000542035.2	37	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	T	37	6.488930	0.97607	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	.	.	.	5.86	0.997	0.19851	.	0.048858	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3676	10.0397	0.42151	0.0:0.3912:0.0:0.6088	.	.	.	.	X	175	.	ENSP00000340505:C175X	C	+	3	2	SENP8	70219543	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	0.574000	0.23714	-0.071000	0.12886	0.528000	0.53228	TGT		0.468	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		A	72432489	T	A	72432489	4	1	93	1	0	0	0	0	0	1	0	0	14055	1673	58	5	527	5	SENP8	15	72432489	Nonsense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09	33675005	72432489	30098903	66	4855											
CCDC33	80125	genome.wustl.edu	37	15	74560788	74560788	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr15:74560788A>T	ENST00000398814.3	+	5	966	c.535A>T	c.(535-537)Atg>Ttg	p.M179L	CCDC33_ENST00000321288.5_Missense_Mutation_p.M382L	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	382								p.M179L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGCAACCACATGGCTCTGGA	0.622																																																1	Substitution - Missense(1)	ovary(1)	15											39	44	42					15																	74560788		1921	4141	6062	72347841	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.535A>T	15.37:g.74560788A>T	ENSP00000381795:p.Met179Leu		72347841	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	A	0.657	-0.807323	0.02819	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.19669	2.13;2.43	4.69	3.57	0.40892	.	0.596788	0.14684	N	0.304556	T	0.07908	0.0198	N	0.03608	-0.345	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.39683	-0.9602	10	0.11485	T	0.65	.	6.8736	0.24135	0.8925:0.0:0.1075:0.0	.	382;179	C9JFX2;Q8N5R6-6	.;.	L	382;179	ENSP00000325012:M382L;ENSP00000381795:M179L	ENSP00000325012:M382L	M	+	1	0	CCDC33	72347841	0.994000	0.37717	0.799000	0.32177	0.117000	0.20001	2.246000	0.43142	0.661000	0.30985	0.421000	0.28195	ATG		0.622	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		T	74560788	A	T	74560788	3	4	93	1	0	0	0	0	1	0	0	0	2806	217	8	5	553	5	CCDC33	15	74560788	Missense_Mutation	SNP	A	TCGA-13-0884-01B-01W-0494-09	2128299	74560788	27970604	67	4856											
GSPT1	2935	genome.wustl.edu	37	16	11990467	11990467	+	Silent	SNP	C	C	A	rs187177338		TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr16:11990467C>A	ENST00000563468.1	-	2	224	c.198G>T	c.(196-198)ccG>ccT	p.P66P	GSPT1_ENST00000420576.2_Silent_p.P66P|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Silent_p.P204P|GSPT1_ENST00000439887.2_Silent_p.P203P			P15170	ERF3A_HUMAN	G1 to S phase transition 1	66					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)	p.P66P(1)		breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GAGCACCTGGCGGTGCAACCA	0.468																																																1	Substitution - coding silent(1)	ovary(1)	16											87	83	84					16																	11990467		1932	4134	6066	11897968	SO:0001819	synonymous_variant	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.198G>T	16.37:g.11990467C>A			11897968	J3KQG6|Q96GF2	Silent	SNP	ENST00000563468.1	37	CCDS45414.1																																																																																				0.468	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		A	11990467	C	A	11990467	2	1	93	1	0	0	0	0	0	0	0	1	6826	755	27	3		3	GSPT1	16	11990467	Silent	SNP	C	TCGA-13-0884-01B-01W-0494-09		11990467	78364286	68	4857											
ACSM5	54988	genome.wustl.edu	37	16	20448643	20448643	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr16:20448643T>C	ENST00000331849.4	+	12	1637	c.1490T>C	c.(1489-1491)gTc>gCc	p.V497A	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	497					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.V497A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CATCCTGCTGTCCTGGAGTCG	0.577																																																1	Substitution - Missense(1)	ovary(1)	16											64	65	64					16																	20448643		2203	4300	6503	20356144	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1490T>C	16.37:g.20448643T>C	ENSP00000327916:p.Val497Ala		20356144	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.697859	0.68386	.	.	ENSG00000183549	ENST00000331849	T	0.72282	-0.64	4.89	4.89	0.63831	AMP-dependent synthetase/ligase (1);	0.000000	0.53938	D	0.000055	D	0.88851	0.6549	H	0.96720	3.87	0.46167	D	0.9989	D	0.76494	0.999	D	0.80764	0.994	D	0.92320	0.5865	10	0.87932	D	0	-28.1269	13.7725	0.63034	0.0:0.0:0.0:1.0	.	497	Q6NUN0	ACSM5_HUMAN	A	497	ENSP00000327916:V497A	ENSP00000327916:V497A	V	+	2	0	ACSM5	20356144	1.000000	0.71417	0.986000	0.45419	0.603000	0.37013	4.903000	0.63272	1.954000	0.56735	0.528000	0.53228	GTC		0.577	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		C	20448643	T	C	20448643	3	2	93	1	0	0	0	0	1	0	0	0	187	1667	58	4	1532	4	ACSM5	16	20448643	Missense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09	8458176	20448643	69906110	69	4858											
ACSM5	54988	genome.wustl.edu	37	16	20448680	20448680	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr16:20448680C>G	ENST00000331849.4	+	12	1674	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	509					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.I509M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CAGACCCCATCAGGGGAGAGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	16											41	42	41					16																	20448680		2203	4297	6500	20356181	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1527C>G	16.37:g.20448680C>G	ENSP00000327916:p.Ile509Met		20356181	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345772	0.41599	.	.	ENSG00000183549	ENST00000331849	T	0.58210	0.35	4.89	2.89	0.33648	.	0.195307	0.35708	N	0.003024	T	0.45256	0.1333	L	0.42744	1.35	0.27199	N	0.960215	P	0.42785	0.79	B	0.42422	0.387	T	0.38972	-0.9636	10	0.62326	D	0.03	-11.161	9.448	0.38710	0.0:0.7742:0.1447:0.0811	.	509	Q6NUN0	ACSM5_HUMAN	M	509	ENSP00000327916:I509M	ENSP00000327916:I509M	I	+	3	3	ACSM5	20356181	0.455000	0.25736	0.998000	0.56505	0.991000	0.79684	0.166000	0.16583	0.552000	0.29026	0.650000	0.86243	ATC		0.567	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		G	20448680	C	G	20448680	3	3	93	1	0	0	0	0	1	0	0	0	187	816	29	3	1569	3	ACSM5	16	20448680	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	37	20448680	69906073	70	4859											
DNAH3	55567	genome.wustl.edu	37	16	20974772	20974772	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr16:20974772A>C	ENST00000261383.3	-	53	10433	c.10434T>G	c.(10432-10434)tgT>tgG	p.C3478W	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3478					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.C3478W(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGGCCGCAAACATCGAAGGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	16											97	82	87					16																	20974772		2201	4300	6501	20882273	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10434T>G	16.37:g.20974772A>C	ENSP00000261383:p.Cys3478Trp		20882273	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938800	0.34189	.	.	ENSG00000158486	ENST00000261383	T	0.09073	3.02	5.39	1.92	0.25849	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42137	-0.9469	10	0.87932	D	0	.	9.8806	0.41231	0.6575:0.0:0.3425:0.0	.	3478	Q8TD57	DYH3_HUMAN	W	3478	ENSP00000261383:C3478W	ENSP00000261383:C3478W	C	-	3	2	DNAH3	20882273	0.996000	0.38824	0.873000	0.34254	0.890000	0.51754	1.442000	0.35046	0.053000	0.16036	0.460000	0.39030	TGT		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		C	20974772	A	C	20974772	3	2	93	1	0	0	0	0	1	0	0	0	4603	41	2	5	1955	5	DNAH3	16	20974772	Missense_Mutation	SNP	A	TCGA-13-0884-01B-01W-0494-09	526092	20974772	69379981	71	4860											
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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"	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	17	GRCh37	CM004908	TP53	M							62	48	53					17																	7574003		2203	4300	6503	7514728	SO:0001587	stop_gained	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		7514728	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7574003	G	A	7574003	4	1	93	1	0	0	0	0	0	1	0	0	16381	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09		7574003	73621207	72	4861											
CNTNAP1	8506	genome.wustl.edu	37	17	40842770	40842770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr17:40842770G>A	ENST00000264638.4	+	13	2086	c.1869G>A	c.(1867-1869)tgG>tgA	p.W623*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	623	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.W623*(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACCGAGCGTGGACAGTTGTGC	0.597																																																1	Substitution - Nonsense(1)	ovary(1)	17											124	118	120					17																	40842770		2203	4300	6503	38096296	SO:0001587	stop_gained	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1869G>A	17.37:g.40842770G>A	ENSP00000264638:p.Trp623*		38096296		Nonsense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	41	8.739603	0.98935	.	.	ENSG00000108797	ENST00000264638	.	.	.	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	.	.	.	X	623	.	ENSP00000264638:W623X	W	+	3	0	CNTNAP1	38096296	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.744000	0.98853	2.769000	0.95229	0.655000	0.94253	TGG		0.597	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		A	40842770	G	A	40842770	4	1	93	1	0	0	0	0	0	1	0	0	3646	1183	41	2	1919	2	CNTNAP1	17	40842770	Nonsense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	33268767	40842770	40352440	73	4862											
DDX42	11325	genome.wustl.edu	37	17	61895513	61895513	+	Missense_Mutation	SNP	C	C	T	rs533590615		TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr17:61895513C>T	ENST00000578681.1	+	19	3173	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	DDX42_ENST00000457800.2_Missense_Mutation_p.R858W|DDX42_ENST00000583590.1_Missense_Mutation_p.R858W|DDX42_ENST00000389924.2_Missense_Mutation_p.R858W|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000359353.5_Missense_Mutation_p.R739W	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	858	Gly-rich.|His-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R858W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGATGGCCATCGGCACGGGGA	0.567													C|||	1	0.000199681	0	0.0014	5008	,	,		18490	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	17											82	81	82					17																	61895513		2203	4300	6503	59249245	SO:0001583	missense	11325			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2572C>T	17.37:g.61895513C>T	ENSP00000464050:p.Arg858Trp		59249245	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092523	0.36952	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.22539	1.95;1.95	5.06	4.09	0.47781	.	0.978663	0.08392	N	0.952792	T	0.37705	0.1013	L	0.56769	1.78	0.52099	D	0.999944	D;D	0.69078	0.997;0.99	P;B	0.59889	0.865;0.336	T	0.06267	-1.0836	10	0.87932	D	0	-1.8055	7.7976	0.29156	0.1605:0.7579:0.0:0.0817	.	404;858	B3KV84;Q86XP3	.;DDX42_HUMAN	W	858;858;575	ENSP00000374574:R858W;ENSP00000390121:R858W	ENSP00000352308:R575W	R	+	1	2	DDX42	59249245	0.996000	0.38824	0.999000	0.59377	0.646000	0.38490	3.394000	0.52551	1.353000	0.45828	0.467000	0.42956	CGG		0.567	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		T	61895513	C	T	61895513	3	4	93	1	0	0	0	0	1	0	0	0	4362	875	31	1	2638	1	DDX42	17	61895513	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	21052743	61895513	19299697	74	4863											
SLC39A11	201266	genome.wustl.edu	37	17	71027735	71027735	+	Missense_Mutation	SNP	G	G	A	rs202154945		TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr17:71027735G>A	ENST00000542342.2	-	4	354	c.266C>T	c.(265-267)gCg>gTg	p.A89V	SLC39A11_ENST00000255559.3_Missense_Mutation_p.A89V|SLC39A11_ENST00000579732.1_Missense_Mutation_p.A89V	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	89					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.A89V(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GACAAAAGCCGCTCCAAGGGT	0.537																																					NSCLC(95;736 1527 12296 39625 41839)											1	Substitution - Missense(1)	ovary(1)	17											91	87	88					17																	71027735		2203	4300	6503	68539330	SO:0001583	missense	201266			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"Solute carriers"	14463	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 26"	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.266C>T	17.37:g.71027735G>A	ENSP00000445829:p.Ala89Val		68539330	B2R8H7|Q8WZ81	Missense_Mutation	SNP	ENST00000542342.2	37	CCDS54160.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957194	0.92726	.	.	ENSG00000133195	ENST00000542342;ENST00000255559	T;T	0.48201	0.82;0.82	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.45744	1.44	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.79784	0.993;0.79	T	0.53906	-0.8372	10	0.21540	T	0.41	.	17.6607	0.88192	0.0:0.0:1.0:0.0	.	89;89	Q8N1S5;Q8N1S5-2	S39AB_HUMAN;.	V	89	ENSP00000445829:A89V;ENSP00000255559:A89V	ENSP00000255559:A89V	A	-	2	0	SLC39A11	68539330	1.000000	0.71417	0.163000	0.22734	0.946000	0.59487	8.563000	0.90723	2.514000	0.84764	0.655000	0.94253	GCG		0.537	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1			A	71027735	G	A	71027735	3	1	93	1	0	0	0	0	1	0	0	0	14617	1087	38	1	790	1	SLC39A11	17	71027735	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	9132222	71027735	10167475	75	4864											
POLI	11201	genome.wustl.edu	37	18	51800324	51800324	+	Silent	SNP	C	C	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	A	C	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr18:51800324C>A	ENST00000579534.1	+	3	413	c.270C>A	c.(268-270)acC>acA	p.T90T	POLI_ENST00000406285.3_Silent_p.T90T|POLI_ENST00000579434.1_5'UTR|POLI_ENST00000217800.5_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	90	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.T65T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TGGTGGTTACCTGCAACTATG	0.328								DNA polymerases (catalytic subunits)																																								1	Substitution - coding silent(1)	ovary(1)	18											47	47	47					18																	51800324		2202	4300	6502	50054322	SO:0001819	synonymous_variant	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.270C>A	18.37:g.51800324C>A			50054322	Q8N590|Q9H0S1|Q9NYH6	Silent	SNP	ENST00000579534.1	37	CCDS11954.2																																																																																				0.328	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		A	51800324	C	A	51800324	2	1	93	1	0	0	0	0	0	0	0	1	12203	668	24	3		3	POLI	18	51800324	Silent	SNP	C	TCGA-13-0884-01B-01W-0494-09		51800324	26276924	76	4865											
SLC1A6	6511	genome.wustl.edu	37	19	15067395	15067395	+	Silent	SNP	G	G	A	rs140480842	byFrequency	TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr19:15067395G>A	ENST00000221742.3	-	6	1069	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	SLC1A6_ENST00000430939.2_Silent_p.A290A|SLC1A6_ENST00000600144.1_Intron	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	354					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.A354A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGACAATGCCGGCATGGAGGA	0.587													N|||	5	0.000998403	0.0038	0	5008	,	,		19889	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19								12,4394	19.1+/-41.9	0,12,2191	191	153	166		1062	-6.6	0	19	dbSNP_134	166	0,8600		0,0,4300	no	coding-synonymous	SLC1A6	NM_005071.1		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		354/565	15067395	12,12994	2203	4300	6503	14928395	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1062C>T	19.37:g.15067395G>A			14928395	Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1																																																																																				0.587	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		A	15067395	G	A	15067395	2	1	93	1	0	0	0	0	0	0	0	1	14439	1103	39	1		1	SLC1A6	19	15067395	Silent	SNP	G	TCGA-13-0884-01B-01W-0494-09		15067395	44061588	77	4866											
CCDC8	83987	genome.wustl.edu	37	19	46915369	46915369	+	Silent	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr19:46915369G>A	ENST00000307522.3	-	1	1472	c.699C>T	c.(697-699)agC>agT	p.S233S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	233					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S233S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ATACCCCTGCGCTCTCCACTG	0.711																																																1	Substitution - coding silent(1)	ovary(1)	19											20	23	22					19																	46915369		2194	4284	6478	51607209	SO:0001819	synonymous_variant	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.699C>T	19.37:g.46915369G>A			51607209	Q8TB26	Silent	SNP	ENST00000307522.3	37	CCDS12685.1																																																																																				0.711	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		A	46915369	G	A	46915369	2	1	93	1	0	0	0	0	0	0	0	1	2853	1078	38	1		1	CCDC8	19	46915369	Silent	SNP	G	TCGA-13-0884-01B-01W-0494-09	31847974	46915369	12213614	78	4867											
NLRP9	338321	genome.wustl.edu	37	19	56241220	56241220	+	Silent	SNP	A	A	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr19:56241220A>T	ENST00000332836.2	-	3	1998	c.1971T>A	c.(1969-1971)ccT>ccA	p.P657P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	657						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.P657P(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTACAAACAGGCTGAGCCA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	19											82	81	81					19																	56241220		2203	4300	6503	60933032	SO:0001819	synonymous_variant	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1971T>A	19.37:g.56241220A>T			60933032	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																				0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		T	56241220	A	T	56241220	2	4	93	1	0	0	0	0	0	0	0	1	10484	175	7	5		5	NLRP9	19	56241220	Silent	SNP	A	TCGA-13-0884-01B-01W-0494-09	9325851	56241220	2887763	79	4868											
CDC25B	994	genome.wustl.edu	37	20	3783558	3783558	+	Splice_Site	SNP	C	C	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr20:3783558C>G	ENST00000245960.5	+	12	1893	c.1196C>G	c.(1195-1197)gCc>gGc	p.A399G	CDC25B_ENST00000340833.4_Splice_Site_p.A358G|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Splice_Site_p.A308G|CDC25B_ENST00000439880.2_Splice_Site_p.A385G|CDC25B_ENST00000344256.6_Splice_Site_p.A335G	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	399					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.A420G(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCCCTTCAGGCCTTCCTCCTA	0.483																																																1	Substitution - Missense(1)	ovary(1)	20											128	99	109					20																	3783558		2203	4300	6503	3731558	SO:0001630	splice_region_variant	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1195-1C>G	20.37:g.3783558C>G			3731558	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211941	0.39102	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.96	4.96	0.65561	Rhodanese-like (2);	0.118487	0.56097	D	0.000031	T	0.22859	0.0552	L	0.34521	1.04	0.58432	D	0.999999	P;P;P;P;P;P	0.38863	0.511;0.511;0.511;0.644;0.644;0.65	B;B;B;B;B;B	0.35899	0.106;0.163;0.106;0.213;0.213;0.106	T	0.03566	-1.1024	10	0.13853	T	0.58	-15.9991	16.0693	0.80911	0.0:1.0:0.0:0.0	.	308;321;335;358;385;399	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	G	335;308;399;385;358	ENSP00000339125:A335G;ENSP00000368918:A308G;ENSP00000245960:A399G;ENSP00000405972:A385G;ENSP00000339170:A358G	ENSP00000245960:A399G	A	+	2	0	CDC25B	3731558	0.986000	0.35501	1.000000	0.80357	0.979000	0.70002	2.701000	0.47094	2.490000	0.84030	0.561000	0.74099	GCC		0.483	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874	Missense_Mutation	G	3783558	C	G	3783558	5	3	93	1	0	0	0	0	0	0	1	0	3063	753	26	3	1242	3	CDC25B	20	3783558	Splice_Site	SNP	C	TCGA-13-0884-01B-01W-0494-09		3783558	59241962	80	4869											
PLAGL2	5326	genome.wustl.edu	37	20	30789743	30789743	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr20:30789743G>A	ENST00000246229.4	-	2	503	c.239C>T	c.(238-240)gCt>gTt	p.A80V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	80					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A80V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTATTTGGAAGCAAAAGCCTT	0.522																																					Colon(163;15 1893 11280 16306 47518)											1	Substitution - Missense(1)	ovary(1)	20											70	61	64					20																	30789743		2203	4300	6503	30253404	SO:0001583	missense	5326				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.239C>T	20.37:g.30789743G>A	ENSP00000246229:p.Ala80Val		30253404	A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315880	0.23908	.	.	ENSG00000126003	ENST00000246229	T	0.15256	2.44	4.44	4.44	0.53790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.123193	0.56097	D	0.000033	T	0.10078	0.0247	N	0.25060	0.705	0.31511	N	0.663577	B	0.15141	0.012	B	0.11329	0.006	T	0.12915	-1.0529	10	0.08599	T	0.76	.	10.8328	0.46669	0.0863:0.0:0.9137:0.0	.	80	Q9UPG8	PLAL2_HUMAN	V	80	ENSP00000246229:A80V	ENSP00000246229:A80V	A	-	2	0	PLAGL2	30253404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.445000	0.60007	2.286000	0.76751	0.655000	0.94253	GCT		0.522	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		A	30789743	G	A	30789743	3	1	93	1	0	0	0	0	1	0	0	0	12020	971	34	2	1259	2	PLAGL2	20	30789743	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	27006185	30789743	32235777	81	4870											
BPIL3	128859	genome.wustl.edu	37	20	31622567	31622567	+	Splice_Site	SNP	A	A	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr20:31622567A>G	ENST00000349552.1	+	4	302		c.e4-1			NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6							extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.?(1)									TCTGTCCTCCAGCTTCATGGG	0.587																																																1	Unknown(1)	ovary(1)	20											95	82	86					20																	31622567		2203	4300	6503	31086228	SO:0001630	splice_region_variant	128859			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.303-1A>G	20.37:g.31622567A>G			31086228		Splice_Site	SNP	ENST00000349552.1	37	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994626	0.54041	.	.	ENSG00000167104	ENST00000349552	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.958	0.41680	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFB6	31086228	0.997000	0.39634	0.999000	0.59377	0.879000	0.50718	2.695000	0.47043	1.663000	0.50791	0.418000	0.28097	.		0.587	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897	Intron	G	31622567	A	G	31622567	5	3	93	1	0	0	0	0	0	0	1	0	1493	202	7	4	315	4	BPIL3	20	31622567	Splice_Site	SNP	A	TCGA-13-0884-01B-01W-0494-09	832824	31622567	31402953	82	4871											
C20orf152	140894	genome.wustl.edu	37	20	34568441	34568441	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr20:34568441G>T	ENST00000373973.3	+	4	477	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	CNBD2_ENST00000538900.1_Missense_Mutation_p.D102Y|CNBD2_ENST00000349339.1_Missense_Mutation_p.D102Y			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	102								p.D102Y(1)									GAGAACAGAGGATGAGATCCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	20											105	87	93					20																	34568441		2203	4300	6503	34031855	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.304G>T	20.37:g.34568441G>T	ENSP00000363084:p.Asp102Tyr		34031855	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37		.	.	.	.	.	.	.	.	.	.	G	10.36	1.327299	0.24080	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.84223	-1.82;-1.82;-1.82	5.15	-3.86	0.04230	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	3.546850	0.00481	N	0.000130	T	0.72771	0.3502	N	0.22421	0.69	0.09310	N	1	B;B	0.30511	0.185;0.282	B;B	0.24394	0.024;0.053	T	0.62086	-0.6928	10	0.59425	D	0.04	6.1039	4.7829	0.13211	0.243:0.2601:0.4218:0.0751	.	102;102	Q96M20;Q96M20-2	CT152_HUMAN;.	Y	102	ENSP00000363084:D102Y;ENSP00000340954:D102Y;ENSP00000442729:D102Y	ENSP00000340954:D102Y	D	+	1	0	C20orf152	34031855	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.924000	0.03996	-0.652000	0.05408	-1.291000	0.01355	GAT		0.542	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		T	34568441	G	T	34568441	3	4	93	1	0	0	0	0	1	0	0	0	2092	1174	41	3	318	3	C20orf152	20	34568441	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	2945874	34568441	28457079	83	4872											
DSCAM	1826	genome.wustl.edu	37	21	41725485	41725485	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr21:41725485C>T	ENST00000400454.1	-	5	1318	c.841G>A	c.(841-843)Gag>Aag	p.E281K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	281	Ig-like C2-type 3.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E281K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGAATGTTCTCAATGAGCAGC	0.552																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - Missense(1)	ovary(1)	21											73	71	72					21																	41725485		1953	4145	6098	40647355	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.841G>A	21.37:g.41725485C>T	ENSP00000383303:p.Glu281Lys		40647355	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163803	0.57476	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66460	-0.21;-0.21	5.32	5.32	0.75619	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	N	0.03903	-0.33	0.58432	D	0.999993	D	0.71674	0.998	D	0.79108	0.992	T	0.61461	-0.7058	10	0.10377	T	0.69	.	19.3377	0.94326	0.0:1.0:0.0:0.0	.	281	O60469	DSCAM_HUMAN	K	281;33	ENSP00000383303:E281K;ENSP00000385342:E33K	ENSP00000383303:E281K	E	-	1	0	DSCAM	40647355	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.354000	0.79424	2.634000	0.89283	0.655000	0.94253	GAG		0.552	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		T	41725485	C	T	41725485	3	4	93	1	0	0	0	0	1	0	0	0	4768	835	29	2	5313	2	DSCAM	21	41725485	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09		41725485	6404410	84	4873											
TCF20	6942	genome.wustl.edu	37	22	42605820	42605820	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chr22:42605820G>C	ENST00000359486.3	-	1	5628	c.5492C>G	c.(5491-5493)aCt>aGt	p.T1831S	TCF20_ENST00000335626.4_Missense_Mutation_p.T1831S|TCF20_ENST00000404876.1_Missense_Mutation_p.T132S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1831					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.T1831S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACCTTCTGAAGTGGTGGGCAC	0.542																																																1	Substitution - Missense(1)	ovary(1)	22											125	128	127					22																	42605820		2203	4300	6503	40935764	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5492C>G	22.37:g.42605820G>C	ENSP00000352463:p.Thr1831Ser		40935764	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	2.025	-0.423903	0.04734	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.67698	0.34;0.34;-0.28	6.07	4.87	0.63330	.	0.147419	0.46758	D	0.000275	T	0.49184	0.1542	N	0.11560	0.145	0.35667	D	0.812983	B;B	0.16166	0.016;0.01	B;B	0.16289	0.015;0.007	T	0.54221	-0.8326	10	0.42905	T	0.14	-11.2034	16.2658	0.82579	0.073:0.0:0.927:0.0	.	1831;1831	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	S	1831;1831;132	ENSP00000352463:T1831S;ENSP00000335561:T1831S;ENSP00000385531:T132S	ENSP00000335561:T1831S	T	-	2	0	TCF20	40935764	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.105000	0.41825	2.884000	0.98904	0.655000	0.94253	ACT		0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		C	42605820	G	C	42605820	3	2	93	1	0	0	0	0	1	0	0	0	15690	1029	36	3	428	3	TCF20	22	42605820	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09		42605820	8698746	85	4874											
MXRA5	25878	genome.wustl.edu	37	X	3248743	3248743	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chrX:3248743T>G	ENST00000217939.6	-	3	414	c.260A>C	c.(259-261)cAc>cCc	p.H87P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	87						extracellular vesicular exosome (GO:0070062)		p.H87P(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCATTGCCGTGAATCATAAG	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											118	103	108					X																	3248743		2203	4300	6503	3258743	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.260A>C	X.37:g.3248743T>G	ENSP00000217939:p.His87Pro		3258743	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597973	0.46318	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02395	4.31	3.68	3.68	0.42216	.	0.000000	0.38111	U	0.001813	T	0.09949	0.0244	L	0.46614	1.455	0.38045	D	0.935585	D	0.89917	1.0	D	0.91635	0.999	T	0.05305	-1.0893	10	0.87932	D	0	.	12.2165	0.54410	0.0:0.0:0.0:1.0	.	87	Q9NR99	MXRA5_HUMAN	P	87	ENSP00000217939:H87P	ENSP00000217939:H87P	H	-	2	0	MXRA5	3258743	1.000000	0.71417	0.010000	0.14722	0.300000	0.27592	6.421000	0.73353	1.309000	0.44985	0.341000	0.21757	CAC		0.423	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		G	3248743	T	G	3248743	3	3	93	1	0	0	0	0	1	0	0	0	10003	1696	59	5	8246	5	MXRA5	23	3248743	Missense_Mutation	SNP	T	TCGA-13-0884-01B-01W-0494-09		3248743	152021817	86	4875											
PTCHD1	139411	genome.wustl.edu	37	X	23411370	23411370	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chrX:23411370A>G	ENST00000379361.4	+	3	2595	c.1735A>G	c.(1735-1737)Acc>Gcc	p.T579A		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	579					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.T474A(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TCTAGAATACACCAAGGGGTT	0.388																																																1	Substitution - Missense(1)	ovary(1)	X											107	106	106					X																	23411370		2203	4300	6503	23321291	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1735A>G	X.37:g.23411370A>G	ENSP00000368666:p.Thr579Ala		23321291	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	3.489	-0.104233	0.06967	.	.	ENSG00000165186	ENST00000379361	D	0.84944	-1.92	5.69	5.69	0.88448	.	0.114888	0.64402	D	0.000010	T	0.69269	0.3092	N	0.08118	0	0.33307	D	0.565603	B	0.10296	0.003	B	0.14023	0.01	T	0.68743	-0.5328	10	0.15499	T	0.54	.	10.9815	0.47497	0.8463:0.1537:0.0:0.0	.	579	Q96NR3	PTHD1_HUMAN	A	579	ENSP00000368666:T579A	ENSP00000368666:T579A	T	+	1	0	PTCHD1	23321291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.883000	0.69721	1.904000	0.55121	0.486000	0.48141	ACC		0.388	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		G	23411370	A	G	23411370	3	3	93	1	0	0	0	0	1	0	0	0	12735	159	6	4	1745	4	PTCHD1	23	23411370	Missense_Mutation	SNP	A	TCGA-13-0884-01B-01W-0494-09	20162627	23411370	131859190	87	4876											
RGAG4	340526	genome.wustl.edu	37	X	71350666	71350666	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chrX:71350666C>T	ENST00000545866.1	-	1	1092	c.725G>A	c.(724-726)cGc>cAc	p.R242H	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R242H|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	242								p.R315H(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTTGAGCTTGCGAATGGCCTT	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											45	45	45					X																	71350666		1954	4142	6096	71267391	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.725G>A	X.37:g.71350666C>T	ENSP00000441366:p.Arg242His		71267391	A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891711	0.52014	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.14391	2.51;2.51	4.23	3.31	0.37934	Retrotransposon gag protein (1);	.	.	.	.	T	0.07908	0.0198	N	0.20685	0.6	0.24268	N	0.995255	B	0.21753	0.06	B	0.17722	0.019	T	0.36696	-0.9737	8	.	.	.	-0.7865	5.6841	0.17792	0.0:0.8384:0.0:0.1616	.	242	Q5HYW3	RGAG4_HUMAN	H	242	ENSP00000441366:R242H;ENSP00000418667:R242H	.	R	-	2	0	RGAG4	71267391	0.216000	0.23585	0.776000	0.31678	0.981000	0.71138	0.207000	0.17395	1.041000	0.40125	0.529000	0.55759	CGC		0.552	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		T	71350666	C	T	71350666	3	4	93	1	0	0	0	0	1	0	0	0	13278	768	27	1	988	1	RGAG4	23	71350666	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	47939296	71350666	83919894	88	4877											
ODZ1	10178	genome.wustl.edu	37	X	123517890	123517890	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chrX:123517890C>A	ENST00000371130.3	-	29	6933	c.6870G>T	c.(6868-6870)gaG>gaT	p.E2290D	TENM1_ENST00000422452.2_Missense_Mutation_p.E2297D|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2290					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E2292D(1)									GAGATGTAATCTCCGAGCTTG	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											130	125	126					X																	123517890		2203	4300	6503	123345571	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6870G>T	X.37:g.123517890C>A	ENSP00000360171:p.Glu2290Asp		123345571	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117001	0.56505	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86230	-2.09;-2.06	5.66	1.93	0.25924	.	0.185501	0.46145	D	0.000307	D	0.85609	0.5736	M	0.64260	1.97	0.48236	D	0.999616	P;D;D	0.59767	0.931;0.986;0.968	B;P;P	0.48270	0.388;0.572;0.504	T	0.82020	-0.0664	10	0.45353	T	0.12	.	8.9734	0.35921	0.0:0.4562:0.0:0.5437	.	2296;2297;2290	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	D	2290;2297	ENSP00000360171:E2290D;ENSP00000403954:E2297D	ENSP00000360171:E2290D	E	-	3	2	ODZ1	123345571	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	1.459000	0.35234	0.191000	0.20236	0.600000	0.82982	GAG		0.443	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123517890	C	A	123517890	3	1	93	1	0	0	0	0	1	0	0	0	10834	912	32	3	1319	3	ODZ1	23	123517890	Missense_Mutation	SNP	C	TCGA-13-0884-01B-01W-0494-09	52167224	123517890	31752670	89	4878											
MST4	51765	genome.wustl.edu	37	X	131207039	131207039	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0884-01B-01W-0494-09	TCGA-13-0884-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c5f0aa38-556b-401c-b4da-ac82cdc2e637	f7b01579-d17e-48c6-a067-b4bf738a4de2	g.chrX:131207039G>A	ENST00000354719.6	+	10	1288	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	MST4_ENST00000394335.2_Missense_Mutation_p.E305K|MST4_ENST00000394334.2_Missense_Mutation_p.E382K|MST4_ENST00000481105.1_Missense_Mutation_p.E404K|MST4_ENST00000496850.1_Missense_Mutation_p.E320K														p.E382K(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TGAAGAACTCGAGAAAAGTAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	X											63	69	67					X																	131207039		2198	4294	6492	131034720	SO:0001583	missense	51765																														ENST00000354719.6:c.1072G>A	X.37:g.131207039G>A	ENSP00000346755:p.Glu358Lys		131034720		Missense_Mutation	SNP	ENST00000354719.6	37		.	.	.	.	.	.	.	.	.	.	g	19.86	3.905722	0.72868	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000004	T	0.38878	0.1057	L	0.49350	1.555	0.80722	D	1	B;B;B;B;B	0.30455	0.046;0.025;0.28;0.157;0.011	B;B;B;B;B	0.20767	0.014;0.008;0.031;0.031;0.008	T	0.13656	-1.0501	10	0.26408	T	0.33	.	19.0056	0.92849	0.0:0.0:1.0:0.0	.	404;358;320;305;382	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	K	382;404;358;305;320	ENSP00000377867:E382K;ENSP00000418753:E404K;ENSP00000346755:E358K;ENSP00000377868:E305K;ENSP00000419702:E320K	ENSP00000346755:E358K	E	+	1	0	AL109749.1	131034720	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	9.434000	0.97515	2.437000	0.82529	0.519000	0.50382	GAG		0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			A	131207039	G	A	131207039	3	1	93	1	0	0	0	0	1	0	0	0	9892	1059	37	1	1182	1	MST4	23	131207039	Missense_Mutation	SNP	G	TCGA-13-0884-01B-01W-0494-09	7689149	131207039	24063521	90	4879											
TARDBP	23435	genome.wustl.edu	37	1	11082452	11082452	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:11082452C>T	ENST00000240185.3	+	6	1100	c.986C>T	c.(985-987)gCa>gTa	p.A329V	TARDBP_ENST00000439080.2_Missense_Mutation_p.A213V|TARDBP_ENST00000315091.3_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	329	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A329V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GCCCAGGCAGCACTACAGAGC	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											64	61	62					1																	11082452		2203	4300	6503	11005039	SO:0001583	missense	23435			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.986C>T	1.37:g.11082452C>T	ENSP00000240185:p.Ala329Val		11005039	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	CCDS122.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703259	0.68501	.	.	ENSG00000120948	ENST00000240185;ENST00000439080	D;D	0.96334	-3.98;-3.98	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.986	D	0.95515	0.8589	10	0.13108	T	0.6	-20.6778	20.0826	0.97783	0.0:1.0:0.0:0.0	.	213;329	B4DJ45;Q13148	.;TADBP_HUMAN	V	329;213	ENSP00000240185:A329V;ENSP00000404666:A213V	ENSP00000240185:A329V	A	+	2	0	TARDBP	11005039	1.000000	0.71417	0.930000	0.37139	0.976000	0.68499	7.544000	0.82117	2.746000	0.94184	0.655000	0.94253	GCA		0.527	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		T	11082452	C	T	11082452	3	4	94	1	0	0	0	0	1	0	0	0	15557	710	25	2	1004	2	TARDBP	1	11082452	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09		11082452	238168169	1	4880											
UBR4	23352	genome.wustl.edu	37	1	19443907	19443907	+	Splice_Site	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:19443907T>A	ENST00000375254.3	-	73	10658	c.10631A>T	c.(10630-10632)tAt>tTt	p.Y3544F	UBR4_ENST00000375217.2_Splice_Site_p.Y3537F|UBR4_ENST00000375226.2_Splice_Site_p.Y3520F|UBR4_ENST00000375267.2_Splice_Site_p.Y3544F|UBR4_ENST00000375218.3_5'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y3544F(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCTTGATATACTAAATACA	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											100	87	92					1																	19443907		2203	4300	6503	19316494	SO:0001630	splice_region_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10630-1A>T	1.37:g.19443907T>A			19316494	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049773	0.55218	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.22134	1.97;1.97;1.98;1.98	5.21	5.21	0.72293	.	0.054171	0.64402	D	0.000001	T	0.10680	0.0261	N	0.08118	0	0.80722	D	1	B	0.28055	0.199	B	0.23419	0.046	T	0.21143	-1.0254	10	0.13470	T	0.59	.	14.2023	0.65712	0.0:0.0:0.0:1.0	.	3544	Q5T4S7	UBR4_HUMAN	F	3544;3544;3537;3520	ENSP00000364403:Y3544F;ENSP00000364416:Y3544F;ENSP00000364365:Y3537F;ENSP00000364374:Y3520F	ENSP00000364365:Y3537F	Y	-	2	0	UBR4	19316494	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.655000	0.83696	2.086000	0.62901	0.533000	0.62120	TAT		0.418	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Missense_Mutation	A	19443907	T	A	19443907	5	1	94	1	0	0	0	0	0	0	1	0	16904	1420	49	5	5056	5	UBR4	1	19443907	Splice_Site	SNP	T	TCGA-13-0885-01A-02W-0421-09	8361455	19443907	229806714	2	4881											
LDLRAP1	26119	genome.wustl.edu	37	1	25880417	25880417	+	Silent	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:25880417G>T	ENST00000374338.4	+	2	212	c.93G>T	c.(91-93)ctG>ctT	p.L31L	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	31					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)	p.L31L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGAGCTGCCTGAGAACT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	1											49	40	43					1																	25880417		2203	4300	6503	25753004	SO:0001819	synonymous_variant	26119			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.93G>T	1.37:g.25880417G>T			25753004	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Silent	SNP	ENST00000374338.4	37	CCDS30639.1																																																																																				0.622	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		T	25880417	G	T	25880417	2	4	94	1	0	0	0	0	0	0	0	1	8708	1306	46	3		3	LDLRAP1	1	25880417	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	6436510	25880417	223370204	3	4882											
HCRTR1	3061	genome.wustl.edu	37	1	32085249	32085249	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:32085249G>T	ENST00000373706.5	+	2	469	c.316G>T	c.(316-318)Gtg>Ttg	p.V106L	HCRTR1_ENST00000403528.2_Missense_Mutation_p.V106L|HCRTR1_ENST00000373705.1_Missense_Mutation_p.V106L|HCRTR1_ENST00000468521.1_Intron			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	106					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)	p.V106L(1)		breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CAGCCTGCTGGTGGACATCAC	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											119	85	97					1																	32085249		2203	4300	6503	31857836	SO:0001583	missense	3061			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.316G>T	1.37:g.32085249G>T	ENSP00000362810:p.Val106Leu		31857836	A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	CCDS344.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640615	0.67244	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.01446	4.88;4.88;4.88	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	L	0.41356	1.27	0.42774	D	0.993844	P;P	0.45986	0.667;0.87	P;P	0.46718	0.474;0.525	T	0.66763	-0.5841	10	0.12430	T	0.62	.	15.3972	0.74805	0.0:0.0:1.0:0.0	.	106;106	A6NMV7;O43613	.;OX1R_HUMAN	L	106	ENSP00000384387:V106L;ENSP00000362810:V106L;ENSP00000362809:V106L	ENSP00000362809:V106L	V	+	1	0	HCRTR1	31857836	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	9.407000	0.97325	2.383000	0.81215	0.655000	0.94253	GTG		0.587	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		T	32085249	G	T	32085249	3	4	94	1	0	0	0	0	1	0	0	0	7001	1261	44	3	322	3	HCRTR1	1	32085249	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	6204832	32085249	217165372	4	4883											
SLC5A9	200010	genome.wustl.edu	37	1	48705048	48705048	+	Silent	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:48705048C>T	ENST00000438567.2	+	12	1568	c.1516C>T	c.(1516-1518)Ctg>Ttg	p.L506L	SLC5A9_ENST00000236495.5_Silent_p.L531L|SLC5A9_ENST00000533824.1_Silent_p.L527L	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	506					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L524L(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCGTATGATCCTGGAGTTCTC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	1											158	153	154					1																	48705048		2203	4300	6503	48477635	SO:0001819	synonymous_variant	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1516C>T	1.37:g.48705048C>T			48477635	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	CCDS30709.2																																																																																				0.602	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		T	48705048	C	T	48705048	2	4	94	1	0	0	0	0	0	0	0	1	14675	680	24	2		2	SLC5A9	1	48705048	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	16619799	48705048	200545573	5	4884											
CDCP2	200008	genome.wustl.edu	37	1	54605743	54605743	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:54605743T>A	ENST00000371330.1	-	4	1647	c.800A>T	c.(799-801)aAc>aTc	p.N267I	CDCP2_ENST00000530059.1_5'Flank|RP11-446E24.4_ENST00000525949.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	267	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.N267I(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCTGGAGAAGTTGCCCCGCAT	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											47	37	41					1																	54605743		2195	4280	6475	54378331	SO:0001583	missense	200008				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.800A>T	1.37:g.54605743T>A	ENSP00000360381:p.Asn267Ile		54378331	Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890690	0.72524	.	.	ENSG00000157211	ENST00000371330	T	0.26957	1.7	5.83	5.83	0.93111	CUB (5);	0.061993	0.64402	D	0.000005	T	0.38746	0.1052	L	0.28776	0.89	0.52099	D	0.999947	D	0.89917	1.0	D	0.73380	0.98	T	0.08106	-1.0738	10	0.30854	T	0.27	-34.8846	16.1883	0.81967	0.0:0.0:0.0:1.0	.	267	Q5VXM1	CDCP2_HUMAN	I	267	ENSP00000360381:N267I	ENSP00000360381:N267I	N	-	2	0	CDCP2	54378331	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	4.995000	0.63908	2.231000	0.72958	0.454000	0.30748	AAC		0.607	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		A	54605743	T	A	54605743	3	1	94	1	0	0	0	0	1	0	0	0	3094	1725	60	5	553	5	CDCP2	1	54605743	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	5900695	54605743	194644878	6	4885											
CYP2J2	1573	genome.wustl.edu	37	1	60359363	60359363	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:60359363G>T	ENST00000371204.3	-	9	1512	c.1469C>A	c.(1468-1470)tCc>tAc	p.S490Y	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	490					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)	p.S490Y(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	ACTGACTGGGGAAATGGTGAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											277	299	291					1																	60359363		2203	4300	6503	60131951	SO:0001583	missense	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1469C>A	1.37:g.60359363G>T	ENSP00000360247:p.Ser490Tyr		60131951	B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904598	0.33628	.	.	ENSG00000134716	ENST00000371204	T	0.68903	-0.36	5.88	4.95	0.65309	.	0.777101	0.12131	N	0.496771	T	0.68183	0.2973	M	0.70108	2.13	0.22918	N	0.998561	B	0.21147	0.052	B	0.30179	0.112	T	0.57888	-0.7733	10	0.25106	T	0.35	.	13.1845	0.59673	0.0:0.3062:0.6938:0.0	.	490	P51589	CP2J2_HUMAN	Y	490	ENSP00000360247:S490Y	ENSP00000360247:S490Y	S	-	2	0	CYP2J2	60131951	0.000000	0.05858	0.474000	0.27266	0.078000	0.17371	-0.258000	0.08733	1.459000	0.47892	0.655000	0.94253	TCC		0.443	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		T	60359363	G	T	60359363	3	4	94	1	0	0	0	0	1	0	0	0	4172	1174	41	3	43	3	CYP2J2	1	60359363	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	5753620	60359363	188891258	7	4886											
KANK4	163782	genome.wustl.edu	37	1	62737155	62737155	+	Silent	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:62737155G>A	ENST00000371153.4	-	4	2385	c.2007C>T	c.(2005-2007)aaC>aaT	p.N669N	KANK4_ENST00000354381.3_Silent_p.N41N|KANK4_ENST00000371150.1_Silent_p.N25N	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	669						cytoplasm (GO:0005737)		p.N669N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTTACCCACCGTTAACCCCAA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	1											197	182	187					1																	62737155		2203	4300	6503	62509743	SO:0001819	synonymous_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2007C>T	1.37:g.62737155G>A			62509743	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	CCDS620.1																																																																																				0.478	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		A	62737155	G	A	62737155	2	1	94	1	0	0	0	0	0	0	0	1	7979	1136	40	1		1	KANK4	1	62737155	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	2377792	62737155	186513466	8	4887											
KCNA3	3738	genome.wustl.edu	37	1	111216030	111216030	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:111216030C>T	ENST00000369769.2	-	1	1625	c.1402G>A	c.(1402-1404)Ggt>Agt	p.G468S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	468					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.G468S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GTCAAGACACCGGCGATGGCA	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											101	82	89					1																	111216030		2203	4300	6503	111017553	SO:0001583	missense	3738			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1402G>A	1.37:g.111216030C>T	ENSP00000358784:p.Gly468Ser		111017553	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727560	0.89390	.	.	ENSG00000177272	ENST00000369769	D	0.98889	-5.21	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99432	0.9799	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98920	1.0783	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	468	P22001	KCNA3_HUMAN	S	468	ENSP00000358784:G468S	ENSP00000358784:G468S	G	-	1	0	KCNA3	111017553	1.000000	0.71417	0.830000	0.32933	0.995000	0.86356	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GGT		0.527	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		T	111216030	C	T	111216030	3	4	94	1	0	0	0	0	1	0	0	0	8004	652	23	1	329	1	KCNA3	1	111216030	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	48478875	111216030	138034591	9	4888											
C1orf103	55791	genome.wustl.edu	37	1	111494210	111494210	+	Silent	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:111494210G>C	ENST00000369763.4	-	2	1686	c.1296C>G	c.(1294-1296)acC>acG	p.T432T	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.T432T(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAGCAAGCTGGGTATTGGAAA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	1											175	177	177					1																	111494210		2203	4300	6503	111295733	SO:0001819	synonymous_variant	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1296C>G	1.37:g.111494210G>C			111295733	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	CCDS30800.1																																																																																				0.398	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		C	111494210	G	C	111494210	2	2	94	1	0	0	0	0	0	0	0	1	1977	1219	43	3		3	C1orf103	1	111494210	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	278180	111494210	137756411	10	4889											
HIST2H2BE	8349	genome.wustl.edu	37	1	149857962	149857962	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:149857962C>G	ENST00000369155.2	-	1	270	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	77					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGGGAAGCCTCTCCCGCGATG	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											116	106	110					1																	149857962		2203	4298	6501	148124586	SO:0001583	missense	8349			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.229G>C	1.37:g.149857962C>G	ENSP00000358151:p.Glu77Gln		148124586	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	CCDS936.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057209	0.93846	.	.	ENSG00000184678	ENST00000369155	T	0.36340	1.26	5.88	5.88	0.94601	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	M	0.92077	3.27	0.41984	D	0.990813	D	0.61697	0.99	P	0.61658	0.892	T	0.72057	-0.4405	10	0.87932	D	0	.	18.8885	0.92389	0.0:1.0:0.0:0.0	.	77	Q16778	H2B2E_HUMAN	Q	77	ENSP00000358151:E77Q	ENSP00000358151:E77Q	E	-	1	0	HIST2H2BE	148124586	1.000000	0.71417	0.977000	0.42913	0.918000	0.54935	5.981000	0.70524	2.806000	0.96561	0.580000	0.79431	GAG		0.642	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		G	149857962	C	G	149857962	3	3	94	1	0	0	0	0	1	0	0	0	7179	922	32	3	155	3	HIST2H2BE	1	149857962	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	38363752	149857962	99392659	11	4890											
NES	10763	genome.wustl.edu	37	1	156639556	156639556	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:156639556C>T	ENST00000368223.3	-	4	4556	c.4424G>A	c.(4423-4425)gGt>gAt	p.G1475D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1475	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.G1475D(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCCACTGCACCCCTCAAGCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											49	53	51					1																	156639556		2203	4300	6503	154906180	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4424G>A	1.37:g.156639556C>T	ENSP00000357206:p.Gly1475Asp		154906180	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009774	0.35415	.	.	ENSG00000132688	ENST00000368223	D	0.86366	-2.11	4.55	-0.312	0.12758	.	0.254138	0.20733	N	0.086679	T	0.68714	0.3031	M	0.65498	2.005	0.09310	N	1	B	0.27997	0.197	B	0.21546	0.035	T	0.62992	-0.6736	10	0.87932	D	0	.	3.46	0.07529	0.0:0.3458:0.2055:0.4487	.	1475	P48681	NEST_HUMAN	D	1475	ENSP00000357206:G1475D	ENSP00000357206:G1475D	G	-	2	0	NES	154906180	0.000000	0.05858	0.002000	0.10522	0.535000	0.34838	-1.241000	0.02911	0.029000	0.15352	0.557000	0.71058	GGT		0.592	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		T	156639556	C	T	156639556	3	4	94	1	0	0	0	0	1	0	0	0	10337	507	18	2	445	2	NES	1	156639556	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	6781594	156639556	92611065	12	4891											
OR10J3	441911	genome.wustl.edu	37	1	159283647	159283647	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:159283647G>A	ENST00000332217.5	-	1	802	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S268F(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CTGTCCCAGGGAACTCTGGGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											127	111	116					1																	159283647		2203	4300	6503	157550271	SO:0001583	missense	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.803C>T	1.37:g.159283647G>A	ENSP00000331789:p.Ser268Phe		157550271		Missense_Mutation	SNP	ENST00000332217.5	37	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.514638	0.27123	.	.	ENSG00000196266	ENST00000332217	T	0.00277	8.34	5.34	2.49	0.30216	.	0.000000	0.32190	U	0.006441	T	0.00144	0.0004	M	0.86343	2.81	0.09310	N	1	B	0.17465	0.022	B	0.29598	0.104	T	0.48479	-0.9032	10	0.72032	D	0.01	.	8.9957	0.36050	0.2355:0.0:0.7645:0.0	.	268	Q5JRS4	O10J3_HUMAN	F	268	ENSP00000331789:S268F	ENSP00000331789:S268F	S	-	2	0	OR10J3	157550271	0.328000	0.24687	0.031000	0.17742	0.774000	0.43823	1.428000	0.34892	0.396000	0.25283	0.655000	0.94253	TCC		0.532	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			A	159283647	G	A	159283647	3	1	94	1	0	0	0	0	1	0	0	0	10911	1174	41	2	188	2	OR10J3	1	159283647	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	2644091	159283647	89966974	13	4892											
MPZL1	9019	genome.wustl.edu	37	1	167742563	167742563	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:167742563C>G	ENST00000359523.2	+	4	765	c.563C>G	c.(562-564)gCt>gGt	p.A188G	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Missense_Mutation_p.A188G	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	188					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)	p.A188G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ATGATTCTGGCTGTCCTCTAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											136	128	130					1																	167742563		2203	4300	6503	166009187	SO:0001583	missense	9019			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.563C>G	1.37:g.167742563C>G	ENSP00000352513:p.Ala188Gly		166009187	B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768504	0.49680	.	.	ENSG00000197965	ENST00000359523;ENST00000474859;ENST00000367853	D;D;D	0.97505	-3.94;-4.41;-4.39	4.36	3.43	0.39272	.	0.275580	0.27411	N	0.019495	D	0.90007	0.6880	L	0.27053	0.805	0.23036	N	0.9984	P;P	0.44816	0.844;0.629	B;B	0.44278	0.445;0.191	D	0.86934	0.2075	9	0.28530	T	0.3	.	8.738	0.34541	0.0:0.7044:0.1991:0.0965	.	188;188	O95297-3;O95297	.;MPZL1_HUMAN	G	188;188;162	ENSP00000352513:A188G;ENSP00000420455:A188G;ENSP00000356827:A162G	ENSP00000352513:A188G	A	+	2	0	MPZL1	166009187	0.999000	0.42202	0.996000	0.52242	0.997000	0.91878	2.209000	0.42806	1.113000	0.41760	0.563000	0.77884	GCT		0.458	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		G	167742563	C	G	167742563	3	3	94	1	0	0	0	0	1	0	0	0	9749	797	28	3	577	3	MPZL1	1	167742563	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	8458916	167742563	81508058	14	4893											
ASTN1	460	genome.wustl.edu	37	1	177001899	177001899	+	Silent	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:177001899G>C	ENST00000367654.3	-	3	769	c.558C>G	c.(556-558)gtC>gtG	p.V186V	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.V186V|ASTN1_ENST00000367657.3_Silent_p.V186V|ASTN1_ENST00000361833.2_Silent_p.V186V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	186					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.V186V(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGGCTGCGGGACCCGGCGGC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	1											39	39	39					1																	177001899		2203	4300	6503	175268522	SO:0001819	synonymous_variant	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.558C>G	1.37:g.177001899G>C			175268522	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																					0.607	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		C	177001899	G	C	177001899	2	2	94	1	0	0	0	0	0	0	0	1	1064	1161	41	3		3	ASTN1	1	177001899	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	9259336	177001899	72248722	15	4894											
FAM20B	9917	genome.wustl.edu	37	1	179013242	179013242	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:179013242T>G	ENST00000263733.4	+	2	596	c.260T>G	c.(259-261)gTc>gGc	p.V87G		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	87						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.V87G(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTGGGGGCAGTCATGCATGCC	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											66	67	67					1																	179013242		2203	4300	6503	177279865	SO:0001583	missense	9917			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.260T>G	1.37:g.179013242T>G	ENSP00000263733:p.Val87Gly		177279865	Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.499679	0.85176	.	.	ENSG00000116199	ENST00000440702;ENST00000263733	D	0.89552	-2.53	6.03	6.03	0.97812	.	0.217366	0.47852	D	0.000208	D	0.89280	0.6670	M	0.67397	2.05	0.51767	D	0.999932	B	0.30021	0.265	B	0.33690	0.168	D	0.88297	0.2947	10	0.87932	D	0	-16.0459	16.5724	0.84622	0.0:0.0:0.0:1.0	.	87	O75063	XYLK_HUMAN	G	87	ENSP00000263733:V87G	ENSP00000263733:V87G	V	+	2	0	FAM20B	177279865	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.665000	0.83852	2.313000	0.78055	0.455000	0.32223	GTC		0.527	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		G	179013242	T	G	179013242	3	3	94	1	0	0	0	0	1	0	0	0	5538	1667	58	5	262	5	FAM20B	1	179013242	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	2011343	179013242	70237379	16	4895											
DHX9	1660	genome.wustl.edu	37	1	182845604	182845604	+	Silent	SNP	A	A	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:182845604A>G	ENST00000367549.3	+	18	2162	c.2052A>G	c.(2050-2052)ctA>ctG	p.L684L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	684	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.L684L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ATCAGATTCTACCCCTGCATT	0.388																																					Colon(69;210 1162 3697 13559 39565)											1	Substitution - coding silent(1)	ovary(1)	1											98	85	89					1																	182845604		1838	4086	5924	181112227	SO:0001819	synonymous_variant	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2052A>G	1.37:g.182845604A>G			181112227	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	CCDS41444.1																																																																																				0.388	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		G	182845604	A	G	182845604	2	3	94	1	0	0	0	0	0	0	0	1	4516	378	14	4		4	DHX9	1	182845604	Silent	SNP	A	TCGA-13-0885-01A-02W-0421-09	3832362	182845604	66405017	17	4896											
RGL1	23179	genome.wustl.edu	37	1	183881302	183881302	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:183881302G>C	ENST00000360851.3	+	15	1827	c.1649G>C	c.(1648-1650)aGc>aCc	p.S550T	RGL1_ENST00000536277.1_Missense_Mutation_p.S548T|RGL1_ENST00000539189.1_Missense_Mutation_p.S521T|RGL1_ENST00000304685.4_Missense_Mutation_p.S585T			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	550	Ser-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S585T(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCTGGTGAAAGCATGGACTCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											89	80	83					1																	183881302		2203	4300	6503	182147925	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1649G>C	1.37:g.183881302G>C	ENSP00000354097:p.Ser550Thr		182147925	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	G	13.33	2.203671	0.38905	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.50277	0.78;0.78;0.79;0.79;0.75	5.32	5.32	0.75619	.	0.088928	0.85682	D	0.000000	T	0.57125	0.2032	L	0.36672	1.1	0.80722	D	1	B;B;D;B;B	0.56035	0.376;0.259;0.974;0.259;0.259	B;B;D;B;B	0.70487	0.104;0.048;0.969;0.048;0.048	T	0.52147	-0.8614	10	0.33141	T	0.24	.	14.2285	0.65875	0.0:0.1496:0.8504:0.0	.	521;548;355;550;585	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	T	585;585;548;355;550;521	ENSP00000303192:S585T;ENSP00000356501:S585T;ENSP00000438662:S548T;ENSP00000354097:S550T;ENSP00000437355:S521T	ENSP00000303192:S585T	S	+	2	0	RGL1	182147925	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	7.055000	0.76656	2.474000	0.83562	0.491000	0.48974	AGC		0.542	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		C	183881302	G	C	183881302	3	2	94	1	0	0	0	0	1	0	0	0	13279	971	34	3	1812	3	RGL1	1	183881302	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	1035698	183881302	65369319	18	4897											
C1orf26	54823	genome.wustl.edu	37	1	185143927	185143927	+	Silent	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:185143927C>T	ENST00000367500.4	+	5	813	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SWT1_ENST00000367501.3_Silent_p.N216N	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	216								p.N216N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGGATTATAACTCCAACAAGA	0.348																																																1	Substitution - coding silent(1)	ovary(1)	1											68	77	74					1																	185143927		2195	4298	6493	183410550	SO:0001819	synonymous_variant	54823			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.648C>T	1.37:g.185143927C>T			183410550	Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	ENST00000367500.4	37	CCDS1367.1																																																																																				0.348	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		T	185143927	C	T	185143927	2	4	94	1	0	0	0	0	0	0	0	1	2035	564	20	2		2	C1orf26	1	185143927	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	1262625	185143927	64106694	19	4898											
HMCN1	83872	genome.wustl.edu	37	1	185892578	185892578	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:185892578G>A	ENST00000271588.4	+	8	1307	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D360N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	360					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D360N(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCTAGAATAGATCTTCTTGA	0.338																																																1	Substitution - Missense(1)	ovary(1)	1											80	79	79					1																	185892578		2203	4300	6503	184159201	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1078G>A	1.37:g.185892578G>A	ENSP00000271588:p.Asp360Asn		184159201	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121995	0.94429	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64260	-0.08;-0.09	5.4	5.4	0.78164	.	0.045343	0.85682	D	0.000000	T	0.75369	0.3840	L	0.59436	1.845	0.58432	D	0.999999	D	0.76494	0.999	D	0.64144	0.922	T	0.74118	-0.3768	10	0.41790	T	0.15	.	19.194	0.93679	0.0:0.0:1.0:0.0	.	360	Q96RW7	HMCN1_HUMAN	N	360	ENSP00000271588:D360N;ENSP00000356462:D360N	ENSP00000271588:D360N	D	+	1	0	HMCN1	184159201	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.320000	0.72876	2.521000	0.84997	0.655000	0.94253	GAT		0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	185892578	G	A	185892578	3	1	94	1	0	0	0	0	1	0	0	0	7220	942	33	2	1108	2	HMCN1	1	185892578	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	748651	185892578	63358043	20	4899											
AVPR1B	553	genome.wustl.edu	37	1	206225003	206225003	+	Missense_Mutation	SNP	C	C	A	rs201027590		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:206225003C>A	ENST00000367126.4	+	1	1028	c.563C>A	c.(562-564)gCa>gAa	p.A188E	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	188					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.A188E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GACTGCTGGGCAGACTTCGGC	0.637													C|||	1	0.000199681	0	0.0014	5008	,	,		16441	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1						C	GLU/ALA	2,4402		0,2,2200	49	48	48		563	5.9	1	1		48	0,8584		0,0,4292	no	missense	AVPR1B	NM_000707.3	107	0,2,6492	AA,AC,CC		0.0,0.0454,0.0154	probably-damaging	188/425	206225003	2,12986	2202	4292	6494	204391626	SO:0001583	missense	553			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.563C>A	1.37:g.206225003C>A	ENSP00000356094:p.Ala188Glu		204391626	B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	CCDS30994.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.3	4.403448	0.83230	4.54E-4	0.0	ENSG00000198049	ENST00000367126	T	0.36157	1.27	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.69248	2.105	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.53049	-0.8493	10	0.34782	T	0.22	-15.6684	19.8771	0.96880	0.0:1.0:0.0:0.0	.	188	P47901	V1BR_HUMAN	E	188	ENSP00000356094:A188E	ENSP00000356094:A188E	A	+	2	0	AVPR1B	204391626	0.998000	0.40836	0.993000	0.49108	0.992000	0.81027	3.486000	0.53215	2.786000	0.95864	0.563000	0.77884	GCA		0.637	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		A	206225003	C	A	206225003	3	1	94	1	0	0	0	0	1	0	0	0	1232	710	25	3	565	3	AVPR1B	1	206225003	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	20332425	206225003	43025618	21	4900											
RYR2	6262	genome.wustl.edu	37	1	237656263	237656263	+	Missense_Mutation	SNP	G	G	A	rs397516520		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:237656263G>A	ENST00000366574.2	+	19	2154	c.1837G>A	c.(1837-1839)Gtc>Atc	p.V613I	RYR2_ENST00000360064.6_Missense_Mutation_p.V611I|RYR2_ENST00000542537.1_Missense_Mutation_p.V597I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	613	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V611I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTTCTGGATGTCTTGTGCTC	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											145	157	153					1																	237656263		1993	4164	6157	235722886	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1837G>A	1.37:g.237656263G>A	ENSP00000355533:p.Val613Ile		235722886	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112769	0.37242	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95690	-3.78;-3.78;-3.78	6.06	5.15	0.70609	Intracellular calcium-release channel (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000028	D	0.95242	0.8457	M	0.81497	2.545	0.80722	D	1	B	0.20164	0.042	B	0.25506	0.061	D	0.93322	0.6693	10	0.48119	T	0.1	.	15.3418	0.74303	0.0665:0.0:0.9335:0.0	.	613	Q92736	RYR2_HUMAN	I	613;611;597	ENSP00000355533:V613I;ENSP00000353174:V611I;ENSP00000443798:V597I	ENSP00000353174:V611I	V	+	1	0	RYR2	235722886	1.000000	0.71417	0.311000	0.25182	0.003000	0.03518	7.881000	0.87252	1.582000	0.49881	-0.142000	0.14014	GTC		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237656263	G	A	237656263	3	1	94	1	0	0	0	0	1	0	0	0	13772	1377	48	2	1911	2	RYR2	1	237656263	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	31431260	237656263	11594358	22	4901											
RYR2	6262	genome.wustl.edu	37	1	237880635	237880635	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:237880635G>C	ENST00000366574.2	+	72	10778	c.10461G>C	c.(10459-10461)gaG>gaC	p.E3487D	RYR2_ENST00000360064.6_Missense_Mutation_p.E3485D|RYR2_ENST00000542537.1_Missense_Mutation_p.E3471D|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3487					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E3485D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGACCAGGAGCTCATTGCTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											75	81	79					1																	237880635		1924	4116	6040	235947258	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10461G>C	1.37:g.237880635G>C	ENSP00000355533:p.Glu3487Asp		235947258	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404938	0.25378	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97016	-4.21;-4.18;-4.21	5.33	-2.93	0.05598	.	0.085593	0.44285	D	0.000474	D	0.90342	0.6978	L	0.33792	1.035	0.41668	D	0.98922	B	0.10296	0.003	B	0.13407	0.009	T	0.75741	-0.3211	10	0.27082	T	0.32	-15.7454	8.7918	0.34854	0.5402:0.0:0.3609:0.0989	.	3487	Q92736	RYR2_HUMAN	D	3487;3485;3471;442	ENSP00000355533:E3487D;ENSP00000353174:E3485D;ENSP00000443798:E3471D	ENSP00000353174:E3485D	E	+	3	2	RYR2	235947258	0.998000	0.40836	0.979000	0.43373	0.978000	0.69477	0.443000	0.21644	-0.367000	0.08052	0.655000	0.94253	GAG		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237880635	G	C	237880635	3	2	94	1	0	0	0	0	1	0	0	0	13772	962	34	3	10747	3	RYR2	1	237880635	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	224372	237880635	11369986	23	4902											
KIF26B	55083	genome.wustl.edu	37	1	245704225	245704225	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr1:245704225G>C	ENST00000407071.2	+	5	1763	c.1323G>C	c.(1321-1323)aaG>aaC	p.K441N	KIF26B_ENST00000366518.4_Missense_Mutation_p.K60N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	441					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.K441N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGTCAACAAGGTGAAGGACA	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											35	38	37					1																	245704225		1861	4085	5946	243770848	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1323G>C	1.37:g.245704225G>C	ENSP00000385545:p.Lys441Asn		243770848	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555320	0.45487	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.17213	2.29;2.29	5.29	3.18	0.36537	.	.	.	.	.	T	0.25531	0.0621	M	0.66939	2.045	0.47737	D	0.9995	P;P	0.52577	0.954;0.78	P;P	0.51582	0.59;0.674	T	0.02477	-1.1153	9	0.87932	D	0	.	6.3641	0.21445	0.4211:0.0:0.5789:0.0	.	60;441	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	441;60;57	ENSP00000385545:K441N;ENSP00000355475:K60N	ENSP00000355475:K60N	K	+	3	2	KIF26B	243770848	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.980000	0.49321	1.232000	0.43678	-0.136000	0.14681	AAG		0.607	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		C	245704225	G	C	245704225	3	2	94	1	0	0	0	0	1	0	0	0	8295	991	35	3	1341	3	KIF26B	1	245704225	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	7823590	245704225	3546396	24	4903											
KCNK3	3777	genome.wustl.edu	37	2	26950943	26950943	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr2:26950943G>T	ENST00000302909.3	+	2	817	c.692G>T	c.(691-693)gGc>gTc	p.G231V		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	231					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)	p.G231V(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	ATCCTTACGGGCCTCACGGTC	0.652																																					GBM(80;1457 1631 27100 45946)											1	Substitution - Missense(1)	ovary(1)	2											80	62	68					2																	26950943		2203	4300	6503	26804447	SO:0001583	missense	3777			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.692G>T	2.37:g.26950943G>T	ENSP00000306275:p.Gly231Val		26804447	Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573576	0.65765	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.61859	0.07	5.01	5.01	0.66863	Ion transport 2 (1);	0.110742	0.64402	D	0.000009	D	0.82990	0.5157	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88261	0.2923	10	0.87932	D	0	.	16.1656	0.81754	0.0:0.0:1.0:0.0	.	231	O14649	KCNK3_HUMAN	V	108;231	ENSP00000306275:G231V	ENSP00000306275:G231V	G	+	2	0	KCNK3	26804447	1.000000	0.71417	0.992000	0.48379	0.577000	0.36160	9.638000	0.98445	2.467000	0.83353	0.561000	0.74099	GGC		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		T	26950943	G	T	26950943	3	4	94	1	0	0	0	0	1	0	0	0	8067	1203	42	3	698	3	KCNK3	2	26950943	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09		26950943	216248430	25	4904											
ERLEC1	27248	genome.wustl.edu	37	2	54028849	54028849	+	Splice_Site	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr2:54028849G>A	ENST00000185150.4	+	8	880		c.e8-1		GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Splice_Site|ERLEC1_ENST00000405123.3_Splice_Site|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.?(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CTACTGAACAGGTTCAGAGCA	0.393																																																1	Unknown(1)	ovary(1)	2											99	89	92					2																	54028849		2203	4300	6503	53882353	SO:0001630	splice_region_variant	27248			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.750-1G>A	2.37:g.54028849G>A			53882353	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Splice_Site	SNP	ENST00000185150.4	37	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598577	0.87055	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERLEC1	53882353	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	.		0.393	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701	Intron	A	54028849	G	A	54028849	5	1	94	1	0	0	0	0	0	0	1	0	5231	1014	35	2	779	2	ERLEC1	2	54028849	Splice_Site	SNP	G	TCGA-13-0885-01A-02W-0421-09	27077906	54028849	189170524	26	4905											
ADRA2B	151	genome.wustl.edu	37	2	96781427	96781427	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr2:96781427C>A	ENST00000409345.3	-	1	557	c.462G>T	c.(460-462)caG>caT	p.Q154H		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	154					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.Q154H(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCTGGGGGCCCTGGTCGCCCT	0.647																																																1	Substitution - Missense(1)	ovary(1)	2											26	32	30					2																	96781427		2127	4243	6370	96145154	SO:0001583	missense	151			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.462G>T	2.37:g.96781427C>A	ENSP00000387281:p.Gln154His		96145154	Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471525	0.26423	.	.	ENSG00000222040	ENST00000409345	T	0.37058	1.22	4.65	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30103	0.0754	L	0.49513	1.565	0.09310	N	0.999999	B	0.19817	0.039	B	0.29440	0.102	T	0.40850	-0.9541	9	0.62326	D	0.03	.	1.8482	0.03163	0.1661:0.4946:0.1609:0.1784	.	154	P18089	ADA2B_HUMAN	H	154	ENSP00000387281:Q154H	ENSP00000387281:Q154H	Q	-	3	2	ADRA2B	96145154	0.071000	0.21146	0.990000	0.47175	0.926000	0.56050	0.088000	0.14979	0.177000	0.19895	-0.493000	0.04662	CAG		0.647	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			A	96781427	C	A	96781427	3	1	94	1	0	0	0	0	1	0	0	0	338	680	24	3	885	3	ADRA2B	2	96781427	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	42752578	96781427	146417946	27	4906											
MRPL30	51263	genome.wustl.edu	37	2	99812084	99812084	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr2:99812084G>T	ENST00000338148.3	+	6	600	c.402G>T	c.(400-402)atG>atT	p.M134I	MRPL30_ENST00000465432.1_3'UTR|C2orf15_ENST00000512183.2_Missense_Mutation_p.M134I	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	134						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.M134I(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AGGAGAACATGTCTAACACGT	0.483																																																1	Substitution - Missense(1)	ovary(1)	2											164	151	156					2																	99812084		2203	4300	6503	99178516	SO:0001583	missense	51263			AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"Mitochondrial ribosomal proteins / large subunits"	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.402G>T	2.37:g.99812084G>T	ENSP00000338057:p.Met134Ile		99178516	A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	G	9.096	1.003010	0.19121	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000338148;ENST00000409841	T;T;T	0.39406	1.08;1.08;1.08	4.26	3.37	0.38596	.	0.164425	0.64402	N	0.000004	T	0.30417	0.0764	L	0.52126	1.63	0.36268	D	0.855003	B	0.16396	0.017	B	0.09377	0.004	T	0.19353	-1.0308	10	0.19590	T	0.45	-20.337	5.427	0.16431	0.1035:0.0:0.6984:0.1981	.	134	Q8TCC3	RM30_HUMAN	I	134;147;134;134	ENSP00000420959:M134I;ENSP00000338057:M134I;ENSP00000386752:M134I	ENSP00000312464:M147I	M	+	3	0	C2orf15;MRPL30	99178516	1.000000	0.71417	0.947000	0.38551	0.609000	0.37215	3.534000	0.53568	1.145000	0.42336	0.585000	0.79938	ATG		0.483	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			T	99812084	G	T	99812084	3	4	94	1	0	0	0	0	1	0	0	0	9794	1377	48	3	420	3	MRPL30	2	99812084	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	3030657	99812084	143387289	28	4907											
AFF3	3899	genome.wustl.edu	37	2	100175346	100175346	+	Silent	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr2:100175346G>A	ENST00000409236.2	-	20	3388	c.3276C>T	c.(3274-3276)gaC>gaT	p.D1092D	AFF3_ENST00000317233.4_Silent_p.D1092D|AFF3_ENST00000409579.1_Silent_p.D1117D|AFF3_ENST00000356421.2_Silent_p.D1117D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1092					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.D1117D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCTTGAAATAGTCGATTAGTG	0.453											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	2											124	117	119					2																	100175346		2203	4300	6503	99541778	SO:0001819	synonymous_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3276C>T	2.37:g.100175346G>A		1349	99541778	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																				0.453	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		A	100175346	G	A	100175346	2	1	94	1	0	0	0	0	0	0	0	1	358	1020	36	2		2	AFF3	2	100175346	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	363262	100175346	143024027	29	4908											
DPP10	57628	genome.wustl.edu	37	2	116520158	116520158	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr2:116520158T>C	ENST00000410059.1	+	12	1565	c.1085T>C	c.(1084-1086)aTg>aCg	p.M362T	DPP10_ENST00000409163.1_Missense_Mutation_p.M312T|DPP10_ENST00000393147.2_Missense_Mutation_p.M366T|DPP10_ENST00000310323.8_Missense_Mutation_p.M355T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	362						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.M355T(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAATATGAGATGACATCAGAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											196	185	189					2																	116520158		2203	4300	6503	116236628	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1085T>C	2.37:g.116520158T>C	ENSP00000386565:p.Met362Thr		116236628	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	4.803	0.149246	0.09185	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.99	4.99	0.66335	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.460210	0.25159	N	0.032697	T	0.18215	0.0437	N	0.08118	0	0.39170	D	0.962576	B;B;B;B	0.23854	0.033;0.092;0.041;0.041	B;B;B;B	0.32090	0.086;0.039;0.103;0.14	T	0.12604	-1.0541	10	0.12430	T	0.62	-22.0884	14.0462	0.64706	0.0:0.0:0.0:1.0	.	355;366;358;362	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	T	362;312;366;355;312	ENSP00000386565:M362T;ENSP00000387038:M312T;ENSP00000376855:M366T;ENSP00000309066:M355T	ENSP00000309066:M355T	M	+	2	0	DPP10	116236628	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.004000	0.49513	2.106000	0.64143	0.454000	0.30748	ATG		0.353	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		C	116520158	T	C	116520158	3	2	94	1	0	0	0	0	1	0	0	0	4727	1464	51	4	1302	4	DPP10	2	116520158	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	16344812	116520158	126679215	30	4909											
GRB14	2888	genome.wustl.edu	37	2	165349680	165349680	+	Missense_Mutation	SNP	C	C	A	rs372841700		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr2:165349680C>A	ENST00000263915.3	-	14	2027	c.1489G>T	c.(1489-1491)Ggt>Tgt	p.G497C	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Missense_Mutation_p.G410C	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	497	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.G497C(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AACATTTCACCGTCATCTTCT	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											87	100	95					2																	165349680		2203	4300	6503	165057926	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1489G>T	2.37:g.165349680C>A	ENSP00000263915:p.Gly497Cys		165057926	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885983	0.72410	.	.	ENSG00000115290	ENST00000263915;ENST00000543549	T;T	0.44482	0.92;0.92	5.48	5.48	0.80851	SH2 motif (4);	0.047212	0.85682	D	0.000000	T	0.76550	0.4003	H	0.95816	3.725	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.83275	0.969;0.996	D	0.84001	0.0343	10	0.87932	D	0	-10.9655	19.3681	0.94473	0.0:1.0:0.0:0.0	.	410;497	B7Z7F9;Q14449	.;GRB14_HUMAN	C	497;410	ENSP00000263915:G497C;ENSP00000443699:G410C	ENSP00000263915:G497C	G	-	1	0	GRB14	165057926	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	5.920000	0.70017	2.556000	0.86216	0.655000	0.94253	GGT		0.393	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			A	165349680	C	A	165349680	3	1	94	1	0	0	0	0	1	0	0	0	6757	652	23	3	137	3	GRB14	2	165349680	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	48829522	165349680	77849693	31	4910											
TTN	7273	genome.wustl.edu	37	2	179407087	179407087	+	Missense_Mutation	SNP	C	C	T	rs55915651		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr2:179407087C>T	ENST00000591111.1	-	299	92697	c.92473G>A	c.(92473-92475)Gaa>Aaa	p.E30825K	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23593K|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23526K|TTN_ENST00000460472.2_Missense_Mutation_p.E23401K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32466K|TTN_ENST00000342992.6_Missense_Mutation_p.E29898K			Q8WZ42	TITIN_HUMAN	titin	30825	Fibronectin type-III 124. {ECO:0000255|PROSITE-ProRule:PRU00316}.		E -> K. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E29896K(1)|p.E23401K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATTTCCTTCGGTGAGTCTG	0.502													C|||	1	0.000199681	0	0	5008	,	,		19196	0.001		0	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(2)	2											77	73	74					2																	179407087		2042	4202	6244	179115333	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92473G>A	2.37:g.179407087C>T	ENSP00000465570:p.Glu30825Lys		179115333	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	36	5.809229	0.96975	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68879	0.3049	L	0.42487	1.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.68450	-0.5405	9	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	rs55915651	23401;23526;23593;30825	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	29898;23401;23593;23526;23398	ENSP00000343764:E29898K;ENSP00000434586:E23401K;ENSP00000340554:E23593K;ENSP00000352154:E23526K	ENSP00000340554:E23593K	E	-	1	0	TTN	179115333	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAA		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179407087	C	T	179407087	3	4	94	1	0	0	0	0	1	0	0	0	16735	893	31	1	10639	1	TTN	2	179407087	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	14057407	179407087	63792286	32	4911											
TTN	7273	genome.wustl.edu	37	2	179640675	179640675	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr2:179640675T>A	ENST00000591111.1	-	28	6140	c.5916A>T	c.(5914-5916)gaA>gaT	p.E1972D	TTN_ENST00000342175.6_Missense_Mutation_p.E1926D|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E1972D|TTN_ENST00000359218.5_Missense_Mutation_p.E1926D|TTN_ENST00000460472.2_Missense_Mutation_p.E1926D|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E1972D|TTN_ENST00000342992.6_Missense_Mutation_p.E1972D|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12793					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E1972D(2)|p.E1926D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTTTGGTTTCAGTGGTGT	0.443																																																3	Substitution - Missense(3)	ovary(3)	2											158	162	161					2																	179640675		2203	4300	6503	179348920	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5916A>T	2.37:g.179640675T>A	ENSP00000465570:p.Glu1972Asp		179348920	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	8.370	0.835141	0.16820	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63744	-0.06;0.17;0.16;0.15;0.29	5.1	3.94	0.45596	Ribonuclease H-like (1);	.	.	.	.	T	0.57873	0.2083	N	0.24115	0.695	0.21627	N	0.999612	B;B;B;B;D	0.60575	0.231;0.231;0.231;0.231;0.988	B;B;B;B;P	0.54815	0.142;0.142;0.142;0.142;0.761	T	0.48375	-0.9041	9	0.87932	D	0	.	7.3272	0.26561	0.0:0.0763:0.1448:0.7789	.	1926;1926;1926;1972;1972	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	1972;1926;1926;1926;1926;1972	ENSP00000343764:E1972D;ENSP00000434586:E1926D;ENSP00000340554:E1926D;ENSP00000352154:E1926D;ENSP00000354117:E1972D	ENSP00000340554:E1926D	E	-	3	2	TTN	179348920	0.515000	0.26210	0.997000	0.53966	0.927000	0.56198	0.359000	0.20233	0.793000	0.33875	0.496000	0.49642	GAA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179640675	T	A	179640675	3	1	94	1	0	0	0	0	1	0	0	0	16735	1838	64	5	105412	5	TTN	2	179640675	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	233588	179640675	63558698	33	4912											
THUMPD3	25917	genome.wustl.edu	37	3	9412893	9412893	+	Silent	SNP	T	T	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr3:9412893T>C	ENST00000345094.3	+	4	814	c.480T>C	c.(478-480)aaT>aaC	p.N160N	THUMPD3_ENST00000515662.2_Silent_p.N160N|THUMPD3_ENST00000452837.2_Silent_p.N160N|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	160						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.N160N(1)		NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AGATTAATAATGGACAAGAAG	0.303																																																1	Substitution - coding silent(1)	ovary(1)	3											55	62	59					3																	9412893		2203	4300	6503	9387893	SO:0001819	synonymous_variant	25917			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.480T>C	3.37:g.9412893T>C			9387893	Q9H8V6|Q9NVC1|Q9UFS3	Silent	SNP	ENST00000345094.3	37	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	T	1.471	-0.559926	0.03967	.	.	ENSG00000134077	ENST00000441127	.	.	.	5.94	3.38	0.38709	.	.	.	.	.	T	0.56202	0.1969	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.51593	-0.8686	4	.	.	.	-10.9426	7.2937	0.26380	0.2488:0.0:0.1292:0.6219	.	.	.	.	T	17	.	.	M	+	2	0	THUMPD3	9387893	0.111000	0.22076	0.915000	0.36163	0.248000	0.25809	0.252000	0.18278	1.037000	0.40024	0.459000	0.35465	ATG		0.303	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		C	9412893	T	C	9412893	2	2	94	1	0	0	0	0	0	0	0	1	15884	1461	51	4		4	THUMPD3	3	9412893	Silent	SNP	T	TCGA-13-0885-01A-02W-0421-09		9412893	188609537	34	4913											
HHATL	57467	genome.wustl.edu	37	3	42734256	42734256	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr3:42734256T>C	ENST00000441594.1	-	12	1763	c.1502A>G	c.(1501-1503)gAg>gGg	p.E501G	HHATL_ENST00000310417.5_Missense_Mutation_p.E501G	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	501					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.E501G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CTCCGGCTTCTCTTTGTCCTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	3											101	80	87					3																	42734256		2203	4300	6503	42709260	SO:0001583	missense	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1502A>G	3.37:g.42734256T>C	ENSP00000405423:p.Glu501Gly		42709260	Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	t	10.09	1.255925	0.22965	.	.	ENSG00000010282	ENST00000310417;ENST00000441594	T;T	0.19250	2.16;2.16	3.25	3.25	0.37280	.	0.547968	0.16738	U	0.201560	T	0.10121	0.0248	N	0.14661	0.345	0.23089	N	0.99831	B	0.30068	0.267	B	0.19666	0.026	T	0.18053	-1.0349	10	0.36615	T	0.2	-10.8341	6.746	0.23462	0.0:0.0:0.2717:0.7283	.	501	Q9HCP6	HHATL_HUMAN	G	501	ENSP00000310621:E501G;ENSP00000405423:E501G	ENSP00000310621:E501G	E	-	2	0	HHATL	42709260	0.999000	0.42202	0.999000	0.59377	0.354000	0.29330	2.585000	0.46111	1.374000	0.46228	0.149000	0.16113	GAG		0.552	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		C	42734256	T	C	42734256	3	2	94	1	0	0	0	0	1	0	0	0	7090	1551	54	4	16	4	HHATL	3	42734256	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	33321363	42734256	155288174	35	4914											
RBM6	10180	genome.wustl.edu	37	3	50005087	50005087	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr3:50005087G>T	ENST00000266022.4	+	3	488	c.229G>T	c.(229-231)Gct>Tct	p.A77S	RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	77					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A77S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGCTATGGAGCTAGAGACGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	3											93	99	97					3																	50005087		2203	4300	6503	49980091	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.229G>T	3.37:g.50005087G>T	ENSP00000266022:p.Ala77Ser		49980091	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182112	0.38511	.	.	ENSG00000004534	ENST00000266022;ENST00000416583	T	0.36520	1.25	6.04	6.04	0.98038	.	0.142736	0.48767	D	0.000164	T	0.20495	0.0493	N	0.08118	0	0.80722	D	1	B	0.24258	0.1	B	0.19148	0.024	T	0.11665	-1.0578	9	.	.	.	-15.1638	15.993	0.80220	0.0:0.1337:0.8663:0.0	.	77	P78332	RBM6_HUMAN	S	77	ENSP00000266022:A77S	.	A	+	1	0	RBM6	49980091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.386000	0.66238	2.873000	0.98535	0.561000	0.74099	GCT		0.512	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50005087	G	T	50005087	3	4	94	1	0	0	0	0	1	0	0	0	13147	971	34	3	235	3	RBM6	3	50005087	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	7270831	50005087	148017343	36	4915											
GNAI2	2771	genome.wustl.edu	37	3	50290492	50290492	+	Missense_Mutation	SNP	G	G	A	rs368004918		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr3:50290492G>A	ENST00000313601.6	+	4	724	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	114					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A114T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GTCCTGCACCGCCGAGGAGCA	0.637																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	3						G	THR/ALA,THR/ALA	0,4406		0,0,2203	121	110	113		229,340	5.3	0.8	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNAI2	NM_001166425.1,NM_002070.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	77/319,114/356	50290492	1,13005	2203	4300	6503	50265496	SO:0001583	missense	2771			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.340G>A	3.37:g.50290492G>A	ENSP00000312999:p.Ala114Thr		50265496	B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180559	0.78677	0.0	1.16E-4	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.34	5.34	0.76211	G protein alpha subunit, helical insertion (2);	0.049801	0.85682	D	0.000000	T	0.81758	0.4890	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.74884	-0.3512	10	0.29301	T	0.29	.	17.3557	0.87335	0.0:0.0:1.0:0.0	.	77;114;98;98	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	T	98;114;33;114;62;77;98	ENSP00000406871:A98T;ENSP00000312999:A114T;ENSP00000444360:A33T;ENSP00000395736:A62T;ENSP00000406369:A77T;ENSP00000266027:A98T	ENSP00000266027:A98T	A	+	1	0	GNAI2	50265496	1.000000	0.71417	0.768000	0.31515	0.949000	0.60115	6.693000	0.74582	2.884000	0.98904	0.655000	0.94253	GCC		0.637	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		A	50290492	G	A	50290492	3	1	94	1	0	0	0	0	1	0	0	0	6505	1087	38	1	365	1	GNAI2	3	50290492	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	285405	50290492	147731938	37	4916											
ADAMTS9	56999	genome.wustl.edu	37	3	64606856	64606856	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	G	T	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr3:64606856T>G	ENST00000498707.1	-	19	3089	c.2747A>C	c.(2746-2748)cAa>cCa	p.Q916P	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q888P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	916	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q916P(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATCGCATCTTTGATCAGAAAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											68	70	69					3																	64606856		2203	4300	6503	64581896	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2747A>C	3.37:g.64606856T>G	ENSP00000418735:p.Gln916Pro		64581896	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891459	0.72524	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.60797	0.16;0.16	5.96	5.96	0.96718	.	0.064020	0.64402	D	0.000005	T	0.78438	0.4283	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;1.0;0.994	D;D;D;P	0.87578	0.961;0.956;0.998;0.885	T	0.80788	-0.1226	10	0.56958	D	0.05	.	16.4221	0.83766	0.0:0.0:0.0:1.0	.	888;916;916;916	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	P	888;916	ENSP00000295903:Q888P;ENSP00000418735:Q916P	ENSP00000295903:Q888P	Q	-	2	0	ADAMTS9	64581896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.334000	0.79224	2.283000	0.76528	0.477000	0.44152	CAA		0.453	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			G	64606856	T	G	64606856	3	3	94	1	0	0	0	0	1	0	0	0	273	1812	63	5	3144	5	ADAMTS9	3	64606856	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	14316364	64606856	133415574	38	4917											
DCBLD2	131566	genome.wustl.edu	37	3	98568343	98568343	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr3:98568343C>A	ENST00000326840.6	-	3	895	c.533G>T	c.(532-534)cGc>cTc	p.R178L	DCBLD2_ENST00000326857.9_Missense_Mutation_p.R178L|DCBLD2_ENST00000469648.1_5'UTR	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	178	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.R178L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CAAAAATCCGCGTCCAGAAAC	0.363																																																1	Substitution - Missense(1)	ovary(1)	3											124	118	120					3																	98568343		1868	4098	5966	100051033	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.533G>T	3.37:g.98568343C>A	ENSP00000321573:p.Arg178Leu		100051033	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759488	0.89932	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857;ENST00000449482	T;T;T	0.19394	2.15;2.15;2.15	5.62	5.62	0.85841	CUB (5);	0.055231	0.64402	D	0.000001	T	0.51363	0.1670	M	0.84082	2.675	0.48571	D	0.999671	D;D	0.69078	0.992;0.997	P;D	0.81914	0.871;0.995	T	0.55335	-0.8157	10	0.72032	D	0.01	-13.6293	17.1542	0.86785	0.0:1.0:0.0:0.0	.	178;178	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	L	178;132;178;72	ENSP00000321573:R178L;ENSP00000321646:R178L;ENSP00000396803:R72L	ENSP00000321573:R178L	R	-	2	0	DCBLD2	100051033	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.668000	0.54554	2.648000	0.89879	0.655000	0.94253	CGC		0.363	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		A	98568343	C	A	98568343	3	1	94	1	0	0	0	0	1	0	0	0	4281	768	27	3	1850	3	DCBLD2	3	98568343	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	33961487	98568343	99454087	39	4918											
ZBTB38	253461	genome.wustl.edu	37	3	141163185	141163185	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr3:141163185G>A	ENST00000514251.1	+	4	2234	c.1955G>A	c.(1954-1956)gGt>gAt	p.G652D	ZBTB38_ENST00000441582.2_Missense_Mutation_p.G652D|ZBTB38_ENST00000321464.5_Missense_Mutation_p.G653D					zinc finger and BTB domain containing 38									p.G652D(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AATGCAGAGGGTACCAAATGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											95	93	94					3																	141163185		1918	4135	6053	142645875	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1955G>A	3.37:g.141163185G>A	ENSP00000426387:p.Gly652Asp		142645875		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489474	0.64074	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.08984	3.53;3.03;3.03;3.04	5.02	4.13	0.48395	.	0.364396	0.24260	N	0.040091	T	0.07908	0.0198	L	0.40543	1.245	0.09310	N	1	P;P	0.40875	0.731;0.731	B;B	0.38428	0.273;0.273	T	0.27673	-1.0067	9	.	.	.	-20.3704	11.5518	0.50725	0.089:0.0:0.911:0.0	.	653;652	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	D	652;652;652;653	ENSP00000424254:G652D;ENSP00000426387:G652D;ENSP00000406955:G652D;ENSP00000372635:G653D	.	G	+	2	0	ZBTB38	142645875	0.004000	0.15560	0.786000	0.31890	0.864000	0.49448	0.389000	0.20751	2.603000	0.88011	0.650000	0.86243	GGT		0.438	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			A	141163185	G	A	141163185	3	1	94	1	0	0	0	0	1	0	0	0	17539	1261	44	2	1957	2	ZBTB38	3	141163185	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	42594842	141163185	56859245	40	4919											
TRA2B	6434	genome.wustl.edu	37	3	185643401	185643401	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr3:185643401T>C	ENST00000453386.2	-	3	459	c.184A>G	c.(184-186)Aga>Gga	p.R62G	TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	62	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R62G(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CGGGAGCTTCTTCTGGATCTA	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											91	90	90					3																	185643401		2203	4300	6503	187126095	SO:0001583	missense	6434			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.184A>G	3.37:g.185643401T>C	ENSP00000416959:p.Arg62Gly		187126095	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.433488	0.62955	.	.	ENSG00000136527	ENST00000453386	T	0.21932	1.98	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.69823	2.125	0.80722	D	1	B;B	0.32409	0.37;0.37	B;B	0.30105	0.111;0.111	T	0.02444	-1.1158	10	0.49607	T	0.09	-7.0252	15.8048	0.78491	0.0:0.0:0.0:1.0	.	62;62	B2RDQ3;P62995	.;TRA2B_HUMAN	G	62	ENSP00000416959:R62G	ENSP00000416959:R62G	R	-	1	2	TRA2B	187126095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.514000	0.67043	2.371000	0.80710	0.533000	0.62120	AGA		0.453	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		C	185643401	T	C	185643401	3	2	94	1	0	0	0	0	1	0	0	0	16434	1617	56	4	710	4	TRA2B	3	185643401	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	44480216	185643401	12379029	41	4920											
SCFD2	152579	genome.wustl.edu	37	4	54231639	54231639	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr4:54231639G>A	ENST00000401642.3	-	1	603	c.470C>T	c.(469-471)cCg>cTg	p.P157L	SCFD2_ENST00000388940.4_Missense_Mutation_p.P157L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	157					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.P157L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAGCAATAACGGGACATGGAA	0.572																																																1	Substitution - Missense(1)	ovary(1)	4											87	74	78					4																	54231639		2203	4300	6503	53926396	SO:0001583	missense	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.470C>T	4.37:g.54231639G>A	ENSP00000384182:p.Pro157Leu		53926396	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201388	0.58234	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.75589	-0.86;-0.95	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85894	0.1430	10	0.87932	D	0	.	16.9624	0.86275	0.0:0.0:1.0:0.0	.	157;157	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	L	157	ENSP00000384182:P157L;ENSP00000373592:P157L	ENSP00000373592:P157L	P	-	2	0	SCFD2	53926396	1.000000	0.71417	0.400000	0.26346	0.049000	0.14656	8.673000	0.91186	2.873000	0.98535	0.561000	0.74099	CCG		0.572	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		A	54231639	G	A	54231639	3	1	94	1	0	0	0	0	1	0	0	0	13893	1116	39	1	1620	1	SCFD2	4	54231639	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09		54231639	136922637	42	4921											
LPHN3	23284	genome.wustl.edu	37	4	62800625	62800625	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr4:62800625C>G	ENST00000514591.1	+	13	2305	c.1976C>G	c.(1975-1977)aCg>aGg	p.T659R	LPHN3_ENST00000545650.1_Missense_Mutation_p.T659R|LPHN3_ENST00000504896.1_Missense_Mutation_p.T659R|LPHN3_ENST00000509896.1_Missense_Mutation_p.T727R|LPHN3_ENST00000506700.1_Missense_Mutation_p.T659R|LPHN3_ENST00000506746.1_Missense_Mutation_p.T727R|LPHN3_ENST00000508693.1_Missense_Mutation_p.T727R|LPHN3_ENST00000506720.1_Missense_Mutation_p.T727R|LPHN3_ENST00000507164.1_Missense_Mutation_p.T727R|LPHN3_ENST00000514157.1_Missense_Mutation_p.T659R|LPHN3_ENST00000512091.2_Missense_Mutation_p.T659R|LPHN3_ENST00000511324.1_Missense_Mutation_p.T727R|LPHN3_ENST00000514996.1_Missense_Mutation_p.T659R|LPHN3_ENST00000507625.1_Missense_Mutation_p.T727R|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508946.1_Missense_Mutation_p.T659R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	646					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GACCTGACTACGAGTGATCAG	0.483																																																0			4											88	93	92					4																	62800625		2086	4220	6306	62483220	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1976C>G	4.37:g.62800625C>G	ENSP00000422533:p.Thr659Arg		62483220	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.794|1.794	-0.478856|-0.478856	0.04414|0.04414	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.09350|.	2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99|.	5.43|5.43	4.58|4.58	0.56647|0.56647	Domain of unknown function DUF3497 (1);|.	0.305202|.	0.36444|.	N|.	0.002597|.	T|.	0.41143|.	0.1146|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.10296|.	0.002;0.002;0.003|.	B;B;B|.	0.10450|.	0.005;0.005;0.005|.	T|.	0.25950|.	-1.0117|.	10|.	0.56958|.	D|.	0.05|.	.|.	17.4472|17.4472	0.87581|0.87581	0.0:0.9343:0.0:0.0657|0.0:0.9343:0.0:0.0657	.|.	659;646;659|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	R|X	659;659;727;727;659;646;659;646;659;727;727;727;659;659;659;727;727;659|116	ENSP00000423388:T659R;ENSP00000422533:T659R;ENSP00000423787:T727R;ENSP00000425033:T727R;ENSP00000424120:T659R;ENSP00000439831:T659R;ENSP00000421476:T727R;ENSP00000424030:T727R;ENSP00000421372:T727R;ENSP00000425201:T659R;ENSP00000423434:T659R;ENSP00000421627:T659R;ENSP00000420931:T727R;ENSP00000425884:T727R;ENSP00000424258:T659R|.	ENSP00000280009:T659R|.	T|Y	+|+	2|3	0|2	LPHN3|LPHN3	62483220|62483220	0.399000|0.399000	0.25287|0.25287	0.391000|0.391000	0.26233|0.26233	0.017000|0.017000	0.09413|0.09413	2.452000|2.452000	0.44961|0.44961	0.872000|0.872000	0.35775|0.35775	-0.813000|-0.813000	0.03139|0.03139	ACG|TAC		0.483	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			G	62800625	C	G	62800625	3	3	94	1	0	0	0	0	1	0	0	0	8917	536	19	3	2018	3	LPHN3	4	62800625	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	8568986	62800625	128353651	43	4922											
PARM1	25849	genome.wustl.edu	37	4	75937901	75937901	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr4:75937901C>G	ENST00000307428.7	+	2	522	c.310C>G	c.(310-312)Ccc>Gcc	p.P104A	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	104					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)		p.P104A(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AAACACAGACCCCTCACCTTC	0.537																																																1	Substitution - Missense(1)	ovary(1)	4											147	146	147					4																	75937901		2076	4198	6274	76156925	SO:0001583	missense	25849			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.310C>G	4.37:g.75937901C>G	ENSP00000370224:p.Pro104Ala		76156925	B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642145	0.29157	.	.	ENSG00000169116	ENST00000307428	T	0.80304	-1.36	5.21	-5.03	0.02973	.	1.190680	0.05884	N	0.627014	T	0.64057	0.2564	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44757	-0.9307	10	0.28530	T	0.3	2.0E-4	5.2808	0.15674	0.1127:0.1715:0.5481:0.1677	.	104	Q6UWI2	PARM1_HUMAN	A	104	ENSP00000370224:P104A	ENSP00000370224:P104A	P	+	1	0	PARM1	76156925	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.179000	0.03090	-1.132000	0.02907	-0.344000	0.07964	CCC		0.537	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		G	75937901	C	G	75937901	3	3	94	1	0	0	0	0	1	0	0	0	11452	623	22	3	316	3	PARM1	4	75937901	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	13137276	75937901	115216375	44	4923											
ANK2	287	genome.wustl.edu	37	4	114214596	114214596	+	Splice_Site	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr4:114214596A>T	ENST00000357077.4	+	22	2430	c.2377A>T	c.(2377-2379)Aat>Tat	p.N793Y	ANK2_ENST00000394537.3_Splice_Site_p.N793Y|ANK2_ENST00000506722.1_Splice_Site_p.N772Y|ANK2_ENST00000264366.6_Splice_Site_p.N793Y|ANK2_ENST00000509550.1_Splice_Site_p.N2Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	793					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.N793Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ctctctTCAGAATGGCAACAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	4											189	173	178					4																	114214596		2203	4300	6503	114434045	SO:0001630	splice_region_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2377-1A>T	4.37:g.114214596A>T			114434045	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528020	0.85706	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.80393	2.31;2.31;2.31;2.31;2.31;2.31;2.31;-1.37	5.29	5.29	0.74685	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000036	D	0.90417	0.7000	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.991;0.995	P;D;D;D;D;D	0.85130	0.897;0.989;0.986;0.997;0.945;0.994	D	0.92064	0.5659	10	0.87932	D	0	.	15.2404	0.73465	1.0:0.0:0.0:0.0	.	2;793;793;793;772;772	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	Y	772;739;772;808;793;793;793;772;2	ENSP00000423799:N772Y;ENSP00000421011:N739Y;ENSP00000421067:N772Y;ENSP00000424722:N808Y;ENSP00000378044:N793Y;ENSP00000349588:N793Y;ENSP00000264366:N793Y;ENSP00000426944:N2Y	ENSP00000264366:N793Y	N	+	1	0	ANK2	114434045	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.339000	0.96797	1.988000	0.58038	0.533000	0.62120	AAT		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	Missense_Mutation	T	114214596	A	T	114214596	5	4	94	1	0	0	0	0	0	0	1	0	621	260	9	5	2488	5	ANK2	4	114214596	Splice_Site	SNP	A	TCGA-13-0885-01A-02W-0421-09	38276695	114214596	76939680	45	4924											
UCP1	7350	genome.wustl.edu	37	4	141481109	141481109	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr4:141481109A>G	ENST00000262999.3	-	6	940	c.865T>C	c.(865-867)Ttt>Ctt	p.F289L		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	289	Purine nucleotide binding. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)	p.F289L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AGTTGTTCAAAGCACACAAAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	4											187	150	162					4																	141481109		2203	4300	6503	141700559	SO:0001583	missense	7350			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"Solute carriers"	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.865T>C	4.37:g.141481109A>G	ENSP00000262999:p.Phe289Leu		141700559	Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474404	0.63737	.	.	ENSG00000109424	ENST00000262999	T	0.79352	-1.26	5.08	5.08	0.68730	Mitochondrial carrier domain (2);	0.188569	0.47455	D	0.000240	T	0.65291	0.2677	L	0.31752	0.955	0.46131	D	0.998882	P;P	0.47484	0.896;0.896	B;B	0.40602	0.334;0.334	T	0.63607	-0.6599	10	0.18710	T	0.47	.	13.1008	0.59218	1.0:0.0:0.0:0.0	.	288;289	Q4KMT7;P25874	.;UCP1_HUMAN	L	289	ENSP00000262999:F289L	ENSP00000262999:F289L	F	-	1	0	UCP1	141700559	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.838000	0.92115	2.041000	0.60428	0.482000	0.46254	TTT		0.393	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			G	141481109	A	G	141481109	3	3	94	1	0	0	0	0	1	0	0	0	16930	72	3	4	60	4	UCP1	4	141481109	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	27266513	141481109	49673167	46	4925											
PRMT10	90826	genome.wustl.edu	37	4	148594893	148594893	+	Silent	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr4:148594893A>T	ENST00000322396.6	-	3	713	c.471T>A	c.(469-471)ctT>ctA	p.L157L	PRMT10_ENST00000541232.1_Silent_p.L44L	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		157	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.L157L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TGGTGTCATTAAGCATGATAA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	4											102	101	102					4																	148594893		2203	4300	6503	148814343	SO:0001819	synonymous_variant	90826																														ENST00000322396.6:c.471T>A	4.37:g.148594893A>T			148814343	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	ENST00000322396.6	37	CCDS3771.1																																																																																				0.403	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			T	148594893	A	T	148594893	2	4	94	1	0	0	0	0	0	0	0	1	12539	349	13	5		5	PRMT10	4	148594893	Silent	SNP	A	TCGA-13-0885-01A-02W-0421-09	7113784	148594893	42559383	47	4926											
DNAH5	1767	genome.wustl.edu	37	5	13769720	13769720	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr5:13769720T>G	ENST00000265104.4	-	57	9714	c.9610A>C	c.(9610-9612)Aat>Cat	p.N3204H	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3204	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N3204H(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATCCAGTATTCATTCTGGGA	0.398									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											132	126	128					5																	13769720		2203	4300	6503	13822720	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9610A>C	5.37:g.13769720T>G	ENSP00000265104:p.Asn3204His		13822720	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928126	0.52759	.	.	ENSG00000039139	ENST00000265104	T	0.74632	-0.86	5.77	5.77	0.91146	Dynein heavy chain, coiled coil stalk (1);	0.089765	0.85682	D	0.000000	T	0.77751	0.4177	M	0.74647	2.275	0.54753	D	0.999987	B	0.17465	0.022	B	0.30105	0.111	T	0.75266	-0.3378	10	0.56958	D	0.05	.	16.3818	0.83467	0.0:0.0:0.0:1.0	.	3204	Q8TE73	DYH5_HUMAN	H	3204	ENSP00000265104:N3204H	ENSP00000265104:N3204H	N	-	1	0	DNAH5	13822720	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.875000	0.63072	2.330000	0.79161	0.528000	0.53228	AAT		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		G	13769720	T	G	13769720	3	3	94	1	0	0	0	0	1	0	0	0	4604	1783	62	5	4356	5	DNAH5	5	13769720	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09		13769720	167145540	48	4927											
CDH10	1008	genome.wustl.edu	37	5	24593441	24593441	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr5:24593441T>A	ENST00000264463.4	-	2	666	c.159A>T	c.(157-159)aaA>aaT	p.K53N	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	53					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K53N(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCAACCACGTTTTTGACGAT	0.403										HNSCC(23;0.051)																																						1	Substitution - Missense(1)	ovary(1)	5											137	135	135					5																	24593441		2203	4300	6503	24629198	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.159A>T	5.37:g.24593441T>A	ENSP00000264463:p.Lys53Asn		24629198	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451385	0.63290	.	.	ENSG00000040731	ENST00000264463	T	0.00554	6.64	4.37	-2.68	0.06041	.	0.000000	0.85682	D	0.000000	T	0.01156	0.0038	M	0.78456	2.415	0.31794	N	0.629257	D	0.60160	0.987	P	0.54460	0.753	T	0.08310	-1.0728	10	0.87932	D	0	.	11.2619	0.49089	0.0:0.5477:0.0:0.4523	.	53	Q9Y6N8	CAD10_HUMAN	N	53	ENSP00000264463:K53N	ENSP00000264463:K53N	K	-	3	2	CDH10	24629198	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	0.741000	0.26202	-0.494000	0.06669	-0.668000	0.03835	AAA		0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		A	24593441	T	A	24593441	3	1	94	1	0	0	0	0	1	0	0	0	3096	1722	60	5	2251	5	CDH10	5	24593441	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	10823721	24593441	156321819	49	4928											
AGXT2	64902	genome.wustl.edu	37	5	35047956	35047956	+	Silent	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr5:35047956C>G	ENST00000231420.6	-	1	242	c.42G>C	c.(40-42)ctG>ctC	p.L14L		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	14					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.L14L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	CGGAAGTGACCAGGCACAAGG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	5											72	64	67					5																	35047956		2203	4300	6503	35083713	SO:0001819	synonymous_variant	64902			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.42G>C	5.37:g.35047956C>G			35083713	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	CCDS3908.1																																																																																				0.547	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		G	35047956	C	G	35047956	2	3	94	1	0	0	0	0	0	0	0	1	405	581	21	3		3	AGXT2	5	35047956	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	10454515	35047956	145867304	50	4929											
IL7R	3575	genome.wustl.edu	37	5	35876436	35876436	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr5:35876436A>G	ENST00000303115.3	+	8	1357	c.1228A>G	c.(1228-1230)Act>Gct	p.T410A	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	410					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.T410A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TAGCCTTGGGACTACAAACAG	0.542			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	1	Substitution - Missense(1)	ovary(1)	5											102	88	93					5																	35876436		2203	4300	6503	35912193	SO:0001583	missense	3575			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1228A>G	5.37:g.35876436A>G	ENSP00000306157:p.Thr410Ala		35912193	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.515852	0.27123	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.32753	1.95;1.44	5.6	1.72	0.24424	.	0.877555	0.10025	N	0.725521	T	0.25494	0.0620	L	0.57536	1.79	0.09310	N	0.999998	B	0.22480	0.07	B	0.19148	0.024	T	0.25328	-1.0135	10	0.23302	T	0.38	-27.5526	4.8102	0.13340	0.485:0.1543:0.0:0.3607	.	410	P16871	IL7RA_HUMAN	A	410;176	ENSP00000306157:T410A;ENSP00000420923:T176A	ENSP00000306157:T410A	T	+	1	0	IL7R	35912193	0.009000	0.17119	0.316000	0.25252	0.040000	0.13550	0.944000	0.29043	0.914000	0.36822	0.533000	0.62120	ACT		0.542	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			G	35876436	A	G	35876436	3	3	94	1	0	0	0	0	1	0	0	0	7705	275	10	4	1258	4	IL7R	5	35876436	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	828480	35876436	145038824	51	4930											
SFRS12IP1	285672	genome.wustl.edu	37	5	64036949	64036949	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr5:64036949G>C	ENST00000513458.4	-	3	307	c.140C>G	c.(139-141)aCa>aGa	p.T47R	SREK1IP1_ENST00000506252.1_5'Flank	NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	47					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T47R(1)		breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TTCACTACTTGTACTGCTGAC	0.353																																																1	Substitution - Missense(1)	ovary(1)	5											88	82	84					5																	64036949		2203	4299	6502	64072705	SO:0001583	missense	285672			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.140C>G	5.37:g.64036949G>C	ENSP00000427401:p.Thr47Arg		64072705	Q32NC8	Missense_Mutation	SNP	ENST00000513458.4	37	CCDS34171.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036470	0.93630	.	.	ENSG00000153006	ENST00000513458	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84126	0.0409	9	0.59425	D	0.04	-2.2425	19.7068	0.96076	0.0:0.0:1.0:0.0	.	47	Q8N9Q2	SR1IP_HUMAN	R	47	.	ENSP00000427401:T47R	T	-	2	0	SREK1IP1	64072705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.282000	0.95840	2.824000	0.97209	0.655000	0.94253	ACA		0.353	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		C	64036949	G	C	64036949	3	2	94	1	0	0	0	0	1	0	0	0	14171	1377	48	3	339	3	SFRS12IP1	5	64036949	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	28160513	64036949	116878311	52	4931											
IQGAP2	10788	genome.wustl.edu	37	5	75932981	75932981	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr5:75932981C>A	ENST00000274364.6	+	16	2200	c.1903C>A	c.(1903-1905)Ctc>Atc	p.L635I	IQGAP2_ENST00000502745.1_Missense_Mutation_p.L188I|IQGAP2_ENST00000379730.3_Missense_Mutation_p.L194I|IQGAP2_ENST00000396234.3_Missense_Mutation_p.L188I	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	635					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.L635I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAATCATGGCTCACAGGAAA	0.363																																																1	Substitution - Missense(1)	ovary(1)	5											104	102	103					5																	75932981		2203	4300	6503	75968737	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1903C>A	5.37:g.75932981C>A	ENSP00000274364:p.Leu635Ile		75968737	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093154	0.56075	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.72	4.84	0.62591	.	0.066410	0.64402	N	0.000013	T	0.65831	0.2729	M	0.80982	2.52	0.45806	D	0.998688	D;D;D;D	0.64830	0.994;0.989;0.994;0.989	D;P;D;P	0.63877	0.919;0.831;0.919;0.831	T	0.66806	-0.5830	10	0.36615	T	0.2	-9.3943	12.0404	0.53450	0.1727:0.8273:0.0:0.0	.	194;585;188;635	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	I	635;194;608;585;188;188;188;188	ENSP00000274364:L635I;ENSP00000442313:L194I;ENSP00000423672:L608I;ENSP00000421097:L585I;ENSP00000422661:L188I;ENSP00000379535:L188I;ENSP00000426027:L188I	ENSP00000274364:L635I	L	+	1	0	IQGAP2	75968737	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	0.785000	0.26830	1.401000	0.46761	0.585000	0.79938	CTC		0.363	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		A	75932981	C	A	75932981	3	1	94	1	0	0	0	0	1	0	0	0	7815	797	28	3	1965	3	IQGAP2	5	75932981	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	11896032	75932981	104982279	53	4932											
FBN2	2201	genome.wustl.edu	37	5	127670890	127670890	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr5:127670890C>T	ENST00000508053.1	-	36	4919	c.3945G>A	c.(3943-3945)atG>atA	p.M1315I	FBN2_ENST00000262464.4_Missense_Mutation_p.M1315I|FBN2_ENST00000508989.1_Missense_Mutation_p.M1282I|FBN2_ENST00000507835.1_Missense_Mutation_p.M165I			P35556	FBN2_HUMAN	fibrillin 2	1315	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.M1315I(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCATGGAAGCCATGAAGCCAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	5											123	116	118					5																	127670890		2203	4300	6503	127698789	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3945G>A	5.37:g.127670890C>T	ENSP00000424571:p.Met1315Ile		127698789	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123263	0.56613	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	5.09	5.09	0.68999	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	N	0.15975	0.35	0.46725	D	0.999178	B;B	0.13145	0.007;0.001	B;B	0.08055	0.003;0.001	T	0.71337	-0.4623	10	0.34782	T	0.22	.	14.3227	0.66496	0.0:0.9266:0.0:0.0734	.	1282;1315	D6RJI3;P35556	.;FBN2_HUMAN	I	1315;1315;165;1282	ENSP00000262464:M1315I;ENSP00000424571:M1315I;ENSP00000426839:M165I;ENSP00000425596:M1282I	ENSP00000262464:M1315I	M	-	3	0	FBN2	127698789	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.807000	0.55591	2.804000	0.96469	0.655000	0.94253	ATG		0.448	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127670890	C	T	127670890	3	4	94	1	0	0	0	0	1	0	0	0	5703	594	21	2	4937	2	FBN2	5	127670890	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	51737909	127670890	53244370	54	4933											
TIGD6	81789	genome.wustl.edu	37	5	149374598	149374598	+	Silent	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr5:149374598G>A	ENST00000296736.3	-	2	2088	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	TIGD6_ENST00000515406.2_Silent_p.D438D	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	438						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D438D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGCCACCATGTCCTGGATGA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	5											160	151	154					5																	149374598		2203	4300	6503	149354791	SO:0001819	synonymous_variant	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.1314C>T	5.37:g.149374598G>A			149354791	B3KTZ8|Q96MQ4|Q9H0X7	Silent	SNP	ENST00000296736.3	37	CCDS4301.1																																																																																				0.448	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		A	149374598	G	A	149374598	2	1	94	1	0	0	0	0	0	0	0	1	15900	1368	48	2		2	TIGD6	5	149374598	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	21703708	149374598	31540662	55	4934											
MAML1	9794	genome.wustl.edu	37	5	179192580	179192580	+	Missense_Mutation	SNP	G	G	A	rs113636707		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr5:179192580G>A	ENST00000292599.3	+	2	832	c.569G>A	c.(568-570)cGt>cAt	p.R190H	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.R190H(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACAAAAAGCGTCTGGCTGAC	0.562													G|||	1	0.000199681	0	0	5008	,	,		17356	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5						G	HIS/ARG	7,4399	11.4+/-27.6	0,7,2196	37	40	39		569	4.9	1	5	dbSNP_132	39	27,8573	19.2+/-60.6	0,27,4273	yes	missense	MAML1	NM_014757.4	29	0,34,6469	AA,AG,GG		0.314,0.1589,0.2614	possibly-damaging	190/1017	179192580	34,12972	2203	4300	6503	179125186	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.569G>A	5.37:g.179192580G>A	ENSP00000292599:p.Arg190His		179125186		Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.04	2.117249	0.37339	0.001589	0.00314	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.44881	0.91	4.9	4.9	0.64082	.	0.143880	0.49305	D	0.000144	T	0.26774	0.0655	N	0.19112	0.55	0.27413	N	0.95453	P;B	0.34909	0.475;0.005	B;B	0.21151	0.033;0.001	T	0.08953	-1.0697	10	0.27082	T	0.32	-0.4315	18.0605	0.89375	0.0:0.0:1.0:0.0	.	227;190	Q59GH4;Q92585	.;MAML1_HUMAN	H	190;227	ENSP00000292599:R190H	ENSP00000292599:R190H	R	+	2	0	MAML1	179125186	1.000000	0.71417	0.987000	0.45799	0.515000	0.34225	2.634000	0.46528	2.251000	0.74343	0.455000	0.32223	CGT		0.562	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		A	179192580	G	A	179192580	3	1	94	1	0	0	0	0	1	0	0	0	9205	1145	40	1	575	1	MAML1	5	179192580	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	29817982	179192580	1722680	56	4935											
CAP2	10486	genome.wustl.edu	37	6	17543168	17543168	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr6:17543168G>T	ENST00000229922.2	+	10	1635	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V	CAP2_ENST00000465994.1_Missense_Mutation_p.G304V|CAP2_ENST00000493172.1_Missense_Mutation_p.G108V|CAP2_ENST00000489374.1_Missense_Mutation_p.G256V|CAP2_ENST00000378990.2_Missense_Mutation_p.G342V	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	368	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.G368V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CAGATAAAAGGGAAAGTAAAC	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											117	112	114					6																	17543168		2203	4300	6503	17651147	SO:0001583	missense	10486			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1103G>T	6.37:g.17543168G>T	ENSP00000229922:p.Gly368Val		17651147	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	g	27.9	4.871480	0.91587	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T	0.16457	2.49;2.38;2.39;2.34	5.99	5.99	0.97316	CARP motif (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	H	0.94698	3.57	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.997	T	0.64521	-0.6388	10	0.87932	D	0	-25.2775	20.4488	0.99124	0.0:0.0:1.0:0.0	.	108;256;304;342;368	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	V	368;285;256;342;108;304	ENSP00000229922:G368V;ENSP00000417705:G256V;ENSP00000368275:G342V;ENSP00000418604:G304V	ENSP00000229922:G368V	G	+	2	0	CAP2	17651147	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.023000	0.88764	2.843000	0.97960	0.655000	0.94253	GGG		0.348	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			T	17543168	G	T	17543168	3	4	94	1	0	0	0	0	1	0	0	0	2620	1232	43	3	1137	3	CAP2	6	17543168	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09		17543168	153571899	57	4936											
GRM4	2914	genome.wustl.edu	37	6	33996116	33996116	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr6:33996116C>A	ENST00000538487.2	-	10	2913	c.2470G>T	c.(2470-2472)Gtc>Ttc	p.V824F	GRM4_ENST00000535756.1_Missense_Mutation_p.V691F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.V824F|GRM4_ENST00000544773.2_Missense_Mutation_p.V655F|GRM4_ENST00000609222.1_Missense_Mutation_p.V691F|GRM4_ENST00000455714.2_Missense_Mutation_p.V684F|GRM4_ENST00000374177.3_Missense_Mutation_p.V708F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	824					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.V708F(1)|p.V824F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCACCGAGACCGTCAGCGTC	0.637																																																2	Substitution - Missense(2)	ovary(2)	6											122	113	116					6																	33996116		2203	4300	6503	34104094	SO:0001583	missense	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2470G>T	6.37:g.33996116C>A	ENSP00000440556:p.Val824Phe		34104094	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408395	0.25378	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	4.44	4.44	0.53790	GPCR, family 3, C-terminal (2);	0.255095	0.31041	N	0.008377	T	0.68366	0.2993	N	0.17564	0.495	0.40939	D	0.98445	B;B;P;P;B	0.44429	0.002;0.005;0.835;0.78;0.022	B;B;P;B;B	0.50825	0.019;0.017;0.651;0.446;0.034	T	0.72151	-0.4377	10	0.02654	T	1	.	8.531	0.33335	0.0:0.8563:0.0:0.1437	.	777;655;684;824;691	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	F	824;708;516;691;655;824;684	ENSP00000363296:V824F;ENSP00000363292:V708F;ENSP00000445533:V516F;ENSP00000437925:V691F;ENSP00000437730:V655F;ENSP00000440556:V824F;ENSP00000398456:V684F	ENSP00000363292:V708F	V	-	1	0	GRM4	34104094	0.980000	0.34600	0.998000	0.56505	0.052000	0.14988	1.694000	0.37752	2.298000	0.77334	0.549000	0.68633	GTC		0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			A	33996116	C	A	33996116	3	1	94	1	0	0	0	0	1	0	0	0	6799	507	18	3	276	3	GRM4	6	33996116	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	16452948	33996116	137118951	58	4937											
PEX6	5190	genome.wustl.edu	37	6	42934267	42934267	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr6:42934267G>A	ENST00000304611.8	-	10	2159	c.2090C>T	c.(2089-2091)cCc>cTc	p.P697L	PEX6_ENST00000244546.4_Missense_Mutation_p.P697L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	697					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.P697L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCCACCTTGGGGGCTCCAAC	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											67	70	69					6																	42934267		2203	4300	6503	43042245	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2090C>T	6.37:g.42934267G>A	ENSP00000303511:p.Pro697Leu		43042245	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774156	0.90108	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	D;D	0.97553	-3.56;-4.43	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	L	0.46614	1.455	0.80722	D	1	P	0.52316	0.952	P	0.58577	0.841	D	0.97462	1.0035	10	0.62326	D	0.03	-23.2469	18.9872	0.92777	0.0:0.0:1.0:0.0	.	697	Q13608	PEX6_HUMAN	L	697	ENSP00000303511:P697L;ENSP00000244546:P697L	ENSP00000244546:P697L	P	-	2	0	PEX6	43042245	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	9.198000	0.94994	2.564000	0.86499	0.563000	0.77884	CCC		0.617	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42934267	G	A	42934267	3	1	94	1	0	0	0	0	1	0	0	0	11750	1232	43	2	884	2	PEX6	6	42934267	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	8938151	42934267	128180800	59	4938											
HCRTR2	3062	genome.wustl.edu	37	6	55120146	55120146	+	Silent	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr6:55120146C>A	ENST00000370862.3	+	3	951	c.615C>A	c.(613-615)acC>acA	p.T205T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	205					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.T205T(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATAAAACCACCCTCTTTACGG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	6											134	112	119					6																	55120146		2203	4300	6503	55228105	SO:0001819	synonymous_variant	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.615C>A	6.37:g.55120146C>A			55228105	Q5VTM0	Silent	SNP	ENST00000370862.3	37	CCDS4956.1																																																																																				0.453	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			A	55120146	C	A	55120146	2	1	94	1	0	0	0	0	0	0	0	1	7002	610	22	3		3	HCRTR2	6	55120146	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	12185879	55120146	115994921	60	4939											
DST	667	genome.wustl.edu	37	6	56357225	56357225	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr6:56357225C>T	ENST00000361203.3	-	80	19604	c.19597G>A	c.(19597-19599)Gcc>Acc	p.A6533T	DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'Flank|DST_ENST00000446842.2_Missense_Mutation_p.A6318T|DST_ENST00000421834.2_Missense_Mutation_p.A4556T|DST_ENST00000244364.6_Missense_Mutation_p.A4230T|DST_ENST00000370788.2_Missense_Mutation_p.A4447T|DST_ENST00000370754.5_Missense_Mutation_p.A6822T|DST_ENST00000370769.4_Missense_Mutation_p.A6644T			Q03001	DYST_HUMAN	dystonin	6533					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A6644T(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTTCATTGGCAAAAACCTTT	0.308																																																1	Substitution - Missense(1)	ovary(1)	6											72	69	70					6																	56357225		1801	4065	5866	56465184	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19597G>A	6.37:g.56357225C>T	ENSP00000354508:p.Ala6533Thr		56465184	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.127286	0.77549	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.11	5.11	0.69529	.	0.000000	0.48286	D	0.000195	T	0.51329	0.1668	L	0.43152	1.355	0.32935	D	0.517689	P;D;D;P;P	0.69078	0.931;0.997;0.993;0.77;0.865	P;D;D;P;P	0.73380	0.745;0.98;0.926;0.478;0.494	T	0.33445	-0.9868	9	0.20519	T	0.43	.	18.9056	0.92460	0.0:1.0:0.0:0.0	.	4556;6644;6822;6642;4230	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	4230;6822;6644;4556;6318;4447;6533	ENSP00000244364:A4230T;ENSP00000359790:A6822T;ENSP00000359805:A6644T;ENSP00000400883:A4556T;ENSP00000393645:A6318T;ENSP00000359824:A4447T;ENSP00000354508:A6533T	ENSP00000244364:A4230T	A	-	1	0	DST	56465184	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.592000	0.82676	2.540000	0.85666	0.591000	0.81541	GCC		0.308	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56357225	C	T	56357225	3	4	94	1	0	0	0	0	1	0	0	0	4783	710	25	2	2903	2	DST	6	56357225	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	1237079	56357225	114757842	61	4940											
KCNQ5	56479	genome.wustl.edu	37	6	73904330	73904330	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr6:73904330A>T	ENST00000370398.1	+	14	2101	c.1992A>T	c.(1990-1992)aaA>aaT	p.K664N	KCNQ5_ENST00000355635.3_Missense_Mutation_p.K665N|KCNQ5_ENST00000342056.2_Missense_Mutation_p.K683N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.K554N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.K664N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.K674N|KCNQ5_ENST00000403813.2_Missense_Mutation_p.K655N	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	664					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.K664N(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGGATAGCAAAGATCTTTCGG	0.488																																					GBM(142;1375 1859 14391 23261 44706)											1	Substitution - Missense(1)	ovary(1)	6											95	95	95					6																	73904330		2203	4300	6503	73961051	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1992A>T	6.37:g.73904330A>T	ENSP00000359425:p.Lys664Asn		73961051	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592029	0.46214	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99499	-5.79;-5.81;-5.82;-5.8;-5.81;-5.84;-6.02	5.41	1.72	0.24424	.	0.107994	0.64402	D	0.000008	D	0.98579	0.9525	L	0.55481	1.735	0.28143	N	0.929709	D;P;P;D;D	0.63880	0.993;0.93;0.645;0.991;0.984	D;P;P;P;P	0.64144	0.922;0.738;0.468;0.823;0.67	D	0.97226	0.9881	10	0.62326	D	0.03	-7.5187	9.5862	0.39517	0.7256:0.0:0.2744:0.0	.	554;674;683;655;664	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	N	683;683;664;664;674;665;655;554	ENSP00000345055:K683N;ENSP00000347326:K664N;ENSP00000359425:K664N;ENSP00000385501:K674N;ENSP00000347853:K665N;ENSP00000384453:K655N;ENSP00000409861:K554N	ENSP00000345055:K683N	K	+	3	2	KCNQ5	73961051	1.000000	0.71417	0.999000	0.59377	0.779000	0.44077	1.753000	0.38359	0.057000	0.16193	0.459000	0.35465	AAA		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		T	73904330	A	T	73904330	3	4	94	1	0	0	0	0	1	0	0	0	8086	69	3	5	2107	5	KCNQ5	6	73904330	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	17547105	73904330	97210737	62	4941											
CD109	135228	genome.wustl.edu	37	6	74517952	74517952	+	Silent	SNP	T	T	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr6:74517952T>G	ENST00000287097.5	+	26	3448	c.3336T>G	c.(3334-3336)acT>acG	p.T1112T	CD109_ENST00000422508.2_Silent_p.T1035T|CD109_ENST00000437994.2_Silent_p.T1112T			Q6YHK3	CD109_HUMAN	CD109 molecule	1112					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.T1112T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATGCTGACTTGGAGAGCAG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	6											93	95	94					6																	74517952		2203	4300	6503	74574673	SO:0001819	synonymous_variant	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3336T>G	6.37:g.74517952T>G			74574673	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																				0.383	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		G	74517952	T	G	74517952	2	3	94	1	0	0	0	0	0	0	0	1	2963	1596	56	5		5	CD109	6	74517952	Silent	SNP	T	TCGA-13-0885-01A-02W-0421-09	613622	74517952	96597115	63	4942											
CCDC129	223075	genome.wustl.edu	37	7	31617984	31617984	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:31617984C>G	ENST00000407970.3	+	8	1144	c.1106C>G	c.(1105-1107)aCt>aGt	p.T369S	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.T395S|CCDC129_ENST00000409210.1_Missense_Mutation_p.T277S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	369										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTATTTCAGACTAACAAGCTC	0.517																																																0			7											57	55	56					7																	31617984		1973	4155	6128	31584509	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1106C>G	7.37:g.31617984C>G	ENSP00000384416:p.Thr369Ser		31584509	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390821	0.25118	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.20332	2.33;2.32;2.08	5.61	1.59	0.23543	.	.	.	.	.	T	0.14356	0.0347	L	0.48362	1.52	0.09310	N	1	B;B;B	0.32753	0.383;0.176;0.176	B;B;B	0.26094	0.066;0.066;0.066	T	0.22103	-1.0226	8	.	.	.	-0.4085	3.932	0.09290	0.1383:0.6047:0.1339:0.1231	.	395;379;369	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	S	369;395;379;277	ENSP00000384416:T369S;ENSP00000395835:T395S;ENSP00000387214:T277S	.	T	+	2	0	CCDC129	31584509	0.001000	0.12720	0.001000	0.08648	0.069000	0.16628	0.297000	0.19101	0.071000	0.16664	0.655000	0.94253	ACT		0.517	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		G	31617984	C	G	31617984	3	3	94	1	0	0	0	0	1	0	0	0	2764	565	20	3	1132	3	CCDC129	7	31617984	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09		31617984	127520679	64	4943											
POLD2	5425	genome.wustl.edu	37	7	44155738	44155738	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:44155738T>C	ENST00000406581.2	-	9	1644	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	POLD2_ENST00000452185.1_Missense_Mutation_p.Y332C|POLD2_ENST00000223361.3_Missense_Mutation_p.Y332C	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	332					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.Y332C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GGTGGCCTGGTAGGGGTTGGT	0.612																																																1	Substitution - Missense(1)	ovary(1)	7											58	61	60					7																	44155738		2203	4300	6503	44122263	SO:0001583	missense	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.995A>G	7.37:g.44155738T>C	ENSP00000386105:p.Tyr332Cys		44122263	A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259244	0.80246	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436400;ENST00000436844	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.91	5.91	0.95273	DNA polymerase alpha/epsilon, subunit B (1);	0.129140	0.53938	D	0.000048	T	0.57475	0.2056	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.974	T	0.59021	-0.7532	10	0.48119	T	0.1	-17.5018	16.0171	0.80450	0.0:0.0:0.0:1.0	.	332;332	P49005;F8W8R3	DPOD2_HUMAN;.	C	332;332;332;51;250	ENSP00000386105:Y332C;ENSP00000223361:Y332C;ENSP00000395231:Y332C;ENSP00000399447:Y51C;ENSP00000416203:Y250C	ENSP00000223361:Y332C	Y	-	2	0	POLD2	44122263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.609000	0.54117	2.269000	0.75478	0.533000	0.62120	TAC		0.612	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		C	44155738	T	C	44155738	3	2	94	1	0	0	0	0	1	0	0	0	12191	1638	57	4	430	4	POLD2	7	44155738	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	12537754	44155738	114982925	65	4944											
CYP3A7	1551	genome.wustl.edu	37	7	99314835	99314835	+	Silent	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:99314835C>T	ENST00000336374.2	-	6	488	c.486G>A	c.(484-486)cgG>cgA	p.R162R		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	162					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.R162R(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCTCTGCTTCCCGCCTCAGAT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	7											158	141	147					7																	99314835		2203	4300	6503	99152771	SO:0001819	synonymous_variant	1551			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.486G>A	7.37:g.99314835C>T			99152771	A4D288|Q9H241	Silent	SNP	ENST00000336374.2	37	CCDS5673.1																																																																																				0.502	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			T	99314835	C	T	99314835	2	4	94	1	0	0	0	0	0	0	0	1	4181	610	22	2		2	CYP3A7	7	99314835	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	55159097	99314835	59823828	66	4945											
ZAN	7455	genome.wustl.edu	37	7	100352980	100352980	+	RNA	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:100352980C>A	ENST00000348028.3	+	0	3421				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H1086N(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TAGTGACAACCACTGCATCCA	0.572																																																1	Substitution - Missense(1)	ovary(1)	7											117	117	117					7																	100352980		1923	4138	6061	100190916			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352980C>A			100190916	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	c	14.05	2.419509	0.42918	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	D;D;D	0.90324	-2.65;-2.65;-2.65	5.13	-10.3	0.00346	EGF-like region, conserved site (1);Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	2.345740	0.01778	N	0.031601	T	0.79393	0.4438	N	0.10707	0.03	0.19300	N	0.999973	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.68059	-0.5509	10	0.38643	T	0.18	.	13.1582	0.59531	0.6922:0.1401:0.1677:0.0	.	1086;1086	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	1086	ENSP00000445943:H1086N;ENSP00000445091:H1086N;ENSP00000444427:H1086N	ENSP00000423579:H1086N	H	+	1	0	ZAN	100190916	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.242000	0.08928	-2.373000	0.00600	-0.170000	0.13304	CAC		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100352980	C	A	100352980	1	1	94	0	1	0	0	0	0	0	0	0	17513	594	21	3		3	ZAN	7	100352980	RNA	SNP	C	TCGA-13-0885-01A-02W-0421-09	1038145	100352980	58785683	67	4946											
MUC17	140453	genome.wustl.edu	37	7	100681591	100681591	+	Silent	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:100681591C>A	ENST00000306151.4	+	3	6958	c.6894C>A	c.(6892-6894)acC>acA	p.T2298T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2298	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T2298T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGTTAGCACCCTTTCAACAA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	7											225	227	226					7																	100681591		2203	4300	6503	100468311	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6894C>A	7.37:g.100681591C>A			100468311	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100681591	C	A	100681591	2	1	94	1	0	0	0	0	0	0	0	1	9974	610	22	3		3	MUC17	7	100681591	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	328611	100681591	58457072	68	4947											
TMEM209	84928	genome.wustl.edu	37	7	129815423	129815423	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:129815423A>T	ENST00000397622.2	-	11	1395	c.1273T>A	c.(1273-1275)Tca>Aca	p.S425T	TMEM209_ENST00000462753.1_Missense_Mutation_p.S424T|TMEM209_ENST00000473456.1_Missense_Mutation_p.S383T|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.S382T	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	425						integral component of membrane (GO:0016021)		p.S424T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CATCGAAATGAGCTCATACAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	7											56	56	56					7																	129815423		2094	4235	6329	129602659	SO:0001583	missense	84928				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1273T>A	7.37:g.129815423A>T	ENSP00000380747:p.Ser425Thr		129602659	A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668382	0.67814	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.53249	1.67	0.58432	D	0.999999	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.04946	-1.0916	10	0.30078	T	0.28	-15.0312	14.7988	0.69898	1.0:0.0:0.0:0.0	.	383;425	Q96SK2-3;Q96SK2	.;TM209_HUMAN	T	425;424;383;382	ENSP00000380747:S425T;ENSP00000419697:S424T;ENSP00000417258:S383T;ENSP00000338388:S382T	ENSP00000338388:S382T	S	-	1	0	TMEM209	129602659	1.000000	0.71417	0.847000	0.33407	0.956000	0.61745	6.666000	0.74446	2.098000	0.63641	0.482000	0.46254	TCA		0.403	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		T	129815423	A	T	129815423	3	4	94	1	0	0	0	0	1	0	0	0	16134	304	11	5	432	5	TMEM209	7	129815423	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	29133832	129815423	29323240	69	4948											
C7orf49	78996	genome.wustl.edu	37	7	134851584	134851584	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:134851584C>A	ENST00000393114.3	-	4	434	c.253G>T	c.(253-255)Gcg>Tcg	p.A85S	C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000424142.1_Missense_Mutation_p.A30S|C7orf49_ENST00000430372.1_Missense_Mutation_p.A84S|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000483029.2_Missense_Mutation_p.A30S			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	85						cytoplasm (GO:0005737)		p.A57S(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TCAGCCCCCGCCAGGGCCGGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	7											54	60	58					7																	134851584		2203	4300	6503	134502124	SO:0001583	missense	78996			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"modulator of retrovirus infection"					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.253G>T	7.37:g.134851584C>A	ENSP00000376823:p.Ala85Ser		134502124	Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	CCDS5838.2	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350600	0.24512	.	.	ENSG00000122783	ENST00000435834;ENST00000424142;ENST00000393114;ENST00000430372	.	.	.	5.37	3.41	0.39046	.	1.106060	0.06912	N	0.807803	T	0.36663	0.0975	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29301	0.241;0.081;0.081	B;B;B	0.34931	0.192;0.094;0.094	T	0.30679	-0.9970	9	0.17369	T	0.5	-4.5827	13.2047	0.59788	0.0:0.6765:0.3235:0.0	.	84;85;56	C9JKC7;Q9BWK5;Q9BWK5-2	.;MRI_HUMAN;.	S	30;30;85;84	.	ENSP00000376823:A85S	A	-	1	0	C7orf49	134502124	0.023000	0.18921	0.027000	0.17364	0.004000	0.04260	1.280000	0.33202	1.229000	0.43630	0.563000	0.77884	GCG		0.577	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		A	134851584	C	A	134851584	3	1	94	1	0	0	0	0	1	0	0	0	2398	739	26	3	224	3	C7orf49	7	134851584	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	5036161	134851584	24287079	70	4949											
PIP	5304	genome.wustl.edu	37	7	142836252	142836252	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:142836252A>G	ENST00000291009.3	+	3	326	c.286A>G	c.(286-288)Aaa>Gaa	p.K96E		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	96					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.K96E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CGACAATCCAAAAACCTTCTA	0.438																																																1	Substitution - Missense(1)	ovary(1)	7											118	106	110					7																	142836252		2203	4299	6502	142546374	SO:0001583	missense	5304				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.286A>G	7.37:g.142836252A>G	ENSP00000291009:p.Lys96Glu		142546374	A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784328	0.31593	.	.	ENSG00000159763	ENST00000291009	T	0.15834	2.39	4.84	-0.831	0.10789	.	0.842865	0.10308	N	0.690317	T	0.06826	0.0174	N	0.08118	0	0.09310	N	1	P	0.36222	0.544	B	0.33690	0.168	T	0.30650	-0.9971	10	0.38643	T	0.18	.	4.1613	0.10285	0.4605:0.3495:0.19:0.0	.	96	P12273	PIP_HUMAN	E	96	ENSP00000291009:K96E	ENSP00000291009:K96E	K	+	1	0	PIP	142546374	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	0.501000	0.22578	0.058000	0.16222	0.528000	0.53228	AAA		0.438	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		G	142836252	A	G	142836252	3	3	94	1	0	0	0	0	1	0	0	0	11935	15	1	4	296	4	PIP	7	142836252	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	7984668	142836252	16302411	71	4950											
SMARCD3	6604	genome.wustl.edu	37	7	150938634	150938634	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:150938634T>A	ENST00000262188.8	-	8	1293	c.883A>T	c.(883-885)Agg>Tgg	p.R295W	SMARCD3_ENST00000392811.2_Missense_Mutation_p.R282W|SMARCD3_ENST00000477169.1_5'Flank|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R282W	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	295	SWIB.				cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R282W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGCAGCCTGTTGGTCTTC	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											47	41	43					7																	150938634		2203	4300	6503	150569567	SO:0001583	missense	6604			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.883A>T	7.37:g.150938634T>A	ENSP00000262188:p.Arg295Trp		150569567	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806936	0.70797	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.45668	0.89;0.89;0.89	5.48	3.17	0.36434	SWIB domain (1);SWIB/MDM2 domain (2);	0.045150	0.85682	D	0.000000	T	0.52980	0.1768	L	0.47190	1.495	0.40528	D	0.980903	D;D;D	0.76494	0.999;0.969;0.965	D;P;P	0.67900	0.954;0.783;0.838	T	0.56153	-0.8026	10	0.87932	D	0	-23.7279	10.9532	0.47343	0.0:0.0:0.355:0.645	.	295;282;295	B7Z4U8;Q6STE5-2;Q6STE5	.;.;SMRD3_HUMAN	W	295;282;282;247	ENSP00000262188:R295W;ENSP00000376558:R282W;ENSP00000349254:R282W	ENSP00000262188:R295W	R	-	1	2	SMARCD3	150569567	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.783000	0.38664	0.899000	0.36444	0.533000	0.62120	AGG		0.582	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		A	150938634	T	A	150938634	3	1	94	1	0	0	0	0	1	0	0	0	14782	1579	55	5	592	5	SMARCD3	7	150938634	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	8102382	150938634	8200029	72	4951											
DNAJB6	10049	genome.wustl.edu	37	7	157178309	157178309	+	Intron	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr7:157178309A>T	ENST00000262177.4	+	8	896				DNAJB6_ENST00000452797.2_Intron|DNAJB6_ENST00000429029.2_Missense_Mutation_p.K232M|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6						intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.?(1)		central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATAAATGGTAAGGAGCAGCTG	0.358																																					Esophageal Squamous(46;195 967 1350 20350 43814)											1	Unknown(1)	ovary(1)	7											113	113	113					7																	157178309		2203	4300	6503	156871070	SO:0001627	intron_variant	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.691+4A>T	7.37:g.157178309A>T			156871070	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	ENST00000262177.4	37	CCDS5946.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281293	0.80692	.	.	ENSG00000105993	ENST00000429029	T	0.61980	0.06	5.7	5.7	0.88788	.	.	.	.	.	T	0.80336	0.4604	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82557	-0.0398	9	0.59425	D	0.04	.	15.9611	0.79930	1.0:0.0:0.0:0.0	.	232	O75190-2	.	M	232	ENSP00000397556:K232M	ENSP00000397556:K232M	K	+	2	0	DNAJB6	156871070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.369000	0.73109	2.171000	0.68590	0.533000	0.62120	AAG		0.358	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			T	157178309	A	T	157178309	1	4	94	0	1	0	0	0	0	0	0	0	4624	72	3	5		5	DNAJB6	7	157178309	Intron	SNP	A	TCGA-13-0885-01A-02W-0421-09	6239675	157178309	1960354	73	4952											
RP1L1	94137	genome.wustl.edu	37	8	10480641	10480641	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr8:10480641G>T	ENST00000382483.3	-	2	294	c.71C>A	c.(70-72)aCc>aAc	p.T24N	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	24					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.T24N(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACCGAGGGGGTGCGAGCCAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	8											35	39	37					8																	10480641		2018	4168	6186	10518051	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.71C>A	8.37:g.10480641G>T	ENSP00000371923:p.Thr24Asn		10518051	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	g	11.62	1.693782	0.30052	.	.	ENSG00000183638	ENST00000382483	T	0.04809	3.55	4.5	2.6	0.31112	.	.	.	.	.	T	0.04861	0.0131	L	0.38531	1.155	0.09310	N	1	P	0.43024	0.798	B	0.42959	0.403	T	0.37549	-0.9701	9	0.40728	T	0.16	-6.3853	4.2672	0.10769	0.0869:0.1549:0.5985:0.1597	.	24	A6NKC6	.	N	24	ENSP00000371923:T24N	ENSP00000371923:T24N	T	-	2	0	RP1L1	10518051	.	.	0.747000	0.31113	0.227000	0.25037	.	.	1.112000	0.41740	0.457000	0.33378	ACC		0.667	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10480641	G	T	10480641	3	4	94	1	0	0	0	0	1	0	0	0	13536	1261	44	3	7143	3	RP1L1	8	10480641	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09		10480641	135883381	74	4953											
UNC5D	137970	genome.wustl.edu	37	8	35541228	35541228	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr8:35541228C>A	ENST00000404895.2	+	5	1062	c.734C>A	c.(733-735)gCc>gAc	p.A245D	UNC5D_ENST00000420357.1_Missense_Mutation_p.A245D|UNC5D_ENST00000453357.2_Missense_Mutation_p.A240D|UNC5D_ENST00000416672.1_Missense_Mutation_p.A245D|UNC5D_ENST00000287272.2_Missense_Mutation_p.A245D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	245					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.A240D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGCCTGTCGGCCACTGTTGTG	0.502																																																1	Substitution - Missense(1)	ovary(1)	8											53	47	49					8																	35541228		2203	4300	6503	35660770	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.734C>A	8.37:g.35541228C>A	ENSP00000385143:p.Ala245Asp		35660770	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945253	0.73672	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.046618	0.85682	D	0.000000	D	0.86973	0.6062	M	0.90198	3.095	0.80722	D	1	D;D;P	0.57257	0.978;0.979;0.954	D;P;P	0.65233	0.933;0.894;0.9	D	0.89015	0.3431	10	0.72032	D	0.01	-24.8971	19.5354	0.95251	0.0:1.0:0.0:0.0	.	245;240;245	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	D	245;245;245;245;240	ENSP00000385143:A245D;ENSP00000392739:A245D;ENSP00000287272:A245D;ENSP00000412652:A245D;ENSP00000394303:A240D	ENSP00000287272:A245D	A	+	2	0	UNC5D	35660770	1.000000	0.71417	0.990000	0.47175	0.467000	0.32768	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	GCC		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			A	35541228	C	A	35541228	3	1	94	1	0	0	0	0	1	0	0	0	16995	739	26	3	752	3	UNC5D	8	35541228	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	25060587	35541228	110822794	75	4954											
RB1CC1	9821	genome.wustl.edu	37	8	53570342	53570342	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr8:53570342C>T	ENST00000025008.5	-	15	2570	c.2047G>A	c.(2047-2049)Gca>Aca	p.A683T	RB1CC1_ENST00000539297.1_Missense_Mutation_p.A683T|RB1CC1_ENST00000435644.2_Missense_Mutation_p.A683T|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	683					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.A683T(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GGACAAACTGCAGGACATAAG	0.423																																					GBM(180;1701 2102 13475 42023 52570)											1	Substitution - Missense(1)	ovary(1)	8											96	97	97					8																	53570342		2203	4300	6503	53732895	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2047G>A	8.37:g.53570342C>T	ENSP00000025008:p.Ala683Thr		53732895	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309231	0.23821	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15952	2.38;2.38;2.38	5.46	2.41	0.29592	.	0.414112	0.28322	N	0.015770	T	0.09774	0.0240	N	0.24115	0.695	0.30182	N	0.800303	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.21177	-1.0253	10	0.19590	T	0.45	-8.3406	7.9563	0.30045	0.0:0.6139:0.2119:0.1742	.	683;683	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	T	683	ENSP00000025008:A683T;ENSP00000396067:A683T;ENSP00000445960:A683T	ENSP00000025008:A683T	A	-	1	0	RB1CC1	53732895	1.000000	0.71417	0.992000	0.48379	0.855000	0.48748	1.419000	0.34793	0.777000	0.33496	0.655000	0.94253	GCA		0.423	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		T	53570342	C	T	53570342	3	4	94	1	0	0	0	0	1	0	0	0	13102	710	25	2	2777	2	RB1CC1	8	53570342	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	18029114	53570342	92793680	76	4955											
SDR16C5	195814	genome.wustl.edu	37	8	57228783	57228783	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr8:57228783T>G	ENST00000303749.3	-	2	761	c.124A>C	c.(124-126)Ata>Cta	p.I42L	SDR16C5_ENST00000396721.2_Missense_Mutation_p.I42L|SDR16C5_ENST00000522671.1_Missense_Mutation_p.I42L	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	42					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)	p.I42L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ATGAGGACTATTTCACCAGCA	0.453																																																1	Substitution - Missense(1)	ovary(1)	8											92	84	86					8																	57228783		2203	4300	6503	57391337	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.124A>C	8.37:g.57228783T>G	ENSP00000307607:p.Ile42Leu		57391337	B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	T	9.430	1.085223	0.20390	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.89485	-2.52;-2.52;-2.29	5.25	1.53	0.23141	NAD(P)-binding domain (1);	0.258991	0.44285	D	0.000469	D	0.84875	0.5569	L	0.39898	1.24	0.45762	D	0.998654	B;B;B	0.25351	0.02;0.124;0.124	B;B;B	0.37387	0.044;0.149;0.248	T	0.77726	-0.2480	10	0.45353	T	0.12	.	8.9017	0.35499	0.0:0.2181:0.0:0.7819	.	42;42;42	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	L	42	ENSP00000379947:I42L;ENSP00000307607:I42L;ENSP00000431010:I42L	ENSP00000307607:I42L	I	-	1	0	SDR16C5	57391337	1.000000	0.71417	0.547000	0.28179	0.036000	0.12997	1.990000	0.40717	0.307000	0.22880	-0.376000	0.06991	ATA		0.453	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		G	57228783	T	G	57228783	3	3	94	1	0	0	0	0	1	0	0	0	13974	1493	52	5	829	5	SDR16C5	8	57228783	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	3658441	57228783	89135239	77	4956											
VPS13B	157680	genome.wustl.edu	37	8	100479763	100479763	+	Silent	SNP	T	T	A	rs144895307		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr8:100479763T>A	ENST00000358544.2	+	24	3678	c.3567T>A	c.(3565-3567)tcT>tcA	p.S1189S	VPS13B_ENST00000357162.2_Silent_p.S1189S|VPS13B_ENST00000395996.1_Silent_p.S1189S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1189					protein transport (GO:0015031)			p.S1189S(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTCACGTCTCAAAAACTGC	0.443																																					Colon(161;2205 2542 7338 31318)											1	Substitution - coding silent(1)	ovary(1)	8											226	197	207					8																	100479763		2203	4300	6503	100548939	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3567T>A	8.37:g.100479763T>A			100548939	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100479763	T	A	100479763	2	1	94	1	0	0	0	0	0	0	0	1	17190	1538	54	5		5	VPS13B	8	100479763	Silent	SNP	T	TCGA-13-0885-01A-02W-0421-09	43250980	100479763	45884259	78	4957											
ODF1	4956	genome.wustl.edu	37	8	103563969	103563969	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr8:103563969G>C	ENST00000285402.3	+	1	170	c.14G>C	c.(13-15)aGt>aCt	p.S5T		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	5					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.S5T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GCTGCACTGAGTTGTCTCTTG	0.473																																																1	Substitution - Missense(1)	ovary(1)	8											126	103	110					8																	103563969		2203	4300	6503	103633145	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.14G>C	8.37:g.103563969G>C	ENSP00000285402:p.Ser5Thr		103633145	Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239549	0.58995	.	.	ENSG00000155087	ENST00000285402	T	0.35973	1.28	5.7	3.81	0.43845	.	0.000000	0.64402	D	0.000006	T	0.17450	0.0419	N	0.08118	0	0.80722	D	1	B	0.14805	0.011	B	0.12156	0.007	T	0.04915	-1.0918	10	0.37606	T	0.19	-20.8441	7.2168	0.25965	0.0899:0.1711:0.739:0.0	.	5	Q14990	ODFP1_HUMAN	T	5	ENSP00000285402:S5T	ENSP00000285402:S5T	S	+	2	0	ODF1	103633145	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.258000	0.43249	1.413000	0.46997	-0.251000	0.11542	AGT		0.473	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			C	103563969	G	C	103563969	3	2	94	1	0	0	0	0	1	0	0	0	10826	1029	36	3	16	3	ODF1	8	103563969	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	3084206	103563969	42800053	79	4958											
COL22A1	169044	genome.wustl.edu	37	8	139737661	139737661	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr8:139737661A>G	ENST00000303045.6	-	24	2608	c.2162T>C	c.(2161-2163)gTc>gCc	p.V721A	COL22A1_ENST00000435777.1_Missense_Mutation_p.V721A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	721	Collagen-like 5.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V721A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGCCTGGGACACCAGGGGG	0.592										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	ovary(1)	8											53	61	59					8																	139737661		2203	4300	6503	139806843	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2162T>C	8.37:g.139737661A>G	ENSP00000303153:p.Val721Ala		139806843	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	A	2.041	-0.420019	0.04734	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94897	-3.55;-3.55	4.94	1.01	0.19927	.	1.381150	0.04994	N	0.467868	D	0.83723	0.5316	N	0.05330	-0.07	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.75651	-0.3244	10	0.05721	T	0.95	.	3.2757	0.06897	0.5516:0.2112:0.2372:0.0	.	721;721	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	A	721;721;434	ENSP00000303153:V721A;ENSP00000387655:V721A	ENSP00000303153:V721A	V	-	2	0	COL22A1	139806843	0.086000	0.21541	0.187000	0.23214	0.862000	0.49288	0.622000	0.24433	0.428000	0.26173	0.533000	0.62120	GTC		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		G	139737661	A	G	139737661	3	3	94	1	0	0	0	0	1	0	0	0	3681	275	10	4	2886	4	COL22A1	8	139737661	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	36173692	139737661	6626361	80	4959											
FREM1	158326	genome.wustl.edu	37	9	14750192	14750192	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr9:14750192G>C	ENST00000380880.3	-	30	6273	c.5490C>G	c.(5488-5490)aaC>aaG	p.N1830K	FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000380881.4_Missense_Mutation_p.N1831K|FREM1_ENST00000422223.2_Missense_Mutation_p.N1830K|FREM1_ENST00000380894.1_Missense_Mutation_p.N366K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1830	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.N1831K(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCACAGGGGAGTTCAGAATTA	0.378																																																1	Substitution - Missense(1)	ovary(1)	9											157	146	150					9																	14750192		1848	4094	5942	14740192	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5490C>G	9.37:g.14750192G>C	ENSP00000370262:p.Asn1830Lys		14740192	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	5.903	0.350646	0.11182	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.51	5.51	0.81932	.	0.233910	0.45126	D	0.000394	T	0.15825	0.0381	L	0.33137	0.985	0.39974	D	0.974825	B;B	0.27791	0.189;0.189	B;B	0.21917	0.037;0.037	T	0.04621	-1.0938	10	0.06099	T	0.92	-24.9419	10.8831	0.46951	0.1453:0.0:0.8547:0.0	.	1830;366	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	K	1831;1830;366;1830	ENSP00000370263:N1831K;ENSP00000412940:N1830K;ENSP00000370278:N366K;ENSP00000370262:N1830K	ENSP00000370262:N1830K	N	-	3	2	FREM1	14740192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.464000	0.53057	2.588000	0.87417	0.563000	0.77884	AAC		0.378	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14750192	G	C	14750192	3	2	94	1	0	0	0	0	1	0	0	0	6044	1020	36	3	1081	3	FREM1	9	14750192	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09		14750192	126463239	81	4960											
NOL6	65083	genome.wustl.edu	37	9	33466931	33466931	+	Silent	SNP	T	T	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr9:33466931T>C	ENST00000379471.2	-	15	2016	c.1929A>G	c.(1927-1929)gcA>gcG	p.A643A	NOL6_ENST00000455041.2_Silent_p.A591A|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	643					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A643A(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CTTGGATAAGTGCATCCAGGG	0.522											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	9											214	233	226					9																	33466931		2203	4300	6503	33456931	SO:0001819	synonymous_variant	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1929A>G	9.37:g.33466931T>C		840	33456931	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37																																																																																					0.522	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		C	33466931	T	C	33466931	2	2	94	1	0	0	0	0	0	0	0	1	10525	1683	59	4		4	NOL6	9	33466931	Silent	SNP	T	TCGA-13-0885-01A-02W-0421-09	18716739	33466931	107746500	82	4961											
ALDH1A1	216	genome.wustl.edu	37	9	75526946	75526946	+	Silent	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr9:75526946C>T	ENST00000297785.3	-	10	1182	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	376					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.G376G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	AGCCTTTATTCCCCCACGGGC	0.438																																																1	Substitution - coding silent(1)	ovary(1)	9											148	132	137					9																	75526946		2203	4300	6503	74716766	SO:0001819	synonymous_variant	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1128G>A	9.37:g.75526946C>T			74716766	O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	CCDS6644.1																																																																																				0.438	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			T	75526946	C	T	75526946	2	4	94	1	0	0	0	0	0	0	0	1	490	842	30	2		2	ALDH1A1	9	75526946	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	42060015	75526946	65686485	83	4962											
CDK5RAP2	55755	genome.wustl.edu	37	9	123234065	123234065	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr9:123234065T>A	ENST00000349780.4	-	16	1998	c.1819A>T	c.(1819-1821)Acc>Tcc	p.T607S	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.T607S|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.T607S|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.T607S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	607					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.T607S(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						tcctccaaggtcttccgcaaa	0.463																																																1	Substitution - Missense(1)	ovary(1)	9											116	108	110					9																	123234065		2203	4300	6503	122273886	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1819A>T	9.37:g.123234065T>A	ENSP00000343818:p.Thr607Ser		122273886	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151618	0.38021	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T;T	0.17528	3.97;3.86;3.96;3.87;2.27	5.32	1.22	0.21188	.	0.707951	0.13842	N	0.358936	T	0.09069	0.0224	L	0.27053	0.805	0.19775	N	0.999952	B;B;P;B	0.34615	0.077;0.047;0.459;0.028	B;B;B;B	0.33254	0.045;0.033;0.16;0.015	T	0.32613	-0.9900	10	0.09084	T	0.74	.	6.7888	0.23687	0.0:0.4632:0.0:0.5368	.	408;607;607;607	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	S	607;607;607;607;33;609	ENSP00000354065:T607S;ENSP00000352258:T607S;ENSP00000343818:T607S;ENSP00000353317:T607S;ENSP00000400395:T33S	ENSP00000341695:T609S	T	-	1	0	CDK5RAP2	122273886	0.644000	0.27277	0.674000	0.29902	0.558000	0.35554	0.496000	0.22499	0.291000	0.22468	0.533000	0.62120	ACC		0.463	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		A	123234065	T	A	123234065	3	1	94	1	0	0	0	0	1	0	0	0	3146	1667	58	5	3954	5	CDK5RAP2	9	123234065	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	47707119	123234065	17979366	84	4963											
RABGAP1	23637	genome.wustl.edu	37	9	125751633	125751633	+	Silent	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr9:125751633C>T	ENST00000373647.4	+	5	782	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	216	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.L144L(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ACAAAATCCTCTTCTGTGTCA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	9											119	119	119					9																	125751633		2203	4300	6503	124791454	SO:0001819	synonymous_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.648C>T	9.37:g.125751633C>T			124791454	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	CCDS6848.2																																																																																				0.403	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		T	125751633	C	T	125751633	2	4	94	1	0	0	0	0	0	0	0	1	12967	900	32	2		2	RABGAP1	9	125751633	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	2517568	125751633	15461798	85	4964											
PIP4K2A	5305	genome.wustl.edu	37	10	22826149	22826149	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr10:22826149A>T	ENST00000376573.4	-	10	1430	c.1202T>A	c.(1201-1203)aTt>aAt	p.I401N	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.I261N|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.I342N	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	401	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.I401N(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GATGTGGCCAATAAAGTCCAA	0.463																																																1	Substitution - Missense(1)	ovary(1)	10											135	112	120					10																	22826149		2203	4300	6503	22866155	SO:0001583	missense	5305			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.1202T>A	10.37:g.22826149A>T	ENSP00000365757:p.Ile401Asn		22866155	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391925	0.83011	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335	T;T;T	0.36520	1.25;1.25;1.25	5.71	5.71	0.89125	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	H	0.95470	3.675	0.80722	D	1	D;D	0.61697	0.985;0.99	D;D	0.70935	0.951;0.971	T	0.81075	-0.1097	10	0.87932	D	0	-28.499	16.0042	0.80349	1.0:0.0:0.0:0.0	.	261;401	B4DH09;P48426	.;PI42A_HUMAN	N	401;261;342	ENSP00000365757:I401N;ENSP00000326294:I261N;ENSP00000442098:I342N	ENSP00000326294:I261N	I	-	2	0	PIP4K2A	22866155	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.962000	0.93254	2.171000	0.68590	0.528000	0.53228	ATT		0.463	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		T	22826149	A	T	22826149	3	4	94	1	0	0	0	0	1	0	0	0	11936	101	4	5	22	5	PIP4K2A	10	22826149	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09		22826149	112708598	86	4965											
PARG	8505	genome.wustl.edu	37	10	51087745	51087745	+	Silent	SNP	A	A	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr10:51087745A>G	ENST00000402038.3	-	5	506	c.507T>C	c.(505-507)tcT>tcC	p.S169S		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	654	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.S654S(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		CTGGGTAACTAGAATACTCCG	0.358																																																1	Substitution - coding silent(1)	ovary(1)	10											114	94	100					10																	51087745		692	1591	2283	50757751	SO:0001819	synonymous_variant	8505			AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.507T>C	10.37:g.51087745A>G			50757751	A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Silent	SNP	ENST00000402038.3	37																																																																																					0.358	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		G	51087745	A	G	51087745	2	3	94	1	0	0	0	0	0	0	0	1	11448	407	15	4		4	PARG	10	51087745	Silent	SNP	A	TCGA-13-0885-01A-02W-0421-09	28261596	51087745	84447002	87	4966											
ARID5B	84159	genome.wustl.edu	37	10	63816939	63816939	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr10:63816939T>G	ENST00000279873.7	+	6	1320	c.910T>G	c.(910-912)Tca>Gca	p.S304A	ARID5B_ENST00000309334.5_Missense_Mutation_p.S61A	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	304					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.S304A(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TAAAAAAGTCTCAAATGAAGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											83	86	85					10																	63816939		2203	4300	6503	63486945	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.910T>G	10.37:g.63816939T>G	ENSP00000279873:p.Ser304Ala		63486945	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.709453	0.30322	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.13420	2.59;2.59	5.96	4.83	0.62350	ARID/BRIGHT DNA-binding domain (1);	1.087730	0.06906	N	0.806756	T	0.15522	0.0374	L	0.44542	1.39	0.29196	N	0.87553	B;B	0.28258	0.205;0.04	B;B	0.26770	0.073;0.009	T	0.29701	-1.0003	10	0.27785	T	0.31	-11.897	12.2338	0.54503	0.0:0.0661:0.0:0.9339	.	61;304	Q14865-2;Q14865	.;ARI5B_HUMAN	A	304;61	ENSP00000279873:S304A;ENSP00000308862:S61A	ENSP00000279873:S304A	S	+	1	0	ARID5B	63486945	1.000000	0.71417	0.928000	0.36995	0.861000	0.49209	3.906000	0.56340	1.082000	0.41137	-0.264000	0.10439	TCA		0.423	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		G	63816939	T	G	63816939	3	3	94	1	0	0	0	0	1	0	0	0	922	1551	54	5	932	5	ARID5B	10	63816939	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	12729194	63816939	71717808	88	4967											
C10orf119	79892	genome.wustl.edu	37	10	121619381	121619381	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr10:121619381T>A	ENST00000360003.3	-	2	243	c.74A>T	c.(73-75)aAt>aTt	p.N25I	MCMBP_ENST00000369077.3_Missense_Mutation_p.N25I|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	25					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.N25I(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CCAGTCAGGATTAACTCCATT	0.343																																																1	Substitution - Missense(1)	ovary(1)	10											84	80	81					10																	121619381		2203	4298	6501	121609371	SO:0001583	missense	79892			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.74A>T	10.37:g.121619381T>A	ENSP00000353098:p.Asn25Ile		121609371	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.779456	0.49891	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.62	0.447	0.16608	.	0.684613	0.14627	N	0.308047	T	0.20007	0.0481	N	0.08118	0	0.33515	D	0.591636	P	0.41265	0.744	B	0.39068	0.289	T	0.25187	-1.0139	9	0.54805	T	0.06	-12.7699	5.5536	0.17103	0.0:0.1426:0.2736:0.5838	.	25	Q9BTE3	MCMBP_HUMAN	I	25	.	ENSP00000353098:N25I	N	-	2	0	MCMBP	121609371	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	0.634000	0.24614	-0.162000	0.10964	0.383000	0.25322	AAT		0.343	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		A	121619381	T	A	121619381	3	1	94	1	0	0	0	0	1	0	0	0	1588	1493	52	5	1914	5	C10orf119	10	121619381	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	57802442	121619381	13915366	89	4968											
DNHD1	144132	genome.wustl.edu	37	11	6530177	6530177	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:6530177G>C	ENST00000527990.2	+	3	988	c.988G>C	c.(988-990)Ggg>Cgg	p.G330R	DNHD1_ENST00000354685.3_Missense_Mutation_p.G330R|DNHD1_ENST00000254579.6_Missense_Mutation_p.G330R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	330					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.G330R(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTCTCCCTTTGGGATCTTGCA	0.517																																																2	Substitution - Missense(2)	ovary(2)	11											178	151	160					11																	6530177		2201	4296	6497	6486753	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.988G>C	11.37:g.6530177G>C	ENSP00000436180:p.Gly330Arg		6486753	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942694	0.73672	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.19250	2.16;2.16;2.16	5.83	4.9	0.64082	.	0.317593	0.27464	N	0.019259	T	0.51329	0.1668	M	0.87381	2.88	0.35763	D	0.820337	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.68667	-0.5348	10	0.87932	D	0	.	13.3274	0.60467	0.0:0.0:0.8415:0.1585	.	330;330	Q96M86;Q96M86-4	DNHD1_HUMAN;.	R	330	ENSP00000254579:G330R;ENSP00000346716:G330R;ENSP00000436180:G330R	ENSP00000254579:G330R	G	+	1	0	DNHD1	6486753	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	5.429000	0.66495	1.418000	0.47098	0.650000	0.86243	GGG		0.517	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6530177	G	C	6530177	3	2	94	1	0	0	0	0	1	0	0	0	4668	1348	47	3	998	3	DNHD1	11	6530177	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09		6530177	128476339	90	4969											
SWAP70	23075	genome.wustl.edu	37	11	9769488	9769488	+	Missense_Mutation	SNP	C	C	T	rs147789282		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:9769488C>T	ENST00000318950.6	+	10	1542	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	SWAP70_ENST00000447399.2_Missense_Mutation_p.A422V	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	480					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.A480V(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACAACCGAGGCGGAGAAGCAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	11						C	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	102	96	98		1439	5.8	0.6	11	dbSNP_134	98	0,8588		0,0,4294	no	missense	SWAP70	NM_015055.2	64	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	480/586	9769488	1,12989	2201	4294	6495	9726064	SO:0001583	missense	23075			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1439C>T	11.37:g.9769488C>T	ENSP00000315630:p.Ala480Val		9726064	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.278106	0.40294	2.27E-4	0.0	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.18960	2.18;2.18	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	L	0.38838	1.175	0.48341	D	0.999637	D;D	0.62365	0.989;0.991	P;B	0.49799	0.622;0.403	T	0.00329	-1.1813	10	0.29301	T	0.29	-14.9098	20.1346	0.98019	0.0:1.0:0.0:0.0	.	422;480	E7EMB1;Q9UH65	.;SWP70_HUMAN	V	422;480	ENSP00000399056:A422V;ENSP00000315630:A480V	ENSP00000315630:A480V	A	+	2	0	SWAP70	9726064	1.000000	0.71417	0.597000	0.28824	0.082000	0.17680	5.681000	0.68175	2.765000	0.95021	0.655000	0.94253	GCG		0.542	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		T	9769488	C	T	9769488	3	4	94	1	0	0	0	0	1	0	0	0	15425	768	27	1	1477	1	SWAP70	11	9769488	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	3239311	9769488	125237028	91	4970											
FSHB	2488	genome.wustl.edu	37	11	30255171	30255171	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:30255171A>G	ENST00000417547.1	+	3	253	c.214A>G	c.(214-216)Aag>Gag	p.K72E	FSHB_ENST00000533718.1_Missense_Mutation_p.K72E|FSHB_ENST00000254122.3_Missense_Mutation_p.K72E	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	72					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.K72E(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						ATGTACCTTCAAGGAACTGGT	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											104	93	96					11																	30255171		2202	4299	6501	30211747	SO:0001583	missense	2488				CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"Endogenous ligands"	3964	protein-coding gene	gene with protein product	"follitropin, beta chain", "follicle-stimulating hormone beta subunit"	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.214A>G	11.37:g.30255171A>G	ENSP00000416606:p.Lys72Glu		30211747	A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834588	0.91036	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.90732	-2.72;-2.72;-2.72	6.17	6.17	0.99709	Cystine knot (1);	0.161123	0.53938	D	0.000060	D	0.94095	0.8107	M	0.85630	2.765	0.58432	D	0.999997	P	0.44627	0.839	P	0.49999	0.628	D	0.94572	0.7772	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	72	P01225	FSHB_HUMAN	E	72	ENSP00000254122:K72E;ENSP00000416606:K72E;ENSP00000433424:K72E	ENSP00000254122:K72E	K	+	1	0	FSHB	30211747	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.587000	0.74071	2.371000	0.80710	0.533000	0.62120	AAG		0.483	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		G	30255171	A	G	30255171	3	3	94	1	0	0	0	0	1	0	0	0	6072	131	5	4	220	4	FSHB	11	30255171	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	20485683	30255171	104751345	92	4971											
OR5T1	390155	genome.wustl.edu	37	11	56043751	56043751	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:56043751T>C	ENST00000313033.2	+	1	723	c.637T>C	c.(637-639)Tac>Cac	p.Y213H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y213H(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTATTCTTCTACTTTGTGGG	0.418																																																1	Substitution - Missense(1)	ovary(1)	11											225	214	218					11																	56043751		2201	4296	6497	55800327	SO:0001583	missense	390155			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.637T>C	11.37:g.56043751T>C	ENSP00000323612:p.Tyr213His		55800327	B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342699	0.24339	.	.	ENSG00000181698	ENST00000313033	T	0.00099	8.73	3.44	-0.859	0.10685	GPCR, rhodopsin-like superfamily (1);	0.580703	0.14149	N	0.338136	T	0.00109	0.0003	L	0.38175	1.15	0.09310	N	1	B	0.24721	0.11	B	0.27262	0.078	T	0.16660	-1.0395	10	0.18276	T	0.48	.	0.5893	0.00725	0.386:0.1155:0.1705:0.328	.	213	Q8NG75	OR5T1_HUMAN	H	213	ENSP00000323612:Y213H	ENSP00000323612:Y213H	Y	+	1	0	OR5T1	55800327	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-1.213000	0.02991	0.063000	0.16370	0.381000	0.24937	TAC		0.418	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		C	56043751	T	C	56043751	3	2	94	1	0	0	0	0	1	0	0	0	11181	1522	53	4	639	4	OR5T1	11	56043751	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	25788580	56043751	78962765	93	4972											
FAM111B	374393	genome.wustl.edu	37	11	58892562	58892562	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:58892562G>A	ENST00000343597.3	+	4	1183	c.992G>A	c.(991-993)aGc>aAc	p.S331N	FAM111B_ENST00000529618.1_Missense_Mutation_p.S301N|FAM111B_ENST00000411426.1_Missense_Mutation_p.S301N	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	331							catalytic activity (GO:0003824)	p.S331N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CAGGATCTAAGCCATTATATT	0.368																																																1	Substitution - Missense(1)	ovary(1)	11											69	82	78					11																	58892562		2196	4292	6488	58649138	SO:0001583	missense	374393			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.992G>A	11.37:g.58892562G>A	ENSP00000341565:p.Ser331Asn		58649138	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.244072	0.01481	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.31769	1.48;1.48;1.48	3.18	0.186	0.15105	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14023	0.01	T	0.21109	-1.0255	9	0.56958	D	0.05	.	6.548	0.22416	0.3191:0.0:0.6809:0.0	.	331	Q6SJ93	F111B_HUMAN	N	301;301;331	ENSP00000393855:S301N;ENSP00000432875:S301N;ENSP00000341565:S331N	ENSP00000341565:S331N	S	+	2	0	FAM111B	58649138	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.086000	0.14935	-0.058000	0.13177	-0.768000	0.03414	AGC		0.368	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		A	58892562	G	A	58892562	3	1	94	1	0	0	0	0	1	0	0	0	5400	971	34	2	998	2	FAM111B	11	58892562	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	2848811	58892562	76113954	94	4973											
MS4A1	931	genome.wustl.edu	37	11	60230495	60230495	+	Silent	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:60230495G>T	ENST00000534668.1	+	3	469	c.180G>T	c.(178-180)ggG>ggT	p.G60G	MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Silent_p.G60G|MS4A1_ENST00000345732.4_Silent_p.G60G|MS4A1_ENST00000389939.2_Silent_p.G60G	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	60					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.G60G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TTATGAATGGGCTCTTCCACA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	11											105	102	103					11																	60230495		2203	4300	6503	59987071	SO:0001819	synonymous_variant	931			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.180G>T	11.37:g.60230495G>T			59987071	A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	ENST00000534668.1	37	CCDS31570.1																																																																																				0.542	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			T	60230495	G	T	60230495	2	4	94	1	0	0	0	0	0	0	0	1	9854	1190	42	3		3	MS4A1	11	60230495	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	1337933	60230495	74776021	95	4974											
ROM1	6094	genome.wustl.edu	37	11	62381310	62381310	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:62381310G>A	ENST00000278833.3	+	1	1098	c.557G>A	c.(556-558)cGt>cAt	p.R186H	EML3_ENST00000278845.4_5'Flank|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000394773.2_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000494176.2_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	186					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)		p.R186H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GTCAGCAGCCGTTACCTGGAT	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											67	76	73					11																	62381310		2202	4299	6501	62137886	SO:0001583	missense	6094			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"Tetraspanins"	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.557G>A	11.37:g.62381310G>A	ENSP00000278833:p.Arg186His		62137886	B2R978	Missense_Mutation	SNP	ENST00000278833.3	37	CCDS8024.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806390	0.70682	.	.	ENSG00000149489	ENST00000278833	T	0.80304	-1.36	4.89	3.01	0.34805	Tetraspanin, EC2 domain (1);	0.059654	0.64402	D	0.000005	D	0.87382	0.6163	M	0.82823	2.61	0.52099	D	0.999947	D	0.76494	0.999	D	0.64687	0.928	D	0.86337	0.1702	10	0.66056	D	0.02	-14.7368	8.2261	0.31570	0.0877:0.1591:0.7532:0.0	.	186	Q03395	ROM1_HUMAN	H	186	ENSP00000278833:R186H	ENSP00000278833:R186H	R	+	2	0	ROM1	62137886	1.000000	0.71417	0.998000	0.56505	0.600000	0.36913	7.222000	0.78025	0.653000	0.30826	0.313000	0.20887	CGT		0.612	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		A	62381310	G	A	62381310	3	1	94	1	0	0	0	0	1	0	0	0	13524	1145	40	1	559	1	ROM1	11	62381310	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	2150815	62381310	72625206	96	4975											
ARHGAP20	57569	genome.wustl.edu	37	11	110453112	110453112	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:110453112A>T	ENST00000260283.4	-	15	1937	c.1653T>A	c.(1651-1653)ttT>ttA	p.F551L	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.F525L|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.F94L|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.F525L|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.F515L|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.F528L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.F515L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	551	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.F551L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTTCTTCTCCAAATATCCTAA	0.348																																																1	Substitution - Missense(1)	ovary(1)	11											116	120	119					11																	110453112		2201	4298	6499	109958322	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1653T>A	11.37:g.110453112A>T	ENSP00000260283:p.Phe551Leu		109958322	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221583	0.58560	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.72942	-0.7;-0.7;1.49;-0.7;-0.7;-0.7;-0.7	5.87	2.31	0.28768	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.064498	0.64402	D	0.000007	T	0.71846	0.3388	M	0.86864	2.845	0.32394	N	0.552793	P;P;P	0.41929	0.765;0.474;0.609	B;B;B	0.41036	0.346;0.188;0.346	T	0.74087	-0.3778	10	0.34782	T	0.22	.	9.557	0.39346	0.8013:0.0:0.1987:0.0	.	525;551;528	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	L	551;525;94;528;515;525;515	ENSP00000260283:F551L;ENSP00000349660:F525L;ENSP00000437905:F94L;ENSP00000432076:F528L;ENSP00000436319:F515L;ENSP00000436522:F525L;ENSP00000431399:F515L	ENSP00000260283:F551L	F	-	3	2	ARHGAP20	109958322	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.388000	0.44398	0.144000	0.18951	-0.326000	0.08463	TTT		0.348	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		T	110453112	A	T	110453112	3	4	94	1	0	0	0	0	1	0	0	0	870	127	5	5	1930	5	ARHGAP20	11	110453112	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	48071802	110453112	24553404	97	4976											
HSPB2	3316	genome.wustl.edu	37	11	111784461	111784461	+	Silent	SNP	C	C	A	rs587679193		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:111784461C>A	ENST00000304298.3	+	2	979	c.391C>A	c.(391-393)Cga>Aga	p.R131R	CRYAB_ENST00000533475.1_5'UTR|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533280.1_5'Flank|HSPB2_ENST00000537382.1_Silent_p.R131R|CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000531198.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	131					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)	p.R131R(1)|p.R131*(1)		large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CGACCCCTGGCGAGTCCGAGC	0.622																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	ovary(2)	11											68	63	64					11																	111784461		2201	4297	6498	111289671	SO:0001819	synonymous_variant	3316			U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"Heat shock proteins / HSPB"	5247	protein-coding gene	gene with protein product		602179	"heat shock 27kD protein 2"			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.391C>A	11.37:g.111784461C>A			111289671	Q6I9U7	Silent	SNP	ENST00000304298.3	37	CCDS8352.1																																																																																				0.622	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			A	111784461	C	A	111784461	2	1	94	1	0	0	0	0	0	0	0	1	7420	760	27	3		3	HSPB2	11	111784461	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	1331349	111784461	23222055	98	4977											
MLL	4297	genome.wustl.edu	37	11	118363844	118363844	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:118363844G>C	ENST00000389506.5	+	16	5068	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H	KMT2A_ENST00000534358.1_Missense_Mutation_p.D1693H|KMT2A_ENST00000354520.4_Missense_Mutation_p.D1652H			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1690					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.D1690H(1)									CGAAGGACCTGATCCACCAGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											112	106	108					11																	118363844		2200	4296	6496	117869054	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5068G>C	11.37:g.118363844G>C	ENSP00000374157:p.Asp1690His		117869054	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560156	0.65538	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83506	-1.73;-1.73;-1.64	5.28	5.28	0.74379	Bromodomain (1);	0.053066	0.64402	D	0.000001	D	0.88559	0.6469	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.993;0.972	D	0.89629	0.3854	10	0.87932	D	0	.	18.9088	0.92474	0.0:0.0:1.0:0.0	.	1693;1690	E9PQG7;Q03164	.;MLL1_HUMAN	H	1693;1690;1652;600	ENSP00000436786:D1693H;ENSP00000374157:D1690H;ENSP00000346516:D1652H	ENSP00000346516:D1652H	D	+	1	0	MLL	117869054	1.000000	0.71417	0.821000	0.32701	0.922000	0.55478	9.320000	0.96346	2.449000	0.82847	0.561000	0.74099	GAT		0.488	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		C	118363844	G	C	118363844	3	2	94	1	0	0	0	0	1	0	0	0	9620	1290	45	3	5130	3	MLL	11	118363844	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	6579383	118363844	16642672	99	4978											
VPS11	55823	genome.wustl.edu	37	11	118948712	118948712	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:118948712G>A	ENST00000300793.6	+	11	1736	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	566					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.G565E(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TTGCTGAAGGGACTTTGTACT	0.572																																																1	Substitution - Missense(1)	ovary(1)	11											123	123	123					11																	118948712		2044	4189	6233	118453922	SO:0001583	missense	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1694G>A	11.37:g.118948712G>A	ENSP00000475301:p.Gly565Glu		118453922	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37																																																																																					0.572	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		A	118948712	G	A	118948712	3	1	94	1	0	0	0	0	1	0	0	0	17188	1174	41	2	1734	2	VPS11	11	118948712	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	584868	118948712	16057804	100	4979											
OR4D5	219875	genome.wustl.edu	37	11	123811042	123811042	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr11:123811042G>C	ENST00000307033.2	+	1	793	c.719G>C	c.(718-720)tGt>tCt	p.C240S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C240S(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGTCTACCTGTGCCTCTCAC	0.542																																																1	Substitution - Missense(1)	ovary(1)	11											239	195	210					11																	123811042		2202	4299	6501	123316252	SO:0001583	missense	219875			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.719G>C	11.37:g.123811042G>C	ENSP00000305970:p.Cys240Ser		123316252	B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787420	0.70337	.	.	ENSG00000171014	ENST00000307033	T	0.00369	7.74	5.49	5.49	0.81192	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.02380	0.0073	H	0.98295	4.195	0.42985	D	0.994474	D	0.71674	0.998	D	0.83275	0.996	T	0.13442	-1.0509	10	0.72032	D	0.01	-10.1946	18.9615	0.92679	0.0:0.0:1.0:0.0	.	240	Q8NGN0	OR4D5_HUMAN	S	240	ENSP00000305970:C240S	ENSP00000305970:C240S	C	+	2	0	OR4D5	123316252	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.481000	0.97933	2.571000	0.86741	0.650000	0.86243	TGT		0.542	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		C	123811042	G	C	123811042	3	2	94	1	0	0	0	0	1	0	0	0	11057	1377	48	3	721	3	OR4D5	11	123811042	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	4862330	123811042	11195474	101	4980											
KCNA5	3741	genome.wustl.edu	37	12	5154498	5154498	+	Silent	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr12:5154498C>A	ENST00000252321.3	+	1	1414	c.1185C>A	c.(1183-1185)tcC>tcA	p.S395S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	395					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.S395S(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AGGCCATGTCCCTGGCCATCC	0.647																																																1	Substitution - coding silent(1)	ovary(1)	12											43	39	41					12																	5154498		2203	4300	6503	5024759	SO:0001819	synonymous_variant	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1185C>A	12.37:g.5154498C>A			5024759	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	CCDS8536.1																																																																																				0.647	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		A	5154498	C	A	5154498	2	1	94	1	0	0	0	0	0	0	0	1	8006	610	22	3		3	KCNA5	12	5154498	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09		5154498	128697397	102	4981											
ANO2	57101	genome.wustl.edu	37	12	5916479	5916479	+	Splice_Site	SNP	G	G	A	rs374528825		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr12:5916479G>A	ENST00000356134.5	-	9	1010	c.939C>T	c.(937-939)gaC>gaT	p.D313D	ANO2_ENST00000327087.8_Splice_Site_p.D312D|ANO2_ENST00000546188.1_Splice_Site_p.D313D	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	317					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.D313D(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TAGTACTTACGTCATGAAGAG	0.438													G|||	1	0.000199681	8e-04	0	5008	,	,		19787	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	12						G		3,3743		0,3,1870	76	73	74		936	-10.5	0.7	12		74	0,8144		0,0,4072	no	coding-synonymous-near-splice	ANO2	NM_020373.2		0,3,5942	AA,AG,GG		0.0,0.0801,0.0252		312/999	5916479	3,11887	1873	4072	5945	5786740	SO:0001630	splice_region_variant	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.939+1C>T	12.37:g.5916479G>A			5786740	C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37																																																																																					0.438	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Silent	A	5916479	G	A	5916479	5	1	94	1	0	0	0	0	0	0	1	0	697	1159	40	1	2136	1	ANO2	12	5916479	Splice_Site	SNP	G	TCGA-13-0885-01A-02W-0421-09	761981	5916479	127935416	103	4982											
CLEC9A	283420	genome.wustl.edu	37	12	10206914	10206914	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr12:10206914G>C	ENST00000355819.1	+	5	749	c.136G>C	c.(136-138)Gga>Cga	p.G46R		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	46					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G46R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TTTCTGCATGGGATTATTAAC	0.318																																																1	Substitution - Missense(1)	ovary(1)	12											173	142	152					12																	10206914		2203	4300	6503	10098181	SO:0001583	missense	283420				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"C-type lectin domain containing"	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.136G>C	12.37:g.10206914G>C	ENSP00000348074:p.Gly46Arg		10098181	B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050022	0.36181	.	.	ENSG00000197992	ENST00000355819	T	0.01446	4.88	3.89	3.0	0.34707	.	0.157757	0.30219	N	0.010125	T	0.06462	0.0166	M	0.64404	1.975	0.20821	N	0.999842	D	0.89917	1.0	D	0.77004	0.989	T	0.09357	-1.0678	10	0.51188	T	0.08	.	7.3063	0.26449	0.1191:0.0:0.8809:0.0	.	46	Q6UXN8	CLC9A_HUMAN	R	46	ENSP00000348074:G46R	ENSP00000348074:G46R	G	+	1	0	CLEC9A	10098181	0.180000	0.23148	0.194000	0.23346	0.485000	0.33311	1.175000	0.31944	1.210000	0.43336	0.591000	0.81541	GGA		0.318	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		C	10206914	G	C	10206914	3	2	94	1	0	0	0	0	1	0	0	0	3522	1233	43	3	142	3	CLEC9A	12	10206914	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	4290435	10206914	123644981	104	4983											
C12orf59	120939	genome.wustl.edu	37	12	10332225	10332225	+	Silent	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr12:10332225C>T	ENST00000381923.2	+	2	456	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	TMEM52B_ENST00000536952.1_Silent_p.L18L|TMEM52B_ENST00000298530.3_Silent_p.S12S			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	18						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S12S(1)									GTATTTCATCCTGGTGAGTTC	0.507																																																1	Substitution - coding silent(1)	ovary(1)	12											162	152	155					12																	10332225		2203	4300	6503	10223492	SO:0001819	synonymous_variant	120939			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.52C>T	12.37:g.10332225C>T			10223492	Q96NA7	Silent	SNP	ENST00000381923.2	37																																																																																					0.507	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		T	10332225	C	T	10332225	2	4	94	1	0	0	0	0	0	0	0	1	1702	668	24	2		2	C12orf59	12	10332225	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	125311	10332225	123519670	105	4984											
OR10AD1	121275	genome.wustl.edu	37	12	48596656	48596656	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr12:48596656C>G	ENST00000310248.2	-	1	514	c.420G>C	c.(418-420)aaG>aaC	p.K140N		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K140N(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						TGACACAGACCTTCTGGCTTA	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											74	65	68					12																	48596656		2203	4300	6503	46882923	SO:0001583	missense	121275				CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"GPCR / Class A : Olfactory receptors"	14819	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily AD, member 1 pseudogene"	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.420G>C	12.37:g.48596656C>G	ENSP00000308689:p.Lys140Asn		46882923	B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	C	0.606	-0.827071	0.02734	.	.	ENSG00000172640	ENST00000310248	T	0.40225	1.04	4.83	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	0.209910	0.24063	N	0.041881	T	0.31295	0.0792	L	0.41632	1.29	0.25595	N	0.986653	B	0.27625	0.183	B	0.28916	0.096	T	0.19128	-1.0315	10	0.36615	T	0.2	-0.1959	9.005	0.36106	0.2885:0.5709:0.1406:0.0	.	140	Q8NGE0	O10AD_HUMAN	N	140	ENSP00000308689:K140N	ENSP00000308689:K140N	K	-	3	2	OR10AD1	46882923	0.000000	0.05858	0.982000	0.44146	0.150000	0.21749	-0.441000	0.06879	0.727000	0.32360	0.561000	0.74099	AAG		0.502	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			G	48596656	C	G	48596656	3	3	94	1	0	0	0	0	1	0	0	0	10896	680	24	3	537	3	OR10AD1	12	48596656	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	38264431	48596656	85255239	106	4985											
SLC17A8	246213	genome.wustl.edu	37	12	100813902	100813902	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr12:100813902C>A	ENST00000323346.5	+	12	2048	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K	SLC17A8_ENST00000392989.3_Missense_Mutation_p.Q529K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	579					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.Q579K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GACATCCTACCAGAATGAAGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											73	65	67					12																	100813902		2203	4300	6503	99338033	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1735C>A	12.37:g.100813902C>A	ENSP00000316909:p.Gln579Lys		99338033	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178566	0.38511	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.67865	0.13;-0.29	4.8	4.8	0.61643	.	0.351400	0.30085	N	0.010446	T	0.45975	0.1369	N	0.14661	0.345	0.31665	N	0.645139	B;B	0.19200	0.02;0.034	B;B	0.22601	0.021;0.04	T	0.37291	-0.9712	10	0.05833	T	0.94	.	13.9424	0.64064	0.0:0.8479:0.1521:0.0	.	579;529	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	K	579;529	ENSP00000316909:Q579K;ENSP00000376715:Q529K	ENSP00000316909:Q579K	Q	+	1	0	SLC17A8	99338033	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.308000	0.33528	2.388000	0.81334	0.591000	0.81541	CAG		0.438	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		A	100813902	C	A	100813902	3	1	94	1	0	0	0	0	1	0	0	0	14426	595	21	3	1781	3	SLC17A8	12	100813902	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	52217246	100813902	33037993	107	4986											
ALDH2	217	genome.wustl.edu	37	12	112228252	112228252	+	Silent	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr12:112228252C>G	ENST00000261733.2	+	6	628	c.567C>G	c.(565-567)ctC>ctG	p.L189L	ALDH2_ENST00000416293.3_Silent_p.L142L|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.S186C	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	189					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.L189L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	ATTTCCCGCTCCTGATGCAAG	0.562			T	HMGA2	leiomyoma																																		Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	1	Substitution - coding silent(1)	ovary(1)	12											129	109	116					12																	112228252		2203	4300	6503	110712635	SO:0001819	synonymous_variant	217			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.567C>G	12.37:g.112228252C>G			110712635	B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Silent	SNP	ENST00000261733.2	37	CCDS9155.1																																																																																				0.562	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		G	112228252	C	G	112228252	2	3	94	1	0	0	0	0	0	0	0	1	496	842	30	3		3	ALDH2	12	112228252	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	11414350	112228252	21623643	108	4987											
C13orf26	122046	genome.wustl.edu	37	13	31526879	31526879	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr13:31526879A>C	ENST00000380473.3	+	3	242	c.229A>C	c.(229-231)Act>Cct	p.T77P		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	77								p.T77P(1)									TGATGAGTACACTTGGAAATC	0.338																																																1	Substitution - Missense(1)	ovary(1)	13											110	105	107					13																	31526879		2203	4296	6499	30424879	SO:0001583	missense	122046			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 26"	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.229A>C	13.37:g.31526879A>C	ENSP00000369840:p.Thr77Pro		30424879		Missense_Mutation	SNP	ENST00000380473.3	37	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	A	2.804	-0.248431	0.05867	.	.	ENSG00000175664	ENST00000380473	T	0.46063	0.88	4.5	-2.92	0.05615	.	1.822020	0.02934	N	0.139637	T	0.25680	0.0625	L	0.34521	1.04	0.09310	N	1	P	0.35982	0.531	B	0.31686	0.134	T	0.09015	-1.0694	10	0.36615	T	0.2	-0.0534	1.2923	0.02062	0.4371:0.1477:0.2655:0.1497	.	77	Q8N6G2	CM026_HUMAN	P	77	ENSP00000369840:T77P	ENSP00000369840:T77P	T	+	1	0	C13orf26	30424879	0.000000	0.05858	0.006000	0.13384	0.081000	0.17604	-0.754000	0.04787	-0.466000	0.06943	-0.456000	0.05471	ACT		0.338	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		C	31526879	A	C	31526879	3	2	94	1	0	0	0	0	1	0	0	0	1722	159	6	5	239	5	C13orf26	13	31526879	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09		31526879	83642999	109	4988											
BRCA2	675	genome.wustl.edu	37	13	32912708	32912711	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs80359435		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	AAAG	AAAG	AAAG	-	AAAG	AAAG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr13:32912708_32912711delAAAG	ENST00000380152.3	+	11	4449_4452	c.4216_4219delAAAG	c.(4216-4221)aaagaafs	p.KE1406fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.KE1406fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1406	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.K1406fs*3(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACTTCAAATAAAGAACAGTTAAC	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	1	Deletion - Frameshift(1)	ovary(1)	13																																								31810711	SO:0001589	frameshift_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4216_4219delAAAG	13.37:g.32912708_32912711delAAAG	ENSP00000369497:p.Lys1406fs		31810708	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	CCDS9344.1																																																																																				0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		-	32912711	AAAG	-	32912708	7	5	94	1	0	1	0	1	0	0	0	0	1499	363	13	0	4254	0	BRCA2	13	32912708	Frame_Shift_Del	DEL	AAAG	TCGA-13-0885-01A-02W-0421-09	1385829	32912708	82257170	110	4989											
TRIM13	10206	genome.wustl.edu	37	13	50587277	50587277	+	Missense_Mutation	SNP	G	G	T	rs372562992		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr13:50587277G>T	ENST00000378182.3	+	2	1939	c.1201G>T	c.(1201-1203)Gtg>Ttg	p.V401L	TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_5'Flank|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000298772.5_Missense_Mutation_p.V404L|TRIM13_ENST00000457662.2_Missense_Mutation_p.V401L|TRIM13_ENST00000420995.2_Missense_Mutation_p.V401L|TRIM13_ENST00000356017.4_Missense_Mutation_p.V404L	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	401					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V401L(1)		large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		GGCAGAATTTGTGTGCAAATA	0.313																																																1	Substitution - Missense(1)	ovary(1)	13											66	73	71					13																	50587277		2202	4300	6502	49485278	SO:0001583	missense	10206			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.1201G>T	13.37:g.50587277G>T	ENSP00000367424:p.Val401Leu		49485278	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930234	0.34096	.	.	ENSG00000204977	ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T	0.25749	1.78;1.78;2.32;1.78;2.32	5.91	4.06	0.47325	.	0.280406	0.33401	N	0.004946	T	0.18551	0.0445	L	0.29908	0.895	0.33110	D	0.540334	B;B	0.19817	0.023;0.039	B;B	0.20184	0.012;0.028	T	0.16512	-1.0400	9	.	.	.	-1.9099	12.1156	0.53863	0.1497:0.0:0.8503:0.0	.	401;404	O60858;O60858-3	TRI13_HUMAN;.	L	401;401;404;401;404	ENSP00000412943:V401L;ENSP00000367424:V401L;ENSP00000348299:V404L;ENSP00000399206:V401L;ENSP00000298772:V404L	.	V	+	1	0	TRIM13	49485278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.700000	0.47085	0.712000	0.32039	0.655000	0.94253	GTG		0.313	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		T	50587277	G	T	50587277	3	4	94	1	0	0	0	0	1	0	0	0	16488	1377	48	3	1216	3	TRIM13	13	50587277	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	17674569	50587277	64582601	111	4990											
CLN5	1203	genome.wustl.edu	37	13	77570168	77570168	+	Silent	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr13:77570168C>T	ENST00000377453.3	+	3	1910	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	157					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)	p.F206F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		ATGCCCCTTTCTGGTGTAATC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	13											171	158	163					13																	77570168		2203	4300	6503	76468169	SO:0001819	synonymous_variant	1203				CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.618C>T	13.37:g.77570168C>T			76468169	B3KQK7	Silent	SNP	ENST00000377453.3	37	CCDS9456.1																																																																																				0.423	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		T	77570168	C	T	77570168	2	4	94	1	0	0	0	0	0	0	0	1	3544	912	32	2		2	CLN5	13	77570168	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	26982891	77570168	37599710	112	4991											
MYCBP2	23077	genome.wustl.edu	37	13	77798611	77798611	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr13:77798611G>C	ENST00000544440.2	-	20	2817	c.2800C>G	c.(2800-2802)Cta>Gta	p.L934V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L972V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L934V					MYC binding protein 2, E3 ubiquitin protein ligase									p.L934V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATGTCCTAGCTGCCCATGC	0.348																																																1	Substitution - Missense(1)	ovary(1)	13											115	108	111					13																	77798611		2203	4300	6503	76696612	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2800C>G	13.37:g.77798611G>C	ENSP00000444596:p.Leu934Val		76696612		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	27.6	4.842104	0.91197	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.97114	-4.25;-4.25;-4.25	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000005	D	0.98921	0.9634	M	0.93678	3.445	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.99437	1.0937	10	0.87932	D	0	.	19.6419	0.95762	0.0:0.0:1.0:0.0	.	934	O75592	MYCB2_HUMAN	V	934;972;934	ENSP00000349892:L934V;ENSP00000384288:L972V;ENSP00000444596:L934V	ENSP00000349892:L934V	L	-	1	2	MYCBP2	76696612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.434000	0.73408	2.640000	0.89533	0.655000	0.94253	CTA		0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		C	77798611	G	C	77798611	3	2	94	1	0	0	0	0	1	0	0	0	10018	962	34	3	11378	3	MYCBP2	13	77798611	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	228443	77798611	37371267	113	4992											
ERCC5	2073	genome.wustl.edu	37	13	103528187	103528187	+	Silent	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr13:103528187C>T	ENST00000355739.4	+	15	4918	c.3495C>T	c.(3493-3495)gcC>gcT	p.A1165A	ERCC5_ENST00000375954.1_Silent_p.A398A|ERCC5_ENST00000472247.1_3'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	1165					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.A1165A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCGTGACCGCCAGATCTGTGT	0.443			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	1	Substitution - coding silent(1)	ovary(1)	13											44	47	46					13																	103528187		2203	4300	6503	102326188	SO:0001819	synonymous_variant	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.3495C>T	13.37:g.103528187C>T			102326188	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	CCDS32004.1																																																																																				0.443	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			T	103528187	C	T	103528187	2	4	94	1	0	0	0	0	0	0	0	1	5216	581	21	2		2	ERCC5	13	103528187	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	25729576	103528187	11641691	114	4993											
IRF9	10379	genome.wustl.edu	37	14	24632648	24632648	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr14:24632648G>T	ENST00000396864.3	+	4	713	c.426G>T	c.(424-426)agG>agT	p.R142S	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.R40S	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	142					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R142S(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTGAGAGGAAGGAGGAAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	14											172	160	164					14																	24632648		2203	4300	6503	23702488	SO:0001583	missense	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.426G>T	14.37:g.24632648G>T	ENSP00000380073:p.Arg142Ser		23702488	D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041641	0.19748	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.98835	-4.2;-5.17	5.01	2.06	0.26882	.	1.493320	0.04107	U	0.313855	D	0.96371	0.8816	L	0.53249	1.67	0.09310	N	1	B;B	0.31026	0.304;0.022	B;B	0.24974	0.057;0.01	D	0.91017	0.4854	10	0.20519	T	0.43	-38.601	3.8162	0.08817	0.1985:0.0:0.6086:0.1929	.	142;142	B4DI86;Q00978	.;IRF9_HUMAN	S	142;72	ENSP00000380073:R142S;ENSP00000313529:R72S	ENSP00000313529:R72S	R	+	3	2	IRF9	23702488	0.877000	0.30153	0.574000	0.28523	0.400000	0.30750	0.457000	0.21875	1.335000	0.45486	0.655000	0.94253	AGG		0.532	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			T	24632648	G	T	24632648	3	4	94	1	0	0	0	0	1	0	0	0	7837	1165	41	3	436	3	IRF9	14	24632648	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09		24632648	82716892	115	4994											
RAB15	376267	genome.wustl.edu	37	14	65417081	65417081	+	Nonsense_Mutation	SNP	C	C	A	rs146206891		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr14:65417081C>A	ENST00000533601.2	-	5	713	c.376G>T	c.(376-378)Gag>Tag	p.E126*	RAB15_ENST00000436278.2_3'UTR|RAB15_ENST00000426039.3_Nonsense_Mutation_p.E80*|FNTB_ENST00000542227.1_Intron|RAB15_ENST00000267512.5_Missense_Mutation_p.R169S|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	126					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.R169S(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CGTTTCTGCTCCTCATCAGCC	0.592																																																1	Substitution - Missense(1)	ovary(1)	14											308	269	282					14																	65417081		2203	4300	6503	64486834	SO:0001587	stop_gained	376267			BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"RAB, member RAS oncogene"	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.376G>T	14.37:g.65417081C>A	ENSP00000434103:p.Glu126*		64486834	G5EMR7|Q86TX7|Q8IW89	Missense_Mutation	SNP	ENST00000533601.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.808827|7.808827	0.98501|0.98501	.|.	.|.	ENSG00000139998|ENSG00000139998	ENST00000533601;ENST00000426039;ENST00000554593|ENST00000267512	.|T	.|0.68479	.|-0.33	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.238929	.|0.21550	.|N	.|0.072759	.|T	.|0.55353	.|0.1915	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B	.|0.19200	.|0.034	.|B	.|0.24394	.|0.053	.|T	.|0.50874	.|-0.8776	.|10	0.30078|0.51188	T|T	0.28|0.08	.|.	18.9094|18.9094	0.92477|0.92477	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|169	.|P59190-2	.|.	X|S	126;80;80|169	.|ENSP00000267512:R169S	ENSP00000434103:E126X|ENSP00000267512:R169S	E|R	-|-	1|3	0|2	RAB15|RAB15	64486834|64486834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	5.234000|5.234000	0.65343|0.65343	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.592	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		A	65417081	C	A	65417081	4	1	94	1	0	0	0	0	0	1	0	0	12904	854	30	3	131	3	RAB15	14	65417081	Nonsense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	40784433	65417081	41932459	116	4995											
GABRA5	2558	genome.wustl.edu	37	15	27128497	27128497	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr15:27128497A>T	ENST00000335625.5	+	6	1178	c.290A>T	c.(289-291)gAc>gTc	p.D97V	GABRA5_ENST00000355395.5_Missense_Mutation_p.D97V|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.D97V|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	97					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.D97V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|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)|Zopiclone(DB01198)	TACACCATAGACGTGTTTTTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	15											95	102	100					15																	27128497		2025	4193	6218	24679590	SO:0001583	missense	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.290A>T	15.37:g.27128497A>T	ENSP00000335592:p.Asp97Val		24679590	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378960	0.82682	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92580	0.7643	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94614	0.7807	10	0.87932	D	0	.	14.9054	0.70715	1.0:0.0:0.0:0.0	.	97	P31644	GBRA5_HUMAN	V	97;97;65;97;97;97;65	ENSP00000335592:D97V;ENSP00000347557:D97V;ENSP00000450653:D65V;ENSP00000382953:D97V;ENSP00000450806:D97V;ENSP00000450717:D97V;ENSP00000450529:D65V	ENSP00000335592:D97V	D	+	2	0	GABRA5	24679590	1.000000	0.71417	0.458000	0.27068	0.825000	0.46686	8.992000	0.93519	2.177000	0.69029	0.459000	0.35465	GAC		0.592	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			T	27128497	A	T	27128497	3	4	94	1	0	0	0	0	1	0	0	0	6164	275	10	5	304	5	GABRA5	15	27128497	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09		27128497	75402895	117	4996											
UNC13C	440279	genome.wustl.edu	37	15	54307266	54307266	+	Silent	SNP	A	A	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr15:54307266A>C	ENST00000260323.11	+	1	2166	c.2166A>C	c.(2164-2166)ccA>ccC	p.P722P	UNC13C_ENST00000545554.1_Silent_p.P722P|UNC13C_ENST00000537900.1_Silent_p.P722P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	722					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.P722P(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTCTTCTCCATGCCCTGGCT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	15											33	32	32					15																	54307266		1880	4117	5997	52094558	SO:0001819	synonymous_variant	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2166A>C	15.37:g.54307266A>C			52094558	Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	CCDS45264.1																																																																																				0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54307266	A	C	54307266	2	2	94	1	0	0	0	0	0	0	0	1	16986	204	8	5		5	UNC13C	15	54307266	Silent	SNP	A	TCGA-13-0885-01A-02W-0421-09	27178769	54307266	48224126	118	4997											
ERN2	10595	genome.wustl.edu	37	16	23711932	23711932	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr16:23711932C>T	ENST00000457008.2	-	12	1335	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	ERN2_ENST00000256797.4_Missense_Mutation_p.G533R					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGGCTGGCCCCCGAGTGCAGG	0.622																																																0			16											71	72	71					16																	23711932		2197	4300	6497	23619433	SO:0001583	missense	10595			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1297G>A	16.37:g.23711932C>T	ENSP00000413812:p.Gly433Arg		23619433		Missense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	C	3.067	-0.191937	0.06299	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.59906	0.23;0.27	3.9	1.4	0.22301	.	1.304430	0.04908	N	0.452624	T	0.31857	0.0810	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.19679	-1.0298	10	0.13853	T	0.58	.	5.4088	0.16336	0.0:0.6669:0.0:0.3331	.	433;485	E7ETG2;A5YM65	.;.	R	533;433	ENSP00000256797:G533R;ENSP00000413812:G433R	ENSP00000256797:G533R	G	-	1	0	ERN2	23619433	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.543000	0.23237	0.373000	0.24621	0.561000	0.74099	GGG		0.622	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			T	23711932	C	T	23711932	3	4	94	1	0	0	0	0	1	0	0	0	5238	623	22	2	1367	2	ERN2	16	23711932	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09		23711932	66642821	119	4998											
ZNF764	92595	genome.wustl.edu	37	16	30567208	30567208	+	Silent	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr16:30567208G>A	ENST00000252797.2	-	3	614	c.534C>T	c.(532-534)taC>taT	p.Y178Y	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Silent_p.Y177Y	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y178Y(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						TCCCGCACACGTAGCAGCCAT	0.652																																																1	Substitution - coding silent(1)	ovary(1)	16											21	22	21					16																	30567208		2194	4297	6491	30474709	SO:0001819	synonymous_variant	92595			BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"Zinc fingers, C2H2-type", "-"	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.534C>T	16.37:g.30567208G>A			30474709	A8MZF4|B3KSN2|H9KV99|Q9BWS1	Silent	SNP	ENST00000252797.2	37	CCDS10683.1																																																																																				0.652	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		A	30567208	G	A	30567208	2	1	94	1	0	0	0	0	0	0	0	1	18138	1140	40	1		1	ZNF764	16	30567208	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	6855276	30567208	59787545	120	4999											
EXOC3L	283849	genome.wustl.edu	37	16	67220960	67220960	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr16:67220960A>C	ENST00000314586.6	-	6	1362	c.1122T>G	c.(1120-1122)atT>atG	p.I374M	EXOC3L1_ENST00000562887.1_5'UTR	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	374					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)		p.I374M(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCAGCTGCTCAATGTTCTCCA	0.557																																																2	Substitution - Missense(2)	ovary(2)	16											109	110	110					16																	67220960		2198	4300	6498	65778461	SO:0001583	missense	283849			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1122T>G	16.37:g.67220960A>C	ENSP00000325674:p.Ile374Met		65778461	A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.605132	0.46423	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.20069	3.22;2.1	4.61	-9.23	0.00672	.	0.512901	0.20508	N	0.090945	T	0.24586	0.0596	M	0.63428	1.95	0.29614	N	0.84673	D;D;D	0.63880	0.993;0.988;0.966	P;P;P	0.62298	0.878;0.9;0.787	T	0.05273	-1.0895	10	0.52906	T	0.07	-1.3945	2.8909	0.05676	0.3184:0.2351:0.3524:0.0941	.	313;313;374	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	M	374;313;318	ENSP00000325674:I374M;ENSP00000439910:I313M	ENSP00000325008:I318M	I	-	3	3	EXOC3L1	65778461	0.003000	0.15002	0.268000	0.24571	0.720000	0.41350	-1.534000	0.02212	-1.810000	0.01230	0.374000	0.22700	ATT		0.557	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		C	67220960	A	C	67220960	3	2	94	1	0	0	0	0	1	0	0	0	5304	126	5	5	1154	5	EXOC3L	16	67220960	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	36653752	67220960	23133793	121	5000											
CAMTA2	23125	genome.wustl.edu	37	17	4886184	4886184	+	Silent	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr17:4886184A>T	ENST00000348066.3	-	5	330	c.207T>A	c.(205-207)ccT>ccA	p.P69P	CAMTA2_ENST00000381311.5_Silent_p.P71P|CAMTA2_ENST00000414043.3_Silent_p.P92P|CAMTA2_ENST00000572543.1_Silent_p.P69P|CAMTA2_ENST00000571831.1_5'UTR|CAMTA2_ENST00000358183.4_Silent_p.P69P|CAMTA2_ENST00000361571.5_Silent_p.P92P	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	69					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.P69P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGCCATTCTGAGGCCTGGGAA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	17											120	114	116					17																	4886184		2203	4300	6503	4826908	SO:0001819	synonymous_variant	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.207T>A	17.37:g.4886184A>T			4826908	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	ENST00000348066.3	37	CCDS11063.1																																																																																				0.542	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		T	4886184	A	T	4886184	2	4	94	1	0	0	0	0	0	0	0	1	2614	291	11	5		5	CAMTA2	17	4886184	Silent	SNP	A	TCGA-13-0885-01A-02W-0421-09		4886184	76309026	122	5001											
SENP3	26168	genome.wustl.edu	37	17	7469076	7469076	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr17:7469076G>A	ENST00000429205.2	+	6	1307	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	SENP3_ENST00000321337.7_Missense_Mutation_p.E420K|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	420	Protease.					cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)	p.E420K(1)		central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				CACAGTCCCTGAAAAGGTAGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	17											64	65	65					17																	7469076		1971	4145	6116	7409800	SO:0001583	missense	26168			AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.1258G>A	17.37:g.7469076G>A	ENSP00000403712:p.Glu420Lys		7409800	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	37		.	.	.	.	.	.	.	.	.	.	G	14.61	2.587000	0.46110	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.39997	1.63;1.05	5.93	5.93	0.95920	.	0.059358	0.64402	D	0.000004	T	0.40815	0.1132	L	0.31294	0.92	0.51233	D	0.999918	P	0.51791	0.948	P	0.48704	0.587	T	0.07046	-1.0793	10	0.33141	T	0.24	-11.0423	15.8364	0.78801	0.0:0.0:1.0:0.0	.	420	Q9H4L4	SENP3_HUMAN	K	420	ENSP00000314029:E420K;ENSP00000403712:E420K	ENSP00000314029:E420K	E	+	1	0	SENP3	7409800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.737000	0.55060	2.814000	0.96858	0.563000	0.77884	GAA		0.507	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		A	7469076	G	A	7469076	3	1	94	1	0	0	0	0	1	0	0	0	14051	1291	45	2	1276	2	SENP3	17	7469076	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	2582892	7469076	73726134	123	5002											
TP53	7157	genome.wustl.edu	37	17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr17:7578492C>T	ENST00000269305.4	-	5	627	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*	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	146	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)	TGGAATCAACCCACAGCTGCA	0.602		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"	65	Substitution - Nonsense(45)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Missense(2)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	lung(9)|liver(8)|breast(7)|large_intestine(6)|upper_aerodigestive_tract(5)|endometrium(5)|central_nervous_system(4)|oesophagus(4)|ovary(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|soft_tissue(1)|biliary_tract(1)|pancreas(1)	17											58	57	57					17																	7578492		2203	4300	6503	7519217	SO:0001587	stop_gained	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.438G>A	17.37:g.7578492C>T	ENSP00000269305:p.Trp146*		7519217	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653238	0.47362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	4.52	0.55395	.	0.722123	0.13656	N	0.371928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8394	7.2875	0.26348	0.1676:0.7467:0.0:0.0857	.	.	.	.	X	146;146;146;146;146;146;135;53;14;53;14;146	.	ENSP00000269305:W146X	W	-	3	0	TP53	7519217	0.545000	0.26449	0.478000	0.27316	0.067000	0.16453	1.174000	0.31932	1.452000	0.47756	0.655000	0.94253	TGG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578492	C	T	7578492	4	4	94	1	0	0	0	0	0	1	0	0	16381	624	22	2	860	2	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	109416	7578492	73616718	124	5003											
DNAH2	146754	genome.wustl.edu	37	17	7637928	7637928	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr17:7637928C>G	ENST00000572933.1	+	7	2340	c.880C>G	c.(880-882)Cag>Gag	p.Q294E	DNAH2_ENST00000570791.1_Missense_Mutation_p.Q294E|DNAH2_ENST00000082259.3_Missense_Mutation_p.Q294E|DNAH2_ENST00000389173.2_Missense_Mutation_p.Q294E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	294	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q294E(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATCAGTAAGCAGCTGGTGAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	17											116	100	106					17																	7637928		2203	4300	6503	7578653	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.880C>G	17.37:g.7637928C>G	ENSP00000458355:p.Gln294Glu		7578653	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629169	0.87560	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.68903	-0.36;-0.36	5.53	5.53	0.82687	Dynein heavy chain, domain-1 (1);	3.447900	0.00465	N	0.000104	D	0.87196	0.6117	M	0.82433	2.59	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.71721	-0.4507	10	0.87932	D	0	.	18.228	0.89924	0.0:1.0:0.0:0.0	.	294;294	Q9P225;Q9P225-3	DYH2_HUMAN;.	E	294	ENSP00000373825:Q294E;ENSP00000082259:Q294E	ENSP00000082259:Q294E	Q	+	1	0	DNAH2	7578653	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.871000	0.75531	2.613000	0.88420	0.455000	0.32223	CAG		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		G	7637928	C	G	7637928	3	3	94	1	0	0	0	0	1	0	0	0	4602	711	25	3	902	3	DNAH2	17	7637928	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	59436	7637928	73557282	125	5004											
MYH4	4622	genome.wustl.edu	37	17	10350372	10350372	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr17:10350372C>A	ENST00000255381.2	-	35	5237	c.5127G>T	c.(5125-5127)gaG>gaT	p.E1709D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1709					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.E1709D(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATCCAGAAGCTCTTGCTCTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	17											155	125	135					17																	10350372		2203	4300	6503	10291097	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5127G>T	17.37:g.10350372C>A	ENSP00000255381:p.Glu1709Asp		10291097		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342658	0.82022	.	.	ENSG00000141048	ENST00000255381	D	0.81579	-1.51	5.29	-0.231	0.13086	Myosin tail (1);	0.000000	0.37530	U	0.002049	T	0.81894	0.4919	M	0.80028	2.48	0.40099	D	0.976349	P	0.46064	0.872	P	0.48270	0.572	T	0.80560	-0.1328	10	0.49607	T	0.09	.	10.0138	0.42003	0.0:0.5878:0.0:0.4122	.	1709	Q9Y623	MYH4_HUMAN	D	1709	ENSP00000255381:E1709D	ENSP00000255381:E1709D	E	-	3	2	MYH4	10291097	0.145000	0.22656	0.997000	0.53966	0.991000	0.79684	-0.427000	0.06999	0.063000	0.16370	0.563000	0.77884	GAG		0.493	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10350372	C	A	10350372	3	1	94	1	0	0	0	0	1	0	0	0	10037	796	28	3	716	3	MYH4	17	10350372	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	2712444	10350372	70844838	126	5005											
MYH2	4620	genome.wustl.edu	37	17	10428144	10428144	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr17:10428144T>A	ENST00000245503.5	-	34	5285	c.4901A>T	c.(4900-4902)cAg>cTg	p.Q1634L	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1634L|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1634					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q1634L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGGTTCAGCTGGATTTCCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											205	177	187					17																	10428144		2203	4298	6501	10368869	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4901A>T	17.37:g.10428144T>A	ENSP00000245503:p.Gln1634Leu		10368869	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417329	0.62622	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78924	-1.22;-1.22	5.44	5.44	0.79542	Myosin tail (1);	0.000000	0.37304	U	0.002144	D	0.88194	0.6371	H	0.96269	3.795	0.58432	D	0.999999	P	0.34462	0.454	B	0.43155	0.41	D	0.90412	0.4410	10	0.87932	D	0	.	15.662	0.77193	0.0:0.0:0.0:1.0	.	1634	Q9UKX2	MYH2_HUMAN	L	1634	ENSP00000245503:Q1634L;ENSP00000380367:Q1634L	ENSP00000245503:Q1634L	Q	-	2	0	MYH2	10368869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.778000	0.85637	2.277000	0.76020	0.482000	0.46254	CAG		0.517	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10428144	T	A	10428144	3	1	94	1	0	0	0	0	1	0	0	0	10035	1580	55	5	952	5	MYH2	17	10428144	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	77772	10428144	70767066	127	5006											
ENPP7	339221	genome.wustl.edu	37	17	77705007	77705007	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr17:77705007G>C	ENST00000328313.5	+	1	327	c.106G>C	c.(106-108)Gtg>Ctg	p.V36L		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.V36L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTGCTCCTGGTGTCCTTCGA	0.662																																																1	Substitution - Missense(1)	ovary(1)	17											43	39	40					17																	77705007		2203	4300	6503	75319602	SO:0001583	missense	339221			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.106G>C	17.37:g.77705007G>C	ENSP00000332656:p.Val36Leu		75319602		Missense_Mutation	SNP	ENST00000328313.5	37	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076153	0.55646	.	.	ENSG00000182156	ENST00000328313	T	0.69306	-0.39	4.59	1.54	0.23209	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.237937	0.36628	N	0.002490	T	0.65719	0.2718	L	0.55743	1.74	0.34653	D	0.72188	P	0.41947	0.766	P	0.49387	0.609	T	0.70160	-0.4948	10	0.52906	T	0.07	-37.6038	7.5502	0.27793	0.3403:0.0:0.6597:0.0	.	36	Q6UWV6	ENPP7_HUMAN	L	36	ENSP00000332656:V36L	ENSP00000332656:V36L	V	+	1	0	ENPP7	75319602	0.961000	0.32948	0.509000	0.27700	0.612000	0.37316	1.838000	0.39211	0.191000	0.20236	0.561000	0.74099	GTG		0.662	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		C	77705007	G	C	77705007	3	2	94	1	0	0	0	0	1	0	0	0	5135	1261	44	3	108	3	ENPP7	17	77705007	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	67276863	77705007	3490203	128	5007											
CARD14	79092	genome.wustl.edu	37	17	78169022	78169022	+	Silent	SNP	C	C	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr17:78169022C>A	ENST00000573882.1	+	12	1925	c.1389C>A	c.(1387-1389)tcC>tcA	p.S463S	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.S463S|CARD14_ENST00000344227.2_Silent_p.S463S|CARD14_ENST00000392434.2_Silent_p.S226S			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	463					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)	p.S463S(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTGCCACGTCCAGCCGCGAGC	0.672																																																1	Substitution - coding silent(1)	ovary(1)	17											38	37	38					17																	78169022		2203	4300	6503	75783617	SO:0001819	synonymous_variant	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1389C>A	17.37:g.78169022C>A			75783617	B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	CCDS11768.1																																																																																				0.672	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			A	78169022	C	A	78169022	2	1	94	1	0	0	0	0	0	0	0	1	2646	581	21	3		3	CARD14	17	78169022	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	464015	78169022	3026188	129	5008											
LAMA1	284217	genome.wustl.edu	37	18	6999910	6999910	+	Splice_Site	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr18:6999910C>T	ENST00000389658.3	-	31	4562	c.4469G>A	c.(4468-4470)aGg>aAg	p.R1490K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1490	Laminin EGF-like 16. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R1490K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCCATGTACCTTTCACAGTG	0.438																																																1	Substitution - Missense(1)	ovary(1)	18											82	71	75					18																	6999910		2203	4300	6503	6989910	SO:0001630	splice_region_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4469+1G>A	18.37:g.6999910C>T			6989910		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816976	0.32145	.	.	ENSG00000101680	ENST00000389658	T	0.62941	-0.01	5.43	4.37	0.52481	EGF-like, laminin (4);	0.190435	0.37906	N	0.001896	T	0.55146	0.1902	L	0.49571	1.57	0.32932	D	0.517218	B	0.30146	0.27	B	0.31337	0.128	T	0.63220	-0.6686	9	.	.	.	.	12.9973	0.58654	0.0:0.8667:0.0:0.1333	.	1490	P25391	LAMA1_HUMAN	K	1490	ENSP00000374309:R1490K	.	R	-	2	0	LAMA1	6989910	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	3.307000	0.51888	2.549000	0.85964	0.655000	0.94253	AGG		0.438	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Missense_Mutation	T	6999910	C	T	6999910	5	4	94	1	0	0	0	0	0	0	1	0	8605	695	24	2	4890	2	LAMA1	18	6999910	Splice_Site	SNP	C	TCGA-13-0885-01A-02W-0421-09		6999910	71077338	130	5009											
LAMA1	284217	genome.wustl.edu	37	18	7015726	7015726	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr18:7015726A>T	ENST00000389658.3	-	22	3214	c.3121T>A	c.(3121-3123)Tgc>Agc	p.C1041S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1041	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.C1041S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTCACCTGGCACCCCACCTCC	0.517																																																1	Substitution - Missense(1)	ovary(1)	18											138	116	123					18																	7015726		2203	4300	6503	7005726	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3121T>A	18.37:g.7015726A>T	ENSP00000374309:p.Cys1041Ser		7005726		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701718	0.68501	.	.	ENSG00000101680	ENST00000389658	D	0.94280	-3.39	5.36	5.36	0.76844	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99659	1.0993	10	0.87932	D	0	.	15.6451	0.77042	1.0:0.0:0.0:0.0	.	1041	P25391	LAMA1_HUMAN	S	1041	ENSP00000374309:C1041S	ENSP00000374309:C1041S	C	-	1	0	LAMA1	7005726	1.000000	0.71417	0.922000	0.36590	0.245000	0.25701	9.134000	0.94467	2.158000	0.67659	0.523000	0.50628	TGC		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7015726	A	T	7015726	3	4	94	1	0	0	0	0	1	0	0	0	8605	159	6	5	6274	5	LAMA1	18	7015726	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	15816	7015726	71061522	131	5010											
DTNA	1837	genome.wustl.edu	37	18	32398247	32398247	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr18:32398247G>C	ENST00000399113.3	+	7	829	c.829G>C	c.(829-831)Ggt>Cgt	p.G277R	DTNA_ENST00000596745.1_Intron|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000269190.7_Missense_Mutation_p.G277R|DTNA_ENST00000554864.3_Missense_Mutation_p.G277R|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000444659.1_Missense_Mutation_p.G277R|DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000595022.1_Missense_Mutation_p.G277R|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000598142.1_Missense_Mutation_p.G277R|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000269191.6_Missense_Mutation_p.G277R|AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000348997.5_Missense_Mutation_p.G277R|DTNA_ENST00000283365.9_Missense_Mutation_p.G277R|DTNA_ENST00000399121.5_Missense_Mutation_p.G277R|DTNA_ENST00000598334.1_Missense_Mutation_p.G277R|DTNA_ENST00000597599.1_Missense_Mutation_p.G277R|DTNA_ENST00000315456.6_Missense_Mutation_p.G277R|DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000598774.1_Missense_Mutation_p.G277R			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	277	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.G277R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGGACATGCCGGTGGTTCTCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	18											123	99	107					18																	32398247		2203	4300	6503	30652245	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.829G>C	18.37:g.32398247G>C	ENSP00000382064:p.Gly277Arg		30652245	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288415	0.59976	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	5.87	2.72	0.32119	Zinc finger, ZZ-type (3);	0.425847	0.27821	N	0.017718	D	0.83403	0.5247	N	0.20685	0.6	0.80722	D	1	P;B;P;B;B;P;B;P;P;B;B;B	0.46277	0.875;0.113;0.454;0.293;0.16;0.679;0.063;0.464;0.464;0.16;0.095;0.409	P;B;B;P;B;B;B;B;B;B;B;B	0.46208	0.471;0.399;0.406;0.507;0.203;0.406;0.214;0.306;0.425;0.094;0.113;0.299	T	0.81204	-0.1039	10	0.87932	D	0	-8.4574	5.3848	0.16213	0.5319:0.0:0.468:0.0	.	27;277;277;277;277;277;277;288;277;277;277;277	B7Z3X3;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	R	277	ENSP00000283365:G277R;ENSP00000322519:G277R;ENSP00000269190:G277R;ENSP00000336682:G277R;ENSP00000382072:G277R;ENSP00000405819:G277R;ENSP00000269191:G277R;ENSP00000382064:G277R	ENSP00000269190:G277R	G	+	1	0	DTNA	30652245	1.000000	0.71417	0.736000	0.30914	0.995000	0.86356	4.400000	0.59709	0.812000	0.34326	0.650000	0.86243	GGT		0.507	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		C	32398247	G	C	32398247	3	2	94	1	0	0	0	0	1	0	0	0	4788	1116	39	3	855	3	DTNA	18	32398247	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	25382521	32398247	45679001	132	5011											
TMED1	11018	genome.wustl.edu	37	19	10945651	10945651	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr19:10945651C>T	ENST00000214869.2	-	3	522	c.424G>A	c.(424-426)Gag>Aag	p.E142K	TMED1_ENST00000591695.1_Intron|TMED1_ENST00000588289.1_5'UTR|C19orf38_ENST00000592854.1_5'Flank	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	142					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E142K(1)		breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						TCCTCGGGCTCCACAGCCTCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											173	161	165					19																	10945651		2203	4300	6503	10806651	SO:0001583	missense	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.424G>A	19.37:g.10945651C>T	ENSP00000214869:p.Glu142Lys		10806651		Missense_Mutation	SNP	ENST00000214869.2	37	CCDS12249.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069597	0.36470	.	.	ENSG00000099203	ENST00000214869	T	0.17054	2.3	5.02	5.02	0.67125	GOLD (1);	0.101810	0.64402	D	0.000003	T	0.22666	0.0547	M	0.76838	2.35	0.80722	D	1	B	0.26708	0.157	B	0.29267	0.1	T	0.14172	-1.0482	10	0.06365	T	0.9	-20.9249	17.1231	0.86706	0.0:1.0:0.0:0.0	.	142	Q13445	TMED1_HUMAN	K	142	ENSP00000214869:E142K	ENSP00000214869:E142K	E	-	1	0	TMED1	10806651	0.997000	0.39634	0.990000	0.47175	0.987000	0.75469	2.223000	0.42936	2.337000	0.79520	0.462000	0.41574	GAG		0.557	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		T	10945651	C	T	10945651	3	4	94	1	0	0	0	0	1	0	0	0	16002	864	30	2	267	2	TMED1	19	10945651	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09		10945651	48183332	133	5012											
MLL4	9757	genome.wustl.edu	37	19	36223567	36223567	+	Silent	SNP	G	G	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr19:36223567G>T	ENST00000222270.7	+	28	6117	c.6117G>T	c.(6115-6117)gtG>gtT	p.V2039V	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.V2039V	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2039					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V2041V(1)									ACTTCCCTGTGACTGTGGTGT	0.692																																																1	Substitution - coding silent(1)	ovary(1)	19											22	26	25					19																	36223567		2011	4151	6162	40915407	SO:0001819	synonymous_variant	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6117G>T	19.37:g.36223567G>T			40915407	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonstop_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1																																																																																				0.692	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36223567	G	T	36223567	2	4	94	1	0	0	0	0	0	0	0	1	9623	1277	45	3		3	MLL4	19	36223567	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	25277916	36223567	22905416	134	5013											
BCL3	602	genome.wustl.edu	37	19	45259535	45259535	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr19:45259535C>T	ENST00000164227.5	+	3	701	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	153					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R145W(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				AGCTGTGCACCGGCTGGTCAA	0.622			T	IGH@	CLL																																		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	1	Substitution - Missense(1)	ovary(1)	19											41	37	38					19																	45259535		2203	4300	6503	49951375	SO:0001583	missense	602			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.457C>T	19.37:g.45259535C>T	ENSP00000164227:p.Arg153Trp		49951375		Missense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.351668|2.351668	0.41700|0.41700	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000444487|ENST00000403534;ENST00000164227	.|T	.|0.64618	.|-0.11	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Ankyrin repeat-containing domain (3);	.|0.517985	.|0.16082	.|N	.|0.230468	T|T	0.48874|0.48874	0.1524|0.1524	L|L	0.31926|0.31926	0.97|0.97	0.09310|0.09310	N|N	1|1	.|B	.|0.27192	.|0.171	.|B	.|0.15870	.|0.014	T|T	0.45804|0.45804	-0.9236|-0.9236	5|10	.|0.56958	.|D	.|0.05	-14.9321|-14.9321	10.3791|10.3791	0.44101|0.44101	0.1959:0.8041:0.0:0.0|0.1959:0.8041:0.0:0.0	.|.	.|153	.|P20749	.|BCL3_HUMAN	L|W	36|113;153	.|ENSP00000164227:R153W	.|ENSP00000164227:R153W	P|R	+|+	2|1	0|2	BCL3|BCL3	49951375|49951375	0.025000|0.025000	0.19082|0.19082	0.013000|0.013000	0.15412|0.15412	0.553000|0.553000	0.35397|0.35397	1.889000|1.889000	0.39718|0.39718	2.141000|2.141000	0.66446|0.66446	0.462000|0.462000	0.41574|0.41574	CCG|CGG		0.622	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		T	45259535	C	T	45259535	3	4	94	1	0	0	0	0	1	0	0	0	1375	643	23	1	467	1	BCL3	19	45259535	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	9035968	45259535	13869448	135	5014											
CCDC8	83987	genome.wustl.edu	37	19	46915879	46915879	+	Silent	SNP	G	G	A	rs201425257		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr19:46915879G>A	ENST00000307522.3	-	1	962	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	63					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.T63T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCGGGTGCggggtgctcttct	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		10669	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19																																								51607719	SO:0001819	synonymous_variant	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.189C>T	19.37:g.46915879G>A			51607719	Q8TB26	Silent	SNP	ENST00000307522.3	37	CCDS12685.1																																																																																				0.667	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		A	46915879	G	A	46915879	2	1	94	1	0	0	0	0	0	0	0	1	2853	1219	43	2		2	CCDC8	19	46915879	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09	1656344	46915879	12213104	136	5015											
DHX34	9704	genome.wustl.edu	37	19	47856814	47856814	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr19:47856814A>C	ENST00000328771.4	+	2	876	c.527A>C	c.(526-528)aAg>aCg	p.K176T		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	176	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.K176T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGACGCTGAAGGAGCACCAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											37	41	40					19																	47856814		2203	4300	6503	52548654	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.527A>C	19.37:g.47856814A>C	ENSP00000331907:p.Lys176Thr		52548654	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	A	6.687	0.495387	0.12762	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.06218	3.33	5.26	-2.26	0.06867	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.845655	0.09965	N	0.732897	T	0.07279	0.0184	L	0.58810	1.83	0.09310	N	1	P;P	0.37781	0.601;0.608	B;B	0.39876	0.312;0.227	T	0.34254	-0.9836	10	0.23302	T	0.38	-1.208	6.7269	0.23361	0.3623:0.2443:0.3934:0.0	.	176;176	Q14147;B4E3G3	DHX34_HUMAN;.	T	176	ENSP00000331907:K176T	ENSP00000257252:K176T	K	+	2	0	DHX34	52548654	0.000000	0.05858	0.039000	0.18376	0.104000	0.19210	-0.126000	0.10563	-0.594000	0.05836	-0.388000	0.06559	AAG		0.642	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		C	47856814	A	C	47856814	3	2	94	1	0	0	0	0	1	0	0	0	4507	72	3	5	529	5	DHX34	19	47856814	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	940935	47856814	11272169	137	5016											
SULT2A1	6822	genome.wustl.edu	37	19	48386926	48386926	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr19:48386926T>C	ENST00000222002.3	-	2	392	c.253A>G	c.(253-255)Aca>Gca	p.T85A		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	85					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.T85A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CTGAGTGCTGTATACCCAATC	0.527																																																1	Substitution - Missense(1)	ovary(1)	19											142	106	118					19																	48386926		2203	4300	6503	53078738	SO:0001583	missense	6822			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"Sulfotransferases, cytosolic"	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.253A>G	19.37:g.48386926T>C	ENSP00000222002:p.Thr85Ala		53078738		Missense_Mutation	SNP	ENST00000222002.3	37	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	T	0.762	-0.768990	0.02974	.	.	ENSG00000105398	ENST00000222002	T	0.01584	4.75	2.83	-4.92	0.03075	Sulfotransferase domain (1);	2.385940	0.01781	N	0.031738	T	0.01029	0.0034	N	0.03224	-0.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47911	-0.9080	10	0.27785	T	0.31	.	7.0836	0.25245	0.0:0.5335:0.1476:0.319	.	85	Q06520	ST2A1_HUMAN	A	85	ENSP00000222002:T85A	ENSP00000222002:T85A	T	-	1	0	SULT2A1	53078738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.940000	0.01543	-1.299000	0.02344	-0.269000	0.10298	ACA		0.527	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		C	48386926	T	C	48386926	3	2	94	1	0	0	0	0	1	0	0	0	15381	1638	57	4	624	4	SULT2A1	19	48386926	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	530112	48386926	10742057	138	5017											
SLC6A16	28968	genome.wustl.edu	37	19	49812592	49812592	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr19:49812592G>A	ENST00000335875.4	-	6	1194	c.953C>T	c.(952-954)gCa>gTa	p.A318V	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.A318V	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	318					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A318V(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GCCAAATTTTGCCCCTTCCAG	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											72	73	73					19																	49812592		1927	4127	6054	54504404	SO:0001583	missense	28968			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.953C>T	19.37:g.49812592G>A	ENSP00000338627:p.Ala318Val		54504404	Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801472	0.70682	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.80033	-1.33;-1.33	4.37	1.07	0.20283	.	0.404030	0.25774	N	0.028398	D	0.88160	0.6362	M	0.91872	3.25	0.09310	N	0.999999	D;D	0.59357	0.985;0.985	P;P	0.60345	0.873;0.873	T	0.79671	-0.1706	10	0.87932	D	0	.	8.0368	0.30496	0.2795:0.0:0.7205:0.0	.	318;318	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	V	318	ENSP00000338627:A318V;ENSP00000404022:A318V	ENSP00000338627:A318V	A	-	2	0	SLC6A16	54504404	0.302000	0.24454	0.001000	0.08648	0.082000	0.17680	2.066000	0.41452	0.354000	0.24105	0.561000	0.74099	GCA		0.498	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		A	49812592	G	A	49812592	3	1	94	1	0	0	0	0	1	0	0	0	14682	1319	46	2	1285	2	SLC6A16	19	49812592	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	1425666	49812592	9316391	139	5018											
HAS1	3036	genome.wustl.edu	37	19	52219569	52219569	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr19:52219569C>T	ENST00000222115.1	-	4	1035	c.1001G>A	c.(1000-1002)tGt>tAt	p.C334Y	HAS1_ENST00000601714.1_Missense_Mutation_p.C341Y|HAS1_ENST00000594621.1_Intron|HAS1_ENST00000540069.2_Missense_Mutation_p.C333Y	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	334					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.C334Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCCAAAAGTACAGTGGGTACC	0.547																																					NSCLC(132;636 2450 45807 47979)											1	Substitution - Missense(1)	ovary(1)	19											118	107	111					19																	52219569		2203	4300	6503	56911381	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1001G>A	19.37:g.52219569C>T	ENSP00000222115:p.Cys334Tyr		56911381	Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	15.54	2.863522	0.51482	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.44482	0.92;0.92	3.35	3.35	0.38373	.	0.176934	0.48767	U	0.000178	T	0.61009	0.2313	M	0.76574	2.34	0.58432	D	0.999999	D;D;D	0.64830	0.971;0.994;0.994	P;D;D	0.67900	0.866;0.954;0.954	T	0.67051	-0.5768	10	0.87932	D	0	-25.5905	12.592	0.56447	0.0:1.0:0.0:0.0	.	333;334;333	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	Y	333;334	ENSP00000445021:C333Y;ENSP00000222115:C334Y	ENSP00000222115:C334Y	C	-	2	0	HAS1	56911381	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	7.614000	0.82996	1.608000	0.50180	0.165000	0.16767	TGT		0.547	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		T	52219569	C	T	52219569	3	4	94	1	0	0	0	0	1	0	0	0	6961	478	17	2	743	2	HAS1	19	52219569	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	2406977	52219569	6909414	140	5019											
LAIR1	3903	genome.wustl.edu	37	19	54867969	54867974	+	In_Frame_Del	DEL	GCTGTG	GCTGTG	-	rs141607224		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	GCTGTG	GCTGTG	GCTGTG	-	GCTGTG	GCTGTG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr19:54867969_54867974delGCTGTG	ENST00000391742.2	-	7	769_774	c.617_622delCACAGC	c.(616-624)ccacagcag>cag	p.PQ206del	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391743.3_In_Frame_Del_p.PQ188del|LAIR1_ENST00000434277.2_In_Frame_Del_p.PQ205del|LAIR1_ENST00000313038.6_In_Frame_Del_p.PQ199del|LAIR1_ENST00000474878.1_In_Frame_Del_p.PQ188del|LAIR1_ENST00000348231.4_In_Frame_Del_p.PQ189del			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	206					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P206_Q207del(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCTCACCTCTGCTGTGGCTTCTGCTC	0.592																																																1	Deletion - In frame(1)	ovary(1)	19																																								59559786	SO:0001651	inframe_deletion	3903			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.617_622delCACAGC	19.37:g.54867969_54867974delGCTGTG	ENSP00000375622:p.Pro206_Gln207del		59559781		In_Frame_Del	DEL	ENST00000391742.2	37	CCDS12891.1																																																																																				0.592	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			-	54867974	GCTGTG	-	54867969	7	5	94	1	0	1	0	1	0	0	0	0	8602	1328	46	0	257	0	LAIR1	19	54867969	In_Frame_Del	DEL	GCTGTG	TCGA-13-0885-01A-02W-0421-09	2648400	54867969	4261014	141	5020											
CSRP2BP	57325	genome.wustl.edu	37	20	18142728	18142728	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr20:18142728G>C	ENST00000435364.3	+	5	1288	c.947G>C	c.(946-948)aGc>aCc	p.S316T	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S188T|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.S315T	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	316					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.S316T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TCCTCCTTGAGCTCCTCTGAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	20											146	162	157					20																	18142728		2203	4300	6503	18090728	SO:0001583	missense	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.947G>C	20.37:g.18142728G>C	ENSP00000392318:p.Ser316Thr		18090728	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267744	0.59540	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.18502	2.21;2.21;2.21;2.33	5.87	4.93	0.64822	.	0.039802	0.85682	D	0.000000	T	0.14527	0.0351	N	0.24115	0.695	0.58432	D	0.999995	P;B	0.37500	0.597;0.435	B;B	0.40285	0.325;0.115	T	0.10520	-1.0626	10	0.22109	T	0.4	-22.2941	15.3445	0.74324	0.0669:0.0:0.9331:0.0	.	188;316	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	T	316;315;316;188	ENSP00000278816:S316T;ENSP00000366909:S315T;ENSP00000392318:S316T;ENSP00000425909:S188T	ENSP00000278816:S316T	S	+	2	0	CSRP2BP	18090728	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.274000	0.78538	1.627000	0.50400	0.655000	0.94253	AGC		0.532	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		C	18142728	G	C	18142728	3	2	94	1	0	0	0	0	1	0	0	0	3968	971	34	3	965	3	CSRP2BP	20	18142728	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09		18142728	44882792	142	5021											
DEFB115	245929	genome.wustl.edu	37	20	29845473	29845473	+	Missense_Mutation	SNP	C	C	A	rs191451885		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr20:29845473C>A	ENST00000400552.1	+	1	7	c.7C>A	c.(7-9)Cca>Aca	p.P3T		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	3					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.P3T(1)		kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAATGCTGCCAGATCATTT	0.498																																																1	Substitution - Missense(1)	ovary(1)	20											98	93	95					20																	29845473		1975	4164	6139	29309134	SO:0001583	missense	245929			DQ012019	CCDS42859.1	20q11.1	2008-07-17			ENSG00000215547	ENSG00000215547		"Defensins, beta"	18096	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037730		Approved	DEFB-15	uc002wvp.1	Q30KQ5	OTTHUMG00000159284	ENST00000400552.1:c.7C>A	20.37:g.29845473C>A	ENSP00000383398:p.Pro3Thr		29309134		Missense_Mutation	SNP	ENST00000400552.1	37	CCDS42859.1	.	.	.	.	.	.	.	.	.	.	C	1.660	-0.511750	0.04200	.	.	ENSG00000215547	ENST00000400552	T	0.29655	1.56	3.12	1.13	0.20643	.	.	.	.	.	T	0.15565	0.0375	.	.	.	0.09310	N	1	P	0.42518	0.782	B	0.34779	0.189	T	0.11591	-1.0581	8	0.32370	T	0.25	.	4.3332	0.11073	0.0:0.6303:0.2368:0.1329	.	3	Q30KQ5	DB115_HUMAN	T	3	ENSP00000383398:P3T	ENSP00000383398:P3T	P	+	1	0	DEFB115	29309134	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	0.345000	0.23873	-0.241000	0.12123	CCA		0.498	DEFB115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354402.1	NM_001037730		A	29845473	C	A	29845473	3	1	94	1	0	0	0	0	1	0	0	0	4404	739	26	3	9	3	DEFB115	20	29845473	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	11702745	29845473	33180047	143	5022											
HCK	3055	genome.wustl.edu	37	20	30681801	30681801	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr20:30681801G>A	ENST00000520553.1	+	11	1411	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	HCK_ENST00000375852.2_Missense_Mutation_p.E410K|HCK_ENST00000375862.2_Missense_Mutation_p.E409K|HCK_ENST00000534862.1_Missense_Mutation_p.E390K|HCK_ENST00000538448.1_Missense_Mutation_p.E389K|HCK_ENST00000518730.1_Missense_Mutation_p.E388K	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E389K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	TGAGGACAACGAGTACACGGC	0.552																																																1	Substitution - Missense(1)	ovary(1)	20											165	134	144					20																	30681801		2203	4300	6503	30145462	SO:0001583	missense	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1165G>A	20.37:g.30681801G>A	ENSP00000429848:p.Glu389Lys		30145462	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179248	0.78564	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.05	4.06	0.47325	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.139699	0.46145	D	0.000317	T	0.75874	0.3909	N	0.21240	0.645	0.54753	D	0.999983	B;P	0.36125	0.242;0.538	B;B	0.39840	0.207;0.311	T	0.79938	-0.1592	10	0.87932	D	0	.	14.831	0.70149	0.0:0.1434:0.8566:0.0	.	388;410	P08631-3;P08631	.;HCK_HUMAN	K	390;389;409;389;388;410	ENSP00000444986:E390K;ENSP00000441169:E389K;ENSP00000365022:E409K;ENSP00000429848:E389K;ENSP00000427757:E388K;ENSP00000365012:E410K	ENSP00000365012:E410K	E	+	1	0	HCK	30145462	1.000000	0.71417	0.981000	0.43875	0.940000	0.58332	6.441000	0.73439	2.632000	0.89209	0.542000	0.68232	GAG		0.552	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			A	30681801	G	A	30681801	3	1	94	1	0	0	0	0	1	0	0	0	6994	1059	37	1	1276	1	HCK	20	30681801	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	836328	30681801	32343719	144	5023											
C20orf185	359710	genome.wustl.edu	37	20	31647277	31647277	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr20:31647277G>A	ENST00000375494.3	+	3	375	c.375G>A	c.(373-375)atG>atA	p.M125I	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	125	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.M125I(1)									AAGTGGGCATGCATTGCTCTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											67	59	62					20																	31647277		2203	4299	6502	31110938	SO:0001583	missense	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.375G>A	20.37:g.31647277G>A	ENSP00000364643:p.Met125Ile		31110938	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	1.356	-0.589965	0.03799	.	.	ENSG00000186190	ENST00000375494	T	0.03468	3.92	4.34	3.34	0.38264	.	0.357444	0.20416	N	0.092772	T	0.01387	0.0045	N	0.02539	-0.55	0.22489	N	0.999057	B	0.02656	0.0	B	0.06405	0.002	T	0.47262	-0.9131	10	0.02654	T	1	-6.0536	9.2855	0.37755	0.0:0.241:0.759:0.0	.	125	P59826	BPIB3_HUMAN	I	125	ENSP00000364643:M125I	ENSP00000364643:M125I	M	+	3	0	BPIFB3	31110938	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	2.718000	0.47236	2.253000	0.74438	0.561000	0.74099	ATG		0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		A	31647277	G	A	31647277	3	1	94	1	0	0	0	0	1	0	0	0	2097	1319	46	2	385	2	C20orf185	20	31647277	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	965476	31647277	31378243	145	5024											
C20orf185	359710	genome.wustl.edu	37	20	31656714	31656714	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr20:31656714G>A	ENST00000375494.3	+	10	1084	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	362					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A362T(1)									CTCCCTCCCAGCCAACATCCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	20											129	94	106					20																	31656714		2203	4300	6503	31120375	SO:0001583	missense	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1084G>A	20.37:g.31656714G>A	ENSP00000364643:p.Ala362Thr		31120375	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279556	0.40294	.	.	ENSG00000186190	ENST00000375494	T	0.09911	2.93	4.25	4.25	0.50352	.	0.127728	0.35013	N	0.003506	T	0.17831	0.0428	M	0.70275	2.135	0.21147	N	0.999771	P	0.45348	0.856	P	0.45753	0.492	T	0.07139	-1.0788	10	0.46703	T	0.11	-7.9546	12.3459	0.55119	0.0:0.0:1.0:0.0	.	362	P59826	BPIB3_HUMAN	T	362	ENSP00000364643:A362T	ENSP00000364643:A362T	A	+	1	0	BPIFB3	31120375	0.020000	0.18652	0.789000	0.31954	0.027000	0.11550	1.858000	0.39408	2.368000	0.80403	0.591000	0.81541	GCC		0.602	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		A	31656714	G	A	31656714	3	1	94	1	0	0	0	0	1	0	0	0	2097	971	34	2	1122	2	C20orf185	20	31656714	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	9437	31656714	31368806	146	5025											
BPI	671	genome.wustl.edu	37	20	36932679	36932679	+	Silent	SNP	C	C	T	rs201427770		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr20:36932679C>T	ENST00000262865.4	+	1	155	c.66C>T	c.(64-66)gtC>gtT	p.V22V	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	22					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.V22V(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGGTGCTGGTCGCCATAGGCA	0.632													C|||	1	0.000199681	0	0	5008	,	,		16062	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	20											71	63	66					20																	36932679		2203	4300	6503	36366093	SO:0001819	synonymous_variant	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.66C>T	20.37:g.36932679C>T			36366093	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	CCDS13303.1																																																																																				0.632	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		T	36932679	C	T	36932679	2	4	94	1	0	0	0	0	0	0	0	1	1490	871	31	1		1	BPI	20	36932679	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	5275965	36932679	26092841	147	5026											
STAU1	6780	genome.wustl.edu	37	20	47752392	47752392	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr20:47752392C>T	ENST00000371856.2	-	6	997	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	STAU1_ENST00000347458.5_Missense_Mutation_p.R115Q|STAU1_ENST00000371828.3_Missense_Mutation_p.R115Q|STAU1_ENST00000371792.1_Missense_Mutation_p.R115Q|STAU1_ENST00000360426.4_Missense_Mutation_p.R115Q|STAU1_ENST00000340954.7_Missense_Mutation_p.R115Q|STAU1_ENST00000371802.1_Missense_Mutation_p.R115Q	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	196	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.R196Q(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGGCAAGTTCCGTTTAAGTGC	0.323																																																1	Substitution - Missense(1)	ovary(1)	20											102	93	96					20																	47752392		2202	4300	6502	47185799	SO:0001583	missense	6780				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.587G>A	20.37:g.47752392C>T	ENSP00000360922:p.Arg196Gln		47185799	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678151	0.96764	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	T;T;T;T;T;T;T;T	0.76316	-0.25;-1.01;-1.01;-1.01;-1.01;-0.25;-1.01;-0.25	5.77	5.77	0.91146	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.050019	0.85682	D	0.000000	D	0.87732	0.6251	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.984	D	0.88075	0.2803	10	0.87932	D	0	-12.9136	19.5894	0.95501	0.0:1.0:0.0:0.0	.	196;115	O95793;Q5JW29	STAU1_HUMAN;.	Q	115;115;196;115;115;115;115;115;115	ENSP00000360893:R115Q;ENSP00000345425:R115Q;ENSP00000360922:R196Q;ENSP00000353604:R115Q;ENSP00000323443:R115Q;ENSP00000360867:R115Q;ENSP00000360857:R115Q;ENSP00000416779:R115Q	ENSP00000345425:R115Q	R	-	2	0	STAU1	47185799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.603000	0.74145	2.720000	0.93068	0.557000	0.71058	CGG		0.323	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		T	47752392	C	T	47752392	3	4	94	1	0	0	0	0	1	0	0	0	15274	652	23	1	1200	1	STAU1	20	47752392	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	10819713	47752392	15273128	148	5027											
TSHZ2	128553	genome.wustl.edu	37	20	51871911	51871911	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr20:51871911A>C	ENST00000371497.5	+	2	2801	c.1914A>C	c.(1912-1914)gaA>gaC	p.E638D	TSHZ2_ENST00000329613.6_Missense_Mutation_p.E635D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.E635D|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	638					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E638D(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCAAAAGTGAAACACCTCCAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	20											56	61	60					20																	51871911		2203	4300	6503	51305318	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1914A>C	20.37:g.51871911A>C	ENSP00000360552:p.Glu638Asp		51305318	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	1.857	-0.463530	0.04476	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.42513	0.97;0.97	5.24	0.194	0.15143	.	0.177411	0.49305	D	0.000158	T	0.29190	0.0726	L	0.39085	1.19	0.20489	N	0.999897	B	0.06786	0.001	B	0.06405	0.002	T	0.19976	-1.0289	10	0.40728	T	0.16	-13.8958	9.9414	0.41583	0.5645:0.0:0.4355:0.0	.	638	Q9NRE2	TSH2_HUMAN	D	638;635;164	ENSP00000360552:E638D;ENSP00000333114:E635D	ENSP00000333114:E635D	E	+	3	2	TSHZ2	51305318	0.199000	0.23386	0.011000	0.14972	0.014000	0.08584	0.812000	0.27211	0.036000	0.15547	0.523000	0.50628	GAA		0.542	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		C	51871911	A	C	51871911	3	2	94	1	0	0	0	0	1	0	0	0	16624	11	1	5	1920	5	TSHZ2	20	51871911	Missense_Mutation	SNP	A	TCGA-13-0885-01A-02W-0421-09	4119519	51871911	11153609	149	5028											
USP25	29761	genome.wustl.edu	37	21	17242434	17242434	+	Silent	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr21:17242434C>G	ENST00000285679.6	+	21	3012	c.2643C>G	c.(2641-2643)ctC>ctG	p.L881L	USP25_ENST00000285681.2_Silent_p.L913L|USP25_ENST00000400183.2_Silent_p.L951L|USP25_ENST00000351097.5_Silent_p.L276L	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	881					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.L881L(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CTATGTATCTCATAATTGGGC	0.323																																																1	Substitution - coding silent(1)	ovary(1)	21											86	98	94					21																	17242434		2203	4295	6498	16164305	SO:0001819	synonymous_variant	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2643C>G	21.37:g.17242434C>G			16164305	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932457	0.18131	.	.	ENSG00000155313	ENST00000449491	.	.	.	5.86	0.822	0.18806	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4879	0.22099	0.0:0.5328:0.1154:0.3517	.	.	.	.	X	180	.	.	S	+	2	0	USP25	16164305	0.997000	0.39634	0.995000	0.50966	0.994000	0.84299	0.441000	0.21611	-0.116000	0.11893	0.591000	0.81541	TCA		0.323	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			G	17242434	C	G	17242434	2	3	94	1	0	0	0	0	0	0	0	1	17056	813	29	3		3	USP25	21	17242434	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09		17242434	30887461	150	5029											
DERL3	91319	genome.wustl.edu	37	22	24179304	24179304	+	Silent	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr22:24179304G>A	ENST00000318109.7	-	6	577	c.561C>T	c.(559-561)gaC>gaT	p.D187D	DERL3_ENST00000406855.3_Silent_p.D187D|DERL3_ENST00000404056.1_Silent_p.D160D|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000476077.1_Silent_p.D187D			Q96Q80	DERL3_HUMAN	derlin 3	187					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.D187D(1)		ovary(1)|prostate(1)|skin(1)	3						TGGGGAAGACGTCCTCCAGGA	0.617																																																1	Substitution - coding silent(1)	ovary(1)	22											76	70	72					22																	24179304		2203	4300	6503	22509304	SO:0001819	synonymous_variant	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.561C>T	22.37:g.24179304G>A			22509304	F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Silent	SNP	ENST00000318109.7	37	CCDS33615.1																																																																																				0.617	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		A	24179304	G	A	24179304	2	1	94	1	0	0	0	0	0	0	0	1	4448	1136	40	1		1	DERL3	22	24179304	Silent	SNP	G	TCGA-13-0885-01A-02W-0421-09		24179304	27125262	151	5030											
UPB1	51733	genome.wustl.edu	37	22	24909450	24909450	+	Silent	SNP	C	C	T	rs138608016		TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr22:24909450C>T	ENST00000326010.5	+	5	962	c.618C>T	c.(616-618)aaC>aaT	p.N206N	UPB1_ENST00000413389.2_Silent_p.N138N	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	206	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.N206N(1)|p.N206K(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GTGATTTCAACGAGGTGAGCC	0.512																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	urinary_tract(1)|ovary(1)	22						C		3,4403	6.2+/-15.9	0,3,2200	52	43	46		618	-11	0.1	22	dbSNP_134	46	0,8600		0,0,4300	no	coding-synonymous	UPB1	NM_016327.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		206/385	24909450	3,13003	2203	4300	6503	23239450	SO:0001819	synonymous_variant	51733			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.618C>T	22.37:g.24909450C>T			23239450	A3KMF8|Q9UIR3	Silent	SNP	ENST00000326010.5	37	CCDS13827.1																																																																																				0.512	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			T	24909450	C	T	24909450	2	4	94	1	0	0	0	0	0	0	0	1	17002	535	19	1		1	UPB1	22	24909450	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	730146	24909450	26395116	152	5031											
SNRPD3	6634	genome.wustl.edu	37	22	24953654	24953654	+	Silent	SNP	T	T	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chr22:24953654T>C	ENST00000215829.3	+	2	599	c.12T>C	c.(10-12)ggT>ggC	p.G4G	GUCD1_ENST00000402766.1_5'Flank|GUCD1_ENST00000447813.2_5'Flank|GUCD1_ENST00000404664.3_5'Flank|GUCD1_ENST00000435822.1_5'Flank|SNRPD3_ENST00000402849.1_Silent_p.G4G|GUCD1_ENST00000407471.3_5'Flank	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	4					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.G4G(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						TGTCTATTGGTGTGCCGATTA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	22											200	169	180					22																	24953654		2203	4300	6503	23283654	SO:0001819	synonymous_variant	6634			U15009	CCDS13828.1	22q11.23	2011-10-11	2002-08-29		ENSG00000100028	ENSG00000100028			11160	protein-coding gene	gene with protein product		601062	"small nuclear ribonucleoprotein D3 polypeptide (18kD)"			1701240, 7527560	Standard	NM_004175		Approved	SMD3, Sm-D3	uc003aam.1	P62318	OTTHUMG00000150727	ENST00000215829.3:c.12T>C	22.37:g.24953654T>C			23283654	B4DJP7|B5BU13|P43331	Silent	SNP	ENST00000215829.3	37	CCDS13828.1																																																																																				0.483	SNRPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319813.1	NM_004175		C	24953654	T	C	24953654	2	2	94	1	0	0	0	0	0	0	0	1	14869	1683	59	4		4	SNRPD3	22	24953654	Silent	SNP	T	TCGA-13-0885-01A-02W-0421-09	44204	24953654	26350912	153	5032											
CSF2RA	1438	genome.wustl.edu	37	X	1407745	1407745	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:1407745G>A	ENST00000381524.3	+	6	623	c.437G>A	c.(436-438)cGt>cAt	p.R146H	CSF2RA_ENST00000355432.3_Missense_Mutation_p.R146H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R146H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R146H|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R146H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R146H|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R146H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R146H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R146H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R13H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	146					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R146H(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGGCCCCCCGTGACGTCCAG	0.478																																					Esophageal Squamous(131;723 1707 25334 40494 41806)											1	Substitution - Missense(1)	ovary(1)	X											105	115	111					X																	1407745		2203	4295	6498	1367745	SO:0001583	missense	1438			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.437G>A	X.37:g.1407745G>A	ENSP00000370935:p.Arg146His		1367745	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	2.977	-0.211060	0.06140	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-1.74;-1.74;-3.78;-1.74;-1.74;-3.78;-1.74;-1.74;-3.78;-1.74	2.02	-4.04	0.04010	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	1.224780	0.06602	U	0.753965	D	0.89525	0.6740	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.0;0.003;0.0;0.001;0.001;0.002	T	0.74867	-0.3518	9	0.35671	T	0.21	.	3.8976	0.09146	0.3415:0.3598:0.2987:0.0	.	146;146;146;146;146;146	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	H	146;146;146;146;13;146;146;146;146;146;146;146;146	ENSP00000370940:R146H;ENSP00000416437:R146H;ENSP00000354836:R146H;ENSP00000440491:R13H;ENSP00000370935:R146H;ENSP00000410667:R146H;ENSP00000397452:R146H;ENSP00000370920:R146H;ENSP00000348058:R146H;ENSP00000347606:R146H;ENSP00000394227:R146H;ENSP00000370911:R146H	ENSP00000347606:R146H	R	+	2	0	CSF2RA	1367745	0.003000	0.15002	0.000000	0.03702	0.073000	0.16967	-0.819000	0.04462	-2.129000	0.00817	-0.799000	0.03217	CGT		0.478	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			A	1407745	G	A	1407745	3	1	94	1	0	0	0	0	1	0	0	0	3934	1145	40	1	451	1	CSF2RA	23	1407745	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09		1407745	153862815	154	5033											
MSL3	10943	genome.wustl.edu	37	X	11781906	11781906	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:11781906C>T	ENST00000312196.4	+	8	862	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F	MSL3_ENST00000380693.3_Missense_Mutation_p.L87F|MSL3_ENST00000398527.2_Missense_Mutation_p.L241F|MSL3_ENST00000361672.2_Missense_Mutation_p.L104F|MSL3_ENST00000337339.2_Missense_Mutation_p.L253F	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	253	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L253F(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CAGTGTTGACCTTTGTAAGGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											169	151	157					X																	11781906		2203	4300	6503	11691827	SO:0001583	missense	10943			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.757C>T	X.37:g.11781906C>T	ENSP00000312244:p.Leu253Phe		11691827	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477089	0.63849	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000398527;ENST00000380693;ENST00000380692	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	5.06	4.18	0.49190	.	0.071450	0.53938	D	0.000042	T	0.38134	0.1029	M	0.86178	2.8	0.41853	D	0.990188	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.998;0.996;0.998;1.0	T	0.31364	-0.9946	10	0.66056	D	0.02	.	9.6398	0.39833	0.0:0.8338:0.0:0.1662	.	241;104;194;253;253	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	F	253;253;104;241;87;87	ENSP00000312244:L253F;ENSP00000338078:L253F;ENSP00000354562:L104F;ENSP00000381538:L241F;ENSP00000370069:L87F;ENSP00000370068:L87F	ENSP00000312244:L253F	L	+	1	0	MSL3	11691827	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.475000	0.35409	2.090000	0.63153	0.538000	0.68166	CTT		0.373	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		T	11781906	C	T	11781906	3	4	94	1	0	0	0	0	1	0	0	0	9879	681	24	2	787	2	MSL3	23	11781906	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	10374161	11781906	143488654	155	5034											
MAP7D2	256714	genome.wustl.edu	37	X	20028956	20028956	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:20028956G>A	ENST00000379651.3	-	15	2182	c.2164C>T	c.(2164-2166)Cct>Tct	p.P722S	MAP7D2_ENST00000543767.1_Missense_Mutation_p.P607S|MAP7D2_ENST00000452324.3_Missense_Mutation_p.P670S|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P763S|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P677S	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	722					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.P722S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCTTGGCCAGGACTGTTAAAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											126	120	122					X																	20028956		2203	4300	6503	19938877	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.2164C>T	X.37:g.20028956G>A	ENSP00000368972:p.Pro722Ser		19938877	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543956	0.86022	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.34072	1.69;1.75;1.7;1.38;1.73	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	T	0.59824	0.2222	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.995	D;D;D;D;D	0.97110	0.993;0.997;0.997;1.0;0.968	T	0.62817	-0.6774	10	0.72032	D	0.01	-12.6583	18.3321	0.90272	0.0:0.0:1.0:0.0	.	677;670;763;722;607	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	S	722;763;607;677;405;670	ENSP00000368972:P722S;ENSP00000368964:P763S;ENSP00000440691:P607S;ENSP00000388239:P677S;ENSP00000413301:P670S	ENSP00000368964:P763S	P	-	1	0	MAP7D2	19938877	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.421000	0.66447	2.268000	0.75426	0.525000	0.51046	CCT		0.403	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		A	20028956	G	A	20028956	3	1	94	1	0	0	0	0	1	0	0	0	9268	1174	41	2	38	2	MAP7D2	23	20028956	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	8247050	20028956	135241604	156	5035											
KLHL15	80311	genome.wustl.edu	37	X	24006144	24006144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:24006144C>T	ENST00000328046.8	-	4	1964	c.1709G>A	c.(1708-1710)tGg>tAg	p.W570*		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	570					protein ubiquitination (GO:0016567)			p.W570*(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATCTTCCTTCCACTTGTTTTC	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	X											153	127	136					X																	24006144		2203	4300	6503	23916065	SO:0001587	stop_gained	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1709G>A	X.37:g.24006144C>T	ENSP00000332791:p.Trp570*		23916065	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Nonsense_Mutation	SNP	ENST00000328046.8	37	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	39	7.551050	0.98352	.	.	ENSG00000174010	ENST00000328046	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	.	.	.	X	570	.	ENSP00000332791:W570X	W	-	2	0	KLHL15	23916065	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.494000	0.84150	0.506000	0.49869	TGG		0.463	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		T	24006144	C	T	24006144	4	4	94	1	0	0	0	0	0	1	0	0	8371	595	21	2	109	2	KLHL15	23	24006144	Nonsense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	3977188	24006144	131264416	157	5036											
CCNB3	85417	genome.wustl.edu	37	X	50053209	50053209	+	Silent	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:50053209T>A	ENST00000376042.1	+	6	2338	c.2040T>A	c.(2038-2040)gtT>gtA	p.V680V	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.V680V|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	680					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.V680V(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CATTGCATGTTAAGCATACCA	0.473																																																2	Substitution - coding silent(2)	ovary(2)	X											34	29	31					X																	50053209		2203	4300	6503	50069949	SO:0001819	synonymous_variant	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2040T>A	X.37:g.50053209T>A			50069949	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	CCDS14331.1																																																																																				0.473	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			A	50053209	T	A	50053209	2	1	94	1	0	0	0	0	0	0	0	1	2914	1741	61	5		5	CCNB3	23	50053209	Silent	SNP	T	TCGA-13-0885-01A-02W-0421-09	26047065	50053209	105217351	158	5037											
HUWE1	10075	genome.wustl.edu	37	X	53577911	53577911	+	Silent	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:53577911C>G	ENST00000342160.3	-	64	9793	c.9336G>C	c.(9334-9336)ctG>ctC	p.L3112L	HUWE1_ENST00000262854.6_Silent_p.L3112L|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3112					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L3002L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTGCCCAAACAGACGCTCAT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	X											61	44	50					X																	53577911		2203	4300	6503	53594636	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9336G>C	X.37:g.53577911C>G			53594636	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	9.096	1.002917	0.19121	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.75	-3.49	0.04724	.	.	.	.	.	T	0.41858	0.1177	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32161	-0.9917	4	.	.	.	.	4.2864	0.10857	0.2521:0.4445:0.2167:0.0867	.	.	.	.	L	2146	.	.	V	-	1	0	HUWE1	53594636	0.471000	0.25862	0.958000	0.39756	0.996000	0.88848	-0.354000	0.07681	-0.842000	0.04195	0.513000	0.50165	GTT		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		G	53577911	C	G	53577911	2	3	94	1	0	0	0	0	0	0	0	1	7461	465	17	3		3	HUWE1	23	53577911	Silent	SNP	C	TCGA-13-0885-01A-02W-0421-09	3524702	53577911	101692649	159	5038											
WNK3	65267	genome.wustl.edu	37	X	54319581	54319581	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:54319581G>C	ENST00000375159.2	-	8	1872	c.1873C>G	c.(1873-1875)Cag>Gag	p.Q625E	WNK3_ENST00000375169.3_Missense_Mutation_p.Q625E|WNK3_ENST00000354646.2_Missense_Mutation_p.Q625E			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	625					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q625E(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAAACTTGCTGGTAATGTCCT	0.348																																																1	Substitution - Missense(1)	ovary(1)	X											58	50	53					X																	54319581		2202	4299	6501	54336306	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1873C>G	X.37:g.54319581G>C	ENSP00000364301:p.Gln625Glu		54336306	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302647	0.60195	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.49139	0.79;0.79;0.79	5.81	4.95	0.65309	.	0.308515	0.24705	N	0.036266	T	0.46347	0.1388	L	0.32530	0.975	0.30303	N	0.789237	P;D	0.61697	0.802;0.99	B;P	0.52909	0.33;0.713	T	0.43048	-0.9415	10	0.21014	T	0.42	0.8651	12.6775	0.56903	0.0825:0.0:0.9175:0.0	.	625;625	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	E	625	ENSP00000364312:Q625E;ENSP00000346667:Q625E;ENSP00000364301:Q625E	ENSP00000346667:Q625E	Q	-	1	0	WNK3	54336306	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	2.628000	0.46477	1.212000	0.43366	0.594000	0.82650	CAG		0.348	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		C	54319581	G	C	54319581	3	2	94	1	0	0	0	0	1	0	0	0	17379	1357	47	3	3593	3	WNK3	23	54319581	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	741670	54319581	100950979	160	5039											
FGD1	2245	genome.wustl.edu	37	X	54472706	54472706	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:54472706G>C	ENST00000375135.3	-	18	3455	c.2722C>G	c.(2722-2724)Cta>Gta	p.L908V		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	908	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L908V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGTCGCTGTAGTTCCTCTGTC	0.657																																																1	Substitution - Missense(1)	ovary(1)	X											54	41	45					X																	54472706		2203	4300	6503	54489431	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2722C>G	X.37:g.54472706G>C	ENSP00000364277:p.Leu908Val		54489431	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845904	0.71603	.	.	ENSG00000102302	ENST00000375135	T	0.12361	2.69	5.79	5.79	0.91817	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.43416	D	0.000564	T	0.33498	0.0865	M	0.72353	2.195	0.45580	D	0.998524	P	0.38048	0.616	P	0.51550	0.673	T	0.01648	-1.1304	10	0.66056	D	0.02	-9.2486	17.6058	0.88037	0.0:0.0:1.0:0.0	.	908	P98174	FGD1_HUMAN	V	908	ENSP00000364277:L908V	ENSP00000364277:L908V	L	-	1	2	FGD1	54489431	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	8.852000	0.92215	2.429000	0.82318	0.513000	0.50165	CTA		0.657	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		C	54472706	G	C	54472706	3	2	94	1	0	0	0	0	1	0	0	0	5832	1020	36	3	167	3	FGD1	23	54472706	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	153125	54472706	100797854	161	5040											
BHLHB9	80823	genome.wustl.edu	37	X	102004101	102004101	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:102004101G>A	ENST00000372735.1	+	4	763	c.178G>A	c.(178-180)Gca>Aca	p.A60T	BHLHB9_ENST00000457056.1_Missense_Mutation_p.A60T|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A60T|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A60T|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A60T			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	60					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.A60T(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGATGAAGGCAGTGTCTAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											125	101	109					X																	102004101		2203	4300	6503	101890757	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.178G>A	X.37:g.102004101G>A	ENSP00000361820:p.Ala60Thr		101890757	Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506632	0.44558	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	4.42	-1.77	0.07982	.	0.442204	0.16721	N	0.202255	T	0.05823	0.0152	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.33675	-0.9859	9	.	.	.	-19.8684	0.7795	0.01038	0.254:0.1274:0.3544:0.2641	.	60	Q6PI77	BHLH9_HUMAN	T	60	ENSP00000403226:A60T;ENSP00000354675:A60T;ENSP00000405893:A60T;ENSP00000391722:A60T;ENSP00000361820:A60T	.	A	+	1	0	BHLHB9	101890757	0.144000	0.22641	0.000000	0.03702	0.826000	0.46750	0.693000	0.25497	-0.563000	0.06078	0.436000	0.28706	GCA		0.522	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		A	102004101	G	A	102004101	3	1	94	1	0	0	0	0	1	0	0	0	1420	1203	42	2	180	2	BHLHB9	23	102004101	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	47531395	102004101	53266459	162	5041											
BRS3	680	genome.wustl.edu	37	X	135572549	135572549	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:135572549C>G	ENST00000370648.3	+	2	920	c.692C>G	c.(691-693)tCt>tGt	p.S231C	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	231					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.S231C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATTCCACTCTCTATTATCTCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											86	80	82					X																	135572549		2203	4300	6503	135400215	SO:0001583	missense	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.692C>G	X.37:g.135572549C>G	ENSP00000359682:p.Ser231Cys		135400215		Missense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040976	0.55003	.	.	ENSG00000102239	ENST00000370648	T	0.38401	1.14	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.174700	0.39615	N	0.001312	T	0.53174	0.1780	L	0.46885	1.475	0.36963	D	0.893449	D	0.67145	0.996	D	0.67231	0.95	T	0.56269	-0.8007	10	0.37606	T	0.19	-13.2094	18.2761	0.90084	0.0:1.0:0.0:0.0	.	231	P32247	BRS3_HUMAN	C	231	ENSP00000359682:S231C	ENSP00000359682:S231C	S	+	2	0	BRS3	135400215	0.788000	0.28762	0.984000	0.44739	0.990000	0.78478	2.436000	0.44819	2.254000	0.74563	0.600000	0.82982	TCT		0.403	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		G	135572549	C	G	135572549	3	3	94	1	0	0	0	0	1	0	0	0	1522	913	32	3	698	3	BRS3	23	135572549	Missense_Mutation	SNP	C	TCGA-13-0885-01A-02W-0421-09	33568448	135572549	19698011	163	5042											
HTATSF1	27336	genome.wustl.edu	37	X	135579851	135579851	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:135579851G>C	ENST00000218364.4	+	1	182	c.8G>C	c.(7-9)gGc>gCc	p.G3A	HTATSF1_ENST00000535601.1_Missense_Mutation_p.G3A	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	3					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G3A(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AACATGAGCGGCACCAACTTG	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											143	132	136					X																	135579851		2203	4300	6503	135407517	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.8G>C	X.37:g.135579851G>C	ENSP00000218364:p.Gly3Ala		135407517	D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	6.683	0.494647	0.12702	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.27890	1.64;1.64	4.62	1.71	0.24356	.	0.320649	0.36066	N	0.002810	T	0.20536	0.0494	L	0.45581	1.43	0.21675	N	0.999595	B	0.30406	0.278	B	0.27887	0.084	T	0.19451	-1.0305	10	0.54805	T	0.06	-0.3891	2.3103	0.04185	0.1113:0.189:0.5014:0.1983	.	3	O43719	HTSF1_HUMAN	A	3	ENSP00000442699:G3A;ENSP00000218364:G3A	ENSP00000218364:G3A	G	+	2	0	HTATSF1	135407517	0.979000	0.34478	0.407000	0.26434	0.155000	0.21991	1.992000	0.40737	0.039000	0.15632	0.292000	0.19580	GGC		0.547	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		C	135579851	G	C	135579851	3	2	94	1	0	0	0	0	1	0	0	0	7433	1203	42	3	10	3	HTATSF1	23	135579851	Missense_Mutation	SNP	G	TCGA-13-0885-01A-02W-0421-09	7302	135579851	19690709	164	5043											
MAGEA1	4100	genome.wustl.edu	37	X	152482178	152482178	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0885-01A-02W-0421-09	TCGA-13-0885-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a530d9a9-b21e-47be-b4d8-1707b71f360a	66bc2509-0fe0-4a29-9433-b2cf5b7ea9ad	g.chrX:152482178T>A	ENST00000356661.5	-	3	1051	c.833A>T	c.(832-834)aAa>aTa	p.K278I		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	278	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.		K -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)	p.K278I(1)|p.K278T(1)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAGGACTTTCACATAGCT	0.542																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	X											136	130	132					X																	152482178		2203	4300	6503	152135372	SO:0001583	missense	4100				CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.833A>T	X.37:g.152482178T>A	ENSP00000349085:p.Lys278Ile		152135372	B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.797696	0.31777	.	.	ENSG00000198681	ENST00000356661	T	0.06371	3.31	1.28	-0.0372	0.13885	.	0.520953	0.22824	N	0.055200	T	0.25754	0.0627	H	0.95574	3.69	0.09310	N	1	D	0.56035	0.974	D	0.67231	0.95	T	0.09596	-1.0667	10	0.87932	D	0	.	3.1216	0.06393	0.0:0.2841:0.0:0.7159	.	278	P43355	MAGA1_HUMAN	I	278	ENSP00000349085:K278I	ENSP00000349085:K278I	K	-	2	0	MAGEA1	152135372	0.288000	0.24324	0.001000	0.08648	0.037000	0.13140	0.283000	0.18846	-0.062000	0.13088	0.158000	0.16466	AAA		0.542	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		A	152482178	T	A	152482178	3	1	94	1	0	0	0	0	1	0	0	0	9163	1841	64	5	100	5	MAGEA1	23	152482178	Missense_Mutation	SNP	T	TCGA-13-0885-01A-02W-0421-09	16902327	152482178	2788382	165	5044											
TNFRSF8	943	broad.mit.edu	37	1	12164533	12164533	+	Silent	SNP	T	T	C			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr1:12164533T>C	ENST00000263932.2	+	4	588	c.366T>C	c.(364-366)tgT>tgC	p.C122C	TNFRSF8_ENST00000417814.2_Silent_p.C11C	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	122					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.C122C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TCAACTCCTGTGCCCGCTGCT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	1											156	115	129					1																	12164533		2203	4300	6503	12087120	SO:0001819	synonymous_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.366T>C	1.37:g.12164533T>C			12087120	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	CCDS144.1																																																																																				0.562	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			C	12164533	T	C	12164533	2	2	95	1	0	0	0	0	0	0	0	1	16299	1702	59	4		4	TNFRSF8	1	12164533	Silent	SNP	T	TCGA-13-0886-01A-01W-0420-08		12164533	237086088	1	5045											
COL16A1	1307	broad.mit.edu	37	1	32165426	32165426	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr1:32165426G>T	ENST00000373672.3	-	4	770	c.254C>A	c.(253-255)aCc>aAc	p.T85N	COL16A1_ENST00000271069.6_Missense_Mutation_p.T85N|COL16A1_ENST00000373668.3_Missense_Mutation_p.T85N	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	85	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.T85N(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CGTGGGCTGGGTCACGGGGGC	0.602																																					Colon(143;498 1786 21362 25193 36625)											1	Substitution - Missense(1)	ovary(1)	1											55	57	57					1																	32165426		1963	4145	6108	31938013	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.254C>A	1.37:g.32165426G>T	ENSP00000362776:p.Thr85Asn		31938013	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694554	0.48202	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.42900	0.96;0.96;0.96	4.64	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.339452	0.29093	N	0.013165	T	0.43433	0.1247	L	0.32530	0.975	0.31059	N	0.71436	D;P	0.63880	0.993;0.838	P;B	0.56788	0.806;0.276	T	0.50406	-0.8832	10	0.72032	D	0.01	.	7.5107	0.27573	0.185:0.0:0.815:0.0	.	85;85	A6NCT7;Q07092	.;COGA1_HUMAN	N	85	ENSP00000362776:T85N;ENSP00000271069:T85N;ENSP00000362772:T85N	ENSP00000271069:T85N	T	-	2	0	COL16A1	31938013	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	4.193000	0.58385	2.306000	0.77630	0.561000	0.74099	ACC		0.602	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32165426	G	T	32165426	3	4	95	1	0	0	0	0	1	0	0	0	3673	1261	44	3	4832	3	COL16A1	1	32165426	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08	20000893	32165426	217085195	2	5046											
GPBP1L1	60313	broad.mit.edu	37	1	46120314	46120314	+	Silent	SNP	G	G	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr1:46120314G>A	ENST00000290795.3	-	5	1599	c.378C>T	c.(376-378)tcC>tcT	p.S126S	GPBP1L1_ENST00000355105.3_Silent_p.S126S			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	126					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S126S(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACCCTTTCCGGGAGTGGAAGC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	1											68	65	66					1																	46120314		2203	4300	6503	45892901	SO:0001819	synonymous_variant	60313				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.378C>T	1.37:g.46120314G>A			45892901	D3DQ10|Q9H751	Silent	SNP	ENST00000290795.3	37	CCDS528.1																																																																																				0.502	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		A	46120314	G	A	46120314	2	1	95	1	0	0	0	0	0	0	0	1	6596	1219	43	2		2	GPBP1L1	1	46120314	Silent	SNP	G	TCGA-13-0886-01A-01W-0420-08	13954888	46120314	203130307	3	5047											
LRRC8C	84230	broad.mit.edu	37	1	90180366	90180366	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr1:90180366C>T	ENST00000370454.4	+	3	2492	c.2237C>T	c.(2236-2238)cCg>cTg	p.P746L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	746					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P746L(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GTACTTTCACCGAAAATTGGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											71	73	72					1																	90180366		2203	4300	6503	89952954	SO:0001583	missense	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2237C>T	1.37:g.90180366C>T	ENSP00000359483:p.Pro746Leu		89952954	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918714	0.73098	.	.	ENSG00000171488	ENST00000370454	T	0.26223	1.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	M	0.66297	2.02	0.80722	D	1	D	0.64830	0.994	P	0.49502	0.613	T	0.02917	-1.1094	10	0.51188	T	0.08	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	746	Q8TDW0	LRC8C_HUMAN	L	746	ENSP00000359483:P746L	ENSP00000359483:P746L	P	+	2	0	LRRC8C	89952954	1.000000	0.71417	0.957000	0.39632	0.993000	0.82548	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	CCG		0.393	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		T	90180366	C	T	90180366	3	4	95	1	0	0	0	0	1	0	0	0	9023	652	23	1	2243	1	LRRC8C	1	90180366	Missense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08	44060052	90180366	159070255	4	5048											
TARS2	80222	broad.mit.edu	37	1	150470084	150470084	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr1:150470084C>T	ENST00000369064.3	+	10	1133	c.1099C>T	c.(1099-1101)Cac>Tac	p.H367Y	TARS2_ENST00000369054.2_Missense_Mutation_p.H237Y|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.H285Y	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	367					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.H367Y(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ACAGTCAGGGCACTGGGAGCA	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											82	72	76					1																	150470084		2203	4300	6503	148736708	SO:0001583	missense	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1099C>T	1.37:g.150470084C>T	ENSP00000358060:p.His367Tyr		148736708	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226701	0.95173	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	T;T;T	0.72835	-0.69;-0.69;-0.69	5.53	5.53	0.82687	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.999	D	0.93276	0.6656	10	0.87932	D	0	-9.0372	19.2635	0.93977	0.0:1.0:0.0:0.0	.	237;92;367	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	Y	237;367;92;92	ENSP00000358050:H237Y;ENSP00000358060:H367Y;ENSP00000358047:H92Y	ENSP00000358047:H92Y	H	+	1	0	TARS2	148736708	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.126000	0.77201	2.882000	0.98803	0.655000	0.94253	CAC		0.547	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		T	150470084	C	T	150470084	3	4	95	1	0	0	0	0	1	0	0	0	15560	710	25	2	1137	2	TARS2	1	150470084	Missense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08	60289718	150470084	98780537	5	5049											
USF1	7391	broad.mit.edu	37	1	161011479	161011479	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr1:161011479G>A	ENST00000368021.3	-	6	638	c.434C>T	c.(433-435)tCa>tTa	p.S145L	TSTD1_ENST00000368023.3_5'Flank|USF1_ENST00000368020.1_Missense_Mutation_p.S145L|TSTD1_ENST00000423014.2_5'Flank|TSTD1_ENST00000318289.10_5'Flank|USF1_ENST00000368019.1_Intron|TSTD1_ENST00000466967.1_5'Flank|F11R_ENST00000289779.3_5'Flank|TSTD1_ENST00000368024.1_5'Flank|USF1_ENST00000435396.1_Missense_Mutation_p.S86L	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	145					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.S145L(1)		central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CAGTGCCTCTGAGCCCTGGGT	0.587											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											70	67	68					1																	161011479		2203	4300	6503	159278103	SO:0001583	missense	7391			BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"Basic helix-loop-helix proteins"	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.434C>T	1.37:g.161011479G>A	ENSP00000357000:p.Ser145Leu	1813	159278103	B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	37	CCDS1214.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062307	0.55432	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000534633	D;D;D	0.93659	-3.26;-3.26;-3.24	5.02	5.02	0.67125	.	0.064073	0.64402	D	0.000004	D	0.84133	0.5405	L	0.57536	1.79	0.49213	D	0.999764	P	0.37548	0.599	B	0.32677	0.15	T	0.82554	-0.0399	10	0.11485	T	0.65	-6.253	11.5433	0.50679	0.0:0.1802:0.8198:0.0	.	145	P22415	USF1_HUMAN	L	145;145;86;86	ENSP00000356999:S145L;ENSP00000357000:S145L;ENSP00000390109:S86L	ENSP00000356999:S145L	S	-	2	0	USF1	159278103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.016000	0.64041	2.607000	0.88179	0.655000	0.94253	TCA		0.587	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		A	161011479	G	A	161011479	3	1	95	1	0	0	0	0	1	0	0	0	17032	1294	45	2	522	2	USF1	1	161011479	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08	10541395	161011479	88239142	6	5050											
AHCTF1	25909	broad.mit.edu	37	1	247025452	247025452	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr1:247025452C>A	ENST00000391829.2	-	28	3667	c.3544G>T	c.(3544-3546)Gct>Tct	p.A1182S	AHCTF1_ENST00000326225.3_Missense_Mutation_p.A1191S|AHCTF1_ENST00000366508.1_Missense_Mutation_p.A1217S|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1182	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A1182S(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAACTTTTAGCTTTCTATAGT	0.468																																					Colon(145;197 1800 4745 15099 26333)											1	Substitution - Missense(1)	ovary(1)	1											60	60	60					1																	247025452		2203	4300	6503	245092075	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3544G>T	1.37:g.247025452C>A	ENSP00000375705:p.Ala1182Ser		245092075	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	C	23.5	4.424781	0.83667	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.41400	1.0;1.01;1.01	5.64	5.64	0.86602	.	0.263447	0.37136	N	0.002239	T	0.64627	0.2615	M	0.70275	2.135	0.46798	D	0.999204	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.85130	0.961;0.997;0.923	T	0.61068	-0.7137	10	0.36615	T	0.2	-17.1586	17.8956	0.88887	0.0:1.0:0.0:0.0	.	43;1217;1182	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	S	1217;1191;1182	ENSP00000355464:A1217S;ENSP00000355465:A1191S;ENSP00000375705:A1182S	ENSP00000355465:A1191S	A	-	1	0	AHCTF1	245092075	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.385000	0.66231	2.667000	0.90743	0.650000	0.86243	GCT		0.468	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		A	247025452	C	A	247025452	3	1	95	1	0	0	0	0	1	0	0	0	408	797	28	3	3292	3	AHCTF1	1	247025452	Missense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08	86013973	247025452	2225169	7	5051											
ZNF513	130557	broad.mit.edu	37	2	27600891	27600891	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr2:27600891T>A	ENST00000323703.6	-	4	1345	c.1147A>T	c.(1147-1149)Agt>Tgt	p.S383C	ZNF513_ENST00000407879.1_Missense_Mutation_p.S321C|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	383					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.S383C(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCACCACTGTGTGTCTTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											111	128	122					2																	27600891		2203	4300	6503	27454395	SO:0001583	missense	130557			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1147A>T	2.37:g.27600891T>A	ENSP00000318373:p.Ser383Cys		27454395	A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.561977	0.45590	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.19938	2.11;2.11	5.29	5.29	0.74685	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000009	T	0.43919	0.1269	M	0.81112	2.525	0.44927	D	0.997949	P	0.51057	0.941	P	0.57152	0.814	T	0.47407	-0.9120	10	0.87932	D	0	-9.0673	14.1902	0.65633	0.0:0.0:0.0:1.0	.	383	Q8N8E2	ZN513_HUMAN	C	383;321	ENSP00000318373:S383C;ENSP00000384874:S321C	ENSP00000318373:S383C	S	-	1	0	ZNF513	27454395	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	6.106000	0.71511	2.221000	0.72209	0.533000	0.62120	AGT		0.607	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		A	27600891	T	A	27600891	3	1	95	1	0	0	0	0	1	0	0	0	17958	1580	55	5	482	5	ZNF513	2	27600891	Missense_Mutation	SNP	T	TCGA-13-0886-01A-01W-0420-08		27600891	215598482	8	5052											
GMCL1	64395	broad.mit.edu	37	2	70081984	70081984	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr2:70081984G>A	ENST00000282570.3	+	9	1215	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	322					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.E322K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCTTGAAACTGAACAAGGAAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	2											75	78	77					2																	70081984		2203	4293	6496	69935488	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.964G>A	2.37:g.70081984G>A	ENSP00000282570:p.Glu322Lys		69935488	Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552809	0.65425	.	.	ENSG00000087338	ENST00000282570	T	0.55413	0.52	4.73	4.73	0.59995	.	0.166067	0.52532	D	0.000070	T	0.47637	0.1456	L	0.47716	1.5	0.53688	D	0.999979	B	0.15930	0.015	B	0.19946	0.027	T	0.40997	-0.9533	10	0.36615	T	0.2	-7.5524	15.2376	0.73443	0.0:0.0:1.0:0.0	.	322	Q96IK5	GMCL1_HUMAN	K	322	ENSP00000282570:E322K	ENSP00000282570:E322K	E	+	1	0	GMCL1	69935488	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.752000	0.74898	2.456000	0.83038	0.555000	0.69702	GAA		0.323	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		A	70081984	G	A	70081984	3	1	95	1	0	0	0	0	1	0	0	0	6485	1291	45	2	998	2	GMCL1	2	70081984	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08	42481093	70081984	173117389	9	5053											
TTLL4	9654	broad.mit.edu	37	2	219616467	219616467	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr2:219616467G>A	ENST00000392102.1	+	16	3254	c.2914G>A	c.(2914-2916)Gag>Aag	p.E972K	TTLL4_ENST00000457313.1_Missense_Mutation_p.E807K|TTLL4_ENST00000442769.1_Missense_Mutation_p.E908K|TTLL4_ENST00000258398.4_Missense_Mutation_p.E972K	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	972					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.E972K(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AATGGCTCCAGAGCATGTCAC	0.512																																					GBM(172;1818 2053 15407 20943 49753)											1	Substitution - Missense(1)	ovary(1)	2											89	78	81					2																	219616467		2203	4300	6503	219324711	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2914G>A	2.37:g.219616467G>A	ENSP00000375951:p.Glu972Lys		219324711	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.62|17.62	3.434802|3.434802	0.62955|0.62955	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398|ENST00000436668	T;T;T;T|.	0.04015|.	3.86;4.1;3.73;4.1|.	5.28|5.28	4.4|4.4	0.53042|0.53042	.|.	0.550750|.	0.16042|.	N|.	0.232395|.	T|T	0.72534|0.72534	0.3472|0.3472	M|M	0.70595|0.70595	2.14|2.14	0.50313|0.50313	D|D	0.999868|0.999868	B;P;P;B|.	0.49961|.	0.046;0.722;0.93;0.138|.	B;B;P;B|.	0.44422|.	0.028;0.118;0.449;0.065|.	T|T	0.73225|0.73225	-0.4050|-0.4050	10|5	0.36615|.	T|.	0.2|.	.|.	14.7331|14.7331	0.69397|0.69397	0.0:0.1583:0.8417:0.0|0.0:0.1583:0.8417:0.0	.|.	175;807;908;972|.	B4DJF5;E9PH58;E7EX20;Q14679|.	.;.;.;TTLL4_HUMAN|.	K|K	807;972;908;972|116	ENSP00000393332:E807K;ENSP00000375951:E972K;ENSP00000396555:E908K;ENSP00000258398:E972K|.	ENSP00000258398:E972K|.	E|R	+|+	1|2	0|0	TTLL4|TTLL4	219324711|219324711	1.000000|1.000000	0.71417|0.71417	0.209000|0.209000	0.23619|0.23619	0.988000|0.988000	0.76386|0.76386	5.023000|5.023000	0.64084|0.64084	1.427000|1.427000	0.47276|0.47276	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.512	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		A	219616467	G	A	219616467	3	1	95	1	0	0	0	0	1	0	0	0	16729	943	33	2	2968	2	TTLL4	2	219616467	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08	149534483	219616467	23582906	10	5054											
BANK1	55024	broad.mit.edu	37	4	102750969	102750969	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr4:102750969T>G	ENST00000322953.4	+	2	349	c.75T>G	c.(73-75)aaT>aaG	p.N25K	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_De_novo_Start_OutOfFrame|BANK1_ENST00000504592.1_Missense_Mutation_p.N10K	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	25	Interaction with ITPR2.				B cell activation (GO:0042113)			p.N25K(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TTCCAGGAAATACAAAAGATA	0.294																																																1	Substitution - Missense(1)	ovary(1)	4											25	26	26					4																	102750969		2133	4272	6405	102969992	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.75T>G	4.37:g.102750969T>G	ENSP00000320509:p.Asn25Lys		102969992	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.518672	0.27211	.	.	ENSG00000153064	ENST00000504592;ENST00000322953	T;T	0.20069	2.1;2.1	5.18	-1.73	0.08081	.	0.231631	0.29646	N	0.011571	T	0.14917	0.0360	L	0.48642	1.525	0.09310	N	1	B;B	0.25904	0.137;0.069	B;B	0.26310	0.068;0.055	T	0.14924	-1.0455	10	0.56958	D	0.05	.	5.8587	0.18734	0.1395:0.4526:0.0:0.4078	.	25;10	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	K	10;25	ENSP00000421443:N10K;ENSP00000320509:N25K	ENSP00000320509:N25K	N	+	3	2	BANK1	102969992	0.003000	0.15002	0.005000	0.12908	0.751000	0.42716	-0.176000	0.09811	-0.240000	0.09696	0.528000	0.53228	AAT		0.294	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		G	102750969	T	G	102750969	3	3	95	1	0	0	0	0	1	0	0	0	1309	1403	49	5	81	5	BANK1	4	102750969	Missense_Mutation	SNP	T	TCGA-13-0886-01A-01W-0420-08		102750969	88403307	11	5055											
GZMA	3001	broad.mit.edu	37	5	54401388	54401388	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr5:54401388A>T	ENST00000274306.6	+	2	192	c.157A>T	c.(157-159)Atc>Ttc	p.I53F		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	53	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.I53F(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CAGAAAAACCATCTGTGCTGG	0.388																																																1	Substitution - Missense(1)	ovary(1)	5											104	96	99					5																	54401388		2203	4300	6503	54437145	SO:0001583	missense	3001				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"CTL tryptase", "Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.157A>T	5.37:g.54401388A>T	ENSP00000274306:p.Ile53Phe		54437145	A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800073	0.31869	.	.	ENSG00000145649	ENST00000274306	D	0.87887	-2.31	4.85	-1.04	0.10068	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.670897	0.15293	N	0.270043	T	0.67021	0.2849	N	0.17764	0.52	0.26558	N	0.973797	B	0.23377	0.084	B	0.21917	0.037	T	0.55547	-0.8124	10	0.02654	T	1	.	1.3281	0.02129	0.5106:0.1182:0.1416:0.2296	.	53	P12544	GRAA_HUMAN	F	53	ENSP00000274306:I53F	ENSP00000274306:I53F	I	+	1	0	GZMA	54437145	0.000000	0.05858	0.063000	0.19743	0.499000	0.33736	-0.761000	0.04751	-0.004000	0.14419	0.533000	0.62120	ATC		0.388	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		T	54401388	A	T	54401388	3	4	95	1	0	0	0	0	1	0	0	0	6915	217	8	5	163	5	GZMA	5	54401388	Missense_Mutation	SNP	A	TCGA-13-0886-01A-01W-0420-08		54401388	126513872	12	5056											
PCDH1	5097	broad.mit.edu	37	5	141248323	141248323	+	Silent	SNP	C	C	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr5:141248323C>T	ENST00000394536.3	-	2	853	c.714G>A	c.(712-714)ctG>ctA	p.L238L	PCDH1_ENST00000536585.1_Silent_p.L216L|PCDH1_ENST00000287008.3_Silent_p.L238L|PCDH1_ENST00000503492.1_Silent_p.L238L|PCDH1_ENST00000456271.1_Silent_p.L226L|PCDH1_ENST00000511044.1_5'Flank	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L238L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCTCACGGTCCAGGTTGCCCA	0.637																																					Ovarian(132;1609 1739 4190 14731 45037)											1	Substitution - coding silent(1)	ovary(1)	5											92	82	85					5																	141248323		2203	4300	6503	141228507	SO:0001819	synonymous_variant	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.714G>A	5.37:g.141248323C>T			141228507	Q8IUP2	Silent	SNP	ENST00000394536.3	37	CCDS43375.1																																																																																				0.637	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		T	141248323	C	T	141248323	2	4	95	1	0	0	0	0	0	0	0	1	11506	581	21	2		2	PCDH1	5	141248323	Silent	SNP	C	TCGA-13-0886-01A-01W-0420-08	86846935	141248323	39666937	13	5057											
ADAM19	8728	broad.mit.edu	37	5	156917401	156917401	+	Silent	SNP	C	C	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr5:156917401C>A	ENST00000517905.1	-	19	2201	c.2157G>T	c.(2155-2157)ctG>ctT	p.L719L	ADAM19_ENST00000430702.2_Silent_p.L452L|ADAM19_ENST00000257527.4_Silent_p.L719L|ADAM19_ENST00000394020.1_Silent_p.L721L			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	719					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L720L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTAGTACATCAGCATGAGGA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	5											202	178	186					5																	156917401		2203	4300	6503	156849979	SO:0001819	synonymous_variant	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2157G>T	5.37:g.156917401C>A			156849979	Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37		.	.	.	.	.	.	.	.	.	.	C	6.891	0.533826	0.13188	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.41	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1687	0.37067	0.0:0.8211:0.0:0.1789	.	.	.	.	L	290	.	.	X	-	2	2	ADAM19	156849979	0.788000	0.28762	0.786000	0.31890	0.094000	0.18550	1.054000	0.30455	1.256000	0.44068	0.655000	0.94253	TGA		0.522	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		A	156917401	C	A	156917401	2	1	95	1	0	0	0	0	0	0	0	1	240	813	29	3		3	ADAM19	5	156917401	Silent	SNP	C	TCGA-13-0886-01A-01W-0420-08	15669078	156917401	23997859	14	5058											
STK10	6793	broad.mit.edu	37	5	171520431	171520431	+	Silent	SNP	G	G	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr5:171520431G>T	ENST00000176763.5	-	9	1882	c.1539C>A	c.(1537-1539)ggC>ggA	p.G513G	STK10_ENST00000517775.1_5'UTR	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	513					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.G513G(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGACAGAGAGCCCATCTCTT	0.527																																																1	Substitution - coding silent(1)	ovary(1)	5											78	78	78					5																	171520431		2203	4300	6503	171453036	SO:0001819	synonymous_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1539C>A	5.37:g.171520431G>T			171453036	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	CCDS34290.1																																																																																				0.527	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		T	171520431	G	T	171520431	2	4	95	1	0	0	0	0	0	0	0	1	15288	958	34	3		3	STK10	5	171520431	Silent	SNP	G	TCGA-13-0886-01A-01W-0420-08	14603030	171520431	9394829	15	5059											
C5orf25	375484	broad.mit.edu	37	5	175740768	175740768	+	Silent	SNP	C	C	G			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr5:175740768C>G	ENST00000443967.1	+	7	2159	c.1752C>G	c.(1750-1752)acC>acG	p.T584T	SIMC1_ENST00000430704.2_Silent_p.T169T|SIMC1_ENST00000332772.4_Silent_p.T45T|SIMC1_ENST00000341199.6_Silent_p.T169T			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	584							SUMO polymer binding (GO:0032184)	p.T584T(1)									TTCAGCAGACCCTGAGGAGGC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	5											165	166	166					5																	175740768		2203	4300	6503	175673374	SO:0001819	synonymous_variant	375484			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1752C>G	5.37:g.175740768C>G			175673374	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37																																																																																					0.532	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		G	175740768	C	G	175740768	2	3	95	1	0	0	0	0	0	0	0	1	2288	610	22	3		3	C5orf25	5	175740768	Silent	SNP	C	TCGA-13-0886-01A-01W-0420-08	4220337	175740768	5174492	16	5060											
SLC17A1	6568	broad.mit.edu	37	6	25826832	25826832	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr6:25826832A>T	ENST00000244527.4	-	3	179	c.64T>A	c.(64-66)Ttg>Atg	p.L22M	SLC17A1_ENST00000476801.1_Missense_Mutation_p.L22M|SLC17A1_ENST00000427328.1_Missense_Mutation_p.L22M|SLC17A1_ENST00000468082.1_Missense_Mutation_p.L22M	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	22					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.L22M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGGAAAGACAATCCATAGCGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	6											109	90	97					6																	25826832		2203	4300	6503	25934811	SO:0001583	missense	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.64T>A	6.37:g.25826832A>T	ENSP00000244527:p.Leu22Met		25934811	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019235	0.35606	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	3.29	-6.58	0.01836	Major facilitator superfamily domain, general substrate transporter (1);	0.296096	0.17860	N	0.159566	T	0.46756	0.1409	M	0.86502	2.82	0.09310	N	1	D;D	0.60160	0.987;0.978	P;P	0.53224	0.721;0.701	T	0.54918	-0.8221	10	0.44086	T	0.13	.	7.3535	0.26706	0.177:0.0:0.5472:0.2759	.	22;22	Q14916-2;Q14916	.;NPT1_HUMAN	M	22	ENSP00000244527:L22M;ENSP00000410549:L22M;ENSP00000420614:L22M;ENSP00000420546:L22M	ENSP00000244527:L22M	L	-	1	2	SLC17A1	25934811	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-3.297000	0.00522	-2.147000	0.00799	-1.127000	0.01993	TTG		0.418	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			T	25826832	A	T	25826832	3	4	95	1	0	0	0	0	1	0	0	0	14419	98	4	5	1379	5	SLC17A1	6	25826832	Missense_Mutation	SNP	A	TCGA-13-0886-01A-01W-0420-08		25826832	145288235	17	5061											
SCAND3	114821	broad.mit.edu	37	6	28554487	28554487	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr6:28554487G>A	ENST00000452236.2	-	1	625	c.8C>T	c.(7-9)gCa>gTa	p.A3V	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1												p.A3V(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCTAGAGACTGCTTCCATCCC	0.488																																																1	Substitution - Missense(1)	ovary(1)	6											65	61	63					6																	28554487		2203	4300	6503	28662466	SO:0001583	missense	114821																														ENST00000452236.2:c.8C>T	6.37:g.28554487G>A	ENSP00000395259:p.Ala3Val		28662466		Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490899	0.26774	.	.	ENSG00000232040	ENST00000452236	T	0.01572	4.76	3.37	2.5	0.30297	.	.	.	.	.	T	0.00524	0.0017	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45716	-0.9242	9	0.30854	T	0.27	.	7.1863	0.25801	0.1323:0.0:0.8677:0.0	.	3	Q6R2W3	SCND3_HUMAN	V	3	ENSP00000395259:A3V	ENSP00000395259:A3V	A	-	2	0	SCAND3	28662466	0.001000	0.12720	0.036000	0.18154	0.106000	0.19336	0.840000	0.27600	0.716000	0.32124	0.563000	0.77884	GCA		0.488	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			A	28554487	G	A	28554487	3	1	95	1	0	0	0	0	1	0	0	0	13879	1319	46	2	3985	2	SCAND3	6	28554487	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08	2727655	28554487	142560580	18	5062											
UNC5CL	222643	broad.mit.edu	37	6	41002717	41002717	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr6:41002717A>G	ENST00000373164.1	-	1	157	c.97T>C	c.(97-99)Tgg>Cgg	p.W33R	UNC5CL_ENST00000244565.3_Missense_Mutation_p.W33R|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	33					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.W33R(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGCAGTGCCATCGAAGGCAT	0.587																																																1	Substitution - Missense(1)	ovary(1)	6											65	60	62					6																	41002717		2203	4300	6503	41110695	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.97T>C	6.37:g.41002717A>G	ENSP00000362258:p.Trp33Arg		41110695	Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403208	0.62288	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.18016	2.24;2.24	4.49	4.49	0.54785	.	0.000000	0.45126	D	0.000393	T	0.07999	0.0200	L	0.29908	0.895	0.80722	D	1	P	0.50943	0.94	P	0.44860	0.462	T	0.05225	-1.0898	10	0.87932	D	0	-15.1531	10.1002	0.42499	1.0:0.0:0.0:0.0	.	33	Q8IV45	UN5CL_HUMAN	R	33	ENSP00000244565:W33R;ENSP00000362258:W33R	ENSP00000244565:W33R	W	-	1	0	UNC5CL	41110695	0.965000	0.33210	0.990000	0.47175	0.965000	0.64279	2.824000	0.48088	1.898000	0.54952	0.460000	0.39030	TGG		0.587	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		G	41002717	A	G	41002717	3	3	95	1	0	0	0	0	1	0	0	0	16994	217	8	4	1491	4	UNC5CL	6	41002717	Missense_Mutation	SNP	A	TCGA-13-0886-01A-01W-0420-08	12448230	41002717	130112350	19	5063											
TTBK1	84630	broad.mit.edu	37	6	43230673	43230673	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr6:43230673G>A	ENST00000259750.4	+	13	1654	c.1571G>A	c.(1570-1572)aGc>aAc	p.S524N	TTBK1_ENST00000304139.5_Missense_Mutation_p.S473N	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	524					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S524N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGGCCCTGAGCAACGCCTTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	6											77	59	65					6																	43230673		2203	4300	6503	43338651	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1571G>A	6.37:g.43230673G>A	ENSP00000259750:p.Ser524Asn		43338651	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019264	0.75275	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.68765	-0.35	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	L	0.40543	1.245	0.47994	D	0.999566	D;P	0.61080	0.989;0.682	D;B	0.72982	0.979;0.188	T	0.73471	-0.3972	10	0.66056	D	0.02	.	16.0488	0.80740	0.0:0.0:1.0:0.0	.	47;524	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	N	473;524;473	ENSP00000259750:S524N	ENSP00000259750:S524N	S	+	2	0	TTBK1	43338651	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.496000	0.97967	2.532000	0.85374	0.484000	0.47621	AGC		0.622	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			A	43230673	G	A	43230673	3	1	95	1	0	0	0	0	1	0	0	0	16676	971	34	2	1617	2	TTBK1	6	43230673	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08	2227956	43230673	127884394	20	5064											
DST	667	broad.mit.edu	37	6	56497759	56497759	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr6:56497759T>C	ENST00000361203.3	-	24	3072	c.3065A>G	c.(3064-3066)gAt>gGt	p.D1022G	DST_ENST00000312431.6_Missense_Mutation_p.D1022G|DST_ENST00000370765.6_Missense_Mutation_p.D696G|DST_ENST00000370788.2_Missense_Mutation_p.D1022G|DST_ENST00000370769.4_Missense_Mutation_p.D1022G|DST_ENST00000244364.6_Missense_Mutation_p.D696G|DST_ENST00000370754.5_Missense_Mutation_p.D1200G|DST_ENST00000446842.2_Missense_Mutation_p.D696G|DST_ENST00000518935.1_Missense_Mutation_p.D696G|DST_ENST00000421834.2_Missense_Mutation_p.D1022G			Q03001	DYST_HUMAN	dystonin	1022					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.D696G(1)|p.D1022G(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCCTGGCTATCTTCCAGAAA	0.368																																																2	Substitution - Missense(2)	ovary(2)	6											114	111	112					6																	56497759		2203	4300	6503	56605718	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3065A>G	6.37:g.56497759T>C	ENSP00000354508:p.Asp1022Gly		56605718	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	22.9	4.356114	0.82243	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000028	T	0.58380	0.2118	M	0.84683	2.71	0.34405	D	0.695705	D;D;D;P;D;D;D;B	0.76494	0.966;0.997;0.966;0.901;0.992;0.999;0.966;0.038	P;D;P;P;D;D;P;B	0.78314	0.505;0.989;0.505;0.49;0.953;0.991;0.505;0.054	T	0.66582	-0.5887	9	0.72032	D	0.01	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	1022;1022;1200;696;696;696;1022;696	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	G	696;1200;1022;1022;696;1022;1022;1022;696;1062;696;696	ENSP00000244364:D696G;ENSP00000359790:D1200G;ENSP00000359805:D1022G;ENSP00000400883:D1022G;ENSP00000393645:D696G;ENSP00000307959:D1022G;ENSP00000359824:D1022G;ENSP00000354508:D1022G;ENSP00000404924:D696G;ENSP00000431030:D1062G;ENSP00000359801:D696G;ENSP00000431003:D696G	ENSP00000244364:D696G	D	-	2	0	DST	56605718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.880000	0.69698	2.308000	0.77769	0.533000	0.62120	GAT		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		C	56497759	T	C	56497759	3	2	95	1	0	0	0	0	1	0	0	0	4783	1435	50	4	18352	4	DST	6	56497759	Missense_Mutation	SNP	T	TCGA-13-0886-01A-01W-0420-08	13267086	56497759	114617308	21	5065											
L3MBTL3	84456	broad.mit.edu	37	6	130389525	130389525	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr6:130389525G>T	ENST00000529410.1	+	14	1530	c.1051G>T	c.(1051-1053)Gct>Tct	p.A351S	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.A351S|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.A326S|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.A351S|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.A326S|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.A326S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	351					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A351S(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GACATGTAAAGCTCAAGCTGC	0.323																																																1	Substitution - Missense(1)	ovary(1)	6											108	110	109					6																	130389525		2203	4298	6501	130431218	SO:0001583	missense	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1051G>T	6.37:g.130389525G>T	ENSP00000431962:p.Ala351Ser		130431218	Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909100	0.72868	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.84	4.97	0.65823	.	0.165145	0.53938	D	0.000042	D	0.87815	0.6272	L	0.42487	1.325	0.41767	D	0.989744	B;B	0.27380	0.177;0.145	B;P	0.46275	0.25;0.51	D	0.85123	0.0970	10	0.26408	T	0.33	.	14.9191	0.70822	0.0685:0.0:0.9315:0.0	.	326;351	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	S	351;326;351;326;326;351	ENSP00000431962:A351S;ENSP00000437185:A326S;ENSP00000354526:A351S;ENSP00000357121:A326S;ENSP00000436706:A326S;ENSP00000357118:A351S	ENSP00000354526:A351S	A	+	1	0	L3MBTL3	130431218	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.769000	0.85360	1.479000	0.48272	0.557000	0.71058	GCT		0.323	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		T	130389525	G	T	130389525	3	4	95	1	0	0	0	0	1	0	0	0	8593	971	34	3	1089	3	L3MBTL3	6	130389525	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08	73891766	130389525	40725542	22	5066											
ISPD	729920	broad.mit.edu	37	7	16445915	16445915	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr7:16445915A>C	ENST00000407010.2	-	2	304	c.305T>G	c.(304-306)aTg>aGg	p.M102R	ISPD_ENST00000399310.3_Missense_Mutation_p.M102R	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	102					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)	p.M102R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CATTACTTCCATGTTCTCTCC	0.363										Multiple Myeloma(15;0.18)																																						1	Substitution - Missense(1)	ovary(1)	7											105	101	102					7																	16445915		1916	4132	6048	16412440	SO:0001583	missense	729920			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.305T>G	7.37:g.16445915A>C	ENSP00000385478:p.Met102Arg		16412440	A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37		.	.	.	.	.	.	.	.	.	.	A	12.80	2.046756	0.36085	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.85484	-1.99;-1.99	5.69	3.28	0.37604	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.529823	0.18170	U	0.149494	T	0.77948	0.4207	N	0.11284	0.12	0.28518	N	0.913209	P	0.52170	0.951	P	0.53861	0.736	T	0.69595	-0.5103	10	0.32370	T	0.25	-11.0741	8.2964	0.31988	0.7974:0.1339:0.0688:0.0	.	102	A4D126	ISPD_HUMAN	R	102	ENSP00000385478:M102R;ENSP00000382249:M102R	ENSP00000382249:M102R	M	-	2	0	ISPD	16412440	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	3.257000	0.51500	0.415000	0.25817	0.460000	0.39030	ATG		0.363	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		C	16445915	A	C	16445915	3	2	95	1	0	0	0	0	1	0	0	0	7864	217	8	5	1086	5	ISPD	7	16445915	Missense_Mutation	SNP	A	TCGA-13-0886-01A-01W-0420-08		16445915	142692748	23	5067											
CPA2	1358	broad.mit.edu	37	7	129929521	129929521	+	Silent	SNP	C	C	G			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr7:129929521C>G	ENST00000222481.4	+	11	1249	c.1194C>G	c.(1192-1194)ccC>ccG	p.P398P		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	398					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.P396P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AGATCCTGCCCACAGCCGAGG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	7											110	103	105					7																	129929521		2203	4300	6503	129716757	SO:0001819	synonymous_variant	1358			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1194C>G	7.37:g.129929521C>G			129716757	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	CCDS5817.2																																																																																				0.527	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		G	129929521	C	G	129929521	2	3	95	1	0	0	0	0	0	0	0	1	3790	581	21	3		3	CPA2	7	129929521	Silent	SNP	C	TCGA-13-0886-01A-01W-0420-08	113483606	129929521	29209142	24	5068											
FBXO16	157574	broad.mit.edu	37	8	28314347	28314347	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr8:28314347T>A	ENST00000380254.2	-	5	591	c.443A>T	c.(442-444)gAg>gTg	p.E148V	RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000518734.1_Missense_Mutation_p.E136V|FBXO16_ENST00000346498.2_Missense_Mutation_p.E136V|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000517436.1_5'UTR	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	148								p.E148V(1)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GATCCCCTGCTCAAAGGGAGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	8											125	121	122					8																	28314347		2203	4300	6503	28370266	SO:0001583	missense	157574			AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.443A>T	8.37:g.28314347T>A	ENSP00000369604:p.Glu148Val		28370266	Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723223	0.89298	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.56275	0.47;0.47;0.47	5.93	5.93	0.95920	F-box domain, Skp2-like (1);	0.000000	0.85682	U	0.000000	T	0.72087	0.3417	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.75181	-0.3408	10	0.87932	D	0	-11.1604	15.5755	0.76380	0.0:0.0:0.0:1.0	.	136;136;148	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	V	148;136;136	ENSP00000369604:E148V;ENSP00000341416:E136V;ENSP00000429687:E136V	ENSP00000341416:E136V	E	-	2	0	FBXO16	28370266	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.712000	0.84684	2.281000	0.76405	0.533000	0.62120	GAG		0.433	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		A	28314347	T	A	28314347	3	1	95	1	0	0	0	0	1	0	0	0	5729	1551	54	5	455	5	FBXO16	8	28314347	Missense_Mutation	SNP	T	TCGA-13-0886-01A-01W-0420-08		28314347	118049675	25	5069											
DFNB31	25861	broad.mit.edu	37	9	117186763	117186763	+	Missense_Mutation	SNP	G	G	C	rs397517255		TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr9:117186763G>C	ENST00000362057.3	-	6	1435	c.1267C>G	c.(1267-1269)Cga>Gga	p.R423G	DFNB31_ENST00000374059.3_Missense_Mutation_p.R72G|DFNB31_ENST00000265134.6_Missense_Mutation_p.R40G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	423			R -> P (in dbSNP:rs35003670).		inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.R423G(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCAGCACTCGTGTCTGGTTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	9											45	36	39					9																	117186763		2203	4300	6503	116226584	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1267C>G	9.37:g.117186763G>C	ENSP00000354623:p.Arg423Gly		116226584	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948964	0.53186	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.09630	3.87;3.85;2.96	5.79	5.79	0.91817	.	0.183563	0.48286	D	0.000195	T	0.35219	0.0924	M	0.73598	2.24	0.80722	D	1	D;P;D	0.71674	0.977;0.95;0.998	P;P;D	0.68483	0.632;0.632;0.958	T	0.00936	-1.1508	10	0.45353	T	0.12	-9.8188	20.0407	0.97588	0.0:0.0:1.0:0.0	.	423;423;72	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	G	40;72;423	ENSP00000265134:R40G;ENSP00000363172:R72G;ENSP00000354623:R423G	ENSP00000265134:R40G	R	-	1	2	DFNB31	116226584	1.000000	0.71417	0.063000	0.19743	0.919000	0.55068	4.628000	0.61282	2.746000	0.94184	0.561000	0.74099	CGA		0.592	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		C	117186763	G	C	117186763	3	2	95	1	0	0	0	0	1	0	0	0	4455	1153	40	3	1484	3	DFNB31	9	117186763	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08		117186763	24026668	26	5070											
NLRP14	338323	broad.mit.edu	37	11	7064450	7064450	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr11:7064450C>A	ENST00000299481.4	+	4	1539	c.1193C>A	c.(1192-1194)gCt>gAt	p.A398D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	398	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.A398D(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACAACCACAGCTCTGTTTACC	0.512																																																1	Substitution - Missense(1)	ovary(1)	11											156	149	151					11																	7064450		2201	4296	6497	7021026	SO:0001583	missense	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1193C>A	11.37:g.7064450C>A	ENSP00000299481:p.Ala398Asp		7021026	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480108	0.26598	.	.	ENSG00000158077	ENST00000299481	D	0.83914	-1.78	4.48	2.49	0.30216	.	0.800697	0.10952	N	0.615956	T	0.75004	0.3791	N	0.20530	0.585	0.18873	N	0.999987	D	0.54047	0.964	P	0.47981	0.563	T	0.64110	-0.6484	10	0.72032	D	0.01	.	7.1881	0.25811	0.3463:0.4852:0.1684:0.0	.	398	Q86W24	NAL14_HUMAN	D	398	ENSP00000299481:A398D	ENSP00000299481:A398D	A	+	2	0	NLRP14	7021026	0.014000	0.17966	0.031000	0.17742	0.898000	0.52572	0.337000	0.19841	0.567000	0.29293	0.655000	0.94253	GCT		0.512	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		A	7064450	C	A	7064450	3	1	95	1	0	0	0	0	1	0	0	0	10476	797	28	3	1203	3	NLRP14	11	7064450	Missense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08		7064450	127942066	27	5071											
EIF3M	10480	broad.mit.edu	37	11	32608572	32608572	+	Silent	SNP	T	T	G			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr11:32608572T>G	ENST00000531120.1	+	2	120	c.57T>G	c.(55-57)cgT>cgG	p.R19R	EIF3M_ENST00000524896.1_Intron|EIF3M_ENST00000532054.1_3'UTR	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M									p.R19R(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					CTGAGCTTCGTGCTTATCTGA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	11											127	133	131					11																	32608572		2202	4299	6501	32565148	SO:0001819	synonymous_variant	10480			AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"transport and golgi organization 7 homolog (Drosophila)"	609641	"PCI domain containing 1 (herpesvirus entry mediator)"	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.57T>G	11.37:g.32608572T>G			32565148		Silent	SNP	ENST00000531120.1	37	CCDS7880.1																																																																																				0.393	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		G	32608572	T	G	32608572	2	3	95	1	0	0	0	0	0	0	0	1	5023	1683	59	5		5	EIF3M	11	32608572	Silent	SNP	T	TCGA-13-0886-01A-01W-0420-08	25544122	32608572	102397944	28	5072											
OR4B1	119765	broad.mit.edu	37	11	48239032	48239032	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr11:48239032G>C	ENST00000309562.2	+	1	689	c.671G>C	c.(670-672)aGg>aCg	p.R224T		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R224T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTCAACTTGAGGAACCATTCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	11											144	112	123					11																	48239032		2201	4298	6499	48195608	SO:0001583	missense	119765			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.671G>C	11.37:g.48239032G>C	ENSP00000311605:p.Arg224Thr		48195608	Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762777	0.31228	.	.	ENSG00000175619	ENST00000309562	T	0.00241	8.46	5.5	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.00468	0.0015	M	0.84326	2.69	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38542	-0.9656	10	0.87932	D	0	.	5.259	0.15563	0.1774:0.1693:0.6533:0.0	.	224	Q8NGF8	OR4B1_HUMAN	T	224	ENSP00000311605:R224T	ENSP00000311605:R224T	R	+	2	0	OR4B1	48195608	0.003000	0.15002	0.973000	0.42090	0.326000	0.28443	0.167000	0.16602	1.339000	0.45563	-0.369000	0.07265	AGG		0.468	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		C	48239032	G	C	48239032	3	2	95	1	0	0	0	0	1	0	0	0	11044	1000	35	3	673	3	OR4B1	11	48239032	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08	15630460	48239032	86767484	29	5073											
OR5M10	390167	broad.mit.edu	37	11	56345094	56345094	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr11:56345094T>G	ENST00000526812.2	-	1	169	c.104A>C	c.(103-105)tAc>tCc	p.Y35S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGTGATTAGGTAGATCGCCAG	0.488																																																0			11											169	162	164					11																	56345094		1951	4144	6095	56101670	SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.104A>C	11.37:g.56345094T>G	ENSP00000436004:p.Tyr35Ser		56101670	B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545392	0.65198	.	.	ENSG00000254834	ENST00000526812	T	0.04654	3.58	4.04	4.04	0.47022	.	.	.	.	.	T	0.29882	0.0747	H	0.96142	3.775	0.37758	D	0.926219	D	0.71674	0.998	D	0.68943	0.961	T	0.52616	-0.8552	9	0.87932	D	0	.	12.2902	0.54815	0.0:0.0:0.0:1.0	.	35	Q6IEU7	OR5MA_HUMAN	S	35	ENSP00000436004:Y35S	ENSP00000436004:Y35S	Y	-	2	0	OR5M10	56101670	1.000000	0.71417	0.134000	0.22075	0.046000	0.14306	4.482000	0.60257	1.816000	0.52996	0.514000	0.50259	TAC		0.488	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		G	56345094	T	G	56345094	3	3	95	1	0	0	0	0	1	0	0	0	11173	1638	57	5	847	5	OR5M10	11	56345094	Missense_Mutation	SNP	T	TCGA-13-0886-01A-01W-0420-08	8106062	56345094	78661422	30	5074											
TAF6L	10629	broad.mit.edu	37	11	62554166	62554166	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr11:62554166C>T	ENST00000294168.3	+	11	1468	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	TMEM223_ENST00000527073.1_Intron|RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000533861.1_5'Flank|TMEM179B_ENST00000333449.4_5'Flank	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	423					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P423S(1)		endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCCGCTGCCGCCAGGGGGCGC	0.677											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											14	17	16					11																	62554166		2172	4269	6441	62310742	SO:0001583	missense	10629			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1267C>T	11.37:g.62554166C>T	ENSP00000294168:p.Pro423Ser	1062	62310742	B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	6.506	0.461628	0.12342	.	.	ENSG00000162227	ENST00000294168	T	0.39997	1.05	5.09	3.16	0.36331	.	0.287960	0.33290	N	0.005066	T	0.19846	0.0477	N	0.14661	0.345	0.29967	N	0.818882	B	0.02656	0.0	B	0.04013	0.001	T	0.18116	-1.0347	10	0.11182	T	0.66	-6.5676	5.7428	0.18104	0.1923:0.7074:0.0:0.1003	.	423	Q9Y6J9	TAF6L_HUMAN	S	423	ENSP00000294168:P423S	ENSP00000294168:P423S	P	+	1	0	TAF6L	62310742	0.000000	0.05858	0.005000	0.12908	0.208000	0.24298	-0.003000	0.12901	0.785000	0.33685	0.655000	0.94253	CCA		0.677	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		T	62554166	C	T	62554166	3	4	95	1	0	0	0	0	1	0	0	0	15531	739	26	2	1305	2	TAF6L	11	62554166	Missense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08	6209072	62554166	72452350	31	5075											
DDX6	1656	broad.mit.edu	37	11	118627891	118627891	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr11:118627891T>C	ENST00000526070.2	-	10	1459	c.1099A>G	c.(1099-1101)Aaa>Gaa	p.K367E	DDX6_ENST00000264018.4_Missense_Mutation_p.K367E|DDX6_ENST00000534980.1_Missense_Mutation_p.K367E	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	367	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.K356E(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TGCCTCATTTTAGCATGAATA	0.323			T	IGH@	B-NHL																																		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	1	Substitution - Missense(1)	ovary(1)	11											43	38	40					11																	118627891		1794	4061	5855	118133101	SO:0001583	missense	1656			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1099A>G	11.37:g.118627891T>C	ENSP00000433704:p.Lys367Glu		118133101	Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715786	0.68844	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.04654	3.58;3.58;3.58	5.79	5.79	0.91817	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.03871	0.0109	N	0.12920	0.275	0.80722	D	1	P	0.41345	0.746	B	0.36534	0.227	T	0.58674	-0.7595	10	0.34782	T	0.22	.	15.7947	0.78401	0.0:0.0:0.0:1.0	.	367	P26196	DDX6_HUMAN	E	367	ENSP00000264018:K367E;ENSP00000442266:K367E;ENSP00000433704:K367E	ENSP00000264018:K367E	K	-	1	0	DDX6	118133101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.036000	0.88901	2.193000	0.70182	0.482000	0.46254	AAA		0.323	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		C	118627891	T	C	118627891	3	2	95	1	0	0	0	0	1	0	0	0	4377	1763	61	4	368	4	DDX6	11	118627891	Missense_Mutation	SNP	T	TCGA-13-0886-01A-01W-0420-08	56073725	118627891	16378625	32	5076											
DCD	117159	broad.mit.edu	37	12	55038511	55038511	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr12:55038511C>G	ENST00000293371.6	-	5	508	c.319G>C	c.(319-321)Gac>Cac	p.D107H	DCD_ENST00000456047.2_3'UTR	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	107					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)	p.D107H(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				AGTACTGAGTCAAGGACGTCT	0.423																																																1	Substitution - Missense(1)	ovary(1)	12											38	33	34					12																	55038511		2203	4299	6502	53324778	SO:0001583	missense	117159			AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"proteolysis inducing factor", "preproteolysin", "diffusible survival/evasion peptide", "survival promoting peptide"	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.319G>C	12.37:g.55038511C>G	ENSP00000293371:p.Asp107His		53324778	A5JHP2|A5JHP3|P58461|Q53YJ2	Missense_Mutation	SNP	ENST00000293371.6	37	CCDS8884.1	.	.	.	.	.	.	.	.	.	.	C	1.435	-0.569150	0.03910	.	.	ENSG00000161634	ENST00000293371	.	.	.	2.01	-1.38	0.09027	.	.	.	.	.	T	0.19805	0.0476	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.52514	0.701	T	0.13176	-1.0519	8	0.62326	D	0.03	.	4.292	0.10883	0.0:0.3689:0.4693:0.1618	.	107	P81605	DCD_HUMAN	H	107	.	ENSP00000293371:D107H	D	-	1	0	DCD	53324778	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.307000	0.02733	-0.356000	0.08187	-0.253000	0.11424	GAC		0.423	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283		G	55038511	C	G	55038511	3	3	95	1	0	0	0	0	1	0	0	0	4283	826	29	3	17	3	DCD	12	55038511	Missense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08		55038511	78813384	33	5077											
TBX5	6910	broad.mit.edu	37	12	114793778	114793778	+	Silent	SNP	C	C	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr12:114793778C>T	ENST00000310346.4	-	9	1782	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	TBX5_ENST00000349716.5_Silent_p.S322S|TBX5_ENST00000405440.2_Silent_p.S372S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	372					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S372S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCGCTGTGCCGACTCTGTCC	0.592																																					NSCLC(152;1358 1980 4050 23898 40356)											1	Substitution - coding silent(1)	ovary(1)	12											99	87	91					12																	114793778		2203	4300	6503	113278161	SO:0001819	synonymous_variant	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1116G>A	12.37:g.114793778C>T			113278161	A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	CCDS9173.1																																																																																				0.592	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		T	114793778	C	T	114793778	2	4	95	1	0	0	0	0	0	0	0	1	15661	639	23	1		1	TBX5	12	114793778	Silent	SNP	C	TCGA-13-0886-01A-01W-0420-08	59755267	114793778	19058117	34	5078											
SCEL	8796	broad.mit.edu	37	13	78137968	78137968	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr13:78137968A>G	ENST00000349847.3	+	5	308	c.224A>G	c.(223-225)aAa>aGa	p.K75R	SCEL_ENST00000535157.1_Missense_Mutation_p.K75R|SCEL_ENST00000377246.3_Missense_Mutation_p.K75R	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	75					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.K75R(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGCTACAGGAAAGTAAATGAG	0.308																																																1	Substitution - Missense(1)	ovary(1)	13											99	106	103					13																	78137968		2203	4300	6503	77035969	SO:0001583	missense	8796			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.224A>G	13.37:g.78137968A>G	ENSP00000302579:p.Lys75Arg		77035969	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.987665	0.35036	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.22743	1.94;1.94;1.94	5.21	2.69	0.31865	.	0.227925	0.31246	N	0.007982	T	0.24353	0.0590	M	0.64997	1.995	0.25727	N	0.98531	P;D;D	0.53462	0.477;0.96;0.96	B;P;P	0.49829	0.288;0.52;0.623	T	0.05666	-1.0871	10	0.29301	T	0.29	-18.3371	5.93	0.19134	0.7404:0.1693:0.0903:0.0	.	75;75;75	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	R	75	ENSP00000437895:K75R;ENSP00000366454:K75R;ENSP00000302579:K75R	ENSP00000315127:K75R	K	+	2	0	SCEL	77035969	0.972000	0.33761	0.934000	0.37439	0.109000	0.19521	1.659000	0.37387	2.086000	0.62901	0.459000	0.35465	AAA		0.308	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		G	78137968	A	G	78137968	3	3	95	1	0	0	0	0	1	0	0	0	13891	14	1	4	238	4	SCEL	13	78137968	Missense_Mutation	SNP	A	TCGA-13-0886-01A-01W-0420-08		78137968	37031910	35	5079											
YLPM1	56252	broad.mit.edu	37	14	75265137	75265137	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr14:75265137G>A	ENST00000325680.7	+	5	3261	c.3137G>A	c.(3136-3138)aGt>aAt	p.S1046N	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.S851N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	851	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.S851N(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGGCAATCAGTCGAGGCCCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	14											103	105	105					14																	75265137		1969	4153	6122	74334890	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3137G>A	14.37:g.75265137G>A	ENSP00000324463:p.Ser1046Asn		74334890	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.521379	0.00967	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.85	-2.43	0.06522	.	0.737841	0.13586	N	0.376948	T	0.06826	0.0174	N	0.01109	-1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	9	0.12103	T	0.63	0.0339	3.3015	0.06984	0.4995:0.0954:0.2734:0.1317	.	1046	P49750-4	.	N	1046;851;759	.	ENSP00000238571:S851N	S	+	2	0	YLPM1	74334890	0.000000	0.05858	0.002000	0.10522	0.950000	0.60333	-0.015000	0.12634	-0.346000	0.08312	-0.148000	0.13756	AGT		0.498	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		A	75265137	G	A	75265137	3	1	95	1	0	0	0	0	1	0	0	0	17486	1029	36	2	3155	2	YLPM1	14	75265137	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08		75265137	32084403	36	5080											
CGNL1	84952	broad.mit.edu	37	15	57810602	57810602	+	Silent	SNP	A	A	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr15:57810602A>T	ENST00000281282.5	+	10	2700	c.2622A>T	c.(2620-2622)cgA>cgT	p.R874R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	874						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.R874R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGAAATACGACAGTTAGAGG	0.473																																																1	Substitution - coding silent(1)	ovary(1)	15											84	73	77					15																	57810602		2192	4292	6484	55597894	SO:0001819	synonymous_variant	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2622A>T	15.37:g.57810602A>T			55597894	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	CCDS10161.1																																																																																				0.473	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		T	57810602	A	T	57810602	2	4	95	1	0	0	0	0	0	0	0	1	3304	262	10	5		5	CGNL1	15	57810602	Silent	SNP	A	TCGA-13-0886-01A-01W-0420-08		57810602	44720790	37	5081											
DCUN1D3	123879	broad.mit.edu	37	16	20871561	20871561	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr16:20871561G>T	ENST00000324344.4	-	3	847	c.562C>A	c.(562-564)Cag>Aag	p.Q188K	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.Q188K	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	188	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)		p.Q188K(1)		NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGGCCAAACTGAAATGTAAAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	16											148	152	150					16																	20871561		2201	4300	6501	20779062	SO:0001583	missense	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.562C>A	16.37:g.20871561G>T	ENSP00000319482:p.Gln188Lys		20779062	B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330403	0.60743	.	.	ENSG00000188215	ENST00000324344	.	.	.	5.92	5.92	0.95590	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	N	0.17474	0.49	0.80722	D	1	B	0.23377	0.084	B	0.22880	0.042	T	0.39800	-0.9596	9	0.05436	T	0.98	.	20.3248	0.98698	0.0:0.0:1.0:0.0	.	188	Q8IWE4	DCNL3_HUMAN	K	188	.	ENSP00000319482:Q188K	Q	-	1	0	DCUN1D3	20779062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.793000	0.99091	2.818000	0.97014	0.655000	0.94253	CAG		0.478	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		T	20871561	G	T	20871561	3	4	95	1	0	0	0	0	1	0	0	0	4315	1299	45	3	356	3	DCUN1D3	16	20871561	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08		20871561	69483192	38	5082											
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V272M	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(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)	CAAACACGCACCTCAAAGCTG	0.527		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"	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	17	GRCh37	CM920676	TP53	M	rs121912657						62	54	57					17																	7577124		2203	4300	6503	7517849	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met		7517849	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577124	C	T	7577124	3	4	95	1	0	0	0	0	1	0	0	0	16381	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08		7577124	73618086	39	5083											
ALDH3A1	218	broad.mit.edu	37	17	19644431	19644431	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr17:19644431A>C	ENST00000457500.2	-	5	1111	c.782T>G	c.(781-783)gTg>gGg	p.V261G	ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.V261G|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V188G|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V261G|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V261G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	261					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.V261G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GAGCTTCTCCACAATTTGGTT	0.557																																																1	Substitution - Missense(1)	ovary(1)	17											82	72	75					17																	19644431		2203	4300	6503	19585023	SO:0001583	missense	218			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.782T>G	17.37:g.19644431A>C	ENSP00000411821:p.Val261Gly		19585023	A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568423	0.65651	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.27	4.2	0.49525	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.115008	0.56097	D	0.000022	D	0.91408	0.7289	H	0.94222	3.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.994	D	0.91703	0.5375	10	0.87932	D	0	-3.2745	10.0586	0.42261	0.9209:0.0:0.0791:0.0	.	261;378;261	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	G	261;261;319;261;261;188;261	ENSP00000225740:V261G;ENSP00000378923:V261G;ENSP00000388469:V261G;ENSP00000411821:V261G;ENSP00000389766:V261G	ENSP00000225740:V261G	V	-	2	0	ALDH3A1	19585023	1.000000	0.71417	0.946000	0.38457	0.601000	0.36947	5.779000	0.68948	0.871000	0.35750	0.482000	0.46254	GTG		0.557	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		C	19644431	A	C	19644431	3	2	95	1	0	0	0	0	1	0	0	0	497	159	6	5	603	5	ALDH3A1	17	19644431	Missense_Mutation	SNP	A	TCGA-13-0886-01A-01W-0420-08	12067307	19644431	61550779	40	5084											
C17orf46	124783	broad.mit.edu	37	17	43333263	43333263	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr17:43333263C>G	ENST00000331780.4	-	4	381	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	SPATA32_ENST00000543122.1_Missense_Mutation_p.E75Q|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	96					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)		p.E96Q(1)									AAGTCAGACTCCTCGTTCGAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	17											130	120	123					17																	43333263		2203	4300	6503	40689046	SO:0001583	missense	124783			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.286G>C	17.37:g.43333263C>G	ENSP00000331532:p.Glu96Gln		40689046	Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628771	0.28978	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.47528	0.84;0.89	3.33	-5.17	0.02849	.	.	.	.	.	T	0.28632	0.0709	N	0.19112	0.55	0.09310	N	1	P	0.50528	0.936	P	0.44561	0.453	T	0.23762	-1.0179	9	0.46703	T	0.11	.	5.7807	0.18304	0.0:0.2884:0.1494:0.5622	.	96	Q96LK8	CQ046_HUMAN	Q	96;75	ENSP00000331532:E96Q;ENSP00000442724:E75Q	ENSP00000331532:E96Q	E	-	1	0	C17orf46	40689046	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.116000	0.10724	-1.009000	0.03400	-1.224000	0.01588	GAG		0.557	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		G	43333263	C	G	43333263	3	3	95	1	0	0	0	0	1	0	0	0	1857	864	30	3	876	3	C17orf46	17	43333263	Missense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08	23688832	43333263	37861947	41	5085											
RGL3	57139	broad.mit.edu	37	19	11508184	11508184	+	Silent	SNP	C	C	T	rs376798441		TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr19:11508184C>T	ENST00000380456.3	-	17	1899	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S	RGL3_ENST00000393423.3_Silent_p.S618S|RGL3_ENST00000568628.1_5'UTR	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	612	Interaction with HRAS, MRAS and RIT1. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S612S(1)|p.S376S(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CACGGGCCTCCGAGCTCTGCT	0.682																																					GBM(174;751 2067 17998 27979 33959)											2	Substitution - coding silent(2)	ovary(2)	19						C	,	0,4402		0,0,2201	21	24	23		1836,1854	-9	0.1	19		23	2,8590		0,2,4294	no	coding-synonymous,coding-synonymous	RGL3	NM_001035223.2,NM_001161616.1	,	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	,	612/711,618/717	11508184	2,12992	2201	4296	6497	11369184	SO:0001819	synonymous_variant	57139			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1836G>A	19.37:g.11508184C>T			11369184	B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	CCDS32910.1																																																																																				0.682	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		T	11508184	C	T	11508184	2	4	95	1	0	0	0	0	0	0	0	1	13281	639	23	1		1	RGL3	19	11508184	Silent	SNP	C	TCGA-13-0886-01A-01W-0420-08		11508184	47620799	42	5086											
ZNF471	57573	broad.mit.edu	37	19	57037056	57037056	+	Silent	SNP	G	G	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr19:57037056G>A	ENST00000308031.5	+	5	1753	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	540					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.E540E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATACAGGAGAGAAACCTTATG	0.383																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											1	Substitution - coding silent(1)	ovary(1)	19											101	107	105					19																	57037056		2203	4300	6503	61728868	SO:0001819	synonymous_variant	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1620G>A	19.37:g.57037056G>A			61728868	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Silent	SNP	ENST00000308031.5	37	CCDS12945.1																																																																																				0.383	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		A	57037056	G	A	57037056	2	1	95	1	0	0	0	0	0	0	0	1	17930	933	33	2		2	ZNF471	19	57037056	Silent	SNP	G	TCGA-13-0886-01A-01W-0420-08	45528872	57037056	2091927	43	5087											
TUBB1	81027	broad.mit.edu	37	20	57598984	57598984	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr20:57598984A>T	ENST00000217133.1	+	4	771	c.502A>T	c.(502-504)Agc>Tgc	p.S168C		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	168					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S168C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAATTCCTTCAGCGTCATGCC	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											126	128	128					20																	57598984		2203	4300	6503	57032379	SO:0001583	missense	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.502A>T	20.37:g.57598984A>T	ENSP00000217133:p.Ser168Cys		57032379		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431077	0.83776	.	.	ENSG00000101162	ENST00000217133	T	0.72394	-0.65	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89962	0.4087	10	0.87932	D	0	.	14.5622	0.68148	1.0:0.0:0.0:0.0	.	168	Q9H4B7	TBB1_HUMAN	C	168	ENSP00000217133:S168C	ENSP00000217133:S168C	S	+	1	0	TUBB1	57032379	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.339000	0.96797	2.050000	0.60909	0.533000	0.62120	AGC		0.567	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		T	57598984	A	T	57598984	3	4	95	1	0	0	0	0	1	0	0	0	16753	188	7	5	516	5	TUBB1	20	57598984	Missense_Mutation	SNP	A	TCGA-13-0886-01A-01W-0420-08		57598984	5426536	44	5088											
DSCAM	1826	broad.mit.edu	37	21	41559851	41559851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr21:41559851C>A	ENST00000400454.1	-	13	3094	c.2617G>T	c.(2617-2619)Gag>Tag	p.E873*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	873	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E873*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCACGGTCCTCCCCATAAGAA	0.413																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - Nonsense(1)	ovary(1)	21											125	113	117					21																	41559851		1897	4113	6010	40481721	SO:0001587	stop_gained	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2617G>T	21.37:g.41559851C>A	ENSP00000383303:p.Glu873*		40481721	O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	40	8.082710	0.98646	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	18.0962	0.89490	0.0:1.0:0.0:0.0	.	.	.	.	X	873;625	.	ENSP00000383303:E873X	E	-	1	0	DSCAM	40481721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.953000	0.70290	2.309000	0.77851	0.561000	0.74099	GAG		0.413	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41559851	C	A	41559851	4	1	95	1	0	0	0	0	0	1	0	0	4768	864	30	3	3505	3	DSCAM	21	41559851	Nonsense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08		41559851	6570044	45	5089											
CRYBB1	1414	broad.mit.edu	37	22	26997971	26997971	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chr22:26997971G>T	ENST00000215939.2	-	5	577	c.447C>A	c.(445-447)caC>caA	p.H149Q		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	149	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.H149Q(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGGAGATTTTGTGCTCCTGGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	22											89	68	75					22																	26997971		2203	4300	6503	25327971	SO:0001583	missense	1414				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.447C>A	22.37:g.26997971G>T	ENSP00000215939:p.His149Gln		25327971		Missense_Mutation	SNP	ENST00000215939.2	37	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378698	0.42207	.	.	ENSG00000100122	ENST00000215939	T	0.75050	-0.9	4.7	1.39	0.22231	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.84763	0.5544	M	0.88775	2.98	0.52501	D	0.999958	D	0.76494	0.999	D	0.70935	0.971	D	0.84048	0.0368	10	0.87932	D	0	.	7.8496	0.29446	0.3365:0.0:0.6635:0.0	.	149	P53674	CRBB1_HUMAN	Q	149	ENSP00000215939:H149Q	ENSP00000215939:H149Q	H	-	3	2	CRYBB1	25327971	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	1.127000	0.31357	0.577000	0.29470	-0.140000	0.14226	CAC		0.572	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		T	26997971	G	T	26997971	3	4	95	1	0	0	0	0	1	0	0	0	3910	1368	48	3	319	3	CRYBB1	22	26997971	Missense_Mutation	SNP	G	TCGA-13-0886-01A-01W-0420-08		26997971	24306595	46	5090											
HUWE1	10075	broad.mit.edu	37	X	53612055	53612055	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chrX:53612055A>T	ENST00000342160.3	-	39	5375	c.4918T>A	c.(4918-4920)Tct>Act	p.S1640T	HUWE1_ENST00000218328.8_Missense_Mutation_p.S1640T|HUWE1_ENST00000262854.6_Missense_Mutation_p.S1640T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1640	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S1503T(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCCAGGCAGAATCAATAGTG	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											241	184	203					X																	53612055		2203	4300	6503	53628780	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4918T>A	X.37:g.53612055A>T	ENSP00000340648:p.Ser1640Thr		53628780	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.22|11.22	1.573473|1.573473	0.28092|0.28092	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|T;T;T	.|0.40476	.|1.03;1.03;1.03	5.61|5.61	4.5|4.5	0.54988|0.54988	.|WWE domain (2);	.|0.615221	.|0.16667	.|N	.|0.204534	T|T	0.21387|0.21387	0.0515|0.0515	N|N	0.14661|0.14661	0.345|0.345	0.36541|0.36541	D|D	0.871274|0.871274	.|B;B	.|0.16396	.|0.017;0.014	.|B;B	.|0.11329	.|0.006;0.004	T|T	0.17471|0.17471	-1.0368|-1.0368	5|10	.|0.14656	.|T	.|0.56	.|.	5.39|5.39	0.16240|0.16240	0.508:0.3509:0.0:0.1411|0.508:0.3509:0.0:0.1411	.|.	.|1640;1640	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	Y|T	673|1640	.|ENSP00000340648:S1640T;ENSP00000262854:S1640T;ENSP00000218328:S1640T	.|ENSP00000218328:S1640T	F|S	-|-	2|1	0|0	HUWE1|HUWE1	53628780|53628780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.964000|1.964000	0.40462|0.40462	1.887000|1.887000	0.54652|0.54652	0.486000|0.486000	0.48141|0.48141	TTC|TCT		0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53612055	A	T	53612055	3	4	95	1	0	0	0	0	1	0	0	0	7461	246	9	5	8386	5	HUWE1	23	53612055	Missense_Mutation	SNP	A	TCGA-13-0886-01A-01W-0420-08		53612055	101658505	47	5091											
PHF8	23133	broad.mit.edu	37	X	54026305	54026305	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0886-01A-01W-0420-08	TCGA-13-0886-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06903a57-1b66-484e-a4ab-a4eccbd17567	f6ba1700-e115-4b2a-b4cb-33ce44be8343	g.chrX:54026305C>T	ENST00000357988.5	-	11	1697	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	PHF8_ENST00000338946.6_Missense_Mutation_p.E411K|PHF8_ENST00000338154.6_Missense_Mutation_p.E411K|PHF8_ENST00000322659.8_Missense_Mutation_p.E411K	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	447					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E411K(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ATATTTACTTCTTTCCTTGTC	0.483																																																1	Substitution - Missense(1)	ovary(1)	X											64	52	56					X																	54026305		2203	4300	6503	54043030	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1339G>A	X.37:g.54026305C>T	ENSP00000350676:p.Glu447Lys		54043030	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.235345|4.235345	0.79800|0.79800	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302	T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70072|0.70072	0.3182|0.3182	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;B|.	0.65815|.	0.995;0.976;0.986;0.147|.	P;P;P;B|.	0.59948|.	0.866;0.556;0.741;0.054|.	T|T	0.68671|0.68671	-0.5347|-0.5347	10|5	0.56958|.	D|.	0.05|.	-17.1937|-17.1937	15.417|15.417	0.74977|0.74977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	411;411;447;447|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	K|K	447;411;411;441;411|174	ENSP00000350676:E447K;ENSP00000338868:E411K;ENSP00000340051:E411K;ENSP00000319473:E411K|.	ENSP00000319473:E411K|.	E|R	-|-	1|2	0|0	PHF8|PHF8	54043030|54043030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.517000|4.517000	0.60503|0.60503	2.232000|2.232000	0.73038|0.73038	0.600000|0.600000	0.82982|0.82982	GAA|AGA		0.483	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		T	54026305	C	T	54026305	3	4	95	1	0	0	0	0	1	0	0	0	11840	922	32	2	2061	2	PHF8	23	54026305	Missense_Mutation	SNP	C	TCGA-13-0886-01A-01W-0420-08	414250	54026305	101244255	48	5092											
ARHGEF16	27237	genome.wustl.edu	37	1	3389714	3389714	+	Silent	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:3389714G>A	ENST00000378378.4	+	7	1500	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	ARHGEF16_ENST00000378371.2_Silent_p.E77E|ARHGEF16_ENST00000413250.2_Silent_p.E69E|ARHGEF16_ENST00000378373.1_Silent_p.E77E	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	365	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E77E(1)		lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCTGGAGGAGCACGCTGAGA	0.622																																																1	Substitution - coding silent(1)	ovary(1)	1											160	114	129					1																	3389714		2203	4300	6503	3379574	SO:0001819	synonymous_variant	27237			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1095G>A	1.37:g.3389714G>A			3379574	Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	CCDS46.2																																																																																				0.622	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		A	3389714	G	A	3389714	2	1	96	1	0	0	0	0	0	0	0	1	899	962	34	2		2	ARHGEF16	1	3389714	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09		3389714	245860907	1	5093											
SLC9A1	6548	genome.wustl.edu	37	1	27427698	27427698	+	Silent	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:27427698G>A	ENST00000263980.3	-	11	2681	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	SLC9A1_ENST00000545949.1_Silent_p.G363G|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	702					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.G702G(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCTTACCTGAGCCGATGCGGG	0.637																																																1	Substitution - coding silent(1)	ovary(1)	1											43	45	44					1																	27427698		2203	4300	6503	27300285	SO:0001819	synonymous_variant	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2106C>T	1.37:g.27427698G>A			27300285	B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	CCDS295.1																																																																																				0.637	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		A	27427698	G	A	27427698	2	1	96	1	0	0	0	0	0	0	0	1	14712	958	34	2		2	SLC9A1	1	27427698	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09	24037984	27427698	221822923	2	5094											
TM2D1	83941	genome.wustl.edu	37	1	62190763	62190763	+	Silent	SNP	A	A	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	C	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:62190763A>C	ENST00000606498.1	-	1	50	c.30T>G	c.(28-30)tcT>tcG	p.S10S	TM2D1_ENST00000371180.2_Silent_p.S72S|TM2D1_ENST00000294613.5_Silent_p.S10S|TM2D1_ENST00000371177.2_Silent_p.S10S			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	10					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)	p.S72S(1)		large_intestine(2)|lung(3)|ovary(1)	6						CCTCCGGAGCAGACGGACCAG	0.682																																																1	Substitution - coding silent(1)	ovary(1)	1											37	44	42					1																	62190763		1919	4103	6022	61963351	SO:0001819	synonymous_variant	83941			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.30T>G	1.37:g.62190763A>C			61963351	A6NDA8	Silent	SNP	ENST00000606498.1	37																																																																																					0.682	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027		C	62190763	A	C	62190763	2	2	96	1	0	0	0	0	0	0	0	1	15963	175	7	5		5	TM2D1	1	62190763	Silent	SNP	A	TCGA-13-0887-01A-01W-0421-09	34763065	62190763	187059858	3	5095											
DOCK7	85440	genome.wustl.edu	37	1	63119432	63119432	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:63119432C>G	ENST00000340370.5	-	4	370	c.353G>C	c.(352-354)aGa>aCa	p.R118T	DOCK7_ENST00000404627.2_Missense_Mutation_p.R118T|DOCK7_ENST00000251157.5_Missense_Mutation_p.R118T	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	118					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.R118T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGTATAACTTCTTATACAGTC	0.303																																																1	Substitution - Missense(1)	ovary(1)	1											61	62	62					1																	63119432		2203	4295	6498	62892020	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.353G>C	1.37:g.63119432C>G	ENSP00000340742:p.Arg118Thr		62892020	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497444	0.85069	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.42900	0.96;0.96;0.96	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.40543	1.245	0.80722	D	1	P;B;B;B;B	0.43352	0.804;0.129;0.129;0.129;0.217	B;B;B;B;B	0.40329	0.326;0.138;0.089;0.138;0.138	T	0.06356	-1.0831	10	0.45353	T	0.12	.	18.898	0.92432	0.0:1.0:0.0:0.0	.	118;118;118;118;118	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	T	118	ENSP00000251157:R118T;ENSP00000340742:R118T;ENSP00000384446:R118T	ENSP00000251157:R118T	R	-	2	0	DOCK7	62892020	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.633000	0.83260	2.699000	0.92147	0.655000	0.94253	AGA		0.303	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		G	63119432	C	G	63119432	3	3	96	1	0	0	0	0	1	0	0	0	4692	913	32	3	6160	3	DOCK7	1	63119432	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	928669	63119432	186131189	4	5096											
STXBP3	6814	genome.wustl.edu	37	1	109321979	109321979	+	Silent	SNP	G	G	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:109321979G>C	ENST00000370008.3	+	9	806	c.756G>C	c.(754-756)ctG>ctC	p.L252L	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	252	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)	p.L252L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TGCATGAACTGACCTTTCAGG	0.368																																																1	Substitution - coding silent(1)	ovary(1)	1											207	195	199					1																	109321979		2203	4300	6503	109123502	SO:0001819	synonymous_variant	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.756G>C	1.37:g.109321979G>C			109123502	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Silent	SNP	ENST00000370008.3	37	CCDS790.1																																																																																				0.368	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		C	109321979	G	C	109321979	2	2	96	1	0	0	0	0	0	0	0	1	15356	1277	45	3		3	STXBP3	1	109321979	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09	46202547	109321979	139928642	5	5097											
UBL4B	164153	genome.wustl.edu	37	1	110655347	110655347	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:110655347A>G	ENST00000334179.3	+	1	286	c.191A>G	c.(190-192)aAt>aGt	p.N64S		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	64	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)		p.N64S(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		ATTGGGCCCAATGCCTCTATC	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											87	84	85					1																	110655347		2203	4300	6503	110456870	SO:0001583	missense	164153				CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.191A>G	1.37:g.110655347A>G	ENSP00000334044:p.Asn64Ser		110456870		Missense_Mutation	SNP	ENST00000334179.3	37	CCDS820.1	.	.	.	.	.	.	.	.	.	.	A	8.163	0.789897	0.16258	.	.	ENSG00000186150	ENST00000334179	T	0.43688	0.94	4.14	1.81	0.25067	Ubiquitin supergroup (1);Ubiquitin (2);	0.219310	0.39274	N	0.001406	T	0.15305	0.0369	L	0.50919	1.6	0.26015	N	0.981949	B	0.15473	0.013	B	0.18561	0.022	T	0.23655	-1.0182	10	0.45353	T	0.12	-5.1392	6.4785	0.22049	0.7946:0.0:0.2054:0.0	.	64	Q8N7F7	UBL4B_HUMAN	S	64	ENSP00000334044:N64S	ENSP00000334044:N64S	N	+	2	0	UBL4B	110456870	1.000000	0.71417	0.992000	0.48379	0.325000	0.28411	1.664000	0.37439	0.173000	0.19788	-0.411000	0.06167	AAT		0.607	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392303.1	NM_203412		G	110655347	A	G	110655347	3	3	96	1	0	0	0	0	1	0	0	0	16888	101	4	4	193	4	UBL4B	1	110655347	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	1333368	110655347	138595274	6	5098											
KCNA2	3737	genome.wustl.edu	37	1	111146570	111146570	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:111146570C>G	ENST00000485317.1	-	3	1508	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000316361.4_Missense_Mutation_p.E279Q|KCNA2_ENST00000369770.3_Missense_Mutation_p.E279Q|KCNA2_ENST00000440270.1_Missense_Mutation_p.E279Q			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	279					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E279Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TGAGCGTCCTCTGGCTTCTCA	0.522																																					Pancreas(18;568 735 10587 23710 36357)											1	Substitution - Missense(1)	ovary(1)	1											101	101	101					1																	111146570		2203	4300	6503	110948093	SO:0001583	missense	3737			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.835G>C	1.37:g.111146570C>G	ENSP00000433109:p.Glu279Gln		110948093	Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598694	0.28445	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.41097	D	0.000951	D	0.94729	0.8299	L	0.33245	0.995	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.005	D	0.90337	0.4356	10	0.30078	T	0.28	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	279;279	Q86XG6;P16389	.;KCNA2_HUMAN	Q	279	ENSP00000358785:E279Q;ENSP00000433109:E279Q;ENSP00000415257:E279Q;ENSP00000314520:E279Q	ENSP00000314520:E279Q	E	-	1	0	KCNA2	110948093	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.785000	0.95823	0.655000	0.94253	GAG		0.522	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		G	111146570	C	G	111146570	3	3	96	1	0	0	0	0	1	0	0	0	8003	922	32	3	668	3	KCNA2	1	111146570	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	491223	111146570	138104051	7	5099											
CHD1L	9557	genome.wustl.edu	37	1	146767111	146767111	+	Splice_Site	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:146767111G>A	ENST00000369258.4	+	23	2635		c.e23-1		CHD1L_ENST00000467213.1_Splice_Site|CHD1L_ENST00000361293.5_Splice_Site|CHD1L_ENST00000369259.3_Splice_Site|CHD1L_ENST00000431239.1_Splice_Site	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like						ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.?(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCCTTATCAGATATTATTTT	0.393																																																1	Unknown(1)	ovary(1)	1											124	113	116					1																	146767111		2203	4300	6503	145233735	SO:0001630	splice_region_variant	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2616-1G>A	1.37:g.146767111G>A			145233735	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Splice_Site	SNP	ENST00000369258.4	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564428	0.65651	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2767	0.66184	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD1L	145233735	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	4.857000	0.62939	2.735000	0.93741	0.655000	0.94253	.		0.393	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284	Intron	A	146767111	G	A	146767111	5	1	96	1	0	0	0	0	0	0	1	0	3324	956	33	2	2705	2	CHD1L	1	146767111	Splice_Site	SNP	G	TCGA-13-0887-01A-01W-0421-09	35620541	146767111	102483510	8	5100											
PAPPA2	60676	genome.wustl.edu	37	1	176664958	176664958	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:176664958T>G	ENST00000367662.3	+	7	3873	c.2709T>G	c.(2707-2709)tgT>tgG	p.C903W		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	903					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C903W(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCGGGTGTGTGACTCCTCAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											67	71	69					1																	176664958		2052	4213	6265	174931581	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2709T>G	1.37:g.176664958T>G	ENSP00000356634:p.Cys903Trp		174931581	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495738	0.64186	.	.	ENSG00000116183	ENST00000367662	T	0.01902	4.57	5.41	-0.986	0.10252	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.01256	-1.1404	10	0.87932	D	0	-13.3223	11.2023	0.48749	0.0:0.4311:0.0:0.5689	.	903	Q9BXP8	PAPP2_HUMAN	W	903	ENSP00000356634:C903W	ENSP00000356634:C903W	C	+	3	2	PAPPA2	174931581	0.555000	0.26530	1.000000	0.80357	0.962000	0.63368	-0.273000	0.08548	0.031000	0.15407	-0.376000	0.06991	TGT		0.547	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			G	176664958	T	G	176664958	3	3	96	1	0	0	0	0	1	0	0	0	11433	1702	59	5	2784	5	PAPPA2	1	176664958	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09	29897847	176664958	72585663	9	5101											
CEP350	9857	genome.wustl.edu	37	1	180061860	180061860	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:180061860C>G	ENST00000367607.3	+	34	7038	c.6620C>G	c.(6619-6621)cCa>cGa	p.P2207R	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2207					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P2207R(1)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACCCCATCTCCAGTTCTCAGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											41	41	41					1																	180061860		2202	4300	6502	178328483	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6620C>G	1.37:g.180061860C>G	ENSP00000356579:p.Pro2207Arg		178328483	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032711	0.19590	.	.	ENSG00000135837	ENST00000367607	T	0.61392	0.11	5.73	4.82	0.62117	.	0.144833	0.31747	N	0.007128	T	0.46268	0.1384	L	0.32530	0.975	0.33950	D	0.644285	B;B	0.34329	0.449;0.314	B;B	0.36885	0.235;0.141	T	0.57608	-0.7782	9	.	.	.	.	11.1059	0.48203	0.0:0.8527:0.0:0.1473	.	2207;2207	E7EU22;Q5VT06	.;CE350_HUMAN	R	2207	ENSP00000356579:P2207R	.	P	+	2	0	CEP350	178328483	0.744000	0.28250	0.947000	0.38551	0.045000	0.14185	1.876000	0.39588	1.420000	0.47138	0.655000	0.94253	CCA		0.383	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		G	180061860	C	G	180061860	3	3	96	1	0	0	0	0	1	0	0	0	3254	594	21	3	6750	3	CEP350	1	180061860	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	3396902	180061860	69188761	10	5102											
KIF21B	23046	genome.wustl.edu	37	1	200959145	200959145	+	Silent	SNP	G	G	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:200959145G>C	ENST00000422435.2	-	21	3373	c.3057C>G	c.(3055-3057)tcC>tcG	p.S1019S	KIF21B_ENST00000332129.2_Silent_p.S1019S|KIF21B_ENST00000360529.5_Silent_p.S1019S|KIF21B_ENST00000461742.2_Silent_p.S1019S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1019					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1019S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGATGACCACGGATGTGTCTG	0.637																																																1	Substitution - coding silent(1)	ovary(1)	1											68	63	65					1																	200959145		2203	4300	6503	199225768	SO:0001819	synonymous_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3057C>G	1.37:g.200959145G>C			199225768	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																				0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		C	200959145	G	C	200959145	2	2	96	1	0	0	0	0	0	0	0	1	8289	1103	39	3		3	KIF21B	1	200959145	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09	20897285	200959145	48291476	11	5103											
ITPKB	3707	genome.wustl.edu	37	1	226829735	226829735	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:226829735C>T	ENST00000272117.3	-	4	2337	c.2338G>A	c.(2338-2340)Gcc>Acc	p.A780T	ITPKB_ENST00000429204.1_Missense_Mutation_p.A780T			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	780					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.A306T(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCGGTGGGGGCCTCGGGGTCC	0.632																																					Colon(84;110 1851 5306 33547)											1	Substitution - Missense(1)	ovary(1)	1											163	149	154					1																	226829735		2203	4300	6503	224896358	SO:0001583	missense	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2338G>A	1.37:g.226829735C>T	ENSP00000272117:p.Ala780Thr		224896358	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475646	0.84640	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.15487	2.42;2.42	5.8	5.8	0.92144	.	0.049229	0.85682	D	0.000000	T	0.36717	0.0977	M	0.87381	2.88	0.80722	D	1	P	0.40302	0.712	B	0.43386	0.418	T	0.32455	-0.9906	10	0.62326	D	0.03	-27.4039	20.0586	0.97663	0.0:1.0:0.0:0.0	.	780	P27987	IP3KB_HUMAN	T	780	ENSP00000272117:A780T;ENSP00000411152:A780T	ENSP00000272117:A780T	A	-	1	0	ITPKB	224896358	1.000000	0.71417	0.998000	0.56505	0.527000	0.34593	5.882000	0.69714	2.741000	0.93983	0.650000	0.86243	GCC		0.632	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		T	226829735	C	T	226829735	3	4	96	1	0	0	0	0	1	0	0	0	7918	739	26	2	518	2	ITPKB	1	226829735	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	25870590	226829735	22420886	12	5104											
TARBP1	6894	genome.wustl.edu	37	1	234553941	234553941	+	Silent	SNP	A	A	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:234553941A>G	ENST00000040877.1	-	22	3593	c.3594T>C	c.(3592-3594)gcT>gcC	p.A1198A		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1198					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.A1198A(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)			TGGTGAAACCAGCCTGGAAAA	0.284																																																1	Substitution - coding silent(1)	ovary(1)	1											32	37	35					1																	234553941		2194	4267	6461	232620564	SO:0001819	synonymous_variant	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.3594T>C	1.37:g.234553941A>G			232620564	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																				0.284	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		G	234553941	A	G	234553941	2	3	96	1	0	0	0	0	0	0	0	1	15555	175	7	4		4	TARBP1	1	234553941	Silent	SNP	A	TCGA-13-0887-01A-01W-0421-09	7724206	234553941	14696680	13	5105											
AHCTF1	25909	genome.wustl.edu	37	1	247021017	247021017	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr1:247021017A>T	ENST00000391829.2	-	30	4355	c.4232T>A	c.(4231-4233)cTt>cAt	p.L1411H	AHCTF1_ENST00000366508.1_Missense_Mutation_p.L1446H|AHCTF1_ENST00000326225.3_Missense_Mutation_p.L1420H|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1411	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1411H(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGTGCACAAAGAGAAGCTTC	0.353																																					Colon(145;197 1800 4745 15099 26333)											1	Substitution - Missense(1)	ovary(1)	1											59	60	60					1																	247021017		2203	4300	6503	245087640	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4232T>A	1.37:g.247021017A>T	ENSP00000375705:p.Leu1411His		245087640	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	A	0.446	-0.896036	0.02472	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32753	1.44;1.44;1.44	5.64	0.814	0.18756	.	1.110310	0.06870	N	0.800608	T	0.24812	0.0602	L	0.47716	1.5	0.09310	N	1	B;B;B	0.23249	0.082;0.002;0.001	B;B;B	0.20384	0.029;0.005;0.002	T	0.30736	-0.9968	10	0.46703	T	0.11	-0.0173	3.0172	0.06064	0.2369:0.0:0.3407:0.4224	.	272;1446;1411	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	H	1446;1420;1411	ENSP00000355464:L1446H;ENSP00000355465:L1420H;ENSP00000375705:L1411H	ENSP00000355465:L1420H	L	-	2	0	AHCTF1	245087640	0.027000	0.19231	0.007000	0.13788	0.029000	0.11900	0.404000	0.20999	-0.197000	0.10350	-0.372000	0.07161	CTT		0.353	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		T	247021017	A	T	247021017	3	4	96	1	0	0	0	0	1	0	0	0	408	72	3	5	2596	5	AHCTF1	1	247021017	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	12467076	247021017	2229604	14	5106											
ADI1	55256	genome.wustl.edu	37	2	3502844	3502844	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:3502844T>C	ENST00000327435.6	-	4	678	c.430A>G	c.(430-432)Aag>Gag	p.K144E	RP11-1293J14.1_ENST00000607415.1_lincRNA|ADI1_ENST00000382093.5_Missense_Mutation_p.K138E	NM_018269.3	NP_060739.2			acireductone dioxygenase 1									p.K144E(1)		breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CGCATGGCCTTCGTGTAGTTC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											45	44	44					2																	3502844		2203	4300	6503	3481851	SO:0001583	missense	55256				CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.430A>G	2.37:g.3502844T>C	ENSP00000333666:p.Lys144Glu		3481851		Missense_Mutation	SNP	ENST00000327435.6	37	CCDS1653.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.2|23.2	4.390213|4.390213	0.82902|0.82902	.|.	.|.	ENSG00000182551|ENSG00000182551	ENST00000415131|ENST00000327435;ENST00000382093	.|.	.|.	.|.	4.59|4.59	4.59|4.59	0.56863|0.56863	.|Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77532|0.77532	0.4144|0.4144	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.57720	.|0.826	T|T	0.81790|0.81790	-0.0771|-0.0771	5|9	.|0.59425	.|D	.|0.04	-50.1714|-50.1714	13.2379|13.2379	0.59979|0.59979	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|144	.|Q9BV57	.|MTND_HUMAN	G|E	81|144;138	.|.	.|ENSP00000333666:K144E	E|K	-|-	2|1	0|0	ADI1|ADI1	3481851|3481851	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.312000|0.312000	0.27988|0.27988	7.072000|7.072000	0.76777|0.76777	2.052000|2.052000	0.61016|0.61016	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.473	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		C	3502844	T	C	3502844	3	2	96	1	0	0	0	0	1	0	0	0	315	1792	62	4	113	4	ADI1	2	3502844	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09		3502844	239696529	15	5107											
MFSD2B	388931	genome.wustl.edu	37	2	24244573	24244573	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:24244573T>A	ENST00000406420.3	+	7	753	c.737T>A	c.(736-738)aTc>aAc	p.I246N	MFSD2B_ENST00000338315.4_Missense_Mutation_p.I246N	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	246					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.I246N(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCCGTGTGCATCAGTTTACTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											86	92	90					2																	24244573		2032	4180	6212	24098077	SO:0001583	missense	388931				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.737T>A	2.37:g.24244573T>A	ENSP00000385527:p.Ile246Asn		24098077	B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	t	8.446	0.851961	0.17034	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.88201	-2.35;-2.35	4.68	-2.45	0.06481	Major facilitator superfamily domain, general substrate transporter (1);	1.066930	0.07475	U	0.902904	D	0.83764	0.5325	L	0.44542	1.39	0.09310	N	1	B	0.31705	0.336	B	0.36335	0.222	T	0.70357	-0.4894	10	0.27785	T	0.31	2.7995	8.8498	0.35192	0.0:0.335:0.1995:0.4656	.	246	A6NFX1	MFS2B_HUMAN	N	246	ENSP00000385527:I246N;ENSP00000342501:I246N	ENSP00000342501:I246N	I	+	2	0	MFSD2B	24098077	0.000000	0.05858	0.005000	0.12908	0.348000	0.29142	-0.674000	0.05233	-0.229000	0.09854	-0.259000	0.10710	ATC		0.592	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		A	24244573	T	A	24244573	3	1	96	1	0	0	0	0	1	0	0	0	9531	1435	50	5	763	5	MFSD2B	2	24244573	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09	20741729	24244573	218954800	16	5108											
PRKCE	5581	genome.wustl.edu	37	2	46206132	46206132	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:46206132A>C	ENST00000306156.3	+	4	917	c.590A>C	c.(589-591)cAg>cCg	p.Q197P		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	197					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.Q197P(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	ATAGGAAAGCAGGGATACCAG	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											123	119	120					2																	46206132		1702	3697	5399	46059636	SO:0001583	missense	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.590A>C	2.37:g.46206132A>C	ENSP00000306124:p.Gln197Pro		46059636	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225885	0.79576	.	.	ENSG00000171132	ENST00000306156	D	0.94232	-3.38	4.87	4.87	0.63330	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	H	0.96805	3.885	0.80722	D	1	D	0.65815	0.995	D	0.68039	0.955	D	0.98725	1.0710	10	0.62326	D	0.03	.	14.6501	0.68792	1.0:0.0:0.0:0.0	.	197	Q02156	KPCE_HUMAN	P	197	ENSP00000306124:Q197P	ENSP00000306124:Q197P	Q	+	2	0	PRKCE	46059636	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.044000	0.60594	0.533000	0.62120	CAG		0.413	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			C	46206132	A	C	46206132	3	2	96	1	0	0	0	0	1	0	0	0	12514	188	7	5	604	5	PRKCE	2	46206132	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	21961559	46206132	196993241	17	5109											
EFEMP1	2202	genome.wustl.edu	37	2	56145354	56145354	+	Splice_Site	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:56145354C>A	ENST00000394555.2	-	3	565	c.130G>T	c.(130-132)Gat>Tat	p.D44Y	EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000394554.1_Splice_Site_p.D44Y|EFEMP1_ENST00000355426.3_Splice_Site_p.D44Y	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	44	EGF-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.D44Y(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTGGCTCACCTTTGCATTGC	0.473																																					GBM(92;934 1319 7714 28760 40110)											1	Substitution - Missense(1)	ovary(1)	2											213	181	192					2																	56145354		2203	4300	6503	55998858	SO:0001630	splice_region_variant	2202			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.130+1G>T	2.37:g.56145354C>A			55998858	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170241	0.94768	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000355426;ENST00000438672;ENST00000439193;ENST00000440439;ENST00000429909;ENST00000452337;ENST00000421664	D;D;D;D;D;D;D;D;T	0.99582	-5.4;-5.4;-5.4;-5.4;-5.4;-5.4;-5.4;-6.22;1.2	5.41	5.41	0.78517	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.64402	D	0.000008	D	0.99670	0.9877	M	0.90705	3.14	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.97925	1.0317	9	.	.	.	.	19.1797	0.93617	0.0:1.0:0.0:0.0	.	44	Q12805	FBLN3_HUMAN	Y	44	ENSP00000378058:D44Y;ENSP00000378057:D44Y;ENSP00000347596:D44Y;ENSP00000392055:D44Y;ENSP00000408195:D44Y;ENSP00000398345:D44Y;ENSP00000389319:D44Y;ENSP00000399480:D44Y;ENSP00000405686:D44Y	.	D	-	1	0	EFEMP1	55998858	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.294000	0.78760	2.549000	0.85964	0.563000	0.77884	GAT		0.473	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2		Missense_Mutation	A	56145354	C	A	56145354	5	1	96	1	0	0	0	0	0	0	1	0	4941	695	24	3	1387	3	EFEMP1	2	56145354	Splice_Site	SNP	C	TCGA-13-0887-01A-01W-0421-09	9939222	56145354	187054019	18	5110											
EPC2	26122	genome.wustl.edu	37	2	149539287	149539287	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:149539287G>T	ENST00000258484.6	+	11	1829	c.1795G>T	c.(1795-1797)Gcc>Tcc	p.A599S		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	599	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.A599S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GCAGCAACTTGCCCAGCTTCA	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											115	117	116					2																	149539287		2037	4200	6237	149255757	SO:0001583	missense	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1795G>T	2.37:g.149539287G>T	ENSP00000258484:p.Ala599Ser		149255757	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182922	0.57800	.	.	ENSG00000135999	ENST00000258484	T	0.34667	1.35	5.19	5.19	0.71726	.	0.203904	0.41605	N	0.000859	T	0.54095	0.1837	L	0.48642	1.525	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.44574	-0.9319	10	0.33141	T	0.24	-2.134	19.0877	0.93212	0.0:0.0:1.0:0.0	.	599	Q52LR7	EPC2_HUMAN	S	599	ENSP00000258484:A599S	ENSP00000258484:A599S	A	+	1	0	EPC2	149255757	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.816000	0.86201	2.574000	0.86865	0.563000	0.77884	GCC		0.433	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		T	149539287	G	T	149539287	3	4	96	1	0	0	0	0	1	0	0	0	5161	1319	46	3	1837	3	EPC2	2	149539287	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	93393933	149539287	93660086	19	5111											
NEB	4703	genome.wustl.edu	37	2	152346909	152346909	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:152346909C>T	ENST00000172853.10	-	147	19853	c.19706G>A	c.(19705-19707)gGg>gAg	p.G6569E	NEB_ENST00000427231.2_Missense_Mutation_p.G8425E|NEB_ENST00000603639.1_Missense_Mutation_p.G8425E|NEB_ENST00000409198.1_Missense_Mutation_p.G6569E|NEB_ENST00000397345.3_Missense_Mutation_p.G8425E|RIF1_ENST00000457745.1_Intron|NEB_ENST00000509223.2_Missense_Mutation_p.G338E|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000397336.2_Missense_Mutation_p.G400E|NEB_ENST00000604864.1_Missense_Mutation_p.G8425E			P20929	NEBU_HUMAN	nebulin	6569	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.G6569E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAAGACACCCCCGTCGCTGTA	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											59	63	62					2																	152346909		1972	4146	6118	152055155	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19706G>A	2.37:g.152346909C>T	ENSP00000172853:p.Gly6569Glu		152055155	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.029|1.029	-0.682397|-0.682397	0.03353|0.03353	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000397337;ENST00000434685	T;T;T;T;T;T;T|T;T	0.06449|0.11277	3.45;3.5;3.5;3.3;3.45;4.01;4.17|4.07;2.79	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.101710|0.101710	0.43416|0.43416	D|D	0.000571|0.000571	T|T	0.15912|0.15912	0.0383|0.0383	L|L	0.29908|0.29908	0.895|0.895	0.54753|0.54753	D|D	0.999988|0.999988	B;B;B;B;D;P|.	0.59767|.	0.012;0.024;0.002;0.026;0.986;0.547|.	B;B;B;B;P;B|.	0.56398|.	0.007;0.017;0.003;0.021;0.797;0.281|.	T|T	0.00745|0.00745	-1.1584|-1.1584	10|8	0.25751|0.59425	T|D	0.34|0.04	.|.	14.65|14.65	0.68789|0.68789	0.0:0.8546:0.1454:0.0|0.0:0.8546:0.1454:0.0	.|.	338;400;338;6569;2907;8425|.	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5|.	.;.;.;NEBU_HUMAN;.;.|.	E|R	6569;8425;8425;2525;2907;6569;400;338|559;666	ENSP00000386259:G6569E;ENSP00000380505:G8425E;ENSP00000416578:G8425E;ENSP00000410961:G2907E;ENSP00000172853:G6569E;ENSP00000380497:G400E;ENSP00000427083:G338E|ENSP00000380498:G559R;ENSP00000389074:G666R	ENSP00000172853:G6569E|ENSP00000380498:G559R	G|G	-|-	2|1	0|0	NEB|NEB	152055155|152055155	0.970000|0.970000	0.33590|0.33590	0.609000|0.609000	0.28983|0.28983	0.087000|0.087000	0.18053|0.18053	3.662000|3.662000	0.54510|0.54510	2.595000|2.595000	0.87683|0.87683	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.532	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152346909	C	T	152346909	3	4	96	1	0	0	0	0	1	0	0	0	10302	623	22	2	315	2	NEB	2	152346909	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	2807622	152346909	90852464	20	5112											
TTN	7273	genome.wustl.edu	37	2	179577181	179577181	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:179577181C>G	ENST00000591111.1	-	93	26741	c.26517G>C	c.(26515-26517)caG>caC	p.Q8839H	TTN_ENST00000589042.1_Missense_Mutation_p.Q9156H|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q7912H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12988	Ig-like 71.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q7912H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTACACCTCTGAGAAGGAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											89	88	88					2																	179577181		1849	4098	5947	179285426	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26517G>C	2.37:g.179577181C>G	ENSP00000465570:p.Gln8839His		179285426	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.06	1.527200	0.27299	.	.	ENSG00000155657	ENST00000342992	T	0.41065	1.01	5.88	3.83	0.44106	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33235	0.0856	N	0.25957	0.775	0.80722	D	1	P	0.45634	0.863	P	0.46419	0.516	T	0.14476	-1.0471	9	0.87932	D	0	.	6.1887	0.20512	0.0:0.6598:0.0:0.3402	.	8839	Q8WZ42	TITIN_HUMAN	H	7912	ENSP00000343764:Q7912H	ENSP00000343764:Q7912H	Q	-	3	2	TTN	179285426	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.421000	0.21280	1.450000	0.47717	0.655000	0.94253	CAG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179577181	C	G	179577181	3	3	96	1	0	0	0	0	1	0	0	0	16735	912	32	3	77133	3	TTN	2	179577181	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	27230272	179577181	63622192	21	5113											
DUSP19	142679	genome.wustl.edu	37	2	183960264	183960264	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:183960264T>C	ENST00000354221.4	+	4	707	c.532T>C	c.(532-534)Tct>Cct	p.S178P	DUSP19_ENST00000342619.6_Missense_Mutation_p.S127P|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	178	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.S178P(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						CAGTGCTTTTTCTTTGGTGAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											137	139	138					2																	183960264		2203	4300	6503	183668509	SO:0001583	missense	142679			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.532T>C	2.37:g.183960264T>C	ENSP00000346160:p.Ser178Pro		183668509	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657738	0.67586	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	D;D	0.86562	-2.14;-2.14	5.74	1.69	0.24217	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.436736	0.28176	N	0.016317	D	0.90397	0.6994	M	0.88512	2.96	0.54753	D	0.99998	P;P	0.44281	0.831;0.767	P;P	0.50896	0.522;0.653	D	0.88391	0.3008	10	0.52906	T	0.07	.	8.3501	0.32297	0.1232:0.0:0.2574:0.6194	.	127;178	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	P	127;178	ENSP00000343905:S127P;ENSP00000346160:S178P	ENSP00000343905:S127P	S	+	1	0	DUSP19	183668509	1.000000	0.71417	0.993000	0.49108	0.793000	0.44817	0.620000	0.24403	0.397000	0.25310	0.482000	0.46254	TCT		0.413	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			C	183960264	T	C	183960264	3	2	96	1	0	0	0	0	1	0	0	0	4818	1783	62	4	546	4	DUSP19	2	183960264	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09	4383083	183960264	59239109	22	5114											
ZNF804A	91752	genome.wustl.edu	37	2	185800654	185800654	+	Silent	SNP	T	T	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:185800654T>A	ENST00000302277.6	+	4	1125	c.531T>A	c.(529-531)acT>acA	p.T177T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	177							metal ion binding (GO:0046872)	p.T177T(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGAGAATACTAAAGATGCTA	0.363																																																1	Substitution - coding silent(1)	ovary(1)	2											63	66	65					2																	185800654		2203	4300	6503	185508899	SO:0001819	synonymous_variant	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.531T>A	2.37:g.185800654T>A			185508899	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																				0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185800654	T	A	185800654	2	1	96	1	0	0	0	0	0	0	0	1	18170	1509	53	5		5	ZNF804A	2	185800654	Silent	SNP	T	TCGA-13-0887-01A-01W-0421-09	1840390	185800654	57398719	23	5115											
COL5A2	1290	genome.wustl.edu	37	2	189898938	189898938	+	Missense_Mutation	SNP	C	C	T	rs149064715		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:189898938C>T	ENST00000374866.3	-	54	4632	c.4358G>A	c.(4357-4359)cGg>cAg	p.R1453Q		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1453	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1453Q(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTTCCATTCCGCTTCTGAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	2						C	GLN/ARG	0,4406		0,0,2203	89	78	82		4358	4.8	1	2	dbSNP_134	82	3,8597	3.0+/-9.4	0,3,4297	yes	missense	COL5A2	NM_000393.3	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1453/1500	189898938	3,13003	2203	4300	6503	189607183	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4358G>A	2.37:g.189898938C>T	ENSP00000364000:p.Arg1453Gln		189607183	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747127	0.49257	0.0	3.49E-4	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.73681	-0.77	4.8	4.8	0.61643	Fibrillar collagen, C-terminal (4);	0.000000	0.43579	D	0.000547	T	0.70037	0.3178	L	0.45285	1.41	0.42098	D	0.99132	P;D	0.53151	0.888;0.958	B;P	0.44359	0.25;0.447	T	0.68138	-0.5488	10	0.22109	T	0.4	.	18.4013	0.90518	0.0:1.0:0.0:0.0	.	1093;1453	Q5PR22;P05997	.;CO5A2_HUMAN	Q	1453;1093	ENSP00000364000:R1453Q	ENSP00000364000:R1453Q	R	-	2	0	COL5A2	189607183	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.416000	0.44644	2.647000	0.89833	0.650000	0.86243	CGG		0.408	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		T	189898938	C	T	189898938	3	4	96	1	0	0	0	0	1	0	0	0	3697	652	23	1	145	1	COL5A2	2	189898938	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	4098284	189898938	53300435	24	5116											
AOX1	316	genome.wustl.edu	37	2	201474125	201474125	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:201474125T>G	ENST00000374700.2	+	12	1382	c.1141T>G	c.(1141-1143)Ttg>Gtg	p.L381V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	381	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.L381V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TACCCTCAACTTGCTATCAAA	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											81	76	78					2																	201474125		2203	4300	6503	201182370	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1141T>G	2.37:g.201474125T>G	ENSP00000363832:p.Leu381Val		201182370	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	0.173	-1.069942	0.01918	.	.	ENSG00000138356	ENST00000374700	T	0.26518	1.73	5.48	-3.47	0.04753	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.324591	0.28889	N	0.013816	T	0.10423	0.0255	N	0.17379	0.485	0.19945	N	0.999946	B	0.02656	0.0	B	0.13407	0.009	T	0.37957	-0.9683	10	0.08179	T	0.78	-2.5129	9.0108	0.36139	0.0:0.3662:0.4806:0.1532	.	381	Q06278	ADO_HUMAN	V	381	ENSP00000363832:L381V	ENSP00000363832:L381V	L	+	1	2	AOX1	201182370	0.052000	0.20516	0.092000	0.20876	0.020000	0.10135	0.227000	0.17795	-0.502000	0.06596	-0.371000	0.07208	TTG		0.428	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		G	201474125	T	G	201474125	3	3	96	1	0	0	0	0	1	0	0	0	729	1606	56	5	1187	5	AOX1	2	201474125	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09	11575187	201474125	41725248	25	5117											
TUBA4A	7277	genome.wustl.edu	37	2	220115769	220115769	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:220115769C>G	ENST00000248437.4	-	4	825	c.652G>C	c.(652-654)Gac>Cac	p.D218H	TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.D203H	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	218					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D203H(1)|p.D218H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	CGCTCGATGTCTAGGTTGCGG	0.542																																																2	Substitution - Missense(2)	ovary(2)	2											119	118	118					2																	220115769		2203	4300	6503	219824013	SO:0001583	missense	7277			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.652G>C	2.37:g.220115769C>G	ENSP00000248437:p.Asp218His		219824013	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335962	0.60853	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	T;T;T	0.70869	-0.52;-0.52;-0.52	5.44	5.44	0.79542	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	L	0.51853	1.615	0.80722	D	1	P	0.43662	0.814	P	0.60012	0.867	T	0.81088	-0.1091	10	0.87932	D	0	.	19.4628	0.94924	0.0:1.0:0.0:0.0	.	218	P68366	TBA4A_HUMAN	H	218;203;65	ENSP00000248437:D218H;ENSP00000375938:D203H;ENSP00000396212:D65H	ENSP00000248437:D218H	D	-	1	0	TUBA4A	219824013	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.808000	0.69165	2.837000	0.97791	0.655000	0.94253	GAC		0.542	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		G	220115769	C	G	220115769	3	3	96	1	0	0	0	0	1	0	0	0	16749	913	32	3	698	3	TUBA4A	2	220115769	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	18641644	220115769	23083604	26	5118											
UGT1A10	54575	genome.wustl.edu	37	2	234545279	234545279	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr2:234545279C>G	ENST00000344644.5	+	1	180	c.111C>G	c.(109-111)caC>caG	p.H37Q	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.H37Q	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	37					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.H37Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	ATGGGAGTCACTGGTTCACCA	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											98	84	89					2																	234545279		2203	4298	6501	234210018	SO:0001583	missense	54575			U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.111C>G	2.37:g.234545279C>G	ENSP00000343838:p.His37Gln		234210018	O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.778767	0.70107	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.75367	-0.93;-0.93	3.83	3.83	0.44106	.	.	.	.	.	D	0.88811	0.6538	H	0.95504	3.68	0.42411	D	0.992602	D;D	0.89917	0.999;1.0	D;D	0.81914	0.992;0.995	D	0.91012	0.4850	9	0.72032	D	0.01	.	11.0627	0.47957	0.0:0.9074:0.0:0.0926	.	37;37	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	Q	37	ENSP00000343838:H37Q;ENSP00000362544:H37Q	ENSP00000343838:H37Q	H	+	3	2	UGT1A10	234210018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.179000	0.31993	2.157000	0.67596	0.537000	0.68136	CAC		0.557	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		G	234545279	C	G	234545279	3	3	96	1	0	0	0	0	1	0	0	0	16945	564	20	3	113	3	UGT1A10	2	234545279	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	14429510	234545279	8654094	27	5119											
CRELD1	78987	genome.wustl.edu	37	3	9985176	9985176	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr3:9985176T>A	ENST00000383811.3	+	9	1624	c.1025T>A	c.(1024-1026)aTc>aAc	p.I342N	CRELD1_ENST00000397170.3_Missense_Mutation_p.I342N|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000326434.5_Missense_Mutation_p.I342N|CRELD1_ENST00000452070.1_Missense_Mutation_p.I342N	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	342	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.I342N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						ATGGAAGGCATCTGTGTGAAG	0.592																																																1	Substitution - Missense(1)	ovary(1)	3											118	117	117					3																	9985176		2203	4300	6503	9960176	SO:0001583	missense	78987			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.1025T>A	3.37:g.9985176T>A	ENSP00000373322:p.Ile342Asn		9960176	A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	T	9.904	1.207572	0.22205	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434;ENST00000435417	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	4.96	1.38	0.22167	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.678460	0.14460	N	0.318255	T	0.65995	0.2745	N	0.02296	-0.605	0.22127	N	0.999341	B;D	0.53151	0.002;0.958	B;P	0.45506	0.023;0.483	T	0.61227	-0.7105	9	.	.	.	-2.0E-4	0.7341	0.00962	0.1477:0.2098:0.2314:0.411	.	342;342	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	N	342;342;342;342;98	ENSP00000380355:I342N;ENSP00000373322:I342N;ENSP00000393643:I342N;ENSP00000321856:I342N	.	I	+	2	0	CRELD1	9960176	0.942000	0.31987	0.278000	0.24718	0.707000	0.40811	1.666000	0.37460	0.272000	0.22027	0.459000	0.35465	ATC		0.592	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		A	9985176	T	A	9985176	3	1	96	1	0	0	0	0	1	0	0	0	3866	1435	50	5	1059	5	CRELD1	3	9985176	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09		9985176	188037254	28	5120											
IFT57	55081	genome.wustl.edu	37	3	107932813	107932813	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr3:107932813C>T	ENST00000264538.3	-	4	797	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)	p.E184K(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AATGTTAATTCTGCATCATCT	0.323																																																1	Substitution - Missense(1)	ovary(1)	3											229	213	218					3																	107932813		2202	4297	6499	109415503	SO:0001583	missense	55081			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"Intraflagellar transport homologs"	17367	protein-coding gene	gene with protein product		606621	"estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)"	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.550G>A	3.37:g.107932813C>T	ENSP00000264538:p.Glu184Lys		109415503	Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	C	36	5.634079	0.96682	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.77	5.77	0.91146	.	0.046260	0.85682	D	0.000000	T	0.79793	0.4507	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.78814	-0.2056	9	0.48119	T	0.1	.	19.9869	0.97352	0.0:1.0:0.0:0.0	.	184	Q9NWB7	IFT57_HUMAN	K	184	.	ENSP00000264538:E184K	E	-	1	0	IFT57	109415503	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.285000	0.78660	2.722000	0.93159	0.655000	0.94253	GAA		0.323	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		T	107932813	C	T	107932813	3	4	96	1	0	0	0	0	1	0	0	0	7562	922	32	2	771	2	IFT57	3	107932813	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	97947637	107932813	90089617	29	5121											
MYLK	4638	genome.wustl.edu	37	3	123426709	123426709	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr3:123426709A>T	ENST00000475616.1	-	13	2281	c.2282T>A	c.(2281-2283)cTc>cAc	p.L761H	MYLK_ENST00000360772.3_Missense_Mutation_p.L761H|MYLK_ENST00000359169.1_Missense_Mutation_p.L761H|MYLK_ENST00000360304.3_Missense_Mutation_p.L761H|MYLK_ENST00000346322.5_Missense_Mutation_p.L692H			Q15746	MYLK_HUMAN	myosin light chain kinase	761	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.L761H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCTTTGCAGAGGGCTTTGCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											70	61	64					3																	123426709		2203	4300	6503	124909399	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2282T>A	3.37:g.123426709A>T	ENSP00000418335:p.Leu761His		124909399	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898904	0.72754	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	4.99	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86657	0.5985	H	0.94503	3.545	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.76071	0.971;0.987;0.971;0.975;0.983	D	0.88931	0.3373	9	0.87932	D	0	.	9.3662	0.38226	0.9202:0.0:0.0798:0.0	.	761;692;761;692;761	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	H	761;761;761;692;761	ENSP00000354004:L761H;ENSP00000353452:L761H;ENSP00000352088:L761H;ENSP00000320622:L692H;ENSP00000418335:L761H	ENSP00000320622:L692H	L	-	2	0	MYLK	124909399	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.755000	0.74914	2.099000	0.63709	0.533000	0.62120	CTC		0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		T	123426709	A	T	123426709	3	4	96	1	0	0	0	0	1	0	0	0	10056	304	11	5	3538	5	MYLK	3	123426709	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	15493896	123426709	74595721	30	5122											
SLC12A8	84561	genome.wustl.edu	37	3	124909320	124909320	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	G	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr3:124909320T>G	ENST00000393469.4	-	2	146	c.97A>C	c.(97-99)Atg>Ctg	p.M33L	SLC12A8_ENST00000469902.1_Missense_Mutation_p.M33L|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.M62L	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	33					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.M33L(1)		endometrium(2)|kidney(2)|lung(12)	16						GGCTCCCACATGAACAGCTGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											132	142	139					3																	124909320		2040	4197	6237	126392010	SO:0001583	missense	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.97A>C	3.37:g.124909320T>G	ENSP00000377112:p.Met33Leu		126392010	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038695	0.35989	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000462437	D;D;D;D	0.95272	-2.21;-2.21;-2.21;-3.66	5.03	1.25	0.21368	.	.	.	.	.	D	0.87341	0.6153	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.74551	-0.3628	9	0.25106	T	0.35	.	8.5487	0.33438	0.0:0.6188:0.0:0.3812	.	62;33	A0AV02-2;A0AV02	.;S12A8_HUMAN	L	33;62;33;1	ENSP00000377112:M33L;ENSP00000404243:M62L;ENSP00000418783:M33L;ENSP00000418636:M1L	ENSP00000377112:M33L	M	-	1	0	SLC12A8	126392010	0.374000	0.25081	0.602000	0.28890	0.667000	0.39255	0.405000	0.21015	-0.160000	0.11002	-0.735000	0.03563	ATG		0.582	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		G	124909320	T	G	124909320	3	3	96	1	0	0	0	0	1	0	0	0	14392	1464	51	5	2095	5	SLC12A8	3	124909320	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09	1482611	124909320	73113110	31	5123											
KCNAB1	7881	genome.wustl.edu	37	3	155838589	155838589	+	Silent	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr3:155838589G>T	ENST00000490337.1	+	1	253	c.189G>T	c.(187-189)ctG>ctT	p.L63L	KCNAB1_ENST00000389636.5_Silent_p.L63L	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	63					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.L63L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGCTCTGCTGCGCGAAGTGG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	3											60	56	58					3																	155838589		2203	4300	6503	157321283	SO:0001819	synonymous_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.189G>T	3.37:g.155838589G>T			157321283	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	CCDS3174.1																																																																																				0.577	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		T	155838589	G	T	155838589	2	4	96	1	0	0	0	0	0	0	0	1	8009	1306	46	3		3	KCNAB1	3	155838589	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09	30929269	155838589	42183841	32	5124											
SLC7A14	57709	genome.wustl.edu	37	3	170244654	170244654	+	Silent	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr3:170244654G>T	ENST00000231706.5	-	2	387	c.72C>A	c.(70-72)tcC>tcA	p.S24S	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	24					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.S24S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GTAGGATCCTGGAGTGCATTG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	3											139	112	121					3																	170244654		2203	4300	6503	171727348	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.72C>A	3.37:g.170244654G>T			171727348	B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																				0.592	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		T	170244654	G	T	170244654	2	4	96	1	0	0	0	0	0	0	0	1	14699	1335	47	3		3	SLC7A14	3	170244654	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09	14406065	170244654	27777776	33	5125											
CCDC39	339829	genome.wustl.edu	37	3	180377524	180377524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr3:180377524C>A	ENST00000442201.2	-	5	669	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	CCDC39_ENST00000273654.4_Nonsense_Mutation_p.E268*	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	184					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E268*(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGATTACATTCCAAAGTTAGT	0.289																																																1	Substitution - Nonsense(1)	ovary(1)	3											146	137	139					3																	180377524		1818	4078	5896	181860218	SO:0001587	stop_gained	339829			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.550G>T	3.37:g.180377524C>A	ENSP00000405708:p.Glu184*		181860218	B4E2H1	Nonsense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	42	9.544725	0.99201	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.87	5.87	0.94306	.	0.139600	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-25.7666	16.8816	0.86064	0.0:0.808:0.192:0.0	.	.	.	.	X	268;184	.	ENSP00000273654:E268X	E	-	1	0	CCDC39	181860218	1.000000	0.71417	0.999000	0.59377	0.072000	0.16883	3.373000	0.52394	2.784000	0.95788	0.585000	0.79938	GAA		0.289	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		A	180377524	C	A	180377524	4	1	96	1	0	0	0	0	0	1	0	0	2811	864	30	3	2339	3	CCDC39	3	180377524	Nonsense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	10132870	180377524	17644906	34	5126											
ATP11B	23200	genome.wustl.edu	37	3	182584208	182584208	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr3:182584208G>T	ENST00000323116.5	+	14	1856	c.1596G>T	c.(1594-1596)aaG>aaT	p.K532N		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	532					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K532N(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAGATGAAAAGGCTCTAGTAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	3											87	86	86					3																	182584208		2203	4300	6503	184066902	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1596G>T	3.37:g.182584208G>T	ENSP00000321195:p.Lys532Asn		184066902	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.255725|2.255725	0.39896|0.39896	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116|ENST00000498086	T|.	0.63096|.	-0.02|.	5.28|5.28	-0.841|-0.841	0.10752|0.10752	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67850|0.67850	0.2937|0.2937	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.995|.	T|T	0.66093|0.66093	-0.6009|-0.6009	10|5	0.38643|.	T|.	0.18|.	.|.	11.7688|11.7688	0.51945|0.51945	0.3332:0.0:0.6668:0.0|0.3332:0.0:0.6668:0.0	.|.	106;532|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	N|M	532|333	ENSP00000321195:K532N|.	ENSP00000321195:K532N|.	K|R	+|+	3|2	2|0	ATP11B|ATP11B	184066902|184066902	0.725000|0.725000	0.28048|0.28048	0.967000|0.967000	0.41034|0.41034	0.156000|0.156000	0.22039|0.22039	-0.130000|-0.130000	0.10498|0.10498	-0.146000|-0.146000	0.11274|0.11274	-0.225000|-0.225000	0.12378|0.12378	AAG|AGG		0.388	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		T	182584208	G	T	182584208	3	4	96	1	0	0	0	0	1	0	0	0	1120	991	35	3	1650	3	ATP11B	3	182584208	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	2206684	182584208	15438222	35	5127											
CTBP1	1487	genome.wustl.edu	37	4	1207364	1207364	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr4:1207364G>T	ENST00000290921.6	-	7	1104	c.923C>A	c.(922-924)cCc>cAc	p.P308H	CTBP1_ENST00000382952.3_Missense_Mutation_p.P297H	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	308	Interaction with GLIS2 2. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P308H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GATGAGGTTGGGTGCATCCTT	0.632																																																1	Substitution - Missense(1)	ovary(1)	4											85	69	75					4																	1207364		2203	4300	6503	1197364	SO:0001583	missense	1487			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.923C>A	4.37:g.1207364G>T	ENSP00000290921:p.Pro308His		1197364	Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647089	0.67358	.	.	ENSG00000159692	ENST00000382952;ENST00000290921	D;D	0.82619	-1.63;-1.63	4.48	3.62	0.41486	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	M	0.81682	2.555	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.67725	0.953;0.932	D	0.90848	0.4729	10	0.72032	D	0.01	-26.7294	13.6493	0.62301	0.0:0.0:0.8438:0.1562	.	308;297	Q13363;Q7Z2Q5	CTBP1_HUMAN;.	H	297;308	ENSP00000372411:P297H;ENSP00000290921:P308H	ENSP00000290921:P308H	P	-	2	0	CTBP1	1197364	1.000000	0.71417	0.929000	0.37066	0.572000	0.35998	8.932000	0.92897	0.853000	0.35312	0.591000	0.81541	CCC		0.632	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		T	1207364	G	T	1207364	3	4	96	1	0	0	0	0	1	0	0	0	3997	1232	43	3	411	3	CTBP1	4	1207364	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09		1207364	189946912	36	5128											
SORCS2	57537	genome.wustl.edu	37	4	7705920	7705920	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr4:7705920G>A	ENST00000507866.2	+	14	1886	c.1777G>A	c.(1777-1779)Ggc>Agc	p.G593S	SORCS2_ENST00000329016.9_Missense_Mutation_p.G421S	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	593					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G443S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGGACGAGGGCCTCACCTG	0.632																																																1	Substitution - Missense(1)	ovary(1)	4											48	56	53					4																	7705920		2134	4223	6357	7756820	SO:0001583	missense	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1777G>A	4.37:g.7705920G>A	ENSP00000422185:p.Gly593Ser		7756820	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771274	0.69992	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.48522	0.81;0.81	3.61	3.61	0.41365	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.73760	0.3628	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81642	-0.0840	10	0.87932	D	0	.	14.5317	0.67931	0.0:0.0:1.0:0.0	.	421;593	B5MED8;Q96PQ0	.;SORC2_HUMAN	S	593;421	ENSP00000422185:G593S;ENSP00000329124:G421S	ENSP00000329124:G421S	G	+	1	0	SORCS2	7756820	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	7.813000	0.86123	1.994000	0.58287	0.650000	0.86243	GGC		0.632	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		A	7705920	G	A	7705920	3	1	96	1	0	0	0	0	1	0	0	0	14934	1232	43	2	1831	2	SORCS2	4	7705920	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	6498556	7705920	183448356	37	5129											
POLR2B	5431	genome.wustl.edu	37	4	57883852	57883852	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr4:57883852A>T	ENST00000381227.1	+	17	2694	c.2281A>T	c.(2281-2283)Aca>Tca	p.T761S	POLR2B_ENST00000314595.5_Missense_Mutation_p.T761S|POLR2B_ENST00000431623.2_Missense_Mutation_p.T686S|POLR2B_ENST00000441246.2_Missense_Mutation_p.T754S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	761					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.T761S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACTTGTGACTACACGGTCTAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	4											119	105	110					4																	57883852		2203	4300	6503	57578609	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2281A>T	4.37:g.57883852A>T	ENSP00000370625:p.Thr761Ser		57578609	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.030032	0.93575	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.23	5.23	0.72850	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86021	0.1507	10	0.54805	T	0.06	.	15.1017	0.72284	1.0:0.0:0.0:0.0	.	686;761	C9J4M6;P30876	.;RPB2_HUMAN	S	761;686;754;761	ENSP00000370625:T761S;ENSP00000391096:T686S;ENSP00000391452:T754S;ENSP00000312735:T761S	ENSP00000312735:T761S	T	+	1	0	POLR2B	57578609	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.164000	0.94755	1.972000	0.57404	0.379000	0.24179	ACA		0.433	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		T	57883852	A	T	57883852	3	4	96	1	0	0	0	0	1	0	0	0	12215	391	14	5	2343	5	POLR2B	4	57883852	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	50177932	57883852	133270424	38	5130											
UGT2B15	7367	genome.wustl.edu	37	4	69433615	69433615	+	Silent	SNP	A	A	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr4:69433615A>G	ENST00000317746.2	-	1	630	c.588T>C	c.(586-588)ccT>ccC	p.P196P		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	196					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.P196P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ACATAACAACAGGTACATAGG	0.363																																					Melanoma(18;649 833 28984 37818 38500)											1	Substitution - coding silent(1)	ovary(1)	4											100	96	97					4																	69433615		2088	3929	6017	69116210	SO:0001819	synonymous_variant	7367			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.588T>C	4.37:g.69433615A>G			69116210		Silent	SNP	ENST00000317746.2	37	CCDS3523.1																																																																																				0.363	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		G	69433615	A	G	69433615	2	3	96	1	0	0	0	0	0	0	0	1	16958	175	7	4		4	UGT2B15	4	69433615	Silent	SNP	A	TCGA-13-0887-01A-01W-0421-09	11549763	69433615	121720661	39	5131											
LRBA	987	genome.wustl.edu	37	4	151271167	151271167	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr4:151271167T>C	ENST00000357115.3	-	49	7615	c.7372A>G	c.(7372-7374)Ata>Gta	p.I2458V	LRBA_ENST00000507224.1_Missense_Mutation_p.I2447V|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.I2447V|LRBA_ENST00000535741.1_Missense_Mutation_p.I2447V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2458	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I2458V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGATCAGTTATTGAATTCAGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	4											107	98	101					4																	151271167		2203	4300	6503	151490617	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7372A>G	4.37:g.151271167T>C	ENSP00000349629:p.Ile2458Val		151490617	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291507	0.40494	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.47	5.47	0.80525	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.50463	0.1617	L	0.41632	1.29	0.58432	D	0.999998	B;B;B	0.20780	0.048;0.001;0.0	B;B;B	0.17979	0.02;0.007;0.001	T	0.46091	-0.9216	10	0.27785	T	0.31	.	9.9763	0.41786	0.0:0.0758:0.0:0.9242	.	2458;2447;348	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	V	2447;2447;2458;2447	ENSP00000446299:I2447V;ENSP00000421552:I2447V;ENSP00000349629:I2458V;ENSP00000422180:I2447V	ENSP00000349629:I2458V	I	-	1	0	LRBA	151490617	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.040000	0.89188	2.078000	0.62432	0.383000	0.25322	ATA		0.403	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			C	151271167	T	C	151271167	3	2	96	1	0	0	0	0	1	0	0	0	8931	1493	52	4	1259	4	LRBA	4	151271167	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09	81837552	151271167	39883109	40	5132											
CTNND2	1501	genome.wustl.edu	37	5	11397167	11397167	+	Silent	SNP	T	T	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr5:11397167T>C	ENST00000304623.8	-	6	777	c.588A>G	c.(586-588)cgA>cgG	p.R196R	CTNND2_ENST00000359640.2_Silent_p.R196R|CTNND2_ENST00000511377.1_Silent_p.R105R|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	196					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R196R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCCCGTAGCTCGGGCTTGTG	0.617																																																1	Substitution - coding silent(1)	ovary(1)	5											99	101	100					5																	11397167		2203	4300	6503	11450167	SO:0001819	synonymous_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.588A>G	5.37:g.11397167T>C			11450167	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																				0.617	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		C	11397167	T	C	11397167	2	2	96	1	0	0	0	0	0	0	0	1	4020	1538	54	4		4	CTNND2	5	11397167	Silent	SNP	T	TCGA-13-0887-01A-01W-0421-09		11397167	169518093	41	5133											
CDH6	1004	genome.wustl.edu	37	5	31267705	31267705	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr5:31267705G>C	ENST00000265071.2	+	2	390	c.125G>C	c.(124-126)gGa>gCa	p.G42A	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	42					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G42A(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGCTCTCTGGAAACAGCAAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	5											105	112	110					5																	31267705		2203	4300	6503	31303462	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.125G>C	5.37:g.31267705G>C	ENSP00000265071:p.Gly42Ala		31303462	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299911	0.40694	.	.	ENSG00000113361	ENST00000265071	T	0.56444	0.46	5.8	4.92	0.64577	.	0.304500	0.36815	N	0.002387	T	0.46405	0.1391	L	0.54323	1.7	0.32926	D	0.516518	B;B	0.11235	0.0;0.004	B;B	0.15052	0.003;0.012	T	0.54596	-0.8270	10	0.36615	T	0.2	.	9.9926	0.41881	0.0722:0.1443:0.7835:0.0	.	42;42	P55285;P55285-2	CADH6_HUMAN;.	A	42	ENSP00000265071:G42A	ENSP00000265071:G42A	G	+	2	0	CDH6	31303462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.540000	0.60664	1.420000	0.47138	0.655000	0.94253	GGA		0.493	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		C	31267705	G	C	31267705	3	2	96	1	0	0	0	0	1	0	0	0	3114	1174	41	3	127	3	CDH6	5	31267705	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	19870538	31267705	149647555	42	5134											
EGFLAM	133584	genome.wustl.edu	37	5	38438523	38438523	+	Silent	SNP	C	C	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr5:38438523C>T	ENST00000354891.3	+	17	2776	c.2430C>T	c.(2428-2430)tgC>tgT	p.C810C	EGFLAM_ENST00000322350.5_Silent_p.C810C|EGFLAM_ENST00000336740.6_Silent_p.C576C|EGFLAM_ENST00000397202.2_Silent_p.C176C	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	810	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.C810C(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTGTGACTGCCCCTTGGGCT	0.637																																					Colon(62;485 1295 3347 17454)											1	Substitution - coding silent(1)	ovary(1)	5											34	34	34					5																	38438523		2203	4300	6503	38474280	SO:0001819	synonymous_variant	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2430C>T	5.37:g.38438523C>T			38474280	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	CCDS56363.1																																																																																				0.637	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		T	38438523	C	T	38438523	2	4	96	1	0	0	0	0	0	0	0	1	4966	747	26	2		2	EGFLAM	5	38438523	Silent	SNP	C	TCGA-13-0887-01A-01W-0421-09	7170818	38438523	142476737	43	5135											
CD180	4064	genome.wustl.edu	37	5	66480368	66480368	+	Silent	SNP	A	A	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr5:66480368A>G	ENST00000256447.4	-	3	460	c.303T>C	c.(301-303)caT>caC	p.H101H		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	101					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H101H(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGCTTAATTGATGATGGCTTT	0.338																																																1	Substitution - coding silent(1)	ovary(1)	5											100	101	100					5																	66480368		2203	4299	6502	66516124	SO:0001819	synonymous_variant	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.303T>C	5.37:g.66480368A>G			66516124	B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	CCDS3992.1																																																																																				0.338	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		G	66480368	A	G	66480368	2	3	96	1	0	0	0	0	0	0	0	1	2972	330	12	4		4	CD180	5	66480368	Silent	SNP	A	TCGA-13-0887-01A-01W-0421-09	28041845	66480368	114434892	44	5136											
CMYA5	202333	genome.wustl.edu	37	5	79029153	79029153	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr5:79029153T>G	ENST00000446378.2	+	2	4596	c.4565T>G	c.(4564-4566)gTg>gGg	p.V1522G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1522					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.V1522G(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACCTCAGAGGTGTTAGAGCCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	5											100	96	98					5																	79029153		1890	4116	6006	79064909	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4565T>G	5.37:g.79029153T>G	ENSP00000394770:p.Val1522Gly		79064909	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183541	0.38609	.	.	ENSG00000164309	ENST00000446378	T	0.06849	3.25	5.8	-2.79	0.05841	.	0.885835	0.09652	N	0.773592	T	0.13628	0.0330	L	0.47190	1.495	0.09310	N	1	D	0.67145	0.996	P	0.57101	0.813	T	0.20505	-1.0273	10	0.87932	D	0	.	6.9616	0.24599	0.0:0.4239:0.1362:0.4398	.	1522	Q8N3K9	CMYA5_HUMAN	G	1522	ENSP00000394770:V1522G	ENSP00000394770:V1522G	V	+	2	0	CMYA5	79064909	0.000000	0.05858	0.011000	0.14972	0.083000	0.17756	-0.377000	0.07456	-0.339000	0.08401	-0.379000	0.06801	GTG		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79029153	T	G	79029153	3	3	96	1	0	0	0	0	1	0	0	0	3590	1696	59	5	4571	5	CMYA5	5	79029153	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09	12548785	79029153	101886107	45	5137											
CHD1	1105	genome.wustl.edu	37	5	98236762	98236762	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr5:98236762C>A	ENST00000284049.3	-	6	761	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	204					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.K204N(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTCCAAGAATCTTCTTTCCAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	5											83	79	81					5																	98236762		2203	4300	6503	98264662	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.612G>T	5.37:g.98236762C>A	ENSP00000284049:p.Lys204Asn		98264662	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	5.424	0.263461	0.10294	.	.	ENSG00000153922	ENST00000284049	D	0.90324	-2.65	5.64	1.87	0.25490	.	0.000000	0.34879	U	0.003614	T	0.80314	0.4600	N	0.21448	0.665	0.41141	D	0.985955	B	0.02656	0.0	B	0.04013	0.001	T	0.66512	-0.5905	10	0.32370	T	0.25	.	5.6097	0.17398	0.0:0.5142:0.1276:0.3582	.	204	O14646	CHD1_HUMAN	N	204	ENSP00000284049:K204N	ENSP00000284049:K204N	K	-	3	2	CHD1	98264662	1.000000	0.71417	0.981000	0.43875	0.040000	0.13550	0.989000	0.29629	0.122000	0.18314	0.557000	0.71058	AAG		0.318	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		A	98236762	C	A	98236762	3	1	96	1	0	0	0	0	1	0	0	0	3323	912	32	3	4640	3	CHD1	5	98236762	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	19207609	98236762	82678498	46	5138											
EHMT2	10919	genome.wustl.edu	37	6	31864266	31864266	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr6:31864266G>A	ENST00000375537.4	-	4	362	c.356C>T	c.(355-357)tCc>tTc	p.S119F	C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.S176F|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.S176F|EHMT2_ENST00000375530.4_Missense_Mutation_p.S119F	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	119					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.S119F(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTTGCTGGGGGAAGAGGGGAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	6											91	111	104					6																	31864266		1507	2708	4215	31972245	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.356C>T	6.37:g.31864266G>A	ENSP00000364687:p.Ser119Phe		31972245	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947719	0.53186	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	3.31	2.43	0.29744	.	0.323008	0.22789	N	0.055640	T	0.08670	0.0215	N	0.08118	0	0.35124	D	0.767306	B;B;B;B	0.14805	0.001;0.011;0.0;0.0	B;B;B;B	0.15052	0.0;0.012;0.001;0.0	T	0.07366	-1.0776	10	0.72032	D	0.01	.	10.2669	0.43460	0.1057:0.0:0.8943:0.0	.	176;119;119;119	A2ABF8;Q96KQ7-3;Q96KQ7-2;Q96KQ7	.;.;.;EHMT2_HUMAN	F	176;176;119;119	ENSP00000379078:S176F;ENSP00000364678:S176F;ENSP00000364680:S119F;ENSP00000364687:S119F	ENSP00000364678:S176F	S	-	2	0	EHMT2	31972245	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.490000	0.60319	0.963000	0.38082	-0.258000	0.10820	TCC		0.532	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31864266	G	A	31864266	3	1	96	1	0	0	0	0	1	0	0	0	4984	1174	41	2	3376	2	EHMT2	6	31864266	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09		31864266	139250801	47	5139											
ETV7	51513	genome.wustl.edu	37	6	36343687	36343687	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr6:36343687G>T	ENST00000340181.4	-	3	509	c.268C>A	c.(268-270)Ctc>Atc	p.L90I	ETV7_ENST00000339796.5_Missense_Mutation_p.L90I|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Missense_Mutation_p.L90I|ETV7_ENST00000373738.1_Intron	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	90	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L90I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TCCTTGGTGAGGATGCAGAGG	0.647																																																1	Substitution - Missense(1)	ovary(1)	6											125	109	115					6																	36343687		2203	4300	6503	36451665	SO:0001583	missense	51513			AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.268C>A	6.37:g.36343687G>T	ENSP00000341843:p.Leu90Ile		36451665	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666151	0.88251	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737	T;T;T	0.47869	0.83;0.83;0.83	3.38	3.38	0.38709	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.64402	U	0.000002	T	0.60869	0.2302	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	T	0.68123	-0.5492	9	0.62326	D	0.03	.	14.355	0.66730	0.0:0.0:1.0:0.0	.	90;90;90	Q9Y603-7;Q9Y603;Q9Y603-5	.;ETV7_HUMAN;.	I	90	ENSP00000342260:L90I;ENSP00000341843:L90I;ENSP00000362842:L90I	ENSP00000342260:L90I	L	-	1	0	ETV7	36451665	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.007000	0.76335	1.449000	0.47699	0.585000	0.79938	CTC		0.647	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		T	36343687	G	T	36343687	3	4	96	1	0	0	0	0	1	0	0	0	5284	1000	35	3	781	3	ETV7	6	36343687	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	4479421	36343687	134771380	48	5140											
PTCRA	171558	genome.wustl.edu	37	6	42890866	42890866	+	Missense_Mutation	SNP	C	C	A	rs146960695		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr6:42890866C>A	ENST00000304672.1	+	2	241	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	54					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)		p.P54T(1)		large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGATGTTGCACCCCCTGGCCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	6											163	137	146					6																	42890866		2203	4300	6503	42998844	SO:0001583	missense	171558			AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.160C>A	6.37:g.42890866C>A	ENSP00000304447:p.Pro54Thr		42998844	Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	CCDS4874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.355|9.355	1.066522|1.066522	0.20067|0.20067	.|.	.|.	ENSG00000171611|ENSG00000171611	ENST00000418903|ENST00000304672	.|T	.|0.63255	.|-0.03	5.84|5.84	4.03|4.03	0.46877|0.46877	.|Immunoglobulin-like fold (1);	.|0.149520	.|0.31660	.|N	.|0.007274	T|T	0.40196|0.40196	0.1107|0.1107	L|L	0.36672|0.36672	1.1|1.1	0.34888|0.34888	D|D	0.745229|0.745229	.|P	.|0.51057	.|0.941	.|P	.|0.46362	.|0.514	T|T	0.47674|0.47674	-0.9099|-0.9099	6|10	0.87932|0.87932	D|D	0|0	-18.3824|-18.3824	8.2919|8.2919	0.31963|0.31963	0.0:0.7619:0.1551:0.083|0.0:0.7619:0.1551:0.083	.|.	.|54	.|Q6ISU1	.|PTCRA_HUMAN	Q|T	64|54	.|ENSP00000304447:P54T	ENSP00000407061:H64Q|ENSP00000304447:P54T	H|P	+|+	3|1	2|0	PTCRA|PTCRA	42998844|42998844	0.003000|0.003000	0.15002|0.15002	0.021000|0.021000	0.16686|0.16686	0.319000|0.319000	0.28217|0.28217	0.146000|0.146000	0.16180|0.16180	0.774000|0.774000	0.33427|0.33427	0.650000|0.650000	0.86243|0.86243	CAC|CCC		0.607	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		A	42890866	C	A	42890866	3	1	96	1	0	0	0	0	1	0	0	0	12738	507	18	3	166	3	PTCRA	6	42890866	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	6547179	42890866	128224201	49	5141											
RIMS1	22999	genome.wustl.edu	37	6	72975691	72975691	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr6:72975691A>T	ENST00000521978.1	+	22	3337	c.3337A>T	c.(3337-3339)Agg>Tgg	p.R1113W	RIMS1_ENST00000264839.7_Missense_Mutation_p.R1075W|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1049W|RIMS1_ENST00000401910.3_Missense_Mutation_p.R522W|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Missense_Mutation_p.R523W|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1048W|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517827.1_Missense_Mutation_p.R508W|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1049W|RIMS1_ENST00000425662.2_Missense_Mutation_p.R442W	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1113					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R1113W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGACAGGGCTAGGAGTGCTAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											48	46	47					6																	72975691		1874	4111	5985	73032412	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3337A>T	6.37:g.72975691A>T	ENSP00000428417:p.Arg1113Trp		73032412	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537482	0.85917	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000349908;ENST00000264839;ENST00000518273;ENST00000520567;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420	T;T;T;T;T;T;T;T;T;T	0.20200	2.37;2.4;2.42;2.44;2.32;2.4;2.42;2.36;2.36;2.09	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.27489	0.0675	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.994;0.999;0.99;0.994;0.981;0.997;0.999;0.999	D;P;D;P;P;P;P;D;D	0.81914	0.995;0.87;0.993;0.79;0.87;0.865;0.887;0.987;0.994	T	0.02450	-1.1157	10	0.48119	T	0.1	-21.2401	16.1469	0.81577	1.0:0.0:0.0:0.0	.	508;523;508;522;301;1049;302;1049;1113	B7Z3S3;E9PHF5;B7Z9Z3;E9PF48;Q5JY22;E7ERQ1;Q5JY21;C9JNW6;Q86UR5	.;.;.;.;.;.;.;.;RIMS1_HUMAN	W	1049;1075;1049;1049;1075;1049;1048;1113;522;523;442;508;274	ENSP00000430101:R1049W;ENSP00000264839:R1075W;ENSP00000430408:R1049W;ENSP00000430502:R1048W;ENSP00000428417:R1113W;ENSP00000385649:R522W;ENSP00000428328:R523W;ENSP00000411235:R442W;ENSP00000428367:R508W;ENSP00000359448:R274W	ENSP00000264839:R1075W	R	+	1	2	RIMS1	73032412	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.914000	0.75764	2.214000	0.71695	0.519000	0.50382	AGG		0.403	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			T	72975691	A	T	72975691	3	4	96	1	0	0	0	0	1	0	0	0	13370	411	15	5	3586	5	RIMS1	6	72975691	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	30084825	72975691	98139376	50	5142											
PTPRK	5796	genome.wustl.edu	37	6	128297859	128297859	+	Silent	SNP	A	A	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr6:128297859A>T	ENST00000368215.3	-	27	3908	c.3909T>A	c.(3907-3909)tcT>tcA	p.S1303S	PTPRK_ENST00000368226.4_Silent_p.S1304S|PTPRK_ENST00000368207.3_Silent_p.S1336S|PTPRK_ENST00000368210.3_Silent_p.S1322S|PTPRK_ENST00000368213.5_Silent_p.S1310S|PTPRK_ENST00000368227.3_Silent_p.S1321S|PTPRK_ENST00000532331.1_Silent_p.S1326S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1303	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1304S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCATTGAACAAGACATACATT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	6											104	87	93					6																	128297859		2203	4300	6503	128339552	SO:0001819	synonymous_variant	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3909T>A	6.37:g.128297859A>T			128339552	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37																																																																																					0.418	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			T	128297859	A	T	128297859	2	4	96	1	0	0	0	0	0	0	0	1	12808	59	3	5		5	PTPRK	6	128297859	Silent	SNP	A	TCGA-13-0887-01A-01W-0421-09	55322168	128297859	42817208	51	5143											
STK31	56164	genome.wustl.edu	37	7	23810666	23810666	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr7:23810666A>G	ENST00000355870.3	+	14	1875	c.1756A>G	c.(1756-1758)Agt>Ggt	p.S586G	STK31_ENST00000433467.2_Missense_Mutation_p.S586G|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.S563G|STK31_ENST00000354639.3_Missense_Mutation_p.S563G	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	586						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.S586G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATACATATAGTCAAGTACT	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											177	178	177					7																	23810666		2203	4300	6503	23777191	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1756A>G	7.37:g.23810666A>G	ENSP00000348132:p.Ser586Gly		23777191	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768488	0.31320	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.70516	-0.49;1.24;-0.49;-0.49	5.51	4.35	0.52113	.	0.387436	0.30374	N	0.009763	T	0.64136	0.2571	L	0.56769	1.78	0.28170	N	0.928622	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.59648	-0.7415	10	0.54805	T	0.06	-4.5313	8.3064	0.32045	0.8276:0.0:0.1724:0.0	.	586;586	B4DZ06;Q9BXU1	.;STK31_HUMAN	G	586;586;563;563	ENSP00000348132:S586G;ENSP00000411852:S586G;ENSP00000346660:S563G;ENSP00000406146:S563G	ENSP00000346660:S563G	S	+	1	0	STK31	23777191	0.511000	0.26179	0.994000	0.49952	0.994000	0.84299	1.692000	0.37731	0.905000	0.36596	0.528000	0.53228	AGT		0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23810666	A	G	23810666	3	3	96	1	0	0	0	0	1	0	0	0	15298	420	15	4	1810	4	STK31	7	23810666	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09		23810666	135327997	52	5144											
C7orf57	136288	genome.wustl.edu	37	7	48080991	48080991	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr7:48080991C>T	ENST00000348904.3	+	3	328	c.116C>T	c.(115-117)tCc>tTc	p.S39F	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Missense_Mutation_p.S39F|C7orf57_ENST00000430738.1_Missense_Mutation_p.S84F|C7orf57_ENST00000420324.1_Missense_Mutation_p.S84F	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	39								p.S39F(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCACCAGCGTCCCAGATCCCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	7											53	57	55					7																	48080991		1921	4147	6068	48047516	SO:0001583	missense	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.116C>T	7.37:g.48080991C>T	ENSP00000335500:p.Ser39Phe		48047516	C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409868	0.62399	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.84326	2.69	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.75983	-0.3125	10	0.87932	D	0	-19.8225	17.2972	0.87173	0.0:1.0:0.0:0.0	.	39	Q8NEG2	CG057_HUMAN	F	84;84;39;39	ENSP00000394648:S84F;ENSP00000410944:S84F;ENSP00000335500:S39F;ENSP00000442474:S39F	ENSP00000335500:S39F	S	+	2	0	C7orf57	48047516	0.999000	0.42202	0.979000	0.43373	0.239000	0.25481	4.864000	0.62990	2.670000	0.90874	0.563000	0.77884	TCC		0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		T	48080991	C	T	48080991	3	4	96	1	0	0	0	0	1	0	0	0	2404	855	30	2	122	2	C7orf57	7	48080991	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	24270325	48080991	111057672	53	5145											
AKAP9	10142	genome.wustl.edu	37	7	91722506	91722506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr7:91722506G>T	ENST00000359028.2	+	39	9691	c.9466G>T	c.(9466-9468)Gag>Tag	p.E3156*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E3152*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E3102*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3156					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E3152*(1)|p.E3156*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGAACTGCAGGAGCAGCTGAG	0.433			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Nonsense(2)	ovary(2)	7											102	97	99					7																	91722506		2203	4300	6503	91560442	SO:0001587	stop_gained	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9466G>T	7.37:g.91722506G>T	ENSP00000351922:p.Glu3156*		91560442	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	51	17.974472	0.99897	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.77	5.77	0.91146	.	0.000000	0.40640	N	0.001042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	3152;3156;3102;3156;998	.	ENSP00000348573:E3152X	E	+	1	0	AKAP9	91560442	1.000000	0.71417	0.996000	0.52242	0.367000	0.29736	6.355000	0.73041	2.885000	0.99019	0.655000	0.94253	GAG		0.433	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91722506	G	T	91722506	4	4	96	1	0	0	0	0	0	1	0	0	459	1175	41	3	9608	3	AKAP9	7	91722506	Nonsense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	43641515	91722506	67416157	54	5146											
ZSCAN21	7589	genome.wustl.edu	37	7	99661412	99661412	+	Splice_Site	SNP	T	T	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr7:99661412T>A	ENST00000292450.4	+	4	758	c.594T>A	c.(592-594)gaT>gaA	p.D198E	ZSCAN21_ENST00000543588.1_Splice_Site_p.D198E|ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000456748.2_Splice_Site_p.D198E	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	198					positive regulation of transcription, DNA-templated (GO:0045893)|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.D198E(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTGTTTCAGATTGCAGATTGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											62	64	64					7																	99661412		2203	4300	6503	99499348	SO:0001630	splice_region_variant	7589			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.593-1T>A	7.37:g.99661412T>A			99499348	A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	T	7.497	0.651862	0.14516	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000379635	T;T;T	0.05025	4.38;3.51;4.38	4.79	4.79	0.61399	.	0.424791	0.17490	N	0.172385	T	0.04318	0.0119	N	0.24115	0.695	0.27734	N	0.944715	B;B	0.29432	0.083;0.244	B;B	0.25506	0.023;0.061	T	0.27739	-1.0065	10	0.06757	T	0.87	.	12.3465	0.55124	0.0:0.0:0.0:1.0	.	198;198	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	E	198;198;198;173	ENSP00000441212:D198E;ENSP00000292450:D198E;ENSP00000390960:D198E	ENSP00000292450:D198E	D	+	3	2	ZSCAN21	99499348	0.403000	0.25319	0.625000	0.29200	0.370000	0.29829	0.955000	0.29188	2.016000	0.59253	0.533000	0.62120	GAT		0.418	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914	Missense_Mutation	A	99661412	T	A	99661412	5	1	96	1	0	0	0	0	0	0	1	0	18233	1507	52	5	604	5	ZSCAN21	7	99661412	Splice_Site	SNP	T	TCGA-13-0887-01A-01W-0421-09	7938906	99661412	59477251	55	5147											
ST7	7982	genome.wustl.edu	37	7	116774178	116774178	+	Splice_Site	SNP	A	A	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr7:116774178A>T	ENST00000265437.5	+	7	856	c.642A>T	c.(640-642)gaA>gaT	p.E214D	ST7_ENST00000393451.3_Intron|ST7-AS2_ENST00000432541.1_RNA|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000393444.3_Intron|ST7_ENST00000432298.1_Splice_Site_p.E168D|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000323984.3_Splice_Site_p.E214D|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000393443.1_Intron|ST7_ENST00000393447.4_Splice_Site_p.E171D|ST7_ENST00000422922.1_Intron|ST7_ENST00000465133.1_Intron|ST7_ENST00000393449.1_Splice_Site_p.E214D|ST7_ENST00000393446.2_Intron	NM_021908.2	NP_068708.1	Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.E214D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		tcttggtcagaattaggtcca	0.398																																																1	Substitution - Missense(1)	ovary(1)	7											93	93	93					7																	116774178		2203	4299	6502	116561414	SO:0001630	splice_region_variant	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000265437.5:c.642-1A>T	7.37:g.116774178A>T			116561414	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000265437.5	37	CCDS5770.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781905	0.31502	.	.	ENSG00000004866	ENST00000265437;ENST00000323984;ENST00000393449;ENST00000432298;ENST00000393447;ENST00000490039	T;T;T;T;T;T	0.19532	2.2;2.19;2.19;2.2;2.21;2.14	4.55	4.55	0.56014	.	0.042272	0.85682	D	0.000000	T	0.11836	0.0288	N	0.08118	0	0.80722	D	1	B;B;B;B	0.29805	0.011;0.0;0.0;0.257	B;B;B;B	0.36030	0.022;0.002;0.002;0.216	T	0.24119	-1.0169	9	.	.	.	.	10.5774	0.45235	1.0:0.0:0.0:0.0	.	162;171;168;214	C9JU30;B7Z4L1;B7Z4U3;Q9NRC1	.;.;.;ST7_HUMAN	D	214;214;214;168;171;162	ENSP00000265437:E214D;ENSP00000325673:E214D;ENSP00000377095:E214D;ENSP00000411118:E168D;ENSP00000377093:E171D;ENSP00000419516:E162D	.	E	+	3	2	ST7	116561414	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.612000	0.54142	2.276000	0.75962	0.454000	0.30748	GAA		0.398	ST7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141622.1	NM_021908	Missense_Mutation	T	116774178	A	T	116774178	5	4	96	1	0	0	0	0	0	0	1	0	15231	260	9	5	668	5	ST7	7	116774178	Splice_Site	SNP	A	TCGA-13-0887-01A-01W-0421-09	17112766	116774178	42364485	56	5148											
IQUB	154865	genome.wustl.edu	37	7	123152367	123152367	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr7:123152367C>A	ENST00000466202.1	-	2	604	c.28G>T	c.(28-30)Gct>Tct	p.A10S	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.A10S|IQUB_ENST00000324698.6_Missense_Mutation_p.A10S	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	10					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.A10S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATATTCTGAGCTTCATACTTC	0.338																																																1	Substitution - Missense(1)	ovary(1)	7											79	77	78					7																	123152367		2203	4300	6503	122939603	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.28G>T	7.37:g.123152367C>A	ENSP00000417769:p.Ala10Ser		122939603	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	6.224	0.409383	0.11812	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.49139	1.83;1.83;0.79	4.04	-6.9	0.01655	.	5.141830	0.00397	N	0.000040	T	0.27027	0.0662	L	0.27053	0.805	0.09310	N	1	B;B;B	0.16396	0.016;0.017;0.01	B;B;B	0.12837	0.008;0.008;0.004	T	0.08659	-1.0711	10	0.21540	T	0.41	.	1.4905	0.02456	0.2372:0.1674:0.1175:0.4779	.	10;10;10	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	S	10	ENSP00000417769:A10S;ENSP00000324882:A10S;ENSP00000388498:A10S	ENSP00000324882:A10S	A	-	1	0	IQUB	122939603	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.908000	0.01587	-1.647000	0.01511	-1.011000	0.02470	GCT		0.338	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		A	123152367	C	A	123152367	3	1	96	1	0	0	0	0	1	0	0	0	7820	797	28	3	2395	3	IQUB	7	123152367	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	6378189	123152367	35986296	57	5149											
GALNTL5	168391	genome.wustl.edu	37	7	151711779	151711779	+	Silent	SNP	A	A	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr7:151711779A>G	ENST00000392800.2	+	8	1331	c.1077A>G	c.(1075-1077)ggA>ggG	p.G359G	GALNTL5_ENST00000431418.2_Silent_p.G359G	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	359	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.G359G(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTCGAGTAGGACATATCAGTA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	7											159	140	146					7																	151711779		2203	4300	6503	151342712	SO:0001819	synonymous_variant	168391			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1077A>G	7.37:g.151711779A>G			151342712	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Silent	SNP	ENST00000392800.2	37	CCDS5929.1																																																																																				0.398	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		G	151711779	A	G	151711779	2	3	96	1	0	0	0	0	0	0	0	1	6224	262	10	4		4	GALNTL5	7	151711779	Silent	SNP	A	TCGA-13-0887-01A-01W-0421-09	28559412	151711779	7426884	58	5150											
HAS2	3037	genome.wustl.edu	37	8	122641165	122641165	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr8:122641165C>A	ENST00000303924.4	-	2	953	c.416G>T	c.(415-417)gGc>gTc	p.G139V		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	139					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.G139V(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGTCTCTGCCCATGACTTC	0.448																																																1	Substitution - Missense(1)	ovary(1)	8											251	226	234					8																	122641165		2203	4300	6503	122710346	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.416G>T	8.37:g.122641165C>A	ENSP00000306991:p.Gly139Val		122710346	Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641843	0.87859	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.59638	0.25	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.75777	2.31	0.80722	D	1	D	0.54772	0.968	P	0.52066	0.689	T	0.72184	-0.4367	10	0.59425	D	0.04	-16.1531	20.8794	0.99867	0.0:1.0:0.0:0.0	.	139	Q92819	HAS2_HUMAN	V	139	ENSP00000306991:G139V	ENSP00000306991:G139V	G	-	2	0	HAS2	122710346	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.772000	0.85439	2.941000	0.99782	0.655000	0.94253	GGC		0.448	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		A	122641165	C	A	122641165	3	1	96	1	0	0	0	0	1	0	0	0	6962	739	26	3	1254	3	HAS2	8	122641165	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09		122641165	23722857	59	5151											
C9orf79	286234	genome.wustl.edu	37	9	90500353	90500353	+	Silent	SNP	C	C	A	rs201064219		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr9:90500353C>A	ENST00000325643.5	+	4	1017	c.951C>A	c.(949-951)ggC>ggA	p.G317G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	317					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G317G(1)									CCACCTGGGGCCTCTCCACCT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	9											39	43	41					9																	90500353		2203	4300	6503	89690173	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.951C>A	9.37:g.90500353C>A			89690173	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																				0.627	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		A	90500353	C	A	90500353	2	1	96	1	0	0	0	0	0	0	0	1	2497	726	26	3		3	C9orf79	9	90500353	Silent	SNP	C	TCGA-13-0887-01A-01W-0421-09		90500353	50713078	60	5152											
IPPK	64768	genome.wustl.edu	37	9	95400399	95400399	+	Missense_Mutation	SNP	C	C	T	rs150868938		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr9:95400399C>T	ENST00000287996.3	-	9	1076	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	267					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)	p.R267Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CAGCAGCACCCGTGTGATCAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	9						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	43	42	43		800	1.7	0.9	9	dbSNP_134	43	0,8600		0,0,4300	no	missense	IPPK	NM_022755.5	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	267/492	95400399	1,13005	2203	4300	6503	94440220	SO:0001583	missense	64768			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.800G>A	9.37:g.95400399C>T	ENSP00000287996:p.Arg267Gln		94440220	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111522	0.20714	2.27E-4	0.0	ENSG00000127080	ENST00000287996	T	0.29142	1.58	5.11	1.72	0.24424	.	0.536654	0.20746	N	0.086441	T	0.07413	0.0187	N	0.03608	-0.345	0.28375	N	0.919836	P	0.45768	0.866	B	0.30716	0.119	T	0.15178	-1.0446	10	0.15066	T	0.55	-17.6797	3.2612	0.06849	0.4503:0.3445:0.115:0.0901	.	267	Q9H8X2	IPPK_HUMAN	Q	267	ENSP00000287996:R267Q	ENSP00000287996:R267Q	R	-	2	0	IPPK	94440220	0.333000	0.24731	0.858000	0.33744	0.312000	0.27988	1.020000	0.30027	0.651000	0.30788	0.462000	0.41574	CGG		0.667	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		T	95400399	C	T	95400399	3	4	96	1	0	0	0	0	1	0	0	0	7801	652	23	1	695	1	IPPK	9	95400399	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	4900046	95400399	45813032	61	5153											
RAPGEF1	2889	genome.wustl.edu	37	9	134464201	134464201	+	Missense_Mutation	SNP	C	C	A	rs539844465		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr9:134464201C>A	ENST00000372189.3	-	17	2605	c.2482G>T	c.(2482-2484)Ggg>Tgg	p.G828W	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.G846W|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.G845W	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	828					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.G846W(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTGCTACCCCCCGGGCTGCC	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		16942	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9											21	26	25					9																	134464201		2007	4161	6168	133454022	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2482G>T	9.37:g.134464201C>A	ENSP00000361263:p.Gly828Trp		133454022	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.26|17.26	3.344895|3.344895	0.61073|0.61073	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000414781|ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686	.|T;T;T	.|0.30714	.|1.52;1.52;1.52	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.102535|0.102535	0.64402|0.64402	N|D	0.000003|0.000003	T|T	0.46347|0.46347	0.1388|0.1388	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	T|T	0.45527|0.45527	-0.9255|-0.9255	6|10	.|0.72032	.|D	.|0.01	.|.	18.2518|18.2518	0.90006|0.90006	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|828;846	.|Q13905;Q13905-3	.|RPGF1_HUMAN;.	V|W	255|828;845;774;828;846;808;806;273;845	.|ENSP00000361269:G845W;ENSP00000361263:G828W;ENSP00000361264:G846W	.|ENSP00000266110:G828W	G|G	-|-	2|1	0|0	RAPGEF1|RAPGEF1	133454022|133454022	1.000000|1.000000	0.71417|0.71417	0.283000|0.283000	0.24790|0.24790	0.414000|0.414000	0.31173|0.31173	5.676000|5.676000	0.68131|0.68131	2.546000|2.546000	0.85860|0.85860	0.462000|0.462000	0.41574|0.41574	GGG|GGG		0.657	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		A	134464201	C	A	134464201	3	1	96	1	0	0	0	0	1	0	0	0	13046	623	22	3	783	3	RAPGEF1	9	134464201	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	39063802	134464201	6749230	62	5154											
MYST4	23522	genome.wustl.edu	37	10	76788700	76788700	+	Missense_Mutation	SNP	A	A	G	rs373140884		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr10:76788700A>G	ENST00000287239.4	+	18	4607	c.4118A>G	c.(4117-4119)gAa>gGa	p.E1373G	KAT6B_ENST00000372725.1_Missense_Mutation_p.E1081G|KAT6B_ENST00000372711.1_Missense_Mutation_p.E1190G|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1081G|KAT6B_ENST00000372714.1_Missense_Mutation_p.E1081G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1373	Poly-Glu.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1373G(1)									gaagaagaagaaggaggagga	0.448																																																1	Substitution - Missense(1)	ovary(1)	10						A	GLY/GLU	1,4405	2.1+/-5.4	0,1,2202	51	50	50		4118	2.5	0	10		50	0,8600		0,0,4300	no	missense	KAT6B	NM_012330.2	98	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	1373/2074	76788700	1,13005	2203	4300	6503	76458706	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4118A>G	10.37:g.76788700A>G	ENSP00000287239:p.Glu1373Gly		76458706	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.671003	0.00758	2.27E-4	0.0	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78924	1.12;1.12;-1.22;1.12;-1.21	3.69	2.5	0.30297	.	0.141093	0.31963	N	0.006799	T	0.59142	0.2172	N	0.19112	0.55	0.19300	N	0.999979	B;P;B	0.40731	0.275;0.728;0.18	B;B;B	0.36186	0.088;0.219;0.04	T	0.52366	-0.8585	10	0.48119	T	0.1	-2.877	8.4038	0.32603	0.8007:0.1992:0.0:0.0	.	1190;1081;1373	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	G	1081;1081;1373;1081;1190	ENSP00000361810:E1081G;ENSP00000361809:E1081G;ENSP00000287239:E1373G;ENSP00000361799:E1081G;ENSP00000361796:E1190G	ENSP00000287239:E1373G	E	+	2	0	KAT6B	76458706	0.428000	0.25522	0.007000	0.13788	0.001000	0.01503	0.602000	0.24134	0.415000	0.25817	-0.622000	0.04023	GAA		0.448	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		G	76788700	A	G	76788700	3	3	96	1	0	0	0	0	1	0	0	0	10105	246	9	4	4180	4	MYST4	10	76788700	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09		76788700	58746047	63	5155											
SFXN3	81855	genome.wustl.edu	37	10	102796226	102796241	+	Splice_Site	DEL	GGCTTTTCCACCCACA	GGCTTTTCCACCCACA	-	rs376385079		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	GGCTTTTCCACCCACA	GGCTTTTCCACCCACA	GGCTTTTCCACCCACA	-	GGCTTTTCCACCCACA	GGCTTTTCCACCCACA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr10:102796226_102796241delGGCTTTTCCACCCACA	ENST00000224807.5	+	6	899		c.e6-1		SFXN3_ENST00000393459.1_Splice_Site	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3						iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCGTGACCTGGCTTTTCCACCCACAGGCAGCTGGG	0.579																																																1	Unknown(1)	ovary(1)	10																																								102786231	SO:0001630	splice_region_variant	81855			AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"Sideroflexins"	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.444-1GGCTTTTCCACCCACA>-	10.37:g.102796226_102796241delGGCTTTTCCACCCACA			102786216	Q8NCJ0|Q9NTP4	Splice_Site	DEL	ENST00000224807.5	37	CCDS7508.2																																																																																				0.579	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971	Intron	-	102796241	GGCTTTTCCACCCACA	-	102796226	8	5	96	1	0	1	0	1	0	0	1	0	14199	1363	47	0		0	SFXN3	10	102796226	Splice_Site	DEL	GGCTTTTCCACCCACA	TCGA-13-0887-01A-01W-0421-09	26007526	102796226	32738521	64	5156											
BTRC	8945	genome.wustl.edu	37	10	103221777	103221777	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr10:103221777C>T	ENST00000370187.3	+	3	314	c.196C>T	c.(196-198)Cct>Tct	p.P66S	BTRC_ENST00000408038.2_Missense_Mutation_p.P30S|BTRC_ENST00000393441.4_Intron	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	66					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P66S(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGGCGAACCCCCTAGGAAGAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	10											97	103	100					10																	103221777		2203	4300	6503	103211767	SO:0001583	missense	8945			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.196C>T	10.37:g.103221777C>T	ENSP00000359206:p.Pro66Ser		103211767	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048038	0.55110	.	.	ENSG00000166167	ENST00000370187;ENST00000408038;ENST00000370183	T;T	0.61274	0.31;0.12	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000005	T	0.65439	0.2691	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.967	D;P	0.75484	0.986;0.901	T	0.63042	-0.6725	10	0.35671	T	0.21	-12.3347	20.5568	0.99304	0.0:1.0:0.0:0.0	.	30;66	Q9Y297-2;Q9Y297	.;FBW1A_HUMAN	S	66;30;48	ENSP00000359206:P66S;ENSP00000385339:P30S	ENSP00000359202:P48S	P	+	1	0	BTRC	103211767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.664000	0.68045	2.861000	0.98227	0.655000	0.94253	CCT		0.363	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		T	103221777	C	T	103221777	3	4	96	1	0	0	0	0	1	0	0	0	1569	623	22	2	206	2	BTRC	10	103221777	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	425551	103221777	32312970	65	5157											
MGEA5	10724	genome.wustl.edu	37	10	103546267	103546267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr10:103546267C>A	ENST00000361464.3	-	16	3087	c.2692G>T	c.(2692-2694)Gaa>Taa	p.E898*	MGEA5_ENST00000439817.1_Nonsense_Mutation_p.E845*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.E831*|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	898					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.E898*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTTGCAATTTCAAAACATCCT	0.383																																																1	Substitution - Nonsense(1)	ovary(1)	10											118	114	115					10																	103546267		2203	4300	6503	103536257	SO:0001587	stop_gained	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2692G>T	10.37:g.103546267C>A	ENSP00000354850:p.Glu898*		103536257	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Nonsense_Mutation	SNP	ENST00000361464.3	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	42	9.562877	0.99205	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.9422	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	845;898;831	.	ENSP00000350445:E831X	E	-	1	0	MGEA5	103536257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GAA		0.383	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		A	103546267	C	A	103546267	4	1	96	1	0	0	0	0	0	1	0	0	9555	835	29	3	62	3	MGEA5	10	103546267	Nonsense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	324490	103546267	31988480	66	5158											
CCKBR	887	genome.wustl.edu	37	11	6292408	6292408	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr11:6292408G>C	ENST00000334619.2	+	5	1172	c.979G>C	c.(979-981)Gct>Cct	p.A327P	CCKBR_ENST00000525462.1_Missense_Mutation_p.A396P|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.A243P	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	327					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.A327P(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAAGCTGCTGGCTAAGAAGCG	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											135	113	121					11																	6292408		2200	4296	6496	6248984	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.979G>C	11.37:g.6292408G>C	ENSP00000335544:p.Ala327Pro		6248984	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677974	0.88445	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.73258	-0.73;-0.73;-0.73	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	M	0.90759	3.145	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.998	D	0.89552	0.3800	10	0.72032	D	0.01	.	16.7176	0.85400	0.0:0.0:1.0:0.0	.	396;261;327	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	P	327;243;396	ENSP00000335544:A327P;ENSP00000432079:A243P;ENSP00000435534:A396P	ENSP00000335544:A327P	A	+	1	0	CCKBR	6248984	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	9.595000	0.98260	2.513000	0.84729	0.557000	0.71058	GCT		0.612	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		C	6292408	G	C	6292408	3	2	96	1	0	0	0	0	1	0	0	0	2881	1203	42	3	997	3	CCKBR	11	6292408	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09		6292408	128714108	67	5159											
STK33	65975	genome.wustl.edu	37	11	8486290	8486290	+	Missense_Mutation	SNP	G	G	A	rs199852553		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr11:8486290G>A	ENST00000447869.1	-	3	1337	c.419C>T	c.(418-420)aCg>aTg	p.T140M	STK33_ENST00000396672.1_Missense_Mutation_p.T140M|STK33_ENST00000534493.1_Missense_Mutation_p.T99M|STK33_ENST00000358872.3_De_novo_Start_InFrame|STK33_ENST00000396673.1_Missense_Mutation_p.T140M|STK33_ENST00000315204.1_Missense_Mutation_p.T140M			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T140M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGCCCACTTCGTTTCTGTTTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	11						G	MET/THR	0,4402		0,0,2201	345	280	302		419	3.1	1	11		302	1,8589	1.2+/-3.3	0,1,4294	no	missense	STK33	NM_030906.2	81	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	140/515	8486290	1,12991	2201	4295	6496	8442866	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.419C>T	11.37:g.8486290G>A	ENSP00000416750:p.Thr140Met		8442866	Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834610	0.32421	0.0	1.16E-4	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	6.02	3.13	0.36017	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.264388	0.41823	D	0.000810	T	0.45175	0.1329	N	0.25789	0.76	0.18873	N	0.999981	P	0.42483	0.781	B	0.40702	0.338	T	0.36768	-0.9734	10	0.49607	T	0.09	.	6.1542	0.20328	0.2366:0.0:0.6253:0.1382	.	140	Q9BYT3	STK33_HUMAN	M	140;140;140;140;99;99;99;140	ENSP00000416750:T140M;ENSP00000320754:T140M;ENSP00000379905:T140M;ENSP00000379906:T140M;ENSP00000436418:T99M;ENSP00000391362:T99M;ENSP00000411510:T99M;ENSP00000403599:T140M	ENSP00000320754:T140M	T	-	2	0	STK33	8442866	0.443000	0.25641	0.993000	0.49108	0.642000	0.38348	0.230000	0.17852	1.552000	0.49463	0.650000	0.86243	ACG		0.408	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		A	8486290	G	A	8486290	3	1	96	1	0	0	0	0	1	0	0	0	15302	1145	40	1	1165	1	STK33	11	8486290	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	2193882	8486290	126520226	68	5160											
MYO7A	4647	genome.wustl.edu	37	11	76914147	76914147	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr11:76914147G>C	ENST00000409709.3	+	38	5483	c.5211G>C	c.(5209-5211)aaG>aaC	p.K1737N	MYO7A_ENST00000409619.2_Missense_Mutation_p.K1688N|MYO7A_ENST00000458637.2_Missense_Mutation_p.K1699N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1737					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.K1737N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGTGTCCAAGGCCCGAGGCA	0.682																																																1	Substitution - Missense(1)	ovary(1)	11											11	18	15					11																	76914147		1934	3966	5900	76591795	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5211G>C	11.37:g.76914147G>C	ENSP00000386331:p.Lys1737Asn		76591795	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115290	0.56505	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.14	3.26	0.37387	.	0.046728	0.85682	D	0.000000	T	0.74306	0.3699	M	0.80183	2.485	0.38882	D	0.956931	P;P;P	0.51057	0.941;0.868;0.941	P;P;P	0.51582	0.598;0.674;0.474	T	0.71721	-0.4507	10	0.25106	T	0.35	.	7.3837	0.26870	0.1456:0.0:0.7174:0.137	.	1688;1699;1737	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	N	1737;1699;1688;910;1736;1706;1613;879;352	ENSP00000386331:K1737N;ENSP00000392185:K1699N;ENSP00000386635:K1688N;ENSP00000417017:K879N	ENSP00000345075:K1613N	K	+	3	2	MYO7A	76591795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.440000	0.35024	0.576000	0.29452	0.591000	0.81541	AAG		0.682	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		C	76914147	G	C	76914147	3	2	96	1	0	0	0	0	1	0	0	0	10082	991	35	3	5391	3	MYO7A	11	76914147	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	68427857	76914147	58092369	69	5161											
SORL1	6653	genome.wustl.edu	37	11	121391551	121391551	+	Missense_Mutation	SNP	A	A	G	rs377405996		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr11:121391551A>G	ENST00000260197.7	+	9	1526	c.1397A>G	c.(1396-1398)aAt>aGt	p.N466S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	466					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.N466S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAGAAAATCAATTGTGAGGTA	0.393																																																1	Substitution - Missense(1)	ovary(1)	11						A	SER/ASN	0,4406		0,0,2203	48	51	50		1397	4.4	0.9	11		50	1,8597	1.2+/-3.3	0,1,4298	no	missense	SORL1	NM_003105.5	46	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	benign	466/2215	121391551	1,13003	2203	4299	6502	120896761	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1397A>G	11.37:g.121391551A>G	ENSP00000260197:p.Asn466Ser		120896761	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885995	0.33348	0.0	1.16E-4	ENSG00000137642	ENST00000260197	T	0.21932	1.98	5.55	4.42	0.53409	VPS10 (1);	0.429735	0.25405	N	0.030902	T	0.16471	0.0396	L	0.42487	1.325	0.54753	D	0.999983	B	0.18461	0.028	B	0.13407	0.009	T	0.06481	-1.0824	10	0.27082	T	0.32	.	7.4783	0.27390	0.7854:0.1424:0.0721:0.0	.	466	Q92673	SORL_HUMAN	S	466	ENSP00000260197:N466S	ENSP00000260197:N466S	N	+	2	0	SORL1	120896761	0.487000	0.25988	0.934000	0.37439	0.973000	0.67179	4.569000	0.60865	0.929000	0.37192	0.383000	0.25322	AAT		0.393	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		G	121391551	A	G	121391551	3	3	96	1	0	0	0	0	1	0	0	0	14937	101	4	4	1431	4	SORL1	11	121391551	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	44477404	121391551	13614965	70	5162											
CACNA1C	775	genome.wustl.edu	37	12	2788613	2788613	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr12:2788613G>T	ENST00000347598.4	+	44	5239	c.5239G>T	c.(5239-5241)Gcc>Tcc	p.A1747S	CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1718S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1705S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1716S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1699S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1699S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1699S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1699S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1719S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1699S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1718S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1724S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1707S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1699S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1727S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1740S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1699S|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1718S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1699S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1699S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1699S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1707S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1747					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1777S(1)|p.A1234S(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTACAGAGGGCCGGTGGCCT	0.642																																																2	Substitution - Missense(2)	ovary(2)	12											13	15	15					12																	2788613		1961	4157	6118	2658874	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5239G>T	12.37:g.2788613G>T	ENSP00000266376:p.Ala1747Ser		2658874	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	6.744	0.506034	0.12883	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96011	-3.81;-3.82;-3.81;-3.81;-3.81;-3.84;-3.73;-3.77;-3.82;-3.74;-3.74;-3.82;-3.87;-3.74;-3.65;-3.88;-3.83;-3.81;-3.85;-3.75;-3.84;-3.88	4.4	4.4	0.53042	.	0.841365	0.10517	N	0.665439	D	0.96005	0.8699	L	0.35723	1.085	0.40338	D	0.979004	B;D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.71674	0.017;0.996;0.018;0.007;0.998;0.126;0.023;0.126;0.006;0.004;0.126;0.018;0.013;0.073;0.051;0.044;0.084;0.007;0.204;0.006;0.018;0.126;0.126;0.105;0.018	B;D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.80764	0.009;0.923;0.011;0.005;0.994;0.046;0.015;0.046;0.012;0.006;0.046;0.007;0.02;0.046;0.007;0.027;0.022;0.012;0.032;0.02;0.011;0.046;0.032;0.021;0.011	D	0.92324	0.5868	10	0.11794	T	0.64	.	17.178	0.86846	0.0:0.0:1.0:0.0	.	390;1740;1696;1747;1699;1718;1699;1716;1727;1699;1719;1699;1659;1747;1699;1699;1699;1707;1705;1707;1688;1718;1718;1699;1699	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1724;1699;1699;1727;1699;1718;1718;1707;1699;1747;1719;1699;1740;1716;1699;1705;1718;1699;1699;1699;1699;1707;1529	ENSP00000336982:A1724S;ENSP00000382563:A1699S;ENSP00000382552:A1699S;ENSP00000382547:A1727S;ENSP00000382506:A1699S;ENSP00000382530:A1718S;ENSP00000382546:A1718S;ENSP00000382500:A1707S;ENSP00000382549:A1699S;ENSP00000266376:A1747S;ENSP00000382515:A1719S;ENSP00000382510:A1699S;ENSP00000341092:A1740S;ENSP00000382537:A1716S;ENSP00000329877:A1699S;ENSP00000382557:A1705S;ENSP00000385724:A1718S;ENSP00000382512:A1699S;ENSP00000382542:A1699S;ENSP00000382526:A1699S;ENSP00000385896:A1699S;ENSP00000382504:A1707S	ENSP00000323129:A1529S	A	+	1	0	CACNA1C	2658874	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	4.594000	0.61041	2.293000	0.77203	0.313000	0.20887	GCC		0.642	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2788613	G	T	2788613	3	4	96	1	0	0	0	0	1	0	0	0	2540	1203	42	3	5644	3	CACNA1C	12	2788613	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09		2788613	131063282	71	5163											
KIF21A	55605	genome.wustl.edu	37	12	39726178	39726178	+	Silent	SNP	T	T	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr12:39726178T>C	ENST00000361418.5	-	21	2904	c.2889A>G	c.(2887-2889)aaA>aaG	p.K963K	KIF21A_ENST00000544797.2_Silent_p.K950K|KIF21A_ENST00000395670.3_Silent_p.K963K|KIF21A_ENST00000361961.3_Silent_p.K950K|KIF21A_ENST00000541463.2_Silent_p.K927K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	963					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K950K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTTTGAAAGTTTCTCTCGTC	0.373																																																1	Substitution - coding silent(1)	ovary(1)	12											214	200	205					12																	39726178		2203	4299	6502	38012445	SO:0001819	synonymous_variant	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2889A>G	12.37:g.39726178T>C			38012445	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	9.459	1.092554	0.20471	.	.	ENSG00000139116	ENST00000552961	.	.	.	5.67	-3.96	0.04106	.	.	.	.	.	T	0.66567	0.2802	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65356	-0.6188	4	.	.	.	.	17.0843	0.86606	0.0:0.658:0.0:0.342	.	.	.	.	S	311	.	.	N	-	2	0	KIF21A	38012445	0.136000	0.22515	0.892000	0.35008	0.994000	0.84299	-0.515000	0.06290	-1.079000	0.03113	0.455000	0.32223	AAC		0.373	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		C	39726178	T	C	39726178	2	2	96	1	0	0	0	0	0	0	0	1	8288	1722	60	4		4	KIF21A	12	39726178	Silent	SNP	T	TCGA-13-0887-01A-01W-0421-09	36937565	39726178	94125717	72	5164											
BIN2	51411	genome.wustl.edu	37	12	51696508	51696508	+	Missense_Mutation	SNP	C	C	T	rs555115486		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr12:51696508C>T	ENST00000267012.4	-	4	335	c.274G>A	c.(274-276)Gag>Aag	p.E92K	BIN2_ENST00000544402.1_Missense_Mutation_p.E66K|BIN2_ENST00000604560.1_Missense_Mutation_p.E65K|BIN2_ENST00000452142.2_Missense_Mutation_p.E92K	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	92	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.E92K(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCGTCCCACTCGCTGCTGTAG	0.473													C|||	1	0.000199681	8e-04	0	5008	,	,		19510	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12											230	211	217					12																	51696508		2203	4300	6503	49982775	SO:0001583	missense	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.274G>A	12.37:g.51696508C>T	ENSP00000267012:p.Glu92Lys		49982775	Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083528	0.55861	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96745	-4.11;0.01;0.01	5.18	4.23	0.50019	BAR (3);	0.203237	0.40554	N	0.001063	D	0.93736	0.7998	L	0.49126	1.545	0.39639	D	0.970291	B;B;B	0.22211	0.036;0.066;0.045	B;B;B	0.16722	0.009;0.009;0.016	D	0.91658	0.5340	10	0.46703	T	0.11	-6.535	12.5224	0.56067	0.0:0.913:0.0:0.087	.	66;92;92	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	K	92;92;66	ENSP00000410217:E92K;ENSP00000267012:E92K;ENSP00000445874:E66K	ENSP00000267012:E92K	E	-	1	0	BIN2	49982775	1.000000	0.71417	0.947000	0.38551	0.553000	0.35397	4.883000	0.63128	1.226000	0.43582	0.655000	0.94253	GAG		0.473	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			T	51696508	C	T	51696508	3	4	96	1	0	0	0	0	1	0	0	0	1433	893	31	1	1463	1	BIN2	12	51696508	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	11970330	51696508	82155387	73	5165											
DGKA	1606	genome.wustl.edu	37	12	56347170	56347170	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr12:56347170A>T	ENST00000331886.5	+	23	2554	c.2100A>T	c.(2098-2100)gaA>gaT	p.E700D	DGKA_ENST00000551156.1_Missense_Mutation_p.E700D|DGKA_ENST00000394147.1_Missense_Mutation_p.E700D|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	700					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.E700D(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TTGACGGAGAACCCTGGATGC	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											247	241	243					12																	56347170		2203	4300	6503	54633437	SO:0001583	missense	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2100A>T	12.37:g.56347170A>T	ENSP00000328405:p.Glu700Asp		54633437	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266004	0.80358	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	T;T;T	0.61158	0.13;0.13;0.13	4.71	-0.782	0.10961	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	H	0.97214	3.96	0.44523	D	0.997473	D	0.89917	1.0	D	0.97110	1.0	T	0.82161	-0.0594	10	0.87932	D	0	.	10.7645	0.46286	0.4482:0.0:0.5518:0.0	.	700	P23743	DGKA_HUMAN	D	700	ENSP00000328405:E700D;ENSP00000377703:E700D;ENSP00000450359:E700D	ENSP00000328405:E700D	E	+	3	2	DGKA	54633437	1.000000	0.71417	0.990000	0.47175	0.908000	0.53690	0.543000	0.23237	-0.330000	0.08514	0.459000	0.35465	GAA		0.463	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			T	56347170	A	T	56347170	3	4	96	1	0	0	0	0	1	0	0	0	4465	40	2	5	2186	5	DGKA	12	56347170	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	4650662	56347170	77504725	74	5166											
THAP2	83591	genome.wustl.edu	37	12	72058300	72058300	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr12:72058300A>G	ENST00000308086.2	+	1	1512	c.11A>G	c.(10-12)aAt>aGt	p.N4S	ZFC3H1_ENST00000552037.1_5'Flank|THAP2_ENST00000547843.1_Missense_Mutation_p.N4S|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000378743.3_5'Flank|ZFC3H1_ENST00000548100.1_5'Flank	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	4						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N4S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ATGCCGACCAATTGCGCTGCG	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											123	125	124					12																	72058300		2203	4300	6503	70344567	SO:0001583	missense	83591			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"THAP (C2CH-type zinc finger) domain containing"	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.11A>G	12.37:g.72058300A>G	ENSP00000310796:p.Asn4Ser		70344567	B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915085	0.33815	.	.	ENSG00000173451	ENST00000308086;ENST00000547843	D	0.95885	-3.84	5.17	5.17	0.71159	Zinc finger, C2CH-type (3);	0.235594	0.36628	N	0.002489	D	0.89378	0.6698	N	0.00422	-1.515	0.31928	N	0.612562	D	0.69078	0.997	D	0.80764	0.994	D	0.86032	0.1514	10	0.13470	T	0.59	.	11.3256	0.49446	1.0:0.0:0.0:0.0	.	4	Q9H0W7	THAP2_HUMAN	S	4	ENSP00000310796:N4S	ENSP00000310796:N4S	N	+	2	0	THAP2	70344567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.050000	0.41297	2.165000	0.68154	0.533000	0.62120	AAT		0.562	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		G	72058300	A	G	72058300	3	3	96	1	0	0	0	0	1	0	0	0	15844	101	4	4	13	4	THAP2	12	72058300	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	15711130	72058300	61793595	75	5167											
C12orf42	374470	genome.wustl.edu	37	12	103696330	103696330	+	Silent	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr12:103696330G>A	ENST00000378113.2	-	6	864	c.639C>T	c.(637-639)gcC>gcT	p.A213A	C12orf42_ENST00000548883.1_Silent_p.A213A|C12orf42_ENST00000548048.1_Silent_p.A146A|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	213								p.A213A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AAGGTCTGGCGGCAGAACCTG	0.637																																																1	Substitution - coding silent(1)	ovary(1)	12											24	27	26					12																	103696330		1973	4148	6121	102220460	SO:0001819	synonymous_variant	374470			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.639C>T	12.37:g.103696330G>A			102220460	Q49A64|Q4G0S2	Silent	SNP	ENST00000378113.2	37	CCDS44963.1																																																																																				0.637	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		A	103696330	G	A	103696330	2	1	96	1	0	0	0	0	0	0	0	1	1688	1103	39	1		1	C12orf42	12	103696330	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09	31638030	103696330	30155565	76	5168											
NAA25	80018	genome.wustl.edu	37	12	112516501	112516501	+	Silent	SNP	C	C	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr12:112516501C>T	ENST00000261745.4	-	6	770	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	174						cytoplasm (GO:0005737)		p.L174L(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAGCAAGGGGCAGAAACATTG	0.368																																																1	Substitution - coding silent(1)	ovary(1)	12											170	154	159					12																	112516501		2203	4300	6503	111000884	SO:0001819	synonymous_variant	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.522G>A	12.37:g.112516501C>T			111000884	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	8.674	0.903605	0.17760	.	.	ENSG00000111300	ENST00000547133	.	.	.	6.05	-1.67	0.08238	.	.	.	.	.	T	0.41373	0.1156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	-7.5836	2.3184	0.04204	0.3124:0.411:0.1011:0.1754	.	.	.	.	T	136	.	.	A	-	1	0	NAA25	111000884	0.984000	0.35163	0.986000	0.45419	0.998000	0.95712	0.242000	0.18087	-0.326000	0.08564	0.650000	0.86243	GCC		0.368	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		T	112516501	C	T	112516501	2	4	96	1	0	0	0	0	0	0	0	1	10121	697	25	2		2	NAA25	12	112516501	Silent	SNP	C	TCGA-13-0887-01A-01W-0421-09	8820171	112516501	21335394	77	5169											
SLC15A1	6564	genome.wustl.edu	37	13	99360992	99360992	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr13:99360992A>G	ENST00000376503.5	-	15	1152	c.1097T>C	c.(1096-1098)gTc>gCc	p.V366A		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	366					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.V366A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGAGGCCAGGACCATGCCAAC	0.527																																																1	Substitution - Missense(1)	ovary(1)	13											99	75	83					13																	99360992		2203	4300	6503	98158993	SO:0001583	missense	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1097T>C	13.37:g.99360992A>G	ENSP00000365686:p.Val366Ala		98158993	Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374245	0.42105	.	.	ENSG00000088386	ENST00000376503	T	0.04119	3.7	5.32	4.13	0.48395	Major facilitator superfamily domain, general substrate transporter (1);	0.166906	0.53938	D	0.000049	T	0.05960	0.0155	L	0.33624	1.015	0.80722	D	1	B	0.17038	0.02	B	0.28232	0.087	T	0.26292	-1.0107	10	0.66056	D	0.02	-15.9923	12.3878	0.55343	0.8591:0.1409:0.0:0.0	.	366	P46059	S15A1_HUMAN	A	366	ENSP00000365686:V366A	ENSP00000365686:V366A	V	-	2	0	SLC15A1	98158993	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	6.786000	0.75094	0.945000	0.37605	0.533000	0.62120	GTC		0.527	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		G	99360992	A	G	99360992	3	3	96	1	0	0	0	0	1	0	0	0	14401	275	10	4	1065	4	SLC15A1	13	99360992	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09		99360992	15808886	78	5170											
RNASE11	122651	genome.wustl.edu	37	14	21052117	21052117	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr14:21052117T>A	ENST00000610205.1	-	3	700	c.517A>T	c.(517-519)Agt>Tgt	p.S173C	RNASE11_ENST00000398009.2_Missense_Mutation_p.S173C|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173C|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173C|RNASE11_ENST00000398008.2_Missense_Mutation_p.S173C|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173C	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	173						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.S173C(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GAGGTAACACTATGGTATTGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	14											107	89	95					14																	21052117		2203	4300	6503	20121957	SO:0001583	missense	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.517A>T	14.37:g.21052117T>A	ENSP00000476537:p.Ser173Cys		20121957		Missense_Mutation	SNP	ENST00000610205.1	37	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.109588	0.56398	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503	T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.06	-2.45	0.06481	Ribonuclease A, domain (3);	0.766368	0.12270	N	0.483906	T	0.70954	0.3283	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	P	0.62649	0.905	T	0.64080	-0.6491	10	0.62326	D	0.03	-12.3081	8.8942	0.35453	0.0:0.5134:0.0:0.4866	.	173	Q8TAA1	RNS11_HUMAN	C	173	ENSP00000338288:S173C;ENSP00000451318:S173C;ENSP00000451563:S173C;ENSP00000381093:S173C;ENSP00000381092:S173C;ENSP00000395210:S173C;ENSP00000401398:S173C;ENSP00000451839:S173C	ENSP00000338288:S173C	S	-	1	0	RNASE11	20121957	0.046000	0.20272	0.005000	0.12908	0.220000	0.24768	0.907000	0.28531	-0.455000	0.07054	-0.558000	0.04189	AGT		0.443	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		A	21052117	T	A	21052117	3	1	96	1	0	0	0	0	1	0	0	0	13404	1522	53	5	86	5	RNASE11	14	21052117	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09		21052117	86297423	79	5171											
PABPN1	8106	genome.wustl.edu	37	14	23793464	23793464	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr14:23793464G>A	ENST00000216727.4	+	6	1028	c.847G>A	c.(847-849)Ggt>Agt	p.G283S	PABPN1_ENST00000556821.1_Missense_Mutation_p.G155S|AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000397276.2_Missense_Mutation_p.G283S|PABPN1_ENST00000557702.1_Missense_Mutation_p.G155S|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.G310S|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.G310S	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	283	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G283S(1)		large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATTCTACAGTGGTTTTAACAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	14											81	83	82					14																	23793464		2203	4300	6503	22863304	SO:0001583	missense	8106			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.847G>A	14.37:g.23793464G>A	ENSP00000216727:p.Gly283Ser		22863304	D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	CCDS9592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.67|19.67	3.870715|3.870715	0.72065|0.72065	.|.	.|.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836|ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702|ENST00000555295	T;T;T;T;T;T|.	0.60040|.	2.7;2.7;0.22;0.6;2.04;2.08|.	5.47|5.47	4.55|4.55	0.56014|0.56014	.|.	0.111045|.	0.64402|.	D|.	0.000010|.	T|.	0.70211|.	0.3198|.	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999994|0.999994	P;P;P|.	0.52842|.	0.956;0.82;0.879|.	P;B;P|.	0.47528|.	0.549;0.403;0.473|.	T|.	0.69363|.	-0.5165|.	10|.	0.51188|.	T|.	0.08|.	-3.6982|-3.6982	14.933|14.933	0.70933|0.70933	0.0:0.1442:0.8558:0.0|0.0:0.1442:0.8558:0.0	.|.	283;283;310|.	Q86U42;Q86U42-2;G3V5R7|.	PABP2_HUMAN;.;.|.	S|X	310;310;283;283;155;155|82	ENSP00000451320:G310S;ENSP00000452479:G310S;ENSP00000216727:G283S;ENSP00000380446:G283S;ENSP00000451970:G155S;ENSP00000450724:G155S|.	ENSP00000216727:G283S|.	G|W	+|+	1|2	0|0	PABPN1;RP11-124D2.2|PABPN1	22863304|22863304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.898000|5.898000	0.69838|0.69838	1.259000|1.259000	0.44117|0.44117	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.612	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		A	23793464	G	A	23793464	3	1	96	1	0	0	0	0	1	0	0	0	11368	1348	47	2	869	2	PABPN1	14	23793464	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	2741347	23793464	83556076	80	5172											
SYNE2	23224	genome.wustl.edu	37	14	64680986	64680986	+	Silent	SNP	T	T	G			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr14:64680986T>G	ENST00000344113.4	+	106	19343	c.19131T>G	c.(19129-19131)tcT>tcG	p.S6377S	SYNE2_ENST00000555022.1_Silent_p.S255S|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000458046.2_Silent_p.S11S|SYNE2_ENST00000554805.1_Silent_p.S160S|SYNE2_ENST00000554584.1_Silent_p.S6319S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.S3011S|SYNE2_ENST00000357395.3_Silent_p.S2762S|SYNE2_ENST00000394768.2_Silent_p.S2762S|SYNE2_ENST00000358025.3_Silent_p.S6377S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6377					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S6377S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGACTGATTCTTGGCGTAAAC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	14											131	132	132					14																	64680986		2203	4300	6503	63750739	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19131T>G	14.37:g.64680986T>G			63750739	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.537	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64680986	T	G	64680986	2	3	96	1	0	0	0	0	0	0	0	1	15446	1596	56	5		5	SYNE2	14	64680986	Silent	SNP	T	TCGA-13-0887-01A-01W-0421-09	40887522	64680986	42668554	81	5173											
RAGE	5891	genome.wustl.edu	37	14	102695885	102695885	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr14:102695885G>C	ENST00000361847.2	-	11	1322	c.1091C>G	c.(1090-1092)tCc>tGc	p.S364C	MOK_ENST00000523231.1_Silent_p.L58L|MOK_ENST00000524370.1_Silent_p.L58L|MOK_ENST00000519058.1_Silent_p.L58L|MOK_ENST00000524214.1_Missense_Mutation_p.S334C|MOK_ENST00000522867.1_Silent_p.L58L|MOK_ENST00000561150.1_Intron|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000193029.6_Intron|MOK_ENST00000522534.1_Silent_p.L58L|MOK_ENST00000517966.1_Silent_p.L58L|MOK_ENST00000522874.1_Missense_Mutation_p.S363C	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	364					protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S364C(1)									CGTGGGGCTGGAGTAAGACGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	14											93	86	88					14																	102695885		2203	4300	6503	101765638	SO:0001583	missense	5891			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.1091C>G	14.37:g.102695885G>C	ENSP00000355304:p.Ser364Cys		101765638	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.424017	0.43020	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.77098	-0.54;-0.6;-1.07	5.12	3.3	0.37823	.	0.310502	0.31797	N	0.007055	T	0.78742	0.4331	M	0.72118	2.19	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.50231	0.635;0.635	T	0.76187	-0.3051	10	0.48119	T	0.1	-3.2679	7.6313	0.28240	0.0848:0.0:0.7528:0.1624	.	334;364	E7ERR8;Q9UQ07	.;MOK_HUMAN	C	363;364;334	ENSP00000429469:S363C;ENSP00000355304:S364C;ENSP00000428942:S334C	ENSP00000355304:S364C	S	-	2	0	RAGE	101765638	1.000000	0.71417	0.954000	0.39281	0.227000	0.25037	3.721000	0.54941	0.567000	0.29293	0.561000	0.74099	TCC		0.567	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			C	102695885	G	C	102695885	3	2	96	1	0	0	0	0	1	0	0	0	13009	1174	41	3	176	3	RAGE	14	102695885	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	38014899	102695885	4653655	82	5174											
CILP	8483	genome.wustl.edu	37	15	65499322	65499322	+	Silent	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr15:65499322C>A	ENST00000261883.4	-	4	388	c.222G>T	c.(220-222)ctG>ctT	p.L74L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	74					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.L74L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GAATGGCGTCCAGCCGCTCAT	0.617																																																1	Substitution - coding silent(1)	ovary(1)	15											53	43	46					15																	65499322		2201	4299	6500	63286375	SO:0001819	synonymous_variant	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.222G>T	15.37:g.65499322C>A			63286375	B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	CCDS10203.1																																																																																				0.617	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		A	65499322	C	A	65499322	2	1	96	1	0	0	0	0	0	0	0	1	3429	581	21	3		3	CILP	15	65499322	Silent	SNP	C	TCGA-13-0887-01A-01W-0421-09		65499322	37032070	83	5175											
PRSS27	83886	genome.wustl.edu	37	16	2764189	2764190	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	CC	CC	CC	AG	CC	CC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr16:2764189_2764190CC>AG	ENST00000302641.3	-	4	438_439	c.384_385GG>CT	c.(382-387)gtGGag>gtCTag	p.E129*	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GCCTCCAGCTCCACCAGGGCCA	0.639																																																0			16																																								2704191	SO:0001587	stop_gained	83886			AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.384_385delinsAG	16.37:g.2764189_2764190delinsAG	ENSP00000306390:p.Glu129*		2704190		Nonsense_Mutation	DNP	ENST00000302641.3	37	CCDS10476.1																																																																																				0.639	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		AG	2764190	CC	AG	2764189	4	1	96	1	0	0	0	0	0	1	0	0	12624	864	30	3	499	3	PRSS27	16	2764189	Nonsense_Mutation	DNP	CC	TCGA-13-0887-01A-01W-0421-09		2764189	87590564	84	5176											
ABCC1	4363	genome.wustl.edu	37	16	16173319	16173319	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr16:16173319G>C	ENST00000399410.3	+	16	2274	c.2099G>C	c.(2098-2100)gGg>gCg	p.G700A	ABCC1_ENST00000349029.5_Missense_Mutation_p.G700A|ABCC1_ENST00000351154.5_Missense_Mutation_p.G700A|ABCC1_ENST00000346370.5_Missense_Mutation_p.G700A|ABCC1_ENST00000345148.5_Missense_Mutation_p.G700A|ABCC1_ENST00000399408.2_Missense_Mutation_p.G700A	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	700	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G700A(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AAAGTGGAGGGGCACGTGGCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											48	50	49					16																	16173319		2029	4191	6220	16080820	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2099G>C	16.37:g.16173319G>C	ENSP00000382342:p.Gly700Ala		16080820	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662710	0.67700	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08;-4.66	4.77	4.77	0.60923	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	M	0.93241	3.395	0.80722	D	1	P;D;D;D;D;D	0.89917	0.706;1.0;0.999;1.0;1.0;0.999	B;D;D;D;D;D	0.91635	0.422;0.979;0.996;0.999;0.999;0.921	D	0.98708	1.0703	10	0.87932	D	0	-23.0115	16.7985	0.85608	0.0:0.0:1.0:0.0	.	700;700;700;700;700;700	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	A	700;700;700;700;700;700;374	ENSP00000382342:G700A;ENSP00000382340:G700A;ENSP00000263019:G700A;ENSP00000263017:G700A;ENSP00000263014:G700A;ENSP00000263016:G700A	ENSP00000263014:G700A	G	+	2	0	ABCC1	16080820	1.000000	0.71417	0.999000	0.59377	0.359000	0.29487	9.716000	0.98752	2.207000	0.71202	0.563000	0.77884	GGG		0.587	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		C	16173319	G	C	16173319	3	2	96	1	0	0	0	0	1	0	0	0	49	1232	43	3	2161	3	ABCC1	16	16173319	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	13409130	16173319	74181434	85	5177											
MYLK3	91807	genome.wustl.edu	37	16	46746655	46746655	+	Silent	SNP	G	G	A	rs373988254		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr16:46746655G>A	ENST00000394809.4	-	10	2134	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	MYLK3_ENST00000562104.1_5'Flank|MYLK3_ENST00000536476.1_Silent_p.F332F	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	673	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.F673F(1)|p.F752F(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGGAGTGCCGAAGTTCACCT	0.547																																																2	Substitution - coding silent(2)	ovary(2)	16						G		0,4406		0,0,2203	86	72	77		2019	-8	0.9	16		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYLK3	NM_182493.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		673/820	46746655	1,13005	2203	4300	6503	45304156	SO:0001819	synonymous_variant	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2019C>T	16.37:g.46746655G>A			45304156	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	CCDS10723.2																																																																																				0.547	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		A	46746655	G	A	46746655	2	1	96	1	0	0	0	0	0	0	0	1	10058	1049	37	1		1	MYLK3	16	46746655	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09	30573336	46746655	43608098	86	5178											
PITPNM3	83394	genome.wustl.edu	37	17	6371565	6371565	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr17:6371565G>A	ENST00000262483.8	-	14	1957	c.1870C>T	c.(1870-1872)Cgg>Tgg	p.R624W	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R588W	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	624					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.R624W(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		ACCTGAGTCCGCTTACGAAGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											75	72	73					17																	6371565		2203	4300	6503	6312289	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1870C>T	17.37:g.6371565G>A	ENSP00000262483:p.Arg624Trp		6312289	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640400	0.67244	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.54479	0.57;0.57	4.91	1.06	0.20224	.	0.051263	0.64402	D	0.000001	T	0.74336	0.3703	M	0.89601	3.045	0.48341	D	0.999637	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78516	-0.2174	10	0.87932	D	0	.	12.3287	0.55026	0.0:0.0:0.3549:0.6451	.	588;624	F8WEW5;Q9BZ71	.;PITM3_HUMAN	W	624;588	ENSP00000262483:R624W;ENSP00000407882:R588W	ENSP00000262483:R624W	R	-	1	2	PITPNM3	6312289	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	0.660000	0.25009	0.316000	0.23135	0.462000	0.41574	CGG		0.637	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		A	6371565	G	A	6371565	3	1	96	1	0	0	0	0	1	0	0	0	11952	1086	38	1	1082	1	PITPNM3	17	6371565	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09		6371565	74823645	87	5179											
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	17	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	7518937	SO:0001587	stop_gained	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		7518937	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578212	G	A	7578212	4	1	96	1	0	0	0	0	0	1	0	0	16381	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	1206647	7578212	73616998	88	5180											
FZD2	2535	genome.wustl.edu	37	17	42636601	42636601	+	Silent	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr17:42636601G>A	ENST00000315323.3	+	1	1677	c.1545G>A	c.(1543-1545)tcG>tcA	p.S515S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	515					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S515S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGCGCATGTCGCCCGACTTCA	0.637																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	17											43	40	41					17																	42636601		2203	4300	6503	39992127	SO:0001819	synonymous_variant	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1545G>A	17.37:g.42636601G>A			39992127	Q0VG82	Silent	SNP	ENST00000315323.3	37	CCDS11484.1																																																																																				0.637	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		A	42636601	G	A	42636601	2	1	96	1	0	0	0	0	0	0	0	1	6130	1074	38	1		1	FZD2	17	42636601	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09	35058389	42636601	38558609	89	5181											
SDK2	54549	genome.wustl.edu	37	17	71410827	71410827	+	Missense_Mutation	SNP	C	C	T	rs147112459		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr17:71410827C>T	ENST00000392650.3	-	18	2440	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	SDK2_ENST00000388726.3_Missense_Mutation_p.A814T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	814	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.A814T(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGCTGGGGGCGTTCCAGGTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	17						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	97	79	85		2440	5.4	1	17	dbSNP_134	85	0,8600		0,0,4300	no	missense	SDK2	NM_001144952.1	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	814/2173	71410827	1,13005	2203	4300	6503	68922422	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2440G>A	17.37:g.71410827C>T	ENSP00000376421:p.Ala814Thr		68922422	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	c	19.80	3.894252	0.72639	2.27E-4	0.0	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.58797	0.31;0.31	5.39	5.39	0.77823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055135	0.64402	D	0.000001	T	0.56441	0.1985	L	0.46947	1.48	0.48975	D	0.999734	P;P	0.43431	0.807;0.7	P;P	0.44990	0.454;0.466	T	0.58736	-0.7584	10	0.51188	T	0.08	.	13.7709	0.63023	0.0:0.7203:0.2797:0.0	.	814;814	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	T	438;814;814;814	ENSP00000376421:A814T;ENSP00000373378:A814T	ENSP00000324967:A814T	A	-	1	0	SDK2	68922422	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	5.216000	0.65246	2.536000	0.85505	0.543000	0.68304	GCC		0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		T	71410827	C	T	71410827	3	4	96	1	0	0	0	0	1	0	0	0	13972	768	27	1	4190	1	SDK2	17	71410827	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	28774226	71410827	9784383	90	5182											
RIOK3	8780	genome.wustl.edu	37	18	21059302	21059302	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr18:21059302A>C	ENST00000339486.3	+	12	1983	c.1366A>C	c.(1366-1368)Aag>Cag	p.K456Q	RIOK3_ENST00000581585.1_Missense_Mutation_p.K440Q|RIOK3_ENST00000577501.1_Missense_Mutation_p.K453Q	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	456	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K456Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGAGGAGTCAAGGAAGCCCT	0.368																																																1	Substitution - Missense(1)	ovary(1)	18											105	95	99					18																	21059302		2203	4300	6503	19313300	SO:0001583	missense	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1366A>C	18.37:g.21059302A>C	ENSP00000341874:p.Lys456Gln		19313300	Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	A	9.573	1.121559	0.20877	.	.	ENSG00000101782	ENST00000339486	T	0.06849	3.25	5.75	5.75	0.90469	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.774566	0.12631	N	0.452149	T	0.08891	0.0220	L	0.27053	0.805	0.09310	N	1	P;B;B;B	0.44627	0.839;0.004;0.071;0.026	P;B;B;B	0.48063	0.565;0.017;0.054;0.024	T	0.32851	-0.9891	10	0.38643	T	0.18	-12.4959	4.5996	0.12347	0.6292:0.0:0.0824:0.2884	.	200;440;453;456	E7ESK5;B4E1Q4;O14730-2;O14730	.;.;.;RIOK3_HUMAN	Q	456	ENSP00000341874:K456Q	ENSP00000341874:K456Q	K	+	1	0	RIOK3	19313300	0.602000	0.26916	0.975000	0.42487	0.807000	0.45602	1.931000	0.40134	2.202000	0.70862	0.451000	0.29950	AAG		0.368	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		C	21059302	A	C	21059302	3	2	96	1	0	0	0	0	1	0	0	0	13382	131	5	5	1412	5	RIOK3	18	21059302	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09		21059302	57017946	91	5183											
ZNF521	25925	genome.wustl.edu	37	18	22806157	22806157	+	Silent	SNP	A	A	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr18:22806157A>T	ENST00000361524.3	-	4	1873	c.1725T>A	c.(1723-1725)ctT>ctA	p.L575L	ZNF521_ENST00000584787.1_Silent_p.L355L|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.L575L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	575					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.L575L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTTCAGTTTAAGAACGCTGT	0.423			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - coding silent(1)	ovary(1)	18											119	122	121					18																	22806157		2203	4300	6503	21060155	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1725T>A	18.37:g.22806157A>T			21060155	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																				0.423	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22806157	A	T	22806157	2	4	96	1	0	0	0	0	0	0	0	1	17965	349	13	5		5	ZNF521	18	22806157	Silent	SNP	A	TCGA-13-0887-01A-01W-0421-09	1746855	22806157	55271091	92	5184											
OR7G1	125962	genome.wustl.edu	37	19	9225597	9225597	+	Silent	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr19:9225597G>T	ENST00000541538.1	-	1	842	c.843C>A	c.(841-843)gtC>gtA	p.V281V	OR7G1_ENST00000293614.1_Silent_p.V281V	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V281V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TCATTTGAGGGACCACAGTGT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	19											126	112	117					19																	9225597		2203	4300	6503	9086597	SO:0001819	synonymous_variant	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.843C>A	19.37:g.9225597G>T			9086597	Q6IFJ5|Q96RA1	Silent	SNP	ENST00000541538.1	37	CCDS32898.2																																																																																				0.433	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			T	9225597	G	T	9225597	2	4	96	1	0	0	0	0	0	0	0	1	11222	1161	41	3		3	OR7G1	19	9225597	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09		9225597	49903386	93	5185											
RGL3	57139	genome.wustl.edu	37	19	11526798	11526798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr19:11526798C>T	ENST00000380456.3	-	5	515	c.452G>A	c.(451-453)tGg>tAg	p.W151*	RGL3_ENST00000393423.3_Nonsense_Mutation_p.W151*	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	151	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.W151*(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GTCCTGCAGCCAGGAGCCCAG	0.622																																					GBM(174;751 2067 17998 27979 33959)											1	Substitution - Nonsense(1)	ovary(1)	19											15	17	16					19																	11526798		2203	4298	6501	11387798	SO:0001587	stop_gained	57139			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.452G>A	19.37:g.11526798C>T	ENSP00000369823:p.Trp151*		11387798	B5ME84|B7ZL22|Q0P6G0	Nonsense_Mutation	SNP	ENST00000380456.3	37	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798123	0.96952	.	.	ENSG00000205517	ENST00000393423;ENST00000380456	.	.	.	4.88	4.88	0.63580	.	0.060260	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7728	0.85543	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000369823:W151X	W	-	2	0	RGL3	11387798	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.414000	0.66405	2.249000	0.74217	0.511000	0.50034	TGG		0.622	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		T	11526798	C	T	11526798	4	4	96	1	0	0	0	0	0	1	0	0	13281	595	21	2	1758	2	RGL3	19	11526798	Nonsense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	2301201	11526798	47602185	94	5186											
EMR2	30817	genome.wustl.edu	37	19	14862306	14862306	+	Missense_Mutation	SNP	C	C	A	rs143530914		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr19:14862306C>A	ENST00000315576.3	-	16	2417	c.1966G>T	c.(1966-1968)Gct>Tct	p.A656S	EMR2_ENST00000601345.1_Missense_Mutation_p.A645S|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000346057.1_Missense_Mutation_p.A607S|EMR2_ENST00000392965.3_Missense_Mutation_p.A598S|EMR2_ENST00000353005.1_Missense_Mutation_p.A514S|EMR2_ENST00000596991.2_Missense_Mutation_p.A645S|EMR2_ENST00000594076.1_Missense_Mutation_p.A563S|EMR2_ENST00000595839.1_Missense_Mutation_p.A514S|EMR2_ENST00000594294.1_Missense_Mutation_p.A607S|EMR2_ENST00000353876.1_Missense_Mutation_p.A563S|EMR2_ENST00000392967.2_Missense_Mutation_p.A645S	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	656					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.A656S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ACTGTCACAGCTGGGACTCCG	0.512																																																1	Substitution - Missense(1)	ovary(1)	19											122	115	117					19																	14862306		2203	4300	6503	14723306	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1966G>T	19.37:g.14862306C>A	ENSP00000319883:p.Ala656Ser		14723306	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657851	0.47467	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	4.62	2.37	0.29283	GPCR, family 2-like (1);	.	.	.	.	T	0.70360	0.3215	H	0.96720	3.87	0.22389	N	0.99914	D;P;D;D;P;P;D;P	0.69078	0.994;0.929;0.997;0.996;0.929;0.942;0.988;0.824	D;P;D;D;P;P;D;P	0.71414	0.934;0.839;0.973;0.939;0.839;0.868;0.939;0.607	T	0.65026	-0.6268	9	0.72032	D	0.01	.	12.6581	0.56799	0.0:0.6808:0.3192:0.0	.	598;563;656;514;607;656;656;645	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	S	656;645;607;563;514;598	ENSP00000319883:A656S;ENSP00000376694:A645S;ENSP00000263380:A607S;ENSP00000319454:A563S;ENSP00000319838:A514S;ENSP00000376692:A598S	ENSP00000319883:A656S	A	-	1	0	EMR2	14723306	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	0.115000	0.15540	0.437000	0.26423	0.514000	0.50259	GCT		0.512	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			A	14862306	C	A	14862306	3	1	96	1	0	0	0	0	1	0	0	0	5105	797	28	3	529	3	EMR2	19	14862306	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	3335508	14862306	44266677	95	5187											
IRGC	56269	genome.wustl.edu	37	19	44223100	44223100	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr19:44223100C>A	ENST00000244314.5	+	2	589	c.390C>A	c.(388-390)gaC>gaA	p.D130E		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	130	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.D130E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGCAGGTAGACTTCAGCCGCT	0.647																																					Colon(189;350 2037 11447 13433 38914)											1	Substitution - Missense(1)	ovary(1)	19											20	18	19					19																	44223100		2202	4299	6501	48914940	SO:0001583	missense	56269			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.390C>A	19.37:g.44223100C>A	ENSP00000244314:p.Asp130Glu		48914940	Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	3.232	-0.157161	0.06544	.	.	ENSG00000124449	ENST00000244314	T	0.20738	2.05	5.71	-2.41	0.06562	.	0.592248	0.15890	N	0.239594	T	0.04588	0.0125	N	0.02854	-0.475	0.09310	N	1	B	0.24823	0.112	B	0.25405	0.06	T	0.32134	-0.9918	10	0.02654	T	1	.	0.5314	0.00629	0.2494:0.2857:0.2438:0.221	.	130	Q6NXR0	IIGP5_HUMAN	E	130	ENSP00000244314:D130E	ENSP00000244314:D130E	D	+	3	2	IRGC	48914940	0.982000	0.34865	0.646000	0.29493	0.992000	0.81027	0.111000	0.15458	-0.176000	0.10707	0.555000	0.69702	GAC		0.647	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		A	44223100	C	A	44223100	3	1	96	1	0	0	0	0	1	0	0	0	7838	564	20	3	392	3	IRGC	19	44223100	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	29360794	44223100	14905883	96	5188											
BCAT2	587	genome.wustl.edu	37	19	49309829	49309829	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr19:49309829G>T	ENST00000316273.6	-	3	257	c.245C>A	c.(244-246)cCc>cAc	p.P82H	BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000597011.1_Missense_Mutation_p.P42H|BCAT2_ENST00000598162.1_Missense_Mutation_p.P82H|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000402551.1_Missense_Mutation_p.P42H|BCAT2_ENST00000601496.1_5'Flank	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	82					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)	p.P82H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GTTCTGGAAGGGCTGGATTCG	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											114	124	121					19																	49309829		2203	4300	6503	54001641	SO:0001583	missense	587			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.245C>A	19.37:g.49309829G>T	ENSP00000322991:p.Pro82His		54001641	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828870	0.90955	.	.	ENSG00000105552	ENST00000316273;ENST00000402551	T;T	0.21031	2.03;2.03	5.27	5.27	0.74061	.	0.054027	0.85682	D	0.000000	T	0.62171	0.2406	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75858	-0.3169	10	0.87932	D	0	-7.8449	16.7525	0.85489	0.0:0.0:1.0:0.0	.	82;82	Q53EW7;O15382	.;BCAT2_HUMAN	H	82;42	ENSP00000322991:P82H;ENSP00000385161:P42H	ENSP00000322991:P82H	P	-	2	0	BCAT2	54001641	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.980000	0.93460	2.626000	0.88956	0.650000	0.86243	CCC		0.642	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			T	49309829	G	T	49309829	3	4	96	1	0	0	0	0	1	0	0	0	1355	1232	43	3	969	3	BCAT2	19	49309829	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	5086729	49309829	9819154	97	5189											
RCN3	57333	genome.wustl.edu	37	19	50037525	50037525	+	Silent	SNP	C	C	T	rs576658208		TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr19:50037525C>T	ENST00000270645.3	+	3	765	c.318C>T	c.(316-318)atC>atT	p.I106I	RCN3_ENST00000593644.1_Intron	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	106	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)	p.I106I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GCGCGTGGATCGCGCACACGC	0.726													C|||	1	0.000199681	0	0	5008	,	,		11863	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	19											11	9	10					19																	50037525		2101	4113	6214	54729337	SO:0001819	synonymous_variant	57333			AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"EF-hand domain containing"	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.318C>T	19.37:g.50037525C>T			54729337	Q9HBZ8	Silent	SNP	ENST00000270645.3	37	CCDS12771.1																																																																																				0.726	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		T	50037525	C	T	50037525	2	4	96	1	0	0	0	0	0	0	0	1	13184	874	31	1		1	RCN3	19	50037525	Silent	SNP	C	TCGA-13-0887-01A-01W-0421-09	727696	50037525	9091458	98	5190											
RALGAPA2	57186	genome.wustl.edu	37	20	20585856	20585856	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr20:20585856T>A	ENST00000202677.7	-	15	2008	c.2001A>T	c.(1999-2001)aaA>aaT	p.K667N	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	667					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.K667N(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTTCACTTAATTTATCCAGAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	20											83	77	79					20																	20585856		1879	4122	6001	20533856	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2001A>T	20.37:g.20585856T>A	ENSP00000202677:p.Lys667Asn		20533856	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.96|15.96	2.986501|2.986501	0.53934|0.53934	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	D|.	0.96396|.	-4.0|.	5.28|5.28	2.26|2.26	0.28386|0.28386	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71247|0.71247	0.3317|0.3317	M|M	0.80847|0.80847	2.515|2.515	0.41256|0.41256	D|D	0.986748|0.986748	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71656|.	0.974;0.974|.	T|T	0.68450|0.68450	-0.5405|-0.5405	10|5	0.51188|.	T|.	0.08|.	.|.	9.5718|9.5718	0.39433|0.39433	0.0:0.45:0.0:0.55|0.0:0.45:0.0:0.55	.|.	505;667|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	N|I	667|484	ENSP00000202677:K667N|.	ENSP00000202677:K667N|.	K|N	-|-	3|2	2|0	RALGAPA2|RALGAPA2	20533856|20533856	0.998000|0.998000	0.40836|0.40836	0.983000|0.983000	0.44433|0.44433	0.948000|0.948000	0.59901|0.59901	0.476000|0.476000	0.22180|0.22180	0.131000|0.131000	0.18576|0.18576	0.377000|0.377000	0.23210|0.23210	AAA|AAT		0.428	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		A	20585856	T	A	20585856	3	1	96	1	0	0	0	0	1	0	0	0	13017	1490	52	5	3720	5	RALGAPA2	20	20585856	Missense_Mutation	SNP	T	TCGA-13-0887-01A-01W-0421-09		20585856	42439664	99	5191											
ZMYND8	23613	genome.wustl.edu	37	20	45891162	45891162	+	Silent	SNP	G	G	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr20:45891162G>A	ENST00000311275.7	-	12	1684	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	ZMYND8_ENST00000355972.4_Silent_p.A477A|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000372023.3_Silent_p.A472A|ZMYND8_ENST00000262975.4_Silent_p.A477A|ZMYND8_ENST00000458360.2_Silent_p.A472A|ZMYND8_ENST00000536340.1_Silent_p.A504A|ZMYND8_ENST00000461685.1_Silent_p.A497A|ZMYND8_ENST00000352431.2_Silent_p.A497A|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Silent_p.A472A|ZMYND8_ENST00000446994.2_Silent_p.A414A|ZMYND8_ENST00000396281.4_Silent_p.A477A|ZMYND8_ENST00000471951.2_Silent_p.A497A	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	477					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.A497A(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCTTGGTGGAGGCTGGTGAAG	0.468																																																1	Substitution - coding silent(1)	ovary(1)	20											114	107	109					20																	45891162		2203	4300	6503	45324569	SO:0001819	synonymous_variant	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1431C>T	20.37:g.45891162G>A			45324569	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	G	9.125	1.009864	0.19277	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.34	-0.202	0.13208	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39781	-0.9597	4	.	.	.	-12.9635	4.9382	0.13952	0.3209:0.0:0.4197:0.2593	.	.	.	.	F	404	.	.	L	-	1	0	ZMYND8	45324569	1.000000	0.71417	0.982000	0.44146	0.853000	0.48598	0.448000	0.21726	0.268000	0.21939	-0.237000	0.12165	CTC		0.468	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		A	45891162	G	A	45891162	2	1	96	1	0	0	0	0	0	0	0	1	17711	987	35	2		2	ZMYND8	20	45891162	Silent	SNP	G	TCGA-13-0887-01A-01W-0421-09	25305306	45891162	17134358	100	5192											
SGSM3	57591	genome.wustl.edu	37	22	40805279	40805279	+	IGR	SNP	G	G	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr22:40805279G>C	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_3'UTR|SGSM3_ENST00000248929.9_Missense_Mutation_p.E672Q	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E672Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCTGTGGCTGGAGGTGCTCTG	0.672			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	1	Substitution - Missense(1)	ovary(1)	22											39	43	41					22																	40805279		2198	4298	6496	39135225	SO:0001628	intergenic_variant	27352			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40805279G>C			39135225	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856869	0.91433	.	.	ENSG00000100359	ENST00000248929;ENST00000427834	T;T	0.10573	2.86;2.86	4.73	4.73	0.59995	RUN (3);	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.991;0.996	T	0.34800	-0.9814	10	0.87932	D	0	.	18.1418	0.89642	0.0:0.0:1.0:0.0	.	583;700;672	B4DVE3;Q96HU1-2;Q96HU1	.;.;SGSM3_HUMAN	Q	672;117	ENSP00000248929:E672Q;ENSP00000407286:E117Q	ENSP00000248929:E672Q	E	+	1	0	SGSM3	39135225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.949000	0.93012	2.364000	0.80123	0.456000	0.33151	GAG		0.672	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		C	40805279	G	C	40805279	1	2	96	0	1	0	0	0	0	0	0	0	14227	1175	41	3		3	SGSM3	22	40805279	IGR	SNP	G	TCGA-13-0887-01A-01W-0421-09		40805279	10499287	101	5193											
PLXNB2	23654	genome.wustl.edu	37	22	50721516	50721516	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chr22:50721516C>A	ENST00000449103.1	-	17	2919	c.2779G>T	c.(2779-2781)Gac>Tac	p.D927Y	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.D927Y			O15031	PLXB2_HUMAN	plexin B2	927	IPT/TIG 2.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.D970Y(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCCGCACGTCCTCCTGGGAG	0.687																																																1	Substitution - Missense(1)	ovary(1)	22											18	24	22					22																	50721516		2019	4170	6189	49063643	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2779G>T	22.37:g.50721516C>A	ENSP00000409171:p.Asp927Tyr		49063643	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278679	0.80692	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.77877	-1.13;-1.13	3.83	3.83	0.44106	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.322809	0.22319	N	0.061631	D	0.88232	0.6381	M	0.85859	2.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.89928	0.4064	10	0.72032	D	0.01	.	13.2734	0.60175	0.0:1.0:0.0:0.0	.	927	O15031	PLXB2_HUMAN	Y	927	ENSP00000409171:D927Y;ENSP00000352288:D927Y	ENSP00000352288:D927Y	D	-	1	0	PLXNB2	49063643	0.998000	0.40836	1.000000	0.80357	0.778000	0.44026	3.792000	0.55476	1.966000	0.57179	0.561000	0.74099	GAC		0.687	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50721516	C	A	50721516	3	1	96	1	0	0	0	0	1	0	0	0	12124	855	30	3	2821	3	PLXNB2	22	50721516	Missense_Mutation	SNP	C	TCGA-13-0887-01A-01W-0421-09	9916237	50721516	583050	102	5194											
HUWE1	10075	genome.wustl.edu	37	X	53578151	53578151	+	Splice_Site	SNP	C	C	A			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chrX:53578151C>A	ENST00000342160.3	-	64	9554		c.e64-1		HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGCCAGTACCTATGGAGCAG	0.572																																																1	Unknown(1)	ovary(1)	X											78	70	73					X																	53578151		2203	4300	6503	53594876	SO:0001630	splice_region_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9097-1G>T	X.37:g.53578151C>A			53594876	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541453	0.65085	.	.	ENSG00000086758	ENST00000342160;ENST00000427052;ENST00000262854	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8502	0.88744	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HUWE1	53594876	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.070000	0.76763	2.489000	0.83994	0.600000	0.82982	.		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Intron	A	53578151	C	A	53578151	5	1	96	1	0	0	0	0	0	0	1	0	7461	695	24	3	4108	3	HUWE1	23	53578151	Splice_Site	SNP	C	TCGA-13-0887-01A-01W-0421-09		53578151	101692409	103	5195											
MUM1L1	139221	genome.wustl.edu	37	X	105450659	105450659	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chrX:105450659A>T	ENST00000357175.2	+	4	1883	c.1234A>T	c.(1234-1236)Agt>Tgt	p.S412C	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S412C|MUM1L1_ENST00000337685.2_Missense_Mutation_p.S412C	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	412	PWWP.					extracellular vesicular exosome (GO:0070062)		p.S412C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTGATAAAAAGTATCAGACG	0.343																																																1	Substitution - Missense(1)	ovary(1)	X											37	33	34					X																	105450659		1836	4072	5908	105337315	SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1234A>T	X.37:g.105450659A>T	ENSP00000349699:p.Ser412Cys		105337315	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634407	0.47049	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.72167	-0.63;-0.63;-0.63	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000012	T	0.76378	0.3979	M	0.68317	2.08	0.32173	N	0.581412	D	0.69078	0.997	P	0.56960	0.81	T	0.81616	-0.0852	10	0.87932	D	0	-33.04	8.8406	0.35140	1.0:0.0:0.0:0.0	.	412	Q5H9M0	MUML1_HUMAN	C	412	ENSP00000349699:S412C;ENSP00000338641:S412C;ENSP00000361632:S412C	ENSP00000338641:S412C	S	+	1	0	MUM1L1	105337315	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.085000	0.57657	1.908000	0.55244	0.430000	0.28490	AGT		0.343	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		T	105450659	A	T	105450659	3	4	96	1	0	0	0	0	1	0	0	0	9986	72	3	5	1236	5	MUM1L1	23	105450659	Missense_Mutation	SNP	A	TCGA-13-0887-01A-01W-0421-09	51872508	105450659	49819901	104	5196											
GPR101	83550	genome.wustl.edu	37	X	136113603	136113603	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0887-01A-01W-0421-09	TCGA-13-0887-10A-01W-0421-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e05146f2-688d-416b-a992-e2c7a2b7b244	a7b1690e-9c43-4c92-b1a8-6e1c488da73a	g.chrX:136113603G>C	ENST00000298110.1	-	1	230	c.231C>G	c.(229-231)gaC>gaG	p.D77E		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.D77E(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCTGCAGCAGGTCGGTGACGA	0.602																																																1	Substitution - Missense(1)	ovary(1)	X											58	55	56					X																	136113603		2203	4300	6503	135941269	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.231C>G	X.37:g.136113603G>C	ENSP00000298110:p.Asp77Glu		135941269	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300614	0.60195	.	.	ENSG00000165370	ENST00000298110	D	0.87966	-2.32	4.85	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.93132	0.7813	M	0.92738	3.34	0.37145	D	0.901905	D	0.89917	1.0	D	0.81914	0.995	D	0.92035	0.5636	9	0.87932	D	0	-26.4374	4.357	0.11183	0.4782:0.0:0.5218:0.0	.	77	Q96P66	GP101_HUMAN	E	77	ENSP00000298110:D77E	ENSP00000298110:D77E	D	-	3	2	GPR101	135941269	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.844000	0.39269	0.835000	0.34877	0.544000	0.68410	GAC		0.602	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			C	136113603	G	C	136113603	3	2	96	1	0	0	0	0	1	0	0	0	6622	1252	44	3	1298	3	GPR101	23	136113603	Missense_Mutation	SNP	G	TCGA-13-0887-01A-01W-0421-09	30662944	136113603	19156957	105	5197											
SLC2A1	6513	hgsc.bcm.edu	37	1	43392858	43392858	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr1:43392858A>G	ENST00000426263.3	-	10	1511	c.1333T>C	c.(1333-1335)Ttc>Ctc	p.F445L	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	445					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)	p.F445L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GTGAAGATGAAGAACAGAACC	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											86	68	74					1																	43392858		2203	4300	6503	43165445	SO:0001583	missense	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1333T>C	1.37:g.43392858A>G	ENSP00000416293:p.Phe445Leu		43165445	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354426	0.24512	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019	T	0.73789	-0.78	5.66	5.66	0.87406	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.31294	0.92	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.58142	-0.7688	10	0.22706	T	0.39	.	13.8441	0.63457	1.0:0.0:0.0:0.0	.	445	P11166	GTR1_HUMAN	L	445;445;387	ENSP00000416293:F445L	ENSP00000361579:F445L	F	-	1	0	SLC2A1	43165445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.978000	0.70501	2.166000	0.68216	0.454000	0.30748	TTC		0.517	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		G	43392858	A	G	43392858	3	3	97	1	0	0	0	0	1	0	0	0	14541	72	3	4	149	4	SLC2A1	1	43392858	Missense_Mutation	SNP	A	TCGA-13-0889-01A-01W-0419-10		43392858	205857763	1	5198											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144912276	144912276	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr1:144912276C>G	ENST00000369354.3	-	15	2188	c.1999G>C	c.(1999-2001)Gtg>Ctg	p.V667L	PDE4DIP_ENST00000529945.1_Missense_Mutation_p.V830L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V804L|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.V830L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.V667L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V804L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V667L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.V667L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.V733L|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.V454L|PDE4DIP_ENST00000524974.1_5'Flank			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	667					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.V667L(3)|p.V830L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGCTTGCACCAACTTCTCT	0.383			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	4	Substitution - Missense(4)	lung(3)|ovary(1)	1											70	65	67					1																	144912276		2203	4300	6503	143623633	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1999G>C	1.37:g.144912276C>G	ENSP00000358360:p.Val667Leu		143623633	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354191	0.61293	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.56444	4.7;4.79;4.79;4.8;4.79;3.8;3.8;2.72;2.72;0.46	5.53	5.53	0.82687	.	.	.	.	.	T	0.50274	0.1606	L	0.57536	1.79	0.80722	D	1	P;D;P;D;P;D	0.63046	0.891;0.958;0.582;0.958;0.901;0.992	P;P;B;P;P;P	0.56163	0.487;0.793;0.188;0.793;0.545;0.712	T	0.41502	-0.9505	9	0.16896	T	0.51	.	15.0248	0.71659	0.0:1.0:0.0:0.0	.	830;454;667;830;733;667	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	L	733;667;667;830;804;804;667;667;830;830;454	ENSP00000327209:V733L;ENSP00000358360:V667L;ENSP00000358363:V667L;ENSP00000435654:V804L;ENSP00000358366:V804L;ENSP00000358357:V667L;ENSP00000358355:V667L;ENSP00000316434:V830L;ENSP00000433392:V830L;ENSP00000436791:V454L	ENSP00000327209:V733L	V	-	1	0	PDE4DIP	143623633	0.987000	0.35691	0.996000	0.52242	0.676000	0.39594	2.220000	0.42908	2.624000	0.88883	0.650000	0.86243	GTG		0.383	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144912276	C	G	144912276	3	3	97	1	0	0	0	0	1	0	0	0	11643	507	18	3	5171	3	PDE4DIP	1	144912276	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10	101519418	144912276	104338345	2	5199											
SELP	6403	hgsc.bcm.edu	37	1	169582293	169582293	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr1:169582293G>T	ENST00000263686.6	-	5	686	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	SELP_ENST00000367786.2_Missense_Mutation_p.L217M|SELP_ENST00000367794.2_Missense_Mutation_p.L217M|SELP_ENST00000367788.2_Missense_Mutation_p.L217M|SELP_ENST00000367793.2_Missense_Mutation_p.L217M|SELP_ENST00000367792.2_Missense_Mutation_p.L217M|SELP_ENST00000458599.2_Missense_Mutation_p.L217M|SELP_ENST00000367791.2_Missense_Mutation_p.L217M	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	217	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.L217M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AAGTTTCCCAGAGGGTGGCTG	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											83	78	80					1																	169582293		2203	4300	6503	167848917	SO:0001583	missense	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.649C>A	1.37:g.169582293G>T	ENSP00000263686:p.Leu217Met		167848917	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.82|17.82	3.483591|3.483591	0.63962|0.63962	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.50813|.	0.73;0.73;0.73;0.73;0.73;0.73;0.73|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.44902|.	D|.	0.000417|.	T|T	0.76011|0.76011	0.3928|0.3928	M|M	0.91663|0.91663	3.23|3.23	0.31250|0.31250	N|N	0.694124|0.694124	D;D;D|.	0.76494|.	0.999;0.999;0.998|.	D;D;D|.	0.76575|.	0.984;0.988;0.985|.	T|T	0.78247|0.78247	-0.2278|-0.2278	10|5	0.34782|.	T|.	0.22|.	-8.7037|-8.7037	17.9372|17.9372	0.89015|0.89015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	217;217;217|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	M|Y	217;217;216;217;217;217;217;217;217;217;217;217;202|216	ENSP00000263686:L217M;ENSP00000356767:L217M;ENSP00000356768:L217M;ENSP00000356766:L217M;ENSP00000356765:L217M;ENSP00000356762:L217M;ENSP00000356760:L217M|.	ENSP00000263686:L217M|.	L|S	-|-	1|2	2|0	SELP|SELP	167848917|167848917	0.012000|0.012000	0.17670|0.17670	0.853000|0.853000	0.33588|0.33588	0.878000|0.878000	0.50629|0.50629	0.756000|0.756000	0.26419|0.26419	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.483	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		T	169582293	G	T	169582293	3	4	97	1	0	0	0	0	1	0	0	0	14022	933	33	3	1891	3	SELP	1	169582293	Missense_Mutation	SNP	G	TCGA-13-0889-01A-01W-0419-10	24670017	169582293	79668328	3	5200											
HMCN1	83872	hgsc.bcm.edu	37	1	186113408	186113408	+	Silent	SNP	G	G	A	rs115782304	byFrequency	TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr1:186113408G>A	ENST00000271588.4	+	90	14257	c.14028G>A	c.(14026-14028)gcG>gcA	p.A4676A	HMCN1_ENST00000367492.2_Silent_p.A4676A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4676	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A4676A(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACCACCAGCGTTTGGTGGGT	0.443													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		18867	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1						G		56,4350	54.9+/-90.9	0,56,2147	148	151	150		14028	-10.8	0	1	dbSNP_132	150	0,8600		0,0,4300	no	coding-synonymous	HMCN1	NM_031935.2		0,56,6447	AA,AG,GG		0.0,1.271,0.4306		4676/5636	186113408	56,12950	2203	4300	6503	184380031	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14028G>A	1.37:g.186113408G>A			184380031	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186113408	G	A	186113408	2	1	97	1	0	0	0	0	0	0	0	1	7220	1132	40	1		1	HMCN1	1	186113408	Silent	SNP	G	TCGA-13-0889-01A-01W-0419-10	16531115	186113408	63137213	4	5201											
LRPPRC	10128	hgsc.bcm.edu	37	2	44173340	44173340	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr2:44173340C>T	ENST00000260665.7	-	21	2179	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	708					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.D708N(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTAACCATGTCGGATTCATAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											96	95	95					2																	44173340		2202	4299	6501	44026844	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2122G>A	2.37:g.44173340C>T	ENSP00000260665:p.Asp708Asn		44026844	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126338	0.56721	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56103	0.48	5.63	4.76	0.60689	.	0.142946	0.64402	N	0.000006	T	0.50222	0.1603	M	0.72894	2.215	0.80722	D	1	P;B	0.36495	0.556;0.445	B;B	0.34590	0.186;0.044	T	0.48091	-0.9065	10	0.17832	T	0.49	-6.6379	14.4059	0.67081	0.0:0.9293:0.0:0.0707	.	608;708	F5H4J6;P42704	.;LPPRC_HUMAN	N	608;708	ENSP00000260665:D708N	ENSP00000260665:D708N	D	-	1	0	LRPPRC	44026844	1.000000	0.71417	0.916000	0.36221	0.560000	0.35617	5.581000	0.67471	1.387000	0.46486	0.650000	0.86243	GAC		0.348	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		T	44173340	C	T	44173340	3	4	97	1	0	0	0	0	1	0	0	0	8965	884	31	1	2134	1	LRPPRC	2	44173340	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10		44173340	199026033	5	5202											
XIRP2	129446	hgsc.bcm.edu	37	2	168107660	168107660	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr2:168107660G>A	ENST00000409195.1	+	9	9847	c.9758G>A	c.(9757-9759)aGa>aAa	p.R3253K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3031K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3253K|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3078					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R3253K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGTTCCTTCAGAGAATCTGTG	0.423																																																1	Substitution - Missense(1)	ovary(1)	2											61	57	58					2																	168107660		1878	4118	5996	167815906	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9758G>A	2.37:g.168107660G>A	ENSP00000386840:p.Arg3253Lys		167815906	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757544	0.15846	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02140	4.43;4.43;4.43	5.61	1.45	0.22620	.	0.381248	0.30510	N	0.009468	T	0.01627	0.0052	L	0.28740	0.885	0.29420	N	0.860639	B;B;B	0.14805	0.007;0.011;0.004	B;B;B	0.13407	0.004;0.009;0.003	T	0.43956	-0.9359	10	0.14252	T	0.57	-5.8296	5.7571	0.18178	0.3109:0.0:0.5622:0.1269	.	3078;3078;3031	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	3253;3253;3031;667	ENSP00000386840:R3253K;ENSP00000295237:R3253K;ENSP00000387255:R3031K	ENSP00000295237:R3253K	R	+	2	0	XIRP2	167815906	0.450000	0.25697	0.930000	0.37139	0.191000	0.23601	0.626000	0.24492	0.374000	0.24650	0.460000	0.39030	AGA		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168107660	G	A	168107660	3	1	97	1	0	0	0	0	1	0	0	0	17430	942	33	2	9788	2	XIRP2	2	168107660	Missense_Mutation	SNP	G	TCGA-13-0889-01A-01W-0419-10	123934320	168107660	75091713	6	5203											
PDCD6IP	10015	hgsc.bcm.edu	37	3	33877623	33877623	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr3:33877623C>G	ENST00000307296.3	+	8	1299	c.922C>G	c.(922-924)Ctt>Gtt	p.L308V	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.L313V			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	308	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.L308V(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CAATCGTGCCCTTGCTGCAGC	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											163	166	165					3																	33877623		2203	4300	6503	33852627	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.922C>G	3.37:g.33877623C>G	ENSP00000307387:p.Leu308Val		33852627	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121773	0.94385	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.25085	1.82;1.82	5.18	5.18	0.71444	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.83774	2.66	0.80722	D	1	D;D;D	0.67145	0.996;0.977;0.977	D;P;P	0.66979	0.948;0.806;0.806	T	0.61574	-0.7035	10	0.62326	D	0.03	-13.0954	18.691	0.91582	0.0:1.0:0.0:0.0	.	89;313;308	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	V	308;313	ENSP00000307387:L308V;ENSP00000411825:L313V	ENSP00000307387:L308V	L	+	1	0	PDCD6IP	33852627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.805000	0.86005	2.407000	0.81776	0.650000	0.86243	CTT		0.373	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			G	33877623	C	G	33877623	3	3	97	1	0	0	0	0	1	0	0	0	11624	681	24	3	967	3	PDCD6IP	3	33877623	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10		33877623	164144807	7	5204											
USP4	7375	hgsc.bcm.edu	37	3	49337910	49337910	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr3:49337910C>G	ENST00000265560.4	-	11	1548	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T	USP4_ENST00000351842.4_Missense_Mutation_p.R454T|USP4_ENST00000488520.1_5'Flank	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	501	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R501T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CTGAGTAGGTCTGCAGTGAGG	0.527																																																1	Substitution - Missense(1)	ovary(1)	3											116	115	115					3																	49337910		2203	4300	6503	49312914	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1502G>C	3.37:g.49337910C>G	ENSP00000265560:p.Arg501Thr		49312914	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.445584|3.445584	0.63178|0.63178	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000431357|ENST00000351842;ENST00000265560	.|T;T	.|0.21031	.|2.03;2.15	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.080808	.|0.85682	.|D	.|0.000000	T|T	0.25306|0.25306	0.0615|0.0615	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.45768	.|0.837;0.578;0.866	.|B;B;P	.|0.46208	.|0.373;0.309;0.507	T|T	0.00521|0.00521	-1.1691|-1.1691	5|10	.|0.51188	.|T	.|0.08	-18.5278|-18.5278	12.073|12.073	0.53628|0.53628	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	.|454;501;501	.|Q13107-2;Q13107;Q08AK7	.|.;UBP4_HUMAN;.	H|T	239|454;501	.|ENSP00000341028:R454T;ENSP00000265560:R501T	.|ENSP00000265560:R501T	Q|R	-|-	3|2	2|0	USP4|USP4	49312914|49312914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.030000|2.030000	0.41108|0.41108	2.755000|2.755000	0.94549|0.94549	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.527	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		G	49337910	C	G	49337910	3	3	97	1	0	0	0	0	1	0	0	0	17071	913	32	3	1437	3	USP4	3	49337910	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10	15460287	49337910	148684520	8	5205											
TXNDC6	347736	hgsc.bcm.edu	37	3	138022468	138022468	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr3:138022468C>T	ENST00000333911.3	-	10	836	c.809G>A	c.(808-810)gGc>gAc	p.G270D	NME9_ENST00000536478.1_Missense_Mutation_p.G209D|NME9_ENST00000341790.5_Missense_Mutation_p.G207D|NME9_ENST00000484930.1_Missense_Mutation_p.G207D|NME9_ENST00000383180.2_Missense_Mutation_p.G209D|NME9_ENST00000317876.4_Missense_Mutation_p.G209D			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	270	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.G209D(1)									CATTTCTGTGCCGTACTGAGC	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											69	65	67					3																	138022468		2203	4300	6503	139505158	SO:0001583	missense	347736			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"thioredoxin domain containing 6", "NME gene family member 9", "NME family member 9"	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.809G>A	3.37:g.138022468C>T	ENSP00000335444:p.Gly270Asp		139505158	Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.977579|3.977579	0.74360|0.74360	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911	.|T;T;T;T;T;T	.|0.59906	.|0.23;0.23;0.23;0.23;0.23;0.23	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.224693	.|0.43579	.|D	.|0.000546	T|T	0.78155|0.78155	0.4239|0.4239	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.97110	.|1.0;0.971;0.991	T|T	0.80430|0.80430	-0.1386|-0.1386	4|9	.|0.87932	.|D	.|0	-26.3951|-26.3951	17.3969|17.3969	0.87448|0.87448	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|207;270;209	.|Q86XW9-3;Q86XW9;Q86XW9-2	.|.;TXND6_HUMAN;.	T|D	149|209;209;207;207;209;270	.|ENSP00000372667:G209D;ENSP00000321929:G209D;ENSP00000419882:G207D;ENSP00000341084:G207D;ENSP00000440143:G209D;ENSP00000335444:G270D	.|ENSP00000321929:G209D	A|G	-|-	1|2	0|0	TXNDC6|TXNDC6	139505158|139505158	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.491000|0.491000	0.33493|0.33493	5.686000|5.686000	0.68211|0.68211	2.710000|2.710000	0.92621|0.92621	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.438	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		T	138022468	C	T	138022468	3	4	97	1	0	0	0	0	1	0	0	0	16800	739	26	2	173	2	TXNDC6	3	138022468	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10	88684558	138022468	59999962	9	5206											
MAPK14	1432	hgsc.bcm.edu	37	6	36070418	36070418	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr6:36070418A>T	ENST00000229794.4	+	10	1221	c.833A>T	c.(832-834)aAt>aTt	p.N278I	MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229795.3_Missense_Mutation_p.N278I|MAPK14_ENST00000468133.1_Missense_Mutation_p.N201I	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.N278I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ATTGGTGCCAATCCCCTGGGT	0.368																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)											1	Substitution - Missense(1)	ovary(1)	6											200	195	197					6																	36070418		2203	4300	6503	36178396	SO:0001583	missense	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"Mitogen-activated protein kinase cascade / Kinases"	6876	protein-coding gene	gene with protein product	"p38 MAP kinase"	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.833A>T	6.37:g.36070418A>T	ENSP00000229794:p.Asn278Ile		36178396	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481982	0.84747	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133	T;T;T	0.13538	2.58;2.58;2.58	4.82	4.82	0.62117	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	0.25938	0.0632	M	0.67569	2.06	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.983	D;P;D	0.73708	0.981;0.844;0.909	T	0.02829	-1.1105	10	0.87932	D	0	.	14.6663	0.68910	1.0:0.0:0.0:0.0	.	278;278;278	Q16539;Q16539-2;Q16539-3	MK14_HUMAN;.;.	I	278;278;201	ENSP00000229795:N278I;ENSP00000229794:N278I;ENSP00000419837:N201I	ENSP00000229794:N278I	N	+	2	0	MAPK14	36178396	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	9.287000	0.95975	1.932000	0.55993	0.459000	0.35465	AAT		0.368	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		T	36070418	A	T	36070418	3	4	97	1	0	0	0	0	1	0	0	0	9276	101	4	5	955	5	MAPK14	6	36070418	Missense_Mutation	SNP	A	TCGA-13-0889-01A-01W-0419-10		36070418	135044649	10	5207											
DBH	1621	hgsc.bcm.edu	37	9	136507391	136507391	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr9:136507391C>G	ENST00000393056.2	+	3	561	c.549C>G	c.(547-549)atC>atG	p.I183M		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	183					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.I183M(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TGGAGGCCATCAACGGCTCGG	0.647																																																1	Substitution - Missense(1)	ovary(1)	9											37	40	39					9																	136507391		2203	4300	6503	135497212	SO:0001583	missense	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.549C>G	9.37:g.136507391C>G	ENSP00000376776:p.Ile183Met		135497212	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729805	0.30684	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.51325	0.71;0.83	4.97	4.08	0.47627	DOMON domain (1);	0.054232	0.64402	D	0.000001	T	0.58308	0.2113	M	0.81802	2.56	0.46654	D	0.999145	P	0.46395	0.877	P	0.51415	0.669	T	0.61681	-0.7013	10	0.66056	D	0.02	-15.2886	8.3581	0.32342	0.0:0.7602:0.0:0.2398	.	183	P09172	DOPO_HUMAN	M	183;120;120	ENSP00000376776:I183M;ENSP00000263611:I120M	ENSP00000263611:I120M	I	+	3	3	DBH	135497212	1.000000	0.71417	0.997000	0.53966	0.077000	0.17291	1.391000	0.34475	1.096000	0.41439	-0.424000	0.05967	ATC		0.647	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		G	136507391	C	G	136507391	3	3	97	1	0	0	0	0	1	0	0	0	4250	816	29	3	559	3	DBH	9	136507391	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10		136507391	4706040	11	5208											
PPP2R5B	5526	hgsc.bcm.edu	37	11	64699341	64699341	+	Splice_Site	SNP	G	G	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr11:64699341G>T	ENST00000164133.2	+	11	1738		c.e11+1			NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.?(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCATTTCCAGGTATGAGGCAG	0.552																																																1	Unknown(1)	ovary(1)	11											55	55	55					11																	64699341		2201	4297	6498	64455917	SO:0001630	splice_region_variant	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.1116+1G>T	11.37:g.64699341G>T			64455917	Q13853	Splice_Site	SNP	ENST00000164133.2	37	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774261	0.69992	.	.	ENSG00000068971	ENST00000164133;ENST00000527441	.	.	.	3.74	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8614	0.63561	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R5B	64455917	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.137000	0.94496	2.394000	0.81467	0.455000	0.32223	.		0.552	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244	Intron	T	64699341	G	T	64699341	5	4	97	1	0	0	0	0	0	0	1	0	12396	1275	44	3	1155	3	PPP2R5B	11	64699341	Splice_Site	SNP	G	TCGA-13-0889-01A-01W-0419-10		64699341	70307175	12	5209											
KDM2A	22992	hgsc.bcm.edu	37	11	66983400	66983400	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr11:66983400C>T	ENST00000529006.2	+	8	1113	c.667C>T	c.(667-669)Cac>Tac	p.H223Y	KDM2A_ENST00000398645.2_Missense_Mutation_p.H223Y|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	223	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.H223Y(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGTTTGGTATCACATCCATCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											351	331	337					11																	66983400		1954	4154	6108	66739976	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.667C>T	11.37:g.66983400C>T	ENSP00000432786:p.His223Tyr		66739976	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228132	0.95173	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.70164	-0.46;-0.46	5.69	5.69	0.88448	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87285	0.2295	10	0.72032	D	0.01	-12.1794	18.8026	0.92023	0.0:1.0:0.0:0.0	.	223	Q9Y2K7	KDM2A_HUMAN	Y	223	ENSP00000381640:H223Y;ENSP00000432786:H223Y	ENSP00000381640:H223Y	H	+	1	0	KDM2A	66739976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.459000	0.80802	2.691000	0.91804	0.655000	0.94253	CAC		0.423	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		T	66983400	C	T	66983400	3	4	97	1	0	0	0	0	1	0	0	0	8124	826	29	2	693	2	KDM2A	11	66983400	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10	2284059	66983400	68023116	13	5210											
LRP1	4035	hgsc.bcm.edu	37	12	57570937	57570937	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr12:57570937G>A	ENST00000243077.3	+	25	4571	c.4105G>A	c.(4105-4107)Gag>Aag	p.E1369K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1369					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.E1369K(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGATCAGATCGAGGTGGCCAA	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											143	114	123					12																	57570937		2203	4300	6503	55857204	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4105G>A	12.37:g.57570937G>A	ENSP00000243077:p.Glu1369Lys		55857204	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546499	0.86022	.	.	ENSG00000123384	ENST00000243077	D	0.89415	-2.51	5.0	5.0	0.66597	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.93471	0.7917	M	0.83774	2.66	0.80722	D	1	D	0.60575	0.988	P	0.57548	0.823	D	0.93356	0.6722	10	0.45353	T	0.12	.	17.2315	0.86985	0.0:0.0:1.0:0.0	.	1369	Q07954	LRP1_HUMAN	K	1369	ENSP00000243077:E1369K	ENSP00000243077:E1369K	E	+	1	0	LRP1	55857204	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	9.648000	0.98483	2.602000	0.87976	0.462000	0.41574	GAG		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57570937	G	A	57570937	3	1	97	1	0	0	0	0	1	0	0	0	8951	1059	37	1	4203	1	LRP1	12	57570937	Missense_Mutation	SNP	G	TCGA-13-0889-01A-01W-0419-10		57570937	76280958	14	5211											
CCNA1	8900	hgsc.bcm.edu	37	13	37015329	37015329	+	Silent	SNP	T	T	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr13:37015329T>A	ENST00000255465.4	+	7	1437	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	CCNA1_ENST00000449823.1_Silent_p.A347A|CCNA1_ENST00000418263.1_Silent_p.A390A|CCNA1_ENST00000440264.1_Silent_p.A347A			P78396	CCNA1_HUMAN	cyclin A1	391	Poly-Ala.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.A391A(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTGCAGCAGCTTTTTGCCTGG	0.398																																																2	Substitution - coding silent(2)	ovary(2)	13											151	132	139					13																	37015329		2203	4300	6503	35913329	SO:0001819	synonymous_variant	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1173T>A	13.37:g.37015329T>A			35913329	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	CCDS9357.1																																																																																				0.398	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		A	37015329	T	A	37015329	2	1	97	1	0	0	0	0	0	0	0	1	2909	1596	56	5		5	CCNA1	13	37015329	Silent	SNP	T	TCGA-13-0889-01A-01W-0419-10		37015329	78154549	15	5212											
MYCBP2	23077	hgsc.bcm.edu	37	13	77695606	77695606	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr13:77695606G>A	ENST00000544440.2	-	55	7945	c.7928C>T	c.(7927-7929)tCt>tTt	p.S2643F	MYCBP2_ENST00000360084.5_Missense_Mutation_p.S106F|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2643F|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S2681F					MYC binding protein 2, E3 ubiquitin protein ligase									p.S2643F(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGTTTGAGAATTCTGATC	0.398																																																1	Substitution - Missense(1)	ovary(1)	13											83	82	82					13																	77695606		2203	4300	6503	76593607	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7928C>T	13.37:g.77695606G>A	ENSP00000444596:p.Ser2643Phe		76593607		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	15.56	2.869160	0.51588	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.46451	1.57;1.57;1.57;0.87	5.47	5.47	0.80525	.	0.500335	0.22661	N	0.057196	T	0.31451	0.0797	L	0.29908	0.895	0.29198	N	0.875424	B;B	0.27791	0.189;0.022	B;B	0.29440	0.102;0.012	T	0.27088	-1.0084	10	0.56958	D	0.05	.	9.1724	0.37091	0.0838:0.1501:0.7662:0.0	.	2643;2643	O75592-2;O75592	.;MYCB2_HUMAN	F	2643;2681;2643;106	ENSP00000349892:S2643F;ENSP00000384288:S2681F;ENSP00000444596:S2643F;ENSP00000353197:S106F	ENSP00000349892:S2643F	S	-	2	0	MYCBP2	76593607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.040000	0.49799	2.547000	0.85894	0.563000	0.77884	TCT		0.398	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		A	77695606	G	A	77695606	3	1	97	1	0	0	0	0	1	0	0	0	10018	942	33	2	6110	2	MYCBP2	13	77695606	Missense_Mutation	SNP	G	TCGA-13-0889-01A-01W-0419-10	40680277	77695606	37474272	16	5213											
C14orf159	80017	hgsc.bcm.edu	37	14	91639670	91639670	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr14:91639670G>T	ENST00000523771.1	+	6	1082	c.479G>T	c.(478-480)tGc>tTc	p.C160F	C14orf159_ENST00000520328.1_Missense_Mutation_p.C160F|C14orf159_ENST00000523816.1_Missense_Mutation_p.C160F|C14orf159_ENST00000412671.2_Missense_Mutation_p.C165F|C14orf159_ENST00000518868.1_Missense_Mutation_p.C165F|C14orf159_ENST00000256324.10_Missense_Mutation_p.C165F|C14orf159_ENST00000525393.2_Missense_Mutation_p.C36F|C14orf159_ENST00000522322.1_Missense_Mutation_p.C160F|C14orf159_ENST00000521077.2_Missense_Mutation_p.C165F|C14orf159_ENST00000428926.2_Missense_Mutation_p.C160F			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	160						mitochondrion (GO:0005739)		p.C160F(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GGCTTCTGCTGCCCTCTGGTG	0.507											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	14											68	62	64					14																	91639670		2203	4300	6503	90709423	SO:0001583	missense	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.479G>T	14.37:g.91639670G>T	ENSP00000429655:p.Cys160Phe	1284	90709423	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037048	0.54896	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.55	3.67	0.42095	.	0.118256	0.64402	D	0.000008	T	0.45357	0.1338	M	0.77103	2.36	0.51482	D	0.999924	P;P;P;P;P;P	0.47545	0.897;0.695;0.897;0.733;0.733;0.875	P;P;P;B;B;B	0.51918	0.568;0.528;0.684;0.432;0.432;0.432	T	0.49322	-0.8952	10	0.59425	D	0.04	.	11.1808	0.48627	0.0873:0.0:0.9127:0.0	.	160;36;165;160;165;165	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	F	160;165;165;165;165;165;160;165;36;160;160;160;165	ENSP00000429453:C160F;ENSP00000256324:C165F;ENSP00000430666:C165F;ENSP00000428296:C165F;ENSP00000430137:C165F;ENSP00000428263:C165F;ENSP00000428974:C160F;ENSP00000428652:C165F;ENSP00000435459:C36F;ENSP00000404343:C160F;ENSP00000427953:C160F;ENSP00000429655:C160F;ENSP00000404196:C165F	ENSP00000256324:C165F	C	+	2	0	C14orf159	90709423	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.581000	0.60949	1.261000	0.44149	-0.254000	0.11334	TGC		0.507	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		T	91639670	G	T	91639670	3	4	97	1	0	0	0	0	1	0	0	0	1755	1319	46	3	508	3	C14orf159	14	91639670	Missense_Mutation	SNP	G	TCGA-13-0889-01A-01W-0419-10		91639670	15709870	17	5214											
KIAA1409	57578	hgsc.bcm.edu	37	14	94120300	94120300	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr14:94120300C>T	ENST00000393151.2	+	38	6328	c.6328C>T	c.(6328-6330)Cgg>Tgg	p.R2110W	UNC79_ENST00000555664.1_Missense_Mutation_p.R2071W|UNC79_ENST00000256339.4_Missense_Mutation_p.R1933W|UNC79_ENST00000553484.1_Missense_Mutation_p.R2132W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2110					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1933W(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GACTTTTTTACGGACCTTAGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	14											174	159	164					14																	94120300		2203	4300	6503	93190053	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6328C>T	14.37:g.94120300C>T	ENSP00000376858:p.Arg2110Trp		93190053	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	19.61	3.860612	0.71834	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	L	0.53249	1.67	0.45899	D	0.998744	D	0.76494	0.999	D	0.76071	0.987	T	0.63037	-0.6726	10	0.87932	D	0	-15.8242	14.3727	0.66852	0.2678:0.7321:0.0:0.0	.	2132	C9JQL1	.	W	1933;2071;2132;2110;2132	ENSP00000256339:R1933W;ENSP00000450868:R2071W;ENSP00000451360:R2132W;ENSP00000376858:R2110W	ENSP00000256339:R1933W	R	+	1	2	KIAA1409	93190053	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.288000	0.33296	1.306000	0.44926	0.655000	0.94253	CGG		0.493	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94120300	C	T	94120300	3	4	97	1	0	0	0	0	1	0	0	0	8230	527	19	1	5935	1	KIAA1409	14	94120300	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10	2480630	94120300	13229240	18	5215											
IFT140	9742	hgsc.bcm.edu	37	16	1575305	1575305	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr16:1575305G>A	ENST00000426508.2	-	22	3154	c.2791C>T	c.(2791-2793)Cgc>Tgc	p.R931C	IFT140_ENST00000361339.5_Missense_Mutation_p.R125C	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	931					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.R931C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCTCGAAGCGGTGCGTGTCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											86	83	84					16																	1575305		2199	4300	6499	1515306	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2791C>T	16.37:g.1575305G>A	ENSP00000406012:p.Arg931Cys		1515306	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621503	0.28889	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.44083	0.93;0.93	5.34	3.18	0.36537	.	0.117941	0.52532	N	0.000066	T	0.32734	0.0839	L	0.48362	1.52	0.58432	D	0.999999	B;B	0.31351	0.076;0.32	B;B	0.27608	0.026;0.081	T	0.14035	-1.0487	10	0.36615	T	0.2	.	10.4205	0.44348	0.0835:0.0:0.7371:0.1794	.	931;618	Q96RY7;B4DR58	IF140_HUMAN;.	C	931;125;931	ENSP00000354895:R125C;ENSP00000406012:R931C	ENSP00000354895:R125C	R	-	1	0	IFT140	1515306	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	1.593000	0.36686	1.280000	0.44463	0.655000	0.94253	CGC		0.622	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1575305	G	A	1575305	3	1	97	1	0	0	0	0	1	0	0	0	7556	1116	39	1	1637	1	IFT140	16	1575305	Missense_Mutation	SNP	G	TCGA-13-0889-01A-01W-0419-10		1575305	88779448	19	5216											
TP53	7157	hgsc.bcm.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	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	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	97	1	0	0	0	0	1	0	0	0	16381	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-13-0889-01A-01W-0419-10		7577121	73618089	20	5217											
ERBB2	2064	hgsc.bcm.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)	17											251	204	220					17																	37868208		2203	4300	6503	35121734	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		35121734	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			T	37868208	C	T	37868208	3	4	97	1	0	0	0	0	1	0	0	0	5206	855	30	2	959	2	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10	30291087	37868208	43327002	21	5218											
MIB1	57534	hgsc.bcm.edu	37	18	19378064	19378064	+	Missense_Mutation	SNP	G	G	A	rs376378881		TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr18:19378064G>A	ENST00000261537.6	+	8	1376	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	371					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R371Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AAAGTTGGCCGAGTACAACAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	18						G	GLN/ARG	0,4406		0,0,2203	121	121	121		1112	5.2	1	18		121	1,8597	1.2+/-3.3	0,1,4298	no	missense	MIB1	NM_020774.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	371/1007	19378064	1,13003	2203	4299	6502	17632062	SO:0001583	missense	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1112G>A	18.37:g.19378064G>A	ENSP00000261537:p.Arg371Gln		17632062	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530688	0.85706	0.0	1.16E-4	ENSG00000101752	ENST00000261537	T	0.37915	1.17	5.2	5.2	0.72013	.	0.063642	0.64402	D	0.000009	T	0.37348	0.1000	M	0.78801	2.425	0.58432	D	0.999999	P	0.48998	0.918	B	0.29524	0.103	T	0.54820	-0.8236	10	0.56958	D	0.05	-9.7576	19.0978	0.93260	0.0:0.0:1.0:0.0	.	371	Q86YT6	MIB1_HUMAN	Q	371	ENSP00000261537:R371Q	ENSP00000261537:R371Q	R	+	2	0	MIB1	17632062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.796000	0.99103	2.584000	0.87258	0.603000	0.83216	CGA		0.368	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		A	19378064	G	A	19378064	3	1	97	1	0	0	0	0	1	0	0	0	9566	1058	37	1	1142	1	MIB1	18	19378064	Missense_Mutation	SNP	G	TCGA-13-0889-01A-01W-0419-10		19378064	58699184	22	5219											
ZNF407	55628	hgsc.bcm.edu	37	18	72343013	72343013	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chr18:72343013A>G	ENST00000299687.5	+	1	38	c.38A>G	c.(37-39)gAt>gGt	p.D13G	ZNF407_ENST00000309902.6_Missense_Mutation_p.D13G|ZNF407_ENST00000582337.1_Missense_Mutation_p.D13G|ZNF407_ENST00000577538.1_Missense_Mutation_p.D13G	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D13G(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AATGATGAGGATGAAAAGATA	0.408																																																1	Substitution - Missense(1)	ovary(1)	18											57	54	55					18																	72343013		1887	4109	5996	70472001	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.38A>G	18.37:g.72343013A>G	ENSP00000299687:p.Asp13Gly		70472001	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	8.080	0.772078	0.16051	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.18016	2.24;2.54	5.06	1.26	0.21427	.	.	.	.	.	T	0.10078	0.0247	L	0.34521	1.04	0.33792	D	0.625641	B;B;B	0.11235	0.004;0.004;0.0	B;B;B	0.13407	0.009;0.009;0.001	T	0.20438	-1.0275	9	0.30854	T	0.27	.	1.4137	0.02297	0.3983:0.147:0.3128:0.1419	.	13;13;13	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	G	13	ENSP00000299687:D13G;ENSP00000310359:D13G	ENSP00000299687:D13G	D	+	2	0	ZNF407	70472001	0.990000	0.36364	0.872000	0.34217	0.095000	0.18619	0.458000	0.21892	0.278000	0.22164	0.533000	0.62120	GAT		0.408	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		G	72343013	A	G	72343013	3	3	97	1	0	0	0	0	1	0	0	0	17887	333	12	4	40	4	ZNF407	18	72343013	Missense_Mutation	SNP	A	TCGA-13-0889-01A-01W-0419-10	52964949	72343013	5734235	23	5220											
MAP7D2	256714	hgsc.bcm.edu	37	X	20043112	20043112	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chrX:20043112C>T	ENST00000379651.3	-	9	1264	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MAP7D2_ENST00000452324.3_Missense_Mutation_p.E364K|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Missense_Mutation_p.E457K|MAP7D2_ENST00000543767.1_Missense_Mutation_p.E301K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.E371K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	416					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.E416K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCCTCCTGTTCCTTCTGCAGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											316	250	272					X																	20043112		2203	4300	6503	19953033	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1246G>A	X.37:g.20043112C>T	ENSP00000368972:p.Glu416Lys		19953033	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508449	0.85282	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.78223	2.4	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.998;0.997	T	0.63545	-0.6613	10	0.48119	T	0.1	-19.4326	15.7827	0.78272	0.0:1.0:0.0:0.0	.	371;364;457;416;301	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	K	416;457;301;371;99;364	ENSP00000368972:E416K;ENSP00000368964:E457K;ENSP00000440691:E301K;ENSP00000388239:E371K;ENSP00000413301:E364K	ENSP00000368964:E457K	E	-	1	0	MAP7D2	19953033	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.663000	0.74431	2.323000	0.78572	0.600000	0.82982	GAA		0.522	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		T	20043112	C	T	20043112	3	4	97	1	0	0	0	0	1	0	0	0	9268	864	30	2	980	2	MAP7D2	23	20043112	Missense_Mutation	SNP	C	TCGA-13-0889-01A-01W-0419-10		20043112	135227448	24	5221											
FAM123B	139285	hgsc.bcm.edu	37	X	63412538	63412538	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chrX:63412538G>A	ENST00000330258.3	-	2	901	c.629C>T	c.(628-630)tCa>tTa	p.S210L	AMER1_ENST00000374869.3_Missense_Mutation_p.S210L|AMER1_ENST00000403336.1_Missense_Mutation_p.S210L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	210					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.S210*(3)|p.S210L(1)									CTGAGGGGCTGAGCTCACGTG	0.602																																																71	Whole gene deletion(67)|Substitution - Nonsense(3)|Substitution - Missense(1)	kidney(68)|ovary(2)|large_intestine(1)	X											50	46	47					X																	63412538		2202	4297	6499	63329263	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.629C>T	X.37:g.63412538G>A	ENSP00000329117:p.Ser210Leu		63329263	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	8.679	0.904626	0.17760	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.35236	1.32;1.32;1.32	5.13	5.13	0.70059	.	3.082560	0.00853	N	0.001844	T	0.51601	0.1684	L	0.46157	1.445	0.09310	N	1	P	0.51147	0.942	P	0.57057	0.812	T	0.43956	-0.9359	10	0.16896	T	0.51	-0.3726	12.7911	0.57534	0.0:0.1618:0.8382:0.0	.	210	Q5JTC6	F123B_HUMAN	L	210	ENSP00000364003:S210L;ENSP00000329117:S210L;ENSP00000384722:S210L	ENSP00000329117:S210L	S	-	2	0	FAM123B	63329263	0.379000	0.25123	0.016000	0.15963	0.112000	0.19704	2.061000	0.41403	2.508000	0.84585	0.600000	0.82982	TCA		0.602	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		A	63412538	G	A	63412538	3	1	97	1	0	0	0	0	1	0	0	0	5423	1294	45	2	2782	2	FAM123B	23	63412538	Missense_Mutation	SNP	G	TCGA-13-0889-01A-01W-0419-10	43369426	63412538	91858022	25	5222											
ATRX	546	hgsc.bcm.edu	37	X	76777847	76777847	+	Missense_Mutation	SNP	T	T	C	rs368498507		TCGA-13-0889-01A-01W-0419-10	TCGA-13-0889-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b5ccbd8d-caeb-4eaa-bcd1-5a394253f23f	56ca8dfa-39ca-4f14-adf7-eaf9b04a8745	g.chrX:76777847T>C	ENST00000373344.5	-	32	7083	c.6869A>G	c.(6868-6870)aAc>aGc	p.N2290S	ATRX_ENST00000395603.3_Missense_Mutation_p.N2252S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2290					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.N2290S(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTTGGTATGTTGAAACGCAT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Substitution - Missense(1)	ovary(1)	X						T	SER/ASN,SER/ASN	0,3835		0,0,1632,571	83	78	80		6869,6755	5.7	1	X		80	2,6721		0,2,2425,1869	no	missense,missense	ATRX	NM_000489.3,NM_138270.2	46,46	0,2,4057,2440	CC,CT,TT,T		0.0297,0.0,0.0189	possibly-damaging,possibly-damaging	2290/2493,2252/2455	76777847	2,10556	2203	4296	6499	76664503	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6869A>G	X.37:g.76777847T>C	ENSP00000362441:p.Asn2290Ser		76664503	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.495320	0.44352	0.0	2.97E-4	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92495	-3.04;-3.05	5.65	5.65	0.86999	.	0.128620	0.49916	U	0.000138	D	0.93187	0.7830	L	0.29908	0.895	0.80722	D	1	D;P	0.89917	1.0;0.905	D;P	0.83275	0.996;0.543	D	0.93564	0.6898	10	0.49607	T	0.09	-8.5523	14.8945	0.70633	0.0:0.0:0.0:1.0	.	2252;2290	P46100-4;P46100	.;ATRX_HUMAN	S	2290;2252	ENSP00000362441:N2290S;ENSP00000378967:N2252S	ENSP00000362441:N2290S	N	-	2	0	ATRX	76664503	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.335000	0.65929	1.900000	0.55004	0.350000	0.21858	AAC		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		C	76777847	T	C	76777847	3	2	97	1	0	0	0	0	1	0	0	0	1208	1725	60	4	625	4	ATRX	23	76777847	Missense_Mutation	SNP	T	TCGA-13-0889-01A-01W-0419-10	13365309	76777847	78492713	26	5223											
KCNA10	3744	genome.wustl.edu	37	1	111060744	111060744	+	Silent	SNP	C	C	G	rs36028106	byFrequency	TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr1:111060744C>G	ENST00000369771.2	-	1	1053	c.666G>C	c.(664-666)tcG>tcC	p.S222S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	222					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.S222S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CAACCAACACCGAGACCACGG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	1											113	106	108					1																	111060744		2203	4300	6503	110862267	SO:0001819	synonymous_variant	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.666G>C	1.37:g.111060744C>G			110862267		Silent	SNP	ENST00000369771.2	37	CCDS826.1																																																																																				0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		G	111060744	C	G	111060744	2	3	98	1	0	0	0	0	0	0	0	1	8002	639	23	3		3	KCNA10	1	111060744	Silent	SNP	C	TCGA-13-0890-01A-01W-0421-09		111060744	138189877	1	5224											
OVGP1	5016	genome.wustl.edu	37	1	111969249	111969249	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr1:111969249G>C	ENST00000369732.3	-	3	125	c.70C>G	c.(70-72)Ctc>Gtc	p.L24V	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	24					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.L24V(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TAACACACGAGTTTATGGGCA	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											62	58	59					1																	111969249		2203	4300	6503	111770772	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.70C>G	1.37:g.111969249G>C	ENSP00000358747:p.Leu24Val		111770772	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636645	0.47049	.	.	ENSG00000085465	ENST00000369732;ENST00000369728	T	0.04603	3.59	4.57	3.65	0.41850	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.057388	0.64402	D	0.000001	T	0.03871	0.0109	N	0.17379	0.485	0.80722	D	1	P;P	0.51653	0.947;0.947	D;D	0.66497	0.944;0.944	T	0.55749	-0.8092	10	0.32370	T	0.25	-14.3635	10.5684	0.45186	0.0957:0.0:0.9043:0.0	.	24;24	B2RA77;Q12889	.;OVGP1_HUMAN	V	24;66	ENSP00000358747:L24V	ENSP00000358743:L66V	L	-	1	0	OVGP1	111770772	1.000000	0.71417	0.997000	0.53966	0.799000	0.45148	3.586000	0.53950	1.260000	0.44134	0.491000	0.48974	CTC		0.547	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		C	111969249	G	C	111969249	3	2	98	1	0	0	0	0	1	0	0	0	11325	1029	36	3	2002	3	OVGP1	1	111969249	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09	908505	111969249	137281372	2	5225											
NUP210L	91181	genome.wustl.edu	37	1	154033062	154033062	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr1:154033062T>G	ENST00000368559.3	-	20	2875	c.2804A>C	c.(2803-2805)cAg>cCg	p.Q935P	NUP210L_ENST00000271854.3_Missense_Mutation_p.Q935P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	935					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.Q935P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GACAACACCCTGCTCACTGCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											128	118	121					1																	154033062		1901	4137	6038	152299686	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2804A>C	1.37:g.154033062T>G	ENSP00000357547:p.Gln935Pro		152299686	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740884	0.30865	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06528	3.55;3.29	5.14	5.14	0.70334	.	0.111651	0.39759	N	0.001270	T	0.03871	0.0109	L	0.56769	1.78	0.33337	D	0.569311	D;P	0.55385	0.971;0.915	B;B	0.42062	0.374;0.374	T	0.42120	-0.9470	10	0.33940	T	0.23	-29.6291	12.5793	0.56381	0.0:0.0:0.0:1.0	.	935;935	E7EP56;Q5VU65	.;P210L_HUMAN	P	935	ENSP00000357547:Q935P;ENSP00000271854:Q935P	ENSP00000271854:Q935P	Q	-	2	0	NUP210L	152299686	0.000000	0.05858	0.911000	0.35937	0.482000	0.33219	0.183000	0.16919	2.161000	0.67846	0.533000	0.62120	CAG		0.418	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		G	154033062	T	G	154033062	3	3	98	1	0	0	0	0	1	0	0	0	10761	1580	55	5	2946	5	NUP210L	1	154033062	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09	42063813	154033062	95217559	3	5226											
NUP210L	91181	genome.wustl.edu	37	1	154098925	154098925	+	Silent	SNP	T	T	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr1:154098925T>C	ENST00000368559.3	-	10	1271	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	NUP210L_ENST00000271854.3_Silent_p.T400T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	400					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.T400T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAAAGTCGTATGTAATCCTGA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	1											127	113	117					1																	154098925		1875	4119	5994	152365549	SO:0001819	synonymous_variant	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1200A>G	1.37:g.154098925T>C			152365549	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	CCDS41399.1																																																																																				0.378	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		C	154098925	T	C	154098925	2	2	98	1	0	0	0	0	0	0	0	1	10761	1451	51	4		4	NUP210L	1	154098925	Silent	SNP	T	TCGA-13-0890-01A-01W-0421-09	65863	154098925	95151696	4	5227											
OBSCN	84033	genome.wustl.edu	37	1	228433206	228433206	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr1:228433206C>G	ENST00000422127.1	+	12	3618	c.3574C>G	c.(3574-3576)Cag>Gag	p.Q1192E	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1192E|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q1284E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1192	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.Q1192E(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGTGGCCCAGCCCCAGAC	0.597																																																2	Substitution - Missense(2)	ovary(2)	1											83	83	83					1																	228433206		2088	4200	6288	226499829	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3574C>G	1.37:g.228433206C>G	ENSP00000409493:p.Gln1192Glu		226499829	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	11.10	1.540208	0.27563	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04502	3.61;3.61	4.39	1.04	0.20106	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.342558	0.28187	N	0.016280	T	0.04634	0.0126	N	0.17278	0.47	0.80722	D	1	P;D	0.53745	0.951;0.962	P;P	0.55785	0.6;0.784	T	0.38520	-0.9657	10	0.02654	T	1	.	9.2574	0.37593	0.0:0.6732:0.2471:0.0797	.	1192;1192	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	E	1192	ENSP00000284548:Q1192E;ENSP00000409493:Q1192E	ENSP00000284548:Q1192E	Q	+	1	0	OBSCN	226499829	1.000000	0.71417	0.973000	0.42090	0.237000	0.25408	3.714000	0.54889	0.842000	0.35045	0.306000	0.20318	CAG		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228433206	C	G	228433206	3	3	98	1	0	0	0	0	1	0	0	0	10812	595	21	3	3616	3	OBSCN	1	228433206	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09	74334281	228433206	20817415	5	5228											
OR2W5	441932	genome.wustl.edu	37	1	247654759	247654759	+	RNA	SNP	C	C	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr1:247654759C>A	ENST00000522351.1	+	0	390							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T110T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGCTCCACCGAGTGCGTCC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	1											97	93	94					1																	247654759		2203	4300	6503	245721382			441932					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654759C>A			245721382	B9EH85	Silent	SNP	ENST00000522351.1	37																																																																																					0.607	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		A	247654759	C	A	247654759	1	1	98	0	1	0	0	0	0	0	0	0	11034	639	23	3		3	OR2W5	1	247654759	RNA	SNP	C	TCGA-13-0890-01A-01W-0421-09	19221553	247654759	1595862	6	5229											
IFT172	26160	genome.wustl.edu	37	2	27708306	27708306	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr2:27708306G>A	ENST00000260570.3	-	2	207	c.104C>T	c.(103-105)aCa>aTa	p.T35I	IFT172_ENST00000416524.2_Missense_Mutation_p.T14I|IFT172_ENST00000359466.6_Missense_Mutation_p.T35I	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	35					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.T35I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGGTCCACTGTGCAGACAGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											183	163	170					2																	27708306		2203	4300	6503	27561810	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.104C>T	2.37:g.27708306G>A	ENSP00000260570:p.Thr35Ile		27561810	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027713	0.93518	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.67345	-0.26;-0.26;1.52	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85008	0.5599	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.76494	0.992;0.998;0.998;0.998;0.999	P;D;D;D;D	0.75020	0.876;0.985;0.975;0.985;0.984	D	0.87282	0.2293	10	0.87932	D	0	-5.6046	18.4654	0.90752	0.0:0.0:1.0:0.0	.	35;35;35;35;35	B4E3C1;A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;.;IF172_HUMAN	I	35;35;14	ENSP00000260570:T35I;ENSP00000352443:T35I;ENSP00000407408:T14I	ENSP00000260570:T35I	T	-	2	0	IFT172	27561810	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.816000	0.75247	2.707000	0.92482	0.557000	0.71058	ACA		0.473	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		A	27708306	G	A	27708306	3	1	98	1	0	0	0	0	1	0	0	0	7557	1377	48	2	5333	2	IFT172	2	27708306	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09		27708306	215491067	7	5230											
MPHOSPH10	10199	genome.wustl.edu	37	2	71377105	71377105	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr2:71377105A>G	ENST00000244230.2	+	11	2358	c.2006A>G	c.(2005-2007)aAg>aGg	p.K669R		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	669	Poly-Lys.				negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.K669R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAGAAAAAGAAGAAAAGACAG	0.264																																																1	Substitution - Missense(1)	ovary(1)	2											46	46	46					2																	71377105		2198	4294	6492	71230613	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.2006A>G	2.37:g.71377105A>G	ENSP00000244230:p.Lys669Arg		71230613	A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112713	0.77210	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.22945	2.62;1.93	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.54323	1.7	0.58432	D	0.999999	P	0.48503	0.911	B	0.42282	0.382	T	0.02975	-1.1087	10	0.44086	T	0.13	.	14.2033	0.65719	1.0:0.0:0.0:0.0	.	669	O00566	MPP10_HUMAN	R	669;529	ENSP00000244230:K669R;ENSP00000393034:K529R	ENSP00000244230:K669R	K	+	2	0	MPHOSPH10	71230613	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	5.465000	0.66725	2.306000	0.77630	0.482000	0.46254	AAG		0.264	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		G	71377105	A	G	71377105	3	3	98	1	0	0	0	0	1	0	0	0	9725	72	3	4	2048	4	MPHOSPH10	2	71377105	Missense_Mutation	SNP	A	TCGA-13-0890-01A-01W-0421-09	43668799	71377105	171822268	8	5231											
THNSL2	55258	genome.wustl.edu	37	2	88485424	88485424	+	Silent	SNP	C	C	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr2:88485424C>A	ENST00000324166.5	+	8	2928	c.1237C>A	c.(1237-1239)Cgg>Agg	p.R413R	THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000449349.1_Silent_p.P238P|THNSL2_ENST00000377254.3_Missense_Mutation_p.P362Q|THNSL2_ENST00000358591.2_Silent_p.R413R|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	413					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.R413R(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CAGCACTCCCCGGTGCTGCCT	0.617																																																1	Substitution - coding silent(1)	ovary(1)	2											15	18	17					2																	88485424		2116	4238	6354	88266539	SO:0001819	synonymous_variant	55258				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1237C>A	2.37:g.88485424C>A			88266539	B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721722	0.30503	.	.	ENSG00000144115	ENST00000377254;ENST00000544063	T	0.12879	2.64	5.98	0.21	0.15231	.	.	.	.	.	T	0.08846	0.0219	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25187	-1.0139	8	0.23302	T	0.38	.	10.6562	0.45675	0.5571:0.3746:0.0:0.0683	.	204	A8K0C1	.	Q	362;204	ENSP00000366464:P362Q	ENSP00000366464:P362Q	P	+	2	0	THNSL2	88266539	0.984000	0.35163	0.616000	0.29078	0.861000	0.49209	0.465000	0.22004	0.081000	0.16988	0.655000	0.94253	CCG		0.617	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		A	88485424	C	A	88485424	2	1	98	1	0	0	0	0	0	0	0	1	15863	643	23	3		3	THNSL2	2	88485424	Silent	SNP	C	TCGA-13-0890-01A-01W-0421-09	17108319	88485424	154713949	9	5232											
BOLL	66037	genome.wustl.edu	37	2	198631309	198631309	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr2:198631309A>C	ENST00000392296.4	-	7	808	c.499T>G	c.(499-501)Tcc>Gcc	p.S167A	BOLL_ENST00000430004.1_Missense_Mutation_p.S167A|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000321801.7_Missense_Mutation_p.S179A|BOLL_ENST00000282278.8_Missense_Mutation_p.S58A|BOLL_ENST00000433157.1_Missense_Mutation_p.S167A	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	167	DAZ-like.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.S167A(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ATCACAGGGGAGCTACATACA	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											69	73	71					2																	198631309		2203	4300	6503	198339554	SO:0001583	missense	66037				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.499T>G	2.37:g.198631309A>C	ENSP00000376116:p.Ser167Ala		198339554	B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377246	0.61735	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.29655	1.56;1.78;1.77;1.78	4.63	4.63	0.57726	.	0.091045	0.46145	D	0.000315	T	0.39759	0.1090	N	0.24115	0.695	0.31207	N	0.699138	D;P;D;B;B	0.64830	0.99;0.785;0.994;0.307;0.074	D;P;D;B;B	0.72982	0.979;0.488;0.923;0.116;0.029	T	0.44907	-0.9297	10	0.87932	D	0	-19.7686	12.4045	0.55432	1.0:0.0:0.0:0.0	.	58;173;179;167;173	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	A	167;167;179;58;167	ENSP00000397711:S167A;ENSP00000376116:S167A;ENSP00000314792:S179A;ENSP00000396099:S167A	ENSP00000282278:S58A	S	-	1	0	BOLL	198339554	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.848000	0.55903	1.948000	0.56530	0.482000	0.46254	TCC		0.338	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		C	198631309	A	C	198631309	3	2	98	1	0	0	0	0	1	0	0	0	1487	304	11	5	372	5	BOLL	2	198631309	Missense_Mutation	SNP	A	TCGA-13-0890-01A-01W-0421-09	110145885	198631309	44568064	10	5233											
TBC1D5	9779	genome.wustl.edu	37	3	17279813	17279813	+	Missense_Mutation	SNP	C	C	G	rs373670416		TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr3:17279813C>G	ENST00000253692.7	-	17	3094	c.1430G>C	c.(1429-1431)aGt>aCt	p.S477T	TBC1D5_ENST00000429924.2_Missense_Mutation_p.S429T|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S477T|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S477T	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	477						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.S477T(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GCCACCTGCACTGCCTGGAGC	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											52	48	49					3																	17279813		2203	4300	6503	17254817	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1430G>C	3.37:g.17279813C>G	ENSP00000253692:p.Ser477Thr		17254817	A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	3.798	-0.042225	0.07452	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.49139	1.41;1.41;1.36;0.79	5.78	2.62	0.31277	.	0.536322	0.23569	N	0.046766	T	0.28433	0.0703	L	0.40543	1.245	0.23913	N	0.996484	B;P;B;B	0.37914	0.049;0.611;0.104;0.104	B;B;B;B	0.26517	0.022;0.07;0.051;0.051	T	0.10154	-1.0642	10	0.23891	T	0.37	-3.2761	6.9448	0.24512	0.0:0.6598:0.1461:0.1941	.	429;477;477;477	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	T	477;477;477;429	ENSP00000253692:S477T;ENSP00000398127:S477T;ENSP00000402935:S477T;ENSP00000411925:S429T	ENSP00000253692:S477T	S	-	2	0	TBC1D5	17254817	0.002000	0.14202	0.469000	0.27204	0.062000	0.15995	1.646000	0.37249	0.777000	0.33496	-0.315000	0.08773	AGT		0.502	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		G	17279813	C	G	17279813	3	3	98	1	0	0	0	0	1	0	0	0	15623	565	20	3	1051	3	TBC1D5	3	17279813	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09		17279813	180742617	11	5234											
GPR149	344758	genome.wustl.edu	37	3	154146603	154146603	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr3:154146603A>C	ENST00000389740.2	-	1	901	c.802T>G	c.(802-804)Tct>Gct	p.S268A		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	268					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S268A(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAGCTCGGAGAGCATCCCCCA	0.672																																																1	Substitution - Missense(1)	ovary(1)	3											30	34	33					3																	154146603		1879	4118	5997	155629297	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.802T>G	3.37:g.154146603A>C	ENSP00000374390:p.Ser268Ala		155629297		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	7.461	0.644741	0.14451	.	.	ENSG00000174948	ENST00000389740	T	0.28666	1.6	4.61	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.387540	0.29355	N	0.012385	T	0.21427	0.0516	L	0.50333	1.59	0.27279	N	0.958158	B	0.11235	0.004	B	0.12156	0.007	T	0.26985	-1.0087	10	0.08381	T	0.77	-4.558	7.5059	0.27545	0.7207:0.1335:0.0:0.1458	.	268	Q86SP6	GP149_HUMAN	A	268	ENSP00000374390:S268A	ENSP00000374390:S268A	S	-	1	0	GPR149	155629297	0.009000	0.17119	0.867000	0.34043	0.077000	0.17291	0.928000	0.28831	0.783000	0.33636	0.533000	0.62120	TCT		0.672	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		C	154146603	A	C	154146603	3	2	98	1	0	0	0	0	1	0	0	0	6654	304	11	5	1409	5	GPR149	3	154146603	Missense_Mutation	SNP	A	TCGA-13-0890-01A-01W-0421-09	136866790	154146603	43875827	12	5235											
TNIK	23043	genome.wustl.edu	37	3	170857307	170857307	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr3:170857307C>A	ENST00000436636.2	-	14	1715	c.1371G>T	c.(1369-1371)caG>caT	p.Q457H	TNIK_ENST00000475336.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000284483.8_Missense_Mutation_p.Q457H|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000488470.1_Missense_Mutation_p.Q457H|TNIK_ENST00000460047.1_Missense_Mutation_p.Q457H|TNIK_ENST00000538048.1_Missense_Mutation_p.Q457H|TNIK_ENST00000369326.5_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	457	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Q457H(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGATCTCTAACTGTCTCTGCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	3											197	189	191					3																	170857307		1988	4178	6166	172340001	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1371G>T	3.37:g.170857307C>A	ENSP00000399511:p.Gln457His		172340001	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	8.991	0.977725	0.18812	.	.	ENSG00000154310	ENST00000436636;ENST00000538048;ENST00000284483;ENST00000460047;ENST00000488470	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	N	0.19112	0.55	0.58432	D	0.999993	B;B;B;B	0.09022	0.002;0.002;0.002;0.001	B;B;B;B	0.09377	0.004;0.004;0.004;0.002	T	0.11372	-1.0590	10	0.08381	T	0.77	.	19.6717	0.95914	0.0:1.0:0.0:0.0	.	457;457;457;457	Q9UKE5-7;Q9UKE5-4;Q9UKE5-3;Q9UKE5	.;.;.;TNIK_HUMAN	H	457	ENSP00000399511:Q457H;ENSP00000443278:Q457H;ENSP00000284483:Q457H;ENSP00000418916:Q457H;ENSP00000418378:Q457H	ENSP00000284483:Q457H	Q	-	3	2	TNIK	172340001	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.592000	0.46171	2.648000	0.89879	0.591000	0.81541	CAG		0.463	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		A	170857307	C	A	170857307	3	1	98	1	0	0	0	0	1	0	0	0	16313	564	20	3	2791	3	TNIK	3	170857307	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09	16710704	170857307	27165123	13	5236											
PIK3CA	5290	genome.wustl.edu	37	3	178928344	178928344	+	Silent	SNP	C	C	T	rs200934230		TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr3:178928344C>T	ENST00000263967.3	+	9	1687	c.1530C>T	c.(1528-1530)caC>caT	p.H510H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	510					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H510H(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GCTATTCCCACGCAGGACTGG	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	2	Substitution - coding silent(2)	large_intestine(1)|ovary(1)	3						C		2,3776		0,2,1887	138	128	131		1530	0.3	1	3		131	0,8222		0,0,4111	no	coding-synonymous	PIK3CA	NM_006218.2		0,2,5998	TT,TC,CC		0.0,0.0529,0.0167		510/1069	178928344	2,11998	1889	4111	6000	180411038	SO:0001819	synonymous_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1530C>T	3.37:g.178928344C>T			180411038	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178928344	C	T	178928344	2	4	98	1	0	0	0	0	0	0	0	1	11913	535	19	1		1	PIK3CA	3	178928344	Silent	SNP	C	TCGA-13-0890-01A-01W-0421-09	8071037	178928344	19094086	14	5237											
LAMP3	27074	genome.wustl.edu	37	3	182870292	182870292	+	Splice_Site	SNP	C	C	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr3:182870292C>G	ENST00000265598.3	-	3	1015		c.e3-1		LAMP3_ENST00000466939.1_Splice_Site	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3						cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTGAAAAAACCTAAATCAAGT	0.453																																																1	Unknown(1)	ovary(1)	3											162	169	167					3																	182870292		2203	4300	6503	184352986	SO:0001630	splice_region_variant	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.760-1G>C	3.37:g.182870292C>G			184352986	D3DNS4|O94781|Q8NEC8	Splice_Site	SNP	ENST00000265598.3	37	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004599	0.54254	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	.	.	.	4.99	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5211	0.39135	0.0:0.9044:0.0:0.0956	.	.	.	.	.	-1	.	.	.	-	.	.	LAMP3	184352986	1.000000	0.71417	0.967000	0.41034	0.873000	0.50193	3.229000	0.51278	1.473000	0.48159	0.650000	0.86243	.		0.453	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1		Intron	G	182870292	C	G	182870292	5	3	98	1	0	0	0	0	0	0	1	0	8619	695	24	3	507	3	LAMP3	3	182870292	Splice_Site	SNP	C	TCGA-13-0890-01A-01W-0421-09	3941948	182870292	15152138	15	5238											
EVC2	132884	genome.wustl.edu	37	4	5627605	5627616	+	In_Frame_Del	DEL	TTCCATTTGGTC	TTCCATTTGGTC	-			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	TTCCATTTGGTC	TTCCATTTGGTC	TTCCATTTGGTC	-	TTCCATTTGGTC	TTCCATTTGGTC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr4:5627605_5627616delTTCCATTTGGTC	ENST00000344408.5	-	13	1959_1970	c.1906_1917delGACCAAATGGAA	c.(1906-1917)gaccaaatggaadel	p.DQME636del	EVC2_ENST00000344938.1_In_Frame_Del_p.DQME636del|EVC2_ENST00000310917.2_In_Frame_Del_p.DQME556del	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	636					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D636_E639del(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCAATAGCATTTCCATTTGGTCTTCATCCAGG	0.406																																																1	Deletion - In frame(1)	ovary(1)	4																																								5678517	SO:0001651	inframe_deletion	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1906_1917delGACCAAATGGAA	4.37:g.5627605_5627616delTTCCATTTGGTC	ENSP00000342144:p.Asp636_Glu639del		5678506	Q86YT3|Q86YT4|Q8NG49	In_Frame_Del	DEL	ENST00000344408.5	37	CCDS3382.2																																																																																				0.406	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		-	5627616	TTCCATTTGGTC	-	5627605	7	5	98	1	0	1	0	1	0	0	0	0	5286	1838	64	0	2049	0	EVC2	4	5627605	In_Frame_Del	DEL	TTCCATTTGGTC	TCGA-13-0890-01A-01W-0421-09		5627605	185526671	16	5239											
NEK1	4750	genome.wustl.edu	37	4	170476982	170476982	+	Missense_Mutation	SNP	C	C	T	rs201793759		TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr4:170476982C>T	ENST00000439128.2	-	17	2091	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.R484H	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	484					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R484H(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATCCTGGACGAACTCCAGG	0.413																																																1	Substitution - Missense(1)	ovary(1)	4						C	HIS/ARG,,,,HIS/ARG	1,3709		0,1,1854	103	98	100		1451,,,,1451	1.7	1	4		100	0,8188		0,0,4094	yes	missense,intron,intron,intron,missense	NEK1	NM_001199397.1,NM_001199398.1,NM_001199399.1,NM_001199400.1,NM_012224.2	29,,,,29	0,1,5948	TT,TC,CC		0.0,0.027,0.0084	benign,,,,benign	484/1287,,,,484/1259	170476982	1,11897	1855	4094	5949	170713557	SO:0001583	missense	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1451G>A	4.37:g.170476982C>T	ENSP00000408020:p.Arg484His		170713557	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392102	0.25118	2.7E-4	0.0	ENSG00000137601	ENST00000439128;ENST00000507142	T;T	0.69306	-0.36;-0.39	5.67	1.72	0.24424	.	0.759582	0.11965	N	0.512390	T	0.45498	0.1345	N	0.22421	0.69	0.80722	D	1	B;B;B	0.13594	0.001;0.008;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.16600	-1.0397	10	0.09084	T	0.74	.	7.1435	0.25570	0.1256:0.6156:0.0:0.2588	.	484;484;484	Q96PY6-5;Q96PY6-3;Q96PY6	.;.;NEK1_HUMAN	H	484	ENSP00000408020:R484H;ENSP00000424757:R484H	ENSP00000408020:R484H	R	-	2	0	NEK1	170713557	0.998000	0.40836	0.982000	0.44146	0.990000	0.78478	0.459000	0.21908	0.001000	0.14605	0.591000	0.81541	CGT		0.413	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			T	170476982	C	T	170476982	3	4	98	1	0	0	0	0	1	0	0	0	10321	536	19	1	2397	1	NEK1	4	170476982	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09	164849377	170476982	20677294	17	5240											
SORBS2	8470	genome.wustl.edu	37	4	186536052	186536052	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr4:186536052T>C	ENST00000284776.7	-	17	3325	c.2816A>G	c.(2815-2817)gAa>gGa	p.E939G	SORBS2_ENST00000437304.2_Missense_Mutation_p.E663G|SORBS2_ENST00000355634.5_Missense_Mutation_p.E1039G|SORBS2_ENST00000449407.2_Missense_Mutation_p.E483G|SORBS2_ENST00000393528.3_Missense_Mutation_p.E505G|SORBS2_ENST00000431808.1_Missense_Mutation_p.E939G|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.E843G|SORBS2_ENST00000448662.2_Missense_Mutation_p.E500G|SORBS2_ENST00000319471.9_Missense_Mutation_p.E570G	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	939	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E939G(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTCTCCGATTTCTCCGGGCTG	0.463																																					Esophageal Squamous(153;41 2433 9491 36028)											1	Substitution - Missense(1)	ovary(1)	4											152	163	159					4																	186536052		2203	4300	6503	186773046	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2816A>G	4.37:g.186536052T>C	ENSP00000284776:p.Glu939Gly		186773046	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025142	0.75390	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974	T;T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;2.56	6.16	6.16	0.99307	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;0.995;1.0;1.0;0.992;0.999;1.0;1.0;0.988;0.997;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.986;0.999;0.993;0.993;0.985;0.997;0.993;0.979;0.998;0.963;0.993;0.92;0.991;0.99	T	0.47433	-0.9118	10	0.87932	D	0	-24.7823	16.8061	0.85666	0.0:0.0:0.0:1.0	.	505;500;843;331;388;530;1039;939;483;663;500;530;484;505	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	G	939;500;939;843;663;570;483;1039;505;530;288	ENSP00000284776:E939G;ENSP00000409158:E500G;ENSP00000411764:E939G;ENSP00000397482:E843G;ENSP00000396008:E663G;ENSP00000322182:E570G;ENSP00000397262:E483G;ENSP00000347852:E1039G;ENSP00000377162:E505G;ENSP00000321983:E530G;ENSP00000401818:E288G	ENSP00000284776:E939G	E	-	2	0	SORBS2	186773046	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	6.139000	0.71728	2.367000	0.80283	0.528000	0.53228	GAA		0.463	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		C	186536052	T	C	186536052	3	2	98	1	0	0	0	0	1	0	0	0	14931	1783	62	4	506	4	SORBS2	4	186536052	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09	16059070	186536052	4618224	18	5241											
MTMR12	54545	genome.wustl.edu	37	5	32242202	32242202	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr5:32242202C>G	ENST00000382142.3	-	12	1302	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	MTMR12_ENST00000280285.5_Missense_Mutation_p.E378Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.E378Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	378	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.E378Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCATACATTCTGTAATCTCT	0.348																																																1	Substitution - Missense(1)	ovary(1)	5											162	151	155					5																	32242202		2200	4299	6499	32277959	SO:0001583	missense	54545			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1132G>C	5.37:g.32242202C>G	ENSP00000371577:p.Glu378Gln		32277959	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346492	0.61073	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.90444	-2.67;-2.67;-2.67	5.8	5.8	0.92144	Myotubularin phosphatase domain (1);	0.057747	0.64402	D	0.000003	D	0.93455	0.7912	L	0.42744	1.35	0.47698	D	0.999497	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.78314	0.97;0.991;0.98	D	0.93126	0.6529	10	0.51188	T	0.08	.	18.235	0.89947	0.0:1.0:0.0:0.0	.	378;378;378	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	Q	378	ENSP00000280285:E378Q;ENSP00000371577:E378Q;ENSP00000264934:E378Q	ENSP00000264934:E378Q	E	-	1	0	MTMR12	32277959	0.988000	0.35896	0.576000	0.28549	0.993000	0.82548	2.916000	0.48813	2.748000	0.94277	0.655000	0.94253	GAA		0.348	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		G	32242202	C	G	32242202	3	3	98	1	0	0	0	0	1	0	0	0	9941	922	32	3	1131	3	MTMR12	5	32242202	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09		32242202	148673058	19	5242											
ODZ2	57451	genome.wustl.edu	37	5	167617460	167617460	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr5:167617460G>T	ENST00000518659.1	+	14	2727	c.2688G>T	c.(2686-2688)tgG>tgT	p.W896C	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.W664C|TENM2_ENST00000545108.1_Missense_Mutation_p.W896C|TENM2_ENST00000519204.1_Missense_Mutation_p.W775C|TENM2_ENST00000403607.2_Missense_Mutation_p.W720C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	896					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.W729C(1)									AGACGGATTGGCCCGCAGTGA	0.587																																																1	Substitution - Missense(1)	ovary(1)	5											53	52	52					5																	167617460		1966	4150	6116	167550038	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2688G>T	5.37:g.167617460G>T	ENSP00000429430:p.Trp896Cys		167550038	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	10.25	1.299067	0.23650	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88818	-1.96;-1.94;-2.05;-2.42;-2.43	5.94	2.13	0.27403	.	0.873177	0.10539	N	0.662943	T	0.77003	0.4067	N	0.08118	0	0.48571	D	0.999677	B;B;B	0.25486	0.127;0.078;0.084	B;B;B	0.30401	0.03;0.013;0.115	T	0.65302	-0.6201	10	0.37606	T	0.19	.	5.8738	0.18819	0.3403:0.0:0.5389:0.1208	.	896;896;664	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	896;896;775;664;720	ENSP00000429430:W896C;ENSP00000438635:W896C;ENSP00000428964:W775C;ENSP00000427874:W664C;ENSP00000384905:W720C	ENSP00000384905:W720C	W	+	3	0	ODZ2	167550038	0.102000	0.21896	0.946000	0.38457	0.533000	0.34776	-0.139000	0.10358	0.385000	0.24970	0.561000	0.74099	TGG		0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167617460	G	T	167617460	3	4	98	1	0	0	0	0	1	0	0	0	10835	1212	42	3	2715	3	ODZ2	5	167617460	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09	135375258	167617460	13297800	20	5243											
RIMS1	22999	genome.wustl.edu	37	6	72984124	72984124	+	Silent	SNP	G	G	A	rs374938269	byFrequency	TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr6:72984124G>A	ENST00000521978.1	+	23	3471	c.3471G>A	c.(3469-3471)ccG>ccA	p.P1157P	RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000518273.1_Silent_p.P1093P|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517960.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1157					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.P1157P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGCGTCTCCGGAGAATGACA	0.488													G|||	2	0.000399361	0.0015	0	5008	,	,		16957	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	6						G	,,,,	10,3808		0,10,1899	62	60	60		,,,,3471	3.6	1	6		60	0,8248		0,0,4124	no	intron,intron,intron,intron,coding-synonymous	RIMS1	NM_001168407.1,NM_001168408.1,NM_001168409.1,NM_001168410.1,NM_014989.4	,,,,	0,10,6023	AA,AG,GG		0.0,0.2619,0.0829	,,,,	,,,,1157/1693	72984124	10,12056	1909	4124	6033	73040845	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3471G>A	6.37:g.72984124G>A			73040845	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1																																																																																				0.488	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			A	72984124	G	A	72984124	2	1	98	1	0	0	0	0	0	0	0	1	13370	1103	39	1		1	RIMS1	6	72984124	Silent	SNP	G	TCGA-13-0890-01A-01W-0421-09		72984124	98130943	21	5244											
SENP6	26054	genome.wustl.edu	37	6	76373130	76373130	+	Missense_Mutation	SNP	C	C	G	rs368687851		TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr6:76373130C>G	ENST00000447266.2	+	9	1368	c.890C>G	c.(889-891)aCt>aGt	p.T297S	SENP6_ENST00000327284.8_Missense_Mutation_p.T290S|SENP6_ENST00000370014.3_Missense_Mutation_p.T297S|SENP6_ENST00000370010.2_Missense_Mutation_p.T290S	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	297					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.T297S(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGTAAACACACTTATTTACAG	0.328																																																1	Substitution - Missense(1)	ovary(1)	6											107	101	103					6																	76373130		1823	4090	5913	76429850	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.890C>G	6.37:g.76373130C>G	ENSP00000402527:p.Thr297Ser		76429850	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.131260	0.01756	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.39787	2.9;2.93;1.64;2.96;1.06;1.64	5.24	0.593	0.17478	.	0.494197	0.21704	N	0.070370	T	0.04137	0.0115	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.32613	-0.9900	10	0.09338	T	0.73	-8.6407	5.8998	0.18960	0.5942:0.2963:0.1095:0.0	.	290;297;290	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	S	290;297;290;297;187;187	ENSP00000359027:T290S;ENSP00000359031:T297S;ENSP00000321820:T290S;ENSP00000402527:T297S;ENSP00000426480:T187S;ENSP00000391426:T187S	ENSP00000321820:T290S	T	+	2	0	SENP6	76429850	1.000000	0.71417	0.982000	0.44146	0.212000	0.24457	0.862000	0.27899	-0.043000	0.13513	-1.289000	0.01358	ACT		0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		G	76373130	C	G	76373130	3	3	98	1	0	0	0	0	1	0	0	0	14053	565	20	3	924	3	SENP6	6	76373130	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09	3389006	76373130	94741937	22	5245											
MTHFD1L	25902	genome.wustl.edu	37	6	151331076	151331076	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr6:151331076G>C	ENST00000367321.3	+	21	2521	c.2247G>C	c.(2245-2247)atG>atC	p.M749I	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	749	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.M749I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CTCTGAAGATGCATGGAGGCG	0.478																																																1	Substitution - Missense(1)	ovary(1)	6											87	84	85					6																	151331076		2203	4300	6503	151372769	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2247G>C	6.37:g.151331076G>C	ENSP00000356290:p.Met749Ile		151372769	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694477	0.88830	.	.	ENSG00000120254	ENST00000367321	T	0.21932	1.98	4.43	4.43	0.53597	Formate-tetrahydrofolate ligase, FTHFS, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	H	0.96518	3.835	0.80722	D	1	D;D;D	0.69078	0.97;0.997;0.997	P;D;D	0.81914	0.718;0.981;0.995	T	0.72640	-0.4232	10	0.72032	D	0.01	.	17.0632	0.86553	0.0:0.0:1.0:0.0	.	750;504;749	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	I	749	ENSP00000356290:M749I	ENSP00000356290:M749I	M	+	3	0	MTHFD1L	151372769	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.813000	0.99286	2.010000	0.58986	0.650000	0.86243	ATG		0.478	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		C	151331076	G	C	151331076	3	2	98	1	0	0	0	0	1	0	0	0	9928	1319	46	3	2329	3	MTHFD1L	6	151331076	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09	74957946	151331076	19783991	23	5246											
IGF2R	3482	genome.wustl.edu	37	6	160504993	160504993	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr6:160504993C>G	ENST00000356956.1	+	40	5993	c.5845C>G	c.(5845-5847)Cgg>Ggg	p.R1949G		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1949					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.R1949G(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AAACAGCTACCGGACATCCAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	6											82	75	78					6																	160504993		2203	4300	6503	160424983	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5845C>G	6.37:g.160504993C>G	ENSP00000349437:p.Arg1949Gly		160424983	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960668	0.34565	.	.	ENSG00000197081	ENST00000356956	T	0.14144	2.53	5.55	4.68	0.58851	Mannose-6-phosphate receptor, binding (1);	0.056264	0.64402	D	0.000001	T	0.13543	0.0328	M	0.81614	2.55	0.49051	D	0.99974	B	0.34349	0.45	B	0.42030	0.373	T	0.01305	-1.1390	10	0.45353	T	0.12	-40.0177	10.376	0.44081	0.2785:0.5997:0.1218:0.0	.	1949	P11717	MPRI_HUMAN	G	1949	ENSP00000349437:R1949G	ENSP00000349437:R1949G	R	+	1	2	IGF2R	160424983	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	2.389000	0.44407	1.577000	0.49804	0.655000	0.94253	CGG		0.453	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		G	160504993	C	G	160504993	3	3	98	1	0	0	0	0	1	0	0	0	7576	643	23	3	6003	3	IGF2R	6	160504993	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09	9173917	160504993	10610074	24	5247											
STAG3	10734	genome.wustl.edu	37	7	99796176	99796176	+	Silent	SNP	C	C	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr7:99796176C>A	ENST00000426455.1	+	13	1730	c.1323C>A	c.(1321-1323)gcC>gcA	p.A441A	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.A441A|STAG3_ENST00000394018.2_Silent_p.A383A|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	441					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.A441A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGGCCTGGCCTCTGCCGCAG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	7											101	92	95					7																	99796176		2203	4300	6503	99634112	SO:0001819	synonymous_variant	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1323C>A	7.37:g.99796176C>A			99634112	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	CCDS34703.1																																																																																				0.547	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		A	99796176	C	A	99796176	2	1	98	1	0	0	0	0	0	0	0	1	15246	668	24	3		3	STAG3	7	99796176	Silent	SNP	C	TCGA-13-0890-01A-01W-0421-09		99796176	59342487	25	5248											
ARHGEF10	9639	genome.wustl.edu	37	8	1812549	1812549	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr8:1812549A>C	ENST00000398564.1	+	5	567	c.567A>C	c.(565-567)gaA>gaC	p.E189D	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E165D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E189D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.E189D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E189D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E164D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	189					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E189D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAACACCAGAAGTCACAGAAG	0.468																																																1	Substitution - Missense(1)	ovary(1)	8											145	125	132					8																	1812549		2203	4300	6503	1799956	SO:0001583	missense	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.567A>C	8.37:g.1812549A>C	ENSP00000381571:p.Glu189Asp		1799956	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	A	9.340	1.062746	0.19987	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.66815	0.26;0.18;0.25;-0.23;0.25;0.24	4.2	0.612	0.17591	.	.	.	.	.	T	0.53658	0.1810	L	0.54323	1.7	0.09310	N	1	P;B;B;B;B	0.38504	0.634;0.241;0.255;0.241;0.241	B;B;B;B;B	0.30495	0.116;0.116;0.078;0.116;0.116	T	0.40979	-0.9534	9	0.45353	T	0.12	-26.3221	7.3008	0.26420	0.6159:0.0:0.3841:0.0	.	189;189;189;165;164	O15013-4;O15013-6;E9PB39;O15013-7;O15013-5	.;.;.;.;.	D	164;165;189;189;189;189	ENSP00000340297:E164D;ENSP00000427909:E165D;ENSP00000431012:E189D;ENSP00000381568:E189D;ENSP00000381571:E189D;ENSP00000262112:E189D	ENSP00000262112:E189D	E	+	3	2	ARHGEF10	1799956	0.074000	0.21230	0.044000	0.18714	0.012000	0.07955	0.085000	0.14912	0.271000	0.22005	0.533000	0.62120	GAA		0.468	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				C	1812549	A	C	1812549	3	2	98	1	0	0	0	0	1	0	0	0	894	69	3	5	506	5	ARHGEF10	8	1812549	Missense_Mutation	SNP	A	TCGA-13-0890-01A-01W-0421-09		1812549	144551473	26	5249											
LYN	4067	genome.wustl.edu	37	8	56879390	56879390	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr8:56879390G>C	ENST00000519728.1	+	9	1203	c.907G>C	c.(907-909)Gtg>Ctg	p.V303L	LYN_ENST00000520220.2_Missense_Mutation_p.V282L|LYN_ENST00000420292.1_3'UTR	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.V303L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TGACAAGCTCGTGAGGCTCTA	0.552																																																1	Substitution - Missense(1)	ovary(1)	8											97	83	88					8																	56879390		2203	4300	6503	57041944	SO:0001583	missense	4067			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.907G>C	8.37:g.56879390G>C	ENSP00000428924:p.Val303Leu		57041944	A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385350	0.61956	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.17054	2.3;2.3	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.057706	0.64402	D	0.000001	T	0.23727	0.0574	L	0.32530	0.975	0.80722	D	1	P;B	0.34780	0.468;0.095	B;B	0.43103	0.408;0.255	T	0.01238	-1.1409	10	0.52906	T	0.07	.	20.205	0.98274	0.0:0.0:1.0:0.0	.	373;303	Q6NUK7;P07948	.;LYN_HUMAN	L	303;282	ENSP00000428924:V303L;ENSP00000428424:V282L	ENSP00000428924:V303L	V	+	1	0	LYN	57041944	1.000000	0.71417	0.968000	0.41197	0.252000	0.25951	9.864000	0.99589	2.777000	0.95525	0.591000	0.81541	GTG		0.552	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		C	56879390	G	C	56879390	3	2	98	1	0	0	0	0	1	0	0	0	9107	1145	40	3	937	3	LYN	8	56879390	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09	55066841	56879390	89484632	27	5250											
FBXO18	84893	genome.wustl.edu	37	10	5958363	5958363	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr10:5958363A>T	ENST00000362091.4	+	10	1847	c.1732A>T	c.(1732-1734)Att>Ttt	p.I578F	FBXO18_ENST00000397269.3_Missense_Mutation_p.I65F|FBXO18_ENST00000379999.5_Missense_Mutation_p.I629F	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	578					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.I629F(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TCACGTGCCTATTTGGTGTAA	0.473																																																1	Substitution - Missense(1)	ovary(1)	10											172	154	160					10																	5958363		2203	4300	6503	5998369	SO:0001583	missense	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1732A>T	10.37:g.5958363A>T	ENSP00000355415:p.Ile578Phe		5998369	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.528485	0.27299	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.19	4.0	0.46444	.	0.431929	0.25686	N	0.028971	T	0.22781	0.0550	N	0.24115	0.695	0.28713	N	0.903414	B;B;B	0.24483	0.104;0.067;0.017	B;B;B	0.18871	0.023;0.016;0.004	T	0.12167	-1.0558	9	0.12430	T	0.62	-17.8451	6.7315	0.23385	0.7861:0.0:0.0769:0.137	.	629;578;504	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	F	65;578;315;629;315	.	ENSP00000355415:I578F	I	+	1	0	FBXO18	5998369	0.620000	0.27068	0.992000	0.48379	0.898000	0.52572	2.138000	0.42140	1.947000	0.56498	0.454000	0.30748	ATT		0.473	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		T	5958363	A	T	5958363	3	4	98	1	0	0	0	0	1	0	0	0	5731	449	16	5	1932	5	FBXO18	10	5958363	Missense_Mutation	SNP	A	TCGA-13-0890-01A-01W-0421-09		5958363	129576384	28	5251											
WAC	51322	genome.wustl.edu	37	10	28900852	28900852	+	Splice_Site	SNP	G	G	T			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr10:28900852G>T	ENST00000354911.4	+	10	1598		c.e10+1		WAC_ENST00000347934.4_Splice_Site|WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000375664.4_Splice_Site	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.?(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACAGCCAAAGGTATGTCACCT	0.388																																																2	Unknown(2)	ovary(1)|endometrium(1)	10											125	105	112					10																	28900852		2203	4300	6503	28940858	SO:0001630	splice_region_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1437+1G>T	10.37:g.28900852G>T			28940858	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Splice_Site	SNP	ENST00000354911.4	37	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621544	0.87460	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000338396	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7641	0.96334	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WAC	28940858	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.759000	0.98931	2.733000	0.93635	0.650000	0.86243	.		0.388	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	Intron	T	28900852	G	T	28900852	5	4	98	1	0	0	0	0	0	0	1	0	17247	1275	44	3	1476	3	WAC	10	28900852	Splice_Site	SNP	G	TCGA-13-0890-01A-01W-0421-09	22942489	28900852	106633895	29	5252											
GDF2	2658	genome.wustl.edu	37	10	48413906	48413906	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr10:48413906G>C	ENST00000249598.1	-	2	1121	c.962C>G	c.(961-963)gCc>gGc	p.A321G		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	321					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A321G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GCCAGCCCCGGCGCTCCTTTT	0.612																																																1	Substitution - Missense(1)	ovary(1)	10											49	52	51					10																	48413906		2203	4300	6503	48033912	SO:0001583	missense	2658			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.962C>G	10.37:g.48413906G>C	ENSP00000249598:p.Ala321Gly		48033912	Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	4.372	0.068629	0.08436	.	.	ENSG00000128802	ENST00000249598	D	0.88509	-2.39	5.46	1.52	0.23074	Transforming growth factor-beta, C-terminal (1);	0.624518	0.17938	N	0.156935	T	0.81574	0.4851	L	0.50333	1.59	0.09310	N	1	B	0.32245	0.361	B	0.27608	0.081	T	0.69503	-0.5128	10	0.42905	T	0.14	.	5.0086	0.14300	0.3589:0.0:0.5064:0.1347	.	321	Q9UK05	GDF2_HUMAN	G	321	ENSP00000249598:A321G	ENSP00000249598:A321G	A	-	2	0	GDF2	48033912	0.265000	0.24102	0.000000	0.03702	0.007000	0.05969	3.206000	0.51098	0.025000	0.15241	-0.373000	0.07131	GCC		0.612	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		C	48413906	G	C	48413906	3	2	98	1	0	0	0	0	1	0	0	0	6314	1203	42	3	331	3	GDF2	10	48413906	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09	19513054	48413906	87120841	30	5253											
INPP5F	79892	genome.wustl.edu	37	10	121587056	121587056	+	IGR	SNP	G	G	T			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr10:121587056G>T	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.V445L|INPP5F_ENST00000361976.2_Missense_Mutation_p.V1055L	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.V1055L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGGGCTTCATGTAACTCCTTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											108	106	107					10																	121587056		2203	4300	6503	121577046	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587056G>T			121577046	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749539	0.30955	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.43294	1.18;0.95	5.92	2.93	0.34026	.	0.633658	0.16026	N	0.233094	T	0.25754	0.0627	N	0.25647	0.755	0.09310	N	0.999999	B;B	0.18013	0.025;0.0	B;B	0.15870	0.014;0.0	T	0.13764	-1.0497	10	0.31617	T	0.26	-10.0177	5.3593	0.16079	0.2181:0.4217:0.3602:0.0	.	445;1055	Q5W135;Q9Y2H2	.;SAC2_HUMAN	L	1055;445	ENSP00000354519:V1055L;ENSP00000358076:V445L	ENSP00000354519:V1055L	V	+	1	0	INPP5F	121577046	0.001000	0.12720	0.661000	0.29709	0.972000	0.66771	0.875000	0.28079	0.810000	0.34279	0.655000	0.94253	GTA		0.507	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		T	121587056	G	T	121587056	1	4	98	0	1	0	0	0	0	0	0	0	7758	1377	48	3		3	INPP5F	10	121587056	IGR	SNP	G	TCGA-13-0890-01A-01W-0421-09	73173150	121587056	13947691	31	5254											
PTH	5741	genome.wustl.edu	37	11	13513970	13513970	+	Silent	SNP	A	A	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr11:13513970A>G	ENST00000282091.1	-	3	444	c.330T>C	c.(328-330)acT>acC	p.T110T	PTH_ENST00000529816.1_Silent_p.T110T	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	110					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.T110T(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		ATTTAGCTTTAGTTAATACAT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	11											90	82	85					11																	13513970		2200	4294	6494	13470546	SO:0001819	synonymous_variant	5741			J00301	CCDS7812.1	11p15.3-p15.1	2013-02-28				ENSG00000152266		"Endogenous ligands"	9606	protein-coding gene	gene with protein product	"parathyrin", "parathormone", "parathyroid hormone 1", "preproparathyroid hormone", "prepro-PTH"	168450				1672845	Standard	NM_000315		Approved	PTH1	uc001mlb.3	P01270		ENST00000282091.1:c.330T>C	11.37:g.13513970A>G			13470546	Q4VB48|Q9UD38	Silent	SNP	ENST00000282091.1	37	CCDS7812.1																																																																																				0.408	PTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386198.1	NM_000315		G	13513970	A	G	13513970	2	3	98	1	0	0	0	0	0	0	0	1	12760	407	15	4		4	PTH	11	13513970	Silent	SNP	A	TCGA-13-0890-01A-01W-0421-09		13513970	121492546	32	5255											
GIF	2694	genome.wustl.edu	37	11	59609970	59609970	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr11:59609970T>A	ENST00000257248.2	-	4	504	c.457A>T	c.(457-459)Ata>Tta	p.I153L	GIF_ENST00000541311.1_Missense_Mutation_p.I128L	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	153					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.I153L(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CGGACGGCTATCGGCAAGGTC	0.582																																					NSCLC(53;1139 1245 16872 38474 42853)											1	Substitution - Missense(1)	ovary(1)	11											114	98	103					11																	59609970		2201	4295	6496	59366546	SO:0001583	missense	2694			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.457A>T	11.37:g.59609970T>A	ENSP00000257248:p.Ile153Leu		59366546	B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	T	6.014	0.370984	0.11409	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.35048	1.33;1.33	5.87	-0.871	0.10642	.	0.534733	0.19727	N	0.107441	T	0.09024	0.0223	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.21245	-1.0251	10	0.12766	T	0.61	-5.9434	1.0103	0.01495	0.145:0.1785:0.2995:0.377	.	153	P27352	IF_HUMAN	L	153;128	ENSP00000257248:I153L;ENSP00000440427:I128L	ENSP00000257248:I153L	I	-	1	0	GIF	59366546	0.001000	0.12720	0.045000	0.18777	0.075000	0.17131	-0.332000	0.07904	0.173000	0.19788	0.533000	0.62120	ATA		0.582	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		A	59609970	T	A	59609970	3	1	98	1	0	0	0	0	1	0	0	0	6376	1435	50	5	820	5	GIF	11	59609970	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09	46096000	59609970	75396546	33	5256											
C11orf30	56946	genome.wustl.edu	37	11	76175080	76175080	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr11:76175080T>C	ENST00000529032.1	+	6	787	c.787T>C	c.(787-789)Ttc>Ctc	p.F263L	C11orf30_ENST00000524490.1_Missense_Mutation_p.F264L|C11orf30_ENST00000525919.1_Missense_Mutation_p.F264L|C11orf30_ENST00000525038.1_Missense_Mutation_p.F278L|C11orf30_ENST00000343878.3_Missense_Mutation_p.F263L|C11orf30_ENST00000533248.1_Missense_Mutation_p.F277L|C11orf30_ENST00000334736.3_Missense_Mutation_p.F263L|C11orf30_ENST00000524767.1_Missense_Mutation_p.F278L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	263	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.F263L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAAAATAACCTTCACTAAACC	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											139	115	123					11																	76175080		2200	4292	6492	75852728	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.787T>C	11.37:g.76175080T>C	ENSP00000432327:p.Phe263Leu		75852728	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297534	0.81025	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.75	5.75	0.90469	.	0.045913	0.85682	D	0.000000	T	0.45094	0.1325	L	0.29908	0.895	0.80722	D	1	P;P;P;D;D;D;P;D	0.61697	0.956;0.956;0.956;0.99;0.99;0.982;0.956;0.982	D;D;D;D;D;D;D;D	0.72982	0.931;0.931;0.931;0.979;0.979;0.952;0.931;0.952	T	0.21449	-1.0245	10	0.09590	T	0.72	-7.3134	16.0707	0.80928	0.0:0.0:0.0:1.0	.	277;278;278;263;213;264;264;263	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;.;EMSY_HUMAN	L	264;263;263;213;278;277;264;278;263	ENSP00000431166:F264L;ENSP00000334130:F263L;ENSP00000344688:F263L;ENSP00000433205:F278L;ENSP00000433634:F277L;ENSP00000432010:F264L;ENSP00000436968:F278L;ENSP00000432327:F263L	ENSP00000334130:F263L	F	+	1	0	C11orf30	75852728	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.040000	0.89188	2.194000	0.70268	0.533000	0.62120	TTC		0.458	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		C	76175080	T	C	76175080	3	2	98	1	0	0	0	0	1	0	0	0	1636	1609	56	4	809	4	C11orf30	11	76175080	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09	16565110	76175080	58831436	34	5257											
SIK3	23387	genome.wustl.edu	37	11	116732096	116732096	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr11:116732096T>G	ENST00000292055.4	-	18	2036	c.2001A>C	c.(1999-2001)ttA>ttC	p.L667F	SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.L725F|SIK3_ENST00000542607.1_Missense_Mutation_p.L667F|SIK3_ENST00000446921.2_Missense_Mutation_p.L725F|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000434315.2_Missense_Mutation_p.L566F	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	667	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L773F(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCTGAATCCTTAACCTTAAAA	0.443											OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	ovary(1)	11											56	63	61					11																	116732096		2201	4296	6497	116237306	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2001A>C	11.37:g.116732096T>G	ENSP00000292055:p.Leu667Phe	1475	116237306	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	19.23|19.23	3.787068|3.787068	0.70337|0.70337	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.25912	.|1.77;1.77;1.77;1.77	5.83|5.83	3.43|3.43	0.39272|0.39272	.|Protein kinase-like domain (1);	.|0.000000	.|0.33040	.|U	.|0.005345	T|T	0.35856|0.35856	0.0946|0.0946	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.91635	.|0.999;0.998;0.998	T|T	0.10042|0.10042	-1.0647|-1.0647	5|10	.|0.72032	.|D	.|0.01	.|.	8.8508|8.8508	0.35199|0.35199	0.0:0.2777:0.0:0.7223|0.0:0.2777:0.0:0.7223	.|.	.|667;566;667	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	Q|F	767;690|725;667;667;566	.|ENSP00000364449:L725F;ENSP00000292055:L667F;ENSP00000438108:L667F;ENSP00000415873:L566F	.|ENSP00000292055:L667F	K|L	-|-	1|3	0|2	SIK3|SIK3	116237306|116237306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.236000|1.236000	0.32683|0.32683	0.994000|0.994000	0.38892|0.38892	0.533000|0.533000	0.62120|0.62120	AAG|TTA		0.443	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		G	116732096	T	G	116732096	3	3	98	1	0	0	0	0	1	0	0	0	14322	1751	61	5	1814	5	SIK3	11	116732096	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09	40557016	116732096	18274420	35	5258											
ADAMTS20	80070	genome.wustl.edu	37	12	43847845	43847845	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr12:43847845T>G	ENST00000389420.3	-	12	1624	c.1625A>C	c.(1624-1626)cAt>cCt	p.H542P	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H542P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	542	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H542P(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATAGCCCATGACGGCAATG	0.373																																																1	Substitution - Missense(1)	ovary(1)	12											86	74	78					12																	43847845		2203	4300	6503	42134112	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1625A>C	12.37:g.43847845T>G	ENSP00000374071:p.His542Pro		42134112	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595812	0.28445	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61040	0.31;0.14	4.75	-1.93	0.07594	.	0.687962	0.12996	N	0.422064	T	0.51109	0.1655	M	0.66939	2.045	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40646	-0.9552	10	0.39692	T	0.17	.	10.6886	0.45858	0.0:0.357:0.0:0.643	.	542	P59510	ATS20_HUMAN	P	542	ENSP00000374071:H542P;ENSP00000448341:H542P	ENSP00000374068:H542P	H	-	2	0	ADAMTS20	42134112	1.000000	0.71417	0.538000	0.28064	0.707000	0.40811	1.509000	0.35780	-0.431000	0.07307	-1.140000	0.01884	CAT		0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		G	43847845	T	G	43847845	3	3	98	1	0	0	0	0	1	0	0	0	266	1464	51	5	4218	5	ADAMTS20	12	43847845	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09		43847845	90004050	36	5259											
STAB2	55576	genome.wustl.edu	37	12	103984748	103984748	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr12:103984748T>A	ENST00000388887.2	+	2	359	c.155T>A	c.(154-156)gTc>gAc	p.V52D	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.V52D(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACCTTGGAGTCAAGTGCCCG	0.433																																																1	Substitution - Missense(1)	ovary(1)	12											133	129	130					12																	103984748		2203	4300	6503	102508878	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.155T>A	12.37:g.103984748T>A	ENSP00000373539:p.Val52Asp		102508878		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970357	0.34754	.	.	ENSG00000136011	ENST00000388887	T	0.29142	1.58	6.02	2.38	0.29361	.	0.456644	0.21120	N	0.079835	T	0.18087	0.0434	L	0.29908	0.895	0.09310	N	0.999996	B	0.33000	0.393	B	0.31614	0.133	T	0.13176	-1.0519	10	0.36615	T	0.2	.	4.825	0.13412	0.1376:0.1493:0.0:0.7131	.	52	Q8WWQ8	STAB2_HUMAN	D	52	ENSP00000373539:V52D	ENSP00000373539:V52D	V	+	2	0	STAB2	102508878	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.227000	0.17795	0.168000	0.19655	-0.256000	0.11100	GTC		0.433	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	103984748	T	A	103984748	3	1	98	1	0	0	0	0	1	0	0	0	15240	1667	58	5	161	5	STAB2	12	103984748	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09	60136903	103984748	29867147	37	5260											
ACACB	32	genome.wustl.edu	37	12	109660344	109660344	+	Silent	SNP	G	G	A	rs148241794	byFrequency	TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr12:109660344G>A	ENST00000338432.7	+	25	3716	c.3597G>A	c.(3595-3597)tcG>tcA	p.S1199S	ACACB_ENST00000377854.5_Silent_p.S1129S|ACACB_ENST00000377848.3_Silent_p.S1199S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1199					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.S1199S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTTCCCTGTCGGACGAGCTGA	0.577													g|||	6	0.00119808	0.0045	0	5008	,	,		18267	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	12						A		5,4401	8.1+/-20.4	0,5,2198	98	93	95		3597	-10.3	0	12	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACACB	NM_001093.3		0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461		1199/2459	109660344	6,13000	2203	4300	6503	108144727	SO:0001819	synonymous_variant	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3597G>A	12.37:g.109660344G>A			108144727	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																				0.577	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109660344	G	A	109660344	2	1	98	1	0	0	0	0	0	0	0	1	107	1103	39	1		1	ACACB	12	109660344	Silent	SNP	G	TCGA-13-0890-01A-01W-0421-09	5675596	109660344	24191551	38	5261											
BRCA2	675	genome.wustl.edu	37	13	32912178	32912178	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	-	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr13:32912178delT	ENST00000380152.3	+	11	3919	c.3686delT	c.(3685-3687)gttfs	p.V1229fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.V1229fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1229					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S1230fs*9(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAACTGAATGTTTCTACTGAA	0.353			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	1	Deletion - Frameshift(1)	ovary(1)	13											55	57	57					13																	32912178		2203	4299	6502	31810178	SO:0001589	frameshift_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3686delT	13.37:g.32912178delT	ENSP00000369497:p.Val1229fs		31810178	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	CCDS9344.1																																																																																				0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		-	32912178	T	-	32912178	7	5	98	1	0	1	0	1	0	0	0	0	1499	1725	60	0	3724	0	BRCA2	13	32912178	Frame_Shift_Del	DEL	T	TCGA-13-0890-01A-01W-0421-09		32912178	82257700	39	5262											
ZBTB1	22890	genome.wustl.edu	37	14	64990179	64990179	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr14:64990179A>T	ENST00000554015.1	+	4	2388	c.1957A>T	c.(1957-1959)Atg>Ttg	p.M653L	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.M653L|ZBTB1_ENST00000358738.3_Intron			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	653					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TGTACGGCATATGATTTCTCA	0.418																																																0			14											194	148	162					14																	64990179		692	1591	2283	64059932	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1957A>T	14.37:g.64990179A>T	ENSP00000451000:p.Met653Leu		64059932	A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.243060	0.58995	.	.	ENSG00000126804	ENST00000554015;ENST00000394712	T;T	0.27256	1.68;1.68	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);	228.480000	0.01240	U	0.008588	T	0.38558	0.1045	N	0.25647	0.755	0.53688	D	0.999974	P	0.39940	0.696	P	0.51170	0.661	T	0.01283	-1.1396	9	.	.	.	-11.9639	15.6149	0.76756	1.0:0.0:0.0:0.0	.	653	Q9Y2K1	ZBTB1_HUMAN	L	653	ENSP00000451000:M653L;ENSP00000378201:M653L	.	M	+	1	0	ZBTB1	64059932	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.919000	0.92770	2.091000	0.63221	0.529000	0.55759	ATG		0.418	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			T	64990179	A	T	64990179	3	4	98	1	0	0	0	0	1	0	0	0	17522	449	16	5	1959	5	ZBTB1	14	64990179	Missense_Mutation	SNP	A	TCGA-13-0890-01A-01W-0421-09		64990179	42359361	40	5263											
PRC1	9055	genome.wustl.edu	37	15	91517424	91517424	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr15:91517424G>C	ENST00000361188.5	-	11	2614	c.1403C>G	c.(1402-1404)cCt>cGt	p.P468R	PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.P468R|PRC1_ENST00000361919.3_Missense_Mutation_p.P468R|PRC1_ENST00000442656.2_Missense_Mutation_p.P427R					protein regulator of cytokinesis 1									p.P468R(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGGTGTTCGAGGAGCGCTGCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	15											201	170	180					15																	91517424		2198	4298	6496	89318428	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1403C>G	15.37:g.91517424G>C	ENSP00000354679:p.Pro468Arg		89318428		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820835	0.71028	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.37	5.37	0.77165	.	0.293466	0.39146	N	0.001451	T	0.54967	0.1891	M	0.71581	2.175	0.40269	D	0.978263	D;D;D;D	0.56035	0.967;0.967;0.967;0.974	P;P;P;D	0.64877	0.884;0.884;0.884;0.93	T	0.52223	-0.8604	10	0.44086	T	0.13	-9.2179	18.9064	0.92464	0.0:0.0:1.0:0.0	.	427;468;438;468	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	R	468;468;468;71;427	ENSP00000377793:P468R;ENSP00000354618:P468R;ENSP00000354679:P468R;ENSP00000409549:P427R	ENSP00000354679:P468R	P	-	2	0	PRC1	89318428	1.000000	0.71417	0.781000	0.31783	0.590000	0.36582	6.445000	0.73456	2.788000	0.95919	0.650000	0.86243	CCT		0.498	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		C	91517424	G	C	91517424	3	2	98	1	0	0	0	0	1	0	0	0	12449	1000	35	3	479	3	PRC1	15	91517424	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09		91517424	11013968	41	5264											
SYT17	51760	genome.wustl.edu	37	16	19195086	19195086	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr16:19195086T>G	ENST00000355377.2	+	5	966	c.568T>G	c.(568-570)Ttc>Gtc	p.F190V	SYT17_ENST00000562711.2_Missense_Mutation_p.F186V|SYT17_ENST00000568115.1_Missense_Mutation_p.F129V|SYT17_ENST00000562034.1_Missense_Mutation_p.F129V	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	190	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.F190V(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CATGCTGCACTTCAGCACTCA	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											118	96	104					16																	19195086		2197	4300	6497	19102587	SO:0001583	missense	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.568T>G	16.37:g.19195086T>G	ENSP00000347538:p.Phe190Val		19102587	O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	t	23.9	4.470135	0.84533	.	.	ENSG00000103528	ENST00000355377	T	0.08008	3.14	5.38	5.38	0.77491	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.18635	0.0447	L	0.35249	1.045	0.80722	D	1	P;D	0.54207	0.913;0.965	P;D	0.63597	0.864;0.916	T	0.00738	-1.1587	10	0.87932	D	0	.	15.3867	0.74706	0.0:0.0:0.0:1.0	.	190;129	Q9BSW7;B4DJB2	SYT17_HUMAN;.	V	190	ENSP00000347538:F190V	ENSP00000347538:F190V	F	+	1	0	SYT17	19102587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.994000	0.88315	2.026000	0.59711	0.375000	0.23000	TTC		0.612	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		G	19195086	T	G	19195086	3	3	98	1	0	0	0	0	1	0	0	0	15473	1609	56	5	586	5	SYT17	16	19195086	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09		19195086	71159667	42	5265											
ATP2A1	487	genome.wustl.edu	37	16	28905521	28905521	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr16:28905521G>A	ENST00000357084.3	+	10	1408	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	ATP2A1_ENST00000395503.4_Missense_Mutation_p.E381K|ATP2A1_ENST00000565042.1_3'UTR|ATP2A1_ENST00000536376.1_Missense_Mutation_p.E256K	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	381	Interacts with phospholamban 1. {ECO:0000250}.				apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.E381K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTCCTGAATGAGTTCTCCAT	0.572																																																1	Substitution - Missense(1)	ovary(1)	16											141	103	116					16																	28905521		2197	4300	6497	28813022	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1141G>A	16.37:g.28905521G>A	ENSP00000349595:p.Glu381Lys		28813022	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972872	0.53614	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82984	-1.67;-1.67;-1.67	4.87	3.92	0.45320	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	7.195860	0.00166	N	0.000013	D	0.82838	0.5124	L	0.51914	1.62	0.35032	D	0.758929	B;B;B	0.12630	0.002;0.006;0.001	B;B;B	0.18263	0.004;0.021;0.007	T	0.64462	-0.6402	10	0.62326	D	0.03	.	12.1791	0.54202	0.0858:0.0:0.9142:0.0	.	256;381;381	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	K	381;381;418;256	ENSP00000349595:E381K;ENSP00000378879:E381K;ENSP00000443101:E256K	ENSP00000349595:E381K	E	+	1	0	ATP2A1	28813022	1.000000	0.71417	0.931000	0.37212	0.669000	0.39330	4.502000	0.60400	1.067000	0.40740	0.501000	0.49751	GAG		0.572	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		A	28905521	G	A	28905521	3	1	98	1	0	0	0	0	1	0	0	0	1136	1291	45	2	1179	2	ATP2A1	16	28905521	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09	9710435	28905521	61449232	43	5266											
TSR1	55720	genome.wustl.edu	37	17	2236408	2236408	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr17:2236408C>G	ENST00000301364.5	-	7	2231	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	384					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.K384N(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TAGAACTTTCCTTCAAGAAAT	0.438																																																1	Substitution - Missense(1)	ovary(1)	17											77	73	75					17																	2236408		2203	4300	6503	2183158	SO:0001583	missense	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1152G>C	17.37:g.2236408C>G	ENSP00000301364:p.Lys384Asn		2183158	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096971	0.56075	.	.	ENSG00000167721	ENST00000301364	T	0.12774	2.65	5.16	5.16	0.70880	.	0.128017	0.53938	D	0.000053	T	0.12475	0.0303	L	0.47016	1.485	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.06917	-1.0800	10	0.27785	T	0.31	-7.9415	9.5072	0.39053	0.0:0.8407:0.0:0.1593	.	384	Q2NL82	TSR1_HUMAN	N	384	ENSP00000301364:K384N	ENSP00000301364:K384N	K	-	3	2	TSR1	2183158	0.772000	0.28567	1.000000	0.80357	0.962000	0.63368	1.157000	0.31724	2.688000	0.91661	0.650000	0.86243	AAG		0.438	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		G	2236408	C	G	2236408	3	3	98	1	0	0	0	0	1	0	0	0	16664	680	24	3	1298	3	TSR1	17	2236408	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09		2236408	78958802	44	5267											
TP53	7157	genome.wustl.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr17:7578555C>A	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	CAGGGGAGTACTGTAGGAAGA	0.552		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"	51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	17											42	42	42					17																	7578555		2203	4300	6503	7519280	SO:0001630	splice_region_variant	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.376-1G>T	17.37:g.7578555C>A			7519280	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370877	0.61624	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578555	C	A	7578555	5	1	98	1	0	0	0	0	0	0	1	0	16381	579	20	3	923	3	TP53	17	7578555	Splice_Site	SNP	C	TCGA-13-0890-01A-01W-0421-09	5342147	7578555	73616655	45	5268											
ARHGEF15	22899	genome.wustl.edu	37	17	8222704	8222704	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr17:8222704A>G	ENST00000361926.3	+	14	2371	c.2261A>G	c.(2260-2262)gAg>gGg	p.E754G	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.E754G|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	754					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E754G(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ACCATCTATGAGGACTGTGGT	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											81	90	87					17																	8222704		2203	4300	6503	8163429	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2261A>G	17.37:g.8222704A>G	ENSP00000355026:p.Glu754Gly		8163429	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	a	21.3	4.128069	0.77549	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.73575	-0.76;-0.76	5.48	5.48	0.80851	.	0.150554	0.64402	D	0.000018	T	0.81327	0.4799	L	0.58428	1.81	0.50039	D	0.999844	D;D	0.67145	0.996;0.996	P;P	0.60415	0.874;0.874	T	0.82995	-0.0180	10	0.66056	D	0.02	-25.2177	13.5563	0.61761	1.0:0.0:0.0:0.0	.	754;754	D3DTR7;O94989	.;ARHGF_HUMAN	G	754;544;754	ENSP00000355026:E754G;ENSP00000412505:E754G	ENSP00000355026:E754G	E	+	2	0	ARHGEF15	8163429	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.382000	0.73167	2.297000	0.77311	0.533000	0.62120	GAG		0.542	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		G	8222704	A	G	8222704	3	3	98	1	0	0	0	0	1	0	0	0	898	304	11	4	2311	4	ARHGEF15	17	8222704	Missense_Mutation	SNP	A	TCGA-13-0890-01A-01W-0421-09	644149	8222704	72972506	46	5269											
AKAP1	8165	genome.wustl.edu	37	17	55194232	55194232	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr17:55194232T>A	ENST00000337714.3	+	8	2677	c.2444T>A	c.(2443-2445)gTc>gAc	p.V815D	AKAP1_ENST00000539273.1_Missense_Mutation_p.V815D|AKAP1_ENST00000571629.1_Missense_Mutation_p.V815D|AKAP1_ENST00000572557.1_Missense_Mutation_p.V815D	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	815	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V815D(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCTGACTTTGTCACCCTGCCG	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											204	184	191					17																	55194232		2203	4300	6503	52549231	SO:0001583	missense	8165			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2444T>A	17.37:g.55194232T>A	ENSP00000337736:p.Val815Asp		52549231	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687368	0.88639	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.08896	3.04;3.04	5.27	5.27	0.74061	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00512	-1.1696	10	0.87932	D	0	-21.4299	14.374	0.66860	0.0:0.0:0.0:1.0	.	815	Q92667	AKAP1_HUMAN	D	815;857;815	ENSP00000337736:V815D;ENSP00000443139:V815D	ENSP00000337736:V815D	V	+	2	0	AKAP1	52549231	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.361000	0.79497	1.982000	0.57802	0.459000	0.35465	GTC		0.517	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			A	55194232	T	A	55194232	3	1	98	1	0	0	0	0	1	0	0	0	445	1667	58	5	2470	5	AKAP1	17	55194232	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09	46971528	55194232	26000978	47	5270											
HRH4	59340	genome.wustl.edu	37	18	22057426	22057426	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr18:22057426A>T	ENST00000256906.4	+	3	1173	c.1073A>T	c.(1072-1074)tAt>tTt	p.Y358F	HRH4_ENST00000426880.2_Missense_Mutation_p.Y270F	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	358					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.Y358F(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CCTCTTTTGTATCCATTGTGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	18											155	159	157					18																	22057426		2203	4300	6503	20311424	SO:0001583	missense	59340			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.1073A>T	18.37:g.22057426A>T	ENSP00000256906:p.Tyr358Phe		20311424	B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816913	0.90790	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	D;D	0.92911	-3.13;-3.13	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.98;1.0	D	0.98025	1.0373	10	0.87932	D	0	-19.3937	15.3026	0.73966	1.0:0.0:0.0:0.0	.	270;358	B2KJ48;Q9H3N8	.;HRH4_HUMAN	F	358;270	ENSP00000256906:Y358F;ENSP00000402526:Y270F	ENSP00000256906:Y358F	Y	+	2	0	HRH4	20311424	1.000000	0.71417	0.904000	0.35570	0.751000	0.42716	9.181000	0.94874	2.208000	0.71279	0.528000	0.53228	TAT		0.363	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			T	22057426	A	T	22057426	3	4	98	1	0	0	0	0	1	0	0	0	7358	449	16	5	1083	5	HRH4	18	22057426	Missense_Mutation	SNP	A	TCGA-13-0890-01A-01W-0421-09		22057426	56019822	48	5271											
KIAA1468	57614	genome.wustl.edu	37	18	59894532	59894532	+	Nonsense_Mutation	SNP	T	T	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr18:59894532T>G	ENST00000398130.2	+	6	1101	c.869T>G	c.(868-870)tTa>tGa	p.L290*	KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.L290*	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	290								p.L290*(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GATTTTGAATTATGGGATGAT	0.269																																																1	Substitution - Nonsense(1)	ovary(1)	18											42	38	39					18																	59894532		1788	4057	5845	58045512	SO:0001587	stop_gained	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.869T>G	18.37:g.59894532T>G	ENSP00000381198:p.Leu290*		58045512		Nonsense_Mutation	SNP	ENST00000398130.2	37	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	T	39	7.695832	0.98438	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.6607	16.2444	0.82434	0.0:0.0:0.0:1.0	.	.	.	.	X	290	.	.	L	+	2	0	KIAA1468	58045512	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.839000	0.86812	2.233000	0.73108	0.455000	0.32223	TTA		0.269	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		G	59894532	T	G	59894532	4	3	98	1	0	0	0	0	0	1	0	0	8236	1764	61	5	891	5	KIAA1468	18	59894532	Nonsense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09	37837106	59894532	18182716	49	5272											
ZNF429	353088	genome.wustl.edu	37	19	21713460	21713460	+	Missense_Mutation	SNP	G	G	C	rs376763417		TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr19:21713460G>C	ENST00000358491.4	+	3	408	c.200G>C	c.(199-201)cGa>cCa	p.R67P	ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Missense_Mutation_p.R67P	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.R67P(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGATGAAGCGACATGAAATG	0.408																																																1	Substitution - Missense(1)	ovary(1)	19											67	75	73					19																	21713460		2184	4297	6481	21505300	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.200G>C	19.37:g.21713460G>C	ENSP00000351280:p.Arg67Pro		21505300	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	12.83	2.055846	0.36277	.	.	ENSG00000197013	ENST00000358491	T	0.07908	3.15	0.235	0.235	0.15431	Krueppel-associated box (1);	.	.	.	.	T	0.21145	0.0509	M	0.75884	2.315	0.24844	N	0.992442	D	0.76494	0.999	D	0.66084	0.941	T	0.06338	-1.0832	9	0.46703	T	0.11	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	67	Q86V71	ZN429_HUMAN	P	67	ENSP00000351280:R67P	ENSP00000351280:R67P	R	+	2	0	ZNF429	21505300	0.006000	0.16342	0.028000	0.17463	0.028000	0.11728	1.422000	0.34826	0.308000	0.22923	0.313000	0.20887	CGA		0.408	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		C	21713460	G	C	21713460	3	2	98	1	0	0	0	0	1	0	0	0	17902	1058	37	3	210	3	ZNF429	19	21713460	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09		21713460	37415523	50	5273											
SIX5	147912	genome.wustl.edu	37	19	46271385	46271385	+	Silent	SNP	G	G	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr19:46271385G>A	ENST00000317578.6	-	1	1099	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586498.1_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	240					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L240L(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GTGAGCGACAGGCCGGTGAGT	0.721																																																1	Substitution - coding silent(1)	ovary(1)	19											18	21	20					19																	46271385		2199	4295	6494	50963225	SO:0001819	synonymous_variant	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.718C>T	19.37:g.46271385G>A			50963225		Silent	SNP	ENST00000317578.6	37	CCDS12673.1																																																																																				0.721	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		A	46271385	G	A	46271385	2	1	98	1	0	0	0	0	0	0	0	1	14353	991	35	2		2	SIX5	19	46271385	Silent	SNP	G	TCGA-13-0890-01A-01W-0421-09	24557925	46271385	12857598	51	5274											
NCOA3	8202	genome.wustl.edu	37	20	46277795	46277795	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr20:46277795C>G	ENST00000371998.3	+	19	3784	c.3593C>G	c.(3592-3594)cCt>cGt	p.P1198R	NCOA3_ENST00000372004.3_Missense_Mutation_p.P1198R|NCOA3_ENST00000341724.6_Missense_Mutation_p.P1128R|NCOA3_ENST00000371997.3_Missense_Mutation_p.P1193R			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1198	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.P1198R(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATGGAAAACCCTACTGCTGGT	0.507																																																1	Substitution - Missense(1)	ovary(1)	20											92	82	86					20																	46277795		2203	4300	6503	45711202	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3593C>G	20.37:g.46277795C>G	ENSP00000361066:p.Pro1198Arg		45711202	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988743	0.53934	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02103	4.45;4.63;4.62;4.45	5.75	5.75	0.90469	.	0.324151	0.30840	N	0.008777	T	0.07052	0.0179	L	0.57536	1.79	0.44807	D	0.997812	B;D;B;B;P;B	0.59357	0.029;0.985;0.048;0.048;0.823;0.107	B;P;B;B;B;B	0.54499	0.01;0.754;0.012;0.012;0.32;0.027	T	0.52975	-0.8503	10	0.15952	T	0.53	-3.4982	17.7164	0.88338	0.0:1.0:0.0:0.0	.	1198;1193;1202;1198;1198;1198	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	R	1198;1128;1198;1198;1193	ENSP00000342123:P1128R;ENSP00000361073:P1198R;ENSP00000361066:P1198R;ENSP00000361065:P1193R	ENSP00000345671:P1198R	P	+	2	0	NCOA3	45711202	0.997000	0.39634	0.020000	0.16555	0.088000	0.18126	6.032000	0.70918	2.716000	0.92895	0.655000	0.94253	CCT		0.507	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		G	46277795	C	G	46277795	3	3	98	1	0	0	0	0	1	0	0	0	10230	681	24	3	3689	3	NCOA3	20	46277795	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09		46277795	16747725	52	5275											
AURKA	6790	genome.wustl.edu	37	20	54948523	54948523	+	Silent	SNP	T	T	C			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr20:54948523T>C	ENST00000347343.2	-	7	1062	c.795A>G	c.(793-795)ggA>ggG	p.G265G	AURKA_ENST00000371356.2_Silent_p.G265G|AURKA_ENST00000395911.1_Silent_p.G265G|AURKA_ENST00000395914.1_Silent_p.G265G|AURKA_ENST00000395907.1_Silent_p.G265G|AURKA_ENST00000395909.4_Silent_p.G265G|AURKA_ENST00000395915.3_Silent_p.G265G|AURKA_ENST00000395913.3_Silent_p.G265G|AURKA_ENST00000312783.6_Silent_p.G265G	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.G265G(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CTCCAGCTGATCCAAGAAGTA	0.388																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)											1	Substitution - coding silent(1)	ovary(1)	20											118	107	111					20																	54948523		2203	4300	6503	54381930	SO:0001819	synonymous_variant	6790			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11393	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 47", "Aurora-A kinase"	603072	"serine/threonine kinase 15", " serine/threonine kinase 6"	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.795A>G	20.37:g.54948523T>C			54381930	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Silent	SNP	ENST00000347343.2	37	CCDS13451.1																																																																																				0.388	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		C	54948523	T	C	54948523	2	2	98	1	0	0	0	0	0	0	0	1	1221	1422	50	4		4	AURKA	20	54948523	Silent	SNP	T	TCGA-13-0890-01A-01W-0421-09	8670728	54948523	8076997	53	5276											
MYT1	4661	genome.wustl.edu	37	20	62843483	62843483	+	Silent	SNP	G	G	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr20:62843483G>A	ENST00000328439.1	+	9	1873	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	MYT1_ENST00000536311.1_Silent_p.T503T|MYT1_ENST00000360149.4_Silent_p.T205T	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T503T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACCGCAACACGCACAGAAGGT	0.667																																					GBM(59;481 1041 20555 21139 33705)											1	Substitution - coding silent(1)	ovary(1)	20											107	101	103					20																	62843483		2203	4300	6503	62313927	SO:0001819	synonymous_variant	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1509G>A	20.37:g.62843483G>A			62313927	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	CCDS13558.1																																																																																				0.667	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		A	62843483	G	A	62843483	2	1	98	1	0	0	0	0	0	0	0	1	10106	1074	38	1		1	MYT1	20	62843483	Silent	SNP	G	TCGA-13-0890-01A-01W-0421-09	7894960	62843483	182037	54	5277											
APOBEC3B	9582	genome.wustl.edu	37	22	39387497	39387497	+	Missense_Mutation	SNP	C	C	T	rs149274572	byFrequency	TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr22:39387497C>T	ENST00000333467.3	+	6	929	c.884C>T	c.(883-885)gCg>gTg	p.A295V	APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.A295V|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.A270V	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	295					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A295V(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GAAGTGCGTGCGTTCCTTCAG	0.577													C|||	7	0.00139776	0.0053	0	5008	,	,		15307	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	22						C	VAL/ALA	21,4375		0,21,2177	111	110	110		884	-4	0	22	dbSNP_134	110	1,8565		0,1,4282	no	missense	APOBEC3B	NM_004900.3	64	0,22,6459	TT,TC,CC		0.0117,0.4777,0.1697	benign	295/383	39387497	22,12940	2198	4283	6481	37717443	SO:0001583	missense	9582			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.884C>T	22.37:g.39387497C>T	ENSP00000327459:p.Ala295Val		37717443	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	4.157	0.027634	0.08054	0.004777	1.17E-4	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66099	-0.19;-0.19;-0.19	2.0	-3.99	0.04069	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.47173	0.1431	L	0.38175	1.15	0.09310	N	1	B;B	0.19073	0.033;0.01	B;B	0.09377	0.004;0.003	T	0.10042	-1.0647	9	0.49607	T	0.09	.	9.2359	0.37466	0.7252:0.1511:0.1237:0.0	.	270;295	B0QYD2;Q9UH17	.;ABC3B_HUMAN	V	270;295;295	ENSP00000385068:A270V;ENSP00000385060:A295V;ENSP00000327459:A295V	ENSP00000327459:A295V	A	+	2	0	APOBEC3B	37717443	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.248000	0.01189	-3.168000	0.00226	-1.861000	0.00560	GCG		0.577	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		T	39387497	C	T	39387497	3	4	98	1	0	0	0	0	1	0	0	0	790	768	27	1	906	1	APOBEC3B	22	39387497	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09		39387497	11917069	55	5278											
PHF21B	112885	genome.wustl.edu	37	22	45312458	45312458	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chr22:45312458T>G	ENST00000313237.5	-	4	416	c.266A>C	c.(265-267)gAc>gCc	p.D89A	PHF21B_ENST00000404079.2_Missense_Mutation_p.D77A|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.D77A|PHF21B_ENST00000396103.3_Missense_Mutation_p.D89A	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	89							zinc ion binding (GO:0008270)	p.D89A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGGTGGCCGGTCCCGGCCCGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	22											40	46	44					22																	45312458		2203	4299	6502	43691122	SO:0001583	missense	112885			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.266A>C	22.37:g.45312458T>G	ENSP00000324403:p.Asp89Ala		43691122	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525287	0.85600	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.06	5.06	0.68205	.	0.451973	0.21489	N	0.073715	T	0.28863	0.0716	L	0.43152	1.355	0.43084	D	0.994743	P;P;P;P	0.50943	0.94;0.897;0.835;0.917	P;B;B;B	0.47044	0.535;0.402;0.227;0.37	T	0.02539	-1.1144	10	0.26408	T	0.33	-0.8524	14.8574	0.70347	0.0:0.0:0.0:1.0	.	77;89;77;89	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	A	89;89;77;77;77	ENSP00000324403:D89A;ENSP00000379410:D89A;ENSP00000385105:D77A;ENSP00000388619:D77A;ENSP00000401294:D77A	ENSP00000324403:D89A	D	-	2	0	PHF21B	43691122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.942000	0.75928	1.903000	0.55091	0.533000	0.62120	GAC		0.627	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		G	45312458	T	G	45312458	3	3	98	1	0	0	0	0	1	0	0	0	11834	1667	58	5	1369	5	PHF21B	22	45312458	Missense_Mutation	SNP	T	TCGA-13-0890-01A-01W-0421-09	5924961	45312458	5992108	56	5279											
TMEM27	57393	genome.wustl.edu	37	X	15646102	15646102	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chrX:15646102G>A	ENST00000380342.3	-	6	916	c.661C>T	c.(661-663)Cct>Tct	p.P221S		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	221					positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)	p.P221S(1)		endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					CTTCAGAGAGGGGTGAGCCTC	0.433																																																1	Substitution - Missense(1)	ovary(1)	X											121	94	103					X																	15646102		2203	4300	6503	15556023	SO:0001583	missense	57393			AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"collectrin"	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.661C>T	X.37:g.15646102G>A	ENSP00000369699:p.Pro221Ser		15556023	B2R9M1|Q6UW07	Missense_Mutation	SNP	ENST00000380342.3	37	CCDS14170.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440855	0.43326	.	.	ENSG00000147003	ENST00000380342	T	0.40756	1.02	5.87	5.01	0.66863	.	0.330121	0.36815	N	0.002384	T	0.20251	0.0487	N	0.12182	0.205	0.31212	N	0.698476	B	0.30709	0.291	B	0.29598	0.104	T	0.24440	-1.0160	10	0.02654	T	1	-21.0157	9.9342	0.41541	0.095:0.0:0.905:0.0	.	221	Q9HBJ8	TMM27_HUMAN	S	221	ENSP00000369699:P221S	ENSP00000369699:P221S	P	-	1	0	TMEM27	15556023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.505000	0.45424	1.229000	0.43630	0.594000	0.82650	CCT		0.433	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665		A	15646102	G	A	15646102	3	1	98	1	0	0	0	0	1	0	0	0	16152	1232	43	2	11	2	TMEM27	23	15646102	Missense_Mutation	SNP	G	TCGA-13-0890-01A-01W-0421-09		15646102	139624458	57	5280											
AWAT1	158833	genome.wustl.edu	37	X	69455988	69455988	+	Splice_Site	SNP	C	C	T			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chrX:69455988C>T	ENST00000374521.3	+	3	295	c.254C>T	c.(253-255)aCg>aTg	p.T85M	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	85					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)	p.T165M(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TTCCCCATTACGGTAAGTATC	0.483																																																1	Substitution - Missense(1)	ovary(1)	X											135	113	121					X																	69455988		2203	4300	6503	69372713	SO:0001630	splice_region_variant	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.255+1C>T	X.37:g.69455988C>T			69372713	Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	c	11.18	1.562919	0.27915	.	.	ENSG00000204195	ENST00000374521	T	0.14144	2.53	5.25	2.17	0.27698	.	0.262350	0.31909	N	0.006875	T	0.15739	0.0379	M	0.84948	2.725	0.09310	N	1	B	0.28584	0.216	B	0.21708	0.036	T	0.30851	-0.9964	10	0.72032	D	0.01	-0.7886	2.7563	0.05294	0.3799:0.3822:0.1446:0.0932	.	85	Q58HT5	AWAT1_HUMAN	M	85	ENSP00000363645:T85M	ENSP00000363645:T85M	T	+	2	0	AWAT1	69372713	0.348000	0.24861	0.253000	0.24343	0.121000	0.20230	-0.111000	0.10807	0.442000	0.26555	0.591000	0.81541	ACG		0.483	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579	Missense_Mutation	T	69455988	C	T	69455988	5	4	98	1	0	0	0	0	0	0	1	0	1234	550	19	1	264	1	AWAT1	23	69455988	Splice_Site	SNP	C	TCGA-13-0890-01A-01W-0421-09	53809886	69455988	85814572	58	5281											
TAF1	6872	genome.wustl.edu	37	X	70627868	70627868	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chrX:70627868C>G	ENST00000373790.4	+	28	4299	c.4248C>G	c.(4246-4248)gaC>gaG	p.D1416E	TAF1_ENST00000276072.3_Missense_Mutation_p.D1437E|TAF1_ENST00000423759.1_Missense_Mutation_p.D1437E|TAF1_ENST00000449580.1_Missense_Mutation_p.D1416E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1416	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D1416E(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTGTAAAGGACTACTACAAAA	0.478																																																1	Substitution - Missense(1)	ovary(1)	X											179	125	143					X																	70627868		2203	4300	6503	70544593	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4248C>G	X.37:g.70627868C>G	ENSP00000362895:p.Asp1416Glu		70544593	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.75|16.75	3.208268|3.208268	0.58343|0.58343	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072|ENST00000463163;ENST00000437147	T;T;T;T|.	0.26223|.	1.75;1.75;1.75;1.75|.	4.41|4.41	2.61|2.61	0.31194|0.31194	Bromodomain (5);Bromodomain, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74943|0.74943	0.3783|0.3783	M|M	0.88906|0.88906	2.99|2.99	0.50467|0.50467	D|D	0.99987|0.99987	D;P;D|.	0.69078|.	0.988;0.608;0.997|.	D;P;D|.	0.73380|.	0.974;0.659;0.98|.	T|T	0.73439|0.73439	-0.3982|-0.3982	10|5	0.87932|.	D|.	0|.	.|.	8.0345|8.0345	0.30484|0.30484	0.0:0.6901:0.0:0.3099|0.0:0.6901:0.0:0.3099	.|.	1416;1416;1437|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	E|S	1416;1416;1437;122;122;1437|82;71	ENSP00000362895:D1416E;ENSP00000389000:D1416E;ENSP00000406549:D1437E;ENSP00000276072:D1437E|.	ENSP00000276072:D1437E|.	D|T	+|+	3|2	2|0	TAF1|TAF1	70544593|70544593	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.221000|0.221000	0.17680|0.17680	0.322000|0.322000	0.23283|0.23283	0.422000|0.422000	0.28245|0.28245	GAC|ACT		0.478	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		G	70627868	C	G	70627868	3	3	98	1	0	0	0	0	1	0	0	0	15513	564	20	3	4421	3	TAF1	23	70627868	Missense_Mutation	SNP	C	TCGA-13-0890-01A-01W-0421-09	1171880	70627868	84642692	59	5282											
BCORL1	63035	genome.wustl.edu	37	X	129147148	129147148	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0890-01A-01W-0421-09	TCGA-13-0890-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	15b867fb-7a7b-4158-9abd-91870ba77eb7	29711d3a-d06a-45e5-a4a1-98527b64431f	g.chrX:129147148A>T	ENST00000218147.7	+	4	597	c.400A>T	c.(400-402)Aac>Tac	p.N134Y	BCORL1_ENST00000540052.1_Missense_Mutation_p.N134Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.N134Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.N134Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	134					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.N134Y(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CGAGGCCAGCAACAGCAGGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											36	30	32					X																	129147148		2203	4300	6503	128974829	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.400A>T	X.37:g.129147148A>T	ENSP00000218147:p.Asn134Tyr		128974829	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.907976	0.33721	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.41065	1.01;1.37;1.01;1.01	5.01	-1.64	0.08318	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B;B	0.18863	0.031;0.018	B;B	0.21360	0.034;0.019	T	0.22243	-1.0222	8	.	.	.	-0.0334	1.8462	0.03160	0.3831:0.1422:0.3399:0.1347	.	134;134	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	Y	134	ENSP00000218147:N134Y;ENSP00000307541:N134Y;ENSP00000352253:N134Y;ENSP00000437775:N134Y	.	N	+	1	0	BCORL1	128974829	0.003000	0.15002	0.049000	0.19019	0.910000	0.53928	0.119000	0.15626	-0.446000	0.07149	0.430000	0.28490	AAC		0.622	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129147148	A	T	129147148	3	4	98	1	0	0	0	0	1	0	0	0	1387	130	5	5	410	5	BCORL1	23	129147148	Missense_Mutation	SNP	A	TCGA-13-0890-01A-01W-0421-09	58519280	129147148	26123412	60	5283											
ERRFI1	54206	broad.mit.edu	37	1	8074100	8074100	+	Missense_Mutation	SNP	T	T	C	rs141040294		TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr1:8074100T>C	ENST00000377482.5	-	4	782	c.559A>G	c.(559-561)Aca>Gca	p.T187A	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	187					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)	p.T187A(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGAAAGTGTAGAGTCTTCT	0.458																																																1	Substitution - Missense(1)	ovary(1)	1						T	ALA/THR	0,4406		0,0,2203	60	62	61		559	-4.7	0	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERRFI1	NM_018948.3	58	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	187/463	8074100	1,13005	2203	4300	6503	7996687	SO:0001583	missense	54206			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.559A>G	1.37:g.8074100T>C	ENSP00000366702:p.Thr187Ala		7996687	B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	CCDS94.1	.	.	.	.	.	.	.	.	.	.	T	4.701	0.130363	0.08981	0.0	1.16E-4	ENSG00000116285	ENST00000377482	T	0.71817	-0.6	5.26	-4.67	0.03319	.	0.849652	0.10589	N	0.656985	T	0.44414	0.1292	N	0.16478	0.41	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	10	0.08599	T	0.76	-15.0722	8.3732	0.32427	0.1119:0.5279:0.0:0.3603	.	187	Q9UJM3	ERRFI_HUMAN	A	187	ENSP00000366702:T187A	ENSP00000366702:T187A	T	-	1	0	ERRFI1	7996687	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	0.477000	0.22196	-0.463000	0.06973	0.459000	0.35465	ACA		0.458	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		C	8074100	T	C	8074100	3	2	99	1	0	0	0	0	1	0	0	0	5244	1638	57	4	833	4	ERRFI1	1	8074100	Missense_Mutation	SNP	T	TCGA-13-0891-01A-01W-0420-08		8074100	241176521	1	5284											
THRAP3	9967	broad.mit.edu	37	1	36752576	36752576	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr1:36752576C>G	ENST00000354618.5	+	4	969	c.745C>G	c.(745-747)Cca>Gca	p.P249A	THRAP3_ENST00000469141.2_Missense_Mutation_p.P249A	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	249	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P249A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAGCGAAGCCCAGCTCTCAA	0.612			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	ovary(1)	1											47	47	47					1																	36752576		2203	4300	6503	36525163	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.745C>G	1.37:g.36752576C>G	ENSP00000346634:p.Pro249Ala		36525163	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852809	0.71719	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14391	2.51;2.51	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.36082	0.0954	L	0.54323	1.7	0.51233	D	0.999916	D	0.76494	0.999	D	0.83275	0.996	T	0.01290	-1.1394	10	0.72032	D	0.01	-4.6577	19.1531	0.93496	0.0:1.0:0.0:0.0	.	249	Q9Y2W1	TR150_HUMAN	A	249	ENSP00000346634:P249A;ENSP00000433825:P249A	ENSP00000346634:P249A	P	+	1	0	THRAP3	36525163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.160000	0.50739	2.753000	0.94483	0.655000	0.94253	CCA		0.612	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		G	36752576	C	G	36752576	3	3	99	1	0	0	0	0	1	0	0	0	15874	623	22	3	751	3	THRAP3	1	36752576	Missense_Mutation	SNP	C	TCGA-13-0891-01A-01W-0420-08	28678476	36752576	212498045	2	5285											
MAST2	23139	broad.mit.edu	37	1	46489482	46489482	+	Missense_Mutation	SNP	G	G	A	rs200134348	byFrequency	TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr1:46489482G>A	ENST00000361297.2	+	15	1893	c.1610G>A	c.(1609-1611)cGc>cAc	p.R537H	MAST2_ENST00000372009.2_Missense_Mutation_p.R467H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.R537H(2)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACCCGGCAGCGCTTTGCCATG	0.577													G|||	3	0.000599042	0	0.0043	5008	,	,		20495	0		0	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(2)	1											76	76	76					1																	46489482		2203	4300	6503	46262069	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1610G>A	1.37:g.46489482G>A	ENSP00000354671:p.Arg537His		46262069		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	33	5.228884	0.95173	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.66460	-0.21;-0.21;-0.21	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052387	0.85682	D	0.000000	T	0.67344	0.2883	N	0.21617	0.685	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.985;0.674;0.985;0.989;0.999	T	0.75502	-0.3295	10	0.87932	D	0	-19.5952	19.526	0.95206	0.0:0.0:1.0:0.0	.	211;467;211;467;537	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	H	537;467;211;422	ENSP00000354671:R537H;ENSP00000361079:R467H;ENSP00000361078:R422H	ENSP00000354671:R537H	R	+	2	0	MAST2	46262069	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.967000	0.87967	2.704000	0.92352	0.484000	0.47621	CGC		0.577	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		A	46489482	G	A	46489482	3	1	99	1	0	0	0	0	1	0	0	0	9325	1087	38	1	1668	1	MAST2	1	46489482	Missense_Mutation	SNP	G	TCGA-13-0891-01A-01W-0420-08	9736906	46489482	202761139	3	5286											
CPS1	1373	broad.mit.edu	37	2	211456662	211456662	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	T	T	-	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr2:211456662delT	ENST00000233072.5	+	10	1251	c.1055delT	c.(1054-1056)cttfs	p.L352fs	CPS1_ENST00000451903.2_5'Flank|CPS1_ENST00000430249.2_Frame_Shift_Del_p.L358fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	352	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.F353fs*2(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGAAACCACTTTTTGTGAAT	0.393																																																1	Deletion - Frameshift(1)	ovary(1)	2											74	68	70					2																	211456662		2203	4300	6503	211164907	SO:0001589	frameshift_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1055delT	2.37:g.211456662delT	ENSP00000233072:p.Leu352fs		211164907	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Frame_Shift_Del	DEL	ENST00000233072.5	37	CCDS2393.1																																																																																				0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			-	211456662	T	-	211456662	7	5	99	1	0	1	0	1	0	0	0	0	3823	1609	56	0	1115	0	CPS1	2	211456662	Frame_Shift_Del	DEL	T	TCGA-13-0891-01A-01W-0420-08		211456662	31742711	4	5287											
IL17RB	55540	broad.mit.edu	37	3	53882694	53882694	+	Missense_Mutation	SNP	G	G	A	rs140254923	byFrequency	TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr3:53882694G>A	ENST00000288167.3	+	2	73	c.64G>A	c.(64-66)Gtt>Att	p.V22I	CHDH_ENST00000315251.6_5'Flank	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	22					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)	p.V22I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCCACAGACCGTTCAATGTGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	3						G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	219	211	214		64	-1	0.5	3	dbSNP_134	214	0,8600		0,0,4300	yes	missense	IL17RB	NM_018725.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	22/503	53882694	3,13003	2203	4300	6503	53857734	SO:0001583	missense	55540			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.64G>A	3.37:g.53882694G>A	ENSP00000288167:p.Val22Ile		53857734	Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.058681	0.00390	6.81E-4	0.0	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.21932	1.98;1.98	4.78	-1.02	0.10135	.	0.540098	0.16404	N	0.215883	T	0.03959	0.0111	N	0.00237	-1.79	0.21020	N	0.999804	B	0.02656	0.0	B	0.04013	0.001	T	0.45041	-0.9288	10	0.13853	T	0.58	-4.1142	8.867	0.35291	0.7376:0.0:0.2624:0.0	.	22	Q9NRM6	I17RB_HUMAN	I	22	ENSP00000288167:V22I;ENSP00000418638:V22I	ENSP00000288167:V22I	V	+	1	0	IL17RB	53857734	0.867000	0.29959	0.529000	0.27951	0.009000	0.06853	0.120000	0.15647	-0.172000	0.10779	-1.697000	0.00723	GTT		0.443	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		A	53882694	G	A	53882694	3	1	99	1	0	0	0	0	1	0	0	0	7640	1145	40	1	70	1	IL17RB	3	53882694	Missense_Mutation	SNP	G	TCGA-13-0891-01A-01W-0420-08		53882694	144139736	5	5288											
IGSF10	285313	broad.mit.edu	37	3	151165416	151165416	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr3:151165416G>C	ENST00000282466.3	-	4	2352	c.2353C>G	c.(2353-2355)Caa>Gaa	p.Q785E		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	785					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.Q785E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGGGAGTTGGGTGACCACT	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											83	77	79					3																	151165416		2203	4300	6503	152648106	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2353C>G	3.37:g.151165416G>C	ENSP00000282466:p.Gln785Glu		152648106	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156009	0.01686	.	.	ENSG00000152580	ENST00000282466	T	0.67171	-0.25	5.31	5.31	0.75309	.	0.368557	0.19853	N	0.104584	T	0.54727	0.1876	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.43376	-0.9395	10	0.06757	T	0.87	.	9.9717	0.41759	0.0:0.1297:0.6103:0.26	.	785	Q6WRI0	IGS10_HUMAN	E	785	ENSP00000282466:Q785E	ENSP00000282466:Q785E	Q	-	1	0	IGSF10	152648106	0.272000	0.24172	0.009000	0.14445	0.017000	0.09413	3.274000	0.51631	2.474000	0.83562	0.591000	0.81541	CAA		0.507	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151165416	G	C	151165416	3	2	99	1	0	0	0	0	1	0	0	0	7597	1357	47	3	5578	3	IGSF10	3	151165416	Missense_Mutation	SNP	G	TCGA-13-0891-01A-01W-0420-08	97282722	151165416	46857014	6	5289											
PPARGC1A	10891	broad.mit.edu	37	4	23797452	23797452	+	Missense_Mutation	SNP	C	C	T	rs200187877		TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr4:23797452C>T	ENST00000264867.2	-	13	2509	c.2390G>A	c.(2389-2391)cGc>cAc	p.R797H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	797	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R797H(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATGTTACCTGCGCAAGCTTCT	0.458													C|||	1	0.000199681	0	0	5008	,	,		19968	0		0.001	False		,,,				2504	0				Esophageal Squamous(29;694 744 13796 34866 44181)											1	Substitution - Missense(1)	ovary(1)	4						C	HIS/ARG	0,4406		0,0,2203	110	100	103		2390	5.4	1	4		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPARGC1A	NM_013261.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	797/799	23797452	1,13005	2203	4300	6503	23406550	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2390G>A	4.37:g.23797452C>T	ENSP00000264867:p.Arg797His		23406550	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.49	3.403546	0.62288	0.0	1.16E-4	ENSG00000109819	ENST00000264867	T	0.33865	1.39	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	N	0.25485	0.75	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.14699	-1.0463	10	0.10902	T	0.67	-7.0206	19.5823	0.95473	0.0:1.0:0.0:0.0	.	797	Q9UBK2	PRGC1_HUMAN	H	797	ENSP00000264867:R797H	ENSP00000264867:R797H	R	-	2	0	PPARGC1A	23406550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.050000	0.71063	2.695000	0.91970	0.655000	0.94253	CGC		0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		T	23797452	C	T	23797452	3	4	99	1	0	0	0	0	1	0	0	0	12300	768	27	1	10	1	PPARGC1A	4	23797452	Missense_Mutation	SNP	C	TCGA-13-0891-01A-01W-0420-08		23797452	167356824	7	5290											
UNC5C	8633	broad.mit.edu	37	4	96199475	96199475	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr4:96199475C>T	ENST00000453304.1	-	4	877	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	UNC5C_ENST00000504962.1_Missense_Mutation_p.E177K|UNC5C_ENST00000506749.1_Missense_Mutation_p.E177K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	177	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.E177K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGACACTTCCTTTCCTAGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											152	135	141					4																	96199475		2203	4300	6503	96418498	SO:0001583	missense	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.529G>A	4.37:g.96199475C>T	ENSP00000406022:p.Glu177Lys		96418498	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492032	0.96339	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	L	0.55743	1.74	0.80722	D	1	P;P;P	0.47191	0.866;0.891;0.761	P;P;B	0.48304	0.507;0.573;0.396	T	0.74601	-0.3611	10	0.72032	D	0.01	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	177;177;177	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	K	177;136;177;177;177	ENSP00000406022:E177K;ENSP00000426924:E177K;ENSP00000426153:E177K;ENSP00000425117:E177K	ENSP00000328673:E136K	E	-	1	0	UNC5C	96418498	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.776000	0.85560	2.654000	0.90174	0.563000	0.77884	GAA		0.408	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		T	96199475	C	T	96199475	3	4	99	1	0	0	0	0	1	0	0	0	16993	864	30	2	2318	2	UNC5C	4	96199475	Missense_Mutation	SNP	C	TCGA-13-0891-01A-01W-0420-08	72402023	96199475	94954801	8	5291											
GNL1	2794	broad.mit.edu	37	6	30521185	30521185	+	Silent	SNP	G	G	A	rs150038929		TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr6:30521185G>A	ENST00000376621.3	-	6	1720	c.750C>T	c.(748-750)caC>caT	p.H250H		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	250	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.H250H(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAAGGACGACGTGGAGCTGGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	6						G		1,3021		0,1,1510	158	168	165		750	1.6	0.8	6	dbSNP_134	165	0,5418		0,0,2709	no	coding-synonymous	GNL1	NM_005275.3		0,1,4219	AA,AG,GG		0.0,0.0331,0.0118		250/608	30521185	1,8439	1511	2709	4220	30629164	SO:0001819	synonymous_variant	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.750C>T	6.37:g.30521185G>A			30629164	B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	CCDS4680.1																																																																																				0.567	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			A	30521185	G	A	30521185	2	1	99	1	0	0	0	0	0	0	0	1	6535	1136	40	1		1	GNL1	6	30521185	Silent	SNP	G	TCGA-13-0891-01A-01W-0420-08		30521185	140593882	9	5292											
ZNF3	7551	broad.mit.edu	37	7	99669002	99669002	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr7:99669002C>T	ENST00000424697.1	-	6	1411	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.E369K|ZNF3_ENST00000299667.4_Missense_Mutation_p.E369K	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	369				GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019). {ECO:0000305}.	cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.E369K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TCCATACATTCGTAGGGCTTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											90	99	96					7																	99669002		2203	4300	6503	99506938	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1105G>A	7.37:g.99669002C>T	ENSP00000415358:p.Glu369Lys		99506938	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035105	0.54896	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.06608	3.28;3.28;3.28	4.75	4.75	0.60458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000043	T	0.02418	0.0074	N	0.01761	-0.735	0.29096	N	0.88181	P;P	0.51449	0.513;0.945	B;B	0.42959	0.019;0.403	T	0.40608	-0.9554	10	0.11794	T	0.64	-15.046	9.0988	0.36656	0.0:0.9012:0.0:0.0988	.	352;369	B3KRP4;P17036	.;ZNF3_HUMAN	K	369	ENSP00000415358:E369K;ENSP00000306372:E369K;ENSP00000299667:E369K	ENSP00000299667:E369K	E	-	1	0	ZNF3	99506938	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.377000	0.07456	2.648000	0.89879	0.655000	0.94253	GAA		0.468	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		T	99669002	C	T	99669002	3	4	99	1	0	0	0	0	1	0	0	0	17829	893	31	1	368	1	ZNF3	7	99669002	Missense_Mutation	SNP	C	TCGA-13-0891-01A-01W-0420-08		99669002	59469661	10	5293											
ZBTB34	403341	broad.mit.edu	37	9	129642137	129642137	+	Missense_Mutation	SNP	C	C	A	rs117557953		TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr9:129642137C>A	ENST00000373452.2	+	1	511	c.447C>A	c.(445-447)aaC>aaA	p.N149K	ZBTB34_ENST00000319119.4_Missense_Mutation_p.N153K			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N153K(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						AGAGTCGAAACGGAGTGAAAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	9											66	71	69					9																	129642137		2056	4209	6265	128681958	SO:0001583	missense	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.447C>A	9.37:g.129642137C>A	ENSP00000362551:p.Asn149Lys		128681958	Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	9.930	1.214563	0.22289	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.08807	3.05;3.06	5.33	-5.16	0.02857	.	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	L	0.47716	1.5	0.50171	D	0.999853	D	0.69078	0.997	D	0.74348	0.983	T	0.51148	-0.8742	10	0.02654	T	1	.	14.9198	0.70829	0.0:0.5515:0.0:0.4485	.	149	Q8NCN2	ZBT34_HUMAN	K	153;149	ENSP00000317534:N153K;ENSP00000362551:N149K	ENSP00000317534:N153K	N	+	3	2	ZBTB34	128681958	0.515000	0.26210	0.529000	0.27951	0.056000	0.15407	-0.300000	0.08243	-0.768000	0.04626	-0.793000	0.03317	AAC		0.537	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		A	129642137	C	A	129642137	3	1	99	1	0	0	0	0	1	0	0	0	17537	535	19	3	449	3	ZBTB34	9	129642137	Missense_Mutation	SNP	C	TCGA-13-0891-01A-01W-0420-08		129642137	11571294	11	5294											
ANK3	288	broad.mit.edu	37	10	61834058	61834058	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr10:61834058G>C	ENST00000280772.2	-	37	6772	c.6581C>G	c.(6580-6582)cCt>cGt	p.P2194R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2194					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P2194R(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAAGGTTTAGGTGACACAGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											119	119	119					10																	61834058		2203	4300	6503	61504064	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6581C>G	10.37:g.61834058G>C	ENSP00000280772:p.Pro2194Arg		61504064	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409004	0.42715	.	.	ENSG00000151150	ENST00000280772	T	0.63096	-0.02	5.93	5.04	0.67666	.	0.000000	0.41605	D	0.000842	T	0.53238	0.1784	L	0.55481	1.735	0.80722	D	1	P	0.37015	0.578	B	0.30782	0.12	T	0.56269	-0.8007	10	0.48119	T	0.1	.	11.1508	0.48458	0.14:0.0:0.86:0.0	.	2194	Q12955	ANK3_HUMAN	R	2194	ENSP00000280772:P2194R	ENSP00000280772:P2194R	P	-	2	0	ANK3	61504064	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	3.365000	0.52335	1.527000	0.49086	0.643000	0.83706	CCT		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61834058	G	C	61834058	3	2	99	1	0	0	0	0	1	0	0	0	622	1000	35	3	6893	3	ANK3	10	61834058	Missense_Mutation	SNP	G	TCGA-13-0891-01A-01W-0420-08		61834058	73700689	12	5295											
CCAR1	55749	broad.mit.edu	37	10	70502218	70502218	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr10:70502218C>G	ENST00000265872.6	+	6	529	c.410C>G	c.(409-411)tCc>tGc	p.S137C	CCAR1_ENST00000543719.1_Missense_Mutation_p.S122C|CCAR1_ENST00000535016.1_Missense_Mutation_p.S122C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	137					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.S137C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ACACCAAGGTCCAGTCAACAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	10											222	186	198					10																	70502218		2203	4300	6503	70172224	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.410C>G	10.37:g.70502218C>G	ENSP00000265872:p.Ser137Cys		70172224	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865115	0.71949	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	T;T;T;T;T	0.31510	1.49;1.85;1.85;1.85;1.87	5.82	5.82	0.92795	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	N	0.24115	0.695	0.58432	D	0.999996	D;D;D	0.89917	0.994;0.999;1.0	D;D;D	0.71656	0.929;0.974;0.964	T	0.42207	-0.9465	10	0.72032	D	0.01	-6.379	20.1086	0.97902	0.0:1.0:0.0:0.0	.	122;137;111	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	C	137;122;137;122;122;111	ENSP00000265872:S137C;ENSP00000441820:S122C;ENSP00000445254:S122C;ENSP00000439252:S122C;ENSP00000438610:S111C	ENSP00000265872:S137C	S	+	2	0	CCAR1	70172224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.024000	0.70857	2.756000	0.94617	0.563000	0.77884	TCC		0.438	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		G	70502218	C	G	70502218	3	3	99	1	0	0	0	0	1	0	0	0	2730	855	30	3	428	3	CCAR1	10	70502218	Missense_Mutation	SNP	C	TCGA-13-0891-01A-01W-0420-08	8668160	70502218	65032529	13	5296											
ING4	51147	broad.mit.edu	37	12	6762177	6762177	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr12:6762177G>A	ENST00000396807.4	-	4	354	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	ING4_ENST00000412586.2_Missense_Mutation_p.R106C|ING4_ENST00000341550.4_Missense_Mutation_p.R106C|ING4_ENST00000446105.2_Missense_Mutation_p.R106C|ING4_ENST00000444704.2_Missense_Mutation_p.R82C|ING4_ENST00000423703.2_Missense_Mutation_p.R106C|ING4_ENST00000486287.1_5'UTR	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	106					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R106C(1)		central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						GCCTCAAAACGGGCCAGGTCT	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											61	62	62					12																	6762177		2203	4300	6503	6632438	SO:0001583	missense	51147			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"Zinc fingers, PHD-type"	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.316C>T	12.37:g.6762177G>A	ENSP00000380024:p.Arg106Cys		6632438	A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Missense_Mutation	SNP	ENST00000396807.4	37	CCDS44813.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013698	0.75161	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000423703;ENST00000412586	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.63	4.63	0.57726	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65595	0.2706	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;0.998	D;D;P;D;D;P	0.79784	0.968;0.967;0.707;0.95;0.993;0.807	T	0.70905	-0.4745	10	0.87932	D	0	0.258	17.7033	0.88301	0.0:0.0:1.0:0.0	.	82;106;106;106;106;106	Q9UNL4-3;A4KYM6;Q9UNL4-4;Q9UNL4-5;Q9UNL4;Q4VBQ6	.;.;.;.;ING4_HUMAN;.	C	106;106;106;82;106;106	ENSP00000343396:R106C;ENSP00000380024:R106C;ENSP00000415903:R106C;ENSP00000397343:R82C;ENSP00000412705:R106C	ENSP00000343396:R106C	R	-	1	0	ING4	6632438	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.400000	0.81607	0.655000	0.94253	CGT		0.493	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2	NM_198287		A	6762177	G	A	6762177	3	1	99	1	0	0	0	0	1	0	0	0	7738	1116	39	1	453	1	ING4	12	6762177	Missense_Mutation	SNP	G	TCGA-13-0891-01A-01W-0420-08		6762177	127089718	14	5297											
CLEC1A	51267	broad.mit.edu	37	12	10233859	10233859	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr12:10233859C>T	ENST00000315330.4	-	3	430	c.368G>A	c.(367-369)cGt>cAt	p.R123H	CLEC1A_ENST00000457018.2_Missense_Mutation_p.R90H|CLEC1A_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	123					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R123H(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ATACAGCTCACGACAGAGTTT	0.463																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	12											109	112	111					12																	10233859		2203	4300	6503	10125126	SO:0001583	missense	51267			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.368G>A	12.37:g.10233859C>T	ENSP00000326407:p.Arg123His		10125126	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946124	0.73672	.	.	ENSG00000150048	ENST00000315330;ENST00000457018	T;T	0.17370	2.28;2.28	5.06	3.2	0.36748	.	0.159238	0.30752	N	0.008952	T	0.33818	0.0876	M	0.69823	2.125	0.53688	D	0.99997	D;D	0.76494	0.999;0.999	P;D	0.72338	0.828;0.977	T	0.02244	-1.1189	10	0.38643	T	0.18	.	7.6201	0.28181	0.0:0.8287:0.0:0.1713	.	90;123	E9PFB4;Q8NC01	.;CLC1A_HUMAN	H	123;90	ENSP00000326407:R123H;ENSP00000415048:R90H	ENSP00000326407:R123H	R	-	2	0	CLEC1A	10125126	0.991000	0.36638	0.786000	0.31890	0.940000	0.58332	1.300000	0.33436	2.330000	0.79161	0.563000	0.77884	CGT		0.463	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		T	10233859	C	T	10233859	3	4	99	1	0	0	0	0	1	0	0	0	3505	536	19	1	490	1	CLEC1A	12	10233859	Missense_Mutation	SNP	C	TCGA-13-0891-01A-01W-0420-08	3471682	10233859	123618036	15	5298											
KNTC1	9735	broad.mit.edu	37	12	123087765	123087765	+	Silent	SNP	C	C	T			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr12:123087765C>T	ENST00000333479.7	+	48	5253	c.5076C>T	c.(5074-5076)atC>atT	p.I1692I	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.I117I	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1692					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.I1692I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTATTGCCATCAGCCTTGCCC	0.393																																																1	Substitution - coding silent(1)	ovary(1)	12											49	45	46					12																	123087765		1845	4087	5932	121653718	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5076C>T	12.37:g.123087765C>T			121653718	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																				0.393	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			T	123087765	C	T	123087765	2	4	99	1	0	0	0	0	0	0	0	1	8428	816	29	2		2	KNTC1	12	123087765	Silent	SNP	C	TCGA-13-0891-01A-01W-0420-08	112853906	123087765	10764130	16	5299											
MAB21L1	4081	broad.mit.edu	37	13	36049848	36049848	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr13:36049848C>T	ENST00000379919.4	-	1	984	c.428G>A	c.(427-429)tGt>tAt	p.C143Y	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	143					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.C143Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCGGTAGCTACATTTGTCTAC	0.547																																																1	Substitution - Missense(1)	ovary(1)	13											66	65	65					13																	36049848		2203	4300	6503	34947848	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.428G>A	13.37:g.36049848C>T	ENSP00000369251:p.Cys143Tyr		34947848	Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037839	0.75617	.	.	ENSG00000180660	ENST00000379919	T	0.07800	3.16	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	P	0.54174	0.744	T	0.04017	-1.0984	10	0.13470	T	0.59	-12.6505	19.7375	0.96212	0.0:1.0:0.0:0.0	.	143	Q13394	MB211_HUMAN	Y	143	ENSP00000369251:C143Y	ENSP00000369251:C143Y	C	-	2	0	MAB21L1	34947848	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	TGT		0.547	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		T	36049848	C	T	36049848	3	4	99	1	0	0	0	0	1	0	0	0	9141	478	17	2	655	2	MAB21L1	13	36049848	Missense_Mutation	SNP	C	TCGA-13-0891-01A-01W-0420-08		36049848	79120030	17	5300											
OR4K5	79317	broad.mit.edu	37	14	20389056	20389056	+	Silent	SNP	C	C	T			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr14:20389056C>T	ENST00000315915.4	+	1	316	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAGTGGCTGCATAGCCCAAA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	14											245	261	255					14																	20389056		2203	4300	6503	19458896	SO:0001819	synonymous_variant	79317			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.291C>T	14.37:g.20389056C>T			19458896	Q6IFA7	Silent	SNP	ENST00000315915.4	37	CCDS32024.1																																																																																				0.418	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		T	20389056	C	T	20389056	2	4	99	1	0	0	0	0	0	0	0	1	11073	718	25	2		2	OR4K5	14	20389056	Silent	SNP	C	TCGA-13-0891-01A-01W-0420-08		20389056	86960484	18	5301											
PKD1L2	114780	broad.mit.edu	37	16	81253841	81253841	+	RNA	SNP	G	G	A	rs529919593		TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr16:81253841G>A	ENST00000525539.1	-	0	134				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.L45L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGTGCGTCCGAGTGGCACAA	0.557													G|||	1	0.000199681	0	0	5008	,	,		21746	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	16											101	99	100					16																	81253841		2037	4190	6227	79811342			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81253841G>A			79811342	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37																																																																																					0.557	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81253841	G	A	81253841	1	1	99	0	1	0	0	0	0	0	0	0	11965	1045	37	1		1	PKD1L2	16	81253841	RNA	SNP	G	TCGA-13-0891-01A-01W-0420-08		81253841	9100912	19	5302											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	99	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-13-0891-01A-01W-0420-08		7578190	73617020	20	5303											
CDK12	51755	broad.mit.edu	37	17	37676281	37676289	+	In_Frame_Del	DEL	ACAGACCCT	ACAGACCCT	-			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	ACAGACCCT	ACAGACCCT	-	-	ACAGACCCT	ACAGACCCT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr17:37676281_37676289delACAGACCCT	ENST00000447079.4	+	11	3069_3077	c.3036_3044delACAGACCCT	c.(3034-3045)gaacagacccta>gaa	p.QTL1013del	CDK12_ENST00000430627.2_In_Frame_Del_p.QTL1013del	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1013	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E1012E(1)|p.T1014_Q1016del(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCACAGCTGAACAGACCCTACAGAGCGAC	0.469			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	2	Substitution - coding silent(1)|Deletion - In frame(1)	ovary(1)|lung(1)	17																																								34929815	SO:0001651	inframe_deletion	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3036_3044delACAGACCCT	17.37:g.37676281_37676289delACAGACCCT	ENSP00000398880:p.Gln1013_Leu1015del		34929807	A7E2B2|B4DYX4|B9EIQ6|O94978	In_Frame_Del	DEL	ENST00000447079.4	37	CCDS11337.1																																																																																				0.469	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		-	37676289	ACAGACCCT	-	37676281	7	5	99	1	0	1	0	1	0	0	0	0	3128	40	2	0	3078	0	CDK12	17	37676281	In_Frame_Del	DEL	ACAGACCCT	TCGA-13-0891-01A-01W-0420-08	30098091	37676281	43518929	21	5304											
GRIN2C	2905	broad.mit.edu	37	17	72842205	72842205	+	Splice_Site	SNP	C	C	T			TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr17:72842205C>T	ENST00000293190.5	-	11	2496	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	GRIN2C_ENST00000347612.4_Splice_Site_p.G784R	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	784					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.G784R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGTACCCACCGTCCCCCAGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											128	107	114					17																	72842205		2203	4300	6503	70353800	SO:0001630	splice_region_variant	2905				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2350+1G>A	17.37:g.72842205C>T			70353800	B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405349	0.42715	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.66460	-0.21	4.21	3.24	0.37175	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.058852	0.64402	N	0.000002	T	0.78457	0.4286	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.78262	-0.2272	9	.	.	.	.	11.8662	0.52495	0.0:0.9133:0.0:0.0867	.	818;784	Q8IW23;Q14957	.;NMDE3_HUMAN	R	784;818	ENSP00000293190:G784R	.	G	-	1	0	GRIN2C	70353800	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	7.599000	0.82757	1.115000	0.41800	0.561000	0.74099	GGA		0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		Missense_Mutation	T	72842205	C	T	72842205	5	4	99	1	0	0	0	0	0	0	1	0	6781	666	23	1	1363	1	GRIN2C	17	72842205	Splice_Site	SNP	C	TCGA-13-0891-01A-01W-0420-08	35165924	72842205	8353005	22	5305											
KIAA0427	9811	broad.mit.edu	37	18	46385824	46385824	+	Missense_Mutation	SNP	G	G	A	rs369410150		TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr18:46385824G>A	ENST00000256413.3	+	12	1986	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	CTIF_ENST00000382998.4_Missense_Mutation_p.R566Q	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	564	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.R564Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						ATGCTGACCCGGTCGCTGCTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	18						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	87	80	83		1697,1691	5.1	1	18		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CTIF	NM_001142397.1,NM_014772.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	566/601,564/599	46385824	1,13005	2203	4300	6503	44639822	SO:0001583	missense	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1691G>A	18.37:g.46385824G>A	ENSP00000256413:p.Arg564Gln		44639822	B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353780	0.95830	0.0	1.16E-4	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.28454	1.61;1.61	5.07	5.07	0.68467	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	L	0.48986	1.54	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.962	T	0.51679	-0.8675	10	0.59425	D	0.04	-22.5623	18.0457	0.89331	0.0:0.0:1.0:0.0	.	566;564	O43310-2;O43310	.;CTIF_HUMAN	Q	564;566;516	ENSP00000256413:R564Q;ENSP00000372459:R566Q	ENSP00000256413:R564Q	R	+	2	0	CTIF	44639822	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.832000	0.99423	2.382000	0.81193	0.561000	0.74099	CGG		0.602	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		A	46385824	G	A	46385824	3	1	99	1	0	0	0	0	1	0	0	0	8176	1116	39	1	1739	1	KIAA0427	18	46385824	Missense_Mutation	SNP	G	TCGA-13-0891-01A-01W-0420-08		46385824	31691424	23	5306											
EVI5L	115704	broad.mit.edu	37	19	7912660	7912660	+	Silent	SNP	C	C	T	rs373550043		TCGA-13-0891-01A-01W-0420-08	TCGA-13-0891-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cb0ddaed-3a2a-44de-b162-fdef2553346f	3a0233fb-ebb8-4040-8bba-a0a71358e810	g.chr19:7912660C>T	ENST00000270530.4	+	3	376	c.180C>T	c.(178-180)ggC>ggT	p.G60G	EVI5L_ENST00000538904.2_Silent_p.G60G	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	60					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.G60G(1)		breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCATGAATGGCTCGCGGCGGA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	19						C	,	0,4406		0,0,2203	44	44	44		180,180	1.5	1	19		44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EVI5L	NM_001159944.1,NM_145245.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	60/806,60/795	7912660	1,13005	2203	4300	6503	7818660	SO:0001819	synonymous_variant	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.180C>T	19.37:g.7912660C>T			7818660	B9A6I9	Silent	SNP	ENST00000270530.4	37	CCDS12188.1																																																																																				0.657	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		T	7912660	C	T	7912660	2	4	99	1	0	0	0	0	0	0	0	1	5290	784	28	2		2	EVI5L	19	7912660	Silent	SNP	C	TCGA-13-0891-01A-01W-0420-08		7912660	51216323	24	5307											
FAM183A	440585	genome.wustl.edu	37	1	43618548	43618548	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:43618548G>T	ENST00000335282.4	+	3	243	c.243G>T	c.(241-243)aaG>aaT	p.K81N	FAM183A_ENST00000410048.1_Missense_Mutation_p.K53N|FAM183A_ENST00000409337.1_Intron	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	81								p.K81N(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CAAGGAAGAAGTACCCAGAGA	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											75	77	77					1																	43618548		2018	4189	6207	43391135	SO:0001583	missense	440585			AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.243G>T	1.37:g.43618548G>T	ENSP00000334415:p.Lys81Asn		43391135	B7ZBL8	Missense_Mutation	SNP	ENST00000335282.4	37	CCDS44126.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021536	0.54576	.	.	ENSG00000186973	ENST00000409706;ENST00000410048;ENST00000410025;ENST00000409396;ENST00000335282	.	.	.	4.91	1.32	0.21799	.	0.061220	0.64402	D	0.000010	T	0.70945	0.3282	M	0.82630	2.6	0.35187	D	0.773011	D	0.76494	0.999	D	0.64877	0.93	T	0.75306	-0.3364	9	0.87932	D	0	.	7.464	0.27312	0.7608:0.0:0.2392:0.0	.	81	A6NL82	F183A_HUMAN	N	81;53;29;81;81	.	ENSP00000334415:K81N	K	+	3	2	FAM183A	43391135	1.000000	0.71417	0.908000	0.35775	0.769000	0.43574	0.839000	0.27586	0.030000	0.15379	-0.258000	0.10820	AAG		0.517	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3	NM_001101376		T	43618548	G	T	43618548	3	4	100	1	0	0	0	0	1	0	0	0	5510	1020	36	3	253	3	FAM183A	1	43618548	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09		43618548	205632073	1	5308											
SLC5A9	200010	genome.wustl.edu	37	1	48697697	48697697	+	Silent	SNP	C	C	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:48697697C>A	ENST00000438567.2	+	7	823	c.771C>A	c.(769-771)acC>acA	p.T257T	SLC5A9_ENST00000236495.5_Silent_p.T282T|SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000533824.1_Silent_p.T278T|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	257					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.T275T(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCCCCAACACCACCTGTCACC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	1											138	126	130					1																	48697697		2203	4300	6503	48470284	SO:0001819	synonymous_variant	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.771C>A	1.37:g.48697697C>A			48470284	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	CCDS30709.2																																																																																				0.607	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		A	48697697	C	A	48697697	2	1	100	1	0	0	0	0	0	0	0	1	14675	581	21	3		3	SLC5A9	1	48697697	Silent	SNP	C	TCGA-13-0893-01B-01W-0494-09	5079149	48697697	200552924	2	5309											
COL11A1	1301	genome.wustl.edu	37	1	103491420	103491420	+	Intron	SNP	T	T	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:103491420T>A	ENST00000370096.3	-	7	1210				COL11A1_ENST00000358392.2_Missense_Mutation_p.E290V|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E290V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGAAAATTTTTCAGATTTGGG	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											132	140	137					1																	103491420		2202	4299	6501	103264008	SO:0001627	intron_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.898-251A>T	1.37:g.103491420T>A			103264008	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587864	0.66105	.	.	ENSG00000060718	ENST00000358392;ENST00000427239	T;T	0.71579	-0.58;-0.51	5.35	5.35	0.76521	.	0.703483	0.13226	N	0.403996	T	0.60856	0.2301	M	0.62723	1.935	0.80722	D	1	P	0.48503	0.911	P	0.44561	0.453	T	0.60250	-0.7300	10	0.29301	T	0.29	.	13.9636	0.64196	0.0:0.0:0.0:1.0	.	290	P12107-2	.	V	290	ENSP00000351163:E290V;ENSP00000408640:E290V	ENSP00000351163:E290V	E	-	2	0	COL11A1	103264008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.374000	0.66167	2.042000	0.60477	0.519000	0.50382	GAA		0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103491420	T	A	103491420	1	1	100	0	1	0	0	0	0	0	0	0	3667	1783	62	5		5	COL11A1	1	103491420	Intron	SNP	T	TCGA-13-0893-01B-01W-0494-09	54793723	103491420	145759201	3	5310											
SLC16A4	9122	genome.wustl.edu	37	1	110924345	110924345	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:110924345G>A	ENST00000369779.4	-	4	542	c.293C>T	c.(292-294)aCt>aTt	p.T98I	LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.T36I|SLC16A4_ENST00000369781.4_Missense_Mutation_p.T98I|SLC16A4_ENST00000472422.2_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	98					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.T98I(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATATCCACCAGTAACAACGAA	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											109	101	104					1																	110924345		2203	4300	6503	110725868	SO:0001583	missense	9122			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.293C>T	1.37:g.110924345G>A	ENSP00000358794:p.Thr98Ile		110725868	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	CCDS823.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426784	0.43020	.	.	ENSG00000168679	ENST00000369779;ENST00000369781;ENST00000541986	T;T;T	0.56611	0.45;0.45;0.45	4.96	3.08	0.35506	Major facilitator superfamily domain, general substrate transporter (1);	0.755149	0.13366	N	0.393306	T	0.34424	0.0897	L	0.55481	1.735	0.40995	D	0.98488	B;B;B;B	0.26602	0.093;0.111;0.019;0.154	B;B;B;B	0.34590	0.124;0.186;0.102;0.079	T	0.33727	-0.9857	10	0.59425	D	0.04	.	8.1864	0.31341	0.0852:0.3707:0.5442:0.0	.	36;98;98;98	B4DJ67;Q53FH9;Q8WU09;O15374	.;.;.;MOT5_HUMAN	I	98;98;36	ENSP00000358794:T98I;ENSP00000358796:T98I;ENSP00000446087:T36I	ENSP00000358794:T98I	T	-	2	0	SLC16A4	110725868	0.116000	0.22171	0.166000	0.22797	0.991000	0.79684	2.500000	0.45381	0.795000	0.33922	0.655000	0.94253	ACT		0.428	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		A	110924345	G	A	110924345	3	1	100	1	0	0	0	0	1	0	0	0	14413	1029	36	2	1194	2	SLC16A4	1	110924345	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	7432925	110924345	138326276	4	5311											
C1orf162	128346	genome.wustl.edu	37	1	112020639	112020639	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:112020639C>T	ENST00000343534.5	+	6	612	c.362C>T	c.(361-363)gCc>gTc	p.A121V	C1orf162_ENST00000369718.3_Missense_Mutation_p.A96V|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	121						integral component of membrane (GO:0016021)		p.A121V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTTACCTATGCCAGCACAACT	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											103	98	99					1																	112020639		2203	4300	6503	111822162	SO:0001583	missense	128346			BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.362C>T	1.37:g.112020639C>T	ENSP00000344218:p.Ala121Val		111822162	Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	CCDS837.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589791	0.66105	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	T;T	0.59772	0.24;0.25	5.11	4.15	0.48705	.	0.000000	0.44688	D	0.000423	T	0.53238	0.1784	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.45804	-0.9236	10	0.87932	D	0	-10.5295	11.5922	0.50951	0.0:0.8212:0.1788:0.0	.	121	Q8NEQ5	CA162_HUMAN	V	121;96	ENSP00000344218:A121V;ENSP00000358732:A96V	ENSP00000344218:A121V	A	+	2	0	C1orf162	111822162	0.052000	0.20516	0.192000	0.23308	0.011000	0.07611	0.626000	0.24492	2.651000	0.90000	0.655000	0.94253	GCC		0.443	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		T	112020639	C	T	112020639	3	4	100	1	0	0	0	0	1	0	0	0	2010	739	26	2	380	2	C1orf162	1	112020639	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	1096294	112020639	137229982	5	5312											
SMG5	23381	genome.wustl.edu	37	1	156233315	156233315	+	Silent	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:156233315G>A	ENST00000361813.5	-	13	2046	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R	SMG5_ENST00000489907.2_5'Flank|SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	634					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.R634R(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCCGACAGGAGCGTCCACTGG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	1											94	84	88					1																	156233315		2203	4300	6503	154499939	SO:0001819	synonymous_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1902C>T	1.37:g.156233315G>A			154499939	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	CCDS1137.1																																																																																				0.562	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		A	156233315	G	A	156233315	2	1	100	1	0	0	0	0	0	0	0	1	14799	958	34	2		2	SMG5	1	156233315	Silent	SNP	G	TCGA-13-0893-01B-01W-0494-09	44212676	156233315	93017306	6	5313											
RGS4	5999	genome.wustl.edu	37	1	163043354	163043354	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:163043354T>A	ENST00000367909.6	+	4	660	c.320T>A	c.(319-321)cTa>cAa	p.L107Q	RGS4_ENST00000527809.1_Missense_Mutation_p.L89Q|RGS4_ENST00000367906.3_Missense_Mutation_p.L89Q|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Intron|RGS4_ENST00000531057.1_Missense_Mutation_p.L107Q|RGS4_ENST00000421743.2_Missense_Mutation_p.L204Q	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	107	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.L107Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CCATCTAAACTAAGTCCCAAG	0.358																																					Ovarian(76;1257 1738 3039 6086)											1	Substitution - Missense(1)	ovary(1)	1											100	92	95					1																	163043354		2203	4300	6503	161309978	SO:0001583	missense	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.320T>A	1.37:g.163043354T>A	ENSP00000356885:p.Leu107Gln		161309978	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072974	0.76415	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000531057;ENST00000527809;ENST00000367906;ENST00000528938	T;T;T;T;T;T	0.02345	4.33;4.33;4.33;4.33;4.33;4.33	4.99	3.84	0.44239	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.143577	0.44688	D	0.000429	T	0.06781	0.0173	M	0.74546	2.27	0.45791	D	0.998672	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.983	T	0.02766	-1.1113	9	0.87932	D	0	.	10.1069	0.42539	0.0:0.0:0.1688:0.8312	.	107;204	P49798;A7XA59	RGS4_HUMAN;.	Q	204;107;107;89;89;89	ENSP00000397181:L204Q;ENSP00000356885:L107Q;ENSP00000436106:L107Q;ENSP00000433261:L89Q;ENSP00000356882:L89Q;ENSP00000432194:L89Q	ENSP00000356882:L89Q	L	+	2	0	RGS4	161309978	1.000000	0.71417	0.576000	0.28549	0.999000	0.98932	7.691000	0.84191	0.894000	0.36317	0.528000	0.53228	CTA		0.358	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		A	163043354	T	A	163043354	3	1	100	1	0	0	0	0	1	0	0	0	13310	1522	53	5	629	5	RGS4	1	163043354	Missense_Mutation	SNP	T	TCGA-13-0893-01B-01W-0494-09	6810039	163043354	86207267	7	5314											
RCSD1	92241	genome.wustl.edu	37	1	167659343	167659343	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:167659343A>T	ENST00000367854.3	+	4	587	c.256A>T	c.(256-258)Att>Ttt	p.I86F	RCSD1_ENST00000537350.1_Missense_Mutation_p.I56F	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	86					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.I86F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCGCCTCTGATTGAGAAGCT	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											136	123	127					1																	167659343		2203	4300	6503	165925967	SO:0001583	missense	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.256A>T	1.37:g.167659343A>T	ENSP00000356828:p.Ile86Phe		165925967	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657781	0.88154	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.65364	-0.15;-0.13	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.67700	2.07	0.40428	D	0.979914	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.76498	-0.2937	9	0.62326	D	0.03	-12.029	16.0681	0.80903	1.0:0.0:0.0:0.0	.	56;86	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	F	86;56	ENSP00000356828:I86F;ENSP00000439409:I56F	ENSP00000356828:I86F	I	+	1	0	RCSD1	165925967	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.963000	0.70372	2.188000	0.69820	0.528000	0.53228	ATT		0.423	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		T	167659343	A	T	167659343	3	4	100	1	0	0	0	0	1	0	0	0	13188	333	12	5	270	5	RCSD1	1	167659343	Missense_Mutation	SNP	A	TCGA-13-0893-01B-01W-0494-09	4615989	167659343	81591278	8	5315											
RC3H1	149041	genome.wustl.edu	37	1	173953671	173953671	+	Silent	SNP	T	T	C			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:173953671T>C	ENST00000367696.2	-	3	669	c.318A>G	c.(316-318)ttA>ttG	p.L106L	RC3H1_ENST00000367694.2_Silent_p.L106L|RC3H1_ENST00000258349.4_Silent_p.L106L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	106					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L106L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGTACAATGCTAATTCTTCTA	0.383																																																1	Substitution - coding silent(1)	ovary(1)	1											121	100	107					1																	173953671		2203	4300	6503	172220294	SO:0001819	synonymous_variant	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.318A>G	1.37:g.173953671T>C			172220294	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	37	CCDS30940.1																																																																																				0.383	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		C	173953671	T	C	173953671	2	2	100	1	0	0	0	0	0	0	0	1	13169	1519	53	4		4	RC3H1	1	173953671	Silent	SNP	T	TCGA-13-0893-01B-01W-0494-09	6294328	173953671	75296950	9	5316											
RYR2	6262	genome.wustl.edu	37	1	237863644	237863644	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr1:237863644C>A	ENST00000366574.2	+	65	9561	c.9244C>A	c.(9244-9246)Cac>Aac	p.H3082N	RYR2_ENST00000360064.6_Missense_Mutation_p.H3080N|RYR2_ENST00000542537.1_Missense_Mutation_p.H3066N|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3082					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H3080N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGTTCACTCACACCCGAAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											46	46	46					1																	237863644		1926	4134	6060	235930267	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9244C>A	1.37:g.237863644C>A	ENSP00000355533:p.His3082Asn		235930267	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682263	0.88542	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.96685	-4.09;-4.06;-4.08	4.97	4.97	0.65823	.	0.000000	0.64402	U	0.000007	D	0.94804	0.8322	M	0.64404	1.975	0.80722	D	1	P	0.45827	0.867	B	0.37451	0.25	D	0.95482	0.8561	10	0.62326	D	0.03	.	18.6031	0.91256	0.0:1.0:0.0:0.0	.	3082	Q92736	RYR2_HUMAN	N	3082;3080;3066;37;77	ENSP00000355533:H3082N;ENSP00000353174:H3080N;ENSP00000443798:H3066N	ENSP00000353174:H3080N	H	+	1	0	RYR2	235930267	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.449000	0.82847	0.557000	0.71058	CAC		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237863644	C	A	237863644	3	1	100	1	0	0	0	0	1	0	0	0	13772	826	29	3	9502	3	RYR2	1	237863644	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	63909973	237863644	11386977	10	5317											
APOB	338	genome.wustl.edu	37	2	21260035	21260035	+	Silent	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:21260035C>G	ENST00000233242.1	-	6	757	c.630G>C	c.(628-630)ggG>ggC	p.G210G	APOB_ENST00000399256.4_Silent_p.G210G	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	210	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G210G(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCACACTGCCCCAGGTCTC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	2											165	132	143					2																	21260035		2203	4300	6503	21113540	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.630G>C	2.37:g.21260035C>G			21113540	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.522	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21260035	C	G	21260035	2	3	100	1	0	0	0	0	0	0	0	1	785	726	26	3		3	APOB	2	21260035	Silent	SNP	C	TCGA-13-0893-01B-01W-0494-09		21260035	221939338	11	5318											
SOS1	6654	genome.wustl.edu	37	2	39213416	39213416	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:39213416G>T	ENST00000426016.1	-	24	3637	c.3551C>A	c.(3550-3552)cCt>cAt	p.P1184H	SOS1_ENST00000395038.2_Missense_Mutation_p.P1169H|SOS1_ENST00000402219.2_Missense_Mutation_p.P1184H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1184					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1184H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GGGTTGCCTAGGAGGAATGGC	0.393									Noonan syndrome																																							1	Substitution - Missense(1)	ovary(1)	2											73	80	77					2																	39213416		2203	4300	6503	39066920	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3551C>A	2.37:g.39213416G>T	ENSP00000387784:p.Pro1184His		39066920	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542113	0.65198	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	D;D;D	0.84516	-1.52;-1.52;-1.86	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89481	0.3750	10	0.40728	T	0.16	.	19.559	0.95364	0.0:0.0:1.0:0.0	.	1184	Q07889	SOS1_HUMAN	H	1184;1184;901;1169	ENSP00000387784:P1184H;ENSP00000384675:P1184H;ENSP00000378479:P1169H	ENSP00000378479:P1169H	P	-	2	0	SOS1	39066920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.554000	0.90689	2.706000	0.92434	0.650000	0.86243	CCT		0.393	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		T	39213416	G	T	39213416	3	4	100	1	0	0	0	0	1	0	0	0	14939	1000	35	3	454	3	SOS1	2	39213416	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	17953381	39213416	203985957	12	5319											
SPTBN1	6711	genome.wustl.edu	37	2	54858068	54858068	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:54858068C>T	ENST00000356805.4	+	16	3165	c.2884C>T	c.(2884-2886)Ctc>Ttc	p.L962F	SPTBN1_ENST00000333896.5_Missense_Mutation_p.L949F	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	962					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.L962F(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAACTACCACCTCGAGTGCAA	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											56	49	52					2																	54858068		2203	4300	6503	54711572	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2884C>T	2.37:g.54858068C>T	ENSP00000349259:p.Leu962Phe		54711572	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281172	0.80692	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.50277	0.75;0.75	5.46	4.58	0.56647	.	0.062778	0.64402	N	0.000003	T	0.68091	0.2963	M	0.78801	2.425	0.58432	D	0.999995	P;D	0.59357	0.593;0.985	B;D	0.69142	0.288;0.962	T	0.73094	-0.4091	10	0.87932	D	0	.	14.2168	0.65797	0.0:0.9282:0.0:0.0718	.	949;962	Q01082-3;Q01082	.;SPTB2_HUMAN	F	962;949	ENSP00000349259:L962F;ENSP00000334156:L949F	ENSP00000334156:L949F	L	+	1	0	SPTBN1	54711572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	1.312000	0.45043	0.655000	0.94253	CTC		0.572	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54858068	C	T	54858068	3	4	100	1	0	0	0	0	1	0	0	0	15121	681	24	2	3055	2	SPTBN1	2	54858068	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	15644652	54858068	188341305	13	5320											
ST6GAL2	84620	genome.wustl.edu	37	2	107460242	107460242	+	Silent	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:107460242G>A	ENST00000409382.3	-	2	802	c.192C>T	c.(190-192)gcC>gcT	p.A64A	ST6GAL2_ENST00000409087.3_Silent_p.A64A|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.A64A	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	64					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.A64A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCTCATGTGCGGCGCCCATGA	0.716																																																1	Substitution - coding silent(1)	ovary(1)	2											14	17	16					2																	107460242		2178	4265	6443	106826674	SO:0001819	synonymous_variant	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.192C>T	2.37:g.107460242G>A			106826674	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	CCDS2073.1																																																																																				0.716	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		A	107460242	G	A	107460242	2	1	100	1	0	0	0	0	0	0	0	1	15224	1103	39	1		1	ST6GAL2	2	107460242	Silent	SNP	G	TCGA-13-0893-01B-01W-0494-09	52602174	107460242	135739131	14	5321											
XIRP2	129446	genome.wustl.edu	37	2	168107681	168107681	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:168107681A>G	ENST00000409195.1	+	9	9868	c.9779A>G	c.(9778-9780)gAg>gGg	p.E3260G	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3260G|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3038G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3085					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E3260G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACGCTCAAGAGGAAATCAGG	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											67	63	64					2																	168107681		1902	4130	6032	167815927	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9779A>G	2.37:g.168107681A>G	ENSP00000386840:p.Glu3260Gly		167815927	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	9.602	1.128976	0.21041	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.05382	3.48;3.48;3.45	5.61	4.45	0.53987	.	0.050567	0.85682	N	0.000000	T	0.07369	0.0186	L	0.45137	1.4	0.58432	D	0.999999	B;B;P	0.41041	0.022;0.037;0.736	B;B;B	0.38500	0.018;0.039;0.275	T	0.13442	-1.0509	10	0.87932	D	0	-10.5571	10.9768	0.47472	0.9251:0.0:0.0749:0.0	.	3085;3085;3038	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	3260;3260;3038;674	ENSP00000386840:E3260G;ENSP00000295237:E3260G;ENSP00000387255:E3038G	ENSP00000295237:E3260G	E	+	2	0	XIRP2	167815927	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	3.819000	0.55686	1.058000	0.40530	0.377000	0.23210	GAG		0.418	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168107681	A	G	168107681	3	3	100	1	0	0	0	0	1	0	0	0	17430	304	11	4	9809	4	XIRP2	2	168107681	Missense_Mutation	SNP	A	TCGA-13-0893-01B-01W-0494-09	60647439	168107681	75091692	15	5322											
CHN1	1123	genome.wustl.edu	37	2	175779838	175779838	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:175779838A>T	ENST00000409900.3	-	5	521	c.208T>A	c.(208-210)Tac>Aac	p.Y70N	CHN1_ENST00000409156.3_Missense_Mutation_p.Y70N|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	70	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.Y70N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CGGATGAGGTAGCTCCCCTCA	0.483			T	TAF15	extraskeletal myxoid chondrosarcoma																																		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	1	Substitution - Missense(1)	ovary(1)	2											36	37	37					2																	175779838		1914	4124	6038	175488084	SO:0001583	missense	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.208T>A	2.37:g.175779838A>T	ENSP00000386741:p.Tyr70Asn		175488084	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.008288	0.93346	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.68181	-0.31;-0.31	5.72	5.72	0.89469	SH2 motif (4);	0.054538	0.85682	D	0.000000	D	0.86192	0.5874	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89676	0.3887	10	0.87932	D	0	.	15.1216	0.72447	1.0:0.0:0.0:0.0	.	70;70	B4DV19;P15882	.;CHIN_HUMAN	N	70	ENSP00000386741:Y70N;ENSP00000386470:Y70N	ENSP00000386470:Y70N	Y	-	1	0	CHN1	175488084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.629000	0.90983	2.311000	0.77944	0.533000	0.62120	TAC		0.483	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		T	175779838	A	T	175779838	3	4	100	1	0	0	0	0	1	0	0	0	3362	420	15	5	1207	5	CHN1	2	175779838	Missense_Mutation	SNP	A	TCGA-13-0893-01B-01W-0494-09	7672157	175779838	67419535	16	5323											
TTN	7273	genome.wustl.edu	37	2	179440589	179440589	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:179440589T>C	ENST00000591111.1	-	276	65571	c.65347A>G	c.(65347-65349)Aaa>Gaa	p.K21783E	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K23424E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14484E|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14359E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14551E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20856E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21783	Ig-like 114.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K14359E(1)|p.K20854E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCACTTTTCTTCCCAGCC	0.468																																																2	Substitution - Missense(2)	ovary(2)	2											105	115	112					2																	179440589		2017	4199	6216	179148835	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65347A>G	2.37:g.179440589T>C	ENSP00000465570:p.Lys21783Glu		179148835	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.67	2.603810	0.46423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75206	0.3818	L	0.49350	1.555	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.77523	-0.2556	9	0.87932	D	0	.	16.0659	0.80870	0.0:0.0:0.0:1.0	.	14359;14484;14551;21783	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	20856;14359;14551;14484;14357	ENSP00000343764:K20856E;ENSP00000434586:K14359E;ENSP00000340554:K14551E;ENSP00000352154:K14484E	ENSP00000340554:K14551E	K	-	1	0	TTN	179148835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	2.209000	0.71365	0.533000	0.62120	AAA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179440589	T	C	179440589	3	2	100	1	0	0	0	0	1	0	0	0	16735	1792	62	4	37857	4	TTN	2	179440589	Missense_Mutation	SNP	T	TCGA-13-0893-01B-01W-0494-09	3660751	179440589	63758784	17	5324											
NEUROD1	4760	genome.wustl.edu	37	2	182543473	182543473	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:182543473T>A	ENST00000295108.3	-	2	572	c.115A>T	c.(115-117)Aag>Tag	p.K39*	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	39					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.K39*(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCGTCCTCCTTCTTGTCTGCC	0.592																																																1	Substitution - Nonsense(1)	ovary(1)	2											119	93	102					2																	182543473		2203	4300	6503	182251718	SO:0001587	stop_gained	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.115A>T	2.37:g.182543473T>A	ENSP00000295108:p.Lys39*		182251718	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Nonsense_Mutation	SNP	ENST00000295108.3	37	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	T	40	8.289589	0.98745	.	.	ENSG00000162992	ENST00000295108	.	.	.	5.37	5.37	0.77165	.	0.102483	0.41500	D	0.000879	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8009	13.3837	0.60783	0.0:0.0:0.0:1.0	.	.	.	.	X	39	.	ENSP00000295108:K39X	K	-	1	0	NEUROD1	182251718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.587000	0.82613	2.251000	0.74343	0.528000	0.53228	AAG		0.592	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		A	182543473	T	A	182543473	4	1	100	1	0	0	0	0	0	1	0	0	10348	1792	62	5	959	5	NEUROD1	2	182543473	Nonsense_Mutation	SNP	T	TCGA-13-0893-01B-01W-0494-09	3102884	182543473	60655900	18	5325											
DUSP19	142679	genome.wustl.edu	37	2	183948278	183948278	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:183948278A>G	ENST00000354221.4	+	2	444	c.269A>G	c.(268-270)aAt>aGt	p.N90S	DUSP19_ENST00000342619.6_Missense_Mutation_p.N90S|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	90					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.N90S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						CTGAAAAAGAATAAGGTAAAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	2											94	98	97					2																	183948278		2202	4298	6500	183656523	SO:0001583	missense	142679			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.269A>G	2.37:g.183948278A>G	ENSP00000346160:p.Asn90Ser		183656523	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015708	0.35606	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	D;T	0.85171	-1.95;0.11	5.24	4.07	0.47477	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.580643	0.19616	N	0.110020	T	0.78842	0.4347	L	0.46614	1.455	0.22975	N	0.998489	B;B	0.15141	0.011;0.012	B;B	0.25759	0.012;0.063	T	0.58994	-0.7537	10	0.08179	T	0.78	.	11.4451	0.50118	0.8649:0.0:0.0:0.1351	.	90;90	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	S	90	ENSP00000343905:N90S;ENSP00000346160:N90S	ENSP00000343905:N90S	N	+	2	0	DUSP19	183656523	0.981000	0.34729	1.000000	0.80357	0.938000	0.57974	4.042000	0.57347	0.814000	0.34374	0.482000	0.46254	AAT		0.299	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			G	183948278	A	G	183948278	3	3	100	1	0	0	0	0	1	0	0	0	4818	101	4	4	275	4	DUSP19	2	183948278	Missense_Mutation	SNP	A	TCGA-13-0893-01B-01W-0494-09	1404805	183948278	59251095	19	5326											
FAM126B	285172	genome.wustl.edu	37	2	201846547	201846547	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr2:201846547C>A	ENST00000418596.3	-	12	1226	c.1039G>T	c.(1039-1041)Gca>Tca	p.A347S	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	347						intracellular (GO:0005622)		p.A347S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCTTCATCTGCATCATTCAGG	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											79	78	78					2																	201846547		2203	4300	6503	201554792	SO:0001583	missense	285172			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1039G>T	2.37:g.201846547C>A	ENSP00000393667:p.Ala347Ser		201554792	B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130755	0.37630	.	.	ENSG00000155744	ENST00000418596	T	0.77489	-1.1	5.86	5.86	0.93980	.	0.053051	0.85682	D	0.000000	T	0.61924	0.2386	N	0.14661	0.345	0.54753	D	0.999981	P;B	0.42735	0.788;0.39	B;B	0.36464	0.225;0.142	T	0.62539	-0.6833	10	0.09084	T	0.74	-16.2935	20.2019	0.98263	0.0:1.0:0.0:0.0	.	153;347	B3KUG1;Q8IXS8	.;F126B_HUMAN	S	347	ENSP00000393667:A347S	ENSP00000393667:A347S	A	-	1	0	FAM126B	201554792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.875000	0.69660	2.776000	0.95493	0.655000	0.94253	GCA		0.448	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		A	201846547	C	A	201846547	3	1	100	1	0	0	0	0	1	0	0	0	5430	710	25	3	557	3	FAM126B	2	201846547	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	17898269	201846547	41352826	20	5327											
WDR48	57599	genome.wustl.edu	37	3	39093555	39093555	+	Silent	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr3:39093555G>A	ENST00000302313.5	+	1	67	c.39G>A	c.(37-39)agG>agA	p.R13R	WDR48_ENST00000544962.1_Silent_p.R13R|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	13					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.R13R(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGGGCGGAGGAAAGTGCAGG	0.667																																																1	Substitution - coding silent(1)	ovary(1)	3											68	64	65					3																	39093555		2203	4300	6503	39068559	SO:0001819	synonymous_variant	57599			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.39G>A	3.37:g.39093555G>A			39068559	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Silent	SNP	ENST00000302313.5	37	CCDS33738.1																																																																																				0.667	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		A	39093555	G	A	39093555	2	1	100	1	0	0	0	0	0	0	0	1	17301	1165	41	2		2	WDR48	3	39093555	Silent	SNP	G	TCGA-13-0893-01B-01W-0494-09		39093555	158928875	21	5328											
SETD2	29072	genome.wustl.edu	37	3	47142987	47142987	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr3:47142987C>A	ENST00000409792.3	-	8	5018	c.4976G>T	c.(4975-4977)gGc>gTc	p.G1659V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1659	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.G1156V(1)|p.G1659V(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TAACTCTGAGCCTGAAGGAAC	0.378			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	ovary(2)	3											167	168	168					3																	47142987		2203	4300	6503	47117991	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4976G>T	3.37:g.47142987C>A	ENSP00000386759:p.Gly1659Val		47117991	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	31	5.104348	0.94245	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.90261	-2.64	5.94	5.94	0.96194	SET domain (3);	0.000000	0.53938	D	0.000041	D	0.97820	0.9284	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98698	1.0699	10	0.87932	D	0	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	1659;1659	F2Z317;Q9BYW2	.;SETD2_HUMAN	V	1659	ENSP00000386759:G1659V	ENSP00000386759:G1659V	G	-	2	0	SETD2	47117991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.735000	0.84939	2.820000	0.97059	0.650000	0.86243	GGC		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47142987	C	A	47142987	3	1	100	1	0	0	0	0	1	0	0	0	14134	739	26	3	2774	3	SETD2	3	47142987	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	8049432	47142987	150879443	22	5329											
P2RY13	53829	genome.wustl.edu	37	3	151045909	151045909	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr3:151045909A>G	ENST00000325602.5	-	2	954	c.935T>C	c.(934-936)aTg>aCg	p.M312T	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	312					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.M291T(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TAAGGGATCCATACAAATGTT	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											118	117	117					3																	151045909		2203	4300	6503	152528599	SO:0001583	missense	53829			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.935T>C	3.37:g.151045909A>G	ENSP00000320376:p.Met312Thr		152528599	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814832	0.70912	.	.	ENSG00000181631	ENST00000325602	T	0.27720	1.65	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.046599	0.85682	D	0.000000	T	0.50086	0.1595	L	0.54323	1.7	0.52099	D	0.999949	D	0.63046	0.992	D	0.64877	0.93	T	0.51426	-0.8707	10	0.87932	D	0	-38.8247	15.8697	0.79101	1.0:0.0:0.0:0.0	.	312	Q9BPV8	P2Y13_HUMAN	T	312	ENSP00000320376:M312T	ENSP00000320376:M312T	M	-	2	0	P2RY13	152528599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.929000	0.92859	2.152000	0.67230	0.533000	0.62120	ATG		0.353	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		G	151045909	A	G	151045909	3	3	100	1	0	0	0	0	1	0	0	0	11350	217	8	4	133	4	P2RY13	3	151045909	Missense_Mutation	SNP	A	TCGA-13-0893-01B-01W-0494-09	103902922	151045909	46976521	23	5330											
MTHFD2L	441024	genome.wustl.edu	37	4	75040333	75040333	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr4:75040333G>T	ENST00000395759.2	+	2	281	c.254G>T	c.(253-255)aGt>aTt	p.S85I	MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.S27I|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.S27I	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	85					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)	p.S27I(1)		central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			CCTCACCTCAGTATAATTTTA	0.413																																																1	Substitution - Missense(1)	ovary(1)	4											103	104	103					4																	75040333		2203	4300	6503	75259197	SO:0001583	missense	441024			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.254G>T	4.37:g.75040333G>T	ENSP00000379108:p.Ser85Ile		75259197	Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558844	0.86231	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.29655	1.99;1.56;1.57;1.99	5.48	5.48	0.80851	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.213853	0.56097	D	0.000022	T	0.50514	0.1620	L	0.58925	1.835	0.80722	D	1	D;B	0.57257	0.979;0.138	P;B	0.62560	0.904;0.086	T	0.47636	-0.9102	10	0.87932	D	0	-20.9146	16.8832	0.86069	0.0:0.0:1.0:0.0	.	85;27	Q9H903;Q9H903-3	MTD2L_HUMAN;.	I	85;27;27;27	ENSP00000379108:S85I;ENSP00000330982:S27I;ENSP00000352012:S27I;ENSP00000321984:S27I	ENSP00000321984:S27I	S	+	2	0	MTHFD2L	75259197	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	5.532000	0.67154	2.856000	0.98102	0.643000	0.83706	AGT		0.413	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		T	75040333	G	T	75040333	3	4	100	1	0	0	0	0	1	0	0	0	9930	1029	36	3	260	3	MTHFD2L	4	75040333	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09		75040333	116113943	24	5331											
C7	730	genome.wustl.edu	37	5	40976934	40976934	+	Silent	SNP	C	C	T	rs563401809		TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr5:40976934C>T	ENST00000313164.9	+	16	2516	c.2157C>T	c.(2155-2157)taC>taT	p.Y719Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	719	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Y719Y(1)					Ovarian(839;0.0112)				AAATGCCCTACGAATGTGGGT	0.383													C|||	1	0.000199681	0	0	5008	,	,		20321	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	5											111	111	111					5																	40976934		1933	4133	6066	41012691	SO:0001819	synonymous_variant	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2157C>T	5.37:g.40976934C>T			41012691	Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	CCDS47201.1																																																																																				0.383	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			T	40976934	C	T	40976934	2	4	100	1	0	0	0	0	0	0	0	1	2375	547	19	1		1	C7	5	40976934	Silent	SNP	C	TCGA-13-0893-01B-01W-0494-09		40976934	139938326	25	5332											
ANKHD1	54882	genome.wustl.edu	37	5	139917093	139917093	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr5:139917093G>A	ENST00000360839.2	+	31	7301	c.7147G>A	c.(7147-7149)Gca>Aca	p.A2383T	ANKHD1_ENST00000544120.1_Missense_Mutation_p.A707T|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A2383T|ANKHD1_ENST00000297183.6_Missense_Mutation_p.A2383T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2383						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.A2383T(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTCTGTTGCACAAGCCCC	0.542																																																2	Substitution - Missense(2)	ovary(2)	5											108	98	101					5																	139917093		2203	4300	6503	139897277	SO:0001583	missense	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7147G>A	5.37:g.139917093G>A	ENSP00000354085:p.Ala2383Thr		139897277	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.78|12.78	2.040586|2.040586	0.35989|0.35989	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495|ENST00000435794;ENST00000432301	T;T;T;T;T;T;T|.	0.66280|.	-0.09;-0.2;1.92;1.91;1.46;-0.2;0.86|.	6.08|6.08	0.675|0.675	0.17952|0.17952	.|.	0.376195|.	0.29676|.	N|.	0.011494|.	T|T	0.10508|0.10508	0.0257|0.0257	N|N	0.03115|0.03115	-0.41|-0.41	0.23831|0.23831	N|N	0.996727|0.996727	B;B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B|.	0.04013|.	0.0;0.001;0.001;0.0;0.0;0.001|.	T|T	0.31392|0.31392	-0.9945|-0.9945	10|5	0.19590|.	T|.	0.45|.	.|.	4.5191|4.5191	0.11950|0.11950	0.5535:0.0:0.2788:0.1677|0.5535:0.0:0.2788:0.1677	.|.	707;830;707;2400;2383;2383|.	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	T|Y	2383;2383;2400;1056;922;707;2383;411|873;774	ENSP00000354085:A2383T;ENSP00000297183:A2383T;ENSP00000393204:A1056T;ENSP00000390034:A922T;ENSP00000437687:A707T;ENSP00000432016:A2383T;ENSP00000396882:A411T|.	ENSP00000396882:A411T|.	A|C	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139897277|139897277	0.985000|0.985000	0.35326|0.35326	0.918000|0.918000	0.36340|0.36340	0.993000|0.993000	0.82548|0.82548	2.430000|2.430000	0.44766|0.44766	0.168000|0.168000	0.19655|0.19655	0.591000|0.591000	0.81541|0.81541	GCA|TGC		0.542	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		A	139917093	G	A	139917093	3	1	100	1	0	0	0	0	1	0	0	0	628	1319	46	2	7375	2	ANKHD1	5	139917093	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	98940159	139917093	40998167	26	5333											
HRH2	3274	genome.wustl.edu	37	5	175110476	175110476	+	Silent	SNP	G	G	C			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr5:175110476G>C	ENST00000231683.2	+	1	2013	c.240G>C	c.(238-240)ctG>ctC	p.L80L	HRH2_ENST00000377291.2_Silent_p.L80L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	80					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.L80L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TCTACCAGCTGTCCTGCAAGT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	5											124	95	105					5																	175110476		2203	4300	6503	175043082	SO:0001819	synonymous_variant	3274				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.240G>C	5.37:g.175110476G>C			175043082	B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	CCDS4395.1																																																																																				0.547	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			C	175110476	G	C	175110476	2	2	100	1	0	0	0	0	0	0	0	1	7356	1364	48	3		3	HRH2	5	175110476	Silent	SNP	G	TCGA-13-0893-01B-01W-0494-09	35193383	175110476	5804784	27	5334											
UIMC1	51720	genome.wustl.edu	37	5	176409537	176409537	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr5:176409537G>T	ENST00000377227.4	-	2	212	c.80C>A	c.(79-81)tCt>tAt	p.S27Y	UIMC1_ENST00000506128.1_Missense_Mutation_p.S27Y|UIMC1_ENST00000511320.1_Missense_Mutation_p.S27Y|UIMC1_ENST00000377219.2_Missense_Mutation_p.S27Y			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	27	Necessary for transcriptional repression.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.S27Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACTGACAGAACTGGTAGT	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											209	187	194					5																	176409537		2203	4300	6503	176342143	SO:0001583	missense	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.80C>A	5.37:g.176409537G>T	ENSP00000366434:p.Ser27Tyr		176342143	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	G	6.856	0.527258	0.13066	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000509236;ENST00000507513;ENST00000428382	T;T;T;T;T;T;T	0.59364	1.38;1.38;1.38;1.38;1.38;1.38;0.27	4.81	0.774	0.18521	.	0.528883	0.17338	N	0.177858	T	0.52948	0.1766	L	0.44542	1.39	0.09310	N	1	D;B;B	0.59767	0.986;0.003;0.003	P;B;B	0.54100	0.742;0.003;0.005	T	0.43940	-0.9360	10	0.59425	D	0.04	0.3385	2.9782	0.05945	0.0847:0.2866:0.3346:0.294	.	27;27;27	Q96RL1-5;Q96RL1;D6RCF3	.;UIMC1_HUMAN;.	Y	27	ENSP00000366434:S27Y;ENSP00000366425:S27Y;ENSP00000421926:S27Y;ENSP00000427480:S27Y;ENSP00000423885:S27Y;ENSP00000425163:S27Y;ENSP00000423534:S27Y	ENSP00000366425:S27Y	S	-	2	0	UIMC1	176342143	0.001000	0.12720	0.081000	0.20488	0.123000	0.20343	0.785000	0.26830	0.154000	0.19237	-0.182000	0.12963	TCT		0.423	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		T	176409537	G	T	176409537	3	4	100	1	0	0	0	0	1	0	0	0	16971	942	33	3	2135	3	UIMC1	5	176409537	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	1299061	176409537	4505723	28	5335											
SYNGAP1	8831	genome.wustl.edu	37	6	33411592	33411592	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr6:33411592G>T	ENST00000418600.2	+	15	3364	c.3263G>T	c.(3262-3264)aGc>aTc	p.S1088I	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S1029I|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S1088I	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1088					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.S1088I(1)|p.S1073I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGGCCATCCAGCGGGAATCTA	0.682																																																2	Substitution - Missense(2)	ovary(2)	6											29	36	34					6																	33411592		2196	4296	6492	33519570	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3263G>T	6.37:g.33411592G>T	ENSP00000403636:p.Ser1088Ile		33519570	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544515	0.65198	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.13089	2.62;2.62;2.62	4.23	4.23	0.50019	.	1.098290	0.07057	N	0.833064	T	0.25717	0.0626	L	0.52905	1.665	0.46542	D	0.999093	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.81914	0.995;0.991;0.991	T	0.00717	-1.1596	10	0.87932	D	0	.	14.1653	0.65473	0.0:0.0:1.0:0.0	.	1088;1088;1088	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	I	1088;1088;1074;1029	ENSP00000293748:S1088I;ENSP00000403636:S1088I;ENSP00000412475:S1029I	ENSP00000293748:S1088I	S	+	2	0	SYNGAP1	33519570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.620000	0.83070	2.202000	0.70862	0.591000	0.81541	AGC		0.682	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		T	33411592	G	T	33411592	3	4	100	1	0	0	0	0	1	0	0	0	15447	971	34	3	3321	3	SYNGAP1	6	33411592	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09		33411592	137703475	29	5336											
DST	667	genome.wustl.edu	37	6	56499680	56499680	+	Silent	SNP	A	A	T	rs183601227		TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr6:56499680A>T	ENST00000361203.3	-	21	2632	c.2625T>A	c.(2623-2625)atT>atA	p.I875I	DST_ENST00000421834.2_Silent_p.I875I|DST_ENST00000370754.5_Silent_p.I1053I|DST_ENST00000518935.1_Silent_p.I549I|DST_ENST00000370769.4_Silent_p.I875I|DST_ENST00000312431.6_Silent_p.I875I|DST_ENST00000244364.6_Silent_p.I549I|DST_ENST00000446842.2_Silent_p.I549I|DST_ENST00000370765.6_Silent_p.I549I|DST_ENST00000370788.2_Silent_p.I875I			Q03001	DYST_HUMAN	dystonin	875					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.I549I(1)|p.I875I(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTTCAGTTGAATTATTGTTT	0.348																																																2	Substitution - coding silent(2)	ovary(2)	6											246	239	242					6																	56499680		2203	4300	6503	56607639	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2625T>A	6.37:g.56499680A>T			56607639	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																					0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56499680	A	T	56499680	2	4	100	1	0	0	0	0	0	0	0	1	4783	242	9	5		5	DST	6	56499680	Silent	SNP	A	TCGA-13-0893-01B-01W-0494-09	23088088	56499680	114615387	30	5337											
CNKSR3	154043	genome.wustl.edu	37	6	154743698	154743698	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr6:154743698G>T	ENST00000607772.1	-	9	1431	c.887C>A	c.(886-888)tCt>tAt	p.S296Y	CNKSR3_ENST00000433165.2_Missense_Mutation_p.S121Y|CNKSR3_ENST00000479339.1_Missense_Mutation_p.S216Y	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	296					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.S296Y(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		AAAGTTGAAAGACCCGGTGGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	6											110	118	115					6																	154743698		2203	4300	6503	154785390	SO:0001583	missense	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.887C>A	6.37:g.154743698G>T	ENSP00000475915:p.Ser296Tyr		154785390	Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164297	0.57476	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998;ENST00000454664	T;T;T;T	0.49720	1.38;0.79;0.8;0.77	5.66	5.66	0.87406	PDZ/DHR/GLGF (1);	0.444046	0.24206	N	0.040571	T	0.31575	0.0801	L	0.36672	1.1	0.28003	N	0.935209	P	0.40875	0.731	B	0.43360	0.417	T	0.28073	-1.0055	10	0.66056	D	0.02	.	15.2608	0.73621	0.0:0.1397:0.8603:0.0	.	296	Q6P9H4	CNKR3_HUMAN	Y	71;296;121;216;58;121	ENSP00000356182:S296Y;ENSP00000414185:S121Y;ENSP00000418975:S216Y;ENSP00000406740:S121Y	ENSP00000356178:S71Y	S	-	2	0	CNKSR3	154785390	1.000000	0.71417	0.158000	0.22627	0.536000	0.34869	5.237000	0.65360	2.656000	0.90262	0.655000	0.94253	TCT		0.473	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		T	154743698	G	T	154743698	3	4	100	1	0	0	0	0	1	0	0	0	3608	942	33	3	800	3	CNKSR3	6	154743698	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	98244018	154743698	16371369	31	5338											
ZNF12	7559	genome.wustl.edu	37	7	6736969	6736969	+	Splice_Site	SNP	C	C	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr7:6736969C>A	ENST00000405858.1	-	4	780		c.e4+1		ZNF12_ENST00000342651.5_Splice_Site|ZNF12_ENST00000404360.1_Splice_Site|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12						negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CACTAACACACCTGGATAGCT	0.443																																																0			7											78	79	79					7																	6736969		2040	4220	6260	6703494	SO:0001630	splice_region_variant	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.238+1G>T	7.37:g.6736969C>A			6703494	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Splice_Site	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060394	0.55432	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	.	.	.	4.12	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8025	0.29183	0.0:0.8884:0.0:0.1116	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF12	6703494	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.643000	0.46604	1.336000	0.45506	0.585000	0.79938	.		0.443	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265	Intron	A	6736969	C	A	6736969	5	1	100	1	0	0	0	0	0	0	1	0	17718	521	18	3	1862	3	ZNF12	7	6736969	Splice_Site	SNP	C	TCGA-13-0893-01B-01W-0494-09		6736969	152401694	32	5339											
GLI3	2737	genome.wustl.edu	37	7	42012031	42012031	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr7:42012031G>C	ENST00000395925.3	-	13	2092	c.2008C>G	c.(2008-2010)Cag>Gag	p.Q670E	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	670					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q670E(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGGCTCCCTGAGTCGGTCGG	0.597									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							1	Substitution - Missense(1)	ovary(1)	7											111	113	112					7																	42012031		2203	4300	6503	41978556	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2008C>G	7.37:g.42012031G>C	ENSP00000379258:p.Gln670Glu		41978556	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246245	0.22796	.	.	ENSG00000106571	ENST00000395925	T	0.12774	2.65	5.92	5.92	0.95590	.	0.062777	0.64402	D	0.000003	T	0.12902	0.0313	L	0.44542	1.39	0.80722	D	1	B	0.31435	0.323	B	0.27380	0.079	T	0.06110	-1.0845	10	0.05525	T	0.97	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	670	P10071	GLI3_HUMAN	E	670	ENSP00000379258:Q670E	ENSP00000379258:Q670E	Q	-	1	0	GLI3	41978556	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.475000	0.66787	2.804000	0.96469	0.655000	0.94253	CAG		0.597	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		C	42012031	G	C	42012031	3	2	100	1	0	0	0	0	1	0	0	0	6439	1299	45	3	2746	3	GLI3	7	42012031	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	35275062	42012031	117126632	33	5340											
BAZ1B	9031	genome.wustl.edu	37	7	72877403	72877403	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr7:72877403T>C	ENST00000339594.4	-	12	3436	c.3098A>G	c.(3097-3099)cAt>cGt	p.H1033R	BAZ1B_ENST00000404251.1_Missense_Mutation_p.H1033R	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1033					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.H1033R(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCGTGCTAGATGAATAGAGTG	0.368																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											1	Substitution - Missense(1)	ovary(1)	7											174	179	178					7																	72877403		2203	4300	6503	72515339	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3098A>G	7.37:g.72877403T>C	ENSP00000342434:p.His1033Arg		72515339	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664467	0.67700	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58652	0.32;0.32	5.61	5.61	0.85477	.	0.047201	0.85682	D	0.000000	T	0.44350	0.1289	L	0.32530	0.975	0.50632	D	0.999887	P	0.42123	0.771	B	0.35727	0.209	T	0.37596	-0.9699	10	0.22706	T	0.39	-14.0452	14.9799	0.71303	0.0:0.0:0.0:1.0	.	1033	Q9UIG0	BAZ1B_HUMAN	R	1033	ENSP00000342434:H1033R;ENSP00000385442:H1033R	ENSP00000342434:H1033R	H	-	2	0	BAZ1B	72515339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.444000	0.80532	2.145000	0.66743	0.482000	0.46254	CAT		0.368	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		C	72877403	T	C	72877403	3	2	100	1	0	0	0	0	1	0	0	0	1330	1464	51	4	1385	4	BAZ1B	7	72877403	Missense_Mutation	SNP	T	TCGA-13-0893-01B-01W-0494-09	30865372	72877403	86261260	34	5341											
SEMA3D	223117	genome.wustl.edu	37	7	84651726	84651726	+	Silent	SNP	A	A	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr7:84651726A>G	ENST00000284136.6	-	11	1438	c.1395T>C	c.(1393-1395)gaT>gaC	p.D465D	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D465D(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GAAACATTACATCGTACTGGC	0.363																																					Ovarian(63;442 1191 17318 29975 31528)											1	Substitution - coding silent(1)	ovary(1)	7											221	198	206					7																	84651726		2203	4300	6503	84489662	SO:0001819	synonymous_variant	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1395T>C	7.37:g.84651726A>G			84489662	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	CCDS34676.1																																																																																				0.363	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		G	84651726	A	G	84651726	2	3	100	1	0	0	0	0	0	0	0	1	14030	214	8	4		4	SEMA3D	7	84651726	Silent	SNP	A	TCGA-13-0893-01B-01W-0494-09	11774323	84651726	74486937	35	5342											
OR6V1	346517	genome.wustl.edu	37	7	142750168	142750168	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr7:142750168C>A	ENST00000418316.1	+	1	752	c.731C>A	c.(730-732)aCa>aAa	p.T244K		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T244K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCTCACCTCACACTGGTCTTC	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											124	128	127					7																	142750168		2058	4203	6261	142460290	SO:0001583	missense	346517				CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.731C>A	7.37:g.142750168C>A	ENSP00000396085:p.Thr244Lys		142460290	A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084105	0.55861	.	.	ENSG00000225781	ENST00000418316	T	0.39229	1.09	4.72	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.70002	0.3174	H	0.95679	3.705	0.18873	N	0.999982	D	0.67145	0.996	D	0.68765	0.96	T	0.62464	-0.6849	9	0.87932	D	0	.	7.027	0.24946	0.0:0.7987:0.0:0.2013	.	244	Q8N148	OR6V1_HUMAN	K	244	ENSP00000396085:T244K	ENSP00000396085:T244K	T	+	2	0	OR6V1	142460290	0.005000	0.15991	0.004000	0.12327	0.974000	0.67602	0.869000	0.27996	1.203000	0.43233	0.655000	0.94253	ACA		0.547	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			A	142750168	C	A	142750168	3	1	100	1	0	0	0	0	1	0	0	0	11211	478	17	3	733	3	OR6V1	7	142750168	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	58098442	142750168	16388495	36	5343											
TMEM74	157753	genome.wustl.edu	37	8	109796471	109796471	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr8:109796471G>T	ENST00000297459.3	-	2	1035	c.857C>A	c.(856-858)aCg>aAg	p.T286K	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	286					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.T286K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GTTTTCATTCGTGCTGGTTTT	0.443																																																1	Substitution - Missense(1)	ovary(1)	8											87	84	85					8																	109796471		2203	4300	6503	109865647	SO:0001583	missense	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.857C>A	8.37:g.109796471G>T	ENSP00000297459:p.Thr286Lys		109865647		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	G	8.929	0.962965	0.18583	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.96	0.702	0.18110	.	1.099310	0.06758	N	0.781274	T	0.46367	0.1389	L	0.36672	1.1	0.09310	N	1	B	0.32071	0.355	B	0.31946	0.138	T	0.51529	-0.8694	9	0.48119	T	0.1	1.172	21.061	0.99945	0.0:0.6621:0.3379:0.0	.	286	Q96NL1	TMM74_HUMAN	K	286	.	ENSP00000297459:T286K	T	-	2	0	TMEM74	109865647	0.239000	0.23836	0.001000	0.08648	0.291000	0.27294	2.646000	0.46630	-0.149000	0.11215	0.655000	0.94253	ACG		0.443	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		T	109796471	G	T	109796471	3	4	100	1	0	0	0	0	1	0	0	0	16202	1145	40	3	64	3	TMEM74	8	109796471	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09		109796471	36567551	37	5344											
COL14A1	7373	genome.wustl.edu	37	8	121237330	121237330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr8:121237330G>T	ENST00000297848.3	+	15	2011	c.1741G>T	c.(1741-1743)Gaa>Taa	p.E581*	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.E581*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.E486*|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.E581*(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTGACAGGTTGAAGTCGATCC	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	8											122	117	118					8																	121237330		2203	4300	6503	121306511	SO:0001587	stop_gained	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1741G>T	8.37:g.121237330G>T	ENSP00000297848:p.Glu581*		121306511		Nonsense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	36	5.689335	0.96784	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.	.	.	5.39	5.39	0.77823	.	0.299357	0.35739	N	0.003015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	17.9201	0.88963	0.0:0.0:1.0:0.0	.	.	.	.	X	581;581;486;394	.	ENSP00000247781:E486X	E	+	1	0	COL14A1	121306511	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.864000	0.87037	2.517000	0.84864	0.561000	0.74099	GAA		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121237330	G	T	121237330	4	4	100	1	0	0	0	0	0	1	0	0	3671	1291	45	3	1795	3	COL14A1	8	121237330	Nonsense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	11440859	121237330	25126692	38	5345											
FER1L6	654463	genome.wustl.edu	37	8	124989778	124989778	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr8:124989778T>G	ENST00000522917.1	+	10	1198	c.992T>G	c.(991-993)aTg>aGg	p.M331R	FER1L6_ENST00000399018.1_Missense_Mutation_p.M331R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	331	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.M331R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGGCAGCATGAATGACGTA	0.473																																																1	Substitution - Missense(1)	ovary(1)	8											142	142	142					8																	124989778		2028	4187	6215	125058959	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.992T>G	8.37:g.124989778T>G	ENSP00000428280:p.Met331Arg		125058959		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016268	0.75161	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.09073	3.02;3.02	5.53	5.53	0.82687	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056598	0.64402	U	0.000002	T	0.19005	0.0456	M	0.66939	2.045	0.80722	D	1	P	0.48016	0.904	P	0.50490	0.642	T	0.00516	-1.1694	10	0.40728	T	0.16	.	15.6745	0.77303	0.0:0.0:0.0:1.0	.	331	Q2WGJ9	FR1L6_HUMAN	R	331	ENSP00000428280:M331R;ENSP00000381982:M331R	ENSP00000381982:M331R	M	+	2	0	FER1L6	125058959	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.997000	0.88414	2.109000	0.64355	0.459000	0.35465	ATG		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		G	124989778	T	G	124989778	3	3	100	1	0	0	0	0	1	0	0	0	5815	1464	51	5	1026	5	FER1L6	8	124989778	Missense_Mutation	SNP	T	TCGA-13-0893-01B-01W-0494-09	3752448	124989778	21374244	39	5346											
CYP11B1	1584	genome.wustl.edu	37	8	143961072	143961072	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr8:143961072A>T	ENST00000292427.4	-	1	190	c.158T>A	c.(157-159)cTg>cAg	p.L53Q	CYP11B1_ENST00000517471.1_Missense_Mutation_p.L53Q|CYP11B1_ENST00000377675.3_Missense_Mutation_p.L53Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	53					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L53Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCAGATCTGCAGCAGCCTCAG	0.637									Familial Hyperaldosteronism type I																																							1	Substitution - Missense(1)	ovary(1)	8											69	64	66					8																	143961072		2203	4300	6503	143958074	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.158T>A	8.37:g.143961072A>T	ENSP00000292427:p.Leu53Gln		143958074	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980827	0.53827	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.80824	-0.59;2.42;-1.42	2.96	1.77	0.24775	.	0.309935	0.18092	N	0.151973	D	0.85890	0.5802	M	0.76328	2.33	0.32940	D	0.518255	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.971;0.994;0.992	D	0.84390	0.0554	10	0.56958	D	0.05	.	5.0885	0.14696	0.8439:0.0:0.1561:0.0	.	53;53;53	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	Q	53	ENSP00000292427:L53Q;ENSP00000428043:L53Q;ENSP00000366903:L53Q	ENSP00000292427:L53Q	L	-	2	0	CYP11B1	143958074	0.994000	0.37717	0.311000	0.25182	0.893000	0.52053	1.845000	0.39279	0.317000	0.23160	0.254000	0.18369	CTG		0.637	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143961072	A	T	143961072	3	4	100	1	0	0	0	0	1	0	0	0	4145	188	7	5	1389	5	CYP11B1	8	143961072	Missense_Mutation	SNP	A	TCGA-13-0893-01B-01W-0494-09	18971294	143961072	2402950	40	5347											
C9orf46	55848	genome.wustl.edu	37	9	5361832	5361832	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr9:5361832C>G	ENST00000223864.2	-	4	359	c.138G>C	c.(136-138)caG>caC	p.Q46H	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	46				Q -> R (in Ref. 2; AAF67643). {ECO:0000305}.	chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)		p.Q46H(1)									ACCACGCAATCTGCATGGCCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	9											105	100	102					9																	5361832		2203	4300	6503	5351832	SO:0001583	missense	55848			AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"uncharacterized hematopoietic stem/progenitor cells protein MDS030", "plasminogen receptor with a C-terminal lysine"		"chromosome 9 open reading frame 46"	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.138G>C	9.37:g.5361832C>G	ENSP00000223864:p.Gln46His		5351832	B2R6W0|Q9NZ44	Missense_Mutation	SNP	ENST00000223864.2	37	CCDS6463.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018052	0.54576	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.38	1.54	0.23209	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.86573	2.825	0.51233	D	0.999912	D	0.89917	1.0	D	0.77004	0.989	T	0.77310	-0.2635	9	0.72032	D	0.01	.	9.7155	0.40272	0.0:0.7173:0.0:0.2827	.	46	Q9HBL7	CI046_HUMAN	H	46	.	ENSP00000223864:Q46H	Q	-	3	2	C9orf46	5351832	1.000000	0.71417	0.986000	0.45419	0.605000	0.37080	1.703000	0.37846	0.020000	0.15106	-0.140000	0.14226	CAG		0.398	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465		G	5361832	C	G	5361832	3	3	100	1	0	0	0	0	1	0	0	0	2484	912	32	3	317	3	C9orf46	9	5361832	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09		5361832	135851599	41	5348											
MPDZ	8777	genome.wustl.edu	37	9	13119558	13119558	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr9:13119558C>G	ENST00000319217.7	-	39	5569	c.5322G>C	c.(5320-5322)atG>atC	p.M1774I	MPDZ_ENST00000538841.1_Missense_Mutation_p.M633I|MPDZ_ENST00000541718.1_Missense_Mutation_p.M1774I|MPDZ_ENST00000447879.1_Missense_Mutation_p.M1741I|MPDZ_ENST00000546205.1_Missense_Mutation_p.M1788I|MPDZ_ENST00000381022.2_Missense_Mutation_p.M1774I|MPDZ_ENST00000536827.1_Missense_Mutation_p.M1741I|MPDZ_ENST00000541093.1_Missense_Mutation_p.M8I|MPDZ_ENST00000381015.4_Missense_Mutation_p.M1774I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1774	PDZ 11. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.M1774I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCCCATTCACCATTAATATCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	9											155	152	153					9																	13119558		1904	4136	6040	13109558	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5322G>C	9.37:g.13119558C>G	ENSP00000320006:p.Met1774Ile		13109558	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	11.55	1.672799	0.29693	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;1.69;1.69;0.99;1.69;0.99;0.99;1.69;0.99;0.99;0.99	6.03	4.16	0.48862	PDZ/DHR/GLGF (4);	0.339838	0.25138	N	0.032848	T	0.36413	0.0966	L	0.46157	1.445	0.36739	D	0.882119	B;B;B;B;B;B;B;B	0.22080	0.064;0.005;0.04;0.052;0.064;0.052;0.04;0.011	B;B;B;B;B;B;B;B	0.29440	0.077;0.063;0.102;0.046;0.077;0.075;0.063;0.063	T	0.33317	-0.9873	10	0.44086	T	0.13	.	8.1336	0.31041	0.1302:0.7264:0.0:0.1435	.	1741;633;479;1741;1654;1774;1774;467	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	I	1774;1774;1774;315;8;710;633;1741;1741;1774;1654;1788	ENSP00000320006:M1774I;ENSP00000439807:M1774I;ENSP00000370410:M1774I;ENSP00000415964:M315I;ENSP00000445259:M8I;ENSP00000444230:M710I;ENSP00000444717:M633I;ENSP00000444151:M1741I;ENSP00000415208:M1741I;ENSP00000370403:M1774I;ENSP00000446358:M1788I	ENSP00000320006:M1774I	M	-	3	0	MPDZ	13109558	0.443000	0.25641	0.775000	0.31657	0.365000	0.29674	-0.210000	0.09345	0.849000	0.35215	0.655000	0.94253	ATG		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		G	13119558	C	G	13119558	3	3	100	1	0	0	0	0	1	0	0	0	9722	594	21	3	835	3	MPDZ	9	13119558	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	7757726	13119558	128093873	42	5349											
TESK1	7016	genome.wustl.edu	37	9	35606922	35606922	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr9:35606922C>G	ENST00000336395.5	+	4	729	c.479C>G	c.(478-480)gCc>gGc	p.A160G	TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.A160G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGACATTGCCCGAGGCCTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	9											43	39	40					9																	35606922		2203	4300	6503	35596922	SO:0001583	missense	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.479C>G	9.37:g.35606922C>G	ENSP00000338127:p.Ala160Gly		35596922	Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745738	0.89663	.	.	ENSG00000107140	ENST00000336395	T	0.41758	0.99	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44688	D	0.000425	T	0.70928	0.3280	M	0.88450	2.955	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.77270	-0.2650	10	0.87932	D	0	-12.4027	18.1312	0.89602	0.0:1.0:0.0:0.0	.	160	Q15569	TESK1_HUMAN	G	160	ENSP00000338127:A160G	ENSP00000338127:A160G	A	+	2	0	TESK1	35596922	1.000000	0.71417	0.997000	0.53966	0.515000	0.34225	7.811000	0.86092	2.509000	0.84616	0.561000	0.74099	GCC		0.587	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		G	35606922	C	G	35606922	3	3	100	1	0	0	0	0	1	0	0	0	15767	739	26	3	493	3	TESK1	9	35606922	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	22487364	35606922	105606509	43	5350											
PCSK5	5125	genome.wustl.edu	37	9	78804077	78804077	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr9:78804077G>T	ENST00000545128.1	+	19	2986	c.2448G>T	c.(2446-2448)caG>caT	p.Q816H	PCSK5_ENST00000376752.4_Missense_Mutation_p.Q816H	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	816	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.Q816H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GATGCGTGCAGAGCTGTAGTA	0.478																																																1	Substitution - Missense(1)	ovary(1)	9											128	108	115					9																	78804077		2203	4300	6503	77993897	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2448G>T	9.37:g.78804077G>T	ENSP00000446280:p.Gln816His		77993897	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794715	0.31777	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854;ENST00000455778	T;T;T;T	0.53423	0.62;1.53;1.47;0.93	5.7	2.81	0.32909	Growth factor, receptor (1);	0.211970	0.51477	D	0.000096	T	0.38321	0.1036	M	0.63169	1.94	0.28309	N	0.922742	P;B	0.39624	0.681;0.004	B;B	0.34779	0.189;0.012	T	0.30707	-0.9969	10	0.42905	T	0.14	-12.0223	6.4338	0.21811	0.1942:0.2472:0.5586:0.0	.	816;816	Q92824;Q92824-2	PCSK5_HUMAN;.	H	816;519;816;489;35	ENSP00000446280:Q816H;ENSP00000365943:Q816H;ENSP00000411654:Q489H;ENSP00000407239:Q35H	ENSP00000365943:Q816H	Q	+	3	2	PCSK5	77993897	0.997000	0.39634	0.997000	0.53966	0.994000	0.84299	0.639000	0.24690	0.327000	0.23409	0.561000	0.74099	CAG		0.478	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	78804077	G	T	78804077	3	4	100	1	0	0	0	0	1	0	0	0	11603	933	33	3	2522	3	PCSK5	9	78804077	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	43197155	78804077	62409354	44	5351											
RNF20	56254	genome.wustl.edu	37	9	104313974	104313974	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr9:104313974G>C	ENST00000389120.3	+	11	1371	c.1281G>C	c.(1279-1281)gaG>gaC	p.E427D	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	427					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E427D(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGCGAGATGAGGTTAGTCTTC	0.358																																																1	Substitution - Missense(1)	ovary(1)	9											82	80	81					9																	104313974		2203	4300	6503	103353795	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1281G>C	9.37:g.104313974G>C	ENSP00000373772:p.Glu427Asp		103353795	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448402	0.43429	.	.	ENSG00000155827	ENST00000389120	T	0.46451	0.87	6.16	-0.779	0.10973	.	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	M	0.80982	2.52	0.58432	D	0.999995	D	0.58970	0.984	D	0.68192	0.956	T	0.58470	-0.7631	10	0.26408	T	0.33	-27.9843	12.1773	0.54192	0.5609:0.0:0.4391:0.0	.	427	Q5VTR2	BRE1A_HUMAN	D	427	ENSP00000373772:E427D	ENSP00000373772:E427D	E	+	3	2	RNF20	103353795	0.991000	0.36638	0.996000	0.52242	0.976000	0.68499	0.236000	0.17967	-0.050000	0.13356	-0.781000	0.03364	GAG		0.358	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		C	104313974	G	C	104313974	3	2	100	1	0	0	0	0	1	0	0	0	13476	991	35	3	1319	3	RNF20	9	104313974	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	25509897	104313974	36899457	45	5352											
OR1L6	392390	genome.wustl.edu	37	9	125512888	125512888	+	Silent	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr9:125512888G>A	ENST00000373684.1	+	1	870	c.870G>A	c.(868-870)ggG>ggA	p.G290G	OR1L6_ENST00000304720.2_Silent_p.G254G			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G290G(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TTTTCTATGGGAGTATTATTT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	9											109	92	98					9																	125512888		2203	4300	6503	124552709	SO:0001819	synonymous_variant	392390				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"GPCR / Class A : Olfactory receptors"	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.870G>A	9.37:g.125512888G>A			124552709	Q6IFM8|Q96R80	Silent	SNP	ENST00000373684.1	37																																																																																					0.512	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				A	125512888	G	A	125512888	2	1	100	1	0	0	0	0	0	0	0	1	10966	1161	41	2		2	OR1L6	9	125512888	Silent	SNP	G	TCGA-13-0893-01B-01W-0494-09	21198914	125512888	15700543	46	5353											
C10orf113	387638	genome.wustl.edu	37	10	21414974	21414974	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr10:21414974T>A	ENST00000534331.1	-	2	296	c.246A>T	c.(244-246)caA>caT	p.Q82H	C10orf113_ENST00000529198.1_3'UTR|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.Q72H	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	82								p.Q72H(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTGGCCAGCTTTGCAGCCTTC	0.607																																																2	Substitution - Missense(2)	ovary(2)	10											58	61	60					10																	21414974		2203	4300	6503	21454980	SO:0001583	missense	387638				CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.246A>T	10.37:g.21414974T>A	ENSP00000433646:p.Gln82His		21454980	B9EIM9|E9PRX7	Missense_Mutation	SNP	ENST00000534331.1	37	CCDS31162.2	.	.	.	.	.	.	.	.	.	.	T	4.703	0.130778	0.08981	.	.	ENSG00000204683	ENST00000534331;ENST00000377118	T;T	0.37058	1.22;1.22	4.66	-2.05	0.07321	.	.	.	.	.	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.22347	-1.0219	9	0.87932	D	0	1.9108	4.6323	0.12507	0.2022:0.4585:0.0:0.3394	.	82	Q5VZT2	CJ113_HUMAN	H	82;72	ENSP00000433646:Q82H;ENSP00000366322:Q72H	ENSP00000366322:Q72H	Q	-	3	2	C10orf113	21454980	0.815000	0.29118	0.030000	0.17652	0.171000	0.22731	0.153000	0.16323	-0.247000	0.09597	-0.467000	0.05162	CAA		0.607	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896		A	21414974	T	A	21414974	3	1	100	1	0	0	0	0	1	0	0	0	1584	1838	64	5	225	5	C10orf113	10	21414974	Missense_Mutation	SNP	T	TCGA-13-0893-01B-01W-0494-09		21414974	114119773	47	5354											
CUL2	8453	genome.wustl.edu	37	10	35328011	35328011	+	Splice_Site	SNP	C	C	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr10:35328011C>T	ENST00000374748.1	-	10	1028		c.e10-1		CUL2_ENST00000374749.3_Splice_Site|CUL2_ENST00000537177.1_Splice_Site|CUL2_ENST00000374751.3_Splice_Site|CUL2_ENST00000602371.1_Splice_Site|CUL2_ENST00000374742.1_Splice_Site|CUL2_ENST00000374746.1_Splice_Site			Q13617	CUL2_HUMAN	cullin 2						cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.?(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TACCTAGAACCTATAAAAATA	0.308																																																1	Unknown(1)	ovary(1)	10											57	54	55					10																	35328011		2203	4293	6496	35368017	SO:0001630	splice_region_variant	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.715-1G>A	10.37:g.35328011C>T			35368017	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Splice_Site	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067361	0.55539	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6183	0.95645	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL2	35368017	1.000000	0.71417	0.997000	0.53966	0.386000	0.30323	7.818000	0.86416	2.707000	0.92482	0.557000	0.71058	.		0.308	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591	Intron	T	35328011	C	T	35328011	5	4	100	1	0	0	0	0	0	0	1	0	4055	695	24	2	1575	2	CUL2	10	35328011	Splice_Site	SNP	C	TCGA-13-0893-01B-01W-0494-09	13913037	35328011	100206736	48	5355											
ANKRD30A	91074	genome.wustl.edu	37	10	37430803	37430803	+	Missense_Mutation	SNP	T	T	G	rs372199195		TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr10:37430803T>G	ENST00000602533.1	+	7	909	c.810T>G	c.(808-810)gaT>gaG	p.D270E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D270E|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D270E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	326					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D270E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAACACCTGATGAGGCTGCAT	0.478																																																1	Substitution - Missense(1)	ovary(1)	10											61	63	62					10																	37430803		1879	4120	5999	37470809	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.810T>G	10.37:g.37430803T>G	ENSP00000473551:p.Asp270Glu		37470809	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	4.764	0.142081	0.09083	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.04454	3.62;3.62	0.609	-1.22	0.09494	.	.	.	.	.	T	0.04363	0.0120	L	0.46157	1.445	0.09310	N	1	P	0.38711	0.643	B	0.43360	0.417	T	0.29701	-1.0003	8	0.02654	T	1	.	.	.	.	.	326	Q9BXX3	AN30A_HUMAN	E	270	ENSP00000354432:D270E;ENSP00000363792:D270E	ENSP00000354432:D270E	D	+	3	2	ANKRD30A	37470809	0.122000	0.22280	0.004000	0.12327	0.004000	0.04260	-3.842000	0.00353	-1.148000	0.02847	-1.550000	0.00899	GAT		0.478	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37430803	T	G	37430803	3	3	100	1	0	0	0	0	1	0	0	0	658	1461	51	5	836	5	ANKRD30A	10	37430803	Missense_Mutation	SNP	T	TCGA-13-0893-01B-01W-0494-09	2102792	37430803	98103944	49	5356											
TRIM21	6737	genome.wustl.edu	37	11	4409691	4409691	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr11:4409691C>G	ENST00000254436.7	-	4	686	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	TRIM21_ENST00000543625.1_Missense_Mutation_p.E192Q	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	192					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E192Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTCTGTTCTTCTTCAACCAGG	0.517																																																1	Substitution - Missense(1)	ovary(1)	11											203	204	204					11																	4409691		1956	4180	6136	4366267	SO:0001583	missense	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.574G>C	11.37:g.4409691C>G	ENSP00000254436:p.Glu192Gln		4366267	Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280609	0.59758	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.09538	2.97;2.97	4.2	4.2	0.49525	.	0.000000	0.50627	D	0.000102	T	0.32585	0.0834	M	0.85630	2.765	0.28348	N	0.921034	D	0.76494	0.999	D	0.63488	0.915	T	0.11591	-1.0581	10	0.66056	D	0.02	.	12.3522	0.55155	0.0:1.0:0.0:0.0	.	192	P19474	RO52_HUMAN	Q	192	ENSP00000254436:E192Q;ENSP00000444045:E192Q	ENSP00000254436:E192Q	E	-	1	0	TRIM21	4366267	0.984000	0.35163	0.979000	0.43373	0.502000	0.33828	2.627000	0.46469	2.612000	0.88384	0.655000	0.94253	GAA		0.517	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		G	4409691	C	G	4409691	3	3	100	1	0	0	0	0	1	0	0	0	16495	922	32	3	869	3	TRIM21	11	4409691	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09		4409691	130596825	50	5357											
UBQLN3	50613	genome.wustl.edu	37	11	5530137	5530137	+	Missense_Mutation	SNP	G	G	A	rs201719446		TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr11:5530137G>A	ENST00000311659.4	-	2	799	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	218								p.R218W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGTCTGCCGCATAATTTCC	0.517																																					Ovarian(72;684 1260 12332 41642 52180)											1	Substitution - Missense(1)	ovary(1)	11											93	91	92					11																	5530137		2201	4297	6498	5486713	SO:0001583	missense	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.652C>T	11.37:g.5530137G>A	ENSP00000347997:p.Arg218Trp		5486713	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.19	2.760103	0.49468	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.67523	0.51;-0.27	5.53	3.61	0.41365	Heat shock chaperonin-binding (1);	0.000000	0.42053	D	0.000768	T	0.71651	0.3365	M	0.78223	2.4	0.48452	D	0.999653	P	0.52316	0.952	P	0.48304	0.573	T	0.75127	-0.3427	10	0.87932	D	0	-34.2063	11.9374	0.52880	0.0:0.0:0.5418:0.4582	.	218	Q9H347	UBQL3_HUMAN	W	218	ENSP00000347997:R218W;ENSP00000412561:R218W	ENSP00000347997:R218W	R	-	1	2	UBQLN3	5486713	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	0.881000	0.28173	0.761000	0.33130	-0.282000	0.10007	CGG		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		A	5530137	G	A	5530137	3	1	100	1	0	0	0	0	1	0	0	0	16898	1086	38	1	1319	1	UBQLN3	11	5530137	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	1120446	5530137	129476379	51	5358											
NARS2	79731	genome.wustl.edu	37	11	78277280	78277280	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr11:78277280C>G	ENST00000281038.5	-	4	786	c.411G>C	c.(409-411)gaG>gaC	p.E137D	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	137					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.E137D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GTCGCAGATACTCCAGAGGAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	11											84	82	83					11																	78277280		2200	4291	6491	77954928	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.411G>C	11.37:g.78277280C>G	ENSP00000281038:p.Glu137Asp		77954928	G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463408	0.43736	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	D;T	0.85955	-2.05;0.74	5.13	-2.27	0.06846	Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.050939	0.85682	D	0.000000	T	0.75243	0.3823	L	0.37800	1.135	0.80722	D	1	P	0.35628	0.513	B	0.35510	0.204	T	0.68205	-0.5470	10	0.72032	D	0.01	-16.3883	10.8438	0.46730	0.0:0.3508:0.0:0.6492	.	137	Q96I59	SYNM_HUMAN	D	137	ENSP00000281038:E137D;ENSP00000432240:E137D	ENSP00000281038:E137D	E	-	3	2	NARS2	77954928	0.945000	0.32115	0.661000	0.29709	0.356000	0.29392	0.014000	0.13333	-0.253000	0.09514	-0.136000	0.14681	GAG		0.368	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		G	78277280	C	G	78277280	3	3	100	1	0	0	0	0	1	0	0	0	10171	564	20	3	1066	3	NARS2	11	78277280	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	72747143	78277280	56729236	52	5359											
OR8B3	390271	genome.wustl.edu	37	11	124266883	124266883	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr11:124266883C>T	ENST00000354597.3	-	1	381	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGCCACATAGCGATCATATGC	0.408																																																1	Substitution - Missense(1)	ovary(1)	11											74	63	67					11																	124266883		2201	4299	6500	123772093	SO:0001583	missense	390271			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.365G>A	11.37:g.124266883C>T	ENSP00000346611:p.Arg122His		123772093	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	14.29	2.490020	0.44249	.	.	ENSG00000196661	ENST00000354597	T	0.77489	-1.1	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.103551	0.43919	D	0.000518	T	0.79610	0.4475	M	0.84683	2.71	0.47276	D	0.999371	P	0.46277	0.875	B	0.39904	0.313	D	0.86071	0.1538	10	0.87932	D	0	.	15.8757	0.79159	0.0:1.0:0.0:0.0	.	122	Q8NGG8	OR8B3_HUMAN	H	122	ENSP00000346611:R122H	ENSP00000346611:R122H	R	-	2	0	OR8B3	123772093	0.674000	0.27549	1.000000	0.80357	0.194000	0.23727	5.429000	0.66495	2.237000	0.73441	0.637000	0.83480	CGC		0.408	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		T	124266883	C	T	124266883	3	4	100	1	0	0	0	0	1	0	0	0	11228	768	27	1	578	1	OR8B3	11	124266883	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	45989603	124266883	10739633	53	5360											
NTM	50863	genome.wustl.edu	37	11	132184608	132184608	+	Intron	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr11:132184608G>T	ENST00000374786.1	+	6	1413				NTM_ENST00000425719.2_Intron|NTM_ENST00000374784.1_Silent_p.V315V|NTM_ENST00000539799.1_Intron|NTM_ENST00000374791.3_Intron|NTM_ENST00000427481.2_Intron|NTM_ENST00000474900.1_Intron	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTGAGACTGTGCTCTGAGCTG	0.562																																																0			11											63	55	58					11																	132184608		2201	4297	6498	131689818	SO:0001627	intron_variant	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.934+11G>T	11.37:g.132184608G>T			131689818	A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	CCDS8491.1																																																																																				0.562	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		T	132184608	G	T	132184608	1	4	100	0	1	0	0	0	0	0	0	0	10699	1306	46	3		3	NTM	11	132184608	Intron	SNP	G	TCGA-13-0893-01B-01W-0494-09	7917725	132184608	2821908	54	5361											
TIMELESS	8914	genome.wustl.edu	37	12	56827333	56827333	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr12:56827333C>G	ENST00000553532.1	-	4	505	c.355G>C	c.(355-357)Gcc>Ccc	p.A119P	TIMELESS_ENST00000554616.1_Missense_Mutation_p.A119P|TIMELESS_ENST00000229201.4_Missense_Mutation_p.A119P					timeless circadian clock									p.A119P(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCTTTGTAGGCCTGCAAATAA	0.483																																																1	Substitution - Missense(1)	ovary(1)	12											106	111	109					12																	56827333		2203	4300	6503	55113600	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.355G>C	12.37:g.56827333C>G	ENSP00000450607:p.Ala119Pro		55113600		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862432	0.91511	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.66460	0.89;0.89;-0.21	5.42	5.42	0.78866	Timeless protein (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.81243	-0.1021	10	0.62326	D	0.03	-13.2387	18.3784	0.90442	0.0:1.0:0.0:0.0	.	119;119	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	P	119	ENSP00000229201:A119P;ENSP00000450607:A119P;ENSP00000450848:A119P	ENSP00000229201:A119P	A	-	1	0	TIMELESS	55113600	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.906000	0.56340	2.712000	0.92718	0.650000	0.86243	GCC		0.483	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		G	56827333	C	G	56827333	3	3	100	1	0	0	0	0	1	0	0	0	15904	739	26	3	3375	3	TIMELESS	12	56827333	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09		56827333	77024562	55	5362											
ARPC3	10094	genome.wustl.edu	37	12	110878193	110878193	+	Splice_Site	SNP	G	G	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr12:110878193G>T	ENST00000228825.7	-	3	253	c.107C>A	c.(106-108)aCa>aAa	p.T36K	ARPC3_ENST00000471641.1_5'Flank|RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	36					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.T36K(1)		lung(1)|ovary(1)	2						TGTATCTTTTGCTAAGCAGGA	0.348																																																1	Substitution - Missense(1)	ovary(1)	12											65	63	63					12																	110878193		2203	4300	6503	109362576	SO:0001630	splice_region_variant	10094			AF006086	CCDS9146.1	12q24	2011-07-06	2002-08-29		ENSG00000111229	ENSG00000111229		"Actin related protein 2/3 complex subunits"	706	protein-coding gene	gene with protein product		604225	"actin related protein 2/3 complex, subunit 3 (21 kD)"			9230079, 9359840	Standard	NM_001278556		Approved	p21-Arc, ARC21	uc001tqq.3	O15145	OTTHUMG00000134333	ENST00000228825.7:c.107-1C>A	12.37:g.110878193G>T			109362576	O00554	Missense_Mutation	SNP	ENST00000228825.7	37	CCDS9146.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809815	0.31961	.	.	ENSG00000111229	ENST00000228825;ENST00000392683;ENST00000426440;ENST00000547365	.	.	.	5.99	5.99	0.97316	.	0.096084	0.64402	D	0.000001	T	0.67534	0.2903	L	0.59436	1.845	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.62950	-0.6745	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	36	O15145	ARPC3_HUMAN	K	36;36;36;28	.	ENSP00000228825:T36K	T	-	2	0	ARPC3	109362576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.882000	0.75589	2.840000	0.97914	0.655000	0.94253	ACA		0.348	ARPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259487.2		Missense_Mutation	T	110878193	G	T	110878193	5	4	100	1	0	0	0	0	0	0	1	0	972	1333	46	3	449	3	ARPC3	12	110878193	Splice_Site	SNP	G	TCGA-13-0893-01B-01W-0494-09	54050860	110878193	22973702	56	5363											
FREM2	341640	genome.wustl.edu	37	13	39264383	39264383	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr13:39264383G>A	ENST00000280481.7	+	1	3118	c.2902G>A	c.(2902-2904)Gtt>Att	p.V968I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	968					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V968I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACTGCCAATGTTATTAAGGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	13											80	83	82					13																	39264383		2203	4300	6503	38162383	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2902G>A	13.37:g.39264383G>A	ENSP00000280481:p.Val968Ile		38162383	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.693088	0.00731	.	.	ENSG00000150893	ENST00000280481	T	0.26223	1.75	5.59	0.576	0.17380	.	0.310908	0.34245	N	0.004127	T	0.16085	0.0387	L	0.41027	1.25	0.38726	D	0.953561	B	0.09022	0.002	B	0.12837	0.008	T	0.15009	-1.0452	10	0.20519	T	0.43	.	5.8465	0.18669	0.3929:0.125:0.4821:0.0	.	968	Q5SZK8	FREM2_HUMAN	I	968	ENSP00000280481:V968I	ENSP00000280481:V968I	V	+	1	0	FREM2	38162383	0.972000	0.33761	0.257000	0.24404	0.061000	0.15899	1.718000	0.38001	-0.221000	0.09973	-0.150000	0.13652	GTT		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39264383	G	A	39264383	3	1	100	1	0	0	0	0	1	0	0	0	6045	1377	48	2	2904	2	FREM2	13	39264383	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09		39264383	75905495	57	5364											
PARP2	10038	genome.wustl.edu	37	14	20820412	20820412	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr14:20820412A>C	ENST00000250416.5	+	7	572	c.545A>C	c.(544-546)gAc>gCc	p.D182A	PARP2_ENST00000429687.3_Missense_Mutation_p.D169A|PARP2_ENST00000527915.1_Missense_Mutation_p.D182A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	182					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D133A(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGATTCCTTGACAAAACGAAA	0.353								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								1	Substitution - Missense(1)	ovary(1)	14											101	90	93					14																	20820412		1828	4088	5916	19890252	SO:0001583	missense	10038			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.545A>C	14.37:g.20820412A>C	ENSP00000250416:p.Asp182Ala		19890252	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672421	0.47781	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.16324	2.35;2.35;2.35	5.53	5.53	0.82687	WGR domain (4);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71870	0.921;0.975	T	0.30179	-0.9987	10	0.54805	T	0.06	-22.8827	14.635	0.68682	1.0:0.0:0.0:0.0	.	169;182	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	A	169;182;182	ENSP00000392972:D169A;ENSP00000250416:D182A;ENSP00000432283:D182A	ENSP00000250416:D182A	D	+	2	0	PARP2	19890252	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.600000	0.82769	2.106000	0.64143	0.460000	0.39030	GAC		0.353	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			C	20820412	A	C	20820412	3	2	100	1	0	0	0	0	1	0	0	0	11461	275	10	5	571	5	PARP2	14	20820412	Missense_Mutation	SNP	A	TCGA-13-0893-01B-01W-0494-09		20820412	86529128	58	5365											
ZNF280D	54816	genome.wustl.edu	37	15	56970892	56970892	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr15:56970892C>T	ENST00000267807.7	-	11	1348	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	ZNF280D_ENST00000559000.1_Missense_Mutation_p.E365K|ZNF280D_ENST00000559237.1_Missense_Mutation_p.E365K|ZNF280D_ENST00000396245.1_Missense_Mutation_p.E82K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E378K(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGTGTACTTTCGATGTGACAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	15											212	177	189					15																	56970892		2192	4292	6484	54758184	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1132G>A	15.37:g.56970892C>T	ENSP00000267807:p.Glu378Lys		54758184	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020978	0.93462	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435;ENST00000396245	T;T	0.03358	3.96;4.45	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	2.773010	0.01749	N	0.029839	T	0.18425	0.0442	L	0.41632	1.29	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00651	-1.1626	10	0.87932	D	0	-21.1864	18.0841	0.89452	0.0:1.0:0.0:0.0	.	441;378	B4DHL1;Q6N043	.;Z280D_HUMAN	K	378;365;214;82	ENSP00000267807:E378K;ENSP00000379545:E82K	ENSP00000260435:E214K	E	-	1	0	ZNF280D	54758184	1.000000	0.71417	0.971000	0.41717	0.868000	0.49771	7.474000	0.81024	2.514000	0.84764	0.557000	0.71058	GAA		0.398	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		T	56970892	C	T	56970892	3	4	100	1	0	0	0	0	1	0	0	0	17817	893	31	1	1855	1	ZNF280D	15	56970892	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09		56970892	45560500	59	5366											
VPS13C	54832	genome.wustl.edu	37	15	62261606	62261606	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr15:62261606G>C	ENST00000261517.5	-	28	2876	c.2803C>G	c.(2803-2805)Cta>Gta	p.L935V	VPS13C_ENST00000249837.3_Missense_Mutation_p.L892V|VPS13C_ENST00000395896.4_Missense_Mutation_p.L935V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L892V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.L935V(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAAATACTAGAATTGTATCT	0.299																																																1	Substitution - Missense(1)	ovary(1)	15											63	60	61					15																	62261606		2195	4281	6476	60048898	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2803C>G	15.37:g.62261606G>C	ENSP00000261517:p.Leu935Val		60048898		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408511	0.42715	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16897	2.31;2.31;2.31	5.05	4.1	0.47936	.	0.102350	0.40064	N	0.001185	T	0.33294	0.0858	L	0.46947	1.48	0.49915	D	0.999837	D;D;D;P	0.89917	0.999;1.0;0.992;0.887	D;D;P;P	0.83275	0.959;0.996;0.89;0.684	T	0.02404	-1.1164	10	0.46703	T	0.11	.	12.9392	0.58333	0.0824:0.0:0.9176:0.0	.	892;935;892;935	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	892;935;935;935	ENSP00000249837:L892V;ENSP00000261517:L935V;ENSP00000379233:L935V	ENSP00000249837:L892V	L	-	1	2	VPS13C	60048898	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	1.975000	0.40569	1.196000	0.43129	0.561000	0.74099	CTA		0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62261606	G	C	62261606	3	2	100	1	0	0	0	0	1	0	0	0	17191	933	33	3	8718	3	VPS13C	15	62261606	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	5290714	62261606	40269786	60	5367											
ADAMTSL3	57188	genome.wustl.edu	37	15	84488784	84488784	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr15:84488784C>G	ENST00000286744.5	+	6	809	c.585C>G	c.(583-585)atC>atG	p.I195M	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.I195M	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	195						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I195M(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACATGTGTATCAGTGGCATCT	0.488																																																1	Substitution - Missense(1)	ovary(1)	15											143	113	123					15																	84488784		2203	4300	6503	82279788	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.585C>G	15.37:g.84488784C>G	ENSP00000286744:p.Ile195Met		82279788	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702449	0.68501	.	.	ENSG00000156218	ENST00000286744	T	0.03553	3.89	5.6	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	M	0.87381	2.88	0.43930	D	0.996586	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.00666	-1.1619	10	0.87932	D	0	.	10.1072	0.42541	0.1282:0.7499:0.0:0.1218	.	195;195	P82987-2;P82987	.;ATL3_HUMAN	M	195	ENSP00000286744:I195M	ENSP00000286744:I195M	I	+	3	3	ADAMTSL3	82279788	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	2.366000	0.44204	1.292000	0.44672	0.655000	0.94253	ATC		0.488	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		G	84488784	C	G	84488784	3	3	100	1	0	0	0	0	1	0	0	0	276	816	29	3	603	3	ADAMTSL3	15	84488784	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	22227178	84488784	18042608	61	5368											
C16orf45	89927	genome.wustl.edu	37	16	15609245	15609255	+	Frame_Shift_Del	DEL	CGGGAAGTCTT	CGGGAAGTCTT	-			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	CGGGAAGTCTT	CGGGAAGTCTT	CGGGAAGTCTT	-	CGGGAAGTCTT	CGGGAAGTCTT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr16:15609245_15609255delCGGGAAGTCTT	ENST00000300006.4	+	2	549_559	c.190_200delCGGGAAGTCTT	c.(190-201)cgggaagtcttgfs	p.REVL64fs	C16orf45_ENST00000452191.2_Frame_Shift_Del_p.REVL47fs|C16orf45_ENST00000561692.1_Frame_Shift_Del_p.REVL16fs|C16orf45_ENST00000566490.1_Frame_Shift_Del_p.REVL64fs	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	64								p.R64fs*6(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCAGCGTCTCCGGGAAGTCTTGGTCCGCCGG	0.512																																																1	Deletion - Frameshift(1)	ovary(1)	16																																								15516756	SO:0001589	frameshift_variant	89927			AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.190_200delCGGGAAGTCTT	16.37:g.15609245_15609255delCGGGAAGTCTT	ENSP00000300006:p.Arg64fs		15516746	O00223|O75769|Q8IZ36|Q96H25	Frame_Shift_Del	DEL	ENST00000300006.4	37	CCDS10561.1																																																																																				0.512	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		-	15609255	CGGGAAGTCTT	-	15609245	7	5	100	1	0	1	0	1	0	0	0	0	1814	643	23	0	255	0	C16orf45	16	15609245	Frame_Shift_Del	DEL	CGGGAAGTCTT	TCGA-13-0893-01B-01W-0494-09		15609245	74745508	62	5369											
ATXN2L	11273	genome.wustl.edu	37	16	28845928	28845928	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr16:28845928C>G	ENST00000336783.4	+	18	2514	c.2347C>G	c.(2347-2349)Ccc>Gcc	p.P783A	ATXN2L_ENST00000340394.8_Missense_Mutation_p.P783A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P783A|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P789A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P783A|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P783A|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P783A|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	783					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.P783A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGCTGCCACGCCCTATTCTTC	0.677																																																1	Substitution - Missense(1)	ovary(1)	16											61	72	69					16																	28845928		2196	4298	6494	28753429	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2347C>G	16.37:g.28845928C>G	ENSP00000338718:p.Pro783Ala		28753429	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	17.39	3.377142	0.61735	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.55234	0.55;0.63;0.65;0.54;0.53	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.52403	0.1732	L	0.54323	1.7	0.36198	D	0.850568	B;B;B;B;B;B;B	0.20988	0.05;0.03;0.03;0.05;0.05;0.03;0.05	B;B;B;B;B;B;B	0.22880	0.042;0.019;0.019;0.042;0.042;0.019;0.042	T	0.57883	-0.7734	10	0.52906	T	0.07	-10.4845	18.0694	0.89400	0.0:1.0:0.0:0.0	.	783;783;783;783;783;783;783	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	A	783	ENSP00000341459:P783A;ENSP00000378917:P783A;ENSP00000338718:P783A;ENSP00000372133:P783A;ENSP00000315650:P783A	ENSP00000315650:P783A	P	+	1	0	ATXN2L	28753429	0.994000	0.37717	0.968000	0.41197	0.928000	0.56348	3.844000	0.55873	2.552000	0.86080	0.563000	0.77884	CCC		0.677	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		G	28845928	C	G	28845928	3	3	100	1	0	0	0	0	1	0	0	0	1212	739	26	3	2417	3	ATXN2L	16	28845928	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09	13236683	28845928	61508825	63	5370											
MYH13	8735	genome.wustl.edu	37	17	10267759	10267759	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr17:10267759C>G	ENST00000418404.3	-	2	252	c.89G>C	c.(88-90)cGt>cCt	p.R30P	MYH13_ENST00000252172.4_Missense_Mutation_p.R30P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	30					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R30P(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCGAATGGACGATTTTGAGC	0.463																																																1	Substitution - Missense(1)	ovary(1)	17											121	113	115					17																	10267759		1924	4139	6063	10208484	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.89G>C	17.37:g.10267759C>G	ENSP00000404570:p.Arg30Pro		10208484	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829953	0.32329	.	.	ENSG00000006788	ENST00000252172	D	0.86030	-2.06	4.69	3.71	0.42584	.	.	.	.	.	D	0.86343	0.5910	L	0.46885	1.475	0.21499	N	0.999661	B	0.33073	0.396	P	0.45610	0.487	T	0.79293	-0.1863	9	0.46703	T	0.11	.	14.6872	0.69057	0.146:0.854:0.0:0.0	.	30	Q9UKX3	MYH13_HUMAN	P	30	ENSP00000252172:R30P	ENSP00000252172:R30P	R	-	2	0	MYH13	10208484	0.000000	0.05858	0.499000	0.27577	0.230000	0.25150	-0.252000	0.08806	1.322000	0.45245	0.655000	0.94253	CGT		0.463	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		G	10267759	C	G	10267759	3	3	100	1	0	0	0	0	1	0	0	0	10032	536	19	3	5883	3	MYH13	17	10267759	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09		10267759	70927451	64	5371											
PRKCA	5578	genome.wustl.edu	37	17	64641582	64641582	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr17:64641582G>A	ENST00000413366.3	+	5	508	c.482G>A	c.(481-483)cGg>cAg	p.R161Q		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	161					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.R161Q(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AAGAGGGGGCGGATTTACCTA	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											154	137	143					17																	64641582		2203	4300	6503	62072044	SO:0001583	missense	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.482G>A	17.37:g.64641582G>A	ENSP00000408695:p.Arg161Gln		62072044	B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.702229	0.96812	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.39406	1.08	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.66228	0.2768	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65443	0.935;0.933	T	0.65467	-0.6161	10	0.48119	T	0.1	.	19.6872	0.95984	0.0:0.0:1.0:0.0	.	161;72	P17252;Q59FI5	KPCA_HUMAN;.	Q	161;68	ENSP00000408695:R161Q	ENSP00000284384:R68Q	R	+	2	0	PRKCA	62072044	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	9.164000	0.94755	2.820000	0.97059	0.650000	0.86243	CGG		0.517	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			A	64641582	G	A	64641582	3	1	100	1	0	0	0	0	1	0	0	0	12510	1116	39	1	500	1	PRKCA	17	64641582	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	54373823	64641582	16553628	65	5372											
KIAA0195	9772	genome.wustl.edu	37	17	73486828	73486828	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr17:73486828G>A	ENST00000314256.7	+	11	1511	c.1117G>A	c.(1117-1119)Gtc>Atc	p.V373I	KIAA0195_ENST00000375248.5_Missense_Mutation_p.V383I|KIAA0195_ENST00000579208.1_Missense_Mutation_p.V24I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	373						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V373I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACGGAGGCTGTCTCCTCTCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	17											94	79	84					17																	73486828		2203	4300	6503	70998423	SO:0001583	missense	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1117G>A	17.37:g.73486828G>A	ENSP00000313885:p.Val373Ile		70998423	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	9.953	1.220615	0.22457	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.46819	0.86;0.86	5.7	3.64	0.41730	.	0.125529	0.53938	D	0.000060	T	0.38268	0.1034	L	0.50333	1.59	0.48040	D	0.999578	P;B;B	0.51791	0.948;0.05;0.148	B;B;B	0.40940	0.344;0.049;0.061	T	0.11251	-1.0595	10	0.23302	T	0.38	-24.7942	10.213	0.43152	0.0771:0.1356:0.7873:0.0	.	383;383;373	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	I	373;383	ENSP00000313885:V373I;ENSP00000364397:V383I	ENSP00000313885:V373I	V	+	1	0	KIAA0195	70998423	1.000000	0.71417	0.759000	0.31340	0.016000	0.09150	5.900000	0.69853	0.693000	0.31634	-0.302000	0.09304	GTC		0.562	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		A	73486828	G	A	73486828	3	1	100	1	0	0	0	0	1	0	0	0	8160	1377	48	2	1155	2	KIAA0195	17	73486828	Missense_Mutation	SNP	G	TCGA-13-0893-01B-01W-0494-09	8845246	73486828	7708382	66	5373											
CCDC102B	79839	genome.wustl.edu	37	18	66678183	66678183	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr18:66678183C>T	ENST00000360242.5	+	7	1393	c.1276C>T	c.(1276-1278)Ctt>Ttt	p.L426F	CCDC102B_ENST00000319445.6_Missense_Mutation_p.L426F|CCDC102B_ENST00000584156.1_Missense_Mutation_p.L426F	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	426								p.L426F(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ATTACTGAACCTTCAACATGC	0.318																																																1	Substitution - Missense(1)	ovary(1)	18											63	60	61					18																	66678183		2203	4300	6503	64829163	SO:0001583	missense	79839			AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1276C>T	18.37:g.66678183C>T	ENSP00000353377:p.Leu426Phe		64829163	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	C	8.527	0.870095	0.17322	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.21734	1.99;1.99	5.4	3.54	0.40534	.	0.466449	0.18234	N	0.147474	T	0.21718	0.0523	M	0.67397	2.05	0.80722	D	1	B	0.32203	0.36	B	0.32022	0.139	T	0.02378	-1.1168	10	0.46703	T	0.11	-3.7455	6.9924	0.24763	0.0:0.729:0.172:0.0989	.	426	Q68D86	C102B_HUMAN	F	426	ENSP00000316237:L426F;ENSP00000353377:L426F	ENSP00000316237:L426F	L	+	1	0	CCDC102B	64829163	0.739000	0.28196	0.111000	0.21465	0.742000	0.42306	1.257000	0.32932	0.587000	0.29643	0.650000	0.86243	CTT		0.318	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		T	66678183	C	T	66678183	3	4	100	1	0	0	0	0	1	0	0	0	2737	681	24	2	1298	2	CCDC102B	18	66678183	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09		66678183	11399065	67	5374											
MED26	9441	genome.wustl.edu	37	19	16687873	16687873	+	Silent	SNP	C	C	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr19:16687873C>A	ENST00000263390.3	-	3	1030	c.768G>T	c.(766-768)gtG>gtT	p.V256V	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Silent_p.V264V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	256	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.V256V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GAGTCTCGTCCACCCTGTCCA	0.677																																																1	Substitution - coding silent(1)	ovary(1)	19											30	32	31					19																	16687873		2203	4300	6503	16548873	SO:0001819	synonymous_variant	9441			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.768G>T	19.37:g.16687873C>A			16548873	A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	CCDS12347.1																																																																																				0.677	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		A	16687873	C	A	16687873	2	1	100	1	0	0	0	0	0	0	0	1	9444	581	21	3		3	MED26	19	16687873	Silent	SNP	C	TCGA-13-0893-01B-01W-0494-09		16687873	42441110	68	5375											
TSHZ3	57616	genome.wustl.edu	37	19	31768044	31768044	+	Silent	SNP	C	C	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr19:31768044C>T	ENST00000240587.4	-	2	2982	c.2655G>A	c.(2653-2655)tcG>tcA	p.S885S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	885					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S702S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGCGGGCGTCGACTCCTCAG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	19											43	41	41					19																	31768044		2203	4300	6503	36459884	SO:0001819	synonymous_variant	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2655G>A	19.37:g.31768044C>T			36459884	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31768044	C	T	31768044	2	4	100	1	0	0	0	0	0	0	0	1	16625	871	31	1		1	TSHZ3	19	31768044	Silent	SNP	C	TCGA-13-0893-01B-01W-0494-09	15080171	31768044	27360939	69	5376											
NLRP12	91662	genome.wustl.edu	37	19	54313398	54313398	+	Silent	SNP	G	G	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr19:54313398G>A	ENST00000324134.6	-	3	1683	c.1515C>T	c.(1513-1515)aaC>aaT	p.N505N	NLRP12_ENST00000351894.4_Silent_p.N505N|NLRP12_ENST00000354278.3_Silent_p.N505N|NLRP12_ENST00000391772.1_Silent_p.N505N|NLRP12_ENST00000391773.1_Silent_p.N505N|NLRP12_ENST00000391775.3_Silent_p.N505N|NLRP12_ENST00000345770.5_Silent_p.N505N|NLRP12_ENST00000535162.1_Silent_p.N505N	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	505	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.N505N(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACCTCTCACAGTTGATGTCCT	0.527																																																1	Substitution - coding silent(1)	ovary(1)	19											119	120	119					19																	54313398		2203	4300	6503	59005210	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1515C>T	19.37:g.54313398G>A			59005210	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				0.527	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54313398	G	A	54313398	2	1	100	1	0	0	0	0	0	0	0	1	10474	1020	36	2		2	NLRP12	19	54313398	Silent	SNP	G	TCGA-13-0893-01B-01W-0494-09	22545354	54313398	4815585	70	5377											
ZNF549	256051	genome.wustl.edu	37	19	58049370	58049370	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr19:58049370T>A	ENST00000376233.3	+	4	1179	c.998T>A	c.(997-999)gTg>gAg	p.V333E	ZNF549_ENST00000240719.3_Missense_Mutation_p.V320E|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V320E(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCCTTATGTGTGCAATGTA	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											101	98	99					19																	58049370		2203	4300	6503	62741182	SO:0001583	missense	256051			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.998T>A	19.37:g.58049370T>A	ENSP00000365407:p.Val333Glu		62741182	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.739407	0.00681	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.14391	2.51;2.51	2.92	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	N	0.01640	-0.785	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.16289	0.015;0.002	T	0.42224	-0.9464	9	0.02654	T	1	.	0.1233	0.00066	0.3398:0.1742:0.161:0.325	.	333;320	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	E	320;333	ENSP00000240719:V320E;ENSP00000365407:V333E	ENSP00000240719:V320E	V	+	2	0	ZNF549	62741182	0.000000	0.05858	0.088000	0.20740	0.810000	0.45777	-4.361000	0.00246	0.236000	0.21180	0.477000	0.44152	GTG		0.438	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		A	58049370	T	A	58049370	3	1	100	1	0	0	0	0	1	0	0	0	17981	1696	59	5	969	5	ZNF549	19	58049370	Missense_Mutation	SNP	T	TCGA-13-0893-01B-01W-0494-09	3735972	58049370	1079613	71	5378											
TGM6	343641	genome.wustl.edu	37	20	2397927	2397927	+	Silent	SNP	C	C	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr20:2397927C>T	ENST00000202625.2	+	10	1447	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	TGM6_ENST00000381423.1_Silent_p.F462F	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	462					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.F462F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAGGCTGTTCGGCGTGGAAG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	20											34	30	31					20																	2397927		2201	4299	6500	2345927	SO:0001819	synonymous_variant	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1386C>T	20.37:g.2397927C>T			2345927	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	CCDS13025.1																																																																																				0.627	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		T	2397927	C	T	2397927	2	4	100	1	0	0	0	0	0	0	0	1	15834	883	31	1		1	TGM6	20	2397927	Silent	SNP	C	TCGA-13-0893-01B-01W-0494-09		2397927	60627593	72	5379											
FOXS1	2307	genome.wustl.edu	37	20	30432788	30432788	+	Silent	SNP	A	A	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr20:30432788A>T	ENST00000375978.3	-	1	632	c.558T>A	c.(556-558)ccT>ccA	p.P186P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	186					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P186P(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGGTGGCCGAGGCCTGCCAT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	20											48	44	46					20																	30432788		2203	4300	6503	29896449	SO:0001819	synonymous_variant	2307			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.558T>A	20.37:g.30432788A>T			29896449	Q96D28	Silent	SNP	ENST00000375978.3	37	CCDS13192.1																																																																																				0.632	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		T	30432788	A	T	30432788	2	4	100	1	0	0	0	0	0	0	0	1	6035	291	11	5		5	FOXS1	20	30432788	Silent	SNP	A	TCGA-13-0893-01B-01W-0494-09	28034861	30432788	32592732	73	5380											
BCAS1	8537	genome.wustl.edu	37	20	52612476	52612476	+	Silent	SNP	A	A	G			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr20:52612476A>G	ENST00000395961.3	-	5	1003	c.837T>C	c.(835-837)gcT>gcC	p.A279A	BCAS1_ENST00000434986.2_5'UTR|BCAS1_ENST00000371440.3_Silent_p.A279A|BCAS1_ENST00000371435.2_Silent_p.A279A	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	279						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.A279A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCTCTGCTATAGCTGCTGCCT	0.443																																																1	Substitution - coding silent(1)	ovary(1)	20											109	101	103					20																	52612476		2203	4300	6503	52045883	SO:0001819	synonymous_variant	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.837T>C	20.37:g.52612476A>G			52045883	A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	CCDS13444.1																																																																																				0.443	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		G	52612476	A	G	52612476	2	3	100	1	0	0	0	0	0	0	0	1	1350	407	15	4		4	BCAS1	20	52612476	Silent	SNP	A	TCGA-13-0893-01B-01W-0494-09	22179688	52612476	10413044	74	5381											
KRTAP10-11	386678	genome.wustl.edu	37	21	46066871	46066871	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chr21:46066871T>C	ENST00000334670.8	+	1	541	c.496T>C	c.(496-498)Tct>Cct	p.S166P	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	166	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S166P(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TGAGGATTCCTCTTCATGCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	21											166	168	168					21																	46066871		2203	4300	6503	44891299	SO:0001583	missense	386678			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.496T>C	21.37:g.46066871T>C	ENSP00000334197:p.Ser166Pro		44891299	A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	t	0.050	-1.253128	0.01457	.	.	ENSG00000243489	ENST00000334670	T	0.00662	5.93	1.46	-0.348	0.12613	.	.	.	.	.	T	0.00724	0.0024	L	0.37850	1.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.31617	T	0.26	.	4.7313	0.12966	0.0:0.5325:0.0:0.4675	.	166	P60412	KR10B_HUMAN	P	166	ENSP00000334197:S166P	ENSP00000334197:S166P	S	+	1	0	KRTAP10-11	44891299	0.022000	0.18835	0.004000	0.12327	0.121000	0.20230	1.236000	0.32683	-0.099000	0.12263	0.374000	0.22700	TCT		0.622	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		C	46066871	T	C	46066871	3	2	100	1	0	0	0	0	1	0	0	0	8507	1551	54	4	498	4	KRTAP10-11	21	46066871	Missense_Mutation	SNP	T	TCGA-13-0893-01B-01W-0494-09		46066871	2063024	75	5382											
ZCCHC16	340595	genome.wustl.edu	37	X	111698393	111698393	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0893-01B-01W-0494-09	TCGA-13-0893-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a335ab49-84b7-4d3b-a03d-9c3931904ca5	23f57381-b679-41b8-8197-aed711f71db4	g.chrX:111698393C>T	ENST00000340433.2	+	1	667	c.437C>T	c.(436-438)cCt>cTt	p.P146L		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	146							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P146L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAAATCAATCCTCTGATGAAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											83	79	81					X																	111698393		2203	4300	6503	111585049	SO:0001583	missense	340595			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.437C>T	X.37:g.111698393C>T	ENSP00000340590:p.Pro146Leu		111585049	B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.651875	0.00785	.	.	ENSG00000187823	ENST00000340433	T	0.30448	1.53	4.12	1.3	0.21679	.	1.081410	0.07229	N	0.862202	T	0.18425	0.0442	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.30327	-0.9982	10	0.42905	T	0.14	-0.3401	4.1987	0.10455	0.1566:0.5941:0.1507:0.0986	.	146	Q6ZR62	ZCH16_HUMAN	L	146	ENSP00000340590:P146L	ENSP00000340590:P146L	P	+	2	0	ZCCHC16	111585049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.066000	0.03454	-0.073000	0.12842	-1.225000	0.01585	CCT		0.418	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		T	111698393	C	T	111698393	3	4	100	1	0	0	0	0	1	0	0	0	17584	681	24	2	439	2	ZCCHC16	23	111698393	Missense_Mutation	SNP	C	TCGA-13-0893-01B-01W-0494-09		111698393	43572167	76	5383											
DUSP27	92235	genome.wustl.edu	37	1	167095999	167095999	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr1:167095999T>A	ENST00000361200.2	+	6	1797	c.1631T>A	c.(1630-1632)cTg>cAg	p.L544Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.L544Q|DUSP27_ENST00000271385.5_Missense_Mutation_p.L544Q|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	544					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L544Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTCACTGCCCTGGAAAGATGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											90	89	89					1																	167095999		2203	4300	6503	165362623	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1631T>A	1.37:g.167095999T>A	ENSP00000354483:p.Leu544Gln		165362623	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.882949	0.72410	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.10960	2.82;2.82;2.82	5.29	5.29	0.74685	.	0.000000	0.47852	D	0.000209	T	0.24005	0.0581	M	0.71581	2.175	0.49687	D	0.999811	D	0.89917	1.0	D	0.87578	0.998	T	0.01839	-1.1263	10	0.87932	D	0	-12.563	15.2516	0.73552	0.0:0.0:0.0:1.0	.	544	Q5VZP5	DUS27_HUMAN	Q	544	ENSP00000354483:L544Q;ENSP00000271385:L544Q;ENSP00000404874:L544Q	ENSP00000271385:L544Q	L	+	2	0	DUSP27	165362623	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	7.690000	0.84178	1.987000	0.57996	0.523000	0.50628	CTG		0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167095999	T	A	167095999	3	1	101	1	0	0	0	0	1	0	0	0	4824	1580	55	5	1649	5	DUSP27	1	167095999	Missense_Mutation	SNP	T	TCGA-13-0894-01B-01W-0494-09		167095999	82154622	1	5384											
SLC9A11	284525	genome.wustl.edu	37	1	173545823	173545823	+	Silent	SNP	C	C	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr1:173545823C>T	ENST00000367714.3	-	8	1301	c.879G>A	c.(877-879)ccG>ccA	p.P293P	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.P191P	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	293					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.P293P(1)									GTTCGATCTTCGGTTTAAAAG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	1											77	74	75					1																	173545823		2203	4300	6503	171812446	SO:0001819	synonymous_variant	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.879G>A	1.37:g.173545823C>T			171812446	Q86UF3	Silent	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																				0.403	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		T	173545823	C	T	173545823	2	4	101	1	0	0	0	0	0	0	0	1	14714	871	31	1		1	SLC9A11	1	173545823	Silent	SNP	C	TCGA-13-0894-01B-01W-0494-09	6449824	173545823	75704798	2	5385											
IVNS1ABP	10625	genome.wustl.edu	37	1	185278530	185278530	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr1:185278530A>T	ENST00000367498.3	-	3	718	c.96T>A	c.(94-96)tgT>tgA	p.C32*	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Nonsense_Mutation_p.C32*|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	32	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.C32*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GTCGAACATCACAGAACTGGC	0.294																																																1	Substitution - Nonsense(1)	ovary(1)	1											69	73	72					1																	185278530		2203	4299	6502	183545153	SO:0001587	stop_gained	10625			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.96T>A	1.37:g.185278530A>T	ENSP00000356468:p.Cys32*		183545153	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Nonsense_Mutation	SNP	ENST00000367498.3	37	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	A	41	8.763458	0.98943	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	.	.	.	5.62	3.27	0.37495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9168	0.41439	0.7995:0.0:0.2005:0.0	.	.	.	.	X	32	.	ENSP00000356467:C32X	C	-	3	2	IVNS1ABP	183545153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.446000	0.35090	0.969000	0.38237	0.533000	0.62120	TGT		0.294	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		T	185278530	A	T	185278530	4	4	101	1	0	0	0	0	0	1	0	0	7930	157	6	5	1884	5	IVNS1ABP	1	185278530	Nonsense_Mutation	SNP	A	TCGA-13-0894-01B-01W-0494-09	11732707	185278530	63972091	3	5386											
CRB1	23418	genome.wustl.edu	37	1	197325987	197325987	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr1:197325987G>A	ENST00000367400.3	+	5	1150	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	CRB1_ENST00000535699.1_Missense_Mutation_p.D270N|CRB1_ENST00000543483.1_Missense_Mutation_p.D38N|CRB1_ENST00000538660.1_Missense_Mutation_p.D339N|CRB1_ENST00000367399.2_Missense_Mutation_p.D227N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	339	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D339N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGTGAGATCGACCTCAATGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											140	122	128					1																	197325987		2203	4300	6503	195592610	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1015G>A	1.37:g.197325987G>A	ENSP00000356370:p.Asp339Asn		195592610	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202499	0.22121	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483	D;D;D;D;D	0.94184	-2.24;-2.24;-2.24;-3.37;-3.37	5.18	-0.33	0.12683	Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86871	0.6037	L	0.45422	1.42	0.54753	D	0.999981	P;P;P;P;D	0.57899	0.878;0.878;0.857;0.841;0.981	B;B;B;B;P	0.44447	0.399;0.294;0.199;0.241;0.45	T	0.80051	-0.1544	9	0.14656	T	0.56	.	4.0116	0.09624	0.074:0.2574:0.4033:0.2653	.	339;270;227;339;364	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	N	270;339;339;227;38	ENSP00000438786:D270N;ENSP00000438091:D339N;ENSP00000356370:D339N;ENSP00000356369:D227N;ENSP00000439579:D38N	ENSP00000356369:D227N	D	+	1	0	CRB1	195592610	0.978000	0.34361	0.000000	0.03702	0.007000	0.05969	1.719000	0.38011	-0.246000	0.09611	-1.509000	0.00949	GAC		0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		A	197325987	G	A	197325987	3	1	101	1	0	0	0	0	1	0	0	0	3848	1058	37	1	1033	1	CRB1	1	197325987	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	12047457	197325987	51924634	4	5387											
PLXNA2	5362	genome.wustl.edu	37	1	208390402	208390402	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr1:208390402T>A	ENST00000367033.3	-	2	1623	c.866A>T	c.(865-867)aAg>aTg	p.K289M		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	289	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.K289M(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGAGTGGAACTTGGGGTCATC	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											87	85	85					1																	208390402		2203	4300	6503	206457025	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.866A>T	1.37:g.208390402T>A	ENSP00000356000:p.Lys289Met		206457025	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.738888	0.69304	.	.	ENSG00000076356	ENST00000367033	T	0.11712	2.75	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.63843	1.955	0.58432	D	0.999998	D;D	0.69078	0.997;0.996	D;D	0.67231	0.95;0.918	T	0.01136	-1.1440	10	0.66056	D	0.02	.	15.9451	0.79787	0.0:0.0:0.0:1.0	.	343;289	O75051-2;O75051	.;PLXA2_HUMAN	M	289	ENSP00000356000:K289M	ENSP00000356000:K289M	K	-	2	0	PLXNA2	206457025	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.747000	0.85070	2.177000	0.69029	0.533000	0.62120	AAG		0.637	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		A	208390402	T	A	208390402	3	1	101	1	0	0	0	0	1	0	0	0	12120	1609	56	5	4942	5	PLXNA2	1	208390402	Missense_Mutation	SNP	T	TCGA-13-0894-01B-01W-0494-09	11064415	208390402	40860219	5	5388											
CENPF	1063	genome.wustl.edu	37	1	214820500	214820500	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr1:214820500T>G	ENST00000366955.3	+	13	7755	c.7587T>G	c.(7585-7587)aaT>aaG	p.N2529K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2625	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.N2529K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GACTGAAAAATCAAATTCAAG	0.408																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Missense(1)	ovary(1)	1											89	94	92					1																	214820500		2203	4300	6503	212887123	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7587T>G	1.37:g.214820500T>G	ENSP00000355922:p.Asn2529Lys		212887123	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	T	9.804	1.181329	0.21787	.	.	ENSG00000117724	ENST00000366955	T	0.02837	4.14	5.34	-4.69	0.03299	.	1.294670	0.05726	N	0.598740	T	0.01870	0.0059	L	0.34521	1.04	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	T	0.48614	-0.9020	10	0.10377	T	0.69	.	1.8757	0.03217	0.2089:0.285:0.3482:0.1579	.	2625	P49454	CENPF_HUMAN	K	2529	ENSP00000355922:N2529K	ENSP00000355922:N2529K	N	+	3	2	CENPF	212887123	0.002000	0.14202	0.001000	0.08648	0.788000	0.44548	-0.130000	0.10498	-0.419000	0.07439	0.496000	0.49642	AAT		0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214820500	T	G	214820500	3	3	101	1	0	0	0	0	1	0	0	0	3231	1432	50	5	7633	5	CENPF	1	214820500	Missense_Mutation	SNP	T	TCGA-13-0894-01B-01W-0494-09	6430098	214820500	34430121	6	5389											
TRIM67	440730	genome.wustl.edu	37	1	231344752	231344752	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr1:231344752A>G	ENST00000366653.5	+	8	1879	c.1879A>G	c.(1879-1881)Aac>Gac	p.N627D	TRIM67_ENST00000449018.3_Missense_Mutation_p.N565D|TRIM67_ENST00000444294.3_Missense_Mutation_p.N625D|TRIM67_ENST00000366652.2_Missense_Mutation_p.N627D			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	627	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.N627D(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ATCCAATGACAACCAGACAGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											89	98	95					1																	231344752		2153	4272	6425	229411375	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1879A>G	1.37:g.231344752A>G	ENSP00000355613:p.Asn627Asp		229411375	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951628	0.92660	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.83257	0.5215	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.81604	-0.0857	10	0.32370	T	0.25	.	16.3197	0.82945	1.0:0.0:0.0:0.0	.	627	Q6ZTA4	TRI67_HUMAN	D	625;627;565;627	ENSP00000412124:N625D;ENSP00000355612:N627D;ENSP00000400163:N565D;ENSP00000355613:N627D	ENSP00000355612:N627D	N	+	1	0	TRIM67	229411375	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.185000	0.94900	2.302000	0.77476	0.533000	0.62120	AAC		0.582	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		G	231344752	A	G	231344752	3	3	101	1	0	0	0	0	1	0	0	0	16540	130	5	4	1909	4	TRIM67	1	231344752	Missense_Mutation	SNP	A	TCGA-13-0894-01B-01W-0494-09	16524252	231344752	17905869	7	5390											
TFB2M	64216	genome.wustl.edu	37	1	246704364	246704364	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr1:246704364C>G	ENST00000366514.4	-	8	1345	c.1160G>C	c.(1159-1161)tGg>tCg	p.W387S		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	387					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.W387S(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ATCATACAGCCATTTATAAGC	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											134	121	126					1																	246704364		2203	4300	6503	244770987	SO:0001583	missense	64216			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1160G>C	1.37:g.246704364C>G	ENSP00000355471:p.Trp387Ser		244770987	Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348913	0.41599	.	.	ENSG00000162851	ENST00000366514	T	0.55413	0.52	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72293	-0.4336	10	0.72032	D	0.01	-12.0249	15.8708	0.79117	0.0:1.0:0.0:0.0	.	387	Q9H5Q4	TFB2M_HUMAN	S	387	ENSP00000355471:W387S	ENSP00000355471:W387S	W	-	2	0	TFB2M	244770987	1.000000	0.71417	0.736000	0.30914	0.023000	0.10783	3.971000	0.56831	2.608000	0.88229	0.650000	0.86243	TGG		0.373	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		G	246704364	C	G	246704364	3	3	101	1	0	0	0	0	1	0	0	0	15794	595	21	3	34	3	TFB2M	1	246704364	Missense_Mutation	SNP	C	TCGA-13-0894-01B-01W-0494-09	15359612	246704364	2546257	8	5391											
OR2T33	391195	genome.wustl.edu	37	1	248436166	248436166	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr1:248436166G>T	ENST00000318021.2	-	1	972	c.951C>A	c.(949-951)caC>caA	p.H317Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H317Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCTTGACCTGTGGGCCTCAT	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											138	140	139					1																	248436166		2203	4300	6503	246502789	SO:0001583	missense	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.951C>A	1.37:g.248436166G>T	ENSP00000324687:p.His317Gln		246502789	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	8.598	0.886283	0.17540	.	.	ENSG00000177212	ENST00000318021	T	0.00626	6.13	1.54	-0.785	0.10950	.	.	.	.	.	T	0.00412	0.0013	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43845	-0.9366	9	0.41790	T	0.15	.	2.6157	0.04902	0.3706:0.265:0.3645:0.0	.	317	Q8NG76	O2T33_HUMAN	Q	317	ENSP00000324687:H317Q	ENSP00000324687:H317Q	H	-	3	2	OR2T33	246502789	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.277000	0.08502	-0.202000	0.10268	0.175000	0.17021	CAC		0.413	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248436166	G	T	248436166	3	4	101	1	0	0	0	0	1	0	0	0	11024	1368	48	3	14	3	OR2T33	1	248436166	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	1731802	248436166	814455	9	5392											
PPM1G	5496	genome.wustl.edu	37	2	27605444	27605444	+	Silent	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr2:27605444G>A	ENST00000344034.4	-	8	1494	c.1230C>T	c.(1228-1230)aaC>aaT	p.N410N	ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Silent_p.N410N|ZNF513_ENST00000407879.1_5'Flank	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	410					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.N410N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CAGGTGGCAGGTTCTTGTTTC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	2											310	296	301					2																	27605444		2203	4300	6503	27458948	SO:0001819	synonymous_variant	5496			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1230C>T	2.37:g.27605444G>A			27458948		Silent	SNP	ENST00000344034.4	37	CCDS1752.1																																																																																				0.473	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		A	27605444	G	A	27605444	2	1	101	1	0	0	0	0	0	0	0	1	12343	1252	44	2		2	PPM1G	2	27605444	Silent	SNP	G	TCGA-13-0894-01B-01W-0494-09		27605444	215593929	10	5393											
MAP4K3	8491	genome.wustl.edu	37	2	39485580	39485580	+	Splice_Site	SNP	A	A	G			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr2:39485580A>G	ENST00000263881.3	-	31	2703	c.2379T>C	c.(2377-2379)tgT>tgC	p.C793C	MAP4K3_ENST00000536018.1_Splice_Site_p.C346C|MAP4K3_ENST00000437545.1_Splice_Site_p.C709C|MAP4K3_ENST00000341681.5_Splice_Site_p.C772C	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	793	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.C793C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTTTTATACAACCTAGAGGAA	0.308																																																1	Substitution - coding silent(1)	ovary(1)	2											49	53	52					2																	39485580		2199	4297	6496	39339084	SO:0001630	splice_region_variant	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2378-1T>C	2.37:g.39485580A>G			39339084	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	CCDS1803.1																																																																																				0.308	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	Silent	G	39485580	A	G	39485580	5	3	101	1	0	0	0	0	0	0	1	0	9261	57	2	4	321	4	MAP4K3	2	39485580	Splice_Site	SNP	A	TCGA-13-0894-01B-01W-0494-09	11880136	39485580	203713793	11	5394											
GTDC1	79712	genome.wustl.edu	37	2	144764886	144764886	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr2:144764886C>G	ENST00000392869.2	-	6	890	c.738G>C	c.(736-738)ttG>ttC	p.L246F	GTDC1_ENST00000344850.4_Missense_Mutation_p.L246F|GTDC1_ENST00000409214.1_Missense_Mutation_p.L246F|GTDC1_ENST00000392867.3_Missense_Mutation_p.L246F|GTDC1_ENST00000463875.2_Missense_Mutation_p.L117F|GTDC1_ENST00000542155.1_Missense_Mutation_p.L246F|GTDC1_ENST00000241391.5_Missense_Mutation_p.L246F|GTDC1_ENST00000409298.1_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	246					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.L246F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGGATTTTTTCAAGTCTGATT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											116	112	113					2																	144764886		2203	4300	6503	144481356	SO:0001583	missense	79712			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.738G>C	2.37:g.144764886C>G	ENSP00000376608:p.Leu246Phe		144481356	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624001	0.66901	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.50548	0.78;0.78;0.76;0.78;0.76;0.78;0.74	5.03	4.14	0.48551	.	0.708493	0.14055	N	0.344469	T	0.50394	0.1613	M	0.63843	1.955	0.09310	N	1	B;D;B;P	0.55172	0.019;0.97;0.003;0.631	B;P;B;B	0.44696	0.022;0.458;0.007;0.332	T	0.46803	-0.9165	10	0.62326	D	0.03	-14.1466	13.7789	0.63071	0.0:0.846:0.1539:0.0	.	246;246;246;246	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	F	246;246;246;246;246;246;117	ENSP00000376608:L246F;ENSP00000386581:L246F;ENSP00000376606:L246F;ENSP00000438323:L246F;ENSP00000241391:L246F;ENSP00000339750:L246F;ENSP00000437964:L117F	ENSP00000241391:L246F	L	-	3	2	GTDC1	144481356	0.010000	0.17322	0.164000	0.22755	0.873000	0.50193	1.174000	0.31932	1.217000	0.43442	0.655000	0.94253	TTG		0.363	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		G	144764886	C	G	144764886	3	3	101	1	0	0	0	0	1	0	0	0	6851	825	29	3	662	3	GTDC1	2	144764886	Missense_Mutation	SNP	C	TCGA-13-0894-01B-01W-0494-09	105279306	144764886	98434487	12	5395											
DYNC1I2	1781	genome.wustl.edu	37	2	172569285	172569285	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr2:172569285A>T	ENST00000397119.3	+	6	511	c.344A>T	c.(343-345)cAt>cTt	p.H115L	DYNC1I2_ENST00000410079.3_Intron|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.H115L|DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000340296.4_Intron|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.H109L|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.H115L|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.H109L|DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.H115L|AC068039.1_ENST00000598148.1_5'Flank|DYNC1I2_ENST00000358002.6_Intron	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	115					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)	p.H115L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGGACGCTGCATTGGGATACA	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											191	179	182					2																	172569285		1852	4103	5955	172277531	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.344A>T	2.37:g.172569285A>T	ENSP00000380308:p.His115Leu		172277531	B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512405	0.85389	.	.	ENSG00000077380	ENST00000452242;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000438879;ENST00000409317;ENST00000409773;ENST00000411953;ENST00000409453;ENST00000443458;ENST00000430778;ENST00000422646	T;T;T;T;T;T	0.75154	-0.91;-0.78;-0.69;-0.78;-0.69;-0.56	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	N	0.14661	0.345	0.80722	D	1	B;P	0.38020	0.228;0.615	B;B	0.35039	0.146;0.194	T	0.58544	-0.7618	10	0.27082	T	0.32	-10.3485	14.5922	0.68373	1.0:0.0:0.0:0.0	.	109;115	Q13409-2;Q13409	.;DC1I2_HUMAN	L	109;115;109;115;127;109;115;127;115;115;109;109	ENSP00000433791:H115L;ENSP00000263811:H109L;ENSP00000380308:H115L;ENSP00000386591:H109L;ENSP00000386415:H115L;ENSP00000386886:H115L	ENSP00000263811:H109L	H	+	2	0	DYNC1I2	172277531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.076000	0.94009	1.868000	0.54150	0.482000	0.46254	CAT		0.358	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		T	172569285	A	T	172569285	3	4	101	1	0	0	0	0	1	0	0	0	4843	217	8	5	362	5	DYNC1I2	2	172569285	Missense_Mutation	SNP	A	TCGA-13-0894-01B-01W-0494-09	27804399	172569285	70630088	13	5396											
TTN	7273	genome.wustl.edu	37	2	179559383	179559383	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr2:179559383T>C	ENST00000591111.1	-	115	30642	c.30418A>G	c.(30418-30420)Att>Gtt	p.I10140V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I9213V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I10457V|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I9213V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGGAACAATCTTCTTTGAA	0.274																																																1	Substitution - Missense(1)	ovary(1)	2											33	29	30					2																	179559383		1771	4039	5810	179267628	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30418A>G	2.37:g.179559383T>C	ENSP00000465570:p.Ile10140Val		179267628	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.18	2.160787	0.38119	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.67345	-0.26	6.07	6.07	0.98685	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54598	0.1868	N	0.24115	0.695	0.80722	D	1	B;B	0.12630	0.0;0.006	B;B	0.18263	0.0;0.021	T	0.53599	-0.8416	9	0.87932	D	0	.	13.0325	0.58851	0.0:0.0:0.0:1.0	.	10140;10140	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	V	9213;335	ENSP00000343764:I9213V	ENSP00000343764:I9213V	I	-	1	0	TTN	179267628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.147000	0.50639	2.326000	0.78906	0.533000	0.62120	ATT		0.274	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179559383	T	C	179559383	3	2	101	1	0	0	0	0	1	0	0	0	16735	1435	50	4	73144	4	TTN	2	179559383	Missense_Mutation	SNP	T	TCGA-13-0894-01B-01W-0494-09	6990098	179559383	63639990	14	5397											
CCDC108	255101	genome.wustl.edu	37	2	219892423	219892423	+	Silent	SNP	A	A	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr2:219892423A>C	ENST00000341552.5	-	13	2243	c.2160T>G	c.(2158-2160)ccT>ccG	p.P720P	CCDC108_ENST00000453220.1_Silent_p.P720P|CCDC108_ENST00000441968.1_Silent_p.P720P|CCDC108_ENST00000409865.3_Silent_p.P709P|CCDC108_ENST00000410037.1_Silent_p.P655P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	720						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.P720P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTTGGGGTGAGGCGGCTGGA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	2											80	81	81					2																	219892423		2203	4300	6503	219600667	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2160T>G	2.37:g.219892423A>C			219600667	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	CCDS2430.2																																																																																				0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		C	219892423	A	C	219892423	2	2	101	1	0	0	0	0	0	0	0	1	2743	291	11	5		5	CCDC108	2	219892423	Silent	SNP	A	TCGA-13-0894-01B-01W-0494-09	40333040	219892423	23306950	15	5398											
GOLGA4	2803	genome.wustl.edu	37	3	37367018	37367018	+	Missense_Mutation	SNP	C	C	G	rs141111369		TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr3:37367018C>G	ENST00000361924.2	+	14	4015	c.3641C>G	c.(3640-3642)gCg>gGg	p.A1214G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.A1236G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1214	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.A1214G(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGGAACTAGCGATTCAGCTA	0.338																																																1	Substitution - Missense(1)	ovary(1)	3											50	52	51					3																	37367018		2203	4299	6502	37342022	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3641C>G	3.37:g.37367018C>G	ENSP00000354486:p.Ala1214Gly		37342022	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	6.046	0.376760	0.11466	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25085	1.83;1.82;1.83	5.1	4.23	0.50019	.	0.496580	0.15105	N	0.280274	T	0.26955	0.0660	L	0.53249	1.67	0.09310	N	1	P;P;P;P	0.44690	0.841;0.712;0.712;0.796	P;B;B;B	0.46685	0.524;0.324;0.324;0.225	T	0.09707	-1.0662	10	0.24483	T	0.36	.	5.6027	0.17363	0.1465:0.6422:0.0:0.2113	.	1214;1214;1236;1214	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	G	1214;1236;1085	ENSP00000354486:A1214G;ENSP00000349305:A1236G;ENSP00000405842:A1085G	ENSP00000349305:A1236G	A	+	2	0	GOLGA4	37342022	0.000000	0.05858	0.005000	0.12908	0.120000	0.20174	-0.018000	0.12568	1.153000	0.42468	0.563000	0.77884	GCG		0.338	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		G	37367018	C	G	37367018	3	3	101	1	0	0	0	0	1	0	0	0	6555	768	27	3	3765	3	GOLGA4	3	37367018	Missense_Mutation	SNP	C	TCGA-13-0894-01B-01W-0494-09		37367018	160655412	16	5399											
POLQ	10721	genome.wustl.edu	37	3	121228536	121228536	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr3:121228536G>C	ENST00000264233.5	-	12	1959	c.1831C>G	c.(1831-1833)Cca>Gca	p.P611A		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	611					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.P746A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGATGTGTTGGATGATACACC	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - Missense(1)	ovary(1)	3											106	116	112					3																	121228536		2202	4300	6502	122711226	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1831C>G	3.37:g.121228536G>C	ENSP00000264233:p.Pro611Ala		122711226	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403047	0.25291	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.37584	1.19	5.16	4.28	0.50868	.	0.056165	0.64402	D	0.000001	T	0.26810	0.0656	L	0.35644	1.08	0.52501	D	0.999951	B	0.06786	0.001	B	0.12837	0.008	T	0.05784	-1.0864	10	0.23302	T	0.38	.	10.1717	0.42913	0.0747:0.1371:0.7882:0.0	.	611	O75417	DPOLQ_HUMAN	A	234;611;747	ENSP00000264233:P611A	ENSP00000264233:P611A	P	-	1	0	POLQ	122711226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.196000	0.72094	1.299000	0.44798	0.585000	0.79938	CCA		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		C	121228536	G	C	121228536	3	2	101	1	0	0	0	0	1	0	0	0	12208	1174	41	3	6017	3	POLQ	3	121228536	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	83861518	121228536	76793894	17	5400											
GFM1	85476	genome.wustl.edu	37	3	158371186	158371186	+	Silent	SNP	T	T	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr3:158371186T>C	ENST00000486715.1	+	7	1285	c.928T>C	c.(928-930)Tta>Cta	p.L310L	GFM1_ENST00000264263.5_Silent_p.L329L|GFM1_ENST00000478576.1_Silent_p.L310L	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.L310L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCAGCCTCTTTTAGATGCTGT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	3											96	96	96					3																	158371186		2203	4300	6503	159853880	SO:0001819	synonymous_variant	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.928T>C	3.37:g.158371186T>C			159853880		Silent	SNP	ENST00000486715.1	37	CCDS33885.1																																																																																				0.358	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		C	158371186	T	C	158371186	2	2	101	1	0	0	0	0	0	0	0	1	6341	1838	64	4		4	GFM1	3	158371186	Silent	SNP	T	TCGA-13-0894-01B-01W-0494-09	37142650	158371186	39651244	18	5401											
EHHADH	1962	genome.wustl.edu	37	3	184910026	184910026	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr3:184910026G>C	ENST00000231887.3	-	7	2235	c.2160C>G	c.(2158-2160)agC>agG	p.S720R	EHHADH_ENST00000456310.1_Missense_Mutation_p.S624R|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	720					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.S720R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			ACAATTTACTGCTAGGGGAGC	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											68	73	71					3																	184910026		2203	4300	6503	186392720	SO:0001583	missense	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.2160C>G	3.37:g.184910026G>C	ENSP00000231887:p.Ser720Arg		186392720	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	1.682	-0.506170	0.04231	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	T;T	0.75154	-0.5;-0.91	5.91	4.06	0.47325	.	0.949217	0.08976	N	0.866543	T	0.58323	0.2114	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.51896	-0.8647	10	0.44086	T	0.13	-1.928	8.2207	0.31539	0.1355:0.1293:0.7351:0.0	.	720	Q08426	ECHP_HUMAN	R	720;624	ENSP00000231887:S720R;ENSP00000387746:S624R	ENSP00000231887:S720R	S	-	3	2	EHHADH	186392720	0.983000	0.35010	0.886000	0.34754	0.193000	0.23685	1.825000	0.39081	1.498000	0.48600	0.655000	0.94253	AGC		0.423	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			C	184910026	G	C	184910026	3	2	101	1	0	0	0	0	1	0	0	0	4982	1310	46	3	15	3	EHHADH	3	184910026	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	26538840	184910026	13112404	19	5402											
AASDH	132949	genome.wustl.edu	37	4	57217538	57217538	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr4:57217538G>T	ENST00000205214.6	-	10	1842	c.1662C>A	c.(1660-1662)gaC>gaA	p.D554E	AASDH_ENST00000602986.1_Missense_Mutation_p.D401E|AASDH_ENST00000502617.1_Missense_Mutation_p.D554E|AASDH_ENST00000451613.1_Missense_Mutation_p.D554E|AASDH_ENST00000434343.2_Missense_Mutation_p.D69E|AASDH_ENST00000513376.1_Missense_Mutation_p.D454E	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	554					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.D554E(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTCCCAAAGGTCCTCTTTCC	0.284																																																1	Substitution - Missense(1)	ovary(1)	4											53	59	57					4																	57217538		2199	4272	6471	56912295	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1662C>A	4.37:g.57217538G>T	ENSP00000205214:p.Asp554Glu		56912295	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	2.355	-0.347967	0.05208	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.61274	0.12;0.27;2.35;0.71;0.71	5.25	-2.17	0.07059	Acyl carrier protein-like (1);	0.557597	0.21936	N	0.066942	T	0.16854	0.0405	N	0.01705	-0.755	0.26328	N	0.977564	B;B;B;B	0.09022	0.002;0.001;0.001;0.0	B;B;B;B	0.09377	0.004;0.003;0.003;0.0	T	0.22208	-1.0223	10	0.02654	T	1	-9.1322	0.9255	0.01324	0.3367:0.1336:0.1243:0.4054	.	401;554;554;554	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	E	554;454;69;554;401;554	ENSP00000205214:D554E;ENSP00000423760:D454E;ENSP00000392158:D69E;ENSP00000409656:D554E;ENSP00000421171:D554E	ENSP00000205214:D554E	D	-	3	2	AASDH	56912295	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	0.530000	0.23036	-0.500000	0.06614	-1.058000	0.02302	GAC		0.284	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		T	57217538	G	T	57217538	3	4	101	1	0	0	0	0	1	0	0	0	22	1252	44	3	1658	3	AASDH	4	57217538	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09		57217538	133936738	20	5403											
TRPC3	7222	genome.wustl.edu	37	4	122846207	122846207	+	Missense_Mutation	SNP	C	C	G	rs201312365		TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr4:122846207C>G	ENST00000379645.3	-	3	1215	c.1142G>C	c.(1141-1143)cGt>cCt	p.R381P	TRPC3_ENST00000264811.5_Missense_Mutation_p.R308P|TRPC3_ENST00000513531.1_Missense_Mutation_p.R308P	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	296					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R308P(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTTTGACACGACTTAATGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	4											211	188	196					4																	122846207		2203	4300	6503	123065657	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1142G>C	4.37:g.122846207C>G	ENSP00000368966:p.Arg381Pro		123065657	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007380	0.93287	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.74315	-0.83;-0.83;-0.83	5.92	5.92	0.95590	.	0.075570	0.56097	D	0.000024	D	0.88640	0.6491	M	0.87547	2.89	0.80722	D	1	P;D;D	0.67145	0.943;0.996;0.989	P;D;P	0.71870	0.796;0.975;0.905	D	0.89477	0.3747	10	0.87932	D	0	-16.1466	20.3081	0.98638	0.0:1.0:0.0:0.0	.	296;308;381	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	P	308;381;308	ENSP00000264811:R308P;ENSP00000368966:R381P;ENSP00000426899:R308P	ENSP00000264811:R308P	R	-	2	0	TRPC3	123065657	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.755000	0.85180	2.795000	0.96236	0.655000	0.94253	CGT		0.423	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		G	122846207	C	G	122846207	3	3	101	1	0	0	0	0	1	0	0	0	16579	536	19	3	1663	3	TRPC3	4	122846207	Missense_Mutation	SNP	C	TCGA-13-0894-01B-01W-0494-09	65628669	122846207	68308069	21	5404											
GPR98	84059	genome.wustl.edu	37	5	90049489	90049489	+	Silent	SNP	C	C	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr5:90049489C>A	ENST00000405460.2	+	54	11316	c.11220C>A	c.(11218-11220)acC>acA	p.T3740T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3740					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T3740T(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACCCTCACCCGTATCACCA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	5											103	99	100					5																	90049489		1885	4125	6010	90085245	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11220C>A	5.37:g.90049489C>A			90085245	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.395769	0.01175	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.53	-0.771	0.11002	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	.	1.3946	0.02257	0.1238:0.3542:0.2411:0.2809	.	.	.	.	H	1306	.	.	P	+	2	0	GPR98	90085245	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.084000	0.11268	-0.506000	0.06558	0.557000	0.71058	CCC		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90049489	C	A	90049489	2	1	101	1	0	0	0	0	0	0	0	1	6721	610	22	3		3	GPR98	5	90049489	Silent	SNP	C	TCGA-13-0894-01B-01W-0494-09		90049489	90865771	22	5405											
GABRA6	2559	genome.wustl.edu	37	5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr5:161119060G>A	ENST00000274545.5	+	8	1373	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.V304I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	314					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.V314I(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)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)																																						1	Substitution - Missense(1)	ovary(1)	5											176	146	156					5																	161119060		2203	4300	6503	161051638	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.940G>A	5.37:g.161119060G>A	ENSP00000274545:p.Val314Ile		161051638	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062912	0.93898	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.88354	-2.37;-2.37	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94268	0.7508	10	0.87932	D	0	.	18.9984	0.92822	0.0:0.0:1.0:0.0	.	314	Q16445	GBRA6_HUMAN	I	314;304	ENSP00000274545:V314I;ENSP00000430527:V304I	ENSP00000274545:V314I	V	+	1	0	GABRA6	161051638	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.751000	0.98889	2.468000	0.83385	0.650000	0.86243	GTC		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			A	161119060	G	A	161119060	3	1	101	1	0	0	0	0	1	0	0	0	6165	1145	40	1	970	1	GABRA6	5	161119060	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	71069571	161119060	19796200	23	5406											
OPN5	221391	genome.wustl.edu	37	6	47763300	47763300	+	Splice_Site	SNP	G	G	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr6:47763300G>C	ENST00000371211.2	+	4	784		c.e4+1		OPN5_ENST00000244799.4_Splice_Site|OPN5_ENST00000393699.2_Splice_Site|OPN5_ENST00000489301.2_Splice_Site	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5						phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.?(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ACTGACAAAGGTAAGTGCACT	0.408																																					Melanoma(28;740 973 10870 42660 45347)											1	Unknown(1)	ovary(1)	6											79	70	73					6																	47763300		2203	4300	6503	47871259	SO:0001630	splice_region_variant	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.756+1G>C	6.37:g.47763300G>C			47871259	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Splice_Site	SNP	ENST00000371211.2	37	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749982	0.69533	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0535	0.93054	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPN5	47871259	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.420000	0.97426	2.567000	0.86603	0.555000	0.69702	.		0.408	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744	Intron	C	47763300	G	C	47763300	5	2	101	1	0	0	0	0	0	0	1	0	10883	1275	44	3	771	3	OPN5	6	47763300	Splice_Site	SNP	G	TCGA-13-0894-01B-01W-0494-09		47763300	123351767	24	5407											
L3MBTL3	84456	genome.wustl.edu	37	6	130387570	130387570	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr6:130387570G>A	ENST00000529410.1	+	13	1416	c.937G>A	c.(937-939)Gct>Act	p.A313T	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.A288T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.A288T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.A313T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.A313T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.A288T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	313					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A313T(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAATGCAGACGCTCTGGATAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											90	90	90					6																	130387570		2203	4300	6503	130429263	SO:0001583	missense	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.937G>A	6.37:g.130387570G>A	ENSP00000431962:p.Ala313Thr		130429263	Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046354	0.75846	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.62	5.62	0.85841	.	0.050649	0.85682	D	0.000000	T	0.08223	0.0205	N	0.05330	-0.07	0.50632	D	0.999884	D;P	0.59767	0.986;0.851	B;B	0.37451	0.25;0.202	T	0.04708	-1.0932	10	0.59425	D	0.04	.	13.036	0.58873	0.0:0.0:0.7358:0.2642	.	288;313	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	T	313;288;313;288;288;313	ENSP00000431962:A313T;ENSP00000437185:A288T;ENSP00000354526:A313T;ENSP00000357121:A288T;ENSP00000436706:A288T;ENSP00000357118:A313T	ENSP00000354526:A313T	A	+	1	0	L3MBTL3	130429263	1.000000	0.71417	0.914000	0.36105	0.781000	0.44180	6.949000	0.75971	2.797000	0.96272	0.555000	0.69702	GCT		0.403	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		A	130387570	G	A	130387570	3	1	101	1	0	0	0	0	1	0	0	0	8593	1087	38	1	971	1	L3MBTL3	6	130387570	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	82624270	130387570	40727497	25	5408											
GPR126	57211	genome.wustl.edu	37	6	142688960	142688960	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr6:142688960T>G	ENST00000230173.6	+	3	834	c.358T>G	c.(358-360)Ttt>Gtt	p.F120V	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000296932.8_Missense_Mutation_p.F120V|GPR126_ENST00000367609.3_Missense_Mutation_p.F120V|GPR126_ENST00000367608.2_Missense_Mutation_p.F120V	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	120	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F119V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGGCCTATCATTTAACTCAAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											81	78	79					6																	142688960		1880	4102	5982	142730653	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.358T>G	6.37:g.142688960T>G	ENSP00000230173:p.Phe120Val		142730653	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256797	0.80246	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199;ENST00000435011	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.72	5.72	0.89469	CUB (5);	0.092939	0.47852	D	0.000219	T	0.09335	0.0230	N	0.05306	-0.075	0.32112	N	0.589196	P;P;P;P;D	0.56287	0.878;0.935;0.935;0.947;0.975	P;P;P;P;P	0.54100	0.487;0.487;0.625;0.742;0.719	T	0.09818	-1.0657	10	0.72032	D	0.01	.	15.999	0.80275	0.0:0.0:0.0:1.0	.	120;120;120;120;119	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	V	120;120;120;120;119;120	ENSP00000230173:F120V;ENSP00000356580:F120V;ENSP00000296932:F120V;ENSP00000356581:F120V;ENSP00000446287:F119V;ENSP00000438366:F120V	ENSP00000230173:F120V	F	+	1	0	GPR126	142730653	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.657000	0.67996	2.176000	0.68965	0.528000	0.53228	TTT		0.403	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			G	142688960	T	G	142688960	3	3	101	1	0	0	0	0	1	0	0	0	6640	1493	52	5	368	5	GPR126	6	142688960	Missense_Mutation	SNP	T	TCGA-13-0894-01B-01W-0494-09	12301390	142688960	28426107	26	5409											
IGF2BP3	10643	genome.wustl.edu	37	7	23391065	23391065	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr7:23391065C>A	ENST00000258729.3	-	6	898	c.542G>T	c.(541-543)aGg>aTg	p.R181M	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	181					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.R181M(1)|p.R181K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGACCCCTGCCTTGAGGAGCC	0.567																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	7											54	53	53					7																	23391065		2203	4300	6503	23357590	SO:0001583	missense	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.542G>T	7.37:g.23391065C>A	ENSP00000258729:p.Arg181Met		23357590	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	C	35	5.550663	0.96501	.	.	ENSG00000136231	ENST00000258729	T	0.17213	2.29	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.61703	1.905	0.80722	D	1	D	0.54047	0.964	P	0.49361	0.608	T	0.00926	-1.1512	10	0.56958	D	0.05	-10.6987	20.2405	0.98372	0.0:1.0:0.0:0.0	.	181	O00425	IF2B3_HUMAN	M	181	ENSP00000258729:R181M	ENSP00000258729:R181M	R	-	2	0	IGF2BP3	23357590	0.993000	0.37304	0.944000	0.38274	0.961000	0.63080	7.770000	0.85390	2.797000	0.96272	0.561000	0.74099	AGG		0.567	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		A	23391065	C	A	23391065	3	1	101	1	0	0	0	0	1	0	0	0	7575	681	24	3	1237	3	IGF2BP3	7	23391065	Missense_Mutation	SNP	C	TCGA-13-0894-01B-01W-0494-09		23391065	135747598	27	5410											
CD36	948	genome.wustl.edu	37	7	80303418	80303418	+	Silent	SNP	T	T	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr7:80303418T>C	ENST00000435819.1	+	17	2058	c.1374T>C	c.(1372-1374)gcT>gcC	p.A458A	CD36_ENST00000433696.2_Silent_p.A419A|CD36_ENST00000447544.2_Silent_p.A458A|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000534394.1_Silent_p.A382A|CD36_ENST00000394788.3_Silent_p.A458A|CD36_ENST00000538969.1_Silent_p.A398A|CD36_ENST00000309881.7_Silent_p.A458A|CD36_ENST00000432207.1_Silent_p.A458A			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	458					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)	p.A458A(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGTTTGTTGCTTTTATGATTT	0.313																																																2	Substitution - coding silent(2)	ovary(2)	7											149	146	147					7																	80303418		2202	4300	6502	80141354	SO:0001819	synonymous_variant	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1374T>C	7.37:g.80303418T>C			80141354	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	ENST00000435819.1	37	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	T	9.994	1.231717	0.22626	.	.	ENSG00000135218	ENST00000488048	.	.	.	5.84	-2.97	0.05530	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44097	-0.9350	4	.	.	.	-26.4173	5.4806	0.16721	0.5064:0.288:0.0:0.2056	.	.	.	.	L	52	.	.	F	+	1	0	CD36	80141354	0.002000	0.14202	0.997000	0.53966	0.876000	0.50452	-0.805000	0.04530	-0.103000	0.12175	0.459000	0.35465	TTT		0.313	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		C	80303418	T	C	80303418	2	2	101	1	0	0	0	0	0	0	0	1	3007	1596	56	4		4	CD36	7	80303418	Silent	SNP	T	TCGA-13-0894-01B-01W-0494-09	56912353	80303418	78835245	28	5411											
PTCD1	26024	genome.wustl.edu	37	7	99032479	99032479	+	Missense_Mutation	SNP	C	C	A	rs575061663		TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr7:99032479C>A	ENST00000292478.4	-	2	637	c.387G>T	c.(385-387)tgG>tgT	p.W129C	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.W178C|PTCD1_ENST00000555673.1_Missense_Mutation_p.W178C|ATP5J2-PTCD1_ENST00000437572.1_5'Flank	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	129					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.W129C(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCGGCCTCGCCATAATTTGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	7											160	168	165					7																	99032479		2203	4300	6503	98870415	SO:0001583	missense	26024			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.387G>T	7.37:g.99032479C>A	ENSP00000292478:p.Trp129Cys		98870415	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977785	0.34942	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000413834	T;T;D;D;T	0.85556	-0.18;-0.16;-1.86;-2.0;-0.16	5.97	5.97	0.96955	.	0.103684	0.64402	D	0.000001	D	0.90338	0.6977	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.65323	0.934;0.781	D	0.88949	0.3385	10	0.38643	T	0.18	-10.229	11.7402	0.51788	0.0:0.8071:0.125:0.0679	.	178;129	G3V325;O75127	.;PTCD1_HUMAN	C	129;178;129;129;178	ENSP00000292478:W129C;ENSP00000450995:W178C;ENSP00000390530:W129C;ENSP00000408059:W129C;ENSP00000400168:W178C	ENSP00000400168:W178C	W	-	3	0	ATP5J2-PTCD1;PTCD1	98870415	0.542000	0.26426	0.810000	0.32431	0.008000	0.06430	0.960000	0.29253	2.837000	0.97791	0.655000	0.94253	TGG		0.552	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		A	99032479	C	A	99032479	3	1	101	1	0	0	0	0	1	0	0	0	12730	740	26	3	1743	3	PTCD1	7	99032479	Missense_Mutation	SNP	C	TCGA-13-0894-01B-01W-0494-09	18729061	99032479	60106184	29	5412											
SPAM1	6677	genome.wustl.edu	37	7	123599954	123599954	+	Silent	SNP	C	C	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr7:123599954C>T	ENST00000439500.1	+	6	2074	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	SPAM1_ENST00000223028.7_Silent_p.S487S|SPAM1_ENST00000460182.1_Silent_p.S487S|SPAM1_ENST00000340011.5_Silent_p.S487S|SPAM1_ENST00000402183.2_Silent_p.S487S	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	487					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.S487S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTCACCCTCCACACTATCTG	0.378																																																1	Substitution - coding silent(1)	ovary(1)	7											125	117	120					7																	123599954		2203	4300	6503	123387190	SO:0001819	synonymous_variant	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1461C>T	7.37:g.123599954C>T			123387190	Q8TC30	Silent	SNP	ENST00000439500.1	37	CCDS5791.1																																																																																				0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			T	123599954	C	T	123599954	2	4	101	1	0	0	0	0	0	0	0	1	14989	581	21	2		2	SPAM1	7	123599954	Silent	SNP	C	TCGA-13-0894-01B-01W-0494-09	24567475	123599954	35538709	30	5413											
OR2A12	346525	genome.wustl.edu	37	7	143792990	143792990	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr7:143792990A>G	ENST00000408949.2	+	1	850	c.790A>G	c.(790-792)Agc>Ggc	p.S264G		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S264G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CCCCAAGTCAAGCCATTCTCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	7											171	164	166					7																	143792990		1908	4140	6048	143423923	SO:0001583	missense	346525				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.790A>G	7.37:g.143792990A>G	ENSP00000386174:p.Ser264Gly		143423923	Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	A	3.191	-0.165820	0.06461	.	.	ENSG00000221858	ENST00000408949	T	0.77877	-1.13	4.33	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.68403	0.2997	L	0.28740	0.885	0.09310	N	1	B	0.23058	0.079	B	0.33121	0.158	T	0.58306	-0.7659	9	0.39692	T	0.17	0.4492	9.5092	0.39067	0.7037:0.2963:0.0:0.0	.	264	Q8NGT7	O2A12_HUMAN	G	264	ENSP00000386174:S264G	ENSP00000386174:S264G	S	+	1	0	OR2A12	143423923	0.000000	0.05858	0.038000	0.18304	0.199000	0.23934	-0.678000	0.05209	0.182000	0.20032	0.413000	0.27773	AGC		0.542	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			G	143792990	A	G	143792990	3	3	101	1	0	0	0	0	1	0	0	0	10975	72	3	4	792	4	OR2A12	7	143792990	Missense_Mutation	SNP	A	TCGA-13-0894-01B-01W-0494-09	20193036	143792990	15345673	31	5414											
CHMP4C	92421	genome.wustl.edu	37	8	82665358	82665358	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr8:82665358G>T	ENST00000297265.4	+	2	443	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	84	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)	p.G84C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TCAGATTGATGGCACACTTTC	0.438																																																1	Substitution - Missense(1)	ovary(1)	8											101	97	99					8																	82665358		2203	4300	6503	82827913	SO:0001583	missense	92421			AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.250G>T	8.37:g.82665358G>T	ENSP00000297265:p.Gly84Cys		82827913	B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872930	0.91664	.	.	ENSG00000164695	ENST00000297265	T	0.73469	-0.75	5.8	5.8	0.92144	.	0.043804	0.85682	D	0.000000	D	0.89798	0.6819	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90850	0.4730	10	0.62326	D	0.03	-18.6473	20.0471	0.97613	0.0:0.0:1.0:0.0	.	84	Q96CF2	CHM4C_HUMAN	C	84	ENSP00000297265:G84C	ENSP00000297265:G84C	G	+	1	0	CHMP4C	82827913	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.864000	0.99589	2.731000	0.93534	0.655000	0.94253	GGC		0.438	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		T	82665358	G	T	82665358	3	4	101	1	0	0	0	0	1	0	0	0	3358	1348	47	3	256	3	CHMP4C	8	82665358	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09		82665358	63698664	32	5415											
PKHD1L1	93035	genome.wustl.edu	37	8	110453043	110453043	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr8:110453043G>C	ENST00000378402.5	+	33	4165	c.4061G>C	c.(4060-4062)gGa>gCa	p.G1354A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1354	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G1356A(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGGTTTTGGATTCAGCACA	0.373										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	ovary(1)	8											172	164	167					8																	110453043		1834	4092	5926	110522219	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4061G>C	8.37:g.110453043G>C	ENSP00000367655:p.Gly1354Ala		110522219	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651727	0.67472	.	.	ENSG00000205038	ENST00000378402	T	0.79554	-1.28	6.17	6.17	0.99709	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.86864	2.845	0.46396	D	0.999028	D	0.89917	1.0	D	0.91635	0.999	D	0.91695	0.5369	10	0.72032	D	0.01	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	1354	Q86WI1	PKHL1_HUMAN	A	1354	ENSP00000367655:G1354A	ENSP00000367655:G1354A	G	+	2	0	PKHD1L1	110522219	1.000000	0.71417	0.970000	0.41538	0.163000	0.22366	6.582000	0.74049	2.941000	0.99782	0.655000	0.94253	GGA		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110453043	G	C	110453043	3	2	101	1	0	0	0	0	1	0	0	0	11972	1174	41	3	4191	3	PKHD1L1	8	110453043	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	27787685	110453043	35910979	33	5416											
EFR3A	23167	genome.wustl.edu	37	8	132958828	132958828	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr8:132958828C>T	ENST00000254624.5	+	4	539	c.314C>T	c.(313-315)gCa>gTa	p.A105V	EFR3A_ENST00000519656.1_Missense_Mutation_p.A69V|EFR3A_ENST00000334503.4_Missense_Mutation_p.A105V	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	105						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.A105V(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)			CATATGGTGGCAAAGCTGCTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	8											70	66	67					8																	132958828		2202	4300	6502	133028010	SO:0001583	missense	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.314C>T	8.37:g.132958828C>T	ENSP00000254624:p.Ala105Val		133028010	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836486	0.91117	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	M	0.61703	1.905	0.53005	D	0.99996	B	0.33345	0.409	B	0.38458	0.274	T	0.03750	-1.1007	10	0.48119	T	0.1	-17.2104	18.3132	0.90208	0.0:1.0:0.0:0.0	.	105	Q14156	EFR3A_HUMAN	V	105;69;105;105;69	ENSP00000254624:A105V;ENSP00000430512:A69V;ENSP00000334769:A105V;ENSP00000428086:A69V	ENSP00000254624:A105V	A	+	2	0	EFR3A	133028010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.805000	0.62561	2.572000	0.86782	0.655000	0.94253	GCA		0.393	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		T	132958828	C	T	132958828	3	4	101	1	0	0	0	0	1	0	0	0	4958	710	25	2	328	2	EFR3A	8	132958828	Missense_Mutation	SNP	C	TCGA-13-0894-01B-01W-0494-09	22505785	132958828	13405194	34	5417											
ZNF248	57209	genome.wustl.edu	37	10	38126603	38126603	+	Silent	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr10:38126603G>A	ENST00000395867.3	-	5	730	c.180C>T	c.(178-180)atC>atT	p.I60I	ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000374648.3_Silent_p.I60I|ZNF248_ENST00000357328.4_Silent_p.I60I	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I60I(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTCCTTGCTCGATCTTAAAGA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	10											106	93	97					10																	38126603		2203	4300	6503	38166609	SO:0001819	synonymous_variant	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.180C>T	10.37:g.38126603G>A			38166609	Q8NDV8|Q9UMP3	Silent	SNP	ENST00000395867.3	37	CCDS7194.1																																																																																				0.428	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		A	38126603	G	A	38126603	2	1	101	1	0	0	0	0	0	0	0	1	17793	1048	37	1		1	ZNF248	10	38126603	Silent	SNP	G	TCGA-13-0894-01B-01W-0494-09		38126603	97408144	35	5418											
ADAMTS14	140766	genome.wustl.edu	37	10	72503414	72503414	+	Missense_Mutation	SNP	G	G	A	rs149001845		TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr10:72503414G>A	ENST00000373207.1	+	13	2035	c.2035G>A	c.(2035-2037)Gtc>Atc	p.V679I	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.V682I	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	679	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V682I(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCCATACAGCGTCTGTGCGCG	0.657																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	10						G	ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	89	64	73		2035,2044	-1.6	0.4	10	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	679/1224,682/1227	72503414	2,13004	2203	4300	6503	72173420	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2035G>A	10.37:g.72503414G>A	ENSP00000362303:p.Val679Ile		72173420	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	4.882	0.163977	0.09287	4.54E-4	0.0	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.66099	-0.19;-0.19	4.92	-1.61	0.08399	.	0.250357	0.31636	N	0.007311	T	0.30854	0.0778	N	0.11789	0.175	0.24623	N	0.993664	B;B;B	0.20164	0.042;0.014;0.014	B;B;B	0.20577	0.03;0.012;0.014	T	0.32534	-0.9903	10	0.02654	T	1	.	6.274	0.20971	0.3347:0.2292:0.4361:0.0	.	612;679;682	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	I	682;679	ENSP00000362304:V682I;ENSP00000362303:V679I	ENSP00000362303:V679I	V	+	1	0	ADAMTS14	72173420	0.982000	0.34865	0.370000	0.25965	0.914000	0.54420	1.836000	0.39191	-0.524000	0.06400	0.655000	0.94253	GTC		0.657	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		A	72503414	G	A	72503414	3	1	101	1	0	0	0	0	1	0	0	0	259	1145	40	1	2094	1	ADAMTS14	10	72503414	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	34376811	72503414	63031333	36	5419											
PNLIPRP1	5407	genome.wustl.edu	37	10	118355832	118355832	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr10:118355832C>A	ENST00000528052.1	+	6	643	c.572C>A	c.(571-573)aCa>aAa	p.T191K	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T191K|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T191K			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	191					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.T191K(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGCAGGATTACAGGTAAGGCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	10											88	93	91					10																	118355832		2203	4300	6503	118345822	SO:0001583	missense	5407			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.572C>A	10.37:g.118355832C>A	ENSP00000433933:p.Thr191Lys		118345822	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890931	0.52014	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000530319;ENST00000527980;ENST00000534537	D;D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	5.1	3.24	0.37175	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98880	0.9621	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98005	1.0362	10	0.87932	D	0	-3.6402	10.9434	0.47287	0.0:0.8446:0.0:0.1554	.	191	P54315	LIPR1_HUMAN	K	191;191;191;146;118;191	ENSP00000436123:T191K;ENSP00000351695:T191K;ENSP00000433933:T191K;ENSP00000437263:T146K;ENSP00000433785:T118K;ENSP00000434159:T191K	ENSP00000351695:T191K	T	+	2	0	PNLIPRP1	118345822	1.000000	0.71417	0.818000	0.32626	0.673000	0.39480	6.543000	0.73874	0.649000	0.30751	0.655000	0.94253	ACA		0.582	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		A	118355832	C	A	118355832	3	1	101	1	0	0	0	0	1	0	0	0	12150	478	17	3	590	3	PNLIPRP1	10	118355832	Missense_Mutation	SNP	C	TCGA-13-0894-01B-01W-0494-09	45852418	118355832	17178915	37	5420											
ACAT1	38	genome.wustl.edu	37	11	108005924	108005924	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr11:108005924G>T	ENST00000265838.4	+	5	481	c.390G>T	c.(388-390)atG>atT	p.M130I	ACAT1_ENST00000299355.6_Missense_Mutation_p.M130I	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	130					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.M130I(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	CTTCAGGAATGAAAGCCATCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	11											129	119	123					11																	108005924		2201	4298	6499	107511134	SO:0001583	missense	38			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.390G>T	11.37:g.108005924G>T	ENSP00000265838:p.Met130Ile		107511134	B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	CCDS8339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.217725|5.217725	0.95104|0.95104	.|.	.|.	ENSG00000075239|ENSG00000075239	ENST00000528370|ENST00000265838;ENST00000299355;ENST00000527942	.|D;D;D	.|0.90444	.|-2.67;-2.67;-2.67	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.93455	.|0.7912	M|M	0.78344|0.78344	2.41|2.41	0.80722|0.80722	D|D	1|1	.|B;P	.|0.51240	.|0.247;0.943	.|B;P	.|0.50049	.|0.44;0.629	.|D	.|0.93812	.|0.7111	.|10	.|0.66056	.|D	.|0.02	-11.3771|-11.3771	19.7534|19.7534	0.96277|0.96277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|130;130	.|P24752;G3XAB4	.|THIL_HUMAN;.	X|I	66|130;130;40	.|ENSP00000265838:M130I;ENSP00000299355:M130I;ENSP00000433568:M40I	.|ENSP00000265838:M130I	E|M	+|+	1|3	0|0	ACAT1|ACAT1	107511134|107511134	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.515000|9.515000	0.98015|0.98015	2.673000|2.673000	0.90976|0.90976	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.383	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		T	108005924	G	T	108005924	3	4	101	1	0	0	0	0	1	0	0	0	121	1290	45	3	408	3	ACAT1	11	108005924	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09		108005924	27000592	38	5421			1	4		2	2	27	G		4.703226e-05
ACAT1	38	genome.wustl.edu	37	11	108005950	108005950	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr11:108005950G>A	ENST00000265838.4	+	5	507	c.416G>A	c.(415-417)aGt>aAt	p.S139N	ACAT1_ENST00000299355.6_Missense_Mutation_p.S139N	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	139					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.S139N(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GCCTCTCAAAGTCTTATGTGT	0.373																																																1	Substitution - Missense(1)	ovary(1)	11											112	104	107					11																	108005950		2201	4298	6499	107511160	SO:0001583	missense	38			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.416G>A	11.37:g.108005950G>A	ENSP00000265838:p.Ser139Asn		107511160	B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	7.057	0.565597	0.13560	.	.	ENSG00000075239	ENST00000265838;ENST00000299355;ENST00000527942	D;T;D	0.94758	-3.51;0.89;-2.39	5.66	-1.15	0.09709	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.170130	0.64402	N	0.000007	D	0.90287	0.6962	L	0.49571	1.57	0.58432	D	0.999995	B;B	0.10296	0.0;0.003	B;B	0.12837	0.003;0.008	T	0.78534	-0.2167	10	0.22706	T	0.39	-11.1278	13.2563	0.60081	0.3634:0.0:0.6366:0.0	.	139;139	P24752;G3XAB4	THIL_HUMAN;.	N	139;139;49	ENSP00000265838:S139N;ENSP00000299355:S139N;ENSP00000433568:S49N	ENSP00000265838:S139N	S	+	2	0	ACAT1	107511160	0.973000	0.33851	0.957000	0.39632	0.979000	0.70002	1.033000	0.30191	-0.399000	0.07668	-0.300000	0.09419	AGT		0.373	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		A	108005950	G	A	108005950	3	1	101	1	0	0	0	0	1	0	0	0	121	1029	36	2	434	2	ACAT1	11	108005950	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	26	108005950	27000566	39	5422			1	4		2	2	27	G		4.703226e-05
SYT10	341359	genome.wustl.edu	37	12	33579432	33579432	+	Splice_Site	SNP	T	T	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr12:33579432T>C	ENST00000228567.3	-	2	448		c.e2-2		SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_Splice_Site	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X						regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.?(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGAAATATCTGGAAAAATTA	0.333																																																1	Unknown(1)	ovary(1)	12											29	29	29					12																	33579432		2203	4299	6502	33470699	SO:0001630	splice_region_variant	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.152-2A>G	12.37:g.33579432T>C			33470699	Q495U2	Splice_Site	SNP	ENST00000228567.3	37	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.097153	0.56075	.	.	ENSG00000110975	ENST00000228567	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.889	0.58061	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYT10	33470699	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.994000	0.76251	1.990000	0.58119	0.533000	0.62120	.		0.333	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	Intron	C	33579432	T	C	33579432	5	2	101	1	0	0	0	0	0	0	1	0	15466	1594	55	4	1445	4	SYT10	12	33579432	Splice_Site	SNP	T	TCGA-13-0894-01B-01W-0494-09		33579432	100272463	40	5423											
R3HDM2	22864	genome.wustl.edu	37	12	57651826	57651826	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr12:57651826A>T	ENST00000347140.3	-	21	2744	c.2354T>A	c.(2353-2355)cTc>cAc	p.L785H	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000403821.2_Missense_Mutation_p.L819H|R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000402412.1_Missense_Mutation_p.L799H|R3HDM2_ENST00000441731.2_Missense_Mutation_p.L480H|R3HDM2_ENST00000358907.2_Missense_Mutation_p.L785H|R3HDM2_ENST00000413953.2_Missense_Mutation_p.L512H			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	785						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L446H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CAGGGGACTGAGTCCTGTGCA	0.587																																																1	Substitution - Missense(1)	ovary(1)	12											95	65	75					12																	57651826		2203	4300	6503	55938093	SO:0001583	missense	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2354T>A	12.37:g.57651826A>T	ENSP00000317903:p.Leu785His		55938093	Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892536	0.72524	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000548161	T;T;T;T;T;T;T;T	0.51325	0.73;0.71;1.7;1.7;1.7;0.72;1.3;1.7	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	L	0.31065	0.9	0.43734	D	0.99622	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.997;0.997;0.995;0.998	T	0.44251	-0.9340	10	0.15499	T	0.54	-12.1242	14.4076	0.67093	1.0:0.0:0.0:0.0	.	819;799;785;512	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	H	512;512;785;799;785;480;550;819;174	ENSP00000409146:L512H;ENSP00000377400:L512H;ENSP00000317903:L785H;ENSP00000385839:L799H;ENSP00000351784:L785H;ENSP00000408536:L480H;ENSP00000394676:L550H;ENSP00000385169:L819H	ENSP00000317903:L785H	L	-	2	0	R3HDM2	55938093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.312000	0.89976	2.299000	0.77371	0.533000	0.62120	CTC		0.587	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		T	57651826	A	T	57651826	3	4	101	1	0	0	0	0	1	0	0	0	12891	304	11	5	592	5	R3HDM2	12	57651826	Missense_Mutation	SNP	A	TCGA-13-0894-01B-01W-0494-09	24072394	57651826	76200069	41	5424											
OR11H6	122748	genome.wustl.edu	37	14	20691877	20691877	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr14:20691877T>G	ENST00000315519.2	+	1	87	c.9T>G	c.(7-9)ttT>ttG	p.F3L		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F3L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		aaatgttctttattattCATT	0.373																																																1	Substitution - Missense(1)	ovary(1)	14											60	65	63					14																	20691877		2202	4299	6501	19761717	SO:0001583	missense	122748				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.9T>G	14.37:g.20691877T>G	ENSP00000319071:p.Phe3Leu		19761717	Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	t	11.59	1.685176	0.29872	.	.	ENSG00000176219	ENST00000315519	T	0.00522	6.84	4.75	-9.08	0.00720	.	.	.	.	.	T	0.00178	0.0005	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43877	-0.9364	9	0.10377	T	0.69	.	0.4228	0.00459	0.3199:0.1371:0.219:0.324	.	3	Q8NGC7	O11H6_HUMAN	L	3	ENSP00000319071:F3L	ENSP00000319071:F3L	F	+	3	2	OR11H6	19761717	0.009000	0.17119	0.000000	0.03702	0.102000	0.19082	0.489000	0.22387	-1.638000	0.01529	0.363000	0.22086	TTT		0.373	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			G	20691877	T	G	20691877	3	3	101	1	0	0	0	0	1	0	0	0	10929	1751	61	5	11	5	OR11H6	14	20691877	Missense_Mutation	SNP	T	TCGA-13-0894-01B-01W-0494-09		20691877	86657663	42	5425											
PPP2R3C	55012	genome.wustl.edu	37	14	35564333	35564333	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr14:35564333G>A	ENST00000261475.5	-	10	1249	c.896C>T	c.(895-897)tCa>tTa	p.S299L		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	299	EF-hand 1.				activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S299L(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TCCATAGCGTGAGAGTTCTTC	0.388																																																1	Substitution - Missense(1)	ovary(1)	14											131	119	123					14																	35564333		2203	4300	6503	34634084	SO:0001583	missense	55012			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	17485	protein-coding gene	gene with protein product		615902	"chromosome 14 open reading frame 10", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.896C>T	14.37:g.35564333G>A	ENSP00000261475:p.Ser299Leu		34634084	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216085	0.79352	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	T;T	0.66815	-0.18;-0.23	5.25	5.25	0.73442	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	L	0.41492	1.28	0.80722	D	1	B	0.23128	0.08	B	0.20767	0.031	T	0.54139	-0.8338	10	0.19147	T	0.46	-4.6698	19.203	0.93719	0.0:0.0:1.0:0.0	.	299	Q969Q6	P2R3C_HUMAN	L	299;20	ENSP00000261475:S299L;ENSP00000452173:S20L	ENSP00000261475:S299L	S	-	2	0	PPP2R3C	34634084	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.751000	0.98889	2.611000	0.88343	0.655000	0.94253	TCA		0.388	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		A	35564333	G	A	35564333	3	1	101	1	0	0	0	0	1	0	0	0	12393	1294	45	2	481	2	PPP2R3C	14	35564333	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	14872456	35564333	71785207	43	5426											
C14orf39	317761	genome.wustl.edu	37	14	60903693	60903693	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr14:60903693G>A	ENST00000321731.3	-	18	1793	c.1634C>T	c.(1633-1635)aCa>aTa	p.T545I		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	545					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.T545I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AGCTCCAAATGTATGAGTTGA	0.333																																																1	Substitution - Missense(1)	ovary(1)	14											149	165	160					14																	60903693		2203	4296	6499	59973446	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1634C>T	14.37:g.60903693G>A	ENSP00000324920:p.Thr545Ile		59973446	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040742	0.35989	.	.	ENSG00000179008	ENST00000321731	T	0.25250	1.81	5.17	4.22	0.49857	.	0.601838	0.15593	N	0.254310	T	0.22513	0.0543	L	0.36672	1.1	0.27726	N	0.944972	P	0.43701	0.815	P	0.45681	0.49	T	0.03139	-1.1068	10	0.14252	T	0.57	-1.3508	9.5613	0.39371	0.0:0.1537:0.6874:0.1589	.	545	Q8N1H7	S6OS1_HUMAN	I	545	ENSP00000324920:T545I	ENSP00000324920:T545I	T	-	2	0	C14orf39	59973446	0.990000	0.36364	1.000000	0.80357	0.990000	0.78478	1.886000	0.39688	2.408000	0.81797	0.557000	0.71058	ACA		0.333	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		A	60903693	G	A	60903693	3	1	101	1	0	0	0	0	1	0	0	0	1772	1377	48	2	133	2	C14orf39	14	60903693	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	25339360	60903693	46445847	44	5427											
CGNL1	84952	genome.wustl.edu	37	15	57731660	57731660	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr15:57731660G>A	ENST00000281282.5	+	2	1541	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	488	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.G488D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCCTCCCTTGGTGCACAGAGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	15											67	69	68					15																	57731660		2192	4292	6484	55518952	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1463G>A	15.37:g.57731660G>A	ENSP00000281282:p.Gly488Asp		55518952	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339023	0.11069	.	.	ENSG00000128849	ENST00000281282	T	0.75589	-0.95	5.63	1.43	0.22495	.	1.685090	0.03447	N	0.210115	T	0.53417	0.1795	N	0.08118	0	0.09310	N	1	B	0.28552	0.215	B	0.23275	0.045	T	0.45862	-0.9232	10	0.35671	T	0.21	-4.656	4.9639	0.14080	0.121:0.626:0.1205:0.1325	.	488	Q0VF96	CGNL1_HUMAN	D	488	ENSP00000281282:G488D	ENSP00000281282:G488D	G	+	2	0	CGNL1	55518952	0.009000	0.17119	0.003000	0.11579	0.027000	0.11550	0.925000	0.28791	0.324000	0.23333	-0.825000	0.03093	GGT		0.537	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		A	57731660	G	A	57731660	3	1	101	1	0	0	0	0	1	0	0	0	3304	1261	44	2	1465	2	CGNL1	15	57731660	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09		57731660	44799732	45	5428											
TP53	7157	genome.wustl.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)	CGGATAAGATGCTGAGGAGGG	0.557		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"	85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	17											95	85	88					17																	7578272		2203	4300	6503	7518997	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.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr		7518997	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	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	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	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578272	G	A	7578272	3	1	101	1	0	0	0	0	1	0	0	0	16381	1319	46	2	717	2	TP53	17	7578272	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09		7578272	73616938	46	5429											
KCNJ12	3768	genome.wustl.edu	37	17	21319721	21319721	+	Missense_Mutation	SNP	G	G	A	rs138394714	byFrequency	TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr17:21319721G>A	ENST00000583088.1	+	3	1962	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R356H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	356					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R356H(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCTACGCCCCGCTGCAGTGCG	0.577										Prostate(3;0.18)																																						1	Substitution - Missense(1)	ovary(1)	17						G	HIS/ARG	14,4392	17.9+/-39.9	0,14,2189	110	108	109		1067	5.7	1	17	dbSNP_134	109	3,8597	2.2+/-6.3	0,3,4297	yes	missense	KCNJ12	NM_021012.4	29	0,17,6486	AA,AG,GG		0.0349,0.3177,0.1307	benign	356/434	21319721	17,12989	2203	4300	6503	21260314	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1067G>A	17.37:g.21319721G>A	ENSP00000463778:p.Arg356His		21260314	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	7.237	0.600460	0.13939	0.003177	3.49E-4	ENSG00000184185	ENST00000331718	D	0.94000	-3.33	5.65	5.65	0.86999	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.111349	0.64402	D	0.000005	D	0.86422	0.5929	N	0.11131	0.1	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.81169	-0.1055	10	0.14252	T	0.57	.	19.713	0.96103	0.0:0.0:1.0:0.0	.	356	Q14500	IRK12_HUMAN	H	356	ENSP00000328150:R356H	ENSP00000328150:R356H	R	+	2	0	KCNJ12	21260314	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	5.475000	0.66787	2.667000	0.90743	0.643000	0.83706	CGC		0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		A	21319721	G	A	21319721	3	1	101	1	0	0	0	0	1	0	0	0	8046	1087	38	1	1069	1	KCNJ12	17	21319721	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	13741449	21319721	59875489	47	5430											
ATAD5	79915	genome.wustl.edu	37	17	29219769	29219769	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr17:29219769T>G	ENST00000321990.4	+	20	4781	c.4403T>G	c.(4402-4404)aTt>aGt	p.I1468S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1468					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.I1468S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTTAAGAACATTTTTTCCCCA	0.323																																																1	Substitution - Missense(1)	ovary(1)	17											154	152	153					17																	29219769		2203	4300	6503	26243895	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4403T>G	17.37:g.29219769T>G	ENSP00000313171:p.Ile1468Ser		26243895	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849216	0.71603	.	.	ENSG00000176208	ENST00000321990	T	0.17691	2.26	4.84	4.84	0.62591	.	0.412785	0.27531	N	0.018952	T	0.40040	0.1101	M	0.66939	2.045	0.49687	D	0.999814	D	0.89917	1.0	D	0.74023	0.982	T	0.30909	-0.9962	10	0.87932	D	0	.	14.733	0.69397	0.0:0.0:0.0:1.0	.	1468	Q96QE3	ATAD5_HUMAN	S	1468	ENSP00000313171:I1468S	ENSP00000313171:I1468S	I	+	2	0	ATAD5	26243895	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	5.546000	0.67243	1.939000	0.56221	0.260000	0.18958	ATT		0.323	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		G	29219769	T	G	29219769	3	3	101	1	0	0	0	0	1	0	0	0	1076	1493	52	5	4481	5	ATAD5	17	29219769	Missense_Mutation	SNP	T	TCGA-13-0894-01B-01W-0494-09	7900048	29219769	51975441	48	5431											
SAFB	6294	genome.wustl.edu	37	19	5641841	5641841	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr19:5641841G>A	ENST00000292123.5	+	4	537	c.430G>A	c.(430-432)Gtt>Att	p.V144I	SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_De_novo_Start_OutOfFrame|SAFB_ENST00000592224.1_Missense_Mutation_p.V144I|SAFB_ENST00000588852.1_Missense_Mutation_p.V144I|SAFB_ENST00000538656.1_Intron	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	144					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V144I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAATGGAAGCGTTGCAGATTG	0.483																																					Colon(88;338 1345 6184 8214 20897)											1	Substitution - Missense(1)	ovary(1)	19											158	155	156					19																	5641841		2203	4300	6503	5592841	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.430G>A	19.37:g.5641841G>A	ENSP00000292123:p.Val144Ile		5592841	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103163	0.20632	.	.	ENSG00000160633	ENST00000292123	T	0.10288	2.89	5.7	4.67	0.58626	.	0.122641	0.36303	N	0.002678	T	0.08447	0.0210	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B	0.32365	0.367;0.013;0.367;0.236;0.367	B;B;B;B;B	0.20577	0.03;0.002;0.03;0.03;0.03	T	0.19289	-1.0310	10	0.40728	T	0.16	-17.463	13.0308	0.58840	0.0745:0.0:0.9255:0.0	.	144;144;144;144;144	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	I	144	ENSP00000292123:V144I	ENSP00000292123:V144I	V	+	1	0	SAFB	5592841	0.826000	0.29277	0.076000	0.20297	0.234000	0.25298	2.253000	0.43205	1.411000	0.46957	0.557000	0.71058	GTT		0.483	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			A	5641841	G	A	5641841	3	1	101	1	0	0	0	0	1	0	0	0	13809	1145	40	1	444	1	SAFB	19	5641841	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09		5641841	53487142	49	5432											
ZNF561	93134	genome.wustl.edu	37	19	9721465	9721465	+	Missense_Mutation	SNP	C	C	G	rs146348381	byFrequency	TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr19:9721465C>G	ENST00000302851.3	-	6	1235	c.872G>C	c.(871-873)aGa>aCa	p.R291T	ZNF561_ENST00000424629.1_Missense_Mutation_p.R222T|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000354661.4_Missense_Mutation_p.R155T|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R222T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TGAGGAATTTCTAAAGGATCT	0.363																																																1	Substitution - Missense(1)	ovary(1)	19											100	99	99					19																	9721465		2203	4300	6503	9582465	SO:0001583	missense	93134			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.872G>C	19.37:g.9721465C>G	ENSP00000303915:p.Arg291Thr		9582465	B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	C	8.148	0.786691	0.16189	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.16073	2.37;2.37;2.37	1.1	-2.19	0.07015	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10852	0.0265	N	0.02103	-0.685	0.09310	N	1	D	0.59357	0.985	D	0.72338	0.977	T	0.10359	-1.0633	9	0.15499	T	0.54	.	3.8619	0.08999	0.0:0.4848:0.2103:0.3049	.	291	Q8N587	ZN561_HUMAN	T	222;291;155	ENSP00000393074:R222T;ENSP00000303915:R291T;ENSP00000346687:R155T	ENSP00000303915:R291T	R	-	2	0	ZNF561	9582465	0.000000	0.05858	0.000000	0.03702	0.764000	0.43329	-1.747000	0.01827	-1.153000	0.02829	0.298000	0.19748	AGA		0.363	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		G	9721465	C	G	9721465	3	3	101	1	0	0	0	0	1	0	0	0	17992	913	32	3	592	3	ZNF561	19	9721465	Missense_Mutation	SNP	C	TCGA-13-0894-01B-01W-0494-09	4079624	9721465	49407518	50	5433											
ILVBL	10994	genome.wustl.edu	37	19	15233783	15233783	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr19:15233783A>T	ENST00000263383.3	-	5	663	c.524T>A	c.(523-525)tTt>tAt	p.F175Y	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.F68Y|AC003956.1_ENST00000598450.1_RNA	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	175						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.F175Y(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGACACACAAAACTTACAGAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											67	71	70					19																	15233783		2203	4300	6503	15094783	SO:0001583	missense	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.524T>A	19.37:g.15233783A>T	ENSP00000263383:p.Phe175Tyr		15094783	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	A	7.213	0.595898	0.13875	.	.	ENSG00000105135	ENST00000263383;ENST00000527093	T	0.26373	1.74	4.23	4.23	0.50019	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.195954	0.56097	D	0.000034	T	0.08582	0.0213	N	0.01761	-0.735	0.47153	D	0.999331	B	0.06786	0.001	B	0.11329	0.006	T	0.17653	-1.0362	10	0.21014	T	0.42	-18.0133	6.2546	0.20867	0.8883:0.0:0.1117:0.0	.	175	A1L0T0	ILVBL_HUMAN	Y	175	ENSP00000263383:F175Y	ENSP00000263383:F175Y	F	-	2	0	ILVBL	15094783	1.000000	0.71417	0.887000	0.34795	0.187000	0.23431	5.822000	0.69265	1.788000	0.52465	0.379000	0.24179	TTT		0.622	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		T	15233783	A	T	15233783	3	4	101	1	0	0	0	0	1	0	0	0	7715	14	1	5	1422	5	ILVBL	19	15233783	Missense_Mutation	SNP	A	TCGA-13-0894-01B-01W-0494-09	5512318	15233783	43895200	51	5434											
PEG3	5178	genome.wustl.edu	37	19	57328633	57328633	+	Missense_Mutation	SNP	G	G	A	rs146466276		TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr19:57328633G>A	ENST00000326441.9	-	10	1540	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R267C|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R269C|PEG3_ENST00000423103.2_Missense_Mutation_p.R393C|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	393					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R393C(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAATGATAGCGCCTCTTTCTT	0.448																																																1	Substitution - Missense(1)	ovary(1)	19						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,,,CYS/ARG,	0,4406		0,0,2203	106	110	109		1177,799,1177,805,,,1177,	3.3	1	19	dbSNP_134	109	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,missense,missense,intron,intron,missense,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	180,180,180,180,,,180,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging,	393/1589,267/1463,393/1589,269/1465,,,393/1589,	57328633	2,13004	2203	4300	6503	62020445	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1177C>T	19.37:g.57328633G>A	ENSP00000326581:p.Arg393Cys		62020445	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.248251	0.39697	0.0	2.33E-4	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02682	4.2;4.2	4.35	3.29	0.37713	.	0.000000	0.45361	D	0.000378	T	0.06508	0.0167	L	0.34521	1.04	.	.	.	D;D;P	0.76494	0.999;0.999;0.626	P;P;B	0.59487	0.858;0.764;0.085	T	0.40794	-0.9544	9	0.44086	T	0.13	-26.0019	12.5874	0.56424	0.0:0.1688:0.8312:0.0	.	269;393;328	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	C	393;393;363	ENSP00000326581:R393C;ENSP00000403051:R393C	ENSP00000292074:R363C	R	-	1	0	ZIM2	62020445	0.527000	0.26306	0.999000	0.59377	0.938000	0.57974	3.678000	0.54627	1.396000	0.46663	0.655000	0.94253	CGC		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			A	57328633	G	A	57328633	3	1	101	1	0	0	0	0	1	0	0	0	11720	1087	38	1	3593	1	PEG3	19	57328633	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	42094850	57328633	1800350	52	5435											
RASSF2	9770	genome.wustl.edu	37	20	4776554	4776554	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr20:4776554G>T	ENST00000379400.3	-	5	389	c.194C>A	c.(193-195)cCc>cAc	p.P65H	RASSF2_ENST00000379376.2_Missense_Mutation_p.P65H|RASSF2_ENST00000478553.1_5'Flank	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	65					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P65H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CAGGCGAATGGGCCGGCGCAG	0.597																																					Melanoma(158;1891 3343 50738)											1	Substitution - Missense(1)	ovary(1)	20											93	90	91					20																	4776554		2203	4300	6503	4724554	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.194C>A	20.37:g.4776554G>T	ENSP00000368710:p.Pro65His		4724554	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835299	0.91117	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.35421	1.31;1.31	5.13	5.13	0.70059	.	0.050816	0.85682	D	0.000000	T	0.66356	0.2781	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72523	-0.4267	10	0.87932	D	0	.	17.3318	0.87267	0.0:0.0:1.0:0.0	.	65	P50749	RASF2_HUMAN	H	65	ENSP00000368710:P65H;ENSP00000368684:P65H	ENSP00000368684:P65H	P	-	2	0	RASSF2	4724554	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.275000	0.95738	2.665000	0.90641	0.563000	0.77884	CCC		0.597	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		T	4776554	G	T	4776554	3	4	101	1	0	0	0	0	1	0	0	0	13089	1232	43	3	818	3	RASSF2	20	4776554	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09		4776554	58248966	53	5436											
PPARA	5465	genome.wustl.edu	37	22	46594453	46594453	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chr22:46594453G>C	ENST00000396000.2	+	3	438	c.173G>C	c.(172-174)gGa>gCa	p.G58A	PPARA_ENST00000402126.1_Missense_Mutation_p.G58A|PPARA_ENST00000407236.1_Missense_Mutation_p.G58A|PPARA_ENST00000262735.5_Missense_Mutation_p.G58A|PPARA_ENST00000434345.2_Missense_Mutation_p.G58A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	58					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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)|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 repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.G58A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CAGTATTTAGGAAGCTGTCCT	0.443																																																1	Substitution - Missense(1)	ovary(1)	22											80	85	83					22																	46594453		2203	4300	6503	44973117	SO:0001583	missense	5465			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.173G>C	22.37:g.46594453G>C	ENSP00000379322:p.Gly58Ala		44973117	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737267	0.30774	.	.	ENSG00000186951	ENST00000415785;ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D;D	0.96913	-3.3;-3.3;-4.17;-3.3;-3.3;-3.1	5.7	5.7	0.88788	.	0.132588	0.51477	D	0.000084	D	0.94644	0.8273	M	0.69823	2.125	0.43868	D	0.996472	B;B	0.29481	0.245;0.245	B;B	0.27500	0.08;0.08	D	0.92663	0.6143	10	0.08599	T	0.76	.	16.9911	0.86354	0.0:0.0:1.0:0.0	.	58;58	F1D8S4;Q07869	.;PPARA_HUMAN	A	58	ENSP00000379322:G58A;ENSP00000262735:G58A;ENSP00000414752:G58A;ENSP00000385523:G58A;ENSP00000385246:G58A;ENSP00000408149:G58A	ENSP00000262735:G58A	G	+	2	0	PPARA	44973117	1.000000	0.71417	0.190000	0.23270	0.093000	0.18481	5.833000	0.69349	2.687000	0.91594	0.655000	0.94253	GGA		0.443	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		C	46594453	G	C	46594453	3	2	101	1	0	0	0	0	1	0	0	0	12297	1174	41	3	175	3	PPARA	22	46594453	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09		46594453	4710113	54	5437											
TLR8	51311	genome.wustl.edu	37	X	12938695	12938695	+	Silent	SNP	G	G	T			TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chrX:12938695G>T	ENST00000218032.6	+	2	1623	c.1536G>T	c.(1534-1536)ctG>ctT	p.L512L	TLR8_ENST00000311912.5_Silent_p.L530L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	512					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.L530L(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTTTAAATCTGTCTGCAAATA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	X											50	45	47					X																	12938695		2203	4300	6503	12848616	SO:0001819	synonymous_variant	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1536G>T	X.37:g.12938695G>T			12848616	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	CCDS14152.1																																																																																				0.358	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		T	12938695	G	T	12938695	2	4	101	1	0	0	0	0	0	0	0	1	15957	1364	48	3		3	TLR8	23	12938695	Silent	SNP	G	TCGA-13-0894-01B-01W-0494-09		12938695	142331865	55	5438											
SLC9A7	84679	genome.wustl.edu	37	X	46466493	46466493	+	Missense_Mutation	SNP	G	G	A	rs371727694		TCGA-13-0894-01B-01W-0494-09	TCGA-13-0894-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	eb57990e-702f-4fac-9ef5-7447ecb45cec	5781f8d8-a30f-4eee-acc8-c513e7872d10	g.chrX:46466493G>A	ENST00000328306.4	-	17	2097	c.2072C>T	c.(2071-2073)aCg>aTg	p.T691M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	691					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.T691M(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GCTGCTCTTCGTTCTCCGGCT	0.597																																					Pancreas(118;454 1696 1930 13865 39976)											1	Substitution - Missense(1)	ovary(1)	X						A	MET/THR	1,3834		0,1,1631,571	57	47	50		2072	1	0.3	X		50	0,6728		0,0,2428,1872	no	missense	SLC9A7	NM_032591.1	81	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	691/726	46466493	1,10562	2203	4300	6503	46351437	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.2072C>T	X.37:g.46466493G>A	ENSP00000330320:p.Thr691Met		46351437	O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	g	0.143	-1.099783	0.01843	2.61E-4	0.0	ENSG00000065923	ENST00000328306	T	0.31510	1.49	4.73	1.01	0.19927	.	0.439260	0.19813	N	0.105486	T	0.14356	0.0347	N	0.08118	0	0.31406	N	0.676096	B	0.19583	0.037	B	0.14578	0.011	T	0.10965	-1.0607	10	0.38643	T	0.18	.	9.3883	0.38356	0.3035:0.0:0.6965:0.0	.	691	Q96T83	SL9A7_HUMAN	M	691	ENSP00000330320:T691M	ENSP00000330320:T691M	T	-	2	0	SLC9A7	46351437	0.999000	0.42202	0.325000	0.25375	0.117000	0.20001	2.011000	0.40922	-0.036000	0.13669	-0.864000	0.03007	ACG		0.597	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		A	46466493	G	A	46466493	3	1	101	1	0	0	0	0	1	0	0	0	14722	1145	40	1	109	1	SLC9A7	23	46466493	Missense_Mutation	SNP	G	TCGA-13-0894-01B-01W-0494-09	33527798	46466493	108804067	56	5439											
CROCC	9696	genome.wustl.edu	37	1	17295772	17295772	+	Silent	SNP	G	G	A	rs201557362	byFrequency	TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr1:17295772G>A	ENST00000375541.5	+	32	5307	c.5238G>A	c.(5236-5238)cgG>cgA	p.R1746R		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.R1746R(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAGCACCCGGGACAAGAACC	0.667																																																1	Substitution - coding silent(1)	ovary(1)	1											27	29	28					1																	17295772		2203	4300	6503	17168359	SO:0001819	synonymous_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5238G>A	1.37:g.17295772G>A			17168359		Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																				0.667	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		A	17295772	G	A	17295772	2	1	102	1	0	0	0	0	0	0	0	1	3893	1219	43	2		2	CROCC	1	17295772	Silent	SNP	G	TCGA-13-0897-01A-01W-0421-09		17295772	231954849	1	5440											
COL16A1	1307	genome.wustl.edu	37	1	32146505	32146505	+	Splice_Site	SNP	C	C	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr1:32146505C>T	ENST00000373672.3	-	39	3127		c.e39+1		COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.?(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTGGAACTCACCTTCTCTCCT	0.607																																					Colon(143;498 1786 21362 25193 36625)											1	Unknown(1)	ovary(1)	1											97	106	103					1																	32146505		1958	4147	6105	31919092	SO:0001630	splice_region_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2610+1G>A	1.37:g.32146505C>T			31919092	Q16593|Q59F89|Q71RG9	Splice_Site	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.811068	0.32053	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9126	0.79482	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL16A1	31919092	1.000000	0.71417	0.998000	0.56505	0.162000	0.22319	4.336000	0.59304	2.566000	0.86566	0.643000	0.83706	.		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Intron	T	32146505	C	T	32146505	5	4	102	1	0	0	0	0	0	0	1	0	3673	521	18	2	2335	2	COL16A1	1	32146505	Splice_Site	SNP	C	TCGA-13-0897-01A-01W-0421-09	14850733	32146505	217104116	2	5441											
C1orf190	541468	genome.wustl.edu	37	1	46669204	46669204	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr1:46669204G>C	ENST00000371980.3	+	1	199	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	POMGNT1_ENST00000396420.3_Intron|POMGNT1_ENST00000371992.1_Intron	NM_001013615.2	NP_001013633.1	Q96LR2	LURA1_HUMAN	leucine rich adaptor protein 1	36					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)		p.E36Q(1)									AGGCGAGTGTGAGCTGGGAAC	0.672																																																1	Substitution - Missense(1)	ovary(1)	1											36	39	38					1																	46669204		2203	4300	6503	46441791	SO:0001583	missense	541468			AK057892	CCDS30703.1	1p34.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000171357	ENSG00000171357			32327	protein-coding gene	gene with protein product	"leucine repeat adaptor protein 35a"		"chromosome 1 open reading frame 190"	C1orf190		21048106	Standard	NM_001013615		Approved	FLJ25163, LRAP35a	uc010oma.2	Q96LR2	OTTHUMG00000007605	ENST00000371980.3:c.106G>C	1.37:g.46669204G>C	ENSP00000361048:p.Glu36Gln		46441791		Missense_Mutation	SNP	ENST00000371980.3	37	CCDS30703.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498156	0.44455	.	.	ENSG00000171357	ENST00000371980	.	.	.	4.91	4.91	0.64330	.	2.088720	0.01480	N	0.016626	T	0.45994	0.1370	N	0.22421	0.69	0.27274	N	0.958278	P	0.48503	0.911	P	0.49999	0.628	T	0.51498	-0.8698	9	0.19590	T	0.45	-14.7556	15.6296	0.76893	0.0:0.0:1.0:0.0	.	36	Q96LR2	LP35A_HUMAN	Q	36	.	ENSP00000361048:E36Q	E	+	1	0	C1orf190	46441791	1.000000	0.71417	0.974000	0.42286	0.236000	0.25371	4.154000	0.58125	2.542000	0.85734	0.563000	0.77884	GAG		0.672	LURAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020154.1	NM_001013615		C	46669204	G	C	46669204	3	2	102	1	0	0	0	0	1	0	0	0	2023	1291	45	3	108	3	C1orf190	1	46669204	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	14522699	46669204	202581417	3	5442											
FAF1	11124	genome.wustl.edu	37	1	50941337	50941337	+	Silent	SNP	G	G	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr1:50941337G>C	ENST00000396153.2	-	18	2119	c.1668C>G	c.(1666-1668)tcC>tcG	p.S556S	FAF1_ENST00000371778.4_Silent_p.S556S|FAF1_ENST00000545823.1_Silent_p.S314S	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	556					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.S556S(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTTGCTCTAAGGACAGCCGGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	1											32	32	32					1																	50941337		2203	4300	6503	50713925	SO:0001819	synonymous_variant	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1668C>G	1.37:g.50941337G>C			50713925	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	37	CCDS554.1																																																																																				0.542	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		C	50941337	G	C	50941337	2	2	102	1	0	0	0	0	0	0	0	1	5369	987	35	3		3	FAF1	1	50941337	Silent	SNP	G	TCGA-13-0897-01A-01W-0421-09	4272133	50941337	198309284	4	5443											
PGM1	5236	genome.wustl.edu	37	1	64102039	64102039	+	Silent	SNP	C	C	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr1:64102039C>T	ENST00000371084.3	+	6	1221	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	PGM1_ENST00000371083.4_Silent_p.P354P|PGM1_ENST00000540265.1_Silent_p.P139P	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	336					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)	p.P336P(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGAGCATGCCCACGAGTGGTG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	1											134	117	123					1																	64102039		2203	4300	6503	63874627	SO:0001819	synonymous_variant	5236			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1008C>T	1.37:g.64102039C>T			63874627	B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Silent	SNP	ENST00000371084.3	37	CCDS625.1																																																																																				0.562	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		T	64102039	C	T	64102039	2	4	102	1	0	0	0	0	0	0	0	1	11797	581	21	2		2	PGM1	1	64102039	Silent	SNP	C	TCGA-13-0897-01A-01W-0421-09	13160702	64102039	185148582	5	5444											
SLC27A3	11000	genome.wustl.edu	37	1	153750720	153750720	+	Silent	SNP	C	C	A	rs146826727		TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr1:153750720C>A	ENST00000368661.3	+	5	1451	c.1386C>A	c.(1384-1386)cgC>cgA	p.R462R	SLC27A3_ENST00000271857.2_Silent_p.R543R|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	462					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)	p.R462R(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGTGCGGCGCTTCGGGCCCC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	1											56	63	61					1																	153750720		2203	4300	6503	152017344	SO:0001819	synonymous_variant	11000			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1386C>A	1.37:g.153750720C>A			152017344	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365838	0.24684	.	.	ENSG00000143554	ENST00000458027	.	.	.	5.13	1.96	0.26148	.	.	.	.	.	T	0.38241	0.1033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23691	-1.0181	4	.	.	.	-22.2156	6.1032	0.20059	0.4413:0.4669:0.0:0.0917	.	.	.	.	D	167	.	.	A	+	2	0	SLC27A3	152017344	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.761000	0.38440	0.723000	0.32274	0.462000	0.41574	GCT		0.637	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		A	153750720	C	A	153750720	2	1	102	1	0	0	0	0	0	0	0	1	14530	784	28	3		3	SLC27A3	1	153750720	Silent	SNP	C	TCGA-13-0897-01A-01W-0421-09	89648681	153750720	95499901	6	5445											
PPP1R15B	84919	genome.wustl.edu	37	1	204380342	204380342	+	Silent	SNP	C	C	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr1:204380342C>A	ENST00000367188.4	-	1	577	c.198G>T	c.(196-198)ctG>ctT	p.L66L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	66					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.L66L(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GCTGGGAGAGCAGTTTCGTCC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	1											67	72	71					1																	204380342		2203	4300	6503	202646965	SO:0001819	synonymous_variant	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.198G>T	1.37:g.204380342C>A			202646965	Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	ENST00000367188.4	37	CCDS1445.1																																																																																				0.562	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		A	204380342	C	A	204380342	2	1	102	1	0	0	0	0	0	0	0	1	12367	697	25	3		3	PPP1R15B	1	204380342	Silent	SNP	C	TCGA-13-0897-01A-01W-0421-09	50629622	204380342	44870279	7	5446											
OR2L8	391190	genome.wustl.edu	37	1	248112938	248112938	+	Missense_Mutation	SNP	G	G	C	rs572027464		TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr1:248112938G>C	ENST00000357191.3	+	1	779	c.779G>C	c.(778-780)cGt>cCt	p.R260P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R260P(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTTATCTACGTCCAAGATCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											124	93	104					1																	248112938		2203	4297	6500	246179561	SO:0001583	missense	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.779G>C	1.37:g.248112938G>C	ENSP00000349719:p.Arg260Pro		246179561	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	8.778	0.927567	0.18056	.	.	ENSG00000196936	ENST00000357191	T	0.38240	1.15	1.8	-0.293	0.12835	GPCR, rhodopsin-like superfamily (1);	1.357770	0.05838	U	0.618874	T	0.58750	0.2144	M	0.89715	3.055	0.09310	N	1	D	0.62365	0.991	P	0.60886	0.88	T	0.41215	-0.9521	10	0.46703	T	0.11	.	4.437	0.11555	0.5955:0.0:0.4045:0.0	.	260	Q8NGY9	OR2L8_HUMAN	P	260	ENSP00000349719:R260P	ENSP00000349719:R260P	R	+	2	0	OR2L8	246179561	0.000000	0.05858	0.056000	0.19401	0.385000	0.30292	-1.472000	0.02341	0.109000	0.17891	0.485000	0.47835	CGT		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			C	248112938	G	C	248112938	3	2	102	1	0	0	0	0	1	0	0	0	11009	1145	40	3	781	3	OR2L8	1	248112938	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	43732596	248112938	1137683	8	5447											
RNF144A	9781	genome.wustl.edu	37	2	7137070	7137070	+	Silent	SNP	A	A	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr2:7137070A>C	ENST00000320892.6	+	3	455	c.13A>C	c.(13-15)Agg>Cgg	p.R5R	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	5					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R5R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GACCACAACAAGGTACCGGCC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	2											89	82	84					2																	7137070		2203	4300	6503	7054521	SO:0001819	synonymous_variant	9781			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.13A>C	2.37:g.7137070A>C			7054521	D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	37	CCDS1657.1																																																																																				0.607	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		C	7137070	A	C	7137070	2	2	102	1	0	0	0	0	0	0	0	1	13448	63	3	5		5	RNF144A	2	7137070	Silent	SNP	A	TCGA-13-0897-01A-01W-0421-09		7137070	236062303	9	5448											
NDUFS1	4719	genome.wustl.edu	37	2	207003288	207003288	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr2:207003288A>C	ENST00000233190.6	-	13	1579	c.1313T>G	c.(1312-1314)cTc>cGc	p.L438R	NDUFS1_ENST00000423725.1_Missense_Mutation_p.L381R|NDUFS1_ENST00000455934.2_Missense_Mutation_p.L452R|NDUFS1_ENST00000457011.1_Missense_Mutation_p.L322R|NDUFS1_ENST00000449699.1_Missense_Mutation_p.L438R|NDUFS1_ENST00000440274.1_Missense_Mutation_p.L402R|NDUFS1_ENST00000432169.1_Missense_Mutation_p.L327R	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	438					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L438R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTGTAAGTGAGGTCCACTGG	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											107	107	107					2																	207003288		2203	4300	6503	206711533	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1313T>G	2.37:g.207003288A>C	ENSP00000233190:p.Leu438Arg		206711533	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390115	0.82902	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.05	5.05	0.67936	Molybdopterin oxidoreductase (1);	0.063640	0.64402	D	0.000006	D	0.95921	0.8672	H	0.94542	3.55	0.80722	D	1	D;D;D;D	0.89917	0.967;1.0;1.0;1.0	D;D;D;D	0.91635	0.929;0.999;0.999;0.999	D	0.97019	0.9742	10	0.72032	D	0.01	-17.2628	15.0165	0.71588	1.0:0.0:0.0:0.0	.	327;402;452;438	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	R	438;381;322;402;452;438;327	ENSP00000233190:L438R;ENSP00000397760:L381R;ENSP00000400976:L322R;ENSP00000409766:L402R;ENSP00000392709:L452R;ENSP00000399912:L438R;ENSP00000409689:L327R	ENSP00000233190:L438R	L	-	2	0	NDUFS1	206711533	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.138000	0.94501	2.132000	0.65825	0.472000	0.43445	CTC		0.413	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		C	207003288	A	C	207003288	3	2	102	1	0	0	0	0	1	0	0	0	10291	304	11	5	898	5	NDUFS1	2	207003288	Missense_Mutation	SNP	A	TCGA-13-0897-01A-01W-0421-09	199866218	207003288	36196085	10	5449											
RPL32	6161	genome.wustl.edu	37	3	12880849	12880849	+	Splice_Site	SNP	T	T	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr3:12880849T>A	ENST00000429711.2	-	3	376	c.277A>T	c.(277-279)Aaa>Taa	p.K93*	RPL32_ENST00000396953.2_Splice_Site_p.K93*|RPL32_ENST00000435983.1_Splice_Site_p.K93*|RPL32_ENST00000396957.1_Splice_Site_p.K93*|SNORA7A_ENST00000384765.1_RNA|RPL32_ENST00000273223.6_Splice_Site_p.K111*	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	93					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.K93*(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CCAACTCACTTGTTGCACATC	0.483																																																1	Substitution - Nonsense(1)	ovary(1)	3											99	103	102					3																	12880849		2203	4300	6503	12855849	SO:0001630	splice_region_variant	6161			CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"L ribosomal proteins"	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.278+1A>T	3.37:g.12880849T>A			12855849	B2R4Q3|P02433	Nonsense_Mutation	SNP	ENST00000429711.2	37	CCDS2614.1	.	.	.	.	.	.	.	.	.	.	T	36	5.947103	0.97134	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131	.	.	.	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2242	10.8168	0.46580	0.0:0.0:0.0:1.0	.	.	.	.	X	93;93;111;93;93;93	.	ENSP00000339064:K111X	K	-	1	0	RPL32	12855849	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.609000	0.82925	1.633000	0.50488	0.383000	0.25322	AAA		0.483	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994	Nonsense_Mutation	A	12880849	T	A	12880849	5	1	102	1	0	0	0	0	0	0	1	0	13585	1826	63	5	138	5	RPL32	3	12880849	Splice_Site	SNP	T	TCGA-13-0897-01A-01W-0421-09		12880849	185141581	11	5450											
KIF15	56992	genome.wustl.edu	37	3	44867872	44867872	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr3:44867872G>C	ENST00000326047.4	+	22	2855	c.2706G>C	c.(2704-2706)ttG>ttC	p.L902F	KIF15_ENST00000425755.1_Missense_Mutation_p.L537F	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	902					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L902F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTTAGAATTTGATGGAGCTTC	0.338																																																1	Substitution - Missense(1)	ovary(1)	3											74	78	77					3																	44867872		2203	4299	6502	44842876	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2706G>C	3.37:g.44867872G>C	ENSP00000324020:p.Leu902Phe		44842876	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638430	0.67130	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.61510	0.1;0.1;0.1	5.38	5.38	0.77491	.	0.000000	0.40728	N	0.001030	T	0.71307	0.3324	M	0.64997	1.995	0.47584	D	0.999462	D	0.89917	1.0	D	0.73708	0.981	T	0.69997	-0.4993	10	0.42905	T	0.14	.	13.3216	0.60436	0.0:0.0:0.8417:0.1583	.	902	Q9NS87	KIF15_HUMAN	F	902;674;901;537	ENSP00000324020:L902F;ENSP00000425499:L674F;ENSP00000389982:L537F	ENSP00000324020:L902F	L	+	3	2	KIF15	44842876	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.023000	0.30065	2.704000	0.92352	0.586000	0.80456	TTG		0.338	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			C	44867872	G	C	44867872	3	2	102	1	0	0	0	0	1	0	0	0	8277	1281	45	3	2792	3	KIF15	3	44867872	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	31987023	44867872	153154558	12	5451											
ATRIP	84126	genome.wustl.edu	37	3	48502013	48502013	+	Silent	SNP	A	A	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr3:48502013A>G	ENST00000320211.3	+	8	1673	c.1560A>G	c.(1558-1560)ggA>ggG	p.G520G	ATRIP_ENST00000346691.4_Silent_p.G520G|ATRIP_ENST00000357105.6_Silent_p.G393G|ATRIP_ENST00000412052.1_Silent_p.G427G	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	520					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G520G(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTAGTGATGGAGATATGACCT	0.547								Other conserved DNA damage response genes																																								1	Substitution - coding silent(1)	ovary(1)	3											91	91	91					3																	48502013		2203	4300	6503	48477017	SO:0001819	synonymous_variant	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1560A>G	3.37:g.48502013A>G			48477017	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Silent	SNP	ENST00000320211.3	37	CCDS2768.1																																																																																				0.547	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		G	48502013	A	G	48502013	2	3	102	1	0	0	0	0	0	0	0	1	1205	291	11	4		4	ATRIP	3	48502013	Silent	SNP	A	TCGA-13-0897-01A-01W-0421-09	3634141	48502013	149520417	13	5452											
NISCH	11188	genome.wustl.edu	37	3	52522321	52522321	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr3:52522321G>A	ENST00000479054.1	+	17	2885	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H	NISCH_ENST00000345716.4_Missense_Mutation_p.R938H			Q9Y2I1	NISCH_HUMAN	nischarin	938					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.R938H(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)	TGTCGCAACCGCAACAGCTTC	0.642																																																1	Substitution - Missense(1)	ovary(1)	3											106	98	101					3																	52522321		2203	4300	6503	52497361	SO:0001583	missense	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.2813G>A	3.37:g.52522321G>A	ENSP00000418232:p.Arg938His		52497361	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145531	0.77888	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.09255	3.0;3.0	5.21	5.21	0.72293	.	0.195954	0.43260	D	0.000597	T	0.24928	0.0605	L	0.32530	0.975	0.35228	D	0.776651	D	0.89917	1.0	D	0.72075	0.976	T	0.14699	-1.0463	10	0.72032	D	0.01	-29.6115	18.7518	0.91819	0.0:0.0:1.0:0.0	.	938	Q9Y2I1	NISCH_HUMAN	H	938;938;282	ENSP00000418232:R938H;ENSP00000339958:R938H	ENSP00000339958:R938H	R	+	2	0	NISCH	52497361	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.668000	0.61568	2.434000	0.82447	0.462000	0.41574	CGC		0.642	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		A	52522321	G	A	52522321	3	1	102	1	0	0	0	0	1	0	0	0	10432	1087	38	1	2875	1	NISCH	3	52522321	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	4020308	52522321	145500109	14	5453											
ABHD6	57406	genome.wustl.edu	37	3	58279479	58279479	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr3:58279479A>G	ENST00000478253.1	+	10	1502	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	ABHD6_ENST00000295962.4_Missense_Mutation_p.K334R			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	334					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)	p.K334R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GACAACAACAAGAAGCTGGAC	0.542																																																1	Substitution - Missense(1)	ovary(1)	3											69	61	63					3																	58279479		2203	4300	6503	58254519	SO:0001583	missense	57406			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.1001A>G	3.37:g.58279479A>G	ENSP00000420315:p.Lys334Arg		58254519	B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.343722	0.82022	.	.	ENSG00000163686	ENST00000478253;ENST00000295962	T;T	0.81078	-1.45;-1.45	5.84	5.84	0.93424	.	0.273316	0.43919	D	0.000505	D	0.86772	0.6013	M	0.72479	2.2	0.48975	D	0.999735	D	0.64830	0.994	P	0.59221	0.854	D	0.86122	0.1569	10	0.37606	T	0.19	-18.6008	15.0652	0.71989	1.0:0.0:0.0:0.0	.	334	Q9BV23	ABHD6_HUMAN	R	334	ENSP00000420315:K334R;ENSP00000295962:K334R	ENSP00000295962:K334R	K	+	2	0	ABHD6	58254519	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.427000	0.52785	2.228000	0.72767	0.533000	0.62120	AAG		0.542	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		G	58279479	A	G	58279479	3	3	102	1	0	0	0	0	1	0	0	0	86	72	3	4	1031	4	ABHD6	3	58279479	Missense_Mutation	SNP	A	TCGA-13-0897-01A-01W-0421-09	5757158	58279479	139742951	15	5454											
DTX3L	151636	genome.wustl.edu	37	3	122288092	122288092	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr3:122288092A>C	ENST00000296161.4	+	3	1345	c.1156A>C	c.(1156-1158)Aaa>Caa	p.K386Q	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	386					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K386Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TGCCCACTATAAACTTTTAGA	0.358																																																1	Substitution - Missense(1)	ovary(1)	3											58	61	60					3																	122288092		2203	4300	6503	123770782	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1156A>C	3.37:g.122288092A>C	ENSP00000296161:p.Lys386Gln		123770782	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.302135	0.23736	.	.	ENSG00000163840	ENST00000296161	T	0.35236	1.32	5.65	0.397	0.16314	.	0.466390	0.20339	N	0.094278	T	0.26231	0.0640	M	0.61703	1.905	0.80722	D	1	D	0.56521	0.976	B	0.39706	0.307	T	0.13098	-1.0522	10	0.56958	D	0.05	-32.5155	1.9577	0.03379	0.5782:0.1372:0.1523:0.1323	.	386	Q8TDB6	DTX3L_HUMAN	Q	386	ENSP00000296161:K386Q	ENSP00000296161:K386Q	K	+	1	0	DTX3L	123770782	0.014000	0.17966	0.978000	0.43139	0.050000	0.14768	0.809000	0.27168	0.526000	0.28541	0.533000	0.62120	AAA		0.358	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		C	122288092	A	C	122288092	3	2	102	1	0	0	0	0	1	0	0	0	4796	363	13	5	1166	5	DTX3L	3	122288092	Missense_Mutation	SNP	A	TCGA-13-0897-01A-01W-0421-09	64008613	122288092	75734338	16	5455											
MCF2L2	23101	genome.wustl.edu	37	3	182933853	182933862	+	Frame_Shift_Del	DEL	TGCTGAATCT	TGCTGAATCT	-			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	TGCTGAATCT	TGCTGAATCT	TGCTGAATCT	-	TGCTGAATCT	TGCTGAATCT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr3:182933853_182933862delTGCTGAATCT	ENST00000328913.3	-	22	2688_2697	c.2391_2400delAGATTCAGCA	c.(2389-2400)aaagattcagcafs	p.KDSA797fs	MCF2L2_ENST00000473233.1_Frame_Shift_Del_p.KDSA797fs	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	797	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S799L(1)|p.K797fs*12(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGTTGAGAATGCTGAATCTTTGGTTCTCT	0.438																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|breast(1)	3																																								184416556	SO:0001589	frameshift_variant	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2391_2400delAGATTCAGCA	3.37:g.182933853_182933862delTGCTGAATCT	ENSP00000328118:p.Lys797fs		184416547	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Frame_Shift_Del	DEL	ENST00000328913.3	37	CCDS3243.1																																																																																				0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		-	182933862	TGCTGAATCT	-	182933853	7	5	102	1	0	1	0	1	0	0	0	0	9380	1451	51	0	980	0	MCF2L2	3	182933853	Frame_Shift_Del	DEL	TGCTGAATCT	TCGA-13-0897-01A-01W-0421-09	60645761	182933853	15088577	17	5456											
ODAM	54959	genome.wustl.edu	37	4	71066250	71066250	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr4:71066250T>G	ENST00000396094.2	+	6	508	c.460T>G	c.(460-462)Tgg>Ggg	p.W154G		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	154	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.W154G(1)|p.W154R(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GGTCCTACCCTGGGAACAACC	0.378																																																2	Substitution - Missense(2)	ovary(1)|NS(1)	4											111	96	101					4																	71066250		2203	4300	6503	71100839	SO:0001583	missense	54959			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.460T>G	4.37:g.71066250T>G	ENSP00000379401:p.Trp154Gly		71100839	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212826	0.58452	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.48836	0.8;0.8	5.1	3.93	0.45458	.	0.000000	0.41605	D	0.000844	T	0.48804	0.1520	L	0.58101	1.795	0.28005	N	0.935125	P	0.52061	0.95	P	0.50708	0.648	T	0.49194	-0.8965	10	0.59425	D	0.04	4.2725	6.1009	0.20047	0.0:0.1156:0.0:0.8844	.	154	A1E959	ODAM_HUMAN	G	154;140;107	ENSP00000379401:W154G;ENSP00000426106:W107G	ENSP00000379401:W154G	W	+	1	0	ODAM	71100839	0.986000	0.35501	1.000000	0.80357	0.782000	0.44232	2.021000	0.41020	2.144000	0.66660	0.533000	0.62120	TGG		0.378	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		G	71066250	T	G	71066250	3	3	102	1	0	0	0	0	1	0	0	0	10824	1580	55	5	482	5	ODAM	4	71066250	Missense_Mutation	SNP	T	TCGA-13-0897-01A-01W-0421-09		71066250	120088026	18	5457											
MFAP3L	9848	genome.wustl.edu	37	4	170926925	170926950	+	Frame_Shift_Del	DEL	GTGCTGTTAGTCACACTCTTAGCGGT	GTGCTGTTAGTCACACTCTTAGCGGT	GTTAGTTA	rs547471341|rs576708271		TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	GTGCTGTTAGTCACACTCTTAGCGGT	GTGCTGTTAGTCACACTCTTAGCGGT	GTGCTGTTAGTCACACTCTTAGCGGT	GTTAGTTA	GTGCTGTTAGTCACACTCTTAGCGGT	GTGCTGTTAGTCACACTCTTAGCGGT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr4:170926925_170926950delGTGCTGTTAGTCACACTCTTAGCGGT	ENST00000361618.3	-	2	386_411	c.79_104delACCGCTAAGAGTGTGACTAACAGCAC	c.(79-105)accgctaagagtgtgactaacagcactfs	p.TAKSVTNST27fs	MFAP3L_ENST00000506110.1_Frame_Shift_Del_p.TAKSVTNST27fs|MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000393702.3_Frame_Shift_Del_p.TAKSVTNST27fs	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GCCATTTAAAGTGCTGTTAGTCACACTCTTAGCGGTGGCTAGAGTG	0.456																																																0			4																																								171163525	SO:0001589	frameshift_variant	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.79_104delACCGCTAAGAGTGTGACTAACAGCAC	4.37:g.170926925_170926950delGTGCTGTTAGTCACACTCTTAGCGGT	ENSP00000354583:p.Thr27fs		171163500	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	In_Frame_Del	DEL	ENST00000361618.3	37	CCDS34103.1																																																																																				0.456	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		GTTAGTTA	170926950	GTGCTGTTAGTCACACTCTTAGCGGT	GTTAGTTA	170926925	7	5	102	1	0	1	0	1	0	0	0	0	9516	1029	36	0	1133	0	MFAP3L	4	170926925	Frame_Shift_Del	DEL	GTGCTGTTAGTCACACTCTTAGCGGT	TCGA-13-0897-01A-01W-0421-09	99860675	170926925	20227351	19	5458											
GPR98	84059	genome.wustl.edu	37	5	89925239	89925239	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr5:89925239C>G	ENST00000405460.2	+	9	1818	c.1722C>G	c.(1720-1722)atC>atG	p.I574M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	574					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I574M(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAAGGCATCTTAAATATAT	0.383																																																1	Substitution - Missense(1)	ovary(1)	5											85	80	82					5																	89925239		1865	4093	5958	89960995	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1722C>G	5.37:g.89925239C>G	ENSP00000384582:p.Ile574Met		89960995	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.52|17.52	3.411054|3.411054	0.62399|0.62399	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.29397|.	1.57|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.059285|.	0.64402|.	D|.	0.000001|.	T|T	0.64735|0.64735	0.2625|0.2625	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.62184|.	0.899|.	T|T	0.65788|0.65788	-0.6083|-0.6083	10|5	0.87932|.	D|.	0|.	.|.	7.2069|7.2069	0.25911|0.25911	0.0:0.7951:0.0:0.2049|0.0:0.7951:0.0:0.2049	.|.	574|.	Q8WXG9|.	GPR98_HUMAN|.	M|V	574|163	ENSP00000384582:I574M|.	ENSP00000296619:I574M|.	I|L	+|+	3|1	3|0	GPR98|GPR98	89960995|89960995	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	0.441000|0.441000	0.21611|0.21611	2.603000|2.603000	0.88011|0.88011	0.655000|0.655000	0.94253|0.94253	ATC|CTT		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89925239	C	G	89925239	3	3	102	1	0	0	0	0	1	0	0	0	6721	903	32	3	1756	3	GPR98	5	89925239	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09		89925239	90990021	20	5459											
ITK	3702	genome.wustl.edu	37	5	156638376	156638376	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr5:156638376G>C	ENST00000422843.3	+	3	474	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E108Q(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GGCCCTTAAAGAAGGTAATTA	0.483			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - Missense(1)	ovary(1)	5											90	87	88					5																	156638376		2203	4300	6503	156570954	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.322G>C	5.37:g.156638376G>C	ENSP00000398655:p.Glu108Gln		156570954	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762067	0.69763	.	.	ENSG00000113263	ENST00000422843	D	0.93189	-3.18	5.8	4.93	0.64822	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.206056	0.51477	D	0.000082	D	0.89781	0.6814	L	0.35542	1.07	0.48135	D	0.999594	P	0.47106	0.89	P	0.44477	0.451	D	0.88841	0.3312	10	0.38643	T	0.18	.	13.2282	0.59927	0.0772:0.0:0.9228:0.0	.	108	Q08881	ITK_HUMAN	Q	108	ENSP00000398655:E108Q	ENSP00000398655:E108Q	E	+	1	0	ITK	156570954	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.897000	0.69831	2.735000	0.93741	0.655000	0.94253	GAA		0.483	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			C	156638376	G	C	156638376	3	2	102	1	0	0	0	0	1	0	0	0	7909	943	33	3	332	3	ITK	5	156638376	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	66713137	156638376	24276884	21	5460											
GABRA1	2554	genome.wustl.edu	37	5	161318058	161318058	+	Splice_Site	SNP	T	T	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr5:161318058T>A	ENST00000428797.2	+	9	1211		c.e9+2		GABRA1_ENST00000437025.2_Splice_Site|GABRA1_ENST00000420560.1_Splice_Site|GABRA1_ENST00000393943.4_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.?(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGTCTTTGGTAAGTCCCAAT	0.383																																																1	Unknown(1)	ovary(1)	5											98	99	99					5																	161318058		2203	4300	6503	161250636	SO:0001630	splice_region_variant	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.856+2T>A	5.37:g.161318058T>A			161250636	D3DQK6|Q8N629	Splice_Site	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640877	0.87859	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6517	0.77099	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GABRA1	161250636	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.903000	0.87398	2.105000	0.64084	0.528000	0.53228	.		0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	Intron	A	161318058	T	A	161318058	5	1	102	1	0	0	0	0	0	0	1	0	6160	1652	57	5	884	5	GABRA1	5	161318058	Splice_Site	SNP	T	TCGA-13-0897-01A-01W-0421-09	4679682	161318058	19597202	22	5461											
SLIT3	6586	genome.wustl.edu	37	5	168212925	168212925	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr5:168212925A>T	ENST00000519560.1	-	12	1557	c.1138T>A	c.(1138-1140)Tcc>Acc	p.S380T	SLIT3_ENST00000332966.8_Missense_Mutation_p.S380T|SLIT3_ENST00000404867.3_Missense_Mutation_p.S380T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	380					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.S380T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGTAGGGACACCAGCCCA	0.502																																					Ovarian(29;311 847 10864 17279 24903)											1	Substitution - Missense(1)	ovary(1)	5											156	130	139					5																	168212925		2203	4300	6503	168145503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1138T>A	5.37:g.168212925A>T	ENSP00000430333:p.Ser380Thr		168145503	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753538	0.49362	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.62105	0.05;0.05;0.05	5.8	5.8	0.92144	.	0.200986	0.53938	D	0.000045	T	0.63082	0.2481	L	0.56396	1.775	0.80722	D	1	P;P;B	0.52577	0.954;0.928;0.023	B;P;B	0.45610	0.385;0.487;0.029	T	0.63097	-0.6713	10	0.33141	T	0.24	.	15.1822	0.72968	1.0:0.0:0.0:0.0	.	380;380;380	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	T	380	ENSP00000430333:S380T;ENSP00000332164:S380T;ENSP00000384890:S380T	ENSP00000332164:S380T	S	-	1	0	SLIT3	168145503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.581000	0.82535	2.240000	0.73641	0.529000	0.55759	TCC		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168212925	A	T	168212925	3	4	102	1	0	0	0	0	1	0	0	0	14744	275	10	5	3533	5	SLIT3	5	168212925	Missense_Mutation	SNP	A	TCGA-13-0897-01A-01W-0421-09	6894867	168212925	12702335	23	5462											
RNF130	55819	genome.wustl.edu	37	5	179405232	179405232	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr5:179405232C>G	ENST00000261947.4	-	5	1217	c.819G>C	c.(817-819)caG>caC	p.Q273H	RNF130_ENST00000522208.2_Missense_Mutation_p.Q273H|RNF130_ENST00000521389.1_Missense_Mutation_p.Q273H	NM_001280801.1	NP_001267730.1			ring finger protein 130									p.Q273H(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGACATCATTCTGCTTATAGC	0.398																																					GBM(24;432 554 38471 39699 51728)											1	Substitution - Missense(1)	ovary(1)	5											140	123	129					5																	179405232		2203	4300	6503	179337838	SO:0001583	missense	55819			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.819G>C	5.37:g.179405232C>G	ENSP00000261947:p.Gln273His		179337838		Missense_Mutation	SNP	ENST00000261947.4	37		.	.	.	.	.	.	.	.	.	.	C	17.96	3.516640	0.64634	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.43294	0.95;0.95;0.95	5.78	3.94	0.45596	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.064398	0.64402	D	0.000005	T	0.41351	0.1155	N	0.16790	0.44	0.41925	D	0.99053	D;D	0.57571	0.98;0.98	P;P	0.60236	0.871;0.519	T	0.40213	-0.9575	10	0.59425	D	0.04	.	9.7862	0.40677	0.0:0.7498:0.1277:0.1225	.	290;273	Q59EL1;Q86XS8	.;GOLI_HUMAN	H	273	ENSP00000429509:Q273H;ENSP00000430237:Q273H;ENSP00000261947:Q273H	ENSP00000261947:Q273H	Q	-	3	2	RNF130	179337838	0.988000	0.35896	1.000000	0.80357	0.964000	0.63967	0.217000	0.17603	1.533000	0.49186	0.655000	0.94253	CAG		0.398	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		G	179405232	C	G	179405232	3	3	102	1	0	0	0	0	1	0	0	0	13441	912	32	3	460	3	RNF130	5	179405232	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09	11192307	179405232	1510028	24	5463											
JARID2	3720	genome.wustl.edu	37	6	15487600	15487600	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr6:15487600G>T	ENST00000341776.2	+	6	977	c.733G>T	c.(733-735)Gag>Tag	p.E245*	JARID2_ENST00000541660.1_Nonsense_Mutation_p.E207*|JARID2_ENST00000397311.3_Nonsense_Mutation_p.E73*	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	245					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E245*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAAAAGCAAAGAGGCCACTCC	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	6											108	97	100					6																	15487600		2203	4300	6503	15595579	SO:0001587	stop_gained	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.733G>T	6.37:g.15487600G>T	ENSP00000341280:p.Glu245*		15595579	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Nonsense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	42	9.256349	0.99117	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	.	.	.	5.3	5.3	0.74995	.	0.167363	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-21.8355	19.3085	0.94175	0.0:0.0:1.0:0.0	.	.	.	.	X	109;245;73;207	.	ENSP00000341280:E245X	E	+	1	0	JARID2	15595579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.513000	0.81739	2.625000	0.88918	0.655000	0.94253	GAG		0.547	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		T	15487600	G	T	15487600	4	4	102	1	0	0	0	0	0	1	0	0	7945	943	33	3	755	3	JARID2	6	15487600	Nonsense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09		15487600	155627467	25	5464											
C6orf192	116843	genome.wustl.edu	37	6	133100448	133100448	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr6:133100448C>G	ENST00000275227.4	-	7	850	c.754G>C	c.(754-756)Ggc>Cgc	p.G252R	SLC18B1_ENST00000538764.1_Missense_Mutation_p.G126R|SLC18B1_ENST00000367918.1_Intron	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	252					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.G252R(1)									TCGAGGAAGCCAAAACACGAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	6											157	137	144					6																	133100448		2203	4300	6503	133142141	SO:0001583	missense	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.754G>C	6.37:g.133100448C>G	ENSP00000275227:p.Gly252Arg		133142141	A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686519	0.88639	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.59638	0.25;0.25	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.145278	0.64402	D	0.000006	T	0.73118	0.3546	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.98	D;D	0.76575	0.988;0.961	T	0.76369	-0.2984	10	0.87932	D	0	-10.4917	16.2101	0.82150	0.0:1.0:0.0:0.0	.	126;252	B7Z1S5;Q6NT16	.;CF192_HUMAN	R	252;126	ENSP00000275227:G252R;ENSP00000444098:G126R	ENSP00000275227:G252R	G	-	1	0	C6orf192	133142141	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	6.354000	0.73036	2.746000	0.94184	0.561000	0.74099	GGC		0.448	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831		G	133100448	C	G	133100448	3	3	102	1	0	0	0	0	1	0	0	0	2349	594	21	3	648	3	C6orf192	6	133100448	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09	117612848	133100448	38014619	26	5465											
ASH2L	9070	genome.wustl.edu	37	8	37964573	37964573	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr8:37964573C>G	ENST00000343823.6	+	3	599	c.290C>G	c.(289-291)aCt>aGt	p.T97S	ASH2L_ENST00000250635.7_Missense_Mutation_p.T3S|ASH2L_ENST00000428278.2_Missense_Mutation_p.T3S|ASH2L_ENST00000545394.1_Intron|ASH2L_ENST00000521652.1_Missense_Mutation_p.T3S	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	97	DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.T97S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GTGATGGATACTCAGGCGGGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	8											141	125	130					8																	37964573		2203	4300	6503	38083730	SO:0001583	missense	9070			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.290C>G	8.37:g.37964573C>G	ENSP00000340896:p.Thr97Ser		38083730	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318444	0.60524	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000517719;ENST00000428278;ENST00000521652	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.13	4.25	0.50352	.	0.153863	0.64402	D	0.000015	T	0.16514	0.0397	L	0.40543	1.245	0.80722	D	1	B;B	0.26147	0.143;0.075	B;B	0.24155	0.051;0.027	T	0.05321	-1.0892	10	0.29301	T	0.29	.	9.6342	0.39798	0.1406:0.785:0.0:0.0745	.	3;97	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	S	97;3;111;3;3	ENSP00000340896:T97S;ENSP00000250635:T3S;ENSP00000428877:T111S;ENSP00000395310:T3S;ENSP00000430259:T3S	ENSP00000250635:T3S	T	+	2	0	ASH2L	38083730	0.716000	0.27956	0.956000	0.39512	0.996000	0.88848	2.770000	0.47662	1.137000	0.42214	0.557000	0.71058	ACT		0.453	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		G	37964573	C	G	37964573	3	3	102	1	0	0	0	0	1	0	0	0	1042	565	20	3	300	3	ASH2L	8	37964573	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09		37964573	108399449	27	5466											
SLCO5A1	81796	genome.wustl.edu	37	8	70673987	70673987	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr8:70673987A>G	ENST00000260126.4	-	3	1737	c.1031T>C	c.(1030-1032)aTt>aCt	p.I344T	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.I344T|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.I344T	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	344						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I344T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAGTTTCCAATGAAACGAGG	0.348																																																1	Substitution - Missense(1)	ovary(1)	8											65	66	66					8																	70673987		2203	4300	6503	70836541	SO:0001583	missense	81796			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1031T>C	8.37:g.70673987A>G	ENSP00000260126:p.Ile344Thr		70836541	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346104	0.82022	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.52057	0.68;0.68;0.68	4.9	4.9	0.64082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.108809	0.64402	D	0.000007	T	0.62332	0.2419	L	0.59912	1.85	0.47949	D	0.999552	P;D;P;P	0.63046	0.931;0.992;0.88;0.835	P;P;P;P	0.62491	0.699;0.903;0.765;0.574	T	0.66685	-0.5861	10	0.87932	D	0	.	14.8095	0.69982	1.0:0.0:0.0:0.0	.	344;344;344;344	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	T	344	ENSP00000260126:I344T;ENSP00000434422:I344T;ENSP00000431611:I344T	ENSP00000260126:I344T	I	-	2	0	SLCO5A1	70836541	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.287000	0.95975	1.969000	0.57287	0.377000	0.23210	ATT		0.348	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		G	70673987	A	G	70673987	3	3	102	1	0	0	0	0	1	0	0	0	14734	101	4	4	1547	4	SLCO5A1	8	70673987	Missense_Mutation	SNP	A	TCGA-13-0897-01A-01W-0421-09	32709414	70673987	75690035	28	5467											
RSPO2	340419	genome.wustl.edu	37	8	108970482	108970482	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr8:108970482C>T	ENST00000276659.5	-	5	1062	c.442G>A	c.(442-444)Ggt>Agt	p.G148S	RSPO2_ENST00000517939.1_Missense_Mutation_p.G81S|RSPO2_ENST00000517781.1_Missense_Mutation_p.G84S|RSPO2_ENST00000378439.2_Missense_Mutation_p.G84S	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	148	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.G148S(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTCCAATGACCAACTTCACAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	8											108	105	106					8																	108970482		2203	4300	6503	109039658	SO:0001583	missense	340419			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.442G>A	8.37:g.108970482C>T	ENSP00000276659:p.Gly148Ser		109039658	B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310107	0.60414	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-1.99;-1.99;-2.71	5.81	5.81	0.92471	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.89238	0.6658	N	0.05619	-0.005	0.80722	D	1	D;P	0.89917	1.0;0.873	D;P	0.91635	0.999;0.543	D	0.83418	0.0031	10	0.06494	T	0.89	-2.6947	20.4375	0.99097	0.0:1.0:0.0:0.0	.	148;84	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	S	81;84;84;148;81;81	ENSP00000428940:G81S;ENSP00000427937:G84S;ENSP00000367698:G84S;ENSP00000276659:G148S;ENSP00000428614:G81S;ENSP00000430485:G81S	ENSP00000276659:G148S	G	-	1	0	RSPO2	109039658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.711000	0.68400	2.906000	0.99361	0.655000	0.94253	GGT		0.368	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		T	108970482	C	T	108970482	3	4	102	1	0	0	0	0	1	0	0	0	13713	594	21	2	297	2	RSPO2	8	108970482	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09	38296495	108970482	37393540	29	5468											
FAM135B	51059	genome.wustl.edu	37	8	139164044	139164044	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr8:139164044T>C	ENST00000395297.1	-	13	2844	c.2674A>G	c.(2674-2676)Agg>Ggg	p.R892G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	892								p.R892G(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCTGGTCCTGGGGTTTTCA	0.468										HNSCC(54;0.14)																																						2	Substitution - Missense(2)	ovary(2)	8											128	123	125					8																	139164044		2203	4300	6503	139233226	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2674A>G	8.37:g.139164044T>C	ENSP00000378710:p.Arg892Gly		139233226	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798760	0.31777	.	.	ENSG00000147724	ENST00000395297	T	0.15834	2.39	5.33	-10.7	0.00240	.	1.594030	0.02860	N	0.130137	T	0.07683	0.0193	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.13980	-1.0489	10	0.22109	T	0.4	0.0296	7.5238	0.27643	0.0929:0.4981:0.2777:0.1313	.	892;892;892	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	G	892	ENSP00000378710:R892G	ENSP00000276737:R892G	R	-	1	2	FAM135B	139233226	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.251000	0.02882	-1.992000	0.00975	-1.027000	0.02421	AGG		0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		C	139164044	T	C	139164044	3	2	102	1	0	0	0	0	1	0	0	0	5449	1579	55	4	1578	4	FAM135B	8	139164044	Missense_Mutation	SNP	T	TCGA-13-0897-01A-01W-0421-09	30193562	139164044	7199978	30	5469											
KIAA1274	27143	genome.wustl.edu	37	10	72291152	72291152	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr10:72291152T>A	ENST00000263563.6	+	5	843	c.575T>A	c.(574-576)cTc>cAc	p.L192H		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	192						cytosol (GO:0005829)		p.L192H(1)									CATGAGAACCTCCAGGGCCTT	0.612																																																1	Substitution - Missense(1)	ovary(1)	10											96	80	85					10																	72291152		2203	4300	6503	71961158	SO:0001583	missense	27143			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.575T>A	10.37:g.72291152T>A	ENSP00000263563:p.Leu192His		71961158	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326634	0.81690	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.30448	1.53	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67461	-0.5665	10	0.87932	D	0	-29.4712	15.23	0.73381	0.0:0.0:0.0:1.0	.	192	Q9ULE6	PALD_HUMAN	H	192	ENSP00000263563:L192H	ENSP00000263563:L192H	L	+	2	0	KIAA1274	71961158	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.848000	0.86902	2.210000	0.71456	0.533000	0.62120	CTC		0.612	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		A	72291152	T	A	72291152	3	1	102	1	0	0	0	0	1	0	0	0	8220	1551	54	5	589	5	KIAA1274	10	72291152	Missense_Mutation	SNP	T	TCGA-13-0897-01A-01W-0421-09		72291152	63243595	31	5470											
BAG3	9531	genome.wustl.edu	37	10	121436366	121436366	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr10:121436366G>A	ENST00000369085.3	+	4	1606	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	434	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)		p.G434R(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GAAGGTACAGGGGCTGGAGCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	10											46	50	48					10																	121436366		2203	4300	6503	121426356	SO:0001583	missense	9531			AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.1300G>A	10.37:g.121436366G>A	ENSP00000358081:p.Gly434Arg		121426356	A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050046	0.55218	.	.	ENSG00000151929	ENST00000369085	D	0.86694	-2.16	5.73	4.82	0.62117	BAG domain (3);	0.361011	0.34460	N	0.003943	T	0.79405	0.4440	N	0.04508	-0.205	0.32579	N	0.528779	B;B	0.29571	0.249;0.249	P;P	0.51135	0.66;0.66	T	0.75736	-0.3213	10	0.15952	T	0.53	-17.112	2.8257	0.05484	0.1595:0.1444:0.5466:0.1495	.	434;434	O95817;Q53GY1	BAG3_HUMAN;.	R	434	ENSP00000358081:G434R	ENSP00000358081:G434R	G	+	1	0	BAG3	121426356	0.974000	0.33945	0.998000	0.56505	0.989000	0.77384	2.074000	0.41529	1.551000	0.49450	0.655000	0.94253	GGG		0.522	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		A	121436366	G	A	121436366	3	1	102	1	0	0	0	0	1	0	0	0	1288	1232	43	2	1314	2	BAG3	10	121436366	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	49145214	121436366	14098381	32	5471											
SLC17A6	57084	genome.wustl.edu	37	11	22397548	22397548	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr11:22397548C>A	ENST00000263160.3	+	10	1632	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	399					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.L399V(1)|p.L399M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAAGCCACACTGCTCCTGGT	0.388																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	11											161	165	164					11																	22397548		2203	4300	6503	22354124	SO:0001583	missense	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1195C>A	11.37:g.22397548C>A	ENSP00000263160:p.Leu399Met		22354124	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276832	0.59758	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.59083	0.29	6.17	-0.244	0.13031	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.43152	1.355	0.45690	D	0.998602	B	0.32893	0.389	B	0.42959	0.403	T	0.53858	-0.8379	10	0.62326	D	0.03	.	11.0429	0.47842	0.0:0.6473:0.0:0.3527	.	399	Q9P2U8	VGLU2_HUMAN	M	399;287	ENSP00000263160:L399M	ENSP00000263160:L399M	L	+	1	2	SLC17A6	22354124	0.039000	0.19947	0.149000	0.22428	0.845000	0.48019	0.510000	0.22723	-0.050000	0.13356	-0.140000	0.14226	CTG		0.388	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		A	22397548	C	A	22397548	3	1	102	1	0	0	0	0	1	0	0	0	14424	564	20	3	1233	3	SLC17A6	11	22397548	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09		22397548	112608968	33	5472											
OR5AS1	219447	genome.wustl.edu	37	11	55798688	55798688	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr11:55798688G>C	ENST00000313555.1	+	1	794	c.794G>C	c.(793-795)aGc>aCc	p.S265T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S265T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCCACCACTAGCTATTCCCTA	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											102	87	92					11																	55798688		2201	4296	6497	55555264	SO:0001583	missense	219447			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.794G>C	11.37:g.55798688G>C	ENSP00000324111:p.Ser265Thr		55555264	Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	8.251	0.808965	0.16537	.	.	ENSG00000181785	ENST00000313555	T	0.00115	8.71	5.14	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.389671	0.18794	U	0.130989	T	0.00144	0.0004	L	0.29908	0.895	0.09310	N	1	P	0.47484	0.896	P	0.48952	0.596	T	0.41305	-0.9516	10	0.56958	D	0.05	.	2.6933	0.05127	0.2698:0.0:0.5065:0.2237	.	265	Q8N127	O5AS1_HUMAN	T	265	ENSP00000324111:S265T	ENSP00000324111:S265T	S	+	2	0	OR5AS1	55555264	0.000000	0.05858	0.919000	0.36401	0.070000	0.16714	-0.157000	0.10085	1.154000	0.42482	0.579000	0.79373	AGC		0.413	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		C	55798688	G	C	55798688	3	2	102	1	0	0	0	0	1	0	0	0	11146	971	34	3	796	3	OR5AS1	11	55798688	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	33401140	55798688	79207828	34	5473											
OR5B2	390190	genome.wustl.edu	37	11	58190045	58190045	+	Silent	SNP	C	C	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr11:58190045C>T	ENST00000302581.2	-	1	741	c.690G>A	c.(688-690)aaG>aaA	p.K230K		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K230K(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTTGGTGTCCCTTAGCTGAAT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	11											104	97	99					11																	58190045		2201	4295	6496	57946621	SO:0001819	synonymous_variant	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.690G>A	11.37:g.58190045C>T			57946621	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	CCDS31550.1																																																																																				0.413	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		T	58190045	C	T	58190045	2	4	102	1	0	0	0	0	0	0	0	1	11150	680	24	2		2	OR5B2	11	58190045	Silent	SNP	C	TCGA-13-0897-01A-01W-0421-09	2391357	58190045	76816471	35	5474											
RNF169	254225	genome.wustl.edu	37	11	74546864	74546864	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr11:74546864A>G	ENST00000299563.4	+	6	1229	c.1216A>G	c.(1216-1218)Atc>Gtc	p.I406V		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	406					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.I406V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AAGTCCTCTCATCATCAAATC	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											138	142	141					11																	74546864		1993	4166	6159	74224512	SO:0001583	missense	254225			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1216A>G	11.37:g.74546864A>G	ENSP00000299563:p.Ile406Val		74224512	Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196042	0.58126	.	.	ENSG00000166439	ENST00000299563	T	0.58060	0.36	5.99	5.99	0.97316	.	0.046002	0.85682	D	0.000000	T	0.62913	0.2467	M	0.79475	2.455	0.80722	D	1	P	0.47604	0.898	P	0.47891	0.56	T	0.68674	-0.5346	10	0.72032	D	0.01	-18.3951	14.4413	0.67321	1.0:0.0:0.0:0.0	.	406	Q8NCN4	RN169_HUMAN	V	406	ENSP00000299563:I406V	ENSP00000299563:I406V	I	+	1	0	RNF169	74224512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.734000	0.68580	2.296000	0.77279	0.533000	0.62120	ATC		0.483	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		G	74546864	A	G	74546864	3	3	102	1	0	0	0	0	1	0	0	0	13463	217	8	4	1238	4	RNF169	11	74546864	Missense_Mutation	SNP	A	TCGA-13-0897-01A-01W-0421-09	16356819	74546864	60459652	36	5475											
NOX4	50507	genome.wustl.edu	37	11	89223629	89223629	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr11:89223629C>A	ENST00000263317.4	-	2	388	c.150G>T	c.(148-150)ttG>ttT	p.L50F	NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000532825.1_Missense_Mutation_p.L26F|NOX4_ENST00000531342.1_Missense_Mutation_p.L50F|NOX4_ENST00000424319.1_Missense_Mutation_p.L26F|NOX4_ENST00000393282.2_Missense_Mutation_p.L50F|NOX4_ENST00000535633.1_Missense_Mutation_p.L26F|NOX4_ENST00000375979.3_Missense_Mutation_p.L50F|NOX4_ENST00000413594.2_Missense_Mutation_p.L71F|NOX4_ENST00000542487.1_Missense_Mutation_p.L26F|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000525196.1_Missense_Mutation_p.L50F|NOX4_ENST00000527956.1_Missense_Mutation_p.L26F|NOX4_ENST00000343727.5_Missense_Mutation_p.L26F|NOX4_ENST00000534731.1_Missense_Mutation_p.L50F			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	50					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.L50F(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TACTTACCCCCAACATCTGGT	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											131	125	127					11																	89223629		2201	4299	6500	88863277	SO:0001583	missense	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.150G>T	11.37:g.89223629C>A	ENSP00000263317:p.Leu50Phe		88863277	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796935	0.50208	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000413594;ENST00000531342;ENST00000375979;ENST00000393282	D;D;D;D;D;D;D;D;D;D;D;D	0.96073	-3.82;-3.82;-3.82;-3.81;-3.82;-3.74;-3.9;-3.82;-3.82;-3.86;-3.32;-3.14	5.1	1.47	0.22746	.	0.000000	0.64402	D	0.000012	D	0.96700	0.8923	M	0.84082	2.675	0.43050	D	0.99465	P;D;D;D;P;B	0.69078	0.892;0.995;0.997;0.997;0.73;0.441	B;D;D;D;B;B	0.75484	0.248;0.969;0.986;0.986;0.119;0.132	D	0.94646	0.7835	9	.	.	.	-9.0866	5.3341	0.15947	0.0:0.4683:0.0:0.5317	.	26;50;50;50;50;50	E9PMY6;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	F	26;26;26;50;50;50;26;26;26;71;50;50;50	ENSP00000412446:L26F;ENSP00000440172:L26F;ENSP00000344747:L26F;ENSP00000436892:L50F;ENSP00000436716:L50F;ENSP00000263317:L50F;ENSP00000434924:L26F;ENSP00000433797:L26F;ENSP00000439373:L26F;ENSP00000405705:L71F;ENSP00000435039:L50F;ENSP00000365146:L50F	.	L	-	3	2	NOX4	88863277	1.000000	0.71417	0.996000	0.52242	0.470000	0.32858	0.873000	0.28052	0.443000	0.26582	0.313000	0.20887	TTG		0.438	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		A	89223629	C	A	89223629	3	1	102	1	0	0	0	0	1	0	0	0	10558	593	21	3	1654	3	NOX4	11	89223629	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09	14676765	89223629	45782887	37	5476											
ACSM4	341392	genome.wustl.edu	37	12	7463142	7463142	+	Silent	SNP	C	C	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr12:7463142C>T	ENST00000399422.4	+	3	468	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	140					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						CAGGGATCATCTTCATGCCGG	0.562																																																0			12											26	27	27					12																	7463142		2054	4199	6253	7354409	SO:0001819	synonymous_variant	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.420C>T	12.37:g.7463142C>T			7354409	A8MTI6	Silent	SNP	ENST00000399422.4	37	CCDS44825.1																																																																																				0.562	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		T	7463142	C	T	7463142	2	4	102	1	0	0	0	0	0	0	0	1	186	903	32	2		2	ACSM4	12	7463142	Silent	SNP	C	TCGA-13-0897-01A-01W-0421-09		7463142	126388753	38	5477											
TAS2R43	259289	genome.wustl.edu	37	12	11243973	11243973	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr12:11243973G>C	ENST00000531678.1	-	1	939	c.856C>G	c.(856-858)Cta>Gta	p.L286V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	286					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.L286V(1)		endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GTCTGCTTTAGCTTCTTGTTT	0.413																																																1	Substitution - Missense(1)	ovary(1)	12											129	107	114					12																	11243973		1925	4126	6051	11135240	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.856C>G	12.37:g.11243973G>C	ENSP00000431719:p.Leu286Val		11135240	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	10.80	1.452769	0.26074	.	.	ENSG00000255374	ENST00000531678	T	0.01725	4.67	2.54	0.186	0.15105	.	.	.	.	.	T	0.11580	0.0282	H	0.95079	3.62	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11641	-1.0579	9	0.87932	D	0	.	2.6001	0.04864	0.1812:0.0:0.5377:0.281	.	286	P59537	T2R43_HUMAN	V	286	ENSP00000431719:L286V	ENSP00000431719:L286V	L	-	1	2	TAS2R43	11135240	0.536000	0.26378	0.077000	0.20336	0.051000	0.14879	0.657000	0.24963	0.166000	0.19597	0.195000	0.17529	CTA		0.413	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		C	11243973	G	C	11243973	3	2	102	1	0	0	0	0	1	0	0	0	15581	962	34	3	77	3	TAS2R43	12	11243973	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	3780831	11243973	122607922	39	5478											
FGD6	55785	genome.wustl.edu	37	12	95478360	95478360	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr12:95478360C>G	ENST00000343958.4	-	20	4393	c.4170G>C	c.(4168-4170)gaG>gaC	p.E1390D		NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1390	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E1390D(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACTCGGAATTCTCATCTTTAA	0.353																																																1	Substitution - Missense(1)	ovary(1)	12											98	106	103					12																	95478360		2203	4300	6503	94002491	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.4170G>C	12.37:g.95478360C>G	ENSP00000344446:p.Glu1390Asp		94002491	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096529	0.36952	.	.	ENSG00000180263	ENST00000343958	T	0.75589	-0.95	4.98	0.847	0.18961	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.45606	D	0.000342	T	0.60945	0.2308	L	0.41632	1.29	0.80722	D	1	B	0.15719	0.014	B	0.22152	0.038	T	0.51260	-0.8728	10	0.51188	T	0.08	-9.4326	5.8791	0.18846	0.0:0.3513:0.3947:0.254	.	1390	Q6ZV73	FGD6_HUMAN	D	1390	ENSP00000344446:E1390D	ENSP00000344446:E1390D	E	-	3	2	FGD6	94002491	0.018000	0.18449	0.993000	0.49108	0.758000	0.43043	-0.024000	0.12435	0.117000	0.18138	0.491000	0.48974	GAG		0.353	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		G	95478360	C	G	95478360	3	3	102	1	0	0	0	0	1	0	0	0	5837	912	32	3	130	3	FGD6	12	95478360	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09	84234387	95478360	38373535	40	5479											
NT5DC3	51559	genome.wustl.edu	37	12	104208741	104208741	+	Missense_Mutation	SNP	G	G	A	rs368049739		TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr12:104208741G>A	ENST00000392876.3	-	2	407	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	123						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R48W(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGAAGGTCCCGTGCAGCATTA	0.458																																																1	Substitution - Missense(1)	ovary(1)	12						G	TRP/ARG	0,4406		0,0,2203	168	157	161		367	5.9	1	12		161	1,8599		0,1,4299	no	missense	NT5DC3	NM_001031701.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	123/549	104208741	1,13005	2203	4300	6503	102732871	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.367C>T	12.37:g.104208741G>A	ENSP00000376615:p.Arg123Trp		102732871	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799593	0.90538	0.0	1.16E-4	ENSG00000111696	ENST00000392876	T	0.23552	1.9	5.87	5.87	0.94306	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.61138	-0.7123	10	0.72032	D	0.01	-34.9703	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	123	Q86UY8	NT5D3_HUMAN	W	123	ENSP00000376615:R123W	ENSP00000376615:R123W	R	-	1	2	NT5DC3	102732871	0.997000	0.39634	0.992000	0.48379	0.919000	0.55068	2.528000	0.45624	2.941000	0.99782	0.655000	0.94253	CGG		0.458	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		A	104208741	G	A	104208741	3	1	102	1	0	0	0	0	1	0	0	0	10692	1144	40	1	1331	1	NT5DC3	12	104208741	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	8730381	104208741	29643154	41	5480											
GPR133	283383	genome.wustl.edu	37	12	131488816	131488816	+	Silent	SNP	C	C	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr12:131488816C>A	ENST00000261654.5	+	11	1789	c.1230C>A	c.(1228-1230)atC>atA	p.I410I	GPR133_ENST00000376682.4_Silent_p.I96I|GPR133_ENST00000535015.1_Silent_p.I442I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	410					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I410I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCATCCAGATCCCCCACGAGG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	12											70	61	64					12																	131488816		2203	4300	6503	130054769	SO:0001819	synonymous_variant	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1230C>A	12.37:g.131488816C>A			130054769	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131488816	C	A	131488816	2	1	102	1	0	0	0	0	0	0	0	1	6643	845	30	3		3	GPR133	12	131488816	Silent	SNP	C	TCGA-13-0897-01A-01W-0421-09	27280075	131488816	2363079	42	5481											
TUBA3C	7278	genome.wustl.edu	37	13	19751364	19751364	+	Silent	SNP	C	C	T	rs527372781	byFrequency	TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr13:19751364C>T	ENST00000400113.3	-	4	863	c.759G>A	c.(757-759)acG>acA	p.T253T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	253					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T253T(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCTGGAATTCCGTCAAGTCCA	0.612													C|||	4	0.000798722	0	0	5008	,	,		18879	0		0	False		,,,				2504	0.0041															2	Substitution - coding silent(2)	ovary(2)	13											148	131	137					13																	19751364		2203	4300	6503	18649364	SO:0001819	synonymous_variant	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.759G>A	13.37:g.19751364C>T			18649364	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751364	C	T	19751364	2	4	102	1	0	0	0	0	0	0	0	1	16746	639	23	1		1	TUBA3C	13	19751364	Silent	SNP	C	TCGA-13-0897-01A-01W-0421-09		19751364	95418514	43	5482											
ZNF770	54989	genome.wustl.edu	37	15	35274048	35274048	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr15:35274048G>A	ENST00000356321.4	-	3	1932	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	530					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P530S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GATGCATAAGGACTCTTTTCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	15											75	77	76					15																	35274048		2201	4297	6498	33061340	SO:0001583	missense	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1588C>T	15.37:g.35274048G>A	ENSP00000348673:p.Pro530Ser		33061340	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	9.870	1.198582	0.22121	.	.	ENSG00000198146	ENST00000356321	T	0.13901	2.55	5.1	4.17	0.49024	Zinc finger, C2H2 (1);	0.263175	0.29133	N	0.013050	T	0.13457	0.0326	L	0.27053	0.805	0.31892	N	0.617073	D	0.55605	0.972	P	0.48304	0.573	T	0.05683	-1.0870	10	0.72032	D	0.01	-7.8507	10.0737	0.42347	0.0:0.2762:0.5815:0.1423	.	530	Q6IQ21	ZN770_HUMAN	S	530	ENSP00000348673:P530S	ENSP00000348673:P530S	P	-	1	0	ZNF770	33061340	1.000000	0.71417	0.991000	0.47740	0.909000	0.53808	4.184000	0.58323	1.351000	0.45789	0.467000	0.42956	CCT		0.363	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		A	35274048	G	A	35274048	3	1	102	1	0	0	0	0	1	0	0	0	18143	1174	41	2	491	2	ZNF770	15	35274048	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09		35274048	67257344	44	5483											
BRD4	23476	genome.wustl.edu	37	19	15379765	15379765	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr19:15379765C>T	ENST00000263377.2	-	3	595	c.374G>A	c.(373-375)tGt>tAt	p.C125Y	BRD4_ENST00000360016.5_Missense_Mutation_p.C125Y|BRD4_ENST00000371835.4_Missense_Mutation_p.C125Y	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	125	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.C125Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTCCTGGATACATTCCTGAGC	0.443			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	2	Substitution - Missense(2)	ovary(2)	19											170	152	158					19																	15379765		2203	4300	6503	15240765	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.374G>A	19.37:g.15379765C>T	ENSP00000263377:p.Cys125Tyr		15240765	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617952	0.87359	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.28666	1.6;1.6;1.6	5.25	5.25	0.73442	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000003	T	0.51736	0.1692	L	0.51853	1.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.53027	-0.8496	10	0.87932	D	0	-6.8729	17.6218	0.88084	0.0:1.0:0.0:0.0	.	125;125;125	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	Y	125	ENSP00000263377:C125Y;ENSP00000360901:C125Y;ENSP00000353112:C125Y	ENSP00000263377:C125Y	C	-	2	0	BRD4	15240765	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.455000	0.83008	0.655000	0.94253	TGT		0.443	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		T	15379765	C	T	15379765	3	4	102	1	0	0	0	0	1	0	0	0	1504	478	17	2	3801	2	BRD4	19	15379765	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09		15379765	43749218	45	5484											
KIRREL2	84063	genome.wustl.edu	37	19	36351230	36351230	+	Silent	SNP	A	A	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr19:36351230A>G	ENST00000360202.5	+	6	903	c.705A>G	c.(703-705)ccA>ccG	p.P235P	KIRREL2_ENST00000347900.6_Silent_p.P185P|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.P235P|KIRREL2_ENST00000262625.7_Silent_p.P235P	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	235	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.P235P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCTTCGCCACACACTGTGC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	19											77	62	67					19																	36351230		2203	4300	6503	41043070	SO:0001819	synonymous_variant	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.705A>G	19.37:g.36351230A>G			41043070	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	CCDS12481.1																																																																																				0.607	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		G	36351230	A	G	36351230	2	3	102	1	0	0	0	0	0	0	0	1	8325	146	6	4		4	KIRREL2	19	36351230	Silent	SNP	A	TCGA-13-0897-01A-01W-0421-09	20971465	36351230	22777753	46	5485											
CYP2F1	1572	genome.wustl.edu	37	19	41627882	41627882	+	Silent	SNP	C	C	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr19:41627882C>T	ENST00000331105.2	+	6	738	c.666C>T	c.(664-666)agC>agT	p.S222S		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	222					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.S222S(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TCTTCCCGAGCCTCCTGGACT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	19											73	75	74					19																	41627882		2202	4299	6501	46319722	SO:0001819	synonymous_variant	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.666C>T	19.37:g.41627882C>T			46319722	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	CCDS12572.1																																																																																				0.597	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			T	41627882	C	T	41627882	2	4	102	1	0	0	0	0	0	0	0	1	4171	738	26	2		2	CYP2F1	19	41627882	Silent	SNP	C	TCGA-13-0897-01A-01W-0421-09	5276652	41627882	17501101	47	5486											
CIC	23152	genome.wustl.edu	37	19	42796462	42796474	+	Frame_Shift_Del	DEL	GTGCAGTCAGCGG	GTGCAGTCAGCGG	-	rs367725186|rs148075505		TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	GTGCAGTCAGCGG	GTGCAGTCAGCGG	GTGCAGTCAGCGG	-	GTGCAGTCAGCGG	GTGCAGTCAGCGG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr19:42796462_42796474delGTGCAGTCAGCGG	ENST00000575354.2	+	13	3059_3071	c.3019_3031delGTGCAGTCAGCGG	c.(3019-3033)gtgcagtcagcgggcfs	p.VQSAG1007fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.VQSAG1007fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.VQSAG1916fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1007	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1007fs*28(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AATCACCTATGTGCAGTCAGCGGGCGGGCACGC	0.648			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Deletion - Frameshift(1)	ovary(1)	19																																								47488314	SO:0001589	frameshift_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3019_3031delGTGCAGTCAGCGG	19.37:g.42796462_42796474delGTGCAGTCAGCGG	ENSP00000458663:p.Val1007fs		47488302	Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	CCDS12601.1																																																																																				0.648	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			-	42796474	GTGCAGTCAGCGG	-	42796462	7	5	102	1	0	1	0	1	0	0	0	0	3424	1377	48	0	3069	0	CIC	19	42796462	Frame_Shift_Del	DEL	GTGCAGTCAGCGG	TCGA-13-0897-01A-01W-0421-09	1168580	42796462	16332521	48	5487											
MYH14	79784	genome.wustl.edu	37	19	50805001	50805001	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr19:50805001G>T	ENST00000596571.1	+	37	5430	c.5430G>T	c.(5428-5430)caG>caT	p.Q1810H	MYH14_ENST00000376970.2_Missense_Mutation_p.Q1843H|MYH14_ENST00000601313.1_Missense_Mutation_p.Q1851H|MYH14_ENST00000598205.1_Missense_Mutation_p.Q1818H|MYH14_ENST00000440075.2_Missense_Mutation_p.Q1851H|MYH14_ENST00000262269.8_Missense_Mutation_p.Q1851H|MYH14_ENST00000425460.1_Missense_Mutation_p.Q1818H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1810					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGGAACGGCAGATCCAGGAGC	0.627																																																0			19											38	45	43					19																	50805001		2057	4207	6264	55496813	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5430G>T	19.37:g.50805001G>T	ENSP00000472819:p.Gln1810His		55496813	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534255	0.64972	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	4.08	0.807	0.18714	Myosin tail (1);	.	.	.	.	D	0.90034	0.6888	M	0.77616	2.38	0.35672	D	0.813354	D;B;D	0.89917	1.0;0.337;1.0	D;B;D	0.97110	0.999;0.346;1.0	D	0.89504	0.3766	9	0.62326	D	0.03	.	7.4346	0.27148	0.3136:0.0:0.6864:0.0	.	1851;1810;1818	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1851;1843;1818;1594;1851	ENSP00000406273:Q1851H;ENSP00000366169:Q1843H;ENSP00000407879:Q1818H;ENSP00000262269:Q1851H	ENSP00000262269:Q1851H	Q	+	3	2	MYH14	55496813	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.881000	0.56152	0.491000	0.27793	0.591000	0.81541	CAG		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		T	50805001	G	T	50805001	3	4	102	1	0	0	0	0	1	0	0	0	10033	933	33	3	5707	3	MYH14	19	50805001	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09	8008539	50805001	8323982	49	5488											
NCOA6	23054	genome.wustl.edu	37	20	33328652	33328652	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chr20:33328652G>T	ENST00000374796.2	-	12	7978	c.5408C>A	c.(5407-5409)tCc>tAc	p.S1803Y	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1803Y			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1803	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.S1803Y(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GTTGCCAGAGGACCCTGGACT	0.488																																																1	Substitution - Missense(1)	ovary(1)	20											79	78	78					20																	33328652		2203	4300	6503	32792313	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5408C>A	20.37:g.33328652G>T	ENSP00000363929:p.Ser1803Tyr		32792313	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430343	0.62844	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.26223	1.75;1.75	5.65	4.7	0.59300	.	0.280434	0.31531	N	0.007485	T	0.15998	0.0385	N	0.19112	0.55	0.33858	D	0.633442	B	0.30406	0.278	B	0.31337	0.128	T	0.19095	-1.0316	10	0.52906	T	0.07	-7.4797	7.2237	0.26003	0.0836:0.0:0.7484:0.168	.	1803	Q14686	NCOA6_HUMAN	Y	1803	ENSP00000363929:S1803Y;ENSP00000351894:S1803Y	ENSP00000351894:S1803Y	S	-	2	0	NCOA6	32792313	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.428000	0.59894	1.621000	0.50320	0.655000	0.94253	TCC		0.488	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		T	33328652	G	T	33328652	3	4	102	1	0	0	0	0	1	0	0	0	10233	1174	41	3	803	3	NCOA6	20	33328652	Missense_Mutation	SNP	G	TCGA-13-0897-01A-01W-0421-09		33328652	29696868	50	5489											
MAGEH1	28986	genome.wustl.edu	37	X	55479307	55479307	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chrX:55479307C>T	ENST00000342972.1	+	1	770	c.500C>T	c.(499-501)gCa>gTa	p.A167V	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	167	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)		p.A167V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						GGGCCCCGAGCACACGTGGAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	X											98	94	95					X																	55479307		2203	4300	6503	55496032	SO:0001583	missense	28986			AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.500C>T	X.37:g.55479307C>T	ENSP00000343706:p.Ala167Val		55496032	B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	ENST00000342972.1	37	CCDS14369.1	.	.	.	.	.	.	.	.	.	.	.	12.94	2.088483	0.36855	.	.	ENSG00000187601	ENST00000342972	T	0.06933	3.24	3.17	3.17	0.36434	.	0.000000	0.33792	N	0.004542	T	0.23727	0.0574	M	0.73217	2.22	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.00909	-1.1518	10	0.87932	D	0	-2.8977	8.9766	0.35939	0.0:1.0:0.0:0.0	.	167	Q9H213	MAGH1_HUMAN	V	167	ENSP00000343706:A167V	ENSP00000343706:A167V	A	+	2	0	MAGEH1	55496032	0.885000	0.30320	0.265000	0.24526	0.005000	0.04900	2.657000	0.46724	1.850000	0.53721	0.597000	0.82753	GCA		0.507	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		T	55479307	C	T	55479307	3	4	102	1	0	0	0	0	1	0	0	0	9188	710	25	2	502	2	MAGEH1	23	55479307	Missense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09		55479307	99791253	51	5490											
NLGN3	54413	genome.wustl.edu	37	X	70387453	70387453	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-0897-01A-01W-0421-09	TCGA-13-0897-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f48ed68f-a833-4b78-971a-3c746c563d24	79248f7f-c436-4ccd-9859-2f5676e0c942	g.chrX:70387453C>G	ENST00000358741.3	+	7	1809	c.1506C>G	c.(1504-1506)taC>taG	p.Y502*	NLGN3_ENST00000374051.3_Nonsense_Mutation_p.Y482*|NLGN3_ENST00000536169.1_Nonsense_Mutation_p.Y462*|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	502					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.Y482*(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGCCTACCTACTTCTACGCCT	0.562																																					Esophageal Squamous(103;760 1488 16849 22250 40351)											1	Substitution - Nonsense(1)	ovary(1)	X											90	74	79					X																	70387453		2203	4300	6503	70304178	SO:0001587	stop_gained	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1506C>G	X.37:g.70387453C>G	ENSP00000351591:p.Tyr502*		70304178	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Nonsense_Mutation	SNP	ENST00000358741.3	37	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	37	6.289743	0.97444	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	.	.	.	4.66	0.626	0.17670	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2745	0.43501	0.0:0.6682:0.0:0.3318	.	.	.	.	X	462;482;462;502	.	ENSP00000351591:Y502X	Y	+	3	2	NLGN3	70304178	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.594000	0.46189	0.100000	0.17581	-0.312000	0.09012	TAC		0.562	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		G	70387453	C	G	70387453	4	3	102	1	0	0	0	0	0	1	0	0	10463	576	20	3	1528	3	NLGN3	23	70387453	Nonsense_Mutation	SNP	C	TCGA-13-0897-01A-01W-0421-09	14908146	70387453	84883107	52	5491											
DUSP27	92235	broad.mit.edu	37	1	167095770	167095770	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr1:167095770G>A	ENST00000361200.2	+	6	1568	c.1402G>A	c.(1402-1404)Gca>Aca	p.A468T	DUSP27_ENST00000271385.5_Missense_Mutation_p.A468T|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.A468T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	468					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A468T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGGCGCCGCGCAGACTCGAT	0.652																																																1	Substitution - Missense(1)	ovary(1)	1											22	22	22					1																	167095770		2202	4300	6502	165362394	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1402G>A	1.37:g.167095770G>A	ENSP00000354483:p.Ala468Thr		165362394	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	7.926	0.739646	0.15642	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03004	4.08;4.08;4.08	5.02	1.26	0.21427	.	0.382941	0.24476	N	0.038182	T	0.00580	0.0019	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46456	-0.9190	10	0.26408	T	0.33	-1.9731	5.9806	0.19405	0.275:0.0:0.3482:0.3768	.	468	Q5VZP5	DUS27_HUMAN	T	468	ENSP00000354483:A468T;ENSP00000271385:A468T;ENSP00000404874:A468T	ENSP00000271385:A468T	A	+	1	0	DUSP27	165362394	0.193000	0.23313	0.639000	0.29394	0.198000	0.23893	0.345000	0.19979	-0.055000	0.13244	-1.215000	0.01618	GCA		0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167095770	G	A	167095770	3	1	103	1	0	0	0	0	1	0	0	0	4824	1087	38	1	1420	1	DUSP27	1	167095770	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08		167095770	82154851	1	5492											
SLC4A5	57835	broad.mit.edu	37	2	74459626	74459626	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr2:74459626G>A	ENST00000377634.4	-	24	3143	c.2744C>T	c.(2743-2745)cCt>cTt	p.P915L	SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P915L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P813L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P915L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P915L|SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P915L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.P813L					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.P915L(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTGCTCCCCAGGGGCACTGGT	0.627																																																1	Substitution - Missense(1)	ovary(1)	2											70	77	75					2																	74459626		2203	4300	6503	74313134	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2744C>T	2.37:g.74459626G>A	ENSP00000366861:p.Pro915Leu		74313134		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912805	0.92178	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634	D;D;T;T;D;D;D	0.88431	-2.38;-2.38;-1.29;-1.29;-2.38;-2.38;-2.38	5.12	5.12	0.69794	Bicarbonate transporter, C-terminal (1);	0.107097	0.64402	D	0.000004	D	0.95802	0.8634	M	0.93638	3.44	0.80722	D	1	D;D;P;D	0.89917	0.996;0.979;0.88;1.0	D;P;P;D	0.80764	0.937;0.897;0.752;0.994	D	0.96522	0.9386	10	0.72032	D	0.01	.	16.111	0.81263	0.0:0.0:1.0:0.0	.	915;813;915;915	Q9BY07-4;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;S4A5_HUMAN;.	L	915;915;915;813;813;915;915;915	ENSP00000377587:P915L;ENSP00000251768:P915L;ENSP00000352461:P813L;ENSP00000351513:P813L;ENSP00000350475:P915L;ENSP00000366859:P915L;ENSP00000366861:P915L	ENSP00000251768:P915L	P	-	2	0	SLC4A5	74313134	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	9.544000	0.98092	2.681000	0.91329	0.563000	0.77884	CCT		0.627	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			A	74459626	G	A	74459626	3	1	103	1	0	0	0	0	1	0	0	0	14660	1000	35	2	701	2	SLC4A5	2	74459626	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08		74459626	168739747	2	5493											
SCN2A	6326	broad.mit.edu	37	2	166198844	166198844	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr2:166198844G>T	ENST00000375437.2	+	15	2717	c.2427G>T	c.(2425-2427)aaG>aaT	p.K809N	SCN2A_ENST00000375427.2_Missense_Mutation_p.K809N|SCN2A_ENST00000283256.6_Missense_Mutation_p.K809N|SCN2A_ENST00000357398.3_Missense_Mutation_p.K809N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	809					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K809N(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTTTCTCAAGATAATTGCCA	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											133	136	135					2																	166198844		2203	4300	6503	165907090	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2427G>T	2.37:g.166198844G>T	ENSP00000364586:p.Lys809Asn		165907090	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288666	0.80914	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.99129	-5.46;-5.46;-5.46;-5.46	5.59	3.8	0.43715	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99521	0.9829	H	0.97896	4.1	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98321	1.0528	10	0.87932	D	0	.	11.4895	0.50373	0.1437:0.0:0.8563:0.0	.	809;809	Q99250-2;Q99250	.;SCN2A_HUMAN	N	809	ENSP00000364586:K809N;ENSP00000349973:K809N;ENSP00000283256:K809N;ENSP00000364576:K809N	ENSP00000283256:K809N	K	+	3	2	SCN2A	165907090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.533000	0.53561	0.729000	0.32403	0.643000	0.83706	AAG		0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166198844	G	T	166198844	3	4	103	1	0	0	0	0	1	0	0	0	13919	933	33	3	2577	3	SCN2A	2	166198844	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08	91739218	166198844	77000529	3	5494											
FAM171B	165215	broad.mit.edu	37	2	187615987	187615987	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr2:187615987G>C	ENST00000304698.5	+	5	1054	c.851G>C	c.(850-852)aGt>aCt	p.S284T		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	284						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.S284T(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATGATATAAGTGCAGGGGAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											87	91	89					2																	187615987		2203	4300	6503	187324232	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.851G>C	2.37:g.187615987G>C	ENSP00000304108:p.Ser284Thr		187324232	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	2.679	-0.275873	0.05679	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.29917	1.55	5.49	0.836	0.18891	.	0.422543	0.29053	N	0.013297	T	0.12263	0.0298	N	0.04508	-0.205	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.15870	0.014;0.014	T	0.25882	-1.0119	10	0.25751	T	0.34	-2.1067	8.3902	0.32524	0.7768:0.0:0.2232:0.0	.	284;285	Q6P995;A8K122	F171B_HUMAN;.	T	284	ENSP00000304108:S284T	ENSP00000272804:S284T	S	+	2	0	FAM171B	187324232	0.636000	0.27207	0.018000	0.16275	0.232000	0.25224	1.263000	0.33004	-0.006000	0.14370	0.609000	0.83330	AGT		0.363	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		C	187615987	G	C	187615987	3	2	103	1	0	0	0	0	1	0	0	0	5491	1029	36	3	869	3	FAM171B	2	187615987	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08	21417143	187615987	55583386	4	5495											
THAP9	79725	broad.mit.edu	37	4	83838349	83838349	+	Silent	SNP	T	T	C			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr4:83838349T>C	ENST00000302236.5	+	5	1035	c.984T>C	c.(982-984)ggT>ggC	p.G328G	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	328					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.G328G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TGGCAGTGGGTATTTTTGGCC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	4											124	120	121					4																	83838349		2203	4300	6503	84057373	SO:0001819	synonymous_variant	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.984T>C	4.37:g.83838349T>C			84057373	B3KRE2|Q59AC9	Silent	SNP	ENST00000302236.5	37	CCDS3598.1																																																																																				0.423	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		C	83838349	T	C	83838349	2	2	103	1	0	0	0	0	0	0	0	1	15851	1625	57	4		4	THAP9	4	83838349	Silent	SNP	T	TCGA-13-0899-01A-01W-0420-08		83838349	107315927	5	5496											
MAB21L2	10586	broad.mit.edu	37	4	151504974	151504974	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr4:151504974C>A	ENST00000317605.4	+	1	1898	c.793C>A	c.(793-795)Ccc>Acc	p.P265T	LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	265					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.P265T(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCTGGAGCTACCCGGCCAGCC	0.627																																																1	Substitution - Missense(1)	ovary(1)	4											52	52	52					4																	151504974		2203	4300	6503	151724424	SO:0001583	missense	10586			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.793C>A	4.37:g.151504974C>A	ENSP00000324701:p.Pro265Thr		151724424	B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113648	0.37339	.	.	ENSG00000181541	ENST00000317605	T	0.07800	3.16	5.14	4.29	0.51040	Ricin B lectin (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	L	0.59436	1.845	0.80722	D	1	B	0.23990	0.095	B	0.25987	0.065	T	0.06481	-1.0824	10	0.09590	T	0.72	-18.0284	16.0884	0.81073	0.0:0.8659:0.1341:0.0	.	265	Q9Y586	MB212_HUMAN	T	265	ENSP00000324701:P265T	ENSP00000324701:P265T	P	+	1	0	MAB21L2	151724424	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	6.022000	0.70839	1.263000	0.44181	0.462000	0.41574	CCC		0.627	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		A	151504974	C	A	151504974	3	1	103	1	0	0	0	0	1	0	0	0	9142	507	18	3	795	3	MAB21L2	4	151504974	Missense_Mutation	SNP	C	TCGA-13-0899-01A-01W-0420-08	67666625	151504974	39649302	6	5497											
KIF2A	3796	broad.mit.edu	37	5	61668334	61668334	+	Intron	SNP	C	C	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr5:61668334C>T	ENST00000401507.3	+	17	1957				KIF2A_ENST00000407818.3_Silent_p.L572L|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000381103.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GCCCTGATCTCTCTCCTTCTT	0.388																																																0			5											92	88	89					5																	61668334		1861	4105	5966	61704091	SO:0001627	intron_variant	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1647-1180C>T	5.37:g.61668334C>T			61704091	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Silent	SNP	ENST00000401507.3	37	CCDS3980.2																																																																																				0.388	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		T	61668334	C	T	61668334	1	4	103	0	1	0	0	0	0	0	0	0	8297	900	32	2		2	KIF2A	5	61668334	Intron	SNP	C	TCGA-13-0899-01A-01W-0420-08		61668334	119246926	7	5498											
PCDHA13	56136	broad.mit.edu	37	5	140262567	140262567	+	Silent	SNP	C	C	T	rs139888237	byFrequency	TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr5:140262567C>T	ENST00000289272.2	+	1	714	c.714C>T	c.(712-714)aaC>aaT	p.N238N	PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.N238N|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N238N(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATGACAACGCCCCGGAAT	0.453													.|||	2	0.000399361	0	0	5008	,	,		19765	0.002		0	False		,,,				2504	0				Melanoma(147;1739 1852 5500 27947 37288)											1	Substitution - coding silent(1)	ovary(1)	5											67	65	66					5																	140262567		2203	4300	6503	140242751	SO:0001819	synonymous_variant	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.714C>T	5.37:g.140262567C>T			140242751	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																				0.453	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140262567	C	T	140262567	2	4	103	1	0	0	0	0	0	0	0	1	11523	535	19	1		1	PCDHA13	5	140262567	Silent	SNP	C	TCGA-13-0899-01A-01W-0420-08	78594233	140262567	40652693	8	5499											
ZFP57	4340	broad.mit.edu	37	6	29641002	29641002	+	IGR	SNP	T	T	G			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr6:29641002T>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Silent_p.R296R|ZFP57_ENST00000376881.3_Silent_p.R276R|ZFP57_ENST00000376883.1_Silent_p.R276R	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R276R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCTGGAATCCTCAAAGTACAC	0.557																																																1	Substitution - coding silent(1)	ovary(1)	6											153	160	158					6																	29641002		1240	2546	3786	29748981	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641002T>G			29748981	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	CCDS34370.1																																																																																				0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		G	29641002	T	G	29641002	1	3	103	0	1	0	0	0	0	0	0	0	17651	1550	54	5		5	ZFP57	6	29641002	IGR	SNP	T	TCGA-13-0899-01A-01W-0420-08		29641002	141474065	9	5500											
MAPK14	1432	broad.mit.edu	37	6	35995964	35995964	+	Silent	SNP	G	G	C			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr6:35995964G>C	ENST00000229794.4	+	1	418	c.30G>C	c.(28-30)cgG>cgC	p.R10R	MAPK14_ENST00000229795.3_Silent_p.R10R|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Silent_p.R10R	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	10					3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.R10R(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						CGTTCTACCGGCAGGAGCTGA	0.657																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)											1	Substitution - coding silent(1)	ovary(1)	6											58	60	59					6																	35995964		2203	4300	6503	36103942	SO:0001819	synonymous_variant	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"Mitogen-activated protein kinase cascade / Kinases"	6876	protein-coding gene	gene with protein product	"p38 MAP kinase"	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.30G>C	6.37:g.35995964G>C			36103942	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Silent	SNP	ENST00000229794.4	37	CCDS4816.1																																																																																				0.657	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		C	35995964	G	C	35995964	2	2	103	1	0	0	0	0	0	0	0	1	9276	1190	42	3		3	MAPK14	6	35995964	Silent	SNP	G	TCGA-13-0899-01A-01W-0420-08	6354962	35995964	135119103	10	5501											
OPRM1	4988	broad.mit.edu	37	6	154411138	154411138	+	Silent	SNP	C	C	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr6:154411138C>T	ENST00000330432.7	+	2	705	c.468C>T	c.(466-468)agC>agT	p.S156S	OPRM1_ENST00000434900.2_Silent_p.S249S|OPRM1_ENST00000520708.1_Silent_p.S56S|OPRM1_ENST00000414028.2_Silent_p.S156S|OPRM1_ENST00000428397.2_Silent_p.S156S|OPRM1_ENST00000337049.4_Silent_p.S156S|OPRM1_ENST00000229768.5_Silent_p.S156S|OPRM1_ENST00000452687.2_Silent_p.S156S|OPRM1_ENST00000518759.1_Silent_p.S75S|OPRM1_ENST00000419506.2_Silent_p.S156S|OPRM1_ENST00000524163.1_Silent_p.S156S|OPRM1_ENST00000522236.1_Silent_p.S56S|OPRM1_ENST00000360422.4_Silent_p.S156S|OPRM1_ENST00000522555.1_Silent_p.S56S|OPRM1_ENST00000435918.2_Silent_p.S156S	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	156					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.S156S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGTTCACCAGCATATTCACCC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	6											254	246	249					6																	154411138		2145	4269	6414	154452831	SO:0001819	synonymous_variant	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.468C>T	6.37:g.154411138C>T			154452831	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	CCDS55070.1																																																																																				0.443	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		T	154411138	C	T	154411138	2	4	103	1	0	0	0	0	0	0	0	1	10887	709	25	2		2	OPRM1	6	154411138	Silent	SNP	C	TCGA-13-0899-01A-01W-0420-08	118415174	154411138	16703929	11	5502											
TNS3	64759	broad.mit.edu	37	7	47451348	47451348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr7:47451348G>A	ENST00000398879.1	-	13	1066	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	TNS3_ENST00000311160.9_Nonsense_Mutation_p.Q234*|TNS3_ENST00000355730.3_Nonsense_Mutation_p.Q234*|TNS3_ENST00000442536.2_Nonsense_Mutation_p.Q234*|TNS3_ENST00000458317.2_Nonsense_Mutation_p.Q234*			Q68CZ2	TENS3_HUMAN	tensin 3	234	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.Q234*(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTCAGAAGCTGGGCCGGCTCG	0.517																																																1	Substitution - Nonsense(1)	ovary(1)	7											57	65	62					7																	47451348		2054	4177	6231	47417873	SO:0001587	stop_gained	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.700C>T	7.37:g.47451348G>A	ENSP00000381854:p.Gln234*		47417873	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Nonsense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	39	7.812107	0.98504	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	.	.	.	5.17	5.17	0.71159	.	0.060006	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-29.1564	14.219	0.65812	0.0:0.0:1.0:0.0	.	.	.	.	X	234;344;234;234;337;323;234;234	.	ENSP00000312143:Q234X	Q	-	1	0	TNS3	47417873	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.807000	0.86032	2.416000	0.81992	0.555000	0.69702	CAG		0.517	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		A	47451348	G	A	47451348	4	1	103	1	0	0	0	0	0	1	0	0	16344	1357	47	2	3713	2	TNS3	7	47451348	Nonsense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08		47451348	111687315	12	5503											
AKAP9	10142	broad.mit.edu	37	7	91709382	91709382	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr7:91709382A>T	ENST00000359028.2	+	32	8196	c.7971A>T	c.(7969-7971)gaA>gaT	p.E2657D	AKAP9_ENST00000356239.3_Missense_Mutation_p.E2645D|AKAP9_ENST00000358100.2_Missense_Mutation_p.E2657D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2657	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E2645D(1)|p.E2657D(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCTGCTAGAACTACAGAAGC	0.323			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	ovary(2)	7											21	24	23					7																	91709382		2116	4254	6370	91547318	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7971A>T	7.37:g.91709382A>T	ENSP00000351922:p.Glu2657Asp		91547318	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	A	11.89	1.775147	0.31411	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03920	3.84;3.84;3.83;3.76	4.69	-3.71	0.04424	.	0.405503	0.18120	N	0.151090	T	0.06872	0.0175	M	0.67953	2.075	0.23331	N	0.997895	P;P;P;P	0.46142	0.728;0.799;0.873;0.873	B;B;P;P	0.44811	0.366;0.272;0.461;0.461	T	0.13176	-1.0519	10	0.52906	T	0.07	.	8.8601	0.35251	0.4318:0.111:0.4572:0.0	.	2649;2657;2645;2637	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	D	2645;2657;2657;2649;491	ENSP00000348573:E2645D;ENSP00000351922:E2657D;ENSP00000350813:E2657D;ENSP00000378042:E491D	ENSP00000348573:E2645D	E	+	3	2	AKAP9	91547318	0.984000	0.35163	0.311000	0.25182	0.642000	0.38348	0.142000	0.16096	-0.268000	0.09312	0.482000	0.46254	GAA		0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91709382	A	T	91709382	3	4	103	1	0	0	0	0	1	0	0	0	459	40	2	5	8057	5	AKAP9	7	91709382	Missense_Mutation	SNP	A	TCGA-13-0899-01A-01W-0420-08	44258034	91709382	67429281	13	5504											
ORAI2	80228	broad.mit.edu	37	7	102079522	102079522	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr7:102079522C>T	ENST00000356387.2	+	3	354	c.119C>T	c.(118-120)tCt>tTt	p.S40F	ORAI2_ENST00000473939.1_Missense_Mutation_p.S40F|ORAI2_ENST00000403646.3_Missense_Mutation_p.S40F|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000478730.2_Missense_Mutation_p.S40F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	40						growth cone (GO:0030426)|integral component of membrane (GO:0016021)		p.S40F(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CTGGTCACCTCTAACCACCAC	0.647																																																1	Substitution - Missense(1)	ovary(1)	7											90	76	81					7																	102079522		2203	4300	6503	101866527	SO:0001583	missense	80228			AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"ORAI calcium release-activated calcium modulators"	21667	protein-coding gene	gene with protein product	"CAP-binding protein complex interacting protein 2"	610929	"chromosome 7 open reading frame 19", "transmembrane protein 142B"	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.119C>T	7.37:g.102079522C>T	ENSP00000348752:p.Ser40Phe		101866527	Q6IA68|Q8WY94|Q9H9Y3	Missense_Mutation	SNP	ENST00000356387.2	37	CCDS5722.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142524	0.77888	.	.	ENSG00000160991	ENST00000495936;ENST00000356387;ENST00000478730;ENST00000468241;ENST00000403646;ENST00000498661;ENST00000473939	T;T;T;T;T;T;T	0.47869	1.44;1.44;1.44;1.43;1.44;0.83;1.44	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	N	0.24115	0.695	0.58432	D	0.99999	P	0.40302	0.712	B	0.34824	0.19	T	0.12319	-1.0552	9	.	.	.	-3.2051	16.4438	0.83909	0.0:1.0:0.0:0.0	.	40	Q96SN7	ORAI2_HUMAN	F	40	ENSP00000420178:S40F;ENSP00000348752:S40F;ENSP00000418140:S40F;ENSP00000417407:S40F;ENSP00000385489:S40F;ENSP00000418464:S40F;ENSP00000417928:S40F	.	S	+	2	0	ORAI2	101866527	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.712000	0.61888	2.349000	0.79799	0.563000	0.77884	TCT		0.647	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		T	102079522	C	T	102079522	3	4	103	1	0	0	0	0	1	0	0	0	11258	913	32	2	121	2	ORAI2	7	102079522	Missense_Mutation	SNP	C	TCGA-13-0899-01A-01W-0420-08	10370140	102079522	57059141	14	5505											
ZNF7	7553	broad.mit.edu	37	8	146068062	146068062	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr8:146068062C>T	ENST00000528372.1	+	5	1810	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	ZNF7_ENST00000325241.6_Missense_Mutation_p.P524S|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.P428S|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.P535S			P17097	ZNF7_HUMAN	zinc finger protein 7	524					multicellular organismal development (GO:0007275)|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.P524S(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGGAGAGAAGCCCTACGAATG	0.448																																																1	Substitution - Missense(1)	ovary(1)	8											79	85	83					8																	146068062		2203	4300	6503	146038866	SO:0001583	missense	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1570C>T	8.37:g.146068062C>T	ENSP00000432724:p.Pro524Ser		146038866	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671079	0.67814	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.75	4.75	0.60458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000274	T	0.50154	0.1599	L	0.54863	1.705	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.42241	-0.9463	9	.	.	.	-16.9102	16.6673	0.85256	0.0:1.0:0.0:0.0	.	535;524	B4DT08;P17097	.;ZNF7_HUMAN	S	524;535;428;524	ENSP00000320627:P524S;ENSP00000393260:P535S;ENSP00000439424:P428S;ENSP00000432724:P524S	.	P	+	1	0	ZNF7	146038866	0.621000	0.27077	0.942000	0.38095	0.866000	0.49608	2.500000	0.45381	2.462000	0.83206	0.655000	0.94253	CCC		0.448	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		T	146068062	C	T	146068062	3	4	103	1	0	0	0	0	1	0	0	0	18102	739	26	2	1584	2	ZNF7	8	146068062	Missense_Mutation	SNP	C	TCGA-13-0899-01A-01W-0420-08		146068062	295960	15	5506											
TET1	80312	broad.mit.edu	37	10	70451227	70451227	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr10:70451227G>A	ENST00000373644.4	+	12	6276	c.6067G>A	c.(6067-6069)Gcc>Acc	p.A2023T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2023					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.A2023T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GATTGAGTGTGCCCGGCGAGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											104	97	100					10																	70451227		2203	4300	6503	70121233	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6067G>A	10.37:g.70451227G>A	ENSP00000362748:p.Ala2023Thr		70121233	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960196	0.92791	.	.	ENSG00000138336	ENST00000373644	T	0.21031	2.03	5.6	5.6	0.85130	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.103999	0.64402	D	0.000003	T	0.51432	0.1674	M	0.77313	2.365	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.52215	-0.8605	10	0.87932	D	0	.	19.9855	0.97347	0.0:0.0:1.0:0.0	.	2023	Q8NFU7	TET1_HUMAN	T	2023	ENSP00000362748:A2023T	ENSP00000362748:A2023T	A	+	1	0	TET1	70121233	1.000000	0.71417	0.985000	0.45067	0.468000	0.32798	9.378000	0.97191	2.806000	0.96561	0.655000	0.94253	GCC		0.507	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		A	70451227	G	A	70451227	3	1	103	1	0	0	0	0	1	0	0	0	15769	1319	46	2	6109	2	TET1	10	70451227	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08		70451227	65083520	16	5507											
CCAR1	55749	broad.mit.edu	37	10	70547778	70547778	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr10:70547778C>T	ENST00000265872.6	+	22	3094	c.2975C>T	c.(2974-2976)tCt>tTt	p.S992F	CCAR1_ENST00000535016.1_Missense_Mutation_p.S977F|CCAR1_ENST00000543719.1_Missense_Mutation_p.S977F	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	992					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.S992F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CATGAAGAGTCTGAGTCATTG	0.308																																																1	Substitution - Missense(1)	ovary(1)	10											73	76	75					10																	70547778		2203	4300	6503	70217784	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2975C>T	10.37:g.70547778C>T	ENSP00000265872:p.Ser992Phe		70217784	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181481	0.57800	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539	T;T;T;T	0.00363	7.83;7.83;7.83;7.83	5.41	3.5	0.40072	.	0.273216	0.38005	N	0.001844	T	0.00412	0.0013	L	0.43152	1.355	0.35413	D	0.792579	D	0.61080	0.989	P	0.56700	0.804	T	0.79524	-0.1768	10	0.59425	D	0.04	-2.9755	10.0991	0.42493	0.0:0.6686:0.2609:0.0705	.	992	Q8IX12	CCAR1_HUMAN	F	992;977;977;977	ENSP00000265872:S992F;ENSP00000441820:S977F;ENSP00000445254:S977F;ENSP00000439252:S977F	ENSP00000265872:S992F	S	+	2	0	CCAR1	70217784	0.005000	0.15991	0.844000	0.33320	0.965000	0.64279	1.286000	0.33273	0.599000	0.29845	0.563000	0.77884	TCT		0.308	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		T	70547778	C	T	70547778	3	4	103	1	0	0	0	0	1	0	0	0	2730	913	32	2	3057	2	CCAR1	10	70547778	Missense_Mutation	SNP	C	TCGA-13-0899-01A-01W-0420-08	96551	70547778	64986969	17	5508											
SHISA2	387914	broad.mit.edu	37	13	26620663	26620663	+	Silent	SNP	C	C	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr13:26620663C>T	ENST00000319420.3	-	2	931	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	292					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A292A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						ATACAGTCACCGCTGGGTACA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	13											83	76	79					13																	26620663		2203	4300	6503	25518663	SO:0001819	synonymous_variant	387914				CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.876G>A	13.37:g.26620663C>T			25518663	B9EH70|Q5W0G8	Silent	SNP	ENST00000319420.3	37	CCDS31951.1																																																																																				0.557	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		T	26620663	C	T	26620663	2	4	103	1	0	0	0	0	0	0	0	1	14283	639	23	1		1	SHISA2	13	26620663	Silent	SNP	C	TCGA-13-0899-01A-01W-0420-08		26620663	88549215	18	5509											
CGNL1	84952	broad.mit.edu	37	15	57730517	57730517	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr15:57730517C>T	ENST00000281282.5	+	2	398	c.320C>T	c.(319-321)cCa>cTa	p.P107L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	107	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.P107L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCAGAAAACCCATACGCCCAG	0.498																																																1	Substitution - Missense(1)	ovary(1)	15											44	48	47					15																	57730517		2192	4292	6484	55517809	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.320C>T	15.37:g.57730517C>T	ENSP00000281282:p.Pro107Leu		55517809	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	7.707	0.694429	0.15039	.	.	ENSG00000128849	ENST00000281282	T	0.78364	-1.17	4.88	4.88	0.63580	.	0.141249	0.33040	N	0.005359	T	0.74574	0.3734	M	0.66939	2.045	0.47276	D	0.999377	P	0.49090	0.919	B	0.40165	0.321	T	0.79117	-0.1935	10	0.62326	D	0.03	-19.7895	12.8111	0.57639	0.1744:0.8255:0.0:0.0	.	107	Q0VF96	CGNL1_HUMAN	L	107	ENSP00000281282:P107L	ENSP00000281282:P107L	P	+	2	0	CGNL1	55517809	0.992000	0.36948	0.890000	0.34922	0.010000	0.07245	3.665000	0.54532	2.522000	0.85027	0.655000	0.94253	CCA		0.498	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		T	57730517	C	T	57730517	3	4	103	1	0	0	0	0	1	0	0	0	3304	594	21	2	322	2	CGNL1	15	57730517	Missense_Mutation	SNP	C	TCGA-13-0899-01A-01W-0420-08		57730517	44800875	19	5510											
MCTP2	55784	broad.mit.edu	37	15	94910908	94910908	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr15:94910908G>T	ENST00000357742.4	+	10	1376	c.1376G>T	c.(1375-1377)gGg>gTg	p.G459V	MCTP2_ENST00000331706.4_Missense_Mutation_p.G47V|MCTP2_ENST00000451018.3_Missense_Mutation_p.G459V|MCTP2_ENST00000557742.1_Missense_Mutation_p.G47V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	459					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.G459V(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGCTGTCTGGGGGCTCTCCTT	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											85	87	86					15																	94910908		2197	4298	6495	92711912	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1376G>T	15.37:g.94910908G>T	ENSP00000350377:p.Gly459Val		92711912	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376368	0.82682	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.78707	1.77;-1.2;1.77	5.33	5.33	0.75918	C2 calcium/lipid-binding domain, CaLB (1);	0.050716	0.85682	D	0.000000	D	0.88724	0.6514	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.982;1.0;1.0	D	0.89878	0.4028	10	0.87932	D	0	.	19.0292	0.92948	0.0:0.0:1.0:0.0	.	459;47;459	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	V	459;47;459	ENSP00000395109:G459V;ENSP00000329646:G47V;ENSP00000350377:G459V	ENSP00000329646:G47V	G	+	2	0	MCTP2	92711912	1.000000	0.71417	0.804000	0.32291	0.991000	0.79684	8.162000	0.89657	2.490000	0.84030	0.650000	0.86243	GGG		0.527	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		T	94910908	G	T	94910908	3	4	103	1	0	0	0	0	1	0	0	0	9401	1232	43	3	1414	3	MCTP2	15	94910908	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08	37180391	94910908	7620484	20	5511											
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr17:7576897G>A	ENST00000269305.4	-	9	1138	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*	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	317	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(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)	TTCTTTGGCTGGGGAGAGGAG	0.473		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"	46	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Unknown(1)	breast(7)|large_intestine(5)|skin(4)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|ovary(3)|central_nervous_system(2)|lung(2)|NS(2)|pancreas(2)|thyroid(1)|stomach(1)|soft_tissue(1)|liver(1)|endometrium(1)|oesophagus(1)	17											129	119	122					17																	7576897		2203	4300	6503	7517622	SO:0001587	stop_gained	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.949C>T	17.37:g.7576897G>A	ENSP00000269305:p.Gln317*		7517622	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032676	0.93575	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.96	2.84	0.33178	.	1.146690	0.06159	N	0.675692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.0856	5.403	0.16306	0.1029:0.0:0.6855:0.2116	.	.	.	.	X	317;317;317;317;317;306;185	.	ENSP00000269305:Q317X	Q	-	1	0	TP53	7517622	0.001000	0.12720	0.022000	0.16811	0.871000	0.50021	0.741000	0.26202	1.318000	0.45170	0.561000	0.74099	CAG		0.473	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7576897	G	A	7576897	4	1	103	1	0	0	0	0	0	1	0	0	16381	1357	47	2	333	2	TP53	17	7576897	Nonsense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08		7576897	73618313	21	5512											
DHX8	1659	broad.mit.edu	37	17	41570102	41570102	+	Missense_Mutation	SNP	G	G	A	rs377681392		TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr17:41570102G>A	ENST00000262415.3	+	6	629	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	DHX8_ENST00000540306.1_Missense_Mutation_p.R186Q	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	186	Arg/Ser-rich (RS domain).				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R186Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		aaccgagatcgagacagagat	0.483																																					NSCLC(56;1548 1661 49258 49987)											1	Substitution - Missense(1)	ovary(1)	17						G	GLN/ARG	0,4406		0,0,2203	107	103	104		557	5.2	0.2	17		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX8	NM_004941.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	186/1221	41570102	1,13005	2203	4300	6503	38925628	SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.557G>A	17.37:g.41570102G>A	ENSP00000262415:p.Arg186Gln		38925628		Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.346842	0.24426	0.0	1.16E-4	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.58652	0.32;0.32	5.18	5.18	0.71444	.	0.000000	0.41938	D	0.000783	T	0.62841	0.2461	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.69078	0.997;0.983	D;P	0.66847	0.947;0.885	T	0.55742	-0.8093	10	0.13853	T	0.58	.	15.8583	0.79000	0.0:0.0:1.0:0.0	.	186;186	F5H658;Q14562	.;DHX8_HUMAN	Q	186	ENSP00000437886:R186Q;ENSP00000262415:R186Q	ENSP00000262415:R186Q	R	+	2	0	DHX8	38925628	0.893000	0.30496	0.167000	0.22817	0.239000	0.25481	6.052000	0.71080	2.409000	0.81822	0.561000	0.74099	CGA		0.483	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			A	41570102	G	A	41570102	3	1	103	1	0	0	0	0	1	0	0	0	4515	1058	37	1	579	1	DHX8	17	41570102	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08	33993205	41570102	39625108	22	5513											
MEP1B	4225	broad.mit.edu	37	18	29787335	29787335	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr18:29787335C>T	ENST00000269202.6	+	8	715	c.668C>T	c.(667-669)aCa>aTa	p.T223I	MEP1B_ENST00000581447.1_Missense_Mutation_p.T223I	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	223	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T223I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACAGAGCCGACAATTGTCACA	0.398																																																1	Substitution - Missense(1)	ovary(1)	18											73	68	70					18																	29787335		1918	4124	6042	28041333	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.668C>T	18.37:g.29787335C>T	ENSP00000269202:p.Thr223Ile		28041333	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638744	0.67130	.	.	ENSG00000141434	ENST00000269202	T	0.78126	-1.15	5.6	5.6	0.85130	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93642	0.6965	10	0.87932	D	0	-18.2579	19.6094	0.95599	0.0:1.0:0.0:0.0	.	223	Q16820	MEP1B_HUMAN	I	223	ENSP00000269202:T223I	ENSP00000269202:T223I	T	+	2	0	MEP1B	28041333	1.000000	0.71417	0.076000	0.20297	0.174000	0.22865	7.818000	0.86416	2.647000	0.89833	0.591000	0.81541	ACA		0.398	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		T	29787335	C	T	29787335	3	4	103	1	0	0	0	0	1	0	0	0	9476	478	17	2	698	2	MEP1B	18	29787335	Missense_Mutation	SNP	C	TCGA-13-0899-01A-01W-0420-08		29787335	48289913	23	5514											
C19orf47	126526	broad.mit.edu	37	19	40834416	40834416	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr19:40834416G>A	ENST00000582783.1	-	6	466	c.454C>T	c.(454-456)Cca>Tca	p.P152S	C19orf47_ENST00000392035.2_Missense_Mutation_p.P85S	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	152						nucleus (GO:0005634)		p.P85S(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			GTGCTGGGTGGAGAGTCATGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											178	181	180					19																	40834416		2203	4300	6503	45526256	SO:0001583	missense	126526			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.454C>T	19.37:g.40834416G>A	ENSP00000463159:p.Pro152Ser		45526256	Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005708	0.74932	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	D	0.99582	-6.22	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99483	0.9816	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99655	1.0992	10	0.32370	T	0.25	0.1439	17.9782	0.89132	0.0:0.0:1.0:0.0	.	152	Q8N9M1	CS047_HUMAN	S	152;85	ENSP00000375889:P85S	ENSP00000350556:P152S	P	-	1	0	C19orf47	45526256	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	9.091000	0.94151	2.623000	0.88846	0.462000	0.41574	CCA		0.602	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		A	40834416	G	A	40834416	3	1	103	1	0	0	0	0	1	0	0	0	1930	1174	41	2	830	2	C19orf47	19	40834416	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08		40834416	18294567	24	5515											
ZNF331	55422	broad.mit.edu	37	19	54080392	54080392	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr19:54080392G>A	ENST00000253144.9	+	7	1911	c.578G>A	c.(577-579)gGg>gAg	p.G193E	ZNF331_ENST00000511154.1_Missense_Mutation_p.G193E|ZNF331_ENST00000511593.2_Missense_Mutation_p.G193E|ZNF331_ENST00000411977.2_Missense_Mutation_p.G193E|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.G193E|ZNF331_ENST00000512387.1_Missense_Mutation_p.G193E|ZNF331_ENST00000513999.1_Missense_Mutation_p.G193E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G193E(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAAGACTGTGGGAAGGCTTTT	0.438			T	?	follicular thyroid adenoma																																		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	1	Substitution - Missense(1)	ovary(1)	19											63	70	68					19																	54080392		2203	4300	6503	58772204	SO:0001583	missense	55422			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.578G>A	19.37:g.54080392G>A	ENSP00000253144:p.Gly193Glu		58772204	Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312750	0.60414	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35	3.35	3.35	0.38373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59569	0.2203	L	0.61218	1.895	0.27610	N	0.948695	D	0.65815	0.995	P	0.51297	0.665	T	0.55661	-0.8106	9	0.66056	D	0.02	.	12.5614	0.56283	0.0:0.0:1.0:0.0	.	193	Q9NQX6	ZN331_HUMAN	E	193	ENSP00000253144:G193E;ENSP00000427439:G193E;ENSP00000393817:G193E;ENSP00000393336:G193E;ENSP00000421014:G193E;ENSP00000423156:G193E;ENSP00000421728:G193E	ENSP00000253144:G193E	G	+	2	0	ZNF331	58772204	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	4.192000	0.58378	1.872000	0.54250	0.563000	0.77884	GGG		0.438	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		A	54080392	G	A	54080392	3	1	103	1	0	0	0	0	1	0	0	0	17849	1232	43	2	588	2	ZNF331	19	54080392	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08	13245976	54080392	5048591	25	5516											
PLTP	5360	broad.mit.edu	37	20	44538259	44538259	+	Silent	SNP	A	A	C			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr20:44538259A>C	ENST00000477313.1	-	4	975	c.381T>G	c.(379-381)acT>acG	p.T127T	PLTP_ENST00000542937.1_Silent_p.T147T|PLTP_ENST00000372431.3_Silent_p.T127T|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372420.1_Silent_p.T39T			P55058	PLTP_HUMAN	phospholipid transfer protein	127					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.T127T(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCTCCAGACCAGTGCGGATGG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	20											85	86	85					20																	44538259		2203	4300	6503	43971666	SO:0001819	synonymous_variant	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.381T>G	20.37:g.44538259A>C			43971666	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	CCDS13386.1																																																																																				0.582	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		C	44538259	A	C	44538259	2	2	103	1	0	0	0	0	0	0	0	1	12114	175	7	5		5	PLTP	20	44538259	Silent	SNP	A	TCGA-13-0899-01A-01W-0420-08		44538259	18487261	26	5517											
SON	6651	broad.mit.edu	37	21	34925258	34925258	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chr21:34925258G>A	ENST00000356577.4	+	3	4196	c.3721G>A	c.(3721-3723)Gta>Ata	p.V1241I	SON_ENST00000290239.6_Missense_Mutation_p.V1241I|SON_ENST00000381679.4_Missense_Mutation_p.V1241I|SON_ENST00000300278.4_Missense_Mutation_p.V1241I|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1241					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V1241I(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTCAGTTTTAGTATCAGAGGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	21											141	148	145					21																	34925258		2203	4300	6503	33847128	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3721G>A	21.37:g.34925258G>A	ENSP00000348984:p.Val1241Ile		33847128	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126297	0.37533	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.12569	2.86;2.86;2.85;2.67	5.54	2.26	0.28386	.	0.729009	0.12327	N	0.478733	T	0.11665	0.0284	L	0.39898	1.24	0.09310	N	0.999999	B;P;B;B;B	0.36483	0.43;0.555;0.034;0.43;0.43	B;B;B;B;B	0.32211	0.142;0.062;0.036;0.142;0.108	T	0.13872	-1.0493	10	0.52906	T	0.07	.	11.2875	0.49230	0.2433:0.0:0.7567:0.0	.	1241;1241;922;1241;1241	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	I	1241	ENSP00000348984:V1241I;ENSP00000290239:V1241I;ENSP00000300278:V1241I;ENSP00000371095:V1241I	ENSP00000290239:V1241I	V	+	1	0	SON	33847128	0.542000	0.26426	0.820000	0.32676	0.768000	0.43524	1.237000	0.32695	0.692000	0.31613	0.563000	0.77884	GTA		0.473	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		A	34925258	G	A	34925258	3	1	103	1	0	0	0	0	1	0	0	0	14929	1029	36	2	3731	2	SON	21	34925258	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08		34925258	13204637	27	5518											
ACRC	93953	broad.mit.edu	37	X	70823893	70823893	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0899-01A-01W-0420-08	TCGA-13-0899-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae9e84ab-7e0f-42f5-a0a3-94a0011dbd80	3dfe5db0-29ec-40ba-8a59-53b1cbf903cc	g.chrX:70823893G>A	ENST00000373695.1	+	7	1303	c.766G>A	c.(766-768)Gac>Aac	p.D256N	ACRC_ENST00000373696.3_Missense_Mutation_p.D256N			Q96QF7	ACRC_HUMAN	acidic repeat containing	256	Asp/Ser-rich.					nucleus (GO:0005634)		p.D256N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAGCAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	X											36	33	34					X																	70823893		1532	3179	4711	70740618	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.766G>A	X.37:g.70823893G>A	ENSP00000362799:p.Asp256Asn		70740618	B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396470	0.25205	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.37752	1.18;1.18	0.14	0.14	0.14804	.	.	.	.	.	T	0.17704	0.0425	N	0.19112	0.55	0.09310	N	1	D	0.57571	0.98	B	0.37780	0.258	T	0.13629	-1.0502	9	0.36615	T	0.2	.	5.9727	0.19361	6.0E-4:0.0:0.9994:0.0	.	256	Q96QF7	ACRC_HUMAN	N	256	ENSP00000362800:D256N;ENSP00000362799:D256N	ENSP00000362799:D256N	D	+	1	0	ACRC	70740618	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	0.108000	0.15396	0.168000	0.19655	0.169000	0.16792	GAC		0.562	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			A	70823893	G	A	70823893	3	1	103	1	0	0	0	0	1	0	0	0	171	1058	37	1	792	1	ACRC	23	70823893	Missense_Mutation	SNP	G	TCGA-13-0899-01A-01W-0420-08		70823893	84446667	28	5519											
CLCA4	22802	hgsc.bcm.edu	37	1	87036838	87036838	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:87036838T>A	ENST00000370563.3	+	8	1303	c.1261T>A	c.(1261-1263)Tct>Act	p.S421T	CLCA4_ENST00000263723.5_Missense_Mutation_p.S134T|RP4-651E10.4_ENST00000456587.1_RNA|CLCA4_ENST00000496322.1_3'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	421	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.S421T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CACTGCAAGTTCTTGTATTGA	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											277	264	268					1																	87036838		1957	4149	6106	86809426	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1261T>A	1.37:g.87036838T>A	ENSP00000359594:p.Ser421Thr		86809426	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.104787	0.37145	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.13538	2.58;2.58	6.17	-7.53	0.01336	von Willebrand factor, type A (3);	2.223410	0.01193	N	0.007371	T	0.03608	0.0103	L	0.46947	1.48	0.09310	N	1	B	0.14012	0.009	B	0.21360	0.034	T	0.42666	-0.9438	10	0.32370	T	0.25	-0.0342	6.5236	0.22289	0.2436:0.0:0.1957:0.5607	.	421	Q14CN2	CLCA4_HUMAN	T	421;134	ENSP00000359594:S421T;ENSP00000263723:S134T	ENSP00000263723:S134T	S	+	1	0	CLCA4	86809426	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.105000	0.01339	-0.607000	0.05738	-0.438000	0.05819	TCT		0.443	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		A	87036838	T	A	87036838	3	1	104	1	0	0	0	0	1	0	0	0	3459	1783	62	5	1291	5	CLCA4	1	87036838	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10		87036838	162213783	1	5520											
AHCYL1	10768	hgsc.bcm.edu	37	1	110560608	110560608	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:110560608C>T	ENST00000369799.5	+	11	1460	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	AHCYL1_ENST00000393614.4_Missense_Mutation_p.R318W|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R318W	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	365	NAD binding. {ECO:0000250}.				mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.R365W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGAAGTCATCCGGCAAGTCGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											166	152	157					1																	110560608		2203	4300	6503	110362131	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1093C>T	1.37:g.110560608C>T	ENSP00000358814:p.Arg365Trp		110362131	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747747	0.69533	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.78126	-1.15;-1.14;-1.14	6.02	5.09	0.68999	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.86651	2.83	0.80722	D	1	B	0.33807	0.426	B	0.29716	0.106	T	0.78999	-0.1982	10	0.72032	D	0.01	0.1747	16.5388	0.84380	0.1316:0.8684:0.0:0.0	.	365	O43865	SAHH2_HUMAN	W	365;318;318	ENSP00000358814:R365W;ENSP00000352092:R318W;ENSP00000377238:R318W	ENSP00000352092:R318W	R	+	1	2	AHCYL1	110362131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.814000	0.48010	1.503000	0.48686	0.650000	0.86243	CGG		0.413	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			T	110560608	C	T	110560608	3	4	104	1	0	0	0	0	1	0	0	0	410	643	23	1	1135	1	AHCYL1	1	110560608	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	23523770	110560608	138690013	2	5521											
ADORA3	140	hgsc.bcm.edu	37	1	112033360	112033360	+	Silent	SNP	C	C	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:112033360C>T	ENST00000369716.4	-	2	508	c.375G>A	c.(373-375)ggG>ggA	p.G125G	RNU6-792P_ENST00000363490.1_RNA|ADORA3_ENST00000369717.4_Silent_p.G44G	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	250					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.G125G(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATAGAATGCACCCAGGGAGCC	0.448																																																1	Substitution - coding silent(1)	ovary(1)	1											101	95	97					1																	112033360		2203	4300	6503	111834883	SO:0001819	synonymous_variant	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.375G>A	1.37:g.112033360C>T			111834883	A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000369716.4	37	CCDS838.1																																																																																				0.448	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		T	112033360	C	T	112033360	2	4	104	1	0	0	0	0	0	0	0	1	329	494	18	2		2	ADORA3	1	112033360	Silent	SNP	C	TCGA-13-0900-01B-01W-0490-10	1472752	112033360	137217261	3	5522											
ADAM30	11085	hgsc.bcm.edu	37	1	120437576	120437576	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:120437576T>C	ENST00000369400.1	-	1	1542	c.1384A>G	c.(1384-1386)Aat>Gat	p.N462D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	462	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N462D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TCACATTCATTTCCTTCCTGC	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											148	131	137					1																	120437576		2203	4300	6503	120239099	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1384A>G	1.37:g.120437576T>C	ENSP00000358407:p.Asn462Asp		120239099	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725204	0.68959	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10960	2.82	4.97	4.97	0.65823	Blood coagulation inhibitor, Disintegrin (5);	0.270220	0.26007	N	0.026920	T	0.09069	0.0224	L	0.39514	1.22	0.09310	N	1	P	0.46220	0.874	P	0.53760	0.734	T	0.04781	-1.0927	10	0.66056	D	0.02	.	11.0032	0.47618	0.0:0.0:0.0:1.0	.	462	Q9UKF2	ADA30_HUMAN	D	462	ENSP00000358407:N462D	ENSP00000358407:N462D	N	-	1	0	ADAM30	120239099	0.009000	0.17119	0.073000	0.20177	0.397000	0.30659	2.086000	0.41643	2.090000	0.63153	0.460000	0.39030	AAT		0.468	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		C	120437576	T	C	120437576	3	2	104	1	0	0	0	0	1	0	0	0	248	1841	64	4	992	4	ADAM30	1	120437576	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10	8404216	120437576	128813045	4	5523											
NOTCH2	4853	hgsc.bcm.edu	37	1	120493457	120493457	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:120493457T>C	ENST00000256646.2	-	15	2588	c.2369A>G	c.(2368-2370)tAt>tGt	p.Y790C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	790	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.Y790C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCAGTTATAGCCTGTAGA	0.403			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	ovary(1)	1											148	136	140					1																	120493457		2203	4300	6503	120294980	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2369A>G	1.37:g.120493457T>C	ENSP00000256646:p.Tyr790Cys		120294980	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243758	0.39697	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.91631	-2.88	6.06	-0.799	0.10901	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.498082	0.14973	U	0.287693	D	0.84995	0.5596	L	0.36672	1.1	0.25979	N	0.982392	P;P;P	0.48764	0.909;0.915;0.512	P;P;B	0.56474	0.799;0.799;0.432	T	0.77747	-0.2472	10	0.46703	T	0.11	.	6.2548	0.20867	0.3568:0.0:0.2458:0.3973	.	751;790;790	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	C	790;751	ENSP00000256646:Y790C	ENSP00000256646:Y790C	Y	-	2	0	NOTCH2	120294980	0.005000	0.15991	0.889000	0.34880	0.988000	0.76386	0.195000	0.17155	-0.078000	0.12730	0.533000	0.62120	TAT		0.403	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120493457	T	C	120493457	3	2	104	1	0	0	0	0	1	0	0	0	10548	1406	49	4	5126	4	NOTCH2	1	120493457	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10	55881	120493457	128757164	5	5524											
S100A7L2	645922	hgsc.bcm.edu	37	1	153410740	153410740	+	Silent	SNP	T	T	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:153410740T>C	ENST00000368725.2	-	2	98	c.99A>G	c.(97-99)ggA>ggG	p.G33G		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	22	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.G22G(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACCATCATCTCCACTGTATT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	1											180	147	158					1																	153410740		2203	4300	6503	151677364	SO:0001819	synonymous_variant	645922					1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"EF-hand domain containing"	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.99A>G	1.37:g.153410740T>C			151677364		Silent	SNP	ENST00000368725.2	37																																																																																					0.473	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479		C	153410740	T	C	153410740	2	2	104	1	0	0	0	0	0	0	0	1	13788	1538	54	4		4	S100A7L2	1	153410740	Silent	SNP	T	TCGA-13-0900-01B-01W-0490-10	32917283	153410740	95839881	6	5525											
THBS3	7059	hgsc.bcm.edu	37	1	155174662	155174662	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:155174662C>G	ENST00000368378.3	-	4	650	c.630G>C	c.(628-630)gaG>gaC	p.E210D	RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000541576.1_5'Flank|THBS3_ENST00000541990.1_Intron|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	210					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E210D(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			TGTGGATGGACTCGTCCCCTT	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											176	142	154					1																	155174662		2203	4300	6503	153441286	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.630G>C	1.37:g.155174662C>G	ENSP00000357362:p.Glu210Asp		153441286	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693784	0.30052	.	.	ENSG00000169231	ENST00000368378	T	0.81330	-1.48	5.13	-0.12	0.13539	.	0.409718	0.26421	N	0.024465	T	0.42086	0.1187	N	0.19112	0.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.002	T	0.12167	-1.0558	10	0.23302	T	0.38	-22.919	5.7485	0.18134	0.0:0.5111:0.261:0.228	.	210;210;210	Q53FK6;Q2HIZ0;P49746	.;.;TSP3_HUMAN	D	210	ENSP00000357362:E210D	ENSP00000357362:E210D	E	-	3	2	THBS3	153441286	0.009000	0.17119	0.978000	0.43139	0.995000	0.86356	-0.973000	0.03798	-0.082000	0.12640	0.643000	0.83706	GAG		0.537	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		G	155174662	C	G	155174662	3	3	104	1	0	0	0	0	1	0	0	0	15855	564	20	3	2320	3	THBS3	1	155174662	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	1763922	155174662	94075959	7	5526											
CADM3	57863	hgsc.bcm.edu	37	1	159169647	159169647	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:159169647C>A	ENST00000368125.4	+	8	1216	c.1059C>A	c.(1057-1059)caC>caA	p.H353Q	CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Missense_Mutation_p.H387Q	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	353					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.H387Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCCTTGGCCACTACTTGATCC	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											120	93	102					1																	159169647		2203	4300	6503	157436271	SO:0001583	missense	57863			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1059C>A	1.37:g.159169647C>A	ENSP00000357107:p.His353Gln		157436271	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	8.016	0.758569	0.15846	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.54279	0.59;0.58	4.63	3.71	0.42584	Neurexin/syndecan/glycophorin C (1);	0.065599	0.56097	D	0.000039	T	0.30293	0.0760	L	0.46157	1.445	0.33845	D	0.631932	P;P	0.45827	0.456;0.867	B;B	0.41917	0.277;0.37	T	0.07309	-1.0779	10	0.30854	T	0.27	.	13.5759	0.61875	0.0:0.9139:0.0:0.0861	.	353;387	Q8N126;Q8N126-2	CADM3_HUMAN;.	Q	387;353	ENSP00000357106:H387Q;ENSP00000357107:H353Q	ENSP00000357106:H387Q	H	+	3	2	CADM3	157436271	0.964000	0.33143	0.997000	0.53966	0.172000	0.22775	0.128000	0.15810	0.583000	0.29574	-1.094000	0.02160	CAC		0.572	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		A	159169647	C	A	159169647	3	1	104	1	0	0	0	0	1	0	0	0	2568	564	20	3	1195	3	CADM3	1	159169647	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	3994985	159169647	90080974	8	5527											
KIAA1614	57710	hgsc.bcm.edu	37	1	180886093	180886093	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:180886093G>T	ENST00000367588.4	+	2	909	c.854G>T	c.(853-855)gGc>gTc	p.G285V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	285								p.G285V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GAGGCTCTGGGCGCTGGGAGC	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											76	92	87					1																	180886093		2083	4218	6301	179152716	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.854G>T	1.37:g.180886093G>T	ENSP00000356560:p.Gly285Val		179152716	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495580	0.26774	.	.	ENSG00000135835	ENST00000367588	T	0.16073	2.37	4.45	1.49	0.22878	.	0.619063	0.13498	N	0.383474	T	0.27349	0.0671	L	0.51422	1.61	0.28336	N	0.921557	D	0.61080	0.989	P	0.59487	0.858	T	0.34129	-0.9841	9	0.56958	D	0.05	-3.291	7.7644	0.28972	0.2814:0.0:0.7186:0.0	.	285	Q5VZ46	K1614_HUMAN	V	285	ENSP00000356560:G285V	ENSP00000356560:G285V	G	+	2	0	KIAA1614	179152716	0.005000	0.15991	0.326000	0.25389	0.111000	0.19643	0.690000	0.25451	0.513000	0.28278	0.467000	0.42956	GGC		0.627	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180886093	G	T	180886093	3	4	104	1	0	0	0	0	1	0	0	0	8248	1203	42	3	860	3	KIAA1614	1	180886093	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	21716446	180886093	68364528	9	5528											
HMCN1	83872	hgsc.bcm.edu	37	1	186076037	186076037	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:186076037A>T	ENST00000271588.4	+	70	11021	c.10792A>T	c.(10792-10794)Aca>Tca	p.T3598S	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3598S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3598	Ig-like C2-type 34.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T3598S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGAAGATATACATGTCTGGC	0.333																																																1	Substitution - Missense(1)	ovary(1)	1											188	188	188					1																	186076037		2203	4300	6503	184342660	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10792A>T	1.37:g.186076037A>T	ENSP00000271588:p.Thr3598Ser		184342660	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704659	0.68615	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79352	-1.26;-1.26	5.38	5.38	0.77491	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.142752	0.64402	D	0.000007	T	0.80031	0.4549	L	0.42686	1.345	0.37987	D	0.933783	D	0.54207	0.965	D	0.62955	0.909	T	0.78537	-0.2166	10	0.22706	T	0.39	.	9.8489	0.41043	0.9233:0.0:0.0767:0.0	.	3598	Q96RW7	HMCN1_HUMAN	S	3598	ENSP00000271588:T3598S;ENSP00000356462:T3598S	ENSP00000271588:T3598S	T	+	1	0	HMCN1	184342660	0.994000	0.37717	0.241000	0.24154	0.865000	0.49528	5.594000	0.67557	2.042000	0.60477	0.397000	0.26171	ACA		0.333	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186076037	A	T	186076037	3	4	104	1	0	0	0	0	1	0	0	0	7220	391	14	5	11070	5	HMCN1	1	186076037	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	5189944	186076037	63174584	10	5529											
PKP1	5317	hgsc.bcm.edu	37	1	201291239	201291239	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:201291239G>A	ENST00000352845.3	+	9	1544	c.1544G>A	c.(1543-1545)aGc>aAc	p.S515N	PKP1_ENST00000263946.3_Missense_Mutation_p.S515N|PKP1_ENST00000367324.3_Missense_Mutation_p.S494N			Q13835	PKP1_HUMAN	plakophilin 1	515					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)	p.S494N(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GGCTGCTTCAGCAACAAGAGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											84	68	73					1																	201291239		2203	4300	6503	199557862	SO:0001583	missense	5317			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1544G>A	1.37:g.201291239G>A	ENSP00000295597:p.Ser515Asn		199557862	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478873	0.44044	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.75260	-0.92;-0.92;-0.92	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.163320	0.64402	D	0.000002	T	0.59335	0.2186	N	0.21097	0.63	0.42929	D	0.994319	B;B;B	0.19445	0.036;0.021;0.034	B;B;B	0.23018	0.043;0.013;0.012	T	0.57791	-0.7750	10	0.44086	T	0.13	-21.6465	8.3521	0.32307	0.14:0.0:0.86:0.0	.	102;494;515	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	N	494;515;515	ENSP00000356293:S494N;ENSP00000263946:S515N;ENSP00000295597:S515N	ENSP00000263946:S515N	S	+	2	0	PKP1	199557862	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.452000	0.80683	2.397000	0.81536	0.655000	0.94253	AGC		0.637	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		A	201291239	G	A	201291239	3	1	104	1	0	0	0	0	1	0	0	0	11984	971	34	2	1578	2	PKP1	1	201291239	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	15215202	201291239	47959382	11	5530											
C1orf95	375057	hgsc.bcm.edu	37	1	226736749	226736749	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr1:226736749C>G	ENST00000366788.3	+	1	249	c.144C>G	c.(142-144)taC>taG	p.Y48*	C1orf95_ENST00000366789.4_Nonsense_Mutation_p.Y48*	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	48						integral component of membrane (GO:0016021)		p.Y48*(1)		large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CCATCCCCTACATGCCCTTCC	0.731																																																1	Substitution - Nonsense(1)	ovary(1)	1											28	31	30					1																	226736749		2201	4300	6501	224803372	SO:0001587	stop_gained	375057			AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.144C>G	1.37:g.226736749C>G	ENSP00000355752:p.Tyr48*		224803372	A6NGL2	Nonsense_Mutation	SNP	ENST00000366788.3	37	CCDS31044.1	.	.	.	.	.	.	.	.	.	.	C	36	5.968521	0.97156	.	.	ENSG00000203685	ENST00000366788;ENST00000366789	.	.	.	3.4	3.4	0.38934	.	0.281127	0.29093	N	0.013179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	14.3053	14.5988	0.68424	0.0:1.0:0.0:0.0	.	.	.	.	X	48	.	ENSP00000355752:Y48X	Y	+	3	2	C1orf95	224803372	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.298000	0.33412	1.717000	0.51406	0.305000	0.20034	TAC		0.731	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665		G	226736749	C	G	226736749	4	3	104	1	0	0	0	0	0	1	0	0	2072	489	17	3	146	3	C1orf95	1	226736749	Nonsense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	25445510	226736749	22513872	12	5531											
SLC8A1	6546	hgsc.bcm.edu	37	2	40656621	40656621	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr2:40656621C>A	ENST00000403092.1	-	2	833	c.800G>T	c.(799-801)cGa>cTa	p.R267L	SLC8A1_ENST00000332839.4_Missense_Mutation_p.R267L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R267L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R267L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R267L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	267	Calmodulin-binding. {ECO:0000255}.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R267L(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTTGCCAGCTCGATACCTCTT	0.433																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	2											152	151	151					2																	40656621		2203	4300	6503	40510125	SO:0001583	missense	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.800G>T	2.37:g.40656621C>A	ENSP00000384763:p.Arg267Leu		40510125	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160500	0.57368	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.34472	1.39;1.43;1.43;1.43;1.39;1.39;1.43;1.36;1.39;1.39	5.96	5.09	0.68999	.	0.178064	0.51477	D	0.000100	T	0.63307	0.2500	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.996;0.995;0.996;0.997;0.991	T	0.69221	-0.5202	10	0.66056	D	0.02	.	12.9583	0.58442	0.0:0.9223:0.0:0.0777	.	267;267;267;267;267	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	267	ENSP00000383886:R267L;ENSP00000440727:R267L;ENSP00000384763:R267L;ENSP00000385678:R267L;ENSP00000385188:R267L;ENSP00000385535:R267L;ENSP00000332931:R267L;ENSP00000384908:R267L;ENSP00000385811:R267L;ENSP00000443515:R267L	ENSP00000332931:R267L	R	-	2	0	SLC8A1	40510125	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.663000	0.83820	1.540000	0.49301	0.655000	0.94253	CGA		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		A	40656621	C	A	40656621	3	1	104	1	0	0	0	0	1	0	0	0	14709	884	31	3	2269	3	SLC8A1	2	40656621	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10		40656621	202542752	13	5532											
SPRED2	200734	hgsc.bcm.edu	37	2	65559174	65559174	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr2:65559174A>G	ENST00000356388.4	-	4	574	c.385T>C	c.(385-387)Tca>Cca	p.S129P	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.S126P	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	129					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.S129P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GTGGAAGATGACGTTGTTGAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											100	93	95					2																	65559174		2203	4300	6503	65412678	SO:0001583	missense	200734			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.385T>C	2.37:g.65559174A>G	ENSP00000348753:p.Ser129Pro		65412678	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681820	0.88542	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.78246	-1.16;-1.15;-1.15;-0.14	6.17	4.98	0.66077	.	0.168831	0.53938	D	0.000046	D	0.82683	0.5090	M	0.78801	2.425	0.80722	D	1	B;D	0.62365	0.004;0.991	B;P	0.53689	0.008;0.732	T	0.80841	-0.1202	10	0.22109	T	0.4	-8.8168	13.7691	0.63012	0.8725:0.1275:0.0:0.0	.	126;129	E9PEP0;Q7Z698	.;SPRE2_HUMAN	P	129;126;144;61	ENSP00000348753:S129P;ENSP00000393697:S126P;ENSP00000390595:S144P;ENSP00000407627:S61P	ENSP00000348753:S129P	S	-	1	0	SPRED2	65412678	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	6.555000	0.73928	2.371000	0.80710	0.533000	0.62120	TCA		0.333	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			G	65559174	A	G	65559174	3	3	104	1	0	0	0	0	1	0	0	0	15095	275	10	4	883	4	SPRED2	2	65559174	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	24902553	65559174	177640199	14	5533											
TMEM177	80775	hgsc.bcm.edu	37	2	120439259	120439259	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr2:120439259A>C	ENST00000424086.1	+	2	1303	c.830A>C	c.(829-831)aAc>aCc	p.N277T	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.N277T|TMEM177_ENST00000272521.6_Missense_Mutation_p.N277T|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	277						integral component of membrane (GO:0016021)		p.N277T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCCAGCGGGAACATCGTCCCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	2											65	62	63					2																	120439259		2203	4300	6503	120155729	SO:0001583	missense	80775			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.830A>C	2.37:g.120439259A>C	ENSP00000402661:p.Asn277Thr		120155729	Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.202204	0.58234	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521	T;T;T	0.50001	0.76;0.76;0.76	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75010	-0.3468	10	0.87932	D	0	-19.3115	12.6703	0.56864	1.0:0.0:0.0:0.0	.	277	Q53S58	TM177_HUMAN	T	277	ENSP00000385966:N277T;ENSP00000402661:N277T;ENSP00000272521:N277T	ENSP00000272521:N277T	N	+	2	0	TMEM177	120155729	1.000000	0.71417	0.876000	0.34364	0.320000	0.28249	8.556000	0.90697	1.964000	0.57103	0.448000	0.29417	AAC		0.582	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		C	120439259	A	C	120439259	3	2	104	1	0	0	0	0	1	0	0	0	16094	43	2	5	832	5	TMEM177	2	120439259	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	54880085	120439259	122760114	15	5534											
ITGA4	3676	hgsc.bcm.edu	37	2	182386920	182386920	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr2:182386920C>A	ENST00000397033.2	+	18	2355	c.1925C>A	c.(1924-1926)cCc>cAc	p.P642H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	642					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.P642H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATTTTTAGGCCCCATGAAAAT	0.308																																																1	Substitution - Missense(1)	ovary(1)	2											88	80	82					2																	182386920		1805	4073	5878	182095165	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1925C>A	2.37:g.182386920C>A	ENSP00000380227:p.Pro642His		182095165	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111593	0.77210	.	.	ENSG00000115232	ENST00000397033	T	0.45668	0.89	5.78	5.78	0.91487	Integrin alpha-2 (1);	0.112285	0.64402	D	0.000011	T	0.60983	0.2311	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.50162	-0.8860	10	0.15952	T	0.53	.	20.0011	0.97409	0.0:1.0:0.0:0.0	.	464;642	Q59H74;P13612	.;ITA4_HUMAN	H	642	ENSP00000380227:P642H	ENSP00000380227:P642H	P	+	2	0	ITGA4	182095165	0.998000	0.40836	1.000000	0.80357	0.886000	0.51366	4.085000	0.57657	2.727000	0.93392	0.585000	0.79938	CCC		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			A	182386920	C	A	182386920	3	1	104	1	0	0	0	0	1	0	0	0	7878	623	22	3	1995	3	ITGA4	2	182386920	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	61947661	182386920	60812453	16	5535											
CIDEC	63924	hgsc.bcm.edu	37	3	9911605	9911605	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr3:9911605G>C	ENST00000336832.2	-	5	654	c.515C>G	c.(514-516)tCc>tGc	p.S172C	CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.S182C|CIDEC_ENST00000423850.1_Missense_Mutation_p.S98C|CIDEC_ENST00000455015.1_Missense_Mutation_p.S98C|CIDEC_ENST00000383817.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	172					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)		p.S172F(1)|p.S172C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CAGATCATAGGAAAGGGAGTA	0.512																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	3											86	78	81					3																	9911605		2203	4300	6503	9886605	SO:0001583	missense	63924				CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.515C>G	3.37:g.9911605G>C	ENSP00000338642:p.Ser172Cys		9886605	C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657233	0.67586	.	.	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93095	0.6503	10	0.87932	D	0	-41.4572	17.7515	0.88435	0.0:0.0:1.0:0.0	.	172;182	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	C	172;98;98;182	ENSP00000338642:S172C;ENSP00000392975:S98C;ENSP00000400649:S98C;ENSP00000408631:S182C	ENSP00000338642:S172C	S	-	2	0	CIDEC	9886605	1.000000	0.71417	0.998000	0.56505	0.325000	0.28411	9.294000	0.96088	2.783000	0.95769	0.655000	0.94253	TCC		0.512	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		C	9911605	G	C	9911605	3	2	104	1	0	0	0	0	1	0	0	0	3427	1174	41	3	209	3	CIDEC	3	9911605	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10		9911605	188110825	17	5536											
HRH1	3269	hgsc.bcm.edu	37	3	11300790	11300790	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr3:11300790G>T	ENST00000397056.1	+	3	258	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	HRH1_ENST00000438284.2_Missense_Mutation_p.A23S|HRH1_ENST00000431010.2_Missense_Mutation_p.A23S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	23					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.A23S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GACCACTATGGCCAGCCCCCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	3											72	63	66					3																	11300790		2203	4300	6503	11275790	SO:0001583	missense	3269				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"GPCR / Class A : Histamine receptors"	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.67G>T	3.37:g.11300790G>T	ENSP00000380247:p.Ala23Ser		11275790	A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315697	0.23908	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.34667	1.35;1.35;1.35	5.91	4.08	0.47627	.	0.627824	0.15180	N	0.276177	T	0.20210	0.0486	L	0.32530	0.975	0.09310	N	1	B	0.26195	0.144	B	0.17979	0.02	T	0.27020	-1.0086	10	0.06494	T	0.89	-12.1901	5.4802	0.16719	0.1602:0.1742:0.6656:0.0	.	23	P35367	HRH1_HUMAN	S	23	ENSP00000406705:A23S;ENSP00000397028:A23S;ENSP00000380247:A23S	ENSP00000380247:A23S	A	+	1	0	HRH1	11275790	0.001000	0.12720	0.359000	0.25824	0.850000	0.48378	0.068000	0.14531	1.468000	0.48064	0.655000	0.94253	GCC		0.577	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			T	11300790	G	T	11300790	3	4	104	1	0	0	0	0	1	0	0	0	7355	1203	42	3	69	3	HRH1	3	11300790	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	1389185	11300790	186721640	18	5537											
MAP4	4134	hgsc.bcm.edu	37	3	48040304	48040304	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr3:48040304T>A	ENST00000360240.6	-	2	565	c.47A>T	c.(46-48)gAc>gTc	p.D16V	MAP4_ENST00000434267.1_Missense_Mutation_p.D16V|MAP4_ENST00000383737.4_Missense_Mutation_p.D16V|MAP4_ENST00000426837.2_Missense_Mutation_p.D16V|MAP4_ENST00000395734.3_Missense_Mutation_p.D16V|MAP4_ENST00000439356.1_Missense_Mutation_p.D16V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	16					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.D16V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TCCCTCAATGTCTGGAGATGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											169	151	157					3																	48040304		2203	4300	6503	48015308	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.47A>T	3.37:g.48040304T>A	ENSP00000353375:p.Asp16Val		48015308	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.52|15.52	2.859015|2.859015	0.51376|0.51376	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000434267;ENST00000439356|ENST00000423088	T;T;T;T;T;T|.	0.31510|.	1.49;1.49;1.49;1.49;1.49;1.49|.	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	.|.	.|.	.|.	.|.	T|T	0.34803|0.34803	0.0910|0.0910	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P;B;P;B|.	0.34909|.	0.475;0.018;0.467;0.242|.	B;B;B;B|.	0.35971|.	0.107;0.018;0.215;0.143|.	T|T	0.17501|0.17501	-1.0367|-1.0367	9|5	0.87932|.	D|.	0|.	-9.5307|-9.5307	10.4866|10.4866	0.44726|0.44726	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	16;16;16;16|.	C9JFC3;Q86V26;P27816-6;P27816|.	.;.;.;MAP4_HUMAN|.	V|S	16|23	ENSP00000373243:D16V;ENSP00000379083:D16V;ENSP00000407602:D16V;ENSP00000353375:D16V;ENSP00000402767:D16V;ENSP00000397414:D16V|.	ENSP00000353375:D16V|.	D|T	-|-	2|1	0|0	MAP4|MAP4	48015308|48015308	0.969000|0.969000	0.33509|0.33509	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	2.115000|2.115000	0.41921|0.41921	2.050000|2.050000	0.60909|0.60909	0.383000|0.383000	0.25322|0.25322	GAC|ACA		0.458	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		A	48040304	T	A	48040304	3	1	104	1	0	0	0	0	1	0	0	0	9258	1667	58	5	4854	5	MAP4	3	48040304	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10	36739514	48040304	149982126	19	5538											
IQCF1	132141	hgsc.bcm.edu	37	3	51929103	51929103	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr3:51929103G>A	ENST00000310914.5	-	4	483	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	141	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.							p.R141C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TAGCGTCTGCGGATGCGCCAC	0.612																																																1	Substitution - Missense(1)	ovary(1)	3											91	84	87					3																	51929103		2203	4300	6503	51904143	SO:0001583	missense	132141			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.421C>T	3.37:g.51929103G>A	ENSP00000307958:p.Arg141Cys		51904143	Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663283	0.29515	.	.	ENSG00000173389	ENST00000310914	T	0.65732	-0.17	4.75	2.95	0.34219	.	0.221444	0.32488	N	0.006039	T	0.55114	0.1900	M	0.68593	2.085	0.09310	N	0.999998	B	0.33379	0.41	B	0.30646	0.118	T	0.54132	-0.8339	10	0.72032	D	0.01	-19.5588	7.5131	0.27585	0.1963:0.0:0.8037:0.0	.	141	Q8N6M8	IQCF1_HUMAN	C	141	ENSP00000307958:R141C	ENSP00000307958:R141C	R	-	1	0	IQCF1	51904143	0.135000	0.22499	0.003000	0.11579	0.458000	0.32498	2.112000	0.41892	0.722000	0.32252	0.549000	0.68633	CGC		0.612	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		A	51929103	G	A	51929103	3	1	104	1	0	0	0	0	1	0	0	0	7807	1116	39	1	200	1	IQCF1	3	51929103	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	3888799	51929103	146093327	20	5539											
ZNF654	8545	hgsc.bcm.edu	37	3	88190160	88190160	+	De_novo_Start_OutOfFrame	SNP	A	A	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr3:88190160A>C	ENST00000462901.1	-	0	243				ZNF654_ENST00000309495.5_Missense_Mutation_p.K567T			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.K567T(1)|p.?(1)		kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GCACAAAAGAAATGTCAGACA	0.358																																																2	Substitution - Missense(1)|Unknown(1)	ovary(2)	3											64	60	61					3																	88190160		1859	4096	5955	88272850			55279			AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"p20-CGG binding protein"	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000462901.1:c.-269T>G	3.37:g.88190160A>C			88272850	D3DU38|O15183	Missense_Mutation	SNP	ENST00000462901.1	37	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	a	13.75	2.329561	0.41297	.	.	ENSG00000175105	ENST00000309495	T	0.13089	2.62	5.3	5.3	0.74995	.	.	.	.	.	T	0.17023	0.0409	N	0.20986	0.625	0.35309	D	0.783755	D	0.57257	0.979	P	0.53102	0.718	T	0.18808	-1.0325	9	0.34782	T	0.22	.	14.4396	0.67306	1.0:0.0:0.0:0.0	.	567	Q8IZM8	ZN654_HUMAN	T	567	ENSP00000312141:K567T	ENSP00000312141:K567T	K	+	2	0	ZNF654	88272850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.245000	0.58734	1.989000	0.58080	0.520000	0.50463	AAA		0.358	CGGBP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353159.1	NM_001008390		C	88190160	A	C	88190160	1	2	104	1	0	1	0	0	0	0	0	0	18067	14	1	5		5	ZNF654	3	88190160	De_novo_Start_OutOfFrame	SNP	A	TCGA-13-0900-01B-01W-0490-10	36261057	88190160	109832270	21	5540											
TNIK	23043	hgsc.bcm.edu	37	3	170946006	170946006	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr3:170946006C>G	ENST00000436636.2	-	3	472	c.128G>C	c.(127-129)cGt>cCt	p.R43P	TNIK_ENST00000341852.6_Missense_Mutation_p.R43P|TNIK_ENST00000488470.1_Missense_Mutation_p.R43P|TNIK_ENST00000369326.5_Missense_Mutation_p.R43P|TNIK_ENST00000460047.1_Missense_Mutation_p.R43P|TNIK_ENST00000475336.1_Missense_Mutation_p.R43P|TNIK_ENST00000284483.8_Missense_Mutation_p.R43P|TNIK_ENST00000538048.1_Missense_Mutation_p.R43P|TNIK_ENST00000470834.1_Missense_Mutation_p.R43P|TNIK_ENST00000357327.5_Missense_Mutation_p.R43P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R43P(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTGACATGACGACCCTGTGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	3											107	104	105					3																	170946006		1895	4105	6000	172428700	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.128G>C	3.37:g.170946006C>G	ENSP00000399511:p.Arg43Pro		172428700	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863117	0.91511	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.92	5.92	0.95590	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	0.59542	0.2201	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.79784	0.958;0.988;0.974;0.972;0.988;0.988;0.974;0.993	T	0.65348	-0.6190	10	0.87932	D	0	.	17.8186	0.88643	0.0:1.0:0.0:0.0	.	43;43;43;43;43;43;43;43	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	P	43	ENSP00000399511:R43P;ENSP00000358332:R43P;ENSP00000443278:R43P;ENSP00000345352:R43P;ENSP00000284483:R43P;ENSP00000418156:R43P;ENSP00000349880:R43P;ENSP00000418916:R43P;ENSP00000418378:R43P;ENSP00000419990:R43P	ENSP00000284483:R43P	R	-	2	0	TNIK	172428700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.610000	0.74178	2.818000	0.97014	0.655000	0.94253	CGT		0.393	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		G	170946006	C	G	170946006	3	3	104	1	0	0	0	0	1	0	0	0	16313	536	19	3	4078	3	TNIK	3	170946006	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	82755846	170946006	27076424	22	5541											
HRG	3273	hgsc.bcm.edu	37	3	186389431	186389431	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr3:186389431T>G	ENST00000232003.4	+	4	491	c.411T>G	c.(409-411)aaT>aaG	p.N137K		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	137	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.N137K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CACTGGCCAATACCAAAGATA	0.433																																																1	Substitution - Missense(1)	ovary(1)	3											94	93	93					3																	186389431		2203	4300	6503	187872125	SO:0001583	missense	3273				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.411T>G	3.37:g.186389431T>G	ENSP00000232003:p.Asn137Lys		187872125	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.428757	0.25726	.	.	ENSG00000113905	ENST00000232003	T	0.17213	2.29	5.41	-1.65	0.08291	Proteinase inhibitor I25, cystatin (1);Thioredoxin-like fold (1);	0.000000	0.52532	D	0.000065	T	0.28699	0.0711	L	0.61218	1.895	0.25151	N	0.990423	D	0.89917	1.0	D	0.69654	0.965	T	0.13255	-1.0516	10	0.27082	T	0.32	-30.1843	9.2212	0.37377	0.0:0.5312:0.0:0.4688	.	137	P04196	HRG_HUMAN	K	137	ENSP00000232003:N137K	ENSP00000232003:N137K	N	+	3	2	HRG	187872125	0.007000	0.16637	0.853000	0.33588	0.134000	0.20937	-0.466000	0.06672	-0.112000	0.11979	0.459000	0.35465	AAT		0.433	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		G	186389431	T	G	186389431	3	3	104	1	0	0	0	0	1	0	0	0	7354	1403	49	5	425	5	HRG	3	186389431	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10	15443425	186389431	11632999	23	5542											
EIF4A2	1974	hgsc.bcm.edu	37	3	186505322	186505322	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr3:186505322G>C	ENST00000323963.5	+	9	1012	c.948G>C	c.(946-948)atG>atC	p.M316I	SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.M221I|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.M317I|SNORA63_ENST00000363548.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	316	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.M316I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ATGTTATCATGAGGGAATTCC	0.373			T	BCL6	NHL																																		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	1	Substitution - Missense(1)	ovary(1)	3											154	149	150					3																	186505322		2203	4300	6503	187988016	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.948G>C	3.37:g.186505322G>C	ENSP00000326381:p.Met316Ile		187988016	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712540	0.68730	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.73363	-0.74;-0.74;-0.74	5.12	5.12	0.69794	Helicase, C-terminal (3);	0.069576	0.85682	D	0.000000	T	0.55033	0.1895	N	0.02751	-0.505	0.80722	D	1	B;B;B;B	0.29301	0.167;0.241;0.05;0.062	B;B;B;B	0.30495	0.045;0.116;0.066;0.109	T	0.61884	-0.6971	10	0.87932	D	0	-14.218	16.4407	0.83900	0.0:0.0:1.0:0.0	.	172;221;317;316	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	I	316;317;221	ENSP00000326381:M316I;ENSP00000398370:M317I;ENSP00000348925:M221I	ENSP00000326381:M316I	M	+	3	0	EIF4A2	187988016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.301000	0.78850	2.826000	0.97356	0.563000	0.77884	ATG		0.373	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		C	186505322	G	C	186505322	3	2	104	1	0	0	0	0	1	0	0	0	5025	1290	45	3	982	3	EIF4A2	3	186505322	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	115891	186505322	11517108	24	5543											
CNGA1	1259	hgsc.bcm.edu	37	4	47945300	47945300	+	Nonsense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr4:47945300G>C	ENST00000514170.1	-	8	666	c.347C>G	c.(346-348)tCa>tGa	p.S116*	CNGA1_ENST00000402813.3_Nonsense_Mutation_p.S185*|CNGA1_ENST00000358519.4_Nonsense_Mutation_p.S116*|CNGA1_ENST00000544810.1_Nonsense_Mutation_p.S116*|CNGA1_ENST00000420489.2_Nonsense_Mutation_p.S116*			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	116					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.S116*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTATCATCTGACTTGCTGAA	0.313																																																1	Substitution - Nonsense(1)	ovary(1)	4											32	29	30					4																	47945300		1750	3946	5696	47640057	SO:0001587	stop_gained	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.347C>G	4.37:g.47945300G>C	ENSP00000426862:p.Ser116*		47640057	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Nonsense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137172	0.56936	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489;ENST00000504722	.	.	.	4.82	3.98	0.46160	.	1.293600	0.05088	N	0.484795	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	7.8756	0.29592	0.1912:0.0:0.8088:0.0	.	.	.	.	X	185;116;116;116;116;116	.	ENSP00000351320:S116X	S	-	2	0	CNGA1	47640057	0.010000	0.17322	0.996000	0.52242	0.584000	0.36387	1.631000	0.37092	1.175000	0.42826	0.655000	0.94253	TCA		0.313	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		C	47945300	G	C	47945300	4	2	104	1	0	0	0	0	0	1	0	0	3596	1294	45	3	1741	3	CNGA1	4	47945300	Nonsense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10		47945300	143208976	25	5544											
ANKRD17	26057	hgsc.bcm.edu	37	4	73956580	73956580	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr4:73956580G>C	ENST00000358602.4	-	29	6881	c.6765C>G	c.(6763-6765)agC>agG	p.S2255R	ANKRD17_ENST00000330838.6_Missense_Mutation_p.S2004R|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S2142R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2255					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S2255R(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAAACAATGTGCTAAAGGGCC	0.443																																																1	Substitution - Missense(1)	ovary(1)	4											217	223	221					4																	73956580		2203	4300	6503	74175444	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6765C>G	4.37:g.73956580G>C	ENSP00000351416:p.Ser2255Arg		74175444	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842032	0.32513	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.80994	-1.44;-1.44;-0.75	5.65	5.65	0.86999	.	0.150425	0.45361	D	0.000374	T	0.79293	0.4421	L	0.57536	1.79	0.36775	D	0.884028	P;P;P;P	0.40476	0.718;0.718;0.596;0.596	B;B;B;B	0.41036	0.277;0.346;0.143;0.1	D	0.84862	0.0820	10	0.87932	D	0	.	13.4114	0.60944	0.0811:0.0:0.9189:0.0	.	2254;2004;2255;2142	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	R	2255;1662;2004;2142;639	ENSP00000351416:S2255R;ENSP00000332265:S2004R;ENSP00000427151:S2142R	ENSP00000332265:S2004R	S	-	3	2	ANKRD17	74175444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.375000	0.59549	2.668000	0.90789	0.655000	0.94253	AGC		0.443	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		C	73956580	G	C	73956580	3	2	104	1	0	0	0	0	1	0	0	0	646	1310	46	3	1070	3	ANKRD17	4	73956580	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	26011280	73956580	117197696	26	5545											
TMEM150C	441027	hgsc.bcm.edu	37	4	83423918	83423918	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr4:83423918C>T	ENST00000515780.2	-	5	401	c.197G>A	c.(196-198)tGt>tAt	p.C66Y	TMEM150C_ENST00000449862.2_Missense_Mutation_p.C66Y|TMEM150C_ENST00000508701.1_Missense_Mutation_p.C66Y			B9EJG8	T150C_HUMAN	transmembrane protein 150C	66						integral component of membrane (GO:0016021)		p.C66Y(1)		ovary(1)	1						ACTAAACACACAGCTTGCAGG	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											66	62	63					4																	83423918		1879	4099	5978	83642942	SO:0001583	missense	441027			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.197G>A	4.37:g.83423918C>T	ENSP00000420919:p.Cys66Tyr		83642942	B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195175	0.58017	.	.	ENSG00000249242	ENST00000449862;ENST00000515780;ENST00000508701;ENST00000454948	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.77	5.77	0.91146	.	.	.	.	.	T	0.72382	0.3453	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.995	T	0.72228	-0.4354	9	0.48119	T	0.1	-6.0583	19.9915	0.97366	0.0:1.0:0.0:0.0	.	66;66	B9EJG8-2;B9EJG8	.;T150C_HUMAN	Y	66	ENSP00000403438:C66Y;ENSP00000420919:C66Y;ENSP00000421812:C66Y;ENSP00000414988:C66Y	ENSP00000403438:C66Y	C	-	2	0	TMEM150C	83642942	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.536000	0.73842	2.723000	0.93209	0.655000	0.94253	TGT		0.358	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		T	83423918	C	T	83423918	3	4	104	1	0	0	0	0	1	0	0	0	16069	478	17	2	568	2	TMEM150C	4	83423918	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	9467338	83423918	107730358	27	5546											
ADAMTS16	170690	hgsc.bcm.edu	37	5	5318277	5318277	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:5318277A>G	ENST00000274181.7	+	22	3580	c.3442A>G	c.(3442-3444)Acg>Gcg	p.T1148A		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1148	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T1148A(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGGCGTTCAGACGAGGTCCGT	0.667																																																1	Substitution - Missense(1)	ovary(1)	5											38	46	43					5																	5318277		2096	4198	6294	5371277	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3442A>G	5.37:g.5318277A>G	ENSP00000274181:p.Thr1148Ala		5371277	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	8.731	0.916653	0.17907	.	.	ENSG00000145536	ENST00000274181	T	0.54675	0.56	4.83	3.66	0.41972	.	0.718574	0.13238	N	0.403062	T	0.44644	0.1303	M	0.66939	2.045	0.22552	N	0.998995	B	0.12013	0.005	B	0.06405	0.002	T	0.29274	-1.0017	10	0.15952	T	0.53	.	5.638	0.17548	0.8037:0.0:0.1963:0.0	.	1148	Q8TE57	ATS16_HUMAN	A	1148	ENSP00000274181:T1148A	ENSP00000274181:T1148A	T	+	1	0	ADAMTS16	5371277	0.054000	0.20591	0.954000	0.39281	0.206000	0.24218	0.596000	0.24044	1.941000	0.56285	0.460000	0.39030	ACG		0.667	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		G	5318277	A	G	5318277	3	3	104	1	0	0	0	0	1	0	0	0	261	275	10	4	3528	4	ADAMTS16	5	5318277	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10		5318277	175596983	28	5547											
SEMA5A	9037	hgsc.bcm.edu	37	5	9066612	9066612	+	Silent	SNP	C	C	T	rs200621236		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:9066612C>T	ENST00000382496.5	-	17	2885	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	740	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.P740P(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAGCAAATTCGGATCAGCCA	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		17878	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	5											162	155	157					5																	9066612		2203	4300	6503	9119612	SO:0001819	synonymous_variant	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2220G>A	5.37:g.9066612C>T			9119612	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																				0.562	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9066612	C	T	9066612	2	4	104	1	0	0	0	0	0	0	0	1	14040	871	31	1		1	SEMA5A	5	9066612	Silent	SNP	C	TCGA-13-0900-01B-01W-0490-10	3748335	9066612	171848648	29	5548											
NPR3	4883	hgsc.bcm.edu	37	5	32784951	32784951	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:32784951A>T	ENST00000265074.8	+	7	1819	c.1476A>T	c.(1474-1476)ttA>ttT	p.L492F	NPR3_ENST00000434067.2_Missense_Mutation_p.L276F|NPR3_ENST00000415167.2_Missense_Mutation_p.L491F|NPR3_ENST00000415685.2_Missense_Mutation_p.L275F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	492					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.L492F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGGGGGCTTTACTAGGAGCTG	0.433																																																1	Substitution - Missense(1)	ovary(1)	5											150	157	155					5																	32784951		1889	4116	6005	32820708	SO:0001583	missense	4883				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1476A>T	5.37:g.32784951A>T	ENSP00000265074:p.Leu492Phe		32820708	A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146398	0.37923	.	.	ENSG00000113389	ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.23	1.5	0.22942	.	0.213009	0.39759	N	0.001279	T	0.23572	0.0570	N	0.12182	0.205	0.40070	D	0.976	B;B;B	0.15473	0.006;0.013;0.013	B;B;B	0.13407	0.004;0.009;0.009	T	0.04005	-1.0985	10	0.29301	T	0.29	-5.8567	4.9225	0.13876	0.5815:0.0:0.2913:0.1272	.	275;492;491	E7EPG9;P17342;Q60I31	.;ANPRC_HUMAN;.	F	276;275;492;491	ENSP00000388408:L276F;ENSP00000402490:L275F;ENSP00000265074:L492F;ENSP00000398028:L491F	ENSP00000265074:L492F	L	+	3	2	NPR3	32820708	1.000000	0.71417	0.993000	0.49108	0.730000	0.41778	0.769000	0.26604	0.033000	0.15463	0.254000	0.18369	TTA		0.433	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		T	32784951	A	T	32784951	3	4	104	1	0	0	0	0	1	0	0	0	10596	388	14	5	1499	5	NPR3	5	32784951	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	23718339	32784951	148130309	30	5549											
C6	729	hgsc.bcm.edu	37	5	41154096	41154096	+	Silent	SNP	C	C	T	rs367874720		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:41154096C>T	ENST00000263413.3	-	15	2370	c.2106G>A	c.(2104-2106)acG>acA	p.T702T	C6_ENST00000337836.5_Silent_p.T702T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	702	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T702T(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGATGCACTCCGTCCCTGCAA	0.403																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	5						C	,	1,4405	2.1+/-5.4	0,1,2202	94	85	88		2106,2106	-4.7	0	5		88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C6	NM_000065.2,NM_001115131.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	702/935,702/935	41154096	1,13005	2203	4300	6503	41189853	SO:0001819	synonymous_variant	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2106G>A	5.37:g.41154096C>T			41189853		Silent	SNP	ENST00000263413.3	37	CCDS3936.1																																																																																				0.403	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			T	41154096	C	T	41154096	2	4	104	1	0	0	0	0	0	0	0	1	2315	639	23	1		1	C6	5	41154096	Silent	SNP	C	TCGA-13-0900-01B-01W-0490-10	8369145	41154096	139761164	31	5550											
DHX29	54505	hgsc.bcm.edu	37	5	54592136	54592141	+	In_Frame_Del	DEL	CTTTGT	CTTTGT	-			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	CTTTGT	CTTTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:54592136_54592141delCTTTGT	ENST00000251636.5	-	4	560_565	c.412_417delACAAAG	c.(412-417)acaaagdel	p.TK138del	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	138						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.T138_K139delTK(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTTCAATGTCCTTTGTCTTAAATGAA	0.345																																																1	Deletion - In frame(1)	ovary(1)	5																																								54627898	SO:0001651	inframe_deletion	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.412_417delACAAAG	5.37:g.54592136_54592141delCTTTGT	ENSP00000251636:p.Thr138_Lys139del		54627893	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	In_Frame_Del	DEL	ENST00000251636.5	37	CCDS34158.1																																																																																				0.345	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		-	54592141	CTTTGT	-	54592136	7	5	104	1	0	1	0	1	0	0	0	0	4503	680	24	0	3788	0	DHX29	5	54592136	In_Frame_Del	DEL	CTTTGT	TCGA-13-0900-01B-01W-0490-10	13438040	54592136	126323124	32	5551											
JAKMIP2	9832	hgsc.bcm.edu	37	5	146997488	146997488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:146997488G>A	ENST00000265272.5	-	19	2799	c.2332C>T	c.(2332-2334)Cag>Tag	p.Q778*	JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.Q736*|JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.Q757*	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	778						Golgi apparatus (GO:0005794)		p.Q778*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCTTGCTGTAAGAGCTCC	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	5											123	101	108					5																	146997488		2203	4300	6503	146977681	SO:0001587	stop_gained	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2332C>T	5.37:g.146997488G>A	ENSP00000265272:p.Gln778*		146977681	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Nonsense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	44	11.059922	0.99510	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	.	.	.	5.72	5.72	0.89469	.	0.057447	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.2626	0.98452	0.0:0.0:1.0:0.0	.	.	.	.	X	757;778;736;757	.	ENSP00000265272:Q778X	Q	-	1	0	JAKMIP2	146977681	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	CAG		0.493	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		A	146997488	G	A	146997488	4	1	104	1	0	0	0	0	0	1	0	0	7941	1386	48	2	112	2	JAKMIP2	5	146997488	Nonsense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	92405352	146997488	33917772	33	5552											
JAKMIP2	9832	hgsc.bcm.edu	37	5	147040528	147040528	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:147040528G>A	ENST00000265272.5	-	3	1077	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R162W|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R204W	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	204						Golgi apparatus (GO:0005794)		p.R204W(2)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAATATCCCGCTCCGACTCC	0.507																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	5											135	127	130					5																	147040528		2203	4300	6503	147020721	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.610C>T	5.37:g.147040528G>A	ENSP00000265272:p.Arg204Trp		147020721	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404067	0.62288	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.38240	1.15;1.15;1.15	5.13	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	M	0.73962	2.25	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.988;0.988;0.988	T	0.62863	-0.6764	10	0.87932	D	0	.	11.8289	0.52283	0.0:0.0:0.4596:0.5404	.	162;204;204;204	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	W	204;204;162;204	ENSP00000421398:R204W;ENSP00000265272:R204W;ENSP00000328989:R162W	ENSP00000265272:R204W	R	-	1	2	JAKMIP2	147020721	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.454000	0.44979	1.465000	0.48006	0.655000	0.94253	CGG		0.507	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		A	147040528	G	A	147040528	3	1	104	1	0	0	0	0	1	0	0	0	7941	1086	38	1	1898	1	JAKMIP2	5	147040528	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	43040	147040528	33874732	34	5553											
TIMD4	91937	hgsc.bcm.edu	37	5	156381495	156381495	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:156381495A>T	ENST00000274532.2	-	2	387	c.331T>A	c.(331-333)Tgc>Agc	p.C111S	TIMD4_ENST00000407087.3_Missense_Mutation_p.C111S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	111	Ig-like V-type.					integral component of membrane (GO:0016021)		p.C111S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGCGGCAGCAGTACACACCG	0.502																																																1	Substitution - Missense(1)	ovary(1)	5											91	83	86					5																	156381495		2203	4300	6503	156314073	SO:0001583	missense	91937			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.331T>A	5.37:g.156381495A>T	ENSP00000274532:p.Cys111Ser		156314073	B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	a	22.4	4.279510	0.80692	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.63255	-0.03;-0.03	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	D	0.83202	0.5203	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87125	0.2193	10	0.72032	D	0.01	-17.6249	15.3381	0.74273	1.0:0.0:0.0:0.0	.	111;111	B5MCL9;Q96H15	.;TIMD4_HUMAN	S	111	ENSP00000274532:C111S;ENSP00000385973:C111S	ENSP00000274532:C111S	C	-	1	0	TIMD4	156314073	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.056000	0.64287	2.111000	0.64477	0.533000	0.62120	TGC		0.502	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		T	156381495	A	T	156381495	3	4	104	1	0	0	0	0	1	0	0	0	15903	188	7	5	837	5	TIMD4	5	156381495	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	9340967	156381495	24533765	35	5554											
SOX30	11063	hgsc.bcm.edu	37	5	157053432	157053432	+	Silent	SNP	C	C	T	rs537052698		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:157053432C>T	ENST00000265007.6	-	5	2519	c.2178G>A	c.(2176-2178)ccG>ccA	p.P726P	SOX30_ENST00000519442.1_Silent_p.P421P|SOX30_ENST00000311371.5_3'UTR	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	726					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P726P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTTGATGTCGGGGCTGTGA	0.428													C|||	1	0.000199681	0	0	5008	,	,		16983	0.001		0	False		,,,				2504	0				Esophageal Squamous(31;525 799 19355 21125 41744)											1	Substitution - coding silent(1)	ovary(1)	5											97	92	94					5																	157053432		2203	4300	6503	156986010	SO:0001819	synonymous_variant	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.2178G>A	5.37:g.157053432C>T			156986010	O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	CCDS4339.1																																																																																				0.428	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		T	157053432	C	T	157053432	2	4	104	1	0	0	0	0	0	0	0	1	14955	871	31	1		1	SOX30	5	157053432	Silent	SNP	C	TCGA-13-0900-01B-01W-0490-10	671937	157053432	23861828	36	5555											
UBLCP1	134510	hgsc.bcm.edu	37	5	158705261	158705261	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr5:158705261G>A	ENST00000296786.6	+	9	1026	c.700G>A	c.(700-702)Gtt>Att	p.V234I		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	234	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.V234I(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTCTTGGTGTTATATGGGG	0.338																																																1	Substitution - Missense(1)	ovary(1)	5											85	87	86					5																	158705261		2203	4300	6503	158637839	SO:0001583	missense	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.700G>A	5.37:g.158705261G>A	ENSP00000296786:p.Val234Ile		158637839	D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607428	0.66558	.	.	ENSG00000164332	ENST00000296786	T	0.16196	2.36	5.44	5.44	0.79542	HAD-superfamily hydrolase, subfamily IIID (1);NLI interacting factor (3);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	L	0.43923	1.385	0.80722	D	1	P	0.38250	0.624	B	0.35859	0.212	T	0.02574	-1.1139	10	0.26408	T	0.33	-2.71	17.8054	0.88600	0.0:0.0:1.0:0.0	.	234	Q8WVY7	UBCP1_HUMAN	I	234	ENSP00000296786:V234I	ENSP00000296786:V234I	V	+	1	0	UBLCP1	158637839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.697000	0.92050	0.655000	0.94253	GTT		0.338	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		A	158705261	G	A	158705261	3	1	104	1	0	0	0	0	1	0	0	0	16891	1377	48	2	730	2	UBLCP1	5	158705261	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	1651829	158705261	22209999	37	5556											
NEU1	4758	hgsc.bcm.edu	37	6	31827960	31827960	+	Missense_Mutation	SNP	G	G	A	rs190549838		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr6:31827960G>A	ENST00000375631.4	-	5	1009	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	294			R -> S (in SIALIDOSIS; type 1; mild mutation as residual activity is still measurable). {ECO:0000269|PubMed:11063730}.		glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.R294C(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	TCATAGCTGCGGAGGACAATT	0.572																																																1	Substitution - Missense(1)	ovary(1)	6	GRCh37	CM004863	NEU1	M	rs190549838						100	86	91					6																	31827960		1510	2709	4219	31935939	SO:0001583	missense	4758			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.880C>T	6.37:g.31827960G>A	ENSP00000364782:p.Arg294Cys		31935939		Missense_Mutation	SNP	ENST00000375631.4	37	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747690	0.49257	.	.	ENSG00000204386	ENST00000375631	D	0.84589	-1.87	5.1	5.1	0.69264	Neuraminidase (2);	0.220094	0.48767	D	0.000166	D	0.89856	0.6836	M	0.88775	2.98	0.58432	D	0.999993	D	0.76494	0.999	D	0.63192	0.912	D	0.88849	0.3318	10	0.38643	T	0.18	-16.2273	9.7176	0.40284	0.0922:0.0:0.9078:0.0	.	294	Q99519	NEUR1_HUMAN	C	294	ENSP00000364782:R294C	ENSP00000364782:R294C	R	-	1	0	NEU1	31935939	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.867000	0.69597	2.814000	0.96858	0.563000	0.77884	CGC		0.572	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			A	31827960	G	A	31827960	3	1	104	1	0	0	0	0	1	0	0	0	10341	1116	39	1	375	1	NEU1	6	31827960	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10		31827960	139287107	38	5557											
CNPY3	10695	hgsc.bcm.edu	37	6	42905541	42905541	+	Silent	SNP	C	C	T	rs373936858		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr6:42905541C>T	ENST00000372836.4	+	4	830	c.459C>T	c.(457-459)aaC>aaT	p.N153N	CNPY3_ENST00000394142.3_3'UTR|RP3-475N16.1_ENST00000450671.1_RNA	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	153	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.N153N(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AGCTGTGGAACGAGACTTCTG	0.562													C|||	1	0.000199681	0	0.0014	5008	,	,		20197	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	6						C		2,4404	4.2+/-10.8	0,2,2201	208	180	189		459	-2.4	1	6		189	0,8600		0,0,4300	no	coding-synonymous	CNPY3	NM_006586.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		153/279	42905541	2,13004	2203	4300	6503	43013519	SO:0001819	synonymous_variant	10695			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"Trinucleotide (CAG) repeat containing"	11968	protein-coding gene	gene with protein product		610774	"trinucleotide repeat containing 5", "canopy 3 homolog (zebrafish)"	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.459C>T	6.37:g.42905541C>T			43013519	O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Silent	SNP	ENST00000372836.4	37	CCDS4875.1																																																																																				0.562	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		T	42905541	C	T	42905541	2	4	104	1	0	0	0	0	0	0	0	1	3629	535	19	1		1	CNPY3	6	42905541	Silent	SNP	C	TCGA-13-0900-01B-01W-0490-10	11077581	42905541	128209526	39	5558											
LAMA2	3908	hgsc.bcm.edu	37	6	129475728	129475728	+	Missense_Mutation	SNP	G	G	T	rs367649718		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr6:129475728G>T	ENST00000421865.2	+	8	1155	c.1106G>T	c.(1105-1107)cGt>cTt	p.R369L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	369	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R369L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAATATACGTGGAAAGTAC	0.388																																																1	Substitution - Missense(1)	ovary(1)	6											92	92	92					6																	129475728		2203	4300	6503	129517421	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1106G>T	6.37:g.129475728G>T	ENSP00000400365:p.Arg369Leu		129517421	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	g	6.804	0.517363	0.13005	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34072	1.38	6.06	2.37	0.29283	EGF-like, laminin (3);	0.479957	0.22257	N	0.062465	T	0.04907	0.0132	N	0.15975	0.35	0.25098	N	0.99081	B;B	0.13145	0.007;0.0	B;B	0.16289	0.015;0.001	T	0.42396	-0.9454	10	0.10636	T	0.68	.	4.3752	0.11267	0.5978:0.0:0.1975:0.2046	.	369;369	A6NF00;P24043	.;LAMA2_HUMAN	L	369	ENSP00000400365:R369L	ENSP00000346769:R369L	R	+	2	0	LAMA2	129517421	0.951000	0.32395	0.994000	0.49952	0.934000	0.57294	1.741000	0.38238	0.166000	0.19597	-0.285000	0.09966	CGT		0.388	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129475728	G	T	129475728	3	4	104	1	0	0	0	0	1	0	0	0	8606	1145	40	3	1136	3	LAMA2	6	129475728	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	86570187	129475728	41639339	40	5559											
TAGAP	117289	hgsc.bcm.edu	37	6	159460322	159460322	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr6:159460322G>C	ENST00000367066.3	-	8	938	c.607C>G	c.(607-609)Cgg>Ggg	p.R203G	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R25G|TAGAP_ENST00000338313.5_Missense_Mutation_p.R203G|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	203	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R203G(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGGTTGGGCCGGGGGAGCTTA	0.498																																																1	Substitution - Missense(1)	ovary(1)	6											67	67	67					6																	159460322		2203	4300	6503	159380310	SO:0001583	missense	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.607C>G	6.37:g.159460322G>C	ENSP00000356033:p.Arg203Gly		159380310	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	6.453	0.451663	0.12223	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000338313	T;T;T	0.19938	2.11;2.11;2.11	5.87	0.31	0.15825	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.556823	0.17586	N	0.168933	T	0.08358	0.0208	M	0.71871	2.18	0.20703	N	0.999868	B;B	0.25743	0.006;0.133	B;B	0.25140	0.013;0.058	T	0.24261	-1.0165	10	0.56958	D	0.05	-2.5662	5.0628	0.14566	0.0786:0.0976:0.2336:0.5903	.	203;203	Q8N103-4;Q8N103	.;TAGAP_HUMAN	G	203;25;203	ENSP00000356033:R203G;ENSP00000322650:R25G;ENSP00000340217:R203G	ENSP00000322650:R25G	R	-	1	2	TAGAP	159380310	0.008000	0.16893	0.004000	0.12327	0.018000	0.09664	1.150000	0.31639	0.088000	0.17205	-0.152000	0.13540	CGG		0.498	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		C	159460322	G	C	159460322	3	2	104	1	0	0	0	0	1	0	0	0	15537	1115	39	3	1618	3	TAGAP	6	159460322	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	29984594	159460322	11654745	41	5560											
HUS1	3364	hgsc.bcm.edu	37	7	48018046	48018046	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr7:48018046G>T	ENST00000258774.5	-	3	348	c.325C>A	c.(325-327)Cac>Aac	p.H109N	HUS1_ENST00000432325.1_Missense_Mutation_p.H88N	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	109					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.H109N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				CAGGGAAAGTGTTTATTAGTC	0.443								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)											1	Substitution - Missense(1)	ovary(1)	7											88	80	83					7																	48018046		2203	4300	6503	47984571	SO:0001583	missense	3364			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.325C>A	7.37:g.48018046G>T	ENSP00000258774:p.His109Asn		47984571	B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757028	0.49468	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.31	4.43	0.53597	.	0.098576	0.64402	D	0.000001	T	0.11024	0.0269	L	0.49126	1.545	0.54753	D	0.999983	B	0.09022	0.002	B	0.18561	0.022	T	0.09100	-1.0690	10	0.17832	T	0.49	-13.9888	11.6024	0.51010	0.0866:0.0:0.9134:0.0	.	109	O60921	HUS1_HUMAN	N	109;88;88;88	ENSP00000258774:H109N;ENSP00000416588:H88N;ENSP00000404855:H88N;ENSP00000398806:H88N	ENSP00000258774:H109N	H	-	1	0	HUS1	47984571	1.000000	0.71417	0.722000	0.30670	0.995000	0.86356	5.224000	0.65288	1.247000	0.43917	0.655000	0.94253	CAC		0.443	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		T	48018046	G	T	48018046	3	4	104	1	0	0	0	0	1	0	0	0	7459	1377	48	3	541	3	HUS1	7	48018046	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10		48018046	111120617	42	5561											
EGFR	1956	hgsc.bcm.edu	37	7	55241677	55241677	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr7:55241677G>C	ENST00000275493.2	+	18	2302	c.2125G>C	c.(2125-2127)Gaa>Caa	p.E709Q	EGFR_ENST00000454757.2_Missense_Mutation_p.E656Q|EGFR_ENST00000455089.1_Missense_Mutation_p.E664Q|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|E -> G (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15623594}.|E -> K (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	20	Substitution - Missense(19)|Deletion - Frameshift(1)	lung(15)|upper_aerodigestive_tract(2)|prostate(2)|ovary(1)	7											88	91	90					7																	55241677		2203	4300	6503	55209171	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2125G>C	7.37:g.55241677G>C	ENSP00000275493:p.Glu709Gln		55209171	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924598	0.92319	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62232	0.04;0.04;0.04	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.71581	2.175	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.66084	0.86;0.941	T	0.79761	-0.1667	10	0.87932	D	0	.	18.672	0.91514	0.0:0.0:1.0:0.0	.	664;709	Q504U8;P00533	.;EGFR_HUMAN	Q	664;579;709;656	ENSP00000415559:E664Q;ENSP00000275493:E709Q;ENSP00000395243:E656Q	ENSP00000275493:E709Q	E	+	1	0	EGFR	55209171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.833000	0.99426	2.745000	0.94114	0.563000	0.77884	GAA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55241677	G	C	55241677	3	2	104	1	0	0	0	0	1	0	0	0	4967	1175	41	3	2459	3	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	7223631	55241677	103896986	43	5562											
ABCB4	5244	hgsc.bcm.edu	37	7	87056076	87056076	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr7:87056076G>C	ENST00000265723.4	-	16	2165	c.2054C>G	c.(2053-2055)aCc>aGc	p.T685S	ABCB4_ENST00000453593.1_Missense_Mutation_p.T685S|ABCB4_ENST00000359206.3_Missense_Mutation_p.T685S|ABCB4_ENST00000545634.1_Missense_Mutation_p.T685S|ABCB4_ENST00000358400.3_Missense_Mutation_p.T685S	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	685					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.T685S(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AAGTCCATCGGTTTCCACATC	0.348																																																1	Substitution - Missense(1)	ovary(1)	7											97	95	96					7																	87056076		2203	4300	6503	86894012	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2054C>G	7.37:g.87056076G>C	ENSP00000265723:p.Thr685Ser		86894012	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.935575	0.00484	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.86627	-2.08;-2.15;-2.12;-2.15;-2.08	4.92	-0.202	0.13208	.	3.446160	0.01562	N	0.020174	T	0.75627	0.3875	N	0.16903	0.455	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.61043	-0.7142	10	0.12430	T	0.62	-1.1634	5.5971	0.17333	0.0685:0.2249:0.4926:0.214	.	685;685;685	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	S	685	ENSP00000352135:T685S;ENSP00000351172:T685S;ENSP00000265723:T685S;ENSP00000392983:T685S;ENSP00000437465:T685S	ENSP00000265723:T685S	T	-	2	0	ABCB4	86894012	0.000000	0.05858	0.008000	0.14137	0.000000	0.00434	-0.637000	0.05459	-0.241000	0.09681	-0.940000	0.02684	ACC		0.348	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		C	87056076	G	C	87056076	3	2	104	1	0	0	0	0	1	0	0	0	43	1261	44	3	1858	3	ABCB4	7	87056076	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	31814399	87056076	72082587	44	5563											
LRRN3	54674	hgsc.bcm.edu	37	7	110763276	110763276	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr7:110763276A>C	ENST00000422987.3	+	2	1279	c.448A>C	c.(448-450)Aac>Cac	p.N150H	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.N150H|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N150H|IMMP2L_ENST00000452895.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	150					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N150H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TATTAATCACAACTTGCTTTC	0.378																																																1	Substitution - Missense(1)	ovary(1)	7											83	88	87					7																	110763276		2203	4300	6503	110550512	SO:0001583	missense	54674			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.448A>C	7.37:g.110763276A>C	ENSP00000412417:p.Asn150His		110550512	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.544092	0.65198	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.67345	-0.26;-0.26;-0.26;3.46	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000004	D	0.90003	0.6879	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94044	0.7312	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	150	Q9H3W5	LRRN3_HUMAN	H	150	ENSP00000312001:N150H;ENSP00000397312:N150H;ENSP00000412417:N150H;ENSP00000407927:N150H	ENSP00000312001:N150H	N	+	1	0	LRRN3	110550512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	AAC		0.378	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		C	110763276	A	C	110763276	3	2	104	1	0	0	0	0	1	0	0	0	9036	130	5	5	450	5	LRRN3	7	110763276	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	23707200	110763276	48375387	45	5564											
KEL	3792	hgsc.bcm.edu	37	7	142651611	142651611	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr7:142651611C>T	ENST00000355265.2	-	7	1150	c.676G>A	c.(676-678)Gac>Aac	p.D226N	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	226					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.D226N(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTGGCTGGTCTATCTGGGCA	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											173	157	163					7																	142651611		2203	4300	6503	142361733	SO:0001583	missense	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.676G>A	7.37:g.142651611C>T	ENSP00000347409:p.Asp226Asn		142361733	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414857	0.62511	.	.	ENSG00000197993	ENST00000355265	T	0.75821	-0.97	5.77	4.88	0.63580	Peptidase M13 (1);	0.323755	0.26311	N	0.025114	D	0.85274	0.5659	M	0.79926	2.475	0.48288	D	0.999626	D	0.69078	0.997	D	0.70016	0.967	D	0.86811	0.1998	10	0.72032	D	0.01	-8.3737	12.2075	0.54361	0.1706:0.8294:0.0:0.0	.	226	P23276	KELL_HUMAN	N	226	ENSP00000347409:D226N	ENSP00000347409:D226N	D	-	1	0	KEL	142361733	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.167000	0.31847	1.442000	0.47568	0.585000	0.79938	GAC		0.557	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		T	142651611	C	T	142651611	3	4	104	1	0	0	0	0	1	0	0	0	8142	913	32	2	1574	2	KEL	7	142651611	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	31888335	142651611	16487052	46	5565											
ATG9B	285973	hgsc.bcm.edu	37	7	150720191	150720191	+	Silent	SNP	C	C	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr7:150720191C>A	ENST00000377974.2	-	4	837	c.762G>T	c.(760-762)ccG>ccT	p.P254P	ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Silent_p.P254P|ATG9B_ENST00000605952.1_Silent_p.P254P			Q674R7	ATG9B_HUMAN	autophagy related 9B	254					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.P254P(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGTGGAACGGCCCAGGTC	0.517																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	7											237	241	240					7																	150720191		2008	4185	6193	150351124	SO:0001819	synonymous_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.762G>T	7.37:g.150720191C>A			150351124	A1A5D3|Q6JRW5|Q8N8I8	Silent	SNP	ENST00000377974.2	37																																																																																					0.517	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		A	150720191	C	A	150720191	2	1	104	1	0	0	0	0	0	0	0	1	1103	523	19	3		3	ATG9B	7	150720191	Silent	SNP	C	TCGA-13-0900-01B-01W-0490-10	8068580	150720191	8418472	47	5566											
RBM12B	389677	hgsc.bcm.edu	37	8	94746145	94746145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr8:94746145delC	ENST00000399300.2	-	3	2707	c.2494delG	c.(2494-2496)gagfs	p.E833fs	RBM12B_ENST00000517700.1_Frame_Shift_Del_p.E713fs|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	833							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E832fs*55(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAATCTTCCTCCTGGGGGCTC	0.542																																																1	Deletion - Frameshift(1)	ovary(1)	8											50	51	50					8																	94746145		1831	4081	5912	94815321	SO:0001589	frameshift_variant	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2494delG	8.37:g.94746145delC	ENSP00000382239:p.Glu833fs		94815321	A8MYB5	Frame_Shift_Del	DEL	ENST00000399300.2	37	CCDS43755.1																																																																																				0.542	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		-	94746145	C	-	94746145	7	5	104	1	0	1	0	1	0	0	0	0	13117	864	30	0	515	0	RBM12B	8	94746145	Frame_Shift_Del	DEL	C	TCGA-13-0900-01B-01W-0490-10		94746145	51617877	48	5567											
CSMD3	114788	hgsc.bcm.edu	37	8	113702186	113702186	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr8:113702186T>A	ENST00000297405.5	-	14	2310	c.2066A>T	c.(2065-2067)gAa>gTa	p.E689V	CSMD3_ENST00000352409.3_Missense_Mutation_p.E689V|CSMD3_ENST00000343508.3_Missense_Mutation_p.E649V|CSMD3_ENST00000455883.2_Missense_Mutation_p.E585V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	689	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E689V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACTGGCATTCAAACCTTAA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											169	173	172					8																	113702186		2203	4300	6503	113771362	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2066A>T	8.37:g.113702186T>A	ENSP00000297405:p.Glu689Val		113771362	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082856	0.76642	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	4.96	4.96	0.65561	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.78991	0.4371	M	0.61703	1.905	0.44402	D	0.997317	D;D;D	0.89917	0.995;1.0;0.983	D;D;D	0.91635	0.98;0.999;0.915	T	0.79230	-0.1889	10	0.44086	T	0.13	.	14.9156	0.70795	0.0:0.0:0.0:1.0	.	585;689;649	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	649;689;29;585;689	ENSP00000345799:E649V;ENSP00000297405:E689V;ENSP00000341558:E29V;ENSP00000412263:E585V;ENSP00000343124:E689V	ENSP00000297405:E689V	E	-	2	0	CSMD3	113771362	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	1.987000	0.57996	0.397000	0.26171	GAA		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113702186	T	A	113702186	3	1	104	1	0	0	0	0	1	0	0	0	3946	1783	62	5	9289	5	CSMD3	8	113702186	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10	18956041	113702186	32661836	49	5568											
TG	7038	hgsc.bcm.edu	37	8	133894179	133894179	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr8:133894179G>A	ENST00000220616.4	+	6	750	c.710G>A	c.(709-711)tGt>tAt	p.C237Y	TG_ENST00000377869.1_Missense_Mutation_p.C237Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	237	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.C237Y(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TATTGCCACTGTGCTGACAGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	8											109	94	99					8																	133894179		2203	4300	6503	133963361	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.710G>A	8.37:g.133894179G>A	ENSP00000220616:p.Cys237Tyr		133963361	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636274	0.87760	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.99470	-5.96;-5.96	5.58	5.58	0.84498	Thyroglobulin type-1 (3);	0.000000	0.64402	D	0.000001	D	0.99542	0.9836	M	0.82716	2.605	0.53688	D	0.999971	D	0.89917	1.0	D	0.87578	0.998	D	0.98572	1.0646	10	0.87932	D	0	.	18.5709	0.91135	0.0:0.0:1.0:0.0	.	237	P01266	THYG_HUMAN	Y	237	ENSP00000367100:C237Y;ENSP00000220616:C237Y	ENSP00000220616:C237Y	C	+	2	0	TG	133963361	1.000000	0.71417	0.992000	0.48379	0.921000	0.55340	8.791000	0.91849	2.640000	0.89533	0.563000	0.77884	TGT		0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133894179	G	A	133894179	3	1	104	1	0	0	0	0	1	0	0	0	15813	1377	48	2	732	2	TG	8	133894179	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	20191993	133894179	12469843	50	5569											
CYC1	1537	hgsc.bcm.edu	37	8	145151526	145151527	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr8:145151526_145151527delCT	ENST00000318911.4	+	5	724_725	c.651_652delCT	c.(649-654)ggctacfs	p.Y218fs	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	218					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.Y218fs*38(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCTCACGGGCTACTGCGAGCC	0.594											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	ovary(1)	8																																								145223515	SO:0001589	frameshift_variant	1537			BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.651_652delCT	8.37:g.145151526_145151527delCT	ENSP00000317159:p.Tyr218fs	1692	145223514	Q5U062|Q6FHS7	Frame_Shift_Del	DEL	ENST00000318911.4	37	CCDS6415.1																																																																																				0.594	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		-	145151527	CT	-	145151526	7	5	104	1	0	1	0	1	0	0	0	0	4135	784	28	0	669	0	CYC1	8	145151526	Frame_Shift_Del	DEL	CT	TCGA-13-0900-01B-01W-0490-10	11257347	145151526	1212496	51	5570											
MCM10	55388	hgsc.bcm.edu	37	10	13217624	13217624	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr10:13217624G>T	ENST00000484800.2	+	6	813	c.710G>T	c.(709-711)aGt>aTt	p.S237I	MCM10_ENST00000378694.1_Missense_Mutation_p.S236I|MCM10_ENST00000378714.3_Missense_Mutation_p.S236I			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	237					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.S237I(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACCCCAGGAAGTTCTGGGGAA	0.517																																																1	Substitution - Missense(1)	ovary(1)	10											132	132	132					10																	13217624		2203	4300	6503	13257630	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.710G>T	10.37:g.13217624G>T	ENSP00000418268:p.Ser237Ile		13257630	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727257	0.30593	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.16324	2.36;2.36;2.35	5.42	-5.14	0.02875	.	1.310580	0.04451	N	0.372627	T	0.14141	0.0342	L	0.54323	1.7	0.09310	N	1	B;B;B	0.31054	0.306;0.071;0.042	B;B;B	0.25759	0.063;0.059;0.027	T	0.31833	-0.9929	10	0.36615	T	0.2	-16.8414	6.9107	0.24333	0.4578:0.207:0.3352:0.0	.	236;236;237	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	I	236;237;237;236	ENSP00000367986:S236I;ENSP00000418268:S237I;ENSP00000367966:S236I	ENSP00000354945:S237I	S	+	2	0	MCM10	13257630	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.089000	0.11180	-0.651000	0.05415	-0.137000	0.14449	AGT		0.517	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		T	13217624	G	T	13217624	3	4	104	1	0	0	0	0	1	0	0	0	9385	1029	36	3	728	3	MCM10	10	13217624	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10		13217624	122317123	52	5571											
PTCHD3	374308	hgsc.bcm.edu	37	10	27687473	27687473	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr10:27687473T>G	ENST00000438700.3	-	4	2171	c.2054A>C	c.(2053-2055)aAa>aCa	p.K685T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	685					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.K685T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATAGACATTTTTTTCAAAAAT	0.303																																																1	Substitution - Missense(1)	ovary(1)	10											36	37	37					10																	27687473		2198	4290	6488	27727479	SO:0001583	missense	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.2054A>C	10.37:g.27687473T>G	ENSP00000417658:p.Lys685Thr		27727479	I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.529733	0.00951	.	.	ENSG00000182077	ENST00000438700	D	0.85013	-1.93	4.09	1.65	0.23941	.	1.469460	0.03793	N	0.263183	T	0.77198	0.4095	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.58329	-0.7655	10	0.16420	T	0.52	-0.4404	8.2988	0.32001	0.0:0.1755:0.0:0.8245	.	685	Q3KNS1	PTHD3_HUMAN	T	685	ENSP00000417658:K685T	ENSP00000417658:K685T	K	-	2	0	PTCHD3	27727479	0.094000	0.21725	0.015000	0.15790	0.002000	0.02628	0.809000	0.27168	0.620000	0.30215	-0.388000	0.06559	AAA		0.303	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		G	27687473	T	G	27687473	3	3	104	1	0	0	0	0	1	0	0	0	12737	1841	64	5	253	5	PTCHD3	10	27687473	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10	14469849	27687473	107847274	53	5572											
BICC1	80114	hgsc.bcm.edu	37	10	60549146	60549146	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr10:60549146A>C	ENST00000373886.3	+	7	729	c.725A>C	c.(724-726)aAa>aCa	p.K242T		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	242					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K242T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GTATCATTTAAACAGCGTTCC	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											140	134	136					10																	60549146		2203	4300	6503	60219152	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.725A>C	10.37:g.60549146A>C	ENSP00000362993:p.Lys242Thr		60219152		Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612604	0.87258	.	.	ENSG00000122870	ENST00000373886	T	0.29397	1.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.45775	-0.9238	10	0.42905	T	0.14	-18.0414	15.9023	0.79387	1.0:0.0:0.0:0.0	.	242	Q9H694	BICC1_HUMAN	T	242	ENSP00000362993:K242T	ENSP00000362993:K242T	K	+	2	0	BICC1	60219152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.210000	0.77924	2.153000	0.67306	0.533000	0.62120	AAA		0.393	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		C	60549146	A	C	60549146	3	2	104	1	0	0	0	0	1	0	0	0	1427	14	1	5	751	5	BICC1	10	60549146	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	32861673	60549146	74985601	54	5573											
ADAMTS14	140766	hgsc.bcm.edu	37	10	72500808	72500808	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr10:72500808A>T	ENST00000373207.1	+	12	1814	c.1814A>T	c.(1813-1815)gAg>gTg	p.E605V	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E608V	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	605	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E608V(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AACAGCGAGGAGTGCCCTGGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	10											90	75	80					10																	72500808		2203	4300	6503	72170814	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1814A>T	10.37:g.72500808A>T	ENSP00000362303:p.Glu605Val		72170814	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676379	0.67928	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.03831	3.79;3.79	5.27	4.11	0.48088	.	0.132116	0.49916	D	0.000138	T	0.15392	0.0371	L	0.59967	1.855	0.42764	D	0.993811	D;B;D	0.60160	0.987;0.242;0.961	D;B;P	0.65684	0.937;0.314;0.868	T	0.00360	-1.1790	10	0.59425	D	0.04	.	11.9673	0.53042	0.8547:0.1453:0.0:0.0	.	538;605;608	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	V	608;605	ENSP00000362304:E608V;ENSP00000362303:E605V	ENSP00000362303:E605V	E	+	2	0	ADAMTS14	72170814	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	6.911000	0.75746	0.986000	0.38683	0.533000	0.62120	GAG		0.602	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72500808	A	T	72500808	3	4	104	1	0	0	0	0	1	0	0	0	259	304	11	5	1869	5	ADAMTS14	10	72500808	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	11951662	72500808	63033939	55	5574											
NRAP	4892	hgsc.bcm.edu	37	10	115402786	115402786	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr10:115402786C>G	ENST00000359988.3	-	12	1366	c.1122G>C	c.(1120-1122)aaG>aaC	p.K374N	NRAP_ENST00000369360.3_Intron|NRAP_ENST00000369358.4_Missense_Mutation_p.K374N|NRAP_ENST00000360478.3_Intron	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.K374N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCAGATCCTTCTTATACTCCA	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											179	157	165					10																	115402786		2203	4300	6503	115392776	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1122G>C	10.37:g.115402786C>G	ENSP00000353078:p.Lys374Asn		115392776		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312618	0.81358	.	.	ENSG00000197893	ENST00000369358;ENST00000359988;ENST00000369350;ENST00000369343	T;T	0.41400	1.0;1.0	5.76	4.86	0.63082	.	0.044787	0.85682	D	0.000000	T	0.67316	0.2880	M	0.85373	2.75	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.68943	0.947;0.961	T	0.74562	-0.3624	10	0.87932	D	0	.	15.2392	0.73455	0.0:0.9324:0.0:0.0676	.	374;374	A0AVL2;Q86VF7	.;NRAP_HUMAN	N	374;374;103;103	ENSP00000358365:K374N;ENSP00000353078:K374N	ENSP00000353078:K374N	K	-	3	2	NRAP	115392776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.525000	0.53502	1.578000	0.49821	0.650000	0.86243	AAG		0.393	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		G	115402786	C	G	115402786	3	3	104	1	0	0	0	0	1	0	0	0	10638	912	32	3	4194	3	NRAP	10	115402786	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	42901978	115402786	20131961	56	5575											
ELP4	26610	hgsc.bcm.edu	37	11	31671663	31671663	+	Splice_Site	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr11:31671663G>C	ENST00000350638.5	+	9	1072	c.1037G>C	c.(1036-1038)gGa>gCa	p.G346A	ELP4_ENST00000379163.5_Splice_Site_p.G347A|ELP4_ENST00000395934.2_Splice_Site_p.G346A|Z83001.1_ENST00000429821.1_RNA	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	346					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.G346A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TTTCCACAAGGATTGATTCAT	0.303																																																1	Substitution - Missense(1)	ovary(1)	11											44	42	42					11																	31671663		1786	4056	5842	31628239	SO:0001630	splice_region_variant	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1037-1G>C	11.37:g.31671663G>C			31628239	B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206734	0.39003	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	D;D;D	0.83755	-1.76;-1.76;-1.76	5.59	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93904	0.7191	9	.	.	.	.	14.3765	0.66881	0.0712:0.0:0.9288:0.0	.	347;346;346	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	A	346;347;346	ENSP00000298937:G346A;ENSP00000368461:G347A;ENSP00000379267:G346A	.	G	+	2	0	ELP4	31628239	1.000000	0.71417	0.987000	0.45799	0.683000	0.39861	8.247000	0.89830	1.362000	0.46000	0.585000	0.79938	GGA		0.303	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040	Missense_Mutation	C	31671663	G	C	31671663	5	2	104	1	0	0	0	0	0	0	1	0	5082	1188	41	3	1071	3	ELP4	11	31671663	Splice_Site	SNP	G	TCGA-13-0900-01B-01W-0490-10		31671663	103334853	57	5576											
OR5M9	390162	hgsc.bcm.edu	37	11	56230141	56230141	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr11:56230141A>T	ENST00000279791.1	-	1	736	c.737T>A	c.(736-738)gTt>gAt	p.V246D		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V246D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AAACATAGAAACAGCCGTCAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											55	51	52					11																	56230141		2201	4296	6497	55986717	SO:0001583	missense	390162			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.737T>A	11.37:g.56230141A>T	ENSP00000279791:p.Val246Asp		55986717	Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327014	0.41197	.	.	ENSG00000150269	ENST00000279791	T	0.00367	7.78	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	N	0.001219	T	0.01905	0.0060	H	0.98466	4.24	0.44611	D	0.997581	D	0.89917	1.0	D	0.97110	1.0	T	0.02484	-1.1152	10	0.87932	D	0	-14.7169	11.8504	0.52407	1.0:0.0:0.0:0.0	.	246	Q8NGP3	OR5M9_HUMAN	D	246	ENSP00000279791:V246D	ENSP00000279791:V246D	V	-	2	0	OR5M9	55986717	0.247000	0.23920	0.634000	0.29324	0.014000	0.08584	4.479000	0.60236	1.754000	0.51921	0.443000	0.29094	GTT		0.522	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		T	56230141	A	T	56230141	3	4	104	1	0	0	0	0	1	0	0	0	11177	43	2	5	197	5	OR5M9	11	56230141	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	24558478	56230141	78776375	58	5577											
METTL12	751071	hgsc.bcm.edu	37	11	62433355	62433356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr11:62433355_62433356insC	ENST00000532971.1	+	2	261_262	c.4_5insC	c.(4-6)gccfs	p.A2fs	RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000525675.1_5'Flank|C11orf48_ENST00000431002.2_Intron|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000524958.1_5'Flank|METTL12_ENST00000398922.2_3'UTR	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	2						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.A3fs*25(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TCTCCAGATGGCCGCGCTGCGT	0.614																																																1	Insertion - Frameshift(1)	ovary(1)	11																																								62189932	SO:0001589	frameshift_variant	751071			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.6dupC	11.37:g.62433357_62433357dupC	ENSP00000431287:p.Ala2fs		62189931	B7Z4C1	Frame_Shift_Ins	INS	ENST00000532971.1	37	CCDS41657.1																																																																																				0.614	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1	NM_001043229		C	62433356	-	C	62433355	7	5	104	1	0	1	1	0	0	0	0	0	9496	1203	42	0	6	0	METTL12	11	62433355	Frame_Shift_Ins	INS	-	TCGA-13-0900-01B-01W-0490-10	6203214	62433355	72573161	59	5578											
PPFIA1	8500	hgsc.bcm.edu	37	11	70170996	70170996	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr11:70170996G>A	ENST00000253925.7	+	4	625	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R137Q|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	137					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.R137Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGGCATGAGCGGTCTCTTAGG	0.448																																																1	Substitution - Missense(1)	ovary(1)	11											146	153	151					11																	70170996		2200	4294	6494	69848644	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.410G>A	11.37:g.70170996G>A	ENSP00000253925:p.Arg137Gln		69848644	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328947	0.95733	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000530746	T;T;T	0.37584	1.19;1.19;1.19	5.17	4.25	0.50352	.	0.152719	0.41938	D	0.000798	T	0.46502	0.1396	N	0.24115	0.695	0.50039	D	0.999846	D;D	0.89917	0.999;1.0	D;D	0.79108	0.971;0.992	T	0.51348	-0.8717	10	0.59425	D	0.04	.	16.0166	0.80443	0.0:0.1351:0.8649:0.0	.	137;137	Q13136;Q13136-2	LIPA1_HUMAN;.	Q	137	ENSP00000253925:R137Q;ENSP00000374198:R137Q;ENSP00000432722:R137Q	ENSP00000253925:R137Q	R	+	2	0	PPFIA1	69848644	1.000000	0.71417	0.185000	0.23176	0.979000	0.70002	7.679000	0.84048	1.287000	0.44583	0.650000	0.86243	CGG		0.448	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		A	70170996	G	A	70170996	3	1	104	1	0	0	0	0	1	0	0	0	12309	1116	39	1	420	1	PPFIA1	11	70170996	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	7737641	70170996	64835520	60	5579											
CCDC67	159989	hgsc.bcm.edu	37	11	93103253	93103253	+	Silent	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr11:93103253G>A	ENST00000298050.3	+	6	547	c.447G>A	c.(445-447)aaG>aaA	p.K149K		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	149					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.K141K(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTAGAGCAAAGTCAAGAGAAT	0.303																																																1	Substitution - coding silent(1)	ovary(1)	11											51	49	50					11																	93103253		1800	4054	5854	92742901	SO:0001819	synonymous_variant	159989			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.447G>A	11.37:g.93103253G>A			92742901	Q8NEF1|Q96LL7	Silent	SNP	ENST00000298050.3	37	CCDS44707.1																																																																																				0.303	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		A	93103253	G	A	93103253	2	1	104	1	0	0	0	0	0	0	0	1	2839	1020	36	2		2	CCDC67	11	93103253	Silent	SNP	G	TCGA-13-0900-01B-01W-0490-10	22932257	93103253	41903263	61	5580											
GPR19	2842	hgsc.bcm.edu	37	12	12814170	12814170	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr12:12814170G>C	ENST00000540510.1	-	2	1405	c.1213C>G	c.(1213-1215)Ccc>Gcc	p.P405A	GPR19_ENST00000332427.2_Missense_Mutation_p.P405A			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P405A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GAGTTAATGGGCCAAGCAAGC	0.363																																																1	Substitution - Missense(1)	ovary(1)	12											83	77	79					12																	12814170		2203	4300	6503	12705437	SO:0001583	missense	2842				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1213C>G	12.37:g.12814170G>C	ENSP00000441832:p.Pro405Ala		12705437	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800377	0.70567	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.69435	-0.4;-0.4	5.64	5.64	0.86602	.	0.058339	0.64402	D	0.000001	T	0.66636	0.2809	L	0.27053	0.805	0.80722	D	1	D	0.58268	0.982	P	0.51170	0.661	T	0.70880	-0.4752	10	0.87932	D	0	-26.0629	19.3003	0.94141	0.0:0.0:1.0:0.0	.	405	Q15760	GPR19_HUMAN	A	405	ENSP00000441832:P405A;ENSP00000333744:P405A	ENSP00000333744:P405A	P	-	1	0	GPR19	12705437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.946000	0.87746	2.658000	0.90341	0.650000	0.86243	CCC		0.363	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		C	12814170	G	C	12814170	3	2	104	1	0	0	0	0	1	0	0	0	6679	1203	42	3	38	3	GPR19	12	12814170	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10		12814170	121037725	62	5581											
PFDN5	5204	hgsc.bcm.edu	37	12	53690060	53690060	+	Splice_Site	SNP	G	G	C	rs111445381		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr12:53690060G>C	ENST00000551018.1	+	3	484		c.e3+1		PFDN5_ENST00000334478.4_Splice_Site|PFDN5_ENST00000351500.3_Intron|RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000550846.1_Intron	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)	p.?(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						GACGAGTTCTGTATCCTTTCC	0.493																																																1	Unknown(1)	ovary(1)	12											80	74	76					12																	53690060		2203	4300	6503	51976327	SO:0001630	splice_region_variant	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"prefoldin 5"			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.207+1G>C	12.37:g.53690060G>C			51976327	A8K9A8|Q54AA8|Q9C083|Q9C084	Splice_Site	SNP	ENST00000551018.1	37	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908500	0.72868	.	.	ENSG00000123349	ENST00000551018;ENST00000334478	.	.	.	5.32	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2114	0.54381	0.0:0.1717:0.8283:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFDN5	51976327	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.891000	0.87319	1.358000	0.45922	0.462000	0.41574	.		0.493	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2		Intron	C	53690060	G	C	53690060	5	2	104	1	0	0	0	0	0	0	1	0	11758	1391	48	3	218	3	PFDN5	12	53690060	Splice_Site	SNP	G	TCGA-13-0900-01B-01W-0490-10	40875890	53690060	80161835	63	5582											
CIT	11113	hgsc.bcm.edu	37	12	120198851	120198851	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr12:120198851G>C	ENST00000261833.7	-	19	2239	c.2187C>G	c.(2185-2187)gaC>gaG	p.D729E	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.D771E	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	729					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D772E(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTATCTGATTGTCCAACACCT	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											129	117	121					12																	120198851		2203	4300	6503	118683234	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2187C>G	12.37:g.120198851G>C	ENSP00000261833:p.Asp729Glu		118683234	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.725|6.725	0.502471|0.502471	0.12822|0.12822	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.76709|.	-1.04;0.16|.	5.99|5.99	5.01|5.01	0.66863|0.66863	.|.	0.056241|.	0.64402|.	D|.	0.000002|.	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.01576|0.01576	-0.805|-0.805	0.33787|0.33787	D|D	0.624932|0.624932	B;B;B|.	0.06786|.	0.0;0.001;0.0|.	B;B;B|.	0.04013|.	0.0;0.001;0.001|.	T|T	0.25293|0.25293	-1.0136|-1.0136	10|5	0.02654|.	T|.	1|.	.|.	8.8123|8.8123	0.34974|0.34974	0.0772:0.0:0.6872:0.2356|0.0772:0.0:0.6872:0.2356	.|.	771;729;262|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	E|R	771;729|357	ENSP00000376306:D771E;ENSP00000261833:D729E|.	ENSP00000261833:D729E|.	D|T	-|-	3|2	2|0	CIT|CIT	118683234|118683234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	1.560000|1.560000	0.36331|0.36331	1.377000|1.377000	0.46286|0.46286	0.655000|0.655000	0.94253|0.94253	GAC|ACA		0.478	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		C	120198851	G	C	120198851	3	2	104	1	0	0	0	0	1	0	0	0	3438	1368	48	3	4012	3	CIT	12	120198851	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	66508791	120198851	13653044	64	5583											
BCL7A	605	hgsc.bcm.edu	37	12	122492854	122492854	+	Intron	SNP	A	A	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr12:122492854A>C	ENST00000261822.4	+	5	767				BCL7A_ENST00000538010.1_Silent_p.R195R	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A						negative regulation of transcription, DNA-templated (GO:0045892)			p.R195R(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GAGGTCTCAGAGGGGCAGCCA	0.557			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	1	Substitution - coding silent(1)	ovary(1)	12											71	76	74					12																	122492854		2203	4300	6503	120977237	SO:0001627	intron_variant	605			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.561+22A>C	12.37:g.122492854A>C		1519	120977237	B4DJN6|B7ZB21|Q13843|Q14CT7	Silent	SNP	ENST00000261822.4	37	CCDS53841.1																																																																																				0.557	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			C	122492854	A	C	122492854	1	2	104	0	1	0	0	0	0	0	0	0	1378	295	11	5		5	BCL7A	12	122492854	Intron	SNP	A	TCGA-13-0900-01B-01W-0490-10	2294003	122492854	11359041	65	5584											
NCOR2	9612	hgsc.bcm.edu	37	12	124904572	124904572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr12:124904572G>T	ENST00000405201.1	-	13	1413	c.1413C>A	c.(1411-1413)taC>taA	p.Y471*	NCOR2_ENST00000397355.1_Nonsense_Mutation_p.Y471*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.Y41*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.Y470*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.Y470*|NCOR2_ENST00000356219.3_Nonsense_Mutation_p.Y471*			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	471	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Y471*(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTTAGTCAGGTAGTAATAGA	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	12											99	106	104					12																	124904572		2009	4171	6180	123470525	SO:0001587	stop_gained	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1413C>A	12.37:g.124904572G>T	ENSP00000384018:p.Tyr471*		123470525	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Nonsense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	38	7.218913	0.98143	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000420698	.	.	.	4.52	4.52	0.55395	.	0.356240	0.27266	N	0.020143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6039	17.6457	0.88148	0.0:0.0:1.0:0.0	.	.	.	.	X	471;470;471;471;471;41;470;471;471	.	ENSP00000348551:Y471X	Y	-	3	2	NCOR2	123470525	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.436000	0.80404	2.255000	0.74692	0.561000	0.74099	TAC		0.567	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		T	124904572	G	T	124904572	4	4	104	1	0	0	0	0	0	1	0	0	10236	1256	44	3	6295	3	NCOR2	12	124904572	Nonsense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	2411718	124904572	8947323	66	5585											
FLJ10357	55701	hgsc.bcm.edu	37	14	21544978	21544978	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr14:21544978C>G	ENST00000298694.4	+	8	2090	c.1963C>G	c.(1963-1965)Cca>Gca	p.P655A	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P655A			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	655						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P655A(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGTGGCCAAGCCAGAGGAGCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	14											51	51	51					14																	21544978		2203	4300	6503	20614818	SO:0001583	missense	55701				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1963C>G	14.37:g.21544978C>G	ENSP00000298694:p.Pro655Ala		20614818	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826739	0.71143	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02121	4.5;4.44	5.76	5.76	0.90799	.	0.000000	0.50627	D	0.000103	T	0.04770	0.0129	M	0.63843	1.955	0.35948	D	0.833712	P	0.51791	0.948	B	0.43701	0.428	T	0.47182	-0.9137	10	0.36615	T	0.2	.	15.4576	0.75327	0.0:1.0:0.0:0.0	.	655	Q8TER5	ARH40_HUMAN	A	655	ENSP00000298694:P655A;ENSP00000298693:P655A	ENSP00000298693:P655A	P	+	1	0	ARHGEF40	20614818	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.823000	0.39062	2.715000	0.92844	0.561000	0.74099	CCA		0.562	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			G	21544978	C	G	21544978	3	3	104	1	0	0	0	0	1	0	0	0	5926	739	26	3	1993	3	FLJ10357	14	21544978	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10		21544978	85804562	67	5586											
OR4E2	26686	hgsc.bcm.edu	37	14	22133308	22133308	+	Silent	SNP	A	A	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr14:22133308A>C	ENST00000408935.1	+	1	12	c.12A>C	c.(10-12)ctA>ctC	p.L4L		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L4L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGGACAGTCTAAACCAAACAA	0.348																																																1	Substitution - coding silent(1)	ovary(1)	14											114	100	104					14																	22133308		1851	4090	5941	21203148	SO:0001819	synonymous_variant	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.12A>C	14.37:g.22133308A>C			21203148	Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	CCDS41916.1																																																																																				0.348	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			C	22133308	A	C	22133308	2	2	104	1	0	0	0	0	0	0	0	1	11060	349	13	5		5	OR4E2	14	22133308	Silent	SNP	A	TCGA-13-0900-01B-01W-0490-10	588330	22133308	85216232	68	5587											
KCNH5	27133	hgsc.bcm.edu	37	14	63453857	63453857	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr14:63453857C>A	ENST00000322893.7	-	5	750	c.482G>T	c.(481-483)aGt>aTt	p.S161I	KCNH5_ENST00000420622.2_Missense_Mutation_p.S161I|KCNH5_ENST00000394964.2_Missense_Mutation_p.S103I|KCNH5_ENST00000394968.1_Missense_Mutation_p.S103I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	161					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.S161I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGCAAAACACTTCGGCTATT	0.383																																																1	Substitution - Missense(1)	ovary(1)	14											138	128	131					14																	63453857		2203	4300	6503	62523610	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.482G>T	14.37:g.63453857C>A	ENSP00000321427:p.Ser161Ile		62523610	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268704	0.59540	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98968	-5.28;-5.12;-5.11;-5.11	5.71	5.71	0.89125	.	0.041576	0.85682	D	0.000000	D	0.97748	0.9261	L	0.52573	1.65	0.49389	D	0.999785	B;P;B;P	0.44478	0.286;0.488;0.12;0.836	B;B;B;B	0.44044	0.106;0.24;0.119;0.439	D	0.98132	1.0431	10	0.52906	T	0.07	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	103;103;161;161	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	I	161;161;103;103	ENSP00000321427:S161I;ENSP00000395439:S161I;ENSP00000378419:S103I;ENSP00000378415:S103I	ENSP00000321427:S161I	S	-	2	0	KCNH5	62523610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.837000	0.62796	2.697000	0.92050	0.563000	0.77884	AGT		0.383	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		A	63453857	C	A	63453857	3	1	104	1	0	0	0	0	1	0	0	0	8035	565	20	3	2546	3	KCNH5	14	63453857	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	41320549	63453857	43895683	69	5588											
SYNE2	23224	hgsc.bcm.edu	37	14	64516515	64516515	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr14:64516515C>T	ENST00000344113.4	+	47	7776	c.7564C>T	c.(7564-7566)Ctc>Ttc	p.L2522F	SYNE2_ENST00000554584.1_Missense_Mutation_p.L2555F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L2522F|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2522					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L2522F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATATTGTGTCCTCAGAGATTT	0.373																																																1	Substitution - Missense(1)	ovary(1)	14											76	73	74					14																	64516515		1840	4090	5930	63586268	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7564C>T	14.37:g.64516515C>T	ENSP00000341781:p.Leu2522Phe		63586268	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.909	1.208967	0.22205	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57907	1.02;1.02;0.37	5.68	4.72	0.59763	.	0.244723	0.28908	N	0.013754	T	0.50718	0.1632	L	0.27053	0.805	0.33159	D	0.546752	D;D	0.63046	0.986;0.992	P;P	0.62813	0.809;0.907	T	0.54417	-0.8297	10	0.21540	T	0.41	.	7.4393	0.27174	0.3004:0.4765:0.2231:0.0	.	2522;2522	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	2522;2522;2555;2555	ENSP00000350719:L2522F;ENSP00000341781:L2522F;ENSP00000452570:L2555F	ENSP00000261678:L2555F	L	+	1	0	SYNE2	63586268	0.668000	0.27493	0.156000	0.22583	0.350000	0.29205	1.118000	0.31246	2.698000	0.92095	0.585000	0.79938	CTC		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64516515	C	T	64516515	3	4	104	1	0	0	0	0	1	0	0	0	15446	681	24	2	7746	2	SYNE2	14	64516515	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	1062658	64516515	42833025	70	5589											
FBLN5	10516	hgsc.bcm.edu	37	14	92403371	92403371	+	Nonsense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr14:92403371G>C	ENST00000342058.4	-	4	892	c.299C>G	c.(298-300)tCa>tGa	p.S100*	FBLN5_ENST00000267620.10_Nonsense_Mutation_p.S141*|FBLN5_ENST00000556154.1_Nonsense_Mutation_p.S105*	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	100					cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.S100*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GTTTGGAGCTGAGAGTGGTGG	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	14											114	108	110					14																	92403371		2203	4300	6503	91473124	SO:0001587	stop_gained	10516			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.299C>G	14.37:g.92403371G>C	ENSP00000345008:p.Ser100*		91473124	O75966|Q6IAL4|Q6UWA3	Nonsense_Mutation	SNP	ENST00000342058.4	37	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365872	0.82463	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	.	.	.	5.58	5.58	0.84498	.	0.517425	0.20403	N	0.093016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.5675	0.95401	0.0:0.0:1.0:0.0	.	.	.	.	X	141;100;105	.	ENSP00000267620:S197X	S	-	2	0	FBLN5	91473124	0.816000	0.29132	0.024000	0.17045	0.332000	0.28634	5.351000	0.66022	2.640000	0.89533	0.561000	0.74099	TCA		0.557	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			C	92403371	G	C	92403371	4	2	104	1	0	0	0	0	0	1	0	0	5700	1294	45	3	1079	3	FBLN5	14	92403371	Nonsense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	27886856	92403371	14946169	71	5590											
SLC24A4	123041	hgsc.bcm.edu	37	14	92949084	92949084	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr14:92949084T>A	ENST00000532405.1	+	13	1542	c.1316T>A	c.(1315-1317)gTc>gAc	p.V439D	SLC24A4_ENST00000298877.1_Missense_Mutation_p.V422D|SLC24A4_ENST00000351924.5_Missense_Mutation_p.V403D|SLC24A4_ENST00000393265.2_Missense_Mutation_p.V375D|SLC24A4_ENST00000531433.1_Missense_Mutation_p.V420D			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	439					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.V422D(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTCCTGTGCGTCACCATTCCC	0.587																																					NSCLC(10;315 435 10383 28450 38798)											1	Substitution - Missense(1)	ovary(1)	14											129	108	115					14																	92949084		2203	4300	6503	92018837	SO:0001583	missense	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1316T>A	14.37:g.92949084T>A	ENSP00000431840:p.Val439Asp		92018837	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	T	14.97	2.693410	0.48202	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079	T;T;T;T;T	0.69435	-0.38;0.02;0.03;-0.38;-0.4	5.74	4.59	0.56863	.	0.363088	0.33732	N	0.004619	T	0.60779	0.2295	L	0.59436	1.845	0.44579	D	0.997544	B;B;B	0.25312	0.042;0.042;0.123	B;B;B	0.29598	0.104;0.104;0.049	T	0.59123	-0.7513	10	0.54805	T	0.06	.	6.7164	0.23306	0.0:0.1383:0.1302:0.7315	.	420;375;439	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	D	375;420;439;422;403;291	ENSP00000376948:V375D;ENSP00000433302:V420D;ENSP00000431840:V439D;ENSP00000298877:V422D;ENSP00000337789:V403D	ENSP00000298877:V422D	V	+	2	0	SLC24A4	92018837	0.999000	0.42202	0.793000	0.32043	0.910000	0.53928	4.003000	0.57061	1.002000	0.39104	0.459000	0.35465	GTC		0.587	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		A	92949084	T	A	92949084	3	1	104	1	0	0	0	0	1	0	0	0	14471	1667	58	5	1315	5	SLC24A4	14	92949084	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10	545713	92949084	14400456	72	5591											
CORO2B	10391	hgsc.bcm.edu	37	15	69011494	69011494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr15:69011494C>A	ENST00000566799.1	+	10	1121	c.1092C>A	c.(1090-1092)taC>taA	p.Y364*	CORO2B_ENST00000540068.1_Nonsense_Mutation_p.Y359*|CORO2B_ENST00000261861.5_Nonsense_Mutation_p.Y359*|CORO2B_ENST00000543950.1_Nonsense_Mutation_p.Y359*			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	364					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.Y364*(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAGATTCCTACCAGGAAGACA	0.572																																																1	Substitution - Nonsense(1)	ovary(1)	15											107	104	105					15																	69011494		2200	4298	6498	66798548	SO:0001587	stop_gained	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1092C>A	15.37:g.69011494C>A	ENSP00000454783:p.Tyr364*		66798548	A8K0W3|O94767|Q8TAN1	Nonsense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	36	5.731451	0.96856	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	.	.	.	5.46	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-33.1983	12.7023	0.57041	0.0:0.92:0.0:0.08	.	.	.	.	X	364;359;359	.	ENSP00000261861:Y364X	Y	+	3	2	CORO2B	66798548	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.754000	0.38369	1.309000	0.44985	0.313000	0.20887	TAC		0.572	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		A	69011494	C	A	69011494	4	1	104	1	0	0	0	0	0	1	0	0	3757	518	18	3	1130	3	CORO2B	15	69011494	Nonsense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10		69011494	33519898	73	5592											
SIN3A	25942	hgsc.bcm.edu	37	15	75682046	75682046	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr15:75682046G>A	ENST00000394947.3	-	16	3282	c.2968C>T	c.(2968-2970)Cat>Tat	p.H990Y	SIN3A_ENST00000394949.4_Missense_Mutation_p.H990Y|SIN3A_ENST00000360439.4_Missense_Mutation_p.H990Y	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.H990Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATGTAGGCATGAATGGTGAAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	15											231	172	192					15																	75682046		2197	4294	6491	73469099	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2968C>T	15.37:g.75682046G>A	ENSP00000378402:p.His990Tyr		73469099		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829543	0.90955	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64445	-0.6406	10	0.42905	T	0.14	-24.0968	18.9999	0.92829	0.0:0.0:1.0:0.0	.	990	Q96ST3	SIN3A_HUMAN	Y	990	ENSP00000378402:H990Y;ENSP00000378403:H990Y;ENSP00000353622:H990Y	ENSP00000353622:H990Y	H	-	1	0	SIN3A	73469099	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.790000	0.99075	2.742000	0.94016	0.650000	0.86243	CAT		0.478	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		A	75682046	G	A	75682046	3	1	104	1	0	0	0	0	1	0	0	0	14328	1290	45	2	877	2	SIN3A	15	75682046	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	6670552	75682046	26849346	74	5593											
PSTPIP1	9051	hgsc.bcm.edu	37	15	77310554	77310554	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr15:77310554G>C	ENST00000558012.1	+	2	591	c.102G>C	c.(100-102)aaG>aaC	p.K34N	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.K34N|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.K33N|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.K34N	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	34	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)		p.K34N(1)		breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						ATGGCAGGAAGATGTGCAAAG	0.627																																																1	Substitution - Missense(1)	ovary(1)	15											32	39	36					15																	77310554		2152	4241	6393	75097609	SO:0001583	missense	9051			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.102G>C	15.37:g.77310554G>C	ENSP00000452746:p.Lys34Asn		75097609	B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	ENST00000558012.1	37	CCDS45312.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743810	0.49151	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.18810	2.19;2.38	4.35	4.35	0.52113	Fps/Fes/Fer/CIP4 homology (3);Prismane-like (1);	0.178684	0.43579	D	0.000553	T	0.30198	0.0757	L	0.36672	1.1	0.44247	D	0.997094	P;D;D;P	0.57257	0.593;0.958;0.979;0.773	B;P;P;P	0.54856	0.32;0.762;0.76;0.449	T	0.07102	-1.0790	10	0.72032	D	0.01	-53.0302	16.0206	0.80486	0.0:0.0:1.0:0.0	.	34;33;34;34	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	N	34;33	ENSP00000368914:K34N;ENSP00000267939:K33N	ENSP00000267939:K33N	K	+	3	2	PSTPIP1	75097609	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.729000	0.54999	2.137000	0.66172	0.491000	0.48974	AAG		0.627	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	NM_003978		C	77310554	G	C	77310554	3	2	104	1	0	0	0	0	1	0	0	0	12724	933	33	3	108	3	PSTPIP1	15	77310554	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	1628508	77310554	25220838	75	5594											
ITGAL	3683	hgsc.bcm.edu	37	16	30507430	30507430	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr16:30507430G>A	ENST00000356798.6	+	14	1696	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.E423K|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	506					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.E506K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGGGTTTGAAGAAGTCTCAGA	0.532																																					NSCLC(110;1462 1641 3311 33990 49495)											1	Substitution - Missense(1)	ovary(1)	16											73	73	73					16																	30507430		2197	4300	6497	30414931	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1516G>A	16.37:g.30507430G>A	ENSP00000349252:p.Glu506Lys		30414931	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424316	0.43020	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.11063	2.81;2.81	5.94	-3.08	0.05347	.	1.812460	0.02606	N	0.101552	T	0.04272	0.0118	N	0.02011	-0.69	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.12837	0.008;0.002	T	0.40590	-0.9555	10	0.56958	D	0.05	.	5.166	0.15086	0.4697:0.2704:0.2598:0.0	.	423;506	Q96HB1;P20701	.;ITAL_HUMAN	K	506;423	ENSP00000349252:E506K;ENSP00000350886:E423K	ENSP00000349252:E506K	E	+	1	0	ITGAL	30414931	0.000000	0.05858	0.000000	0.03702	0.556000	0.35491	-0.040000	0.12104	-0.061000	0.13110	0.563000	0.77884	GAA		0.532	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			A	30507430	G	A	30507430	3	1	104	1	0	0	0	0	1	0	0	0	7886	943	33	2	1570	2	ITGAL	16	30507430	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10		30507430	59847323	76	5595											
GPT2	84706	hgsc.bcm.edu	37	16	46931607	46931607	+	Silent	SNP	C	C	T	rs371230832	byFrequency	TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr16:46931607C>T	ENST00000340124.4	+	3	403	c.291C>T	c.(289-291)gaC>gaT	p.D97D	GPT2_ENST00000440783.2_5'UTR	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	97					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.D97D(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	ACATCGGGGACGCCCAGGCTA	0.612													C|||	2	0.000399361	0	0.0014	5008	,	,		15995	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	16						C	,	2,4404	4.2+/-10.8	0,2,2201	55	58	57		,291	-1.9	1	16		57	0,8600		0,0,4300	no	utr-5,coding-synonymous	GPT2	NM_001142466.1,NM_133443.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	,97/524	46931607	2,13004	2203	4300	6503	45489108	SO:0001819	synonymous_variant	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.291C>T	16.37:g.46931607C>T			45489108	Q8N9E2	Silent	SNP	ENST00000340124.4	37	CCDS10725.1																																																																																				0.612	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			T	46931607	C	T	46931607	2	4	104	1	0	0	0	0	0	0	0	1	6738	535	19	1		1	GPT2	16	46931607	Silent	SNP	C	TCGA-13-0900-01B-01W-0490-10	16424177	46931607	43423146	77	5596											
CDH5	1003	hgsc.bcm.edu	37	16	66420737	66420737	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr16:66420737A>C	ENST00000341529.3	+	3	384	c.236A>C	c.(235-237)aAt>aCt	p.N79T	CDH5_ENST00000563425.2_Missense_Mutation_p.N79T	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.N79T(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AGTCGCAAGAATGCCAAGTAC	0.537																																																1	Substitution - Missense(1)	ovary(1)	16											70	56	61					16																	66420737		2202	4300	6502	64978238	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.236A>C	16.37:g.66420737A>C	ENSP00000344115:p.Asn79Thr		64978238	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.39|13.39	2.222822|2.222822	0.39300|0.39300	.|.	.|.	ENSG00000179776|ENSG00000179776	ENST00000539262|ENST00000341529;ENST00000379531	.|T	.|0.51325	.|0.71	6.08|6.08	4.98|4.98	0.66077|0.66077	.|Cadherin (3);	.|.	.|.	.|.	.|.	T|T	0.48077|0.48077	0.1480|0.1480	M|M	0.64676|0.64676	1.99|1.99	0.80722|0.80722	D|D	1|1	.|B	.|0.18310	.|0.027	.|B	.|0.29077	.|0.098	T|T	0.41910|0.41910	-0.9482|-0.9482	6|9	0.02654|0.45353	T|T	1|0.12	.|.	11.7466|11.7466	0.51823|0.51823	0.8678:0.0:0.0:0.1322|0.8678:0.0:0.0:0.1322	.|.	.|79	.|P33151	.|CADH5_HUMAN	L|T	1|79	.|ENSP00000344115:N79T	ENSP00000437691:M1L|ENSP00000344115:N79T	M|N	+|+	1|2	0|0	CDH5|CDH5	64978238|64978238	0.999000|0.999000	0.42202|0.42202	0.798000|0.798000	0.32154|0.32154	0.273000|0.273000	0.26683|0.26683	4.349000|4.349000	0.59385|0.59385	1.103000|1.103000	0.41568|0.41568	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.537	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		C	66420737	A	C	66420737	3	2	104	1	0	0	0	0	1	0	0	0	3113	101	4	5	242	5	CDH5	16	66420737	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	19489130	66420737	23934016	78	5597											
PLA2G15	23659	hgsc.bcm.edu	37	16	68293421	68293422	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr16:68293421_68293422delGT	ENST00000219345.5	+	6	1183_1184	c.1100_1101delGT	c.(1099-1101)agtfs	p.S367fs	RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Frame_Shift_Del_p.S273fs|PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Frame_Shift_Del_p.S167fs|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	367					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.A368fs*>45(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AACTTGAAGAGTGCCCTGCAGT	0.594																																																1	Deletion - Frameshift(1)	ovary(1)	16																																								66850923	SO:0001589	frameshift_variant	23659			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.1100_1101delGT	16.37:g.68293421_68293422delGT	ENSP00000219345:p.Ser367fs		66850922	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Frame_Shift_Del	DEL	ENST00000219345.5	37	CCDS10864.1																																																																																				0.594	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		-	68293422	GT	-	68293421	7	5	104	1	0	1	0	1	0	0	0	0	11992	1029	36	0	1122	0	PLA2G15	16	68293421	Frame_Shift_Del	DEL	GT	TCGA-13-0900-01B-01W-0490-10	1872684	68293421	22061332	79	5598											
ZFHX3	463	hgsc.bcm.edu	37	16	72827204	72827204	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr16:72827204A>C	ENST00000268489.5	-	9	10049	c.9377T>G	c.(9376-9378)cTc>cGc	p.L3126R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L2212R|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3126					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L3126R(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAGGCCCGGGAGCAACACAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	16											97	104	101					16																	72827204		2198	4300	6498	71384705	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9377T>G	16.37:g.72827204A>C	ENSP00000268489:p.Leu3126Arg		71384705	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475044	0.26511	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.77489	-1.1;-1.07	5.84	5.84	0.93424	.	0.000000	0.45126	D	0.000390	D	0.86276	0.5894	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.87498	0.2431	10	0.87932	D	0	.	16.2167	0.82231	1.0:0.0:0.0:0.0	.	3126	Q15911	ZFHX3_HUMAN	R	3126;2212	ENSP00000268489:L3126R;ENSP00000438926:L2212R	ENSP00000268489:L3126R	L	-	2	0	ZFHX3	71384705	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.297000	0.96120	2.231000	0.72958	0.533000	0.62120	CTC		0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		C	72827204	A	C	72827204	3	2	104	1	0	0	0	0	1	0	0	0	17634	304	11	5	1742	5	ZFHX3	16	72827204	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	4533783	72827204	17527549	80	5599											
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	104	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10		7577120	73618090	81	5600											
CYTSB	92521	hgsc.bcm.edu	37	17	20107793	20107793	+	Missense_Mutation	SNP	C	C	G	rs374473392		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr17:20107793C>G	ENST00000261503.5	+	4	482	c.431C>G	c.(430-432)aCg>aGg	p.T144R	SPECC1_ENST00000395527.4_Missense_Mutation_p.T144R|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395530.2_Missense_Mutation_p.T63R|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.T144R|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395525.3_Missense_Mutation_p.T63R|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.T63R	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	144					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.T144R(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCCACTCCTACGAAACACCTG	0.522																																																1	Substitution - Missense(1)	ovary(1)	17											127	130	129					17																	20107793		2203	4300	6503	20048385	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.431C>G	17.37:g.20107793C>G	ENSP00000261503:p.Thr144Arg		20048385	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739625	0.49045	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.64618	-0.11;2.89;2.92;2.92	4.73	3.75	0.43078	.	0.239400	0.50627	D	0.000112	T	0.70928	0.3280	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.987	D;D;D;P	0.71414	0.963;0.973;0.973;0.596	T	0.67158	-0.5741	10	0.22109	T	0.4	-8.5692	11.1428	0.48413	0.0:0.9061:0.0:0.0939	.	63;63;144;144	Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;CYTSB_HUMAN	R	144;144;144;63;63;63	ENSP00000261503:T144R;ENSP00000378900:T144R;ENSP00000378893:T63R;ENSP00000378896:T63R	ENSP00000261503:T144R	T	+	2	0	SPECC1	20048385	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	5.466000	0.66731	1.293000	0.44690	0.591000	0.81541	ACG		0.522	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		G	20107793	C	G	20107793	3	3	104	1	0	0	0	0	1	0	0	0	4210	536	19	3	485	3	CYTSB	17	20107793	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	12530673	20107793	61087417	82	5601											
SLFN5	162394	hgsc.bcm.edu	37	17	33591527	33591527	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr17:33591527A>T	ENST00000299977.4	+	4	1612	c.1464A>T	c.(1462-1464)ttA>ttT	p.L488F	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	488					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L488F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CTGGGAGGTTATGCATCACCC	0.448																																																1	Substitution - Missense(1)	ovary(1)	17											121	112	115					17																	33591527		2203	4300	6503	30615640	SO:0001583	missense	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1464A>T	17.37:g.33591527A>T	ENSP00000299977:p.Leu488Phe		30615640	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	a	17.94	3.511228	0.64522	.	.	ENSG00000166750	ENST00000299977	T	0.02345	4.33	3.36	-0.194	0.13240	.	0.578409	0.13047	N	0.418056	T	0.06234	0.0161	M	0.63843	1.955	0.09310	N	0.999997	D	0.58620	0.983	P	0.53401	0.725	T	0.28933	-1.0028	10	0.41790	T	0.15	.	5.962	0.19305	0.3711:0.0:0.6289:0.0	.	488	Q08AF3	SLFN5_HUMAN	F	488	ENSP00000299977:L488F	ENSP00000299977:L488F	L	+	3	2	SLFN5	30615640	0.745000	0.28261	0.008000	0.14137	0.650000	0.38633	0.026000	0.13599	-0.144000	0.11314	0.533000	0.62120	TTA		0.448	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		T	33591527	A	T	33591527	3	4	104	1	0	0	0	0	1	0	0	0	14740	446	16	5	1474	5	SLFN5	17	33591527	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10	13483734	33591527	47603683	83	5602											
ITGA2B	3674	hgsc.bcm.edu	37	17	42455065	42455065	+	Splice_Site	SNP	C	C	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr17:42455065C>T	ENST00000262407.5	-	21	2219		c.e21+1		ITGA2B_ENST00000353281.4_Splice_Site	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.?(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AGCAGCCTCACCTGGGCGTTC	0.537																																																1	Unknown(1)	ovary(1)	17											76	64	68					17																	42455065		2203	4300	6503	39810591	SO:0001630	splice_region_variant	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2187+1G>A	17.37:g.42455065C>T			39810591	B2RCY8|O95366|Q14443|Q17R67	Splice_Site	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575729	0.65878	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8102	0.69989	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA2B	39810591	1.000000	0.71417	0.844000	0.33320	0.197000	0.23852	5.314000	0.65804	2.560000	0.86352	0.561000	0.74099	.		0.537	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		Intron	T	42455065	C	T	42455065	5	4	104	1	0	0	0	0	0	0	1	0	7876	521	18	2	971	2	ITGA2B	17	42455065	Splice_Site	SNP	C	TCGA-13-0900-01B-01W-0490-10	8863538	42455065	38740145	84	5603											
SGTA	6449	hgsc.bcm.edu	37	19	2762579	2762579	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr19:2762579C>G	ENST00000221566.2	-	7	722	c.561G>C	c.(559-561)gaG>gaC	p.E187D		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	187					viral process (GO:0016032)	cytoplasm (GO:0005737)		p.E187D(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGTCCAGCTCCAGAGCCT	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											138	129	132					19																	2762579		2203	4300	6503	2713579	SO:0001583	missense	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.561G>C	19.37:g.2762579C>G	ENSP00000221566:p.Glu187Asp		2713579	D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.083074	0.20309	.	.	ENSG00000104969	ENST00000221566	T	0.69685	-0.42	4.25	3.2	0.36748	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.108890	0.64402	D	0.000008	T	0.53899	0.1825	L	0.52126	1.63	0.46678	D	0.999152	B	0.02656	0.0	B	0.08055	0.003	T	0.43261	-0.9402	10	0.23891	T	0.37	-17.4186	6.1706	0.20414	0.1876:0.7155:0.0:0.0968	.	187	O43765	SGTA_HUMAN	D	187	ENSP00000221566:E187D	ENSP00000221566:E187D	E	-	3	2	SGTA	2713579	1.000000	0.71417	0.998000	0.56505	0.402000	0.30811	1.297000	0.33400	0.763000	0.33175	0.655000	0.94253	GAG		0.632	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		G	2762579	C	G	2762579	3	3	104	1	0	0	0	0	1	0	0	0	14228	796	28	3	400	3	SGTA	19	2762579	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10		2762579	56366404	85	5604											
EPS15L1	58513	hgsc.bcm.edu	37	19	16552987	16552987	+	Splice_Site	SNP	A	A	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr19:16552987A>G	ENST00000248070.6	-	2	215		c.e2+1		CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000455140.2_Splice_Site|EPS15L1_ENST00000535753.2_Splice_Site|EPS15L1_ENST00000594975.1_Splice_Site|EPS15L1_ENST00000597937.1_Splice_Site	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1						endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGCTAAACTTACCTGCTTGTA	0.428																																																1	Unknown(1)	ovary(1)	19											76	72	73					19																	16552987		2203	4300	6503	16413987	SO:0001630	splice_region_variant	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.75+1T>C	19.37:g.16552987A>G			16413987	A2RRF3|A5PL29|B4DKA3	Splice_Site	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011284	0.75046	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7524	0.69536	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS15L1	16413987	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	6.079000	0.71291	2.090000	0.63153	0.533000	0.62120	.		0.428	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	Intron	G	16552987	A	G	16552987	5	3	104	1	0	0	0	0	0	0	1	0	5193	405	14	4	2605	4	EPS15L1	19	16552987	Splice_Site	SNP	A	TCGA-13-0900-01B-01W-0490-10	13790408	16552987	42575996	86	5605											
HAUS8	93323	hgsc.bcm.edu	37	19	17169444	17169444	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr19:17169444delT	ENST00000253669.5	-	8	750	c.560delA	c.(559-561)aagfs	p.K187fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.K126fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.K186fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	187					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.K187T(1)|p.K187fs*9(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TTTCTGTAGCTTCTCCTTCTC	0.453																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|kidney(1)	19											70	64	66					19																	17169444		2203	4300	6503	17030444	SO:0001589	frameshift_variant	93323			BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"HAUS augmin-like complex subunits"	30532	protein-coding gene	gene with protein product		613434	"HEC1/NDC80 interacting, centrosome associated 1"	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.560delA	19.37:g.17169444delT	ENSP00000253669:p.Lys187fs		17030444	B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	CCDS32948.1																																																																																				0.453	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		-	17169444	T	-	17169444	7	5	104	1	0	1	0	1	0	0	0	0	6972	1609	56	0	688	0	HAUS8	19	17169444	Frame_Shift_Del	DEL	T	TCGA-13-0900-01B-01W-0490-10	616457	17169444	41959539	87	5606											
NFKBID	84807	hgsc.bcm.edu	37	19	36381371	36381371	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr19:36381371C>G	ENST00000396901.1	-	10	1201	c.628G>C	c.(628-630)Gtt>Ctt	p.V210L	NFKBID_ENST00000606253.1_Missense_Mutation_p.V210L|NFKBID_ENST00000340950.2_Missense_Mutation_p.V47L|NFKBID_ENST00000352614.2_Missense_Mutation_p.V362L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	210					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)		p.V210L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						AAGTGCAGAACTGTCTTGTTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											80	86	84					19																	36381371		2057	4183	6240	41073211	SO:0001583	missense	84807			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.628G>C	19.37:g.36381371C>G	ENSP00000380109:p.Val210Leu		41073211	Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894530	0.52121	.	.	ENSG00000167604	ENST00000352614;ENST00000396901;ENST00000340950	T;T;T	0.64438	-0.1;-0.1;-0.1	4.77	3.73	0.42828	Ankyrin repeat-containing domain (4);	0.140938	0.47455	D	0.000239	T	0.41236	0.1150	N	0.11818	0.18	0.39234	D	0.963734	B;B;B	0.32101	0.356;0.048;0.141	B;B;B	0.31686	0.104;0.134;0.041	T	0.37911	-0.9685	10	0.39692	T	0.17	-13.3233	9.8832	0.41247	0.0:0.8959:0.0:0.1041	.	362;210;47	Q8NI38-2;Q8NI38;Q8NI38-3	.;IKBD_HUMAN;.	L	362;210;47	ENSP00000252985:V362L;ENSP00000380109:V210L;ENSP00000343093:V47L	ENSP00000343093:V47L	V	-	1	0	NFKBID	41073211	0.988000	0.35896	0.291000	0.24904	0.957000	0.61999	4.942000	0.63547	0.962000	0.38057	0.462000	0.41574	GTT		0.592	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		G	36381371	C	G	36381371	3	3	104	1	0	0	0	0	1	0	0	0	10379	565	20	3	325	3	NFKBID	19	36381371	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	19211927	36381371	22747612	88	5607											
KLC3	147700	hgsc.bcm.edu	37	19	45851969	45851969	+	Missense_Mutation	SNP	C	C	T	rs372026834		TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr19:45851969C>T	ENST00000391946.2	+	6	947	c.845C>T	c.(844-846)aCg>aTg	p.T282M	KLC3_ENST00000585434.1_Missense_Mutation_p.T281M|KLC3_ENST00000470402.1_Missense_Mutation_p.T296M	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	282					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)	p.T282M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CGGGAGCAGACGCTGGGCCCT	0.652																																																1	Substitution - Missense(1)	ovary(1)	19						C	MET/THR	1,3961		0,1,1980	21	27	25		845	2.1	0.9	19		25	1,8275		0,1,4137	no	missense	KLC3	NM_177417.2	81	0,2,6117	TT,TC,CC		0.0121,0.0252,0.0163	probably-damaging	282/505	45851969	2,12236	1981	4138	6119	50543809	SO:0001583	missense	147700			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.845C>T	19.37:g.45851969C>T	ENSP00000375810:p.Thr282Met		50543809	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771772	0.69992	2.52E-4	1.21E-4	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.76316	-1.01;-1.01	3.14	2.1	0.27182	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.065041	0.64402	D	0.000015	T	0.74779	0.3761	M	0.65320	2	0.58432	D	0.999998	D;D;D	0.56746	0.971;0.971;0.977	B;B;P	0.46659	0.388;0.388;0.523	T	0.75465	-0.3308	10	0.72032	D	0.01	-13.8253	8.4861	0.33071	0.0:0.8788:0.0:0.1212	.	281;296;282	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	M	282;296	ENSP00000375810:T282M;ENSP00000436019:T296M	ENSP00000375810:T282M	T	+	2	0	KLC3	50543809	1.000000	0.71417	0.946000	0.38457	0.991000	0.79684	5.779000	0.68948	0.903000	0.36546	0.561000	0.74099	ACG		0.652	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		T	45851969	C	T	45851969	3	4	104	1	0	0	0	0	1	0	0	0	8335	536	19	1	863	1	KLC3	19	45851969	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	9470598	45851969	13277014	89	5608											
MYBPC2	4606	hgsc.bcm.edu	37	19	50961918	50961919	+	Frame_Shift_Ins	INS	-	-	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr19:50961918_50961919insC	ENST00000357701.5	+	21	2464_2465	c.2413_2414insC	c.(2413-2415)gccfs	p.A805fs		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	805	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R806fs*154(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCGACCGGAGCCAGAATCCTC	0.668																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								55653731	SO:0001589	frameshift_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2415dupC	19.37:g.50961920_50961920dupC	ENSP00000350332:p.Ala805fs		55653730	A1L4G9	Frame_Shift_Ins	INS	ENST00000357701.5	37	CCDS46152.1																																																																																				0.668	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		C	50961919	-	C	50961918	7	5	104	1	0	1	1	0	0	0	0	0	10012	971	34	0	2495	0	MYBPC2	19	50961918	Frame_Shift_Ins	INS	-	TCGA-13-0900-01B-01W-0490-10	5109949	50961918	8167065	90	5609											
ID1	3397	hgsc.bcm.edu	37	20	30193489	30193489	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr20:30193489A>G	ENST00000376112.3	+	1	404	c.299A>G	c.(298-300)gAc>gGc	p.D100G	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Missense_Mutation_p.D100G	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	100	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D100G(1)		endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CACGTCATCGACTACATCAGG	0.617																																					NSCLC(123;1618 1779 21803 28680 33854)											1	Substitution - Missense(1)	ovary(1)	20											40	41	41					20																	30193489		2202	4300	6502	29657150	SO:0001583	missense	3397				CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"Basic helix-loop-helix proteins"	5360	protein-coding gene	gene with protein product	"DNA-binding protein inhibitor ID-1"	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.299A>G	20.37:g.30193489A>G	ENSP00000365280:p.Asp100Gly		29657150	A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Missense_Mutation	SNP	ENST00000376112.3	37	CCDS13185.1	.	.	.	.	.	.	.	.	.	.	A	31	5.069411	0.93950	.	.	ENSG00000125968	ENST00000376112;ENST00000376105	D;D	0.98192	-4.78;-4.78	4.97	4.97	0.65823	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98510	0.9503	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99564	1.0969	10	0.87932	D	0	-11.7612	13.9213	0.63933	1.0:0.0:0.0:0.0	.	100;100	P41134-2;P41134	.;ID1_HUMAN	G	100	ENSP00000365280:D100G;ENSP00000365273:D100G	ENSP00000365273:D100G	D	+	2	0	ID1	29657150	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.079000	0.94032	2.209000	0.71365	0.533000	0.62120	GAC		0.617	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078550.1	NM_002165		G	30193489	A	G	30193489	3	3	104	1	0	0	0	0	1	0	0	0	7489	275	10	4	301	4	ID1	20	30193489	Missense_Mutation	SNP	A	TCGA-13-0900-01B-01W-0490-10		30193489	32832031	91	5610											
SLC2A11	66035	hgsc.bcm.edu	37	22	24217312	24217312	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr22:24217312C>A	ENST00000345044.6	+	4	558	c.290C>A	c.(289-291)tCc>tAc	p.S97Y	SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000405847.1_Missense_Mutation_p.S97Y|SLC2A11_ENST00000316185.8_Missense_Mutation_p.S100Y|AP000350.10_ENST00000433835.3_Missense_Mutation_p.S62Y|SLC2A11_ENST00000398356.2_Missense_Mutation_p.S104Y			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	97					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.S104Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						AGGAAGAAGTCCCTCCTGGTG	0.512																																																1	Substitution - Missense(1)	ovary(1)	22											80	75	77					22																	24217312		2203	4300	6503	22547312	SO:0001583	missense	66035			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.290C>A	22.37:g.24217312C>A	ENSP00000342542:p.Ser97Tyr		22547312	E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	CCDS46673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.116080|3.116080	0.56505|0.56505	.|.	.|.	ENSG00000251357|ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000133460;ENSG00000251357	ENST00000421180|ENST00000345044;ENST00000398356;ENST00000398363;ENST00000398359;ENST00000405847;ENST00000407566;ENST00000316185;ENST00000433835	.|T;T;T;T	.|0.58797	.|0.31;0.31;0.31;0.31	3.68|3.68	2.53|2.53	0.30540|0.30540	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.372260	.|0.27270	.|N	.|0.020126	T|T	0.75102|0.75102	0.3804|0.3804	M|M	0.86805|0.86805	2.84|2.84	0.36971|0.36971	D|D	0.893843|0.893843	.|D;D;D;D;D;D	.|0.69078	.|0.994;0.997;0.997;0.994;0.997;0.997	.|D;D;D;D;D;D	.|0.70227	.|0.942;0.968;0.946;0.968;0.968;0.968	T|T	0.82118|0.82118	-0.0615|-0.0615	5|10	.|0.87932	.|D	.|0	.|.	10.6016|10.6016	0.45371|0.45371	0.0:0.8015:0.1985:0.0|0.0:0.8015:0.1985:0.0	.|.	.|100;104;100;97;104;104	.|B4E2T0;E7ENI4;Q9BYW1-3;Q9BYW1;E9PH55;Q6P4C1	.|.;.;.;GTR11_HUMAN;.;.	T|Y	73|97;104;97;104;97;104;100;62	.|ENSP00000342542:S97Y;ENSP00000381399:S104Y;ENSP00000384987:S97Y;ENSP00000326748:S100Y	.|ENSP00000400325:S62Y	P|S	+|+	1|2	0|0	AP000350.10|AP000350.10;SLC2A11	22547312|22547312	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	2.213000|2.213000	0.42844|0.42844	2.034000|2.034000	0.60081|0.60081	0.508000|0.508000	0.49915|0.49915	CCC|TCC		0.512	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		A	24217312	C	A	24217312	3	1	104	1	0	0	0	0	1	0	0	0	14543	855	30	3	384	3	SLC2A11	22	24217312	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10		24217312	27087254	92	5611											
SFI1	9814	hgsc.bcm.edu	37	22	32013014	32013014	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr22:32013014G>T	ENST00000400288.2	+	31	3567	c.3462G>T	c.(3460-3462)gaG>gaT	p.E1154D	SFI1_ENST00000474741.1_Intron|SFI1_ENST00000432498.1_Missense_Mutation_p.E1123D|SFI1_ENST00000443326.1_Missense_Mutation_p.E1072D|SFI1_ENST00000400289.1_Missense_Mutation_p.E1072D|SFI1_ENST00000540643.1_Missense_Mutation_p.E1099D|SFI1_ENST00000414585.1_Missense_Mutation_p.R1000M|SFI1_ENST00000443011.1_Missense_Mutation_p.E1001D	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1154					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.E1154D(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGAACTTGAGGAGATCCAGC	0.562																																																1	Substitution - Missense(1)	ovary(1)	22											87	94	92					22																	32013014		2113	4224	6337	30343014	SO:0001583	missense	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.3462G>T	22.37:g.32013014G>T	ENSP00000383145:p.Glu1154Asp		30343014	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.566065|3.566065	0.65651|0.65651	.|.	.|.	ENSG00000198089|ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000443011;ENST00000400289;ENST00000400288|ENST00000414585	T;T;T;T;T;T|T	0.11277|0.11712	2.95;2.95;2.79;2.79;2.79;2.95|2.75	5.45|5.45	2.25|2.25	0.28309|0.28309	.|.	0.166785|.	0.41500|.	D|.	0.000861|.	T|T	0.07052|0.07052	0.0179|0.0179	N|N	0.08118|0.08118	0|0	0.21147|0.21147	N|N	0.999775|0.999775	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.998;0.999;0.999;0.987;1.0;0.996|.	D;D;D;D;P;D;D|.	0.87578|.	0.998;0.99;0.972;0.983;0.809;0.998;0.987|.	T|T	0.34502|0.34502	-0.9826|-0.9826	10|7	0.51188|0.87932	T|D	0.08|0	.|.	8.543|8.543	0.33404|0.33404	0.2406:0.0:0.7594:0.0|0.2406:0.0:0.7594:0.0	.|.	1099;1060;1001;737;1072;1123;1154|.	A8K8P3-9;A8K8P3-10;D3YTJ2;B7ZBE1;A8K8P3-3;A8K8P3-2;A8K8P3|.	.;.;.;.;.;.;SFI1_HUMAN|.	D|M	1123;1099;1072;903;1001;1072;1154|1000	ENSP00000402679:E1123D;ENSP00000443025:E1099D;ENSP00000416469:E1072D;ENSP00000401199:E1001D;ENSP00000383146:E1072D;ENSP00000383145:E1154D|ENSP00000397148:R1000M	ENSP00000383145:E1154D|ENSP00000397148:R1000M	E|R	+|+	3|2	2|0	SFI1|SFI1	30343014|30343014	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.682000|0.682000	0.39822|0.39822	1.167000|1.167000	0.31847|0.31847	1.313000|1.313000	0.45069|0.45069	0.563000|0.563000	0.77884|0.77884	GAG|AGG		0.562	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		T	32013014	G	T	32013014	3	4	104	1	0	0	0	0	1	0	0	0	14159	991	35	3	3580	3	SFI1	22	32013014	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	7795702	32013014	19291552	93	5612											
SMC1B	27127	hgsc.bcm.edu	37	22	45748333	45748333	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chr22:45748333G>C	ENST00000357450.4	-	22	3422	c.3423C>G	c.(3421-3423)caC>caG	p.H1141Q	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1141	Ala/Asp-rich (DA-box).				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.H1143Q(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GACCTTACCTGTGCACAGCAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	22											74	73	74					22																	45748333		1908	4110	6018	44126997	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3423C>G	22.37:g.45748333G>C	ENSP00000350036:p.His1141Gln		44126997	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031895	0.75504	.	.	ENSG00000077935	ENST00000357450	T	0.65549	-0.16	6.17	1.52	0.23074	.	0.090318	0.48767	D	0.000179	T	0.64349	0.2590	L	0.59912	1.85	0.80722	D	1	D	0.57257	0.979	P	0.54026	0.74	T	0.65038	-0.6265	10	0.56958	D	0.05	.	8.4322	0.32764	0.1878:0.111:0.7013:0.0	.	1141	Q8NDV3-3	.	Q	1141	ENSP00000350036:H1141Q	ENSP00000350036:H1141Q	H	-	3	2	SMC1B	44126997	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.612000	0.61169	0.948000	0.37687	0.655000	0.94253	CAC		0.443	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		C	45748333	G	C	45748333	3	2	104	1	0	0	0	0	1	0	0	0	14785	1368	48	3	300	3	SMC1B	22	45748333	Missense_Mutation	SNP	G	TCGA-13-0900-01B-01W-0490-10	13735319	45748333	5556233	94	5613											
NHS	4810	hgsc.bcm.edu	37	X	17743957	17743957	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chrX:17743957T>G	ENST00000380060.3	+	6	2006	c.1668T>G	c.(1666-1668)agT>agG	p.S556R	NHS_ENST00000398097.3_Missense_Mutation_p.S400R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	577					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.S556R(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACAAATTAAGTGAGAGGGGAA	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											70	58	62					X																	17743957		2203	4300	6503	17653878	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1668T>G	X.37:g.17743957T>G	ENSP00000369400:p.Ser556Arg		17653878	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	T	4.701	0.130297	0.08981	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.48201	0.82;0.82	5.86	0.939	0.19506	.	0.552403	0.23805	N	0.044398	T	0.36441	0.0967	L	0.52573	1.65	0.31169	N	0.703477	B;B;B;B	0.26258	0.145;0.045;0.145;0.145	B;B;B;B	0.26202	0.045;0.024;0.045;0.067	T	0.34004	-0.9846	10	0.20519	T	0.43	-0.1183	8.8354	0.35109	0.0:0.2917:0.0:0.7083	.	577;398;400;556	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	R	556;400;398	ENSP00000369400:S556R;ENSP00000381170:S400R	ENSP00000369397:S398R	S	+	3	2	NHS	17653878	0.848000	0.29623	0.823000	0.32752	0.831000	0.47069	0.100000	0.15231	0.036000	0.15547	0.486000	0.48141	AGT		0.572	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		G	17743957	T	G	17743957	3	3	104	1	0	0	0	0	1	0	0	0	10411	1693	59	5	1795	5	NHS	23	17743957	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10		17743957	137526603	95	5614											
FAM47B	170062	hgsc.bcm.edu	37	X	34962068	34962068	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chrX:34962068C>A	ENST00000329357.5	+	1	1156	c.1120C>A	c.(1120-1122)Ctc>Atc	p.L374I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	374								p.L374I(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						AACCGAGGAACTCACCAAGCC	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											46	44	44					X																	34962068		2202	4300	6502	34871989	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.1120C>A	X.37:g.34962068C>A	ENSP00000328307:p.Leu374Ile		34871989	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	7.148	0.583135	0.13749	.	.	ENSG00000189132	ENST00000329357	T	0.13657	2.57	0.719	-0.292	0.12839	.	.	.	.	.	T	0.09335	0.0230	L	0.38175	1.15	0.09310	N	1	P	0.39424	0.673	B	0.37144	0.242	T	0.24693	-1.0153	8	0.38643	T	0.18	.	.	.	.	.	374	Q8NA70	FA47B_HUMAN	I	374	ENSP00000328307:L374I	ENSP00000328307:L374I	L	+	1	0	FAM47B	34871989	0.002000	0.14202	0.014000	0.15608	0.006000	0.05464	0.128000	0.15810	-0.195000	0.10382	-0.488000	0.04728	CTC		0.537	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		A	34962068	C	A	34962068	3	1	104	1	0	0	0	0	1	0	0	0	5570	565	20	3	1122	3	FAM47B	23	34962068	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	17218111	34962068	120308492	96	5615											
TAF1	6872	hgsc.bcm.edu	37	X	70679490	70679490	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chrX:70679490T>G	ENST00000373790.4	+	36	5201	c.5150T>G	c.(5149-5151)cTt>cGt	p.L1717R	TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000423759.1_Missense_Mutation_p.L1740R|TAF1_ENST00000449580.1_Missense_Mutation_p.L1751R|TAF1_ENST00000276072.3_Missense_Mutation_p.L1738R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1717	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.L1717R(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGGATTTGCTTATGTCTGAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	X											233	175	195					X																	70679490		2203	4300	6503	70596215	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5150T>G	X.37:g.70679490T>G	ENSP00000362895:p.Leu1717Arg		70596215	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.05|19.05	3.751279|3.751279	0.69533|0.69533	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072|ENST00000437147	T;T;T;T|T	0.11385|0.29142	2.91;2.78;2.95;2.91|1.58	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.34048|0.34048	0.0884|0.0884	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;D|.	0.76494|.	0.999;0.997;0.995;0.997|.	D;D;D;D|.	0.85130|.	0.997;0.994;0.986;0.994|.	T|T	0.05402|0.05402	-1.0887|-1.0887	10|8	0.25751|0.28530	T|T	0.34|0.3	.|.	13.8026|13.8026	0.63212|0.63212	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	407;1751;1717;1738|.	A5CVC9;P21675-4;P21675;P21675-2|.	.;.;TAF1_HUMAN;.|.	R|V	1717;1751;1740;459;1738|406	ENSP00000362895:L1717R;ENSP00000389000:L1751R;ENSP00000406549:L1740R;ENSP00000276072:L1738R|ENSP00000406517:L406V	ENSP00000276072:L1738R|ENSP00000406517:L406V	L|L	+|+	2|1	0|2	TAF1|TAF1	70596215|70596215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.278000|7.278000	0.78587|0.78587	1.832000|1.832000	0.53329|0.53329	0.430000|0.430000	0.28490|0.28490	CTT|TTA		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		G	70679490	T	G	70679490	3	3	104	1	0	0	0	0	1	0	0	0	15513	1609	56	5	5355	5	TAF1	23	70679490	Missense_Mutation	SNP	T	TCGA-13-0900-01B-01W-0490-10	35717422	70679490	84591070	97	5616											
NXF3	56000	hgsc.bcm.edu	37	X	102338570	102338570	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0900-01B-01W-0490-10	TCGA-13-0900-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	0d36bcdc-91c8-43f4-ba4a-29f890054f31	13bb514e-753a-43ac-9abb-f5df53bf08a1	g.chrX:102338570C>G	ENST00000395065.3	-	4	503	c.402G>C	c.(400-402)caG>caC	p.Q134H	NXF3_ENST00000425463.2_Missense_Mutation_p.Q45H|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	134	RRM.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.Q134H(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCATTCATTCTGAATCAAAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	X											133	122	126					X																	102338570		2203	4300	6503	102225226	SO:0001583	missense	56000			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.402G>C	X.37:g.102338570C>G	ENSP00000378504:p.Gln134His		102225226	B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.925|8.925	0.962058|0.962058	0.18583|0.18583	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	.|T;T	.|0.55413	.|0.52;0.52	3.78|3.78	2.9|2.9	0.33743|0.33743	.|Nuclear RNA export factor Tap, RNA-binding domain (2);Nucleotide-binding, alpha-beta plait (1);	.|0.058286	.|0.64402	.|D	.|0.000001	T|T	0.61426|0.61426	0.2346|0.2346	M|M	0.68952|0.68952	2.095|2.095	0.37795|0.37795	D|D	0.927492|0.927492	.|D;B	.|0.76494	.|0.999;0.155	.|D;P	.|0.66084	.|0.941;0.461	T|T	0.61691|0.61691	-0.7011|-0.7011	5|10	.|0.17832	.|T	.|0.49	-1.6863|-1.6863	7.7249|7.7249	0.28755|0.28755	0.2497:0.7503:0.0:0.0|0.2497:0.7503:0.0:0.0	.|.	.|134;134	.|B4DYI1;Q9H4D5	.|.;NXF3_HUMAN	Q|H	11|134;45	.|ENSP00000378504:Q134H;ENSP00000404347:Q45H	.|ENSP00000378504:Q134H	E|Q	-|-	1|3	0|2	NXF3|NXF3	102225226|102225226	1.000000|1.000000	0.71417|0.71417	0.049000|0.049000	0.19019|0.19019	0.001000|0.001000	0.01503|0.01503	3.305000|3.305000	0.51873|0.51873	0.952000|0.952000	0.37798|0.37798	-0.224000|-0.224000	0.12420|0.12420	GAA|CAG		0.458	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		G	102338570	C	G	102338570	3	3	104	1	0	0	0	0	1	0	0	0	10785	912	32	3	1257	3	NXF3	23	102338570	Missense_Mutation	SNP	C	TCGA-13-0900-01B-01W-0490-10	31659080	102338570	52931990	98	5617											
MTUS2	23281	hgsc.bcm.edu	37	13	29600871	29600871	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0901-01B-01W-0490-10	TCGA-13-0901-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4757ed90-2f16-4525-b114-138fdeb51296	716a625a-ca45-4080-95d7-9b8826abaf34	g.chr13:29600871C>A	ENST00000431530.3	+	1	2124	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	679	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.P689H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATGCCTCTTCCCCACGAAGAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	13											52	55	54					13																	29600871		1963	4137	6100	28498871	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2066C>A	13.37:g.29600871C>A	ENSP00000392057:p.Pro689His		28498871	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.140675	0.37825	.	.	ENSG00000132938	ENST00000431530	T	0.16743	2.32	6.17	5.33	0.75918	.	0.227351	0.31123	N	0.008208	T	0.37128	0.0992	M	0.62723	1.935	0.58432	D	0.999996	D	0.76494	0.999	D	0.65874	0.939	T	0.07271	-1.0781	9	.	.	.	.	14.5326	0.67936	0.0:0.9307:0.0:0.0693	.	679	Q5JR59	MTUS2_HUMAN	H	689	ENSP00000392057:P689H	.	P	+	2	0	MTUS2	28498871	0.442000	0.25633	0.412000	0.26496	0.009000	0.06853	3.963000	0.56773	1.627000	0.50400	0.655000	0.94253	CCC		0.587	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		A	29600871	C	A	29600871	3	1	105	1	0	0	0	0	1	0	0	0	9966	623	22	3	2068	3	MTUS2	13	29600871	Missense_Mutation	SNP	C	TCGA-13-0901-01B-01W-0490-10		29600871	85569007	1	5618											
MYO16	23026	hgsc.bcm.edu	37	13	109459144	109459144	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0901-01B-01W-0490-10	TCGA-13-0901-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4757ed90-2f16-4525-b114-138fdeb51296	716a625a-ca45-4080-95d7-9b8826abaf34	g.chr13:109459144T>C	ENST00000357550.2	+	6	834	c.793T>C	c.(793-795)Tat>Cat	p.Y265H	MYO16_ENST00000251041.5_Missense_Mutation_p.Y265H|MYO16_ENST00000356711.2_Missense_Mutation_p.Y265H	NM_001198950.1	NP_001185879.1			myosin XVI									p.Y265H(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGCAGCCAAATATGGCCAGGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	13											101	93	96					13																	109459144		2203	4300	6503	108257145	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.793T>C	13.37:g.109459144T>C	ENSP00000350160:p.Tyr265His		108257145		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454683	0.43634	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.63913	-0.07;-0.07;-0.07	5.05	5.05	0.67936	Ankyrin repeat-containing domain (4);	0.000000	0.37053	U	0.002262	T	0.63757	0.2538	N	0.16478	0.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63024	-0.6729	9	.	.	.	.	12.7781	0.57461	0.0:0.0:0.0:1.0	.	265;265	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	H	265;265;265;265;53	ENSP00000349145:Y265H;ENSP00000350160:Y265H;ENSP00000251041:Y265H	.	Y	+	1	0	MYO16	108257145	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	6.758000	0.74929	1.888000	0.54679	0.533000	0.62120	TAT		0.358	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		C	109459144	T	C	109459144	3	2	105	1	0	0	0	0	1	0	0	0	10064	1406	49	4	815	4	MYO16	13	109459144	Missense_Mutation	SNP	T	TCGA-13-0901-01B-01W-0490-10	79858273	109459144	5710734	2	5619											
ABCC11	85320	hgsc.bcm.edu	37	16	48247431	48247431	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0901-01B-01W-0490-10	TCGA-13-0901-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4757ed90-2f16-4525-b114-138fdeb51296	716a625a-ca45-4080-95d7-9b8826abaf34	g.chr16:48247431G>A	ENST00000394747.1	-	9	1628	c.1279C>T	c.(1279-1281)Ctt>Ttt	p.L427F	ABCC11_ENST00000394748.1_Missense_Mutation_p.L427F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L427F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L427F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L427F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	427	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.L427F(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GACAGCCGAAGGAGATTCAAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	16											115	92	100					16																	48247431		2201	4300	6501	46804932	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1279C>T	16.37:g.48247431G>A	ENSP00000378230:p.Leu427Phe		46804932	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914197	0.52546	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	4.25	-4.13	0.03904	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.350112	0.25094	N	0.033194	D	0.89822	0.6826	M	0.65498	2.005	0.09310	N	1	D;D	0.64830	0.979;0.994	P;P	0.62184	0.816;0.899	T	0.80460	-0.1373	10	0.87932	D	0	-1.6962	0.6086	0.00757	0.2224:0.1369:0.2355:0.4052	.	427;427	Q96J66-2;Q96J66	.;ABCCB_HUMAN	F	427	ENSP00000311326:L427F;ENSP00000349017:L427F;ENSP00000378231:L427F;ENSP00000378230:L427F;ENSP00000438530:L427F	ENSP00000311326:L427F	L	-	1	0	ABCC11	46804932	0.000000	0.05858	0.010000	0.14722	0.077000	0.17291	-0.771000	0.04699	-0.603000	0.05767	0.655000	0.94253	CTT		0.552	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48247431	G	A	48247431	3	1	105	1	0	0	0	0	1	0	0	0	51	1000	35	2	2953	2	ABCC11	16	48247431	Missense_Mutation	SNP	G	TCGA-13-0901-01B-01W-0490-10		48247431	42107322	3	5620											
MECR	51102	genome.wustl.edu	37	1	29522725	29522725	+	Silent	SNP	G	G	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr1:29522725G>A	ENST00000263702.6	-	8	901	c.876C>T	c.(874-876)ccC>ccT	p.P292P	MECR_ENST00000373791.3_Silent_p.P216P			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	292					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)	p.P292P(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		AGGCTACGACGGGCTGCTTGG	0.597																																																1	Substitution - coding silent(1)	ovary(1)	1											61	58	59					1																	29522725		2203	4300	6503	29395312	SO:0001819	synonymous_variant	51102				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.876C>T	1.37:g.29522725G>A			29395312	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722162	0.30503	.	.	ENSG00000116353	ENST00000373792;ENST00000453185	.	.	.	5.18	-5.13	0.02884	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61569	-0.7036	5	0.87932	D	0	.	5.4374	0.16488	0.5502:0.0:0.2158:0.234	.	.	.	.	C	253;180	.	ENSP00000362897:R253C	R	-	1	0	MECR	29395312	0.000000	0.05858	0.662000	0.29724	0.946000	0.59487	-2.516000	0.00954	-0.703000	0.05049	0.561000	0.74099	CGT		0.597	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		A	29522725	G	A	29522725	2	1	106	1	0	0	0	0	0	0	0	1	9424	1103	39	1		1	MECR	1	29522725	Silent	SNP	G	TCGA-13-0903-01A-01W-0421-09		29522725	219727896	1	5621											
ROR1	4919	genome.wustl.edu	37	1	64603116	64603116	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	A	G	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr1:64603116G>A	ENST00000371079.1	+	5	922	c.547G>A	c.(547-549)Ggc>Agc	p.G183S	ROR1_ENST00000371080.1_Missense_Mutation_p.G183S|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	183	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.G183S(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AAGATTTATTGGCAACCGCAC	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											159	152	154					1																	64603116		2203	4300	6503	64375704	SO:0001583	missense	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.547G>A	1.37:g.64603116G>A	ENSP00000360120:p.Gly183Ser		64375704	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429452	0.96131	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.53857	0.6;0.6	6.07	6.07	0.98685	Frizzled domain (2);	0.000000	0.43747	D	0.000532	T	0.55737	0.1939	L	0.45228	1.405	0.80722	D	1	P;D	0.63046	0.73;0.992	P;P	0.62184	0.644;0.899	T	0.53627	-0.8412	10	0.49607	T	0.09	.	16.0651	0.80865	0.0:0.1332:0.8668:0.0	.	183;183	Q01973;Q66K77	ROR1_HUMAN;.	S	183;183;186	ENSP00000360121:G183S;ENSP00000360120:G183S	ENSP00000360120:G183S	G	+	1	0	ROR1	64375704	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.851000	0.86920	2.885000	0.99019	0.655000	0.94253	GGC		0.413	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		A	64603116	G	A	64603116	3	1	106	1	0	0	0	0	1	0	0	0	13529	1348	47	2	565	2	ROR1	1	64603116	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	35080391	64603116	184647505	2	5622											
MSH4	4438	genome.wustl.edu	37	1	76355052	76355052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr1:76355052G>T	ENST00000263187.3	+	16	2328	c.2224G>T	c.(2224-2226)Gag>Tag	p.E742*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	742					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.E742*(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAAATGAAAGAGGTACCCAA	0.259								Mismatch excision repair (MMR)																																								1	Substitution - Nonsense(1)	ovary(1)	1											49	57	55					1																	76355052		2188	4254	6442	76127640	SO:0001587	stop_gained	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2224G>T	1.37:g.76355052G>T	ENSP00000263187:p.Glu742*		76127640	Q5T4U6|Q8NEB3|Q9UNP8	Nonsense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	40	8.296275	0.98747	.	.	ENSG00000057468	ENST00000263187	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.0364	18.9808	0.92755	0.0:0.0:1.0:0.0	.	.	.	.	X	742	.	ENSP00000263187:E742X	E	+	1	0	MSH4	76127640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.495000	0.84180	0.650000	0.86243	GAG		0.259	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		T	76355052	G	T	76355052	4	4	106	1	0	0	0	0	0	1	0	0	9872	943	33	3	2286	3	MSH4	1	76355052	Nonsense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	11751936	76355052	172895569	3	5623											
FCRL3	115352	genome.wustl.edu	37	1	157648557	157648557	+	Silent	SNP	T	T	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr1:157648557T>C	ENST00000368184.3	-	15	2439	c.2148A>G	c.(2146-2148)gaA>gaG	p.E716E	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.E716E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	716						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E716E(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTTCATCATCTTCTTCATGGG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	1											162	139	147					1																	157648557		2203	4300	6503	155915181	SO:0001819	synonymous_variant	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2148A>G	1.37:g.157648557T>C			155915181	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	CCDS1167.1																																																																																				0.502	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		C	157648557	T	C	157648557	2	2	106	1	0	0	0	0	0	0	0	1	5796	1606	56	4		4	FCRL3	1	157648557	Silent	SNP	T	TCGA-13-0903-01A-01W-0421-09	81293505	157648557	91602064	4	5624											
PAPPA2	60676	genome.wustl.edu	37	1	176668547	176668547	+	Missense_Mutation	SNP	G	G	T	rs201517784		TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr1:176668547G>T	ENST00000367662.3	+	8	4222	c.3058G>T	c.(3058-3060)Gtg>Ttg	p.V1020L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1020					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1020L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTGTCGGGGGTGAAAGTCTA	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		19502	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											139	145	143					1																	176668547		2109	4238	6347	174935170	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3058G>T	1.37:g.176668547G>T	ENSP00000356634:p.Val1020Leu		174935170	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.99	1.804680	0.31961	.	.	ENSG00000116183	ENST00000367662	T	0.42131	0.98	5.38	4.47	0.54385	Fibronectin, type III (2);	0.320145	0.33875	N	0.004479	T	0.42966	0.1226	M	0.70275	2.135	0.58432	D	0.999993	B	0.29188	0.236	B	0.29176	0.099	T	0.46748	-0.9169	10	0.72032	D	0.01	-7.2083	11.1339	0.48362	0.1492:0.0:0.8508:0.0	.	1020	Q9BXP8	PAPP2_HUMAN	L	1020	ENSP00000356634:V1020L	ENSP00000356634:V1020L	V	+	1	0	PAPPA2	174935170	1.000000	0.71417	0.973000	0.42090	0.730000	0.41778	2.530000	0.45641	1.503000	0.48686	0.655000	0.94253	GTG		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176668547	G	T	176668547	3	4	106	1	0	0	0	0	1	0	0	0	11433	1261	44	3	3137	3	PAPPA2	1	176668547	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	19019990	176668547	72582074	5	5625											
LYST	1130	genome.wustl.edu	37	1	235969927	235969927	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr1:235969927G>A	ENST00000389794.3	-	6	2683	c.2509C>T	c.(2509-2511)Cca>Tca	p.P837S	LYST_ENST00000536965.1_Missense_Mutation_p.P837S|LYST_ENST00000389793.2_Missense_Mutation_p.P837S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	837					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.P837S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAATATCTGGAACTGAGGCA	0.388																																																1	Substitution - Missense(1)	ovary(1)	1											223	214	217					1																	235969927		2203	4300	6503	234036550	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2509C>T	1.37:g.235969927G>A	ENSP00000374444:p.Pro837Ser		234036550	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	9.538	1.112634	0.20795	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.61510	0.1;0.1;1.26	5.48	3.57	0.40892	.	0.407398	0.28140	N	0.016444	T	0.37839	0.1018	L	0.33485	1.01	0.24115	N	0.99583	B;B	0.18013	0.025;0.012	B;B	0.18871	0.023;0.021	T	0.27806	-1.0063	10	0.05833	T	0.94	.	7.3156	0.26499	0.1483:0.1394:0.7122:0.0	.	837;837	Q99698-3;Q99698	.;LYST_HUMAN	S	837	ENSP00000374444:P837S;ENSP00000374443:P837S;ENSP00000438315:P837S	ENSP00000374443:P837S	P	-	1	0	LYST	234036550	0.983000	0.35010	0.005000	0.12908	0.940000	0.58332	1.964000	0.40462	0.662000	0.31006	0.655000	0.94253	CCA		0.388	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235969927	G	A	235969927	3	1	106	1	0	0	0	0	1	0	0	0	9128	1174	41	2	9088	2	LYST	1	235969927	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	59301380	235969927	13280694	6	5626											
RYR2	6262	genome.wustl.edu	37	1	237936860	237936860	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr1:237936860A>T	ENST00000366574.2	+	87	12004	c.11687A>T	c.(11686-11688)gAt>gTt	p.D3896V	RYR2_ENST00000542537.1_Missense_Mutation_p.D3880V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.D3902V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3896					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.D3894V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGGGAAAGATGTTATTGAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											113	107	109					1																	237936860		1829	4079	5908	236003483	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11687A>T	1.37:g.237936860A>T	ENSP00000355533:p.Asp3896Val		236003483	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287871	0.80803	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97089	-4.24;-4.21;-4.24	5.13	5.13	0.70059	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000008	D	0.97879	0.9303	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.978	D	0.98917	1.0782	10	0.87932	D	0	-15.6106	15.2625	0.73634	1.0:0.0:0.0:0.0	.	870;3896	B4DGV4;Q92736	.;RYR2_HUMAN	V	3896;3902;3880;870	ENSP00000355533:D3896V;ENSP00000353174:D3902V;ENSP00000443798:D3880V	ENSP00000353174:D3902V	D	+	2	0	RYR2	236003483	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.319000	0.79040	2.057000	0.61298	0.523000	0.50628	GAT		0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237936860	A	T	237936860	3	4	106	1	0	0	0	0	1	0	0	0	13772	333	12	5	12033	5	RYR2	1	237936860	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09	1966933	237936860	11313761	7	5627											
OR2T34	127068	genome.wustl.edu	37	1	248737881	248737881	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr1:248737881G>T	ENST00000328782.2	-	1	199	c.178C>A	c.(178-180)Ctc>Atc	p.L60I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L60I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGGTGTGGAGGCGGGGCTCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											16	20	19					1																	248737881		2094	4233	6327	246804504	SO:0001583	missense	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.178C>A	1.37:g.248737881G>T	ENSP00000330904:p.Leu60Ile		246804504	B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.698397	0.88830	.	.	ENSG00000183310	ENST00000328782	T	0.13778	2.56	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.47655	0.1457	H	0.95539	3.685	0.28231	N	0.926118	D	0.89917	1.0	D	0.91635	0.999	T	0.47983	-0.9074	9	0.87932	D	0	.	11.5824	0.50900	0.0:0.0:1.0:0.0	.	60	Q8NGX1	O2T34_HUMAN	I	60	ENSP00000330904:L60I	ENSP00000330904:L60I	L	-	1	0	OR2T34	246804504	1.000000	0.71417	0.194000	0.23346	0.842000	0.47809	4.308000	0.59129	1.159000	0.42565	0.395000	0.25975	CTC		0.572	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		T	248737881	G	T	248737881	3	4	106	1	0	0	0	0	1	0	0	0	11025	1000	35	3	782	3	OR2T34	1	248737881	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	10801021	248737881	512740	8	5628											
ATAD2B	54454	genome.wustl.edu	37	2	24092546	24092546	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr2:24092546T>C	ENST00000238789.5	-	9	1406	c.1063A>G	c.(1063-1065)Aga>Gga	p.R355G		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	355						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.R355G(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTTGCTCTTGCCATGCTC	0.318																																																1	Substitution - Missense(1)	ovary(1)	2											126	103	110					2																	24092546		1828	4081	5909	23946050	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1063A>G	2.37:g.24092546T>C	ENSP00000238789:p.Arg355Gly		23946050	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.838171	0.71373	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	D;T	0.92699	-3.09;0.05	5.3	4.07	0.47477	.	.	.	.	.	D	0.92391	0.7585	L	0.42245	1.32	0.43377	D	0.995475	D;P	0.65815	0.995;0.895	P;P	0.61800	0.894;0.652	D	0.90134	0.4208	9	0.25106	T	0.35	.	12.8662	0.57941	0.0:0.0:0.1349:0.865	.	369;355	C9JG15;Q9ULI0	.;ATD2B_HUMAN	G	355;207;369	ENSP00000238789:R355G;ENSP00000403177:R369G	ENSP00000238789:R355G	R	-	1	2	ATAD2B	23946050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.087000	0.50167	2.145000	0.66743	0.454000	0.30748	AGA		0.318	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		C	24092546	T	C	24092546	3	2	106	1	0	0	0	0	1	0	0	0	1072	1617	56	4	3393	4	ATAD2B	2	24092546	Missense_Mutation	SNP	T	TCGA-13-0903-01A-01W-0421-09		24092546	219106827	9	5629											
MFSD2B	388931	genome.wustl.edu	37	2	24239080	24239080	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr2:24239080G>T	ENST00000406420.3	+	3	293	c.277G>T	c.(277-279)Gct>Tct	p.A93S	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A93S	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	93					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A93S(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GTCTGGGGCGGCTGCTGACCC	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											48	52	51					2																	24239080		1921	4118	6039	24092584	SO:0001583	missense	388931				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.277G>T	2.37:g.24239080G>T	ENSP00000385527:p.Ala93Ser		24092584	B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604613	0.87157	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.87571	-2.27;-2.27	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);	0.231774	0.34750	U	0.003714	D	0.83755	0.5323	L	0.36672	1.1	0.26112	N	0.980679	P	0.37276	0.589	B	0.43018	0.405	T	0.79366	-0.1833	10	0.72032	D	0.01	-6.9471	10.5369	0.45009	0.0884:0.0:0.9116:0.0	.	93	A6NFX1	MFS2B_HUMAN	S	93	ENSP00000385527:A93S;ENSP00000342501:A93S	ENSP00000342501:A93S	A	+	1	0	MFSD2B	24092584	0.062000	0.20869	1.000000	0.80357	0.976000	0.68499	1.115000	0.31209	2.721000	0.93114	0.511000	0.50034	GCT		0.597	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		T	24239080	G	T	24239080	3	4	106	1	0	0	0	0	1	0	0	0	9531	1203	42	3	287	3	MFSD2B	2	24239080	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	146534	24239080	218960293	10	5630											
XDH	7498	genome.wustl.edu	37	2	31571183	31571183	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr2:31571183G>C	ENST00000379416.3	-	28	3146	c.3098C>G	c.(3097-3099)aCc>aGc	p.T1033S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1033					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.T1033S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCCCCCGTGGGTCAGCAGCAC	0.507																																					Colon(66;682 1445 30109 40147)											1	Substitution - Missense(1)	ovary(1)	2											74	68	70					2																	31571183		2203	4300	6503	31424687	SO:0001583	missense	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3098C>G	2.37:g.31571183G>C	ENSP00000368727:p.Thr1033Ser		31424687	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740006	0.30865	.	.	ENSG00000158125	ENST00000379416	T	0.35789	1.29	5.85	3.1	0.35709	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.088877	0.85682	N	0.000000	T	0.23492	0.0568	L	0.28776	0.89	0.54753	D	0.999987	B	0.17852	0.024	B	0.28638	0.092	T	0.05068	-1.0908	10	0.11182	T	0.66	.	7.6222	0.28191	0.0662:0.1261:0.6856:0.1221	.	1033	P47989	XDH_HUMAN	S	1033	ENSP00000368727:T1033S	ENSP00000368727:T1033S	T	-	2	0	XDH	31424687	1.000000	0.71417	0.980000	0.43619	0.947000	0.59692	5.701000	0.68325	0.385000	0.24970	0.655000	0.94253	ACC		0.507	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		C	31571183	G	C	31571183	3	2	106	1	0	0	0	0	1	0	0	0	17426	1261	44	3	939	3	XDH	2	31571183	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	7332103	31571183	211628190	11	5631											
KCMF1	56888	genome.wustl.edu	37	2	85273306	85273306	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr2:85273306C>T	ENST00000409785.4	+	5	865	c.506C>T	c.(505-507)tCa>tTa	p.S169L		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	169							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S169L(1)		ovary(3)	3						GCTCGTAGATCAAACATGCAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											108	99	102					2																	85273306		1886	4102	5988	85126817	SO:0001583	missense	56888			AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.506C>T	2.37:g.85273306C>T	ENSP00000386738:p.Ser169Leu		85126817	Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804620	0.90623	.	.	ENSG00000176407	ENST00000409785;ENST00000453448	T	0.48522	0.81	5.83	5.83	0.93111	Drought induced 19/ RING finger protein 114 (1);	0.056188	0.64402	D	0.000002	T	0.46268	0.1384	L	0.39245	1.2	0.54753	D	0.999982	B	0.25169	0.119	B	0.33846	0.171	T	0.28839	-1.0031	10	0.34782	T	0.22	-12.235	17.6156	0.88066	0.0:1.0:0.0:0.0	.	169	Q9P0J7	KCMF1_HUMAN	L	169;118	ENSP00000386738:S169L	ENSP00000386738:S169L	S	+	2	0	KCMF1	85126817	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.789000	0.85783	2.763000	0.94921	0.561000	0.74099	TCA		0.443	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		T	85273306	C	T	85273306	3	4	106	1	0	0	0	0	1	0	0	0	8000	838	29	2	524	2	KCMF1	2	85273306	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09	53702123	85273306	157926067	12	5632											
EVX2	344191	genome.wustl.edu	37	2	176947137	176947137	+	Silent	SNP	C	C	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr2:176947137C>A	ENST00000308618.4	-	2	604	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	156					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S156S(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCCCGACGCCGACGTCGTGG	0.711																																																1	Substitution - coding silent(1)	ovary(1)	2											18	20	19					2																	176947137		2014	4024	6038	176655383	SO:0001819	synonymous_variant	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.468G>T	2.37:g.176947137C>A			176655383		Silent	SNP	ENST00000308618.4	37	CCDS33333.1																																																																																				0.711	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			A	176947137	C	A	176947137	2	1	106	1	0	0	0	0	0	0	0	1	5295	639	23	3		3	EVX2	2	176947137	Silent	SNP	C	TCGA-13-0903-01A-01W-0421-09	91673831	176947137	66252236	13	5633											
PGAP1	80055	genome.wustl.edu	37	2	197757953	197757953	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr2:197757953T>C	ENST00000354764.4	-	8	1058	c.944A>G	c.(943-945)aAg>aGg	p.K315R	PGAP1_ENST00000409475.1_Missense_Mutation_p.K315R|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.K273R	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	315					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.K315R(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CAGTTTCTTCTTGGAATTTTG	0.318																																																1	Substitution - Missense(1)	ovary(1)	2											103	106	105					2																	197757953		2203	4299	6502	197466198	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.944A>G	2.37:g.197757953T>C	ENSP00000346809:p.Lys315Arg		197466198	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978575	0.53720	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000409188;ENST00000374738	.	.	.	4.9	4.9	0.64082	.	0.195026	0.48767	D	0.000172	T	0.48909	0.1526	N	0.19112	0.55	0.34103	D	0.66204	P;P;D	0.63880	0.483;0.775;0.993	B;B;D	0.70935	0.084;0.306;0.971	T	0.53704	-0.8401	9	0.16420	T	0.52	-9.6702	12.3993	0.55404	0.0:0.0:0.0:1.0	.	273;315;315	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	R	95;315;315;273;95	.	ENSP00000346809:K315R	K	-	2	0	PGAP1	197466198	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.221000	0.51215	2.064000	0.61679	0.460000	0.39030	AAG		0.318	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		C	197757953	T	C	197757953	3	2	106	1	0	0	0	0	1	0	0	0	11777	1609	56	4	1904	4	PGAP1	2	197757953	Missense_Mutation	SNP	T	TCGA-13-0903-01A-01W-0421-09	20810816	197757953	45441420	14	5634											
ANKRD44	91526	genome.wustl.edu	37	2	197866488	197866488	+	Silent	SNP	C	C	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr2:197866488C>T	ENST00000328737.2	-	22	2425	c.2349G>A	c.(2347-2349)ctG>ctA	p.L783L	ANKRD44_ENST00000282272.8_Silent_p.L800L|ANKRD44_ENST00000337207.5_Silent_p.L783L|ANKRD44_ENST00000450567.1_Silent_p.L783L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	808								p.L783L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGCACAGTGCAGTGGAGTAA	0.318																																																1	Substitution - coding silent(1)	ovary(1)	2											104	104	104					2																	197866488		2203	4300	6503	197574733	SO:0001819	synonymous_variant	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2349G>A	2.37:g.197866488C>T			197574733	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37																																																																																					0.318	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		T	197866488	C	T	197866488	2	4	106	1	0	0	0	0	0	0	0	1	672	697	25	2		2	ANKRD44	2	197866488	Silent	SNP	C	TCGA-13-0903-01A-01W-0421-09	108535	197866488	45332885	15	5635											
STK11IP	114790	genome.wustl.edu	37	2	220466798	220466798	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr2:220466798C>T	ENST00000456909.1	+	5	521	c.431C>T	c.(430-432)gCa>gTa	p.A144V	STK11IP_ENST00000295641.10_Missense_Mutation_p.A155V|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	155					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.A144V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCTCCAGGCATTAGAGGTA	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											26	25	26					2																	220466798		1986	4156	6142	220175042	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.431C>T	2.37:g.220466798C>T	ENSP00000389383:p.Ala144Val		220175042	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	C	25.6	4.653151	0.88056	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05447	3.44;3.44	4.93	4.93	0.64822	.	0.629307	0.16429	N	0.214808	T	0.16471	0.0396	L	0.47716	1.5	0.27675	N	0.946637	B;P;P;D	0.69078	0.101;0.932;0.775;0.997	B;P;B;P	0.61397	0.098;0.472;0.273;0.888	T	0.01496	-1.1340	10	0.56958	D	0.05	-1.1989	13.6658	0.62393	0.0:0.8449:0.155:0.0	.	155;155;155;155	B4DUE4;B4DII2;Q8N1F8-2;Q8N1F8	.;.;.;S11IP_HUMAN	V	144;155;155	ENSP00000389383:A144V;ENSP00000295641:A155V	ENSP00000295641:A155V	A	+	2	0	STK11IP	220175042	0.997000	0.39634	0.994000	0.49952	0.847000	0.48162	3.846000	0.55888	2.549000	0.85964	0.655000	0.94253	GCA		0.572	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220466798	C	T	220466798	3	4	106	1	0	0	0	0	1	0	0	0	15290	710	25	2	482	2	STK11IP	2	220466798	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09	22600310	220466798	22732575	16	5636											
CHL1	10752	genome.wustl.edu	37	3	443318	443318	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr3:443318A>T	ENST00000256509.2	+	27	4037	c.3395A>T	c.(3394-3396)aAg>aTg	p.K1132M	CHL1_ENST00000397491.2_Missense_Mutation_p.K1116M	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.K1132M(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTTAAAGAAAAGGAAGATTTG	0.313																																																1	Substitution - Missense(1)	ovary(1)	3											65	69	68					3																	443318		2203	4297	6500	418318	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3395A>T	3.37:g.443318A>T	ENSP00000256509:p.Lys1132Met		418318	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.97|19.97	3.926008|3.926008	0.73327|0.73327	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	D;D|.	0.89681|.	-2.55;-2.55|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80292|0.80292	0.4596|0.4596	M|M	0.88450|0.88450	2.955|2.955	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	D|D	0.83927|0.83927	0.0304|0.0304	10|5	0.87932|.	D|.	0|.	.|.	15.0817|15.0817	0.72119|0.72119	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1116;1132|.	O00533;O00533-2|.	CHL1_HUMAN;.|.	M|W	1132;1116|266	ENSP00000256509:K1132M;ENSP00000380628:K1116M|.	ENSP00000256509:K1132M|.	K|R	+|+	2|1	0|2	CHL1|CHL1	418318|418318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.766000|0.766000	0.43426|0.43426	8.233000|8.233000	0.89799|0.89799	1.960000|1.960000	0.56953|0.56953	0.482000|0.482000	0.46254|0.46254	AAG|AGG		0.313	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		T	443318	A	T	443318	3	4	106	1	0	0	0	0	1	0	0	0	3349	72	3	5	3493	5	CHL1	3	443318	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09		443318	197579112	17	5637											
SATB1	6304	genome.wustl.edu	37	3	18436359	18436359	+	Silent	SNP	G	G	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr3:18436359G>C	ENST00000338745.6	-	7	2535	c.801C>G	c.(799-801)gtC>gtG	p.V267V	SATB1_ENST00000454909.2_Silent_p.V267V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.V267V|SATB1_ENST00000475083.1_5'Flank	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	267	Nuclear matrix targeting sequence (NMTS).				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V267V(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGCCAAAATTGACATGATTGG	0.517																																																1	Substitution - coding silent(1)	ovary(1)	3											75	66	69					3																	18436359		2203	4300	6503	18411363	SO:0001819	synonymous_variant	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.801C>G	3.37:g.18436359G>C			18411363	B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	CCDS2631.1																																																																																				0.517	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		C	18436359	G	C	18436359	2	2	106	1	0	0	0	0	0	0	0	1	13856	1277	45	3		3	SATB1	3	18436359	Silent	SNP	G	TCGA-13-0903-01A-01W-0421-09	17993041	18436359	179586071	18	5638											
ABI3BP	25890	genome.wustl.edu	37	3	100605041	100605041	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr3:100605041G>C	ENST00000284322.5	-	5	718	c.609C>G	c.(607-609)gaC>gaG	p.D203E	ABI3BP_ENST00000471714.1_Missense_Mutation_p.D203E|ABI3BP_ENST00000495063.1_Missense_Mutation_p.D203E	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	203	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.D203E(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTCCACATTGTCTTTCACTC	0.338																																																1	Substitution - Missense(1)	ovary(1)	3											129	117	121					3																	100605041		1827	4085	5912	102087731	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.609C>G	3.37:g.100605041G>C	ENSP00000284322:p.Asp203Glu		102087731	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662223	0.67700	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258;ENST00000530539	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;2.43	5.71	1.4	0.22301	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.148779	0.64402	D	0.000013	T	0.53610	0.1807	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.994	T	0.51028	-0.8757	10	0.56958	D	0.05	-12.2852	10.2654	0.43452	0.3653:0.0:0.6347:0.0	.	196;203;203	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	E	203;203;203;122;143	ENSP00000420524:D203E;ENSP00000284322:D203E;ENSP00000433993:D203E;ENSP00000435319:D122E;ENSP00000436918:D143E	ENSP00000284322:D203E	D	-	3	2	ABI3BP	102087731	1.000000	0.71417	0.961000	0.40146	0.989000	0.77384	1.608000	0.36847	0.350000	0.24002	0.555000	0.69702	GAC		0.338	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			C	100605041	G	C	100605041	3	2	106	1	0	0	0	0	1	0	0	0	91	1368	48	3	2742	3	ABI3BP	3	100605041	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	82168682	100605041	97417389	19	5639											
KIAA1407	57577	genome.wustl.edu	37	3	113753853	113753853	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr3:113753853T>A	ENST00000295878.3	-	6	883	c.737A>T	c.(736-738)gAa>gTa	p.E246V	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E77V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	246								p.E246V(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AATCTCCTCTTCCTCTTTCTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											199	191	194					3																	113753853		2203	4300	6503	115236543	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.737A>T	3.37:g.113753853T>A	ENSP00000295878:p.Glu246Val		115236543	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.080493	0.55753	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.65178	0.43;-0.14;-0.09	5.72	3.33	0.38152	.	0.108912	0.64402	D	0.000007	T	0.62380	0.2423	M	0.65498	2.005	0.80722	D	1	P;P;P	0.40515	0.719;0.51;0.719	B;B;B	0.44085	0.44;0.241;0.44	T	0.62001	-0.6946	10	0.87932	D	0	.	8.5741	0.33587	0.0:0.0672:0.1309:0.8019	.	233;122;246	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	V	246;77;233	ENSP00000295878:E246V;ENSP00000446381:E77V;ENSP00000418099:E233V	ENSP00000295878:E246V	E	-	2	0	KIAA1407	115236543	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	4.140000	0.58031	0.436000	0.26393	-0.299000	0.09455	GAA		0.478	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		A	113753853	T	A	113753853	3	1	106	1	0	0	0	0	1	0	0	0	8229	1783	62	5	2121	5	KIAA1407	3	113753853	Missense_Mutation	SNP	T	TCGA-13-0903-01A-01W-0421-09	13148812	113753853	84268577	20	5640											
GOLGB1	2804	genome.wustl.edu	37	3	121409831	121409831	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr3:121409831C>T	ENST00000340645.5	-	14	8490	c.8365G>A	c.(8365-8367)Gcc>Acc	p.A2789T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A2794T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2789					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A2789T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTGAAAAGGCGGTTTCAGAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											117	108	111					3																	121409831		2203	4300	6503	122892521	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8365G>A	3.37:g.121409831C>T	ENSP00000341848:p.Ala2789Thr		122892521	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869484	0.00547	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15834	2.39;2.39	5.3	-7.44	0.01379	.	1.036540	0.07611	N	0.925375	T	0.09598	0.0236	L	0.41027	1.25	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.36138	-0.9760	10	0.13108	T	0.6	.	5.1782	0.15146	0.3579:0.2669:0.0:0.3752	.	2794;2794;2789	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	T	2789;2794	ENSP00000341848:A2789T;ENSP00000377275:A2794T	ENSP00000341848:A2789T	A	-	1	0	GOLGB1	122892521	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.783000	0.04638	-2.029000	0.00930	-3.295000	0.00046	GCC		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		T	121409831	C	T	121409831	3	4	106	1	0	0	0	0	1	0	0	0	6565	768	27	1	1450	1	GOLGB1	3	121409831	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09	7655978	121409831	76612599	21	5641											
MME	4311	genome.wustl.edu	37	3	154834718	154834718	+	Silent	SNP	C	C	G			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr3:154834718C>G	ENST00000460393.1	+	7	717	c.597C>G	c.(595-597)gtC>gtG	p.V199V	MME_ENST00000462745.1_Silent_p.V199V|MME_ENST00000492661.1_Silent_p.V199V|MME_ENST00000493237.1_Silent_p.V199V|MME_ENST00000360490.2_Silent_p.V199V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	199					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.V199V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GGAAAAAAGTCCTTATTAATT	0.289																																																1	Substitution - coding silent(1)	ovary(1)	3											58	61	60					3																	154834718		2202	4296	6498	156317412	SO:0001819	synonymous_variant	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.597C>G	3.37:g.154834718C>G			156317412	A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																				0.289	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		G	154834718	C	G	154834718	2	3	106	1	0	0	0	0	0	0	0	1	9645	842	30	3		3	MME	3	154834718	Silent	SNP	C	TCGA-13-0903-01A-01W-0421-09	33424887	154834718	43187712	22	5642											
PCDHA3	56145	genome.wustl.edu	37	5	140181418	140181418	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr5:140181418A>G	ENST00000522353.2	+	1	636	c.636A>G	c.(634-636)atA>atG	p.I212M	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.I212M|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.I212M(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTACTAATAACAGCAATTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											59	62	61					5																	140181418		2203	4300	6503	140161602	SO:0001583	missense	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.636A>G	5.37:g.140181418A>G	ENSP00000429808:p.Ile212Met		140161602	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	a	12.47	1.949088	0.34377	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.26373	1.74;1.74	4.86	-0.73	0.11154	Cadherin (4);Cadherin-like (1);	0.180194	0.25575	U	0.029738	T	0.26085	0.0636	M	0.65498	2.005	0.21473	N	0.999675	P;P	0.52842	0.956;0.892	P;P	0.49597	0.55;0.616	T	0.20840	-1.0263	10	0.87932	D	0	.	0.2045	0.00149	0.2512:0.2725:0.2109:0.2655	.	212;212	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	212	ENSP00000429808:I212M;ENSP00000434086:I212M	ENSP00000429808:I212M	I	+	3	3	PCDHA3	140161602	0.000000	0.05858	0.011000	0.14972	0.910000	0.53928	-4.656000	0.00202	-0.040000	0.13580	0.383000	0.25322	ATA		0.403	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		G	140181418	A	G	140181418	3	3	106	1	0	0	0	0	1	0	0	0	11525	352	13	4	638	4	PCDHA3	5	140181418	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09		140181418	40733842	23	5643											
HDAC3	8841	genome.wustl.edu	37	5	141009426	141009426	+	Splice_Site	SNP	C	C	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr5:141009426C>A	ENST00000305264.3	-	5	500		c.e5+1			NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3						cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.?(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCCTCACTCACCTCAAACTTC	0.517																																																1	Unknown(1)	ovary(1)	5											123	103	110					5																	141009426		2203	4300	6503	140989610	SO:0001630	splice_region_variant	8841			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.420+1G>T	5.37:g.141009426C>A			140989610	D3DQE1|O43268|Q9UEI5|Q9UEV0	Splice_Site	SNP	ENST00000305264.3	37	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533654	0.64972	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4739	0.94976	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HDAC3	140989610	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.605000	0.82844	2.708000	0.92522	0.650000	0.86243	.		0.517	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883	Intron	A	141009426	C	A	141009426	5	1	106	1	0	0	0	0	0	0	1	0	7008	521	18	3	909	3	HDAC3	5	141009426	Splice_Site	SNP	C	TCGA-13-0903-01A-01W-0421-09	828008	141009426	39905834	24	5644											
NOTCH4	4855	genome.wustl.edu	37	6	32188798	32188798	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr6:32188798C>T	ENST00000375023.3	-	4	894	c.756G>A	c.(754-756)atG>atA	p.M252I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	252	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.M252I(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTTTCTCTGGCATCAGCTGGC	0.657																																																1	Substitution - Missense(1)	ovary(1)	6											82	69	74					6																	32188798		1511	2709	4220	32296776	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.756G>A	6.37:g.32188798C>T	ENSP00000364163:p.Met252Ile		32296776	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	5.899	0.349925	0.11182	.	.	ENSG00000204301	ENST00000375023	T	0.09163	3.01	4.74	-0.0803	0.13707	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.611312	0.13453	N	0.386756	T	0.01092	0.0036	N	0.01779	-0.725	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.19666	0.026;0.005	T	0.42783	-0.9431	10	0.22109	T	0.4	.	5.8924	0.18921	0.4623:0.2882:0.2495:0.0	.	252;252	Q6P3V5;Q99466	.;NOTC4_HUMAN	I	252	ENSP00000364163:M252I	ENSP00000364163:M252I	M	-	3	0	NOTCH4	32296776	0.014000	0.17966	0.978000	0.43139	0.464000	0.32679	-0.038000	0.12144	0.125000	0.18397	0.491000	0.48974	ATG		0.657	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32188798	C	T	32188798	3	4	106	1	0	0	0	0	1	0	0	0	10551	710	25	2	5363	2	NOTCH4	6	32188798	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09		32188798	138926269	25	5645											
CPVL	54504	genome.wustl.edu	37	7	29111387	29111387	+	Splice_Site	SNP	A	A	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr7:29111387A>C	ENST00000409850.1	-	13	1511		c.e13+1		CPVL_ENST00000265394.5_Splice_Site|CPVL_ENST00000396276.3_Splice_Site			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like							extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.?(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CCCAGAACTCACTTCAAAGGC	0.488																																																1	Unknown(1)	ovary(1)	7											96	87	90					7																	29111387		2203	4300	6503	29077912	SO:0001630	splice_region_variant	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.864+1T>G	7.37:g.29111387A>C			29077912	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Splice_Site	SNP	ENST00000409850.1	37	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809409	0.70797	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000432534;ENST00000455893;ENST00000409850;ENST00000542995;ENST00000448959	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.851	0.70297	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPVL	29077912	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.339000	0.90041	2.150000	0.67090	0.482000	0.46254	.		0.488	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	Intron	C	29111387	A	C	29111387	5	2	106	1	0	0	0	0	0	0	1	0	3835	173	6	5	584	5	CPVL	7	29111387	Splice_Site	SNP	A	TCGA-13-0903-01A-01W-0421-09		29111387	130027276	26	5646											
UNC5D	137970	genome.wustl.edu	37	8	35544091	35544091	+	Silent	SNP	A	A	G			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr8:35544091A>G	ENST00000404895.2	+	7	1276	c.948A>G	c.(946-948)gaA>gaG	p.E316E	UNC5D_ENST00000420357.1_Silent_p.E260E|UNC5D_ENST00000416672.1_Silent_p.E316E|UNC5D_ENST00000453357.2_Silent_p.E311E|UNC5D_ENST00000287272.2_Silent_p.E260E	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	316	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E311E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGTGGAGCGAATGGTCCGTCT	0.527																																																1	Substitution - coding silent(1)	ovary(1)	8											127	113	118					8																	35544091		2203	4300	6503	35663633	SO:0001819	synonymous_variant	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.948A>G	8.37:g.35544091A>G			35663633	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																				0.527	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			G	35544091	A	G	35544091	2	3	106	1	0	0	0	0	0	0	0	1	16995	98	4	4		4	UNC5D	8	35544091	Silent	SNP	A	TCGA-13-0903-01A-01W-0421-09		35544091	110819931	27	5647											
FKBP15	23307	genome.wustl.edu	37	9	115931598	115931598	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr9:115931598A>T	ENST00000238256.3	-	26	3508	c.3391T>A	c.(3391-3393)Tcc>Acc	p.S1131T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1131					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.S1156T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGACCGGTGGAGCTAGTGACA	0.597																																																1	Substitution - Missense(1)	ovary(1)	9											76	79	78					9																	115931598		2096	4209	6305	114971419	SO:0001583	missense	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3391T>A	9.37:g.115931598A>T	ENSP00000238256:p.Ser1131Thr		114971419	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	A	8.283	0.815929	0.16607	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.22539	1.95;1.96	4.46	-0.798	0.10905	.	.	.	.	.	T	0.12008	0.0292	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.30238	-0.9985	9	0.39692	T	0.17	-0.08	3.7413	0.08532	0.3524:0.0:0.1118:0.5358	.	712;1131	B4DVS2;Q5T1M5	.;FKB15_HUMAN	T	1156;1131	ENSP00000416158:S1156T;ENSP00000238256:S1131T	ENSP00000238256:S1131T	S	-	1	0	FKBP15	114971419	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.334000	0.19787	0.052000	0.16007	0.482000	0.46254	TCC		0.597	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		T	115931598	A	T	115931598	3	4	106	1	0	0	0	0	1	0	0	0	5905	304	11	5	280	5	FKBP15	9	115931598	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09		115931598	25281833	28	5648											
RC3H2	54542	genome.wustl.edu	37	9	125622280	125622280	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr9:125622280A>G	ENST00000373670.1	-	10	2365	c.1765T>C	c.(1765-1767)Tat>Cat	p.Y589H	RC3H2_ENST00000357244.2_Missense_Mutation_p.Y589H|RC3H2_ENST00000423239.2_Missense_Mutation_p.Y589H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	589	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y589H(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGCGGAGGATATACTGGTACT	0.433																																																1	Substitution - Missense(1)	ovary(1)	9											215	213	213					9																	125622280		1845	4097	5942	124662101	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1765T>C	9.37:g.125622280A>G	ENSP00000362774:p.Tyr589His		124662101	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486768	0.84854	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.48522	0.81;0.81;0.83	5.87	5.87	0.94306	.	0.065139	0.64402	D	0.000006	T	0.56514	0.1990	L	0.29908	0.895	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.75484	0.969;0.986	T	0.55792	-0.8085	10	0.42905	T	0.14	-8.9463	14.3157	0.66450	1.0:0.0:0.0:0.0	.	589;589	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	H	589;589;460;589	ENSP00000362774:Y589H;ENSP00000349783:Y589H;ENSP00000411767:Y589H	ENSP00000349783:Y589H	Y	-	1	0	RC3H2	124662101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.076000	0.71267	2.371000	0.80710	0.533000	0.62120	TAT		0.433	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		G	125622280	A	G	125622280	3	3	106	1	0	0	0	0	1	0	0	0	13170	449	16	4	1932	4	RC3H2	9	125622280	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09	9690682	125622280	15591151	29	5649											
ABO	28	genome.wustl.edu	37	9	136135222	136135222	+	RNA	SNP	C	C	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr9:136135222C>T	ENST00000453660.2	-	0	215							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGACATTATACCTTGGCAACG	0.527																																																0			9											109	105	106					9																	136135222		2121	4231	6352	135125043			28			AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136135222C>T			135125043	B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Splice_Site	SNP	ENST00000453660.2	37																																																																																					0.527	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		T	136135222	C	T	136135222	1	4	106	0	1	0	0	0	0	0	0	0	97	521	18	2		2	ABO	9	136135222	RNA	SNP	C	TCGA-13-0903-01A-01W-0421-09	10512942	136135222	5078209	30	5650											
FAM21B	387680	genome.wustl.edu	37	10	47911108	47911108	+	Splice_Site	SNP	G	G	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr10:47911108G>C	ENST00000358474.5	+	12	976	c.976G>C	c.(976-978)Gga>Cga	p.G326R		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		326					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.G326R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TGTATTTTTAGGTAACATAAC	0.358																																																1	Substitution - Missense(1)	ovary(1)	10											2	2	2					10																	47911108		651	2025	2676	47431114	SO:0001630	splice_region_variant	55747																														ENST00000358474.5:c.976+1G>C	10.37:g.47911108G>C			47431114		Missense_Mutation	SNP	ENST00000358474.5	37	CCDS44379.1	.	.	.	.	.	.	.	.	.	.	.	9.487	1.099624	0.20552	.	.	ENSG00000152726	ENST00000358474;ENST00000535219;ENST00000355876	.	.	.	2.3	2.3	0.28687	.	0.098275	0.64402	D	0.000001	T	0.71091	0.3299	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.72625	0.978;0.963	T	0.72769	-0.4193	9	0.72032	D	0.01	-8.182	8.1604	0.31196	0.0:0.0:1.0:0.0	.	326;414	Q5SNT6;B7ZME8	FA21B_HUMAN;.	R	326;163;317	.	ENSP00000348138:G317R	G	+	1	0	FAM21B	47431114	1.000000	0.71417	0.993000	0.49108	0.458000	0.32498	5.848000	0.69458	1.299000	0.44798	0.152000	0.16155	GGA		0.358	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2		Missense_Mutation	C	47911108	G	C	47911108	5	2	106	1	0	0	0	0	0	0	1	0	5541	1014	35	3	1022	3	FAM21B	10	47911108	Splice_Site	SNP	G	TCGA-13-0903-01A-01W-0421-09		47911108	87623639	31	5651											
STK33	65975	genome.wustl.edu	37	11	8414132	8414132	+	Silent	SNP	C	C	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr11:8414132C>T	ENST00000447869.1	-	12	2388	c.1470G>A	c.(1468-1470)gtG>gtA	p.V490V	STK33_ENST00000396672.1_Silent_p.V490V|STK33_ENST00000534493.1_Silent_p.V449V|STK33_ENST00000358872.3_Silent_p.V303V|STK33_ENST00000396673.1_Silent_p.V424V|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Silent_p.V490V			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	490					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V490V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GGCTTGGAGTCACAGGGGTTT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	11											208	195	199					11																	8414132		2201	4296	6497	8370708	SO:0001819	synonymous_variant	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1470G>A	11.37:g.8414132C>T			8370708	Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	CCDS7789.1																																																																																				0.473	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		T	8414132	C	T	8414132	2	4	106	1	0	0	0	0	0	0	0	1	15302	813	29	2		2	STK33	11	8414132	Silent	SNP	C	TCGA-13-0903-01A-01W-0421-09		8414132	126592384	32	5652											
CCDC88B	283234	genome.wustl.edu	37	11	64111502	64111502	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr11:64111502G>C	ENST00000356786.5	+	14	1533	c.1489G>C	c.(1489-1491)Gtt>Ctt	p.V497L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	497						membrane (GO:0016020)		p.V497L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGGACCCTGTTCTTCCAGT	0.662																																																1	Substitution - Missense(1)	ovary(1)	11											33	34	34					11																	64111502		2200	4297	6497	63868078	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1489G>C	11.37:g.64111502G>C	ENSP00000349238:p.Val497Leu		63868078	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	N	6.626	0.483853	0.12581	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23552	1.9	3.82	-7.65	0.01281	.	.	.	.	.	T	0.10078	0.0247	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.27400	-1.0075	9	0.37606	T	0.19	.	4.2579	0.10726	0.1989:0.1409:0.521:0.1392	.	497;146;497	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	L	497	ENSP00000349238:V497L	ENSP00000349238:V497L	V	+	1	0	CCDC88B	63868078	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.243000	0.08915	-1.551000	0.01706	-0.696000	0.03686	GTT		0.662	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		C	64111502	G	C	64111502	3	2	106	1	0	0	0	0	1	0	0	0	2864	1377	48	3	1543	3	CCDC88B	11	64111502	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	55697370	64111502	70895014	33	5653											
MMP8	4317	genome.wustl.edu	37	11	102587063	102587063	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr11:102587063A>G	ENST00000236826.3	-	6	970	c.872T>C	c.(871-873)cTc>cCc	p.L291P		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	291					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.L291P(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TTCTCCACGGAGTGTGGTGAT	0.378																																																1	Substitution - Missense(1)	ovary(1)	11											119	123	122					11																	102587063		2203	4299	6502	102092273	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.872T>C	11.37:g.102587063A>G	ENSP00000236826:p.Leu291Pro		102092273	Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918433	0.73098	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942	T	0.02974	4.09	5.03	5.03	0.67393	Hemopexin/matrixin (2);	0.139843	0.33005	N	0.005383	T	0.17152	0.0412	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;0.998	T	0.00367	-1.1785	10	0.87932	D	0	.	12.2782	0.54749	1.0:0.0:0.0:0.0	.	291;226;291	A8K9E4;F5GXB5;P22894	.;.;MMP8_HUMAN	P	291;268;226	ENSP00000236826:L291P	ENSP00000236826:L291P	L	-	2	0	MMP8	102092273	0.975000	0.34042	0.990000	0.47175	0.983000	0.72400	8.402000	0.90205	1.885000	0.54596	0.460000	0.39030	CTC		0.378	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		G	102587063	A	G	102587063	3	3	106	1	0	0	0	0	1	0	0	0	9668	304	11	4	551	4	MMP8	11	102587063	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09	38475561	102587063	32419453	34	5654											
FDXACB1	91893	genome.wustl.edu	37	11	111746390	111746390	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr11:111746390A>T	ENST00000260257.4	-	5	1178	c.1131T>A	c.(1129-1131)ttT>ttA	p.F377L	ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.F228L	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	377					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.F377L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GGCACTTCTGAAAGACAGGTC	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											192	186	188					11																	111746390		1948	4160	6108	111251600	SO:0001583	missense	91893				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1131T>A	11.37:g.111746390A>T	ENSP00000260257:p.Phe377Leu		111251600	A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842759	0.71488	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.37235	1.21;1.21;1.21	6.17	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.70275	2.135	0.58432	D	0.99999	D	0.76494	0.999	D	0.80764	0.994	T	0.56854	-0.7910	10	0.66056	D	0.02	.	9.3276	0.38001	0.7864:0.0:0.2136:0.0	.	377	Q9BRP7	FDXA1_HUMAN	L	377;228;288	ENSP00000260257:F377L;ENSP00000441304:F228L;ENSP00000435572:F288L	ENSP00000260257:F377L	F	-	3	2	FDXACB1	111251600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.831000	0.39141	2.371000	0.80710	0.533000	0.62120	TTT		0.438	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		T	111746390	A	T	111746390	3	4	106	1	0	0	0	0	1	0	0	0	5806	243	9	5	747	5	FDXACB1	11	111746390	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09	9159327	111746390	23260126	35	5655											
SLCO1C1	53919	genome.wustl.edu	37	12	20890148	20890149	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	CA	CA	CA	AG	CA	CA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr12:20890148_20890149CA>AG	ENST00000266509.2	+	11	1858_1859	c.1490_1491CA>AG	c.(1489-1491)aCA>aAG	p.T497K	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.T448K|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.T497K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.T497K|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.T379K	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	497	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AATGGAATCACATATGTATCAG	0.411																																																0			12																																								20781416	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	Exception_encountered	12.37:g.20890148_20890149delinsAG	ENSP00000266509:p.Thr497Lys		20781415	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	DNP	ENST00000266509.2	37	CCDS8683.1																																																																																				0.411	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		AG	20890149	CA	AG	20890148	3	1	106	1	0	0	0	0	1	0	0	0	14728	478	17	3	1528	3	SLCO1C1	12	20890148	Missense_Mutation	DNP	CA	TCGA-13-0903-01A-01W-0421-09		20890148	112961747	36	5656											
TBK1	29110	genome.wustl.edu	37	12	64889316	64889316	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr12:64889316A>T	ENST00000331710.5	+	14	1914	c.1575A>T	c.(1573-1575)agA>agT	p.R525S		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	525					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R525S(1)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TCGACAGCAGATTATCTCCAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											152	146	148					12																	64889316		2203	4300	6503	63175583	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1575A>T	12.37:g.64889316A>T	ENSP00000329967:p.Arg525Ser		63175583	A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	A	1.013	-0.687252	0.03328	.	.	ENSG00000183735	ENST00000331710	T	0.67698	-0.28	4.64	-2.14	0.07123	.	0.251769	0.44902	D	0.000420	T	0.35828	0.0945	N	0.08118	0	0.22401	N	0.999135	B	0.09022	0.002	B	0.09377	0.004	T	0.18147	-1.0346	9	.	.	.	-1.8332	6.7944	0.23717	0.5611:0.1191:0.3199:0.0	.	525	Q9UHD2	TBK1_HUMAN	S	525	ENSP00000329967:R525S	.	R	+	3	2	TBK1	63175583	0.994000	0.37717	0.011000	0.14972	0.038000	0.13279	0.511000	0.22739	-0.471000	0.06891	-0.460000	0.05396	AGA		0.438	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		T	64889316	A	T	64889316	3	4	106	1	0	0	0	0	1	0	0	0	15637	330	12	5	1625	5	TBK1	12	64889316	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09	43999168	64889316	68962579	37	5657											
ACACB	32	genome.wustl.edu	37	12	109660684	109660684	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr12:109660684G>T	ENST00000338432.7	+	26	3878	c.3759G>T	c.(3757-3759)atG>atT	p.M1253I	ACACB_ENST00000377848.3_Missense_Mutation_p.M1253I|ACACB_ENST00000377854.5_Missense_Mutation_p.M1183I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1253					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.M1253I(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCATTGACATGTACGGCCACC	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											91	65	74					12																	109660684		2203	4300	6503	108145067	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3759G>T	12.37:g.109660684G>T	ENSP00000341044:p.Met1253Ile		108145067	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322187	0.41096	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.41065	1.01;1.01;1.01	5.07	4.17	0.49024	Acetyl-CoA carboxylase, central domain (1);	0.125647	0.64402	D	0.000001	T	0.37128	0.0992	L	0.53249	1.67	0.80722	D	1	B	0.12013	0.005	B	0.15870	0.014	T	0.14392	-1.0474	10	0.22706	T	0.39	.	13.2796	0.60207	0.0767:0.0:0.9233:0.0	.	1253	O00763	ACACB_HUMAN	I	1253;1253;1183;484	ENSP00000341044:M1253I;ENSP00000367079:M1253I;ENSP00000367085:M1183I	ENSP00000341044:M1253I	M	+	3	0	ACACB	108145067	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.963000	0.87922	2.525000	0.85131	0.650000	0.86243	ATG		0.612	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109660684	G	T	109660684	3	4	106	1	0	0	0	0	1	0	0	0	107	1377	48	3	3857	3	ACACB	12	109660684	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	44771368	109660684	24191211	38	5658											
OR4L1	122742	genome.wustl.edu	37	14	20529108	20529108	+	Missense_Mutation	SNP	G	G	T	rs144249994	byFrequency	TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr14:20529108G>T	ENST00000315683.1	+	1	905	c.905G>T	c.(904-906)cGg>cTg	p.R302L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAAAATTACGGTTCCAATAT	0.303																																																1	Substitution - Missense(1)	ovary(1)	14											51	57	55					14																	20529108		2203	4298	6501	19598948	SO:0001583	missense	122742				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.905G>T	14.37:g.20529108G>T	ENSP00000319217:p.Arg302Leu		19598948	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	0.958	-0.704240	0.03255	.	.	ENSG00000176246	ENST00000315683	T	0.26660	1.72	4.37	-8.75	0.00834	.	2.575630	0.01495	N	0.017262	T	0.05640	0.0148	N	0.00427	-1.505	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.26155	-1.0111	10	0.11485	T	0.65	.	7.2034	0.25893	0.5851:0.0:0.1268:0.2881	.	302	Q8NH43	OR4L1_HUMAN	L	302	ENSP00000319217:R302L	ENSP00000319217:R302L	R	+	2	0	OR4L1	19598948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.435000	0.02423	-2.238000	0.00712	-2.498000	0.00192	CGG		0.303	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			T	20529108	G	T	20529108	3	4	106	1	0	0	0	0	1	0	0	0	11074	1116	39	3	907	3	OR4L1	14	20529108	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09		20529108	86820432	39	5659											
SLC35F4	341880	genome.wustl.edu	37	14	58063464	58063464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr14:58063464G>T	ENST00000339762.6	-	1	151	c.152C>A	c.(151-153)tCa>tAa	p.S51*	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_Intron			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	51					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.S51*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACACCAGTGATTTATCTTC	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	14											150	149	149					14																	58063464		1921	4143	6064	57133217	SO:0001587	stop_gained	341880					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.152C>A	14.37:g.58063464G>T	ENSP00000342518:p.Ser51*		57133217	A6NDQ3	Nonsense_Mutation	SNP	ENST00000339762.6	37		.	.	.	.	.	.	.	.	.	.	G	15.27	2.784596	0.49997	.	.	ENSG00000151812	ENST00000339762	.	.	.	4.04	-4.7	0.03288	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7438	0.02958	0.4671:0.1336:0.2646:0.1347	.	.	.	.	X	51	.	ENSP00000342518:S51X	S	-	2	0	SLC35F4	57133217	0.002000	0.14202	0.000000	0.03702	0.214000	0.24535	-0.382000	0.07408	-1.033000	0.03299	0.650000	0.86243	TCA		0.403	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		T	58063464	G	T	58063464	4	4	106	1	0	0	0	0	0	1	0	0	14594	1294	45	3	1445	3	SLC35F4	14	58063464	Nonsense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	37534356	58063464	49286076	40	5660											
FOS	2353	genome.wustl.edu	37	14	75747717	75747717	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr14:75747717A>C	ENST00000303562.4	+	4	942	c.733A>C	c.(733-735)Aat>Cat	p.N245H	FOS_ENST00000555686.1_Missense_Mutation_p.N131H|FOS_ENST00000535987.1_Missense_Mutation_p.N209H|FOS_ENST00000555347.1_Missense_Mutation_p.N97H	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	245					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N245H(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	GCCTCTCCTCAATGACCCTGA	0.582																																																1	Substitution - Missense(1)	ovary(1)	14											72	72	72					14																	75747717		2203	4300	6503	74817470	SO:0001583	missense	2353			K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.733A>C	14.37:g.75747717A>C	ENSP00000306245:p.Asn245His		74817470	A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	A	1.166	-0.642303	0.03531	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555672;ENST00000555347	T;T;T	0.64618	0.47;0.9;-0.11	4.96	3.76	0.43208	.	1.407340	0.04142	N	0.319814	T	0.53867	0.1823	L	0.29908	0.895	0.09310	N	1	P;B	0.36837	0.571;0.437	B;B	0.38755	0.281;0.201	T	0.44050	-0.9353	10	0.22109	T	0.4	-9.5848	9.9237	0.41478	0.7855:0.2145:0.0:0.0	.	209;245	B4DQ65;P01100	.;FOS_HUMAN	H	245;209;131;95;97	ENSP00000306245:N245H;ENSP00000442268:N209H;ENSP00000452590:N131H	ENSP00000306245:N245H	N	+	1	0	FOS	74817470	0.000000	0.05858	0.876000	0.34364	0.297000	0.27493	0.558000	0.23469	1.991000	0.58162	0.460000	0.39030	AAT		0.582	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		C	75747717	A	C	75747717	3	2	106	1	0	0	0	0	1	0	0	0	5985	130	5	5	747	5	FOS	14	75747717	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09	17684253	75747717	31601823	41	5661											
MYO5A	4644	genome.wustl.edu	37	15	52718156	52718156	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr15:52718156G>C	ENST00000399231.3	-	4	569	c.326C>G	c.(325-327)gCt>gGt	p.A109G	MYO5A_ENST00000399233.2_Missense_Mutation_p.A109G|MYO5A_ENST00000356338.6_Missense_Mutation_p.A109G|MYO5A_ENST00000553916.1_Missense_Mutation_p.A109G|MYO5A_ENST00000358212.6_Missense_Mutation_p.A109G	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	109	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.A109G(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGGATTTATAGCTACTAGGAC	0.383																																																1	Substitution - Missense(1)	ovary(1)	15											72	66	68					15																	52718156		1841	4095	5936	50505448	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.326C>G	15.37:g.52718156G>C	ENSP00000382177:p.Ala109Gly		50505448	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292490	0.95546	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	6.05	6.05	0.98169	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	0.987;1.0	D;D	0.83275	0.957;0.996	D	0.97764	1.0222	10	0.56958	D	0.05	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	109;109	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	G	109	ENSP00000382177:A109G;ENSP00000382179:A109G;ENSP00000348693:A109G;ENSP00000350945:A109G;ENSP00000451109:A109G	ENSP00000348693:A109G	A	-	2	0	MYO5A	50505448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	GCT		0.383	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		C	52718156	G	C	52718156	3	2	106	1	0	0	0	0	1	0	0	0	10078	971	34	3	5393	3	MYO5A	15	52718156	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09		52718156	49813236	42	5662											
ZNF592	9640	genome.wustl.edu	37	15	85343119	85343119	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr15:85343119G>C	ENST00000560079.2	+	10	3472	c.3184G>C	c.(3184-3186)Gag>Cag	p.E1062Q	ZNF592_ENST00000299927.3_Missense_Mutation_p.E1062Q	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1062					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E1062Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCCCTTCTGGAGAGCCACAT	0.597																																																1	Substitution - Missense(1)	ovary(1)	15											101	96	98					15																	85343119		2203	4299	6502	83144123	SO:0001583	missense	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3184G>C	15.37:g.85343119G>C	ENSP00000452877:p.Glu1062Gln		83144123	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426112	0.83667	.	.	ENSG00000166716	ENST00000299927	T	0.52057	0.68	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);	0.050554	0.85682	D	0.000000	T	0.44582	0.1300	N	0.04686	-0.185	0.33736	D	0.618789	D	0.60575	0.988	P	0.58721	0.844	T	0.59495	-0.7444	10	0.45353	T	0.12	-30.473	16.944	0.86226	0.0:0.0:1.0:0.0	.	1062	Q92610	ZN592_HUMAN	Q	1062	ENSP00000299927:E1062Q	ENSP00000299927:E1062Q	E	+	1	0	ZNF592	83144123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.958000	0.70330	2.589000	0.87451	0.563000	0.77884	GAG		0.597	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		C	85343119	G	C	85343119	3	2	106	1	0	0	0	0	1	0	0	0	18022	1175	41	3	3210	3	ZNF592	15	85343119	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	32624963	85343119	17188273	43	5663											
IQGAP1	8826	genome.wustl.edu	37	15	91019971	91019971	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr15:91019971A>G	ENST00000268182.5	+	24	2985	c.2861A>G	c.(2860-2862)cAg>cGg	p.Q954R	IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q382R	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	954					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.Q954R(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATAAATAAACAGAAGGGAGGT	0.368																																																1	Substitution - Missense(1)	ovary(1)	15											138	159	152					15																	91019971		2198	4298	6496	88820975	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2861A>G	15.37:g.91019971A>G	ENSP00000268182:p.Gln954Arg		88820975	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.353734	0.61293	.	.	ENSG00000140575	ENST00000268182	T	0.02280	4.36	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.01189	0.0039	N	0.01352	-0.895	0.80722	D	1	B	0.18310	0.027	B	0.18561	0.022	T	0.63470	-0.6630	10	0.16420	T	0.52	-22.4352	15.165	0.72818	1.0:0.0:0.0:0.0	.	954	P46940	IQGA1_HUMAN	R	954	ENSP00000268182:Q954R	ENSP00000268182:Q954R	Q	+	2	0	IQGAP1	88820975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.204000	0.95041	2.178000	0.69098	0.533000	0.62120	CAG		0.368	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		G	91019971	A	G	91019971	3	3	106	1	0	0	0	0	1	0	0	0	7814	188	7	4	2955	4	IQGAP1	15	91019971	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09	5676852	91019971	11511421	44	5664											
TSC2	7249	genome.wustl.edu	37	16	2136353	2136353	+	Missense_Mutation	SNP	T	T	G	rs137854399		TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	T	T	G	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr16:2136353T>G	ENST00000219476.3	+	37	5452	c.4822T>G	c.(4822-4824)Tac>Gac	p.Y1608D	TSC2_ENST00000353929.4_Missense_Mutation_p.Y1565D|TSC2_ENST00000350773.4_Missense_Mutation_p.Y1585D|TSC2_ENST00000401874.2_Missense_Mutation_p.Y1541D|TSC2_ENST00000439673.2_Missense_Mutation_p.Y1505D|TSC2_ENST00000568454.1_Missense_Mutation_p.Y1552D|TSC2_ENST00000382538.6_Missense_Mutation_p.Y1493D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1608	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.Y1608D(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGTTCACCTACTGCTGGCA	0.667			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	2	Substitution - Missense(2)	ovary(2)	16											137	105	116					16																	2136353		2196	4299	6495	2076354	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4822T>G	16.37:g.2136353T>G	ENSP00000219476:p.Tyr1608Asp		2076354	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894571	0.72639	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	4.21	4.21	0.49690	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999;0.999;0.999	D	0.97626	1.0139	10	0.87932	D	0	-28.2122	13.441	0.61112	0.0:0.0:0.0:1.0	.	1493;1505;1585;383;1564;1541;1608	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	D	1608;1542;1565;1505;1493;1585	ENSP00000219476:Y1608D;ENSP00000248099:Y1565D;ENSP00000399232:Y1505D;ENSP00000371978:Y1493D;ENSP00000344383:Y1585D	ENSP00000219476:Y1608D	Y	+	1	0	TSC2	2076354	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.071000	0.71229	1.761000	0.52028	0.459000	0.35465	TAC		0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		G	2136353	T	G	2136353	3	3	106	1	0	0	0	0	1	0	0	0	16606	1522	53	5	4964	5	TSC2	16	2136353	Missense_Mutation	SNP	T	TCGA-13-0903-01A-01W-0421-09		2136353	88218400	45	5665											
GTF3C1	2975	genome.wustl.edu	37	16	27509110	27509110	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr16:27509110C>T	ENST00000356183.4	-	14	2213	c.2198G>A	c.(2197-2199)gGg>gAg	p.G733E	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G733E	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	733					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.G733E(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCTGCCTCCCCTTGGGGCAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	16											99	93	95					16																	27509110		2197	4300	6497	27416611	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2198G>A	16.37:g.27509110C>T	ENSP00000348510:p.Gly733Glu		27416611	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	1.308	-0.603029	0.03744	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.19806	2.12	5.69	-5.9	0.02275	.	0.738886	0.13321	N	0.396656	T	0.04452	0.0122	N	0.02213	-0.635	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.33777	-0.9855	10	0.02654	T	1	-25.6014	4.9016	0.13777	0.1007:0.1894:0.1011:0.6088	.	733;733	Q12789;Q12789-3	TF3C1_HUMAN;.	E	733;731	ENSP00000348510:G733E	ENSP00000348510:G733E	G	-	2	0	GTF3C1	27416611	0.001000	0.12720	0.002000	0.10522	0.872000	0.50106	-0.363000	0.07593	-0.987000	0.03494	-0.142000	0.14014	GGG		0.473	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		T	27509110	C	T	27509110	3	4	106	1	0	0	0	0	1	0	0	0	6872	623	22	2	4227	2	GTF3C1	16	27509110	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09	25372757	27509110	62845643	46	5666											
ITGAL	3683	genome.wustl.edu	37	16	30486634	30486634	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr16:30486634G>A	ENST00000356798.6	+	3	352	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	ITGAL_ENST00000454514.2_Missense_Mutation_p.V58M|ITGAL_ENST00000358164.5_Missense_Mutation_p.V58M|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	58					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.V58M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CAGGGTCATCGTGGGAGCTCC	0.572																																					NSCLC(110;1462 1641 3311 33990 49495)											1	Substitution - Missense(1)	ovary(1)	16											84	86	85					16																	30486634		2197	4300	6497	30394135	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.172G>A	16.37:g.30486634G>A	ENSP00000349252:p.Val58Met		30394135	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083529	0.76642	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000454514	D;T;D	0.95482	-3.72;-1.04;-3.72	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000094	D	0.98002	0.9342	M	0.89968	3.075	0.44395	D	0.997304	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98344	1.0540	10	0.87932	D	0	.	14.8857	0.70567	0.0:0.0:1.0:0.0	.	58;58	Q96HB1;P20701	.;ITAL_HUMAN	M	58	ENSP00000349252:V58M;ENSP00000350886:V58M;ENSP00000408615:V58M	ENSP00000349252:V58M	V	+	1	0	ITGAL	30394135	0.998000	0.40836	0.980000	0.43619	0.698000	0.40448	3.447000	0.52936	2.894000	0.99253	0.591000	0.81541	GTG		0.572	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			A	30486634	G	A	30486634	3	1	106	1	0	0	0	0	1	0	0	0	7886	1145	40	1	182	1	ITGAL	16	30486634	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09	2977524	30486634	59868119	47	5667											
TP53	7157	genome.wustl.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		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"	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	17											136	121	126					17																	7578235		2203	4300	6503	7518960	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.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys		7518960	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	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	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	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578235	T	C	7578235	3	2	106	1	0	0	0	0	1	0	0	0	16381	1406	49	4	680	4	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-13-0903-01A-01W-0421-09		7578235	73616975	48	5668											
DNAH9	1770	genome.wustl.edu	37	17	11808979	11808979	+	Splice_Site	SNP	G	G	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr17:11808979G>T	ENST00000262442.4	+	61	11670	c.11602G>T	c.(11602-11604)Gat>Tat	p.D3868Y	DNAH9_ENST00000454412.2_Splice_Site_p.D3868Y|DNAH9_ENST00000608377.1_Splice_Site_p.D180Y|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3868	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D3868Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCTGGCAGAGATTTTGTTGA	0.378																																																1	Substitution - Missense(1)	ovary(1)	17											70	73	72					17																	11808979		2203	4300	6503	11749704	SO:0001630	splice_region_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11601-1G>T	17.37:g.11808979G>T			11749704	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	8.294	0.818287	0.16607	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.09073	3.02;3.02;3.02	4.67	3.7	0.42460	Dynein heavy chain (1);	0.154328	0.56097	D	0.000032	T	0.11324	0.0276	M	0.67700	2.07	0.80722	D	1	B;B	0.17852	0.002;0.024	B;B	0.21546	0.009;0.035	T	0.03473	-1.1033	10	0.51188	T	0.08	.	9.731	0.40361	0.1594:0.0:0.8406:0.0	.	221;3868	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	Y	3868;3868;2450;180;221	ENSP00000262442:D3868Y;ENSP00000414874:D3868Y;ENSP00000379323:D180Y	ENSP00000262442:D3868Y	D	+	1	0	DNAH9	11749704	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	2.274000	0.43390	1.323000	0.45263	-0.137000	0.14449	GAT		0.378	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	T	11808979	G	T	11808979	5	4	106	1	0	0	0	0	0	0	1	0	4608	956	33	3	11844	3	DNAH9	17	11808979	Splice_Site	SNP	G	TCGA-13-0903-01A-01W-0421-09	4230744	11808979	69386231	49	5669											
AZI1	22994	genome.wustl.edu	37	17	79173563	79173563	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr17:79173563C>A	ENST00000269392.4	-	9	1226	c.979G>T	c.(979-981)Gcc>Tcc	p.A327S	AZI1_ENST00000575907.1_Missense_Mutation_p.A327S|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000450824.2_Missense_Mutation_p.A327S|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000374782.3_Missense_Mutation_p.A327S	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		327					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.A327S(1)|p.A327fs*23(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCTCCCGGGCCTTCCTCCTG	0.687																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|central_nervous_system(1)	17											69	65	66					17																	79173563		2202	4299	6501	76788158	SO:0001583	missense	22994																														ENST00000269392.4:c.979G>T	17.37:g.79173563C>A	ENSP00000269392:p.Ala327Ser		76788158	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	C	13.21	2.169236	0.38315	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.30981	1.51;1.51;1.51	3.67	2.68	0.31781	.	0.346962	0.28273	N	0.015943	T	0.30355	0.0762	L	0.51422	1.61	0.25005	N	0.991441	P;P;D;D	0.56287	0.882;0.93;0.975;0.974	B;P;P;P	0.52823	0.42;0.521;0.555;0.71	T	0.10870	-1.0611	10	0.09843	T	0.71	-18.4182	6.5789	0.22583	0.0:0.7713:0.0:0.2287	.	327;327;327;327	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	S	327	ENSP00000393583:A327S;ENSP00000363914:A327S;ENSP00000269392:A327S	ENSP00000269392:A327S	A	-	1	0	AZI1	76788158	0.974000	0.33945	1.000000	0.80357	0.087000	0.18053	1.779000	0.38624	2.038000	0.60285	0.313000	0.20887	GCC		0.687	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			A	79173563	C	A	79173563	3	1	106	1	0	0	0	0	1	0	0	0	1240	739	26	3	2335	3	AZI1	17	79173563	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09	67364584	79173563	2021647	50	5670											
DOCK6	57572	genome.wustl.edu	37	19	11311437	11311437	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr19:11311437C>T	ENST00000294618.7	-	46	5905	c.5894G>A	c.(5893-5895)cGg>cAg	p.R1965Q	DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Missense_Mutation_p.R1304Q|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1965	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1967Q(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GTTGTGATGCCGGAAGAGCTT	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											45	44	44					19																	11311437		1894	4116	6010	11172437	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5894G>A	19.37:g.11311437C>T	ENSP00000294618:p.Arg1965Gln		11172437	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604675	0.96626	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.17528	2.27;2.27	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	L	0.43152	1.355	0.80722	D	1	D;P;D	0.76494	0.997;0.89;0.999	P;P;D	0.69654	0.873;0.478;0.965	T	0.09400	-1.0676	10	0.72032	D	0.01	-22.0202	15.8801	0.79197	0.0:1.0:0.0:0.0	.	1304;1965;1304	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	Q	1965;1304	ENSP00000294618:R1965Q;ENSP00000321556:R1304Q	ENSP00000294618:R1965Q	R	-	2	0	DOCK6	11172437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.026000	0.59711	0.650000	0.86243	CGG		0.592	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		T	11311437	C	T	11311437	3	4	106	1	0	0	0	0	1	0	0	0	4691	652	23	1	261	1	DOCK6	19	11311437	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09		11311437	47817546	51	5671											
CYP4F3	4051	genome.wustl.edu	37	19	15756570	15756570	+	Silent	SNP	G	G	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr19:15756570G>A	ENST00000221307.8	+	3	287	c.240G>A	c.(238-240)ctG>ctA	p.L80L	CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron|CYP4F3_ENST00000585846.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	80					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.L80L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CACAAAGCCTGGCATGCACCT	0.557																																																1	Substitution - coding silent(1)	ovary(1)	19											127	119	122					19																	15756570		2203	4300	6503	15617570	SO:0001819	synonymous_variant	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.240G>A	19.37:g.15756570G>A			15617570	B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	CCDS12332.1																																																																																				0.557	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		A	15756570	G	A	15756570	2	1	106	1	0	0	0	0	0	0	0	1	4190	1335	47	2		2	CYP4F3	19	15756570	Silent	SNP	G	TCGA-13-0903-01A-01W-0421-09	4445133	15756570	43372413	52	5672											
SDCBP2	27111	genome.wustl.edu	37	20	1301033	1301033	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr20:1301033C>G	ENST00000360779.3	-	2	201	c.28G>C	c.(28-30)Gac>Cac	p.D10H	SDCBP2_ENST00000381812.1_Missense_Mutation_p.D10H|SDCBP2_ENST00000339987.3_Missense_Mutation_p.D10H	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	10					intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D10H(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						ACTTTTAGGTCCTCTAGAGAT	0.557																																																1	Substitution - Missense(1)	ovary(1)	20											159	153	155					20																	1301033		1951	4136	6087	1249033	SO:0001583	missense	27111			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.28G>C	20.37:g.1301033C>G	ENSP00000354013:p.Asp10His		1249033	O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Missense_Mutation	SNP	ENST00000360779.3	37	CCDS42848.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091569	0.55968	.	.	ENSG00000125775	ENST00000381812;ENST00000360779;ENST00000339987	T;T;T	0.52754	0.65;0.65;0.65	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	M	0.86268	2.805	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77867	-0.2428	10	0.87932	D	0	-6.042	16.8536	0.86000	0.0:1.0:0.0:0.0	.	10;10	B4DKI5;Q9H190	.;SDCB2_HUMAN	H	10	ENSP00000371233:D10H;ENSP00000354013:D10H;ENSP00000342935:D10H	ENSP00000342935:D10H	D	-	1	0	SDCBP2	1249033	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	6.380000	0.73158	2.507000	0.84556	0.561000	0.74099	GAC		0.557	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489		G	1301033	C	G	1301033	3	3	106	1	0	0	0	0	1	0	0	0	13959	855	30	3	882	3	SDCBP2	20	1301033	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09		1301033	61724487	53	5673											
SLC23A2	9962	genome.wustl.edu	37	20	4883179	4883179	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr20:4883179C>G	ENST00000379333.1	-	5	625	c.233G>C	c.(232-234)aGc>aCc	p.S78T	SLC23A2_ENST00000424750.2_Missense_Mutation_p.S78T|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.S78T	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	78					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.S78T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACTGCCAGTGCTATCCAGGGT	0.512																																																1	Substitution - Missense(1)	ovary(1)	20											80	78	78					20																	4883179		2203	4300	6503	4831179	SO:0001583	missense	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.233G>C	20.37:g.4883179C>G	ENSP00000368637:p.Ser78Thr		4831179	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032406	0.54790	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.18657	2.24;2.24;2.2	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.15132	0.0365	N	0.24115	0.695	0.34205	D	0.673571	B;B;B	0.27882	0.192;0.031;0.031	B;B;B	0.24006	0.05;0.01;0.01	T	0.14282	-1.0478	10	0.15499	T	0.54	-20.4667	17.3301	0.87259	0.0:1.0:0.0:0.0	.	78;78;78	B4DJZ1;A0MSJ5;Q9UGH3	.;.;S23A2_HUMAN	T	78	ENSP00000368637:S78T;ENSP00000344322:S78T;ENSP00000406601:S78T	ENSP00000344322:S78T	S	-	2	0	SLC23A2	4831179	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.798000	0.85924	2.430000	0.82344	0.643000	0.83706	AGC		0.512	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			G	4883179	C	G	4883179	3	3	106	1	0	0	0	0	1	0	0	0	14466	797	28	3	1771	3	SLC23A2	20	4883179	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09	3582146	4883179	58142341	54	5674											
SEC23B	10483	genome.wustl.edu	37	20	18496360	18496360	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr20:18496360A>C	ENST00000336714.3	+	4	778	c.346A>C	c.(346-348)Aca>Cca	p.T116P	SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377475.3_Missense_Mutation_p.T116P|SEC23B_ENST00000262544.2_Missense_Mutation_p.T116P|SEC23B_ENST00000377465.1_Missense_Mutation_p.T116P	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	116					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.T116P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CCAGTTTTCTACAATTGAGTA	0.378																																																1	Substitution - Missense(1)	ovary(1)	20											175	125	142					20																	18496360		2203	4300	6503	18444360	SO:0001583	missense	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.346A>C	20.37:g.18496360A>C	ENSP00000338844:p.Thr116Pro		18444360	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736438	0.89482	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.04	5.04	0.67666	Zinc finger, Sec23/Sec24-type (1);	0.000000	0.85682	D	0.000000	D	0.94653	0.8276	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.96	D	0.96106	0.9073	10	0.87932	D	0	-15.7323	14.4009	0.67044	1.0:0.0:0.0:0.0	.	116;116	B4DJW8;Q15437	.;SC23B_HUMAN	P	116	ENSP00000403971:T116P;ENSP00000338844:T116P;ENSP00000262544:T116P;ENSP00000366695:T116P;ENSP00000366685:T116P	ENSP00000262544:T116P	T	+	1	0	SEC23B	18444360	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.929000	0.92859	2.241000	0.73720	0.528000	0.53228	ACA		0.378	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			C	18496360	A	C	18496360	3	2	106	1	0	0	0	0	1	0	0	0	13995	391	14	5	356	5	SEC23B	20	18496360	Missense_Mutation	SNP	A	TCGA-13-0903-01A-01W-0421-09	13613181	18496360	44529160	55	5675											
FOXA2	3170	genome.wustl.edu	37	20	22563343	22563343	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr20:22563343C>A	ENST00000377115.4	-	3	700	c.519G>T	c.(517-519)caG>caT	p.Q173H	FOXA2_ENST00000419308.2_Missense_Mutation_p.Q179H	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	173					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q173H(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGGGGCTCTGCTGGATGGCCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											127	110	116					20																	22563343		2203	4300	6503	22511343	SO:0001583	missense	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.519G>T	20.37:g.22563343C>A	ENSP00000366319:p.Gln173His		22511343	Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864828	0.71949	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.95690	-3.78;-3.78;-3.78	4.98	4.02	0.46733	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000018	D	0.95364	0.8495	M	0.79693	2.465	0.80722	D	1	P;B	0.35600	0.511;0.273	B;B	0.40199	0.239;0.322	D	0.96047	0.9028	10	0.87932	D	0	.	13.4035	0.60898	0.0:0.9206:0.0:0.0794	.	173;179	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	H	173;173;179;59	ENSP00000366319:Q173H;ENSP00000400341:Q173H;ENSP00000315955:Q179H	ENSP00000315955:Q179H	Q	-	3	2	FOXA2	22511343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.299000	0.51826	2.304000	0.77564	0.574000	0.79327	CAG		0.622	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			A	22563343	C	A	22563343	3	1	106	1	0	0	0	0	1	0	0	0	5990	796	28	3	858	3	FOXA2	20	22563343	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09	4066983	22563343	40462177	56	5676											
MOCS3	8813	genome.wustl.edu	37	20	49575512	49575512	+	5'Flank	SNP	C	C	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr20:49575512C>A	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.P45T|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.P45T(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						ACGGCTGGTTCCGGTGTCGCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											32	39	37					20																	49575512		2142	4203	6345	49008919	SO:0001631	upstream_gene_variant	27304			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575512C>A	Exception_encountered		49008919	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777058	0.31411	.	.	ENSG00000124217	ENST00000244051	T	0.71817	-0.6	5.02	0.685	0.18009	Molybdenum cofactor biosynthesis, MoeB (1);	0.812175	0.11582	N	0.549650	T	0.55000	0.1893	L	0.31476	0.935	0.09310	N	1	B	0.24258	0.1	B	0.21708	0.036	T	0.36866	-0.9730	9	.	.	.	-19.624	9.6597	0.39947	0.0:0.52:0.4053:0.0747	.	45	O95396	MOCS3_HUMAN	T	45	ENSP00000244051:P45T	.	P	+	1	0	MOCS3	49008919	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.123000	0.10611	0.076000	0.16826	-0.165000	0.13383	CCG		0.622	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		A	49575512	C	A	49575512	1	1	106	0	1	0	0	0	0	0	0	0	9692	855	30	3		3	MOCS3	20	49575512	5'Flank	SNP	C	TCGA-13-0903-01A-01W-0421-09	27012169	49575512	13450008	57	5677											
NFATC2	4773	genome.wustl.edu	37	20	50140459	50140459	+	Silent	SNP	C	C	T	rs568487915		TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr20:50140459C>T	ENST00000396009.3	-	2	540	c.321G>A	c.(319-321)tcG>tcA	p.S107S	NFATC2_ENST00000609943.1_Silent_p.S87S|NFATC2_ENST00000414705.1_Silent_p.S87S|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000371564.3_Silent_p.S107S	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	107					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S107S(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCTCAGGCCCGAGGCCCCTG	0.687													C|||	1	0.000199681	0	0	5008	,	,		13719	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	20											30	35	33					20																	50140459		2192	4282	6474	49573866	SO:0001819	synonymous_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.321G>A	20.37:g.50140459C>T			49573866	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	CCDS13437.1																																																																																				0.687	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		T	50140459	C	T	50140459	2	4	106	1	0	0	0	0	0	0	0	1	10362	639	23	1		1	NFATC2	20	50140459	Silent	SNP	C	TCGA-13-0903-01A-01W-0421-09	564947	50140459	12885061	58	5678											
LIPI	149998	genome.wustl.edu	37	21	15535806	15535806	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr21:15535806T>A	ENST00000536861.1	-	7	939	c.940A>T	c.(940-942)Agg>Tgg	p.R314W	LIPI_ENST00000344577.2_Missense_Mutation_p.R335W			Q6XZB0	LIPI_HUMAN	lipase, member I	314					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.R335W(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CCTTCCATCCTTTCTTTTAAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	21											106	114	112					21																	15535806		2203	4297	6500	14457677	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.940A>T	21.37:g.15535806T>A	ENSP00000440381:p.Arg314Trp		14457677	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	T	14.88	2.666533	0.47677	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.88975	-2.45;-2.43	5.12	2.74	0.32292	.	0.879656	0.09618	N	0.777943	D	0.92172	0.7518	M	0.75884	2.315	0.09310	N	1	D	0.65815	0.995	P	0.60789	0.879	T	0.80679	-0.1275	10	0.87932	D	0	.	6.052	0.19790	0.0:0.0858:0.1649:0.7493	.	335	Q6XZB0-2	.	W	335;314	ENSP00000343331:R335W;ENSP00000440381:R314W	ENSP00000343331:R335W	R	-	1	2	LIPI	14457677	0.007000	0.16637	0.014000	0.15608	0.005000	0.04900	0.875000	0.28079	0.369000	0.24510	-0.389000	0.06534	AGG		0.299	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		A	15535806	T	A	15535806	3	1	106	1	0	0	0	0	1	0	0	0	8825	1608	56	5	458	5	LIPI	21	15535806	Missense_Mutation	SNP	T	TCGA-13-0903-01A-01W-0421-09		15535806	32594089	59	5679											
LARGE	9215	genome.wustl.edu	37	22	33712112	33712112	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chr22:33712112G>C	ENST00000354992.2	-	12	1981	c.1410C>G	c.(1408-1410)gaC>gaG	p.D470E	LARGE_ENST00000397394.2_Missense_Mutation_p.D470E|LARGE_ENST00000402320.1_Missense_Mutation_p.D418E|LARGE_ENST00000437602.2_Missense_Mutation_p.D470E|LARGE_ENST00000337431.2_Missense_Mutation_p.D418E|LARGE_ENST00000452586.2_Missense_Mutation_p.D269E	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	470					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.D470E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CGTCCGTGCTGTCTGCTGCAG	0.607																																					Colon(70;397 1175 4573 19089 45288)											1	Substitution - Missense(1)	ovary(1)	22											142	103	116					22																	33712112		2203	4300	6503	32042112	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1410C>G	22.37:g.33712112G>C	ENSP00000347088:p.Asp470Glu		32042112	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	6.741	0.505488	0.12822	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.54279	1.05;1.07;1.05;1.07;0.62;0.58	5.26	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.35723	1.085	0.58432	D	0.999994	B;B;B;B	0.19706	0.038;0.002;0.013;0.017	B;B;B;B	0.17979	0.013;0.008;0.02;0.013	T	0.16394	-1.0404	10	0.17832	T	0.49	2.7168	10.9792	0.47483	0.1498:0.0:0.8502:0.0	.	470;269;418;470	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	E	147;147;147;470;418;470;418;269;470	ENSP00000347088:D470E;ENSP00000336636:D418E;ENSP00000380549:D470E;ENSP00000385223:D418E;ENSP00000407917:D269E;ENSP00000388544:D470E	ENSP00000336636:D418E	D	-	3	2	LARGE	32042112	1.000000	0.71417	0.418000	0.26571	0.053000	0.15095	2.511000	0.45476	1.225000	0.43566	-0.136000	0.14681	GAC		0.607	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		C	33712112	G	C	33712112	3	2	106	1	0	0	0	0	1	0	0	0	8627	1368	48	3	880	3	LARGE	22	33712112	Missense_Mutation	SNP	G	TCGA-13-0903-01A-01W-0421-09		33712112	17592454	60	5680											
ARHGAP36	158763	genome.wustl.edu	37	X	130220567	130220567	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0903-01A-01W-0421-09	TCGA-13-0903-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	854167b5-03ab-4867-af34-9c92e385822e	1924390a-e794-4a5b-96ac-7daa074b4ac7	g.chrX:130220567C>A	ENST00000276211.5	+	11	1759	c.1414C>A	c.(1414-1416)Ctt>Att	p.L472I	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L460I|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L336I	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	472					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L472I(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGATGCACTACTTTCTGATCC	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											115	100	105					X																	130220567		2203	4300	6503	130048248	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1414C>A	X.37:g.130220567C>A	ENSP00000276211:p.Leu472Ile		130048248	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102971	0.20632	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.11604	2.76;2.76;2.77;2.77	4.32	3.43	0.39272	.	0.000000	0.43110	D	0.000611	T	0.04907	0.0132	N	0.08118	0	0.27202	N	0.960137	B;B;B	0.32101	0.356;0.356;0.243	B;B;B	0.29598	0.104;0.104;0.048	T	0.36672	-0.9738	10	0.25751	T	0.34	.	8.9596	0.35838	0.0:0.7793:0.2207:0.0	.	441;460;472	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	I	472;460;441;336	ENSP00000276211:L472I;ENSP00000359960:L460I;ENSP00000408515:L441I;ENSP00000359959:L336I	ENSP00000276211:L472I	L	+	1	0	ARHGAP36	130048248	0.608000	0.26966	0.998000	0.56505	0.889000	0.51656	0.907000	0.28531	1.123000	0.41961	0.594000	0.82650	CTT		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		A	130220567	C	A	130220567	3	1	106	1	0	0	0	0	1	0	0	0	883	565	20	3	1452	3	ARHGAP36	23	130220567	Missense_Mutation	SNP	C	TCGA-13-0903-01A-01W-0421-09		130220567	25049993	61	5681											
IQCC	55721	broad.mit.edu	37	1	32673193	32673193	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:32673193A>T	ENST00000291358.6	+	5	932	c.911A>T	c.(910-912)gAt>gTt	p.D304V	RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|DCDC2B_ENST00000409358.1_5'Flank|IQCC_ENST00000537469.1_Missense_Mutation_p.D384V	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	304								p.D304V(1)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGCCAGACGATGGAAGACAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											49	50	49					1																	32673193		2203	4300	6503	32445780	SO:0001583	missense	55721			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.911A>T	1.37:g.32673193A>T	ENSP00000291358:p.Asp304Val		32445780	F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	CCDS355.1	.	.	.	.	.	.	.	.	.	.	A	1.276	-0.611739	0.03690	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.10192	2.9;2.9	3.98	-7.96	0.01144	.	2.588410	0.01144	N	0.006277	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33854	-0.9852	10	0.23891	T	0.37	22.044	1.2754	0.02030	0.3868:0.1077:0.2912:0.2143	.	384;304	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	V	384;304	ENSP00000442291:D384V;ENSP00000291358:D304V	ENSP00000291358:D304V	D	+	2	0	IQCC	32445780	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.808000	0.00756	-2.111000	0.00836	-0.723000	0.03601	GAT		0.547	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		T	32673193	A	T	32673193	3	4	107	1	0	0	0	0	1	0	0	0	7804	333	12	5	1169	5	IQCC	1	32673193	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08		32673193	216577428	1	5682											
MAP7D1	55700	broad.mit.edu	37	1	36645538	36645538	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:36645538G>C	ENST00000373151.2	+	16	2601	c.2385G>C	c.(2383-2385)caG>caC	p.Q795H	MAP7D1_ENST00000373148.4_Missense_Mutation_p.Q331H|MAP7D1_ENST00000316156.4_Missense_Mutation_p.Q757H|MAP7D1_ENST00000373150.4_Missense_Mutation_p.Q762H	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	795					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.Q795H(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)				CAGCACACCAGGAGAATGGCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											49	49	49					1																	36645538		2203	4300	6503	36418125	SO:0001583	missense	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.2385G>C	1.37:g.36645538G>C	ENSP00000362244:p.Gln795His		36418125	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212212	0.58452	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373153;ENST00000373148	T;T;T;T	0.15372	2.66;2.86;2.85;2.43	5.24	5.24	0.73138	.	0.000000	0.38164	N	0.001786	T	0.17152	0.0412	N	0.24115	0.695	0.35609	D	0.808464	P;B;B;P;B	0.46395	0.877;0.218;0.324;0.552;0.417	P;B;B;B;B	0.53861	0.736;0.078;0.095;0.135;0.064	T	0.11275	-1.0594	10	0.21014	T	0.42	-29.6849	7.4278	0.27109	0.0867:0.1693:0.744:0.0	.	331;794;757;762;795	Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;.;.;MA7D1_HUMAN	H	757;762;795;118;331	ENSP00000320228:Q757H;ENSP00000362243:Q762H;ENSP00000362244:Q795H;ENSP00000362241:Q331H	ENSP00000320228:Q757H	Q	+	3	2	MAP7D1	36418125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.542000	0.23222	2.732000	0.93576	0.655000	0.94253	CAG		0.597	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		C	36645538	G	C	36645538	3	2	107	1	0	0	0	0	1	0	0	0	9267	991	35	3	2447	3	MAP7D1	1	36645538	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	3972345	36645538	212605083	2	5683											
PRKAA2	5563	broad.mit.edu	37	1	57140178	57140178	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:57140178T>A	ENST00000371244.4	+	2	285	c.219T>A	c.(217-219)caT>caA	p.H73Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.H73Q(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TCTTTCGTCATCCTCATATTA	0.254																																																1	Substitution - Missense(1)	ovary(1)	1											59	68	65					1																	57140178		2200	4295	6495	56912766	SO:0001583	missense	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.219T>A	1.37:g.57140178T>A	ENSP00000360290:p.His73Gln		56912766	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.575250	0.65878	.	.	ENSG00000162409	ENST00000371244	T	0.78481	-1.18	5.47	1.89	0.25635	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094859	0.64402	D	0.000001	D	0.90174	0.6929	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88669	0.3194	10	0.87932	D	0	-29.1127	8.6265	0.33892	0.0:0.4581:0.0:0.5419	.	73	P54646	AAPK2_HUMAN	Q	73	ENSP00000360290:H73Q	ENSP00000360290:H73Q	H	+	3	2	PRKAA2	56912766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.704000	0.25661	0.127000	0.18452	0.533000	0.62120	CAT		0.254	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		A	57140178	T	A	57140178	3	1	107	1	0	0	0	0	1	0	0	0	12497	1432	50	5	225	5	PRKAA2	1	57140178	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08	20494640	57140178	192110443	3	5684											
BTBD8	284697	broad.mit.edu	37	1	92568090	92568090	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:92568090G>T	ENST00000342818.3	+	3	644	c.408G>T	c.(406-408)aaG>aaT	p.K136N	BTBD8_ENST00000370382.3_Missense_Mutation_p.K136N|BTBD8_ENST00000540648.1_Missense_Mutation_p.K136N	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	136			K -> R (in dbSNP:rs17131602).			nucleus (GO:0005634)		p.K136N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTAGGAAAAAGATAATGGAGA	0.289																																																1	Substitution - Missense(1)	ovary(1)	1											58	59	59					1																	92568090		2203	4299	6502	92340678	SO:0001583	missense	284697			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.408G>T	1.37:g.92568090G>T	ENSP00000343686:p.Lys136Asn		92340678	Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	9.271	1.045703	0.19748	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.65549	1.85;-0.16;1.83	5.66	3.76	0.43208	BTB/POZ-like (1);BTB/POZ fold (1);	0.279011	0.30584	N	0.009314	T	0.27967	0.0689	L	0.55481	1.735	0.19300	N	0.999975	B	0.19445	0.036	B	0.16289	0.015	T	0.18053	-1.0349	10	0.16420	T	0.52	-5.708	5.3726	0.16148	0.167:0.0:0.67:0.163	.	136	Q5XKL5	BTBD8_HUMAN	N	136	ENSP00000359408:K136N;ENSP00000343686:K136N;ENSP00000443397:K136N	ENSP00000343686:K136N	K	+	3	2	BTBD8	92340678	0.998000	0.40836	0.593000	0.28771	0.512000	0.34134	2.678000	0.46900	0.706000	0.31912	-0.229000	0.12294	AAG		0.289	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		T	92568090	G	T	92568090	3	4	107	1	0	0	0	0	1	0	0	0	1547	933	33	3	418	3	BTBD8	1	92568090	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	35427912	92568090	156682531	4	5685											
LRIG2	9860	broad.mit.edu	37	1	113666711	113666711	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:113666711T>G	ENST00000361127.5	+	18	3384	c.3186T>G	c.(3184-3186)agT>agG	p.S1062R	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	1062					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1062R(1)|p.S1062S(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AAGATGGTAGTGAGGGCACAT	0.438																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)	1											84	74	78					1																	113666711		2203	4300	6503	113468234	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.3186T>G	1.37:g.113666711T>G	ENSP00000355396:p.Ser1062Arg		113468234	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336698	0.24253	.	.	ENSG00000198799	ENST00000361127	T	0.61627	0.09	5.9	-0.81	0.10860	.	0.478673	0.22630	N	0.057586	T	0.12092	0.0294	N	0.16478	0.41	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.16600	-1.0397	10	0.25751	T	0.34	.	1.1107	0.01704	0.208:0.2471:0.1072:0.4377	.	1062	O94898	LRIG2_HUMAN	R	1062	ENSP00000355396:S1062R	ENSP00000355396:S1062R	S	+	3	2	LRIG2	113468234	0.060000	0.20803	0.569000	0.28460	0.597000	0.36814	-0.241000	0.08940	0.143000	0.18926	0.528000	0.53228	AGT		0.438	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		G	113666711	T	G	113666711	3	3	107	1	0	0	0	0	1	0	0	0	8945	1693	59	5	3256	5	LRIG2	1	113666711	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08	21098621	113666711	135583910	5	5686											
SLC22A15	55356	broad.mit.edu	37	1	116562225	116562225	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:116562225C>A	ENST00000369503.4	+	3	453	c.323C>A	c.(322-324)tCc>tAc	p.S108Y	SLC22A15_ENST00000369502.1_Missense_Mutation_p.S108Y|RP11-159M11.2_ENST00000453128.1_RNA	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	108					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.S108Y(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GCCAACAGATCCTACAAAGTC	0.368																																																1	Substitution - Missense(1)	ovary(1)	1											150	127	134					1																	116562225		1830	4089	5919	116363748	SO:0001583	missense	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.323C>A	1.37:g.116562225C>A	ENSP00000358515:p.Ser108Tyr		116363748	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086286	0.76642	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76448	-1.02;-0.65	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.113338	0.64402	D	0.000008	D	0.83963	0.5368	M	0.70108	2.13	0.41184	D	0.986257	D;D	0.67145	0.994;0.996	D;P	0.64410	0.925;0.878	D	0.83422	0.0033	10	0.46703	T	0.11	.	17.2158	0.86943	0.0:1.0:0.0:0.0	.	108;108	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	Y	108	ENSP00000358515:S108Y;ENSP00000358514:S108Y	ENSP00000358514:S108Y	S	+	2	0	SLC22A15	116363748	1.000000	0.71417	0.996000	0.52242	0.904000	0.53231	5.851000	0.69481	2.731000	0.93534	0.655000	0.94253	TCC		0.368	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		A	116562225	C	A	116562225	3	1	107	1	0	0	0	0	1	0	0	0	14449	855	30	3	333	3	SLC22A15	1	116562225	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	2895514	116562225	132688396	6	5687											
RNF115	27246	broad.mit.edu	37	1	145682046	145682046	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:145682046G>A	ENST00000369291.5	+	5	656	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_014455.2	NP_055270.1			ring finger protein 115									p.G151E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						ATCTTTGCAGGATTCTTTGCA	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											199	192	194					1																	145682046		2203	4300	6503	144393403	SO:0001583	missense	27246			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"RING-type (C3HC4) zinc fingers"	18154	protein-coding gene	gene with protein product			"zinc finger protein 364"	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.452G>A	1.37:g.145682046G>A	ENSP00000358297:p.Gly151Glu		144393403		Missense_Mutation	SNP	ENST00000369291.5	37	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430902	0.62844	.	.	ENSG00000121848	ENST00000369291	T	0.12569	2.67	4.93	4.02	0.46733	.	0.110858	0.64402	N	0.000009	T	0.12902	0.0313	M	0.72894	2.215	0.54753	D	0.999987	D	0.64830	0.994	P	0.50537	0.643	T	0.02844	-1.1103	10	0.35671	T	0.21	-3.7531	10.8007	0.46487	0.0915:0.0:0.9085:0.0	.	151	Q9Y4L5	RN115_HUMAN	E	151	ENSP00000358297:G151E	ENSP00000358297:G151E	G	+	2	0	RNF115	144393403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.230000	0.65321	1.295000	0.44724	0.655000	0.94253	GGA		0.353	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		A	145682046	G	A	145682046	3	1	107	1	0	0	0	0	1	0	0	0	13433	1174	41	2	470	2	RNF115	1	145682046	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	29119821	145682046	103568575	7	5688											
SPRR2E	6704	broad.mit.edu	37	1	153066108	153066108	+	Silent	SNP	C	C	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:153066108C>T	ENST00000368751.1	-	2	194	c.120G>A	c.(118-120)aaG>aaA	p.K40K	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Silent_p.K40K			P22531	SPR2E_HUMAN	small proline-rich protein 2E	40	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)	p.K40K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGTGGACACTTTGGTGGTG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	1											153	150	151					1																	153066108		2203	4300	6503	151332732	SO:0001819	synonymous_variant	6704			AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.120G>A	1.37:g.153066108C>T			151332732	Q5T9T4|Q96RM2	Silent	SNP	ENST00000368751.1	37	CCDS30866.1																																																																																				0.622	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			T	153066108	C	T	153066108	2	4	107	1	0	0	0	0	0	0	0	1	15102	564	20	2		2	SPRR2E	1	153066108	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08	7384062	153066108	96184513	8	5689											
ISG20L2	81875	broad.mit.edu	37	1	156693229	156693229	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:156693229A>G	ENST00000313146.6	-	3	1756	c.974T>C	c.(973-975)gTg>gCg	p.V325A	ISG20L2_ENST00000368219.1_Missense_Mutation_p.V325A|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	325	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)	p.V325A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCATCTTCCACAGAGGAATG	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											161	151	154					1																	156693229		2203	4300	6503	154959853	SO:0001583	missense	81875			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.974T>C	1.37:g.156693229A>G	ENSP00000323424:p.Val325Ala		154959853	D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	A	32	5.128437	0.94473	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.22743	1.94;1.94	5.61	5.61	0.85477	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.64402	D	0.000001	T	0.37705	0.1013	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26326	-1.0106	10	0.72032	D	0.01	-15.3649	14.9148	0.70789	1.0:0.0:0.0:0.0	.	325	Q9H9L3	I20L2_HUMAN	A	325	ENSP00000323424:V325A;ENSP00000357202:V325A	ENSP00000323424:V325A	V	-	2	0	ISG20L2	154959853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.052000	0.93855	2.255000	0.74692	0.533000	0.62120	GTG		0.517	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		G	156693229	A	G	156693229	3	3	107	1	0	0	0	0	1	0	0	0	7855	159	6	4	91	4	ISG20L2	1	156693229	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08	3627121	156693229	92557392	9	5690											
UCHL5	51377	broad.mit.edu	37	1	193018899	193018899	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:193018899C>G	ENST00000367455.4	-	3	458	c.223G>C	c.(223-225)Gac>Cac	p.D75H	UCHL5_ENST00000530098.2_Intron|UCHL5_ENST00000367454.1_Missense_Mutation_p.D75H|UCHL5_ENST00000367448.1_Missense_Mutation_p.D75H|UCHL5_ENST00000367451.4_Missense_Mutation_p.D75H|UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Missense_Mutation_p.D75H	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	75					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)	p.D75H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						AATATCGTGTCAAGTCGGGAG	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											66	69	68					1																	193018899		2203	4300	6503	191285522	SO:0001583	missense	51377				CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"INO80 complex subunits"	19678	protein-coding gene	gene with protein product	"INO80 complex subunit R"	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.223G>C	1.37:g.193018899C>G	ENSP00000356425:p.Asp75His		191285522	Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Missense_Mutation	SNP	ENST00000367455.4	37	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959609	0.92791	.	.	ENSG00000116750	ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000391991;ENST00000421683	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.3	5.3	0.74995	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.046749	0.85682	D	0.000000	T	0.61185	0.2327	M	0.80028	2.48	0.80722	D	1	P;P;P;B	0.49862	0.563;0.929;0.476;0.215	P;P;B;B	0.53062	0.472;0.717;0.139;0.102	T	0.66728	-0.5850	10	0.72032	D	0.01	-12.2225	18.0784	0.89435	0.0:1.0:0.0:0.0	.	75;75;75;75	Q9Y5K5-2;Q9Y5K5-4;Q9Y5K5-3;Q9Y5K5	.;.;.;UCHL5_HUMAN	H	75;75;87;75;75;75;65;66	ENSP00000356425:D75H;ENSP00000356424:D75H;ENSP00000356420:D87H;ENSP00000356421:D75H;ENSP00000356418:D75H;ENSP00000356419:D75H;ENSP00000389563:D66H	ENSP00000356418:D75H	D	-	1	0	UCHL5	191285522	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.963000	0.76055	2.638000	0.89438	0.591000	0.81541	GAC		0.408	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984		G	193018899	C	G	193018899	3	3	107	1	0	0	0	0	1	0	0	0	16922	826	29	3	802	3	UCHL5	1	193018899	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	36325670	193018899	56231722	10	5691											
USH2A	7399	broad.mit.edu	37	1	216052179	216052179	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr1:216052179C>A	ENST00000307340.3	-	42	8871	c.8485G>T	c.(8485-8487)Gtg>Ttg	p.V2829L	USH2A_ENST00000366943.2_Missense_Mutation_p.V2829L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2829	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2829L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTGGAATCACAGACAATGGG	0.448										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											138	127	131					1																	216052179		2203	4300	6503	214118802	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8485G>T	1.37:g.216052179C>A	ENSP00000305941:p.Val2829Leu		214118802	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	8.672	0.902980	0.17760	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59638	0.25;0.25	5.8	3.92	0.45320	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.821323	0.09906	N	0.740461	T	0.57695	0.2071	M	0.72118	2.19	0.36963	D	0.893423	B	0.24258	0.1	B	0.26094	0.066	T	0.55270	-0.8167	10	0.44086	T	0.13	.	9.136	0.36875	0.0:0.7452:0.1212:0.1336	.	2829	O75445	USH2A_HUMAN	L	2829	ENSP00000305941:V2829L;ENSP00000355910:V2829L	ENSP00000305941:V2829L	V	-	1	0	USH2A	214118802	0.247000	0.23920	0.001000	0.08648	0.019000	0.09904	1.435000	0.34969	0.776000	0.33473	-0.145000	0.13849	GTG		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216052179	C	A	216052179	3	1	107	1	0	0	0	0	1	0	0	0	17036	478	17	3	7247	3	USH2A	1	216052179	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	23033280	216052179	33198442	11	5692											
MEMO1	51072	broad.mit.edu	37	2	32143001	32143001	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:32143001A>T	ENST00000295065.5	-	5	740	c.431T>A	c.(430-432)aTg>aAg	p.M144K	MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.M144K|MEMO1_ENST00000426310.2_Missense_Mutation_p.M121K|AL121652.1_ENST00000408399.1_RNA|MEMO1_ENST00000379383.3_Missense_Mutation_p.M147K	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	144					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.M144K(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ATACCTTTCCATGGCTTTAGC	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											80	74	76					2																	32143001		2203	4300	6503	31996505	SO:0001583	missense	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"chromosome 2 open reading frame 4"	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.431T>A	2.37:g.32143001A>T	ENSP00000295065:p.Met144Lys		31996505	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.673958	0.88445	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.97110	0.888;1.0	T	0.81737	-0.0796	9	0.87932	D	0	-6.8456	15.6519	0.77104	1.0:0.0:0.0:0.0	.	121;144	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	K	144;147;144;121	.	ENSP00000295065:M144K	M	-	2	0	MEMO1	31996505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.045000	0.93812	2.238000	0.73509	0.477000	0.44152	ATG		0.348	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		T	32143001	A	T	32143001	3	4	107	1	0	0	0	0	1	0	0	0	9471	217	8	5	482	5	MEMO1	2	32143001	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08		32143001	211056372	12	5693											
CLEC4F	165530	broad.mit.edu	37	2	71044223	71044223	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:71044223T>C	ENST00000272367.2	-	4	366	c.290A>G	c.(289-291)gAg>gGg	p.E97G	CLEC4F_ENST00000426626.1_Missense_Mutation_p.E97G	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	97					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E97G(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CATTTCTGCCTCCCTGCCAAA	0.488																																					Colon(107;10 2157 6841 26035)											1	Substitution - Missense(1)	ovary(1)	2											51	47	48					2																	71044223		2203	4300	6503	70897731	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.290A>G	2.37:g.71044223T>C	ENSP00000272367:p.Glu97Gly		70897731	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	T	9.861	1.196342	0.22037	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01933	4.6;4.55	4.82	-3.21	0.05140	.	2.075290	0.02696	N	0.111199	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.47812	-0.9088	10	0.48119	T	0.1	.	6.4441	0.21867	0.2717:0.1317:0.0:0.5966	.	97;97	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	G	97	ENSP00000272367:E97G;ENSP00000390581:E97G	ENSP00000272367:E97G	E	-	2	0	CLEC4F	70897731	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	-1.089000	0.03376	-0.325000	0.08577	0.383000	0.25322	GAG		0.488	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		C	71044223	T	C	71044223	3	2	107	1	0	0	0	0	1	0	0	0	3516	1551	54	4	1495	4	CLEC4F	2	71044223	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08	38901222	71044223	172155150	13	5694											
SNRNP200	23020	broad.mit.edu	37	2	96957181	96957181	+	Silent	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:96957181G>T	ENST00000323853.5	-	18	2447	c.2370C>A	c.(2368-2370)acC>acA	p.T790T	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	790	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.T790T(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCAACCCTGGTCATGCCTG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	2											144	144	144					2																	96957181		2203	4300	6503	96320908	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2370C>A	2.37:g.96957181G>T			96320908	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																				0.502	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		T	96957181	G	T	96957181	2	4	107	1	0	0	0	0	0	0	0	1	14855	1335	47	3		3	SNRNP200	2	96957181	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08	25912958	96957181	146242192	14	5695											
PTPN18	26469	broad.mit.edu	37	2	131126721	131126721	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:131126721T>C	ENST00000175756.5	+	6	531	c.430T>C	c.(430-432)Tac>Cac	p.Y144H	PTPN18_ENST00000347849.3_Missense_Mutation_p.Y37H	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	144	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.Y144H(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGTGAGCGGTACTGGGCCCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	2											146	158	154					2																	131126721		2203	4300	6503	130843191	SO:0001583	missense	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.430T>C	2.37:g.131126721T>C	ENSP00000175756:p.Tyr144His		130843191	B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882309	0.72294	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	D;D	0.93712	-3.27;-3.27	4.39	4.39	0.52855	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.33670	N	0.004667	D	0.97343	0.9131	H	0.95004	3.61	0.50467	D	0.999872	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.982;0.998;0.999	D	0.98016	1.0368	10	0.87932	D	0	.	12.207	0.54358	0.0:0.0:0.0:1.0	.	144;144;37	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	H	144;37;144	ENSP00000175756:Y144H;ENSP00000310092:Y37H	ENSP00000175756:Y144H	Y	+	1	0	PTPN18	130843191	1.000000	0.71417	0.948000	0.38648	0.955000	0.61496	3.936000	0.56568	1.928000	0.55862	0.528000	0.53228	TAC		0.537	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			C	131126721	T	C	131126721	3	2	107	1	0	0	0	0	1	0	0	0	12787	1638	57	4	452	4	PTPN18	2	131126721	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08	34169540	131126721	112072652	15	5696											
ARHGEF4	50649	broad.mit.edu	37	2	131785570	131785570	+	Missense_Mutation	SNP	C	C	A	rs372979735		TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:131785570C>A	ENST00000326016.5	+	5	999	c.480C>A	c.(478-480)agC>agA	p.S160R	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.S89R|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.S160R|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.S160R|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.S160R	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	160					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.S160R(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AAGTGGGGAGCGAGGAGGACC	0.632																																																1	Substitution - Missense(1)	ovary(1)	2											48	43	45					2																	131785570		2203	4300	6503	131502040	SO:0001583	missense	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.480C>A	2.37:g.131785570C>A	ENSP00000316845:p.Ser160Arg		131502040	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462414	0.63513	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	T;T;T;T;T	0.73258	-0.42;-0.53;-0.53;-0.73;-0.45	4.94	-4.53	0.03462	.	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	L	0.55990	1.75	0.46113	D	0.998876	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.988;0.995;0.988	T	0.75351	-0.3348	10	0.72032	D	0.01	.	12.5047	0.55975	0.0:0.2952:0.0:0.7048	.	160;160;160	E9PEM0;Q9NR80-4;Q9NR80	.;.;ARHG4_HUMAN	R	160;160;160;160;89	ENSP00000316845:S160R;ENSP00000376680:S160R;ENSP00000432267:S160R;ENSP00000387285:S160R;ENSP00000348017:S89R	ENSP00000316845:S160R	S	+	3	2	ARHGEF4	131502040	0.725000	0.28048	0.673000	0.29887	0.750000	0.42670	-0.495000	0.06443	-0.919000	0.03803	0.561000	0.74099	AGC		0.632	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			A	131785570	C	A	131785570	3	1	107	1	0	0	0	0	1	0	0	0	908	767	27	3	490	3	ARHGEF4	2	131785570	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	658849	131785570	111413803	16	5697											
ACVR1	90	broad.mit.edu	37	2	158636974	158636974	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:158636974C>A	ENST00000263640.3	-	4	635	c.206G>T	c.(205-207)gGc>gTc	p.G69V	ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000409283.2_Missense_Mutation_p.G69V|ACVR1_ENST00000434821.1_Missense_Mutation_p.G69V|ACVR1_ENST00000410057.2_Missense_Mutation_p.G69V	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	69					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.G69V(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTGGAAGCAGCCTTTCTGGTA	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											117	113	115					2																	158636974		2203	4300	6503	158345220	SO:0001583	missense	90				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.206G>T	2.37:g.158636974C>A	ENSP00000263640:p.Gly69Val		158345220		Missense_Mutation	SNP	ENST00000263640.3	37	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081604	0.94050	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057;ENST00000412025;ENST00000440523;ENST00000539637;ENST00000424669	D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-2.98	5.26	5.26	0.73747	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99453	1.0941	10	0.66056	D	0.02	.	18.4837	0.90821	0.0:1.0:0.0:0.0	.	69	Q04771	ACVR1_HUMAN	V	69	ENSP00000263640:G69V;ENSP00000387273:G69V;ENSP00000405004:G69V;ENSP00000387127:G69V;ENSP00000403006:G69V;ENSP00000401189:G69V;ENSP00000440091:G69V;ENSP00000400767:G69V	ENSP00000263640:G69V	G	-	2	0	ACVR1	158345220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.701000	0.84566	2.458000	0.83093	0.655000	0.94253	GGC		0.562	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		A	158636974	C	A	158636974	3	1	107	1	0	0	0	0	1	0	0	0	220	739	26	3	1355	3	ACVR1	2	158636974	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	26851404	158636974	84562399	17	5698											
KCNH7	90134	broad.mit.edu	37	2	163253380	163253380	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:163253380A>T	ENST00000332142.5	-	11	2582	c.2483T>A	c.(2482-2484)cTc>cAc	p.L828H		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	828					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L828H(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACAGTATGTGAGGGCTCTTAC	0.353																																					GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)	ovary(1)	2											88	88	88					2																	163253380		2203	4300	6503	162961626	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2483T>A	2.37:g.163253380A>T	ENSP00000331727:p.Leu828His		162961626	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512362	0.85389	.	.	ENSG00000184611	ENST00000332142	D	0.93859	-3.3	5.67	5.67	0.87782	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.97365	0.9138	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98285	1.0510	10	0.87932	D	0	.	15.9118	0.79477	1.0:0.0:0.0:0.0	.	828	Q9NS40	KCNH7_HUMAN	H	828	ENSP00000331727:L828H	ENSP00000331727:L828H	L	-	2	0	KCNH7	162961626	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	9.339000	0.96797	2.162000	0.67917	0.477000	0.44152	CTC		0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		T	163253380	A	T	163253380	3	4	107	1	0	0	0	0	1	0	0	0	8037	304	11	5	1131	5	KCNH7	2	163253380	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08	4616406	163253380	79945993	18	5699											
SCN9A	6335	broad.mit.edu	37	2	167149753	167149753	+	Missense_Mutation	SNP	G	G	C	rs201596319		TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:167149753G>C	ENST00000409435.1	-	8	1094	c.1095C>G	c.(1093-1095)aaC>aaG	p.N365K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N366K|SCN9A_ENST00000409672.1_Missense_Mutation_p.N365K|SCN9A_ENST00000375387.4_Missense_Mutation_p.N366K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	365					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.N365K(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTGGTAAAGGTTTTCCCAGT	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											38	39	39					2																	167149753		1945	4166	6111	166857999	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1095C>G	2.37:g.167149753G>C	ENSP00000386330:p.Asn365Lys		166857999	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499156	0.64298	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.88	2.74	0.32292	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97241	0.9098	M	0.69248	2.105	0.49213	D	0.999763	D;D;P	0.61697	0.982;0.99;0.609	P;D;B	0.73708	0.883;0.981;0.413	D	0.95825	0.8853	10	0.62326	D	0.03	.	5.2824	0.15682	0.5429:0.0:0.4571:0.0	.	365;365;366	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	K	365;366;366;365;230;230	ENSP00000386306:N365K;ENSP00000364536:N366K;ENSP00000304748:N366K;ENSP00000386330:N365K;ENSP00000413212:N230K;ENSP00000393141:N230K	ENSP00000304748:N366K	N	-	3	2	SCN9A	166857999	0.518000	0.26234	1.000000	0.80357	0.990000	0.78478	-0.096000	0.11059	0.825000	0.34637	0.585000	0.79938	AAC		0.403	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		C	167149753	G	C	167149753	3	2	107	1	0	0	0	0	1	0	0	0	13928	1252	44	3	4914	3	SCN9A	2	167149753	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	3896373	167149753	76049620	19	5700											
TTN	7273	broad.mit.edu	37	2	179576748	179576748	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:179576748T>C	ENST00000591111.1	-	94	27082	c.26858A>G	c.(26857-26859)aAt>aGt	p.N8953S	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.N9270S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N8026S|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13098	Ig-like 72.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N8026S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACTATCATTAATATCAAC	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											83	85	84					2																	179576748		1836	4091	5927	179284993	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26858A>G	2.37:g.179576748T>C	ENSP00000465570:p.Asn8953Ser		179284993	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	8.675	0.903816	0.17760	.	.	ENSG00000155657	ENST00000342992	T	0.38077	1.16	5.47	0.137	0.14787	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15435	0.0372	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25502	-1.0130	9	0.87932	D	0	.	10.7416	0.46156	0.0:0.3223:0.0:0.6777	.	8953	Q8WZ42	TITIN_HUMAN	S	8026	ENSP00000343764:N8026S	ENSP00000343764:N8026S	N	-	2	0	TTN	179284993	0.000000	0.05858	0.042000	0.18584	0.980000	0.70556	0.020000	0.13466	-0.134000	0.11516	0.533000	0.62120	AAT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179576748	T	C	179576748	3	2	107	1	0	0	0	0	1	0	0	0	16735	1493	52	4	76788	4	TTN	2	179576748	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08	12426995	179576748	63622625	20	5701											
PPP1R7	5510	broad.mit.edu	37	2	242105809	242105809	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr2:242105809T>C	ENST00000234038.6	+	8	1246	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	PPP1R7_ENST00000406106.3_Missense_Mutation_p.Y258H|PPP1R7_ENST00000401987.1_Missense_Mutation_p.Y215H|PPP1R7_ENST00000407025.1_Missense_Mutation_p.Y258H|PPP1R7_ENST00000402734.1_Missense_Mutation_p.Y199H|PPP1R7_ENST00000404405.3_Missense_Mutation_p.Y252H|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Missense_Mutation_p.Y215H	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	258					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)	p.Y258H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GCGGGAGCTGTACCTTAGCCA	0.592																																					NSCLC(62;446 1299 5417 11238 27640)											1	Substitution - Missense(1)	ovary(1)	2											111	91	98					2																	242105809		2203	4300	6503	241754482	SO:0001583	missense	5510			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.772T>C	2.37:g.242105809T>C	ENSP00000234038:p.Tyr258His		241754482	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647181	0.87958	.	.	ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000406106;ENST00000401987	T;T;T;T;T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98	5.38	5.38	0.77491	.	0.110080	0.64402	D	0.000004	T	0.20820	0.0501	N	0.21448	0.665	0.80722	D	1	D;D;D;D;D;D	0.89917	0.978;0.997;1.0;0.997;0.985;0.996	P;D;D;D;P;D	0.91635	0.895;0.945;0.999;0.986;0.754;0.978	T	0.02683	-1.1124	10	0.52906	T	0.07	-10.1054	15.074	0.72063	0.0:0.0:0.0:1.0	.	242;199;215;258;258;252	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8	.;.;.;PP1R7_HUMAN;.;.	H	242;199;199;258;215;258;252;258;215	ENSP00000396376:Y242H;ENSP00000385012:Y199H;ENSP00000412092:Y199H;ENSP00000385657:Y258H;ENSP00000272983:Y215H;ENSP00000234038:Y258H;ENSP00000385498:Y252H;ENSP00000385022:Y258H;ENSP00000385466:Y215H	ENSP00000234038:Y258H	Y	+	1	0	PPP1R7	241754482	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.889000	0.87307	2.035000	0.60131	0.533000	0.62120	TAC		0.592	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		C	242105809	T	C	242105809	3	2	107	1	0	0	0	0	1	0	0	0	12379	1638	57	4	802	4	PPP1R7	2	242105809	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08	62529061	242105809	1093564	21	5702											
C3orf20	84077	broad.mit.edu	37	3	14724304	14724304	+	Silent	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr3:14724304C>A	ENST00000253697.3	+	3	536	c.84C>A	c.(82-84)ctC>ctA	p.L28L	C3orf20_ENST00000435614.1_Intron|C3orf20_ENST00000412910.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	28						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L28L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCTCCAAACTCCTCATGATCT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	3											110	118	116					3																	14724304		2203	4300	6503	14699308	SO:0001819	synonymous_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.84C>A	3.37:g.14724304C>A			14699308	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	CCDS33706.1																																																																																				0.473	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		A	14724304	C	A	14724304	2	1	107	1	0	0	0	0	0	0	0	1	2213	842	30	3		3	C3orf20	3	14724304	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08		14724304	183298126	22	5703											
SHQ1	55164	broad.mit.edu	37	3	72881527	72881527	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr3:72881527G>T	ENST00000325599.8	-	5	731	c.592C>A	c.(592-594)Cat>Aat	p.H198N	SHQ1_ENST00000463369.1_Missense_Mutation_p.H170N	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	198					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.H198N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CACAGATAATGATCAGGATCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	3											65	72	70					3																	72881527		2203	4300	6503	72964217	SO:0001583	missense	55164			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.592C>A	3.37:g.72881527G>T	ENSP00000315182:p.His198Asn		72964217	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605778	0.87157	.	.	ENSG00000144736	ENST00000325599;ENST00000463369;ENST00000482785	T;T;T	0.44482	0.92;0.92;0.92	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.71584	0.3357	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.74118	-0.3768	10	0.52906	T	0.07	-1.2867	19.1532	0.93499	0.0:0.0:1.0:0.0	.	198	Q6PI26	SHQ1_HUMAN	N	198;170;109	ENSP00000315182:H198N;ENSP00000417452:H170N;ENSP00000418398:H109N	ENSP00000315182:H198N	H	-	1	0	SHQ1	72964217	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.763000	0.85283	2.829000	0.97493	0.585000	0.79938	CAT		0.378	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		T	72881527	G	T	72881527	3	4	107	1	0	0	0	0	1	0	0	0	14295	1290	45	3	1169	3	SHQ1	3	72881527	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	58157223	72881527	125140903	23	5704											
BCHE	590	broad.mit.edu	37	3	165547890	165547890	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr3:165547890C>A	ENST00000264381.3	-	2	1098	c.932G>T	c.(931-933)gGg>gTg	p.G311V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	311					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.G311V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CAAAGGAGTCCCATAGGGGAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	3											45	49	48					3																	165547890		2202	4295	6497	167030584	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.932G>T	3.37:g.165547890C>A	ENSP00000264381:p.Gly311Val		167030584	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	0.270	-0.993690	0.02145	.	.	ENSG00000114200	ENST00000264381	D	0.95069	-3.6	5.29	-0.805	0.10879	Carboxylesterase, type B (1);	0.752409	0.13633	N	0.373588	D	0.86569	0.5964	L	0.28556	0.865	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.73418	-0.3989	10	0.30078	T	0.28	.	2.696	0.05135	0.129:0.433:0.1306:0.3074	.	311	P06276	CHLE_HUMAN	V	311	ENSP00000264381:G311V	ENSP00000264381:G311V	G	-	2	0	BCHE	167030584	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.025000	0.13577	-0.027000	0.13873	0.563000	0.77884	GGG		0.393	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			A	165547890	C	A	165547890	3	1	107	1	0	0	0	0	1	0	0	0	1358	623	22	3	888	3	BCHE	3	165547890	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	92666363	165547890	32474540	24	5705											
CPN2	1370	broad.mit.edu	37	3	194062783	194062783	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr3:194062783C>A	ENST00000323830.3	-	2	738	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	CPN2_ENST00000429275.1_Missense_Mutation_p.G217C	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	217					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.G217C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCAGGCTGCCCAGTTTGCCA	0.617																																																1	Substitution - Missense(1)	ovary(1)	3											43	47	46					3																	194062783		2203	4300	6503	195544478	SO:0001583	missense	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.649G>T	3.37:g.194062783C>A	ENSP00000319464:p.Gly217Cys		195544478	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587365	0.28268	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.24723	1.84;1.84	4.77	-0.731	0.11151	.	0.789668	0.10420	N	0.676826	T	0.19846	0.0477	L	0.55834	1.745	0.09310	N	1	B	0.26041	0.14	B	0.25759	0.063	T	0.28681	-1.0036	10	0.38643	T	0.18	.	2.938	0.05820	0.1119:0.3663:0.3278:0.194	.	217	P22792	CPN2_HUMAN	C	217	ENSP00000319464:G217C;ENSP00000402232:G217C	ENSP00000319464:G217C	G	-	1	0	CPN2	195544478	0.000000	0.05858	0.364000	0.25888	0.525000	0.34531	-1.390000	0.02528	-0.404000	0.07610	0.561000	0.74099	GGC		0.617	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		A	194062783	C	A	194062783	3	1	107	1	0	0	0	0	1	0	0	0	3810	623	22	3	992	3	CPN2	3	194062783	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	28514893	194062783	3959647	25	5706											
PIGZ	80235	broad.mit.edu	37	3	196678888	196678888	+	Silent	SNP	T	T	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr3:196678888T>A	ENST00000412723.1	-	2	161	c.15A>T	c.(13-15)ggA>ggT	p.G5G	PIGZ_ENST00000443835.1_Silent_p.G5G	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	5					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.G5G(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CTACGCTGGATCCACAGATCT	0.443																																																1	Substitution - coding silent(1)	ovary(1)	3											80	68	72					3																	196678888		2203	4300	6503	198163285	SO:0001819	synonymous_variant	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.15A>T	3.37:g.196678888T>A			198163285	Q9H9G6	Silent	SNP	ENST00000412723.1	37	CCDS3324.1																																																																																				0.443	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		A	196678888	T	A	196678888	2	1	107	1	0	0	0	0	0	0	0	1	11905	1422	50	5		5	PIGZ	3	196678888	Silent	SNP	T	TCGA-13-0904-01A-02W-0420-08	2616105	196678888	1343542	26	5707											
ATP10D	57205	broad.mit.edu	37	4	47559958	47559958	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr4:47559958A>T	ENST00000273859.3	+	12	2371	c.2102A>T	c.(2101-2103)gAt>gTt	p.D701V	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	701					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D701V(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAACACGGTGATGCAGGCCTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	4											63	59	61					4																	47559958		2203	4300	6503	47254715	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2102A>T	4.37:g.47559958A>T	ENSP00000273859:p.Asp701Val		47254715	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614513	0.28712	.	.	ENSG00000145246	ENST00000273859	T	0.38401	1.14	5.24	-0.403	0.12400	HAD-like domain (1);	1.212230	0.05511	N	0.560312	T	0.28863	0.0716	L	0.38175	1.15	0.09310	N	1	B	0.21225	0.053	B	0.27380	0.079	T	0.33189	-0.9878	10	0.31617	T	0.26	-1.3712	6.38	0.21529	0.5764:0.2558:0.1678:0.0	.	701	Q9P241	AT10D_HUMAN	V	701	ENSP00000273859:D701V	ENSP00000273859:D701V	D	+	2	0	ATP10D	47254715	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.022000	0.13511	0.071000	0.16664	0.459000	0.35465	GAT		0.587	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		T	47559958	A	T	47559958	3	4	107	1	0	0	0	0	1	0	0	0	1118	333	12	5	2144	5	ATP10D	4	47559958	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08		47559958	143594318	27	5708											
PPEF2	5470	broad.mit.edu	37	4	76797629	76797629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr4:76797629G>T	ENST00000286719.7	-	11	1487	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	377	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.C377*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGAACCGCTGCAGGGGATGC	0.662																																					NSCLC(105;1359 1603 15961 44567 47947)											1	Substitution - Nonsense(1)	ovary(1)	4											34	35	35					4																	76797629		2203	4300	6503	77016653	SO:0001587	stop_gained	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1131C>A	4.37:g.76797629G>T	ENSP00000286719:p.Cys377*		77016653	O14831	Nonsense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.965480	0.97151	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	.	.	.	5.02	2.32	0.28847	.	2.105260	0.01974	N	0.044318	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-8.0322	8.3212	0.32130	0.2726:0.0:0.7274:0.0	.	.	.	.	X	377	.	ENSP00000286719:C377X	C	-	3	2	PPEF2	77016653	0.987000	0.35691	0.269000	0.24586	0.128000	0.20619	1.954000	0.40362	0.159000	0.19401	-0.424000	0.05967	TGC		0.662	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		T	76797629	G	T	76797629	4	4	107	1	0	0	0	0	0	1	0	0	12308	1311	46	3	1158	3	PPEF2	4	76797629	Nonsense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	29237671	76797629	114356647	28	5709											
BMP3	651	broad.mit.edu	37	4	81967153	81967153	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr4:81967153A>G	ENST00000282701.2	+	2	898	c.578A>G	c.(577-579)gAt>gGt	p.D193G		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	193					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.D193G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCTCATCGAGATATTATGTCC	0.428																																																1	Substitution - Missense(1)	ovary(1)	4											138	147	144					4																	81967153		2203	4300	6503	82186177	SO:0001583	missense	651			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.578A>G	4.37:g.81967153A>G	ENSP00000282701:p.Asp193Gly		82186177	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422223	0.25639	.	.	ENSG00000152785	ENST00000282701	T	0.74421	-0.84	4.84	4.84	0.62591	Transforming growth factor-beta, N-terminal (1);	0.044027	0.85682	D	0.000000	D	0.82967	0.5152	M	0.70275	2.135	0.80722	D	1	D	0.67145	0.996	D	0.65684	0.937	T	0.81099	-0.1086	10	0.25751	T	0.34	.	14.5267	0.67894	1.0:0.0:0.0:0.0	.	193	P12645	BMP3_HUMAN	G	193	ENSP00000282701:D193G	ENSP00000282701:D193G	D	+	2	0	BMP3	82186177	1.000000	0.71417	0.827000	0.32855	0.003000	0.03518	6.834000	0.75339	2.173000	0.68751	0.533000	0.62120	GAT		0.428	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			G	81967153	A	G	81967153	3	3	107	1	0	0	0	0	1	0	0	0	1461	333	12	4	584	4	BMP3	4	81967153	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08	5169524	81967153	109187123	29	5710											
MMRN1	22915	broad.mit.edu	37	4	90816312	90816312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr4:90816312G>T	ENST00000394980.1	+	2	509	c.190G>T	c.(190-192)Gag>Tag	p.E64*	MMRN1_ENST00000394981.1_Nonsense_Mutation_p.E64*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.E64*			Q13201	MMRN1_HUMAN	multimerin 1	64					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.E64*(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CATGTCGGCGGAGATAGCTAC	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	4											65	68	67					4																	90816312		2203	4300	6503	91035335	SO:0001587	stop_gained	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.190G>T	4.37:g.90816312G>T	ENSP00000378431:p.Glu64*		91035335	Q4W5L1|Q6P3T8|Q6ZUL9	Nonsense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	37	6.201688	0.97371	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	.	.	.	4.67	1.95	0.26073	.	0.124430	0.35349	N	0.003261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.5262	0.16959	0.1884:0.1634:0.6481:0.0	.	.	.	.	X	64	.	ENSP00000264790:E64X	E	+	1	0	MMRN1	91035335	0.000000	0.05858	0.023000	0.16930	0.005000	0.04900	-0.055000	0.11807	0.250000	0.21479	0.563000	0.77884	GAG		0.463	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		T	90816312	G	T	90816312	4	4	107	1	0	0	0	0	0	1	0	0	9670	1175	41	3	192	3	MMRN1	4	90816312	Nonsense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	8849159	90816312	100337964	30	5711											
MMRN1	22915	broad.mit.edu	37	4	90874314	90874314	+	Silent	SNP	A	A	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr4:90874314A>G	ENST00000394980.1	+	9	3751	c.3432A>G	c.(3430-3432)gtA>gtG	p.V1144V	MMRN1_ENST00000394981.1_Silent_p.V447V|MMRN1_ENST00000508372.1_Silent_p.V886V|MMRN1_ENST00000264790.2_Silent_p.V1144V			Q13201	MMRN1_HUMAN	multimerin 1	1144	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.V1144V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATCTTGGAGTATATGTTTTCA	0.348																																																1	Substitution - coding silent(1)	ovary(1)	4											120	119	119					4																	90874314		2203	4300	6503	91093337	SO:0001819	synonymous_variant	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3432A>G	4.37:g.90874314A>G			91093337	Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	CCDS3635.1																																																																																				0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		G	90874314	A	G	90874314	2	3	107	1	0	0	0	0	0	0	0	1	9670	436	16	4		4	MMRN1	4	90874314	Silent	SNP	A	TCGA-13-0904-01A-02W-0420-08	58002	90874314	100279962	31	5712											
TNIP3	79931	broad.mit.edu	37	4	122068296	122068296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr4:122068296G>A	ENST00000509841.1	-	10	952	c.874C>T	c.(874-876)Cga>Tga	p.R292*	TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Nonsense_Mutation_p.R215*|TNIP3_ENST00000507879.1_Nonsense_Mutation_p.R285*|TNIP3_ENST00000454328.1_Nonsense_Mutation_p.R215*	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.R215*(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGATCCGATCGTTCCTTTTTG	0.373																																																1	Substitution - Nonsense(1)	ovary(1)	4											193	187	189					4																	122068296		2203	4300	6503	122287746	SO:0001587	stop_gained	79931			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.874C>T	4.37:g.122068296G>A	ENSP00000426613:p.Arg292*		122287746		Nonsense_Mutation	SNP	ENST00000509841.1	37	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	37	6.256847	0.97417	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	.	.	.	5.4	2.33	0.28932	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.629	13.3008	0.60324	0.0:0.0:0.3006:0.6994	.	.	.	.	X	215;215;285;292	.	ENSP00000057513:R215X	R	-	1	2	TNIP3	122287746	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	2.618000	0.46393	0.626000	0.30322	0.563000	0.77884	CGA		0.373	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		A	122068296	G	A	122068296	4	1	107	1	0	0	0	0	0	1	0	0	16316	1153	40	1	354	1	TNIP3	4	122068296	Nonsense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	31193982	122068296	69085980	32	5713											
FHDC1	85462	broad.mit.edu	37	4	153875436	153875436	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr4:153875436C>G	ENST00000511601.1	+	4	816	c.628C>G	c.(628-630)Cga>Gga	p.R210G	FHDC1_ENST00000260008.3_Missense_Mutation_p.R210G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	210	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.R210G(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGAGACCTTGCGAGAATTTCT	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											107	112	110					4																	153875436		2203	4300	6503	154094886	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.628C>G	4.37:g.153875436C>G	ENSP00000427567:p.Arg210Gly		154094886		Missense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602315	0.46423	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.62788	-0.0;-0.0	5.86	4.11	0.48088	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.297635	0.33457	N	0.004898	T	0.64360	0.2591	M	0.83223	2.63	0.29340	N	0.866077	P	0.41214	0.742	B	0.39094	0.29	T	0.66333	-0.5950	10	0.72032	D	0.01	.	11.1007	0.48172	0.1291:0.8045:0.0:0.0664	.	210	Q9C0D6	FHDC1_HUMAN	G	210	ENSP00000427567:R210G;ENSP00000260008:R210G	ENSP00000260008:R210G	R	+	1	2	FHDC1	154094886	1.000000	0.71417	0.705000	0.30386	0.670000	0.39368	2.200000	0.42724	0.804000	0.34136	0.650000	0.86243	CGA		0.363	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		G	153875436	C	G	153875436	3	3	107	1	0	0	0	0	1	0	0	0	5876	760	27	3	638	3	FHDC1	4	153875436	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	31807140	153875436	37278840	33	5714											
CPE	1363	broad.mit.edu	37	4	166405679	166405679	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr4:166405679C>A	ENST00000402744.4	+	5	1176	c.896C>A	c.(895-897)cCa>cAa	p.P299Q		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	299					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.P299Q(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AATCGGCCACCATGTCGCAAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	4											315	301	306					4																	166405679		2203	4300	6503	166625129	SO:0001583	missense	1363			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.896C>A	4.37:g.166405679C>A	ENSP00000386104:p.Pro299Gln		166625129	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898139	0.52227	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.20738	2.05	5.67	5.67	0.87782	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	M	0.64567	1.98	0.80722	D	1	D	0.65815	0.995	D	0.65773	0.938	T	0.12941	-1.0528	10	0.49607	T	0.09	-10.7722	20.1284	0.97992	0.0:1.0:0.0:0.0	.	299	P16870	CBPE_HUMAN	Q	299;263	ENSP00000386104:P299Q	ENSP00000261510:P263Q	P	+	2	0	CPE	166625129	1.000000	0.71417	0.207000	0.23584	0.057000	0.15508	7.228000	0.78079	2.829000	0.97493	0.650000	0.86243	CCA		0.537	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		A	166405679	C	A	166405679	3	1	107	1	0	0	0	0	1	0	0	0	3799	594	21	3	914	3	CPE	4	166405679	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	12530243	166405679	24748597	34	5715											
SEMA5A	9037	broad.mit.edu	37	5	9224934	9224934	+	Silent	SNP	C	C	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr5:9224934C>T	ENST00000382496.5	-	8	1163	c.498G>A	c.(496-498)caG>caA	p.Q166Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	166	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.Q166Q(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGGAATTGTGCTGGGGACTGT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	5											96	86	90					5																	9224934		2203	4300	6503	9277934	SO:0001819	synonymous_variant	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.498G>A	5.37:g.9224934C>T			9277934	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	8.429	0.848167	0.17034	.	.	ENSG00000112902	ENST00000514923	.	.	.	5.04	3.96	0.45880	.	.	.	.	.	T	0.58552	0.2130	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55444	-0.8140	4	.	.	.	.	9.2872	0.37764	0.0:0.8843:0.0:0.1157	.	.	.	.	T	114	.	.	A	-	1	0	SEMA5A	9277934	0.998000	0.40836	1.000000	0.80357	0.915000	0.54546	0.570000	0.23653	2.351000	0.79841	0.637000	0.83480	GCA		0.552	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9224934	C	T	9224934	2	4	107	1	0	0	0	0	0	0	0	1	14040	796	28	2		2	SEMA5A	5	9224934	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08		9224934	171690326	35	5716											
DNAH5	1767	broad.mit.edu	37	5	13769114	13769114	+	Silent	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr5:13769114C>A	ENST00000265104.4	-	58	9956	c.9852G>T	c.(9850-9852)ctG>ctT	p.L3284L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3284	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3284L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGCTGCTTCCAGTTTTTCTT	0.468									Kartagener syndrome																																							1	Substitution - coding silent(1)	ovary(1)	5											229	216	221					5																	13769114		2203	4300	6503	13822114	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9852G>T	5.37:g.13769114C>A			13822114	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13769114	C	A	13769114	2	1	107	1	0	0	0	0	0	0	0	1	4604	581	21	3		3	DNAH5	5	13769114	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08	4544180	13769114	167146146	36	5717											
DNAH5	1767	broad.mit.edu	37	5	13769233	13769233	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr5:13769233C>T	ENST00000265104.4	-	58	9837	c.9733G>A	c.(9733-9735)Gtg>Atg	p.V3245M	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3245	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V3245M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCATTGTCACTTCTTTTAAG	0.408									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											219	218	219					5																	13769233		2203	4300	6503	13822233	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9733G>A	5.37:g.13769233C>T	ENSP00000265104:p.Val3245Met		13822233	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966581	0.92855	.	.	ENSG00000039139	ENST00000265104	T	0.80566	-1.39	5.76	5.76	0.90799	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95022	0.8161	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	3245	Q8TE73	DYH5_HUMAN	M	3245	ENSP00000265104:V3245M	ENSP00000265104:V3245M	V	-	1	0	DNAH5	13822233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.639000	0.83342	2.882000	0.98803	0.655000	0.94253	GTG		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13769233	C	T	13769233	3	4	107	1	0	0	0	0	1	0	0	0	4604	565	20	2	4229	2	DNAH5	5	13769233	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	119	13769233	167146027	37	5718											
JAKMIP2	9832	broad.mit.edu	37	5	147051268	147051268	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr5:147051268C>G	ENST00000265272.5	-	2	569	c.102G>C	c.(100-102)caG>caC	p.Q34H	JAKMIP2_ENST00000333010.6_Intron|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q34H	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	34						Golgi apparatus (GO:0005794)		p.Q34H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTCTATCTGAATGTCTG	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											166	136	146					5																	147051268		2203	4300	6503	147031461	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.102G>C	5.37:g.147051268C>G	ENSP00000265272:p.Gln34His		147031461	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701930	0.68501	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000539401	T;T	0.36699	1.24;1.24	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.73962	2.25	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.988	D;D;D	0.72338	0.977;0.977;0.977	T	0.57516	-0.7798	10	0.72032	D	0.01	.	6.4753	0.22033	0.0:0.7654:0.0:0.2346	.	34;34;34	Q96AA8-3;G5E9Y0;Q96AA8	.;.;JKIP2_HUMAN	H	34	ENSP00000421398:Q34H;ENSP00000265272:Q34H	ENSP00000265272:Q34H	Q	-	3	2	JAKMIP2	147031461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.880000	0.48530	2.483000	0.83821	0.555000	0.69702	CAG		0.542	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		G	147051268	C	G	147051268	3	3	107	1	0	0	0	0	1	0	0	0	7941	912	32	3	2410	3	JAKMIP2	5	147051268	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	133282035	147051268	33863992	38	5719											
USP49	25862	broad.mit.edu	37	6	41771619	41771619	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr6:41771619G>A	ENST00000394253.3	-	4	1815	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	USP49_ENST00000373009.3_Missense_Mutation_p.L496F|USP49_ENST00000373010.1_Missense_Mutation_p.L496F|USP49_ENST00000297229.2_Missense_Mutation_p.L496F|USP49_ENST00000373006.1_Missense_Mutation_p.L496F			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	496	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L496F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATCTCAGTGAGCAAGCACTCT	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											120	115	117					6																	41771619		2203	4300	6503	41879597	SO:0001583	missense	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1486C>T	6.37:g.41771619G>A	ENSP00000377797:p.Leu496Phe		41879597	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	G	24.5	4.539674	0.85917	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.10192	3.54;3.54;3.54;2.9;2.9	5.66	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.86864	2.845	0.58432	D	0.999999	D	0.71674	0.998	D	0.74674	0.984	T	0.36648	-0.9739	10	0.87932	D	0	-12.9935	16.4713	0.84112	0.0:0.1314:0.8686:0.0	.	496	Q70CQ1-2	.	F	496	ENSP00000377797:L496F;ENSP00000362101:L496F;ENSP00000362100:L496F;ENSP00000362097:L496F;ENSP00000297229:L496F	ENSP00000297229:L496F	L	-	1	0	USP49	41879597	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	1.484000	0.48361	0.655000	0.94253	CTC		0.507	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		A	41771619	G	A	41771619	3	1	107	1	0	0	0	0	1	0	0	0	17080	971	34	2	448	2	USP49	6	41771619	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08		41771619	129343448	39	5720											
SUPT3H	8464	broad.mit.edu	37	6	44971495	44971495	+	Silent	SNP	T	T	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr6:44971495T>C	ENST00000371459.1	-	6	564	c.399A>G	c.(397-399)agA>agG	p.R133R	SUPT3H_ENST00000306867.5_Silent_p.R133R|SUPT3H_ENST00000371460.1_Silent_p.R144R|SUPT3H_ENST00000371461.2_Silent_p.R144R	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	215					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.R144R(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CAATCTTTTGTCTTTTGTTCG	0.343																																																1	Substitution - coding silent(1)	ovary(1)	6											152	134	140					6																	44971495		2202	4299	6501	45079473	SO:0001819	synonymous_variant	8464			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.399A>G	6.37:g.44971495T>C			45079473	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Silent	SNP	ENST00000371459.1	37	CCDS34465.1																																																																																				0.343	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		C	44971495	T	C	44971495	2	2	107	1	0	0	0	0	0	0	0	1	15397	1664	58	4		4	SUPT3H	6	44971495	Silent	SNP	T	TCGA-13-0904-01A-02W-0420-08	3199876	44971495	126143572	40	5721											
GRIK2	2898	broad.mit.edu	37	6	102266271	102266271	+	Silent	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr6:102266271C>G	ENST00000421544.1	+	9	1720	c.1230C>G	c.(1228-1230)ggC>ggG	p.G410G	GRIK2_ENST00000318991.6_Silent_p.G410G|GRIK2_ENST00000413795.1_Silent_p.G410G|GRIK2_ENST00000369134.4_Silent_p.G361G|GRIK2_ENST00000369138.1_Silent_p.G410G|GRIK2_ENST00000369137.3_Silent_p.G410G	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	410					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G410G(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CAGCCAGTGGCCTGAATATGA	0.398																																																2	Substitution - coding silent(2)	ovary(2)	6											173	154	161					6																	102266271		2203	4300	6503	102372964	SO:0001819	synonymous_variant	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1230C>G	6.37:g.102266271C>G			102372964	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	CCDS5048.1																																																																																				0.398	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			G	102266271	C	G	102266271	2	3	107	1	0	0	0	0	0	0	0	1	6774	726	26	3		3	GRIK2	6	102266271	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08	57294776	102266271	68848796	41	5722											
SAMD3	154075	broad.mit.edu	37	6	130476163	130476163	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr6:130476163G>A	ENST00000368134.2	-	11	1438	c.830C>T	c.(829-831)gCt>gTt	p.A277V	SAMD3_ENST00000439090.2_Missense_Mutation_p.A277V|SAMD3_ENST00000457563.2_Missense_Mutation_p.A301V|SAMD3_ENST00000437477.2_Missense_Mutation_p.A277V	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	277								p.A277V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AAAACAAACAGCTTCTTCCTG	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											100	93	95					6																	130476163		2203	4300	6503	130517856	SO:0001583	missense	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.830C>T	6.37:g.130476163G>A	ENSP00000357116:p.Ala277Val		130517856	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786038	0.31593	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.45276	0.91;0.9;0.91;0.91	5.41	-3.69	0.04450	.	1.479880	0.03799	N	0.264152	T	0.12008	0.0292	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	10	0.48119	T	0.1	.	1.0818	0.01644	0.2889:0.2063:0.3544:0.1504	.	277	Q8N6K7	SAMD3_HUMAN	V	277;301;277;277	ENSP00000357116:A277V;ENSP00000402092:A301V;ENSP00000403565:A277V;ENSP00000391163:A277V	ENSP00000357116:A277V	A	-	2	0	SAMD3	130517856	0.001000	0.12720	0.051000	0.19133	0.913000	0.54294	0.000000	0.12993	-0.420000	0.07427	0.563000	0.77884	GCT		0.353	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		A	130476163	G	A	130476163	3	1	107	1	0	0	0	0	1	0	0	0	13823	971	34	2	748	2	SAMD3	6	130476163	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	28209892	130476163	40638904	42	5723											
IYD	389434	broad.mit.edu	37	6	150690326	150690326	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr6:150690326C>A	ENST00000344419.3	+	1	299	c.159C>A	c.(157-159)gaC>gaA	p.D53E	IYD_ENST00000392256.2_Missense_Mutation_p.D53E|IYD_ENST00000229447.5_Missense_Mutation_p.D53E|IYD_ENST00000500320.3_Missense_Mutation_p.D53E|IYD_ENST00000425615.3_5'Flank|IYD_ENST00000392255.3_Missense_Mutation_p.D53E	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	53					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.D53E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ACAGCAGTGACCTGCACCAAG	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											63	62	62					6																	150690326		2203	4300	6503	150732019	SO:0001583	missense	389434			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.159C>A	6.37:g.150690326C>A	ENSP00000343763:p.Asp53Glu		150732019	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	C	4.387	0.071437	0.08436	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320	D;T;D;D;D	0.86097	-2.07;-0.35;-1.96;-2.0;-2.03	5.14	-8.26	0.01021	.	0.486110	0.22047	N	0.065376	T	0.39279	0.1072	N	0.22421	0.69	0.28104	N	0.931299	B;B;B	0.17038	0.007;0.02;0.002	B;B;B	0.21151	0.002;0.033;0.005	T	0.53711	-0.8400	10	0.08381	T	0.77	-9.5621	3.4875	0.07625	0.1016:0.1327:0.2888:0.4768	.	53;53;53	C9JFW2;Q6PHW0-3;Q6PHW0	.;.;IYD1_HUMAN	E	53	ENSP00000229447:D53E;ENSP00000343763:D53E;ENSP00000376085:D53E;ENSP00000376084:D53E;ENSP00000441276:D53E	ENSP00000229447:D53E	D	+	3	2	IYD	150732019	0.000000	0.05858	0.000000	0.03702	0.508000	0.34012	-1.907000	0.01589	-1.375000	0.02129	-0.300000	0.09419	GAC		0.502	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		A	150690326	C	A	150690326	3	1	107	1	0	0	0	0	1	0	0	0	7932	506	18	3	161	3	IYD	6	150690326	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	20214163	150690326	20424741	43	5724											
KIF25	3834	broad.mit.edu	37	6	168430274	168430274	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr6:168430274G>T	ENST00000443060.2	+	3	400	c.9G>T	c.(7-9)tgG>tgT	p.W3C	KIF25_ENST00000351261.3_Missense_Mutation_p.W3C|KIF25_ENST00000354419.2_Missense_Mutation_p.W3C			Q9UIL4	KIF25_HUMAN	kinesin family member 25	3					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W3C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGATGACATGGACCTCAGGTC	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											125	118	120					6																	168430274		2203	4300	6503	168173123	SO:0001583	missense	3834			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.9G>T	6.37:g.168430274G>T	ENSP00000388878:p.Trp3Cys		168173123	O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	g	0.307	-0.970285	0.02232	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.73258	-0.73;-0.73;0.07	0.598	-0.648	0.11464	.	0.000000	0.46758	U	0.000269	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	P;P	0.37525	0.553;0.598	B;B	0.28011	0.085;0.022	T	0.43988	-0.9357	8	.	.	.	.	.	.	.	.	3;3	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	C	3	ENSP00000388878:W3C;ENSP00000346401:W3C;ENSP00000252688:W3C	.	W	+	3	0	KIF25	168173123	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.811000	0.04500	-1.214000	0.02614	-1.478000	0.00992	TGG		0.617	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			T	168430274	G	T	168430274	3	4	107	1	0	0	0	0	1	0	0	0	8293	1183	41	3	11	3	KIF25	6	168430274	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	17739948	168430274	2684793	44	5725											
HECW1	23072	broad.mit.edu	37	7	43495970	43495970	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr7:43495970C>G	ENST00000395891.2	+	13	3180	c.2575C>G	c.(2575-2577)Cgt>Ggt	p.R859G	HECW1_ENST00000453890.1_Missense_Mutation_p.R825G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	859	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R838G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACCTGGCAGCGTCCGACGGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											60	61	61					7																	43495970		1962	4146	6108	43462495	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2575C>G	7.37:g.43495970C>G	ENSP00000379228:p.Arg859Gly		43462495	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426253	0.83667	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84298	-1.83;-1.83	6.06	5.16	0.70880	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.93523	0.7933	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.982	D	0.94629	0.7820	10	0.72032	D	0.01	.	16.6144	0.84903	0.1311:0.8689:0.0:0.0	.	825;859	B4DH42;Q76N89	.;HECW1_HUMAN	G	859;825;859	ENSP00000379228:R859G;ENSP00000407774:R825G	ENSP00000265522:R859G	R	+	1	0	HECW1	43462495	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	3.097000	0.50251	1.524000	0.49035	0.655000	0.94253	CGT		0.557	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		G	43495970	C	G	43495970	3	3	107	1	0	0	0	0	1	0	0	0	7042	768	27	3	2617	3	HECW1	7	43495970	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08		43495970	115642693	45	5726											
BUD31	8896	broad.mit.edu	37	7	99008722	99008722	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr7:99008722A>G	ENST00000403633.2	+	3	536	c.7A>G	c.(7-9)Aaa>Gaa	p.K3E	BUD31_ENST00000222969.5_Missense_Mutation_p.K3E|PDAP1_ENST00000350498.3_5'Flank|BUD31_ENST00000456893.1_Missense_Mutation_p.K3E|snoU13_ENST00000458831.1_RNA			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	3					regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K3E(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAATGCCTAAAGTCAAAAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	7											50	57	55					7																	99008722		2203	4300	6503	98846658	SO:0001583	missense	8896			BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"G10 maternal transcript homolog (Xenopus laevis)", "functional spliceosome-associated protein 17"	603477	"BUD31 homolog (yeast)"			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.7A>G	7.37:g.99008722A>G	ENSP00000386023:p.Lys3Glu		98846658	A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Missense_Mutation	SNP	ENST00000403633.2	37	CCDS5663.1	.	.	.	.	.	.	.	.	.	.	A	34	5.308516	0.95629	.	.	ENSG00000106245	ENST00000403633;ENST00000222969;ENST00000456893	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.80824	0.4697	M	0.88775	2.98	0.80722	D	1	D;P	0.59357	0.985;0.846	P;P	0.62435	0.902;0.79	D	0.84752	0.0757	9	0.66056	D	0.02	-26.8115	15.5153	0.75818	1.0:0.0:0.0:0.0	.	3;3	B7Z4S9;P41223	.;BUD31_HUMAN	E	3	.	ENSP00000222969:K3E	K	+	1	0	BUD31	98846658	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.636000	0.91010	2.063000	0.61619	0.533000	0.62120	AAA		0.448	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336275.1	NM_003910		G	99008722	A	G	99008722	3	3	107	1	0	0	0	0	1	0	0	0	1574	363	13	4	9	4	BUD31	7	99008722	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08	55512752	99008722	60129941	46	5727											
MUC17	140453	broad.mit.edu	37	7	100682335	100682335	+	Silent	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr7:100682335G>A	ENST00000306151.4	+	3	7702	c.7638G>A	c.(7636-7638)gtG>gtA	p.V2546V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2546	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.V2546V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAGTCCTGTGGTCACTTCTA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	7											246	250	249					7																	100682335		2203	4300	6503	100469055	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7638G>A	7.37:g.100682335G>A			100469055	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100682335	G	A	100682335	2	1	107	1	0	0	0	0	0	0	0	1	9974	1335	47	2		2	MUC17	7	100682335	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08	1673613	100682335	58456328	47	5728											
KCND2	3751	broad.mit.edu	37	7	119915388	119915388	+	Silent	SNP	G	G	T	rs141583673		TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr7:119915388G>T	ENST00000331113.4	+	1	1667	c.702G>T	c.(700-702)acG>acT	p.T234T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	234					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.T234T(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCTTGGACACGGCCTGCGTCA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	7											151	127	135					7																	119915388		2203	4300	6503	119702624	SO:0001819	synonymous_variant	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.702G>T	7.37:g.119915388G>T			119702624	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	CCDS5776.1																																																																																				0.537	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		T	119915388	G	T	119915388	2	4	107	1	0	0	0	0	0	0	0	1	8019	1103	39	3		3	KCND2	7	119915388	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08	19233053	119915388	39223275	48	5729											
SGK223	157285	broad.mit.edu	37	8	8197043	8197043	+	Silent	SNP	G	G	A	rs56187292		TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr8:8197043G>A	ENST00000520004.1	-	4	2529	c.2265C>T	c.(2263-2265)acC>acT	p.T755T	SGK223_ENST00000330777.4_Silent_p.T755T			Q86YV5	SG223_HUMAN		757							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.T757T(1)|p.T755T(1)									CCGTGGAGCCGGTGGTGAAGC	0.532																																					GBM(34;731 755 10259 33573 33867)											2	Substitution - coding silent(2)	ovary(2)	8											72	84	80					8																	8197043		2092	4206	6298	8234453	SO:0001819	synonymous_variant	157285																														ENST00000520004.1:c.2265C>T	8.37:g.8197043G>A			8234453	Q8N3N5	Silent	SNP	ENST00000520004.1	37	CCDS43706.1																																																																																				0.532	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8197043	G	A	8197043	2	1	107	1	0	0	0	0	0	0	0	1	14213	1103	39	1		1	SGK223	8	8197043	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08		8197043	138166979	49	5730											
MYST3	7994	broad.mit.edu	37	8	41832337	41832337	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr8:41832337T>C	ENST00000396930.3	-	9	1910	c.1367A>G	c.(1366-1368)aAt>aGt	p.N456S	KAT6A_ENST00000265713.2_Missense_Mutation_p.N456S|KAT6A_ENST00000485568.1_Missense_Mutation_p.N456S|KAT6A_ENST00000406337.1_Missense_Mutation_p.N456S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	456	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N456S(1)									GCCATCCTGATTGTCTACATA	0.348																																																1	Substitution - Missense(1)	ovary(1)	8											85	80	82					8																	41832337		2203	4300	6503	41951494	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1367A>G	8.37:g.41832337T>C	ENSP00000380136:p.Asn456Ser		41951494	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009031	0.54361	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.83419	0.29;0.29;0.29;-1.72	5.68	5.68	0.88126	.	0.268590	0.37261	N	0.002177	D	0.88108	0.6348	L	0.53249	1.67	0.54753	D	0.99998	D;D	0.69078	0.993;0.997	D;D	0.75020	0.956;0.985	D	0.85411	0.1137	10	0.21014	T	0.42	-16.7418	15.9723	0.80031	0.0:0.0:0.0:1.0	.	456;456	A5PLL3;Q92794	.;KAT6A_HUMAN	S	456	ENSP00000265713:N456S;ENSP00000385888:N456S;ENSP00000380136:N456S;ENSP00000430606:N456S	ENSP00000265713:N456S	N	-	2	0	KAT6A	41951494	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.367000	0.79558	2.169000	0.68431	0.529000	0.55759	AAT		0.348	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		C	41832337	T	C	41832337	3	2	107	1	0	0	0	0	1	0	0	0	10104	1493	52	4	4687	4	MYST3	8	41832337	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08	33635294	41832337	104531685	50	5731											
FANCG	2189	broad.mit.edu	37	9	35076001	35076001	+	Silent	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr9:35076001G>A	ENST00000378643.3	-	9	1592	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	367					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.Y367Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCAGGTCCAAGTAATGCTCTG	0.562			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	1	Substitution - coding silent(1)	ovary(1)	9											131	129	130					9																	35076001		2203	4300	6503	35066001	SO:0001819	synonymous_variant	2189			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1101C>T	9.37:g.35076001G>A			35066001		Silent	SNP	ENST00000378643.3	37	CCDS6574.1																																																																																				0.562	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		A	35076001	G	A	35076001	2	1	107	1	0	0	0	0	0	0	0	1	5668	1024	36	2		2	FANCG	9	35076001	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08		35076001	106137430	51	5732											
TLN1	7094	broad.mit.edu	37	9	35724624	35724624	+	Silent	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr9:35724624C>A	ENST00000314888.9	-	5	809	c.456G>T	c.(454-456)ctG>ctT	p.L152L	TLN1_ENST00000540444.1_Silent_p.L152L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	152	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.L152L(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCATCTCGCAGCAATGTCT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	9											310	286	294					9																	35724624		2203	4300	6503	35714624	SO:0001819	synonymous_variant	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.456G>T	9.37:g.35724624C>A			35714624	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	CCDS35009.1																																																																																				0.408	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		A	35724624	C	A	35724624	2	1	107	1	0	0	0	0	0	0	0	1	15947	697	25	3		3	TLN1	9	35724624	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08	648623	35724624	105488807	52	5733											
TMEM2	23670	broad.mit.edu	37	9	74305103	74305103	+	Silent	SNP	C	C	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr9:74305103C>T	ENST00000377044.4	-	22	4295	c.3756G>A	c.(3754-3756)ccG>ccA	p.P1252P	TMEM2_ENST00000396272.3_Silent_p.P245P|TMEM2_ENST00000377066.5_Silent_p.P1189P	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1252					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P1252P(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GAACGCTGCACGGATCCACAA	0.468																																																1	Substitution - coding silent(1)	ovary(1)	9											125	103	111					9																	74305103		2203	4300	6503	73494923	SO:0001819	synonymous_variant	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3756G>A	9.37:g.74305103C>T			73494923	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	CCDS6638.1																																																																																				0.468	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		T	74305103	C	T	74305103	2	4	107	1	0	0	0	0	0	0	0	1	16121	523	19	1		1	TMEM2	9	74305103	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08	38580479	74305103	66908328	53	5734											
PRUNE2	158471	broad.mit.edu	37	9	79321991	79321991	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr9:79321991C>G	ENST00000376718.3	-	8	5322	c.5199G>C	c.(5197-5199)aaG>aaC	p.K1733N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.K1374N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1733					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.K1733N(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATTTTCAGACTTAGGATCAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	9											160	130	139					9																	79321991		1568	3582	5150	78511811	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5199G>C	9.37:g.79321991C>G	ENSP00000365908:p.Lys1733Asn		78511811	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.116|1.116	-0.656594|-0.656594	0.03480|0.03480	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.47528|.	0.84;0.84|.	5.91|5.91	-4.72|-4.72	0.03269|0.03269	.|.	0.892392|.	0.09628|.	N|.	0.776668|.	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.26018|0.26018	-1.0115|-1.0115	10|5	0.20519|.	T|.	0.43|.	-2.2955|-2.2955	3.6648|3.6648	0.08252|0.08252	0.1121:0.1578:0.4753:0.2549|0.1121:0.1578:0.4753:0.2549	.|.	1733|.	Q8WUY3|.	PRUN2_HUMAN|.	N|L	1733;1374;1732|1055	ENSP00000365908:K1733N;ENSP00000397425:K1374N|.	ENSP00000365908:K1733N|.	K|V	-|-	3|1	2|0	PRUNE2|PRUNE2	78511811|78511811	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.260000|0.260000	0.26232|0.26232	-1.325000|-1.325000	0.02687|0.02687	-0.708000|-0.708000	0.05015|0.05015	0.655000|0.655000	0.94253|0.94253	AAG|GTC		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		G	79321991	C	G	79321991	3	3	107	1	0	0	0	0	1	0	0	0	12644	564	20	3	4115	3	PRUNE2	9	79321991	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	5016888	79321991	61891440	54	5735											
PRTFDC1	56952	broad.mit.edu	37	10	25160959	25160959	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr10:25160959C>T	ENST00000320152.6	-	4	401	c.373G>A	c.(373-375)Gga>Aga	p.G125R	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.G125R	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	125					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.G125R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCATCGCCTCCGATTATCTGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	10											276	237	250					10																	25160959		2203	4300	6503	25200965	SO:0001583	missense	56952			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.373G>A	10.37:g.25160959C>T	ENSP00000318602:p.Gly125Arg		25200965	B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887726	0.72410	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378	D;D	0.99319	-5.74;-5.74	5.7	4.8	0.61643	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.81914	0.5;0.995	D	0.99421	1.0933	10	0.26408	T	0.33	.	10.6276	0.45516	0.0:0.9119:0.0:0.0881	.	125;125	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	R	125	ENSP00000318602:G125R;ENSP00000365558:G125R	ENSP00000318602:G125R	G	-	1	0	PRTFDC1	25200965	0.987000	0.35691	0.956000	0.39512	0.875000	0.50365	2.977000	0.49297	1.414000	0.47017	0.655000	0.94253	GGA		0.453	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		T	25160959	C	T	25160959	3	4	107	1	0	0	0	0	1	0	0	0	12640	661	23	1	328	1	PRTFDC1	10	25160959	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08		25160959	110373788	55	5736											
ANKRD30A	91074	broad.mit.edu	37	10	37430846	37430846	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr10:37430846T>A	ENST00000602533.1	+	7	952	c.853T>A	c.(853-855)Tgt>Agt	p.C285S	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.C285S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C285S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	341					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C285S(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAAATTCAATGTTTGGAGAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	10											74	75	75					10																	37430846		1885	4127	6012	37470852	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.853T>A	10.37:g.37430846T>A	ENSP00000473551:p.Cys285Ser		37470852	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	0.248	-1.008562	0.02112	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	0.627	-0.672	0.11377	.	.	.	.	.	T	0.10637	0.0260	L	0.40543	1.245	0.09310	N	1	P	0.50156	0.932	P	0.60789	0.879	T	0.30179	-0.9987	8	0.24483	T	0.36	.	.	.	.	.	341	Q9BXX3	AN30A_HUMAN	S	285	ENSP00000354432:C285S;ENSP00000363792:C285S	ENSP00000354432:C285S	C	+	1	0	ANKRD30A	37470852	0.177000	0.23109	0.001000	0.08648	0.008000	0.06430	0.269000	0.18589	-0.275000	0.09219	0.321000	0.21382	TGT		0.448	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		A	37430846	T	A	37430846	3	1	107	1	0	0	0	0	1	0	0	0	658	1464	51	5	879	5	ANKRD30A	10	37430846	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08	12269887	37430846	98103901	56	5737											
SLC18A3	6572	broad.mit.edu	37	10	50820329	50820329	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr10:50820329C>G	ENST00000374115.3	+	1	1983	c.1543C>G	c.(1543-1545)Cct>Gct	p.P515A	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	515					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.P515A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TCGCAGCCCGCCTGGCCCTTT	0.642																																																1	Substitution - Missense(1)	ovary(1)	10											56	64	62					10																	50820329		2201	4296	6497	50490335	SO:0001583	missense	6572			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1543C>G	10.37:g.50820329C>G	ENSP00000363229:p.Pro515Ala		50490335	B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861143	0.32884	.	.	ENSG00000187714	ENST00000374115	T	0.03831	3.79	4.72	2.87	0.33458	.	0.291902	0.29009	U	0.013423	T	0.01592	0.0051	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47699	-0.9097	10	0.06365	T	0.9	-0.1354	5.6125	0.17414	0.0:0.6045:0.2137:0.1818	.	515	Q16572	VACHT_HUMAN	A	515	ENSP00000363229:P515A	ENSP00000363229:P515A	P	+	1	0	SLC18A3	50490335	0.005000	0.15991	0.004000	0.12327	0.354000	0.29330	0.337000	0.19841	0.430000	0.26230	0.555000	0.69702	CCT		0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		G	50820329	C	G	50820329	3	3	107	1	0	0	0	0	1	0	0	0	14430	739	26	3	1545	3	SLC18A3	10	50820329	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	13389483	50820329	84714418	57	5738											
MYOZ1	58529	broad.mit.edu	37	10	75393678	75393678	+	Silent	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr10:75393678G>T	ENST00000359322.4	-	5	1012	c.648C>A	c.(646-648)ccC>ccA	p.P216P	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1									p.P216P(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					ACTTATATTTGGGAAGTTCAG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	10											175	163	167					10																	75393678		2203	4300	6503	75063684	SO:0001819	synonymous_variant	58529			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.648C>A	10.37:g.75393678G>T			75063684		Silent	SNP	ENST00000359322.4	37	CCDS7330.1																																																																																				0.488	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			T	75393678	G	T	75393678	2	4	107	1	0	0	0	0	0	0	0	1	10095	1335	47	3		3	MYOZ1	10	75393678	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08	24573349	75393678	60141069	58	5739											
ELOVL3	83401	broad.mit.edu	37	10	103988950	103988950	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr10:103988950C>A	ENST00000370005.3	+	4	975	c.754C>A	c.(754-756)Cac>Aac	p.H252N		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	252					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.H252N(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCTCTTTGCCCACTTCTTCTG	0.498																																																1	Substitution - Missense(1)	ovary(1)	10											171	153	159					10																	103988950		2203	4300	6503	103978940	SO:0001583	missense	83401			AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.754C>A	10.37:g.103988950C>A	ENSP00000359022:p.His252Asn		103978940	Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905928	0.17760	.	.	ENSG00000119915	ENST00000370005	T	0.19669	2.13	5.44	2.41	0.29592	.	0.557127	0.17281	N	0.180003	T	0.12347	0.0300	N	0.25031	0.7	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30179	-0.9987	10	0.02654	T	1	-15.6472	14.3255	0.66518	0.6084:0.3916:0.0:0.0	.	252	Q9HB03	ELOV3_HUMAN	N	252	ENSP00000359022:H252N	ENSP00000359022:H252N	H	+	1	0	ELOVL3	103978940	0.000000	0.05858	0.065000	0.19835	0.227000	0.25037	-0.343000	0.07791	0.634000	0.30469	0.650000	0.86243	CAC		0.498	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		A	103988950	C	A	103988950	3	1	107	1	0	0	0	0	1	0	0	0	5075	594	21	3	768	3	ELOVL3	10	103988950	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	28595272	103988950	31545797	59	5740											
DCHS1	8642	broad.mit.edu	37	11	6652957	6652957	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr11:6652957G>T	ENST00000299441.3	-	7	3976	c.3565C>A	c.(3565-3567)Cca>Aca	p.P1189T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1189	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1189T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCGGGGTGGGCTCCCTCCA	0.617																																																1	Substitution - Missense(1)	ovary(1)	11											62	53	56					11																	6652957		2201	4296	6497	6609533	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3565C>A	11.37:g.6652957G>T	ENSP00000299441:p.Pro1189Thr		6609533	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319905	0.60634	.	.	ENSG00000166341	ENST00000299441	T	0.01665	4.7	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.44688	D	0.000425	T	0.13286	0.0322	M	0.87682	2.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.00160	-1.1973	10	0.62326	D	0.03	.	17.9063	0.88919	0.0:0.0:1.0:0.0	.	1189	Q96JQ0	PCD16_HUMAN	T	1189	ENSP00000299441:P1189T	ENSP00000299441:P1189T	P	-	1	0	DCHS1	6609533	1.000000	0.71417	0.976000	0.42696	0.461000	0.32589	7.251000	0.78297	2.711000	0.92665	0.655000	0.94253	CCA		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6652957	G	T	6652957	3	4	107	1	0	0	0	0	1	0	0	0	4287	1232	43	3	6391	3	DCHS1	11	6652957	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08		6652957	128353559	60	5741											
DDB2	1643	broad.mit.edu	37	11	47256952	47256952	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr11:47256952A>C	ENST00000256996.4	+	7	1207	c.1012A>C	c.(1012-1014)Aca>Cca	p.T338P	DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.T274P	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	338					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.T338P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CCAGCACCTCACACCCATCAA	0.627			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	1	Substitution - Missense(1)	ovary(1)	11											51	44	46					11																	47256952		2201	4298	6499	47213528	SO:0001583	missense	1643	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"WD repeat domain containing"	2718	protein-coding gene	gene with protein product	"xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit"	600811	"damage-specific DNA binding protein 2 (48kD)"			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1012A>C	11.37:g.47256952A>C	ENSP00000256996:p.Thr338Pro		47213528	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580029	0.86645	.	.	ENSG00000134574	ENST00000256996;ENST00000378603	T;T	0.74632	-0.86;2.89	5.85	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.042196	0.85682	D	0.000000	D	0.84515	0.5489	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.976	D	0.85394	0.1127	10	0.72032	D	0.01	-26.4236	11.8955	0.52654	0.932:0.0:0.068:0.0	.	274;338	Q92466-4;Q92466	.;DDB2_HUMAN	P	338;274	ENSP00000256996:T338P;ENSP00000367866:T274P	ENSP00000256996:T338P	T	+	1	0	DDB2	47213528	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	7.153000	0.77428	1.038000	0.40049	0.533000	0.62120	ACA		0.627	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		C	47256952	A	C	47256952	3	2	107	1	0	0	0	0	1	0	0	0	4324	159	6	5	1038	5	DDB2	11	47256952	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08	40603995	47256952	87749564	61	5742											
VWF	7450	broad.mit.edu	37	12	6184517	6184517	+	Silent	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr12:6184517G>A	ENST00000261405.5	-	7	1112	c.858C>T	c.(856-858)acC>acT	p.T286T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	286					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.T286T(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGCTGTGGTCGGTCCAGCCGT	0.682																																																1	Substitution - coding silent(1)	ovary(1)	12											62	53	56					12																	6184517		2203	4300	6503	6054778	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.858C>T	12.37:g.6184517G>A			6054778	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.682	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6184517	G	A	6184517	2	1	107	1	0	0	0	0	0	0	0	1	17246	1103	39	1		1	VWF	12	6184517	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08		6184517	127667378	62	5743											
KRT6C	286887	broad.mit.edu	37	12	52863578	52863578	+	Silent	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr12:52863578G>A	ENST00000252250.6	-	7	1347	c.1300C>T	c.(1300-1302)Ctg>Ttg	p.L434L		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	434	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.L434L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCCTTCTGCAGGGCATCCTCC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	12											76	62	66					12																	52863578		2203	4291	6494	51149845	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1300C>T	12.37:g.52863578G>A			51149845	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.597	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		A	52863578	G	A	52863578	2	1	107	1	0	0	0	0	0	0	0	1	8482	991	35	2		2	KRT6C	12	52863578	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08	46679061	52863578	80988317	63	5744											
C12orf66	144577	broad.mit.edu	37	12	64609703	64609703	+	Silent	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr12:64609703G>A	ENST00000398055.3	-	2	329	c.276C>T	c.(274-276)acC>acT	p.T92T	C12orf66_ENST00000544871.1_Silent_p.T39T|C12orf66_ENST00000311915.8_Silent_p.T92T	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	92								p.T92T(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AAGTATAGATGGTGCGGATGG	0.507																																																1	Substitution - coding silent(1)	ovary(1)	12											49	52	51					12																	64609703		2006	4172	6178	62895970	SO:0001819	synonymous_variant	144577				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.276C>T	12.37:g.64609703G>A			62895970	C9JX54|Q8IYA0	Silent	SNP	ENST00000398055.3	37	CCDS41803.1																																																																																				0.507	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		A	64609703	G	A	64609703	2	1	107	1	0	0	0	0	0	0	0	1	1709	1335	47	2		2	C12orf66	12	64609703	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08	11746125	64609703	69242192	64	5745											
SACS	26278	broad.mit.edu	37	13	23912946	23912946	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr13:23912946A>T	ENST00000382292.3	-	9	5342	c.5069T>A	c.(5068-5070)gTa>gAa	p.V1690E	SACS_ENST00000382298.3_Missense_Mutation_p.V1690E|SACS_ENST00000402364.1_Missense_Mutation_p.V940E			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1690					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.V1543E(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATTGACTTTACACTCTGAGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	13											62	62	62					13																	23912946		2203	4299	6502	22810946	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5069T>A	13.37:g.23912946A>T	ENSP00000371729:p.Val1690Glu		22810946	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290309	0.40494	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.94576	-3.46;-3.46;-3.46	5.54	5.54	0.83059	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	M	0.69823	2.125	0.54753	D	0.999988	D	0.89917	1.0	D	0.83275	0.996	D	0.97443	1.0023	10	0.87932	D	0	.	15.6797	0.77357	1.0:0.0:0.0:0.0	.	1690	Q9NZJ4	SACS_HUMAN	E	1690;940;1690	ENSP00000371729:V1690E;ENSP00000385844:V940E;ENSP00000371735:V1690E	ENSP00000371729:V1690E	V	-	2	0	SACS	22810946	1.000000	0.71417	0.900000	0.35374	0.025000	0.11179	8.946000	0.92992	2.110000	0.64415	0.496000	0.49642	GTA		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		T	23912946	A	T	23912946	3	4	107	1	0	0	0	0	1	0	0	0	13807	391	14	5	8674	5	SACS	13	23912946	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08		23912946	91256932	65	5746											
ATP8A2	51761	broad.mit.edu	37	13	26144928	26144928	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr13:26144928G>T	ENST00000381655.2	+	17	1639	c.1497G>T	c.(1495-1497)gaG>gaT	p.E499D	ATP8A2_ENST00000255283.8_Missense_Mutation_p.E459D|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	459					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E499D(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCATTCAGGAGTTCCTCACCC	0.567																																																1	Substitution - Missense(1)	ovary(1)	13											99	100	100					13																	26144928		2083	4214	6297	25042928	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1497G>T	13.37:g.26144928G>T	ENSP00000371070:p.Glu499Asp		25042928	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886737	0.51908	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.63913	-0.07;-0.07	4.82	3.97	0.46021	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	L	0.50993	1.605	0.53005	D	0.999967	B;P;D;B	0.69078	0.163;0.552;0.997;0.163	B;P;D;B	0.68039	0.33;0.447;0.955;0.33	T	0.68603	-0.5365	10	0.49607	T	0.09	.	8.5203	0.33270	0.1793:0.0:0.8207:0.0	.	459;279;459;459	B7Z880;F5GZN5;Q9NTI2-3;Q9NTI2	.;.;.;AT8A2_HUMAN	D	499;459;279	ENSP00000371070:E499D;ENSP00000255283:E459D	ENSP00000255283:E459D	E	+	3	2	ATP8A2	25042928	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.040000	0.57333	1.237000	0.43756	0.563000	0.77884	GAG		0.567	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		T	26144928	G	T	26144928	3	4	107	1	0	0	0	0	1	0	0	0	1193	1020	36	3	1563	3	ATP8A2	13	26144928	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	2231982	26144928	89024950	66	5747											
INTS6	26512	broad.mit.edu	37	13	51948392	51948392	+	Missense_Mutation	SNP	T	T	C	rs572515264	byFrequency	TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr13:51948392T>C	ENST00000311234.4	-	15	2528	c.2056A>G	c.(2056-2058)Aca>Gca	p.T686A	INTS6_ENST00000398119.2_Missense_Mutation_p.T673A|INTS6_ENST00000490542.1_Missense_Mutation_p.T370A|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.T508A|INTS6_ENST00000425000.1_Missense_Mutation_p.T254A	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	686					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.T686A(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GCTTGAGTTGTAGGTGCAGGT	0.398													T|||	7	0.00139776	0	0	5008	,	,		17970	0.0069		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	13											180	168	172					13																	51948392		2203	4300	6503	50846393	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2056A>G	13.37:g.51948392T>C	ENSP00000310260:p.Thr686Ala		50846393	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	T	3.688	-0.064033	0.07273	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.68	-7.27	0.01461	.	1.787830	0.01831	N	0.034689	T	0.14830	0.0358	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27571	-1.0070	9	0.07030	T	0.85	3.9647	7.5755	0.27933	0.0:0.4151:0.2327:0.3522	.	686	Q9UL03	INT6_HUMAN	A	686;673;508;254;370	.	ENSP00000310260:T686A	T	-	1	0	INTS6	50846393	0.000000	0.05858	0.013000	0.15412	0.341000	0.28922	-0.374000	0.07484	-1.465000	0.01899	-0.326000	0.08463	ACA		0.398	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		C	51948392	T	C	51948392	3	2	107	1	0	0	0	0	1	0	0	0	7782	1638	57	4	623	4	INTS6	13	51948392	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08	25803464	51948392	63221486	67	5748											
GRK1	6011	broad.mit.edu	37	13	114324122	114324122	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr13:114324122G>T	ENST00000335678.6	+	2	1052	c.820G>T	c.(820-822)Gac>Tac	p.D274Y		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.K40N(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAACGGAGGTGACATCAGGTA	0.587																																																1	Substitution - Missense(1)	ovary(1)	13											90	89	89					13																	114324122		1973	4161	6134	113372123	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.820G>T	13.37:g.114324122G>T	ENSP00000334876:p.Asp274Tyr		113372123	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37		.	.	.	.	.	.	.	.	.	.	g	16.17	3.046393	0.55110	.	.	ENSG00000185974	ENST00000335678	T	0.29655	1.56	4.36	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049439	0.85682	D	0.000000	T	0.56470	0.1987	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63301	-0.6668	9	0.87932	D	0	-40.1128	14.7555	0.69560	0.0:0.0:1.0:0.0	.	274	Q15835	RK_HUMAN	Y	274	ENSP00000334876:D274Y	ENSP00000334876:D274Y	D	+	1	0	GRK1	113372123	1.000000	0.71417	0.469000	0.27204	0.317000	0.28152	6.714000	0.74692	2.131000	0.65755	0.511000	0.50034	GAC		0.587	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		T	114324122	G	T	114324122	3	4	107	1	0	0	0	0	1	0	0	0	6790	1290	45	3	826	3	GRK1	13	114324122	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	62375730	114324122	845756	68	5749											
LRRC16B	90668	broad.mit.edu	37	14	24531755	24531755	+	Silent	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr14:24531755C>G	ENST00000342740.5	+	28	2701	c.2547C>G	c.(2545-2547)ctC>ctG	p.L849L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	849						cytoplasm (GO:0005737)		p.L849L(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGCAAGAGCTCTACCATTCCC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	14											133	125	127					14																	24531755		2203	4300	6503	23601595	SO:0001819	synonymous_variant	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2547C>G	14.37:g.24531755C>G			23601595	Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	CCDS32054.1																																																																																				0.562	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		G	24531755	C	G	24531755	2	3	107	1	0	0	0	0	0	0	0	1	8972	900	32	3		3	LRRC16B	14	24531755	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08		24531755	82817785	69	5750											
C14orf135	64430	broad.mit.edu	37	14	60591812	60591812	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr14:60591812G>C	ENST00000406854.1	+	9	3477	c.2923G>C	c.(2923-2925)Gta>Cta	p.V975L	PCNXL4_ENST00000317623.4_Missense_Mutation_p.V741L|PCNXL4_ENST00000406949.1_Missense_Mutation_p.V741L|PCNXL4_ENST00000535349.1_Missense_Mutation_p.V182L|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V975L			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	975						integral component of membrane (GO:0016021)		p.V741L(1)									TGTTCATACAGTAATGACTTG	0.363																																																1	Substitution - Missense(1)	ovary(1)	14											84	87	86					14																	60591812		2202	4300	6502	59661565	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2923G>C	14.37:g.60591812G>C	ENSP00000384801:p.Val975Leu		59661565	A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	G	13.37	2.217945	0.39201	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.39787	1.64;1.64;1.58;1.64;1.06	4.91	4.91	0.64330	.	0.244211	0.41500	D	0.000864	T	0.33847	0.0877	L	0.47716	1.5	0.44247	D	0.997091	B;B	0.30281	0.071;0.275	B;B	0.29785	0.077;0.107	T	0.14364	-1.0475	10	0.35671	T	0.21	.	8.7123	0.34391	0.0806:0.1528:0.7665:0.0	.	975;741	Q63HM2;B5MC47	CN135_HUMAN;.	L	741;975;741;975;182	ENSP00000317396:V741L;ENSP00000384801:V975L;ENSP00000385201:V741L;ENSP00000385713:V975L;ENSP00000445644:V182L	ENSP00000317396:V741L	V	+	1	0	C14orf135	59661565	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	5.105000	0.64591	2.422000	0.82143	0.305000	0.20034	GTA		0.363	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		C	60591812	G	C	60591812	3	2	107	1	0	0	0	0	1	0	0	0	1745	1029	36	3	2247	3	C14orf135	14	60591812	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	36060057	60591812	46757728	70	5751											
SPTB	6710	broad.mit.edu	37	14	65260199	65260199	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr14:65260199G>C	ENST00000389721.5	-	13	2214	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	SPTB_ENST00000389720.3_Missense_Mutation_p.L728V|SPTB_ENST00000556626.1_Missense_Mutation_p.L728V|SPTB_ENST00000542895.1_Missense_Mutation_p.L728V|SPTB_ENST00000389722.3_Missense_Mutation_p.L728V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	728					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.L728V(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGTCCTTCAGCTGGTCCCAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	14											56	53	54					14																	65260199		2203	4300	6503	64329952	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2182C>G	14.37:g.65260199G>C	ENSP00000374371:p.Leu728Val		64329952	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709179	0.68615	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	4.69	3.79	0.43588	.	0.000000	0.64402	D	0.000002	D	0.83908	0.5356	M	0.92026	3.265	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.79108	0.991;0.992	D	0.86827	0.2008	10	0.87932	D	0	.	12.4302	0.55569	0.0853:0.0:0.9147:0.0	.	728;732	P11277;Q59FP5	SPTB1_HUMAN;.	V	732;728;728;728;728;728	ENSP00000374372:L728V;ENSP00000451752:L728V;ENSP00000374371:L728V;ENSP00000443882:L728V;ENSP00000374370:L728V	ENSP00000374370:L728V	L	-	1	2	SPTB	64329952	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.926000	0.48892	1.074000	0.40909	0.561000	0.74099	CTG		0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			C	65260199	G	C	65260199	3	2	107	1	0	0	0	0	1	0	0	0	15120	962	34	3	4965	3	SPTB	14	65260199	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	4668387	65260199	42089341	71	5752											
PTPN21	11099	broad.mit.edu	37	14	88936359	88936359	+	Silent	SNP	G	G	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr14:88936359G>C	ENST00000556564.1	-	16	3191	c.2907C>G	c.(2905-2907)gcC>gcG	p.A969A	PTPN21_ENST00000328736.3_Silent_p.A969A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	969	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.A969A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCCTGTGTGGCAATATAAT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	14											111	106	108					14																	88936359		2203	4300	6503	88006112	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2907C>G	14.37:g.88936359G>C			88006112		Silent	SNP	ENST00000556564.1	37	CCDS9884.1																																																																																				0.398	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			C	88936359	G	C	88936359	2	2	107	1	0	0	0	0	0	0	0	1	12789	1335	47	3		3	PTPN21	14	88936359	Silent	SNP	G	TCGA-13-0904-01A-02W-0420-08	23676160	88936359	18413181	72	5753											
IGDCC4	57722	broad.mit.edu	37	15	65702612	65702612	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr15:65702612T>A	ENST00000352385.2	-	3	676	c.467A>T	c.(466-468)gAg>gTg	p.E156V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	156	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E156V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGTCCCGTTCTCCTCCACCGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	15											81	71	74					15																	65702612		2201	4299	6500	63489665	SO:0001583	missense	57722				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.467A>T	15.37:g.65702612T>A	ENSP00000319623:p.Glu156Val		63489665	Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.764297	0.49574	.	.	ENSG00000103742	ENST00000352385	T	0.78924	-1.22	5.48	3.0	0.34707	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.564774	0.18012	N	0.154509	T	0.62514	0.2434	L	0.37561	1.115	0.29990	N	0.816946	B	0.11235	0.004	B	0.19666	0.026	T	0.50591	-0.8810	10	0.02654	T	1	-27.7544	9.0984	0.36653	0.2922:0.0:0.0:0.7078	.	156	Q8TDY8	IGDC4_HUMAN	V	156	ENSP00000319623:E156V	ENSP00000319623:E156V	E	-	2	0	IGDCC4	63489665	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.721000	0.25911	0.897000	0.36392	-0.333000	0.08304	GAG		0.577	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		A	65702612	T	A	65702612	3	1	107	1	0	0	0	0	1	0	0	0	7569	1551	54	5	3357	5	IGDCC4	15	65702612	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08		65702612	36828780	73	5754											
LASS3	204219	broad.mit.edu	37	15	101024822	101024822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr15:101024822C>A	ENST00000394113.1	-	7	1030	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	CERS3_ENST00000538112.2_Nonsense_Mutation_p.E114*|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Nonsense_Mutation_p.E114*			Q8IU89	CERS3_HUMAN	ceramide synthase 3	114					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.E114*(1)									AACCATCTTTCCACCTGGCGC	0.468																																																1	Substitution - Nonsense(1)	ovary(1)	15											86	71	76					15																	101024822		2203	4300	6503	98842345	SO:0001587	stop_gained	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.340G>T	15.37:g.101024822C>A	ENSP00000377672:p.Glu114*		98842345	Q8NE64|Q8NEN6	Nonsense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	40	8.151437	0.98678	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	.	.	.	5.26	5.26	0.73747	.	0.049616	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.801	17.6304	0.88104	0.0:1.0:0.0:0.0	.	.	.	.	X	114;125;114	.	ENSP00000284382:E114X	E	-	1	0	CERS3	98842345	0.996000	0.38824	0.965000	0.40720	0.994000	0.84299	3.004000	0.49513	2.448000	0.82819	0.655000	0.94253	GAA		0.468	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		A	101024822	C	A	101024822	4	1	107	1	0	0	0	0	0	1	0	0	8640	864	30	3	843	3	LASS3	15	101024822	Nonsense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	35322210	101024822	1506570	74	5755											
ZG16B	124220	broad.mit.edu	37	16	2881990	2881990	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr16:2881990T>C	ENST00000382280.3	+	4	536	c.457T>C	c.(457-459)Tcc>Ccc	p.S153P	ZG16B_ENST00000572863.1_Missense_Mutation_p.S123P	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	153					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.S153P(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGCCAGATCTCCTCTGCCTA	0.512																																																1	Substitution - Missense(1)	ovary(1)	16											63	67	66					16																	2881990		1959	4160	6119	2821991	SO:0001583	missense	124220			BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"jacalin-like lectin domain containing 2"		"zymogen granule protein 16 homolog B (rat)"			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.457T>C	16.37:g.2881990T>C	ENSP00000371715:p.Ser153Pro		2821991	A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	37	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	t	11.79	1.742925	0.30865	.	.	ENSG00000162078	ENST00000382280	T	0.30182	1.54	3.28	3.28	0.37604	Mannose-binding lectin (3);	0.240617	0.21735	N	0.069917	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.26708	0.157	B	0.28305	0.088	T	0.16897	-1.0387	10	0.72032	D	0.01	-39.7456	8.3184	0.32115	0.0:0.0:0.0:1.0	.	153	Q96DA0	ZG16B_HUMAN	P	153	ENSP00000371715:S153P	ENSP00000371715:S153P	S	+	1	0	ZG16B	2821991	0.036000	0.19791	0.003000	0.11579	0.104000	0.19210	1.720000	0.38022	1.746000	0.51805	0.454000	0.30748	TCC		0.512	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		C	2881990	T	C	2881990	3	2	107	1	0	0	0	0	1	0	0	0	17672	1551	54	4	471	4	ZG16B	16	2881990	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08		2881990	87472763	75	5756											
MMP2	4313	broad.mit.edu	37	16	55525730	55525730	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr16:55525730G>C	ENST00000219070.4	+	8	1707	c.1198G>C	c.(1198-1200)Gtg>Ctg	p.V400L	MMP2_ENST00000437642.2_Missense_Mutation_p.V350L|MMP2_ENST00000543485.1_Missense_Mutation_p.V324L|MMP2_ENST00000570308.1_Missense_Mutation_p.V324L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	400	Collagenase-like 2.		Missing (in MONA). {ECO:0000269|PubMed:16542393}.		angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.V400L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CCTGTTCCTCGTGGCAGCCCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	16											66	63	64					16																	55525730		2198	4300	6498	54083231	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1198G>C	16.37:g.55525730G>C	ENSP00000219070:p.Val400Leu		54083231	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036122	0.93630	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	D;D;D	0.82984	-1.67;-1.67;-1.67	4.93	4.93	0.64822	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91600	0.7346	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	D	0.92751	0.6216	10	0.87932	D	0	.	18.5104	0.90914	0.0:0.0:1.0:0.0	.	350;400	E9PE45;P08253	.;MMP2_HUMAN	L	400;324;350	ENSP00000219070:V400L;ENSP00000444143:V324L;ENSP00000394237:V350L	ENSP00000219070:V400L	V	+	1	0	MMP2	54083231	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	9.813000	0.99286	2.442000	0.82660	0.467000	0.42956	GTG		0.577	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			C	55525730	G	C	55525730	3	2	107	1	0	0	0	0	1	0	0	0	9658	1145	40	3	1235	3	MMP2	16	55525730	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	52643740	55525730	34829023	76	5757											
RLTPR	146206	broad.mit.edu	37	16	67682009	67682009	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr16:67682009G>C	ENST00000334583.6	+	14	1454	c.1126G>C	c.(1126-1128)Ggc>Cgc	p.G376R	RLTPR_ENST00000545661.1_Missense_Mutation_p.G376R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	376					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.G376R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GAATCTCGCAGGCACCGACAC	0.672																																																1	Substitution - Missense(1)	ovary(1)	16											40	43	42					16																	67682009		2081	4183	6264	66239510	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1126G>C	16.37:g.67682009G>C	ENSP00000334958:p.Gly376Arg		66239510	B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042409	0.93685	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.54479	0.57;2.46	4.67	2.61	0.31194	.	0.280410	0.34580	N	0.003851	T	0.60702	0.2289	L	0.58669	1.825	0.29243	N	0.872492	D;D	0.67145	0.974;0.996	P;D	0.64687	0.694;0.928	T	0.54840	-0.8233	10	0.46703	T	0.11	-14.2749	7.0258	0.24940	0.0894:0.0:0.7415:0.1691	.	376;376	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	R	376	ENSP00000334958:G376R;ENSP00000441481:G376R	ENSP00000334958:G376R	G	+	1	0	RLTPR	66239510	0.869000	0.29996	0.989000	0.46669	0.826000	0.46750	2.112000	0.41892	0.962000	0.38057	0.462000	0.41574	GGC		0.672	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		C	67682009	G	C	67682009	3	2	107	1	0	0	0	0	1	0	0	0	13397	1000	35	3	1180	3	RLTPR	16	67682009	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	12156279	67682009	22672744	77	5758											
TP53	7157	broad.mit.edu	37	17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr17:7577102C>T	ENST00000269305.4	-	8	1025	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000420246.2_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	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	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CCGGTCTCTCCCAGGACAGGC	0.547		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"	60	Substitution - Missense(36)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	upper_aerodigestive_tract(16)|urinary_tract(8)|oesophagus(7)|breast(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|skin(4)|large_intestine(3)|central_nervous_system(3)|ovary(2)|stomach(1)|lung(1)|liver(1)	17											75	65	68					17																	7577102		2203	4300	6503	7517827	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.836G>A	17.37:g.7577102C>T	ENSP00000269305:p.Gly279Glu		7517827	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753775	0.89753	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	4.16	0.48862	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	0.99883	0.9944	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;0.999;1.0	D	0.96457	0.9338	10	0.87932	D	0	-22.6503	11.5187	0.50539	0.0:0.9131:0.0:0.0869	.	279;279;279;279	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	279;279;279;279;279;268;147	ENSP00000352610:G279E;ENSP00000269305:G279E;ENSP00000398846:G279E;ENSP00000391127:G279E;ENSP00000391478:G279E;ENSP00000425104:G147E	ENSP00000269305:G279E	G	-	2	0	TP53	7517827	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.862000	0.69560	1.390000	0.46547	0.462000	0.41574	GGG		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577102	C	T	7577102	3	4	107	1	0	0	0	0	1	0	0	0	16381	623	22	2	450	2	TP53	17	7577102	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08		7577102	73618108	78	5759											
UNC45B	146862	broad.mit.edu	37	17	33482456	33482456	+	Silent	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr17:33482456C>A	ENST00000268876.5	+	7	878	c.781C>A	c.(781-783)Cga>Aga	p.R261R	UNC45B_ENST00000394570.2_Silent_p.R261R|UNC45B_ENST00000433649.1_Silent_p.R261R|UNC45B_ENST00000591048.1_Silent_p.R261R|UNC45B_ENST00000378449.1_Silent_p.R261R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	261					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R261R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCGGGAGCATCGAGGGAAGGA	0.527																																																1	Substitution - coding silent(1)	ovary(1)	17											205	144	165					17																	33482456		2203	4300	6503	30506569	SO:0001819	synonymous_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.781C>A	17.37:g.33482456C>A			30506569	Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																				0.527	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33482456	C	A	33482456	2	1	107	1	0	0	0	0	0	0	0	1	16989	876	31	3		3	UNC45B	17	33482456	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08	25905354	33482456	47712754	79	5760											
UNC45B	146862	broad.mit.edu	37	17	33513323	33513323	+	Silent	SNP	C	C	A	rs201746299		TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr17:33513323C>A	ENST00000268876.5	+	20	2638	c.2541C>A	c.(2539-2541)acC>acA	p.T847T	UNC45B_ENST00000394570.2_Silent_p.T845T|UNC45B_ENST00000433649.1_Silent_p.T845T|UNC45B_ENST00000591048.1_Silent_p.T766T|UNC45B_ENST00000378449.1_Silent_p.T766T|RP11-799D4.2_ENST00000590144.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	847					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T847T(2)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCCAGACAACCCAGTGGTTGG	0.557													C|||	1	0.000199681	0	0	5008	,	,		20301	0.001		0	False		,,,				2504	0															2	Substitution - coding silent(2)	ovary(1)|lung(1)	17											77	78	78					17																	33513323		2203	4300	6503	30537436	SO:0001819	synonymous_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2541C>A	17.37:g.33513323C>A			30537436	Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																				0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33513323	C	A	33513323	2	1	107	1	0	0	0	0	0	0	0	1	16989	610	22	3		3	UNC45B	17	33513323	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08	30867	33513323	47681887	80	5761											
HNF1B	6928	broad.mit.edu	37	17	36070539	36070549	+	Frame_Shift_Del	DEL	TGGCCTGGGTC	TGGCCTGGGTC	-			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	TGGCCTGGGTC	TGGCCTGGGTC	-	-	TGGCCTGGGTC	TGGCCTGGGTC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr17:36070539_36070549delTGGCCTGGGTC	ENST00000225893.4	-	5	1529_1539	c.1168_1178delGACCCAGGCCA	c.(1168-1179)gacccaggccacfs	p.DPGH390fs	HNF1B_ENST00000560016.1_Frame_Shift_Del_p.DPGH390fs|HNF1B_ENST00000427275.2_Frame_Shift_Del_p.DPGH364fs|HNF1B_ENST00000561193.1_Frame_Shift_Del_p.DPGH364fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	390					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D390fs*6(1)|p.S388fs*4(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAGGAGATTGTGGCCTGGGTCCAGGCTGGCT	0.502																																					Colon(71;102 1179 9001 27917 43397)											2	Deletion - Frameshift(2)	ovary(1)|liver(1)	17																																								33144662	SO:0001589	frameshift_variant	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1168_1178delGACCCAGGCCA	17.37:g.36070539_36070549delTGGCCTGGGTC	ENSP00000225893:p.Asp390fs		33144652	B4DKM3|E0YMJ9	Frame_Shift_Del	DEL	ENST00000225893.4	37	CCDS11324.1																																																																																				0.502	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		-	36070549	TGGCCTGGGTC	-	36070539	7	5	107	1	0	1	0	1	0	0	0	0	7252	1696	59	0	515	0	HNF1B	17	36070539	Frame_Shift_Del	DEL	TGGCCTGGGTC	TCGA-13-0904-01A-02W-0420-08	2557216	36070539	45124671	81	5762											
MGAT5B	146664	broad.mit.edu	37	17	74878254	74878254	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr17:74878254G>A	ENST00000569840.2	+	3	777	c.203G>A	c.(202-204)cGc>cAc	p.R68H	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.R79H|MGAT5B_ENST00000565675.1_Missense_Mutation_p.R68H|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R68H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	68					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.R68H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGAGTCCCGCGGCGTCCTG	0.682																																																1	Substitution - Missense(1)	ovary(1)	17											26	25	25					17																	74878254		2200	4291	6491	72389849	SO:0001583	missense	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.203G>A	17.37:g.74878254G>A	ENSP00000456037:p.Arg68His		72389849	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441158	0.83993	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.58797	0.33;0.31	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	L	0.54323	1.7	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.68036	-0.5515	10	0.35671	T	0.21	-18.8997	14.2918	0.66284	0.0:0.0:1.0:0.0	.	79;68	Q3V5L5-2;Q3V5L5-5	.;.	H	68;68;79	ENSP00000301618:R68H;ENSP00000391227:R79H	ENSP00000301618:R68H	R	+	2	0	MGAT5B	72389849	1.000000	0.71417	0.943000	0.38184	0.538000	0.34931	7.814000	0.86154	2.428000	0.82296	0.561000	0.74099	CGC		0.682	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		A	74878254	G	A	74878254	3	1	107	1	0	0	0	0	1	0	0	0	9549	1087	38	1	314	1	MGAT5B	17	74878254	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	38807715	74878254	6316956	82	5763											
USP14	9097	broad.mit.edu	37	18	198094	198094	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr18:198094T>G	ENST00000261601.7	+	9	814	c.723T>G	c.(721-723)agT>agG	p.S241R	USP14_ENST00000383589.2_Missense_Mutation_p.S195R|USP14_ENST00000400266.3_Missense_Mutation_p.S230R|USP14_ENST00000582707.1_Missense_Mutation_p.S206R	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	241	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S241R(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AAAAGAAAAGTTTAATCGATC	0.318																																																1	Substitution - Missense(1)	ovary(1)	18											71	73	72					18																	198094		2203	4300	6503	188094	SO:0001583	missense	9097			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.723T>G	18.37:g.198094T>G	ENSP00000261601:p.Ser241Arg		188094	J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865123	0.51482	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.35605	1.3;1.3	6.17	0.576	0.17380	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.037204	0.85682	D	0.000000	T	0.42494	0.1205	M	0.69523	2.12	0.52501	D	0.999958	B;B;B	0.21309	0.054;0.053;0.03	B;B;B	0.37387	0.248;0.089;0.114	T	0.39901	-0.9591	10	0.52906	T	0.07	-15.6353	11.1506	0.48455	0.0:0.4556:0.0:0.5444	.	230;206;241	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	R	241;206;230	ENSP00000261601:S241R;ENSP00000383125:S230R	ENSP00000261601:S241R	S	+	3	2	USP14	188094	0.998000	0.40836	0.997000	0.53966	0.993000	0.82548	0.512000	0.22755	-0.112000	0.11979	-0.274000	0.10170	AGT		0.318	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		G	198094	T	G	198094	3	3	107	1	0	0	0	0	1	0	0	0	17045	1722	60	5	757	5	USP14	18	198094	Missense_Mutation	SNP	T	TCGA-13-0904-01A-02W-0420-08		198094	77879154	83	5764											
CEP192	55125	broad.mit.edu	37	18	13056284	13056284	+	Missense_Mutation	SNP	C	C	G	rs73950982		TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr18:13056284C>G	ENST00000325971.8	+	17	3500	c.1907C>G	c.(1906-1908)aCa>aGa	p.T636R	CEP192_ENST00000506447.1_Missense_Mutation_p.T1232R|CEP192_ENST00000430049.2_Missense_Mutation_p.T757R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	636					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.T636R(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCAGCAGCACAGTTCACAGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	18											66	59	62					18																	13056284		2203	4300	6503	13046284	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1907C>G	18.37:g.13056284C>G	ENSP00000317156:p.Thr636Arg		13046284	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	C	5.768	0.326163	0.10900	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.05447	3.44;3.44;3.44	5.01	-1.88	0.07713	.	3.214460	0.01250	N	0.008857	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B;B;B	0.18968	0.013;0.013;0.032	B;B;B	0.15870	0.004;0.005;0.014	T	0.34502	-0.9826	10	0.14656	T	0.56	9.7209	2.0793	0.03631	0.5175:0.2275:0.0897:0.1653	.	757;1232;636	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	R	1232;636;636;757	ENSP00000427550:T1232R;ENSP00000317156:T636R;ENSP00000389190:T757R	ENSP00000317156:T636R	T	+	2	0	CEP192	13046284	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.193000	0.17116	-0.551000	0.06175	0.655000	0.94253	ACA		0.517	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		G	13056284	C	G	13056284	3	3	107	1	0	0	0	0	1	0	0	0	3251	478	17	3	3765	3	CEP192	18	13056284	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	12858190	13056284	65020964	84	5765											
CCBE1	147372	broad.mit.edu	37	18	57107037	57107037	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr18:57107037G>T	ENST00000439986.4	-	8	824	c.787C>A	c.(787-789)Cca>Aca	p.P263T	CCBE1_ENST00000398179.2_Intron	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	263	Collagen-like 1.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.P263T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTTCCCTTTGGTCCTGGTGAG	0.597																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)											1	Substitution - Missense(1)	ovary(1)	18											34	39	37					18																	57107037		2203	4300	6503	55258017	SO:0001583	missense	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.787C>A	18.37:g.57107037G>T	ENSP00000404464:p.Pro263Thr		55258017	Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335323	0.60853	.	.	ENSG00000183287	ENST00000439986	T	0.78481	-1.18	4.22	4.22	0.49857	.	0.155765	0.64402	D	0.000017	D	0.84606	0.5509	L	0.55834	1.745	0.80722	D	1	D;D	0.71674	0.986;0.998	D;D	0.68943	0.922;0.961	D	0.86669	0.1909	10	0.72032	D	0.01	-2.5783	15.7832	0.78281	0.0:0.0:1.0:0.0	.	263;72	Q6UXH8;Q6UXH8-3	CCBE1_HUMAN;.	T	263	ENSP00000404464:P263T	ENSP00000404464:P263T	P	-	1	0	CCBE1	55258017	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.961000	0.93122	2.049000	0.60858	0.650000	0.86243	CCA		0.597	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		T	57107037	G	T	57107037	3	4	107	1	0	0	0	0	1	0	0	0	2731	1261	44	3	449	3	CCBE1	18	57107037	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	44050753	57107037	20970211	85	5766											
SERPINB5	5268	broad.mit.edu	37	18	61170746	61170746	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr18:61170746A>T	ENST00000382771.4	+	7	1211	c.919A>T	c.(919-921)Atg>Ttg	p.M307L		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	307					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M307L(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTTCTCTGGAATGTCAGAGAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	18											96	82	87					18																	61170746		2203	4300	6503	59321726	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.919A>T	18.37:g.61170746A>T	ENSP00000372221:p.Met307Leu		59321726	B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673665	0.47781	.	.	ENSG00000206075	ENST00000382771	D	0.84146	-1.81	5.95	3.42	0.39159	Serpin domain (3);	0.211041	0.49305	D	0.000145	T	0.76292	0.3967	L	0.35341	1.055	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74917	-0.3501	10	0.66056	D	0.02	.	9.64	0.39833	0.7218:0.1722:0.0:0.1059	.	307	P36952	SPB5_HUMAN	L	307	ENSP00000372221:M307L	ENSP00000372221:M307L	M	+	1	0	SERPINB5	59321726	0.995000	0.38212	1.000000	0.80357	0.970000	0.65996	3.365000	0.52335	2.285000	0.76669	0.533000	0.62120	ATG		0.433	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		T	61170746	A	T	61170746	3	4	107	1	0	0	0	0	1	0	0	0	14107	101	4	5	941	5	SERPINB5	18	61170746	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08	4063709	61170746	16906502	86	5767											
CD97	976	broad.mit.edu	37	19	14508896	14508896	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr19:14508896A>T	ENST00000242786.5	+	9	922	c.842A>T	c.(841-843)aAa>aTa	p.K281I	CD97_ENST00000357355.3_Missense_Mutation_p.K232I|CD97_ENST00000358600.3_Missense_Mutation_p.K188I	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	281					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.K281I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTCTTCGACAAAGTCCAGGAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	19											70	68	69					19																	14508896		2203	4300	6503	14369896	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.842A>T	19.37:g.14508896A>T	ENSP00000242786:p.Lys281Ile		14369896	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.647013	0.67358	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.72615	-0.67;-0.57;-0.18	4.4	-1.56	0.08532	.	0.976965	0.08318	N	0.964375	T	0.72779	0.3503	L	0.46157	1.445	0.09310	N	1	D;D;B	0.55800	0.973;0.973;0.06	P;P;B	0.59825	0.807;0.864;0.065	T	0.62826	-0.6772	10	0.31617	T	0.26	.	8.5643	0.33530	0.6194:0.0:0.3806:0.0	.	188;232;281	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	I	281;232;188;231	ENSP00000242786:K281I;ENSP00000349918:K232I;ENSP00000351413:K188I	ENSP00000242786:K281I	K	+	2	0	CD97	14369896	0.001000	0.12720	0.013000	0.15412	0.293000	0.27360	-0.278000	0.08490	-0.469000	0.06911	0.459000	0.35465	AAA		0.582	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		T	14508896	A	T	14508896	3	4	107	1	0	0	0	0	1	0	0	0	3049	14	1	5	876	5	CD97	19	14508896	Missense_Mutation	SNP	A	TCGA-13-0904-01A-02W-0420-08		14508896	44620087	87	5768											
AP2A1	160	broad.mit.edu	37	19	50295254	50295254	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr19:50295254C>T	ENST00000359032.5	+	5	536	c.536C>T	c.(535-537)tCg>tTg	p.S179L	AP2A1_ENST00000354293.5_Missense_Mutation_p.S179L|AP2A1_ENST00000600199.1_3'UTR	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	179					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.S179L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TACAAGGCCTCGCCTGACCTG	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											70	80	76					19																	50295254		2178	4259	6437	54987066	SO:0001583	missense	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.536C>T	19.37:g.50295254C>T	ENSP00000351926:p.Ser179Leu		54987066	Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163622	0.38217	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.27557	1.66;1.66	5.01	5.01	0.66863	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.37630	1.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12915	-1.0529	10	0.11794	T	0.64	.	17.1021	0.86652	0.0:1.0:0.0:0.0	.	179;179	O95782-2;O95782	.;AP2A1_HUMAN	L	179	ENSP00000346246:S179L;ENSP00000351926:S179L	ENSP00000346246:S179L	S	+	2	0	AP2A1	54987066	1.000000	0.71417	0.993000	0.49108	0.068000	0.16541	7.818000	0.86416	2.334000	0.79466	0.655000	0.94253	TCG		0.642	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			T	50295254	C	T	50295254	3	4	107	1	0	0	0	0	1	0	0	0	739	893	31	1	554	1	AP2A1	19	50295254	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	35786358	50295254	8833729	88	5769											
FPR2	2358	broad.mit.edu	37	19	52272397	52272397	+	Silent	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr19:52272397C>G	ENST00000598776.1	+	2	1258	c.486C>G	c.(484-486)ctC>ctG	p.L162L	FPR2_ENST00000598953.1_Silent_p.L162L|FPR2_ENST00000340023.6_Silent_p.L162L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	162					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.L162L(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAGTTTTCCTCTTTTTGACTA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	19											125	118	120					19																	52272397		2203	4300	6503	56964209	SO:0001819	synonymous_variant	2358			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.486C>G	19.37:g.52272397C>G			56964209	A8K3E2	Silent	SNP	ENST00000598776.1	37	CCDS12840.1																																																																																				0.507	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		G	52272397	C	G	52272397	2	3	107	1	0	0	0	0	0	0	0	1	6039	900	32	3		3	FPR2	19	52272397	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08	1977143	52272397	6856586	89	5770											
SIGLEC1	6614	broad.mit.edu	37	20	3674093	3674093	+	Splice_Site	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr20:3674093C>A	ENST00000344754.4	-	13	3508		c.e13+1		SIGLEC1_ENST00000202578.4_Splice_Site	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin						cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCAGACTCACAGAGGACGTC	0.647																																																1	Unknown(1)	ovary(1)	20											27	32	30					20																	3674093		2202	4300	6502	3622093	SO:0001630	splice_region_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3508+1G>T	20.37:g.3674093C>A			3622093	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Splice_Site	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984059	0.35036	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9452	0.71026	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC1	3622093	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	4.214000	0.58527	2.612000	0.88384	0.655000	0.94253	.		0.647	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	Intron	A	3674093	C	A	3674093	5	1	107	1	0	0	0	0	0	0	1	0	14308	492	17	3	1656	3	SIGLEC1	20	3674093	Splice_Site	SNP	C	TCGA-13-0904-01A-02W-0420-08		3674093	59351427	90	5771											
ZNF133	7692	broad.mit.edu	37	20	18297068	18297068	+	Silent	SNP	C	C	A	rs201405771	byFrequency	TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr20:18297068C>A	ENST00000316358.4	+	4	1670	c.1573C>A	c.(1573-1575)Cga>Aga	p.R525R	ZNF133_ENST00000396026.3_Silent_p.R528R|ZNF133_ENST00000402618.2_Silent_p.R462R|ZNF133_ENST00000401790.1_Silent_p.R525R|ZNF133_ENST00000538547.1_Silent_p.R430R|ZNF133_ENST00000535822.1_Silent_p.R430R|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000377671.3_Silent_p.R524R|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	525					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.R524R(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GTATGTGTGCCGAGAGTGCGG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	20											73	72	72					20																	18297068		2203	4300	6503	18245068	SO:0001819	synonymous_variant	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1573C>A	20.37:g.18297068C>A			18245068	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	37																																																																																					0.622	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		A	18297068	C	A	18297068	2	1	107	1	0	0	0	0	0	0	0	1	17723	644	23	3		3	ZNF133	20	18297068	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08	14622975	18297068	44728452	91	5772											
NCOA3	8202	broad.mit.edu	37	20	46264826	46264826	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr20:46264826G>T	ENST00000371998.3	+	12	1887	c.1696G>T	c.(1696-1698)Gat>Tat	p.D566Y	NCOA3_ENST00000341724.6_Missense_Mutation_p.D576Y|NCOA3_ENST00000372004.3_Missense_Mutation_p.D566Y|NCOA3_ENST00000371997.3_Missense_Mutation_p.D576Y			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	566	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.D566Y(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AAGCAATCAGGATTCCAAGAG	0.423																																																1	Substitution - Missense(1)	ovary(1)	20											84	83	83					20																	46264826		2203	4300	6503	45698233	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1696G>T	20.37:g.46264826G>T	ENSP00000361066:p.Asp566Tyr		45698233	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135621	0.77662	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.72	5.72	0.89469	.	0.068211	0.64402	D	0.000014	T	0.50205	0.1602	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;1.0;0.998	D;D;D;D;D;D	0.75484	0.968;0.982;0.968;0.95;0.986;0.91	T	0.50074	-0.8870	10	0.87932	D	0	-24.9807	19.8674	0.96824	0.0:0.0:1.0:0.0	.	566;576;570;566;566;566	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	Y	566;576;566;566;576	ENSP00000342123:D576Y;ENSP00000361073:D566Y;ENSP00000361066:D566Y;ENSP00000361065:D576Y	ENSP00000345671:D566Y	D	+	1	0	NCOA3	45698233	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.230000	0.95299	2.690000	0.91761	0.655000	0.94253	GAT		0.423	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		T	46264826	G	T	46264826	3	4	107	1	0	0	0	0	1	0	0	0	10230	1174	41	3	1764	3	NCOA3	20	46264826	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	27967758	46264826	16760694	92	5773											
TTLL8	164714	broad.mit.edu	37	22	50471792	50471792	+	Silent	SNP	C	C	A	rs374140159		TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chr22:50471792C>A	ENST00000266182.6	-	10	1121	c.1122G>T	c.(1120-1122)gtG>gtT	p.V374V	TTLL8_ENST00000440475.1_Silent_p.V354V			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	390	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.V374V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		ACTTCTGGACCACCCACTTGT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	22											47	55	52					22																	50471792		2164	4270	6434	48813919	SO:0001819	synonymous_variant	164714					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1122G>T	22.37:g.50471792C>A			48813919	B5MDV0	Silent	SNP	ENST00000266182.6	37																																																																																					0.577	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		A	50471792	C	A	50471792	2	1	107	1	0	0	0	0	0	0	0	1	16733	581	21	3		3	TTLL8	22	50471792	Silent	SNP	C	TCGA-13-0904-01A-02W-0420-08		50471792	832774	93	5774											
HDAC6	10013	broad.mit.edu	37	X	48664776	48664776	+	Splice_Site	SNP	C	C	T			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chrX:48664776C>T	ENST00000334136.5	+	7	617	c.439C>T	c.(439-441)Cta>Tta	p.L147L	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Splice_Site_p.L147L|HDAC6_ENST00000413163.2_Splice_Site_p.L92L|HDAC6_ENST00000444343.2_Splice_Site_p.L161L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	147	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.L147L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGTGTCTAGCCTAGAATATAT	0.502																																					Pancreas(112;205 1675 2305 8976 15959)											1	Substitution - coding silent(1)	ovary(1)	X											89	67	75					X																	48664776		2203	4300	6503	48549720	SO:0001630	splice_region_variant	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.438-1C>T	X.37:g.48664776C>T			48549720	O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	CCDS14306.1																																																																																				0.502	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	Silent	T	48664776	C	T	48664776	5	4	107	1	0	0	0	0	0	0	1	0	7011	695	24	2	461	2	HDAC6	23	48664776	Splice_Site	SNP	C	TCGA-13-0904-01A-02W-0420-08		48664776	106605784	94	5775											
HDAC6	10013	broad.mit.edu	37	X	48674576	48674576	+	Silent	SNP	T	T	C			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chrX:48674576T>C	ENST00000334136.5	+	18	1700	c.1522T>C	c.(1522-1524)Ttg>Ctg	p.L508L	HDAC6_ENST00000376619.2_Silent_p.L508L|HDAC6_ENST00000444343.2_Silent_p.L522L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	508	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.L508L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGCGCATCTTGCGGATCAT	0.647																																					Pancreas(112;205 1675 2305 8976 15959)											1	Substitution - coding silent(1)	ovary(1)	X											96	77	84					X																	48674576		2203	4300	6503	48559520	SO:0001819	synonymous_variant	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1522T>C	X.37:g.48674576T>C			48559520	O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	CCDS14306.1																																																																																				0.647	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		C	48674576	T	C	48674576	2	2	107	1	0	0	0	0	0	0	0	1	7011	1606	56	4		4	HDAC6	23	48674576	Silent	SNP	T	TCGA-13-0904-01A-02W-0420-08	9800	48674576	106595984	95	5776											
STARD8	9754	broad.mit.edu	37	X	67938364	67938364	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chrX:67938364C>A	ENST00000252336.6	+	5	1740	c.1368C>A	c.(1366-1368)aaC>aaA	p.N456K	STARD8_ENST00000374599.3_Missense_Mutation_p.N536K|STARD8_ENST00000374597.3_Missense_Mutation_p.N456K	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	456					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.N456K(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GTAGTGGGAACTCCATGAATG	0.597																																																2	Substitution - Missense(2)	ovary(2)	X											50	40	44					X																	67938364		2203	4300	6503	67855089	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1368C>A	X.37:g.67938364C>A	ENSP00000252336:p.Asn456Lys		67855089	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395058	0.62066	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07216	3.21;3.21;3.21	4.98	4.98	0.66077	.	0.344681	0.29145	N	0.013016	T	0.22166	0.0534	M	0.74881	2.28	0.48975	D	0.999731	D;P	0.56287	0.975;0.882	P;P	0.61201	0.885;0.601	T	0.01545	-1.1328	10	0.26408	T	0.33	.	10.0562	0.42246	0.2006:0.7994:0.0:0.0	.	536;456	Q92502-2;Q92502	.;STAR8_HUMAN	K	456;536;456	ENSP00000252336:N456K;ENSP00000363727:N536K;ENSP00000363725:N456K	ENSP00000252336:N456K	N	+	3	2	STARD8	67855089	0.059000	0.20769	0.762000	0.31397	0.965000	0.64279	0.120000	0.15647	2.056000	0.61249	0.600000	0.82982	AAC		0.597	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		A	67938364	C	A	67938364	3	1	107	1	0	0	0	0	1	0	0	0	15265	564	20	3	1630	3	STARD8	23	67938364	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	19263788	67938364	87332196	96	5777											
RLIM	51132	broad.mit.edu	37	X	73812800	73812800	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chrX:73812800C>A	ENST00000332687.6	-	4	568	c.350G>T	c.(349-351)aGa>aTa	p.R117I	RLIM_ENST00000349225.2_Missense_Mutation_p.R117I	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	117					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R117I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGGTTTCCTCTTTGCCCACT	0.408																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											1	Substitution - Missense(1)	ovary(1)	X											126	114	118					X																	73812800		2203	4300	6503	73729525	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.350G>T	X.37:g.73812800C>A	ENSP00000328059:p.Arg117Ile		73729525	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041800	0.75732	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.09538	2.97;2.97	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00107	-1.2052	10	0.46703	T	0.11	-7.8082	19.7362	0.96205	0.0:1.0:0.0:0.0	.	117	Q9NVW2	RNF12_HUMAN	I	117	ENSP00000328059:R117I;ENSP00000253571:R117I	ENSP00000328059:R117I	R	-	2	0	RLIM	73729525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.618000	0.88619	0.600000	0.82982	AGA		0.408	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		A	73812800	C	A	73812800	3	1	107	1	0	0	0	0	1	0	0	0	13393	913	32	3	1528	3	RLIM	23	73812800	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	5874436	73812800	81457760	97	5778											
ODZ1	10178	broad.mit.edu	37	X	123517987	123517987	+	Missense_Mutation	SNP	G	G	A	rs372260419		TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chrX:123517987G>A	ENST00000371130.3	-	29	6836	c.6773C>T	c.(6772-6774)gCg>gTg	p.A2258V	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.A2265V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2258					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A2260V(1)									GGACTTACTCGCGACACGTCG	0.458																																																1	Substitution - Missense(1)	ovary(1)	X						G	VAL/ALA,VAL/ALA,VAL/ALA	1,3834		0,1,1631,571	99	95	96		6794,6791,6773	5.7	1	X		96	0,6728		0,0,2428,1872	no	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	64,64,64	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	possibly-damaging,possibly-damaging,possibly-damaging	2265/2733,2264/2732,2258/2726	123517987	1,10562	2203	4300	6503	123345668	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6773C>T	X.37:g.123517987G>A	ENSP00000360171:p.Ala2258Val		123345668	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249756	0.80024	2.61E-4	0.0	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86769	-2.17;-2.13	5.66	5.66	0.87406	.	0.051235	0.85682	D	0.000000	D	0.91489	0.7313	L	0.53561	1.675	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.997	D;P;P	0.63793	0.918;0.692;0.647	D	0.91220	0.5006	10	0.48119	T	0.1	.	18.6847	0.91559	0.0:0.0:1.0:0.0	.	2264;2265;2258	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	2258;2265	ENSP00000360171:A2258V;ENSP00000403954:A2265V	ENSP00000360171:A2258V	A	-	2	0	ODZ1	123345668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.022000	0.88759	2.356000	0.79943	0.600000	0.82982	GCG		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123517987	G	A	123517987	3	1	107	1	0	0	0	0	1	0	0	0	10834	1087	38	1	1416	1	ODZ1	23	123517987	Missense_Mutation	SNP	G	TCGA-13-0904-01A-02W-0420-08	49705187	123517987	31752573	98	5779											
GPR112	139378	broad.mit.edu	37	X	135427478	135427478	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0904-01A-02W-0420-08	TCGA-13-0904-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	bfa7177f-6d7e-4f20-b9c3-00eab658e818	176f3503-c00c-455e-b49a-e4fafe4dcb50	g.chrX:135427478C>G	ENST00000394143.1	+	6	1904	c.1613C>G	c.(1612-1614)cCc>cGc	p.P538R	GPR112_ENST00000370652.1_Missense_Mutation_p.P538R|GPR112_ENST00000412101.1_Missense_Mutation_p.P333R|GPR112_ENST00000394141.1_Missense_Mutation_p.P333R|GPR112_ENST00000287534.4_Missense_Mutation_p.P475R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	538					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P538R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTCTCTTTACCCAGAGTGGAA	0.428																																																1	Substitution - Missense(1)	ovary(1)	X											62	56	58					X																	135427478		2202	4300	6502	135255144	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1613C>G	X.37:g.135427478C>G	ENSP00000377699:p.Pro538Arg		135255144	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	12.31	1.898769	0.33535	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31769	1.51;1.51;1.48;1.6;1.48	3.42	2.54	0.30619	.	.	.	.	.	T	0.30008	0.0751	L	0.29908	0.895	0.09310	N	1	P;B;D	0.58970	0.527;0.235;0.984	B;B;P	0.52109	0.286;0.23;0.69	T	0.09271	-1.0682	9	0.87932	D	0	.	6.668	0.23052	0.0:0.851:0.0:0.149	.	475;333;538	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	R	538;538;333;475;333	ENSP00000377699:P538R;ENSP00000359686:P538R;ENSP00000416526:P333R;ENSP00000287534:P475R;ENSP00000377697:P333R	ENSP00000287534:P475R	P	+	2	0	GPR112	135255144	0.001000	0.12720	0.001000	0.08648	0.053000	0.15095	0.075000	0.14686	0.567000	0.29293	0.411000	0.27672	CCC		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			G	135427478	C	G	135427478	3	3	107	1	0	0	0	0	1	0	0	0	6629	623	22	3	1623	3	GPR112	23	135427478	Missense_Mutation	SNP	C	TCGA-13-0904-01A-02W-0420-08	11909491	135427478	19843082	99	5780											
PLEKHM2	23207	broad.mit.edu	37	1	16057121	16057121	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr1:16057121C>G	ENST00000375799.3	+	15	2530	c.2303C>G	c.(2302-2304)cCc>cGc	p.P768R	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.P748R|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR	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	49	46					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	.	.	.	.	.	.	.	.	.	.	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		G	16057121	C	G	16057121	3	3	108	1	0	0	0	0	1	0	0	0	12081	623	22	3	2361	3	PLEKHM2	1	16057121	Missense_Mutation	SNP	C	TCGA-13-0905-01B-01W-0492-08		16057121	233193500	1	5781											
ADC	113451	broad.mit.edu	37	1	33549673	33549673	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr1:33549673C>G	ENST00000294517.6	+	5	811	c.224C>G	c.(223-225)cCa>cGa	p.P75R	ADC_ENST00000373443.3_Missense_Mutation_p.P75R|ADC_ENST00000358680.3_Missense_Mutation_p.P75R|ADC_ENST00000373440.1_Missense_Mutation_p.P75R|ADC_ENST00000398167.1_Missense_Mutation_p.P75R|ADC_ENST00000373441.1_Missense_Mutation_p.P75R|ADC_ENST00000484656.1_3'UTR	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	70	73					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	.	.	.	.	.	.	.	.	.	.	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			G	33549673	C	G	33549673	3	3	108	1	0	0	0	0	1	0	0	0	287	594	21	3	230	3	ADC	1	33549673	Missense_Mutation	SNP	C	TCGA-13-0905-01B-01W-0492-08	17492552	33549673	215700948	2	5782											
MAP7D1	55700	broad.mit.edu	37	1	36641855	36641855	+	Silent	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr1:36641855G>A	ENST00000373151.2	+	7	1122	c.906G>A	c.(904-906)acG>acA	p.T302T	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.T302T|MAP7D1_ENST00000316156.4_Silent_p.T265T|MAP7D1_ENST00000373148.4_5'Flank	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	23	22					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																																																																																				0.682	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		A	36641855	G	A	36641855	2	1	108	1	0	0	0	0	0	0	0	1	9267	1074	38	1		1	MAP7D1	1	36641855	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08	3092182	36641855	212608766	3	5783											
ZC3H12A	80149	broad.mit.edu	37	1	37949076	37949076	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	61	58					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	.	.	.	.	.	.	.	.	.	.	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		A	37949076	G	A	37949076	3	1	108	1	0	0	0	0	1	0	0	0	17561	971	34	2	1682	2	ZC3H12A	1	37949076	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	1307221	37949076	211301545	4	5784											
RRAGC	64121	broad.mit.edu	37	1	39321527	39321527	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	88	87					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	.	.	.	.	.	.	.	.	.	.	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		C	39321527	T	C	39321527	3	2	108	1	0	0	0	0	1	0	0	0	13677	1638	57	4	725	4	RRAGC	1	39321527	Missense_Mutation	SNP	T	TCGA-13-0905-01B-01W-0492-08	1372451	39321527	209929094	5	5785											
CC2D1B	200014	broad.mit.edu	37	1	52823368	52823368	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	23	25					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	.	.	.	.	.	.	.	.	.	.	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		A	52823368	G	A	52823368	3	1	108	1	0	0	0	0	1	0	0	0	2727	1086	38	1	1016	1	CC2D1B	1	52823368	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	13501841	52823368	196427253	6	5786											
PDE4B	5142	broad.mit.edu	37	1	66829221	66829221	+	Silent	SNP	G	G	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr1:66829221G>T	ENST00000329654.4	+	12	1438	c.1251G>T	c.(1249-1251)tcG>tcT	p.S417S	PDE4B_ENST00000480109.2_Silent_p.S184S|PDE4B_ENST00000423207.2_Silent_p.S402S|PDE4B_ENST00000371045.5_Silent_p.S245S|PDE4B_ENST00000371049.3_Silent_p.S417S	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	82	86					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																																																																																				0.448	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		T	66829221	G	T	66829221	2	4	108	1	0	0	0	0	0	0	0	1	11640	1045	37	3		3	PDE4B	1	66829221	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08	14005853	66829221	182421400	7	5787											
SCAMP3	10067	broad.mit.edu	37	1	155231929	155231929	+	Missense_Mutation	SNP	C	C	G	rs369270567		TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	73	73		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	.	.	.	.	.	.	.	.	.	.	.	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		G	155231929	C	G	155231929	3	3	108	1	0	0	0	0	1	0	0	0	13875	913	32	3	1065	3	SCAMP3	1	155231929	Missense_Mutation	SNP	C	TCGA-13-0905-01B-01W-0492-08	88402708	155231929	94018692	8	5788											
OR6Y1	391112	broad.mit.edu	37	1	158517256	158517256	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	100	102					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	.	.	.	.	.	.	.	.	.	.	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		G	158517256	T	G	158517256	3	3	108	1	0	0	0	0	1	0	0	0	11213	1406	49	5	339	5	OR6Y1	1	158517256	Missense_Mutation	SNP	T	TCGA-13-0905-01B-01W-0492-08	3285327	158517256	90733365	9	5789											
TARBP1	6894	broad.mit.edu	37	1	234565355	234565355	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	100	100					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	.	.	.	.	.	.	.	.	.	.	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		T	234565355	C	T	234565355	4	4	108	1	0	0	0	0	0	1	0	0	15555	595	21	2	2247	2	TARBP1	1	234565355	Nonsense_Mutation	SNP	C	TCGA-13-0905-01B-01W-0492-08	76048099	234565355	14685266	10	5790											
PKP4	8502	broad.mit.edu	37	2	159517858	159517858	+	Missense_Mutation	SNP	G	G	A	rs143377767		TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	5008	,	,		20402	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	64	63		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	.	.	.	.	.	.	.	.	.	.	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			A	159517858	G	A	159517858	3	1	108	1	0	0	0	0	1	0	0	0	11987	1087	38	1	2153	1	PKP4	2	159517858	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08		159517858	83681515	11	5791											
CSRNP3	80034	broad.mit.edu	37	2	166535514	166535514	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	75	74					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	.	.	.	.	.	.	.	.	.	.	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		C	166535514	G	C	166535514	3	2	108	1	0	0	0	0	1	0	0	0	3965	942	33	3	1023	3	CSRNP3	2	166535514	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	7017656	166535514	76663859	12	5792											
FN1	2335	broad.mit.edu	37	2	216235109	216235109	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr2:216235109G>C	ENST00000359671.1	-	40	6753	c.6488C>G	c.(6487-6489)aCc>aGc	p.T2163S	FN1_ENST00000345488.5_Intron|FN1_ENST00000432072.2_Missense_Mutation_p.T2044S|FN1_ENST00000357867.4_Missense_Mutation_p.T1953S|FN1_ENST00000354785.4_Missense_Mutation_p.T2254S|FN1_ENST00000336916.4_Missense_Mutation_p.T2132S|FN1_ENST00000446046.1_Missense_Mutation_p.T2107S|FN1_ENST00000346544.3_Missense_Mutation_p.T2043S|FN1_ENST00000356005.4_Missense_Mutation_p.T2073S|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.T2017S|FN1_ENST00000443816.1_Missense_Mutation_p.T2042S|FN1_ENST00000323926.6_Missense_Mutation_p.T2223S			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	97	102					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		.	.	.	.	.	.	.	.	.	.	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		C	216235109	G	C	216235109	3	2	108	1	0	0	0	0	1	0	0	0	5962	1261	44	3	696	3	FN1	2	216235109	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	49699595	216235109	26964264	13	5793											
SUSD5	26032	broad.mit.edu	37	3	33255452	33255452	+	Silent	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	82	81					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	.	.	.	.	.	.	.	.	.	.	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		A	33255452	G	A	33255452	2	1	108	1	0	0	0	0	0	0	0	1	15411	1311	46	2		2	SUSD5	3	33255452	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08		33255452	164766978	14	5794											
NISCH	11188	broad.mit.edu	37	3	52526018	52526018	+	Silent	SNP	C	C	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	70	69					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																																																																																				0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		G	52526018	C	G	52526018	2	3	108	1	0	0	0	0	0	0	0	1	10432	813	29	3		3	NISCH	3	52526018	Silent	SNP	C	TCGA-13-0905-01B-01W-0492-08	19270566	52526018	145496412	15	5795											
BBX	56987	broad.mit.edu	37	3	107510094	107510094	+	Silent	SNP	G	G	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr3:107510094G>T	ENST00000325805.8	+	15	2588	c.2301G>T	c.(2299-2301)ggG>ggT	p.G767G	BBX_ENST00000416476.2_Missense_Mutation_p.G431V|BBX_ENST00000402543.1_Intron|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000415149.2_Silent_p.G737G|BBX_ENST00000406780.1_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	82	83					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	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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		T	107510094	G	T	107510094	2	4	108	1	0	0	0	0	0	0	0	1	1343	1219	43	3		3	BBX	3	107510094	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08	54984076	107510094	90512336	16	5796											
SEC22A	26984	broad.mit.edu	37	3	122943997	122943997	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	92	90					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	.	.	.	.	.	.	.	.	.	.	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		G	122943997	C	G	122943997	3	3	108	1	0	0	0	0	1	0	0	0	13991	913	32	3	404	3	SEC22A	3	122943997	Missense_Mutation	SNP	C	TCGA-13-0905-01B-01W-0492-08	15433903	122943997	75078433	17	5797											
KALRN	8997	broad.mit.edu	37	3	124165611	124165611	+	Splice_Site	SNP	C	C	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	105	104					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	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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	A	124165611	C	A	124165611	5	1	108	1	0	0	0	0	0	0	1	0	7975	782	27	3	3507	3	KALRN	3	124165611	Splice_Site	SNP	C	TCGA-13-0905-01B-01W-0492-08	1221614	124165611	73856819	18	5798											
CHST2	9435	broad.mit.edu	37	3	142840774	142840774	+	Silent	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	31	29					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																																																																																				0.662	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		A	142840774	G	A	142840774	2	1	108	1	0	0	0	0	0	0	0	1	3404	1103	39	1		1	CHST2	3	142840774	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08	18675163	142840774	55181656	19	5799											
PDZD2	23037	broad.mit.edu	37	5	32089619	32089619	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	147	143					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	.	.	.	.	.	.	.	.	.	.	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			A	32089619	G	A	32089619	3	1	108	1	0	0	0	0	1	0	0	0	11701	1377	48	2	6139	2	PDZD2	5	32089619	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08		32089619	148825641	20	5800											
PCDHB9	57717	broad.mit.edu	37	5	140567248	140567248	+	IGR	SNP	C	C	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	59	58					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																																																																																				0.428	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		G	140567248	C	G	140567248	1	3	108	0	1	0	0	0	0	0	0	0	11549	797	28	3		3	PCDHB9	5	140567248	IGR	SNP	C	TCGA-13-0905-01B-01W-0492-08	108477629	140567248	40348012	21	5801											
ZNF300	91975	broad.mit.edu	37	5	150275377	150275377	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.S475F|ZNF300_ENST00000418587.2_Missense_Mutation_p.S439F	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	80	81					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	.	.	.	.	.	.	.	.	.	.	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		A	150275377	G	A	150275377	3	1	108	1	0	0	0	0	1	0	0	0	17831	1174	41	2	394	2	ZNF300	5	150275377	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	9708129	150275377	30639883	22	5802											
GABRA6	2559	broad.mit.edu	37	5	161117296	161117296	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr5:161117296G>C	ENST00000274545.5	+	7	1196	c.763G>C	c.(763-765)Gtc>Ctc	p.V255L	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.V245L			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	162	167					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	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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			C	161117296	G	C	161117296	3	2	108	1	0	0	0	0	1	0	0	0	6165	1029	36	3	789	3	GABRA6	5	161117296	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	10841919	161117296	19797964	23	5803											
GRM6	2916	broad.mit.edu	37	5	178413538	178413538	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr5:178413538G>A	ENST00000517717.1	-	9	1755	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P573S			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	20	20					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	.	.	.	.	.	.	.	.	.	.	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			A	178413538	G	A	178413538	3	1	108	1	0	0	0	0	1	0	0	0	6801	1232	43	2	928	2	GRM6	5	178413538	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	17296242	178413538	2501722	24	5804											
HIST1H2BH	8345	broad.mit.edu	37	6	26252061	26252061	+	Silent	SNP	G	G	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	131	133					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																																																																																				0.552	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		C	26252061	G	C	26252061	2	2	108	1	0	0	0	0	0	0	0	1	7147	1161	41	3		3	HIST1H2BH	6	26252061	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08		26252061	144863006	25	5805											
C6orf47	57827	broad.mit.edu	37	6	31627261	31627261	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	73	69					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	.	.	.	.	.	.	.	.	.	.	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		T	31627261	A	T	31627261	4	4	108	1	0	0	0	0	0	1	0	0	2364	131	5	5	424	5	C6orf47	6	31627261	Nonsense_Mutation	SNP	A	TCGA-13-0905-01B-01W-0492-08	5375200	31627261	139487806	26	5806											
TULP1	7287	broad.mit.edu	37	6	35471419	35471419	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	25	25					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	.	.	.	.	.	.	.	.	.	.	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			G	35471419	C	G	35471419	3	3	108	1	0	0	0	0	1	0	0	0	16773	623	22	3	400	3	TULP1	6	35471419	Missense_Mutation	SNP	C	TCGA-13-0905-01B-01W-0492-08	3844158	35471419	135643648	27	5807											
MEP1A	4224	broad.mit.edu	37	6	46761419	46761419	+	Silent	SNP	T	T	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	50	49					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																																																																																				0.308	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		C	46761419	T	C	46761419	2	2	108	1	0	0	0	0	0	0	0	1	9475	1809	63	4		4	MEP1A	6	46761419	Silent	SNP	T	TCGA-13-0905-01B-01W-0492-08	11290000	46761419	124353648	28	5808											
C6orf168	84553	broad.mit.edu	37	6	99797093	99797093	+	Silent	SNP	C	C	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	65	65					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																																																																																				0.592	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		G	99797093	C	G	99797093	2	3	108	1	0	0	0	0	0	0	0	1	2343	842	30	3		3	C6orf168	6	99797093	Silent	SNP	C	TCGA-13-0905-01B-01W-0492-08	53035674	99797093	71317974	29	5809											
TRAF3IP2	10758	broad.mit.edu	37	6	111912676	111912676	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr6:111912676T>G	ENST00000340026.6	-	3	1235	c.641A>C	c.(640-642)gAt>gCt	p.D214A	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.D205A|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.D205A|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	73	72					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		.	.	.	.	.	.	.	.	.	.	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			G	111912676	T	G	111912676	3	3	108	1	0	0	0	0	1	0	0	0	16441	1435	50	5	1115	5	TRAF3IP2	6	111912676	Missense_Mutation	SNP	T	TCGA-13-0905-01B-01W-0492-08	12115583	111912676	59202391	30	5810											
ENPP3	5169	broad.mit.edu	37	6	132047338	132047338	+	Silent	SNP	T	T	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr6:132047338T>C	ENST00000414305.1	+	21	2279	c.1951T>C	c.(1951-1953)Ttg>Ctg	p.L651L	ENPP3_ENST00000357639.3_Silent_p.L651L|ENPP3_ENST00000358229.5_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	140	143					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																																																																																				0.418	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			C	132047338	T	C	132047338	2	2	108	1	0	0	0	0	0	0	0	1	5131	1722	60	4		4	ENPP3	6	132047338	Silent	SNP	T	TCGA-13-0905-01B-01W-0492-08	20134662	132047338	39067729	31	5811											
PDE10A	10846	broad.mit.edu	37	6	165843787	165843787	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	150	153					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		.	.	.	.	.	.	.	.	.	.	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			T	165843787	A	T	165843787	3	4	108	1	0	0	0	0	1	0	0	0	11630	304	11	5	1634	5	PDE10A	6	165843787	Missense_Mutation	SNP	A	TCGA-13-0905-01B-01W-0492-08	33796449	165843787	5271280	32	5812											
DAGLB	221955	broad.mit.edu	37	7	6456311	6456311	+	Silent	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr7:6456311G>A	ENST00000297056.6	-	11	1543	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	DAGLB_ENST00000425398.2_Silent_p.A329A|DAGLB_ENST00000428902.2_Silent_p.A331A|DAGLB_ENST00000421761.2_Silent_p.A202A|DAGLB_ENST00000436575.1_Silent_p.A417A	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	47	45					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																																																																																				0.627	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		A	6456311	G	A	6456311	2	1	108	1	0	0	0	0	0	0	0	1	4227	1103	39	1		1	DAGLB	7	6456311	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08		6456311	152682352	33	5813											
VSTM2A	222008	broad.mit.edu	37	7	54617631	54617631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr7:54617631C>A	ENST00000407838.3	+	4	808	c.402C>A	c.(400-402)taC>taA	p.Y134*	VSTM2A_ENST00000404951.1_Nonsense_Mutation_p.Y134*|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Nonsense_Mutation_p.Y134*|VSTM2A_ENST00000302287.3_Nonsense_Mutation_p.Y134*|VSTM2A_ENST00000402026.2_Nonsense_Mutation_p.Y133*	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	60	59					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	.	.	.	.	.	.	.	.	.	.	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		A	54617631	C	A	54617631	4	1	108	1	0	0	0	0	0	1	0	0	17229	547	19	3	416	3	VSTM2A	7	54617631	Nonsense_Mutation	SNP	C	TCGA-13-0905-01B-01W-0492-08	48161320	54617631	104521032	34	5814											
CSMD1	64478	broad.mit.edu	37	8	3076922	3076922	+	Silent	SNP	T	T	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr8:3076922T>C	ENST00000520002.1	-	30	5085	c.4530A>G	c.(4528-4530)gaA>gaG	p.E1510E	CSMD1_ENST00000537824.1_Silent_p.E1509E|CSMD1_ENST00000539096.1_Silent_p.E1509E|CSMD1_ENST00000602723.1_Silent_p.E1510E|CSMD1_ENST00000542608.1_Silent_p.E1509E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.E1510E|CSMD1_ENST00000400186.3_Silent_p.E1510E			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	41	41					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		.	.	.	.	.	.	.	.	.	.	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		C	3076922	T	C	3076922	2	2	108	1	0	0	0	0	0	0	0	1	3944	1606	56	4		4	CSMD1	8	3076922	Silent	SNP	T	TCGA-13-0905-01B-01W-0492-08		3076922	143287100	35	5815											
UBR5	51366	broad.mit.edu	37	8	103277451	103277451	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr8:103277451T>A	ENST00000520539.1	-	53	8084	c.7478A>T	c.(7477-7479)gAt>gTt	p.D2493V	UBR5_ENST00000518205.1_Missense_Mutation_p.D221V|UBR5_ENST00000521922.1_Missense_Mutation_p.D2486V|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	117	119					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	.	.	.	.	.	.	.	.	.	.	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		A	103277451	T	A	103277451	3	1	108	1	0	0	0	0	1	0	0	0	16905	1435	50	5	949	5	UBR5	8	103277451	Missense_Mutation	SNP	T	TCGA-13-0905-01B-01W-0492-08	100200529	103277451	43086571	36	5816											
EFR3A	23167	broad.mit.edu	37	8	133015518	133015518	+	Silent	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	88	90					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																																																																																				0.318	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		A	133015518	G	A	133015518	2	1	108	1	0	0	0	0	0	0	0	1	4958	1339	47	2		2	EFR3A	8	133015518	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08	29738067	133015518	13348504	37	5817											
KCNQ3	3786	broad.mit.edu	37	8	133144488	133144488	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	139	142					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	.	.	.	.	.	.	.	.	.	.	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		C	133144488	G	C	133144488	3	2	108	1	0	0	0	0	1	0	0	0	8084	1348	47	3	803	3	KCNQ3	8	133144488	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	128970	133144488	13219534	38	5818											
AGTPBP1	23287	broad.mit.edu	37	9	88247912	88247912	+	Silent	SNP	A	A	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr9:88247912A>T	ENST00000357081.3	-	14	1824	c.1680T>A	c.(1678-1680)ctT>ctA	p.L560L	AGTPBP1_ENST00000376083.3_Silent_p.L520L|AGTPBP1_ENST00000337006.4_3'UTR|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	115	118					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																																																																																					0.433	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		T	88247912	A	T	88247912	2	4	108	1	0	0	0	0	0	0	0	1	400	233	9	5		5	AGTPBP1	9	88247912	Silent	SNP	A	TCGA-13-0905-01B-01W-0492-08		88247912	52965519	39	5819											
MRRF	92399	broad.mit.edu	37	9	125075605	125075605	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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_ENST00000373729.1_Missense_Mutation_p.N173K|MRRF_ENST00000373723.5_Intron	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	123	131					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	.	.	.	.	.	.	.	.	.	.	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		G	125075605	C	G	125075605	3	3	108	1	0	0	0	0	1	0	0	0	9850	477	17	3	669	3	MRRF	9	125075605	Missense_Mutation	SNP	C	TCGA-13-0905-01B-01W-0492-08	36827693	125075605	16137826	40	5820											
RPP38	10557	broad.mit.edu	37	10	15145376	15145376	+	Silent	SNP	G	G	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	75	74					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																																																																																				0.507	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		T	15145376	G	T	15145376	2	4	108	1	0	0	0	0	0	0	0	1	13616	1277	45	3		3	RPP38	10	15145376	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08		15145376	120389371	41	5821											
DMBT1	1755	broad.mit.edu	37	10	124390549	124390549	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr10:124390549G>T	ENST00000338354.3	+	46	5817	c.5711G>T	c.(5710-5712)gGt>gTt	p.G1904V	DMBT1_ENST00000368909.3_Missense_Mutation_p.G1904V|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1276V|DMBT1_ENST00000359586.6_Missense_Mutation_p.G624V|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1894V|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	124	125					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		.	.	.	.	.	.	.	.	.	.	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		T	124390549	G	T	124390549	3	4	108	1	0	0	0	0	1	0	0	0	4577	1261	44	3	5893	3	DMBT1	10	124390549	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	109245173	124390549	11144198	42	5822											
QSER1	79832	broad.mit.edu	37	11	32956729	32956729	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	102	102					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	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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		C	32956729	G	C	32956729	3	2	108	1	0	0	0	0	1	0	0	0	12885	1000	35	3	3544	3	QSER1	11	32956729	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08		32956729	102049787	43	5823											
GYLTL1B	120071	broad.mit.edu	37	11	45948882	45948882	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr11:45948882G>T	ENST00000531526.1	+	11	1453	c.1342G>T	c.(1342-1344)Gcc>Tcc	p.A448S	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A175S|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A417S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A448S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A417S|GYLTL1B_ENST00000401752.1_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	55	57					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	.	.	.	.	.	.	.	.	.	.	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		T	45948882	G	T	45948882	3	4	108	1	0	0	0	0	1	0	0	0	6907	971	34	3	1380	3	GYLTL1B	11	45948882	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	12992153	45948882	89057634	44	5824											
UTP20	27340	broad.mit.edu	37	12	101684036	101684036	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	83	83					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	.	.	.	.	.	.	.	.	.	.	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		T	101684036	A	T	101684036	3	4	108	1	0	0	0	0	1	0	0	0	17099	159	6	5	745	5	UTP20	12	101684036	Missense_Mutation	SNP	A	TCGA-13-0905-01B-01W-0492-08		101684036	32167859	45	5825											
LCP1	3936	broad.mit.edu	37	13	46732676	46732676	+	Silent	SNP	G	G	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr13:46732676G>T	ENST00000398576.2	-	7	727	c.339C>A	c.(337-339)ggC>ggA	p.G113G	LCP1_ENST00000323076.2_Silent_p.G113G|LCP1_ENST00000460190.1_5'Flank			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	135	141					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																																																																																				0.438	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		T	46732676	G	T	46732676	2	4	108	1	0	0	0	0	0	0	0	1	8691	1306	46	3		3	LCP1	13	46732676	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08		46732676	68437202	46	5826											
CGRRF1	10668	broad.mit.edu	37	14	54989273	54989273	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	116	117					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	.	.	.	.	.	.	.	.	.	.	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		C	54989273	G	C	54989273	3	2	108	1	0	0	0	0	1	0	0	0	3306	1203	42	3	212	3	CGRRF1	14	54989273	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08		54989273	52360267	47	5827											
FNTB	2342	broad.mit.edu	37	14	65521330	65521330	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr14:65521330G>A	ENST00000246166.2	+	11	1339	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	FNTB_ENST00000447296.2_Missense_Mutation_p.G403S|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.G404S|FNTB_ENST00000542227.1_Missense_Mutation_p.G323S	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	61	68					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	.	.	.	.	.	.	.	.	.	.	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		A	65521330	G	A	65521330	3	1	108	1	0	0	0	0	1	0	0	0	5978	1116	39	1	1147	1	FNTB	14	65521330	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	10532057	65521330	41828210	48	5828											
SERPINA5	5104	broad.mit.edu	37	14	95053850	95053850	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr14:95053850G>C	ENST00000554866.1	+	2	265	c.151G>C	c.(151-153)Gac>Cac	p.D51H	SERPINA5_ENST00000553780.1_Missense_Mutation_p.D51H|SERPINA5_ENST00000554276.1_Missense_Mutation_p.D51H|SERPINA5_ENST00000329597.7_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	44	45					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	.	.	.	.	.	.	.	.	.	.	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		C	95053850	G	C	95053850	3	2	108	1	0	0	0	0	1	0	0	0	14095	1290	45	3	153	3	SERPINA5	14	95053850	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08	29532520	95053850	12295690	49	5829											
CHP	11261	broad.mit.edu	37	15	41571019	41571019	+	Missense_Mutation	SNP	G	G	A	rs79101281		TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	123	133					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	.	.	.	.	.	.	.	.	.	.	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		A	41571019	G	A	41571019	3	1	108	1	0	0	0	0	1	0	0	0	3366	1087	38	1	488	1	CHP	15	41571019	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08		41571019	60960373	50	5830											
ERCC4	2072	broad.mit.edu	37	16	14029160	14029160	+	Silent	SNP	C	C	T			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	78	77					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																																																																																				0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		T	14029160	C	T	14029160	2	4	108	1	0	0	0	0	0	0	0	1	5215	477	17	2		2	ERCC4	16	14029160	Silent	SNP	C	TCGA-13-0905-01B-01W-0492-08		14029160	76325593	51	5831											
PRKCB	5579	broad.mit.edu	37	16	24166095	24166095	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	127	141					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	.	.	.	.	.	.	.	.	.	.	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		A	24166095	T	A	24166095	3	1	108	1	0	0	0	0	1	0	0	0	12511	1696	59	5	1194	5	PRKCB	16	24166095	Missense_Mutation	SNP	T	TCGA-13-0905-01B-01W-0492-08	10136935	24166095	66188658	52	5832											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	G	rs28934576		TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr17:7577120C>G	ENST00000269305.4	-	8	1007	c.818G>C	c.(817-819)cGt>cCt	p.R273P	TP53_ENST00000445888.2_Missense_Mutation_p.R273P|TP53_ENST00000420246.2_Missense_Mutation_p.R273P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273P|TP53_ENST00000455263.2_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	58	61					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	.	.	.	.	.	.	.	.	.	.	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		G	7577120	C	G	7577120	3	3	108	1	0	0	0	0	1	0	0	0	16381	536	19	3	468	3	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-13-0905-01B-01W-0492-08		7577120	73618090	53	5833											
C18orf1	753	broad.mit.edu	37	18	13645397	13645397	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr18:13645397T>G	ENST00000359446.5	+	6	1130	c.662T>G	c.(661-663)aTt>aGt	p.I221S	LDLRAD4_ENST00000586765.1_Missense_Mutation_p.I166S|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.I123S|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.I221S|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.I184S|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.I144S|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.I203S|RP11-701H16.4_ENST00000588397.1_RNA	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	83	80					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	.	.	.	.	.	.	.	.	.	.	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		G	13645397	T	G	13645397	3	3	108	1	0	0	0	0	1	0	0	0	1894	1493	52	5	761	5	C18orf1	18	13645397	Missense_Mutation	SNP	T	TCGA-13-0905-01B-01W-0492-08		13645397	64431851	54	5834											
CPAMD8	27151	broad.mit.edu	37	19	17120120	17120120	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	139	138					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	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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		C	17120120	T	C	17120120	3	2	108	1	0	0	0	0	1	0	0	0	3795	1638	57	4	5308	4	CPAMD8	19	17120120	Missense_Mutation	SNP	T	TCGA-13-0905-01B-01W-0492-08		17120120	42008863	55	5835											
ABCG1	9619	broad.mit.edu	37	21	43702433	43702433	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chr21:43702433G>A	ENST00000361802.2	+	6	783	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	ABCG1_ENST00000398457.2_Missense_Mutation_p.R215Q|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.R213Q|ABCG1_ENST00000347800.2_Missense_Mutation_p.R210Q|ABCG1_ENST00000398437.1_Missense_Mutation_p.R359Q|ABCG1_ENST00000343687.3_Missense_Mutation_p.R224Q|ABCG1_ENST00000340588.4_Missense_Mutation_p.R321Q	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	58	58					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	.	.	.	.	.	.	.	.	.	.	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		A	43702433	G	A	43702433	3	1	108	1	0	0	0	0	1	0	0	0	68	1116	39	1	828	1	ABCG1	21	43702433	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08		43702433	4427462	56	5836											
PCNT	5116	broad.mit.edu	37	21	47783804	47783804	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	65	62					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	.	.	.	.	.	.	.	.	.	.	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		C	47783804	A	C	47783804	3	2	108	1	0	0	0	0	1	0	0	0	11590	159	6	5	2618	5	PCNT	21	47783804	Missense_Mutation	SNP	A	TCGA-13-0905-01B-01W-0492-08	4081371	47783804	346091	57	5837											
CECR1	51816	broad.mit.edu	37	22	17684625	17684625	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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_ENST00000399837.2_Missense_Mutation_p.E194A|CECR1_ENST00000449907.2_Missense_Mutation_p.E152A	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	100	105					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	.	.	.	.	.	.	.	.	.	.	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			G	17684625	T	G	17684625	3	3	108	1	0	0	0	0	1	0	0	0	3205	1551	54	5	1016	5	CECR1	22	17684625	Missense_Mutation	SNP	T	TCGA-13-0905-01B-01W-0492-08		17684625	33619941	58	5838											
FAM47B	170062	broad.mit.edu	37	X	34961820	34961820	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	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	54	55					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	.	.	.	.	.	.	.	.	.	.	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		A	34961820	G	A	34961820	3	1	108	1	0	0	0	0	1	0	0	0	5570	1087	38	1	874	1	FAM47B	23	34961820	Missense_Mutation	SNP	G	TCGA-13-0905-01B-01W-0492-08		34961820	120308740	59	5839											
LAS1L	81887	broad.mit.edu	37	X	64738127	64738127	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chrX:64738127T>C	ENST00000374811.3	-	12	1707	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	LAS1L_ENST00000374804.5_Missense_Mutation_p.E497G|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.E539G	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	98	102					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	.	.	.	.	.	.	.	.	.	.	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		C	64738127	T	C	64738127	3	2	108	1	0	0	0	0	1	0	0	0	8636	1551	54	4	549	4	LAS1L	23	64738127	Missense_Mutation	SNP	T	TCGA-13-0905-01B-01W-0492-08	29776307	64738127	90532433	60	5840											
L1CAM	3897	broad.mit.edu	37	X	153131183	153131183	+	Silent	SNP	G	G	C			TCGA-13-0905-01B-01W-0492-08	TCGA-13-0905-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	8300e75c-6dcd-4447-a765-1f7574c78b5e	dfc08798-d1f0-435e-bd3c-109943324c11	g.chrX:153131183G>C	ENST00000370060.1	-	20	2712	c.2523C>G	c.(2521-2523)gtC>gtG	p.V841V	L1CAM_ENST00000370055.1_Silent_p.V836V|L1CAM_ENST00000543994.1_Silent_p.V843V|L1CAM_ENST00000361981.3_Silent_p.V836V|L1CAM_ENST00000361699.4_Silent_p.V841V|L1CAM_ENST00000370057.3_Silent_p.V841V|L1CAM_ENST00000538883.1_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	95	94					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																																																																																				0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		C	153131183	G	C	153131183	2	2	108	1	0	0	0	0	0	0	0	1	8588	1277	45	3		3	L1CAM	23	153131183	Silent	SNP	G	TCGA-13-0905-01B-01W-0492-08	88393056	153131183	2139377	61	5841											
KTI12	112970	hgsc.bcm.edu	37	1	52498572	52498572	+	Missense_Mutation	SNP	C	C	A	rs78775514	byFrequency	TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr1:52498572C>A	ENST00000371614.1	-	1	916	c.862G>T	c.(862-864)Gcg>Tcg	p.A288S	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	288							ATP binding (GO:0005524)	p.A288S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CTCTTCTGCGCTTCCATCAAT	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											102	109	107					1																	52498572		2203	4300	6503	52271160	SO:0001583	missense	112970				CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.862G>T	1.37:g.52498572C>A	ENSP00000360676:p.Ala288Ser		52271160		Missense_Mutation	SNP	ENST00000371614.1	37	CCDS562.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399162	0.62177	.	.	ENSG00000198841	ENST00000371614	T	0.33216	1.42	4.79	4.79	0.61399	.	0.195038	0.31847	U	0.006963	T	0.39937	0.1097	L	0.53249	1.67	0.41425	D	0.987828	D	0.52996	0.957	P	0.57324	0.818	T	0.08868	-1.0701	10	0.15952	T	0.53	.	10.5846	0.45275	0.0:0.9129:0.0:0.0871	.	288	Q96EK9	KTI12_HUMAN	S	288	ENSP00000360676:A288S	ENSP00000360676:A288S	A	-	1	0	KTI12	52271160	1.000000	0.71417	0.995000	0.50966	0.656000	0.38851	3.573000	0.53856	2.473000	0.83533	0.557000	0.71058	GCG		0.612	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		A	52498572	C	A	52498572	3	1	109	1	0	0	0	0	1	0	0	0	8584	797	28	3	206	3	KTI12	1	52498572	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10		52498572	196752049	1	5842											
TMEM48	55706	hgsc.bcm.edu	37	1	54262676	54262676	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr1:54262676A>T	ENST00000371429.3	-	12	1962	c.1364T>A	c.(1363-1365)gTa>gAa	p.V455E	NDC1_ENST00000537333.1_Missense_Mutation_p.V120E|NDC1_ENST00000540001.1_Missense_Mutation_p.V455E|NDC1_ENST00000234725.8_Missense_Mutation_p.V340E	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	455					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.V455E(1)									CCGATTCATTACACTAGAGCC	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											82	80	81					1																	54262676		2203	4300	6503	54035264	SO:0001583	missense	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1364T>A	1.37:g.54262676A>T	ENSP00000360483:p.Val455Glu		54035264	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.834248	0.50951	.	.	ENSG00000058804	ENST00000371429;ENST00000540001;ENST00000537333;ENST00000234725	T;T;T	0.53640	0.86;0.61;0.88	5.47	5.47	0.80525	.	0.430610	0.27084	N	0.021016	T	0.26412	0.0645	N	0.08118	0	0.09310	N	1	P;P	0.39920	0.695;0.695	B;P	0.45794	0.392;0.493	T	0.40478	-0.9561	10	0.02654	T	1	.	5.7707	0.18251	0.7458:0.1711:0.0831:0.0	.	415;455	B4DHA3;Q9BTX1	.;NDC1_HUMAN	E	455;455;120;340	ENSP00000360483:V455E;ENSP00000440873:V455E;ENSP00000234725:V340E	ENSP00000234725:V340E	V	-	2	0	TMEM48	54035264	0.985000	0.35326	0.165000	0.22776	0.924000	0.55760	2.664000	0.46783	2.313000	0.78055	0.454000	0.30748	GTA		0.448	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		T	54262676	A	T	54262676	3	4	109	1	0	0	0	0	1	0	0	0	16172	391	14	5	688	5	TMEM48	1	54262676	Missense_Mutation	SNP	A	TCGA-13-0906-01A-01W-0419-10	1764104	54262676	194987945	2	5843											
NBPF7	343505	hgsc.bcm.edu	37	1	120381827	120381827	+	IGR	SNP	T	T	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr1:120381827T>A								REG4 (27544 upstream) : ADAM30 (54328 downstream)														p.D273V(1)									GTTTAGAGCATCCTGCCATTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											156	158	157					1																	120381827		2137	4260	6397	120183350	SO:0001628	intergenic_variant	343505																															1.37:g.120381827T>A			120183350		Missense_Mutation	SNP		37																																																																																				0	0.408									A	120381827	T	A	120381827	1	1	109	0	1	0	0	0	0	0	0	0	10198	1435	50	5		5	NBPF7	1	120381827	IGR	SNP	T	TCGA-13-0906-01A-01W-0419-10	66119151	120381827	128868794	3	5844											
FLG2	388698	hgsc.bcm.edu	37	1	152323539	152323539	+	Silent	SNP	T	T	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr1:152323539T>C	ENST00000388718.5	-	3	6795	c.6723A>G	c.(6721-6723)acA>acG	p.T2241T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2241					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T2241T(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCTCTCTGTGTGGATTGTC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	1											379	355	363					1																	152323539		2203	4300	6503	150590163	SO:0001819	synonymous_variant	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6723A>G	1.37:g.152323539T>C			150590163	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152323539	T	C	152323539	2	2	109	1	0	0	0	0	0	0	0	1	5923	1683	59	4		4	FLG2	1	152323539	Silent	SNP	T	TCGA-13-0906-01A-01W-0419-10	31941712	152323539	96927082	4	5845											
CAMSAP1L1	23271	hgsc.bcm.edu	37	1	200818158	200818158	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr1:200818158G>T	ENST00000236925.4	+	12	2343	c.2294G>T	c.(2293-2295)aGg>aTg	p.R765M	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R754M|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R738M			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	765					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.R754M(1)									GTGCATCTTAGGATGAAACTA	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											74	80	78					1																	200818158		2203	4300	6503	199084781	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2294G>T	1.37:g.200818158G>T	ENSP00000236925:p.Arg765Met		199084781	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37		.	.	.	.	.	.	.	.	.	.	G	16.30	3.085867	0.55861	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.70282	-0.47;-0.47;-0.47	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.81211	0.4775	M	0.68317	2.08	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.996;0.999	D;P;D	0.66716	0.922;0.885;0.946	T	0.82623	-0.0366	10	0.66056	D	0.02	-17.2843	13.4879	0.61377	0.0752:0.0:0.9248:0.0	.	738;765;754	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	M	754;738;765	ENSP00000351684:R754M;ENSP00000416800:R738M;ENSP00000236925:R765M	ENSP00000236925:R765M	R	+	2	0	CAMSAP1L1	199084781	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	4.948000	0.63590	2.527000	0.85204	0.484000	0.47621	AGG		0.463	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		T	200818158	G	T	200818158	3	4	109	1	0	0	0	0	1	0	0	0	2612	1000	35	3	2303	3	CAMSAP1L1	1	200818158	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	48494619	200818158	48432463	5	5846											
RYR2	6262	hgsc.bcm.edu	37	1	237948208	237948208	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr1:237948208A>G	ENST00000366574.2	+	90	13513	c.13196A>G	c.(13195-13197)aAt>aGt	p.N4399S	RYR2_ENST00000360064.6_Missense_Mutation_p.N4405S|RYR2_ENST00000542537.1_Missense_Mutation_p.N4383S|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4399					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.N4397S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATAATCCAAATGCTGGGCTC	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											31	29	29					1																	237948208		1923	4133	6056	236014831	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13196A>G	1.37:g.237948208A>G	ENSP00000355533:p.Asn4399Ser		236014831	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	5.830	0.337409	0.11013	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.92647	-3.08;-3.08;-3.08	5.77	5.77	0.91146	Ryanodine Receptor TM 4-6 (1);	0.072721	0.50627	D	0.000110	D	0.83464	0.5260	N	0.08118	0	0.53005	D	0.999968	P;B	0.40578	0.722;0.004	B;B	0.43445	0.42;0.01	T	0.81967	-0.0690	10	0.09590	T	0.72	-20.355	12.0028	0.53241	0.8557:0.1442:0.0:0.0	.	1373;4399	B4DGV4;Q92736	.;RYR2_HUMAN	S	4399;4405;4383;1373	ENSP00000355533:N4399S;ENSP00000353174:N4405S;ENSP00000443798:N4383S	ENSP00000353174:N4405S	N	+	2	0	RYR2	236014831	1.000000	0.71417	0.630000	0.29268	0.421000	0.31385	5.425000	0.66470	2.199000	0.70637	0.533000	0.62120	AAT		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237948208	A	G	237948208	3	3	109	1	0	0	0	0	1	0	0	0	13772	101	4	4	13554	4	RYR2	1	237948208	Missense_Mutation	SNP	A	TCGA-13-0906-01A-01W-0419-10	37130050	237948208	11302413	6	5847											
C1orf101	257044	hgsc.bcm.edu	37	1	244747203	244747203	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr1:244747203C>A	ENST00000366534.4	+	13	2101	c.2047C>A	c.(2047-2049)Cct>Act	p.P683T	C1orf101_ENST00000366533.4_Missense_Mutation_p.P683T|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.P532T	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	683						CatSper complex (GO:0036128)		p.P683T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCAGTTTCGACCTAGTGAATA	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											96	78	84					1																	244747203		2203	4300	6503	242813826	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2047C>A	1.37:g.244747203C>A	ENSP00000355492:p.Pro683Thr		242813826	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431175	0.43122	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.87	2.97	0.34412	.	0.102825	0.43416	D	0.000567	T	0.39708	0.1088	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.76071	0.967;0.955;0.987;0.972	T	0.10989	-1.0606	10	0.33940	T	0.23	.	6.6177	0.22786	0.0:0.7225:0.1804:0.0971	.	603;683;683;532	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	T	683;683;683;603;532	ENSP00000355492:P683T;ENSP00000355491:P683T;ENSP00000395796:P603T;ENSP00000355489:P532T	ENSP00000355489:P532T	P	+	1	0	C1orf101	242813826	0.391000	0.25221	0.036000	0.18154	0.017000	0.09413	1.868000	0.39509	0.621000	0.30232	0.561000	0.74099	CCT		0.433	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		A	244747203	C	A	244747203	3	1	109	1	0	0	0	0	1	0	0	0	1976	507	18	3	2097	3	C1orf101	1	244747203	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	6798995	244747203	4503418	7	5848											
TPO	7173	hgsc.bcm.edu	37	2	1507747	1507747	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr2:1507747A>T	ENST00000345913.4	+	14	2505	c.2414A>T	c.(2413-2415)cAc>cTc	p.H805L	TPO_ENST00000346956.3_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.H632L|TPO_ENST00000329066.4_Missense_Mutation_p.H805L|TPO_ENST00000382201.3_Missense_Mutation_p.H748L|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.H632L|TPO_ENST00000337415.3_Missense_Mutation_p.H805L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	805	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.H805L(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGGTGCCCACCCCCCCTGC	0.642																																																1	Substitution - Missense(1)	ovary(1)	2											66	63	64					2																	1507747		2203	4300	6503	1486754	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2414A>T	2.37:g.1507747A>T	ENSP00000318820:p.His805Leu		1486754	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.010|0.010	-1.748311|-1.748311	0.00669|0.00669	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000425083|ENST00000446278	T;T;T;T;T;T;T|.	0.69806|.	-0.23;-0.24;-0.01;-0.24;-0.18;-0.01;-0.43|.	4.53|4.53	0.757|0.757	0.18427|0.18427	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	8.100430|.	0.00424|.	N|.	0.000068|.	T|T	0.09468|0.09468	0.0233|0.0233	N|N	0.01482|0.01482	-0.84|-0.84	0.09310|0.09310	N|N	1|1	B;B;B|.	0.06786|.	0.001;0.0;0.001|.	B;B;B|.	0.08055|.	0.003;0.0;0.001|.	T|T	0.35251|0.35251	-0.9796|-0.9796	10|5	0.37606|.	T|.	0.19|.	-9.7089|-9.7089	8.0354|8.0354	0.30488|0.30488	0.7505:0.0:0.2495:0.0|0.7505:0.0:0.2495:0.0	.|.	632;748;805|.	P07202-5;P07202-2;P07202|.	.;.;PERT_HUMAN|.	L|S	805;805;632;805;748;632;26|280	ENSP00000337263:H805L;ENSP00000318820:H805L;ENSP00000332044:H632L;ENSP00000329869:H805L;ENSP00000371636:H748L;ENSP00000371633:H632L;ENSP00000389659:H26L|.	ENSP00000329869:H805L|.	H|T	+|+	2|1	0|0	TPO|TPO	1486754|1486754	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.901000|0.901000	0.28445|0.28445	-0.102000|-0.102000	0.12197|0.12197	0.372000|0.372000	0.22366|0.22366	CAC|ACC		0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1507747	A	T	1507747	3	4	109	1	0	0	0	0	1	0	0	0	16410	159	6	5	2464	5	TPO	2	1507747	Missense_Mutation	SNP	A	TCGA-13-0906-01A-01W-0419-10		1507747	241691626	8	5849											
THADA	63892	hgsc.bcm.edu	37	2	43804363	43804363	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr2:43804363G>A	ENST00000405006.4	-	10	1186	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	THADA_ENST00000404790.1_Missense_Mutation_p.R279C|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000405975.2_Missense_Mutation_p.R279C|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000403856.1_Missense_Mutation_p.R279C|THADA_ENST00000402360.2_Missense_Mutation_p.R279C	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	279								p.R279C(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCACTGAACGAAGCAGCACA	0.433											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											23	24	24					2																	43804363		1956	4149	6105	43657867	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.835C>T	2.37:g.43804363G>A	ENSP00000385995:p.Arg279Cys	919	43657867	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	9.091	1.001823	0.19121	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.31510	2.94;2.94;1.53;1.52;1.49	5.28	2.41	0.29592	.	0.819220	0.11135	N	0.595896	T	0.20901	0.0503	L	0.28274	0.84	0.18873	N	0.999986	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.0	T	0.23013	-1.0200	10	0.37606	T	0.19	0.1858	8.1433	0.31097	0.1527:0.4762:0.3711:0.0	.	279;279;279;279	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	C	279	ENSP00000386088:R279C;ENSP00000385995:R279C;ENSP00000385441:R279C;ENSP00000384266:R279C;ENSP00000385469:R279C	ENSP00000349464:R279C	R	-	1	0	THADA	43657867	0.000000	0.05858	0.002000	0.10522	0.136000	0.21042	0.542000	0.23222	0.197000	0.20387	0.561000	0.74099	CGT		0.433	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		A	43804363	G	A	43804363	3	1	109	1	0	0	0	0	1	0	0	0	15840	1058	37	1	5142	1	THADA	2	43804363	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	42296616	43804363	199395010	9	5850	14	2									
THADA	63892	hgsc.bcm.edu	37	2	43804366	43804366	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr2:43804366G>A	ENST00000405006.4	-	10	1183	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	THADA_ENST00000404790.1_Missense_Mutation_p.L278F|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000405975.2_Missense_Mutation_p.L278F|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000403856.1_Missense_Mutation_p.L278F|THADA_ENST00000402360.2_Missense_Mutation_p.L278F	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	278								p.L278F(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACTGAACGAAGCAGCACACTG	0.428											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											23	24	24					2																	43804366		1952	4148	6100	43657870	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.832C>T	2.37:g.43804366G>A	ENSP00000385995:p.Leu278Phe	919	43657870	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214064	0.58452	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.34072	2.85;2.85;1.43;1.42;1.38	5.28	5.28	0.74379	.	0.507866	0.19950	N	0.102460	T	0.54159	0.1841	M	0.69823	2.125	0.52501	D	0.999953	D;D;D;D	0.89917	0.999;1.0;0.989;0.999	D;D;P;D	0.74348	0.983;0.97;0.843;0.933	T	0.47535	-0.9110	10	0.15066	T	0.55	-0.0021	11.9373	0.52880	0.1255:0.0:0.8745:0.0	.	278;278;278;278	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	F	278	ENSP00000386088:L278F;ENSP00000385995:L278F;ENSP00000385441:L278F;ENSP00000384266:L278F;ENSP00000385469:L278F	ENSP00000349464:L278F	L	-	1	0	THADA	43657870	0.971000	0.33674	0.046000	0.18839	0.121000	0.20230	5.445000	0.66594	2.464000	0.83262	0.561000	0.74099	CTT		0.428	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		A	43804366	G	A	43804366	3	1	109	1	0	0	0	0	1	0	0	0	15840	971	34	2	5145	2	THADA	2	43804366	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	3	43804366	199395007	10	5851	14	2									
ZEB2	9839	hgsc.bcm.edu	37	2	145156418	145156418	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr2:145156418C>T	ENST00000558170.2	-	8	3520	c.2336G>A	c.(2335-2337)aGg>aAg	p.R779K	ZEB2_ENST00000409487.3_Missense_Mutation_p.R779K|ZEB2_ENST00000303660.4_Missense_Mutation_p.R779K|ZEB2_ENST00000539609.3_Missense_Mutation_p.R755K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	779					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.R779K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGTATTACTCCTGGAGTGGTC	0.418																																					Melanoma(33;1235 1264 5755 16332)											1	Substitution - Missense(1)	ovary(1)	2											149	157	154					2																	145156418		2203	4299	6502	144872888	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2336G>A	2.37:g.145156418C>T	ENSP00000454157:p.Arg779Lys		144872888	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226014	0.79576	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14893	2.49;2.47;2.47	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.71581	2.175	0.80722	D	1	D;P;P;P	0.76494	0.999;0.956;0.956;0.956	D;D;D;D	0.79784	0.993;0.931;0.931;0.931	T	0.05225	-1.0898	10	0.27785	T	0.31	-10.4813	19.5998	0.95557	0.0:1.0:0.0:0.0	.	755;644;778;779	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	K	755;779;779	ENSP00000443792:R755K;ENSP00000302501:R779K;ENSP00000386854:R779K	ENSP00000302501:R779K	R	-	2	0	ZEB2	144872888	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.776000	0.85560	2.717000	0.92951	0.655000	0.94253	AGG		0.418	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		T	145156418	C	T	145156418	3	4	109	1	0	0	0	0	1	0	0	0	17624	681	24	2	1320	2	ZEB2	2	145156418	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	101352052	145156418	98042955	11	5852											
SPHKAP	80309	hgsc.bcm.edu	37	2	228883302	228883302	+	Silent	SNP	C	C	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr2:228883302C>T	ENST00000392056.3	-	7	2314	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P	SPHKAP_ENST00000344657.5_Silent_p.P756P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	756						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P756P(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACTAGCACCCGGATCAGATG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	2											155	154	154					2																	228883302		2203	4300	6503	228591546	SO:0001819	synonymous_variant	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2268G>A	2.37:g.228883302C>T			228591546	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.488	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228883302	C	T	228883302	2	4	109	1	0	0	0	0	0	0	0	1	15050	639	23	1		1	SPHKAP	2	228883302	Silent	SNP	C	TCGA-13-0906-01A-01W-0419-10	83726884	228883302	14316071	12	5853											
TRIP12	9320	hgsc.bcm.edu	37	2	230723854	230723854	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr2:230723854C>T	ENST00000283943.5	-	3	713	c.535G>A	c.(535-537)Gct>Act	p.A179T	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.A221T|TRIP12_ENST00000543084.1_Missense_Mutation_p.A221T|TRIP12_ENST00000409677.1_Missense_Mutation_p.A221T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	179					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.A179T(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GATTTTGAAGCCAGCTTGGTA	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											58	54	55					2																	230723854		2203	4300	6503	230432098	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.535G>A	2.37:g.230723854C>T	ENSP00000283943:p.Ala179Thr		230432098	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866311	0.91511	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485	T;T	0.52295	0.68;0.67	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	N	0.24115	0.695	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70935	0.971;0.971;0.971	T	0.54463	-0.8290	10	0.37606	T	0.19	.	19.8788	0.96888	0.0:1.0:0.0:0.0	.	179;221;179	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	179;221;221;221;49	ENSP00000283943:A179T;ENSP00000373696:A221T	ENSP00000283943:A179T	A	-	1	0	TRIP12	230432098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.704000	0.92352	0.563000	0.77884	GCT		0.502	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		T	230723854	C	T	230723854	3	4	109	1	0	0	0	0	1	0	0	0	16556	739	26	2	5599	2	TRIP12	2	230723854	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	1840552	230723854	12475519	13	5854											
DLEC1	9940	hgsc.bcm.edu	37	3	38139130	38139130	+	Splice_Site	SNP	T	T	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:38139130T>A	ENST00000308059.6	+	17	2586		c.e17+2		DLEC1_ENST00000452631.2_Splice_Site|DLEC1_ENST00000346219.3_Splice_Site					deleted in lung and esophageal cancer 1									p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTCTTTAAGGTGCTGCAGGTG	0.627																																																1	Unknown(1)	ovary(1)	3											43	47	46					3																	38139130		2087	4223	6310	38114134	SO:0001630	splice_region_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2565+2T>A	3.37:g.38139130T>A			38114134		Splice_Site	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562034	0.45590	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.562	0.61795	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DLEC1	38114134	1.000000	0.71417	0.992000	0.48379	0.312000	0.27988	5.551000	0.67274	1.909000	0.55274	0.456000	0.33151	.		0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	Intron	A	38139130	T	A	38139130	5	1	109	1	0	0	0	0	0	0	1	0	4552	1710	59	5	2633	5	DLEC1	3	38139130	Splice_Site	SNP	T	TCGA-13-0906-01A-01W-0419-10		38139130	159883300	14	5855											
IL17RD	54756	hgsc.bcm.edu	37	3	57135314	57135314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:57135314delG	ENST00000296318.7	-	11	1145	c.1057delC	c.(1057-1059)cggfs	p.R353fs	IL17RD_ENST00000463523.1_Frame_Shift_Del_p.R209fs|IL17RD_ENST00000320057.5_Frame_Shift_Del_p.R209fs|IL17RD_ENST00000427856.2_Frame_Shift_Del_p.R329fs	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	353					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R209fs*19(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GGCCGCGGCCGGAGCCTCTCT	0.463																																																1	Deletion - Frameshift(1)	ovary(1)	3											37	40	39					3																	57135314		2203	4300	6503	57110354	SO:0001589	frameshift_variant	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1057delC	3.37:g.57135314delG	ENSP00000296318:p.Arg353fs		57110354	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Frame_Shift_Del	DEL	ENST00000296318.7	37	CCDS2880.2																																																																																				0.463	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		-	57135314	G	-	57135314	7	5	109	1	0	1	0	1	0	0	0	0	7642	1115	39	0	1174	0	IL17RD	3	57135314	Frame_Shift_Del	DEL	G	TCGA-13-0906-01A-01W-0419-10	18996184	57135314	140887116	15	5856											
FLNB	2317	hgsc.bcm.edu	37	3	58108886	58108886	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:58108886A>C	ENST00000295956.4	+	21	3358	c.3193A>C	c.(3193-3195)Acc>Ccc	p.T1065P	FLNB_ENST00000490882.1_Missense_Mutation_p.T1065P|FLNB_ENST00000493452.1_Missense_Mutation_p.T896P|FLNB_ENST00000348383.5_Missense_Mutation_p.T1065P|FLNB_ENST00000358537.3_Missense_Mutation_p.T1065P|FLNB_ENST00000357272.4_Missense_Mutation_p.T1065P|FLNB_ENST00000429972.2_Missense_Mutation_p.T1065P|FLNB_ENST00000419752.2_Missense_Mutation_p.T896P	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1065					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.T1065P(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACCATCGATACCAAAGGAGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	3											147	134	138					3																	58108886		2203	4300	6503	58083926	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3193A>C	3.37:g.58108886A>C	ENSP00000295956:p.Thr1065Pro		58083926	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.890346	0.91889	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.66	5.66	0.87406	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96297	0.8792	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.996;0.999;0.999	D	0.97747	1.0212	10	0.62326	D	0.03	.	16.1911	0.81989	1.0:0.0:0.0:0.0	.	1065;1065;896;896;1065;1065	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	P	1065;1065;1065;1065;1065;1065;896;896	ENSP00000295956:T1065P;ENSP00000420213:T1065P;ENSP00000351339:T1065P;ENSP00000415599:T1065P;ENSP00000232447:T1065P;ENSP00000349819:T1065P;ENSP00000418510:T896P;ENSP00000414532:T896P	ENSP00000295956:T1065P	T	+	1	0	FLNB	58083926	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.283000	0.95860	2.278000	0.76064	0.533000	0.62120	ACC		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		C	58108886	A	C	58108886	3	2	109	1	0	0	0	0	1	0	0	0	5934	391	14	5	3275	5	FLNB	3	58108886	Missense_Mutation	SNP	A	TCGA-13-0906-01A-01W-0419-10	973572	58108886	139913544	16	5857											
BOC	91653	hgsc.bcm.edu	37	3	113002293	113002293	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:113002293C>A	ENST00000495514.1	+	16	3171	c.2467C>A	c.(2467-2469)Ccc>Acc	p.P823T	BOC_ENST00000355385.3_Missense_Mutation_p.P823T|BOC_ENST00000273395.4_Missense_Mutation_p.P824T			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	823					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P823T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCGACTGCCACCCCCAACTCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	3											95	111	105					3																	113002293		2203	4300	6503	114484983	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2467C>A	3.37:g.113002293C>A	ENSP00000418663:p.Pro823Thr		114484983	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	5.556	0.287371	0.10513	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.60040	0.22;0.23;0.22	5.85	5.85	0.93711	.	0.394019	0.28365	N	0.015612	T	0.52025	0.1709	L	0.46157	1.445	0.43342	D	0.995391	B;B;B	0.16166	0.016;0.004;0.002	B;B;B	0.24006	0.05;0.008;0.004	T	0.41980	-0.9478	10	0.23302	T	0.38	.	14.9374	0.70967	0.1429:0.8571:0.0:0.0	.	640;824;823	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	T	823;824;823	ENSP00000418663:P823T;ENSP00000273395:P824T;ENSP00000347546:P823T	ENSP00000273395:P824T	P	+	1	0	BOC	114484983	0.895000	0.30542	0.991000	0.47740	0.020000	0.10135	1.624000	0.37018	2.767000	0.95098	0.655000	0.94253	CCC		0.557	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		A	113002293	C	A	113002293	3	1	109	1	0	0	0	0	1	0	0	0	1481	507	18	3	2521	3	BOC	3	113002293	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	54893407	113002293	85020137	17	5858											
COL6A6	131873	hgsc.bcm.edu	37	3	130340682	130340690	+	In_Frame_Del	DEL	AGGAGAGGC	AGGAGAGGC	-	rs201892096	byFrequency	TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	AGGAGAGGC	AGGAGAGGC	AGGAGAGGC	-	AGGAGAGGC	AGGAGAGGC	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:130340682_130340690delAGGAGAGGC	ENST00000358511.6	+	23	4864_4872	c.4833_4841delAGGAGAGGC	c.(4831-4842)ggaggagaggca>gga	p.GEA1612del	COL6A6_ENST00000453409.2_In_Frame_Del_p.GEA1612del	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1612	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E1613_G1615del(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGGACCCGGAGGAGAGGCAGGGAATCAA	0.431																																																1	Deletion - In frame(1)	ovary(1)	3																																								131823380	SO:0001651	inframe_deletion	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4833_4841delAGGAGAGGC	3.37:g.130340682_130340690delAGGAGAGGC	ENSP00000351310:p.Gly1612_Ala1614del		131823372	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	In_Frame_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.431	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		-	130340690	AGGAGAGGC	-	130340682	7	5	109	1	0	1	0	1	0	0	0	0	3703	291	11	0	4923	0	COL6A6	3	130340682	In_Frame_Del	DEL	AGGAGAGGC	TCGA-13-0906-01A-01W-0419-10	17338389	130340682	67681748	18	5859											
PCCB	5096	hgsc.bcm.edu	37	3	136048831	136048845	+	In_Frame_Del	DEL	AACGTCCTTGGAGAA	AACGTCCTTGGAGAA	-			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	AACGTCCTTGGAGAA	AACGTCCTTGGAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:136048831_136048845delAACGTCCTTGGAGAA	ENST00000251654.4	+	15	1653_1667	c.1583_1597delAACGTCCTTGGAGAA	c.(1582-1599)caacgtccttggagaaaa>caa	p.RPWRK529del	PCCB_ENST00000466072.1_In_Frame_Del_p.RPWRK549del|PCCB_ENST00000469217.1_In_Frame_Del_p.RPWRK549del|PCCB_ENST00000468777.1_In_Frame_Del_p.RPWRK560del|PCCB_ENST00000483687.1_In_Frame_Del_p.RPWRK510del|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000471595.1_Intron|PCCB_ENST00000462637.1_In_Frame_Del_p.RPWRK506del|PCCB_ENST00000490504.1_In_Frame_Del_p.RPWRK472del|PCCB_ENST00000482086.1_In_Frame_Del_p.RPWRK413del	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	529	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.R529_K533delRPWRK(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	AAGAAGGTACAACGTCCTTGGAGAAAACATGCAAA	0.442																																																1	Deletion - In frame(1)	ovary(1)	3	GRCh37	CM981495	PCCB	M																																				137531535	SO:0001651	inframe_deletion	5096				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"propionyl Coenzyme A carboxylase, beta polypeptide"			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1583_1597delAACGTCCTTGGAGAA	3.37:g.136048831_136048845delAACGTCCTTGGAGAA	ENSP00000251654:p.Arg529_Lys533del		137531521	B7Z2Z4|Q16813|Q96CX0	In_Frame_Del	DEL	ENST00000251654.4	37	CCDS3089.1																																																																																				0.442	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			-	136048845	AACGTCCTTGGAGAA	-	136048831	7	5	109	1	0	1	0	1	0	0	0	0	11505	130	5	0	1705	0	PCCB	3	136048831	In_Frame_Del	DEL	AACGTCCTTGGAGAA	TCGA-13-0906-01A-01W-0419-10	5708149	136048831	61973599	19	5860											
TRIM42	287015	hgsc.bcm.edu	37	3	140406783	140406783	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:140406783T>C	ENST00000286349.3	+	3	1450	c.1259T>C	c.(1258-1260)gTg>gCg	p.V420A		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	420						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V420A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACCATGAAAGTGAACGAGATG	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											95	90	91					3																	140406783		2203	4300	6503	141889473	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1259T>C	3.37:g.140406783T>C	ENSP00000286349:p.Val420Ala		141889473	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854377	0.32791	.	.	ENSG00000155890	ENST00000286349	T	0.39056	1.1	5.33	5.33	0.75918	.	0.238378	0.29212	N	0.012808	T	0.27241	0.0668	N	0.14661	0.345	0.30224	N	0.796555	P	0.42409	0.779	B	0.38755	0.281	T	0.28202	-1.0051	10	0.66056	D	0.02	-28.4811	11.987	0.53153	0.0:0.0:0.0:1.0	.	420	Q8IWZ5	TRI42_HUMAN	A	420	ENSP00000286349:V420A	ENSP00000286349:V420A	V	+	2	0	TRIM42	141889473	0.966000	0.33281	0.926000	0.36857	0.297000	0.27493	4.936000	0.63506	2.162000	0.67917	0.454000	0.30748	GTG		0.473	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		C	140406783	T	C	140406783	3	2	109	1	0	0	0	0	1	0	0	0	16517	1696	59	4	1269	4	TRIM42	3	140406783	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	4357952	140406783	57615647	20	5861											
CCDC39	339829	hgsc.bcm.edu	37	3	180366022	180366022	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:180366022T>A	ENST00000442201.2	-	10	1412	c.1293A>T	c.(1291-1293)aaA>aaT	p.K431N	CCDC39_ENST00000273654.4_Missense_Mutation_p.K515N	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	431					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.K515N(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGTTGAGATGTTTCAGAGAGG	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											121	112	115					3																	180366022		1834	4082	5916	181848716	SO:0001583	missense	339829			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1293A>T	3.37:g.180366022T>A	ENSP00000405708:p.Lys431Asn		181848716	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453849	0.63290	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.78595	-1.19;-1.19	5.37	-1.19	0.09585	.	0.318283	0.34580	N	0.003849	T	0.72095	0.3418	M	0.82323	2.585	0.30352	N	0.784672	P	0.39352	0.669	B	0.30943	0.122	T	0.70226	-0.4930	10	0.41790	T	0.15	-23.213	11.8579	0.52449	0.0:0.6163:0.0:0.3837	.	431	Q9UFE4	CCD39_HUMAN	N	515;431	ENSP00000273654:K515N;ENSP00000405708:K431N	ENSP00000273654:K515N	K	-	3	2	CCDC39	181848716	0.995000	0.38212	0.992000	0.48379	0.961000	0.63080	0.169000	0.16641	-0.085000	0.12573	-0.379000	0.06801	AAA		0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		A	180366022	T	A	180366022	3	1	109	1	0	0	0	0	1	0	0	0	2811	1722	60	5	1576	5	CCDC39	3	180366022	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	39959239	180366022	17656408	21	5862											
TBCCD1	55171	hgsc.bcm.edu	37	3	186276355	186276355	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:186276355C>A	ENST00000424280.1	-	3	822	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L	TBCCD1_ENST00000338733.5_Missense_Mutation_p.V115L|TBCCD1_ENST00000446782.1_Missense_Mutation_p.V19L	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	115					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)		p.V115L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGCGTGTCCACTGAAAGCTGT	0.393																																																1	Substitution - Missense(1)	ovary(1)	3											71	68	69					3																	186276355		2203	4300	6503	187759049	SO:0001583	missense	55171			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.343G>T	3.37:g.186276355C>A	ENSP00000411253:p.Val115Leu		187759049	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241415	0.95272	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782;ENST00000413695	T;T;D;T	0.89050	0.99;0.99;-2.46;0.99	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.93455	0.7912	M	0.77103	2.36	0.58432	D	0.999999	D;P	0.61697	0.99;0.929	P;P	0.60173	0.87;0.714	D	0.93326	0.6697	10	0.51188	T	0.08	-13.6493	17.0549	0.86531	0.0:1.0:0.0:0.0	.	19;115	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	L	115;115;19;115	ENSP00000411253:V115L;ENSP00000341652:V115L;ENSP00000397091:V19L;ENSP00000391109:V115L	ENSP00000341652:V115L	V	-	1	0	TBCCD1	187759049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.660000	0.68018	2.689000	0.91719	0.655000	0.94253	GTG		0.393	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		A	186276355	C	A	186276355	3	1	109	1	0	0	0	0	1	0	0	0	15632	565	20	3	1350	3	TBCCD1	3	186276355	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	5910333	186276355	11746075	22	5863											
ATP13A4	84239	hgsc.bcm.edu	37	3	193210932	193210932	+	Silent	SNP	C	C	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr3:193210932C>A	ENST00000342695.4	-	4	721	c.399G>T	c.(397-399)gtG>gtT	p.V133V	ATP13A4_ENST00000295548.3_Silent_p.V133V|ATP13A4_ENST00000392443.3_Silent_p.V133V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	133						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.V133V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTATTTTCTGCACTTTGATGC	0.358																																																1	Substitution - coding silent(1)	ovary(1)	3											87	83	84					3																	193210932		2201	4298	6499	194693626	SO:0001819	synonymous_variant	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.399G>T	3.37:g.193210932C>A			194693626	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	CCDS3304.2																																																																																				0.358	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		A	193210932	C	A	193210932	2	1	109	1	0	0	0	0	0	0	0	1	1126	697	25	3		3	ATP13A4	3	193210932	Silent	SNP	C	TCGA-13-0906-01A-01W-0419-10	6934577	193210932	4811498	23	5864											
ADD1	118	hgsc.bcm.edu	37	4	2928383	2928383	+	Intron	SNP	A	A	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr4:2928383A>C	ENST00000398129.1	+	13	1881				ADD1_ENST00000446856.1_Intron|ADD1_ENST00000503455.2_Silent_p.R658R|ADD1_ENST00000264758.7_Intron|ADD1_ENST00000398123.2_Silent_p.R657R|ADD1_ENST00000355842.3_Silent_p.R657R|ADD1_ENST00000513328.2_Silent_p.R627R|ADD1_ENST00000398125.1_Silent_p.R657R			P35611	ADDA_HUMAN	adducin 1 (alpha)						actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGATGCGCTAGAGAGTACCT	0.498																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0			4											62	64	63					4																	2928383		2051	4212	6263	2898181	SO:0001627	intron_variant	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1861+544A>C	4.37:g.2928383A>C			2898181	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	CCDS43205.1																																																																																				0.498	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		C	2928383	A	C	2928383	1	2	109	0	1	0	0	0	0	0	0	0	304	412	15	5		5	ADD1	4	2928383	Intron	SNP	A	TCGA-13-0906-01A-01W-0419-10		2928383	188225893	24	5865											
SRP72	6731	hgsc.bcm.edu	37	4	57354131	57354131	+	Silent	SNP	A	A	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr4:57354131A>C	ENST00000342756.5	+	12	1897	c.1176A>C	c.(1174-1176)gcA>gcC	p.A392A	SRP72_ENST00000510663.1_Silent_p.A331A	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	392					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.A392A(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TTTCTAAAGCATGTCTAATAT	0.274																																																1	Substitution - coding silent(1)	ovary(1)	4											52	54	54					4																	57354131		2198	4283	6481	57048888	SO:0001819	synonymous_variant	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1176A>C	4.37:g.57354131A>C			57048888	G5E9Z8|Q7Z3C0	Silent	SNP	ENST00000342756.5	37	CCDS3506.1																																																																																				0.274	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			C	57354131	A	C	57354131	2	2	109	1	0	0	0	0	0	0	0	1	15159	204	8	5		5	SRP72	4	57354131	Silent	SNP	A	TCGA-13-0906-01A-01W-0419-10	54425748	57354131	133800145	25	5866											
USO1	8615	hgsc.bcm.edu	37	4	76708345	76708345	+	Missense_Mutation	SNP	T	T	C	rs200526658		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr4:76708345T>C	ENST00000538159.1	+	10	992	c.992T>C	c.(991-993)aTc>aCc	p.I331T	USO1_ENST00000514213.2_Missense_Mutation_p.I314T			O60763	USO1_HUMAN	USO1 vesicle transport factor	329	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.I257T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTGCTGATATCCTGACTGAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	4						T	THR/ILE	2,3702		0,2,1850	151	146	147		863	5.8	1	4		147	3,8215		0,3,4106	yes	missense	USO1	NM_003715.2	89	0,5,5956	CC,CT,TT		0.0365,0.054,0.0419	possibly-damaging	288/922	76708345	5,11917	1852	4109	5961	76927369	SO:0001583	missense	8615			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.992T>C	4.37:g.76708345T>C	ENSP00000440586:p.Ile331Thr		76927369	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37		.	.	.	.	.	.	.	.	.	.	T	25.3	4.628905	0.87560	5.4E-4	3.65E-4	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.66995	-0.24;-0.24	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84023	0.5381	M	0.87758	2.905	0.80722	D	1	D;P	0.61697	0.99;0.954	P;D	0.74674	0.907;0.984	D	0.86936	0.2076	10	0.87932	D	0	.	16.1467	0.81577	0.0:0.0:0.0:1.0	.	331;329	F5GYR8;O60763	.;USO1_HUMAN	T	164;331;314;257	ENSP00000440586:I331T;ENSP00000444850:I314T	ENSP00000264904:I257T	I	+	2	0	USO1	76927369	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.401000	0.79962	2.212000	0.71576	0.533000	0.62120	ATC		0.438	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		C	76708345	T	C	76708345	3	2	109	1	0	0	0	0	1	0	0	0	17039	1435	50	4	865	4	USO1	4	76708345	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	19354214	76708345	114445931	26	5867											
BMP2K	55589	hgsc.bcm.edu	37	4	79786720	79786720	+	Silent	SNP	T	T	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr4:79786720T>C	ENST00000335016.5	+	10	1243	c.1077T>C	c.(1075-1077)gaT>gaC	p.D359D	BMP2K_ENST00000502871.1_Silent_p.D359D	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	359					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.D359D(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GAATAACAGATACCATTGGAC	0.363																																																1	Substitution - coding silent(1)	ovary(1)	4											96	90	92					4																	79786720		2203	4300	6503	80005744	SO:0001819	synonymous_variant	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1077T>C	4.37:g.79786720T>C			80005744	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	T	9.025	0.985794	0.18889	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.26	2.82	0.32997	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	-15.5031	9.6777	0.40050	0.0:0.1418:0.0:0.8582	.	.	.	.	H	52	.	.	Y	+	1	0	BMP2K	80005744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.660000	0.37397	0.413000	0.25759	0.533000	0.62120	TAC		0.363	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		C	79786720	T	C	79786720	2	2	109	1	0	0	0	0	0	0	0	1	1460	1403	49	4		4	BMP2K	4	79786720	Silent	SNP	T	TCGA-13-0906-01A-01W-0419-10	3078375	79786720	111367556	27	5868											
GLRA3	8001	hgsc.bcm.edu	37	4	175710033	175710033	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr4:175710033C>G	ENST00000274093.3	-	2	635	c.133G>C	c.(133-135)Gat>Cat	p.D45H	GLRA3_ENST00000340217.5_Missense_Mutation_p.D45H	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	45					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.D45H(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TCCAGAAAATCAGAAGGTGAC	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											99	95	96					4																	175710033		2203	4300	6503	175946608	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.133G>C	4.37:g.175710033C>G	ENSP00000274093:p.Asp45His		175946608	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637059	0.87760	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.78481	-1.18;-1.18	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.87091	0.6091	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.983;0.984	D	0.87391	0.2363	10	0.59425	D	0.04	.	18.8584	0.92262	0.0:1.0:0.0:0.0	.	45;45	O75311-2;O75311	.;GLRA3_HUMAN	H	45	ENSP00000274093:D45H;ENSP00000345284:D45H	ENSP00000274093:D45H	D	-	1	0	GLRA3	175946608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.220000	0.78008	2.765000	0.95021	0.555000	0.69702	GAT		0.348	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			G	175710033	C	G	175710033	3	3	109	1	0	0	0	0	1	0	0	0	6456	826	29	3	1297	3	GLRA3	4	175710033	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	95923313	175710033	15444243	28	5869											
AP3S1	1176	hgsc.bcm.edu	37	5	115230798	115230800	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	ATT	ATT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr5:115230798_115230800delATT	ENST00000316788.7	+	4	845_847	c.288_290delATT	c.(286-291)acatta>aca	p.L97del	AP3S1_ENST00000505423.1_3'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	97					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.L97delL(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTGTGGAAACATTAGACAAATGT	0.271																																																1	Deletion - In frame(1)	ovary(1)	5																																								115258699	SO:0001651	inframe_deletion	1176			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.288_290delATT	5.37:g.115230798_115230800delATT	ENSP00000325369:p.Leu97del		115258697	O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	In_Frame_Del	DEL	ENST00000316788.7	37	CCDS4123.1																																																																																				0.271	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			-	115230800	ATT	-	115230798	7	5	109	1	0	1	0	1	0	0	0	0	749	204	8	0	302	0	AP3S1	5	115230798	In_Frame_Del	DEL	ATT	TCGA-13-0906-01A-01W-0419-10		115230798	65684462	29	5870											
CDHR2	54825	hgsc.bcm.edu	37	5	175995802	175995802	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr5:175995802G>T	ENST00000510636.1	+	4	522	c.248G>T	c.(247-249)aGc>aTc	p.S83I	CDHR2_ENST00000261944.5_Missense_Mutation_p.S83I|CDHR2_ENST00000506348.1_Missense_Mutation_p.S83I	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	83	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S83I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AAGCTGGCCAGCGCTCTGGAC	0.647																																																1	Substitution - Missense(1)	ovary(1)	5											79	81	80					5																	175995802		2203	4300	6503	175928408	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.248G>T	5.37:g.175995802G>T	ENSP00000424565:p.Ser83Ile		175928408	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	5.856	0.342059	0.11069	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61627	0.09;0.09;0.09	4.8	-0.598	0.11649	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48447	0.1500	M	0.79926	2.475	0.09310	N	1	P	0.34462	0.454	B	0.29785	0.107	T	0.46020	-0.9221	9	0.39692	T	0.17	-6.8967	0.3609	0.00364	0.2366:0.1553:0.292:0.3162	.	83	Q9BYE9	CDHR2_HUMAN	I	83	ENSP00000424565:S83I;ENSP00000261944:S83I;ENSP00000421078:S83I	ENSP00000261944:S83I	S	+	2	0	CDHR2	175928408	0.000000	0.05858	0.741000	0.31004	0.038000	0.13279	-0.465000	0.06680	0.095000	0.17434	-0.314000	0.08810	AGC		0.647	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		T	175995802	G	T	175995802	3	4	109	1	0	0	0	0	1	0	0	0	3119	971	34	3	258	3	CDHR2	5	175995802	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	60765004	175995802	4919458	30	5871											
PHACTR1	221692	hgsc.bcm.edu	37	6	12749987	12749987	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr6:12749987T>C	ENST00000379350.1	+	3	344	c.215T>C	c.(214-216)cTc>cCc	p.L72P	PHACTR1_ENST00000379348.2_Missense_Mutation_p.L72P|PHACTR1_ENST00000332995.7_Missense_Mutation_p.L72P			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	72					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.L72P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ACGCCGTACCTCGCAGAGGCC	0.677																																																1	Substitution - Missense(1)	ovary(1)	6											29	34	32					6																	12749987		1858	4077	5935	12857973	SO:0001583	missense	221692			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.215T>C	6.37:g.12749987T>C	ENSP00000368655:p.Leu72Pro		12857973	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37		.	.	.	.	.	.	.	.	.	.	T	25.2	4.618007	0.87359	.	.	ENSG00000112137	ENST00000379350;ENST00000379348;ENST00000332995;ENST00000432934	T;T;T	0.49139	0.79;0.79;0.79	4.61	4.61	0.57282	.	0.212757	0.30201	N	0.010177	T	0.46328	0.1387	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.995;0.997	D;D;P;D	0.76575	0.916;0.988;0.829;0.918	T	0.54549	-0.8277	10	0.87932	D	0	.	13.1678	0.59581	0.0:0.0:0.0:1.0	.	72;72;72;72	E7ESR5;Q5R356;Q9C0D0;Q9C0D0-2	.;.;PHAR1_HUMAN;.	P	72	ENSP00000368655:L72P;ENSP00000368653:L72P;ENSP00000329880:L72P	ENSP00000329880:L72P	L	+	2	0	PHACTR1	12857973	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.565000	0.67365	1.704000	0.51252	0.260000	0.18958	CTC		0.677	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		C	12749987	T	C	12749987	3	2	109	1	0	0	0	0	1	0	0	0	11809	1551	54	4	221	4	PHACTR1	6	12749987	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10		12749987	158365080	31	5872											
FRS3	10817	hgsc.bcm.edu	37	6	41740590	41740590	+	Missense_Mutation	SNP	G	G	A	rs545980178		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr6:41740590G>A	ENST00000373018.3	-	5	612	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	FRS3_ENST00000259748.2_Missense_Mutation_p.R121C	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	121					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)	p.R121C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCTATTGCGGGTGATGATG	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		16216	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6											124	125	125					6																	41740590		2203	4300	6503	41848568	SO:0001583	missense	10817			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.361C>T	6.37:g.41740590G>A	ENSP00000362109:p.Arg121Cys		41848568	Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337540	0.81911	.	.	ENSG00000137218	ENST00000373018;ENST00000259748;ENST00000426290	D;D	0.82711	-1.64;-1.64	5.46	3.49	0.39957	.	0.207707	0.33875	N	0.004468	D	0.86847	0.6031	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86363	0.1718	10	0.52906	T	0.07	-37.7643	12.373	0.55265	0.0:0.0:0.6461:0.3539	.	121	O43559	FRS3_HUMAN	C	121;121;145	ENSP00000362109:R121C;ENSP00000259748:R121C	ENSP00000259748:R121C	R	-	1	0	FRS3	41848568	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.032000	0.57274	2.573000	0.86826	0.655000	0.94253	CGC		0.547	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		A	41740590	G	A	41740590	3	1	109	1	0	0	0	0	1	0	0	0	6062	1116	39	1	1129	1	FRS3	6	41740590	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	28990603	41740590	129374477	32	5873											
USP49	25862	hgsc.bcm.edu	37	6	41773380	41773380	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr6:41773380G>T	ENST00000394253.3	-	3	1671	c.1342C>A	c.(1342-1344)Cag>Aag	p.Q448K	USP49_ENST00000373009.3_Missense_Mutation_p.Q448K|USP49_ENST00000373010.1_Missense_Mutation_p.Q448K|USP49_ENST00000297229.2_Missense_Mutation_p.Q448K|USP49_ENST00000373006.1_Missense_Mutation_p.Q448K			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	448	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.Q448K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAGCAGCTGCCCATGAAAT	0.522																																																1	Substitution - Missense(1)	ovary(1)	6											91	81	85					6																	41773380		2203	4300	6503	41881358	SO:0001583	missense	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1342C>A	6.37:g.41773380G>T	ENSP00000377797:p.Gln448Lys		41881358	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	G	13.59	2.284042	0.40394	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	L	0.38649	1.16	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.05500	-1.0881	10	0.36615	T	0.2	-15.2408	18.9158	0.92505	0.0:0.0:1.0:0.0	.	448	Q70CQ1-2	.	K	448	ENSP00000377797:Q448K;ENSP00000362101:Q448K;ENSP00000362100:Q448K;ENSP00000362097:Q448K;ENSP00000297229:Q448K	ENSP00000297229:Q448K	Q	-	1	0	USP49	41881358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.572000	0.86782	0.655000	0.94253	CAG		0.522	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		T	41773380	G	T	41773380	3	4	109	1	0	0	0	0	1	0	0	0	17080	1328	46	3	596	3	USP49	6	41773380	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	32790	41773380	129341687	33	5874											
SLC29A1	2030	hgsc.bcm.edu	37	6	44197351	44197351	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr6:44197351C>T	ENST00000393841.1	+	5	628	c.137C>T	c.(136-138)tCc>tTc	p.S46F	SLC29A1_ENST00000371724.1_Missense_Mutation_p.S46F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371713.1_Missense_Mutation_p.S46F|SLC29A1_ENST00000313248.7_Missense_Mutation_p.S125F|SLC29A1_ENST00000371755.3_Missense_Mutation_p.S46F|SLC29A1_ENST00000393844.1_Missense_Mutation_p.S46F|SLC29A1_ENST00000371740.5_Missense_Mutation_p.S46F|SLC29A1_ENST00000371731.1_Missense_Mutation_p.S46F|SLC29A1_ENST00000371708.1_Missense_Mutation_p.S46F|SLC29A1_ENST00000427851.2_Missense_Mutation_p.S46F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	46					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.S46F(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CTGGACATGTCCCAGAATGTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	6											101	97	98					6																	44197351		2203	4300	6503	44305329	SO:0001583	missense	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.137C>T	6.37:g.44197351C>T	ENSP00000377424:p.Ser46Phe		44305329	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502552	0.64298	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.48	3.57	0.40892	.	0.703382	0.14395	N	0.322298	T	0.79028	0.4377	M	0.78637	2.42	0.09310	N	1	P;P;B;B	0.45902	0.797;0.868;0.07;0.07	B;B;B;B	0.43680	0.201;0.427;0.068;0.022	T	0.71823	-0.4476	10	0.62326	D	0.03	-12.3362	9.8198	0.40876	0.1575:0.6907:0.1518:0.0	.	46;65;125;46	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	F	65;46;125;46;46;46;46;46;46;46;46	ENSP00000377427:S46F;ENSP00000319152:S125F;ENSP00000392668:S46F;ENSP00000360820:S46F;ENSP00000360805:S46F;ENSP00000360796:S46F;ENSP00000377424:S46F;ENSP00000360789:S46F;ENSP00000360778:S46F;ENSP00000360773:S46F	ENSP00000319152:S125F	S	+	2	0	SLC29A1	44305329	0.000000	0.05858	0.150000	0.22450	0.979000	0.70002	0.266000	0.18534	1.294000	0.44707	0.563000	0.77884	TCC		0.567	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			T	44197351	C	T	44197351	3	4	109	1	0	0	0	0	1	0	0	0	14537	855	30	2	147	2	SLC29A1	6	44197351	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	2423971	44197351	126917716	34	5875											
MCM3	4172	hgsc.bcm.edu	37	6	52138563	52138563	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr6:52138563G>A	ENST00000229854.7	-	10	1602	c.1526C>T	c.(1525-1527)gCa>gTa	p.A509V	MCM3_ENST00000419835.2_Missense_Mutation_p.A463V|MCM3_ENST00000476448.1_5'Flank|MCM3_ENST00000596288.1_Missense_Mutation_p.A554V			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	509					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.A509V(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTCCCCAGGTGCTCTGTAACG	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											125	97	107					6																	52138563		2203	4300	6503	52246522	SO:0001583	missense	4172			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1526C>T	6.37:g.52138563G>A	ENSP00000229854:p.Ala509Val		52246522	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37		.	.	.	.	.	.	.	.	.	.	G	15.82	2.945369	0.53079	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.32515	3.25;3.25;1.45	5.31	5.31	0.75309	.	0.206693	0.49305	D	0.000155	T	0.14743	0.0356	L	0.34521	1.04	0.39497	D	0.968143	B;B	0.30727	0.034;0.292	B;B	0.33121	0.044;0.158	T	0.03761	-1.1006	10	0.30078	T	0.28	-9.576	14.977	0.71281	0.0:0.0:0.8487:0.1513	.	463;509	B4DUQ9;P25205	.;MCM3_HUMAN	V	509;6;463;4	ENSP00000229854:A509V;ENSP00000388647:A463V;ENSP00000407651:A4V	ENSP00000229854:A509V	A	-	2	0	MCM3	52246522	0.994000	0.37717	0.987000	0.45799	0.982000	0.71751	2.742000	0.47434	2.759000	0.94783	0.563000	0.77884	GCA		0.507	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			A	52138563	G	A	52138563	3	1	109	1	0	0	0	0	1	0	0	0	9387	1319	46	2	932	2	MCM3	6	52138563	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	7941212	52138563	118976504	35	5876											
HECW1	23072	hgsc.bcm.edu	37	7	43484201	43484201	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr7:43484201A>G	ENST00000395891.2	+	11	2035	c.1430A>G	c.(1429-1431)gAa>gGa	p.E477G	HECW1_ENST00000453890.1_Missense_Mutation_p.E477G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	477	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E456G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAAGACGGTGAAGCCCCAGCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	7											15	18	17					7																	43484201		2075	4218	6293	43450726	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1430A>G	7.37:g.43484201A>G	ENSP00000379228:p.Glu477Gly		43450726	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	8.730	0.916329	0.17907	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.34472	1.38;1.36	4.74	0.731	0.18277	.	8.377290	0.00166	N	0.000000	T	0.25158	0.0611	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08207	-1.0733	10	0.28530	T	0.3	.	1.4845	0.02444	0.4354:0.2758:0.1621:0.1267	.	477;477	B4DH42;Q76N89	.;HECW1_HUMAN	G	477	ENSP00000379228:E477G;ENSP00000407774:E477G	ENSP00000265522:E477G	E	+	2	0	HECW1	43450726	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.351000	0.20096	-0.054000	0.13266	0.459000	0.35465	GAA		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		G	43484201	A	G	43484201	3	3	109	1	0	0	0	0	1	0	0	0	7042	246	9	4	1464	4	HECW1	7	43484201	Missense_Mutation	SNP	A	TCGA-13-0906-01A-01W-0419-10		43484201	115654462	36	5877											
COBL	23242	hgsc.bcm.edu	37	7	51095861	51095861	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr7:51095861G>T	ENST00000265136.7	-	10	3097	c.2932C>A	c.(2932-2934)Ctg>Atg	p.L978M	COBL_ENST00000395542.2_Missense_Mutation_p.L1060M	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	978					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.L978M(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GACTGAACCAGTGAGAAACAG	0.557																																					NSCLC(189;2119 2138 12223 30818 34679)											1	Substitution - Missense(1)	ovary(1)	7											73	68	70					7																	51095861		2203	4300	6503	51063355	SO:0001583	missense	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2932C>A	7.37:g.51095861G>T	ENSP00000265136:p.Leu978Met		51063355	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134880	0.37728	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.14022	2.54;2.54;2.55;2.55	5.31	2.41	0.29592	.	1.963370	0.02672	N	0.108703	T	0.22859	0.0552	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D	0.65815	0.986;0.986;0.976;0.993;0.995	P;P;P;P;P	0.59487	0.855;0.855;0.556;0.858;0.834	T	0.20075	-1.0286	10	0.33940	T	0.23	.	7.8977	0.29717	0.1496:0.1316:0.7188:0.0	.	978;1035;978;1060;520	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	M	978;870;863;1060	ENSP00000265136:L978M;ENSP00000401204:L870M;ENSP00000413498:L863M;ENSP00000378912:L1060M	ENSP00000265136:L978M	L	-	1	2	COBL	51063355	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.756000	0.26419	0.586000	0.29626	0.563000	0.77884	CTG		0.557	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		T	51095861	G	T	51095861	3	4	109	1	0	0	0	0	1	0	0	0	3653	1020	36	3	869	3	COBL	7	51095861	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	7611660	51095861	108042802	37	5878											
ADAM22	53616	hgsc.bcm.edu	37	7	87563789	87563789	+	Silent	SNP	G	G	A	rs368425480		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr7:87563789G>A	ENST00000265727.7	+	1	88	c.9G>A	c.(7-9)gcG>gcA	p.A3A	ADAM22_ENST00000398209.3_Silent_p.A3A|ADAM22_ENST00000439864.1_Silent_p.A3A|ADAM22_ENST00000315984.7_Silent_p.A3A|ADAM22_ENST00000398201.4_Silent_p.A3A|ADAM22_ENST00000398204.4_Silent_p.A3A			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	3					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A3A(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCATGCAGGCGGCAGTGGCTG	0.716																																																2	Substitution - coding silent(2)	ovary(2)	7											12	18	16					7																	87563789		2079	4189	6268	87401725	SO:0001819	synonymous_variant	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.9G>A	7.37:g.87563789G>A			87401725	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	CCDS47637.1																																																																																				0.716	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		A	87563789	G	A	87563789	2	1	109	1	0	0	0	0	0	0	0	1	244	1103	39	1		1	ADAM22	7	87563789	Silent	SNP	G	TCGA-13-0906-01A-01W-0419-10	36467928	87563789	71574874	38	5879											
PPP1R9A	55607	hgsc.bcm.edu	37	7	94740576	94740576	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr7:94740576C>G	ENST00000433881.1	+	3	1933	c.1401C>G	c.(1399-1401)ttC>ttG	p.F467L	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.F467L|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.F467L|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.F467L|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.F467L|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.F467L			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	467	Interacts with protein phosphatase 1. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.F467L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TACAGGTTTTCAACACATACT	0.373										HNSCC(28;0.073)																																						1	Substitution - Missense(1)	ovary(1)	7											74	75	75					7																	94740576		2203	4300	6503	94578512	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1401C>G	7.37:g.94740576C>G	ENSP00000398870:p.Phe467Leu		94578512	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925414	0.73213	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.18016	2.24;2.28;2.26;2.28;2.28;2.26	4.65	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	M	0.80847	2.515	0.58432	D	0.99999	D;D;D;D;D	0.89917	0.998;0.999;0.998;1.0;0.979	D;D;D;D;P	0.79784	0.935;0.984;0.98;0.993;0.759	T	0.36817	-0.9732	10	0.72032	D	0.01	.	10.8992	0.47040	0.0:0.8872:0.0:0.1128	.	467;467;467;467;467	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	L	467	ENSP00000405514:F467L;ENSP00000344524:F467L;ENSP00000411342:F467L;ENSP00000398870:F467L;ENSP00000289495:F467L;ENSP00000402893:F467L	ENSP00000289495:F467L	F	+	3	2	PPP1R9A	94578512	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.809000	0.27168	1.077000	0.40990	0.585000	0.79938	TTC		0.373	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		G	94740576	C	G	94740576	3	3	109	1	0	0	0	0	1	0	0	0	12381	825	29	3	1407	3	PPP1R9A	7	94740576	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	7176787	94740576	64398087	39	5880											
FBXO25	26260	hgsc.bcm.edu	37	8	418740	418740	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr8:418740C>A	ENST00000276326.5	+	11	1159	c.1040C>A	c.(1039-1041)gCc>gAc	p.A347D	FBXO25_ENST00000350302.3_Missense_Mutation_p.A338D|FBXO25_ENST00000382824.1_Missense_Mutation_p.A271D|FBXO25_ENST00000352684.2_Missense_Mutation_p.A271D	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	347					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.A347D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TGCACGGCGGCCGACCCTGAC	0.602																																																1	Substitution - Missense(1)	ovary(1)	8											56	54	55					8																	418740		2203	4300	6503	408740	SO:0001583	missense	26260			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"F-boxes /  "other""	13596	protein-coding gene	gene with protein product		609098	"F-box only protein 25"			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.1040C>A	8.37:g.418740C>A	ENSP00000276326:p.Ala347Asp		408740	Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	ENST00000276326.5	37	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	C	7.207	0.594580	0.13875	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T	0.17528	2.33;2.27	5.73	3.79	0.43588	.	0.461465	0.25944	N	0.027297	T	0.08358	0.0208	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.002	T	0.29243	-1.0018	10	0.17832	T	0.49	-14.8882	7.6524	0.28356	0.2822:0.5751:0.1427:0.0	.	271;338;347	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	D	338;271;347;310;271	ENSP00000342077:A338D;ENSP00000276326:A347D	ENSP00000276326:A347D	A	+	2	0	FBXO25	408740	0.885000	0.30320	0.029000	0.17559	0.672000	0.39443	2.790000	0.47821	2.702000	0.92279	0.467000	0.42956	GCC		0.602	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		A	418740	C	A	418740	3	1	109	1	0	0	0	0	1	0	0	0	5736	739	26	3	1078	3	FBXO25	8	418740	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10		418740	145945282	40	5881											
CYP11B2	1585	hgsc.bcm.edu	37	8	143996483	143996483	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr8:143996483delT	ENST00000323110.2	-	3	576	c.574delA	c.(574-576)atcfs	p.I192fs		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	192					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.I192fs*6(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TAGTGGAAGATGCTGGGCTGG	0.637									Familial Hyperaldosteronism type I																																							1	Deletion - Frameshift(1)	ovary(1)	8											47	44	45					8																	143996483		2203	4300	6503	143993485	SO:0001589	frameshift_variant	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.574delA	8.37:g.143996483delT	ENSP00000325822:p.Ile192fs		143993485	B0ZBE4|Q16726	Frame_Shift_Del	DEL	ENST00000323110.2	37	CCDS6393.1																																																																																				0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			-	143996483	T	-	143996483	7	5	109	1	0	1	0	1	0	0	0	0	4146	1464	51	0	965	0	CYP11B2	8	143996483	Frame_Shift_Del	DEL	T	TCGA-13-0906-01A-01W-0419-10	143577743	143996483	2367539	41	5882											
INVS	27130	hgsc.bcm.edu	37	9	103015295	103015295	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr9:103015295C>G	ENST00000262457.2	+	10	1526	c.1341C>G	c.(1339-1341)atC>atG	p.I447M	INVS_ENST00000541287.1_Missense_Mutation_p.I351M|INVS_ENST00000262456.2_Missense_Mutation_p.I447M	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	447					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.I447M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AAAATAAGATCAATCCAAATG	0.428																																																1	Substitution - Missense(1)	ovary(1)	9											100	100	100					9																	103015295		2203	4300	6503	102055116	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1341C>G	9.37:g.103015295C>G	ENSP00000262457:p.Ile447Met		102055116	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665292	0.47677	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.16196	2.36;2.36;2.36	5.84	4.94	0.65067	Ankyrin repeat-containing domain (4);	0.042797	0.85682	D	0.000000	T	0.27765	0.0683	L	0.37897	1.145	0.50632	D	0.999882	D;D;D	0.71674	0.996;0.998;0.994	D;D;D	0.78314	0.968;0.991;0.975	T	0.03306	-1.1050	10	0.62326	D	0.03	.	7.1994	0.25873	0.1383:0.722:0.0:0.1397	.	351;447;447	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	M	447;351;447	ENSP00000262457:I447M;ENSP00000444454:I351M;ENSP00000262456:I447M	ENSP00000262456:I447M	I	+	3	3	INVS	102055116	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	1.866000	0.39489	1.492000	0.48499	-0.122000	0.15005	ATC		0.428	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		G	103015295	C	G	103015295	3	3	109	1	0	0	0	0	1	0	0	0	7787	816	29	3	1375	3	INVS	9	103015295	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10		103015295	38198136	42	5883											
RAPGEF1	2889	hgsc.bcm.edu	37	9	134459790	134459790	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	C	T	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr9:134459790T>C	ENST00000372189.3	-	21	2887	c.2764A>G	c.(2764-2766)Aag>Gag	p.K922E	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.K940E|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.K939E	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	922	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.K940E(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTATTCAGCTTCCGCAAGTGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	9											35	40	39					9																	134459790		1996	4168	6164	133449611	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2764A>G	9.37:g.134459790T>C	ENSP00000361263:p.Lys922Glu		133449611	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289809	0.80914	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.28255	1.62;1.62;1.62	5.27	5.27	0.74061	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	N	0.11284	0.12	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.71184	0.969;0.972	T	0.40156	-0.9578	10	0.52906	T	0.07	.	14.6483	0.68777	0.0:0.0:0.0:1.0	.	922;940	Q13905;Q13905-3	RPGF1_HUMAN;.	E	922;939;868;922;940;902;900;939	ENSP00000361269:K939E;ENSP00000361263:K922E;ENSP00000361264:K940E	ENSP00000266110:K922E	K	-	1	0	RAPGEF1	133449611	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.650000	0.83521	2.110000	0.64415	0.454000	0.30748	AAG		0.647	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		C	134459790	T	C	134459790	3	2	109	1	0	0	0	0	1	0	0	0	13046	1792	62	4	485	4	RAPGEF1	9	134459790	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	31444495	134459790	6753641	43	5884											
ANK3	288	hgsc.bcm.edu	37	10	61847934	61847934	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr10:61847934G>C	ENST00000280772.2	-	29	3702	c.3511C>G	c.(3511-3513)Cta>Gta	p.L1171V	ANK3_ENST00000355288.2_Missense_Mutation_p.L305V|ANK3_ENST00000503366.1_Missense_Mutation_p.L1172V|ANK3_ENST00000373827.2_Missense_Mutation_p.L1165V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1171	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L1171V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTTTAGTTAGGGCACCCTCT	0.483																																																1	Substitution - Missense(1)	ovary(1)	10											107	109	108					10																	61847934		2203	4300	6503	61517940	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3511C>G	10.37:g.61847934G>C	ENSP00000280772:p.Leu1171Val		61517940	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964270	0.53507	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.73897	-0.24;-0.79;-0.79;-0.79	6.17	3.85	0.44370	.	0.000000	0.33110	N	0.005278	T	0.81833	0.4906	M	0.62088	1.915	0.80722	D	1	D;D;D;D;D;P;D	0.89917	0.978;0.998;0.999;1.0;0.997;0.854;0.997	D;D;D;D;D;P;D	0.87578	0.918;0.99;0.996;0.998;0.991;0.747;0.978	T	0.79907	-0.1605	10	0.54805	T	0.06	.	8.6014	0.33747	0.7507:0.0:0.2493:0.0	.	1172;305;704;1165;1171;406;305	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	V	1171;1165;305;305;1172;1151;406;806;806;304;704	ENSP00000280772:L1171V;ENSP00000362933:L1165V;ENSP00000347436:L305V;ENSP00000425236:L1172V	ENSP00000280772:L1171V	L	-	1	2	ANK3	61517940	0.973000	0.33851	0.996000	0.52242	0.998000	0.95712	1.730000	0.38125	0.567000	0.29293	0.655000	0.94253	CTA		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61847934	G	C	61847934	3	2	109	1	0	0	0	0	1	0	0	0	622	991	35	3	9995	3	ANK3	10	61847934	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10		61847934	73686813	44	5885											
CDK1	983	hgsc.bcm.edu	37	10	62539961	62539961	+	Splice_Site	SNP	G	G	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr10:62539961G>A	ENST00000395284.3	+	2	179		c.e2+1		CDK1_ENST00000316629.4_Splice_Site|CDK1_ENST00000519760.1_Splice_Site|CDK1_ENST00000373809.2_Splice_Site|CDK1_ENST00000448257.2_Splice_Site	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.?(1)		ovary(1)	1						ATTGGAGAAGGTGAGTGGTTT	0.279																																																1	Unknown(1)	ovary(1)	10											63	64	64					10																	62539961		2202	4299	6501	62209967	SO:0001630	splice_region_variant	983			BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"Cyclin-dependent kinases"	1722	protein-coding gene	gene with protein product		116940	"cell division cycle 2, G1 to S and G2 to M"	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.37+1G>A	10.37:g.62539961G>A			62209967	A8K7C4|C9J497|O60764	Splice_Site	SNP	ENST00000395284.3	37	CCDS44408.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153507	0.78114	.	.	ENSG00000170312	ENST00000519078;ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3119	0.94192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK1	62209967	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.550000	0.90675	2.882000	0.98803	0.655000	0.94253	.		0.279	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786	Intron	A	62539961	G	A	62539961	5	1	109	1	0	0	0	0	0	0	1	0	3124	1275	44	2	40	2	CDK1	10	62539961	Splice_Site	SNP	G	TCGA-13-0906-01A-01W-0419-10	692027	62539961	72994786	45	5886											
USP54	159195	hgsc.bcm.edu	37	10	75277306	75277306	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr10:75277306C>T	ENST00000339859.4	-	19	2978	c.2878G>A	c.(2878-2880)Gaa>Aaa	p.E960K	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.E810K|USP54_ENST00000422491.2_Missense_Mutation_p.E142K|USP54_ENST00000394811.2_Missense_Mutation_p.E48K|USP54_ENST00000408019.1_Missense_Mutation_p.E960K|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	960					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.E48K(1)|p.E960K(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TTGTCTACTTCAACCGAAGTC	0.498																																					Colon(195;880 2046 8854 25025 38456)											2	Substitution - Missense(2)	ovary(2)	10											99	86	90					10																	75277306		2203	4300	6503	74947312	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2878G>A	10.37:g.75277306C>T	ENSP00000345216:p.Glu960Lys		74947312	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986492	0.35036	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.27402	1.91;1.91;1.91;1.67;1.88	6.03	4.95	0.65309	.	.	.	.	.	T	0.33847	0.0877	L	0.54323	1.7	0.80722	D	1	P;P	0.46142	0.873;0.651	P;B	0.44811	0.461;0.058	T	0.04140	-1.0974	9	0.49607	T	0.09	-10.427	12.5304	0.56111	0.0:0.86:0.0:0.14	.	142;960	E7EW90;Q70EL1	.;UBP54_HUMAN	K	960;960;810;48;142	ENSP00000345216:E960K;ENSP00000386080:E960K;ENSP00000408714:E810K;ENSP00000378290:E48K;ENSP00000407368:E142K	ENSP00000345216:E960K	E	-	1	0	USP54	74947312	1.000000	0.71417	0.998000	0.56505	0.239000	0.25481	2.801000	0.47908	2.861000	0.98227	0.655000	0.94253	GAA		0.498	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		T	75277306	C	T	75277306	3	4	109	1	0	0	0	0	1	0	0	0	17085	835	29	2	2196	2	USP54	10	75277306	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	12737345	75277306	60257441	46	5887											
CHUK	1147	hgsc.bcm.edu	37	10	101978563	101978563	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr10:101978563T>G	ENST00000370397.7	-	8	795	c.709A>C	c.(709-711)Aag>Cag	p.K237Q		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.K237Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TTTGGATCCTTCTTCTTAATC	0.323																																					Ovarian(159;52 1904 10536 35305 37148)											1	Substitution - Missense(1)	ovary(1)	10											117	110	112					10																	101978563		2203	4300	6503	101968553	SO:0001583	missense	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.709A>C	10.37:g.101978563T>G	ENSP00000359424:p.Lys237Gln		101968553	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319368	0.81469	.	.	ENSG00000213341	ENST00000370397	T	0.65549	-0.16	5.92	5.92	0.95590	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	0.79364	0.4433	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81984	-0.0682	10	0.87932	D	0	-16.8521	14.3262	0.66523	0.0:0.0:0.0:1.0	.	237	O15111	IKKA_HUMAN	Q	237	ENSP00000359424:K237Q	ENSP00000359424:K237Q	K	-	1	0	CHUK	101968553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.661000	0.83786	2.263000	0.75096	0.533000	0.62120	AAG		0.323	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		G	101978563	T	G	101978563	3	3	109	1	0	0	0	0	1	0	0	0	3416	1792	62	5	1584	5	CHUK	10	101978563	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	26701257	101978563	33556184	47	5888											
B4GALNT4	338707	hgsc.bcm.edu	37	11	380167	380167	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr11:380167T>C	ENST00000329962.6	+	17	2680	c.2680T>C	c.(2680-2682)Tcc>Ccc	p.S894P		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	894					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.S894P(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCGAGCGCTCCGCCGGGCT	0.706																																																1	Substitution - Missense(1)	ovary(1)	11											17	22	20					11																	380167		2198	4298	6496	370167	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2680T>C	11.37:g.380167T>C	ENSP00000328277:p.Ser894Pro		370167	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.114259	0.77210	.	.	ENSG00000182272	ENST00000329962	T	0.37915	1.17	4.45	3.23	0.37069	.	0.139955	0.50627	D	0.000120	T	0.55893	0.1949	M	0.81802	2.56	0.46149	D	0.998897	D	0.58970	0.984	P	0.61533	0.89	T	0.62407	-0.6861	10	0.62326	D	0.03	-26.3008	11.5529	0.50731	0.0:0.0:0.1484:0.8516	.	894	Q76KP1	B4GN4_HUMAN	P	894	ENSP00000328277:S894P	ENSP00000328277:S894P	S	+	1	0	B4GALNT4	370167	1.000000	0.71417	0.989000	0.46669	0.782000	0.44232	5.743000	0.68655	1.769000	0.52152	0.459000	0.35465	TCC		0.706	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		C	380167	T	C	380167	3	2	109	1	0	0	0	0	1	0	0	0	1269	1551	54	4	2746	4	B4GALNT4	11	380167	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10		380167	134626349	48	5889											
MS4A3	932	hgsc.bcm.edu	37	11	59830067	59830067	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr11:59830067G>T	ENST00000278865.3	+	3	356	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000358152.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	95						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.G95C(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCCGATTTGGGGTGCTGTGTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											155	144	147					11																	59830067		2201	4295	6496	59586643	SO:0001583	missense	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.283G>T	11.37:g.59830067G>T	ENSP00000278865:p.Gly95Cys		59586643	A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863050	0.32884	.	.	ENSG00000149516	ENST00000278865	T	0.03441	3.93	4.59	3.68	0.42216	.	0.312769	0.35495	N	0.003170	T	0.21227	0.0511	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00920	-1.1514	10	0.66056	D	0.02	-3.2261	8.7143	0.34401	0.104:0.0:0.896:0.0	.	95	Q96HJ5	MS4A3_HUMAN	C	95	ENSP00000278865:G95C	ENSP00000278865:G95C	G	+	1	0	MS4A3	59586643	1.000000	0.71417	0.549000	0.28204	0.081000	0.17604	2.358000	0.44134	1.139000	0.42245	0.591000	0.81541	GGT		0.423	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			T	59830067	G	T	59830067	3	4	109	1	0	0	0	0	1	0	0	0	9861	1232	43	3	289	3	MS4A3	11	59830067	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	59449900	59830067	75176449	49	5890											
AHNAK	79026	hgsc.bcm.edu	37	11	62300598	62300598	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr11:62300598C>T	ENST00000378024.4	-	5	1565	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	431					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V431M(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGCACATTCAGTTTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	11											82	84	83					11																	62300598		2202	4299	6501	62057174	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1291G>A	11.37:g.62300598C>T	ENSP00000367263:p.Val431Met		62057174	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.956480	0.00465	.	.	ENSG00000124942	ENST00000378024	T	0.00625	6.14	5.65	-11.3	0.00108	.	0.910928	0.09119	N	0.845979	T	0.00178	0.0005	N	0.00224	-1.81	0.09310	N	1	B	0.24092	0.097	B	0.21917	0.037	T	0.49716	-0.8910	10	0.22706	T	0.39	-1.67	1.9372	0.03339	0.2644:0.3999:0.1784:0.1573	.	431	Q09666	AHNK_HUMAN	M	431	ENSP00000367263:V431M	ENSP00000367263:V431M	V	-	1	0	AHNAK	62057174	0.000000	0.05858	0.000000	0.03702	0.411000	0.31082	-1.541000	0.02198	-2.522000	0.00497	-0.156000	0.13503	GTG		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62300598	C	T	62300598	3	4	109	1	0	0	0	0	1	0	0	0	414	478	17	2	16501	2	AHNAK	11	62300598	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	2470531	62300598	72705918	50	5891											
PPP2R5B	5526	hgsc.bcm.edu	37	11	64699078	64699078	+	Silent	SNP	G	G	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr11:64699078G>A	ENST00000164133.2	+	10	1615	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	331					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.K331K(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GCACCCAGAAGGAGGTATGAA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	11											37	35	36					11																	64699078		2201	4297	6498	64455654	SO:0001819	synonymous_variant	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.993G>A	11.37:g.64699078G>A			64455654	Q13853	Silent	SNP	ENST00000164133.2	37	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	9.304	1.053736	0.19907	.	.	ENSG00000068971	ENST00000359279	.	.	.	4.53	2.65	0.31530	.	.	.	.	.	T	0.60741	0.2292	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59423	-0.7457	5	0.59425	D	0.04	-22.2375	6.6875	0.23154	0.2921:0.0:0.7079:0.0	.	.	.	.	R	357	.	ENSP00000352225:G357R	G	+	1	0	PPP2R5B	64455654	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.891000	0.28309	0.648000	0.30732	0.462000	0.41574	GGA		0.587	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		A	64699078	G	A	64699078	2	1	109	1	0	0	0	0	0	0	0	1	12396	991	35	2		2	PPP2R5B	11	64699078	Silent	SNP	G	TCGA-13-0906-01A-01W-0419-10	2398480	64699078	70307438	51	5892											
CCDC87	55231	hgsc.bcm.edu	37	11	66359437	66359438	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr11:66359437_66359438delCC	ENST00000333861.3	-	1	1116_1117	c.1049_1050delGG	c.(1048-1050)gggfs	p.G350fs	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	350					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.G350fs*5(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCACGATGAGCCCAGTCAGCTC	0.594																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								66116014	SO:0001589	frameshift_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1049_1050delGG	11.37:g.66359437_66359438delCC	ENSP00000328487:p.Gly350fs		66116013	Q8NE76	Frame_Shift_Del	DEL	ENST00000333861.3	37	CCDS8145.1																																																																																				0.594	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		-	66359438	CC	-	66359437	7	5	109	1	0	1	0	1	0	0	0	0	2862	726	26	0	1503	0	CCDC87	11	66359437	Frame_Shift_Del	DEL	CC	TCGA-13-0906-01A-01W-0419-10	1660359	66359437	68647079	52	5893											
CHD4	1108	hgsc.bcm.edu	37	12	6705263	6705263	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr12:6705263G>C	ENST00000357008.2	-	13	2096	c.1933C>G	c.(1933-1935)Cgg>Ggg	p.R645G	CHD4_ENST00000544040.1_Missense_Mutation_p.R638G|CHD4_ENST00000544484.1_Missense_Mutation_p.R642G|CHD4_ENST00000309577.6_Missense_Mutation_p.R645G	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	645	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R645G(1)		central_nervous_system(2)	2						GGTAAGTCCCGCCACTTGATC	0.512																																					Colon(32;586 792 4568 16848 45314)											1	Substitution - Missense(1)	ovary(1)	12											136	111	120					12																	6705263		2203	4300	6503	6575524	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1933C>G	12.37:g.6705263G>C	ENSP00000349508:p.Arg645Gly		6575524	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533316	0.64972	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	4.89	3.9	0.45041	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	M	0.82630	2.6	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.991;0.996	D;D;D	0.80764	0.994;0.932;0.992	D	0.88486	0.3072	10	0.87932	D	0	-4.1325	14.2823	0.66221	0.0:0.0:0.7964:0.2036	.	645;645;638	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	G	642;638;645;645;619	ENSP00000440392:R642G;ENSP00000440542:R638G;ENSP00000312419:R645G;ENSP00000349508:R645G	ENSP00000312419:R645G	R	-	1	2	CHD4	6575524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.745000	0.47459	2.243000	0.73865	0.655000	0.94253	CGG		0.512	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		C	6705263	G	C	6705263	3	2	109	1	0	0	0	0	1	0	0	0	3327	1086	38	3	3917	3	CHD4	12	6705263	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10		6705263	127146632	53	5894											
KIF5A	3798	hgsc.bcm.edu	37	12	57975255	57975255	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr12:57975255C>G	ENST00000455537.2	+	25	3087	c.2813C>G	c.(2812-2814)aCc>aGc	p.T938S	KIF5A_ENST00000286452.5_Missense_Mutation_p.T849S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	938	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.T938S(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCCTATGGCACCCGGAGCCCT	0.547																																																1	Substitution - Missense(1)	ovary(1)	12											99	95	96					12																	57975255		2203	4300	6503	56261522	SO:0001583	missense	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2813C>G	12.37:g.57975255C>G	ENSP00000408979:p.Thr938Ser		56261522	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905001	0.52333	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	T;T	0.74002	-0.8;-0.79	4.52	4.52	0.55395	.	0.371732	0.26800	N	0.022423	T	0.53594	0.1806	N	0.24115	0.695	0.32402	N	0.551848	B;B	0.16802	0.009;0.019	B;B	0.20184	0.004;0.028	T	0.51521	-0.8695	10	0.07325	T	0.83	.	6.9694	0.24640	0.0:0.8124:0.0:0.1876	.	849;938	B7Z2M7;Q12840	.;KIF5A_HUMAN	S	938;849;32	ENSP00000408979:T938S;ENSP00000286452:T849S	ENSP00000286452:T849S	T	+	2	0	KIF5A	56261522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.412000	0.44609	2.528000	0.85240	0.561000	0.74099	ACC		0.547	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		G	57975255	C	G	57975255	3	3	109	1	0	0	0	0	1	0	0	0	8305	507	18	3	2911	3	KIF5A	12	57975255	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	51269992	57975255	75876640	54	5895											
IRAK3	11213	hgsc.bcm.edu	37	12	66638320	66638320	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr12:66638320G>T	ENST00000261233.4	+	9	1363	c.942G>T	c.(940-942)atG>atT	p.M314I	IRAK3_ENST00000457197.2_Missense_Mutation_p.M253I	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.M314I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ATTTTGCCATGGCACACTTCC	0.413																																																1	Substitution - Missense(1)	ovary(1)	12											128	118	121					12																	66638320		2203	4300	6503	64924587	SO:0001583	missense	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.942G>T	12.37:g.66638320G>T	ENSP00000261233:p.Met314Ile		64924587		Missense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903657	0.33628	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.32515	1.45;1.45	5.64	3.77	0.43336	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.521480	0.21259	N	0.077507	T	0.13670	0.0331	N	0.05078	-0.115	0.29379	N	0.863442	B;B	0.18610	0.023;0.029	B;B	0.15870	0.008;0.014	T	0.16070	-1.0415	9	.	.	.	-9.3021	9.5106	0.39074	0.1708:0.0:0.8292:0.0	.	253;314	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	I	314;253	ENSP00000261233:M314I;ENSP00000409852:M253I	.	M	+	3	0	IRAK3	64924587	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	2.858000	0.48356	1.359000	0.45940	0.655000	0.94253	ATG		0.413	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			T	66638320	G	T	66638320	3	4	109	1	0	0	0	0	1	0	0	0	7824	1348	47	3	976	3	IRAK3	12	66638320	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	8663065	66638320	67213575	55	5896											
C12orf63	144535	hgsc.bcm.edu	37	12	97150244	97150244	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr12:97150244G>C	ENST00000524981.4	+	57	7872	c.7849G>C	c.(7849-7851)Gaa>Caa	p.E2617Q				Q96N23	CL055_HUMAN		0								p.E1042Q(1)									AGGCAAAATAGAACGTCAAAT	0.308																																																1	Substitution - Missense(1)	ovary(1)	12											51	55	54					12																	97150244		2202	4299	6501	95674375	SO:0001583	missense	374467																														ENST00000524981.4:c.7849G>C	12.37:g.97150244G>C	ENSP00000431759:p.Glu2617Gln		95674375		Missense_Mutation	SNP	ENST00000524981.4	37		.	.	.	.	.	.	.	.	.	.	G	14.26	2.483243	0.44147	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.55	5.55	0.83447	.	0.174400	0.40302	N	0.001121	T	0.67998	0.2953	L	0.41824	1.3	0.36009	D	0.837959	D	0.89917	1.0	D	0.87578	0.998	T	0.65784	-0.6084	9	0.20519	T	0.43	-22.2594	18.0566	0.89365	0.0:0.0:1.0:0.0	.	1042	Q6ZTY8	CL063_HUMAN	Q	2617;1042	.	ENSP00000345466:E1042Q	E	+	1	0	C12orf63	95674375	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.165000	0.58196	2.768000	0.95171	0.655000	0.94253	GAA		0.308	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			C	97150244	G	C	97150244	3	2	109	1	0	0	0	0	1	0	0	0	1706	943	33	3	3214	3	C12orf63	12	97150244	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	30511924	97150244	36701651	56	5897											
STAB2	55576	hgsc.bcm.edu	37	12	104152993	104152993	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr12:104152993T>G	ENST00000388887.2	+	65	7394	c.7190T>G	c.(7189-7191)cTg>cGg	p.L2397R	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.L2397R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCACCACCCTGCAAACGAGG	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											132	109	117					12																	104152993		2203	4300	6503	102677123	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7190T>G	12.37:g.104152993T>G	ENSP00000373539:p.Leu2397Arg		102677123		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935183	0.52866	.	.	ENSG00000136011	ENST00000388887	D	0.92249	-3.0	4.77	4.77	0.60923	FAS1 domain (4);	0.481250	0.19740	N	0.107144	D	0.95598	0.8569	M	0.84846	2.72	0.27385	N	0.955307	P	0.51147	0.942	P	0.60012	0.867	D	0.91148	0.4951	10	0.87932	D	0	.	13.4377	0.61094	0.0:0.0:0.0:1.0	.	2397	Q8WWQ8	STAB2_HUMAN	R	2397	ENSP00000373539:L2397R	ENSP00000373539:L2397R	L	+	2	0	STAB2	102677123	0.923000	0.31300	0.145000	0.22337	0.139000	0.21198	6.611000	0.74183	1.897000	0.54924	0.533000	0.62120	CTG		0.532	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			G	104152993	T	G	104152993	3	3	109	1	0	0	0	0	1	0	0	0	15240	1580	55	5	7448	5	STAB2	12	104152993	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	7002749	104152993	29698902	57	5898											
FRY	10129	hgsc.bcm.edu	37	13	32835792	32835792	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr13:32835792C>G	ENST00000380250.3	+	52	7952	c.7456C>G	c.(7456-7458)Cgt>Ggt	p.R2486G		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2486						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R2486G(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGTGCGCAGACGTTCTCTGGA	0.483																																																1	Substitution - Missense(1)	ovary(1)	13											89	93	92					13																	32835792		2006	4179	6185	31733792	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7456C>G	13.37:g.32835792C>G	ENSP00000369600:p.Arg2486Gly		31733792	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294793	0.95546	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.38560	1.13	5.68	5.68	0.88126	.	0.094876	0.85682	D	0.000000	T	0.65176	0.2666	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.63192	0.912;0.895	T	0.67352	-0.5692	10	0.72032	D	0.01	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	267;2486	Q8NB82;Q5TBA9	.;FRY_HUMAN	G	2486;130	ENSP00000369600:R2486G	ENSP00000369567:R130G	R	+	1	0	FRY	31733792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.081000	0.71309	2.702000	0.92279	0.655000	0.94253	CGT		0.483	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		G	32835792	C	G	32835792	3	3	109	1	0	0	0	0	1	0	0	0	6063	536	19	3	7662	3	FRY	13	32835792	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10		32835792	82334086	58	5899											
UGGT2	55757	hgsc.bcm.edu	37	13	96579327	96579327	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr13:96579327T>A	ENST00000376747.3	-	19	2225	c.2155A>T	c.(2155-2157)Aag>Tag	p.K719*		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	719					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.K719*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ACAGCACTCTTATCTTGTGAA	0.269																																																1	Substitution - Nonsense(1)	ovary(1)	13											50	51	50					13																	96579327		2197	4292	6489	95377328	SO:0001587	stop_gained	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2155A>T	13.37:g.96579327T>A	ENSP00000365938:p.Lys719*		95377328	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Nonsense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	37	6.196448	0.97367	.	.	ENSG00000102595	ENST00000376747	.	.	.	5.9	4.7	0.59300	.	0.091585	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-17.3908	13.2744	0.60180	0.0:0.0:0.1324:0.8676	.	.	.	.	X	719	.	ENSP00000365938:K719X	K	-	1	0	UGGT2	95377328	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.954000	0.76001	1.040000	0.40099	-0.323000	0.08544	AAG		0.269	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		A	96579327	T	A	96579327	4	1	109	1	0	0	0	0	0	1	0	0	16942	1763	61	5	2479	5	UGGT2	13	96579327	Nonsense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	63743535	96579327	18590551	59	5900											
RAB2B	84932	hgsc.bcm.edu	37	14	21931834	21931834	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr14:21931834G>C	ENST00000397762.1	-	6	555	c.455C>G	c.(454-456)aCa>aGa	p.T152R	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	152					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.T152R(1)		NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		ATTGCAGGCTGTTTTGGCTGA	0.433																																					Melanoma(131;1007 1750 28652 34486 42672)											1	Substitution - Missense(1)	ovary(1)	14											144	132	136					14																	21931834		2203	4300	6503	21001674	SO:0001583	missense	84932			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"RAB, member RAS oncogene"	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.455C>G	14.37:g.21931834G>C	ENSP00000380869:p.Thr152Arg		21001674	B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144434	0.77888	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	D	0.81821	-1.54	6.01	4.2	0.49525	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.89030	0.6599	M	0.85462	2.755	0.80722	D	1	P;D;D	0.62365	0.881;0.991;0.984	P;D;P	0.64687	0.771;0.928;0.829	D	0.89636	0.3859	10	0.72032	D	0.01	.	12.2026	0.54335	0.1237:0.0:0.8763:0.0	.	152;106;87	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	R	152	ENSP00000380869:T152R	ENSP00000302005:T152R	T	-	2	0	RAB2B	21001674	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.030000	0.70903	0.884000	0.36064	0.655000	0.94253	ACA		0.433	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			C	21931834	G	C	21931834	3	2	109	1	0	0	0	0	1	0	0	0	12921	1377	48	3	207	3	RAB2B	14	21931834	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10		21931834	85417706	60	5901											
LRP10	26020	hgsc.bcm.edu	37	14	23344860	23344860	+	Missense_Mutation	SNP	C	C	G	rs374479224		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr14:23344860C>G	ENST00000359591.4	+	5	1394	c.703C>G	c.(703-705)Cgc>Ggc	p.R235G	LRP10_ENST00000546834.1_Missense_Mutation_p.R235G	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	235	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R235G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCTGGCCGTGCGCTTCACAGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	14											73	69	71					14																	23344860		2203	4300	6503	22414700	SO:0001583	missense	26020			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.703C>G	14.37:g.23344860C>G	ENSP00000352601:p.Arg235Gly		22414700	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.84|13.84	2.357329|2.357329	0.41801|0.41801	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|T;T	.|0.18657	.|2.2;2.2	5.73|5.73	5.73|5.73	0.89815|0.89815	.|CUB (5);	.|0.238786	.|0.48286	.|D	.|0.000186	T|T	0.30572|0.30572	0.0769|0.0769	M|M	0.68317|0.68317	2.08|2.08	0.33096|0.33096	D|D	0.538591|0.538591	.|P	.|0.37038	.|0.579	.|B	.|0.38803	.|0.282	T|T	0.43507|0.43507	-0.9387|-0.9387	5|10	.|0.62326	.|D	.|0.03	-16.4179|-16.4179	18.6739|18.6739	0.91521|0.91521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|235	.|Q7Z4F1	.|LRP10_HUMAN	G|G	136|235	.|ENSP00000352601:R235G;ENSP00000447559:R235G	.|ENSP00000352601:R235G	A|R	+|+	2|1	0|0	LRP10|LRP10	22414700|22414700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.407000|3.407000	0.52644|0.52644	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			G	23344860	C	G	23344860	3	3	109	1	0	0	0	0	1	0	0	0	8952	768	27	3	721	3	LRP10	14	23344860	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	1413026	23344860	84004680	61	5902											
ADCY4	196883	hgsc.bcm.edu	37	14	24787968	24787968	+	Silent	SNP	G	G	T	rs370081321		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr14:24787968G>T	ENST00000310677.4	-	25	3086	c.2973C>A	c.(2971-2973)ccC>ccA	p.P991P	ADCY4_ENST00000554068.2_Silent_p.P991P|ADCY4_ENST00000418030.2_Silent_p.P991P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	991					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.P991P(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGCTACTACGGGTCCATGGT	0.532																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	14											93	91	92					14																	24787968		2203	4300	6503	23857808	SO:0001819	synonymous_variant	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2973C>A	14.37:g.24787968G>T			23857808	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1																																																																																				0.532	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			T	24787968	G	T	24787968	2	4	109	1	0	0	0	0	0	0	0	1	296	1103	39	3		3	ADCY4	14	24787968	Silent	SNP	G	TCGA-13-0906-01A-01W-0419-10	1443108	24787968	82561572	62	5903											
MEIS2	4212	hgsc.bcm.edu	37	15	37388540	37388540	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr15:37388540C>T	ENST00000561208.1	-	3	755	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	MEIS2_ENST00000382766.2_Missense_Mutation_p.V113I|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000424352.2_Missense_Mutation_p.V113I|MEIS2_ENST00000444725.1_Missense_Mutation_p.V113I|MEIS2_ENST00000397620.2_Missense_Mutation_p.V25I|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Missense_Mutation_p.V100I|MEIS2_ENST00000340545.5_Missense_Mutation_p.V100I|MEIS2_ENST00000397624.3_Missense_Mutation_p.V25I|MEIS2_ENST00000338564.5_Missense_Mutation_p.V113I|MEIS2_ENST00000559085.1_Missense_Mutation_p.V100I|MEIS2_ENST00000559561.1_Missense_Mutation_p.V113I			O14770	MEIS2_HUMAN	Meis homeobox 2	113	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.V113I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAGGAGCAGACGTCTCCGCCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	15											40	38	39					15																	37388540		2201	4297	6498	35175832	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.337G>A	15.37:g.37388540C>T	ENSP00000453793:p.Val113Ile		35175832	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778218	0.90195	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620	T;T;T;T;T;T;T;T	0.34275	1.54;1.37;1.37;1.54;1.54;1.54;1.43;1.54	5.64	3.73	0.42828	.	0.055231	0.64402	D	0.000001	T	0.59932	0.2230	M	0.83774	2.66	0.80722	D	1	P;D;D;D;D;P;P	0.89917	0.943;0.997;0.977;0.965;1.0;0.934;0.887	B;P;P;P;D;P;B	0.83275	0.435;0.895;0.488;0.767;0.996;0.582;0.435	T	0.60737	-0.7204	10	0.48119	T	0.1	-4.8259	10.8283	0.46647	0.1309:0.8011:0.0:0.068	.	100;113;113;113;113;25;100	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.	I	113;113;113;113;113;100;100;25	ENSP00000326296:V113I;ENSP00000341400:V113I;ENSP00000372216:V113I;ENSP00000404185:V113I;ENSP00000391887:V113I;ENSP00000339549:V100I;ENSP00000380749:V100I;ENSP00000380745:V25I	ENSP00000326296:V113I	V	-	1	0	MEIS2	35175832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.790000	0.85794	0.706000	0.31912	0.650000	0.86243	GTC		0.607	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		T	37388540	C	T	37388540	3	4	109	1	0	0	0	0	1	0	0	0	9468	536	19	1	1199	1	MEIS2	15	37388540	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10		37388540	65142852	63	5904											
MGA	23269	hgsc.bcm.edu	37	15	42058784	42058784	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr15:42058784A>C	ENST00000570161.1	+	23	8504	c.8504A>C	c.(8503-8505)cAa>cCa	p.Q2835P	MGA_ENST00000389936.4_Missense_Mutation_p.Q2796P|MGA_ENST00000545763.1_Missense_Mutation_p.Q2626P|MGA_ENST00000566586.1_Missense_Mutation_p.Q2626P|MGA_ENST00000219905.7_Missense_Mutation_p.Q2835P			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.Q2884P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCTTAATCAACAACTAAAT	0.453																																																1	Substitution - Missense(1)	ovary(1)	15											122	120	121					15																	42058784		2021	4191	6212	39846076	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8504A>C	15.37:g.42058784A>C	ENSP00000457035:p.Gln2835Pro		39846076	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266506	0.80358	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.90197	-2.58;-2.56;-2.63	5.49	5.49	0.81192	.	0.130592	0.34314	N	0.004071	D	0.92293	0.7555	L	0.29908	0.895	0.34826	D	0.739222	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.95394	0.8484	10	0.87932	D	0	.	15.7597	0.78070	1.0:0.0:0.0:0.0	.	2626;2835	F5H7K2;E7ENI0	.;.	P	2835;2796;2626	ENSP00000219905:Q2835P;ENSP00000374586:Q2796P;ENSP00000442467:Q2626P	ENSP00000219905:Q2835P	Q	+	2	0	MGA	39846076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.576000	0.74023	2.304000	0.77564	0.528000	0.53228	CAA		0.453	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		C	42058784	A	C	42058784	3	2	109	1	0	0	0	0	1	0	0	0	9540	130	5	5	8594	5	MGA	15	42058784	Missense_Mutation	SNP	A	TCGA-13-0906-01A-01W-0419-10	4670244	42058784	60472608	64	5905											
DUOX2	50506	hgsc.bcm.edu	37	15	45397933	45397933	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr15:45397933C>T	ENST00000603300.1	-	18	2444	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	DUOX2_ENST00000389039.6_Missense_Mutation_p.E748K	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	748					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.E748K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCGCTCATCTCAGCCACATGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	15											114	106	109					15																	45397933		2198	4298	6496	43185225	SO:0001583	missense	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2242G>A	15.37:g.45397933C>T	ENSP00000475084:p.Glu748Lys		43185225	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557062	0.65425	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.36	2.24	0.28232	.	0.275077	0.40222	N	0.001159	T	0.59824	0.2222	M	0.68593	2.085	0.51233	D	0.999912	P;P	0.41420	0.658;0.749	B;P	0.46543	0.24;0.52	T	0.61744	-0.7000	9	0.72032	D	0.01	-20.0981	9.66	0.39950	0.0:0.5148:0.4117:0.0735	.	748;310	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	K	748	.	ENSP00000373691:E748K	E	-	1	0	DUOX2	43185225	0.949000	0.32298	0.028000	0.17463	0.224000	0.24922	2.254000	0.43214	0.587000	0.29643	-0.165000	0.13383	GAG		0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		T	45397933	C	T	45397933	3	4	109	1	0	0	0	0	1	0	0	0	4801	835	29	2	2472	2	DUOX2	15	45397933	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	3339149	45397933	57133459	65	5906											
GRIN2A	2903	hgsc.bcm.edu	37	16	9857734	9857734	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr16:9857734T>A	ENST00000396573.2	-	14	3976	c.3667A>T	c.(3667-3669)Acc>Tcc	p.T1223S	GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1223S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1223S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T1066S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1223S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1223S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1223					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T1223S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGAATAGGTGGGCATGTTG	0.562																																																1	Substitution - Missense(1)	ovary(1)	16											208	205	206					16																	9857734		2197	4300	6497	9765235	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3667A>T	16.37:g.9857734T>A	ENSP00000379818:p.Thr1223Ser		9765235	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	8.723	0.914825	0.17907	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10477	2.89;2.87;2.88;2.89;2.89	5.32	5.32	0.75619	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.317034	0.38111	N	0.001819	T	0.06325	0.0163	N	0.08118	0	0.25125	N	0.990613	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.14023	0.006;0.01;0.008	T	0.34650	-0.9820	9	.	.	.	.	14.4725	0.67526	0.0:0.0:0.0:1.0	.	1066;1223;1223	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	S	1223;1223;1066;1223;1223	ENSP00000379818:T1223S;ENSP00000385872:T1223S;ENSP00000441572:T1066S;ENSP00000332549:T1223S;ENSP00000379820:T1223S	.	T	-	1	0	GRIN2A	9765235	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.903000	0.56318	2.005000	0.58758	0.533000	0.62120	ACC		0.562	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9857734	T	A	9857734	3	1	109	1	0	0	0	0	1	0	0	0	6779	1696	59	5	731	5	GRIN2A	16	9857734	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10		9857734	80497019	66	5907											
CLEC16A	23274	hgsc.bcm.edu	37	16	11065059	11065059	+	Silent	SNP	A	A	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr16:11065059A>G	ENST00000409790.1	+	5	800	c.570A>G	c.(568-570)gtA>gtG	p.V190V	CLEC16A_ENST00000409552.3_Silent_p.V190V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.V190V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAATTGCTGTAAGAACCATAA	0.428											OREG0023609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	16											121	113	116					16																	11065059		1940	4143	6083	10972560	SO:0001819	synonymous_variant	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.570A>G	16.37:g.11065059A>G		669	10972560		Silent	SNP	ENST00000409790.1	37	CCDS45409.1																																																																																				0.428	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		G	11065059	A	G	11065059	2	3	109	1	0	0	0	0	0	0	0	1	3500	349	13	4		4	CLEC16A	16	11065059	Silent	SNP	A	TCGA-13-0906-01A-01W-0419-10	1207325	11065059	79289694	67	5908											
KIAA0430	9665	hgsc.bcm.edu	37	16	15729640	15729640	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr16:15729640C>A	ENST00000396368.3	-	3	910	c.704G>T	c.(703-705)gGg>gTg	p.G235V	KIAA0430_ENST00000548025.1_Missense_Mutation_p.G235V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G57V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G235V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G235V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G235V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	235					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G235V(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCCAAATGCCCTGGAGCCCC	0.517																																																1	Substitution - Missense(1)	ovary(1)	16											65	67	67					16																	15729640		1959	4143	6102	15637141	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.704G>T	16.37:g.15729640C>A	ENSP00000379654:p.Gly235Val		15637141	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503931	0.64410	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.91	5.91	0.95273	.	0.079920	0.53938	D	0.000049	T	0.69663	0.3136	L	0.51422	1.61	0.45690	D	0.998601	D;D;D;D;D	0.89917	1.0;0.996;0.996;0.996;0.993	D;D;D;D;P	0.71656	0.974;0.944;0.944;0.944;0.881	T	0.70769	-0.4782	9	0.72032	D	0.01	.	13.4829	0.61348	0.0:0.9291:0.0:0.0708	.	234;234;235;234;234	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	V	235;235;234;57;235;235;235	.	ENSP00000315718:G234V	G	-	2	0	KIAA0430	15637141	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	2.341000	0.43983	2.793000	0.96121	0.655000	0.94253	GGG		0.517	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		A	15729640	C	A	15729640	3	1	109	1	0	0	0	0	1	0	0	0	8177	623	22	3	4627	3	KIAA0430	16	15729640	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	4664581	15729640	74625113	68	5909											
KIAA0430	9665	hgsc.bcm.edu	37	16	15730002	15730005	+	Frame_Shift_Del	DEL	CATT	CATT	-	rs376034508		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	CATT	CATT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr16:15730002_15730005delCATT	ENST00000396368.3	-	3	545_548	c.339_342delAATG	c.(337-342)ccaatgfs	p.PM113fs	KIAA0430_ENST00000548025.1_Frame_Shift_Del_p.PM113fs|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000602337.1_Frame_Shift_Del_p.PM113fs|KIAA0430_ENST00000551742.1_Frame_Shift_Del_p.PM113fs|KIAA0430_ENST00000540441.2_Frame_Shift_Del_p.PM113fs	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	113					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.M114fs*15(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACCAAAACGCATTGGCGAAGTGG	0.52																																																1	Deletion - Frameshift(1)	ovary(1)	16																																								15637506	SO:0001589	frameshift_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.339_342delAATG	16.37:g.15730002_15730005delCATT	ENSP00000379654:p.Pro113fs		15637503	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Del	DEL	ENST00000396368.3	37	CCDS10562.2																																																																																				0.52	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		-	15730005	CATT	-	15730002	7	5	109	1	0	1	0	1	0	0	0	0	8177	710	25	0	4989	0	KIAA0430	16	15730002	Frame_Shift_Del	DEL	CATT	TCGA-13-0906-01A-01W-0419-10	362	15730002	74624751	69	5910											
FANCA	2175	hgsc.bcm.edu	37	16	89815135	89815135	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr16:89815135T>C	ENST00000389301.3	-	33	3310	c.3280A>G	c.(3280-3282)Agc>Ggc	p.S1094G	FANCA_ENST00000568369.1_Missense_Mutation_p.S1094G	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1094					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S1094G(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCCTGGAAGCTGCTGCCGCAG	0.592			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	1	Substitution - Missense(1)	ovary(1)	16											89	63	72					16																	89815135		2198	4300	6498	88342636	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3280A>G	16.37:g.89815135T>C	ENSP00000373952:p.Ser1094Gly		88342636	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	T	6.555	0.470749	0.12461	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.84370	-1.84	0.235	0.235	0.15431	.	1.389500	0.04507	N	0.382292	T	0.75324	0.3834	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15473	0.008;0.013;0.005	B;B;B	0.11329	0.004;0.006;0.006	T	0.60786	-0.7194	9	0.45353	T	0.12	-2.1199	.	.	.	.	71;1094;1094	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	G	1094;71	ENSP00000373952:S1094G	ENSP00000306281:S71G	S	-	1	0	FANCA	88342636	0.000000	0.05858	0.002000	0.10522	0.341000	0.28922	-0.395000	0.07287	0.263000	0.21812	0.260000	0.18958	AGC		0.592	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			C	89815135	T	C	89815135	3	2	109	1	0	0	0	0	1	0	0	0	5662	1580	55	4	1131	4	FANCA	16	89815135	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	74085133	89815135	539618	70	5911											
ACADVL	37	hgsc.bcm.edu	37	17	7127691	7127692	+	In_Frame_Ins	INS	-	-	TCC			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr17:7127691_7127692insTCC	ENST00000356839.5	+	16	1763_1764	c.1584_1585insTCC	c.(1585-1587)ttg>TCCttg	p.528_529insS	ACADVL_ENST00000543245.2_In_Frame_Ins_p.551_552insS|ACADVL_ENST00000350303.5_In_Frame_Ins_p.506_507insS|MIR324_ENST00000362183.1_RNA	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	528					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.E528_L529insS(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TCCACCCGGAGTTGAGTCGGAG	0.644																																																1	Insertion - In frame(1)	ovary(1)	17																																								7068416	SO:0001652	inframe_insertion	37			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	Exception_encountered	17.37:g.7127691_7127692insTCC	ENSP00000349297:p.Glu528_Leu529insSer		7068415	B4DEB6|F5H2A9|O76056|Q8WUL0	In_Frame_Ins	INS	ENST00000356839.5	37	CCDS11090.1																																																																																				0.644	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		TCC	7127692	-	TCC	7127691	7	5	109	1	0	1	1	0	0	0	0	0	116	1020	36	0	1646	0	ACADVL	17	7127691	In_Frame_Ins	INS	-	TCGA-13-0906-01A-01W-0419-10		7127691	74067519	71	5912											
TP53	7157	hgsc.bcm.edu	37	17	7578530	7578530	+	Missense_Mutation	SNP	A	A	C	rs267605077		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr17:7578530A>C	ENST00000269305.4	-	5	589	c.400T>G	c.(400-402)Ttt>Gtt	p.F134V	TP53_ENST00000420246.2_Missense_Mutation_p.F134V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F134V|TP53_ENST00000413465.2_Missense_Mutation_p.F134V|TP53_ENST00000445888.2_Missense_Mutation_p.F134V|TP53_ENST00000359597.4_Missense_Mutation_p.F134V	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	134	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F134L(16)|p.F134V(12)|p.0?(8)|p.C135fs*35(5)|p.M133fs*36(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F2V(1)|p.F41V(1)|p.S127fs*36(1)|p.?(1)|p.Y126fs*11(1)|p.F134fs*39(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F41L(1)|p.F2L(1)|p.M133fs*13(1)|p.M40fs*36(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)	AGTTGGCAAAACATCTTGTTG	0.567		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"	60	Substitution - Missense(33)|Deletion - Frameshift(15)|Whole gene deletion(8)|Deletion - In frame(2)|Insertion - Frameshift(1)|Unknown(1)	breast(13)|haematopoietic_and_lymphoid_tissue(7)|ovary(6)|kidney(5)|large_intestine(4)|central_nervous_system(4)|lung(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|pancreas(2)|vulva(1)	17											48	49	49					17																	7578530		2203	4300	6503	7519255	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.400T>G	17.37:g.7578530A>C	ENSP00000269305:p.Phe134Val		7519255	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	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815196	0.90790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99841	-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.054280	0.64402	D	0.000001	D	0.99825	0.9922	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.998;0.965;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.989;0.996;0.99;0.91;0.999;0.999;0.996	D	0.96722	0.9533	10	0.87932	D	0	-24.5315	13.8301	0.63375	1.0:0.0:0.0:0.0	.	95;134;134;41;134;134;134	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	134;134;134;134;134;134;123;41;2;41;2;134	ENSP00000410739:F134V;ENSP00000352610:F134V;ENSP00000269305:F134V;ENSP00000398846:F134V;ENSP00000391127:F134V;ENSP00000391478:F134V;ENSP00000425104:F2V;ENSP00000423862:F41V;ENSP00000424104:F134V	ENSP00000269305:F134V	F	-	1	0	TP53	7519255	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	TTT		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578530	A	C	7578530	3	2	109	1	0	0	0	0	1	0	0	0	16381	43	2	5	898	5	TP53	17	7578530	Missense_Mutation	SNP	A	TCGA-13-0906-01A-01W-0419-10	450839	7578530	73616680	72	5913											
ALOXE3	59344	hgsc.bcm.edu	37	17	8021174	8021174	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr17:8021174G>T	ENST00000448843.2	-	2	475	c.135C>A	c.(133-135)ttC>ttA	p.F45L	ALOXE3_ENST00000380149.1_Missense_Mutation_p.F201L|ALOXE3_ENST00000318227.3_Missense_Mutation_p.F177L	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	45	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.F45L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						ATCCAGGGGCGAAGTCCCTGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	17											50	36	41					17																	8021174		2203	4300	6503	7961899	SO:0001583	missense	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.135C>A	17.37:g.8021174G>T	ENSP00000400581:p.Phe45Leu		7961899	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426493	0.83667	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.50813	0.73;0.73;0.73	4.8	1.62	0.23740	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.047852	0.85682	D	0.000000	T	0.64638	0.2616	M	0.80422	2.495	0.47009	D	0.999286	D;D;D	0.69078	0.99;0.997;0.997	D;D;D	0.72625	0.973;0.978;0.978	T	0.64153	-0.6474	10	0.54805	T	0.06	-25.3122	9.1359	0.36875	0.2533:0.0:0.7467:0.0	.	177;45;45	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	L	201;177;45	ENSP00000369494:F201L;ENSP00000314879:F177L;ENSP00000400581:F45L	ENSP00000314879:F177L	F	-	3	2	ALOXE3	7961899	0.002000	0.14202	0.944000	0.38274	0.953000	0.61014	-0.102000	0.10956	0.413000	0.25759	0.561000	0.74099	TTC		0.617	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			T	8021174	G	T	8021174	3	4	109	1	0	0	0	0	1	0	0	0	542	1049	37	3	2060	3	ALOXE3	17	8021174	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	442644	8021174	73174036	73	5914											
ITGA2B	3674	hgsc.bcm.edu	37	17	42453020	42453020	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr17:42453020C>A	ENST00000262407.5	-	26	2697	c.2666G>T	c.(2665-2667)cGc>cTc	p.R889L	ITGA2B_ENST00000353281.4_Missense_Mutation_p.R889L	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	889					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R889L(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GATCTGTCTGCGATCCCGCTT	0.677																																																1	Substitution - Missense(1)	ovary(1)	17											38	37	37					17																	42453020		2203	4300	6503	39808546	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2666G>T	17.37:g.42453020C>A	ENSP00000262407:p.Arg889Leu		39808546	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179658	0.57800	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.53857	0.6;0.6	3.66	3.66	0.41972	Integrin alpha-2 (1);	0.513347	0.13595	U	0.376332	T	0.72087	0.3417	M	0.85197	2.74	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.69479	0.927;0.964	T	0.72184	-0.4367	10	0.45353	T	0.12	.	11.1529	0.48469	0.0:1.0:0.0:0.0	.	487;889	Q59FA8;P08514	.;ITA2B_HUMAN	L	889	ENSP00000262407:R889L;ENSP00000340536:R889L	ENSP00000262407:R889L	R	-	2	0	ITGA2B	39808546	0.995000	0.38212	0.934000	0.37439	0.074000	0.17049	1.545000	0.36169	2.335000	0.79485	0.491000	0.48974	CGC		0.677	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			A	42453020	C	A	42453020	3	1	109	1	0	0	0	0	1	0	0	0	7876	768	27	3	473	3	ITGA2B	17	42453020	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	34431846	42453020	38742190	74	5915											
ACBD4	79777	hgsc.bcm.edu	37	17	43214805	43214808	+	Frame_Shift_Del	DEL	GGCA	GGCA	-			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	GGCA	GGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr17:43214805_43214808delGGCA	ENST00000376955.4	+	6	783_786	c.486_489delGGCA	c.(484-489)ccggcafs	p.PA162fs	ACBD4_ENST00000321854.8_Frame_Shift_Del_p.PA162fs|ACBD4_ENST00000398322.3_Frame_Shift_Del_p.PA162fs|ACBD4_ENST00000591859.1_Frame_Shift_Del_p.PA162fs|ACBD4_ENST00000431281.1_Frame_Shift_Del_p.PA162fs|ACBD4_ENST00000592162.1_Frame_Shift_Del_p.PA162fs|ACBD4_ENST00000586346.1_Frame_Shift_Del_p.PA162fs|ACBD4_ENST00000591136.1_3'UTR	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	162							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						CCAAGGAACCGGCACCCCCAAGCC	0.627																																																0			17																																								40570334	SO:0001589	frameshift_variant	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 4"				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.486_489delGGCA	17.37:g.43214805_43214808delGGCA	ENSP00000366154:p.Pro162fs		40570331	D3DX64|Q8IUT1|Q9H8Q4	Frame_Shift_Del	DEL	ENST00000376955.4	37	CCDS45711.1																																																																																				0.627	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		-	43214808	GGCA	-	43214805	7	5	109	1	0	1	0	1	0	0	0	0	124	1103	39	0	504	0	ACBD4	17	43214805	Frame_Shift_Del	DEL	GGCA	TCGA-13-0906-01A-01W-0419-10	761785	43214805	37980405	75	5916											
GGA3	23163	hgsc.bcm.edu	37	17	73235513	73235513	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr17:73235513T>A	ENST00000245541.6	-	14	1939	c.1723A>T	c.(1723-1725)Aag>Tag	p.K575*	GGA3_ENST00000351904.7_Nonsense_Mutation_p.K542*|GGA3_ENST00000538886.1_Nonsense_Mutation_p.K453*|GGA3_ENST00000582717.1_Nonsense_Mutation_p.K503*|GGA3_ENST00000582486.1_Nonsense_Mutation_p.K503*|GGA3_ENST00000578348.1_Nonsense_Mutation_p.K453*	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	575	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.K575*(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCAGGCCCCTTCGGGGGGCTG	0.682											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	ovary(1)	17											21	24	23					17																	73235513		2203	4299	6502	70747108	SO:0001587	stop_gained	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1723A>T	17.37:g.73235513T>A	ENSP00000245541:p.Lys575*	1143	70747108	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Nonsense_Mutation	SNP	ENST00000245541.6	37	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	T	38	7.260231	0.98171	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	.	.	.	5.32	3.09	0.35607	.	0.174936	0.46145	D	0.000320	.	.	.	.	.	.	0.21527	N	0.999655	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3062	7.0349	0.24987	0.0:0.0753:0.1489:0.7759	.	.	.	.	X	575;542;503;453	.	ENSP00000245541:K575X	K	-	1	0	GGA3	70747108	0.872000	0.30054	0.051000	0.19133	0.782000	0.44232	1.415000	0.34748	0.467000	0.27218	0.460000	0.39030	AAG		0.682	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		A	73235513	T	A	73235513	4	1	109	1	0	0	0	0	0	1	0	0	6354	1792	62	5	552	5	GGA3	17	73235513	Nonsense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	30020708	73235513	7959697	76	5917											
CCDC57	284001	hgsc.bcm.edu	37	17	80151998	80151998	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr17:80151998T>G	ENST00000389641.4	-	5	672	c.636A>C	c.(634-636)aaA>aaC	p.K212N	CCDC57_ENST00000392343.3_Missense_Mutation_p.K212N|CCDC57_ENST00000392347.1_Missense_Mutation_p.K212N			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	212								p.K212N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCTCCAGCTCTTTGTGCAGTA	0.493																																																1	Substitution - Missense(1)	ovary(1)	17											67	70	69					17																	80151998		1917	4128	6045	77745287	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.636A>C	17.37:g.80151998T>G	ENSP00000374292:p.Lys212Asn		77745287	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.	.	.	.	.	.	.	.	.	.	t	10.25	1.298272	0.23650	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.29142	2.77;2.77;1.58	4.69	-3.22	0.05125	.	0.270108	0.30791	N	0.008875	T	0.35828	0.0945	L	0.59436	1.845	0.80722	D	1	D;D	0.57571	0.979;0.98	P;P	0.57152	0.801;0.814	T	0.23476	-1.0187	10	0.72032	D	0.01	-14.5749	6.525	0.22297	0.0:0.4822:0.1632:0.3546	.	212;212	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	N	212	ENSP00000374292:K212N;ENSP00000376158:K212N;ENSP00000376154:K212N	ENSP00000374292:K212N	K	-	3	2	CCDC57	77745287	0.062000	0.20869	0.272000	0.24630	0.842000	0.47809	-1.292000	0.02772	-0.637000	0.05516	0.456000	0.33151	AAA		0.493	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		G	80151998	T	G	80151998	3	3	109	1	0	0	0	0	1	0	0	0	2827	1606	56	5	2163	5	CCDC57	17	80151998	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	6916485	80151998	1043212	77	5918											
C19orf6	91304	hgsc.bcm.edu	37	19	1011130	1011130	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr19:1011130delT	ENST00000356663.3	-	10	1403	c.1282delA	c.(1282-1284)agcfs	p.S428fs	TMEM259_ENST00000333175.5_Intron	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	428						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S428fs*15(1)									AGGGCCAGGCTGCTATACTGC	0.642																																																1	Deletion - Frameshift(1)	ovary(1)	19											42	39	40					19																	1011130		2196	4296	6492	962130	SO:0001589	frameshift_variant	91304			BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1282delA	19.37:g.1011130delT	ENSP00000349087:p.Ser428fs		962130	O60392|Q8NF79|Q96H30	Frame_Shift_Del	DEL	ENST00000356663.3	37	CCDS32862.1																																																																																				0.642	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		-	1011130	T	-	1011130	7	5	109	1	0	1	0	1	0	0	0	0	1941	1580	55	0	588	0	C19orf6	19	1011130	Frame_Shift_Del	DEL	T	TCGA-13-0906-01A-01W-0419-10		1011130	58117853	78	5919											
TYK2	7297	hgsc.bcm.edu	37	19	10476311	10476311	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr19:10476311A>T	ENST00000525621.1	-	7	1374	c.893T>A	c.(892-894)gTg>gAg	p.V298E	TYK2_ENST00000264818.6_Missense_Mutation_p.V298E|TYK2_ENST00000524462.1_Missense_Mutation_p.V113E|TYK2_ENST00000529370.1_Missense_Mutation_p.V298E	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	298	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.V298E(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGTAGGGGCCACCCCACTGTC	0.697																																																1	Substitution - Missense(1)	ovary(1)	19											33	40	38					19																	10476311		2203	4298	6501	10337311	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.893T>A	19.37:g.10476311A>T	ENSP00000431885:p.Val298Glu		10337311	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.705|7.705	0.693863|0.693863	0.15039|0.15039	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370|ENST00000525220	T;T;T;T|.	0.80566|.	-0.88;-0.86;-0.86;-1.39|.	4.43|4.43	-0.301|-0.301	0.12800|0.12800	FERM domain (1);|.	0.944567|.	0.08753|.	N|.	0.898770|.	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.01168|0.01168	-0.975|-0.975	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.30909|0.30909	-0.9962|-0.9962	10|5	0.02654|.	T|.	1|.	-5.1324|-5.1324	1.2252|1.2252	0.01932|0.01932	0.29:0.0877:0.2925:0.3298|0.29:0.0877:0.2925:0.3298	.|.	298;298|.	E9PPF2;P29597|.	.;TYK2_HUMAN|.	E|R	113;298;298;45;298|77	ENSP00000433203:V113E;ENSP00000431885:V298E;ENSP00000264818:V298E;ENSP00000432728:V298E|.	ENSP00000264818:V298E|.	V|W	-|-	2|1	0|0	TYK2|TYK2	10337311|10337311	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.009000|0.009000	0.06853|0.06853	-0.659000|-0.659000	0.05323|0.05323	-0.362000|-0.362000	0.08113|0.08113	-0.390000|-0.390000	0.06520|0.06520	GTG|TGG		0.697	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			T	10476311	A	T	10476311	3	4	109	1	0	0	0	0	1	0	0	0	16810	159	6	5	2746	5	TYK2	19	10476311	Missense_Mutation	SNP	A	TCGA-13-0906-01A-01W-0419-10	9465181	10476311	48652672	79	5920											
ZNF823	55552	hgsc.bcm.edu	37	19	11833208	11833208	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr19:11833208T>C	ENST00000341191.6	-	4	1294	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A	ZNF823_ENST00000545749.1_Missense_Mutation_p.T199A	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T381A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCTGTGTGTGTTATCATGTGA	0.428										HNSCC(68;0.2)																																						1	Substitution - Missense(1)	ovary(1)	19											101	107	105					19																	11833208		2203	4300	6503	11694208	SO:0001583	missense	55552			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1141A>G	19.37:g.11833208T>C	ENSP00000340683:p.Thr381Ala		11694208	A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	N	12.62	1.993484	0.35131	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.20332	2.08;2.08;2.08	0.632	0.632	0.17705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	L	0.33710	1.025	0.20563	N	0.999888	B	0.02656	0.0	B	0.04013	0.001	T	0.24835	-1.0149	9	0.52906	T	0.07	.	5.5571	0.17123	0.0:0.0:0.0:1.0	.	381	P16415	ZN823_HUMAN	A	199;381;337	ENSP00000440162:T199A;ENSP00000340683:T381A;ENSP00000410654:T337A	ENSP00000340683:T381A	T	-	1	0	ZNF823	11694208	0.000000	0.05858	0.004000	0.12327	0.954000	0.61252	0.383000	0.20651	0.519000	0.28406	0.248000	0.18094	ACA		0.428	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		C	11833208	T	C	11833208	3	2	109	1	0	0	0	0	1	0	0	0	18179	1725	60	4	695	4	ZNF823	19	11833208	Missense_Mutation	SNP	T	TCGA-13-0906-01A-01W-0419-10	1356897	11833208	47295775	80	5921											
PKN1	5585	hgsc.bcm.edu	37	19	14580799	14580799	+	Splice_Site	SNP	G	G	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr19:14580799G>T	ENST00000242783.6	+	18	2457	c.2292G>T	c.(2290-2292)gaG>gaT	p.E764D	PKN1_ENST00000342216.4_Splice_Site_p.E770D	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E764D(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGCAAGGAGGGTGAGGGGC	0.607																																					NSCLC(185;2539 2965 10733 52867)											1	Substitution - Missense(1)	ovary(1)	19											72	75	74					19																	14580799		2026	4179	6205	14441799	SO:0001630	splice_region_variant	5585			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2293+1G>T	19.37:g.14580799G>T			14441799	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132667	0.56828	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65732	-0.17;-0.17	4.06	0.717	0.18196	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	0.64402	U	0.000002	T	0.60392	0.2265	N	0.17764	0.52	0.35948	D	0.833699	D;D	0.69078	0.996;0.997	D;D	0.76071	0.978;0.987	T	0.65240	-0.6216	10	0.87932	D	0	-24.0166	7.581	0.27965	0.2953:0.0:0.7047:0.0	.	770;764	Q16512-2;Q16512	.;PKN1_HUMAN	D	764;770	ENSP00000242783:E764D;ENSP00000343325:E770D	ENSP00000242783:E764D	E	+	3	2	PKN1	14441799	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.161000	0.42358	0.142000	0.18901	-1.185000	0.01705	GAG		0.607	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560	Missense_Mutation	T	14580799	G	T	14580799	5	4	109	1	0	0	0	0	0	0	1	0	11979	1014	35	3	2405	3	PKN1	19	14580799	Splice_Site	SNP	G	TCGA-13-0906-01A-01W-0419-10	2747591	14580799	44548184	81	5922											
C19orf44	84167	hgsc.bcm.edu	37	19	16620461	16620463	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	AGC	AGC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr19:16620461_16620463delAGC	ENST00000221671.3	+	5	1457_1459	c.1301_1303delAGC	c.(1300-1305)gagcat>gat	p.434_435EH>D	C19orf44_ENST00000594035.1_In_Frame_Del_p.434_435EH>D|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	434								p.E434_H435>D(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAGGTCTCGGAGCATCTCAGTGC	0.635																																																1	Complex - deletion inframe(1)	ovary(1)	19																																								16481463	SO:0001651	inframe_deletion	84167			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1301_1303delAGC	19.37:g.16620461_16620463delAGC	ENSP00000221671:p.Glu434_His435delinsAsp		16481461	Q8N6Y7	In_Frame_Del	DEL	ENST00000221671.3	37	CCDS12345.1																																																																																				0.635	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		-	16620463	AGC	-	16620461	7	5	109	1	0	1	0	1	0	0	0	0	1927	304	11	0	1315	0	C19orf44	19	16620461	In_Frame_Del	DEL	AGC	TCGA-13-0906-01A-01W-0419-10	2039662	16620461	42508522	82	5923											
SLC7A10	56301	hgsc.bcm.edu	37	19	33702378	33702378	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr19:33702378A>G	ENST00000253188.4	-	6	1000	c.854T>C	c.(853-855)aTt>aCt	p.I285T		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	285					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.I285T(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAAGTAGGCAATGTTGGTGAA	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											167	111	130					19																	33702378		2203	4300	6503	38394218	SO:0001583	missense	56301			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.854T>C	19.37:g.33702378A>G	ENSP00000253188:p.Ile285Thr		38394218	B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	A	10.00	1.233355	0.22626	.	.	ENSG00000130876	ENST00000253188	D	0.91843	-2.92	5.51	4.5	0.54988	Amino acid permease domain (1);	0.211684	0.45867	D	0.000337	D	0.93426	0.7903	M	0.80746	2.51	0.80722	D	1	B	0.27656	0.184	B	0.41088	0.347	D	0.91793	0.5445	10	0.87932	D	0	.	10.5024	0.44813	0.9236:0.0:0.0764:0.0	.	285	Q9NS82	AAA1_HUMAN	T	285	ENSP00000253188:I285T	ENSP00000253188:I285T	I	-	2	0	SLC7A10	38394218	1.000000	0.71417	0.002000	0.10522	0.062000	0.15995	8.919000	0.92770	0.943000	0.37553	-0.326000	0.08463	ATT		0.627	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		G	33702378	A	G	33702378	3	3	109	1	0	0	0	0	1	0	0	0	14696	101	4	4	741	4	SLC7A10	19	33702378	Missense_Mutation	SNP	A	TCGA-13-0906-01A-01W-0419-10	17081917	33702378	25426605	83	5924											
ZNF546	339327	hgsc.bcm.edu	37	19	40513218	40513218	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr19:40513218C>G	ENST00000347077.4	+	5	425	c.209C>G	c.(208-210)tCc>tGc	p.S70C	ZNF546_ENST00000600094.1_Missense_Mutation_p.S44C|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.S70C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATAGACCTCTCCCAAGAGGAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	19											114	102	106					19																	40513218		2203	4300	6503	45205058	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.209C>G	19.37:g.40513218C>G	ENSP00000339823:p.Ser70Cys		45205058	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	10.66	1.413149	0.25465	.	.	ENSG00000187187	ENST00000347077	T	0.02944	4.1	2.53	1.41	0.22369	Krueppel-associated box (4);	.	.	.	.	T	0.10121	0.0248	H	0.96048	3.76	0.22240	N	0.999264	B;B	0.20459	0.045;0.045	B;B	0.24394	0.053;0.053	T	0.10154	-1.0642	9	0.87932	D	0	.	8.7563	0.34648	0.0:0.7639:0.2361:0.0	.	44;70	B3KVL3;Q86UE3	.;ZN546_HUMAN	C	70	ENSP00000339823:S70C	ENSP00000339823:S70C	S	+	2	0	ZNF546	45205058	0.141000	0.22595	0.489000	0.27452	0.968000	0.65278	1.850000	0.39328	0.341000	0.23771	0.551000	0.68910	TCC		0.428	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		G	40513218	C	G	40513218	3	3	109	1	0	0	0	0	1	0	0	0	17978	855	30	3	219	3	ZNF546	19	40513218	Missense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10	6810840	40513218	18615765	84	5925											
ZNF780B	163131	hgsc.bcm.edu	37	19	40541695	40541695	+	Silent	SNP	A	A	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr19:40541695A>C	ENST00000434248.1	-	5	1136	c.1071T>G	c.(1069-1071)ggT>ggG	p.G357G	ZNF780B_ENST00000221355.6_Silent_p.G209G	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	357					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.G357G(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGGGCTTCTCACCCATATGAA	0.423																																																1	Substitution - coding silent(1)	ovary(1)	19											65	70	69					19																	40541695		2202	4300	6502	45233535	SO:0001819	synonymous_variant	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1071T>G	19.37:g.40541695A>C			45233535	B9EH00	Silent	SNP	ENST00000434248.1	37	CCDS46077.1																																																																																				0.423	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		C	40541695	A	C	40541695	2	2	109	1	0	0	0	0	0	0	0	1	18153	146	6	5		5	ZNF780B	19	40541695	Silent	SNP	A	TCGA-13-0906-01A-01W-0419-10	28477	40541695	18587288	85	5926											
PLD3	23646	hgsc.bcm.edu	37	19	40883999	40883999	+	Silent	SNP	C	C	T			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr19:40883999C>T	ENST00000409587.1	+	13	1789	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	PLD3_ENST00000409419.1_Silent_p.F464F|PLD3_ENST00000409735.4_Silent_p.F464F|PLD3_ENST00000409281.1_Silent_p.F464F|PLD3_ENST00000356508.5_Silent_p.F464F			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	464					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)	p.F411F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			AGGCCATTTTCCTGAGGGACT	0.652																																																1	Substitution - coding silent(1)	ovary(1)	19											93	93	93					19																	40883999		2203	4300	6503	45575839	SO:0001819	synonymous_variant	23646			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1392C>T	19.37:g.40883999C>T			45575839	Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	CCDS33027.1																																																																																				0.652	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		T	40883999	C	T	40883999	2	4	109	1	0	0	0	0	0	0	0	1	12047	854	30	2		2	PLD3	19	40883999	Silent	SNP	C	TCGA-13-0906-01A-01W-0419-10	342304	40883999	18244984	86	5927											
PTPRT	11122	hgsc.bcm.edu	37	20	40790162	40790174	+	Frame_Shift_Del	DEL	GCTCCCCGCGGCT	GCTCCCCGCGGCT	-	rs376797195|rs200718535|rs373191879|rs368946816		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	GCTCCCCGCGGCT	GCTCCCCGCGGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr20:40790162_40790174delGCTCCCCGCGGCT	ENST00000373187.1	-	17	2499_2511	c.2500_2512delAGCCGCGGGGAGC	c.(2500-2514)agccgcggggagcttfs	p.SRGEL834fs	PTPRT_ENST00000373201.1_Frame_Shift_Del_p.SRGEL824fs|PTPRT_ENST00000373198.4_Frame_Shift_Del_p.SRGEL853fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.SRGEL837fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.SRGEL824fs|PTPRT_ENST00000356100.2_Frame_Shift_Del_p.SRGEL843fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.SRGEL833fs			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	834					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.S856fs*21(1)|p.R857R(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCTGGGAAAGCTCCCCGCGGCTGCCATCTGCT	0.606																																																2	Deletion - Frameshift(1)|Substitution - coding silent(1)	ovary(1)|prostate(1)	20																																								40223588	SO:0001589	frameshift_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2500_2512delAGCCGCGGGGAGC	20.37:g.40790162_40790174delGCTCCCCGCGGCT	ENSP00000362283:p.Ser834fs		40223576	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Frame_Shift_Del	DEL	ENST00000373187.1	37	CCDS42874.1																																																																																				0.606	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			-	40790174	GCTCCCCGCGGCT	-	40790162	7	5	109	1	0	1	0	1	0	0	0	0	12815	971	34	0	1873	0	PTPRT	20	40790162	Frame_Shift_Del	DEL	GCTCCCCGCGGCT	TCGA-13-0906-01A-01W-0419-10		40790162	22235358	87	5928											
ADAMTS5	11096	hgsc.bcm.edu	37	21	28305211	28305211	+	Silent	SNP	G	G	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr21:28305211G>A	ENST00000284987.5	-	5	1963	c.1842C>T	c.(1840-1842)cgC>cgT	p.R614R	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	614	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.		R -> H (in dbSNP:rs2830585). {ECO:0000269|PubMed:10464288}.		defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R614R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GACTGCAGGAGCGGTAGATGG	0.507																																					Esophageal Squamous(53;683 1080 10100 14424 45938)											1	Substitution - coding silent(1)	ovary(1)	21											151	105	120					21																	28305211		2203	4300	6503	27227082	SO:0001819	synonymous_variant	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1842C>T	21.37:g.28305211G>A			27227082	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	CCDS13579.1																																																																																				0.507	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			A	28305211	G	A	28305211	2	1	109	1	0	0	0	0	0	0	0	1	269	958	34	2		2	ADAMTS5	21	28305211	Silent	SNP	G	TCGA-13-0906-01A-01W-0419-10		28305211	19824684	88	5929											
MCM3AP	8888	hgsc.bcm.edu	37	21	47662804	47662805	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr21:47662804_47662805insGG	ENST00000397708.1	-	26	5591_5592	c.5337_5338insCC	c.(5335-5340)tttaaafs	p.K1780fs	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.K1780fs|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1780	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.K1780fs*5(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAATCGTTTTTAAAAAAATACA	0.436																																																1	Insertion - Frameshift(1)	ovary(1)	21																																								46487233	SO:0001589	frameshift_variant	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5337_5338insCC	21.37:g.47662804_47662805insGG	ENSP00000380820:p.Lys1780fs		46487232	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	CCDS13734.1																																																																																				0.436	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		GG	47662805	-	GG	47662804	7	5	109	1	0	1	1	0	0	0	0	0	9388	1763	61	0	620	0	MCM3AP	21	47662804	Frame_Shift_Ins	INS	-	TCGA-13-0906-01A-01W-0419-10	19357593	47662804	467091	89	5930											
SLC5A1	6523	hgsc.bcm.edu	37	22	32495226	32495226	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr22:32495226C>G	ENST00000266088.4	+	12	1587	c.1337C>G	c.(1336-1338)tCa>tGa	p.S446*	SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.S319*	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	446					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.S446*(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ATTGTGCAGTCAGCACAAAGT	0.483																																																1	Substitution - Nonsense(1)	ovary(1)	22											199	180	187					22																	32495226		2203	4300	6503	30825226	SO:0001587	stop_gained	6523				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1337C>G	22.37:g.32495226C>G	ENSP00000266088:p.Ser446*		30825226	B2R7E2|B7Z4Q9|B7ZA69	Nonsense_Mutation	SNP	ENST00000266088.4	37	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	39	7.871404	0.98537	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	.	.	.	5.29	5.29	0.74685	.	0.131977	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.9422	0.89028	0.0:1.0:0.0:0.0	.	.	.	.	X	446;319	.	ENSP00000266088:S446X	S	+	2	0	SLC5A1	30825226	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	3.792000	0.55476	2.474000	0.83562	0.557000	0.71058	TCA		0.483	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		G	32495226	C	G	32495226	4	3	109	1	0	0	0	0	0	1	0	0	14664	838	29	3	1383	3	SLC5A1	22	32495226	Nonsense_Mutation	SNP	C	TCGA-13-0906-01A-01W-0419-10		32495226	18809340	90	5931											
TOM1	10043	hgsc.bcm.edu	37	22	35730380	35730380	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr22:35730380G>A	ENST00000449058.2	+	11	1212	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	TOM1_ENST00000436462.2_Missense_Mutation_p.E325K|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000447733.1_Missense_Mutation_p.E330K|MIR3909_ENST00000579518.1_RNA|TOM1_ENST00000411850.1_Missense_Mutation_p.E363K|TOM1_ENST00000425375.1_Missense_Mutation_p.E318K	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	363					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)	p.E363K(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGGTCGACTGGAAGATGAGTT	0.607																																																1	Substitution - Missense(1)	ovary(1)	22											90	86	87					22																	35730380		2203	4300	6503	34060380	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.1087G>A	22.37:g.35730380G>A	ENSP00000394466:p.Glu363Lys		34060380	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602626	0.46423	.	.	ENSG00000100284	ENST00000447733;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000412456;ENST00000451197;ENST00000436462	T;T;T;T;T	0.22945	1.94;1.95;1.94;1.93;1.93	4.99	4.99	0.66335	.	0.055128	0.64402	D	0.000001	T	0.34716	0.0907	L	0.50333	1.59	0.80722	D	1	B;D;B;D;P	0.64830	0.42;0.994;0.017;0.99;0.848	B;P;B;P;B	0.55923	0.061;0.787;0.015;0.779;0.437	T	0.04386	-1.0955	10	0.12103	T	0.63	-18.0829	13.9594	0.64170	0.0:0.1519:0.8481:0.0	.	318;325;372;363;363	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	K	330;363;363;318;100;372;325	ENSP00000398876:E330K;ENSP00000394466:E363K;ENSP00000413697:E363K;ENSP00000394924:E318K;ENSP00000402556:E325K	ENSP00000413697:E363K	E	+	1	0	TOM1	34060380	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.580000	0.74040	2.306000	0.77630	0.561000	0.74099	GAA		0.607	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		A	35730380	G	A	35730380	3	1	109	1	0	0	0	0	1	0	0	0	16351	1175	41	2	1129	2	TOM1	22	35730380	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	3235154	35730380	15574186	91	5932											
ELFN2	114794	hgsc.bcm.edu	37	22	37770642	37770642	+	Silent	SNP	C	C	A			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr22:37770642C>A	ENST00000402918.2	-	3	1718	c.933G>T	c.(931-933)ctG>ctT	p.L311L	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	311	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.L311L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGATGACCACCAGGGTGGCCG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	22											305	272	284					22																	37770642		2203	4300	6503	36100588	SO:0001819	synonymous_variant	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.933G>T	22.37:g.37770642C>A			36100588	Q96PY3	Silent	SNP	ENST00000402918.2	37	CCDS33642.1																																																																																				0.587	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		A	37770642	C	A	37770642	2	1	109	1	0	0	0	0	0	0	0	1	5058	581	21	3		3	ELFN2	22	37770642	Silent	SNP	C	TCGA-13-0906-01A-01W-0419-10	2040262	37770642	13533924	92	5933											
LDOC1L	84247	hgsc.bcm.edu	37	22	44892879	44892879	+	Frame_Shift_Del	DEL	G	G	-	rs111640081		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr22:44892879delG	ENST00000341255.3	-	2	1067	c.558delC	c.(556-558)cgcfs	p.R186fs		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	186								p.A187fs*>53(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TGATTTGGGCGCGCCGCGCAT	0.632																																																1	Deletion - Frameshift(1)	ovary(1)	22																																								43271543	SO:0001589	frameshift_variant	84247			CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.558delC	22.37:g.44892879delG	ENSP00000340434:p.Arg186fs		43271543	Q6ZTR1	Frame_Shift_Del	DEL	ENST00000341255.3	37	CCDS33662.1																																																																																				0.632	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		-	44892879	G	-	44892879	7	5	109	1	0	1	0	1	0	0	0	0	8710	1074	38	0	165	0	LDOC1L	22	44892879	Frame_Shift_Del	DEL	G	TCGA-13-0906-01A-01W-0419-10	7122237	44892879	6411687	93	5934											
PLXNB2	23654	hgsc.bcm.edu	37	22	50721158	50721158	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chr22:50721158G>C	ENST00000449103.1	-	18	3109	c.2969C>G	c.(2968-2970)cCg>cGg	p.P990R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P990R|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	990	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.P1033R(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTTCGTAGCGGCTCGAAGGC	0.657																																																1	Substitution - Missense(1)	ovary(1)	22											15	22	20					22																	50721158		1975	4135	6110	49063285	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2969C>G	22.37:g.50721158G>C	ENSP00000409171:p.Pro990Arg		49063285	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854010	0.51270	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000427829	D;D	0.89270	-2.49;-2.49	3.66	3.66	0.41972	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000082	D	0.93549	0.7941	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93866	0.7158	10	0.59425	D	0.04	.	12.8931	0.58082	0.0:0.0:1.0:0.0	.	990	O15031	PLXB2_HUMAN	R	990;990;51	ENSP00000409171:P990R;ENSP00000352288:P990R	ENSP00000352288:P990R	P	-	2	0	PLXNB2	49063285	1.000000	0.71417	0.513000	0.27749	0.186000	0.23388	4.090000	0.57693	1.898000	0.54952	0.313000	0.20887	CCG		0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		C	50721158	G	C	50721158	3	2	109	1	0	0	0	0	1	0	0	0	12124	1116	39	3	2627	3	PLXNB2	22	50721158	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10	5828279	50721158	583408	94	5935											
CACNA1F	778	hgsc.bcm.edu	37	X	49084785	49084785	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chrX:49084785G>C	ENST00000376265.2	-	7	1003	c.942C>G	c.(940-942)gaC>gaG	p.D314E	CACNA1F_ENST00000376251.1_Missense_Mutation_p.D249E|CACNA1F_ENST00000323022.5_Missense_Mutation_p.D314E	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	314					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D314E(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGAAGAAGTTGTCAAAGTTGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	X											81	67	72					X																	49084785		2203	4300	6503	48971729	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.942C>G	X.37:g.49084785G>C	ENSP00000365441:p.Asp314Glu		48971729	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944626	0.53079	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97430	-4.38;-4.38;-4.38	5.08	4.21	0.49690	Ion transport (1);	0.095587	0.64402	D	0.000001	D	0.98273	0.9428	M	0.88031	2.925	0.37529	D	0.91785	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99659	1.0993	10	0.87932	D	0	.	8.3255	0.32153	0.1896:0.0:0.8104:0.0	.	314;314	F5CIQ9;O60840	.;CAC1F_HUMAN	E	249;314;314	ENSP00000365427:D249E;ENSP00000321618:D314E;ENSP00000365441:D314E	ENSP00000321618:D314E	D	-	3	2	CACNA1F	48971729	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	1.131000	0.31406	0.939000	0.37446	0.436000	0.28706	GAC		0.607	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		C	49084785	G	C	49084785	3	2	109	1	0	0	0	0	1	0	0	0	2543	1368	48	3	5159	3	CACNA1F	23	49084785	Missense_Mutation	SNP	G	TCGA-13-0906-01A-01W-0419-10		49084785	106185775	95	5936											
AVPR2	554	hgsc.bcm.edu	37	X	153171454	153171463	+	Frame_Shift_Del	DEL	CCTTCTCGCT	CCTTCTCGCT	-	rs367681688		TCGA-13-0906-01A-01W-0419-10	TCGA-13-0906-10A-01W-0419-10	CCTTCTCGCT	CCTTCTCGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ef5c41db-f01d-4a64-8929-dbc15bd3a69f	cea04517-0560-4bde-94e9-ecac1d0de51a	g.chrX:153171454_153171463delCCTTCTCGCT	ENST00000358927.2	+	3	703_712	c.494_503delCCTTCTCGCT	c.(493-504)gccttctcgctcfs	p.AFSL165fs	AVPR2_ENST00000370049.1_Frame_Shift_Del_p.AFSL165fs|AVPR2_ENST00000337474.5_Frame_Shift_Del_p.AFSL165fs			P30518	V2R_HUMAN	arginine vasopressin receptor 2	165					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.A165A(2)|p.L168fs*41(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	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)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GTGGCTTGGGCCTTCTCGCTCCTTCTCAGC	0.671																																																3	Substitution - coding silent(2)|Deletion - Frameshift(1)	lung(2)|ovary(1)	X	GRCh37	CM001627|CM014890|CM025909|CM940157|CM940158	AVPR2	M																																				152824657	SO:0001589	frameshift_variant	554			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.494_503delCCTTCTCGCT	X.37:g.153171454_153171463delCCTTCTCGCT	ENSP00000351805:p.Ala165fs		152824648	C5HF20|O43192|Q3MJD3|Q9UCV9	Frame_Shift_Del	DEL	ENST00000358927.2	37	CCDS14735.1																																																																																				0.671	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			-	153171463	CCTTCTCGCT	-	153171454	7	5	109	1	0	1	0	1	0	0	0	0	1233	739	26	0	500	0	AVPR2	23	153171454	Frame_Shift_Del	DEL	CCTTCTCGCT	TCGA-13-0906-01A-01W-0419-10	104086669	153171454	2099106	96	5937											
B4GALT2	8704	genome.wustl.edu	37	1	44450970	44450970	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr1:44450970T>G	ENST00000356836.6	+	5	1551	c.761T>G	c.(760-762)tTt>tGt	p.F254C	B4GALT2_ENST00000309519.7_Missense_Mutation_p.F283C|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.F254C|B4GALT2_ENST00000434555.2_Missense_Mutation_p.F188C	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	254					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.F254C(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GCTGGCTACTTTGGAGGTGTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											99	93	95					1																	44450970		2203	4300	6503	44223557	SO:0001583	missense	8704			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.761T>G	1.37:g.44450970T>G	ENSP00000349293:p.Phe254Cys		44223557	B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	CCDS506.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.453011	0.84209	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.46	5.46	0.80206	.	0.112119	0.64402	D	0.000009	D	0.93281	0.7859	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	D	0.94943	0.8093	10	0.87932	D	0	-1.5595	15.5368	0.76011	0.0:0.0:0.0:1.0	.	283;188;254	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	C	254;188;254;283	ENSP00000361399:F254C;ENSP00000407468:F188C;ENSP00000349293:F254C;ENSP00000310696:F283C	ENSP00000310696:F283C	F	+	2	0	B4GALT2	44223557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.026000	0.88783	2.076000	0.62316	0.338000	0.21704	TTT		0.567	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		G	44450970	T	G	44450970	3	3	110	1	0	0	0	0	1	0	0	0	1271	1841	64	5	775	5	B4GALT2	1	44450970	Missense_Mutation	SNP	T	TCGA-13-0910-01A-01W-0421-09		44450970	204799651	1	5938											
PYHIN1	149628	genome.wustl.edu	37	1	158914826	158914826	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr1:158914826C>G	ENST00000368140.1	+	7	1598	c.1353C>G	c.(1351-1353)ttC>ttG	p.F451L	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.F442L|PYHIN1_ENST00000392254.2_Missense_Mutation_p.F451L|PYHIN1_ENST00000368138.3_Missense_Mutation_p.F442L	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	451					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.F451L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCAGTTCCTTCACCAAGGTAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											134	135	135					1																	158914826		2203	4300	6503	157181450	SO:0001583	missense	149628			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1353C>G	1.37:g.158914826C>G	ENSP00000357122:p.Phe451Leu		157181450	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	5.888	0.347894	0.11126	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.03860	3.78;3.82;3.85;3.84	1.88	-2.69	0.06022	.	.	.	.	.	T	0.01061	0.0035	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.46775	-0.9167	9	0.66056	D	0.02	.	4.1377	0.10179	0.29:0.5144:0.0:0.1956	.	442;451;442;451	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	L	451;442;451;442	ENSP00000357122:F451L;ENSP00000357120:F442L;ENSP00000376083:F451L;ENSP00000376082:F442L	ENSP00000357120:F442L	F	+	3	2	PYHIN1	157181450	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	-0.741000	0.04855	-0.752000	0.04728	-0.459000	0.05422	TTC		0.443	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		G	158914826	C	G	158914826	3	3	110	1	0	0	0	0	1	0	0	0	12868	825	29	3	1375	3	PYHIN1	1	158914826	Missense_Mutation	SNP	C	TCGA-13-0910-01A-01W-0421-09	114463856	158914826	90335795	2	5939											
LTBP1	4052	genome.wustl.edu	37	2	33477825	33477825	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr2:33477825C>T	ENST00000404816.2	+	11	2434	c.2081C>T	c.(2080-2082)tCt>tTt	p.S694F	LTBP1_ENST00000404525.1_Missense_Mutation_p.S368F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S694F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S368F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S368F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S368F|LTBP1_ENST00000418533.2_Missense_Mutation_p.S368F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	694	TB 2.			S -> P (in Ref. 8; BP291349). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.S694F(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCCTCTGTCTGTTCACCTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	2											159	152	154					2																	33477825		2203	4300	6503	33331329	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2081C>T	2.37:g.33477825C>T	ENSP00000386043:p.Ser694Phe		33331329	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634305	0.87660	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	D;D;D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	5.48	5.48	0.80851	Matrix fibril-associated (3);TGF-beta binding (1);	.	.	.	.	D	0.96309	0.8796	M	0.67397	2.05	0.80722	D	1	D;D;P;D;D;D	0.76494	0.999;0.992;0.917;0.992;0.983;0.998	D;D;P;D;P;D	0.73380	0.98;0.939;0.789;0.917;0.898;0.942	D	0.96477	0.9353	9	0.72032	D	0.01	.	19.3625	0.94446	0.0:1.0:0.0:0.0	.	694;368;368;368;368;694	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	694;694;368;368;368;368;368;50;11	ENSP00000386043:S694F;ENSP00000346467:S694F;ENSP00000374653:S368F;ENSP00000393057:S368F;ENSP00000384373:S368F;ENSP00000385359:S368F;ENSP00000384091:S368F;ENSP00000415412:S50F;ENSP00000417591:S11F	ENSP00000346467:S694F	S	+	2	0	LTBP1	33331329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.194000	0.77789	2.567000	0.86603	0.655000	0.94253	TCT		0.542	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		T	33477825	C	T	33477825	3	4	110	1	0	0	0	0	1	0	0	0	9073	913	32	2	2178	2	LTBP1	2	33477825	Missense_Mutation	SNP	C	TCGA-13-0910-01A-01W-0421-09		33477825	209721548	3	5940											
ADRA2B	151	genome.wustl.edu	37	2	96781288	96781288	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr2:96781288G>A	ENST00000409345.3	-	1	696	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	201					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.R201C(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGTTGCTGCGTTTGGCGATC	0.617																																																1	Substitution - Missense(1)	ovary(1)	2											38	43	41					2																	96781288		2125	4247	6372	96145015	SO:0001583	missense	151			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.601C>T	2.37:g.96781288G>A	ENSP00000387281:p.Arg201Cys		96145015	Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871043	0.72065	.	.	ENSG00000222040	ENST00000409345	T	0.44482	0.92	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.76528	0.4000	H	0.97365	3.99	0.58432	D	0.999998	D	0.89917	1.0	D	0.75020	0.985	D	0.85095	0.0954	9	0.87932	D	0	.	16.0404	0.80679	0.0:0.0:1.0:0.0	.	201	P18089	ADA2B_HUMAN	C	201	ENSP00000387281:R201C	ENSP00000387281:R201C	R	-	1	0	ADRA2B	96145015	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.506000	0.45433	2.651000	0.90000	0.456000	0.33151	CGC		0.617	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			A	96781288	G	A	96781288	3	1	110	1	0	0	0	0	1	0	0	0	338	1145	40	1	746	1	ADRA2B	2	96781288	Missense_Mutation	SNP	G	TCGA-13-0910-01A-01W-0421-09	63303463	96781288	146418085	4	5941											
MED12L	116931	genome.wustl.edu	37	3	151105723	151105723	+	Silent	SNP	C	C	T			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr3:151105723C>T	ENST00000474524.1	+	35	5147	c.5109C>T	c.(5107-5109)taC>taT	p.Y1703Y	MED12L_ENST00000273432.4_Silent_p.Y1563Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1703						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Y1703Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATCAAGTACGAGGAGCAGC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	3											126	101	109					3																	151105723		2203	4300	6503	152588413	SO:0001819	synonymous_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5109C>T	3.37:g.151105723C>T			152588413	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1																																																																																				0.592	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		T	151105723	C	T	151105723	2	4	110	1	0	0	0	0	0	0	0	1	9429	547	19	1		1	MED12L	3	151105723	Silent	SNP	C	TCGA-13-0910-01A-01W-0421-09		151105723	46916707	5	5942											
BCHE	590	genome.wustl.edu	37	3	165547427	165547427	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr3:165547427C>A	ENST00000264381.3	-	2	1561	c.1395G>T	c.(1393-1395)atG>atT	p.M465I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	465					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.M465I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CATAGCCATGCATCACTCCCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											96	99	98					3																	165547427		2203	4300	6503	167030121	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1395G>T	3.37:g.165547427C>A	ENSP00000264381:p.Met465Ile		167030121	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268300	0.23136	.	.	ENSG00000114200	ENST00000264381	D	0.95137	-3.62	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.038402	0.85682	D	0.000000	D	0.90848	0.7125	L	0.28776	0.89	0.80722	D	1	B	0.17852	0.024	B	0.26969	0.075	D	0.86535	0.1824	10	0.15066	T	0.55	.	18.4281	0.90615	0.0:1.0:0.0:0.0	.	465	P06276	CHLE_HUMAN	I	465	ENSP00000264381:M465I	ENSP00000264381:M465I	M	-	3	0	BCHE	167030121	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	0.285000	0.18883	2.605000	0.88082	0.591000	0.81541	ATG		0.398	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			A	165547427	C	A	165547427	3	1	110	1	0	0	0	0	1	0	0	0	1358	710	25	3	425	3	BCHE	3	165547427	Missense_Mutation	SNP	C	TCGA-13-0910-01A-01W-0421-09	14441704	165547427	32475003	6	5943											
LRRC33	375387	genome.wustl.edu	37	3	196387496	196387496	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr3:196387496G>A	ENST00000328557.4	+	3	1185	c.982G>A	c.(982-984)Gca>Aca	p.A328T		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	328					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A328T(1)									CAGCGACCTCGCAGATCTCCG	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											99	98	99					3																	196387496		2203	4300	6503	197871893	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.982G>A	3.37:g.196387496G>A	ENSP00000328625:p.Ala328Thr		197871893		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393264	0.42410	.	.	ENSG00000174004	ENST00000328557	T	0.00816	5.66	6.08	-2.69	0.06022	.	0.452097	0.25711	N	0.028813	T	0.00580	0.0019	N	0.05414	-0.055	0.80722	D	1	B	0.16802	0.019	B	0.16722	0.016	T	0.58148	-0.7687	10	0.18710	T	0.47	.	12.1608	0.54103	0.0:0.0623:0.5746:0.363	.	328	Q86YC3	LRC33_HUMAN	T	328	ENSP00000328625:A328T	ENSP00000328625:A328T	A	+	1	0	LRRC33	197871893	0.991000	0.36638	0.005000	0.12908	0.920000	0.55202	0.936000	0.28938	-0.686000	0.05170	-0.266000	0.10368	GCA		0.597	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		A	196387496	G	A	196387496	3	1	110	1	0	0	0	0	1	0	0	0	8988	1087	38	1	988	1	LRRC33	3	196387496	Missense_Mutation	SNP	G	TCGA-13-0910-01A-01W-0421-09	30840069	196387496	1634934	7	5944											
PRDM9	56979	genome.wustl.edu	37	5	23527156	23527156	+	Silent	SNP	T	T	C	rs565855433		TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr5:23527156T>C	ENST00000296682.3	+	11	2141	c.1959T>C	c.(1957-1959)acT>acC	p.T653T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	653					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.T653T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCCTCACTCACCAGAGGA	0.602										HNSCC(3;0.000094)			T|||	1	0.000199681	8e-04	0	5008	,	,		19417	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	5											14	14	14					5																	23527156		1309	2992	4301	23562913	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1959T>C	5.37:g.23527156T>C			23562913	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				0.602	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		C	23527156	T	C	23527156	2	2	110	1	0	0	0	0	0	0	0	1	12466	1538	54	4		4	PRDM9	5	23527156	Silent	SNP	T	TCGA-13-0910-01A-01W-0421-09		23527156	157388104	8	5945											
GPR98	84059	genome.wustl.edu	37	5	89925304	89925304	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr5:89925304T>A	ENST00000405460.2	+	9	1883	c.1787T>A	c.(1786-1788)tTa>tAa	p.L596*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	596					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L596*(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACtacaaaattaccaataaga	0.353																																																1	Substitution - Nonsense(1)	ovary(1)	5											67	66	66					5																	89925304		1836	4087	5923	89961060	SO:0001587	stop_gained	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1787T>A	5.37:g.89925304T>A	ENSP00000384582:p.Leu596*		89961060	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	40	8.446037	0.98815	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	.	.	.	5.52	5.52	0.82312	.	0.156544	0.44483	D	0.000450	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6442	0.77036	0.0:0.0:0.0:1.0	.	.	.	.	X	596	.	ENSP00000296619:L596X	L	+	2	0	GPR98	89961060	1.000000	0.71417	0.375000	0.26029	0.998000	0.95712	7.463000	0.80869	2.104000	0.64026	0.533000	0.62120	TTA		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89925304	T	A	89925304	4	1	110	1	0	0	0	0	0	1	0	0	6721	1764	61	5	1821	5	GPR98	5	89925304	Nonsense_Mutation	SNP	T	TCGA-13-0910-01A-01W-0421-09	66398148	89925304	90989956	9	5946											
RARS	5917	genome.wustl.edu	37	5	167929075	167929075	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr5:167929075G>C	ENST00000231572.3	+	9	1076	c.1022G>C	c.(1021-1023)aGg>aCg	p.R341T	RARS_ENST00000538719.1_Missense_Mutation_p.R135T	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	341				R -> G (in Ref. 4; BAD96517). {ECO:0000305}.	arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.R341T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TATCAAGATAGGATGAATGAT	0.313																																																1	Substitution - Missense(1)	ovary(1)	5											103	112	109					5																	167929075		2203	4296	6499	167861653	SO:0001583	missense	5917			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1022G>C	5.37:g.167929075G>C	ENSP00000231572:p.Arg341Thr		167861653	B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337477	0.24253	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.64803	-0.12;-0.12	5.14	3.35	0.38373	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.189492	0.52532	D	0.000066	T	0.56352	0.1979	L	0.53729	1.69	0.41055	D	0.985334	B	0.14012	0.009	B	0.16722	0.016	T	0.51260	-0.8728	10	0.26408	T	0.33	-1.0907	14.1517	0.65389	0.0:0.0:0.5442:0.4558	.	341	P54136	SYRC_HUMAN	T	341;135	ENSP00000231572:R341T;ENSP00000439108:R135T	ENSP00000231572:R341T	R	+	2	0	RARS	167861653	0.993000	0.37304	1.000000	0.80357	0.986000	0.74619	0.385000	0.20685	0.665000	0.31066	-0.127000	0.14921	AGG		0.313	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		C	167929075	G	C	167929075	3	2	110	1	0	0	0	0	1	0	0	0	13061	1000	35	3	1056	3	RARS	5	167929075	Missense_Mutation	SNP	G	TCGA-13-0910-01A-01W-0421-09	78003771	167929075	12986185	10	5947											
C6orf81	221481	genome.wustl.edu	37	6	35715084	35715084	+	Missense_Mutation	SNP	C	C	T	rs372805979		TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr6:35715084C>T	ENST00000373866.3	+	4	513	c.491C>T	c.(490-492)aCg>aTg	p.T164M	ARMC12_ENST00000288065.2_Missense_Mutation_p.T191M|ARMC12_ENST00000373869.3_Missense_Mutation_p.T164M			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	164						nucleus (GO:0005634)		p.T191M(2)									ATCTGGGACACGGAACTGCAC	0.537																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	6						C	MET/THR	0,4406		0,0,2203	158	147	151		572	2.5	0.4	6		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	C6orf81	NM_145028.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	191/368	35715084	1,13005	2203	4300	6503	35823062	SO:0001583	missense	221481			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"Armadillo repeat containing"	21099	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 81"	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.491C>T	6.37:g.35715084C>T	ENSP00000362973:p.Thr164Met		35823062	Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37		.	.	.	.	.	.	.	.	.	.	C	9.974	1.226347	0.22542	0.0	1.16E-4	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.30714	1.52;1.52;1.52	4.3	2.46	0.29980	.	0.949125	0.08657	N	0.912980	T	0.04724	0.0128	N	0.03608	-0.345	0.09310	N	1	B;B	0.19445	0.005;0.036	B;B	0.11329	0.004;0.006	T	0.41142	-0.9525	10	0.49607	T	0.09	-4.933	7.1355	0.25525	0.0:0.7781:0.0:0.2219	.	164;191	Q5T9G4-3;Q5T9G4-2	.;.	M	164;191;164	ENSP00000362976:T164M;ENSP00000288065:T191M;ENSP00000362973:T164M	ENSP00000288065:T191M	T	+	2	0	C6orf81	35823062	0.100000	0.21855	0.394000	0.26270	0.794000	0.44872	0.757000	0.26433	0.254000	0.21573	0.462000	0.41574	ACG		0.537	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		T	35715084	C	T	35715084	3	4	110	1	0	0	0	0	1	0	0	0	2372	536	19	1	586	1	C6orf81	6	35715084	Missense_Mutation	SNP	C	TCGA-13-0910-01A-01W-0421-09		35715084	135399983	11	5948											
HCRTR2	3062	genome.wustl.edu	37	6	55120033	55120033	+	Missense_Mutation	SNP	C	C	T	rs141639071		TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr6:55120033C>T	ENST00000370862.3	+	3	838	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	168					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACAGCAAAGCGGGCCCGTAA	0.517													C|||	1	0.000199681	0	0.0014	5008	,	,		15556	0		0	False		,,,				2504	0															2	Substitution - Missense(2)	urinary_tract(1)|ovary(1)	6											175	146	155					6																	55120033		2203	4300	6503	55227992	SO:0001583	missense	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.502C>T	6.37:g.55120033C>T	ENSP00000359899:p.Arg168Trp		55227992	Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	CCDS4956.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.87	3.242027	0.58995	.	.	ENSG00000137252	ENST00000370862	T	0.41065	1.01	5.05	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76236	-0.3033	10	0.66056	D	0.02	.	15.097	0.72242	0.636:0.364:0.0:0.0	.	168;168	Q548Y0;O43614	.;OX2R_HUMAN	W	168	ENSP00000359899:R168W	ENSP00000359899:R168W	R	+	1	2	HCRTR2	55227992	0.459000	0.25768	0.942000	0.38095	0.918000	0.54935	-0.172000	0.09868	-0.108000	0.12066	-0.466000	0.05196	CGG		0.517	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			T	55120033	C	T	55120033	3	4	110	1	0	0	0	0	1	0	0	0	7002	759	27	1	512	1	HCRTR2	6	55120033	Missense_Mutation	SNP	C	TCGA-13-0910-01A-01W-0421-09	19404949	55120033	115995034	12	5949											
KLHL32	114792	genome.wustl.edu	37	6	97533046	97533046	+	Silent	SNP	C	C	T			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr6:97533046C>T	ENST00000369261.4	+	6	819	c.456C>T	c.(454-456)gaC>gaT	p.D152D	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.D83D|KLHL32_ENST00000536676.1_Silent_p.D116D	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	152								p.D152D(2)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GACTTGCTGACCTCTTTAACC	0.383																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	6											122	120	121					6																	97533046		2203	4300	6503	97639767	SO:0001819	synonymous_variant	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.456C>T	6.37:g.97533046C>T			97639767	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	CCDS5038.1																																																																																				0.383	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		T	97533046	C	T	97533046	2	4	110	1	0	0	0	0	0	0	0	1	8386	506	18	2		2	KLHL32	6	97533046	Silent	SNP	C	TCGA-13-0910-01A-01W-0421-09	42413013	97533046	73582021	13	5950											
ASCC3	10973	genome.wustl.edu	37	6	101054904	101054904	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr6:101054904T>C	ENST00000369162.2	-	31	5190	c.4846A>G	c.(4846-4848)Ata>Gta	p.I1616V		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1616	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.I1616V(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGCATTCCTATCCCGAAAGCA	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											103	93	97					6																	101054904		2202	4300	6502	101161625	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4846A>G	6.37:g.101054904T>C	ENSP00000358159:p.Ile1616Val		101161625	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793379	0.70452	.	.	ENSG00000112249	ENST00000369162	T	0.73575	-0.76	5.67	5.67	0.87782	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	N	0.20881	0.62	0.80722	D	1	D	0.58970	0.984	P	0.61477	0.889	T	0.65335	-0.6193	10	0.17369	T	0.5	.	15.9118	0.79477	0.0:0.0:0.0:1.0	.	1616	Q8N3C0	HELC1_HUMAN	V	1616	ENSP00000358159:I1616V	ENSP00000358159:I1616V	I	-	1	0	ASCC3	101161625	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	7.900000	0.87376	2.162000	0.67917	0.477000	0.44152	ATA		0.393	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		C	101054904	T	C	101054904	3	2	110	1	0	0	0	0	1	0	0	0	1033	1435	50	4	1810	4	ASCC3	6	101054904	Missense_Mutation	SNP	T	TCGA-13-0910-01A-01W-0421-09	3521858	101054904	70060163	14	5951											
PRSS55	203074	genome.wustl.edu	37	8	10387120	10387120	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr8:10387120G>T	ENST00000328655.3	+	2	298	c.258G>T	c.(256-258)caG>caT	p.Q86H	PRSS55_ENST00000522210.1_Missense_Mutation_p.Q86H|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	86	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.Q86H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGAGTATTCAGGCAAGAAGTG	0.517																																																1	Substitution - Missense(1)	ovary(1)	8											259	251	254					8																	10387120		2203	4300	6503	10424530	SO:0001583	missense	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.258G>T	8.37:g.10387120G>T	ENSP00000333003:p.Gln86His		10424530	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	8.495	0.862864	0.17178	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.89617	-2.54;-2.54	4.19	3.31	0.37934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.31177	N	0.008113	D	0.88771	0.6527	L	0.41573	1.285	0.35271	D	0.780466	D	0.89917	1.0	D	0.97110	1.0	D	0.86061	0.1532	10	0.09084	T	0.74	.	8.4266	0.32733	0.1066:0.0:0.8934:0.0	.	86	Q6UWB4	PRS55_HUMAN	H	86	ENSP00000333003:Q86H;ENSP00000430459:Q86H	ENSP00000333003:Q86H	Q	+	3	2	PRSS55	10424530	0.990000	0.36364	0.899000	0.35326	0.597000	0.36814	2.002000	0.40835	1.339000	0.45563	0.561000	0.74099	CAG		0.517	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		T	10387120	G	T	10387120	3	4	110	1	0	0	0	0	1	0	0	0	12637	991	35	3	264	3	PRSS55	8	10387120	Missense_Mutation	SNP	G	TCGA-13-0910-01A-01W-0421-09		10387120	135976902	15	5952											
SFMBT2	57713	genome.wustl.edu	37	10	7205761	7205761	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr10:7205761C>A	ENST00000361972.4	-	21	2746	c.2656G>T	c.(2656-2658)Gtg>Ttg	p.V886L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.V886L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	886	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.V886L(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TAGAAAGCCACTTTGACTCTC	0.557																																																1	Substitution - Missense(1)	ovary(1)	10											108	90	96					10																	7205761		2203	4300	6503	7245767	SO:0001583	missense	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2656G>T	10.37:g.7205761C>A	ENSP00000355109:p.Val886Leu		7245767	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064222	0.55432	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.20463	2.07;2.07	5.61	5.61	0.85477	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.12182	0.205	0.80722	D	1	B	0.17465	0.022	B	0.12156	0.007	T	0.12604	-1.0541	10	0.09338	T	0.73	.	15.9421	0.79763	0.0:0.8651:0.1349:0.0	.	886	Q5VUG0	SMBT2_HUMAN	L	886	ENSP00000355109:V886L;ENSP00000380353:V886L	ENSP00000355109:V886L	V	-	1	0	SFMBT2	7245767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.985000	0.49362	2.636000	0.89361	0.655000	0.94253	GTG		0.557	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		A	7205761	C	A	7205761	3	1	110	1	0	0	0	0	1	0	0	0	14161	565	20	3	32	3	SFMBT2	10	7205761	Missense_Mutation	SNP	C	TCGA-13-0910-01A-01W-0421-09		7205761	128328986	16	5953											
DMBT1	1755	genome.wustl.edu	37	10	124390771	124390771	+	Missense_Mutation	SNP	G	G	A	rs146475455	byFrequency	TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr10:124390771G>A	ENST00000338354.3	+	46	6039	c.5933G>A	c.(5932-5934)cGt>cAt	p.R1978H	DMBT1_ENST00000330163.4_Missense_Mutation_p.R1350H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1968H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1968H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R698H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1978H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1350H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1978	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.R2107H(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)				TGTAATCATCGTGAAGATGCT	0.542													G|||	2	0.000399361	0	0	5008	,	,		20952	0		0.002	False		,,,				2504	0				Ovarian(182;93 2026 18125 22222 38972)											1	Substitution - Missense(1)	ovary(1)	10						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4106		0,0,2053	144	139	140		4049,5933,5903	-5.4	0	10	dbSNP_134	140	1,8399		0,1,4199	yes	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	29,29,29	0,1,6252	AA,AG,GG		0.0119,0.0,0.0080	benign,benign,benign	1350/1786,1978/2414,1968/2404	124390771	1,12505	2053	4200	6253	124380761	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.5933G>A	10.37:g.124390771G>A	ENSP00000342210:p.Arg1978His		124380761	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	0.014	-1.579240	0.00879	0.0	1.19E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.56	-5.44	0.02624	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.31167	0.0788	N	0.10972	0.075	0.09310	N	1	B;P;B;B;B;B;D	0.69078	0.002;0.5;0.0;0.102;0.381;0.276;0.997	B;B;B;B;B;B;D	0.64877	0.003;0.074;0.0;0.057;0.024;0.082;0.93	T	0.15983	-1.0418	9	0.33940	T	0.23	.	2.9284	0.05792	0.3306:0.2826:0.2949:0.0919	.	698;1958;1227;2107;1350;1968;1978	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	1978;2107;1978;1978;1978;1978;1350;1968;1350;1350;1978;1968;1350;124;698	ENSP00000342210:R1978H;ENSP00000343175:R1968H;ENSP00000327747:R1350H;ENSP00000357905:R1978H;ENSP00000357951:R1968H;ENSP00000357952:R1350H;ENSP00000352593:R698H	ENSP00000331522:R1350H	R	+	2	0	DMBT1	124380761	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.486000	0.00455	-0.993000	0.03467	-1.197000	0.01672	CGT		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		A	124390771	G	A	124390771	3	1	110	1	0	0	0	0	1	0	0	0	4577	1145	40	1	6115	1	DMBT1	10	124390771	Missense_Mutation	SNP	G	TCGA-13-0910-01A-01W-0421-09	117185010	124390771	11143976	17	5954											
PTPRO	5800	genome.wustl.edu	37	12	15654589	15654589	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr12:15654589G>A	ENST00000281171.4	+	5	1027	c.697G>A	c.(697-699)Gta>Ata	p.V233I	PTPRO_ENST00000543886.1_Missense_Mutation_p.V233I|PTPRO_ENST00000348962.2_Missense_Mutation_p.V233I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	233					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.V233I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTTCGTATCGTAAACTTGAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											52	53	53					12																	15654589		2203	4300	6503	15545856	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.697G>A	12.37:g.15654589G>A	ENSP00000281171:p.Val233Ile		15545856	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029460	0.19512	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04049	3.72;3.73	4.6	0.678	0.17969	.	0.377447	0.18908	N	0.127860	T	0.02047	0.0064	N	0.03608	-0.345	0.53005	D	0.999968	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.50311	-0.8843	10	0.45353	T	0.12	.	5.4273	0.16433	0.3631:0.0:0.5124:0.1245	.	233;233;233	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	I	233	ENSP00000281171:V233I;ENSP00000343434:V233I	ENSP00000281171:V233I	V	+	1	0	PTPRO	15545856	0.924000	0.31332	0.940000	0.37924	0.972000	0.66771	0.456000	0.21859	0.206000	0.20587	0.585000	0.79938	GTA		0.338	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			A	15654589	G	A	15654589	3	1	110	1	0	0	0	0	1	0	0	0	12812	1145	40	1	715	1	PTPRO	12	15654589	Missense_Mutation	SNP	G	TCGA-13-0910-01A-01W-0421-09		15654589	118197306	18	5955											
ARNTL2	56938	genome.wustl.edu	37	12	27553514	27553514	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr12:27553514T>C	ENST00000266503.5	+	10	985	c.967T>C	c.(967-969)Tgg>Cgg	p.W323R	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Missense_Mutation_p.W286R|ARNTL2_ENST00000395901.2_Missense_Mutation_p.W286R|ARNTL2_ENST00000311001.5_Missense_Mutation_p.W309R|ARNTL2_ENST00000542388.1_Missense_Mutation_p.W238R|ARNTL2_ENST00000544915.1_Missense_Mutation_p.W289R|ARNTL2_ENST00000261178.5_Missense_Mutation_p.W275R			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	323					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.W323R(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTTGAGAAGCTGGCCTCCAAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											75	78	77					12																	27553514		2203	4300	6503	27444781	SO:0001583	missense	56938			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.967T>C	12.37:g.27553514T>C	ENSP00000266503:p.Trp323Arg		27444781	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646774	0.67358	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	T;T;T;T;T;T;T	0.08546	3.2;3.21;3.08;3.18;3.21;3.19;3.22	3.87	3.87	0.44632	.	0.070043	0.64402	D	0.000007	T	0.34308	0.0893	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.994;0.997;0.992;0.992;0.992;0.992	T	0.41998	-0.9477	10	0.87932	D	0	.	13.1695	0.59589	0.0:0.0:0.0:1.0	.	286;289;286;275;309;323	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	R	289;286;286;309;275;323;238	ENSP00000442438:W289R;ENSP00000379238:W286R;ENSP00000438545:W286R;ENSP00000312247:W309R;ENSP00000261178:W275R;ENSP00000266503:W323R;ENSP00000445836:W238R	ENSP00000261178:W275R	W	+	1	0	ARNTL2	27444781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.851000	0.75425	1.758000	0.51981	0.533000	0.62120	TGG		0.338	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		C	27553514	T	C	27553514	3	2	110	1	0	0	0	0	1	0	0	0	968	1580	55	4	1005	4	ARNTL2	12	27553514	Missense_Mutation	SNP	T	TCGA-13-0910-01A-01W-0421-09	11898925	27553514	106298381	19	5956											
ADAMTS20	80070	genome.wustl.edu	37	12	43821202	43821202	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr12:43821202G>C	ENST00000389420.3	-	27	4015	c.4016C>G	c.(4015-4017)gCt>gGt	p.A1339G	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1339G|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A457G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1339	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1339G(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGTAACTAGCACTTTGTCC	0.483																																																1	Substitution - Missense(1)	ovary(1)	12											121	90	100					12																	43821202		2203	4300	6503	42107469	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4016C>G	12.37:g.43821202G>C	ENSP00000374071:p.Ala1339Gly		42107469	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551430	0.45487	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.94	4.94	0.65067	.	0.119378	0.37012	N	0.002294	T	0.54711	0.1875	L	0.33485	1.01	0.36986	D	0.894551	P;P	0.42296	0.755;0.775	P;P	0.52066	0.689;0.593	T	0.59632	-0.7418	10	0.42905	T	0.14	.	14.6439	0.68745	0.0:0.1458:0.8542:0.0	.	1339;457	P59510;E9PBD5	ATS20_HUMAN;.	G	1339;469;457;1339;1339	ENSP00000374071:A1339G;ENSP00000447427:A469G;ENSP00000378911:A457G;ENSP00000448341:A1339G	ENSP00000374068:A1339G	A	-	2	0	ADAMTS20	42107469	1.000000	0.71417	0.748000	0.31131	0.629000	0.37895	4.064000	0.57506	2.670000	0.90874	0.650000	0.86243	GCT		0.483	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		C	43821202	G	C	43821202	3	2	110	1	0	0	0	0	1	0	0	0	266	971	34	3	1767	3	ADAMTS20	12	43821202	Missense_Mutation	SNP	G	TCGA-13-0910-01A-01W-0421-09	16267688	43821202	90030693	20	5957											
ATP2B1	490	genome.wustl.edu	37	12	89995184	89995184	+	Silent	SNP	T	T	C			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr12:89995184T>C	ENST00000428670.3	-	19	3543	c.3087A>G	c.(3085-3087)aaA>aaG	p.K1029K	ATP2B1_ENST00000359142.3_Silent_p.K1029K|ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000261173.2_Silent_p.K1029K|ATP2B1_ENST00000393164.2_Silent_p.K772K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1029					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.K1029K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AACTGAAAGGTTTTCCACCAA	0.299																																																1	Substitution - coding silent(1)	ovary(1)	12											79	87	84					12																	89995184		2203	4299	6502	88519315	SO:0001819	synonymous_variant	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3087A>G	12.37:g.89995184T>C			88519315	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	CCDS9035.1																																																																																				0.299	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		C	89995184	T	C	89995184	2	2	110	1	0	0	0	0	0	0	0	1	1139	1722	60	4		4	ATP2B1	12	89995184	Silent	SNP	T	TCGA-13-0910-01A-01W-0421-09	46173982	89995184	43856711	21	5958											
TP53	7157	genome.wustl.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000574684.1_5'Flank	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	AGGACAGGCACAAACACGCAC	0.552		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"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	17	GRCh37	CM076568|CM951234	TP53	M							71	61	64					17																	7577114		2203	4300	6503	7517839	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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr		7517839	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	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	0.99883	0.9944	M	0.92738	3.34	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;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577114	C	T	7577114	3	4	110	1	0	0	0	0	1	0	0	0	16381	478	17	2	462	2	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-13-0910-01A-01W-0421-09		7577114	73618096	22	5959											
TOM1L1	10040	genome.wustl.edu	37	17	52993155	52993155	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr17:52993155G>A	ENST00000575882.1	+	7	1005	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	TOM1L1_ENST00000445275.2_Missense_Mutation_p.V218M|TOM1L1_ENST00000575333.1_Missense_Mutation_p.V218M|TOM1L1_ENST00000540336.1_Missense_Mutation_p.V106M|TOM1L1_ENST00000348161.4_Missense_Mutation_p.V141M|TOM1L1_ENST00000572158.1_Missense_Mutation_p.V211M|TOM1L1_ENST00000536554.1_Missense_Mutation_p.V141M|TOM1L1_ENST00000572405.1_Missense_Mutation_p.V183M|TOM1L1_ENST00000570371.1_Missense_Mutation_p.V218M	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	218	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.V218M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GAATGTGCGAGTGATGTCCGC	0.428																																																1	Substitution - Missense(1)	ovary(1)	17											227	203	211					17																	52993155		2203	4300	6503	50348154	SO:0001583	missense	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.652G>A	17.37:g.52993155G>A	ENSP00000460823:p.Val218Met		50348154	Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187659	0.78789	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	6.17	4.17	0.49024	GAT (2);	0.000000	0.64402	D	0.000007	T	0.68933	0.3055	M	0.82323	2.585	0.46849	D	0.999221	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.74131	-0.3764	10	0.87932	D	0	-10.2287	11.8116	0.52185	0.1458:0.0:0.8542:0.0	.	106;211;141;218;218;141	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;.;TM1L1_HUMAN;.;.	M	218;106;141;141	ENSP00000408958:V218M;ENSP00000441242:V106M;ENSP00000343901:V141M;ENSP00000443099:V141M	ENSP00000343901:V141M	V	+	1	0	TOM1L1	50348154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.267000	0.65530	1.626000	0.50381	0.655000	0.94253	GTG		0.428	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		A	52993155	G	A	52993155	3	1	110	1	0	0	0	0	1	0	0	0	16352	1029	36	2	678	2	TOM1L1	17	52993155	Missense_Mutation	SNP	G	TCGA-13-0910-01A-01W-0421-09	45416041	52993155	28202055	23	5960											
ANKRD29	147463	genome.wustl.edu	37	18	21214110	21214110	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr18:21214110C>T	ENST00000592179.1	-	5	488	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	ANKRD29_ENST00000284207.7_Missense_Mutation_p.G112R|ANKRD29_ENST00000322980.9_Missense_Mutation_p.G112R	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	112			G -> E (in dbSNP:rs17855552). {ECO:0000269|PubMed:15489334}.					p.G112R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCGGTGCCCCCGTCCTATGGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	18											80	63	69					18																	21214110		2203	4300	6503	19468108	SO:0001583	missense	147463			AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"Ankyrin repeat domain containing"	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.334G>A	18.37:g.21214110C>T	ENSP00000468354:p.Gly112Arg		19468108	B2R972|Q6ZWE8|Q96LU9	Missense_Mutation	SNP	ENST00000592179.1	37	CCDS11879.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890053	0.72524	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	T;D	0.86297	-0.76;-2.1	5.66	5.66	0.87406	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.93903	0.8049	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93881	0.7171	10	0.66056	D	0.02	.	18.8957	0.92423	0.0:1.0:0.0:0.0	.	112;112	Q8N6D5-3;Q8N6D5	.;ANR29_HUMAN	R	112	ENSP00000323387:G112R;ENSP00000284207:G112R	ENSP00000284207:G112R	G	-	1	0	ANKRD29	19468108	1.000000	0.71417	0.945000	0.38365	0.167000	0.22549	6.746000	0.74866	2.832000	0.97577	0.655000	0.94253	GGG		0.498	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		T	21214110	C	T	21214110	3	4	110	1	0	0	0	0	1	0	0	0	657	652	23	1	595	1	ANKRD29	18	21214110	Missense_Mutation	SNP	C	TCGA-13-0910-01A-01W-0421-09		21214110	56863138	24	5961											
LILRB4	11006	genome.wustl.edu	37	19	55179359	55179359	+	Silent	SNP	C	C	T	rs191773308		TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr19:55179359C>T	ENST00000391736.1	+	14	1551	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	LILRB4_ENST00000391734.3_Silent_p.Y359Y|LILRB4_ENST00000270452.2_Silent_p.Y412Y|LILRB4_ENST00000391733.3_Silent_p.Y413Y|LILRB4_ENST00000430952.2_Silent_p.Y411Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	412					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.Y412Y(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATGTGACCTACGCCCAGCTGC	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		15371	0		0	False		,,,				2504	0															2	Substitution - coding silent(2)	ovary(1)|lung(1)	19											77	82	80					19																	55179359		2203	4300	6503	59871171	SO:0001819	synonymous_variant	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1236C>T	19.37:g.55179359C>T			59871171	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	CCDS12902.1																																																																																				0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			T	55179359	C	T	55179359	2	4	110	1	0	0	0	0	0	0	0	1	8793	547	19	1		1	LILRB4	19	55179359	Silent	SNP	C	TCGA-13-0910-01A-01W-0421-09		55179359	3949624	25	5962											
ZNF295	49854	genome.wustl.edu	37	21	43411450	43411450	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chr21:43411450T>G	ENST00000310826.5	-	3	2938	c.2755A>C	c.(2755-2757)Acg>Ccg	p.T919P	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.T718P|ZBTB21_ENST00000398499.1_Missense_Mutation_p.T919P|ZBTB21_ENST00000398511.3_Missense_Mutation_p.T919P	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	919					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.T919P(1)									TTATGCACCGTGAACATCTTC	0.537																																																1	Substitution - Missense(1)	ovary(1)	21											75	72	73					21																	43411450		2203	4300	6503	42284519	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2755A>C	21.37:g.43411450T>G	ENSP00000308759:p.Thr919Pro		42284519	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.973908	0.34848	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.87	-4.59	0.03400	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.348037	0.28538	N	0.014984	T	0.33731	0.0873	L	0.45698	1.435	0.31700	N	0.640843	B;B	0.16166	0.001;0.016	B;B	0.16289	0.003;0.015	T	0.06058	-1.0848	10	0.46703	T	0.11	-3.5865	10.0238	0.42059	0.1509:0.0:0.2572:0.5919	.	718;919	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	P	718;919;919;919	ENSP00000381517:T718P;ENSP00000308759:T919P;ENSP00000381512:T919P;ENSP00000381523:T919P	ENSP00000308759:T919P	T	-	1	0	ZNF295	42284519	1.000000	0.71417	0.015000	0.15790	0.954000	0.61252	1.559000	0.36320	-1.140000	0.02877	0.533000	0.62120	ACG		0.537	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		G	43411450	T	G	43411450	3	3	110	1	0	0	0	0	1	0	0	0	17827	1696	59	5	449	5	ZNF295	21	43411450	Missense_Mutation	SNP	T	TCGA-13-0910-01A-01W-0421-09		43411450	4718445	26	5963											
ZNF711	7552	genome.wustl.edu	37	X	84519372	84519372	+	Silent	SNP	G	G	A			TCGA-13-0910-01A-01W-0421-09	TCGA-13-0910-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	26cebe0b-b7a7-431e-bc12-7fda22af72f3	bdd22b11-0fe4-4879-a234-46c4b5d88658	g.chrX:84519372G>A	ENST00000373165.3	+	5	1020	c.714G>A	c.(712-714)ggG>ggA	p.G238G	ZNF711_ENST00000276123.3_Silent_p.G238G|ZNF711_ENST00000360700.4_Silent_p.G238G|ZNF711_ENST00000542798.1_Silent_p.G34G|ZNF711_ENST00000395402.1_Silent_p.G216G	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	238					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.G218G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAGAAGATGGGTTTGGTTCTG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	X											79	70	73					X																	84519372		2202	4297	6499	84406028	SO:0001819	synonymous_variant	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.714G>A	X.37:g.84519372G>A			84406028	B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	CCDS35344.1																																																																																				0.328	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		A	84519372	G	A	84519372	2	1	110	1	0	0	0	0	0	0	0	1	18116	1248	44	2		2	ZNF711	23	84519372	Silent	SNP	G	TCGA-13-0910-01A-01W-0421-09		84519372	70751188	27	5964											
CAMTA1	23261	broad.mit.edu	37	1	7792592	7792592	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr1:7792592A>C	ENST00000303635.7	+	12	3206	c.2999A>C	c.(2998-3000)aAa>aCa	p.K1000T	CAMTA1_ENST00000439411.2_Missense_Mutation_p.K1000T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1000					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1000T(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGCAGCACAAACAGGCGAGC	0.627			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - Missense(1)	ovary(1)	1											55	62	59					1																	7792592		2203	4299	6502	7715179	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2999A>C	1.37:g.7792592A>C	ENSP00000306522:p.Lys1000Thr		7715179	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.794020	0.50102	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738	T;T	0.42131	0.98;0.98	5.52	4.4	0.53042	.	0.291054	0.38111	N	0.001812	T	0.28134	0.0694	N	0.25647	0.755	0.35344	D	0.786765	P;P;B	0.40731	0.702;0.728;0.179	B;B;B	0.37650	0.255;0.095;0.052	T	0.29119	-1.0022	10	0.22109	T	0.4	-13.5629	11.3109	0.49364	0.9288:0.0:0.0712:0.0	.	1000;87;1000	Q9Y6Y1-2;B4DXR3;Q9Y6Y1	.;.;CMTA1_HUMAN	T	1000;1000;87	ENSP00000306522:K1000T;ENSP00000402561:K1000T	ENSP00000306522:K1000T	K	+	2	0	CAMTA1	7715179	1.000000	0.71417	0.860000	0.33809	0.929000	0.56500	7.073000	0.76784	0.936000	0.37367	-0.385000	0.06624	AAA		0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		C	7792592	A	C	7792592	3	2	111	1	0	0	0	0	1	0	0	0	2613	14	1	5	3045	5	CAMTA1	1	7792592	Missense_Mutation	SNP	A	TCGA-13-0911-01A-01W-0420-08		7792592	241458029	1	5965											
LRP2	4036	broad.mit.edu	37	2	170063047	170063047	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr2:170063047A>G	ENST00000263816.3	-	39	7468	c.7183T>C	c.(7183-7185)Tct>Cct	p.S2395P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2395					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S2395P(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AAGGAATTAGACAAGGCAAAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											83	83	83					2																	170063047		2203	4300	6503	169771293	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7183T>C	2.37:g.170063047A>G	ENSP00000263816:p.Ser2395Pro		169771293	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	6.998	0.554341	0.13374	.	.	ENSG00000081479	ENST00000263816	D	0.91464	-2.85	6.07	3.19	0.36642	Six-bladed beta-propeller, TolB-like (1);	0.842786	0.11103	N	0.599439	T	0.81226	0.4778	N	0.21282	0.65	0.53688	D	0.999978	B	0.33238	0.403	B	0.25140	0.058	T	0.70051	-0.4978	10	0.30854	T	0.27	.	7.7904	0.29116	0.15:0.7109:0.0:0.1391	.	2395	P98164	LRP2_HUMAN	P	2395	ENSP00000263816:S2395P	ENSP00000263816:S2395P	S	-	1	0	LRP2	169771293	0.967000	0.33354	0.002000	0.10522	0.107000	0.19398	2.751000	0.47508	0.369000	0.24510	-0.331000	0.08364	TCT		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170063047	A	G	170063047	3	3	111	1	0	0	0	0	1	0	0	0	8956	275	10	4	6948	4	LRP2	2	170063047	Missense_Mutation	SNP	A	TCGA-13-0911-01A-01W-0420-08		170063047	73136326	2	5966											
CALCRL	10203	broad.mit.edu	37	2	188217026	188217026	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr2:188217026C>T	ENST00000409998.1	-	14	1724	c.943G>A	c.(943-945)Gtt>Att	p.V315I	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.V315I|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.V315I			Q16602	CALRL_HUMAN	calcitonin receptor-like	315					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.V315I(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GTGATGAGAACGCGTACAATA	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											52	49	50					2																	188217026		2203	4299	6502	187925271	SO:0001583	missense	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.943G>A	2.37:g.188217026C>T	ENSP00000386972:p.Val315Ile		187925271	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225145	0.95173	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.44482	0.92;0.92;0.92	5.82	5.82	0.92795	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000021	T	0.54013	0.1832	L	0.48174	1.505	0.80722	D	1	D	0.65815	0.995	D	0.65443	0.935	T	0.37979	-0.9682	10	0.06891	T	0.86	.	19.0733	0.93148	0.0:1.0:0.0:0.0	.	315	Q16602	CALRL_HUMAN	I	315	ENSP00000376177:V315I;ENSP00000386972:V315I;ENSP00000387190:V315I	ENSP00000376177:V315I	V	-	1	0	CALCRL	187925271	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.807000	0.86032	2.758000	0.94735	0.650000	0.86243	GTT		0.333	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		T	188217026	C	T	188217026	3	4	111	1	0	0	0	0	1	0	0	0	2580	536	19	1	454	1	CALCRL	2	188217026	Missense_Mutation	SNP	C	TCGA-13-0911-01A-01W-0420-08	18153979	188217026	54982347	3	5967											
AGAP1	116987	broad.mit.edu	37	2	236708132	236708132	+	Missense_Mutation	SNP	G	G	A	rs369405118		TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr2:236708132G>A	ENST00000304032.8	+	8	1503	c.923G>A	c.(922-924)cGc>cAc	p.R308H	AGAP1_ENST00000336665.5_Missense_Mutation_p.R308H|AGAP1_ENST00000409457.1_Missense_Mutation_p.R308H|AGAP1_ENST00000409538.1_Missense_Mutation_p.R573H|AGAP1_ENST00000428334.2_Missense_Mutation_p.R147H	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	308					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.R308H(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACGCCCGTTCGCAAGCAGTCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	2						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	103	87	92		923,923	5.2	1	2		92	0,8600		0,0,4300	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	308/858,308/805	236708132	1,13005	2203	4300	6503	236372871	SO:0001583	missense	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.923G>A	2.37:g.236708132G>A	ENSP00000307634:p.Arg308His		236372871	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989569	0.53934	2.27E-4	0.0	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.19	5.19	0.71726	.	0.137437	0.49305	D	0.000142	T	0.47488	0.1448	L	0.40543	1.245	0.80722	D	1	D;P	0.89917	1.0;0.622	D;B	0.83275	0.996;0.067	T	0.22347	-1.0219	10	0.25751	T	0.34	.	18.7434	0.91782	0.0:0.0:1.0:0.0	.	308;308	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	H	308;308;308;573;147	ENSP00000387174:R308H;ENSP00000307634:R308H;ENSP00000338378:R308H;ENSP00000386897:R573H;ENSP00000411824:R147H	ENSP00000307634:R308H	R	+	2	0	AGAP1	236372871	1.000000	0.71417	0.988000	0.46212	0.524000	0.34500	9.712000	0.98738	2.430000	0.82344	0.655000	0.94253	CGC		0.557	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		A	236708132	G	A	236708132	3	1	111	1	0	0	0	0	1	0	0	0	366	1087	38	1	953	1	AGAP1	2	236708132	Missense_Mutation	SNP	G	TCGA-13-0911-01A-01W-0420-08	48491106	236708132	6491241	4	5968											
CAMKV	79012	broad.mit.edu	37	3	49898959	49898959	+	Silent	SNP	C	C	T	rs142554452		TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr3:49898959C>T	ENST00000477224.1	-	5	832	c.354G>A	c.(352-354)tcG>tcA	p.S118S	CAMKV_ENST00000498324.1_5'UTR|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000463537.1_Silent_p.S118S|CAMKV_ENST00000466940.1_Intron|CAMKV_ENST00000467248.1_Silent_p.S43S|CAMKV_ENST00000296471.7_Silent_p.S118S|CAMKV_ENST00000488336.1_Silent_p.S118S			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.S118S(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTCTCGCTCCGAGTAGTAGC	0.612																																																1	Substitution - coding silent(1)	ovary(1)	3						C		1,4405	2.1+/-5.4	0,1,2202	109	87	95		354	-0.7	1	3	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CAMKV	NM_024046.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		118/502	49898959	3,13003	2203	4300	6503	49873963	SO:0001819	synonymous_variant	79012			BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.354G>A	3.37:g.49898959C>T			49873963	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP	ENST00000477224.1	37	CCDS33762.1																																																																																				0.612	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		T	49898959	C	T	49898959	2	4	111	1	0	0	0	0	0	0	0	1	2608	639	23	1		1	CAMKV	3	49898959	Silent	SNP	C	TCGA-13-0911-01A-01W-0420-08		49898959	148123471	5	5969											
CD47	961	broad.mit.edu	37	3	107799014	107799014	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr3:107799014G>C	ENST00000361309.5	-	2	329	c.224C>G	c.(223-225)tCc>tGc	p.S75C	CD47_ENST00000355354.7_Missense_Mutation_p.S75C	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	75	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)	p.S75C(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GGGGACAGTGGACTTGTTTAG	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											173	153	159					3																	107799014		1876	4108	5984	109281704	SO:0001583	missense	961				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1682	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibody 1D8", "antigenic surface determinant protein OA3", "integrin associated protein", "Rh-related antigen", "leukocyte surface antigen CD47", "CD47 glycoprotein"	601028	"CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.224C>G	3.37:g.107799014G>C	ENSP00000355361:p.Ser75Cys		109281704	A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	ENST00000361309.5	37	CCDS43126.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784168	0.49997	.	.	ENSG00000196776	ENST00000355354;ENST00000361309	T;T	0.02763	4.17;4.17	6.04	3.8	0.43715	Immunoglobulin-like (1);CD47 immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.918616	0.09356	N	0.813410	T	0.05410	0.0143	L	0.55481	1.735	0.09310	N	1	D;D;D;D	0.57899	0.976;0.976;0.981;0.981	P;P;P;P	0.50109	0.497;0.497;0.631;0.631	T	0.41893	-0.9483	10	0.35671	T	0.21	.	3.7915	0.08722	0.1583:0.0:0.6115:0.2302	.	75;75;75;75	Q08722-2;Q08722-3;E9PB22;Q08722	.;.;.;CD47_HUMAN	C	75	ENSP00000347512:S75C;ENSP00000355361:S75C	ENSP00000347512:S75C	S	-	2	0	CD47	109281704	0.000000	0.05858	0.010000	0.14722	0.020000	0.10135	0.036000	0.13819	2.873000	0.98535	0.561000	0.74099	TCC		0.373	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777		C	107799014	G	C	107799014	3	2	111	1	0	0	0	0	1	0	0	0	3019	1174	41	3	791	3	CD47	3	107799014	Missense_Mutation	SNP	G	TCGA-13-0911-01A-01W-0420-08	57900055	107799014	90223416	6	5970											
RAP1GDS1	5910	broad.mit.edu	37	4	99325731	99325731	+	Silent	SNP	T	T	C			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr4:99325731T>C	ENST00000408927.3	+	7	854	c.741T>C	c.(739-741)gtT>gtC	p.V247V	RAP1GDS1_ENST00000408900.3_Silent_p.V198V|RAP1GDS1_ENST00000380158.4_Silent_p.V199V|RAP1GDS1_ENST00000339360.5_Silent_p.V248V|RAP1GDS1_ENST00000453712.2_Silent_p.V248V|RAP1GDS1_ENST00000264572.7_Silent_p.V156V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	247					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.V248V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTTTTGAAGTTCTTGCTCCAT	0.318			T	NUP98	T-ALL																																		Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	1	Substitution - coding silent(1)	ovary(1)	4											94	93	93					4																	99325731		1816	4068	5884	99544754	SO:0001819	synonymous_variant	5910				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.741T>C	4.37:g.99325731T>C			99544754	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Silent	SNP	ENST00000408927.3	37	CCDS43253.1																																																																																				0.318	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		C	99325731	T	C	99325731	2	2	111	1	0	0	0	0	0	0	0	1	13042	1770	62	4		4	RAP1GDS1	4	99325731	Silent	SNP	T	TCGA-13-0911-01A-01W-0420-08		99325731	91828545	7	5971											
FAM134B	54463	broad.mit.edu	37	5	16479054	16479054	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr5:16479054A>G	ENST00000306320.9	-	6	799	c.713T>C	c.(712-714)aTt>aCt	p.I238T	FAM134B_ENST00000399793.2_Missense_Mutation_p.I97T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	238					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.I238T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TTTTTGTCCAATATCATTACA	0.343																																																1	Substitution - Missense(1)	ovary(1)	5											61	57	58					5																	16479054		1818	4062	5880	16532054	SO:0001583	missense	54463			BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.713T>C	5.37:g.16479054A>G	ENSP00000304642:p.Ile238Thr		16532054	Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990520	0.54041	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.43294	0.95;0.95	5.61	5.61	0.85477	.	0.165970	0.53938	D	0.000049	T	0.37461	0.1004	N	0.19112	0.55	0.36263	D	0.854666	P;P	0.42584	0.784;0.467	P;B	0.45753	0.492;0.143	T	0.49244	-0.8960	10	0.49607	T	0.09	-10.1813	15.8086	0.78538	1.0:0.0:0.0:0.0	.	238;97	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	T	97;238	ENSP00000382691:I97T;ENSP00000304642:I238T	ENSP00000304642:I238T	I	-	2	0	FAM134B	16532054	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	6.587000	0.74071	2.147000	0.66899	0.477000	0.44152	ATT		0.343	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		G	16479054	A	G	16479054	3	3	111	1	0	0	0	0	1	0	0	0	5446	101	4	4	796	4	FAM134B	5	16479054	Missense_Mutation	SNP	A	TCGA-13-0911-01A-01W-0420-08		16479054	164436206	8	5972											
PCDHGA2	56113	broad.mit.edu	37	5	140718758	140718758	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr5:140718758C>T	ENST00000394576.2	+	1	220	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L74F(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGTCCCAGCTCTTTGCTCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	5											64	68	67					5																	140718758		2203	4300	6503	140698942	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.220C>T	5.37:g.140718758C>T	ENSP00000378077:p.Leu74Phe		140698942	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.921	1.212230	0.22289	.	.	ENSG00000081853	ENST00000394576	T	0.29142	1.58	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.418307	0.17351	U	0.177413	T	0.33469	0.0864	L	0.58354	1.805	0.23391	N	0.997773	B;B	0.25809	0.135;0.044	B;B	0.36335	0.222;0.104	T	0.27739	-1.0065	10	0.51188	T	0.08	.	7.2883	0.26352	0.0:0.7863:0.0:0.2137	.	74;74	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	F	74	ENSP00000378077:L74F	ENSP00000378077:L74F	L	+	1	0	PCDHGA2	140698942	0.003000	0.15002	1.000000	0.80357	0.317000	0.28152	0.737000	0.26144	2.525000	0.85131	0.591000	0.81541	CTC		0.592	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		T	140718758	C	T	140718758	3	4	111	1	0	0	0	0	1	0	0	0	11554	797	28	2	222	2	PCDHGA2	5	140718758	Missense_Mutation	SNP	C	TCGA-13-0911-01A-01W-0420-08	124239704	140718758	40196502	9	5973											
SOSTDC1	25928	broad.mit.edu	37	7	16505224	16505224	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr7:16505224A>G	ENST00000307068.4	-	1	250	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L	SOSTDC1_ENST00000396652.1_Missense_Mutation_p.F24L	NM_015464.2	NP_056279.1	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	24					hair follicle morphogenesis (GO:0031069)|mammary gland bud morphogenesis (GO:0060648)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell fate commitment (GO:0010454)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.F24L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCATTTTTAAAAGCCAAACAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	7											118	115	116					7																	16505224		2203	4300	6503	16471749	SO:0001583	missense	25928			AB059270	CCDS5360.1	7p21.2	2007-08-01			ENSG00000171243	ENSG00000171243			21748	protein-coding gene	gene with protein product	"ectodin"	609675					Standard	NM_015464		Approved	DKFZp564D206, USAG1	uc003stg.3	Q6X4U4	OTTHUMG00000090807	ENST00000307068.4:c.70T>C	7.37:g.16505224A>G	ENSP00000304930:p.Phe24Leu		16471749	A8MUA6|Q96HJ7|Q9Y3U3	Missense_Mutation	SNP	ENST00000307068.4	37	CCDS5360.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.034664	0.54896	.	.	ENSG00000171243	ENST00000307068;ENST00000396652	D;D	0.82526	-1.62;-1.62	5.93	5.93	0.95920	.	0.165232	0.53938	D	0.000053	T	0.75406	0.3845	L	0.29908	0.895	0.52501	D	0.999952	B;B	0.25809	0.135;0.014	B;B	0.26416	0.069;0.026	T	0.70590	-0.4830	10	0.21014	T	0.42	-12.0841	16.3797	0.83452	1.0:0.0:0.0:0.0	.	24;24	A8MUA6;Q6X4U4	.;SOSD1_HUMAN	L	24	ENSP00000304930:F24L;ENSP00000379889:F24L	ENSP00000304930:F24L	F	-	1	0	SOSTDC1	16471749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.376000	0.66178	2.271000	0.75665	0.533000	0.62120	TTT		0.448	SOSTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207603.1	NM_015464		G	16505224	A	G	16505224	3	3	111	1	0	0	0	0	1	0	0	0	14942	14	1	4	558	4	SOSTDC1	7	16505224	Missense_Mutation	SNP	A	TCGA-13-0911-01A-01W-0420-08		16505224	142633439	10	5974											
ARL5B	221079	broad.mit.edu	37	10	18955515	18955515	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr10:18955515A>G	ENST00000377275.3	+	2	291	c.58A>G	c.(58-60)Att>Gtt	p.I20V		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	20					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.I20V(1)		lung(1)|ovary(1)	2						ACACAAAGTAATTATAGTGGG	0.303																																																1	Substitution - Missense(1)	ovary(1)	10											158	155	156					10																	18955515		2203	4295	6498	18995521	SO:0001583	missense	221079			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23052	protein-coding gene	gene with protein product		608909	"ADP-ribosylation factor-like 8"	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.58A>G	10.37:g.18955515A>G	ENSP00000366487:p.Ile20Val		18995521		Missense_Mutation	SNP	ENST00000377275.3	37	CCDS7131.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929608	0.52759	.	.	ENSG00000165997	ENST00000377275	T	0.61980	0.06	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.044478	0.85682	D	0.000000	T	0.46210	0.1381	N	0.05592	-0.015	0.80722	D	1	B	0.17667	0.023	B	0.23150	0.044	T	0.46062	-0.9218	10	0.87932	D	0	-16.5758	16.0108	0.80402	1.0:0.0:0.0:0.0	.	20	Q96KC2	ARL5B_HUMAN	V	20	ENSP00000366487:I20V	ENSP00000366487:I20V	I	+	1	0	ARL5B	18995521	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.905000	0.92613	2.242000	0.73789	0.482000	0.46254	ATT		0.303	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815		G	18955515	A	G	18955515	3	3	111	1	0	0	0	0	1	0	0	0	940	101	4	4	64	4	ARL5B	10	18955515	Missense_Mutation	SNP	A	TCGA-13-0911-01A-01W-0420-08		18955515	116579232	11	5975											
MS4A3	932	broad.mit.edu	37	11	59834458	59834458	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr11:59834458C>A	ENST00000278865.3	+	5	459	c.386C>A	c.(385-387)gCt>gAt	p.A129D	MS4A3_ENST00000395032.2_Missense_Mutation_p.A6D|MS4A3_ENST00000358152.2_Missense_Mutation_p.A83D|MS4A3_ENST00000534744.1_Missense_Mutation_p.A83D	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	129						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A129D(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ATTGCCAGTGCTACAATTGCA	0.368																																																1	Substitution - Missense(1)	ovary(1)	11											82	73	76					11																	59834458		2201	4295	6496	59591034	SO:0001583	missense	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.386C>A	11.37:g.59834458C>A	ENSP00000278865:p.Ala129Asp		59591034	A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439235	0.43326	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	T;T;T;T	0.02812	4.15;4.15;4.15;4.15	4.21	4.21	0.49690	.	0.440036	0.23470	N	0.047834	T	0.13798	0.0334	M	0.84219	2.685	0.21719	N	0.999571	D;D	0.69078	0.996;0.997	D;D	0.64877	0.93;0.924	T	0.01570	-1.1322	10	0.66056	D	0.02	-2.7717	11.8993	0.52673	0.0:1.0:0.0:0.0	.	83;129	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	D	6;83;129;83	ENSP00000378473:A6D;ENSP00000350872:A83D;ENSP00000278865:A129D;ENSP00000434117:A83D	ENSP00000278865:A129D	A	+	2	0	MS4A3	59591034	0.005000	0.15991	0.040000	0.18447	0.425000	0.31504	1.663000	0.37429	2.154000	0.67381	0.471000	0.43371	GCT		0.368	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			A	59834458	C	A	59834458	3	1	111	1	0	0	0	0	1	0	0	0	9861	797	28	3	400	3	MS4A3	11	59834458	Missense_Mutation	SNP	C	TCGA-13-0911-01A-01W-0420-08		59834458	75172058	12	5976											
RPS6KB2	6199	broad.mit.edu	37	11	67200504	67200504	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr11:67200504T>C	ENST00000312629.5	+	8	743	c.698T>C	c.(697-699)aTt>aCt	p.I233T	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000539188.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.I233T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGCGGCACCATTGAGTACATG	0.617																																																1	Substitution - Missense(1)	ovary(1)	11											35	40	38					11																	67200504		2052	4196	6248	66957080	SO:0001583	missense	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.698T>C	11.37:g.67200504T>C	ENSP00000308413:p.Ile233Thr		66957080	B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083771	0.76642	.	.	ENSG00000175634	ENST00000312629	T	0.25579	1.79	4.76	4.76	0.60689	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	0.32041	0.0816	N	0.13043	0.29	0.80722	D	1	P;P	0.46457	0.693;0.878	P;D	0.70487	0.908;0.969	T	0.10683	-1.0619	9	.	.	.	.	13.3809	0.60766	0.0:0.0:0.0:1.0	.	233;233	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	T	233	ENSP00000308413:I233T	.	I	+	2	0	RPS6KB2	66957080	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.331000	0.79192	1.991000	0.58162	0.459000	0.35465	ATT		0.617	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		C	67200504	T	C	67200504	3	2	111	1	0	0	0	0	1	0	0	0	13660	1493	52	4	728	4	RPS6KB2	11	67200504	Missense_Mutation	SNP	T	TCGA-13-0911-01A-01W-0420-08	7366046	67200504	67806012	13	5977											
FSCB	84075	broad.mit.edu	37	14	44974851	44974851	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr14:44974851T>A	ENST00000340446.4	-	1	1631	c.1340A>T	c.(1339-1341)gAg>gTg	p.E447V	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	447						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E447V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCAGGGGTCTCCATAGCTGT	0.498																																																1	Substitution - Missense(1)	ovary(1)	14											22	23	23					14																	44974851		2187	4296	6483	44044601	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1340A>T	14.37:g.44974851T>A	ENSP00000344579:p.Glu447Val		44044601	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	T	8.932	0.963707	0.18583	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.18016	2.24	3.44	-1.06	0.10002	.	.	.	.	.	T	0.13243	0.0321	M	0.62723	1.935	0.09310	N	1	B	0.33044	0.395	B	0.26416	0.069	T	0.21449	-1.0245	9	0.40728	T	0.16	1.7165	3.425	0.07408	0.3859:0.1141:0.0:0.5	.	447	Q5H9T9	FSCB_HUMAN	V	447	ENSP00000344579:E447V	ENSP00000344579:E447V	E	-	2	0	FSCB	44044601	0.996000	0.38824	0.000000	0.03702	0.068000	0.16541	2.471000	0.45127	0.029000	0.15352	0.438000	0.28831	GAG		0.498	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		A	44974851	T	A	44974851	3	1	111	1	0	0	0	0	1	0	0	0	6066	1551	54	5	1141	5	FSCB	14	44974851	Missense_Mutation	SNP	T	TCGA-13-0911-01A-01W-0420-08		44974851	62374689	14	5978											
LCTL	197021	broad.mit.edu	37	15	66850125	66850125	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr15:66850125C>G	ENST00000341509.5	-	8	988	c.857G>C	c.(856-858)tGt>tCt	p.C286S	LCTL_ENST00000537670.1_Missense_Mutation_p.C113S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	286					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.C286S(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGCCCAGACAGAACTGTAG	0.498																																																1	Substitution - Missense(1)	ovary(1)	15											101	106	104					15																	66850125		2201	4299	6500	64637179	SO:0001583	missense	197021			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.857G>C	15.37:g.66850125C>G	ENSP00000343490:p.Cys286Ser		64637179	B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258754	0.23051	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.48836	0.8;1.64	5.44	3.5	0.40072	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.382919	0.33235	N	0.005137	T	0.22244	0.0536	N	0.04787	-0.16	0.31941	N	0.610888	B	0.15473	0.013	B	0.17433	0.018	T	0.14727	-1.0462	10	0.22109	T	0.4	-27.6709	5.8369	0.18613	0.0:0.5167:0.3336:0.1497	.	286	Q6UWM7	LCTL_HUMAN	S	113;286	ENSP00000445419:C113S;ENSP00000343490:C286S	ENSP00000343490:C286S	C	-	2	0	LCTL	64637179	0.913000	0.31002	1.000000	0.80357	0.978000	0.69477	0.940000	0.28992	0.628000	0.30357	0.655000	0.94253	TGT		0.498	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		G	66850125	C	G	66850125	3	3	111	1	0	0	0	0	1	0	0	0	8694	478	17	3	870	3	LCTL	15	66850125	Missense_Mutation	SNP	C	TCGA-13-0911-01A-01W-0420-08		66850125	35681267	15	5979											
TP53	7157	broad.mit.edu	37	17	7579556	7579560	+	Frame_Shift_Del	DEL	ATCAA	ATCAA	-			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	ATCAA	ATCAA	-	-	ATCAA	ATCAA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr17:7579556_7579560delATCAA	ENST00000269305.4	-	4	316_320	c.127_131delTTGAT	c.(127-132)ttgatgfs	p.LM43fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.LM43fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.LM43fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.LM43fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.LM43fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.LM43fs	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	43	Interaction with HRMT1L2.|Transcription activation (acidic).		L -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.M44T(1)|p.M44fs*79(1)|p.L43fs*7(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S37fs*79(1)|p.M44V(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)	CGGGGACAGCATCAAATCATCCATT	0.6		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"	15	Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Missense(2)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)|prostate(1)	17																																								7520285	SO:0001589	frameshift_variant	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.127_131delTTGAT	17.37:g.7579556_7579560delATCAA	ENSP00000269305:p.Leu43fs		7520281	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.6	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579560	ATCAA	-	7579556	7	5	111	1	0	1	0	1	0	0	0	0	16381	217	8	0	1171	0	TP53	17	7579556	Frame_Shift_Del	DEL	ATCAA	TCGA-13-0911-01A-01W-0420-08		7579556	73615654	16	5980											
NETO1	81832	broad.mit.edu	37	18	70526214	70526214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr18:70526214C>A	ENST00000327305.6	-	4	973	c.316G>T	c.(316-318)Gga>Tga	p.G106*	NETO1_ENST00000299430.2_Nonsense_Mutation_p.G105*|NETO1_ENST00000397929.1_Nonsense_Mutation_p.G105*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.G106*|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	106	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.G106*(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCAAAAGGTCCATCTCGAACT	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	18											95	94	94					18																	70526214		2203	4300	6503	68677194	SO:0001587	stop_gained	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.316G>T	18.37:g.70526214C>A	ENSP00000313088:p.Gly106*		68677194	Q86W85|Q8ND78|Q8TDF4	Nonsense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	41	9.099600	0.99066	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	.	.	.	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	6.4416	19.438	0.94806	0.0:1.0:0.0:0.0	.	.	.	.	X	106;105;105	.	ENSP00000299430:G105X	G	-	1	0	NETO1	68677194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.724000	0.84798	2.672000	0.90937	0.655000	0.94253	GGA		0.378	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		A	70526214	C	A	70526214	4	1	111	1	0	0	0	0	0	1	0	0	10339	603	21	3	1322	3	NETO1	18	70526214	Nonsense_Mutation	SNP	C	TCGA-13-0911-01A-01W-0420-08		70526214	7551034	17	5981											
OR1I1	126370	broad.mit.edu	37	19	15197970	15197970	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr19:15197970C>G	ENST00000209540.2	+	1	180	c.94C>G	c.(94-96)Ctc>Gtc	p.L32V		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L32V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CACAATGTTCCTCTCCACATA	0.473																																																1	Substitution - Missense(1)	ovary(1)	19											254	217	230					19																	15197970		2203	4300	6503	15058970	SO:0001583	missense	126370			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.94C>G	19.37:g.15197970C>G	ENSP00000209540:p.Leu32Val		15058970	Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	CCDS32937.1	.	.	.	.	.	.	.	.	.	.	c	12.46	1.943246	0.34283	.	.	ENSG00000094661	ENST00000209540	T	0.01902	4.57	4.98	3.92	0.45320	.	0.341387	0.16418	U	0.215284	T	0.15349	0.0370	H	0.99444	4.57	0.29849	N	0.828589	D	0.53885	0.963	P	0.48454	0.578	T	0.42120	-0.9470	10	0.72032	D	0.01	.	11.4678	0.50249	0.0:0.9098:0.0:0.0902	.	32	O60431	OR1I1_HUMAN	V	32	ENSP00000209540:L32V	ENSP00000209540:L32V	L	+	1	0	OR1I1	15058970	0.018000	0.18449	0.988000	0.46212	0.029000	0.11900	0.420000	0.21263	2.590000	0.87494	0.655000	0.94253	CTC		0.473	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			G	15197970	C	G	15197970	3	3	111	1	0	0	0	0	1	0	0	0	10958	681	24	3	96	3	OR1I1	19	15197970	Missense_Mutation	SNP	C	TCGA-13-0911-01A-01W-0420-08		15197970	43931013	18	5982											
PEG3	5178	broad.mit.edu	37	19	57328817	57328817	+	Silent	SNP	T	T	C			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr19:57328817T>C	ENST00000326441.9	-	10	1356	c.993A>G	c.(991-993)gcA>gcG	p.A331A	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.A205A|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.A331A|PEG3_ENST00000598410.1_Silent_p.A207A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	331					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A331A(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGACTCCCTTGCTCTTCCCG	0.498																																																1	Substitution - coding silent(1)	ovary(1)	19											75	71	72					19																	57328817		2203	4300	6503	62020629	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.993A>G	19.37:g.57328817T>C			62020629	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57328817	T	C	57328817	2	2	111	1	0	0	0	0	0	0	0	1	11720	1799	63	4		4	PEG3	19	57328817	Silent	SNP	T	TCGA-13-0911-01A-01W-0420-08	42130847	57328817	1800166	19	5983											
APOL1	8542	broad.mit.edu	37	22	36661455	36661455	+	Silent	SNP	C	C	T	rs150846072	byFrequency	TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chr22:36661455C>T	ENST00000397278.3	+	6	802	c.573C>T	c.(571-573)ctC>ctT	p.L191L	APOL1_ENST00000347595.7_Silent_p.L70L|APOL1_ENST00000397279.4_Silent_p.L191L|APOL1_ENST00000319136.4_Silent_p.L207L|APOL1_ENST00000422706.1_Silent_p.L191L|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Silent_p.L173L	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	191					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)	p.I204fs*52(1)|p.L207L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTGACCCTCGTCGGCATGG	0.577													c|||	13	0.00259585	0	0	5008	,	,		20282	0.0099		0.003	False		,,,				2504	0															2	Deletion - Frameshift(1)|Substitution - coding silent(1)	ovary(1)|breast(1)	22						C	,,,	4,4402	8.1+/-20.4	0,4,2199	149	137	141		573,519,573,621	-0.3	0	22	dbSNP_134	141	19,8581	14.6+/-50.1	0,19,4281	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	APOL1	NM_001136540.1,NM_001136541.1,NM_003661.3,NM_145343.2	,,,	0,23,6480	TT,TC,CC		0.2209,0.0908,0.1768	,,,	191/399,173/381,191/399,207/415	36661455	23,12983	2203	4300	6503	34991401	SO:0001819	synonymous_variant	8542			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"Apolipoproteins"	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.573C>T	22.37:g.36661455C>T			34991401	A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Silent	SNP	ENST00000397278.3	37	CCDS13926.1																																																																																				0.577	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		T	36661455	C	T	36661455	2	4	111	1	0	0	0	0	0	0	0	1	805	871	31	1		1	APOL1	22	36661455	Silent	SNP	C	TCGA-13-0911-01A-01W-0420-08		36661455	14643111	20	5984											
ATP6AP1	537	broad.mit.edu	37	X	153662578	153662578	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0911-01A-01W-0420-08	TCGA-13-0911-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	32e1f90e-025a-4cf5-a90c-e202586ad3ff	74d5fc7f-4bf6-4155-9ee4-04fd942ce40f	g.chrX:153662578G>T	ENST00000369762.2	+	7	770	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	GDI1_ENST00000447750.2_5'Flank|ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	237					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.A237S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCCGTGGTGGCCGGAGGGCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											96	83	88					X																	153662578		2203	4300	6503	153315772	SO:0001583	missense	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.709G>T	X.37:g.153662578G>T	ENSP00000358777:p.Ala237Ser		153315772	A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	G	8.680	0.904943	0.17760	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.34	-0.399	0.12415	.	0.995023	0.08167	N	0.987573	T	0.22589	0.0545	N	0.12182	0.205	0.24203	N	0.995507	B;B	0.13594	0.002;0.008	B;B	0.17433	0.005;0.018	T	0.24512	-1.0158	9	0.30854	T	0.27	-0.4728	5.9406	0.19192	0.2761:0.0:0.5402:0.1838	.	197;237	B3KR70;Q15904	.;VAS1_HUMAN	S	237;167;61	.	ENSP00000358777:A237S	A	+	1	0	ATP6AP1	153315772	0.972000	0.33761	0.987000	0.45799	0.061000	0.15899	0.229000	0.17833	-0.136000	0.11475	0.529000	0.55759	GCC		0.572	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		T	153662578	G	T	153662578	3	4	111	1	0	0	0	0	1	0	0	0	1165	1203	42	3	735	3	ATP6AP1	23	153662578	Missense_Mutation	SNP	G	TCGA-13-0911-01A-01W-0420-08		153662578	1607982	21	5985											
ZZZ3	26009	genome.wustl.edu	37	1	78098228	78098228	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr1:78098228G>A	ENST00000370801.3	-	5	1287	c.812C>T	c.(811-813)tCa>tTa	p.S271L	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	271					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S271L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGCACTTGTGAATCTGTGCA	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											134	128	130					1																	78098228		2203	4300	6503	77870816	SO:0001583	missense	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.812C>T	1.37:g.78098228G>A	ENSP00000359837:p.Ser271Leu		77870816	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213213	0.58452	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.49	5.49	0.81192	.	0.512330	0.21239	N	0.077858	T	0.70824	0.3268	L	0.54323	1.7	0.80722	D	1	D;P;P	0.71674	0.998;0.9;0.939	D;P;P	0.68943	0.961;0.535;0.725	T	0.66878	-0.5812	8	.	.	.	.	19.7573	0.96299	0.0:0.0:1.0:0.0	.	271;271;271	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	L	271	.	.	S	-	2	0	ZZZ3	77870816	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.416000	0.73332	2.741000	0.93983	0.650000	0.86243	TCA		0.458	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		A	78098228	G	A	78098228	3	1	112	1	0	0	0	0	1	0	0	0	18256	1294	45	2	1943	2	ZZZ3	1	78098228	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09		78098228	171152393	1	5986											
RGS7	6000	genome.wustl.edu	37	1	241262054	241262054	+	Silent	SNP	G	G	A	rs563733368		TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr1:241262054G>A	ENST00000407727.1	-	2	86	c.87C>T	c.(85-87)gaC>gaT	p.D29D	RGS7_ENST00000446183.2_De_novo_Start_OutOfFrame|RGS7_ENST00000366565.1_Silent_p.D29D|RGS7_ENST00000331110.7_Silent_p.D3D|RGS7_ENST00000366564.1_Silent_p.D29D|RGS7_ENST00000348120.2_Silent_p.D29D|RGS7_ENST00000366562.4_Silent_p.D29D|RGS7_ENST00000401882.1_Silent_p.D29D|RGS7_ENST00000366563.1_Silent_p.D29D			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	29					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.D29D(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGCTATGACGTCTTCCATCT	0.328																																																1	Substitution - coding silent(1)	ovary(1)	1											137	122	127					1																	241262054		2203	4300	6503	239328677	SO:0001819	synonymous_variant	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.87C>T	1.37:g.241262054G>A			239328677	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37																																																																																					0.328	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		A	241262054	G	A	241262054	2	1	112	1	0	0	0	0	0	0	0	1	13313	1136	40	1		1	RGS7	1	241262054	Silent	SNP	G	TCGA-13-0912-01A-01W-0421-09	163163826	241262054	7988567	2	5987											
THADA	63892	genome.wustl.edu	37	2	43520303	43520303	+	Silent	SNP	T	T	A			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr2:43520303T>A	ENST00000405006.4	-	32	4839	c.4488A>T	c.(4486-4488)ggA>ggT	p.G1496G	THADA_ENST00000415080.2_Silent_p.G1177G|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Silent_p.G1496G	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1496								p.G1496G(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCAGCTCTGATCCTGAGATAA	0.502																																																1	Substitution - coding silent(1)	ovary(1)	2											57	60	59					2																	43520303		1906	4121	6027	43373807	SO:0001819	synonymous_variant	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4488A>T	2.37:g.43520303T>A			43373807	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	8.833	0.940272	0.18281	.	.	ENSG00000115970	ENST00000407351	.	.	.	5.46	1.55	0.23275	.	.	.	.	.	T	0.42494	0.1205	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	T	0.34179	-0.9839	4	.	.	.	-6.6876	1.2298	0.01941	0.2642:0.0912:0.1601:0.4845	.	.	.	.	V	736	.	.	D	-	2	0	THADA	43373807	0.183000	0.23186	0.771000	0.31576	0.835000	0.47333	0.247000	0.18179	0.976000	0.38417	0.529000	0.55759	GAT		0.502	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		A	43520303	T	A	43520303	2	1	112	1	0	0	0	0	0	0	0	1	15840	1422	50	5		5	THADA	2	43520303	Silent	SNP	T	TCGA-13-0912-01A-01W-0421-09		43520303	199679070	3	5988											
ACCN4	55515	genome.wustl.edu	37	2	220399975	220399975	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr2:220399975G>T	ENST00000347842.3	+	5	1496	c.1482G>T	c.(1480-1482)atG>atT	p.M494I	ASIC4_ENST00000358078.4_Missense_Mutation_p.M513I	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	494					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.M513I(1)									AGATCTCCATGGTCAGGATCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	2											57	48	51					2																	220399975		2203	4300	6503	220108219	SO:0001583	missense	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1482G>T	2.37:g.220399975G>T	ENSP00000326627:p.Met494Ile		220108219	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051350	0.93740	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.63255	-0.03;-0.03	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.72624	2.21	0.80722	D	1	D;P	0.54207	0.965;0.876	P;P	0.54706	0.721;0.759	T	0.75025	-0.3463	10	0.45353	T	0.12	-18.7084	18.1597	0.89704	0.0:0.0:1.0:0.0	.	494;513	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	I	494;513	ENSP00000326627:M494I;ENSP00000350786:M513I	ENSP00000326627:M494I	M	+	3	0	ACCN4	220108219	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.647000	0.83462	2.602000	0.87976	0.650000	0.86243	ATG		0.617	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		T	220399975	G	T	220399975	3	4	112	1	0	0	0	0	1	0	0	0	131	1348	47	3	1561	3	ACCN4	2	220399975	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09	176879672	220399975	22799398	4	5989											
AGAP1	116987	genome.wustl.edu	37	2	236817467	236817467	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr2:236817467C>T	ENST00000304032.8	+	11	1821	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	AGAP1_ENST00000336665.5_Missense_Mutation_p.T414M|AGAP1_ENST00000428334.2_Missense_Mutation_p.T253M|AGAP1_ENST00000409538.1_Missense_Mutation_p.T679M	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	414	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.T414M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCCCGAGCCACGTCAGCCTGC	0.483																																																1	Substitution - Missense(1)	ovary(1)	2											90	80	83					2																	236817467		2203	4300	6503	236482206	SO:0001583	missense	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1241C>T	2.37:g.236817467C>T	ENSP00000307634:p.Thr414Met		236482206	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704194	0.48412	.	.	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	4.66	4.66	0.58398	Pleckstrin homology domain (3);	0.159471	0.42682	D	0.000668	D	0.87152	0.6106	L	0.50333	1.59	0.41965	D	0.990721	P;D	0.89917	0.769;1.0	B;D	0.91635	0.233;0.999	D	0.87013	0.2124	10	0.45353	T	0.12	.	18.4385	0.90654	0.0:1.0:0.0:0.0	.	414;414	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	M	414;414;679;253	ENSP00000307634:T414M;ENSP00000338378:T414M;ENSP00000386897:T679M;ENSP00000411824:T253M	ENSP00000307634:T414M	T	+	2	0	AGAP1	236482206	1.000000	0.71417	0.992000	0.48379	0.835000	0.47333	4.507000	0.60434	2.527000	0.85204	0.655000	0.94253	ACG		0.483	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		T	236817467	C	T	236817467	3	4	112	1	0	0	0	0	1	0	0	0	366	536	19	1	1283	1	AGAP1	2	236817467	Missense_Mutation	SNP	C	TCGA-13-0912-01A-01W-0421-09	16417492	236817467	6381906	5	5990											
OXSM	54995	genome.wustl.edu	37	3	25833483	25833483	+	Silent	SNP	C	C	G			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr3:25833483C>G	ENST00000280701.3	+	2	1071	c.972C>G	c.(970-972)gcC>gcG	p.A324A	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Silent_p.A241A	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	324					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.A324A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GAGAAGGTGCCTTAAGGTAAA	0.438																																																1	Substitution - coding silent(1)	ovary(1)	3											70	74	73					3																	25833483		2203	4300	6503	25808487	SO:0001819	synonymous_variant	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.972C>G	3.37:g.25833483C>G			25808487		Silent	SNP	ENST00000280701.3	37	CCDS2643.1																																																																																				0.438	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		G	25833483	C	G	25833483	2	3	112	1	0	0	0	0	0	0	0	1	11335	668	24	3		3	OXSM	3	25833483	Silent	SNP	C	TCGA-13-0912-01A-01W-0421-09		25833483	172188947	6	5991											
NEK10	152110	genome.wustl.edu	37	3	27332149	27332149	+	Missense_Mutation	SNP	C	C	T	rs370504122		TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr3:27332149C>T	ENST00000429845.2	-	20	2064	c.1702G>A	c.(1702-1704)Gta>Ata	p.V568I	NEK10_ENST00000341435.5_Missense_Mutation_p.V568I|NEK10_ENST00000357467.2_Intron			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	568	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V568I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATATTCCTTACGCTGCTGTCT	0.323													C|||	1	0.000199681	8e-04	0	5008	,	,		20471	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3						C	ILE/VAL	2,3132		0,2,1565	113	99	103		1702	4.6	1	3		103	0,7164		0,0,3582	no	missense	NEK10	NM_199347.2	29	0,2,5147	TT,TC,CC		0.0,0.0638,0.0194	benign	568/713	27332149	2,10296	1567	3582	5149	27307153	SO:0001583	missense	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1702G>A	3.37:g.27332149C>T	ENSP00000395849:p.Val568Ile		27307153	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.076592|2.076592	0.36662|0.36662	6.38E-4|6.38E-4	0.0|0.0	ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000341435;ENST00000396636	.|T	.|0.39592	.|1.07	5.45|5.45	4.56|4.56	0.56223|0.56223	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.134086	.|0.48286	.|D	.|0.000198	T|T	0.26846|0.26846	0.0657|0.0657	N|N	0.16790|0.16790	0.44|0.44	0.80722|0.80722	D|D	1|1	.|B	.|0.17038	.|0.02	.|B	.|0.15052	.|0.012	T|T	0.04855|0.04855	-1.0922|-1.0922	5|10	.|0.32370	.|T	.|0.25	.|.	12.3274|12.3274	0.55020|0.55020	0.0:0.866:0.0:0.134|0.0:0.866:0.0:0.134	.|.	.|568	.|Q6ZWH5	.|NEK10_HUMAN	H|I	24|568	.|ENSP00000343847:V568I	.|ENSP00000343847:V568I	R|V	-|-	2|1	0|0	NEK10|NEK10	27307153|27307153	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.722000|0.722000	0.41435|0.41435	4.307000|4.307000	0.59123|0.59123	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.323	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		T	27332149	C	T	27332149	3	4	112	1	0	0	0	0	1	0	0	0	10322	536	19	1	460	1	NEK10	3	27332149	Missense_Mutation	SNP	C	TCGA-13-0912-01A-01W-0421-09	1498666	27332149	170690281	7	5992											
DNAH1	25981	genome.wustl.edu	37	3	52388951	52388951	+	Silent	SNP	C	C	T	rs541334137		TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr3:52388951C>T	ENST00000420323.2	+	21	3834	c.3573C>T	c.(3571-3573)gaC>gaT	p.D1191D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1191	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1191D(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAGCCCGGACGAGGCCTCAC	0.547													C|||	1	0.000199681	0	0.0014	5008	,	,		21309	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	3											100	106	104					3																	52388951		2102	4215	6317	52363991	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3573C>T	3.37:g.52388951C>T			52363991	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	CCDS46842.1																																																																																				0.547	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52388951	C	T	52388951	2	4	112	1	0	0	0	0	0	0	0	1	4597	535	19	1		1	DNAH1	3	52388951	Silent	SNP	C	TCGA-13-0912-01A-01W-0421-09	25056802	52388951	145633479	8	5993											
IL17RB	55540	genome.wustl.edu	37	3	53883724	53883724	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr3:53883724G>A	ENST00000288167.3	+	3	137	c.128G>A	c.(127-129)gGa>gAa	p.G43E		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	43					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)	p.G43E(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CTAATCCCCGGAGACTTGAGG	0.498																																																1	Substitution - Missense(1)	ovary(1)	3											152	150	151					3																	53883724		2203	4300	6503	53858764	SO:0001583	missense	55540			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.128G>A	3.37:g.53883724G>A	ENSP00000288167:p.Gly43Glu		53858764	Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777119	0.49786	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.22539	1.95;1.95	5.21	5.21	0.72293	.	0.000000	0.53938	D	0.000044	T	0.43787	0.1263	M	0.65975	2.015	0.40827	D	0.983553	D	0.89917	1.0	D	0.72075	0.976	T	0.34354	-0.9832	10	0.51188	T	0.08	-14.0106	14.2459	0.65988	0.0:0.0:1.0:0.0	.	43	Q9NRM6	I17RB_HUMAN	E	43	ENSP00000288167:G43E;ENSP00000418638:G43E	ENSP00000288167:G43E	G	+	2	0	IL17RB	53858764	1.000000	0.71417	0.996000	0.52242	0.279000	0.26890	4.447000	0.60020	2.419000	0.82065	0.561000	0.74099	GGA		0.498	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		A	53883724	G	A	53883724	3	1	112	1	0	0	0	0	1	0	0	0	7640	1174	41	2	138	2	IL17RB	3	53883724	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09	1494773	53883724	144138706	9	5994											
HESX1	8820	genome.wustl.edu	37	3	57232945	57232945	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr3:57232945G>C	ENST00000295934.3	-	2	229	c.193C>G	c.(193-195)Cct>Gct	p.P65A	HESX1_ENST00000473921.1_Missense_Mutation_p.P65A	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	65					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.P65A(1)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		CCACTGGGAGGATTTGGGACA	0.398																																					Esophageal Squamous(84;267 1272 9034 48993 52677)											1	Substitution - Missense(1)	ovary(1)	3											161	181	174					3																	57232945		2203	4300	6503	57207985	SO:0001583	missense	8820			AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"Homeoboxes / PRD class"	4877	protein-coding gene	gene with protein product		601802	"homeobox, ES cell expressed 1"			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.193C>G	3.37:g.57232945G>C	ENSP00000295934:p.Pro65Ala		57207985	Q52LC5|Q99667	Missense_Mutation	SNP	ENST00000295934.3	37	CCDS2881.1	.	.	.	.	.	.	.	.	.	.	G	1.901	-0.453155	0.04540	.	.	ENSG00000163666	ENST00000295934;ENST00000473921;ENST00000495160	D;D;D	0.93659	-3.26;-3.11;-1.53	5.74	2.47	0.30058	.	0.465487	0.20400	N	0.093073	T	0.78304	0.4262	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.62201	-0.6904	10	0.08381	T	0.77	-4.9881	0.2538	0.00209	0.2782:0.1571:0.3036:0.2612	.	65	Q9UBX0	HESX1_HUMAN	A	65	ENSP00000295934:P65A;ENSP00000418918:P65A;ENSP00000419615:P65A	ENSP00000295934:P65A	P	-	1	0	HESX1	57207985	0.839000	0.29477	0.029000	0.17559	0.004000	0.04260	1.131000	0.31406	1.343000	0.45638	0.563000	0.77884	CCT		0.398	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2			C	57232945	G	C	57232945	3	2	112	1	0	0	0	0	1	0	0	0	7072	1174	41	3	376	3	HESX1	3	57232945	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09	3349221	57232945	140789485	10	5995											
WDR5B	54554	genome.wustl.edu	37	3	122133514	122133514	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr3:122133514C>G	ENST00000330689.4	-	1	1368	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	288								p.E288Q(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TGCACAATCTCTTTAGTCTGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											153	143	146					3																	122133514		2203	4300	6503	123616204	SO:0001583	missense	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.862G>C	3.37:g.122133514C>G	ENSP00000330381:p.Glu288Gln		123616204	B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259600	0.80246	.	.	ENSG00000196981	ENST00000330689	T	0.61742	0.08	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045885	0.85682	D	0.000000	T	0.49029	0.1533	L	0.37630	1.12	0.80722	D	1	P	0.40875	0.731	B	0.41619	0.361	T	0.37572	-0.9700	10	0.15952	T	0.53	.	15.7027	0.77555	0.0:1.0:0.0:0.0	.	288	Q86VZ2	WDR5B_HUMAN	Q	288	ENSP00000330381:E288Q	ENSP00000330381:E288Q	E	-	1	0	WDR5B	123616204	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.838000	0.75359	2.644000	0.89710	0.561000	0.74099	GAG		0.398	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		G	122133514	C	G	122133514	3	3	112	1	0	0	0	0	1	0	0	0	17309	922	32	3	134	3	WDR5B	3	122133514	Missense_Mutation	SNP	C	TCGA-13-0912-01A-01W-0421-09	64900569	122133514	75888916	11	5996											
MAP1B	4131	genome.wustl.edu	37	5	71490040	71490040	+	Silent	SNP	C	C	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr5:71490040C>T	ENST00000296755.7	+	5	1156	c.858C>T	c.(856-858)ggC>ggT	p.G286G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	286					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.G286G(3)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCATCAATGGCGGATCAGAGA	0.488																																					Melanoma(17;367 822 11631 31730 47712)											3	Substitution - coding silent(3)	large_intestine(2)|ovary(1)	5											81	86	84					5																	71490040		2203	4300	6503	71525796	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.858C>T	5.37:g.71490040C>T			71525796	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71490040	C	T	71490040	2	4	112	1	0	0	0	0	0	0	0	1	9228	755	27	1		1	MAP1B	5	71490040	Silent	SNP	C	TCGA-13-0912-01A-01W-0421-09		71490040	109425220	12	5997											
PCDHB9	57717	genome.wustl.edu	37	5	140568232	140568232	+	IGR	SNP	C	C	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr5:140568232C>T	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)			TCAATGACAACGCCCCCGCCT	0.587																																																0			5											132	131	131					5																	140568232		2203	4300	6503	140548416	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.140568232C>T			140548416	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.587	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140568232	C	T	140568232	1	4	112	0	1	0	0	0	0	0	0	0	11549	536	19	1		1	PCDHB9	5	140568232	IGR	SNP	C	TCGA-13-0912-01A-01W-0421-09	69078192	140568232	40347028	13	5998											
SH3RF2	153769	genome.wustl.edu	37	5	145442061	145442061	+	Missense_Mutation	SNP	G	G	A	rs142456711	byFrequency	TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr5:145442061G>A	ENST00000511217.1	+	9	2039	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G663R|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	663					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.G663R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCACCTCCGGAAAGCCTGA	0.557																																																1	Substitution - Missense(1)	ovary(1)	5						G	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	100	94	96		1987	3.7	0.6	5	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SH3RF2	NM_152550.3	125	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	663/730	145442061	3,13003	2203	4300	6503	145422254	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1987G>A	5.37:g.145442061G>A	ENSP00000424497:p.Gly663Arg		145422254	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643367	0.47153	4.54E-4	1.16E-4	ENSG00000156463	ENST00000359120;ENST00000511217;ENST00000513503	T;T	0.22945	1.93;1.93	5.5	3.7	0.42460	.	0.475516	0.20472	N	0.091668	T	0.34077	0.0885	L	0.54323	1.7	0.22675	N	0.998864	D;D	0.63880	0.993;0.987	P;P	0.54856	0.762;0.636	T	0.08126	-1.0737	10	0.32370	T	0.25	-7.3513	9.6099	0.39657	0.1632:0.0:0.8368:0.0	.	154;663	Q8TEC5-2;Q8TEC5	.;SH3R2_HUMAN	R	663;663;62	ENSP00000352028:G663R;ENSP00000424497:G663R	ENSP00000352028:G663R	G	+	1	0	SH3RF2	145422254	0.977000	0.34250	0.645000	0.29479	0.315000	0.28087	2.117000	0.41939	1.314000	0.45095	0.313000	0.20887	GGA		0.557	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		A	145442061	G	A	145442061	3	1	112	1	0	0	0	0	1	0	0	0	14262	1117	39	1	2021	1	SH3RF2	5	145442061	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09	4873829	145442061	35473199	14	5999											
KIF4B	285643	genome.wustl.edu	37	5	154395170	154395170	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr5:154395170C>A	ENST00000435029.4	+	1	1911	c.1751C>A	c.(1750-1752)aCa>aAa	p.T584K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	584					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAACTTCAGACAGCAAAGAAG	0.413																																																0			5											84	85	85					5																	154395170		2203	4300	6503	154375363	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1751C>A	5.37:g.154395170C>A	ENSP00000387875:p.Thr584Lys		154375363		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	8.332	0.826788	0.16749	.	.	ENSG00000226650	ENST00000435029	T	0.67698	-0.28	1.48	1.48	0.22813	.	.	.	.	.	T	0.56863	0.2014	L	0.54323	1.7	0.30875	N	0.732084	B	0.24618	0.107	B	0.20184	0.028	T	0.55711	-0.8098	9	0.28530	T	0.3	.	8.8832	0.35387	0.0:1.0:0.0:0.0	.	584	Q2VIQ3	KIF4B_HUMAN	K	584	ENSP00000387875:T584K	ENSP00000387875:T584K	T	+	2	0	KIF4B	154375363	0.996000	0.38824	0.936000	0.37596	0.587000	0.36485	1.481000	0.35476	1.138000	0.42230	0.563000	0.77884	ACA		0.413	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154395170	C	A	154395170	3	1	112	1	0	0	0	0	1	0	0	0	8304	478	17	3	1753	3	KIF4B	5	154395170	Missense_Mutation	SNP	C	TCGA-13-0912-01A-01W-0421-09	8953109	154395170	26520090	15	6000											
FKBP5	2289	genome.wustl.edu	37	6	35604930	35604930	+	Silent	SNP	G	G	C			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr6:35604930G>C	ENST00000539068.1	-	3	313	c.111C>G	c.(109-111)gtC>gtG	p.V37V	FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000542713.1_Silent_p.V37V|FKBP5_ENST00000536438.1_Silent_p.V37V|FKBP5_ENST00000357266.4_Silent_p.V37V	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	37					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.V37V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CCACTCTTTTGACAATCTAGA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	6											78	74	75					6																	35604930		2203	4300	6503	35712908	SO:0001819	synonymous_variant	2289			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.111C>G	6.37:g.35604930G>C			35712908	F5H7R1|Q59EB8|Q5TGM6	Silent	SNP	ENST00000539068.1	37	CCDS4808.1																																																																																				0.378	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			C	35604930	G	C	35604930	2	2	112	1	0	0	0	0	0	0	0	1	5911	1277	45	3		3	FKBP5	6	35604930	Silent	SNP	G	TCGA-13-0912-01A-01W-0421-09		35604930	135510137	16	6001											
CCDC129	223075	genome.wustl.edu	37	7	31617736	31617736	+	Silent	SNP	C	C	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr7:31617736C>T	ENST00000407970.3	+	8	896	c.858C>T	c.(856-858)ccC>ccT	p.P286P	CCDC129_ENST00000451887.2_Silent_p.P312P|CCDC129_ENST00000409210.1_Silent_p.P194P|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	286										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTTTGTTCCCTTTACAAAAC	0.443																																																0			7											56	58	57					7																	31617736		2200	4300	6500	31584261	SO:0001819	synonymous_variant	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.858C>T	7.37:g.31617736C>T			31584261	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	CCDS5435.2																																																																																				0.443	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		T	31617736	C	T	31617736	2	4	112	1	0	0	0	0	0	0	0	1	2764	668	24	2		2	CCDC129	7	31617736	Silent	SNP	C	TCGA-13-0912-01A-01W-0421-09		31617736	127520927	17	6002											
GNB2	2783	genome.wustl.edu	37	7	100275155	100275155	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr7:100275155T>C	ENST00000303210.4	+	6	784	c.302T>C	c.(301-303)aTg>aCg	p.M101T	GNB2_ENST00000393924.1_Missense_Mutation_p.M101T|GNB2_ENST00000427895.1_Start_Codon_SNP_p.M1T|GNB2_ENST00000419828.1_Start_Codon_SNP_p.M1T|GNB2_ENST00000393926.1_Missense_Mutation_p.M101T|GNB2_ENST00000424361.1_Missense_Mutation_p.M57T|GNB2_ENST00000436220.1_Missense_Mutation_p.M57T	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	101					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.M101T(1)		endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCCTGGGTAATGACCTGTGCC	0.677																																																1	Substitution - Missense(1)	ovary(1)	7											51	54	53					7																	100275155		2202	4300	6502	100113091	SO:0001583	missense	2783			M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"WD repeat domain containing"	4398	protein-coding gene	gene with protein product	"G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2"	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.302T>C	7.37:g.100275155T>C	ENSP00000305260:p.Met101Thr		100113091	B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.071839	0.76301	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000431068;ENST00000412215;ENST00000393924	T;T;T;T;T;T;T;T;T;T	0.60548	0.49;0.49;0.49;0.49;0.18;0.18;0.49;0.49;0.49;0.49	5.17	3.94	0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.046925	0.85682	D	0.000000	T	0.70885	0.3275	M	0.72353	2.195	0.58432	D	0.999997	P	0.45011	0.848	D	0.63283	0.913	T	0.73642	-0.3918	10	0.87932	D	0	-1.6969	9.8732	0.41187	0.0:0.0:0.1718:0.8282	.	101	P62879	GBB2_HUMAN	T	101;101;57;57;1;1;101;101;101;101	ENSP00000305260:M101T;ENSP00000399904:M101T;ENSP00000401873:M57T;ENSP00000389391:M57T;ENSP00000390543:M1T;ENSP00000400286:M1T;ENSP00000377503:M101T;ENSP00000390077:M101T;ENSP00000413219:M101T;ENSP00000377501:M101T	ENSP00000305260:M101T	M	+	2	0	GNB2	100113091	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.094000	0.64523	1.958000	0.56883	0.379000	0.24179	ATG		0.677	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		C	100275155	T	C	100275155	3	2	112	1	0	0	0	0	1	0	0	0	6517	1464	51	4	320	4	GNB2	7	100275155	Missense_Mutation	SNP	T	TCGA-13-0912-01A-01W-0421-09	68657419	100275155	58863508	18	6003											
NUP205	23165	genome.wustl.edu	37	7	135269658	135269658	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr7:135269658A>T	ENST00000285968.6	+	8	1147	c.1121A>T	c.(1120-1122)gAa>gTa	p.E374V	NUP205_ENST00000440390.2_Missense_Mutation_p.E168V	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	374					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E374V(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTCCTCATGGAATCTGTAGTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											79	71	74					7																	135269658		2203	4300	6503	134920198	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1121A>T	7.37:g.135269658A>T	ENSP00000285968:p.Glu374Val		134920198	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539527	0.85917	.	.	ENSG00000155561	ENST00000285968;ENST00000440390	T;T	0.30714	1.52;1.52	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.56769	1.78	0.80722	D	1	P	0.52692	0.955	P	0.57204	0.815	T	0.43228	-0.9404	10	0.52906	T	0.07	-16.3533	15.6385	0.76977	1.0:0.0:0.0:0.0	.	374	Q92621	NU205_HUMAN	V	374;168	ENSP00000285968:E374V;ENSP00000401983:E168V	ENSP00000285968:E374V	E	+	2	0	NUP205	134920198	1.000000	0.71417	0.676000	0.29932	0.890000	0.51754	9.339000	0.96797	2.089000	0.63090	0.482000	0.46254	GAA		0.393	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			T	135269658	A	T	135269658	3	4	112	1	0	0	0	0	1	0	0	0	10759	246	9	5	1151	5	NUP205	7	135269658	Missense_Mutation	SNP	A	TCGA-13-0912-01A-01W-0421-09	34994503	135269658	23869005	19	6004											
EPHA1	2041	genome.wustl.edu	37	7	143088789	143088789	+	Missense_Mutation	SNP	G	G	C	rs138715519		TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr7:143088789G>C	ENST00000275815.3	-	17	2862	c.2776C>G	c.(2776-2778)Cgc>Ggc	p.R926G	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	926	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R926G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CGTTTCATGCGTATGGACTCG	0.587																																																1	Substitution - Missense(1)	ovary(1)	7											83	61	69					7																	143088789		2203	4300	6503	142798911	SO:0001583	missense	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2776C>G	7.37:g.143088789G>C	ENSP00000275815:p.Arg926Gly		142798911	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847102	0.51164	.	.	ENSG00000146904	ENST00000275815	T	0.36520	1.25	4.67	4.67	0.58626	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.56097	D	0.000026	T	0.31979	0.0814	N	0.02916	-0.46	0.43740	D	0.996232	D	0.63046	0.992	P	0.62298	0.9	T	0.47509	-0.9112	10	0.87932	D	0	.	13.1547	0.59509	0.0:0.0:0.8405:0.1595	.	926	P21709	EPHA1_HUMAN	G	926	ENSP00000275815:R926G	ENSP00000275815:R926G	R	-	1	0	EPHA1	142798911	0.999000	0.42202	0.884000	0.34674	0.438000	0.31896	4.023000	0.57211	2.583000	0.87209	0.561000	0.74099	CGC		0.587	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			C	143088789	G	C	143088789	3	2	112	1	0	0	0	0	1	0	0	0	5165	1145	40	3	162	3	EPHA1	7	143088789	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09	7819131	143088789	16049874	20	6005											
PLIN2	123	genome.wustl.edu	37	9	19116373	19116373	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr9:19116373G>T	ENST00000276914.2	-	8	1366	c.1187C>A	c.(1186-1188)aCg>aAg	p.T396K	PLIN2_ENST00000411567.1_Missense_Mutation_p.T315K	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	396					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T396K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GTTGAGGGGCGTGTTGTTAAC	0.488																																																1	Substitution - Missense(1)	ovary(1)	9											96	89	92					9																	19116373		2203	4300	6503	19106373	SO:0001583	missense	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.1187C>A	9.37:g.19116373G>T	ENSP00000276914:p.Thr396Lys		19106373	Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702553	0.88924	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.07114	3.22;3.22	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.88241	2.94	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.33420	-0.9869	10	0.62326	D	0.03	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	396	Q99541	PLIN2_HUMAN	K	315;396	ENSP00000415270:T315K;ENSP00000276914:T396K	ENSP00000276914:T396K	T	-	2	0	PLIN2	19106373	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	8.030000	0.88816	2.671000	0.90904	0.650000	0.86243	ACG		0.488	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		T	19116373	G	T	19116373	3	4	112	1	0	0	0	0	1	0	0	0	12090	1145	40	3	130	3	PLIN2	9	19116373	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09		19116373	122097058	21	6006											
FAT3	120114	genome.wustl.edu	37	11	92086159	92086159	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr11:92086159C>T	ENST00000298047.6	+	1	898	c.881C>T	c.(880-882)gCg>gTg	p.A294V	FAT3_ENST00000409404.2_Missense_Mutation_p.A294V|FAT3_ENST00000541502.1_Missense_Mutation_p.A294V|FAT3_ENST00000525166.1_Missense_Mutation_p.A144V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	294	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATGATGGAGCGAATGGAGAG	0.438										TCGA Ovarian(4;0.039)																																						0			11											137	128	131					11																	92086159		2030	4202	6232	91725807	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.881C>T	11.37:g.92086159C>T	ENSP00000298047:p.Ala294Val		91725807	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	10.46	1.357007	0.24598	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.2	5.2	0.72013	.	.	.	.	.	T	0.45558	0.1348	N	0.21282	0.65	0.32586	N	0.527824	B	0.26120	0.142	B	0.18561	0.022	T	0.50039	-0.8874	9	0.28530	T	0.3	.	18.075	0.89424	0.0:1.0:0.0:0.0	.	294	Q8TDW7-3	.	V	294;294;294;144	ENSP00000298047:A294V;ENSP00000387040:A294V;ENSP00000443786:A294V;ENSP00000432586:A144V	ENSP00000298047:A294V	A	+	2	0	FAT3	91725807	0.729000	0.28090	1.000000	0.80357	0.577000	0.36160	3.634000	0.54302	2.568000	0.86640	0.557000	0.71058	GCG		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92086159	C	T	92086159	3	4	112	1	0	0	0	0	1	0	0	0	5691	768	27	1	883	1	FAT3	11	92086159	Missense_Mutation	SNP	C	TCGA-13-0912-01A-01W-0421-09		92086159	42920357	22	6007											
MLL	4297	genome.wustl.edu	37	11	118373604	118373604	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr11:118373604A>G	ENST00000389506.5	+	27	6988	c.6988A>G	c.(6988-6990)Aaa>Gaa	p.K2330E	KMT2A_ENST00000534358.1_Missense_Mutation_p.K2333E|KMT2A_ENST00000354520.4_Missense_Mutation_p.K2292E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2330					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.K2330E(1)									TGGAATTCCTAAACTGGCCCC	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											121	126	124					11																	118373604		2200	4296	6496	117878814	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6988A>G	11.37:g.118373604A>G	ENSP00000374157:p.Lys2330Glu		117878814	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064028	0.55432	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83837	-1.76;-1.77;-1.72	5.19	5.19	0.71726	.	0.404263	0.30085	N	0.010447	T	0.71230	0.3315	N	0.19112	0.55	0.49213	D	0.99976	P;P	0.40970	0.734;0.734	B;B	0.35114	0.196;0.196	T	0.74057	-0.3787	10	0.40728	T	0.16	.	15.2143	0.73250	1.0:0.0:0.0:0.0	.	2333;2330	E9PQG7;Q03164	.;MLL1_HUMAN	E	2333;2330;2292;1240	ENSP00000436786:K2333E;ENSP00000374157:K2330E;ENSP00000346516:K2292E	ENSP00000346516:K2292E	K	+	1	0	MLL	117878814	1.000000	0.71417	0.932000	0.37286	0.968000	0.65278	6.211000	0.72182	2.179000	0.69175	0.460000	0.39030	AAA		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		G	118373604	A	G	118373604	3	3	112	1	0	0	0	0	1	0	0	0	9620	363	13	4	7094	4	MLL	11	118373604	Missense_Mutation	SNP	A	TCGA-13-0912-01A-01W-0421-09	26287445	118373604	16632912	23	6008											
NR1H4	9971	genome.wustl.edu	37	12	100930769	100930769	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr12:100930769C>T	ENST00000551379.1	+	6	933	c.905C>T	c.(904-906)aCg>aTg	p.T302M	NR1H4_ENST00000188403.7_Missense_Mutation_p.T298M|NR1H4_ENST00000549996.1_Missense_Mutation_p.T241M|NR1H4_ENST00000548884.1_Missense_Mutation_p.T288M|NR1H4_ENST00000392986.3_Missense_Mutation_p.T292M			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	302	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T288M(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	CTCATTTTGACGGAAATGGCA	0.244																																																1	Substitution - Missense(1)	ovary(1)	12											68	81	77					12																	100930769		2191	4281	6472	99454900	SO:0001583	missense	9971			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.905C>T	12.37:g.100930769C>T	ENSP00000447149:p.Thr302Met		99454900	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309455	0.81247	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.048169	0.85682	D	0.000000	D	0.97595	0.9212	M	0.76433	2.335	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.918;1.0;1.0;0.986	D	0.98239	1.0487	10	0.87932	D	0	.	19.0423	0.93006	0.0:1.0:0.0:0.0	.	241;302;298;292;288	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	M	288;292;241;302;298	ENSP00000448506:T288M;ENSP00000376712:T292M;ENSP00000448978:T241M;ENSP00000447149:T302M;ENSP00000188403:T298M	ENSP00000188403:T298M	T	+	2	0	NR1H4	99454900	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	7.410000	0.80065	2.555000	0.86185	0.585000	0.79938	ACG		0.244	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		T	100930769	C	T	100930769	3	4	112	1	0	0	0	0	1	0	0	0	10619	536	19	1	885	1	NR1H4	12	100930769	Missense_Mutation	SNP	C	TCGA-13-0912-01A-01W-0421-09		100930769	32921126	24	6009											
ACIN1	22985	genome.wustl.edu	37	14	23549748	23549748	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr14:23549748G>C	ENST00000262710.1	-	6	1297	c.970C>G	c.(970-972)Ccc>Gcc	p.P324A	ACIN1_ENST00000605057.1_Missense_Mutation_p.P266A|ACIN1_ENST00000457657.1_Missense_Mutation_p.P284A|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.P324A	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	324	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P324A(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTTGTTTTGGGTCTCTCATCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	14											254	213	227					14																	23549748		2203	4300	6503	22619588	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.970C>G	14.37:g.23549748G>C	ENSP00000262710:p.Pro324Ala		22619588	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	9.953	1.220761	0.22457	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.28255	2.18;1.62;2.18	4.81	0.669	0.17918	.	0.782162	0.10898	N	0.621914	T	0.16854	0.0405	N	0.24115	0.695	0.09310	N	1	B;B;B	0.27068	0.167;0.104;0.104	B;B;B	0.31101	0.124;0.058;0.058	T	0.34502	-0.9826	10	0.15066	T	0.55	1.4267	3.9613	0.09412	0.278:0.0:0.5582:0.1639	.	324;324;284	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	A	324;284;324	ENSP00000262710:P324A;ENSP00000405677:P284A;ENSP00000451328:P324A	ENSP00000262710:P324A	P	-	1	0	ACIN1	22619588	0.661000	0.27430	0.386000	0.26170	0.980000	0.70556	-0.126000	0.10563	0.243000	0.21327	0.650000	0.86243	CCC		0.468	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		C	23549748	G	C	23549748	3	2	112	1	0	0	0	0	1	0	0	0	142	1261	44	3	3258	3	ACIN1	14	23549748	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09		23549748	83799792	25	6010											
SNX33	257364	genome.wustl.edu	37	15	75942730	75942730	+	Silent	SNP	G	G	A			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr15:75942730G>A	ENST00000308527.5	+	1	2484	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	429	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.Q429Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ATTCCTTCCAGATGGACCCCC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	15											119	106	110					15																	75942730		2197	4294	6491	73729785	SO:0001819	synonymous_variant	257364			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1287G>A	15.37:g.75942730G>A			73729785	B1NM17	Silent	SNP	ENST00000308527.5	37	CCDS10283.1																																																																																				0.572	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		A	75942730	G	A	75942730	2	1	112	1	0	0	0	0	0	0	0	1	14906	933	33	2		2	SNX33	15	75942730	Silent	SNP	G	TCGA-13-0912-01A-01W-0421-09		75942730	26588662	26	6011											
TP53	7157	genome.wustl.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(29)|p.0?(8)|p.E258fs*71(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)	TGGCTCCTGACCTGGAGTCTT	0.572		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"	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)	17											121	85	97					17																	7577498		2203	4300	6503	7518223	SO:0001630	splice_region_variant	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.782+1G>A	17.37:g.7577498C>T			7518223	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7577498	C	T	7577498	5	4	112	1	0	0	0	0	0	0	1	0	16381	521	18	2	507	2	TP53	17	7577498	Splice_Site	SNP	C	TCGA-13-0912-01A-01W-0421-09		7577498	73617712	27	6012											
LLGL2	3993	genome.wustl.edu	37	17	73560554	73560568	+	In_Frame_Del	DEL	CTTCACTGTCCTCAC	CTTCACTGTCCTCAC	-			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	CTTCACTGTCCTCAC	CTTCACTGTCCTCAC	CTTCACTGTCCTCAC	-	CTTCACTGTCCTCAC	CTTCACTGTCCTCAC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr17:73560554_73560568delCTTCACTGTCCTCAC	ENST00000392550.3	+	10	1119_1133	c.1002_1016delCTTCACTGTCCTCAC	c.(1000-1017)ggcttcactgtcctcaca>gga	p.FTVLT335del	LLGL2_ENST00000375227.4_In_Frame_Del_p.FTVLT335del|LLGL2_ENST00000578363.1_In_Frame_Del_p.FTVLT335del|LLGL2_ENST00000577200.1_In_Frame_Del_p.FTVLT335del|LLGL2_ENST00000167462.5_In_Frame_Del_p.FTVLT335del	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	335					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.F335_T339del(1)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTGTCATCGGCTTCACTGTCCTCACAGAGGCAGAC	0.633																																																1	Deletion - In frame(1)	ovary(1)	17																																								71072163	SO:0001651	inframe_deletion	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1002_1016delCTTCACTGTCCTCAC	17.37:g.73560554_73560568delCTTCACTGTCCTCAC	ENSP00000376333:p.Phe335_Thr339del		71072149	Q14521|Q9BR62	In_Frame_Del	DEL	ENST00000392550.3	37	CCDS32733.1																																																																																				0.633	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		-	73560568	CTTCACTGTCCTCAC	-	73560554	7	5	112	1	0	1	0	1	0	0	0	0	8834	784	28	0	1036	0	LLGL2	17	73560554	In_Frame_Del	DEL	CTTCACTGTCCTCAC	TCGA-13-0912-01A-01W-0421-09	65983056	73560554	7634656	28	6013											
ANKRD27	84079	genome.wustl.edu	37	19	33122333	33122333	+	Missense_Mutation	SNP	G	G	A	rs201398434		TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr19:33122333G>A	ENST00000306065.4	-	13	1342	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	395					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S395L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTGGGAGACGAAGTCATCTG	0.478																																																1	Substitution - Missense(1)	ovary(1)	19											165	145	152					19																	33122333		2203	4300	6503	37814173	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1184C>T	19.37:g.33122333G>A	ENSP00000304292:p.Ser395Leu		37814173	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236874	0.58886	.	.	ENSG00000105186	ENST00000306065	T	0.62639	0.01	5.38	5.38	0.77491	Ankyrin repeat-containing domain (1);	0.133396	0.34460	N	0.003957	T	0.57710	0.2072	N	0.20986	0.625	0.80722	D	1	D	0.58970	0.984	P	0.47645	0.553	T	0.61874	-0.6973	10	0.51188	T	0.08	-14.012	19.1212	0.93364	0.0:0.0:1.0:0.0	.	395	Q96NW4	ANR27_HUMAN	L	395	ENSP00000304292:S395L	ENSP00000304292:S395L	S	-	2	0	ANKRD27	37814173	0.993000	0.37304	0.245000	0.24217	0.262000	0.26303	6.638000	0.74309	2.504000	0.84457	0.549000	0.68633	TCG		0.478	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		A	33122333	G	A	33122333	3	1	112	1	0	0	0	0	1	0	0	0	655	1059	37	1	2036	1	ANKRD27	19	33122333	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09		33122333	26006650	29	6014											
ZNF813	126017	genome.wustl.edu	37	19	53994554	53994554	+	Silent	SNP	G	G	A			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr19:53994554G>A	ENST00000396403.4	+	4	1196	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AACCTTTCAAGTGTAATGAGT	0.418																																																0			19											153	155	154					19																	53994554		2203	4299	6502	58686366	SO:0001819	synonymous_variant	126017			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1068G>A	19.37:g.53994554G>A			58686366		Silent	SNP	ENST00000396403.4	37	CCDS46172.1																																																																																				0.418	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		A	53994554	G	A	53994554	2	1	112	1	0	0	0	0	0	0	0	1	18175	1020	36	2		2	ZNF813	19	53994554	Silent	SNP	G	TCGA-13-0912-01A-01W-0421-09	20872221	53994554	5134429	30	6015											
SGSM1	129049	genome.wustl.edu	37	22	25240895	25240895	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr22:25240895G>A	ENST00000400359.4	+	3	102	c.95G>A	c.(94-96)cGc>cAc	p.R32H	SGSM1_ENST00000400358.4_Missense_Mutation_p.R32H	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	32						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.R32H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCTGTGACACGCAAGTTTGTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	22											95	103	100					22																	25240895		2190	4299	6489	23570895	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.95G>A	22.37:g.25240895G>A	ENSP00000383212:p.Arg32His		23570895	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	34	5.337568	0.95758	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.11930	2.73;2.73	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.996;0.998;0.991;0.987	T	0.02457	-1.1156	10	0.87932	D	0	-0.5464	18.4285	0.90617	0.0:0.0:1.0:0.0	.	32;7;7;32;7	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	H	7;32;32	ENSP00000383211:R32H;ENSP00000383212:R32H	ENSP00000383211:R32H	R	+	2	0	SGSM1	23570895	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	CGC		0.567	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		A	25240895	G	A	25240895	3	1	112	1	0	0	0	0	1	0	0	0	14225	1087	38	1	105	1	SGSM1	22	25240895	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09		25240895	26063671	31	6016											
MCM5	4174	genome.wustl.edu	37	22	35813848	35813848	+	Splice_Site	SNP	G	G	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr22:35813848G>T	ENST00000216122.4	+	13	1856	c.1702G>T	c.(1702-1704)Gtg>Ttg	p.V568L	MCM5_ENST00000382011.5_Splice_Site_p.V525L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	568					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V568L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTACTGCCGAGTGTGAGTCCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	22											117	77	91					22																	35813848		2203	4300	6503	34143848	SO:0001630	splice_region_variant	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1703+1G>T	22.37:g.35813848G>T			34143848	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	9.750	1.167103	0.21621	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.10960	2.82;2.82	4.72	0.146	0.14833	.	0.474414	0.24150	N	0.041081	T	0.04137	0.0115	N	0.16066	0.365	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.33240	-0.9876	10	0.25751	T	0.34	-12.1046	0.6273	0.00788	0.3328:0.167:0.3293:0.171	.	568;568;525;568	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	L	568;525	ENSP00000216122:V568L;ENSP00000371441:V525L	ENSP00000216122:V568L	V	+	1	0	MCM5	34143848	0.011000	0.17503	0.973000	0.42090	0.963000	0.63663	0.108000	0.15396	0.604000	0.29930	-0.291000	0.09656	GTG		0.597	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		Missense_Mutation	T	35813848	G	T	35813848	5	4	112	1	0	0	0	0	0	0	1	0	9390	1043	36	3	1748	3	MCM5	22	35813848	Splice_Site	SNP	G	TCGA-13-0912-01A-01W-0421-09	10572953	35813848	15490718	32	6017											
TTC38	55020	genome.wustl.edu	37	22	46677513	46677513	+	Silent	SNP	G	G	T			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chr22:46677513G>T	ENST00000381031.3	+	7	709	c.633G>T	c.(631-633)ccG>ccT	p.P211P	TTC38_ENST00000445282.2_Silent_p.P153P	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	211						extracellular vesicular exosome (GO:0070062)		p.P211P(1)		endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CTATTAACCCGACAGACGCAT	0.557																																																1	Substitution - coding silent(1)	ovary(1)	22											113	113	113					22																	46677513		2005	4183	6188	45056177	SO:0001819	synonymous_variant	55020				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"Tetratricopeptide (TTC) repeat domain containing"	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.633G>T	22.37:g.46677513G>T			45056177	Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	CCDS43030.1																																																																																				0.557	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		T	46677513	G	T	46677513	2	4	112	1	0	0	0	0	0	0	0	1	16706	1045	37	3		3	TTC38	22	46677513	Silent	SNP	G	TCGA-13-0912-01A-01W-0421-09	10863665	46677513	4627053	33	6018											
ATP11C	286410	genome.wustl.edu	37	X	138850580	138850580	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0912-01A-01W-0421-09	TCGA-13-0912-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	517f4d7f-c962-414f-8824-f2a7ae19cb6d	7b625804-4443-44a9-a106-b7b910587a34	g.chrX:138850580G>A	ENST00000327569.3	-	20	2337	c.2239C>T	c.(2239-2241)Cat>Tat	p.H747Y	ATP11C_ENST00000370543.1_Missense_Mutation_p.H747Y|ATP11C_ENST00000370557.1_Missense_Mutation_p.H744Y|ATP11C_ENST00000359686.2_Missense_Mutation_p.H747Y|ATP11C_ENST00000361648.2_Missense_Mutation_p.H747Y|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	747					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.H747Y(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TATTCCTGATGTTCTGTCCAT	0.333																																																1	Substitution - Missense(1)	ovary(1)	X											93	79	84					X																	138850580		2203	4300	6503	138678246	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2239C>T	X.37:g.138850580G>A	ENSP00000332756:p.His747Tyr		138678246	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	0.965	-0.702104	0.03255	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.06849	3.25;3.29;3.28;3.28;3.29	5.31	5.31	0.75309	HAD-like domain (1);	0.824253	0.11242	N	0.584568	T	0.07324	0.0185	L	0.39467	1.215	0.30493	N	0.771163	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.30179	-0.9987	10	0.02654	T	1	.	10.8276	0.46643	0.0:0.0:0.6878:0.3122	.	747;747	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	Y	744;747;747;747;747	ENSP00000359588:H744Y;ENSP00000355165:H747Y;ENSP00000332756:H747Y;ENSP00000359574:H747Y;ENSP00000352715:H747Y	ENSP00000332756:H747Y	H	-	1	0	ATP11C	138678246	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.622000	0.54217	2.204000	0.70986	0.544000	0.68410	CAT		0.333	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		A	138850580	G	A	138850580	3	1	112	1	0	0	0	0	1	0	0	0	1121	1377	48	2	1266	2	ATP11C	23	138850580	Missense_Mutation	SNP	G	TCGA-13-0912-01A-01W-0421-09		138850580	16419980	34	6019											
AADACL4	343066	broad.mit.edu	37	1	12726045	12726045	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr1:12726045A>C	ENST00000376221.1	+	4	523	c.523A>C	c.(523-525)Aag>Cag	p.K175Q		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	175						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCACTTCCTGAAGGCCCTGGA	0.577																																																0			1											87	86	86					1																	12726045		2203	4300	6503	12648632	SO:0001583	missense	343066				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.523A>C	1.37:g.12726045A>C	ENSP00000365395:p.Lys175Gln		12648632		Missense_Mutation	SNP	ENST00000376221.1	37	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.864712	0.51482	.	.	ENSG00000204518	ENST00000376221	T	0.59502	0.26	4.23	3.08	0.35506	Alpha/beta hydrolase fold-3 (1);	0.446555	0.22950	N	0.053670	T	0.56601	0.1996	L	0.41906	1.305	0.22081	N	0.999374	D	0.61697	0.99	P	0.62649	0.905	T	0.45381	-0.9265	10	0.12766	T	0.61	-11.5104	5.7169	0.17964	0.5817:0.3297:0.0886:0.0	.	175	Q5VUY2	ADCL4_HUMAN	Q	175	ENSP00000365395:K175Q	ENSP00000365395:K175Q	K	+	1	0	AADACL4	12648632	0.864000	0.29904	0.198000	0.23420	0.008000	0.06430	2.052000	0.41316	0.635000	0.30488	0.533000	0.62120	AAG		0.577	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		C	12726045	A	C	12726045	3	2	113	1	0	0	0	0	1	0	0	0	13	247	9	5	537	5	AADACL4	1	12726045	Missense_Mutation	SNP	A	TCGA-13-0913-01A-01W-0420-08		12726045	236524576	1	6020											
RPE65	6121	broad.mit.edu	37	1	68904683	68904683	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr1:68904683G>C	ENST00000262340.5	-	9	993	c.940C>G	c.(940-942)Cac>Gac	p.H314D		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	314					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.H314D(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GTGTTGATGTGATGGAAGAGG	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											268	262	264					1																	68904683		2203	4300	6503	68677271	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.940C>G	1.37:g.68904683G>C	ENSP00000262340:p.His314Asp		68677271	A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996469	0.74818	.	.	ENSG00000116745	ENST00000262340	D	0.95035	-3.59	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	M	0.91406	3.205	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.97808	1.0249	10	0.51188	T	0.08	-1.7492	18.0217	0.89257	0.0:0.0:1.0:0.0	.	314	Q16518	RPE65_HUMAN	D	314	ENSP00000262340:H314D	ENSP00000262340:H314D	H	-	1	0	RPE65	68677271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.256000	0.74724	0.650000	0.86243	CAC		0.393	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		C	68904683	G	C	68904683	3	2	113	1	0	0	0	0	1	0	0	0	13548	1290	45	3	685	3	RPE65	1	68904683	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	56178638	68904683	180345938	2	6021											
PTGFR	5737	broad.mit.edu	37	1	78958855	78958855	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr1:78958855C>A	ENST00000370757.3	+	2	664	c.427C>A	c.(427-429)Cat>Aat	p.H143N	PTGFR_ENST00000370758.1_Missense_Mutation_p.H143N|PTGFR_ENST00000370756.3_Missense_Mutation_p.H143N	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	143					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.H143N(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ACCAATATTTCATTCTACGAA	0.413																																																2	Substitution - Missense(2)	ovary(2)	1											163	157	159					1																	78958855		2203	4300	6503	78731443	SO:0001583	missense	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.427C>A	1.37:g.78958855C>A	ENSP00000359793:p.His143Asn		78731443	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408424	0.83340	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.37058	1.22;1.22;1.22	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.51647	-0.8679	10	0.62326	D	0.03	-16.2117	20.5471	0.99284	0.0:1.0:0.0:0.0	.	143;143	P43088;P43088-2	PF2R_HUMAN;.	N	143	ENSP00000359794:H143N;ENSP00000359793:H143N;ENSP00000359792:H143N	ENSP00000359792:H143N	H	+	1	0	PTGFR	78731443	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CAT		0.413	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		A	78958855	C	A	78958855	3	1	113	1	0	0	0	0	1	0	0	0	12752	826	29	3	429	3	PTGFR	1	78958855	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08	10054172	78958855	170291766	3	6022											
ODF2L	57489	broad.mit.edu	37	1	86822227	86822227	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr1:86822227G>A	ENST00000359242.3	-	14	1699	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000394731.1_Missense_Mutation_p.T313M|ODF2L_ENST00000294678.2_Missense_Mutation_p.T444M|ODF2L_ENST00000370566.3_Intron|ODF2L_ENST00000317336.7_Missense_Mutation_p.T473M|ODF2L_ENST00000370567.1_Missense_Mutation_p.T444M	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	473						centrosome (GO:0005813)		p.T444M(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCCGCCGCCGTCAAGGAATC	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											76	69	71					1																	86822227		2203	4300	6503	86594815	SO:0001583	missense	57489				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1418C>T	1.37:g.86822227G>A	ENSP00000359600:p.Thr473Met		86594815	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	G	5.900	0.350180	0.11182	.	.	ENSG00000122417	ENST00000441121;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678	T;T;T;T;T;T	0.78595	1.93;-1.16;1.93;1.93;1.93;-1.19	6.16	1.92	0.25849	.	0.610713	0.17247	N	0.181325	T	0.48519	0.1504	L	0.44542	1.39	0.09310	N	0.999999	B;B;B	0.22003	0.041;0.063;0.063	B;B;B	0.14578	0.011;0.009;0.005	T	0.46400	-0.9194	10	0.52906	T	0.07	1.2498	6.8467	0.23992	0.1669:0.0:0.6431:0.19	.	444;444;473	Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;ODF2L_HUMAN	M	444;473;320;473;444;313;444	ENSP00000359600:T473M;ENSP00000433092:T320M;ENSP00000320165:T473M;ENSP00000359598:T444M;ENSP00000378219:T313M;ENSP00000294678:T444M	ENSP00000294678:T444M	T	-	2	0	ODF2L	86594815	0.992000	0.36948	0.393000	0.26258	0.011000	0.07611	1.672000	0.37523	0.488000	0.27723	-0.961000	0.02630	ACG		0.542	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			A	86822227	G	A	86822227	3	1	113	1	0	0	0	0	1	0	0	0	10828	1145	40	1	688	1	ODF2L	1	86822227	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	7863372	86822227	162428394	4	6023											
ABCA4	24	broad.mit.edu	37	1	94522197	94522197	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr1:94522197G>T	ENST00000370225.3	-	15	2428	c.2342C>A	c.(2341-2343)gCc>gAc	p.A781D	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	781					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.A781D(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCTGCCAGGCGAAGCACAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											71	60	63					1																	94522197		2203	4300	6503	94294785	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2342C>A	1.37:g.94522197G>T	ENSP00000359245:p.Ala781Asp		94294785	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.680085	0.88542	.	.	ENSG00000198691	ENST00000370225	T	0.78126	-1.15	5.36	5.36	0.76844	.	0.051999	0.85682	D	0.000000	T	0.78855	0.4349	M	0.88450	2.955	0.80722	D	1	B	0.26120	0.142	B	0.36030	0.216	T	0.81324	-0.0984	10	0.87932	D	0	.	13.2323	0.59951	0.0833:0.0:0.9167:0.0	.	781	P78363	ABCA4_HUMAN	D	781	ENSP00000359245:A781D	ENSP00000359245:A781D	A	-	2	0	ABCA4	94294785	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.011000	0.57124	2.673000	0.90976	0.561000	0.74099	GCC		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94522197	G	T	94522197	3	4	113	1	0	0	0	0	1	0	0	0	34	1203	42	3	4623	3	ABCA4	1	94522197	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	7699970	94522197	154728424	5	6024											
GPR37L1	9283	broad.mit.edu	37	1	202097212	202097220	+	In_Frame_Del	DEL	CAGTCACCT	CAGTCACCT	-			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	CAGTCACCT	CAGTCACCT	-	-	CAGTCACCT	CAGTCACCT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr1:202097212_202097220delCAGTCACCT	ENST00000367282.5	+	2	1080_1088	c.974_982delCAGTCACCT	c.(973-984)acagtcacctgc>agc	p.325_328TVTC>S		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	325					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T325_C328>S(1)|p.T327T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						ATCCTCTTCACAGTCACCTGCCAGCTGGT	0.612																																																2	Complex - deletion inframe(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)	1																																								200363843	SO:0001651	inframe_deletion	9283			AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.974_982delCAGTCACCT	1.37:g.202097212_202097220delCAGTCACCT	ENSP00000356251:p.Thr325_Cys328delinsSer		200363835	B2R7M9|Q5SXP7|Q86VP7	In_Frame_Del	DEL	ENST00000367282.5	37	CCDS1420.1																																																																																				0.612	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		-	202097220	CAGTCACCT	-	202097212	7	5	113	1	0	1	0	1	0	0	0	0	6692	478	17	0	980	0	GPR37L1	1	202097212	In_Frame_Del	DEL	CAGTCACCT	TCGA-13-0913-01A-01W-0420-08	107575015	202097212	47153409	6	6025											
LBR	3930	broad.mit.edu	37	1	225598020	225598020	+	Silent	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr1:225598020G>C	ENST00000338179.2	-	10	1412	c.1287C>G	c.(1285-1287)ctC>ctG	p.L429L	LBR_ENST00000272163.4_Silent_p.L429L|AC092811.1_ENST00000366845.2_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	429					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.L429L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CCACCACATAGAGAAGCTGGA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	1											116	114	115					1																	225598020		2203	4300	6503	223664643	SO:0001819	synonymous_variant	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1287C>G	1.37:g.225598020G>C			223664643	B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	ENST00000338179.2	37	CCDS1545.1																																																																																				0.458	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		C	225598020	G	C	225598020	2	2	113	1	0	0	0	0	0	0	0	1	8652	929	33	3		3	LBR	1	225598020	Silent	SNP	G	TCGA-13-0913-01A-01W-0420-08	23500808	225598020	23652601	7	6026											
ETAA1	54465	broad.mit.edu	37	2	67631703	67631703	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr2:67631703G>C	ENST00000272342.5	+	5	2019	c.1889G>C	c.(1888-1890)aGt>aCt	p.S630T	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	630						cytoplasm (GO:0005737)		p.S630T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGAAAGGACAGTAAGACATCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											109	113	112					2																	67631703		2203	4300	6503	67485207	SO:0001583	missense	54465			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1889G>C	2.37:g.67631703G>C	ENSP00000272342:p.Ser630Thr		67485207	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	8.354	0.831614	0.16820	.	.	ENSG00000143971	ENST00000272342	T	0.20332	2.08	3.91	-0.432	0.12291	.	.	.	.	.	T	0.10895	0.0266	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	B	0.40375	0.327	T	0.24548	-1.0157	9	0.46703	T	0.11	.	9.5624	0.39378	0.5297:0.0:0.4703:0.0	.	630	Q9NY74	ETAA1_HUMAN	T	630	ENSP00000272342:S630T	ENSP00000272342:S630T	S	+	2	0	ETAA1	67485207	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.823000	0.27366	-0.080000	0.12685	-0.150000	0.13652	AGT		0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		C	67631703	G	C	67631703	3	2	113	1	0	0	0	0	1	0	0	0	5267	1029	36	3	1907	3	ETAA1	2	67631703	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08		67631703	175567670	8	6027											
CNGA3	1261	broad.mit.edu	37	2	99013594	99013594	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr2:99013594C>T	ENST00000272602.2	+	7	2000	c.1961C>T	c.(1960-1962)aCc>aTc	p.T654I	CNGA3_ENST00000393504.1_Missense_Mutation_p.T654I|CNGA3_ENST00000436404.2_Missense_Mutation_p.T636I|CNGA3_ENST00000409937.1_Missense_Mutation_p.T658I			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	654					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.T654I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TACAACGCCACCCAGATGAAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	2											40	39	39					2																	99013594		2203	4300	6503	98380026	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1961C>T	2.37:g.99013594C>T	ENSP00000272602:p.Thr654Ile		98380026	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	7.084	0.570866	0.13623	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97642	-4.35;-4.28;-4.35;-4.47	5.42	2.6	0.31112	.	1.043490	0.07409	N	0.892010	D	0.96009	0.8700	M	0.71581	2.175	0.09310	N	1	B;B;B	0.20459	0.032;0.01;0.045	B;B;B	0.17098	0.011;0.011;0.017	D	0.88542	0.3110	10	0.44086	T	0.13	.	11.4059	0.49898	0.13:0.4917:0.3783:0.0	.	658;636;654	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	I	654;636;654;658	ENSP00000377140:T654I;ENSP00000410070:T636I;ENSP00000272602:T654I;ENSP00000386761:T658I	ENSP00000272602:T654I	T	+	2	0	CNGA3	98380026	0.000000	0.05858	0.086000	0.20670	0.998000	0.95712	-0.152000	0.10159	0.387000	0.25024	0.563000	0.77884	ACC		0.612	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		T	99013594	C	T	99013594	3	4	113	1	0	0	0	0	1	0	0	0	3598	507	18	2	1987	2	CNGA3	2	99013594	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08	31381891	99013594	144185779	9	6028											
LYG2	254773	broad.mit.edu	37	2	99861869	99861869	+	Silent	SNP	A	A	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr2:99861869A>C	ENST00000409238.1	-	3	257	c.237T>G	c.(235-237)ccT>ccG	p.P79P	LYG2_ENST00000423800.1_Silent_p.P79P|LYG2_ENST00000409679.1_Silent_p.P79P|LYG2_ENST00000333017.2_Silent_p.P79P			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	79					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.P79P(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GAGTCTGGTAAGGTTTTATGG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	2											103	94	97					2																	99861869		2203	4300	6503	99228301	SO:0001819	synonymous_variant	254773			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.237T>G	2.37:g.99861869A>C			99228301	Q496G2|Q53RW0	Silent	SNP	ENST00000409238.1	37	CCDS2042.1																																																																																				0.502	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		C	99861869	A	C	99861869	2	2	113	1	0	0	0	0	0	0	0	1	9105	59	3	5		5	LYG2	2	99861869	Silent	SNP	A	TCGA-13-0913-01A-01W-0420-08	848275	99861869	143337504	10	6029											
TANC1	85461	broad.mit.edu	37	2	160086189	160086189	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr2:160086189A>T	ENST00000263635.6	+	27	4489	c.4252A>T	c.(4252-4254)Aaa>Taa	p.K1418*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.K1312*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1418					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.K1418*(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGAGGAGTGCAAACAACTCCA	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	2											52	60	57					2																	160086189		2029	4176	6205	159794435	SO:0001587	stop_gained	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4252A>T	2.37:g.160086189A>T	ENSP00000263635:p.Lys1418*		159794435	C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	A	45	11.685874	0.99591	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.92	5.92	0.95590	.	0.046336	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3565	0.83236	1.0:0.0:0.0:0.0	.	.	.	.	X	1312;1418	.	.	K	+	1	0	TANC1	159794435	1.000000	0.71417	0.967000	0.41034	0.933000	0.57130	7.147000	0.77382	2.264000	0.75181	0.533000	0.62120	AAA		0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			T	160086189	A	T	160086189	4	4	113	1	0	0	0	0	0	1	0	0	15544	131	5	5	4355	5	TANC1	2	160086189	Nonsense_Mutation	SNP	A	TCGA-13-0913-01A-01W-0420-08	60224320	160086189	83113184	11	6030											
MYO3B	140469	broad.mit.edu	37	2	171240223	171240252	+	In_Frame_Del	DEL	TCCAGACTTTATCATGGGGTGAAACGCGCC	TCCAGACTTTATCATGGGGTGAAACGCGCC	-	rs551776281|rs10168181|rs201471096|rs11675394	byFrequency	TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	TCCAGACTTTATCATGGGGTGAAACGCGCC	TCCAGACTTTATCATGGGGTGAAACGCGCC	-	-	TCCAGACTTTATCATGGGGTGAAACGCGCC	TCCAGACTTTATCATGGGGTGAAACGCGCC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr2:171240223_171240252delTCCAGACTTTATCATGGGGTGAAACGCGCC	ENST00000408978.4	+	12	1332_1361	c.1189_1218delTCCAGACTTTATCATGGGGTGAAACGCGCC	c.(1189-1218)tccagactttatcatggggtgaaacgcgccdel	p.SRLYHGVKRA397del	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_In_Frame_Del_p.SRLYHGVKRA397del|MYO3B_ENST00000334231.6_In_Frame_Del_p.SRLYHGVKRA406del	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	397	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.R405L(1)|p.S397_A406del(1)|p.R405C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CCTTCAGTTTTCCAGACTTTATCATGGGGTGAAACGCGCCTCCAATCCCC	0.448																																																3	Substitution - Missense(2)|Deletion - In frame(1)	ovary(1)|lung(1)|large_intestine(1)	2																																								170948498	SO:0001651	inframe_deletion	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1189_1218delTCCAGACTTTATCATGGGGTGAAACGCGCC	2.37:g.171240223_171240252delTCCAGACTTTATCATGGGGTGAAACGCGCC	ENSP00000386213:p.Ser397_Ala406del		170948469	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	In_Frame_Del	DEL	ENST00000408978.4	37	CCDS42773.1																																																																																				0.448	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			-	171240252	TCCAGACTTTATCATGGGGTGAAACGCGCC	-	171240223	7	5	113	1	0	1	0	1	0	0	0	0	10077	1783	62	0	1235	0	MYO3B	2	171240223	In_Frame_Del	DEL	TCCAGACTTTATCATGGGGTGAAACGCGCC	TCGA-13-0913-01A-01W-0420-08	11154034	171240223	71959150	12	6031											
DYTN	391475	broad.mit.edu	37	2	207516606	207516606	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr2:207516606G>A	ENST00000452335.2	-	12	1789	c.1673C>T	c.(1672-1674)gCt>gTt	p.A558V	AC010731.4_ENST00000543490.1_lincRNA	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	558						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A558V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CACTCGCTGAGCTCCACTGTA	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											65	69	68					2																	207516606		2024	4199	6223	207224851	SO:0001583	missense	391475			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1673C>T	2.37:g.207516606G>A	ENSP00000396593:p.Ala558Val		207224851		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430472	0.62844	.	.	ENSG00000232125	ENST00000452335	T	0.37752	1.18	5.33	5.33	0.75918	.	.	.	.	.	T	0.49457	0.1558	L	0.29908	0.895	0.33587	D	0.600622	D	0.89917	1.0	D	0.87578	0.998	T	0.59731	-0.7399	9	0.87932	D	0	-5.9583	15.8736	0.79145	0.0:0.0:1.0:0.0	.	558	A2CJ06	DYTN_HUMAN	V	558	ENSP00000396593:A558V	ENSP00000396593:A558V	A	-	2	0	DYTN	207224851	1.000000	0.71417	0.991000	0.47740	0.157000	0.22087	4.650000	0.61440	2.777000	0.95525	0.655000	0.94253	GCT		0.473	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			A	207516606	G	A	207516606	3	1	113	1	0	0	0	0	1	0	0	0	4861	971	34	2	67	2	DYTN	2	207516606	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	36276383	207516606	35682767	13	6032											
WNT7A	7476	broad.mit.edu	37	3	13860896	13860896	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr3:13860896C>G	ENST00000285018.4	-	4	899	c.595G>C	c.(595-597)Gaa>Caa	p.E199Q		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	199					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.E199Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CACTTACATTCCAGCTTCATG	0.622																																																1	Substitution - Missense(1)	ovary(1)	3											100	94	96					3																	13860896		2203	4300	6503	13835897	SO:0001583	missense	7476			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.595G>C	3.37:g.13860896C>G	ENSP00000285018:p.Glu199Gln		13835897	Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	19.56	3.850089	0.71603	.	.	ENSG00000154764	ENST00000285018	T	0.77229	-1.08	4.29	4.29	0.51040	.	0.215829	0.46442	D	0.000294	D	0.83198	0.5202	L	0.59967	1.855	0.80722	D	1	D	0.55385	0.971	P	0.57057	0.812	D	0.84312	0.0511	10	0.46703	T	0.11	.	17.1402	0.86750	0.0:1.0:0.0:0.0	.	199	O00755	WNT7A_HUMAN	Q	199	ENSP00000285018:E199Q	ENSP00000285018:E199Q	E	-	1	0	WNT7A	13835897	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.810000	0.86072	2.121000	0.65114	0.558000	0.71614	GAA		0.622	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		G	13860896	C	G	13860896	3	3	113	1	0	0	0	0	1	0	0	0	17394	864	30	3	458	3	WNT7A	3	13860896	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08		13860896	184161534	14	6033											
CAPN7	23473	broad.mit.edu	37	3	15282118	15282118	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr3:15282118G>C	ENST00000253693.2	+	13	1799	c.1546G>C	c.(1546-1548)Gac>Cac	p.D516H		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	516	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)	p.D516H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TCAGAAAATAGACAACGGTAA	0.284																																																1	Substitution - Missense(1)	ovary(1)	3											42	46	45					3																	15282118		2193	4298	6491	15257122	SO:0001583	missense	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1546G>C	3.37:g.15282118G>C	ENSP00000253693:p.Asp516His		15257122		Missense_Mutation	SNP	ENST00000253693.2	37	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597614	0.87055	.	.	ENSG00000131375	ENST00000253693	T	0.52057	0.68	5.75	5.75	0.90469	Peptidase C2, calpain, catalytic domain (3);	0.046382	0.85682	D	0.000000	T	0.74756	0.3758	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77816	-0.2447	10	0.62326	D	0.03	-18.1049	19.5399	0.95270	0.0:0.0:1.0:0.0	.	516	Q9Y6W3	CAN7_HUMAN	H	516	ENSP00000253693:D516H	ENSP00000253693:D516H	D	+	1	0	CAPN7	15257122	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.861000	0.99562	2.696000	0.92011	0.655000	0.94253	GAC		0.284	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		C	15282118	G	C	15282118	3	2	113	1	0	0	0	0	1	0	0	0	2631	942	33	3	1596	3	CAPN7	3	15282118	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	1421222	15282118	182740312	15	6034											
DNAH1	25981	broad.mit.edu	37	3	52430634	52430634	+	Splice_Site	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr3:52430634G>A	ENST00000420323.2	+	72	11692	c.11431G>A	c.(11431-11433)Gtg>Atg	p.V3811M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3876	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V3811M(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCCCCCAGGTGATGGAGTT	0.612																																																1	Substitution - Missense(1)	ovary(1)	3											59	60	60					3																	52430634		2012	4167	6179	52405674	SO:0001630	splice_region_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11431-1G>A	3.37:g.52430634G>A			52405674	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180908	0.21787	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.08370	3.1	4.49	1.55	0.23275	.	0.829404	0.10511	N	0.666176	T	0.10121	0.0248	L	0.27053	0.805	0.80722	D	1	P;P	0.48016	0.865;0.904	P;B	0.53450	0.726;0.346	T	0.41893	-0.9483	9	.	.	.	.	5.535	0.17005	0.1812:0.1623:0.6565:0.0	.	3811;3876	C9JXH6;Q9P2D7-2	.;.	M	3811;564	ENSP00000401514:V3811M	.	V	+	1	0	DNAH1	52405674	0.312000	0.24545	0.597000	0.28824	0.112000	0.19704	0.548000	0.23314	0.525000	0.28522	0.591000	0.81541	GTG		0.612	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Missense_Mutation	A	52430634	G	A	52430634	5	1	113	1	0	0	0	0	0	0	1	0	4597	1275	44	2	11713	2	DNAH1	3	52430634	Splice_Site	SNP	G	TCGA-13-0913-01A-01W-0420-08	37148516	52430634	145591796	16	6035											
HSPBAP1	79663	broad.mit.edu	37	3	122487638	122487638	+	Silent	SNP	T	T	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr3:122487638T>A	ENST00000306103.2	-	3	485	c.342A>T	c.(340-342)ccA>ccT	p.P114P	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_Silent_p.P114P	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	114	Interaction with HSPB1. {ECO:0000250}.					cytoplasm (GO:0005737)		p.P114P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AATCTCTAAATGGTCCAGAAA	0.383																																																1	Substitution - coding silent(1)	ovary(1)	3											76	74	75					3																	122487638		2203	4300	6503	123970328	SO:0001819	synonymous_variant	79663			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.342A>T	3.37:g.122487638T>A			123970328	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	CCDS3017.1																																																																																				0.383	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		A	122487638	T	A	122487638	2	1	113	1	0	0	0	0	0	0	0	1	7425	1451	51	5		5	HSPBAP1	3	122487638	Silent	SNP	T	TCGA-13-0913-01A-01W-0420-08	70057004	122487638	75534792	17	6036											
C3orf59	151963	broad.mit.edu	37	3	192516350	192516350	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr3:192516350G>C	ENST00000392452.2	-	2	1621	c.1301C>G	c.(1300-1302)aCc>aGc	p.T434S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	434							protein complex binding (GO:0032403)	p.T432S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATGCTGGTGGTGCTACCTCG	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											81	82	82					3																	192516350		2203	4300	6503	193999044	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1301C>G	3.37:g.192516350G>C	ENSP00000376246:p.Thr434Ser		193999044	Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	2.162	-0.391964	0.04932	.	.	ENSG00000180611	ENST00000392452	T	0.41065	1.01	5.27	5.27	0.74061	.	0.214806	0.49305	D	0.000159	T	0.18882	0.0453	N	0.02539	-0.55	0.49483	D	0.999791	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	10	0.05436	T	0.98	.	17.908	0.88925	0.0:0.0:1.0:0.0	.	434	Q8IYB1	M21D2_HUMAN	S	434	ENSP00000376246:T434S	ENSP00000376246:T434S	T	-	2	0	MB21D2	193999044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.462000	0.73526	2.450000	0.82876	0.650000	0.86243	ACC		0.607	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		C	192516350	G	C	192516350	3	2	113	1	0	0	0	0	1	0	0	0	2237	1261	44	3	178	3	C3orf59	3	192516350	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	70028712	192516350	5506080	18	6037											
IL7R	3575	broad.mit.edu	37	5	35861037	35861037	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr5:35861037A>T	ENST00000303115.3	+	2	295	c.166A>T	c.(166-168)Acc>Tcc	p.T56S	IL7R_ENST00000511982.1_Missense_Mutation_p.T56S|IL7R_ENST00000506850.1_Missense_Mutation_p.T56S|IL7R_ENST00000343305.4_Missense_Mutation_p.T56S|IL7R_ENST00000511031.1_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	56					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.T56S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCACTCACTGACCTGTGCTTT	0.458			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	1	Substitution - Missense(1)	ovary(1)	5											219	198	205					5																	35861037		2203	4300	6503	35896794	SO:0001583	missense	3575			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.166A>T	5.37:g.35861037A>T	ENSP00000306157:p.Thr56Ser		35896794	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730347	0.30684	.	.	ENSG00000168685	ENST00000508941;ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.97	4.81	0.61882	.	0.109617	0.64402	N	0.000008	T	0.62539	0.2436	L	0.41236	1.265	0.22489	N	0.999051	B;B	0.29508	0.246;0.123	B;B	0.21151	0.033;0.015	T	0.57625	-0.7779	10	0.59425	D	0.04	-0.766	8.933	0.35682	0.9164:0.0:0.0836:0.0	.	56;56	D6RGV2;P16871	.;IL7RA_HUMAN	S	56	ENSP00000426426:T56S;ENSP00000306157:T56S;ENSP00000345819:T56S;ENSP00000421207:T56S;ENSP00000425309:T56S	ENSP00000306157:T56S	T	+	1	0	IL7R	35896794	0.073000	0.21202	0.334000	0.25495	0.633000	0.38033	1.329000	0.33770	1.083000	0.41159	0.533000	0.62120	ACC		0.458	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			T	35861037	A	T	35861037	3	4	113	1	0	0	0	0	1	0	0	0	7705	275	10	5	172	5	IL7R	5	35861037	Missense_Mutation	SNP	A	TCGA-13-0913-01A-01W-0420-08		35861037	145054223	19	6038											
ERBB2IP	55914	broad.mit.edu	37	5	65317215	65317215	+	Splice_Site	SNP	T	T	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr5:65317215T>A	ENST00000284037.5	+	8	986		c.e8+2		ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000380935.1_Splice_Site|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000508515.1_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein						basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACGGAAGTGGTAAGTTCTCAT	0.318																																																1	Unknown(1)	ovary(1)	5											63	61	61					5																	65317215		2203	4299	6502	65352971	SO:0001630	splice_region_variant	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.597+2T>A	5.37:g.65317215T>A			65352971	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Splice_Site	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524068	0.85600	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2287	0.65877	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2IP	65352971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.348000	0.79366	1.823000	0.53134	0.482000	0.46254	.		0.318	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	Intron	A	65317215	T	A	65317215	5	1	113	1	0	0	0	0	0	0	1	0	5207	1652	57	5	621	5	ERBB2IP	5	65317215	Splice_Site	SNP	T	TCGA-13-0913-01A-01W-0420-08	29456178	65317215	115598045	20	6039											
PJA2	9867	broad.mit.edu	37	5	108717298	108717298	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr5:108717298T>G	ENST00000361189.2	-	3	377	c.138A>C	c.(136-138)aaA>aaC	p.K46N	PJA2_ENST00000361557.3_Missense_Mutation_p.K46N|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	46					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K46N(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCATACATGGTTTAAAACTGA	0.443																																																1	Substitution - Missense(1)	ovary(1)	5											114	105	108					5																	108717298		2202	4300	6502	108745197	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.138A>C	5.37:g.108717298T>G	ENSP00000354775:p.Lys46Asn		108745197	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676655	0.67928	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.13657	2.57;2.57	5.71	2.09	0.27110	.	0.071226	0.56097	D	0.000027	T	0.22166	0.0534	L	0.54323	1.7	0.34899	D	0.74627	D	0.58970	0.984	P	0.55871	0.786	T	0.18808	-1.0325	10	0.87932	D	0	-31.8339	8.1349	0.31048	0.0:0.3012:0.0:0.6988	.	46	O43164	PJA2_HUMAN	N	46	ENSP00000354775:K46N;ENSP00000355284:K46N	ENSP00000354775:K46N	K	-	3	2	PJA2	108745197	0.998000	0.40836	1.000000	0.80357	0.916000	0.54674	0.307000	0.19296	0.134000	0.18681	-0.379000	0.06801	AAA		0.443	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		G	108717298	T	G	108717298	3	3	113	1	0	0	0	0	1	0	0	0	11962	1722	60	5	2020	5	PJA2	5	108717298	Missense_Mutation	SNP	T	TCGA-13-0913-01A-01W-0420-08	43400083	108717298	72197962	21	6040											
PCDHB5	26167	broad.mit.edu	37	5	140515621	140515621	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr5:140515621G>A	ENST00000231134.5	+	1	822	c.605G>A	c.(604-606)cGg>cAg	p.R202Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.R202Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGACCGGGAGGAGCGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	5											71	73	72					5																	140515621		2203	4300	6503	140495805	SO:0001583	missense	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.605G>A	5.37:g.140515621G>A	ENSP00000231134:p.Arg202Gln		140495805	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.393947	0.62066	.	.	ENSG00000113209	ENST00000231134	T	0.59364	0.27	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87305	0.6144	H	0.99435	4.565	0.34853	D	0.741885	D	0.89917	1.0	D	0.78314	0.991	D	0.94964	0.8111	9	0.87932	D	0	.	19.0581	0.93074	0.0:0.0:1.0:0.0	.	202	Q9Y5E4	PCDB5_HUMAN	Q	202	ENSP00000231134:R202Q	ENSP00000231134:R202Q	R	+	2	0	PCDHB5	140495805	0.993000	0.37304	0.998000	0.56505	0.139000	0.21198	6.686000	0.74548	2.581000	0.87130	0.555000	0.69702	CGG		0.547	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		A	140515621	G	A	140515621	3	1	113	1	0	0	0	0	1	0	0	0	11545	1116	39	1	607	1	PCDHB5	5	140515621	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	31798323	140515621	40399639	22	6041											
HTR4	3360	broad.mit.edu	37	5	147889226	147889226	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr5:147889226G>C	ENST00000377888.3	-	6	1007	c.869C>G	c.(868-870)cCt>cGt	p.P290R	HTR4_ENST00000521735.1_Missense_Mutation_p.P290R|HTR4_ENST00000520514.1_Missense_Mutation_p.P290R|HTR4_ENST00000354217.2_Missense_Mutation_p.P290R|HTR4_ENST00000517929.1_Missense_Mutation_p.P290R|HTR4_ENST00000314512.6_Missense_Mutation_p.P290R|HTR4_ENST00000360693.3_Missense_Mutation_p.P290R|HTR4_ENST00000521530.1_Missense_Mutation_p.P290R|HTR4_ENST00000362016.2_Missense_Mutation_p.P304R	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	290					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.P290R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CACCTGCCCAGGGACAGTGTA	0.498																																					GBM(120;370 1604 14007 17804 41573)											1	Substitution - Missense(1)	ovary(1)	5											89	89	89					5																	147889226		2203	4300	6503	147869419	SO:0001583	missense	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.869C>G	5.37:g.147889226G>C	ENSP00000367120:p.Pro290Arg		147869419	C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929595	0.52759	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.996;0.993;0.991;1.0;1.0;1.0	D;D;D;D;D;D;D	0.79784	0.993;0.973;0.954;0.965;0.988;0.992;0.993	T	0.75863	-0.3167	10	0.87932	D	0	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	290;290;290;304;290;290;290	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	R	290;290;290;290;290;290;290;290;304	ENSP00000428320:P290R;ENSP00000346156:P290R;ENSP00000314906:P290R;ENSP00000430979:P290R;ENSP00000435904:P290R;ENSP00000427913:P290R;ENSP00000367120:P290R;ENSP00000353915:P290R;ENSP00000355037:P304R	ENSP00000314906:P290R	P	-	2	0	HTR4	147869419	1.000000	0.71417	0.641000	0.29422	0.023000	0.10783	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CCT		0.498	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		C	147889226	G	C	147889226	3	2	113	1	0	0	0	0	1	0	0	0	7449	1000	35	3	601	3	HTR4	5	147889226	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	7373605	147889226	33026034	23	6042											
BAT2	7916	broad.mit.edu	37	6	31603478	31603478	+	Silent	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr6:31603478C>T	ENST00000376033.2	+	24	5727	c.5493C>T	c.(5491-5493)cgC>cgT	p.R1831R	PRRC2A_ENST00000376007.4_Silent_p.R1831R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1831						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1831R(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGGCCAGCGCCTGTATCCTG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	6											35	36	35					6																	31603478		1510	2709	4219	31711457	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5493C>T	6.37:g.31603478C>T			31711457	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																				0.557	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		T	31603478	C	T	31603478	2	4	113	1	0	0	0	0	0	0	0	1	1319	726	26	2		2	BAT2	6	31603478	Silent	SNP	C	TCGA-13-0913-01A-01W-0420-08		31603478	139511589	24	6043											
ASCC3	10973	broad.mit.edu	37	6	101248260	101248260	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr6:101248260G>A	ENST00000369162.2	-	6	1387	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	ASCC3_ENST00000522650.1_Missense_Mutation_p.A348V	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	348					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.A348V(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTCTCGTCTGGCAATTCTTTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											161	150	153					6																	101248260		2203	4299	6502	101354981	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1043C>T	6.37:g.101248260G>A	ENSP00000358159:p.Ala348Val		101354981	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425331	0.62733	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.53857	0.6;0.6	5.51	5.51	0.81932	.	0.197155	0.44483	D	0.000459	T	0.46210	0.1381	L	0.60455	1.87	0.80722	D	1	B;P	0.51351	0.325;0.944	B;P	0.45310	0.041;0.476	T	0.39901	-0.9591	10	0.33141	T	0.24	.	19.4189	0.94712	0.0:0.0:1.0:0.0	.	348;348	E7EW23;Q8N3C0	.;HELC1_HUMAN	V	348	ENSP00000358159:A348V;ENSP00000430769:A348V	ENSP00000358159:A348V	A	-	2	0	ASCC3	101354981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.750000	0.55157	2.587000	0.87381	0.561000	0.74099	GCC		0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		A	101248260	G	A	101248260	3	1	113	1	0	0	0	0	1	0	0	0	1033	1203	42	2	5713	2	ASCC3	6	101248260	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	69644782	101248260	69866807	25	6044											
KIAA1919	91749	broad.mit.edu	37	6	111585078	111585078	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr6:111585078T>A	ENST00000368847.4	+	3	595	c.242T>A	c.(241-243)tTt>tAt	p.F81Y		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	81					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.F81Y(1)		large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTTGTTCCTTTTTGCAAGACA	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											229	214	219					6																	111585078		2203	4300	6503	111691771	SO:0001583	missense	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.242T>A	6.37:g.111585078T>A	ENSP00000357840:p.Phe81Tyr		111691771	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108872	0.77096	.	.	ENSG00000173214	ENST00000368847	T	0.62941	-0.01	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.197275	0.56097	D	0.000032	T	0.53802	0.1819	M	0.76574	2.34	0.50313	D	0.999861	B	0.33448	0.412	B	0.39465	0.3	T	0.59150	-0.7508	10	0.38643	T	0.18	-15.8649	11.6057	0.51031	0.0:0.0:0.2665:0.7335	.	81	Q5TF39	NAGT1_HUMAN	Y	81	ENSP00000357840:F81Y	ENSP00000357840:F81Y	F	+	2	0	KIAA1919	111691771	1.000000	0.71417	0.977000	0.42913	0.762000	0.43233	3.698000	0.54771	2.217000	0.71921	0.379000	0.24179	TTT		0.408	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		A	111585078	T	A	111585078	3	1	113	1	0	0	0	0	1	0	0	0	8262	1841	64	5	252	5	KIAA1919	6	111585078	Missense_Mutation	SNP	T	TCGA-13-0913-01A-01W-0420-08	10336818	111585078	59529989	26	6045											
FSCN1	6624	broad.mit.edu	37	7	5643564	5643564	+	Silent	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr7:5643564C>T	ENST00000382361.3	+	4	1296	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	FSCN1_ENST00000340250.6_Silent_p.F373F	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	394					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)	p.F394F(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		AGCATGGCTTCATCGGCTGCC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	7											63	60	61					7																	5643564		2203	4300	6503	5610090	SO:0001819	synonymous_variant	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1182C>T	7.37:g.5643564C>T			5610090	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	ENST00000382361.3	37	CCDS5342.1																																																																																				0.597	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		T	5643564	C	T	5643564	2	4	113	1	0	0	0	0	0	0	0	1	6067	825	29	2		2	FSCN1	7	5643564	Silent	SNP	C	TCGA-13-0913-01A-01W-0420-08		5643564	153495099	27	6046											
DLX6	1750	broad.mit.edu	37	7	96637053	96637053	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr7:96637053G>T	ENST00000518156.2	+	2	970	c.540G>T	c.(538-540)caG>caT	p.Q180H	DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.Q52H|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.Q152H			P56179	DLX6_HUMAN	distal-less homeobox 6	62					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q152H(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGCAGCTCCAGGCTTTAAACC	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											46	46	46					7																	96637053		1862	4104	5966	96474989	SO:0001583	missense	1750				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.540G>T	7.37:g.96637053G>T	ENSP00000428480:p.Gln180His		96474989	A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188756	0.78789	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.96396	-4.0;-4.0;-4.0	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96131	0.8739	L	0.41710	1.295	0.80722	D	1	P	0.50710	0.938	P	0.56700	0.804	D	0.94141	0.7397	10	0.15952	T	0.53	-14.5324	19.6519	0.95819	0.0:0.0:1.0:0.0	.	152	P56179-2	.	H	180;152;52	ENSP00000428480:Q180H;ENSP00000007660:Q152H;ENSP00000451635:Q52H	ENSP00000007660:Q152H	Q	+	3	2	DLX6	96474989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.148000	0.50647	2.639000	0.89480	0.561000	0.74099	CAG		0.473	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		T	96637053	G	T	96637053	3	4	113	1	0	0	0	0	1	0	0	0	4575	991	35	3	546	3	DLX6	7	96637053	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	90993489	96637053	62501610	28	6047											
TRPV5	56302	broad.mit.edu	37	7	142622682	142622682	+	Missense_Mutation	SNP	C	C	A	rs200067461		TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr7:142622682C>A	ENST00000265310.1	-	8	1412	c.1064G>T	c.(1063-1065)cGt>cTt	p.R355L	TRPV5_ENST00000442623.1_Missense_Mutation_p.R355L	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	355					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R355L(1)|p.R355H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTTGCCACCACGAAACTTAAG	0.517																																																2	Substitution - Missense(2)	ovary(1)|central_nervous_system(1)	7											122	106	112					7																	142622682		2203	4300	6503	142332804	SO:0001583	missense	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1064G>T	7.37:g.142622682C>A	ENSP00000265310:p.Arg355Leu		142332804	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824419	0.50739	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	D;D;D	0.84442	-1.85;-1.85;-1.85	5.18	5.18	0.71444	.	0.202656	0.43747	D	0.000525	D	0.82660	0.5085	L	0.58669	1.825	0.09310	N	1	B;B	0.31174	0.007;0.311	B;B	0.28305	0.027;0.088	T	0.72070	-0.4401	10	0.27082	T	0.32	-18.3936	18.0624	0.89381	0.0:1.0:0.0:0.0	.	355;355	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	L	355;300;355	ENSP00000265310:R355L;ENSP00000406361:R300L;ENSP00000406572:R355L	ENSP00000265310:R355L	R	-	2	0	TRPV5	142332804	0.482000	0.25948	0.012000	0.15200	0.875000	0.50365	2.793000	0.47845	2.575000	0.86900	0.655000	0.94253	CGT		0.517	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		A	142622682	C	A	142622682	3	1	113	1	0	0	0	0	1	0	0	0	16599	536	19	3	1157	3	TRPV5	7	142622682	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08	45985629	142622682	16515981	29	6048											
WDR60	55112	broad.mit.edu	37	7	158672600	158672600	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr7:158672600T>G	ENST00000407559.3	+	5	957	c.799T>G	c.(799-801)Ttt>Gtt	p.F267V		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	267					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.F267V(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGGTTTTCATTTTGATGATGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	7											77	80	79					7																	158672600		1876	4092	5968	158365361	SO:0001583	missense	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.799T>G	7.37:g.158672600T>G	ENSP00000384290:p.Phe267Val		158365361	Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	T	6.611	0.481149	0.12581	.	.	ENSG00000126870	ENST00000407559	T	0.20463	2.07	4.73	-8.46	0.00942	.	1.456230	0.03783	N	0.261710	T	0.10551	0.0258	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20107	-1.0285	10	0.20519	T	0.43	1.8336	9.9266	0.41496	0.0:0.1545:0.6253:0.2202	.	267	Q8WVS4	WDR60_HUMAN	V	267	ENSP00000384290:F267V	ENSP00000384290:F267V	F	+	1	0	WDR60	158365361	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.437000	0.02419	-1.796000	0.01253	-0.331000	0.08364	TTT		0.403	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		G	158672600	T	G	158672600	3	3	113	1	0	0	0	0	1	0	0	0	17311	1841	64	5	817	5	WDR60	7	158672600	Missense_Mutation	SNP	T	TCGA-13-0913-01A-01W-0420-08	16049918	158672600	466063	30	6049											
DCAF4L2	138009	broad.mit.edu	37	8	88886199	88886204	+	Start_Codon_Del	DEL	TTTCGT	TTTCGT	-	rs368234415		TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	TTTCGT	TTTCGT	-	-	TTTCGT	TTTCGT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr8:88886199_88886204delTTTCGT	ENST00000319675.3	-	0	92_97					NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2											breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTGCTCTCCATTTCGTTCGGCGGATG	0.529																																																0			8																																								88955320	SO:0001582	initiator_codon_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75			8.37:g.88886199_88886204delTTTCGT			88955315		Translation_Start_Site	DEL	ENST00000319675.3	37	CCDS6245.1																																																																																				0.529	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		-	88886204	TTTCGT	-	88886199	7	5	113	1	0	1	0	1	0	0	0	0	4272	1493	52	0	1190	0	DCAF4L2	8	88886199	Start_Codon_Del	DEL	TTTCGT	TCGA-13-0913-01A-01W-0420-08		88886199	57477823	31	6050											
ADAMTSL1	92949	broad.mit.edu	37	9	18776831	18776831	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr9:18776831G>T	ENST00000380548.4	+	19	2943	c.2604G>T	c.(2602-2604)aaG>aaT	p.K868N		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	868	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K868N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCGCCAGGAAGGTCTACATAC	0.672																																																1	Substitution - Missense(1)	ovary(1)	9											10	13	12					9																	18776831		2000	4155	6155	18766831	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2604G>T	9.37:g.18776831G>T	ENSP00000369921:p.Lys868Asn		18766831	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086047	0.36855	.	.	ENSG00000178031	ENST00000380548	T	0.63417	-0.04	5.27	3.42	0.39159	Immunoglobulin-like (1);	0.280398	0.14377	U	0.323404	T	0.33177	0.0854	N	0.04508	-0.205	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.14035	-1.0487	10	0.25751	T	0.34	.	3.5474	0.07834	0.2676:0.3189:0.4135:0.0	.	868	Q8N6G6	ATL1_HUMAN	N	868	ENSP00000369921:K868N	ENSP00000369921:K868N	K	+	3	2	ADAMTSL1	18766831	0.441000	0.25626	0.046000	0.18839	0.002000	0.02628	0.272000	0.18644	1.207000	0.43291	0.563000	0.77884	AAG		0.672	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			T	18776831	G	T	18776831	3	4	113	1	0	0	0	0	1	0	0	0	274	991	35	3	2682	3	ADAMTSL1	9	18776831	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08		18776831	122436600	32	6051											
COL5A1	1289	broad.mit.edu	37	9	137659191	137659191	+	Silent	SNP	A	A	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr9:137659191A>T	ENST00000371817.3	+	24	2637	c.2223A>T	c.(2221-2223)ccA>ccT	p.P741P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	741	Triple-helical region.			P -> L (in Ref. 4; AA sequence). {ECO:0000305}.	axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P741P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTGGTCCTCCAGGAGAAAAGG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	9											69	71	70					9																	137659191		2203	4300	6503	136799012	SO:0001819	synonymous_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2223A>T	9.37:g.137659191A>T			136799012	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137659191	A	T	137659191	2	4	113	1	0	0	0	0	0	0	0	1	3696	175	7	5		5	COL5A1	9	137659191	Silent	SNP	A	TCGA-13-0913-01A-01W-0420-08	118882360	137659191	3554240	33	6052											
PRKCQ	5588	broad.mit.edu	37	10	6525538	6525556	+	Frame_Shift_Del	DEL	GACTCCCAGGAAATGCCCT	GACTCCCAGGAAATGCCCT	-			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	GACTCCCAGGAAATGCCCT	GACTCCCAGGAAATGCCCT	-	-	GACTCCCAGGAAATGCCCT	GACTCCCAGGAAATGCCCT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr10:6525538_6525556delGACTCCCAGGAAATGCCCT	ENST00000263125.5	-	11	1124_1142	c.1025_1043delAGGGCATTTCCTGGGAGTC	c.(1024-1044)cagggcatttcctgggagtctfs	p.QGISWES342fs	PRKCQ_ENST00000397176.2_Frame_Shift_Del_p.QGISWES342fs|PRKCQ_ENST00000539722.1_Frame_Shift_Del_p.QGISWES217fs	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	342					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.Q342R(1)|p.E347K(1)|p.Q342fs*17(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ATCCAACGGAGACTCCCAGGAAATGCCCTGAGGCTCTGA	0.42																																					Ovarian(50;572 1126 10530 25349 30594)											3	Substitution - Missense(2)|Deletion - Frameshift(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	10																																								6565562	SO:0001589	frameshift_variant	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1025_1043delAGGGCATTTCCTGGGAGTC	10.37:g.6525538_6525556delGACTCCCAGGAAATGCCCT	ENSP00000263125:p.Gln342fs		6565544	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Frame_Shift_Del	DEL	ENST00000263125.5	37	CCDS7079.1																																																																																				0.42	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		-	6525556	GACTCCCAGGAAATGCCCT	-	6525538	7	5	113	1	0	1	0	1	0	0	0	0	12518	942	33	0	1109	0	PRKCQ	10	6525538	Frame_Shift_Del	DEL	GACTCCCAGGAAATGCCCT	TCGA-13-0913-01A-01W-0420-08		6525538	129009209	34	6053											
CUBN	8029	broad.mit.edu	37	10	17142218	17142218	+	Silent	SNP	A	A	G			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr10:17142218A>G	ENST00000377833.4	-	14	1616	c.1551T>C	c.(1549-1551)acT>acC	p.T517T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	517	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.T517T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCGGAAAAAAGTGAAAGTGA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	10											65	66	66					10																	17142218		2203	4299	6502	17182224	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1551T>C	10.37:g.17142218A>G			17182224	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17142218	A	G	17142218	2	3	113	1	0	0	0	0	0	0	0	1	4051	59	3	4		4	CUBN	10	17142218	Silent	SNP	A	TCGA-13-0913-01A-01W-0420-08	10616680	17142218	118392529	35	6054											
MYPN	84665	broad.mit.edu	37	10	69955245	69955245	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr10:69955245T>G	ENST00000358913.5	+	15	3602	c.3114T>G	c.(3112-3114)agT>agG	p.S1038R	MYPN_ENST00000540630.1_Missense_Mutation_p.S1038R|MYPN_ENST00000354393.2_Missense_Mutation_p.S763R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1038	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.S1038R(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGGTACAAAGTTTGCCCATTC	0.448																																																1	Substitution - Missense(1)	ovary(1)	10											105	100	102					10																	69955245		2203	4300	6503	69625251	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3114T>G	10.37:g.69955245T>G	ENSP00000351790:p.Ser1038Arg		69625251	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608238	0.46527	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.41758	0.99;0.99;0.99	5.45	5.45	0.79879	.	0.378995	0.30473	N	0.009554	T	0.31420	0.0796	L	0.40543	1.245	0.34361	D	0.691	P;P;B	0.36909	0.573;0.573;0.357	B;B;B	0.32289	0.143;0.143;0.122	T	0.47736	-0.9094	9	.	.	.	.	11.7531	0.51859	0.0:0.0714:0.0:0.9286	.	1038;763;1038	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	R	763;763;1038;1038	ENSP00000346369:S763R;ENSP00000351790:S1038R;ENSP00000441668:S1038R	.	S	+	3	2	MYPN	69625251	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	2.130000	0.42064	2.197000	0.70478	0.533000	0.62120	AGT		0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		G	69955245	T	G	69955245	3	3	113	1	0	0	0	0	1	0	0	0	10098	1722	60	5	3168	5	MYPN	10	69955245	Missense_Mutation	SNP	T	TCGA-13-0913-01A-01W-0420-08	52813027	69955245	65579502	36	6055											
PACS1	55690	broad.mit.edu	37	11	65838133	65838133	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr11:65838133C>G	ENST00000320580.4	+	1	209	c.176C>G	c.(175-177)tCc>tGc	p.S59C	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	59	Ser-rich.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.S59C(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCGTCCTCGTCCACCTCGGCG	0.766																																																1	Substitution - Missense(1)	ovary(1)	11											8	9	9					11																	65838133		2139	4194	6333	65594709	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.176C>G	11.37:g.65838133C>G	ENSP00000316454:p.Ser59Cys		65594709	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330211	0.41297	.	.	ENSG00000175115	ENST00000320580	T	0.22539	1.95	2.86	2.86	0.33363	.	.	.	.	.	T	0.12433	0.0302	N	0.08118	0	0.80722	D	1	P;D	0.53885	0.842;0.963	B;P	0.45310	0.184;0.476	T	0.07309	-1.0779	9	0.59425	D	0.04	-1.859	9.3115	0.37908	0.0:1.0:0.0:0.0	.	59;59	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	C	59	ENSP00000316454:S59C	ENSP00000316454:S59C	S	+	2	0	PACS1	65594709	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	1.439000	0.35013	1.621000	0.50320	0.195000	0.17529	TCC		0.766	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		G	65838133	C	G	65838133	3	3	113	1	0	0	0	0	1	0	0	0	11372	855	30	3	178	3	PACS1	11	65838133	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08		65838133	69168383	37	6056											
SERPINH1	871	broad.mit.edu	37	11	75277634	75277634	+	Silent	SNP	C	C	G	rs367576479		TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr11:75277634C>G	ENST00000524558.1	+	2	1675	c.240C>G	c.(238-240)ctC>ctG	p.L80L	SERPINH1_ENST00000533603.1_Silent_p.L80L|SERPINH1_ENST00000358171.3_Silent_p.L80L|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000530284.1_Silent_p.L80L			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	80					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L80L(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CGCTAGGGCTCGTGTCGCTGG	0.706																																																1	Substitution - coding silent(1)	ovary(1)	11											42	31	35					11																	75277634		2198	4292	6490	74955282	SO:0001819	synonymous_variant	871			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.240C>G	11.37:g.75277634C>G			74955282	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	CCDS8239.1																																																																																				0.706	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		G	75277634	C	G	75277634	2	3	113	1	0	0	0	0	0	0	0	1	14120	871	31	3		3	SERPINH1	11	75277634	Silent	SNP	C	TCGA-13-0913-01A-01W-0420-08	9439501	75277634	59728882	38	6057											
FAT3	120114	broad.mit.edu	37	11	92086995	92086995	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr11:92086995G>A	ENST00000298047.6	+	1	1734	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	FAT3_ENST00000525166.1_Missense_Mutation_p.D423N|FAT3_ENST00000409404.2_Missense_Mutation_p.D573N|FAT3_ENST00000541502.1_Missense_Mutation_p.D573N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	573	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGTCAACGACAACAGCCC	0.448										TCGA Ovarian(4;0.039)																																						0			11											66	70	69					11																	92086995		1883	4119	6002	91726643	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1717G>A	11.37:g.92086995G>A	ENSP00000298047:p.Asp573Asn		91726643	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.413659	0.83449	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.93	5.93	0.95920	.	.	.	.	.	D	0.84777	0.5547	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86737	0.1952	9	0.56958	D	0.05	.	19.3377	0.94326	0.0:0.0:1.0:0.0	.	573	Q8TDW7-3	.	N	573;573;573;423	ENSP00000298047:D573N;ENSP00000387040:D573N;ENSP00000443786:D573N;ENSP00000432586:D423N	ENSP00000298047:D573N	D	+	1	0	FAT3	91726643	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.787000	0.99055	2.814000	0.96858	0.591000	0.81541	GAC		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92086995	G	A	92086995	3	1	113	1	0	0	0	0	1	0	0	0	5691	1058	37	1	1719	1	FAT3	11	92086995	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	16809361	92086995	42919521	39	6058											
OR6X1	390260	broad.mit.edu	37	11	123625130	123625130	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	-	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr11:123625130delA	ENST00000327930.2	-	1	123	c.97delT	c.(97-99)tacfs	p.Y33fs		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTTAATATGTAGGTGAGAAAG	0.428																																																0			11											99	95	96					11																	123625130		2202	4299	6501	123130340	SO:0001589	frameshift_variant	390260			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.97delT	11.37:g.123625130delA	ENSP00000333724:p.Tyr33fs		123130340	B9EGW9|Q6IFA0	Frame_Shift_Del	DEL	ENST00000327930.2	37	CCDS31695.1																																																																																				0.428	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		-	123625130	A	-	123625130	7	5	113	1	0	1	0	1	0	0	0	0	11212	420	15	0	843	0	OR6X1	11	123625130	Frame_Shift_Del	DEL	A	TCGA-13-0913-01A-01W-0420-08	31538135	123625130	11381386	40	6059											
WNK1	65125	broad.mit.edu	37	12	939281	939281	+	Silent	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr12:939281C>T	ENST00000315939.6	+	4	1909	c.1266C>T	c.(1264-1266)taC>taT	p.Y422Y	WNK1_ENST00000530271.2_Silent_p.Y422Y|WNK1_ENST00000535572.1_Silent_p.Y422Y|WNK1_ENST00000537687.1_Silent_p.Y422Y|WNK1_ENST00000540360.1_3'UTR	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.Y422Y(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AATATCCTTACTCGGAGTGCC	0.453																																					Colon(19;451 567 6672 12618 28860)											1	Substitution - coding silent(1)	ovary(1)	12											220	183	196					12																	939281		2203	4300	6503	809542	SO:0001819	synonymous_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1266C>T	12.37:g.939281C>T			809542	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	CCDS8506.1																																																																																				0.453	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		T	939281	C	T	939281	2	4	113	1	0	0	0	0	0	0	0	1	17377	576	20	2		2	WNK1	12	939281	Silent	SNP	C	TCGA-13-0913-01A-01W-0420-08		939281	132912614	41	6060											
FOXJ2	55810	broad.mit.edu	37	12	8192607	8192614	+	Frame_Shift_Del	DEL	CAGTGCAC	CAGTGCAC	-	rs369499195		TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	CAGTGCAC	CAGTGCAC	-	-	CAGTGCAC	CAGTGCAC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr12:8192607_8192614delCAGTGCAC	ENST00000162391.3	+	2	1324_1331	c.179_186delCAGTGCAC	c.(178-186)gcagtgcacfs	p.AVH60fs	FOXJ2_ENST00000428177.2_Frame_Shift_Del_p.AVH60fs	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	60					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GACGAGGCAGCAGTGCACCAGGACGGCA	0.587																																																0			12																																								8083881	SO:0001589	frameshift_variant	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.179_186delCAGTGCAC	12.37:g.8192607_8192614delCAGTGCAC	ENSP00000162391:p.Ala60fs		8083874	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Frame_Shift_Del	DEL	ENST00000162391.3	37	CCDS8587.1																																																																																				0.587	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		-	8192614	CAGTGCAC	-	8192607	7	5	113	1	0	1	0	1	0	0	0	0	6012	710	25	0	181	0	FOXJ2	12	8192607	Frame_Shift_Del	DEL	CAGTGCAC	TCGA-13-0913-01A-01W-0420-08	7253326	8192607	125659288	42	6061											
H2AFJ	55766	broad.mit.edu	37	12	14927683	14927683	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr12:14927683G>C	ENST00000544848.1	+	1	414	c.279G>C	c.(277-279)gaG>gaC	p.E93D		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	93						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E93D(1)		NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						ACGACGAGGAGTTAAACAAGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											78	78	78					12																	14927683		2203	4300	6503	14818950	SO:0001583	missense	55766			AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"Histones / Replication-independent"	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.279G>C	12.37:g.14927683G>C	ENSP00000438553:p.Glu93Asp		14818950	Q9NV63	Missense_Mutation	SNP	ENST00000544848.1	37	CCDS31752.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487883	0.64074	.	.	ENSG00000246705	ENST00000544848;ENST00000228929	D;T	0.87729	-2.29;0.68	4.78	2.01	0.26516	Histone-fold (2);Histone H2A (1);	.	.	.	.	D	0.91099	0.7198	M	0.89658	3.05	0.39559	D	0.969106	P	0.51351	0.944	P	0.52424	0.698	D	0.90599	0.4543	9	0.87932	D	0	.	8.5962	0.33716	0.2569:0.0:0.7431:0.0	.	93	Q9BTM1	H2AJ_HUMAN	D	93	ENSP00000438553:E93D;ENSP00000228929:E93D	ENSP00000228929:E93D	E	+	3	2	H2AFJ	14818950	1.000000	0.71417	0.994000	0.49952	0.932000	0.56968	4.654000	0.61469	0.493000	0.27837	0.650000	0.86243	GAG		0.617	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		C	14927683	G	C	14927683	3	2	113	1	0	0	0	0	1	0	0	0	6926	1020	36	3	281	3	H2AFJ	12	14927683	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	6735076	14927683	118924212	43	6062											
STK38L	23012	broad.mit.edu	37	12	27470948	27470948	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr12:27470948C>A	ENST00000389032.3	+	11	1244	c.1075C>A	c.(1075-1077)Ctc>Atc	p.L359I	STK38L_ENST00000539577.1_Missense_Mutation_p.L266I	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like									p.L359I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GGACTTAATTCTCAGGTTAGT	0.398																																																1	Substitution - Missense(1)	ovary(1)	12											52	53	53					12																	27470948		2202	4300	6502	27362215	SO:0001583	missense	23012			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.1075C>A	12.37:g.27470948C>A	ENSP00000373684:p.Leu359Ile		27362215		Missense_Mutation	SNP	ENST00000389032.3	37	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114254	0.37339	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.65364	-0.15;-0.15	4.54	3.65	0.41850	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	0.47746	0.1462	N	0.17800	0.525	0.58432	D	0.999997	B;B	0.17038	0.02;0.009	B;B	0.24701	0.048;0.055	T	0.42378	-0.9455	10	0.34782	T	0.22	.	13.6036	0.62035	0.0:0.9237:0.0:0.0763	.	266;359	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	I	359;266	ENSP00000373684:L359I;ENSP00000446386:L266I	ENSP00000373684:L359I	L	+	1	0	STK38L	27362215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.957000	0.49137	1.508000	0.48769	0.557000	0.71058	CTC		0.398	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		A	27470948	C	A	27470948	3	1	113	1	0	0	0	0	1	0	0	0	15306	913	32	3	1113	3	STK38L	12	27470948	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08	12543265	27470948	106380947	44	6063											
CEP290	80184	broad.mit.edu	37	12	88465654	88465654	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr12:88465654G>C	ENST00000552810.1	-	42	6102	c.5759C>G	c.(5758-5760)gCc>gGc	p.A1920G	CEP290_ENST00000397838.3_Missense_Mutation_p.A980G|CEP290_ENST00000547691.2_Missense_Mutation_p.A980G|CEP290_ENST00000309041.7_Missense_Mutation_p.A1922G	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1920					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.A1922G(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCTATTTTGGCTTGCCACTT	0.333																																																1	Substitution - Missense(1)	ovary(1)	12											101	90	93					12																	88465654		1811	4068	5879	86989785	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5759C>G	12.37:g.88465654G>C	ENSP00000448012:p.Ala1920Gly		86989785	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878295	0.33162	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.65916	0.4;-0.18;-0.18;0.4	5.34	1.06	0.20224	.	0.564024	0.20852	N	0.084519	T	0.47002	0.1422	L	0.34521	1.04	0.19945	N	0.999949	B	0.27498	0.18	B	0.26310	0.068	T	0.25047	-1.0143	10	0.22706	T	0.39	.	11.9379	0.52884	0.1162:0.6585:0.2253:0.0	.	1920	O15078	CE290_HUMAN	G	980;1920;1922;980	ENSP00000446905:A980G;ENSP00000448012:A1920G;ENSP00000308021:A1922G;ENSP00000380938:A980G	ENSP00000308021:A1922G	A	-	2	0	CEP290	86989785	1.000000	0.71417	0.928000	0.36995	0.806000	0.45545	1.384000	0.34396	-0.094000	0.12374	0.460000	0.39030	GCC		0.333	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		C	88465654	G	C	88465654	3	2	113	1	0	0	0	0	1	0	0	0	3253	1203	42	3	1732	3	CEP290	12	88465654	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	60994706	88465654	45386241	45	6064											
MYH7	4625	broad.mit.edu	37	14	23901923	23901923	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr14:23901923G>A	ENST00000355349.3	-	5	589	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	143	Myosin motor.		R -> G (in CMH1). {ECO:0000269|PubMed:12820698}.|R -> Q (in CMH1). {ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15563892}.|R -> W (in CMH1). {ECO:0000269|PubMed:12974739}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R143W(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGCCCCGGTAGGCAGCC	0.597																																																1	Substitution - Missense(1)	ovary(1)	14	GRCh37	CM032601|CM034049	MYH7	M							77	75	75					14																	23901923		2203	4300	6503	22971763	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.427C>T	14.37:g.23901923G>A	ENSP00000347507:p.Arg143Trp		22971763	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	g	17.13	3.311190	0.60414	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88277	-2.36	3.61	2.61	0.31194	Myosin head, motor domain (2);	.	.	.	.	D	0.94948	0.8366	M	0.93106	3.38	0.50813	D	0.999898	D	0.89917	1.0	D	0.71656	0.974	D	0.95580	0.8645	9	0.87932	D	0	.	12.7883	0.57518	0.0:0.0:0.8364:0.1636	.	143	P12883	MYH7_HUMAN	W	143	ENSP00000347507:R143W	ENSP00000347507:R143W	R	-	1	2	MYH7	22971763	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	0.556000	0.23438	2.015000	0.59207	0.455000	0.32223	CGG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		A	23901923	G	A	23901923	3	1	113	1	0	0	0	0	1	0	0	0	10039	1115	39	1	5524	1	MYH7	14	23901923	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08		23901923	83447617	46	6065											
KIAA1409	57578	broad.mit.edu	37	14	94046550	94046600	+	In_Frame_Del	DEL	ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	-	rs114140274	byFrequency	TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	-	-	ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr14:94046550_94046600delACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	ENST00000393151.2	+	19	2489_2539	c.2489_2539delACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	c.(2488-2541)gacattatttctattataaacaatgtcttccaagccccctgggggggatcccac>gac	p.IISIINNVFQAPWGGSH831del	UNC79_ENST00000256339.4_In_Frame_Del_p.IISIINNVFQAPWGGSH654del|UNC79_ENST00000555664.1_In_Frame_Del_p.IISIINNVFQAPWGGSH831del|UNC79_ENST00000553484.1_In_Frame_Del_p.IISIINNVFQAPWGGSH831del			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	831					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I654_H670del(1)|p.G668fs*34(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTATCAAAGGACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCCACACCTGCCA	0.442																																																2	Deletion - Frameshift(1)|Deletion - In frame(1)	ovary(1)|breast(1)	14																																								93116353	SO:0001651	inframe_deletion	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2489_2539delACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	14.37:g.94046550_94046600delACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	ENSP00000376858:p.Ile831_His847del		93116303	B5MDL6|Q6ZUT7	In_Frame_Del	DEL	ENST00000393151.2	37																																																																																					0.442	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		-	94046600	ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	-	94046550	7	5	113	1	0	1	0	1	0	0	0	0	8230	275	10	0	2020	0	KIAA1409	14	94046550	In_Frame_Del	DEL	ACATTATTTCTATTATAAACAATGTCTTCCAAGCCCCCTGGGGGGGATCCC	TCGA-13-0913-01A-01W-0420-08	70144627	94046550	13302990	47	6066											
DLK1	8788	broad.mit.edu	37	14	101201221	101201221	+	Silent	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr14:101201221C>T	ENST00000341267.4	+	5	1382	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	DLK1_ENST00000331224.6_Silent_p.D307D|RP11-566J3.4_ENST00000608876.1_lincRNA	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	380					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.D380D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGCCGGCGACGAGGAGATCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	14											85	86	86					14																	101201221		2203	4300	6503	100270974	SO:0001819	synonymous_variant	8788			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1140C>T	14.37:g.101201221C>T			100270974	P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	CCDS9963.1																																																																																				0.547	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			T	101201221	C	T	101201221	2	4	113	1	0	0	0	0	0	0	0	1	4564	535	19	1		1	DLK1	14	101201221	Silent	SNP	C	TCGA-13-0913-01A-01W-0420-08	7154671	101201221	6148319	48	6067											
THBS1	7057	broad.mit.edu	37	15	39876542	39876542	+	Silent	SNP	T	T	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr15:39876542T>A	ENST00000260356.5	+	6	1110	c.945T>A	c.(943-945)ccT>ccA	p.P315P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	315					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.P315P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGAGGCGGCCTCCCCTATGCT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	15											100	97	98					15																	39876542		2200	4297	6497	37663834	SO:0001819	synonymous_variant	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.945T>A	15.37:g.39876542T>A			37663834	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																				0.483	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		A	39876542	T	A	39876542	2	1	113	1	0	0	0	0	0	0	0	1	15853	1538	54	5		5	THBS1	15	39876542	Silent	SNP	T	TCGA-13-0913-01A-01W-0420-08		39876542	62654850	49	6068											
TTBK2	146057	broad.mit.edu	37	15	43045190	43045190	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr15:43045190G>C	ENST00000267890.6	-	14	2362	c.2254C>G	c.(2254-2256)Caa>Gaa	p.Q752E		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	752					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q752E(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCCAGGTCTTGAGATTTGTTA	0.418																																																1	Substitution - Missense(1)	ovary(1)	15											204	192	196					15																	43045190		1859	4096	5955	40832482	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2254C>G	15.37:g.43045190G>C	ENSP00000267890:p.Gln752Glu		40832482	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303755	0.40795	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.37752	1.18	5.64	5.64	0.86602	.	1.308940	0.04923	N	0.455412	T	0.43567	0.1253	L	0.54323	1.7	0.80722	D	1	P;B	0.36837	0.571;0.435	B;B	0.33392	0.163;0.078	T	0.45160	-0.9280	10	0.44086	T	0.13	.	19.6981	0.96039	0.0:0.0:1.0:0.0	.	683;752	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	E	752;682;1157	ENSP00000267890:Q752E	ENSP00000263802:Q1157E	Q	-	1	0	TTBK2	40832482	0.972000	0.33761	1.000000	0.80357	0.988000	0.76386	1.839000	0.39220	2.651000	0.90000	0.591000	0.81541	CAA		0.418	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		C	43045190	G	C	43045190	3	2	113	1	0	0	0	0	1	0	0	0	16677	1299	45	3	1488	3	TTBK2	15	43045190	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	3168648	43045190	59486202	50	6069											
IL4R	3566	broad.mit.edu	37	16	27374402	27374402	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr16:27374402G>A	ENST00000395762.2	+	11	1988	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	IL4R_ENST00000170630.2_Missense_Mutation_p.E577K|IL4R_ENST00000543915.2_Missense_Mutation_p.E577K|IL4R_ENST00000380922.3_Missense_Mutation_p.E562K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	577	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.E577K(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGCTATCAGGAGTTTGTACA	0.642																																																1	Substitution - Missense(1)	ovary(1)	16											27	33	31					16																	27374402		2197	4300	6497	27281903	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1729G>A	16.37:g.27374402G>A	ENSP00000379111:p.Glu577Lys		27281903	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187081	0.38609	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	4.81	1.39	0.22231	.	4.695580	0.00687	N	0.000700	T	0.13970	0.0338	M	0.62723	1.935	0.09310	N	1	P;P;P	0.39809	0.689;0.689;0.689	B;B;B	0.38954	0.286;0.286;0.286	T	0.21008	-1.0258	10	0.56958	D	0.05	-27.4398	2.1198	0.03723	0.1107:0.1614:0.4751:0.2528	.	562;577;577	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	K	577;577;562;577	ENSP00000379111:E577K;ENSP00000441667:E577K;ENSP00000370309:E562K;ENSP00000170630:E577K	ENSP00000170630:E577K	E	+	1	0	IL4R	27281903	0.992000	0.36948	0.129000	0.21949	0.606000	0.37113	1.806000	0.38892	0.449000	0.26747	0.555000	0.69702	GAG		0.642	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			A	27374402	G	A	27374402	3	1	113	1	0	0	0	0	1	0	0	0	7698	1175	41	2	1781	2	IL4R	16	27374402	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08		27374402	62980351	51	6070											
TUBB3	10381	broad.mit.edu	37	16	89999963	89999963	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr16:89999963T>C	ENST00000315491.7	+	3	377	c.254T>C	c.(253-255)tTc>tCc	p.F85S	TUBB3_ENST00000304984.5_Missense_Mutation_p.F13S|TUBB3_ENST00000553967.1_Missense_Mutation_p.F85S|TUBB3_ENST00000554336.1_Missense_Mutation_p.F85S|TUBB3_ENST00000556922.1_Missense_Mutation_p.F432S|TUBB3_ENST00000555576.1_Missense_Mutation_p.F85S|TUBB3_ENST00000554444.1_Missense_Mutation_p.F13S	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	85					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.F85S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GGACATCTCTTCAGGCCTGAC	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											175	168	170					16																	89999963		2198	4300	6498	88527464	SO:0001583	missense	10381			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.254T>C	16.37:g.89999963T>C	ENSP00000320295:p.Phe85Ser		88527464	A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893819	0.52121	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000554336;ENST00000553967;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000556565;ENST00000315491;ENST00000555576	T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	4.57	4.57	0.56435	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000012	D	0.90484	0.7019	H	0.99404	4.55	0.50632	D	0.999881	P;D	0.89917	0.952;1.0	D;D	0.83275	0.983;0.996	D	0.93488	0.6833	9	.	.	.	.	12.1972	0.54305	0.0:0.0:0.0:1.0	.	85;85	Q13509;B2RBD5	TBB3_HUMAN;.	S	432;85;85;85;13;13;13;13;85;85	ENSP00000451560:F432S;ENSP00000450822:F85S;ENSP00000450765:F85S;ENSP00000302777:F13S;ENSP00000450538:F13S;ENSP00000451617:F13S;ENSP00000452166:F13S;ENSP00000320295:F85S;ENSP00000452554:F85S	.	F	+	2	0	RP11-566K11.2;TUBB3	88527464	1.000000	0.71417	0.995000	0.50966	0.581000	0.36288	7.852000	0.86927	1.830000	0.53286	0.528000	0.53228	TTC		0.587	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		C	89999963	T	C	89999963	3	2	113	1	0	0	0	0	1	0	0	0	16757	1783	62	4	264	4	TUBB3	16	89999963	Missense_Mutation	SNP	T	TCGA-13-0913-01A-01W-0420-08	62625561	89999963	354790	52	6071											
YWHAE	7531	broad.mit.edu	37	17	1303362	1303362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr17:1303362C>A	ENST00000264335.8	-	1	310	c.43G>T	c.(43-45)Gag>Tag	p.E15*	YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000573026.1_Nonsense_Mutation_p.E15*|YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Nonsense_Mutation_p.E15*	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	15					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.E15*(1)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TCAGCCTGCTCGGCCAGCTTC	0.652			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																																Dom	yes		17	17p13.3	7531	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	M	1	Substitution - Nonsense(1)	ovary(1)	17											69	66	67					17																	1303362		2203	4300	6503	1250112	SO:0001587	stop_gained	7531			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.43G>T	17.37:g.1303362C>A	ENSP00000264335:p.Glu15*		1250112	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Nonsense_Mutation	SNP	ENST00000264335.8	37	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	40	8.335272	0.98764	.	.	ENSG00000108953	ENST00000264335	.	.	.	4.84	4.84	0.62591	.	0.134298	0.48286	U	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.4581	15.4763	0.75481	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000264335:E15X	E	-	1	0	YWHAE	1250112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.546000	0.60705	2.528000	0.85240	0.484000	0.47621	GAG		0.652	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		A	1303362	C	A	1303362	4	1	113	1	0	0	0	0	0	1	0	0	17502	893	31	3	748	3	YWHAE	17	1303362	Nonsense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08		1303362	79891848	53	6072											
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr17:7577105G>C	ENST00000269305.4	-	8	1022	c.833C>G	c.(832-834)cCt>cGt	p.P278R	TP53_ENST00000420246.2_Missense_Mutation_p.P278R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P278R|TP53_ENST00000359597.4_Missense_Mutation_p.P278R	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTCTCTCCCAGGACAGGCACA	0.552		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"	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	17	GRCh37	CM961376	TP53	M							72	63	66					17																	7577105		2203	4300	6503	7517830	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.833C>G	17.37:g.7577105G>C	ENSP00000269305:p.Pro278Arg		7517830	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	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422173	0.83559	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	278;278;278;278;278;267;146	ENSP00000352610:P278R;ENSP00000269305:P278R;ENSP00000398846:P278R;ENSP00000391127:P278R;ENSP00000391478:P278R;ENSP00000425104:P146R	ENSP00000269305:P278R	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577105	G	C	7577105	3	2	113	1	0	0	0	0	1	0	0	0	16381	1000	35	3	453	3	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	6273743	7577105	73618105	54	6073											
TNS4	84951	broad.mit.edu	37	17	38636046	38636046	+	Missense_Mutation	SNP	C	C	T	rs375842965		TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr17:38636046C>T	ENST00000254051.6	-	10	1948	c.1790G>A	c.(1789-1791)gGa>gAa	p.G597E		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	597	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.G597E(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGCCAGGGCTCCAGTCAGGGT	0.632																																																1	Substitution - Missense(1)	ovary(1)	17											87	65	72					17																	38636046		2203	4300	6503	35889572	SO:0001583	missense	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1790G>A	17.37:g.38636046C>T	ENSP00000254051:p.Gly597Glu		35889572	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878492	0.72294	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.63744	-0.06	4.86	4.86	0.63082	Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.53938	D	0.000058	T	0.82176	0.4980	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86065	0.1534	10	0.87932	D	0	-11.0853	17.6127	0.88059	0.0:1.0:0.0:0.0	.	597	Q8IZW8	TENS4_HUMAN	E	597	ENSP00000254051:G597E	ENSP00000254051:G597E	G	-	2	0	TNS4	35889572	1.000000	0.71417	0.972000	0.41901	0.205000	0.24178	7.736000	0.84948	2.263000	0.75096	0.462000	0.41574	GGA		0.632	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		T	38636046	C	T	38636046	3	4	113	1	0	0	0	0	1	0	0	0	16345	855	30	2	373	2	TNS4	17	38636046	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08	31058941	38636046	42559164	55	6074											
WFIKKN2	124857	broad.mit.edu	37	17	48917337	48917337	+	Missense_Mutation	SNP	C	C	T	rs562619882		TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr17:48917337C>T	ENST00000311378.4	+	2	1216	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.L137F	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	230	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L230F(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGTGAGCTTCCTCTGTGATGT	0.632																																																1	Substitution - Missense(1)	ovary(1)	17											84	84	84					17																	48917337		2203	4300	6503	46272336	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.688C>T	17.37:g.48917337C>T	ENSP00000311184:p.Leu230Phe		46272336	Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502893	0.85176	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.67345	-0.26;-0.26	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064395	0.64402	D	0.000005	T	0.70046	0.3179	N	0.20986	0.625	0.80722	D	1	P	0.52316	0.952	P	0.57846	0.828	T	0.73528	-0.3954	10	0.62326	D	0.03	.	19.2585	0.93957	0.0:1.0:0.0:0.0	.	230	Q8TEU8	WFKN2_HUMAN	F	137;230	ENSP00000405889:L137F;ENSP00000311184:L230F	ENSP00000311184:L230F	L	+	1	0	WFIKKN2	46272336	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.801000	0.85960	2.533000	0.85409	0.651000	0.88453	CTC		0.632	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		T	48917337	C	T	48917337	3	4	113	1	0	0	0	0	1	0	0	0	17359	681	24	2	694	2	WFIKKN2	17	48917337	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08	10281291	48917337	32277873	56	6075											
COX11	1353	broad.mit.edu	37	17	53045991	53045991	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr17:53045991C>A	ENST00000299335.3	-	1	155	c.17G>T	c.(16-18)cGt>cTt	p.R6L	STXBP4_ENST00000434978.2_5'Flank|STXBP4_ENST00000398391.2_5'Flank|STXBP4_ENST00000299341.4_5'Flank|COX11_ENST00000571584.1_Missense_Mutation_p.R6L|STXBP4_ENST00000376352.2_5'Flank|STXBP4_ENST00000405898.1_5'Flank	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	6					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)	p.R6L(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						CCATCCAGGACGCCAGAGCCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	17											62	66	64					17																	53045991		2046	4079	6125	50400990	SO:0001583	missense	1353			AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"Mitochondrial respiratory chain complex assembly factors"	2261	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit 11", "cytochrome c oxidase assembly protein COX11"	603648	"COX11 (yeast) homolog, cytochrome c oxidase assembly protein", "COX11 cytochrome c oxidase assembly homolog (yeast)"			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.17G>T	17.37:g.53045991C>A	ENSP00000299335:p.Arg6Leu		50400990	D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Missense_Mutation	SNP	ENST00000299335.3	37	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	c	5.896	0.349467	0.11182	.	.	ENSG00000166260	ENST00000299335	T	0.41758	0.99	4.92	-3.04	0.05412	.	1.106060	0.06884	N	0.803106	T	0.22704	0.0548	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23547	-1.0185	10	0.15066	T	0.55	-8.1474	5.073	0.14617	0.1368:0.4389:0.3402:0.0841	.	6;6	B4DI26;Q9Y6N1	.;COX11_HUMAN	L	6	ENSP00000299335:R6L	ENSP00000299335:R6L	R	-	2	0	COX11	50400990	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.978000	0.03778	-0.281000	0.09141	-0.956000	0.02647	CGT		0.617	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		A	53045991	C	A	53045991	3	1	113	1	0	0	0	0	1	0	0	0	3763	536	19	3	895	3	COX11	17	53045991	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08	4128654	53045991	28149219	57	6076											
TTYH2	94015	broad.mit.edu	37	17	72246457	72246457	+	Silent	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr17:72246457C>T	ENST00000269346.4	+	10	1151	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	TTYH2_ENST00000441391.2_Silent_p.H38H|TTYH2_ENST00000529107.1_Silent_p.H338H	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	359						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.H359H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAGCCTTCACCAGCTGACCG	0.637																																																1	Substitution - coding silent(1)	ovary(1)	17											44	41	42					17																	72246457		2203	4300	6503	69758052	SO:0001819	synonymous_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1077C>T	17.37:g.72246457C>T			69758052	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.637	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			T	72246457	C	T	72246457	2	4	113	1	0	0	0	0	0	0	0	1	16740	506	18	2		2	TTYH2	17	72246457	Silent	SNP	C	TCGA-13-0913-01A-01W-0420-08	19200466	72246457	8948753	58	6077											
KIAA0802	23255	broad.mit.edu	37	18	8825314	8825314	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr18:8825314C>T	ENST00000306329.11	+	13	4763	c.4763C>T	c.(4762-4764)tCc>tTc	p.S1588F	SOGA2_ENST00000359865.3_Missense_Mutation_p.S1269F|SOGA2_ENST00000306285.7_Missense_Mutation_p.S594F|SOGA2_ENST00000517570.1_Missense_Mutation_p.S1228F|SOGA2_ENST00000400050.3_Missense_Mutation_p.S1228F|SOGA2_ENST00000518815.1_Missense_Mutation_p.S594F														p.S1269F(1)									GGGTTTGCCTCCCCACTGCAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	18											50	47	48					18																	8825314		2203	4300	6503	8815314	SO:0001583	missense	23255																														ENST00000306329.11:c.4763C>T	18.37:g.8825314C>T	ENSP00000305027:p.Ser1588Phe		8815314		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	16.73	3.204720	0.58234	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.24	3.29	0.37713	.	0.000000	0.47852	D	0.000205	T	0.55000	0.1893	M	0.66939	2.045	0.41536	D	0.988485	D;D	0.63880	0.991;0.993	P;D	0.65684	0.786;0.937	T	0.61700	-0.7009	10	0.87932	D	0	-11.1676	13.5881	0.61944	0.2822:0.7178:0.0:0.0	.	1579;1269	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	F	1290;1228;1269;1228;594	ENSP00000429556:S1228F;ENSP00000352927:S1269F;ENSP00000382924:S1228F;ENSP00000303670:S594F	ENSP00000303670:S594F	S	+	2	0	CCDC165	8815314	1.000000	0.71417	0.046000	0.18839	0.797000	0.45037	7.651000	0.83577	1.165000	0.42670	0.655000	0.94253	TCC		0.627	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8825314	C	T	8825314	3	4	113	1	0	0	0	0	1	0	0	0	8194	855	30	2	3856	2	KIAA0802	18	8825314	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08		8825314	69251934	59	6078											
LAMA3	3909	broad.mit.edu	37	18	21419836	21419836	+	Silent	SNP	C	C	G			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr18:21419836C>G	ENST00000313654.9	+	27	3520	c.3279C>G	c.(3277-3279)ccC>ccG	p.P1093P	LAMA3_ENST00000399516.3_Silent_p.P1093P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1093	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.P1093P(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTCACCTGCCCCAGCAGTCGT	0.493																																																1	Substitution - coding silent(1)	ovary(1)	18											106	107	106					18																	21419836		1964	4148	6112	19673834	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3279C>G	18.37:g.21419836C>G			19673834	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.493	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		G	21419836	C	G	21419836	2	3	113	1	0	0	0	0	0	0	0	1	8607	610	22	3		3	LAMA3	18	21419836	Silent	SNP	C	TCGA-13-0913-01A-01W-0420-08	12594522	21419836	56657412	60	6079											
MUC16	94025	broad.mit.edu	37	19	9083768	9083768	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr19:9083768C>T	ENST00000397910.4	-	1	8250	c.8047G>A	c.(8047-8049)Gag>Aag	p.E2683K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2683	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E2683K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGTAGTCTCTGGGACTGTG	0.488																																																1	Substitution - Missense(1)	ovary(1)	19											86	82	83					19																	9083768		1969	4149	6118	8944768	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8047G>A	19.37:g.9083768C>T	ENSP00000381008:p.Glu2683Lys		8944768	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.307	0.614265	0.14129	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	0.235	0.235	0.15431	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	.	.	.	P	0.49696	0.927	P	0.56563	0.801	T	0.45862	-0.9232	7	0.87932	D	0	.	.	.	.	.	2683	B5ME49	.	K	2683	ENSP00000381008:E2683K	ENSP00000381008:E2683K	E	-	1	0	MUC16	8944768	0.047000	0.20315	0.345000	0.25642	0.351000	0.29236	0.673000	0.25203	0.308000	0.22923	0.313000	0.20887	GAG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9083768	C	T	9083768	3	4	113	1	0	0	0	0	1	0	0	0	9973	922	32	2	35812	2	MUC16	19	9083768	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08		9083768	50045215	61	6080											
MUC16	94025	broad.mit.edu	37	19	9088834	9088848	+	In_Frame_Del	DEL	GCAGAGAGAGAAGTG	GCAGAGAGAGAAGTG	-	rs76966635		TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	GCAGAGAGAGAAGTG	GCAGAGAGAGAAGTG	-	-	GCAGAGAGAGAAGTG	GCAGAGAGAGAAGTG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr19:9088834_9088848delGCAGAGAGAGAAGTG	ENST00000397910.4	-	1	3170_3184	c.2967_2981delCACTTCTCTCTCTGC	c.(2965-2982)gccacttctctctctgct>gct	p.989_994ATSLSA>A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	989	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTACAGTAGCAGAGAGAGAAGTGGCAGAGGTTG	0.47																																																0			19																																								8949848	SO:0001651	inframe_deletion	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2967_2981delCACTTCTCTCTCTGC	19.37:g.9088834_9088848delGCAGAGAGAGAAGTG	ENSP00000381008:p.Ala989_Ser993del		8949834	Q6ZQW5|Q96RK2	In_Frame_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																				0.47	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		-	9088848	GCAGAGAGAGAAGTG	-	9088834	7	5	113	1	0	1	0	1	0	0	0	0	9973	971	34	0	40878	0	MUC16	19	9088834	In_Frame_Del	DEL	GCAGAGAGAGAAGTG	TCGA-13-0913-01A-01W-0420-08	5066	9088834	50040149	62	6081											
ILF3	3609	broad.mit.edu	37	19	10793341	10793341	+	Silent	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr19:10793341C>T	ENST00000590261.1	+	12	1509	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	ILF3_ENST00000592763.1_Silent_p.S503S|ILF3_ENST00000588657.1_Silent_p.S503S|ILF3_ENST00000589998.1_Silent_p.S503S|ILF3_ENST00000449870.1_Silent_p.S503S|ILF3_ENST00000407004.3_Silent_p.S503S|ILF3_ENST00000318511.3_Silent_p.S503S|ILF3_ENST00000250241.8_Silent_p.S503S|ILF3_ENST00000420083.1_Silent_p.S503S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	503					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S503S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AAGCTGTCTCCACCCCTAGTG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	19											54	47	49					19																	10793341		2203	4300	6503	10654341	SO:0001819	synonymous_variant	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1509C>T	19.37:g.10793341C>T			10654341	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																				0.652	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			T	10793341	C	T	10793341	2	4	113	1	0	0	0	0	0	0	0	1	7712	581	21	2		2	ILF3	19	10793341	Silent	SNP	C	TCGA-13-0913-01A-01W-0420-08	1704507	10793341	48335642	63	6082											
ASNA1	439	broad.mit.edu	37	19	12856512	12856523	+	In_Frame_Del	DEL	TGGAGCGGGGCC	TGGAGCGGGGCC	-			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	TGGAGCGGGGCC	TGGAGCGGGGCC	-	-	TGGAGCGGGGCC	TGGAGCGGGGCC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr19:12856512_12856523delTGGAGCGGGGCC	ENST00000591090.1	+	5	650_661	c.548_559delTGGAGCGGGGCC	c.(547-561)gtggagcggggcctg>gtg	p.ERGL184del	ASNA1_ENST00000357332.3_In_Frame_Del_p.ERGL184del					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)									p.E184_L187del(1)		endometrium(1)|lung(6)|ovary(3)	10						CCCACCATCGTGGAGCGGGGCCTGGGCCGGCT	0.642																																																1	Deletion - In frame(1)	ovary(1)	19																																								12717523	SO:0001651	inframe_deletion	439			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.548_559delTGGAGCGGGGCC	19.37:g.12856512_12856523delTGGAGCGGGGCC	ENSP00000466379:p.Glu184_Leu187del		12717512		In_Frame_Del	DEL	ENST00000591090.1	37	CCDS32920.1																																																																																				0.642	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		-	12856523	TGGAGCGGGGCC	-	12856512	7	5	113	1	0	1	0	1	0	0	0	0	1047	1696	59	0	562	0	ASNA1	19	12856512	In_Frame_Del	DEL	TGGAGCGGGGCC	TCGA-13-0913-01A-01W-0420-08	2063171	12856512	46272471	64	6083											
PRODH2	58510	broad.mit.edu	37	19	36303153	36303153	+	Missense_Mutation	SNP	G	G	T	rs374226189		TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr19:36303153G>T	ENST00000301175.3	-	4	638	c.621C>A	c.(619-621)aaC>aaA	p.N207K		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	207					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.N207K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAGCACCGAGGTTCCCCTCAT	0.682																																																1	Substitution - Missense(1)	ovary(1)	19											74	73	73					19																	36303153		2203	4299	6502	40994993	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.621C>A	19.37:g.36303153G>T	ENSP00000301175:p.Asn207Lys		40994993		Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064252	0.55432	.	.	ENSG00000250799	ENST00000301175	T	0.27557	1.66	5.34	5.34	0.76211	.	.	.	.	.	T	0.47192	0.1432	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.41502	-0.9505	9	0.13108	T	0.6	.	10.0522	0.42223	0.0914:0.0:0.9086:0.0	.	207	Q9UF12	PROD2_HUMAN	K	207	ENSP00000301175:N207K	ENSP00000301175:N207K	N	-	3	2	PRODH2	40994993	1.000000	0.71417	0.996000	0.52242	0.235000	0.25334	3.975000	0.56859	2.493000	0.84123	0.650000	0.86243	AAC		0.682	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		T	36303153	G	T	36303153	3	4	113	1	0	0	0	0	1	0	0	0	12552	1252	44	3	1021	3	PRODH2	19	36303153	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	23446641	36303153	22825830	65	6084											
TEX101	83639	broad.mit.edu	37	19	43920393	43920393	+	Splice_Site	SNP	A	A	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr19:43920393A>T	ENST00000598265.1	+	3	373	c.207A>T	c.(205-207)gcA>gcT	p.A69A	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Splice_Site_p.A87A|TEX101_ENST00000602198.1_Splice_Site_p.A87A	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	69						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A87A(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TAATTAAAGCAGGTGAAATGA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	19											56	57	57					19																	43920393		2203	4300	6503	48612233	SO:0001630	splice_region_variant	83639			AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.208+1A>T	19.37:g.43920393A>T			48612233	Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	CCDS59393.1																																																																																				0.488	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451	Silent	T	43920393	A	T	43920393	5	4	113	1	0	0	0	0	0	0	1	0	15773	202	7	5	271	5	TEX101	19	43920393	Splice_Site	SNP	A	TCGA-13-0913-01A-01W-0420-08	7617240	43920393	15208590	66	6085											
ZNF610	162963	broad.mit.edu	37	19	52869553	52869553	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr19:52869553G>A	ENST00000403906.3	+	6	1378	c.922G>A	c.(922-924)Gta>Ata	p.V308I	ZNF610_ENST00000321287.8_Missense_Mutation_p.V308I|ZNF610_ENST00000327920.8_Missense_Mutation_p.V308I|ZNF610_ENST00000601151.1_Missense_Mutation_p.V265I	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V308I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TACCCATCTTGTAATCCATAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	19											51	49	50					19																	52869553		2203	4300	6503	57561365	SO:0001583	missense	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.922G>A	19.37:g.52869553G>A	ENSP00000383922:p.Val308Ile		57561365	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	2.908	-0.225911	0.06022	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.17054	2.3;2.3	1.69	-3.37	0.04898	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	N	0.17838	0.53	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30208	-0.9986	9	0.62326	D	0.03	.	4.5667	0.12189	0.5628:0.1681:0.269:0.0	.	265;308	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	I	308;265;308	ENSP00000383922:V308I;ENSP00000327597:V308I	ENSP00000324441:V265I	V	+	1	0	ZNF610	57561365	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.085000	0.11250	-1.083000	0.03097	-0.657000	0.03884	GTA		0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		A	52869553	G	A	52869553	3	1	113	1	0	0	0	0	1	0	0	0	18036	1377	48	2	936	2	ZNF610	19	52869553	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	8949160	52869553	6259430	67	6086											
ZSCAN1	284312	broad.mit.edu	37	19	58563899	58563899	+	Silent	SNP	A	A	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr19:58563899A>T	ENST00000282326.1	+	5	754	c.507A>T	c.(505-507)gcA>gcT	p.A169A		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	169					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.A169A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGCCCCAGCACTCCCCGAGG	0.657																																																1	Substitution - coding silent(1)	ovary(1)	19											40	42	41					19																	58563899		2203	4300	6503	63255711	SO:0001819	synonymous_variant	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.507A>T	19.37:g.58563899A>T			63255711	Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	CCDS12969.1																																																																																				0.657	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		T	58563899	A	T	58563899	2	4	113	1	0	0	0	0	0	0	0	1	18226	146	6	5		5	ZSCAN1	19	58563899	Silent	SNP	A	TCGA-13-0913-01A-01W-0420-08	5694346	58563899	565084	68	6087											
SLC4A11	83959	broad.mit.edu	37	20	3215474	3215474	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr20:3215474A>T	ENST00000380056.3	-	2	250	c.203T>A	c.(202-204)tTc>tAc	p.F68Y	SLC4A11_ENST00000380059.3_Missense_Mutation_p.F95Y|SLC4A11_ENST00000539553.2_Missense_Mutation_p.F52Y	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	68					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.F68Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCAGTGTCGAAGGCCTCATC	0.552																																					NSCLC(190;922 2139 10266 10292 38692)											1	Substitution - Missense(1)	ovary(1)	20											122	105	111					20																	3215474		2203	4300	6503	3163474	SO:0001583	missense	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.203T>A	20.37:g.3215474A>T	ENSP00000369396:p.Phe68Tyr		3163474	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972148	0.34754	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	D;D;D;D	0.83755	-1.7;-1.67;-1.63;-1.76	4.76	3.64	0.41730	.	1.138580	0.06812	N	0.790542	D	0.86112	0.5855	L	0.60455	1.87	0.36227	D	0.852405	D;P;D	0.56746	0.977;0.92;0.961	P;B;P	0.52793	0.709;0.265;0.516	T	0.78013	-0.2370	10	0.44086	T	0.13	.	10.5966	0.45341	0.8379:0.1621:0.0:0.0	.	52;95;68	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	Y	95;68;52;52	ENSP00000369399:F95Y;ENSP00000369396:F68Y;ENSP00000441370:F52Y;ENSP00000404271:F52Y	ENSP00000369396:F68Y	F	-	2	0	SLC4A11	3163474	0.874000	0.30092	0.685000	0.30070	0.013000	0.08279	2.227000	0.42972	0.656000	0.30886	0.533000	0.62120	TTC		0.552	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			T	3215474	A	T	3215474	3	4	113	1	0	0	0	0	1	0	0	0	14655	246	9	5	2544	5	SLC4A11	20	3215474	Missense_Mutation	SNP	A	TCGA-13-0913-01A-01W-0420-08		3215474	59810046	69	6088											
WFDC5	149708	broad.mit.edu	37	20	43739361	43739361	+	Silent	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr20:43739361G>A	ENST00000307971.4	-	2	219	c.141C>T	c.(139-141)gaC>gaT	p.D47D	WFDC5_ENST00000372789.4_Silent_p.D47D			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	47	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D47D(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCACGCACTGGTCAGGCACCG	0.582																																					NSCLC(199;98 2227 9943 13455 41914)											1	Substitution - coding silent(1)	ovary(1)	20											71	64	66					20																	43739361		2203	4300	6503	43172775	SO:0001819	synonymous_variant	149708			AY038181	CCDS33475.1	20q13.11	2013-01-21			ENSG00000175121	ENSG00000175121		"WAP four-disulfide core domain containing"	20477	protein-coding gene	gene with protein product		605161				12206714, 10680116	Standard	NM_145652		Approved	WAP1, dJ211D12.5	uc002xne.2	Q8TCV5	OTTHUMG00000046411	ENST00000307971.4:c.141C>T	20.37:g.43739361G>A			43172775	Q5H981|Q6UWE4	Silent	SNP	ENST00000307971.4	37																																																																																					0.582	WFDC5-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000107192.1			A	43739361	G	A	43739361	2	1	113	1	0	0	0	0	0	0	0	1	17354	1252	44	2		2	WFDC5	20	43739361	Silent	SNP	G	TCGA-13-0913-01A-01W-0420-08	40523887	43739361	19286159	70	6089											
STAU1	6780	broad.mit.edu	37	20	47736556	47736556	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr20:47736556G>A	ENST00000371856.2	-	9	1486	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V	STAU1_ENST00000347458.5_Missense_Mutation_p.A278V|STAU1_ENST00000340954.7_Missense_Mutation_p.A278V|STAU1_ENST00000371828.3_Missense_Mutation_p.A284V|STAU1_ENST00000371802.1_Missense_Mutation_p.A284V|STAU1_ENST00000360426.4_Missense_Mutation_p.A278V|STAU1_ENST00000371792.1_Missense_Mutation_p.A276V	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	359				A -> R (in Ref. 1 and 2). {ECO:0000305}.	intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.A359V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GGTGGGCTGCGCCTGCGGGAC	0.577																																																1	Substitution - Missense(1)	ovary(1)	20											113	82	93					20																	47736556		2203	4300	6503	47169963	SO:0001583	missense	6780				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1076C>T	20.37:g.47736556G>A	ENSP00000360922:p.Ala359Val		47169963	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043364	0.75732	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.81	5.81	0.92471	.	0.099661	0.64402	D	0.000001	T	0.47414	0.1444	N	0.08118	0	0.47153	D	0.999332	B;B	0.17038	0.02;0.02	B;B	0.09377	0.004;0.003	T	0.42965	-0.9420	10	0.72032	D	0.01	-5.3093	20.0795	0.97766	0.0:0.0:1.0:0.0	.	359;284	O95793;Q5JW29	STAU1_HUMAN;.	V	284;278;359;278;278;278;284;276	ENSP00000360893:A284V;ENSP00000345425:A278V;ENSP00000360922:A359V;ENSP00000353604:A278V;ENSP00000323443:A278V;ENSP00000360867:A284V;ENSP00000360857:A276V	ENSP00000345425:A278V	A	-	2	0	STAU1	47169963	1.000000	0.71417	0.826000	0.32828	0.785000	0.44390	9.362000	0.97126	2.747000	0.94245	0.650000	0.86243	GCG		0.577	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		A	47736556	G	A	47736556	3	1	113	1	0	0	0	0	1	0	0	0	15274	1087	38	1	681	1	STAU1	20	47736556	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	3997195	47736556	15288964	71	6090											
GNAS	2778	broad.mit.edu	37	20	57480494	57480494	+	Nonsense_Mutation	SNP	C	C	G	rs372290095		TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr20:57480494C>G	ENST00000371085.3	+	6	913	c.489C>G	c.(487-489)taC>taG	p.Y163*	GNAS_ENST00000371095.3_Nonsense_Mutation_p.Y149*|GNAS_ENST00000265620.7_Nonsense_Mutation_p.Y148*|GNAS_ENST00000371102.4_Nonsense_Mutation_p.Y792*|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Nonsense_Mutation_p.Y149*|GNAS_ENST00000371100.4_Nonsense_Mutation_p.Y806*|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Nonsense_Mutation_p.Y164*	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	163					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Y806*(2)|p.Y163*(2)|p.Y806Y(1)|p.Y163Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTGCCTGCTACGAACGCTCCA	0.468			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	6	Substitution - Nonsense(4)|Substitution - coding silent(2)	ovary(4)|prostate(2)	20	GRCh37	CM002274	GNAS	M							127	116	120					20																	57480494		2203	4300	6503	56913889	SO:0001587	stop_gained	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.489C>G	20.37:g.57480494C>G	ENSP00000360126:p.Tyr163*		56913889	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Nonsense_Mutation	SNP	ENST00000371085.3	37	CCDS13472.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.68|11.68	1.709782|1.709782	0.30322|0.30322	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371100;ENST00000371102;ENST00000349036;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	.|.	.|.	.|.	5.93|5.93	-11.9|-11.9	0.00025|0.00025	.|.	.|0.299614	.|0.37053	.|N	.|0.002265	T|.	0.43100|.	0.1232|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.58370|.	-0.7648|.	3|.	.|0.10902	.|T	.|0.67	.|.	19.0914|19.0914	0.93228|0.93228	0.0:0.426:0.0:0.574|0.0:0.426:0.0:0.574	.|.	.|.	.|.	.|.	G|X	178|806;792;180;149;163;164;148;149	.|.	.|ENSP00000265620:Y148X	R|Y	+|+	1|3	2|2	GNAS|GNAS	56913889|56913889	0.000000|0.000000	0.05858|0.05858	0.228000|0.228000	0.23943|0.23943	0.653000|0.653000	0.38743|0.38743	-2.176000|-2.176000	0.01262|0.01262	-2.589000|-2.589000	0.00457|0.00457	-2.036000|-2.036000	0.00420|0.00420	CGA|TAC		0.468	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		G	57480494	C	G	57480494	4	3	113	1	0	0	0	0	0	1	0	0	6510	547	19	3	3328	3	GNAS	20	57480494	Nonsense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08	9743938	57480494	5545026	72	6091											
GGT5	2687	broad.mit.edu	37	22	24622670	24622670	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chr22:24622670C>T	ENST00000327365.4	-	7	1383	c.967G>A	c.(967-969)Gta>Ata	p.V323I	GGT5_ENST00000398292.3_Missense_Mutation_p.V323I|GGT5_ENST00000263112.7_Missense_Mutation_p.V291I|GGT5_ENST00000418439.2_Missense_Mutation_p.V246I	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	323					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.V323I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGCGTCTCTACAAGGTGGTGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	22											128	115	120					22																	24622670		2203	4300	6503	22952670	SO:0001583	missense	2687			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.967G>A	22.37:g.24622670C>T	ENSP00000330080:p.Val323Ile		22952670	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.283221	0.23392	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	3.13	3.13	0.36017	.	0.248834	0.33180	N	0.005189	T	0.16257	0.0391	L	0.39898	1.24	0.24802	N	0.992692	D;B;B;B;B	0.69078	0.997;0.207;0.41;0.379;0.41	D;B;B;B;B	0.64410	0.925;0.279;0.23;0.124;0.23	T	0.03473	-1.1033	10	0.33940	T	0.23	-20.8784	12.1325	0.53950	0.0:1.0:0.0:0.0	.	246;291;323;323;323	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	I	323;291;238;323;246	ENSP00000330080:V323I;ENSP00000263112:V291I;ENSP00000381340:V323I;ENSP00000392146:V246I	ENSP00000263112:V291I	V	-	1	0	GGT5	22952670	0.985000	0.35326	0.908000	0.35775	0.716000	0.41182	2.774000	0.47694	1.766000	0.52107	0.478000	0.44815	GTA		0.602	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		T	24622670	C	T	24622670	3	4	113	1	0	0	0	0	1	0	0	0	6362	478	17	2	820	2	GGT5	22	24622670	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08		24622670	26681896	73	6092											
POLA1	5422	broad.mit.edu	37	X	24828032	24828032	+	Silent	SNP	A	A	G			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chrX:24828032A>G	ENST00000379059.3	+	27	2979	c.2964A>G	c.(2962-2964)aaA>aaG	p.K988K	POLA1_ENST00000379068.3_Silent_p.K994K	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	988					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.K988K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGCATACGAAAGAGATGGTAC	0.279																																																1	Substitution - coding silent(1)	ovary(1)	X											125	108	114					X																	24828032		2202	4297	6499	24737953	SO:0001819	synonymous_variant	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2964A>G	X.37:g.24828032A>G			24737953	Q86UQ7	Silent	SNP	ENST00000379059.3	37	CCDS14214.1																																																																																				0.279	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		G	24828032	A	G	24828032	2	3	113	1	0	0	0	0	0	0	0	1	12187	69	3	4		4	POLA1	23	24828032	Silent	SNP	A	TCGA-13-0913-01A-01W-0420-08		24828032	130442528	74	6093											
CLCN5	1184	broad.mit.edu	37	X	49856792	49856792	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chrX:49856792G>T	ENST00000307367.2	+	12	2448	c.2157G>T	c.(2155-2157)ttG>ttT	p.L719F	CLCN5_ENST00000376091.3_Missense_Mutation_p.L789F|CLCN5_ENST00000376088.3_Missense_Mutation_p.L789F|CLCN5_ENST00000376108.3_Missense_Mutation_p.L719F			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	719	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.L719F(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TTAGGCGATTGCTTGGAATCA	0.358																																																1	Substitution - Missense(1)	ovary(1)	X											116	92	100					X																	49856792		2203	4300	6503	49743532	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.2157G>T	X.37:g.49856792G>T	ENSP00000304257:p.Leu719Phe		49743532	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428859	0.43122	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	5.42	0.286	0.15710	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.87578	0.887;0.998	D	0.94470	0.7684	10	0.52906	T	0.07	-29.8833	5.3095	0.15823	0.3575:0.2297:0.4128:0.0	.	719;789	P51795;P51795-2	CLCN5_HUMAN;.	F	789;621;789;719;719	ENSP00000365256:L789F;ENSP00000365259:L789F;ENSP00000365276:L719F;ENSP00000304257:L719F	ENSP00000304257:L719F	L	+	3	2	CLCN5	49743532	0.013000	0.17824	0.954000	0.39281	0.997000	0.91878	-1.053000	0.03500	0.193000	0.20303	0.513000	0.50165	TTG		0.358	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			T	49856792	G	T	49856792	3	4	113	1	0	0	0	0	1	0	0	0	3466	1310	46	3	2417	3	CLCN5	23	49856792	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	25028760	49856792	105413768	75	6094											
FGD1	2245	broad.mit.edu	37	X	54482211	54482211	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chrX:54482211C>T	ENST00000375135.3	-	11	2582	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	617	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D617N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGAGGCGGTCGTTGAACTAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											41	39	40					X																	54482211		2195	4283	6478	54498936	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1849G>A	X.37:g.54482211C>T	ENSP00000364277:p.Asp617Asn		54498936	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864891	0.32977	.	.	ENSG00000102302	ENST00000375135	D	0.88586	-2.4	5.08	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.53938	D	0.000046	T	0.78336	0.4267	N	0.14661	0.345	0.48040	D	0.999578	B;B	0.32040	0.286;0.353	B;B	0.32533	0.147;0.131	T	0.76072	-0.3093	10	0.02654	T	1	-1.4559	16.2729	0.82629	0.0:1.0:0.0:0.0	.	375;617	B4DS99;P98174	.;FGD1_HUMAN	N	617	ENSP00000364277:D617N	ENSP00000364277:D617N	D	-	1	0	FGD1	54498936	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	1.808000	0.38912	2.360000	0.80028	0.600000	0.82982	GAC		0.552	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		T	54482211	C	T	54482211	3	4	113	1	0	0	0	0	1	0	0	0	5832	884	31	1	1068	1	FGD1	23	54482211	Missense_Mutation	SNP	C	TCGA-13-0913-01A-01W-0420-08	4625419	54482211	100788349	76	6095											
FAM123B	139285	broad.mit.edu	37	X	63410074	63410074	+	Silent	SNP	G	G	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chrX:63410074G>C	ENST00000330258.3	-	2	3365	c.3093C>G	c.(3091-3093)ggC>ggG	p.G1031G	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1031	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TATAGCAAGGGCCCATGGGCA	0.572																																																67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	X											34	40	38					X																	63410074		2074	4182	6256	63326799	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3093C>G	X.37:g.63410074G>C			63326799	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																				0.572	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		C	63410074	G	C	63410074	2	2	113	1	0	0	0	0	0	0	0	1	5423	1190	42	3		3	FAM123B	23	63410074	Silent	SNP	G	TCGA-13-0913-01A-01W-0420-08	8927863	63410074	91860486	77	6096											
ACRC	93953	broad.mit.edu	37	X	70828950	70828950	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chrX:70828950T>A	ENST00000373695.1	+	9	2131	c.1594T>A	c.(1594-1596)Tcc>Acc	p.S532T	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.S532T			Q96QF7	ACRC_HUMAN	acidic repeat containing	532	SprT-like.					nucleus (GO:0005634)		p.S532T(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTTTAACAGATCCGTCTGTGA	0.388																																																1	Substitution - Missense(1)	ovary(1)	X											63	53	56					X																	70828950		2203	4300	6503	70745675	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1594T>A	X.37:g.70828950T>A	ENSP00000362799:p.Ser532Thr		70745675	B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	T	8.051	0.766014	0.15983	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.40756	1.02;1.02	4.81	-1.12	0.09808	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.25306	0.0615	N	0.11364	0.135	0.09310	N	1	B	0.24882	0.113	B	0.33254	0.16	T	0.36648	-0.9739	9	0.37606	T	0.19	.	9.7292	0.40350	0.7307:0.0:0.0:0.2693	.	532	Q96QF7	ACRC_HUMAN	T	532	ENSP00000362800:S532T;ENSP00000362799:S532T	ENSP00000362799:S532T	S	+	1	0	ACRC	70745675	0.020000	0.18652	0.003000	0.11579	0.006000	0.05464	0.525000	0.22956	-0.104000	0.12154	-0.799000	0.03217	TCC		0.388	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			A	70828950	T	A	70828950	3	1	113	1	0	0	0	0	1	0	0	0	171	1435	50	5	1628	5	ACRC	23	70828950	Missense_Mutation	SNP	T	TCGA-13-0913-01A-01W-0420-08	7418876	70828950	84441610	78	6097											
ARMCX2	9823	broad.mit.edu	37	X	100911606	100911628	+	Frame_Shift_Del	DEL	GGCTGCAGCAGCTGCTGCAGCCC	GGCTGCAGCAGCTGCTGCAGCCC	-			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	GGCTGCAGCAGCTGCTGCAGCCC	GGCTGCAGCAGCTGCTGCAGCCC	-	-	GGCTGCAGCAGCTGCTGCAGCCC	GGCTGCAGCAGCTGCTGCAGCCC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chrX:100911606_100911628delGGCTGCAGCAGCTGCTGCAGCCC	ENST00000328766.5	-	5	1400_1422	c.947_969delGGGCTGCAGCAGCTGCTGCAGCC	c.(946-969)ggggctgcagcagctgctgcagccfs	p.GAAAAAAA316fs	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Frame_Shift_Del_p.GAAAAAAA316fs|ARMCX2_ENST00000330154.2_Frame_Shift_Del_p.GAAAAAAA316fs	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	316						integral component of membrane (GO:0016021)		p.G316fs*3(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CATTAGCAGAGGCTGCAGCAGCTGCTGCAGCCCCATCTCCAGG	0.592																																																1	Deletion - Frameshift(1)	ovary(1)	X																																								100798284	SO:0001589	frameshift_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.947_969delGGGCTGCAGCAGCTGCTGCAGCC	X.37:g.100911606_100911628delGGCTGCAGCAGCTGCTGCAGCCC	ENSP00000331662:p.Gly316fs		100798262	O60267|Q5H9D9	Frame_Shift_Del	DEL	ENST00000328766.5	37	CCDS14490.1																																																																																				0.592	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		-	100911628	GGCTGCAGCAGCTGCTGCAGCCC	-	100911606	7	5	113	1	0	1	0	1	0	0	0	0	960	987	35	0	933	0	ARMCX2	23	100911606	Frame_Shift_Del	DEL	GGCTGCAGCAGCTGCTGCAGCCC	TCGA-13-0913-01A-01W-0420-08	30082656	100911606	54358954	79	6098											
PAK3	5063	broad.mit.edu	37	X	110437553	110437553	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chrX:110437553G>T	ENST00000372010.1	+	15	1504	c.1062G>T	c.(1060-1062)tgG>tgT	p.W354C	PAK3_ENST00000372007.5_Missense_Mutation_p.W339C|PAK3_ENST00000519681.1_Missense_Mutation_p.W360C|PAK3_ENST00000518291.1_Missense_Mutation_p.W375C|PAK3_ENST00000417227.1_Missense_Mutation_p.W360C|PAK3_ENST00000360648.4_Missense_Mutation_p.W375C|PAK3_ENST00000446737.1_Missense_Mutation_p.W339C|PAK3_ENST00000262836.4_Missense_Mutation_p.W354C|PAK3_ENST00000425146.1_Missense_Mutation_p.W339C			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	354	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.W339C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATGAACTATGGGTAGTCATGG	0.463										TSP Lung(19;0.15)																																						1	Substitution - Missense(1)	ovary(1)	X											268	224	239					X																	110437553		2203	4300	6503	110324209	SO:0001583	missense	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1062G>T	X.37:g.110437553G>T	ENSP00000361080:p.Trp354Cys		110324209	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273165	0.59649	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	4.85	3.98	0.46160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063541	0.64402	D	0.000002	T	0.71341	0.3328	L	0.43646	1.37	0.80722	D	1	D;D;D;D;D	0.89917	0.991;1.0;0.998;1.0;0.998	D;D;D;D;D	0.91635	0.934;0.998;0.982;0.999;0.982	T	0.73232	-0.4048	10	0.87932	D	0	.	12.5617	0.56286	0.0835:0.0:0.9165:0.0	.	360;375;354;339;354	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	C	339;339;354;360;339;375;375;360;354	ENSP00000410853:W339C;ENSP00000401982:W339C;ENSP00000361080:W354C;ENSP00000429113:W360C;ENSP00000361077:W339C;ENSP00000428921:W375C;ENSP00000353864:W375C;ENSP00000389172:W360C;ENSP00000262836:W354C	ENSP00000262836:W354C	W	+	3	0	PAK3	110324209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.240000	0.78192	0.950000	0.37743	0.600000	0.82982	TGG		0.463	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		T	110437553	G	T	110437553	3	4	113	1	0	0	0	0	1	0	0	0	11402	1241	43	3	1171	3	PAK3	23	110437553	Missense_Mutation	SNP	G	TCGA-13-0913-01A-01W-0420-08	9525947	110437553	44833007	80	6099											
IGSF1	3547	broad.mit.edu	37	X	130417181	130417181	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0913-01A-01W-0420-08	TCGA-13-0913-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d2d97613-b6e5-439f-8a94-f6a7b0527bb0	279308ab-f861-4610-861c-101455a72c83	g.chrX:130417181T>C	ENST00000361420.3	-	6	804	c.725A>G	c.(724-726)gAa>gGa	p.E242G	IGSF1_ENST00000370903.3_Missense_Mutation_p.E242G|IGSF1_ENST00000370904.1_Missense_Mutation_p.E233G|IGSF1_ENST00000370910.1_Missense_Mutation_p.E233G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	242	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.E242G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ATTCAGGCTTTCTCCAGGTGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											71	68	69					X																	130417181		2203	4300	6503	130244862	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.725A>G	X.37:g.130417181T>C	ENSP00000355010:p.Glu242Gly		130244862	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698007	0.68386	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00832	5.64;5.64;5.64;5.64	4.46	4.46	0.54185	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.277746	0.25938	N	0.027339	T	0.02455	0.0075	L	0.35793	1.09	0.35336	D	0.786059	D;D	0.69078	0.99;0.997	D;D	0.79108	0.917;0.992	T	0.64188	-0.6466	10	0.33940	T	0.23	.	9.2408	0.37495	0.0:0.0:0.0:1.0	.	233;242	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	G	233;242;233;242	ENSP00000359947:E233G;ENSP00000355010:E242G;ENSP00000359941:E233G;ENSP00000359940:E242G	ENSP00000355010:E242G	E	-	2	0	IGSF1	130244862	0.495000	0.26051	1.000000	0.80357	0.997000	0.91878	1.319000	0.33655	1.782000	0.52362	0.481000	0.45027	GAA		0.473	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			C	130417181	T	C	130417181	3	2	113	1	0	0	0	0	1	0	0	0	7596	1783	62	4	3360	4	IGSF1	23	130417181	Missense_Mutation	SNP	T	TCGA-13-0913-01A-01W-0420-08	19979628	130417181	24853379	81	6100											
CA6	765	broad.mit.edu	37	1	9017331	9017331	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:9017331G>C	ENST00000377443.2	+	3	399	c.395G>C	c.(394-396)aGa>aCa	p.R132T	CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Missense_Mutation_p.R132T|CA6_ENST00000377442.2_Missense_Mutation_p.R72T	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	132					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.R132T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GACGGGATCAGACATGTGATC	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											77	70	73					1																	9017331		2203	4300	6503	8939918	SO:0001583	missense	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.395G>C	1.37:g.9017331G>C	ENSP00000366662:p.Arg132Thr		8939918	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890681	0.72524	.	.	ENSG00000131686	ENST00000549778;ENST00000377443;ENST00000377436;ENST00000377442	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	4.95	4.95	0.65309	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.048119	0.85682	D	0.000000	T	0.81293	0.4792	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82849	-0.0254	10	0.62326	D	0.03	.	14.4235	0.67200	0.0:0.0:1.0:0.0	.	72;132	E7EMQ1;P23280	.;CAH6_HUMAN	T	100;132;132;72	ENSP00000447108:R100T;ENSP00000366662:R132T;ENSP00000366654:R132T;ENSP00000366661:R72T	ENSP00000366654:R132T	R	+	2	0	CA6	8939918	0.982000	0.34865	0.014000	0.15608	0.110000	0.19582	7.751000	0.85126	2.660000	0.90430	0.650000	0.86243	AGA		0.512	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			C	9017331	G	C	9017331	3	2	114	1	0	0	0	0	1	0	0	0	2521	942	33	3	405	3	CA6	1	9017331	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08		9017331	240233290	1	6101											
COL16A1	1307	broad.mit.edu	37	1	32163561	32163561	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:32163561C>A	ENST00000373672.3	-	6	1119	c.603G>T	c.(601-603)agG>agT	p.R201S	COL16A1_ENST00000373668.3_Missense_Mutation_p.R201S|COL16A1_ENST00000271069.6_Missense_Mutation_p.R201S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	201	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.R201S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGCCCACAGGCCTCATGGGTC	0.622																																					Colon(143;498 1786 21362 25193 36625)											1	Substitution - Missense(1)	ovary(1)	1											36	41	39					1																	32163561		2016	4183	6199	31936148	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.603G>T	1.37:g.32163561C>A	ENSP00000362776:p.Arg201Ser		31936148	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	6.222	0.409080	0.11812	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.72051	-0.62;-0.62;-0.62	5.14	3.15	0.36227	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.941157	0.08913	N	0.875589	T	0.43964	0.1271	N	0.03608	-0.345	0.09310	N	1	P;B;B	0.41188	0.741;0.002;0.003	B;B;B	0.36289	0.221;0.004;0.009	T	0.30327	-0.9982	10	0.54805	T	0.06	.	5.1068	0.14789	0.1268:0.566:0.2236:0.0836	.	201;201;201	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	201	ENSP00000362776:R201S;ENSP00000271069:R201S;ENSP00000362772:R201S	ENSP00000271069:R201S	R	-	3	2	COL16A1	31936148	0.000000	0.05858	0.054000	0.19295	0.096000	0.18686	-0.097000	0.11042	1.310000	0.45006	0.561000	0.74099	AGG		0.622	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		A	32163561	C	A	32163561	3	1	114	1	0	0	0	0	1	0	0	0	3673	738	26	3	4475	3	COL16A1	1	32163561	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	23146230	32163561	217087060	2	6102											
FOXJ3	22887	broad.mit.edu	37	1	42693625	42693625	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:42693625C>A	ENST00000372572.1	-	7	768	c.457G>T	c.(457-459)Gca>Tca	p.A153S	FOXJ3_ENST00000361346.1_Missense_Mutation_p.A153S|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A153S|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A153S|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A153S	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	153					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A153S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGTCTATTGCCCAGTAGGAC	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											84	76	78					1																	42693625		2203	4300	6503	42466212	SO:0001583	missense	22887			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.457G>T	1.37:g.42693625C>A	ENSP00000361653:p.Ala153Ser		42466212	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138290	0.56936	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75;-3.75	5.68	4.78	0.61160	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.058247	0.64402	D	0.000004	D	0.92270	0.7548	L	0.33245	0.995	0.80722	D	1	P;P	0.46142	0.737;0.873	B;B	0.43658	0.234;0.426	D	0.91262	0.5037	10	0.41790	T	0.15	.	12.4168	0.55498	0.0:0.9185:0.0:0.0815	.	153;153	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	S	153	ENSP00000361654:A153S;ENSP00000361653:A153S;ENSP00000354620:A153S;ENSP00000354449:A153S;ENSP00000439044:A153S;ENSP00000393408:A153S	ENSP00000354620:A153S	A	-	1	0	FOXJ3	42466212	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.184000	0.72008	1.399000	0.46721	-0.136000	0.14681	GCA		0.378	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		A	42693625	C	A	42693625	3	1	114	1	0	0	0	0	1	0	0	0	6013	739	26	3	1447	3	FOXJ3	1	42693625	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	10530064	42693625	206556996	3	6103											
C8A	731	broad.mit.edu	37	1	57340626	57340626	+	Missense_Mutation	SNP	G	G	A	rs369702409	byFrequency	TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:57340626G>A	ENST00000361249.3	+	3	272	c.176G>A	c.(175-177)cGa>cAa	p.R59Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	59	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.R59Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTTTAGTACCGACACCGGAGC	0.458													G|||	12	0.00239617	0	0	5008	,	,		20285	0		0	False		,,,				2504	0.0123															1	Substitution - Missense(1)	ovary(1)	1											66	65	65					1																	57340626		2203	4300	6503	57113214	SO:0001583	missense	731			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.176G>A	1.37:g.57340626G>A	ENSP00000354458:p.Arg59Gln		57113214	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012882	0.93346	.	.	ENSG00000157131	ENST00000361249	T	0.48522	0.81	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.79799	0.4508	H	0.96691	3.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.86171	0.1600	10	0.87932	D	0	-12.767	17.5773	0.87953	0.0:0.0:1.0:0.0	.	59	P07357	CO8A_HUMAN	Q	59	ENSP00000354458:R59Q	ENSP00000354458:R59Q	R	+	2	0	C8A	57113214	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.906000	0.56340	2.820000	0.97059	0.650000	0.86243	CGA		0.458	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		A	57340626	G	A	57340626	3	1	114	1	0	0	0	0	1	0	0	0	2416	1058	37	1	186	1	C8A	1	57340626	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	14647001	57340626	191909995	4	6104											
MAGI3	260425	broad.mit.edu	37	1	114201761	114201761	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:114201761C>G	ENST00000307546.9	+	16	2764	c.2689C>G	c.(2689-2691)Ctg>Gtg	p.L897V	MAGI3_ENST00000369615.1_Missense_Mutation_p.L897V|MAGI3_ENST00000369611.4_Missense_Mutation_p.L897V|MAGI3_ENST00000369617.4_Missense_Mutation_p.L922V	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	922	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.L897V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGGAAAACTGAAAGTTGG	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											145	139	141					1																	114201761		2203	4300	6503	114003284	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2689C>G	1.37:g.114201761C>G	ENSP00000304604:p.Leu897Val		114003284	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694091	0.68386	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	6.17	4.31	0.51392	.	0.000000	0.64402	D	0.000001	T	0.51312	0.1667	L	0.52823	1.66	0.58432	D	0.999999	P;B;D	0.55800	0.76;0.341;0.973	P;B;D	0.65987	0.704;0.441;0.94	T	0.57653	-0.7774	10	0.87932	D	0	-16.2086	12.9426	0.58354	0.0:0.8699:0.0:0.1301	.	897;897;922	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	V	922;897;897;897	ENSP00000358630:L922V;ENSP00000304604:L897V;ENSP00000358628:L897V;ENSP00000358624:L897V	ENSP00000304604:L897V	L	+	1	2	MAGI3	114003284	0.987000	0.35691	0.791000	0.31998	0.982000	0.71751	1.417000	0.34770	0.940000	0.37473	0.655000	0.94253	CTG		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		G	114201761	C	G	114201761	3	3	114	1	0	0	0	0	1	0	0	0	9192	564	20	3	2751	3	MAGI3	1	114201761	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	56861135	114201761	135048860	5	6105											
TDRKH	11022	broad.mit.edu	37	1	151755434	151755434	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:151755434C>A	ENST00000368822.1	-	2	698	c.65G>T	c.(64-66)gGg>gTg	p.G22V	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.G22V|TDRKH_ENST00000368825.3_Missense_Mutation_p.G22V|TDRKH_ENST00000368823.1_Missense_Mutation_p.G22V|TDRKH_ENST00000368827.6_Missense_Mutation_p.G22V|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.G22V			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	22					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)	p.G22V(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCTGGGATCCCAAGGCCCAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											108	111	110					1																	151755434		1859	4091	5950	150022058	SO:0001583	missense	11022			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.65G>T	1.37:g.151755434C>A	ENSP00000357812:p.Gly22Val		150022058	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915045	0.72983	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000526378	T;T;T;T;T;T;T	0.58652	1.49;1.0;1.49;1.51;1.49;1.49;0.32	5.36	4.43	0.53597	.	0.171432	0.51477	D	0.000086	T	0.46034	0.1372	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	P;D;D	0.91635	0.861;0.999;0.96	T	0.56902	-0.7902	10	0.87932	D	0	-18.5438	10.2625	0.43436	0.0:0.9084:0.0:0.0916	.	22;22;22	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	V	22	ENSP00000357819:G22V;ENSP00000357817:G22V;ENSP00000357815:G22V;ENSP00000357813:G22V;ENSP00000357812:G22V;ENSP00000395718:G22V;ENSP00000431557:G22V	ENSP00000357812:G22V	G	-	2	0	TDRKH	150022058	1.000000	0.71417	0.911000	0.35937	0.771000	0.43674	3.464000	0.53057	2.814000	0.96858	0.650000	0.86243	GGG		0.463	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		A	151755434	C	A	151755434	3	1	114	1	0	0	0	0	1	0	0	0	15737	623	22	3	1668	3	TDRKH	1	151755434	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	37553673	151755434	97495187	6	6106											
TNN	63923	broad.mit.edu	37	1	175097258	175097258	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:175097258G>A	ENST00000239462.4	+	14	3249	c.3136G>A	c.(3136-3138)Ggt>Agt	p.G1046S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1046	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.G1046S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGCCTTTAAGGGTGGTCGCCG	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											93	80	85					1																	175097258		2203	4300	6503	173363881	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3136G>A	1.37:g.175097258G>A	ENSP00000239462:p.Gly1046Ser		173363881	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562852	0.86335	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.60548	0.18	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81265	-0.1011	10	0.56958	D	0.05	.	19.6093	0.95599	0.0:0.0:1.0:0.0	.	1046	Q9UQP3	TENN_HUMAN	S	1046;869	ENSP00000239462:G1046S	ENSP00000239462:G1046S	G	+	1	0	TNN	173363881	1.000000	0.71417	0.994000	0.49952	0.367000	0.29736	7.371000	0.79600	2.740000	0.93945	0.313000	0.20887	GGT		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		A	175097258	G	A	175097258	3	1	114	1	0	0	0	0	1	0	0	0	16323	1232	43	2	3186	2	TNN	1	175097258	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	23341824	175097258	74153363	7	6107											
CRB1	23418	broad.mit.edu	37	1	197390742	197390742	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:197390742C>G	ENST00000367400.3	+	6	1919	c.1784C>G	c.(1783-1785)gCt>gGt	p.A595G	CRB1_ENST00000544212.1_Missense_Mutation_p.A76G|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.A595G|CRB1_ENST00000535699.1_Missense_Mutation_p.A526G|CRB1_ENST00000367399.2_Missense_Mutation_p.A483G|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	595	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A595G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCGCGAAAGCTCCTACTCCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											120	113	115					1																	197390742		2203	4300	6503	195657365	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1784C>G	1.37:g.197390742C>G	ENSP00000356370:p.Ala595Gly		195657365	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	9.834	1.189268	0.21954	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.39	2.51	0.30379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.77130	0.4085	L	0.56769	1.78	0.09310	N	1	D;P;P;B;P	0.54964	0.969;0.644;0.887;0.386;0.846	P;B;B;B;B	0.52481	0.7;0.307;0.335;0.178;0.41	T	0.65014	-0.6271	9	0.02654	T	1	.	5.8379	0.18617	0.0:0.634:0.1383:0.2277	.	595;526;483;244;595	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	G	526;595;595;483;76;244	ENSP00000438786:A526G;ENSP00000438091:A595G;ENSP00000356370:A595G;ENSP00000356369:A483G;ENSP00000444556:A76G	ENSP00000356369:A483G	A	+	2	0	CRB1	195657365	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.552000	0.23376	0.268000	0.21939	0.557000	0.71058	GCT		0.463	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		G	197390742	C	G	197390742	3	3	114	1	0	0	0	0	1	0	0	0	3848	797	28	3	1806	3	CRB1	1	197390742	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	22293484	197390742	51859879	8	6108											
PROX1	5629	broad.mit.edu	37	1	214170701	214170701	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:214170701T>A	ENST00000366958.4	+	2	1431	c.823T>A	c.(823-825)Tct>Act	p.S275T	PROX1_ENST00000261454.4_Missense_Mutation_p.S275T|PROX1_ENST00000498508.2_Missense_Mutation_p.S275T|PROX1_ENST00000435016.1_Missense_Mutation_p.S275T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	275					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S275T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGGTAACCTGTCTGAAGACAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											64	64	64					1																	214170701		2203	4300	6503	212237324	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.823T>A	1.37:g.214170701T>A	ENSP00000355925:p.Ser275Thr		212237324	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757098	0.49468	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.51574	0.72;0.7;0.72;0.72	5.93	5.93	0.95920	.	0.058374	0.85682	D	0.000000	T	0.59004	0.2162	L	0.33485	1.01	0.58432	D	0.999999	D	0.63046	0.992	D	0.76071	0.987	T	0.57985	-0.7716	10	0.42905	T	0.14	-3.6659	16.3766	0.83401	0.0:0.0:0.0:1.0	.	275	Q92786	PROX1_HUMAN	T	275	ENSP00000420283:S275T;ENSP00000355925:S275T;ENSP00000400694:S275T;ENSP00000261454:S275T	ENSP00000261454:S275T	S	+	1	0	PROX1	212237324	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.841000	0.86834	2.263000	0.75096	0.533000	0.62120	TCT		0.512	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		A	214170701	T	A	214170701	3	1	114	1	0	0	0	0	1	0	0	0	12563	1667	58	5	825	5	PROX1	1	214170701	Missense_Mutation	SNP	T	TCGA-13-0916-01A-01W-0420-08	16779959	214170701	35079920	9	6109											
OR2T6	254879	broad.mit.edu	37	1	248551173	248551173	+	Silent	SNP	C	C	T	rs151042656	byFrequency	TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr1:248551173C>T	ENST00000355728.2	+	1	264	c.264C>T	c.(262-264)ggC>ggT	p.G88G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G88G(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTCATGGGCGAGGGGACCA	0.527													c|||	3	0.000599042	0.0023	0	5008	,	,		18684	0		0	False		,,,				2504	0															2	Substitution - coding silent(2)	ovary(1)|lung(1)	1						C		11,4395	17.9+/-39.9	0,11,2192	153	134	140		264	-2.5	0	1	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	OR2T6	NM_001005471.1		0,11,6492	TT,TC,CC		0.0,0.2497,0.0846		88/309	248551173	11,12995	2203	4300	6503	246617796	SO:0001819	synonymous_variant	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.264C>T	1.37:g.248551173C>T			246617796	A6NE36	Silent	SNP	ENST00000355728.2	37	CCDS31114.1																																																																																				0.527	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		T	248551173	C	T	248551173	2	4	114	1	0	0	0	0	0	0	0	1	11029	755	27	1		1	OR2T6	1	248551173	Silent	SNP	C	TCGA-13-0916-01A-01W-0420-08	34380472	248551173	699448	10	6110											
OSR1	130497	broad.mit.edu	37	2	19552055	19552055	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr2:19552055G>T	ENST00000272223.2	-	3	1126	c.782C>A	c.(781-783)aCc>aAc	p.T261N	OSR1_ENST00000536433.1_Missense_Mutation_p.T261N	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	261					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T261N(1)		breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GATCTTGGAGGTTTTGAGCTC	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											141	130	134					2																	19552055		2203	4300	6503	19415536	SO:0001583	missense	130497			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.782C>A	2.37:g.19552055G>T	ENSP00000272223:p.Thr261Asn		19415536	B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	37	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291220	0.40494	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.52983	0.64;0.64	5.01	3.01	0.34805	.	0.263399	0.43747	D	0.000537	T	0.28034	0.0691	N	0.16656	0.425	0.25857	N	0.983876	B	0.29508	0.246	B	0.27608	0.081	T	0.13818	-1.0495	9	.	.	.	-6.4553	10.6251	0.45502	0.0845:0.1391:0.7763:0.0	.	261	Q8TAX0	OSR1_HUMAN	N	261	ENSP00000272223:T261N;ENSP00000441801:T261N	.	T	-	2	0	OSR1	19415536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.620000	0.61226	1.300000	0.44818	0.561000	0.74099	ACC		0.552	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		T	19552055	G	T	19552055	3	4	114	1	0	0	0	0	1	0	0	0	11293	1261	44	3	22	3	OSR1	2	19552055	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08		19552055	223647318	11	6111											
GALNT13	114805	broad.mit.edu	37	2	155252586	155252586	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr2:155252586C>A	ENST00000392825.3	+	10	1807	c.1240C>A	c.(1240-1242)Cta>Ata	p.L414I	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.L414I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	414					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L414I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTCTTGGTACCTAGAAAACAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											91	92	91					2																	155252586		2203	4300	6503	154960832	SO:0001583	missense	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1240C>A	2.37:g.155252586C>A	ENSP00000376570:p.Leu414Ile		154960832	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.871332|3.871332	0.72065|0.72065	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000392825;ENST00000409237|ENST00000450838	D;D|.	0.83163|.	-1.69;-1.69|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.72851|0.72851	0.3512|0.3512	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.69078|.	0.984;0.936;0.997;0.936|.	D;D;D;D|.	0.72338|.	0.958;0.966;0.96;0.977|.	T|T	0.73920|0.73920	-0.3830|-0.3830	10|5	0.52906|.	T|.	0.07|.	.|.	10.8715|10.8715	0.46885|0.46885	0.0:0.9121:0.0:0.0879|0.0:0.9121:0.0:0.0879	.|.	414;414;414;414|.	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8|.	.;.;.;GLT13_HUMAN|.	I|H	414|32	ENSP00000376570:L414I;ENSP00000387239:L414I|.	ENSP00000376570:L414I|.	L|P	+|+	1|2	2|0	GALNT13|GALNT13	154960832|154960832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.470000|2.470000	0.45119|0.45119	2.492000|2.492000	0.84095|0.84095	0.650000|0.650000	0.86243|0.86243	CTA|CCT		0.353	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		A	155252586	C	A	155252586	3	1	114	1	0	0	0	0	1	0	0	0	6211	680	24	3	1270	3	GALNT13	2	155252586	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	135700531	155252586	87946787	12	6112											
ZNF804A	91752	broad.mit.edu	37	2	185800773	185800773	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr2:185800773C>A	ENST00000302277.6	+	4	1244	c.650C>A	c.(649-651)gCa>gAa	p.A217E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	217							metal ion binding (GO:0046872)	p.A217E(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTTCTTTTGCATTTCCAAAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											66	67	67					2																	185800773		2203	4300	6503	185509018	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.650C>A	2.37:g.185800773C>A	ENSP00000303252:p.Ala217Glu		185509018	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628400	0.87560	.	.	ENSG00000170396	ENST00000302277	T	0.09073	3.02	5.32	5.32	0.75619	.	0.000000	0.53938	D	0.000043	T	0.27241	0.0668	L	0.56769	1.78	0.48696	D	0.999696	D	0.89917	1.0	D	0.77004	0.989	T	0.00458	-1.1727	10	0.87932	D	0	-15.9969	17.9814	0.89143	0.0:1.0:0.0:0.0	.	217	Q7Z570	Z804A_HUMAN	E	217	ENSP00000303252:A217E	ENSP00000303252:A217E	A	+	2	0	ZNF804A	185509018	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.202000	0.77856	2.490000	0.84030	0.467000	0.42956	GCA		0.428	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185800773	C	A	185800773	3	1	114	1	0	0	0	0	1	0	0	0	18170	710	25	3	664	3	ZNF804A	2	185800773	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	30548187	185800773	57398600	13	6113											
ANKRD44	91526	broad.mit.edu	37	2	197951416	197951416	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr2:197951416T>A	ENST00000328737.2	-	13	1305	c.1229A>T	c.(1228-1230)gAc>gTc	p.D410V	ANKRD44_ENST00000539527.1_Missense_Mutation_p.D363V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.D410V|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000409153.1_Missense_Mutation_p.D435V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.D427V|ANKRD44_ENST00000450567.1_Missense_Mutation_p.D410V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	435								p.D410V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCCACACTTGTCCTTTTTATG	0.383																																																1	Substitution - Missense(1)	ovary(1)	2											166	148	154					2																	197951416		2203	4300	6503	197659661	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1229A>T	2.37:g.197951416T>A	ENSP00000331516:p.Asp410Val		197659661	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	T	24.4	4.527164	0.85706	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T	0.77229	-0.5;-0.43;0.04;0.04;-0.43;-0.43;-1.08	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.94160	0.7413	10	0.72032	D	0.01	.	15.6414	0.77006	0.0:0.0:0.0:1.0	.	363;435;453	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	V	250;427;410;410;410;435;363	ENSP00000403415:D250V;ENSP00000282272:D427V;ENSP00000331516:D410V;ENSP00000402420:D410V;ENSP00000338794:D410V;ENSP00000387141:D435V;ENSP00000437825:D363V	ENSP00000282272:D427V	D	-	2	0	ANKRD44	197659661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.312000	0.78968	2.279000	0.76181	0.533000	0.62120	GAC		0.383	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		A	197951416	T	A	197951416	3	1	114	1	0	0	0	0	1	0	0	0	672	1667	58	5	1586	5	ANKRD44	2	197951416	Missense_Mutation	SNP	T	TCGA-13-0916-01A-01W-0420-08	12150643	197951416	45247957	14	6114											
MAP2	4133	broad.mit.edu	37	2	210560575	210560575	+	Silent	SNP	T	T	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr2:210560575T>A	ENST00000360351.4	+	7	4187	c.3681T>A	c.(3679-3681)tcT>tcA	p.S1227S	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.S1223S|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1227					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S1227S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CGATCGTATCTGAACCAGCAG	0.458																																					Pancreas(27;423 979 28787 29963)											1	Substitution - coding silent(1)	ovary(1)	2											62	66	65					2																	210560575		2203	4300	6503	210268820	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3681T>A	2.37:g.210560575T>A			210268820	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		A	210560575	T	A	210560575	2	1	114	1	0	0	0	0	0	0	0	1	9235	1567	55	5		5	MAP2	2	210560575	Silent	SNP	T	TCGA-13-0916-01A-01W-0420-08	12609159	210560575	32638798	15	6115											
CHDH	55349	broad.mit.edu	37	3	53852048	53852049	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	CA	CA	-	-	CA	CA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr3:53852048_53852049delCA	ENST00000315251.6	-	9	1977_1978	c.1540_1541delTG	c.(1540-1542)tgcfs	p.C514fs		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	514					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)	p.C514fs*3(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CTTACAGGTGCACGAGGGGTGG	0.594																																																1	Deletion - Frameshift(1)	ovary(1)	3																																								53827089	SO:0001589	frameshift_variant	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1540_1541delTG	3.37:g.53852048_53852049delCA	ENSP00000319851:p.Cys514fs		53827088	Q9NY17	Frame_Shift_Del	DEL	ENST00000315251.6	37	CCDS2873.1																																																																																				0.594	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		-	53852049	CA	-	53852048	7	5	114	1	0	1	0	1	0	0	0	0	3333	710	25	0	247	0	CHDH	3	53852048	Frame_Shift_Del	DEL	CA	TCGA-13-0916-01A-01W-0420-08		53852048	144170382	16	6116											
PDZRN3	23024	broad.mit.edu	37	3	73434831	73434831	+	Missense_Mutation	SNP	C	C	G	rs563627189	byFrequency	TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr3:73434831C>G	ENST00000263666.4	-	9	1738	c.1624G>C	c.(1624-1626)Gtg>Ctg	p.V542L	PDZRN3_ENST00000466780.1_Missense_Mutation_p.V199L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.V259L|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.V199L|PDZRN3_ENST00000535920.1_Missense_Mutation_p.V264L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	542					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V542L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGCTGCAGCACGCTAGCTGTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	3											192	144	160					3																	73434831		2203	4300	6503	73517521	SO:0001583	missense	23024			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1624G>C	3.37:g.73434831C>G	ENSP00000263666:p.Val542Leu		73517521	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	2.469	-0.322284	0.05350	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.09350	2.99;3.68;3.57;3.57;3.69;3.69	5.58	2.52	0.30459	.	0.607998	0.17490	N	0.172377	T	0.05868	0.0153	L	0.29908	0.895	0.29707	N	0.839731	B;B;B;B	0.23650	0.0;0.089;0.0;0.043	B;B;B;B	0.18263	0.004;0.021;0.002;0.015	T	0.40384	-0.9566	10	0.08179	T	0.78	.	4.3572	0.11185	0.0:0.4177:0.1622:0.42	.	264;259;259;542	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	L	542;264;199;199;259;542;240	ENSP00000263666:V542L;ENSP00000442026:V264L;ENSP00000418168:V199L;ENSP00000418484:V199L;ENSP00000418624:V259L;ENSP00000419250:V240L	ENSP00000263666:V542L	V	-	1	0	PDZRN3	73517521	0.999000	0.42202	0.106000	0.21319	0.485000	0.33311	0.674000	0.25218	0.185000	0.20105	0.655000	0.94253	GTG		0.557	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		G	73434831	C	G	73434831	3	3	114	1	0	0	0	0	1	0	0	0	11709	536	19	3	1584	3	PDZRN3	3	73434831	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	19582783	73434831	124587599	17	6117											
C5orf42	65250	broad.mit.edu	37	5	37198855	37198855	+	Silent	SNP	T	T	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr5:37198855T>A	ENST00000508244.1	-	19	3714	c.3621A>T	c.(3619-3621)gtA>gtT	p.V1207V	C5orf42_ENST00000425232.2_Silent_p.V1207V|C5orf42_ENST00000274258.7_Silent_p.V88V			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1207						integral component of membrane (GO:0016021)		p.V88V(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACCACTGTGCTACAGGAAAAG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	5											94	96	95					5																	37198855		2203	4300	6503	37234612	SO:0001819	synonymous_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3621A>T	5.37:g.37198855T>A			37234612	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																				0.403	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		A	37198855	T	A	37198855	2	1	114	1	0	0	0	0	0	0	0	1	2301	1509	53	5		5	C5orf42	5	37198855	Silent	SNP	T	TCGA-13-0916-01A-01W-0420-08		37198855	143716405	18	6118											
PCDHB13	56123	broad.mit.edu	37	5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr5:140594357C>T	ENST00000341948.4	+	1	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.P221L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											97	104	102					5																	140594357		2203	4300	6503	140574541	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.662C>T	5.37:g.140594357C>T	ENSP00000345491:p.Pro221Leu		140574541	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.992937	0.93167	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.00792	5.69	3.51	2.6	0.31112	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06554	0.0168	H	0.95982	3.75	0.46478	D	0.999069	D	0.65815	0.995	D	0.71870	0.975	T	0.01162	-1.1432	9	0.66056	D	0.02	.	11.0844	0.48078	0.0:0.9018:0.0:0.0982	.	221	Q9Y5F0	PCDBD_HUMAN	L	221	ENSP00000345491:P221L	ENSP00000345491:P221L	P	+	2	0	PCDHB13	140574541	0.999000	0.42202	0.006000	0.13384	0.808000	0.45660	4.915000	0.63355	0.548000	0.28955	0.306000	0.20318	CCG		0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140594357	C	T	140594357	3	4	114	1	0	0	0	0	1	0	0	0	11538	652	23	1	664	1	PCDHB13	5	140594357	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	103395502	140594357	40320903	19	6119											
CDHR2	54825	broad.mit.edu	37	5	176003151	176003151	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr5:176003151G>A	ENST00000510636.1	+	12	1433	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	CDHR2_ENST00000261944.5_Missense_Mutation_p.D387N|CDHR2_ENST00000506348.1_Missense_Mutation_p.D387N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	387	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D387N(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CATCCCCATCGATGACCTCAC	0.657																																																1	Substitution - Missense(1)	ovary(1)	5											71	61	65					5																	176003151		2203	4300	6503	175935757	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1159G>A	5.37:g.176003151G>A	ENSP00000424565:p.Asp387Asn		175935757	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	1.387	-0.581838	0.03827	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56611	0.45;0.45;0.45	4.54	2.59	0.31030	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28995	0.0720	N	0.24115	0.695	0.09310	N	1	B	0.33494	0.414	B	0.26770	0.073	T	0.10753	-1.0616	9	0.12430	T	0.62	-7.5825	5.0119	0.14317	0.2026:0.0:0.6253:0.1721	.	387	Q9BYE9	CDHR2_HUMAN	N	387	ENSP00000424565:D387N;ENSP00000261944:D387N;ENSP00000421078:D387N	ENSP00000261944:D387N	D	+	1	0	CDHR2	175935757	0.007000	0.16637	0.011000	0.14972	0.019000	0.09904	1.325000	0.33724	1.139000	0.42245	0.549000	0.68633	GAT		0.657	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		A	176003151	G	A	176003151	3	1	114	1	0	0	0	0	1	0	0	0	3119	1058	37	1	1201	1	CDHR2	5	176003151	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	35408794	176003151	4912109	20	6120											
MAS1L	116511	broad.mit.edu	37	6	29455289	29455289	+	Silent	SNP	A	A	G			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr6:29455289A>G	ENST00000377127.3	-	1	449	c.391T>C	c.(391-393)Tta>Cta	p.L131L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	131					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L131L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GTCACCTGTAAGAACCCCACT	0.507																																					NSCLC(153;755 1987 3859 11251 32945)											1	Substitution - coding silent(1)	ovary(1)	6											65	61	62					6																	29455289		2203	4300	6503	29563268	SO:0001819	synonymous_variant	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.391T>C	6.37:g.29455289A>G			29563268	Q5SUN5	Silent	SNP	ENST00000377127.3	37	CCDS4661.1																																																																																				0.507	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		G	29455289	A	G	29455289	2	3	114	1	0	0	0	0	0	0	0	1	9321	69	3	4		4	MAS1L	6	29455289	Silent	SNP	A	TCGA-13-0916-01A-01W-0420-08		29455289	141659778	21	6121											
MDC1	9656	broad.mit.edu	37	6	30671996	30671996	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr6:30671996G>C	ENST00000376406.3	-	10	5611	c.4964C>G	c.(4963-4965)cCa>cGa	p.P1655R	MDC1_ENST00000376405.2_Missense_Mutation_p.P1391R|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1655					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.P1655R(1)		breast(2)|kidney(1)|ovary(1)	4						AGAGGCTGCTGGTTCAACTGG	0.547								Other conserved DNA damage response genes																																								1	Substitution - Missense(1)	ovary(1)	6											112	114	113					6																	30671996		2203	4300	6503	30779975	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4964C>G	6.37:g.30671996G>C	ENSP00000365588:p.Pro1655Arg		30779975	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516175	0.44763	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.21361	2.01;2.01	3.46	-0.5	0.12012	.	0.821650	0.09962	N	0.733274	T	0.21227	0.0511	M	0.72894	2.215	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.972	T	0.05162	-1.0902	10	0.48119	T	0.1	0.0436	2.822	0.05474	0.3524:0.0:0.4459:0.2018	.	1391;1655	Q14676-2;Q14676	.;MDC1_HUMAN	R	1655;1391;1368;1221	ENSP00000365588:P1655R;ENSP00000365587:P1391R	ENSP00000365587:P1391R	P	-	2	0	MDC1	30779975	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	0.039000	0.13884	-0.122000	0.11766	0.449000	0.29647	CCA		0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		C	30671996	G	C	30671996	3	2	114	1	0	0	0	0	1	0	0	0	9403	1348	47	3	1329	3	MDC1	6	30671996	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	1216707	30671996	140443071	22	6122											
TNXB	7148	broad.mit.edu	37	6	32053728	32053728	+	Missense_Mutation	SNP	C	C	A	rs138850364	byFrequency	TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr6:32053728C>A	ENST00000375244.3	-	7	3148	c.2947G>T	c.(2947-2949)Gcc>Tcc	p.A983S	TNXB_ENST00000375247.2_Missense_Mutation_p.A983S			P22105	TENX_HUMAN	tenascin XB	1070	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.A1070S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAGGCTGGGCGGTCCAGACC	0.687																																																1	Substitution - Missense(1)	ovary(1)	6											48	58	54					6																	32053728		1329	2563	3892	32161706	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2947G>T	6.37:g.32053728C>A	ENSP00000364393:p.Ala983Ser		32161706	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	C	16.18	3.051606	0.55218	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04758	3.56;3.56	3.89	2.99	0.34606	.	0.331049	0.21915	N	0.067244	T	0.03651	0.0104	L	0.34521	1.04	0.22500	N	0.999043	D	0.76494	0.999	D	0.80764	0.994	T	0.40997	-0.9533	10	0.16896	T	0.51	.	8.4092	0.32634	0.2336:0.7664:0.0:0.0	.	983	P22105-3	.	S	983	ENSP00000364393:A983S;ENSP00000364396:A983S	ENSP00000364393:A983S	A	-	1	0	TNXB	32161706	0.986000	0.35501	0.893000	0.35052	0.900000	0.52787	3.502000	0.53332	0.815000	0.34398	0.460000	0.39030	GCC		0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32053728	C	A	32053728	3	1	114	1	0	0	0	0	1	0	0	0	16346	768	27	3	11918	3	TNXB	6	32053728	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	1381732	32053728	139061339	23	6123											
SLC26A8	116369	broad.mit.edu	37	6	35987297	35987297	+	Splice_Site	SNP	C	C	G			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr6:35987297C>G	ENST00000490799.1	-	2	541	c.188G>C	c.(187-189)cGc>cCc	p.R63P	SLC26A8_ENST00000394602.2_Splice_Site_p.R63P|SLC26A8_ENST00000355574.2_Splice_Site_p.R63P	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.R63P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACACACGCACCGGCACTGGAC	0.517																																																1	Substitution - Missense(1)	ovary(1)	6											201	151	168					6																	35987297		2203	4300	6503	36095275	SO:0001630	splice_region_variant	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.188+1G>C	6.37:g.35987297C>G			36095275		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364300	0.61513	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.79	3.0	0.34707	.	0.596683	0.14408	N	0.321455	T	0.16896	0.0406	L	0.32530	0.975	0.33883	D	0.636368	D;D	0.65815	0.995;0.985	P;P	0.59221	0.854;0.813	T	0.04961	-1.0915	9	.	.	.	.	7.2081	0.25919	0.0:0.7988:0.0:0.2012	.	63;63	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	P	63;63;63;149	ENSP00000417638:R63P;ENSP00000378100:R63P;ENSP00000347778:R63P;ENSP00000420488:R149P	.	R	-	2	0	SLC26A8	36095275	0.986000	0.35501	0.975000	0.42487	0.752000	0.42762	0.717000	0.25851	0.736000	0.32559	0.650000	0.86243	CGC		0.517	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		Missense_Mutation	G	35987297	C	G	35987297	5	3	114	1	0	0	0	0	0	0	1	0	14526	666	23	3	2800	3	SLC26A8	6	35987297	Splice_Site	SNP	C	TCGA-13-0916-01A-01W-0420-08	3933569	35987297	135127770	24	6124											
TFAP2D	83741	broad.mit.edu	37	6	50718993	50718993	+	Silent	SNP	T	T	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr6:50718993T>C	ENST00000008391.3	+	7	1323	c.1095T>C	c.(1093-1095)acT>acC	p.T365T		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.T365T(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCAGACCCACTCCAATTCTAG	0.368																																																1	Substitution - coding silent(1)	ovary(1)	6											108	99	102					6																	50718993		2203	4299	6502	50826952	SO:0001819	synonymous_variant	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1095T>C	6.37:g.50718993T>C			50826952		Silent	SNP	ENST00000008391.3	37	CCDS4933.1																																																																																				0.368	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		C	50718993	T	C	50718993	2	2	114	1	0	0	0	0	0	0	0	1	15790	1538	54	4		4	TFAP2D	6	50718993	Silent	SNP	T	TCGA-13-0916-01A-01W-0420-08	14731696	50718993	120396074	25	6125											
GRIK2	2898	broad.mit.edu	37	6	102516286	102516286	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr6:102516286A>C	ENST00000421544.1	+	16	3117	c.2627A>C	c.(2626-2628)aAa>aCa	p.K876T	GRIK2_ENST00000369137.3_Missense_Mutation_p.K800T|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.K827T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	876					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.K876T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CGTCGGTTAAAACATAAGCCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											112	103	106					6																	102516286		2203	4300	6503	102622979	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2627A>C	6.37:g.102516286A>C	ENSP00000397026:p.Lys876Thr		102622979	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284552	0.80803	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.12465	2.68;2.83;2.69	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	M	0.68593	2.085	0.52501	D	0.999953	P	0.49783	0.928	P	0.48982	0.597	T	0.00681	-1.1612	10	0.49607	T	0.09	.	16.1296	0.81418	1.0:0.0:0.0:0.0	.	876	Q13002	GRIK2_HUMAN	T	876;800;827	ENSP00000397026:K876T;ENSP00000358133:K800T;ENSP00000358130:K827T	ENSP00000358130:K827T	K	+	2	0	GRIK2	102622979	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.216000	0.71823	0.379000	0.24179	AAA		0.408	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			C	102516286	A	C	102516286	3	2	114	1	0	0	0	0	1	0	0	0	6774	14	1	5	2862	5	GRIK2	6	102516286	Missense_Mutation	SNP	A	TCGA-13-0916-01A-01W-0420-08	51797293	102516286	68598781	26	6126											
L3MBTL3	84456	broad.mit.edu	37	6	130460796	130460825	+	In_Frame_Del	DEL	CATTGTTAAAATTATGAGCATTAAACTGGG	CATTGTTAAAATTATGAGCATTAAACTGGG	-			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	CATTGTTAAAATTATGAGCATTAAACTGGG	CATTGTTAAAATTATGAGCATTAAACTGGG	-	-	CATTGTTAAAATTATGAGCATTAAACTGGG	CATTGTTAAAATTATGAGCATTAAACTGGG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr6:130460796_130460825delCATTGTTAAAATTATGAGCATTAAACTGGG	ENST00000529410.1	+	25	2720_2749	c.2241_2270delCATTGTTAAAATTATGAGCATTAAACTGGG	c.(2239-2271)gacattgttaaaattatgagcattaaactgggc>gac	p.IVKIMSIKLG748del	L3MBTL3_ENST00000368139.2_In_Frame_Del_p.IVKIMSIKLG723del|RP11-73O6.3_ENST00000609978.1_RNA|L3MBTL3_ENST00000361794.2_In_Frame_Del_p.IVKIMSIKLG748del|L3MBTL3_ENST00000526019.1_In_Frame_Del_p.IVKIMSIKLG723del|L3MBTL3_ENST00000533560.1_In_Frame_Del_p.IVKIMSIKLG723del|RP11-73O6.3_ENST00000415964.1_RNA|RP11-73O6.3_ENST00000591297.1_RNA|L3MBTL3_ENST00000368136.2_In_Frame_Del_p.IVKIMSIKLG748del			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	748	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I748_G757del(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTCAAACAGACATTGTTAAAATTATGAGCATTAAACTGGGCCCTGCTCTC	0.357																																																1	Deletion - In frame(1)	ovary(1)	6																																								130502518	SO:0001651	inframe_deletion	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.2241_2270delCATTGTTAAAATTATGAGCATTAAACTGGG	6.37:g.130460796_130460825delCATTGTTAAAATTATGAGCATTAAACTGGG	ENSP00000431962:p.Ile748_Gly757del		130502489	Q4VXE1|Q5VUM9|Q6P9B5	In_Frame_Del	DEL	ENST00000529410.1	37	CCDS34537.1																																																																																				0.357	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		-	130460825	CATTGTTAAAATTATGAGCATTAAACTGGG	-	130460796	7	5	114	1	0	1	0	1	0	0	0	0	8593	477	17	0	2323	0	L3MBTL3	6	130460796	In_Frame_Del	DEL	CATTGTTAAAATTATGAGCATTAAACTGGG	TCGA-13-0916-01A-01W-0420-08	27944510	130460796	40654271	27	6127											
TNFAIP3	7128	broad.mit.edu	37	6	138202410	138202410	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr6:138202410A>G	ENST00000237289.4	+	9	2393	c.2327A>G	c.(2326-2328)aAc>aGc	p.N776S		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	776	Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.N776S(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCCAAGTGCAACGGCTACTGC	0.612			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	26	Whole gene deletion(25)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(25)|ovary(1)	6											76	83	81					6																	138202410		2202	4298	6500	138244103	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2327A>G	6.37:g.138202410A>G	ENSP00000237289:p.Asn776Ser		138244103	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110811	0.37242	.	.	ENSG00000118503	ENST00000237289	T	0.52526	0.66	5.67	2.0	0.26442	Zinc finger, A20-type (3);	0.251971	0.47455	N	0.000237	T	0.16300	0.0392	L	0.31926	0.97	0.35182	D	0.772551	B	0.06786	0.001	B	0.09377	0.004	T	0.03493	-1.1031	10	0.44086	T	0.13	-16.0584	7.848	0.29437	0.7552:0.0:0.2448:0.0	.	776	P21580	TNAP3_HUMAN	S	776	ENSP00000237289:N776S	ENSP00000237289:N776S	N	+	2	0	TNFAIP3	138244103	0.989000	0.36119	0.015000	0.15790	0.990000	0.78478	2.651000	0.46674	0.098000	0.17522	0.460000	0.39030	AAC		0.612	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			G	138202410	A	G	138202410	3	3	114	1	0	0	0	0	1	0	0	0	16274	43	2	4	2357	4	TNFAIP3	6	138202410	Missense_Mutation	SNP	A	TCGA-13-0916-01A-01W-0420-08	7741614	138202410	32912657	28	6128											
KCTD7	154881	broad.mit.edu	37	7	66104165	66104165	+	Silent	SNP	G	G	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr7:66104165G>C	ENST00000275532.3	+	4	1000	c.816G>C	c.(814-816)gtG>gtC	p.V272V	KCTD7_ENST00000443322.1_Silent_p.V272V	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	272					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V272V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGCACCTCGTGAACCACTACT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	7											90	72	78					7																	66104165		2203	4300	6503	65741600	SO:0001819	synonymous_variant	154881			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.816G>C	7.37:g.66104165G>C			65741600	A4D2M4|Q8IVR0	Silent	SNP	ENST00000275532.3	37	CCDS5534.1																																																																																				0.582	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		C	66104165	G	C	66104165	2	2	114	1	0	0	0	0	0	0	0	1	8114	1277	45	3		3	KCTD7	7	66104165	Silent	SNP	G	TCGA-13-0916-01A-01W-0420-08		66104165	93034498	29	6129											
CACNA2D1	781	broad.mit.edu	37	7	81598283	81598283	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr7:81598283C>T	ENST00000356253.5	-	29	2606	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G772E|CACNA2D1_ENST00000535308.1_Intron			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	784					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G772E(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGCACCAGGTCCACTTTCtaa	0.284																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	7											73	78	76					7																	81598283		2203	4295	6498	81436219	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2351G>A	7.37:g.81598283C>T	ENSP00000348589:p.Gly784Glu		81436219	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	13.48	2.249383	0.39797	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.68903	-0.36;-0.36	5.07	5.07	0.68467	.	0.333148	0.34580	N	0.003860	T	0.53802	0.1819	L	0.31065	0.9	0.80722	D	1	B	0.31383	0.321	B	0.31946	0.138	T	0.50233	-0.8852	10	0.12430	T	0.62	-18.191	15.9532	0.79859	0.0:1.0:0.0:0.0	.	772	P54289-2	.	E	772;791;784	ENSP00000349320:G772E;ENSP00000348589:G784E	ENSP00000284088:G791E	G	-	2	0	CACNA2D1	81436219	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.662000	0.54510	2.518000	0.84900	0.484000	0.47621	GGA		0.284	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81598283	C	T	81598283	3	4	114	1	0	0	0	0	1	0	0	0	2548	855	30	2	1004	2	CACNA2D1	7	81598283	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	15494118	81598283	77540380	30	6130											
SLC26A3	1811	broad.mit.edu	37	7	107423769	107423769	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr7:107423769C>G	ENST00000340010.5	-	9	1184	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E299Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	334					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.E334Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGGAAAGTCTCCACGTCAGGT	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											78	78	78					7																	107423769		2203	4300	6503	107211005	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1000G>C	7.37:g.107423769C>G	ENSP00000345873:p.Glu334Gln		107211005		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	5.307	0.242035	0.10077	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92805	-3.11;-3.11	5.28	-10.6	0.00265	Sulphate transporter (1);	2.159440	0.01305	N	0.010412	D	0.84070	0.5391	N	0.20685	0.6	0.09310	N	1	B;B	0.14805	0.004;0.011	B;B	0.15870	0.004;0.014	T	0.72833	-0.4173	10	0.29301	T	0.29	.	11.9673	0.53042	0.0496:0.4286:0.073:0.4488	.	299;334	G5E9U3;P40879	.;S26A3_HUMAN	Q	299;334	ENSP00000415817:E299Q;ENSP00000345873:E334Q	ENSP00000345873:E334Q	E	-	1	0	SLC26A3	107211005	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.951000	0.00327	-5.671000	0.00011	-6.464000	0.00000	GAG		0.413	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		G	107423769	C	G	107423769	3	3	114	1	0	0	0	0	1	0	0	0	14521	864	30	3	1346	3	SLC26A3	7	107423769	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	25825486	107423769	51714894	31	6131											
PLXNA4	91584	broad.mit.edu	37	7	132193188	132193188	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr7:132193188C>A	ENST00000359827.3	-	2	1227	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	PLXNA4_ENST00000423507.2_Missense_Mutation_p.D89Y|PLXNA4_ENST00000378539.5_Missense_Mutation_p.D89Y|PLXNA4_ENST00000321063.4_Missense_Mutation_p.D89Y			Q9HCM2	PLXA4_HUMAN	plexin A4	89	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.D89H(4)|p.D89Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGTCCTCGTCCGGCCCTGTC	0.552																																																5	Substitution - Missense(5)	lung(4)|ovary(1)	7											62	63	62					7																	132193188		2203	4300	6503	131843728	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.265G>T	7.37:g.132193188C>A	ENSP00000352882:p.Asp89Tyr		131843728	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154302	0.38021	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.42964	U	0.000639	T	0.20129	0.0484	L	0.44542	1.39	0.49213	D	0.999764	P;P;P	0.51537	0.799;0.946;0.917	P;P;P	0.56163	0.574;0.793;0.722	T	0.00143	-1.1995	10	0.46703	T	0.11	.	14.0472	0.64712	0.1509:0.8491:0.0:0.0	.	89;89;89	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	Y	89	ENSP00000323194:D89Y;ENSP00000352882:D89Y;ENSP00000392772:D89Y;ENSP00000367800:D89Y	ENSP00000323194:D89Y	D	-	1	0	PLXNA4	131843728	1.000000	0.71417	0.992000	0.48379	0.218000	0.24690	5.930000	0.70104	2.537000	0.85549	0.462000	0.41574	GAC		0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	132193188	C	A	132193188	3	1	114	1	0	0	0	0	1	0	0	0	12122	855	30	3	5857	3	PLXNA4	7	132193188	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	24769419	132193188	26945475	32	6132											
GPR21	2844	broad.mit.edu	37	9	125797414	125797414	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr9:125797414A>G	ENST00000373642.1	+	1	609	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	190					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.Y190C(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ACCGACTCCTACTTCACCCTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	9											151	134	140					9																	125797414		2203	4300	6503	124837235	SO:0001583	missense	2844			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.569A>G	9.37:g.125797414A>G	ENSP00000362746:p.Tyr190Cys		124837235	B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356498	0.24598	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.74315	-0.83	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.536026	0.17626	U	0.167554	T	0.81786	0.4896	L	0.58354	1.805	0.22479	N	0.999064	D	0.71674	0.998	D	0.63113	0.911	T	0.74532	-0.3634	10	0.66056	D	0.02	-13.2237	12.124	0.53907	0.8569:0.1431:0.0:0.0	.	190	Q99679	GPR21_HUMAN	C	190	ENSP00000362746:Y190C	ENSP00000362746:Y190C	Y	+	2	0	GPR21	124837235	0.964000	0.33143	0.997000	0.53966	0.798000	0.45092	2.294000	0.43567	2.075000	0.62263	0.383000	0.25322	TAC		0.507	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		G	125797414	A	G	125797414	3	3	114	1	0	0	0	0	1	0	0	0	6681	391	14	4	571	4	GPR21	9	125797414	Missense_Mutation	SNP	A	TCGA-13-0916-01A-01W-0420-08		125797414	15416017	33	6133											
FRMD4A	55691	broad.mit.edu	37	10	13803657	13803657	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr10:13803657C>A	ENST00000357447.2	-	8	822	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	FRMD4A_ENST00000342409.2_Missense_Mutation_p.D168Y|FRMD4A_ENST00000378503.1_Missense_Mutation_p.D152Y|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D137Y	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	152	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.D152Y(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTAGAAAAATCTCCCTTTGCC	0.333																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	10											105	108	107					10																	13803657		2203	4300	6503	13843663	SO:0001583	missense	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.454G>T	10.37:g.13803657C>A	ENSP00000350032:p.Asp152Tyr		13843663	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618733	0.66787	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.98	4.98	0.66077	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.90595	3.13	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.79108	0.985;0.971;0.992	T	0.76745	-0.2846	10	0.87932	D	0	-15.1188	14.1261	0.65222	0.0:1.0:0.0:0.0	.	168;185;152	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	Y	137;152;152;185;168	ENSP00000351438:D137Y;ENSP00000350032:D152Y;ENSP00000367764:D152Y;ENSP00000264546:D185Y;ENSP00000344237:D168Y	ENSP00000264546:D185Y	D	-	1	0	FRMD4A	13843663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.333000	0.59285	2.438000	0.82558	0.655000	0.94253	GAT		0.333	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		A	13803657	C	A	13803657	3	1	114	1	0	0	0	0	1	0	0	0	6051	913	32	3	2733	3	FRMD4A	10	13803657	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08		13803657	121731090	34	6134											
HTR7	3363	broad.mit.edu	37	10	92509273	92509273	+	Silent	SNP	G	G	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr10:92509273G>A	ENST00000336152.3	-	2	644	c.618C>T	c.(616-618)gtC>gtT	p.V206V	HTR7_ENST00000371719.2_Silent_p.V206V|HTR7_ENST00000277874.6_Silent_p.V206V|HTR7_ENST00000371721.3_Silent_p.V206V	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	206					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.V206V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGAGAAGCCAGACGGAGAGAA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	10											125	128	127					10																	92509273		2203	4300	6503	92499253	SO:0001819	synonymous_variant	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.618C>T	10.37:g.92509273G>A			92499253	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	CCDS7408.1																																																																																				0.493	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		A	92509273	G	A	92509273	2	1	114	1	0	0	0	0	0	0	0	1	7452	929	33	2		2	HTR7	10	92509273	Silent	SNP	G	TCGA-13-0916-01A-01W-0420-08	78705616	92509273	43025474	35	6135											
NOLC1	9221	broad.mit.edu	37	10	103919250	103919250	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr10:103919250C>T	ENST00000605788.1	+	7	1019	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	NOLC1_ENST00000488254.2_Missense_Mutation_p.R263W|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_Missense_Mutation_p.R272W	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	262	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.R262R(1)|p.R262W(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CACCCCTACCCGGAAGAGTTC	0.473																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|kidney(1)	10											109	119	116					10																	103919250		2203	4300	6503	103909240	SO:0001583	missense	9221			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.784C>T	10.37:g.103919250C>T	ENSP00000474710:p.Arg262Trp		103909240	Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020326	0.35606	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.31769	1.48	5.97	5.97	0.96955	.	0.279043	0.31566	N	0.007426	T	0.17492	0.0420	N	0.14661	0.345	0.09310	N	1	D;D;D	0.57257	0.979;0.979;0.964	B;B;B	0.39152	0.292;0.292;0.153	T	0.24190	-1.0167	10	0.87932	D	0	-6.1694	10.4528	0.44533	0.1352:0.6191:0.2457:0.0	.	263;272;262	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	W	272;262	ENSP00000385410:R272W	ENSP00000359024:R262W	R	+	1	2	NOLC1	103909240	0.002000	0.14202	0.354000	0.25760	0.283000	0.27025	1.233000	0.32648	2.836000	0.97738	0.655000	0.94253	CGG		0.473	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		T	103919250	C	T	103919250	3	4	114	1	0	0	0	0	1	0	0	0	10529	643	23	1	810	1	NOLC1	10	103919250	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	11409977	103919250	31615497	36	6136											
SOX6	55553	broad.mit.edu	37	11	15994567	15994567	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr11:15994567T>C	ENST00000352083.6	-	16	2352	c.2275A>G	c.(2275-2277)Aca>Gca	p.T759A	SOX6_ENST00000527619.1_Missense_Mutation_p.T735A|SOX6_ENST00000316399.6_Missense_Mutation_p.T739A|SOX6_ENST00000528429.1_Missense_Mutation_p.T759A|SOX6_ENST00000528252.1_Missense_Mutation_p.T732A|SOX6_ENST00000396356.3_Missense_Mutation_p.T739A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	759					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T739A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CAGTCAGATGTCATCTGAGGC	0.532																																																1	Substitution - Missense(1)	ovary(1)	11											121	117	119					11																	15994567		2200	4294	6494	15951143	SO:0001583	missense	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2275A>G	11.37:g.15994567T>C	ENSP00000339876:p.Thr759Ala		15951143	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	T	10.32	1.317540	0.23908	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.85	3.5	0.40072	.	0.087270	0.85682	N	0.000000	T	0.31358	0.0794	L	0.45581	1.43	0.58432	D	0.999998	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.15484	0.013;0.002;0.002	T	0.07578	-1.0765	10	0.12103	T	0.63	.	8.8766	0.35350	0.0:0.0656:0.1276:0.8068	.	739;759;735	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	A	739;759;739;732;735;759	ENSP00000324948:T739A;ENSP00000339876:T759A;ENSP00000379644:T739A;ENSP00000432134:T732A;ENSP00000434455:T735A;ENSP00000433233:T759A	ENSP00000324948:T739A	T	-	1	0	SOX6	15951143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.876000	0.63079	0.461000	0.27071	0.533000	0.62120	ACA		0.532	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		C	15994567	T	C	15994567	3	2	114	1	0	0	0	0	1	0	0	0	14958	1667	58	4	215	4	SOX6	11	15994567	Missense_Mutation	SNP	T	TCGA-13-0916-01A-01W-0420-08		15994567	119011949	37	6137											
CAPN1	823	broad.mit.edu	37	11	64950667	64950667	+	Splice_Site	SNP	G	G	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr11:64950667G>A	ENST00000527323.1	+	2	576	c.336G>A	c.(334-336)ctG>ctA	p.L112L	CAPN1_ENST00000533820.1_Splice_Site_p.L112L|CAPN1_ENST00000524773.1_Splice_Site_p.L112L|CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533129.1_Splice_Site_p.L112L|AP003068.23_ENST00000526623.1_5'Flank|CAPN1_ENST00000279247.6_Splice_Site_p.L112L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	112	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.L112L(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGGGAGCACTGGGTAGGCCCC	0.612																																																1	Substitution - coding silent(1)	ovary(1)	11											121	134	130					11																	64950667		1950	4179	6129	64707243	SO:0001630	splice_region_variant	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.337+1G>A	11.37:g.64950667G>A			64707243	Q2TTR0|Q6DHV4	Silent	SNP	ENST00000527323.1	37	CCDS44644.1																																																																																				0.612	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1		Silent	A	64950667	G	A	64950667	5	1	114	1	0	0	0	0	0	0	1	0	2622	1362	47	2	342	2	CAPN1	11	64950667	Splice_Site	SNP	G	TCGA-13-0916-01A-01W-0420-08	48956100	64950667	70055849	38	6138											
ODZ4	26011	broad.mit.edu	37	11	78383367	78383367	+	Missense_Mutation	SNP	T	T	A	rs368814082		TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr11:78383367T>A	ENST00000278550.7	-	31	5966	c.5504A>T	c.(5503-5505)aAc>aTc	p.N1835I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1835					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.N1835I(1)									GAGATTTCGGTTGTGAACCTG	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											78	76	77					11																	78383367		1911	4133	6044	78061015	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5504A>T	11.37:g.78383367T>A	ENSP00000278550:p.Asn1835Ile		78061015	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181893	0.78677	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90324	-2.65;0.81	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	L	0.42245	1.32	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	D	0.92240	0.5800	9	.	.	.	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	1835	Q6N022	TEN4_HUMAN	I	1835;299	ENSP00000278550:N1835I;ENSP00000431711:N299I	.	N	-	2	0	ODZ4	78061015	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.015000	0.64035	2.371000	0.80710	0.533000	0.62120	AAC		0.498	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78383367	T	A	78383367	3	1	114	1	0	0	0	0	1	0	0	0	10837	1725	60	5	2821	5	ODZ4	11	78383367	Missense_Mutation	SNP	T	TCGA-13-0916-01A-01W-0420-08	13432700	78383367	56623149	39	6139											
GUCY1A2	2977	broad.mit.edu	37	11	106647285	106647285	+	Silent	SNP	G	G	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr11:106647285G>A	ENST00000526355.2	-	6	2184	c.1716C>T	c.(1714-1716)taC>taT	p.Y572Y	GUCY1A2_ENST00000282249.2_Silent_p.Y572Y|GUCY1A2_ENST00000347596.2_Silent_p.Y593Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	572	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.Y572Y(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CTGCAACACAGTAGGCATCAC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	11											109	105	106					11																	106647285		2201	4298	6499	106152495	SO:0001819	synonymous_variant	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1716C>T	11.37:g.106647285G>A			106152495	A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	CCDS8335.1																																																																																				0.443	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			A	106647285	G	A	106647285	2	1	114	1	0	0	0	0	0	0	0	1	6893	1024	36	2		2	GUCY1A2	11	106647285	Silent	SNP	G	TCGA-13-0916-01A-01W-0420-08	28263918	106647285	28359231	40	6140											
CD163	9332	broad.mit.edu	37	12	7637853	7637853	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr12:7637853C>T	ENST00000359156.4	-	11	2820	c.2618G>A	c.(2617-2619)gGg>gAg	p.G873E	CD163_ENST00000432237.2_Missense_Mutation_p.G873E|CD163_ENST00000396620.3_Missense_Mutation_p.G906E|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.G861E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	873	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G873E(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GTTGATTTTCCCTTTGTCTGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	12											134	122	126					12																	7637853		2203	4300	6503	7529120	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2618G>A	12.37:g.7637853C>T	ENSP00000352071:p.Gly873Glu		7529120	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598036	0.66332	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.54	5.54	0.83059	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000015	T	0.53932	0.1827	M	0.66439	2.03	0.43203	D	0.995059	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;1.0	T	0.50783	-0.8787	10	0.51188	T	0.08	.	15.3446	0.74327	0.0:1.0:0.0:0.0	.	906;873;873	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	E	873;861;906;873	ENSP00000352071:G873E;ENSP00000444071:G861E;ENSP00000379863:G906E;ENSP00000403885:G873E	ENSP00000352071:G873E	G	-	2	0	CD163	7529120	0.010000	0.17322	0.187000	0.23214	0.005000	0.04900	1.862000	0.39448	2.776000	0.95493	0.650000	0.86243	GGG		0.517	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		T	7637853	C	T	7637853	3	4	114	1	0	0	0	0	1	0	0	0	2967	623	22	2	876	2	CD163	12	7637853	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08		7637853	126214042	41	6141											
PDZRN4	29951	broad.mit.edu	37	12	41946499	41946499	+	Silent	SNP	C	C	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr12:41946499C>A	ENST00000402685.2	+	6	1253	c.1245C>A	c.(1243-1245)ggC>ggA	p.G415G	PDZRN4_ENST00000298919.7_Silent_p.G155G|PDZRN4_ENST00000539469.2_Silent_p.G157G	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	415	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G157G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAAGCTGGGCCTGACAGTCT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	12											161	143	149					12																	41946499		2203	4300	6503	40232766	SO:0001819	synonymous_variant	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1245C>A	12.37:g.41946499C>A			40232766	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	CCDS53777.1																																																																																				0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		A	41946499	C	A	41946499	2	1	114	1	0	0	0	0	0	0	0	1	11710	726	26	3		3	PDZRN4	12	41946499	Silent	SNP	C	TCGA-13-0916-01A-01W-0420-08	34308646	41946499	91905396	42	6142											
GALNT6	11226	broad.mit.edu	37	12	51773357	51773357	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr12:51773357T>C	ENST00000543196.2	-	2	414	c.209A>G	c.(208-210)aAg>aGg	p.K70R	GALNT6_ENST00000356317.3_Missense_Mutation_p.K70R|GALNT6_ENST00000603203.1_5'Flank			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	70					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K70R(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GATTTGGAGCTTGGGCATTGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											88	91	90					12																	51773357		2203	4300	6503	50059624	SO:0001583	missense	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.209A>G	12.37:g.51773357T>C	ENSP00000444171:p.Lys70Arg		50059624	Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.638306	0.67130	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.29397	1.57;1.57	4.52	2.18	0.27775	.	0.491885	0.23552	N	0.046947	T	0.35393	0.0930	M	0.62723	1.935	0.30922	N	0.72794	P	0.49696	0.927	P	0.49361	0.608	T	0.34477	-0.9827	10	0.36615	T	0.2	.	8.7489	0.34602	0.0:0.1625:0.0:0.8375	.	70	Q8NCL4	GALT6_HUMAN	R	70;70;51	ENSP00000444171:K70R;ENSP00000348668:K70R	ENSP00000348668:K70R	K	-	2	0	GALNT6	50059624	0.638000	0.27225	1.000000	0.80357	0.990000	0.78478	2.081000	0.41596	0.492000	0.27815	-0.250000	0.11733	AAG		0.562	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		C	51773357	T	C	51773357	3	2	114	1	0	0	0	0	1	0	0	0	6217	1609	56	4	1699	4	GALNT6	12	51773357	Missense_Mutation	SNP	T	TCGA-13-0916-01A-01W-0420-08	9826858	51773357	82078538	43	6143											
KRT72	140807	broad.mit.edu	37	12	52984693	52984693	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr12:52984693G>T	ENST00000537672.2	-	6	1026	c.1016C>A	c.(1015-1017)aCc>aAc	p.T339N	KRT72_ENST00000398066.3_Missense_Mutation_p.T151N|KRT72_ENST00000293745.2_Missense_Mutation_p.T339N|KRT72_ENST00000354310.4_Intron	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	339	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T339N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTCAGCCTTGGTGAGCTTGAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											108	98	101					12																	52984693		2203	4300	6503	51270960	SO:0001583	missense	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1016C>A	12.37:g.52984693G>T	ENSP00000441160:p.Thr339Asn		51270960	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817332	0.50633	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	T;T;T	0.77750	-1.12;-1.12;-1.12	5.14	5.14	0.70334	Filament (1);	0.124234	0.35838	N	0.002950	D	0.90854	0.7127	M	0.91140	3.18	0.36744	D	0.882374	D	0.76494	0.999	D	0.77004	0.989	D	0.93842	0.7137	10	0.87932	D	0	.	19.5038	0.95106	0.0:0.0:1.0:0.0	.	339	Q14CN4	K2C72_HUMAN	N	339;339;151	ENSP00000441160:T339N;ENSP00000293745:T339N;ENSP00000446151:T151N	ENSP00000293745:T339N	T	-	2	0	KRT72	51270960	0.961000	0.32948	1.000000	0.80357	0.086000	0.17979	1.198000	0.32223	2.791000	0.96007	0.655000	0.94253	ACC		0.507	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		T	52984693	G	T	52984693	3	4	114	1	0	0	0	0	1	0	0	0	8485	1261	44	3	535	3	KRT72	12	52984693	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	1211336	52984693	80867202	44	6144											
C12orf50	160419	broad.mit.edu	37	12	88391944	88391944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr12:88391944G>A	ENST00000298699.2	-	4	337	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	C12orf50_ENST00000550553.1_Nonsense_Mutation_p.Q53*	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	53								p.Q53*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTCCTTCCTGAATTTCTTTC	0.368																																																1	Substitution - Nonsense(1)	ovary(1)	12											114	109	110					12																	88391944		2203	4300	6503	86916075	SO:0001587	stop_gained	160419			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.157C>T	12.37:g.88391944G>A	ENSP00000298699:p.Gln53*		86916075	Q6P674	Nonsense_Mutation	SNP	ENST00000298699.2	37	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	35	5.537277	0.96460	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944;ENST00000551163	.	.	.	5.81	5.81	0.92471	.	0.098604	0.45126	D	0.000387	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.2244	0.59907	0.0:0.1594:0.8406:0.0	.	.	.	.	X	53;53;107;53	.	ENSP00000298699:Q53X	Q	-	1	0	C12orf50	86916075	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.945000	0.49043	2.759000	0.94783	0.591000	0.81541	CAG		0.368	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		A	88391944	G	A	88391944	4	1	114	1	0	0	0	0	0	1	0	0	1695	1299	45	2	1127	2	C12orf50	12	88391944	Nonsense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	35407251	88391944	45459951	45	6145											
PXN	5829	broad.mit.edu	37	12	120650286	120650286	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr12:120650286G>T	ENST00000228307.7	-	12	1748	c.1607C>A	c.(1606-1608)tCt>tAt	p.S536Y	PXN_ENST00000267257.7_Missense_Mutation_p.S550Y|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000424649.2_Missense_Mutation_p.S502Y|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000458477.2_Missense_Mutation_p.S369Y|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000397506.3_Missense_Mutation_p.S348Y|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000536957.1_Missense_Mutation_p.S534Y	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	536	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.S502Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGCAGCCAGAACACAGCGA	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											44	56	52					12																	120650286		2081	4201	6282	119134669	SO:0001583	missense	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1607C>A	12.37:g.120650286G>T	ENSP00000228307:p.Ser536Tyr		119134669	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568053	0.45798	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.6	4.71	0.59529	Zinc finger, LIM-type (5);	.	.	.	.	D	0.82481	0.5046	N	0.25825	0.765	0.80722	D	1	P;P;B;P	0.37423	0.539;0.539;0.113;0.594	B;B;B;B	0.40982	0.234;0.234;0.115;0.345	T	0.80874	-0.1187	9	0.33940	T	0.23	.	16.5574	0.84490	0.0:0.1306:0.8694:0.0	.	502;550;348;536	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	Y	369;536;502;534;550;348;164;261	ENSP00000395536:S369Y;ENSP00000228307:S536Y;ENSP00000391283:S502Y;ENSP00000443887:S534Y;ENSP00000267257:S550Y;ENSP00000380643:S348Y	ENSP00000228307:S536Y	S	-	2	0	PXN	119134669	1.000000	0.71417	0.928000	0.36995	0.237000	0.25408	6.704000	0.74639	1.364000	0.46038	0.551000	0.68910	TCT		0.622	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		T	120650286	G	T	120650286	3	4	114	1	0	0	0	0	1	0	0	0	12855	942	33	3	172	3	PXN	12	120650286	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	32258342	120650286	13201609	46	6146											
FRY	10129	broad.mit.edu	37	13	32835801	32835801	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr13:32835801G>T	ENST00000380250.3	+	52	7961	c.7465G>T	c.(7465-7467)Gac>Tac	p.D2489Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2489						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D2489Y(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACGTTCTCTGGACAGCCTGGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	13											85	89	88					13																	32835801		2005	4178	6183	31733801	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7465G>T	13.37:g.32835801G>T	ENSP00000369600:p.Asp2489Tyr		31733801	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929259	0.92389	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.25749	1.78	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.984	T	0.51212	-0.8734	10	0.66056	D	0.02	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	270;2489	Q8NB82;Q5TBA9	.;FRY_HUMAN	Y	2489;133	ENSP00000369600:D2489Y	ENSP00000369567:D133Y	D	+	1	0	FRY	31733801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	GAC		0.488	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32835801	G	T	32835801	3	4	114	1	0	0	0	0	1	0	0	0	6063	1174	41	3	7671	3	FRY	13	32835801	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08		32835801	82334077	47	6147											
SCEL	8796	broad.mit.edu	37	13	78177254	78177254	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr13:78177254C>T	ENST00000349847.3	+	18	1165	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	SCEL_ENST00000377246.3_Missense_Mutation_p.H341Y|SCEL_ENST00000535157.1_Missense_Mutation_p.H339Y|SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_Intron	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	361	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.H361Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TCCCAAAGGACATGAAAATAC	0.269																																																1	Substitution - Missense(1)	ovary(1)	13											54	60	58					13																	78177254		2202	4299	6501	77075255	SO:0001583	missense	8796			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1081C>T	13.37:g.78177254C>T	ENSP00000302579:p.His361Tyr		77075255	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.065943	0.20067	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.21932	1.98;1.98;1.98	4.51	-1.68	0.08212	.	0.919810	0.08912	N	0.875754	T	0.09202	0.0227	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30146	0.027;0.225;0.27	B;B;B	0.28305	0.036;0.065;0.088	T	0.32214	-0.9915	10	0.02654	T	1	-0.753	5.9575	0.19281	0.276:0.5858:0.1382:0.0	.	339;341;361	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	Y	339;341;361	ENSP00000437895:H339Y;ENSP00000366454:H341Y;ENSP00000302579:H361Y	ENSP00000302579:H361Y	H	+	1	0	SCEL	77075255	0.000000	0.05858	0.273000	0.24645	0.121000	0.20230	0.054000	0.14205	-0.097000	0.12307	-0.264000	0.10439	CAT		0.269	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		T	78177254	C	T	78177254	3	4	114	1	0	0	0	0	1	0	0	0	13891	478	17	2	1147	2	SCEL	13	78177254	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	45341453	78177254	36992624	48	6148											
TRIP11	9321	broad.mit.edu	37	14	92439176	92439176	+	Silent	SNP	T	T	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr14:92439176T>A	ENST00000267622.4	-	20	5977	c.5604A>T	c.(5602-5604)ctA>ctT	p.L1868L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1868					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L1868L(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATTCTGTTTCTAGAAATTTAA	0.313			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	1	Substitution - coding silent(1)	ovary(1)	14											120	137	131					14																	92439176		2203	4298	6501	91508929	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5604A>T	14.37:g.92439176T>A			91508929	B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	9.251	1.040847	0.19669	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.9	-5.96	0.02234	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8659	0.63588	0.1117:0.6341:0.0:0.2542	.	.	.	.	X	1584	.	.	R	-	1	2	TRIP11	91508929	0.002000	0.14202	0.890000	0.34922	0.975000	0.68041	-1.738000	0.01842	-1.013000	0.03383	-0.917000	0.02746	AGA		0.313	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			A	92439176	T	A	92439176	2	1	114	1	0	0	0	0	0	0	0	1	16555	1509	53	5		5	TRIP11	14	92439176	Silent	SNP	T	TCGA-13-0916-01A-01W-0420-08		92439176	14910364	49	6149											
FRMD5	84978	broad.mit.edu	37	15	44166269	44166269	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr15:44166269C>T	ENST00000417257.1	-	14	1703	c.1527G>A	c.(1525-1527)atG>atA	p.M509I	FRMD5_ENST00000402883.1_Intron|FRMD5_ENST00000484674.1_Intron	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	509						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.M509I(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AGAGGAGTCCCATGGTCACAA	0.547																																																1	Substitution - Missense(1)	ovary(1)	15											144	115	124					15																	44166269		2198	4298	6496	41953561	SO:0001583	missense	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1527G>A	15.37:g.44166269C>T	ENSP00000403067:p.Met509Ile		41953561	Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	1.253	-0.618054	0.03663	.	.	ENSG00000171877	ENST00000417257	D	0.82433	-1.61	5.81	5.81	0.92471	.	0.228496	0.48767	D	0.000165	T	0.59211	0.2177	N	0.03324	-0.35	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58825	-0.7568	10	0.02654	T	1	.	10.1145	0.42583	0.1517:0.7018:0.1465:0.0	.	494;509	Q7Z6J6-2;Q7Z6J6	.;FRMD5_HUMAN	I	509	ENSP00000403067:M509I	ENSP00000403067:M509I	M	-	3	0	FRMD5	41953561	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.694000	0.25512	2.738000	0.93877	0.655000	0.94253	ATG		0.547	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		T	44166269	C	T	44166269	3	4	114	1	0	0	0	0	1	0	0	0	6053	594	21	2	189	2	FRMD5	15	44166269	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08		44166269	58365123	50	6150											
UNC13C	440279	broad.mit.edu	37	15	54838962	54838962	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr15:54838962G>C	ENST00000260323.11	+	26	5739	c.5739G>C	c.(5737-5739)aaG>aaC	p.K1913N	UNC13C_ENST00000545554.1_Missense_Mutation_p.K1913N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K1911N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1913	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.K1913N(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGTCCTAAAGCGAGTTTTAA	0.279																																																1	Substitution - Missense(1)	ovary(1)	15											39	34	35					15																	54838962		1755	4022	5777	52626254	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5739G>C	15.37:g.54838962G>C	ENSP00000260323:p.Lys1913Asn		52626254	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975569	0.34848	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.20200	2.09;2.09;2.09	5.59	3.66	0.41972	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	M	0.81682	2.555	0.44098	D	0.996868	D	0.89917	1.0	D	0.87578	0.998	T	0.20672	-1.0268	10	0.42905	T	0.14	.	6.6996	0.23217	0.4028:0.0:0.5972:0.0	.	1913	Q8NB66	UN13C_HUMAN	N	1913;1913;1911	ENSP00000260323:K1913N;ENSP00000438156:K1913N;ENSP00000442569:K1911N	ENSP00000260323:K1913N	K	+	3	2	UNC13C	52626254	0.998000	0.40836	0.980000	0.43619	0.129000	0.20672	0.618000	0.24373	0.649000	0.30751	0.561000	0.74099	AAG		0.279	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54838962	G	C	54838962	3	2	114	1	0	0	0	0	1	0	0	0	16986	962	34	3	5837	3	UNC13C	15	54838962	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	10672693	54838962	47692430	51	6151											
RRN3	54700	broad.mit.edu	37	16	15168715	15168715	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr16:15168715C>T	ENST00000198767.6	-	11	945	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.E255K|RRN3_ENST00000563559.1_Missense_Mutation_p.E288K|RRN3_ENST00000429751.2_Missense_Mutation_p.E258K|RRN3_ENST00000540462.1_Missense_Mutation_p.E106K	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	288					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E288K(1)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TCTTCATCTTCATCCTTTGAA	0.388																																																1	Substitution - Missense(1)	ovary(1)	16											98	72	81					16																	15168715		2197	4300	6497	15076216	SO:0001583	missense	54700			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"RRN3 RNA polymerase I transcription factor homolog (yeast)"			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.862G>A	16.37:g.15168715C>T	ENSP00000198767:p.Glu288Lys		15076216	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.124249	0.77436	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.72118	2.19	0.80722	D	1	P;D;D	0.58268	0.663;0.96;0.982	B;P;P	0.60415	0.242;0.745;0.874	T	0.52419	-0.8578	10	0.08179	T	0.78	.	19.0094	0.92867	0.0:1.0:0.0:0.0	.	258;189;288	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	K	288;258;255;106	ENSP00000198767:E288K;ENSP00000402027:E258K;ENSP00000318484:E255K;ENSP00000437963:E106K	ENSP00000198767:E288K	E	-	1	0	RRN3	15076216	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.951000	0.75983	2.735000	0.93741	0.561000	0.74099	GAA		0.388	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		T	15168715	C	T	15168715	3	4	114	1	0	0	0	0	1	0	0	0	13687	835	29	2	1125	2	RRN3	16	15168715	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08		15168715	75186038	52	6152											
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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"	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	17	GRCh37	CM941329	TP53	M							102	91	94					17																	7578263		2203	4300	6503	7518988	SO:0001587	stop_gained	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		7518988	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578263	G	A	7578263	4	1	114	1	0	0	0	0	0	1	0	0	16381	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08		7578263	73616947	53	6153											
ACCN1	40	broad.mit.edu	37	17	31352992	31352992	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr17:31352992G>T	ENST00000359872.6	-	5	1755	c.994C>A	c.(994-996)Cct>Act	p.P332T	ASIC2_ENST00000225823.2_Missense_Mutation_p.P383T|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	332					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.P383T(1)								Amiloride(DB00594)	GTACAAAAAGGGGCATCCCCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	17											99	77	84					17																	31352992		2203	4300	6503	28377105	SO:0001583	missense	40			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.994C>A	17.37:g.31352992G>T	ENSP00000352934:p.Pro332Thr		28377105	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506258	0.26949	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.69040	-0.37;-0.37	5.12	5.12	0.69794	.	0.057343	0.64402	D	0.000001	T	0.57489	0.2057	L	0.31578	0.945	0.52501	D	0.999956	B;B	0.20988	0.05;0.033	B;B	0.26693	0.068;0.072	T	0.44390	-0.9331	10	0.24483	T	0.36	-0.5128	16.4308	0.83841	0.0:0.0:1.0:0.0	.	332;383	Q16515;E9PBX2	ACCN1_HUMAN;.	T	383;332;138	ENSP00000225823:P383T;ENSP00000352934:P332T	ENSP00000225823:P383T	P	-	1	0	ACCN1	28377105	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.987000	0.49378	0.655000	0.30866	0.555000	0.69702	CCT		0.562	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		T	31352992	G	T	31352992	3	4	114	1	0	0	0	0	1	0	0	0	128	1232	43	3	568	3	ACCN1	17	31352992	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	23774729	31352992	49842218	54	6154											
DSC1	1823	broad.mit.edu	37	18	28734801	28734801	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr18:28734801T>C	ENST00000257198.5	-	5	824	c.563A>G	c.(562-564)gAg>gGg	p.E188G	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.E188G	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	188	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E188G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGTGTCTTTCTCTATGTAAAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	18											81	79	80					18																	28734801		2203	4300	6503	26988799	SO:0001583	missense	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.563A>G	18.37:g.28734801T>C	ENSP00000257198:p.Glu188Gly		26988799	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157173	0.57259	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.61040	0.14;0.14	5.51	5.51	0.81932	Cadherin (5);Cadherin-like (1);	0.732533	0.12007	N	0.508243	T	0.64962	0.2646	M	0.83483	2.645	0.48632	D	0.999684	P;P	0.36683	0.565;0.565	B;B	0.37015	0.239;0.239	T	0.67745	-0.5591	10	0.59425	D	0.04	.	14.5948	0.68397	0.0:0.0:0.0:1.0	.	188;188	Q08554;Q9HB00	DSC1_HUMAN;.	G	188	ENSP00000257197:E188G;ENSP00000257198:E188G	ENSP00000257197:E188G	E	-	2	0	DSC1	26988799	1.000000	0.71417	0.987000	0.45799	0.648000	0.38561	4.861000	0.62969	2.100000	0.63781	0.455000	0.32223	GAG		0.368	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		C	28734801	T	C	28734801	3	2	114	1	0	0	0	0	1	0	0	0	4765	1551	54	4	2209	4	DSC1	18	28734801	Missense_Mutation	SNP	T	TCGA-13-0916-01A-01W-0420-08		28734801	49342447	55	6155											
KLHL14	57565	broad.mit.edu	37	18	30260447	30260447	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr18:30260447G>A	ENST00000359358.4	-	6	1792	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	452						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.R452C(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GACACATAGCGCCATTCATTC	0.468																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	18											131	126	128					18																	30260447		2203	4300	6503	28514445	SO:0001583	missense	57565			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1354C>T	18.37:g.30260447G>A	ENSP00000352314:p.Arg452Cys		28514445	A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678853	0.68042	.	.	ENSG00000197705	ENST00000359358	T	0.79454	-1.27	5.58	5.58	0.84498	Galactose oxidase, beta-propeller (1);	0.143817	0.64402	D	0.000005	T	0.80675	0.4668	L	0.47190	1.495	0.80722	D	1	D	0.60575	0.988	P	0.51266	0.664	T	0.80982	-0.1139	10	0.52906	T	0.07	.	19.922	0.97089	0.0:0.0:1.0:0.0	.	452	Q9P2G3	KLH14_HUMAN	C	452	ENSP00000352314:R452C	ENSP00000352314:R452C	R	-	1	0	KLHL14	28514445	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.793000	0.69060	2.780000	0.95670	0.655000	0.94253	CGC		0.468	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			A	30260447	G	A	30260447	3	1	114	1	0	0	0	0	1	0	0	0	8370	1087	38	1	548	1	KLHL14	18	30260447	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	1525646	30260447	47816801	56	6156											
ALPK2	115701	broad.mit.edu	37	18	56203991	56203991	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr18:56203991G>C	ENST00000361673.3	-	5	3641	c.3428C>G	c.(3427-3429)tCc>tGc	p.S1143C	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1143						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S504C(1)|p.S1143C(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACCCTGCTGGGACAGGCTCTG	0.512																																																2	Substitution - Missense(2)	ovary(2)	18											117	124	122					18																	56203991		2203	4300	6503	54354971	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3428C>G	18.37:g.56203991G>C	ENSP00000354991:p.Ser1143Cys		54354971	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	10.26	1.299806	0.23650	.	.	ENSG00000198796	ENST00000361673	T	0.48522	0.81	5.21	1.14	0.20703	.	2.578920	0.01056	N	0.004540	T	0.37156	0.0993	L	0.34521	1.04	0.09310	N	1	B;B	0.18166	0.026;0.002	B;B	0.17979	0.02;0.002	T	0.30179	-0.9987	10	0.87932	D	0	-0.0745	1.9709	0.03406	0.1583:0.1624:0.5125:0.1668	.	1138;1143	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	C	1143	ENSP00000354991:S1143C	ENSP00000354991:S1143C	S	-	2	0	ALPK2	54354971	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.222000	0.09190	0.203000	0.20529	0.655000	0.94253	TCC		0.512	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		C	56203991	G	C	56203991	3	2	114	1	0	0	0	0	1	0	0	0	545	1174	41	3	3120	3	ALPK2	18	56203991	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	25943544	56203991	21873257	57	6157											
TIMM44	10469	broad.mit.edu	37	19	7997585	7997585	+	Missense_Mutation	SNP	C	C	T	rs201091980		TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr19:7997585C>T	ENST00000270538.3	-	9	1182	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	305					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.R305Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CGGGTCCACCCGGAGGATCTC	0.652													C|||	1	0.000199681	0	0	5008	,	,		16525	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19											59	63	61					19																	7997585		2203	4300	6503	7903585	SO:0001583	missense	10469			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.914G>A	19.37:g.7997585C>T	ENSP00000270538:p.Arg305Gln		7903585	A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	CCDS12192.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.71	3.878941	0.72294	.	.	ENSG00000104980	ENST00000270538	T	0.75821	-0.97	5.07	3.81	0.43845	.	0.049159	0.85682	D	0.000000	T	0.46502	0.1396	N	0.11560	0.145	0.42359	D	0.992407	B	0.32071	0.355	B	0.21546	0.035	T	0.44877	-0.9299	10	0.25106	T	0.35	-19.9042	5.2437	0.15485	0.0:0.75:0.0:0.25	.	305	O43615	TIM44_HUMAN	Q	305	ENSP00000270538:R305Q	ENSP00000270538:R305Q	R	-	2	0	TIMM44	7903585	0.965000	0.33210	0.984000	0.44739	0.968000	0.65278	2.368000	0.44222	2.529000	0.85273	0.561000	0.74099	CGG		0.652	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			T	7997585	C	T	7997585	3	4	114	1	0	0	0	0	1	0	0	0	15912	652	23	1	464	1	TIMM44	19	7997585	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08		7997585	51131398	58	6158											
ZNF266	10781	broad.mit.edu	37	19	9524703	9524703	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr19:9524703C>T	ENST00000592904.1	-	5	2974	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	ZNF266_ENST00000588933.1_Missense_Mutation_p.E300K|ZNF266_ENST00000588221.1_Missense_Mutation_p.E300K|ZNF266_ENST00000590306.1_Missense_Mutation_p.E300K|ZNF266_ENST00000361451.2_Missense_Mutation_p.E300K|ZNF266_ENST00000592292.1_Missense_Mutation_p.E300K|ZNF266_ENST00000361151.1_Missense_Mutation_p.E300K			Q14584	ZN266_HUMAN	zinc finger protein 266	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E300K(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						ATCCCACATTCCTTGCATTCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	19											110	108	109					19																	9524703		2203	4300	6503	9385703	SO:0001583	missense	10781			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"Zinc fingers, C2H2-type"	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.898G>A	19.37:g.9524703C>T	ENSP00000466714:p.Glu300Lys		9385703	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775855	0.49786	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.07327	3.2;3.2	2.53	0.33	0.15929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	N	0.20530	0.585	0.09310	N	1	B	0.20671	0.047	B	0.17433	0.018	T	0.37888	-0.9686	9	0.54805	T	0.06	.	6.608	0.22735	0.0:0.7306:0.0:0.2694	.	300	Q14584	ZN266_HUMAN	K	300	ENSP00000354680:E300K;ENSP00000355047:E300K	ENSP00000355047:E300K	E	-	1	0	ZNF266	9385703	0.000000	0.05858	0.003000	0.11579	0.388000	0.30384	-0.258000	0.08733	0.160000	0.19432	0.555000	0.69702	GAA		0.383	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			T	9524703	C	T	9524703	3	4	114	1	0	0	0	0	1	0	0	0	17805	864	30	2	755	2	ZNF266	19	9524703	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	1527118	9524703	49604280	59	6159											
OR7C2	26658	broad.mit.edu	37	19	15052699	15052699	+	Silent	SNP	G	G	A	rs377607402		TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr19:15052699G>A	ENST00000248072.3	+	1	399	c.399G>A	c.(397-399)acG>acA	p.T133T		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T133T(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TGCACTACACGGTCATCATGA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	19						G		1,4405	826.1+/-416.6	0,1,2202	130	123	125		399	-8.4	0	19		125	0,8600		0,0,4300	no	coding-synonymous	OR7C2	NM_012377.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		133/320	15052699	1,13005	2203	4300	6503	14913699	SO:0001819	synonymous_variant	26658			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.399G>A	19.37:g.15052699G>A			14913699	O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	CCDS12320.1																																																																																				0.517	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			A	15052699	G	A	15052699	2	1	114	1	0	0	0	0	0	0	0	1	11218	1103	39	1		1	OR7C2	19	15052699	Silent	SNP	G	TCGA-13-0916-01A-01W-0420-08	5527996	15052699	44076284	60	6160											
GPI	2821	broad.mit.edu	37	19	34887243	34887243	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr19:34887243C>G	ENST00000356487.5	+	13	1341	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	GPI_ENST00000586425.1_Missense_Mutation_p.S367C|GPI_ENST00000415930.3_Missense_Mutation_p.S378C	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	367					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.S367C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					ATCACCAAATCTGGAACCCGT	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											63	68	66					19																	34887243		2203	4300	6503	39579083	SO:0001583	missense	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1100C>G	19.37:g.34887243C>G	ENSP00000348877:p.Ser367Cys		39579083	B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511329	0.64522	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94092	-3.35;-3.35	5.46	4.36	0.52297	.	0.571221	0.18977	N	0.125969	D	0.94072	0.8100	M	0.64404	1.975	0.22858	N	0.998649	P;P;P;B	0.46512	0.547;0.879;0.814;0.196	P;P;P;B	0.51657	0.676;0.621;0.676;0.348	D	0.89015	0.3431	10	0.87932	D	0	-6.8411	13.5385	0.61659	0.2328:0.7672:0.0:0.0	.	339;378;340;367	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	C	378;367	ENSP00000405573:S378C;ENSP00000348877:S367C	ENSP00000348877:S367C	S	+	2	0	GPI	39579083	0.947000	0.32204	0.950000	0.38849	0.901000	0.52897	3.370000	0.52372	2.566000	0.86566	0.555000	0.69702	TCT		0.498	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			G	34887243	C	G	34887243	3	3	114	1	0	0	0	0	1	0	0	0	6611	913	32	3	1271	3	GPI	19	34887243	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08	19834544	34887243	24241740	61	6161											
ZNF615	284370	broad.mit.edu	37	19	52496396	52496396	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr19:52496396A>T	ENST00000602063.1	-	6	2282	c.1933T>A	c.(1933-1935)Ttt>Att	p.F645I	ZNF615_ENST00000391795.3_Missense_Mutation_p.F650I|ZNF615_ENST00000594083.1_Missense_Mutation_p.F656I|ZNF615_ENST00000376716.5_Missense_Mutation_p.F645I|ZNF615_ENST00000598071.1_Missense_Mutation_p.F656I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	645					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.F656I(1)|p.F645I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCTGTGTGAAATCGCTGATGT	0.383																																																2	Substitution - Missense(2)	ovary(2)	19											166	164	165					19																	52496396		2203	4300	6503	57188208	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1933T>A	19.37:g.52496396A>T	ENSP00000473089:p.Phe645Ile		57188208	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	A	1.056	-0.674268	0.03378	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.12672	2.66;2.66	3.32	-0.534	0.11883	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	N	0.00289	-1.7	0.23023	N	0.998413	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.10450	0.005;0.003;0.003;0.005	T	0.44251	-0.9340	9	0.02654	T	1	.	3.9241	0.09256	0.3165:0.0:0.1208:0.5626	.	650;652;656;645	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	I	645;655;650;599	ENSP00000365906:F645I;ENSP00000375672:F650I	ENSP00000347019:F655I	F	-	1	0	ZNF615	57188208	0.001000	0.12720	0.373000	0.26003	0.967000	0.64934	0.537000	0.23144	0.037000	0.15575	0.533000	0.62120	TTT		0.383	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		T	52496396	A	T	52496396	3	4	114	1	0	0	0	0	1	0	0	0	18040	101	4	5	266	5	ZNF615	19	52496396	Missense_Mutation	SNP	A	TCGA-13-0916-01A-01W-0420-08	17609153	52496396	6632587	62	6162											
TGM6	343641	broad.mit.edu	37	20	2398128	2398128	+	Silent	SNP	C	C	G			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chr20:2398128C>G	ENST00000202625.2	+	10	1648	c.1587C>G	c.(1585-1587)gtC>gtG	p.V529V	TGM6_ENST00000381423.1_Silent_p.V529V	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	529					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.V529V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGGTGAGGGTCAACCTGAGCG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	20											31	30	30					20																	2398128		2203	4300	6503	2346128	SO:0001819	synonymous_variant	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1587C>G	20.37:g.2398128C>G			2346128	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	CCDS13025.1																																																																																				0.627	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		G	2398128	C	G	2398128	2	3	114	1	0	0	0	0	0	0	0	1	15834	813	29	3		3	TGM6	20	2398128	Silent	SNP	C	TCGA-13-0916-01A-01W-0420-08		2398128	60627392	63	6163											
GDPD2	54857	broad.mit.edu	37	X	69646529	69646529	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chrX:69646529C>T	ENST00000374382.3	+	7	745	c.494C>T	c.(493-495)gCc>gTc	p.A165V	GDPD2_ENST00000472623.1_Intron|GDPD2_ENST00000536730.1_Missense_Mutation_p.A86V|GDPD2_ENST00000453994.2_Missense_Mutation_p.A165V|GDPD2_ENST00000538649.1_Missense_Mutation_p.A86V	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	165					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.A165V(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ATTGGAGCAGCCGCTGGAATT	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											44	37	39					X																	69646529		2203	4300	6503	69563254	SO:0001583	missense	54857			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.494C>T	X.37:g.69646529C>T	ENSP00000363503:p.Ala165Val		69563254	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	2.899	-0.227948	0.06022	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.17691	2.26;2.84;2.84;2.84	4.92	2.37	0.29283	.	0.147691	0.45126	N	0.000381	T	0.03783	0.0107	N	0.00483	-1.445	0.30754	N	0.744779	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34153	-0.9840	9	.	.	.	-3.8015	7.6687	0.28447	0.0:0.1818:0.0:0.8182	.	165;86;165	B4DVC9;B4DRH4;Q9HCC8	.;.;GDPD2_HUMAN	V	165;86;86;165	ENSP00000414019:A165V;ENSP00000445982:A86V;ENSP00000444601:A86V;ENSP00000363503:A165V	.	A	+	2	0	GDPD2	69563254	0.997000	0.39634	0.831000	0.32960	0.936000	0.57629	2.563000	0.45922	0.217000	0.20800	-0.354000	0.07668	GCC		0.617	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		T	69646529	C	T	69646529	3	4	114	1	0	0	0	0	1	0	0	0	6324	739	26	2	516	2	GDPD2	23	69646529	Missense_Mutation	SNP	C	TCGA-13-0916-01A-01W-0420-08		69646529	85624031	64	6164											
SLC16A2	6567	broad.mit.edu	37	X	73751290	73751290	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chrX:73751290G>A	ENST00000587091.1	+	6	1699	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	SLC16A2_ENST00000276033.5_Missense_Mutation_p.E582K	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	508					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)	p.E582K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GTTCAAGAAAGAGCAGAGAGA	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											106	92	97					X																	73751290		2203	4300	6503	73668015	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1522G>A	X.37:g.73751290G>A	ENSP00000465734:p.Glu508Lys		73668015	Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841613	0.32513	.	.	ENSG00000147100	ENST00000276033	T	0.10477	2.87	5.3	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.775103	0.12099	N	0.499630	T	0.08582	0.0213	L	0.38175	1.15	0.28989	N	0.888149	B	0.10296	0.003	B	0.14023	0.01	T	0.19614	-1.0300	10	0.19590	T	0.45	.	6.6736	0.23082	0.1899:0.2266:0.5835:0.0	.	508	P36021	MOT8_HUMAN	K	582	ENSP00000276033:E582K	ENSP00000276033:E582K	E	+	1	0	SLC16A2	73668015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.444000	0.44890	2.210000	0.71456	0.529000	0.55759	GAG		0.547	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			A	73751290	G	A	73751290	3	1	114	1	0	0	0	0	1	0	0	0	14411	943	33	2	1766	2	SLC16A2	23	73751290	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	4104761	73751290	81519270	65	6165											
ESX1	80712	broad.mit.edu	37	X	103495039	103495039	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0916-01A-01W-0420-08	TCGA-13-0916-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15ce12af-4bc0-48d2-aa2a-b4e1b36c085d	4dde39c9-e47b-48c9-b63b-06fb7d164e62	g.chrX:103495039G>A	ENST00000372588.4	-	4	1174	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	364	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.A364V(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGGCAGAGGCGCCATGGGCGG	0.746																																					Pancreas(200;1705 2227 25194 28471 45274)											1	Substitution - Missense(1)	ovary(1)	X											10	10	10					X																	103495039		2184	4267	6451	103381695	SO:0001583	missense	80712			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1091C>T	X.37:g.103495039G>A	ENSP00000361669:p.Ala364Val		103381695	B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881645	0.33255	.	.	ENSG00000123576	ENST00000372588	T	0.75050	-0.9	2.33	0.133	0.14766	.	.	.	.	.	T	0.66992	0.2846	L	0.43152	1.355	0.09310	N	1	P	0.51147	0.942	P	0.46885	0.53	T	0.58002	-0.7713	9	0.87932	D	0	7.4327	5.0613	0.14559	0.1496:0.2099:0.6404:0.0	.	364	Q8N693	ESX1_HUMAN	V	364	ENSP00000361669:A364V	ENSP00000361669:A364V	A	-	2	0	ESX1	103381695	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.415000	0.02469	-0.225000	0.09913	0.292000	0.19580	GCG		0.746	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		A	103495039	G	A	103495039	3	1	114	1	0	0	0	0	1	0	0	0	5263	1087	38	1	133	1	ESX1	23	103495039	Missense_Mutation	SNP	G	TCGA-13-0916-01A-01W-0420-08	29743749	103495039	51775521	66	6166											
SAMD11	148398	hgsc.bcm.edu	37	1	874465	874466	+	Frame_Shift_Ins	INS	-	-	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr1:874465_874466insC	ENST00000342066.3	+	6	559_560	c.476_477insC	c.(475-480)agcgacfs	p.D160fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	160					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)		p.D160fs*47(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CGTATCAGCAGCGACTGCTTTT	0.624																																																1	Insertion - Frameshift(1)	ovary(1)	1																																								864329	SO:0001589	frameshift_variant	148398			BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.477dupC	1.37:g.874466_874466dupC	ENSP00000342313:p.Asp160fs		864328	A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Ins	INS	ENST00000342066.3	37	CCDS2.2																																																																																				0.624	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		C	874466	-	C	874465	7	5	115	1	0	1	1	0	0	0	0	0	13819	971	34	0	494	0	SAMD11	1	874465	Frame_Shift_Ins	INS	-	TCGA-13-0919-01A-01W-0419-10		874465	248376156	1	6167											
FCRL1	115350	hgsc.bcm.edu	37	1	157772278	157772278	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr1:157772278C>T	ENST00000368176.3	-	4	563	c.496G>A	c.(496-498)Gca>Aca	p.A166T	FCRL1_ENST00000491942.1_Missense_Mutation_p.A166T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.A166T	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	166	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A166T(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCATACTCTGCTGTCAGTGAA	0.498																																					GBM(54;482 1003 11223 30131 35730)											1	Substitution - Missense(1)	ovary(1)	1											119	97	105					1																	157772278		2203	4300	6503	156038902	SO:0001583	missense	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.496G>A	1.37:g.157772278C>T	ENSP00000357158:p.Ala166Thr		156038902	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075591	0.55646	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03860	3.78;3.78;3.78	5.42	4.49	0.54785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000030	T	0.11623	0.0283	M	0.80422	2.495	0.09310	N	1	D;D;D	0.89917	0.966;1.0;1.0	P;D;D	0.97110	0.747;1.0;0.999	T	0.02144	-1.1206	10	0.72032	D	0.01	.	9.395	0.38397	0.0:0.9046:0.0:0.0954	.	166;166;166	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	T	166	ENSP00000351039:A166T;ENSP00000357158:A166T;ENSP00000418130:A166T	ENSP00000351039:A166T	A	-	1	0	FCRL1	156038902	0.012000	0.17670	0.079000	0.20413	0.599000	0.36880	0.876000	0.28092	2.698000	0.92095	0.655000	0.94253	GCA		0.498	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		T	157772278	C	T	157772278	3	4	115	1	0	0	0	0	1	0	0	0	5794	797	28	2	891	2	FCRL1	1	157772278	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	156897813	157772278	91478343	2	6168											
GTF2A1L	11036	hgsc.bcm.edu	37	2	48848422	48848422	+	Silent	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr2:48848422G>A	ENST00000403751.3	+	3	277	c.240G>A	c.(238-240)tcG>tcA	p.S80S	GTF2A1L_ENST00000430487.2_Silent_p.S46S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S784S|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S784S|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S784S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S784S|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S784S	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	80					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.S784S(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTGCAATCGTCAACAGGTT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	2											72	72	72					2																	48848422		2203	4300	6503	48701926	SO:0001819	synonymous_variant	286749			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"TFIIA alpha/beta like factor"	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.240G>A	2.37:g.48848422G>A			48701926	B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	CCDS46281.1																																																																																				0.383	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		A	48848422	G	A	48848422	2	1	115	1	0	0	0	0	0	0	0	1	6853	1132	40	1		1	GTF2A1L	2	48848422	Silent	SNP	G	TCGA-13-0919-01A-01W-0419-10		48848422	194350951	3	6169											
SPTBN1	6711	hgsc.bcm.edu	37	2	54870202	54870202	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr2:54870202T>A	ENST00000356805.4	+	19	4222	c.3941T>A	c.(3940-3942)tTg>tAg	p.L1314*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.L1301*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1314					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.L1314*(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGTAAATGGTTGAAGCATCAA	0.423																																																1	Substitution - Nonsense(1)	ovary(1)	2											109	108	108					2																	54870202		2203	4300	6503	54723706	SO:0001587	stop_gained	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3941T>A	2.37:g.54870202T>A	ENSP00000349259:p.Leu1314*		54723706	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	T	46	12.247378	0.99650	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	5.73	4.56	0.56223	.	0.072426	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2753	0.54730	0.1271:0.0:0.0:0.8729	.	.	.	.	X	1314;1301	.	ENSP00000334156:L1301X	L	+	2	0	SPTBN1	54723706	1.000000	0.71417	0.530000	0.27963	0.947000	0.59692	4.971000	0.63749	0.984000	0.38629	0.533000	0.62120	TTG		0.423	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			A	54870202	T	A	54870202	4	1	115	1	0	0	0	0	0	1	0	0	15121	1821	63	5	4124	5	SPTBN1	2	54870202	Nonsense_Mutation	SNP	T	TCGA-13-0919-01A-01W-0419-10	6021780	54870202	188329171	4	6170											
ASTL	431705	hgsc.bcm.edu	37	2	96801092	96801094	+	In_Frame_Del	DEL	GCC	GCC	-	rs373382016		TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	GCC	GCC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr2:96801092_96801094delGCC	ENST00000342380.2	-	3	238_240	c.239_241delGGC	c.(238-243)cggccg>ccg	p.R80del		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.R80delR(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCACTCACCGGCCGGATGATGTC	0.606																																																1	Deletion - In frame(1)	ovary(1)	2																																								96164821	SO:0001651	inframe_deletion	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.239_241delGGC	2.37:g.96801092_96801094delGCC	ENSP00000343674:p.Arg80del		96164819		In_Frame_Del	DEL	ENST00000342380.2	37	CCDS33249.1																																																																																				0.606	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			-	96801094	GCC	-	96801092	7	5	115	1	0	1	0	1	0	0	0	0	1063	1203	42	0	1081	0	ASTL	2	96801092	In_Frame_Del	DEL	GCC	TCGA-13-0919-01A-01W-0419-10	41930890	96801092	146398281	5	6171											
SNRNP200	23020	hgsc.bcm.edu	37	2	96951025	96951025	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr2:96951025C>G	ENST00000323853.5	-	30	4134	c.4057G>C	c.(4057-4059)Ggc>Cgc	p.G1353R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1353	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.G1353R(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTCCCGCTGCCCGTGGGGGCC	0.537																																																1	Substitution - Missense(1)	ovary(1)	2											79	78	79					2																	96951025		2203	4300	6503	96314752	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4057G>C	2.37:g.96951025C>G	ENSP00000317123:p.Gly1353Arg		96314752	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152188	0.94645	.	.	ENSG00000144028	ENST00000323853	T	0.79352	-1.26	5.79	5.79	0.91817	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	H	0.97340	3.985	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.94770	0.7944	10	0.87932	D	0	-16.916	18.8028	0.92025	0.0:1.0:0.0:0.0	.	1353	O75643	U520_HUMAN	R	1353	ENSP00000317123:G1353R	ENSP00000317123:G1353R	G	-	1	0	SNRNP200	96314752	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.466000	0.80914	2.746000	0.94184	0.655000	0.94253	GGC		0.537	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		G	96951025	C	G	96951025	3	3	115	1	0	0	0	0	1	0	0	0	14855	623	22	3	2417	3	SNRNP200	2	96951025	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	149933	96951025	146248348	6	6172											
CREG2	200407	hgsc.bcm.edu	37	2	101967422	101967422	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr2:101967422C>T	ENST00000324768.5	-	4	973	c.836G>A	c.(835-837)aGg>aAg	p.R279K		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	279						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)	p.R279K(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATATTCCTCCCTTGAAATACT	0.423																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	2											135	128	130					2																	101967422		2203	4300	6503	101333854	SO:0001583	missense	200407			AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.836G>A	2.37:g.101967422C>T	ENSP00000315203:p.Arg279Lys		101333854	Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	C	5.885	0.347378	0.11126	.	.	ENSG00000175874	ENST00000324768	T	0.41400	1.0	5.88	-3.61	0.04556	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.953190	0.08868	N	0.881936	T	0.16557	0.0398	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	10	0.02654	T	1	.	2.2666	0.04080	0.1109:0.3084:0.1761:0.4046	.	279	Q8IUH2	CREG2_HUMAN	K	279	ENSP00000315203:R279K	ENSP00000315203:R279K	R	-	2	0	CREG2	101333854	0.037000	0.19845	0.016000	0.15963	0.274000	0.26718	0.164000	0.16542	-0.646000	0.05452	-1.814000	0.00607	AGG		0.423	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		T	101967422	C	T	101967422	3	4	115	1	0	0	0	0	1	0	0	0	3865	681	24	2	40	2	CREG2	2	101967422	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	5016397	101967422	141231951	7	6173											
ACVR1C	130399	hgsc.bcm.edu	37	2	158390527	158390527	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr2:158390527C>T	ENST00000243349.8	-	9	1745	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	ACVR1C_ENST00000348328.5_Missense_Mutation_p.R305H|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R382H|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R412H	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.R462H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CCAACACTCACGCATTATTCT	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											82	89	87					2																	158390527		2203	4300	6503	158098773	SO:0001583	missense	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1385G>A	2.37:g.158390527C>T	ENSP00000243349:p.Arg462His		158098773		Missense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360834	0.95877	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133611	0.30911	N	0.008625	T	0.80854	0.4703	M	0.82517	2.595	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.987	D;P;P	0.65684	0.937;0.815;0.86	T	0.83353	-0.0002	10	0.72032	D	0.01	.	18.9895	0.92786	0.0:1.0:0.0:0.0	.	305;382;462	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	H	462;412;305;382	ENSP00000243349:R462H;ENSP00000387168:R412H;ENSP00000335139:R305H;ENSP00000335178:R382H	ENSP00000243349:R462H	R	-	2	0	ACVR1C	158098773	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.736000	0.84948	2.574000	0.86865	0.591000	0.81541	CGT		0.413	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		T	158390527	C	T	158390527	3	4	115	1	0	0	0	0	1	0	0	0	222	536	19	1	100	1	ACVR1C	2	158390527	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	56423105	158390527	84808846	8	6174											
IRS1	3667	hgsc.bcm.edu	37	2	227661263	227661263	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr2:227661263T>C	ENST00000305123.5	-	1	3212	c.2192A>G	c.(2191-2193)gAc>gGc	p.D731G	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	731					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D731G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTTCATGTAGTCACCTGTGCA	0.602											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											137	143	141					2																	227661263		2203	4300	6503	227369507	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2192A>G	2.37:g.227661263T>C	ENSP00000304895:p.Asp731Gly	2321	227369507		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792742	0.50102	.	.	ENSG00000169047	ENST00000305123	T	0.69175	-0.38	4.85	4.85	0.62838	.	0.064020	0.64402	D	0.000016	T	0.61615	0.2361	L	0.56199	1.76	0.54753	D	0.999989	P	0.34562	0.457	B	0.32624	0.149	T	0.64097	-0.6487	10	0.44086	T	0.13	-29.5004	14.6033	0.68456	0.0:0.0:0.0:1.0	.	731	P35568	IRS1_HUMAN	G	731	ENSP00000304895:D731G	ENSP00000304895:D731G	D	-	2	0	IRS1	227369507	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.495000	0.81514	2.043000	0.60533	0.459000	0.35465	GAC		0.602	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		C	227661263	T	C	227661263	3	2	115	1	0	0	0	0	1	0	0	0	7840	1667	58	4	1540	4	IRS1	2	227661263	Missense_Mutation	SNP	T	TCGA-13-0919-01A-01W-0419-10	69270736	227661263	15538110	9	6175	15	2									
IRS1	3667	hgsc.bcm.edu	37	2	227661266	227661267	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr2:227661266_227661267delCC	ENST00000305123.5	-	1	3208_3209	c.2188_2189delGG	c.(2188-2190)ggtfs	p.G730fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	730					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G730fs*1(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CATGTAGTCACCTGTGCAAGGT	0.599											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	ovary(1)	2																																								227369511	SO:0001589	frameshift_variant	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2188_2189delGG	2.37:g.227661266_227661267delCC	ENSP00000304895:p.Gly730fs	2321	227369510		Frame_Shift_Del	DEL	ENST00000305123.5	37	CCDS2463.1																																																																																				0.599	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		-	227661267	CC	-	227661266	7	5	115	1	0	1	0	1	0	0	0	0	7840	507	18	0	1543	0	IRS1	2	227661266	Frame_Shift_Del	DEL	CC	TCGA-13-0919-01A-01W-0419-10	3	227661266	15538107	10	6176	15	2									
C3orf32	51066	hgsc.bcm.edu	37	3	8672591	8672591	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr3:8672591C>A	ENST00000317371.4	-	13	1584	c.359G>T	c.(358-360)aGa>aTa	p.R120I	SSUH2_ENST00000415132.1_Missense_Mutation_p.R120I|SSUH2_ENST00000544814.1_Missense_Mutation_p.R142I|SSUH2_ENST00000341795.3_Missense_Mutation_p.R120I			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	120						cytoplasm (GO:0005737)		p.R120I(1)									GGAGGCGCCTCTTTGCGGCCC	0.527																																																1	Substitution - Missense(1)	ovary(1)	3											76	72	74					3																	8672591		2203	4300	6503	8647591	SO:0001583	missense	51066			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.359G>T	3.37:g.8672591C>A	ENSP00000324551:p.Arg120Ile		8647591	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571911	0.65765	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.46819	0.87;0.87;0.86;0.88;0.89	5.72	2.57	0.30868	.	0.236285	0.43747	D	0.000528	T	0.45776	0.1359	M	0.64997	1.995	0.41493	D	0.988237	D;P	0.53151	0.958;0.911	P;P	0.47981	0.563;0.483	T	0.39663	-0.9603	10	0.45353	T	0.12	-13.114	5.5711	0.17198	0.0:0.6227:0.0:0.3773	.	142;120	F5H2S5;Q9Y2M2	.;CC032_HUMAN	I	120;120;120;142;142	ENSP00000339150:R120I;ENSP00000324551:R120I;ENSP00000410757:R120I;ENSP00000439378:R142I;ENSP00000401289:R142I	ENSP00000324551:R120I	R	-	2	0	C3orf32	8647591	1.000000	0.71417	0.481000	0.27354	0.977000	0.68977	2.352000	0.44080	0.767000	0.33267	0.591000	0.81541	AGA		0.527	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		A	8672591	C	A	8672591	3	1	115	1	0	0	0	0	1	0	0	0	2222	913	32	3	730	3	C3orf32	3	8672591	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10		8672591	189349839	11	6177											
JAGN1	84522	hgsc.bcm.edu	37	3	9934740	9934740	+	Silent	SNP	G	G	A	rs572248666		TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr3:9934740G>A	ENST00000307768.4	+	2	400	c.231G>A	c.(229-231)ccG>ccA	p.P77P		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)									p.P77P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GGGAATACCCGTATTTGCTGA	0.517													G|||	1	0.000199681	0	0	5008	,	,		21188	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	3											207	156	173					3																	9934740		2203	4300	6503	9909740	SO:0001819	synonymous_variant	84522			AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.231G>A	3.37:g.9934740G>A			9909740		Silent	SNP	ENST00000307768.4	37	CCDS2588.1																																																																																				0.517	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		A	9934740	G	A	9934740	2	1	115	1	0	0	0	0	0	0	0	1	7936	1132	40	1		1	JAGN1	3	9934740	Silent	SNP	G	TCGA-13-0919-01A-01W-0419-10	1262149	9934740	188087690	12	6178											
TOPBP1	11073	hgsc.bcm.edu	37	3	133358869	133358869	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr3:133358869C>G	ENST00000260810.5	-	13	2298	c.2167G>C	c.(2167-2169)Gag>Cag	p.E723Q		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	723	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.E636Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTAGCAGTCTCCAACAGCCAA	0.368								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											1	Substitution - Missense(1)	ovary(1)	3											88	83	84					3																	133358869		1860	4096	5956	134841559	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2167G>C	3.37:g.133358869C>G	ENSP00000260810:p.Glu723Gln		134841559	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914757	0.33815	.	.	ENSG00000163781	ENST00000260810	T	0.13307	2.6	5.59	2.59	0.31030	BRCT (4);	0.402206	0.29403	N	0.012259	T	0.12603	0.0306	L	0.38838	1.175	0.41767	D	0.989745	B	0.23591	0.088	B	0.21151	0.033	T	0.06552	-1.0820	10	0.21014	T	0.42	.	18.2539	0.90012	0.0:0.5622:0.4378:0.0	.	723	Q92547	TOPB1_HUMAN	Q	723	ENSP00000260810:E723Q	ENSP00000260810:E723Q	E	-	1	0	TOPBP1	134841559	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.317000	0.43770	0.693000	0.31634	0.650000	0.86243	GAG		0.368	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		G	133358869	C	G	133358869	3	3	115	1	0	0	0	0	1	0	0	0	16369	864	30	3	2465	3	TOPBP1	3	133358869	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	123424129	133358869	64663561	13	6179											
CLCN2	1181	hgsc.bcm.edu	37	3	184070929	184070929	+	Missense_Mutation	SNP	T	T	A	rs138530764		TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr3:184070929T>A	ENST00000265593.4	-	18	2206	c.2035A>T	c.(2035-2037)Aca>Tca	p.T679S	CLCN2_ENST00000434054.2_Missense_Mutation_p.T635S|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000344937.7_Missense_Mutation_p.T662S|CLCN2_ENST00000457512.1_Missense_Mutation_p.T679S|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	679					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.T679S(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GAGTCTTCTGTGTTCACCTGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	3											87	101	96					3																	184070929		2203	4300	6503	185553623	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2035A>T	3.37:g.184070929T>A	ENSP00000265593:p.Thr679Ser		185553623	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	t	13.37	2.217197	0.39201	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.84730	-1.84;-1.79;-1.89;-1.86	5.58	-1.79	0.07932	.	0.547257	0.20898	N	0.083687	T	0.73768	0.3629	L	0.52364	1.645	0.80722	D	1	B;B;B;B;B	0.15930	0.009;0.009;0.015;0.009;0.009	B;B;B;B;B	0.20184	0.012;0.012;0.028;0.012;0.012	T	0.53865	-0.8378	10	0.19147	T	0.46	0.0012	3.5791	0.07945	0.2515:0.2466:0.0:0.5019	.	635;679;662;679;635	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	S	679;662;635;679	ENSP00000265593:T679S;ENSP00000345056:T662S;ENSP00000400425:T635S;ENSP00000391928:T679S	ENSP00000265593:T679S	T	-	1	0	CLCN2	185553623	0.994000	0.37717	0.976000	0.42696	0.906000	0.53458	0.423000	0.21313	-0.174000	0.10743	0.379000	0.24179	ACA		0.592	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			A	184070929	T	A	184070929	3	1	115	1	0	0	0	0	1	0	0	0	3463	1696	59	5	689	5	CLCN2	3	184070929	Missense_Mutation	SNP	T	TCGA-13-0919-01A-01W-0419-10	50712060	184070929	13951501	14	6180											
SLC4A4	8671	hgsc.bcm.edu	37	4	72412099	72412099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr4:72412099G>A	ENST00000264485.5	+	19	2592	c.2475G>A	c.(2473-2475)tgG>tgA	p.W825*	SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.W825*|SLC4A4_ENST00000340595.3_Nonsense_Mutation_p.W781*|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	825					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.W781*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATCTCTTTTGGGTGGCCATCC	0.438																																																1	Substitution - Nonsense(1)	ovary(1)	4											269	218	235					4																	72412099		2203	4300	6503	72630963	SO:0001587	stop_gained	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2475G>A	4.37:g.72412099G>A	ENSP00000264485:p.Trp825*		72630963	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Nonsense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	42	9.319782	0.99135	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000340595	.	.	.	5.55	5.55	0.83447	.	0.053182	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	19.5157	0.95162	0.0:0.0:1.0:0.0	.	.	.	.	X	825;825;781	.	ENSP00000264485:W825X	W	+	3	0	SLC4A4	72630963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.602000	0.87976	0.650000	0.86243	TGG		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		A	72412099	G	A	72412099	4	1	115	1	0	0	0	0	0	1	0	0	14659	1241	43	2	2666	2	SLC4A4	4	72412099	Nonsense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10		72412099	118742177	15	6181											
ARHGEF37	389337	hgsc.bcm.edu	37	5	149011739	149011739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr5:149011739G>A	ENST00000333677.6	+	13	2176	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	671						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.W671*(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGTGGGGCTGGAGTCTGCCCT	0.577																																																1	Substitution - Nonsense(1)	ovary(1)	5											64	66	65					5																	149011739		1907	4130	6037	148991932	SO:0001587	stop_gained	389337			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.2013G>A	5.37:g.149011739G>A	ENSP00000328083:p.Trp671*		148991932	Q6ZW51	Nonsense_Mutation	SNP	ENST00000333677.6	37	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	36	5.868543	0.97043	.	.	ENSG00000183111	ENST00000333677	.	.	.	5.44	5.44	0.79542	.	0.146288	0.49305	D	0.000142	.	.	.	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8126	0.88620	0.0:0.0:1.0:0.0	.	.	.	.	X	671	.	ENSP00000328083:W671X	W	+	3	0	ARHGEF37	148991932	1.000000	0.71417	0.997000	0.53966	0.299000	0.27559	7.475000	0.81041	2.545000	0.85829	0.655000	0.94253	TGG		0.577	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		A	149011739	G	A	149011739	4	1	115	1	0	0	0	0	0	1	0	0	906	1183	41	2	2059	2	ARHGEF37	5	149011739	Nonsense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10		149011739	31903521	16	6182											
GABRA1	2554	hgsc.bcm.edu	37	5	161300148	161300148	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr5:161300148G>A	ENST00000428797.2	+	6	636	c.281G>A	c.(280-282)cGt>cAt	p.R94H	GABRA1_ENST00000444819.1_Missense_Mutation_p.R94H|GABRA1_ENST00000393943.4_Missense_Mutation_p.R94H|GABRA1_ENST00000437025.2_Missense_Mutation_p.R94H|GABRA1_ENST00000420560.1_Missense_Mutation_p.R94H|GABRA1_ENST00000023897.6_Missense_Mutation_p.R94H	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	94					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R94H(2)|p.R94L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTATTTTTCCGTCAAAGCTGG	0.373																																																3	Substitution - Missense(3)	urinary_tract(1)|ovary(1)|lung(1)	5											91	98	96					5																	161300148		2203	4300	6503	161232726	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.281G>A	5.37:g.161300148G>A	ENSP00000393097:p.Arg94His		161232726	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525396	0.96431	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.107484	0.64402	D	0.000008	D	0.91133	0.7208	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.91782	0.5436	10	0.87932	D	0	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	94	P14867	GBRA1_HUMAN	H	94	ENSP00000023897:R94H;ENSP00000393097:R94H;ENSP00000377517:R94H;ENSP00000415441:R94H;ENSP00000408041:R94H;ENSP00000414232:R94H;ENSP00000430435:R94H	ENSP00000023897:R94H	R	+	2	0	GABRA1	161232726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.717000	0.92951	0.585000	0.79938	CGT		0.373	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		A	161300148	G	A	161300148	3	1	115	1	0	0	0	0	1	0	0	0	6160	1145	40	1	295	1	GABRA1	5	161300148	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10	12288409	161300148	19615112	17	6183											
OR11A1	26531	hgsc.bcm.edu	37	6	29394572	29394572	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr6:29394572T>A	ENST00000377149.1	-	5	1319	c.847A>T	c.(847-849)Acc>Tcc	p.T283S	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.T283S|OR11A1_ENST00000377147.2_Missense_Mutation_p.T283S			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T283S(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AAGAGAGGGGTGACCACAGTG	0.473																																																1	Substitution - Missense(1)	ovary(1)	6											146	138	141					6																	29394572		1511	2709	4220	29502551	SO:0001583	missense	26531				CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.847A>T	6.37:g.29394572T>A	ENSP00000366354:p.Thr283Ser		29502551	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644788	0.47258	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.35605	1.3;1.3;1.3	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001072	T	0.47340	0.1440	M	0.85777	2.775	0.29161	N	0.87778	D	0.89917	1.0	D	0.80764	0.994	T	0.42207	-0.9465	10	0.87932	D	0	-25.0926	7.9813	0.30185	0.0:0.0:0.2068:0.7932	.	283	Q9GZK7	O11A1_HUMAN	S	283	ENSP00000366353:T283S;ENSP00000366354:T283S;ENSP00000366352:T283S	ENSP00000366352:T283S	T	-	1	0	OR11A1	29502551	0.895000	0.30542	0.992000	0.48379	0.575000	0.36095	0.897000	0.28390	1.370000	0.46153	0.338000	0.21704	ACC		0.473	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			A	29394572	T	A	29394572	3	1	115	1	0	0	0	0	1	0	0	0	10924	1696	59	5	104	5	OR11A1	6	29394572	Missense_Mutation	SNP	T	TCGA-13-0919-01A-01W-0419-10		29394572	141720495	18	6184											
FTSJD2	23070	hgsc.bcm.edu	37	6	37429339	37429339	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr6:37429339G>C	ENST00000373451.4	+	11	1274	c.1110G>C	c.(1108-1110)gaG>gaC	p.E370D	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	370	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.E370D(1)									TCTCGGTGGAGGGGCAGGAGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											110	105	107					6																	37429339		2203	4300	6503	37537317	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1110G>C	6.37:g.37429339G>C	ENSP00000362550:p.Glu370Asp		37537317	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913325	0.72983	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.30714	1.52;1.52	5.64	1.76	0.24704	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.045481	0.85682	D	0.000000	T	0.15132	0.0365	L	0.46741	1.465	0.54753	D	0.999988	P;B	0.40578	0.722;0.078	B;B	0.43536	0.423;0.207	T	0.02610	-1.1134	10	0.48119	T	0.1	-28.7352	8.1473	0.31119	0.4118:0.0:0.5882:0.0	.	314;370	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	D	370;314;314	ENSP00000362550:E370D;ENSP00000414233:E314D	ENSP00000362526:E314D	E	+	3	2	FTSJD2	37537317	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.377000	0.34317	0.026000	0.15269	0.591000	0.81541	GAG		0.512	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		C	37429339	G	C	37429339	3	2	115	1	0	0	0	0	1	0	0	0	6091	991	35	3	1148	3	FTSJD2	6	37429339	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10	8034767	37429339	133685728	19	6185											
FBXO30	84085	hgsc.bcm.edu	37	6	146125581	146125581	+	Missense_Mutation	SNP	C	C	T	rs35721211	byFrequency	TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr6:146125581C>T	ENST00000237281.4	-	2	2127	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	654							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R654H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GACCATGCCACGAGACTGAAG	0.443													C|||	5	0.000998403	0.0038	0	5008	,	,		20412	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6						C	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	146	138	141		1961	5	1	6	dbSNP_126	141	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBXO30	NM_032145.4	29	0,11,6492	TT,TC,CC		0.0116,0.227,0.0846	probably-damaging	654/746	146125581	11,12995	2203	4300	6503	146167274	SO:0001583	missense	84085			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1961G>A	6.37:g.146125581C>T	ENSP00000237281:p.Arg654His		146167274	Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232538	0.58777	0.00227	1.16E-4	ENSG00000118496	ENST00000237281	T	0.60171	0.21	5.86	4.99	0.66335	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.74647	2.275	0.54753	D	0.999988	D	0.71674	0.998	D	0.65874	0.939	T	0.74435	-0.3666	10	0.87932	D	0	-16.5277	14.9501	0.71067	0.0:0.9317:0.0:0.0683	rs35721211	654	Q8TB52	FBX30_HUMAN	H	654	ENSP00000237281:R654H	ENSP00000237281:R654H	R	-	2	0	FBXO30	146167274	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.083000	0.71326	1.490000	0.48466	-0.148000	0.13756	CGT		0.443	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			T	146125581	C	T	146125581	3	4	115	1	0	0	0	0	1	0	0	0	5740	536	19	1	284	1	FBXO30	6	146125581	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	108696242	146125581	24989486	20	6186											
SYNE1	23345	hgsc.bcm.edu	37	6	152644792	152644792	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr6:152644792C>A	ENST00000367255.5	-	82	16339	c.15738G>T	c.(15736-15738)gaG>gaT	p.E5246D	SYNE1_ENST00000448038.1_Missense_Mutation_p.E5175D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4939D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E5175D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E5246D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5246					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E5246D(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTAAGAGCTCTGCTTTCG	0.488										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											102	95	97					6																	152644792		2203	4300	6503	152686485	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15738G>T	6.37:g.152644792C>A	ENSP00000356224:p.Glu5246Asp		152686485	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	7.890	0.732120	0.15507	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.25	-3.75	0.04372	.	0.000000	0.56097	D	0.000028	T	0.27866	0.0686	M	0.79805	2.47	0.80722	D	1	P;P;P;P	0.52692	0.89;0.682;0.682;0.955	P;B;B;P	0.47430	0.547;0.105;0.105;0.525	T	0.39840	-0.9594	10	0.44086	T	0.13	.	12.4143	0.55483	0.0:0.6199:0.1128:0.2674	.	5246;5246;5246;5175	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	5246;5175;5246;5175;4939	ENSP00000356224:E5246D;ENSP00000396024:E5175D;ENSP00000265368:E5246D;ENSP00000390975:E5175D;ENSP00000341887:E4939D	ENSP00000265368:E5246D	E	-	3	2	SYNE1	152686485	0.000000	0.05858	0.502000	0.27614	0.020000	0.10135	-2.762000	0.00785	-1.130000	0.02914	-1.120000	0.02017	GAG		0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152644792	C	A	152644792	3	1	115	1	0	0	0	0	1	0	0	0	15445	796	28	3	10988	3	SYNE1	6	152644792	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	6519211	152644792	18470275	21	6187											
RBM16	22828	hgsc.bcm.edu	37	6	155154016	155154016	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr6:155154016G>T	ENST00000367178.3	+	20	3879	c.3303G>T	c.(3301-3303)gaG>gaT	p.E1101D	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.E1167D|SCAF8_ENST00000417268.1_Missense_Mutation_p.E1101D	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1101					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.E1101D(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ATTTTGATGAGAGAGAGCATC	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											51	57	55					6																	155154016		2203	4300	6503	155195708	SO:0001583	missense	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3303G>T	6.37:g.155154016G>T	ENSP00000356146:p.Glu1101Asp		155195708	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358539	0.41801	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.59638	0.3;0.3;0.25	5.73	2.55	0.30701	.	0.142017	0.45361	U	0.000370	T	0.48732	0.1516	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.72625	0.978;0.978;0.978	T	0.52003	-0.8633	10	0.52906	T	0.07	.	7.0648	0.25145	0.4495:0.0:0.5505:0.0	.	1146;1167;1101	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	D	1101;1101;1167;62	ENSP00000356146:E1101D;ENSP00000413098:E1101D;ENSP00000356154:E1167D	ENSP00000356146:E1101D	E	+	3	2	TIAM2;SCAF8	155195708	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.080000	0.30779	0.778000	0.33520	-0.150000	0.13652	GAG		0.463	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		T	155154016	G	T	155154016	3	4	115	1	0	0	0	0	1	0	0	0	13121	933	33	3	3381	3	RBM16	6	155154016	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10	2509224	155154016	15961051	22	6188											
EGFR	1956	hgsc.bcm.edu	37	7	55249017	55249017	+	Missense_Mutation	SNP	C	C	G	rs121913445|rs397517115		TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr7:55249017C>G	ENST00000275493.2	+	20	2492	c.2315C>G	c.(2314-2316)cCc>cGc	p.P772R	EGFR_ENST00000454757.2_Missense_Mutation_p.P719R|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.P727R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	772	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.N771_P772>SVDNR(1)|p.P772_H773insTHP(1)|p.P772R(1)|p.D770_P772>ASVDNR(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGGACAACCCCCACGTGTGC	0.647		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	4	Complex - insertion inframe(2)|Substitution - Missense(1)|Insertion - In frame(1)	lung(3)|ovary(1)	7											106	96	99					7																	55249017		2203	4300	6503	55216511	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2315C>G	7.37:g.55249017C>G	ENSP00000275493:p.Pro772Arg		55216511	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343769	0.82022	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.68025	-0.3;-0.3;-0.3	5.85	5.85	0.93711	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74966	0.3786	L	0.28556	0.865	0.80722	D	1	P;D	0.89917	0.743;1.0	B;D	0.78314	0.173;0.991	T	0.76963	-0.2764	10	0.87932	D	0	.	18.7267	0.91716	0.0:1.0:0.0:0.0	.	727;772	Q504U8;P00533	.;EGFR_HUMAN	R	727;642;772;719	ENSP00000415559:P727R;ENSP00000275493:P772R;ENSP00000395243:P719R	ENSP00000275493:P772R	P	+	2	0	EGFR	55216511	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	7.788000	0.85771	2.760000	0.94817	0.655000	0.94253	CCC		0.647	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55249017	C	G	55249017	3	3	115	1	0	0	0	0	1	0	0	0	4967	623	22	3	2657	3	EGFR	7	55249017	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10		55249017	103889646	23	6189											
PRPF4	9128	hgsc.bcm.edu	37	9	116044948	116044948	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr9:116044948G>A	ENST00000374198.4	+	4	520	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	PRPF4_ENST00000374199.4_Missense_Mutation_p.V139I|PRPF4_ENST00000488937.1_3'UTR	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	140					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.V140I(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CCTCTCAGTTGTCGGTACTGA	0.308																																																1	Substitution - Missense(1)	ovary(1)	9											78	75	76					9																	116044948		2203	4300	6503	115084769	SO:0001583	missense	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.418G>A	9.37:g.116044948G>A	ENSP00000363313:p.Val140Ile		115084769	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090104	0.36855	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.62498	0.02;0.07	5.9	5.9	0.94986	Splicing factor motif (1);	0.277862	0.35466	N	0.003181	T	0.55049	0.1896	L	0.35723	1.085	0.52501	D	0.999953	B;B	0.16396	0.017;0.017	B;B	0.12156	0.007;0.007	T	0.45833	-0.9234	10	0.24483	T	0.36	.	19.2604	0.93966	0.0:0.0:1.0:0.0	.	155;140	Q59EL4;O43172	.;PRP4_HUMAN	I	139;140	ENSP00000363315:V139I;ENSP00000363313:V140I	ENSP00000363313:V140I	V	+	1	0	PRPF4	115084769	1.000000	0.71417	0.440000	0.26846	0.961000	0.63080	6.742000	0.74843	2.793000	0.96121	0.563000	0.77884	GTC		0.308	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		A	116044948	G	A	116044948	3	1	115	1	0	0	0	0	1	0	0	0	12573	1377	48	2	432	2	PRPF4	9	116044948	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10		116044948	25168483	24	6190											
ACTR1A	10121	hgsc.bcm.edu	37	10	104240898	104240898	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr10:104240898G>C	ENST00000369905.4	-	10	1082	c.1019C>G	c.(1018-1020)aCg>aGg	p.T340R	ACTR1A_ENST00000545684.1_Missense_Mutation_p.T266R|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000487599.1_Missense_Mutation_p.H319Q|ACTR1A_ENST00000446605.2_Missense_Mutation_p.T293R	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	340					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)	p.T340R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCCAATCCACGTGGAATACAG	0.502																																																1	Substitution - Missense(1)	ovary(1)	10											127	126	127					10																	104240898		2203	4300	6503	104230888	SO:0001583	missense	10121			X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.1019C>G	10.37:g.104240898G>C	ENSP00000358921:p.Thr340Arg		104230888	B2R6B0|P42024	Missense_Mutation	SNP	ENST00000369905.4	37	CCDS7536.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157417	0.94686	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.94966	-3.57;-3.57;-3.57	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99053	1.0828	10	0.87932	D	0	.	19.9335	0.97129	0.0:0.0:1.0:0.0	.	340	P61163	ACTZ_HUMAN	R	340;266;293	ENSP00000358921:T340R;ENSP00000438890:T266R;ENSP00000406028:T293R	ENSP00000358921:T340R	T	-	2	0	ACTR1A	104230888	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.256000	0.95535	2.722000	0.93159	0.462000	0.41574	ACG		0.502	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1			C	104240898	G	C	104240898	3	2	115	1	0	0	0	0	1	0	0	0	209	1145	40	3	119	3	ACTR1A	10	104240898	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10		104240898	31293849	25	6191											
CTSF	8722	hgsc.bcm.edu	37	11	66333351	66333352	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr11:66333351_66333352delCT	ENST00000310325.5	-	7	1023_1024	c.914_915delAG	c.(913-915)gagfs	p.E305fs	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	305				E -> K (in Ref. 5; AAF13146). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.E305fs*15(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACCACTGGCCCTCCACATTGCC	0.624																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								66089928	SO:0001589	frameshift_variant	8722			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.914_915delAG	11.37:g.66333351_66333352delCT	ENSP00000310832:p.Glu305fs		66089927	B2R964|O95240|Q9NSU4|Q9UKQ5	Frame_Shift_Del	DEL	ENST00000310325.5	37	CCDS8144.1																																																																																				0.624	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		-	66333352	CT	-	66333351	7	5	115	1	0	1	0	1	0	0	0	0	4034	680	24	0	567	0	CTSF	11	66333351	Frame_Shift_Del	DEL	CT	TCGA-13-0919-01A-01W-0419-10		66333351	68673165	26	6192											
MTL5	9633	hgsc.bcm.edu	37	11	68512557	68512557	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr11:68512557C>G	ENST00000255087.5	-	4	836	c.653G>C	c.(652-654)gGc>gCc	p.G218A	MTL5_ENST00000443940.2_Missense_Mutation_p.G218A|MTL5_ENST00000544963.1_Missense_Mutation_p.G218A|MTL5_ENST00000540869.1_Intron	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	218					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G218A(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CATTTGTGTGCCCCCTTTCAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	11											134	130	132					11																	68512557		2200	4293	6493	68269133	SO:0001583	missense	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.653G>C	11.37:g.68512557C>G	ENSP00000255087:p.Gly218Ala		68269133	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229141	0.79688	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.70631	0.56;-0.5;0.08	5.35	5.35	0.76521	.	0.000000	0.52532	D	0.000063	T	0.77598	0.4154	L	0.34521	1.04	0.38303	D	0.943023	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79624	-0.1726	10	0.46703	T	0.11	-16.753	16.8394	0.85964	0.0:1.0:0.0:0.0	.	218;218	Q9Y4I5-3;Q9Y4I5	.;MTL5_HUMAN	A	218	ENSP00000255087:G218A;ENSP00000403086:G218A;ENSP00000440968:G218A	ENSP00000255087:G218A	G	-	2	0	MTL5	68269133	0.988000	0.35896	0.972000	0.41901	0.985000	0.73830	4.255000	0.58804	2.479000	0.83701	0.655000	0.94253	GGC		0.313	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		G	68512557	C	G	68512557	3	3	115	1	0	0	0	0	1	0	0	0	9936	739	26	3	905	3	MTL5	11	68512557	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	2179206	68512557	66493959	27	6193											
OR8B2	26595	hgsc.bcm.edu	37	11	124253129	124253129	+	Silent	SNP	G	G	T			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr11:124253129G>T	ENST00000375013.2	-	1	129	c.111C>A	c.(109-111)gtC>gtA	p.V37V		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V37V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTACCATGGTGACAATGTAGA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	11											215	185	195					11																	124253129		2201	4299	6500	123758339	SO:0001819	synonymous_variant	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.111C>A	11.37:g.124253129G>T			123758339	Q8NGH2	Silent	SNP	ENST00000375013.2	37	CCDS31708.1																																																																																				0.418	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		T	124253129	G	T	124253129	2	4	115	1	0	0	0	0	0	0	0	1	11227	1277	45	3		3	OR8B2	11	124253129	Silent	SNP	G	TCGA-13-0919-01A-01W-0419-10	55740572	124253129	10753387	28	6194											
KCNA1	3736	hgsc.bcm.edu	37	12	5021069	5021069	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr12:5021069G>A	ENST00000382545.3	+	2	1632	c.525G>A	c.(523-525)atG>atA	p.M175I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	175					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.M175I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCTCCGTCATGGTCATCCTCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											91	89	89					12																	5021069		2203	4300	6503	4891330	SO:0001583	missense	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.525G>A	12.37:g.5021069G>A	ENSP00000371985:p.Met175Ile		4891330	A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010227	0.54361	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.67865	-0.29	4.71	4.71	0.59529	.	0.040366	0.85682	D	0.000000	T	0.62097	0.2400	L	0.45470	1.425	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.61048	-0.7141	10	0.56958	D	0.05	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	175	Q09470	KCNA1_HUMAN	I	175	ENSP00000371985:M175I	ENSP00000228858:M175I	M	+	3	0	KCNA1	4891330	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.531000	0.98054	2.606000	0.88127	0.655000	0.94253	ATG		0.622	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		A	5021069	G	A	5021069	3	1	115	1	0	0	0	0	1	0	0	0	8001	1348	47	2	527	2	KCNA1	12	5021069	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10		5021069	128830826	29	6195											
KRT6A	3853	hgsc.bcm.edu	37	12	52882327	52882327	+	Silent	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr12:52882327G>A	ENST00000330722.6	-	7	1277	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	403	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A403A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCAGGTTGGCGCACTGGA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	12											67	62	64					12																	52882327		2203	4300	6503	51168594	SO:0001819	synonymous_variant	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1209C>T	12.37:g.52882327G>A			51168594	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				0.567	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		A	52882327	G	A	52882327	2	1	115	1	0	0	0	0	0	0	0	1	8480	1335	47	2		2	KRT6A	12	52882327	Silent	SNP	G	TCGA-13-0919-01A-01W-0419-10	47861258	52882327	80969568	30	6196											
ACAD10	80724	hgsc.bcm.edu	37	12	112193479	112193479	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr12:112193479C>T	ENST00000313698.4	+	20	3124	c.2969C>T	c.(2968-2970)gCc>gTc	p.A990V	RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.P12S|ACAD10_ENST00000455480.2_Missense_Mutation_p.A1021V	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	990						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.A990V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CAGGCTGCAGCCTTGGATATA	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											116	118	117					12																	112193479		2203	4300	6503	110677862	SO:0001583	missense	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2969C>T	12.37:g.112193479C>T	ENSP00000325137:p.Ala990Val		110677862	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762751	0.69763	.	.	ENSG00000111271	ENST00000455480;ENST00000313698;ENST00000512792;ENST00000546899	D;D	0.96011	-3.88;-3.88	4.98	4.98	0.66077	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.502070	0.19052	N	0.124001	D	0.96213	0.8765	M	0.62209	1.925	0.80722	D	1	B;P	0.38473	0.36;0.633	B;P	0.49421	0.239;0.61	D	0.96056	0.9035	10	0.52906	T	0.07	.	17.1614	0.86804	0.0:1.0:0.0:0.0	.	1021;990	G3XAJ0;Q6JQN1	.;ACD10_HUMAN	V	1021;990;145;10	ENSP00000389813:A1021V;ENSP00000325137:A990V	ENSP00000325137:A990V	A	+	2	0	ACAD10	110677862	0.996000	0.38824	0.933000	0.37362	0.953000	0.61014	3.598000	0.54038	2.571000	0.86741	0.561000	0.74099	GCC		0.542	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		T	112193479	C	T	112193479	3	4	115	1	0	0	0	0	1	0	0	0	108	739	26	2	3140	2	ACAD10	12	112193479	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	59311152	112193479	21658416	31	6197											
RASAL1	8437	hgsc.bcm.edu	37	12	113544933	113544934	+	Frame_Shift_Ins	INS	-	-	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr12:113544933_113544934insA	ENST00000261729.5	-	16	1940_1941	c.1625_1626insT	c.(1624-1626)ctgfs	p.L542fs	RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.L542fs|RASAL1_ENST00000546530.1_Frame_Shift_Ins_p.L543fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.L542fs			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	542					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCAGCCGGTCCAGGAAGTCTCT	0.604																																																0			12																																								112029317	SO:0001589	frameshift_variant	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1626dupT	12.37:g.113544934_113544934dupA	ENSP00000261729:p.Leu542fs		112029316	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Frame_Shift_Ins	INS	ENST00000261729.5	37	CCDS9165.1																																																																																				0.604	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113544934	-	A	113544933	7	5	115	1	0	1	1	0	0	0	0	0	13066	581	21	0	816	0	RASAL1	12	113544933	Frame_Shift_Ins	INS	-	TCGA-13-0919-01A-01W-0419-10	1351454	113544933	20306962	32	6198											
SALL2	6297	hgsc.bcm.edu	37	14	21990979	21990979	+	Silent	SNP	C	C	T			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr14:21990979C>T	ENST00000327430.3	-	2	3177	c.2883G>A	c.(2881-2883)ctG>ctA	p.L961L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.L824L|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	961					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L961L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGTGGTGTGCCAGGAGCATAT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	14											66	63	64					14																	21990979		2203	4300	6503	21060819	SO:0001819	synonymous_variant	6297			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2883G>A	14.37:g.21990979C>T			21060819	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	0.939	-0.710050	0.03230	.	.	ENSG00000165821	ENST00000546363	.	.	.	5.18	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.0105	6.6381	0.22895	0.177:0.7309:0.0:0.0921	.	.	.	.	X	820	.	.	W	-	2	0	SALL2	21060819	1.000000	0.71417	0.993000	0.49108	0.449000	0.32228	1.364000	0.34171	1.165000	0.42670	0.462000	0.41574	TGG		0.577	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		T	21990979	C	T	21990979	2	4	115	1	0	0	0	0	0	0	0	1	13814	581	21	2		2	SALL2	14	21990979	Silent	SNP	C	TCGA-13-0919-01A-01W-0419-10		21990979	85358561	33	6199											
C14orf4	64207	hgsc.bcm.edu	37	14	77493549	77493549	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr14:77493549G>A	ENST00000238647.3	-	1	1485	c.587C>T	c.(586-588)cCa>cTa	p.P196L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	196	Gly/Pro-rich.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P196L(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAAGCCGTTTGGGCCCCCCAG	0.687																																																1	Substitution - Missense(1)	ovary(1)	14											31	30	30					14																	77493549		2200	4299	6499	76563302	SO:0001583	missense	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.587C>T	14.37:g.77493549G>A	ENSP00000238647:p.Pro196Leu		76563302	Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076233	0.36662	.	.	ENSG00000119669	ENST00000238647	T	0.65178	-0.14	3.66	2.76	0.32466	.	0.000000	0.56097	U	0.000029	T	0.45196	0.1330	L	0.38175	1.15	0.44852	D	0.99786	B	0.06786	0.001	B	0.04013	0.001	T	0.19582	-1.0301	10	0.17369	T	0.5	0.0421	7.2918	0.26370	0.2101:0.0:0.7899:0.0	.	196	Q9H1B7	I2BPL_HUMAN	L	196	ENSP00000238647:P196L	ENSP00000238647:P196L	P	-	2	0	IRF2BPL	76563302	1.000000	0.71417	0.983000	0.44433	0.935000	0.57460	3.137000	0.50562	0.742000	0.32697	0.298000	0.19748	CCA		0.687	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		A	77493549	G	A	77493549	3	1	115	1	0	0	0	0	1	0	0	0	1773	1348	47	2	1807	2	C14orf4	14	77493549	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10	55502570	77493549	29855991	34	6200											
DUOX1	53905	hgsc.bcm.edu	37	15	45426426	45426426	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr15:45426426C>G	ENST00000321429.4	+	5	633	c.226C>G	c.(226-228)Cga>Gga	p.R76G	DUOX1_ENST00000389037.3_Missense_Mutation_p.R76G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	76	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.R76G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCCAACCCCCGAGACCTTAG	0.627																																																1	Substitution - Missense(1)	ovary(1)	15											41	45	44					15																	45426426		2198	4298	6496	43213718	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.226C>G	15.37:g.45426426C>G	ENSP00000317997:p.Arg76Gly		43213718	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722126	0.48728	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.72505	-0.66;-0.66	5.01	3.08	0.35506	.	0.000000	0.85682	D	0.000000	D	0.87696	0.6242	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89395	0.3691	10	0.87932	D	0	-16.6459	11.334	0.49492	0.5088:0.4912:0.0:0.0	.	76	Q9NRD9	DUOX1_HUMAN	G	76	ENSP00000317997:R76G;ENSP00000373689:R76G	ENSP00000317997:R76G	R	+	1	2	DUOX1	43213718	0.986000	0.35501	0.963000	0.40424	0.356000	0.29392	2.480000	0.45206	0.771000	0.33359	-0.169000	0.13324	CGA		0.627	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		G	45426426	C	G	45426426	3	3	115	1	0	0	0	0	1	0	0	0	4800	644	23	3	236	3	DUOX1	15	45426426	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10		45426426	57104966	35	6201											
NTRK3	4916	hgsc.bcm.edu	37	15	88576170	88576170	+	Silent	SNP	C	C	G	rs201918746		TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr15:88576170C>G	ENST00000360948.2	-	13	1664	c.1503G>C	c.(1501-1503)gtG>gtC	p.V501V	NTRK3_ENST00000542733.2_Silent_p.V403V|NTRK3_ENST00000357724.2_Silent_p.V493V|NTRK3_ENST00000355254.2_Silent_p.V501V|NTRK3_ENST00000394480.2_Silent_p.V501V|NTRK3_ENST00000317501.3_Silent_p.V501V|NTRK3_ENST00000558676.1_Silent_p.V493V|NTRK3_ENST00000540489.2_Silent_p.V501V|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Silent_p.V493V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	501					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V501V(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCCAATGACCACAGTGTCGG	0.587			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	1	Substitution - coding silent(1)	ovary(1)	15											108	73	85					15																	88576170		2201	4299	6500	86377174	SO:0001819	synonymous_variant	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1503G>C	15.37:g.88576170C>G			86377174	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																				0.587	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				G	88576170	C	G	88576170	2	3	115	1	0	0	0	0	0	0	0	1	10708	581	21	3		3	NTRK3	15	88576170	Silent	SNP	C	TCGA-13-0919-01A-01W-0419-10	43149744	88576170	13955222	36	6202											
ZFHX3	463	hgsc.bcm.edu	37	16	72991600	72991600	+	Silent	SNP	C	C	G			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr16:72991600C>G	ENST00000268489.5	-	2	3117	c.2445G>C	c.(2443-2445)gtG>gtC	p.V815V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	815					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V815V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTTCCTGGCCACGTTGGTCT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	16											207	174	185					16																	72991600		2198	4300	6498	71549101	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2445G>C	16.37:g.72991600C>G			71549101	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		G	72991600	C	G	72991600	2	3	115	1	0	0	0	0	0	0	0	1	17634	581	21	3		3	ZFHX3	16	72991600	Silent	SNP	C	TCGA-13-0919-01A-01W-0419-10		72991600	17363153	37	6203											
ATP2A3	489	hgsc.bcm.edu	37	17	3831274	3831274	+	Intron	SNP	C	C	G	rs138187501		TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:3831274C>G	ENST00000352011.3	-	21	3123				ATP2A3_ENST00000397043.3_Intron|ATP2A3_ENST00000397039.1_Splice_Site|ATP2A3_ENST00000309890.7_Intron|ATP2A3_ENST00000359983.3_Splice_Site|ATP2A3_ENST00000397035.3_Intron|ATP2A3_ENST00000397041.3_Intron			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCGGAGCTCACCCCTGCTTCC	0.632																																					GBM(32;29 774 15719 37967)											1	Unknown(1)	ovary(1)	17											103	91	95					17																	3831274		2203	4300	6503	3778023	SO:0001627	intron_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.3068+259G>C	17.37:g.3831274C>G			3778023	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Splice_Site	SNP	ENST00000352011.3	37	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	2.108	-0.404542	0.04832	.	.	ENSG00000074370	ENST00000397039;ENST00000359983	.	.	.	3.89	-3.72	0.04411	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4203	0.04447	0.143:0.246:0.4217:0.1893	.	.	.	.	.	-1	.	.	.	-	.	.	ATP2A3	3778023	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	-0.179000	0.09768	-0.646000	0.05452	-0.339000	0.08088	.		0.632	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		G	3831274	C	G	3831274	1	3	115	0	1	0	0	0	0	0	0	0	1138	521	18	3		3	ATP2A3	17	3831274	Intron	SNP	C	TCGA-13-0919-01A-01W-0419-10		3831274	77363936	38	6204											
TP53	7157	hgsc.bcm.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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"	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	17											50	52	51					17																	7578461		2202	4300	6502	7519186	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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe		7519186	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578461	C	A	7578461	3	1	115	1	0	0	0	0	1	0	0	0	16381	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	3747187	7578461	73616749	39	6205											
EVI2B	2124	hgsc.bcm.edu	37	17	29632368	29632368	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:29632368G>A	ENST00000330927.4	-	2	414	c.260C>T	c.(259-261)aCc>aTc	p.T87I	NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.T87I|NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000544462.1_Missense_Mutation_p.T102I	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	87						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)|p.T87I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCAGAAGAGGTATAGACAGC	0.468																																																12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17											381	310	334					17																	29632368		2203	4300	6503	26656494	SO:0001583	missense	2124				CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.260C>T	17.37:g.29632368G>A	ENSP00000333779:p.Thr87Ile		26656494	B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	G	7.550	0.662543	0.14645	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.46063	0.89;0.88	5.17	-7.96	0.01144	.	1.368430	0.05311	N	0.524717	T	0.23451	0.0567	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19811	-1.0294	10	0.18276	T	0.48	-9.6085	9.54	0.39246	0.6097:0.1065:0.2838:0.0	.	102;87	B7Z4A7;P34910	.;EVI2B_HUMAN	I	87;102	ENSP00000333779:T87I;ENSP00000439738:T102I	ENSP00000333779:T87I	T	-	2	0	EVI2B	26656494	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.147000	0.03188	-1.290000	0.02372	-2.069000	0.00389	ACC		0.468	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		A	29632368	G	A	29632368	3	1	115	1	0	0	0	0	1	0	0	0	5288	1261	44	2	1090	2	EVI2B	17	29632368	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10	22053907	29632368	51562842	40	6206											
TOP2A	7153	hgsc.bcm.edu	37	17	38567608	38567608	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:38567608G>C	ENST00000423485.1	-	9	1221	c.1063C>G	c.(1063-1065)Cag>Gag	p.Q355E		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	355					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.Q355E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCACATACCTGATGTGCTTTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	17											177	163	167					17																	38567608		1877	4105	5982	35821134	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1063C>G	17.37:g.38567608G>C	ENSP00000411532:p.Gln355Glu		35821134	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709548	0.89018	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.23950	1.88	5.25	5.25	0.73442	Ribosomal protein S5 domain 2-type fold (1);DNA topoisomerase, type IIA, subunit B, domain 2 (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	M	0.78344	2.41	0.80722	D	1	P	0.49090	0.919	P	0.52031	0.688	T	0.36065	-0.9763	10	0.07644	T	0.81	.	19.1966	0.93691	0.0:0.0:1.0:0.0	.	355	P11388	TOP2A_HUMAN	E	355;354;354;391	ENSP00000411532:Q355E	ENSP00000269577:Q354E	Q	-	1	0	TOP2A	35821134	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.915000	0.87484	2.602000	0.87976	0.650000	0.86243	CAG		0.368	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			C	38567608	G	C	38567608	3	2	115	1	0	0	0	0	1	0	0	0	16365	1299	45	3	3640	3	TOP2A	17	38567608	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10	8935240	38567608	42627602	41	6207											
TOP2A	7153	hgsc.bcm.edu	37	17	38567939	38567939	+	Silent	SNP	G	G	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:38567939G>C	ENST00000423485.1	-	8	1079	c.921C>G	c.(919-921)ggC>ggG	p.G307G		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	307					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.G307G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTTGCTGAAAGCCTTTTTCAC	0.313																																																1	Substitution - coding silent(1)	ovary(1)	17											120	110	113					17																	38567939		1847	4089	5936	35821465	SO:0001819	synonymous_variant	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.921C>G	17.37:g.38567939G>C			35821465	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	CCDS45672.1																																																																																				0.313	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			C	38567939	G	C	38567939	2	2	115	1	0	0	0	0	0	0	0	1	16365	958	34	3		3	TOP2A	17	38567939	Silent	SNP	G	TCGA-13-0919-01A-01W-0419-10	331	38567939	42627271	42	6208											
KRT9	3857	hgsc.bcm.edu	37	17	39726212	39726212	+	Missense_Mutation	SNP	G	G	A	rs200992045		TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:39726212G>A	ENST00000246662.4	-	3	846	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	KRT9_ENST00000588431.1_Missense_Mutation_p.R28W	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	261	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.R261W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGCACCTGCCGCAGGCCATTG	0.527													G|||	1	0.000199681	0	0.0014	5008	,	,		20689	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	17											84	88	86					17																	39726212		2203	4300	6503	36979738	SO:0001583	missense	3857				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.781C>T	17.37:g.39726212G>A	ENSP00000246662:p.Arg261Trp		36979738	O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	CCDS32654.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.44	3.827459	0.71143	.	.	ENSG00000171403	ENST00000246662	D	0.92545	-3.06	4.96	-1.45	0.08828	Filament (1);	0.711463	0.10927	N	0.618793	D	0.95928	0.8674	M	0.92122	3.275	0.23144	N	0.998221	D	0.89917	1.0	D	0.65773	0.938	D	0.89249	0.3589	10	0.87932	D	0	.	9.884	0.41251	0.0659:0.0:0.4993:0.4348	.	261	P35527	K1C9_HUMAN	W	261	ENSP00000246662:R261W	ENSP00000246662:R261W	R	-	1	2	KRT9	36979738	0.024000	0.19004	0.581000	0.28614	0.983000	0.72400	0.999000	0.29757	0.091000	0.17302	0.491000	0.48974	CGG		0.527	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		A	39726212	G	A	39726212	3	1	115	1	0	0	0	0	1	0	0	0	8501	1086	38	1	1110	1	KRT9	17	39726212	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10	1158273	39726212	41468998	43	6209											
MLX	6945	hgsc.bcm.edu	37	17	40720868	40720868	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:40720868delT	ENST00000246912.4	+	4	398	c.345delT	c.(343-345)agtfs	p.S115fs	MLX_ENST00000435881.2_Frame_Shift_Del_p.S61fs|MLX_ENST00000346833.4_Frame_Shift_Del_p.S31fs	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	115					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S115fs*94(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ATGAGGACAGTGATTACCACC	0.597																																					GBM(121;657 1601 4665 24731 34640)											1	Deletion - Frameshift(1)	ovary(1)	17											36	31	33					17																	40720868		2203	4300	6503	37974394	SO:0001589	frameshift_variant	6945			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.345delT	17.37:g.40720868delT	ENSP00000246912:p.Ser115fs		37974394	A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Frame_Shift_Del	DEL	ENST00000246912.4	37	CCDS11430.1																																																																																				0.597	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		-	40720868	T	-	40720868	7	5	115	1	0	1	0	1	0	0	0	0	9635	1693	59	0	359	0	MLX	17	40720868	Frame_Shift_Del	DEL	T	TCGA-13-0919-01A-01W-0419-10	994656	40720868	40474342	44	6210											
CDC27	996	hgsc.bcm.edu	37	17	45216162	45216162	+	Missense_Mutation	SNP	A	A	C	rs111227623		TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:45216162A>C	ENST00000066544.3	-	13	1740	c.1647T>G	c.(1645-1647)gaT>gaG	p.D549E	CDC27_ENST00000446365.2_Missense_Mutation_p.D488E|CDC27_ENST00000527547.1_Missense_Mutation_p.D548E|CDC27_ENST00000531206.1_Missense_Mutation_p.D555E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	549					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.D549E(4)|p.D555E(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGAGCAACATCTTTTTGAA	0.348																																																6	Substitution - Missense(6)	large_intestine(4)|ovary(1)|lung(1)	17											46	51	49					17																	45216162		2202	4299	6501	42571161	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1647T>G	17.37:g.45216162A>C	ENSP00000066544:p.Asp549Glu		42571161	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	6.981	0.550975	0.13374	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.65364	-0.14;-0.15;0.15;-0.12	5.57	-0.476	0.12100	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.01473	-0.845	0.48040	D	0.999577	B;B;B;B	0.27192	0.052;0.171;0.171;0.052	B;B;B;B	0.27715	0.021;0.082;0.082;0.021	T	0.36261	-0.9755	10	0.02654	T	1	-6.7614	9.4643	0.38802	0.6029:0.0:0.3971:0.0	.	488;548;555;549	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	E	549;555;488;548	ENSP00000066544:D549E;ENSP00000434614:D555E;ENSP00000392802:D488E;ENSP00000437339:D548E	ENSP00000066544:D549E	D	-	3	2	CDC27	42571161	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.462000	0.35266	-0.146000	0.11274	-0.256000	0.11100	GAT		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			C	45216162	A	C	45216162	3	2	115	1	0	0	0	0	1	0	0	0	3066	214	8	5	855	5	CDC27	17	45216162	Missense_Mutation	SNP	A	TCGA-13-0919-01A-01W-0419-10	4495294	45216162	35979048	45	6211											
HSF5	124535	hgsc.bcm.edu	37	17	56540187	56540187	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:56540187A>T	ENST00000323777.3	-	4	1607	c.1498T>A	c.(1498-1500)Tca>Aca	p.S500T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	500					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S500T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATACTACTGAAGATGGAGAT	0.438																																																1	Substitution - Missense(1)	ovary(1)	17											211	188	196					17																	56540187		2203	4300	6503	53895186	SO:0001583	missense	124535			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1498T>A	17.37:g.56540187A>T	ENSP00000313243:p.Ser500Thr		53895186	Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.186373	0.78789	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.73047	-0.71	5.57	5.57	0.84162	.	0.000000	0.52532	D	0.000080	T	0.74207	0.3686	L	0.27053	0.805	0.34539	D	0.710102	D	0.58268	0.982	D	0.67548	0.952	T	0.82538	-0.0407	10	0.87932	D	0	.	13.1131	0.59285	1.0:0.0:0.0:0.0	.	500	Q4G112	HSF5_HUMAN	T	400;500	ENSP00000313243:S500T	ENSP00000313243:S500T	S	-	1	0	HSF5	53895186	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.290000	0.33319	2.127000	0.65507	0.528000	0.53228	TCA		0.438	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		T	56540187	A	T	56540187	3	4	115	1	0	0	0	0	1	0	0	0	7399	246	9	5	304	5	HSF5	17	56540187	Missense_Mutation	SNP	A	TCGA-13-0919-01A-01W-0419-10	11324025	56540187	24655023	46	6212											
TEX14	56155	hgsc.bcm.edu	37	17	56638929	56638929	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr17:56638929G>A	ENST00000240361.8	-	30	4332	c.4247C>T	c.(4246-4248)cCa>cTa	p.P1416L	TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000389934.3_Missense_Mutation_p.P1410L|TEX14_ENST00000349033.5_Missense_Mutation_p.P1370L			Q8IWB6	TEX14_HUMAN	testis expressed 14	1416					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.P1370L(1)|p.P1416L(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCTCAGGTGGCTGCAGCCA	0.498																																																2	Substitution - Missense(2)	ovary(2)	17											142	138	139					17																	56638929		2203	4300	6503	53993928	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4247C>T	17.37:g.56638929G>A	ENSP00000240361:p.Pro1416Leu		53993928	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010829	0.35511	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.22945	1.93;1.93;1.93	5.09	-0.47	0.12131	.	0.778438	0.11564	N	0.551474	T	0.17365	0.0417	L	0.40543	1.245	0.29079	N	0.882807	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.11329	0.003;0.006;0.006	T	0.21724	-1.0237	10	0.42905	T	0.14	0.4006	4.1484	0.10227	0.3354:0.0:0.5123:0.1523	.	1416;1370;1410	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	L	1416;1410;1370	ENSP00000240361:P1416L;ENSP00000374584:P1410L;ENSP00000268910:P1370L	ENSP00000240361:P1416L	P	-	2	0	TEX14	53993928	0.992000	0.36948	0.899000	0.35326	0.977000	0.68977	0.375000	0.20518	-0.162000	0.10964	0.655000	0.94253	CCA		0.498	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			A	56638929	G	A	56638929	3	1	115	1	0	0	0	0	1	0	0	0	15778	1348	47	2	262	2	TEX14	17	56638929	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10	98742	56638929	24556281	47	6213											
POLI	11201	hgsc.bcm.edu	37	18	51797772	51797772	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr18:51797772G>C	ENST00000579534.1	+	2	301	c.158G>C	c.(157-159)aGa>aCa	p.R53T	POLI_ENST00000406285.3_Missense_Mutation_p.R53T|POLI_ENST00000217800.5_5'UTR|POLI_ENST00000579434.1_Intron	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	53					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R28T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GCTTCATCCAGAGTCATAGTA	0.368								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	ovary(1)	18											119	109	113					18																	51797772		2203	4300	6503	50051770	SO:0001583	missense	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.158G>C	18.37:g.51797772G>C	ENSP00000462664:p.Arg53Thr		50051770	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368606	0.82463	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.35421	1.31	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.54523	-0.8281	10	0.87932	D	0	-24.5573	17.401	0.87459	0.0:0.0:1.0:0.0	.	52;53	B7Z780;Q9UNA4	.;POLI_HUMAN	T	53	ENSP00000385196:R53T	ENSP00000217800:R53T	R	+	2	0	POLI	50051770	1.000000	0.71417	0.987000	0.45799	0.903000	0.53119	6.071000	0.71229	2.382000	0.81193	0.563000	0.77884	AGA		0.368	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		C	51797772	G	C	51797772	3	2	115	1	0	0	0	0	1	0	0	0	12203	942	33	3	164	3	POLI	18	51797772	Missense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10		51797772	26279476	48	6214											
PTPRS	5802	hgsc.bcm.edu	37	19	5222817	5222817	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr19:5222817T>C	ENST00000587303.1	-	17	3085	c.2986A>G	c.(2986-2988)Acg>Gcg	p.T996A	PTPRS_ENST00000588012.1_Missense_Mutation_p.T974A|PTPRS_ENST00000357368.4_Missense_Mutation_p.T996A|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.T992A|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000372412.4_Missense_Mutation_p.T997A|PTPRS_ENST00000348075.2_Missense_Mutation_p.T974A			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	996	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T996A(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCCTGCAGCGTGAGCGCGTTC	0.736																																																1	Substitution - Missense(1)	ovary(1)	19											12	16	15					19																	5222817		2105	4088	6193	5173817	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2986A>G	19.37:g.5222817T>C	ENSP00000467537:p.Thr996Ala		5173817	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760814	0.49468	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.33	4.33	0.51752	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.275088	0.27881	U	0.017466	T	0.65903	0.2736	M	0.83603	2.65	0.80722	D	1	B;B	0.33448	0.373;0.412	B;B	0.40982	0.117;0.345	T	0.69506	-0.5127	10	0.46703	T	0.11	.	13.6454	0.62279	0.0:0.0:0.0:1.0	.	974;996	Q13332-6;Q13332	.;PTPRS_HUMAN	A	997;996;996;987;992;974	ENSP00000361489:T997A;ENSP00000349932:T996A;ENSP00000262963:T992A;ENSP00000269907:T974A	ENSP00000262963:T992A	T	-	1	0	PTPRS	5173817	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	4.944000	0.63561	1.829000	0.53265	0.455000	0.32223	ACG		0.736	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			C	5222817	T	C	5222817	3	2	115	1	0	0	0	0	1	0	0	0	12814	1696	59	4	2944	4	PTPRS	19	5222817	Missense_Mutation	SNP	T	TCGA-13-0919-01A-01W-0419-10		5222817	53906166	49	6215											
PDE4C	5143	hgsc.bcm.edu	37	19	18321934	18321934	+	Silent	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr19:18321934G>A	ENST00000355502.3	-	19	2815	c.1944C>T	c.(1942-1944)ccC>ccT	p.P648P	PDE4C_ENST00000597297.1_Silent_p.P418P|PDE4C_ENST00000594617.3_Silent_p.P648P|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000447275.3_Silent_p.P542P|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594465.3_Silent_p.P648P|PDE4C_ENST00000539010.1_Silent_p.P417P|PDE4C_ENST00000598111.2_Silent_p.P363P|PDE4C_ENST00000262805.12_Silent_p.P616P			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	648					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.P648P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CGTCCCGCTCGGGGTTGGTGA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	19											127	109	115					19																	18321934		2203	4300	6503	18182934	SO:0001819	synonymous_variant	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1944C>T	19.37:g.18321934G>A			18182934	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	CCDS12373.1																																																																																				0.582	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			A	18321934	G	A	18321934	2	1	115	1	0	0	0	0	0	0	0	1	11641	1103	39	1		1	PDE4C	19	18321934	Silent	SNP	G	TCGA-13-0919-01A-01W-0419-10	13099117	18321934	40807049	50	6216											
SLC17A7	57030	hgsc.bcm.edu	37	19	49935787	49935787	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr19:49935787delA	ENST00000221485.3	-	9	1310	c.1139delT	c.(1138-1140)atgfs	p.M380fs	SLC17A7_ENST00000543531.1_Frame_Shift_Del_p.M368fs|SLC17A7_ENST00000600601.1_Frame_Shift_Del_p.M313fs	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	380					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.M380fs*31(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCCGCAGTTCATCAACTTGCG	0.652																																																1	Deletion - Frameshift(1)	ovary(1)	19											17	19	19					19																	49935787		2201	4298	6499	54627599	SO:0001589	frameshift_variant	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1139delT	19.37:g.49935787delA	ENSP00000221485:p.Met380fs		54627599	B4DFR9|B4DG46|Q6PCD0	Frame_Shift_Del	DEL	ENST00000221485.3	37	CCDS12764.1																																																																																				0.652	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			-	49935787	A	-	49935787	7	5	115	1	0	1	0	1	0	0	0	0	14425	217	8	0	559	0	SLC17A7	19	49935787	Frame_Shift_Del	DEL	A	TCGA-13-0919-01A-01W-0419-10	31613853	49935787	9193196	51	6217											
RRAS	6237	hgsc.bcm.edu	37	19	50140343	50140343	+	Nonsense_Mutation	SNP	G	G	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr19:50140343G>C	ENST00000246792.3	-	2	300	c.198C>G	c.(196-198)taC>taG	p.Y66*		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	66					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.Y66*(1)		endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		AGATCTTCGTGTAGGAGTCCT	0.612																																																1	Substitution - Nonsense(1)	ovary(1)	19											103	89	94					19																	50140343		2203	4300	6503	54832155	SO:0001587	stop_gained	6237				CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"Oncogene RRAS"	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.198C>G	19.37:g.50140343G>C	ENSP00000246792:p.Tyr66*		54832155	Q6FH12	Nonsense_Mutation	SNP	ENST00000246792.3	37	CCDS12774.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681617	0.88542	.	.	ENSG00000126458	ENST00000246792	.	.	.	4.67	2.49	0.30216	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8091	0.29219	0.2909:0.0:0.7091:0.0	.	.	.	.	X	66	.	ENSP00000246792:Y66X	Y	-	3	2	RRAS	54832155	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	2.571000	0.45990	0.525000	0.28522	0.557000	0.71058	TAC		0.612	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		C	50140343	G	C	50140343	4	2	115	1	0	0	0	0	0	1	0	0	13679	1372	48	3	478	3	RRAS	19	50140343	Nonsense_Mutation	SNP	G	TCGA-13-0919-01A-01W-0419-10	204556	50140343	8988640	52	6218											
SNPH	9751	hgsc.bcm.edu	37	20	1285810	1285810	+	Silent	SNP	G	G	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr20:1285810G>A	ENST00000381873.3	+	6	833	c.597G>A	c.(595-597)gaG>gaA	p.E199E	SNPH_ENST00000381867.1_Silent_p.E243E	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	199					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.E199E(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCACTGGGGAGTCAGCCGGTG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	20											60	49	53					20																	1285810		2203	4300	6503	1233810	SO:0001819	synonymous_variant	9751				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.597G>A	20.37:g.1285810G>A			1233810	Q8IYI3	Silent	SNP	ENST00000381873.3	37	CCDS13012.1																																																																																				0.632	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		A	1285810	G	A	1285810	2	1	115	1	0	0	0	0	0	0	0	1	14853	1020	36	2		2	SNPH	20	1285810	Silent	SNP	G	TCGA-13-0919-01A-01W-0419-10		1285810	61739710	53	6219											
CPT1B	1375	hgsc.bcm.edu	37	22	51012845	51012845	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chr22:51012845delT	ENST00000360719.2	-	9	1026	c.889delA	c.(889-891)atgfs	p.M297fs	CPT1B_ENST00000312108.7_Frame_Shift_Del_p.M297fs|CPT1B_ENST00000440709.1_Frame_Shift_Del_p.M297fs|CPT1B_ENST00000395650.2_Frame_Shift_Del_p.M297fs|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Frame_Shift_Del_p.M94fs|CPT1B_ENST00000457250.1_Frame_Shift_Del_p.M263fs|CPT1B_ENST00000405237.3_Frame_Shift_Del_p.M297fs	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	297					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.M297fs*5(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCCAGTGCCATCACCTGAGGG	0.582																																					Esophageal Squamous(170;988 1933 25577 30295 48163)											1	Deletion - Frameshift(1)	ovary(1)	22											180	116	138					22																	51012845		2203	4300	6503	49359711	SO:0001589	frameshift_variant	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.889delA	22.37:g.51012845delT	ENSP00000353945:p.Met297fs		49359711	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Frame_Shift_Del	DEL	ENST00000360719.2	37	CCDS14098.1																																																																																				0.582	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		-	51012845	T	-	51012845	7	5	115	1	0	1	0	1	0	0	0	0	3832	1435	50	0	1473	0	CPT1B	22	51012845	Frame_Shift_Del	DEL	T	TCGA-13-0919-01A-01W-0419-10		51012845	291721	54	6220											
NLGN4X	57502	hgsc.bcm.edu	37	X	5821716	5821716	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chrX:5821716T>C	ENST00000381095.3	-	5	1630	c.1003A>G	c.(1003-1005)Acc>Gcc	p.T335A	NLGN4X_ENST00000538097.1_Missense_Mutation_p.T335A|NLGN4X_ENST00000381093.2_Missense_Mutation_p.T355A|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T335A|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T335A	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	335					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.T335A(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGTGGTAGGTGGCCGGGGTG	0.577																																																1	Substitution - Missense(1)	ovary(1)	X											182	125	144					X																	5821716		2203	4300	6503	5831716	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1003A>G	X.37:g.5821716T>C	ENSP00000370485:p.Thr335Ala		5831716	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	6.460	0.452973	0.12283	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.48624	0.1510	N	0.16708	0.43	0.33117	D	0.541359	B;B;B	0.28971	0.229;0.002;0.015	B;B;B	0.29440	0.102;0.014;0.026	T	0.55218	-0.8175	8	.	.	.	.	11.4714	0.50270	0.0:0.0:0.0:1.0	.	392;335;355	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	A	335;355;335;335;335	ENSP00000370485:T335A;ENSP00000370483:T355A;ENSP00000275857:T335A;ENSP00000370482:T335A;ENSP00000439203:T335A	.	T	-	1	0	NLGN4X	5831716	1.000000	0.71417	0.724000	0.30704	0.267000	0.26476	2.485000	0.45250	1.278000	0.44430	0.486000	0.48141	ACC		0.577	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		C	5821716	T	C	5821716	3	2	115	1	0	0	0	0	1	0	0	0	10464	1696	59	4	1455	4	NLGN4X	23	5821716	Missense_Mutation	SNP	T	TCGA-13-0919-01A-01W-0419-10		5821716	149448844	55	6221											
SPIN3	169981	hgsc.bcm.edu	37	X	57020662	57020662	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chrX:57020662delA	ENST00000374919.3	-	2	1041	c.719delT	c.(718-720)ttcfs	p.F240fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	240					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						AAATTTGATGAAGTACACAGA	0.398																																																0			X											82	77	79					X																	57020662		2196	4300	6496	57037387	SO:0001589	frameshift_variant	169981			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.719delT	X.37:g.57020662delA	ENSP00000364054:p.Phe240fs		57037387	B2RUW3|B7Z8W2|Q8N5D9	Frame_Shift_Del	DEL	ENST00000374919.3	37	CCDS43963.1																																																																																				0.398	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		-	57020662	A	-	57020662	7	5	115	1	0	1	0	1	0	0	0	0	15057	246	9	0	61	0	SPIN3	23	57020662	Frame_Shift_Del	DEL	A	TCGA-13-0919-01A-01W-0419-10	51198946	57020662	98249898	56	6222											
ARMCX2	9823	hgsc.bcm.edu	37	X	100911501	100911501	+	Silent	SNP	G	G	C			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chrX:100911501G>C	ENST00000328766.5	-	5	1527	c.1074C>G	c.(1072-1074)acC>acG	p.T358T	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.T358T|ARMCX2_ENST00000356824.4_Silent_p.T358T	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	358						integral component of membrane (GO:0016021)		p.T358T(2)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTCTGCGCTGGGTCTCGGGCT	0.572																																																2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	X											72	63	66					X																	100911501		2203	4300	6503	100798157	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1074C>G	X.37:g.100911501G>C			100798157	O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	CCDS14490.1																																																																																				0.572	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		C	100911501	G	C	100911501	2	2	115	1	0	0	0	0	0	0	0	1	960	1219	43	3		3	ARMCX2	23	100911501	Silent	SNP	G	TCGA-13-0919-01A-01W-0419-10	43890839	100911501	54359059	57	6223											
PNMA3	29944	hgsc.bcm.edu	37	X	152226780	152226780	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chrX:152226780C>A	ENST00000370264.4	+	1	1394	c.1368C>A	c.(1366-1368)agC>agA	p.S456R	PNMA3_ENST00000447306.1_Missense_Mutation_p.S456R|PNMA3_ENST00000370265.4_Intron			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	456					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGGACAAGAGCCATCCCAAGT	0.527																																																0			X											139	123	129					X																	152226780		2203	4300	6503	151977436	SO:0001583	missense	29944			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1368C>A	X.37:g.152226780C>A	ENSP00000359286:p.Ser456Arg		151977436	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	c	14.66	2.600862	0.46423	.	.	ENSG00000183837	ENST00000447306;ENST00000370264	T;T	0.21932	1.98;1.98	2.16	2.16	0.27623	.	.	.	.	.	T	0.14960	0.0361	L	0.50333	1.59	0.09310	N	0.999999	P	0.47484	0.896	B	0.32583	0.148	T	0.21280	-1.0250	9	0.87932	D	0	.	7.165	0.25685	0.0:1.0:0.0:0.0	.	456	Q9UL41	PNMA3_HUMAN	R	456	ENSP00000407642:S456R;ENSP00000359286:S456R	ENSP00000359286:S456R	S	+	3	2	PNMA3	151977436	0.191000	0.23288	0.235000	0.24058	0.372000	0.29890	1.995000	0.40767	1.378000	0.46305	0.464000	0.42555	AGC		0.527	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		A	152226780	C	A	152226780	3	1	115	1	0	0	0	0	1	0	0	0	12155	738	26	3	1370	3	PNMA3	23	152226780	Missense_Mutation	SNP	C	TCGA-13-0919-01A-01W-0419-10	51315279	152226780	3043780	58	6224											
PNCK	139728	hgsc.bcm.edu	37	X	152936015	152936015	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0919-01A-01W-0419-10	TCGA-13-0919-10A-01W-0419-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	63590dc9-4ca3-4f21-89a1-e7284b6ea041	93e418f4-4c4f-4c11-832a-afb83f3a91d2	g.chrX:152936015A>T	ENST00000370150.1	-	11	1107	c.929T>A	c.(928-930)aTc>aAc	p.I310N	PNCK_ENST00000393831.2_Missense_Mutation_p.I333N|PNCK_ENST00000447676.2_Missense_Mutation_p.I393N|PNCK_ENST00000370142.1_Missense_Mutation_p.I333N|PNCK_ENST00000340888.3_Missense_Mutation_p.I310N|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370145.4_Missense_Mutation_p.I327N			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	310	Calmodulin-binding. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.I310N(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTTCCGGATGTGGCGCAG	0.687																																																1	Substitution - Missense(1)	ovary(1)	X											22	21	21					X																	152936015		2201	4297	6498	152589209	SO:0001583	missense	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.929T>A	X.37:g.152936015A>T	ENSP00000359169:p.Ile310Asn		152589209	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	17.99|17.99	3.523686|3.523686	0.64747|0.64747	.|.	.|.	ENSG00000130822|ENSG00000130822	ENST00000438984|ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676	.|T;T;T;T;T;T	.|0.68331	.|-0.32;-0.32;0.08;0.08;-0.31;-0.28	3.07|3.07	3.07|3.07	0.35406|0.35406	.|Protein kinase-like domain (1);	.|0.000000	.|0.56097	.|D	.|0.000028	T|T	0.74824|0.74824	0.3767|0.3767	M|M	0.63428|0.63428	1.95|1.95	0.45747|0.45747	D|D	0.998647|0.998647	.|D;D;D	.|0.64830	.|0.994;0.978;0.978	.|P;P;P	.|0.62740	.|0.906;0.694;0.694	T|T	0.77135|0.77135	-0.2699|-0.2699	6|10	0.25106|0.87932	T|D	0.35|0	-22.22|-22.22	10.3349|10.3349	0.43844|0.43844	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|393;327;310	.|Q6P2M8-5;B4E1A6;Q6P2M8	.|.;.;KCC1B_HUMAN	Q|N	41|310;310;333;333;327;393	.|ENSP00000340586:I310N;ENSP00000359169:I310N;ENSP00000377417:I333N;ENSP00000359161:I333N;ENSP00000359164:I327N;ENSP00000405950:I393N	ENSP00000390812:H41Q|ENSP00000340586:I310N	H|I	-|-	3|2	2|0	PNCK|PNCK	152589209|152589209	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.481000|0.481000	0.33189|0.33189	5.443000|5.443000	0.66581|0.66581	1.456000|1.456000	0.47831|0.47831	0.430000|0.430000	0.28490|0.28490	CAT|ATC		0.687	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		T	152936015	A	T	152936015	3	4	115	1	0	0	0	0	1	0	0	0	12145	333	12	5	106	5	PNCK	23	152936015	Missense_Mutation	SNP	A	TCGA-13-0919-01A-01W-0419-10	709235	152936015	2334545	59	6225											
UBE4B	10277	genome.wustl.edu	37	1	10238758	10238758	+	Silent	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:10238758G>C	ENST00000253251.8	+	25	4034	c.3195G>C	c.(3193-3195)ggG>ggC	p.G1065G	UBE4B_ENST00000343090.6_Silent_p.G1194G|UBE4B_ENST00000377157.3_Silent_p.G949G					ubiquitination factor E4B									p.G1065G(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GGAAGGCAGGGATCAAATCCA	0.453																																																1	Substitution - coding silent(1)	ovary(1)	1											73	70	71					1																	10238758		2203	4300	6503	10161345	SO:0001819	synonymous_variant	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3195G>C	1.37:g.10238758G>C			10161345		Silent	SNP	ENST00000253251.8	37	CCDS110.1																																																																																				0.453	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		C	10238758	G	C	10238758	2	2	116	1	0	0	0	0	0	0	0	1	16883	1161	41	3		3	UBE4B	1	10238758	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09		10238758	239011863	1	6226											
ARHGEF19	128272	genome.wustl.edu	37	1	16525128	16525128	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:16525128T>G	ENST00000270747.3	-	16	2499	c.2363A>C	c.(2362-2364)aAg>aCg	p.K788T	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19-AS1_ENST00000457809.1_RNA	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	788					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K788T(1)		cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGACTCGCTTATTCTCCCG	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											80	79	79					1																	16525128		2203	4300	6503	16397715	SO:0001583	missense	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.2363A>C	1.37:g.16525128T>G	ENSP00000270747:p.Lys788Thr		16397715	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	CCDS170.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.494980	0.26774	.	.	ENSG00000142632	ENST00000270747;ENST00000421561	T;T	0.70282	-0.47;1.47	5.37	4.24	0.50183	.	0.451574	0.20874	N	0.084120	T	0.48892	0.1525	N	0.19112	0.55	0.21967	N	0.999442	P	0.37330	0.59	B	0.34301	0.179	T	0.33317	-0.9873	10	0.22706	T	0.39	.	6.7554	0.23510	0.0:0.1407:0.0:0.8593	.	788	Q8IW93	ARHGJ_HUMAN	T	788;488	ENSP00000270747:K788T;ENSP00000396001:K488T	ENSP00000270747:K788T	K	-	2	0	ARHGEF19	16397715	1.000000	0.71417	0.995000	0.50966	0.538000	0.34931	2.816000	0.48026	2.053000	0.61076	0.533000	0.62120	AAG		0.642	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		G	16525128	T	G	16525128	3	3	116	1	0	0	0	0	1	0	0	0	902	1609	56	5	49	5	ARHGEF19	1	16525128	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09	6286370	16525128	232725493	2	6227											
UBR4	23352	genome.wustl.edu	37	1	19443876	19443876	+	Silent	SNP	C	C	T	rs61996287	byFrequency	TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:19443876C>T	ENST00000375254.3	-	73	10689	c.10662G>A	c.(10660-10662)acG>acA	p.T3554T	UBR4_ENST00000375226.2_Silent_p.T3530T|UBR4_ENST00000375267.2_Silent_p.T3554T|UBR4_ENST00000375217.2_Silent_p.T3547T|UBR4_ENST00000375218.3_5'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3554					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T3554T(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTGTACCGCGTGTCCACTT	0.433													C|||	42	0.00838658	0.0272	0.0072	5008	,	,		17878	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1						C		88,4318	73.6+/-111.7	0,88,2115	150	126	134		10662	-11	0.6	1	dbSNP_129	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UBR4	NM_020765.2		0,89,6414	TT,TC,CC		0.0116,1.9973,0.6843		3554/5184	19443876	89,12917	2203	4300	6503	19316463	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10662G>A	1.37:g.19443876C>T			19316463	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		T	19443876	C	T	19443876	2	4	116	1	0	0	0	0	0	0	0	1	16904	755	27	1		1	UBR4	1	19443876	Silent	SNP	C	TCGA-13-0920-01A-01W-0421-09	2918748	19443876	229806745	3	6228											
HMGCS2	3158	genome.wustl.edu	37	1	120295937	120295937	+	Silent	SNP	G	G	A	rs15609		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:120295937G>A	ENST00000369406.3	-	7	1309	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	HMGCS2_ENST00000476640.1_5'Flank|HMGCS2_ENST00000544913.2_Silent_p.F378F	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	420					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.F420F(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GAAATGAAAAGAAACTTGCTG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	1											69	67	68					1																	120295937		2203	4300	6503	120097460	SO:0001819	synonymous_variant	3158			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1260C>T	1.37:g.120295937G>A			120097460	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Silent	SNP	ENST00000369406.3	37	CCDS905.1																																																																																				0.463	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		A	120295937	G	A	120295937	2	1	116	1	0	0	0	0	0	0	0	1	7233	933	33	2		2	HMGCS2	1	120295937	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09	100852061	120295937	128954684	4	6229											
PIP5K1A	8394	genome.wustl.edu	37	1	151205165	151205165	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:151205165C>G	ENST00000368888.4	+	7	1047	c.625C>G	c.(625-627)Cca>Gca	p.P209A	PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.P197A|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.P196A|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.P197A	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	209	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.P196A(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCTGCTTCCAGGATACTA	0.498																																					Pancreas(80;36 1443 2325 16095 21302)											1	Substitution - Missense(1)	ovary(1)	1											80	76	78					1																	151205165		2203	4300	6503	149471789	SO:0001583	missense	8394			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.625C>G	1.37:g.151205165C>G	ENSP00000357883:p.Pro209Ala		149471789	A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876140	0.91664	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.22	5.22	0.72569	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.91406	3.205	0.80722	D	1	P;D;P;D	0.57899	0.94;0.981;0.736;0.981	D;P;P;P	0.64237	0.923;0.742;0.588;0.846	T	0.73448	-0.3979	10	0.62326	D	0.03	.	18.6216	0.91323	0.0:1.0:0.0:0.0	.	197;196;209;196	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	A	196;197;197;196;209	ENSP00000271663:P196A;ENSP00000386432:P197A;ENSP00000415648:P197A;ENSP00000357885:P196A;ENSP00000357883:P209A	ENSP00000271663:P196A	P	+	1	0	PIP5K1A	149471789	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.606000	0.82863	2.741000	0.93983	0.479000	0.44913	CCA		0.498	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		G	151205165	C	G	151205165	3	3	116	1	0	0	0	0	1	0	0	0	11939	855	30	3	651	3	PIP5K1A	1	151205165	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	30909228	151205165	98045456	5	6230											
CGN	57530	genome.wustl.edu	37	1	151509308	151509308	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:151509308G>A	ENST00000271636.7	+	20	3542	c.3409G>A	c.(3409-3411)Gag>Aag	p.E1137K		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1131					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.E1137K(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGGTGGAGGAGCAGCATGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											143	147	146					1																	151509308		2203	4300	6503	149775932	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3409G>A	1.37:g.151509308G>A	ENSP00000271636:p.Glu1137Lys		149775932	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583267	0.96578	.	.	ENSG00000143375	ENST00000271636	T	0.80566	-1.39	5.41	5.41	0.78517	Myosin tail (1);	0.099528	0.64402	D	0.000002	D	0.89739	0.6802	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91056	0.4882	10	0.87932	D	0	-26.8742	17.7652	0.88475	0.0:0.0:1.0:0.0	.	1131	Q9P2M7	CING_HUMAN	K	1137	ENSP00000271636:E1137K	ENSP00000271636:E1137K	E	+	1	0	CGN	149775932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.654000	0.98509	2.541000	0.85698	0.655000	0.94253	GAG		0.562	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		A	151509308	G	A	151509308	3	1	116	1	0	0	0	0	1	0	0	0	3303	1175	41	2	3483	2	CGN	1	151509308	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	304143	151509308	97741313	6	6231											
FLG2	388698	genome.wustl.edu	37	1	152327876	152327876	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:152327876G>T	ENST00000388718.5	-	3	2458	c.2386C>A	c.(2386-2388)Caa>Aaa	p.Q796K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	796	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q796K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCATGTTGTCCAAAGCCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											220	205	210					1																	152327876		2203	4297	6500	150594500	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2386C>A	1.37:g.152327876G>T	ENSP00000373370:p.Gln796Lys		150594500	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	2.814	-0.246340	0.05867	.	.	ENSG00000143520	ENST00000388718	T	0.04758	3.56	3.53	2.59	0.31030	.	.	.	.	.	T	0.01489	0.0048	M	0.61703	1.905	0.09310	N	1	P	0.34724	0.465	B	0.30646	0.118	T	0.41805	-0.9488	9	0.06757	T	0.87	-6.4447	9.7553	0.40500	0.0:0.41:0.59:0.0	.	796	Q5D862	FILA2_HUMAN	K	796	ENSP00000373370:Q796K	ENSP00000373370:Q796K	Q	-	1	0	FLG2	150594500	0.001000	0.12720	0.002000	0.10522	0.250000	0.25880	0.560000	0.23500	0.670000	0.31165	0.400000	0.26472	CAA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152327876	G	T	152327876	3	4	116	1	0	0	0	0	1	0	0	0	5923	1386	48	3	4793	3	FLG2	1	152327876	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	818568	152327876	96922745	7	6232											
ITLN1	55600	genome.wustl.edu	37	1	160850971	160850971	+	Silent	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:160850971C>A	ENST00000326245.3	-	5	652	c.537G>T	c.(535-537)ctG>ctT	p.L179L	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	179	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)	p.L179L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GATTATGTCCCAGTGTCTGGA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	1											155	135	142					1																	160850971		2203	4300	6503	159117595	SO:0001819	synonymous_variant	55600			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.537G>T	1.37:g.160850971C>A			159117595	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	CCDS1211.1																																																																																				0.557	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		A	160850971	C	A	160850971	2	1	116	1	0	0	0	0	0	0	0	1	7910	581	21	3		3	ITLN1	1	160850971	Silent	SNP	C	TCGA-13-0920-01A-01W-0421-09	8523095	160850971	88399650	8	6233											
DDR2	4921	genome.wustl.edu	37	1	162722919	162722919	+	Silent	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:162722919C>T	ENST00000367922.3	+	5	555	c.117C>T	c.(115-117)ggC>ggT	p.G39G	DDR2_ENST00000367921.3_Silent_p.G39G	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	39	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G39G(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TGTCAGGAGGCCAGATTCCAG	0.468																																					NSCLC(161;314 2006 8283 19651 23192)											1	Substitution - coding silent(1)	ovary(1)	1											113	104	107					1																	162722919		2203	4300	6503	160989543	SO:0001819	synonymous_variant	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.117C>T	1.37:g.162722919C>T			160989543	Q7Z730	Silent	SNP	ENST00000367922.3	37	CCDS1241.1																																																																																				0.468	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		T	162722919	C	T	162722919	2	4	116	1	0	0	0	0	0	0	0	1	4337	726	26	2		2	DDR2	1	162722919	Silent	SNP	C	TCGA-13-0920-01A-01W-0421-09	1871948	162722919	86527702	9	6234											
TADA1	117143	genome.wustl.edu	37	1	166831529	166831529	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:166831529G>C	ENST00000367874.4	-	5	544	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	151					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.L151V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CTCCCTTCAAGCTGGCCTCGA	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											172	143	153					1																	166831529		2203	4300	6503	165098153	SO:0001583	missense	117143			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.451C>G	1.37:g.166831529G>C	ENSP00000356848:p.Leu151Val		165098153	A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816843	0.50633	.	.	ENSG00000152382	ENST00000367874	T	0.51574	0.7	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	N	0.14661	0.345	0.44030	D	0.996755	P	0.52316	0.952	P	0.56788	0.806	T	0.25847	-1.0120	9	0.41790	T	0.15	-7.5248	11.344	0.49550	0.0821:0.0:0.9179:0.0	.	151	Q96BN2	TADA1_HUMAN	V	151	ENSP00000356848:L151V	ENSP00000356848:L151V	L	-	1	0	TADA1	165098153	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.110000	0.64622	2.937000	0.99478	0.650000	0.86243	CTT		0.502	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		C	166831529	G	C	166831529	3	2	116	1	0	0	0	0	1	0	0	0	15509	971	34	3	572	3	TADA1	1	166831529	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	4108610	166831529	82419092	10	6235											
F5	2153	genome.wustl.edu	37	1	169483640	169483640	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:169483640T>A	ENST00000367797.3	-	25	6787	c.6586A>T	c.(6586-6588)Atc>Ttc	p.I2196F	F5_ENST00000367796.3_Missense_Mutation_p.I2201F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2196	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.I2196F(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGGAAATGATTGGGGGGTTG	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											75	79	78					1																	169483640		2203	4300	6503	167750264	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6586A>T	1.37:g.169483640T>A	ENSP00000356771:p.Ile2196Phe		167750264	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572850	0.86542	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98666	-5.06;-5.06	5.09	5.09	0.68999	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	L	0.60845	1.875	0.49582	D	0.999805	D	0.89917	1.0	D	0.97110	1.0	D	0.99898	1.1153	9	0.66056	D	0.02	-17.118	14.5117	0.67791	0.0:0.0:0.0:1.0	.	2196	P12259	FA5_HUMAN	F	2196;2201	ENSP00000356771:I2196F;ENSP00000356770:I2201F	ENSP00000356770:I2201F	I	-	1	0	F5	167750264	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.640000	0.74319	1.909000	0.55274	0.482000	0.46254	ATC		0.343	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169483640	T	A	169483640	3	1	116	1	0	0	0	0	1	0	0	0	5348	1493	52	5	92	5	F5	1	169483640	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09	2652111	169483640	79766981	11	6236											
CR1	1378	genome.wustl.edu	37	1	207741239	207741239	+	Silent	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:207741239C>A	ENST00000367049.4	+	25	4023	c.4023C>A	c.(4021-4023)ccC>ccA	p.P1341P	CR1_ENST00000400960.2_Silent_p.P891P|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.P891P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.P891P|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	891	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.P896P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAGTCTTTCCCTTTGGAAAAG	0.468																																																1	Substitution - coding silent(1)	ovary(1)	1											145	162	157					1																	207741239		1809	4100	5909	205807862	SO:0001819	synonymous_variant	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4023C>A	1.37:g.207741239C>A			205807862	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																				0.468	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		A	207741239	C	A	207741239	2	1	116	1	0	0	0	0	0	0	0	1	3840	668	24	3		3	CR1	1	207741239	Silent	SNP	C	TCGA-13-0920-01A-01W-0421-09	38257599	207741239	41509382	12	6237											
USH2A	7399	genome.wustl.edu	37	1	215963506	215963506	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr1:215963506A>T	ENST00000307340.3	-	51	10463	c.10077T>A	c.(10075-10077)tgT>tgA	p.C3359*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.C3359*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3359					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.C3359*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTCAGTCTCACAGCATTTTA	0.383										HNSCC(13;0.011)																																						1	Substitution - Nonsense(1)	ovary(1)	1											133	127	129					1																	215963506		2203	4300	6503	214030129	SO:0001587	stop_gained	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10077T>A	1.37:g.215963506A>T	ENSP00000305941:p.Cys3359*		214030129	Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	53	20.892516	0.99935	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.76	-0.664	0.11406	.	0.000000	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4051	0.16316	0.5412:0.2531:0.2057:0.0	.	.	.	.	X	3359	.	ENSP00000305941:C3359X	C	-	3	2	USH2A	214030129	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.344000	0.33941	-0.126000	0.11682	0.533000	0.62120	TGT		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215963506	A	T	215963506	4	4	116	1	0	0	0	0	0	1	0	0	17036	157	6	5	5619	5	USH2A	1	215963506	Nonsense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09	8222267	215963506	33287115	13	6238											
MAPRE3	22924	genome.wustl.edu	37	2	27245110	27245110	+	Silent	SNP	A	A	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr2:27245110A>G	ENST00000233121.2	+	2	222	c.24A>G	c.(22-24)acA>acG	p.T8T	MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000405074.3_Silent_p.T8T|MAPRE3_ENST00000402218.1_Silent_p.T8T			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	8					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.T8T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTACTCCACATCTGTGACCA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	2											185	174	178					2																	27245110		2203	4300	6503	27098614	SO:0001819	synonymous_variant	22924			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.24A>G	2.37:g.27245110A>G			27098614	B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Silent	SNP	ENST00000233121.2	37	CCDS1731.1																																																																																				0.498	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		G	27245110	A	G	27245110	2	3	116	1	0	0	0	0	0	0	0	1	9296	204	8	4		4	MAPRE3	2	27245110	Silent	SNP	A	TCGA-13-0920-01A-01W-0421-09		27245110	215954263	14	6239											
EML4	27436	genome.wustl.edu	37	2	42556028	42556028	+	Missense_Mutation	SNP	G	G	C	rs541549971		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr2:42556028G>C	ENST00000318522.5	+	22	2606	c.2344G>C	c.(2344-2346)Gtc>Ctc	p.V782L	EML4_ENST00000401738.3_Missense_Mutation_p.V793L|EML4_ENST00000402711.2_Missense_Mutation_p.V724L|EML4_ENST00000453191.2_Missense_Mutation_p.V46L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	782					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.V782L(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TATCAAAGGTGTCTGGCCAGA	0.373			T	ALK	NSCLC																																		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	1	Substitution - Missense(1)	ovary(1)	2											113	107	109					2																	42556028		2203	4300	6503	42409532	SO:0001583	missense	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2344G>C	2.37:g.42556028G>C	ENSP00000320663:p.Val782Leu		42409532	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694927	0.88830	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.69040	2.45;1.06;2.45;-0.37	5.65	4.75	0.60458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	L	0.59967	1.855	0.80722	D	1	D;B;D;D	0.67145	0.996;0.185;0.964;0.996	D;B;P;D	0.77557	0.99;0.042;0.778;0.99	T	0.71988	-0.4426	10	0.27785	T	0.31	-12.9768	15.1889	0.73028	0.0684:0.0:0.9316:0.0	.	724;724;793;782	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	L	782;724;793;46	ENSP00000320663:V782L;ENSP00000385059:V724L;ENSP00000384939:V793L;ENSP00000400590:V46L	ENSP00000320663:V782L	V	+	1	0	EML4	42409532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.529000	0.98049	2.941000	0.99782	0.655000	0.94253	GTC		0.373	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		C	42556028	G	C	42556028	3	2	116	1	0	0	0	0	1	0	0	0	5099	1377	48	3	2430	3	EML4	2	42556028	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	15310918	42556028	200643345	15	6240											
CNNM4	26504	genome.wustl.edu	37	2	97427452	97427452	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr2:97427452G>T	ENST00000377075.2	+	1	814	c.716G>T	c.(715-717)gGc>gTc	p.G239V		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	239	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.G239V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CGGCGCAAGGGCAACTACCTT	0.602																																																1	Substitution - Missense(1)	ovary(1)	2											128	119	122					2																	97427452		2203	4300	6503	96791179	SO:0001583	missense	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.716G>T	2.37:g.97427452G>T	ENSP00000366275:p.Gly239Val		96791179	B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	g	23.8	4.455711	0.84209	.	.	ENSG00000158158	ENST00000377075	D	0.88124	-2.34	5.13	5.13	0.70059	Domain of unknown function DUF21 (1);	0.058067	0.64402	D	0.000002	D	0.95274	0.8467	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96469	0.9347	10	0.87932	D	0	-13.7803	17.363	0.87356	0.0:0.0:1.0:0.0	.	239	Q6P4Q7	CNNM4_HUMAN	V	239	ENSP00000366275:G239V	ENSP00000366275:G239V	G	+	2	0	CNNM4	96791179	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.820000	0.99359	2.385000	0.81259	0.651000	0.88453	GGC		0.602	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		T	97427452	G	T	97427452	3	4	116	1	0	0	0	0	1	0	0	0	3615	1203	42	3	718	3	CNNM4	2	97427452	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	54871424	97427452	145771921	16	6241											
NMS	129521	genome.wustl.edu	37	2	101096958	101096958	+	Splice_Site	SNP	G	G	T	rs202227228		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr2:101096958G>T	ENST00000376865.1	+	7	344	c.337G>T	c.(337-339)Ggc>Tgc	p.G113C		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	113					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.G113C(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TTCCTTGCAGGGCTCGGGGAC	0.537																																																1	Substitution - Missense(1)	ovary(1)	2											123	116	118					2																	101096958		2203	4300	6503	100463390	SO:0001630	splice_region_variant	129521			AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"Endogenous ligands"	32203	protein-coding gene	gene with protein product	"prepro-NMS"					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.337-1G>T	2.37:g.101096958G>T			100463390		Missense_Mutation	SNP	ENST00000376865.1	37	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491886	0.26774	.	.	ENSG00000204640	ENST00000376865	T	0.23147	1.92	3.65	2.77	0.32553	.	0.315558	0.25511	N	0.030167	T	0.14056	0.0340	N	0.22421	0.69	0.09310	N	1	D	0.54047	0.964	B	0.40602	0.334	T	0.10706	-1.0618	9	.	.	.	0.277	7.0031	0.24821	0.1229:0.0:0.8771:0.0	.	113	Q5H8A3	NMS_HUMAN	C	113	ENSP00000366061:G113C	.	G	+	1	0	NMS	100463390	0.997000	0.39634	0.028000	0.17463	0.025000	0.11179	3.964000	0.56780	1.110000	0.41699	0.650000	0.86243	GGC		0.537	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717	Missense_Mutation	T	101096958	G	T	101096958	5	4	116	1	0	0	0	0	0	0	1	0	10502	1246	43	3	363	3	NMS	2	101096958	Splice_Site	SNP	G	TCGA-13-0920-01A-01W-0421-09	3669506	101096958	142102415	17	6242											
PTPN4	5775	genome.wustl.edu	37	2	120567546	120567546	+	Silent	SNP	T	T	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr2:120567546T>A	ENST00000263708.2	+	2	888	c.117T>A	c.(115-117)acT>acA	p.T39T		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	39	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T39T(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TGGATAACACTGTACAAGCTT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	2											134	122	126					2																	120567546		2203	4300	6503	120284016	SO:0001819	synonymous_variant	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.117T>A	2.37:g.120567546T>A			120284016	B2RBV8|Q9UDA7	Silent	SNP	ENST00000263708.2	37	CCDS2129.1																																																																																				0.373	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			A	120567546	T	A	120567546	2	1	116	1	0	0	0	0	0	0	0	1	12793	1567	55	5		5	PTPN4	2	120567546	Silent	SNP	T	TCGA-13-0920-01A-01W-0421-09	19470588	120567546	122631827	18	6243											
LRP2	4036	genome.wustl.edu	37	2	170032937	170032937	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr2:170032937A>C	ENST00000263816.3	-	54	10840	c.10555T>G	c.(10555-10557)Tgc>Ggc	p.C3519G	LRP2_ENST00000461418.1_5'Flank	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3519	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.C3519G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTGTTAGCGCACAGGAACTGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	2											128	102	111					2																	170032937		2203	4300	6503	169741183	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10555T>G	2.37:g.170032937A>C	ENSP00000263816:p.Cys3519Gly		169741183	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293481	0.60086	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.99919	-8.0	5.96	5.96	0.96718	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99953	0.9980	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96109	0.9075	10	0.72032	D	0.01	.	16.422	0.83766	1.0:0.0:0.0:0.0	.	3519	P98164	LRP2_HUMAN	G	3519;214	ENSP00000263816:C3519G	ENSP00000263816:C3519G	C	-	1	0	LRP2	169741183	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	9.335000	0.96500	2.270000	0.75569	0.533000	0.62120	TGC		0.542	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170032937	A	C	170032937	3	2	116	1	0	0	0	0	1	0	0	0	8956	159	6	5	3516	5	LRP2	2	170032937	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09	49465391	170032937	73166436	19	6244											
TTN	7273	genome.wustl.edu	37	2	179464487	179464487	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr2:179464487G>A	ENST00000591111.1	-	239	51442	c.51218C>T	c.(51217-51219)cCg>cTg	p.P17073L	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16146L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9774L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9841L|TTN_ENST00000460472.2_Missense_Mutation_p.P9649L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P18714L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17073	Ig-like 102.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P16144L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTAGTGTCGGGAATGGCAC	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											121	111	114					2																	179464487		1867	4104	5971	179172732	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51218C>T	2.37:g.179464487G>A	ENSP00000465570:p.Pro17073Leu		179172732	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.34	2.805555	0.50315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90817	0.7116	H	0.98048	4.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.93846	0.7141	9	0.87932	D	0	.	19.6238	0.95670	0.0:0.0:1.0:0.0	.	9649;9774;9841;17073	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16146;9649;9841;9774;9647	ENSP00000343764:P16146L;ENSP00000434586:P9649L;ENSP00000340554:P9841L;ENSP00000352154:P9774L	ENSP00000340554:P9841L	P	-	2	0	TTN	179172732	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.793000	0.99091	2.642000	0.89623	0.557000	0.71058	CCG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179464487	G	A	179464487	3	1	116	1	0	0	0	0	1	0	0	0	16735	1116	39	1	51848	1	TTN	2	179464487	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	9431550	179464487	63734886	20	6245											
FAM171B	165215	genome.wustl.edu	37	2	187627365	187627365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr2:187627365G>T	ENST00000304698.5	+	8	2499	c.2296G>T	c.(2296-2298)Gga>Tga	p.G766*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	766						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.G766*(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATCCTAGATGGAGGGAGTGG	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	2											69	71	71					2																	187627365		2203	4300	6503	187335610	SO:0001587	stop_gained	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2296G>T	2.37:g.187627365G>T	ENSP00000304108:p.Gly766*		187335610	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Nonsense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	39	7.501716	0.98322	.	.	ENSG00000144369	ENST00000304698	.	.	.	6.02	6.02	0.97574	.	0.106575	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.5947	13.7061	0.62639	0.07:0.0:0.93:0.0	.	.	.	.	X	766	.	ENSP00000304108:G766X	G	+	1	0	FAM171B	187335610	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.137000	0.64789	2.850000	0.98022	0.650000	0.86243	GGA		0.488	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		T	187627365	G	T	187627365	4	4	116	1	0	0	0	0	0	1	0	0	5491	1349	47	3	2326	3	FAM171B	2	187627365	Nonsense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	8162878	187627365	55572008	21	6246											
SP100	6672	genome.wustl.edu	37	2	231406646	231406646	+	Silent	SNP	T	T	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr2:231406646T>C	ENST00000340126.4	+	28	2474	c.2443T>C	c.(2443-2445)Tta>Cta	p.L815L	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L815L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCCCATGTGGTTAAACAAAGT	0.453																																																1	Substitution - coding silent(1)	ovary(1)	2											102	99	100					2																	231406646		1906	4122	6028	231114890	SO:0001819	synonymous_variant	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2443T>C	2.37:g.231406646T>C			231114890	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	ENST00000340126.4	37	CCDS42832.1	.	.	.	.	.	.	.	.	.	.	t	3.814	-0.039103	0.07497	.	.	ENSG00000067066	ENST00000431952	.	.	.	4.13	1.7	0.24286	.	.	.	.	.	T	0.51991	0.1707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39563	-0.9608	4	.	.	.	.	5.4148	0.16368	0.0:0.2479:0.0:0.7521	.	.	.	.	A	188	.	.	V	+	2	0	SP100	231114890	0.261000	0.24063	0.978000	0.43139	0.340000	0.28889	-0.095000	0.11077	0.375000	0.24679	0.533000	0.62120	GTT		0.453	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113		C	231406646	T	C	231406646	2	2	116	1	0	0	0	0	0	0	0	1	14963	1722	60	4		4	SP100	2	231406646	Silent	SNP	T	TCGA-13-0920-01A-01W-0421-09	43779281	231406646	11792727	22	6247											
RTP3	83597	genome.wustl.edu	37	3	46542220	46542220	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr3:46542220C>A	ENST00000296142.3	+	2	1102	c.530C>A	c.(529-531)cCa>cAa	p.P177Q		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	177					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.P177Q(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTCAGACCCCAAGAGTACAC	0.522																																																1	Substitution - Missense(1)	ovary(1)	3											77	76	77					3																	46542220		2203	4300	6503	46517224	SO:0001583	missense	83597			AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"Receptor transporter proteins"	15572	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 3"	607181	"transmembrane protein 7", "receptor transporter protein 3"	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.530C>A	3.37:g.46542220C>A	ENSP00000296142:p.Pro177Gln		46517224	A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102260	0.37145	.	.	ENSG00000163825	ENST00000296142	T	0.20069	2.1	2.32	1.43	0.22495	.	1.354520	0.05314	N	0.525302	T	0.30070	0.0753	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.66716	0.946	T	0.30504	-0.9976	10	0.66056	D	0.02	-9.8694	7.0102	0.24857	0.0:0.8502:0.0:0.1498	.	177	Q9BQQ7	RTP3_HUMAN	Q	177	ENSP00000296142:P177Q	ENSP00000296142:P177Q	P	+	2	0	RTP3	46517224	0.005000	0.15991	0.008000	0.14137	0.047000	0.14425	1.171000	0.31896	0.537000	0.28751	0.462000	0.41574	CCA		0.522	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		A	46542220	C	A	46542220	3	1	116	1	0	0	0	0	1	0	0	0	13738	594	21	3	536	3	RTP3	3	46542220	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09		46542220	151480210	23	6248											
PTPRG	5793	genome.wustl.edu	37	3	62248479	62248479	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr3:62248479C>A	ENST00000474889.1	+	17	2943	c.2566C>A	c.(2566-2568)Cag>Aag	p.Q856K	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000469148.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.Q827K|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	856	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q856K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTAGGAAGTCCAGCGCTGTAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											106	97	100					3																	62248479		2203	4300	6503	62223519	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2566C>A	3.37:g.62248479C>A	ENSP00000418112:p.Gln856Lys		62223519	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964629	0.74131	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.11385	2.78;2.78	5.87	5.87	0.94306	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	L	0.56340	1.77	0.80722	D	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.0;0.001;0.003	T	0.02132	-1.1208	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	102;827;856	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	K	856;827	ENSP00000418112:Q856K;ENSP00000295874:Q827K	ENSP00000295874:Q827K	Q	+	1	0	PTPRG	62223519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CAG		0.373	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		A	62248479	C	A	62248479	3	1	116	1	0	0	0	0	1	0	0	0	12805	595	21	3	2632	3	PTPRG	3	62248479	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	15706259	62248479	135773951	24	6249											
P2RY13	53829	genome.wustl.edu	37	3	151046191	151046191	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr3:151046191C>A	ENST00000325602.5	-	2	672	c.653G>T	c.(652-654)tGg>tTg	p.W218L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	218					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.W197L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAAAACAGTCCAGAAAATAAA	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											63	68	66					3																	151046191		2203	4300	6503	152528881	SO:0001583	missense	53829			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.653G>T	3.37:g.151046191C>A	ENSP00000320376:p.Trp218Leu		152528881	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805143	0.70682	.	.	ENSG00000181631	ENST00000325602	T	0.30448	1.53	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.115379	0.64402	D	0.000005	T	0.50667	0.1629	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.38972	-0.9636	10	0.06494	T	0.89	-9.4136	19.7783	0.96405	0.0:1.0:0.0:0.0	.	218	Q9BPV8	P2Y13_HUMAN	L	218	ENSP00000320376:W218L	ENSP00000320376:W218L	W	-	2	0	P2RY13	152528881	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.717000	0.68446	2.673000	0.90976	0.558000	0.71614	TGG		0.353	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		A	151046191	C	A	151046191	3	1	116	1	0	0	0	0	1	0	0	0	11350	595	21	3	415	3	P2RY13	3	151046191	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	88797712	151046191	46976239	25	6250	16	2									
P2RY13	53829	genome.wustl.edu	37	3	151046196	151046196	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr3:151046196A>C	ENST00000325602.5	-	2	667	c.648T>G	c.(646-648)atT>atG	p.I216M	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	216					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.I195M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAGTCCAGAAAATAAACTGGC	0.358																																																1	Substitution - Missense(1)	ovary(1)	3											62	67	65					3																	151046196		2203	4300	6503	152528886	SO:0001583	missense	53829			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.648T>G	3.37:g.151046196A>C	ENSP00000320376:p.Ile216Met		152528886	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141912	0.57044	.	.	ENSG00000181631	ENST00000325602	T	0.72835	-0.69	5.64	-0.413	0.12363	GPCR, rhodopsin-like superfamily (1);	0.168065	0.52532	D	0.000079	T	0.74703	0.3751	L	0.58969	1.84	0.37738	D	0.925501	D	0.61080	0.989	D	0.71414	0.973	T	0.72184	-0.4367	10	0.45353	T	0.12	-17.9008	6.2401	0.20785	0.3171:0.0:0.5344:0.1485	.	216	Q9BPV8	P2Y13_HUMAN	M	216	ENSP00000320376:I216M	ENSP00000320376:I216M	I	-	3	3	P2RY13	152528886	0.074000	0.21230	0.968000	0.41197	0.958000	0.62258	-0.034000	0.12225	0.112000	0.17975	0.456000	0.33151	ATT		0.358	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		C	151046196	A	C	151046196	3	2	116	1	0	0	0	0	1	0	0	0	11350	10	1	5	420	5	P2RY13	3	151046196	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09	5	151046196	46976234	26	6251	16	2									
SLITRK3	22865	genome.wustl.edu	37	3	164908337	164908337	+	Silent	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr3:164908337G>T	ENST00000475390.1	-	2	725	c.282C>A	c.(280-282)acC>acA	p.T94T	SLITRK3_ENST00000241274.3_Silent_p.T94T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	94					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.T94T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAAAACTGTTGGTATATAATT	0.343										HNSCC(40;0.11)																																						1	Substitution - coding silent(1)	ovary(1)	3											53	57	56					3																	164908337		2203	4299	6502	166391031	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.282C>A	3.37:g.164908337G>T			166391031	Q1RMY6	Silent	SNP	ENST00000475390.1	37	CCDS3197.1																																																																																				0.343	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		T	164908337	G	T	164908337	2	4	116	1	0	0	0	0	0	0	0	1	14747	1335	47	3		3	SLITRK3	3	164908337	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09	13862141	164908337	33114093	27	6252											
RGS12	6002	genome.wustl.edu	37	4	3319414	3319414	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:3319414C>G	ENST00000344733.5	+	2	2421	c.1517C>G	c.(1516-1518)tCt>tGt	p.S506C	RGS12_ENST00000543385.1_Missense_Mutation_p.S506C|RGS12_ENST00000336727.3_Missense_Mutation_p.S506C|RGS12_ENST00000382788.3_Missense_Mutation_p.S506C	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	506					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.S506C(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGCCAGCCTCTCCTGTGGAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	4											43	45	44					4																	3319414		2203	4300	6503	3289212	SO:0001583	missense	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1517C>G	4.37:g.3319414C>G	ENSP00000339381:p.Ser506Cys		3289212	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	6.111	0.388672	0.11581	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.34859	1.34;1.36;1.41;1.41	3.92	1.03	0.20045	.	0.760191	0.12354	N	0.476249	T	0.37652	0.1011	L	0.53249	1.67	0.20196	N	0.999924	P;D;P	0.57257	0.896;0.979;0.937	B;P;P	0.49708	0.415;0.613;0.62	T	0.18178	-1.0345	10	0.48119	T	0.1	-0.2985	6.2016	0.20579	0.0:0.6678:0.1529:0.1794	.	506;506;506	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	C	506	ENSP00000440566:S506C;ENSP00000339381:S506C;ENSP00000338509:S506C;ENSP00000372238:S506C	ENSP00000338509:S506C	S	+	2	0	RGS12	3289212	0.003000	0.15002	0.000000	0.03702	0.021000	0.10359	1.717000	0.37991	-0.022000	0.13986	0.491000	0.48974	TCT		0.642	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		G	3319414	C	G	3319414	3	3	116	1	0	0	0	0	1	0	0	0	13298	913	32	3	1519	3	RGS12	4	3319414	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09		3319414	187834862	28	6253											
ZBTB49	166793	genome.wustl.edu	37	4	4304434	4304434	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:4304434G>C	ENST00000337872.4	+	3	992	c.871G>C	c.(871-873)Gac>Cac	p.D291H	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.D291H	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D291H(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCCTGAGTCAGACGCCACATG	0.512																																																1	Substitution - Missense(1)	ovary(1)	4											76	77	77					4																	4304434		2203	4300	6503	4355335	SO:0001583	missense	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.871G>C	4.37:g.4304434G>C	ENSP00000338807:p.Asp291His		4355335	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	CCDS3375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.25|15.25	2.777070|2.777070	0.49786|0.49786	.|.	.|.	ENSG00000168826|ENSG00000168826	ENST00000355834;ENST00000337872|ENST00000504302	T;T|.	0.14391|.	2.51;2.85|.	5.05|5.05	2.3|2.3	0.28687|0.28687	.|.	0.395731|.	0.24162|.	N|.	0.040967|.	T|T	0.46964|0.46964	0.1420|0.1420	M|M	0.71581|0.71581	2.175|2.175	0.22819|0.22819	N|N	0.998697|0.998697	D|.	0.67145|.	0.996|.	P|.	0.59703|.	0.862|.	T|T	0.35574|0.35574	-0.9783|-0.9783	10|5	0.48119|.	T|.	0.1|.	.|.	6.8229|6.8229	0.23866|0.23866	0.0696:0.1283:0.6689:0.1332|0.0696:0.1283:0.6689:0.1332	.|.	291|.	Q6ZSB9|.	ZBT49_HUMAN|.	H|H	291|27	ENSP00000348091:D291H;ENSP00000338807:D291H|.	ENSP00000338807:D291H|.	D|Q	+|+	1|3	0|2	ZBTB49|ZBTB49	4355335|4355335	0.964000|0.964000	0.33143|0.33143	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	2.691000|2.691000	0.47010|0.47010	0.364000|0.364000	0.24374|0.24374	0.591000|0.591000	0.81541|0.81541	GAC|CAG		0.512	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		C	4304434	G	C	4304434	3	2	116	1	0	0	0	0	1	0	0	0	17550	942	33	3	877	3	ZBTB49	4	4304434	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	985020	4304434	186849842	29	6254											
C4orf23	152992	genome.wustl.edu	37	4	8465818	8465818	+	Splice_Site	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:8465818G>T	ENST00000389737.4	+	7	1310	c.1310G>T	c.(1309-1311)aGg>aTg	p.R437M	TRMT44_ENST00000513449.2_Splice_Site_p.R196M	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	437					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R45M(1)									ATTGCAGCCAGGTGAGAAGTA	0.463																																																1	Substitution - Missense(1)	ovary(1)	4											140	125	130					4																	8465818		2203	4300	6503	8516718	SO:0001630	splice_region_variant	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1310+1G>T	4.37:g.8465818G>T			8516718	Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470296	0.84533	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.51071	0.72;0.72	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.936;0.996	T	0.78563	-0.2156	10	0.72032	D	0.01	-34.0466	17.1324	0.86729	0.0:0.0:1.0:0.0	.	437;196	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	M	196;437;45	ENSP00000424643:R196M;ENSP00000374387:R437M	ENSP00000285635:R45M	R	+	2	0	METTL19	8516718	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.201000	0.89735	2.350000	0.79820	0.558000	0.71614	AGG		0.463	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544	Missense_Mutation	T	8465818	G	T	8465818	5	4	116	1	0	0	0	0	0	0	1	0	2256	1014	35	3	1336	3	C4orf23	4	8465818	Splice_Site	SNP	G	TCGA-13-0920-01A-01W-0421-09	4161384	8465818	182688458	30	6255											
ANAPC4	29945	genome.wustl.edu	37	4	25417157	25417157	+	Silent	SNP	A	A	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:25417157A>G	ENST00000315368.3	+	26	2038	c.1896A>G	c.(1894-1896)agA>agG	p.R632R	ANAPC4_ENST00000510092.1_Silent_p.R633R	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	632					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.R632R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AAAAAGTCAGAAGAAGGTAAG	0.348																																																1	Substitution - coding silent(1)	ovary(1)	4											106	107	107					4																	25417157		2203	4300	6503	25026255	SO:0001819	synonymous_variant	29945			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1896A>G	4.37:g.25417157A>G			25026255	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	CCDS3434.1																																																																																				0.348	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		G	25417157	A	G	25417157	2	3	116	1	0	0	0	0	0	0	0	1	604	243	9	4		4	ANAPC4	4	25417157	Silent	SNP	A	TCGA-13-0920-01A-01W-0421-09	16951339	25417157	165737119	31	6256											
CLOCK	9575	genome.wustl.edu	37	4	56310050	56310050	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:56310050T>A	ENST00000309964.4	-	19	1956	c.1706A>T	c.(1705-1707)cAa>cTa	p.Q569L	CLOCK_ENST00000513440.1_Missense_Mutation_p.Q569L|CLOCK_ENST00000381322.1_Missense_Mutation_p.Q569L	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	569	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Interaction with SIRT1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q569L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AGGATTTGATTGTTGCAAAAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	4											54	51	52					4																	56310050		2203	4300	6503	56004807	SO:0001583	missense	9575			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1706A>T	4.37:g.56310050T>A	ENSP00000308741:p.Gln569Leu		56004807	A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420581	0.42918	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.05447	3.44;3.44;3.44	5.77	5.77	0.91146	.	0.314059	0.39407	N	0.001377	T	0.12263	0.0298	M	0.79123	2.44	0.51767	D	0.999939	P	0.41748	0.761	B	0.37267	0.245	T	0.01140	-1.1439	10	0.72032	D	0.01	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	569	O15516	CLOCK_HUMAN	L	569	ENSP00000308741:Q569L;ENSP00000370723:Q569L;ENSP00000426983:Q569L	ENSP00000308741:Q569L	Q	-	2	0	CLOCK	56004807	1.000000	0.71417	0.996000	0.52242	0.166000	0.22503	6.175000	0.71949	2.326000	0.78906	0.533000	0.62120	CAA		0.313	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		A	56310050	T	A	56310050	3	1	116	1	0	0	0	0	1	0	0	0	3549	1812	63	5	850	5	CLOCK	4	56310050	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09	30892893	56310050	134844226	32	6257											
EPHA5	2044	genome.wustl.edu	37	4	66242742	66242742	+	Silent	SNP	G	G	A	rs200675919		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:66242742G>A	ENST00000273854.3	-	9	2430	c.1830C>T	c.(1828-1830)tgC>tgT	p.C610C	EPHA5_ENST00000511294.1_Silent_p.C611C|EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000432638.2_Silent_p.C447C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	610					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.C610C(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGGCAACAGCGCACAGGGAAG	0.473										TSP Lung(17;0.13)			G|||	1	0.000199681	8e-04	0	5008	,	,		15086	0		0	False		,,,				2504	0															2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	4											99	80	87					4																	66242742		2203	4300	6503	65925337	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1830C>T	4.37:g.66242742G>A			65925337	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		A	66242742	G	A	66242742	2	1	116	1	0	0	0	0	0	0	0	1	5170	1079	38	1		1	EPHA5	4	66242742	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09	9932692	66242742	124911534	33	6258											
HTN3	3347	genome.wustl.edu	37	4	70896494	70896494	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:70896494A>T	ENST00000530128.1	+	2	112	c.37A>T	c.(37-39)Atg>Ttg	p.M13L	HTN3_ENST00000381057.3_Missense_Mutation_p.M13L|HTN3_ENST00000526767.1_Missense_Mutation_p.M13L			P15516	HIS3_HUMAN	histatin 3	13					biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.M13L(1)		breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						CTTGGCTCTCATGCTTTCCAT	0.328																																																1	Substitution - Missense(1)	ovary(1)	4											124	119	121					4																	70896494		2203	4299	6502	70931083	SO:0001583	missense	3347				CCDS33999.1	4q13	2008-08-29							5284	protein-coding gene	gene with protein product		142702					Standard	NM_000200		Approved	HIS2	uc003hew.2	P15516		ENST00000530128.1:c.37A>T	4.37:g.70896494A>T	ENSP00000432561:p.Met13Leu		70931083	Q16243|Q502Z1	Missense_Mutation	SNP	ENST00000530128.1	37	CCDS33999.1	.	.	.	.	.	.	.	.	.	.	A	2.220	-0.378651	0.05000	.	.	ENSG00000205649	ENST00000526767;ENST00000530128;ENST00000381057	T;T;T	0.61859	0.44;0.44;0.07	2.62	-3.7	0.04437	.	.	.	.	.	T	0.38719	0.1051	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.31724	-0.9933	8	0.87932	D	0	.	3.3137	0.07026	0.4246:0.0:0.3817:0.1936	.	13	P15516	HIS3_HUMAN	L	13	ENSP00000437158:M13L;ENSP00000432561:M13L;ENSP00000370445:M13L	ENSP00000370445:M13L	M	+	1	0	HTN3	70931083	0.000000	0.05858	0.017000	0.16124	0.029000	0.11900	-0.712000	0.05013	-0.766000	0.04639	-1.486000	0.00981	ATG		0.328	HTN3-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387375.1	NM_000200		T	70896494	A	T	70896494	3	4	116	1	0	0	0	0	1	0	0	0	7435	217	8	5	39	5	HTN3	4	70896494	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09	4653752	70896494	120257782	34	6259											
ALB	213	genome.wustl.edu	37	4	74276114	74276114	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:74276114C>A	ENST00000503124.1	+	4	458	c.251C>A	c.(250-252)gCt>gAt	p.A84D	ALB_ENST00000401494.3_Missense_Mutation_p.A119D|ALB_ENST00000295897.4_Missense_Mutation_p.A234D|ALB_ENST00000509063.1_Missense_Mutation_p.A234D|ALB_ENST00000415165.2_Intron|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.A234D(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGAAAGAGCTTTCAAAGCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											75	80	79					4																	74276114		2203	4300	6503	74494978	SO:0001583	missense	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.251C>A	4.37:g.74276114C>A	ENSP00000421027:p.Ala84Asp		74494978	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.595599|3.595599	0.66219|0.66219	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T|.	0.72835|.	-0.69;-0.69;-0.69;-0.69|.	5.65|5.65	3.89|3.89	0.44902|0.44902	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.207613|.	0.42172|.	D|.	0.000741|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.86028|0.86028	2.79|2.79	0.40492|0.40492	D|D	0.98055|0.98055	D;D;D;P|.	0.60575|.	0.988;0.977;0.972;0.951|.	P;P;P;P|.	0.58013|.	0.831;0.724;0.821;0.724|.	T|T	0.76055|0.76055	-0.3099|-0.3099	10|5	0.87932|.	D|.	0|.	-10.2682|-10.2682	8.2723|8.2723	0.31851|0.31851	0.0:0.7582:0.1561:0.0857|0.0:0.7582:0.1561:0.0857	.|.	119;84;234;234|.	B7WNR0;D6RHD5;A6NBZ8;P02768|.	.;.;.;ALBU_HUMAN|.	D|R	234;84;234;119;243|78	ENSP00000295897:A234D;ENSP00000421027:A84D;ENSP00000422784:A234D;ENSP00000384695:A119D|.	ENSP00000295897:A234D|.	A|S	+|+	2|3	0|2	ALB|ALB	74494978|74494978	0.829000|0.829000	0.29322|0.29322	0.994000|0.994000	0.49952|0.49952	0.845000|0.845000	0.48019|0.48019	1.071000|1.071000	0.30666|0.30666	1.364000|1.364000	0.46038|0.46038	0.555000|0.555000	0.69702|0.69702	GCT|AGC		0.363	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		A	74276114	C	A	74276114	3	1	116	1	0	0	0	0	1	0	0	0	486	797	28	3	723	3	ALB	4	74276114	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	3379620	74276114	116878162	35	6260											
SCD5	79966	genome.wustl.edu	37	4	83626508	83626508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:83626508C>T	ENST00000319540.4	-	2	610	c.291G>A	c.(289-291)tgG>tgA	p.W97*	SCD5_ENST00000282709.4_Nonsense_Mutation_p.W97*|SCD5_ENST00000273908.4_Nonsense_Mutation_p.W97*	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	97					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.W97*(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACCTGTGGCTCCACAAGCGAT	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	4											67	61	63					4																	83626508		2203	4300	6503	83845532	SO:0001587	stop_gained	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.291G>A	4.37:g.83626508C>T	ENSP00000316329:p.Trp97*		83845532	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Nonsense_Mutation	SNP	ENST00000319540.4	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	37	6.501386	0.97616	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	.	.	.	5.12	5.12	0.69794	.	0.111911	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2504	18.7141	0.91668	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000273908:W97X	W	-	3	0	SCD5	83845532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.446000	0.80609	2.826000	0.97356	0.491000	0.48974	TGG		0.582	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		T	83626508	C	T	83626508	4	4	116	1	0	0	0	0	0	1	0	0	13890	856	30	2	923	2	SCD5	4	83626508	Nonsense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	9350394	83626508	107527768	36	6261											
PTPN13	5783	genome.wustl.edu	37	4	87730941	87730941	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:87730941T>C	ENST00000411767.2	+	46	7166	c.7103T>C	c.(7102-7104)aTt>aCt	p.I2368T	PTPN13_ENST00000436978.1_Missense_Mutation_p.I2373T|PTPN13_ENST00000511467.1_Missense_Mutation_p.I2373T|PTPN13_ENST00000427191.2_Missense_Mutation_p.I2349T|PTPN13_ENST00000316707.6_Missense_Mutation_p.I2177T			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2368	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.I2373T(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTGCGCCATATTTCTCATCTG	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											159	143	148					4																	87730941		1937	4151	6088	87949965	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7103T>C	4.37:g.87730941T>C	ENSP00000407249:p.Ile2368Thr		87949965	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.798119	0.70567	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.31	4.08	0.47627	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.247539	0.28241	N	0.016078	T	0.44393	0.1291	M	0.84585	2.705	0.41066	D	0.985417	P;P;D;D	0.54772	0.801;0.931;0.968;0.96	P;D;D;D	0.72338	0.869;0.962;0.977;0.962	T	0.51710	-0.8671	10	0.87932	D	0	.	12.4055	0.55436	0.0:0.0:0.14:0.86	.	2177;2349;2368;2373	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	T	2349;2373;2177;2368;2373;2317	ENSP00000408368:I2349T;ENSP00000394794:I2373T;ENSP00000322675:I2177T;ENSP00000407249:I2368T;ENSP00000426626:I2373T	ENSP00000322675:I2177T	I	+	2	0	PTPN13	87949965	1.000000	0.71417	0.862000	0.33874	0.983000	0.72400	5.720000	0.68470	2.003000	0.58678	0.533000	0.62120	ATT		0.378	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			C	87730941	T	C	87730941	3	2	116	1	0	0	0	0	1	0	0	0	12785	1493	52	4	7296	4	PTPN13	4	87730941	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09	4104433	87730941	103423335	37	6262											
ADH1A	124	genome.wustl.edu	37	4	100208014	100208014	+	Silent	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:100208014G>A	ENST00000209668.2	-	3	365	c.252C>T	c.(250-252)gtC>gtT	p.V84V	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	84					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.V84V(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TACCTGGTTTGACTGTAGTCA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	4											223	204	210					4																	100208014		2203	4300	6503	100427037	SO:0001819	synonymous_variant	124			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.252C>T	4.37:g.100208014G>A			100427037	A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	CCDS3648.1																																																																																				0.512	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		A	100208014	G	A	100208014	2	1	116	1	0	0	0	0	0	0	0	1	307	1277	45	2		2	ADH1A	4	100208014	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09	12477073	100208014	90946262	38	6263											
RPS3A	6189	genome.wustl.edu	37	4	152024193	152024193	+	Silent	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:152024193G>A	ENST00000509736.1	+	2	262	c.168G>A	c.(166-168)gaG>gaA	p.E56E	RPS3A_ENST00000506126.1_Silent_p.E138E|SNORD73_ENST00000364394.1_RNA|SNORD73A_ENST00000386062.1_RNA|RPS3A_ENST00000274065.4_Silent_p.E175E|RPS3A_ENST00000514682.1_Silent_p.E138E|RPS3A_ENST00000512690.1_Silent_p.E175E|RPS3A_ENST00000322686.6_Silent_p.E162E					ribosomal protein S3A									p.E175E(1)		endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					TGACCCGAGAGGTGCAGACAA	0.413																																																1	Substitution - coding silent(1)	ovary(1)	4											24	22	23					4																	152024193		2201	4284	6485	152243643	SO:0001819	synonymous_variant	6189			X87373	CCDS3775.1	4q31.2-q31.3	2011-04-05			ENSG00000145425	ENSG00000145425		"S ribosomal proteins"	10421	protein-coding gene	gene with protein product		180478		MFTL		8647443, 1398113	Standard	NM_001006		Approved	S3A	uc003ilz.4	P61247	OTTHUMG00000161445	ENST00000509736.1:c.168G>A	4.37:g.152024193G>A			152243643		Silent	SNP	ENST00000509736.1	37																																																																																					0.413	RPS3A-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000364962.2			A	152024193	G	A	152024193	2	1	116	1	0	0	0	0	0	0	0	1	13647	991	35	2		2	RPS3A	4	152024193	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09	51816179	152024193	39130083	39	6264											
KLKB1	3818	genome.wustl.edu	37	4	187177216	187177216	+	Silent	SNP	C	C	A	rs376558433	byFrequency	TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr4:187177216C>A	ENST00000264690.6	+	13	1747	c.1560C>A	c.(1558-1560)acC>acA	p.T520T	KLKB1_ENST00000513864.1_Silent_p.T520T	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	520	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.T520T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTTGGGTAACCGGATGGGGCT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	4											66	68	67					4																	187177216		2203	4300	6503	187414210	SO:0001819	synonymous_variant	3818			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1560C>A	4.37:g.187177216C>A			187414210	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Silent	SNP	ENST00000264690.6	37	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	C	0.560	-0.845685	0.02671	.	.	ENSG00000164344	ENST00000511608	.	.	.	5.77	-1.7	0.08159	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28650	-1.0037	4	.	.	.	.	2.1511	0.03800	0.1167:0.1328:0.2424:0.508	.	.	.	.	Q	568	.	.	P	+	2	0	KLKB1	187414210	0.932000	0.31603	0.939000	0.37840	0.070000	0.16714	-0.130000	0.10498	-0.137000	0.11455	-1.264000	0.01445	CCG		0.378	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		A	187177216	C	A	187177216	2	1	116	1	0	0	0	0	0	0	0	1	8412	639	23	3		3	KLKB1	4	187177216	Silent	SNP	C	TCGA-13-0920-01A-01W-0421-09	35153023	187177216	3977060	40	6265											
MATR3	9782	genome.wustl.edu	37	5	138643823	138643823	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr5:138643823C>G	ENST00000394805.3	+	2	1054	c.719C>G	c.(718-720)tCg>tGg	p.S240W	MATR3_ENST00000509990.1_Missense_Mutation_p.S240W|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.S240W|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.S240W|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.S240W|MATR3_ENST00000502929.1_Missense_Mutation_p.S240W	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	240					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.S240W(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGTGAGACCTCGCATAACTAT	0.413																																																1	Substitution - Missense(1)	ovary(1)	5											91	89	90					5																	138643823		2203	4300	6503	138671722	SO:0001583	missense	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.719C>G	5.37:g.138643823C>G	ENSP00000378284:p.Ser240Trp		138671722	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.70|15.70	2.911710|2.911710	0.52439|0.52439	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000515833|ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056	.|T;T;T;T;T;T;T	.|0.80304	.|-0.95;-0.95;-0.97;-0.97;-0.95;-1.36;-0.95	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.052565	.|0.85682	.|D	.|0.000000	D|D	0.84188|0.84188	0.5417|0.5417	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.998;0.995;0.998	.|P;D;P	.|0.72625	.|0.892;0.978;0.892	D|D	0.86317|0.86317	0.1690|0.1690	5|10	.|0.87932	.|D	.|0	-2.481|-2.481	19.5239|19.5239	0.95196|0.95196	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|240;240;240	.|D6REM6;A8MXP9;P43243	.|.;.;MATR3_HUMAN	G|W	14|240	.|ENSP00000423533:S240W;ENSP00000354346:S240W;ENSP00000422319:S240W;ENSP00000378279:S240W;ENSP00000378284:S240W;ENSP00000423290:S240W;ENSP00000426743:S240W	.|ENSP00000354346:S240W	R|S	+|+	1|2	0|0	MATR3|MATR3	138671722|138671722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.823000|6.823000	0.75282|0.75282	2.689000|2.689000	0.91719|0.91719	0.561000|0.561000	0.74099|0.74099	CGC|TCG		0.413	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		G	138643823	C	G	138643823	3	3	116	1	0	0	0	0	1	0	0	0	9337	893	31	3	721	3	MATR3	5	138643823	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09		138643823	42271437	41	6266											
ADAM19	8728	genome.wustl.edu	37	5	156918668	156918668	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr5:156918668G>A	ENST00000517905.1	-	18	2094	c.2050C>T	c.(2050-2052)Ccg>Tcg	p.P684S	ADAM19_ENST00000257527.4_Missense_Mutation_p.P684S|ADAM19_ENST00000430702.2_Missense_Mutation_p.P417S|ADAM19_ENST00000394020.1_Missense_Mutation_p.P686S			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	684					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P685S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGTGGCCCGGTGTGTTGCAG	0.637																																																1	Substitution - Missense(1)	ovary(1)	5											22	24	24					5																	156918668		2203	4299	6502	156851246	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2050C>T	5.37:g.156918668G>A	ENSP00000428654:p.Pro684Ser		156851246	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.	.	.	.	.	.	.	.	.	.	G	6.351	0.432893	0.12045	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.93	3.06	0.35304	.	0.624961	0.14949	N	0.289033	T	0.66167	0.2762	L	0.35793	1.09	0.09310	N	1	B;B;B	0.14438	0.01;0.003;0.001	B;B;B	0.17433	0.018;0.002;0.001	T	0.47711	-0.9096	10	0.17832	T	0.49	.	3.4908	0.07637	0.1749:0.1951:0.5205:0.1095	.	684;684;417	Q9H013-2;Q9H013;E9PD32	.;ADA19_HUMAN;.	S	417;684;686;684	ENSP00000414088:P417S;ENSP00000257527:P684S;ENSP00000377588:P686S;ENSP00000428654:P684S	ENSP00000257527:P684S	P	-	1	0	ADAM19	156851246	0.000000	0.05858	0.019000	0.16419	0.558000	0.35554	0.110000	0.15437	1.058000	0.40530	0.563000	0.77884	CCG		0.637	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		A	156918668	G	A	156918668	3	1	116	1	0	0	0	0	1	0	0	0	240	1261	44	2	730	2	ADAM19	5	156918668	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	18274845	156918668	23996592	42	6267											
RUFY1	80230	genome.wustl.edu	37	5	179020599	179020599	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr5:179020599C>G	ENST00000319449.4	+	11	1378	c.1366C>G	c.(1366-1368)Ctg>Gtg	p.L456V	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000393438.2_Missense_Mutation_p.L348V|RUFY1_ENST00000437570.2_Missense_Mutation_p.L348V	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	456					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.L348V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCCAGCAGCTGGAAGAAGT	0.473										HNSCC(44;0.11)																																						1	Substitution - Missense(1)	ovary(1)	5											101	105	104					5																	179020599		2203	4300	6503	178953205	SO:0001583	missense	80230			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1366C>G	5.37:g.179020599C>G	ENSP00000325594:p.Leu456Val		178953205	Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	CCDS4445.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	7.522|7.522|7.522	0.656867|0.656867|0.656867	0.14580|0.14580|0.14580	.|.|.	.|.|.	ENSG00000176783|ENSG00000176783|ENSG00000176783	ENST00000502434|ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569|ENST00000508609	.|T;T;T|.	.|0.60672|.	.|0.17;0.27;0.27|.	5.12|5.12|5.12	3.21|3.21|3.21	0.36854|0.36854|0.36854	.|.|.	.|0.069068|.	.|0.64402|.	.|D|.	.|0.000015|.	T|T|T	0.59238|0.59238|0.59238	0.2179|0.2179|0.2179	M|M|M	0.64997|0.64997|0.64997	1.995|1.995|1.995	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P|.	.|0.35959|.	.|0.53|.	.|B|.	.|0.36418|.	.|0.224|.	T|T|T	0.57254|0.57254|0.57254	-0.7843|-0.7843|-0.7843	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	-12.4356|-12.4356|-12.4356	5.4481|5.4481|5.4481	0.16548|0.16548|0.16548	0.0:0.6015:0.1541:0.2444|0.0:0.6015:0.1541:0.2444|0.0:0.6015:0.1541:0.2444	.|.|.	.|456|.	.|Q96T51|.	.|RUFY1_HUMAN|.	G|V|R	133|456;348;348;58|244	.|ENSP00000325594:L456V;ENSP00000390025:L348V;ENSP00000377087:L348V|.	.|ENSP00000325594:L456V|.	A|L|S	+|+|+	2|1|3	0|2|2	RUFY1|RUFY1|RUFY1	178953205|178953205|178953205	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.022000|0.022000|0.022000	0.10575|0.10575|0.10575	2.963000|2.963000|2.963000	0.49184|0.49184|0.49184	1.286000|1.286000|1.286000	0.44565|0.44565|0.44565	-0.291000|-0.291000|-0.291000	0.09656|0.09656|0.09656	GCT|CTG|AGC		0.473	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		G	179020599	C	G	179020599	3	3	116	1	0	0	0	0	1	0	0	0	13741	796	28	3	1408	3	RUFY1	5	179020599	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	22101931	179020599	1894661	43	6268											
CDKAL1	54901	genome.wustl.edu	37	6	20846328	20846328	+	Missense_Mutation	SNP	T	T	A	rs112984088		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:20846328T>A	ENST00000378610.1	+	7	671	c.661T>A	c.(661-663)Tgc>Agc	p.C221S	CDKAL1_ENST00000274695.4_Missense_Mutation_p.C221S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.C151S			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	221					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.C221S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTGTACCTACTGCAAAACTAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	6											75	76	75					6																	20846328		2203	4300	6503	20954307	SO:0001583	missense	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.661T>A	6.37:g.20846328T>A	ENSP00000367873:p.Cys221Ser		20954307	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.911048	0.92178	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	D;D;D	0.99807	-6.85;-6.85;-6.85	5.81	5.81	0.92471	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Methylthiotransferase, conserved site (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	H	0.99325	4.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95984	0.8980	10	0.87932	D	0	.	16.1616	0.81721	0.0:0.0:0.0:1.0	.	151;221	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	S	221;151;221	ENSP00000274695:C221S;ENSP00000367889:C151S;ENSP00000367873:C221S	ENSP00000274695:C221S	C	+	1	0	CDKAL1	20954307	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.528000	0.81941	2.218000	0.71995	0.377000	0.23210	TGC		0.338	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		A	20846328	T	A	20846328	3	1	116	1	0	0	0	0	1	0	0	0	3152	1580	55	5	687	5	CDKAL1	6	20846328	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09		20846328	150268739	44	6269											
TDP2	51567	genome.wustl.edu	37	6	24666798	24666798	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:24666798G>T	ENST00000378198.4	-	2	377	c.207C>A	c.(205-207)agC>agA	p.S69R	ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000545995.1_Missense_Mutation_p.S99R|ACOT13_ENST00000537591.1_5'Flank|TDP2_ENST00000341060.3_5'UTR			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	69					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)	p.S69R(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GTTCCAAGGCGCTCTCCTCCA	0.567								Direct reversal of damage																																								1	Substitution - Missense(1)	ovary(1)	6											152	157	155					6																	24666798		2203	4300	6503	24774777	SO:0001583	missense	51567			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.207C>A	6.37:g.24666798G>T	ENSP00000367440:p.Ser69Arg		24774777	B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911659	0.52439	.	.	ENSG00000111802	ENST00000378198;ENST00000545995	T;T	0.22945	1.95;1.93	4.24	2.34	0.29019	.	0.926970	0.09321	N	0.818183	T	0.06781	0.0173	L	0.44542	1.39	0.19300	N	0.999978	B;B	0.14438	0.01;0.006	B;B	0.12156	0.007;0.003	T	0.37641	-0.9697	10	0.18276	T	0.48	-14.0259	5.1666	0.15088	0.1092:0.0:0.6891:0.2018	.	99;69	O95551-2;O95551	.;TYDP2_HUMAN	R	69;99	ENSP00000367440:S69R;ENSP00000437637:S99R	ENSP00000367440:S69R	S	-	3	2	TDP2	24774777	0.000000	0.05858	0.641000	0.29422	0.814000	0.46013	-0.036000	0.12185	0.988000	0.38734	0.655000	0.94253	AGC		0.567	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			T	24666798	G	T	24666798	3	4	116	1	0	0	0	0	1	0	0	0	15729	1078	38	3	905	3	TDP2	6	24666798	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	3820470	24666798	146448269	45	6270											
TRIM39	56658	genome.wustl.edu	37	6	30309785	30309785	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:30309785G>A	ENST00000396547.1	+	8	1466	c.1306G>A	c.(1306-1308)Ggg>Agg	p.G436R	TRIM39_ENST00000376659.5_Missense_Mutation_p.G406R|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000396548.1_Missense_Mutation_p.G406R|TRIM39_ENST00000540416.1_Missense_Mutation_p.G406R|TRIM39_ENST00000376656.4_Missense_Mutation_p.G436R|TRIM39_ENST00000396551.3_Missense_Mutation_p.G406R			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G436R(1)		ovary(3)	3						GCTATGGAATGGGGACAAATA	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											66	62	63					6																	30309785		1511	2709	4220	30417764	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1306G>A	6.37:g.30309785G>A	ENSP00000379796:p.Gly436Arg		30417764	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.68|19.68	3.872427|3.872427	0.72180|0.72180	.|.	.|.	ENSG00000204599|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000396548;ENST00000376659;ENST00000396547|ENST00000449040	T;T;T;T;T;T|.	0.62364|.	0.03;0.03;0.03;0.03;0.03;0.03|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);|.	0.081067|.	0.52532|.	D|.	0.000065|.	T|T	0.59514|0.59514	0.2199|0.2199	L|L	0.50333|0.50333	1.59|1.59	0.41368|0.41368	D|D	0.987472|0.987472	D;B|.	0.54207|.	0.965;0.025|.	P;B|.	0.51777|.	0.679;0.052|.	T|T	0.53892|0.53892	-0.8374|-0.8374	10|6	0.56958|0.25106	D|T	0.05|0.35	.|.	17.5141|17.5141	0.87768|0.87768	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	436;406|.	Q9HCM9;Q9HCM9-2|.	TRI39_HUMAN;.|.	R|I	406;436;436;406;406;406;436|394	ENSP00000379800:G406R;ENSP00000365844:G436R;ENSP00000439400:G406R;ENSP00000379797:G406R;ENSP00000365847:G406R;ENSP00000379796:G436R|.	ENSP00000365844:G436R|ENSP00000406562:M394I	G|M	+|+	1|3	0|0	TRIM39|TRIM39	30417764|30417764	0.992000|0.992000	0.36948|0.36948	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	3.029000|3.029000	0.49712|0.49712	2.730000|2.730000	0.93505|0.93505	0.655000|0.655000	0.94253|0.94253	GGG|ATG		0.577	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		A	30309785	G	A	30309785	3	1	116	1	0	0	0	0	1	0	0	0	16513	1348	47	2	1332	2	TRIM39	6	30309785	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	5642987	30309785	140805282	46	6271											
C6orf134	79969	genome.wustl.edu	37	6	30610562	30610562	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:30610562G>C	ENST00000376485.4	+	10	772	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	ATAT1_ENST00000330083.5_Missense_Mutation_p.E236Q|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000318999.7_Missense_Mutation_p.E225Q|ATAT1_ENST00000319027.5_Missense_Mutation_p.E225Q|ATAT1_ENST00000376483.4_Missense_Mutation_p.E248Q|ATAT1_ENST00000329992.8_Missense_Mutation_p.E248Q|ATAT1_ENST00000376478.2_Missense_Mutation_p.E225Q					alpha tubulin acetyltransferase 1									p.E248Q(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GGTAGCTGTGGAGCCTCCTTG	0.562																																																1	Substitution - Missense(1)	ovary(1)	6											28	31	30					6																	30610562		2201	4300	6501	30718541	SO:0001583	missense	79969			AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"alpha-tubulin N-acetyltransferase"	615556	"chromosome 6 open reading frame 134"	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.742G>C	6.37:g.30610562G>C	ENSP00000365668:p.Glu248Gln		30718541		Missense_Mutation	SNP	ENST00000376485.4	37		.	.	.	.	.	.	.	.	.	.	g	20.2	3.942878	0.73672	.	.	ENSG00000137343	ENST00000318999;ENST00000376485;ENST00000376478;ENST00000319027;ENST00000376483;ENST00000329992;ENST00000330083	.	.	.	5.01	5.01	0.66863	.	0.344010	0.28724	N	0.014355	T	0.60274	0.2256	L	0.51422	1.61	0.37120	D	0.900786	P;P;P;P;D;D	0.89917	0.944;0.808;0.82;0.916;0.974;1.0	P;P;P;P;P;D	0.85130	0.482;0.528;0.533;0.584;0.719;0.997	T	0.54596	-0.8270	9	0.18276	T	0.48	-16.5214	15.3524	0.74399	0.0:0.0:1.0:0.0	.	213;225;236;248;225;248	B7Z4Q7;Q5SQI0-3;Q5SQI0-2;Q5SQI0;Q5SQI0-6;Q5SQI0-4	.;.;.;ATAT_HUMAN;.;.	Q	225;248;225;225;248;248;236	.	ENSP00000324222:E225Q	E	+	1	0	ATAT1	30718541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.845000	0.62853	2.599000	0.87857	0.493000	0.49557	GAG		0.562	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		C	30610562	G	C	30610562	3	2	116	1	0	0	0	0	1	0	0	0	2330	1175	41	3	780	3	C6orf134	6	30610562	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	300777	30610562	140504505	47	6272											
SLC44A4	80736	genome.wustl.edu	37	6	31838621	31838621	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:31838621T>C	ENST00000229729.6	-	10	925	c.905A>G	c.(904-906)tAc>tGc	p.Y302C	SLC44A4_ENST00000375562.4_Missense_Mutation_p.Y260C|SLC44A4_ENST00000544672.1_Missense_Mutation_p.Y226C	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	302					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y302C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACGCTCTGGTAGGCACTGAG	0.672																																																1	Substitution - Missense(1)	ovary(1)	6											63	57	60					6																	31838621		1510	2707	4217	31946600	SO:0001583	missense	80736			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.905A>G	6.37:g.31838621T>C	ENSP00000229729:p.Tyr302Cys		31946600	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766385	0.69878	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.14266	2.89;2.52;2.71	4.38	4.38	0.52667	.	0.147206	0.47093	D	0.000249	T	0.28034	0.0691	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.987	T	0.05954	-1.0854	10	0.87932	D	0	-16.3532	12.9925	0.58627	0.0:0.0:0.0:1.0	.	260;302	E9PEK7;Q53GD3	.;CTL4_HUMAN	C	302;260;226	ENSP00000229729:Y302C;ENSP00000364712:Y260C;ENSP00000444109:Y226C	ENSP00000229729:Y302C	Y	-	2	0	SLC44A4	31946600	1.000000	0.71417	0.982000	0.44146	0.800000	0.45204	7.197000	0.77814	1.980000	0.57719	0.459000	0.35465	TAC		0.672	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			C	31838621	T	C	31838621	3	2	116	1	0	0	0	0	1	0	0	0	14641	1638	57	4	1275	4	SLC44A4	6	31838621	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09	1228059	31838621	139276446	48	6273											
PRPH2	5961	genome.wustl.edu	37	6	42672306	42672306	+	Missense_Mutation	SNP	C	C	T	rs62645934|rs281865372		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:42672306C>T	ENST00000230381.5	-	2	864	c.625G>A	c.(625-627)Gtc>Atc	p.V209I		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	209					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.V209I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTGAAAGGGACGCCGTCCACC	0.572																																																1	Substitution - Missense(1)	ovary(1)	6	GRCh37	CD972426	PRPH2	D							155	118	130					6																	42672306		2203	4300	6503	42780284	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.625G>A	6.37:g.42672306C>T	ENSP00000230381:p.Val209Ile		42780284	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146706	0.94603	.	.	ENSG00000112619	ENST00000230381	D	0.87650	-2.28	5.1	5.1	0.69264	Tetraspanin, EC2 domain (1);Peripherin/rom-1, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92388	0.7584	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92488	0.5998	10	0.54805	T	0.06	.	18.5136	0.90926	0.0:1.0:0.0:0.0	.	209	P23942	PRPH2_HUMAN	I	209	ENSP00000230381:V209I	ENSP00000230381:V209I	V	-	1	0	PRPH2	42780284	1.000000	0.71417	0.902000	0.35471	0.704000	0.40688	7.764000	0.85297	2.383000	0.81215	0.655000	0.94253	GTC		0.572	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		T	42672306	C	T	42672306	3	4	116	1	0	0	0	0	1	0	0	0	12580	536	19	1	423	1	PRPH2	6	42672306	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	10833685	42672306	128442761	49	6274											
ABCC10	89845	genome.wustl.edu	37	6	43416922	43416922	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:43416922G>T	ENST00000372530.4	+	20	4398	c.4183G>T	c.(4183-4185)Gct>Tct	p.A1395S	ABCC10_ENST00000244533.3_Missense_Mutation_p.A1367S	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1395	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A1367S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TTTGGCCAGGGCTCTCCTCAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	6											89	88	88					6																	43416922		2203	4300	6503	43524900	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4183G>T	6.37:g.43416922G>T	ENSP00000361608:p.Ala1395Ser		43524900	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266146	0.95399	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.93366	-3.21;-3.21	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.979;0.998	D	0.95809	0.8840	10	0.56958	D	0.05	-2.7181	19.3082	0.94173	0.0:0.0:1.0:0.0	.	1367;1395	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	S	1395;1367;151	ENSP00000361608:A1395S;ENSP00000244533:A1367S	ENSP00000244533:A1367S	A	+	1	0	ABCC10	43524900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.588000	0.87417	0.585000	0.79938	GCT		0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43416922	G	T	43416922	3	4	116	1	0	0	0	0	1	0	0	0	50	1203	42	3	4169	3	ABCC10	6	43416922	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	744616	43416922	127698145	50	6275											
SLC35B2	347734	genome.wustl.edu	37	6	44224594	44224594	+	Silent	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:44224594C>T	ENST00000393812.3	-	2	176	c.33G>A	c.(31-33)ctG>ctA	p.L11L	SLC35B2_ENST00000393810.1_Silent_p.L11L|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000495706.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	11					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)	p.L11L(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAACGCAGCCAGCACCACCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	6											63	68	66					6																	44224594		2203	4300	6503	44332572	SO:0001819	synonymous_variant	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.33G>A	6.37:g.44224594C>T			44332572	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	CCDS34462.1																																																																																				0.612	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			T	44224594	C	T	44224594	2	4	116	1	0	0	0	0	0	0	0	1	14579	581	21	2		2	SLC35B2	6	44224594	Silent	SNP	C	TCGA-13-0920-01A-01W-0421-09	807672	44224594	126890473	51	6276											
TFAP2D	83741	genome.wustl.edu	37	6	50740458	50740458	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:50740458A>T	ENST00000008391.3	+	8	1468	c.1240A>T	c.(1240-1242)Act>Tct	p.T414S		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.T414S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAAACACACTACTCACAAGAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											66	65	65					6																	50740458		2203	4300	6503	50848417	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1240A>T	6.37:g.50740458A>T	ENSP00000008391:p.Thr414Ser		50848417		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	A	1.456	-0.563756	0.03939	.	.	ENSG00000008197	ENST00000008391	D	0.96992	-4.2	5.31	0.131	0.14755	.	0.629162	0.16681	N	0.203945	T	0.77405	0.4125	N	0.08118	0	0.27990	N	0.935684	B	0.02656	0.0	B	0.09377	0.004	T	0.70575	-0.4834	10	0.29301	T	0.29	0.2228	3.7917	0.08722	0.3667:0.0:0.3417:0.2915	.	414	Q7Z6R9	AP2D_HUMAN	S	414	ENSP00000008391:T414S	ENSP00000008391:T414S	T	+	1	0	TFAP2D	50848417	0.718000	0.27976	0.974000	0.42286	0.660000	0.38997	1.054000	0.30455	0.013000	0.14918	-0.456000	0.05471	ACT		0.507	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		T	50740458	A	T	50740458	3	4	116	1	0	0	0	0	1	0	0	0	15790	391	14	5	1270	5	TFAP2D	6	50740458	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09	6515864	50740458	120374609	52	6277											
PKHD1	5314	genome.wustl.edu	37	6	51890438	51890438	+	Silent	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:51890438C>A	ENST00000371117.3	-	32	4445	c.4170G>T	c.(4168-4170)cgG>cgT	p.R1390R	PKHD1_ENST00000340994.4_Silent_p.R1390R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1390	IPT/TIG 9.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R1390R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGCCATTATCCGAGGCATCA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	6											84	79	81					6																	51890438		2203	4300	6503	51998397	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4170G>T	6.37:g.51890438C>A			51998397	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51890438	C	A	51890438	2	1	116	1	0	0	0	0	0	0	0	1	11971	842	30	3		3	PKHD1	6	51890438	Silent	SNP	C	TCGA-13-0920-01A-01W-0421-09	1149980	51890438	119224629	53	6278											
MYCT1	80177	genome.wustl.edu	37	6	153042883	153042883	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr6:153042883T>A	ENST00000367245.5	+	2	211	c.203T>A	c.(202-204)cTt>cAt	p.L68H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	68						nucleus (GO:0005634)		p.L68H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TCAGAGGACCTTATCATGTCC	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											120	109	113					6																	153042883		2203	4300	6503	153084576	SO:0001583	missense	80177			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.203T>A	6.37:g.153042883T>A	ENSP00000356214:p.Leu68His		153084576	Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.410072|4.410072	0.83340|0.83340	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|T	0.39229|0.35236	1.09|1.32	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.452713|0.452713	0.23898|0.23898	N|N	0.043469|0.043469	T|T	0.31040|0.31040	0.0784|0.0784	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.994|.	D;P|.	0.63192|.	0.912;0.874|.	T|T	0.03587|0.03587	-1.1022|-1.1022	10|8	0.87932|0.26408	D|T	0|0.33	-7.6957|-7.6957	16.2628|16.2628	0.82557|0.82557	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	20;68|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	H|I	68|49	ENSP00000356214:L68H|ENSP00000434396:L49I	ENSP00000356214:L68H|ENSP00000434396:L49I	L|L	+|+	2|1	0|2	MYCT1|MYCT1	153084576|153084576	0.645000|0.645000	0.27286|0.27286	0.478000|0.478000	0.27316|0.27316	0.979000|0.979000	0.70002|0.70002	4.887000|4.887000	0.63156|0.63156	2.236000|2.236000	0.73375|0.73375	0.519000|0.519000	0.50382|0.50382	CTT|TTA		0.368	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		A	153042883	T	A	153042883	3	1	116	1	0	0	0	0	1	0	0	0	10022	1609	56	5	209	5	MYCT1	6	153042883	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09	101152445	153042883	18072184	54	6279											
RNF216	54476	genome.wustl.edu	37	7	5780945	5780945	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr7:5780945A>C	ENST00000425013.2	-	4	756	c.532T>G	c.(532-534)Ttc>Gtc	p.F178V	RNF216_ENST00000389902.3_Missense_Mutation_p.F235V	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	178					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F235V(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGAGACTGGAAGTAAGGATGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	7											109	110	110					7																	5780945		2203	4300	6503	5747471	SO:0001583	missense	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.532T>G	7.37:g.5780945A>C	ENSP00000404602:p.Phe178Val		5747471	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.229180	0.58777	.	.	ENSG00000011275	ENST00000425013;ENST00000389902	T;T	0.50277	0.8;0.75	5.97	3.59	0.41128	.	0.487236	0.21164	N	0.079105	T	0.44871	0.1314	L	0.59436	1.845	0.29462	N	0.8577	B;B	0.21147	0.034;0.052	B;B	0.29862	0.053;0.108	T	0.48281	-0.9049	10	0.66056	D	0.02	-1.1361	8.0028	0.30308	0.7509:0.0:0.2491:0.0	.	178;235	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	V	178;235	ENSP00000404602:F178V;ENSP00000374552:F235V	ENSP00000374550:F178V	F	-	1	0	RNF216	5747471	0.982000	0.34865	0.841000	0.33234	0.940000	0.58332	1.707000	0.37888	0.498000	0.27948	-0.441000	0.05720	TTC		0.498	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		C	5780945	A	C	5780945	3	2	116	1	0	0	0	0	1	0	0	0	13483	72	3	5	2124	5	RNF216	7	5780945	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09		5780945	153357718	55	6280											
PRPS1L1	221823	genome.wustl.edu	37	7	18067234	18067234	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr7:18067234T>C	ENST00000506618.2	-	1	252	c.172A>G	c.(172-174)Agt>Ggt	p.S58G		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	58					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.S58G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCACAACCACTCTGAACGATG	0.483																																																1	Substitution - Missense(1)	ovary(1)	7											372	360	364					7																	18067234		2203	4300	6503	18033759	SO:0001583	missense	221823			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.172A>G	7.37:g.18067234T>C	ENSP00000424595:p.Ser58Gly		18033759	Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597017	0.66332	.	.	ENSG00000229937	ENST00000506618	D	0.92699	-3.09	4.4	3.24	0.37175	.	.	.	.	.	D	0.95265	0.8464	M	0.89214	3.015	.	.	.	P	0.48911	0.917	P	0.59357	0.856	D	0.96293	0.9215	8	0.87932	D	0	.	8.336	0.32215	0.0:0.0956:0.0:0.9044	.	58	P21108	PRPS3_HUMAN	G	58	ENSP00000424595:S58G	ENSP00000424595:S58G	S	-	1	0	PRPS1L1	18033759	1.000000	0.71417	0.993000	0.49108	0.809000	0.45718	5.559000	0.67326	0.827000	0.34685	0.528000	0.53228	AGT		0.483	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		C	18067234	T	C	18067234	3	2	116	1	0	0	0	0	1	0	0	0	12582	1551	54	4	788	4	PRPS1L1	7	18067234	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09	12286289	18067234	141071429	56	6281											
NFE2L3	9603	genome.wustl.edu	37	7	26224213	26224213	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr7:26224213G>T	ENST00000056233.3	+	4	1154	c.895G>T	c.(895-897)Gca>Tca	p.A299S		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	299					transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A299S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GAATTCTTCAGCACATTATCA	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											135	129	131					7																	26224213		2203	4300	6503	26190738	SO:0001583	missense	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.895G>T	7.37:g.26224213G>T	ENSP00000056233:p.Ala299Ser		26190738	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213393	0.39102	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.32023	1.47	4.96	-1.73	0.08081	.	4.018370	0.00166	N	0.000007	T	0.22437	0.0541	L	0.34521	1.04	0.09310	N	1	B	0.19706	0.038	B	0.11329	0.006	T	0.13255	-1.0516	10	0.27785	T	0.31	-0.0205	5.5836	0.17262	0.4902:0.0:0.3254:0.1844	.	299	Q9Y4A8	NF2L3_HUMAN	S	299;5	ENSP00000056233:A299S	ENSP00000056233:A299S	A	+	1	0	NFE2L3	26190738	0.002000	0.14202	0.001000	0.08648	0.581000	0.36288	-0.196000	0.09532	-0.017000	0.14103	0.460000	0.39030	GCA		0.418	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			T	26224213	G	T	26224213	3	4	116	1	0	0	0	0	1	0	0	0	10369	971	34	3	909	3	NFE2L3	7	26224213	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	8156979	26224213	132914450	57	6282											
ABCA13	154664	genome.wustl.edu	37	7	48313812	48313812	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr7:48313812T>A	ENST00000435803.1	+	17	4573	c.4549T>A	c.(4549-4551)Tcc>Acc	p.S1517T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1517					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1462T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCATCTCAGTCCAATTGGAG	0.289																																																1	Substitution - Missense(1)	ovary(1)	7											32	33	33					7																	48313812		1817	4055	5872	48284358	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4549T>A	7.37:g.48313812T>A	ENSP00000411096:p.Ser1517Thr		48284358	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	2.543	-0.305901	0.05458	.	.	ENSG00000179869	ENST00000435803	D	0.86769	-2.17	5.03	1.15	0.20763	.	0.319686	0.22595	N	0.058036	T	0.80481	0.4631	M	0.64997	1.995	0.09310	N	1	B	0.18310	0.027	B	0.14023	0.01	T	0.65026	-0.6268	9	.	.	.	.	3.6277	0.08119	0.1606:0.1821:0.0:0.6572	.	1517	Q86UQ4	ABCAD_HUMAN	T	1517	ENSP00000411096:S1517T	.	S	+	1	0	ABCA13	48284358	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.692000	0.25482	0.016000	0.14998	-0.371000	0.07208	TCC		0.289	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48313812	T	A	48313812	3	1	116	1	0	0	0	0	1	0	0	0	31	1667	58	5	4444	5	ABCA13	7	48313812	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09	22089599	48313812	110824851	58	6283											
ZKSCAN1	7586	genome.wustl.edu	37	7	99627968	99627968	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr7:99627968C>G	ENST00000324306.6	+	5	1003	c.769C>G	c.(769-771)Cag>Gag	p.Q257E	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.Q44E|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.Q221E	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	257	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.Q257E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGACAACAGGCAGGAGAATTA	0.502																																																1	Substitution - Missense(1)	ovary(1)	7											119	101	107					7																	99627968		2203	4300	6503	99465904	SO:0001583	missense	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.769C>G	7.37:g.99627968C>G	ENSP00000323148:p.Gln257Glu		99465904	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866704	0.51588	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.01787	4.64;4.64;4.64	5.32	5.32	0.75619	Krueppel-associated box (4);	0.000000	0.51477	D	0.000083	T	0.05273	0.0140	M	0.66506	2.035	0.35131	D	0.767946	P	0.46784	0.884	P	0.51866	0.682	T	0.32268	-0.9913	10	0.34782	T	0.22	.	11.4239	0.49998	0.1798:0.8202:0.0:0.0	.	257	P17029	ZKSC1_HUMAN	E	257;221;44	ENSP00000323148:Q257E;ENSP00000409172:Q221E;ENSP00000443508:Q44E	ENSP00000323148:Q257E	Q	+	1	0	ZKSCAN1	99465904	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.096000	0.30976	2.767000	0.95098	0.655000	0.94253	CAG		0.502	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		G	99627968	C	G	99627968	3	3	116	1	0	0	0	0	1	0	0	0	17686	711	25	3	783	3	ZKSCAN1	7	99627968	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	51314156	99627968	59510695	59	6284											
SERPINE1	5054	genome.wustl.edu	37	7	100773786	100773786	+	Missense_Mutation	SNP	C	C	T	rs143027028		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr7:100773786C>T	ENST00000223095.4	+	3	513	c.356C>T	c.(355-357)gCg>gTg	p.A119V	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A104V	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	119					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A119V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ACCACAGACGCGATCTTCGTC	0.597													C|||	1	0.000199681	0	0.0014	5008	,	,		18580	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7						C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	191	174	180		356,311	5.4	1	7	dbSNP_134	180	0,8600		0,0,4300	yes	missense,missense	SERPINE1	NM_000602.3,NM_001165413.1	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	119/403,104/388	100773786	1,13005	2203	4300	6503	100560506	SO:0001583	missense	5054			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.356C>T	7.37:g.100773786C>T	ENSP00000223095:p.Ala119Val		100560506	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	CCDS5711.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.7	4.446365	0.84101	2.27E-4	0.0	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	D;D	0.84944	-1.92;-1.92	5.44	5.44	0.79542	Serpin domain (3);	0.124112	0.53938	D	0.000052	D	0.89663	0.6780	M	0.79614	2.46	0.39814	D	0.972749	D;D	0.89917	0.998;1.0	P;P	0.56514	0.585;0.8	D	0.90477	0.4457	10	0.51188	T	0.08	.	12.4802	0.55837	0.0:0.8317:0.1683:0.0	.	104;119	F8WD53;P05121	.;PAI1_HUMAN	V	119;104;104	ENSP00000223095:A119V;ENSP00000396766:A104V	ENSP00000223095:A119V	A	+	2	0	SERPINE1	100560506	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	2.215000	0.42862	2.553000	0.86117	0.561000	0.74099	GCG		0.597	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		T	100773786	C	T	100773786	3	4	116	1	0	0	0	0	1	0	0	0	14114	768	27	1	362	1	SERPINE1	7	100773786	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	1145818	100773786	58364877	60	6285											
ARMC10	83787	genome.wustl.edu	37	7	102738779	102738779	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr7:102738779C>T	ENST00000323716.3	+	7	1203	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	ARMC10_ENST00000425331.1_Missense_Mutation_p.H212Y|ARMC10_ENST00000541300.1_Missense_Mutation_p.H153Y|ARMC10_ENST00000428183.2_Missense_Mutation_p.H212Y|ARMC10_ENST00000441711.2_Missense_Mutation_p.H236Y|ARMC10_ENST00000454559.1_Missense_Mutation_p.H177Y	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	271					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.H271Y(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTATGACAGCCACGTAGCAAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	7											35	34	34					7																	102738779		2202	4299	6501	102526015	SO:0001583	missense	83787			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"Armadillo repeat containing"	21706	protein-coding gene	gene with protein product	"specific Splicing Variant involved in Hepatocarcinogenesis"	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.811C>T	7.37:g.102738779C>T	ENSP00000319412:p.His271Tyr		102526015	A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	ENST00000323716.3	37	CCDS5728.1	.	.	.	.	.	.	.	.	.	.	C	5.010	0.187567	0.09547	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000434153;ENST00000431642	T;T;T;T;T;T;T;T	0.48201	1.64;1.64;1.64;1.64;1.64;1.64;0.82;1.64	5.42	3.5	0.40072	Armadillo-like helical (1);Armadillo-type fold (1);	0.536654	0.21849	N	0.068201	T	0.47469	0.1447	L	0.46157	1.445	0.09310	N	1	B;P;P;D;P;P;P	0.59357	0.061;0.952;0.718;0.985;0.883;0.882;0.904	B;P;B;P;P;B;P	0.57620	0.038;0.453;0.251;0.824;0.767;0.43;0.558	T	0.32640	-0.9899	10	0.19590	T	0.45	-9.4756	5.4823	0.16731	0.1442:0.6331:0.1401:0.0825	.	212;153;177;199;212;236;271	B4DWJ8;F5GX65;Q8N2F6-4;C9J5N7;Q8N2F6-3;Q8N2F6-2;Q8N2F6	.;.;.;.;.;.;ARM10_HUMAN	Y	271;212;236;177;212;153;199;113	ENSP00000319412:H271Y;ENSP00000396654:H212Y;ENSP00000413619:H236Y;ENSP00000405612:H177Y;ENSP00000397969:H212Y;ENSP00000440463:H153Y;ENSP00000398201:H199Y;ENSP00000406840:H113Y	ENSP00000319412:H271Y	H	+	1	0	ARMC10	102526015	0.132000	0.22450	0.216000	0.23742	0.879000	0.50718	0.502000	0.22594	2.709000	0.92574	0.591000	0.81541	CAC		0.323	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		T	102738779	C	T	102738779	3	4	116	1	0	0	0	0	1	0	0	0	950	594	21	2	837	2	ARMC10	7	102738779	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	1964993	102738779	56399884	61	6286											
EXOC4	60412	genome.wustl.edu	37	7	132937874	132937874	+	Missense_Mutation	SNP	C	C	A	rs540463431		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr7:132937874C>A	ENST00000253861.4	+	1	46	c.17C>A	c.(16-18)gCt>gAt	p.A6D	EXOC4_ENST00000539845.1_5'Flank|EXOC4_ENST00000393161.2_Missense_Mutation_p.A6D	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	6					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.A6D(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCAGAAGCAGCTGGTGGGAAA	0.587																																																1	Substitution - Missense(1)	ovary(1)	7											79	81	80					7																	132937874		2203	4300	6503	132588414	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.17C>A	7.37:g.132937874C>A	ENSP00000253861:p.Ala6Asp		132588414	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032721	0.75504	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.84	5.84	0.93424	.	0.134374	0.49916	D	0.000137	T	0.58906	0.2155	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	T	0.62923	-0.6751	9	0.40728	T	0.16	.	17.7178	0.88342	0.0:1.0:0.0:0.0	.	6;6	Q96A65;Q8TAR2	EXOC4_HUMAN;.	D	6	.	ENSP00000253861:A6D	A	+	2	0	EXOC4	132588414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.756000	0.47549	2.937000	0.99478	0.650000	0.86243	GCT		0.587	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		A	132937874	C	A	132937874	3	1	116	1	0	0	0	0	1	0	0	0	5306	797	28	3	19	3	EXOC4	7	132937874	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	30199095	132937874	26200789	62	6287											
CHRNA2	1135	genome.wustl.edu	37	8	27327391	27327391	+	Missense_Mutation	SNP	G	G	A	rs142375828		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr8:27327391G>A	ENST00000520933.2	-	2	334	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R61W|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R61W			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	61					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.R61W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	TTGAAGAGCCGGTCCTCAGTC	0.637																																																1	Substitution - Missense(1)	ovary(1)	8						G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	71	73	72		181	4.8	1	8	dbSNP_134	72	0,8600		0,0,4300	yes	missense	CHRNA2	NM_000742.3	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	61/530	27327391	2,13004	2203	4300	6503	27383308	SO:0001583	missense	1135			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.181C>T	8.37:g.27327391G>A	ENSP00000429616:p.Arg61Trp		27383308	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281343	0.80692	4.54E-4	0.0	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132;ENST00000524096;ENST00000518712	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	4.77	4.77	0.60923	Neurotransmitter-gated ion-channel ligand-binding (3);	0.505114	0.24554	N	0.037524	D	0.85383	0.5684	H	0.96398	3.815	0.45930	D	0.998769	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89675	0.3886	10	0.87932	D	0	.	15.6641	0.77213	0.0:0.0:1.0:0.0	.	61;61	B4DK19;Q15822	.;ACHA2_HUMAN	W	61	ENSP00000385026:R61W;ENSP00000429616:R61W;ENSP00000240132:R61W;ENSP00000430422:R61W;ENSP00000430856:R61W	ENSP00000240132:R61W	R	-	1	2	CHRNA2	27383308	0.816000	0.29132	1.000000	0.80357	0.797000	0.45037	2.671000	0.46842	2.653000	0.90120	0.561000	0.74099	CGG		0.637	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			A	27327391	G	A	27327391	3	1	116	1	0	0	0	0	1	0	0	0	3383	1115	39	1	1428	1	CHRNA2	8	27327391	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09		27327391	119036631	63	6288											
TEX15	56154	genome.wustl.edu	37	8	30702387	30702387	+	Missense_Mutation	SNP	G	G	A	rs61732458	byFrequency	TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr8:30702387G>A	ENST00000256246.2	-	1	4221	c.4147C>T	c.(4147-4149)Ctt>Ttt	p.L1383F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1383					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.L1383F(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTCTTTAGAAGCTCTTTTTCT	0.398																																																1	Substitution - Missense(1)	ovary(1)	8											89	89	89					8																	30702387		2203	4300	6503	30821929	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4147C>T	8.37:g.30702387G>A	ENSP00000256246:p.Leu1383Phe		30821929		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579575	0.28180	.	.	ENSG00000133863	ENST00000256246	T	0.24538	1.85	5.7	-4.15	0.03881	.	1.043940	0.07551	N	0.915406	T	0.10895	0.0266	N	0.12182	0.205	0.09310	N	1	B	0.20671	0.047	B	0.22386	0.039	T	0.36016	-0.9765	10	0.87932	D	0	.	0.1604	0.00102	0.3217:0.2336:0.2066:0.2381	.	1383	Q9BXT5	TEX15_HUMAN	F	1383	ENSP00000256246:L1383F	ENSP00000256246:L1383F	L	-	1	0	TEX15	30821929	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.906000	0.04071	-0.191000	0.10448	-0.169000	0.13324	CTT		0.398	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			A	30702387	G	A	30702387	3	1	116	1	0	0	0	0	1	0	0	0	15779	971	34	2	4238	2	TEX15	8	30702387	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	3374996	30702387	115661635	64	6289											
CSPP1	79848	genome.wustl.edu	37	8	68007879	68007879	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr8:68007879G>T	ENST00000262210.5	+	6	893	c.862G>T	c.(862-864)Gat>Tat	p.D288Y	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	323					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.D288Y(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACCAGACCAAGATCCTGAAGT	0.368																																																1	Substitution - Missense(1)	ovary(1)	8											64	60	61					8																	68007879		1841	4084	5925	68170433	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.862G>T	8.37:g.68007879G>T	ENSP00000262210:p.Asp288Tyr		68170433	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300473	0.40694	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.76839	-1.05	5.87	4.99	0.66335	.	0.247806	0.17983	U	0.155470	T	0.75554	0.3865	L	0.53249	1.67	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.12837	0.004;0.008;0.008	T	0.71185	-0.4667	10	0.51188	T	0.08	-17.4369	16.5304	0.84355	0.0:0.0:0.8682:0.1318	.	288;323;323	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	Y	288;323	ENSP00000262210:D288Y	ENSP00000262210:D288Y	D	+	1	0	CSPP1	68170433	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	4.808000	0.62583	1.481000	0.48307	-0.158000	0.13435	GAT		0.368	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		T	68007879	G	T	68007879	3	4	116	1	0	0	0	0	1	0	0	0	3962	942	33	3	997	3	CSPP1	8	68007879	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	37305492	68007879	78356143	65	6290											
NOV	4856	genome.wustl.edu	37	8	120435162	120435162	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr8:120435162G>C	ENST00000259526.3	+	5	1091	c.864G>C	c.(862-864)aaG>aaC	p.K288N	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.K288N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			ACACCTACAAGCCCAGGTTCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	8											88	87	87					8																	120435162		2203	4300	6503	120504343	SO:0001583	missense	4856			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.864G>C	8.37:g.120435162G>C	ENSP00000259526:p.Lys288Asn		120504343		Missense_Mutation	SNP	ENST00000259526.3	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192062	0.58017	.	.	ENSG00000136999	ENST00000259526	T	0.18016	2.24	5.85	4.06	0.47325	Cystine knot (1);Cystine knot, C-terminal (2);	0.045665	0.85682	D	0.000000	T	0.34629	0.0904	M	0.76328	2.33	0.44500	D	0.997446	D	0.58268	0.982	P	0.59825	0.864	T	0.07309	-1.0779	10	0.87932	D	0	-25.3212	9.0578	0.36416	0.2768:0.0:0.7232:0.0	.	288	P48745	NOV_HUMAN	N	288	ENSP00000259526:K288N	ENSP00000259526:K288N	K	+	3	2	NOV	120504343	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	1.779000	0.38624	0.812000	0.34326	0.650000	0.86243	AAG		0.512	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		C	120435162	G	C	120435162	3	2	116	1	0	0	0	0	1	0	0	0	10553	962	34	3	882	3	NOV	8	120435162	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	52427283	120435162	25928860	66	6291											
BNC2	54796	genome.wustl.edu	37	9	16437047	16437047	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr9:16437047G>C	ENST00000380672.4	-	6	1202	c.1145C>G	c.(1144-1146)cCc>cGc	p.P382R	BNC2_ENST00000545497.1_Missense_Mutation_p.P287R|BNC2_ENST00000380667.2_Missense_Mutation_p.P315R|BNC2_ENST00000380666.2_Missense_Mutation_p.P382R	NM_017637.5	NP_060107.3			basonuclin 2									p.P382R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATTTCTATTGGGTGTTTGATC	0.483																																																1	Substitution - Missense(1)	ovary(1)	9											115	118	117					9																	16437047		2203	4300	6503	16427047	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1145C>G	9.37:g.16437047G>C	ENSP00000370047:p.Pro382Arg		16427047		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863603	0.32884	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.31769	1.48;1.5;1.51;1.51;1.48	5.96	5.96	0.96718	.	0.096199	0.64402	D	0.000001	T	0.33731	0.0873	L	0.29908	0.895	0.52501	D	0.99995	B;B;P;B;P;B;B;P;B	0.37015	0.002;0.232;0.571;0.058;0.571;0.232;0.435;0.578;0.435	B;B;B;B;B;B;B;B;B	0.42798	0.009;0.104;0.398;0.019;0.21;0.104;0.104;0.224;0.104	T	0.02625	-1.1132	10	0.45353	T	0.12	-17.2342	20.4082	0.99013	0.0:0.0:1.0:0.0	.	287;315;382;208;382;339;382;287;147	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	R	382;339;315;287;208;382;382	ENSP00000370047:P382R;ENSP00000408370:P339R;ENSP00000370042:P315R;ENSP00000444640:P287R;ENSP00000370041:P382R	ENSP00000370041:P382R	P	-	2	0	BNC2	16427047	1.000000	0.71417	0.996000	0.52242	0.655000	0.38815	9.734000	0.98822	2.814000	0.96858	0.655000	0.94253	CCC		0.483	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		C	16437047	G	C	16437047	3	2	116	1	0	0	0	0	1	0	0	0	1475	1232	43	3	2162	3	BNC2	9	16437047	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09		16437047	124776384	67	6292											
UBAP2	55833	genome.wustl.edu	37	9	33953309	33953309	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr9:33953309C>T	ENST00000379238.1	-	12	1147	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I	UBAP2_ENST00000539807.1_Missense_Mutation_p.V99I|SNORD121A_ENST00000459386.1_RNA|UBAP2_ENST00000379239.4_Missense_Mutation_p.V77I|UBAP2_ENST00000449054.1_Missense_Mutation_p.V344I|UBAP2_ENST00000360802.1_Missense_Mutation_p.V344I|UBAP2_ENST00000418786.2_Missense_Mutation_p.V291I					ubiquitin associated protein 2									p.V344I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CAGGAGTTGACGGCAGTGGAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	9											66	69	68					9																	33953309		2203	4300	6503	33943309	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1030G>A	9.37:g.33953309C>T	ENSP00000368540:p.Val344Ile		33943309		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719499	0.30503	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T;T	0.30714	2.73;2.73;2.73;2.51;2.53;2.22;1.52	5.85	2.98	0.34508	.	0.463892	0.26268	N	0.025350	T	0.23492	0.0568	L	0.57536	1.79	0.27867	N	0.940199	B;P;B;B;B;P;P	0.49090	0.196;0.919;0.03;0.03;0.03;0.868;0.787	B;B;B;B;B;B;B	0.35278	0.019;0.199;0.007;0.007;0.007;0.098;0.099	T	0.12915	-1.0529	10	0.33940	T	0.23	-0.1017	9.2243	0.37395	0.0:0.7476:0.1208:0.1316	.	291;269;99;77;253;269;344	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;.;UBAP2_HUMAN	I	344;344;344;253;262;77;99;291;291;198	ENSP00000368540:V344I;ENSP00000416932:V344I;ENSP00000354039:V344I;ENSP00000368541:V77I;ENSP00000439329:V99I;ENSP00000404436:V291I;ENSP00000414800:V291I	ENSP00000354039:V344I	V	-	1	0	UBAP2	33943309	1.000000	0.71417	0.391000	0.26233	0.005000	0.04900	1.775000	0.38584	0.365000	0.24400	-0.422000	0.05995	GTC		0.443	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		T	33953309	C	T	33953309	3	4	116	1	0	0	0	0	1	0	0	0	16837	536	19	1	2401	1	UBAP2	9	33953309	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	17516262	33953309	107260122	68	6293											
SPTAN1	6709	genome.wustl.edu	37	9	131349970	131349970	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr9:131349970delC	ENST00000372731.4	+	20	2974	c.2864delC	c.(2863-2865)tccfs	p.S955fs	SPTAN1_ENST00000372739.3_Frame_Shift_Del_p.S955fs|SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.S955fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	955					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.C956fs*33(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAAGCACAGTCCTGCCGGGTA	0.493																																					NSCLC(120;833 1744 2558 35612 37579)											1	Deletion - Frameshift(1)	ovary(1)	9											90	77	81					9																	131349970		2203	4300	6503	130389791	SO:0001589	frameshift_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2864delC	9.37:g.131349970delC	ENSP00000361816:p.Ser955fs		130389791	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Del	DEL	ENST00000372731.4	37	CCDS6905.1																																																																																				0.493	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		-	131349970	C	-	131349970	7	5	116	1	0	1	0	1	0	0	0	0	15119	855	30	0	2938	0	SPTAN1	9	131349970	Frame_Shift_Del	DEL	C	TCGA-13-0920-01A-01W-0421-09	97396661	131349970	9863461	69	6294											
GBF1	8729	genome.wustl.edu	37	10	104111614	104111614	+	Silent	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr10:104111614G>C	ENST00000369983.3	+	6	689	c.429G>C	c.(427-429)ctG>ctC	p.L143L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	143					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L143L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TACGGACTCTGCTGCTAACCC	0.468											OREG0020477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	10											172	144	153					10																	104111614		2203	4300	6503	104101604	SO:0001819	synonymous_variant	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.429G>C	10.37:g.104111614G>C		1379	104101604	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	CCDS7533.1																																																																																				0.468	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			C	104111614	G	C	104111614	2	2	116	1	0	0	0	0	0	0	0	1	6271	1306	46	3		3	GBF1	10	104111614	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09		104111614	31423133	70	6295											
TACC2	10579	genome.wustl.edu	37	10	123843238	123843238	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr10:123843238C>T	ENST00000369005.1	+	4	1563	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	TACC2_ENST00000453444.2_Missense_Mutation_p.S408F|TACC2_ENST00000515603.1_Missense_Mutation_p.S408F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S408F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S408F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	408					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.S408F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTGAACCTTCCCTGCTCACT	0.567																																																1	Substitution - Missense(1)	ovary(1)	10											64	64	64					10																	123843238		2203	4300	6503	123833228	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1223C>T	10.37:g.123843238C>T	ENSP00000358001:p.Ser408Phe		123833228	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986214	0.35036	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03772	3.85;3.82;3.81;3.85;3.82	4.75	0.728	0.18260	.	0.578855	0.13233	N	0.403457	T	0.03477	0.0100	L	0.27053	0.805	0.09310	N	1	B;B;B	0.18310	0.027;0.027;0.01	B;B;B	0.13407	0.009;0.005;0.005	T	0.40869	-0.9540	10	0.87932	D	0	0.1246	3.7473	0.08552	0.0:0.5061:0.1856:0.3083	.	408;408;408	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	F	408;408;408;408;408;398	ENSP00000358001:S408F;ENSP00000424467:S408F;ENSP00000427618:S408F;ENSP00000334280:S408F;ENSP00000395048:S408F	ENSP00000334280:S408F	S	+	2	0	TACC2	123833228	0.005000	0.15991	0.001000	0.08648	0.024000	0.10985	0.273000	0.18662	0.080000	0.16959	0.561000	0.74099	TCC		0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123843238	C	T	123843238	3	4	116	1	0	0	0	0	1	0	0	0	15502	855	30	2	1233	2	TACC2	10	123843238	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	19731624	123843238	11691509	71	6296											
DHX32	55760	genome.wustl.edu	37	10	127526957	127526957	+	Splice_Site	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr10:127526957C>G	ENST00000284690.3	-	10	2372		c.e10-1		BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Splice_Site|DHX32_ENST00000368721.1_Splice_Site|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32							mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCCGAGCAATCTGAAAGGCAG	0.353																																																0			10											84	80	81					10																	127526957		2203	4300	6503	127516947	SO:0001630	splice_region_variant	55760				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1882-1G>C	10.37:g.127526957C>G			127516947	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Splice_Site	SNP	ENST00000284690.3	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865848	0.71949	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1793	0.86850	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX32	127516947	1.000000	0.71417	0.949000	0.38748	0.834000	0.47266	7.596000	0.82721	2.281000	0.76405	0.561000	0.74099	.		0.353	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	Intron	G	127526957	C	G	127526957	5	3	116	1	0	0	0	0	0	0	1	0	4505	927	32	3	358	3	DHX32	10	127526957	Splice_Site	SNP	C	TCGA-13-0920-01A-01W-0421-09	3683719	127526957	8007790	72	6297											
GYLTL1B	120071	genome.wustl.edu	37	11	45948276	45948276	+	Silent	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr11:45948276G>A	ENST00000531526.1	+	10	1290	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	GYLTL1B_ENST00000401752.1_Silent_p.L393L|GYLTL1B_ENST00000536139.1_Silent_p.L362L|GYLTL1B_ENST00000325468.5_Silent_p.L393L|GYLTL1B_ENST00000529052.1_Silent_p.L362L|GYLTL1B_ENST00000389968.3_Silent_p.L120L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	393					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L393L(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)		AGCAGGCCCTGGCACAACTGG	0.617																																																1	Substitution - coding silent(1)	ovary(1)	11											78	76	77					11																	45948276		2203	4299	6502	45904852	SO:0001819	synonymous_variant	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.1179G>A	11.37:g.45948276G>A			45904852	A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Silent	SNP	ENST00000531526.1	37	CCDS31473.1																																																																																				0.617	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		A	45948276	G	A	45948276	2	1	116	1	0	0	0	0	0	0	0	1	6907	1335	47	2		2	GYLTL1B	11	45948276	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09		45948276	89058240	73	6298											
OR5I1	10798	genome.wustl.edu	37	11	55703700	55703700	+	Silent	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr11:55703700G>A	ENST00000301532.3	-	1	176	c.177C>T	c.(175-177)acC>acT	p.T59T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	59					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T59T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AATACATGGGGGTTTGAAGGT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	11											63	63	63					11																	55703700		2199	4296	6495	55460276	SO:0001819	synonymous_variant	10798			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.177C>T	11.37:g.55703700G>A			55460276	Q6IEU4	Silent	SNP	ENST00000301532.3	37	CCDS7949.1																																																																																				0.388	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		A	55703700	G	A	55703700	2	1	116	1	0	0	0	0	0	0	0	1	11164	1219	43	2		2	OR5I1	11	55703700	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09	9755424	55703700	79302816	74	6299											
OR10AG1	282770	genome.wustl.edu	37	11	55735358	55735358	+	Silent	SNP	C	C	T	rs556408380		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr11:55735358C>T	ENST00000312345.2	-	1	632	c.582G>A	c.(580-582)gcG>gcA	p.A194A		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A194A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TAAACACCACCGCTACTACAT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	11											86	85	85					11																	55735358		2201	4296	6497	55491934	SO:0001819	synonymous_variant	282770			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.582G>A	11.37:g.55735358C>T			55491934	B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	CCDS31514.1																																																																																				0.383	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		T	55735358	C	T	55735358	2	4	116	1	0	0	0	0	0	0	0	1	10897	639	23	1		1	OR10AG1	11	55735358	Silent	SNP	C	TCGA-13-0920-01A-01W-0421-09	31658	55735358	79271158	75	6300											
AHNAK	79026	genome.wustl.edu	37	11	62285127	62285127	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr11:62285127A>C	ENST00000378024.4	-	5	17036	c.16762T>G	c.(16762-16764)Ttg>Gtg	p.L5588V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5588	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.L5588V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAACACTCAAATGCCCTTCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											146	161	156					11																	62285127		2202	4299	6501	62041703	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16762T>G	11.37:g.62285127A>C	ENSP00000367263:p.Leu5588Val		62041703	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.764286	0.00005	.	.	ENSG00000124942	ENST00000378024	T	0.01933	4.55	4.57	-9.15	0.00698	.	0.663225	0.12877	N	0.431764	T	0.00845	0.0028	N	0.05414	-0.055	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44097	-0.9350	10	0.02654	T	1	.	5.6908	0.17829	0.1415:0.5203:0.2121:0.126	.	5588	Q09666	AHNK_HUMAN	V	5588	ENSP00000367263:L5588V	ENSP00000367263:L5588V	L	-	1	2	AHNAK	62041703	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-6.395000	0.00068	-4.988000	0.00025	-1.774000	0.00658	TTG		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62285127	A	C	62285127	3	2	116	1	0	0	0	0	1	0	0	0	414	11	1	5	1030	5	AHNAK	11	62285127	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09	6549769	62285127	72721389	76	6301											
SF3B2	10992	genome.wustl.edu	37	11	65829174	65829174	+	Silent	SNP	A	A	G	rs373128677	byFrequency	TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr11:65829174A>G	ENST00000322535.6	+	15	1846	c.1797A>G	c.(1795-1797)acA>acG	p.T599T	SF3B2_ENST00000528302.1_Silent_p.T582T	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	599					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.T599T(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGTTCGAGACACGACTGAAGG	0.498													A|||	23	0.00459265	0	0	5008	,	,		21429	0		0	False		,,,				2504	0.0235															1	Substitution - coding silent(1)	ovary(1)	11											124	120	122					11																	65829174		2201	4295	6496	65585750	SO:0001819	synonymous_variant	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1797A>G	11.37:g.65829174A>G			65585750	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	A	8.049	0.765479	0.15914	.	.	ENSG00000087365	ENST00000530981	.	.	.	5.63	-11.3	0.00108	.	.	.	.	.	T	0.33904	0.0879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43925	-0.9361	4	.	.	.	-21.166	3.6098	0.08055	0.1166:0.2151:0.4317:0.2367	.	.	.	.	R	20	.	.	H	+	2	0	SF3B2	65585750	0.003000	0.15002	0.184000	0.23157	0.950000	0.60333	-1.340000	0.02650	-2.787000	0.00358	-0.924000	0.02725	CAC		0.498	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			G	65829174	A	G	65829174	2	3	116	1	0	0	0	0	0	0	0	1	14154	146	6	4		4	SF3B2	11	65829174	Silent	SNP	A	TCGA-13-0920-01A-01W-0421-09	3544047	65829174	69177342	77	6302											
DLAT	1737	genome.wustl.edu	37	11	111899569	111899569	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr11:111899569C>G	ENST00000280346.6	+	4	1219	c.560C>G	c.(559-561)cCt>cGt	p.P187R	DLAT_ENST00000393051.1_Missense_Mutation_p.P187R|DLAT_ENST00000537636.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	187					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.P187R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TCAGCAGCACCTACCCCACAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											88	95	93					11																	111899569		2201	4297	6498	111404779	SO:0001583	missense	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.560C>G	11.37:g.111899569C>G	ENSP00000280346:p.Pro187Arg		111404779	Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420879	0.25639	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.18502	2.21;2.25	5.02	5.02	0.67125	Single hybrid motif (1);	0.225652	0.46442	D	0.000300	T	0.19167	0.0460	L	0.36672	1.1	0.80722	D	1	P;B	0.46706	0.883;0.003	B;B	0.44044	0.439;0.004	T	0.00872	-1.1532	10	0.54805	T	0.06	-2.8829	16.7013	0.85349	0.0:1.0:0.0:0.0	.	187;187	E9PEJ4;P10515	.;ODP2_HUMAN	R	187;155;187	ENSP00000280346:P187R;ENSP00000376771:P187R	ENSP00000280346:P187R	P	+	2	0	DLAT	111404779	0.111000	0.22076	0.819000	0.32651	0.146000	0.21551	4.245000	0.58734	2.607000	0.88179	0.585000	0.79938	CCT		0.507	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		G	111899569	C	G	111899569	3	3	116	1	0	0	0	0	1	0	0	0	4549	681	24	3	574	3	DLAT	11	111899569	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	46070395	111899569	23106947	78	6303											
LRP6	4040	genome.wustl.edu	37	12	12274064	12274064	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr12:12274064G>T	ENST00000261349.4	-	23	4914	c.4838C>A	c.(4837-4839)tCc>tAc	p.S1613Y	LRP6_ENST00000543091.1_Missense_Mutation_p.S1568Y|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1613					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S1613Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCCTCCTCAGGAGGAGTCTGT	0.517																																																1	Substitution - Missense(1)	ovary(1)	12											72	61	65					12																	12274064		2203	4300	6503	12165331	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4838C>A	12.37:g.12274064G>T	ENSP00000261349:p.Ser1613Tyr		12165331	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455944	0.84209	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95272	-3.42;-3.66	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000011	D	0.96383	0.8820	L	0.46157	1.445	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.80764	0.994;0.986	D	0.96515	0.9381	10	0.87932	D	0	.	20.1576	0.98120	0.0:0.0:1.0:0.0	.	1568;1613	F5H7J9;O75581	.;LRP6_HUMAN	Y	1613;1568	ENSP00000261349:S1613Y;ENSP00000442472:S1568Y	ENSP00000261349:S1613Y	S	-	2	0	LRP6	12165331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.773000	0.95371	0.650000	0.86243	TCC		0.517	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			T	12274064	G	T	12274064	3	4	116	1	0	0	0	0	1	0	0	0	8962	1174	41	3	7	3	LRP6	12	12274064	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09		12274064	121577831	79	6304											
ITGA5	3678	genome.wustl.edu	37	12	54795449	54795449	+	Splice_Site	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr12:54795449G>C	ENST00000293379.4	-	23	2568	c.2307C>G	c.(2305-2307)agC>agG	p.S769R	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	769					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.S769R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGAGATTCTTGCTGTGGGATG	0.607																																																1	Substitution - Missense(1)	ovary(1)	12											153	125	134					12																	54795449		2203	4300	6503	53081716	SO:0001630	splice_region_variant	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2307-1C>G	12.37:g.54795449G>C			53081716	Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845866	0.71603	.	.	ENSG00000161638	ENST00000293379	T	0.62639	0.01	4.92	2.67	0.31697	Integrin alpha-2 (1);	0.039496	0.85682	D	0.000000	T	0.76205	0.3955	M	0.84433	2.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.76168	-0.3058	10	0.87932	D	0	.	5.4062	0.16323	0.2891:0.0:0.7109:0.0	.	769	P08648	ITA5_HUMAN	R	769	ENSP00000293379:S769R	ENSP00000293379:S769R	S	-	3	2	ITGA5	53081716	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.466000	0.35310	1.189000	0.43028	0.563000	0.77884	AGC		0.607	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		Missense_Mutation	C	54795449	G	C	54795449	5	2	116	1	0	0	0	0	0	0	1	0	7879	1333	46	3	874	3	ITGA5	12	54795449	Splice_Site	SNP	G	TCGA-13-0920-01A-01W-0421-09	42521385	54795449	79056446	80	6305											
NAB2	4665	genome.wustl.edu	37	12	57485519	57485519	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr12:57485519G>A	ENST00000300131.3	+	2	1073	c.695G>A	c.(694-696)gGt>gAt	p.G232D	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.G232D|NAB2_ENST00000357680.4_Missense_Mutation_p.G232D	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	232					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.G232D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGACTGGGGGTGGTCCAGAC	0.672																																																1	Substitution - Missense(1)	ovary(1)	12											53	61	58					12																	57485519		2203	4300	6503	55771786	SO:0001583	missense	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.695G>A	12.37:g.57485519G>A	ENSP00000300131:p.Gly232Asp		55771786	B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278922	0.23307	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.26	3.35	0.38373	NAB co-repressor, domain (1);	0.096080	0.46758	D	0.000280	T	0.36386	0.0965	L	0.34521	1.04	0.35663	D	0.812676	B	0.21905	0.062	B	0.21151	0.033	T	0.32587	-0.9901	9	0.14252	T	0.57	-0.4771	9.1974	0.37237	0.0:0.0:0.7833:0.2167	.	232	Q15742	NAB2_HUMAN	D	232	.	ENSP00000300131:G232D	G	+	2	0	NAB2	55771786	0.949000	0.32298	0.697000	0.30258	0.373000	0.29922	-0.518000	0.06267	0.971000	0.38288	0.462000	0.41574	GGT		0.672	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		A	57485519	G	A	57485519	3	1	116	1	0	0	0	0	1	0	0	0	10132	1261	44	2	701	2	NAB2	12	57485519	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	2690070	57485519	76366376	81	6306											
HCFC2	29915	genome.wustl.edu	37	12	104487252	104487252	+	Missense_Mutation	SNP	C	C	T	rs574023442		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr12:104487252C>T	ENST00000229330.4	+	10	1477	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	458					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.T458M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGCACTGACGGATTCTAAT	0.338													c|||	1	0.000199681	0	0.0014	5008	,	,		15291	0		0	False		,,,				2504	0				Esophageal Squamous(184;1814 2036 4771 6974 15702)											1	Substitution - Missense(1)	ovary(1)	12											97	90	93					12																	104487252		2203	4299	6502	103011382	SO:0001583	missense	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1373C>T	12.37:g.104487252C>T	ENSP00000229330:p.Thr458Met		103011382	B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	c	8.752	0.921577	0.17982	.	.	ENSG00000111727	ENST00000229330	T	0.01787	4.64	5.49	-4.58	0.03410	Fibronectin, type III (2);	1.368680	0.04334	N	0.352812	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.49163	-0.8968	10	0.44086	T	0.13	0.0781	8.2866	0.31932	0.0:0.2986:0.1172:0.5842	.	458	Q9Y5Z7	HCFC2_HUMAN	M	458	ENSP00000229330:T458M	ENSP00000229330:T458M	T	+	2	0	HCFC2	103011382	0.000000	0.05858	0.021000	0.16686	0.586000	0.36452	-1.103000	0.03329	-0.768000	0.04626	-0.876000	0.02978	ACG		0.338	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		T	104487252	C	T	104487252	3	4	116	1	0	0	0	0	1	0	0	0	6993	536	19	1	1411	1	HCFC2	12	104487252	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	47001733	104487252	29364643	82	6307											
MYH7	4625	genome.wustl.edu	37	14	23887512	23887512	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr14:23887512C>T	ENST00000355349.3	-	30	4238	c.4076G>A	c.(4075-4077)cGc>cAc	p.R1359H	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1359				RV -> GD (in Ref. 14; CAA27381). {ECO:0000305}.	adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R1359H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGAAAGGACGCGCTGCAGCTC	0.647																																																1	Substitution - Missense(1)	ovary(1)	14											72	66	68					14																	23887512		2203	4300	6503	22957352	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4076G>A	14.37:g.23887512C>T	ENSP00000347507:p.Arg1359His		22957352	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579211	0.86645	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.81579	-1.51	4.83	4.83	0.62350	Myosin tail (1);	.	.	.	.	D	0.92234	0.7537	M	0.93978	3.48	0.80722	D	1	D	0.65815	0.995	D	0.70935	0.971	D	0.94200	0.7449	9	0.87932	D	0	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	1359	P12883	MYH7_HUMAN	H	1359;1364	ENSP00000347507:R1359H	ENSP00000347507:R1359H	R	-	2	0	MYH7	22957352	1.000000	0.71417	0.972000	0.41901	0.447000	0.32167	7.375000	0.79646	2.520000	0.84964	0.655000	0.94253	CGC		0.647	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23887512	C	T	23887512	3	4	116	1	0	0	0	0	1	0	0	0	10039	768	27	1	1775	1	MYH7	14	23887512	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09		23887512	83462028	83	6308											
C14orf149	112849	genome.wustl.edu	37	14	59945959	59945959	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr14:59945959C>G	ENST00000247194.4	-	2	732	c.619G>C	c.(619-621)Gca>Cca	p.A207P	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A36P|RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	207					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)	p.A207P(1)								L-Proline(DB00172)	CTGGTCTTTGCAGAACAAATG	0.463																																																1	Substitution - Missense(1)	ovary(1)	14											125	114	118					14																	59945959		2203	4300	6503	59015712	SO:0001583	missense	112849			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.619G>C	14.37:g.59945959C>G	ENSP00000247194:p.Ala207Pro		59015712	Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704898	0.68615	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.19394	2.15;2.15;2.15	5.56	2.4	0.29515	.	0.108906	0.64402	D	0.000004	T	0.20700	0.0498	M	0.67700	2.07	0.39172	D	0.962606	B	0.14805	0.011	B	0.19391	0.025	T	0.05500	-1.0881	10	0.33141	T	0.24	.	7.4934	0.27475	0.5413:0.3717:0.0:0.087	.	207	Q96EM0	PRCM_HUMAN	P	207;36;36	ENSP00000247194:A207P;ENSP00000431608:A36P;ENSP00000423874:A36P	ENSP00000247194:A207P	A	-	1	0	C14orf149	59015712	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.473000	0.53122	0.681000	0.31386	0.467000	0.42956	GCA		0.463	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		G	59945959	C	G	59945959	3	3	116	1	0	0	0	0	1	0	0	0	1752	710	25	3	461	3	C14orf149	14	59945959	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	36058447	59945959	47403581	84	6309											
FLRT2	23768	genome.wustl.edu	37	14	86089685	86089685	+	Silent	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr14:86089685C>T	ENST00000330753.4	+	2	2594	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	FLRT2_ENST00000554746.1_Silent_p.I609I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	609					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.I609I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTTTTCAGATCGTCTCCTTAA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	14											126	134	131					14																	86089685		2203	4300	6503	85159438	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1827C>T	14.37:g.86089685C>T			85159438	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.473	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			T	86089685	C	T	86089685	2	4	116	1	0	0	0	0	0	0	0	1	5939	874	31	1		1	FLRT2	14	86089685	Silent	SNP	C	TCGA-13-0920-01A-01W-0421-09	26143726	86089685	21259855	85	6310											
CCDC33	1583	genome.wustl.edu	37	15	74627439	74627439	+	IGR	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr15:74627439C>A	ENST00000268053.6	-	0	1934				CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000558821.1_Missense_Mutation_p.P310T|CCDC33_ENST00000268082.4_Missense_Mutation_p.P344T|CCDC33_ENST00000321288.5_Intron	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TGTGAGTGACCCCCCTGGAGT	0.587																																					Esophageal Squamous(87;818 1337 4093 9268 37314)											1	Unknown(1)	ovary(1)	15											97	105	103					15																	74627439		1898	4130	6028	72414492	SO:0001628	intergenic_variant	80125			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74627439C>A			72414492	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341530	0.41498	.	.	ENSG00000140481	ENST00000321374;ENST00000268082	T;T	0.23754	1.9;1.89	5.07	0.69	0.18039	.	.	.	.	.	T	0.13030	0.0316	.	.	.	0.09310	N	1	B;B	0.32829	0.386;0.386	B;B	0.31101	0.124;0.124	T	0.23940	-1.0174	7	.	.	.	.	3.384	0.07265	0.1586:0.3722:0.373:0.0962	.	310;344	Q8N5R6-4;Q8N5R6-5	.;.	T	310;344	ENSP00000325661:P310T;ENSP00000268082:P344T	.	P	+	1	0	CCDC33	72414492	0.000000	0.05858	0.035000	0.18076	0.126000	0.20510	0.033000	0.13754	0.151000	0.19162	0.478000	0.44815	CCC		0.587	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			A	74627439	C	A	74627439	1	1	116	0	1	0	0	0	0	0	0	0	2806	623	22	3		3	CCDC33	15	74627439	IGR	SNP	C	TCGA-13-0920-01A-01W-0421-09		74627439	27903953	86	6311											
CYP1A1	1543	genome.wustl.edu	37	15	75012850	75012850	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr15:75012850G>T	ENST00000379727.3	-	7	1717	c.1519C>A	c.(1519-1521)Caa>Aaa	p.Q507K	CYP1A1_ENST00000395048.2_Missense_Mutation_p.Q507K|CYP1A1_ENST00000395049.4_Missense_Mutation_p.Q478K|CYP1A1_ENST00000567032.1_Missense_Mutation_p.Q507K			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	507					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.Q507K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AGCTGCATTTGGAAGTGCTCA	0.587									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																							1	Substitution - Missense(1)	ovary(1)	15											103	93	96					15																	75012850		2197	4296	6493	72799903	SO:0001583	missense	1543	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1519C>A	15.37:g.75012850G>T	ENSP00000369050:p.Gln507Lys		72799903	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866806	0.51588	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.69561	-0.41;-0.41;-0.27	5.65	5.65	0.86999	.	0.435408	0.25744	N	0.028590	T	0.81113	0.4755	M	0.77313	2.365	0.34197	D	0.672789	D;D	0.69078	0.997;0.995	D;D	0.83275	0.996;0.986	D	0.84831	0.0802	10	0.36615	T	0.2	.	14.5482	0.68047	0.0:0.0:0.8537:0.1463	.	478;507	E7EMT5;P04798	.;CP1A1_HUMAN	K	507;507;478;479	ENSP00000369050:Q507K;ENSP00000378488:Q507K;ENSP00000378489:Q478K	ENSP00000268062:Q479K	Q	-	1	0	CYP1A1	72799903	1.000000	0.71417	0.980000	0.43619	0.294000	0.27393	3.793000	0.55484	2.668000	0.90789	0.655000	0.94253	CAA		0.587	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		T	75012850	G	T	75012850	3	4	116	1	0	0	0	0	1	0	0	0	4149	1357	47	3	23	3	CYP1A1	15	75012850	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	385411	75012850	27518542	87	6312											
ZSCAN2	54993	genome.wustl.edu	37	15	85163858	85163858	+	Silent	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr15:85163858G>C	ENST00000448803.2	+	3	724	c.432G>C	c.(430-432)ggG>ggC	p.G144G	ZSCAN2_ENST00000546148.1_Silent_p.G144G|ZSCAN2_ENST00000358472.3_5'UTR|ZSCAN2_ENST00000538076.1_Silent_p.G144G|ZSCAN2_ENST00000327179.6_Silent_p.G143G|ZSCAN2_ENST00000541040.1_Silent_p.G144G|ZSCAN2_ENST00000485222.2_Silent_p.G144G	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	144					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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.G144G(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GTGAAAATGGGGAGAACTGTA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	15											102	113	110					15																	85163858		2203	4299	6502	82964862	SO:0001819	synonymous_variant	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.432G>C	15.37:g.85163858G>C			82964862	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	8.918	0.960273	0.18507	.	.	ENSG00000176371	ENST00000540936	T	0.35421	1.31	4.68	2.63	0.31362	.	0.462768	0.20023	N	0.100864	T	0.45276	0.1334	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45160	-0.9280	7	0.87932	D	0	-18.0137	8.3087	0.32058	0.2145:0.0:0.7855:0.0	.	.	.	.	A	100	ENSP00000446041:G100A	ENSP00000446041:G100A	G	+	2	0	ZSCAN2	82964862	0.518000	0.26234	1.000000	0.80357	0.990000	0.78478	0.630000	0.24553	1.175000	0.42826	0.655000	0.94253	GGG		0.398	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		C	85163858	G	C	85163858	2	2	116	1	0	0	0	0	0	0	0	1	18231	1219	43	3		3	ZSCAN2	15	85163858	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09	10151008	85163858	17367534	88	6313											
SEZ6L2	26470	genome.wustl.edu	37	16	29909243	29909243	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr16:29909243A>T	ENST00000308713.5	-	2	669	c.142T>A	c.(142-144)Tct>Act	p.S48T	SEZ6L2_ENST00000562159.1_5'UTR|ASPHD1_ENST00000483405.1_5'Flank|ASPHD1_ENST00000308748.5_5'Flank|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.S48T|SEZ6L2_ENST00000537485.1_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S48T	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	48	O-glycosylated at one site.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.S48T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGGCCTCAGAGGCCACCGTG	0.627																																																1	Substitution - Missense(1)	ovary(1)	16											53	55	54					16																	29909243		2197	4300	6497	29816744	SO:0001583	missense	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.142T>A	16.37:g.29909243A>T	ENSP00000312550:p.Ser48Thr		29816744	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472353	0.26423	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932	T;T;T	0.33654	1.4;1.4;1.4	4.96	-0.683	0.11335	.	0.431258	0.19803	N	0.105713	T	0.12178	0.0296	N	0.08118	0	0.36274	D	0.855332	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001	T	0.20405	-1.0276	10	0.09590	T	0.72	.	2.9286	0.05792	0.4628:0.0:0.2236:0.3135	.	48;48;48;48;48	B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	T	48	ENSP00000310206:S48T;ENSP00000312550:S48T;ENSP00000319215:S48T	ENSP00000312550:S48T	S	-	1	0	SEZ6L2	29816744	0.999000	0.42202	0.873000	0.34254	0.887000	0.51463	0.542000	0.23222	-0.092000	0.12417	0.379000	0.24179	TCT		0.627	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		T	29909243	A	T	29909243	3	4	116	1	0	0	0	0	1	0	0	0	14147	304	11	5	2697	5	SEZ6L2	16	29909243	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09		29909243	60445510	89	6314											
C16orf58	64755	genome.wustl.edu	37	16	31505097	31505097	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr16:31505097C>T	ENST00000327237.2	-	8	824	c.785G>A	c.(784-786)gGa>gAa	p.G262E	C16orf58_ENST00000570164.1_Missense_Mutation_p.G260E|C16orf58_ENST00000567994.1_Missense_Mutation_p.G217E|C16orf58_ENST00000430477.2_Missense_Mutation_p.G120E			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	262						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G262E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GAAGAAACATCCAAGGCTGAA	0.627																																																1	Substitution - Missense(1)	ovary(1)	16											95	87	90					16																	31505097		2197	4300	6497	31412598	SO:0001583	missense	64755			AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.785G>A	16.37:g.31505097C>T	ENSP00000317579:p.Gly262Glu		31412598	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	C	6.103	0.387277	0.11581	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000430477	T;T	0.41758	0.99;0.99	5.39	4.41	0.53225	.	0.543263	0.21267	N	0.077386	T	0.27663	0.0680	N	0.25485	0.75	0.09310	N	1	B;B	0.14438	0.007;0.01	B;B	0.19666	0.026;0.026	T	0.11108	-1.0601	10	0.13853	T	0.58	-24.7475	10.6402	0.45588	0.0:0.7485:0.2515:0.0	.	120;262	B4DJP2;Q96GQ5	.;CP058_HUMAN	E	262;216;120	ENSP00000317579:G262E;ENSP00000398074:G120E	ENSP00000317579:G262E	G	-	2	0	C16orf58	31412598	0.000000	0.05858	0.278000	0.24718	0.929000	0.56500	1.035000	0.30216	2.517000	0.84864	0.563000	0.77884	GGA		0.627	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		T	31505097	C	T	31505097	3	4	116	1	0	0	0	0	1	0	0	0	1822	855	30	2	645	2	C16orf58	16	31505097	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	1595854	31505097	58849656	90	6315											
CDH8	1006	genome.wustl.edu	37	16	62055265	62055265	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr16:62055265G>T	ENST00000577390.1	-	2	997	c.43C>A	c.(43-45)Cca>Aca	p.P15T	CDH8_ENST00000299345.6_Missense_Mutation_p.P15T|CDH8_ENST00000577730.1_Missense_Mutation_p.P15T|CDH8_ENST00000584337.1_Missense_Mutation_p.P15T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	15					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.P15T(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTATTAATGGAGTCCAGAGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	16											66	69	68					16																	62055265		2203	4300	6503	60612766	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.43C>A	16.37:g.62055265G>T	ENSP00000462701:p.Pro15Thr		60612766	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407942	0.62399	.	.	ENSG00000150394	ENST00000299345	T	0.54071	0.59	6.17	6.17	0.99709	.	0.171574	0.52532	D	0.000061	T	0.48466	0.1501	L	0.51422	1.61	0.38690	D	0.952738	B	0.34103	0.437	B	0.27380	0.079	T	0.43972	-0.9358	10	0.22706	T	0.39	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	15	P55286	CADH8_HUMAN	T	15	ENSP00000299345:P15T	ENSP00000299345:P15T	P	-	1	0	CDH8	60612766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.469000	0.66749	2.941000	0.99782	0.655000	0.94253	CCA		0.418	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		T	62055265	G	T	62055265	3	4	116	1	0	0	0	0	1	0	0	0	3116	1174	41	3	2400	3	CDH8	16	62055265	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	30550168	62055265	28299488	91	6316											
IRF8	3394	genome.wustl.edu	37	16	85945260	85945260	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr16:85945260A>G	ENST00000268638.5	+	4	865	c.443A>G	c.(442-444)aAg>aGg	p.K148R	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	148					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.K148R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GAGCTGATCAAGGAGGTAAGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	16											98	85	89					16																	85945260		2198	4300	6498	84502761	SO:0001583	missense	3394			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.443A>G	16.37:g.85945260A>G	ENSP00000268638:p.Lys148Arg		84502761	A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.932726	0.34096	.	.	ENSG00000140968	ENST00000268638	D	0.97089	-4.24	4.96	4.96	0.65561	.	0.386252	0.29126	N	0.013062	D	0.94391	0.8196	L	0.55481	1.735	0.80722	D	1	B	0.28998	0.23	B	0.26864	0.074	D	0.92454	0.5972	10	0.14656	T	0.56	-41.232	12.8725	0.57972	1.0:0.0:0.0:0.0	.	148	Q02556	IRF8_HUMAN	R	148	ENSP00000268638:K148R	ENSP00000268638:K148R	K	+	2	0	IRF8	84502761	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	4.908000	0.63307	1.867000	0.54127	0.459000	0.35465	AAG		0.557	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		G	85945260	A	G	85945260	3	3	116	1	0	0	0	0	1	0	0	0	7836	72	3	4	453	4	IRF8	16	85945260	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09	23889995	85945260	4409493	92	6317											
TP53	7157	genome.wustl.edu	37	17	7579389	7579389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr17:7579389G>A	ENST00000269305.4	-	4	487	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q100*	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	100	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q100*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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)	TAGGTTTTCTGGGAAGGGACA	0.652		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"	30	Substitution - Nonsense(12)|Deletion - Frameshift(10)|Whole gene deletion(8)	upper_aerodigestive_tract(6)|lung(4)|ovary(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|central_nervous_system(2)|skin(2)|stomach(1)|breast(1)|liver(1)	17											50	52	51					17																	7579389		2203	4300	6503	7520114	SO:0001587	stop_gained	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.298C>T	17.37:g.7579389G>A	ENSP00000269305:p.Gln100*		7520114	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710371	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	3.76	0.43208	.	0.315497	0.32386	N	0.006178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.4011	8.082	0.30750	0.0:0.1753:0.6433:0.1814	.	.	.	.	X	100	.	ENSP00000269305:Q100X	Q	-	1	0	TP53	7520114	0.357000	0.24938	0.127000	0.21898	0.611000	0.37282	3.263000	0.51546	1.327000	0.45338	0.655000	0.94253	CAG		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7579389	G	A	7579389	4	1	116	1	0	0	0	0	0	1	0	0	16381	1357	47	2	1004	2	TP53	17	7579389	Nonsense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09		7579389	73615821	93	6318											
DNAH2	146754	genome.wustl.edu	37	17	7662788	7662788	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr17:7662788G>A	ENST00000572933.1	+	16	3957	c.2497G>A	c.(2497-2499)Gag>Aag	p.E833K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E833K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	833	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E833K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGCATGATGGAGGATGCCCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	17											112	98	103					17																	7662788		2203	4300	6503	7603513	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2497G>A	17.37:g.7662788G>A	ENSP00000458355:p.Glu833Lys		7603513	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446917	0.84101	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23147	1.92	5.38	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.81497	2.545	0.80722	D	1	D	0.55605	0.972	P	0.58391	0.838	T	0.30504	-0.9976	10	0.20046	T	0.44	.	12.4405	0.55621	0.0829:0.0:0.9171:0.0	.	833	Q9P225	DYH2_HUMAN	K	833	ENSP00000373825:E833K	ENSP00000353818:E833K	E	+	1	0	DNAH2	7603513	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.462000	0.73526	2.524000	0.85096	0.491000	0.48974	GAG		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7662788	G	A	7662788	3	1	116	1	0	0	0	0	1	0	0	0	4602	1175	41	2	2555	2	DNAH2	17	7662788	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	83399	7662788	73532422	94	6319											
G6PC	2538	genome.wustl.edu	37	17	41063279	41063279	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr17:41063279G>A	ENST00000253801.2	+	5	989	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	304					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.V304I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGCCTCCCTCGTCCTCCTGCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	17											144	137	140					17																	41063279		2203	4300	6503	38316805	SO:0001583	missense	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.910G>A	17.37:g.41063279G>A	ENSP00000253801:p.Val304Ile		38316805	A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	5.746	0.322133	0.10900	.	.	ENSG00000131482	ENST00000253801	T	0.75938	-0.98	5.07	-3.34	0.04943	.	0.573150	0.17666	N	0.166137	T	0.42562	0.1208	N	0.08118	0	0.37938	D	0.932213	B	0.02656	0.0	B	0.01281	0.0	T	0.04386	-1.0955	10	0.20519	T	0.43	.	2.8103	0.05440	0.5042:0.1024:0.2207:0.1727	.	304	P35575	G6PC_HUMAN	I	304	ENSP00000253801:V304I	ENSP00000253801:V304I	V	+	1	0	G6PC	38316805	0.001000	0.12720	0.123000	0.21794	0.966000	0.64601	-1.271000	0.02828	-0.449000	0.07117	0.637000	0.83480	GTC		0.577	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		A	41063279	G	A	41063279	3	1	116	1	0	0	0	0	1	0	0	0	6143	1145	40	1	928	1	G6PC	17	41063279	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	33400491	41063279	40131931	95	6320											
INTS2	57508	genome.wustl.edu	37	17	59947159	59947159	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr17:59947159C>A	ENST00000444766.3	-	21	3068	c.2993G>T	c.(2992-2994)tGt>tTt	p.C998F	INTS2_ENST00000251334.6_Missense_Mutation_p.C990F	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	998					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.C998F(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CAAGAGACAACAGATAAGGCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	17											236	231	232					17																	59947159		1935	4140	6075	57301941	SO:0001583	missense	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2993G>T	17.37:g.59947159C>A	ENSP00000414237:p.Cys998Phe		57301941	Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084364	0.76642	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.62498	0.02	5.22	5.22	0.72569	.	0.045792	0.85682	D	0.000000	T	0.67618	0.2912	M	0.74647	2.275	0.80722	D	1	P	0.50528	0.936	P	0.44990	0.466	T	0.71297	-0.4635	9	.	.	.	-8.557	17.7739	0.88501	0.0:1.0:0.0:0.0	.	998	Q9H0H0	INT2_HUMAN	F	998;997	ENSP00000414237:C998F	.	C	-	2	0	INTS2	57301941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.440000	0.82611	0.650000	0.86243	TGT		0.403	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		A	59947159	C	A	59947159	3	1	116	1	0	0	0	0	1	0	0	0	7778	478	17	3	641	3	INTS2	17	59947159	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	18883880	59947159	21248051	96	6321											
EIF4A3	9775	genome.wustl.edu	37	17	78109893	78109893	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr17:78109893C>G	ENST00000269349.3	-	11	1350	c.1129G>C	c.(1129-1131)Gcc>Ccc	p.A377P		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	377	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.A377P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			AAGTTAATGGCCACACCCTTC	0.393																																																1	Substitution - Missense(1)	ovary(1)	17											124	115	118					17																	78109893		2203	4300	6503	75724488	SO:0001583	missense	9775			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"DEAD-boxes"	18683	protein-coding gene	gene with protein product		608546	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48", "eukaryotic translation initiation factor 4A, isoform 3"	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.1129G>C	17.37:g.78109893C>G	ENSP00000269349:p.Ala377Pro		75724488	Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053629	0.55218	.	.	ENSG00000141543	ENST00000269349	T	0.06449	3.3	4.18	4.18	0.49190	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	H	0.95679	3.705	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	T	0.51787	-0.8661	10	0.87932	D	0	-27.3079	14.0211	0.64555	0.0:1.0:0.0:0.0	.	377	P38919	IF4A3_HUMAN	P	377	ENSP00000269349:A377P	ENSP00000269349:A377P	A	-	1	0	EIF4A3	75724488	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	7.212000	0.77941	2.185000	0.69588	0.555000	0.69702	GCC		0.393	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		G	78109893	C	G	78109893	3	3	116	1	0	0	0	0	1	0	0	0	5026	739	26	3	114	3	EIF4A3	17	78109893	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	18162734	78109893	3085317	97	6322											
DSG1	1828	genome.wustl.edu	37	18	28914029	28914029	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr18:28914029T>A	ENST00000257192.4	+	8	1081	c.869T>A	c.(868-870)aTt>aAt	p.I290N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	290	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.I290N(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTGCTCGAGATTAGAGTAATT	0.323																																																1	Substitution - Missense(1)	ovary(1)	18											77	84	81					18																	28914029		2203	4294	6497	27168027	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.869T>A	18.37:g.28914029T>A	ENSP00000257192:p.Ile290Asn		27168027	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893624	0.52121	.	.	ENSG00000134760	ENST00000257192	T	0.54866	0.55	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.592105	0.16666	N	0.204561	T	0.77322	0.4113	M	0.88570	2.965	0.80722	D	1	D	0.56746	0.977	D	0.69479	0.964	T	0.81011	-0.1126	10	0.87932	D	0	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	290	Q02413	DSG1_HUMAN	N	290	ENSP00000257192:I290N	ENSP00000257192:I290N	I	+	2	0	DSG1	27168027	0.983000	0.35010	0.267000	0.24556	0.113000	0.19764	6.439000	0.73430	2.209000	0.71365	0.533000	0.62120	ATT		0.323	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		A	28914029	T	A	28914029	3	1	116	1	0	0	0	0	1	0	0	0	4776	1493	52	5	899	5	DSG1	18	28914029	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09		28914029	49163219	98	6323											
MUC16	94025	genome.wustl.edu	37	19	8976817	8976817	+	Silent	SNP	G	G	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr19:8976817G>A	ENST00000397910.4	-	73	42452	c.42249C>T	c.(42247-42249)atC>atT	p.I14083I	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Silent_p.I724I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14113				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.?(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGATTGGAGATGGTGAAGT	0.567																																																1	Unknown(1)	ovary(1)	19											117	119	118					19																	8976817		2001	4156	6157	8837817	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42249C>T	19.37:g.8976817G>A			8837817	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.360	-0.346833	0.05208	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.37	3.33	0.38152	.	.	.	.	.	T	0.48995	0.1531	.	.	.	.	.	.	.	.	.	.	.	.	T	0.57866	-0.7737	3	.	.	.	.	8.2743	0.31864	0.1093:0.0:0.8907:0.0	.	.	.	.	F	906	.	.	S	-	2	0	MUC16	8837817	0.997000	0.39634	1.000000	0.80357	0.221000	0.24807	0.588000	0.23924	1.199000	0.43173	0.457000	0.33378	TCT		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8976817	G	A	8976817	2	1	116	1	0	0	0	0	0	0	0	1	9973	932	33	2		2	MUC16	19	8976817	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09		8976817	50152166	99	6324											
ZSCAN5B	342933	genome.wustl.edu	37	19	56704059	56704059	+	Silent	SNP	A	A	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr19:56704059A>G	ENST00000586855.2	-	2	676	c.363T>C	c.(361-363)aaT>aaC	p.N121N	ZSCAN5B_ENST00000358992.3_Silent_p.N121N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N121N(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTCTTCTGTTATTTCGTAGCA	0.527																																																1	Substitution - coding silent(1)	ovary(1)	19											55	60	58					19																	56704059		2203	4298	6501	61395871	SO:0001819	synonymous_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.363T>C	19.37:g.56704059A>G			61395871		Silent	SNP	ENST00000586855.2	37	CCDS46203.1																																																																																				0.527	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		G	56704059	A	G	56704059	2	3	116	1	0	0	0	0	0	0	0	1	18239	446	16	4		4	ZSCAN5B	19	56704059	Silent	SNP	A	TCGA-13-0920-01A-01W-0421-09	47727242	56704059	2424924	100	6325											
CASS4	57091	genome.wustl.edu	37	20	55026992	55026992	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr20:55026992A>T	ENST00000360314.3	+	6	985	c.760A>T	c.(760-762)Agc>Tgc	p.S254C	CASS4_ENST00000371336.3_Missense_Mutation_p.S254C|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	254					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.S254C(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGGAAAGGCCAGCGTCAGAAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	20											68	67	67					20																	55026992		2203	4300	6503	54460399	SO:0001583	missense	57091			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.760A>T	20.37:g.55026992A>T	ENSP00000353462:p.Ser254Cys		54460399	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095217	0.56075	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.14144	2.53;2.53	5.23	-4.9	0.03094	.	1.787360	0.02916	N	0.137378	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	D;D;D	0.63046	0.985;0.992;0.973	P;P;P	0.53360	0.527;0.724;0.533	T	0.34925	-0.9809	10	0.56958	D	0.05	1.1541	10.636	0.45565	0.2198:0.1214:0.6587:0.0	.	200;254;254	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	C	254	ENSP00000353462:S254C;ENSP00000360387:S254C	ENSP00000353462:S254C	S	+	1	0	CASS4	54460399	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.336000	0.07863	-0.882000	0.03987	0.460000	0.39030	AGC		0.502	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		T	55026992	A	T	55026992	3	4	116	1	0	0	0	0	1	0	0	0	2683	188	7	5	778	5	CASS4	20	55026992	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09		55026992	7998528	101	6326											
YTHDF1	54915	genome.wustl.edu	37	20	61834694	61834694	+	Missense_Mutation	SNP	C	C	T	rs374927858		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr20:61834694C>T	ENST00000370339.3	-	4	939	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.V150I	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	200							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.V200I(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						ACCGTCTTGACGGCGGAGGAG	0.607																																																1	Substitution - Missense(1)	ovary(1)	20						C	ILE/VAL	0,4406		0,0,2203	43	39	40		598	5.2	0.9	20		40	1,8599	1.2+/-3.3	0,1,4299	no	missense	YTHDF1	NM_017798.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	200/560	61834694	1,13005	2203	4300	6503	61305139	SO:0001583	missense	54915			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.598G>A	20.37:g.61834694C>T	ENSP00000359364:p.Val200Ile		61305139	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000205	0.54147	0.0	1.16E-4	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.50813	0.73;0.73	5.15	5.15	0.70609	.	0.110164	0.64402	D	0.000009	T	0.32585	0.0834	N	0.08118	0	0.80722	D	1	D	0.61697	0.99	P	0.44772	0.46	T	0.13656	-1.0501	10	0.18710	T	0.47	-19.7646	18.6283	0.91349	0.0:1.0:0.0:0.0	.	200	Q9BYJ9	YTHD1_HUMAN	I	200;150	ENSP00000359364:V200I;ENSP00000359358:V150I	ENSP00000359358:V150I	V	-	1	0	YTHDF1	61305139	1.000000	0.71417	0.937000	0.37676	0.221000	0.24807	5.949000	0.70257	2.400000	0.81607	0.491000	0.48974	GTC		0.607	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		T	61834694	C	T	61834694	3	4	116	1	0	0	0	0	1	0	0	0	17498	536	19	1	1089	1	YTHDF1	20	61834694	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	6807702	61834694	1190826	102	6327											
RIPK4	54101	genome.wustl.edu	37	21	43161481	43161481	+	Missense_Mutation	SNP	G	G	C	rs549988231		TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr21:43161481G>C	ENST00000352483.2	-	9	2080	c.2016C>G	c.(2014-2016)atC>atG	p.I672M	RIPK4_ENST00000544709.1_Missense_Mutation_p.I561M|RIPK4_ENST00000542057.1_Missense_Mutation_p.I561M|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.I624M			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	672					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I624M(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCACAGGTCGATGAGGATGC	0.692																																																1	Substitution - Missense(1)	ovary(1)	21											56	59	58					21																	43161481		2202	4296	6498	42034550	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2016C>G	21.37:g.43161481G>C	ENSP00000330161:p.Ile672Met		42034550	Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.892325|1.892325	0.33442|0.33442	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057|ENST00000330470	T;T;T;T|.	0.69306|.	1.86;-0.39;1.86;1.86|.	4.92|4.92	-7.07|-7.07	0.01563|0.01563	.|.	0.203433|.	0.33572|.	N|.	0.004780|.	T|T	0.41119|0.41119	0.1145|0.1145	M|M	0.82517|0.82517	2.595|2.595	0.23036|0.23036	N|N	0.998398|0.998398	D|.	0.69078|.	0.997|.	D|.	0.66497|.	0.944|.	T|T	0.42378|0.42378	-0.9455|-0.9455	10|6	0.72032|0.33940	D|T	0.01|0.23	-13.6464|-13.6464	0.5524|0.5524	0.00664|0.00664	0.3662:0.1589:0.2345:0.2404|0.3662:0.1589:0.2345:0.2404	.|.	624|.	P57078-2|.	.|.	M|G	624;672;561;561|361	ENSP00000332454:I624M;ENSP00000330161:I672M;ENSP00000441754:I561M;ENSP00000442901:I561M|.	ENSP00000332454:I624M|ENSP00000330975:R361G	I|R	-|-	3|1	3|2	RIPK4|RIPK4	42034550|42034550	0.037000|0.037000	0.19845|0.19845	0.161000|0.161000	0.22692|0.22692	0.722000|0.722000	0.41435|0.41435	-0.949000|-0.949000	0.03893|0.03893	-1.535000|-1.535000	0.01740|0.01740	-0.733000|-0.733000	0.03571|0.03571	ATC|CGA		0.692	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		C	43161481	G	C	43161481	3	2	116	1	0	0	0	0	1	0	0	0	13386	1048	37	3	486	3	RIPK4	21	43161481	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09		43161481	4968414	103	6328											
SF3A1	10291	genome.wustl.edu	37	22	30742390	30742390	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr22:30742390T>A	ENST00000215793.8	-	3	458	c.304A>T	c.(304-306)Aag>Tag	p.K102*	SF3A1_ENST00000439242.1_Nonsense_Mutation_p.K102*	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	102					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K102*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TTCCCTTCCTTGAACTCGCTG	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	22											141	130	134					22																	30742390		2203	4300	6503	29072390	SO:0001587	stop_gained	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.304A>T	22.37:g.30742390T>A	ENSP00000215793:p.Lys102*		29072390	E9PAW1	Nonsense_Mutation	SNP	ENST00000215793.8	37	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	T	37	6.442073	0.97568	.	.	ENSG00000099995	ENST00000439242;ENST00000215793	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.7965	15.7623	0.78096	0.0:0.0:0.0:1.0	.	.	.	.	X	102	.	ENSP00000215793:K102X	K	-	1	0	SF3A1	29072390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.979000	0.70508	2.311000	0.77944	0.533000	0.62120	AAG		0.582	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		A	30742390	T	A	30742390	4	1	116	1	0	0	0	0	0	1	0	0	14149	1821	63	5	2133	5	SF3A1	22	30742390	Nonsense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09		30742390	20562176	104	6329											
ENTHD1	150350	genome.wustl.edu	37	22	40283672	40283672	+	Silent	SNP	G	G	A	rs146928757	byFrequency	TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr22:40283672G>A	ENST00000325157.6	-	2	331	c.81C>T	c.(79-81)aaC>aaT	p.N27N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	27	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.N27N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCAAGGGTCGTTAGAAGTTG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	22						G		0,4406		0,0,2203	98	98	98		81	2.4	1	22	dbSNP_134	98	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ENTHD1	NM_152512.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		27/608	40283672	5,13001	2203	4300	6503	38613618	SO:0001819	synonymous_variant	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.81C>T	22.37:g.40283672G>A			38613618	B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	CCDS13998.1																																																																																				0.398	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		A	40283672	G	A	40283672	2	1	116	1	0	0	0	0	0	0	0	1	5137	1136	40	1		1	ENTHD1	22	40283672	Silent	SNP	G	TCGA-13-0920-01A-01W-0421-09	9541282	40283672	11020894	105	6330											
DNAJB7	150353	genome.wustl.edu	37	22	41257669	41257669	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chr22:41257669G>C	ENST00000307221.4	-	1	461	c.330C>G	c.(328-330)caC>caG	p.H110Q	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	110							chaperone binding (GO:0051087)	p.H110Q(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCAAAGAAGTGAAAAGAAA	0.388																																																1	Substitution - Missense(1)	ovary(1)	22											81	86	84					22																	41257669		2203	4300	6503	39587615	SO:0001583	missense	150353			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"Heat shock proteins / DNAJ (HSP40)"	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.330C>G	22.37:g.41257669G>C	ENSP00000307197:p.His110Gln		39587615	Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510707	0.27036	.	.	ENSG00000172404	ENST00000307221	T	0.73575	-0.76	4.7	1.46	0.22682	.	2.012990	0.02534	N	0.093880	T	0.72914	0.3520	M	0.70595	2.14	0.80722	D	1	B	0.15141	0.012	B	0.19148	0.024	T	0.53464	-0.8435	10	0.29301	T	0.29	.	6.229	0.20724	0.6527:0.0:0.3473:0.0	.	110	Q7Z6W7	DNJB7_HUMAN	Q	110	ENSP00000307197:H110Q	ENSP00000307197:H110Q	H	-	3	2	DNAJB7	39587615	0.002000	0.14202	0.944000	0.38274	0.500000	0.33767	-0.199000	0.09491	0.348000	0.23949	0.591000	0.81541	CAC		0.388	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		C	41257669	G	C	41257669	3	2	116	1	0	0	0	0	1	0	0	0	4625	1020	36	3	603	3	DNAJB7	22	41257669	Missense_Mutation	SNP	G	TCGA-13-0920-01A-01W-0421-09	973997	41257669	10046897	106	6331											
BEND2	139105	genome.wustl.edu	37	X	18234734	18234734	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chrX:18234734C>T	ENST00000380033.4	-	2	277	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	BEND2_ENST00000380030.3_Missense_Mutation_p.V49I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	49								p.V49I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCTGCTGTGACATAAGTGGAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											269	207	228					X																	18234734		2203	4300	6503	18144655	SO:0001583	missense	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.145G>A	X.37:g.18234734C>T	ENSP00000369372:p.Val49Ile		18144655	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.049796	0.01981	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.26810	1.76;1.71	2.94	-2.95	0.05564	.	.	.	.	.	T	0.11067	0.0270	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.30090	-0.9990	9	0.29301	T	0.29	.	8.0695	0.30680	0.0:0.3816:0.0:0.6184	.	49;49	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	I	49	ENSP00000369372:V49I;ENSP00000369369:V49I	ENSP00000369369:V49I	V	-	1	0	BEND2	18144655	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.285000	0.08410	-0.944000	0.03686	-0.434000	0.05882	GTC		0.423	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		T	18234734	C	T	18234734	3	4	116	1	0	0	0	0	1	0	0	0	1398	478	17	2	2332	2	BEND2	23	18234734	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09		18234734	137035826	107	6332											
DCAF8L1	139425	genome.wustl.edu	37	X	27998266	27998266	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chrX:27998266C>T	ENST00000441525.1	-	1	1300	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	396								p.V396I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTGTACACAACGCAGGTGATG	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											99	90	93					X																	27998266		2202	4300	6502	27908187	SO:0001583	missense	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1186G>A	X.37:g.27998266C>T	ENSP00000405222:p.Val396Ile		27908187	B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	6.989	0.552634	0.13374	.	.	ENSG00000226372	ENST00000441525	D	0.82081	-1.57	1.08	-2.17	0.07059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.177207	0.36932	N	0.002336	T	0.67562	0.2906	L	0.34521	1.04	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.45948	-0.9226	10	0.37606	T	0.19	-2.0265	4.8121	0.13349	0.0:0.3808:0.4094:0.2098	.	396	A6NGE4	DC8L1_HUMAN	I	396	ENSP00000405222:V396I	ENSP00000405222:V396I	V	-	1	0	DCAF8L1	27908187	1.000000	0.71417	0.024000	0.17045	0.129000	0.20672	1.329000	0.33770	-2.073000	0.00878	-1.079000	0.02226	GTT		0.418	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		T	27998266	C	T	27998266	3	4	116	1	0	0	0	0	1	0	0	0	4277	536	19	1	620	1	DCAF8L1	23	27998266	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	9763532	27998266	127272294	108	6333											
ZNF711	7552	genome.wustl.edu	37	X	84526277	84526277	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chrX:84526277C>A	ENST00000373165.3	+	9	2035	c.1729C>A	c.(1729-1731)Ctt>Att	p.L577I	ZNF711_ENST00000276123.3_Missense_Mutation_p.L577I|ZNF711_ENST00000395402.1_Missense_Mutation_p.L585I|ZNF711_ENST00000542798.1_Missense_Mutation_p.L419I|ZNF711_ENST00000360700.4_Missense_Mutation_p.L623I	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	577				L -> P (in Ref. 3; BAG61766). {ECO:0000305}.	positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.L587I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGAGAGGGAGCTTCAACGCCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	X											80	63	69					X																	84526277		2201	4298	6499	84412933	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1729C>A	X.37:g.84526277C>A	ENSP00000362260:p.Leu577Ile		84412933	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427979	0.43122	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.3	2.56	0.30785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.189536	0.25529	N	0.030048	T	0.45975	0.1369	M	0.90198	3.095	0.41683	D	0.989305	D;B	0.64830	0.994;0.018	P;B	0.54499	0.754;0.016	T	0.47086	-0.9144	10	0.72032	D	0.01	-2.2071	8.0858	0.30771	0.0:0.7242:0.1278:0.1481	.	623;577	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	I	585;577;577;623;419	ENSP00000378798:L585I;ENSP00000362260:L577I;ENSP00000276123:L577I;ENSP00000353922:L623I;ENSP00000442071:L419I	ENSP00000276123:L577I	L	+	1	0	ZNF711	84412933	1.000000	0.71417	0.946000	0.38457	0.989000	0.77384	4.946000	0.63576	0.111000	0.17947	0.513000	0.50165	CTT		0.408	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		A	84526277	C	A	84526277	3	1	116	1	0	0	0	0	1	0	0	0	18116	797	28	3	1755	3	ZNF711	23	84526277	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	56528011	84526277	70744283	109	6334											
SYTL4	94121	genome.wustl.edu	37	X	99942147	99942147	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chrX:99942147C>G	ENST00000372989.1	-	13	1432	c.1101G>C	c.(1099-1101)gaG>gaC	p.E367D	SYTL4_ENST00000455616.1_Missense_Mutation_p.E367D|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000263033.5_Missense_Mutation_p.E367D|SYTL4_ENST00000454200.2_Missense_Mutation_p.E369D|SYTL4_ENST00000276141.6_Missense_Mutation_p.E367D	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	367	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.E367D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGGTTTGCTGCTCATACTTCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	X											108	85	93					X																	99942147		2203	4300	6503	99828803	SO:0001583	missense	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1101G>C	X.37:g.99942147C>G	ENSP00000362080:p.Glu367Asp		99828803	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	2.987	-0.208960	0.06140	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26	5.98	0.924	0.19418	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.239962	0.48767	N	0.000166	T	0.01800	0.0057	N	0.01048	-1.04	0.27471	N	0.952868	B	0.02656	0.0	B	0.01281	0.0	T	0.39941	-0.9589	9	.	.	.	-12.1872	1.4814	0.02437	0.2466:0.4282:0.1179:0.2073	.	367	Q96C24	SYTL4_HUMAN	D	367;367;369;367;367	ENSP00000362080:E367D;ENSP00000390252:E367D;ENSP00000403556:E369D;ENSP00000276141:E367D;ENSP00000263033:E367D	.	E	-	3	2	SYTL4	99828803	0.630000	0.27155	0.965000	0.40720	0.964000	0.63967	0.314000	0.19432	0.011000	0.14865	-0.197000	0.12766	GAG		0.507	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		G	99942147	C	G	99942147	3	3	116	1	0	0	0	0	1	0	0	0	15485	796	28	3	942	3	SYTL4	23	99942147	Missense_Mutation	SNP	C	TCGA-13-0920-01A-01W-0421-09	15415870	99942147	55328413	110	6335											
HTR2C	3358	genome.wustl.edu	37	X	113965830	113965830	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chrX:113965830T>A	ENST00000276198.1	+	4	891	c.163T>A	c.(163-165)Tgg>Agg	p.W55R	HTR2C_ENST00000371950.3_Missense_Mutation_p.W55R|HTR2C_ENST00000371951.1_Missense_Mutation_p.W55R	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	55					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.W55R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGTACAAAACTGGCCAGCACT	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											165	141	149					X																	113965830		2203	4300	6503	113872086	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.163T>A	X.37:g.113965830T>A	ENSP00000276198:p.Trp55Arg		113872086	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174595	0.78452	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.37752	2.16;2.16;1.18	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.989;0.999	T	0.33879	-0.9851	10	0.33940	T	0.23	.	12.1989	0.54313	0.0:0.0:0.0:1.0	.	55;55	B1AMW4;P28335	.;5HT2C_HUMAN	R	55	ENSP00000276198:W55R;ENSP00000361019:W55R;ENSP00000361018:W55R	ENSP00000276198:W55R	W	+	1	0	HTR2C	113872086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.011000	0.59026	0.481000	0.45027	TGG		0.438	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		A	113965830	T	A	113965830	3	1	116	1	0	0	0	0	1	0	0	0	7443	1580	55	5	169	5	HTR2C	23	113965830	Missense_Mutation	SNP	T	TCGA-13-0920-01A-01W-0421-09	14023683	113965830	41304730	111	6336											
LUZP4	51213	genome.wustl.edu	37	X	114537922	114537922	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chrX:114537922A>T	ENST00000371920.3	+	3	288	c.281A>T	c.(280-282)cAa>cTa	p.Q94L	LUZP4_ENST00000451986.2_Intron	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	94						nucleus (GO:0005634)		p.Q94L(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AAACCATCCCAAAAACCTTCT	0.338																																																1	Substitution - Missense(1)	ovary(1)	X											117	114	115					X																	114537922		2203	4300	6503	114444178	SO:0001583	missense	51213			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"cancer/testis antigen 28"	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.281A>T	X.37:g.114537922A>T	ENSP00000360988:p.Gln94Leu		114444178	B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.179690	0.38511	.	.	ENSG00000102021	ENST00000371920	T	0.36520	1.25	3.06	1.87	0.25490	.	.	.	.	.	T	0.34542	0.0901	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.58130	0.833	T	0.11891	-1.0569	9	0.72032	D	0.01	.	4.434	0.11542	0.8402:0.0:0.1598:0.0	.	94	Q9P127	LUZP4_HUMAN	L	94	ENSP00000360988:Q94L	ENSP00000360988:Q94L	Q	+	2	0	LUZP4	114444178	0.086000	0.21541	0.001000	0.08648	0.102000	0.19082	0.761000	0.26489	0.422000	0.26005	0.417000	0.27973	CAA		0.338	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		T	114537922	A	T	114537922	3	4	116	1	0	0	0	0	1	0	0	0	9088	130	5	5	291	5	LUZP4	23	114537922	Missense_Mutation	SNP	A	TCGA-13-0920-01A-01W-0421-09	572092	114537922	40732638	112	6337											
PASD1	139135	genome.wustl.edu	37	X	150842517	150842517	+	Silent	SNP	A	A	T			TCGA-13-0920-01A-01W-0421-09	TCGA-13-0920-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2e28969b-c9a9-41ec-80bf-f583197b7f92	83a80d56-e463-4096-8c17-a44000f80f66	g.chrX:150842517A>T	ENST00000370357.4	+	15	2279	c.2034A>T	c.(2032-2034)tcA>tcT	p.S678S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	678						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.S678S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGACTCAACCATAAGCA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	X											128	115	119					X																	150842517		2203	4300	6503	150593173	SO:0001819	synonymous_variant	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2034A>T	X.37:g.150842517A>T			150593173	Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	CCDS35431.1																																																																																				0.498	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		T	150842517	A	T	150842517	2	4	116	1	0	0	0	0	0	0	0	1	11471	117	5	5		5	PASD1	23	150842517	Silent	SNP	A	TCGA-13-0920-01A-01W-0421-09	36304595	150842517	4428043	113	6338											
EYA3	2140	broad.mit.edu	37	1	28315148	28315148	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:28315148G>C	ENST00000373871.3	-	16	1678	c.1438C>G	c.(1438-1440)Ctg>Gtg	p.L480V	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.L323V|EYA3_ENST00000540618.1_Missense_Mutation_p.L434V|EYA3_ENST00000545175.1_Missense_Mutation_p.L427V|EYA3_ENST00000373863.3_Missense_Mutation_p.L434V|EYA3_ENST00000436342.2_Missense_Mutation_p.L354V	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	480				L -> P (in Ref. 2; AAB42066). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L480V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTAGTGATCAGAACATTCACA	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											68	69	69					1																	28315148		2203	4300	6503	28187735	SO:0001583	missense	2140			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1438C>G	1.37:g.28315148G>C	ENSP00000362978:p.Leu480Val		28187735	A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	CCDS316.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806488	0.70682	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	6.07	2.78	0.32641	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.87803	0.6269	L	0.56769	1.78	0.58432	D	0.999996	D;D;D	0.71674	0.987;0.996;0.998	D;D;D	0.81914	0.963;0.993;0.995	D	0.86666	0.1907	10	0.44086	T	0.13	-18.5363	12.6049	0.56516	0.209:0.0:0.791:0.0	.	434;434;480	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	V	480;354;323;434;427;434	ENSP00000362978:L480V;ENSP00000405587:L354V;ENSP00000362971:L323V;ENSP00000442558:L434V;ENSP00000442280:L427V;ENSP00000362970:L434V	ENSP00000362970:L434V	L	-	1	2	EYA3	28187735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.326000	0.43849	0.898000	0.36418	0.655000	0.94253	CTG		0.408	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		C	28315148	G	C	28315148	3	2	117	1	0	0	0	0	1	0	0	0	5330	933	33	3	295	3	EYA3	1	28315148	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08		28315148	220935473	1	6339											
SPOCD1	90853	broad.mit.edu	37	1	32279608	32279608	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:32279608C>G	ENST00000360482.2	-	2	1456	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	SPOCD1_ENST00000373648.2_Missense_Mutation_p.D443H|SPOCD1_ENST00000533231.1_Missense_Mutation_p.D443H|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	443					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.D443H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGGAGTTGTCTGAGCTTCTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											69	71	71					1																	32279608		2203	4300	6503	32052195	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1327G>C	1.37:g.32279608C>G	ENSP00000353670:p.Asp443His		32052195	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674485	0.47781	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.39229	1.69;1.09;1.69	3.34	3.34	0.38264	.	.	.	.	.	T	0.28034	0.0691	N	0.19112	0.55	0.09310	N	1	B;B	0.24882	0.113;0.069	B;B	0.24006	0.05;0.018	T	0.10660	-1.0620	9	0.35671	T	0.21	0.1262	10.4265	0.44380	0.0:1.0:0.0:0.0	.	443;443	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	H	443	ENSP00000353670:D443H;ENSP00000362752:D443H;ENSP00000435851:D443H	ENSP00000353670:D443H	D	-	1	0	SPOCD1	32052195	0.000000	0.05858	0.036000	0.18154	0.211000	0.24417	0.190000	0.17057	2.152000	0.67230	0.305000	0.20034	GAC		0.592	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		G	32279608	C	G	32279608	3	3	117	1	0	0	0	0	1	0	0	0	15080	913	32	3	2383	3	SPOCD1	1	32279608	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	3964460	32279608	216971013	2	6340											
CSMD2	114784	broad.mit.edu	37	1	34128685	34128685	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:34128685A>T	ENST00000373380.1	-	5	899	c.679T>A	c.(679-681)Ttc>Atc	p.F227I	CSMD2_ENST00000373381.4_Missense_Mutation_p.F1354I|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1314	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1314I(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACACCAGGAAGTGTAGCCTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											66	60	62					1																	34128685		2203	4300	6503	33901272	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.679T>A	1.37:g.34128685A>T	ENSP00000362478:p.Phe227Ile		33901272	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	A	27.8	4.867351	0.91511	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.23754	1.89;1.89	5.22	5.22	0.72569	CUB (5);	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	M	0.79475	2.455	0.80722	D	1	P;D;P	0.55605	0.511;0.972;0.923	B;P;P	0.56865	0.26;0.808;0.706	T	0.49476	-0.8936	10	0.52906	T	0.07	.	14.5749	0.68238	1.0:0.0:0.0:0.0	.	227;1314;1354	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	I	1354;227	ENSP00000362479:F1354I;ENSP00000362478:F227I	ENSP00000241312:F1314I	F	-	1	0	CSMD2	33901272	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.287000	0.95975	2.106000	0.64143	0.459000	0.35465	TTC		0.597	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		T	34128685	A	T	34128685	3	4	117	1	0	0	0	0	1	0	0	0	3945	72	3	5	6699	5	CSMD2	1	34128685	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	1849077	34128685	215121936	3	6341											
EIF2C4	192670	broad.mit.edu	37	1	36291649	36291649	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:36291649A>G	ENST00000373210.3	+	6	993	c.748A>G	c.(748-750)Aaa>Gaa	p.K250E		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	250	PAZ. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.K250E(1)									CAAATTTACCAAAGAAATCAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											106	100	102					1																	36291649		2203	4300	6503	36064236	SO:0001583	missense	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.748A>G	1.37:g.36291649A>G	ENSP00000362306:p.Lys250Glu		36064236	A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	CCDS397.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698017	0.68386	.	.	ENSG00000134698	ENST00000373210	T	0.14391	2.51	5.53	5.53	0.82687	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.87328	2.875	0.80722	D	1	B	0.14805	0.011	B	0.29353	0.101	T	0.08472	-1.0720	10	0.62326	D	0.03	-14.7527	15.6642	0.77213	1.0:0.0:0.0:0.0	.	250	Q9HCK5	AGO4_HUMAN	E	250	ENSP00000362306:K250E	ENSP00000362306:K250E	K	+	1	0	EIF2C4	36064236	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.098000	0.63641	0.455000	0.32223	AAA		0.458	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		G	36291649	A	G	36291649	3	3	117	1	0	0	0	0	1	0	0	0	5008	131	5	4	770	4	EIF2C4	1	36291649	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	2162964	36291649	212958972	4	6342											
PALMD	54873	broad.mit.edu	37	1	100154414	100154414	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:100154414G>C	ENST00000263174.4	+	7	973	c.598G>C	c.(598-600)Gat>Cat	p.D200H	PALMD_ENST00000605497.1_Missense_Mutation_p.D200H	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	200					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.D200H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TCTGCCATCAGATGACTTTAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	1											95	100	98					1																	100154414		2203	4300	6503	99927002	SO:0001583	missense	54873			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.598G>C	1.37:g.100154414G>C	ENSP00000263174:p.Asp200His		99927002	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	CCDS758.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102373	0.37145	.	.	ENSG00000099260	ENST00000263174	T	0.18657	2.2	5.74	4.83	0.62350	.	0.592820	0.19644	N	0.109398	T	0.20618	0.0496	L	0.47716	1.5	0.22240	N	0.999263	D;D	0.58970	0.984;0.98	P;P	0.62649	0.905;0.847	T	0.07328	-1.0778	10	0.72032	D	0.01	-14.1244	9.069	0.36480	0.2322:0.0:0.7678:0.0	.	200;120	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	H	200	ENSP00000263174:D200H	ENSP00000263174:D200H	D	+	1	0	PALMD	99927002	0.999000	0.42202	0.986000	0.45419	0.493000	0.33554	2.949000	0.49074	1.429000	0.47314	0.563000	0.77884	GAT		0.368	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		C	100154414	G	C	100154414	3	2	117	1	0	0	0	0	1	0	0	0	11411	942	33	3	624	3	PALMD	1	100154414	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	63862765	100154414	149096207	5	6343											
SLC16A4	9122	broad.mit.edu	37	1	110921585	110921585	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:110921585G>C	ENST00000369779.4	-	6	1169	c.920C>G	c.(919-921)tCt>tGt	p.S307C	SLC16A4_ENST00000541986.1_Missense_Mutation_p.S245C|SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000437429.2_Missense_Mutation_p.S197C|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.S259C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	307					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.S307C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GAGGAGAAAAGACCAAGTAAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											111	107	108					1																	110921585		2203	4300	6503	110723108	SO:0001583	missense	9122			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.920C>G	1.37:g.110921585G>C	ENSP00000358794:p.Ser307Cys		110723108	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	CCDS823.1	.	.	.	.	.	.	.	.	.	.	g	16.70	3.196706	0.58126	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986;ENST00000467986	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	5.99	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.168676	0.53938	D	0.000041	T	0.71693	0.3370	L	0.50993	1.605	0.48632	D	0.999684	B;B;B;B	0.22003	0.044;0.024;0.005;0.063	B;B;B;B	0.30716	0.081;0.056;0.102;0.119	T	0.68876	-0.5293	10	0.42905	T	0.14	.	17.2614	0.87071	0.0:0.1353:0.8647:0.0	.	197;245;259;307	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	C	307;259;197;245;74	ENSP00000358794:S307C;ENSP00000432495:S259C;ENSP00000394790:S197C;ENSP00000446087:S245C;ENSP00000435768:S74C	ENSP00000358794:S307C	S	-	2	0	SLC16A4	110723108	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.241000	0.65384	2.845000	0.97973	0.651000	0.88453	TCT		0.403	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		C	110921585	G	C	110921585	3	2	117	1	0	0	0	0	1	0	0	0	14413	942	33	3	559	3	SLC16A4	1	110921585	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	10767171	110921585	138329036	6	6344											
RHOC	389	broad.mit.edu	37	1	113245721	113245721	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:113245721G>T	ENST00000285735.2	-	4	1386	c.177C>A	c.(175-177)gaC>gaA	p.D59E	RHOC_ENST00000339083.7_Missense_Mutation_p.D59E|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369636.2_Missense_Mutation_p.D59E|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.H223N|RHOC_ENST00000369632.2_Missense_Mutation_p.D59E|RHOC_ENST00000369633.2_Missense_Mutation_p.D59E|RHOC_ENST00000369637.1_Missense_Mutation_p.D59E|RHOC_ENST00000369638.2_Missense_Mutation_p.D59E|RHOC_ENST00000369642.3_Missense_Mutation_p.D59E			P08134	RHOC_HUMAN	ras homolog family member C	59					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)	p.D59E(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCTGCTGTGTCCCACAGAG	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											66	60	62					1																	113245721		2203	4300	6503	113047244	SO:0001583	missense	389			BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"ras homolog gene family, member C"	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.177C>A	1.37:g.113245721G>T	ENSP00000285735:p.Asp59Glu		113047244	B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	CCDS854.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570964	0.86542	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369636;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717;ENST00000436685;ENST00000414971	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.50627	D	0.000110	D	0.91422	0.7293	M	0.94021	3.485	0.80722	D	1	P	0.40144	0.704	P	0.52823	0.71	D	0.92940	0.6371	10	0.87932	D	0	-12.8773	13.147	0.59467	0.0777:0.0:0.9223:0.0	.	59	P08134	RHOC_HUMAN	E	59;59;59;59;59;59;59;59;96;59;59;59;59	ENSP00000345236:D59E;ENSP00000358647:D59E;ENSP00000358656:D59E;ENSP00000285735:D59E;ENSP00000358652:D59E;ENSP00000358651:D59E;ENSP00000358650:D59E;ENSP00000358646:D59E;ENSP00000434877:D96E;ENSP00000390823:D59E;ENSP00000436240:D59E;ENSP00000399424:D59E;ENSP00000395791:D59E	ENSP00000285735:D59E	D	-	3	2	RHOC	113047244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.857000	0.62939	2.537000	0.85549	0.561000	0.74099	GAC		0.607	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		T	113245721	G	T	113245721	3	4	117	1	0	0	0	0	1	0	0	0	13339	1368	48	3	416	3	RHOC	1	113245721	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	2324136	113245721	136004900	7	6345											
CCT3	7203	broad.mit.edu	37	1	156288685	156288685	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:156288685G>C	ENST00000295688.3	-	8	1013	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V	CCT3_ENST00000368261.3_Missense_Mutation_p.L200V|CCT3_ENST00000368259.2_Missense_Mutation_p.L207V|CCT3_ENST00000472765.2_Missense_Mutation_p.L200V	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	245					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.L245V(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TTGTATTCCAGAGAAGAATCC	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											87	80	82					1																	156288685		2203	4300	6503	154555309	SO:0001583	missense	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.733C>G	1.37:g.156288685G>C	ENSP00000295688:p.Leu245Val		154555309	A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087738	0.76642	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	5.94	0.587	0.17439	.	0.000000	0.64402	D	0.000003	D	0.88108	0.6348	M	0.83692	2.655	0.49213	D	0.999761	D;D;D	0.76494	0.993;0.999;0.99	P;D;D	0.91635	0.826;0.999;0.925	D	0.86656	0.1901	10	0.56958	D	0.05	-11.4721	8.619	0.33849	0.4151:0.0:0.5849:0.0	.	207;244;245	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	V	245;207;200;200;269	ENSP00000295688:L245V;ENSP00000357242:L207V;ENSP00000357244:L200V;ENSP00000431543:L200V;ENSP00000413308:L269V	ENSP00000295688:L245V	L	-	1	2	CCT3	154555309	0.999000	0.42202	0.995000	0.50966	0.876000	0.50452	2.659000	0.46741	0.076000	0.16826	0.643000	0.83706	CTG		0.443	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		C	156288685	G	C	156288685	3	2	117	1	0	0	0	0	1	0	0	0	2954	933	33	3	932	3	CCT3	1	156288685	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	43042964	156288685	92961936	8	6346											
CD1C	911	broad.mit.edu	37	1	158259888	158259888	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:158259888C>T	ENST00000368170.3	+	1	313	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	12					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.L12F(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCTAGCTCTTCTTCTCCCAGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											165	137	147					1																	158259888		2203	4300	6503	156526512	SO:0001583	missense	911			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.34C>T	1.37:g.158259888C>T	ENSP00000357152:p.Leu12Phe		156526512	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	2.751	-0.260003	0.05791	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.01369	4.97	2.37	0.424	0.16468	.	0.996520	0.08117	N	0.995325	T	0.00524	0.0017	L	0.45228	1.405	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.42965	-0.9420	10	0.34782	T	0.22	.	4.8941	0.13742	0.0:0.6858:0.0:0.3142	.	12	P29017	CD1C_HUMAN	F	12	ENSP00000357152:L12F	ENSP00000357151:L12F	L	+	1	0	CD1C	156526512	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.420000	0.07062	0.114000	0.18032	-0.272000	0.10252	CTT		0.463	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		T	158259888	C	T	158259888	3	4	117	1	0	0	0	0	1	0	0	0	2976	913	32	2	36	2	CD1C	1	158259888	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	1971203	158259888	90990733	9	6347											
CD84	8832	broad.mit.edu	37	1	160535332	160535332	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:160535332G>A	ENST00000311224.4	-	2	316	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	CD84_ENST00000368054.3_Missense_Mutation_p.R84W|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368051.3_Missense_Mutation_p.R84W|CD84_ENST00000368048.3_Missense_Mutation_p.R84W|CD84_ENST00000534968.1_Intron	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	84	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R84W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCATGTATCCGTTCATAATAA	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											255	224	234					1																	160535332		2203	4300	6503	158801956	SO:0001583	missense	8832			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.250C>T	1.37:g.160535332G>A	ENSP00000312367:p.Arg84Trp		158801956	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169431	0.57584	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.11	3.14	0.36123	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.87971	2.92	0.27201	N	0.960175	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.42050	-0.9474	10	0.87932	D	0	-12.0244	10.2737	0.43497	0.0:0.0:0.5938:0.4062	.	84;84;84;84;84;84	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	W	84	ENSP00000357033:R84W;ENSP00000357027:R84W;ENSP00000312367:R84W;ENSP00000357030:R84W;ENSP00000353163:R84W;ENSP00000357026:R84W	ENSP00000312367:R84W	R	-	1	2	CD84	158801956	0.702000	0.27816	0.028000	0.17463	0.074000	0.17049	2.042000	0.41222	0.764000	0.33197	0.591000	0.81541	CGG		0.433	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		A	160535332	G	A	160535332	3	1	117	1	0	0	0	0	1	0	0	0	3042	1144	40	1	815	1	CD84	1	160535332	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	2275444	160535332	88715289	10	6348											
CD244	51744	broad.mit.edu	37	1	160808270	160808270	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:160808270C>T	ENST00000368033.3	-	5	902	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	CD244_ENST00000368032.2_Missense_Mutation_p.V269I|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000322302.7_Missense_Mutation_p.V177I|CD244_ENST00000368034.4_Missense_Mutation_p.V269I			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	274					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V269I(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGATCCTTGACATCTTCGTAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											151	151	151					1																	160808270		2203	4300	6503	159074894	SO:0001583	missense	51744			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.820G>A	1.37:g.160808270C>T	ENSP00000357012:p.Val274Ile		159074894	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338551	0.24253	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.54866	0.55;0.55;0.65;0.55	4.61	-0.838	0.10762	.	1.871870	0.02716	N	0.113480	T	0.23210	0.0561	L	0.32530	0.975	0.19300	N	0.999978	P;P;P	0.40619	0.506;0.603;0.724	B;B;B	0.39152	0.276;0.152;0.292	T	0.25082	-1.0142	10	0.62326	D	0.03	-21.0245	7.5762	0.27937	0.0:0.4268:0.0:0.5732	.	177;274;269	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	I	269;274;177;269	ENSP00000357013:V269I;ENSP00000357012:V274I;ENSP00000313619:V177I;ENSP00000357011:V269I	ENSP00000313619:V177I	V	-	1	0	CD244	159074894	0.043000	0.20138	0.545000	0.28153	0.074000	0.17049	-0.158000	0.10070	-0.240000	0.09696	-0.136000	0.14681	GTC		0.458	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		T	160808270	C	T	160808270	3	4	117	1	0	0	0	0	1	0	0	0	2987	478	17	2	312	2	CD244	1	160808270	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	272938	160808270	88442351	11	6349											
MPZ	4359	broad.mit.edu	37	1	161276240	161276240	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:161276240C>T	ENST00000533357.1	-	4	529	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000360451.6_Missense_Mutation_p.G165R|MPZ_ENST00000336559.4_Missense_Mutation_p.G155R|MPZ_ENST00000491222.2_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	155					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.G165R(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGAACGACCCCGTACCTAGTT	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											114	103	106					1																	161276240		2203	4300	6503	159542864	SO:0001583	missense	4359			BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"Immunoglobulin superfamily / V-set domain containing"	7225	protein-coding gene	gene with protein product		159440	"Charcot-Marie-Tooth neuropathy 1B"	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.463G>A	1.37:g.161276240C>T	ENSP00000432943:p.Gly155Arg		159542864	Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	ENST00000533357.1	37	CCDS1229.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414601	0.83449	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	D;D;D	0.96940	-3.97;-3.99;-4.18	5.36	4.45	0.53987	.	0.064478	0.64402	N	0.000009	D	0.86986	0.6065	L	0.32530	0.975	0.41290	D	0.986972	P	0.38711	0.643	B	0.31946	0.138	D	0.84899	0.0841	9	0.23302	T	0.38	-18.2744	12.1705	0.54155	0.0:0.9163:0.0:0.0837	.	155	P25189	MYP0_HUMAN	R	155;165;155	ENSP00000432943:G155R;ENSP00000353634:G165R;ENSP00000337777:G155R	ENSP00000337777:G155R	G	-	1	0	MPZ	159542864	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.174000	0.71943	1.392000	0.46585	0.655000	0.94253	GGG		0.587	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		T	161276240	C	T	161276240	3	4	117	1	0	0	0	0	1	0	0	0	9748	652	23	1	295	1	MPZ	1	161276240	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	467970	161276240	87974381	12	6350											
FCGR2A	2212	broad.mit.edu	37	1	161480679	161480679	+	Silent	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:161480679G>A	ENST00000271450.6	+	5	713	c.675G>A	c.(673-675)gcG>gcA	p.A225A	FCGR2A_ENST00000367972.4_Silent_p.A224A|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	225					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A224A(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGTCATTGCGACTGCTGTAG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	1											224	226	225					1																	161480679		2203	4300	6503	159747303	SO:0001819	synonymous_variant	2212			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.675G>A	1.37:g.161480679G>A			159747303	Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	CCDS44264.1																																																																																				0.502	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		A	161480679	G	A	161480679	2	1	117	1	0	0	0	0	0	0	0	1	5781	1045	37	1		1	FCGR2A	1	161480679	Silent	SNP	G	TCGA-13-0923-01A-01W-0420-08	204439	161480679	87769942	13	6351											
PFKFB2	5208	broad.mit.edu	37	1	207236504	207236504	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:207236504G>T	ENST00000367080.3	+	5	449	c.325G>T	c.(325-327)Gcg>Tcg	p.A109S	PFKFB2_ENST00000411990.2_Missense_Mutation_p.A11S|PFKFB2_ENST00000545806.1_Missense_Mutation_p.A76S|PFKFB2_ENST00000367079.2_Missense_Mutation_p.A109S|PFKFB2_ENST00000541914.1_5'Flank	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	109	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)	p.A109S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TGCTCTGGTGGCGCTGGAAGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											200	178	185					1																	207236504		2203	4300	6503	205303127	SO:0001583	missense	5208				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.325G>T	1.37:g.207236504G>T	ENSP00000356047:p.Ala109Ser		205303127	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378787	0.95945	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	5.32	5.32	0.75619	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.83986	0.5373	M	0.85777	2.775	0.80722	D	1	P;D;P	0.76494	0.885;0.999;0.869	P;D;P	0.91635	0.874;0.999;0.902	D	0.85478	0.1177	9	0.59425	D	0.04	.	18.1693	0.89740	0.0:0.0:1.0:0.0	.	11;109;109	B4DY91;Q5VVQ3;O60825	.;.;F262_HUMAN	S	11;109;109;76	.	ENSP00000356046:A109S	A	+	1	0	PFKFB2	205303127	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.575000	0.98187	2.767000	0.95098	0.655000	0.94253	GCG		0.498	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			T	207236504	G	T	207236504	3	4	117	1	0	0	0	0	1	0	0	0	11761	1203	42	3	339	3	PFKFB2	1	207236504	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	45755825	207236504	42014117	14	6352											
USH2A	7399	broad.mit.edu	37	1	216497643	216497643	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:216497643T>A	ENST00000307340.3	-	7	1581	c.1195A>T	c.(1195-1197)Att>Ttt	p.I399F	USH2A_ENST00000366943.2_Missense_Mutation_p.I399F|USH2A_ENST00000366942.3_Missense_Mutation_p.I399F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	399	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.I399F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCCTTTGAATCCTTATTTCC	0.313										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											86	91	89					1																	216497643		2200	4295	6495	214564266	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1195A>T	1.37:g.216497643T>A	ENSP00000305941:p.Ile399Phe		214564266	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888963	0.91814	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.82255	-1.59;-1.59;-1.59	5.7	5.7	0.88788	Laminin, N-terminal (3);	0.305510	0.22328	N	0.061507	D	0.92146	0.7510	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.985	D	0.93323	0.6694	10	0.87932	D	0	.	15.9583	0.79906	0.0:0.0:0.0:1.0	.	399;399	O75445-2;O75445	.;USH2A_HUMAN	F	399	ENSP00000305941:I399F;ENSP00000355910:I399F;ENSP00000355909:I399F	ENSP00000305941:I399F	I	-	1	0	USH2A	214564266	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	7.760000	0.85248	2.171000	0.68590	0.533000	0.62120	ATT		0.313	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216497643	T	A	216497643	3	1	117	1	0	0	0	0	1	0	0	0	17036	1435	50	5	14691	5	USH2A	1	216497643	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08	9261139	216497643	32752978	15	6353											
OBSCN	84033	broad.mit.edu	37	1	228404884	228404884	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:228404884G>T	ENST00000422127.1	+	8	2592	c.2548G>T	c.(2548-2550)Ggg>Tgg	p.G850W	OBSCN_ENST00000284548.11_Missense_Mutation_p.G850W|OBSCN_ENST00000570156.2_Missense_Mutation_p.G850W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	850	Ig-like 8.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.G850W(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGATGTGGGGACGCGGCA	0.647																																																2	Substitution - Missense(2)	ovary(2)	1											55	64	61					1																	228404884		2152	4256	6408	226471507	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2548G>T	1.37:g.228404884G>T	ENSP00000409493:p.Gly850Trp		226471507	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	8.718	0.913672	0.17907	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.51817	0.69;0.69	4.94	4.02	0.46733	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.246656	0.32372	N	0.006193	T	0.75236	0.3822	H	0.94808	3.585	0.37171	D	0.903054	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.84336	0.0524	10	0.87932	D	0	.	11.9532	0.52966	0.0847:0.0:0.9153:0.0	.	850;850	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	850	ENSP00000284548:G850W;ENSP00000409493:G850W	ENSP00000284548:G850W	G	+	1	0	OBSCN	226471507	1.000000	0.71417	0.032000	0.17829	0.126000	0.20510	8.185000	0.89704	1.308000	0.44962	0.655000	0.94253	GGG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228404884	G	T	228404884	3	4	117	1	0	0	0	0	1	0	0	0	10812	1232	43	3	2574	3	OBSCN	1	228404884	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	11907241	228404884	20845737	16	6354											
RYR2	6262	broad.mit.edu	37	1	237802398	237802398	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr1:237802398G>C	ENST00000366574.2	+	46	7329	c.7012G>C	c.(7012-7014)Gaa>Caa	p.E2338Q	RYR2_ENST00000542537.1_Missense_Mutation_p.E2322Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E2336Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2338	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E2336Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGAGAGGAGAAGGTGGGAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											127	129	128					1																	237802398		1932	4126	6058	235869021	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7012G>C	1.37:g.237802398G>C	ENSP00000355533:p.Glu2338Gln		235869021	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017493	0.93404	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97959	-4.63;-4.6;-4.62	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000007	D	0.98645	0.9546	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99572	1.0971	10	0.59425	D	0.04	.	18.7649	0.91868	0.0:0.0:1.0:0.0	.	2338	Q92736	RYR2_HUMAN	Q	2338;2336;2322	ENSP00000355533:E2338Q;ENSP00000353174:E2336Q;ENSP00000443798:E2322Q	ENSP00000353174:E2336Q	E	+	1	0	RYR2	235869021	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.675000	0.98638	2.498000	0.84270	0.561000	0.74099	GAA		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237802398	G	C	237802398	3	2	117	1	0	0	0	0	1	0	0	0	13772	943	33	3	7194	3	RYR2	1	237802398	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	9397514	237802398	11448223	17	6355											
LPIN1	23175	broad.mit.edu	37	2	11943134	11943134	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:11943134C>A	ENST00000256720.2	+	14	1973	c.1880C>A	c.(1879-1881)aCt>aAt	p.T627N	LPIN1_ENST00000396097.1_Missense_Mutation_p.T357N|LPIN1_ENST00000404113.2_Missense_Mutation_p.T128N|LPIN1_ENST00000396099.1_Missense_Mutation_p.T669N|LPIN1_ENST00000449576.2_Missense_Mutation_p.T712N|LPIN1_ENST00000425416.2_Missense_Mutation_p.T633N	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	627	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.T627N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TACAAGAAGACTCTCCGGCTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											148	124	132					2																	11943134		2203	4300	6503	11860585	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1880C>A	2.37:g.11943134C>A	ENSP00000256720:p.Thr627Asn		11860585	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461720	0.63513	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	D;D;D;D;T;T;T	0.82619	-1.63;-1.62;-1.6;-1.6;-1.45;-0.36;0.23	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.92283	0.7552	M	0.91354	3.2	0.80722	D	1	B;D;P	0.61697	0.435;0.99;0.834	B;D;P	0.68621	0.341;0.959;0.477	D	0.93746	0.7054	10	0.72032	D	0.01	-26.5513	14.8882	0.70587	0.0:0.8559:0.144:0.0	.	128;712;627	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	N	712;669;633;627;357;128;154	ENSP00000397908:T712N;ENSP00000379406:T669N;ENSP00000401522:T633N;ENSP00000256720:T627N;ENSP00000379404:T357N;ENSP00000386120:T128N;ENSP00000413714:T154N	ENSP00000256720:T627N	T	+	2	0	LPIN1	11860585	1.000000	0.71417	0.953000	0.39169	0.447000	0.32167	5.589000	0.67523	2.428000	0.82296	0.462000	0.41574	ACT		0.552	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11943134	C	A	11943134	3	1	117	1	0	0	0	0	1	0	0	0	8918	565	20	3	1930	3	LPIN1	2	11943134	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08		11943134	231256239	18	6356											
SLC5A6	8884	broad.mit.edu	37	2	27426127	27426127	+	Missense_Mutation	SNP	C	C	G	rs201818003	byFrequency	TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:27426127C>G	ENST00000310574.3	-	11	1654	c.1181G>C	c.(1180-1182)cGg>cCg	p.R394P	SLC5A6_ENST00000408041.1_Missense_Mutation_p.R394P|SLC5A6_ENST00000461319.1_5'UTR	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	394					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.R394P(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CATGATGGCCCGGGCTTCAGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											92	97	96					2																	27426127		2203	4300	6503	27279631	SO:0001583	missense	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1181G>C	2.37:g.27426127C>G	ENSP00000310208:p.Arg394Pro		27279631	B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591004	0.66219	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.88354	-2.37;-2.37	5.71	-1.02	0.10135	.	0.741921	0.13570	N	0.378105	D	0.90854	0.7127	M	0.78344	2.41	0.21675	N	0.999593	P	0.50943	0.94	P	0.54889	0.763	D	0.83383	0.0013	10	0.38643	T	0.18	.	10.2526	0.43377	0.0:0.3637:0.0:0.6363	.	394	Q9Y289	SC5A6_HUMAN	P	394	ENSP00000310208:R394P;ENSP00000384853:R394P	ENSP00000310208:R394P	R	-	2	0	SLC5A6	27279631	0.000000	0.05858	0.968000	0.41197	0.905000	0.53344	-0.372000	0.07504	-0.270000	0.09285	0.563000	0.77884	CGG		0.468	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		G	27426127	C	G	27426127	3	3	117	1	0	0	0	0	1	0	0	0	14672	652	23	3	754	3	SLC5A6	2	27426127	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	15482993	27426127	215773246	19	6357											
DYSF	8291	broad.mit.edu	37	2	71886113	71886113	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:71886113A>G	ENST00000258104.3	+	43	5021	c.4744A>G	c.(4744-4746)Atc>Gtc	p.I1582V	DYSF_ENST00000409582.3_Missense_Mutation_p.I1620V|DYSF_ENST00000409762.1_Missense_Mutation_p.I1599V|DYSF_ENST00000429174.2_Missense_Mutation_p.I1603V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.I1614V|DYSF_ENST00000410041.1_Missense_Mutation_p.I1600V|DYSF_ENST00000413539.2_Missense_Mutation_p.I1613V|DYSF_ENST00000409366.1_Missense_Mutation_p.I1604V|DYSF_ENST00000409744.1_Missense_Mutation_p.I1590V|DYSF_ENST00000394120.2_Missense_Mutation_p.I1583V|DYSF_ENST00000410020.3_Missense_Mutation_p.I1621V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1582	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.I1582V(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTTGGTCCGTATCTACATTGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	2											87	90	89					2																	71886113		2203	4300	6503	71739621	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4744A>G	2.37:g.71886113A>G	ENSP00000258104:p.Ile1582Val		71739621	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	A	5.936	0.356711	0.11239	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.63	0.591	0.17465	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.545608	0.20825	N	0.084993	T	0.09949	0.0244	N	0.03304	-0.355	0.25299	N	0.989295	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.15052	0.012;0.005;0.005;0.003;0.003;0.005;0.005;0.005;0.003;0.003;0.004;0.002;0.003;0.003;0.005	T	0.37798	-0.9690	10	0.02654	T	1	-12.9831	8.2986	0.32001	0.5822:0.0:0.4178:0.0	.	346;1614;1621;1604;1569;1600;1590;1599;1589;1613;1620;1603;1568;1583;1582	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	1613;1599;1620;1603;1582;1614;1583;1590;1604;1621;1600	ENSP00000407046:I1613V;ENSP00000387137:I1599V;ENSP00000386547:I1620V;ENSP00000398305:I1603V;ENSP00000258104:I1582V;ENSP00000386683:I1614V;ENSP00000377678:I1583V;ENSP00000386285:I1590V;ENSP00000386512:I1604V;ENSP00000386881:I1621V;ENSP00000386617:I1600V	ENSP00000258104:I1582V	I	+	1	0	DYSF	71739621	0.991000	0.36638	0.754000	0.31244	0.990000	0.78478	2.329000	0.43876	0.104000	0.17725	0.528000	0.53228	ATC		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		G	71886113	A	G	71886113	3	3	117	1	0	0	0	0	1	0	0	0	4859	449	16	4	5173	4	DYSF	2	71886113	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	44459986	71886113	171313260	20	6358											
EIF5B	9669	broad.mit.edu	37	2	100007118	100007118	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:100007118C>A	ENST00000289371.6	+	17	2900	c.2698C>A	c.(2698-2700)Cag>Aag	p.Q900K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	900					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.Q900K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CATTGTAACTCAGATTCGAGG	0.488																																					Colon(162;2388 2567 2705 3444)											1	Substitution - Missense(1)	ovary(1)	2											142	137	139					2																	100007118		1996	4171	6167	99373550	SO:0001583	missense	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2698C>A	2.37:g.100007118C>A	ENSP00000289371:p.Gln900Lys		99373550	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448979	0.96205	.	.	ENSG00000158417	ENST00000289371	T	0.60548	0.18	5.53	5.53	0.82687	Translation elongation factor EFTu/EF1A, domain 2 (1);	.	.	.	.	T	0.64929	0.2643	N	0.25332	0.735	0.80722	D	1	D	0.63046	0.992	D	0.65874	0.939	T	0.60702	-0.7211	8	.	.	.	-18.8787	19.8113	0.96547	0.0:1.0:0.0:0.0	.	900	O60841	IF2P_HUMAN	K	900	ENSP00000289371:Q900K	.	Q	+	1	0	EIF5B	99373550	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.688000	0.84153	2.746000	0.94184	0.561000	0.74099	CAG		0.488	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		A	100007118	C	A	100007118	3	1	117	1	0	0	0	0	1	0	0	0	5044	827	29	3	2764	3	EIF5B	2	100007118	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	28121005	100007118	143192255	21	6359											
NEB	4703	broad.mit.edu	37	2	152362072	152362072	+	Missense_Mutation	SNP	C	C	G	rs533393621	byFrequency	TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:152362072C>G	ENST00000172853.10	-	137	18706	c.18559G>C	c.(18559-18561)Gaa>Caa	p.E6187Q	NEB_ENST00000397336.2_5'Flank|NEB_ENST00000604864.1_Missense_Mutation_p.E7888Q|NEB_ENST00000427231.2_Missense_Mutation_p.E7888Q|NEB_ENST00000397345.3_Missense_Mutation_p.E7888Q|NEB_ENST00000603639.1_Missense_Mutation_p.E7888Q|NEB_ENST00000409198.1_Missense_Mutation_p.E6187Q|NEB_ENST00000509223.2_Missense_Mutation_p.E18Q|NEB_ENST00000498015.2_5'UTR			P20929	NEBU_HUMAN	nebulin	6187					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E6187Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTATTGCTTCCTTATACTTC	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											228	220	222					2																	152362072		1966	4143	6109	152070318	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18559G>C	2.37:g.152362072C>G	ENSP00000172853:p.Glu6187Gln		152070318	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	29.7|29.7|29.7	5.024752|5.024752|5.024752	0.93518|0.93518|0.93518	.|.|.	.|.|.	ENSG00000183091|ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000509223;ENST00000424585|ENST00000421461|ENST00000397337;ENST00000434685	T;T;T;T;T;T;T|.|.	0.58060|.|.	0.36;0.36;0.36;0.36;0.36;4.16;0.36|.|.	5.72|5.72|5.72	5.72|5.72|5.72	0.89469|0.89469|0.89469	.|.|.	0.252336|.|.	0.44902|.|.	D|.|.	0.000406|.|.	T|T|T	0.76004|0.76004|0.76004	0.3927|0.3927|0.3927	M|M|M	0.68317|0.68317|0.68317	2.08|2.08|2.08	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;B;D;D;D|.|.	0.76494|.|.	0.992;0.024;0.999;0.999;0.999|.|.	D;B;D;D;D|.|.	0.83275|.|.	0.976;0.012;0.98;0.977;0.996|.|.	T|T|T	0.72520|0.72520|0.72520	-0.4268|-0.4268|-0.4268	10|5|5	0.37606|.|.	T|.|.	0.19|.|.	.|.|.	20.324|20.324|20.324	0.98686|0.98686|0.98686	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	18;18;6187;7888;2618|.|.	B7Z6B9;B7Z6P9;P20929;F8WCP0;Q14215|.|.	.;.;NEBU_HUMAN;.;.|.|.	Q|A|S	6187;7888;7888;2236;2618;6187;18;115|64|83;438	ENSP00000386259:E6187Q;ENSP00000380505:E7888Q;ENSP00000416578:E7888Q;ENSP00000410961:E2618Q;ENSP00000172853:E6187Q;ENSP00000427083:E18Q;ENSP00000404876:E115Q|.|.	ENSP00000172853:E6187Q|.|.	E|G|R	-|-|-	1|2|3	0|0|2	NEB|NEB|NEB	152070318|152070318|152070318	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	6.740000|6.740000|6.740000	0.74832|0.74832|0.74832	2.881000|2.881000|2.881000	0.98747|0.98747|0.98747	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|GGA|AGG		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152362072	C	G	152362072	3	3	117	1	0	0	0	0	1	0	0	0	10302	864	30	3	1987	3	NEB	2	152362072	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	52354954	152362072	90837301	22	6360											
KIAA1715	80856	broad.mit.edu	37	2	176804339	176804339	+	Silent	SNP	T	T	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:176804339T>C	ENST00000272748.4	-	10	1000	c.753A>G	c.(751-753)cgA>cgG	p.R251R	KIAA1715_ENST00000535310.1_Silent_p.R176R|KIAA1715_ENST00000544803.1_Silent_p.R282R	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	251					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R251R(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CACCTCGTTCTCGGGGGAGAA	0.328																																																1	Substitution - coding silent(1)	ovary(1)	2											87	86	86					2																	176804339		2203	4300	6503	176512585	SO:0001819	synonymous_variant	80856			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.753A>G	2.37:g.176804339T>C			176512585	B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Silent	SNP	ENST00000272748.4	37	CCDS33332.1																																																																																				0.328	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		C	176804339	T	C	176804339	2	2	117	1	0	0	0	0	0	0	0	1	8254	1538	54	4		4	KIAA1715	2	176804339	Silent	SNP	T	TCGA-13-0923-01A-01W-0420-08	24442267	176804339	66395034	23	6361											
PARD3B	117583	broad.mit.edu	37	2	206480345	206480345	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:206480345C>G	ENST00000406610.2	+	23	3633	c.3426C>G	c.(3424-3426)caC>caG	p.H1142Q	PARD3B_ENST00000351153.1_Missense_Mutation_p.H1073Q|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.H1041Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.H1080Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1142					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.H1081Q(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATCCTCAGCACTACCCACCCC	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											65	76	73					2																	206480345		1980	4149	6129	206188590	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3426C>G	2.37:g.206480345C>G	ENSP00000385848:p.His1142Gln		206188590	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37		.	.	.	.	.	.	.	.	.	.	C	4.259	0.047191	0.08243	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.11063	3.01;2.81;3.02;2.87	5.87	-0.0567	0.13804	.	0.125321	0.36932	N	0.002324	T	0.05502	0.0145	N	0.14661	0.345	0.21020	N	0.999806	B;B;B;B	0.28258	0.203;0.002;0.205;0.003	B;B;B;B	0.24394	0.033;0.0;0.053;0.001	T	0.39121	-0.9629	10	0.25751	T	0.34	.	10.9372	0.47251	0.0:0.485:0.0:0.515	.	1142;1073;1080;1041	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	Q	1142;1080;1073;1041	ENSP00000385848:H1142Q;ENSP00000351618:H1080Q;ENSP00000317261:H1073Q;ENSP00000340280:H1041Q	ENSP00000340280:H1041Q	H	+	3	2	PARD3B	206188590	0.605000	0.26941	0.996000	0.52242	0.382000	0.30200	-0.607000	0.05648	-0.084000	0.12595	0.650000	0.86243	CAC		0.597	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		G	206480345	C	G	206480345	3	3	117	1	0	0	0	0	1	0	0	0	11444	564	20	3	3516	3	PARD3B	2	206480345	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	29676006	206480345	36719028	24	6362											
ADAM23	8745	broad.mit.edu	37	2	207437914	207437914	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:207437914G>A	ENST00000264377.3	+	18	2060	c.1732G>A	c.(1732-1734)Ggt>Agt	p.G578S	ADAM23_ENST00000374416.1_Missense_Mutation_p.G578S|ADAM23_ENST00000374415.3_Missense_Mutation_p.G578S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	578	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G578S(1)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGGAGACTCTGGTCAGGTATG	0.413																																					Melanoma(194;1127 2130 19620 24042 27855)											1	Substitution - Missense(1)	ovary(1)	2											241	212	222					2																	207437914		2203	4300	6503	207146159	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1732G>A	2.37:g.207437914G>A	ENSP00000264377:p.Gly578Ser		207146159	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791101	0.31685	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.10573	2.86;2.86;2.86	5.81	5.81	0.92471	Blood coagulation inhibitor, Disintegrin (5);	0.204686	0.34700	N	0.003753	T	0.05502	0.0145	N	0.02192	-0.645	0.80722	D	1	B	0.23591	0.088	B	0.31101	0.124	T	0.24083	-1.0170	10	0.02654	T	1	.	18.9069	0.92466	0.0:0.0:1.0:0.0	.	578	O75077	ADA23_HUMAN	S	578;578;472;578	ENSP00000264377:G578S;ENSP00000363537:G578S;ENSP00000363536:G578S	ENSP00000264377:G578S	G	+	1	0	ADAM23	207146159	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.446000	0.73460	2.755000	0.94549	0.650000	0.86243	GGT		0.413	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		A	207437914	G	A	207437914	3	1	117	1	0	0	0	0	1	0	0	0	245	1348	47	2	1802	2	ADAM23	2	207437914	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	957569	207437914	35761459	25	6363											
PIKFYVE	200576	broad.mit.edu	37	2	209218727	209218727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:209218727C>T	ENST00000264380.4	+	40	6108	c.5950C>T	c.(5950-5952)Cga>Tga	p.R1984*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1984	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.R1984*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAAGATGGTTCGAGACAACCC	0.413																																																1	Substitution - Nonsense(1)	ovary(1)	2											148	151	150					2																	209218727		2203	4300	6503	208926972	SO:0001587	stop_gained	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5950C>T	2.37:g.209218727C>T	ENSP00000264380:p.Arg1984*		208926972	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	48	13.982856	0.99773	.	.	ENSG00000115020	ENST00000264380	.	.	.	6.17	6.17	0.99709	.	0.055528	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-10.4615	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1984	.	ENSP00000264380:R1984X	R	+	1	2	PIKFYVE	208926972	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.666000	0.83877	2.941000	0.99782	0.655000	0.94253	CGA		0.413	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		T	209218727	C	T	209218727	4	4	117	1	0	0	0	0	0	1	0	0	11924	876	31	1	6115	1	PIKFYVE	2	209218727	Nonsense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	1780813	209218727	33980646	26	6364											
FARSB	10056	broad.mit.edu	37	2	223464758	223464758	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:223464758T>G	ENST00000281828.6	-	16	1770	c.1507A>C	c.(1507-1509)Aac>Cac	p.N503H	FARSB_ENST00000536361.1_Missense_Mutation_p.N404H	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	503					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.N503H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GGATTCTTGTTGTAATAAACA	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											133	125	128					2																	223464758		2203	4300	6503	223173002	SO:0001583	missense	10056			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1507A>C	2.37:g.223464758T>G	ENSP00000281828:p.Asn503His		223173002	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536738	0.85812	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.65874	0.892;0.939	T	0.70784	-0.4778	9	0.16896	T	0.51	-20.9208	15.8277	0.78727	0.0:0.0:0.0:1.0	.	503;503	A8K666;Q9NSD9	.;SYFB_HUMAN	H	503;404	.	ENSP00000281828:N503H	N	-	1	0	FARSB	223173002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.735000	0.68587	2.144000	0.66660	0.533000	0.62120	AAC		0.418	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		G	223464758	T	G	223464758	3	3	117	1	0	0	0	0	1	0	0	0	5680	1812	63	5	270	5	FARSB	2	223464758	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08	14246031	223464758	19734615	27	6365											
NCL	4691	broad.mit.edu	37	2	232325561	232325561	+	Silent	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr2:232325561A>T	ENST00000322723.4	-	4	870	c.630T>A	c.(628-630)gcT>gcA	p.A210A	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	210					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.A210A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TAGTCTCCATAGCTTCTTCTT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	2											130	126	127					2																	232325561		2203	4300	6503	232033805	SO:0001819	synonymous_variant	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.630T>A	2.37:g.232325561A>T			232033805	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1																																																																																				0.413	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		T	232325561	A	T	232325561	2	4	117	1	0	0	0	0	0	0	0	1	10226	407	15	5		5	NCL	2	232325561	Silent	SNP	A	TCGA-13-0923-01A-01W-0420-08	8860803	232325561	10873812	28	6366											
ZNF385D	79750	broad.mit.edu	37	3	21462839	21462839	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr3:21462839C>A	ENST00000281523.2	-	8	1573	c.1055G>T	c.(1054-1056)aGt>aTt	p.S352I		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	352						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S352I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAAGGGGGAACTCActgccac	0.542																																																1	Substitution - Missense(1)	ovary(1)	3											45	47	46					3																	21462839		2203	4300	6503	21437843	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1055G>T	3.37:g.21462839C>A	ENSP00000281523:p.Ser352Ile		21437843		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557705	0.13436	.	.	ENSG00000151789	ENST00000281523	T	0.34275	1.37	6.08	1.17	0.20885	.	0.218563	0.48286	D	0.000189	T	0.20577	0.0495	N	0.24115	0.695	0.09310	N	1	B	0.15141	0.012	B	0.17979	0.02	T	0.13872	-1.0493	10	0.39692	T	0.17	-30.2357	6.0934	0.20007	0.0:0.1928:0.1282:0.6791	.	352	Q9H6B1	Z385D_HUMAN	I	352	ENSP00000281523:S352I	ENSP00000281523:S352I	S	-	2	0	ZNF385D	21437843	0.936000	0.31750	0.136000	0.22124	0.412000	0.31113	0.935000	0.28924	-0.025000	0.13918	0.650000	0.86243	AGT		0.542	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		A	21462839	C	A	21462839	3	1	117	1	0	0	0	0	1	0	0	0	17878	565	20	3	136	3	ZNF385D	3	21462839	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08		21462839	176559591	29	6367											
TOP2B	7155	broad.mit.edu	37	3	25665148	25665148	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr3:25665148T>C	ENST00000264331.4	-	21	2584	c.2585A>G	c.(2584-2586)tAt>tGt	p.Y862C	TOP2B_ENST00000435706.2_Missense_Mutation_p.Y857C	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	862					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.Y857C(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TATAGGAATATACCACTCAGG	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											94	86	88					3																	25665148		1872	4101	5973	25640152	SO:0001583	missense	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2585A>G	3.37:g.25665148T>C	ENSP00000264331:p.Tyr862Cys		25640152	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37		.	.	.	.	.	.	.	.	.	.	T	24.4	4.526041	0.85600	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.53206	0.63;0.63	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86061	0.1532	10	0.87932	D	0	-11.7676	16.1472	0.81578	0.0:0.0:0.0:1.0	.	857	Q02880-2	.	C	857;862;857	ENSP00000396704:Y857C;ENSP00000264331:Y862C	ENSP00000264331:Y862C	Y	-	2	0	TOP2B	25640152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.960000	0.87893	2.272000	0.75746	0.455000	0.32223	TAT		0.403	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				C	25665148	T	C	25665148	3	2	117	1	0	0	0	0	1	0	0	0	16366	1406	49	4	2359	4	TOP2B	3	25665148	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08	4202309	25665148	172357282	30	6368											
SETD2	29072	broad.mit.edu	37	3	47125871	47125871	+	Splice_Site	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr3:47125871A>T	ENST00000409792.3	-	12	5441	c.5399T>A	c.(5398-5400)aTt>aAt	p.I1800N	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1800					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.I1297N(1)|p.I1800N(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTCTTTATAATCTGATTAAA	0.348			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	ovary(2)	3											33	32	32					3																	47125871		2201	4299	6500	47100875	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5398-1T>A	3.37:g.47125871A>T			47100875	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928630	0.73327	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.91464	-2.85	4.56	4.56	0.56223	.	0.000000	0.56097	D	0.000039	D	0.93197	0.7833	L	0.53249	1.67	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	D	0.93963	0.7242	10	0.87932	D	0	.	14.3831	0.66923	1.0:0.0:0.0:0.0	.	1800;1800	F2Z317;Q9BYW2	.;SETD2_HUMAN	N	1800	ENSP00000386759:I1800N	ENSP00000386759:I1800N	I	-	2	0	SETD2	47100875	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.683000	0.91236	2.036000	0.60181	0.528000	0.53228	ATT		0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Missense_Mutation	T	47125871	A	T	47125871	5	4	117	1	0	0	0	0	0	0	1	0	14134	115	4	5	2335	5	SETD2	3	47125871	Splice_Site	SNP	A	TCGA-13-0923-01A-01W-0420-08	21460723	47125871	150896559	31	6369											
ZBTB20	26137	broad.mit.edu	37	3	114069892	114069892	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr3:114069892C>G	ENST00000474710.1	-	4	1211	c.1033G>C	c.(1033-1035)Gtg>Ctg	p.V345L	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.V272L|ZBTB20_ENST00000462705.1_Missense_Mutation_p.V272L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V272L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V272L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V272L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V272L	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	345						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.V272L(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGGATCTGCACCCTTTGCTGC	0.602																																					NSCLC(69;748 1344 9802 11203 30933)											1	Substitution - Missense(1)	ovary(1)	3											136	98	111					3																	114069892		2203	4300	6503	115552582	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1033G>C	3.37:g.114069892C>G	ENSP00000419153:p.Val345Leu		115552582	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017870	0.35606	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.99;2.94;2.94	5.28	5.28	0.74379	.	0.000000	0.52532	D	0.000061	T	0.08044	0.0201	N	0.14661	0.345	0.35043	D	0.759929	B	0.21147	0.052	B	0.22152	0.038	T	0.16660	-1.0395	10	0.49607	T	0.09	.	14.0046	0.64456	0.151:0.8489:0.0:0.0	.	345	Q9HC78	ZBT20_HUMAN	L	272;272;272;272;345;272;272	ENSP00000420324:V272L;ENSP00000377375:V272L;ENSP00000418092:V272L;ENSP00000419902:V272L;ENSP00000419153:V345L;ENSP00000349803:V272L;ENSP00000417307:V272L	ENSP00000349803:V272L	V	-	1	0	ZBTB20	115552582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.734000	0.47368	2.763000	0.94921	0.650000	0.86243	GTG		0.602	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		G	114069892	C	G	114069892	3	3	117	1	0	0	0	0	1	0	0	0	17529	507	18	3	1200	3	ZBTB20	3	114069892	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	66944021	114069892	83952538	32	6370											
GOLGB1	2804	broad.mit.edu	37	3	121410506	121410506	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr3:121410506C>A	ENST00000340645.5	-	14	7815	c.7690G>T	c.(7690-7692)Gag>Tag	p.E2564*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E2569*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2564					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E2564*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTCCAGCTCCTTATTTTGC	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	3											113	117	116					3																	121410506		2203	4300	6503	122893196	SO:0001587	stop_gained	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7690G>T	3.37:g.121410506C>A	ENSP00000341848:p.Glu2564*		122893196	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	46	12.289650	0.99654	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.25	5.25	0.73442	.	0.310848	0.28317	N	0.015796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	9.7098	0.40238	0.0:0.9086:0.0:0.0914	.	.	.	.	X	2564;2569	.	ENSP00000341848:E2564X	E	-	1	0	GOLGB1	122893196	0.003000	0.15002	0.992000	0.48379	0.374000	0.29953	0.752000	0.26362	2.717000	0.92951	0.655000	0.94253	GAG		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121410506	C	A	121410506	4	1	117	1	0	0	0	0	0	1	0	0	6565	864	30	3	2125	3	GOLGB1	3	121410506	Nonsense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	7340614	121410506	76611924	33	6371											
ACAD9	28976	broad.mit.edu	37	3	128618296	128618296	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr3:128618296G>T	ENST00000308982.7	+	7	881	c.800G>T	c.(799-801)gGc>gTc	p.G267V	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	267						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.G267V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCATTCGGGGCTCCAACAGT	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											100	98	99					3																	128618296		2203	4300	6503	130100986	SO:0001583	missense	28976			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.800G>T	3.37:g.128618296G>T	ENSP00000312618:p.Gly267Val		130100986	D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931653	0.92389	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.99060	-5.38	5.32	5.32	0.75619	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.048448	0.85682	D	0.000000	D	0.99214	0.9727	M	0.87827	2.91	0.80722	D	1	P;D;D	0.60575	0.531;0.988;0.988	P;P;P	0.60345	0.594;0.807;0.873	D	0.99274	1.0894	10	0.72032	D	0.01	.	16.484	0.84179	0.0:0.0:1.0:0.0	.	144;217;267	Q9H9W4;Q59FN3;Q9H845	.;.;ACAD9_HUMAN	V	267;134	ENSP00000312618:G267V	ENSP00000312618:G267V	G	+	2	0	ACAD9	130100986	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	9.293000	0.96082	2.499000	0.84300	0.655000	0.94253	GGC		0.493	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		T	128618296	G	T	128618296	3	4	117	1	0	0	0	0	1	0	0	0	111	1203	42	3	826	3	ACAD9	3	128618296	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	7207790	128618296	69404134	34	6372											
PLSCR1	5359	broad.mit.edu	37	3	146233888	146233888	+	Splice_Site	SNP	C	C	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr3:146233888C>G	ENST00000342435.4	-	9	1311	c.901G>C	c.(901-903)Gac>Cac	p.D301H	PLSCR1_ENST00000448205.1_Splice_Site_p.D13H|PLSCR1_ENST00000448787.2_Splice_Site_p.D220H|PLSCR1_ENST00000487389.1_Splice_Site_p.D294H|PLSCR1_ENST00000484560.1_5'Flank	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	301					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)	p.D301H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						AACATGAAGTCCTAGATAAAA	0.348																																																1	Substitution - Missense(1)	ovary(1)	3											82	83	83					3																	146233888		2203	4300	6503	147716578	SO:0001630	splice_region_variant	5359			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.901-1G>C	3.37:g.146233888C>G			147716578	B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	CCDS3135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.32|12.32	1.901416|1.901416	0.33535|0.33535	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000342435;ENST00000448205;ENST00000487389;ENST00000448787|ENST00000483300	T;T;T;T|.	0.57436|.	0.4;0.4;0.4;0.4|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.36101|.	U|.	0.002795|.	T|T	0.81394|0.81394	0.4813|0.4813	H|H	0.94264|0.94264	3.515|3.515	0.29307|0.29307	N|N	0.868318|0.868318	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.992;0.998|.	T|T	0.80714|0.80714	-0.1259|-0.1259	10|5	0.87932|.	D|.	0|.	.|.	16.6974|16.6974	0.85339|0.85339	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	220;301|.	B4DTE8;O15162|.	.;PLS1_HUMAN|.	H|F	301;13;294;220|167	ENSP00000345494:D301H;ENSP00000414653:D13H;ENSP00000417792:D294H;ENSP00000411675:D220H|.	ENSP00000345494:D301H|.	D|L	-|-	1|3	0|2	PLSCR1|PLSCR1	147716578|147716578	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.121000|0.121000	0.20230|0.20230	6.097000|6.097000	0.71452|0.71452	2.352000|2.352000	0.79861|0.79861	0.655000|0.655000	0.94253|0.94253	GAC|TTG		0.348	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105	Missense_Mutation	G	146233888	C	G	146233888	5	3	117	1	0	0	0	0	0	0	1	0	12109	869	30	3	59	3	PLSCR1	3	146233888	Splice_Site	SNP	C	TCGA-13-0923-01A-01W-0420-08	17615592	146233888	51788542	35	6373											
CLNK	116449	broad.mit.edu	37	4	10573381	10573381	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr4:10573381T>C	ENST00000226951.6	-	5	373	c.134A>G	c.(133-135)aAg>aGg	p.K45R	CLNK_ENST00000442825.2_Missense_Mutation_p.K3R|CLNK_ENST00000507719.1_Missense_Mutation_p.K3R	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	45					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)	p.K45R(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TAGAAGAGGCTTGTTCATCCT	0.403																																					GBM(87;402 1286 6949 13902 35851)											1	Substitution - Missense(1)	ovary(1)	4											57	58	58					4																	10573381		1853	4101	5954	10182479	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.134A>G	4.37:g.10573381T>C	ENSP00000226951:p.Lys45Arg		10182479	Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.253942	0.22965	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.46451	1.88;0.87;0.87	3.9	2.67	0.31697	.	2.861140	0.01338	N	0.011470	T	0.31071	0.0785	N	0.14661	0.345	0.09310	N	1	B;B	0.19583	0.027;0.037	B;B	0.19391	0.025;0.011	T	0.29274	-1.0017	10	0.72032	D	0.01	-10.9552	7.3114	0.26477	0.0:0.0:0.2248:0.7752	.	3;45	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	R	45;45;3;3	ENSP00000226951:K45R;ENSP00000390744:K3R;ENSP00000427208:K3R	ENSP00000226951:K45R	K	-	2	0	CLNK	10182479	0.066000	0.20996	0.059000	0.19551	0.006000	0.05464	1.568000	0.36418	0.807000	0.34208	0.460000	0.39030	AAG		0.403	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		C	10573381	T	C	10573381	3	2	117	1	0	0	0	0	1	0	0	0	3547	1609	56	4	1212	4	CLNK	4	10573381	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08		10573381	180580895	36	6374											
HERC5	51191	broad.mit.edu	37	4	89415416	89415416	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr4:89415416T>G	ENST00000264350.3	+	18	2531	c.2378T>G	c.(2377-2379)tTt>tGt	p.F793C	HERC5_ENST00000508159.1_Missense_Mutation_p.F431C|AC083829.1_ENST00000408152.2_RNA	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	793	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.F793C(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CTGGCACTGTTTAAGAAACTT	0.398																																					Esophageal Squamous(39;887 1012 34045 50514)											1	Substitution - Missense(1)	ovary(1)	4											94	98	97					4																	89415416		2203	4300	6503	89634439	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2378T>G	4.37:g.89415416T>G	ENSP00000264350:p.Phe793Cys		89634439	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.432934	0.62844	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.47177	0.85;0.85	4.47	4.47	0.54385	HECT (4);	0.000000	0.56097	D	0.000036	T	0.71484	0.3345	M	0.89478	3.035	0.31145	N	0.706168	D	0.89917	1.0	D	0.87578	0.998	T	0.76997	-0.2751	10	0.87932	D	0	.	12.0278	0.53382	0.0:0.0:0.0:1.0	.	793	Q9UII4	HERC5_HUMAN	C	793;431	ENSP00000264350:F793C;ENSP00000424129:F431C	ENSP00000264350:F793C	F	+	2	0	HERC5	89634439	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.343000	0.33930	2.003000	0.58678	0.397000	0.26171	TTT		0.398	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		G	89415416	T	G	89415416	3	3	117	1	0	0	0	0	1	0	0	0	7061	1841	64	5	2448	5	HERC5	4	89415416	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08	78842035	89415416	101738860	37	6375											
DDX60	55601	broad.mit.edu	37	4	169206560	169206560	+	Silent	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr4:169206560A>G	ENST00000393743.3	-	11	1720	c.1429T>C	c.(1429-1431)Ttg>Ctg	p.L477L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	477					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.L477L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAAAAGGCAAATCTTTCAAA	0.358																																																2	Substitution - coding silent(2)	ovary(2)	4											55	53	54					4																	169206560		2203	4300	6503	169443135	SO:0001819	synonymous_variant	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1429T>C	4.37:g.169206560A>G			169443135	Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	CCDS34097.1																																																																																				0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		G	169206560	A	G	169206560	2	3	117	1	0	0	0	0	0	0	0	1	4378	11	1	4		4	DDX60	4	169206560	Silent	SNP	A	TCGA-13-0923-01A-01W-0420-08	79791144	169206560	21947716	38	6376											
SLC45A2	51151	broad.mit.edu	37	5	33964006	33964006	+	Silent	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr5:33964006G>A	ENST00000296589.4	-	3	824	c.678C>T	c.(676-678)ctC>ctT	p.L226L	SLC45A2_ENST00000382102.3_Silent_p.L226L|SLC45A2_ENST00000342059.3_Silent_p.L167L|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	226					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L226L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AACACAAAGTGAGCACCAATG	0.502																																					Ovarian(31;380 859 8490 22203 49048)											1	Substitution - coding silent(1)	ovary(1)	5											115	114	114					5																	33964006		2203	4300	6503	33999763	SO:0001819	synonymous_variant	51151			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.678C>T	5.37:g.33964006G>A			33999763	Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	CCDS3901.1																																																																																				0.502	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		A	33964006	G	A	33964006	2	1	117	1	0	0	0	0	0	0	0	1	14644	1277	45	2		2	SLC45A2	5	33964006	Silent	SNP	G	TCGA-13-0923-01A-01W-0420-08		33964006	146951254	39	6377											
GPR98	84059	broad.mit.edu	37	5	89990498	89990498	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr5:89990498A>T	ENST00000405460.2	+	33	8021	c.7925A>T	c.(7924-7926)gAg>gTg	p.E2642V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2642	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E2642V(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGCTGGAGAGATTCTGACC	0.413																																																1	Substitution - Missense(1)	ovary(1)	5											78	82	81					5																	89990498		1942	4130	6072	90026254	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7925A>T	5.37:g.89990498A>T	ENSP00000384582:p.Glu2642Val		90026254	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.48|18.48	3.633192|3.633192	0.67015|0.67015	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27104|.	1.69|.	5.51|5.51	4.34|4.34	0.51931|0.51931	Na-Ca exchanger/integrin-beta4 (2);|.	0.378209|.	0.35407|.	N|.	0.003223|.	T|.	0.58652|.	0.2137|.	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	P;P|.	0.38565|.	0.637;0.484|.	P;P|.	0.49502|.	0.511;0.613|.	T|.	0.54549|.	-0.8277|.	10|.	0.62326|.	D|.	0.03|.	.|.	11.7439|11.7439	0.51809|0.51809	0.9301:0.0:0.0699:0.0|0.9301:0.0:0.0699:0.0	.|.	2642;2642|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	V|X	2642|208	ENSP00000384582:E2642V|.	ENSP00000296619:E2642V|.	E|R	+|+	2|1	0|2	GPR98|GPR98	90026254|90026254	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.944000|0.944000	0.59088|0.59088	5.069000|5.069000	0.64370|0.64370	1.006000|1.006000	0.39211|0.39211	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89990498	A	T	89990498	3	4	117	1	0	0	0	0	1	0	0	0	6721	304	11	5	8055	5	GPR98	5	89990498	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	56026492	89990498	90924762	40	6378											
LNPEP	4012	broad.mit.edu	37	5	96333740	96333740	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr5:96333740G>T	ENST00000231368.5	+	8	2236	c.1544G>T	c.(1543-1545)cGa>cTa	p.R515L	LNPEP_ENST00000395770.3_Missense_Mutation_p.R501L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	515					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R515L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTAGATGCTCGATTTAAAACC	0.279																																																1	Substitution - Missense(1)	ovary(1)	5											77	85	82					5																	96333740		2203	4292	6495	96359496	SO:0001583	missense	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1544G>T	5.37:g.96333740G>T	ENSP00000231368:p.Arg515Leu		96359496	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307744	0.81247	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.02579	4.24;4.24	6.17	5.3	0.74995	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.114883	0.56097	D	0.000024	T	0.01976	0.0062	N	0.05534	-0.03	0.58432	D	0.999992	B	0.18863	0.031	B	0.24701	0.055	T	0.57946	-0.7723	10	0.18710	T	0.47	.	10.987	0.47528	0.0679:0.0:0.8021:0.13	.	515	Q9UIQ6	LCAP_HUMAN	L	515;501	ENSP00000231368:R515L;ENSP00000379117:R501L	ENSP00000231368:R515L	R	+	2	0	LNPEP	96359496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.500000	0.53318	1.616000	0.50265	0.655000	0.94253	CGA		0.279	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		T	96333740	G	T	96333740	3	4	117	1	0	0	0	0	1	0	0	0	8864	1058	37	3	1574	3	LNPEP	5	96333740	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	6343242	96333740	84581520	41	6379											
SLCO6A1	133482	broad.mit.edu	37	5	101755550	101755550	+	Silent	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr5:101755550C>T	ENST00000506729.1	-	8	1623	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.G422G|SLCO6A1_ENST00000379807.3_Silent_p.G484G|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	484						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G484G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTCATTGATCCCAGCAAATT	0.318																																																1	Substitution - coding silent(1)	ovary(1)	5											103	109	107					5																	101755550		2203	4300	6503	101783449	SO:0001819	synonymous_variant	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1452G>A	5.37:g.101755550C>T			101783449	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	CCDS34206.1																																																																																				0.318	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		T	101755550	C	T	101755550	2	4	117	1	0	0	0	0	0	0	0	1	14735	842	30	2		2	SLCO6A1	5	101755550	Silent	SNP	C	TCGA-13-0923-01A-01W-0420-08	5421810	101755550	79159710	42	6380											
ITK	3702	broad.mit.edu	37	5	156668715	156668715	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr5:156668715G>T	ENST00000422843.3	+	11	1197	c.1045G>T	c.(1045-1047)Gca>Tca	p.A349S	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	349					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.A349S(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCCAGTTACAGCAGGGCTGAG	0.493			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - Missense(1)	ovary(1)	5											79	67	71					5																	156668715		2203	4300	6503	156601293	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1045G>T	5.37:g.156668715G>T	ENSP00000398655:p.Ala349Ser		156601293	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562505	0.45694	.	.	ENSG00000113263	ENST00000422843	T	0.75367	-0.93	6.08	6.08	0.98989	Protein kinase-like domain (1);	0.219510	0.47455	D	0.000238	T	0.76478	0.3993	M	0.69823	2.125	0.53005	D	0.999963	B	0.11235	0.004	B	0.09377	0.004	T	0.71481	-0.4580	10	0.72032	D	0.01	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	349	Q08881	ITK_HUMAN	S	349	ENSP00000398655:A349S	ENSP00000398655:A349S	A	+	1	0	ITK	156601293	1.000000	0.71417	0.979000	0.43373	0.052000	0.14988	8.161000	0.89655	2.894000	0.99253	0.655000	0.94253	GCA		0.493	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			T	156668715	G	T	156668715	3	4	117	1	0	0	0	0	1	0	0	0	7909	971	34	3	1087	3	ITK	5	156668715	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	54913165	156668715	24246545	43	6381											
ODZ2	57451	broad.mit.edu	37	5	167653236	167653236	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr5:167653236C>A	ENST00000518659.1	+	24	5291	c.5252C>A	c.(5251-5253)tCt>tAt	p.S1751Y	TENM2_ENST00000519204.1_Missense_Mutation_p.S1630Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S1750Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S1575Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S1512Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1751					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S1584Y(1)									ACCAACCTCTCTTCAGTAGAG	0.522																																																1	Substitution - Missense(1)	ovary(1)	5											60	62	61					5																	167653236		2022	4176	6198	167585814	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5252C>A	5.37:g.167653236C>A	ENSP00000429430:p.Ser1751Tyr		167585814	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	24.1	4.494085	0.85069	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.21;-2.2;-2.32;-2.65;-2.69	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.95589	0.8566	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.999;0.992	D	0.95497	0.8574	10	0.56958	D	0.05	.	19.1283	0.93394	0.0:1.0:0.0:0.0	.	1750;1751;1512	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Y	1751;1750;1630;1512;1575	ENSP00000429430:S1751Y;ENSP00000438635:S1750Y;ENSP00000428964:S1630Y;ENSP00000427874:S1512Y;ENSP00000384905:S1575Y	ENSP00000384905:S1575Y	S	+	2	0	ODZ2	167585814	1.000000	0.71417	0.919000	0.36401	0.835000	0.47333	7.818000	0.86416	2.543000	0.85770	0.555000	0.69702	TCT		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167653236	C	A	167653236	3	1	117	1	0	0	0	0	1	0	0	0	10835	913	32	3	5319	3	ODZ2	5	167653236	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	10984521	167653236	13262024	44	6382											
RMND5B	64777	broad.mit.edu	37	5	177571013	177571013	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr5:177571013C>G	ENST00000515098.1	+	8	949	c.598C>G	c.(598-600)Cac>Gac	p.H200D	RMND5B_ENST00000542098.1_Missense_Mutation_p.H187D|RMND5B_ENST00000313386.4_Missense_Mutation_p.H200D			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	200	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.							p.H200D(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACCGACTGCACTTCATCCG	0.627																																																1	Substitution - Missense(1)	ovary(1)	5											62	66	65					5																	177571013		2203	4300	6503	177503619	SO:0001583	missense	64777			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.598C>G	5.37:g.177571013C>G	ENSP00000420875:p.His200Asp		177503619	Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535267	0.45176	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.3	3.43	0.39272	CTLH, C-terminal LisH motif (2);	0.376195	0.30949	N	0.008556	T	0.47746	0.1462	L	0.51422	1.61	0.36864	D	0.888557	P;P;B	0.44344	0.833;0.799;0.27	P;B;B	0.45971	0.499;0.366;0.281	T	0.52495	-0.8568	9	0.40728	T	0.16	-9.2957	6.4456	0.21875	0.0:0.7835:0.0:0.2165	.	187;187;200	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	D	200;200;187	.	ENSP00000320623:H200D	H	+	1	0	RMND5B	177503619	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.053000	0.41326	1.020000	0.39573	0.313000	0.20887	CAC		0.627	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		G	177571013	C	G	177571013	3	3	117	1	0	0	0	0	1	0	0	0	13401	710	25	3	616	3	RMND5B	5	177571013	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	9917777	177571013	3344247	45	6383											
ZNF354B	117608	broad.mit.edu	37	5	178311066	178311066	+	Missense_Mutation	SNP	T	T	A	rs183547942	byFrequency	TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr5:178311066T>A	ENST00000322434.3	+	5	1839	c.1613T>A	c.(1612-1614)aTa>aAa	p.I538K	ZNF354B_ENST00000522714.1_3'UTR|RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	538					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.I538K(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCTCTTATACAACATCAG	0.358																																																1	Substitution - Missense(1)	ovary(1)	5											92	85	88					5																	178311066		2203	4300	6503	178243672	SO:0001583	missense	117608			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1613T>A	5.37:g.178311066T>A	ENSP00000327143:p.Ile538Lys		178243672	A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	T	7.957	0.746111	0.15710	.	.	ENSG00000178338	ENST00000322434	T	0.44482	0.92	3.52	-0.521	0.11931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18045	0.0433	N	0.05078	-0.115	0.09310	N	0.999998	B	0.10296	0.003	B	0.14578	0.011	T	0.17561	-1.0365	9	0.40728	T	0.16	-12.4976	3.0377	0.06128	0.1943:0.3419:0.0:0.4638	.	538	Q96LW1	Z354B_HUMAN	K	538	ENSP00000327143:I538K	ENSP00000327143:I538K	I	+	2	0	ZNF354B	178243672	0.000000	0.05858	0.956000	0.39512	0.094000	0.18550	0.138000	0.16016	0.027000	0.15297	0.454000	0.30748	ATA		0.358	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		A	178311066	T	A	178311066	3	1	117	1	0	0	0	0	1	0	0	0	17865	1406	49	5	1627	5	ZNF354B	5	178311066	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08	740053	178311066	2604194	46	6384											
BAT1	7919	broad.mit.edu	37	6	31508234	31508234	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr6:31508234C>T	ENST00000396172.1	-	2	706	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	DDX39B_ENST00000415382.2_Missense_Mutation_p.M21I|DDX39B_ENST00000458640.1_Missense_Mutation_p.G26R|DDX39B_ENST00000376177.2_Missense_Mutation_p.G26R|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000417556.2_Missense_Mutation_p.G26R|DDX39B-AS1_ENST00000420520.1_RNA|SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000453105.2_Missense_Mutation_p.M21I|DDX39B_ENST00000449074.2_Missense_Mutation_p.G26R|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	26					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.G26R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCCTCAGCCCCATCTCCCCCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											86	80	82					6																	31508234		2203	4300	6503	31616213	SO:0001583	missense	7919			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.76G>A	6.37:g.31508234C>T	ENSP00000379475:p.Gly26Arg		31616213	B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.219435|4.219435	0.79464|0.79464	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000427214;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000449074;ENST00000428450;ENST00000449757;ENST00000456976;ENST00000418897;ENST00000419020;ENST00000458215|ENST00000415382;ENST00000431908;ENST00000453105	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T;T;T	0.46819|0.43688	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86|0.94;2.61;3.44	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.066314|.	0.56097|.	D|.	0.000021|.	T|T	0.26991|0.26991	0.0661|0.0661	L|L	0.58510|0.58510	1.815|1.815	0.53688|0.53688	D|D	0.999972|0.999972	B;B;B|B;B;B	0.27264|0.27853	0.157;0.0;0.173|0.001;0.191;0.0	B;B;B|B;B;B	0.28916|0.10450	0.096;0.001;0.067|0.001;0.005;0.0	T|T	0.10636|0.10636	-1.0621|-1.0621	10|9	0.48119|0.52906	T|T	0.1|0.07	-19.6861|-19.6861	14.9572|14.9572	0.71124|0.71124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	46;26;26|21;21;21	Q59G92;Q13838;Q5STU3|B4DIZ8;B4DIJ6;B4DP52	.;DX39B_HUMAN;.|.;.;.	R|I	26;26;26;26;26;26;26;26;26;26;49;26;41;26;26|21	ENSP00000365347:G26R;ENSP00000416269:G26R;ENSP00000379475:G26R;ENSP00000412582:G26R;ENSP00000399371:G26R;ENSP00000392672:G26R;ENSP00000410313:G26R;ENSP00000416350:G26R;ENSP00000391946:G26R;ENSP00000405707:G26R;ENSP00000409426:G49R;ENSP00000393984:G26R;ENSP00000399841:G41R;ENSP00000405245:G26R|ENSP00000392669:M21I;ENSP00000408000:M21I;ENSP00000400328:M21I	ENSP00000365347:G26R|ENSP00000392669:M21I	G|M	-|-	1|3	0|0	DDX39B|DDX39B	31616213|31616213	0.936000|0.936000	0.31750|0.31750	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.525000|5.525000	0.67110|0.67110	2.592000|2.592000	0.87571|0.87571	0.563000|0.563000	0.77884|0.77884	GGG|ATG		0.577	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		T	31508234	C	T	31508234	3	4	117	1	0	0	0	0	1	0	0	0	1318	594	21	2	1250	2	BAT1	6	31508234	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08		31508234	139606833	47	6385											
TBX18	9096	broad.mit.edu	37	6	85447043	85447043	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr6:85447043C>A	ENST00000369663.5	-	8	1521	c.1184G>T	c.(1183-1185)tGc>tTc	p.C395F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	395					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.C395F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGGAGAGGAGCAAGAGGAGCC	0.572																																																1	Substitution - Missense(1)	ovary(1)	6											75	77	77					6																	85447043		2203	4300	6503	85503762	SO:0001583	missense	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1184G>T	6.37:g.85447043C>A	ENSP00000358677:p.Cys395Phe		85503762	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262309	0.59431	.	.	ENSG00000112837	ENST00000369663	D	0.92752	-3.1	5.36	5.36	0.76844	.	0.504726	0.25009	N	0.033844	D	0.90359	0.6983	L	0.34521	1.04	0.80722	D	1	D	0.58970	0.984	P	0.56343	0.796	D	0.88520	0.3095	10	0.27082	T	0.32	.	19.072	0.93143	0.0:1.0:0.0:0.0	.	395	O95935	TBX18_HUMAN	F	395	ENSP00000358677:C395F	ENSP00000358677:C395F	C	-	2	0	TBX18	85503762	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.153000	0.77428	2.511000	0.84671	0.585000	0.79938	TGC		0.572	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		A	85447043	C	A	85447043	3	1	117	1	0	0	0	0	1	0	0	0	15653	710	25	3	643	3	TBX18	6	85447043	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	53938809	85447043	85668024	48	6386											
EPHA7	2045	broad.mit.edu	37	6	93982019	93982019	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr6:93982019C>A	ENST00000369303.4	-	6	1630	c.1446G>T	c.(1444-1446)gaG>gaT	p.E482D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	482	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E482D(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CACTTACTTTCTCGTAATACT	0.418																																																1	Substitution - Missense(1)	ovary(1)	6											303	270	281					6																	93982019		2203	4300	6503	94038740	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1446G>T	6.37:g.93982019C>A	ENSP00000358309:p.Glu482Asp		94038740	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641394	0.67244	.	.	ENSG00000135333	ENST00000369303	T	0.58506	0.33	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73401	0.3582	M	0.76727	2.345	0.58432	D	0.999994	D;D;D	0.89917	0.974;1.0;1.0	D;D;D	0.77004	0.953;0.981;0.989	T	0.74526	-0.3636	10	0.62326	D	0.03	.	19.7279	0.96172	0.0:1.0:0.0:0.0	.	482;482;482	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	D	482	ENSP00000358309:E482D	ENSP00000358309:E482D	E	-	3	2	EPHA7	94038740	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.604000	0.54081	2.750000	0.94351	0.561000	0.74099	GAG		0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			A	93982019	C	A	93982019	3	1	117	1	0	0	0	0	1	0	0	0	5172	912	32	3	1598	3	EPHA7	6	93982019	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	8534976	93982019	77133048	49	6387											
MCHR2	84539	broad.mit.edu	37	6	100368898	100368898	+	Missense_Mutation	SNP	T	T	C	rs369501589		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr6:100368898T>C	ENST00000281806.2	-	6	1255	c.941A>G	c.(940-942)cAg>cGg	p.Q314R	MCHR2_ENST00000369212.2_Missense_Mutation_p.Q314R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q314R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGACGTTTCTGGAAATTTCC	0.438																																																1	Substitution - Missense(1)	ovary(1)	6											136	140	139					6																	100368898		2203	4300	6503	100475619	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.941A>G	6.37:g.100368898T>C	ENSP00000281806:p.Gln314Arg		100475619	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	T	0.433	-0.902615	0.02453	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.20881	2.04;2.04;2.04	5.47	1.7	0.24286	.	0.312029	0.24793	N	0.035557	T	0.02083	0.0065	N	0.08118	0	0.24909	N	0.992054	B	0.02656	0.0	B	0.01281	0.0	T	0.46952	-0.9154	10	0.06625	T	0.88	.	8.7748	0.34756	0.0:0.6747:0.0:0.3253	.	314	Q969V1	MCHR2_HUMAN	R	314	ENSP00000403490:Q314R;ENSP00000281806:Q314R;ENSP00000358214:Q314R	ENSP00000281806:Q314R	Q	-	2	0	MCHR2	100475619	0.871000	0.30034	0.989000	0.46669	0.565000	0.35776	0.130000	0.15850	0.019000	0.15079	-0.242000	0.12053	CAG		0.438	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		C	100368898	T	C	100368898	3	2	117	1	0	0	0	0	1	0	0	0	9383	1580	55	4	85	4	MCHR2	6	100368898	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08	6386879	100368898	70746169	50	6388											
LAMA4	3910	broad.mit.edu	37	6	112506504	112506504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr6:112506504G>A	ENST00000230538.7	-	9	1409	c.1012C>T	c.(1012-1014)Caa>Taa	p.Q338*	LAMA4_ENST00000389463.4_Nonsense_Mutation_p.Q331*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.Q331*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.Q331*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	338	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.Q331*(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGTTGATTTGTATCTTTCTT	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	6											369	297	321					6																	112506504		2203	4300	6503	112613197	SO:0001587	stop_gained	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1012C>T	6.37:g.112506504G>A	ENSP00000230538:p.Gln338*		112613197	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.824638|7.824638	0.98510|0.98510	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881|ENST00000521732	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.317949|.	0.34676|.	N|.	0.003777|.	.|T	.|0.65903	.|0.2736	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63559	.|-0.6610	.|4	0.36615|.	T|.	0.2|.	.|.	16.5213|16.5213	0.84317|0.84317	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	338;331;331;331;338|150	.|.	ENSP00000230538:Q338X|.	Q|T	-|-	1|2	0|0	LAMA4|LAMA4	112613197|112613197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.184000|5.184000	0.65070|0.65070	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.378	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		A	112506504	G	A	112506504	4	1	117	1	0	0	0	0	0	1	0	0	8608	1386	48	2	4583	2	LAMA4	6	112506504	Nonsense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	12137606	112506504	58608563	51	6389											
SP4	6671	broad.mit.edu	37	7	21469947	21469947	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr7:21469947T>A	ENST00000222584.3	+	3	1382	c.1164T>A	c.(1162-1164)gaT>gaA	p.D388E		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	388					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D388E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATGCACAGGATCAATCAAATT	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											90	87	88					7																	21469947		2203	4300	6503	21436472	SO:0001583	missense	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1164T>A	7.37:g.21469947T>A	ENSP00000222584:p.Asp388Glu		21436472	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.301657	0.01353	.	.	ENSG00000105866	ENST00000222584	T	0.08282	3.11	4.85	-2.46	0.06461	.	0.259984	0.43747	N	0.000521	T	0.02012	0.0063	N	0.03608	-0.345	0.33937	D	0.642835	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	10	0.05959	T	0.93	.	2.8679	0.05607	0.1986:0.069:0.3177:0.4146	.	388	Q02446	SP4_HUMAN	E	388	ENSP00000222584:D388E	ENSP00000222584:D388E	D	+	3	2	SP4	21436472	0.773000	0.28580	0.998000	0.56505	0.930000	0.56654	-0.296000	0.08287	-0.008000	0.14320	-0.435000	0.05868	GAT		0.473	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		A	21469947	T	A	21469947	3	1	117	1	0	0	0	0	1	0	0	0	14969	1432	50	5	1174	5	SP4	7	21469947	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08		21469947	137668716	52	6390											
HERPUD2	64224	broad.mit.edu	37	7	35674922	35674922	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr7:35674922T>C	ENST00000396081.1	-	6	1568	c.764A>G	c.(763-765)gAg>gGg	p.E255G	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.E255G	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	255					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E255G(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TTGAACATTCTCATTCATGGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											218	211	213					7																	35674922		2203	4300	6503	35641447	SO:0001583	missense	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.764A>G	7.37:g.35674922T>C	ENSP00000379390:p.Glu255Gly		35641447	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.862098	0.51482	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.17213	2.29;2.29	5.96	4.86	0.63082	.	0.368409	0.33057	N	0.005340	T	0.10423	0.0255	N	0.14661	0.345	0.30565	N	0.764103	B	0.29716	0.255	B	0.26614	0.071	T	0.08973	-1.0696	10	0.25751	T	0.34	-13.1199	13.9622	0.64188	0.0:0.0:0.2221:0.7779	.	255	Q9BSE4	HERP2_HUMAN	G	255	ENSP00000379390:E255G;ENSP00000310729:E255G	ENSP00000310729:E255G	E	-	2	0	HERPUD2	35641447	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	0.726000	0.25984	2.285000	0.76669	0.533000	0.62120	GAG		0.473	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		C	35674922	T	C	35674922	3	2	117	1	0	0	0	0	1	0	0	0	7064	1551	54	4	468	4	HERPUD2	7	35674922	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08	14204975	35674922	123463741	53	6391											
PKD1L1	168507	broad.mit.edu	37	7	47851485	47851485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr7:47851485G>T	ENST00000289672.2	-	50	7561	c.7511C>A	c.(7510-7512)tCa>tAa	p.S2504*	C7orf69_ENST00000418326.2_Intron|PKD1L1_ENST00000462350.1_5'Flank|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2504					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S2504*(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACCAGGGATGAGGGGACGAG	0.592																																																1	Substitution - Nonsense(1)	ovary(1)	7											63	52	56					7																	47851485		2203	4300	6503	47818010	SO:0001587	stop_gained	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7511C>A	7.37:g.47851485G>T	ENSP00000289672:p.Ser2504*		47818010	Q6UWK1	Nonsense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886816	0.51908	.	.	ENSG00000158683	ENST00000289672	.	.	.	5.3	5.3	0.74995	.	0.088631	0.44688	D	0.000432	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1399	16.4477	0.83947	0.0:0.0:1.0:0.0	.	.	.	.	X	2504	.	ENSP00000289672:S2504X	S	-	2	0	PKD1L1	47818010	0.976000	0.34144	0.398000	0.26321	0.048000	0.14542	4.926000	0.63433	2.481000	0.83766	0.453000	0.30009	TCA		0.592	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47851485	G	T	47851485	4	4	117	1	0	0	0	0	0	1	0	0	11964	1294	45	3	1070	3	PKD1L1	7	47851485	Nonsense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	12176563	47851485	111287178	54	6392											
SEMA3E	9723	broad.mit.edu	37	7	83119492	83119492	+	Missense_Mutation	SNP	C	C	G	rs371960755		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr7:83119492C>G	ENST00000307792.3	-	2	681	c.214G>C	c.(214-216)Gtg>Ctg	p.V72L	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V12L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	72	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.V72L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTGCCTCCCACGAAGAGCCTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	7						C	LEU/VAL,LEU/VAL	0,4406		0,0,2203	85	80	81		34,214	4.1	1	7		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SEMA3E	NM_001178129.1,NM_012431.2	32,32	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	12/716,72/776	83119492	1,13005	2203	4300	6503	82957428	SO:0001583	missense	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.214G>C	7.37:g.83119492C>G	ENSP00000303212:p.Val72Leu		82957428	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148665	0.37923	0.0	1.16E-4	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.24538	1.85;1.85;1.85	5.92	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.378221	0.27654	N	0.018406	T	0.19725	0.0474	L	0.31526	0.94	0.40564	D	0.981234	B	0.12013	0.005	B	0.22880	0.042	T	0.03818	-1.1001	10	0.36615	T	0.2	.	11.4178	0.49962	0.0:0.7898:0.142:0.0681	.	72	O15041	SEM3E_HUMAN	L	72;12;72;12	ENSP00000303212:V72L;ENSP00000405052:V12L;ENSP00000412867:V12L	ENSP00000303212:V72L	V	-	1	0	SEMA3E	82957428	0.835000	0.29415	0.989000	0.46669	0.961000	0.63080	1.303000	0.33470	0.805000	0.34159	0.585000	0.79938	GTG		0.408	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		G	83119492	C	G	83119492	3	3	117	1	0	0	0	0	1	0	0	0	14031	536	19	3	2177	3	SEMA3E	7	83119492	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	35268007	83119492	76019171	55	6393											
ZNF804B	219578	broad.mit.edu	37	7	88964351	88964351	+	Silent	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr7:88964351C>A	ENST00000333190.4	+	4	2664	c.2055C>A	c.(2053-2055)acC>acA	p.T685T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	685							metal ion binding (GO:0046872)	p.T685T(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAGCATGACCAGCAAGGTTT	0.448										HNSCC(36;0.09)																																						1	Substitution - coding silent(1)	ovary(1)	7											80	77	78					7																	88964351		2203	4300	6503	88802287	SO:0001819	synonymous_variant	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2055C>A	7.37:g.88964351C>A			88802287	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	CCDS5613.1																																																																																				0.448	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		A	88964351	C	A	88964351	2	1	117	1	0	0	0	0	0	0	0	1	18171	581	21	3		3	ZNF804B	7	88964351	Silent	SNP	C	TCGA-13-0923-01A-01W-0420-08	5844859	88964351	70174312	56	6394											
CCDC136	64753	broad.mit.edu	37	7	128452773	128452773	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr7:128452773A>T	ENST00000297788.4	+	14	2920	c.2553A>T	c.(2551-2553)gaA>gaT	p.E851D	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	851						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.E851D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTTTGAGGAAATGGTTGTGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	7											38	38	38					7																	128452773		1969	4144	6113	128240009	SO:0001583	missense	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2553A>T	7.37:g.128452773A>T	ENSP00000297788:p.Glu851Asp		128240009	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.32|10.32	1.318570|1.318570	0.23994|0.23994	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T;T|.	0.47177|.	0.85;0.85|.	5.08|5.08	-8.1|-8.1	0.01086|0.01086	.|.	0.694331|.	0.14125|.	N|.	0.339758|.	T|T	0.11196|0.11196	0.0273|0.0273	N|N	0.05012|0.05012	-0.13|-0.13	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12630|.	0.006;0.001;0.002|.	B;B;B|.	0.16722|.	0.016;0.003;0.004|.	T|T	0.20338|0.20338	-1.0278|-1.0278	10|5	0.16896|.	T|.	0.51|.	-0.0255|-0.0255	3.3127|3.3127	0.07022|0.07022	0.2198:0.4187:0.2641:0.0974|0.2198:0.4187:0.2641:0.0974	.|.	851;851;851|.	Q96JN2-4;Q96JN2-2;Q96JN2|.	.;.;CC136_HUMAN|.	D|I	851;851;851;442|728	ENSP00000297788:E851D;ENSP00000417991:E442D|.	ENSP00000297788:E851D|.	E|K	+|+	3|2	2|0	CCDC136|CCDC136	128240009|128240009	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.038000|0.038000	0.13279|0.13279	-3.017000|-3.017000	0.00644|0.00644	-1.222000|-1.222000	0.02587|0.02587	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.562	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		T	128452773	A	T	128452773	3	4	117	1	0	0	0	0	1	0	0	0	2770	11	1	5	2607	5	CCDC136	7	128452773	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	39488422	128452773	30685890	57	6395											
CNTNAP2	26047	broad.mit.edu	37	7	147600767	147600767	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr7:147600767A>T	ENST00000361727.3	+	14	2725	c.2209A>T	c.(2209-2211)Aca>Tca	p.T737S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	737	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.T737S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACGCAACTGCACAGATCCCAA	0.567										HNSCC(39;0.1)																																						1	Substitution - Missense(1)	ovary(1)	7											73	60	64					7																	147600767		2203	4300	6503	147231700	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2209A>T	7.37:g.147600767A>T	ENSP00000354778:p.Thr737Ser		147231700	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093485	0.56075	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.13420	2.59;2.59	5.7	5.7	0.88788	.	0.125328	0.52532	D	0.000071	T	0.11196	0.0273	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.10660	-1.0620	10	0.35671	T	0.21	.	14.8022	0.69924	1.0:0.0:0.0:0.0	.	737	Q9UHC6	CNTP2_HUMAN	S	737;128	ENSP00000354778:T737S;ENSP00000392208:T128S	ENSP00000354778:T737S	T	+	1	0	CNTNAP2	147231700	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	4.869000	0.63028	2.181000	0.69327	0.460000	0.39030	ACA		0.567	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147600767	A	T	147600767	3	4	117	1	0	0	0	0	1	0	0	0	3647	159	6	5	2263	5	CNTNAP2	7	147600767	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	19147994	147600767	11537896	58	6396											
LZTS1	11178	broad.mit.edu	37	8	20110429	20110429	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr8:20110429A>T	ENST00000381569.1	-	3	1370	c.1013T>A	c.(1012-1014)cTt>cAt	p.L338H	LZTS1_ENST00000265801.6_Missense_Mutation_p.L338H|LZTS1_ENST00000522290.1_Missense_Mutation_p.L338H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	338					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L338H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CTCCTGCTGAAGCTGCAGTAC	0.647																																																1	Substitution - Missense(1)	ovary(1)	8											20	21	21					8																	20110429		2201	4300	6501	20154709	SO:0001583	missense	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1013T>A	8.37:g.20110429A>T	ENSP00000370981:p.Leu338His		20154709	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683428	0.68157	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.34275	1.69;1.69;1.37	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.82716	2.605	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66536	-0.5899	10	0.54805	T	0.06	-24.2043	12.8865	0.58047	1.0:0.0:0.0:0.0	.	338;338	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	H	338	ENSP00000370981:L338H;ENSP00000265801:L338H;ENSP00000429263:L338H	ENSP00000265801:L338H	L	-	2	0	LZTS1	20154709	1.000000	0.71417	0.961000	0.40146	0.697000	0.40408	8.982000	0.93471	2.068000	0.61886	0.459000	0.35465	CTT		0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		T	20110429	A	T	20110429	3	4	117	1	0	0	0	0	1	0	0	0	9138	72	3	5	785	5	LZTS1	8	20110429	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08		20110429	126253593	59	6397											
MPDZ	8777	broad.mit.edu	37	9	13224467	13224467	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr9:13224467C>A	ENST00000319217.7	-	4	546	c.299G>T	c.(298-300)gGg>gTg	p.G100V	MPDZ_ENST00000541718.1_Missense_Mutation_p.G100V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G100V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G100V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G100V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G100V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G100V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	100					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.G100V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCCAGATTCCCATTGTTTGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											127	121	123					9																	13224467		1856	4091	5947	13214467	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.299G>T	9.37:g.13224467C>A	ENSP00000320006:p.Gly100Val		13214467	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	22.5	4.304037	0.81136	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11385	2.84;2.79;2.79;2.78;2.82;2.84;2.84	5.72	5.72	0.89469	.	0.000000	0.45867	D	0.000325	T	0.26011	0.0634	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76071	0.965;0.967;0.987	T	0.00549	-1.1676	10	0.62326	D	0.03	.	19.8891	0.96923	0.0:1.0:0.0:0.0	.	100;100;100	B7ZMI4;O75970-3;O75970-2	.;.;.	V	100	ENSP00000320006:G100V;ENSP00000439807:G100V;ENSP00000370410:G100V;ENSP00000444151:G100V;ENSP00000415208:G100V;ENSP00000370403:G100V;ENSP00000446358:G100V	ENSP00000320006:G100V	G	-	2	0	MPDZ	13214467	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.502000	0.66956	2.689000	0.91719	0.655000	0.94253	GGG		0.408	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		A	13224467	C	A	13224467	3	1	117	1	0	0	0	0	1	0	0	0	9722	623	22	3	5998	3	MPDZ	9	13224467	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08		13224467	127988964	60	6398											
FAM75A3	727830	broad.mit.edu	37	9	40704225	40704225	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr9:40704225G>A	ENST00000356699.5	+	4	1911	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	628					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D628N(1)									GCAGCTTCAGGACGAATCACC	0.532																																																1	Substitution - Missense(1)	ovary(1)	9											14	12	13					9																	40704225		1412	2693	4105	40694225	SO:0001583	missense	727830					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.1882G>A	9.37:g.40704225G>A	ENSP00000349132:p.Asp628Asn		40694225		Missense_Mutation	SNP	ENST00000356699.5	37	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	G	3.460	-0.110152	0.06924	.	.	ENSG00000147926	ENST00000356699	T	0.06294	3.32	2.69	0.646	0.17789	.	2.110680	0.02054	N	0.050239	T	0.04497	0.0123	N	0.16743	0.435	0.09310	N	1	B	0.28998	0.23	B	0.29524	0.103	T	0.34850	-0.9812	10	0.25106	T	0.35	1.1179	2.6407	0.04970	0.1722:0.0:0.5438:0.284	.	628	Q5VYP0	F75A3_HUMAN	N	628	ENSP00000349132:D628N	ENSP00000349132:D628N	D	+	1	0	FAM75A3	40694225	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.248000	0.08854	0.167000	0.19631	0.398000	0.26397	GAC		0.532	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		A	40704225	G	A	40704225	3	1	117	1	0	0	0	0	1	0	0	0	5621	1174	41	2	1896	2	FAM75A3	9	40704225	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	27479758	40704225	100509206	61	6399											
SH2D3C	10044	broad.mit.edu	37	9	130511535	130511535	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr9:130511535C>A	ENST00000314830.8	-	5	1207	c.1094G>T	c.(1093-1095)gGg>gTg	p.G365V	SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Missense_Mutation_p.G11V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.G297V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.G208V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.G207V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.G205V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	365					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.G365V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCAGTGAGCCCATCGGTCAT	0.632																																																1	Substitution - Missense(1)	ovary(1)	9											63	63	63					9																	130511535		2203	4300	6503	129551356	SO:0001583	missense	10044			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1094G>T	9.37:g.130511535C>A	ENSP00000317817:p.Gly365Val		129551356	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	CCDS6877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.60|17.60	3.428844|3.428844	0.62844|0.62844	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000440630|ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830;ENST00000414380	T|T;T;T;T;T;T;T	0.26957|0.39229	1.7|2.62;2.64;2.38;2.62;1.63;2.58;1.09	5.37|5.37	4.45|4.45	0.53987|0.53987	.|.	0.047429|0.047429	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.56366|0.56366	0.1980|0.1980	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|P;D;D;D;D	.|0.89917	.|0.944;0.968;0.999;1.0;0.967	.|P;P;D;D;P	.|0.75484	.|0.554;0.633;0.968;0.986;0.74	T|T	0.60021|0.60021	-0.7344|-0.7344	8|10	0.87932|0.72032	D|D	0|0.01	-32.9815|-32.9815	14.7105|14.7105	0.69229|0.69229	0.1459:0.8541:0.0:0.0|0.1459:0.8541:0.0:0.0	.|.	.|205;365;297;208;207	.|E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.|.;SH2D3_HUMAN;.;.;.	C|V	202|208;207;297;205;11;365;182	ENSP00000401641:G202C|ENSP00000362374:G208V;ENSP00000388536:G207V;ENSP00000362373:G297V;ENSP00000362371:G205V;ENSP00000394632:G11V;ENSP00000317817:G365V;ENSP00000413760:G182V	ENSP00000401641:G202C|ENSP00000317817:G365V	G|G	-|-	1|2	0|0	SH2D3C|SH2D3C	129551356|129551356	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.474000|0.474000	0.32979|0.32979	5.466000|5.466000	0.66731|0.66731	1.365000|1.365000	0.46057|0.46057	0.561000|0.561000	0.74099|0.74099	GGC|GGG		0.632	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		A	130511535	C	A	130511535	3	1	117	1	0	0	0	0	1	0	0	0	14237	623	22	3	1520	3	SH2D3C	9	130511535	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	89807310	130511535	10701896	62	6400											
FUBP3	8939	broad.mit.edu	37	9	133506147	133506147	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr9:133506147C>A	ENST00000319725.9	+	13	1325	c.1250C>A	c.(1249-1251)gCc>gAc	p.A417D		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	417	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A417D(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		ATCGAGGTGGCCAGGCAGCTC	0.577																																																1	Substitution - Missense(1)	ovary(1)	9											48	53	51					9																	133506147		1991	4171	6162	132495968	SO:0001583	missense	8939			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1250C>A	9.37:g.133506147C>A	ENSP00000318177:p.Ala417Asp		132495968	A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092839	0.94149	.	.	ENSG00000107164	ENST00000319725	D	0.84516	-1.86	5.53	5.53	0.82687	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97722	1.0197	10	0.87932	D	0	-18.453	18.4501	0.90700	0.0:1.0:0.0:0.0	.	417;417	A3KFK8;Q96I24	.;FUBP3_HUMAN	D	417	ENSP00000318177:A417D	ENSP00000318177:A417D	A	+	2	0	FUBP3	132495968	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.592000	0.87571	0.655000	0.94253	GCC		0.577	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			A	133506147	C	A	133506147	3	1	117	1	0	0	0	0	1	0	0	0	6093	739	26	3	1300	3	FUBP3	9	133506147	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	2994612	133506147	7707284	63	6401											
MRC1	4360	broad.mit.edu	37	10	17865237	17865237	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr10:17865237G>A	ENST00000331429.2	+	2	329	c.226G>A	c.(226-228)Gga>Aga	p.G76R	MRC1L1_ENST00000457317.1_Missense_Mutation_p.G76R														p.G76R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATTATGCCTGGGAGTGCCATC	0.453																																																1	Substitution - Missense(1)	ovary(1)	10											157	158	158					10																	17865237		2032	3964	5996	17905243	SO:0001583	missense	4360																														ENST00000331429.2:c.226G>A	10.37:g.17865237G>A	ENSP00000332124:p.Gly76Arg		17905243		Missense_Mutation	SNP	ENST00000331429.2	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.217301	0.79352	.	.	ENSG00000183748	ENST00000331429;ENST00000457317	T;T	0.26223	1.75;1.75	4.17	4.17	0.49024	.	0.000000	0.50627	D	0.000101	T	0.52980	0.1768	.	.	.	0.42157	D	0.991584	D	0.89917	1.0	D	0.97110	1.0	T	0.64748	-0.6334	8	0.87932	D	0	.	16.7185	0.85404	0.0:0.0:1.0:0.0	.	76	B9EJA8	.	R	76	ENSP00000332124:G76R;ENSP00000391843:G76R	ENSP00000332124:G76R	G	+	1	0	AL928580.1	17905243	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.814000	0.91968	2.162000	0.67917	0.552000	0.68991	GGA		0.453	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			A	17865237	G	A	17865237	3	1	117	1	0	0	0	0	1	0	0	0	9756	1233	43	2	232	2	MRC1	10	17865237	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08		17865237	117669510	64	6402											
DNA2	1763	broad.mit.edu	37	10	70176609	70176609	+	Missense_Mutation	SNP	C	C	A	rs552381837		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr10:70176609C>A	ENST00000358410.3	-	20	3021	c.2971G>T	c.(2971-2973)Ggt>Tgt	p.G991C	DNA2_ENST00000399179.2_Missense_Mutation_p.G753C|DNA2_ENST00000399180.2_Missense_Mutation_p.G1077C	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	991	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AAGAGTTCACCAACCTGTAAG	0.363																																																0			10											50	49	49					10																	70176609		1847	4095	5942	69846615	SO:0001583	missense	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2971G>T	10.37:g.70176609C>A	ENSP00000351185:p.Gly991Cys		69846615	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.540179|4.540179	0.85917|0.85917	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410|ENST00000440722	D;D;D|.	0.96300|.	-3.97;-3.97;-3.97|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.126710|.	0.53938|.	D|.	0.000051|.	D|D	0.90518|0.90518	0.7029|0.7029	H|H	0.97940|0.97940	4.11|4.11	0.47037|0.47037	D|D	0.999299|0.999299	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94201|0.94201	0.7450|0.7450	10|5	0.87932|.	D|.	0|.	.|.	18.4906|18.4906	0.90846|0.90846	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	753;991|.	F8VR31;P51530|.	.;DNA2L_HUMAN|.	C|L	753;1077;753;991|312	ENSP00000382133:G1077C;ENSP00000382132:G753C;ENSP00000351185:G991C|.	ENSP00000351185:G991C|.	G|W	-|-	1|2	0|0	DNA2|DNA2	69846615|69846615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	7.320000|7.320000	0.79064|0.79064	2.356000|2.356000	0.79943|0.79943	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.363	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			A	70176609	C	A	70176609	3	1	117	1	0	0	0	0	1	0	0	0	4596	594	21	3	219	3	DNA2	10	70176609	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	52311372	70176609	65358138	65	6403											
CDH23	64072	broad.mit.edu	37	10	73558212	73558212	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr10:73558212C>T	ENST00000224721.6	+	49	6951	c.6946C>T	c.(6946-6948)Cct>Tct	p.P2316S	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.P71S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2311	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.P2316S(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGGGCCACCCCTGGGACCAC	0.597																																																1	Substitution - Missense(1)	ovary(1)	10											59	63	61					10																	73558212		2002	4172	6174	73228218	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6946C>T	10.37:g.73558212C>T	ENSP00000224721:p.Pro2316Ser		73228218	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	14.68	2.606710	0.46527	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.60797	0.16	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.196285	0.44285	D	0.000469	T	0.58032	0.2094	L	0.56769	1.78	0.52501	D	0.999959	B;B	0.32893	0.107;0.389	B;B	0.36766	0.1;0.232	T	0.53472	-0.8434	10	0.16896	T	0.51	.	19.4544	0.94882	0.0:1.0:0.0:0.0	.	2311;2311	E9PEX1;Q9H251	.;CAD23_HUMAN	S	2316;2311;2314;71	ENSP00000381768:P71S	ENSP00000224721:P2316S	P	+	1	0	CDH23	73228218	0.940000	0.31905	0.770000	0.31555	0.400000	0.30750	3.959000	0.56744	2.610000	0.88304	0.655000	0.94253	CCT		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73558212	C	T	73558212	3	4	117	1	0	0	0	0	1	0	0	0	3108	623	22	2	7470	2	CDH23	10	73558212	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	3381603	73558212	61976535	66	6404											
PLAU	414236	broad.mit.edu	37	10	75673483	75673483	+	Intron	SNP	C	C	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr10:75673483C>G	ENST00000409178.1	-	3	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.P180R|PLAU_ENST00000446342.1_Missense_Mutation_p.P199R|PLAU_ENST00000372764.3_Missense_Mutation_p.P216R|PLAU_ENST00000494287.1_3'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.P216R(1)		endometrium(1)	1	Prostate(51;0.0112)					CTCATCAGCCCTTGCTGGGTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	10											39	45	43					10																	75673483		2203	4300	6503	75343489	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-650G>C	10.37:g.75673483C>G			75343489	Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702124	0.88924	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.32272	1.46;1.46;1.46	5.25	5.25	0.73442	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.102548	0.64402	D	0.000002	T	0.42131	0.1189	N	0.25789	0.76	0.80722	D	1	P;D;D;P	0.76494	0.943;0.978;0.999;0.47	P;P;D;B	0.70716	0.64;0.754;0.97;0.093	T	0.35076	-0.9803	10	0.87932	D	0	.	14.7078	0.69203	0.0:1.0:0.0:0.0	.	199;180;216;216	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	R	199;216;180;180	ENSP00000388474:P199R;ENSP00000361850:P216R;ENSP00000361848:P180R	ENSP00000361847:P180R	P	+	2	0	PLAU	75343489	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	5.798000	0.69095	2.597000	0.87782	0.650000	0.86243	CCT		0.602	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		G	75673483	C	G	75673483	1	3	117	0	1	0	0	0	0	0	0	0	12022	681	24	3		3	PLAU	10	75673483	Intron	SNP	C	TCGA-13-0923-01A-01W-0420-08	2115271	75673483	59861264	67	6405											
DLG5	9231	broad.mit.edu	37	10	79569428	79569428	+	Silent	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr10:79569428G>T	ENST00000372391.2	-	24	4529	c.4524C>A	c.(4522-4524)tcC>tcA	p.S1508S	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.S1168S	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1508	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.S1508S(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCCAGCTGGGACTTTTTGA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	10											189	190	189					10																	79569428		2203	4300	6503	79239434	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4524C>A	10.37:g.79569428G>T			79239434	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																				0.547	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			T	79569428	G	T	79569428	2	4	117	1	0	0	0	0	0	0	0	1	4558	1219	43	3		3	DLG5	10	79569428	Silent	SNP	G	TCGA-13-0923-01A-01W-0420-08	3895945	79569428	55965319	68	6406											
CYP2C19	1557	broad.mit.edu	37	10	96602603	96602603	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr10:96602603A>G	ENST00000371321.3	+	7	1053	c.971A>G	c.(970-972)cAg>cGg	p.Q324R	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	324					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.Q324R(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GCTAAAGTCCAGGAAGAGATT	0.488																																																1	Substitution - Missense(1)	ovary(1)	10											141	128	132					10																	96602603		2203	4300	6503	96592593	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.971A>G	10.37:g.96602603A>G	ENSP00000360372:p.Gln324Arg		96592593	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920663	0.52653	.	.	ENSG00000165841	ENST00000371321	T	0.09723	2.95	3.37	3.37	0.38596	.	0.173419	0.39083	U	0.001475	T	0.15609	0.0376	M	0.62016	1.91	0.32294	N	0.565853	P	0.43094	0.799	P	0.45071	0.468	T	0.11203	-1.0597	10	0.56958	D	0.05	.	10.0786	0.42375	1.0:0.0:0.0:0.0	.	324	P33261	CP2CJ_HUMAN	R	324	ENSP00000360372:Q324R	ENSP00000360372:Q324R	Q	+	2	0	CYP2C19	96592593	1.000000	0.71417	0.989000	0.46669	0.764000	0.43329	6.770000	0.74990	1.302000	0.44855	0.414000	0.27820	CAG		0.488	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		G	96602603	A	G	96602603	3	3	117	1	0	0	0	0	1	0	0	0	4166	188	7	4	997	4	CYP2C19	10	96602603	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	17033175	96602603	38932144	69	6407											
SLK	9748	broad.mit.edu	37	10	105768064	105768064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr10:105768064G>T	ENST00000369755.3	+	12	3279	c.2734G>T	c.(2734-2736)Gag>Tag	p.E912*	SLK_ENST00000335753.4_Nonsense_Mutation_p.E912*|SLK_ENST00000474260.1_3'UTR	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	912					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.E912*(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAGAACAAGAGAAAGAGTT	0.363																																					NSCLC(111;540 1651 1927 4474 17706)											1	Substitution - Nonsense(1)	ovary(1)	10											79	79	79					10																	105768064		2203	4300	6503	105758054	SO:0001587	stop_gained	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2734G>T	10.37:g.105768064G>T	ENSP00000358770:p.Glu912*		105758054	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Nonsense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	46	12.657210	0.99686	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.94	4.99	0.66335	.	0.093460	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6436	0.85155	0.0:0.1296:0.8704:0.0	.	.	.	.	X	912	.	ENSP00000336824:E912X	E	+	1	0	SLK	105758054	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.934000	0.87649	2.820000	0.97059	0.650000	0.86243	GAG		0.363	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		T	105768064	G	T	105768064	4	4	117	1	0	0	0	0	0	1	0	0	14751	943	33	3	2780	3	SLK	10	105768064	Nonsense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	9165461	105768064	29766683	70	6408											
CUZD1	50624	broad.mit.edu	37	10	124598699	124598699	+	Silent	SNP	G	G	A	rs141440856		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr10:124598699G>A	ENST00000368904.1	-	5	1231	c.282C>T	c.(280-282)gaC>gaT	p.D94D	CUZD1_ENST00000545804.1_Silent_p.D94D|CUZD1_ENST00000392790.1_Silent_p.D94D					CUB and zona pellucida-like domains 1									p.D94D(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TGGAGGTTCCGTCAAAGACTT	0.433													G|||	1	0.000199681	8e-04	0	5008	,	,		20863	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	10						G		0,4406		0,0,2203	181	169	173		282	-2.7	0	10	dbSNP_134	173	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CUZD1	NM_022034.5		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		94/608	124598699	2,13004	2203	4300	6503	124588689	SO:0001819	synonymous_variant	50624			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.282C>T	10.37:g.124598699G>A			124588689		Silent	SNP	ENST00000368904.1	37	CCDS7631.1																																																																																				0.433	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		A	124598699	G	A	124598699	2	1	117	1	0	0	0	0	0	0	0	1	4066	1136	40	1		1	CUZD1	10	124598699	Silent	SNP	G	TCGA-13-0923-01A-01W-0420-08	18830635	124598699	10936048	71	6409											
ANO5	203859	broad.mit.edu	37	11	22294385	22294385	+	Silent	SNP	T	T	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr11:22294385T>A	ENST00000324559.8	+	19	2402	c.2085T>A	c.(2083-2085)ctT>ctA	p.L695L	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	695					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L695L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCTCCTCTTCTTGCTCTCA	0.383																																																1	Substitution - coding silent(1)	ovary(1)	11											141	125	130					11																	22294385		2203	4300	6503	22250961	SO:0001819	synonymous_variant	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2085T>A	11.37:g.22294385T>A			22250961		Silent	SNP	ENST00000324559.8	37	CCDS31444.1																																																																																				0.383	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		A	22294385	T	A	22294385	2	1	117	1	0	0	0	0	0	0	0	1	700	1770	62	5		5	ANO5	11	22294385	Silent	SNP	T	TCGA-13-0923-01A-01W-0420-08		22294385	112712131	72	6410											
API5	8539	broad.mit.edu	37	11	43342382	43342382	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr11:43342382A>C	ENST00000531273.1	+	3	382	c.243A>C	c.(241-243)caA>caC	p.Q81H	API5_ENST00000534600.1_Missense_Mutation_p.Q81H|API5_ENST00000455725.2_Missense_Mutation_p.Q70H|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.Q27H|API5_ENST00000378852.3_Missense_Mutation_p.Q81H			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	81	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.Q81H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TTCGACGTCAAGCAATTAAAG	0.323																																					Pancreas(1;98 122 5625 20895 49453)											1	Substitution - Missense(1)	ovary(1)	11											95	101	99					11																	43342382		2203	4300	6503	43298958	SO:0001583	missense	8539			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.243A>C	11.37:g.43342382A>C	ENSP00000431391:p.Gln81His		43298958	B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249707	0.80024	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	6.13	1.22	0.21188	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	M	0.76727	2.345	0.54753	D	0.999982	D;D;D;D	0.65815	0.995;0.989;0.995;0.986	D;P;D;P	0.65323	0.916;0.832;0.934;0.724	T	0.53351	-0.8451	10	0.66056	D	0.02	-24.0468	9.8823	0.41240	0.7397:0.0:0.2603:0.0	.	27;81;70;81	B4DGR0;Q9BZZ5;B4E283;Q9BZZ5-2	.;API5_HUMAN;.;.	H	70;81;27;81;81	ENSP00000399341:Q70H;ENSP00000431391:Q81H;ENSP00000402540:Q27H;ENSP00000368129:Q81H;ENSP00000434462:Q81H	ENSP00000368129:Q81H	Q	+	3	2	API5	43298958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.126000	0.31344	0.208000	0.20626	0.529000	0.55759	CAA		0.323	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		C	43342382	A	C	43342382	3	2	117	1	0	0	0	0	1	0	0	0	773	69	3	5	253	5	API5	11	43342382	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	21047997	43342382	91664134	73	6411											
ALG8	79053	broad.mit.edu	37	11	77832111	77832111	+	Splice_Site	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr11:77832111G>A	ENST00000299626.5	-	4	549	c.478C>T	c.(478-480)Cat>Tat	p.H160Y	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Splice_Site_p.H160Y	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	160					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.H160N(1)|p.H160Y(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TCAAGGATACGGTCCACAATT	0.323																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	11											158	150	153					11																	77832111		2200	4292	6492	77509759	SO:0001630	splice_region_variant	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.478+1C>T	11.37:g.77832111G>A			77509759	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726563	0.89298	.	.	ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000525755;ENST00000530454;ENST00000525870;ENST00000527099	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.81	5.81	0.92471	.	0.042496	0.85682	D	0.000000	D	0.93344	0.7878	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74674	0.984;0.984;0.984	D	0.92952	0.6381	9	.	.	.	-12.3946	20.0833	0.97789	0.0:0.0:1.0:0.0	.	160;160;160	B3KQL8;Q9BVK2;A6NDW6	.;ALG8_HUMAN;.	Y	160;160;109;161;72;72	ENSP00000299626:H160Y;ENSP00000365326:H160Y;ENSP00000435467:H109Y;ENSP00000434660:H161Y;ENSP00000435417:H72Y;ENSP00000436064:H72Y	.	H	-	1	0	ALG8	77509759	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	8.502000	0.90505	2.756000	0.94617	0.655000	0.94253	CAT		0.323	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079	Missense_Mutation	A	77832111	G	A	77832111	5	1	117	1	0	0	0	0	0	0	1	0	523	1130	39	1	1201	1	ALG8	11	77832111	Splice_Site	SNP	G	TCGA-13-0923-01A-01W-0420-08	34489729	77832111	57174405	74	6412											
MED17	9440	broad.mit.edu	37	11	93527011	93527011	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr11:93527011A>G	ENST00000251871.3	+	4	1042	c.755A>G	c.(754-756)gAg>gGg	p.E252G		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	252					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E252G(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTGATTTAGAGGGGTCTGCA	0.308																																																1	Substitution - Missense(1)	ovary(1)	11											75	74	75					11																	93527011		2201	4298	6499	93166659	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.755A>G	11.37:g.93527011A>G	ENSP00000251871:p.Glu252Gly		93166659	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871715	0.91587	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.55052	0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.68469	-0.5400	10	0.59425	D	0.04	-28.5212	15.8545	0.78965	1.0:0.0:0.0:0.0	.	252	Q9NVC6	MED17_HUMAN	G	252;222	ENSP00000251871:E252G	ENSP00000251871:E252G	E	+	2	0	MED17	93166659	1.000000	0.71417	0.988000	0.46212	0.963000	0.63663	9.221000	0.95188	2.160000	0.67779	0.533000	0.62120	GAG		0.308	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		G	93527011	A	G	93527011	3	3	117	1	0	0	0	0	1	0	0	0	9435	304	11	4	769	4	MED17	11	93527011	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	15694900	93527011	41479505	75	6413											
TRIM29	23650	broad.mit.edu	37	11	119996570	119996570	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr11:119996570A>T	ENST00000341846.5	-	4	1583	c.1162T>A	c.(1162-1164)Tct>Act	p.S388T	TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000524816.3_5'Flank|TRIM29_ENST00000541857.1_Missense_Mutation_p.S121T|TRIM29_ENST00000529044.1_Missense_Mutation_p.S127T	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	388					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S388T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGGGGGAGAGAGTAATTGCTC	0.532																																																1	Substitution - Missense(1)	ovary(1)	11											63	59	60					11																	119996570		2199	4295	6494	119501780	SO:0001583	missense	23650			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1162T>A	11.37:g.119996570A>T	ENSP00000343129:p.Ser388Thr		119501780	Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	A	8.085	0.773259	0.16051	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.38722	1.12	4.09	4.09	0.47781	.	0.556436	0.17301	N	0.179254	T	0.22666	0.0547	N	0.14661	0.345	0.27107	N	0.962476	B;B;B	0.34290	0.447;0.106;0.003	B;B;B	0.35550	0.205;0.042;0.004	T	0.07558	-1.0766	9	.	.	.	.	5.1569	0.15040	0.6308:0.2021:0.0:0.1671	.	121;127;388	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	T	388;121;127	ENSP00000343129:S388T	.	S	-	1	0	TRIM29	119501780	0.935000	0.31712	1.000000	0.80357	0.986000	0.74619	1.658000	0.37376	1.858000	0.53909	0.533000	0.62120	TCT		0.532	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		T	119996570	A	T	119996570	3	4	117	1	0	0	0	0	1	0	0	0	16503	304	11	5	628	5	TRIM29	11	119996570	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	26469559	119996570	15009946	76	6414											
PHB2	11331	broad.mit.edu	37	12	7076351	7076351	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:7076351G>C	ENST00000535923.1	-	7	1053	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	PHB2_ENST00000542912.1_Missense_Mutation_p.Q258E|SCARNA12_ENST00000459155.1_RNA|U47924.29_ENST00000606539.1_RNA|MIR141_ENST00000384975.1_RNA|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'Flank|U47924.27_ENST00000537269.1_lincRNA|PHB2_ENST00000440277.1_Missense_Mutation_p.Q220E|PHB2_ENST00000399433.2_Missense_Mutation_p.Q258E	NM_001144831.1	NP_001138303.1			prohibitin 2									p.Q258E(1)		ovary(2)|pancreas(1)	3						GAGATATTCTGGGCTGCTCGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	12											101	107	105					12																	7076351		1985	4156	6141	6946612	SO:0001583	missense	11331			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.772C>G	12.37:g.7076351G>C	ENSP00000441875:p.Gln258Glu		6946612		Missense_Mutation	SNP	ENST00000535923.1	37	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513548	0.64522	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	U	0.000001	T	0.68100	0.2964	L	0.38692	1.165	0.80722	D	1	P;P	0.46578	0.88;0.773	P;P	0.56865	0.808;0.515	T	0.58584	-0.7611	9	0.16420	T	0.52	-15.2406	20.1865	0.98220	0.0:0.0:1.0:0.0	.	220;258	B4DP75;Q99623	.;PHB2_HUMAN	E	258;258;258;220	.	ENSP00000382362:Q258E	Q	-	1	0	PHB2	6946612	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.677000	0.98645	2.775000	0.95449	0.655000	0.94253	CAG		0.522	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		C	7076351	G	C	7076351	3	2	117	1	0	0	0	0	1	0	0	0	11815	1357	47	3	139	3	PHB2	12	7076351	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08		7076351	126775544	77	6415											
CD163L1	283316	broad.mit.edu	37	12	7531654	7531654	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:7531654G>T	ENST00000313599.3	-	9	2348	c.2291C>A	c.(2290-2292)gCc>gAc	p.A764D	CD163L1_ENST00000396630.1_Missense_Mutation_p.A764D|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.A774D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	764	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.A764D(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGAGAGAGGCTTCCCCTCC	0.443																																																1	Substitution - Missense(1)	ovary(1)	12											79	75	76					12																	7531654		2203	4300	6503	7422921	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2291C>A	12.37:g.7531654G>T	ENSP00000315945:p.Ala764Asp		7422921	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	8.913	0.959295	0.18507	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35973	1.28;1.28;1.28	2.03	-0.163	0.13363	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.836890	0.03793	U	0.263246	T	0.37461	0.1004	L	0.28649	0.875	0.09310	N	1	P;P	0.45986	0.623;0.87	B;P	0.52598	0.253;0.703	T	0.25117	-1.0141	10	0.39692	T	0.17	.	5.5328	0.16995	0.0:0.2184:0.5588:0.2228	.	774;764	E7EVK4;Q9NR16	.;C163B_HUMAN	D	764;774;764	ENSP00000315945:A764D;ENSP00000393474:A774D;ENSP00000379871:A764D	ENSP00000315945:A764D	A	-	2	0	CD163L1	7422921	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.614000	0.24314	-0.042000	0.13535	0.455000	0.32223	GCC		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7531654	G	T	7531654	3	4	117	1	0	0	0	0	1	0	0	0	2968	1203	42	3	2114	3	CD163L1	12	7531654	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	455303	7531654	126320241	78	6416											
DIP2B	57609	broad.mit.edu	37	12	51069111	51069111	+	Splice_Site	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:51069111G>C	ENST00000301180.5	+	7	830		c.e7-1			NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCCCTTATAGGTGTTCCTGT	0.383																																																1	Unknown(1)	ovary(1)	12											75	78	77					12																	51069111		2203	4300	6503	49355378	SO:0001630	splice_region_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.797-1G>C	12.37:g.51069111G>C			49355378	Q6B011|Q8N1L5|Q8NB38	Splice_Site	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345536	0.82022	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIP2B	49355378	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	9.657000	0.98554	2.460000	0.83146	0.467000	0.42956	.		0.383	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	Intron	C	51069111	G	C	51069111	5	2	117	1	0	0	0	0	0	0	1	0	4528	1014	35	3	822	3	DIP2B	12	51069111	Splice_Site	SNP	G	TCGA-13-0923-01A-01W-0420-08	43537457	51069111	82782784	79	6417											
ITGB7	3695	broad.mit.edu	37	12	53591298	53591298	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:53591298C>T	ENST00000267082.5	-	5	784	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	ITGB7_ENST00000338737.4_Missense_Mutation_p.V185I|ITGB7_ENST00000550743.2_Missense_Mutation_p.V185I|ITGB7_ENST00000422257.3_Missense_Mutation_p.V185I	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	185	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.V185I(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAATGGGTGACTTCCTGCAGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											83	77	79					12																	53591298		2203	4300	6503	51877565	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.553G>A	12.37:g.53591298C>T	ENSP00000267082:p.Val185Ile		51877565	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	6.607	0.480332	0.12581	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	4.91	3.99	0.46301	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.31370	N	0.007774	T	0.76659	0.4018	N	0.03930	-0.32	0.40994	D	0.984872	P;B	0.42296	0.775;0.051	B;B	0.39660	0.306;0.097	T	0.78074	-0.2346	10	0.02654	T	1	.	8.4089	0.32632	0.0:0.7124:0.1998:0.0877	.	185;185	B7Z769;P26010	.;ITB7_HUMAN	I	185	ENSP00000408741:V185I;ENSP00000267082:V185I;ENSP00000345501:V185I;ENSP00000437375:V185I	ENSP00000267082:V185I	V	-	1	0	ITGB7	51877565	0.473000	0.25878	0.797000	0.32132	0.714000	0.41099	0.964000	0.29306	1.108000	0.41662	0.555000	0.69702	GTC		0.612	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			T	53591298	C	T	53591298	3	4	117	1	0	0	0	0	1	0	0	0	7900	565	20	2	1891	2	ITGB7	12	53591298	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	2522187	53591298	80260597	80	6418											
MARS	4141	broad.mit.edu	37	12	57892256	57892256	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:57892256A>G	ENST00000262027.5	+	9	1075	c.941A>G	c.(940-942)tAt>tGt	p.Y314C	MARS_ENST00000315473.5_Missense_Mutation_p.Y80C|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	314					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.Y314C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ACAGATGAGTATGGTACAGCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											110	97	101					12																	57892256		2203	4300	6503	56178523	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.941A>G	12.37:g.57892256A>G	ENSP00000262027:p.Tyr314Cys		56178523	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.425693|4.425693	0.83667|0.83667	.|.	.|.	ENSG00000166986|ENSG00000166986	ENST00000552371|ENST00000262027;ENST00000315473	.|T;T	.|0.50277	.|1.2;0.75	4.88|4.88	4.88|4.88	0.63580|0.63580	.|Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	.|0.179422	.|0.49916	.|D	.|0.000131	T|T	0.78451|0.78451	0.4285|0.4285	H|H	0.96662|0.96662	3.86|3.86	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;1.0	D|D	0.85830|0.85830	0.1391|0.1391	5|10	.|0.87932	.|D	.|0	-9.6615|-9.6615	13.7808|13.7808	0.63081|0.63081	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|80;187;314	.|A6NC17;B4E0E9;P56192	.|.;.;SYMC_HUMAN	V|C	147|314;80	.|ENSP00000262027:Y314C;ENSP00000314653:Y80C	.|ENSP00000262027:Y314C	M|Y	+|+	1|2	0|0	MARS|MARS	56178523|56178523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	8.814000|8.814000	0.91968|0.91968	1.965000|1.965000	0.57142|0.57142	0.459000|0.459000	0.35465|0.35465	ATG|TAT		0.562	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		G	57892256	A	G	57892256	3	3	117	1	0	0	0	0	1	0	0	0	9316	449	16	4	975	4	MARS	12	57892256	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	4300958	57892256	75959639	81	6419											
KITLG	4254	broad.mit.edu	37	12	88912638	88912638	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:88912638G>A	ENST00000228280.5	-	4	381	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	KITLG_ENST00000347404.5_Missense_Mutation_p.H67Y|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	67					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)	p.H67Y(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATCCAACAATGACTTGGCTGC	0.353									Testicular Cancer, Familial Clustering of																																							1	Substitution - Missense(1)	ovary(1)	12											65	63	64					12																	88912638		2203	4300	6503	87436769	SO:0001583	missense	4254	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2"	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.199C>T	12.37:g.88912638G>A	ENSP00000228280:p.His67Tyr		87436769	A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186491	0.78789	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.70869	-0.52;-0.52	6.05	6.05	0.98169	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.150547	0.64402	D	0.000005	D	0.83681	0.5307	M	0.65498	2.005	0.53005	D	0.999968	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	D	0.84100	0.0395	10	0.87932	D	0	-15.1986	18.3872	0.90470	0.0:0.0:1.0:0.0	.	67;67	P21583-2;P21583	.;SCF_HUMAN	Y	32;67;67	ENSP00000228280:H67Y;ENSP00000054216:H67Y	ENSP00000228280:H67Y	H	-	1	0	KITLG	87436769	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.583000	0.67484	2.871000	0.98454	0.637000	0.83480	CAT		0.353	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		A	88912638	G	A	88912638	3	1	117	1	0	0	0	0	1	0	0	0	8330	1290	45	2	646	2	KITLG	12	88912638	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	31020382	88912638	44939257	82	6420											
APAF1	317	broad.mit.edu	37	12	99043373	99043373	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:99043373A>T	ENST00000551964.1	+	4	1173	c.437A>T	c.(436-438)gAa>gTa	p.E146V	APAF1_ENST00000333991.1_Missense_Mutation_p.E146V|APAF1_ENST00000357310.1_Missense_Mutation_p.E146V|APAF1_ENST00000549007.1_Missense_Mutation_p.E146V|APAF1_ENST00000339433.3_Missense_Mutation_p.E146V|APAF1_ENST00000547045.1_Missense_Mutation_p.E146V|APAF1_ENST00000550527.1_Missense_Mutation_p.E135V|APAF1_ENST00000552268.1_Missense_Mutation_p.E146V|APAF1_ENST00000359972.2_Missense_Mutation_p.E135V	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	146	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.E146V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTGAAAGGTGAACCAGGATGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											112	102	105					12																	99043373		2203	4300	6503	97567504	SO:0001583	missense	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.437A>T	12.37:g.99043373A>T	ENSP00000448165:p.Glu146Val		97567504	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944712	0.73672	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.55	5.55	0.83447	NB-ARC (1);	0.242172	0.47852	D	0.000202	D	0.82949	0.5148	L	0.39898	1.24	0.39044	D	0.960182	B;B;P;B;P	0.52842	0.252;0.315;0.462;0.391;0.956	B;B;B;B;D	0.68943	0.126;0.266;0.192;0.385;0.961	D	0.83768	0.0218	10	0.41790	T	0.15	-3.0119	15.676	0.77321	1.0:0.0:0.0:0.0	.	146;146;135;146;135	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	V	146;135;146;146;146;146;135;146;146	ENSP00000448165:E146V;ENSP00000353059:E135V;ENSP00000349862:E146V;ENSP00000341830:E146V;ENSP00000334558:E146V;ENSP00000448826:E146V;ENSP00000448449:E135V;ENSP00000449791:E146V;ENSP00000448161:E146V	ENSP00000334558:E146V	E	+	2	0	APAF1	97567504	0.995000	0.38212	0.729000	0.30791	0.867000	0.49689	3.418000	0.52721	2.109000	0.64355	0.533000	0.62120	GAA		0.463	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		T	99043373	A	T	99043373	3	4	117	1	0	0	0	0	1	0	0	0	755	246	9	5	447	5	APAF1	12	99043373	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	10130735	99043373	34808522	83	6421											
CRY1	1407	broad.mit.edu	37	12	107395058	107395058	+	Splice_Site	SNP	T	T	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:107395058T>A	ENST00000008527.5	-	5	1551	c.684A>T	c.(682-684)aaA>aaT	p.K228N		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	228					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.K228N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATTATCATACTTTTCTTTCCA	0.328																																																1	Substitution - Missense(1)	ovary(1)	12											95	97	96					12																	107395058		2203	4300	6503	105919188	SO:0001630	splice_region_variant	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.684+1A>T	12.37:g.107395058T>A			105919188		Missense_Mutation	SNP	ENST00000008527.5	37	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773080	0.69992	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.72	3.41	0.39046	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	L	0.48362	1.52	0.80722	D	1	P	0.41710	0.76	B	0.42163	0.378	T	0.26052	-1.0114	8	.	.	.	-21.805	7.262	0.26209	0.0:0.3581:0.0:0.6419	.	228	Q16526	CRY1_HUMAN	N	228	.	.	K	-	3	2	CRY1	105919188	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.497000	0.45354	1.007000	0.39238	0.455000	0.32223	AAA		0.328	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075	Missense_Mutation	A	107395058	T	A	107395058	5	1	117	1	0	0	0	0	0	0	1	0	3903	1623	56	5	1108	5	CRY1	12	107395058	Splice_Site	SNP	T	TCGA-13-0923-01A-01W-0420-08	8351685	107395058	26456837	84	6422											
CMKLR1	1240	broad.mit.edu	37	12	108686410	108686410	+	Silent	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:108686410G>C	ENST00000312143.7	-	3	693	c.330C>G	c.(328-330)gcC>gcG	p.A110A	CMKLR1_ENST00000550402.1_Silent_p.A110A|CMKLR1_ENST00000552995.1_Silent_p.A108A|CMKLR1_ENST00000412676.1_Silent_p.A110A|CMKLR1_ENST00000397688.2_Silent_p.A108A	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	110					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.A108A(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCTTGCACATGGCTGTCCCGA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	12											138	143	142					12																	108686410		2151	4251	6402	107210540	SO:0001819	synonymous_variant	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.330C>G	12.37:g.108686410G>C			107210540	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Silent	SNP	ENST00000312143.7	37	CCDS44965.1																																																																																				0.532	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			C	108686410	G	C	108686410	2	2	117	1	0	0	0	0	0	0	0	1	3579	1335	47	3		3	CMKLR1	12	108686410	Silent	SNP	G	TCGA-13-0923-01A-01W-0420-08	1291352	108686410	25165485	85	6423											
MED13L	23389	broad.mit.edu	37	12	116421066	116421066	+	Missense_Mutation	SNP	G	G	A	rs138117728		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr12:116421066G>A	ENST00000281928.3	-	21	5017	c.4811C>T	c.(4810-4812)tCt>tTt	p.S1604F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1604	Ser-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S1604F(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAATCCTGAAGAAGAGGTAGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											99	95	96					12																	116421066		2203	4300	6503	114905449	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4811C>T	12.37:g.116421066G>A	ENSP00000281928:p.Ser1604Phe		114905449	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.75|19.75	3.885532|3.885532	0.72410|0.72410	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000549786|ENST00000281928	.|T	.|0.75704	.|-0.96	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.099373	.|0.45606	.|D	.|0.000359	T|T	0.67915|0.67915	0.2944|0.2944	N|N	0.14661|0.14661	0.345|0.345	0.41319|0.41319	D|D	0.987166|0.987166	.|P	.|0.37864	.|0.61	.|B	.|0.41988	.|0.372	T|T	0.70699|0.70699	-0.4800|-0.4800	5|10	.|0.66056	.|D	.|0.02	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1604	.|Q71F56	.|MD13L_HUMAN	F|F	59|1604	.|ENSP00000281928:S1604F	.|ENSP00000281928:S1604F	L|S	-|-	1|2	0|0	MED13L|MED13L	114905449|114905449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.366000|6.366000	0.73095|0.73095	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.532	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			A	116421066	G	A	116421066	3	1	117	1	0	0	0	0	1	0	0	0	9431	942	33	2	1865	2	MED13L	12	116421066	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	7734656	116421066	17430829	86	6424											
NBEA	26960	broad.mit.edu	37	13	35738551	35738567	+	Frame_Shift_Del	DEL	CATAACACAATTCACCT	CATAACACAATTCACCT	-	rs546855534		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	CATAACACAATTCACCT	CATAACACAATTCACCT	-	-	CATAACACAATTCACCT	CATAACACAATTCACCT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr13:35738551_35738567delCATAACACAATTCACCT	ENST00000400445.3	+	24	4672_4688	c.4138_4154delCATAACACAATTCACCT	c.(4138-4155)cataacacaattcacctcfs	p.HNTIHL1380fs	NBEA_ENST00000379939.2_Frame_Shift_Del_p.HNTIHL1380fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.HNTIHL1380fs|NBEA_ENST00000540320.1_Frame_Shift_Del_p.HNTIHL1380fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1380					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.N1381fs*28(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATTTTTGTACATAACACAATTCACCTCATTTCCCAA	0.346																																																1	Deletion - Frameshift(1)	ovary(1)	13																																								34636567	SO:0001589	frameshift_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4138_4154delCATAACACAATTCACCT	13.37:g.35738551_35738567delCATAACACAATTCACCT	ENSP00000383295:p.His1380fs		34636551	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	ENST00000400445.3	37	CCDS45026.1																																																																																				0.346	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		-	35738567	CATAACACAATTCACCT	-	35738551	7	5	117	1	0	1	0	1	0	0	0	0	10187	478	17	0	4232	0	NBEA	13	35738551	Frame_Shift_Del	DEL	CATAACACAATTCACCT	TCGA-13-0923-01A-01W-0420-08		35738551	79431327	87	6425											
EFNB2	1948	broad.mit.edu	37	13	107145608	107145608	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr13:107145608G>A	ENST00000245323.4	-	5	931	c.782C>T	c.(781-783)cCg>cTg	p.P261L		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	261					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)	p.P261L(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGTGTGCTGCGGCGAGTGCTT	0.567																																																1	Substitution - Missense(1)	ovary(1)	13											150	115	127					13																	107145608		2203	4300	6503	105943609	SO:0001583	missense	1948			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.782C>T	13.37:g.107145608G>A	ENSP00000245323:p.Pro261Leu		105943609	Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135729	0.94517	.	.	ENSG00000125266	ENST00000245323	D	0.90563	-2.69	5.81	5.81	0.92471	.	0.144593	0.64402	D	0.000005	D	0.88070	0.6338	L	0.43152	1.355	0.80722	D	1	P	0.52692	0.955	B	0.39876	0.312	D	0.89187	0.3548	10	0.62326	D	0.03	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	261	P52799	EFNB2_HUMAN	L	261	ENSP00000245323:P261L	ENSP00000245323:P261L	P	-	2	0	EFNB2	105943609	1.000000	0.71417	0.922000	0.36590	0.997000	0.91878	9.787000	0.99055	2.746000	0.94184	0.655000	0.94253	CCG		0.567	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		A	107145608	G	A	107145608	3	1	117	1	0	0	0	0	1	0	0	0	4956	1116	39	1	223	1	EFNB2	13	107145608	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	71407057	107145608	8024270	88	6426											
CEBPE	1053	broad.mit.edu	37	14	23586742	23586742	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr14:23586742A>G	ENST00000206513.5	-	2	1324	c.800T>C	c.(799-801)aTt>aCt	p.I267T		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	267	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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 positive regulation of transcription (GO:0001077)	p.I267T(1)		large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CGCCTCAGGAATCTGGCGGAA	0.652																																					NSCLC(63;1230 1818 14565 22565)											1	Substitution - Missense(1)	ovary(1)	14											47	37	40					14																	23586742		2203	4300	6503	22656582	SO:0001583	missense	1053				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"basic leucine zipper proteins"	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.800T>C	14.37:g.23586742A>G	ENSP00000206513:p.Ile267Thr		22656582	Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410402	0.83340	.	.	ENSG00000092067	ENST00000206513	T	0.42131	0.98	5.49	5.49	0.81192	Basic-leucine zipper (bZIP) transcription factor (1);	0.057568	0.64402	D	0.000002	T	0.35068	0.0919	L	0.29908	0.895	0.52501	D	0.999957	P	0.47409	0.895	B	0.42030	0.373	T	0.28776	-1.0033	10	0.87932	D	0	-18.2637	14.5645	0.68165	1.0:0.0:0.0:0.0	.	267	Q15744	CEBPE_HUMAN	T	267	ENSP00000206513:I267T	ENSP00000206513:I267T	I	-	2	0	CEBPE	22656582	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.189000	0.94928	2.084000	0.62774	0.533000	0.62120	ATT		0.652	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		G	23586742	A	G	23586742	3	3	117	1	0	0	0	0	1	0	0	0	3202	101	4	4	49	4	CEBPE	14	23586742	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08		23586742	83762798	89	6427											
TRIP11	9321	broad.mit.edu	37	14	92472704	92472704	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr14:92472704T>G	ENST00000267622.4	-	11	1989	c.1616A>C	c.(1615-1617)gAa>gCa	p.E539A		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	539					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.E539A(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTCTTTTTTTCATCATTTAG	0.303			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	1	Substitution - Missense(1)	ovary(1)	14											73	68	70					14																	92472704		2203	4292	6495	91542457	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1616A>C	14.37:g.92472704T>G	ENSP00000267622:p.Glu539Ala		91542457	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.66|17.66	3.444781|3.444781	0.63178|0.63178	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04317|.	3.65|.	6.16|6.16	4.99|4.99	0.66335|0.66335	.|.	0.159490|.	0.56097|.	N|.	0.000022|.	T|.	0.73156|.	0.3551|.	M|M	0.76002|0.76002	2.32|2.32	0.51012|0.51012	D|D	0.999906|0.999906	B;D|.	0.53151|.	0.082;0.958|.	B;P|.	0.51487|.	0.096;0.671|.	T|.	0.73075|.	-0.4097|.	10|.	0.09338|.	T|.	0.73|.	.|.	13.5143|13.5143	0.61530|0.61530	0.0:0.0:0.1303:0.8697|0.0:0.0:0.1303:0.8697	.|.	275;539|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	A|C	539;275|254	ENSP00000267622:E539A|.	ENSP00000267622:E539A|.	E|X	-|-	2|3	0|0	TRIP11|TRIP11	91542457|91542457	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.639000|0.639000	0.38242|0.38242	3.487000|3.487000	0.53222|0.53222	1.116000|1.116000	0.41820|0.41820	0.528000|0.528000	0.53228|0.53228	GAA|TGA		0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			G	92472704	T	G	92472704	3	3	117	1	0	0	0	0	1	0	0	0	16555	1783	62	5	4367	5	TRIP11	14	92472704	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08	68885962	92472704	14876836	90	6428											
TRIP11	9321	broad.mit.edu	37	14	92480575	92480575	+	Silent	SNP	T	T	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr14:92480575T>C	ENST00000267622.4	-	7	1543	c.1170A>G	c.(1168-1170)ctA>ctG	p.L390L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	390					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L390L(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTGCTTGTTGTAGTCTGAACA	0.388			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	1	Substitution - coding silent(1)	ovary(1)	14											139	126	130					14																	92480575		2203	4300	6503	91550328	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1170A>G	14.37:g.92480575T>C			91550328	B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928969	0.34002	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.53	-7.26	0.01466	.	.	.	.	.	T	0.25082	0.0609	.	.	.	0.21355	N	0.999717	.	.	.	.	.	.	T	0.29912	-0.9996	4	.	.	.	.	7.224	0.26005	0.092:0.5425:0.0933:0.2721	.	.	.	.	A	135	.	.	T	-	1	0	TRIP11	91550328	0.037000	0.19845	0.000000	0.03702	0.972000	0.66771	-1.445000	0.02401	-1.566000	0.01673	0.459000	0.35465	ACA		0.388	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			C	92480575	T	C	92480575	2	2	117	1	0	0	0	0	0	0	0	1	16555	1625	57	4		4	TRIP11	14	92480575	Silent	SNP	T	TCGA-13-0923-01A-01W-0420-08	7871	92480575	14868965	91	6429											
DYNC1H1	1778	broad.mit.edu	37	14	102504833	102504833	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr14:102504833C>G	ENST00000360184.4	+	58	11109	c.10945C>G	c.(10945-10947)Ctg>Gtg	p.L3649V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3649	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.L3649V(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAACCCGGTGCTGAACCGTGA	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											87	81	83					14																	102504833		2203	4300	6503	101574586	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10945C>G	14.37:g.102504833C>G	ENSP00000348965:p.Leu3649Val		101574586	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945716	0.73672	.	.	ENSG00000197102	ENST00000360184	T	0.33216	1.42	5.83	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70626	-0.4820	10	0.87932	D	0	.	11.5449	0.50688	0.0:0.8057:0.0:0.1943	.	3649	Q14204	DYHC1_HUMAN	V	3649	ENSP00000348965:L3649V	ENSP00000348965:L3649V	L	+	1	2	DYNC1H1	101574586	1.000000	0.71417	0.386000	0.26170	0.860000	0.49131	4.980000	0.63812	0.395000	0.25257	-0.136000	0.14681	CTG		0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102504833	C	G	102504833	3	3	117	1	0	0	0	0	1	0	0	0	4841	796	28	3	11175	3	DYNC1H1	14	102504833	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	10024258	102504833	4844707	92	6430											
DUOX1	53905	broad.mit.edu	37	15	45448043	45448043	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr15:45448043T>A	ENST00000321429.4	+	29	4025	c.3618T>A	c.(3616-3618)taT>taA	p.Y1206*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1206*|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y852*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1206	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.Y1206*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCATCATGTATGTCTTTGCCT	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	15											138	128	131					15																	45448043		2198	4298	6496	43235335	SO:0001587	stop_gained	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3618T>A	15.37:g.45448043T>A	ENSP00000317997:p.Tyr1206*		43235335	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	T	39	7.718581	0.98450	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	.	.	.	4.01	-3.16	0.05217	.	0.126103	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7952	10.3324	0.43831	0.0:0.2831:0.0:0.7169	.	.	.	.	X	1206	.	ENSP00000317997:Y1206X	Y	+	3	2	DUOX1	43235335	0.000000	0.05858	0.968000	0.41197	0.844000	0.47949	-2.311000	0.01128	-0.492000	0.06687	-0.376000	0.06991	TAT		0.557	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		A	45448043	T	A	45448043	4	1	117	1	0	0	0	0	0	1	0	0	4800	1471	51	5	3724	5	DUOX1	15	45448043	Nonsense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08		45448043	57083349	93	6431											
FANCI	55215	broad.mit.edu	37	15	89847144	89847144	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr15:89847144G>A	ENST00000310775.7	+	28	3142	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q	FANCI_ENST00000300027.8_Missense_Mutation_p.R959Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1019					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.R959Q(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAAAACAGCCGGGGTAAGTTT	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							1	Substitution - Missense(1)	ovary(1)	15											83	88	86					15																	89847144		2200	4299	6499	87648148	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3056G>A	15.37:g.89847144G>A	ENSP00000310842:p.Arg1019Gln		87648148	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205119	0.39003	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.68765	-0.35;-0.35;0.39	5.91	-8.36	0.00980	.	2.142280	0.01665	N	0.025334	T	0.33440	0.0863	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.21821	0.006;0.061;0.061	B;B;B	0.08055	0.002;0.003;0.003	T	0.25847	-1.0120	10	0.21540	T	0.41	8.3091	7.7923	0.29127	0.4167:0.0:0.1176:0.4657	.	1019;959;959	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	Q	959;1019;959	ENSP00000300027:R959Q;ENSP00000310842:R1019Q;ENSP00000413249:R959Q	ENSP00000300027:R959Q	R	+	2	0	FANCI	87648148	0.001000	0.12720	0.006000	0.13384	0.865000	0.49528	0.498000	0.22530	-1.593000	0.01617	-0.266000	0.10368	CGG		0.363	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		A	89847144	G	A	89847144	3	1	117	1	0	0	0	0	1	0	0	0	5669	1116	39	1	3162	1	FANCI	15	89847144	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	44399101	89847144	12684248	94	6432											
C15orf32	145858	broad.mit.edu	37	15	93015580	93015580	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr15:93015580C>T	ENST00000333334.2	+	1	697	c.202C>T	c.(202-204)Cac>Tac	p.H68Y	C15orf32_ENST00000556865.1_Missense_Mutation_p.H68Y|RP11-763K15.1_ENST00000554440.1_lincRNA	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	68								p.H68N(1)|p.H68Y(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGGGGTGTTGCAcccatttta	0.468																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	15											87	84	85					15																	93015580		2198	4298	6496	90816584	SO:0001583	missense	145858				CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.202C>T	15.37:g.93015580C>T	ENSP00000330267:p.His68Tyr		90816584	C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	C	1.201	-0.632371	0.03584	.	.	ENSG00000183643	ENST00000333334	T	0.53206	0.63	1.9	-1.18	0.09617	.	.	.	.	.	T	0.21227	0.0511	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16958	-1.0385	9	0.87932	D	0	.	5.1151	0.14831	0.0:0.4902:0.0:0.5098	.	68	Q32M92	CO032_HUMAN	Y	68	ENSP00000330267:H68Y	ENSP00000330267:H68Y	H	+	1	0	C15orf32	90816584	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	-0.098000	0.11024	-0.355000	0.08199	-1.008000	0.02478	CAC		0.468	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040		T	93015580	C	T	93015580	3	4	117	1	0	0	0	0	1	0	0	0	1790	710	25	2	204	2	C15orf32	15	93015580	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	3168436	93015580	9515812	95	6433											
TP53	7157	broad.mit.edu	37	17	7578369	7578369	+	Splice_Site	SNP	A	A	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr17:7578369A>C	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(17)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CCAGCTGCTCACCATCGCTAT	0.632		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"	31	Unknown(17)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	liver(8)|upper_aerodigestive_tract(7)|bone(4)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)	17											47	46	46					17																	7578369		2203	4300	6503	7519094	SO:0001630	splice_region_variant	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.559+1T>G	17.37:g.7578369A>C			7519094	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.410047	0.25465	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7283	0.57183	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519094	0.997000	0.39634	0.970000	0.41538	0.209000	0.24338	3.178000	0.50879	1.967000	0.57214	0.533000	0.62120	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7578369	A	C	7578369	5	2	117	1	0	0	0	0	0	0	1	0	16381	173	6	5	737	5	TP53	17	7578369	Splice_Site	SNP	A	TCGA-13-0923-01A-01W-0420-08		7578369	73616841	96	6434											
ALDH3A2	224	broad.mit.edu	37	17	19575148	19575148	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr17:19575148C>T	ENST00000176643.6	+	9	1768	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L	ALDH3A2_ENST00000339618.4_Missense_Mutation_p.P441L|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.P441L|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.P441L|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.P441L			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	441					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)	p.P441L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					CTCAGATATCCTCCCAACAGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	17											111	122	119					17																	19575148		2203	4300	6503	19515740	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1322C>T	17.37:g.19575148C>T	ENSP00000176643:p.Pro441Leu		19515740	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150199	0.94645	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.83419	-1.68;-1.68;-1.72	6.06	6.06	0.98353	Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88101	0.2819	10	0.87932	D	0	-20.8917	19.6125	0.95613	0.0:1.0:0.0:0.0	.	441;441	P51648;P51648-2	AL3A2_HUMAN;.	L	441	ENSP00000176643:P441L;ENSP00000378942:P441L;ENSP00000345774:P441L	ENSP00000176643:P441L	P	+	2	0	ALDH3A2	19515740	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	6.568000	0.73987	2.879000	0.98667	0.650000	0.86243	CCT		0.393	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			T	19575148	C	T	19575148	3	4	117	1	0	0	0	0	1	0	0	0	498	681	24	2	1356	2	ALDH3A2	17	19575148	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	11996779	19575148	61620062	97	6435											
EFTUD2	9343	broad.mit.edu	37	17	42937325	42937325	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr17:42937325A>T	ENST00000426333.2	-	18	2105	c.1808T>A	c.(1807-1809)aTg>aAg	p.M603K	EFTUD2_ENST00000402521.3_Missense_Mutation_p.M568K|EFTUD2_ENST00000591382.1_Missense_Mutation_p.M603K|EFTUD2_ENST00000592576.1_Missense_Mutation_p.M593K	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	603					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.M603K(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCCATCAAGCATCTTGGGCAG	0.542																																					Ovarian(10;65 485 10258 29980 30707)											1	Substitution - Missense(1)	ovary(1)	17											146	128	134					17																	42937325		2203	4300	6503	40292851	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1808T>A	17.37:g.42937325A>T	ENSP00000392094:p.Met603Lys		40292851	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	31	5.081237	0.94050	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.73897	-0.79;-0.79	5.45	5.45	0.79879	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.89326	0.6683	H	0.94222	3.51	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.65874	0.939;0.939	D	0.92371	0.5905	10	0.87932	D	0	-8.6049	15.5233	0.75881	1.0:0.0:0.0:0.0	.	593;603	B4DMC0;Q15029	.;U5S1_HUMAN	K	603;593;568	ENSP00000392094:M603K;ENSP00000385873:M568K	ENSP00000262414:M593K	M	-	2	0	EFTUD2	40292851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.297000	0.96120	2.071000	0.62044	0.454000	0.30748	ATG		0.542	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		T	42937325	A	T	42937325	3	4	117	1	0	0	0	0	1	0	0	0	4961	217	8	5	1154	5	EFTUD2	17	42937325	Missense_Mutation	SNP	A	TCGA-13-0923-01A-01W-0420-08	23362177	42937325	38257885	98	6436											
HOXB4	3214	broad.mit.edu	37	17	46655279	46655279	+	Missense_Mutation	SNP	C	C	T	rs532963118		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr17:46655279C>T	ENST00000332503.5	-	1	2194	c.403G>A	c.(403-405)Gcg>Acg	p.A135T	HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000489475.1_Intron|MIR10A_ENST00000385043.1_RNA	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	135	Pro-rich (part of the transcriptional activation domain).				anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A135T(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TCTTTGCACGCGGAGTGGGAC	0.716																																																1	Substitution - Missense(1)	ovary(1)	17											23	27	26					17																	46655279		2150	4191	6341	44010278	SO:0001583	missense	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.403G>A	17.37:g.46655279C>T	ENSP00000328928:p.Ala135Thr		44010278	Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334339	0.41297	.	.	ENSG00000182742	ENST00000332503	D	0.91407	-2.84	3.86	1.54	0.23209	.	0.581154	0.16414	U	0.215473	T	0.80121	0.4565	L	0.27053	0.805	0.32949	D	0.519471	B	0.23650	0.089	B	0.17433	0.018	T	0.71948	-0.4438	10	0.19590	T	0.45	.	5.5032	0.16840	0.4766:0.3597:0.1637:0.0	.	135	P17483	HXB4_HUMAN	T	135	ENSP00000328928:A135T	ENSP00000328928:A135T	A	-	1	0	HOXB4	44010278	0.944000	0.32072	1.000000	0.80357	0.906000	0.53458	0.013000	0.13310	0.595000	0.29777	0.491000	0.48974	GCG		0.716	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			T	46655279	C	T	46655279	3	4	117	1	0	0	0	0	1	0	0	0	7303	768	27	1	360	1	HOXB4	17	46655279	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	3717954	46655279	34539931	99	6437											
ZNF823	55552	broad.mit.edu	37	19	11832769	11832769	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr19:11832769T>C	ENST00000341191.6	-	4	1733	c.1580A>G	c.(1579-1581)tAt>tGt	p.Y527C	ZNF823_ENST00000545749.1_Missense_Mutation_p.Y345C	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y527C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CTTACATTCATATGGCTTCTC	0.378										HNSCC(68;0.2)																																						1	Substitution - Missense(1)	ovary(1)	19											60	63	62					19																	11832769		2201	4299	6500	11693769	SO:0001583	missense	55552			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1580A>G	19.37:g.11832769T>C	ENSP00000340683:p.Tyr527Cys		11693769	A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	N	14.49	2.552428	0.45487	.	.	ENSG00000197933	ENST00000545749;ENST00000341191	T;T	0.25414	1.8;1.8	0.856	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46229	0.1382	M	0.80422	2.495	0.21553	N	0.999645	D	0.89917	1.0	D	0.97110	1.0	T	0.19418	-1.0306	9	0.87932	D	0	.	4.3208	0.11016	0.2965:0.0:0.0:0.7035	.	527	P16415	ZN823_HUMAN	C	345;527	ENSP00000440162:Y345C;ENSP00000340683:Y527C	ENSP00000340683:Y527C	Y	-	2	0	ZNF823	11693769	0.000000	0.05858	0.035000	0.18076	0.743000	0.42351	-0.077000	0.11394	0.630000	0.30394	0.254000	0.18369	TAT		0.378	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		C	11832769	T	C	11832769	3	2	117	1	0	0	0	0	1	0	0	0	18179	1406	49	4	256	4	ZNF823	19	11832769	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08		11832769	47296214	100	6438											
RHPN2	85415	broad.mit.edu	37	19	33482730	33482730	+	Splice_Site	SNP	G	G	A	rs370334049		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr19:33482730G>A	ENST00000254260.3	-	13	1678	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	RHPN2_ENST00000400226.4_Splice_Site_p.S397L|RHPN2_ENST00000588683.1_5'Flank	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	548	PDZ.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.S548L(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGTGCTTACCGAGGCAGAGCA	0.512																																																1	Substitution - Missense(1)	ovary(1)	19											63	54	57					19																	33482730		2203	4300	6503	38174570	SO:0001630	splice_region_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1644+1C>T	19.37:g.33482730G>A			38174570	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	8.835	0.940899	0.18281	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.29917	1.55;1.55	5.22	2.99	0.34606	PDZ/DHR/GLGF (2);	0.153802	0.64402	D	0.000020	T	0.22589	0.0545	L	0.34521	1.04	0.29166	N	0.877422	B	0.11235	0.004	B	0.06405	0.002	T	0.13575	-1.0504	10	0.49607	T	0.09	3.3248	10.4349	0.44430	0.0:0.1456:0.7031:0.1514	.	548	Q8IUC4	RHPN2_HUMAN	L	548;278;397	ENSP00000254260:S548L;ENSP00000402244:S397L	ENSP00000254260:S548L	S	-	2	0	RHPN2	38174570	1.000000	0.71417	0.913000	0.36048	0.104000	0.19210	7.030000	0.76484	0.657000	0.30906	-0.165000	0.13383	TCG		0.512	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	Missense_Mutation	A	33482730	G	A	33482730	5	1	117	1	0	0	0	0	0	0	1	0	13354	1072	37	1	429	1	RHPN2	19	33482730	Splice_Site	SNP	G	TCGA-13-0923-01A-01W-0420-08	21649961	33482730	25646253	101	6439											
ZNF222	7673	broad.mit.edu	37	19	44536133	44536133	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr19:44536133G>T	ENST00000187879.8	+	4	468	c.306G>T	c.(304-306)caG>caT	p.Q102H	ZNF222_ENST00000391960.3_Missense_Mutation_p.Q142H|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q102H(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ACCCCTCCCAGATTAAAGCAA	0.388																																																1	Substitution - Missense(1)	ovary(1)	19											117	115	116					19																	44536133		2203	4300	6503	49227973	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.306G>T	19.37:g.44536133G>T	ENSP00000187879:p.Gln102His		49227973	G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	2.013	-0.426582	0.04701	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.06142	3.34;3.42	1.62	-3.24	0.05094	.	.	.	.	.	T	0.04318	0.0119	L	0.35854	1.095	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.19148	0.024;0.004	T	0.42258	-0.9462	9	0.45353	T	0.12	.	0.6701	0.00857	0.1633:0.1843:0.2372:0.4151	.	142;102	G5E9B9;Q9UK12	.;ZN222_HUMAN	H	142;102;48	ENSP00000375822:Q142H;ENSP00000187879:Q102H	ENSP00000187879:Q102H	Q	+	3	2	ZNF222	49227973	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.811000	0.04500	-1.551000	0.01706	-1.043000	0.02367	CAG		0.388	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			T	44536133	G	T	44536133	3	4	117	1	0	0	0	0	1	0	0	0	17776	933	33	3	459	3	ZNF222	19	44536133	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	11053403	44536133	14592850	102	6440											
IL4I1	259307	broad.mit.edu	37	19	50398386	50398386	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr19:50398386G>C	ENST00000391826.2	-	4	446	c.304C>G	c.(304-306)Cgg>Ggg	p.R102G	IL4I1_ENST00000341114.3_Missense_Mutation_p.R124G|IL4I1_ENST00000595948.1_Missense_Mutation_p.R124G	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	102						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)	p.R124G(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	TTCTGGTCCCGGTAGGTGAAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											107	88	94					19																	50398386		2203	4300	6503	55090198	SO:0001583	missense	259307			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.304C>G	19.37:g.50398386G>C	ENSP00000375702:p.Arg102Gly		55090198	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741779	0.69304	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	D;D	0.93906	-3.31;-3.31	4.89	0.994	0.19832	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.96402	0.8826	M	0.88906	2.99	0.36768	D	0.88364	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.987;0.992;0.995	D	0.96983	0.9716	10	0.87932	D	0	-59.165	11.3184	0.49405	0.0:0.0:0.5229:0.4771	.	124;124;102	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	G	124;102	ENSP00000342557:R124G;ENSP00000375702:R102G	ENSP00000342557:R124G	R	-	1	2	IL4I1	55090198	1.000000	0.71417	0.964000	0.40570	0.965000	0.64279	2.919000	0.48836	0.455000	0.26910	0.478000	0.44815	CGG		0.632	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			C	50398386	G	C	50398386	3	2	117	1	0	0	0	0	1	0	0	0	7697	1115	39	3	1419	3	IL4I1	19	50398386	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	5862253	50398386	8730597	103	6441											
CNOT3	4849	broad.mit.edu	37	19	54657466	54657466	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr19:54657466G>C	ENST00000406403.1	+	16	3655	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	CNOT3_ENST00000221232.5_Missense_Mutation_p.Q684H|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	684	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.Q684H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTAAGGCACAGTATCTGGCAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											127	98	108					19																	54657466		2203	4300	6503	59349278	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2052G>C	19.37:g.54657466G>C	ENSP00000383954:p.Gln684His		59349278	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.093829|4.093829	0.76870|0.76870	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126|ENST00000457463	T;T;T|.	0.60040|.	0.22;0.22;0.22|.	4.14|4.14	4.14|4.14	0.48551|0.48551	NOT2/NOT3/NOT5 (1);|.	0.071575|.	0.64402|.	D|.	0.000017|.	D|D	0.88009|0.88009	0.6322|0.6322	H|H	0.97587|0.97587	4.035|4.035	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.79108|.	0.992|.	D|D	0.92544|0.92544	0.6044|0.6044	10|5	0.87932|.	D|.	0|.	-15.9521|-15.9521	16.2357|16.2357	0.82371|0.82371	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	684|.	O75175|.	CNOT3_HUMAN|.	H|L	684;684;2|216	ENSP00000221232:Q684H;ENSP00000383954:Q684H;ENSP00000420064:Q2H|.	ENSP00000221232:Q684H|.	Q|V	+|+	3|1	2|0	CNOT3|CNOT3	59349278|59349278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.254000|9.254000	0.95512|0.95512	2.304000|2.304000	0.77564|0.77564	0.549000|0.549000	0.68633|0.68633	CAG|GTA		0.602	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		C	54657466	G	C	54657466	3	2	117	1	0	0	0	0	1	0	0	0	3620	1020	36	3	2114	3	CNOT3	19	54657466	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	4259080	54657466	4471517	104	6442											
TNNT1	7138	broad.mit.edu	37	19	55648496	55648496	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr19:55648496C>G	ENST00000588981.1	-	11	790	c.586G>C	c.(586-588)Gac>Cac	p.D196H	TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000587758.1_Missense_Mutation_p.D185H|TNNT1_ENST00000587465.2_Missense_Mutation_p.D126H|TNNT1_ENST00000356783.5_Missense_Mutation_p.D185H|TNNT1_ENST00000291901.8_Missense_Mutation_p.D196H|TNNT1_ENST00000536926.1_Missense_Mutation_p.D185H|TNNT1_ENST00000585321.2_Missense_Mutation_p.D126H|TNNT1_ENST00000588426.1_Missense_Mutation_p.D93H	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	196					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)	p.D196H(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CCCATGTAGTCAATGTCCAGA	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											66	55	59					19																	55648496		2203	4300	6503	60340308	SO:0001583	missense	7138				CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.586G>C	19.37:g.55648496C>G	ENSP00000467176:p.Asp196His		60340308	O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543420	0.65198	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693	D;D;D	0.93189	-3.18;-3.18;-3.18	3.94	3.94	0.45596	.	0.186234	0.44285	D	0.000479	D	0.96555	0.8876	M	0.88979	2.995	0.52099	D	0.999941	D;D;D;D	0.69078	0.98;0.997;0.988;0.98	P;D;D;P	0.63703	0.847;0.912;0.917;0.847	D	0.97274	0.9913	10	0.87932	D	0	-29.095	13.8404	0.63435	0.0:1.0:0.0:0.0	.	185;196;196;185	P13805-2;P13805-3;P13805;F5H1H4	.;.;TNNT1_HUMAN;.	H	196;185;185;126	ENSP00000291901:D196H;ENSP00000349233:D185H;ENSP00000439640:D185H	ENSP00000291901:D196H	D	-	1	0	TNNT1	60340308	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	6.665000	0.74442	1.930000	0.55929	0.484000	0.47621	GAC		0.627	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		G	55648496	C	G	55648496	3	3	117	1	0	0	0	0	1	0	0	0	16330	826	29	3	266	3	TNNT1	19	55648496	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	991030	55648496	3480487	105	6443											
ZNF586	54807	broad.mit.edu	37	19	58290195	58290195	+	Silent	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr19:58290195A>G	ENST00000396154.2	+	3	413	c.240A>G	c.(238-240)ggA>ggG	p.G80G	ZNF586_ENST00000391702.3_Silent_p.G37G|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.E38G|ZNF586_ENST00000598183.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G80G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGACCAGGGAGGTCATAGTG	0.443																																																1	Substitution - coding silent(1)	ovary(1)	19											73	71	71					19																	58290195		2008	4198	6206	62982007	SO:0001819	synonymous_variant	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.240A>G	19.37:g.58290195A>G			62982007	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Silent	SNP	ENST00000396154.2	37	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	A	9.449	1.090181	0.20390	.	.	ENSG00000083828	ENST00000396150	T	0.50813	0.73	1.75	1.75	0.24633	.	.	.	.	.	T	0.39306	0.1073	.	.	.	0.20873	N	0.999837	P	0.34587	0.458	B	0.40410	0.328	T	0.26883	-1.0090	7	.	.	.	.	8.2724	0.31853	1.0:0.0:0.0:0.0	.	38	A0JLV8	.	G	38	ENSP00000379454:E38G	.	E	+	2	0	ZNF586	62982007	0.001000	0.12720	0.011000	0.14972	0.068000	0.16541	1.118000	0.31246	0.776000	0.33473	0.459000	0.35465	GAG		0.443	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		G	58290195	A	G	58290195	2	3	117	1	0	0	0	0	0	0	0	1	18019	291	11	4		4	ZNF586	19	58290195	Silent	SNP	A	TCGA-13-0923-01A-01W-0420-08	2641699	58290195	838788	106	6444											
DEFB118	117285	broad.mit.edu	37	20	29960873	29960873	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr20:29960873C>A	ENST00000253381.2	+	2	305	c.272C>A	c.(271-273)aCa>aAa	p.T91K		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	91					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.T91K(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGGTTCACGACAGACTACTTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	20											120	112	115					20																	29960873		2203	4300	6503	29424534	SO:0001583	missense	117285			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.272C>A	20.37:g.29960873C>A	ENSP00000253381:p.Thr91Lys		29424534	Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114014	0.37339	.	.	ENSG00000131068	ENST00000253381	T	0.09255	3.0	2.3	0.189	0.15119	.	.	.	.	.	T	0.06371	0.0164	N	0.24115	0.695	0.09310	N	1	P	0.41978	0.767	B	0.37780	0.258	T	0.30650	-0.9971	9	0.59425	D	0.04	.	4.5571	0.12141	0.2565:0.4932:0.2504:0.0	.	91	Q96PH6	DB118_HUMAN	K	91	ENSP00000253381:T91K	ENSP00000253381:T91K	T	+	2	0	DEFB118	29424534	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.846000	0.00735	0.078000	0.16900	-0.181000	0.13052	ACA		0.453	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		A	29960873	C	A	29960873	3	1	117	1	0	0	0	0	1	0	0	0	4406	478	17	3	278	3	DEFB118	20	29960873	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08		29960873	33064647	107	6445											
TTLL9	164395	broad.mit.edu	37	20	30497691	30497691	+	Missense_Mutation	SNP	G	G	C	rs368404184		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr20:30497691G>C	ENST00000375938.4	+	6	723	c.470G>C	c.(469-471)cGc>cCc	p.R157P	TTLL9_ENST00000310998.4_Missense_Mutation_p.R107P|TTLL9_ENST00000375921.2_Missense_Mutation_p.R107P|TTLL9_ENST00000375922.4_Missense_Mutation_p.R107P|TTLL9_ENST00000535842.1_Missense_Mutation_p.R157P|TTLL9_ENST00000375934.4_Missense_Mutation_p.R139P			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	157	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.R157P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAGGAGTTTCGCAAAAACCCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	20											76	74	74					20																	30497691		1980	4187	6167	29961352	SO:0001583	missense	164395			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.470G>C	20.37:g.30497691G>C	ENSP00000365105:p.Arg157Pro		29961352	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078902	0.76528	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.41;3.16;3.16	5.51	5.51	0.81932	.	0.349068	0.31438	N	0.007659	T	0.25680	0.0625	L	0.61218	1.895	0.52099	D	0.999948	D	0.58970	0.984	D	0.64144	0.922	T	0.00126	-1.2020	10	0.87932	D	0	.	16.5728	0.84629	0.0:0.0:1.0:0.0	.	157	Q3SXZ7	TTLL9_HUMAN	P	157;157;107;107;102;139;107	ENSP00000365105:R157P;ENSP00000442515:R157P;ENSP00000308980:R107P;ENSP00000365086:R107P;ENSP00000365100:R139P;ENSP00000365088:R107P	ENSP00000308980:R107P	R	+	2	0	TTLL9	29961352	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.953000	0.56699	2.592000	0.87571	0.561000	0.74099	CGC		0.562	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		C	30497691	G	C	30497691	3	2	117	1	0	0	0	0	1	0	0	0	16734	1087	38	3	488	3	TTLL9	20	30497691	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	536818	30497691	32527829	108	6446											
GSS	2937	broad.mit.edu	37	20	33530370	33530370	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr20:33530370G>C	ENST00000216951.2	-	5	510	c.412C>G	c.(412-414)Cca>Gca	p.P138A	GSS_ENST00000541098.1_Missense_Mutation_p.P10A|GSS_ENST00000451957.2_Intron	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	138					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.P138A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTCAGGGCTGGGGAGCCATCT	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											67	60	63					20																	33530370		2203	4300	6503	32994031	SO:0001583	missense	2937				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.412C>G	20.37:g.33530370G>C	ENSP00000216951:p.Pro138Ala		32994031	B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	3.330	-0.136812	0.06711	.	.	ENSG00000100983	ENST00000216951;ENST00000541098	D;D	0.90197	-2.63;-2.63	5.77	3.76	0.43208	Glutathione synthase, N-terminal, eukaryotic (1);	0.451624	0.27004	N	0.021413	T	0.81361	0.4806	N	0.26092	0.79	0.38830	D	0.95583	B	0.02656	0.0	B	0.01281	0.0	T	0.71178	-0.4669	10	0.05351	T	0.99	-0.9893	12.213	0.54389	0.0:0.1332:0.7328:0.134	.	138	P48637	GSHB_HUMAN	A	138;10	ENSP00000216951:P138A;ENSP00000439744:P10A	ENSP00000216951:P138A	P	-	1	0	GSS	32994031	0.001000	0.12720	1.000000	0.80357	0.905000	0.53344	-0.131000	0.10482	0.715000	0.32103	0.655000	0.94253	CCA		0.622	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			C	33530370	G	C	33530370	3	2	117	1	0	0	0	0	1	0	0	0	6829	1232	43	3	1048	3	GSS	20	33530370	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	3032679	33530370	29495150	109	6447											
ADNP	23394	broad.mit.edu	37	20	49518641	49518641	+	Silent	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr20:49518641A>G	ENST00000396029.3	-	4	681	c.114T>C	c.(112-114)ttT>ttC	p.F38F	ADNP_ENST00000371602.4_Silent_p.F38F|ADNP_ENST00000396032.3_Silent_p.F38F|ADNP_ENST00000349014.3_Silent_p.F38F	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	38					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F38F(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CAAATTGTTTAAAATCCTAGA	0.363																																																1	Substitution - coding silent(1)	ovary(1)	20											93	94	94					20																	49518641		2203	4300	6503	48952048	SO:0001819	synonymous_variant	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.114T>C	20.37:g.49518641A>G			48952048	E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	CCDS13433.1																																																																																				0.363	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		G	49518641	A	G	49518641	2	3	117	1	0	0	0	0	0	0	0	1	323	359	13	4		4	ADNP	20	49518641	Silent	SNP	A	TCGA-13-0923-01A-01W-0420-08	15988271	49518641	13506879	110	6448											
CYP24A1	1591	broad.mit.edu	37	20	52782304	52782304	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr20:52782304T>A	ENST00000216862.3	-	5	1102	c.709A>T	c.(709-711)Aac>Tac	p.N237Y	CYP24A1_ENST00000395955.3_Missense_Mutation_p.N237Y|CYP24A1_ENST00000395954.3_Missense_Mutation_p.N95Y	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	237					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.N237Y(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ATGATGAAGTTCACAGCTTCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	20											129	116	120					20																	52782304		2203	4300	6503	52215711	SO:0001583	missense	1591			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.709A>T	20.37:g.52782304T>A	ENSP00000216862:p.Asn237Tyr		52215711	Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547311	0.45383	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.69306	-0.39;-0.39;-0.39	5.37	3.1	0.35709	.	0.349888	0.32401	N	0.006149	T	0.67590	0.2909	L	0.43152	1.355	0.40762	D	0.983011	D;D;P	0.60160	0.987;0.97;0.948	P;P;P	0.60789	0.879;0.879;0.83	T	0.67883	-0.5555	10	0.62326	D	0.03	-0.6024	5.0208	0.14360	0.0:0.1605:0.1565:0.683	.	237;237;95	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	Y	237;237;95	ENSP00000216862:N237Y;ENSP00000379285:N237Y;ENSP00000379284:N95Y	ENSP00000216862:N237Y	N	-	1	0	CYP24A1	52215711	1.000000	0.71417	0.999000	0.59377	0.451000	0.32288	2.637000	0.46553	0.984000	0.38629	0.455000	0.32223	AAC		0.378	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			A	52782304	T	A	52782304	3	1	117	1	0	0	0	0	1	0	0	0	4154	1783	62	5	863	5	CYP24A1	20	52782304	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08	3263663	52782304	10243216	111	6449											
TAF4	6874	broad.mit.edu	37	20	60589749	60589749	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chr20:60589749G>C	ENST00000252996.4	-	2	1374	c.1375C>G	c.(1375-1377)Cga>Gga	p.R459G	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	459					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R459G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTCTCACTTCGGACGAGGACC	0.627																																																1	Substitution - Missense(1)	ovary(1)	20											90	82	85					20																	60589749		2203	4300	6503	60023144	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1375C>G	20.37:g.60589749G>C	ENSP00000252996:p.Arg459Gly		60023144	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	g	12.96	2.094641	0.36952	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.36878	1.28;1.23	4.97	3.03	0.35002	.	0.134840	0.51477	D	0.000098	T	0.52289	0.1725	M	0.71206	2.165	0.58432	D	0.999996	D	0.65815	0.995	P	0.61592	0.891	T	0.48906	-0.8993	10	0.20519	T	0.43	-14.6762	14.1858	0.65605	0.0:0.0:0.7317:0.2682	.	459	O00268	TAF4_HUMAN	G	459;323	ENSP00000252996:R459G;ENSP00000399091:R323G	ENSP00000252996:R459G	R	-	1	2	TAF4	60023144	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	6.014000	0.70784	0.525000	0.28522	-1.316000	0.01300	CGA		0.627	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		C	60589749	G	C	60589749	3	2	117	1	0	0	0	0	1	0	0	0	15526	1124	39	3	1938	3	TAF4	20	60589749	Missense_Mutation	SNP	G	TCGA-13-0923-01A-01W-0420-08	7807445	60589749	2435771	112	6450											
GRPR	2925	broad.mit.edu	37	X	16168743	16168743	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chrX:16168743T>A	ENST00000380289.2	+	2	1127	c.729T>A	c.(727-729)aaT>aaA	p.N243K	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	243					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.N243K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GTGCTTACAATCTTCCCGTGG	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											92	82	85					X																	16168743		2203	4300	6503	16078664	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.729T>A	X.37:g.16168743T>A	ENSP00000369643:p.Asn243Lys		16078664	B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734092	0.69189	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.70045	-0.45	5.48	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.194001	0.52532	D	0.000064	T	0.70343	0.3213	L	0.61036	1.89	0.48762	D	0.999701	P	0.51933	0.949	P	0.58780	0.845	T	0.64449	-0.6405	10	0.22706	T	0.39	-7.5626	8.4051	0.32610	0.0:0.4554:0.0:0.5446	.	243	P30550	GRPR_HUMAN	K	243;32	ENSP00000369643:N243K	ENSP00000369643:N243K	N	+	3	2	GRPR	16078664	0.986000	0.35501	0.982000	0.44146	0.996000	0.88848	0.589000	0.23939	0.237000	0.21200	0.486000	0.48141	AAT		0.418	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		A	16168743	T	A	16168743	3	1	117	1	0	0	0	0	1	0	0	0	6808	1432	50	5	735	5	GRPR	23	16168743	Missense_Mutation	SNP	T	TCGA-13-0923-01A-01W-0420-08		16168743	139101817	113	6451											
PHKA2	5256	broad.mit.edu	37	X	18969308	18969327	+	Frame_Shift_Del	DEL	GTGCCACAGGTGGCGGTGTT	GTGCCACAGGTGGCGGTGTT	-	rs201548823		TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	GTGCCACAGGTGGCGGTGTT	GTGCCACAGGTGGCGGTGTT	-	-	GTGCCACAGGTGGCGGTGTT	GTGCCACAGGTGGCGGTGTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chrX:18969308_18969327delGTGCCACAGGTGGCGGTGTT	ENST00000379942.4	-	4	1014_1033	c.349_368delAACACCGCCACCTGTGGCAC	c.(349-369)aacaccgccacctgtggcacgfs	p.NTATCGT117fs		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	117					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.N117fs*38(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCCCACCACCGTGCCACAGGTGGCGGTGTTGTACTTGGCG	0.609																																																1	Deletion - Frameshift(1)	ovary(1)	X	GRCh37	CI075673	PHKA2	I																																				18879248	SO:0001589	frameshift_variant	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.349_368delAACACCGCCACCTGTGGCAC	X.37:g.18969308_18969327delGTGCCACAGGTGGCGGTGTT	ENSP00000369274:p.Asn117fs		18879229	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Frame_Shift_Del	DEL	ENST00000379942.4	37	CCDS14190.1																																																																																				0.609	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		-	18969327	GTGCCACAGGTGGCGGTGTT	-	18969308	7	5	117	1	0	1	0	1	0	0	0	0	11844	1145	40	0	3459	0	PHKA2	23	18969308	Frame_Shift_Del	DEL	GTGCCACAGGTGGCGGTGTT	TCGA-13-0923-01A-01W-0420-08	2800565	18969308	136301252	114	6452											
HTR2C	3358	broad.mit.edu	37	X	114141164	114141164	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chrX:114141164C>T	ENST00000276198.1	+	6	1291	c.563C>T	c.(562-564)cCt>cTt	p.P188L	HTR2C_ENST00000371951.1_Missense_Mutation_p.P188L|HTR2C_ENST00000371950.3_Silent_p.S156S	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	188					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P188L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTATCAGTTCCTATCCCTGTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	X											112	102	105					X																	114141164		2203	4300	6503	114047420	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.563C>T	X.37:g.114141164C>T	ENSP00000276198:p.Pro188Leu		114047420	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266182	0.80358	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.44482	0.92;0.92	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61811	-0.6986	10	0.46703	T	0.11	.	14.6716	0.68948	0.0:1.0:0.0:0.0	.	188	P28335	5HT2C_HUMAN	L	188	ENSP00000276198:P188L;ENSP00000361019:P188L	ENSP00000276198:P188L	P	+	2	0	HTR2C	114047420	1.000000	0.71417	0.867000	0.34043	0.950000	0.60333	7.715000	0.84713	2.135000	0.66039	0.538000	0.68166	CCT		0.428	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		T	114141164	C	T	114141164	3	4	117	1	0	0	0	0	1	0	0	0	7443	681	24	2	577	2	HTR2C	23	114141164	Missense_Mutation	SNP	C	TCGA-13-0923-01A-01W-0420-08	95171856	114141164	41129396	115	6453											
GRIA3	2892	broad.mit.edu	37	X	122532558	122532558	+	Silent	SNP	A	A	G			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chrX:122532558A>G	ENST00000371251.1	+	7	1036	c.984A>G	c.(982-984)cgA>cgG	p.R328R	GRIA3_ENST00000542149.1_Silent_p.R328R|GRIA3_ENST00000371256.5_Silent_p.R328R|GRIA3_ENST00000541091.1_Silent_p.R312R|GRIA3_ENST00000264357.5_Silent_p.R328R			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	328					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.R328R(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGAGGCAGCGAGTAGATGTGT	0.463																																																2	Substitution - coding silent(2)	ovary(2)	X											112	87	96					X																	122532558		2203	4300	6503	122360239	SO:0001819	synonymous_variant	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.984A>G	X.37:g.122532558A>G			122360239	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	CCDS14604.1																																																																																				0.463	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		G	122532558	A	G	122532558	2	3	117	1	0	0	0	0	0	0	0	1	6769	291	11	4		4	GRIA3	23	122532558	Silent	SNP	A	TCGA-13-0923-01A-01W-0420-08	8391394	122532558	32738002	116	6454											
ZIC3	7547	broad.mit.edu	37	X	136651155	136651155	+	Silent	SNP	C	C	T			TCGA-13-0923-01A-01W-0420-08	TCGA-13-0923-10A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4126360c-2b59-4614-b822-69a0d44fdeb5	e47c5482-5de2-4773-81b5-9922261823f6	g.chrX:136651155C>T	ENST00000287538.5	+	2	1705	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	ZIC3_ENST00000370606.3_Silent_p.D385D|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	385					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D385D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCGGACAAGCCCTATA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	X											203	171	182					X																	136651155		2203	4300	6503	136478821	SO:0001819	synonymous_variant	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1155C>T	X.37:g.136651155C>T			136478821	B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	CCDS14663.1																																																																																				0.498	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			T	136651155	C	T	136651155	2	4	117	1	0	0	0	0	0	0	0	1	17680	477	17	2		2	ZIC3	23	136651155	Silent	SNP	C	TCGA-13-0923-01A-01W-0420-08	14118597	136651155	18619405	117	6455											
TESK2	10420	genome.wustl.edu	37	1	45887413	45887413	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr1:45887413G>A	ENST00000372086.3	-	3	728	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.H110Y|TESK2_ENST00000538496.1_Missense_Mutation_p.H27Y|TESK2_ENST00000341771.6_Missense_Mutation_p.H110Y|TESK2_ENST00000451835.2_Missense_Mutation_p.H110Y	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.H110Y(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATGTTGGGATGGGAGAGTCTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											283	258	266					1																	45887413		1906	4126	6032	45660000	SO:0001583	missense	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.328C>T	1.37:g.45887413G>A	ENSP00000361158:p.His110Tyr		45660000	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630887	0.87660	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496;ENST00000451835	T;T;T;T;T	0.78707	-1.2;-0.74;-1.2;-0.74;-1.2	5.32	5.32	0.75619	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.92149	0.7511	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94313	0.7547	10	0.87932	D	0	-18.2408	18.1306	0.89600	0.0:0.0:1.0:0.0	.	110;110;110	B4DRH9;Q96S53-3;Q96S53	.;.;TESK2_HUMAN	Y	110;110;110;110;27;110	ENSP00000361156:H110Y;ENSP00000361158:H110Y;ENSP00000343940:H110Y;ENSP00000441746:H27Y;ENSP00000397244:H110Y	ENSP00000343940:H110Y	H	-	1	0	TESK2	45660000	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.315000	0.96313	2.652000	0.90054	0.561000	0.74099	CAT		0.428	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		A	45887413	G	A	45887413	3	1	118	1	0	0	0	0	1	0	0	0	15768	1348	47	2	1423	2	TESK2	1	45887413	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09		45887413	203363208	1	6456											
FLG	2312	genome.wustl.edu	37	1	152281309	152281309	+	Missense_Mutation	SNP	C	C	T	rs369885488	byFrequency	TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr1:152281309C>T	ENST00000368799.1	-	3	6088	c.6053G>A	c.(6052-6054)aGa>aAa	p.R2018K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2018	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R2018K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGAGTGTCTGGAGCTGTC	0.552									Ichthyosis																																							1	Substitution - Missense(1)	ovary(1)	1											636	519	558					1																	152281309		2203	4300	6503	150547933	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6053G>A	1.37:g.152281309C>T	ENSP00000357789:p.Arg2018Lys		150547933	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	7.634	0.679400	0.14907	.	.	ENSG00000143631	ENST00000368799	T	0.07216	3.21	3.73	0.594	0.17485	.	.	.	.	.	T	0.01870	0.0059	L	0.56769	1.78	0.09310	N	1	P	0.47841	0.901	B	0.40565	0.333	T	0.31110	-0.9955	9	0.05351	T	0.99	.	5.754	0.18162	0.0:0.5025:0.3848:0.1127	.	2018	P20930	FILA_HUMAN	K	2018	ENSP00000357789:R2018K	ENSP00000357789:R2018K	R	-	2	0	FLG	150547933	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.853000	0.27777	0.024000	0.15214	-0.225000	0.12378	AGA		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152281309	C	T	152281309	3	4	118	1	0	0	0	0	1	0	0	0	5922	913	32	2	6136	2	FLG	1	152281309	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	106393896	152281309	96969312	2	6457											
ARHGEF11	9826	genome.wustl.edu	37	1	156909388	156909388	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr1:156909388C>T	ENST00000361409.2	-	36	4670	c.3928G>A	c.(3928-3930)Gat>Aat	p.D1310N	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.D726N|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D1350N	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1310					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1350N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTGAAGCATCTTCAGCCAGA	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											81	86	84					1																	156909388		2203	4300	6503	155176012	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3928G>A	1.37:g.156909388C>T	ENSP00000354644:p.Asp1310Asn		155176012	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053444	0.36181	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.66099	-0.18;-0.19;-0.09	4.55	2.6	0.31112	.	0.138717	0.32868	N	0.005546	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	B;B;B	0.18013	0.025;0.006;0.003	B;B;B	0.17433	0.018;0.008;0.009	T	0.22312	-1.0220	10	0.52906	T	0.07	-6.1357	11.9242	0.52810	0.0:0.6619:0.3381:0.0	.	726;1310;1350	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	N	1350;1310;726	ENSP00000357177:D1350N;ENSP00000354644:D1310N;ENSP00000313470:D726N	ENSP00000313470:D726N	D	-	1	0	ARHGEF11	155176012	0.859000	0.29813	0.094000	0.20943	0.781000	0.44180	1.504000	0.35726	0.472000	0.27344	0.561000	0.74099	GAT		0.502	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		T	156909388	C	T	156909388	3	4	118	1	0	0	0	0	1	0	0	0	896	913	32	2	660	2	ARHGEF11	1	156909388	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	4628079	156909388	92341233	3	6458											
RGS18	64407	genome.wustl.edu	37	1	192128415	192128415	+	Missense_Mutation	SNP	G	G	A	rs201783745		TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr1:192128415G>A	ENST00000367460.3	+	2	366	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	62					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R62H(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGACACCCGCTCCAGTAGA	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											47	51	49					1																	192128415		2203	4300	6503	190395038	SO:0001583	missense	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.185G>A	1.37:g.192128415G>A	ENSP00000356430:p.Arg62His		190395038	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	0.777	-0.763574	0.02996	.	.	ENSG00000150681	ENST00000367460	T	0.50548	0.74	5.88	-1.3	0.09259	.	0.643725	0.18259	N	0.146710	T	0.13030	0.0316	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.29301	T	0.29	.	1.9276	0.03320	0.4129:0.2511:0.0716:0.2644	.	62	Q9NS28	RGS18_HUMAN	H	62	ENSP00000356430:R62H	ENSP00000356430:R62H	R	+	2	0	RGS18	190395038	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.066000	0.11598	-0.430000	0.07318	-0.300000	0.09419	CGC		0.353	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		A	192128415	G	A	192128415	3	1	118	1	0	0	0	0	1	0	0	0	13303	1087	38	1	191	1	RGS18	1	192128415	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09	35219027	192128415	57122206	4	6459											
IKBKE	9641	genome.wustl.edu	37	1	206653229	206653229	+	Silent	SNP	C	C	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr1:206653229C>T	ENST00000367120.3	+	11	1573	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	IKBKE_ENST00000537984.1_Silent_p.P315P	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	400	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.P400P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TGGACGTCCCCAAGTTCGTCC	0.592											OREG0014170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	1											41	40	40					1																	206653229		2203	4300	6503	204719852	SO:0001819	synonymous_variant	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1200C>T	1.37:g.206653229C>T		2161	204719852	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																				0.592	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			T	206653229	C	T	206653229	2	4	118	1	0	0	0	0	0	0	0	1	7612	581	21	2		2	IKBKE	1	206653229	Silent	SNP	C	TCGA-13-0924-01A-01W-0421-09	14524814	206653229	42597392	5	6460											
WDR35	57539	genome.wustl.edu	37	2	20153613	20153613	+	Missense_Mutation	SNP	C	C	T	rs200140363		TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr2:20153613C>T	ENST00000345530.3	-	13	1530	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	WDR35_ENST00000281405.4_Missense_Mutation_p.R461Q|WDR35_ENST00000416055.2_Missense_Mutation_p.R37Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	472					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.R472Q(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTTCTTTTCGAGACCGTGT	0.378													C|||	1	0.000199681	0	0	5008	,	,		17087	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2											206	196	199					2																	20153613		2203	4300	6503	20017094	SO:0001583	missense	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1415G>A	2.37:g.20153613C>T	ENSP00000314444:p.Arg472Gln		20017094	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.6	4.020374	0.75275	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.87256	-0.09;-0.08;-0.69;-2.23	5.65	5.65	0.86999	.	0.058236	0.64402	D	0.000004	D	0.87485	0.6189	L	0.58428	1.81	0.58432	D	0.999999	B;D;P;P	0.62365	0.383;0.991;0.607;0.88	B;P;B;B	0.48677	0.063;0.586;0.107;0.34	D	0.84190	0.0444	10	0.11794	T	0.64	-10.9221	18.7155	0.91673	0.0:1.0:0.0:0.0	.	472;461;472;37	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	Q	472;461;37;7	ENSP00000314444:R472Q;ENSP00000281405:R461Q;ENSP00000399159:R37Q;ENSP00000404409:R7Q	ENSP00000281405:R461Q	R	-	2	0	WDR35	20017094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.803000	0.62546	2.672000	0.90937	0.561000	0.74099	CGA		0.378	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		T	20153613	C	T	20153613	3	4	118	1	0	0	0	0	1	0	0	0	17289	884	31	1	2194	1	WDR35	2	20153613	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09		20153613	223045760	6	6461											
APOB	338	genome.wustl.edu	37	2	21228859	21228859	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr2:21228859C>G	ENST00000233242.1	-	26	11008	c.10881G>C	c.(10879-10881)aaG>aaC	p.K3627N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3627					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.K3627N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTGGTTCTTAGTGTTAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											59	57	58					2																	21228859		2203	4300	6503	21082364	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10881G>C	2.37:g.21228859C>G	ENSP00000233242:p.Lys3627Asn		21082364	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978201	0.53720	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.70631	-0.5	5.61	4.73	0.59995	.	0.809387	0.11201	N	0.588776	T	0.62392	0.2424	L	0.44542	1.39	0.80722	D	1	B	0.26318	0.146	B	0.30716	0.119	T	0.63761	-0.6564	10	0.59425	D	0.04	.	5.3506	0.16034	0.0:0.7264:0.0:0.2736	.	3627	P04114	APOB_HUMAN	N	3627	ENSP00000233242:K3627N	ENSP00000233242:K3627N	K	-	3	2	APOB	21082364	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	1.544000	0.36158	2.642000	0.89623	0.561000	0.74099	AAG		0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21228859	C	G	21228859	3	3	118	1	0	0	0	0	1	0	0	0	785	912	32	3	2826	3	APOB	2	21228859	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	1075246	21228859	221970514	7	6462											
DNMT3A	1788	genome.wustl.edu	37	2	25469527	25469527	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr2:25469527A>G	ENST00000264709.3	-	10	1578	c.1241T>C	c.(1240-1242)tTc>tCc	p.F414S	DNMT3A_ENST00000380746.4_Missense_Mutation_p.F225S|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F191S|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F414S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	414					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.F414S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGGCTGGAAGCCCCCCAG	0.632			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	ovary(1)	2											50	50	50					2																	25469527		2202	4296	6498	25323031	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1241T>C	2.37:g.25469527A>G	ENSP00000264709:p.Phe414Ser		25323031	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.729810	0.89390	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	4.87	4.87	0.63330	.	0.115333	0.64402	D	0.000007	D	0.83059	0.5172	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85330	0.1089	10	0.87932	D	0	-8.727	12.4658	0.55757	1.0:0.0:0.0:0.0	.	414;225	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	S	225;414;414;191	ENSP00000370122:F225S;ENSP00000324375:F414S;ENSP00000264709:F414S;ENSP00000384237:F191S	ENSP00000264709:F414S	F	-	2	0	DNMT3A	25323031	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	8.987000	0.93497	2.050000	0.60909	0.533000	0.62120	TTC		0.632	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		G	25469527	A	G	25469527	3	3	118	1	0	0	0	0	1	0	0	0	4676	246	9	4	1553	4	DNMT3A	2	25469527	Missense_Mutation	SNP	A	TCGA-13-0924-01A-01W-0421-09	4240668	25469527	217729846	8	6463											
FSHR	2492	genome.wustl.edu	37	2	49190064	49190064	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr2:49190064G>T	ENST00000406846.2	-	10	2015	c.1896C>A	c.(1894-1896)aaC>aaA	p.N632K	FSHR_ENST00000346173.3_Missense_Mutation_p.N570K|FSHR_ENST00000304421.4_Missense_Mutation_p.N606K|FSHR_ENST00000541117.1_Missense_Mutation_p.N368K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	632					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.N632K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CTCTGCGAAAGTTTTTGGTAA	0.463									Gonadal Dysgenesis, 46 XX																																							2	Substitution - Missense(2)	ovary(1)|lung(1)	2											80	82	81					2																	49190064		2203	4300	6503	49043568	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1896C>A	2.37:g.49190064G>T	ENSP00000384708:p.Asn632Lys		49043568	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521950	0.27211	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.35	-0.16	0.13375	.	0.373020	0.30584	N	0.009315	T	0.31358	0.0794	M	0.67953	2.075	0.34427	D	0.698132	B;B;B	0.32717	0.381;0.374;0.381	B;B;B	0.36244	0.11;0.22;0.11	T	0.22906	-1.0203	9	.	.	.	.	5.3237	0.15895	0.5896:0.0:0.2522:0.1581	.	606;570;632	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	K	632;570;606;368	ENSP00000384708:N632K;ENSP00000333908:N570K;ENSP00000306780:N606K;ENSP00000444172:N368K	.	N	-	3	2	FSHR	49043568	0.295000	0.24389	0.993000	0.49108	0.988000	0.76386	-0.335000	0.07873	0.051000	0.15978	0.655000	0.94253	AAC		0.463	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			T	49190064	G	T	49190064	3	4	118	1	0	0	0	0	1	0	0	0	6073	1020	36	3	195	3	FSHR	2	49190064	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09	23720537	49190064	194009309	9	6464											
DQX1	165545	genome.wustl.edu	37	2	74746785	74746785	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr2:74746785T>A	ENST00000404568.3	-	10	1923	c.1704A>T	c.(1702-1704)gaA>gaT	p.E568D	DQX1_ENST00000393951.2_Missense_Mutation_p.E568D	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	568						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.E450D(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GTTGCATGAGTTCTAGGAGTT	0.517																																																1	Substitution - Missense(1)	ovary(1)	2											141	137	138					2																	74746785		2203	4300	6503	74600293	SO:0001583	missense	165545			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1704A>T	2.37:g.74746785T>A	ENSP00000384621:p.Glu568Asp		74600293	Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	T	16.36	3.100597	0.56183	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.03035	4.07;4.07	5.6	3.21	0.36854	Domain of unknown function DUF1605 (1);	0.072484	0.52532	N	0.000064	T	0.01976	0.0062	N	0.13299	0.325	0.32262	N	0.570079	B	0.21821	0.061	B	0.20955	0.032	T	0.30416	-0.9979	10	0.25106	T	0.35	-15.8884	2.0047	0.03475	0.1638:0.0867:0.171:0.5786	.	568	Q8TE96	DQX1_HUMAN	D	568	ENSP00000377523:E568D;ENSP00000384621:E568D	ENSP00000377523:E568D	E	-	3	2	DQX1	74600293	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.203000	0.32284	0.917000	0.36895	0.482000	0.46254	GAA		0.517	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		A	74746785	T	A	74746785	3	1	118	1	0	0	0	0	1	0	0	0	4751	1722	60	5	461	5	DQX1	2	74746785	Missense_Mutation	SNP	T	TCGA-13-0924-01A-01W-0421-09	25556721	74746785	168452588	10	6465											
ZC3H6	376940	genome.wustl.edu	37	2	113074146	113074146	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr2:113074146G>A	ENST00000409871.1	+	6	1248	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	ZC3H6_ENST00000343936.4_Missense_Mutation_p.E283K	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	283							metal ion binding (GO:0046872)	p.E283K(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATACTTCCTGGAAGGGAGGTG	0.308																																																1	Substitution - Missense(1)	ovary(1)	2											46	43	44					2																	113074146		1803	4064	5867	112790617	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.847G>A	2.37:g.113074146G>A	ENSP00000386764:p.Glu283Lys		112790617	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577833	0.96565	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.39997	1.05;1.05	5.67	5.67	0.87782	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.20328	0.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53767	-0.8392	10	0.49607	T	0.09	-34.1355	20.1358	0.98028	0.0:0.0:1.0:0.0	.	283	P61129	ZC3H6_HUMAN	K	283;283;260	ENSP00000386764:E283K;ENSP00000340298:E283K	ENSP00000340298:E283K	E	+	1	0	ZC3H6	112790617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.374000	0.97172	2.833000	0.97629	0.585000	0.79938	GAA		0.308	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		A	113074146	G	A	113074146	3	1	118	1	0	0	0	0	1	0	0	0	17571	1175	41	2	869	2	ZC3H6	2	113074146	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09	38327361	113074146	130125227	11	6466											
CCDC148	130940	genome.wustl.edu	37	2	159170270	159170270	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr2:159170270A>T	ENST00000283233.5	-	8	1214	c.901T>A	c.(901-903)Ttg>Atg	p.L301M	CCDC148_ENST00000409187.1_Missense_Mutation_p.L310M|CCDC148_ENST00000536771.1_Missense_Mutation_p.L215M	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	301								p.L301M(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTACTCACCAAATCATGCCTA	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											99	100	99					2																	159170270		2203	4300	6503	158878516	SO:0001583	missense	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.901T>A	2.37:g.159170270A>T	ENSP00000283233:p.Leu301Met		158878516	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278053	0.59758	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.42131	1.39;1.39;0.98	5.25	4.2	0.49525	.	.	.	.	.	T	0.58206	0.2106	M	0.76002	2.32	0.37871	D	0.930072	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.61212	-0.7108	9	0.48119	T	0.1	-7.0146	5.1797	0.15154	0.7663:0.0:0.2337:0.0	.	215;149;149;310;301	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	M	301;149;310;215	ENSP00000283233:L301M;ENSP00000386674:L310M;ENSP00000443740:L215M	ENSP00000283233:L301M	L	-	1	2	CCDC148	158878516	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.872000	0.56085	0.817000	0.34445	0.460000	0.39030	TTG		0.353	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		T	159170270	A	T	159170270	3	4	118	1	0	0	0	0	1	0	0	0	2782	11	1	5	954	5	CCDC148	2	159170270	Missense_Mutation	SNP	A	TCGA-13-0924-01A-01W-0421-09	46096124	159170270	84029103	12	6467											
MYH15	22989	genome.wustl.edu	37	3	108129646	108129646	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr3:108129646C>T	ENST00000273353.3	-	32	4395	c.4339G>A	c.(4339-4341)Gtc>Atc	p.V1447I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1447						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V1447I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCAGAGCGGACCTTCCCGAGG	0.647																																																1	Substitution - Missense(1)	ovary(1)	3											37	38	38					3																	108129646		2040	4195	6235	109612336	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4339G>A	3.37:g.108129646C>T	ENSP00000273353:p.Val1447Ile		109612336		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430522	0.25726	.	.	ENSG00000144821	ENST00000273353	T	0.78246	-1.16	5.31	2.36	0.29203	Myosin tail (1);	.	.	.	.	T	0.68155	0.2970	N	0.22421	0.69	0.09310	N	0.999998	B	0.23442	0.085	B	0.35770	0.21	T	0.62784	-0.6781	9	0.87932	D	0	.	7.9173	0.29825	0.4034:0.5244:0.0:0.0723	.	1447	Q9Y2K3	MYH15_HUMAN	I	1447	ENSP00000273353:V1447I	ENSP00000273353:V1447I	V	-	1	0	MYH15	109612336	0.509000	0.26163	0.031000	0.17742	0.107000	0.19398	0.698000	0.25571	0.609000	0.30018	0.561000	0.74099	GTC		0.647	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		T	108129646	C	T	108129646	3	4	118	1	0	0	0	0	1	0	0	0	10034	507	18	2	1545	2	MYH15	3	108129646	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09		108129646	89892784	13	6468											
HPS3	84343	genome.wustl.edu	37	3	148877927	148877927	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr3:148877927C>T	ENST00000296051.2	+	11	2107	c.1967C>T	c.(1966-1968)cCt>cTt	p.P656L	HPS3_ENST00000460120.1_Missense_Mutation_p.P491L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	656					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.P656L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AATATTAATCCTTTAACTGCC	0.423									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	ovary(1)	3											145	146	146					3																	148877927		2203	4300	6503	150360617	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1967C>T	3.37:g.148877927C>T	ENSP00000296051:p.Pro656Leu		150360617	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507794	0.85282	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.68765	-0.35;-0.34	5.41	5.41	0.78517	.	0.049965	0.85682	D	0.000000	T	0.81148	0.4762	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82228	-0.0561	10	0.87932	D	0	-20.096	19.5526	0.95328	0.0:1.0:0.0:0.0	.	491;656	G5E9V4;Q969F9	.;HPS3_HUMAN	L	656;491	ENSP00000296051:P656L;ENSP00000418230:P491L	ENSP00000296051:P656L	P	+	2	0	HPS3	150360617	1.000000	0.71417	0.210000	0.23637	0.965000	0.64279	6.162000	0.71874	2.701000	0.92244	0.563000	0.77884	CCT		0.423	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		T	148877927	C	T	148877927	3	4	118	1	0	0	0	0	1	0	0	0	7340	681	24	2	2009	2	HPS3	3	148877927	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	40748281	148877927	49144503	14	6469											
GMPS	8833	genome.wustl.edu	37	3	155654195	155654195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr3:155654195C>T	ENST00000496455.2	+	15	2211	c.1876C>T	c.(1876-1878)Caa>Taa	p.Q626*	GMPS_ENST00000295920.7_Nonsense_Mutation_p.Q527*	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	626					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.Q626*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GGACCCACTTCAAAAGCAGCC	0.443			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	1	Substitution - Nonsense(1)	ovary(1)	3											127	118	121					3																	155654195		1866	4101	5967	157136889	SO:0001587	stop_gained	8833			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1876C>T	3.37:g.155654195C>T	ENSP00000419851:p.Gln626*		157136889	A8K639|B4DXV7|F8W720	Nonsense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	C	41	9.076957	0.99057	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-12.6304	19.4655	0.94935	0.0:1.0:0.0:0.0	.	.	.	.	X	626;527;575;626	.	ENSP00000295920:Q527X	Q	+	1	0	GMPS	157136889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.354000	0.79424	2.580000	0.87095	0.561000	0.74099	CAA		0.443	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			T	155654195	C	T	155654195	4	4	118	1	0	0	0	0	0	1	0	0	6498	827	29	2	1934	2	GMPS	3	155654195	Nonsense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	6776268	155654195	42368235	15	6470											
SMARCAD1	56916	genome.wustl.edu	37	4	95155254	95155254	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr4:95155254G>A	ENST00000354268.4	+	4	591	c.518G>A	c.(517-519)aGt>aAt	p.S173N	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S173N			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	173	CUE 1. {ECO:0000255|PROSITE- ProRule:PRU00468}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S173N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ccacaaagaagtgacaatgat	0.343																																																1	Substitution - Missense(1)	ovary(1)	4											39	36	37					4																	95155254		2203	4300	6503	95374277	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.518G>A	4.37:g.95155254G>A	ENSP00000346217:p.Ser173Asn		95374277	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464260	0.43736	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.17054	2.3;2.3;2.3	5.81	5.81	0.92471	Ubiquitin system component Cue (1);	0.689279	0.12737	N	0.443392	T	0.12390	0.0301	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.002;0.004	T	0.21075	-1.0256	10	0.24483	T	0.36	-2.0744	15.5785	0.76414	0.0:0.0:1.0:0.0	.	173;173	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	N	173	ENSP00000351947:S173N;ENSP00000415576:S173N;ENSP00000346217:S173N	ENSP00000346217:S173N	S	+	2	0	SMARCAD1	95374277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.612000	0.36889	2.736000	0.93811	0.655000	0.94253	AGT		0.343	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		A	95155254	G	A	95155254	3	1	118	1	0	0	0	0	1	0	0	0	14775	1029	36	2	528	2	SMARCAD1	4	95155254	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09		95155254	95999022	16	6471											
FASTKD3	79072	genome.wustl.edu	37	5	7867093	7867093	+	Silent	SNP	A	A	G			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr5:7867093A>G	ENST00000264669.5	-	2	1240	c.1104T>C	c.(1102-1104)ccT>ccC	p.P368P	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	368					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.P368P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGACAACTTCAGGATCCAACG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	5											72	71	72					5																	7867093		2203	4300	6503	7920093	SO:0001819	synonymous_variant	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1104T>C	5.37:g.7867093A>G			7920093	Q9BVD3	Silent	SNP	ENST00000264669.5	37	CCDS3873.1																																																																																				0.458	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		G	7867093	A	G	7867093	2	3	118	1	0	0	0	0	0	0	0	1	5687	175	7	4		4	FASTKD3	5	7867093	Silent	SNP	A	TCGA-13-0924-01A-01W-0421-09		7867093	173048167	17	6472											
UGT3A1	133688	genome.wustl.edu	37	5	35954511	35954511	+	Silent	SNP	C	C	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr5:35954511C>A	ENST00000274278.3	-	7	1722	c.1365G>T	c.(1363-1365)ctG>ctT	p.L455L	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	455						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.L455L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAGCCCACCAGCCGCTGTG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	5											54	46	49					5																	35954511		2203	4300	6503	35990268	SO:0001819	synonymous_variant	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1365G>T	5.37:g.35954511C>A			35990268	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	CCDS3913.1																																																																																				0.607	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		A	35954511	C	A	35954511	2	1	118	1	0	0	0	0	0	0	0	1	16963	581	21	3		3	UGT3A1	5	35954511	Silent	SNP	C	TCGA-13-0924-01A-01W-0421-09	28087418	35954511	144960749	18	6473											
NIPBL	25836	genome.wustl.edu	37	5	37020619	37020619	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr5:37020619A>G	ENST00000282516.8	+	26	5568	c.5069A>G	c.(5068-5070)aAa>aGa	p.K1690R	NIPBL_ENST00000448238.2_Missense_Mutation_p.K1690R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1690					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.K1690R(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAACAGAAAAAGCAATGAAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	5											88	84	85					5																	37020619		2203	4300	6503	37056376	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5069A>G	5.37:g.37020619A>G	ENSP00000282516:p.Lys1690Arg		37056376	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869518	0.51588	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93189	-3.18;-3.18	5.68	4.52	0.55395	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88973	0.6583	L	0.39692	1.235	0.50171	D	0.999857	B;B	0.24483	0.063;0.104	B;B	0.30782	0.056;0.12	T	0.81972	-0.0688	10	0.10902	T	0.67	.	11.64	0.51227	0.9305:0.0:0.0695:0.0	.	1690;1690	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	R	1690	ENSP00000282516:K1690R;ENSP00000406266:K1690R	ENSP00000282516:K1690R	K	+	2	0	NIPBL	37056376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.166000	0.77553	0.988000	0.38734	0.528000	0.53228	AAA		0.373	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	37020619	A	G	37020619	3	3	118	1	0	0	0	0	1	0	0	0	10428	14	1	4	5167	4	NIPBL	5	37020619	Missense_Mutation	SNP	A	TCGA-13-0924-01A-01W-0421-09	1066108	37020619	143894641	19	6474											
SPINK6	404203	genome.wustl.edu	37	5	147593481	147593481	+	Silent	SNP	T	T	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr5:147593481T>C	ENST00000325630.2	+	3	346	c.90T>C	c.(88-90)tgT>tgC	p.C30C		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	30	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.C30C(1)		endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTTGACTGTGGTGAGTTCC	0.458																																																1	Substitution - coding silent(1)	ovary(1)	5											136	109	118					5																	147593481		2203	4300	6503	147573674	SO:0001819	synonymous_variant	404203			AY358716	CCDS34268.1	5q32	2011-08-31	2005-08-17		ENSG00000178172	ENSG00000178172		"Serine peptidase inhibitors, Kazal type"	29486	protein-coding gene	gene with protein product	"protease inhibitor H"	615868	"serine protease inhibitor, Kazal type 6"			15060002	Standard	NM_205841		Approved	MGC21394, UNQ844, BUSI2	uc021yff.1	Q6UWN8	OTTHUMG00000163425	ENST00000325630.2:c.90T>C	5.37:g.147593481T>C			147573674	E0X656|Q8N5P0	Silent	SNP	ENST00000325630.2	37	CCDS34268.1																																																																																				0.458	SPINK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373332.1	NM_205841		C	147593481	T	C	147593481	2	2	118	1	0	0	0	0	0	0	0	1	15065	1702	59	4		4	SPINK6	5	147593481	Silent	SNP	T	TCGA-13-0924-01A-01W-0421-09	110572862	147593481	33321779	20	6475											
MOG	4340	genome.wustl.edu	37	6	29638162	29638162	+	Nonsense_Mutation	SNP	C	C	T	rs201832372		TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr6:29638162C>T	ENST00000376917.3	+	6	926	c.697C>T	c.(697-699)Cga>Tga	p.R233*	MOG_ENST00000396704.3_Intron|MOG_ENST00000416766.2_Nonsense_Mutation_p.R195*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000431798.2_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000483013.1_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000376898.3_Nonsense_Mutation_p.R233*|MOG_ENST00000396701.2_Intron|MOG_ENST00000376888.2_Nonsense_Mutation_p.R117*|MOG_ENST00000490427.1_Intron|MOG_ENST00000376894.4_Nonsense_Mutation_p.R233*	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	233					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R233*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTGGCTACATCGAAGACTAGC	0.522																																																2	Substitution - Nonsense(2)	ovary(1)|endometrium(1)	6											191	186	188					6																	29638162		2203	4300	6503	29746141	SO:0001587	stop_gained	4340				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.697C>T	6.37:g.29638162C>T	ENSP00000366115:p.Arg233*		29746141	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Nonsense_Mutation	SNP	ENST00000376917.3	37	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	36	5.753847	0.96890	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000416766;ENST00000376898	.	.	.	5.68	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4616	0.38787	0.162:0.6821:0.1558:0.0	.	.	.	.	X	233;117;233;195;233	.	ENSP00000366085:R117X	R	+	1	2	MOG	29746141	0.298000	0.24417	0.993000	0.49108	0.997000	0.91878	0.246000	0.18160	0.718000	0.32166	0.561000	0.74099	CGA		0.522	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		T	29638162	C	T	29638162	4	4	118	1	0	0	0	0	0	1	0	0	9693	876	31	1	855	1	MOG	6	29638162	Nonsense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09		29638162	141476905	21	6476											
PKHD1	5314	genome.wustl.edu	37	6	51909856	51909856	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr6:51909856G>C	ENST00000371117.3	-	25	2898	c.2623C>G	c.(2623-2625)Cct>Gct	p.P875A	PKHD1_ENST00000340994.4_Missense_Mutation_p.P875A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	875					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P875A(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTGCAGCAGGATTCACTCCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	6											97	87	91					6																	51909856		2203	4299	6502	52017815	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2623C>G	6.37:g.51909856G>C	ENSP00000360158:p.Pro875Ala		52017815	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.158	1.017919	0.19355	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86865	-1.98;-2.18	5.25	3.37	0.38596	.	0.159028	0.43919	N	0.000503	D	0.83843	0.5342	M	0.64260	1.97	0.09310	N	0.999991	D;D	0.89917	0.997;1.0	D;D	0.69654	0.942;0.965	T	0.76479	-0.2944	10	0.06099	T	0.92	.	13.5375	0.61653	0.0:0.2989:0.7011:0.0	.	875;875	P08F94-2;P08F94	.;PKHD1_HUMAN	A	875	ENSP00000360158:P875A;ENSP00000341097:P875A	ENSP00000341097:P875A	P	-	1	0	PKHD1	52017815	1.000000	0.71417	0.044000	0.18714	0.307000	0.27823	3.636000	0.54317	0.637000	0.30526	0.655000	0.94253	CCT		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51909856	G	C	51909856	3	2	118	1	0	0	0	0	1	0	0	0	11971	1174	41	3	9812	3	PKHD1	6	51909856	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09	22271694	51909856	119205211	22	6477											
HGF	3082	genome.wustl.edu	37	7	81336664	81336664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr7:81336664C>A	ENST00000222390.5	-	14	1784	c.1558G>T	c.(1558-1560)Gga>Tga	p.G520*	HGF_ENST00000457544.2_Nonsense_Mutation_p.G515*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	520	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.G520*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AATGATCCTCCGCAGATATGT	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	7											80	78	79					7																	81336664		2202	4300	6502	81174600	SO:0001587	stop_gained	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1558G>T	7.37:g.81336664C>A	ENSP00000222390:p.Gly520*		81174600	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	38	7.221044	0.98143	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.664	0.95886	0.0:1.0:0.0:0.0	.	.	.	.	X	520;515	.	ENSP00000222390:G520X	G	-	1	0	HGF	81174600	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	6.474000	0.73578	2.713000	0.92767	0.585000	0.79938	GGA		0.378	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		A	81336664	C	A	81336664	4	1	118	1	0	0	0	0	0	1	0	0	7085	661	23	3	648	3	HGF	7	81336664	Nonsense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09		81336664	77801999	23	6478											
CACNA2D1	781	genome.wustl.edu	37	7	81599244	81599244	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr7:81599244C>G	ENST00000356253.5	-	28	2552	c.2297G>C	c.(2296-2298)aGg>aCg	p.R766T	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R754T|CACNA2D1_ENST00000535308.1_Intron			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	766					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R754T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCTAGGCTCCTTTTATAGAA	0.343																																																1	Substitution - Missense(1)	ovary(1)	7											148	145	146					7																	81599244		2203	4299	6502	81437180	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2297G>C	7.37:g.81599244C>G	ENSP00000348589:p.Arg766Thr		81437180	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.982221|4.982221	0.93044|0.93044	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|T;T	.|0.77620	.|-1.11;-1.11	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88941|0.88941	0.6574|0.6574	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	D|D	0.89310|0.89310	0.3632|0.3632	5|10	.|0.87932	.|D	.|0	-17.555|-17.555	20.0896|20.0896	0.97814|0.97814	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|754	.|P54289-2	.|.	R|T	265|754;773;766	.|ENSP00000349320:R754T;ENSP00000348589:R766T	.|ENSP00000284088:R773T	G|R	-|-	1|2	0|0	CACNA2D1|CACNA2D1	81437180|81437180	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.374000|7.374000	0.79633|0.79633	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				G	81599244	C	G	81599244	3	3	118	1	0	0	0	0	1	0	0	0	2548	681	24	3	1062	3	CACNA2D1	7	81599244	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	262580	81599244	77539419	24	6479											
PMPCB	9512	genome.wustl.edu	37	7	102948151	102948151	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr7:102948151G>C	ENST00000249269.4	+	7	883	c.845G>C	c.(844-846)aGt>aCt	p.S282T	PMPCB_ENST00000420236.2_Missense_Mutation_p.S177T|PMPCB_ENST00000428154.1_Missense_Mutation_p.S282T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	282					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S282T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCACAGGAAGTGAGGTAGGG	0.398																																																1	Substitution - Missense(1)	ovary(1)	7											80	69	73					7																	102948151		2203	4300	6503	102735387	SO:0001583	missense	9512			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.845G>C	7.37:g.102948151G>C	ENSP00000249269:p.Ser282Thr		102735387	O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970670	0.92919	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.28454	1.61;1.61;1.61	5.92	5.92	0.95590	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	M	0.90198	3.095	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.976;0.999;0.999;0.999;0.999;0.999;0.997	D;D;D;D;D;D;D	0.73380	0.933;0.972;0.979;0.979;0.979;0.979;0.98	T	0.71474	-0.4582	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	177;177;282;282;273;282;282	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	T	282;282;177	ENSP00000249269:S282T;ENSP00000390035:S282T;ENSP00000410393:S177T	ENSP00000249269:S282T	S	+	2	0	PMPCB	102735387	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.301000	0.96167	2.809000	0.96659	0.655000	0.94253	AGT		0.398	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		C	102948151	G	C	102948151	3	2	118	1	0	0	0	0	1	0	0	0	12141	1029	36	3	871	3	PMPCB	7	102948151	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09	21348907	102948151	56190512	25	6480											
VCPIP1	80124	genome.wustl.edu	37	8	67577186	67577186	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr8:67577186C>A	ENST00000310421.4	-	1	2266	c.2008G>T	c.(2008-2010)Ggt>Tgt	p.G670C	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	670					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.G670C(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GCGTGAGCACCATCTATATTT	0.388																																					NSCLC(179;265 2915 6144 43644)											1	Substitution - Missense(1)	ovary(1)	8											159	167	164					8																	67577186		2203	4300	6503	67739740	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2008G>T	8.37:g.67577186C>A	ENSP00000309031:p.Gly670Cys		67739740	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744979	0.49151	.	.	ENSG00000175073	ENST00000310421	T	0.35421	1.31	5.25	5.25	0.73442	.	0.051121	0.85682	D	0.000000	T	0.52805	0.1757	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	T	0.54536	-0.8279	10	0.87932	D	0	-12.679	19.2059	0.93729	0.0:1.0:0.0:0.0	.	670	Q96JH7	VCIP1_HUMAN	C	670	ENSP00000309031:G670C	ENSP00000309031:G670C	G	-	1	0	VCPIP1	67739740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.887000	0.63156	2.587000	0.87381	0.655000	0.94253	GGT		0.388	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			A	67577186	C	A	67577186	3	1	118	1	0	0	0	0	1	0	0	0	17141	594	21	3	1672	3	VCPIP1	8	67577186	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09		67577186	78786836	26	6481											
CPA6	57094	genome.wustl.edu	37	8	68396077	68396077	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr8:68396077T>A	ENST00000297770.4	-	8	979	c.764A>T	c.(763-765)aAa>aTa	p.K255I	CPA6_ENST00000297769.4_Missense_Mutation_p.K107I|CPA6_ENST00000518549.1_Missense_Mutation_p.K255I	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	255						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K255I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TGACCTTGTTTTTCTCCAAAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	8											163	149	153					8																	68396077		2203	4300	6503	68558631	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.764A>T	8.37:g.68396077T>A	ENSP00000297770:p.Lys255Ile		68558631	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.810176	0.90707	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.42513	0.97;0.97;3.39	5.18	5.18	0.71444	Peptidase M14, carboxypeptidase A (2);	0.047013	0.85682	D	0.000000	T	0.75686	0.3883	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	D	0.84431	0.0577	10	0.87932	D	0	.	14.3144	0.66437	0.0:0.0:0.0:1.0	.	255;107;255	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	I	107;255;255	ENSP00000297769:K107I;ENSP00000297770:K255I;ENSP00000431112:K255I	ENSP00000297769:K107I	K	-	2	0	CPA6	68558631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.076000	0.62316	0.523000	0.50628	AAA		0.398	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		A	68396077	T	A	68396077	3	1	118	1	0	0	0	0	1	0	0	0	3794	1841	64	5	565	5	CPA6	8	68396077	Missense_Mutation	SNP	T	TCGA-13-0924-01A-01W-0421-09	818891	68396077	77967945	27	6482											
NCOA2	10499	genome.wustl.edu	37	8	71040732	71040732	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr8:71040732A>C	ENST00000452400.2	-	18	3798	c.3617T>G	c.(3616-3618)cTt>cGt	p.L1206R	NCOA2_ENST00000267974.4_Missense_Mutation_p.L294R	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1206					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.L1206R(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGATTCATAAGTGGCTGGCG	0.383			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	1	Substitution - Missense(1)	ovary(1)	8											67	68	67					8																	71040732		1966	4153	6119	71203286	SO:0001583	missense	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3617T>G	8.37:g.71040732A>C	ENSP00000399968:p.Leu1206Arg		71203286	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.328715|4.328715	0.81690|0.81690	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000452400;ENST00000267974|ENST00000518363	T;T|.	0.08807|.	4.58;3.05|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.213774|0.213774	0.47093|0.47093	D|D	0.000256|0.000256	T|T	0.71896|0.71896	0.3394|0.3394	L|L	0.61218|0.61218	1.895|1.895	0.42127|0.42127	D|D	0.991459|0.991459	D;P|.	0.55800|.	0.973;0.832|.	P;B|.	0.56823|.	0.807;0.333|.	T|T	0.73427|0.73427	-0.3986|-0.3986	10|7	0.45353|0.48119	T|T	0.12|0.1	.|.	15.5043|15.5043	0.75725|0.75725	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	294;1206|.	F8WAJ2;Q15596|.	.;NCOA2_HUMAN|.	R|V	1206;294|307	ENSP00000399968:L1206R;ENSP00000267974:L294R|.	ENSP00000267974:L294R|ENSP00000429132:L307V	L|L	-|-	2|1	0|2	NCOA2|NCOA2	71203286|71203286	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.994000|0.994000	0.84299|0.84299	8.665000|8.665000	0.91144|0.91144	2.056000|2.056000	0.61249|0.61249	0.533000|0.533000	0.62120|0.62120	CTT|TTA		0.383	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			C	71040732	A	C	71040732	3	2	118	1	0	0	0	0	1	0	0	0	10229	72	3	5	801	5	NCOA2	8	71040732	Missense_Mutation	SNP	A	TCGA-13-0924-01A-01W-0421-09	2644655	71040732	75323290	28	6483											
CSMD3	114788	genome.wustl.edu	37	8	113364664	113364664	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr8:113364664T>C	ENST00000297405.5	-	39	6480	c.6236A>G	c.(6235-6237)gAt>gGt	p.D2079G	CSMD3_ENST00000352409.3_Missense_Mutation_p.D2009G|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1975G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2039G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2079	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D2079G(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATCCTTGATCACACTGAAA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											96	88	90					8																	113364664		2203	4298	6501	113433840	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6236A>G	8.37:g.113364664T>C	ENSP00000297405:p.Asp2079Gly		113433840	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.200021	0.79015	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.96	4.96	0.65561	Complement control module (2);Sushi/SCR/CCP (3);	0.221239	0.36338	N	0.002641	T	0.78253	0.4254	M	0.79693	2.465	0.54753	D	0.999987	P;B;D	0.53619	0.516;0.026;0.961	B;B;P	0.55345	0.281;0.063;0.774	T	0.81081	-0.1094	10	0.52906	T	0.07	.	15.0773	0.72087	0.0:0.0:0.0:1.0	.	1975;2079;2039	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	2039;2079;1349;1975;2009	ENSP00000345799:D2039G;ENSP00000297405:D2079G;ENSP00000341558:D1349G;ENSP00000412263:D1975G;ENSP00000343124:D2009G	ENSP00000297405:D2079G	D	-	2	0	CSMD3	113433840	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.977000	0.63792	2.205000	0.71048	0.533000	0.62120	GAT		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113364664	T	C	113364664	3	2	118	1	0	0	0	0	1	0	0	0	3946	1435	50	4	5019	4	CSMD3	8	113364664	Missense_Mutation	SNP	T	TCGA-13-0924-01A-01W-0421-09	42323932	113364664	32999358	29	6484											
GSDMC	56169	genome.wustl.edu	37	8	130760777	130760777	+	Silent	SNP	G	G	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr8:130760777G>C	ENST00000276708.4	-	14	2378	c.1497C>G	c.(1495-1497)ctC>ctG	p.L499L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	499						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.L499L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GCAGCAACGAGAGAGTCCCAT	0.587																																																1	Substitution - coding silent(1)	ovary(1)	8											129	122	124					8																	130760777		2203	4300	6503	130829959	SO:0001819	synonymous_variant	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1497C>G	8.37:g.130760777G>C			130829959	Q5XKF3|Q6P494	Silent	SNP	ENST00000276708.4	37	CCDS6360.1																																																																																				0.587	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			C	130760777	G	C	130760777	2	2	118	1	0	0	0	0	0	0	0	1	6818	929	33	3		3	GSDMC	8	130760777	Silent	SNP	G	TCGA-13-0924-01A-01W-0421-09	17396113	130760777	15603245	30	6485											
KHDRBS3	10656	genome.wustl.edu	37	8	136619243	136619243	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr8:136619243G>A	ENST00000355849.5	+	7	1263	c.853G>A	c.(853-855)Gat>Aat	p.D285N	KHDRBS3_ENST00000520981.1_Missense_Mutation_p.D58N	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	285	Tyr-rich.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D285N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACAGAGTTATGATTCCTATGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	8											216	201	206					8																	136619243		2203	4300	6503	136688425	SO:0001583	missense	10656			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.853G>A	8.37:g.136619243G>A	ENSP00000348108:p.Asp285Asn		136688425	Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116063	0.77323	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000520981	T;T	0.46819	0.91;0.86	6.01	6.01	0.97437	.	0.148297	0.64402	D	0.000014	T	0.49795	0.1578	L	0.54323	1.7	0.58432	D	0.999999	B	0.34290	0.447	B	0.35510	0.204	T	0.50725	-0.8794	10	0.72032	D	0.01	-25.5559	19.5093	0.95135	0.0:0.0:1.0:0.0	.	285	O75525	KHDR3_HUMAN	N	285;257;58	ENSP00000348108:D285N;ENSP00000428607:D58N	ENSP00000348108:D285N	D	+	1	0	KHDRBS3	136688425	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.016000	0.88706	2.861000	0.98227	0.650000	0.86243	GAT		0.383	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			A	136619243	G	A	136619243	3	1	118	1	0	0	0	0	1	0	0	0	8148	1290	45	2	879	2	KHDRBS3	8	136619243	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09	5858466	136619243	9744779	31	6486											
DCLRE1C	64421	genome.wustl.edu	37	10	14976407	14976407	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr10:14976407G>T	ENST00000378278.2	-	8	687	c.650C>A	c.(649-651)aCc>aAc	p.T217N	DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T97N|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T102N|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T97N|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T217N|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T102N|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T102N|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T97N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T97N|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T97N			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	217					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.T102N(1)|p.T217N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ACTAAGGTTGGTGAACAGATA	0.423								Non-homologous end-joining																																								2	Substitution - Missense(2)	ovary(2)	10											118	136	130					10																	14976407		2203	4300	6503	15016413	SO:0001583	missense	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.650C>A	10.37:g.14976407G>T	ENSP00000367527:p.Thr217Asn		15016413	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724763	0.68959	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843	T;T;T;T;T;T;T;T;T;T;T	0.79653	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-1.29	5.36	5.36	0.76844	.	0.045033	0.85682	D	0.000000	D	0.84857	0.5565	L	0.44542	1.39	0.50313	D	0.999866	P;D;D	0.89917	0.593;1.0;0.978	B;D;P	0.72625	0.395;0.978;0.733	D	0.84896	0.0839	10	0.51188	T	0.08	.	12.8674	0.57948	0.0853:0.0:0.9147:0.0	.	217;102;217	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	N	217;97;102;102;102;97;97;97;217;97;71	ENSP00000367538:T217N;ENSP00000400529:T97N;ENSP00000367492:T102N;ENSP00000350349:T102N;ENSP00000367496:T102N;ENSP00000380030:T97N;ENSP00000367503:T97N;ENSP00000367502:T97N;ENSP00000367527:T217N;ENSP00000367506:T97N;ENSP00000391428:T71N	ENSP00000350349:T102N	T	-	2	0	DCLRE1C	15016413	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.365000	0.73090	2.510000	0.84645	0.650000	0.86243	ACC		0.423	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		T	14976407	G	T	14976407	3	4	118	1	0	0	0	0	1	0	0	0	4296	1261	44	3	1456	3	DCLRE1C	10	14976407	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09		14976407	120558340	32	6487											
SVIL	6840	genome.wustl.edu	37	10	29777600	29777600	+	Silent	SNP	G	G	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr10:29777600G>C	ENST00000355867.4	-	23	5030	c.4278C>G	c.(4276-4278)gtC>gtG	p.V1426V	SVIL_ENST00000538146.1_Silent_p.V218V|SVIL_ENST00000375398.2_Silent_p.V1426V|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Silent_p.V340V|SVIL_ENST00000375400.3_Silent_p.V1000V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1426	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.V1426V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTCAGGTTGACGCTCCGCA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	10											73	58	63					10																	29777600		2203	4298	6501	29817606	SO:0001819	synonymous_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4278C>G	10.37:g.29777600G>C			29817606	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																				0.522	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			C	29777600	G	C	29777600	2	2	118	1	0	0	0	0	0	0	0	1	15421	1277	45	3		3	SVIL	10	29777600	Silent	SNP	G	TCGA-13-0924-01A-01W-0421-09	14801193	29777600	105757147	33	6488											
GDF2	2658	genome.wustl.edu	37	10	48416469	48416469	+	Silent	SNP	G	G	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr10:48416469G>C	ENST00000249598.1	-	1	384	c.225C>G	c.(223-225)gtC>gtG	p.V75V		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	75					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V75V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCTGCGAAGGGACCCCACTCA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	10											87	78	81					10																	48416469		2203	4300	6503	48036475	SO:0001819	synonymous_variant	2658			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.225C>G	10.37:g.48416469G>C			48036475	Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	CCDS7219.1																																																																																				0.562	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		C	48416469	G	C	48416469	2	2	118	1	0	0	0	0	0	0	0	1	6314	1161	41	3		3	GDF2	10	48416469	Silent	SNP	G	TCGA-13-0924-01A-01W-0421-09	18638869	48416469	87118278	34	6489											
SLIT1	6585	genome.wustl.edu	37	10	98773808	98773808	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr10:98773808T>A	ENST00000266058.4	-	29	3322	c.3077A>T	c.(3076-3078)aAc>aTc	p.N1026I	SLIT1_ENST00000371070.4_Missense_Mutation_p.N1026I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1026	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.N1026I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCAGGTGTAGTTGCCCACACC	0.607																																																1	Substitution - Missense(1)	ovary(1)	10											82	60	67					10																	98773808		2203	4300	6503	98763798	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3077A>T	10.37:g.98773808T>A	ENSP00000266058:p.Asn1026Ile		98763798	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.110605	0.56398	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.87966	-2.32;-2.32	4.1	1.74	0.24563	Follistatin-like, N-terminal (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.043759	0.85682	D	0.000000	D	0.91290	0.7254	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.89203	0.3559	10	0.87932	D	0	.	8.149	0.31130	0.0:0.1692:0.0:0.8308	.	1026	O75093	SLIT1_HUMAN	I	1026	ENSP00000266058:N1026I;ENSP00000360109:N1026I	ENSP00000266058:N1026I	N	-	2	0	SLIT1	98763798	1.000000	0.71417	0.999000	0.59377	0.591000	0.36615	1.967000	0.40491	0.164000	0.19529	-0.263000	0.10527	AAC		0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		A	98773808	T	A	98773808	3	1	118	1	0	0	0	0	1	0	0	0	14742	1725	60	5	1563	5	SLIT1	10	98773808	Missense_Mutation	SNP	T	TCGA-13-0924-01A-01W-0421-09	50357339	98773808	36760939	35	6490											
ADAM12	8038	genome.wustl.edu	37	10	128019058	128019058	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr10:128019058C>T	ENST00000368679.4	-	2	418	c.109G>A	c.(109-111)Gga>Aga	p.G37R	ADAM12_ENST00000368676.4_Missense_Mutation_p.G37R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	37					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G37R(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCAGCTCTTCCTTGGTTCCAT	0.463																																																1	Substitution - Missense(1)	ovary(1)	10											127	128	127					10																	128019058		2203	4300	6503	128009048	SO:0001583	missense	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.109G>A	10.37:g.128019058C>T	ENSP00000357668:p.Gly37Arg		128009048	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077196	0.20227	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.22539	4.73;1.95;3.71	4.93	-3.74	0.04385	.	1.543120	0.04481	N	0.377811	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0	B;B;B;B;B	0.10450	0.005;0.003;0.003;0.003;0.001	T	0.31613	-0.9937	10	0.13470	T	0.59	.	5.8931	0.18925	0.1406:0.2915:0.0:0.568	.	37;37;37;37;37	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	R	37	ENSP00000357668:G37R;ENSP00000357665:G37R;ENSP00000391268:G37R	ENSP00000357665:G37R	G	-	1	0	ADAM12	128009048	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.588000	0.05774	-0.465000	0.06953	-0.136000	0.14681	GGA		0.463	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			T	128019058	C	T	128019058	3	4	118	1	0	0	0	0	1	0	0	0	236	690	24	2	2816	2	ADAM12	10	128019058	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	29245250	128019058	7515689	36	6491											
C10orf90	118611	genome.wustl.edu	37	10	128114628	128114629	+	Nonsense_Mutation	DNP	TC	TC	AA	rs374088681		TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	TC	TC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr10:128114628_128114629TC>AA	ENST00000284694.7	-	8	2112_2113	c.1992_1993GA>TT	c.(1990-1995)aaGAaa>aaTTaa	p.664_665KK>N*	C10orf90_ENST00000480379.1_Nonsense_Mutation_p.68_69KK>N*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.567_568KK>N*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.617_618KK>N*|C10orf90_ENST00000544758.1_Nonsense_Mutation_p.761_762KK>N*	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	664	ALMS motif. {ECO:0000250}.|Poly-Lys.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K664_K665>N*(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTTCTTTTTTCTTTTTAACTT	0.45																																																1	Complex - compound substitution(1)	ovary(1)	10																																								128104619	SO:0001587	stop_gained	118611			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1992_1993delinsAA	10.37:g.128114628_128114629delinsAA	ENSP00000284694:p.K664_K665delinsN*		128104618	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Nonsense_Mutation	DNP	ENST00000284694.7	37	CCDS31310.1																																																																																				0.45	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		AA	128114629	TC	AA	128114628	4	1	118	1	0	0	0	0	0	1	0	0	1623	1792	62	5	114	5	C10orf90	10	128114628	Nonsense_Mutation	DNP	TC	TCGA-13-0924-01A-01W-0421-09	95570	128114628	7420119	37	6492											
AHNAK	79026	genome.wustl.edu	37	11	62293783	62293783	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr11:62293783G>C	ENST00000378024.4	-	5	8380	c.8106C>G	c.(8104-8106)atC>atG	p.I2702M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2702					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.I2702M(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGGCTTTGATATTCATCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											192	190	190					11																	62293783		2202	4299	6501	62050359	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8106C>G	11.37:g.62293783G>C	ENSP00000367263:p.Ile2702Met		62050359	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	11.90	1.777234	0.31411	.	.	ENSG00000124942	ENST00000378024	T	0.11604	2.76	4.65	1.66	0.24008	.	.	.	.	.	T	0.14270	0.0345	M	0.78223	2.4	0.25480	N	0.987743	P	0.51351	0.944	B	0.43251	0.413	T	0.15009	-1.0452	9	0.45353	T	0.12	-1.5199	5.2691	0.15615	0.1762:0.0:0.6613:0.1625	.	2702	Q09666	AHNK_HUMAN	M	2702	ENSP00000367263:I2702M	ENSP00000367263:I2702M	I	-	3	3	AHNAK	62050359	0.000000	0.05858	0.130000	0.21974	0.779000	0.44077	-0.734000	0.04893	0.372000	0.24591	0.479000	0.44913	ATC		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62293783	G	C	62293783	3	2	118	1	0	0	0	0	1	0	0	0	414	1280	45	3	9686	3	AHNAK	11	62293783	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09		62293783	72712733	38	6493											
CCDC88B	283234	genome.wustl.edu	37	11	64121190	64121190	+	Missense_Mutation	SNP	C	C	G	rs80109197	byFrequency	TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr11:64121190C>G	ENST00000356786.5	+	23	3881	c.3837C>G	c.(3835-3837)gaC>gaG	p.D1279E	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.D431E|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1279						membrane (GO:0016020)		p.D1279E(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGCCAGGGACCAGCTTAATG	0.647													C|||	29	0.00579073	0.0053	0	5008	,	,		18811	0.0169		0	False		,,,				2504	0.0051															1	Substitution - Missense(1)	ovary(1)	11						C	GLU/ASP	6,4396	11.4+/-27.6	0,6,2195	125	120	122		3837	0.1	1	11	dbSNP_131	122	2,8592	2.2+/-6.3	0,2,4295	yes	missense	CCDC88B	NM_032251.5	45	0,8,6490	GG,GC,CC		0.0233,0.1363,0.0616	benign	1279/1477	64121190	8,12988	2201	4297	6498	63877766	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3837C>G	11.37:g.64121190C>G	ENSP00000349238:p.Asp1279Glu		63877766	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	22	0.010073260073260074	7	0.014227642276422764	0	0.0	15	0.026223776223776224	0	0.0	c	8.571	0.880129	0.17467	0.001363	2.33E-4	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.64991	-0.13;-0.13	3.11	0.051	0.14296	.	.	.	.	.	T	0.24967	0.0606	L	0.50333	1.59	0.80722	D	1	P;B;P;P	0.45044	0.849;0.041;0.565;0.849	B;B;B;B	0.39299	0.296;0.009;0.107;0.296	T	0.17745	-1.0359	9	0.66056	D	0.02	.	4.6984	0.12815	0.1741:0.5999:0.0:0.226	.	1279;1161;415;1279	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	E	1161;1279;431	ENSP00000349238:D1279E;ENSP00000352974:D431E	ENSP00000349238:D1279E	D	+	3	2	CCDC88B	63877766	0.920000	0.31207	0.961000	0.40146	0.633000	0.38033	0.139000	0.16036	-0.419000	0.07439	-2.048000	0.00412	GAC		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		G	64121190	C	G	64121190	3	3	118	1	0	0	0	0	1	0	0	0	2864	506	18	3	3927	3	CCDC88B	11	64121190	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	1827407	64121190	70885326	39	6494											
RBM14	10432	genome.wustl.edu	37	11	66391688	66391688	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr11:66391688A>G	ENST00000310137.4	+	2	480	c.341A>G	c.(340-342)tAc>tGc	p.Y114C	RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000443702.1_3'UTR|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Missense_Mutation_p.Y114C|RBM14_ENST00000461478.1_3'UTR|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409372.1_Missense_Mutation_p.T137A|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	114	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.Y114C(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TTATCAGACTACGCGTTTGTT	0.542																																																1	Substitution - Missense(1)	ovary(1)	11											62	57	59					11																	66391688		2200	4295	6495	66148264	SO:0001583	missense	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.341A>G	11.37:g.66391688A>G	ENSP00000311747:p.Tyr114Cys		66148264	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	CCDS8147.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.41|16.41	3.115148|3.115148	0.56505|0.56505	.|.	.|.	ENSG00000239306|ENSG00000239306	ENST00000409372|ENST00000310137;ENST00000393979	T|T;T	0.13196|0.76839	2.61|-1.05;-1.05	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.075543	.|0.56097	.|D	.|0.000036	D|D	0.82806|0.82806	0.5117|0.5117	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;P	.|0.69078	.|0.997;0.563	.|D;P	.|0.63192	.|0.912;0.51	D|D	0.84655|0.84655	0.0703|0.0703	7|10	0.62326|0.87932	D|D	0.03|0	-3.1805|-3.1805	13.6901|13.6901	0.62539|0.62539	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|114;114	.|Q96PK6-2;Q96PK6	.|.;RBM14_HUMAN	A|C	137|114	ENSP00000386518:T137A|ENSP00000311747:Y114C;ENSP00000377548:Y114C	ENSP00000386518:T137A|ENSP00000311747:Y114C	T|Y	+|+	1|2	0|0	RBM14|RBM14	66148264|66148264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.245000|6.245000	0.72398|0.72398	2.129000|2.129000	0.65627|0.65627	0.533000|0.533000	0.62120|0.62120	ACG|TAC		0.542	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		G	66391688	A	G	66391688	3	3	118	1	0	0	0	0	1	0	0	0	13118	391	14	4	347	4	RBM14	11	66391688	Missense_Mutation	SNP	A	TCGA-13-0924-01A-01W-0421-09	2270498	66391688	68614828	40	6495											
RBM14	10432	genome.wustl.edu	37	11	66393953	66393953	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr11:66393953A>C	ENST00000310137.4	+	3	1963	c.1824A>C	c.(1822-1824)ttA>ttC	p.L608F	RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Nonstop_Mutation_p.*120S|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Nonstop_Mutation_p.*157S|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	608					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.L608F(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCGGCGTTTAGCCGAGCTCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	11											72	67	69					11																	66393953		2200	4295	6495	66150529	SO:0001583	missense	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1824A>C	11.37:g.66393953A>C	ENSP00000311747:p.Leu608Phe		66150529	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	CCDS8147.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.972891|3.972891	0.74246|0.74246	.|.	.|.	ENSG00000239306|ENSG00000239306	ENST00000310137|ENST00000393979;ENST00000409738	D|.	0.84660|.	-1.88|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.074202|.	0.52532|.	D|.	0.000069|.	T|.	0.60353|.	0.2262|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.24576|.	0.106|.	B|.	0.23574|.	0.047|.	T|.	0.59857|.	-0.7375|.	9|.	0.87932|.	D|.	0|.	-3.0953|-3.0953	9.0573|9.0573	0.36414|0.36414	0.8361:0.0:0.0:0.1639|0.8361:0.0:0.0:0.1639	.|.	608|.	Q96PK6|.	RBM14_HUMAN|.	F|S	608|157;120	ENSP00000311747:L608F|.	ENSP00000311747:L608F|.	L|X	+|+	3|2	2|0	RBM14|RBM14	66150529|66150529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.255000|2.255000	0.43222|0.43222	2.120000|2.120000	0.65058|0.65058	0.455000|0.455000	0.32223|0.32223	TTA|TAG		0.572	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		C	66393953	A	C	66393953	3	2	118	1	0	0	0	0	1	0	0	0	13118	417	15	5	1834	5	RBM14	11	66393953	Missense_Mutation	SNP	A	TCGA-13-0924-01A-01W-0421-09	2265	66393953	68612563	41	6496											
TMEM126A	84233	genome.wustl.edu	37	11	85365199	85365199	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr11:85365199T>C	ENST00000304511.2	+	3	288	c.179T>C	c.(178-180)gTg>gCg	p.V60A	TMEM126A_ENST00000528105.1_5'UTR|TMEM126A_ENST00000532180.1_5'UTR	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	60					optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.V60A(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATCTTGAATGTGACAAAGGCT	0.398																																																1	Substitution - Missense(1)	ovary(1)	11											173	165	167					11																	85365199		2203	4299	6502	85042847	SO:0001583	missense	84233				CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.179T>C	11.37:g.85365199T>C	ENSP00000306887:p.Val60Ala		85042847	B2R570|E9PI16	Missense_Mutation	SNP	ENST00000304511.2	37	CCDS8268.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.033099	0.35893	.	.	ENSG00000171202	ENST00000304511	T	0.49139	0.79	5.78	5.78	0.91487	.	0.108699	0.64402	D	0.000008	T	0.64994	0.2649	M	0.62088	1.915	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.64149	-0.6475	9	.	.	.	-6.5171	15.5785	0.76414	0.0:0.0:0.0:1.0	.	60	Q9H061	T126A_HUMAN	A	60	ENSP00000306887:V60A	.	V	+	2	0	TMEM126A	85042847	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	6.036000	0.70948	2.333000	0.79357	0.533000	0.62120	GTG		0.398	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392177.1	NM_032273		C	85365199	T	C	85365199	3	2	118	1	0	0	0	0	1	0	0	0	16038	1696	59	4	185	4	TMEM126A	11	85365199	Missense_Mutation	SNP	T	TCGA-13-0924-01A-01W-0421-09	18971246	85365199	49641317	42	6497											
CASP5	838	genome.wustl.edu	37	11	104872905	104872905	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr11:104872905C>G	ENST00000260315.3	-	5	566	c.567G>C	c.(565-567)gaG>gaC	p.E189D	CASP5_ENST00000393139.2_Missense_Mutation_p.G120R|CASP5_ENST00000418434.1_Missense_Mutation_p.E47D|CASP5_ENST00000393141.2_Missense_Mutation_p.E202D|CASP5_ENST00000526056.1_Missense_Mutation_p.E202D|CASP5_ENST00000444749.2_Missense_Mutation_p.E131D|CASP5_ENST00000531367.1_Missense_Mutation_p.E47D			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	189					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.E173D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTCTGCGGTCCTCTCTCTTTT	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											107	101	103					11																	104872905		2202	4299	6501	104378115	SO:0001583	missense	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.567G>C	11.37:g.104872905C>G	ENSP00000260315:p.Glu189Asp		104378115	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	CCDS8328.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	2.334|2.334	-0.352745|-0.352745	0.05173|0.05173	.|.	.|.	ENSG00000137757|ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367|ENST00000393139	T;T;T;T;T;T|T	0.02236|0.41065	4.67;4.38;4.68;4.55;4.67;4.38|1.01	4.2|4.2	-2.0|-2.0	0.07433|0.07433	Peptidase C14, caspase precursor p45, core (1);|.	1.096640|.	0.06786|.	N|.	0.786132|.	T|T	0.36082|0.36082	0.0954|0.0954	L|L	0.55990|0.55990	1.75|1.75	0.09310|0.09310	N|N	1|1	B;P;B;B|.	0.36048|.	0.382;0.534;0.295;0.22|.	B;B;B;B|.	0.38755|.	0.211;0.281;0.165;0.157|.	T|T	0.44513|0.44513	-0.9323|-0.9323	10|7	0.23302|0.66056	T|D	0.38|0.02	.|.	0.7243|0.7243	0.00946|0.00946	0.2047:0.23:0.1411:0.4242|0.2047:0.23:0.1411:0.4242	.|.	47;131;189;202|.	P51878-3;P51878-2;P51878;P51878-5|.	.;.;CASP5_HUMAN;.|.	D|R	202;47;189;131;202;47|120	ENSP00000376849:E202D;ENSP00000398130:E47D;ENSP00000260315:E189D;ENSP00000388365:E131D;ENSP00000436877:E202D;ENSP00000434471:E47D|ENSP00000376847:G120R	ENSP00000260315:E189D|ENSP00000376847:G120R	E|G	-|-	3|1	2|0	CASP5|CASP5	104378115|104378115	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.015000|0.015000	0.08874|0.08874	-3.453000|-3.453000	0.00465|0.00465	-0.016000|-0.016000	0.14127|0.14127	-0.474000|-0.474000	0.04947|0.04947	GAG|GGA		0.463	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		G	104872905	C	G	104872905	3	3	118	1	0	0	0	0	1	0	0	0	2674	680	24	3	757	3	CASP5	11	104872905	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	19507706	104872905	30133611	43	6498											
SC5DL	6309	genome.wustl.edu	37	11	121177111	121177111	+	Silent	SNP	C	C	T	rs369858836		TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr11:121177111C>T	ENST00000392789.2	+	4	597	c.360C>T	c.(358-360)gtC>gtT	p.V120V	SC5D_ENST00000534230.1_Silent_p.V120V|SC5D_ENST00000528991.1_Intron|SC5D_ENST00000264027.4_Silent_p.V120V	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	120					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.V120V(1)									TTGAACTTGTCGTTAGTATAA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	11						C	,	0,4406		0,0,2203	186	170	175		360,360	-10.3	0	11		175	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	SC5DL	NM_001024956.2,NM_006918.4	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	120/300,120/300	121177111	1,13001	2203	4298	6501	120682321	SO:0001819	synonymous_variant	6309				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"Fatty acid hydroxylase domain containing"	10547	protein-coding gene	gene with protein product	"lathosterol oxidase"	602286	"sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.360C>T	11.37:g.121177111C>T			120682321	O00119|Q6GTM5|Q9UK15	Silent	SNP	ENST00000392789.2	37	CCDS8435.1																																																																																				0.378	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		T	121177111	C	T	121177111	2	4	118	1	0	0	0	0	0	0	0	1	13869	871	31	1		1	SC5DL	11	121177111	Silent	SNP	C	TCGA-13-0924-01A-01W-0421-09	16304206	121177111	13829405	44	6499											
KRT71	112802	genome.wustl.edu	37	12	52942483	52942496	+	Splice_Site	DEL	ACGGCTTCAAAGAG	ACGGCTTCAAAGAG	-			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	ACGGCTTCAAAGAG	ACGGCTTCAAAGAG	ACGGCTTCAAAGAG	-	ACGGCTTCAAAGAG	ACGGCTTCAAAGAG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr12:52942483_52942496delACGGCTTCAAAGAG	ENST00000267119.5	-	4	871_883	c.802_814delCTCTTTGAAGCCGT	c.(802-816)ctctttgaagccgta>ta	p.LFEAV268fs		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	268	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		AGACAGACTTACGGCTTCAAAGAGACACCTGAAG	0.542																																																1	Unknown(1)	ovary(1)	12																																								51228763	SO:0001630	splice_region_variant	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.813+1CTCTTTGAAGCCGT>-	12.37:g.52942483_52942496delACGGCTTCAAAGAG			51228750	B3KVC1|Q3SY85|Q96DU2	Splice_Site	DEL	ENST00000267119.5	37	CCDS8831.1																																																																																				0.542	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448	Frame_Shift_Del	-	52942496	ACGGCTTCAAAGAG	-	52942483	8	5	118	1	0	1	0	1	0	0	1	0	8484	405	14	0	780	0	KRT71	12	52942483	Splice_Site	DEL	ACGGCTTCAAAGAG	TCGA-13-0924-01A-01W-0421-09		52942483	80909412	45	6500											
PAH	5053	genome.wustl.edu	37	12	103288569	103288576	+	Frame_Shift_Del	DEL	CTCAAGAT	CTCAAGAT	-	rs62517167|rs142516271|rs199475570	byFrequency	TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	CTCAAGAT	CTCAAGAT	CTCAAGAT	-	CTCAAGAT	CTCAAGAT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr12:103288569_103288576delCTCAAGAT	ENST00000553106.1	-	3	761_768	c.289_296delATCTTGAG	c.(289-297)atcttgaggfs	p.ILR97fs	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Frame_Shift_Del_p.ILR92fs	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	97	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.I97fs*2(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AATGTCATGCCTCAAGATCTTGATGATG	0.399																																																1	Deletion - Frameshift(1)	ovary(1)	12	GRCh37	CM077217|CM930537	PAH	M	rs142516271|rs62517167																																			101812706	SO:0001589	frameshift_variant	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.289_296delATCTTGAG	12.37:g.103288569_103288576delCTCAAGAT	ENSP00000448059:p.Ile97fs		101812699	Q16717|Q8TC14	Frame_Shift_Del	DEL	ENST00000553106.1	37	CCDS9092.1																																																																																				0.399	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			-	103288576	CTCAAGAT	-	103288569	7	5	118	1	0	1	0	1	0	0	0	0	11394	681	24	0	1106	0	PAH	12	103288569	Frame_Shift_Del	DEL	CTCAAGAT	TCGA-13-0924-01A-01W-0421-09	50346086	103288569	30563326	46	6501											
NBEA	26960	genome.wustl.edu	37	13	36124684	36124684	+	Missense_Mutation	SNP	G	G	C	rs200705969		TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr13:36124684G>C	ENST00000400445.3	+	42	7190	c.6656G>C	c.(6655-6657)cGt>cCt	p.R2219P	NBEA_ENST00000379939.2_Missense_Mutation_p.R2216P|NBEA_ENST00000537702.1_Missense_Mutation_p.R12P|NBEA_ENST00000310336.4_Missense_Mutation_p.R2219P|NBEA_ENST00000540320.1_Missense_Mutation_p.R2219P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2219					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R2219P(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTCAAGACGTTACCTTCTA	0.358																																																1	Substitution - Missense(1)	ovary(1)	13											95	90	92					13																	36124684		1845	4100	5945	35022684	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6656G>C	13.37:g.36124684G>C	ENSP00000383295:p.Arg2219Pro		35022684	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210189	0.95069	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.61742	0.09;0.1;0.1;0.09;0.08	5.69	5.69	0.88448	PH-BEACH domain (1);	0.045710	0.85682	D	0.000000	T	0.81735	0.4885	M	0.90759	3.145	0.80722	D	1	P;D	0.89917	0.775;1.0	P;D	0.80764	0.73;0.994	D	0.84909	0.0847	10	0.87932	D	0	.	19.8262	0.96618	0.0:0.0:1.0:0.0	.	2219;2216	Q8NFP9;Q5T321	NBEA_HUMAN;.	P	2219;2219;2216;2219;846;12;12	ENSP00000440951:R2219P;ENSP00000383295:R2219P;ENSP00000369271:R2216P;ENSP00000308534:R2219P;ENSP00000440233:R12P	ENSP00000308534:R2219P	R	+	2	0	NBEA	35022684	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.558000	0.73942	2.676000	0.91093	0.655000	0.94253	CGT		0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		C	36124684	G	C	36124684	3	2	118	1	0	0	0	0	1	0	0	0	10187	1145	40	3	6822	3	NBEA	13	36124684	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09		36124684	79045194	47	6502											
OR4K2	390431	genome.wustl.edu	37	14	20345353	20345353	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr14:20345353T>A	ENST00000298642.2	+	1	963	c.927T>A	c.(925-927)aaT>aaA	p.N309K		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N309K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAAATTTTAATAAGGCAATGC	0.353																																																1	Substitution - Missense(1)	ovary(1)	14											45	48	47					14																	20345353		2202	4299	6501	19415193	SO:0001583	missense	390431				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.927T>A	14.37:g.20345353T>A	ENSP00000298642:p.Asn309Lys		19415193	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.264434	0.00262	.	.	ENSG00000165762	ENST00000298642	T	0.05786	3.39	5.25	1.78	0.24846	.	0.992252	0.08181	N	0.985470	T	0.03651	0.0104	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.48875	-0.8996	10	0.20046	T	0.44	.	3.9723	0.09458	0.0:0.5468:0.1846:0.2686	.	309	Q8NGD2	OR4K2_HUMAN	K	309	ENSP00000298642:N309K	ENSP00000298642:N309K	N	+	3	2	OR4K2	19415193	0.000000	0.05858	0.053000	0.19242	0.022000	0.10575	-0.990000	0.03732	0.147000	0.19030	-0.462000	0.05337	AAT		0.353	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			A	20345353	T	A	20345353	3	1	118	1	0	0	0	0	1	0	0	0	11072	1403	49	5	929	5	OR4K2	14	20345353	Missense_Mutation	SNP	T	TCGA-13-0924-01A-01W-0421-09		20345353	87004187	48	6503											
RNASE12	493901	genome.wustl.edu	37	14	21058549	21058549	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr14:21058549C>T	ENST00000556526.1	-	1	433	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000553849.1_5'Flank|RNASE11_ENST00000398008.2_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RNASE11_ENST00000555283.1_Intron|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000554006.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|RNASE11_ENST00000555841.1_5'Flank|RNASE11_ENST00000610205.1_5'Flank	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	112						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.E112K(1)		kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CTTGTGCCTTCAATGAGCTGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	14											112	102	105					14																	21058549		2203	4300	6503	20128389	SO:0001583	missense	493901				CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"Ribonucleases, RNase A"	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.334G>A	14.37:g.21058549C>T	ENSP00000450580:p.Glu112Lys		20128389		Missense_Mutation	SNP	ENST00000556526.1	37	CCDS32037.1	.	.	.	.	.	.	.	.	.	.	C	9.799	1.180077	0.21787	.	.	ENSG00000258436;ENSG00000206171	ENST00000556526;ENST00000382999	T;T	0.72394	-0.65;-0.65	4.91	4.02	0.46733	Ribonuclease A, domain (3);	0.720175	0.12884	N	0.431212	T	0.57257	0.2041	N	0.21583	0.68	0.09310	N	1	B	0.25351	0.124	B	0.30943	0.122	T	0.48958	-0.8988	10	0.33141	T	0.24	-25.4683	9.0693	0.36482	0.0:0.9005:0.0:0.0995	.	112	Q5GAN4	RNS12_HUMAN	K	112	ENSP00000450580:E112K;ENSP00000372460:E112K	ENSP00000372460:E112K	E	-	1	0	RNASE12;AL163195.1	20128389	0.007000	0.16637	0.034000	0.17996	0.142000	0.21351	1.951000	0.40333	1.431000	0.47355	0.655000	0.94253	GAA		0.458	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			T	21058549	C	T	21058549	3	4	118	1	0	0	0	0	1	0	0	0	13405	835	29	2	113	2	RNASE12	14	21058549	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	713196	21058549	86290991	49	6504											
KIAA0247	9766	genome.wustl.edu	37	14	70177695	70177695	+	Silent	SNP	G	G	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr14:70177695G>A	ENST00000342745.4	+	6	1224	c.911G>A	c.(910-912)tGa>tAa	p.*304*		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	0						integral component of membrane (GO:0016021)		p.*304*(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		AAAGAAGCATGAGGGCAGCGG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	14											210	174	186					14																	70177695		2203	4300	6503	69247448	SO:0001819	synonymous_variant	9766			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.911G>A	14.37:g.70177695G>A			69247448		Silent	SNP	ENST00000342745.4	37	CCDS9796.1																																																																																				0.547	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		A	70177695	G	A	70177695	2	1	118	1	0	0	0	0	0	0	0	1	8165	1285	45	2		2	KIAA0247	14	70177695	Silent	SNP	G	TCGA-13-0924-01A-01W-0421-09	49119146	70177695	37171845	50	6505											
ESRRB	2103	genome.wustl.edu	37	14	76905830	76905830	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr14:76905830T>C	ENST00000509242.1	+	3	232	c.134T>C	c.(133-135)tTt>tCt	p.F45S	ESRRB_ENST00000380887.2_Missense_Mutation_p.F45S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.F45S|ESRRB_ENST00000556177.1_Missense_Mutation_p.F45S	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	45					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.F45S(1)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGCGGCGGCTTTGGCCTGGCC	0.692																																																1	Substitution - Missense(1)	ovary(1)	14											23	25	24					14																	76905830		2195	4282	6477	75975583	SO:0001583	missense	2103			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.134T>C	14.37:g.76905830T>C	ENSP00000422488:p.Phe45Ser		75975583	A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938108	0.73557	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.92446	-3.03;-3.04;-3.01;-3.04;-3.01	5.13	3.93	0.45458	.	0.056855	0.64402	D	0.000001	T	0.80444	0.4624	N	0.03608	-0.345	0.43175	D	0.994983	B;P	0.41910	0.415;0.764	B;B	0.40199	0.103;0.322	T	0.82717	-0.0319	10	0.87932	D	0	.	7.9123	0.29798	0.4413:0.0:0.0:0.5587	.	45;50	Q5F0P7;E7EWD9	.;.	S	50;45;45;45;45	ENSP00000424992:F50S;ENSP00000422488:F45S;ENSP00000451658:F45S;ENSP00000370270:F45S;ENSP00000261532:F45S	ENSP00000261532:F45S	F	+	2	0	ESRRB	75975583	1.000000	0.71417	0.966000	0.40874	0.896000	0.52359	6.939000	0.75911	1.937000	0.56155	0.533000	0.62120	TTT		0.692	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			C	76905830	T	C	76905830	3	2	118	1	0	0	0	0	1	0	0	0	5261	1841	64	4	136	4	ESRRB	14	76905830	Missense_Mutation	SNP	T	TCGA-13-0924-01A-01W-0421-09	6728135	76905830	30443710	51	6506											
MGA	23269	genome.wustl.edu	37	15	41989143	41989143	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr15:41989143C>A	ENST00000570161.1	+	2	1935	c.1935C>A	c.(1933-1935)agC>agA	p.S645R	MGA_ENST00000219905.7_Missense_Mutation_p.S645R|MGA_ENST00000566586.1_Missense_Mutation_p.S645R|MGA_ENST00000389936.4_Missense_Mutation_p.S645R|MGA_ENST00000545763.1_Missense_Mutation_p.S645R			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S645R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCTGTAAGCCCTGGGAGTA	0.408																																																1	Substitution - Missense(1)	ovary(1)	15											18	16	17					15																	41989143		1859	4099	5958	39776435	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1935C>A	15.37:g.41989143C>A	ENSP00000457035:p.Ser645Arg		39776435	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304215	0.23736	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.42513	0.97;0.97;0.97	5.21	-1.39	0.08997	.	1.671850	0.02275	N	0.068828	T	0.21347	0.0514	N	0.08118	0	0.22866	N	0.998635	B;B	0.17038	0.02;0.005	B;B	0.10450	0.005;0.002	T	0.26052	-1.0114	10	0.87932	D	0	.	0.2689	0.00229	0.2109:0.26:0.2079:0.3212	.	645;645	F5H7K2;E7ENI0	.;.	R	645	ENSP00000219905:S645R;ENSP00000374586:S645R;ENSP00000442467:S645R	ENSP00000219905:S645R	S	+	3	2	MGA	39776435	0.394000	0.25246	0.707000	0.30419	0.435000	0.31806	-0.387000	0.07361	0.037000	0.15575	0.462000	0.41574	AGC		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		A	41989143	C	A	41989143	3	1	118	1	0	0	0	0	1	0	0	0	9540	738	26	3	1941	3	MGA	15	41989143	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09		41989143	60542249	52	6507											
KLHL25	64410	genome.wustl.edu	37	15	86311340	86311340	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr15:86311340T>C	ENST00000337975.5	-	2	1976	c.1702A>G	c.(1702-1704)Atc>Gtc	p.I568V	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.I568V|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	568					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.I568V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						ACTGTGGTGATGCAGTTCCAT	0.587																																																1	Substitution - Missense(1)	ovary(1)	15											119	94	102					15																	86311340		2202	4299	6501	84112344	SO:0001583	missense	64410				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1702A>G	15.37:g.86311340T>C	ENSP00000336800:p.Ile568Val		84112344	B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	T	3.359	-0.130968	0.06753	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.75938	-0.98;-0.98	5.71	-2.54	0.06307	Kelch-type beta propeller (1);	0.386312	0.25964	N	0.027168	T	0.45796	0.1360	N	0.11106	0.095	0.38542	D	0.949241	B	0.02656	0.0	B	0.06405	0.002	T	0.47686	-0.9098	10	0.02654	T	1	.	11.7498	0.51841	0.0:0.5109:0.0:0.4891	.	568	Q9H0H3	ENC2_HUMAN	V	568;537;568	ENSP00000336800:I568V;ENSP00000444739:I568V	ENSP00000336800:I568V	I	-	1	0	KLHL25	84112344	0.998000	0.40836	0.985000	0.45067	0.612000	0.37316	0.418000	0.21230	-0.470000	0.06901	-0.464000	0.05259	ATC		0.587	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		C	86311340	T	C	86311340	3	2	118	1	0	0	0	0	1	0	0	0	8380	1464	51	4	71	4	KLHL25	15	86311340	Missense_Mutation	SNP	T	TCGA-13-0924-01A-01W-0421-09	44322197	86311340	16220052	53	6508											
DNAH3	55567	genome.wustl.edu	37	16	20981259	20981260	+	Missense_Mutation	DNP	TA	TA	CT			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	TA	TA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr16:20981259_20981260TA>CT	ENST00000261383.3	-	52	8311_8312	c.8312_8313TA>AG	c.(8311-8313)cTA>cAG	p.L2771Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2771	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.L2771Q(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGAGCAGCTAGTGCAGCCTC	0.599																																																2	Substitution - Missense(2)	ovary(2)	16																																								20888761	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8312_8313delinsCT	16.37:g.20981259_20981260delinsCT	ENSP00000261383:p.Leu2771Gln		20888760	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	DNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.599	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		CT	20981260	TA	CT	20981259	3	2	118	1	0	0	0	0	1	0	0	0	4603	1509	53	4	4080	4	DNAH3	16	20981259	Missense_Mutation	DNP	TA	TCGA-13-0924-01A-01W-0421-09		20981259	69373494	54	6509											
TP53	7157	genome.wustl.edu	37	17	7577128	7577128	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr17:7577128A>C	ENST00000269305.4	-	8	999	c.810T>G	c.(808-810)ttT>ttG	p.F270L	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F270L|TP53_ENST00000420246.2_Missense_Mutation_p.F270L|TP53_ENST00000359597.4_Missense_Mutation_p.F270L|TP53_ENST00000445888.2_Missense_Mutation_p.F270L	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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F270L(9)|p.0?(8)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*35(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)	CACGCACCTCAAAGCTGTTCC	0.532		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"	30	Substitution - Missense(9)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(2)|Insertion - Frameshift(1)	bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|oesophagus(3)|large_intestine(2)|central_nervous_system(2)|biliary_tract(2)|breast(2)|ovary(2)|upper_aerodigestive_tract(1)|eye(1)|lung(1)|liver(1)	17											58	51	53					17																	7577128		2203	4300	6503	7517853	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.810T>G	17.37:g.7577128A>C	ENSP00000269305:p.Phe270Leu		7517853	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	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049410	0.75846	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	5.13	2.93	0.34026	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	0.99459	0.9808	L	0.49256	1.55	0.53005	D	0.999965	D;B;D;D	0.89917	1.0;0.156;1.0;0.995	D;B;D;D	0.77557	0.99;0.098;0.986;0.984	D	0.99075	1.0835	10	0.87932	D	0	-25.5181	7.8787	0.29610	0.8288:0.0:0.1712:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	270;270;270;270;270;259;138	ENSP00000352610:F270L;ENSP00000269305:F270L;ENSP00000398846:F270L;ENSP00000391127:F270L;ENSP00000391478:F270L;ENSP00000425104:F138L	ENSP00000269305:F270L	F	-	3	2	TP53	7517853	0.653000	0.27358	1.000000	0.80357	0.899000	0.52679	0.030000	0.13688	0.430000	0.26230	0.379000	0.24179	TTT		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577128	A	C	7577128	3	2	118	1	0	0	0	0	1	0	0	0	16381	127	5	5	476	5	TP53	17	7577128	Missense_Mutation	SNP	A	TCGA-13-0924-01A-01W-0421-09		7577128	73618082	55	6510											
CDRT1	374286	genome.wustl.edu	37	17	15501919	15501919	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr17:15501919G>C	ENST00000395906.3	-	8	1481	c.1482C>G	c.(1480-1482)caC>caG	p.H494Q	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.H804Q|CDRT1_ENST00000354433.3_5'UTR|CDRT1_ENST00000583965.1_5'UTR	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	494								p.H494Q(1)|p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TAGTCCCCTGGTGACCACCGA	0.473																																																2	Substitution - Missense(1)|Unknown(1)	ovary(2)	17											39	44	42					17																	15501919		2190	4279	6469	15442644	SO:0001583	missense	374286			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1482C>G	17.37:g.15501919G>C	ENSP00000379242:p.His494Gln		15442644	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.15|14.15	2.451035|2.451035	0.43531|0.43531	.|.	.|.	ENSG00000251537|ENSG00000251537	ENST00000261644;ENST00000395906|ENST00000455584	T|.	0.81415|.	-1.49|.	4.34|4.34	3.34|3.34	0.38264|0.38264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.40222|.	U|.	0.001153|.	T|T	0.81408|0.81408	0.4816|0.4816	M|M	0.93375|0.93375	3.41|3.41	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.998;0.999|.	D|D	0.85912|0.85912	0.1441|0.1441	10|5	0.87932|.	D|.	0|.	.|.	12.0492|12.0492	0.53498|0.53498	0.0931:0.0:0.9069:0.0|0.0931:0.0:0.9069:0.0	.|.	494;818|.	O95170;Q59EB2|.	CDRT1_HUMAN;.|.	Q|S	524;494|819	ENSP00000379242:H494Q|.	ENSP00000261644:H524Q|.	H|T	-|-	3|2	2|0	RP11-385D13.1|RP11-385D13.1	15442644|15442644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.444000|0.444000	0.32077|0.32077	2.010000|2.010000	0.40913|0.40913	2.144000|2.144000	0.66660|0.66660	0.555000|0.555000	0.69702|0.69702	CAC|ACC		0.473	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		C	15501919	G	C	15501919	3	2	118	1	0	0	0	0	1	0	0	0	3174	1252	44	3	796	3	CDRT1	17	15501919	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09	7924791	15501919	65693291	56	6511											
TTC25	83538	genome.wustl.edu	37	17	40095357	40095357	+	RNA	SNP	G	G	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr17:40095357G>A	ENST00000591658.1	+	0	1058							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)		p.Q330Q(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGAATGCCCAGATTGAGCTGG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	17											48	51	50					17																	40095357		2065	4201	6266	37348883			83538			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40095357G>A			37348883	Q6NX40|Q6PJ04|Q9H0K5	Silent	SNP	ENST00000591658.1	37																																																																																					0.537	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		A	40095357	G	A	40095357	1	1	118	0	1	0	0	0	0	0	0	0	16693	933	33	2		2	TTC25	17	40095357	RNA	SNP	G	TCGA-13-0924-01A-01W-0421-09	24593438	40095357	41099853	57	6512											
LAMA3	3909	genome.wustl.edu	37	18	21511090	21511090	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr18:21511090G>T	ENST00000313654.9	+	65	8742	c.8501G>T	c.(8500-8502)aGc>aTc	p.S2834I	LAMA3_ENST00000399516.3_Missense_Mutation_p.S2778I|LAMA3_ENST00000269217.6_Missense_Mutation_p.S1225I|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.S1169I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2834	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		S -> G (in dbSNP:rs1154233). {ECO:0000269|PubMed:15044476, ECO:0000269|PubMed:8077230, ECO:0000269|Ref.6}.		cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S2834I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GATAGCGGCAGCCCAATTTTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	18											99	102	101					18																	21511090		2203	4300	6503	19765088	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8501G>T	18.37:g.21511090G>T	ENSP00000324532:p.Ser2834Ile		19765088	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	2.864	-0.235453	0.05983	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.16743	2.32;2.32;2.32	5.27	1.2	0.21068	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.15349	0.0370	M	0.67953	2.075	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.12156	0.004;0.006;0.007;0.007	T	0.35748	-0.9776	9	0.29301	T	0.29	.	2.0697	0.03610	0.1848:0.1506:0.5092:0.1553	.	1169;1225;2778;2834	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	I	2834;2778;1225	ENSP00000324532:S2834I;ENSP00000382432:S2778I;ENSP00000269217:S1225I	ENSP00000269217:S1225I	S	+	2	0	LAMA3	19765088	0.001000	0.12720	0.001000	0.08648	0.099000	0.18886	0.799000	0.27028	-0.005000	0.14395	-0.345000	0.07892	AGC		0.408	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21511090	G	T	21511090	3	4	118	1	0	0	0	0	1	0	0	0	8607	971	34	3	8934	3	LAMA3	18	21511090	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09		21511090	56566158	58	6513											
MUC16	94025	genome.wustl.edu	37	19	9089509	9089509	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr19:9089509A>T	ENST00000397910.4	-	1	2509	c.2306T>A	c.(2305-2307)gTt>gAt	p.V769D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	769	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V769D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGAAAGAACGGCTGAGCT	0.488																																																1	Substitution - Missense(1)	ovary(1)	19											219	219	219					19																	9089509		2070	4225	6295	8950509	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2306T>A	19.37:g.9089509A>T	ENSP00000381008:p.Val769Asp		8950509	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.000	-0.691152	0.03303	.	.	ENSG00000181143	ENST00000397910	T	0.02863	4.13	1.55	-2.56	0.06268	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.47573	-0.9107	8	0.87932	D	0	.	0.1159	0.00060	0.3388:0.2439:0.1771:0.2401	.	769	B5ME49	.	D	769	ENSP00000381008:V769D	ENSP00000381008:V769D	V	-	2	0	MUC16	8950509	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.110000	0.10824	-0.928000	0.03761	-1.294000	0.01345	GTT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9089509	A	T	9089509	3	4	118	1	0	0	0	0	1	0	0	0	9973	43	2	5	41553	5	MUC16	19	9089509	Missense_Mutation	SNP	A	TCGA-13-0924-01A-01W-0421-09		9089509	50039474	59	6514											
UNC13A	23025	genome.wustl.edu	37	19	17785509	17785509	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr19:17785509C>T	ENST00000519716.2	-	3	108	c.109G>A	c.(109-111)Gcg>Acg	p.A37T	UNC13A_ENST00000550896.1_Missense_Mutation_p.A37T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A37T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A37T|UNC13A_ENST00000428389.2_Missense_Mutation_p.A125T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A37T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	37	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.A125T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCCCGCACCGCGATGGTCGTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	19											103	104	104					19																	17785509		2108	4239	6347	17646509	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.109G>A	19.37:g.17785509C>T	ENSP00000429562:p.Ala37Thr		17646509	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498397	0.85069	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.93	4.93	0.64822	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.71367	0.3331	N	0.21448	0.665	0.49582	D	0.999808	D	0.89917	1.0	D	0.83275	0.996	T	0.73874	-0.3845	10	0.49607	T	0.09	-9.1024	15.6143	0.76753	0.0:1.0:0.0:0.0	.	37	Q9UPW8	UN13A_HUMAN	T	37;125;37;37;37;37	ENSP00000429562:A37T;ENSP00000400409:A125T;ENSP00000252773:A37T;ENSP00000447236:A37T;ENSP00000447572:A37T;ENSP00000446831:A37T	ENSP00000252773:A37T	A	-	1	0	UNC13A	17646509	1.000000	0.71417	0.815000	0.32552	0.965000	0.64279	5.939000	0.70179	2.288000	0.76882	0.313000	0.20887	GCG		0.597	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		T	17785509	C	T	17785509	3	4	118	1	0	0	0	0	1	0	0	0	16984	768	27	1	5162	1	UNC13A	19	17785509	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	8696000	17785509	41343474	60	6515											
PSG7	5676	genome.wustl.edu	37	19	43429963	43429963	+	RNA	SNP	C	C	A	rs184492103	byFrequency	TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr19:43429963C>A	ENST00000406070.2	-	0	1301				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GCTTTCCTTGCCAGTGGCTGA	0.473																																																0			19											195	198	197					19																	43429963		2201	4300	6501	48121803			5676					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43429963C>A			48121803	Q15232	Missense_Mutation	SNP	ENST00000406070.2	37																																																																																					0.473	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		A	43429963	C	A	43429963	1	1	118	0	1	0	0	0	0	0	0	0	12663	739	26	3		3	PSG7	19	43429963	RNA	SNP	C	TCGA-13-0924-01A-01W-0421-09	25644454	43429963	15699020	61	6516											
SIGLEC6	946	genome.wustl.edu	37	19	52031043	52031043	+	Silent	SNP	T	T	C			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr19:52031043T>C	ENST00000425629.3	-	7	1300	c.1146A>G	c.(1144-1146)caA>caG	p.Q382Q	SIGLEC6_ENST00000346477.3_Silent_p.Q366Q|SIGLEC6_ENST00000436458.1_Silent_p.Q330Q|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000359982.4_Intron|SIGLEC6_ENST00000343300.4_Intron	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	382					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.Q355Q(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CATCCGTGTTTTGCACTGGCT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	19											183	181	181					19																	52031043		1943	4154	6097	56722855	SO:0001819	synonymous_variant	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1146A>G	19.37:g.52031043T>C			56722855	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	CCDS12834.3																																																																																				0.488	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		C	52031043	T	C	52031043	2	2	118	1	0	0	0	0	0	0	0	1	14315	1838	64	4		4	SIGLEC6	19	52031043	Silent	SNP	T	TCGA-13-0924-01A-01W-0421-09	8601080	52031043	7097940	62	6517											
ZNF264	9422	genome.wustl.edu	37	19	57722724	57722724	+	Missense_Mutation	SNP	G	G	A	rs147396716	byFrequency	TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr19:57722724G>A	ENST00000263095.6	+	4	673	c.259G>A	c.(259-261)Gac>Aac	p.D87N	ZNF264_ENST00000536056.1_Missense_Mutation_p.D87N	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D87N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TCTTTCAGGCGACAAAGGAAA	0.413													.|||	10	0.00199681	0.0076	0	5008	,	,		22097	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19						G	ASN/ASP	12,4394	19.1+/-41.9	0,12,2191	41	34	36		259	-0.8	0	19	dbSNP_134	36	0,8600		0,0,4300	yes	missense	ZNF264	NM_003417.4	23	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	possibly-damaging	87/628	57722724	12,12994	2203	4300	6503	62414536	SO:0001583	missense	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.259G>A	19.37:g.57722724G>A	ENSP00000263095:p.Asp87Asn		62414536	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	8.647	0.897272	0.17686	0.002724	0.0	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.32988	1.43;1.43	2.79	-0.836	0.10770	.	.	.	.	.	T	0.19167	0.0460	L	0.38838	1.175	0.09310	N	1	B	0.21688	0.059	B	0.11329	0.006	T	0.24476	-1.0159	9	0.27082	T	0.32	.	5.2004	0.15260	0.2355:0.1717:0.5928:0.0	.	87	O43296	ZN264_HUMAN	N	87	ENSP00000263095:D87N;ENSP00000440376:D87N	ENSP00000263095:D87N	D	+	1	0	ZNF264	62414536	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.370000	0.07523	-0.339000	0.08401	-1.164000	0.01763	GAC		0.413	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			A	57722724	G	A	57722724	3	1	118	1	0	0	0	0	1	0	0	0	17804	1058	37	1	273	1	ZNF264	19	57722724	Missense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09	5691681	57722724	1406259	63	6518											
CBLN4	140689	genome.wustl.edu	37	20	54579077	54579077	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr20:54579077C>A	ENST00000064571.2	-	1	1451	c.151G>T	c.(151-153)Gac>Tac	p.D51Y		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	51					protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.D51Y(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CCCTTGGAGTCCGTGGCCGGG	0.682																																																1	Substitution - Missense(1)	ovary(1)	20											62	62	62					20																	54579077		2203	4300	6503	54012484	SO:0001583	missense	140689			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.151G>T	20.37:g.54579077C>A	ENSP00000064571:p.Asp51Tyr		54012484	A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122235	0.94429	.	.	ENSG00000054803	ENST00000064571	D	0.85629	-2.01	5.16	5.16	0.70880	.	0.144833	0.64402	D	0.000005	D	0.88749	0.6521	M	0.66939	2.045	0.80722	D	1	D	0.54047	0.964	P	0.50791	0.65	D	0.90180	0.4242	10	0.87932	D	0	-29.2465	19.0208	0.92915	0.0:1.0:0.0:0.0	.	51	Q9NTU7	CBLN4_HUMAN	Y	51	ENSP00000064571:D51Y	ENSP00000064571:D51Y	D	-	1	0	CBLN4	54012484	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.550000	0.67268	2.563000	0.86464	0.655000	0.94253	GAC		0.682	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		A	54579077	C	A	54579077	3	1	118	1	0	0	0	0	1	0	0	0	2707	855	30	3	466	3	CBLN4	20	54579077	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09		54579077	8446443	64	6519											
DIDO1	11083	genome.wustl.edu	37	20	61527958	61527958	+	Missense_Mutation	SNP	C	C	T	rs376360803		TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chr20:61527958C>T	ENST00000266070.4	-	7	2304	c.1979G>A	c.(1978-1980)aGt>aAt	p.S660N	DIDO1_ENST00000395335.2_Missense_Mutation_p.S660N|DIDO1_ENST00000395343.1_Missense_Mutation_p.S660N|DIDO1_ENST00000395340.1_Missense_Mutation_p.S660N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	660					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S660N(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGTGCAGCACTCATAGCCCC	0.517																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											1	Substitution - Missense(1)	ovary(1)	20						C	ASN/SER,ASN/SER,ASN/SER,ASN/SER	0,4406		0,0,2203	90	103	99		1979,1979,1979,1979	3	0	20		99	1,8599		0,1,4299	no	missense,missense,missense,missense	DIDO1	NM_001193369.1,NM_001193370.1,NM_033081.2,NM_080797.3	46,46,46,46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	660/2241,660/1190,660/2241,660/1190	61527958	1,13005	2203	4300	6503	60998403	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1979G>A	20.37:g.61527958C>T	ENSP00000266070:p.Ser660Asn		60998403	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589038	0.28357	0.0	1.16E-4	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13538	2.94;2.94;2.58;2.58	5.95	3.01	0.34805	Transcription elongation factor S-II, central domain (1);	0.260582	0.26859	N	0.022129	T	0.07188	0.0182	N	0.15975	0.35	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.35500	-0.9786	10	0.23302	T	0.38	-7.2435	8.3859	0.32499	0.0:0.7012:0.0:0.2988	.	660;660	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	N	660	ENSP00000266070:S660N;ENSP00000378752:S660N;ENSP00000378749:S660N;ENSP00000378744:S660N	ENSP00000266070:S660N	S	-	2	0	DIDO1	60998403	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.451000	0.21779	0.866000	0.35629	0.655000	0.94253	AGT		0.517	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61527958	C	T	61527958	3	4	118	1	0	0	0	0	1	0	0	0	4522	565	20	2	4812	2	DIDO1	20	61527958	Missense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09	6948881	61527958	1497562	65	6520											
CASK	8573	genome.wustl.edu	37	X	41446234	41446234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chrX:41446234C>A	ENST00000378163.1	-	14	1714	c.1240G>T	c.(1240-1242)Gaa>Taa	p.E414*	CASK_ENST00000378154.1_Nonsense_Mutation_p.E414*|CASK_ENST00000318588.9_Nonsense_Mutation_p.E414*|CASK_ENST00000361962.4_Nonsense_Mutation_p.E414*|CASK_ENST00000442742.2_Nonsense_Mutation_p.E414*|CASK_ENST00000378166.4_Nonsense_Mutation_p.E414*|CASK_ENST00000378158.1_Nonsense_Mutation_p.E414*|CASK_ENST00000421587.2_Nonsense_Mutation_p.E408*			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	414	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.E414*(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GAAATTTCTTCCAATACCTAA	0.264																																					NSCLC(42;104 1086 3090 27189 35040)											1	Substitution - Nonsense(1)	ovary(1)	X											75	68	70					X																	41446234		2202	4294	6496	41331178	SO:0001587	stop_gained	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1240G>T	X.37:g.41446234C>A	ENSP00000367405:p.Glu414*		41331178	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Nonsense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	C	39	7.620493	0.98393	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	.	.	.	5.33	5.33	0.75918	.	0.000000	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.0832	0.89449	0.0:1.0:0.0:0.0	.	.	.	.	X	408;414;414;414;29;414;414;414;414	.	ENSP00000322727:E414X	E	-	1	0	CASK	41331178	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.408000	0.80041	2.206000	0.71126	0.506000	0.49869	GAA		0.264	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		A	41446234	C	A	41446234	4	1	118	1	0	0	0	0	0	1	0	0	2665	864	30	3	1596	3	CASK	23	41446234	Nonsense_Mutation	SNP	C	TCGA-13-0924-01A-01W-0421-09		41446234	113824326	66	6521											
PAGE2	203569	genome.wustl.edu	37	X	55117791	55117791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0924-01A-01W-0421-09	TCGA-13-0924-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	510dda3c-6a1f-4781-972f-c9c270608c72	ffae93da-42b4-4115-b2c7-1fad830979c6	g.chrX:55117791G>T	ENST00000374968.4	+	4	324	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	PAGE2_ENST00000374965.1_Nonsense_Mutation_p.E57*	NM_207339.2	NP_997222.1	Q7Z2X7	PAGE2_HUMAN	P antigen family, member 2 (prostate associated)	74								p.E74*(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						TTTTCAACAGGAACTGGCTCT	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	X											75	80	78					X																	55117791		2171	4290	6461	55134516	SO:0001587	stop_gained	203569			BC054022	CCDS14367.1	Xp11.22	2009-06-17			ENSG00000234068	ENSG00000234068			31804	protein-coding gene	gene with protein product		300738	"G antigen, family C, 2"	GAGEC2		9724777	Standard	NM_207339		Approved	MGC62094, PAGE-2, CT16.4		Q7Z2X7	OTTHUMG00000021648	ENST00000374968.4:c.220G>T	X.37:g.55117791G>T	ENSP00000364107:p.Glu74*		55134516	Q5JRK7|Q5JRK8	Nonsense_Mutation	SNP	ENST00000374968.4	37	CCDS14367.1	.	.	.	.	.	.	.	.	.	.	g	8.925	0.962096	0.18583	.	.	ENSG00000234068	ENST00000374968;ENST00000374965	.	.	.	1.13	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.43494	A	0.995731	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.3082	0.15815	0.0:0.0:1.0:0.0	.	.	.	.	X	74;57	.	ENSP00000364104:E57X	E	+	1	0	PAGE2	55134516	0.024000	0.19004	0.003000	0.11579	0.018000	0.09664	1.535000	0.36061	0.862000	0.35528	0.287000	0.19450	GAA		0.403	PAGE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056857.1	NM_207339		T	55117791	G	T	55117791	4	4	118	1	0	0	0	0	0	1	0	0	11390	1175	41	3	230	3	PAGE2	23	55117791	Nonsense_Mutation	SNP	G	TCGA-13-0924-01A-01W-0421-09	13671557	55117791	100152769	67	6522											
ATP13A2	23400	genome.wustl.edu	37	1	17331268	17331268	+	Silent	SNP	C	C	A	rs140631323		TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr1:17331268C>A	ENST00000326735.8	-	5	429	c.396G>T	c.(394-396)gcG>gcT	p.A132A	ATP13A2_ENST00000341676.5_Silent_p.A132A|ATP13A2_ENST00000452699.1_Silent_p.A132A|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	132					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.A132A(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCCCAACTGCCGCCTGGCTCC	0.657																																																1	Substitution - coding silent(1)	ovary(1)	1											66	72	70					1																	17331268		2203	4300	6503	17203855	SO:0001819	synonymous_variant	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.396G>T	1.37:g.17331268C>A			17203855	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	3.940	-0.014502	0.07681	.	.	ENSG00000159363	ENST00000510069;ENST00000508222;ENST00000509619	.	.	.	4.21	-7.06	0.01568	.	.	.	.	.	T	0.16938	0.0407	.	.	.	0.21386	N	0.999707	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	-8.9754	2.6457	0.04983	0.0988:0.2671:0.1955:0.4386	.	.	.	.	C	108;44;125	.	.	G	-	1	0	ATP13A2	17203855	0.000000	0.05858	0.176000	0.23000	0.401000	0.30781	-4.669000	0.00201	-1.581000	0.01642	-0.657000	0.03884	GGC		0.657	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		A	17331268	C	A	17331268	2	1	119	1	0	0	0	0	0	0	0	1	1124	639	23	3		3	ATP13A2	1	17331268	Silent	SNP	C	TCGA-13-1403-01A-01W-0494-09		17331268	231919353	1	6523											
ADAMTSL4	54507	genome.wustl.edu	37	1	150528034	150528034	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr1:150528034G>A	ENST00000369038.2	+	6	1565	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R455H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R478H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R455H			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	455					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.R455H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTGGCTGGACGCTGTCTGGTG	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											82	73	76					1																	150528034		2203	4300	6503	148794658	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1364G>A	1.37:g.150528034G>A	ENSP00000358034:p.Arg455His		148794658	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525224	0.44969	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.70164	0.04;0.04;-0.46;0.04	4.69	1.78	0.24846	.	.	.	.	.	T	0.36468	0.0968	L	0.48642	1.525	0.49798	D	0.999823	B;B;B;B	0.28667	0.171;0.069;0.14;0.219	B;B;B;B	0.21360	0.021;0.022;0.015;0.034	T	0.22730	-1.0208	9	0.51188	T	0.08	.	6.8714	0.24123	0.3773:0.0:0.6227:0.0	.	478;478;455;455	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	H	455;455;478;455	ENSP00000358037:R455H;ENSP00000271643:R455H;ENSP00000358035:R478H;ENSP00000358034:R455H	ENSP00000271643:R455H	R	+	2	0	ADAMTSL4	148794658	0.961000	0.32948	0.998000	0.56505	0.969000	0.65631	0.685000	0.25378	0.203000	0.20529	-0.258000	0.10820	CGC		0.547	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		A	150528034	G	A	150528034	3	1	119	1	0	0	0	0	1	0	0	0	277	1087	38	1	1386	1	ADAMTSL4	1	150528034	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	133196766	150528034	98722587	2	6524											
FLG2	388698	genome.wustl.edu	37	1	152326906	152326906	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr1:152326906C>A	ENST00000388718.5	-	3	3428	c.3356G>T	c.(3355-3357)gGa>gTa	p.G1119V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1119	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1119V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCCGATCCATATTGGCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											233	237	236					1																	152326906		2203	4300	6503	150593530	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3356G>T	1.37:g.152326906C>A	ENSP00000373370:p.Gly1119Val		150593530	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570535	0.28003	.	.	ENSG00000143520	ENST00000388718	T	0.24350	1.86	4.37	2.44	0.29823	.	.	.	.	.	T	0.16128	0.0388	L	0.29908	0.895	0.19945	N	0.999949	D	0.76494	0.999	D	0.70716	0.97	T	0.10200	-1.0640	9	0.24483	T	0.36	.	7.2788	0.26300	0.0:0.7884:0.0:0.2116	.	1119	Q5D862	FILA2_HUMAN	V	1119	ENSP00000373370:G1119V	ENSP00000373370:G1119V	G	-	2	0	FLG2	150593530	0.000000	0.05858	0.009000	0.14445	0.030000	0.12068	0.159000	0.16442	0.286000	0.22352	0.558000	0.71614	GGA		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152326906	C	A	152326906	3	1	119	1	0	0	0	0	1	0	0	0	5923	855	30	3	3823	3	FLG2	1	152326906	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09	1798872	152326906	96923715	3	6525											
CACNA1E	777	genome.wustl.edu	37	1	181767517	181767517	+	Silent	SNP	G	G	T	rs377180948		TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr1:181767517G>T	ENST00000367573.2	+	48	6489	c.6489G>T	c.(6487-6489)ccG>ccT	p.P2163P	CACNA1E_ENST00000357570.5_Silent_p.P2114P|CACNA1E_ENST00000360108.3_Silent_p.P2144P|CACNA1E_ENST00000367567.4_Silent_p.P1727P|CACNA1E_ENST00000526775.1_Silent_p.P2101P|CACNA1E_ENST00000367570.1_Silent_p.P2120P|CACNA1E_ENST00000358338.5_Silent_p.P2052P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2163					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.P2120P(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACCCGTCCCGCCAAAGCCCC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	1						G	,,	2,3976		0,2,1987	79	91	87		6360,6489,6303	-10.2	0.5	1		87	0,8312		0,0,4156	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	,,	0,2,6143	TT,TG,GG		0.0,0.0503,0.0163	,,	2120/2271,2163/2314,2101/2252	181767517	2,12288	1989	4156	6145	180034140	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6489G>T	1.37:g.181767517G>T			180034140	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181767517	G	T	181767517	2	4	119	1	0	0	0	0	0	0	0	1	2542	1074	38	3		3	CACNA1E	1	181767517	Silent	SNP	G	TCGA-13-1403-01A-01W-0494-09	29440611	181767517	67483104	4	6526											
RAB7L1	8934	genome.wustl.edu	37	1	205740628	205740628	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr1:205740628G>A	ENST00000367139.3	-	4	653	c.350C>T	c.(349-351)cCg>cTg	p.P117L	RAB7L1_ENST00000437324.2_Missense_Mutation_p.P45L|RAB7L1_ENST00000235932.4_Missense_Mutation_p.P117L|RAB7L1_ENST00000414729.1_Missense_Mutation_p.P117L|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000446390.2_Missense_Mutation_p.P93L	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		117					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P117L(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCAGGGCACCGGCTCTCCATT	0.488																																					Pancreas(25;658 872 27763 34889 38531)											2	Substitution - Missense(2)	ovary(1)|endometrium(1)	1											269	259	263					1																	205740628		2203	4300	6503	204007251	SO:0001583	missense	8934																														ENST00000367139.3:c.350C>T	1.37:g.205740628G>A	ENSP00000356107:p.Pro117Leu		204007251	B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510860	0.44660	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	T;T;T;T;T	0.79749	-1.3;-1.3;-0.45;-1.3;-1.3	5.41	3.53	0.40419	Small GTP-binding protein domain (1);	0.192953	0.45867	N	0.000331	T	0.72558	0.3475	L	0.39898	1.24	0.38966	D	0.958646	P;P	0.43662	0.814;0.717	B;B	0.37888	0.162;0.26	T	0.71623	-0.4537	10	0.51188	T	0.08	-9.7494	14.2633	0.66099	0.1025:0.0:0.8975:0.0	.	93;117	B4E1K3;O14966	.;RAB7L_HUMAN	L	117;117;45;93;117	ENSP00000356107:P117L;ENSP00000235932:P117L;ENSP00000416613:P45L;ENSP00000389899:P93L;ENSP00000402910:P117L	ENSP00000235932:P117L	P	-	2	0	RAB7L1	204007251	1.000000	0.71417	0.244000	0.24202	0.886000	0.51366	4.247000	0.58750	0.269000	0.21961	-1.628000	0.00784	CCG		0.488	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			A	205740628	G	A	205740628	3	1	119	1	0	0	0	0	1	0	0	0	12958	1116	39	1	273	1	RAB7L1	1	205740628	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	23973111	205740628	43509993	5	6527											
CENPF	1063	genome.wustl.edu	37	1	214795474	214795474	+	Silent	SNP	A	A	G			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr1:214795474A>G	ENST00000366955.3	+	7	1086	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K306K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GACATGAAAAAGAAATGAAAG	0.343																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - coding silent(1)	ovary(1)	1											102	106	105					1																	214795474		2203	4300	6503	212862097	SO:0001819	synonymous_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.918A>G	1.37:g.214795474A>G			212862097	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																				0.343	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214795474	A	G	214795474	2	3	119	1	0	0	0	0	0	0	0	1	3231	69	3	4		4	CENPF	1	214795474	Silent	SNP	A	TCGA-13-1403-01A-01W-0494-09	9054846	214795474	34455147	6	6528											
TTN	7273	genome.wustl.edu	37	2	179472248	179472248	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr2:179472248C>T	ENST00000591111.1	-	227	48468	c.48244G>A	c.(48244-48246)Gtt>Att	p.V16082I	TTN_ENST00000342992.6_Missense_Mutation_p.V15155I|TTN_ENST00000342175.6_Missense_Mutation_p.V8850I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8783I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8658I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V17723I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16082	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V8658I(1)|p.V15155I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTCCAACGTTGTCTATT	0.433																																																2	Substitution - Missense(2)	ovary(2)	2											426	401	409					2																	179472248		1904	4130	6034	179180493	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48244G>A	2.37:g.179472248C>T	ENSP00000465570:p.Val16082Ile		179180493	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.73	2.026818	0.35797	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62233	0.2411	L	0.28054	0.825	0.39843	D	0.973136	D;D;D;D	0.54047	0.964;0.964;0.964;0.964	B;B;B;P	0.44860	0.386;0.386;0.386;0.462	T	0.68002	-0.5524	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	8658;8783;8850;16082	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15155;8658;8850;8783;8658	ENSP00000343764:V15155I;ENSP00000434586:V8658I;ENSP00000340554:V8850I;ENSP00000352154:V8783I	ENSP00000340554:V8850I	V	-	1	0	TTN	179180493	1.000000	0.71417	0.976000	0.42696	0.856000	0.48823	5.731000	0.68554	2.840000	0.97914	0.655000	0.94253	GTT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179472248	C	T	179472248	3	4	119	1	0	0	0	0	1	0	0	0	16735	536	19	1	54870	1	TTN	2	179472248	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		179472248	63727125	7	6529											
GRM7	2917	genome.wustl.edu	37	3	7620692	7620692	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr3:7620692C>T	ENST00000357716.4	+	8	2373	c.2099C>T	c.(2098-2100)aCa>aTa	p.T700I	GRM7_ENST00000486284.1_Missense_Mutation_p.T700I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.T700I|GRM7_ENST00000402647.2_Missense_Mutation_p.T700I|GRM7_ENST00000389336.4_Missense_Mutation_p.T700I	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	700					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.T700I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ATAAGCCCAACATCACAACTG	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											121	105	110					3																	7620692		2203	4300	6503	7595692	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2099C>T	3.37:g.7620692C>T	ENSP00000350348:p.Thr700Ile		7595692	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870164	0.33069	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	L	0.37507	1.11	0.58432	D	0.999999	B;P;D;D;B	0.89917	0.03;0.728;1.0;0.997;0.049	B;P;D;D;B	0.87578	0.063;0.447;0.998;0.995;0.037	D	0.89623	0.3850	10	0.44086	T	0.13	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	700;700;455;700;700	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	I	700	ENSP00000350348:T700I;ENSP00000417536:T700I;ENSP00000373987:T700I;ENSP00000385664:T700I;ENSP00000384585:T700I	ENSP00000350348:T700I	T	+	2	0	GRM7	7595692	1.000000	0.71417	0.448000	0.26945	0.133000	0.20885	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACA		0.423	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		T	7620692	C	T	7620692	3	4	119	1	0	0	0	0	1	0	0	0	6802	478	17	2	2129	2	GRM7	3	7620692	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		7620692	190401738	8	6530											
ZNF167	55888	genome.wustl.edu	37	3	44612517	44612517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr3:44612517G>T	ENST00000273320.3	+	6	2344	c.1915G>T	c.(1915-1917)Gag>Tag	p.E639*	ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.E639*|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	639					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.E639*(1)									TAAATGCAATGAGTGTGGAAA	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	3											65	68	67					3																	44612517		2203	4300	6503	44587521	SO:0001587	stop_gained	55888			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1915G>T	3.37:g.44612517G>T	ENSP00000273320:p.Glu639*		44587521	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Nonsense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	40	8.005097	0.98605	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	.	.	.	4.2	4.2	0.49525	.	0.502773	0.14878	N	0.293107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.0482	15.5027	0.75713	0.0:0.0:1.0:0.0	.	.	.	.	X	639;639;77	.	ENSP00000273320:E639X	E	+	1	0	ZNF167	44587521	0.025000	0.19082	0.831000	0.32960	0.967000	0.64934	1.401000	0.34589	2.179000	0.69175	0.655000	0.94253	GAG		0.408	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		T	44612517	G	T	44612517	4	4	119	1	0	0	0	0	0	1	0	0	17741	1291	45	3	1933	3	ZNF167	3	44612517	Nonsense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	36991825	44612517	153409913	9	6531											
ERC2	26059	genome.wustl.edu	37	3	56330282	56330282	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr3:56330282A>T	ENST00000288221.6	-	3	1094	c.839T>A	c.(838-840)tTg>tAg	p.L280*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	280						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.L280*(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTCTTCCTCAAAAGGAACAG	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	3											229	229	229					3																	56330282		1972	4174	6146	56305322	SO:0001587	stop_gained	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.839T>A	3.37:g.56330282A>T	ENSP00000288221:p.Leu280*		56305322	Q2T9F6|Q86TK4	Nonsense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	A	40	8.076169	0.98640	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0997	16.2322	0.82352	1.0:0.0:0.0:0.0	.	.	.	.	X	280	.	ENSP00000288221:L280X	L	-	2	0	ERC2	56305322	1.000000	0.71417	0.931000	0.37212	0.996000	0.88848	9.287000	0.95975	2.288000	0.76882	0.528000	0.53228	TTG		0.493	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		T	56330282	A	T	56330282	4	4	119	1	0	0	0	0	0	1	0	0	5211	131	5	5	2084	5	ERC2	3	56330282	Nonsense_Mutation	SNP	A	TCGA-13-1403-01A-01W-0494-09	11717765	56330282	141692148	10	6532											
MORC1	27136	genome.wustl.edu	37	3	108773723	108773723	+	Silent	SNP	G	G	A	rs7631480	byFrequency	TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr3:108773723G>A	ENST00000483760.1	-	14	1225	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	MORC1_ENST00000232603.5_Silent_p.G394G					MORC family CW-type zinc finger 1									p.G394G(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCACGCCTGCGCCAAGTCTGA	0.303													g|||	11	0.00219649	0.0076	0	5008	,	,		16447	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	3						A		34,4372	38.4+/-70.7	0,34,2169	73	70	71		1182	-6	0.6	3	dbSNP_116	71	0,8600		0,0,4300	no	coding-synonymous	MORC1	NM_014429.3		0,34,6469	AA,AG,GG		0.0,0.7717,0.2614		394/985	108773723	34,12972	2203	4300	6503	110256413	SO:0001819	synonymous_variant	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1182C>T	3.37:g.108773723G>A			110256413		Silent	SNP	ENST00000483760.1	37																																																																																					0.303	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108773723	G	A	108773723	2	1	119	1	0	0	0	0	0	0	0	1	9701	1074	38	1		1	MORC1	3	108773723	Silent	SNP	G	TCGA-13-1403-01A-01W-0494-09	52443441	108773723	89248707	11	6533											
ADCY5	111	genome.wustl.edu	37	3	123010123	123010123	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr3:123010123C>T	ENST00000462833.1	-	18	4376	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R705H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R713H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1055					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R1055H(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCGCCGCTCGCGGGCCAGGAA	0.602																																																1	Substitution - Missense(1)	ovary(1)	3											84	71	76					3																	123010123		2203	4300	6503	124492813	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3164G>A	3.37:g.123010123C>T	ENSP00000419361:p.Arg1055His		124492813	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837652	0.91117	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;D;D	0.81996	-1.14;-1.54;-1.56	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.076544	0.53938	D	0.000055	D	0.84719	0.5534	M	0.71871	2.18	0.58432	D	0.999999	P;D	0.56035	0.602;0.974	B;P	0.51918	0.042;0.684	D	0.85312	0.1079	10	0.56958	D	0.05	.	8.6843	0.34227	0.0:0.8609:0.0:0.1391	.	1055;713	O95622;B3KWA8	ADCY5_HUMAN;.	H	1055;713;705	ENSP00000419361:R1055H;ENSP00000418537:R713H;ENSP00000308685:R705H	ENSP00000308685:R705H	R	-	2	0	ADCY5	124492813	0.993000	0.37304	0.992000	0.48379	0.962000	0.63368	3.012000	0.49575	2.362000	0.80069	0.563000	0.77884	CGC		0.602	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		T	123010123	C	T	123010123	3	4	119	1	0	0	0	0	1	0	0	0	297	768	27	1	637	1	ADCY5	3	123010123	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09	14236400	123010123	75012307	12	6534											
PCOLCE2	26577	genome.wustl.edu	37	3	142561848	142561848	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr3:142561848G>T	ENST00000295992.3	-	4	797	c.491C>A	c.(490-492)tCt>tAt	p.S164Y	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S164Y	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	164	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.S164Y(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTTTTAAAAGAGCCGGAAGG	0.468																																																1	Substitution - Missense(1)	ovary(1)	3											81	84	83					3																	142561848		2203	4300	6503	144044538	SO:0001583	missense	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.491C>A	3.37:g.142561848G>T	ENSP00000295992:p.Ser164Tyr		144044538	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289062	0.23478	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.27890	1.64;1.64	5.22	4.32	0.51571	CUB (5);	0.274051	0.42420	D	0.000709	T	0.43188	0.1236	L	0.46947	1.48	0.36974	D	0.893979	P	0.42248	0.774	P	0.52710	0.707	T	0.54450	-0.8292	10	0.72032	D	0.01	-24.3321	15.6884	0.77430	0.0:0.1374:0.8626:0.0	.	164	Q9UKZ9	PCOC2_HUMAN	Y	164	ENSP00000295992:S164Y;ENSP00000419842:S164Y	ENSP00000295992:S164Y	S	-	2	0	PCOLCE2	144044538	1.000000	0.71417	0.990000	0.47175	0.072000	0.16883	7.360000	0.79487	1.389000	0.46526	0.555000	0.69702	TCT		0.468	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		T	142561848	G	T	142561848	3	4	119	1	0	0	0	0	1	0	0	0	11595	942	33	3	780	3	PCOLCE2	3	142561848	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	19551725	142561848	55460582	13	6535											
MED12L	116931	genome.wustl.edu	37	3	151130982	151130982	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr3:151130982G>T	ENST00000474524.1	+	40	6129	c.6091G>T	c.(6091-6093)Gtg>Ttg	p.V2031L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2031	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.V2031L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTGATGCTGTGCTGACTTC	0.557																																																1	Substitution - Missense(1)	ovary(1)	3											88	81	84					3																	151130982		2203	4300	6503	152613672	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6091G>T	3.37:g.151130982G>T	ENSP00000417235:p.Val2031Leu		152613672	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504429	0.26949	.	.	ENSG00000144893	ENST00000474524	T	0.57107	0.42	5.61	5.61	0.85477	.	0.557342	0.18927	N	0.127308	T	0.29817	0.0745	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.10450	0.005	T	0.16660	-1.0395	10	0.09590	T	0.72	-19.2088	11.8258	0.52267	0.0811:0.0:0.9189:0.0	.	2031	Q86YW9	MD12L_HUMAN	L	2031	ENSP00000417235:V2031L	ENSP00000417235:V2031L	V	+	1	0	MED12L	152613672	0.988000	0.35896	0.992000	0.48379	0.968000	0.65278	2.678000	0.46900	2.636000	0.89361	0.655000	0.94253	GTG		0.557	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		T	151130982	G	T	151130982	3	4	119	1	0	0	0	0	1	0	0	0	9429	1377	48	3	6249	3	MED12L	3	151130982	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	8569134	151130982	46891448	14	6536											
GABRA2	2555	genome.wustl.edu	37	4	46305476	46305476	+	Splice_Site	SNP	C	C	A			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr4:46305476C>A	ENST00000510861.1	-	8	1030		c.e8+1		GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000515082.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	tattCACTCACCAAACACAGT	0.373																																																1	Unknown(1)	ovary(1)	4											107	102	103					4																	46305476		2203	4300	6503	46000233	SO:0001630	splice_region_variant	2555				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.856+1G>T	4.37:g.46305476C>A			46000233	A8K0U7|B7Z1H8|Q59G14	Splice_Site	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750108	0.69533	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0281	0.89275	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRA2	46000233	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.776000	0.85560	2.574000	0.86865	0.655000	0.94253	.		0.373	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		Intron	A	46305476	C	A	46305476	5	1	119	1	0	0	0	0	0	0	1	0	6161	521	18	3	510	3	GABRA2	4	46305476	Splice_Site	SNP	C	TCGA-13-1403-01A-01W-0494-09		46305476	144848800	15	6537											
C4orf35	85438	genome.wustl.edu	37	4	71201244	71201244	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr4:71201244C>G	ENST00000273936.5	+	1	562	c.488C>G	c.(487-489)tCt>tGt	p.S163C		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	163					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.S163C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTGAAGTCTCTGGCACACTA	0.413																																																1	Substitution - Missense(1)	ovary(1)	4											54	57	56					4																	71201244		2201	4298	6499	71235833	SO:0001583	missense	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.488C>G	4.37:g.71201244C>G	ENSP00000273936:p.Ser163Cys		71235833	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008367	0.54361	.	.	ENSG00000145309	ENST00000273936	T	0.37058	1.22	4.16	4.16	0.48862	.	0.385300	0.19291	N	0.117890	T	0.46229	0.1382	L	0.34521	1.04	0.21861	N	0.9995	D	0.76494	0.999	D	0.68483	0.958	T	0.23976	-1.0173	10	0.72032	D	0.01	-20.455	12.264	0.54668	0.0:1.0:0.0:0.0	.	163	Q96KC9	CABS1_HUMAN	C	163	ENSP00000273936:S163C	ENSP00000273936:S163C	S	+	2	0	CABS1	71235833	0.951000	0.32395	0.354000	0.25760	0.013000	0.08279	1.874000	0.39568	2.609000	0.88269	0.655000	0.94253	TCT		0.413	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		G	71201244	C	G	71201244	3	3	119	1	0	0	0	0	1	0	0	0	2265	913	32	3	490	3	C4orf35	4	71201244	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09	24895768	71201244	119953032	16	6538											
NSUN2	54888	genome.wustl.edu	37	5	6600248	6600248	+	Missense_Mutation	SNP	G	G	A	rs190753127		TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr5:6600248G>A	ENST00000264670.6	-	19	2406	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	NSUN2_ENST00000539938.1_Missense_Mutation_p.L463F|NSUN2_ENST00000506139.1_Missense_Mutation_p.L664F	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	699					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.L699F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ATCATCCTGAGATAATGAAGC	0.517													G|||	0	0	0	0	5008	,	,		18431	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5						G	PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	88	89	88		1990,2095	5.3	0.5	5		88	0,8600		0,0,4300	no	missense,missense	NSUN2	NM_001193455.1,NM_017755.5	22,22	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	664/733,699/768	6600248	1,13005	2203	4300	6503	6653248	SO:0001583	missense	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.2095C>T	5.37:g.6600248G>A	ENSP00000264670:p.Leu699Phe		6653248	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	CCDS3869.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.2	4.613919	0.87359	2.27E-4	0.0	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.67523	-0.27;-0.27;-0.27	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.989	D	0.84727	0.0743	10	0.66056	D	0.02	-29.7662	14.2784	0.66196	0.0739:0.0:0.9261:0.0	.	664;699;699	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	F	699;463;664	ENSP00000264670:L699F;ENSP00000444338:L463F;ENSP00000420957:L664F	ENSP00000264670:L699F	L	-	1	0	NSUN2	6653248	1.000000	0.71417	0.543000	0.28128	0.992000	0.81027	4.670000	0.61583	2.468000	0.83385	0.467000	0.42956	CTC		0.517	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		A	6600248	G	A	6600248	3	1	119	1	0	0	0	0	1	0	0	0	10678	942	33	2	212	2	NSUN2	5	6600248	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09		6600248	174315012	17	6539											
TAS2R1	50834	genome.wustl.edu	37	5	9629459	9629459	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr5:9629459G>C	ENST00000382492.2	-	1	1004	c.686C>G	c.(685-687)tCt>tGt	p.S229C	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	229					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.S229C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGACAGGATAGACAGCAACGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	5											72	79	76					5																	9629459		2203	4300	6503	9682459	SO:0001583	missense	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.686C>G	5.37:g.9629459G>C	ENSP00000371932:p.Ser229Cys		9682459	Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591386	0.46214	.	.	ENSG00000169777	ENST00000382492	T	0.39787	1.06	5.55	5.55	0.83447	.	0.357292	0.26955	N	0.021654	T	0.63129	0.2485	M	0.70842	2.15	0.25327	N	0.989065	D	0.89917	1.0	D	0.79784	0.993	T	0.57195	-0.7853	9	.	.	.	.	14.877	0.70501	0.0:0.0:1.0:0.0	.	229	Q9NYW7	TA2R1_HUMAN	C	229	ENSP00000371932:S229C	.	S	-	2	0	TAS2R1	9682459	0.278000	0.24230	0.980000	0.43619	0.069000	0.16628	1.943000	0.40253	2.894000	0.99253	0.655000	0.94253	TCT		0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			C	9629459	G	C	9629459	3	2	119	1	0	0	0	0	1	0	0	0	15565	942	33	3	217	3	TAS2R1	5	9629459	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	3029211	9629459	171285801	18	6540											
UGT3A2	167127	genome.wustl.edu	37	5	36035970	36035970	+	Missense_Mutation	SNP	C	C	T	rs200458466		TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr5:36035970C>T	ENST00000282507.3	-	7	1503	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	UGT3A2_ENST00000545528.1_Missense_Mutation_p.A166T|UGT3A2_ENST00000513300.1_Missense_Mutation_p.A434T	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	468					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.A468T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGCGTCGCGCCCCCTGTC	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		16335	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5											50	45	46					5																	36035970		2203	4300	6503	36071727	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1402G>A	5.37:g.36035970C>T	ENSP00000282507:p.Ala468Thr		36071727	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574251	0.28092	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.71579	-0.58;-0.58;-0.25	2.74	1.84	0.25277	.	0.364632	0.19685	U	0.108411	T	0.74535	0.3729	M	0.74258	2.255	0.09310	N	1	D;D	0.67145	0.978;0.996	P;P	0.55577	0.74;0.779	T	0.64672	-0.6352	10	0.87932	D	0	.	4.8123	0.13349	0.217:0.6619:0.0:0.1211	.	434;468	E9PFK7;Q3SY77	.;UD3A2_HUMAN	T	468;434;166	ENSP00000282507:A468T;ENSP00000427404:A434T;ENSP00000445367:A166T	ENSP00000282507:A468T	A	-	1	0	UGT3A2	36071727	0.003000	0.15002	0.003000	0.11579	0.000000	0.00434	1.274000	0.33132	0.689000	0.31550	-0.309000	0.09137	GCG		0.632	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		T	36035970	C	T	36035970	3	4	119	1	0	0	0	0	1	0	0	0	16964	768	27	1	173	1	UGT3A2	5	36035970	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09	26406511	36035970	144879290	19	6541											
MEGF10	84466	genome.wustl.edu	37	5	126792970	126792970	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr5:126792970G>C	ENST00000274473.6	+	26	3650	c.3383G>C	c.(3382-3384)aGt>aCt	p.S1128T	MEGF10_ENST00000503335.2_Missense_Mutation_p.S1128T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1128	Necessary for formation of large intracellular vacuoles.|Ser-rich.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.S1128T(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAAGAGGACAGTGGTGGTagc	0.522																																																1	Substitution - Missense(1)	ovary(1)	5											97	81	86					5																	126792970		2203	4300	6503	126820869	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3383G>C	5.37:g.126792970G>C	ENSP00000274473:p.Ser1128Thr		126820869	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.890248	0.00527	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.80214	-1.35;-1.35	6.01	2.93	0.34026	.	0.610454	0.14898	N	0.291971	T	0.57301	0.2044	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40098	-0.9581	10	0.08599	T	0.76	-4.2052	8.1306	0.31024	0.1632:0.2219:0.6149:0.0	.	1128	Q96KG7	MEG10_HUMAN	T	1128	ENSP00000423354:S1128T;ENSP00000274473:S1128T	ENSP00000274473:S1128T	S	+	2	0	MEGF10	126820869	0.989000	0.36119	0.513000	0.27749	0.245000	0.25701	3.807000	0.55591	1.410000	0.46936	0.650000	0.86243	AGT		0.522	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		C	126792970	G	C	126792970	3	2	119	1	0	0	0	0	1	0	0	0	9460	1029	36	3	3477	3	MEGF10	5	126792970	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	90757000	126792970	54122290	20	6542											
PCDHGB6	56100	genome.wustl.edu	37	5	140789113	140789113	+	Silent	SNP	C	C	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr5:140789113C>T	ENST00000520790.1	+	1	1344	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAACGACAACGCCCCAGTTT	0.567																																																0			5											62	68	66					5																	140789113		2125	4242	6367	140769297	SO:0001819	synonymous_variant	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1344C>T	5.37:g.140789113C>T			140769297	Q9Y5C5	Silent	SNP	ENST00000520790.1	37	CCDS54929.1																																																																																				0.567	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		T	140789113	C	T	140789113	2	4	119	1	0	0	0	0	0	0	0	1	11567	535	19	1		1	PCDHGB6	5	140789113	Silent	SNP	C	TCGA-13-1403-01A-01W-0494-09	13996143	140789113	40126147	21	6543											
CDKN1A	1026	genome.wustl.edu	37	6	36652297	36652297	+	Missense_Mutation	SNP	G	G	A	rs201631722		TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr6:36652297G>A	ENST00000405375.1	+	2	654	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	CDKN1A_ENST00000448526.2_Missense_Mutation_p.R174Q|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R140Q|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R140Q	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	140					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.R140Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TCTCAGGGTCGAAAACGGCGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											52	55	54					6																	36652297		2203	4300	6503	36760275	SO:0001583	missense	1026			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.419G>A	6.37:g.36652297G>A	ENSP00000384849:p.Arg140Gln		36760275	Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894284	0.52121	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.08	3.3	0.37823	.	0.500458	0.16993	N	0.191226	T	0.53916	0.1826	L	0.49126	1.545	0.32067	N	0.594873	B;B;B	0.28470	0.213;0.064;0.064	B;B;B	0.16289	0.015;0.006;0.006	T	0.31943	-0.9925	9	.	.	.	-6.1044	7.6268	0.28216	0.1911:0.0:0.8089:0.0	.	174;140;140	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	Q	174;140;140;140	ENSP00000409259:R174Q;ENSP00000244741:R140Q;ENSP00000384849:R140Q;ENSP00000362815:R140Q	.	R	+	2	0	CDKN1A	36760275	0.983000	0.35010	0.827000	0.32855	0.766000	0.43426	1.535000	0.36061	0.724000	0.32296	0.561000	0.74099	CGA		0.582	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		A	36652297	G	A	36652297	3	1	119	1	0	0	0	0	1	0	0	0	3158	1058	37	1	421	1	CDKN1A	6	36652297	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09		36652297	134462770	22	6544											
LRFN2	57497	genome.wustl.edu	37	6	40360302	40360302	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr6:40360302G>C	ENST00000338305.6	-	3	2292	c.1750C>G	c.(1750-1752)Cca>Gca	p.P584A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	584						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P584A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGAGGCGGTGGCTGGGCGCCG	0.697																																																1	Substitution - Missense(1)	ovary(1)	6											15	15	15					6																	40360302		2193	4281	6474	40468280	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1750C>G	6.37:g.40360302G>C	ENSP00000345985:p.Pro584Ala		40468280	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	g	0.052	-1.247246	0.01481	.	.	ENSG00000156564	ENST00000338305	T	0.54071	0.59	4.63	4.63	0.57726	.	0.157029	0.42821	D	0.000646	T	0.07593	0.0191	N	0.00729	-1.24	0.28801	N	0.898779	B	0.22003	0.063	B	0.19666	0.026	T	0.20974	-1.0259	10	0.13108	T	0.6	.	11.4457	0.50123	0.0:0.0:0.8197:0.1803	.	584	Q9ULH4	LRFN2_HUMAN	A	584	ENSP00000345985:P584A	ENSP00000345985:P584A	P	-	1	0	LRFN2	40468280	0.669000	0.27502	0.908000	0.35775	0.045000	0.14185	0.000000	0.12993	2.394000	0.81467	0.461000	0.40582	CCA		0.697	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		C	40360302	G	C	40360302	3	2	119	1	0	0	0	0	1	0	0	0	8938	1203	42	3	623	3	LRFN2	6	40360302	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	3708005	40360302	130754765	23	6545											
C6orf142	90523	genome.wustl.edu	37	6	54122124	54122124	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr6:54122124G>A	ENST00000274897.5	+	12	1449	c.1336G>A	c.(1336-1338)Gct>Act	p.A446T	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Missense_Mutation_p.A278T|MLIP_ENST00000502396.1_Missense_Mutation_p.A981T|MLIP_ENST00000370876.2_Missense_Mutation_p.A222T|MLIP_ENST00000509997.1_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	446						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.A446T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCCAATGGTGGCTATTCCTGA	0.333																																																1	Substitution - Missense(1)	ovary(1)	6											117	115	116					6																	54122124		2203	4300	6503	54230083	SO:0001583	missense	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1336G>A	6.37:g.54122124G>A	ENSP00000274897:p.Ala446Thr		54230083	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277600	0.40294	.	.	ENSG00000146147	ENST00000274897;ENST00000370876;ENST00000502396;ENST00000358276	T;T;T;T	0.28895	2.36;1.59;2.08;1.6	5.63	2.36	0.29203	.	0.159273	0.29861	N	0.011012	T	0.04952	0.0133	N	0.08118	0	0.22050	N	0.999397	B;B;B	0.18166	0.026;0.026;0.003	B;B;B	0.20184	0.028;0.028;0.011	T	0.30475	-0.9977	10	0.44086	T	0.13	-0.5728	5.7624	0.18207	0.374:0.0:0.626:0.0	.	981;222;446	Q5VWP3-3;Q5VWP3-2;Q5VWP3	.;.;MLIP_HUMAN	T	446;222;981;278	ENSP00000274897:A446T;ENSP00000359913:A222T;ENSP00000426290:A981T;ENSP00000351019:A278T	ENSP00000274897:A446T	A	+	1	0	MLIP	54230083	0.979000	0.34478	1.000000	0.80357	0.875000	0.50365	-0.123000	0.10611	0.832000	0.34804	0.591000	0.81541	GCT		0.333	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		A	54122124	G	A	54122124	3	1	119	1	0	0	0	0	1	0	0	0	2333	1203	42	2	1382	2	C6orf142	6	54122124	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	13761822	54122124	116992943	24	6546											
C7orf10	79783	genome.wustl.edu	37	7	40314151	40314151	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr7:40314151C>T	ENST00000335693.4	+	8	660	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	C7orf10_ENST00000401647.2_Intron|C7orf10_ENST00000309930.5_Missense_Mutation_p.L213F	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		213					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.L213F(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TATGACTGATCTTGCCACTGG	0.378																																																1	Substitution - Missense(1)	ovary(1)	7											87	84	85					7																	40314151		1885	4116	6001	40280676	SO:0001583	missense	79783																														ENST00000335693.4:c.637C>T	7.37:g.40314151C>T	ENSP00000338475:p.Leu213Phe		40280676	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620917	0.87460	.	.	ENSG00000175600	ENST00000309930;ENST00000335693	T;T	0.55052	0.54;0.54	5.45	5.45	0.79879	CoA-transferase family III domain (2);	0.000000	0.85682	D	0.000000	T	0.68375	0.2994	L	0.48642	1.525	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.74348	0.983;0.979	T	0.69811	-0.5044	10	0.87932	D	0	-10.8999	19.6593	0.95859	0.0:1.0:0.0:0.0	.	213;176	Q9HAC7;Q9HAC7-2	CG010_HUMAN;.	F	213	ENSP00000312054:L213F;ENSP00000338475:L213F	ENSP00000312054:L213F	L	+	1	0	C7orf10	40280676	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	5.469000	0.66749	2.723000	0.93209	0.655000	0.94253	CTT		0.378	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			T	40314151	C	T	40314151	3	4	119	1	0	0	0	0	1	0	0	0	2376	913	32	2	556	2	C7orf10	7	40314151	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		40314151	118824512	25	6547											
WBSCR17	64409	genome.wustl.edu	37	7	71134989	71134989	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr7:71134989A>C	ENST00000333538.5	+	8	1933	c.1299A>C	c.(1297-1299)gaA>gaC	p.E433D	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	433					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E433D(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATGTCTCCGAAAGAAGAGCAT	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											100	101	101					7																	71134989		2203	4300	6503	70772925	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1299A>C	7.37:g.71134989A>C	ENSP00000329654:p.Glu433Asp		70772925	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	A	9.907	1.208369	0.22205	.	.	ENSG00000185274	ENST00000333538	T	0.29142	1.58	5.0	0.00875	0.14076	.	0.058258	0.64402	D	0.000003	T	0.19366	0.0465	L	0.41710	1.295	0.53005	D	0.999964	B	0.23442	0.085	B	0.21151	0.033	T	0.04870	-1.0921	10	0.33141	T	0.24	.	5.657	0.17648	0.3797:0.172:0.4483:0.0	.	433	Q6IS24	GLTL3_HUMAN	D	433	ENSP00000329654:E433D	ENSP00000329654:E433D	E	+	3	2	WBSCR17	70772925	0.998000	0.40836	0.974000	0.42286	0.167000	0.22549	0.548000	0.23314	-0.011000	0.14247	-0.326000	0.08463	GAA		0.463	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		C	71134989	A	C	71134989	3	2	119	1	0	0	0	0	1	0	0	0	17264	11	1	5	1329	5	WBSCR17	7	71134989	Missense_Mutation	SNP	A	TCGA-13-1403-01A-01W-0494-09	30820838	71134989	88003674	26	6548											
MLL3	58508	genome.wustl.edu	37	7	151860622	151860622	+	Missense_Mutation	SNP	T	T	C	rs536894778	byFrequency	TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr7:151860622T>C	ENST00000262189.6	-	43	10258	c.10040A>G	c.(10039-10041)aAt>aGt	p.N3347S	KMT2C_ENST00000355193.2_Missense_Mutation_p.N3347S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3347	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N3347S(1)									TCTAGGAGGATTGAGGGGCAG	0.512													T|||	2	0.000399361	0	0	5008	,	,		19739	0		0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	7											90	89	89					7																	151860622		2203	4300	6503	151491555	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10040A>G	7.37:g.151860622T>C	ENSP00000262189:p.Asn3347Ser		151491555	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	8.634	0.894309	0.17613	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83419	-1.72;-1.72	5.28	4.11	0.48088	.	0.000000	0.49305	D	0.000147	D	0.85331	0.5672	L	0.57536	1.79	0.80722	D	1	B;D;B	0.54047	0.209;0.964;0.131	B;D;B	0.63381	0.021;0.914;0.05	T	0.81558	-0.0878	10	0.08837	T	0.75	.	11.314	0.49381	0.0:0.0726:0.0:0.9274	.	3347;2408;3347	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	S	3347	ENSP00000262189:N3347S;ENSP00000347325:N3347S	ENSP00000262189:N3347S	N	-	2	0	MLL3	151491555	0.076000	0.21285	0.961000	0.40146	0.769000	0.43574	1.087000	0.30865	1.997000	0.58415	0.533000	0.62120	AAT		0.512	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151860622	T	C	151860622	3	2	119	1	0	0	0	0	1	0	0	0	9622	1493	52	4	4763	4	MLL3	7	151860622	Missense_Mutation	SNP	T	TCGA-13-1403-01A-01W-0494-09	80725633	151860622	7278041	27	6549											
SNTG1	54212	genome.wustl.edu	37	8	51705269	51705269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr8:51705269C>A	ENST00000522124.1	+	19	2095	c.1434C>A	c.(1432-1434)tgC>tgA	p.C478*	SNTG1_ENST00000518864.1_Nonsense_Mutation_p.C478*|SNTG1_ENST00000517473.1_Nonsense_Mutation_p.C441*|SNTG1_ENST00000276467.5_Nonsense_Mutation_p.C441*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	478					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.C478*(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCTTCACTGCATTCATTCCT	0.373																																																1	Substitution - Nonsense(1)	ovary(1)	8											207	202	204					8																	51705269		2203	4300	6503	51867822	SO:0001587	stop_gained	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1434C>A	8.37:g.51705269C>A	ENSP00000429842:p.Cys478*		51867822	Q2M3Q0|Q9NY98	Nonsense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593563	0.96602	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.55	1.74	0.24563	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7539	6.9562	0.24572	0.0:0.5203:0.0:0.4797	.	.	.	.	X	478;478;441;441	.	ENSP00000276467:C441X	C	+	3	2	SNTG1	51867822	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.360000	0.20250	0.713000	0.32060	0.637000	0.83480	TGC		0.373	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			A	51705269	C	A	51705269	4	1	119	1	0	0	0	0	0	1	0	0	14877	718	25	3	1500	3	SNTG1	8	51705269	Nonsense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		51705269	94658753	28	6550											
SGK3	23678	genome.wustl.edu	37	8	67743527	67743527	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr8:67743527G>C	ENST00000396596.1	+	8	720	c.506G>C	c.(505-507)gGa>gCa	p.G169A	SGK3_ENST00000522398.1_Missense_Mutation_p.G169A|SGK3_ENST00000520976.1_Missense_Mutation_p.G169A|SGK3_ENST00000521198.2_Missense_Mutation_p.G169A|SGK3_ENST00000345714.4_Missense_Mutation_p.G169A|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.G169A	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.G102A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAAGTTATTGGAAAAGGCAGC	0.333																																																1	Substitution - Missense(1)	ovary(1)	8											157	163	161					8																	67743527		2203	4300	6503	67906081	SO:0001583	missense	23678				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.506G>C	8.37:g.67743527G>C	ENSP00000379842:p.Gly169Ala		67906081	A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823614	0.90873	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000521960;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.2	5.2	0.72013	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	D	0.92967	0.7762	M	0.89601	3.045	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94297	0.7534	9	0.87932	D	0	.	18.7095	0.91651	0.0:0.0:1.0:0.0	.	169;169	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	A	169;169;169;102;169;169;169;169;51	ENSP00000429022:G169A;ENSP00000430463:G169A;ENSP00000430256:G169A;ENSP00000430691:G169A;ENSP00000379842:G169A;ENSP00000331816:G169A;ENSP00000428529:G51A	ENSP00000262211:G169A	G	+	2	0	SGK3	67906081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.783000	0.99037	2.404000	0.81709	0.563000	0.77884	GGA		0.333	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			C	67743527	G	C	67743527	3	2	119	1	0	0	0	0	1	0	0	0	14215	1174	41	3	532	3	SGK3	8	67743527	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	16038258	67743527	78620495	29	6551											
ITGA8	8516	genome.wustl.edu	37	10	15600155	15600155	+	Missense_Mutation	SNP	C	C	T	rs368464139		TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr10:15600155C>T	ENST00000378076.3	-	26	3037	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	895					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.R895Q(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTAGAGTTTCGCAAAAAGGC	0.478																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	10						C	GLN/ARG	0,4406		0,0,2203	74	72	72		2684	1.2	0	10		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA8	NM_003638.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	895/1064	15600155	1,13005	2203	4300	6503	15640161	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2684G>A	10.37:g.15600155C>T	ENSP00000367316:p.Arg895Gln		15640161	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666292	0.29604	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.47869	0.83	6.06	1.17	0.20885	Integrin alpha-2 (1);	0.799419	0.11376	N	0.570358	T	0.37183	0.0994	L	0.46947	1.48	0.09310	N	1	B;B	0.17038	0.016;0.02	B;B	0.17979	0.012;0.02	T	0.30563	-0.9974	10	0.17369	T	0.5	.	8.8846	0.35396	0.0:0.6376:0.0:0.3624	.	880;895	F5H818;P53708	.;ITA8_HUMAN	Q	895;880	ENSP00000367316:R895Q	ENSP00000367316:R895Q	R	-	2	0	ITGA8	15640161	0.002000	0.14202	0.002000	0.10522	0.535000	0.34838	0.046000	0.14035	-0.028000	0.13850	-0.762000	0.03455	CGA		0.478	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		T	15600155	C	T	15600155	3	4	119	1	0	0	0	0	1	0	0	0	7882	884	31	1	527	1	ITGA8	10	15600155	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		15600155	119934592	30	6552											
STAM	8027	genome.wustl.edu	37	10	17730081	17730081	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr10:17730081A>G	ENST00000377524.3	+	5	568	c.353A>G	c.(352-354)gAa>gGa	p.E118G	STAM_ENST00000540523.1_Missense_Mutation_p.E7G	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	118	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.E118G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGACAGATGAATTTAAGAAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	10											129	133	132					10																	17730081		2203	4300	6503	17770087	SO:0001583	missense	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.353A>G	10.37:g.17730081A>G	ENSP00000366746:p.Glu118Gly		17770087	B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.035495	0.93630	.	.	ENSG00000136738	ENST00000377524;ENST00000445846;ENST00000377500;ENST00000540523	T;T	0.23348	1.91;1.93	5.83	5.83	0.93111	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.092925	0.64402	D	0.000001	T	0.28034	0.0691	L	0.47078	1.49	0.80722	D	1	P	0.49783	0.928	B	0.42282	0.382	T	0.03695	-1.1012	10	0.66056	D	0.02	-27.7838	16.192	0.81996	1.0:0.0:0.0:0.0	.	118	Q92783	STAM1_HUMAN	G	118;68;21;7	ENSP00000366746:E118G;ENSP00000438073:E7G	ENSP00000366721:E21G	E	+	2	0	STAM	17770087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.271000	0.95698	2.229000	0.72834	0.482000	0.46254	GAA		0.358	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		G	17730081	A	G	17730081	3	3	119	1	0	0	0	0	1	0	0	0	15250	246	9	4	371	4	STAM	10	17730081	Missense_Mutation	SNP	A	TCGA-13-1403-01A-01W-0494-09	2129926	17730081	117804666	31	6553											
PDE6C	5146	genome.wustl.edu	37	10	95385364	95385369	+	In_Frame_Del	DEL	AGAAGT	AGAAGT	-			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	AGAAGT	AGAAGT	AGAAGT	-	AGAAGT	AGAAGT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr10:95385364_95385369delAGAAGT	ENST00000371447.3	+	5	1035_1040	c.897_902delAGAAGT	c.(895-903)ggagaagta>gga	p.EV300del		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	300	GAF 2.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TCAAGCTTGGAGAAGTAGAGCCTTAT	0.417																																																1	Deletion - In frame(1)	ovary(1)	10																																								95375359	SO:0001651	inframe_deletion	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.897_902delAGAAGT	10.37:g.95385364_95385369delAGAAGT	ENSP00000360502:p.Glu300_Val301del		95375354	A6NCR6|Q5VY29	In_Frame_Del	DEL	ENST00000371447.3	37	CCDS7429.1																																																																																				0.417	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		-	95385369	AGAAGT	-	95385364	7	5	119	1	0	1	0	1	0	0	0	0	11647	291	11	0	915	0	PDE6C	10	95385364	In_Frame_Del	DEL	AGAAGT	TCGA-13-1403-01A-01W-0494-09	77655283	95385364	40149383	32	6554											
ADAM12	8038	genome.wustl.edu	37	10	127843850	127843850	+	Silent	SNP	C	C	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr10:127843850C>T	ENST00000368679.4	-	4	594	c.285G>A	c.(283-285)acG>acA	p.T95T	ADAM12_ENST00000368676.4_Silent_p.T95T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	95					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.T95T(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AGTGGGTTTCCGTGAAACTGC	0.438																																																1	Substitution - coding silent(1)	ovary(1)	10											154	146	148					10																	127843850		2203	4300	6503	127833840	SO:0001819	synonymous_variant	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.285G>A	10.37:g.127843850C>T			127833840	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	CCDS7653.1																																																																																				0.438	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			T	127843850	C	T	127843850	2	4	119	1	0	0	0	0	0	0	0	1	236	639	23	1		1	ADAM12	10	127843850	Silent	SNP	C	TCGA-13-1403-01A-01W-0494-09	32458486	127843850	7690897	33	6555											
OR4D11	219986	genome.wustl.edu	37	11	59271585	59271585	+	Silent	SNP	C	C	T	rs374819635		TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr11:59271585C>T	ENST00000313253.1	+	1	537	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179C(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTTTCTACTGCGATGTCCCCC	0.507																																																1	Substitution - coding silent(1)	ovary(1)	11						T		1,4401	2.1+/-5.4	0,1,2200	259	234	242		537	-8.3	0.2	11		242	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	OR4D11	NM_001004706.1		0,3,6493	TT,TC,CC		0.0233,0.0227,0.0231		179/312	59271585	3,12989	2201	4295	6496	59028161	SO:0001819	synonymous_variant	219986			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.537C>T	11.37:g.59271585C>T			59028161		Silent	SNP	ENST00000313253.1	37	CCDS31563.1																																																																																				0.507	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		T	59271585	C	T	59271585	2	4	119	1	0	0	0	0	0	0	0	1	11055	776	27	1		1	OR4D11	11	59271585	Silent	SNP	C	TCGA-13-1403-01A-01W-0494-09		59271585	75734931	34	6556											
P2RY2	5029	genome.wustl.edu	37	11	72945583	72945583	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr11:72945583A>T	ENST00000311131.2	+	3	846	c.379A>T	c.(379-381)Atc>Ttc	p.I127F	P2RY2_ENST00000393596.2_Missense_Mutation_p.I127F|P2RY2_ENST00000393597.2_Missense_Mutation_p.I127F	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	127					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.I127F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTCACCTGCATCAGCGTGCA	0.677																																																1	Substitution - Missense(1)	ovary(1)	11											92	87	89					11																	72945583		2200	4293	6493	72623231	SO:0001583	missense	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.379A>T	11.37:g.72945583A>T	ENSP00000310305:p.Ile127Phe		72623231	B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784780	0.90282	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.81247	-1.47;-1.47;-1.47	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94264	0.7505	10	0.87932	D	0	.	14.5447	0.68020	1.0:0.0:0.0:0.0	.	127	P41231	P2RY2_HUMAN	F	127	ENSP00000377222:I127F;ENSP00000310305:I127F;ENSP00000377221:I127F	ENSP00000310305:I127F	I	+	1	0	P2RY2	72623231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.195000	0.77798	2.039000	0.60335	0.533000	0.62120	ATC		0.677	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72945583	A	T	72945583	3	4	119	1	0	0	0	0	1	0	0	0	11352	217	8	5	381	5	P2RY2	11	72945583	Missense_Mutation	SNP	A	TCGA-13-1403-01A-01W-0494-09	13673998	72945583	62060933	35	6557											
ANGPTL5	253935	genome.wustl.edu	37	11	101773368	101773368	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr11:101773368G>A	ENST00000334289.3	-	6	1119	c.524C>T	c.(523-525)tCt>tTt	p.S175F		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	175	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		S -> P (in dbSNP:rs7946238).			extracellular region (GO:0005576)		p.S175F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGGGTAGCTAGATCCTTCTGG	0.338																																																1	Substitution - Missense(1)	ovary(1)	11											118	123	121					11																	101773368		2203	4299	6502	101278578	SO:0001583	missense	253935			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.524C>T	11.37:g.101773368G>A	ENSP00000335255:p.Ser175Phe		101278578	A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675734	0.88445	.	.	ENSG00000187151	ENST00000334289	T	0.77877	-1.13	5.05	5.05	0.67936	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.290389	0.37669	N	0.002000	T	0.80215	0.4582	L	0.46567	1.45	0.47778	D	0.999515	P	0.48016	0.904	P	0.54312	0.748	T	0.75031	-0.3461	10	0.11794	T	0.64	.	18.4269	0.90612	0.0:0.0:1.0:0.0	.	175	Q86XS5	ANGL5_HUMAN	F	175	ENSP00000335255:S175F	ENSP00000335255:S175F	S	-	2	0	ANGPTL5	101278578	1.000000	0.71417	0.958000	0.39756	0.992000	0.81027	5.149000	0.64863	2.339000	0.79563	0.591000	0.81541	TCT		0.338	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		A	101773368	G	A	101773368	3	1	119	1	0	0	0	0	1	0	0	0	617	942	33	2	658	2	ANGPTL5	11	101773368	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	28827785	101773368	33233148	36	6558											
CD163L1	283316	genome.wustl.edu	37	12	7586119	7586119	+	Missense_Mutation	SNP	C	C	T	rs146684411	byFrequency	TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr12:7586119C>T	ENST00000313599.3	-	3	353	c.296G>A	c.(295-297)cGt>cAt	p.R99H	CD163L1_ENST00000396630.1_Missense_Mutation_p.R99H|CD163L1_ENST00000416109.2_Missense_Mutation_p.R99H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	99	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R99H(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478													C|||	4	0.000798722	0.003	0	5008	,	,		-128	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12						C	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	120	95	104		296	-0.6	0	12	dbSNP_134	104	0,8600		0,0,4300	yes	missense	CD163L1	NM_174941.4	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	99/1454	7586119	4,13002	2203	4300	6503	7477386	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.296G>A	12.37:g.7586119C>T	ENSP00000315945:p.Arg99His		7477386	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.330519	0.01298	9.08E-4	0.0	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000543276	T;T;T;T	0.35421	1.31;1.31;1.31;3.48	1.5	-0.628	0.11537	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.179770	0.03610	N	0.234674	T	0.20659	0.0497	N	0.11023	0.085	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17289	-1.0374	10	0.32370	T	0.25	.	6.7663	0.23568	0.0:0.5433:0.0:0.4567	.	99;99	E7EVK4;Q9NR16	.;C163B_HUMAN	H	99;99;99;3	ENSP00000315945:R99H;ENSP00000393474:R99H;ENSP00000379871:R99H;ENSP00000442328:R3H	ENSP00000315945:R99H	R	-	2	0	CD163L1	7477386	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.234000	0.09028	-0.635000	0.05531	-1.478000	0.00992	CGT		0.478	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7586119	C	T	7586119	3	4	119	1	0	0	0	0	1	0	0	0	2968	536	19	1	4133	1	CD163L1	12	7586119	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		7586119	126265776	37	6559											
SLC41A2	84102	genome.wustl.edu	37	12	105321786	105321786	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr12:105321786T>C	ENST00000258538.3	-	1	647	c.520A>G	c.(520-522)Aca>Gca	p.T174A		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	174					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.T91A(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GCTGAAACTGTTCCAAAACCA	0.373																																					Esophageal Squamous(195;176 2919 4272 35572)											1	Substitution - Missense(1)	ovary(1)	12											147	127	134					12																	105321786		2203	4300	6503	103845916	SO:0001583	missense	84102			BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"Solute carriers"	31045	protein-coding gene	gene with protein product		610802	"solute carrier family 41, member 2"				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.520A>G	12.37:g.105321786T>C	ENSP00000258538:p.Thr174Ala		103845916	Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486017	0.84854	.	.	ENSG00000136052	ENST00000258538	T	0.25414	1.8	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	M	0.84219	2.685	0.80722	D	1	D	0.54397	0.966	P	0.48598	0.583	T	0.43261	-0.9402	10	0.08837	T	0.75	-3.0929	16.8061	0.85666	0.0:0.0:0.0:1.0	.	174	Q96JW4	S41A2_HUMAN	A	174	ENSP00000258538:T174A	ENSP00000258538:T174A	T	-	1	0	SLC41A2	103845916	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	7.006000	0.76329	2.367000	0.80283	0.528000	0.53228	ACA		0.373	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		C	105321786	T	C	105321786	3	2	119	1	0	0	0	0	1	0	0	0	14633	1725	60	4	1241	4	SLC41A2	12	105321786	Missense_Mutation	SNP	T	TCGA-13-1403-01A-01W-0494-09	97735667	105321786	28530109	38	6560											
MYCBP2	23077	genome.wustl.edu	37	13	77740565	77740565	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr13:77740565C>G	ENST00000544440.2	-	41	6142	c.6125G>C	c.(6124-6126)gGa>gCa	p.G2042A	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G2042A|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G2080A					MYC binding protein 2, E3 ubiquitin protein ligase									p.G2042A(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAATTTTGGTCCATATCCTGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	13											104	102	102					13																	77740565		2203	4300	6503	76638566	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6125G>C	13.37:g.77740565C>G	ENSP00000444596:p.Gly2042Ala		76638566		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.863729	0.91511	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.26373	1.74;1.74;1.74	5.79	5.79	0.91817	.	0.060874	0.64402	D	0.000003	T	0.16300	0.0392	N	0.08118	0	0.58432	D	0.999997	B	0.31435	0.323	B	0.32624	0.149	T	0.12319	-1.0552	10	0.13470	T	0.59	.	20.0221	0.97508	0.0:1.0:0.0:0.0	.	2042	O75592	MYCB2_HUMAN	A	2042;2080;2042	ENSP00000349892:G2042A;ENSP00000384288:G2080A;ENSP00000444596:G2042A	ENSP00000349892:G2042A	G	-	2	0	MYCBP2	76638566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.637000	0.54324	2.732000	0.93576	0.650000	0.86243	GGA		0.398	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77740565	C	G	77740565	3	3	119	1	0	0	0	0	1	0	0	0	10018	855	30	3	7969	3	MYCBP2	13	77740565	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		77740565	37429313	39	6561											
NDE1	54820	genome.wustl.edu	37	16	15790642	15790642	+	Missense_Mutation	SNP	C	C	A	rs146284370	byFrequency	TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr16:15790642C>A	ENST00000396353.2	+	9	1698	c.872C>A	c.(871-873)tCt>tAt	p.S291Y	NDE1_ENST00000396355.1_Missense_Mutation_p.S291Y|NDE1_ENST00000396354.1_Missense_Mutation_p.S291Y|NDE1_ENST00000342673.5_Missense_Mutation_p.S291Y			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	291					centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)	p.S291Y(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGCCCAGCCTCTGGGCGGAGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	16											79	79	79					16																	15790642		2197	4300	6497	15698143	SO:0001583	missense	54820			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.872C>A	16.37:g.15790642C>A	ENSP00000379641:p.Ser291Tyr		15698143	Q49AQ2	Missense_Mutation	SNP	ENST00000396353.2	37		.	.	.	.	.	.	.	.	.	.	C	14.76	2.631308	0.46944	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.56	3.59	0.41128	NUDE protein, C-terminal (1);	0.587205	0.18511	N	0.139066	T	0.27594	0.0678	L	0.38838	1.175	0.09310	N	1	B;P	0.40144	0.427;0.704	B;B	0.35240	0.161;0.198	T	0.07481	-1.0770	9	0.59425	D	0.04	-38.296	11.6522	0.51295	0.0:0.8552:0.0:0.1448	.	291;291	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	Y	291	.	ENSP00000345892:S291Y	S	+	2	0	NDE1	15698143	0.003000	0.15002	0.004000	0.12327	0.962000	0.63368	1.652000	0.37313	0.695000	0.31675	0.655000	0.94253	TCT		0.557	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		A	15790642	C	A	15790642	3	1	119	1	0	0	0	0	1	0	0	0	10243	913	32	3	898	3	NDE1	16	15790642	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		15790642	74564111	40	6562											
ABCC1	4363	genome.wustl.edu	37	16	16208679	16208679	+	Missense_Mutation	SNP	C	C	T	rs376107020		TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr16:16208679C>T	ENST00000399410.3	+	23	3311	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	ABCC1_ENST00000345148.5_Missense_Mutation_p.R1046C|ABCC1_ENST00000351154.5_Missense_Mutation_p.R987C|ABCC1_ENST00000399408.2_Missense_Mutation_p.R1056C|ABCC1_ENST00000346370.5_Missense_Mutation_p.R990C|ABCC1_ENST00000349029.5_Missense_Mutation_p.R931C	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1046	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R1046C(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CTTGGCTTCCCGCTGTCTGCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	16						C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4306		0,0,2153	55	57	56		3136,2959,2968,2791,3136	4.3	1	16		56	1,8527		0,1,4263	no	missense,missense,missense,missense,missense	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	180,180,180,180,180	0,1,6416	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1046/1532,987/1473,990/1476,931/1417,1046/1467	16208679	1,12833	2153	4264	6417	16116180	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3136C>T	16.37:g.16208679C>T	ENSP00000382342:p.Arg1046Cys		16116180	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882517	0.33255	0.0	1.17E-4	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.22	4.26	0.50523	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.096043	0.64402	D	0.000001	D	0.95478	0.8531	M	0.87682	2.9	0.53005	D	0.999964	B;D;D;D;D;D	0.89917	0.287;1.0;0.999;1.0;1.0;1.0	B;D;D;P;D;D	0.74023	0.064;0.969;0.944;0.9;0.982;0.969	D	0.95968	0.8967	10	0.87932	D	0	-15.0622	14.2793	0.66200	0.1497:0.8503:0.0:0.0	.	931;1046;990;987;1046;1056	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	C	1046;1056;990;987;1046;931;730	ENSP00000382342:R1046C;ENSP00000382340:R1056C;ENSP00000263019:R990C;ENSP00000263017:R987C;ENSP00000263014:R1046C;ENSP00000263016:R931C	ENSP00000263014:R1046C	R	+	1	0	ABCC1	16116180	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	3.909000	0.56363	1.186000	0.42985	0.561000	0.74099	CGC		0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		T	16208679	C	T	16208679	3	4	119	1	0	0	0	0	1	0	0	0	49	652	23	1	3226	1	ABCC1	16	16208679	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09	418037	16208679	74146074	41	6563											
TP53	7157	genome.wustl.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr17:7579311C>A	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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"	38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	17	GRCh37	CS951538	TP53	S							66	61	63					17																	7579311		2203	4300	6503	7520036	SO:0001630	splice_region_variant	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.375+1G>T	17.37:g.7579311C>A			7520036	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954926	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7579311	C	A	7579311	5	1	119	1	0	0	0	0	0	0	1	0	16381	521	18	3	926	3	TP53	17	7579311	Splice_Site	SNP	C	TCGA-13-1403-01A-01W-0494-09		7579311	73615899	42	6564											
LAIR1	3903	genome.wustl.edu	37	19	54867979	54867979	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr19:54867979C>G	ENST00000391742.2	-	7	764	c.612G>C	c.(610-612)caG>caC	p.Q204H	LAIR1_ENST00000391743.3_Missense_Mutation_p.Q186H|LAIR1_ENST00000348231.4_Missense_Mutation_p.Q187H|LAIR1_ENST00000313038.6_Missense_Mutation_p.Q197H|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Missense_Mutation_p.Q203H|LAIR1_ENST00000474878.1_Missense_Mutation_p.Q186H			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	204					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q204H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GCTGTGGCTTCTGCTCCTCGT	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											70	84	80					19																	54867979		2203	4300	6503	59559791	SO:0001583	missense	3903			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.612G>C	19.37:g.54867979C>G	ENSP00000375622:p.Gln204His		59559791		Missense_Mutation	SNP	ENST00000391742.2	37	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	11.95	1.791765	0.31685	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	T;T;T;T;T;T	0.00515	6.87;6.99;7.01;6.96;6.95;6.96	4.17	1.78	0.24846	.	0.188106	0.26311	N	0.025101	T	0.01029	0.0034	M	0.66939	2.045	0.09310	N	1	D;D;D;P;D;D	0.69078	0.997;0.997;0.995;0.917;0.992;0.991	D;P;P;P;P;P	0.63192	0.912;0.841;0.874;0.62;0.875;0.751	T	0.46665	-0.9175	10	0.72032	D	0.01	.	6.2284	0.20722	0.0:0.749:0.0:0.251	.	204;186;186;203;187;204	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	H	186;204;203;187;197;186	ENSP00000375623:Q186H;ENSP00000375622:Q204H;ENSP00000391003:Q203H;ENSP00000301193:Q187H;ENSP00000319204:Q197H;ENSP00000418998:Q186H	ENSP00000319204:Q197H	Q	-	3	2	LAIR1	59559791	0.000000	0.05858	0.007000	0.13788	0.126000	0.20510	0.589000	0.23939	0.586000	0.29626	0.650000	0.86243	CAG		0.592	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			G	54867979	C	G	54867979	3	3	119	1	0	0	0	0	1	0	0	0	8602	912	32	3	267	3	LAIR1	19	54867979	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		54867979	4261004	43	6565											
DTD1	92675	genome.wustl.edu	37	20	18724892	18724892	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr20:18724892C>G	ENST00000377452.3	+	5	806	c.626C>G	c.(625-627)cCg>cGg	p.P209R		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	209					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.P209R(1)		large_intestine(4)|lung(1)|ovary(2)	7						GAACGGGAGCCGTAGCTCAGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	20											56	48	51					20																	18724892		2203	4300	6503	18672892	SO:0001583	missense	92675			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"chromosome 20 open reading frame 88", "D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.626C>G	20.37:g.18724892C>G	ENSP00000366672:p.Pro209Arg		18672892	A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP	ENST00000377452.3	37	CCDS13138.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989214	0.74589	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.84	5.84	0.93424	.	0.055041	0.64402	D	0.000001	T	0.63177	0.2489	N	0.19112	0.55	0.58432	D	0.999999	D	0.76494	0.999	D	0.65010	0.931	T	0.67209	-0.5728	9	0.87932	D	0	.	17.6372	0.88125	0.0:1.0:0.0:0.0	.	209	Q8TEA8	DTD1_HUMAN	R	209	.	ENSP00000366672:P209R	P	+	2	0	DTD1	18672892	1.000000	0.71417	0.971000	0.41717	0.468000	0.32798	7.122000	0.77169	2.769000	0.95229	0.563000	0.77884	CCG		0.542	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820		G	18724892	C	G	18724892	3	3	119	1	0	0	0	0	1	0	0	0	4786	652	23	3	644	3	DTD1	20	18724892	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		18724892	44300628	44	6566											
FAM83D	81610	genome.wustl.edu	37	20	37580235	37580235	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr20:37580235G>T	ENST00000217429.4	+	4	961	c.920G>T	c.(919-921)gGc>gTc	p.G307V		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	277					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G307V(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTCTGTCTGGCCAAGTGGTT	0.443																																																1	Substitution - Missense(1)	ovary(1)	20											120	116	117					20																	37580235		1953	4136	6089	37013649	SO:0001583	missense	81610			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.920G>T	20.37:g.37580235G>T	ENSP00000217429:p.Gly307Val		37013649	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760579	0.89932	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.51817	0.69	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80578	-0.1320	10	0.87932	D	0	.	19.6732	0.95918	0.0:0.0:1.0:0.0	.	277	Q9H4H8	FA83D_HUMAN	V	307;261	ENSP00000217429:G307V	ENSP00000217429:G307V	G	+	2	0	FAM83D	37013649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.344000	0.97050	2.745000	0.94114	0.655000	0.94253	GGC		0.443	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			T	37580235	G	T	37580235	3	4	119	1	0	0	0	0	1	0	0	0	5636	1203	42	3	934	3	FAM83D	20	37580235	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09	18855343	37580235	25445285	45	6567											
C20orf177	63939	genome.wustl.edu	37	20	58519911	58519911	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr20:58519911C>T	ENST00000358293.3	+	5	1328	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.R305C	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	305								p.R305C(1)									GAAGCTGCAGCGCTGGGATCT	0.488																																																1	Substitution - Missense(1)	ovary(1)	20											48	51	50					20																	58519911		2203	4300	6503	57953306	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.913C>T	20.37:g.58519911C>T	ENSP00000351040:p.Arg305Cys		57953306	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187653	0.57909	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.23754	1.89;1.89	5.44	1.35	0.21983	.	2.596660	0.01316	N	0.010791	T	0.18964	0.0455	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.22452	-1.0216	10	0.49607	T	0.09	0.0666	6.0818	0.19944	0.0:0.6469:0.135:0.2181	.	305	Q9NTX9	CT177_HUMAN	C	305	ENSP00000351040:R305C;ENSP00000354056:R305C	ENSP00000351040:R305C	R	+	1	0	C20orf177	57953306	0.400000	0.25295	0.001000	0.08648	0.037000	0.13140	1.084000	0.30828	0.023000	0.15187	0.655000	0.94253	CGC		0.488	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		T	58519911	C	T	58519911	3	4	119	1	0	0	0	0	1	0	0	0	2096	768	27	1	915	1	C20orf177	20	58519911	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09	20939676	58519911	4505609	46	6568											
KCNE1	3753	genome.wustl.edu	37	21	35821847	35821847	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr21:35821847C>T	ENST00000337385.3	-	3	461	c.86G>A	c.(85-87)gGc>gAc	p.G29D	KCNE1_ENST00000416357.2_Missense_Mutation_p.G29D|KCNE1_ENST00000399286.2_Missense_Mutation_p.G29D|KCNE1_ENST00000399289.3_Missense_Mutation_p.G29D|KCNE1_ENST00000399284.1_Missense_Mutation_p.G29D|KCNE1_ENST00000432085.1_Missense_Mutation_p.G29D	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	29					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)	p.G29D(1)		large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GCGGGCCAGGCCCGACATGTT	0.602																																																1	Substitution - Missense(1)	ovary(1)	21											62	55	57					21																	35821847		2203	4300	6503	34743717	SO:0001583	missense	3753			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"Potassium channels"	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.86G>A	21.37:g.35821847C>T	ENSP00000337255:p.Gly29Asp		34743717	A5H1P2|Q8N709|Q91Z94	Missense_Mutation	SNP	ENST00000337385.3	37	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621776	0.46840	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	3.74	1.88	0.25563	.	0.973928	0.08437	N	0.946032	D	0.90957	0.7157	L	0.57536	1.79	0.09310	N	1	B	0.24768	0.111	B	0.29440	0.102	T	0.82074	-0.0637	10	0.51188	T	0.08	-10.169	6.573	0.22549	0.0:0.7743:0.0:0.2257	.	29	P15382	KCNE1_HUMAN	D	29	ENSP00000382228:G29D;ENSP00000337255:G29D;ENSP00000412498:G29D;ENSP00000382226:G29D;ENSP00000416258:G29D;ENSP00000382225:G29D	ENSP00000337255:G29D	G	-	2	0	KCNE1	34743717	0.170000	0.23016	0.612000	0.29024	0.537000	0.34900	0.173000	0.16724	0.535000	0.28714	0.591000	0.81541	GGC		0.602	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			T	35821847	C	T	35821847	3	4	119	1	0	0	0	0	1	0	0	0	8021	739	26	2	307	2	KCNE1	21	35821847	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09		35821847	12308048	47	6569											
C21orf57	54059	genome.wustl.edu	37	21	47711315	47711315	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr21:47711315T>C	ENST00000329319.3	+	3	676	c.278T>C	c.(277-279)cTa>cCa	p.L93P	YBEY_ENST00000397701.4_Missense_Mutation_p.L93P|YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397691.1_Missense_Mutation_p.L93P|YBEY_ENST00000397694.1_Missense_Mutation_p.L48P	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	93					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L93P(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GACATTTTCCTAGGAGTGGAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	21											97	99	98					21																	47711315		2203	4300	6503	46535743	SO:0001583	missense	54059			AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 57"	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.278T>C	21.37:g.47711315T>C	ENSP00000329614:p.Leu93Pro		46535743	B7WPA9|B7WPF7|D3DSN2	Missense_Mutation	SNP	ENST00000329319.3	37	CCDS33591.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630850	0.67015	.	.	ENSG00000182362	ENST00000397701;ENST00000397694;ENST00000329319;ENST00000397691	.	.	.	5.09	3.93	0.45458	Metalloprotease catalytic domain, predicted (1);	0.000000	0.64402	D	0.000006	D	0.84392	0.5462	M	0.93638	3.44	0.80722	D	1	B;D;D	0.89917	0.412;1.0;1.0	B;D;D	0.81914	0.192;0.995;0.995	D	0.85983	0.1484	9	0.87932	D	0	-16.8431	10.4734	0.44650	0.0:0.078:0.0:0.922	.	48;93;93	P58557-3;P58557;Q8TBC8	.;YBEY_HUMAN;.	P	93;48;93;93	.	ENSP00000329614:L93P	L	+	2	0	YBEY	46535743	1.000000	0.71417	0.941000	0.38009	0.759000	0.43091	6.715000	0.74697	0.764000	0.33197	0.418000	0.28097	CTA		0.403	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207265.1	NM_058181		C	47711315	T	C	47711315	3	2	119	1	0	0	0	0	1	0	0	0	2128	1522	53	4	284	4	C21orf57	21	47711315	Missense_Mutation	SNP	T	TCGA-13-1403-01A-01W-0494-09	11889468	47711315	418580	48	6570											
CSNK1E	1454	genome.wustl.edu	37	22	38696778	38696778	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chr22:38696778G>T	ENST00000396832.1	-	5	776	c.516C>A	c.(514-516)aaC>aaA	p.N172K	CSNK1E_ENST00000413574.2_Missense_Mutation_p.N172K|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Missense_Mutation_p.N172K|CSNK1E_ENST00000400206.2_Missense_Mutation_p.N172K|CSNK1E_ENST00000359867.3_Missense_Mutation_p.N172K|CSNK1E_ENST00000405675.3_Missense_Mutation_p.N172K	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N172K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TGCCGGTCAGGTTCTTGTTTT	0.642																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)											2	Substitution - Missense(2)	ovary(2)	22											137	115	123					22																	38696778		2203	4300	6503	37026724	SO:0001583	missense	1454				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.516C>A	22.37:g.38696778G>T	ENSP00000380044:p.Asn172Lys		37026724		Missense_Mutation	SNP	ENST00000396832.1	37	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.449895|4.449895	0.84101|0.84101	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335|ENST00000451964	T;T;T;T;T;T;T|.	0.06068|.	3.35;3.35;3.35;3.35;3.35;3.35;3.35|.	4.92|4.92	3.91|3.91	0.45181|0.45181	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.236512|.	0.48286|.	D|.	0.000187|.	T|T	0.74176|0.74176	0.3682|0.3682	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	B;D;D|.	0.61080|.	0.152;0.989;0.974|.	B;P;P|.	0.56434|.	0.047;0.798;0.721|.	T|T	0.75156|0.75156	-0.3417|-0.3417	10|5	0.87932|.	D|.	0|.	.|.	11.6452|11.6452	0.51257|0.51257	0.1299:0.0:0.8701:0.0|0.1299:0.0:0.8701:0.0	.|.	172;172;172|.	B0QY35;B0QY34;P49674|.	.;.;KC1E_HUMAN|.	K|N	172|110	ENSP00000352929:N172K;ENSP00000380044:N172K;ENSP00000383067:N172K;ENSP00000384074:N172K;ENSP00000407235:N172K;ENSP00000384426:N172K;ENSP00000412335:N172K|.	ENSP00000352929:N172K|.	N|T	-|-	3|2	2|0	CSNK1E|CSNK1E	37026724|37026724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	3.053000|3.053000	0.49901|0.49901	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	AAC|ACC		0.642	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		T	38696778	G	T	38696778	3	4	119	1	0	0	0	0	1	0	0	0	3953	1252	44	3	758	3	CSNK1E	22	38696778	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09		38696778	12607788	49	6571											
GLRA2	2742	genome.wustl.edu	37	X	14627259	14627259	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chrX:14627259G>A	ENST00000218075.4	+	7	1392	c.862G>A	c.(862-864)Gca>Aca	p.A288T	GLRA2_ENST00000355020.4_Missense_Mutation_p.A288T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A199T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	288					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.A288T(1)|p.A288S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TGCCAGGGTCGCACTGGGCAT	0.468																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	X											84	83	84					X																	14627259		2203	4300	6503	14537180	SO:0001583	missense	2742				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.862G>A	X.37:g.14627259G>A	ENSP00000218075:p.Ala288Thr		14537180	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682558	0.88542	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.84516	-1.86;-1.86;-1.86	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	L	0.33792	1.035	0.80722	D	1	P;D;P	0.56035	0.839;0.974;0.916	B;P;P	0.49799	0.327;0.55;0.622	D	0.86883	0.2043	10	0.87932	D	0	.	18.3146	0.90215	0.0:0.0:1.0:0.0	.	272;288;288	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	199;288;288	ENSP00000387756:A199T;ENSP00000218075:A288T;ENSP00000347123:A288T	ENSP00000218075:A288T	A	+	1	0	GLRA2	14537180	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	9.771000	0.98977	2.264000	0.75181	0.600000	0.82982	GCA		0.468	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			A	14627259	G	A	14627259	3	1	119	1	0	0	0	0	1	0	0	0	6455	1087	38	1	960	1	GLRA2	23	14627259	Missense_Mutation	SNP	G	TCGA-13-1403-01A-01W-0494-09		14627259	140643301	50	6572											
POLA1	5422	genome.wustl.edu	37	X	24732734	24732734	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chrX:24732734C>T	ENST00000379059.3	+	5	407	c.392C>T	c.(391-393)cCg>cTg	p.P131L	POLA1_ENST00000379068.3_Missense_Mutation_p.P137L	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	131					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.P131L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GTGACAAAACCGAACAACATT	0.358																																																1	Substitution - Missense(1)	ovary(1)	X											104	93	97					X																	24732734		2202	4298	6500	24642655	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.392C>T	X.37:g.24732734C>T	ENSP00000368349:p.Pro131Leu		24642655	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391039	0.62066	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18174	2.23;2.23	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.45115	0.1326	M	0.78637	2.42	0.80722	D	1	P;D	0.89917	0.617;1.0	B;D	0.74023	0.14;0.982	T	0.20240	-1.0281	10	0.34782	T	0.22	-7.8106	19.2516	0.93926	0.0:1.0:0.0:0.0	.	137;131	A6NMQ1;P09884	.;DPOLA_HUMAN	L	137;131	ENSP00000368358:P137L;ENSP00000368349:P131L	ENSP00000368349:P131L	P	+	2	0	POLA1	24642655	1.000000	0.71417	0.997000	0.53966	0.634000	0.38068	6.872000	0.75536	2.498000	0.84270	0.600000	0.82982	CCG		0.358	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		T	24732734	C	T	24732734	3	4	119	1	0	0	0	0	1	0	0	0	12187	652	23	1	410	1	POLA1	23	24732734	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09	10105475	24732734	130537826	51	6573											
ACTRT1	139741	genome.wustl.edu	37	X	127185238	127185238	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1403-01A-01W-0494-09	TCGA-13-1403-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	acbc77ba-7cc0-4af2-9ab6-0c835ce33998	c73387e8-6cbe-4118-aee3-a27c0ac5b4a5	g.chrX:127185238C>G	ENST00000371124.3	-	1	1144	c.948G>C	c.(946-948)aaG>aaC	p.K316N		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	316						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K316N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTTCCACTTCCTTCATGAGCC	0.493																																																1	Substitution - Missense(1)	ovary(1)	X											129	93	105					X																	127185238		2203	4300	6503	127012919	SO:0001583	missense	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.948G>C	X.37:g.127185238C>G	ENSP00000360165:p.Lys316Asn		127012919	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	4.149	0.025963	0.08054	.	.	ENSG00000123165	ENST00000371124	D	0.94897	-3.55	3.58	-1.81	0.07882	.	0.219866	0.32952	N	0.005457	D	0.92014	0.7470	M	0.69248	2.105	0.32154	N	0.583896	B	0.29481	0.245	B	0.35039	0.194	D	0.87618	0.2508	10	0.87932	D	0	.	9.2817	0.37733	0.0:0.6237:0.0:0.3762	.	316	Q8TDG2	ACTT1_HUMAN	N	316	ENSP00000360165:K316N	ENSP00000360165:K316N	K	-	3	2	ACTRT1	127012919	0.995000	0.38212	0.011000	0.14972	0.018000	0.09664	0.259000	0.18405	-0.436000	0.07254	-0.354000	0.07668	AAG		0.493	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		G	127185238	C	G	127185238	3	3	119	1	0	0	0	0	1	0	0	0	218	680	24	3	186	3	ACTRT1	23	127185238	Missense_Mutation	SNP	C	TCGA-13-1403-01A-01W-0494-09	102452504	127185238	28085322	52	6574											
FAAH	2166	genome.wustl.edu	37	1	46871457	46871457	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr1:46871457A>G	ENST00000243167.8	+	5	860	c.776A>G	c.(775-777)aAc>aGc	p.N259S	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	259					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)	p.N259S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CCCACAGGGAACCGCCTCAGG	0.657																																																1	Substitution - Missense(1)	ovary(1)	1											21	24	23					1																	46871457		2201	4297	6498	46644044	SO:0001583	missense	2166			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.776A>G	1.37:g.46871457A>G	ENSP00000243167:p.Asn259Ser		46644044	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	CCDS535.1	.	.	.	.	.	.	.	.	.	.	A	3.689	-0.063982	0.07273	.	.	ENSG00000117480	ENST00000243167	T	0.62941	-0.01	3.84	1.44	0.22558	Amidase signature domain (2);	0.110340	0.64402	D	0.000008	T	0.38427	0.1040	N	0.21617	0.685	0.23923	N	0.996454	B	0.12013	0.005	B	0.12156	0.007	T	0.11108	-1.0601	10	0.14656	T	0.56	-14.5689	5.0391	0.14449	0.7047:0.0:0.1584:0.1369	.	259	O00519	FAAH1_HUMAN	S	259	ENSP00000243167:N259S	ENSP00000243167:N259S	N	+	2	0	FAAH	46644044	0.974000	0.33945	0.991000	0.47740	0.355000	0.29361	2.566000	0.45948	0.559000	0.29153	0.402000	0.26972	AAC		0.657	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		G	46871457	A	G	46871457	3	3	120	1	0	0	0	0	1	0	0	0	5353	43	2	4	794	4	FAAH	1	46871457	Missense_Mutation	SNP	A	TCGA-13-1404-01A-01W-0494-09		46871457	202379164	1	6575											
C1orf59	113802	genome.wustl.edu	37	1	109200122	109200122	+	Missense_Mutation	SNP	T	T	A	rs11540221		TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr1:109200122T>A	ENST00000370032.5	-	3	521	c.101A>T	c.(100-102)cAg>cTg	p.Q34L	HENMT1_ENST00000402983.1_Missense_Mutation_p.Q34L|HENMT1_ENST00000370031.1_Missense_Mutation_p.Q34L|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	34					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.Q34L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CTGGTACCGCTGTCTGTATAG	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											117	116	116					1																	109200122		2203	4300	6503	109001645	SO:0001583	missense	113802				CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"HEN1 methyltransferase homolog (Arabidopsis)"	612178	"chromosome 1 open reading frame 59"	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.101A>T	1.37:g.109200122T>A	ENSP00000359049:p.Gln34Leu		109001645	A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	CCDS787.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409949	0.62399	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.62	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52335	-0.8589	10	0.52906	T	0.07	.	9.2622	0.37619	0.0:0.0833:0.0:0.9167	rs11540221;rs11540221	34	Q5T8I9	HENMT_HUMAN	L	34	ENSP00000385655:Q34L;ENSP00000359048:Q34L;ENSP00000359049:Q34L;ENSP00000403953:Q34L	ENSP00000359048:Q34L	Q	-	2	0	HENMT1	109001645	1.000000	0.71417	0.975000	0.42487	0.358000	0.29455	5.387000	0.66243	0.959000	0.37980	0.533000	0.62120	CAG		0.378	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		A	109200122	T	A	109200122	3	1	120	1	0	0	0	0	1	0	0	0	2051	1580	55	5	1104	5	C1orf59	1	109200122	Missense_Mutation	SNP	T	TCGA-13-1404-01A-01W-0494-09	62328665	109200122	140050499	2	6576											
HIPK1	204851	genome.wustl.edu	37	1	114483621	114483621	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr1:114483621A>G	ENST00000369558.1	+	2	848	c.616A>G	c.(616-618)Aag>Gag	p.K206E	HIPK1_ENST00000369559.4_Missense_Mutation_p.K206E|HIPK1_ENST00000369554.2_Missense_Mutation_p.K206E|HIPK1_ENST00000369555.2_Missense_Mutation_p.K206E|HIPK1_ENST00000426820.2_Missense_Mutation_p.K206E|HIPK1_ENST00000369561.4_Missense_Mutation_p.K206E			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K206E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGGTGGCTAAGTGCTGGAA	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											74	78	76					1																	114483621		2203	4300	6503	114285144	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.616A>G	1.37:g.114483621A>G	ENSP00000358571:p.Lys206Glu		114285144	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341488	0.81911	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.63	5.63	0.86233	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	0.64402	D	0.000002	T	0.37100	0.0991	L	0.50919	1.6	0.80722	D	1	D;D	0.69078	0.997;0.974	D;D	0.77004	0.989;0.969	T	0.24048	-1.0171	10	0.87932	D	0	.	15.8458	0.78887	1.0:0.0:0.0:0.0	.	206;206	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	E	277;206;206;206;206;206;206	ENSP00000407442:K277E;ENSP00000358572:K206E;ENSP00000409673:K206E;ENSP00000358567:K206E;ENSP00000358568:K206E;ENSP00000358571:K206E;ENSP00000358574:K206E	ENSP00000358567:K206E	K	+	1	0	HIPK1	114285144	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.249000	0.95470	2.141000	0.66446	0.455000	0.32223	AAG		0.488	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		G	114483621	A	G	114483621	3	3	120	1	0	0	0	0	1	0	0	0	7116	363	13	4	618	4	HIPK1	1	114483621	Missense_Mutation	SNP	A	TCGA-13-1404-01A-01W-0494-09	5283499	114483621	134767000	3	6577											
VHLL	391104	genome.wustl.edu	37	1	156268743	156268743	+	Missense_Mutation	SNP	A	A	C	rs377259322		TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr1:156268743A>C	ENST00000339922.3	-	1	685	c.238T>G	c.(238-240)Tac>Gac	p.Y80D		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	80	Beta-domain.							p.Y80D(1)		endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					AGCGTCAGGTAGGGCAGCAGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											88	79	82					1																	156268743		2203	4300	6503	154535367	SO:0001583	missense	391104					1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"VHL pseudogene"	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.238T>G	1.37:g.156268743A>C	ENSP00000464258:p.Tyr80Asp		154535367	A1L4M4	Missense_Mutation	SNP	ENST00000339922.3	37																																																																																					0.557	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		C	156268743	A	C	156268743	3	2	120	1	0	0	0	0	1	0	0	0	17163	420	15	5	185	5	VHLL	1	156268743	Missense_Mutation	SNP	A	TCGA-13-1404-01A-01W-0494-09	41785122	156268743	92981878	4	6578											
NUF2	83540	genome.wustl.edu	37	1	163318801	163318801	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr1:163318801A>T	ENST00000271452.3	+	13	1470	c.1191A>T	c.(1189-1191)gaA>gaT	p.E397D	NUF2_ENST00000524800.1_Missense_Mutation_p.E350D|NUF2_ENST00000367900.3_Missense_Mutation_p.E397D	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	397	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E397D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTAATCAAGAAATCCAAAAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	1											63	66	65					1																	163318801		2203	4299	6502	161585425	SO:0001583	missense	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1191A>T	1.37:g.163318801A>T	ENSP00000271452:p.Glu397Asp		161585425	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351351	0.41700	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.36699	1.24;1.32;1.32	5.5	0.496	0.16896	.	0.146062	0.64402	N	0.000010	T	0.06826	0.0174	N	0.14661	0.345	0.45946	D	0.998773	B;B	0.17667	0.009;0.023	B;B	0.12837	0.005;0.008	T	0.19063	-1.0317	9	0.45353	T	0.12	-15.5281	5.3042	0.15795	0.6285:0.14:0.2316:0.0	.	350;397	E9PQC4;Q9BZD4	.;NUF2_HUMAN	D	350;397;397	ENSP00000436888:E350D;ENSP00000356875:E397D;ENSP00000271452:E397D	ENSP00000271452:E397D	E	+	3	2	NUF2	161585425	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	0.495000	0.22483	0.161000	0.19458	0.533000	0.62120	GAA		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		T	163318801	A	T	163318801	3	4	120	1	0	0	0	0	1	0	0	0	10747	11	1	5	1237	5	NUF2	1	163318801	Missense_Mutation	SNP	A	TCGA-13-1404-01A-01W-0494-09	7050058	163318801	85931820	5	6579											
SRGAP2	23380	genome.wustl.edu	37	1	206567008	206567008	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr1:206567008A>G	ENST00000414007.1	+	3	389	c.389A>G	c.(388-390)cAt>cGt	p.H130R	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	270	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TACTACATCCATGACCTATCT	0.468																																																0			1											84	76	78					1																	206567008		1956	4156	6112	204633631	SO:0001583	missense	23380			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.389A>G	1.37:g.206567008A>G	ENSP00000390898:p.His130Arg		204633631		Missense_Mutation	SNP	ENST00000414007.1	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.290497	0.80914	.	.	ENSG00000163486	ENST00000414359;ENST00000414007	T	0.13089	2.62	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	.	.	.	0.80722	D	1.000000	D;B;B	0.67145	0.996;0.024;0.242	P;B;B	0.56788	0.806;0.05;0.073	T	0.19192	-1.0313	8	0.46703	T	0.11	.	16.0258	0.80545	1.0:0.0:0.0:0.0	.	117;270;270	B4DDU0;O75044;B7Z3G4	.;FNBP2_HUMAN;.	R	184;130	ENSP00000390898:H130R	ENSP00000390898:H130R	H	+	2	0	SRGAP2	204633631	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.335000	0.96500	2.184000	0.69523	0.454000	0.30748	CAT		0.468	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		G	206567008	A	G	206567008	3	3	120	1	0	0	0	0	1	0	0	0	15148	217	8	4	563	4	SRGAP2	1	206567008	Missense_Mutation	SNP	A	TCGA-13-1404-01A-01W-0494-09	43248207	206567008	42683613	6	6580											
TPO	7173	genome.wustl.edu	37	2	1507833	1507833	+	Missense_Mutation	SNP	G	G	A	rs368163933		TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr2:1507833G>A	ENST00000345913.4	+	14	2591	c.2500G>A	c.(2500-2502)Gat>Aat	p.D834N	TPO_ENST00000349624.3_Missense_Mutation_p.D661N|TPO_ENST00000346956.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.D834N|TPO_ENST00000382201.3_Missense_Mutation_p.D777N|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.D661N|TPO_ENST00000337415.3_Missense_Mutation_p.D834N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	834	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.D834N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTTAGGAGACGATGGGAGAAC	0.557																																																1	Substitution - Missense(1)	ovary(1)	2						G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	89	82	85		2500,2500,2329,2329,,1981	4.4	0.1	2		85	0,8600		0,0,4300	no	missense,missense,missense,missense,intron,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	23,23,23,23,,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	834/934,834/934,777/877,777/877,,661/761	1507833	1,13005	2203	4300	6503	1486840	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2500G>A	2.37:g.1507833G>A	ENSP00000318820:p.Asp834Asn		1486840	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125039	0.56721	2.27E-4	0.0	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000425083	D;D;D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	4.4	4.4	0.53042	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.947276	0.08690	N	0.908037	D	0.96965	0.9009	L	0.31526	0.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94646	0.7835	10	0.87932	D	0	-29.9493	16.5588	0.84534	0.0:0.0:1.0:0.0	.	661;777;834	P07202-5;P07202-2;P07202	.;.;PERT_HUMAN	N	834;834;661;834;777;661;55	ENSP00000337263:D834N;ENSP00000318820:D834N;ENSP00000332044:D661N;ENSP00000329869:D834N;ENSP00000371636:D777N;ENSP00000371633:D661N;ENSP00000389659:D55N	ENSP00000329869:D834N	D	+	1	0	TPO	1486840	1.000000	0.71417	0.052000	0.19188	0.234000	0.25298	6.018000	0.70811	2.012000	0.59069	0.297000	0.19635	GAT		0.557	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1507833	G	A	1507833	3	1	120	1	0	0	0	0	1	0	0	0	16410	1058	37	1	2550	1	TPO	2	1507833	Missense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09		1507833	241691540	7	6581											
SFTPB	6439	genome.wustl.edu	37	2	85892796	85892796	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr2:85892796A>C	ENST00000519937.2	-	5	534	c.515T>G	c.(514-516)cTg>cGg	p.L172R	SFTPB_ENST00000393822.3_Missense_Mutation_p.L184R|SFTPB_ENST00000342375.3_Missense_Mutation_p.L172R|SFTPB_ENST00000409383.1_Missense_Mutation_p.L184R			P07988	PSPB_HUMAN	surfactant protein B	172					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.L172R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CTTGTCCAGCAGAGGGTCTGG	0.677																																																1	Substitution - Missense(1)	ovary(1)	2											51	54	53					2																	85892796		2203	4300	6503	85746307	SO:0001583	missense	6439			J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.515T>G	2.37:g.85892796A>C	ENSP00000428719:p.Leu172Arg		85746307	Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37		.	.	.	.	.	.	.	.	.	.	a	16.28	3.077497	0.55753	.	.	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	T;T;T;T	0.70282	0.57;-0.29;-0.47;-0.29	4.84	4.84	0.62591	.	0.000000	0.33650	N	0.004694	T	0.76256	0.3962	M	0.73962	2.25	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.53861	0.736;0.736	T	0.67898	-0.5551	10	0.25751	T	0.34	-13.6503	10.8414	0.46718	1.0:0.0:0.0:0.0	.	184;172	D6W5L6;P07988	.;PSPB_HUMAN	R	174;184;172;184;140	ENSP00000428719:L174R;ENSP00000377409:L184R;ENSP00000345161:L172R;ENSP00000386346:L184R	ENSP00000345161:L172R	L	-	2	0	SFTPB	85746307	0.471000	0.25862	0.061000	0.19648	0.011000	0.07611	3.087000	0.50167	1.820000	0.53075	0.454000	0.30748	CTG		0.677	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		C	85892796	A	C	85892796	3	2	120	1	0	0	0	0	1	0	0	0	14194	188	7	5	654	5	SFTPB	2	85892796	Missense_Mutation	SNP	A	TCGA-13-1404-01A-01W-0494-09	84384963	85892796	157306577	8	6582											
TTC21B	79809	genome.wustl.edu	37	2	166770099	166770099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr2:166770099G>T	ENST00000243344.7	-	16	2333	c.2196C>A	c.(2194-2196)taC>taA	p.Y732*		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	732					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.Y732*(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GAATATTCATGTATGCATCAC	0.318																																																1	Substitution - Nonsense(1)	ovary(1)	2											92	93	93					2																	166770099		2203	4300	6503	166478345	SO:0001587	stop_gained	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2196C>A	2.37:g.166770099G>T	ENSP00000243344:p.Tyr732*		166478345	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Nonsense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	G	40	7.967002	0.98585	.	.	ENSG00000123607	ENST00000243344	.	.	.	5.23	3.43	0.39272	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8732	9.6457	0.39865	0.2843:0.0:0.7157:0.0	.	.	.	.	X	732	.	ENSP00000243344:Y732X	Y	-	3	2	TTC21B	166478345	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.071000	0.30666	0.595000	0.29777	0.591000	0.81541	TAC		0.318	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		T	166770099	G	T	166770099	4	4	120	1	0	0	0	0	0	1	0	0	16688	1372	48	3	1810	3	TTC21B	2	166770099	Nonsense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09	80877303	166770099	76429274	9	6583											
METTL8	79828	genome.wustl.edu	37	2	172195912	172195914	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	ATG	ATG	ATG	-	ATG	ATG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr2:172195912_172195914delATG	ENST00000375258.4	-	4	601_603	c.386_388delCAT	c.(385-390)tcatgg>tgg	p.S129del		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	129						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.S79del(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						ACATGATCCCATGATGATTCTCT	0.369																																																1	Deletion - In frame(1)	ovary(1)	2																																								171904160	SO:0001651	inframe_deletion	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"tension-induced/inhibited protein"	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.386_388delCAT	2.37:g.172195915_172195917delATG	ENSP00000364407:p.Ser129del		171904158	Q53TM9|Q53TQ0	In_Frame_Del	DEL	ENST00000375258.4	37																																																																																					0.369	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770		-	172195914	ATG	-	172195912	7	5	120	1	0	1	0	1	0	0	0	0	9507	217	8	0	863	0	METTL8	2	172195912	In_Frame_Del	DEL	ATG	TCGA-13-1404-01A-01W-0494-09	5425813	172195912	71003461	10	6584											
TTN	7273	genome.wustl.edu	37	2	179643657	179643657	+	Silent	SNP	A	A	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr2:179643657A>G	ENST00000591111.1	-	24	4376	c.4152T>C	c.(4150-4152)gcT>gcC	p.A1384A	TTN_ENST00000359218.5_Silent_p.A1338A|TTN_ENST00000460472.2_Silent_p.A1338A|TTN_ENST00000589042.1_Silent_p.A1384A|TTN_ENST00000360870.5_Silent_p.A1384A|TTN_ENST00000342175.6_Silent_p.A1338A|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.A1384A			Q8WZ42	TITIN_HUMAN	titin	33580					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A1384A(2)|p.A1338A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTGGTGCAGCAGGCTCCA	0.403																																																3	Substitution - coding silent(3)	ovary(3)	2											82	76	78					2																	179643657		2203	4300	6503	179351902	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4152T>C	2.37:g.179643657A>G			179351902	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179643657	A	G	179643657	2	3	120	1	0	0	0	0	0	0	0	1	16735	175	7	4		4	TTN	2	179643657	Silent	SNP	A	TCGA-13-1404-01A-01W-0494-09	7447745	179643657	63555716	11	6585											
DNAH7	56171	genome.wustl.edu	37	2	196749490	196749490	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr2:196749490C>A	ENST00000312428.6	-	35	5682	c.5582G>T	c.(5581-5583)tGt>tTt	p.C1861F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1861					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.C1861F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCATCTGTACAAGAAGCACC	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											80	72	74					2																	196749490		1851	4097	5948	196457735	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5582G>T	2.37:g.196749490C>A	ENSP00000311273:p.Cys1861Phe		196457735	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481108	0.63849	.	.	ENSG00000118997	ENST00000312428	T	0.19669	2.13	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.87180	2.865	0.80722	D	1	B	0.30763	0.294	B	0.31495	0.131	T	0.32929	-0.9888	10	0.62326	D	0.03	.	19.8649	0.96801	0.0:1.0:0.0:0.0	.	1861	Q8WXX0	DYH7_HUMAN	F	1861	ENSP00000311273:C1861F	ENSP00000311273:C1861F	C	-	2	0	DNAH7	196457735	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.754000	0.74909	2.854000	0.98071	0.655000	0.94253	TGT		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		A	196749490	C	A	196749490	3	1	120	1	0	0	0	0	1	0	0	0	4606	478	17	3	6616	3	DNAH7	2	196749490	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09	17105833	196749490	46449883	12	6586											
FGD5	152273	genome.wustl.edu	37	3	14960261	14960261	+	Splice_Site	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr3:14960261G>A	ENST00000285046.5	+	13	3600	c.3490G>A	c.(3490-3492)Gtc>Atc	p.V1164I	FGD5_ENST00000543601.1_Splice_Site_p.V923I|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1164	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.V923I(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGTTTTCCAGGTCAGCCGCCC	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											77	77	77					3																	14960261		1992	4164	6156	14935265	SO:0001630	splice_region_variant	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3490-1G>A	3.37:g.14960261G>A			14935265	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218184	0.79464	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.75704	-0.96;-0.96	3.86	3.86	0.44501	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.45361	D	0.000374	T	0.77136	0.4086	M	0.64997	1.995	0.80722	D	1	P;P	0.51147	0.942;0.942	P;P	0.51415	0.669;0.669	T	0.77723	-0.2481	9	.	.	.	-31.0389	12.6537	0.56776	0.0:0.0:1.0:0.0	.	923;1164	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	1164;923	ENSP00000285046:V1164I;ENSP00000445949:V923I	.	V	+	1	0	FGD5	14935265	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.804000	0.75186	1.988000	0.58038	0.591000	0.81541	GTC		0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	Missense_Mutation	A	14960261	G	A	14960261	5	1	120	1	0	0	0	0	0	0	1	0	5836	1275	44	2	3540	2	FGD5	3	14960261	Splice_Site	SNP	G	TCGA-13-1404-01A-01W-0494-09		14960261	183062169	13	6587											
SETD2	29072	genome.wustl.edu	37	3	47139491	47139491	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr3:47139491G>A	ENST00000409792.3	-	9	5138	c.5096C>T	c.(5095-5097)gCa>gTa	p.A1699V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1699					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.A1699V(1)|p.A1196V(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCCTCCTGCTGCTCTGATGCT	0.413			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	ovary(2)	3											115	101	106					3																	47139491		2203	4300	6503	47114495	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5096C>T	3.37:g.47139491G>A	ENSP00000386759:p.Ala1699Val		47114495	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	35	5.581620	0.96565	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.90133	-2.62	5.29	5.29	0.74685	.	0.000000	0.52532	D	0.000065	D	0.94424	0.8206	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	D	0.94351	0.7579	10	0.62326	D	0.03	.	19.1238	0.93374	0.0:0.0:1.0:0.0	.	1699;1699	F2Z317;Q9BYW2	.;SETD2_HUMAN	V	1699	ENSP00000386759:A1699V	ENSP00000386759:A1699V	A	-	2	0	SETD2	47114495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.629000	0.98417	2.752000	0.94435	0.557000	0.71058	GCA		0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47139491	G	A	47139491	3	1	120	1	0	0	0	0	1	0	0	0	14134	1319	46	2	2650	2	SETD2	3	47139491	Missense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09	32179230	47139491	150882939	14	6588											
POLQ	10721	genome.wustl.edu	37	3	121186369	121186369	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr3:121186369G>C	ENST00000264233.5	-	24	7092	c.6964C>G	c.(6964-6966)Cca>Gca	p.P2322A		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2322					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.P2457A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACCTTACCTGGGAAAGGCACA	0.453								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - Missense(1)	ovary(1)	3											156	139	144					3																	121186369		2203	4300	6503	122669059	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6964C>G	3.37:g.121186369G>C	ENSP00000264233:p.Pro2322Ala		122669059	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294494	0.40594	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96830	-4.14	5.8	2.04	0.26737	DNA-directed DNA polymerase, family A, palm domain (2);	0.314716	0.36200	N	0.002724	D	0.92740	0.7692	L	0.44542	1.39	0.33140	D	0.544261	P;B	0.38617	0.64;0.447	B;B	0.39379	0.298;0.156	D	0.90851	0.4731	10	0.56958	D	0.05	.	7.2445	0.26114	0.1924:0.0:0.687:0.1206	.	2322;1494	O75417;O75417-2	DPOLQ_HUMAN;.	A	1945;2322;2458	ENSP00000264233:P2322A	ENSP00000264233:P2322A	P	-	1	0	POLQ	122669059	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.019000	0.41001	0.096000	0.17463	0.591000	0.81541	CCA		0.453	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		C	121186369	G	C	121186369	3	2	120	1	0	0	0	0	1	0	0	0	12208	1232	43	3	836	3	POLQ	3	121186369	Missense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09	74046878	121186369	76836061	15	6589											
VEPH1	79674	genome.wustl.edu	37	3	157131725	157131725	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr3:157131725G>A	ENST00000362010.2	-	6	1158	c.851C>T	c.(850-852)cCc>cTc	p.P284L	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Missense_Mutation_p.P284L|VEPH1_ENST00000543418.1_Missense_Mutation_p.P284L|VEPH1_ENST00000392833.2_Missense_Mutation_p.P284L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	284						plasma membrane (GO:0005886)		p.P284L(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGTGAGGTAGGGGAATCTCTC	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											162	168	166					3																	157131725		2203	4300	6503	158614419	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.851C>T	3.37:g.157131725G>A	ENSP00000354919:p.Pro284Leu		158614419	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538031	0.85917	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.8	5.8	0.92144	.	0.212086	0.50627	D	0.000110	T	0.57725	0.2073	M	0.71036	2.16	0.80722	D	1	D;D	0.69078	0.997;0.986	P;P	0.59357	0.856;0.722	T	0.59867	-0.7373	10	0.87932	D	0	-2.7714	18.2522	0.90007	0.0:0.0:1.0:0.0	.	284;284	Q14D04-2;Q14D04	.;MELT_HUMAN	L	284	ENSP00000376578:P284L;ENSP00000354919:P284L;ENSP00000446258:P284L;ENSP00000376577:P284L	ENSP00000354919:P284L	P	-	2	0	VEPH1	158614419	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.639000	0.74314	2.741000	0.93983	0.585000	0.79938	CCC		0.443	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		A	157131725	G	A	157131725	3	1	120	1	0	0	0	0	1	0	0	0	17154	1232	43	2	1686	2	VEPH1	3	157131725	Missense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09	35945356	157131725	40890705	16	6590											
ETF1	2107	genome.wustl.edu	37	5	137853274	137853274	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr5:137853274C>G	ENST00000360541.5	-	4	599	c.378G>C	c.(376-378)ttG>ttC	p.L126F	ETF1_ENST00000503014.1_Missense_Mutation_p.L112F|ETF1_ENST00000514005.1_5'UTR|ETF1_ENST00000499810.2_Missense_Mutation_p.L93F	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	126					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.L126F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTTGTCACACAAATACAATG	0.388																																																1	Substitution - Missense(1)	ovary(1)	5											124	115	118					5																	137853274		2203	4300	6503	137881173	SO:0001583	missense	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.378G>C	5.37:g.137853274C>G	ENSP00000353741:p.Leu126Phe		137881173	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536764	0.45176	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014;ENST00000507939	.	.	.	5.39	5.39	0.77823	eRF1 domain 1/Pelota-like (1);Peptide Chain Release Factor eRF1/aRF1, N-terminal (2);	0.129206	0.51477	D	0.000098	T	0.75510	0.3859	M	0.78637	2.42	0.80722	D	1	D;B	0.71674	0.998;0.073	D;B	0.64687	0.928;0.057	T	0.74031	-0.3795	9	0.30854	T	0.27	-3.3899	12.1573	0.54085	0.0:0.9208:0.0:0.0792	.	112;126	B7Z7P8;P62495	.;ERF1_HUMAN	F	93;126;112;93	.	ENSP00000353741:L126F	L	-	3	2	ETF1	137881173	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.343000	0.52167	2.526000	0.85167	0.655000	0.94253	TTG		0.388	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		G	137853274	C	G	137853274	3	3	120	1	0	0	0	0	1	0	0	0	5268	477	17	3	967	3	ETF1	5	137853274	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09		137853274	43061986	17	6591											
RBM24	221662	genome.wustl.edu	37	6	17284942	17284942	+	Splice_Site	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr6:17284942G>A	ENST00000379052.5	+	3	583	c.347G>A	c.(346-348)gGg>gAg	p.G116E	RBM24_ENST00000425446.2_Splice_Site_p.G58E|RBM24_ENST00000318204.5_Splice_Site_p.G71E	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	116					cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.G71E(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AGACCTTTCGGGTAAGTTGAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	6											194	191	192					6																	17284942		2203	4300	6503	17392921	SO:0001630	splice_region_variant	221662			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"RNA binding motif (RRM) containing"	21539	protein-coding gene	gene with protein product			"RNA-binding region (RNP1, RRM) containing 6"	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.347+1G>A	6.37:g.17284942G>A			17392921	E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	CCDS47378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.325157|4.325157	0.81580|0.81580	.|.	.|.	ENSG00000112183|ENSG00000112183	ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204|ENST00000503965	T;T;T|T	0.23754|0.24538	2.13;1.92;1.89|1.85	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.40956|0.40956	0.1138|0.1138	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.992;0.992|.	D;D;D|.	0.72338|.	0.977;0.937;0.937|.	T|T	0.15752|0.15752	-1.0426|-1.0426	10|8	0.54805|0.44086	T|T	0.06|0.13	-6.2533|-6.2533	19.119|19.119	0.93355|0.93355	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	71;116;116|.	Q9BX46-2;Q9BX46;A8KAI7|.	.;RBM24_HUMAN;.|.	E|R	116;75;58;71|81	ENSP00000368341:G116E;ENSP00000396898:G58E;ENSP00000319551:G71E|ENSP00000421971:G81R	ENSP00000319551:G71E|ENSP00000421971:G81R	G|G	+|+	2|1	0|0	RBM24|RBM24	17392921|17392921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	9.843000|9.843000	0.99491|0.99491	2.525000|2.525000	0.85131|0.85131	0.557000|0.557000	0.71058|0.71058	GGG;GGA;GGG;GGG|GGA		0.358	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020	Missense_Mutation	A	17284942	G	A	17284942	5	1	120	1	0	0	0	0	0	0	1	0	13127	1246	43	2	390	2	RBM24	6	17284942	Splice_Site	SNP	G	TCGA-13-1404-01A-01W-0494-09		17284942	153830125	18	6592											
KIAA0319	9856	genome.wustl.edu	37	6	24576596	24576596	+	Splice_Site	SNP	C	C	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr6:24576596C>G	ENST00000378214.3	-	10	2258	c.1734G>C	c.(1732-1734)caG>caC	p.Q578H	KIAA0319_ENST00000535378.1_Splice_Site_p.Q569H|KIAA0319_ENST00000537886.1_Splice_Site_p.Q578H|KIAA0319_ENST00000543707.1_Splice_Site_p.Q578H|KIAA0319_ENST00000430948.2_Splice_Site_p.Q533H	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	578	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q578H(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GAGAACTTGCCTGCATGACCA	0.473																																																1	Substitution - Missense(1)	ovary(1)	6											222	200	208					6																	24576596		2203	4300	6503	24684575	SO:0001630	splice_region_variant	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1734+1G>C	6.37:g.24576596C>G			24684575	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001475	0.74818	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	3.9	3.9	0.45041	PKD/Chitinase domain (1);PKD/REJ-like protein (1);PKD domain (3);	0.167911	0.40554	N	0.001080	D	0.82440	0.5037	M	0.92367	3.3	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;P;D	0.66979	0.914;0.878;0.948	D	0.87270	0.2285	9	.	.	.	-12.6337	16.4334	0.83861	0.0:1.0:0.0:0.0	.	578;569;578	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	H	578;569;533;578;578	ENSP00000439700:Q578H;ENSP00000442403:Q569H;ENSP00000401086:Q533H;ENSP00000367459:Q578H;ENSP00000437656:Q578H	.	Q	-	3	2	KIAA0319	24684575	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	6.348000	0.73009	2.153000	0.67306	0.655000	0.94253	CAG		0.473	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	Missense_Mutation	G	24576596	C	G	24576596	5	3	120	1	0	0	0	0	0	0	1	0	8168	695	24	3	1532	3	KIAA0319	6	24576596	Splice_Site	SNP	C	TCGA-13-1404-01A-01W-0494-09	7291654	24576596	146538471	19	6593											
SRF	6722	genome.wustl.edu	37	6	43144302	43144302	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr6:43144302G>T	ENST00000265354.4	+	4	1417	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H	SRF_ENST00000457278.2_Missense_Mutation_p.Q149H	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	353					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)	p.Q353H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGTGGCCCAGCAGGTCCCAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	6											112	92	99					6																	43144302		2203	4300	6503	43252280	SO:0001583	missense	6722			J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.1059G>T	6.37:g.43144302G>T	ENSP00000265354:p.Gln353His		43252280	Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251673	0.39797	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.85088	-1.94	5.17	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.81508	0.4837	L	0.27053	0.805	0.58432	D	0.999994	D	0.61697	0.99	D	0.72982	0.979	T	0.82368	-0.0492	10	0.39692	T	0.17	-17.94	10.998	0.47589	0.1492:0.0:0.8508:0.0	.	353	P11831	SRF_HUMAN	H	353;149	ENSP00000265354:Q353H	ENSP00000265354:Q353H	Q	+	3	2	SRF	43252280	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.094000	0.50227	1.420000	0.47138	0.655000	0.94253	CAG		0.622	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		T	43144302	G	T	43144302	3	4	120	1	0	0	0	0	1	0	0	0	15145	962	34	3	1073	3	SRF	6	43144302	Missense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09	18567706	43144302	127970765	20	6594											
COL19A1	1310	genome.wustl.edu	37	6	70881878	70881878	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr6:70881878T>G	ENST00000322773.4	+	41	2693	c.2591T>G	c.(2590-2592)tTg>tGg	p.L864W	COL19A1_ENST00000393344.1_Missense_Mutation_p.L486W	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	864	Collagen-like 9.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.L864W(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCAATGGGGTTGCCAGGATTA	0.358																																																1	Substitution - Missense(1)	ovary(1)	6											103	105	105					6																	70881878		2203	4300	6503	70938599	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2591T>G	6.37:g.70881878T>G	ENSP00000316030:p.Leu864Trp		70938599	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030500	0.54790	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.94758	-3.51;-3.51	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000019	D	0.96534	0.8869	M	0.74647	2.275	0.41468	D	0.988083	D	0.89917	1.0	D	0.91635	0.999	D	0.96995	0.9725	10	0.62326	D	0.03	.	15.1804	0.72952	0.0:0.0:0.0:1.0	.	864	Q14993	COJA1_HUMAN	W	864;486	ENSP00000316030:L864W;ENSP00000377013:L486W	ENSP00000316030:L864W	L	+	2	0	COL19A1	70938599	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	4.513000	0.60476	2.324000	0.78689	0.533000	0.62120	TTG		0.358	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			G	70881878	T	G	70881878	3	3	120	1	0	0	0	0	1	0	0	0	3676	1821	63	5	2749	5	COL19A1	6	70881878	Missense_Mutation	SNP	T	TCGA-13-1404-01A-01W-0494-09	27737576	70881878	100233189	21	6595											
KIAA1009	22832	genome.wustl.edu	37	6	84904724	84904724	+	Nonsense_Mutation	SNP	G	G	C			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr6:84904724G>C	ENST00000403245.3	-	10	1019	c.905C>G	c.(904-906)tCa>tGa	p.S302*	KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.S226*|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.S302*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATCTCCCAATGAATGGGCTAT	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	6											161	138	146					6																	84904724		2203	4299	6502	84961443	SO:0001587	stop_gained	22832																														ENST00000403245.3:c.905C>G	6.37:g.84904724G>C	ENSP00000385215:p.Ser302*		84961443		Nonsense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	36	5.672445	0.96754	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.6356	17.2476	0.87032	0.0:0.0:1.0:0.0	.	.	.	.	X	226;302	.	ENSP00000257766:S226X	S	-	2	0	KIAA1009	84961443	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	6.309000	0.72825	2.369000	0.80426	0.557000	0.71058	TCA		0.363	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			C	84904724	G	C	84904724	4	2	120	1	0	0	0	0	0	1	0	0	8203	1294	45	3	3378	3	KIAA1009	6	84904724	Nonsense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09	14022846	84904724	86210343	22	6596											
ARPC1A	10552	genome.wustl.edu	37	7	98941960	98941960	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr7:98941960G>A	ENST00000262942.5	+	4	338	c.214G>A	c.(214-216)Gca>Aca	p.A72T	ARPC1A_ENST00000432884.2_Missense_Mutation_p.A25T	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	72					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)	p.A72T(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CACTTGTGGGGCAGACCGCAA	0.517																																																1	Substitution - Missense(1)	ovary(1)	7											92	84	87					7																	98941960		2203	4300	6503	98779896	SO:0001583	missense	10552			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	703	protein-coding gene	gene with protein product	"actin binding protein (Schizosaccharomyces pombe sop2-like)", "SOP2-like protein"	604220	"actin related protein 2/3 complex, subunit 1A (41 kD)"			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.214G>A	7.37:g.98941960G>A	ENSP00000262942:p.Ala72Thr		98779896	A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919762	0.52653	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.61510	0.1;0.1	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	L	0.39898	1.24	0.80722	D	1	B;P	0.47409	0.019;0.895	B;B	0.42462	0.05;0.388	T	0.44682	-0.9312	10	0.14656	T	0.56	.	19.5677	0.95401	0.0:0.0:1.0:0.0	.	67;72	Q53GB6;Q92747	.;ARC1A_HUMAN	T	25;72	ENSP00000408578:A25T;ENSP00000262942:A72T	ENSP00000262942:A72T	A	+	1	0	ARPC1A	98779896	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	7.846000	0.86887	2.691000	0.91804	0.655000	0.94253	GCA		0.517	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		A	98941960	G	A	98941960	3	1	120	1	0	0	0	0	1	0	0	0	969	1203	42	2	224	2	ARPC1A	7	98941960	Missense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09		98941960	60196703	23	6597											
RINT1	60561	genome.wustl.edu	37	7	105183036	105183036	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr7:105183036T>C	ENST00000257700.2	+	4	686	c.455T>C	c.(454-456)aTt>aCt	p.I152T		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	152					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.I152T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATTAGCCAGATTGAAGAGATC	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											130	115	120					7																	105183036		2203	4300	6503	104970272	SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.455T>C	7.37:g.105183036T>C	ENSP00000257700:p.Ile152Thr		104970272	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799687	0.50208	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.33216	1.42	5.16	5.16	0.70880	.	0.335699	0.33959	N	0.004385	T	0.26846	0.0657	L	0.46157	1.445	0.43467	D	0.995675	B	0.33583	0.418	B	0.24541	0.054	T	0.05616	-1.0874	10	0.48119	T	0.1	-9.2808	14.9865	0.71351	0.0:0.0:0.0:1.0	.	152	Q6NUQ1	RINT1_HUMAN	T	152;121	ENSP00000257700:I152T	ENSP00000257700:I152T	I	+	2	0	RINT1	104970272	1.000000	0.71417	0.835000	0.33067	0.434000	0.31775	7.287000	0.78681	1.929000	0.55896	0.379000	0.24179	ATT		0.418	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		C	105183036	T	C	105183036	3	2	120	1	0	0	0	0	1	0	0	0	13379	1493	52	4	469	4	RINT1	7	105183036	Missense_Mutation	SNP	T	TCGA-13-1404-01A-01W-0494-09	6241076	105183036	53955627	24	6598											
PLXNA4	91584	genome.wustl.edu	37	7	131831327	131831327	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr7:131831327C>T	ENST00000359827.3	-	28	5959	c.4997G>A	c.(4996-4998)gGg>gAg	p.G1666E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1666E			Q9HCM2	PLXA4_HUMAN	plexin A4	1666					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G1666E(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCCCGGTCCCCCTCCTTCTG	0.572																																																1	Substitution - Missense(1)	ovary(1)	7											200	215	210					7																	131831327		2183	4297	6480	131481867	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4997G>A	7.37:g.131831327C>T	ENSP00000352882:p.Gly1666Glu		131481867	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	33	5.257019	0.95336	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11821	2.74;2.74	5.8	5.8	0.92144	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.048346	0.85682	D	0.000000	T	0.44993	0.1320	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.30208	-0.9986	10	0.41790	T	0.15	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	1666	Q9HCM2	PLXA4_HUMAN	E	1666	ENSP00000323194:G1666E;ENSP00000352882:G1666E	ENSP00000323194:G1666E	G	-	2	0	PLXNA4	131481867	1.000000	0.71417	0.964000	0.40570	0.936000	0.57629	7.670000	0.83925	2.758000	0.94735	0.561000	0.74099	GGG		0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131831327	C	T	131831327	3	4	120	1	0	0	0	0	1	0	0	0	12122	623	22	2	707	2	PLXNA4	7	131831327	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09	26648291	131831327	27307336	25	6599											
MLL3	58508	genome.wustl.edu	37	7	151851443	151851443	+	Silent	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr7:151851443G>A	ENST00000262189.6	-	47	12266	c.12048C>T	c.(12046-12048)agC>agT	p.S4016S	KMT2C_ENST00000355193.2_Silent_p.S4073S|KMT2C_ENST00000485241.1_5'UTR	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4016					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S4016S(1)									CTGGATACCTGCTCACTTCTA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	7											146	144	145					7																	151851443		2203	4300	6503	151482376	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12048C>T	7.37:g.151851443G>A			151482376	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372483	0.24857	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.38	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2477	0.15506	0.0768:0.2664:0.5196:0.1372	.	.	.	.	X	1577	.	.	Q	-	1	0	MLL3	151482376	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	0.994000	0.29693	0.717000	0.32145	0.655000	0.94253	CAG		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151851443	G	A	151851443	2	1	120	1	0	0	0	0	0	0	0	1	9622	1310	46	2		2	MLL3	7	151851443	Silent	SNP	G	TCGA-13-1404-01A-01W-0494-09	20020116	151851443	7287220	26	6600											
TMEM71	137835	genome.wustl.edu	37	8	133740207	133740207	+	Silent	SNP	C	C	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr8:133740207C>G	ENST00000356838.3	-	6	598	c.456G>C	c.(454-456)ctG>ctC	p.L152L	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Silent_p.L171L	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	171						integral component of membrane (GO:0016021)		p.L152L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGTCATCAGTCAGAGAAGAAC	0.488																																																1	Substitution - coding silent(1)	ovary(1)	8											82	79	80					8																	133740207		2203	4300	6503	133809389	SO:0001819	synonymous_variant	137835			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.456G>C	8.37:g.133740207C>G			133809389	Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	ENST00000356838.3	37	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	C	2.693	-0.272696	0.05716	.	.	ENSG00000165071	ENST00000522780	.	.	.	5.91	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0207	4.8612	0.13585	0.0:0.5368:0.1512:0.312	.	.	.	.	S	9	.	.	X	-	2	2	TMEM71	133809389	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.006000	0.13152	0.404000	0.25506	-0.140000	0.14226	TGA		0.488	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		G	133740207	C	G	133740207	2	3	120	1	0	0	0	0	0	0	0	1	16200	813	29	3		3	TMEM71	8	133740207	Silent	SNP	C	TCGA-13-1404-01A-01W-0494-09		133740207	12623815	27	6601											
PTCH1	5727	genome.wustl.edu	37	9	98220500	98220500	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr9:98220500A>T	ENST00000331920.6	-	18	3262	c.2963T>A	c.(2962-2964)gTg>gAg	p.V988E	PTCH1_ENST00000437951.1_Missense_Mutation_p.V922E|PTCH1_ENST00000375274.2_Missense_Mutation_p.V987E|PTCH1_ENST00000418258.1_Missense_Mutation_p.V837E|PTCH1_ENST00000421141.1_Missense_Mutation_p.V837E|PTCH1_ENST00000430669.2_Missense_Mutation_p.V922E|PTCH1_ENST00000429896.2_Missense_Mutation_p.V837E	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	988					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V988E(2)|p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AATTGCCTCCACAAAGTCTGA	0.557																																																3	Substitution - Missense(2)|Deletion - Frameshift(1)	ovary(2)|central_nervous_system(1)	9											54	47	49					9																	98220500		2203	4300	6503	97260321	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2963T>A	9.37:g.98220500A>T	ENSP00000332353:p.Val988Glu		97260321	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027860	0.75390	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.21	4.05	0.47172	.	0.053822	0.85682	N	0.000000	D	0.90817	0.7116	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.996	D;D;D	0.74023	0.948;0.982;0.958	D	0.90847	0.4728	10	0.62326	D	0.03	-16.1241	11.6751	0.51425	0.8671:0.0:0.0:0.1329	.	922;987;988	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	E	988;922;837;837;424;922;837;987	ENSP00000332353:V988E;ENSP00000389744:V922E;ENSP00000399981:V837E;ENSP00000396135:V837E;ENSP00000410287:V922E;ENSP00000414823:V837E;ENSP00000364423:V987E	ENSP00000332353:V988E	V	-	2	0	PTCH1	97260321	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.709000	0.91379	1.074000	0.40909	0.459000	0.35465	GTG		0.557	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98220500	A	T	98220500	3	4	120	1	0	0	0	0	1	0	0	0	12733	159	6	5	1404	5	PTCH1	9	98220500	Missense_Mutation	SNP	A	TCGA-13-1404-01A-01W-0494-09		98220500	42992931	28	6602											
C9orf171	389799	genome.wustl.edu	37	9	135447859	135447859	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr9:135447859C>A	ENST00000343036.2	+	7	973	c.925C>A	c.(925-927)Cag>Aag	p.Q309K	C9orf171_ENST00000393216.2_Missense_Mutation_p.Q273K	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	309								p.Q309K(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TGCCGTGCGCCAGGGGACCCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	9											50	49	50					9																	135447859		2203	4300	6503	134437680	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.925C>A	9.37:g.135447859C>A	ENSP00000343290:p.Gln309Lys		134437680	Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	7.472	0.646954	0.14516	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.20738	2.05;2.05	5.53	5.53	0.82687	.	0.165183	0.34580	N	0.003857	T	0.12817	0.0311	N	0.19112	0.55	0.28139	N	0.929873	B;B	0.14012	0.002;0.009	B;B	0.11329	0.001;0.006	T	0.15636	-1.0430	10	0.05721	T	0.95	.	14.9549	0.71104	0.0:1.0:0.0:0.0	.	273;309	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	K	309;273	ENSP00000343290:Q309K;ENSP00000376909:Q273K	ENSP00000343290:Q309K	Q	+	1	0	C9orf171	134437680	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.907000	0.56348	2.617000	0.88574	0.542000	0.68232	CAG		0.607	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		A	135447859	C	A	135447859	3	1	120	1	0	0	0	0	1	0	0	0	2470	595	21	3	951	3	C9orf171	9	135447859	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09	37227359	135447859	5765572	29	6603											
PTER	9317	genome.wustl.edu	37	10	16528617	16528617	+	Splice_Site	SNP	G	G	C			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr10:16528617G>C	ENST00000378000.1	+	4	944		c.e4+1		PTER_ENST00000423462.2_Splice_Site|PTER_ENST00000298942.3_Splice_Site|PTER_ENST00000535784.2_Splice_Site|PTER_ENST00000485788.1_3'UTR	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related						catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ACCTGGATAGGTAAGTAGGCT	0.418																																					Ovarian(2;46 150 15648 38137 47908)											1	Unknown(1)	ovary(1)	10											71	72	72					10																	16528617		2203	4300	6503	16568623	SO:0001630	splice_region_variant	9317			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.698+1G>C	10.37:g.16528617G>C			16568623	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Splice_Site	SNP	ENST00000378000.1	37	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415696	0.62511	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	.	.	.	6.07	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1338	0.72545	0.0672:0.0:0.9328:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTER	16568623	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	8.025000	0.88777	1.586000	0.49944	0.650000	0.86243	.		0.418	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664	Intron	C	16528617	G	C	16528617	5	2	120	1	0	0	0	0	0	0	1	0	12742	1275	44	3	705	3	PTER	10	16528617	Splice_Site	SNP	G	TCGA-13-1404-01A-01W-0494-09		16528617	119006130	30	6604											
KIAA0913	23053	genome.wustl.edu	37	10	75557650	75557650	+	Silent	SNP	G	G	T	rs202200703		TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr10:75557650G>T	ENST00000605216.1	+	19	3976	c.3759G>T	c.(3757-3759)ggG>ggT	p.G1253G	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604729.1_Silent_p.G1258G|ZSWIM8_ENST00000603114.1_Silent_p.G1220G|ZSWIM8_ENST00000398706.2_Silent_p.G1258G|ZSWIM8_ENST00000604524.1_Silent_p.G1253G	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1253							zinc ion binding (GO:0008270)	p.G1253G(1)									TCAAGGCAGGGGGCAACAGCA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	10											107	116	113					10																	75557650		2109	4223	6332	75227656	SO:0001819	synonymous_variant	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3759G>T	10.37:g.75557650G>T			75227656	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.01|12.01	1.810916|1.810916	0.32053|0.32053	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000433366	.|.	.|.	.|.	5.74|5.74	2.88|2.88	0.33553|0.33553	.|.	0.000000|0.000000	0.64402|0.64402	U|U	0.000004|0.000004	T|T	0.51092|0.51092	0.1654|0.1654	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56232|0.56232	-0.8013|-0.8013	6|6	0.87932|0.87932	D|D	0|0	-7.9696|-7.9696	1.4316|1.4316	0.02335|0.02335	0.276:0.1315:0.4398:0.1528|0.276:0.1315:0.4398:0.1528	.|.	.|.	.|.	.|.	V|W	528|969	.|.	ENSP00000415612:G528V|ENSP00000387828:G969W	G|G	+|+	2|1	0|0	KIAA0913|KIAA0913	75227656|75227656	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.235000|0.235000	0.17948|0.17948	1.449000|1.449000	0.47699|0.47699	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.582	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		T	75557650	G	T	75557650	2	4	120	1	0	0	0	0	0	0	0	1	8200	1219	43	3		3	KIAA0913	10	75557650	Silent	SNP	G	TCGA-13-1404-01A-01W-0494-09	59029033	75557650	59977097	31	6605											
NR1H3	10062	genome.wustl.edu	37	11	47290239	47290239	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr11:47290239C>T	ENST00000467728.1	+	9	2574	c.1336C>T	c.(1336-1338)Cac>Tac	p.H446Y	MADD_ENST00000395336.3_5'Flank|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000395344.3_5'Flank|NR1H3_ENST00000529540.1_3'UTR|MADD_ENST00000402799.1_5'Flank|MADD_ENST00000406482.1_5'Flank|MADD_ENST00000342922.4_5'Flank|NR1H3_ENST00000405576.1_Missense_Mutation_p.H341Y|MADD_ENST00000402192.2_5'Flank|MADD_ENST00000407859.3_5'Flank|NR1H3_ENST00000441012.2_Missense_Mutation_p.H446Y|MADD_ENST00000349238.3_5'Flank|NR1H3_ENST00000407404.1_Missense_Mutation_p.H386Y|MADD_ENST00000311027.5_5'Flank|NR1H3_ENST00000527949.1_Missense_Mutation_p.H295Y|RP11-17G12.3_ENST00000545474.1_RNA|NR1H3_ENST00000405853.3_Missense_Mutation_p.H386Y|NR1H3_ENST00000395397.3_Missense_Mutation_p.H401Y|NR1H3_ENST00000481889.2_Missense_Mutation_p.H465Y			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	446					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.H446Y(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CTGGGATGTGCACGAATGACT	0.557																																																1	Substitution - Missense(1)	ovary(1)	11											111	100	104					11																	47290239		2201	4298	6499	47246815	SO:0001583	missense	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.1336C>T	11.37:g.47290239C>T	ENSP00000420656:p.His446Tyr		47246815	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702530	0.68501	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D	0.94092	-2.92;-3.14;-3.03;-3.15;-2.97;-2.97;-3.15;-3.35	5.8	3.87	0.44632	Nuclear hormone receptor, ligand-binding (1);	0.146357	0.64402	D	0.000010	D	0.92087	0.7492	L	0.29908	0.895	0.58432	D	0.999991	B;D;D;D;D	0.58970	0.097;0.973;0.984;0.967;0.973	B;P;P;B;P	0.53062	0.016;0.525;0.664;0.36;0.717	D	0.92021	0.5626	10	0.72032	D	0.01	.	14.5079	0.67764	0.4065:0.5935:0.0:0.0	.	452;341;446;465;386	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	Y	401;341;465;386;446;446;386;295	ENSP00000378793:H401Y;ENSP00000385073:H341Y;ENSP00000433271:H465Y;ENSP00000385801:H386Y;ENSP00000387946:H446Y;ENSP00000420656:H446Y;ENSP00000384745:H386Y;ENSP00000432073:H295Y	ENSP00000378793:H401Y	H	+	1	0	NR1H3	47246815	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.436000	0.44819	0.729000	0.32403	-0.274000	0.10170	CAC		0.557	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			T	47290239	C	T	47290239	3	4	120	1	0	0	0	0	1	0	0	0	10618	710	25	2	1370	2	NR1H3	11	47290239	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09		47290239	87716277	32	6606											
MS4A7	58475	genome.wustl.edu	37	11	60161283	60161283	+	Silent	SNP	A	A	T			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr11:60161283A>T	ENST00000300184.3	+	7	868	c.672A>T	c.(670-672)tcA>tcT	p.S224S	MS4A7_ENST00000358246.1_Silent_p.S179S|MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000395005.2_5'Flank|MS4A7_ENST00000534016.1_Silent_p.S179S|MS4A14_ENST00000531783.1_5'Flank|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'Flank|MS4A14_ENST00000300187.6_5'Flank	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	224						integral component of membrane (GO:0016021)		p.S224S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CGACCCAGTCACAAGATCATA	0.353																																																1	Substitution - coding silent(1)	ovary(1)	11											114	114	114					11																	60161283		2203	4300	6503	59917859	SO:0001819	synonymous_variant	58475			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.672A>T	11.37:g.60161283A>T			59917859	A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	CCDS7985.1																																																																																				0.353	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			T	60161283	A	T	60161283	2	4	120	1	0	0	0	0	0	0	0	1	9866	146	6	5		5	MS4A7	11	60161283	Silent	SNP	A	TCGA-13-1404-01A-01W-0494-09	12871044	60161283	74845233	33	6607											
DDB1	1642	genome.wustl.edu	37	11	61079255	61079256	+	Splice_Site	DNP	CC	CC	AA			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	CC	CC	CC	AA	CC	CC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr11:61079255_61079256CC>AA	ENST00000301764.7	-	18	2674_2675	c.2277_2278GG>TT	c.(2275-2280)caGGct>caTTct	p.759_760QA>HS	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	759	Interaction with CDT1.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACTGCCCTTACCTGGGTGCTAG	0.579								Nucleotide excision repair (NER)																																								0			11																																								60835832	SO:0001630	splice_region_variant	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2277_2278delinsAA	11.37:g.61079255_61079256delinsAA			60835831	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	DNP	ENST00000301764.7	37	CCDS31576.1																																																																																				0.579	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Missense_Mutation	AA	61079256	CC	AA	61079255	5	1	120	1	0	0	0	0	0	0	1	0	4323	521	18	3	1184	3	DDB1	11	61079255	Splice_Site	DNP	CC	TCGA-13-1404-01A-01W-0494-09	917972	61079255	73927261	34	6608											
LGALS12	85329	genome.wustl.edu	37	11	63283168	63283168	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr11:63283168C>T	ENST00000394618.3	+	8	1138	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	LGALS12_ENST00000255684.5_Missense_Mutation_p.P274S|LGALS12_ENST00000425950.2_Missense_Mutation_p.P213S|LGALS12_ENST00000415491.2_Missense_Mutation_p.P222S|LGALS12_ENST00000340246.5_Missense_Mutation_p.P284S	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	283	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.P283S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CCTCTTTTACCCCCAGAGATT	0.552																																																1	Substitution - Missense(1)	ovary(1)	11											50	50	50					11																	63283168		2201	4298	6499	63039744	SO:0001583	missense	85329			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.847C>T	11.37:g.63283168C>T	ENSP00000378116:p.Pro283Ser		63039744	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041394	0.75732	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (3);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000012	T	0.19927	0.0479	L	0.52364	1.645	0.42717	D	0.993662	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.986;0.999;0.979;0.979	T	0.00086	-1.2096	10	0.41790	T	0.15	-22.7932	15.5052	0.75731	0.0:1.0:0.0:0.0	.	243;284;274;283	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	S	274;283;284;222;213	ENSP00000255684:P274S;ENSP00000378116:P283S;ENSP00000339374:P284S;ENSP00000394659:P222S;ENSP00000399093:P213S	ENSP00000255684:P274S	P	+	1	0	LGALS12	63039744	0.971000	0.33674	1.000000	0.80357	0.955000	0.61496	2.577000	0.46042	2.739000	0.93911	0.561000	0.74099	CCC		0.552	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		T	63283168	C	T	63283168	3	4	120	1	0	0	0	0	1	0	0	0	8739	623	22	2	880	2	LGALS12	11	63283168	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09	2203913	63283168	71723348	35	6609											
TMEM126A	84233	genome.wustl.edu	37	11	85366721	85366721	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr11:85366721G>A	ENST00000304511.2	+	4	473	c.364G>A	c.(364-366)Gct>Act	p.A122T	TMEM126A_ENST00000528105.1_Missense_Mutation_p.A52T|TMEM126A_ENST00000532180.1_Missense_Mutation_p.A52T	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	122					optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.A122T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGTTTTCTTGGCTATACCTGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11											240	235	236					11																	85366721		2203	4299	6502	85044369	SO:0001583	missense	84233				CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.364G>A	11.37:g.85366721G>A	ENSP00000306887:p.Ala122Thr		85044369	B2R570|E9PI16	Missense_Mutation	SNP	ENST00000304511.2	37	CCDS8268.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978202	0.92982	.	.	ENSG00000171202	ENST00000528105;ENST00000304511;ENST00000532180	T;T;T	0.50813	0.73;0.73;0.73	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75431	-0.3320	9	.	.	.	-17.0021	19.7457	0.96251	0.0:0.0:1.0:0.0	.	122	Q9H061	T126A_HUMAN	T	52;122;52	ENSP00000436590:A52T;ENSP00000306887:A122T;ENSP00000434357:A52T	.	A	+	1	0	TMEM126A	85044369	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.698000	0.84413	2.725000	0.93324	0.557000	0.71058	GCT		0.358	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392177.1	NM_032273		A	85366721	G	A	85366721	3	1	120	1	0	0	0	0	1	0	0	0	16038	1203	42	2	374	2	TMEM126A	11	85366721	Missense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09	22083553	85366721	49639795	36	6610											
FOLH1B	219595	genome.wustl.edu	37	11	89429832	89429832	+	RNA	SNP	C	C	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr11:89429832C>A	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.L360I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAATGATCAACTCATGTTTCT	0.313																																																1	Substitution - Missense(1)	ovary(1)	11											102	97	99					11																	89429832		2201	4299	6500	89069480			219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89429832C>A			89069480		Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.313	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		A	89429832	C	A	89429832	1	1	120	0	1	0	0	0	0	0	0	0	5980	565	20	3		3	FOLH1B	11	89429832	RNA	SNP	C	TCGA-13-1404-01A-01W-0494-09	4063111	89429832	45576684	37	6611											
DSCAML1	57453	genome.wustl.edu	37	11	117651238	117651238	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	T	T	A	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr11:117651238T>A	ENST00000321322.6	-	2	515	c.514A>T	c.(514-516)Atc>Ttc	p.I172F	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	112	Ig-like C2-type 2.			H -> N (in Ref. 1; AAL57166 and 4; BAA86446). {ECO:0000305}.	axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I172F(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGCTCCGGATCTTGCCGGCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	11											119	117	118					11																	117651238		2201	4296	6497	117156448	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.514A>T	11.37:g.117651238T>A	ENSP00000315465:p.Ile172Phe		117156448	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.447303|4.447303	0.84101|0.84101	.|.	.|.	ENSG00000177103|ENSG00000177103	ENST00000321322|ENST00000525836	T|.	0.39997|.	1.05|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.71676|0.71676	0.3368|0.3368	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.75286|0.75286	-0.3371|-0.3371	9|6	0.59425|0.87932	D|D	0.04|0	.|.	15.212|15.212	0.73230|0.73230	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	112|.	Q8TD84|.	DSCL1_HUMAN|.	F|S	172|13	ENSP00000315465:I172F|.	ENSP00000315465:I172F|ENSP00000436387:R13S	I|R	-|-	1|3	0|2	DSCAML1|DSCAML1	117156448|117156448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.655000|7.655000	0.83696|0.83696	2.053000|2.053000	0.61076|0.61076	0.460000|0.460000	0.39030|0.39030	ATC|AGA		0.597	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		A	117651238	T	A	117651238	3	1	120	1	0	0	0	0	1	0	0	0	4769	1435	50	5	5955	5	DSCAML1	11	117651238	Missense_Mutation	SNP	T	TCGA-13-1404-01A-01W-0494-09	28221406	117651238	17355278	38	6612											
ESYT1	23344	genome.wustl.edu	37	12	56528127	56528127	+	Splice_Site	SNP	C	C	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr12:56528127C>G	ENST00000394048.5	+	15	1811	c.1547C>G	c.(1546-1548)gCt>gGt	p.A516G	ESYT1_ENST00000541590.1_Splice_Site_p.A526G|ESYT1_ENST00000267113.4_Splice_Site_p.A526G	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	516	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.A516G(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CATCTCCAGGCTGTCTACAGT	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											192	176	182					12																	56528127		2203	4300	6503	54814394	SO:0001630	splice_region_variant	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1546-1C>G	12.37:g.56528127C>G			54814394	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102861	0.76983	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.69561	-0.41;-0.41;-0.41	5.28	5.28	0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.156711	0.56097	D	0.000021	T	0.67618	0.2912	L	0.38175	1.15	0.33934	D	0.642403	D;D	0.57571	0.967;0.98	P;P	0.57324	0.679;0.818	T	0.74763	-0.3555	10	0.44086	T	0.13	-9.6798	10.3549	0.43958	0.0:0.9096:0.0:0.0904	.	526;516	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	G	516;470;526;526	ENSP00000377612:A516G;ENSP00000267113:A526G;ENSP00000445952:A526G	ENSP00000267113:A526G	A	+	2	0	ESYT1	54814394	0.992000	0.36948	0.997000	0.53966	0.958000	0.62258	3.313000	0.51935	2.633000	0.89246	0.655000	0.94253	GCT		0.502	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292	Missense_Mutation	G	56528127	C	G	56528127	5	3	120	1	0	0	0	0	0	0	1	0	5264	811	28	3	1635	3	ESYT1	12	56528127	Splice_Site	SNP	C	TCGA-13-1404-01A-01W-0494-09		56528127	77323768	39	6613											
CEP290	80184	genome.wustl.edu	37	12	88505038	88505038	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr12:88505038C>A	ENST00000552810.1	-	22	2651	c.2308G>T	c.(2308-2310)Gca>Tca	p.A770S	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.A772S	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	770					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.A772S(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTAGATGGTGCTATCCCATCA	0.299																																																1	Substitution - Missense(1)	ovary(1)	12											60	53	56					12																	88505038		1816	4067	5883	87029169	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2308G>T	12.37:g.88505038C>A	ENSP00000448012:p.Ala770Ser		87029169	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010538	0.19277	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998	T;T	0.20069	2.1;2.1	5.86	2.6	0.31112	.	0.605618	0.17358	N	0.177132	T	0.08802	0.0218	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.17722	0.005;0.019	T	0.15896	-1.0421	10	0.09590	T	0.72	.	7.6049	0.28097	0.1152:0.62:0.0:0.2648	.	770;770	Q05BJ6;O15078	.;CE290_HUMAN	S	770;772;770	ENSP00000448012:A770S;ENSP00000308021:A772S	ENSP00000308021:A772S	A	-	1	0	CEP290	87029169	0.793000	0.28825	1.000000	0.80357	0.826000	0.46750	-0.110000	0.10824	0.810000	0.34279	-0.225000	0.12378	GCA		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		A	88505038	C	A	88505038	3	1	120	1	0	0	0	0	1	0	0	0	3253	797	28	3	5263	3	CEP290	12	88505038	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09	31976911	88505038	45346857	40	6614											
TMTC4	84899	genome.wustl.edu	37	13	101287301	101287301	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr13:101287301G>C	ENST00000376234.3	-	10	1483	c.1294C>G	c.(1294-1296)Ctg>Gtg	p.L432V	TMTC4_ENST00000328767.5_Missense_Mutation_p.L321V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.L451V	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	432						integral component of membrane (GO:0016021)		p.L451V(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTTTGCTCAGGGCTCCGAAT	0.512																																																1	Substitution - Missense(1)	ovary(1)	13											83	78	80					13																	101287301		2203	4300	6503	100085302	SO:0001583	missense	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1294C>G	13.37:g.101287301G>C	ENSP00000365408:p.Leu432Val		100085302	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537376	0.65085	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.67523	-0.22;-0.27;0.68	5.5	5.5	0.81552	.	0.312835	0.34156	N	0.004203	T	0.72374	0.3452	M	0.87269	2.87	0.21915	N	0.999473	P;P;P;B	0.42337	0.776;0.684;0.556;0.186	B;P;B;B	0.45343	0.391;0.477;0.232;0.166	T	0.72629	-0.4235	10	0.66056	D	0.02	.	7.352	0.26697	0.1209:0.0:0.7286:0.1506	.	321;432;432;451	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	V	432;451;321	ENSP00000365408:L432V;ENSP00000343871:L451V;ENSP00000365409:L321V	ENSP00000365409:L321V	L	-	1	2	TMTC4	100085302	0.998000	0.40836	0.143000	0.22291	0.939000	0.58152	3.196000	0.51020	2.584000	0.87258	0.563000	0.77884	CTG		0.512	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		C	101287301	G	C	101287301	3	2	120	1	0	0	0	0	1	0	0	0	16263	991	35	3	967	3	TMTC4	13	101287301	Missense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09		101287301	13882577	41	6615											
IL25	64806	genome.wustl.edu	37	14	23844833	23844833	+	Splice_Site	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr14:23844833G>A	ENST00000329715.2	+	2	536		c.e2-1		CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|IL25_ENST00000397242.2_Splice_Site|CMTM5_ENST00000555731.1_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25						eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)	p.?(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CGCCCCCACAGGTTGGACAGA	0.637																																																1	Unknown(1)	ovary(1)	14											106	110	109					14																	23844833		2203	4300	6503	22914673	SO:0001630	splice_region_variant	64806			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.279-1G>A	14.37:g.23844833G>A			22914673	Q2M3F0|Q8IZV3|Q8WXB0	Splice_Site	SNP	ENST00000329715.2	37	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576708	0.65878	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7287	0.57185	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL25	22914673	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.629000	0.61290	2.378000	0.81104	0.491000	0.48974	.		0.637	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2		Intron	A	23844833	G	A	23844833	5	1	120	1	0	0	0	0	0	0	1	0	7678	1014	35	2	297	2	IL25	14	23844833	Splice_Site	SNP	G	TCGA-13-1404-01A-01W-0494-09		23844833	83504707	42	6616											
ATP8B4	79895	genome.wustl.edu	37	15	50264915	50264915	+	Silent	SNP	T	T	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr15:50264915T>A	ENST00000284509.6	-	13	1248	c.1107A>T	c.(1105-1107)gcA>gcT	p.A369A	ATP8B4_ENST00000559829.1_Silent_p.A369A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	369						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A369A(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTGCAGGTATTGCTTTTCGAG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	15											73	68	70					15																	50264915		2196	4295	6491	48052207	SO:0001819	synonymous_variant	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1107A>T	15.37:g.50264915T>A			48052207	Q9H727	Silent	SNP	ENST00000284509.6	37	CCDS32238.1																																																																																				0.413	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		A	50264915	T	A	50264915	2	1	120	1	0	0	0	0	0	0	0	1	1197	1799	63	5		5	ATP8B4	15	50264915	Silent	SNP	T	TCGA-13-1404-01A-01W-0494-09		50264915	52266477	43	6617											
CILP	8483	genome.wustl.edu	37	15	65490133	65490133	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr15:65490133C>G	ENST00000261883.4	-	9	2657	c.2491G>C	c.(2491-2493)Gag>Cag	p.E831Q		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	831					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E831Q(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGCAGTTCCTCCCCAGCCAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	15											71	63	66					15																	65490133		2200	4296	6496	63277186	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2491G>C	15.37:g.65490133C>G	ENSP00000261883:p.Glu831Gln		63277186	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712704	0.68730	.	.	ENSG00000138615	ENST00000261883	T	0.11063	2.81	5.25	5.25	0.73442	.	0.044947	0.85682	D	0.000000	T	0.36635	0.0974	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11792	-1.0573	10	0.72032	D	0.01	-16.2835	18.1902	0.89805	0.0:1.0:0.0:0.0	.	831	O75339	CILP1_HUMAN	Q	831	ENSP00000261883:E831Q	ENSP00000261883:E831Q	E	-	1	0	CILP	63277186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.772000	0.85439	2.604000	0.88044	0.462000	0.41574	GAG		0.562	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		G	65490133	C	G	65490133	3	3	120	1	0	0	0	0	1	0	0	0	3429	864	30	3	1067	3	CILP	15	65490133	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09	15225218	65490133	37041259	44	6618											
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578403	C	T	7578403	3	4	120	1	0	0	0	0	1	0	0	0	16381	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09		7578403	73616807	45	6619											
CCDC40	55036	genome.wustl.edu	37	17	78032341	78032355	+	In_Frame_Del	DEL	ACATGCAGAACATCG	ACATGCAGAACATCG	-	rs370081372|rs141185078|rs377484770	byFrequency	TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	ACATGCAGAACATCG	ACATGCAGAACATCG	ACATGCAGAACATCG	-	ACATGCAGAACATCG	ACATGCAGAACATCG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr17:78032341_78032355delACATGCAGAACATCG	ENST00000397545.4	+	8	1235_1249	c.1208_1222delACATGCAGAACATCG	c.(1207-1224)tacatgcagaacatcgac>tac	p.MQNID404del	CCDC40_ENST00000374876.4_In_Frame_Del_p.MQNID404del|CCDC40_ENST00000269318.5_In_Frame_Del_p.MQNID404del|CCDC40_ENST00000374877.3_In_Frame_Del_p.MQNID404del	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	404					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.M404_D408del(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATCTCTTCTACATGCAGAACATCGACCAGGACAT	0.567																																																1	Deletion - In frame(1)	ovary(1)	17																																								75646950	SO:0001651	inframe_deletion	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1208_1222delACATGCAGAACATCG	17.37:g.78032341_78032355delACATGCAGAACATCG	ENSP00000380679:p.Met404_Asp408del		75646936	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	In_Frame_Del	DEL	ENST00000397545.4	37	CCDS42395.1																																																																																				0.567	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		-	78032355	ACATGCAGAACATCG	-	78032341	7	5	120	1	0	1	0	1	0	0	0	0	2812	391	14	0	1238	0	CCDC40	17	78032341	In_Frame_Del	DEL	ACATGCAGAACATCG	TCGA-13-1404-01A-01W-0494-09	70453938	78032341	3162869	46	6620											
PLIN4	729359	genome.wustl.edu	37	19	4511818	4511818	+	Silent	SNP	A	A	G	rs542160942	byFrequency	TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr19:4511818A>G	ENST00000301286.3	-	3	2111	c.2112T>C	c.(2110-2112)agT>agC	p.S704S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	704	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.S632S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGTGTCCACACTGGTCTGGA	0.607													G|||	33	0.00658946	0.003	0.0331	5008	,	,		42416	0.004		0	False		,,,				2504	0.002															1	Substitution - coding silent(1)	ovary(1)	19											256	274	268					19																	4511818		2147	4255	6402	4462818	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2112T>C	19.37:g.4511818A>G			4462818	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.607	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4511818	A	G	4511818	2	3	120	1	0	0	0	0	0	0	0	1	12092	156	6	4		4	PLIN4	19	4511818	Silent	SNP	A	TCGA-13-1404-01A-01W-0494-09		4511818	54617165	47	6621											
COL5A3	50509	genome.wustl.edu	37	19	10085074	10085074	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr19:10085074C>G	ENST00000264828.3	-	46	3438	c.3353G>C	c.(3352-3354)gGg>gCg	p.G1118A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1118	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G1118A(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCCTGAGCCCCGTCTGCTCC	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											28	32	31					19																	10085074		2203	4300	6503	9946074	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3353G>C	19.37:g.10085074C>G	ENSP00000264828:p.Gly1118Ala		9946074	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350194	0.61183	.	.	ENSG00000080573	ENST00000264828	D	0.99158	-5.5	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	D	0.99450	0.9805	H	0.94658	3.565	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	D	0.98316	1.0526	10	0.87932	D	0	.	14.8495	0.70286	0.0:1.0:0.0:0.0	.	1118	P25940	CO5A3_HUMAN	A	1118	ENSP00000264828:G1118A	ENSP00000264828:G1118A	G	-	2	0	COL5A3	9946074	1.000000	0.71417	0.785000	0.31869	0.379000	0.30106	5.060000	0.64312	2.070000	0.61991	0.313000	0.20887	GGG		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		G	10085074	C	G	10085074	3	3	120	1	0	0	0	0	1	0	0	0	3698	623	22	3	1972	3	COL5A3	19	10085074	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09	5573256	10085074	49043909	48	6622											
JAK3	3718	genome.wustl.edu	37	19	17946849	17946849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr19:17946849G>A	ENST00000527670.1	-	13	1827	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*	JAK3_ENST00000534444.1_Nonsense_Mutation_p.Q600*|JAK3_ENST00000458235.1_Nonsense_Mutation_p.Q600*|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	600	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Q600*(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ACAAATTCCTGCACCATGGTG	0.587		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	1	Substitution - Nonsense(1)	ovary(1)	19											97	91	93					19																	17946849		2203	4300	6503	17807849	SO:0001587	stop_gained	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1798C>T	19.37:g.17946849G>A	ENSP00000432511:p.Gln600*		17807849	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Nonsense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	37	6.582229	0.97680	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.9659	15.7013	0.77544	0.0:0.0:1.0:0.0	.	.	.	.	X	600	.	ENSP00000391676:Q600X	Q	-	1	0	JAK3	17807849	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	5.126000	0.64721	2.294000	0.77228	0.455000	0.32223	CAG		0.587	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		A	17946849	G	A	17946849	4	1	120	1	0	0	0	0	0	1	0	0	7939	1328	46	2	1620	2	JAK3	19	17946849	Nonsense_Mutation	SNP	G	TCGA-13-1404-01A-01W-0494-09	7861775	17946849	41182134	49	6623											
DEPDC5	9681	genome.wustl.edu	37	22	32202135	32202159	+	Frame_Shift_Del	DEL	TTGTAATAGTTTCACCCCACGAATA	TTGTAATAGTTTCACCCCACGAATA	-	rs539081017		TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	TTGTAATAGTTTCACCCCACGAATA	TTGTAATAGTTTCACCCCACGAATA	TTGTAATAGTTTCACCCCACGAATA	-	TTGTAATAGTTTCACCCCACGAATA	TTGTAATAGTTTCACCCCACGAATA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr22:32202135_32202159delTTGTAATAGTTTCACCCCACGAATA	ENST00000382112.3	+	17	1315_1339	c.1245_1269delTTGTAATAGTTTCACCCCACGAATA	c.(1243-1269)ttttgtaatagtttcaccccacgaatafs	p.FCNSFTPRI415fs	DEPDC5_ENST00000382105.2_Frame_Shift_Del_p.FCNSFTPRI415fs|DEPDC5_ENST00000535622.1_Frame_Shift_Del_p.FCNSFTPRI415fs|DEPDC5_ENST00000400242.3_Frame_Shift_Del_p.FCNSFTPRI415fs|DEPDC5_ENST00000382111.2_Frame_Shift_Del_p.FCNSFTPRI415fs|DEPDC5_ENST00000266091.3_Frame_Shift_Del_p.FCNSFTPRI415fs|DEPDC5_ENST00000400249.2_Frame_Shift_Del_p.FCNSFTPRI415fs|DEPDC5_ENST00000400246.1_Frame_Shift_Del_p.FCNSFTPRI415fs|DEPDC5_ENST00000536766.1_Frame_Shift_Del_p.FCNSFTPRI387fs|DEPDC5_ENST00000400248.2_Frame_Shift_Del_p.FCNSFTPRI415fs	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	415					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.F415fs*35(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCAGCTCTTTTGTAATAGTTTCACCCCACGAATAAAACTGGCAG	0.356																																																1	Deletion - Frameshift(1)	ovary(1)	22																																								30532159	SO:0001589	frameshift_variant	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1245_1269delTTGTAATAGTTTCACCCCACGAATA	22.37:g.32202135_32202159delTTGTAATAGTTTCACCCCACGAATA	ENSP00000371546:p.Phe415fs		30532135	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Frame_Shift_Del	DEL	ENST00000382112.3	37	CCDS46692.1																																																																																				0.356	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		-	32202159	TTGTAATAGTTTCACCCCACGAATA	-	32202135	7	5	120	1	0	1	0	1	0	0	0	0	4442	1838	64	0	1311	0	DEPDC5	22	32202135	Frame_Shift_Del	DEL	TTGTAATAGTTTCACCCCACGAATA	TCGA-13-1404-01A-01W-0494-09		32202135	19102431	50	6624											
CARD10	29775	genome.wustl.edu	37	22	37893155	37893155	+	Silent	SNP	G	G	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr22:37893155G>A	ENST00000403299.1	-	13	2034	c.1818C>T	c.(1816-1818)agC>agT	p.S606S	CARD10_ENST00000406271.3_Silent_p.S320S|CARD10_ENST00000251973.5_Silent_p.S606S			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	606					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)	p.S606S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCCCTGGGGGGCTCCGGCCAG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	22											57	65	62					22																	37893155		2203	4300	6503	36223101	SO:0001819	synonymous_variant	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1818C>T	22.37:g.37893155G>A			36223101	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																				0.577	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		A	37893155	G	A	37893155	2	1	120	1	0	0	0	0	0	0	0	1	2644	1194	42	2		2	CARD10	22	37893155	Silent	SNP	G	TCGA-13-1404-01A-01W-0494-09	5691020	37893155	13411411	51	6625											
EFCAB6	64800	genome.wustl.edu	37	22	44022441	44022441	+	Missense_Mutation	SNP	C	C	T	rs184368750		TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chr22:44022441C>T	ENST00000262726.7	-	20	2604	c.2351G>A	c.(2350-2352)cGc>cAc	p.R784H	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R632H	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	784					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R784H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCCAAGGAAGCGCTCAAACTC	0.433													C|||	1	0.000199681	0	0	5008	,	,		18628	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	22											93	88	90					22																	44022441		2203	4300	6503	42353774	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2351G>A	22.37:g.44022441C>T	ENSP00000262726:p.Arg784His		42353774	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.50	3.404644	0.62288	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08634	3.07;3.07	4.84	3.79	0.43588	EF-hand-like domain (1);	0.000000	0.64402	D	0.000004	T	0.20455	0.0492	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.968;1.0	B;D	0.79108	0.398;0.992	T	0.00632	-1.1635	10	0.25751	T	0.34	-22.0086	10.8576	0.46808	0.0:0.9075:0.0:0.0925	.	632;784	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	H	632;784	ENSP00000379533:R632H;ENSP00000262726:R784H	ENSP00000262726:R784H	R	-	2	0	EFCAB6	42353774	0.267000	0.24122	0.956000	0.39512	0.567000	0.35839	0.569000	0.23638	2.497000	0.84241	0.563000	0.77884	CGC		0.433	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		T	44022441	C	T	44022441	3	4	120	1	0	0	0	0	1	0	0	0	4939	768	27	1	2206	1	EFCAB6	22	44022441	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09	6129286	44022441	7282125	52	6626											
FAM123B	139285	genome.wustl.edu	37	X	63412870	63412870	+	Silent	SNP	C	C	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chrX:63412870C>A	ENST00000330258.3	-	2	569	c.297G>T	c.(295-297)ctG>ctT	p.L99L	AMER1_ENST00000403336.1_Silent_p.L99L|AMER1_ENST00000374869.3_Silent_p.L99L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	99					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.L99L(1)									CTGCTTCACTCAGGCCATCGT	0.542																																																68	Whole gene deletion(67)|Substitution - coding silent(1)	kidney(65)|ovary(2)|large_intestine(1)	X											114	83	94					X																	63412870		2203	4300	6503	63329595	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.297G>T	X.37:g.63412870C>A			63329595	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																				0.542	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		A	63412870	C	A	63412870	2	1	120	1	0	0	0	0	0	0	0	1	5423	813	29	3		3	FAM123B	23	63412870	Silent	SNP	C	TCGA-13-1404-01A-01W-0494-09		63412870	91857690	53	6627											
ZNF275	10838	genome.wustl.edu	37	X	152612477	152612477	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1404-01A-01W-0494-09	TCGA-13-1404-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	692e4b24-daf0-4771-b4a6-b0599f122ad8	7387defb-bc6c-4662-81bb-1fb2abb1207d	g.chrX:152612477C>A	ENST00000421401.3	+	4	511	c.334C>A	c.(334-336)Ctt>Att	p.L112I	ZNF275_ENST00000440091.1_Missense_Mutation_p.L142I|ZNF275_ENST00000370251.3_Missense_Mutation_p.L112I|ZNF275_ENST00000370249.2_Missense_Mutation_p.L59I			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L59I(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTTTCGGCTTAAAGTCCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	X											68	72	70					X																	152612477		2108	4214	6322	152265671	SO:0001583	missense	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.334C>A	X.37:g.152612477C>A	ENSP00000398977:p.Leu112Ile		152265671	A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37		.	.	.	.	.	.	.	.	.	.	C	11.95	1.792637	0.31685	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.75	3.88	0.44766	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.37178	N	0.002208	T	0.36635	0.0974	L	0.29908	0.895	0.09310	N	1	D;D	0.58268	0.982;0.982	P;P	0.60236	0.76;0.871	T	0.11792	-1.0573	10	0.37606	T	0.19	-24.4642	11.8706	0.52519	0.0:0.8267:0.1733:0.0	.	112;112	Q9NSD4;A6NFS0	ZN275_HUMAN;.	I	112;112;142;59	ENSP00000359271:L112I;ENSP00000398977:L112I;ENSP00000411097:L142I;ENSP00000359269:L59I	ENSP00000359269:L59I	L	+	1	0	ZNF275	152265671	0.000000	0.05858	0.038000	0.18304	0.929000	0.56500	0.036000	0.13819	1.115000	0.41800	0.513000	0.50165	CTT		0.542	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		A	152612477	C	A	152612477	3	1	120	1	0	0	0	0	1	0	0	0	17810	797	28	3	344	3	ZNF275	23	152612477	Missense_Mutation	SNP	C	TCGA-13-1404-01A-01W-0494-09	89199607	152612477	2658083	54	6628											
ZCCHC11	23318	genome.wustl.edu	37	1	52941173	52941173	+	Silent	SNP	G	G	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr1:52941173G>A	ENST00000371544.3	-	13	2320	c.2058C>T	c.(2056-2058)agC>agT	p.S686S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.S686S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	686					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.S686S(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGCTGTTTAAGCTCCGTGCAA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	1											39	36	37					1																	52941173		2203	4300	6503	52713761	SO:0001819	synonymous_variant	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2058C>T	1.37:g.52941173G>A			52713761	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	CCDS30716.1																																																																																				0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		A	52941173	G	A	52941173	2	1	121	1	0	0	0	0	0	0	0	1	17580	962	34	2		2	ZCCHC11	1	52941173	Silent	SNP	G	TCGA-13-1405-01A-01W-0494-09		52941173	196309448	1	6629											
GBP1	2633	genome.wustl.edu	37	1	89522551	89522551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr1:89522551G>A	ENST00000370473.4	-	7	1360	c.1141C>T	c.(1141-1143)Caa>Taa	p.Q381*	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	381					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.Q381*(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AACTCCTTTTGAAATAGATGG	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	1											91	95	94					1																	89522551		2202	4300	6502	89295139	SO:0001587	stop_gained	2633			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1141C>T	1.37:g.89522551G>A	ENSP00000359504:p.Gln381*		89295139	D3DT26|Q5T8M1	Nonsense_Mutation	SNP	ENST00000370473.4	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	G	39	7.444244	0.98289	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	.	.	.	4.8	2.85	0.33270	.	0.136177	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.6004	0.50999	0.0:0.0:0.6779:0.3221	.	.	.	.	X	381;344	.	ENSP00000359504:Q381X	Q	-	1	0	GBP1	89295139	0.955000	0.32602	0.047000	0.18901	0.409000	0.31022	3.866000	0.56040	0.391000	0.25143	0.491000	0.48974	CAA		0.418	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		A	89522551	G	A	89522551	4	1	121	1	0	0	0	0	0	1	0	0	6273	1299	45	2	657	2	GBP1	1	89522551	Nonsense_Mutation	SNP	G	TCGA-13-1405-01A-01W-0494-09	36581378	89522551	159728070	2	6630											
AGL	178	genome.wustl.edu	37	1	100349684	100349684	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr1:100349684G>A	ENST00000294724.4	+	18	2795	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	AGL_ENST00000361522.4_Missense_Mutation_p.E756K|AGL_ENST00000361302.3_Missense_Mutation_p.E757K|AGL_ENST00000370163.3_Missense_Mutation_p.E773K|AGL_ENST00000370161.2_Missense_Mutation_p.E757K|AGL_ENST00000370165.3_Missense_Mutation_p.E773K|AGL_ENST00000361915.3_Missense_Mutation_p.E773K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	773					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.E773K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGGCAAAATTGAAGAAGTAGT	0.308																																																1	Substitution - Missense(1)	ovary(1)	1											76	82	80					1																	100349684		2203	4297	6500	100122272	SO:0001583	missense	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2317G>A	1.37:g.100349684G>A	ENSP00000294724:p.Glu773Lys		100122272	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367703	0.61513	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.40543	1.245	0.80722	D	1	B;B;B	0.21381	0.055;0.055;0.032	B;B;B	0.21917	0.037;0.037;0.027	T	0.10613	-1.0622	10	0.08179	T	0.78	.	20.0425	0.97596	0.0:0.0:1.0:0.0	.	756;757;773	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	K	773;773;773;773;757;757;756	ENSP00000355106:E773K;ENSP00000359184:E773K;ENSP00000359182:E773K;ENSP00000294724:E773K;ENSP00000354971:E757K;ENSP00000359180:E757K;ENSP00000354635:E756K	ENSP00000294724:E773K	E	+	1	0	AGL	100122272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.745000	0.94114	0.650000	0.86243	GAA		0.308	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		A	100349684	G	A	100349684	3	1	121	1	0	0	0	0	1	0	0	0	384	1291	45	2	2452	2	AGL	1	100349684	Missense_Mutation	SNP	G	TCGA-13-1405-01A-01W-0494-09	10827133	100349684	148900937	3	6631											
OLFM3	118427	genome.wustl.edu	37	1	102269828	102269828	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr1:102269828A>C	ENST00000338858.5	-	6	1402	c.1403T>G	c.(1402-1404)cTt>cGt	p.L468R	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.L448R|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	468	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.L448R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATATGGAAAAGGGTGACATT	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											129	122	124					1																	102269828		2203	4300	6503	102042416	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1403T>G	1.37:g.102269828A>C	ENSP00000345192:p.Leu468Arg		102042416	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	A	18.62	3.663194	0.67700	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.90900	-2.75;-2.75	5.47	5.47	0.80525	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95506	0.8540	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.996;0.998	D	0.96355	0.9261	10	0.87932	D	0	.	15.8388	0.78824	1.0:0.0:0.0:0.0	.	448;468	Q5T3V6;Q96PB7	.;NOE3_HUMAN	R	448;468	ENSP00000359121:L448R;ENSP00000345192:L468R	ENSP00000345192:L468R	L	-	2	0	OLFM3	102042416	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.910000	0.92685	2.202000	0.70862	0.528000	0.53228	CTT		0.403	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			C	102269828	A	C	102269828	3	2	121	1	0	0	0	0	1	0	0	0	10854	72	3	5	37	5	OLFM3	1	102269828	Missense_Mutation	SNP	A	TCGA-13-1405-01A-01W-0494-09	1920144	102269828	146980793	4	6632											
ACP6	51205	genome.wustl.edu	37	1	147126379	147126380	+	Frame_Shift_Ins	INS	-	-	A	rs587742332		TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr1:147126379_147126380insA	ENST00000369238.6	-	6	1156_1157	c.709_710insT	c.(709-711)gacfs	p.D237fs	ACP6_ENST00000392988.2_Frame_Shift_Ins_p.D237fs	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	237					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.D237fs*6(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GCCCATCCTGTCCTTCACCTTT	0.48																																																1	Insertion - Frameshift(1)	ovary(1)	1																																								145593004	SO:0001589	frameshift_variant	51205			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.709_710insT	1.37:g.147126379_147126380insA	ENSP00000358241:p.Asp237fs		145593003	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Frame_Shift_Ins	INS	ENST00000369238.6	37	CCDS928.1																																																																																				0.48	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		A	147126380	-	A	147126379	7	5	121	1	0	1	1	0	0	0	0	0	165	1667	58	0	596	0	ACP6	1	147126379	Frame_Shift_Ins	INS	-	TCGA-13-1405-01A-01W-0494-09	44856551	147126379	102124242	5	6633	17	2									
ACP6	51205	genome.wustl.edu	37	1	147126384	147126384	+	Silent	SNP	C	C	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr1:147126384C>A	ENST00000369238.6	-	6	1152	c.705G>T	c.(703-705)gtG>gtT	p.V235V	ACP6_ENST00000392988.2_Silent_p.V235V	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	235					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.V235V(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCCTGTCCTTCACCTTTTTCA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	1											147	123	131					1																	147126384		2203	4300	6503	145593008	SO:0001819	synonymous_variant	51205			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.705G>T	1.37:g.147126384C>A			145593008	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Silent	SNP	ENST00000369238.6	37	CCDS928.1																																																																																				0.478	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		A	147126384	C	A	147126384	2	1	121	1	0	0	0	0	0	0	0	1	165	813	29	3		3	ACP6	1	147126384	Silent	SNP	C	TCGA-13-1405-01A-01W-0494-09	5	147126384	102124237	6	6634	17	2									
OR6N1	128372	genome.wustl.edu	37	1	158735656	158735656	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr1:158735656C>A	ENST00000335094.2	-	1	836	c.817G>T	c.(817-819)Gcc>Tcc	p.A273S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A273S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ACTGCCAGGGCCTGGTCATAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											182	171	175					1																	158735656		2203	4300	6503	157002280	SO:0001583	missense	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.817G>T	1.37:g.158735656C>A	ENSP00000335535:p.Ala273Ser		157002280	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092977	0.20471	.	.	ENSG00000197403	ENST00000335094	T	0.00145	8.67	4.94	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.148945	0.31156	N	0.008151	T	0.00039	0.0001	L	0.40543	1.245	0.09310	N	1	B	0.22983	0.078	B	0.23275	0.045	T	0.45440	-0.9261	10	0.72032	D	0.01	-16.2982	3.839	0.08906	0.1722:0.5746:0.166:0.0873	.	273	Q8NGY5	OR6N1_HUMAN	S	273	ENSP00000335535:A273S	ENSP00000335535:A273S	A	-	1	0	OR6N1	157002280	0.000000	0.05858	0.960000	0.40013	0.662000	0.39071	-0.835000	0.04386	1.268000	0.44264	0.655000	0.94253	GCC		0.527	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		A	158735656	C	A	158735656	3	1	121	1	0	0	0	0	1	0	0	0	11206	739	26	3	124	3	OR6N1	1	158735656	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09	11609272	158735656	90514965	7	6635											
GPR75	10936	genome.wustl.edu	37	2	54080567	54080567	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr2:54080567C>A	ENST00000394705.2	-	2	1597	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	443					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.D443Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAAGCCTGGTCCACAAATTTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											119	113	115					2																	54080567		2203	4300	6503	53934071	SO:0001583	missense	10936			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1327G>T	2.37:g.54080567C>A	ENSP00000378195:p.Asp443Tyr		53934071	B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685480	0.68157	.	.	ENSG00000119737	ENST00000394705	T	0.37584	1.19	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.66337	-0.5949	9	0.87932	D	0	-16.6563	18.82	0.92092	0.0:1.0:0.0:0.0	.	443	O95800	GPR75_HUMAN	Y	443	ENSP00000378195:D443Y	ENSP00000378195:D443Y	D	-	1	0	GPR75	53934071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.189000	0.77747	2.756000	0.94617	0.561000	0.74099	GAC		0.468	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			A	54080567	C	A	54080567	3	1	121	1	0	0	0	0	1	0	0	0	6708	855	30	3	299	3	GPR75	2	54080567	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09		54080567	189118806	8	6636											
EPHA3	2042	genome.wustl.edu	37	3	89259500	89259500	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr3:89259500C>T	ENST00000336596.2	+	3	869	c.644C>T	c.(643-645)aCg>aTg	p.T215M	EPHA3_ENST00000452448.2_Missense_Mutation_p.T215M|EPHA3_ENST00000494014.1_Missense_Mutation_p.T215M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	215	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T215M(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTCCAGACACGGTACCCATG	0.473										TSP Lung(6;0.00050)																																						1	Substitution - Missense(1)	ovary(1)	3											136	131	133					3																	89259500		2203	4300	6503	89342190	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.644C>T	3.37:g.89259500C>T	ENSP00000337451:p.Thr215Met		89342190	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523630	0.85600	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.78126	-1.15;2.24;-1.14	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.93335	0.6704	9	.	.	.	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	215;215	P29320;P29320-2	EPHA3_HUMAN;.	M	215	ENSP00000337451:T215M;ENSP00000399926:T215M;ENSP00000419190:T215M	.	T	+	2	0	EPHA3	89342190	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.798000	0.96311	0.655000	0.94253	ACG		0.473	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		T	89259500	C	T	89259500	3	4	121	1	0	0	0	0	1	0	0	0	5168	536	19	1	654	1	EPHA3	3	89259500	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09		89259500	108762930	9	6637											
KIAA1407	57577	genome.wustl.edu	37	3	113737638	113737638	+	Silent	SNP	C	C	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr3:113737638C>A	ENST00000295878.3	-	8	1196	c.1050G>T	c.(1048-1050)ctG>ctT	p.L350L	KIAA1407_ENST00000545063.1_Silent_p.L181L	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	350								p.L350L(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCCAGTCAGACAGGGTCCCAG	0.483																																																1	Substitution - coding silent(1)	ovary(1)	3											224	232	229					3																	113737638		2203	4300	6503	115220328	SO:0001819	synonymous_variant	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1050G>T	3.37:g.113737638C>A			115220328	B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	CCDS2977.1																																																																																				0.483	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		A	113737638	C	A	113737638	2	1	121	1	0	0	0	0	0	0	0	1	8229	465	17	3		3	KIAA1407	3	113737638	Silent	SNP	C	TCGA-13-1405-01A-01W-0494-09	24478138	113737638	84284792	10	6638											
SCFD2	152579	genome.wustl.edu	37	4	54231616	54231616	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr4:54231616G>A	ENST00000401642.3	-	1	626	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	SCFD2_ENST00000388940.4_Missense_Mutation_p.P165S	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	165					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.P165S(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCAAAGTGGGGAGCAACAGGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	4											86	73	78					4																	54231616		2203	4300	6503	53926373	SO:0001583	missense	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.493C>T	4.37:g.54231616G>A	ENSP00000384182:p.Pro165Ser		53926373	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.811012	0.00600	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.43688	0.94;0.94	5.51	2.82	0.32997	.	0.250201	0.40554	N	0.001076	T	0.22820	0.0551	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.003	T	0.25187	-1.0139	10	0.08837	T	0.75	.	7.3028	0.26430	0.1591:0.1517:0.6892:0.0	.	165;165	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	S	165	ENSP00000384182:P165S;ENSP00000373592:P165S	ENSP00000373592:P165S	P	-	1	0	SCFD2	53926373	0.998000	0.40836	0.048000	0.18961	0.323000	0.28346	2.709000	0.47160	0.412000	0.25729	0.561000	0.74099	CCC		0.562	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		A	54231616	G	A	54231616	3	1	121	1	0	0	0	0	1	0	0	0	13893	1174	41	2	1597	2	SCFD2	4	54231616	Missense_Mutation	SNP	G	TCGA-13-1405-01A-01W-0494-09		54231616	136922660	11	6639											
CENPE	1062	genome.wustl.edu	37	4	104037760	104037760	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr4:104037760C>T	ENST00000265148.3	-	45	7505	c.7416G>A	c.(7414-7416)atG>atA	p.M2472I	CENPE_ENST00000380026.3_Missense_Mutation_p.M2351I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2472	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.M2435I(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGCATTTTTCATTTTCTCTA	0.264																																																1	Substitution - Missense(1)	ovary(1)	4											59	59	59					4																	104037760		2201	4293	6494	104257209	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7416G>A	4.37:g.104037760C>T	ENSP00000265148:p.Met2472Ile		104257209	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844399	0.32606	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.66638	-0.22;-0.21	5.2	3.44	0.39384	.	.	.	.	.	T	0.44664	0.1304	N	0.19112	0.55	0.20489	N	0.999893	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.28170	-1.0052	9	0.08837	T	0.75	.	6.3892	0.21577	0.1927:0.7136:0.0:0.0937	.	2351;2472	Q02224-3;Q02224	.;CENPE_HUMAN	I	2472;2351	ENSP00000265148:M2472I;ENSP00000369365:M2351I	ENSP00000265148:M2472I	M	-	3	0	CENPE	104257209	0.696000	0.27757	0.156000	0.22583	0.995000	0.86356	2.492000	0.45311	0.551000	0.29008	0.655000	0.94253	ATG		0.264	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	104037760	C	T	104037760	3	4	121	1	0	0	0	0	1	0	0	0	3230	826	29	2	709	2	CENPE	4	104037760	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09	49806144	104037760	87116516	12	6640											
TNXB	7148	genome.wustl.edu	37	6	32035624	32035624	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr6:32035624C>A	ENST00000375244.3	-	18	6559	c.6358G>T	c.(6358-6360)Ggc>Tgc	p.G2120C	TNXB_ENST00000375247.2_Missense_Mutation_p.G2120C			P22105	TENX_HUMAN	tenascin XB	2192	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.G2207C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCGAAGCGGCCCTGGGGGACG	0.687																																																1	Substitution - Missense(1)	ovary(1)	6																																								32143602	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6358G>T	6.37:g.32035624C>A	ENSP00000364393:p.Gly2120Cys		32143602	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.029589	0.75504	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.07908	3.15;3.15	4.58	4.58	0.56647	.	0.000000	0.41938	D	0.000799	T	0.29321	0.0730	M	0.93420	3.415	0.34968	D	0.752839	D	0.89917	1.0	D	0.97110	1.0	T	0.48445	-0.9035	10	0.66056	D	0.02	.	14.2806	0.66208	0.0:1.0:0.0:0.0	.	2120	P22105-3	.	C	2120	ENSP00000364393:G2120C;ENSP00000364396:G2120C	ENSP00000364393:G2120C	G	-	1	0	TNXB	32143602	0.978000	0.34361	1.000000	0.80357	0.992000	0.81027	4.806000	0.62569	2.077000	0.62373	0.462000	0.41574	GGC		0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32035624	C	A	32035624	3	1	121	1	0	0	0	0	1	0	0	0	16346	623	22	3	8463	3	TNXB	6	32035624	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09		32035624	139079443	13	6641											
GIMAP8	155038	genome.wustl.edu	37	7	150174229	150174229	+	Silent	SNP	G	G	A	rs376371559		TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr7:150174229G>A	ENST00000307271.3	+	5	1933	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	453	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.A453A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGAAGAGTGCGACCGGGAACT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	7						G		0,4406		0,0,2203	72	75	74		1359	-8.9	0	7		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GIMAP8	NM_175571.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		453/666	150174229	1,13005	2203	4300	6503	149805162	SO:0001819	synonymous_variant	155038			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1359G>A	7.37:g.150174229G>A			149805162		Silent	SNP	ENST00000307271.3	37	CCDS34777.1																																																																																				0.577	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		A	150174229	G	A	150174229	2	1	121	1	0	0	0	0	0	0	0	1	6385	1045	37	1		1	GIMAP8	7	150174229	Silent	SNP	G	TCGA-13-1405-01A-01W-0494-09		150174229	8964434	14	6642											
IPPK	64768	genome.wustl.edu	37	9	95400509	95400509	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr9:95400509C>G	ENST00000287996.3	-	9	966	c.690G>C	c.(688-690)tgG>tgC	p.W230C	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	230					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)	p.W230C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CAAGCTCGCTCCAGTCAGCCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	9											71	74	73					9																	95400509		2203	4300	6503	94440330	SO:0001583	missense	64768			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.690G>C	9.37:g.95400509C>G	ENSP00000287996:p.Trp230Cys		94440330	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398328	0.42512	.	.	ENSG00000127080	ENST00000287996	T	0.29917	1.55	4.99	4.99	0.66335	.	0.468554	0.23422	N	0.048351	T	0.24851	0.0603	N	0.19112	0.55	0.80722	D	1	B	0.33826	0.427	B	0.40565	0.333	T	0.06373	-1.0830	10	0.37606	T	0.19	-4.1635	12.0757	0.53643	0.0:0.9204:0.0:0.0796	.	230	Q9H8X2	IPPK_HUMAN	C	230	ENSP00000287996:W230C	ENSP00000287996:W230C	W	-	3	0	IPPK	94440330	1.000000	0.71417	0.930000	0.37139	0.840000	0.47671	3.391000	0.52530	2.486000	0.83907	0.313000	0.20887	TGG		0.582	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		G	95400509	C	G	95400509	3	3	121	1	0	0	0	0	1	0	0	0	7801	856	30	3	805	3	IPPK	9	95400509	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09		95400509	45812922	15	6643											
AGAP4	119016	genome.wustl.edu	37	10	46321476	46321476	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr10:46321476C>T	ENST00000448048.2	-	7	2004	c.1879G>A	c.(1879-1881)Gtc>Atc	p.V627I	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	627					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V627I(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						CGGGCCATGACGTCCACCCCG	0.672																																																1	Substitution - Missense(1)	ovary(1)	10											1	1	1					10																	46321476		214	382	596	45641482	SO:0001583	missense	119016			AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23459	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 1", "ArfGAP with GTPase domain, ankyrin repeat and PH domain 8", "centaurin, gamma-like family, member 5"	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1879G>A	10.37:g.46321476C>T	ENSP00000392513:p.Val627Ile		45641482		Missense_Mutation	SNP	ENST00000448048.2	37	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	c	2.318	-0.356320	0.05138	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.65916	-0.18	.	.	.	Ankyrin repeat-containing domain (4);	0.223555	0.38436	N	0.001698	T	0.39306	0.1073	N	0.17922	0.545	0.24802	N	0.992697	B;B	0.12630	0.006;0.003	B;B	0.16289	0.015;0.01	T	0.15263	-1.0443	9	0.33141	T	0.24	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	650;627	C9JRW4;Q96P64	.;AGAP4_HUMAN	I	627;403	ENSP00000392513:V627I	ENSP00000343438:V403I	V	-	1	0	AGAP4	45641482	0.956000	0.32656	0.271000	0.24616	0.274000	0.26718	0.179000	0.16840	0.107000	0.17824	0.109000	0.15622	GTC		0.672	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		T	46321476	C	T	46321476	3	4	121	1	0	0	0	0	1	0	0	0	370	536	19	1	116	1	AGAP4	10	46321476	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09		46321476	89213271	16	6644											
OLFML1	283298	genome.wustl.edu	37	11	7530967	7530967	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr11:7530967C>G	ENST00000329293.3	+	3	1151	c.757C>G	c.(757-759)Cca>Gca	p.P253A	OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.P253A|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	253	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)		p.P253A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AATGCTGCTCCCAGGAGGGGT	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											50	48	48					11																	7530967		2201	4296	6497	7487543	SO:0001583	missense	283298			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.757C>G	11.37:g.7530967C>G	ENSP00000332511:p.Pro253Ala		7487543	B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147314	0.37923	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.89485	-2.52;-2.52	5.66	2.77	0.32553	Olfactomedin-like (3);	0.422169	0.25436	N	0.030694	D	0.84906	0.5576	L	0.44542	1.39	0.80722	D	1	B;P	0.36683	0.045;0.565	B;B	0.40825	0.035;0.341	T	0.80979	-0.1140	10	0.66056	D	0.02	.	8.4126	0.32653	0.0:0.7364:0.0:0.2636	.	117;253	B4DN61;Q6UWY5	.;OLFL1_HUMAN	A	253	ENSP00000433455:P253A;ENSP00000332511:P253A	ENSP00000332511:P253A	P	+	1	0	OLFML1	7487543	0.999000	0.42202	0.784000	0.31847	0.900000	0.52787	2.964000	0.49192	0.320000	0.23234	-0.253000	0.11424	CCA		0.483	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		G	7530967	C	G	7530967	3	3	121	1	0	0	0	0	1	0	0	0	10856	623	22	3	767	3	OLFML1	11	7530967	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09		7530967	127475549	17	6645											
CAPRIN1	4076	genome.wustl.edu	37	11	34098146	34098146	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr11:34098146G>T	ENST00000341394.4	+	6	834	c.645G>T	c.(643-645)tgG>tgT	p.W215C	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.W215C|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.W215C|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.W134C|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.W215C	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	215					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.W215C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TTCACCTGTGGGACCTGCTGG	0.343																																																1	Substitution - Missense(1)	ovary(1)	11											87	92	90					11																	34098146		2202	4298	6500	34054722	SO:0001583	missense	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.645G>T	11.37:g.34098146G>T	ENSP00000340329:p.Trp215Cys		34054722	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589010	0.86851	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.971;0.987	T	0.54159	-0.8335	10	0.45353	T	0.12	.	19.9859	0.97351	0.0:0.0:1.0:0.0	.	215;215	Q14444;Q14444-2	CAPR1_HUMAN;.	C	215;215;215;215;134	ENSP00000340329:W215C;ENSP00000374296:W215C;ENSP00000434150:W215C;ENSP00000434204:W215C;ENSP00000431581:W134C	ENSP00000340329:W215C	W	+	3	0	CAPRIN1	34054722	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.366000	0.97143	2.729000	0.93468	0.655000	0.94253	TGG		0.343	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		T	34098146	G	T	34098146	3	4	121	1	0	0	0	0	1	0	0	0	2635	1241	43	3	663	3	CAPRIN1	11	34098146	Missense_Mutation	SNP	G	TCGA-13-1405-01A-01W-0494-09	26567179	34098146	100908370	18	6646											
OR8H3	390152	genome.wustl.edu	37	11	55890368	55890368	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr11:55890368A>T	ENST00000313472.3	+	1	520	c.520A>T	c.(520-522)Att>Ttt	p.I174F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I174F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTCAAACATAATTCATCACTT	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											252	225	234					11																	55890368		2201	4296	6497	55646944	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.520A>T	11.37:g.55890368A>T	ENSP00000323928:p.Ile174Phe		55646944	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683733	0.29872	.	.	ENSG00000181761	ENST00000313472	T	0.00216	8.53	3.62	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.131866	0.36200	N	0.002737	T	0.00754	0.0025	H	0.97491	4.015	0.09310	N	0.999996	D	0.54397	0.966	D	0.66979	0.948	T	0.28808	-1.0032	10	0.87932	D	0	.	7.5883	0.28006	0.7341:0.0:0.2659:0.0	.	174	Q8N146	OR8H3_HUMAN	F	174	ENSP00000323928:I174F	ENSP00000323928:I174F	I	+	1	0	OR8H3	55646944	0.287000	0.24315	0.033000	0.17914	0.377000	0.30045	0.993000	0.29680	0.411000	0.25702	0.145000	0.16022	ATT		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		T	55890368	A	T	55890368	3	4	121	1	0	0	0	0	1	0	0	0	11239	101	4	5	522	5	OR8H3	11	55890368	Missense_Mutation	SNP	A	TCGA-13-1405-01A-01W-0494-09	21792222	55890368	79116148	19	6647											
PAX9	5083	genome.wustl.edu	37	14	37132540	37132540	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr14:37132540C>T	ENST00000361487.6	+	2	668	c.443C>T	c.(442-444)cCg>cTg	p.P148L	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.P148L			P55771	PAX9_HUMAN	paired box 9	148					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.P148L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CAGCACCAGCCGACGCCGCAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	14											58	50	53					14																	37132540		2203	4300	6503	36202291	SO:0001583	missense	5083			AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.443C>T	14.37:g.37132540C>T	ENSP00000355245:p.Pro148Leu		36202291	Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672835	0.67928	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	D;D	0.98901	-5.22;-5.22	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.97278	0.9110	M	0.66939	2.045	0.80722	D	1	P	0.48998	0.918	B	0.36378	0.223	D	0.97585	1.0113	10	0.45353	T	0.12	.	18.8295	0.92132	0.0:1.0:0.0:0.0	.	148	P55771	PAX9_HUMAN	L	148	ENSP00000384817:P148L;ENSP00000355245:P148L	ENSP00000355245:P148L	P	+	2	0	PAX9	36202291	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	4.748000	0.62148	2.445000	0.82738	0.561000	0.74099	CCG		0.642	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			T	37132540	C	T	37132540	3	4	121	1	0	0	0	0	1	0	0	0	11486	652	23	1	449	1	PAX9	14	37132540	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09		37132540	70217000	20	6648											
FSCB	84075	genome.wustl.edu	37	14	44974063	44974063	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr14:44974063C>G	ENST00000340446.4	-	1	2419	c.2128G>C	c.(2128-2130)Gaa>Caa	p.E710Q	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	710						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E710Q(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAGGCCTCTTCTGCAGGGACA	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											44	49	47					14																	44974063		2203	4300	6503	44043813	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2128G>C	14.37:g.44974063C>G	ENSP00000344579:p.Glu710Gln		44043813	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405742	0.42715	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15139	2.45	4.62	0.486	0.16836	.	.	.	.	.	T	0.27489	0.0675	L	0.61218	1.895	0.09310	N	1	D	0.65815	0.995	P	0.61592	0.891	T	0.12167	-1.0558	9	0.33940	T	0.23	-1.4674	3.8412	0.08915	0.1602:0.4799:0.0:0.3599	.	710	Q5H9T9	FSCB_HUMAN	Q	710;603	ENSP00000344579:E710Q	ENSP00000344579:E710Q	E	-	1	0	FSCB	44043813	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.752000	0.26362	-0.007000	0.14345	0.555000	0.69702	GAA		0.537	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		G	44974063	C	G	44974063	3	3	121	1	0	0	0	0	1	0	0	0	6066	922	32	3	353	3	FSCB	14	44974063	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09	7841523	44974063	62375477	21	6649											
NIN	51199	genome.wustl.edu	37	14	51221340	51221340	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr14:51221340C>T	ENST00000382041.3	-	20	4865	c.4675G>A	c.(4675-4677)Gaa>Aaa	p.E1559K	NIN_ENST00000453196.1_Missense_Mutation_p.E1559K|NIN_ENST00000382043.4_Missense_Mutation_p.E846K|NIN_ENST00000530997.2_Missense_Mutation_p.E1559K|NIN_ENST00000245441.5_Missense_Mutation_p.E1559K|NIN_ENST00000324330.9_Missense_Mutation_p.E1559K|NIN_ENST00000389868.3_Missense_Mutation_p.E846K	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1559					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.E1565K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTTACAGTTTCCGTTTTTTGC	0.279			T	PDGFRB	MPD																																		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	1	Substitution - Missense(1)	ovary(1)	14											70	67	68					14																	51221340		2198	4295	6493	50291090	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4675G>A	14.37:g.51221340C>T	ENSP00000371472:p.Glu1559Lys		50291090	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.60|15.60	2.881229|2.881229	0.51801|0.51801	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.22945|.	2.87;1.93;1.96;2.58;2.55;2.58|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.119645|.	0.56097|.	D|.	0.000028|.	T|T	0.69187|0.69187	0.3083|0.3083	M|M	0.66939|0.66939	2.045|2.045	0.35047|0.35047	D|D	0.760274|0.760274	D;D;P;D;P|.	0.69078|.	0.983;0.983;0.882;0.997;0.882|.	P;P;P;P;P|.	0.60789|.	0.879;0.879;0.6;0.779;0.6|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.38643|.	T|.	0.18|.	-14.6585|-14.6585	16.7287|16.7287	0.85430|0.85430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1565;1559;1559;846;1559|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	K|E	1559;1542;846;846;1565;1559;1559;1559|1049	ENSP00000245441:E1559K;ENSP00000374518:E846K;ENSP00000371474:E846K;ENSP00000371472:E1559K;ENSP00000324210:E1559K;ENSP00000412391:E1559K|.	ENSP00000245441:E1559K|.	E|G	-|-	1|2	0|0	NIN|NIN	50291090|50291090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.583000|0.583000	0.36354|0.36354	3.849000|3.849000	0.55910|0.55910	2.364000|2.364000	0.80123|0.80123	0.563000|0.563000	0.77884|0.77884	GAA|GGA		0.279	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51221340	C	T	51221340	3	4	121	1	0	0	0	0	1	0	0	0	10417	864	30	2	1922	2	NIN	14	51221340	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09	6247277	51221340	56128200	22	6650											
SYNE2	23224	genome.wustl.edu	37	14	64457275	64457275	+	Silent	SNP	A	A	G			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr14:64457275A>G	ENST00000344113.4	+	20	2672	c.2460A>G	c.(2458-2460)aaA>aaG	p.K820K	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.K820K|SYNE2_ENST00000554584.1_Silent_p.K820K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	820					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K820K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGAAGCTAAAGAGAAAGTCC	0.413																																																1	Substitution - coding silent(1)	ovary(1)	14											90	87	88					14																	64457275		1830	4085	5915	63527028	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2460A>G	14.37:g.64457275A>G			63527028	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.413	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64457275	A	G	64457275	2	3	121	1	0	0	0	0	0	0	0	1	15446	69	3	4		4	SYNE2	14	64457275	Silent	SNP	A	TCGA-13-1405-01A-01W-0494-09	13235935	64457275	42892265	23	6651											
SF3B3	23450	genome.wustl.edu	37	16	70575628	70575628	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr16:70575628C>T	ENST00000302516.5	+	9	1335	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	375					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.S375L(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAGTTTTCATCAGCCATGCCT	0.433																																																1	Substitution - Missense(1)	ovary(1)	16											206	202	203					16																	70575628		2198	4300	6498	69133129	SO:0001583	missense	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1124C>T	16.37:g.70575628C>T	ENSP00000305790:p.Ser375Leu		69133129	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442068	0.96187	.	.	ENSG00000189091	ENST00000302516	T	0.37058	1.22	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	H	0.94503	3.545	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.78597	-0.2142	10	0.52906	T	0.07	.	19.6425	0.95763	0.0:1.0:0.0:0.0	.	375	Q15393	SF3B3_HUMAN	L	375	ENSP00000305790:S375L	ENSP00000305790:S375L	S	+	2	0	SF3B3	69133129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.713000	0.92767	0.655000	0.94253	TCA		0.433	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		T	70575628	C	T	70575628	3	4	121	1	0	0	0	0	1	0	0	0	14155	838	29	2	1154	2	SF3B3	16	70575628	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09		70575628	19779125	24	6652											
TP53	7157	genome.wustl.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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"	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	17	GRCh37	CM941329	TP53	M							102	91	94					17																	7578263		2203	4300	6503	7518988	SO:0001587	stop_gained	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		7518988	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578263	G	A	7578263	4	1	121	1	0	0	0	0	0	1	0	0	16381	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-13-1405-01A-01W-0494-09		7578263	73616947	25	6653											
MYO1D	4642	genome.wustl.edu	37	17	31082586	31082586	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr17:31082586C>A	ENST00000318217.5	-	11	1695	c.1391G>T	c.(1390-1392)gGc>gTc	p.G464V	MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000579584.1_Missense_Mutation_p.G464V|MYO1D_ENST00000394649.4_Missense_Mutation_p.G376V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	464	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.G464V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GGTGACTTTGCCGACATTCAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	17											143	117	126					17																	31082586		2203	4300	6503	28106699	SO:0001583	missense	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1391G>T	17.37:g.31082586C>A	ENSP00000324527:p.Gly464Val		28106699	A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918828	0.92249	.	.	ENSG00000176658	ENST00000318217	D	0.87256	-2.23	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.40302	U	0.001130	D	0.95598	0.8569	H	0.94345	3.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.96018	0.9007	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	375;464	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	464	ENSP00000324527:G464V	ENSP00000324527:G464V	G	-	2	0	MYO1D	28106699	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGC		0.418	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			A	31082586	C	A	31082586	3	1	121	1	0	0	0	0	1	0	0	0	10071	739	26	3	1677	3	MYO1D	17	31082586	Missense_Mutation	SNP	C	TCGA-13-1405-01A-01W-0494-09	23504323	31082586	50112624	26	6654											
IRGQ	126298	genome.wustl.edu	37	19	44099167	44099167	+	Silent	SNP	G	G	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr19:44099167G>A	ENST00000602269.1	-	1	509	c.324C>T	c.(322-324)acC>acT	p.T108T	SRRM5_ENST00000526798.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.T108T|ZNF576_ENST00000391965.2_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|SRRM5_ENST00000607544.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	108								p.T108T(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCAGTAGCGGGGTCCCTCGGG	0.692																																																1	Substitution - coding silent(1)	ovary(1)	19											22	27	25					19																	44099167		2202	4300	6502	48791007	SO:0001819	synonymous_variant	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.324C>T	19.37:g.44099167G>A			48791007	B2RNP3	Silent	SNP	ENST00000602269.1	37	CCDS33040.1																																																																																				0.692	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		A	44099167	G	A	44099167	2	1	121	1	0	0	0	0	0	0	0	1	7839	1219	43	2		2	IRGQ	19	44099167	Silent	SNP	G	TCGA-13-1405-01A-01W-0494-09		44099167	15029816	27	6655											
EML2	24139	genome.wustl.edu	37	19	46116930	46116930	+	Splice_Site	SNP	C	C	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr19:46116930C>T	ENST00000245925.3	-	18	1744		c.e18-1		EML2_ENST00000587152.1_Splice_Site|EML2_ENST00000589876.1_Splice_Site|EML2_ENST00000536630.1_Splice_Site	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2						negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GACCAGATCCCTGTGGGCAAG	0.552																																																1	Unknown(1)	ovary(1)	19											95	80	85					19																	46116930		2203	4300	6503	50808770	SO:0001630	splice_region_variant	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1694-1G>A	19.37:g.46116930C>T			50808770	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Splice_Site	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758273	0.31137	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8917	0.70614	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EML2	50808770	1.000000	0.71417	0.997000	0.53966	0.098000	0.18820	7.251000	0.78297	2.653000	0.90120	0.563000	0.77884	.		0.552	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	Intron	T	46116930	C	T	46116930	5	4	121	1	0	0	0	0	0	0	1	0	5097	695	24	2	264	2	EML2	19	46116930	Splice_Site	SNP	C	TCGA-13-1405-01A-01W-0494-09	2017763	46116930	13012053	28	6656											
SIGLEC11	114132	genome.wustl.edu	37	19	50461973	50461973	+	Silent	SNP	G	G	A	rs201076601		TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr19:50461973G>A	ENST00000447370.2	-	7	1380	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Silent_p.H430H	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	430	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.H418H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACTCTCCTTCGTGCTCCATTT	0.672													G|||	1	0.000199681	0	0	5008	,	,		15349	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19											71	69	69					19																	50461973		2203	4300	6503	55153785	SO:0001819	synonymous_variant	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1290C>T	19.37:g.50461973G>A			55153785		Silent	SNP	ENST00000447370.2	37	CCDS12790.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.784	-0.761104	0.02996	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.1	-6.2	0.02072	.	.	.	.	.	T	0.17746	0.0426	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05321	-1.0892	4	.	.	.	.	1.7087	0.02888	0.2173:0.1032:0.372:0.3075	.	.	.	.	M	420	.	.	T	-	2	0	SIGLEC11	55153785	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-2.290000	0.01148	-5.374000	0.00015	-2.985000	0.00079	ACG		0.672	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		A	50461973	G	A	50461973	2	1	121	1	0	0	0	0	0	0	0	1	14310	1136	40	1		1	SIGLEC11	19	50461973	Silent	SNP	G	TCGA-13-1405-01A-01W-0494-09	4345043	50461973	8667010	29	6657											
KIR2DL3	3804	genome.wustl.edu	37	19	55255434	55255434	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr19:55255434G>A	ENST00000342376.3	+	4	593	c.562G>A	c.(562-564)Ggc>Agc	p.G188S	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.G188S	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	188	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G188S(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTTTCCTCTGGGCCCTGCCAC	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											6	7	7					19																	55255434		877	1917	2794	59947246	SO:0001583	missense	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.562G>A	19.37:g.55255434G>A	ENSP00000342215:p.Gly188Ser		59947246	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323151	0.41096	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.12039	2.72;2.72	1.01	-2.01	0.07410	Immunoglobulin subtype (2);Immunoglobulin (2);Immunoglobulin-like fold (2);	.	.	.	.	T	0.21962	0.0529	L	0.46670	1.46	0.09310	N	1	B;B;D;D	0.60160	0.174;0.296;0.987;0.987	B;P;D;D	0.65573	0.203;0.486;0.936;0.936	T	0.13045	-1.0524	9	0.87932	D	0	.	4.7498	0.13056	0.5001:0.0:0.4999:0.0	.	188;188;188;188	E3NZD7;P43627;P43628;E3NZD8	.;KI2L2_HUMAN;KI2L3_HUMAN;.	S	188	ENSP00000342215:G188S;ENSP00000415758:G188S	ENSP00000342215:G188S	G	+	1	0	KIR2DL3	59947246	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	-0.019000	0.12546	-0.848000	0.04163	0.184000	0.17185	GGC		0.562	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			A	55255434	G	A	55255434	3	1	121	1	0	0	0	0	1	0	0	0	8317	1232	43	2	576	2	KIR2DL3	19	55255434	Missense_Mutation	SNP	G	TCGA-13-1405-01A-01W-0494-09	4793461	55255434	3873549	30	6658											
DEPDC5	9681	genome.wustl.edu	37	22	32253446	32253446	+	Silent	SNP	G	G	A			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chr22:32253446G>A	ENST00000382112.3	+	31	3214	c.3144G>A	c.(3142-3144)caG>caA	p.Q1048Q	DEPDC5_ENST00000382111.2_Silent_p.Q1057Q|DEPDC5_ENST00000400246.1_Silent_p.Q1057Q|DEPDC5_ENST00000400248.2_Silent_p.Q1048Q|DEPDC5_ENST00000382105.2_Silent_p.Q979Q|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000266091.3_Silent_p.Q1057Q|DEPDC5_ENST00000400249.2_Silent_p.Q1048Q|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Silent_p.Q979Q	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1057					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.Q1048Q(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGGAGAACAGCAGGCAGCTG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	22											32	34	33					22																	32253446		2116	4256	6372	30583446	SO:0001819	synonymous_variant	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3144G>A	22.37:g.32253446G>A			30583446	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	8.974	0.973787	0.18736	.	.	ENSG00000100150	ENST00000433147	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.74107	0.3673	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72769	-0.4193	4	.	.	.	.	17.8169	0.88637	0.0:0.0:1.0:0.0	.	.	.	.	T	455	.	.	A	+	1	0	DEPDC5	30583446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.437000	0.66544	2.618000	0.88619	0.563000	0.77884	GCA		0.582	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		A	32253446	G	A	32253446	2	1	121	1	0	0	0	0	0	0	0	1	4442	962	34	2		2	DEPDC5	22	32253446	Silent	SNP	G	TCGA-13-1405-01A-01W-0494-09		32253446	19051120	31	6659											
COL4A6	1288	genome.wustl.edu	37	X	107417827	107417827	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1405-01A-01W-0494-09	TCGA-13-1405-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c0d1de72-4cce-4d74-93f0-29c462dc1426	89f04056-0478-4305-b1ce-486ae469b4dd	g.chrX:107417827G>T	ENST00000372216.4	-	31	3084	c.2984C>A	c.(2983-2985)cCt>cAt	p.P995H	COL4A6_ENST00000545689.1_Missense_Mutation_p.P994H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P994H|COL4A6_ENST00000394872.2_Missense_Mutation_p.P995H|COL4A6_ENST00000334504.7_Missense_Mutation_p.P994H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	995	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P994H(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGGTGGTCCAGGTCGACCAGC	0.537									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - Missense(1)	ovary(1)	X											24	26	25					X																	107417827		2202	4299	6501	107304483	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2984C>A	X.37:g.107417827G>T	ENSP00000361290:p.Pro995His		107304483	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	2.440	-0.328832	0.05314	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96967	-3.75;-3.75;-4.19;-4.19;-4.19	5.03	3.23	0.37069	.	0.746506	0.11546	N	0.553265	D	0.95001	0.8382	M	0.75615	2.305	0.28058	N	0.933073	B;B;B;B	0.27498	0.148;0.148;0.106;0.18	B;B;B;B	0.32342	0.048;0.07;0.115;0.144	D	0.90823	0.4710	10	0.72032	D	0.01	.	5.4947	0.16795	0.0834:0.1842:0.6062:0.1262	.	994;994;995;994	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	H	995;994;995;994;994;994	ENSP00000361290:P995H;ENSP00000334733:P994H;ENSP00000378340:P995H;ENSP00000443707:P994H;ENSP00000445236:P994H	ENSP00000334733:P994H	P	-	2	0	COL4A6	107304483	1.000000	0.71417	0.029000	0.17559	0.185000	0.23345	2.703000	0.47110	0.580000	0.29522	0.594000	0.82650	CCT		0.537	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			T	107417827	G	T	107417827	3	4	121	1	0	0	0	0	1	0	0	0	3695	1000	35	3	2151	3	COL4A6	23	107417827	Missense_Mutation	SNP	G	TCGA-13-1405-01A-01W-0494-09		107417827	47852733	32	6660											
USP24	23358	hgsc.bcm.edu	37	1	55612632	55612632	+	Silent	SNP	A	A	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr1:55612632A>C	ENST00000294383.6	-	19	2219	c.2220T>G	c.(2218-2220)acT>acG	p.T740T	USP24_ENST00000407756.1_Silent_p.T580T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	740					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.T657T(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATCCTGGCCAGTTACAAGAC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	1											115	110	112					1																	55612632		1862	4105	5967	55385220	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2220T>G	1.37:g.55612632A>C			55385220	Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	CCDS44154.2																																																																																				0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			C	55612632	A	C	55612632	2	2	122	1	0	0	0	0	0	0	0	1	17055	175	7	5		5	USP24	1	55612632	Silent	SNP	A	TCGA-13-1407-01A-01W-0490-10		55612632	193637989	1	6661											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125281883	125281883	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr2:125281883G>A	ENST00000431078.1	+	9	1692	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	443	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S443N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTGCAGGCAGCAACTTGAAT	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											71	75	74					2																	125281883		2073	4223	6296	124998353	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1328G>A	2.37:g.125281883G>A	ENSP00000399013:p.Ser443Asn		124998353	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779469	0.49891	.	.	ENSG00000155052	ENST00000431078	T	0.78003	-1.14	5.94	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.104145	0.42548	D	0.000690	T	0.74512	0.3726	L	0.49350	1.555	0.26194	N	0.979542	P	0.40970	0.734	B	0.43575	0.424	T	0.65100	-0.6250	10	0.18276	T	0.48	.	15.6375	0.76966	0.0:0.354:0.646:0.0	.	443	Q8WYK1	CNTP5_HUMAN	N	443	ENSP00000399013:S443N	ENSP00000399013:S443N	S	+	2	0	CNTNAP5	124998353	0.968000	0.33430	0.998000	0.56505	0.983000	0.72400	1.710000	0.37920	1.504000	0.48704	0.650000	0.86243	AGC		0.552	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125281883	G	A	125281883	3	1	122	1	0	0	0	0	1	0	0	0	3650	971	34	2	1362	2	CNTNAP5	2	125281883	Missense_Mutation	SNP	G	TCGA-13-1407-01A-01W-0490-10		125281883	117917490	2	6662											
SCN5A	6331	hgsc.bcm.edu	37	3	38595909	38595909	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr3:38595909delG	ENST00000333535.4	-	27	4823	c.4674delC	c.(4672-4674)aacfs	p.N1558fs	SCN5A_ENST00000449557.2_Frame_Shift_Del_p.N1504fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.N1504fs|SCN5A_ENST00000413689.1_Frame_Shift_Del_p.N1558fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.N1557fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.N1540fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.N1557fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.N1557fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.N1540fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.N1504fs|SCN5A_ENST00000464652.1_5'UTR			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1558					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.N1558fs*73(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGCCAAGATGTTGATTTTCT	0.493																																																1	Deletion - Frameshift(1)	ovary(1)	3											177	190	186					3																	38595909		2116	4253	6369	38570913	SO:0001589	frameshift_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4674delC	3.37:g.38595909delG	ENSP00000328968:p.Asn1558fs		38570913	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	CCDS46796.1																																																																																				0.493	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		-	38595909	G	-	38595909	7	5	122	1	0	1	0	1	0	0	0	0	13925	1368	48	0	1384	0	SCN5A	3	38595909	Frame_Shift_Del	DEL	G	TCGA-13-1407-01A-01W-0490-10		38595909	159426521	3	6663											
PRKCI	5584	hgsc.bcm.edu	37	3	170013719	170013719	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr3:170013719C>T	ENST00000295797.4	+	15	1743	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R471C(3)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AAAACAAATTCGCATACCACG	0.274																																																3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	3											61	66	64					3																	170013719		2202	4298	6500	171496413	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1438C>T	3.37:g.170013719C>T	ENSP00000295797:p.Arg480Cys		171496413	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726514	0.69074	.	.	ENSG00000163558	ENST00000295797	T	0.53423	0.62	5.29	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099543	0.64402	D	0.000002	T	0.63486	0.2515	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.63010	-0.6732	9	.	.	.	.	15.8416	0.78848	0.1359:0.8641:0.0:0.0	.	480	P41743	KPCI_HUMAN	C	480	ENSP00000295797:R480C	.	R	+	1	0	PRKCI	171496413	0.997000	0.39634	0.997000	0.53966	0.999000	0.98932	2.225000	0.42954	2.621000	0.88768	0.655000	0.94253	CGC		0.274	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		T	170013719	C	T	170013719	3	4	122	1	0	0	0	0	1	0	0	0	12517	884	31	1	1496	1	PRKCI	3	170013719	Missense_Mutation	SNP	C	TCGA-13-1407-01A-01W-0490-10	131417810	170013719	28008711	4	6664											
DKK2	27123	hgsc.bcm.edu	37	4	107845721	107845721	+	Silent	SNP	A	A	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr4:107845721A>T	ENST00000285311.3	-	3	1215	c.510T>A	c.(508-510)acT>acA	p.T170T	DKK2_ENST00000510463.1_Silent_p.T124T|DKK2_ENST00000513208.1_Silent_p.T70T	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	170					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.T170T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTGACATCTTAGTGTGTGGTC	0.383																																																1	Substitution - coding silent(1)	ovary(1)	4											200	177	185					4																	107845721		2203	4300	6503	108065170	SO:0001819	synonymous_variant	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.510T>A	4.37:g.107845721A>T			108065170	A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	CCDS3675.1																																																																																				0.383	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			T	107845721	A	T	107845721	2	4	122	1	0	0	0	0	0	0	0	1	4545	407	15	5		5	DKK2	4	107845721	Silent	SNP	A	TCGA-13-1407-01A-01W-0490-10		107845721	83308555	5	6665											
SPEF2	79925	hgsc.bcm.edu	37	5	35644569	35644569	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr5:35644569A>G	ENST00000356031.3	+	4	681	c.527A>G	c.(526-528)gAg>gGg	p.E176G	SPEF2_ENST00000282469.6_Missense_Mutation_p.E176G|SPEF2_ENST00000509059.1_Missense_Mutation_p.E176G|SPEF2_ENST00000440995.2_Missense_Mutation_p.E176G	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	176					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E176G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGCATTTTGAGAAACTTGAA	0.313																																																2	Substitution - Missense(2)	ovary(2)	5											38	40	39					5																	35644569		2201	4297	6498	35680326	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.527A>G	5.37:g.35644569A>G	ENSP00000348314:p.Glu176Gly		35680326	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	8.334	0.827065	0.16749	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.43	5.43	0.79202	.	0.528581	0.18631	N	0.135591	T	0.12518	0.0304	L	0.34521	1.04	0.80722	D	1	P;B;B	0.43750	0.816;0.156;0.082	B;B;B	0.37267	0.245;0.054;0.085	T	0.11470	-1.0586	10	0.25106	T	0.35	.	11.5544	0.50739	0.8069:0.1931:0.0:0.0	.	176;176;176	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	G	176	ENSP00000282469:E176G;ENSP00000348314:E176G;ENSP00000421593:E176G;ENSP00000412125:E176G	ENSP00000282469:E176G	E	+	2	0	SPEF2	35680326	1.000000	0.71417	0.977000	0.42913	0.093000	0.18481	3.117000	0.50407	2.059000	0.61396	0.528000	0.53228	GAG		0.313	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		G	35644569	A	G	35644569	3	3	122	1	0	0	0	0	1	0	0	0	15037	304	11	4	541	4	SPEF2	5	35644569	Missense_Mutation	SNP	A	TCGA-13-1407-01A-01W-0490-10		35644569	145270691	6	6666											
SLCO4C1	353189	hgsc.bcm.edu	37	5	101585419	101585419	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr5:101585419C>T	ENST00000310954.6	-	9	1829	c.1543G>A	c.(1543-1545)Gtc>Atc	p.V515I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.V515I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCTCCACAGACAGGATAATAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	5											98	95	96					5																	101585419		2203	4300	6503	101613318	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1543G>A	5.37:g.101585419C>T	ENSP00000309741:p.Val515Ile		101613318		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593720	0.28445	.	.	ENSG00000173930	ENST00000310954	T	0.13089	2.62	5.61	-4.07	0.03975	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.551750	0.16542	N	0.209867	T	0.13415	0.0325	L	0.43554	1.36	0.09310	N	0.999999	B	0.27823	0.19	B	0.36989	0.238	T	0.17837	-1.0356	10	0.27785	T	0.31	.	14.0394	0.64665	0.0:0.3156:0.5648:0.1196	.	515	Q6ZQN7	SO4C1_HUMAN	I	515	ENSP00000309741:V515I	ENSP00000309741:V515I	V	-	1	0	SLCO4C1	101613318	0.000000	0.05858	0.034000	0.17996	0.933000	0.57130	-0.517000	0.06275	-1.339000	0.02230	0.460000	0.39030	GTC		0.418	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		T	101585419	C	T	101585419	3	4	122	1	0	0	0	0	1	0	0	0	14733	478	17	2	651	2	SLCO4C1	5	101585419	Missense_Mutation	SNP	C	TCGA-13-1407-01A-01W-0490-10	65940850	101585419	79329841	7	6667											
DNAH11	8701	hgsc.bcm.edu	37	7	21609827	21609827	+	Silent	SNP	T	T	C	rs376831401		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr7:21609827T>C	ENST00000409508.3	+	7	1366	c.1335T>C	c.(1333-1335)ttT>ttC	p.F445F	DNAH11_ENST00000328843.6_Silent_p.F445F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	445	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F445F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAGCTACTTTATGGGAAGAA	0.348									Kartagener syndrome																																							1	Substitution - coding silent(1)	ovary(1)	7						T		0,3612		0,0,1806	79	79	79		1335	0.6	0	7		79	1,8147		0,1,4073	no	coding-synonymous	DNAH11	NM_003777.3		0,1,5879	CC,CT,TT		0.0123,0.0,0.0085		445/4524	21609827	1,11759	1806	4074	5880	21576352	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1335T>C	7.37:g.21609827T>C			21576352	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		C	21609827	T	C	21609827	2	2	122	1	0	0	0	0	0	0	0	1	4599	1751	61	4		4	DNAH11	7	21609827	Silent	SNP	T	TCGA-13-1407-01A-01W-0490-10		21609827	137528836	8	6668											
MDFIC	29969	hgsc.bcm.edu	37	7	114619677	114619677	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr7:114619677G>C	ENST00000393486.1	+	4	924	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	MDFIC_ENST00000257724.3_Missense_Mutation_p.G221R	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing									p.G221R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						AATTCACCACGGGGCCAAACA	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											91	89	90					7																	114619677		2203	4300	6503	114406913	SO:0001583	missense	29969			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.334G>C	7.37:g.114619677G>C	ENSP00000377126:p.Gly112Arg		114406913		Missense_Mutation	SNP	ENST00000393486.1	37	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297839	0.60086	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.98	5.1	0.69264	.	0.225393	0.37012	N	0.002298	T	0.60209	0.2251	L	0.53249	1.67	0.47094	D	0.999313	B	0.28636	0.218	B	0.30179	0.112	T	0.60591	-0.7233	9	0.54805	T	0.06	-3.5483	15.5998	0.76616	0.0666:0.0:0.9334:0.0	.	112	Q9P1T7	MDFIC_HUMAN	R	221;112;98;57	.	ENSP00000257724:G221R	G	+	1	0	MDFIC	114406913	1.000000	0.71417	0.856000	0.33681	0.851000	0.48451	5.754000	0.68743	1.509000	0.48786	0.591000	0.81541	GGG		0.468	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		C	114619677	G	C	114619677	3	2	122	1	0	0	0	0	1	0	0	0	9405	1116	39	3	717	3	MDFIC	7	114619677	Missense_Mutation	SNP	G	TCGA-13-1407-01A-01W-0490-10	93009850	114619677	44518986	9	6669											
MAK16	84549	hgsc.bcm.edu	37	8	33346510	33346510	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr8:33346510G>A	ENST00000360128.6	+	5	702	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	82						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R82Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						TGGTAGGTCCGGCTTAGTAAA	0.423																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	8											90	89	90					8																	33346510		2203	4300	6503	33466052	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"RNA binding motif (RRM) containing"	13703	protein-coding gene	gene with protein product			"RNA binding motif protein 13"	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.245G>A	8.37:g.33346510G>A	ENSP00000353246:p.Arg82Gln		33466052	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	ENST00000360128.6	37	CCDS6089.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838440	0.71373	.	.	ENSG00000198042	ENST00000360128	T	0.41758	0.99	5.74	4.86	0.63082	.	0.182235	0.48286	D	0.000189	T	0.39172	0.1068	L	0.49513	1.565	0.42219	D	0.991849	B	0.29612	0.251	B	0.26770	0.073	T	0.33599	-0.9862	10	0.62326	D	0.03	-6.7796	14.5251	0.67881	0.0:0.0:0.7343:0.2657	.	82	Q9BXY0	MAK16_HUMAN	Q	82	ENSP00000353246:R82Q	ENSP00000353246:R82Q	R	+	2	0	MAK16	33466052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.664000	0.61540	1.422000	0.47177	0.561000	0.74099	CGG		0.423	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		A	33346510	G	A	33346510	3	1	122	1	0	0	0	0	1	0	0	0	9198	1116	39	1	263	1	MAK16	8	33346510	Missense_Mutation	SNP	G	TCGA-13-1407-01A-01W-0490-10		33346510	113017512	10	6670											
SFXN4	119559	hgsc.bcm.edu	37	10	120920467	120920467	+	Silent	SNP	G	G	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr10:120920467G>C	ENST00000355697.2	-	5	313	c.294C>G	c.(292-294)ccC>ccG	p.P98P	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Silent_p.P89P	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	98					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.P98P(2)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGCTGCTGTCGGGATGCACTG	0.428																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	10											187	182	184					10																	120920467		2203	4300	6503	120910457	SO:0001819	synonymous_variant	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.294C>G	10.37:g.120920467G>C			120910457	Q6WSU4|Q86TD9	Silent	SNP	ENST00000355697.2	37	CCDS7610.1																																																																																				0.428	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		C	120920467	G	C	120920467	2	2	122	1	0	0	0	0	0	0	0	1	14200	1103	39	3		3	SFXN4	10	120920467	Silent	SNP	G	TCGA-13-1407-01A-01W-0490-10		120920467	14614280	11	6671											
CCKBR	887	hgsc.bcm.edu	37	11	6291039	6291039	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:6291039G>T	ENST00000334619.2	+	2	485	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	CCKBR_ENST00000525462.1_Missense_Mutation_p.V98F|CCKBR_ENST00000525014.1_Missense_Mutation_p.V98F|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000531712.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	98					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.V98F(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CTCACTGGCAGTCAGCGACCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											148	116	127					11																	6291039		2201	4296	6497	6247615	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.292G>T	11.37:g.6291039G>T	ENSP00000335544:p.Val98Phe		6247615	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794515	0.70452	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.38722	2.75;1.12;2.75	4.83	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.270007	0.30320	N	0.009899	T	0.47783	0.1464	L	0.50333	1.59	0.49051	D	0.999749	P;B;P	0.45176	0.639;0.307;0.852	B;B;P	0.52343	0.237;0.16;0.696	T	0.47209	-0.9135	10	0.62326	D	0.03	.	9.7821	0.40653	0.0:0.1525:0.6899:0.1576	.	98;32;98	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	F	98	ENSP00000335544:V98F;ENSP00000437001:V98F;ENSP00000435534:V98F	ENSP00000335544:V98F	V	+	1	0	CCKBR	6247615	0.916000	0.31088	1.000000	0.80357	0.996000	0.88848	1.393000	0.34497	1.233000	0.43693	0.563000	0.77884	GTC		0.577	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		T	6291039	G	T	6291039	3	4	122	1	0	0	0	0	1	0	0	0	2881	1029	36	3	298	3	CCKBR	11	6291039	Missense_Mutation	SNP	G	TCGA-13-1407-01A-01W-0490-10		6291039	128715477	12	6672											
WEE1	7465	hgsc.bcm.edu	37	11	9598752	9598752	+	Silent	SNP	A	A	G			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:9598752A>G	ENST00000450114.2	+	5	1336	c.1083A>G	c.(1081-1083)cgA>cgG	p.R361R	WEE1_ENST00000299613.6_Silent_p.R147R|snoU13_ENST00000458785.1_RNA	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	361	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R361R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ATGTAGTTCGATATTTCTCTG	0.358																																																1	Substitution - coding silent(1)	ovary(1)	11											156	151	153					11																	9598752		2201	4294	6495	9555328	SO:0001819	synonymous_variant	7465			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1083A>G	11.37:g.9598752A>G			9555328	B3KVE1|D3DQV0	Silent	SNP	ENST00000450114.2	37	CCDS7800.1																																																																																				0.358	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		G	9598752	A	G	9598752	2	3	122	1	0	0	0	0	0	0	0	1	17344	320	12	4		4	WEE1	11	9598752	Silent	SNP	A	TCGA-13-1407-01A-01W-0490-10	3307713	9598752	125407764	13	6673											
FAT3	120114	hgsc.bcm.edu	37	11	92592429	92592429	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:92592429A>G	ENST00000298047.6	+	20	11616	c.11599A>G	c.(11599-11601)Aca>Gca	p.T3867A	FAT3_ENST00000533797.1_Missense_Mutation_p.T202A|FAT3_ENST00000409404.2_Missense_Mutation_p.T3867A|FAT3_ENST00000525166.1_Missense_Mutation_p.T3717A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3867	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T442A(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCGTCTTCGAACACTGCAAAG	0.393										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											86	82	83					11																	92592429		1853	4097	5950	92232077	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11599A>G	11.37:g.92592429A>G	ENSP00000298047:p.Thr3867Ala		92232077	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	24.5	4.535261	0.85812	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.92750	0.7695	M	0.84585	2.705	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.85130	0.997;0.973	D	0.93527	0.6866	9	0.56958	D	0.05	.	15.271	0.73702	1.0:0.0:0.0:0.0	.	3867;3867	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	A	3867;3867;3717;202	ENSP00000298047:T3867A;ENSP00000387040:T3867A;ENSP00000432586:T3717A;ENSP00000436399:T202A	ENSP00000298047:T3867A	T	+	1	0	FAT3	92232077	1.000000	0.71417	0.951000	0.38953	0.982000	0.71751	8.832000	0.92079	2.086000	0.62901	0.533000	0.62120	ACA		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92592429	A	G	92592429	3	3	122	1	0	0	0	0	1	0	0	0	5691	43	2	4	11677	4	FAT3	11	92592429	Missense_Mutation	SNP	A	TCGA-13-1407-01A-01W-0490-10	82993677	92592429	42414087	14	6674			1	5		2	2	22	A		1.967241e-05
FAT3	120114	hgsc.bcm.edu	37	11	92592450	92592450	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:92592450A>T	ENST00000298047.6	+	20	11637	c.11620A>T	c.(11620-11622)Ata>Tta	p.I3874L	FAT3_ENST00000533797.1_Missense_Mutation_p.I209L|FAT3_ENST00000409404.2_Missense_Mutation_p.I3874L|FAT3_ENST00000525166.1_Missense_Mutation_p.I3724L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3874	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I449L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATGGGATTATAATGTACAC	0.383										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											80	76	77					11																	92592450		1858	4097	5955	92232098	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11620A>T	11.37:g.92592450A>T	ENSP00000298047:p.Ile3874Leu		92232098	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	16.29	3.081172	0.55753	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.05	2.44	0.29823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.40743	0.1129	N	0.17082	0.46	0.80722	D	1	B;B	0.15473	0.013;0.001	B;B	0.21360	0.034;0.006	T	0.15378	-1.0439	9	0.07325	T	0.83	.	11.3968	0.49847	0.7128:0.2872:0.0:0.0	.	3874;3874	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	3874;3874;3724;209	ENSP00000298047:I3874L;ENSP00000387040:I3874L;ENSP00000432586:I3724L;ENSP00000436399:I209L	ENSP00000298047:I3874L	I	+	1	0	FAT3	92232098	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	4.758000	0.62220	0.832000	0.34804	0.533000	0.62120	ATA		0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92592450	A	T	92592450	3	4	122	1	0	0	0	0	1	0	0	0	5691	449	16	5	11698	5	FAT3	11	92592450	Missense_Mutation	SNP	A	TCGA-13-1407-01A-01W-0490-10	21	92592450	42414066	15	6675			1	5		2	2	22	A		1.967241e-05
ARHGEF12	23365	hgsc.bcm.edu	37	11	120335957	120335957	+	Silent	SNP	A	A	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:120335957A>T	ENST00000397843.2	+	28	2791	c.2625A>T	c.(2623-2625)ccA>ccT	p.P875P	ARHGEF12_ENST00000356641.3_Silent_p.P856P|ARHGEF12_ENST00000532993.1_Silent_p.P772P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	875	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P875P(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCAGCGGACCAGGAGAGGAGA	0.433			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - coding silent(1)	ovary(1)	11											111	112	112					11																	120335957		1993	4182	6175	119841167	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2625A>T	11.37:g.120335957A>T			119841167	O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																				0.433	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		T	120335957	A	T	120335957	2	4	122	1	0	0	0	0	0	0	0	1	897	175	7	5		5	ARHGEF12	11	120335957	Silent	SNP	A	TCGA-13-1407-01A-01W-0490-10	27743507	120335957	14670559	16	6676											
OPCML	4978	hgsc.bcm.edu	37	11	132307168	132307168	+	Silent	SNP	C	C	T	rs148098619		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr11:132307168C>T	ENST00000331898.7	-	4	1190	c.612G>A	c.(610-612)gcG>gcA	p.A204A	OPCML_ENST00000541867.1_Silent_p.A204A|OPCML_ENST00000374778.4_Silent_p.A163A|OPCML_ENST00000524381.1_Silent_p.A197A|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	204	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.A204A(2)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CATCGTTCAACGCGCTGCATT	0.547																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	11						C	,	0,4402		0,0,2201	118	101	107		591,612	-1.2	0.9	11	dbSNP_134	107	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	197/339,204/346	132307168	1,12995	2201	4297	6498	131812378	SO:0001819	synonymous_variant	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.612G>A	11.37:g.132307168C>T			131812378	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	CCDS8492.1																																																																																				0.547	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		T	132307168	C	T	132307168	2	4	122	1	0	0	0	0	0	0	0	1	10874	523	19	1		1	OPCML	11	132307168	Silent	SNP	C	TCGA-13-1407-01A-01W-0490-10	11971211	132307168	2699348	17	6677											
PAH	5053	hgsc.bcm.edu	37	12	103249075	103249075	+	Missense_Mutation	SNP	T	T	C	rs199475617		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr12:103249075T>C	ENST00000553106.1	-	6	1017	c.545A>G	c.(544-546)gAa>gGa	p.E182G	PAH_ENST00000307000.2_Missense_Mutation_p.E177G|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	182					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.E182G(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCTTTTCTTCCTCCATGTA	0.463																																																1	Substitution - Missense(1)	ovary(1)	12	GRCh37	CM950885	PAH	M							97	92	94					12																	103249075		2203	4300	6503	101773205	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.545A>G	12.37:g.103249075T>C	ENSP00000448059:p.Glu182Gly		101773205	Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161921	0.78226	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99683	-6.39;-6.39	5.73	5.73	0.89815	Aromatic amino acid hydroxylase, C-terminal (3);	0.143235	0.64402	D	0.000007	D	0.99651	0.9871	M	0.91663	3.23	0.80722	D	1	P;P	0.52577	0.94;0.954	P;P	0.54629	0.757;0.741	D	0.97617	1.0133	10	0.72032	D	0.01	-23.5389	16.0172	0.80450	0.0:0.0:0.0:1.0	rs62650746	182;182	B4DPN2;P00439	.;PH4H_HUMAN	G	182;177	ENSP00000448059:E182G;ENSP00000303500:E177G	ENSP00000303500:E177G	E	-	2	0	PAH	101773205	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	5.026000	0.64103	2.185000	0.69588	0.454000	0.30748	GAA		0.463	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			C	103249075	T	C	103249075	3	2	122	1	0	0	0	0	1	0	0	0	11394	1783	62	4	845	4	PAH	12	103249075	Missense_Mutation	SNP	T	TCGA-13-1407-01A-01W-0490-10		103249075	30602820	18	6678											
NCOR2	9612	hgsc.bcm.edu	37	12	124840034	124840037	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	TGAG	TGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr12:124840034_124840037delTGAG	ENST00000405201.1	-	24	3322_3325	c.3322_3325delCTCA	c.(3322-3327)ctcatcfs	p.LI1108fs	NCOR2_ENST00000397355.1_Frame_Shift_Del_p.LI1099fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.LI1098fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.LI1115fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.LI669fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.LI1098fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1116					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.L1115fs*14(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGAGGAGATGAGGGGAGGCGGG	0.623																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								123405990	SO:0001589	frameshift_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3322_3325delCTCA	12.37:g.124840034_124840037delTGAG	ENSP00000384018:p.Leu1108fs		123405987	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	CCDS41858.2																																																																																				0.623	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		-	124840037	TGAG	-	124840034	7	5	122	1	0	1	0	1	0	0	0	0	10236	1464	51	0	4315	0	NCOR2	12	124840034	Frame_Shift_Del	DEL	TGAG	TCGA-13-1407-01A-01W-0490-10	21590959	124840034	9011861	19	6679											
PRMT5	10419	hgsc.bcm.edu	37	14	23393852	23393852	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr14:23393852G>C	ENST00000324366.8	-	9	1229	c.1006C>G	c.(1006-1008)Cag>Gag	p.Q336E	PRMT5_ENST00000553897.1_Missense_Mutation_p.Q292E|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.Q275E|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.Q319E|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.Q230E|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.Q165E	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	336	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.Q336E(1)|p.Q336*(1)|p.Q319*(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCTGGTACTGAGAGTATTTG	0.493																																																3	Substitution - Nonsense(2)|Substitution - Missense(1)	lung(2)|ovary(1)	14											102	91	95					14																	23393852		2203	4300	6503	22463692	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1006C>G	14.37:g.23393852G>C	ENSP00000319169:p.Gln336Glu		22463692	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708695	0.30322	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043;ENST00000553550	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.92	5.92	0.95590	.	0.154543	0.64402	D	0.000013	T	0.17195	0.0413	N	0.25992	0.78	0.80722	D	1	B;B;B;B;B	0.17038	0.007;0.005;0.016;0.005;0.02	B;B;B;B;B	0.21360	0.02;0.023;0.034;0.008;0.023	T	0.09400	-1.0676	10	0.10636	T	0.68	-12.8612	19.0921	0.93231	0.0:0.0:1.0:0.0	.	292;275;165;336;319	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	E	336;319;165;275;230;292;79;231;88;182	ENSP00000319169:Q336E;ENSP00000380583:Q319E;ENSP00000380582:Q165E;ENSP00000216350:Q275E;ENSP00000444915:Q230E;ENSP00000452555:Q292E	ENSP00000216350:Q275E	Q	-	1	0	PRMT5	22463692	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.550000	0.90675	2.813000	0.96785	0.561000	0.74099	CAG		0.493	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			C	23393852	G	C	23393852	3	2	122	1	0	0	0	0	1	0	0	0	12542	1299	45	3	943	3	PRMT5	14	23393852	Missense_Mutation	SNP	G	TCGA-13-1407-01A-01W-0490-10		23393852	83955688	20	6680											
KCNH5	27133	hgsc.bcm.edu	37	14	63174535	63174535	+	Silent	SNP	C	C	T			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr14:63174535C>T	ENST00000322893.7	-	11	2926	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	886					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E886E(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGGACTGTGCTCTAGCGGAC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	14											129	115	120					14																	63174535		2203	4300	6503	62244288	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2658G>A	14.37:g.63174535C>T			62244288	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.502	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63174535	C	T	63174535	2	4	122	1	0	0	0	0	0	0	0	1	8035	796	28	2		2	KCNH5	14	63174535	Silent	SNP	C	TCGA-13-1407-01A-01W-0490-10	39780683	63174535	44175005	21	6681											
CLN6	54982	hgsc.bcm.edu	37	15	68506674	68506674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr15:68506674delT	ENST00000249806.5	-	3	408	c.251delA	c.(250-252)tacfs	p.Y84fs	CLN6_ENST00000538696.1_Frame_Shift_Del_p.Y116fs|CLN6_ENST00000566347.1_Frame_Shift_Del_p.Y84fs|CLN6_ENST00000565471.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000564752.1_Frame_Shift_Del_p.Y84fs|CLN6_ENST00000418702.2_Frame_Shift_Del_p.T50fs	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	84					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.Y84fs*32(1)		large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CATGTGGAAGTAGTCCCCAAC	0.572																																																1	Deletion - Frameshift(1)	ovary(1)	15											224	168	187					15																	68506674		2200	4298	6498	66293728	SO:0001589	frameshift_variant	54982			AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.251delA	15.37:g.68506674delT	ENSP00000249806:p.Tyr84fs		66293728	A8K560|B4DDH6|Q6IAB1|Q96SR0	Frame_Shift_Del	DEL	ENST00000249806.5	37	CCDS10227.1																																																																																				0.572	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		-	68506674	T	-	68506674	7	5	122	1	0	1	0	1	0	0	0	0	3545	1638	57	0	704	0	CLN6	15	68506674	Frame_Shift_Del	DEL	T	TCGA-13-1407-01A-01W-0490-10		68506674	34024718	22	6682											
TP53	7157	hgsc.bcm.edu	37	17	7579361	7579361	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr17:7579361A>C	ENST00000269305.4	-	4	515	c.326T>G	c.(325-327)tTc>tGc	p.F109C	TP53_ENST00000359597.4_Missense_Mutation_p.F109C|TP53_ENST00000420246.2_Missense_Mutation_p.F109C|TP53_ENST00000445888.2_Missense_Mutation_p.F109C|TP53_ENST00000413465.2_Missense_Mutation_p.F109C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F109C	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	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	GCCCAGACGGAAACCGTAGCT	0.612		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"	31	Substitution - Missense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Complex - deletion inframe(2)	upper_aerodigestive_tract(5)|large_intestine(5)|stomach(4)|bone(4)|breast(4)|central_nervous_system(2)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)	17											62	59	60					17																	7579361		2203	4300	6503	7520086	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.326T>G	17.37:g.7579361A>C	ENSP00000269305:p.Phe109Cys		7520086	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	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104070	0.76983	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.104685	0.64402	D	0.000004	D	0.99866	0.9937	M	0.90977	3.165	0.47862	D	0.999536	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.999;0.999;1.0;0.999;0.998	D	0.96432	0.9320	10	0.87932	D	0	-31.6488	12.5363	0.56144	1.0:0.0:0.0:0.0	.	70;109;109;109;109;109;109	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	109	ENSP00000410739:F109C;ENSP00000352610:F109C;ENSP00000269305:F109C;ENSP00000398846:F109C;ENSP00000391127:F109C;ENSP00000391478:F109C;ENSP00000424104:F109C;ENSP00000426252:F109C	ENSP00000269305:F109C	F	-	2	0	TP53	7520086	1.000000	0.71417	0.868000	0.34077	0.936000	0.57629	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	TTC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7579361	A	C	7579361	3	2	122	1	0	0	0	0	1	0	0	0	16381	246	9	5	976	5	TP53	17	7579361	Missense_Mutation	SNP	A	TCGA-13-1407-01A-01W-0490-10		7579361	73615849	23	6683											
TANC2	26115	hgsc.bcm.edu	37	17	61315435	61315435	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr17:61315435G>A	ENST00000424789.2	+	6	812	c.808G>A	c.(808-810)Gca>Aca	p.A270T	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A270T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	270					in utero embryonic development (GO:0001701)			p.A270T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAATTCAGTAGCAGGTAAgtt	0.338																																																1	Substitution - Missense(1)	ovary(1)	17											14	14	14					17																	61315435		1795	3962	5757	58669167	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.808G>A	17.37:g.61315435G>A	ENSP00000387593:p.Ala270Thr		58669167	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139586	0.94560	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70164	-0.46;-0.42	5.7	5.7	0.88788	.	.	.	.	.	T	0.76478	0.3993	L	0.39020	1.185	0.80722	D	1	P;D	0.89917	0.712;1.0	P;D	0.91635	0.55;0.999	T	0.74808	-0.3539	9	0.42905	T	0.14	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	270;270	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	T	270	ENSP00000374171:A270T;ENSP00000387593:A270T	ENSP00000374171:A270T	A	+	1	0	TANC2	58669167	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.692000	0.91855	0.655000	0.94253	GCA		0.338	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			A	61315435	G	A	61315435	3	1	122	1	0	0	0	0	1	0	0	0	15545	971	34	2	830	2	TANC2	17	61315435	Missense_Mutation	SNP	G	TCGA-13-1407-01A-01W-0490-10	53736074	61315435	19879775	24	6684											
MPPE1	65258	hgsc.bcm.edu	37	18	11886921	11886921	+	Nonsense_Mutation	SNP	G	G	A	rs557109438	byFrequency	TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr18:11886921G>A	ENST00000588072.1	-	7	1894	c.673C>T	c.(673-675)Cga>Tga	p.R225*	MPPE1_ENST00000317235.7_Nonsense_Mutation_p.R225*|MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000344987.7_Nonsense_Mutation_p.R225*|MPPE1_ENST00000309976.9_Nonsense_Mutation_p.R225*|MPPE1_ENST00000399978.2_Nonsense_Mutation_p.R225*	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	225					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)	p.R225*(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCTACCTCTCGGGAGCAGTTC	0.557													G|||	3	0.000599042	0	0	5008	,	,		19213	0		0	False		,,,				2504	0.0031															1	Substitution - Nonsense(1)	ovary(1)	18											51	44	47					18																	11886921		2203	4300	6503	11876921	SO:0001587	stop_gained	65258			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.673C>T	18.37:g.11886921G>A	ENSP00000465894:p.Arg225*		11876921	B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Nonsense_Mutation	SNP	ENST00000588072.1	37	CCDS11853.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768356	0.90020	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	.	.	.	5.2	3.21	0.36854	.	0.374298	0.26750	N	0.022690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1646	9.3267	0.37997	0.0806:0.0:0.697:0.2224	.	.	.	.	X	225;225;128;225;225	.	ENSP00000311200:R225X	R	-	1	2	MPPE1	11876921	1.000000	0.71417	0.733000	0.30861	0.098000	0.18820	3.174000	0.50847	1.185000	0.42971	-0.150000	0.13652	CGA		0.557	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075		A	11886921	G	A	11886921	4	1	122	1	0	0	0	0	0	1	0	0	9740	1124	39	1	537	1	MPPE1	18	11886921	Nonsense_Mutation	SNP	G	TCGA-13-1407-01A-01W-0490-10		11886921	66190327	25	6685											
PHF20	51230	hgsc.bcm.edu	37	20	34457456	34457456	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr20:34457456G>A	ENST00000374012.3	+	7	1034	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	302					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R302Q(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACGTCCTCGGCTTGACAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	20											136	137	137					20																	34457456		2203	4300	6503	33920870	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.905G>A	20.37:g.34457456G>A	ENSP00000363124:p.Arg302Gln		33920870	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416046	0.83449	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.54071	1.27;0.59;0.59	5.5	4.55	0.56014	.	0.408254	0.23981	N	0.042661	T	0.57315	0.2045	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	P;P;P	0.52031	0.688;0.557;0.54	T	0.58624	-0.7604	10	0.48119	T	0.1	.	14.5775	0.68258	0.0715:0.0:0.9285:0.0	.	302;302;302	Q566Q2;Q9BVI0;Q66K49	.;PHF20_HUMAN;.	Q	302	ENSP00000363124:R302Q;ENSP00000341900:R302Q;ENSP00000363112:R302Q	ENSP00000341900:R302Q	R	+	2	0	PHF20	33920870	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.772000	0.62324	2.587000	0.87381	0.591000	0.81541	CGG		0.393	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		A	34457456	G	A	34457456	3	1	122	1	0	0	0	0	1	0	0	0	11831	1116	39	1	927	1	PHF20	20	34457456	Missense_Mutation	SNP	G	TCGA-13-1407-01A-01W-0490-10		34457456	28568064	26	6686											
PREX1	57580	hgsc.bcm.edu	37	20	47351083	47351083	+	Splice_Site	SNP	C	C	G	rs370938889		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chr20:47351083C>G	ENST00000371941.3	-	4	541	c.519G>C	c.(517-519)ttG>ttC	p.L173F	PREX1_ENST00000396220.1_Splice_Site_p.L173F	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	173	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L173F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTCAACTTACCAAAAGGAAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	20											192	158	169					20																	47351083		2203	4300	6503	46784490	SO:0001630	splice_region_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.519+1G>C	20.37:g.47351083C>G			46784490	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302960	0.60195	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.68331	-0.32;-0.32	5.5	3.58	0.41010	Dbl homology (DH) domain (5);	0.000000	0.43110	U	0.000603	T	0.78641	0.4315	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77440	-0.2587	9	.	.	.	.	11.5602	0.50772	0.0:0.8542:0.0:0.1458	.	173	Q8TCU6	PREX1_HUMAN	F	173	ENSP00000361009:L173F;ENSP00000379522:L173F	.	L	-	3	2	PREX1	46784490	1.000000	0.71417	0.951000	0.38953	0.266000	0.26442	7.129000	0.77225	0.699000	0.31761	0.650000	0.86243	TTG		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	Missense_Mutation	G	47351083	C	G	47351083	5	3	122	1	0	0	0	0	0	0	1	0	12479	608	21	3	4608	3	PREX1	20	47351083	Splice_Site	SNP	C	TCGA-13-1407-01A-01W-0490-10	12893627	47351083	15674437	27	6687											
DGKK	139189	hgsc.bcm.edu	37	X	50167292	50167293	+	RNA	INS	-	-	A			TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chrX:50167292_50167293insA	ENST00000376025.2	-	0	768_769							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AACCAGAAAATATCTAAGCTTC	0.401																																																0			X																																								50184033			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167293_50167293dupA			50184032	B2RP91	Frame_Shift_Ins	INS	ENST00000376025.2	37																																																																																					0.401	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		A	50167293	-	A	50167292	6	5	122	0	1	1	1	0	0	0	0	0	4472	1406	49	0		0	DGKK	23	50167292	RNA	INS	-	TCGA-13-1407-01A-01W-0490-10		50167292	105103268	28	6688											
ODZ1	10178	hgsc.bcm.edu	37	X	123787619	123787619	+	Missense_Mutation	SNP	G	G	A	rs374613583		TCGA-13-1407-01A-01W-0490-10	TCGA-13-1407-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	ab616375-b351-4bbc-9dbb-6eaea4e0b6f7	62823d5e-d091-4ea7-95b2-1f3e0cd201c9	g.chrX:123787619G>A	ENST00000371130.3	-	7	1246	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TENM1_ENST00000422452.2_Missense_Mutation_p.R395W	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	395					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R397W(2)									TCTATCGCCCGTCCCTTCTGA	0.383																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	X						G	TRP/ARG,TRP/ARG,TRP/ARG	1,3834		0,0,1,1632,570	94	80	85		1183,1180,1183	5.6	1	X		85	0,6728		0,0,0,2428,1872	no	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	101,101,101	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	395/2733,394/2732,395/2726	123787619	1,10562	2203	4300	6503	123615300	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1183C>T	X.37:g.123787619G>A	ENSP00000360171:p.Arg395Trp		123615300	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180030	0.57800	2.61E-4	0.0	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.27720	1.65;1.65	5.6	5.6	0.85130	.	0.072828	0.53938	D	0.000052	T	0.30103	0.0754	L	0.44542	1.39	0.46954	D	0.999262	D;D;D	0.67145	0.996;0.991;0.993	B;B;B	0.43680	0.425;0.425;0.427	T	0.06445	-1.0826	10	0.59425	D	0.04	.	13.6083	0.62061	0.0:0.0:0.8451:0.1549	.	394;395;395	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	W	395	ENSP00000360171:R395W;ENSP00000403954:R395W	ENSP00000360171:R395W	R	-	1	2	ODZ1	123615300	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.314000	0.51943	2.351000	0.79841	0.529000	0.55759	CGG		0.383	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123787619	G	A	123787619	3	1	122	1	0	0	0	0	1	0	0	0	10834	1144	40	1	7119	1	ODZ1	23	123787619	Missense_Mutation	SNP	G	TCGA-13-1407-01A-01W-0490-10	73620327	123787619	31482941	29	6689											
DNAJC11	55735	hgsc.bcm.edu	37	1	6698382	6698386	+	Frame_Shift_Del	DEL	CAGCA	CAGCA	-	rs41278032		TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CAGCA	CAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:6698382_6698386delCAGCA	ENST00000377577.5	-	12	1415_1419	c.1292_1296delTGCTG	c.(1291-1296)gtgctgfs	p.VL431fs	DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.VL379fs|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.VL393fs|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.VL341fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	431						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.V431fs*22(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCTTCTGCAGCACATCGGTGGC	0.62																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								6620973	SO:0001589	frameshift_variant	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1292_1296delTGCTG	1.37:g.6698382_6698386delCAGCA	ENSP00000366800:p.Val431fs		6620969	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	CCDS87.1																																																																																				0.62	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		-	6698386	CAGCA	-	6698382	7	5	123	1	0	1	0	1	0	0	0	0	4630	697	25	0	403	0	DNAJC11	1	6698382	Frame_Shift_Del	DEL	CAGCA	TCGA-13-1408-01A-01W-0490-10		6698382	242552239	1	6690											
FBXO6	26270	hgsc.bcm.edu	37	1	11733372	11733372	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:11733372T>A	ENST00000376753.4	+	5	683	c.548T>A	c.(547-549)cTc>cAc	p.L183H		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	183	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)	p.L183H(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTACCAACTCAAAGTGCAG	0.627																																					NSCLC(54;506 1562 46490 51389)											1	Substitution - Missense(1)	ovary(1)	1											67	59	62					1																	11733372		2203	4300	6503	11655959	SO:0001583	missense	26270			AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"F-boxes /  "other""	13585	protein-coding gene	gene with protein product		605647	"F-box only protein 6"			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.548T>A	1.37:g.11733372T>A	ENSP00000365944:p.Leu183His		11655959	B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	ENST00000376753.4	37	CCDS133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.29|14.29	2.492055|2.492055	0.44352|0.44352	.|.	.|.	ENSG00000116663|ENSG00000116663	ENST00000376753|ENST00000449067	T|.	0.46819|.	0.86|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);|.	0.330314|.	0.34507|.	N|.	0.003909|.	T|T	0.67183|0.67183	0.2866|0.2866	M|M	0.86805|0.86805	2.84|2.84	0.09310|0.09310	N|N	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.64347|0.64347	-0.6429|-0.6429	10|5	0.87932|.	D|.	0|.	.|.	13.3004|13.3004	0.60321|0.60321	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	183|.	Q9NRD1|.	FBX6_HUMAN|.	H|T	183|139	ENSP00000365944:L183H|.	ENSP00000365944:L183H|.	L|S	+|+	2|1	0|0	FBXO6|FBXO6	11655959|11655959	0.291000|0.291000	0.24352|0.24352	0.012000|0.012000	0.15200|0.15200	0.149000|0.149000	0.21700|0.21700	5.059000|5.059000	0.64306|0.64306	2.165000|2.165000	0.68154|0.68154	0.379000|0.379000	0.24179|0.24179	CTC|TCA		0.627	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		A	11733372	T	A	11733372	3	1	123	1	0	0	0	0	1	0	0	0	5759	1551	54	5	562	5	FBXO6	1	11733372	Missense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10	5034990	11733372	237517249	2	6691											
TAF12	6883	hgsc.bcm.edu	37	1	28931966	28931966	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:28931966T>C	ENST00000263974.4	-	5	802	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	TAF12_ENST00000471683.1_5'UTR|TAF12_ENST00000373824.4_Missense_Mutation_p.Q123R	NM_001135218.1	NP_001128690.1	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	123					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q123R(1)		ovary(1)|upper_aerodigestive_tract(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CATGTTCCACTGGCGCTCTGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											101	101	101					1																	28931966		2203	4300	6503	28804553	SO:0001583	missense	6883			BC011986	CCDS326.1	1p35	2008-02-05	2002-08-29	2001-12-07	ENSG00000120656	ENSG00000120656			11545	protein-coding gene	gene with protein product		600773	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD"	TAF2J		7729427	Standard	NM_005644		Approved	TAFII20	uc001bqy.3	Q16514	OTTHUMG00000003655	ENST00000263974.4:c.368A>G	1.37:g.28931966T>C	ENSP00000263974:p.Gln123Arg		28804553	D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000263974.4	37	CCDS326.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025713	0.75390	.	.	ENSG00000120656	ENST00000373824;ENST00000263974	.	.	.	5.65	5.65	0.86999	Histone-fold (2);Transcription initiation factor TFIID (2);	0.053759	0.85682	D	0.000000	T	0.56804	0.2010	L	0.43152	1.355	0.80722	D	1	P;P	0.43169	0.762;0.8	B;P	0.45232	0.164;0.474	T	0.60546	-0.7242	9	0.59425	D	0.04	-4.3712	14.8357	0.70180	0.0:0.0:0.0:1.0	.	93;123	Q16514-2;Q16514	.;TAF12_HUMAN	R	123	.	ENSP00000263974:Q123R	Q	-	2	0	TAF12	28804553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.562000	0.82300	2.152000	0.67230	0.477000	0.44152	CAG		0.512	TAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010367.1	NM_005644		C	28931966	T	C	28931966	3	2	123	1	0	0	0	0	1	0	0	0	15516	1580	55	4	125	4	TAF12	1	28931966	Missense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10	17198594	28931966	220318655	3	6692											
BAI2	576	hgsc.bcm.edu	37	1	32202314	32202314	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:32202314G>T	ENST00000373658.3	-	21	3331	c.2990C>A	c.(2989-2991)aCc>aAc	p.T997N	BAI2_ENST00000398542.1_Missense_Mutation_p.T930N|BAI2_ENST00000440175.2_Missense_Mutation_p.T639N|BAI2_ENST00000373655.2_Missense_Mutation_p.T997N|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000398556.3_Missense_Mutation_p.T945N|BAI2_ENST00000398547.1_Missense_Mutation_p.T930N|BAI2_ENST00000257070.4_Missense_Mutation_p.T997N|BAI2_ENST00000398538.1_Missense_Mutation_p.T985N|BAI2_ENST00000527361.1_Missense_Mutation_p.T997N	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	997					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T997N(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCCGTCATGGTGCACACGCC	0.672																																																1	Substitution - Missense(1)	ovary(1)	1											74	55	62					1																	32202314		2203	4299	6502	31974901	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2990C>A	1.37:g.32202314G>T	ENSP00000362762:p.Thr997Asn		31974901	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099017	0.76870	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.66	4.66	0.58398	GPCR, family 2-like (1);	0.000000	0.42172	D	0.000755	T	0.70491	0.3230	M	0.88775	2.98	0.54753	D	0.999989	D;D;D;D;D	0.76494	0.997;0.999;0.996;0.997;0.999	D;D;D;D;D	0.77557	0.947;0.983;0.972;0.974;0.99	T	0.78244	-0.2279	10	0.87932	D	0	.	17.5532	0.87882	0.0:0.0:1.0:0.0	.	997;985;639;997;997	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	N	945;930;997;997;930;997;997;639;985	ENSP00000381564:T945N;ENSP00000381555:T930N;ENSP00000362762:T997N;ENSP00000362759:T997N;ENSP00000381550:T930N;ENSP00000257070:T997N;ENSP00000435397:T997N;ENSP00000391071:T639N;ENSP00000381548:T985N	ENSP00000257070:T997N	T	-	2	0	BAI2	31974901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.312000	0.78011	0.462000	0.41574	ACC		0.672	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		T	32202314	G	T	32202314	3	4	123	1	0	0	0	0	1	0	0	0	1299	1261	44	3	1819	3	BAI2	1	32202314	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	3270348	32202314	217048307	4	6693											
DLGAP3	58512	hgsc.bcm.edu	37	1	35370273	35370273	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:35370273G>A	ENST00000373347.1	-	3	980	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.H238Y			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	238					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.H238Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCTTGCCGTGCCGGGACtgg	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											105	90	95					1																	35370273		2203	4300	6503	35142860	SO:0001583	missense	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.712C>T	1.37:g.35370273G>A	ENSP00000362444:p.His238Tyr		35142860	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332844	0.41297	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.27720	1.65;1.65	4.72	4.72	0.59763	.	0.369798	0.30611	N	0.009253	T	0.37348	0.1000	L	0.46157	1.445	0.38912	D	0.957561	D	0.53885	0.963	P	0.50082	0.63	T	0.13202	-1.0518	10	0.21014	T	0.42	-9.9763	18.0504	0.89345	0.0:0.0:1.0:0.0	.	238	O95886	DLGP3_HUMAN	Y	238	ENSP00000362444:H238Y;ENSP00000235180:H238Y	ENSP00000235180:H238Y	H	-	1	0	DLGAP3	35142860	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.247000	0.58750	2.339000	0.79563	0.563000	0.77884	CAC		0.642	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		A	35370273	G	A	35370273	3	1	123	1	0	0	0	0	1	0	0	0	4561	1319	46	2	2267	2	DLGAP3	1	35370273	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	3167959	35370273	213880348	5	6694											
F11R	50848	hgsc.bcm.edu	37	1	160970451	160970451	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:160970451C>A	ENST00000368026.6	-	4	632	c.358G>T	c.(358-360)Ggg>Tgg	p.G120W	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Intron	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	120	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G120W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TTGACCTCCCCATAGCTGTTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											215	149	171					1																	160970451		2203	4300	6503	159237075	SO:0001583	missense	50848			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.358G>T	1.37:g.160970451C>A	ENSP00000357005:p.Gly120Trp		159237075	B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100783	0.76983	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.71103	-0.54;-0.54	5.36	5.36	0.76844	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119781	0.56097	D	0.000033	D	0.84129	0.5404	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86862	0.2030	10	0.87932	D	0	.	16.5755	0.84635	0.0:1.0:0.0:0.0	.	124;120;120;120	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	W	120;120;120;124	ENSP00000357005:G120W;ENSP00000394809:G124W	ENSP00000289779:G120W	G	-	1	0	F11R	159237075	0.981000	0.34729	0.964000	0.40570	0.718000	0.41266	4.173000	0.58249	2.495000	0.84180	0.563000	0.77884	GGG		0.537	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		A	160970451	C	A	160970451	3	1	123	1	0	0	0	0	1	0	0	0	5338	594	21	3	569	3	F11R	1	160970451	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10	125600178	160970451	88280170	6	6695											
ZNF281	23528	hgsc.bcm.edu	37	1	200377683	200377683	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr1:200377683T>C	ENST00000294740.3	-	2	1275	c.1151A>G	c.(1150-1152)aAc>aGc	p.N384S	ZNF281_ENST00000367353.1_Missense_Mutation_p.N384S|ZNF281_ENST00000367352.3_Missense_Mutation_p.N348S	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	384					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.N384S(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ATTGGTATGGTTTGATGACCC	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											145	147	147					1																	200377683		2203	4300	6503	198644306	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1151A>G	1.37:g.200377683T>C	ENSP00000294740:p.Asn384Ser		198644306	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	2.419	-0.333518	0.05278	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.07688	3.18;3.18;3.17	5.76	2.14	0.27477	.	0.494294	0.22265	N	0.062356	T	0.05044	0.0135	N	0.24115	0.695	0.30667	N	0.753785	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35773	-0.9775	10	0.18710	T	0.47	-0.495	7.4539	0.27255	0.0:0.0765:0.2406:0.6829	.	348;384	A6NF48;Q9Y2X9	.;ZN281_HUMAN	S	384;384;348;89	ENSP00000294740:N384S;ENSP00000356322:N384S;ENSP00000356321:N348S	ENSP00000294740:N384S	N	-	2	0	ZNF281	198644306	1.000000	0.71417	0.687000	0.30102	0.997000	0.91878	2.344000	0.44010	0.101000	0.17610	0.533000	0.62120	AAC		0.398	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		C	200377683	T	C	200377683	3	2	123	1	0	0	0	0	1	0	0	0	17818	1725	60	4	1540	4	ZNF281	1	200377683	Missense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10	39407232	200377683	48872938	7	6696											
EFEMP1	2202	hgsc.bcm.edu	37	2	56108754	56108754	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:56108754C>A	ENST00000394555.2	-	5	1068	c.633G>T	c.(631-633)caG>caT	p.Q211H	EFEMP1_ENST00000424836.2_Missense_Mutation_p.Q153H|EFEMP1_ENST00000394554.1_Missense_Mutation_p.Q211H|EFEMP1_ENST00000355426.3_Missense_Mutation_p.Q211H	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	211	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.Q211H(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACCTACGCACTGCTCCCCTC	0.493																																					GBM(92;934 1319 7714 28760 40110)											1	Substitution - Missense(1)	ovary(1)	2											228	165	186					2																	56108754		2203	4300	6503	55962258	SO:0001583	missense	2202			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.633G>T	2.37:g.56108754C>A	ENSP00000378058:p.Gln211His		55962258	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227643	0.39399	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.91	4.12	0.48240	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000013	D	0.83069	0.5174	N	0.11756	0.17	0.31257	N	0.693363	B;B	0.28419	0.211;0.15	B;B	0.31101	0.024;0.124	T	0.78795	-0.2064	10	0.31617	T	0.26	.	9.5218	0.39140	0.0:0.727:0.0:0.273	.	153;211	B4DW75;Q12805	.;FBLN3_HUMAN	H	211;211;67;153;211	ENSP00000378058:Q211H;ENSP00000378057:Q211H;ENSP00000399145:Q153H;ENSP00000347596:Q211H	ENSP00000347596:Q211H	Q	-	3	2	EFEMP1	55962258	0.999000	0.42202	1.000000	0.80357	0.346000	0.29079	0.552000	0.23376	0.843000	0.35070	-0.140000	0.14226	CAG		0.493	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			A	56108754	C	A	56108754	3	1	123	1	0	0	0	0	1	0	0	0	4941	564	20	3	876	3	EFEMP1	2	56108754	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10		56108754	187090619	8	6697											
ANKRD23	200539	hgsc.bcm.edu	37	2	97508245	97508245	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:97508245T>C	ENST00000318357.4	-	2	72	c.31A>G	c.(31-33)Agt>Ggt	p.S11G	ANKRD23_ENST00000418232.1_Missense_Mutation_p.S11G|ANKRD23_ENST00000476975.1_5'Flank|ANKRD23_ENST00000331001.2_Missense_Mutation_p.S11G	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	11					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)	p.S11G(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTTTCTCCACTTACCTGTAGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											58	62	61					2																	97508245		2203	4300	6503	96871972	SO:0001583	missense	200539				CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.31A>G	2.37:g.97508245T>C	ENSP00000321679:p.Ser11Gly		96871972	Q711K7|Q8NAJ7	Missense_Mutation	SNP	ENST00000318357.4	37	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571946	0.45798	.	.	ENSG00000163126	ENST00000318357;ENST00000418232;ENST00000331001	T;T;T	0.75050	-0.65;-0.65;-0.9	5.07	1.14	0.20703	.	0.310906	0.23228	N	0.050496	T	0.62109	0.2401	L	0.32530	0.975	0.80722	D	1	P;P	0.39665	0.621;0.682	B;B	0.40165	0.205;0.321	T	0.57929	-0.7726	10	0.66056	D	0.02	-1.1611	8.4641	0.32944	0.5451:0.0:0.0:0.4549	.	11;11	Q86SG2-2;Q86SG2	.;ANR23_HUMAN	G	11	ENSP00000321679:S11G;ENSP00000398987:S11G;ENSP00000333108:S11G	ENSP00000321679:S11G	S	-	1	0	ANKRD23	96871972	1.000000	0.71417	0.997000	0.53966	0.765000	0.43378	0.420000	0.21263	0.033000	0.15463	-0.451000	0.05528	AGT		0.512	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		C	97508245	T	C	97508245	3	2	123	1	0	0	0	0	1	0	0	0	652	1609	56	4	918	4	ANKRD23	2	97508245	Missense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10	41399491	97508245	145691128	9	6698											
WDR33	55339	hgsc.bcm.edu	37	2	128463979	128463980	+	Frame_Shift_Ins	INS	-	-	CACTTCT			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:128463979_128463980insCACTTCT	ENST00000322313.4	-	22	4086_4087	c.3928_3929insAGAAGTG	c.(3928-3930)ggcfs	p.G1310fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1310					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G1310fs*5(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCAGTTACTGCCACTCCGGCCC	0.609																																																1	Insertion - Frameshift(1)	ovary(1)	2																																								128180450	SO:0001589	frameshift_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3928_3929insAGAAGTG	2.37:g.128463979_128463980insCACTTCT	ENSP00000325377:p.Gly1310fs		128180449	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Ins	INS	ENST00000322313.4	37	CCDS2150.1																																																																																				0.609	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		CACTTCT	128463980	-	CACTTCT	128463979	7	5	123	1	0	1	1	0	0	0	0	0	17287	739	26	0	85	0	WDR33	2	128463979	Frame_Shift_Ins	INS	-	TCGA-13-1408-01A-01W-0490-10	30955734	128463979	114735394	10	6699											
TTN	7273	hgsc.bcm.edu	37	2	179426390	179426390	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:179426390G>T	ENST00000591111.1	-	276	79770	c.79546C>A	c.(79546-79548)Cct>Act	p.P26516T	TTN_ENST00000589042.1_Missense_Mutation_p.P28157T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25589T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P19284T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P19217T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19092T|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26516	Fibronectin type-III 93. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P19284T(1)|p.P25587T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCAGGAGGACCTGGGGGA	0.463																																																2	Substitution - Missense(2)	ovary(2)	2											87	87	87					2																	179426390		1899	4109	6008	179134636	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79546C>A	2.37:g.179426390G>T	ENSP00000465570:p.Pro26516Thr		179134636	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.26	2.482374	0.44147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	6.01	6.01	0.97437	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79118	0.4392	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.993;0.988	D;D;D;P	0.63113	0.911;0.911;0.911;0.875	T	0.80915	-0.1169	9	0.87932	D	0	.	20.5073	0.99209	0.0:0.0:1.0:0.0	.	19092;19217;19284;26516	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25589;19092;19284;19217;19090	ENSP00000343764:P25589T;ENSP00000434586:P19092T;ENSP00000340554:P19284T;ENSP00000352154:P19217T	ENSP00000340554:P19284T	P	-	1	0	TTN	179134636	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.642000	0.74329	2.855000	0.98099	0.585000	0.79938	CCT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179426390	G	T	179426390	3	4	123	1	0	0	0	0	1	0	0	0	16735	1174	41	3	23658	3	TTN	2	179426390	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	50962411	179426390	63772983	11	6700											
TTN	7273	hgsc.bcm.edu	37	2	179582394	179582394	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:179582394C>G	ENST00000591111.1	-	85	24480	c.24256G>C	c.(24256-24258)Gat>Cat	p.D8086H	TTN_ENST00000589042.1_Missense_Mutation_p.D8403H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D7159H|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12275	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D7159H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATTAGCATCATCTTTCAAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											62	61	61					2																	179582394		1879	4100	5979	179290639	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24256G>C	2.37:g.179582394C>G	ENSP00000465570:p.Asp8086His		179290639	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.06	1.526480	0.27299	.	.	ENSG00000155657	ENST00000342992	T	0.33216	1.42	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47911	0.1471	M	0.73430	2.235	0.80722	D	1	P	0.49358	0.923	P	0.52909	0.713	T	0.48433	-0.9036	9	0.87932	D	0	.	13.9294	0.63986	0.0:0.9215:0.0:0.0785	.	8086	Q8WZ42	TITIN_HUMAN	H	7159	ENSP00000343764:D7159H	ENSP00000343764:D7159H	D	-	1	0	TTN	179290639	0.867000	0.29959	0.986000	0.45419	0.995000	0.86356	3.236000	0.51336	2.854000	0.98071	0.655000	0.94253	GAT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179582394	C	G	179582394	3	3	123	1	0	0	0	0	1	0	0	0	16735	826	29	3	79426	3	TTN	2	179582394	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10	156004	179582394	63616979	12	6701											
MYL1	4632	hgsc.bcm.edu	37	2	211158973	211158973	+	Silent	SNP	G	G	T	rs377511663		TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:211158973G>T	ENST00000352451.3	-	4	621	c.474C>A	c.(472-474)acC>acA	p.T158T	MYL1_ENST00000341685.4_Silent_p.T114T|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	158	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.T158T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CCTTACCCAGGGTGGCTAGAA	0.453																																																1	Substitution - coding silent(1)	ovary(1)	2						G	,	1,4405	2.1+/-5.4	0,1,2202	92	78	83		474,342	0.6	1	2		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MYL1	NM_079420.2,NM_079422.2	,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,	158/195,114/151	211158973	1,13005	2203	4300	6503	210867218	SO:0001819	synonymous_variant	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"Myosins / Light chain", "EF-hand domain containing"	7582	protein-coding gene	gene with protein product		160780	"myosin, light polypeptide 1, alkali; skeletal, fast"			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.474C>A	2.37:g.211158973G>T			210867218	B2R4N6|B2R4T6|P06741|Q6IBD5	Silent	SNP	ENST00000352451.3	37	CCDS2390.1																																																																																				0.453	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		T	211158973	G	T	211158973	2	4	123	1	0	0	0	0	0	0	0	1	10043	1219	43	3		3	MYL1	2	211158973	Silent	SNP	G	TCGA-13-1408-01A-01W-0490-10	31576579	211158973	32040400	13	6702											
PER2	8864	hgsc.bcm.edu	37	2	239167255	239167255	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr2:239167255T>C	ENST00000254657.3	-	15	1937	c.1658A>G	c.(1657-1659)aAa>aGa	p.K553R	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	553					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.K553R(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGGACAGCTTTCTTCTCAGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											51	51	51					2																	239167255		2203	4300	6503	238831994	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1658A>G	2.37:g.239167255T>C	ENSP00000254657:p.Lys553Arg		238831994	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	T	8.618	0.890638	0.17613	.	.	ENSG00000132326	ENST00000254657	T	0.12039	2.72	4.79	-0.977	0.10282	.	1.820900	0.02248	N	0.066373	T	0.09905	0.0243	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.09377	0.004;0.004	T	0.28202	-1.0051	10	0.20519	T	0.43	-0.7236	6.2036	0.20590	0.0:0.1626:0.4329:0.4045	.	553;553	B4DH14;O15055	.;PER2_HUMAN	R	553	ENSP00000254657:K553R	ENSP00000254657:K553R	K	-	2	0	PER2	238831994	0.004000	0.15560	0.000000	0.03702	0.039000	0.13416	0.188000	0.17018	-0.338000	0.08413	0.454000	0.30748	AAA		0.498	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		C	239167255	T	C	239167255	3	2	123	1	0	0	0	0	1	0	0	0	11730	1841	64	4	2145	4	PER2	2	239167255	Missense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10	28008282	239167255	4032118	14	6703											
NKTR	4820	hgsc.bcm.edu	37	3	42680647	42680647	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:42680647G>A	ENST00000232978.8	+	13	3639	c.3451G>A	c.(3451-3453)Gca>Aca	p.A1151T	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1151					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A1151T(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCTAGGAAATGCACGGCTTGA	0.463																																																1	Substitution - Missense(1)	ovary(1)	3											87	87	87					3																	42680647		2203	4300	6503	42655651	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3451G>A	3.37:g.42680647G>A	ENSP00000232978:p.Ala1151Thr		42655651		Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772636	0.31411	.	.	ENSG00000114857	ENST00000232978	T	0.81330	-1.48	5.05	-5.64	0.02466	.	1.176370	0.06238	N	0.689824	T	0.59155	0.2173	N	0.22421	0.69	0.09310	N	0.999998	P;B	0.42248	0.774;0.0	B;B	0.36608	0.229;0.0	T	0.54906	-0.8223	10	0.32370	T	0.25	1.1894	2.4707	0.04563	0.0991:0.3051:0.214:0.3819	.	851;1151	Q6M1B8;P30414	.;NKTR_HUMAN	T	1151	ENSP00000232978:A1151T	ENSP00000232978:A1151T	A	+	1	0	NKTR	42655651	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.113000	0.10774	-0.895000	0.03920	-0.474000	0.04947	GCA		0.463	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		A	42680647	G	A	42680647	3	1	123	1	0	0	0	0	1	0	0	0	10448	1319	46	2	3497	2	NKTR	3	42680647	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10		42680647	155341783	15	6704											
IFRD2	7866	hgsc.bcm.edu	37	3	50327841	50327841	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:50327841C>G	ENST00000429673.2	-	3	432	c.433G>C	c.(433-435)Gtg>Ctg	p.V145L	IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000336089.4_Missense_Mutation_p.V247L|IFRD2_ENST00000436390.1_Missense_Mutation_p.V81L|IFRD2_ENST00000417626.2_Missense_Mutation_p.V81L			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	145						nucleus (GO:0005634)		p.V247L(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGACAGTCCACATACTCCTTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	3											94	99	97					3																	50327841		2088	4209	6297	50302845	SO:0001583	missense	7866			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.433G>C	3.37:g.50327841C>G	ENSP00000398971:p.Val145Leu		50302845	Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917091	0.52546	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.2	4.2	0.49525	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.053108	0.64402	D	0.000002	T	0.35970	0.0950	N	0.11560	0.145	0.41292	D	0.986984	P;P	0.39535	0.677;0.677	B;B	0.42882	0.284;0.401	T	0.14531	-1.0469	10	0.30078	T	0.28	-18.655	4.6923	0.12786	0.0:0.7358:0.0:0.2642	.	145;247	Q12894;Q9UJ88	IFRD2_HUMAN;.	L	81;81;247;145	ENSP00000402849:V81L;ENSP00000392316:V81L;ENSP00000336936:V247L;ENSP00000398971:V145L	ENSP00000336936:V247L	V	-	1	0	IFRD2	50302845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.331000	0.59273	2.402000	0.81655	0.655000	0.94253	GTG		0.587	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		G	50327841	C	G	50327841	3	3	123	1	0	0	0	0	1	0	0	0	7554	478	17	3	1127	3	IFRD2	3	50327841	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10	7647194	50327841	147694589	16	6705											
CACNA2D2	9254	hgsc.bcm.edu	37	3	50416992	50416992	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:50416992delG	ENST00000479441.1	-	11	1022	c.1023delC	c.(1021-1023)tgcfs	p.C341fs	CACNA2D2_ENST00000424201.2_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000435965.1_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000395083.1_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000360963.3_Frame_Shift_Del_p.C272fs|CACNA2D2_ENST00000266039.3_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000429770.1_Frame_Shift_Del_p.C341fs|CACNA2D2_ENST00000423994.2_Frame_Shift_Del_p.C341fs			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	341	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F342fs*54(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGTGTGTGAAGCATGACACAG	0.597																																																1	Deletion - Frameshift(1)	ovary(1)	3											97	81	86					3																	50416992		2203	4300	6503	50391996	SO:0001589	frameshift_variant	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1023delC	3.37:g.50416992delG	ENSP00000418081:p.Cys341fs		50391996	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Frame_Shift_Del	DEL	ENST00000479441.1	37	CCDS54588.1																																																																																				0.597	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		-	50416992	G	-	50416992	7	5	123	1	0	1	0	1	0	0	0	0	2549	963	34	0	2551	0	CACNA2D2	3	50416992	Frame_Shift_Del	DEL	G	TCGA-13-1408-01A-01W-0490-10	89151	50416992	147605438	17	6706											
PTPRG	5793	hgsc.bcm.edu	37	3	62142767	62142767	+	Missense_Mutation	SNP	G	G	T	rs200434651		TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:62142767G>T	ENST00000474889.1	+	7	1086	c.709G>T	c.(709-711)Gtc>Ttc	p.V237F	PTPRG_ENST00000295874.10_Missense_Mutation_p.V237F	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	237	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V237F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGATCCTTTCGTCCTCCGGGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	3											124	121	122					3																	62142767		2203	4300	6503	62117807	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.709G>T	3.37:g.62142767G>T	ENSP00000418112:p.Val237Phe		62117807	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251859	0.59212	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66638	-0.22;-0.22	5.8	2.01	0.26516	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.413567	0.26883	N	0.022001	T	0.66356	0.2781	L	0.39566	1.225	0.49213	D	0.999769	P;P	0.52577	0.928;0.954	P;P	0.54706	0.567;0.759	T	0.64997	-0.6275	10	0.87932	D	0	.	9.719	0.40291	0.3173:0.0:0.6827:0.0	.	237;237	P23470-2;P23470	.;PTPRG_HUMAN	F	237	ENSP00000418112:V237F;ENSP00000295874:V237F	ENSP00000295874:V237F	V	+	1	0	PTPRG	62117807	0.920000	0.31207	0.963000	0.40424	0.994000	0.84299	0.708000	0.25719	0.090000	0.17273	0.563000	0.77884	GTC		0.512	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		T	62142767	G	T	62142767	3	4	123	1	0	0	0	0	1	0	0	0	12805	1145	40	3	735	3	PTPRG	3	62142767	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	11725775	62142767	135879663	18	6707											
ABCC5	10057	hgsc.bcm.edu	37	3	183639099	183639099	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:183639099C>G	ENST00000334444.6	-	30	4543	c.4303G>C	c.(4303-4305)Gtc>Ctc	p.V1435L	ABCC5_ENST00000265586.6_Missense_Mutation_p.V1392L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1435					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.V1435L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CAGCCCTTGACAGCGACCTTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	3											105	117	113					3																	183639099		2163	4271	6434	185121793	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.4303G>C	3.37:g.183639099C>G	ENSP00000333926:p.Val1435Leu		185121793	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079080	0.55753	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.91237	-2.65;-2.81	5.18	5.18	0.71444	.	0.000000	0.47455	D	0.000226	D	0.82669	0.5087	N	0.02802	-0.49	0.49130	D	0.999755	D;B	0.53151	0.958;0.073	P;B	0.45406	0.479;0.027	D	0.87596	0.2494	10	0.62326	D	0.03	-13.0384	18.6841	0.91557	0.0:1.0:0.0:0.0	.	1392;1435	Q86UX3;O15440	.;MRP5_HUMAN	L	1435;1392	ENSP00000333926:V1435L;ENSP00000265586:V1392L	ENSP00000265586:V1392L	V	-	1	0	ABCC5	185121793	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	5.327000	0.65881	2.399000	0.81585	0.655000	0.94253	GTC		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		G	183639099	C	G	183639099	3	3	123	1	0	0	0	0	1	0	0	0	56	478	17	3	14	3	ABCC5	3	183639099	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10	121496332	183639099	14383331	19	6708											
KIAA0226	9711	hgsc.bcm.edu	37	3	197408771	197408771	+	Splice_Site	SNP	C	C	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr3:197408771C>T	ENST00000296343.5	-	15	2126		c.e15-1		KIAA0226_ENST00000389665.5_Splice_Site|KIAA0226_ENST00000273582.5_Splice_Site	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.?(2)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AATTTTCCTCCTGAGGAAGGG	0.557																																					Esophageal Squamous(3;167 355 3763 15924)											2	Unknown(2)	ovary(2)	3											87	95	93					3																	197408771		2143	4256	6399	198893168	SO:0001630	splice_region_variant	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2127-1G>A	3.37:g.197408771C>T			198893168	Q96CK5	Splice_Site	SNP	ENST00000296343.5	37	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094231	0.76870	.	.	ENSG00000145016	ENST00000273582;ENST00000413360;ENST00000296343;ENST00000415452;ENST00000389665	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.798	0.88579	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0226	198893168	1.000000	0.71417	0.997000	0.53966	0.670000	0.39368	7.472000	0.80996	2.709000	0.92574	0.655000	0.94253	.		0.557	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	Intron	T	197408771	C	T	197408771	5	4	123	1	0	0	0	0	0	0	1	0	8162	695	24	2	816	2	KIAA0226	3	197408771	Splice_Site	SNP	C	TCGA-13-1408-01A-01W-0490-10	13769672	197408771	613659	20	6709											
EVC2	132884	hgsc.bcm.edu	37	4	5624409	5624409	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr4:5624409C>A	ENST00000344408.5	-	14	2409	c.2356G>T	c.(2356-2358)Gca>Tca	p.A786S	EVC2_ENST00000344938.1_Missense_Mutation_p.A786S|EVC2_ENST00000310917.2_Missense_Mutation_p.A706S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	786					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A786S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCGGCCCGTGCAGCCATCTCC	0.657																																																1	Substitution - Missense(1)	ovary(1)	4											60	47	51					4																	5624409		2203	4300	6503	5675310	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2356G>T	4.37:g.5624409C>A	ENSP00000342144:p.Ala786Ser		5675310	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623393	0.28889	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74947	-0.88;-0.88;-0.89	5.44	1.13	0.20643	.	0.684757	0.14477	N	0.317174	T	0.58250	0.2109	L	0.56769	1.78	0.09310	N	1	P	0.40197	0.706	B	0.33454	0.164	T	0.45877	-0.9231	10	0.21540	T	0.41	-6.6339	1.8796	0.03225	0.1343:0.3903:0.2571:0.2183	.	786	Q86UK5	LBN_HUMAN	S	786;706;786	ENSP00000339954:A786S;ENSP00000311683:A706S;ENSP00000342144:A786S	ENSP00000311683:A706S	A	-	1	0	EVC2	5675310	0.000000	0.05858	0.001000	0.08648	0.531000	0.34715	-0.084000	0.11268	0.635000	0.30488	0.462000	0.41574	GCA		0.657	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		A	5624409	C	A	5624409	3	1	123	1	0	0	0	0	1	0	0	0	5286	710	25	3	1606	3	EVC2	4	5624409	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10		5624409	185529867	21	6710	18	2									
EVC2	132884	hgsc.bcm.edu	37	4	5624411	5624411	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr4:5624411G>A	ENST00000344408.5	-	14	2407	c.2354C>T	c.(2353-2355)gCt>gTt	p.A785V	EVC2_ENST00000344938.1_Missense_Mutation_p.A785V|EVC2_ENST00000310917.2_Missense_Mutation_p.A705V	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	785					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A785V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGCCCGTGCAGCCATCTCCTT	0.662																																																1	Substitution - Missense(1)	ovary(1)	4											60	48	52					4																	5624411		2203	4300	6503	5675312	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2354C>T	4.37:g.5624411G>A	ENSP00000342144:p.Ala785Val		5675312	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872261	0.33069	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75938	-0.98;-0.98;-0.98	5.44	3.65	0.41850	.	0.360878	0.27896	N	0.017420	T	0.60741	0.2292	L	0.59436	1.845	0.23243	N	0.998052	P	0.42692	0.787	B	0.33121	0.158	T	0.51663	-0.8677	10	0.18276	T	0.48	-15.1878	7.1995	0.25873	0.14:0.0:0.7135:0.1465	.	785	Q86UK5	LBN_HUMAN	V	785;705;785	ENSP00000339954:A785V;ENSP00000311683:A705V;ENSP00000342144:A785V	ENSP00000311683:A705V	A	-	2	0	EVC2	5675312	0.955000	0.32602	0.240000	0.24138	0.596000	0.36781	2.949000	0.49074	1.249000	0.43950	0.462000	0.41574	GCT		0.662	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		A	5624411	G	A	5624411	3	1	123	1	0	0	0	0	1	0	0	0	5286	971	34	2	1608	2	EVC2	4	5624411	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	2	5624411	185529865	22	6711	18	2									
ARHGEF38	54848	hgsc.bcm.edu	37	4	106510409	106510409	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr4:106510409G>C	ENST00000420470.2	+	2	345	c.201G>C	c.(199-201)aaG>aaC	p.K67N	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.K67N	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	67			K -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K67N(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						TAACAGAAAAGATGACTCCAC	0.418																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	4											75	74	74					4																	106510409		2203	4300	6503	106729858	SO:0001583	missense	54848			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"Rho guanine nucleotide exchange factors"	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.201G>C	4.37:g.106510409G>C	ENSP00000416125:p.Lys67Asn		106729858	C9JIB4	Missense_Mutation	SNP	ENST00000420470.2	37	CCDS56338.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143436	0.57044	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	T;T	0.58210	1.75;0.35	5.4	4.55	0.56014	.	0.053466	0.64402	D	0.000001	T	0.65533	0.2700	M	0.71581	2.175	0.42057	D	0.991144	D	0.89917	1.0	D	0.85130	0.997	T	0.63804	-0.6554	10	0.21014	T	0.42	-6.4157	7.8012	0.29176	0.248:0.0:0.752:0.0	.	67	Q9NXL2	ARH38_HUMAN	N	67	ENSP00000265154:K67N;ENSP00000416125:K67N	ENSP00000265154:K67N	K	+	3	2	ARHGEF38	106729858	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	2.981000	0.49329	1.228000	0.43614	0.655000	0.94253	AAG		0.418	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		C	106510409	G	C	106510409	3	2	123	1	0	0	0	0	1	0	0	0	907	933	33	3	207	3	ARHGEF38	4	106510409	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	100885998	106510409	84643867	23	6712											
PDZD2	23037	hgsc.bcm.edu	37	5	32090123	32090123	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr5:32090123delT	ENST00000438447.1	+	20	6957	c.6569delT	c.(6568-6570)ctgfs	p.L2190fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.L2190fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2190	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.L2190fs*64(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						AAATCAAGCCTGATGTCAGAC	0.562																																																1	Deletion - Frameshift(1)	ovary(1)	5											83	96	91					5																	32090123		2203	4300	6503	32125880	SO:0001589	frameshift_variant	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.6569delT	5.37:g.32090123delT	ENSP00000402033:p.Leu2190fs		32125880	Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	CCDS34137.1																																																																																				0.562	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			-	32090123	T	-	32090123	7	5	123	1	0	1	0	1	0	0	0	0	11701	1580	55	0	6643	0	PDZD2	5	32090123	Frame_Shift_Del	DEL	T	TCGA-13-1408-01A-01W-0490-10		32090123	148825137	24	6713											
ADAMTS12	81792	hgsc.bcm.edu	37	5	33881281	33881281	+	Silent	SNP	C	C	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr5:33881281C>T	ENST00000504830.1	-	2	767	c.432G>A	c.(430-432)acG>acA	p.T144T	ADAMTS12_ENST00000515401.1_Silent_p.T144T|ADAMTS12_ENST00000352040.3_Silent_p.T144T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	144					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T144T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGTAGAACCGTGCCACTGA	0.567										HNSCC(64;0.19)																																						1	Substitution - coding silent(1)	ovary(1)	5											60	59	59					5																	33881281		2203	4300	6503	33917038	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.432G>A	5.37:g.33881281C>T			33917038	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.567	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33881281	C	T	33881281	2	4	123	1	0	0	0	0	0	0	0	1	257	639	23	1		1	ADAMTS12	5	33881281	Silent	SNP	C	TCGA-13-1408-01A-01W-0490-10	1791158	33881281	147033979	25	6714											
PRR16	51334	hgsc.bcm.edu	37	5	120021809	120021809	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr5:120021809C>A	ENST00000407149.2	+	2	529	c.320C>A	c.(319-321)cCa>cAa	p.P107Q	PRR16_ENST00000446965.1_Missense_Mutation_p.P37Q|PRR16_ENST00000505123.1_Missense_Mutation_p.P37Q|PRR16_ENST00000379551.2_Missense_Mutation_p.P84Q			Q569H4	LARGN_HUMAN	proline rich 16	107	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.P84Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ATTAAACCCCCAGCACACCCG	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											141	127	132					5																	120021809		2203	4300	6503	120049708	SO:0001583	missense	51334			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.320C>A	5.37:g.120021809C>A	ENSP00000385118:p.Pro107Gln		120049708	D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37		.	.	.	.	.	.	.	.	.	.	C	16.66	3.184157	0.57800	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.55588	0.62;0.57;0.52;0.51;0.51	5.58	4.71	0.59529	.	0.116884	0.64402	D	0.000019	T	0.63177	0.2489	L	0.56769	1.78	0.38553	D	0.949512	D;D	0.59357	0.985;0.985	P;P	0.58391	0.838;0.838	T	0.66056	-0.6018	9	.	.	.	-5.1179	13.2445	0.60016	0.0:0.9223:0.0:0.0777	.	107;84	Q569H4;Q569H4-3	PRR16_HUMAN;.	Q	107;84;37;37;37	ENSP00000385118:P107Q;ENSP00000368869:P84Q;ENSP00000421256:P37Q;ENSP00000423446:P37Q;ENSP00000405491:P37Q	.	P	+	2	0	PRR16	120049708	0.997000	0.39634	0.688000	0.30117	0.964000	0.63967	4.545000	0.60698	1.372000	0.46190	0.549000	0.68633	CCA		0.532	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		A	120021809	C	A	120021809	3	1	123	1	0	0	0	0	1	0	0	0	12592	594	21	3	257	3	PRR16	5	120021809	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10	86140528	120021809	60893451	26	6715											
PCDHB15	56121	hgsc.bcm.edu	37	5	140625295	140625297	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	ATG	ATG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr5:140625295_140625297delATG	ENST00000231173.3	+	1	149_151	c.149_151delATG	c.(148-153)aatgac>aac	p.D51del		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D51delD(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCTGGCCAATGACCTAGGGCT	0.562																																																1	Deletion - In frame(1)	ovary(1)	5																																								140605481	SO:0001651	inframe_deletion	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.149_151delATG	5.37:g.140625295_140625297delATG	ENSP00000231173:p.Asp51del		140605479	Q8IUX5	In_Frame_Del	DEL	ENST00000231173.3	37	CCDS4257.1																																																																																				0.562	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		-	140625297	ATG	-	140625295	7	5	123	1	0	1	0	1	0	0	0	0	11540	101	4	0	151	0	PCDHB15	5	140625295	In_Frame_Del	DEL	ATG	TCGA-13-1408-01A-01W-0490-10	20603486	140625295	40289965	27	6716											
EPHA7	2045	hgsc.bcm.edu	37	6	93967899	93967899	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr6:93967899C>A	ENST00000369303.4	-	11	2212	c.2028G>T	c.(2026-2028)agG>agT	p.R676S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R676S(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAAAGTCTCTCCTTTGTTTTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	6											140	140	140					6																	93967899		2203	4300	6503	94024620	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2028G>T	6.37:g.93967899C>A	ENSP00000358309:p.Arg676Ser		94024620	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890825	0.72524	.	.	ENSG00000135333	ENST00000369303	D	0.82433	-1.61	6.08	2.93	0.34026	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	L	0.37750	1.13	0.80722	D	1	D;D;D	0.62365	0.988;0.989;0.991	D;P;P	0.67382	0.951;0.827;0.892	T	0.82378	-0.0487	10	0.87932	D	0	.	10.5997	0.45360	0.0:0.7153:0.0:0.2847	.	672;671;676	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	S	676	ENSP00000358309:R676S	ENSP00000358309:R676S	R	-	3	2	EPHA7	94024620	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.402000	0.20965	0.899000	0.36444	0.591000	0.81541	AGG		0.428	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			A	93967899	C	A	93967899	3	1	123	1	0	0	0	0	1	0	0	0	5172	854	30	3	996	3	EPHA7	6	93967899	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10		93967899	77147168	28	6717											
SIM1	6492	hgsc.bcm.edu	37	6	100838725	100838725	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr6:100838725A>T	ENST00000369208.3	-	12	2595	c.1813T>A	c.(1813-1815)Tgt>Agt	p.C605S	SIM1_ENST00000262901.4_Missense_Mutation_p.C605S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	605	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.C605S(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTGCAAAACACAGGGAGTGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	6											78	80	79					6																	100838725		2203	4300	6503	100945446	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1813T>A	6.37:g.100838725A>T	ENSP00000358210:p.Cys605Ser		100945446	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.391704	0.42410	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03689	3.84;3.84	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.01092	0.0036	N	0.19112	0.55	0.58432	D	0.999992	B	0.19445	0.036	B	0.19666	0.026	T	0.34800	-0.9814	10	0.06099	T	0.92	.	16.1986	0.82053	1.0:0.0:0.0:0.0	.	605	P81133	SIM1_HUMAN	S	605	ENSP00000358210:C605S;ENSP00000262901:C605S	ENSP00000262901:C605S	C	-	1	0	SIM1	100945446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.912000	0.63335	2.227000	0.72691	0.455000	0.32223	TGT		0.488	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100838725	A	T	100838725	3	4	123	1	0	0	0	0	1	0	0	0	14326	159	6	5	491	5	SIM1	6	100838725	Missense_Mutation	SNP	A	TCGA-13-1408-01A-01W-0490-10	6870826	100838725	70276342	29	6718											
PDSS2	57107	hgsc.bcm.edu	37	6	107595359	107595359	+	Silent	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr6:107595359T>C	ENST00000369037.4	-	3	781	c.504A>G	c.(502-504)ttA>ttG	p.L168L	PDSS2_ENST00000453874.2_Silent_p.L168L|PDSS2_ENST00000369031.4_Silent_p.L168L	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	168					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.L168L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCAACTCATTTAAATTTACTA	0.368																																																1	Substitution - coding silent(1)	ovary(1)	6											92	87	88					6																	107595359		2203	4300	6503	107702052	SO:0001819	synonymous_variant	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"chromosome 6 open reading frame 210"	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.504A>G	6.37:g.107595359T>C			107702052	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	ENST00000369037.4	37	CCDS5059.1																																																																																				0.368	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		C	107595359	T	C	107595359	2	2	123	1	0	0	0	0	0	0	0	1	11694	1751	61	4		4	PDSS2	6	107595359	Silent	SNP	T	TCGA-13-1408-01A-01W-0490-10	6756634	107595359	63519708	30	6719											
ZMIZ2	83637	hgsc.bcm.edu	37	7	44800159	44800159	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:44800159C>G	ENST00000309315.4	+	9	1330	c.1207C>G	c.(1207-1209)Ccc>Gcc	p.P403A	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P403A|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P371A|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P377A|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P345A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	403	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.P403A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGATCTCAAGCCCAACCTCAA	0.587																																					NSCLC(20;604 852 1948 16908 50522)											1	Substitution - Missense(1)	ovary(1)	7											173	180	178					7																	44800159		2136	4261	6397	44766684	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1207C>G	7.37:g.44800159C>G	ENSP00000311778:p.Pro403Ala		44766684	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399754	0.83120	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000037	T	0.57403	0.2051	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.997	D;P;D	0.63877	0.919;0.831;0.919	T	0.58142	-0.7688	10	0.52906	T	0.07	-10.0132	19.0583	0.93076	0.0:1.0:0.0:0.0	.	377;403;345	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	A	345;403;403;371;377;403	ENSP00000409648:P345A;ENSP00000311778:P403A;ENSP00000414723:P403A;ENSP00000396601:P371A;ENSP00000265346:P377A	ENSP00000265346:P377A	P	+	1	0	ZMIZ2	44766684	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.681000	0.54648	2.599000	0.87857	0.561000	0.74099	CCC		0.587	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		G	44800159	C	G	44800159	3	3	123	1	0	0	0	0	1	0	0	0	17697	739	26	3	1237	3	ZMIZ2	7	44800159	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10		44800159	114338504	31	6720											
ZMIZ2	83637	hgsc.bcm.edu	37	7	44804074	44804074	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:44804074T>A	ENST00000309315.4	+	14	2040	c.1917T>A	c.(1915-1917)tgT>tgA	p.C639*	ZMIZ2_ENST00000441627.1_Nonsense_Mutation_p.C639*|ZMIZ2_ENST00000433667.1_Nonsense_Mutation_p.C607*|ZMIZ2_ENST00000265346.7_Nonsense_Mutation_p.C613*|ZMIZ2_ENST00000413916.1_Nonsense_Mutation_p.C581*	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	639					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.C639*(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTGGAGGTGTCCTGTGTGCA	0.517																																					NSCLC(20;604 852 1948 16908 50522)											1	Substitution - Nonsense(1)	ovary(1)	7											109	118	115					7																	44804074		2202	4300	6502	44770599	SO:0001587	stop_gained	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1917T>A	7.37:g.44804074T>A	ENSP00000311778:p.Cys639*		44770599	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Nonsense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	T	38	6.775669	0.97829	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	.	.	.	5.05	0.316	0.15857	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.443	7.4739	0.27365	0.0:0.394:0.0:0.606	.	.	.	.	X	581;639;639;607;613;642	.	ENSP00000265346:C613X	C	+	3	2	ZMIZ2	44770599	0.999000	0.42202	0.997000	0.53966	0.954000	0.61252	0.535000	0.23114	0.191000	0.20236	-0.608000	0.04076	TGT		0.517	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		A	44804074	T	A	44804074	4	1	123	1	0	0	0	0	0	1	0	0	17697	1673	58	5	1967	5	ZMIZ2	7	44804074	Nonsense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10	3915	44804074	114334589	32	6721											
EGFR	1956	hgsc.bcm.edu	37	7	55224456	55224456	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:55224456delT	ENST00000275493.2	+	10	1315	c.1138delT	c.(1138-1140)tccfs	p.S380fs	EGFR_ENST00000442591.1_Frame_Shift_Del_p.S380fs|EGFR_ENST00000420316.2_Frame_Shift_Del_p.S380fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.S335fs|EGFR_ENST00000344576.2_Frame_Shift_Del_p.S380fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.S380fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.S327fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	380					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S380fs*16(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTTCAGTGACTCCTTCACACA	0.373		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	2	Deletion - Frameshift(2)	ovary(2)	7											115	109	111					7																	55224456		2203	4300	6503	55191950	SO:0001589	frameshift_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1138delT	7.37:g.55224456delT	ENSP00000275493:p.Ser380fs		55191950	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Frame_Shift_Del	DEL	ENST00000275493.2	37	CCDS5514.1																																																																																				0.373	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		-	55224456	T	-	55224456	7	5	123	1	0	1	0	1	0	0	0	0	4967	1551	54	0	1176	0	EGFR	7	55224456	Frame_Shift_Del	DEL	T	TCGA-13-1408-01A-01W-0490-10	10420382	55224456	103914207	33	6722											
AGAP3	116988	hgsc.bcm.edu	37	7	150837160	150837160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:150837160delC	ENST00000397238.2	+	13	1761	c.1761delC	c.(1759-1761)agcfs	p.S587fs	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	551	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.S587fs*104(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAAAAAGAGCACCGGGACCC	0.642																																																1	Deletion - Frameshift(1)	ovary(1)	7											22	29	27					7																	150837160		1847	4088	5935	150468093	SO:0001589	frameshift_variant	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.1761delC	7.37:g.150837160delC	ENSP00000380413:p.Ser587fs		150468093	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Frame_Shift_Del	DEL	ENST00000397238.2	37	CCDS43681.1																																																																																				0.642	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		-	150837160	C	-	150837160	7	5	123	1	0	1	0	1	0	0	0	0	369	709	25	0	1878	0	AGAP3	7	150837160	Frame_Shift_Del	DEL	C	TCGA-13-1408-01A-01W-0490-10	95612704	150837160	8301503	34	6723											
NOM1	64434	hgsc.bcm.edu	37	7	156759098	156759098	+	Splice_Site	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr7:156759098T>A	ENST00000275820.3	+	8	2181		c.e8+2			NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1							nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGATTTCAGGTAGCTTAGTGC	0.468																																																1	Unknown(1)	ovary(1)	7											135	118	124					7																	156759098		2203	4300	6503	156451859	SO:0001630	splice_region_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2166+2T>A	7.37:g.156759098T>A			156451859	Q96I08	Splice_Site	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024788	0.75390	.	.	ENSG00000146909	ENST00000275820	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5316	0.67929	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NOM1	156451859	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	7.590000	0.82653	1.830000	0.53286	0.533000	0.62120	.		0.468	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	Intron	A	156759098	T	A	156759098	5	1	123	1	0	0	0	0	0	0	1	0	10530	1652	57	5	2198	5	NOM1	7	156759098	Splice_Site	SNP	T	TCGA-13-1408-01A-01W-0490-10	5921938	156759098	2379565	35	6724											
PTK2B	2185	hgsc.bcm.edu	37	8	27293836	27293836	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr8:27293836G>C	ENST00000397501.1	+	20	2120	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	PTK2B_ENST00000544172.1_Missense_Mutation_p.E438Q|PTK2B_ENST00000346049.5_Missense_Mutation_p.E438Q|PTK2B_ENST00000397497.4_Missense_Mutation_p.E184Q|PTK2B_ENST00000338238.4_Missense_Mutation_p.E438Q|PTK2B_ENST00000420218.2_Missense_Mutation_p.E438Q|PTK2B_ENST00000517339.1_Missense_Mutation_p.E438Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	438	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.E184Q(1)|p.E438Q(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTTTTTTGGGGAGGTCTATGA	0.488																																																2	Substitution - Missense(2)	ovary(2)	8											293	266	276					8																	27293836		2203	4300	6503	27349753	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1312G>C	8.37:g.27293836G>C	ENSP00000380638:p.Glu438Gln		27349753	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254465	0.95336	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85902	0.5805	L	0.31420	0.93	0.80722	D	1	D;D;D;D	0.65815	0.982;0.995;0.989;0.995	P;D;P;D	0.66602	0.874;0.945;0.8;0.945	D	0.87576	0.2481	10	0.87932	D	0	.	16.7686	0.85531	0.0:0.0:1.0:0.0	.	443;184;438;438	Q59GM4;E9PBI4;Q14289-2;Q14289	.;.;.;FAK2_HUMAN	Q	438;443;438;438;438;438;438;184	ENSP00000380638:E438Q;ENSP00000342242:E438Q;ENSP00000440926:E438Q;ENSP00000332816:E438Q;ENSP00000391995:E438Q;ENSP00000427931:E438Q;ENSP00000380634:E184Q	ENSP00000342242:E438Q	E	+	1	0	PTK2B	27349753	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.916000	0.92745	2.558000	0.86282	0.655000	0.94253	GAG		0.488	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		C	27293836	G	C	27293836	3	2	123	1	0	0	0	0	1	0	0	0	12766	1175	41	3	1366	3	PTK2B	8	27293836	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10		27293836	119070186	36	6725											
VPS13B	157680	hgsc.bcm.edu	37	8	100866453	100866453	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr8:100866453G>T	ENST00000358544.2	+	56	11022	c.10911G>T	c.(10909-10911)atG>atT	p.M3637I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.M3612I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3637					protein transport (GO:0015031)			p.M3637I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCTGGCAATGCACTATGCCG	0.552																																					Colon(161;2205 2542 7338 31318)											1	Substitution - Missense(1)	ovary(1)	8											70	57	62					8																	100866453		2203	4300	6503	100935629	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10911G>T	8.37:g.100866453G>T	ENSP00000351346:p.Met3637Ile		100935629	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159237	0.57368	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69806	-0.43;-0.43	5.5	4.62	0.57501	.	0.041837	0.85682	N	0.000000	T	0.65933	0.2739	M	0.66939	2.045	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.63681	-0.6582	10	0.48119	T	0.1	.	15.6996	0.77533	0.0:0.0:0.862:0.138	.	3612;3637	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	I	3612;3637	ENSP00000349685:M3612I;ENSP00000351346:M3637I	ENSP00000349685:M3612I	M	+	3	0	VPS13B	100935629	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.387000	0.79785	1.287000	0.44583	0.650000	0.86243	ATG		0.552	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100866453	G	T	100866453	3	4	123	1	0	0	0	0	1	0	0	0	17190	1319	46	3	11323	3	VPS13B	8	100866453	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	73572617	100866453	45497569	37	6726											
TRPM3	80036	hgsc.bcm.edu	37	9	73478010	73478010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr9:73478010delC	ENST00000377111.2	-	3	519	c.276delG	c.(274-276)ctgfs	p.L92fs	TRPM3_ENST00000377097.3_5'Flank|TRPM3_ENST00000377110.3_Frame_Shift_Del_p.L92fs|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000423814.3_Frame_Shift_Del_p.L94fs|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000357533.2_Frame_Shift_Del_p.L94fs|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000408909.2_5'Flank	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	92					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.I95fs*1(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTGGCCTATCAGACGCCCAC	0.473																																																1	Deletion - Frameshift(1)	ovary(1)	9											78	85	82					9																	73478010		2203	4299	6502	72667830	SO:0001589	frameshift_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.276delG	9.37:g.73478010delC	ENSP00000366315:p.Leu92fs		72667830	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Frame_Shift_Del	DEL	ENST00000377111.2	37																																																																																					0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		-	73478010	C	-	73478010	7	5	123	1	0	1	0	1	0	0	0	0	16587	813	29	0	5062	0	TRPM3	9	73478010	Frame_Shift_Del	DEL	C	TCGA-13-1408-01A-01W-0490-10		73478010	67735421	38	6727											
AKAP2	11217	hgsc.bcm.edu	37	9	112899745	112899745	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr9:112899745G>A	ENST00000259318.7	+	2	1435	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	AKAP2_ENST00000510514.5_Missense_Mutation_p.A641T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A499T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A499T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A641T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A641T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A641T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	410								p.A499T(1)|p.A641T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGGCAACACAGCCTCTCAGGG	0.622																																																2	Substitution - Missense(2)	ovary(2)	9											60	65	64					9																	112899745		2203	4300	6503	111939566	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1228G>A	9.37:g.112899745G>A	ENSP00000259318:p.Ala410Thr		111939566	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470203	0.26423	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.47869	2.17;2.17;2.17;2.17;1.41;0.83;0.84;1.43	5.97	3.17	0.36434	.	0.597033	0.17590	N	0.168803	T	0.25232	0.0613	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B;B;B	0.13145	0.002;0.004;0.007;0.004;0.002;0.006;0.003;0.002	B;B;B;B;B;B;B;B	0.13407	0.003;0.009;0.007;0.009;0.004;0.007;0.007;0.001	T	0.16335	-1.0406	10	0.20519	T	0.43	-11.578	10.0542	0.42235	0.214:0.0:0.786:0.0	.	410;499;493;499;500;641;641;459	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	641;641;641;641;499;499;459;410	ENSP00000363654:A641T;ENSP00000305861:A641T;ENSP00000451476:A641T;ENSP00000421522:A641T;ENSP00000404782:A499T;ENSP00000363649:A499T;ENSP00000419268:A459T;ENSP00000259318:A410T	ENSP00000259318:A410T	A	+	1	0	PALM2-AKAP2;AKAP2	111939566	0.000000	0.05858	0.259000	0.24435	0.884000	0.51177	0.359000	0.20233	0.873000	0.35799	0.655000	0.94253	GCC		0.622	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		A	112899745	G	A	112899745	3	1	123	1	0	0	0	0	1	0	0	0	451	971	34	2	1501	2	AKAP2	9	112899745	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	39421735	112899745	28313686	39	6728											
METTL11A	28989	hgsc.bcm.edu	37	9	132395065	132395065	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr9:132395065delA	ENST00000372486.1	+	2	432	c.83delA	c.(82-84)gacfs	p.D28fs	NTMT1_ENST00000372483.4_Frame_Shift_Del_p.D28fs|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372480.1_Frame_Shift_Del_p.D28fs|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000459968.2_Frame_Shift_Del_p.D28fs|NTMT1_ENST00000372481.3_Frame_Shift_Del_p.D28fs			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	28					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)	p.D28fs*26(1)									CCCACGGTGGACGGCATGCTT	0.552																																																1	Deletion - Frameshift(1)	ovary(1)	9											170	139	149					9																	132395065		2203	4300	6503	131434886	SO:0001589	frameshift_variant	28989			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.83delA	9.37:g.132395065delA	ENSP00000361564:p.Asp28fs		131434886	A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Frame_Shift_Del	DEL	ENST00000372486.1	37	CCDS35160.1																																																																																				0.552	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		-	132395065	A	-	132395065	7	5	123	1	0	1	0	1	0	0	0	0	9495	275	10	0	85	0	METTL11A	9	132395065	Frame_Shift_Del	DEL	A	TCGA-13-1408-01A-01W-0490-10	19495320	132395065	8818366	40	6729											
C9orf171	389799	hgsc.bcm.edu	37	9	135413034	135413034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr9:135413034delC	ENST00000343036.2	+	5	727	c.679delC	c.(679-681)ctgfs	p.L227fs	C9orf171_ENST00000393216.2_Frame_Shift_Del_p.L191fs	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	227										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GTACCTGCAGCTGTGGGTACA	0.562																																																0			9											105	106	106					9																	135413034		2203	4300	6503	134402855	SO:0001589	frameshift_variant	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.679delC	9.37:g.135413034delC	ENSP00000343290:p.Leu227fs		134402855	Q147X1	Frame_Shift_Del	DEL	ENST00000343036.2	37	CCDS6949.1																																																																																				0.562	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		-	135413034	C	-	135413034	7	5	123	1	0	1	0	1	0	0	0	0	2470	796	28	0	697	0	C9orf171	9	135413034	Frame_Shift_Del	DEL	C	TCGA-13-1408-01A-01W-0490-10	3017969	135413034	5800397	41	6730											
FRMD4A	55691	hgsc.bcm.edu	37	10	13701407	13701408	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr10:13701407_13701408delCC	ENST00000357447.2	-	21	2349_2350	c.1981_1982delGG	c.(1981-1983)ggcfs	p.G661fs	FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.G646fs|FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.G661fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	661	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.G661fs*45(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GTGCGGGAGGCCGCGGATGGGG	0.653																																																1	Deletion - Frameshift(1)	ovary(1)	10																																								13741414	SO:0001589	frameshift_variant	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1981_1982delGG	10.37:g.13701407_13701408delCC	ENSP00000350032:p.Gly661fs		13741413	A7E2Y3|Q5T377	Frame_Shift_Del	DEL	ENST00000357447.2	37	CCDS7101.1																																																																																				0.653	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		-	13701408	CC	-	13701407	7	5	123	1	0	1	0	1	0	0	0	0	6051	739	26	0	1153	0	FRMD4A	10	13701407	Frame_Shift_Del	DEL	CC	TCGA-13-1408-01A-01W-0490-10		13701407	121833340	42	6731											
JAKMIP3	282973	hgsc.bcm.edu	37	10	133949538	133949539	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr10:133949538_133949539insT	ENST00000298622.4	+	5	1212_1213	c.1074_1075insT	c.(1075-1077)gaafs	p.E359fs		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	359						Golgi apparatus (GO:0005794)		p.E359fs*1(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TACGCCGAATGGAAAACAAGTT	0.535																																																1	Insertion - Frameshift(1)	ovary(1)	10																																								133799529	SO:0001589	frameshift_variant	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	Exception_encountered	10.37:g.133949538_133949539insT	ENSP00000298622:p.Glu359fs		133799528	A6PW00|Q69YM6|Q6ZT29	Frame_Shift_Ins	INS	ENST00000298622.4	37	CCDS44494.1																																																																																				0.535	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		T	133949539	-	T	133949538	7	5	123	1	0	1	1	0	0	0	0	0	7942	1348	47	0	1092	0	JAKMIP3	10	133949538	Frame_Shift_Ins	INS	-	TCGA-13-1408-01A-01W-0490-10	120248131	133949538	1585209	43	6732											
QSER1	79832	hgsc.bcm.edu	37	11	32979495	32979495	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr11:32979495C>A	ENST00000399302.2	+	8	4780	c.4445C>A	c.(4444-4446)tCc>tAc	p.S1482Y	QSER1_ENST00000527788.1_Missense_Mutation_p.S1243Y	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1482								p.S1482Y(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)					AAAGCCCCTTCCGTGAAACCC	0.388																																																1	Substitution - Missense(1)	ovary(1)	11											65	61	62					11																	32979495		1839	4088	5927	32936071	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.4445C>A	11.37:g.32979495C>A	ENSP00000382241:p.Ser1482Tyr		32936071	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.865672|3.865672	0.71949|0.71949	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.26373	.|2.07;1.74	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.64402	.|D	.|0.000006	T|T	0.52322|0.52322	0.1727|0.1727	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.996;0.993;1.0	.|D;P;D	.|0.85130	.|0.939;0.884;0.997	T|T	0.49173|0.49173	-0.8967|-0.8967	5|10	.|0.87932	.|D	.|0	.|.	20.2861|20.2861	0.98535|0.98535	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1243;1243;1482	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	T|Y	503|1482;1243;1243	.|ENSP00000382241:S1482Y;ENSP00000432766:S1243Y	.|ENSP00000078652:S1243Y	P|S	+|+	1|2	0|0	QSER1|QSER1	32936071|32936071	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.386000|0.386000	0.30323|0.30323	6.267000|6.267000	0.72546|0.72546	2.786000|2.786000	0.95864|0.95864	0.650000|0.650000	0.86243|0.86243	CCG|TCC		0.388	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		A	32979495	C	A	32979495	3	1	123	1	0	0	0	0	1	0	0	0	12885	855	30	3	4467	3	QSER1	11	32979495	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10		32979495	102027021	44	6733											
MYBPC3	4607	hgsc.bcm.edu	37	11	47359110	47359110	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr11:47359110T>G	ENST00000545968.1	-	25	2488	c.2434A>C	c.(2434-2436)Aag>Cag	p.K812Q	MYBPC3_ENST00000399249.2_Missense_Mutation_p.K812Q|MYBPC3_ENST00000256993.4_Missense_Mutation_p.K811Q	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	812	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.K812Q(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CTCTTCTTCTTCTTGCGCTCC	0.607																																																1	Substitution - Missense(1)	ovary(1)	11											84	89	87					11																	47359110		2138	4245	6383	47315686	SO:0001583	missense	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2434A>C	11.37:g.47359110T>G	ENSP00000442795:p.Lys812Gln		47315686	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864919	0.91511	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.56611	0.45;0.45;0.45	4.6	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71467	0.3343	M	0.75615	2.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.76038	-0.3105	9	0.87932	D	0	.	14.1697	0.65500	0.0:0.0:0.0:1.0	.	811	Q14896	MYPC3_HUMAN	Q	812;812;811	ENSP00000442795:K812Q;ENSP00000382193:K812Q;ENSP00000256993:K811Q	ENSP00000256993:K811Q	K	-	1	0	MYBPC3	47315686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.525000	0.81892	1.941000	0.56285	0.459000	0.35465	AAG		0.607	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			G	47359110	T	G	47359110	3	3	123	1	0	0	0	0	1	0	0	0	10013	1792	62	5	1430	5	MYBPC3	11	47359110	Missense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10	14379615	47359110	87647406	45	6734											
SPTBN2	6712	hgsc.bcm.edu	37	11	66457568	66457568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr11:66457568C>A	ENST00000533211.1	-	28	6083	c.5752G>T	c.(5752-5754)Gaa>Taa	p.E1918*	SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.E1918*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.E1918*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1918					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.E1918*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCATCAGTTCCCGGACAGCC	0.647																																																1	Substitution - Nonsense(1)	ovary(1)	11											116	116	116					11																	66457568		2200	4295	6495	66214144	SO:0001587	stop_gained	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5752G>T	11.37:g.66457568C>A	ENSP00000432568:p.Glu1918*		66214144	O14872|O14873	Nonsense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	47	13.771287	0.99762	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	.	.	.	5.12	5.12	0.69794	.	0.106571	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.4906	0.87702	0.0:1.0:0.0:0.0	.	.	.	.	X	1918	.	ENSP00000311489:E1918X	E	-	1	0	SPTBN2	66214144	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	7.599000	0.82757	2.664000	0.90586	0.655000	0.94253	GAA		0.647	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		A	66457568	C	A	66457568	4	1	123	1	0	0	0	0	0	1	0	0	15122	864	30	3	1464	3	SPTBN2	11	66457568	Nonsense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10	19098458	66457568	68548948	46	6735											
ARAP1	116985	hgsc.bcm.edu	37	11	72406812	72406812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr11:72406812delG	ENST00000393609.3	-	24	3573	c.3371delC	c.(3370-3372)gctfs	p.A1124fs	ARAP1_ENST00000429686.1_Frame_Shift_Del_p.A818fs|ARAP1_ENST00000393605.3_Frame_Shift_Del_p.A884fs|ARAP1_ENST00000359373.5_Frame_Shift_Del_p.A1124fs|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Frame_Shift_Del_p.A879fs|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.A1124fs|ARAP1_ENST00000334211.8_Frame_Shift_Del_p.A879fs	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1124	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A884fs*34(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACACGGCCAGCCTTGTAGTC	0.557																																					Ovarian(102;1198 1520 13195 17913 37529)											1	Deletion - Frameshift(1)	ovary(1)	11											123	86	99					11																	72406812		2200	4293	6493	72084460	SO:0001589	frameshift_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3371delC	11.37:g.72406812delG	ENSP00000377233:p.Ala1124fs		72084460	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Del	DEL	ENST00000393609.3	37	CCDS41687.1																																																																																				0.557	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		-	72406812	G	-	72406812	7	5	123	1	0	1	0	1	0	0	0	0	838	971	34	0	1029	0	ARAP1	11	72406812	Frame_Shift_Del	DEL	G	TCGA-13-1408-01A-01W-0490-10	5949244	72406812	62599704	47	6736											
C1QL4	338761	hgsc.bcm.edu	37	12	49726968	49726969	+	Frame_Shift_Ins	INS	-	-	TT	rs144828464	byFrequency	TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr12:49726968_49726969insTT	ENST00000334221.3	-	2	1295_1296	c.585_586insAA	c.(583-588)tacgccfs	p.A196fs		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	196	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.A196fs*>44(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						CTGTTGCTGGCGTAGTCGTAGT	0.604																																																1	Insertion - Frameshift(1)	ovary(1)	12																																								48013236	SO:0001589	frameshift_variant	338761				CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.585_586insAA	12.37:g.49726968_49726969insTT	ENSP00000335285:p.Ala196fs		48013235		Frame_Shift_Ins	INS	ENST00000334221.3	37	CCDS31793.1																																																																																				0.604	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223		TT	49726969	-	TT	49726968	7	5	123	1	0	1	1	0	0	0	0	0	1961	768	27	0	134	0	C1QL4	12	49726968	Frame_Shift_Ins	INS	-	TCGA-13-1408-01A-01W-0490-10		49726968	84124927	48	6737											
LRP1	4035	hgsc.bcm.edu	37	12	57578193	57578193	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr12:57578193C>G	ENST00000243077.3	+	38	6610	c.6144C>G	c.(6142-6144)aaC>aaG	p.N2048K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2048					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.N2048K(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCTGGTCAACGTCAGCATCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	12											139	110	119					12																	57578193		2203	4300	6503	55864460	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6144C>G	12.37:g.57578193C>G	ENSP00000243077:p.Asn2048Lys		55864460	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478418	0.63849	.	.	ENSG00000123384	ENST00000243077	D	0.95518	-3.73	5.3	-9.47	0.00594	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.91185	0.7223	L	0.28694	0.88	0.80722	D	1	P	0.48640	0.913	P	0.50537	0.643	D	0.91070	0.4892	10	0.39692	T	0.17	.	13.978	0.64285	0.0912:0.6501:0.0:0.2587	.	2048	Q07954	LRP1_HUMAN	K	2048	ENSP00000243077:N2048K	ENSP00000243077:N2048K	N	+	3	2	LRP1	55864460	0.000000	0.05858	0.327000	0.25402	0.601000	0.36947	-1.211000	0.02997	-1.931000	0.01055	-1.036000	0.02392	AAC		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		G	57578193	C	G	57578193	3	3	123	1	0	0	0	0	1	0	0	0	8951	535	19	3	6294	3	LRP1	12	57578193	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10	7851225	57578193	76273702	49	6738											
NAV3	89795	hgsc.bcm.edu	37	12	78513199	78513199	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr12:78513199T>C	ENST00000397909.2	+	15	3396	c.3223T>C	c.(3223-3225)Tca>Cca	p.S1075P	NAV3_ENST00000228327.6_Missense_Mutation_p.S1075P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1075P|NAV3_ENST00000536525.2_Missense_Mutation_p.S1075P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1075	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S1075P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGAGTAGGGTCATCTGCCAT	0.498										HNSCC(70;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											65	67	66					12																	78513199		1948	4157	6105	77037330	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3223T>C	12.37:g.78513199T>C	ENSP00000381007:p.Ser1075Pro		77037330	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.824|9.824	1.186455|1.186455	0.21870|0.21870	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.32988|.	1.43;1.43;1.43;1.43|.	5.81|5.81	4.65|4.65	0.58169|0.58169	.|.	0.230357|.	0.21887|.	U|.	0.067648|.	T|T	0.58278|0.58278	0.2111|0.2111	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;D;B;B|.	0.71674|.	0.255;0.998;0.374;0.039|.	B;D;B;B|.	0.64877|.	0.302;0.93;0.247;0.093|.	T|T	0.53606|0.53606	-0.8415|-0.8415	10|5	0.62326|.	D|.	0.03|.	-6.1039|-6.1039	12.8736|12.8736	0.57978|0.57978	0.0:0.0:0.1408:0.8592|0.0:0.0:0.1408:0.8592	.|.	1075;1075;1075;1075|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	P|A	1075|146	ENSP00000446132:S1075P;ENSP00000381007:S1075P;ENSP00000228327:S1075P;ENSP00000266692:S1075P|.	ENSP00000228327:S1075P|.	S|V	+|+	1|2	0|0	NAV3|NAV3	77037330|77037330	0.999000|0.999000	0.42202|0.42202	0.102000|0.102000	0.21198|0.21198	0.323000|0.323000	0.28346|0.28346	3.925000|3.925000	0.56484|0.56484	0.998000|0.998000	0.38996|0.38996	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		C	78513199	T	C	78513199	3	2	123	1	0	0	0	0	1	0	0	0	10185	1667	58	4	3281	4	NAV3	12	78513199	Missense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10	20935006	78513199	55338696	50	6739											
RASA3	22821	hgsc.bcm.edu	37	13	114817542	114817542	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr13:114817542T>A	ENST00000334062.7	-	3	383	c.262A>T	c.(262-264)Agg>Tgg	p.R88W	RASA3_ENST00000389544.4_Missense_Mutation_p.R56W|RASA3_ENST00000542651.1_Missense_Mutation_p.R88W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	88	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.R88W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATGGAATCCCTCCGGAAAACG	0.463																																																1	Substitution - Missense(1)	ovary(1)	13											93	88	90					13																	114817542		2203	4300	6503	113835644	SO:0001583	missense	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.262A>T	13.37:g.114817542T>A	ENSP00000335029:p.Arg88Trp		113835644	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215388	0.79352	.	.	ENSG00000185989	ENST00000334062;ENST00000389544;ENST00000542651	T;T;T	0.70749	-0.51;-0.51;2.87	4.96	2.47	0.30058	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.109676	0.64402	D	0.000008	T	0.74030	0.3663	M	0.87682	2.9	0.80722	D	1	P	0.51537	0.946	P	0.46850	0.529	T	0.72290	-0.4337	9	.	.	.	.	6.9454	0.24516	0.0:0.0807:0.1504:0.7689	.	88	Q14644	RASA3_HUMAN	W	88;56;88	ENSP00000335029:R88W;ENSP00000374195:R56W;ENSP00000439008:R88W	.	R	-	1	2	RASA3	113835644	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.962000	0.63687	0.237000	0.21200	0.460000	0.39030	AGG		0.463	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		A	114817542	T	A	114817542	3	1	123	1	0	0	0	0	1	0	0	0	13065	1550	54	5	2330	5	RASA3	13	114817542	Missense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10		114817542	352336	51	6740											
SPTB	6710	hgsc.bcm.edu	37	14	65262170	65262172	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr14:65262170_65262172delCAT	ENST00000389721.5	-	11	1559_1561	c.1527_1529delATG	c.(1525-1530)ctatgg>ctg	p.W510del	SPTB_ENST00000389722.3_In_Frame_Del_p.W510del|SPTB_ENST00000556626.1_In_Frame_Del_p.W510del|SPTB_ENST00000542895.1_In_Frame_Del_p.W510del|SPTB_ENST00000389720.3_In_Frame_Del_p.W510del	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	510					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.W510delW(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGGTAGCTCCATAGGCGCAGTA	0.611																																																1	Deletion - In frame(1)	ovary(1)	14																																								64331925	SO:0001651	inframe_deletion	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1527_1529delATG	14.37:g.65262170_65262172delCAT	ENSP00000374371:p.Trp510del		64331923	Q15510|Q15519	In_Frame_Del	DEL	ENST00000389721.5	37	CCDS32100.1																																																																																				0.611	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			-	65262172	CAT	-	65262170	7	5	123	1	0	1	0	1	0	0	0	0	15120	595	21	0	5626	0	SPTB	14	65262170	In_Frame_Del	DEL	CAT	TCGA-13-1408-01A-01W-0490-10		65262170	42087370	52	6741											
TECPR2	9895	hgsc.bcm.edu	37	14	102901037	102901037	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr14:102901037A>T	ENST00000359520.7	+	9	2109	c.1883A>T	c.(1882-1884)gAa>gTa	p.E628V	TECPR2_ENST00000558678.1_Missense_Mutation_p.E628V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	628					autophagy (GO:0006914)|cell death (GO:0008219)			p.E628V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CATGATGGGGAAGACATCCAA	0.562																																																1	Substitution - Missense(1)	ovary(1)	14											68	51	57					14																	102901037		2203	4300	6503	101970790	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1883A>T	14.37:g.102901037A>T	ENSP00000352510:p.Glu628Val		101970790	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.734430	0.30774	.	.	ENSG00000196663	ENST00000359520	T	0.16457	2.34	5.33	-3.46	0.04767	.	2.197700	0.01621	N	0.023032	T	0.08670	0.0215	N	0.14661	0.345	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.14023	0.01;0.01	T	0.16897	-1.0387	9	.	.	.	.	2.6928	0.05125	0.5134:0.1338:0.2488:0.1041	.	628;628	A5PKY3;O15040	.;TCPR2_HUMAN	V	628	ENSP00000352510:E628V	.	E	+	2	0	TECPR2	101970790	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.106000	0.15354	-0.961000	0.03609	0.374000	0.22700	GAA		0.562	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		T	102901037	A	T	102901037	3	4	123	1	0	0	0	0	1	0	0	0	15744	246	9	5	1913	5	TECPR2	14	102901037	Missense_Mutation	SNP	A	TCGA-13-1408-01A-01W-0490-10	37638867	102901037	4448503	53	6742											
SPG7	6687	hgsc.bcm.edu	37	16	89613094	89613095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr16:89613094_89613095insG	ENST00000268704.2	+	11	1493_1494	c.1478_1479insG	c.(1477-1482)ctgaagfs	p.K494fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	494					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.K494fs*27(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGCAGCACCTGAAGAGCCTGA	0.574																																																1	Insertion - Frameshift(1)	ovary(1)	16																																								88140596	SO:0001589	frameshift_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1479dupG	16.37:g.89613095_89613095dupG	ENSP00000268704:p.Lys494fs		88140595	O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Ins	INS	ENST00000268704.2	37	CCDS10977.1																																																																																				0.574	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		G	89613095	-	G	89613094	7	5	123	1	0	1	1	0	0	0	0	0	15046	1580	55	0	1670	0	SPG7	16	89613094	Frame_Shift_Ins	INS	-	TCGA-13-1408-01A-01W-0490-10		89613094	741659	54	6743											
GSG2	83903	hgsc.bcm.edu	37	17	3628064	3628065	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:3628064_3628065insTG	ENST00000325418.4	+	1	854_855	c.835_836insTG	c.(835-837)aatfs	p.N279fs	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	279					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGTGGTGGGAAATGGACCAGAG	0.545																																																0			17																																								3574814	SO:0001589	frameshift_variant	83903			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	Exception_encountered	17.37:g.3628064_3628065insTG	ENSP00000325290:p.Asn279fs		3574813	Q5U5K3|Q96MN1|Q9BXS7	Frame_Shift_Ins	INS	ENST00000325418.4	37	CCDS11036.1																																																																																				0.545	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		TG	3628065	-	TG	3628064	7	5	123	1	0	1	1	0	0	0	0	0	6822	14	1	0	837	0	GSG2	17	3628064	Frame_Shift_Ins	INS	-	TCGA-13-1408-01A-01W-0490-10		3628064	77567146	55	6744											
WSCD1	23302	hgsc.bcm.edu	37	17	5993765	5993767	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	GGG	GGG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:5993765_5993767delGGG	ENST00000574946.1	+	4	1057_1059	c.667_669delGGG	c.(667-669)gggdel	p.G223del	WSCD1_ENST00000573634.1_In_Frame_Del_p.G107del|WSCD1_ENST00000539421.1_In_Frame_Del_p.G223del|WSCD1_ENST00000317744.5_In_Frame_Del_p.G223del|WSCD1_ENST00000574232.1_In_Frame_Del_p.G223del			Q658N2	WSCD1_HUMAN	WSC domain containing 1	223	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.G223delG(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CTCTGTGTGCGGGGCTGTGGACC	0.655																																																1	Deletion - In frame(1)	ovary(1)	17																																								5934491	SO:0001651	inframe_deletion	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.667_669delGGG	17.37:g.5993765_5993767delGGG	ENSP00000460825:p.Gly223del		5934489	A8K0N8|D3DTM3|O60276|Q96G45	In_Frame_Del	DEL	ENST00000574946.1	37	CCDS32538.1																																																																																				0.655	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		-	5993767	GGG	-	5993765	7	5	123	1	0	1	0	1	0	0	0	0	17406	1116	39	0	677	0	WSCD1	17	5993765	In_Frame_Del	DEL	GGG	TCGA-13-1408-01A-01W-0490-10	2365701	5993765	75201445	56	6745											
PFAS	5198	hgsc.bcm.edu	37	17	8170363	8170365	+	In_Frame_Del	DEL	CGG	CGG	-	rs199963268		TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CGG	CGG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:8170363_8170365delCGG	ENST00000314666.6	+	24	3118_3120	c.2985_2987delCGG	c.(2983-2988)aacggg>aag	p.995_996NG>K	PFAS_ENST00000545834.1_In_Frame_Del_p.571_572NG>K	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	995					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.N995_G996>K(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TGTCAGTGAACGGGGCTGTGGTT	0.64																																																1	Complex - deletion inframe(1)	ovary(1)	17																																								8111090	SO:0001651	inframe_deletion	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2985_2987delCGG	17.37:g.8170363_8170365delCGG	ENSP00000313490:p.Asn995_Gly996delinsLys		8111088	A6H8V8	In_Frame_Del	DEL	ENST00000314666.6	37	CCDS11136.1																																																																																				0.64	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			-	8170365	CGG	-	8170363	7	5	123	1	0	1	0	1	0	0	0	0	11754	535	19	0	3075	0	PFAS	17	8170363	In_Frame_Del	DEL	CGG	TCGA-13-1408-01A-01W-0490-10	2176598	8170363	73024847	57	6746											
MMP28	79148	hgsc.bcm.edu	37	17	34095328	34095329	+	IGR	INS	-	-	GC			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:34095328_34095329insGC								C17orf50 (3230 upstream) : MMP28 (10179 downstream)														p.D306fs*28(1)									GGCTGTAGGAGTCCCAGGTCTC	0.559																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								31119442	SO:0001628	intergenic_variant	79148																															17.37:g.34095328_34095329insGC			31119441		Frame_Shift_Ins	INS		37																																																																																				0	0.559									GC	34095329	-	GC	34095328	6	5	123	0	1	1	1	0	0	0	0	0	9665	1020	36	0		0	MMP28	17	34095328	IGR	INS	-	TCGA-13-1408-01A-01W-0490-10	25924965	34095328	47099882	58	6747											
AOC2	314	hgsc.bcm.edu	37	17	40997343	40997345	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:40997343_40997345delCTT	ENST00000253799.3	+	1	727_729	c.700_702delCTT	c.(700-702)cttdel	p.L234del	AOC2_ENST00000452774.2_In_Frame_Del_p.L234del	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	234					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.L234delL(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGTCTTTTCCTTCACCCCGTGG	0.611																																																1	Deletion - In frame(1)	ovary(1)	17																																								38250871	SO:0001651	inframe_deletion	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.700_702delCTT	17.37:g.40997343_40997345delCTT	ENSP00000253799:p.Leu234del		38250869	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	In_Frame_Del	DEL	ENST00000253799.3	37	CCDS11443.1																																																																																				0.611	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		-	40997345	CTT	-	40997343	7	5	123	1	0	1	0	1	0	0	0	0	727	681	24	0	702	0	AOC2	17	40997343	In_Frame_Del	DEL	CTT	TCGA-13-1408-01A-01W-0490-10	6902015	40997343	40197867	59	6748											
GPATCH8	23131	hgsc.bcm.edu	37	17	42478484	42478484	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:42478484C>T	ENST00000591680.1	-	8	991	c.961G>A	c.(961-963)Gac>Aac	p.D321N	GPATCH8_ENST00000434000.1_Missense_Mutation_p.D243N	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	321							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D321N(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCCGCATGGTCCTTGAAAACT	0.453											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	17											157	170	165					17																	42478484		2203	4300	6503	39834010	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.961G>A	17.37:g.42478484C>T	ENSP00000467556:p.Asp321Asn	909	39834010	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339399	0.60963	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.16597	2.33	5.75	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.58101	1.795	0.53688	D	0.999978	D	0.89917	1.0	D	0.83275	0.996	T	0.09271	-1.0682	10	0.72032	D	0.01	-19.4029	15.579	0.76418	0.1384:0.8616:0.0:0.0	.	321	Q9UKJ3	GPTC8_HUMAN	N	321;243	ENSP00000395016:D243N	ENSP00000335486:D321N	D	-	1	0	GPATCH8	39834010	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.814000	0.69208	2.701000	0.92244	0.557000	0.71058	GAC		0.453	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		T	42478484	C	T	42478484	3	4	123	1	0	0	0	0	1	0	0	0	6594	855	30	2	3551	2	GPATCH8	17	42478484	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10	1481141	42478484	38716726	60	6749											
ACBD4	79777	hgsc.bcm.edu	37	17	43213896	43213897	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:43213896_43213897delCT	ENST00000376955.4	+	3	415_416	c.118_119delCT	c.(118-120)ctgfs	p.L40fs	ACBD4_ENST00000586346.1_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000321854.8_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000398322.3_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000591859.1_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000431281.1_Frame_Shift_Del_p.L40fs|ACBD4_ENST00000592162.1_Frame_Shift_Del_p.L40fs	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	40	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						TGAAGAGATGCTGCGATTCTAC	0.619																																																0			17																																								40569423	SO:0001589	frameshift_variant	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 4"				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.118_119delCT	17.37:g.43213896_43213897delCT	ENSP00000366154:p.Leu40fs		40569422	D3DX64|Q8IUT1|Q9H8Q4	Frame_Shift_Del	DEL	ENST00000376955.4	37	CCDS45711.1																																																																																				0.619	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		-	43213897	CT	-	43213896	7	5	123	1	0	1	0	1	0	0	0	0	124	796	28	0	124	0	ACBD4	17	43213896	Frame_Shift_Del	DEL	CT	TCGA-13-1408-01A-01W-0490-10	735412	43213896	37981314	61	6750											
SCN4A	6329	hgsc.bcm.edu	37	17	62022832	62022832	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:62022832A>T	ENST00000435607.1	-	19	3684	c.3608T>A	c.(3607-3609)gTc>gAc	p.V1203D	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1203D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1203					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1203D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTGTTGTTGACCTCGGAGAT	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											241	243	242					17																	62022832		2194	4299	6493	59376564	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3608T>A	17.37:g.62022832A>T	ENSP00000396320:p.Val1203Asp		59376564	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070476	0.76301	.	.	ENSG00000007314	ENST00000435607	D	0.97041	-4.22	3.76	2.63	0.31362	Ion transport (1);	0.000000	0.56097	D	0.000023	D	0.97895	0.9308	M	0.88310	2.945	0.80722	D	1	D	0.56287	0.975	P	0.58577	0.841	D	0.97427	1.0013	10	0.87932	D	0	.	9.5784	0.39472	0.823:0.177:0.0:0.0	.	1203	P35499	SCN4A_HUMAN	D	1203	ENSP00000396320:V1203D	ENSP00000396320:V1203D	V	-	2	0	SCN4A	59376564	1.000000	0.71417	0.984000	0.44739	0.969000	0.65631	9.013000	0.93629	0.594000	0.29761	0.459000	0.35465	GTC		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62022832	A	T	62022832	3	4	123	1	0	0	0	0	1	0	0	0	13923	275	10	5	1926	5	SCN4A	17	62022832	Missense_Mutation	SNP	A	TCGA-13-1408-01A-01W-0490-10	18808936	62022832	19172378	62	6751											
DNAI2	64446	hgsc.bcm.edu	37	17	72278098	72278098	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:72278098G>C	ENST00000311014.6	+	2	209	c.142G>C	c.(142-144)Gac>Cac	p.D48H	DNAI2_ENST00000582036.1_Missense_Mutation_p.D48H|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Missense_Mutation_p.D48H|DNAI2_ENST00000579490.1_Missense_Mutation_p.D105H			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	48					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.D48H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAACCCAGTGGACACGGGCAT	0.652									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	17											126	109	115					17																	72278098		2203	4300	6503	69789693	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.142G>C	17.37:g.72278098G>C	ENSP00000308312:p.Asp48His		69789693	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978769	0.34942	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.13657	2.57;2.57	5.22	5.22	0.72569	.	0.100357	0.64402	D	0.000003	T	0.15825	0.0381	L	0.42581	1.335	0.80722	D	1	B	0.22211	0.066	B	0.24155	0.051	T	0.04090	-1.0978	10	0.30854	T	0.27	-69.5797	19.0368	0.92982	0.0:0.0:1.0:0.0	.	48	Q9GZS0	DNAI2_HUMAN	H	48	ENSP00000308312:D48H;ENSP00000400252:D48H	ENSP00000308312:D48H	D	+	1	0	DNAI2	69789693	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.517000	0.67061	2.731000	0.93534	0.644000	0.83932	GAC		0.652	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		C	72278098	G	C	72278098	3	2	123	1	0	0	0	0	1	0	0	0	4610	1174	41	3	144	3	DNAI2	17	72278098	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	10255266	72278098	8917112	63	6752											
FBF1	85302	hgsc.bcm.edu	37	17	73922959	73922959	+	Splice_Site	SNP	C	C	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr17:73922959C>G	ENST00000586717.1	-	9	707		c.e9-1		FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1						apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.?(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCTTCCAAGTCTCACAGCAGA	0.522																																																1	Unknown(1)	ovary(1)	17											39	39	39					17																	73922959		1996	4159	6155	71434554	SO:0001630	splice_region_variant	85302			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.434-1G>C	17.37:g.73922959C>G			71434554	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	ENST00000586717.1	37		.	.	.	.	.	.	.	.	.	.	C	11.42	1.632327	0.29068	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5089	0.67772	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBF1	71434554	0.901000	0.30685	0.943000	0.38184	0.121000	0.20230	2.063000	0.41423	2.485000	0.83878	0.655000	0.94253	.		0.522	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	Intron	G	73922959	C	G	73922959	5	3	123	1	0	0	0	0	0	0	1	0	5695	927	32	3	3052	3	FBF1	17	73922959	Splice_Site	SNP	C	TCGA-13-1408-01A-01W-0490-10	1644861	73922959	7272251	64	6753											
MAST1	22983	hgsc.bcm.edu	37	19	12962779	12962779	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:12962779C>A	ENST00000251472.4	+	8	845	c.806C>A	c.(805-807)gCc>gAc	p.A269D	MAST1_ENST00000591495.1_Missense_Mutation_p.A265D	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.A269D(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TTGGAGGTGGCCTTCGTTACT	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											103	86	92					19																	12962779		2203	4300	6503	12823779	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.806C>A	19.37:g.12962779C>A	ENSP00000251472:p.Ala269Asp		12823779		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267344	0.80469	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.30714	1.52	5.06	5.06	0.68205	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.135532	0.49305	D	0.000156	T	0.42268	0.1195	M	0.71581	2.175	0.38673	D	0.952354	P;B	0.35575	0.51;0.061	B;B	0.41946	0.371;0.139	T	0.50013	-0.8877	10	0.62326	D	0.03	-14.404	16.2983	0.82786	0.0:1.0:0.0:0.0	.	269;269	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	D	269	ENSP00000251472:A269D	ENSP00000251472:A269D	A	+	2	0	MAST1	12823779	0.000000	0.05858	1.000000	0.80357	0.917000	0.54804	0.690000	0.25451	2.529000	0.85273	0.305000	0.20034	GCC		0.622	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		A	12962779	C	A	12962779	3	1	123	1	0	0	0	0	1	0	0	0	9324	739	26	3	836	3	MAST1	19	12962779	Missense_Mutation	SNP	C	TCGA-13-1408-01A-01W-0490-10		12962779	46166204	65	6754											
CEACAM6	4680	hgsc.bcm.edu	37	19	42260659	42260659	+	Silent	SNP	A	A	G			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:42260659A>G	ENST00000199764.6	+	2	434	c.216A>G	c.(214-216)agA>agG	p.R72R	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	72	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R72R(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AAGGCGAAAGAGTGGATGGCA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	19											205	187	193					19																	42260659		2203	4300	6503	46952499	SO:0001819	synonymous_variant	4680			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.216A>G	19.37:g.42260659A>G			46952499	Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	CCDS12585.1																																																																																				0.498	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			G	42260659	A	G	42260659	2	3	123	1	0	0	0	0	0	0	0	1	3196	301	11	4		4	CEACAM6	19	42260659	Silent	SNP	A	TCGA-13-1408-01A-01W-0490-10	29297880	42260659	16868324	66	6755											
ERCC2	2068	hgsc.bcm.edu	37	19	45858958	45858958	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:45858958G>C	ENST00000391945.4	-	16	1585	c.1508C>G	c.(1507-1509)gCc>gGc	p.A503G	ERCC2_ENST00000391944.3_Missense_Mutation_p.A425G	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	503	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.A503G(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGAGCTGATGGCCACCTGGTC	0.577			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"		E	1	Substitution - Missense(1)	ovary(1)	19											110	91	98					19																	45858958		2203	4300	6503	50550798	SO:0001583	missense	2068	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1508C>G	19.37:g.45858958G>C	ENSP00000375809:p.Ala503Gly		50550798	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141496	0.77775	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.82984	-1.44;-1.67	5.68	5.68	0.88126	.	0.108147	0.64402	D	0.000007	D	0.84101	0.5398	M	0.88906	2.99	0.80722	D	1	B;B;P	0.41313	0.389;0.016;0.745	B;B;B	0.33454	0.147;0.104;0.164	D	0.86693	0.1924	10	0.54805	T	0.06	-26.8678	15.2892	0.73854	0.0:0.0:1.0:0.0	.	425;503;196	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	G	453;479;503;425	ENSP00000375809:A503G;ENSP00000375808:A425G	ENSP00000375805:A453G	A	-	2	0	ERCC2	50550798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.446000	0.90329	2.692000	0.91855	0.561000	0.74099	GCC		0.577	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		C	45858958	G	C	45858958	3	2	123	1	0	0	0	0	1	0	0	0	5213	1203	42	3	806	3	ERCC2	19	45858958	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	3598299	45858958	13270025	67	6756											
SIGLEC9	27180	hgsc.bcm.edu	37	19	51631680	51631681	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:51631680_51631681insT	ENST00000250360.3	+	6	1183_1184	c.1116_1117insT	c.(1117-1119)tgcfs	p.C373fs	SIGLEC9_ENST00000440804.3_Frame_Shift_Ins_p.C373fs	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	373					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.C373fs*34(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAGTGAGGTCCTGCAGGAAGAA	0.569																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								56323493	SO:0001589	frameshift_variant	27180			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1117dupT	19.37:g.51631681_51631681dupT	ENSP00000250360:p.Cys373fs		56323492	Q6GTU4|Q9BYI9	Frame_Shift_Ins	INS	ENST00000250360.3	37	CCDS12825.1																																																																																				0.569	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		T	51631681	-	T	51631680	7	5	123	1	0	1	1	0	0	0	0	0	14318	668	24	0	1138	0	SIGLEC9	19	51631680	Frame_Shift_Ins	INS	-	TCGA-13-1408-01A-01W-0490-10	5772722	51631680	7497303	68	6757											
LILRB3	11025	hgsc.bcm.edu	37	19	54723012	54723015	+	Frame_Shift_Del	DEL	TTGC	TTGC	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	TTGC	TTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:54723012_54723015delTTGC	ENST00000391750.1	-	9	1545_1548	c.1409_1412delGCAA	c.(1408-1413)agcaaafs	p.SK470fs	LILRB3_ENST00000346401.6_Frame_Shift_Del_p.SK482fs|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Frame_Shift_Del_p.SK470fs|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000424807.1_Frame_Shift_Del_p.SK470fs|LILRA6_ENST00000419410.2_Frame_Shift_Del_p.SK470fs|LILRA6_ENST00000440558.2_Frame_Shift_Del_p.SK470fs|LILRA6_ENST00000270464.5_Frame_Shift_Del_p.SK470fs|LILRB3_ENST00000407860.2_Frame_Shift_Del_p.SK487fs			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	470					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S470fs*29(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTGTGTTTGCTGTGACGCTG	0.613																																																1	Deletion - Frameshift(1)	ovary(1)	19																																								59414827	SO:0001589	frameshift_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1409_1412delGCAA	19.37:g.54723012_54723015delTTGC	ENSP00000375630:p.Ser470fs		59414824	C9J1P3|C9JIP1|O15471|Q86U49	Frame_Shift_Del	DEL	ENST00000391750.1	37	CCDS33105.1																																																																																				0.613	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		-	54723015	TTGC	-	54723012	7	5	123	1	0	1	0	1	0	0	0	0	8792	1841	64	0	510	0	LILRB3	19	54723012	Frame_Shift_Del	DEL	TTGC	TCGA-13-1408-01A-01W-0490-10	3091332	54723012	4405971	69	6758											
SYT5	6861	hgsc.bcm.edu	37	19	55687457	55687458	+	Frame_Shift_Ins	INS	-	-	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr19:55687457_55687458insA	ENST00000354308.3	-	4	656_657	c.287_288insT	c.(286-288)ccafs	p.P96fs	SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000537500.1_Frame_Shift_Ins_p.P96fs|SYT5_ENST00000590851.1_Frame_Shift_Ins_p.P93fs|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	96					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.S97fs*12(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTGGCCCGGATGGTGCTGGCTC	0.579																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								60379270	SO:0001589	frameshift_variant	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.287_288insT	19.37:g.55687457_55687458insA	ENSP00000346265:p.Pro96fs		60379269	B3KWJ8|B7Z300|Q86X72	Frame_Shift_Ins	INS	ENST00000354308.3	37	CCDS12919.1																																																																																				0.579	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		A	55687458	-	A	55687457	7	5	123	1	0	1	1	0	0	0	0	0	15477	1451	51	0	896	0	SYT5	19	55687457	Frame_Shift_Ins	INS	-	TCGA-13-1408-01A-01W-0490-10	964445	55687457	3441526	70	6759											
SALL4	57167	hgsc.bcm.edu	37	20	50408303	50408303	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr20:50408303delT	ENST00000217086.4	-	2	830	c.719delA	c.(718-720)aacfs	p.N240fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.N240fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	240					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N240fs*18(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCCACATGTTCACCTGGAT	0.617																																																1	Deletion - Frameshift(1)	ovary(1)	20											36	37	36					20																	50408303		2203	4300	6503	49841710	SO:0001589	frameshift_variant	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.719delA	20.37:g.50408303delT	ENSP00000217086:p.Asn240fs		49841710	A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	37	CCDS13438.1																																																																																				0.617	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			-	50408303	T	-	50408303	7	5	123	1	0	1	0	1	0	0	0	0	13816	1725	60	0	2454	0	SALL4	20	50408303	Frame_Shift_Del	DEL	T	TCGA-13-1408-01A-01W-0490-10		50408303	12617217	71	6760											
TIAM1	7074	hgsc.bcm.edu	37	21	32617843	32617843	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr21:32617843G>C	ENST00000286827.3	-	7	2016	c.1545C>G	c.(1543-1545)ttC>ttG	p.F515L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.F515L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	515	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F515L(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGCTGAGGCAGAAGACAAAGT	0.527																																																1	Substitution - Missense(1)	ovary(1)	21											89	83	85					21																	32617843		2203	4300	6503	31539714	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1545C>G	21.37:g.32617843G>C	ENSP00000286827:p.Phe515Leu		31539714	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987661	0.93106	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	D;D	0.82081	-1.57;-1.57	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.988;0.997;0.993;0.997	D	0.90500	0.4473	10	0.87932	D	0	.	19.0006	0.92832	0.0:0.0:1.0:0.0	.	515;515;356;515	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	L	515;356;515	ENSP00000286827:F515L;ENSP00000441570:F515L	ENSP00000286827:F515L	F	-	3	2	TIAM1	31539714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.752000	0.85141	2.721000	0.93114	0.591000	0.81541	TTC		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		C	32617843	G	C	32617843	3	2	123	1	0	0	0	0	1	0	0	0	15890	933	33	3	3322	3	TIAM1	21	32617843	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10		32617843	15512052	72	6761											
C2CD2	25966	hgsc.bcm.edu	37	21	43327232	43327232	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr21:43327232delG	ENST00000380486.3	-	10	1428	c.1187delC	c.(1186-1188)cctfs	p.P398fs	C2CD2_ENST00000329623.7_Frame_Shift_Del_p.P243fs	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	398						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.P396fs*9(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AACAGGGGGAGGGATGGGCCA	0.522																																																1	Deletion - Frameshift(1)	ovary(1)	21											68	65	66					21																	43327232		2203	4300	6503	42200301	SO:0001589	frameshift_variant	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1187delC	21.37:g.43327232delG	ENSP00000369853:p.Pro398fs		42200301	Q5R2V7|Q6AHX8|Q9NSE6	Frame_Shift_Del	DEL	ENST00000380486.3	37	CCDS42933.1																																																																																				0.522	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		-	43327232	G	-	43327232	7	5	123	1	0	1	0	1	0	0	0	0	2152	1000	35	0	923	0	C2CD2	21	43327232	Frame_Shift_Del	DEL	G	TCGA-13-1408-01A-01W-0490-10	10709389	43327232	4802663	73	6762											
MYO18B	84700	hgsc.bcm.edu	37	22	26164303	26164303	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chr22:26164303G>C	ENST00000407587.2	+	4	589	c.420G>C	c.(418-420)aaG>aaC	p.K140N	MYO18B_ENST00000536101.1_Missense_Mutation_p.K140N|MYO18B_ENST00000335473.7_Missense_Mutation_p.K140N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	140						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K140N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAACCAAAAAGACTGTCCCCT	0.602																																																1	Substitution - Missense(1)	ovary(1)	22											35	41	39					22																	26164303		2033	4173	6206	24494303	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.420G>C	22.37:g.26164303G>C	ENSP00000386096:p.Lys140Asn		24494303	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	11.84	1.757458	0.31137	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89415	-2.49;-2.49;-2.51	4.49	-0.0952	0.13642	.	0.000000	0.36893	N	0.002348	D	0.87245	0.6129	L	0.60455	1.87	0.09310	N	1	P;P;P	0.51351	0.906;0.944;0.944	B;P;P	0.49999	0.425;0.628;0.628	T	0.80082	-0.1531	10	0.87932	D	0	.	7.2095	0.25925	0.3636:0.0:0.6364:0.0	.	140;140;140	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	140	ENSP00000441229:K140N;ENSP00000334563:K140N;ENSP00000386096:K140N	ENSP00000334563:K140N	K	+	3	2	MYO18B	24494303	0.003000	0.15002	0.000000	0.03702	0.225000	0.24961	0.681000	0.25320	0.086000	0.17137	0.484000	0.47621	AAG		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		C	26164303	G	C	26164303	3	2	123	1	0	0	0	0	1	0	0	0	10066	933	33	3	430	3	MYO18B	22	26164303	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10		26164303	25140263	74	6763											
CLCN4	1183	hgsc.bcm.edu	37	X	10153170	10153170	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:10153170T>A	ENST00000380833.4	+	3	489	c.98T>A	c.(97-99)aTc>aAc	p.I33N	CLCN4_ENST00000380829.1_Missense_Mutation_p.I33N|CLCN4_ENST00000421085.2_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	33					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.I33N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCACACCATCGACTGGCTA	0.527																																					Melanoma(74;1050 1296 1576 30544 38374)											1	Substitution - Missense(1)	ovary(1)	X											154	109	124					X																	10153170		2203	4300	6503	10113170	SO:0001583	missense	1183			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.98T>A	X.37:g.10153170T>A	ENSP00000370213:p.Ile33Asn		10113170	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752710	0.89753	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000454850	D;D;T	0.92545	-3.06;-3.06;0.85	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97637	1.0146	10	0.87932	D	0	-33.4038	13.7972	0.63177	0.0:0.0:0.0:1.0	.	33	P51793	CLCN4_HUMAN	N	33	ENSP00000370213:I33N;ENSP00000370209:I33N;ENSP00000403064:I33N	ENSP00000370209:I33N	I	+	2	0	CLCN4	10113170	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.837000	0.86796	1.788000	0.52465	0.481000	0.45027	ATC		0.527	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			A	10153170	T	A	10153170	3	1	123	1	0	0	0	0	1	0	0	0	3465	1435	50	5	100	5	CLCN4	23	10153170	Missense_Mutation	SNP	T	TCGA-13-1408-01A-01W-0490-10		10153170	145117390	75	6764											
ARHGAP6	395	hgsc.bcm.edu	37	X	11187696	11187696	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:11187696G>A	ENST00000337414.4	-	9	2610	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R377W|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R612W|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R405W|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R580W|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R389W|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R377W	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	580	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.R580R(1)|p.R580W(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCTCAGCCCGGGCTGAACTC	0.468																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	X											158	126	136					X																	11187696		2203	4300	6503	11097617	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1738C>T	X.37:g.11187696G>A	ENSP00000338967:p.Arg580Trp		11097617	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582707	0.65992	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.57	0.163	0.14986	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.47093	D	0.000251	T	0.62171	0.2406	M	0.74467	2.265	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.928;0.977;0.976;0.984;0.999	T	0.66143	-0.5997	10	0.62326	D	0.03	.	15.5015	0.75703	0.0:0.0:0.4095:0.5905	.	389;377;580;580;580	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	W	405;377;377;580;416;580;389;612	ENSP00000438135:R405W;ENSP00000370112:R377W;ENSP00000302312:R377W;ENSP00000338967:R580W;ENSP00000370093:R416W;ENSP00000370094:R580W;ENSP00000389394:R389W;ENSP00000370108:R612W	ENSP00000302312:R377W	R	-	1	2	ARHGAP6	11097617	1.000000	0.71417	0.449000	0.26957	0.927000	0.56198	1.369000	0.34227	-0.098000	0.12285	-1.469000	0.01011	CGG		0.468	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		A	11187696	G	A	11187696	3	1	123	1	0	0	0	0	1	0	0	0	887	1115	39	1	1328	1	ARHGAP6	23	11187696	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	1034526	11187696	144082864	76	6765											
ASB11	140456	hgsc.bcm.edu	37	X	15306059	15306059	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:15306059G>T	ENST00000480796.1	-	6	841	c.791C>A	c.(790-792)gCg>gAg	p.A264E	ASB11_ENST00000344384.4_Missense_Mutation_p.A243E|ASB11_ENST00000537676.1_Missense_Mutation_p.A243E|ASB11_ENST00000380470.3_Missense_Mutation_p.A247E			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	264					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A264E(2)|p.A243E(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CAGATCAAGCGCACTTTTGCC	0.542																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	X											124	97	106					X																	15306059		2203	4300	6503	15215980	SO:0001583	missense	140456			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.791C>A	X.37:g.15306059G>T	ENSP00000417914:p.Ala264Glu		15215980	E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179073	0.78564	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.44	5.44	0.79542	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000003	D	0.82683	0.5090	H	0.94503	3.545	0.23620	N	0.997276	D;D;D	0.89917	0.981;0.999;1.0	P;D;D	0.72982	0.9;0.966;0.979	T	0.79325	-0.1850	10	0.87932	D	0	-4.8556	17.2286	0.86978	0.0:0.0:1.0:0.0	.	247;264;243	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	E	243;247;243;264	ENSP00000445465:A243E;ENSP00000369837:A247E;ENSP00000343408:A243E;ENSP00000417914:A264E	ENSP00000343408:A243E	A	-	2	0	ASB11	15215980	1.000000	0.71417	0.020000	0.16555	0.980000	0.70556	8.393000	0.90182	2.279000	0.76181	0.523000	0.50628	GCG		0.542	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			T	15306059	G	T	15306059	3	4	123	1	0	0	0	0	1	0	0	0	1015	1087	38	3	188	3	ASB11	23	15306059	Missense_Mutation	SNP	G	TCGA-13-1408-01A-01W-0490-10	4118363	15306059	139964501	77	6766											
PHKA2	5256	hgsc.bcm.edu	37	X	18915374	18915375	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:18915374_18915375delCC	ENST00000379942.4	-	30	3853_3854	c.3188_3189delGG	c.(3187-3189)cggfs	p.R1063fs	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'Flank|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1063	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R1063fs*54(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTGGCCCTGCCGCTCACCCCA	0.634																																																1	Deletion - Frameshift(1)	ovary(1)	X																																								18825296	SO:0001589	frameshift_variant	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3188_3189delGG	X.37:g.18915374_18915375delCC	ENSP00000369274:p.Arg1063fs		18825295	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Frame_Shift_Del	DEL	ENST00000379942.4	37	CCDS14190.1																																																																																				0.634	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		-	18915375	CC	-	18915374	7	5	123	1	0	1	0	1	0	0	0	0	11844	726	26	0	534	0	PHKA2	23	18915374	Frame_Shift_Del	DEL	CC	TCGA-13-1408-01A-01W-0490-10	3609315	18915374	136355186	78	6767											
UBA1	7317	hgsc.bcm.edu	37	X	47060332	47060332	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1408-01A-01W-0490-10	TCGA-13-1408-10A-01W-0491-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	61aa0295-5d02-4f73-a1d7-5389a72d2b67	5bbf6f9c-09a6-4b0a-8c51-4ff24e857dab	g.chrX:47060332delC	ENST00000335972.6	+	6	703	c.520delC	c.(520-522)cgafs	p.R174fs	UBA1_ENST00000377351.4_Frame_Shift_Del_p.R174fs	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	174	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.R174fs*33(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGACCAGCTGCGAGTGGGTGA	0.632																																																1	Deletion - Frameshift(1)	ovary(1)	X											69	51	57					X																	47060332		2202	4296	6498	46945276	SO:0001589	frameshift_variant	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.520delC	X.37:g.47060332delC	ENSP00000338413:p.Arg174fs		46945276	Q5JRR8|Q96E13	Frame_Shift_Del	DEL	ENST00000335972.6	37	CCDS14275.1																																																																																				0.632	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		-	47060332	C	-	47060332	7	5	123	1	0	1	0	1	0	0	0	0	16827	760	27	0	538	0	UBA1	23	47060332	Frame_Shift_Del	DEL	C	TCGA-13-1408-01A-01W-0490-10	28144958	47060332	108210228	79	6768											
DNAJC11	55735	broad.mit.edu	37	1	6697389	6697389	+	Missense_Mutation	SNP	C	C	T	rs573944451		TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr1:6697389C>T	ENST00000377577.5	-	14	1516	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000294401.7_Missense_Mutation_p.V413I|DNAJC11_ENST00000377573.5_Missense_Mutation_p.V375I|DNAJC11_ENST00000542246.1_Missense_Mutation_p.V427I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	465						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.V465I(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCATTGACGATGATGAGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											244	200	215					1																	6697389		2203	4300	6503	6619976	SO:0001583	missense	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1393G>A	1.37:g.6697389C>T	ENSP00000366800:p.Val465Ile		6619976	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	C	5.945	0.358418	0.11239	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.23348	2.48;2.47;2.22;1.91	5.71	-0.88	0.10610	DnaJ-like protein C11, C-terminal (1);	0.434279	0.23148	N	0.051381	T	0.09949	0.0244	N	0.14661	0.345	0.35427	D	0.79372	P;B;B	0.36199	0.543;0.125;0.126	B;B;B	0.30401	0.115;0.024;0.051	T	0.31392	-0.9945	10	0.25106	T	0.35	-19.2151	5.9532	0.19259	0.1769:0.4176:0.3355:0.07	.	375;413;465	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	I	465;413;427;375	ENSP00000366800:V465I;ENSP00000294401:V413I;ENSP00000444020:V427I;ENSP00000366796:V375I	ENSP00000294401:V413I	V	-	1	0	DNAJC11	6619976	0.819000	0.29175	0.065000	0.19835	0.023000	0.10783	1.236000	0.32683	-0.130000	0.11599	-1.713000	0.00713	GTC		0.572	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		T	6697389	C	T	6697389	3	4	124	1	0	0	0	0	1	0	0	0	4630	536	19	1	298	1	DNAJC11	1	6697389	Missense_Mutation	SNP	C	TCGA-13-1409-01A-01W-0492-08		6697389	242553232	1	6769											
ALPL	249	broad.mit.edu	37	1	21889702	21889702	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr1:21889702G>A	ENST00000374840.3	+	5	647	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Missense_Mutation_p.A133T|ALPL_ENST00000539907.1_Missense_Mutation_p.A56T|ALPL_ENST00000540617.1_Missense_Mutation_p.A78T|ALPL_ENST00000425315.2_Missense_Mutation_p.A133T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	133					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.A133T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGTAAGCGCAGCCACTGAGCG	0.667																																																1	Substitution - Missense(1)	ovary(1)	1											80	72	75					1																	21889702		2203	4300	6503	21762289	SO:0001583	missense	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.397G>A	1.37:g.21889702G>A	ENSP00000363973:p.Ala133Thr		21762289	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705233	0.48412	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.160868	0.53938	D	0.000044	D	0.96241	0.8774	L	0.58669	1.825	0.54753	D	0.999985	B;P;D	0.63046	0.292;0.758;0.992	B;P;P	0.60949	0.248;0.511;0.881	D	0.95060	0.8195	10	0.29301	T	0.29	-8.3841	15.8954	0.79329	0.0:0.0:1.0:0.0	.	56;81;133	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	T	56;78;133;133;133	ENSP00000437674:A56T;ENSP00000442672:A78T;ENSP00000363973:A133T;ENSP00000363965:A133T;ENSP00000394765:A133T	ENSP00000363965:A133T	A	+	1	0	ALPL	21762289	1.000000	0.71417	0.142000	0.22268	0.691000	0.40173	6.321000	0.72881	2.320000	0.78422	0.655000	0.94253	GCC		0.667	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		A	21889702	G	A	21889702	3	1	124	1	0	0	0	0	1	0	0	0	547	971	34	2	411	2	ALPL	1	21889702	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	15192313	21889702	227360919	2	6770											
FAM183A	440585	broad.mit.edu	37	1	43621954	43621954	+	Silent	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr1:43621954G>A	ENST00000335282.4	+	4	375	c.375G>A	c.(373-375)acG>acA	p.T125T	FAM183A_ENST00000410048.1_Silent_p.T97T|FAM183A_ENST00000409337.1_3'UTR	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	125								p.T125T(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						AGGCTAAAACGTGGGGCTTAG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	1											142	141	142					1																	43621954		2018	4184	6202	43394541	SO:0001819	synonymous_variant	440585			AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.375G>A	1.37:g.43621954G>A			43394541	B7ZBL8	Silent	SNP	ENST00000335282.4	37	CCDS44126.1																																																																																				0.488	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3	NM_001101376		A	43621954	G	A	43621954	2	1	124	1	0	0	0	0	0	0	0	1	5510	1132	40	1		1	FAM183A	1	43621954	Silent	SNP	G	TCGA-13-1409-01A-01W-0492-08	21732252	43621954	205628667	3	6771											
RCOR3	55758	broad.mit.edu	37	1	211486113	211486113	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr1:211486113A>G	ENST00000367005.4	+	10	1094	c.953A>G	c.(952-954)aAc>aGc	p.N318S	RCOR3_ENST00000452621.2_Missense_Mutation_p.N376S|RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000419091.2_Missense_Mutation_p.N376S|RCOR3_ENST00000367006.4_Intron	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	318	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N318S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GTAATTGGCAACAAGACTGTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											116	116	116					1																	211486113		2203	4300	6503	209552736	SO:0001583	missense	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.953A>G	1.37:g.211486113A>G	ENSP00000355972:p.Asn318Ser		209552736	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718337	0.30503	.	.	ENSG00000117625	ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.22	4.07	0.47477	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.080945	0.85682	D	0.000000	T	0.44726	0.1307	N	0.20986	0.625	0.40443	D	0.980068	P;D;P	0.57571	0.882;0.98;0.931	B;P;P	0.59948	0.414;0.866;0.55	T	0.38067	-0.9678	10	0.41790	T	0.15	-9.4574	12.4824	0.55852	0.8599:0.1401:0.0:0.0	.	376;318;376	Q9P2K3-3;Q9P2K3;Q9P2K3-4	.;RCOR3_HUMAN;.	S	376;376;318;136	ENSP00000398558:N376S;ENSP00000413929:N376S;ENSP00000355972:N318S;ENSP00000437048:N136S	ENSP00000355972:N318S	N	+	2	0	RCOR3	209552736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.141000	0.77330	0.908000	0.36671	0.528000	0.53228	AAC		0.428	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		G	211486113	A	G	211486113	3	3	124	1	0	0	0	0	1	0	0	0	13187	43	2	4	1169	4	RCOR3	1	211486113	Missense_Mutation	SNP	A	TCGA-13-1409-01A-01W-0492-08	167864159	211486113	37764508	4	6772											
USH2A	7399	broad.mit.edu	37	1	215807954	215807954	+	Silent	SNP	C	C	T	rs397517998		TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr1:215807954C>T	ENST00000307340.3	-	70	15530	c.15144G>A	c.(15142-15144)gcG>gcA	p.A5048A	USH2A_ENST00000366943.2_Silent_p.A5048A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5048					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A5048A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCCCAGCATCGCCATTAACA	0.463										HNSCC(13;0.011)																																						1	Substitution - coding silent(1)	ovary(1)	1											137	129	131					1																	215807954		2203	4300	6503	213874577	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15144G>A	1.37:g.215807954C>T			213874577	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215807954	C	T	215807954	2	4	124	1	0	0	0	0	0	0	0	1	17036	871	31	1		1	USH2A	1	215807954	Silent	SNP	C	TCGA-13-1409-01A-01W-0492-08	4321841	215807954	33442667	5	6773											
ZSWIM2	151112	broad.mit.edu	37	2	187713716	187713716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr2:187713716C>A	ENST00000295131.2	-	1	181	c.142G>T	c.(142-144)Gag>Tag	p.E48*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	48					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E48*(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TATTCCGGCTCCTCCTCCCTC	0.617																																																1	Substitution - Nonsense(1)	ovary(1)	2											63	60	61					2																	187713716		2203	4300	6503	187421961	SO:0001587	stop_gained	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.142G>T	2.37:g.187713716C>A	ENSP00000295131:p.Glu48*		187421961	B3KXV6|Q53SI3|Q57ZY3	Nonsense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	36	5.665457	0.96745	.	.	ENSG00000163012	ENST00000295131	.	.	.	4.91	4.02	0.46733	.	1.011280	0.07946	N	0.980121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-0.027	10.8978	0.47034	0.1867:0.8133:0.0:0.0	.	.	.	.	X	48	.	ENSP00000295131:E48X	E	-	1	0	ZSWIM2	187421961	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	3.811000	0.55620	1.395000	0.46643	0.650000	0.86243	GAG		0.617	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		A	187713716	C	A	187713716	4	1	124	1	0	0	0	0	0	1	0	0	18241	864	30	3	1795	3	ZSWIM2	2	187713716	Nonsense_Mutation	SNP	C	TCGA-13-1409-01A-01W-0492-08		187713716	55485657	6	6774											
COL4A3	1285	broad.mit.edu	37	2	228147165	228147165	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr2:228147165C>T	ENST00000396578.3	+	32	2735	c.2573C>T	c.(2572-2574)cCa>cTa	p.P858L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	858	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.P858L(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACTGGATCACCAGGAATTCCA	0.478																																																1	Substitution - Missense(1)	ovary(1)	2											121	120	120					2																	228147165		1834	4094	5928	227855409	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2573C>T	2.37:g.228147165C>T	ENSP00000379823:p.Pro858Leu		227855409	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290583	0.40494	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97731	-4.51	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000013	D	0.98833	0.9606	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.99271	1.0893	10	0.54805	T	0.06	.	17.2577	0.87062	0.0:1.0:0.0:0.0	.	858;858;858;858	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	858	ENSP00000379823:P858L	ENSP00000323334:P858L	P	+	2	0	COL4A3	227855409	1.000000	0.71417	0.994000	0.49952	0.041000	0.13682	5.625000	0.67770	2.814000	0.96858	0.655000	0.94253	CCA		0.478	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		T	228147165	C	T	228147165	3	4	124	1	0	0	0	0	1	0	0	0	3691	594	21	2	2699	2	COL4A3	2	228147165	Missense_Mutation	SNP	C	TCGA-13-1409-01A-01W-0492-08	40433449	228147165	15052208	7	6775											
SP100	6672	broad.mit.edu	37	2	231309028	231309028	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr2:231309028G>A	ENST00000264052.5	+	4	761	c.406G>A	c.(406-408)Gat>Aat	p.D136N	SP100_ENST00000409112.1_Missense_Mutation_p.D136N|SP100_ENST00000409341.1_Missense_Mutation_p.D136N|SP100_ENST00000340126.4_Missense_Mutation_p.D136N|SP100_ENST00000427101.2_Missense_Mutation_p.D111N|SP100_ENST00000409897.1_Missense_Mutation_p.D101N|SP100_ENST00000409824.1_Missense_Mutation_p.D111N|SP100_ENST00000341950.4_Missense_Mutation_p.D136N	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	136	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D136N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAATACCCCGATTTAATTCA	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											119	122	121					2																	231309028		2203	4300	6503	231017272	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.406G>A	2.37:g.231309028G>A	ENSP00000264052:p.Asp136Asn		231017272	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124922	0.56613	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	3.89	3.01	0.34805	Sp100 (2);	.	.	.	.	D	0.95300	0.8475	L	0.56124	1.755	0.09310	N	1	D;D;D;D;D;D;P;D	0.89917	0.992;1.0;0.997;0.999;0.996;1.0;0.897;0.996	P;D;P;P;P;D;P;P	0.72982	0.803;0.979;0.876;0.905;0.885;0.932;0.447;0.803	D	0.87584	0.2486	9	0.48119	T	0.1	.	7.4744	0.27368	0.1177:0.0:0.8823:0.0	.	111;136;101;136;136;136;111;136	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	N	136;111;111;111;136;136;136;136;101	ENSP00000264052:D136N;ENSP00000399389:D111N;ENSP00000391616:D111N;ENSP00000387311:D111N;ENSP00000386404:D136N;ENSP00000386427:D136N;ENSP00000343023:D136N;ENSP00000342729:D136N;ENSP00000386998:D101N	ENSP00000264052:D136N	D	+	1	0	SP100	231017272	0.001000	0.12720	0.002000	0.10522	0.060000	0.15804	0.865000	0.27940	1.218000	0.43458	0.557000	0.71058	GAT		0.358	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		A	231309028	G	A	231309028	3	1	124	1	0	0	0	0	1	0	0	0	14963	1058	37	1	420	1	SP100	2	231309028	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	3161863	231309028	11890345	8	6776											
BSN	8927	broad.mit.edu	37	3	49680334	49680334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr3:49680334G>T	ENST00000296452.4	+	3	1381	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	423					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.G423*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AATGGGTCCTGGATCTGGACC	0.612																																																1	Substitution - Nonsense(1)	ovary(1)	3											35	41	39					3																	49680334		2203	4300	6503	49655338	SO:0001587	stop_gained	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1267G>T	3.37:g.49680334G>T	ENSP00000296452:p.Gly423*		49655338	O43161|Q7LGH3	Nonsense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	36	5.815152	0.96982	.	.	ENSG00000164061	ENST00000296452	.	.	.	4.79	3.89	0.44902	.	0.363325	0.19818	N	0.105395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	10.5282	0.44960	0.0:0.0:0.806:0.194	.	.	.	.	X	423	.	ENSP00000296452:G423X	G	+	1	0	BSN	49655338	0.089000	0.21612	0.434000	0.26772	0.752000	0.42762	0.735000	0.26115	1.090000	0.41315	0.557000	0.71058	GGA		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49680334	G	T	49680334	4	4	124	1	0	0	0	0	0	1	0	0	1530	1349	47	3	1277	3	BSN	3	49680334	Nonsense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08		49680334	148342096	9	6777											
MON1A	84315	broad.mit.edu	37	3	49947955	49947955	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr3:49947955G>A	ENST00000417270.1	-	5	1693	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Missense_Mutation_p.R261C|MON1A_ENST00000483022.1_5'Flank|MON1A_ENST00000296473.3_Missense_Mutation_p.R423C			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	326								p.R326C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCTGGTTGCGGGCCAGCAGG	0.662																																																1	Substitution - Missense(1)	ovary(1)	3											28	31	30					3																	49947955		2203	4299	6502	49922959	SO:0001583	missense	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1000C>T	3.37:g.49947955G>A	ENSP00000399613:p.Arg334Cys		49922959	B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37		.	.	.	.	.	.	.	.	.	.	G	19.43	3.826543	0.71143	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.72	4.8	0.61643	.	0.234649	0.51477	D	0.000100	T	0.57007	0.2024	L	0.46157	1.445	0.48236	D	0.999614	D;D;D	0.76494	0.999;0.987;0.958	P;P;P	0.59221	0.854;0.502;0.713	T	0.53823	-0.8384	8	.	.	.	-6.593	8.5674	0.33547	0.0:0.1386:0.5323:0.3291	.	164;261;326	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	C	423;334;261	.	.	R	-	1	0	MON1A	49922959	0.997000	0.39634	1.000000	0.80357	0.767000	0.43475	2.930000	0.48924	2.712000	0.92718	0.555000	0.69702	CGC		0.662	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		A	49947955	G	A	49947955	3	1	124	1	0	0	0	0	1	0	0	0	9698	1116	39	1	703	1	MON1A	3	49947955	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	267621	49947955	148074475	10	6778											
ROPN1	54763	broad.mit.edu	37	3	123695767	123695767	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr3:123695767C>A	ENST00000184183.4	-	4	518	c.178G>T	c.(178-180)Gct>Tct	p.A60S	ROPN1_ENST00000405845.3_Missense_Mutation_p.A60S	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	60						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A60S(1)		lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TTACACAAAGCGACTCGCTCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	3											104	96	99					3																	123695767		2203	4300	6503	125178457	SO:0001583	missense	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"cancer/testis antigen 91"	611757	"ropporin, rhophilin associated protein 1"			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.178G>T	3.37:g.123695767C>A	ENSP00000184183:p.Ala60Ser		125178457	D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	C	1.566	-0.535520	0.04082	.	.	ENSG00000065371	ENST00000184183;ENST00000405845;ENST00000467907;ENST00000460743;ENST00000495336;ENST00000496145	T;T;T;T	0.42131	0.98;0.98;0.98;1.56	4.37	-8.74	0.00838	.	1.370560	0.04501	N	0.381253	T	0.12902	0.0313	N	0.02539	-0.55	0.41976	D	0.990773	B	0.09022	0.002	B	0.09377	0.004	T	0.07654	-1.0761	10	0.10636	T	0.68	-24.3895	4.6542	0.12610	0.0904:0.1153:0.4148:0.3795	.	60	Q9HAT0	ROP1A_HUMAN	S	60	ENSP00000184183:A60S;ENSP00000385919:A60S;ENSP00000417067:A60S;ENSP00000420310:A60S	ENSP00000184183:A60S	A	-	1	0	ROPN1	125178457	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.694000	0.01915	-2.485000	0.00520	-1.172000	0.01736	GCT		0.517	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		A	123695767	C	A	123695767	3	1	124	1	0	0	0	0	1	0	0	0	13526	768	27	3	476	3	ROPN1	3	123695767	Missense_Mutation	SNP	C	TCGA-13-1409-01A-01W-0492-08	73747812	123695767	74326663	11	6779											
EIF2B5	8893	broad.mit.edu	37	3	183860606	183860606	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr3:183860606G>C	ENST00000273783.3	+	11	1708	c.1586G>C	c.(1585-1587)aGt>aCt	p.S529T	EIF2B5_ENST00000444495.1_Missense_Mutation_p.S529T	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	529					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.S529T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAAAGTGAAAGTGAGCAAAGT	0.483																																																1	Substitution - Missense(1)	ovary(1)	3											38	42	41					3																	183860606		2203	4300	6503	185343300	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1586G>C	3.37:g.183860606G>C	ENSP00000273783:p.Ser529Thr		185343300	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.931448	0.73442	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.98150	-4.75;-4.72	5.89	5.02	0.67125	.	0.080417	0.85682	D	0.000000	D	0.97648	0.9229	M	0.65498	2.005	0.80722	D	1	P;D	0.67145	0.75;0.996	B;P	0.54759	0.236;0.76	D	0.96947	0.9692	10	0.32370	T	0.25	.	15.2412	0.73471	0.0674:0.0:0.9326:0.0	.	529;529	E9PC74;Q13144	.;EI2BE_HUMAN	T	529;529;285	ENSP00000273783:S529T;ENSP00000409142:S529T	ENSP00000273783:S529T	S	+	2	0	EIF2B5	185343300	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	7.382000	0.79729	1.499000	0.48617	0.561000	0.74099	AGT		0.483	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			C	183860606	G	C	183860606	3	2	124	1	0	0	0	0	1	0	0	0	5004	1029	36	3	1628	3	EIF2B5	3	183860606	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	60164839	183860606	14161824	12	6780											
ADH5	128	broad.mit.edu	37	4	99993588	99993588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr4:99993588G>A	ENST00000296412.8	-	9	1155	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*		NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide									p.R369*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		ACAACAGTTCGAATGCTGTAA	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	4											70	65	66					4																	99993588		1855	4112	5967	100212611	SO:0001587	stop_gained	128			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"Alcohol dehydrogenases"	253	protein-coding gene	gene with protein product		103710	"formaldehyde dehydrogenase"	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.1105C>T	4.37:g.99993588G>A	ENSP00000296412:p.Arg369*		100212611		Nonsense_Mutation	SNP	ENST00000296412.8	37	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922551	0.92319	.	.	ENSG00000197894	ENST00000296412	.	.	.	3.97	3.08	0.35506	.	0.084250	0.46758	D	0.000263	.	.	.	.	.	.	0.53005	D	0.999967	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2671	10.423	0.44361	0.0:0.0:0.8038:0.1962	.	.	.	.	X	369	.	.	R	-	1	2	ADH5	100212611	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.128000	0.50492	1.178000	0.42870	0.650000	0.86243	CGA		0.378	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		A	99993588	G	A	99993588	4	1	124	1	0	0	0	0	0	1	0	0	311	1066	37	1	23	1	ADH5	4	99993588	Nonsense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08		99993588	91160688	13	6781											
CXXC4	80319	broad.mit.edu	37	4	105412305	105412305	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr4:105412305A>G	ENST00000426831.1	-	1	162	c.148T>C	c.(148-150)Tgc>Cgc	p.C50R	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.C219R|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	50					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.C50R(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCAGCGCCGCATTTGAGCTTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	4											125	135	132					4																	105412305		2203	4300	6503	105631754	SO:0001583	missense	80319				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.148T>C	4.37:g.105412305A>G	ENSP00000412267:p.Cys50Arg		105631754		Missense_Mutation	SNP	ENST00000426831.1	37		.	.	.	.	.	.	.	.	.	.	A	17.46	3.395466	0.62066	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	T	0.50871	0.1641	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	D	0.69142	0.962	T	0.58736	-0.7584	8	0.51188	T	0.08	-6.564	13.1379	0.59419	1.0:0.0:0.0:0.0	.	50	Q9H2H0	CXXC4_HUMAN	R	50	.	ENSP00000378248:C50R	C	-	1	0	CXXC4	105631754	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.936000	0.70153	1.655000	0.50712	0.248000	0.18094	TGC		0.537	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		G	105412305	A	G	105412305	3	3	124	1	0	0	0	0	1	0	0	0	4098	217	8	4	456	4	CXXC4	4	105412305	Missense_Mutation	SNP	A	TCGA-13-1409-01A-01W-0492-08	5418717	105412305	85741971	14	6782											
CDH6	1004	broad.mit.edu	37	5	31299654	31299654	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr5:31299654G>A	ENST00000265071.2	+	5	992	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	CDH6_ENST00000514738.1_Missense_Mutation_p.G188S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G243S(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGATATGGGCGGCCAGATGGG	0.483																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	5											140	130	134					5																	31299654		2203	4300	6503	31335411	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.727G>A	5.37:g.31299654G>A	ENSP00000265071:p.Gly243Ser		31335411	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	36	5.727699	0.96847	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.49720	0.77;0.77	6.07	6.07	0.98685	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.69142	0.893;0.962	T	0.61950	-0.6957	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	243;243	P55285;P55285-2	CADH6_HUMAN;.	S	188;243	ENSP00000424843:G188S;ENSP00000265071:G243S	ENSP00000265071:G243S	G	+	1	0	CDH6	31335411	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GGC		0.483	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		A	31299654	G	A	31299654	3	1	124	1	0	0	0	0	1	0	0	0	3114	1116	39	1	741	1	CDH6	5	31299654	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08		31299654	149615606	15	6783											
PRLR	5618	broad.mit.edu	37	5	35070322	35070322	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr5:35070322G>A	ENST00000382002.5	-	7	1015	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	PRLR_ENST00000231423.3_Missense_Mutation_p.H197Y|PRLR_ENST00000511486.1_Missense_Mutation_p.H96Y|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.H197Y|PRLR_ENST00000342362.5_Missense_Mutation_p.H96Y|PRLR_ENST00000348262.3_Missense_Mutation_p.H197Y|PRLR_ENST00000542609.1_Missense_Mutation_p.H197Y|PRLR_ENST00000397391.3_Missense_Mutation_p.H126Y|PRLR_ENST00000310101.5_Missense_Mutation_p.H197Y	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	197	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.H197Y(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TGTCCTGGATGTAGGCTGAGA	0.433																																																1	Substitution - Missense(1)	ovary(1)	5											111	95	100					5																	35070322		2203	4300	6503	35106079	SO:0001583	missense	5618				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.589C>T	5.37:g.35070322G>A	ENSP00000371432:p.His197Tyr		35106079	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	1.600	-0.526870	0.04141	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.13	-0.0505	0.13830	Fibronectin, type III (3);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.532219	0.20930	N	0.083102	T	0.10423	0.0255	N	0.03930	-0.32	0.25157	N	0.990385	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.002;0.0;0.0;0.001	T	0.30650	-0.9971	10	0.02654	T	1	-3.649	3.9764	0.09476	0.4004:0.0:0.2172:0.3825	.	197;197;96;126;197;197;197	P16471-3;P16471;P16471-2;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.;.	Y	197;197;197;126;197;96;197;96;197	ENSP00000231423:H197Y;ENSP00000424841:H197Y;ENSP00000311613:H197Y;ENSP00000380546:H126Y;ENSP00000441813:H197Y;ENSP00000339213:H96Y;ENSP00000371432:H197Y;ENSP00000422556:H96Y;ENSP00000309008:H197Y	ENSP00000231423:H197Y	H	-	1	0	PRLR	35106079	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	1.938000	0.40203	-0.144000	0.11314	-0.150000	0.13652	CAT		0.433	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			A	35070322	G	A	35070322	3	1	124	1	0	0	0	0	1	0	0	0	12534	1377	48	2	1295	2	PRLR	5	35070322	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	3770668	35070322	145844938	16	6784											
SPZ1	84654	broad.mit.edu	37	5	79617085	79617085	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr5:79617085G>C	ENST00000296739.4	+	1	1296	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	351					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E351Q(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AACTCTGCAAGAGAAGCCAAT	0.393																																																1	Substitution - Missense(1)	ovary(1)	5											85	80	81					5																	79617085		1841	4094	5935	79652841	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1051G>C	5.37:g.79617085G>C	ENSP00000369611:p.Glu351Gln		79652841	B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580815	0.46006	.	.	ENSG00000164299	ENST00000296739	T	0.32272	1.46	4.04	1.24	0.21308	.	1.013970	0.07924	N	0.976388	T	0.22322	0.0538	L	0.43923	1.385	0.09310	N	1	P	0.37955	0.612	B	0.33750	0.169	T	0.21280	-1.0250	10	0.48119	T	0.1	-13.0592	3.8553	0.08973	0.2998:0.1811:0.5191:0.0	.	351	Q9BXG8	SPZ1_HUMAN	Q	351	ENSP00000369611:E351Q	ENSP00000369611:E351Q	E	+	1	0	SPZ1	79652841	0.006000	0.16342	0.000000	0.03702	0.315000	0.28087	0.335000	0.19806	0.266000	0.21894	0.557000	0.71058	GAG		0.393	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		C	79617085	G	C	79617085	3	2	124	1	0	0	0	0	1	0	0	0	15129	943	33	3	1053	3	SPZ1	5	79617085	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	44546763	79617085	101298175	17	6785											
GEMIN5	25929	broad.mit.edu	37	5	154278854	154278854	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr5:154278854C>G	ENST00000285873.7	-	22	3106	c.3031G>C	c.(3031-3033)Gcc>Ccc	p.A1011P		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1011					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.A1011P(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGGGCCTTGGCAATCGCAATA	0.547																																																1	Substitution - Missense(1)	ovary(1)	5											87	92	90					5																	154278854		2203	4300	6503	154259047	SO:0001583	missense	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3031G>C	5.37:g.154278854C>G	ENSP00000285873:p.Ala1011Pro		154259047	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802447	0.90538	.	.	ENSG00000082516	ENST00000285873	T	0.78126	-1.15	5.62	5.62	0.85841	.	0.116168	0.64402	D	0.000018	D	0.87132	0.6101	M	0.74881	2.28	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61070	0.883;0.883	D	0.88156	0.2854	10	0.87932	D	0	-10.3986	19.263	0.93975	0.0:1.0:0.0:0.0	.	1010;1011	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	P	1011	ENSP00000285873:A1011P	ENSP00000285873:A1011P	A	-	1	0	GEMIN5	154259047	1.000000	0.71417	0.997000	0.53966	0.756000	0.42949	7.219000	0.78000	2.641000	0.89580	0.655000	0.94253	GCC		0.547	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			G	154278854	C	G	154278854	3	3	124	1	0	0	0	0	1	0	0	0	6331	710	25	3	1523	3	GEMIN5	5	154278854	Missense_Mutation	SNP	C	TCGA-13-1409-01A-01W-0492-08	74661769	154278854	26636406	18	6786											
RNF145	153830	broad.mit.edu	37	5	158588283	158588283	+	Silent	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr5:158588283G>A	ENST00000424310.2	-	10	1976	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000520638.1_Silent_p.I553I|RNF145_ENST00000519865.1_Silent_p.I539I|RNF145_ENST00000521606.2_Silent_p.I556I|RNF145_ENST00000518802.1_Silent_p.I569I|RNF145_ENST00000274542.2_Silent_p.I567I	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	539						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.I567I(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGATAACAGATGGCACAAA	0.383																																																1	Substitution - coding silent(1)	ovary(1)	5											53	54	54					5																	158588283		2190	4263	6453	158520861	SO:0001819	synonymous_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1617C>T	5.37:g.158588283G>A			158520861	B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	CCDS56390.1																																																																																				0.383	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		A	158588283	G	A	158588283	2	1	124	1	0	0	0	0	0	0	0	1	13450	932	33	2		2	RNF145	5	158588283	Silent	SNP	G	TCGA-13-1409-01A-01W-0492-08	4309429	158588283	22326977	19	6787											
PGBD1	84547	broad.mit.edu	37	6	28264666	28264666	+	Missense_Mutation	SNP	G	G	A	rs115946459		TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr6:28264666G>A	ENST00000405948.2	+	5	1136	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	PGBD1_ENST00000259883.3_Missense_Mutation_p.R239Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	239						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R239Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTCTGACTCGGAGGAACCTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											114	105	108					6																	28264666		2203	4300	6503	28372645	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.716G>A	6.37:g.28264666G>A	ENSP00000385213:p.Arg239Gln		28372645	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	9.005	0.981134	0.18812	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01133	5.29;5.29	4.01	-0.0146	0.13980	.	1.839010	0.03458	N	0.211816	T	0.00178	0.0005	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31613	-0.9937	10	0.02654	T	1	-20.8605	4.2593	0.10733	0.6877:0.2002:0.1121:0.0	.	239	Q96JS3	PGBD1_HUMAN	Q	239	ENSP00000385213:R239Q;ENSP00000259883:R239Q	ENSP00000259883:R239Q	R	+	2	0	PGBD1	28372645	0.000000	0.05858	0.068000	0.19968	0.833000	0.47200	-0.670000	0.05256	0.282000	0.22254	-0.436000	0.05848	CGG		0.507	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			A	28264666	G	A	28264666	3	1	124	1	0	0	0	0	1	0	0	0	11780	1116	39	1	730	1	PGBD1	6	28264666	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08		28264666	142850401	20	6788											
DDO	8528	broad.mit.edu	37	6	110729542	110729542	+	Silent	SNP	T	T	C			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr6:110729542T>C	ENST00000368924.3	-	3	375	c.360A>G	c.(358-360)gtA>gtG	p.V120V	DDO_ENST00000368923.3_Silent_p.V120V	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	92					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.V120V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CTTACCCTGATACCAAATGAA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	6											115	111	113					6																	110729542		2203	4300	6503	110836235	SO:0001819	synonymous_variant	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.360A>G	6.37:g.110729542T>C			110836235	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	37	CCDS5082.1																																																																																				0.393	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			C	110729542	T	C	110729542	2	2	124	1	0	0	0	0	0	0	0	1	4334	1393	49	4		4	DDO	6	110729542	Silent	SNP	T	TCGA-13-1409-01A-01W-0492-08	82464876	110729542	60385525	21	6789											
PPP1R3A	5506	broad.mit.edu	37	7	113518503	113518503	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr7:113518503G>T	ENST00000284601.3	-	4	2712	c.2644C>A	c.(2644-2646)Ctt>Att	p.L882I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	882			L -> H (in dbSNP:rs2974938). {ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7926294, ECO:0000269|PubMed:9726244}.		glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.H882N(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCTGCCTAAGATCTCTGTTT	0.378																																																1	Substitution - Missense(1)	ovary(1)	7											95	92	93					7																	113518503		2203	4299	6502	113305739	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2644C>A	7.37:g.113518503G>T	ENSP00000284601:p.Leu882Ile		113305739	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	0.283	-0.984940	0.02180	.	.	ENSG00000154415	ENST00000284601	T	0.17528	2.27	5.81	3.98	0.46160	.	0.941171	0.08924	N	0.874017	T	0.12008	0.0292	L	0.38175	1.15	0.09310	N	1	B	0.31153	0.31	B	0.24974	0.057	T	0.34675	-0.9819	10	0.27785	T	0.31	0.3983	3.8701	0.09033	0.1365:0.1188:0.5652:0.1794	.	882	Q16821	PPR3A_HUMAN	I	882	ENSP00000284601:L882I	ENSP00000284601:L882I	L	-	1	0	PPP1R3A	113305739	0.005000	0.15991	0.506000	0.27664	0.215000	0.24574	0.815000	0.27253	0.750000	0.32877	0.650000	0.86243	CTT		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113518503	G	T	113518503	3	4	124	1	0	0	0	0	1	0	0	0	12374	942	33	3	728	3	PPP1R3A	7	113518503	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08		113518503	45620160	22	6790											
ANK1	286	broad.mit.edu	37	8	41615650	41615650	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr8:41615650A>T	ENST00000347528.4	-	2	116	c.33T>A	c.(31-33)gaT>gaA	p.D11E	ANK1_ENST00000265709.8_Missense_Mutation_p.D44E|ANK1_ENST00000289734.7_Missense_Mutation_p.D11E|ANK1_ENST00000352337.4_Missense_Mutation_p.D11E|ANK1_ENST00000379758.2_Missense_Mutation_p.D11E|ANK1_ENST00000396942.1_Missense_Mutation_p.D11E|ANK1_ENST00000396945.1_Missense_Mutation_p.D11E	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	11	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D11E(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGTAGCAGCATCGGCCTGTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	8											203	195	198					8																	41615650		2203	4300	6503	41734807	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.33T>A	8.37:g.41615650A>T	ENSP00000339620:p.Asp11Glu		41734807	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863660	0.51482	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.67523	-0.26;-0.27;-0.23;-0.21;-0.23;-0.23;-0.27	5.54	1.88	0.25563	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	L	0.28192	0.835	0.52501	D	0.999958	D;D;P;D;D	0.89917	0.998;1.0;0.928;0.997;1.0	D;D;P;D;D	0.91635	0.995;0.998;0.823;0.919;0.999	T	0.63111	-0.6710	10	0.42905	T	0.14	.	9.2968	0.37819	0.7952:0.0:0.2048:0.0	.	44;11;11;11;11	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	E	11;11;11;11;11;11;44;11	ENSP00000339620:D11E;ENSP00000289734:D11E;ENSP00000369082:D11E;ENSP00000380149:D11E;ENSP00000380147:D11E;ENSP00000309131:D11E;ENSP00000265709:D44E	ENSP00000265709:D44E	D	-	3	2	ANK1	41734807	1.000000	0.71417	0.938000	0.37757	0.336000	0.28762	2.628000	0.46477	0.151000	0.19162	-0.376000	0.06991	GAT		0.527	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41615650	A	T	41615650	3	4	124	1	0	0	0	0	1	0	0	0	620	214	8	5	6130	5	ANK1	8	41615650	Missense_Mutation	SNP	A	TCGA-13-1409-01A-01W-0492-08		41615650	104748372	23	6791											
CSMD3	114788	broad.mit.edu	37	8	113392655	113392655	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr8:113392655G>T	ENST00000297405.5	-	38	6306	c.6062C>A	c.(6061-6063)aCg>aAg	p.T2021K	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1981K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1951K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1917K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2021	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2021K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTATTAGACGTACTATTCAA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											105	112	110					8																	113392655		2203	4292	6495	113461831	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6062C>A	8.37:g.113392655G>T	ENSP00000297405:p.Thr2021Lys		113461831	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557217	0.86231	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.64	5.64	0.86602	CUB (5);	0.000000	0.64402	D	0.000001	T	0.42698	0.1214	M	0.68317	2.08	0.53005	D	0.999967	D;D;D	0.89917	1.0;0.981;1.0	D;D;D	0.97110	0.999;0.969;1.0	T	0.05599	-1.0875	10	0.38643	T	0.18	.	19.2842	0.94065	0.0:0.0:1.0:0.0	.	1917;2021;1981	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1981;2021;1291;1917;1951	ENSP00000345799:T1981K;ENSP00000297405:T2021K;ENSP00000341558:T1291K;ENSP00000412263:T1917K;ENSP00000343124:T1951K	ENSP00000297405:T2021K	T	-	2	0	CSMD3	113461831	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.573000	0.82421	2.654000	0.90174	0.591000	0.81541	ACG		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113392655	G	T	113392655	3	4	124	1	0	0	0	0	1	0	0	0	3946	1145	40	3	5197	3	CSMD3	8	113392655	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	71777005	113392655	32971367	24	6792											
MYO3A	53904	broad.mit.edu	37	10	26315321	26315321	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr10:26315321T>G	ENST00000265944.5	+	10	979	c.813T>G	c.(811-813)gaT>gaG	p.D271E	MYO3A_ENST00000543632.1_Missense_Mutation_p.D271E	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D271E(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGACTAAAGATTATGAAAAGC	0.313																																																1	Substitution - Missense(1)	ovary(1)	10											76	74	75					10																	26315321		2203	4300	6503	26355327	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.813T>G	10.37:g.26315321T>G	ENSP00000265944:p.Asp271Glu		26355327	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846630	0.71603	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.16897	2.31;2.31	5.76	2.1	0.27182	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.154071	0.64402	D	0.000008	T	0.29458	0.0734	L	0.42487	1.325	0.53688	D	0.999974	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.97110	0.993;0.996;1.0	T	0.01484	-1.1343	10	0.87932	D	0	.	9.0669	0.36469	0.0:0.2815:0.0:0.7185	.	271;271;271	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	E	271	ENSP00000265944:D271E;ENSP00000445909:D271E	ENSP00000265944:D271E	D	+	3	2	MYO3A	26355327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.260000	0.32968	0.505000	0.28104	0.533000	0.62120	GAT		0.313	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		G	26315321	T	G	26315321	3	3	124	1	0	0	0	0	1	0	0	0	10076	1490	52	5	843	5	MYO3A	10	26315321	Missense_Mutation	SNP	T	TCGA-13-1409-01A-01W-0492-08		26315321	109219426	25	6793											
UNC5B	219699	broad.mit.edu	37	10	73046530	73046530	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr10:73046530C>T	ENST00000335350.6	+	5	1053	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R213C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	213	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.R213C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCTCATCATCCGCCAGGCCCG	0.597																																																1	Substitution - Missense(1)	ovary(1)	10											206	189	195					10																	73046530		2203	4300	6503	72716536	SO:0001583	missense	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.637C>T	10.37:g.73046530C>T	ENSP00000334329:p.Arg213Cys		72716536	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580660	0.86645	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.68479	-0.33;-0.33	5.43	5.43	0.79202	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097389	0.64402	D	0.000002	T	0.81059	0.4744	M	0.85197	2.74	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;D	0.63192	0.857;0.912	D	0.83760	0.0214	10	0.72032	D	0.01	-33.3646	12.397	0.55391	0.2835:0.7165:0.0:0.0	.	213;213	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	213	ENSP00000334329:R213C;ENSP00000362288:R213C	ENSP00000334329:R213C	R	+	1	0	UNC5B	72716536	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	6.782000	0.75073	2.561000	0.86390	0.561000	0.74099	CGC		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	73046530	C	T	73046530	3	4	124	1	0	0	0	0	1	0	0	0	16992	652	23	1	655	1	UNC5B	10	73046530	Missense_Mutation	SNP	C	TCGA-13-1409-01A-01W-0492-08	46731209	73046530	62488217	26	6794											
HABP2	3026	broad.mit.edu	37	10	115337862	115337862	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr10:115337862T>G	ENST00000351270.3	+	6	622	c.526T>G	c.(526-528)Tgt>Ggt	p.C176G	HABP2_ENST00000537906.1_Silent_p.P164P|HABP2_ENST00000542051.1_Missense_Mutation_p.C150G|HABP2_ENST00000541666.1_Missense_Mutation_p.C176G	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	176	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.C176G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CAAGTTCACCTGTGCCTGTCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	10											99	89	93					10																	115337862		2203	4300	6503	115327852	SO:0001583	missense	3026				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.526T>G	10.37:g.115337862T>G	ENSP00000277903:p.Cys176Gly		115327852	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801091	0.50315	.	.	ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666	D;D;D	0.99992	-12.4;-12.4;-12.4	5.54	5.54	0.83059	Kringle-like fold (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99988	1.3766	10	0.87932	D	0	.	14.2444	0.65978	0.0:0.0:0.0:1.0	.	176	Q14520	HABP2_HUMAN	G	150;176;176	ENSP00000443283:C150G;ENSP00000277903:C176G;ENSP00000438373:C176G	ENSP00000277903:C176G	C	+	1	0	HABP2	115327852	1.000000	0.71417	0.153000	0.22517	0.127000	0.20565	6.257000	0.72480	2.109000	0.64355	0.460000	0.39030	TGT		0.562	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		G	115337862	T	G	115337862	3	3	124	1	0	0	0	0	1	0	0	0	6938	1580	55	5	548	5	HABP2	10	115337862	Missense_Mutation	SNP	T	TCGA-13-1409-01A-01W-0492-08	42291332	115337862	20196885	27	6795											
OR51Q1	390061	broad.mit.edu	37	11	5443693	5443693	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr11:5443693G>T	ENST00000300778.4	+	1	353	c.263G>T	c.(262-264)tGg>tTg	p.W88L	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W88L(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTTCTCTGGTTCAACGTT	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											158	142	147					11																	5443693		2201	4297	6498	5400269	SO:0001583	missense	390061			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.263G>T	11.37:g.5443693G>T	ENSP00000300778:p.Trp88Leu		5400269	B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792893	0.50102	.	.	ENSG00000167360	ENST00000300778	T	0.00711	5.8	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.228798	0.31747	N	0.007133	T	0.02888	0.0086	L	0.45422	1.42	0.40632	D	0.981864	D	0.89917	1.0	D	0.85130	0.997	T	0.66480	-0.5913	10	0.42905	T	0.14	.	17.191	0.86879	0.0:0.0:1.0:0.0	.	88	Q8NH59	O51Q1_HUMAN	L	88	ENSP00000300778:W88L	ENSP00000300778:W88L	W	+	2	0	OR51Q1	5400269	0.905000	0.30787	1.000000	0.80357	0.698000	0.40448	0.501000	0.22578	2.641000	0.89580	0.380000	0.24917	TGG		0.522	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		T	5443693	G	T	5443693	3	4	124	1	0	0	0	0	1	0	0	0	11104	1357	47	3	265	3	OR51Q1	11	5443693	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08		5443693	129562823	28	6796											
FSHB	2488	broad.mit.edu	37	11	30253521	30253521	+	Silent	SNP	C	C	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr11:30253521C>A	ENST00000417547.1	+	2	111	c.72C>A	c.(70-72)acC>acA	p.T24T	FSHB_ENST00000254122.3_Silent_p.T24T|FSHB_ENST00000533718.1_Silent_p.T24T	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	24					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.T24T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						GTGAGCTGACCAACATCACCA	0.463																																																1	Substitution - coding silent(1)	ovary(1)	11											103	89	94					11																	30253521		2202	4299	6501	30210097	SO:0001819	synonymous_variant	2488				CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"Endogenous ligands"	3964	protein-coding gene	gene with protein product	"follitropin, beta chain", "follicle-stimulating hormone beta subunit"	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.72C>A	11.37:g.30253521C>A			30210097	A2TF08|A5JVV3|Q14D61	Silent	SNP	ENST00000417547.1	37	CCDS7868.1																																																																																				0.463	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		A	30253521	C	A	30253521	2	1	124	1	0	0	0	0	0	0	0	1	6072	581	21	3		3	FSHB	11	30253521	Silent	SNP	C	TCGA-13-1409-01A-01W-0492-08	24809828	30253521	104752995	29	6797											
QSER1	79832	broad.mit.edu	37	11	32955638	32955638	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr11:32955638G>A	ENST00000399302.2	+	4	2782	c.2447G>A	c.(2446-2448)aGt>aAt	p.S816N	QSER1_ENST00000527788.1_Missense_Mutation_p.S577N	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	816								p.S816N(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)					GGCCATTTTAGTGAAACAAAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											66	65	65					11																	32955638		1880	4101	5981	32912214	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.2447G>A	11.37:g.32955638G>A	ENSP00000382241:p.Ser816Asn		32912214	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	7.757	0.704605	0.15172	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.23348	2.24;1.91	5.47	0.981	0.19756	.	0.203904	0.42548	N	0.000693	T	0.15782	0.0380	L	0.38838	1.175	0.33918	D	0.64046	B;B;B	0.11235	0.004;0.003;0.0	B;B;B	0.13407	0.009;0.004;0.001	T	0.08310	-1.0728	10	0.36615	T	0.2	.	4.3727	0.11255	0.217:0.1202:0.5527:0.1102	.	577;577;816	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	N	816;577;577	ENSP00000382241:S816N;ENSP00000432766:S577N	ENSP00000078652:S577N	S	+	2	0	QSER1	32912214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.110000	0.41873	0.269000	0.21961	0.556000	0.70494	AGT		0.363	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		A	32955638	G	A	32955638	3	1	124	1	0	0	0	0	1	0	0	0	12885	1029	36	2	2453	2	QSER1	11	32955638	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	2702117	32955638	102050878	30	6798											
OR8K1	390157	broad.mit.edu	37	11	56113821	56113821	+	Missense_Mutation	SNP	T	T	C	rs139364859		TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr11:56113821T>C	ENST00000279783.2	+	1	401	c.307T>C	c.(307-309)Tat>Cat	p.Y103H		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y103H(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTACAATTGGTATGCCACTCA	0.393										HNSCC(65;0.19)																																						1	Substitution - Missense(1)	ovary(1)	11						T	HIS/TYR	1,4401	2.1+/-5.4	0,1,2200	177	175	176		307	5	0.9	11	dbSNP_134	176	0,8592		0,0,4296	no	missense	OR8K1	NM_001002907.1	83	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	benign	103/320	56113821	1,12993	2201	4296	6497	55870397	SO:0001583	missense	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.307T>C	11.37:g.56113821T>C	ENSP00000279783:p.Tyr103His		55870397	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.061626	0.55432	2.27E-4	0.0	ENSG00000150261	ENST00000279783	T	0.37411	1.2	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.27063	0.0663	N	0.19112	0.55	0.21105	N	0.999789	P	0.40476	0.718	B	0.38921	0.285	T	0.21586	-1.0241	10	0.87932	D	0	-5.7624	14.7062	0.69191	0.0:0.0:0.0:1.0	.	103	Q8NGG5	OR8K1_HUMAN	H	103	ENSP00000279783:Y103H	ENSP00000279783:Y103H	Y	+	1	0	OR8K1	55870397	1.000000	0.71417	0.889000	0.34880	0.952000	0.60782	6.387000	0.73191	1.862000	0.54008	0.448000	0.29417	TAT		0.393	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		C	56113821	T	C	56113821	3	2	124	1	0	0	0	0	1	0	0	0	11243	1638	57	4	309	4	OR8K1	11	56113821	Missense_Mutation	SNP	T	TCGA-13-1409-01A-01W-0492-08	23158183	56113821	78892695	31	6799											
DPF2	5977	broad.mit.edu	37	11	65108470	65108470	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr11:65108470C>A	ENST00000528416.1	+	3	360	c.227C>A	c.(226-228)gCc>gAc	p.A76D	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Missense_Mutation_p.A76D|DPF2_ENST00000252268.4_Missense_Mutation_p.A76D	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	76					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.A76D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TCCTACCCTGCCCGGCGCTGG	0.532																																																1	Substitution - Missense(1)	ovary(1)	11											60	55	57					11																	65108470		2201	4297	6498	64865046	SO:0001583	missense	5977			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.227C>A	11.37:g.65108470C>A	ENSP00000436901:p.Ala76Asp		64865046	A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	33	5.268071	0.95429	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.91521	-2.77;-2.86;-2.79	5.4	5.4	0.78164	.	0.000000	0.37483	N	0.002074	D	0.94703	0.8291	M	0.76328	2.33	0.58432	D	0.999996	D;D;P	0.59767	0.984;0.986;0.863	P;D;P	0.65874	0.883;0.939;0.478	D	0.95123	0.8248	10	0.87932	D	0	-18.4102	16.6638	0.85247	0.0:1.0:0.0:0.0	.	76;76;76	B4DT58;E9PN04;Q92785	.;.;REQU_HUMAN	D	76	ENSP00000436901:A76D;ENSP00000399714:A76D;ENSP00000252268:A76D	ENSP00000252268:A76D	A	+	2	0	DPF2	64865046	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.794000	0.85869	2.553000	0.86117	0.460000	0.39030	GCC		0.532	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		A	65108470	C	A	65108470	3	1	124	1	0	0	0	0	1	0	0	0	4717	739	26	3	237	3	DPF2	11	65108470	Missense_Mutation	SNP	C	TCGA-13-1409-01A-01W-0492-08	8994649	65108470	69898046	32	6800											
PUS3	83480	broad.mit.edu	37	11	125765156	125765156	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr11:125765156G>T	ENST00000530811.1	-	2	952	c.907C>A	c.(907-909)Ctg>Atg	p.L303M	HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.L303M|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	303					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.L303M(1)		NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TCTATATTCAGCAGCTCATCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	11											90	94	93					11																	125765156		2201	4299	6500	125270366	SO:0001583	missense	83480			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.907C>A	11.37:g.125765156G>T	ENSP00000432386:p.Leu303Met		125270366	B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297832	0.60086	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.69561	-0.41;-0.41	5.73	4.82	0.62117	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	D	0.82527	0.5056	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.84947	0.0869	10	0.66056	D	0.02	-8.4307	11.8037	0.52141	0.1412:0.0:0.8588:0.0	.	303	Q9BZE2	PUS3_HUMAN	M	303	ENSP00000227474:L303M;ENSP00000432386:L303M	ENSP00000227474:L303M	L	-	1	2	PUS3	125270366	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.072000	0.41510	1.420000	0.47138	0.591000	0.81541	CTG		0.428	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		T	125765156	G	T	125765156	3	4	124	1	0	0	0	0	1	0	0	0	12835	962	34	3	546	3	PUS3	11	125765156	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	60656686	125765156	9241360	33	6801											
CCNT1	904	broad.mit.edu	37	12	49087926	49087926	+	Silent	SNP	A	A	C			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr12:49087926A>C	ENST00000261900.3	-	9	1293	c.1071T>G	c.(1069-1071)ctT>ctG	p.L357L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	357					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.L357L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CAACTCCTGTAAGTGCTAAAT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	12											162	155	158					12																	49087926		2203	4300	6503	47374193	SO:0001819	synonymous_variant	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1071T>G	12.37:g.49087926A>C			47374193	A9XU13|E7EX76|O60581	Silent	SNP	ENST00000261900.3	37	CCDS8766.1																																																																																				0.458	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		C	49087926	A	C	49087926	2	2	124	1	0	0	0	0	0	0	0	1	2934	349	13	5		5	CCNT1	12	49087926	Silent	SNP	A	TCGA-13-1409-01A-01W-0492-08		49087926	84763969	34	6802											
DIP2B	57609	broad.mit.edu	37	12	51092138	51092138	+	Silent	SNP	A	A	G	rs541979685		TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr12:51092138A>G	ENST00000301180.5	+	18	2110	c.2076A>G	c.(2074-2076)ccA>ccG	p.P692P		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	692						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P692P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCCCTTTGCCAGGAAGAGCCA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	12											90	88	89					12																	51092138		2203	4300	6503	49378405	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2076A>G	12.37:g.51092138A>G			49378405	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.433	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		G	51092138	A	G	51092138	2	3	124	1	0	0	0	0	0	0	0	1	4528	175	7	4		4	DIP2B	12	51092138	Silent	SNP	A	TCGA-13-1409-01A-01W-0492-08	2004212	51092138	82759757	35	6803											
FRY	10129	broad.mit.edu	37	13	32652987	32652987	+	Silent	SNP	C	C	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr13:32652987C>T	ENST00000380250.3	+	2	583	c.87C>T	c.(85-87)aaC>aaT	p.N29N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	29						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.N29N(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCGTTGGCAACGGTTACATCA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	13											167	164	165					13																	32652987		1930	4148	6078	31550987	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.87C>T	13.37:g.32652987C>T			31550987	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																				0.473	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32652987	C	T	32652987	2	4	124	1	0	0	0	0	0	0	0	1	6063	535	19	1		1	FRY	13	32652987	Silent	SNP	C	TCGA-13-1409-01A-01W-0492-08		32652987	82516891	36	6804											
C14orf43	91748	broad.mit.edu	37	14	74206288	74206288	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr14:74206288A>C	ENST00000286523.5	-	2	1206	c.424T>G	c.(424-426)Tac>Gac	p.Y142D	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Missense_Mutation_p.Y142D	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y142D(1)									GTTGCACTGTAGAGGGACAGA	0.627																																																1	Substitution - Missense(1)	ovary(1)	14											89	94	92					14																	74206288		2203	4300	6503	73276041	SO:0001583	missense	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.424T>G	14.37:g.74206288A>C	ENSP00000286523:p.Tyr142Asp		73276041	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464012	0.43736	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.19532	2.15;2.15;2.15;2.14	5.19	5.19	0.71726	.	0.307526	0.23750	N	0.044928	T	0.14313	0.0346	N	0.24115	0.695	0.35003	D	0.756198	P;P	0.47409	0.895;0.895	B;B	0.43754	0.43;0.43	T	0.14117	-1.0484	10	0.12430	T	0.62	-13.5321	10.053	0.42228	0.7747:0.2253:0.0:0.0	.	142;142	A0PJD3;Q6PJG2	.;CN043_HUMAN	D	142	ENSP00000377634:Y142D;ENSP00000286523:Y142D;ENSP00000407767:Y142D;ENSP00000402380:Y142D	ENSP00000286523:Y142D	Y	-	1	0	C14orf43	73276041	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	2.646000	0.46630	1.954000	0.56735	0.379000	0.24179	TAC		0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		C	74206288	A	C	74206288	3	2	124	1	0	0	0	0	1	0	0	0	1774	420	15	5	2757	5	C14orf43	14	74206288	Missense_Mutation	SNP	A	TCGA-13-1409-01A-01W-0492-08		74206288	33143252	37	6805											
NTRK3	4916	broad.mit.edu	37	15	88483904	88483904	+	Nonsense_Mutation	SNP	C	C	A	rs371770675		TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr15:88483904C>A	ENST00000360948.2	-	14	1827	c.1666G>T	c.(1666-1668)Gag>Tag	p.E556*	NTRK3_ENST00000557856.1_Nonsense_Mutation_p.E548*|NTRK3_ENST00000542733.2_Nonsense_Mutation_p.E458*|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.E556*|NTRK3_ENST00000558676.1_Nonsense_Mutation_p.E548*|NTRK3_ENST00000394480.2_Nonsense_Mutation_p.E556*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.E548*	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	556	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E556*(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTAGCACTCGGCCAGGAAG	0.577			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	2	Substitution - Nonsense(2)	ovary(1)|lung(1)	15											152	123	133					15																	88483904		2201	4299	6500	86284908	SO:0001587	stop_gained	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1666G>T	15.37:g.88483904C>A	ENSP00000354207:p.Glu556*		86284908	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Nonsense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	43	9.910118	0.99293	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	17.9041	0.88913	0.0:1.0:0.0:0.0	.	.	.	.	X	556;556;548;556;458;52	.	ENSP00000342792:E52X	E	-	1	0	NTRK3	86284908	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.556000	0.82233	2.477000	0.83638	0.655000	0.94253	GAG		0.577	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88483904	C	A	88483904	4	1	124	1	0	0	0	0	0	1	0	0	10708	893	31	3	877	3	NTRK3	15	88483904	Nonsense_Mutation	SNP	C	TCGA-13-1409-01A-01W-0492-08		88483904	14047488	38	6806											
CDH8	1006	broad.mit.edu	37	16	61687975	61687975	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr16:61687975C>T	ENST00000577390.1	-	12	2891	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	CDH8_ENST00000299345.6_Missense_Mutation_p.R646Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R646Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	646					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTTTTATGCCGCCGTAGAGT	0.393																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	16											64	63	63					16																	61687975		2203	4300	6503	60245476	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1937G>A	16.37:g.61687975C>T	ENSP00000462701:p.Arg646Gln		60245476	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622957	0.96660	.	.	ENSG00000150394	ENST00000299345	T	0.78816	-1.21	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.88239	0.6383	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.87239	0.2265	10	0.42905	T	0.14	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	646	P55286	CADH8_HUMAN	Q	646	ENSP00000299345:R646Q	ENSP00000299345:R646Q	R	-	2	0	CDH8	60245476	1.000000	0.71417	0.963000	0.40424	0.943000	0.58893	6.046000	0.71029	2.679000	0.91253	0.655000	0.94253	CGG		0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		T	61687975	C	T	61687975	3	4	124	1	0	0	0	0	1	0	0	0	3116	652	23	1	466	1	CDH8	16	61687975	Missense_Mutation	SNP	C	TCGA-13-1409-01A-01W-0492-08		61687975	28666778	39	6807											
ZFHX3	463	broad.mit.edu	37	16	72822537	72822537	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr16:72822537G>T	ENST00000268489.5	-	10	10310	c.9638C>A	c.(9637-9639)cCg>cAg	p.P3213Q	RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2299Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3213	Poly-Pro.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P3213Q(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCTGCTGGCGGCGGGGGAGg	0.632																																																1	Substitution - Missense(1)	ovary(1)	16											93	104	100					16																	72822537		2198	4300	6498	71380038	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9638C>A	16.37:g.72822537G>T	ENSP00000268489:p.Pro3213Gln		71380038	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	8.762	0.923949	0.18056	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73575	-0.76;-0.75	5.44	0.886	0.19194	.	0.000000	0.42682	D	0.000663	T	0.53498	0.1800	L	0.34521	1.04	0.19300	N	0.999974	B	0.06786	0.001	B	0.04013	0.001	T	0.18178	-1.0345	10	0.13108	T	0.6	.	4.4217	0.11482	0.1814:0.0:0.5645:0.2541	.	3213	Q15911	ZFHX3_HUMAN	Q	3213;2299	ENSP00000268489:P3213Q;ENSP00000438926:P2299Q	ENSP00000268489:P3213Q	P	-	2	0	ZFHX3	71380038	0.024000	0.19004	0.786000	0.31890	0.977000	0.68977	1.089000	0.30890	0.672000	0.31204	0.557000	0.71058	CCG		0.632	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72822537	G	T	72822537	3	4	124	1	0	0	0	0	1	0	0	0	17634	1116	39	3	1477	3	ZFHX3	16	72822537	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	11134562	72822537	17532216	40	6808											
ANKRD11	29123	broad.mit.edu	37	16	89351543	89351543	+	Silent	SNP	G	G	A	rs201654291		TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr16:89351543G>A	ENST00000301030.4	-	9	1867	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	ANKRD11_ENST00000378330.2_Silent_p.F469F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	469					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F469F(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCGCTTTCCGAAGCGAACCT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	16											30	33	32					16																	89351543		2198	4300	6498	87879044	SO:0001819	synonymous_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1407C>T	16.37:g.89351543G>A			87879044	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																				0.512	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89351543	G	A	89351543	2	1	124	1	0	0	0	0	0	0	0	1	639	1049	37	1		1	ANKRD11	16	89351543	Silent	SNP	G	TCGA-13-1409-01A-01W-0492-08	16529006	89351543	1003210	41	6809											
TP53	7157	broad.mit.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr17:7577498C>A	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(29)|p.0?(8)|p.E258fs*71(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)	TGGCTCCTGACCTGGAGTCTT	0.572		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"	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)	17											121	85	97					17																	7577498		2203	4300	6503	7518223	SO:0001630	splice_region_variant	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.782+1G>T	17.37:g.7577498C>A			7518223	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928881	0.34002	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7577498	C	A	7577498	5	1	124	1	0	0	0	0	0	0	1	0	16381	521	18	3	507	3	TP53	17	7577498	Splice_Site	SNP	C	TCGA-13-1409-01A-01W-0492-08		7577498	73617712	42	6810											
ZNF257	113835	broad.mit.edu	37	19	22271096	22271096	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr19:22271096T>C	ENST00000594947.1	+	4	688	c.544T>C	c.(544-546)Ttt>Ctt	p.F182L	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F182L(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGGCAAATCATTTTGCATGCT	0.323																																																1	Substitution - Missense(1)	ovary(1)	19											43	45	45					19																	22271096		2201	4296	6497	22062936	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.544T>C	19.37:g.22271096T>C	ENSP00000470209:p.Phe182Leu		22062936	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	T	9.508	1.104929	0.20632	.	.	ENSG00000197134	ENST00000435820	.	.	.	0.51	0.51	0.16983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46946	0.1419	M	0.91196	3.185	0.09310	N	1	B	0.32409	0.37	B	0.21151	0.033	T	0.52793	-0.8528	8	0.72032	D	0.01	.	2.6589	0.05020	0.0:0.3754:0.0:0.6246	.	182	Q9Y2Q1	ZN257_HUMAN	L	182	.	ENSP00000406147:F182L	F	+	1	0	ZNF257	22062936	0.388000	0.25197	0.006000	0.13384	0.143000	0.21401	2.507000	0.45442	0.436000	0.26393	0.260000	0.18958	TTT		0.323	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			C	22271096	T	C	22271096	3	2	124	1	0	0	0	0	1	0	0	0	17800	1493	52	4	558	4	ZNF257	19	22271096	Missense_Mutation	SNP	T	TCGA-13-1409-01A-01W-0492-08		22271096	36857887	43	6811											
FAM83E	54854	broad.mit.edu	37	19	49116423	49116423	+	Silent	SNP	C	C	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr19:49116423C>T	ENST00000263266.3	-	1	396	c.207G>A	c.(205-207)gcG>gcA	p.A69A	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	69								p.A69A(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTTCAGCTGCCGCTGCCAAGC	0.667																																																1	Substitution - coding silent(1)	ovary(1)	19											22	28	26					19																	49116423		2127	4246	6373	53808235	SO:0001819	synonymous_variant	54854			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.207G>A	19.37:g.49116423C>T			53808235	Q9NXK1	Silent	SNP	ENST00000263266.3	37	CCDS42587.1																																																																																				0.667	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		T	49116423	C	T	49116423	2	4	124	1	0	0	0	0	0	0	0	1	5637	639	23	1		1	FAM83E	19	49116423	Silent	SNP	C	TCGA-13-1409-01A-01W-0492-08	26845327	49116423	10012560	44	6812											
KIF16B	55614	broad.mit.edu	37	20	16496271	16496271	+	Silent	SNP	T	T	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr20:16496271T>A	ENST00000354981.2	-	4	427	c.270A>T	c.(268-270)gcA>gcT	p.A90A	KIF16B_ENST00000408042.1_Silent_p.A90A|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.A90A	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	90	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.A90A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AACCTTCAAATGCAGACTTCA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	20											117	104	109					20																	16496271		2203	4300	6503	16444271	SO:0001819	synonymous_variant	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.270A>T	20.37:g.16496271T>A			16444271	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	CCDS13122.1																																																																																				0.378	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		A	16496271	T	A	16496271	2	1	124	1	0	0	0	0	0	0	0	1	8278	1451	51	5		5	KIF16B	20	16496271	Silent	SNP	T	TCGA-13-1409-01A-01W-0492-08		16496271	46529249	45	6813											
PLXNB2	23654	broad.mit.edu	37	22	50724253	50724253	+	Silent	SNP	C	C	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr22:50724253C>T	ENST00000449103.1	-	11	2204	c.2064G>A	c.(2062-2064)caG>caA	p.Q688Q	PLXNB2_ENST00000359337.4_Silent_p.Q688Q|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	688					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.Q731Q(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTTCTTGCCCTGGAAGTTCA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	22											78	81	80					22																	50724253		1974	4162	6136	49066380	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2064G>A	22.37:g.50724253C>T			49066380	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	9.798	1.179706	0.21787	.	.	ENSG00000196576	ENST00000434732	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	T	0.68769	0.3037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67707	-0.5601	4	.	.	.	.	13.5784	0.61888	0.0:1.0:0.0:0.0	.	.	.	.	K	7	.	.	R	-	2	0	PLXNB2	49066380	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.145000	0.50623	2.275000	0.75901	0.561000	0.74099	AGG		0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		T	50724253	C	T	50724253	2	4	124	1	0	0	0	0	0	0	0	1	12124	680	24	2		2	PLXNB2	22	50724253	Silent	SNP	C	TCGA-13-1409-01A-01W-0492-08		50724253	580313	46	6814											
PLXNB2	23654	broad.mit.edu	37	22	50724633	50724633	+	Missense_Mutation	SNP	G	G	T	rs371223423		TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chr22:50724633G>T	ENST00000449103.1	-	9	1986	c.1846C>A	c.(1846-1848)Cgc>Agc	p.R616S	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R616S|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	616					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.R659S(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGGCCTGGCGGCAGTCGTAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	22											93	112	105					22																	50724633		2108	4231	6339	49066760	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1846C>A	22.37:g.50724633G>T	ENSP00000409171:p.Arg616Ser		49066760	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	3.182	-0.167635	0.06461	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.02498	4.27;4.27	4.01	1.38	0.22167	.	0.638529	0.13239	N	0.403019	T	0.01489	0.0048	N	0.11313	0.125	0.30033	N	0.813311	B	0.09022	0.002	B	0.06405	0.002	T	0.42447	-0.9451	10	0.02654	T	1	.	9.1352	0.36870	0.0:0.0:0.4049:0.595	.	616	O15031	PLXB2_HUMAN	S	616	ENSP00000409171:R616S;ENSP00000352288:R616S	ENSP00000352288:R616S	R	-	1	0	PLXNB2	49066760	0.013000	0.17824	0.770000	0.31555	0.934000	0.57294	0.472000	0.22116	0.782000	0.33613	0.491000	0.48974	CGC		0.632	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		T	50724633	G	T	50724633	3	4	124	1	0	0	0	0	1	0	0	0	12124	1116	39	3	3786	3	PLXNB2	22	50724633	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	380	50724633	579933	47	6815											
GPKOW	27238	broad.mit.edu	37	X	48976067	48976067	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chrX:48976067G>T	ENST00000156109.5	-	4	635	c.557C>A	c.(556-558)aCc>aAc	p.T186N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	186	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.T186N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CTGATTGAAGGTGCGGCCGAT	0.607																																																1	Substitution - Missense(1)	ovary(1)	X											60	46	51					X																	48976067		2203	4300	6503	48863011	SO:0001583	missense	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.557C>A	X.37:g.48976067G>T	ENSP00000156109:p.Thr186Asn		48863011	Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670404	0.88348	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.79	4.79	0.61399	D111/G-patch (2);	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	N	0.12663	0.25	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.47302	-0.9128	9	0.12430	T	0.62	-3.5937	16.2578	0.82526	0.0:0.0:1.0:0.0	.	186	Q92917	GPKOW_HUMAN	N	186	.	ENSP00000156109:T186N	T	-	2	0	GPKOW	48863011	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.413000	0.80104	2.293000	0.77203	0.597000	0.82753	ACC		0.607	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		T	48976067	G	T	48976067	3	4	124	1	0	0	0	0	1	0	0	0	6613	1261	44	3	905	3	GPKOW	23	48976067	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08		48976067	106294493	48	6816											
BRCC3	79184	broad.mit.edu	37	X	154299902	154299902	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1409-01A-01W-0492-08	TCGA-13-1409-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	190a2803-8e25-4b87-8f7b-192e8923965e	97d5fc6e-f5d2-4581-ac75-809d6492016c	g.chrX:154299902G>A	ENST00000369462.1	+	1	125	c.100G>A	c.(100-102)Gta>Ata	p.V34I	MTCP1_ENST00000369476.3_5'Flank|CMC4_ENST00000369484.3_5'Flank|BRCC3_ENST00000340647.4_Missense_Mutation_p.V34I|MTCP1_ENST00000362018.2_Intron|MTCP1_ENST00000482244.1_5'Flank|BRCC3_ENST00000369459.2_Missense_Mutation_p.V34I|BRCC3_ENST00000399042.1_Missense_Mutation_p.V34I|BRCC3_ENST00000330045.7_Missense_Mutation_p.V34I	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	34	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V34I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAGGAGGAAGTAATGGGGCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	X											42	55	51					X																	154299902		2119	4200	6319	153953096	SO:0001583	missense	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.100G>A	X.37:g.154299902G>A	ENSP00000358474:p.Val34Ile		153953096	A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970308	0.74246	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026	T;T;T;T;T;T	0.63580	-0.05;-0.0;-0.0;-0.0;-0.0;-0.0	4.09	4.09	0.47781	.	0.000000	0.64402	D	0.000003	T	0.67702	0.2921	L	0.52126	1.63	0.80722	D	1	D;D;D	0.55385	0.971;0.971;0.958	P;P;P	0.57911	0.629;0.629;0.829	T	0.68307	-0.5443	10	0.46703	T	0.11	-12.1638	11.407	0.49904	0.0:0.0:1.0:0.0	.	34;34;34	P46736-3;P46736-2;P46736	.;.;BRCC3_HUMAN	I	34	ENSP00000344103:V34I;ENSP00000328641:V34I;ENSP00000358471:V34I;ENSP00000358474:V34I;ENSP00000413170:V34I;ENSP00000381998:V34I	ENSP00000328641:V34I	V	+	1	0	BRCC3	153953096	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	6.750000	0.74888	1.968000	0.57251	0.600000	0.82982	GTA		0.612	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		A	154299902	G	A	154299902	3	1	124	1	0	0	0	0	1	0	0	0	1500	1029	36	2	102	2	BRCC3	23	154299902	Missense_Mutation	SNP	G	TCGA-13-1409-01A-01W-0492-08	105323835	154299902	970658	49	6817											
ZC3H12A	80149	broad.mit.edu	37	1	37945952	37945952	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr1:37945952G>A	ENST00000373087.6	+	3	621	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.E169K(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)				CTGGTTTCTGGAGCGGGGCCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											88	76	80					1																	37945952		2203	4300	6503	37718539	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.505G>A	1.37:g.37945952G>A	ENSP00000362179:p.Glu169Lys		37718539		Missense_Mutation	SNP	ENST00000373087.6	37	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	36	5.735931	0.96865	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.40756	1.02	4.8	4.8	0.61643	Ribonuclease Zc3h12a-like (1);	0.173078	0.49916	D	0.000126	T	0.30916	0.0780	N	0.05050	-0.12	0.80722	D	1	B	0.33379	0.41	B	0.41174	0.349	T	0.20405	-1.0276	10	0.27082	T	0.32	-33.2722	18.2296	0.89929	0.0:0.0:1.0:0.0	.	169	Q5D1E8	ZC12A_HUMAN	K	169	ENSP00000362179:E169K	ENSP00000362174:E169K	E	+	1	0	ZC3H12A	37718539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.428000	0.80296	2.387000	0.81309	0.563000	0.77884	GAG		0.622	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		A	37945952	G	A	37945952	3	1	125	1	0	0	0	0	1	0	0	0	17561	1175	41	2	511	2	ZC3H12A	1	37945952	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08		37945952	211304669	1	6818											
LPAR3	23566	broad.mit.edu	37	1	85331281	85331281	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	-	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr1:85331281delC	ENST00000440886.1	-	1	561	c.523delG	c.(523-525)gccfs	p.A175fs	LPAR3_ENST00000370611.3_Frame_Shift_Del_p.A175fs|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	175					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.A175fs*61(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAAGAGCAGGCAGAGATGTTG	0.537																																																1	Deletion - Frameshift(1)	ovary(1)	1											112	108	109					1																	85331281		2203	4300	6503	85103869	SO:0001589	frameshift_variant	23566			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.523delG	1.37:g.85331281delC	ENSP00000395389:p.Ala175fs		85103869	A0AVA3	Frame_Shift_Del	DEL	ENST00000440886.1	37	CCDS700.1																																																																																				0.537	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		-	85331281	C	-	85331281	7	5	125	1	0	1	0	1	0	0	0	0	8906	710	25	0	546	0	LPAR3	1	85331281	Frame_Shift_Del	DEL	C	TCGA-13-1410-01A-01W-0492-08	47385329	85331281	163919340	2	6819											
SNX7	51375	broad.mit.edu	37	1	99156719	99156719	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr1:99156719C>G	ENST00000306121.3	+	3	461	c.452C>G	c.(451-453)gCa>gGa	p.A151G	SNX7_ENST00000529992.1_Missense_Mutation_p.A151G|SNX7_ENST00000370189.5_Missense_Mutation_p.A87G	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	87	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.A87G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CTGGAAGAAGCACACCCCACT	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											83	79	80					1																	99156719		2203	4300	6503	98929307	SO:0001583	missense	51375			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.452C>G	1.37:g.99156719C>G	ENSP00000304429:p.Ala151Gly		98929307	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653451	0.47362	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.98	5.07	0.68467	.	0.200083	0.53938	D	0.000052	T	0.44329	0.1288	L	0.49513	1.565	0.52099	D	0.999942	D;B;B	0.58970	0.984;0.364;0.251	P;B;B	0.59487	0.858;0.238;0.124	T	0.41893	-0.9483	10	0.46703	T	0.11	-14.4262	15.1792	0.72941	0.0:0.9329:0.0:0.0671	.	151;151;87	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	G	87;151;151;87	ENSP00000359208:A87G;ENSP00000434731:A151G;ENSP00000304429:A151G;ENSP00000388266:A87G	ENSP00000304429:A151G	A	+	2	0	SNX7	98929307	0.872000	0.30054	0.989000	0.46669	0.895000	0.52256	1.672000	0.37523	1.544000	0.49359	0.650000	0.86243	GCA		0.363	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			G	99156719	C	G	99156719	3	3	125	1	0	0	0	0	1	0	0	0	14910	710	25	3	462	3	SNX7	1	99156719	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	13825438	99156719	150093902	3	6820											
CELSR2	1952	broad.mit.edu	37	1	109793755	109793755	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr1:109793755C>T	ENST00000271332.3	+	1	1115	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	352	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R352C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GATCCGAACCCGTGGCCCTGT	0.627																																					NSCLC(158;1285 2011 34800 34852 42084)											1	Substitution - Missense(1)	ovary(1)	1											49	53	52					1																	109793755		2203	4300	6503	109595278	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1054C>T	1.37:g.109793755C>T	ENSP00000271332:p.Arg352Cys		109595278	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	12.96	2.095815	0.36952	.	.	ENSG00000143126	ENST00000271332	T	0.01745	4.66	4.99	4.06	0.47325	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01558	0.0050	M	0.76727	2.345	0.31192	N	0.700803	B	0.24426	0.103	B	0.25140	0.058	T	0.21552	-1.0242	9	0.59425	D	0.04	.	13.875	0.63647	0.3518:0.6482:0.0:0.0	.	352	Q9HCU4	CELR2_HUMAN	C	352	ENSP00000271332:R352C	ENSP00000271332:R352C	R	+	1	0	CELSR2	109595278	0.100000	0.21855	0.976000	0.42696	0.996000	0.88848	1.166000	0.31834	1.321000	0.45227	0.555000	0.69702	CGT		0.627	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109793755	C	T	109793755	3	4	125	1	0	0	0	0	1	0	0	0	3222	652	23	1	1056	1	CELSR2	1	109793755	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	10637036	109793755	139456866	4	6821											
CD1D	912	broad.mit.edu	37	1	158152681	158152681	+	Silent	SNP	C	C	T	rs371162796		TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr1:158152681C>T	ENST00000368171.3	+	5	1120	c.621C>T	c.(619-621)gcC>gcT	p.A207A		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	207	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.A207A(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCCCAAGGCCTGGCTGTCCC	0.552																																																1	Substitution - coding silent(1)	ovary(1)	1						C		0,4406		0,0,2203	74	78	77		621	2.3	1	1		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CD1D	NM_001766.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		207/336	158152681	1,13005	2203	4300	6503	156419305	SO:0001819	synonymous_variant	912			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.621C>T	1.37:g.158152681C>T			156419305	D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	CCDS1173.1																																																																																				0.552	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		T	158152681	C	T	158152681	2	4	125	1	0	0	0	0	0	0	0	1	2977	668	24	2		2	CD1D	1	158152681	Silent	SNP	C	TCGA-13-1410-01A-01W-0492-08	48358926	158152681	91097940	5	6822											
CACNA1E	777	broad.mit.edu	37	1	181726188	181726188	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr1:181726188G>C	ENST00000367573.2	+	30	4255	c.4255G>C	c.(4255-4257)Gtg>Ctg	p.V1419L	CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1400L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1351L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1026L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1400L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1370L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1419L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1419					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V1419L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAATATCTTTGTGGCTCTCAT	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											157	155	155					1																	181726188		1942	4160	6102	179992811	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4255G>C	1.37:g.181726188G>C	ENSP00000356545:p.Val1419Leu		179992811	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430319	0.96150	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.75	5.75	0.90469	Ion transport (1);	0.061993	0.64402	D	0.000003	D	0.98520	0.9506	L	0.49699	1.58	0.80722	D	1	P;D;D	0.67145	0.653;0.987;0.996	D;D;D	0.78314	0.917;0.991;0.987	D	0.99461	1.0943	10	0.52906	T	0.07	.	19.5549	0.95342	0.0:0.0:1.0:0.0	.	1400;1419;1419	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1419;1400;1370;1351;1026;1400;1419	ENSP00000356542:V1419L;ENSP00000434814:V1400L;ENSP00000350183:V1370L;ENSP00000351101:V1351L;ENSP00000356539:V1026L;ENSP00000353222:V1400L;ENSP00000356545:V1419L	ENSP00000350183:V1370L	V	+	1	0	CACNA1E	179992811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.716000	0.92895	0.655000	0.94253	GTG		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		C	181726188	G	C	181726188	3	2	125	1	0	0	0	0	1	0	0	0	2542	1377	48	3	4373	3	CACNA1E	1	181726188	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	23573507	181726188	67524433	6	6823											
GMCL1	64395	broad.mit.edu	37	2	70076786	70076786	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr2:70076786G>T	ENST00000282570.3	+	8	1097	c.846G>T	c.(844-846)tgG>tgT	p.W282C		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	282					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.W282C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TAACTTAGTGGATGTTCCTTC	0.294																																																1	Substitution - Missense(1)	ovary(1)	2											64	67	66					2																	70076786		2202	4300	6502	69930290	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.846G>T	2.37:g.70076786G>T	ENSP00000282570:p.Trp282Cys		69930290	Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218863	0.39201	.	.	ENSG00000087338	ENST00000282570	D	0.85702	-2.02	5.56	5.56	0.83823	BTB/Kelch-associated (2);	0.116625	0.64402	D	0.000006	D	0.92554	0.7635	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.93267	0.6648	10	0.87932	D	0	-23.8515	17.0154	0.86418	0.0:0.0:1.0:0.0	.	282	Q96IK5	GMCL1_HUMAN	C	282	ENSP00000282570:W282C	ENSP00000282570:W282C	W	+	3	0	GMCL1	69930290	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	8.658000	0.91110	2.605000	0.88082	0.655000	0.94253	TGG		0.294	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		T	70076786	G	T	70076786	3	4	125	1	0	0	0	0	1	0	0	0	6485	1183	41	3	876	3	GMCL1	2	70076786	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08		70076786	173122587	7	6824											
C2orf65	130951	broad.mit.edu	37	2	74787347	74787347	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr2:74787347G>T	ENST00000290536.5	-	9	1469	c.1353C>A	c.(1351-1353)caC>caA	p.H451Q	M1AP_ENST00000536235.1_Missense_Mutation_p.H451Q|M1AP_ENST00000409585.1_Missense_Mutation_p.H451Q|M1AP_ENST00000358434.2_Missense_Mutation_p.H100Q|M1AP_ENST00000464686.1_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	451					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.H451Q(1)									TGCTGCTCAGGTGTGAGTACA	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											94	87	89					2																	74787347		2203	4300	6503	74640855	SO:0001583	missense	130951				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1353C>A	2.37:g.74787347G>T	ENSP00000290536:p.His451Gln		74640855	B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274004	0.59649	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.41	1.52	0.23074	.	0.172164	0.51477	D	0.000096	T	0.56499	0.1989	M	0.62723	1.935	0.34805	D	0.737134	P;D;P;D	0.76494	0.925;0.999;0.925;0.963	P;D;P;P	0.64776	0.649;0.929;0.649;0.698	T	0.62553	-0.6830	10	0.40728	T	0.16	-2.0389	7.1867	0.25803	0.3773:0.0:0.6227:0.0	.	451;100;451;207	E9PGG8;Q8TC57-3;Q8TC57;B3KX03	.;.;CB065_HUMAN;.	Q	451;451;451;100	ENSP00000290536:H451Q;ENSP00000386793:H451Q;ENSP00000445662:H451Q;ENSP00000351213:H100Q	ENSP00000290536:H451Q	H	-	3	2	C2orf65	74640855	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	0.368000	0.20399	0.407000	0.25591	-0.258000	0.10820	CAC		0.597	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		T	74787347	G	T	74787347	3	4	125	1	0	0	0	0	1	0	0	0	2184	1252	44	3	251	3	C2orf65	2	74787347	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	4710561	74787347	168412026	8	6825											
SEMA4F	10505	broad.mit.edu	37	2	74889904	74889904	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr2:74889904G>A	ENST00000357877.2	+	5	651	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	168	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.G168R(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GAGTGGCCGGGGGAAATGTCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											174	170	171					2																	74889904		2203	4300	6503	74743412	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.502G>A	2.37:g.74889904G>A	ENSP00000350547:p.Gly168Arg		74743412	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495035	0.85069	.	.	ENSG00000135622	ENST00000357877;ENST00000434486	T;T	0.36157	1.27;1.27	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.911	T	0.73886	-0.3841	10	0.87932	D	0	.	14.8228	0.70085	0.0:0.0:1.0:0.0	.	135;168	C9K0A1;O95754	.;SEM4F_HUMAN	R	168;135	ENSP00000350547:G168R;ENSP00000407698:G135R	ENSP00000350547:G168R	G	+	1	0	SEMA4F	74743412	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.811000	0.62606	2.557000	0.86248	0.655000	0.94253	GGG		0.522	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		A	74889904	G	A	74889904	3	1	125	1	0	0	0	0	1	0	0	0	14038	1232	43	2	520	2	SEMA4F	2	74889904	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	102557	74889904	168309469	9	6826											
STAM2	10254	broad.mit.edu	37	2	152988652	152988652	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr2:152988652T>G	ENST00000263904.4	-	11	1350	c.1001A>C	c.(1000-1002)gAt>gCt	p.D334A		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	334	Interaction with HGS. {ECO:0000250}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D334A(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AAGTTTTTCATCTATCATTGG	0.323																																																1	Substitution - Missense(1)	ovary(1)	2											82	85	84					2																	152988652		2202	4297	6499	152696898	SO:0001583	missense	10254			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1001A>C	2.37:g.152988652T>G	ENSP00000263904:p.Asp334Ala		152696898	A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463446	0.84425	.	.	ENSG00000115145	ENST00000263904	T	0.20463	2.07	5.02	5.02	0.67125	.	0.094070	0.64402	D	0.000001	T	0.49184	0.1542	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.79784	0.993;0.887	T	0.53092	-0.8487	10	0.20046	T	0.44	-9.8091	14.7409	0.69455	0.0:0.0:0.0:1.0	.	334;334	O75886-2;O75886	.;STAM2_HUMAN	A	334	ENSP00000263904:D334A	ENSP00000263904:D334A	D	-	2	0	STAM2	152696898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.185000	0.77714	1.879000	0.54435	0.533000	0.62120	GAT		0.323	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		G	152988652	T	G	152988652	3	3	125	1	0	0	0	0	1	0	0	0	15251	1435	50	5	592	5	STAM2	2	152988652	Missense_Mutation	SNP	T	TCGA-13-1410-01A-01W-0492-08	78098748	152988652	90210721	10	6827											
ZNF804A	91752	broad.mit.edu	37	2	185800524	185800524	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr2:185800524G>A	ENST00000302277.6	+	4	995	c.401G>A	c.(400-402)gGc>gAc	p.G134D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	134							metal ion binding (GO:0046872)	p.G134D(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTGGAAGTGGCCCCATGTTC	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											54	53	53					2																	185800524		2203	4299	6502	185508769	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.401G>A	2.37:g.185800524G>A	ENSP00000303252:p.Gly134Asp		185508769	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362149	0.82353	.	.	ENSG00000170396	ENST00000302277	T	0.23754	1.89	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000059	T	0.54271	0.1848	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.59595	-0.7425	10	0.87932	D	0	-10.6493	17.6772	0.88234	0.0:0.0:1.0:0.0	.	134	Q7Z570	Z804A_HUMAN	D	134	ENSP00000303252:G134D	ENSP00000303252:G134D	G	+	2	0	ZNF804A	185508769	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.418000	0.82041	0.467000	0.42956	GGC		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185800524	G	A	185800524	3	1	125	1	0	0	0	0	1	0	0	0	18170	1203	42	2	415	2	ZNF804A	2	185800524	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	32811872	185800524	57398849	11	6828											
PASK	23178	broad.mit.edu	37	2	242078140	242078140	+	Missense_Mutation	SNP	G	G	A	rs145741558	byFrequency	TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr2:242078140G>A	ENST00000405260.1	-	5	1368	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	PASK_ENST00000234040.4_Missense_Mutation_p.R224C|PASK_ENST00000358649.4_Missense_Mutation_p.R224C|PASK_ENST00000403638.3_Missense_Mutation_p.R224C|PASK_ENST00000544142.1_Missense_Mutation_p.R38C|PASK_ENST00000539818.1_Missense_Mutation_p.R8C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	224					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R224C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CATAGGCGGCGCTCCTGCCGC	0.577													G|||	2	0.000399361	8e-04	0	5008	,	,		16617	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	96	101		670	1.8	0.5	2	dbSNP_134	101	0,8600		0,0,4300	yes	missense	PASK	NM_015148.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	224/1324	242078140	1,13005	2203	4300	6503	241726813	SO:0001583	missense	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.670C>T	2.37:g.242078140G>A	ENSP00000384016:p.Arg224Cys		241726813	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.93	2.086872	0.36855	2.27E-4	0.0	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638;ENST00000415234	D;T;D;D;T;D;T	0.99607	-6.27;-0.54;-6.27;-6.27;-0.54;-6.27;-0.54	4.65	1.8	0.24995	PAS (1);PAS fold (1);	1.160130	0.06318	N	0.704032	D	0.97133	0.9063	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.001;0.0;0.002;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	D	0.96768	0.9566	10	0.41790	T	0.15	.	7.9221	0.29852	0.2691:0.0:0.7309:0.0	.	224;38;224;224;224	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	C	224;38;224;224;8;224;8	ENSP00000234040:R224C;ENSP00000441374:R38C;ENSP00000384016:R224C;ENSP00000351475:R224C;ENSP00000443083:R8C;ENSP00000384438:R224C;ENSP00000400734:R8C	ENSP00000234040:R224C	R	-	1	0	PASK	241726813	0.005000	0.15991	0.505000	0.27651	0.928000	0.56348	1.165000	0.31822	0.957000	0.37930	0.591000	0.81541	CGC		0.577	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242078140	G	A	242078140	3	1	125	1	0	0	0	0	1	0	0	0	11472	1087	38	1	3357	1	PASK	2	242078140	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	56277616	242078140	1121233	12	6829											
CSRNP1	64651	broad.mit.edu	37	3	39185035	39185035	+	Silent	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr3:39185035G>A	ENST00000273153.5	-	5	1458	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	CSRNP1_ENST00000514182.1_Silent_p.D427D	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	427					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	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.D427D(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TACCAAAGATGTCAGCTGGAT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	3											69	70	69					3																	39185035		2203	4300	6503	39160039	SO:0001819	synonymous_variant	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1281C>T	3.37:g.39185035G>A			39160039	Q69YY5	Silent	SNP	ENST00000273153.5	37	CCDS2682.1																																																																																				0.567	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		A	39185035	G	A	39185035	2	1	125	1	0	0	0	0	0	0	0	1	3963	1368	48	2		2	CSRNP1	3	39185035	Silent	SNP	G	TCGA-13-1410-01A-01W-0492-08		39185035	158837395	13	6830											
RAD54L2	23132	broad.mit.edu	37	3	51663424	51663424	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr3:51663424G>A	ENST00000409535.2	+	4	541	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	139						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.R139H(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGAAGGAAGCGCCTGGAGCAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	3											106	99	102					3																	51663424		2203	4300	6503	51638464	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.416G>A	3.37:g.51663424G>A	ENSP00000386520:p.Arg139His		51638464	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361172	0.82353	.	.	ENSG00000164080	ENST00000409535	T	0.24908	1.83	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52253	-0.8600	10	0.72032	D	0.01	-10.4571	18.2757	0.90083	0.0:0.0:1.0:0.0	.	139	Q9Y4B4	ARIP4_HUMAN	H	139	ENSP00000386520:R139H	ENSP00000386520:R139H	R	+	2	0	RAD54L2	51638464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.405000	0.97313	2.543000	0.85770	0.655000	0.94253	CGC		0.512	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		A	51663424	G	A	51663424	3	1	125	1	0	0	0	0	1	0	0	0	12997	1087	38	1	426	1	RAD54L2	3	51663424	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	12478389	51663424	146359006	14	6831											
PHLDB2	90102	broad.mit.edu	37	3	111603606	111603606	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr3:111603606G>A	ENST00000431670.2	+	2	1093	c.682G>A	c.(682-684)Gag>Aag	p.E228K	PHLDB2_ENST00000481953.1_Missense_Mutation_p.E228K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E228K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E228K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E228K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E255K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E228K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	228						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.E228K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TAGACACAAGGAGCTTGCATC	0.512																																																1	Substitution - Missense(1)	ovary(1)	3											71	74	73					3																	111603606		2203	4300	6503	113086296	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.682G>A	3.37:g.111603606G>A	ENSP00000405405:p.Glu228Lys		113086296	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096605	0.36952	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.37915	1.17;1.21;1.19;1.22;1.21;1.19	5.61	5.61	0.85477	.	0.275897	0.31450	N	0.007630	T	0.31734	0.0806	L	0.36672	1.1	0.34145	D	0.666822	B;P;P;B;B	0.41848	0.039;0.675;0.763;0.073;0.277	B;B;B;B;B	0.39840	0.024;0.273;0.311;0.053;0.053	T	0.35649	-0.9780	10	0.26408	T	0.33	.	16.9138	0.86146	0.0:0.0:1.0:0.0	.	228;228;228;228;255	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	K	255;255;228;228;228;228;228;228;228	ENSP00000377500:E255K;ENSP00000405405:E228K;ENSP00000405292:E228K;ENSP00000418296:E228K;ENSP00000377502:E228K;ENSP00000418319:E228K	ENSP00000352764:E255K	E	+	1	0	PHLDB2	113086296	1.000000	0.71417	0.844000	0.33320	0.233000	0.25261	6.763000	0.74955	2.813000	0.96785	0.655000	0.94253	GAG		0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		A	111603606	G	A	111603606	3	1	125	1	0	0	0	0	1	0	0	0	11852	1175	41	2	769	2	PHLDB2	3	111603606	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	59940182	111603606	86418824	15	6832											
PHLDB2	90102	broad.mit.edu	37	3	111693368	111693368	+	Silent	SNP	T	T	C			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr3:111693368T>C	ENST00000431670.2	+	18	4131	c.3720T>C	c.(3718-3720)gtT>gtC	p.V1240V	PHLDB2_ENST00000495180.1_Silent_p.V731V|PHLDB2_ENST00000481953.1_Silent_p.V1197V|PHLDB2_ENST00000412622.1_Silent_p.V1197V|PHLDB2_ENST00000393925.3_Silent_p.V1240V|PHLDB2_ENST00000393923.3_Silent_p.V1224V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1240	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.V1197V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGATGGATGTTATAGTTACGG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	3											134	136	135					3																	111693368		2203	4300	6503	113176058	SO:0001819	synonymous_variant	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3720T>C	3.37:g.111693368T>C			113176058	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	CCDS46886.1																																																																																				0.458	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		C	111693368	T	C	111693368	2	2	125	1	0	0	0	0	0	0	0	1	11852	1741	61	4		4	PHLDB2	3	111693368	Silent	SNP	T	TCGA-13-1410-01A-01W-0492-08	89762	111693368	86329062	16	6833											
SLITRK3	22865	broad.mit.edu	37	3	164906421	164906421	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr3:164906421G>T	ENST00000475390.1	-	2	2641	c.2198C>A	c.(2197-2199)gCc>gAc	p.A733D	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A733D			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	733					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.A733D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CACGGGAGGGGCCTTCTCTGG	0.577										HNSCC(40;0.11)																																						1	Substitution - Missense(1)	ovary(1)	3											70	59	63					3																	164906421		2203	4300	6503	166389115	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2198C>A	3.37:g.164906421G>T	ENSP00000420091:p.Ala733Asp		166389115	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	8.235	0.805614	0.16467	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53206	0.63;0.63	5.44	5.44	0.79542	.	0.000000	0.37623	N	0.002018	T	0.39279	0.1072	L	0.36672	1.1	0.44816	D	0.997826	P	0.48911	0.917	B	0.38655	0.278	T	0.21211	-1.0252	10	0.33940	T	0.23	-13.8677	18.1971	0.89826	0.0:0.0:1.0:0.0	.	733	O94933	SLIK3_HUMAN	D	733	ENSP00000420091:A733D;ENSP00000241274:A733D	ENSP00000241274:A733D	A	-	2	0	SLITRK3	166389115	0.864000	0.29904	0.994000	0.49952	0.756000	0.42949	2.792000	0.47837	2.832000	0.97577	0.655000	0.94253	GCC		0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		T	164906421	G	T	164906421	3	4	125	1	0	0	0	0	1	0	0	0	14747	1203	42	3	739	3	SLITRK3	3	164906421	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	53213053	164906421	33116009	17	6834											
PEX5L	51555	broad.mit.edu	37	3	179527346	179527346	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr3:179527346T>G	ENST00000467460.1	-	12	1595	c.1265A>C	c.(1264-1266)aAg>aCg	p.K422T	PEX5L_ENST00000476138.1_Missense_Mutation_p.K379T|PEX5L_ENST00000485199.1_Missense_Mutation_p.K387T|PEX5L_ENST00000472994.1_Missense_Mutation_p.K363T|PEX5L_ENST00000464614.1_Missense_Mutation_p.K314T|PEX5L_ENST00000465751.1_Missense_Mutation_p.K398T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.K230T|PEX5L_ENST00000392649.3_Missense_Mutation_p.K314T|PEX5L_ENST00000263962.8_Missense_Mutation_p.K420T	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	422					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.K422T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGGATTTTGCTTAATCCAATT	0.463																																																1	Substitution - Missense(1)	ovary(1)	3											149	137	141					3																	179527346		2203	4300	6503	181010040	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1265A>C	3.37:g.179527346T>G	ENSP00000419975:p.Lys422Thr		181010040	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.465854	0.43839	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	6.03	-0.0835	0.13694	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.329403	0.32401	N	0.006151	T	0.64843	0.2635	L	0.38175	1.15	0.41702	D	0.989409	B;B;B;B;B;B	0.20780	0.048;0.048;0.009;0.019;0.007;0.011	B;B;B;B;B;B	0.21151	0.031;0.031;0.011;0.033;0.022;0.014	T	0.56306	-0.8001	10	0.39692	T	0.17	-14.3543	10.3339	0.43839	0.0:0.3146:0.0:0.6854	.	363;398;314;420;387;422	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	T	422;420;387;420;314;230;379;310;363;314;398	ENSP00000419975:K422T;ENSP00000263962:K420T;ENSP00000418440:K387T;ENSP00000376420:K314T;ENSP00000418665:K230T;ENSP00000420555:K379T;ENSP00000418054:K363T;ENSP00000417270:K314T;ENSP00000419348:K398T	ENSP00000263962:K420T	K	-	2	0	PEX5L	181010040	0.940000	0.31905	1.000000	0.80357	0.996000	0.88848	0.102000	0.15272	0.187000	0.20147	0.455000	0.32223	AAG		0.463	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		G	179527346	T	G	179527346	3	3	125	1	0	0	0	0	1	0	0	0	11749	1609	56	5	631	5	PEX5L	3	179527346	Missense_Mutation	SNP	T	TCGA-13-1410-01A-01W-0492-08	14620925	179527346	18495084	18	6835											
UBXN7	26043	broad.mit.edu	37	3	196118689	196118689	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr3:196118689C>G	ENST00000296328.4	-	5	537	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	RNU6-1279P_ENST00000383917.1_RNA|UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_Missense_Mutation_p.E7Q	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	155						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.E155Q(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTTACTGTTTCAAAGCTGCCT	0.368																																																1	Substitution - Missense(1)	ovary(1)	3											152	140	144					3																	196118689		1868	4104	5972	197603086	SO:0001583	missense	26043			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"UBX domain containing"	29119	protein-coding gene	gene with protein product			"UBX domain containing 7"	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.463G>C	3.37:g.196118689C>G	ENSP00000296328:p.Glu155Gln		197603086	D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.588065	0.66105	.	.	ENSG00000163960	ENST00000296328;ENST00000535858	T;T	0.51071	0.72;0.72	5.37	5.37	0.77165	UAS (1);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.64080	1.96	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	T	0.61357	-0.7079	10	0.30854	T	0.27	-14.4135	18.7235	0.91704	0.0:1.0:0.0:0.0	.	155	O94888	UBXN7_HUMAN	Q	155;7	ENSP00000296328:E155Q;ENSP00000440716:E7Q	ENSP00000296328:E155Q	E	-	1	0	UBXN7	197603086	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	7.045000	0.76585	2.512000	0.84698	0.655000	0.94253	GAA		0.368	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		G	196118689	C	G	196118689	3	3	125	1	0	0	0	0	1	0	0	0	16918	835	29	3	1034	3	UBXN7	3	196118689	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	16591343	196118689	1903741	19	6836											
HAVCR1	26762	broad.mit.edu	37	5	156482480	156482480	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr5:156482480G>C	ENST00000339252.3	-	2	643	c.111C>G	c.(109-111)caC>caG	p.H37Q	HAVCR1_ENST00000425854.1_Missense_Mutation_p.H37Q|HAVCR1_ENST00000522693.1_Missense_Mutation_p.H37Q|HAVCR1_ENST00000523175.1_Missense_Mutation_p.H37Q|HAVCR1_ENST00000544197.1_Missense_Mutation_p.H37Q	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.H37Q(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCACTGTAGTGGCAGGGTA	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											69	68	69					5																	156482480		1966	4160	6126	156415058	SO:0001583	missense	26762			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.111C>G	5.37:g.156482480G>C	ENSP00000344844:p.His37Gln		156415058	O43656	Missense_Mutation	SNP	ENST00000339252.3	37	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	9.707	1.156084	0.21454	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.44	-4.85	0.03142	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.795960	0.02300	N	0.071087	T	0.34048	0.0884	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.04013	0.001;0.001	T	0.07195	-1.0785	10	0.28530	T	0.3	-0.7794	1.1636	0.01810	0.2407:0.2771:0.2952:0.1869	.	37;37	F1CME6;Q96D42	.;HAVR1_HUMAN	Q	37	ENSP00000428524:H37Q;ENSP00000427898:H37Q;ENSP00000344844:H37Q;ENSP00000403333:H37Q;ENSP00000440258:H37Q;ENSP00000428422:H37Q	ENSP00000344844:H37Q	H	-	3	2	HAVCR1	156415058	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.596000	0.05720	-0.616000	0.05671	0.650000	0.86243	CAC		0.483	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			C	156482480	G	C	156482480	3	2	125	1	0	0	0	0	1	0	0	0	6973	1020	36	3	1011	3	HAVCR1	5	156482480	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08		156482480	24432780	20	6837											
ASCC3	10973	broad.mit.edu	37	6	100957917	100957917	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr6:100957917T>C	ENST00000369162.2	-	41	6696	c.6352A>G	c.(6352-6354)Ata>Gta	p.I2118V		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2118	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.I2118V(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCTCCTAATATCAAAAACCAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											194	216	209					6																	100957917		2203	4300	6503	101064638	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.6352A>G	6.37:g.100957917T>C	ENSP00000358159:p.Ile2118Val		101064638	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	5.420	0.262597	0.10294	.	.	ENSG00000112249	ENST00000369162	T	0.52754	0.65	5.51	5.51	0.81932	Sec63 domain (3);	0.113755	0.64402	D	0.000015	T	0.12347	0.0300	N	0.10664	0.02	0.80722	D	1	B	0.10296	0.003	B	0.23574	0.047	T	0.12656	-1.0539	10	0.02654	T	1	.	15.9194	0.79547	0.0:0.0:0.0:1.0	.	2118	Q8N3C0	HELC1_HUMAN	V	2118	ENSP00000358159:I2118V	ENSP00000358159:I2118V	I	-	1	0	ASCC3	101064638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.024000	0.41049	2.230000	0.72887	0.528000	0.53228	ATA		0.353	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		C	100957917	T	C	100957917	3	2	125	1	0	0	0	0	1	0	0	0	1033	1435	50	4	264	4	ASCC3	6	100957917	Missense_Mutation	SNP	T	TCGA-13-1410-01A-01W-0492-08		100957917	70157150	21	6838											
UST	10090	broad.mit.edu	37	6	149285592	149285592	+	Missense_Mutation	SNP	G	G	A	rs377151286		TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr6:149285592G>A	ENST00000367463.4	+	5	677	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	RP11-162J8.2_ENST00000413845.1_RNA	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	192					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.V192I(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TAGAGACCCCGTCAACCGGTT	0.502																																																1	Substitution - Missense(1)	ovary(1)	6						G	ILE/VAL	0,4406		0,0,2203	104	95	98		574	5	1	6		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	UST	NM_005715.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	192/407	149285592	1,13005	2203	4300	6503	149327285	SO:0001583	missense	10090			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"Sulfotransferases, membrane-bound"	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.574G>A	6.37:g.149285592G>A	ENSP00000356433:p.Val192Ile		149327285	B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774427	0.31411	0.0	1.16E-4	ENSG00000111962	ENST00000367463	T	0.73789	-0.78	5.87	5.0	0.66597	.	0.110649	0.64402	N	0.000008	T	0.36468	0.0968	N	0.11724	0.165	0.40747	D	0.982885	B	0.32396	0.369	B	0.25759	0.063	T	0.38457	-0.9660	10	0.23891	T	0.37	-19.6816	12.1449	0.54018	0.1369:0.0:0.8631:0.0	.	192	Q9Y2C2	UST_HUMAN	I	192	ENSP00000356433:V192I	ENSP00000356433:V192I	V	+	1	0	UST	149327285	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.447000	0.66606	1.500000	0.48636	0.650000	0.86243	GTC		0.502	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		A	149285592	G	A	149285592	3	1	125	1	0	0	0	0	1	0	0	0	17093	1145	40	1	592	1	UST	6	149285592	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	48327675	149285592	21829475	22	6839											
PDE10A	10846	broad.mit.edu	37	6	165806284	165806284	+	Splice_Site	SNP	A	A	C			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr6:165806284A>C	ENST00000366882.1	-	17	1631	c.1477T>G	c.(1477-1479)Ttt>Gtt	p.F493V	PDE10A_ENST00000354448.4_Splice_Site_p.F493V|PDE10A_ENST00000539869.2_Splice_Site_p.F503V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	493					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.F493V(1)|p.F493L(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)	TCAAGCTCAAAGCTGCATGGA	0.403																																					Esophageal Squamous(22;308 615 5753 12038 40624)											2	Substitution - Missense(2)	ovary(1)|endometrium(1)	6											101	93	96					6																	165806284		2203	4300	6503	165726274	SO:0001630	splice_region_variant	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.1476-1T>G	6.37:g.165806284A>C			165726274	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	A	17.22	3.333728	0.60853	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.75589	-0.95;-0.95	5.43	5.43	0.79202	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	L	0.35644	1.08	0.80722	D	1	D;D	0.60160	0.978;0.987	D;P	0.72982	0.979;0.882	T	0.71642	-0.4531	10	0.25106	T	0.35	.	15.5012	0.75700	1.0:0.0:0.0:0.0	.	503;493	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	493;521;503;493;492	ENSP00000355847:F493V;ENSP00000346435:F493V	ENSP00000341187:F503V	F	-	1	0	PDE10A	165726274	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	8.584000	0.90798	2.058000	0.61347	0.477000	0.44152	TTT		0.403	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		Missense_Mutation	C	165806284	A	C	165806284	5	2	125	1	0	0	0	0	0	0	1	0	11630	86	3	5	890	5	PDE10A	6	165806284	Splice_Site	SNP	A	TCGA-13-1410-01A-01W-0492-08	16520692	165806284	5308783	23	6840											
PSMB1	5689	broad.mit.edu	37	6	170846365	170846365	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr6:170846365C>G	ENST00000262193.6	-	5	595	c.497G>C	c.(496-498)gGa>gCa	p.G166A	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.G166A(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TGCTGAGCCTCCAGCCTTGAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											104	83	90					6																	170846365		2203	4300	6503	170688290	SO:0001583	missense	5689			D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"Proteasome (prosome, macropain) subunits"	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.497G>C	6.37:g.170846365C>G	ENSP00000262193:p.Gly166Ala		170688290	B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.870286	0.51588	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.20463	2.07	4.88	4.88	0.63580	.	0.098055	0.64402	D	0.000001	T	0.10937	0.0267	N	0.12611	0.24	0.80722	D	1	P	0.44578	0.838	P	0.47251	0.542	T	0.13255	-1.0516	10	0.35671	T	0.21	-11.1154	18.3975	0.90504	0.0:1.0:0.0:0.0	.	166	P20618	PSB1_HUMAN	A	166;171	ENSP00000262193:G166A	ENSP00000262193:G166A	G	-	2	0	PSMB1	170688290	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	4.262000	0.58847	2.412000	0.81896	0.455000	0.32223	GGA		0.458	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		G	170846365	C	G	170846365	3	3	125	1	0	0	0	0	1	0	0	0	12677	855	30	3	236	3	PSMB1	6	170846365	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	5040081	170846365	268702	24	6841											
DNAH11	8701	broad.mit.edu	37	7	21726772	21726772	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr7:21726772G>T	ENST00000409508.3	+	33	5708	c.5677G>T	c.(5677-5679)Ggc>Tgc	p.G1893C	DNAH11_ENST00000328843.6_Missense_Mutation_p.G1900C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1900	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G1900C(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCTCCTGCTGGCCCAGCTGG	0.433									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											82	82	82					7																	21726772		1874	4133	6007	21693297	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5677G>T	7.37:g.21726772G>T	ENSP00000475939:p.Gly1893Cys		21693297	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.478947	0.84747	.	.	ENSG00000105877	ENST00000328843	D	0.93604	-3.25	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97163	0.9839	9	0.87932	D	0	.	19.7538	0.96281	0.0:0.0:1.0:0.0	.	1900	Q96DT5	DYH11_HUMAN	C	1900	ENSP00000330671:G1900C	ENSP00000330671:G1900C	G	+	1	0	DNAH11	21693297	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.756000	0.98918	2.769000	0.95229	0.563000	0.77884	GGC		0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21726772	G	T	21726772	3	4	125	1	0	0	0	0	1	0	0	0	4599	1348	47	3	5829	3	DNAH11	7	21726772	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08		21726772	137411891	25	6842											
FOXP2	93986	broad.mit.edu	37	7	114302155	114302155	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr7:114302155T>A	ENST00000393494.2	+	14	1962	c.1683T>A	c.(1681-1683)tgT>tgA	p.C561*	FOXP2_ENST00000350908.4_Nonsense_Mutation_p.C561*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.C578*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.C586*|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.C376*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.C540*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.C469*			O15409	FOXP2_HUMAN	forkhead box P2	561					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C586*(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGCACAAGTGTTTTGTTCGAG	0.373																																																1	Substitution - Nonsense(1)	ovary(1)	7											130	121	124					7																	114302155		2203	4300	6503	114089391	SO:0001587	stop_gained	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1683T>A	7.37:g.114302155T>A	ENSP00000377132:p.Cys561*		114089391	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Nonsense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	T	40	8.427185	0.98806	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	.	.	.	X	561;586;578;561;538;469;376	.	ENSP00000265436:C561X	C	+	3	2	FOXP2	114089391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.891000	0.63185	2.279000	0.76181	0.533000	0.62120	TGT		0.373	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		A	114302155	T	A	114302155	4	1	125	1	0	0	0	0	0	1	0	0	6027	1731	60	5	1900	5	FOXP2	7	114302155	Nonsense_Mutation	SNP	T	TCGA-13-1410-01A-01W-0492-08	92575383	114302155	44836508	26	6843											
OR6B1	135946	broad.mit.edu	37	7	143701920	143701920	+	Silent	SNP	C	C	T	rs534528176		TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr7:143701920C>T	ENST00000408922.2	+	1	899	c.831C>T	c.(829-831)gcC>gcT	p.A277A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A277A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTTCTATGCCATTGTCACTC	0.423													C|||	1	0.000199681	0	0.0014	5008	,	,		23312	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	7											102	97	99					7																	143701920		1934	4125	6059	143332853	SO:0001819	synonymous_variant	135946				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.831C>T	7.37:g.143701920C>T			143332853	A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	CCDS43667.1																																																																																				0.423	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			T	143701920	C	T	143701920	2	4	125	1	0	0	0	0	0	0	0	1	11187	581	21	2		2	OR6B1	7	143701920	Silent	SNP	C	TCGA-13-1410-01A-01W-0492-08	29399765	143701920	15436743	27	6844											
CNTNAP2	26047	broad.mit.edu	37	7	147914436	147914436	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr7:147914436G>A	ENST00000361727.3	+	19	3583	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.A82T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1023					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.A1023T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGGCACCAGCAACAAATGC	0.498										HNSCC(39;0.1)																																						1	Substitution - Missense(1)	ovary(1)	7											122	122	122					7																	147914436		2203	4300	6503	147545369	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3067G>A	7.37:g.147914436G>A	ENSP00000354778:p.Ala1023Thr		147545369	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627356	0.14257	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.80123	-1.34;-1.34	5.25	-0.695	0.11291	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.909960	0.09478	N	0.796778	T	0.65943	0.2740	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44390	-0.9331	10	0.12766	T	0.61	.	5.4806	0.16721	0.4203:0.0:0.4529:0.1267	.	1023	Q9UHC6	CNTP2_HUMAN	T	1023;82	ENSP00000354778:A1023T;ENSP00000440732:A82T	ENSP00000354778:A1023T	A	+	1	0	CNTNAP2	147545369	0.012000	0.17670	0.000000	0.03702	0.027000	0.11550	1.791000	0.38744	-0.498000	0.06632	-0.258000	0.10820	GCA		0.498	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	147914436	G	A	147914436	3	1	125	1	0	0	0	0	1	0	0	0	3647	971	34	2	3141	2	CNTNAP2	7	147914436	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	4212516	147914436	11224227	28	6845											
PRKDC	5591	broad.mit.edu	37	8	48841678	48841678	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr8:48841678C>T	ENST00000314191.2	-	19	2169	c.2113G>A	c.(2113-2115)Gct>Act	p.A705T	PRKDC_ENST00000338368.3_Missense_Mutation_p.A705T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	705					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.A705T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACAAATAAAGCAAAGCAAGAA	0.308								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											1	Substitution - Missense(1)	ovary(1)	8											39	36	37					8																	48841678		1806	4066	5872	49004231	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2113G>A	8.37:g.48841678C>T	ENSP00000313420:p.Ala705Thr		49004231	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	16.10	3.026160	0.54683	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.68624	4.38;-0.34	5.28	5.28	0.74379	Armadillo-type fold (1);	0.141960	0.46442	D	0.000283	T	0.74650	0.3744	.	.	.	0.49389	D	0.999782	P;P;P	0.51057	0.939;0.941;0.941	P;P;P	0.52481	0.7;0.656;0.656	T	0.73811	-0.3865	9	0.37606	T	0.19	.	18.9571	0.92662	0.0:1.0:0.0:0.0	.	705;705;705	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	T	705	ENSP00000313420:A705T;ENSP00000345182:A705T	ENSP00000313420:A705T	A	-	1	0	PRKDC	49004231	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.772000	0.47678	2.452000	0.82932	0.460000	0.39030	GCT		0.308	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		T	48841678	C	T	48841678	3	4	125	1	0	0	0	0	1	0	0	0	12524	710	25	2	10544	2	PRKDC	8	48841678	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08		48841678	97522344	29	6846											
RIMS2	9699	broad.mit.edu	37	8	104973342	104973342	+	Silent	SNP	T	T	C			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr8:104973342T>C	ENST00000436393.2	+	13	2326	c.2085T>C	c.(2083-2085)gaT>gaC	p.D695D	RIMS2_ENST00000406091.3_Silent_p.D917D|RIMS2_ENST00000262231.10_Silent_p.D756D|RIMS2_ENST00000507740.1_Silent_p.D709D			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	979	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.D695D(1)|p.D709D(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACTGTGATGATGGAATTGGTG	0.274										HNSCC(12;0.0054)																																						2	Substitution - coding silent(2)	ovary(2)	8											104	112	110					8																	104973342		1799	4056	5855	105042518	SO:0001819	synonymous_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2085T>C	8.37:g.104973342T>C			105042518	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																					0.274	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		C	104973342	T	C	104973342	2	2	125	1	0	0	0	0	0	0	0	1	13371	1461	51	4		4	RIMS2	8	104973342	Silent	SNP	T	TCGA-13-1410-01A-01W-0492-08	56131664	104973342	41390680	30	6847											
PKHD1L1	93035	broad.mit.edu	37	8	110457675	110457675	+	Silent	SNP	C	C	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr8:110457675C>T	ENST00000378402.5	+	38	5681	c.5577C>T	c.(5575-5577)ggC>ggT	p.G1859G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1859	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G1861G(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTATCCAGGCAACACTACAG	0.502										HNSCC(38;0.096)																																						1	Substitution - coding silent(1)	ovary(1)	8											64	67	66					8																	110457675		1972	4158	6130	110526851	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5577C>T	8.37:g.110457675C>T			110526851	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.502	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110457675	C	T	110457675	2	4	125	1	0	0	0	0	0	0	0	1	11972	697	25	2		2	PKHD1L1	8	110457675	Silent	SNP	C	TCGA-13-1410-01A-01W-0492-08	5484333	110457675	35906347	31	6848											
KIAA0196	9897	broad.mit.edu	37	8	126091119	126091119	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr8:126091119C>A	ENST00000318410.7	-	6	921	c.572G>T	c.(571-573)cGa>cTa	p.R191L	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R43L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	191					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.R191L(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACCTGTACTTCGAAGCAGCTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	8											186	159	168					8																	126091119		2203	4300	6503	126160301	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.572G>T	8.37:g.126091119C>A	ENSP00000318016:p.Arg191Leu		126160301	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708908	0.89018	.	.	ENSG00000164961	ENST00000318410;ENST00000517845;ENST00000523297	D;D;D	0.88664	-2.41;-2.41;-2.41	5.13	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	M	0.86268	2.805	0.80722	D	1	P	0.39665	0.682	B	0.33799	0.17	D	0.89735	0.3929	10	0.87932	D	0	-9.8625	14.0108	0.64495	0.0:0.9261:0.0:0.0739	.	191	Q12768	STRUM_HUMAN	L	191;43;43	ENSP00000318016:R191L;ENSP00000429676:R43L;ENSP00000427946:R43L	ENSP00000318016:R191L	R	-	2	0	KIAA0196	126160301	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.687000	0.84139	1.298000	0.44778	0.591000	0.81541	CGA		0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		A	126091119	C	A	126091119	3	1	125	1	0	0	0	0	1	0	0	0	8161	884	31	3	3003	3	KIAA0196	8	126091119	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	15633444	126091119	20272903	32	6849											
KIAA2026	158358	broad.mit.edu	37	9	5923129	5923129	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr9:5923129C>T	ENST00000399933.3	-	8	2866	c.2867G>A	c.(2866-2868)aGc>aAc	p.S956N	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S926N	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	956								p.S131N(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTCATTTGTGCTTAACTTTGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	9											202	191	195					9																	5923129		1927	4152	6079	5913129	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2867G>A	9.37:g.5923129C>T	ENSP00000382815:p.Ser956Asn		5913129	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	C	17.48	3.399388	0.62177	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.65015	0.2651	L	0.32530	0.975	0.33243	D	0.557478	D	0.76494	0.999	D	0.83275	0.996	T	0.73477	-0.3970	9	0.72032	D	0.01	-5.9612	18.8849	0.92372	0.0:1.0:0.0:0.0	.	956	Q5HYC2	K2026_HUMAN	N	956;926	.	ENSP00000370870:S926N	S	-	2	0	KIAA2026	5913129	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.343000	0.44001	2.455000	0.83008	0.313000	0.20887	AGC		0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		T	5923129	C	T	5923129	3	4	125	1	0	0	0	0	1	0	0	0	8270	797	28	2	3448	2	KIAA2026	9	5923129	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08		5923129	135290302	33	6850											
ZNF462	58499	broad.mit.edu	37	9	109687547	109687547	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr9:109687547C>T	ENST00000277225.5	+	3	1643	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R452C|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	452					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R452C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CATGCATCGACGTAGCATCTC	0.433																																																1	Substitution - Missense(1)	ovary(1)	9											139	133	135					9																	109687547		2203	4300	6503	108727368	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1354C>T	9.37:g.109687547C>T	ENSP00000277225:p.Arg452Cys		108727368	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194605	0.58017	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.06933	3.24;3.68	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.08310	-1.0728	9	.	.	.	.	18.5243	0.90965	0.0:1.0:0.0:0.0	.	452;452	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	452	ENSP00000277225:R452C;ENSP00000414570:R452C	.	R	+	1	0	ZNF462	108727368	1.000000	0.71417	0.989000	0.46669	0.964000	0.63967	5.572000	0.67411	2.815000	0.96918	0.561000	0.74099	CGT		0.433	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		T	109687547	C	T	109687547	3	4	125	1	0	0	0	0	1	0	0	0	17926	536	19	1	1360	1	ZNF462	9	109687547	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	103764418	109687547	31525884	34	6851											
PFKFB3	5209	broad.mit.edu	37	10	6261552	6261552	+	Silent	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr10:6261552G>A	ENST00000379775.4	+	7	849	c.519G>A	c.(517-519)ccG>ccA	p.P173P	PFKFB3_ENST00000379785.1_Silent_p.P173P|PFKFB3_ENST00000379789.4_Silent_p.P153P|PFKFB3_ENST00000360521.2_Silent_p.P173P|PFKFB3_ENST00000317350.4_Silent_p.P173P|PFKFB3_ENST00000540253.1_Silent_p.P187P|PFKFB3_ENST00000379782.3_Silent_p.P173P|PFKFB3_ENST00000536985.1_Missense_Mutation_p.R170Q	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	173	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.P173P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TCTCCAGCCCGGATTACAAAG	0.507																																																1	Substitution - coding silent(1)	ovary(1)	10											81	81	81					10																	6261552		2203	4300	6503	6301558	SO:0001819	synonymous_variant	5209				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.519G>A	10.37:g.6261552G>A			6301558	B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595999	0.46318	.	.	ENSG00000170525	ENST00000536985	.	.	.	5.37	-3.91	0.04168	.	.	.	.	.	T	0.45478	0.1344	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53486	-0.8432	5	0.54805	T	0.06	-13.7832	2.015	0.03496	0.4323:0.0909:0.1288:0.348	.	.	.	.	Q	170	.	ENSP00000443319:R170Q	R	+	2	0	PFKFB3	6301558	0.002000	0.14202	0.990000	0.47175	0.599000	0.36880	-1.171000	0.03115	-0.220000	0.09988	-0.216000	0.12614	CGG		0.507	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			A	6261552	G	A	6261552	2	1	125	1	0	0	0	0	0	0	0	1	11762	1103	39	1		1	PFKFB3	10	6261552	Silent	SNP	G	TCGA-13-1410-01A-01W-0492-08		6261552	129273195	35	6852											
ATAD1	84896	broad.mit.edu	37	10	89514454	89514454	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr10:89514454C>A	ENST00000308448.7	-	10	1454	c.1076G>T	c.(1075-1077)tGt>tTt	p.C359F	ATAD1_ENST00000328142.3_Missense_Mutation_p.C359F|ATAD1_ENST00000400215.3_Missense_Mutation_p.C271F	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	359					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.C359F(1)		kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		TTAATCTAAACAAACATGTGT	0.373																																																1	Substitution - Missense(1)	ovary(1)	10											99	85	90					10																	89514454		2203	4300	6503	89504434	SO:0001583	missense	84896			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.1076G>T	10.37:g.89514454C>A	ENSP00000339017:p.Cys359Phe		89504434	D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	37	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767869	0.31320	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215	D;D;D	0.96104	-3.29;-3.29;-3.91	5.48	4.57	0.56435	.	0.320888	0.37577	N	0.002038	D	0.88134	0.6355	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.003	D	0.83471	0.0059	10	0.39692	T	0.17	-4.1679	10.545	0.45056	0.1396:0.789:0.0:0.0714	.	271;359	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	F	359;359;271	ENSP00000339017:C359F;ENSP00000339016:C359F;ENSP00000412968:C271F	ENSP00000339017:C359F	C	-	2	0	ATAD1	89504434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.211000	0.51137	1.441000	0.47550	0.563000	0.77884	TGT		0.373	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810		A	89514454	C	A	89514454	3	1	125	1	0	0	0	0	1	0	0	0	1070	478	17	3	13	3	ATAD1	10	89514454	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	83252902	89514454	46020293	36	6853											
TRAF6	7189	broad.mit.edu	37	11	36511561	36511561	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr11:36511561G>A	ENST00000526995.1	-	7	1642	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.R466W	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	466	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R466W(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TTTGGGTTCCGTGGGATTGTG	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											87	83	85					11																	36511561		2202	4295	6497	36468137	SO:0001583	missense	7189				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1396C>T	11.37:g.36511561G>A	ENSP00000433623:p.Arg466Trp		36468137	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033496	0.75504	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	D;D	0.83506	-1.73;-1.73	5.46	4.54	0.55810	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92051	0.5648	10	0.72032	D	0.01	-20.8278	13.5832	0.61915	0.0:0.0:0.7169:0.2831	.	466	Q9Y4K3	TRAF6_HUMAN	W	466	ENSP00000433623:R466W;ENSP00000337853:R466W	ENSP00000337853:R466W	R	-	1	2	TRAF6	36468137	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.577000	0.74027	1.428000	0.47296	0.555000	0.69702	CGG		0.438	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		A	36511561	G	A	36511561	3	1	125	1	0	0	0	0	1	0	0	0	16445	1144	40	1	176	1	TRAF6	11	36511561	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08		36511561	98494955	37	6854											
CNTN5	53942	broad.mit.edu	37	11	99715587	99715587	+	Missense_Mutation	SNP	G	G	A	rs201704992		TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr11:99715587G>A	ENST00000524871.1	+	5	571	c.281G>A	c.(280-282)aGt>aAt	p.S94N	CNTN5_ENST00000418526.2_Missense_Mutation_p.S20N|CNTN5_ENST00000528682.1_Missense_Mutation_p.S94N|CNTN5_ENST00000279463.3_Missense_Mutation_p.S94N|CNTN5_ENST00000527185.1_Missense_Mutation_p.S94N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	94					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S94N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTACAGAAAGTGTGGACTAT	0.323																																																1	Substitution - Missense(1)	ovary(1)	11											139	127	131					11																	99715587		1825	4074	5899	99220797	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.281G>A	11.37:g.99715587G>A	ENSP00000435637:p.Ser94Asn		99220797	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178209	0.21787	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.56776	0.44;0.5;0.5;0.5;0.5	5.33	5.33	0.75918	.	0.092578	0.85682	D	0.000000	T	0.39759	0.1090	N	0.19112	0.55	0.49389	D	0.99978	B;B;B	0.23128	0.048;0.08;0.015	B;B;B	0.23716	0.021;0.048;0.01	T	0.18903	-1.0322	10	0.15952	T	0.53	.	18.3699	0.90403	0.0:0.0:1.0:0.0	.	94;20;94	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	N	94;94;94;20;94	ENSP00000433575:S94N;ENSP00000436185:S94N;ENSP00000435637:S94N;ENSP00000393229:S20N;ENSP00000279463:S94N	ENSP00000279463:S94N	S	+	2	0	CNTN5	99220797	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.685000	0.46959	2.653000	0.90120	0.650000	0.86243	AGT		0.323	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		A	99715587	G	A	99715587	3	1	125	1	0	0	0	0	1	0	0	0	3644	1029	36	2	291	2	CNTN5	11	99715587	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	63204026	99715587	35290929	38	6855											
C11orf87	399947	broad.mit.edu	37	11	109294829	109294829	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr11:109294829C>G	ENST00000327419.6	+	2	873	c.470C>G	c.(469-471)cCg>cGg	p.P157R	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	157						integral component of membrane (GO:0016021)		p.P157R(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGGCCTCCCGTGCCAGGGT	0.672																																																1	Substitution - Missense(1)	ovary(1)	11											43	47	46					11																	109294829		2201	4296	6497	108800039	SO:0001583	missense	399947			AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.470C>G	11.37:g.109294829C>G	ENSP00000331581:p.Pro157Arg		108800039	B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	C	3.883	-0.025515	0.07589	.	.	ENSG00000185742	ENST00000327419	.	.	.	3.7	1.7	0.24286	.	0.117442	0.31601	U	0.007380	T	0.14743	0.0356	N	0.08118	0	0.21933	N	0.999467	B	0.22983	0.078	B	0.23275	0.045	T	0.11665	-1.0578	9	0.54805	T	0.06	-2.6201	1.527	0.02527	0.2459:0.4406:0.1849:0.1286	.	157	Q6NUJ2	CK087_HUMAN	R	157	.	ENSP00000331581:P157R	P	+	2	0	C11orf87	108800039	0.116000	0.22171	0.926000	0.36857	0.972000	0.66771	-0.299000	0.08254	0.469000	0.27268	0.655000	0.94253	CCG		0.672	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		G	109294829	C	G	109294829	3	3	125	1	0	0	0	0	1	0	0	0	1669	652	23	3	472	3	C11orf87	11	109294829	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	9579242	109294829	25711687	39	6856											
STYK1	55359	broad.mit.edu	37	12	10775266	10775266	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr12:10775266C>A	ENST00000075503.3	-	9	1458	c.938G>T	c.(937-939)gGg>gTg	p.G313V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G313V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GAGCAGGATCCCAAAAGACCA	0.383										HNSCC(73;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											146	137	140					12																	10775266		2203	4300	6503	10666533	SO:0001583	missense	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.938G>T	12.37:g.10775266C>A	ENSP00000075503:p.Gly313Val		10666533	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910224	0.72983	.	.	ENSG00000060140	ENST00000075503	D	0.93906	-3.31	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.98153	0.9390	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99253	1.0888	10	0.87932	D	0	-16.8521	14.6237	0.68605	0.0:1.0:0.0:0.0	.	313	Q6J9G0	STYK1_HUMAN	V	313	ENSP00000075503:G313V	ENSP00000075503:G313V	G	-	2	0	STYK1	10666533	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.656000	0.61483	2.503000	0.84419	0.650000	0.86243	GGG		0.383	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		A	10775266	C	A	10775266	3	1	125	1	0	0	0	0	1	0	0	0	15361	623	22	3	342	3	STYK1	12	10775266	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08		10775266	123076629	40	6857											
CASC1	55259	broad.mit.edu	37	12	25297493	25297493	+	Missense_Mutation	SNP	G	G	A	rs369607694		TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr12:25297493G>A	ENST00000320267.9	-	8	871	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.H152Y|CASC1_ENST00000354189.5_Missense_Mutation_p.H328Y|CASC1_ENST00000395987.3_Missense_Mutation_p.H270Y|CASC1_ENST00000545133.1_Missense_Mutation_p.H205Y|CASC1_ENST00000395990.2_Missense_Mutation_p.H224Y	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	264								p.H270Y(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GAAACAGGGTGCAGTGCAGAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											194	177	182					12																	25297493		2203	4300	6503	25188760	SO:0001583	missense	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.790C>T	12.37:g.25297493G>A	ENSP00000313141:p.His264Tyr		25188760	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.831554	0.00584	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133	T;T;T;T;T	0.43688	0.94;1.55;1.55;0.97;0.97	4.53	-9.05	0.00730	Casc1 domain (1);	3.469510	0.00397	N	0.000056	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.33904	-0.9850	10	0.02654	T	1	23.2443	1.3321	0.02137	0.2059:0.2479:0.1225:0.4237	.	152;205;328;264;270	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	Y	328;270;264;224;152;270;205	ENSP00000346126:H328Y;ENSP00000379310:H270Y;ENSP00000313141:H264Y;ENSP00000379313:H224Y;ENSP00000437373:H205Y	ENSP00000313141:H264Y	H	-	1	0	CASC1	25188760	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.227000	0.02950	-3.599000	0.00134	0.643000	0.83706	CAC		0.403	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		A	25297493	G	A	25297493	3	1	125	1	0	0	0	0	1	0	0	0	2660	1319	46	2	1392	2	CASC1	12	25297493	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08	14522227	25297493	108554402	41	6858											
TMEM132D	121256	broad.mit.edu	37	12	129566316	129566316	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr12:129566316C>T	ENST00000422113.2	-	7	2237	c.1911G>A	c.(1909-1911)atG>atA	p.M637I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M175I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	637					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.M637I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAATGGTGGTCATCCCAAGCT	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											41	40	40					12																	129566316		2203	4299	6502	128132269	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1911G>A	12.37:g.129566316C>T	ENSP00000408581:p.Met637Ile		128132269	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	6.136	0.393256	0.11638	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13196	2.61;2.61	4.53	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.51422	1.61	0.42232	D	0.991894	B;B	0.28584	0.041;0.216	B;B	0.27887	0.011;0.084	T	0.04454	-1.0950	9	.	.	.	-63.2651	14.3573	0.66745	0.0:0.8504:0.1496:0.0	.	637;175	Q14C87;Q14C87-2	T132D_HUMAN;.	I	175;637	ENSP00000374092:M175I;ENSP00000408581:M637I	.	M	-	3	0	TMEM132D	128132269	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	1.103000	0.31062	0.851000	0.35264	0.561000	0.74099	ATG		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129566316	C	T	129566316	3	4	125	1	0	0	0	0	1	0	0	0	16047	826	29	2	1400	2	TMEM132D	12	129566316	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	104268823	129566316	4285579	42	6859											
RPGRIP1	57096	broad.mit.edu	37	14	21785911	21785911	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr14:21785911C>A	ENST00000400017.2	+	10	1208	c.1208C>A	c.(1207-1209)gCg>gAg	p.A403E	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.A403E|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.A45E|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.A376E|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.A376E	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	403					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.A19E(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGCTCATAGCGGAACAGCTA	0.542																																																1	Substitution - Missense(1)	ovary(1)	14											27	27	27					14																	21785911		1989	4164	6153	20855751	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1208C>A	14.37:g.21785911C>A	ENSP00000382895:p.Ala403Glu		20855751	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.536105	0.00143	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	T;T;T;T;T	0.70164	0.4;-0.43;-0.46;-0.46;0.13	4.44	-1.19	0.09585	.	0.651851	0.15129	N	0.278925	T	0.26448	0.0646	N	0.02802	-0.49	0.09310	N	0.999999	P;P;B	0.41748	0.761;0.53;0.357	B;B;B	0.35413	0.202;0.198;0.071	T	0.46707	-0.9172	10	0.02654	T	1	-0.0669	4.1201	0.10101	0.0993:0.4767:0.2744:0.1495	.	45;19;403	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	E	376;376;403;403;45;45	ENSP00000450445:A376E;ENSP00000451219:A376E;ENSP00000382895:A403E;ENSP00000206660:A403E;ENSP00000372391:A45E	ENSP00000206660:A403E	A	+	2	0	RPGRIP1	20855751	0.000000	0.05858	0.004000	0.12327	0.101000	0.19017	-0.241000	0.08940	-0.094000	0.12374	-1.465000	0.01017	GCG		0.542	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		A	21785911	C	A	21785911	3	1	125	1	0	0	0	0	1	0	0	0	13552	768	27	3	1246	3	RPGRIP1	14	21785911	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08		21785911	85563629	43	6860											
DACT1	51339	broad.mit.edu	37	14	59112483	59112483	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr14:59112483C>T	ENST00000335867.4	+	4	1166	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L	DACT1_ENST00000556859.1_Missense_Mutation_p.P100L|DACT1_ENST00000541264.2_Missense_Mutation_p.P100L|DACT1_ENST00000395153.3_Missense_Mutation_p.P344L			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	381					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.P381L(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTCAGAGCCCCGGGCGGTGTC	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											58	63	61					14																	59112483		2203	4300	6503	58182236	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1142C>T	14.37:g.59112483C>T	ENSP00000337439:p.Pro381Leu		58182236	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	7.522	0.656940	0.14580	.	.	ENSG00000165617	ENST00000556859;ENST00000421793;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.46	4.57	0.56435	.	0.854545	0.10717	N	0.642183	T	0.24967	0.0606	N	0.12887	0.27	0.09310	N	0.999991	P;P	0.37330	0.59;0.59	B;B	0.30855	0.121;0.084	T	0.05386	-1.0888	10	0.22109	T	0.4	0.5645	14.1646	0.65469	0.0:0.9278:0.0:0.0722	.	344;381	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	L	100;100;100;344;381;100	ENSP00000451598:P100L;ENSP00000404297:P100L;ENSP00000378581:P100L;ENSP00000378582:P344L;ENSP00000337439:P381L;ENSP00000442850:P100L	ENSP00000337439:P381L	P	+	2	0	DACT1	58182236	0.156000	0.22821	0.002000	0.10522	0.044000	0.14063	2.855000	0.48333	1.324000	0.45282	0.563000	0.77884	CCG		0.537	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		T	59112483	C	T	59112483	3	4	125	1	0	0	0	0	1	0	0	0	4222	652	23	1	1156	1	DACT1	14	59112483	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	37326572	59112483	48237057	44	6861											
THBS1	7057	broad.mit.edu	37	15	39880771	39880771	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr15:39880771G>C	ENST00000260356.5	+	10	1681	c.1516G>C	c.(1516-1518)Gtc>Ctc	p.V506L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	506	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.V506L(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCTGTTCTGTCACCTGTGG	0.498																																																1	Substitution - Missense(1)	ovary(1)	15											81	79	80					15																	39880771		2200	4297	6497	37668063	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1516G>C	15.37:g.39880771G>C	ENSP00000260356:p.Val506Leu		37668063	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524903	0.64747	.	.	ENSG00000137801	ENST00000260356	T	0.64438	-0.1	5.87	5.87	0.94306	.	0.000000	0.32802	N	0.005635	T	0.62466	0.2430	M	0.61703	1.905	0.45594	D	0.998534	B	0.02656	0.0	B	0.04013	0.001	T	0.56183	-0.8021	10	0.24483	T	0.36	-37.1278	20.1976	0.98245	0.0:0.0:1.0:0.0	.	506	P07996	TSP1_HUMAN	L	506	ENSP00000260356:V506L	ENSP00000260356:V506L	V	+	1	0	THBS1	37668063	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.621000	0.54210	2.772000	0.95346	0.655000	0.94253	GTC		0.498	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		C	39880771	G	C	39880771	3	2	125	1	0	0	0	0	1	0	0	0	15853	1377	48	3	1550	3	THBS1	15	39880771	Missense_Mutation	SNP	G	TCGA-13-1410-01A-01W-0492-08		39880771	62650621	45	6862											
TP53	7157	broad.mit.edu	37	17	7578541	7578542	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	-	-	GG	GG	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr17:7578541_7578542insGG	ENST00000269305.4	-	5	577_578	c.388_389insCC	c.(388-390)ctcfs	p.L130fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.L130fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.L130fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L130fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L130fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L130fs	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	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L130F(16)|p.L130V(11)|p.0?(8)|p.L130R(7)|p.Y126_K132delYSPALNK(6)|p.L130H(3)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.N131fs*27(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.P13fs*18(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.L130del(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)	CATCTTGTTGAGGGCAGGGGAG	0.554		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"	78	Substitution - Missense(41)|Deletion - In frame(14)|Deletion - Frameshift(10)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	large_intestine(11)|breast(11)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|central_nervous_system(6)|lung(6)|ovary(6)|urinary_tract(4)|oesophagus(4)|prostate(4)|bone(4)|adrenal_gland(2)|stomach(2)|liver(2)|biliary_tract(1)|endometrium(1)|skin(1)	17																																								7519267	SO:0001589	frameshift_variant	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.387_388dupCC	17.37:g.7578542_7578543dupGG	ENSP00000269305:p.Leu130fs		7519266	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		GG	7578542	-	GG	7578541	7	5	125	1	0	1	1	0	0	0	0	0	16381	304	11	0	909	0	TP53	17	7578541	Frame_Shift_Ins	INS	-	TCGA-13-1410-01A-01W-0492-08		7578541	73616669	46	6863											
MYH8	4626	broad.mit.edu	37	17	10302910	10302910	+	Missense_Mutation	SNP	C	C	T	rs536291125		TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr17:10302910C>T	ENST00000403437.2	-	28	3906	c.3812G>A	c.(3811-3813)cGg>cAg	p.R1271Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1271					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1271Q(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTGATCAGCCGCTGCTGCTC	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	1	0.000199681	0	0	5008	,	,		17183	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	17											140	129	133					17																	10302910		2203	4300	6503	10243635	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3812G>A	17.37:g.10302910C>T	ENSP00000384330:p.Arg1271Gln		10243635	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	35	5.584790	0.96578	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83673	-1.75	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.38548	U	0.001656	D	0.84275	0.5436	M	0.78637	2.42	0.54753	D	0.99998	P	0.39883	0.693	B	0.38458	0.274	D	0.84164	0.0430	10	0.37606	T	0.19	.	19.317	0.94218	0.0:1.0:0.0:0.0	.	1271	P13535	MYH8_HUMAN	Q	1271	ENSP00000384330:R1271Q	ENSP00000252173:R1271Q	R	-	2	0	MYH8	10243635	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.573000	0.82421	2.806000	0.96561	0.655000	0.94253	CGG		0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10302910	C	T	10302910	3	4	125	1	0	0	0	0	1	0	0	0	10041	652	23	1	2053	1	MYH8	17	10302910	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	2724369	10302910	70892300	47	6864											
TRIM16	10626	broad.mit.edu	37	17	15535020	15535020	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr17:15535020C>A	ENST00000578237.1	-	10	1879	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	TRIM16_ENST00000577886.1_Missense_Mutation_p.D126Y|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.D342Y|TRIM16_ENST00000416464.2_Missense_Mutation_p.D212Y|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.D342Y			O95361	TRI16_HUMAN	tripartite motif containing 16	342					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)	p.D342Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GTTCTGATGTCATACTCCTCT	0.493																																																1	Substitution - Missense(1)	ovary(1)	17											123	103	110					17																	15535020		2203	4300	6503	15475745	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1024G>T	17.37:g.15535020C>A	ENSP00000463188:p.Asp342Tyr		15475745	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.55|10.55	1.382675|1.382675	0.25031|0.25031	.|.	.|.	ENSG00000221926|ENSG00000251537	ENST00000336708;ENST00000416464|ENST00000455584	T;T|.	0.68181|.	-0.08;-0.31|.	4.61|4.61	2.58|2.58	0.30949|0.30949	.|.	0.204224|.	0.40728|.	N|.	0.001031|.	T|T	0.44953|0.44953	0.1318|0.1318	L|L	0.44542|0.44542	1.39|1.39	0.32820|0.32820	D|D	0.502673|0.502673	P;P;P|.	0.51653|.	0.947;0.906;0.94|.	P;P;P|.	0.50231|.	0.556;0.459;0.635|.	T|T	0.54118|0.54118	-0.8341|-0.8341	10|5	0.45353|.	T|.	0.12|.	.|.	9.4925|9.4925	0.38969|0.38969	0.0:0.8101:0.0:0.1899|0.0:0.8101:0.0:0.1899	.|.	212;342;356|.	B3KP96;O95361;Q59EB2|.	.;TRI16_HUMAN;.|.	Y|I	342;212|356	ENSP00000338989:D342Y;ENSP00000399918:D212Y|.	ENSP00000338989:D342Y|.	D|M	-|-	1|3	0|0	TRIM16|RP11-385D13.1	15475745|15475745	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.923000|1.923000	0.40055|0.40055	1.061000|1.061000	0.40601|0.40601	0.555000|0.555000	0.69702|0.69702	GAC|ATG		0.493	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		A	15535020	C	A	15535020	3	1	125	1	0	0	0	0	1	0	0	0	16491	826	29	3	678	3	TRIM16	17	15535020	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	5232110	15535020	65660190	48	6865											
NSF	4905	broad.mit.edu	37	17	44828913	44828913	+	Silent	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr17:44828913G>A	ENST00000398238.4	+	19	2195	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	NSF_ENST00000225282.8_Silent_p.Q602Q|NSF_ENST00000575068.1_Silent_p.Q691Q	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	696					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)	p.Q696Q(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		CAATTGCACAGCAAGTCAAAG	0.403																																					Ovarian(25;472 742 1472 36813 50223)											1	Substitution - coding silent(1)	ovary(1)	17											111	104	106					17																	44828913		1922	4131	6053	42184080	SO:0001819	synonymous_variant	4905				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"ATPases / AAA-type"	8016	protein-coding gene	gene with protein product	"N-ethylmaleimide-sensitive factor-like protein"	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.2088G>A	17.37:g.44828913G>A			42184080	A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	ENST00000398238.4	37	CCDS42354.1																																																																																				0.403	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		A	44828913	G	A	44828913	2	1	125	1	0	0	0	0	0	0	0	1	10671	962	34	2		2	NSF	17	44828913	Silent	SNP	G	TCGA-13-1410-01A-01W-0492-08	29293893	44828913	36366297	49	6866											
THOC1	9984	broad.mit.edu	37	18	223447	223447	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr18:223447C>G	ENST00000261600.6	-	17	1370	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	455					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.E455Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGCCTTGTCTCTGATTTACAG	0.358																																																1	Substitution - Missense(1)	ovary(1)	18											62	56	58					18																	223447		1821	4078	5899	213447	SO:0001583	missense	9984			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1363G>C	18.37:g.223447C>G	ENSP00000261600:p.Glu455Gln		213447	B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930292	0.73327	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.43	5.43	0.79202	.	0.153404	0.64402	D	0.000017	T	0.60196	0.2250	L	0.52364	1.645	0.80722	D	1	P	0.42584	0.784	P	0.45829	0.494	T	0.55134	-0.8188	9	0.25106	T	0.35	-3.8444	19.254	0.93938	0.0:1.0:0.0:0.0	.	455	Q96FV9	THOC1_HUMAN	Q	455	.	ENSP00000261600:E455Q	E	-	1	0	THOC1	213447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.135000	0.77276	2.538000	0.85594	0.655000	0.94253	GAG		0.358	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		G	223447	C	G	223447	3	3	125	1	0	0	0	0	1	0	0	0	15864	922	32	3	630	3	THOC1	18	223447	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08		223447	77853801	50	6867											
DSG4	147409	broad.mit.edu	37	18	28968372	28968372	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr18:28968372A>T	ENST00000308128.4	+	4	394	c.259A>T	c.(259-261)Att>Ttt	p.I87F	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.I87F|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I87F(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AACATACCGGATTTCTGGAGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	18											111	98	102					18																	28968372		2203	4299	6502	27222370	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.259A>T	18.37:g.28968372A>T	ENSP00000311859:p.Ile87Phe		27222370	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.369993	0.42003	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.59083	0.29;0.29	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.35378	N	0.003256	T	0.79100	0.4389	M	0.87900	2.915	0.42532	D	0.993043	D;P	0.76494	0.999;0.933	D;P	0.97110	1.0;0.838	D	0.83371	0.0007	10	0.87932	D	0	.	14.5944	0.68395	1.0:0.0:0.0:0.0	.	87;87	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	F	87	ENSP00000311859:I87F;ENSP00000352785:I87F	ENSP00000311859:I87F	I	+	1	0	DSG4	27222370	1.000000	0.71417	0.993000	0.49108	0.080000	0.17528	3.702000	0.54800	2.184000	0.69523	0.528000	0.53228	ATT		0.408	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28968372	A	T	28968372	3	4	125	1	0	0	0	0	1	0	0	0	4779	333	12	5	273	5	DSG4	18	28968372	Missense_Mutation	SNP	A	TCGA-13-1410-01A-01W-0492-08	28744925	28968372	49108876	51	6868											
TSHZ3	57616	broad.mit.edu	37	19	31768452	31768452	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr19:31768452C>T	ENST00000240587.4	-	2	2574	c.2247G>A	c.(2245-2247)atG>atA	p.M749I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	749					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M566I(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTTGAAAAGCATGCTCATGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											60	62	61					19																	31768452		2203	4300	6503	36460292	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2247G>A	19.37:g.31768452C>T	ENSP00000240587:p.Met749Ile		36460292	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457511	0.84317	.	.	ENSG00000121297	ENST00000240587	T	0.42900	0.96	5.37	5.37	0.77165	.	0.038250	0.85682	D	0.000000	T	0.62696	0.2449	M	0.70595	2.14	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.60944	-0.7162	10	0.44086	T	0.13	-33.5602	19.1085	0.93307	0.0:1.0:0.0:0.0	.	749	Q63HK5	TSH3_HUMAN	I	749	ENSP00000240587:M749I	ENSP00000240587:M749I	M	-	3	0	TSHZ3	36460292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.501000	0.84356	0.655000	0.94253	ATG		0.602	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31768452	C	T	31768452	3	4	125	1	0	0	0	0	1	0	0	0	16625	710	25	2	1002	2	TSHZ3	19	31768452	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08		31768452	27360531	52	6869											
ZNF274	10782	broad.mit.edu	37	19	58724491	58724491	+	Silent	SNP	G	G	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr19:58724491G>A	ENST00000326804.4	+	9	2400	c.1941G>A	c.(1939-1941)aaG>aaA	p.K647K	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.K615K|ZNF274_ENST00000424679.2_Silent_p.K542K	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	648					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K615K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGCGAAAGAAGAAACAGCCTA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	19											46	47	47					19																	58724491		2027	4225	6252	63416303	SO:0001819	synonymous_variant	10782			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1941G>A	19.37:g.58724491G>A			63416303	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37																																																																																					0.493	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		A	58724491	G	A	58724491	2	1	125	1	0	0	0	0	0	0	0	1	17809	933	33	2		2	ZNF274	19	58724491	Silent	SNP	G	TCGA-13-1410-01A-01W-0492-08	26956039	58724491	404492	53	6870											
C20orf26	26074	broad.mit.edu	37	20	20232314	20232314	+	Silent	SNP	C	C	T	rs370294355		TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr20:20232314C>T	ENST00000245957.5	+	20	2311	c.2235C>T	c.(2233-2235)acC>acT	p.T745T	C20orf26_ENST00000377293.1_Silent_p.T101T|C20orf26_ENST00000389656.3_Silent_p.T101T|C20orf26_ENST00000377309.2_Silent_p.T101T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		745								p.T745T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTAGAATGACCGGCATAGACC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	20											196	164	175					20																	20232314		2203	4300	6503	20180314	SO:0001819	synonymous_variant	26074																														ENST00000245957.5:c.2235C>T	20.37:g.20232314C>T			20180314	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	CCDS33447.1																																																																																				0.527	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			T	20232314	C	T	20232314	2	4	125	1	0	0	0	0	0	0	0	1	2106	639	23	1		1	C20orf26	20	20232314	Silent	SNP	C	TCGA-13-1410-01A-01W-0492-08		20232314	42793206	54	6871											
GTSE1	51512	broad.mit.edu	37	22	46709817	46709817	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chr22:46709817C>T	ENST00000454366.1	+	6	1170	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	301					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.P301S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTTAAAAGCACCCGGCTCTAC	0.517											OREG0026653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(153;542 1915 12487 29016 50495)											1	Substitution - Missense(1)	ovary(1)	22											76	80	79					22																	46709817		2203	4300	6503	45088481	SO:0001583	missense	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.958C>T	22.37:g.46709817C>T	ENSP00000415430:p.Pro320Ser	941	45088481	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	16.76	3.210977	0.58343	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.19938	2.11	4.42	3.39	0.38822	.	0.379479	0.29159	N	0.012963	T	0.24353	0.0590	L	0.47190	1.495	0.09310	N	1	D	0.56287	0.975	P	0.48795	0.59	T	0.06023	-1.0850	10	0.66056	D	0.02	-16.9978	9.9781	0.41797	0.2014:0.7986:0.0:0.0	.	301	Q9NYZ3	GTSE1_HUMAN	S	320;280	ENSP00000415430:P320S	ENSP00000354634:P280S	P	+	1	0	GTSE1	45088481	0.002000	0.14202	0.018000	0.16275	0.163000	0.22366	0.372000	0.20467	1.434000	0.47414	0.655000	0.94253	CCC		0.517	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		T	46709817	C	T	46709817	3	4	125	1	0	0	0	0	1	0	0	0	6885	507	18	2	976	2	GTSE1	22	46709817	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08		46709817	4594749	55	6872											
MAGEB16	139604	broad.mit.edu	37	X	35820780	35820780	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chrX:35820780T>G	ENST00000399989.1	+	2	746	c.467T>G	c.(466-468)cTg>cGg	p.L156R	MAGEB16_ENST00000399988.1_Missense_Mutation_p.L156R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.L156R|MAGEB16_ENST00000399985.1_Missense_Mutation_p.L156R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.L188R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	156	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L323R(1)|p.L323Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGATCCTCCTGAGAGCTTCT	0.468																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	X											82	80	80					X																	35820780		2040	4177	6217	35730701	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.467T>G	X.37:g.35820780T>G	ENSP00000382871:p.Leu156Arg		35730701	A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	T	0.154	-1.088258	0.01873	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	2.91	-3.71	0.04424	.	1.151770	0.06335	N	0.706920	T	0.01320	0.0043	N	0.01140	-0.99	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.42916	-0.9423	10	0.05351	T	0.99	.	3.7445	0.08542	0.596:0.1302:0.0:0.2738	.	156	A2A368	MAGBG_HUMAN	R	156;188;156;156;156	ENSP00000382870:L156R;ENSP00000382874:L188R;ENSP00000382869:L156R;ENSP00000382871:L156R;ENSP00000382867:L156R	ENSP00000382867:L156R	L	+	2	0	MAGEB16	35730701	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.267000	0.08619	-0.885000	0.03971	0.423000	0.28283	CTG		0.468	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			G	35820780	T	G	35820780	3	3	125	1	0	0	0	0	1	0	0	0	9174	1580	55	5	469	5	MAGEB16	23	35820780	Missense_Mutation	SNP	T	TCGA-13-1410-01A-01W-0492-08		35820780	119449780	56	6873											
IL1RAPL2	26280	broad.mit.edu	37	X	104440384	104440384	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chrX:104440384C>A	ENST00000372582.1	+	3	1066	c.310C>A	c.(310-312)Cac>Aac	p.H104N	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.H104N	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	104	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.H104N(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATATGGTTTCACTCAGCTGA	0.428																																																1	Substitution - Missense(1)	ovary(1)	X											106	87	93					X																	104440384		2203	4300	6503	104327040	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.310C>A	X.37:g.104440384C>A	ENSP00000361663:p.His104Asn		104327040	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432641	0.62844	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.11821	2.74;2.74	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	T	0.12774	0.0310	N	0.14661	0.345	0.80722	D	1	P	0.38280	0.625	B	0.43754	0.43	T	0.26780	-1.0093	10	0.24483	T	0.36	.	17.2402	0.87011	0.0:1.0:0.0:0.0	.	104	Q9NP60	IRPL2_HUMAN	N	104	ENSP00000361663:H104N;ENSP00000344976:H104N	ENSP00000344976:H104N	H	+	1	0	IL1RAPL2	104327040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.607000	0.54102	2.282000	0.76494	0.600000	0.82982	CAC		0.428	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		A	104440384	C	A	104440384	3	1	125	1	0	0	0	0	1	0	0	0	7662	826	29	3	316	3	IL1RAPL2	23	104440384	Missense_Mutation	SNP	C	TCGA-13-1410-01A-01W-0492-08	68619604	104440384	50830176	57	6874											
ZBTB33	10009	broad.mit.edu	37	X	119388045	119388045	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1410-01A-01W-0492-08	TCGA-13-1410-10A-01W-0493-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	34c8982a-5404-44de-ac4c-3055da585c02	0dd4d2e1-db90-4440-8a60-fd7071ea5d16	g.chrX:119388045A>G	ENST00000326624.2	+	2	1003	c.775A>G	c.(775-777)Agc>Ggc	p.S259G	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S259G	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	259					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)	p.S259G(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCAACTTTGAGCCAAACACA	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											92	85	88					X																	119388045		2203	4300	6503	119272073	SO:0001583	missense	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.775A>G	X.37:g.119388045A>G	ENSP00000314153:p.Ser259Gly		119272073	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736776	0.30774	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.11712	2.75;2.75	5.67	5.67	0.87782	.	0.427525	0.27866	N	0.017540	T	0.11707	0.0285	L	0.44542	1.39	0.41778	D	0.989805	B	0.29162	0.235	B	0.29077	0.098	T	0.10314	-1.0635	10	0.30854	T	0.27	-1.8266	14.1924	0.65646	1.0:0.0:0.0:0.0	.	259	Q86T24	KAISO_HUMAN	G	259	ENSP00000314153:S259G;ENSP00000450969:S259G	ENSP00000314153:S259G	S	+	1	0	ZBTB33;AC002086.1	119272073	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	3.514000	0.53422	2.018000	0.59344	0.486000	0.48141	AGC		0.403	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		G	119388045	A	G	119388045	3	3	125	1	0	0	0	0	1	0	0	0	17536	304	11	4	777	4	ZBTB33	23	119388045	Missense_Mutation	SNP	A	TCGA-13-1410-01A-01W-0492-08	14947661	119388045	35882515	58	6875											
NEGR1	257194	genome.wustl.edu	37	1	72076726	72076726	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr1:72076726C>A	ENST00000357731.5	-	5	1010	c.771G>T	c.(769-771)tgG>tgT	p.W257C	NEGR1_ENST00000434200.1_Missense_Mutation_p.W211C|NEGR1_ENST00000306821.3_Missense_Mutation_p.W129C	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	257	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.W257C(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTCCTTTGTACCATTCAAAGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											118	120	119					1																	72076726		2203	4300	6503	71849314	SO:0001583	missense	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.771G>T	1.37:g.72076726C>A	ENSP00000350364:p.Trp257Cys		71849314	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064284	0.76187	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	D;D;D	0.96300	-3.97;-3.97;-3.97	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99133	1.0853	10	0.87932	D	0	-5.8913	19.4154	0.94694	0.0:1.0:0.0:0.0	.	211;257	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	C	257;129;211	ENSP00000350364:W257C;ENSP00000305938:W129C;ENSP00000413294:W211C	ENSP00000305938:W129C	W	-	3	0	NEGR1	71849314	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.028000	0.70889	2.884000	0.98904	0.655000	0.94253	TGG		0.458	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		A	72076726	C	A	72076726	3	1	126	1	0	0	0	0	1	0	0	0	10317	508	18	3	305	3	NEGR1	1	72076726	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09		72076726	177173895	1	6876											
LPPR5	163404	genome.wustl.edu	37	1	99380399	99380399	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr1:99380399C>T	ENST00000263177.4	-	5	1097	c.876G>A	c.(874-876)atG>atA	p.M292I	LPPR5_ENST00000370188.3_Missense_Mutation_p.M292I	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		292						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.M292I(1)									TGATCATTGGCATCTGTGCCA	0.358																																																1	Substitution - Missense(1)	ovary(1)	1											167	158	161					1																	99380399		2203	4300	6503	99152987	SO:0001583	missense	163404																														ENST00000263177.4:c.876G>A	1.37:g.99380399C>T	ENSP00000263177:p.Met292Ile		99152987	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418646	0.42918	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.29655	1.56;1.56	5.98	5.98	0.97165	.	0.316334	0.34025	N	0.004325	T	0.11537	0.0281	N	0.19112	0.55	0.36951	D	0.892877	B;B	0.13594	0.008;0.002	B;B	0.15052	0.012;0.002	T	0.10660	-1.0620	10	0.15499	T	0.54	.	19.4463	0.94849	0.0:1.0:0.0:0.0	.	292;292	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	I	292	ENSP00000359207:M292I;ENSP00000263177:M292I	ENSP00000263177:M292I	M	-	3	0	AL161744.1	99152987	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.555000	0.53727	2.835000	0.97688	0.650000	0.86243	ATG		0.358	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			T	99380399	C	T	99380399	3	4	126	1	0	0	0	0	1	0	0	0	8928	710	25	2	97	2	LPPR5	1	99380399	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09	27303673	99380399	149870222	2	6877											
SLC25A24	29957	genome.wustl.edu	37	1	108697655	108697655	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr1:108697655C>T	ENST00000565488.1	-	6	991	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	SLC25A24_ENST00000370041.4_Missense_Mutation_p.V239I	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	258					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.V239I(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ATTTTGATGACGTTTGTACCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											128	120	123					1																	108697655		2203	4300	6503	108499178	SO:0001583	missense	29957			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.772G>A	1.37:g.108697655C>T	ENSP00000457733:p.Val258Ile		108499178	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815631	0.90790	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.78924	-1.22	5.4	5.4	0.78164	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	L	0.53617	1.68	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.59487	0.858;0.778	T	0.80741	-0.1247	10	0.48119	T	0.1	-20.2275	18.1686	0.89737	0.0:1.0:0.0:0.0	.	258;239	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	I	258;239	ENSP00000359058:V239I	ENSP00000264128:V258I	V	-	1	0	SLC25A24	108499178	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.747000	0.85070	2.522000	0.85027	0.484000	0.47621	GTC		0.403	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		T	108697655	C	T	108697655	3	4	126	1	0	0	0	0	1	0	0	0	14490	536	19	1	681	1	SLC25A24	1	108697655	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09	9317256	108697655	140552966	3	6878											
USH2A	7399	genome.wustl.edu	37	1	216040513	216040513	+	Splice_Site	SNP	C	C	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr1:216040513C>A	ENST00000307340.3	-	44	9068		c.e44-1		USH2A_ENST00000366943.2_Splice_Site	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.?(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTTGTAAACCTAAAATGTTG	0.338										HNSCC(13;0.011)																																						1	Unknown(1)	ovary(1)	1											52	52	52					1																	216040513		2203	4300	6503	214107136	SO:0001630	splice_region_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8682-1G>T	1.37:g.216040513C>A			214107136	Q5VVM9|Q6S362|Q9NS27	Splice_Site	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740320	0.49045	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0206	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USH2A	214107136	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	5.677000	0.68142	2.745000	0.94114	0.557000	0.71058	.		0.338	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Intron	A	216040513	C	A	216040513	5	1	126	1	0	0	0	0	0	0	1	0	17036	695	24	3	7043	3	USH2A	1	216040513	Splice_Site	SNP	C	TCGA-13-1411-01A-01W-0494-09	107342858	216040513	33210108	4	6879											
LYST	1130	genome.wustl.edu	37	1	235897870	235897870	+	Silent	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr1:235897870C>T	ENST00000389794.3	-	32	8622	c.8448G>A	c.(8446-8448)ctG>ctA	p.L2816L	LYST_ENST00000389793.2_Silent_p.L2816L|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2816					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.L2816L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATTCATAAGCAGTTCTGCTG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	1											237	205	216					1																	235897870		2203	4300	6503	233964493	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8448G>A	1.37:g.235897870C>T			233964493	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																				0.383	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235897870	C	T	235897870	2	4	126	1	0	0	0	0	0	0	0	1	9128	697	25	2		2	LYST	1	235897870	Silent	SNP	C	TCGA-13-1411-01A-01W-0494-09	19857357	235897870	13352751	5	6880											
PUM2	23369	genome.wustl.edu	37	2	20508295	20508295	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr2:20508295A>G	ENST00000361078.2	-	5	591	c.569T>C	c.(568-570)tTg>tCg	p.L190S	PUM2_ENST00000536417.1_Missense_Mutation_p.L134S|PUM2_ENST00000338086.5_Missense_Mutation_p.L190S|PUM2_ENST00000403432.1_Missense_Mutation_p.L190S|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000319801.5_Missense_Mutation_p.L190S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	190	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.L190S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGGGGCCCAAGCGCTCAAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											58	62	61					2																	20508295		2203	4300	6503	20371776	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.569T>C	2.37:g.20508295A>G	ENSP00000354370:p.Leu190Ser		20371776	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	A	26.7	4.758330	0.89843	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.19105	2.22;2.49;2.45;2.17;2.22;2.21	6.07	6.07	0.98685	.	0.131998	0.64402	D	0.000017	T	0.27967	0.0689	L	0.46157	1.445	0.51767	D	0.999931	B;P;P	0.41313	0.325;0.745;0.609	B;B;P	0.44860	0.275;0.425;0.462	T	0.00829	-1.1549	10	0.44086	T	0.13	-3.8478	16.6277	0.84984	1.0:0.0:0.0:0.0	.	134;190;190	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	S	190;190;190;81;190;134;190	ENSP00000338173:L190S;ENSP00000354370:L190S;ENSP00000326746:L190S;ENSP00000409905:L81S;ENSP00000385992:L190S;ENSP00000440093:L134S	ENSP00000326746:L190S	L	-	2	0	PUM2	20371776	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.109000	0.94291	2.330000	0.79161	0.528000	0.53228	TTG		0.398	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		G	20508295	A	G	20508295	3	3	126	1	0	0	0	0	1	0	0	0	12829	131	5	4	2689	4	PUM2	2	20508295	Missense_Mutation	SNP	A	TCGA-13-1411-01A-01W-0494-09		20508295	222691078	6	6881											
TBC1D8	11138	genome.wustl.edu	37	2	101656711	101656711	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr2:101656711C>T	ENST00000376840.4	-	6	963	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	TBC1D8_ENST00000409318.1_Missense_Mutation_p.A337T			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	322	GRAM 2.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.A337T(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTGTCAGAGGCGAACATCCGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	2											69	73	72					2																	101656711		2042	4188	6230	101023143	SO:0001583	missense	11138			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.964G>A	2.37:g.101656711C>T	ENSP00000366036:p.Ala322Thr		101023143	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583712	0.28268	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	D;D	0.86769	-2.17;-2.17	5.86	-7.1	0.01547	GRAM (2);	0.503517	0.20539	N	0.090356	T	0.66247	0.2770	N	0.08118	0	0.09310	N	0.999995	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.52586	-0.8556	10	0.41790	T	0.15	-9.2577	8.092	0.30805	0.1779:0.4128:0.0:0.4093	.	337;322	B7Z6L4;O95759	.;TBCD8_HUMAN	T	322;337	ENSP00000366036:A322T;ENSP00000386856:A337T	ENSP00000366036:A322T	A	-	1	0	TBC1D8	101023143	0.000000	0.05858	0.054000	0.19295	0.601000	0.36947	-0.415000	0.07106	-1.140000	0.02877	-1.147000	0.01851	GCC		0.577	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		T	101656711	C	T	101656711	3	4	126	1	0	0	0	0	1	0	0	0	15625	768	27	1	2518	1	TBC1D8	2	101656711	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09	81148416	101656711	141542662	7	6882											
GPR45	11250	genome.wustl.edu	37	2	105859168	105859168	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr2:105859168G>A	ENST00000258456.1	+	1	969	c.853G>A	c.(853-855)Gtc>Atc	p.V285I		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V285I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCCCCACTCCGTCTACAGCCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	2											177	170	173					2																	105859168		2203	4300	6503	105225600	SO:0001583	missense	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.853G>A	2.37:g.105859168G>A	ENSP00000258456:p.Val285Ile		105225600	Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.044509	0.00398	.	.	ENSG00000135973	ENST00000258456	T	0.69435	-0.4	4.25	0.384	0.16244	GPCR, rhodopsin-like superfamily (1);	0.229694	0.35151	N	0.003405	T	0.40719	0.1128	N	0.11818	0.18	0.45015	D	0.998034	B	0.15930	0.015	B	0.14578	0.011	T	0.21724	-1.0237	10	0.07482	T	0.82	-33.0518	11.1903	0.48681	0.2609:0.0:0.7391:0.0	.	285	Q9Y5Y3	GPR45_HUMAN	I	285	ENSP00000258456:V285I	ENSP00000258456:V285I	V	+	1	0	GPR45	105225600	0.992000	0.36948	0.309000	0.25155	0.250000	0.25880	2.231000	0.43009	0.182000	0.20032	-1.327000	0.01280	GTC		0.582	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		A	105859168	G	A	105859168	3	1	126	1	0	0	0	0	1	0	0	0	6696	1145	40	1	855	1	GPR45	2	105859168	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09	4202457	105859168	137340205	8	6883											
NR4A2	4929	genome.wustl.edu	37	2	157186267	157186267	+	Silent	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr2:157186267G>A	ENST00000339562.4	-	3	794	c.432C>T	c.(430-432)gaC>gaT	p.D144D	NR4A2_ENST00000426264.1_Silent_p.D81D|NR4A2_ENST00000409108.2_Silent_p.D144D|NR4A2_ENST00000409572.1_Silent_p.D144D|NR4A2_ENST00000429376.1_Silent_p.D81D|NR4A2_ENST00000539077.1_Silent_p.D155D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	144	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D144D(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ATCCCGGGTCGTCCCACATGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	2											74	87	83					2																	157186267		2203	4300	6503	156894513	SO:0001819	synonymous_variant	4929			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.432C>T	2.37:g.157186267G>A			156894513	Q16311|Q53RZ2|Q6NXU0	Silent	SNP	ENST00000339562.4	37	CCDS2201.1																																																																																				0.627	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			A	157186267	G	A	157186267	2	1	126	1	0	0	0	0	0	0	0	1	10633	1136	40	1		1	NR4A2	2	157186267	Silent	SNP	G	TCGA-13-1411-01A-01W-0494-09	51327099	157186267	86013106	9	6884											
B3GALT1	8708	genome.wustl.edu	37	2	168725675	168725675	+	Silent	SNP	A	A	G			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr2:168725675A>G	ENST00000392690.3	+	1	218	c.126A>G	c.(124-126)acA>acG	p.T42T	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Silent_p.T42T			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	42					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.T42T(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GCCACCTAACAGTTGCCAGGA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	2											112	111	111					2																	168725675		2203	4300	6503	168433921	SO:0001819	synonymous_variant	8708			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"Beta 3-glycosyltransferases"	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.126A>G	2.37:g.168725675A>G			168433921	D3DPB8|Q53SS2	Silent	SNP	ENST00000392690.3	37	CCDS2227.1																																																																																				0.433	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		G	168725675	A	G	168725675	2	3	126	1	0	0	0	0	0	0	0	1	1247	175	7	4		4	B3GALT1	2	168725675	Silent	SNP	A	TCGA-13-1411-01A-01W-0494-09	11539408	168725675	74473698	10	6885											
CERKL	375298	genome.wustl.edu	37	2	182521671	182521671	+	Silent	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr2:182521671C>T	ENST00000339098.5	-	1	62	c.63G>A	c.(61-63)gcG>gcA	p.A21A	CERKL_ENST00000410087.3_Silent_p.A21A|CERKL_ENST00000374970.2_Silent_p.A21A|CERKL_ENST00000374969.2_Silent_p.A21A|CERKL_ENST00000479558.1_Intron|CERKL_ENST00000409440.3_Silent_p.A21A			Q49MI3	CERKL_HUMAN	ceramide kinase-like	21					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.A21A(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCTCCGGGGGCGCCTCTTCCT	0.741																																																1	Substitution - coding silent(1)	ovary(1)	2											9	13	12					2																	182521671		2168	4245	6413	182229916	SO:0001819	synonymous_variant	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.63G>A	2.37:g.182521671C>T			182229916	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Silent	SNP	ENST00000339098.5	37	CCDS42789.1																																																																																				0.741	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			T	182521671	C	T	182521671	2	4	126	1	0	0	0	0	0	0	0	1	3268	755	27	1		1	CERKL	2	182521671	Silent	SNP	C	TCGA-13-1411-01A-01W-0494-09	13795996	182521671	60677702	11	6886											
PPARG	5468	genome.wustl.edu	37	3	12458478	12458478	+	Silent	SNP	T	T	C			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr3:12458478T>C	ENST00000287820.6	+	6	1216	c.1095T>C	c.(1093-1095)gaT>gaC	p.D365D	PPARG_ENST00000397010.2_Silent_p.D337D|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397026.2_Silent_p.D343D|PPARG_ENST00000309576.6_Silent_p.D337D|PPARG_ENST00000397012.2_Silent_p.D337D|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Silent_p.D337D	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	365	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D365D(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TGAATAAAGATGGGGTTCTCA	0.443			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	1	Substitution - coding silent(1)	ovary(1)	3											58	56	57					3																	12458478		2203	4300	6503	12433478	SO:0001819	synonymous_variant	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1095T>C	3.37:g.12458478T>C			12433478	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	ENST00000287820.6	37	CCDS2609.1																																																																																				0.443	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		C	12458478	T	C	12458478	2	2	126	1	0	0	0	0	0	0	0	1	12299	1461	51	4		4	PPARG	3	12458478	Silent	SNP	T	TCGA-13-1411-01A-01W-0494-09		12458478	185563952	12	6887											
ACAA1	30	genome.wustl.edu	37	3	38175457	38175457	+	Silent	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr3:38175457G>A	ENST00000333167.8	-	3	481	c.309C>T	c.(307-309)atC>atT	p.I103I	ACAA1_ENST00000480865.1_5'Flank|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000301810.7_Silent_p.I103I|ACAA1_ENST00000450296.1_Silent_p.I103I|ACAA1_ENST00000444607.2_Silent_p.I103I	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	103					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.I103I(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAAACTGGGCGATTCGGGCCA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	3											67	69	68					3																	38175457		2203	4300	6503	38150461	SO:0001819	synonymous_variant	30			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.309C>T	3.37:g.38175457G>A			38150461	G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972719	0.34848	.	.	ENSG00000060971	ENST00000421218	.	.	.	5.58	-5.2	0.02823	.	.	.	.	.	T	0.65873	0.2733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66674	-0.5864	4	.	.	.	-21.0765	17.161	0.86803	0.8191:0.0:0.1809:0.0	.	.	.	.	L	26	.	.	S	-	2	0	ACAA1	38150461	0.000000	0.05858	0.306000	0.25113	0.989000	0.77384	-1.996000	0.01471	-1.152000	0.02832	-0.140000	0.14226	TCG		0.537	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		A	38175457	G	A	38175457	2	1	126	1	0	0	0	0	0	0	0	1	104	1048	37	1		1	ACAA1	3	38175457	Silent	SNP	G	TCGA-13-1411-01A-01W-0494-09	25716979	38175457	159846973	13	6888											
CBLB	868	genome.wustl.edu	37	3	105397360	105397360	+	Silent	SNP	T	T	G			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr3:105397360T>G	ENST00000264122.4	-	17	2805	c.2484A>C	c.(2482-2484)gcA>gcC	p.A828A	CBLB_ENST00000394027.3_Silent_p.A806A|CBLB_ENST00000407712.1_Silent_p.A43A	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	828	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A828A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GACTATGCCTTGCAGGAGGTG	0.488			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	1	Substitution - coding silent(1)	ovary(1)	3											69	68	68					3																	105397360		2203	4300	6503	106880050	SO:0001819	synonymous_variant	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2484A>C	3.37:g.105397360T>G			106880050	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	CCDS2948.1																																																																																				0.488	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		G	105397360	T	G	105397360	2	3	126	1	0	0	0	0	0	0	0	1	2701	1799	63	5		5	CBLB	3	105397360	Silent	SNP	T	TCGA-13-1411-01A-01W-0494-09	67221903	105397360	92625070	14	6889											
SNX4	8723	genome.wustl.edu	37	3	125195602	125195602	+	Splice_Site	SNP	T	T	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr3:125195602T>A	ENST00000251775.4	-	8	751		c.e8-2		SNX4_ENST00000473417.1_Splice_Site|SNX4_ENST00000536067.1_Splice_Site	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4						endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.?(1)		breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGCTACTCTCTGAAATAAATA	0.284																																																1	Unknown(1)	ovary(1)	3											46	48	47					3																	125195602		2202	4292	6494	126678292	SO:0001630	splice_region_variant	8723			AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"Sorting nexins"	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.727-2A>T	3.37:g.125195602T>A			126678292	B3KMH0|B4DQV4|D3DNA3	Splice_Site	SNP	ENST00000251775.4	37	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435300	0.62955	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.938	0.47257	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX4	126678292	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.879000	0.63100	1.834000	0.53371	0.455000	0.32223	.		0.284	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794	Intron	A	125195602	T	A	125195602	5	1	126	1	0	0	0	0	0	0	1	0	14907	1594	55	5	655	5	SNX4	3	125195602	Splice_Site	SNP	T	TCGA-13-1411-01A-01W-0494-09	19798242	125195602	72826828	15	6890											
MTRR	4552	genome.wustl.edu	37	5	7885939	7885940	+	Nonsense_Mutation	DNP	GA	GA	AT			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	GA	GA	GA	AT	GA	GA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr5:7885939_7885940GA>AT	ENST00000264668.2	+	7	1140_1141	c.1110_1111GA>AT	c.(1108-1113)ttGAaa>ttATaa	p.K371*	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Nonsense_Mutation_p.K344*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	371	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GCGTCCTTTTGAAAATAAAGGC	0.495																																																0			5																																								7938940	SO:0001587	stop_gained	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	Exception_encountered	5.37:g.7885939_7885940delinsAT	ENSP00000264668:p.Lys371*		7938939	O60471|Q32MA9|Q7Z4M8	Nonsense_Mutation	DNP	ENST00000264668.2	37	CCDS3874.1																																																																																				0.495	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			AT	7885940	GA	AT	7885939	4	1	126	1	0	0	0	0	0	1	0	0	9961	1281	45	2	1136	2	MTRR	5	7885939	Nonsense_Mutation	DNP	GA	TCGA-13-1411-01A-01W-0494-09		7885939	173029321	16	6891											
PRDM9	56979	genome.wustl.edu	37	5	23509610	23509610	+	Missense_Mutation	SNP	A	A	G	rs571933768		TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr5:23509610A>G	ENST00000296682.3	+	3	283	c.101A>G	c.(100-102)tAc>tGc	p.Y34C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	34	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Y34C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATTTCCATATACTTCACCAAG	0.413										HNSCC(3;0.000094)																																						1	Substitution - Missense(1)	ovary(1)	5											203	190	194					5																	23509610		1858	4116	5974	23545367	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.101A>G	5.37:g.23509610A>G	ENSP00000296682:p.Tyr34Cys		23545367	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.632911	0.47049	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.01871	4.59;4.59	2.76	2.76	0.32466	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.09512	0.0234	M	0.73217	2.22	0.27274	N	0.958286	D	0.89917	1.0	D	0.87578	0.998	T	0.05468	-1.0883	9	0.72032	D	0.01	-4.1354	7.3251	0.26551	1.0:0.0:0.0:0.0	.	34	Q9NQV7	PRDM9_HUMAN	C	34	ENSP00000425471:Y34C;ENSP00000296682:Y34C	ENSP00000296682:Y34C	Y	+	2	0	PRDM9	23545367	0.977000	0.34250	0.997000	0.53966	0.927000	0.56198	2.457000	0.45005	1.498000	0.48600	0.496000	0.49642	TAC		0.413	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		G	23509610	A	G	23509610	3	3	126	1	0	0	0	0	1	0	0	0	12466	391	14	4	107	4	PRDM9	5	23509610	Missense_Mutation	SNP	A	TCGA-13-1411-01A-01W-0494-09	15623671	23509610	157405650	17	6892											
MGC42105	167359	genome.wustl.edu	37	5	43246058	43246058	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr5:43246058G>T	ENST00000512796.1	+	2	1680	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	NIM1_ENST00000326035.2_Missense_Mutation_p.V61L			Q8IY84	NIM1_HUMAN		61					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.V61L(1)									GGATGAGAAGGTGGTGAGGGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	5											108	102	104					5																	43246058		2203	4300	6503	43281815	SO:0001583	missense	167359																														ENST00000512796.1:c.181G>T	5.37:g.43246058G>T	ENSP00000420849:p.Val61Leu		43281815	B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462779	0.63513	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.71579	-0.58;-0.58	5.59	5.59	0.84812	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.63885	0.2549	L	0.51422	1.61	0.54753	D	0.999982	B	0.11235	0.004	B	0.11329	0.006	T	0.57670	-0.7771	9	.	.	.	.	12.8826	0.58026	0.074:0.0:0.926:0.0	.	61	Q8IY84	NIM1_HUMAN	L	61	ENSP00000313572:V61L;ENSP00000420849:V61L	.	V	+	1	0	AC114947.1	43281815	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.725000	0.68507	2.640000	0.89533	0.650000	0.86243	GTG		0.562	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			T	43246058	G	T	43246058	3	4	126	1	0	0	0	0	1	0	0	0	9552	1261	44	3	183	3	MGC42105	5	43246058	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09	19736448	43246058	137669202	18	6893											
CCNH	902	genome.wustl.edu	37	5	86690284	86690284	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr5:86690284G>C	ENST00000256897.4	-	9	1175	c.951C>G	c.(949-951)gaC>gaG	p.D317E	CCNH_ENST00000504878.1_Missense_Mutation_p.D243E|CCNH_ENST00000508855.1_3'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	317					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)	p.D317E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CTACCAGGTCGTCATCAGTCC	0.343								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	5											99	97	98					5																	86690284		2203	4300	6503	86726040	SO:0001583	missense	902			U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"General transcription factor IIH complex subunits"	1594	protein-coding gene	gene with protein product	"CDK-activating kinase complex subunit", "cyclin-dependent kinase-activating kinase complex subunit", "MO15-associated protein", "CAK complex subunit"	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.951C>G	5.37:g.86690284G>C	ENSP00000256897:p.Asp317Glu		86726040	Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	G	4.546	0.101423	0.08731	.	.	ENSG00000134480	ENST00000256897;ENST00000504878	T;T	0.42900	0.96;0.96	5.17	-1.14	0.09741	.	0.590158	0.19205	N	0.120065	T	0.11965	0.0291	N	0.02158	-0.66	0.29585	N	0.848867	B	0.10296	0.003	B	0.09377	0.004	T	0.28681	-1.0036	10	0.10377	T	0.69	-5.5263	4.9598	0.14061	0.5119:0.0:0.2821:0.206	.	317	P51946	CCNH_HUMAN	E	317;243	ENSP00000256897:D317E;ENSP00000426075:D243E	ENSP00000256897:D317E	D	-	3	2	CCNH	86726040	0.007000	0.16637	0.989000	0.46669	0.952000	0.60782	-1.454000	0.02381	-0.139000	0.11414	-0.302000	0.09304	GAC		0.343	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		C	86690284	G	C	86690284	3	2	126	1	0	0	0	0	1	0	0	0	2925	1136	40	3	24	3	CCNH	5	86690284	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09	43444226	86690284	94224976	19	6894											
C6orf89	221477	genome.wustl.edu	37	6	36887353	36887353	+	Splice_Site	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr6:36887353G>A	ENST00000480824.2	+	8	1119		c.e8-1		C6orf89_ENST00000359359.2_Splice_Site|C6orf89_ENST00000373685.1_Splice_Site|C6orf89_ENST00000355190.3_Splice_Site|C6orf89_ENST00000510325.2_Splice_Site			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89						epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CTTTCCTCCAGATGCATAAGA	0.463																																																1	Unknown(1)	ovary(1)	6											113	109	110					6																	36887353		2203	4300	6503	36995331	SO:0001630	splice_region_variant	221477			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.826-1G>A	6.37:g.36887353G>A			36995331	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Splice_Site	SNP	ENST00000480824.2	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.217199	0.79352	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf89	36995331	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.411000	0.59781	2.941000	0.99782	0.655000	0.94253	.		0.463	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734	Intron	A	36887353	G	A	36887353	5	1	126	1	0	0	0	0	0	0	1	0	2373	956	33	2	872	2	C6orf89	6	36887353	Splice_Site	SNP	G	TCGA-13-1411-01A-01W-0494-09		36887353	134227714	20	6895											
GPRC6A	222545	genome.wustl.edu	37	6	117121828	117121828	+	Silent	SNP	A	A	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr6:117121828A>T	ENST00000310357.3	-	4	1488	c.1467T>A	c.(1465-1467)acT>acA	p.T489T	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Silent_p.T314T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	489					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T489T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTGCCATCTTAGTGACAGTCA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	6											216	188	197					6																	117121828		2203	4300	6503	117228521	SO:0001819	synonymous_variant	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1467T>A	6.37:g.117121828A>T			117228521	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																				0.403	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			T	117121828	A	T	117121828	2	4	126	1	0	0	0	0	0	0	0	1	6728	407	15	5		5	GPRC6A	6	117121828	Silent	SNP	A	TCGA-13-1411-01A-01W-0494-09	80234475	117121828	53993239	21	6896											
KDELR2	11014	genome.wustl.edu	37	7	6509280	6509280	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr7:6509280C>T	ENST00000258739.4	-	3	482	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000490996.1_Missense_Mutation_p.V100I|KDELR2_ENST00000463747.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	100					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)	p.V100I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCCACAGGGACCACCAGAAAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											107	107	107					7																	6509280		2203	4300	6503	6475805	SO:0001583	missense	11014			X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.298G>A	7.37:g.6509280C>T	ENSP00000258739:p.Val100Ile		6475805	A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	ENST00000258739.4	37	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520613	0.64747	.	.	ENSG00000136240	ENST00000258739;ENST00000490996	T	0.44881	0.91	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	N	0.10874	0.06	0.80722	D	1	B;B	0.27791	0.189;0.01	B;B	0.38683	0.279;0.042	T	0.10706	-1.0618	10	0.10377	T	0.69	-33.2673	20.0431	0.97598	0.0:1.0:0.0:0.0	.	100;100	P33947-2;P33947	.;ERD22_HUMAN	I	100	ENSP00000258739:V100I	ENSP00000258739:V100I	V	-	1	0	KDELR2	6475805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.730000	0.84881	2.811000	0.96726	0.557000	0.71058	GTC		0.473	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			T	6509280	C	T	6509280	3	4	126	1	0	0	0	0	1	0	0	0	8120	507	18	2	527	2	KDELR2	7	6509280	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09		6509280	152629383	22	6897											
PXDNL	137902	genome.wustl.edu	37	8	52252290	52252290	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr8:52252290C>G	ENST00000356297.4	-	21	4140	c.4040G>C	c.(4039-4041)gGt>gCt	p.G1347A	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1347					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.G1347A(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCATCTTCACCCACATATAT	0.343																																																1	Substitution - Missense(1)	ovary(1)	8											135	127	129					8																	52252290		1829	4073	5902	52414843	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4040G>C	8.37:g.52252290C>G	ENSP00000348645:p.Gly1347Ala		52414843	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.861|8.861	0.947024|0.947024	0.18356|0.18356	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297|ENST00000522933	T|.	0.62941|.	-0.01|.	5.0|5.0	-4.48|-4.48	0.03515|0.03515	.|.	.|.	.|.	.|.	.|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.16396|.	0.017|.	B|.	0.09377|.	0.004|.	T|T	0.32640|0.32640	-0.9899|-0.9899	9|5	0.09338|.	T|.	0.73|.	.|.	7.1905|7.1905	0.25822|0.25822	0.0:0.5128:0.1493:0.3378|0.0:0.5128:0.1493:0.3378	.|.	1347|.	A1KZ92|.	PXDNL_HUMAN|.	A|L	1347|421	ENSP00000348645:G1347A|.	ENSP00000348645:G1347A|.	G|V	-|-	2|1	0|0	PXDNL|PXDNL	52414843|52414843	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.673000|0.673000	0.39480|0.39480	-0.074000|-0.074000	0.11450|0.11450	-0.656000|-0.656000	0.05380|0.05380	0.591000|0.591000	0.81541|0.81541	GGT|GTG		0.343	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		G	52252290	C	G	52252290	3	3	126	1	0	0	0	0	1	0	0	0	12851	507	18	3	363	3	PXDNL	8	52252290	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09		52252290	94111732	23	6898											
PHF20L1	51105	genome.wustl.edu	37	8	133851828	133851828	+	Splice_Site	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr8:133851828G>A	ENST00000395386.2	+	18	2686		c.e18+1		PHF20L1_ENST00000395390.2_Splice_Site|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Splice_Site|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAATACTAAAGTAAGTGAAGG	0.438																																																1	Unknown(1)	ovary(1)	8											83	75	77					8																	133851828		1905	4117	6022	133921010	SO:0001630	splice_region_variant	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2387+1G>A	8.37:g.133851828G>A			133921010	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Splice_Site	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922016	0.73213	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1918	0.89809	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF20L1	133921010	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	9.476000	0.97823	2.552000	0.86080	0.655000	0.94253	.		0.438	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	Intron	A	133851828	G	A	133851828	5	1	126	1	0	0	0	0	0	0	1	0	11832	1043	36	2	2550	2	PHF20L1	8	133851828	Splice_Site	SNP	G	TCGA-13-1411-01A-01W-0494-09	81599538	133851828	12512194	24	6899											
TLE4	7091	genome.wustl.edu	37	9	82319728	82319728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr9:82319728C>T	ENST00000376552.2	+	9	1658	c.640C>T	c.(640-642)Cga>Tga	p.R214*	TLE4_ENST00000376537.4_Nonsense_Mutation_p.R214*|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376520.4_Nonsense_Mutation_p.R214*|TLE4_ENST00000376544.3_Nonsense_Mutation_p.R214*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.R189*	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	214	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.R214*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGCCAGTTTCCGAGGTGCTGA	0.423																																																2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|ovary(1)	9											163	161	161					9																	82319728		1851	4100	5951	81509548	SO:0001587	stop_gained	7091			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.640C>T	9.37:g.82319728C>T	ENSP00000365735:p.Arg214*		81509548	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Nonsense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.318466|8.318466	0.98757|0.98757	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000496114|ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347;ENST00000467142	.|.	.|.	.|.	5.92|5.92	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.33411|.	0.0862|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16394|.	-1.0404|.	5|.	0.87932|0.02654	D|T	0|1	-11.1033|-11.1033	11.6575|11.6575	0.51325|0.51325	0.3797:0.6203:0.0:0.0|0.3797:0.6203:0.0:0.0	.|.	.|.	.|.	.|.	L|X	4|214;214;214;214;189;199;84;11	.|.	ENSP00000417715:P257L|ENSP00000265284:R189X	P|R	+|+	2|1	0|2	TLE4|TLE4	81509548|81509548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.321000|3.321000	0.51999|0.51999	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	CCG|CGA		0.423	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		T	82319728	C	T	82319728	4	4	126	1	0	0	0	0	0	1	0	0	15941	644	23	1	674	1	TLE4	9	82319728	Nonsense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09		82319728	58893703	25	6900											
RAD23B	5887	genome.wustl.edu	37	9	110081063	110081063	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr9:110081063C>T	ENST00000358015.3	+	6	935	c.584C>T	c.(583-585)aCt>aTt	p.T195I	RAD23B_ENST00000416373.2_Missense_Mutation_p.T123I	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	195	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)	p.T195I(1)		breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATATGGTAACTGAGATCATG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	9											143	137	139					9																	110081063		2203	4300	6503	109120884	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.584C>T	9.37:g.110081063C>T	ENSP00000350708:p.Thr195Ile		109120884	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485282	0.84854	.	.	ENSG00000119318	ENST00000358015;ENST00000374678;ENST00000416373	T;T	0.22134	1.97;1.97	4.87	4.87	0.63330	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.049352	0.85682	D	0.000000	T	0.49372	0.1553	M	0.82056	2.57	0.58432	D	0.999992	D;P;P	0.71674	0.998;0.823;0.888	D;P;P	0.67382	0.951;0.847;0.815	T	0.55309	-0.8161	10	0.62326	D	0.03	-16.4193	18.3721	0.90411	0.0:1.0:0.0:0.0	.	174;195;195	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	I	195;123;123	ENSP00000350708:T195I;ENSP00000405623:T123I	ENSP00000350708:T195I	T	+	2	0	RAD23B	109120884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.842000	0.55858	2.412000	0.81896	0.561000	0.74099	ACT		0.408	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		T	110081063	C	T	110081063	3	4	126	1	0	0	0	0	1	0	0	0	12986	565	20	2	606	2	RAD23B	9	110081063	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09	27761335	110081063	31132368	26	6901											
MTPAP	55149	genome.wustl.edu	37	10	30629242	30629242	+	Silent	SNP	C	C	T	rs547303023		TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr10:30629242C>T	ENST00000263063.4	-	3	511	c.468G>A	c.(466-468)caG>caA	p.Q156Q	MTPAP_ENST00000358107.4_Silent_p.Q286Q|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	156					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.Q156Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTTCAGAAGTCTGGTTTTTCA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	10											126	115	118					10																	30629242		2203	4300	6503	30669248	SO:0001819	synonymous_variant	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.468G>A	10.37:g.30629242C>T			30669248	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	37	CCDS7165.1																																																																																				0.428	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		T	30629242	C	T	30629242	2	4	126	1	0	0	0	0	0	0	0	1	9956	912	32	2		2	MTPAP	10	30629242	Silent	SNP	C	TCGA-13-1411-01A-01W-0494-09		30629242	104905505	27	6902											
OIT3	170392	genome.wustl.edu	37	10	74692131	74692131	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr10:74692131G>T	ENST00000334011.5	+	9	1705	c.1487G>T	c.(1486-1488)cGg>cTg	p.R496L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	496	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R496L(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTGCACTGCCGGGTTCTTGTC	0.527																																					Colon(7;19 345 13446 17537)											2	Substitution - Missense(2)	ovary(1)|lung(1)	10											135	143	140					10																	74692131		2203	4300	6503	74362137	SO:0001583	missense	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1487G>T	10.37:g.74692131G>T	ENSP00000333900:p.Arg496Leu		74362137	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574302	0.65878	.	.	ENSG00000138315	ENST00000334011	D	0.82255	-1.59	6.06	4.17	0.49024	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.258337	0.27397	N	0.019560	T	0.80417	0.4619	M	0.66939	2.045	0.50813	D	0.999896	B	0.29612	0.251	B	0.32211	0.142	T	0.77178	-0.2683	10	0.59425	D	0.04	-10.3452	8.5626	0.33520	0.2958:0.0:0.7042:0.0	.	496	Q8WWZ8	OIT3_HUMAN	L	496	ENSP00000333900:R496L	ENSP00000333900:R496L	R	+	2	0	OIT3	74362137	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	3.080000	0.50112	0.847000	0.35167	0.655000	0.94253	CGG		0.527	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		T	74692131	G	T	74692131	3	4	126	1	0	0	0	0	1	0	0	0	10849	1116	39	3	1521	3	OIT3	10	74692131	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09	44062889	74692131	60842616	28	6903											
LRRC4C	57689	genome.wustl.edu	37	11	40136105	40136105	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr11:40136105G>C	ENST00000278198.2	-	2	3701	c.1738C>G	c.(1738-1740)Ccc>Gcc	p.P580A	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P580A|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P580A|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P580A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	580					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.P580A(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTTCCATGGGTGTGTCTCCC	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											219	212	215					11																	40136105		2203	4300	6503	40092681	SO:0001583	missense	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1738C>G	11.37:g.40136105G>C	ENSP00000278198:p.Pro580Ala		40092681	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	1.720	-0.496791	0.04291	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	6.17	6.17	0.99709	.	0.055857	0.64402	D	0.000001	T	0.10294	0.0252	N	0.01048	-1.04	0.43107	D	0.994807	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	10	0.08381	T	0.77	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	580	Q9HCJ2	LRC4C_HUMAN	A	580	ENSP00000278198:P580A;ENSP00000436976:P580A;ENSP00000437132:P580A;ENSP00000434761:P580A	ENSP00000278198:P580A	P	-	1	0	LRRC4C	40092681	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	5.773000	0.68898	2.941000	0.99782	0.655000	0.94253	CCC		0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		C	40136105	G	C	40136105	3	2	126	1	0	0	0	0	1	0	0	0	9008	1261	44	3	188	3	LRRC4C	11	40136105	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09		40136105	94870411	29	6904											
SLC22A25	387601	genome.wustl.edu	37	11	62997119	62997119	+	Silent	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr11:62997119G>A	ENST00000306494.6	-	1	5	c.6C>T	c.(4-6)gcC>gcT	p.A2A	SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.A2A(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GGTCCTGAAAGGCCATTGAGG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	11											39	42	41					11																	62997119		2201	4298	6499	62753695	SO:0001819	synonymous_variant	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.6C>T	11.37:g.62997119G>A			62753695		Silent	SNP	ENST00000306494.6	37	CCDS31592.1																																																																																				0.413	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		A	62997119	G	A	62997119	2	1	126	1	0	0	0	0	0	0	0	1	14457	987	35	2		2	SLC22A25	11	62997119	Silent	SNP	G	TCGA-13-1411-01A-01W-0494-09	22861014	62997119	72009397	30	6905											
C12orf40	283461	genome.wustl.edu	37	12	40078683	40078683	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr12:40078683C>T	ENST00000324616.5	+	10	1455	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	C12orf40_ENST00000405531.3_Missense_Mutation_p.S434L	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	434								p.S434L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AATATACCTTCGGAAGAATTG	0.363																																																1	Substitution - Missense(1)	ovary(1)	12											119	114	115					12																	40078683		1838	4078	5916	38364950	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1301C>T	12.37:g.40078683C>T	ENSP00000317671:p.Ser434Leu		38364950	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.859581	0.00552	.	.	ENSG00000180116	ENST00000405531;ENST00000324616	T;T	0.34859	1.34;1.34	5.15	1.52	0.23074	.	0.742196	0.11596	N	0.548187	T	0.12944	0.0314	N	0.02247	-0.625	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.17167	-1.0378	10	0.11182	T	0.66	.	7.3814	0.26858	0.0:0.2695:0.0:0.7305	.	434	Q86WS4	CL040_HUMAN	L	434	ENSP00000383897:S434L;ENSP00000317671:S434L	ENSP00000317671:S434L	S	+	2	0	C12orf40	38364950	0.977000	0.34250	0.844000	0.33320	0.034000	0.12701	0.860000	0.27871	0.152000	0.19188	-0.302000	0.09304	TCG		0.363	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		T	40078683	C	T	40078683	3	4	126	1	0	0	0	0	1	0	0	0	1686	893	31	1	1339	1	C12orf40	12	40078683	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09		40078683	93773212	31	6906											
MTMR6	9107	genome.wustl.edu	37	13	25826045	25826045	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr13:25826045G>A	ENST00000381801.5	-	12	2185	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	MTMR6_ENST00000540661.1_Missense_Mutation_p.S475F	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	475	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.S475F(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTGAGATTCGGAACTGTAGAG	0.328																																																1	Substitution - Missense(1)	ovary(1)	13											116	132	127					13																	25826045		2203	4299	6502	24724045	SO:0001583	missense	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1424C>T	13.37:g.25826045G>A	ENSP00000371221:p.Ser475Phe		24724045	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680395	0.47886	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801;ENST00000319298	D;D	0.90444	-2.67;-2.67	5.51	5.51	0.81932	Myotubularin phosphatase domain (1);	0.315828	0.38959	N	0.001517	D	0.87617	0.6222	L	0.35644	1.08	0.51482	D	0.999926	B;B	0.26845	0.1;0.161	B;B	0.35039	0.148;0.194	D	0.85578	0.1238	10	0.59425	D	0.04	.	12.9901	0.58614	0.0:0.0:0.7174:0.2825	.	475;475	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	F	475;475;475;43	ENSP00000443161:S475F;ENSP00000371221:S475F	ENSP00000317987:S43F	S	-	2	0	MTMR6	24724045	0.883000	0.30277	0.447000	0.26932	0.876000	0.50452	3.735000	0.55044	2.578000	0.87016	0.585000	0.79938	TCC		0.328	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		A	25826045	G	A	25826045	3	1	126	1	0	0	0	0	1	0	0	0	9947	1174	41	2	453	2	MTMR6	13	25826045	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09		25826045	89343833	32	6907											
PCDH17	27253	genome.wustl.edu	37	13	58208327	58208327	+	Silent	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr13:58208327G>A	ENST00000377918.3	+	1	1673	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E549E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGCTTTTGAGTTCAAGGTGC	0.577																																					Melanoma(72;952 1291 1619 12849 33676)											1	Substitution - coding silent(1)	ovary(1)	13											43	44	44					13																	58208327		2203	4300	6503	57106328	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1647G>A	13.37:g.58208327G>A			57106328	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	CCDS31986.1																																																																																				0.577	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		A	58208327	G	A	58208327	2	1	126	1	0	0	0	0	0	0	0	1	11512	1020	36	2		2	PCDH17	13	58208327	Silent	SNP	G	TCGA-13-1411-01A-01W-0494-09	32382282	58208327	56961551	33	6908											
PCDH20	64881	genome.wustl.edu	37	13	61985959	61985959	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr13:61985959G>T	ENST00000409186.1	-	5	4378	c.2273C>A	c.(2272-2274)aCt>aAt	p.T758N	PCDH20_ENST00000409204.4_Missense_Mutation_p.T758N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	758	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T731N(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCCTGGCAGAGTAGAAGGCAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	13											86	92	90					13																	61985959		2203	4300	6503	60883960	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2273C>A	13.37:g.61985959G>T	ENSP00000386653:p.Thr758Asn		60883960	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822895	0.71028	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.43294	0.95;0.95	6.06	6.06	0.98353	.	0.174258	0.40554	N	0.001061	T	0.63861	0.2547	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62469	-0.6848	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	758	A8K1K9	.	N	758;758;504	ENSP00000387250:T758N;ENSP00000386653:T758N	ENSP00000351500:T504N	T	-	2	0	PCDH20	60883960	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.773000	0.98989	2.880000	0.98712	0.650000	0.86243	ACT		0.438	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		T	61985959	G	T	61985959	3	4	126	1	0	0	0	0	1	0	0	0	11515	1029	36	3	586	3	PCDH20	13	61985959	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09	3777632	61985959	53183919	34	6909											
DICER1	23405	genome.wustl.edu	37	14	95574680	95574680	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr14:95574680G>A	ENST00000526495.1	-	17	2708	c.2417C>T	c.(2416-2418)aCg>aTg	p.T806M	DICER1_ENST00000541352.1_Missense_Mutation_p.T806M|DICER1_ENST00000343455.3_Missense_Mutation_p.T806M|DICER1_ENST00000393063.1_Missense_Mutation_p.T806M|DICER1_ENST00000527414.1_Missense_Mutation_p.T806M|DICER1_ENST00000556045.1_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	806					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.T806M(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGGTTTGGCCGTCAGTATTCC	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	1	Substitution - Missense(1)	ovary(1)	14											163	157	159					14																	95574680		2203	4300	6503	94644433	SO:0001583	missense	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2417C>T	14.37:g.95574680G>A	ENSP00000437256:p.Thr806Met		94644433	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756865	0.89843	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89259	0.6664	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88569	0.3128	10	0.54805	T	0.06	-25.3484	20.0965	0.97849	0.0:0.0:1.0:0.0	.	806	Q9UPY3	DICER_HUMAN	M	806	ENSP00000343745:T806M;ENSP00000437256:T806M;ENSP00000376783:T806M;ENSP00000435681:T806M;ENSP00000444719:T806M	ENSP00000343745:T806M	T	-	2	0	DICER1	94644433	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.525000	0.98039	2.824000	0.97209	0.655000	0.94253	ACG		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			A	95574680	G	A	95574680	3	1	126	1	0	0	0	0	1	0	0	0	4521	1145	40	1	3403	1	DICER1	14	95574680	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09		95574680	11774860	35	6910											
SNRPN	6638	genome.wustl.edu	37	15	25223429	25223429	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr15:25223429C>G	ENST00000400100.1	+	12	1539	c.649C>G	c.(649-651)Cct>Gct	p.P217A	SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Missense_Mutation_p.P217A|SNRPN_ENST00000444203.2_Missense_Mutation_p.P221A|SNRPN_ENST00000400098.1_Missense_Mutation_p.P217A|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.P217A|SNRPN_ENST00000577565.1_Missense_Mutation_p.P217A|SNRPN_ENST00000390687.4_Missense_Mutation_p.P217A|SNRPN_ENST00000554227.2_Missense_Mutation_p.P221A|SNHG14_ENST00000551631.2_RNA	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	217	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.P217A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGGCATGCCGCCTCCGGGAAT	0.567									Prader-Willi syndrome																																							1	Substitution - Missense(1)	ovary(1)	15											125	124	124					15																	25223429		1898	4111	6009	22774522	SO:0001583	missense	6638	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.649C>G	15.37:g.25223429C>G	ENSP00000382972:p.Pro217Ala		22774522	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641091	0.29157	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.53857	0.73;0.73;0.73;0.6;0.73;0.6	3.83	1.95	0.26073	.	0.110120	0.64402	D	0.000005	T	0.37972	0.1023	L	0.38953	1.18	0.80722	D	1	B;B	0.32302	0.363;0.363	B;B	0.28916	0.096;0.096	T	0.29427	-1.0012	10	0.87932	D	0	-4.2165	8.1631	0.31211	0.0:0.795:0.0:0.2049	.	221;217	B3KVR1;P63162	.;RSMN_HUMAN	A	217;217;217;221;217;221;76	ENSP00000382972:P217A;ENSP00000382970:P217A;ENSP00000382969:P217A;ENSP00000452342:P221A;ENSP00000375105:P217A;ENSP00000408767:P221A	ENSP00000306223:P76A	P	+	1	0	SNRPN;SNURF	22774522	1.000000	0.71417	0.993000	0.49108	0.937000	0.57800	6.652000	0.74377	0.596000	0.29794	0.591000	0.81541	CCT		0.567	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		G	25223429	C	G	25223429	3	3	126	1	0	0	0	0	1	0	0	0	14873	739	26	3	671	3	SNRPN	15	25223429	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09		25223429	77307963	36	6911											
CYP1A2	1544	genome.wustl.edu	37	15	75047328	75047328	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr15:75047328C>A	ENST00000343932.4	+	7	1513	c.1450C>A	c.(1450-1452)Ccg>Acg	p.P484T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	484					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.P484T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	GTTCAGCGTGCCGCCGGGCGT	0.617																																																1	Substitution - Missense(1)	ovary(1)	15											86	71	76					15																	75047328		2197	4296	6493	72834381	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1450C>A	15.37:g.75047328C>A	ENSP00000342007:p.Pro484Thr		72834381	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.330745	0.01298	.	.	ENSG00000140505	ENST00000343932	T	0.68903	-0.36	4.39	2.42	0.29668	.	0.474372	0.25192	N	0.032445	T	0.61714	0.2369	M	0.87328	2.875	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.49986	-0.8880	10	0.13853	T	0.58	.	3.4535	0.07507	0.3025:0.4615:0.1473:0.0887	.	484	P05177-2	.	T	484	ENSP00000342007:P484T	ENSP00000342007:P484T	P	+	1	0	CYP1A2	72834381	0.000000	0.05858	0.273000	0.24645	0.161000	0.22273	-0.713000	0.05007	0.423000	0.26033	0.455000	0.32223	CCG		0.617	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75047328	C	A	75047328	3	1	126	1	0	0	0	0	1	0	0	0	4150	739	26	3	1472	3	CYP1A2	15	75047328	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09	49823899	75047328	27484064	37	6912											
TP53	7157	genome.wustl.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr17:7577108C>A	ENST00000269305.4	-	8	1019	c.830G>T	c.(829-831)tGt>tTt	p.C277F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000420246.2_Missense_Mutation_p.C277F	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	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCCCAGGACAGGCACAAAC	0.547		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"	61	Substitution - Missense(40)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Unknown(2)	lung(11)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|bone(6)|upper_aerodigestive_tract(5)|oesophagus(5)|stomach(4)|urinary_tract(4)|central_nervous_system(3)|skin(2)|cervix(1)|peritoneum(1)|large_intestine(1)|ovary(1)|prostate(1)|liver(1)	17											72	62	66					17																	7577108		2203	4300	6503	7517833	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.830G>T	17.37:g.7577108C>A	ENSP00000269305:p.Cys277Phe		7517833	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209345	0.79240	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.044315	0.85682	D	0.000000	D	0.99880	0.9943	M	0.91872	3.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.85130	0.982;0.997;0.99;0.986	D	0.96422	0.9312	10	0.87932	D	0	-10.0792	16.1198	0.81342	0.0:1.0:0.0:0.0	.	277;277;277;277	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	277;277;277;277;277;266;145	ENSP00000352610:C277F;ENSP00000269305:C277F;ENSP00000398846:C277F;ENSP00000391127:C277F;ENSP00000391478:C277F;ENSP00000425104:C145F	ENSP00000269305:C277F	C	-	2	0	TP53	7517833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.781000	0.68964	2.667000	0.90743	0.462000	0.41574	TGT		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577108	C	A	7577108	3	1	126	1	0	0	0	0	1	0	0	0	16381	478	17	3	456	3	TP53	17	7577108	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09		7577108	73618102	38	6913											
MYH13	8735	genome.wustl.edu	37	17	10212731	10212731	+	Silent	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr17:10212731G>A	ENST00000418404.3	-	34	5152	c.4989C>T	c.(4987-4989)gaC>gaT	p.D1663D	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.D1663D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1663					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D1663D(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCAGGGCGTCATCGAGAT	0.667																																																1	Substitution - coding silent(1)	ovary(1)	17											17	17	17					17																	10212731		2122	4245	6367	10153456	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4989C>T	17.37:g.10212731G>A			10153456	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.667	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10212731	G	A	10212731	2	1	126	1	0	0	0	0	0	0	0	1	10032	1136	40	1		1	MYH13	17	10212731	Silent	SNP	G	TCGA-13-1411-01A-01W-0494-09	2635623	10212731	70982479	39	6914											
ZNF208	7757	genome.wustl.edu	37	19	22157074	22157074	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr19:22157074C>A	ENST00000397126.4	-	4	910	c.762G>T	c.(760-762)gaG>gaT	p.E254D	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E254D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGATTTCTCTCCAGTAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	19											34	37	36					19																	22157074		2117	4256	6373	21948914	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.762G>T	19.37:g.22157074C>A	ENSP00000380315:p.Glu254Asp		21948914		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	7.277	0.608261	0.14002	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.26810	1.71	2.89	0.578	0.17391	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	B	0.26876	0.162	B	0.30179	0.112	T	0.29212	-1.0019	8	0.52906	T	0.07	.	3.6122	0.08065	0.1913:0.5722:0.0:0.2365	.	254	O43345	ZN208_HUMAN	D	254	ENSP00000380315:E254D	ENSP00000380315:E254D	E	-	3	2	ZNF208	21948914	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.799000	0.01746	-0.143000	0.11334	-0.699000	0.03677	GAG		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		A	22157074	C	A	22157074	3	1	126	1	0	0	0	0	1	0	0	0	17766	912	32	3	3084	3	ZNF208	19	22157074	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09		22157074	36971909	40	6915											
ZNF536	9745	genome.wustl.edu	37	19	31038887	31038887	+	Silent	SNP	C	C	T	rs200755943		TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr19:31038887C>T	ENST00000355537.3	+	4	2508	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	787					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.A787A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTGACTATGCCGGCACGCAGT	0.512													C|||	1	0.000199681	0	0.0014	5008	,	,		17925	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19											65	69	68					19																	31038887		2203	4300	6503	35730727	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2361C>T	19.37:g.31038887C>T			35730727	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.512	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	31038887	C	T	31038887	2	4	126	1	0	0	0	0	0	0	0	1	17974	639	23	1		1	ZNF536	19	31038887	Silent	SNP	C	TCGA-13-1411-01A-01W-0494-09	8881813	31038887	28090096	41	6916											
GRIN2D	2906	genome.wustl.edu	37	19	48922616	48922616	+	Splice_Site	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr19:48922616C>T	ENST00000263269.3	+	8	1949	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	621					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.R621C(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACGGGCAAGCGTGAGTCCCC	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											93	68	76					19																	48922616		2203	4300	6503	53614428	SO:0001630	splice_region_variant	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1861+1C>T	19.37:g.48922616C>T			53614428		Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143924	0.77888	.	.	ENSG00000105464	ENST00000263269	T	0.54279	0.58	4.38	4.38	0.52667	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.066061	0.56097	D	0.000025	T	0.66567	0.2802	L	0.49126	1.545	0.54753	D	0.999989	D	0.89917	1.0	D	0.70935	0.971	T	0.70026	-0.4985	10	0.72032	D	0.01	.	16.2406	0.82405	0.0:1.0:0.0:0.0	.	621	O15399	NMDE4_HUMAN	C	621	ENSP00000263269:R621C	ENSP00000263269:R621C	R	+	1	0	GRIN2D	53614428	0.684000	0.27642	1.000000	0.80357	0.979000	0.70002	0.781000	0.26774	2.447000	0.82792	0.643000	0.83706	CGC		0.592	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		Missense_Mutation	T	48922616	C	T	48922616	5	4	126	1	0	0	0	0	0	0	1	0	6782	782	27	1	1887	1	GRIN2D	19	48922616	Splice_Site	SNP	C	TCGA-13-1411-01A-01W-0494-09	17883729	48922616	10206367	42	6917											
LAIR1	3903	genome.wustl.edu	37	19	54871663	54871663	+	Silent	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr19:54871663C>T	ENST00000391742.2	-	4	533	c.381G>A	c.(379-381)ccG>ccA	p.P127P	LAIR1_ENST00000313038.6_Silent_p.P120P|LAIR1_ENST00000474878.1_Intron|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Intron|LAIR1_ENST00000434277.2_Silent_p.P126P|LAIR1_ENST00000391743.3_Silent_p.P109P			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	127					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P127P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCGGGGAGTCCGGGCCTCCAG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19											50	55	53					19																	54871663		2189	4297	6486	59563475	SO:0001819	synonymous_variant	3903			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.381G>A	19.37:g.54871663C>T			59563475		Silent	SNP	ENST00000391742.2	37	CCDS12891.1																																																																																				0.632	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			T	54871663	C	T	54871663	2	4	126	1	0	0	0	0	0	0	0	1	8602	639	23	1		1	LAIR1	19	54871663	Silent	SNP	C	TCGA-13-1411-01A-01W-0494-09	5949047	54871663	4257320	43	6918											
CSNK2A1	1457	genome.wustl.edu	37	20	478408	478408	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr20:478408A>G	ENST00000217244.3	-	7	758	c.383T>C	c.(382-384)tTa>tCa	p.L128S	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.L128S|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.L128S|CSNK2A1_ENST00000400217.2_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			L -> F (in Ref. 3; CAA49758). {ECO:0000305}.	axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.L128S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAGTCTGTTAACGTCTGGTA	0.318																																																1	Substitution - Missense(1)	ovary(1)	20											91	94	93					20																	478408		2203	4300	6503	426408	SO:0001583	missense	1457			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.383T>C	20.37:g.478408A>G	ENSP00000217244:p.Leu128Ser		426408	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424614	0.83667	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.71341	-0.56;-0.56;-0.56	5.46	5.46	0.80206	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	D	0.85362	0.5679	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87761	0.2598	10	0.87932	D	0	-3.8723	14.8606	0.70379	1.0:0.0:0.0:0.0	.	128	P68400	CSK21_HUMAN	S	128	ENSP00000383086:L128S;ENSP00000339247:L128S;ENSP00000217244:L128S	ENSP00000217244:L128S	L	-	2	0	CSNK2A1	426408	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.139000	0.94554	2.296000	0.77279	0.482000	0.46254	TTA		0.318	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		G	478408	A	G	478408	3	3	126	1	0	0	0	0	1	0	0	0	3957	372	13	4	824	4	CSNK2A1	20	478408	Missense_Mutation	SNP	A	TCGA-13-1411-01A-01W-0494-09		478408	62547112	44	6919											
SIRPB1	10326	genome.wustl.edu	37	20	1551592	1551592	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr20:1551592G>A	ENST00000381605.4	-	4	1007	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	315	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L315F(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TTCACCAGGAGCCAGCTCATC	0.542																																																1	Substitution - Missense(1)	ovary(1)	20											214	184	194					20																	1551592		2203	4300	6503	1499592	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.943C>T	20.37:g.1551592G>A	ENSP00000371018:p.Leu315Phe		1499592	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	7.925	0.739324	0.15642	.	.	ENSG00000101307	ENST00000381605	T	0.08984	3.03	2.51	-0.903	0.10534	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.532876	0.17189	N	0.183590	T	0.09379	0.0231	M	0.76574	2.34	0.80722	D	1	B	0.21309	0.054	B	0.26310	0.068	T	0.10941	-1.0608	10	0.42905	T	0.14	.	2.9901	0.05980	0.154:0.0:0.368:0.4779	.	315	O00241	SIRB1_HUMAN	F	315	ENSP00000371018:L315F	ENSP00000371018:L315F	L	-	1	0	SIRPB1	1499592	0.980000	0.34600	0.963000	0.40424	0.009000	0.06853	0.148000	0.16224	-0.031000	0.13781	-0.475000	0.04921	CTC		0.542	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		A	1551592	G	A	1551592	3	1	126	1	0	0	0	0	1	0	0	0	14336	971	34	2	261	2	SIRPB1	20	1551592	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09	1073184	1551592	61473928	45	6920											
CDH26	60437	genome.wustl.edu	37	20	58567484	58567484	+	Silent	SNP	C	C	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr20:58567484C>T	ENST00000244047.5	+	10	1646	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	CDH26_ENST00000348616.4_Silent_p.S445S			Q8IXH8	CAD26_HUMAN	cadherin 26	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S445S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACAAAAACTCCGGAGTGGTCA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	20											100	90	94					20																	58567484		2203	4300	6503	58000879	SO:0001819	synonymous_variant	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1335C>T	20.37:g.58567484C>T			58000879	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37		.	.	.	.	.	.	.	.	.	.	C	5.717	0.316858	0.10845	.	.	ENSG00000124215	ENST00000370991	.	.	.	4.98	-9.96	0.00443	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.41596	D	0.988824	.	.	.	.	.	.	T	0.41538	-0.9503	4	.	.	.	.	3.7045	0.08395	0.1203:0.0826:0.2631:0.5341	.	.	.	.	L	37	.	.	P	+	2	0	CDH26	58000879	0.013000	0.17824	0.000000	0.03702	0.005000	0.04900	-1.457000	0.02374	-2.092000	0.00857	-1.442000	0.01069	CCG		0.398	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		T	58567484	C	T	58567484	2	4	126	1	0	0	0	0	0	0	0	1	3110	639	23	1		1	CDH26	20	58567484	Silent	SNP	C	TCGA-13-1411-01A-01W-0494-09	57015892	58567484	4458036	46	6921											
CLTCL1	8218	genome.wustl.edu	37	22	19209499	19209499	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr22:19209499C>A	ENST00000263200.10	-	16	2608	c.2536G>T	c.(2536-2538)Gtg>Ttg	p.V846L	CLTCL1_ENST00000353891.5_Missense_Mutation_p.V846L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.V846L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	846	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.V846L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACTTCAGCCACCAACTCATCA	0.428			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - Missense(1)	ovary(1)	22											117	121	120					22																	19209499		1967	4146	6113	17589499	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2536G>T	22.37:g.19209499C>A	ENSP00000445677:p.Val846Leu		17589499	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631414	0.87660	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.29142	1.58;1.58;1.58	4.0	4.0	0.46444	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.65709	0.2717	M	0.94021	3.485	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.91635	0.999;0.998	T	0.77905	-0.2413	10	0.87932	D	0	-15.4641	16.2854	0.82717	0.0:1.0:0.0:0.0	.	846;846	P53675-2;P53675	.;CLH2_HUMAN	L	846	ENSP00000439662:V846L;ENSP00000445677:V846L;ENSP00000441158:V846L	ENSP00000445677:V846L	V	-	1	0	CLTCL1	17589499	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.923000	0.75817	2.071000	0.62044	0.563000	0.77884	GTG		0.428	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19209499	C	A	19209499	3	1	126	1	0	0	0	0	1	0	0	0	3567	507	18	3	2454	3	CLTCL1	22	19209499	Missense_Mutation	SNP	C	TCGA-13-1411-01A-01W-0494-09		19209499	32095067	47	6922											
SMARCB1	6598	genome.wustl.edu	37	22	24159112	24159112	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chr22:24159112G>A	ENST00000263121.7	+	6	980	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	SMARCB1_ENST00000407082.3_Missense_Mutation_p.V216I|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Missense_Mutation_p.V271I|SMARCB1_ENST00000407422.3_Missense_Mutation_p.V253I	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	262	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.V262I(1)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGACCAGCGCGTCATCATCAA	0.602			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	5	Unknown(3)|Substitution - Missense(1)|Deletion - Frameshift(1)	central_nervous_system(3)|ovary(1)|soft_tissue(1)	22											97	73	81					22																	24159112		2203	4300	6503	22489112	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.784G>A	22.37:g.24159112G>A	ENSP00000263121:p.Val262Ile		22489112	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452772	0.63290	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.77519	0.4142	L	0.31420	0.93	0.80722	D	1	D;D;D	0.59767	0.983;0.986;0.975	P;P;P	0.55055	0.767;0.742;0.742	T	0.74188	-0.3746	10	0.23891	T	0.37	-39.2253	17.8543	0.88758	0.0:0.0:1.0:0.0	.	271;253;262	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	I	271;262;253;216	ENSP00000340883:V271I;ENSP00000263121:V262I;ENSP00000383984:V253I;ENSP00000385226:V216I	ENSP00000263121:V262I	V	+	1	0	SMARCB1	22489112	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	9.744000	0.98853	2.546000	0.85860	0.585000	0.79938	GTC		0.602	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		A	24159112	G	A	24159112	3	1	126	1	0	0	0	0	1	0	0	0	14777	1145	40	1	806	1	SMARCB1	22	24159112	Missense_Mutation	SNP	G	TCGA-13-1411-01A-01W-0494-09	4949613	24159112	27145454	48	6923											
ASB12	142689	genome.wustl.edu	37	X	63445178	63445178	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chrX:63445178T>C	ENST00000396130.2	-	1	325	c.326A>G	c.(325-327)cAt>cGt	p.H109R	ASB12_ENST00000362002.2_Missense_Mutation_p.H118R|MTMR8_ENST00000453546.1_Missense_Mutation_p.H493R			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	109					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.H109R(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						ACAGTCCAGATGGCCATGACT	0.532																																																3	Whole gene deletion(2)|Substitution - Missense(1)	ovary(2)|large_intestine(1)	X											112	65	81					X																	63445178		2203	4300	6503	63361903	SO:0001583	missense	142689			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.326A>G	X.37:g.63445178T>C	ENSP00000379435:p.His109Arg		63361903	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37		.	.	.	.	.	.	.	.	.	.	T	15.11	2.737538	0.49045	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.65732	-0.17;-0.17;-0.17	4.0	4.0	0.46444	Ankyrin repeat-containing domain (4);	0.053700	0.85682	D	0.000000	T	0.47967	0.1474	L	0.33753	1.03	0.24345	N	0.994949	B;B	0.15719	0.014;0.005	B;B	0.19391	0.025;0.017	T	0.43702	-0.9375	10	0.56958	D	0.05	-10.0207	6.9421	0.24498	0.0:0.1136:0.0:0.8864	.	493;109	B4DQL0;Q8WXK4	.;ASB12_HUMAN	R	118;109;118;493	ENSP00000355195:H118R;ENSP00000379435:H109R;ENSP00000394003:H493R	ENSP00000354626:H118R	H	-	2	0	ASB12;MTMR8	63361903	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.485000	0.66850	1.595000	0.50050	0.381000	0.24937	CAT		0.532	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				C	63445178	T	C	63445178	3	2	126	1	0	0	0	0	1	0	0	0	1016	1464	51	4	611	4	ASB12	23	63445178	Missense_Mutation	SNP	T	TCGA-13-1411-01A-01W-0494-09		63445178	91825382	49	6924											
CYLC1	1538	genome.wustl.edu	37	X	83128243	83128243	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chrX:83128243A>T	ENST00000329312.4	+	4	564	c.527A>T	c.(526-528)aAa>aTa	p.K176I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	176					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K175I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAGAAGTCAAAATCCAGTTCA	0.313																																																1	Substitution - Missense(1)	ovary(1)	X											26	26	26					X																	83128243		2186	4254	6440	83014899	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.527A>T	X.37:g.83128243A>T	ENSP00000331556:p.Lys176Ile		83014899	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	11.02	1.517141	0.27123	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.51817	0.69	4.11	1.52	0.23074	.	.	.	.	.	T	0.34077	0.0885	L	0.42245	1.32	0.09310	N	1	P;P	0.37955	0.612;0.612	B;B	0.35470	0.203;0.203	T	0.20472	-1.0274	9	0.51188	T	0.08	0.022	3.8731	0.09045	0.5589:0.2225:0.0:0.2186	.	176;176	P35663;F5H4V5	CYLC1_HUMAN;.	I	176	ENSP00000331556:K176I	ENSP00000331556:K176I	K	+	2	0	CYLC1	83014899	0.739000	0.28196	0.001000	0.08648	0.002000	0.02628	1.684000	0.37649	0.178000	0.19917	0.486000	0.48141	AAA		0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		T	83128243	A	T	83128243	3	4	126	1	0	0	0	0	1	0	0	0	4141	14	1	5	541	5	CYLC1	23	83128243	Missense_Mutation	SNP	A	TCGA-13-1411-01A-01W-0494-09	19683065	83128243	72142317	50	6925											
PRRG3	79057	genome.wustl.edu	37	X	150869191	150869191	+	Missense_Mutation	SNP	A	A	T	rs138478062		TCGA-13-1411-01A-01W-0494-09	TCGA-13-1411-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	e254d7f4-1edf-4054-9ca6-9fe058a05484	315fa173-8011-466c-abbc-72c2044a6835	g.chrX:150869191A>T	ENST00000370353.3	+	4	772	c.382A>T	c.(382-384)Acc>Tcc	p.T128S	PRRG3_ENST00000538575.1_Missense_Mutation_p.T128S|PRRG3_ENST00000370354.1_3'UTR			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	128						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.T128S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCGGGCACACCCTCCCCCG	0.652																																																1	Substitution - Missense(1)	ovary(1)	X											65	67	66					X																	150869191		2203	4300	6503	150619847	SO:0001583	missense	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.382A>T	X.37:g.150869191A>T	ENSP00000359378:p.Thr128Ser		150619847	A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	A	4.279	0.050960	0.08243	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.97941	-4.62;-4.62	4.65	4.65	0.58169	.	0.470429	0.21916	N	0.067230	D	0.87775	0.6262	N	0.00926	-1.1	0.20821	N	0.999845	B	0.02656	0.0	B	0.01281	0.0	T	0.76979	-0.2758	10	0.02654	T	1	-9.7802	9.7924	0.40715	1.0:0.0:0.0:0.0	.	128	Q9BZD7	TMG3_HUMAN	S	128	ENSP00000440217:T128S;ENSP00000359378:T128S	ENSP00000359378:T128S	T	+	1	0	PRRG3	150619847	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.015000	0.64035	1.646000	0.50622	0.430000	0.28490	ACC		0.652	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		T	150869191	A	T	150869191	3	4	126	1	0	0	0	0	1	0	0	0	12610	159	6	5	392	5	PRRG3	23	150869191	Missense_Mutation	SNP	A	TCGA-13-1411-01A-01W-0494-09	67740948	150869191	4401369	51	6926											
SV2A	9900	genome.wustl.edu	37	1	149884907	149884907	+	Silent	SNP	G	G	A			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr1:149884907G>A	ENST00000369146.3	-	2	976	c.486C>T	c.(484-486)ggC>ggT	p.G162G	SV2A_ENST00000369145.1_Silent_p.G162G	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	162					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.G162G(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACTGGAAGCGGCCGTGGCCAC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	1											102	101	101					1																	149884907		2203	4300	6503	148151531	SO:0001819	synonymous_variant	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.486C>T	1.37:g.149884907G>A			148151531	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	CCDS940.1																																																																																				0.617	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			A	149884907	G	A	149884907	2	1	127	1	0	0	0	0	0	0	0	1	15417	1190	42	2		2	SV2A	1	149884907	Silent	SNP	G	TCGA-13-1412-01A-01W-0494-09		149884907	99365714	1	6927											
FLG	2312	genome.wustl.edu	37	1	152278109	152278109	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr1:152278109C>G	ENST00000368799.1	-	3	9288	c.9253G>C	c.(9253-9255)Gga>Cga	p.G3085R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3085	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G3085R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCTTCCTCTAGTGCTG	0.572									Ichthyosis																																							1	Substitution - Missense(1)	ovary(1)	1											47	64	59					1																	152278109		1948	4168	6116	150544733	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9253G>C	1.37:g.152278109C>G	ENSP00000357789:p.Gly3085Arg		150544733	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571555	0.13623	.	.	ENSG00000143631	ENST00000368799	T	0.02974	4.09	3.59	-0.246	0.13022	.	.	.	.	.	T	0.00468	0.0015	N	0.25380	0.74	0.09310	N	1	P	0.47841	0.901	B	0.33846	0.171	T	0.41179	-0.9523	9	0.15952	T	0.53	.	2.8322	0.05503	0.0:0.4084:0.2417:0.3499	.	3085	P20930	FILA_HUMAN	R	3085	ENSP00000357789:G3085R	ENSP00000357789:G3085R	G	-	1	0	FLG	150544733	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-3.142000	0.00585	0.142000	0.18901	0.449000	0.29647	GGA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152278109	C	G	152278109	3	3	127	1	0	0	0	0	1	0	0	0	5922	690	24	3	2936	3	FLG	1	152278109	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09	2393202	152278109	96972512	2	6928											
CACNA1E	777	genome.wustl.edu	37	1	181708291	181708291	+	Silent	SNP	C	C	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr1:181708291C>T	ENST00000367573.2	+	25	3621	c.3621C>T	c.(3619-3621)gaC>gaT	p.D1207D	CACNA1E_ENST00000526775.1_Silent_p.D1188D|CACNA1E_ENST00000357570.5_Silent_p.D1158D|CACNA1E_ENST00000360108.3_Silent_p.D1188D|CACNA1E_ENST00000358338.5_Silent_p.D1139D|CACNA1E_ENST00000367570.1_Silent_p.D1207D|CACNA1E_ENST00000367567.4_Silent_p.D814D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1207					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.D1207D(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGATGATAGACCAAGGCTTGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	1											243	247	246					1																	181708291		2105	4224	6329	179974914	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3621C>T	1.37:g.181708291C>T			179974914	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181708291	C	T	181708291	2	4	127	1	0	0	0	0	0	0	0	1	2542	506	18	2		2	CACNA1E	1	181708291	Silent	SNP	C	TCGA-13-1412-01A-01W-0494-09	29430182	181708291	67542330	3	6929											
KCNT2	343450	genome.wustl.edu	37	1	196398705	196398705	+	Splice_Site	SNP	A	A	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr1:196398705A>T	ENST00000294725.9	-	9	1735		c.e9+1		KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGTTTTGTTTACCTGTATGGG	0.378																																																1	Unknown(1)	ovary(1)	1											80	73	76					1																	196398705		2203	4300	6503	194665328	SO:0001630	splice_region_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.819+1T>A	1.37:g.196398705A>T			194665328	Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.267401	0.80469	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7343	0.77831	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194665328	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	9.333000	0.96459	2.115000	0.64714	0.533000	0.62120	.		0.378	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Intron	T	196398705	A	T	196398705	5	4	127	1	0	0	0	0	0	0	1	0	8092	405	14	5	2666	5	KCNT2	1	196398705	Splice_Site	SNP	A	TCGA-13-1412-01A-01W-0494-09	14690414	196398705	52851916	4	6930											
SNRNP200	23020	genome.wustl.edu	37	2	96969050	96969050	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr2:96969050C>G	ENST00000323853.5	-	3	305	c.228G>C	c.(226-228)gaG>gaC	p.E76D	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E76D	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	76					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E76D(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATGCCGGTCCTCATCACGCT	0.493																																																1	Substitution - Missense(1)	ovary(1)	2											294	278	284					2																	96969050		2203	4300	6503	96332777	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.228G>C	2.37:g.96969050C>G	ENSP00000317123:p.Glu76Asp		96332777	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554930	0.27739	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.45668	0.89;0.89	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	L	0.28504	0.86	0.58432	D	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.07424	-1.0773	10	0.24483	T	0.36	-21.2427	10.0417	0.42162	0.0:0.8439:0.0:0.1561	.	76	O75643	U520_HUMAN	D	76	ENSP00000317123:E76D;ENSP00000326937:E76D	ENSP00000317123:E76D	E	-	3	2	SNRNP200	96332777	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.236000	0.32683	1.408000	0.46895	-0.150000	0.13652	GAG		0.493	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		G	96969050	C	G	96969050	3	3	127	1	0	0	0	0	1	0	0	0	14855	680	24	3	6354	3	SNRNP200	2	96969050	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09		96969050	146230323	5	6931											
PLEKHB2	55041	genome.wustl.edu	37	2	131904258	131904258	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr2:131904258A>T	ENST00000403716.1	+	8	1141	c.581A>T	c.(580-582)tAt>tTt	p.Y194F	PLEKHB2_ENST00000409158.1_Missense_Mutation_p.Y202F|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.Y194F|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.I150F|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.Y146F|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.I158F|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.Y194F|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.Y193F	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	194						endosome (GO:0005768)|membrane (GO:0016020)		p.Y193F(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CGAGAGCGCTATCGAGACAAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											178	184	182					2																	131904258		2203	4300	6503	131620728	SO:0001583	missense	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.581A>T	2.37:g.131904258A>T	ENSP00000385892:p.Tyr194Phe		131620728	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	37	CCDS46413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.47|16.47	3.132829|3.132829	0.56828|0.56828	.|.	.|.	ENSG00000115762|ENSG00000115762	ENST00000439822;ENST00000438882|ENST00000409158;ENST00000403716;ENST00000234115;ENST00000538982;ENST00000409612;ENST00000409279	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|.	.|.	.|.	.|.	T|T	0.60183|0.60183	0.2249|0.2249	M|M	0.63428|0.63428	1.95|1.95	0.39631|0.39631	D|D	0.970177|0.970177	P;B|P;P;P;P	0.43169|0.39665	0.8;0.165|0.457;0.592;0.457;0.682	B;B|B;B;B;B	0.38562|0.42771	0.276;0.059|0.223;0.397;0.223;0.223	T|T	0.65364|0.65364	-0.6186|-0.6186	7|8	.|0.52906	.|T	.|0.07	.|.	13.7769|13.7769	0.63059|0.63059	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	150;158|193;193;194;202	B4DZ66;B4DF08|Q53FF1;Q96CS7-3;Q96CS7;B8ZZN1	.;.|.;.;PKHB2_HUMAN;.	F|F	150;158|202;194;193;146;194;194	.|.	.|ENSP00000234115:Y193F	I|Y	+|+	1|2	0|0	PLEKHB2|PLEKHB2	131620728|131620728	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.780000|0.780000	0.44128|0.44128	7.282000|7.282000	0.78630|0.78630	2.144000|2.144000	0.66660|0.66660	0.524000|0.524000	0.50904|0.50904	ATC|TAT		0.512	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		T	131904258	A	T	131904258	3	4	127	1	0	0	0	0	1	0	0	0	12065	449	16	5	607	5	PLEKHB2	2	131904258	Missense_Mutation	SNP	A	TCGA-13-1412-01A-01W-0494-09	34935208	131904258	111295115	6	6932											
SCN9A	6335	genome.wustl.edu	37	2	167128930	167128930	+	Silent	SNP	C	C	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr2:167128930C>T	ENST00000409435.1	-	16	3329	c.3330G>A	c.(3328-3330)tcG>tcA	p.S1110S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.S1111S|SCN9A_ENST00000409672.1_Silent_p.S1099S|SCN9A_ENST00000375387.4_Silent_p.S1111S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1110					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S1099S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCACTATCCGAATCACTGC	0.348																																																1	Substitution - coding silent(1)	ovary(1)	2											65	57	60					2																	167128930		1849	4098	5947	166837176	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3330G>A	2.37:g.167128930C>T			166837176	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																				0.348	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167128930	C	T	167128930	2	4	127	1	0	0	0	0	0	0	0	1	13928	639	23	1		1	SCN9A	2	167128930	Silent	SNP	C	TCGA-13-1412-01A-01W-0494-09	35224672	167128930	76070443	7	6933											
TTN	7273	genome.wustl.edu	37	2	179430843	179430843	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr2:179430843C>G	ENST00000591111.1	-	276	75317	c.75093G>C	c.(75091-75093)aaG>aaC	p.K25031N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17732N|TTN_ENST00000460472.2_Missense_Mutation_p.K17607N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K26672N|TTN_ENST00000342992.6_Missense_Mutation_p.K24104N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17799N|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25031	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K17607N(1)|p.K24102N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAAGCAGACTTTGATCCAC	0.393																																																2	Substitution - Missense(2)	ovary(2)	2											176	169	171					2																	179430843		1867	4101	5968	179139089	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75093G>C	2.37:g.179430843C>G	ENSP00000465570:p.Lys25031Asn		179139089	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	8.253	0.809506	0.16537	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.81	2.39	0.29439	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78585	0.4306	M	0.77820	2.39	0.38320	D	0.943503	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.78061	-0.2351	9	0.87932	D	0	.	7.9321	0.29907	0.0:0.4204:0.0:0.5796	.	17607;17732;17799;25031	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	24104;17607;17799;17732;17605	ENSP00000343764:K24104N;ENSP00000434586:K17607N;ENSP00000340554:K17799N;ENSP00000352154:K17732N	ENSP00000340554:K17799N	K	-	3	2	TTN	179139089	0.992000	0.36948	0.991000	0.47740	0.979000	0.70002	0.283000	0.18846	0.191000	0.20236	-0.300000	0.09419	AAG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179430843	C	G	179430843	3	3	127	1	0	0	0	0	1	0	0	0	16735	564	20	3	28111	3	TTN	2	179430843	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09	12301913	179430843	63768530	8	6934											
OR5H6	79295	genome.wustl.edu	37	3	97983667	97983667	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr3:97983667T>C	ENST00000383696.2	+	1	580	c.539T>C	c.(538-540)tTc>tCc	p.F180S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F180S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCTTTTTCATTCAGATTAACC	0.328																																																1	Substitution - Missense(1)	ovary(1)	3											78	80	79					3																	97983667		2203	4297	6500	99466357	SO:0001583	missense	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.539T>C	3.37:g.97983667T>C	ENSP00000373196:p.Phe180Ser		99466357	Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	9.178	1.022843	0.19433	.	.	ENSG00000230301	ENST00000383696	T	0.00220	8.52	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.785759	0.11107	N	0.598999	T	0.00178	0.0005	L	0.45422	1.42	0.09310	N	1	B	0.21520	0.057	B	0.27715	0.082	T	0.35724	-0.9777	10	0.72032	D	0.01	.	3.9761	0.09475	0.0:0.1866:0.0:0.8133	.	180	Q8NGV6	OR5H6_HUMAN	S	180	ENSP00000373196:F180S	ENSP00000373196:F180S	F	+	2	0	OR5H6	99466357	0.002000	0.14202	0.889000	0.34880	0.093000	0.18481	0.374000	0.20501	1.006000	0.39211	0.163000	0.16589	TTC		0.328	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			C	97983667	T	C	97983667	3	2	127	1	0	0	0	0	1	0	0	0	11163	1783	62	4	541	4	OR5H6	3	97983667	Missense_Mutation	SNP	T	TCGA-13-1412-01A-01W-0494-09		97983667	100038763	9	6935											
EIF2B5	8893	genome.wustl.edu	37	3	183860567	183860567	+	Splice_Site	SNP	G	G	A			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr3:183860567G>A	ENST00000273783.3	+	11	1669	c.1547G>A	c.(1546-1548)gGa>gAa	p.G516E	EIF2B5_ENST00000444495.1_Splice_Site_p.G516E	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	516					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.G516E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGCTTCTCAGGACTCAAGATC	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											23	27	25					3																	183860567		2201	4299	6500	185343261	SO:0001630	splice_region_variant	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1547-1G>A	3.37:g.183860567G>A			185343261	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	17.27	3.347011	0.61183	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.97888	-4.59;-4.59	5.79	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.98096	0.9372	L	0.56769	1.78	0.80722	D	1	P;D	0.89917	0.675;1.0	B;D	0.77004	0.241;0.989	D	0.98126	1.0428	9	.	.	.	.	14.7653	0.69634	0.0701:0.0:0.9299:0.0	.	516;516	E9PC74;Q13144	.;EI2BE_HUMAN	E	516;516;272	ENSP00000273783:G516E;ENSP00000409142:G516E	.	G	+	2	0	EIF2B5	185343261	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	6.116000	0.71571	1.464000	0.47987	-0.254000	0.11334	GGA		0.458	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1		Missense_Mutation	A	183860567	G	A	183860567	5	1	127	1	0	0	0	0	0	0	1	0	5004	1188	41	2	1589	2	EIF2B5	3	183860567	Splice_Site	SNP	G	TCGA-13-1412-01A-01W-0494-09	85876900	183860567	14161863	10	6936											
ACAP2	23527	genome.wustl.edu	37	3	195013022	195013022	+	Missense_Mutation	SNP	G	G	A	rs546719175	byFrequency	TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr3:195013022G>A	ENST00000326793.6	-	19	2155	c.1925C>T	c.(1924-1926)gCg>gTg	p.A642V		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	642					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.A642V(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AAGTGGTGTCGCTTTGTTTTC	0.383													G|||	3	0.000599042	0	0	5008	,	,		18643	0		0	False		,,,				2504	0.0031															1	Substitution - Missense(1)	ovary(1)	3											166	164	165					3																	195013022		2203	4300	6503	196494311	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1925C>T	3.37:g.195013022G>A	ENSP00000324287:p.Ala642Val		196494311	A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088266	0.76756	.	.	ENSG00000114331	ENST00000326793	T	0.65549	-0.16	5.43	5.43	0.79202	Ankyrin repeat-containing domain (3);	0.108834	0.64402	D	0.000005	T	0.48132	0.1483	N	0.20685	0.6	0.42331	D	0.992293	P	0.43973	0.823	B	0.37731	0.257	T	0.49224	-0.8962	10	0.30854	T	0.27	.	18.2382	0.89957	0.0:0.0:1.0:0.0	.	642	Q15057	ACAP2_HUMAN	V	642	ENSP00000324287:A642V	ENSP00000324287:A642V	A	-	2	0	ACAP2	196494311	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.569000	0.45973	2.560000	0.86352	0.655000	0.94253	GCG		0.383	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		A	195013022	G	A	195013022	3	1	127	1	0	0	0	0	1	0	0	0	119	1087	38	1	431	1	ACAP2	3	195013022	Missense_Mutation	SNP	G	TCGA-13-1412-01A-01W-0494-09	11152455	195013022	3009408	11	6937											
PDE6A	5145	genome.wustl.edu	37	5	149324230	149324230	+	Nonsense_Mutation	SNP	C	C	A	rs35515899|rs577050700	byFrequency	TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr5:149324230C>A	ENST00000255266.5	-	1	126	c.7G>T	c.(7-9)Gag>Tag	p.E3*		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	3					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.E3*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GCTGTCACCTCGCCCATGGCT	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	5																																								149304423	SO:0001587	stop_gained	5145				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.7G>T	5.37:g.149324230C>A	ENSP00000255266:p.Glu3*		149304423	Q0P638	Nonsense_Mutation	SNP	ENST00000255266.5	37	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687157	0.96784	.	.	ENSG00000132915	ENST00000255266	.	.	.	5.79	5.79	0.91817	.	0.200405	0.43747	D	0.000527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	15.5247	0.75894	0.0:1.0:0.0:0.0	.	.	.	.	X	3	.	ENSP00000255266:E3X	E	-	1	0	PDE6A	149304423	0.946000	0.32159	0.956000	0.39512	0.393000	0.30537	4.673000	0.61604	2.750000	0.94351	0.561000	0.74099	GAG		0.547	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			A	149324230	C	A	149324230	4	1	127	1	0	0	0	0	0	1	0	0	11645	893	31	3	2663	3	PDE6A	5	149324230	Nonsense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09		149324230	31591030	12	6938											
MUC17	140453	genome.wustl.edu	37	7	100686997	100686997	+	Silent	SNP	A	A	C			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr7:100686997A>C	ENST00000306151.4	+	3	12364	c.12300A>C	c.(12298-12300)acA>acC	p.T4100T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4100					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T4100T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACCCAGCACACGGACCACTT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	7											200	188	192					7																	100686997		2203	4300	6503	100473717	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12300A>C	7.37:g.100686997A>C			100473717	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.562	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100686997	A	C	100686997	2	2	127	1	0	0	0	0	0	0	0	1	9974	146	6	5		5	MUC17	7	100686997	Silent	SNP	A	TCGA-13-1412-01A-01W-0494-09		100686997	58451666	13	6939											
ZNF658	26149	genome.wustl.edu	37	9	40773969	40773969	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr9:40773969C>T	ENST00000602553.1	-	5	1600	c.1306G>A	c.(1306-1308)Gga>Aga	p.G436R	ZNF658_ENST00000377626.3_Missense_Mutation_p.G436R|ZNF658_ENST00000441795.1_Missense_Mutation_p.G434R			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	436					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.G436R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGTTTGAATCCCACATAAGTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	9											45	46	46					9																	40773969		2195	4278	6473	40763969	SO:0001583	missense	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1306G>A	9.37:g.40773969C>T	ENSP00000473484:p.Gly436Arg		40763969	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	18.13	3.555677	0.65425	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.20332	2.08;2.08	1.96	1.04	0.20106	.	.	.	.	.	T	0.32102	0.0818	L	0.51914	1.62	0.09310	N	1	D;D	0.67145	0.996;0.982	P;P	0.62649	0.905;0.706	T	0.08659	-1.0711	9	0.56958	D	0.05	.	6.5707	0.22537	0.0:0.8355:0.0:0.1645	.	436;436	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	R	434;436	ENSP00000408462:G434R;ENSP00000366853:G436R	ENSP00000366853:G436R	G	-	1	0	ZNF658	40763969	0.208000	0.23494	0.000000	0.03702	0.832000	0.47134	2.829000	0.48128	0.411000	0.25702	0.384000	0.25694	GGA		0.383	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		T	40773969	C	T	40773969	3	4	127	1	0	0	0	0	1	0	0	0	18069	632	22	2	1877	2	ZNF658	9	40773969	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09		40773969	100439462	14	6940											
MRRF	92399	genome.wustl.edu	37	9	125033218	125033218	+	Silent	SNP	C	C	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr9:125033218C>T	ENST00000344641.3	+	2	359	c.48C>T	c.(46-48)cgC>cgT	p.R16R	MRRF_ENST00000373730.3_Silent_p.R16R|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000394315.3_Silent_p.R16R|MRRF_ENST00000297908.3_Silent_p.R16R|MRRF_ENST00000373724.1_Intron|MRRF_ENST00000373723.5_Silent_p.R16R|MRRF_ENST00000546115.1_Silent_p.R16R	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	16					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)		p.R16R(1)		breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CTACCTTTCGCAATTATCTTG	0.443																																																1	Substitution - coding silent(1)	ovary(1)	9											208	209	209					9																	125033218		2203	4300	6503	124073039	SO:0001819	synonymous_variant	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.48C>T	9.37:g.125033218C>T			124073039	A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Silent	SNP	ENST00000344641.3	37	CCDS6840.1																																																																																				0.443	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777		T	125033218	C	T	125033218	2	4	127	1	0	0	0	0	0	0	0	1	9850	697	25	2		2	MRRF	9	125033218	Silent	SNP	C	TCGA-13-1412-01A-01W-0494-09	84259249	125033218	16180213	15	6941											
NUP214	8021	genome.wustl.edu	37	9	134050999	134050999	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr9:134050999C>G	ENST00000359428.5	+	23	3454	c.3310C>G	c.(3310-3312)Cag>Gag	p.Q1104E	NUP214_ENST00000451030.1_Missense_Mutation_p.Q1105E|NUP214_ENST00000411637.2_Missense_Mutation_p.Q1094E			P35658	NU214_HUMAN	nucleoporin 214kDa	1104	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.Q1104E(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GATGGCCAGTCAGGCACCAGG	0.592			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	1	Substitution - Missense(1)	ovary(1)	9											27	26	26					9																	134050999		2203	4300	6503	133040820	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3310C>G	9.37:g.134050999C>G	ENSP00000352400:p.Gln1104Glu		133040820	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806536	0.90623	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.38077	1.17;1.16;1.17	5.79	5.79	0.91817	.	0.000000	0.40144	N	0.001164	T	0.42832	0.1220	N	0.08118	0	0.58432	D	0.999999	P;D;D;D	0.71674	0.898;0.998;0.996;0.996	P;D;D;D	0.80764	0.57;0.994;0.987;0.987	T	0.52170	-0.8611	10	0.52906	T	0.07	-6.2768	19.0281	0.92941	0.0:1.0:0.0:0.0	.	1093;698;1094;1104	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	E	1104;1094;1105;1093;698;533	ENSP00000352400:Q1104E;ENSP00000396576:Q1094E;ENSP00000405014:Q1105E	ENSP00000352400:Q1104E	Q	+	1	0	NUP214	133040820	1.000000	0.71417	0.934000	0.37439	0.870000	0.49936	4.857000	0.62939	2.733000	0.93635	0.655000	0.94253	CAG		0.592	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		G	134050999	C	G	134050999	3	3	127	1	0	0	0	0	1	0	0	0	10762	827	29	3	3400	3	NUP214	9	134050999	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09	9017781	134050999	7162432	16	6942											
C9orf171	389799	genome.wustl.edu	37	9	135374905	135374905	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr9:135374905C>T	ENST00000343036.2	+	4	598	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	C9orf171_ENST00000393216.2_Missense_Mutation_p.R148C|C9orf171_ENST00000393215.3_Missense_Mutation_p.R148C	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	184			R -> H (in dbSNP:rs11243798).					p.R184C(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CAATGACATCCGCATCAGTGA	0.602																																																1	Substitution - Missense(1)	ovary(1)	9											87	88	87					9																	135374905		2203	4300	6503	134364726	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.550C>T	9.37:g.135374905C>T	ENSP00000343290:p.Arg184Cys		134364726	Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088807	0.76756	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.27557	1.66;1.66;1.66	5.15	5.15	0.70609	.	0.067918	0.64402	D	0.000020	T	0.52693	0.1750	L	0.60455	1.87	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	T	0.54132	-0.8339	10	0.87932	D	0	.	16.1436	0.81548	0.0:1.0:0.0:0.0	.	148;184	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	C	148;184;148	ENSP00000376908:R148C;ENSP00000343290:R184C;ENSP00000376909:R148C	ENSP00000343290:R184C	R	+	1	0	C9orf171	134364726	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.005000	0.40864	2.560000	0.86352	0.561000	0.74099	CGC		0.602	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		T	135374905	C	T	135374905	3	4	127	1	0	0	0	0	1	0	0	0	2470	652	23	1	564	1	C9orf171	9	135374905	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09	1323906	135374905	5838526	17	6943											
MPP7	143098	genome.wustl.edu	37	10	28408644	28408644	+	Splice_Site	SNP	C	C	G			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr10:28408644C>G	ENST00000375732.1	-	11	1147	c.888G>C	c.(886-888)agG>agC	p.R296S	MPP7_ENST00000540098.1_Splice_Site_p.R296S|MPP7_ENST00000375719.3_Splice_Site_p.R296S|MPP7_ENST00000337532.5_Splice_Site_p.R296S|MPP7_ENST00000445954.2_Splice_Site_p.R171S			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	296	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.R296S(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAGCCAATCTCCTGGGAGAAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	10											95	97	96					10																	28408644		2203	4300	6503	28448650	SO:0001630	splice_region_variant	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.888-1G>C	10.37:g.28408644C>G			28448650	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682680	0.68157	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	D;D;D;D;T;D	0.82619	-1.63;-1.63;-1.63;-1.63;1.47;-1.63	5.63	5.63	0.86233	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.87904	0.6295	M	0.90198	3.095	0.80722	D	1	B	0.12013	0.005	B	0.23150	0.044	D	0.85545	0.1218	10	0.72032	D	0.01	.	19.699	0.96045	0.0:1.0:0.0:0.0	.	296	Q5T2T1	MPP7_HUMAN	S	296;296;296;296;57;171	ENSP00000364884:R296S;ENSP00000337907:R296S;ENSP00000438693:R296S;ENSP00000364871:R296S;ENSP00000398319:R57S;ENSP00000405397:R171S	ENSP00000337907:R296S	R	-	3	2	MPP7	28448650	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.877000	0.63086	2.655000	0.90218	0.650000	0.86243	AGG		0.368	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496	Missense_Mutation	G	28408644	C	G	28408644	5	3	127	1	0	0	0	0	0	0	1	0	9739	869	30	3	870	3	MPP7	10	28408644	Splice_Site	SNP	C	TCGA-13-1412-01A-01W-0494-09		28408644	107126103	18	6944											
CCAR1	55749	genome.wustl.edu	37	10	70496663	70496663	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr10:70496663T>C	ENST00000265872.6	+	3	223	c.104T>C	c.(103-105)cTt>cCt	p.L35P	Y_RNA_ENST00000352915.2_RNA|CCAR1_ENST00000543719.1_Missense_Mutation_p.L35P|CCAR1_ENST00000535016.1_Missense_Mutation_p.L35P	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	35					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.L35P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCATCACTCCTTGGAGCATCT	0.373																																																1	Substitution - Missense(1)	ovary(1)	10											108	104	105					10																	70496663		2203	4300	6503	70166669	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.104T>C	10.37:g.70496663T>C	ENSP00000265872:p.Leu35Pro		70166669	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916357	0.73098	.	.	ENSG00000060339	ENST00000536391;ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000494903	T;T;T;T;T	0.30714	1.52;1.68;1.68;1.69;1.68	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.81914	0.994;0.995	T	0.32534	-0.9903	10	0.45353	T	0.12	-13.2436	15.7693	0.78152	0.0:0.0:0.0:1.0	.	35;35	Q8IX12-2;Q8IX12	.;CCAR1_HUMAN	P	35;35;35;35;35;35;35;94	ENSP00000265872:L35P;ENSP00000441820:L35P;ENSP00000445254:L35P;ENSP00000439252:L35P;ENSP00000438610:L35P	ENSP00000265872:L35P	L	+	2	0	CCAR1	70166669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.354000	0.79424	2.180000	0.69256	0.533000	0.62120	CTT		0.373	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		C	70496663	T	C	70496663	3	2	127	1	0	0	0	0	1	0	0	0	2730	1609	56	4	110	4	CCAR1	10	70496663	Missense_Mutation	SNP	T	TCGA-13-1412-01A-01W-0494-09	42088019	70496663	65038084	19	6945											
C10orf35	219738	genome.wustl.edu	37	10	71392712	71392712	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr10:71392712C>A	ENST00000373279.4	+	4	422	c.263C>A	c.(262-264)cCg>cAg	p.P88Q	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	88						integral component of membrane (GO:0016021)		p.P88Q(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTGTGGAGCCGGTGACCTCC	0.607																																																1	Substitution - Missense(1)	ovary(1)	10											168	121	137					10																	71392712		2203	4300	6503	71062718	SO:0001583	missense	219738			BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.263C>A	10.37:g.71392712C>A	ENSP00000362376:p.Pro88Gln		71062718		Missense_Mutation	SNP	ENST00000373279.4	37	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226032	0.79576	.	.	ENSG00000171224	ENST00000373279	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000003	T	0.79251	0.4414	M	0.73962	2.25	0.42767	D	0.99382	D	0.89917	1.0	D	0.91635	0.999	T	0.81974	-0.0687	9	0.87932	D	0	-5.4557	16.526	0.84331	0.0:1.0:0.0:0.0	.	88	Q96D05	CJ035_HUMAN	Q	88	.	ENSP00000362376:P88Q	P	+	2	0	C10orf35	71062718	0.998000	0.40836	0.979000	0.43373	0.941000	0.58515	4.836000	0.62789	2.502000	0.84385	0.561000	0.74099	CCG		0.607	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		A	71392712	C	A	71392712	3	1	127	1	0	0	0	0	1	0	0	0	1603	652	23	3	269	3	C10orf35	10	71392712	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09	896049	71392712	64142035	20	6946											
PKD2L1	9033	genome.wustl.edu	37	10	102059466	102059466	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr10:102059466C>A	ENST00000318222.3	-	3	741	c.359G>T	c.(358-360)gGa>gTa	p.G120V	PKD2L1_ENST00000353274.3_Missense_Mutation_p.G120V|PKD2L1_ENST00000338519.3_Missense_Mutation_p.G120V	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	120					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.G120V(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCTTGTCATTCCATAGGTCAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	10											159	136	144					10																	102059466		2203	4300	6503	102049456	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.359G>T	10.37:g.102059466C>A	ENSP00000325296:p.Gly120Val		102049456	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699936	0.88924	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.62364	0.14;0.03;0.08	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.81887	-0.0726	10	0.45353	T	0.12	-10.7716	17.9675	0.89103	0.0:1.0:0.0:0.0	.	73;120	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	V	120	ENSP00000345068:G120V;ENSP00000266049:G120V;ENSP00000325296:G120V	ENSP00000325296:G120V	G	-	2	0	PKD2L1	102049456	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.441000	0.80485	2.480000	0.83734	0.555000	0.69702	GGA		0.483	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		A	102059466	C	A	102059466	3	1	127	1	0	0	0	0	1	0	0	0	11967	855	30	3	2114	3	PKD2L1	10	102059466	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09	30666754	102059466	33475281	21	6947											
SYT12	91683	genome.wustl.edu	37	11	66811285	66811285	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr11:66811285G>T	ENST00000393946.2	+	8	1960	c.798G>T	c.(796-798)caG>caT	p.Q266H	SYT12_ENST00000527043.1_Missense_Mutation_p.Q266H|SYT12_ENST00000525457.1_Missense_Mutation_p.Q266H			Q8IV01	SYT12_HUMAN	synaptotagmin XII	266	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.Q266H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCCCGCTGCAGCCCTTCAGTG	0.552																																					Ovarian(65;2862 3307)											1	Substitution - Missense(1)	ovary(1)	11											94	72	79					11																	66811285		2200	4295	6495	66567861	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.798G>T	11.37:g.66811285G>T	ENSP00000377520:p.Gln266His		66567861		Missense_Mutation	SNP	ENST00000393946.2	37	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293967	0.60086	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.71934	-0.61;-0.61;-0.61	5.27	5.27	0.74061	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.140375	0.48286	D	0.000181	T	0.60077	0.2241	L	0.29908	0.895	0.37657	D	0.922614	P	0.51240	0.943	B	0.43701	0.428	T	0.65442	-0.6167	10	0.39692	T	0.17	.	11.4945	0.50400	0.0:0.0:0.8207:0.1793	.	266	Q8IV01	SYT12_HUMAN	H	266	ENSP00000377520:Q266H;ENSP00000431400:Q266H;ENSP00000435316:Q266H	ENSP00000377520:Q266H	Q	+	3	2	SYT12	66567861	0.997000	0.39634	1.000000	0.80357	0.853000	0.48598	0.412000	0.21131	2.467000	0.83353	0.462000	0.41574	CAG		0.552	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		T	66811285	G	T	66811285	3	4	127	1	0	0	0	0	1	0	0	0	15468	962	34	3	812	3	SYT12	11	66811285	Missense_Mutation	SNP	G	TCGA-13-1412-01A-01W-0494-09		66811285	68195231	22	6948											
NUMA1	4926	genome.wustl.edu	37	11	71726361	71726375	+	In_Frame_Del	DEL	CCAGGGCATCTGCAG	CCAGGGCATCTGCAG	-	rs370348490		TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	CCAGGGCATCTGCAG	CCAGGGCATCTGCAG	CCAGGGCATCTGCAG	-	CCAGGGCATCTGCAG	CCAGGGCATCTGCAG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr11:71726361_71726375delCCAGGGCATCTGCAG	ENST00000393695.3	-	15	2505_2519	c.2174_2188delCTGCAGATGCCCTGG	c.(2173-2190)gctgcagatgccctggaa>gaa	p.AADAL725del	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_In_Frame_Del_p.AADAL725del	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.A725_L729del(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGCTCTTCCAGGGCATCTGCAGCCCTGCGCTT	0.6			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	1	Deletion - In frame(1)	ovary(1)	11																																								71404023	SO:0001651	inframe_deletion	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2174_2188delCTGCAGATGCCCTGG	11.37:g.71726361_71726375delCCAGGGCATCTGCAG	ENSP00000377298:p.Ala725_Leu729del		71404009		In_Frame_Del	DEL	ENST00000393695.3	37	CCDS31633.1																																																																																				0.6	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			-	71726375	CCAGGGCATCTGCAG	-	71726361	7	5	127	1	0	1	0	1	0	0	0	0	10750	864	30	0	4211	0	NUMA1	11	71726361	In_Frame_Del	DEL	CCAGGGCATCTGCAG	TCGA-13-1412-01A-01W-0494-09	4915076	71726361	63280155	23	6949											
DDX25	29118	genome.wustl.edu	37	11	125787021	125787021	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr11:125787021G>C	ENST00000263576.6	+	9	1068	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	305					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.E191Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GTTACGCAAAGAGGAGCTCAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											80	79	79					11																	125787021		2108	4245	6353	125292231	SO:0001583	missense	29118			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.913G>C	11.37:g.125787021G>C	ENSP00000263576:p.Glu305Gln		125292231	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879235	0.51801	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.03580	3.88	5.79	5.79	0.91817	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	M	0.84326	2.69	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.71870	0.946;0.975	T	0.00132	-1.2012	10	0.72032	D	0.01	-6.9125	19.6367	0.95736	0.0:0.0:1.0:0.0	.	305;305	B4DHI6;Q9UHL0	.;DDX25_HUMAN	Q	191;305;171	ENSP00000263576:E305Q	ENSP00000263576:E305Q	E	+	1	0	DDX25	125292231	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	9.378000	0.97191	2.735000	0.93741	0.655000	0.94253	GAG		0.463	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		C	125787021	G	C	125787021	3	2	127	1	0	0	0	0	1	0	0	0	4352	943	33	3	947	3	DDX25	11	125787021	Missense_Mutation	SNP	G	TCGA-13-1412-01A-01W-0494-09	54060660	125787021	9219495	24	6950											
CHD4	1108	genome.wustl.edu	37	12	6701183	6701183	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr12:6701183G>A	ENST00000357008.2	-	20	3152	c.2989C>T	c.(2989-2991)Ctc>Ttc	p.L997F	CHD4_ENST00000544040.1_Missense_Mutation_p.L990F|CHD4_ENST00000544484.1_Missense_Mutation_p.L994F|CHD4_ENST00000309577.6_Missense_Mutation_p.L997F	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	997					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.L997F(1)		central_nervous_system(2)	2						CGGGCATTGAGTGCTTCAAAA	0.458																																					Colon(32;586 792 4568 16848 45314)											1	Substitution - Missense(1)	ovary(1)	12											153	149	150					12																	6701183		2203	4300	6503	6571444	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2989C>T	12.37:g.6701183G>A	ENSP00000349508:p.Leu997Phe		6571444	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964390	0.92791	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.73	4.73	0.59995	SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.87553	0.6206	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.975;0.995;0.996	D	0.89081	0.3476	10	0.87932	D	0	.	17.8935	0.88879	0.0:0.0:1.0:0.0	.	997;997;990	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	F	994;990;997;997;971	ENSP00000440392:L994F;ENSP00000440542:L990F;ENSP00000312419:L997F;ENSP00000349508:L997F	ENSP00000312419:L997F	L	-	1	0	CHD4	6571444	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	7.740000	0.84986	2.450000	0.82876	0.563000	0.77884	CTC		0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6701183	G	A	6701183	3	1	127	1	0	0	0	0	1	0	0	0	3327	1029	36	2	2833	2	CHD4	12	6701183	Missense_Mutation	SNP	G	TCGA-13-1412-01A-01W-0494-09		6701183	127150712	25	6951											
KCNH5	27133	genome.wustl.edu	37	14	63416873	63416873	+	Silent	SNP	C	C	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr14:63416873C>T	ENST00000322893.7	-	7	1615	c.1347G>A	c.(1345-1347)tcG>tcA	p.S449S	KCNH5_ENST00000394964.2_Silent_p.S391S|KCNH5_ENST00000394968.1_Silent_p.S391S|KCNH5_ENST00000420622.2_Silent_p.S449S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	449					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.S449S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCATAGCCACCGAAAACATCT	0.368																																																1	Substitution - coding silent(1)	ovary(1)	14											90	86	87					14																	63416873		2203	4300	6503	62486626	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1347G>A	14.37:g.63416873C>T			62486626	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.368	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63416873	C	T	63416873	2	4	127	1	0	0	0	0	0	0	0	1	8035	639	23	1		1	KCNH5	14	63416873	Silent	SNP	C	TCGA-13-1412-01A-01W-0494-09		63416873	43932667	26	6952											
CILP	8483	genome.wustl.edu	37	15	65490724	65490724	+	Missense_Mutation	SNP	T	T	A	rs201651652		TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr15:65490724T>A	ENST00000261883.4	-	9	2066	c.1900A>T	c.(1900-1902)Aca>Tca	p.T634S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	634					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.T634S(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCTGTGGCTGTGGAAATATTC	0.512																																																1	Substitution - Missense(1)	ovary(1)	15											158	156	157					15																	65490724		2202	4299	6501	63277777	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1900A>T	15.37:g.65490724T>A	ENSP00000261883:p.Thr634Ser		63277777	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	T	8.166	0.790585	0.16258	.	.	ENSG00000138615	ENST00000261883	T	0.38560	1.13	5.63	4.44	0.53790	.	0.046080	0.85682	D	0.000000	T	0.23249	0.0562	N	0.25647	0.755	0.52501	D	0.999958	P	0.39809	0.689	B	0.31614	0.133	T	0.05533	-1.0879	10	0.13108	T	0.6	-10.8142	10.9328	0.47228	0.14:0.0:0.0:0.86	.	634	O75339	CILP1_HUMAN	S	634	ENSP00000261883:T634S	ENSP00000261883:T634S	T	-	1	0	CILP	63277777	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.453000	0.52978	2.145000	0.66743	0.533000	0.62120	ACA		0.512	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		A	65490724	T	A	65490724	3	1	127	1	0	0	0	0	1	0	0	0	3429	1696	59	5	1658	5	CILP	15	65490724	Missense_Mutation	SNP	T	TCGA-13-1412-01A-01W-0494-09		65490724	37040668	27	6953											
MBTPS1	8720	genome.wustl.edu	37	16	84115432	84115432	+	Silent	SNP	G	G	C			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr16:84115432G>C	ENST00000343411.3	-	11	1863	c.1368C>G	c.(1366-1368)gtC>gtG	p.V456V	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	456	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.V456V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAACATGTTGACCCCGGGGA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	16											88	85	86					16																	84115432		2200	4300	6500	82672933	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1368C>G	16.37:g.84115432G>C			82672933	A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	CCDS10941.1																																																																																				0.587	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		C	84115432	G	C	84115432	2	2	127	1	0	0	0	0	0	0	0	1	9361	1277	45	3		3	MBTPS1	16	84115432	Silent	SNP	G	TCGA-13-1412-01A-01W-0494-09		84115432	6239321	28	6954											
TP53	7157	genome.wustl.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	A	rs587782664		TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr17:7577570C>A	ENST00000269305.4	-	7	900	c.711G>T	c.(709-711)atG>atT	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	0.567		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"	139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	17	GRCh37	CM011014	TP53	M							130	102	112					17																	7577570		2203	4300	6503	7518295	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.711G>T	17.37:g.7577570C>A	ENSP00000269305:p.Met237Ile		7518295	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282984	0.80692	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	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	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577570	C	A	7577570	3	1	127	1	0	0	0	0	1	0	0	0	16381	478	17	3	579	3	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09		7577570	73617640	29	6955											
BRD4	23476	genome.wustl.edu	37	19	15376429	15376429	+	Silent	SNP	C	C	G	rs183675300		TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr19:15376429C>G	ENST00000263377.2	-	5	806	c.585G>C	c.(583-585)acG>acC	p.T195T	BRD4_ENST00000371835.4_Silent_p.T195T|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Silent_p.T195T	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	195					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.T195T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGTTTGGTACCGTGGAAACGC	0.567			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	2	Substitution - coding silent(2)	ovary(2)	19											293	291	292					19																	15376429		2203	4300	6503	15237429	SO:0001819	synonymous_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.585G>C	19.37:g.15376429C>G			15237429	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	CCDS12328.1																																																																																				0.567	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		G	15376429	C	G	15376429	2	3	127	1	0	0	0	0	0	0	0	1	1504	639	23	3		3	BRD4	19	15376429	Silent	SNP	C	TCGA-13-1412-01A-01W-0494-09		15376429	43752554	30	6956											
KIAA1755	85449	genome.wustl.edu	37	20	36841547	36841547	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr20:36841547C>G	ENST00000279024.4	-	14	3771	c.3500G>C	c.(3499-3501)aGc>aCc	p.S1167T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1167								p.S1167T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AGGGACCTGGCTCTGCCTGGG	0.642																																																1	Substitution - Missense(1)	ovary(1)	20											38	41	40					20																	36841547		2203	4300	6503	36274961	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3500G>C	20.37:g.36841547C>G	ENSP00000279024:p.Ser1167Thr		36274961	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521250	0.27211	.	.	ENSG00000149633	ENST00000279024	T	0.08370	3.1	5.14	2.16	0.27623	.	1.152160	0.06324	N	0.705042	T	0.08133	0.0203	L	0.38838	1.175	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.39099	-0.9630	10	0.72032	D	0.01	.	5.0113	0.14313	0.0:0.6412:0.1732:0.1857	.	1167	Q5JYT7	K1755_HUMAN	T	1167	ENSP00000279024:S1167T	ENSP00000279024:S1167T	S	-	2	0	KIAA1755	36274961	0.050000	0.20438	0.000000	0.03702	0.194000	0.23727	1.039000	0.30266	0.335000	0.23614	0.561000	0.74099	AGC		0.642	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		G	36841547	C	G	36841547	3	3	127	1	0	0	0	0	1	0	0	0	8257	797	28	3	106	3	KIAA1755	20	36841547	Missense_Mutation	SNP	C	TCGA-13-1412-01A-01W-0494-09		36841547	26183973	31	6957											
ZBP1	81030	genome.wustl.edu	37	20	56191346	56191346	+	Silent	SNP	A	A	C			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chr20:56191346A>C	ENST00000371173.3	-	2	390	c.213T>G	c.(211-213)acT>acG	p.T71T	ZBP1_ENST00000343535.4_Silent_p.T71T|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000541799.1_Silent_p.T71T|ZBP1_ENST00000340462.4_Silent_p.T71T	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	71					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.T71T(2)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTTCAGGATCAGTCCCGCCCA	0.612																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	20											117	106	110					20																	56191346		2203	4300	6503	55624752	SO:0001819	synonymous_variant	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.213T>G	20.37:g.56191346A>C			55624752	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	CCDS13461.1																																																																																				0.612	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		C	56191346	A	C	56191346	2	2	127	1	0	0	0	0	0	0	0	1	17521	175	7	5		5	ZBP1	20	56191346	Silent	SNP	A	TCGA-13-1412-01A-01W-0494-09	19349799	56191346	6834174	32	6958											
TLR8	51311	genome.wustl.edu	37	X	12938881	12938881	+	Silent	SNP	A	A	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chrX:12938881A>T	ENST00000218032.6	+	2	1809	c.1722A>T	c.(1720-1722)acA>acT	p.T574T	TLR8_ENST00000311912.5_Silent_p.T592T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	574					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.T592T(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CAGGCGTAACACATCATCTAG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	X											42	43	42					X																	12938881		2203	4297	6500	12848802	SO:0001819	synonymous_variant	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1722A>T	X.37:g.12938881A>T			12848802	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	CCDS14152.1																																																																																				0.328	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		T	12938881	A	T	12938881	2	4	127	1	0	0	0	0	0	0	0	1	15957	146	6	5		5	TLR8	23	12938881	Silent	SNP	A	TCGA-13-1412-01A-01W-0494-09		12938881	142331679	33	6959											
THOC2	57187	genome.wustl.edu	37	X	122760388	122760388	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chrX:122760388G>T	ENST00000245838.8	-	24	2914	c.2883C>A	c.(2881-2883)gaC>gaA	p.D961E	THOC2_ENST00000355725.4_Missense_Mutation_p.D961E|THOC2_ENST00000491737.1_Missense_Mutation_p.D846E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	961					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.D882E(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAAGCCAGTTGTCCTTTTCCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	X											183	158	166					X																	122760388		1840	4083	5923	122588069	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2883C>A	X.37:g.122760388G>T	ENSP00000245838:p.Asp961Glu		122588069	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.89|14.89	2.669780|2.669780	0.47677|0.47677	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	T;T;T|.	0.21191|.	2.02;2.02;2.02|.	5.83|5.83	4.86|4.86	0.63082|0.63082	THO complex, subunitTHOC2, C-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.49626|0.49626	0.1568|0.1568	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P|.	0.47191|.	0.891|.	P|.	0.53809|.	0.735|.	T|T	0.52049|0.52049	-0.8627|-0.8627	10|5	0.29301|.	T|.	0.29|.	-11.54|-11.54	3.2962|3.2962	0.06966|0.06966	0.4148:0.0:0.5851:0.0|0.4148:0.0:0.5851:0.0	.|.	961|.	Q8NI27|.	THOC2_HUMAN|.	E|K	961;961;846|34	ENSP00000245838:D961E;ENSP00000347959:D961E;ENSP00000419795:D846E|.	ENSP00000245838:D961E|.	D|Q	-|-	3|1	2|0	THOC2|THOC2	122588069|122588069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.599000|4.599000	0.61076|0.61076	2.460000|2.460000	0.83146|0.83146	0.600000|0.600000	0.82982|0.82982	GAC|CAA		0.378	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			T	122760388	G	T	122760388	3	4	127	1	0	0	0	0	1	0	0	0	15865	1368	48	3	1958	3	THOC2	23	122760388	Missense_Mutation	SNP	G	TCGA-13-1412-01A-01W-0494-09	109821507	122760388	32510172	34	6960											
IGSF1	3547	genome.wustl.edu	37	X	130408594	130408594	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chrX:130408594G>C	ENST00000361420.3	-	18	3809	c.3730C>G	c.(3730-3732)Ctg>Gtg	p.L1244V	IGSF1_ENST00000370903.3_Missense_Mutation_p.L1249V|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.L1235V|IGSF1_ENST00000370904.1_Missense_Mutation_p.L1235V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1244					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.L1244V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAGCTCCAGGGGATCACTA	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											133	124	127					X																	130408594		2203	4300	6503	130236275	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3730C>G	X.37:g.130408594G>C	ENSP00000355010:p.Leu1244Val		130236275	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115667	0.37339	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.42	2.72	0.32119	Immunoglobulin-like fold (1);	0.368253	0.19947	N	0.102505	T	0.25938	0.0632	M	0.66297	2.02	0.28186	N	0.927947	D;P;D	0.63046	0.983;0.756;0.992	D;P;D	0.76071	0.969;0.678;0.987	T	0.04165	-1.0972	10	0.51188	T	0.08	.	7.3046	0.26440	0.2846:0.0:0.7154:0.0	.	1235;688;1244	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	V	1235;1244;1235;1249	ENSP00000359947:L1235V;ENSP00000355010:L1244V;ENSP00000359941:L1235V;ENSP00000359940:L1249V	ENSP00000355010:L1244V	L	-	1	2	IGSF1	130236275	0.866000	0.29940	0.810000	0.32431	0.836000	0.47400	0.828000	0.27435	0.218000	0.20820	-0.199000	0.12753	CTG		0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			C	130408594	G	C	130408594	3	2	127	1	0	0	0	0	1	0	0	0	7596	991	35	3	292	3	IGSF1	23	130408594	Missense_Mutation	SNP	G	TCGA-13-1412-01A-01W-0494-09	7648206	130408594	24861966	35	6961											
CSAG1	158511	genome.wustl.edu	37	X	151909159	151909159	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chrX:151909159G>T	ENST00000370287.3	+	5	516	c.188G>T	c.(187-189)aGg>aTg	p.R63M	CSAG1_ENST00000452779.2_Missense_Mutation_p.R63M|CSAG1_ENST00000370291.2_3'UTR	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	63								p.R63M(1)		central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CAACCCAAAAGGGAAAAGGGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											96	98	97					X																	151909159		2203	4300	6503	151659815	SO:0001583	missense	158511			AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"cancer/testis antigen family 24, member 1"					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.188G>T	X.37:g.151909159G>T	ENSP00000359310:p.Arg63Met		151659815	A6NE22	Missense_Mutation	SNP	ENST00000370287.3	37	CCDS14711.1	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540614	0.13250	.	.	ENSG00000198930	ENST00000370287;ENST00000452779	T;T	0.45276	0.9;0.9	0.837	0.837	0.18896	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.61132	0.884	T	0.41179	-0.9523	7	0.87932	D	0	.	.	.	.	.	63	Q6PB30	CSAG1_HUMAN	M	63	ENSP00000359310:R63M;ENSP00000396520:R63M	ENSP00000359310:R63M	R	+	2	0	CSAG1	151659815	0.014000	0.17966	0.004000	0.12327	0.019000	0.09904	0.186000	0.16978	0.689000	0.31550	0.179000	0.17066	AGG		0.522	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2	NM_153479		T	151909159	G	T	151909159	3	4	127	1	0	0	0	0	1	0	0	0	3926	1000	35	3	198	3	CSAG1	23	151909159	Missense_Mutation	SNP	G	TCGA-13-1412-01A-01W-0494-09	21500565	151909159	3361401	36	6962											
IRAK1	3654	genome.wustl.edu	37	X	153284906	153284906	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chrX:153284906G>A	ENST00000369980.3	-	2	447	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	IRAK1_ENST00000369974.2_Missense_Mutation_p.R94C|IRAK1_ENST00000429936.2_Missense_Mutation_p.R120C|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000393687.2_Missense_Mutation_p.R94C|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393682.1_Missense_Mutation_p.R120C	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	94	Death.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.R94C(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCGCGCACGGAGCAGCTGC	0.741																																																1	Substitution - Missense(1)	ovary(1)	X											20	20	20					X																	153284906		2197	4292	6489	152938100	SO:0001583	missense	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.280C>T	X.37:g.153284906G>A	ENSP00000358997:p.Arg94Cys		152938100	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.	.	.	.	.	.	.	.	.	.	.	26.1	4.700632	0.88924	.	.	ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000444230;ENST00000393687;ENST00000429936	D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	4.47	4.47	0.54385	Death (1);DEATH-like (2);	0.301498	0.23656	N	0.045864	D	0.89938	0.6860	L	0.49778	1.585	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	D	0.91102	0.4915	10	0.87932	D	0	-14.1656	15.0964	0.72238	0.0:0.0:1.0:0.0	.	120;94;94;94	D3YTB5;P51617-4;P51617;P51617-2	.;.;IRAK1_HUMAN;.	C	94;94;120;90;94;120	ENSP00000358997:R94C;ENSP00000358991:R94C;ENSP00000377287:R120C;ENSP00000399974:R90C;ENSP00000377291:R94C;ENSP00000392662:R120C	ENSP00000358990:R120C	R	-	1	0	IRAK1	152938100	0.999000	0.42202	0.924000	0.36721	0.953000	0.61014	3.747000	0.55134	1.795000	0.52594	0.377000	0.23210	CGT		0.741	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			A	153284906	G	A	153284906	3	1	127	1	0	0	0	0	1	0	0	0	7821	1116	39	1	1910	1	IRAK1	23	153284906	Missense_Mutation	SNP	G	TCGA-13-1412-01A-01W-0494-09	1375747	153284906	1985654	37	6963											
CLIC2	1193	genome.wustl.edu	37	X	154528097	154528097	+	Splice_Site	SNP	C	C	T			TCGA-13-1412-01A-01W-0494-09	TCGA-13-1412-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f7edafe2-3eab-4bac-9d25-ed5c223b4aee	5a0d7652-a220-484b-a156-29cb40d211d3	g.chrX:154528097C>T	ENST00000369449.2	-	3	512		c.e3+1		CLIC2_ENST00000465553.1_Splice_Site	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2						chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAATGCTGTACCTTGGAGGAG	0.358																																					Melanoma(108;581 1592 2289 21669 28822)											1	Unknown(1)	ovary(1)	X											86	84	85					X																	154528097		2203	4300	6503	154181291	SO:0001630	splice_region_variant	1193			AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"Ion channels / Chloride channels : Intracellular"	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.293+1G>A	X.37:g.154528097C>T			154181291	A8K9S0|O15174|Q5JT80|Q8TCE3	Splice_Site	SNP	ENST00000369449.2	37	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010059	0.54361	.	.	ENSG00000155962	ENST00000369449	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6006	0.45365	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIC2	154181291	1.000000	0.71417	0.999000	0.59377	0.728000	0.41692	7.114000	0.77103	2.262000	0.75019	0.415000	0.27848	.		0.358	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289	Intron	T	154528097	C	T	154528097	5	4	127	1	0	0	0	0	0	0	1	0	3526	521	18	2	465	2	CLIC2	23	154528097	Splice_Site	SNP	C	TCGA-13-1412-01A-01W-0494-09	1243191	154528097	742463	38	6964											
RYR2	6262	broad.mit.edu	37	1	237494210	237494210	+	Silent	SNP	T	T	C			TCGA-13-1477-01A-01D-0472-08	TCGA-13-1477-10A-01D-0472-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	cacf081d-2c59-46a6-8c34-a5570f4d2529	e538c39f-7fdd-4528-8186-e1a7ee52d6a2	g.chr1:237494210T>C	ENST00000366574.2	+	3	518	c.201T>C	c.(199-201)ttT>ttC	p.F67F	RYR2_ENST00000542537.1_Silent_p.F51F|RYR2_ENST00000360064.6_Missense_Mutation_p.L65S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	67					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L65S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGCACCTTTGTGCTGGAGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											88	92	91					1																	237494210		2065	4237	6302	235560833	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.201T>C	1.37:g.237494210T>C			235560833	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.673070	0.29693	.	.	ENSG00000198626	ENST00000360064	D	0.96802	-4.13	5.26	-2.91	0.05631	.	0.887861	0.08909	U	0.876159	D	0.96466	0.8847	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.92757	0.6221	7	0.66056	D	0.02	.	11.541	0.50667	0.0:0.4818:0.0:0.5182	.	.	.	.	S	65	ENSP00000353174:L65S	ENSP00000353174:L65S	L	+	2	0	RYR2	235560833	1.000000	0.71417	0.982000	0.44146	0.651000	0.38670	0.928000	0.28831	-0.606000	0.05746	-1.167000	0.01749	TTG		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237494210	T	C	237494210	2	2	128	1	0	0	0	0	0	0	0	1	13772	1809	63	4		4	RYR2	1	237494210	Silent	SNP	T	TCGA-13-1477-01A-01D-0472-08		237494210	11756411	1	6965											
LIFR	3977	broad.mit.edu	37	5	38510652	38510652	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1477-01A-01D-0472-08	TCGA-13-1477-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	cacf081d-2c59-46a6-8c34-a5570f4d2529	e538c39f-7fdd-4528-8186-e1a7ee52d6a2	g.chr5:38510652C>T	ENST00000263409.4	-	7	1067	c.905G>A	c.(904-906)cGt>cAt	p.R302H	LIFR_ENST00000453190.2_Missense_Mutation_p.R302H|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	302					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.R302H(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGAAATATTACGAATCTTGAT	0.353			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	1	Substitution - Missense(1)	ovary(1)	5											97	89	92					5																	38510652		2203	4300	6503	38546409	SO:0001583	missense	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.905G>A	5.37:g.38510652C>T	ENSP00000263409:p.Arg302His		38546409	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	5.113	0.206567	0.09704	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.62788	-0.0;-0.0	5.65	-1.01	0.10169	.	1.909190	0.01972	N	0.044143	T	0.36468	0.0968	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14559	-1.0468	10	0.30078	T	0.28	-0.0041	4.3258	0.11039	0.1613:0.3693:0.0:0.4694	.	302	P42702	LIFR_HUMAN	H	302	ENSP00000263409:R302H;ENSP00000398368:R302H	ENSP00000263409:R302H	R	-	2	0	LIFR	38546409	0.049000	0.20398	0.002000	0.10522	0.818000	0.46254	-0.022000	0.12480	-0.390000	0.07774	-0.238000	0.12139	CGT		0.353	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		T	38510652	C	T	38510652	3	4	128	1	0	0	0	0	1	0	0	0	8780	536	19	1	2444	1	LIFR	5	38510652	Missense_Mutation	SNP	C	TCGA-13-1477-01A-01D-0472-08		38510652	142404608	2	6966											
ENPP4	22875	broad.mit.edu	37	6	46108111	46108111	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1477-01A-01D-0472-08	TCGA-13-1477-10A-01D-0472-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	cacf081d-2c59-46a6-8c34-a5570f4d2529	e538c39f-7fdd-4528-8186-e1a7ee52d6a2	g.chr6:46108111A>C	ENST00000321037.4	+	2	1021	c.791A>C	c.(790-792)gAt>gCt	p.D264A		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	264					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.D264A(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ACTCTTATAGATTTGAGCCCA	0.413																																																1	Substitution - Missense(1)	ovary(1)	6											80	80	80					6																	46108111		2203	4300	6503	46216070	SO:0001583	missense	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.791A>C	6.37:g.46108111A>C	ENSP00000318066:p.Asp264Ala		46216070	A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163302	0.78226	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.73897	-0.79	5.67	5.67	0.87782	Alkaline-phosphatase-like, core domain (1);	0.043265	0.85682	D	0.000000	D	0.83806	0.5334	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85310	0.1078	10	0.51188	T	0.08	-30.0074	15.9204	0.79562	1.0:0.0:0.0:0.0	.	264	Q9Y6X5	ENPP4_HUMAN	A	264	ENSP00000318066:D264A	ENSP00000318066:D264A	D	+	2	0	ENPP4	46216070	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.711000	0.91396	2.164000	0.68074	0.533000	0.62120	GAT		0.413	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			C	46108111	A	C	46108111	3	2	128	1	0	0	0	0	1	0	0	0	5132	333	12	5	793	5	ENPP4	6	46108111	Missense_Mutation	SNP	A	TCGA-13-1477-01A-01D-0472-08		46108111	125006956	3	6967											
DSCAML1	57453	broad.mit.edu	37	11	117352737	117352737	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1477-01A-01D-0472-08	TCGA-13-1477-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	cacf081d-2c59-46a6-8c34-a5570f4d2529	e538c39f-7fdd-4528-8186-e1a7ee52d6a2	g.chr11:117352737C>T	ENST00000321322.6	-	12	2681	c.2680G>A	c.(2680-2682)Gtc>Atc	p.V894I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V624I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	834	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.V894I(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TACCGCATGACGCGGTCAGGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	11											171	118	136					11																	117352737		2201	4296	6497	116857947	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2680G>A	11.37:g.117352737C>T	ENSP00000315465:p.Val894Ile		116857947	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	5.679	0.309873	0.10733	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60040	0.24;0.22	3.89	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30572	0.0769	N	0.08118	0	0.31032	N	0.717317	P	0.35456	0.502	B	0.33568	0.166	T	0.23368	-1.0190	9	0.21540	T	0.41	.	5.005	0.14284	0.0:0.6024:0.0:0.3976	.	834	Q8TD84	DSCL1_HUMAN	I	624;894;601	ENSP00000434335:V624I;ENSP00000315465:V894I	ENSP00000315465:V894I	V	-	1	0	DSCAML1	116857947	1.000000	0.71417	0.839000	0.33178	0.097000	0.18754	4.880000	0.63107	0.845000	0.35118	-0.443000	0.05667	GTC		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117352737	C	T	117352737	3	4	128	1	0	0	0	0	1	0	0	0	4769	536	19	1	3749	1	DSCAML1	11	117352737	Missense_Mutation	SNP	C	TCGA-13-1477-01A-01D-0472-08		117352737	17653779	4	6968											
NLRP4	147945	broad.mit.edu	37	19	56370018	56370018	+	Missense_Mutation	SNP	G	G	A	rs142191212		TCGA-13-1477-01A-01D-0472-08	TCGA-13-1477-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	cacf081d-2c59-46a6-8c34-a5570f4d2529	e538c39f-7fdd-4528-8186-e1a7ee52d6a2	g.chr19:56370018G>A	ENST00000301295.6	+	3	1681	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	NLRP4_ENST00000587891.1_Missense_Mutation_p.R345Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.R420Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	420	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R420Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACGACCTCCGGAGAAATGGG	0.582													G|||	1	0.000199681	0	0	5008	,	,		18797	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19						G	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	109	107	108		1259	3	0.1	19	dbSNP_134	108	0,8600		0,0,4300	no	missense	NLRP4	NM_134444.4	43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	420/995	56370018	3,13003	2203	4300	6503	61061830	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1259G>A	19.37:g.56370018G>A	ENSP00000301295:p.Arg420Gln		61061830	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251932	0.59212	6.81E-4	0.0	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83914	-1.78;-1.78	4.09	3.05	0.35203	.	.	.	.	.	D	0.88489	0.6450	M	0.70108	2.13	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.72075	0.976;0.935;0.851	T	0.77208	-0.2672	9	0.56958	D	0.05	.	8.1481	0.31124	0.1113:0.0:0.8887:0.0	.	420;345;420	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Q	420	ENSP00000301295:R420Q;ENSP00000344787:R420Q	ENSP00000301295:R420Q	R	+	2	0	NLRP4	61061830	0.000000	0.05858	0.063000	0.19743	0.016000	0.09150	-0.156000	0.10100	1.078000	0.41014	-0.128000	0.14901	CGG		0.582	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56370018	G	A	56370018	3	1	128	1	0	0	0	0	1	0	0	0	10479	1116	39	1	1265	1	NLRP4	19	56370018	Missense_Mutation	SNP	G	TCGA-13-1477-01A-01D-0472-08		56370018	2758965	5	6969											
KAZ	23254	genome.wustl.edu	37	1	15392125	15392125	+	Splice_Site	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:15392125G>T	ENST00000376030.2	+	8	1392		c.e8-1		KAZN_ENST00000422387.2_Splice_Site|KAZN_ENST00000361144.5_Splice_Site|KAZN_ENST00000400797.3_Splice_Site|KAZN_ENST00000503743.1_Splice_Site|KAZN_ENST00000400798.2_Splice_Site	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein						keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGACTCCTCAGTCACTAGAGG	0.557																																																2	Unknown(2)	ovary(2)	1											60	69	66					1																	15392125		2203	4300	6503	15264712	SO:0001630	splice_region_variant	23254			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1099-1G>T	1.37:g.15392125G>T			15264712	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Splice_Site	SNP	ENST00000376030.2	37	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774442	0.70107	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1442	0.86762	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAZN	15264712	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.193000	0.94954	2.284000	0.76573	0.305000	0.20034	.		0.557	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	Intron	T	15392125	G	T	15392125	5	4	129	1	0	0	0	0	0	0	1	0	7988	1043	36	3	1340	3	KAZ	1	15392125	Splice_Site	SNP	G	TCGA-13-1481-01A-01W-0549-09		15392125	233858496	1	6970											
UBR4	23352	genome.wustl.edu	37	1	19480386	19480386	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:19480386T>G	ENST00000375254.3	-	45	6533	c.6506A>C	c.(6505-6507)gAg>gCg	p.E2169A	UBR4_ENST00000375217.2_Missense_Mutation_p.E2169A|UBR4_ENST00000375267.2_Missense_Mutation_p.E2169A|UBR4_ENST00000375226.2_Missense_Mutation_p.E2169A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2169					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2169A(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTTCATCACCTCAGACCACTG	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											100	93	95					1																	19480386		2203	4300	6503	19352973	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6506A>C	1.37:g.19480386T>G	ENSP00000364403:p.Glu2169Ala		19352973	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860021	0.91433	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.35048	1.36;1.36;1.36;1.33	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.65975	2.015	0.80722	D	1	D;P	0.89917	1.0;0.956	D;D	0.85130	0.997;0.931	T	0.62267	-0.6890	10	0.87932	D	0	.	14.6112	0.68517	0.0:0.0:0.0:1.0	.	2170;2169	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	A	2169;2169;2169;2169;879;1386	ENSP00000364403:E2169A;ENSP00000364416:E2169A;ENSP00000364365:E2169A;ENSP00000364374:E2169A	ENSP00000364365:E2169A	E	-	2	0	UBR4	19352973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.330000	0.79181	2.243000	0.73865	0.482000	0.46254	GAG		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19480386	T	G	19480386	3	3	129	1	0	0	0	0	1	0	0	0	16904	1551	54	5	9293	5	UBR4	1	19480386	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	4088261	19480386	229770235	2	6971											
DLGAP3	58512	genome.wustl.edu	37	1	35332721	35332721	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:35332721G>C	ENST00000373347.1	-	11	2917	c.2649C>G	c.(2647-2649)atC>atG	p.I883M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.I883M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	883					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.I883M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCACATCCTCGATGGAGAGCT	0.582											OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											110	113	112					1																	35332721		2203	4300	6503	35105308	SO:0001583	missense	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2649C>G	1.37:g.35332721G>C	ENSP00000362444:p.Ile883Met	854	35105308	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467511	0.63625	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.27104	1.69;1.69	4.91	-4.26	0.03755	.	0.104471	0.64402	D	0.000005	T	0.45756	0.1358	M	0.88775	2.98	0.48135	D	0.999598	D	0.76494	0.999	D	0.72982	0.979	T	0.49790	-0.8902	10	0.87932	D	0	-1.2981	6.4896	0.22107	0.606:0.0:0.1726:0.2215	.	883	O95886	DLGP3_HUMAN	M	883;883;221	ENSP00000362444:I883M;ENSP00000235180:I883M	ENSP00000235180:I883M	I	-	3	3	DLGAP3	35105308	0.013000	0.17824	0.967000	0.41034	0.996000	0.88848	-0.942000	0.03921	-0.695000	0.05105	-0.145000	0.13849	ATC		0.582	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		C	35332721	G	C	35332721	3	2	129	1	0	0	0	0	1	0	0	0	4561	1048	37	3	298	3	DLGAP3	1	35332721	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	15852335	35332721	213917900	3	6972											
NTNG1	22854	genome.wustl.edu	37	1	107867515	107867515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:107867515C>G	ENST00000370068.1	+	3	1704	c.858C>G	c.(856-858)taC>taG	p.Y286*	NTNG1_ENST00000370070.2_Nonsense_Mutation_p.Y286*|NTNG1_ENST00000370065.1_Nonsense_Mutation_p.Y286*|NTNG1_ENST00000542803.1_Nonsense_Mutation_p.Y286*|NTNG1_ENST00000370066.1_Nonsense_Mutation_p.Y286*|NTNG1_ENST00000370067.1_Nonsense_Mutation_p.Y286*|NTNG1_ENST00000370071.2_Nonsense_Mutation_p.Y286*|NTNG1_ENST00000370072.3_Nonsense_Mutation_p.Y286*|NTNG1_ENST00000370073.2_Nonsense_Mutation_p.Y286*|NTNG1_ENST00000370074.4_Nonsense_Mutation_p.Y286*|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370061.3_Nonsense_Mutation_p.Y286*			Q9Y2I2	NTNG1_HUMAN	netrin G1	286	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.Y286*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GCTACTTTTACGCGATCTCAG	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	1											62	64	63					1																	107867515		2203	4298	6501	107669038	SO:0001587	stop_gained	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.858C>G	1.37:g.107867515C>G	ENSP00000359085:p.Tyr286*		107669038	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Nonsense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	41	8.754386	0.98941	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	.	.	.	6.05	-1.29	0.09288	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9886	0.47537	0.0:0.2295:0.0:0.7705	.	.	.	.	X	286;286;286;286;286;286;286;286;47;47;286;286;286;286;286;286	.	ENSP00000294649:Y286X	Y	+	3	2	NTNG1	107669038	0.715000	0.27946	0.986000	0.45419	0.999000	0.98932	-0.131000	0.10482	-0.095000	0.12351	0.655000	0.94253	TAC		0.458	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		G	107867515	C	G	107867515	4	3	129	1	0	0	0	0	0	1	0	0	10704	547	19	3	864	3	NTNG1	1	107867515	Nonsense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	72534794	107867515	141383106	4	6973											
RBM15	64783	genome.wustl.edu	37	1	110888225	110888225	+	Silent	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:110888225G>A	ENST00000369784.3	+	2	3828	c.2928G>A	c.(2926-2928)ctG>ctA	p.L976L	RBM15_ENST00000487146.2_Intron	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	976					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L976L(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGCTGACCCTGTTATAGTGGT	0.373			T	MKL1	acute megakaryocytic leukemia																																		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	1	Substitution - coding silent(1)	ovary(1)	1											213	236	228					1																	110888225		2203	4300	6503	110689748	SO:0001819	synonymous_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2928G>A	1.37:g.110888225G>A			110689748	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	CCDS822.1																																																																																				0.373	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		A	110888225	G	A	110888225	2	1	129	1	0	0	0	0	0	0	0	1	13119	1364	48	2		2	RBM15	1	110888225	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09	3020710	110888225	138362396	5	6974											
C1orf183	55924	genome.wustl.edu	37	1	112270206	112270206	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:112270206G>C	ENST00000357260.5	-	2	459	c.278C>G	c.(277-279)cCc>cGc	p.P93R	FAM212B_ENST00000534365.1_Missense_Mutation_p.P93R|FAM212B_ENST00000444059.2_Missense_Mutation_p.P78R	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	93								p.P93R(1)		cervix(1)|endometrium(1)	2						TTGACTGGAGGGGGAACAGAC	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											86	81	83					1																	112270206		2203	4300	6503	112071729	SO:0001583	missense	55924			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 183"	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.278C>G	1.37:g.112270206G>C	ENSP00000349805:p.Pro93Arg		112071729	B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	CCDS841.1	.	.	.	.	.	.	.	.	.	.	G	7.719	0.696794	0.15106	.	.	ENSG00000197852	ENST00000357260;ENST00000534365;ENST00000444059;ENST00000527621	.	.	.	4.5	3.57	0.40892	.	0.179966	0.48767	D	0.000161	T	0.26340	0.0643	L	0.58810	1.83	0.09310	N	1	B;B	0.21520	0.057;0.033	B;B	0.21360	0.034;0.034	T	0.30966	-0.9960	9	0.72032	D	0.01	-11.7755	11.5791	0.50881	0.0899:0.0:0.9101:0.0	.	78;93	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	R	93;93;78;102	.	ENSP00000349805:P93R	P	-	2	0	C1orf183	112071729	0.145000	0.22656	0.009000	0.14445	0.019000	0.09904	1.267000	0.33050	1.057000	0.40506	0.491000	0.48974	CCC		0.612	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		C	112270206	G	C	112270206	3	2	129	1	0	0	0	0	1	0	0	0	2019	1232	43	3	619	3	C1orf183	1	112270206	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	1381981	112270206	136980415	6	6975											
AP4B1	10717	genome.wustl.edu	37	1	114444379	114444379	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:114444379A>C	ENST00000369569.1	-	3	747	c.467T>G	c.(466-468)gTa>gGa	p.V156G	AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Missense_Mutation_p.V156G|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	156					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.V156G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACTTACCTACTTCAGAGTC	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											143	125	131					1																	114444379		2203	4300	6503	114245902	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.467T>G	1.37:g.114444379A>C	ENSP00000358582:p.Val156Gly		114245902	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.629956	0.67015	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369564;ENST00000369571	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.36	4.24	0.50183	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.055499	0.64402	D	0.000001	T	0.14743	0.0356	L	0.47016	1.485	0.80722	D	1	D	0.54601	0.967	P	0.47015	0.534	T	0.02190	-1.1198	10	0.30854	T	0.27	-9.4721	11.3059	0.49334	0.9284:0.0:0.0716:0.0	.	156	Q9Y6B7	AP4B1_HUMAN	G	156;156;81;156	ENSP00000358582:V156G;ENSP00000256658:V156G;ENSP00000358577:V81G;ENSP00000358584:V156G	ENSP00000256658:V156G	V	-	2	0	AP4B1	114245902	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.108000	0.89559	0.982000	0.38575	-0.250000	0.11733	GTA		0.418	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		C	114444379	A	C	114444379	3	2	129	1	0	0	0	0	1	0	0	0	751	391	14	5	1784	5	AP4B1	1	114444379	Missense_Mutation	SNP	A	TCGA-13-1481-01A-01W-0549-09	2174173	114444379	134806242	7	6976											
HIPK1	204851	genome.wustl.edu	37	1	114483215	114483215	+	Nonsense_Mutation	SNP	C	C	G	rs370037970		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:114483215C>G	ENST00000369558.1	+	2	442	c.210C>G	c.(208-210)taC>taG	p.Y70*	HIPK1_ENST00000369561.4_Nonsense_Mutation_p.Y70*|HIPK1_ENST00000369555.2_Nonsense_Mutation_p.Y70*|HIPK1_ENST00000426820.2_Nonsense_Mutation_p.Y70*|HIPK1_ENST00000369554.2_Nonsense_Mutation_p.Y70*|HIPK1_ENST00000369559.4_Nonsense_Mutation_p.Y70*			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	70					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y70*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCTGCTTACGACCAGGGCC	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	1											153	153	153					1																	114483215		2203	4300	6503	114284738	SO:0001587	stop_gained	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.210C>G	1.37:g.114483215C>G	ENSP00000358571:p.Tyr70*		114284738	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Nonsense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729510	0.69074	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	.	.	.	5.22	4.31	0.51392	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9612	0.47387	0.0:0.85:0.0:0.15	.	.	.	.	X	141;70;70;70;70;70;70;70;70	.	ENSP00000358567:Y70X	Y	+	3	2	HIPK1	114284738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.208000	0.32345	1.194000	0.43101	0.650000	0.86243	TAC		0.532	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		G	114483215	C	G	114483215	4	3	129	1	0	0	0	0	0	1	0	0	7116	547	19	3	212	3	HIPK1	1	114483215	Nonsense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	38836	114483215	134767406	8	6977											
FLG2	388698	genome.wustl.edu	37	1	152325901	152325901	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:152325901T>C	ENST00000388718.5	-	3	4433	c.4361A>G	c.(4360-4362)cAt>cGt	p.H1454R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1454					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1454R(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTCTCCATGTTGAGATCC	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											398	356	370					1																	152325901		2203	4300	6503	150592525	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4361A>G	1.37:g.152325901T>C	ENSP00000373370:p.His1454Arg		150592525	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	8.628	0.893008	0.17613	.	.	ENSG00000143520	ENST00000388718	T	0.28666	1.6	3.53	2.35	0.29111	.	.	.	.	.	T	0.09555	0.0235	L	0.60845	1.875	0.09310	N	1	B	0.34103	0.437	B	0.29862	0.108	T	0.27226	-1.0080	9	0.15952	T	0.53	-0.1859	7.2572	0.26183	0.0:0.0:0.2269:0.7731	.	1454	Q5D862	FILA2_HUMAN	R	1454	ENSP00000373370:H1454R	ENSP00000373370:H1454R	H	-	2	0	FLG2	150592525	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	0.336000	0.19823	0.519000	0.28406	0.246000	0.17985	CAT		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152325901	T	C	152325901	3	2	129	1	0	0	0	0	1	0	0	0	5923	1464	51	4	2818	4	FLG2	1	152325901	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	37842686	152325901	96924720	9	6978											
IGSF9	57549	genome.wustl.edu	37	1	159900062	159900062	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:159900062G>A	ENST00000368094.1	-	15	2178	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R645W	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	661	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R645W(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGCCTTGCCGGCCTTCCAAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											80	87	84					1																	159900062		2203	4300	6503	158166686	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1981C>T	1.37:g.159900062G>A	ENSP00000357073:p.Arg661Trp		158166686		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058372	0.55325	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.58652	0.32;0.32	5.15	0.754	0.18410	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39210	N	0.001433	T	0.59582	0.2204	M	0.70595	2.14	0.35237	D	0.777449	D	0.89917	1.0	D	0.97110	1.0	T	0.61118	-0.7127	9	.	.	.	-20.5484	9.0499	0.36369	0.0:0.1344:0.451:0.4146	.	661	Q9P2J2	TUTLA_HUMAN	W	645;661	ENSP00000355049:R645W;ENSP00000357073:R661W	.	R	-	1	2	IGSF9	158166686	0.875000	0.30112	0.239000	0.24122	0.871000	0.50021	1.074000	0.30703	0.161000	0.19458	0.555000	0.69702	CGG		0.642	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		A	159900062	G	A	159900062	3	1	129	1	0	0	0	0	1	0	0	0	7605	1115	39	1	1586	1	IGSF9	1	159900062	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	7574161	159900062	89350559	10	6979											
KCNT2	343450	genome.wustl.edu	37	1	196367692	196367692	+	Splice_Site	SNP	C	C	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:196367692C>T	ENST00000294725.9	-	13	2210		c.e13+1		KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site|KCNT2_ENST00000498426.1_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAAAAACTTACCAGCAAATTT	0.348																																																1	Unknown(1)	ovary(1)	1											49	50	50					1																	196367692		2201	4298	6499	194634315	SO:0001630	splice_region_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1294+1G>A	1.37:g.196367692C>T			194634315	Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729535	0.89390	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8961	0.92424	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194634315	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.545000	0.82128	2.629000	0.89072	0.585000	0.79938	.		0.348	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Intron	T	196367692	C	T	196367692	5	4	129	1	0	0	0	0	0	0	1	0	8092	521	18	2	2176	2	KCNT2	1	196367692	Splice_Site	SNP	C	TCGA-13-1481-01A-01W-0549-09	36467630	196367692	52882929	11	6980											
AHCTF1	25909	genome.wustl.edu	37	1	247014367	247014367	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr1:247014367A>T	ENST00000391829.2	-	33	5064	c.4941T>A	c.(4939-4941)agT>agA	p.S1647R	AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1656R|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.S1682R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1647	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1647R(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACTTTTGGTCACTAGTTACGG	0.358																																					Colon(145;197 1800 4745 15099 26333)											1	Substitution - Missense(1)	ovary(1)	1											117	115	116					1																	247014367		2203	4300	6503	245080990	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4941T>A	1.37:g.247014367A>T	ENSP00000375705:p.Ser1647Arg		245080990	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	A	13.20	2.166058	0.38217	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.35605	1.3;1.31;1.31	5.95	2.39	0.29439	.	0.338343	0.32918	N	0.005491	T	0.49779	0.1577	M	0.64997	1.995	0.29814	N	0.831396	D;D;P	0.71674	0.998;0.96;0.933	D;P;P	0.69142	0.962;0.684;0.486	T	0.47058	-0.9146	10	0.33940	T	0.23	-5.0371	8.8218	0.35030	0.7934:0.0:0.2066:0.0	.	508;1682;1647	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	R	1682;1656;1647	ENSP00000355464:S1682R;ENSP00000355465:S1656R;ENSP00000375705:S1647R	ENSP00000355465:S1656R	S	-	3	2	AHCTF1	245080990	0.996000	0.38824	0.506000	0.27664	0.461000	0.32589	2.030000	0.41108	0.158000	0.19367	0.533000	0.62120	AGT		0.358	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		T	247014367	A	T	247014367	3	4	129	1	0	0	0	0	1	0	0	0	408	156	6	5	1875	5	AHCTF1	1	247014367	Missense_Mutation	SNP	A	TCGA-13-1481-01A-01W-0549-09	50646675	247014367	2236254	12	6981											
MYT1L	23040	genome.wustl.edu	37	2	1926084	1926084	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:1926084T>A	ENST00000399161.2	-	10	2204	c.1457A>T	c.(1456-1458)cAt>cTt	p.H486L	MYT1L_ENST00000428368.2_Missense_Mutation_p.H486L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	486					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H486L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTTTGACATGGCTGTCACT	0.463																																																1	Substitution - Missense(1)	ovary(1)	2											130	121	124					2																	1926084		1930	4129	6059	1905091	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1457A>T	2.37:g.1926084T>A	ENSP00000382114:p.His486Leu		1905091	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	T	10.86	1.469342	0.26423	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.44083	0.94;0.93	5.91	3.47	0.39725	.	0.289069	0.39909	N	0.001227	T	0.23451	0.0567	N	0.24115	0.695	0.47949	D	0.999553	P;B	0.36483	0.555;0.355	B;B	0.33799	0.17;0.107	T	0.03503	-1.1030	10	0.10636	T	0.68	-34.027	9.4351	0.38635	0.1208:0.0:0.127:0.7523	.	486;486	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	486;434;486	ENSP00000382114:H486L;ENSP00000396103:H486L	ENSP00000295067:H434L	H	-	2	0	MYT1L	1905091	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	4.408000	0.59761	0.457000	0.26962	-0.316000	0.08728	CAT		0.463	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		A	1926084	T	A	1926084	3	1	129	1	0	0	0	0	1	0	0	0	10107	1464	51	5	2161	5	MYT1L	2	1926084	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09		1926084	241273289	13	6982											
MYT1L	23040	genome.wustl.edu	37	2	1926830	1926830	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:1926830A>C	ENST00000399161.2	-	10	1458	c.711T>G	c.(709-711)agT>agG	p.S237R	MYT1L_ENST00000428368.2_Missense_Mutation_p.S237R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	237					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S237R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGTTTTTGTCACTATCGTCTT	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											160	149	153					2																	1926830		1911	4126	6037	1905837	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.711T>G	2.37:g.1926830A>C	ENSP00000382114:p.Ser237Arg		1905837	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	A	7.274	0.607692	0.14002	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.51071	0.72;0.72	6.07	-9.0	0.00747	.	0.402882	0.32533	N	0.005969	T	0.29783	0.0744	L	0.27053	0.805	0.27607	N	0.948796	P;B	0.34462	0.454;0.052	B;B	0.32805	0.153;0.018	T	0.01428	-1.1357	10	0.37606	T	0.19	-14.0431	20.2159	0.98296	0.7744:0.0:0.2256:0.0	.	237;237	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	R	237;185;237	ENSP00000382114:S237R;ENSP00000396103:S237R	ENSP00000295067:S185R	S	-	3	2	MYT1L	1905837	0.018000	0.18449	0.007000	0.13788	0.059000	0.15707	-0.665000	0.05286	-1.791000	0.01261	-0.904000	0.02843	AGT		0.448	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		C	1926830	A	C	1926830	3	2	129	1	0	0	0	0	1	0	0	0	10107	156	6	5	2907	5	MYT1L	2	1926830	Missense_Mutation	SNP	A	TCGA-13-1481-01A-01W-0549-09	746	1926830	241272543	14	6983											
ITSN2	50618	genome.wustl.edu	37	2	24433676	24433676	+	Silent	SNP	C	C	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:24433676C>T	ENST00000355123.4	-	34	4673	c.4230G>A	c.(4228-4230)gcG>gcA	p.A1410A	ITSN2_ENST00000361999.3_Silent_p.A1383A	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1410					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.A1409A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCACGTGCGCCTGGATCC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	2											81	70	74					2																	24433676		2203	4300	6503	24287180	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4230G>A	2.37:g.24433676C>T			24287180	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																				0.637	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		T	24433676	C	T	24433676	2	4	129	1	0	0	0	0	0	0	0	1	7927	755	27	1		1	ITSN2	2	24433676	Silent	SNP	C	TCGA-13-1481-01A-01W-0549-09	22506846	24433676	218765697	15	6984											
CAD	51374	genome.wustl.edu	37	2	27440863	27440863	+	IGR	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:27440863G>C	ENST00000606999.1	+	0	956				CAD_ENST00000403525.1_Missense_Mutation_p.M67I|CAD_ENST00000264705.4_Missense_Mutation_p.M67I	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.M67I(1)									CAGATGAAATGGATGAGTTCG	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											101	89	93					2																	27440863		2203	4300	6503	27294367	SO:0001628	intergenic_variant	790			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"apoptosis-related protein 3"		"chromosome 2 open reading frame 28"	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405		2.37:g.27440863G>C			27294367	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37		.	.	.	.	.	.	.	.	.	.	G	13.30	2.196040	0.38806	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98207	-4.79;-4.74	4.98	4.08	0.47627	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	1.038250	0.07619	N	0.926670	D	0.93194	0.7832	N	0.03016	-0.435	0.25994	N	0.982205	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	D	0.84395	0.0557	10	0.25106	T	0.35	1.1598	12.5543	0.56244	0.0833:0.0:0.9167:0.0	.	67;67	F8VPD4;P27708	.;PYR1_HUMAN	I	67	ENSP00000264705:M67I;ENSP00000384510:M67I	ENSP00000264705:M67I	M	+	3	0	CAD	27294367	0.837000	0.29446	0.986000	0.45419	0.945000	0.59286	0.940000	0.28992	2.590000	0.87494	0.430000	0.28490	ATG		0.498	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		C	27440863	G	C	27440863	1	2	129	0	1	0	0	0	0	0	0	0	2565	1348	47	3		3	CAD	2	27440863	IGR	SNP	G	TCGA-13-1481-01A-01W-0549-09	3007187	27440863	215758510	16	6985											
GTF2A1L	11036	genome.wustl.edu	37	2	48873704	48873704	+	Silent	SNP	A	A	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:48873704A>G	ENST00000403751.3	+	6	538	c.501A>G	c.(499-501)gtA>gtG	p.V167V	LHCGR_ENST00000420913.3_5'UTR|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V871V|GTF2A1L_ENST00000430487.2_Silent_p.V133V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V871V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V871V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V824V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V871V	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	167					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.V871V(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCCTTCAGTAATACAAACTA	0.413																																																1	Substitution - coding silent(1)	ovary(1)	2											99	98	98					2																	48873704		2203	4300	6503	48727208	SO:0001819	synonymous_variant	11036			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"TFIIA alpha/beta like factor"	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.501A>G	2.37:g.48873704A>G			48727208	B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	CCDS46281.1																																																																																				0.413	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		G	48873704	A	G	48873704	2	3	129	1	0	0	0	0	0	0	0	1	6853	349	13	4		4	GTF2A1L	2	48873704	Silent	SNP	A	TCGA-13-1481-01A-01W-0549-09	21432841	48873704	194325669	17	6986											
CCDC88A	55704	genome.wustl.edu	37	2	55589505	55589505	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:55589505A>G	ENST00000436346.1	-	7	1407	c.566T>C	c.(565-567)cTc>cCc	p.L189P	CCDC88A_ENST00000413716.2_Missense_Mutation_p.L189P|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L189P|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L189P	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	189					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.L189P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATTTTTCAAGAGTGGTTCTAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											106	103	104					2																	55589505		2203	4300	6503	55443009	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.566T>C	2.37:g.55589505A>G	ENSP00000410608:p.Leu189Pro		55443009	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	A	18.59	3.656351	0.67586	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	4.72	3.56	0.40772	.	0.000000	0.39210	U	0.001434	T	0.39436	0.1078	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.983;0.992	D;P;P	0.73708	0.981;0.851;0.843	T	0.18524	-1.0334	10	0.62326	D	0.03	-2.6162	10.3114	0.43710	0.921:0.0:0.079:0.0	.	189;189;189	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	P	189;189;189;189;114	ENSP00000338728:L189P;ENSP00000263630:L189P;ENSP00000410608:L189P;ENSP00000404431:L189P;ENSP00000399237:L114P	ENSP00000263630:L189P	L	-	2	0	CCDC88A	55443009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.725000	0.91468	0.774000	0.33427	0.533000	0.62120	CTC		0.348	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		G	55589505	A	G	55589505	3	3	129	1	0	0	0	0	1	0	0	0	2863	304	11	4	5153	4	CCDC88A	2	55589505	Missense_Mutation	SNP	A	TCGA-13-1481-01A-01W-0549-09	6715801	55589505	187609868	18	6987											
MRPS5	64969	genome.wustl.edu	37	2	95753174	95753174	+	Silent	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:95753174G>A	ENST00000272418.2	-	12	1429	c.1221C>T	c.(1219-1221)gaC>gaT	p.D407D		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	407					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.D407D(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATCTTCCCAGTCCAGTTTGA	0.572																																																1	Substitution - coding silent(1)	ovary(1)	2											104	94	98					2																	95753174		2203	4300	6503	95116901	SO:0001819	synonymous_variant	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1221C>T	2.37:g.95753174G>A			95116901	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	CCDS2010.1																																																																																				0.572	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		A	95753174	G	A	95753174	2	1	129	1	0	0	0	0	0	0	0	1	9846	1020	36	2		2	MRPS5	2	95753174	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09	40163669	95753174	147446199	19	6988											
NCKAP5	344148	genome.wustl.edu	37	2	133541588	133541588	+	Silent	SNP	A	A	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:133541588A>T	ENST00000409261.1	-	14	3169	c.2796T>A	c.(2794-2796)ccT>ccA	p.P932P	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.P932P|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	932	Poly-Pro.			PP -> QS (in Ref. 5; BAA22433). {ECO:0000305}.						NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCTGCCTGGAGGGGGCGGAG	0.617																																																0			2											17	19	19					2																	133541588		1935	4108	6043	133258058	SO:0001819	synonymous_variant	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2796T>A	2.37:g.133541588A>T			133258058	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																				0.617	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		T	133541588	A	T	133541588	2	4	129	1	0	0	0	0	0	0	0	1	10223	291	11	5		5	NCKAP5	2	133541588	Silent	SNP	A	TCGA-13-1481-01A-01W-0549-09	37788414	133541588	109657785	20	6989											
NRP2	8828	genome.wustl.edu	37	2	206641109	206641109	+	Silent	SNP	C	C	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:206641109C>T	ENST00000357118.4	+	16	2596	c.2565C>T	c.(2563-2565)caC>caT	p.H855H	NRP2_ENST00000540178.1_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000272849.3_Silent_p.H860H|NRP2_ENST00000412873.2_Intron	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGGTGCTCCACTACCACCGGT	0.657											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			2											84	73	77					2																	206641109		2203	4300	6503	206349354	SO:0001819	synonymous_variant	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2565C>T	2.37:g.206641109C>T		2161	206349354	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357118.4	37	CCDS46498.1																																																																																				0.657	NRP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336465.1			T	206641109	C	T	206641109	2	4	129	1	0	0	0	0	0	0	0	1	10661	564	20	2		2	NRP2	2	206641109	Silent	SNP	C	TCGA-13-1481-01A-01W-0549-09	73099521	206641109	36558264	21	6990											
SLC11A1	6556	genome.wustl.edu	37	2	219254616	219254616	+	Silent	SNP	C	C	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:219254616C>T	ENST00000233202.6	+	9	1159	c.819C>T	c.(817-819)cgC>cgT	p.R273R	SLC11A1_ENST00000539932.1_Silent_p.R155R	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	273					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.R273R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGGGCCCGCCGAGCAGACA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	2											123	96	105					2																	219254616		2203	4300	6503	218962860	SO:0001819	synonymous_variant	6556			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.819C>T	2.37:g.219254616C>T			218962860	C0H5Y3	Silent	SNP	ENST00000233202.6	37	CCDS2415.1																																																																																				0.537	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		T	219254616	C	T	219254616	2	4	129	1	0	0	0	0	0	0	0	1	14383	726	26	2		2	SLC11A1	2	219254616	Silent	SNP	C	TCGA-13-1481-01A-01W-0549-09	12613507	219254616	23944757	22	6991											
CAPN10	11132	genome.wustl.edu	37	2	241534125	241534125	+	Splice_Site	SNP	A	A	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr2:241534125A>G	ENST00000391984.2	+	6	1192	c.996A>G	c.(994-996)acA>acG	p.T332T	CAPN10_ENST00000354082.4_Splice_Site_p.T332T|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Splice_Site_p.T332T|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Splice_Site_p.T332T	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	332	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.T332T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GCCTCTACACAGGTAGTGCCC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	2											51	50	51					2																	241534125		2203	4300	6503	241182798	SO:0001630	splice_region_variant	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.997+1A>G	2.37:g.241534125A>G			241182798	A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	CCDS42838.1																																																																																				0.662	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083	Silent	G	241534125	A	G	241534125	5	3	129	1	0	0	0	0	0	0	1	0	2623	202	7	4	1018	4	CAPN10	2	241534125	Splice_Site	SNP	A	TCGA-13-1481-01A-01W-0549-09	22279509	241534125	1665248	23	6992											
NKTR	4820	genome.wustl.edu	37	3	42678485	42678485	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr3:42678485G>A	ENST00000232978.8	+	13	1477	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	430	Arg/Lys-rich (basic).				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R430H(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CATAAAAAACGCAGAAAAGAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	3											55	55	55					3																	42678485		2203	4300	6503	42653489	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1289G>A	3.37:g.42678485G>A	ENSP00000232978:p.Arg430His		42653489		Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	1.232	-0.623744	0.03636	.	.	ENSG00000114857	ENST00000232978	T	0.12039	2.72	5.72	1.02	0.19986	.	0.438117	0.27464	N	0.019253	T	0.04092	0.0114	N	0.02916	-0.46	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.04013	0.001;0.001	T	0.41893	-0.9483	10	0.06625	T	0.88	-0.5124	8.4658	0.32956	0.5879:0.0:0.4121:0.0	.	130;430	Q6M1B8;P30414	.;NKTR_HUMAN	H	430	ENSP00000232978:R430H	ENSP00000232978:R430H	R	+	2	0	NKTR	42653489	0.986000	0.35501	0.997000	0.53966	0.534000	0.34807	0.373000	0.20484	0.098000	0.17522	0.655000	0.94253	CGC		0.378	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		A	42678485	G	A	42678485	3	1	129	1	0	0	0	0	1	0	0	0	10448	1087	38	1	1335	1	NKTR	3	42678485	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09		42678485	155343945	24	6993											
WDR1	9948	genome.wustl.edu	37	4	10079011	10079011	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr4:10079011T>C	ENST00000499869.2	-	14	1824	c.1631A>G	c.(1630-1632)aAt>aGt	p.N544S	WDR1_ENST00000382451.2_Missense_Mutation_p.N404S|WDR1_ENST00000382452.2_Missense_Mutation_p.N544S|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Missense_Mutation_p.N404S			O75083	WDR1_HUMAN	WD repeat domain 1	544					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.N545S(1)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AAAGTGTTCATTGTCTGGGGA	0.517																																																1	Substitution - Missense(1)	ovary(1)	4											137	144	142					4																	10079011		2111	4232	6343	9688109	SO:0001583	missense	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1631A>G	4.37:g.10079011T>C	ENSP00000427687:p.Asn544Ser		9688109	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	T	8.666	0.901662	0.17760	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.57907	0.82;0.82;0.37;0.37	5.85	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	N	0.16790	0.44	0.58432	D	0.999999	D;P	0.89917	1.0;0.659	D;B	0.83275	0.996;0.333	T	0.52071	-0.8624	10	0.32370	T	0.25	-50.5302	11.0798	0.48053	0.0:0.072:0.0:0.928	.	404;544	O75083-3;O75083	.;WDR1_HUMAN	S	544;544;404;404;379	ENSP00000427687:N544S;ENSP00000371890:N544S;ENSP00000371889:N404S;ENSP00000426725:N404S	ENSP00000371889:N404S	N	-	2	0	WDR1	9688109	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.932000	0.70121	1.044000	0.40200	0.533000	0.62120	AAT		0.517	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			C	10079011	T	C	10079011	3	2	129	1	0	0	0	0	1	0	0	0	17272	1493	52	4	197	4	WDR1	4	10079011	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09		10079011	181075265	25	6994											
ALPK1	80216	genome.wustl.edu	37	4	113353247	113353247	+	Silent	SNP	C	C	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr4:113353247C>T	ENST00000458497.1	+	11	2823	c.2544C>T	c.(2542-2544)gcC>gcT	p.A848A	ALPK1_ENST00000177648.9_Silent_p.A848A|ALPK1_ENST00000504176.2_Silent_p.A770A	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	848							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A848A(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACCCTGATGCCTCCACAGTGG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	4											45	41	42					4																	113353247		2203	4300	6503	113572696	SO:0001819	synonymous_variant	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2544C>T	4.37:g.113353247C>T			113572696	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	CCDS3697.1																																																																																				0.562	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		T	113353247	C	T	113353247	2	4	129	1	0	0	0	0	0	0	0	1	544	668	24	2		2	ALPK1	4	113353247	Silent	SNP	C	TCGA-13-1481-01A-01W-0549-09	103274236	113353247	77801029	26	6995											
PAPD4	167153	genome.wustl.edu	37	5	78977828	78977828	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr5:78977828G>T	ENST00000296783.3	+	15	1623	c.1324G>T	c.(1324-1326)Gcc>Tcc	p.A442S	PAPD4_ENST00000428308.2_Missense_Mutation_p.A442S|PAPD4_ENST00000504233.1_Missense_Mutation_p.A399S|PAPD4_ENST00000423041.2_Missense_Mutation_p.A438S|PAPD4_ENST00000453514.1_Missense_Mutation_p.A442S			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	442					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.A442S(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AACAAATACAGCCAGAGCAGT	0.318																																																1	Substitution - Missense(1)	ovary(1)	5											66	65	65					5																	78977828		2203	4299	6502	79013584	SO:0001583	missense	167153			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1324G>T	5.37:g.78977828G>T	ENSP00000296783:p.Ala442Ser		79013584	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642820	0.87859	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.92	5.92	0.95590	.	0.207171	0.49916	D	0.000136	T	0.66336	0.2779	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.996	T	0.59794	-0.7387	10	0.24483	T	0.36	-5.3854	18.4957	0.90864	0.0:0.0:1.0:0.0	.	442;438;399	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	S	442;438;399;442;442	ENSP00000397563:A442S;ENSP00000393412:A438S;ENSP00000421966:A399S;ENSP00000396861:A442S;ENSP00000296783:A442S	ENSP00000296783:A442S	A	+	1	0	PAPD4	79013584	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.336000	0.79245	2.809000	0.96659	0.467000	0.42956	GCC		0.318	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		T	78977828	G	T	78977828	3	4	129	1	0	0	0	0	1	0	0	0	11424	971	34	3	1374	3	PAPD4	5	78977828	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09		78977828	101937432	27	6996											
PCDHGA5	56110	genome.wustl.edu	37	5	140746157	140746157	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr5:140746157T>G	ENST00000518069.1	+	1	2260	c.2260T>G	c.(2260-2262)Tcc>Gcc	p.S754A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S754A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGACCTATTCCCACGAGGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	5											103	111	108					5																	140746157		2203	4300	6503	140726341	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2260T>G	5.37:g.140746157T>G	ENSP00000429834:p.Ser754Ala		140726341	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.223505	0.58668	.	.	ENSG00000253485	ENST00000518069	T	0.47177	0.85	5.17	3.93	0.45458	.	.	.	.	.	T	0.67543	0.2904	M	0.90759	3.145	0.19945	N	0.99994	D;P	0.53885	0.963;0.861	P;P	0.55055	0.767;0.728	T	0.61917	-0.6964	9	0.56958	D	0.05	.	12.3153	0.54953	0.0:0.0:0.1404:0.8596	.	754;754	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	A	754	ENSP00000429834:S754A	ENSP00000429834:S754A	S	+	1	0	PCDHGA5	140726341	0.998000	0.40836	1.000000	0.80357	0.925000	0.55904	4.074000	0.57577	2.071000	0.62044	0.460000	0.39030	TCC		0.602	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		G	140746157	T	G	140746157	3	3	129	1	0	0	0	0	1	0	0	0	11557	1783	62	5	2262	5	PCDHGA5	5	140746157	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	61768329	140746157	40169103	28	6997											
PCDH12	51294	genome.wustl.edu	37	5	141331060	141331060	+	Silent	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr5:141331060G>A	ENST00000231484.3	-	2	4186	c.2976C>T	c.(2974-2976)agC>agT	p.S992S	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	992					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S992S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTTACCTGCTGCCTCCTG	0.577											OREG0016877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	5											94	83	87					5																	141331060		2203	4300	6503	141311244	SO:0001819	synonymous_variant	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2976C>T	5.37:g.141331060G>A		1663	141311244	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	CCDS4269.1																																																																																				0.577	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		A	141331060	G	A	141331060	2	1	129	1	0	0	0	0	0	0	0	1	11510	1310	46	2		2	PCDH12	5	141331060	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09	584903	141331060	39584200	29	6998											
GCNT2	2651	genome.wustl.edu	37	6	10529538	10529546	+	In_Frame_Del	DEL	GCGACGGAT	GCGACGGAT	-	rs377718959|rs535220376		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	GCGACGGAT	GCGACGGAT	GCGACGGAT	-	GCGACGGAT	GCGACGGAT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr6:10529538_10529546delGCGACGGAT	ENST00000379597.3	+	1	950_958	c.394_402delGCGACGGAT	c.(394-402)gcgacggatdel	p.ATD132del	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_In_Frame_Del_p.ATD132del			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	132					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GGATCAGAAGGCGACGGATGCCTTTAAAG	0.498																																																0			6																																								10637532	SO:0001651	inframe_deletion	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.394_402delGCGACGGAT	6.37:g.10529538_10529546delGCGACGGAT	ENSP00000368917:p.Ala132_Asp134del		10637524		In_Frame_Del	DEL	ENST00000379597.3	37	CCDS34338.1																																																																																				0.498	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		-	10529546	GCGACGGAT	-	10529538	7	5	129	1	0	1	0	1	0	0	0	0	6301	1203	42	0	396	0	GCNT2	6	10529538	In_Frame_Del	DEL	GCGACGGAT	TCGA-13-1481-01A-01W-0549-09		10529538	160585529	30	6999											
HIST1H3H	8357	genome.wustl.edu	37	6	27777876	27777876	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr6:27777876C>G	ENST00000369163.2	+	1	35	c.25C>G	c.(25-27)Cgc>Ggc	p.R9G	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	9					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R9G(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GCAGACTGCTCGCAAGTCCAC	0.587																																																1	Substitution - Missense(1)	ovary(1)	6											42	47	45					6																	27777876		2201	4299	6500	27885855	SO:0001583	missense	8357			Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"Histones / Replication-dependent"	4775	protein-coding gene	gene with protein product		602818	"H3 histone family, member K", "histone 1, H3h"	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.25C>G	6.37:g.27777876C>G	ENSP00000358160:p.Arg9Gly		27885855	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	11.05	1.525016	0.27299	.	.	ENSG00000203813	ENST00000369163	T	0.48522	0.81	4.18	4.18	0.49190	.	.	.	.	.	T	0.57858	0.2082	.	.	.	0.46499	D	0.999074	.	.	.	.	.	.	T	0.65134	-0.6242	6	0.87932	D	0	.	16.3581	0.83244	0.0:1.0:0.0:0.0	.	.	.	.	G	9	ENSP00000358160:R9G	ENSP00000358160:R9G	R	+	1	0	HIST1H3H	27885855	1.000000	0.71417	0.926000	0.36857	0.245000	0.25701	7.462000	0.80851	2.258000	0.74832	0.655000	0.94253	CGC		0.587	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		G	27777876	C	G	27777876	3	3	129	1	0	0	0	0	1	0	0	0	7162	884	31	3	27	3	HIST1H3H	6	27777876	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	17248338	27777876	143337191	31	7000											
HIST1H4J	8363	genome.wustl.edu	37	6	27792189	27792189	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr6:27792189G>T	ENST00000355057.1	+	1	306	c.287G>T	c.(286-288)cGc>cTc	p.R96L		NM_021968.3	NP_068803.1	P62805	H4_HUMAN	histone cluster 1, H4j	96					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R96L(1)		lung(2)|ovary(1)|pancreas(1)	4						CGCCAGGGCCGCACCCTCTAC	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											26	28	27					6																	27792189		2202	4291	6493	27900168	SO:0001583	missense	8363			J00188	CCDS4630.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197238	ENSG00000197238		"Histones / Replication-dependent"	4785	protein-coding gene	gene with protein product		602826	"H4 histone family, member E", "histone 1, H4j"	H4FE		6265100, 9439656, 12408966	Standard	NM_021968		Approved	H4/e, H4F2iv	uc003njp.3	P62805	OTTHUMG00000014487	ENST00000355057.1:c.287G>T	6.37:g.27792189G>T	ENSP00000347168:p.Arg96Leu		27900168	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000355057.1	37	CCDS4630.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.326957	0.81690	.	.	ENSG00000197238	ENST00000355057	.	.	.	3.93	3.93	0.45458	.	0.000000	0.64402	U	0.000001	T	0.67363	0.2885	.	.	.	0.50039	D	0.999847	.	.	.	.	.	.	T	0.73036	-0.4109	6	0.87932	D	0	.	13.9744	0.64262	0.0:0.0:1.0:0.0	.	.	.	.	L	96	.	ENSP00000347168:R96L	R	+	2	0	HIST1H4J	27900168	1.000000	0.71417	0.997000	0.53966	0.352000	0.29268	9.241000	0.95402	2.134000	0.65973	0.585000	0.79938	CGC		0.577	HIST1H4J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040155.1	NM_021968		T	27792189	G	T	27792189	3	4	129	1	0	0	0	0	1	0	0	0	7174	1087	38	3	289	3	HIST1H4J	6	27792189	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	14313	27792189	143322878	32	7001											
HLA-G	3135	genome.wustl.edu	37	6	29797709	29797709	+	Splice_Site	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr6:29797709G>T	ENST00000360323.6	+	5	1036	c.1012G>T	c.(1012-1014)Gat>Tat	p.D338Y	HLA-G_ENST00000376818.3_Splice_Site_p.D246Y|HLA-G_ENST00000428701.1_Splice_Site_p.D338Y|HLA-G_ENST00000376828.2_Splice_Site_p.D343Y|HLA-G_ENST00000376815.3_Splice_Site_p.D154Y			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	338					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.D338Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAAGAGCTCAGGTAAGGAAGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	6											73	68	69					6																	29797709		2203	4300	6503	29905688	SO:0001630	splice_region_variant	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.1012+1G>T	6.37:g.29797709G>T			29905688		Missense_Mutation	SNP	ENST00000360323.6	37	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	13.09	2.133573	0.37630	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00958	5.8;5.77;5.77;5.56;5.5	2.23	2.23	0.28157	.	.	.	.	.	T	0.01905	0.0060	M	0.77616	2.38	0.20975	N	0.999817	P;D;P;D	0.89917	0.842;1.0;0.842;1.0	B;D;B;D	0.91635	0.144;0.999;0.144;0.998	T	0.43245	-0.9403	9	0.87932	D	0	.	8.1654	0.31224	0.0:0.0:1.0:0.0	.	154;343;246;338	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	Y	343;338;338;246;154	ENSP00000366024:D343Y;ENSP00000412927:D338Y;ENSP00000353472:D338Y;ENSP00000366014:D246Y;ENSP00000366011:D154Y	ENSP00000353472:D338Y	D	+	1	0	HLA-G	29905688	0.079000	0.21365	0.052000	0.19188	0.057000	0.15508	0.699000	0.25586	0.948000	0.37687	0.291000	0.19559	GAT		0.567	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	Missense_Mutation	T	29797709	G	T	29797709	5	4	129	1	0	0	0	0	0	0	1	0	7212	1014	35	3	1030	3	HLA-G	6	29797709	Splice_Site	SNP	G	TCGA-13-1481-01A-01W-0549-09	2005520	29797709	141317358	33	7002											
BAT2	7916	genome.wustl.edu	37	6	31594906	31594906	+	Silent	SNP	C	C	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr6:31594906C>G	ENST00000376033.2	+	11	1455	c.1221C>G	c.(1219-1221)gcC>gcG	p.A407A	PRRC2A_ENST00000376007.4_Silent_p.A407A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	407	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A407A(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GACCTCCTGCCCCAAAGCCTC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	6											22	24	24					6																	31594906		2203	4300	6503	31702885	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1221C>G	6.37:g.31594906C>G			31702885	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																				0.652	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		G	31594906	C	G	31594906	2	3	129	1	0	0	0	0	0	0	0	1	1319	610	22	3		3	BAT2	6	31594906	Silent	SNP	C	TCGA-13-1481-01A-01W-0549-09	1797197	31594906	139520161	34	7003											
TAPBP	6892	genome.wustl.edu	37	6	33272224	33272224	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr6:33272224G>A	ENST00000489157.1	-	4	1011	c.799C>T	c.(799-801)Cac>Tac	p.H267Y	TAPBP_ENST00000475304.1_Missense_Mutation_p.H372Y|TAPBP_ENST00000456592.2_Missense_Mutation_p.H354Y|TAPBP_ENST00000426633.2_Missense_Mutation_p.H354Y|TAPBP_ENST00000434618.2_Missense_Mutation_p.H354Y			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	354					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)	p.H354Y(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TCGGAATGGTGGCGCAGGGCC	0.672																																																1	Substitution - Missense(1)	ovary(1)	6											27	30	29					6																	33272224		2202	4299	6501	33380202	SO:0001583	missense	6892			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.799C>T	6.37:g.33272224G>A	ENSP00000419659:p.His267Tyr		33380202	A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124791	0.56613	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.51	3.48	0.39840	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.280380	0.38663	N	0.001606	T	0.05960	0.0155	L	0.36672	1.1	0.27136	N	0.961776	B;P;B;B;B	0.51933	0.003;0.949;0.005;0.003;0.004	B;P;B;B;B	0.46659	0.003;0.523;0.006;0.003;0.005	T	0.18713	-1.0328	10	0.30854	T	0.27	-17.3499	5.4805	0.16721	0.276:0.0:0.724:0.0	.	354;267;372;354;354	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	Y	354;372;267;354;354;354	ENSP00000395701:H354Y;ENSP00000417949:H372Y;ENSP00000419659:H267Y;ENSP00000404833:H354Y;ENSP00000387803:H354Y	ENSP00000404833:H354Y	H	-	1	0	TAPBP	33380202	0.984000	0.35163	0.856000	0.33681	0.814000	0.46013	1.769000	0.38522	1.343000	0.45638	0.498000	0.49722	CAC		0.672	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			A	33272224	G	A	33272224	3	1	129	1	0	0	0	0	1	0	0	0	15552	1348	47	2	482	2	TAPBP	6	33272224	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	1677318	33272224	137842843	35	7004											
C6orf222	389384	genome.wustl.edu	37	6	36297864	36297864	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr6:36297864G>C	ENST00000437635.2	-	2	781	c.604C>G	c.(604-606)Cgc>Ggc	p.R202G		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	202								p.R202G(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCACCCCTGCGAGCTGGGCCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	6											54	54	54					6																	36297864		2203	4300	6503	36405842	SO:0001583	missense	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.604C>G	6.37:g.36297864G>C	ENSP00000418983:p.Arg202Gly		36405842	B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	4.911	0.169292	0.09339	.	.	ENSG00000189325	ENST00000437635	T	0.42900	0.96	4.35	-0.585	0.11698	.	1.683590	0.03348	N	0.195779	T	0.08714	0.0216	N	0.22421	0.69	0.09310	N	1	B	0.23377	0.084	B	0.20767	0.031	T	0.10405	-1.0631	10	0.13470	T	0.59	-40.4977	4.031	0.09710	0.3012:0.4073:0.2915:0.0	.	202	P0C671	CF222_HUMAN	G	202	ENSP00000418983:R202G	ENSP00000418983:R202G	R	-	1	0	C6orf222	36405842	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-0.753000	0.04792	0.084000	0.17077	0.442000	0.29010	CGC		0.642	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		C	36297864	G	C	36297864	3	2	129	1	0	0	0	0	1	0	0	0	2356	1058	37	3	1398	3	C6orf222	6	36297864	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	3025640	36297864	134817203	36	7005											
ZDHHC14	79683	genome.wustl.edu	37	6	158074597	158074597	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr6:158074597C>G	ENST00000359775.5	+	8	1895	c.1006C>G	c.(1006-1008)Cag>Gag	p.Q336E	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.Q336E|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	336					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Q336E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGACACGCCGCAGCCAGCAGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											78	69	72					6																	158074597		2203	4300	6503	157994585	SO:0001583	missense	79683			AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1006C>G	6.37:g.158074597C>G	ENSP00000352821:p.Gln336Glu		157994585	A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549273	0.27652	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.46451	0.88;0.87	5.29	5.29	0.74685	.	0.622757	0.16039	N	0.232514	T	0.18299	0.0439	L	0.47716	1.5	0.54753	D	0.999985	B;B	0.19706	0.038;0.019	B;B	0.20955	0.032;0.032	T	0.28490	-1.0042	10	0.05525	T	0.97	-9.9553	17.7178	0.88342	0.0:1.0:0.0:0.0	.	336;336	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	E	336;336;340	ENSP00000352821:Q336E;ENSP00000410713:Q336E	ENSP00000352821:Q336E	Q	+	1	0	ZDHHC14	157994585	1.000000	0.71417	0.982000	0.44146	0.659000	0.38960	6.815000	0.75242	0.842000	0.35045	0.460000	0.39030	CAG		0.582	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		G	158074597	C	G	158074597	3	3	129	1	0	0	0	0	1	0	0	0	17604	711	25	3	1036	3	ZDHHC14	6	158074597	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	121776733	158074597	13040470	37	7006											
LPA	4018	genome.wustl.edu	37	6	161010635	161010635	+	Silent	SNP	G	G	T	rs201133663		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr6:161010635G>T	ENST00000316300.5	-	24	3941	c.3897C>A	c.(3895-3897)tcC>tcA	p.S1299S	LPA_ENST00000447678.1_Silent_p.S1299S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3807	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.S1299S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTGTCATAGAGGACCAAGACT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	6											162	167	165					6																	161010635		2170	4294	6464	160930625	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3897C>A	6.37:g.161010635G>T			160930625	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	161010635	G	T	161010635	2	4	129	1	0	0	0	0	0	0	0	1	8903	987	35	3		3	LPA	6	161010635	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09	2936038	161010635	10104432	38	7007											
TYW1B	441250	genome.wustl.edu	37	7	72285959	72285959	+	RNA	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr7:72285959C>A	ENST00000435769.2	-	0	359				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AATTACCAACCTCTTCTATCA	0.333																																																0			7											132	114	119					7																	72285959		692	1591	2283	71923895			0			BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72285959C>A			71923895	A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37																																																																																					0.333	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		A	72285959	C	A	72285959	1	1	129	0	1	0	0	0	0	0	0	0	16819	695	24	3		3	TYW1B	7	72285959	RNA	SNP	C	TCGA-13-1481-01A-01W-0549-09		72285959	86852704	39	7008											
STEAP2	261729	genome.wustl.edu	37	7	89859252	89859252	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr7:89859252T>A	ENST00000287908.3	+	4	1480	c.1087T>A	c.(1087-1089)Ttt>Att	p.F363I	STEAP2_ENST00000394629.2_Missense_Mutation_p.F363I|STEAP2_ENST00000394626.1_Missense_Mutation_p.F363I|STEAP2_ENST00000394621.2_Missense_Mutation_p.F363I|STEAP2_ENST00000394622.2_Missense_Mutation_p.F363I|STEAP2_ENST00000402625.2_Missense_Mutation_p.F363I|STEAP2_ENST00000394632.1_Missense_Mutation_p.F363I	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	363	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.F363I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GTATATCTCCTTTGGCATAAT	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											171	174	173					7																	89859252		2203	4300	6503	89697188	SO:0001583	missense	261729			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1087T>A	7.37:g.89859252T>A	ENSP00000287908:p.Phe363Ile		89697188	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854984	0.91355	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.93	5.93	0.95920	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.90652	0.7068	L	0.34521	1.04	0.52501	D	0.999958	P;P;P	0.46706	0.7;0.883;0.599	B;P;B	0.52909	0.368;0.713;0.356	D	0.91418	0.5156	10	0.59425	D	0.04	-24.2807	16.3839	0.83495	0.0:0.0:0.0:1.0	.	363;363;363	G5E9C6;Q6YPB2;Q8NFT2	.;.;STEA2_HUMAN	I	363	ENSP00000287908:F363I;ENSP00000378123:F363I;ENSP00000378120:F363I;ENSP00000378128:F363I;ENSP00000378119:F363I;ENSP00000384191:F363I;ENSP00000378125:F363I	ENSP00000287908:F363I	F	+	1	0	STEAP2	89697188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.291000	0.72719	2.258000	0.74832	0.533000	0.62120	TTT		0.373	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		A	89859252	T	A	89859252	3	1	129	1	0	0	0	0	1	0	0	0	15280	1609	56	5	1097	5	STEAP2	7	89859252	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	17573293	89859252	69279411	40	7009											
SAMD9	54809	genome.wustl.edu	37	7	92733460	92733460	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr7:92733460C>A	ENST00000379958.2	-	3	2220	c.1951G>T	c.(1951-1953)Gct>Tct	p.A651S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	651						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.A651S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTTCCAGAGCAGTCATGATA	0.343																																																1	Substitution - Missense(1)	ovary(1)	7											100	103	102					7																	92733460		2203	4299	6502	92571396	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1951G>T	7.37:g.92733460C>A	ENSP00000369292:p.Ala651Ser		92571396	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	1.130	-0.652706	0.03480	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21191	2.02;2.81	4.35	1.5	0.22942	.	0.401465	0.22932	N	0.053900	T	0.11196	0.0273	N	0.20986	0.625	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.32481	-0.9905	10	0.20519	T	0.43	.	6.218	0.20665	0.2658:0.5773:0.0:0.157	.	651	Q5K651	SAMD9_HUMAN	S	651	ENSP00000369292:A651S;ENSP00000414529:A651S	ENSP00000369292:A651S	A	-	1	0	SAMD9	92571396	0.004000	0.15560	0.939000	0.37840	0.449000	0.32228	0.021000	0.13489	-0.032000	0.13758	-1.195000	0.01675	GCT		0.343	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		A	92733460	C	A	92733460	3	1	129	1	0	0	0	0	1	0	0	0	13829	710	25	3	2822	3	SAMD9	7	92733460	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	2874208	92733460	66405203	41	7010											
ZNF498	221785	genome.wustl.edu	37	7	99227356	99227356	+	Missense_Mutation	SNP	C	C	G	rs554988594		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr7:99227356C>G	ENST00000394152.2	+	8	1675	c.1348C>G	c.(1348-1350)Cgg>Ggg	p.R450G	ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R378G|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R450G|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	450					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.R450G(1)									GCAGGTGCACCGGAGGACGCA	0.657																																																1	Substitution - Missense(1)	ovary(1)	7											44	46	46					7																	99227356		2203	4300	6503	99065292	SO:0001583	missense	221785			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1348C>G	7.37:g.99227356C>G	ENSP00000377708:p.Arg450Gly		99065292	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399830	0.62177	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.07444	3.19;3.19;3.19	3.93	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000702	T	0.19208	0.0461	L	0.53671	1.685	0.32443	N	0.546424	D;D	0.63880	0.991;0.993	P;P	0.62014	0.835;0.897	T	0.10683	-1.0619	10	0.87932	D	0	-30.4113	11.0019	0.47611	0.1877:0.8123:0.0:0.0	.	378;450	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	G	450;450;378	ENSP00000377708:R450G;ENSP00000334800:R450G;ENSP00000262941:R378G	ENSP00000262941:R378G	R	+	1	2	ZNF498	99065292	0.000000	0.05858	0.877000	0.34402	0.972000	0.66771	0.634000	0.24614	1.177000	0.42855	0.561000	0.74099	CGG		0.657	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		G	99227356	C	G	99227356	3	3	129	1	0	0	0	0	1	0	0	0	17947	643	23	3	1366	3	ZNF498	7	99227356	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	6493896	99227356	59911307	42	7011											
MUC17	140453	genome.wustl.edu	37	7	100663431	100663431	+	Silent	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr7:100663431G>A	ENST00000306151.4	+	1	79	c.15G>A	c.(13-15)ggG>ggA	p.G5G	RP11-395B7.4_ENST00000441882.1_RNA|RP11-395B7.4_ENST00000448513.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	5					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.G5G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGGCCAGGGACCATGGCGC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	7											110	80	90					7																	100663431		2203	4300	6503	100450151	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.15G>A	7.37:g.100663431G>A			100450151	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.597	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100663431	G	A	100663431	2	1	129	1	0	0	0	0	0	0	0	1	9974	1161	41	2		2	MUC17	7	100663431	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09	1436075	100663431	58475232	43	7012											
C7orf58	79974	genome.wustl.edu	37	7	120686959	120686959	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr7:120686959A>G	ENST00000310396.5	+	4	919	c.452A>G	c.(451-453)gAt>gGt	p.D151G	CPED1_ENST00000340646.5_Missense_Mutation_p.D151G|CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.D151G	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	151						endoplasmic reticulum (GO:0005783)		p.D151G(1)									GGCTCTTGGGATCTGCTCATT	0.333																																																1	Substitution - Missense(1)	ovary(1)	7											146	146	146					7																	120686959		2203	4300	6503	120474195	SO:0001583	missense	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.452A>G	7.37:g.120686959A>G	ENSP00000309772:p.Asp151Gly		120474195	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576713	0.65878	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.86	4.86	0.63082	.	0.444484	0.25497	N	0.030263	T	0.62356	0.2421	L	0.59436	1.845	0.36170	D	0.848696	D;P	0.89917	1.0;0.841	D;B	0.87578	0.998;0.355	T	0.69702	-0.5074	10	0.51188	T	0.08	.	10.8019	0.46493	1.0:0.0:0.0:0.0	.	151;151	A4D0V7-2;A4D0V7	.;CG058_HUMAN	G	151	ENSP00000309772:D151G;ENSP00000398082:D151G;ENSP00000406122:D151G;ENSP00000345235:D151G	ENSP00000309772:D151G	D	+	2	0	C7orf58	120474195	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.303000	0.59098	2.043000	0.60533	0.482000	0.46254	GAT		0.333	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		G	120686959	A	G	120686959	3	3	129	1	0	0	0	0	1	0	0	0	2405	333	12	4	462	4	C7orf58	7	120686959	Missense_Mutation	SNP	A	TCGA-13-1481-01A-01W-0549-09	20023528	120686959	38451704	44	7013											
TBXAS1	6916	genome.wustl.edu	37	7	139653250	139653250	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr7:139653250C>G	ENST00000336425.5	+	10	923	c.534C>G	c.(532-534)atC>atG	p.I178M	TBXAS1_ENST00000458722.1_Missense_Mutation_p.I224M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.I225M|TBXAS1_ENST00000425687.1_Missense_Mutation_p.I111M|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.I179M|TBXAS1_ENST00000411653.1_Missense_Mutation_p.I178M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.I179M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.I178M|TBXAS1_ENST00000263552.6_Missense_Mutation_p.I179M			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	178					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.I179M(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CATTTGACATCCAGAGGTAAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	7											103	93	96					7																	139653250		2203	4300	6503	139299719	SO:0001583	missense	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.534C>G	7.37:g.139653250C>G	ENSP00000338087:p.Ile178Met		139299719	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37		.	.	.	.	.	.	.	.	.	.	C	5.229	0.227757	0.09916	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.43	2.57	0.30868	.	0.142348	0.64402	N	0.000007	T	0.52289	0.1725	N	0.20881	0.62	0.80722	D	1	B;P;B;P;B;B;B	0.47604	0.223;0.832;0.201;0.898;0.223;0.119;0.119	B;P;B;P;B;B;B	0.47346	0.17;0.544;0.088;0.447;0.162;0.062;0.062	T	0.39901	-0.9591	10	0.11182	T	0.66	.	10.0373	0.42135	0.0:0.5346:0.3939:0.0715	.	159;225;130;111;179;179;178	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	M	111;179;178;225;179;179;178;224;178	ENSP00000388736:I111M;ENSP00000263552:I179M;ENSP00000338087:I178M;ENSP00000389414:I225M;ENSP00000392361:I179M;ENSP00000392702:I179M;ENSP00000402536:I178M;ENSP00000411274:I224M;ENSP00000411326:I178M	ENSP00000263552:I179M	I	+	3	3	TBXAS1	139299719	1.000000	0.71417	0.954000	0.39281	0.307000	0.27823	1.735000	0.38176	0.241000	0.21283	-0.136000	0.14681	ATC		0.443	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			G	139653250	C	G	139653250	3	3	129	1	0	0	0	0	1	0	0	0	15664	845	30	3	701	3	TBXAS1	7	139653250	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	18966291	139653250	19485413	45	7014											
KEL	3792	genome.wustl.edu	37	7	142641484	142641484	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr7:142641484C>A	ENST00000355265.2	-	13	1891	c.1417G>T	c.(1417-1419)Gct>Tct	p.A473S	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	473					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.A473S(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGCAGTTGAGCAACCTGGAGA	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											73	75	75					7																	142641484		2203	4300	6503	142351606	SO:0001583	missense	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1417G>T	7.37:g.142641484C>A	ENSP00000347409:p.Ala473Ser		142351606	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	2.206	-0.381727	0.04966	.	.	ENSG00000197993	ENST00000355265	T	0.73789	-0.78	4.85	-3.19	0.05171	Peptidase M13 (1);	0.492928	0.18638	N	0.135366	T	0.41834	0.1176	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.26780	-1.0093	10	0.14252	T	0.57	-9.7942	3.3819	0.07257	0.477:0.1958:0.0:0.3272	.	473	P23276	KELL_HUMAN	S	473	ENSP00000347409:A473S	ENSP00000347409:A473S	A	-	1	0	KEL	142351606	0.005000	0.15991	0.208000	0.23602	0.010000	0.07245	-0.060000	0.11712	-0.263000	0.09378	-1.057000	0.02308	GCT		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142641484	C	A	142641484	3	1	129	1	0	0	0	0	1	0	0	0	8142	710	25	3	809	3	KEL	7	142641484	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	2988234	142641484	16497179	46	7015											
HR	55806	genome.wustl.edu	37	8	21981313	21981313	+	Silent	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr8:21981313G>A	ENST00000381418.4	-	6	3244	c.1764C>T	c.(1762-1764)gcC>gcT	p.A588A	HR_ENST00000312841.8_Silent_p.A588A	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	588					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A588A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTCTGTCACGGCTGGCCCTT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	8											46	28	34					8																	21981313		2201	4297	6498	22037258	SO:0001819	synonymous_variant	55806			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1764C>T	8.37:g.21981313G>A			22037258	Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	CCDS6022.1																																																																																				0.637	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			A	21981313	G	A	21981313	2	1	129	1	0	0	0	0	0	0	0	1	7347	1103	39	1		1	HR	8	21981313	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09		21981313	124382709	47	7016											
EBF2	64641	genome.wustl.edu	37	8	25744284	25744284	+	Missense_Mutation	SNP	C	C	A	rs557856249		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr8:25744284C>A	ENST00000520164.1	-	10	1533	c.996G>T	c.(994-996)agG>agT	p.R332S	EBF2_ENST00000408929.3_Missense_Mutation_p.R184S|EBF2_ENST00000535548.1_Missense_Mutation_p.R63S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	332	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R332S(5)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTAAATGAACCTTCCTGGGG	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		19473	0		0	False		,,,				2504	0				Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											5	Substitution - Missense(5)	lung(4)|ovary(1)	8											96	94	95					8																	25744284		1863	4098	5961	25800201	SO:0001583	missense	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.996G>T	8.37:g.25744284C>A	ENSP00000430241:p.Arg332Ser		25800201	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548384	0.45383	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.76186	-1.0;-1.0;0.94	5.58	1.81	0.25067	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80974	0.4727	M	0.72894	2.215	0.80722	D	1	D	0.56521	0.976	P	0.61328	0.887	T	0.79325	-0.1850	10	0.52906	T	0.07	-15.817	10.1416	0.42738	0.0:0.6707:0.0:0.3293	.	332	Q9HAK2	COE2_HUMAN	S	332;184;63	ENSP00000430241:R332S;ENSP00000386178:R184S;ENSP00000437909:R63S	ENSP00000386178:R184S	R	-	3	2	EBF2	25800201	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.851000	0.39338	0.340000	0.23745	-0.993000	0.02533	AGG		0.483	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		A	25744284	C	A	25744284	3	1	129	1	0	0	0	0	1	0	0	0	4881	506	18	3	759	3	EBF2	8	25744284	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	3762971	25744284	120619738	48	7017											
POTEA	340441	genome.wustl.edu	37	8	43152267	43152267	+	RNA	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr8:43152267C>A	ENST00000522175.2	+	0	406							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.A135D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGAGGACAGCTCTGATAAAG	0.373																																																1	Substitution - Missense(1)	ovary(1)	8											92	88	89					8																	43152267		2177	4287	6464	43271424			340441			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152267C>A			43271424	A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37																																																																																					0.373	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		A	43152267	C	A	43152267	1	1	129	0	1	0	0	0	0	0	0	0	12261	797	28	3		3	POTEA	8	43152267	RNA	SNP	C	TCGA-13-1481-01A-01W-0549-09	17407983	43152267	103211755	49	7018											
SPAG1	6674	genome.wustl.edu	37	8	101237454	101237454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr8:101237454C>A	ENST00000388798.2	+	14	1933	c.1742C>A	c.(1741-1743)tCa>tAa	p.S581*	SPAG1_ENST00000523302.1_3'UTR|SPAG1_ENST00000251809.3_Nonsense_Mutation_p.S581*	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	581					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.S581*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GAGAAGCTGTCACCTATTCCT	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	8											63	59	61					8																	101237454		2203	4300	6503	101306630	SO:0001587	stop_gained	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1742C>A	8.37:g.101237454C>A	ENSP00000373450:p.Ser581*		101306630	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Nonsense_Mutation	SNP	ENST00000388798.2	37	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	C	40	8.361695	0.98777	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	.	.	.	5.46	5.46	0.80206	.	0.281448	0.39985	N	0.001218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-0.0026	16.6255	0.84969	0.0:1.0:0.0:0.0	.	.	.	.	X	581	.	ENSP00000251809:S581X	S	+	2	0	SPAG1	101306630	0.707000	0.27866	0.990000	0.47175	0.992000	0.81027	4.954000	0.63631	2.731000	0.93534	0.650000	0.86243	TCA		0.458	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		A	101237454	C	A	101237454	4	1	129	1	0	0	0	0	0	1	0	0	14978	838	29	3	1792	3	SPAG1	8	101237454	Nonsense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	58085187	101237454	45126568	50	7019											
KHDRBS3	10656	genome.wustl.edu	37	8	136657328	136657328	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr8:136657328A>G	ENST00000355849.5	+	8	1327	c.917A>G	c.(916-918)cAt>cGt	p.H306R	KHDRBS3_ENST00000520981.1_Missense_Mutation_p.H79R	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	306	Tyr-rich.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.H306R(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GATTACGGACATGGACTCAGT	0.423																																																1	Substitution - Missense(1)	ovary(1)	8											153	146	148					8																	136657328		2203	4300	6503	136726510	SO:0001583	missense	10656			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.917A>G	8.37:g.136657328A>G	ENSP00000348108:p.His306Arg		136726510	Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801116	0.90538	.	.	ENSG00000131773	ENST00000355849;ENST00000520981	T;T	0.50277	0.82;0.75	5.77	5.77	0.91146	.	0.152849	0.64402	D	0.000014	T	0.67832	0.2935	M	0.71206	2.165	0.52501	D	0.999958	D	0.89917	1.0	D	0.74023	0.982	T	0.70999	-0.4719	10	0.72032	D	0.01	-33.2834	15.5753	0.76373	1.0:0.0:0.0:0.0	.	306	O75525	KHDR3_HUMAN	R	306;79	ENSP00000348108:H306R;ENSP00000428607:H79R	ENSP00000348108:H306R	H	+	2	0	KHDRBS3	136726510	1.000000	0.71417	0.899000	0.35326	0.996000	0.88848	5.413000	0.66399	2.326000	0.78906	0.533000	0.62120	CAT		0.423	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			G	136657328	A	G	136657328	3	3	129	1	0	0	0	0	1	0	0	0	8148	217	8	4	947	4	KHDRBS3	8	136657328	Missense_Mutation	SNP	A	TCGA-13-1481-01A-01W-0549-09	35419874	136657328	9706694	51	7020											
TEK	7010	genome.wustl.edu	37	9	27217734	27217734	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr9:27217734G>T	ENST00000380036.4	+	19	3482	c.3040G>T	c.(3040-3042)Gtg>Ttg	p.V1014L	TEK_ENST00000519097.1_Missense_Mutation_p.V866L|TEK_ENST00000406359.4_Missense_Mutation_p.V971L	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1014	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V1014L(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GAATTACAGTGTGTACACAAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	9											124	126	126					9																	27217734		2203	4300	6503	27207734	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3040G>T	9.37:g.27217734G>T	ENSP00000369375:p.Val1014Leu		27207734	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834374	0.91036	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.82433	-1.61;-1.61;-1.61	4.36	4.36	0.52297	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40908	D	0.000982	D	0.85371	0.5681	N	0.25286	0.73	0.80722	D	1	D;D;D	0.61697	0.988;0.99;0.988	D;D;D	0.72982	0.971;0.969;0.979	D	0.87853	0.2659	10	0.72032	D	0.01	.	17.4452	0.87577	0.0:0.0:1.0:0.0	.	866;1047;1014	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	L	866;1014;971	ENSP00000430686:V866L;ENSP00000369375:V1014L;ENSP00000383977:V971L	ENSP00000369375:V1014L	V	+	1	0	TEK	27207734	1.000000	0.71417	0.965000	0.40720	0.970000	0.65996	9.540000	0.98080	2.414000	0.81942	0.591000	0.81541	GTG		0.428	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			T	27217734	G	T	27217734	3	4	129	1	0	0	0	0	1	0	0	0	15751	1377	48	3	3114	3	TEK	9	27217734	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09		27217734	113995697	52	7021											
NPR2	4882	genome.wustl.edu	37	9	35808671	35808671	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr9:35808671G>T	ENST00000342694.2	+	19	3133	c.2878G>T	c.(2878-2880)Gtc>Ttc	p.V960F	SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	960	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.V960F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGCATAGGGGTCCATACTGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	9											86	81	83					9																	35808671		2203	4300	6503	35798671	SO:0001583	missense	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2878G>T	9.37:g.35808671G>T	ENSP00000341083:p.Val960Phe		35798671	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336362	0.81801	.	.	ENSG00000159899	ENST00000342694	D	0.84298	-1.83	5.63	5.63	0.86233	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.39020	N	0.001493	T	0.80529	0.4640	L	0.35723	1.085	0.80722	D	1	P;B	0.39940	0.696;0.205	B;B	0.43990	0.438;0.139	T	0.79063	-0.1957	10	0.41790	T	0.15	.	8.7666	0.34706	0.1589:0.0:0.8411:0.0	.	960;960	P20594-2;P20594	.;ANPRB_HUMAN	F	960	ENSP00000341083:V960F	ENSP00000341083:V960F	V	+	1	0	NPR2	35798671	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.272000	0.51616	2.636000	0.89361	0.655000	0.94253	GTC		0.542	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			T	35808671	G	T	35808671	3	4	129	1	0	0	0	0	1	0	0	0	10595	1261	44	3	2952	3	NPR2	9	35808671	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	8590937	35808671	105404760	53	7022											
ZNF169	169841	genome.wustl.edu	37	9	97062517	97062517	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr9:97062517G>C	ENST00000395395.2	+	5	767	c.677G>C	c.(676-678)aGc>aCc	p.S226T	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S226T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AAAAAGTCAAGCCTGTTCAGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	9											65	59	61					9																	97062517		2203	4300	6503	96102338	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.677G>C	9.37:g.97062517G>C	ENSP00000378792:p.Ser226Thr		96102338	A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	G	1.590	-0.529414	0.04112	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.07216	3.21	2.59	1.67	0.24075	.	.	.	.	.	T	0.07954	0.0199	L	0.39245	1.2	0.58432	D	0.999998	B	0.31040	0.305	B	0.34873	0.191	T	0.22417	-1.0217	9	0.56958	D	0.05	.	6.666	0.23041	0.1601:0.0:0.8399:0.0	.	226	Q14929	ZN169_HUMAN	T	226;35	ENSP00000378792:S226T	ENSP00000340711:S35T	S	+	2	0	ZNF169	96102338	0.000000	0.05858	0.875000	0.34327	0.471000	0.32888	-1.626000	0.02035	0.643000	0.30638	0.505000	0.49811	AGC		0.512	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		C	97062517	G	C	97062517	3	2	129	1	0	0	0	0	1	0	0	0	17742	971	34	3	691	3	ZNF169	9	97062517	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	61253846	97062517	44150914	54	7023											
OR13C5	138799	genome.wustl.edu	37	9	107361263	107361263	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr9:107361263C>A	ENST00000374779.2	-	1	525	c.432G>T	c.(430-432)atG>atT	p.M144I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M144I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ACCCAGCTGCCATGGGTACAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	9											103	102	103					9																	107361263		2203	4298	6501	106401084	SO:0001583	missense	138799				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.432G>T	9.37:g.107361263C>A	ENSP00000363911:p.Met144Ile		106401084	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118085	0.37339	.	.	ENSG00000255800	ENST00000374779	T	0.35605	1.3	4.17	-3.39	0.04868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	U	0.000405	T	0.43322	0.1242	L	0.57130	1.785	0.09310	N	1	D	0.63046	0.992	D	0.62955	0.909	T	0.40194	-0.9576	10	0.87932	D	0	.	6.3813	0.21536	0.6385:0.1945:0.0:0.167	.	144	Q8NGS8	O13C5_HUMAN	I	144	ENSP00000363911:M144I	ENSP00000363911:M144I	M	-	3	0	OR13C5	106401084	0.000000	0.05858	0.044000	0.18714	0.194000	0.23727	-1.137000	0.03219	-1.034000	0.03295	-0.347000	0.07816	ATG		0.468	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		A	107361263	C	A	107361263	3	1	129	1	0	0	0	0	1	0	0	0	10937	594	21	3	526	3	OR13C5	9	107361263	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	10298746	107361263	33852168	55	7024											
ZNF462	58499	genome.wustl.edu	37	9	109689704	109689704	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr9:109689704G>A	ENST00000277225.5	+	3	3800	c.3511G>A	c.(3511-3513)Gcc>Acc	p.A1171T	ZNF462_ENST00000457913.1_Missense_Mutation_p.A1171T|ZNF462_ENST00000441147.2_Missense_Mutation_p.A16T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1171					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A1171T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCGGCCACCCGCCCCCATACA	0.557																																																1	Substitution - Missense(1)	ovary(1)	9											88	98	95					9																	109689704		2203	4300	6503	108729525	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3511G>A	9.37:g.109689704G>A	ENSP00000277225:p.Ala1171Thr		108729525	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192381	0.38707	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05319	3.46;3.91;4.03;3.99	5.22	4.33	0.51752	.	0.366735	0.32106	N	0.006571	T	0.04497	0.0123	L	0.36672	1.1	0.80722	D	1	D;B	0.53312	0.959;0.016	B;B	0.36418	0.224;0.004	T	0.54022	-0.8355	10	0.18710	T	0.47	.	9.9058	0.41375	0.1553:0.0:0.8447:0.0	.	1171;1171	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	1171;1171;54;16	ENSP00000277225:A1171T;ENSP00000414570:A1171T;ENSP00000363818:A54T;ENSP00000397306:A16T	ENSP00000277225:A1171T	A	+	1	0	ZNF462	108729525	0.050000	0.20438	0.876000	0.34364	0.931000	0.56810	1.394000	0.34509	1.201000	0.43203	0.561000	0.74099	GCC		0.557	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		A	109689704	G	A	109689704	3	1	129	1	0	0	0	0	1	0	0	0	17926	1087	38	1	3517	1	ZNF462	9	109689704	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	2328441	109689704	31523727	56	7025											
AKAP2	11217	genome.wustl.edu	37	9	112899700	112899700	+	Missense_Mutation	SNP	G	G	C	rs367729276		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr9:112899700G>C	ENST00000259318.7	+	2	1390	c.1183G>C	c.(1183-1185)Ggt>Cgt	p.G395R	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G626R|AKAP2_ENST00000374525.1_Missense_Mutation_p.G484R|AKAP2_ENST00000510514.5_Missense_Mutation_p.G626R|AKAP2_ENST00000434623.2_Missense_Mutation_p.G484R|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.G626R|AKAP2_ENST00000555236.1_Missense_Mutation_p.G626R	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	395								p.G484R(1)|p.G626R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAAATCCCCCGGTGCCCTGGA	0.607																																																2	Substitution - Missense(2)	ovary(2)	9											54	60	58					9																	112899700		2203	4300	6503	111939521	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1183G>C	9.37:g.112899700G>C	ENSP00000259318:p.Gly395Arg		111939521	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	g	7.003	0.555176	0.13436	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.42513	2.31;2.31;2.31;2.31;1.55;0.97;0.98;1.57	5.64	-11.3	0.00108	.	0.713130	0.13867	N	0.357243	T	0.23649	0.0572	N	0.08118	0	0.09310	N	1	P;D;D;D;P;P;P;D	0.54964	0.874;0.968;0.969;0.96;0.932;0.603;0.603;0.969	P;P;P;P;P;B;B;B	0.55161	0.47;0.77;0.512;0.706;0.512;0.173;0.173;0.389	T	0.50065	-0.8871	10	0.25106	T	0.35	2.2553	9.1788	0.37129	0.4258:0.0:0.3664:0.2078	.	395;484;478;484;485;626;626;444	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	R	626;626;626;626;484;484;444;395	ENSP00000363654:G626R;ENSP00000305861:G626R;ENSP00000451476:G626R;ENSP00000421522:G626R;ENSP00000404782:G484R;ENSP00000363649:G484R;ENSP00000419268:G444R;ENSP00000259318:G395R	ENSP00000259318:G395R	G	+	1	0	PALM2-AKAP2;AKAP2	111939521	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	0.092000	0.15066	-2.350000	0.00617	-2.717000	0.00132	GGT		0.607	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		C	112899700	G	C	112899700	3	2	129	1	0	0	0	0	1	0	0	0	451	1116	39	3	1456	3	AKAP2	9	112899700	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	3209996	112899700	28313731	57	7026											
NR6A1	2649	genome.wustl.edu	37	9	127298392	127298392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr9:127298392C>A	ENST00000487099.2	-	7	1001	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E278*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E281*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E277*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	282					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E282*(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCAAATAGTTCTGCCTGTGTC	0.537																																					Esophageal Squamous(192;272 2884 6208 20560)											1	Substitution - Nonsense(1)	ovary(1)	9											89	91	90					9																	127298392		2203	4300	6503	126338213	SO:0001587	stop_gained	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.844G>T	9.37:g.127298392C>A	ENSP00000420267:p.Glu282*		126338213	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Nonsense_Mutation	SNP	ENST00000487099.2	37	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	38	6.949765	0.97956	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	.	.	.	5.17	5.17	0.71159	.	0.211642	0.48767	D	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.5492	0.91057	0.0:1.0:0.0:0.0	.	.	.	.	X	282;278;277;281	.	ENSP00000341135:E281X	E	-	1	0	NR6A1	126338213	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.627000	0.83176	2.793000	0.96121	0.563000	0.77884	GAA		0.537	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			A	127298392	C	A	127298392	4	1	129	1	0	0	0	0	0	1	0	0	10637	922	32	3	614	3	NR6A1	9	127298392	Nonsense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	14398692	127298392	13915039	58	7027											
QSOX2	169714	genome.wustl.edu	37	9	139103240	139103240	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr9:139103240G>T	ENST00000358701.5	-	11	1456	c.1419C>A	c.(1417-1419)ttC>ttA	p.F473L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	473	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.F473L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TACACCCAAAGAAGGTGTGAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	9											134	101	112					9																	139103240		2203	4300	6503	138243061	SO:0001583	missense	169714			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1419C>A	9.37:g.139103240G>T	ENSP00000351536:p.Phe473Leu		138243061	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	CCDS35178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.78|15.78	2.935607|2.935607	0.52972|0.52972	.|.	.|.	ENSG00000165661|ENSG00000165661	ENST00000358701;ENST00000389471|ENST00000455222	T|.	0.55052|.	0.54|.	4.72|4.72	3.55|3.55	0.40652|0.40652	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72285|0.72285	0.3441|0.3441	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.71870|.	0.975|.	T|T	0.73294|0.73294	-0.4028|-0.4028	10|5	0.62326|.	D|.	0.03|.	-28.1458|-28.1458	10.7183|10.7183	0.46026|0.46026	0.1362:0.0:0.8638:0.0|0.1362:0.0:0.8638:0.0	.|.	473|.	Q6ZRP7|.	QSOX2_HUMAN|.	L|I	473;272|241	ENSP00000351536:F473L|.	ENSP00000351536:F473L|.	F|L	-|-	3|1	2|0	QSOX2|QSOX2	138243061|138243061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.151000|0.151000	0.21798|0.21798	2.011000|2.011000	0.40922|0.40922	2.330000|2.330000	0.79161|0.79161	0.609000|0.609000	0.83330|0.83330	TTC|CTT		0.537	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		T	139103240	G	T	139103240	3	4	129	1	0	0	0	0	1	0	0	0	12887	933	33	3	685	3	QSOX2	9	139103240	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	11804848	139103240	2110191	59	7028											
TUBB8	347688	genome.wustl.edu	37	10	93295	93295	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr10:93295G>C	ENST00000309812.4	-	4	1099	c.1037C>G	c.(1036-1038)cCc>cGc	p.P346R	TUBB8_ENST00000447903.2_Missense_Mutation_p.P274R|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	346					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.P346R(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACGTTGTTGGGGAGCCAGTC	0.502																																					Pancreas(192;2041 3010 9013 18103)											1	Substitution - Missense(1)	ovary(1)	10											93	102	99					10																	93295		2203	4300	6503	83295	SO:0001583	missense	347688			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1037C>G	10.37:g.93295G>C	ENSP00000311042:p.Pro346Arg		83295	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030115	0.19512	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	D	0.90133	-2.62	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	U	0.000017	D	0.97031	0.9030	H	0.99916	4.945	0.39056	D	0.960423	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	D	0.93478	0.6825	9	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	309;346	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	R	274;312;309;346	ENSP00000403895:P274R	ENSP00000272035:P312R	P	-	2	0	RP11-631M21.2	83295	1.000000	0.71417	0.123000	0.21794	0.124000	0.20399	6.543000	0.73874	0.119000	0.18210	0.121000	0.15741	CCC		0.502	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		C	93295	G	C	93295	3	2	129	1	0	0	0	0	1	0	0	0	16761	1232	43	3	301	3	TUBB8	10	93295	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09		93295	135441452	60	7029											
KIAA1462	57608	genome.wustl.edu	37	10	30317209	30317210	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr10:30317209_30317210delCT	ENST00000375377.1	-	3	1968_1969	c.1867_1868delAG	c.(1867-1869)agtfs	p.S623fs		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	623					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.L624fs*39(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCTCAGCAGACTCTGTTCTTGC	0.5																																																1	Deletion - Frameshift(1)	ovary(1)	10																																								30357216	SO:0001589	frameshift_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1867_1868delAG	10.37:g.30317211_30317212delCT	ENSP00000364526:p.Ser623fs		30357215	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Frame_Shift_Del	DEL	ENST00000375377.1	37	CCDS41500.1																																																																																				0.5	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		-	30317210	CT	-	30317209	7	5	129	1	0	1	0	1	0	0	0	0	8234	565	20	0	2219	0	KIAA1462	10	30317209	Frame_Shift_Del	DEL	CT	TCGA-13-1481-01A-01W-0549-09	30223914	30317209	105217538	61	7030											
ZNF32	7580	genome.wustl.edu	37	10	44140100	44140100	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr10:44140100G>T	ENST00000395797.1	-	3	408	c.220C>A	c.(220-222)Caa>Aaa	p.Q74K	ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.Q74K	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q74K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TAGACCCTTTGTCTCACTCCA	0.443																																																1	Substitution - Missense(1)	ovary(1)	10											140	138	138					10																	44140100		2203	4300	6503	43460106	SO:0001583	missense	7580			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.220C>A	10.37:g.44140100G>T	ENSP00000379143:p.Gln74Lys		43460106	Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	G	9.875	1.199912	0.22121	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.04194	3.68;3.68	4.52	4.52	0.55395	.	0.163795	0.29266	N	0.012650	T	0.03263	0.0095	N	0.08118	0	0.32468	N	0.543253	B	0.28933	0.228	B	0.27608	0.081	T	0.17319	-1.0373	10	0.59425	D	0.04	-13.0695	13.0593	0.58997	0.0:0.0:1.0:0.0	.	74	P17041	ZNF32_HUMAN	K	74	ENSP00000363556:Q74K;ENSP00000379143:Q74K	ENSP00000363556:Q74K	Q	-	1	0	ZNF32	43460106	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	3.388000	0.52509	2.796000	0.96246	0.655000	0.94253	CAA		0.443	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		T	44140100	G	T	44140100	3	4	129	1	0	0	0	0	1	0	0	0	17838	1386	48	3	605	3	ZNF32	10	44140100	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	13822891	44140100	91394647	62	7031											
ZMIZ1	57178	genome.wustl.edu	37	10	81064923	81064923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr10:81064923C>A	ENST00000334512.5	+	20	2861	c.2289C>A	c.(2287-2289)tgC>tgA	p.C763*	ZMIZ1_ENST00000446377.2_5'Flank	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	763					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C763*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GTCTGCAGTGCTTTGATCTGG	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	10											109	91	97					10																	81064923		2203	4300	6503	80734929	SO:0001587	stop_gained	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2289C>A	10.37:g.81064923C>A	ENSP00000334474:p.Cys763*		80734929	Q5JSH9|Q7Z7E6	Nonsense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	44	10.884706	0.99483	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	.	.	.	5.27	4.17	0.49024	.	0.000000	0.46145	D	0.000320	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0627	9.7167	0.40278	0.0:0.7825:0.0:0.2175	.	.	.	.	X	763;693;667	.	ENSP00000334474:C763X	C	+	3	2	ZMIZ1	80734929	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.478000	0.35442	2.475000	0.83589	0.591000	0.81541	TGC		0.562	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		A	81064923	C	A	81064923	4	1	129	1	0	0	0	0	0	1	0	0	17696	805	28	3	2351	3	ZMIZ1	10	81064923	Nonsense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	36924823	81064923	54469824	63	7032											
NUP160	23279	genome.wustl.edu	37	11	47830021	47830021	+	Missense_Mutation	SNP	G	G	A	rs577593068		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr11:47830021G>A	ENST00000378460.2	-	18	2348	c.2302C>T	c.(2302-2304)Ccc>Tcc	p.P768S	NUP160_ENST00000528071.1_Missense_Mutation_p.P654S|NUP160_ENST00000530326.1_Missense_Mutation_p.P654S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	768					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.P768S(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGAGTAGGGGAGCTGTTCGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											112	97	102					11																	47830021		2201	4298	6499	47786597	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2302C>T	11.37:g.47830021G>A	ENSP00000367721:p.Pro768Ser		47786597	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151543	0.57151	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.40225	1.61;1.04;1.04	6.02	6.02	0.97574	.	0.302747	0.36374	N	0.002621	T	0.31575	0.0801	L	0.27053	0.805	0.80722	D	1	B	0.31435	0.323	B	0.27380	0.079	T	0.10567	-1.0624	10	0.09843	T	0.71	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	768	Q12769	NU160_HUMAN	S	768;654;654	ENSP00000367721:P768S;ENSP00000433590:P654S;ENSP00000432367:P654S	ENSP00000367721:P768S	P	-	1	0	NUP160	47786597	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	5.384000	0.66225	2.857000	0.98124	0.650000	0.86243	CCC		0.413	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		A	47830021	G	A	47830021	3	1	129	1	0	0	0	0	1	0	0	0	10757	1174	41	2	2084	2	NUP160	11	47830021	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09		47830021	87176495	64	7033											
CCDC87	55231	genome.wustl.edu	37	11	66360237	66360237	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr11:66360237T>A	ENST00000333861.3	-	1	317	c.250A>T	c.(250-252)Atc>Ttc	p.I84F	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	84					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.I84F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATGACCTTGATGAGACGTAGT	0.647											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											37	38	38					11																	66360237		2200	4295	6495	66116813	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.250A>T	11.37:g.66360237T>A	ENSP00000328487:p.Ile84Phe	1091	66116813	Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048588	0.36181	.	.	ENSG00000182791	ENST00000333861	T	0.30182	1.54	5.39	3.01	0.34805	.	0.813328	0.10027	N	0.725253	T	0.17916	0.0430	N	0.22421	0.69	0.09310	N	0.999999	P	0.39964	0.697	B	0.35353	0.201	T	0.13575	-1.0504	10	0.56958	D	0.05	-0.3396	4.3894	0.11332	0.0:0.1038:0.2042:0.692	.	84	Q9NVE4	CCD87_HUMAN	F	84	ENSP00000328487:I84F	ENSP00000328487:I84F	I	-	1	0	CCDC87	66116813	0.616000	0.27035	0.333000	0.25482	0.400000	0.30750	0.656000	0.24948	1.037000	0.40024	0.533000	0.62120	ATC		0.647	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		A	66360237	T	A	66360237	3	1	129	1	0	0	0	0	1	0	0	0	2862	1464	51	5	2303	5	CCDC87	11	66360237	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	18530216	66360237	68646279	65	7034											
YAP1	10413	genome.wustl.edu	37	11	102100666	102100666	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr11:102100666T>A	ENST00000282441.5	+	9	1898	c.1510T>A	c.(1510-1512)Tta>Ata	p.L504I	YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000537274.1_Missense_Mutation_p.L492I|YAP1_ENST00000345877.2_Missense_Mutation_p.L454I|YAP1_ENST00000526343.1_Missense_Mutation_p.L450I|YAP1_ENST00000531439.1_Missense_Mutation_p.L488I|YAP1_ENST00000524575.1_Missense_Mutation_p.L326I|RP11-864G5.3_ENST00000526310.1_RNA	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	504	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L454I(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCTTACATGGTTATAGAGCCC	0.433																																					Colon(50;247 1103 7861 28956)											1	Substitution - Missense(1)	ovary(1)	11											94	99	97					11																	102100666		2203	4299	6502	101605876	SO:0001583	missense	10413				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1510T>A	11.37:g.102100666T>A	ENSP00000282441:p.Leu504Ile		101605876	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096689	0.76870	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	T;T;T	0.67523	-0.27;-0.24;-0.12	6.17	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	N	0.24115	0.695	0.58432	D	0.999996	P;D;D;D;D;D	0.89917	0.956;0.999;0.997;1.0;0.998;0.998	D;D;D;D;D;D	0.91635	0.931;0.995;0.978;0.999;0.984;0.99	T	0.63274	-0.6674	10	0.30854	T	0.27	.	10.6706	0.45755	0.0:0.1283:0.0:0.8717	.	326;421;450;488;504;454	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.;.;.;.;YAP1_HUMAN;.	I	450;504;492;454;421;488;326	ENSP00000434134:L450I;ENSP00000331023:L454I;ENSP00000435602:L326I	ENSP00000282441:L504I	L	+	1	2	YAP1	101605876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.956000	0.40382	0.567000	0.29293	0.533000	0.62120	TTA		0.433	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		A	102100666	T	A	102100666	3	1	129	1	0	0	0	0	1	0	0	0	17466	1722	60	5	1556	5	YAP1	11	102100666	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	35740429	102100666	32905850	66	7035											
PHLDB1	23187	genome.wustl.edu	37	11	118501932	118501933	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	GC	GC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr11:118501932_118501933GC>CT	ENST00000361417.2	+	8	2247_2248	c.1836_1837GC>CT	c.(1834-1839)caGCgc>caCTgc	p.612_613QR>HC	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.612_613QR>HC	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	612								p.Q612_R613>HC(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGAACGCCAGCGCCTGGAGAC	0.624																																																1	Complex - compound substitution(1)	ovary(1)	11																																								118007143	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	Exception_encountered	11.37:g.118501932_118501933delinsCT	ENSP00000354498:p.Q612_R613delinsHC		118007142	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	DNP	ENST00000361417.2	37	CCDS8401.1																																																																																				0.624	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		CT	118501933	GC	CT	118501932	3	2	129	1	0	0	0	0	1	0	0	0	11851	962	34	3	1858	3	PHLDB1	11	118501932	Missense_Mutation	DNP	GC	TCGA-13-1481-01A-01W-0549-09	16401266	118501932	16504584	67	7036											
ANKRD33	341405	genome.wustl.edu	37	12	52284732	52284732	+	Silent	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr12:52284732G>A	ENST00000340970.4	+	5	998	c.627G>A	c.(625-627)tcG>tcA	p.S209S	ANKRD33_ENST00000538991.1_Silent_p.S140S|ANKRD33_ENST00000301190.6_Silent_p.S334S|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	209					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.S334S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ATCCACCTTCGCTGGGCACCC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	12											50	34	39					12																	52284732		2203	4299	6502	50570999	SO:0001819	synonymous_variant	341405				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.627G>A	12.37:g.52284732G>A			50570999	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Silent	SNP	ENST00000340970.4	37	CCDS44892.1																																																																																				0.662	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		A	52284732	G	A	52284732	2	1	129	1	0	0	0	0	0	0	0	1	661	1074	38	1		1	ANKRD33	12	52284732	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09		52284732	81567163	68	7037											
NACA	4666	genome.wustl.edu	37	12	57106972	57106972	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr12:57106972G>C	ENST00000454682.1	-	7	6254	c.5973C>G	c.(5971-5973)atC>atG	p.I1991M	NACA_ENST00000550952.1_Missense_Mutation_p.I838M|NACA_ENST00000393891.4_Missense_Mutation_p.I128M|NACA_ENST00000548563.1_Missense_Mutation_p.I49M|NACA_ENST00000356769.3_Missense_Mutation_p.I128M|NACA_ENST00000546392.1_Missense_Mutation_p.I128M|NACA_ENST00000552540.1_Missense_Mutation_p.I128M|NACA_ENST00000551793.1_5'Flank	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1991	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I128M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATAAATCTTCGATCTACAGGG	0.383			T	BCL6	NHL																																		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	1	Substitution - Missense(1)	ovary(1)	12											51	47	48					12																	57106972		2203	4300	6503	55393239	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5973C>G	12.37:g.57106972G>C	ENSP00000403817:p.Ile1991Met		55393239		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	G	15.88	2.964661	0.53507	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000548563;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000546862	T;T;T;T;T;T;T;T;T	0.56103	0.69;0.56;0.48;0.69;0.69;0.69;0.69;0.69;0.65	5.31	-9.06	0.00727	Nascent polypeptide-associated complex NAC (2);	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	M	0.83118	2.625	0.51012	D	0.999903	P;D;B	0.54964	0.953;0.969;0.093	D;D;B	0.64776	0.929;0.912;0.162	T	0.76121	-0.3075	10	0.62326	D	0.03	.	11.5927	0.50955	0.7838:0.0:0.1336:0.0826	.	1991;838;128	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	M	126;1991;838;128;128;128;49;128;128;124;49	ENSP00000448039:I126M;ENSP00000403817:I1991M;ENSP00000448035:I838M;ENSP00000349212:I128M;ENSP00000447821:I128M;ENSP00000377469:I128M;ENSP00000446801:I128M;ENSP00000447133:I128M;ENSP00000450383:I124M	ENSP00000349212:I128M	I	-	3	3	NACA	55393239	0.072000	0.21174	0.833000	0.33012	0.316000	0.28119	-0.544000	0.06077	-1.273000	0.02424	-0.259000	0.10710	ATC		0.383	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		C	57106972	G	C	57106972	3	2	129	1	0	0	0	0	1	0	0	0	10133	1048	37	3	275	3	NACA	12	57106972	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	4822240	57106972	76744923	69	7038											
GLI1	2735	genome.wustl.edu	37	12	57864419	57864419	+	Missense_Mutation	SNP	T	T	A	rs140787723	byFrequency	TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr12:57864419T>A	ENST00000228682.2	+	12	1987	c.1896T>A	c.(1894-1896)aaT>aaA	p.N632K	GLI1_ENST00000546141.1_Missense_Mutation_p.N591K|GLI1_ENST00000543426.1_Missense_Mutation_p.N504K	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	632					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.N632K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACAACCCCAATGCAGGGGTCA	0.617																																					Pancreas(157;841 1936 10503 41495 50368)											1	Substitution - Missense(1)	ovary(1)	12											42	43	43					12																	57864419		2203	4300	6503	56150686	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1896T>A	12.37:g.57864419T>A	ENSP00000228682:p.Asn632Lys		56150686	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809588	0.31961	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.12361	2.78;2.69;2.77;2.77	4.39	2.01	0.26516	.	0.132195	0.34725	N	0.003722	T	0.04543	0.0124	N	0.14661	0.345	0.35482	D	0.798213	P	0.48764	0.915	B	0.31946	0.138	T	0.47774	-0.9091	10	0.33940	T	0.23	.	3.2479	0.06803	0.1709:0.2824:0.0:0.5467	.	632	P08151	GLI1_HUMAN	K	504;632;591;591	ENSP00000437607:N504K;ENSP00000228682:N632K;ENSP00000441006:N591K;ENSP00000434408:N591K	ENSP00000228682:N632K	N	+	3	2	GLI1	56150686	0.005000	0.15991	0.998000	0.56505	0.967000	0.64934	-1.009000	0.03660	0.319000	0.23209	0.402000	0.26972	AAT		0.617	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		A	57864419	T	A	57864419	3	1	129	1	0	0	0	0	1	0	0	0	6437	1461	51	5	1938	5	GLI1	12	57864419	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	757447	57864419	75987476	70	7039											
MGAT4C	25834	genome.wustl.edu	37	12	86373591	86373591	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr12:86373591T>C	ENST00000604798.1	-	8	2117	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E	MGAT4C_ENST00000548651.1_Missense_Mutation_p.K305E|MGAT4C_ENST00000549405.2_Missense_Mutation_p.K305E|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K305E|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K305E|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K334E			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	305					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.K305E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGAGATGGTTTAAAACGGATC	0.378																																																1	Substitution - Missense(1)	ovary(1)	12											83	80	81					12																	86373591		2203	4300	6503	84897722	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.913A>G	12.37:g.86373591T>C	ENSP00000474896:p.Lys305Glu		84897722	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253576	0.22965	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.75	4.6	0.57074	.	0.104283	0.64402	D	0.000006	T	0.57961	0.2089	M	0.83774	2.66	0.43771	D	0.996296	P;P	0.48640	0.913;0.855	P;P	0.48334	0.574;0.574	T	0.60632	-0.7225	10	0.39692	T	0.17	-4.0852	12.3605	0.55201	0.1264:0.0:0.0:0.8736	.	334;305	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	E	305;334;305;305;305;305;305	ENSP00000331664:K305E;ENSP00000376900:K334E;ENSP00000449022:K305E;ENSP00000446647:K305E;ENSP00000447253:K305E;ENSP00000449172:K305E	ENSP00000331664:K305E	K	-	1	0	MGAT4C	84897722	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	8.033000	0.88852	0.989000	0.38761	-0.335000	0.08231	AAA		0.378	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		C	86373591	T	C	86373591	3	2	129	1	0	0	0	0	1	0	0	0	9547	1763	61	4	527	4	MGAT4C	12	86373591	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	28509172	86373591	47478304	71	7040											
OAS1	4938	genome.wustl.edu	37	12	113348909	113348909	+	Missense_Mutation	SNP	G	G	A	rs148820389		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr12:113348909G>A	ENST00000202917.5	+	3	786	c.523G>A	c.(523-525)Gag>Aag	p.E175K	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000452357.2_Missense_Mutation_p.E175K|OAS1_ENST00000551241.1_Missense_Mutation_p.E175K|OAS1_ENST00000445409.2_Missense_Mutation_p.E175K	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	175					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.E175K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CAAGCTCATCGAGGAGTGCAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	12						G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	102	89	94		523,523,523	-8.6	0	12	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	OAS1	NM_001032409.1,NM_002534.2,NM_016816.2	56,56,56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	175/415,175/365,175/401	113348909	2,13004	2203	4300	6503	111833292	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.523G>A	12.37:g.113348909G>A	ENSP00000202917:p.Glu175Lys		111833292	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.042|2.042	-0.419783|-0.419783	0.04734|0.04734	0.0|0.0	2.33E-4|2.33E-4	ENSG00000089127|ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689|ENST00000549820	T;T;T;T;T|.	0.06449|.	3.3;3.3;3.3;3.3;3.3|.	4.31|4.31	-8.63|-8.63	0.00878|0.00878	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);|.	5.377260|.	0.00508|.	N|.	0.000166|.	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.03983|0.03983	-0.305|-0.305	0.09310|0.09310	N|N	1|1	B;B;B;B;B|P	0.10296|0.34587	0.0;0.001;0.0;0.003;0.001|0.458	B;B;B;B;B|B	0.08055|0.31245	0.001;0.001;0.002;0.003;0.001|0.126	T|T	0.45469|0.45469	-0.9259|-0.9259	10|8	0.20519|0.87932	T|D	0.43|0	3.8379|3.8379	5.0312|5.0312	0.14411|0.14411	0.5684:0.0952:0.2104:0.126|0.5684:0.0952:0.2104:0.126	.|.	175;175;175;175;175|159	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2|B4DWE7	.;.;OAS1_HUMAN;.;.|.	K|Q	175;175;175;175;175;171|159	ENSP00000202917:E175K;ENSP00000388001:E175K;ENSP00000415721:E175K;ENSP00000448790:E175K;ENSP00000448348:E171K|.	ENSP00000202917:E175K|ENSP00000449348:R159Q	E|R	+|+	1|2	0|0	OAS1|OAS1	111833292|111833292	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-6.883000|-6.883000	0.00050|0.00050	-4.590000|-4.590000	0.00041|0.00041	-3.586000|-3.586000	0.00029|0.00029	GAG|CGA		0.512	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			A	113348909	G	A	113348909	3	1	129	1	0	0	0	0	1	0	0	0	10799	1059	37	1	533	1	OAS1	12	113348909	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	26975318	113348909	20502986	72	7041											
FBXW8	26259	genome.wustl.edu	37	12	117365883	117365883	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr12:117365883T>C	ENST00000309909.5	+	2	456	c.374T>C	c.(373-375)aTc>aCc	p.I125T	FBXW8_ENST00000455858.2_Missense_Mutation_p.I59T			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	125	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.I125T(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GAATTGGCAATCAATATATTT	0.348																																																1	Substitution - Missense(1)	ovary(1)	12											116	107	110					12																	117365883		2203	4300	6503	115850266	SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.374T>C	12.37:g.117365883T>C	ENSP00000310686:p.Ile125Thr		115850266	Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004634	0.74932	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.46819	0.86;0.86	5.73	5.73	0.89815	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.242952	0.32416	N	0.006122	T	0.46210	0.1381	L	0.43152	1.355	0.40557	D	0.981177	P;P	0.44521	0.837;0.763	B;B	0.43225	0.412;0.229	T	0.52609	-0.8553	10	0.87932	D	0	-15.9761	15.2004	0.73132	0.0:0.0:0.0:1.0	.	125;59	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	T	125;59;59	ENSP00000310686:I125T;ENSP00000389144:I59T	ENSP00000310686:I125T	I	+	2	0	FBXW8	115850266	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.886000	0.75611	2.186000	0.69663	0.454000	0.30748	ATC		0.348	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		C	117365883	T	C	117365883	3	2	129	1	0	0	0	0	1	0	0	0	5770	1435	50	4	380	4	FBXW8	12	117365883	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	4016974	117365883	16486012	73	7042											
BRCA2	675	genome.wustl.edu	37	13	32937426	32937441	+	Frame_Shift_Del	DEL	TGAGCGCAAATATATC	TGAGCGCAAATATATC	-	rs80359053|rs80359052|rs80359051|rs80359050|rs587782781|rs587782365|rs140782158		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	TGAGCGCAAATATATC	TGAGCGCAAATATATC	TGAGCGCAAATATATC	-	TGAGCGCAAATATATC	TGAGCGCAAATATATC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr13:32937426_32937441delTGAGCGCAAATATATC	ENST00000380152.3	+	18	8320_8335	c.8087_8102delTGAGCGCAAATATATC	c.(8086-8103)ttgagcgcaaatatatctfs	p.LSANIS2696fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.LSANIS2696fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2696					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S2697fs*31(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATAATTTCATTGAGCGCAAATATATCTGAAACTTCT	0.375			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	1	Deletion - Frameshift(1)	ovary(1)	13																																								31835441	SO:0001589	frameshift_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8087_8102delTGAGCGCAAATATATC	13.37:g.32937426_32937441delTGAGCGCAAATATATC	ENSP00000369497:p.Leu2696fs		31835426	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	CCDS9344.1																																																																																				0.375	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		-	32937441	TGAGCGCAAATATATC	-	32937426	7	5	129	1	0	1	0	1	0	0	0	0	1499	1821	63	0	8153	0	BRCA2	13	32937426	Frame_Shift_Del	DEL	TGAGCGCAAATATATC	TCGA-13-1481-01A-01W-0549-09		32937426	82232452	74	7043											
OR4K2	390431	genome.wustl.edu	37	14	20345280	20345280	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr14:20345280T>A	ENST00000298642.2	+	1	890	c.854T>A	c.(853-855)aTa>aAa	p.I285K		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I285K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGAACCCAATAATCTATACT	0.373																																																1	Substitution - Missense(1)	ovary(1)	14											104	109	107					14																	20345280		2203	4300	6503	19415120	SO:0001583	missense	390431				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.854T>A	14.37:g.20345280T>A	ENSP00000298642:p.Ile285Lys		19415120	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.338268	0.24253	.	.	ENSG00000165762	ENST00000298642	T	0.48201	0.82	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.823370	0.10208	N	0.702471	T	0.59224	0.2178	M	0.80982	2.52	0.24667	N	0.99344	B	0.26081	0.141	B	0.36289	0.221	T	0.57021	-0.7882	10	0.87932	D	0	.	12.9843	0.58583	0.0:0.0:0.0:1.0	.	285	Q8NGD2	OR4K2_HUMAN	K	285	ENSP00000298642:I285K	ENSP00000298642:I285K	I	+	2	0	OR4K2	19415120	0.957000	0.32711	0.110000	0.21437	0.054000	0.15201	7.454000	0.80714	2.165000	0.68154	0.482000	0.46254	ATA		0.373	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			A	20345280	T	A	20345280	3	1	129	1	0	0	0	0	1	0	0	0	11072	1406	49	5	856	5	OR4K2	14	20345280	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09		20345280	87004260	75	7044											
PSME1	5720	genome.wustl.edu	37	14	24607315	24607315	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr14:24607315G>T	ENST00000206451.6	+	7	553	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000561435.1_Missense_Mutation_p.V150L|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000382708.3_Missense_Mutation_p.V150L	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)	p.V150L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		CAATTTTGGAGTGGCTGTCCA	0.527																																																1	Substitution - Missense(1)	ovary(1)	14											132	125	127					14																	24607315		2203	4300	6503	23677155	SO:0001583	missense	5720				CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"Proteasome (prosome, macropain) subunits"	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.448G>T	14.37:g.24607315G>T	ENSP00000206451:p.Val150Leu		23677155	A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	ENST00000206451.6	37	CCDS9612.1	.	.	.	.	.	.	.	.	.	.	g	15.90	2.969840	0.53614	.	.	ENSG00000092010	ENST00000206451;ENST00000382708	T;T	0.55234	0.53;0.53	5.14	5.14	0.70334	Proteasome activator pa28, REG beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.78817	0.4343	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.83937	0.0309	10	0.87932	D	0	-12.4076	16.156	0.81666	0.0:0.0:1.0:0.0	.	150;150	A6NJG9;Q06323	.;PSME1_HUMAN	L	150	ENSP00000206451:V150L;ENSP00000372155:V150L	ENSP00000206451:V150L	V	+	1	0	PSME1	23677155	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.728000	0.84847	2.687000	0.91594	0.655000	0.94253	GTG		0.527	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		T	24607315	G	T	24607315	3	4	129	1	0	0	0	0	1	0	0	0	12709	1029	36	3	474	3	PSME1	14	24607315	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	4262035	24607315	82742225	76	7045											
ARHGAP5	394	genome.wustl.edu	37	14	32560545	32560545	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr14:32560545G>T	ENST00000345122.3	+	2	985	c.670G>T	c.(670-672)Gta>Tta	p.V224L	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V224L|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V224L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V224L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	224					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.V224L(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GAACCTTCTTGTAGTGGAAAC	0.338																																					NSCLC(9;77 350 3443 29227 41353)											1	Substitution - Missense(1)	ovary(1)	14											80	86	84					14																	32560545		2202	4298	6500	31630296	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.670G>T	14.37:g.32560545G>T	ENSP00000371897:p.Val224Leu		31630296	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	4.838	0.155846	0.09236	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.78	5.78	0.91487	.	0.064498	0.64402	D	0.000008	T	0.60117	0.2244	N	0.10782	0.045	0.45452	D	0.998423	B;B	0.15930	0.012;0.015	B;B	0.23275	0.026;0.045	T	0.54503	-0.8284	10	0.17832	T	0.49	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	224;224	Q13017-2;Q13017	.;RHG05_HUMAN	L	224	ENSP00000452222:V224L;ENSP00000441692:V224L;ENSP00000371897:V224L;ENSP00000393307:V224L	ENSP00000371897:V224L	V	+	1	0	ARHGAP5	31630296	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.292000	0.59031	2.717000	0.92951	0.655000	0.94253	GTA		0.338	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		T	32560545	G	T	32560545	3	4	129	1	0	0	0	0	1	0	0	0	886	1377	48	3	672	3	ARHGAP5	14	32560545	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	7953230	32560545	74788995	77	7046											
FRMD6	122786	genome.wustl.edu	37	14	52194515	52194515	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr14:52194515A>G	ENST00000344768.5	+	14	1833	c.1637A>G	c.(1636-1638)gAt>gGt	p.D546G	FRMD6_ENST00000554167.1_Missense_Mutation_p.D469G|FRMD6_ENST00000553556.1_Missense_Mutation_p.D188G|FRMD6_ENST00000395718.2_Missense_Mutation_p.D538G|FRMD6_ENST00000356218.4_Missense_Mutation_p.D538G			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	546					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.D538G(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TTGAGCCTCGATGACATCAGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	14											163	139	147					14																	52194515		2203	4300	6503	51264265	SO:0001583	missense	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1637A>G	14.37:g.52194515A>G	ENSP00000343899:p.Asp546Gly		51264265	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632903	0.87660	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	D;D;D;D	0.88431	-2.38;-2.38;-2.15;-1.98	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.92685	0.7675	L	0.55481	1.735	0.80722	D	1	D;D;D	0.76494	0.997;0.994;0.999	D;P;D	0.66979	0.94;0.822;0.948	D	0.93238	0.6623	10	0.72032	D	0.01	.	16.1099	0.81255	1.0:0.0:0.0:0.0	.	469;546;538	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	G	538;538;546;469;188	ENSP00000348550:D538G;ENSP00000379068:D538G;ENSP00000343899:D546G;ENSP00000451977:D469G	ENSP00000343899:D546G	D	+	2	0	FRMD6	51264265	1.000000	0.71417	0.991000	0.47740	0.736000	0.42039	9.339000	0.96797	2.285000	0.76669	0.533000	0.62120	GAT		0.458	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		G	52194515	A	G	52194515	3	3	129	1	0	0	0	0	1	0	0	0	6054	333	12	4	1663	4	FRMD6	14	52194515	Missense_Mutation	SNP	A	TCGA-13-1481-01A-01W-0549-09	19633970	52194515	55155025	78	7047											
FBLN5	10516	genome.wustl.edu	37	14	92347652	92347652	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr14:92347652G>C	ENST00000342058.4	-	9	1566	c.973C>G	c.(973-975)Ctg>Gtg	p.L325V	FBLN5_ENST00000267620.10_Missense_Mutation_p.L366V|FBLN5_ENST00000556154.1_Missense_Mutation_p.L330V	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	325	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.L325V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTGATCCTCAGATAAGGCTCC	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											92	75	81					14																	92347652		2203	4300	6503	91417405	SO:0001583	missense	10516			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.973C>G	14.37:g.92347652G>C	ENSP00000345008:p.Leu325Val		91417405	O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.554217	0.00918	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.91945	-2.94;-2.94;-2.94	5.5	2.36	0.29203	.	0.133960	0.46442	D	0.000293	T	0.77198	0.4095	N	0.02247	-0.625	0.31457	N	0.669983	B;B;B	0.13145	0.007;0.001;0.0	B;B;B	0.16289	0.015;0.002;0.001	T	0.66176	-0.5989	10	0.02654	T	1	.	15.0794	0.72103	0.0:0.0:0.4229:0.5771	.	366;330;325	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	V	366;325;330	ENSP00000267620:L366V;ENSP00000345008:L325V;ENSP00000451982:L330V	ENSP00000267620:L422V	L	-	1	2	FBLN5	91417405	1.000000	0.71417	0.339000	0.25562	0.452000	0.32318	0.997000	0.29731	0.727000	0.32360	0.655000	0.94253	CTG		0.537	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			C	92347652	G	C	92347652	3	2	129	1	0	0	0	0	1	0	0	0	5700	933	33	3	385	3	FBLN5	14	92347652	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	40153137	92347652	15001888	79	7048											
BDKRB2	624	genome.wustl.edu	37	14	96707828	96707828	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr14:96707828G>A	ENST00000306005.3	+	3	1359	c.1163G>A	c.(1162-1164)gGg>gAg	p.G388E	BDKRB2_ENST00000539359.1_Missense_Mutation_p.G361E|BDKRB2_ENST00000554311.1_Missense_Mutation_p.G388E|BDKRB2_ENST00000542454.2_Missense_Mutation_p.G361E|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	388					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.G388E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GACTGGGCAGGGAGCAGACAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	14											38	42	41					14																	96707828		2203	4300	6503	95777581	SO:0001583	missense	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.1163G>A	14.37:g.96707828G>A	ENSP00000307713:p.Gly388Glu		95777581		Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.400341	0.00195	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.71579	-0.58;-0.57;-0.57;-0.58	3.93	-0.46	0.12175	.	1.165010	0.06534	N	0.742018	T	0.44829	0.1312	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29671	-1.0004	10	0.46703	T	0.11	-9.8017	0.5599	0.00677	0.1951:0.2448:0.2837:0.2763	.	388	P30411	BKRB2_HUMAN	E	361;388;388;361	ENSP00000439459:G361E;ENSP00000450482:G388E;ENSP00000307713:G388E;ENSP00000438376:G361E	ENSP00000307713:G388E	G	+	2	0	BDKRB2	95777581	0.000000	0.05858	0.003000	0.11579	0.363000	0.29612	0.578000	0.23773	0.093000	0.17368	0.491000	0.48974	GGG		0.557	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			A	96707828	G	A	96707828	3	1	129	1	0	0	0	0	1	0	0	0	1393	1232	43	2	1169	2	BDKRB2	14	96707828	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	4360176	96707828	10641712	80	7049											
CDAN1	146059	genome.wustl.edu	37	15	43017413	43017413	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr15:43017413C>G	ENST00000356231.3	-	27	3510	c.3487G>C	c.(3487-3489)Gag>Cag	p.E1163Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1163					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1163Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGACCCTTCTCCACCAGCTCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	15											69	65	66					15																	43017413		2203	4299	6502	40804705	SO:0001583	missense	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.3487G>C	15.37:g.43017413C>G	ENSP00000348564:p.Glu1163Gln		40804705	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658315	0.88154	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.88896	-2.44	6.07	5.16	0.70880	.	0.180420	0.64402	D	0.000014	D	0.91811	0.7409	M	0.61703	1.905	0.43485	D	0.995713	D;P	0.61080	0.989;0.933	P;P	0.58266	0.836;0.542	D	0.92380	0.5912	10	0.72032	D	0.01	-9.1808	13.1502	0.59484	0.0:0.9233:0.0:0.0767	.	1163;1161	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	Q	1163;1161	ENSP00000348564:E1163Q	ENSP00000267892:E1161Q	E	-	1	0	CDAN1	40804705	0.920000	0.31207	0.998000	0.56505	0.982000	0.71751	1.994000	0.40757	1.583000	0.49898	0.655000	0.94253	GAG		0.577	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		G	43017413	C	G	43017413	3	3	129	1	0	0	0	0	1	0	0	0	3054	864	30	3	204	3	CDAN1	15	43017413	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09		43017413	59513979	81	7050											
TUBGCP4	27229	genome.wustl.edu	37	15	43668412	43668412	+	Silent	SNP	T	T	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr15:43668412T>C	ENST00000260383.7	+	2	449	c.195T>C	c.(193-195)caT>caC	p.H65H	TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000399460.3_5'Flank|TUBGCP4_ENST00000564079.1_Silent_p.H65H			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	65					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.H65H(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ACACGGGCCATGTGCAACAGC	0.542											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	15											95	93	94					15																	43668412		1958	4162	6120	41455704	SO:0001819	synonymous_variant	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.195T>C	15.37:g.43668412T>C		918	41455704	B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37																																																																																					0.542	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		C	43668412	T	C	43668412	2	2	129	1	0	0	0	0	0	0	0	1	16768	1461	51	4		4	TUBGCP4	15	43668412	Silent	SNP	T	TCGA-13-1481-01A-01W-0549-09	650999	43668412	58862980	82	7051											
CSPG4	1464	genome.wustl.edu	37	15	75969142	75969142	+	Silent	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr15:75969142G>A	ENST00000308508.5	-	10	5810	c.5718C>T	c.(5716-5718)ttC>ttT	p.F1906F	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1906	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.F1906F(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGTTGGCCACGAAGGCCAGCC	0.667																																																1	Substitution - coding silent(1)	ovary(1)	15											28	29	29					15																	75969142		2197	4290	6487	73756197	SO:0001819	synonymous_variant	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5718C>T	15.37:g.75969142G>A			73756197	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																				0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		A	75969142	G	A	75969142	2	1	129	1	0	0	0	0	0	0	0	1	3960	1049	37	1		1	CSPG4	15	75969142	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09	32300730	75969142	26562250	83	7052											
ABHD2	11057	genome.wustl.edu	37	15	89719205	89719205	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr15:89719205G>C	ENST00000352732.5	+	6	1221	c.701G>C	c.(700-702)tGc>tCc	p.C234S	ABHD2_ENST00000565973.1_Missense_Mutation_p.C234S|ABHD2_ENST00000355100.3_Missense_Mutation_p.C234S	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	234					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.C234S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GTCAGCGTGTGCCAGGGGTAC	0.552																																					Colon(11;252 417 24570 33239 41878)											1	Substitution - Missense(1)	ovary(1)	15											117	100	106					15																	89719205		2200	4299	6499	87520209	SO:0001583	missense	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.701G>C	15.37:g.89719205G>C	ENSP00000268129:p.Cys234Ser		87520209	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428135	0.83667	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.34859	1.34;1.34	5.55	5.55	0.83447	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.39064	0.1064	L	0.52759	1.655	0.80722	D	1	P	0.36683	0.565	B	0.40659	0.336	T	0.09292	-1.0681	10	0.13108	T	0.6	-0.6583	19.5044	0.95110	0.0:0.0:1.0:0.0	.	234	P08910	ABHD2_HUMAN	S	234	ENSP00000268129:C234S;ENSP00000347217:C234S	ENSP00000268129:C234S	C	+	2	0	ABHD2	87520209	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.859000	0.99545	2.591000	0.87537	0.643000	0.83706	TGC		0.552	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			C	89719205	G	C	89719205	3	2	129	1	0	0	0	0	1	0	0	0	82	1319	46	3	715	3	ABHD2	15	89719205	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	13750063	89719205	12812187	84	7053											
MKL2	57496	genome.wustl.edu	37	16	14234531	14234542	+	In_Frame_Del	DEL	CTCAGAGTGAAG	CTCAGAGTGAAG	-			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	CTCAGAGTGAAG	CTCAGAGTGAAG	CTCAGAGTGAAG	-	CTCAGAGTGAAG	CTCAGAGTGAAG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr16:14234531_14234542delCTCAGAGTGAAG	ENST00000574045.1	+	3	223_234	c.68_79delCTCAGAGTGAAG	c.(67-81)cctcagagtgaagct>cct	p.QSEA24del	MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000318282.5_In_Frame_Del_p.QSEA24del|MKL2_ENST00000571589.1_In_Frame_Del_p.QSEA24del			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q24_A27del(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTCCAAGTCCTCAGAGTGAAGCTGTGGCTCA	0.505																																																1	Deletion - In frame(1)	ovary(1)	16																																								14142043	SO:0001651	inframe_deletion	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000574045.1:c.68_79delCTCAGAGTGAAG	16.37:g.14234531_14234542delCTCAGAGTGAAG	ENSP00000459205:p.Gln24_Ala27del		14142032	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	In_Frame_Del	DEL	ENST00000574045.1	37	CCDS32391.1																																																																																				0.505	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436622.1	NM_014048		-	14234542	CTCAGAGTGAAG	-	14234531	7	5	129	1	0	1	0	1	0	0	0	0	9602	681	24	0	70	0	MKL2	16	14234531	In_Frame_Del	DEL	CTCAGAGTGAAG	TCGA-13-1481-01A-01W-0549-09		14234531	76120222	85	7054											
NLRC5	84166	genome.wustl.edu	37	16	57099195	57099195	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr16:57099195G>T	ENST00000262510.6	+	33	4451	c.4226G>T	c.(4225-4227)aGt>aTt	p.S1409I	NLRC5_ENST00000436936.1_Missense_Mutation_p.S1409I|NLRC5_ENST00000308149.7_Missense_Mutation_p.S1380I|NLRC5_ENST00000539144.1_Missense_Mutation_p.S1380I	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1409					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.S1409I(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCTCAGGCAGTGTCACTGAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	16											31	33	32					16																	57099195		2198	4300	6498	55656696	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4226G>T	16.37:g.57099195G>T	ENSP00000262510:p.Ser1409Ile		55656696	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098698	0.20552	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.71579	0.47;-0.58;0.47;-0.58	3.71	-1.59	0.08453	.	.	.	.	.	T	0.44201	0.1282	N	0.14661	0.345	0.09310	N	1	B	0.24823	0.112	B	0.22386	0.039	T	0.24368	-1.0162	9	0.14656	T	0.56	.	3.9495	0.09363	0.4431:0.1991:0.3578:0.0	.	1409	Q86WI3	NLRC5_HUMAN	I	1409;1380;1409;1380	ENSP00000262510:S1409I;ENSP00000308886:S1380I;ENSP00000389739:S1409I;ENSP00000441727:S1380I	ENSP00000262510:S1409I	S	+	2	0	NLRC5	55656696	0.014000	0.17966	0.051000	0.19133	0.962000	0.63368	-0.051000	0.11885	-0.278000	0.09180	-0.321000	0.08615	AGT		0.552	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		T	57099195	G	T	57099195	3	4	129	1	0	0	0	0	1	0	0	0	10470	1029	36	3	4348	3	NLRC5	16	57099195	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	42864664	57099195	33255558	86	7055											
NECAB2	54550	genome.wustl.edu	37	16	84035482	84035482	+	Silent	SNP	C	C	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr16:84035482C>T	ENST00000305202.4	+	12	1110	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	NECAB2_ENST00000565691.1_Silent_p.L282L	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	365	ABM.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.L365L(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						GGTGGACACACTGAGCCAGCC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	16											60	51	54					16																	84035482		2200	4300	6500	82592983	SO:0001819	synonymous_variant	54550			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.1093C>T	16.37:g.84035482C>T			82592983	A2RRG3|O75547|Q6ZSK0	Silent	SNP	ENST00000305202.4	37	CCDS10940.1																																																																																				0.627	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		T	84035482	C	T	84035482	2	4	129	1	0	0	0	0	0	0	0	1	10305	564	20	2		2	NECAB2	16	84035482	Silent	SNP	C	TCGA-13-1481-01A-01W-0549-09	26936287	84035482	6319271	87	7056											
LRRC50	123872	genome.wustl.edu	37	16	84203530	84203530	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr16:84203530C>A	ENST00000378553.5	+	8	1220	c.1096C>A	c.(1096-1098)Ccc>Acc	p.P366T	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.P366T	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	366				P -> L (in Ref. 4; CAH10394). {ECO:0000305}.	axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.P366T(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGAGGAGCCTCCCGGGGACAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	16											70	74	73					16																	84203530		2200	4300	6500	82761031	SO:0001583	missense	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1096C>A	16.37:g.84203530C>A	ENSP00000367815:p.Pro366Thr		82761031	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487205	0.26686	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.34275	1.37;1.81	5.05	-3.85	0.04243	.	1.508580	0.04162	N	0.323144	T	0.28830	0.0715	L	0.51422	1.61	0.09310	N	1	B;B	0.34015	0.435;0.302	B;B	0.29785	0.107;0.068	T	0.18777	-1.0326	10	0.17832	T	0.49	0.2299	9.8746	0.41195	0.0:0.2344:0.6046:0.161	.	130;366	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	T	366	ENSP00000334593:P366T;ENSP00000367815:P366T	ENSP00000334593:P366T	P	+	1	0	DNAAF1	82761031	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.393000	0.07305	-0.907000	0.03862	-0.941000	0.02677	CCC		0.532	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		A	84203530	C	A	84203530	3	1	129	1	0	0	0	0	1	0	0	0	9009	855	30	3	1126	3	LRRC50	16	84203530	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	168048	84203530	6151223	88	7057											
TP53	7157	genome.wustl.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr17:7578400G>C	ENST00000269305.4	-	5	719	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000420246.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.P177R	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)	CTCATGGTGGGGGCAGCGCCT	0.647		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"	92	Substitution - Missense(41)|Deletion - In frame(20)|Deletion - Frameshift(20)|Whole gene deletion(8)|Complex - deletion inframe(3)	large_intestine(15)|breast(12)|upper_aerodigestive_tract(10)|skin(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|stomach(5)|central_nervous_system(5)|lung(4)|liver(4)|oesophagus(4)|bone(4)|pancreas(3)|prostate(3)	17											48	48	48					17																	7578400		2203	4300	6503	7519125	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.530C>G	17.37:g.7578400G>C	ENSP00000269305:p.Pro177Arg		7519125	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	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535580	0.85812	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	N	0.000000	D	0.99894	0.9949	M	0.90082	3.085	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.999;0.962;0.974;1.0;0.882;0.97;0.998	D;P;P;D;P;P;D	0.87578	0.99;0.79;0.86;0.998;0.78;0.867;0.978	D	0.96047	0.9028	10	0.87932	D	0	-24.4396	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177R;ENSP00000352610:P177R;ENSP00000269305:P177R;ENSP00000398846:P177R;ENSP00000391127:P177R;ENSP00000391478:P177R;ENSP00000425104:P45R;ENSP00000423862:P84R	ENSP00000269305:P177R	P	-	2	0	TP53	7519125	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.813000	0.99286	1.475000	0.48197	0.655000	0.94253	CCC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578400	G	C	7578400	3	2	129	1	0	0	0	0	1	0	0	0	16381	1232	43	3	768	3	TP53	17	7578400	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09		7578400	73616810	89	7058											
LSMD1	84316	genome.wustl.edu	37	17	7760635	7760635	+	Intron	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr17:7760635G>A	ENST00000335155.5	-	1	81				LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000333775.5_Missense_Mutation_p.T36I|LSMD1_ENST00000575771.1_Intron|LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000576384.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000570446.1_5'Flank			Q9BRA0	LSMD1_HUMAN							negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)		p.T36I(1)		endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GGGAGCTGCAGTTCCCCACCC	0.692																																					GBM(66;626 1401 29924 42527)											1	Substitution - Missense(1)	ovary(1)	17											20	27	24					17																	7760635		2197	4296	6493	7701360	SO:0001627	intron_variant	84316																														ENST00000335155.5:c.81+65C>T	17.37:g.7760635G>A			7701360	Q8N4M0	Missense_Mutation	SNP	ENST00000335155.5	37		.	.	.	.	.	.	.	.	.	.	G	17.14	3.314595	0.60524	.	.	ENSG00000183011	ENST00000333775	T	0.51071	0.72	5.73	5.73	0.89815	.	0.850908	0.10544	N	0.662327	T	0.69233	0.3088	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.62709	-0.6797	8	.	.	.	.	15.3956	0.74790	0.0:0.0:1.0:0.0	.	36	Q9BRA0-2	.	I	36	ENSP00000332103:T36I	.	T	-	2	0	LSMD1	7701360	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	4.335000	0.59298	2.711000	0.92665	0.561000	0.74099	ACT		0.692	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				A	7760635	G	A	7760635	1	1	129	0	1	0	0	0	0	0	0	0	9062	1029	36	2		2	LSMD1	17	7760635	Intron	SNP	G	TCGA-13-1481-01A-01W-0549-09	182235	7760635	73434575	90	7059											
RARA	5914	genome.wustl.edu	37	17	38511642	38511642	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr17:38511642G>C	ENST00000254066.5	+	8	1595	c.1140G>C	c.(1138-1140)aaG>aaC	p.K380N	RARA_ENST00000394086.3_Missense_Mutation_p.K396N|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.K380N|RARA_ENST00000394081.3_Missense_Mutation_p.K375N|RARA_ENST00000425707.3_Missense_Mutation_p.K283N	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	380	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.K380N(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGCTAATGAAGATTACTGACC	0.647			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL						OREG0024394	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	1	Substitution - Missense(1)	ovary(1)	17											47	44	45					17																	38511642		2203	4300	6503	35765168	SO:0001583	missense	5914			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.1140G>C	17.37:g.38511642G>C	ENSP00000254066:p.Lys380Asn	878	35765168	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746039	0.89663	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11	5.31	3.32	0.38043	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.101684	0.64402	D	0.000003	D	0.98160	0.9392	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.987;0.997;0.995	D	0.98192	1.0463	10	0.87932	D	0	.	10.8109	0.46547	0.1559:0.0:0.8441:0.0	.	283;375;380	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	N	380;283;380;396;375;373;267	ENSP00000254066:K380N;ENSP00000389993:K283N;ENSP00000377649:K380N;ENSP00000377648:K396N;ENSP00000377643:K375N	ENSP00000254066:K380N	K	+	3	2	RARA	35765168	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.510000	0.35790	0.808000	0.34231	0.561000	0.74099	AAG		0.647	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			C	38511642	G	C	38511642	3	2	129	1	0	0	0	0	1	0	0	0	13055	933	33	3	1333	3	RARA	17	38511642	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	30751007	38511642	42683568	91	7060											
NKIRAS2	28511	genome.wustl.edu	37	17	40174624	40174624	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr17:40174624A>T	ENST00000307641.5	+	3	923	c.302A>T	c.(301-303)aAg>aTg	p.K101M	ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000449471.4_Intron|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K99M|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K101M|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K101M|NKIRAS2_ENST00000479407.1_Nonsense_Mutation_p.R69*|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K101M|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K101M	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	101	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K101M(1)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GAGCTGCTCAAGAAGGAGATT	0.552																																																1	Substitution - Missense(1)	ovary(1)	17											91	83	86					17																	40174624		2203	4300	6503	37428150	SO:0001583	missense	28511			AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"NFKB inhibitor interacting Ras-like protein 2"			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.302A>T	17.37:g.40174624A>T	ENSP00000303580:p.Lys101Met		37428150	A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	CCDS11415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	35|35	5.541289|5.541289	0.96474|0.96474	.|.	.|.	ENSG00000168256|ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000316082|ENST00000449471	T;T;T;T;T;T|.	0.79653|.	-1.29;-1.29;-1.29;-1.29;-1.29;-0.22|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75917|.	0.3915|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|.	0.79451|.	-0.1798|.	9|.	0.87932|0.87932	D|D	0|0	-13.1669|-13.1669	15.5894|15.5894	0.76512|0.76512	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	101|.	Q9NYR9|.	KBRS2_HUMAN|.	M|X	101;99;101;101;101;101|69	ENSP00000303580:K101M;ENSP00000377462:K99M;ENSP00000377458:K101M;ENSP00000377459:K101M;ENSP00000377463:K101M;ENSP00000312773:K101M|.	ENSP00000303580:K101M|ENSP00000401976:R69X	K|R	+|+	2|1	0|2	NKIRAS2|NKIRAS2	37428150|37428150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	9.339000|9.339000	0.96797|0.96797	2.157000|2.157000	0.67596|0.67596	0.477000|0.477000	0.44152|0.44152	AAG|AGA		0.552	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		T	40174624	A	T	40174624	3	4	129	1	0	0	0	0	1	0	0	0	10445	73	3	5	308	5	NKIRAS2	17	40174624	Missense_Mutation	SNP	A	TCGA-13-1481-01A-01W-0549-09	1662982	40174624	41020586	92	7061											
MPO	4353	genome.wustl.edu	37	17	56351009	56351009	+	Silent	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr17:56351009G>A	ENST00000225275.3	-	9	1563	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	MPO_ENST00000340482.3_Silent_p.L495L|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	463					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L463L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	ACCAGGGGCAGGTAGTCCCGG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	17											183	148	160					17																	56351009		2203	4300	6503	53706008	SO:0001819	synonymous_variant	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1387C>T	17.37:g.56351009G>A			53706008	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	CCDS11604.1																																																																																				0.577	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			A	56351009	G	A	56351009	2	1	129	1	0	0	0	0	0	0	0	1	9732	991	35	2		2	MPO	17	56351009	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09	16176385	56351009	24844201	93	7062											
ERN1	2081	genome.wustl.edu	37	17	62175507	62175507	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr17:62175507C>G	ENST00000433197.3	-	2	244	c.149G>C	c.(148-150)gGc>gCc	p.G50A		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1									p.G50A(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TTTGATTGAGCCTGTCCTCTT	0.433																																																1	Substitution - Missense(1)	ovary(1)	17											124	121	122					17																	62175507		1986	4155	6141	59529239	SO:0001583	missense	2081			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.149G>C	17.37:g.62175507C>G	ENSP00000401445:p.Gly50Ala		59529239		Missense_Mutation	SNP	ENST00000433197.3	37	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917326	0.92249	.	.	ENSG00000178607	ENST00000433197	D	0.85258	-1.96	5.64	5.64	0.86602	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	D	0.92734	0.7690	M	0.83312	2.635	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93323	0.6694	10	0.72032	D	0.01	-28.1004	16.6188	0.84924	0.0:1.0:0.0:0.0	.	50	O75460	ERN1_HUMAN	A	50	ENSP00000401445:G50A	ENSP00000401445:G50A	G	-	2	0	ERN1	59529239	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.824000	0.75288	2.669000	0.90835	0.561000	0.74099	GGC		0.433	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		G	62175507	C	G	62175507	3	3	129	1	0	0	0	0	1	0	0	0	5237	739	26	3	2868	3	ERN1	17	62175507	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	5824498	62175507	19019703	94	7063											
COG1	9382	genome.wustl.edu	37	17	71196786	71196786	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr17:71196786C>G	ENST00000299886.4	+	6	1232	c.1152C>G	c.(1150-1152)gaC>gaG	p.D384E		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	384					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.D384E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GAATCCGGGACGCCATGTGGG	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											112	105	107					17																	71196786		2203	4300	6503	68708381	SO:0001583	missense	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1152C>G	17.37:g.71196786C>G	ENSP00000299886:p.Asp384Glu		68708381	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065357	0.20067	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.22539	1.95;1.95	5.53	-9.96	0.00443	.	0.096908	0.64402	D	0.000002	T	0.37919	0.1021	M	0.77616	2.38	0.42570	D	0.993178	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75020	0.985;0.927;0.985	T	0.76599	-0.2900	10	0.15952	T	0.53	-25.3942	20.6786	0.99705	0.0:0.1774:0.0:0.8226	.	384;384;384	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	E	384	ENSP00000400111:D384E;ENSP00000299886:D384E	ENSP00000299886:D384E	D	+	3	2	COG1	68708381	0.000000	0.05858	0.066000	0.19879	0.428000	0.31595	-2.180000	0.01258	-2.136000	0.00810	-0.251000	0.11542	GAC		0.498	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			G	71196786	C	G	71196786	3	3	129	1	0	0	0	0	1	0	0	0	3657	535	19	3	1174	3	COG1	17	71196786	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	9021279	71196786	9998424	95	7064											
RNF213	57674	genome.wustl.edu	37	17	78320139	78320139	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr17:78320139G>T	ENST00000582970.1	+	29	8147	c.8004G>T	c.(8002-8004)aaG>aaT	p.K2668N	RNF213_ENST00000508628.2_Missense_Mutation_p.K2717N|RNF213_ENST00000336301.6_Missense_Mutation_p.K741N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2668					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K741N(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTCTCTCCAAGTCCAGCGTCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	17											67	65	66					17																	78320139		2203	4300	6503	75934734	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8004G>T	17.37:g.78320139G>T	ENSP00000464087:p.Lys2668Asn		75934734	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	1.269	-0.613608	0.03690	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25250	1.81	5.37	2.3	0.28687	.	1.196700	0.05917	N	0.632790	T	0.21590	0.0520	L	0.29908	0.895	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.31998	-0.9923	10	0.42905	T	0.14	.	9.6642	0.39974	0.2942:0.0:0.7058:0.0	.	741	Q63HN8	RN213_HUMAN	N	2668;2717;741	ENSP00000338218:K741N	ENSP00000338218:K741N	K	+	3	2	RNF213	75934734	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.850000	0.27737	0.242000	0.21303	0.563000	0.77884	AAG		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78320139	G	T	78320139	3	4	129	1	0	0	0	0	1	0	0	0	13480	1020	36	3	8433	3	RNF213	17	78320139	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09	7123353	78320139	2875071	96	7065											
OSBPL1A	114876	genome.wustl.edu	37	18	21897130	21897130	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr18:21897130T>G	ENST00000319481.3	-	11	1059	c.853A>C	c.(853-855)Act>Cct	p.T285P		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	285	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.T285P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ACTGCTTGAGTCAGGTGTTTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	18											109	106	107					18																	21897130		2203	4300	6503	20151128	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.853A>C	18.37:g.21897130T>G	ENSP00000320291:p.Thr285Pro		20151128	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319917	0.81469	.	.	ENSG00000141447	ENST00000319481	T	0.45276	0.9	5.73	5.73	0.89815	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.048710	0.85682	D	0.000000	T	0.65729	0.2719	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.66156	-0.5994	10	0.39692	T	0.17	-23.2478	16.0013	0.80294	0.0:0.0:0.0:1.0	.	285;285	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	P	285	ENSP00000320291:T285P	ENSP00000320291:T285P	T	-	1	0	OSBPL1A	20151128	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.896000	0.75665	2.180000	0.69256	0.528000	0.53228	ACT		0.368	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		G	21897130	T	G	21897130	3	3	129	1	0	0	0	0	1	0	0	0	11277	1667	58	5	2071	5	OSBPL1A	18	21897130	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09		21897130	56180118	97	7066											
RIT2	6014	genome.wustl.edu	37	18	40554110	40554110	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr18:40554110C>T	ENST00000326695.5	-	3	334	c.163G>A	c.(163-165)Gat>Aat	p.D55N	RIT2_ENST00000282028.4_Missense_Mutation_p.D55N|RIT2_ENST00000589109.1_Missense_Mutation_p.D55N|RIT2_ENST00000590910.1_Missense_Mutation_p.D55N	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	55					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D55N(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTATAAGCATCTTCTGAAAAA	0.363																																																1	Substitution - Missense(1)	ovary(1)	18											70	60	64					18																	40554110		2203	4300	6503	38808108	SO:0001583	missense	6014			BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"Ric (Drosophila)-like, expressed in neurons"	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.163G>A	18.37:g.40554110C>T	ENSP00000321805:p.Asp55Asn		38808108	B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676071	0.88445	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	D;T	0.83335	-1.71;-1.31	5.44	5.44	0.79542	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000006	D	0.88771	0.6527	L	0.49778	1.585	0.43381	D	0.99548	D;D	0.89917	1.0;0.994	D;D	0.85130	0.997;0.993	D	0.89143	0.3518	10	0.66056	D	0.02	.	16.3346	0.83053	0.0:1.0:0.0:0.0	.	55;55	Q99578-2;Q99578	.;RIT2_HUMAN	N	55	ENSP00000321805:D55N;ENSP00000282028:D55N	ENSP00000282028:D55N	D	-	1	0	RIT2	38808108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.453000	0.60061	2.700000	0.92200	0.655000	0.94253	GAT		0.363	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		T	40554110	C	T	40554110	3	4	129	1	0	0	0	0	1	0	0	0	13390	913	32	2	502	2	RIT2	18	40554110	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	18656980	40554110	37523138	98	7067											
ANGPTL4	51129	genome.wustl.edu	37	19	8431185	8431185	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr19:8431185A>C	ENST00000301455.2	+	3	700	c.529A>C	c.(529-531)Aat>Cat	p.N177H	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.N10H|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.N177H	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	177					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)	p.N177H(1)		large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CCCGGCTCACAATGTCAGCCG	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											66	70	69					19																	8431185		2203	4300	6503	8337185	SO:0001583	missense	51129			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.529A>C	19.37:g.8431185A>C	ENSP00000301455:p.Asn177His		8337185	A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254507	0.22965	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.57107	0.56;0.42;0.59	4.19	4.19	0.49359	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	26.062600	0.00166	N	0.000000	T	0.60650	0.2285	L	0.32530	0.975	0.09310	N	1	D;D	0.67145	0.996;0.985	P;P	0.56700	0.804;0.753	T	0.50972	-0.8764	10	0.66056	D	0.02	.	9.8385	0.40985	1.0:0.0:0.0:0.0	.	177;177	A8MY84;Q9BY76	.;ANGL4_HUMAN	H	177;177;10	ENSP00000301455:N177H;ENSP00000377534:N177H;ENSP00000439833:N10H	ENSP00000301455:N177H	N	+	1	0	ANGPTL4	8337185	0.758000	0.28405	0.155000	0.22561	0.595000	0.36748	3.864000	0.56024	1.887000	0.54652	0.533000	0.62120	AAT		0.637	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		C	8431185	A	C	8431185	3	2	129	1	0	0	0	0	1	0	0	0	616	130	5	5	539	5	ANGPTL4	19	8431185	Missense_Mutation	SNP	A	TCGA-13-1481-01A-01W-0549-09		8431185	50697798	99	7068											
MUC16	94025	genome.wustl.edu	37	19	8993365	8993371	+	Splice_Site	DEL	CCGCTCA	CCGCTCA	-	rs7255615|rs552400788	byFrequency	TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	CCGCTCA	CCGCTCA	CCGCTCA	-	CCGCTCA	CCGCTCA	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr19:8993365_8993371delCCGCTCA	ENST00000397910.4	-	66	41920		c.e66+1		MUC16_ENST00000380951.5_Splice_Site	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACATCACAGCCGCTCACCATTGACAT	0.531																																																0			19																																								8854371	SO:0001630	splice_region_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41716+1TGAGCGG>-	19.37:g.8993365_8993371delCCGCTCA			8854365	Q6ZQW5|Q96RK2	Splice_Site	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																				0.531	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Intron	-	8993371	CCGCTCA	-	8993365	8	5	129	1	0	1	0	1	0	0	1	0	9973	754	26	0		0	MUC16	19	8993365	Splice_Site	DEL	CCGCTCA	TCGA-13-1481-01A-01W-0549-09	562180	8993365	50135618	100	7069											
DPY19L3	147991	genome.wustl.edu	37	19	32973053	32973053	+	Silent	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr19:32973053G>A	ENST00000342179.5	+	19	2273	c.2058G>A	c.(2056-2058)gaG>gaA	p.E686E	DPY19L3_ENST00000392250.2_Silent_p.E686E|DPY19L3_ENST00000586987.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	686						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E686E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TCTGTGAAGAGATCAAAAGAA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	19											167	168	168					19																	32973053		2203	4300	6503	37664893	SO:0001819	synonymous_variant	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.2058G>A	19.37:g.32973053G>A			37664893	Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	CCDS12422.1																																																																																				0.458	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		A	32973053	G	A	32973053	2	1	129	1	0	0	0	0	0	0	0	1	4742	933	33	2		2	DPY19L3	19	32973053	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09	23979688	32973053	26155930	101	7070											
CCDC114	93233	genome.wustl.edu	37	19	48801337	48801337	+	Silent	SNP	G	G	A	rs141720286		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr19:48801337G>A	ENST00000315396.7	-	12	1993	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	437					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.A230A(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGGCAGCGTCGGCCAGGGAGG	0.692																																																1	Substitution - coding silent(1)	ovary(1)	19											41	42	42					19																	48801337		2203	4300	6503	53493149	SO:0001819	synonymous_variant	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1311C>T	19.37:g.48801337G>A			53493149	Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	CCDS12714.2																																																																																				0.692	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		A	48801337	G	A	48801337	2	1	129	1	0	0	0	0	0	0	0	1	2751	1103	39	1		1	CCDC114	19	48801337	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09	15828284	48801337	10327646	102	7071											
C20orf46	55321	genome.wustl.edu	37	20	1162098	1162098	+	Silent	SNP	G	G	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr20:1162098G>T	ENST00000381894.3	-	2	836	c.165C>A	c.(163-165)acC>acA	p.T55T	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	55						integral component of membrane (GO:0016021)		p.T55T(1)									CACCCTCCCTGGTTGGGGCCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	20											35	35	35					20																	1162098		2203	4299	6502	1110098	SO:0001819	synonymous_variant	55321			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.165C>A	20.37:g.1162098G>T			1110098	D3DVW5	Silent	SNP	ENST00000381894.3	37	CCDS13011.1																																																																																				0.612	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		T	1162098	G	T	1162098	2	4	129	1	0	0	0	0	0	0	0	1	2113	1335	47	3		3	C20orf46	20	1162098	Silent	SNP	G	TCGA-13-1481-01A-01W-0549-09		1162098	61863422	103	7072											
RASSF2	9770	genome.wustl.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	T	rs369276882		TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr20:4770300C>T	ENST00000379400.3	-	8	776	c.581G>A	c.(580-582)cGc>cAc	p.R194H	RASSF2_ENST00000379376.2_Missense_Mutation_p.R194H|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547																																					Melanoma(158;1891 3343 50738)											3	Substitution - Missense(3)	lung(2)|ovary(1)	20						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	160	139	146		581,581	5	1	20		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RASSF2	NM_014737.2,NM_170774.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	194/327,194/327	4770300	1,13005	2203	4300	6503	4718300	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.581G>A	20.37:g.4770300C>T	ENSP00000368710:p.Arg194His		4718300	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096093	0.94197	0.0	1.16E-4	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.18016	2.24;2.24	5.04	5.04	0.67666	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01972	-1.1237	10	0.15952	T	0.53	.	17.1313	0.86727	0.0:1.0:0.0:0.0	.	194	P50749	RASF2_HUMAN	H	194	ENSP00000368710:R194H;ENSP00000368684:R194H	ENSP00000368684:R194H	R	-	2	0	RASSF2	4718300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.604000	0.82830	2.622000	0.88805	0.655000	0.94253	CGC		0.547	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		T	4770300	C	T	4770300	3	4	129	1	0	0	0	0	1	0	0	0	13089	768	27	1	419	1	RASSF2	20	4770300	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	3608202	4770300	58255220	104	7073											
SLC13A3	64849	genome.wustl.edu	37	20	45239128	45239128	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr20:45239128C>A	ENST00000279027.4	-	3	516	c.498G>T	c.(496-498)aaG>aaT	p.K166N	SLC13A3_ENST00000290317.5_Missense_Mutation_p.K119N|SLC13A3_ENST00000372121.1_Missense_Mutation_p.K166N|SLC13A3_ENST00000396360.1_Missense_Mutation_p.K119N|SLC13A3_ENST00000417157.2_Missense_Mutation_p.K119N|SLC13A3_ENST00000435032.1_De_novo_Start_InFrame|SLC13A3_ENST00000472148.1_Missense_Mutation_p.K119N|SLC13A3_ENST00000495082.1_Missense_Mutation_p.K119N|SLC13A3_ENST00000413164.2_Missense_Mutation_p.K166N|SLC13A3_ENST00000339636.3_Missense_Mutation_p.K166N	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	166					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.K166N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTCGAACCTCCTTCTGGCCAA	0.542																																																1	Substitution - Missense(1)	ovary(1)	20											239	224	229					20																	45239128		2203	4300	6503	44672535	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.498G>T	20.37:g.45239128C>A	ENSP00000279027:p.Lys166Asn		44672535	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773344	0.16051	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.07021	3.79;3.81;4.0;3.81;4.25;3.79;3.23;4.25;4.25;4.25;4.25	5.4	2.19	0.27852	.	0.810490	0.11763	N	0.531863	T	0.07548	0.0190	N	0.16478	0.41	0.31811	N	0.627107	P;P;P;P;B	0.42161	0.772;0.677;0.677;0.737;0.25	P;B;B;B;B	0.48738	0.588;0.377;0.355;0.422;0.388	T	0.25916	-1.0118	10	0.26408	T	0.33	-5.5217	5.7913	0.18361	0.0:0.4737:0.352:0.1742	.	166;119;119;119;166	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	N	119;119;166;119;166;119;119;129;166;119;166	ENSP00000290317:K119N;ENSP00000379648:K119N;ENSP00000279027:K166N;ENSP00000420177:K119N;ENSP00000415852:K166N;ENSP00000419621:K119N;ENSP00000417784:K119N;ENSP00000395095:K129N;ENSP00000361193:K166N;ENSP00000397955:K119N;ENSP00000344912:K166N	ENSP00000279027:K166N	K	-	3	2	SLC13A3	44672535	1.000000	0.71417	0.461000	0.27105	0.131000	0.20780	0.867000	0.27968	1.373000	0.46208	0.467000	0.42956	AAG		0.542	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			A	45239128	C	A	45239128	3	1	129	1	0	0	0	0	1	0	0	0	14396	680	24	3	1354	3	SLC13A3	20	45239128	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09	40468828	45239128	17786392	105	7074											
SAMSN1	64092	genome.wustl.edu	37	21	15873052	15873052	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr21:15873052C>T	ENST00000400566.1	-	6	647	c.566G>A	c.(565-567)gGa>gAa	p.G189E	SAMSN1_ENST00000285670.2_Missense_Mutation_p.G257E|SAMSN1_ENST00000463807.1_5'Flank|SAMSN1_ENST00000400564.1_Missense_Mutation_p.G21E	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	189	SH3.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.G189E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TATGATGTCTCCTTTCTAAGG	0.348																																																1	Substitution - Missense(1)	ovary(1)	21											157	138	144					21																	15873052		1848	4102	5950	14794923	SO:0001583	missense	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.566G>A	21.37:g.15873052C>T	ENSP00000383411:p.Gly189Glu		14794923	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992161	0.93167	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	T;T;T	0.58210	1.17;1.17;0.35	5.77	5.77	0.91146	Src homology-3 domain (2);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.84156	0.5410	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89575	0.3816	10	0.87932	D	0	-20.0316	19.9883	0.97356	0.0:1.0:0.0:0.0	.	21;257;189	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	E	257;189;21	ENSP00000285670:G257E;ENSP00000383411:G189E;ENSP00000383409:G21E	ENSP00000285670:G257E	G	-	2	0	SAMSN1	14794923	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.717000	0.92951	0.650000	0.86243	GGA		0.348	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			T	15873052	C	T	15873052	3	4	129	1	0	0	0	0	1	0	0	0	13833	855	30	2	567	2	SAMSN1	21	15873052	Missense_Mutation	SNP	C	TCGA-13-1481-01A-01W-0549-09		15873052	32256843	106	7075											
PKDREJ	10343	genome.wustl.edu	37	22	46655066	46655066	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chr22:46655066T>C	ENST00000253255.5	-	1	4153	c.4154A>G	c.(4153-4155)aAt>aGt	p.N1385S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1385					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.N1385S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGGAGCCTATTGAATGTTTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	22											75	77	77					22																	46655066		2203	4300	6503	45033730	SO:0001583	missense	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4154A>G	22.37:g.46655066T>C	ENSP00000253255:p.Asn1385Ser		45033730	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	0.222	-1.027587	0.02045	.	.	ENSG00000130943	ENST00000253255	T	0.33216	1.42	5.09	-3.96	0.04106	.	0.309092	0.28803	N	0.014095	T	0.11067	0.0270	N	0.05280	-0.08	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22521	-1.0214	10	0.20519	T	0.43	-19.4058	9.4924	0.38967	0.0:0.3897:0.4144:0.1959	.	1385	Q9NTG1	PKDRE_HUMAN	S	1385	ENSP00000253255:N1385S	ENSP00000253255:N1385S	N	-	2	0	PKDREJ	45033730	0.000000	0.05858	0.014000	0.15608	0.150000	0.21749	-2.476000	0.00986	-0.917000	0.03813	-2.038000	0.00419	AAT		0.343	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		C	46655066	T	C	46655066	3	2	129	1	0	0	0	0	1	0	0	0	11970	1493	52	4	2611	4	PKDREJ	22	46655066	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09		46655066	4649500	107	7076											
PHKA1	5255	genome.wustl.edu	37	X	71831000	71831000	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chrX:71831000G>A	ENST00000373542.4	-	22	2563	c.2404C>T	c.(2404-2406)Cgg>Tgg	p.R802W	PHKA1_ENST00000541944.1_Missense_Mutation_p.R743W|PHKA1_ENST00000373539.3_Missense_Mutation_p.R802W|PHKA1_ENST00000373545.3_Missense_Mutation_p.R743W|PHKA1_ENST00000339490.3_Missense_Mutation_p.R802W	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	802					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R802W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTAGCACTCCGTTCATTATAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											80	70	74					X																	71831000		2203	4300	6503	71747725	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2404C>T	X.37:g.71831000G>A	ENSP00000362643:p.Arg802Trp		71747725	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697080	0.88830	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91180	-2.8;-2.79;-2.8;-2.79;-2.8	5.85	2.87	0.33458	Glycoside hydrolase 15-related (1);	0.923503	0.09445	N	0.801259	D	0.88651	0.6494	L	0.49126	1.545	0.09310	N	1	P;B;P	0.51057	0.941;0.282;0.507	B;B;P	0.46144	0.269;0.291;0.505	T	0.76602	-0.2899	10	0.59425	D	0.04	-3.2086	6.6993	0.23217	0.0:0.4301:0.3998:0.1701	.	743;802;802	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	W	743;802;743;802;802	ENSP00000362646:R743W;ENSP00000362643:R802W;ENSP00000441251:R743W;ENSP00000342469:R802W;ENSP00000362640:R802W	ENSP00000342469:R802W	R	-	1	2	PHKA1	71747725	0.000000	0.05858	0.072000	0.20136	0.917000	0.54804	0.518000	0.22847	-0.067000	0.12976	-0.170000	0.13304	CGG		0.423	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			A	71831000	G	A	71831000	3	1	129	1	0	0	0	0	1	0	0	0	11843	1144	40	1	1311	1	PHKA1	23	71831000	Missense_Mutation	SNP	G	TCGA-13-1481-01A-01W-0549-09		71831000	83439560	108	7077											
DIAPH2	1730	genome.wustl.edu	37	X	96396767	96396767	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chrX:96396767T>C	ENST00000324765.8	+	22	3040	c.2693T>C	c.(2692-2694)cTg>cCg	p.L898P	DIAPH2_ENST00000373054.4_Missense_Mutation_p.L894P|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L898P|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L898P|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L898P			O60879	DIAP2_HUMAN	diaphanous-related formin 2	898	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.L898P(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CCTGAAGAACTGGAACACGTA	0.323																																																1	Substitution - Missense(1)	ovary(1)	X											69	64	66					X																	96396767		2203	4300	6503	96283423	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2693T>C	X.37:g.96396767T>C	ENSP00000321348:p.Leu898Pro		96283423	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069614	0.76301	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.46	5.46	0.80206	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.56097	D	0.000038	T	0.81564	0.4849	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85166	0.0995	10	0.87932	D	0	.	14.5822	0.68300	0.0:0.0:0.0:1.0	.	898;898	O60879;O60879-2	DIAP2_HUMAN;.	P	898;894;898;898;898;905	ENSP00000362152:L898P;ENSP00000362145:L894P;ENSP00000348082:L898P;ENSP00000362140:L898P;ENSP00000321348:L898P	ENSP00000321348:L898P	L	+	2	0	DIAPH2	96283423	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.357000	0.79456	1.824000	0.53156	0.486000	0.48141	CTG		0.323	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		C	96396767	T	C	96396767	3	2	129	1	0	0	0	0	1	0	0	0	4519	1580	55	4	2779	4	DIAPH2	23	96396767	Missense_Mutation	SNP	T	TCGA-13-1481-01A-01W-0549-09	24565767	96396767	58873793	109	7078											
GABRE	2564	genome.wustl.edu	37	X	151138159	151138159	+	Silent	SNP	A	A	T			TCGA-13-1481-01A-01W-0549-09	TCGA-13-1481-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f9eab025-5518-4240-b1a8-19f8ff8354f0	01361f79-f17b-431a-a658-e8f4d1df7636	g.chrX:151138159A>T	ENST00000370328.3	-	3	377	c.324T>A	c.(322-324)ccT>ccA	p.P108P	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Silent_p.P108P	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	108					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P108P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGATAGAGAGAGGACCAAGGC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	X											99	83	88					X																	151138159		2203	4300	6503	150888815	SO:0001819	synonymous_variant	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.324T>A	X.37:g.151138159A>T			150888815	E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	CCDS14703.1																																																																																				0.502	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		T	151138159	A	T	151138159	2	4	129	1	0	0	0	0	0	0	0	1	6170	291	11	5		5	GABRE	23	151138159	Silent	SNP	A	TCGA-13-1481-01A-01W-0549-09	54741392	151138159	4132401	110	7079											
AK2	204	genome.wustl.edu	37	1	33478791	33478791	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr1:33478791C>G	ENST00000354858.6	-	6	874	c.711G>C	c.(709-711)atG>atC	p.M237I	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Intron|AK2_ENST00000373449.2_Intron|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000491241.1_Intron|AK2_ENST00000467905.1_Intron	NM_001625.3	NP_001616.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATTAGATAAACATAACCAAGT	0.507																																																0			1											128	121	123					1																	33478791		2203	4300	6503	33251378	SO:0001583	missense	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000354858.6:c.711G>C	1.37:g.33478791C>G	ENSP00000346921:p.Met237Ile		33251378		Missense_Mutation	SNP	ENST00000354858.6	37	CCDS374.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545079	0.27652	.	.	ENSG00000004455	ENST00000354858	T	0.75477	-0.94	5.51	4.58	0.56647	.	0.301150	0.39985	N	0.001206	T	0.57873	0.2083	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52571	-0.8558	10	0.09843	T	0.71	-20.8194	15.3658	0.74519	0.0:0.9293:0.0:0.0707	.	237	P54819	KAD2_HUMAN	I	237	ENSP00000346921:M237I	ENSP00000346921:M237I	M	-	3	0	AK2	33251378	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.472000	0.45136	2.758000	0.94735	0.563000	0.77884	ATG		0.507	AK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000011883.1	NM_001625		G	33478791	C	G	33478791	3	3	130	1	0	0	0	0	1	0	0	0	440	478	17	3	21	3	AK2	1	33478791	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09		33478791	215771830	1	7080											
CLCA2	9635	genome.wustl.edu	37	1	86900279	86900279	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr1:86900279G>T	ENST00000370565.4	+	6	985	c.823G>T	c.(823-825)Gca>Tca	p.A275S		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	275					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.A275S(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTCAGAAGTGCATGGGATGT	0.468																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											1	Substitution - Missense(1)	ovary(1)	1											182	159	167					1																	86900279		2203	4300	6503	86672867	SO:0001583	missense	9635				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.823G>T	1.37:g.86900279G>T	ENSP00000359596:p.Ala275Ser		86672867	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809768	0.70797	.	.	ENSG00000137975	ENST00000370565	T	0.03413	3.94	6.17	-8.62	0.00881	.	0.235345	0.40908	D	0.000993	T	0.01421	0.0046	L	0.59436	1.845	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.33137	-0.9880	10	0.56958	D	0.05	0.311	14.9811	0.71311	0.78:0.0:0.1353:0.0847	.	275	Q9UQC9	CLCA2_HUMAN	S	275	ENSP00000359596:A275S	ENSP00000359596:A275S	A	+	1	0	CLCA2	86672867	0.442000	0.25633	0.000000	0.03702	0.753000	0.42808	0.807000	0.27140	-1.646000	0.01513	-0.136000	0.14681	GCA		0.468	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		T	86900279	G	T	86900279	3	4	130	1	0	0	0	0	1	0	0	0	3458	1319	46	3	845	3	CLCA2	1	86900279	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09	53421488	86900279	162350342	2	7081											
SLC22A15	55356	genome.wustl.edu	37	1	116562264	116562264	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr1:116562264G>C	ENST00000369503.4	+	3	492	c.362G>C	c.(361-363)gGt>gCt	p.G121A	RP11-159M11.2_ENST00000453128.1_RNA|SLC22A15_ENST00000369502.1_Missense_Mutation_p.G121A	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	121					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.G121A(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCTTCAGTGGTGTATTTGTT	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											189	157	167					1																	116562264		1831	4089	5920	116363787	SO:0001583	missense	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.362G>C	1.37:g.116562264G>C	ENSP00000358515:p.Gly121Ala		116363787	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399695	0.83120	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.81247	-1.47;0.29	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100470	0.64402	D	0.000002	D	0.90563	0.7042	M	0.90483	3.12	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.92050	0.5647	10	0.87932	D	0	.	16.8965	0.86102	0.0:0.0:1.0:0.0	.	121;121	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	A	121	ENSP00000358515:G121A;ENSP00000358514:G121A	ENSP00000358514:G121A	G	+	2	0	SLC22A15	116363787	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.373000	0.79623	2.640000	0.89533	0.655000	0.94253	GGT		0.373	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		C	116562264	G	C	116562264	3	2	130	1	0	0	0	0	1	0	0	0	14449	1261	44	3	372	3	SLC22A15	1	116562264	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09	29661985	116562264	132688357	3	7082											
GDAP2	54834	genome.wustl.edu	37	1	118420630	118420630	+	Splice_Site	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr1:118420630C>T	ENST00000369443.5	-	13	1696		c.e13+1		GDAP2_ENST00000369442.3_Missense_Mutation_p.V483I	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2						response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)		p.?(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTACTTCTTACCCTGGCATCA	0.433																																																1	Unknown(1)	ovary(1)	1											123	114	117					1																	118420630		2203	4300	6503	118222153	SO:0001630	splice_region_variant	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1446+1G>A	1.37:g.118420630C>T			118222153	Q96DZ0	Splice_Site	SNP	ENST00000369443.5	37	CCDS897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.417846|4.417846	0.83449|0.83449	.|.	.|.	ENSG00000196505|ENSG00000196505	ENST00000369443|ENST00000369442	.|T	.|0.37058	.|1.22	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|.	.|.	.|.	.|.	.|T	.|0.16938	.|0.0407	.|.	.|.	.|.	0.34437|0.34437	D|D	0.699232|0.699232	.|B	.|0.33238	.|0.403	.|B	.|0.39738	.|0.308	.|T	.|0.05289	.|-1.0894	.|8	.|0.12103	.|T	.|0.63	.|.	16.6339|16.6339	0.85041|0.85041	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|483	.|Q9NXN4-2	.|.	.|I	-1|483	.|ENSP00000358450:V483I	.|ENSP00000358450:V483I	.|V	-|-	.|1	.|0	GDAP2|GDAP2	118222153|118222153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.965000|6.965000	0.76067|0.76067	2.668000|2.668000	0.90789|0.90789	0.655000|0.655000	0.94253|0.94253	.|GTA		0.433	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	Intron	T	118420630	C	T	118420630	5	4	130	1	0	0	0	0	0	0	1	0	6309	521	18	2	99	2	GDAP2	1	118420630	Splice_Site	SNP	C	TCGA-13-1482-01A-01W-0549-09	1858366	118420630	130829991	4	7083											
HORMAD1	84072	genome.wustl.edu	37	1	150680808	150680808	+	Silent	SNP	A	A	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr1:150680808A>T	ENST00000361824.2	-	9	576	c.471T>A	c.(469-471)atT>atA	p.I157I	HORMAD1_ENST00000322343.7_Silent_p.I150I|HORMAD1_ENST00000368993.2_Silent_p.I157I|HORMAD1_ENST00000368995.4_Silent_p.I77I	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	157	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.I157I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTAGGATATAAATCTTGCGAA	0.343																																																1	Substitution - coding silent(1)	ovary(1)	1											121	117	119					1																	150680808		2203	4300	6503	148947432	SO:0001819	synonymous_variant	84072			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.471T>A	1.37:g.150680808A>T			148947432	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Silent	SNP	ENST00000361824.2	37	CCDS967.1																																																																																				0.343	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		T	150680808	A	T	150680808	2	4	130	1	0	0	0	0	0	0	0	1	7286	10	1	5		5	HORMAD1	1	150680808	Silent	SNP	A	TCGA-13-1482-01A-01W-0549-09	32260178	150680808	98569813	5	7084											
FLG	2312	genome.wustl.edu	37	1	152279337	152279337	+	Silent	SNP	A	A	G			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr1:152279337A>G	ENST00000368799.1	-	3	8060	c.8025T>C	c.(8023-8025)gcT>gcC	p.A2675A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2675	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A2675A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAGATGAAGCTTGTCCGT	0.537									Ichthyosis																																							1	Substitution - coding silent(1)	ovary(1)	1											4	5	5					1																	152279337		968	2230	3198	150545961	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8025T>C	1.37:g.152279337A>G			150545961	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.537	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152279337	A	G	152279337	2	3	130	1	0	0	0	0	0	0	0	1	5922	59	3	4		4	FLG	1	152279337	Silent	SNP	A	TCGA-13-1482-01A-01W-0549-09	1598529	152279337	96971284	6	7085											
KPRP	448834	genome.wustl.edu	37	1	152733725	152733725	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr1:152733725G>A	ENST00000606109.1	+	1	1689	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	KPRP_ENST00000368773.1_Missense_Mutation_p.R554Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	554						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R554Q(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCCAGAGCGGAGGGGTCAG	0.542																																																2	Substitution - Missense(2)	ovary(2)	1											77	71	73					1																	152733725		2203	4300	6503	151000349	SO:0001583	missense	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1661G>A	1.37:g.152733725G>A	ENSP00000475216:p.Arg554Gln		151000349		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073284	0.20147	.	.	ENSG00000203786	ENST00000368773	T	0.11604	2.76	3.93	3.0	0.34707	.	0.412789	0.17984	N	0.155435	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.31274	0.317	B	0.23574	0.047	T	0.45991	-0.9223	10	0.30078	T	0.28	-0.1704	9.6976	0.40167	0.0:0.7826:0.2174:0.0	.	554	Q5T749	KPRP_HUMAN	Q	554	ENSP00000357762:R554Q	ENSP00000357762:R554Q	R	+	2	0	KPRP	151000349	0.002000	0.14202	0.078000	0.20375	0.043000	0.13939	0.661000	0.25023	1.013000	0.39391	-0.802000	0.03209	CGG		0.542	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152733725	G	A	152733725	3	1	130	1	0	0	0	0	1	0	0	0	8436	1116	39	1	1663	1	KPRP	1	152733725	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09	454388	152733725	96516896	7	7086											
NLRP3	114548	genome.wustl.edu	37	1	247599443	247599443	+	Splice_Site	SNP	G	G	C			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr1:247599443G>C	ENST00000336119.3	+	6	3415		c.e6+1		NLRP3_ENST00000391828.3_Splice_Site|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391827.2_Splice_Site|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.?(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAAACTGGGGTAAGTCTTCA	0.448																																																1	Unknown(1)	ovary(1)	1											71	68	69					1																	247599443		2203	4300	6503	245666066	SO:0001630	splice_region_variant	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2669+1G>C	1.37:g.247599443G>C			245666066	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Splice_Site	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	8.567	0.879210	0.17395	.	.	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1784	0.48614	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP3	245666066	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.530000	0.67141	2.347000	0.79759	0.536000	0.68110	.		0.448	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	Intron	C	247599443	G	C	247599443	5	2	130	1	0	0	0	0	0	0	1	0	10478	1275	44	3	2692	3	NLRP3	1	247599443	Splice_Site	SNP	G	TCGA-13-1482-01A-01W-0549-09	94865718	247599443	1651178	8	7087											
KIDINS220	57498	genome.wustl.edu	37	2	8926117	8926117	+	Silent	SNP	G	G	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr2:8926117G>T	ENST00000256707.3	-	17	2164	c.1983C>A	c.(1981-1983)gtC>gtA	p.V661V	KIDINS220_ENST00000418530.1_Silent_p.V619V|KIDINS220_ENST00000473731.1_Silent_p.V661V|KIDINS220_ENST00000427284.1_Silent_p.V661V|KIDINS220_ENST00000319688.5_Silent_p.V662V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	661	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.V661V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAAGGAAGATGACAAAAGATG	0.323																																																1	Substitution - coding silent(1)	ovary(1)	2											108	105	106					2																	8926117		1849	4095	5944	8843568	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1983C>A	2.37:g.8926117G>T			8843568	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.323	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		T	8926117	G	T	8926117	2	4	130	1	0	0	0	0	0	0	0	1	8271	1277	45	3		3	KIDINS220	2	8926117	Silent	SNP	G	TCGA-13-1482-01A-01W-0549-09		8926117	234273256	9	7088											
HADHB	3032	genome.wustl.edu	37	2	26496570	26496570	+	Silent	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr2:26496570C>T	ENST00000317799.5	+	6	410	c.306C>T	c.(304-306)atC>atT	p.I102I	HADHB_ENST00000545822.1_Silent_p.I80I|HADHB_ENST00000405867.3_Silent_p.I102I|HADHB_ENST00000537713.1_Silent_p.I87I|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	102					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.I102I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTATATCATCTTTGGTACAG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	2											117	110	112					2																	26496570		2203	4300	6503	26350074	SO:0001819	synonymous_variant	3032				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.306C>T	2.37:g.26496570C>T			26350074	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Silent	SNP	ENST00000317799.5	37	CCDS1722.1																																																																																				0.383	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		T	26496570	C	T	26496570	2	4	130	1	0	0	0	0	0	0	0	1	6944	903	32	2		2	HADHB	2	26496570	Silent	SNP	C	TCGA-13-1482-01A-01W-0549-09	17570453	26496570	216702803	10	7089											
CNTNAP5	129684	genome.wustl.edu	37	2	125671733	125671733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr2:125671733C>A	ENST00000431078.1	+	24	4153	c.3789C>A	c.(3787-3789)taC>taA	p.Y1263*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1263					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Y1263*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTTCCTCTACCAGCACAAGC	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	2											171	162	165					2																	125671733		1973	4175	6148	125388203	SO:0001587	stop_gained	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3789C>A	2.37:g.125671733C>A	ENSP00000399013:p.Tyr1263*		125388203	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Nonsense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	44	10.643582	0.99443	.	.	ENSG00000155052	ENST00000431078	.	.	.	6.14	2.33	0.28932	.	0.000000	0.45361	D	0.000362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3145	0.37926	0.0:0.6174:0.0:0.3826	.	.	.	.	X	1263	.	ENSP00000399013:Y1263X	Y	+	3	2	CNTNAP5	125388203	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	0.734000	0.26101	0.153000	0.19213	0.637000	0.83480	TAC		0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125671733	C	A	125671733	4	1	130	1	0	0	0	0	0	1	0	0	3650	518	18	3	3883	3	CNTNAP5	2	125671733	Nonsense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	99175163	125671733	117527640	11	7090											
CASP10	843	genome.wustl.edu	37	2	202070639	202070639	+	Silent	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr2:202070639C>T	ENST00000272879.5	+	7	940	c.756C>T	c.(754-756)gtC>gtT	p.V252V	CASP10_ENST00000286186.6_Silent_p.V252V|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000346817.5_Intron	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	252					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.V252V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CAAGCCTGGTCTCCAGGGGGA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	2											77	78	77					2																	202070639		2203	4300	6503	201778884	SO:0001819	synonymous_variant	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.756C>T	2.37:g.202070639C>T			201778884	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Silent	SNP	ENST00000272879.5	37	CCDS2338.1																																																																																				0.403	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		T	202070639	C	T	202070639	2	4	130	1	0	0	0	0	0	0	0	1	2669	900	32	2		2	CASP10	2	202070639	Silent	SNP	C	TCGA-13-1482-01A-01W-0549-09	76398906	202070639	41128734	12	7091											
RAPH1	65059	genome.wustl.edu	37	2	204320264	204320264	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr2:204320264C>T	ENST00000319170.5	-	9	1497	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	RAPH1_ENST00000423104.1_Missense_Mutation_p.E427K|RAPH1_ENST00000374488.2_Missense_Mutation_p.E425K|RAPH1_ENST00000457812.1_Missense_Mutation_p.E400K|RAPH1_ENST00000374489.2_Missense_Mutation_p.E427K|RAPH1_ENST00000308091.4_Missense_Mutation_p.E452K|RAPH1_ENST00000453034.1_Missense_Mutation_p.E452K|RAPH1_ENST00000439222.1_Missense_Mutation_p.E425K|RAPH1_ENST00000419464.1_Missense_Mutation_p.E400K|RAPH1_ENST00000374493.3_Missense_Mutation_p.E452K|RAPH1_ENST00000418114.1_Missense_Mutation_p.E400K	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	400	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.E400K(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGACTCCTTCAATTTCTGGT	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											106	107	106					2																	204320264		2203	4300	6503	204028509	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1198G>A	2.37:g.204320264C>T	ENSP00000316543:p.Glu400Lys		204028509	Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598136	0.96614	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.45	5.45	0.79879	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.51477	D	0.000086	T	0.49218	0.1544	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.995;0.996	T	0.48317	-0.9046	10	0.87932	D	0	-26.3273	19.6582	0.95853	0.0:1.0:0.0:0.0	.	452;452;400	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	K	400;400;452;427;425;452;425;400;427;452;425;400;427	ENSP00000392854:E400K;ENSP00000316543:E400K;ENSP00000363617:E452K;ENSP00000363613:E427K;ENSP00000363612:E425K;ENSP00000311293:E452K;ENSP00000411138:E425K;ENSP00000390578:E400K;ENSP00000397751:E427K;ENSP00000406662:E452K;ENSP00000396711:E400K	ENSP00000311293:E452K	E	-	1	0	RAPH1	204028509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.714000	0.92807	0.655000	0.94253	GAA		0.378	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		T	204320264	C	T	204320264	3	4	130	1	0	0	0	0	1	0	0	0	13053	835	29	2	2585	2	RAPH1	2	204320264	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	2249625	204320264	38879109	13	7092											
CSRNP1	64651	genome.wustl.edu	37	3	39185736	39185736	+	Silent	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr3:39185736C>T	ENST00000273153.5	-	4	849	c.672G>A	c.(670-672)aaG>aaA	p.K224K	CSRNP1_ENST00000514182.1_Silent_p.K224K	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	224					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	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.K224K(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GCAGCTCCCGCTTCTCCTCCC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	3											77	72	74					3																	39185736		2203	4300	6503	39160740	SO:0001819	synonymous_variant	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.672G>A	3.37:g.39185736C>T			39160740	Q69YY5	Silent	SNP	ENST00000273153.5	37	CCDS2682.1																																																																																				0.632	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		T	39185736	C	T	39185736	2	4	130	1	0	0	0	0	0	0	0	1	3963	796	28	2		2	CSRNP1	3	39185736	Silent	SNP	C	TCGA-13-1482-01A-01W-0549-09		39185736	158836694	14	7093											
RTP3	83597	genome.wustl.edu	37	3	46539651	46539651	+	Silent	SNP	T	T	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr3:46539651T>A	ENST00000296142.3	+	1	671	c.99T>A	c.(97-99)ctT>ctA	p.L33L		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	33					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L33L(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ACAAGGGCCTTCTTCCCAACG	0.542																																																1	Substitution - coding silent(1)	ovary(1)	3											123	109	113					3																	46539651		2203	4300	6503	46514655	SO:0001819	synonymous_variant	83597			AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"Receptor transporter proteins"	15572	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 3"	607181	"transmembrane protein 7", "receptor transporter protein 3"	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.99T>A	3.37:g.46539651T>A			46514655	A2RRP6	Silent	SNP	ENST00000296142.3	37	CCDS2740.1																																																																																				0.542	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		A	46539651	T	A	46539651	2	1	130	1	0	0	0	0	0	0	0	1	13738	1770	62	5		5	RTP3	3	46539651	Silent	SNP	T	TCGA-13-1482-01A-01W-0549-09	7353915	46539651	151482779	15	7094											
NFKBIZ	64332	genome.wustl.edu	37	3	101574576	101574576	+	Splice_Site	SNP	G	G	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr3:101574576G>T	ENST00000326172.5	+	9	1769		c.e9-1		NFKBIZ_ENST00000394054.2_Splice_Site|NFKBIZ_ENST00000326151.5_Splice_Site	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta						inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TTTTCTTCTAGGCCTGACTCC	0.448																																																1	Unknown(1)	ovary(1)	3											119	109	112					3																	101574576		2203	4300	6503	103057266	SO:0001630	splice_region_variant	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1655-1G>T	3.37:g.101574576G>T			103057266	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Splice_Site	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572497	0.65765	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFKBIZ	103057266	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	8.640000	0.91028	2.880000	0.98712	0.650000	0.86243	.		0.448	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419	Intron	T	101574576	G	T	101574576	5	4	130	1	0	0	0	0	0	0	1	0	10383	1014	35	3	1688	3	NFKBIZ	3	101574576	Splice_Site	SNP	G	TCGA-13-1482-01A-01W-0549-09	55034925	101574576	96447854	16	7095											
WDR5B	54554	genome.wustl.edu	37	3	122133656	122133656	+	Missense_Mutation	SNP	G	G	T	rs546211200		TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr3:122133656G>T	ENST00000330689.4	-	1	1226	c.720C>A	c.(718-720)agC>agA	p.S240R	RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	240								p.S240R(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		ACCTGCCTCTGCTATAATCCC	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											101	107	105					3																	122133656		2203	4300	6503	123616346	SO:0001583	missense	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.720C>A	3.37:g.122133656G>T	ENSP00000330381:p.Ser240Arg		123616346	B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414935	0.25465	.	.	ENSG00000196981	ENST00000330689	T	0.80214	-1.35	4.77	2.95	0.34219	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.149018	0.85682	D	0.000000	T	0.58566	0.2131	N	0.04297	-0.235	0.58432	D	0.999996	B	0.18741	0.03	B	0.12837	0.008	T	0.49597	-0.8923	10	0.31617	T	0.26	.	9.8468	0.41032	0.1572:0.0:0.8428:0.0	.	240	Q86VZ2	WDR5B_HUMAN	R	240	ENSP00000330381:S240R	ENSP00000330381:S240R	S	-	3	2	WDR5B	123616346	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	3.927000	0.56499	0.709000	0.31976	0.561000	0.74099	AGC		0.373	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		T	122133656	G	T	122133656	3	4	130	1	0	0	0	0	1	0	0	0	17309	1310	46	3	276	3	WDR5B	3	122133656	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09	20559080	122133656	75888774	17	7096											
MRPS22	56945	genome.wustl.edu	37	3	139065782	139065782	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr3:139065782C>G	ENST00000495075.1	+	4	667	c.235C>G	c.(235-237)Ctc>Gtc	p.L79V	MRPS22_ENST00000478464.1_Missense_Mutation_p.L38V|RP11-219D15.3_ENST00000608472.1_RNA|MRPS22_ENST00000310776.4_Missense_Mutation_p.L79V|MRPS22_ENST00000465056.1_Missense_Mutation_p.L78V			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	79						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.L79V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TCAAAGCATACTCACGAAAAT	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											107	103	104					3																	139065782		2203	4300	6503	140548472	SO:0001583	missense	56945			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.235C>G	3.37:g.139065782C>G	ENSP00000418008:p.Leu79Val		140548472	Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215147	0.79352	.	.	ENSG00000175110	ENST00000495075;ENST00000495225;ENST00000310776;ENST00000465056;ENST00000465373;ENST00000478464	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.42	5.42	0.78866	.	0.058835	0.64402	D	0.000002	D	0.94840	0.8333	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.95287	0.8391	10	0.87932	D	0	-3.8618	12.5483	0.56212	0.0:0.9233:0.0:0.0767	.	38;78;79	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	V	79;49;79;78;84;38	ENSP00000418008:L79V;ENSP00000310785:L79V;ENSP00000418233:L78V;ENSP00000419920:L84V;ENSP00000419303:L38V	ENSP00000310785:L79V	L	+	1	0	MRPS22	140548472	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.298000	0.51818	2.537000	0.85549	0.591000	0.81541	CTC		0.398	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		G	139065782	C	G	139065782	3	3	130	1	0	0	0	0	1	0	0	0	9833	565	20	3	241	3	MRPS22	3	139065782	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	16932126	139065782	58956648	18	7097											
ABCF3	55324	genome.wustl.edu	37	3	183905928	183905928	+	Splice_Site	SNP	G	G	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr3:183905928G>T	ENST00000429586.2	+	7	754		c.e7-1		EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Splice_Site	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3						defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTCCTGCAGAGTACTGCTG	0.527																																																1	Unknown(1)	ovary(1)	3											55	62	60					3																	183905928		2203	4300	6503	185388622	SO:0001630	splice_region_variant	55324			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.570-1G>T	3.37:g.183905928G>T			185388622	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Splice_Site	SNP	ENST00000429586.2	37	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270575	0.59540	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1033	0.86655	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCF3	185388622	1.000000	0.71417	0.999000	0.59377	0.773000	0.43773	9.593000	0.98250	2.262000	0.75019	0.561000	0.74099	.		0.527	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	Intron	T	183905928	G	T	183905928	5	4	130	1	0	0	0	0	0	0	1	0	67	956	33	3	595	3	ABCF3	3	183905928	Splice_Site	SNP	G	TCGA-13-1482-01A-01W-0549-09	44840146	183905928	14116502	19	7098											
BBS12	166379	genome.wustl.edu	37	4	123663417	123663417	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr4:123663417A>T	ENST00000314218.3	+	2	563	c.370A>T	c.(370-372)Agt>Tgt	p.S124C	BBS12_ENST00000542236.1_Missense_Mutation_p.S124C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	124					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.S124C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAACTTTTGTAGTGAAGAGGT	0.363									Bardet-Biedl syndrome																																							1	Substitution - Missense(1)	ovary(1)	4											127	122	123					4																	123663417		2203	4300	6503	123882867	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.370A>T	4.37:g.123663417A>T	ENSP00000319062:p.Ser124Cys		123882867	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	A	6.120	0.390369	0.11581	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.78595	-1.19;-1.19;-1.19	5.2	3.99	0.46301	.	0.569212	0.18563	N	0.137551	T	0.56992	0.2023	N	0.08118	0	0.22639	N	0.998901	B	0.10296	0.003	B	0.10450	0.005	T	0.40701	-0.9549	10	0.20519	T	0.43	-9.9939	10.4736	0.44652	0.728:0.0:0.0:0.272	.	124	Q6ZW61	BBS12_HUMAN	C	124	ENSP00000319062:S124C;ENSP00000438273:S124C;ENSP00000398912:S124C	ENSP00000319062:S124C	S	+	1	0	BBS12	123882867	1.000000	0.71417	0.923000	0.36655	0.295000	0.27426	2.390000	0.44416	0.888000	0.36160	0.528000	0.53228	AGT		0.363	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		T	123663417	A	T	123663417	3	4	130	1	0	0	0	0	1	0	0	0	1337	420	15	5	372	5	BBS12	4	123663417	Missense_Mutation	SNP	A	TCGA-13-1482-01A-01W-0549-09		123663417	67490859	20	7099											
BAI3	577	genome.wustl.edu	37	6	70040396	70040396	+	Splice_Site	SNP	A	A	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr6:70040396A>T	ENST00000370598.1	+	23	3856		c.e23-1		BAI3_ENST00000238918.8_Splice_Site|BAI3_ENST00000546190.1_5'Flank	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGTCATTTTCAGCTGCTGGCT	0.373																																																1	Unknown(1)	ovary(1)	6											108	97	100					6																	70040396		2203	4300	6503	70097117	SO:0001630	splice_region_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3036-1A>T	6.37:g.70040396A>T			70097117	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.030658	0.93575	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAI3	70097117	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	.		0.373	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Intron	T	70040396	A	T	70040396	5	4	130	1	0	0	0	0	0	0	1	0	1300	202	7	5	3116	5	BAI3	6	70040396	Splice_Site	SNP	A	TCGA-13-1482-01A-01W-0549-09		70040396	101074671	21	7100											
MAP3K7	6885	genome.wustl.edu	37	6	91257852	91257852	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr6:91257852C>T	ENST00000369329.3	-	10	1155	c.994G>A	c.(994-996)Gac>Aac	p.D332N	MAP3K7_ENST00000369332.3_Missense_Mutation_p.D332N|MAP3K7_ENST00000369320.1_Missense_Mutation_p.D13N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.D332N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.D332N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	332					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.D332N(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATATTAGTGTCACTTTTGTTA	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											157	151	153					6																	91257852		2203	4300	6503	91314573	SO:0001583	missense	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.994G>A	6.37:g.91257852C>T	ENSP00000358335:p.Asp332Asn		91314573	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258733	0.80246	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000369320;ENST00000450832	T;T;T;T	0.77229	-1.01;-1.07;-1.08;-1.01	6.07	6.07	0.98685	.	0.086068	0.85682	D	0.000000	T	0.60521	0.2275	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.26258	0.006;0.145;0.009;0.011	B;B;B;B	0.26969	0.005;0.075;0.019;0.008	T	0.61227	-0.7105	10	0.72032	D	0.01	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	332;332;332;332	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	N	332;332;332;332;13;259	ENSP00000358338:D332N;ENSP00000358335:D332N;ENSP00000358331:D332N;ENSP00000358333:D332N	ENSP00000358326:D13N	D	-	1	0	MAP3K7	91314573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.072000	0.76777	2.890000	0.99128	0.585000	0.79938	GAC		0.348	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		T	91257852	C	T	91257852	3	4	130	1	0	0	0	0	1	0	0	0	9255	826	29	2	858	2	MAP3K7	6	91257852	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	21217456	91257852	79857215	22	7101											
MAGI2	9863	genome.wustl.edu	37	7	77885461	77885461	+	Missense_Mutation	SNP	C	C	G	rs140241281		TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr7:77885461C>G	ENST00000354212.4	-	10	2099	c.1846G>C	c.(1846-1848)Ggc>Cgc	p.G616R	MAGI2_ENST00000419488.1_Missense_Mutation_p.G616R|MAGI2_ENST00000535697.1_Missense_Mutation_p.G453R|MAGI2_ENST00000522391.1_Missense_Mutation_p.G616R|MAGI2_ENST00000536571.1_Missense_Mutation_p.G448R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	616	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.G616R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATAGTGAAGCCGAAGCCCTGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	7											73	64	67					7																	77885461		2203	4300	6503	77723397	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1846G>C	7.37:g.77885461C>G	ENSP00000346151:p.Gly616Arg		77723397	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305951	0.81247	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56	5.85	5.85	0.93711	PDZ/DHR/GLGF (4);	0.000000	0.37261	U	0.002175	D	0.97099	0.9052	H	0.98388	4.22	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98202	1.0468	10	0.87932	D	0	.	19.1657	0.93557	0.0:1.0:0.0:0.0	.	453;448;616;616;616;616	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	R	616;616;616;616;448;453	ENSP00000405766:G616R;ENSP00000346151:G616R;ENSP00000428389:G616R;ENSP00000441584:G448R;ENSP00000441603:G453R	ENSP00000346151:G616R	G	-	1	0	MAGI2	77723397	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.818000	0.86416	2.771000	0.95319	0.561000	0.74099	GGC		0.522	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		G	77885461	C	G	77885461	3	3	130	1	0	0	0	0	1	0	0	0	9191	652	23	3	2573	3	MAGI2	7	77885461	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09		77885461	81253202	23	7102											
STAG3	10734	genome.wustl.edu	37	7	99798487	99798487	+	Silent	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr7:99798487C>T	ENST00000426455.1	+	19	2363	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	STAG3_ENST00000394018.2_Silent_p.L594L|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.L652L|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	652					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.L652L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTACCTGCTCTGTAATCCCG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	7											54	51	52					7																	99798487		2203	4300	6503	99636423	SO:0001819	synonymous_variant	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1956C>T	7.37:g.99798487C>T			99636423	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	CCDS34703.1																																																																																				0.587	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		T	99798487	C	T	99798487	2	4	130	1	0	0	0	0	0	0	0	1	15246	900	32	2		2	STAG3	7	99798487	Silent	SNP	C	TCGA-13-1482-01A-01W-0549-09	21913026	99798487	59340176	24	7103											
WNT16	51384	genome.wustl.edu	37	7	120979284	120979284	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr7:120979284G>A	ENST00000222462.2	+	4	1273	c.983G>A	c.(982-984)gGt>gAt	p.G328D	WNT16_ENST00000361301.2_Missense_Mutation_p.G318D	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	328					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.G328D(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TGTGGCCGAGGTTACAACACC	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											159	110	126					7																	120979284		2203	4300	6503	120766520	SO:0001583	missense	51384			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.983G>A	7.37:g.120979284G>A	ENSP00000222462:p.Gly328Asp		120766520	Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	CCDS5781.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412862	0.96072	.	.	ENSG00000002745	ENST00000361301;ENST00000222462	T;T	0.79940	-1.32;-1.32	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93596	0.6926	10	0.87932	D	0	.	20.0762	0.97745	0.0:0.0:1.0:0.0	.	328;318	Q9UBV4;E9PH60	WNT16_HUMAN;.	D	318;328	ENSP00000355065:G318D;ENSP00000222462:G328D	ENSP00000222462:G328D	G	+	2	0	WNT16	120766520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	GGT		0.527	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		A	120979284	G	A	120979284	3	1	130	1	0	0	0	0	1	0	0	0	17385	1261	44	2	1066	2	WNT16	7	120979284	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09	21180797	120979284	38159379	25	7104											
TRIM24	8805	genome.wustl.edu	37	7	138269549	138269549	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr7:138269549G>C	ENST00000343526.4	+	19	3221	c.3006G>C	c.(3004-3006)aaG>aaC	p.K1002N	TRIM24_ENST00000415680.2_Missense_Mutation_p.K968N			O15164	TIF1A_HUMAN	tripartite motif containing 24	1002					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K968N(1)|p.K1002N(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AACTTCTAAAGAACCTCTATC	0.333																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											2	Substitution - Missense(2)	ovary(2)	7											52	53	53					7																	138269549		2200	4299	6499	137920089	SO:0001583	missense	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.3006G>C	7.37:g.138269549G>C	ENSP00000340507:p.Lys1002Asn		137920089	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331646	0.41297	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680	T;T	0.19669	2.13;2.13	5.85	3.83	0.44106	Bromodomain (3);	0.328795	0.33875	N	0.004467	T	0.19046	0.0457	L	0.43152	1.355	0.39408	D	0.966698	P;P	0.47677	0.899;0.483	P;P	0.46076	0.503;0.479	T	0.04268	-1.0964	10	0.25106	T	0.35	-20.4118	7.0927	0.25293	0.1931:0.1455:0.6615:0.0	.	1002;968	O15164;O15164-2	TIF1A_HUMAN;.	N	1002;394;913;968	ENSP00000340507:K1002N;ENSP00000390829:K968N	ENSP00000340507:K1002N	K	+	3	2	TRIM24	137920089	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.926000	0.40084	1.480000	0.48289	-0.142000	0.14014	AAG		0.333	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		C	138269549	G	C	138269549	3	2	130	1	0	0	0	0	1	0	0	0	16498	933	33	3	3080	3	TRIM24	7	138269549	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09	17290265	138269549	20869114	26	7105											
ALDH1A1	216	genome.wustl.edu	37	9	75531968	75531968	+	Silent	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr9:75531968C>T	ENST00000297785.3	-	9	957	c.903G>A	c.(901-903)caG>caA	p.Q301Q	ALDH1A1_ENST00000376939.1_Missense_Mutation_p.S228N	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	301					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.Q301Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	CTATACAACACTGGCCCTGGT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	9											104	108	107					9																	75531968		2203	4300	6503	74721788	SO:0001819	synonymous_variant	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.903G>A	9.37:g.75531968C>T			74721788	O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179374	0.38511	.	.	ENSG00000165092	ENST00000376939	T	0.16073	2.37	5.95	-7.39	0.01402	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.22253	N	0.999252	.	.	.	.	.	.	T	0.43048	-0.9415	6	0.87932	D	0	.	17.9843	0.89151	0.0:0.3046:0.0:0.6954	.	.	.	.	N	228	ENSP00000366138:S228N	ENSP00000366138:S228N	S	-	2	0	ALDH1A1	74721788	0.013000	0.17824	0.252000	0.24328	0.526000	0.34562	-0.979000	0.03774	-1.709000	0.01399	-0.781000	0.03364	AGT		0.383	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			T	75531968	C	T	75531968	2	4	130	1	0	0	0	0	0	0	0	1	490	564	20	2		2	ALDH1A1	9	75531968	Silent	SNP	C	TCGA-13-1482-01A-01W-0549-09		75531968	65681463	27	7106											
FAM171A1	221061	genome.wustl.edu	37	10	15256365	15256365	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr10:15256365C>A	ENST00000378116.4	-	8	1228	c.1222G>T	c.(1222-1224)Ggg>Tgg	p.G408W	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	408						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G408W(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCAGGTCCCCTTCGCCGCCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	10											59	63	62					10																	15256365		2203	4300	6503	15296371	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1222G>T	10.37:g.15256365C>A	ENSP00000367356:p.Gly408Trp		15296371	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629998	0.28978	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.31769	1.48	5.14	5.14	0.70334	.	0.539387	0.20787	N	0.085682	T	0.36220	0.0959	N	0.22421	0.69	0.24342	N	0.994953	P	0.51537	0.946	P	0.53722	0.733	T	0.17837	-1.0356	10	0.46703	T	0.11	-8.9253	18.8133	0.92068	0.0:1.0:0.0:0.0	.	408	Q5VUB5	F1711_HUMAN	W	408;409	ENSP00000367356:G408W	ENSP00000367356:G408W	G	-	1	0	FAM171A1	15296371	0.895000	0.30542	0.088000	0.20740	0.169000	0.22640	3.519000	0.53458	2.667000	0.90743	0.563000	0.77884	GGG		0.617	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		A	15256365	C	A	15256365	3	1	130	1	0	0	0	0	1	0	0	0	5490	681	24	3	1454	3	FAM171A1	10	15256365	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09		15256365	120278382	28	7107											
BICC1	80114	genome.wustl.edu	37	10	60560712	60560713	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	GG	GG	GG	TT	GG	GG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr10:60560712_60560713GG>TT	ENST00000373886.3	+	14	1925_1926	c.1921_1922GG>TT	c.(1921-1923)GGt>TTt	p.G641F	BICC1_ENST00000263103.1_Missense_Mutation_p.G267F	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	641					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGGGAATGCTGGTGACTTGAAA	0.436																																																0			10																																								60230719	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	Exception_encountered	10.37:g.60560712_60560713delinsTT	ENSP00000362993:p.Gly641Phe		60230718		Missense_Mutation	DNP	ENST00000373886.3	37	CCDS31206.1																																																																																				0.436	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		TT	60560713	GG	TT	60560712	3	4	130	1	0	0	0	0	1	0	0	0	1427	1348	47	3	1975	3	BICC1	10	60560712	Missense_Mutation	DNP	GG	TCGA-13-1482-01A-01W-0549-09	45304347	60560712	74974035	29	7108											
ENTPD7	57089	genome.wustl.edu	37	10	101439150	101439150	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr10:101439150C>A	ENST00000370489.4	+	4	502	c.324C>A	c.(322-324)aaC>aaA	p.N108K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	108						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.N108K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ATAATGGGAACCCCCATGACT	0.428																																																1	Substitution - Missense(1)	ovary(1)	10											87	88	87					10																	101439150		2203	4300	6503	101429140	SO:0001583	missense	57089			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.324C>A	10.37:g.101439150C>A	ENSP00000359520:p.Asn108Lys		101429140	B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581714	0.46006	.	.	ENSG00000198018	ENST00000370489	T	0.15718	2.4	5.26	2.38	0.29361	.	0.048136	0.85682	D	0.000000	T	0.20251	0.0487	L	0.46157	1.445	0.43107	D	0.994808	P	0.35307	0.494	P	0.44673	0.457	T	0.03555	-1.1025	10	0.33940	T	0.23	-25.7313	9.7089	0.40233	0.0:0.7115:0.0:0.2885	.	108	Q9NQZ7	ENTP7_HUMAN	K	108	ENSP00000359520:N108K	ENSP00000359520:N108K	N	+	3	2	ENTPD7	101429140	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.083000	0.30815	0.801000	0.34066	0.655000	0.94253	AAC		0.428	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		A	101439150	C	A	101439150	3	1	130	1	0	0	0	0	1	0	0	0	5144	506	18	3	334	3	ENTPD7	10	101439150	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	40878438	101439150	34095597	30	7109											
SLC22A12	116085	genome.wustl.edu	37	11	64359149	64359171	+	Frame_Shift_Del	DEL	TCGGCCGCCGTGCCCAGCCACCG	TCGGCCGCCGTGCCCAGCCACCG	-	rs148378818|rs200499531|rs144313367|rs3802948	byFrequency	TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	TCGGCCGCCGTGCCCAGCCACCG	TCGGCCGCCGTGCCCAGCCACCG	TCGGCCGCCGTGCCCAGCCACCG	-	TCGGCCGCCGTGCCCAGCCACCG	TCGGCCGCCGTGCCCAGCCACCG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr11:64359149_64359171delTCGGCCGCCGTGCCCAGCCACCG	ENST00000377574.1	+	1	868_890	c.121_143delTCGGCCGCCGTGCCCAGCCACCG	c.(121-144)tcggccgccgtgcccagccaccgcfs	p.SAAVPSHR41fs	SLC22A12_ENST00000377567.2_Frame_Shift_Del_p.SAAVPSHR41fs|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Frame_Shift_Del_p.SAAVPSHR41fs|SLC22A12_ENST00000377572.1_Frame_Shift_Del_p.SAAVPSHR41fs	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	41					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.S41L(1)|p.S41fs*22(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GGAGAACTTCTCGGCCGCCGTGCCCAGCCACCGCTGCTGGGCA	0.65																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|skin(1)	11																																								64115747	SO:0001589	frameshift_variant	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.121_143delTCGGCCGCCGTGCCCAGCCACCG	11.37:g.64359149_64359171delTCGGCCGCCGTGCCCAGCCACCG	ENSP00000366797:p.Ser41fs		64115725	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Frame_Shift_Del	DEL	ENST00000377574.1	37	CCDS8075.1																																																																																				0.65	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		-	64359171	TCGGCCGCCGTGCCCAGCCACCG	-	64359149	7	5	130	1	0	1	0	1	0	0	0	0	14446	1551	54	0	123	0	SLC22A12	11	64359149	Frame_Shift_Del	DEL	TCGGCCGCCGTGCCCAGCCACCG	TCGA-13-1482-01A-01W-0549-09		64359149	70647367	31	7110											
KRT2	3849	genome.wustl.edu	37	12	53041563	53041563	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr12:53041563T>C	ENST00000309680.3	-	6	1220	c.1199A>G	c.(1198-1200)aAc>aGc	p.N400S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	400	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.N400S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GATCACGCGGTTCAGCTCGCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	12											100	67	78					12																	53041563		2203	4300	6503	51327830	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1199A>G	12.37:g.53041563T>C	ENSP00000310861:p.Asn400Ser		51327830	Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.418012	0.42918	.	.	ENSG00000172867	ENST00000309680	D	0.89123	-2.47	4.89	4.89	0.63831	Filament (1);	.	.	.	.	D	0.95191	0.8441	M	0.93106	3.38	0.32810	D	0.501337	D	0.76494	0.999	D	0.78314	0.991	D	0.96600	0.9444	9	0.62326	D	0.03	.	11.3211	0.49421	0.0:0.0:0.1976:0.8024	.	400	P35908	K22E_HUMAN	S	400	ENSP00000310861:N400S	ENSP00000310861:N400S	N	-	2	0	KRT2	51327830	0.997000	0.39634	1.000000	0.80357	0.040000	0.13550	0.735000	0.26115	1.977000	0.57605	0.455000	0.32223	AAC		0.582	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		C	53041563	T	C	53041563	3	2	130	1	0	0	0	0	1	0	0	0	8457	1725	60	4	736	4	KRT2	12	53041563	Missense_Mutation	SNP	T	TCGA-13-1482-01A-01W-0549-09		53041563	80810332	32	7111											
TMBIM4	51643	genome.wustl.edu	37	12	66546129	66546129	+	Silent	SNP	G	G	A	rs201499761		TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr12:66546129G>A	ENST00000358230.3	-	3	354	c.234C>T	c.(232-234)ctC>ctT	p.L78L	TMBIM4_ENST00000556010.1_Silent_p.L78L|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000542724.1_Silent_p.L47L|TMBIM4_ENST00000539652.1_Silent_p.L78L|TMBIM4_ENST00000286424.7_Silent_p.L125L|TMBIM4_ENST00000398033.4_Silent_p.L78L	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	78					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)		p.L78L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		CCAGAGATCCGAGGGCAAACA	0.328													G|||	1	0.000199681	0	0	5008	,	,		13603	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	12						G		1,3653		0,1,1826	85	81	82		234	-8.7	0	12		82	0,8160		0,0,4080	no	coding-synonymous	TMBIM4	NM_016056.2		0,1,5906	AA,AG,GG		0.0,0.0274,0.0085		78/239	66546129	1,11813	1827	4080	5907	64832396	SO:0001819	synonymous_variant	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.234C>T	12.37:g.66546129G>A			64832396	Q542Z6|Q9UHY5|Q9Y3C2	Silent	SNP	ENST00000358230.3	37	CCDS41805.1																																																																																				0.328	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		A	66546129	G	A	66546129	2	1	130	1	0	0	0	0	0	0	0	1	15982	1045	37	1		1	TMBIM4	12	66546129	Silent	SNP	G	TCGA-13-1482-01A-01W-0549-09	13504566	66546129	67305766	33	7112											
MYO16	23026	genome.wustl.edu	37	13	109318342	109318342	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr13:109318342G>A	ENST00000357550.2	+	1	112	c.71G>A	c.(70-72)cGc>cAc	p.R24H	MYO16_ENST00000356711.2_Missense_Mutation_p.R24H|MYO16_ENST00000251041.5_Missense_Mutation_p.R24H	NM_001198950.1	NP_001185879.1			myosin XVI									p.R24H(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAGCGCATGCGCTGTGAGCAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	13											88	77	81					13																	109318342		2203	4300	6503	108116343	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.71G>A	13.37:g.109318342G>A	ENSP00000350160:p.Arg24His		108116343		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266931	0.95399	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.48836	0.8;0.8;0.8	5.37	5.37	0.77165	.	0.000000	0.37261	U	0.002170	T	0.57051	0.2027	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.53933	-0.8368	9	.	.	.	.	18.0975	0.89494	0.0:0.0:1.0:0.0	.	24;24	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	H	24	ENSP00000349145:R24H;ENSP00000350160:R24H;ENSP00000251041:R24H	.	R	+	2	0	MYO16	108116343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.114000	0.94329	2.506000	0.84524	0.650000	0.86243	CGC		0.507	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		A	109318342	G	A	109318342	3	1	130	1	0	0	0	0	1	0	0	0	10064	1087	38	1	73	1	MYO16	13	109318342	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09		109318342	5851536	34	7113											
CTSG	1511	genome.wustl.edu	37	14	25042874	25042874	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr14:25042874T>A	ENST00000216336.2	-	5	773	c.737A>T	c.(736-738)aAa>aTa	p.K246I		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	246					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.K246I(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ATCCAGCAGTTTGAAGCTTCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	14											184	193	190					14																	25042874		2203	4300	6503	24112714	SO:0001583	missense	1511			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.737A>T	14.37:g.25042874T>A	ENSP00000216336:p.Lys246Ile		24112714	Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047902	0.36085	.	.	ENSG00000100448	ENST00000216336	D	0.88975	-2.45	4.63	-0.538	0.11868	.	2.196060	0.02406	N	0.081100	T	0.79730	0.4496	N	0.25332	0.735	0.09310	N	1	P	0.40875	0.731	B	0.34093	0.175	T	0.71234	-0.4653	10	0.54805	T	0.06	.	4.129	0.10141	0.0:0.2092:0.3927:0.3981	.	246	P08311	CATG_HUMAN	I	246	ENSP00000216336:K246I	ENSP00000216336:K246I	K	-	2	0	CTSG	24112714	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.065000	0.14466	0.017000	0.15025	0.448000	0.29417	AAA		0.527	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		A	25042874	T	A	25042874	3	1	130	1	0	0	0	0	1	0	0	0	4035	1841	64	5	34	5	CTSG	14	25042874	Missense_Mutation	SNP	T	TCGA-13-1482-01A-01W-0549-09		25042874	82306666	35	7114											
UNC13C	440279	genome.wustl.edu	37	15	54305940	54305940	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr15:54305940T>A	ENST00000260323.11	+	1	840	c.840T>A	c.(838-840)agT>agA	p.S280R	UNC13C_ENST00000545554.1_Missense_Mutation_p.S280R|UNC13C_ENST00000537900.1_Missense_Mutation_p.S280R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	280					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.S280R(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTCCAGCAGTGTGGAGGTTG	0.448																																																1	Substitution - Missense(1)	ovary(1)	15											114	111	112					15																	54305940		1975	4179	6154	52093232	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.840T>A	15.37:g.54305940T>A	ENSP00000260323:p.Ser280Arg		52093232	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392921	0.62066	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83591	-1.74;-1.74;-1.74	5.08	-5.78	0.02362	.	.	.	.	.	D	0.83119	0.5185	L	0.27053	0.805	0.41004	D	0.984953	D	0.76494	0.999	D	0.80764	0.994	T	0.82494	-0.0429	9	0.62326	D	0.03	.	15.7124	0.77641	0.0:0.6401:0.0:0.3599	.	280	Q8NB66	UN13C_HUMAN	R	280	ENSP00000260323:S280R;ENSP00000438156:S280R;ENSP00000442569:S280R	ENSP00000260323:S280R	S	+	3	2	UNC13C	52093232	0.014000	0.17966	0.939000	0.37840	0.915000	0.54546	-0.999000	0.03697	-1.280000	0.02402	-1.064000	0.02280	AGT		0.448	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54305940	T	A	54305940	3	1	130	1	0	0	0	0	1	0	0	0	16986	1693	59	5	842	5	UNC13C	15	54305940	Missense_Mutation	SNP	T	TCGA-13-1482-01A-01W-0549-09		54305940	48225452	36	7115											
ISLR	3671	genome.wustl.edu	37	15	74467669	74467669	+	Missense_Mutation	SNP	G	G	A	rs200106724		TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr15:74467669G>A	ENST00000249842.3	+	2	827	c.470G>A	c.(469-471)cGc>cAc	p.R157H	ISLR_ENST00000395118.1_Missense_Mutation_p.R157H|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	157					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.R157H(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						AACCACAACCGCTTGCACACA	0.627																																																1	Substitution - Missense(1)	ovary(1)	15						G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	73	70	71		470,470	3.1	1	15		71	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	ISLR	NM_005545.3,NM_201526.1	29,29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	157/429,157/429	74467669	1,12989	2198	4297	6495	72254722	SO:0001583	missense	3671			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.470G>A	15.37:g.74467669G>A	ENSP00000249842:p.Arg157His		72254722		Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695464	0.30052	0.0	1.16E-4	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.58210	0.35;0.35	4.05	3.12	0.35913	.	0.155386	0.27966	U	0.017136	T	0.30696	0.0773	L	0.28192	0.835	0.35381	D	0.78995	P	0.38729	0.644	B	0.32022	0.139	T	0.44314	-0.9336	10	0.62326	D	0.03	.	4.009	0.09615	0.3957:0.0:0.6043:0.0	.	157	O14498	ISLR_HUMAN	H	157	ENSP00000249842:R157H;ENSP00000378550:R157H	ENSP00000249842:R157H	R	+	2	0	ISLR	72254722	0.812000	0.29077	1.000000	0.80357	0.156000	0.22039	1.874000	0.39568	1.822000	0.53115	0.313000	0.20887	CGC		0.627	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		A	74467669	G	A	74467669	3	1	130	1	0	0	0	0	1	0	0	0	7858	1087	38	1	472	1	ISLR	15	74467669	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09	20161729	74467669	28063723	37	7116											
GOLGA6C	653641	genome.wustl.edu	37	15	75556405	75556405	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr15:75556405A>G	ENST00000300576.5	+	7	545	c.545A>G	c.(544-546)cAg>cGg	p.Q182R		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	182						Golgi apparatus (GO:0005794)		p.Q182R(1)		ovary(1)	1						GTGTCTACACAGCAGCAGGAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	15											5	6	6					15																	75556405		84	576	660	73343458	SO:0001583	missense	653641				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.545A>G	15.37:g.75556405A>G	ENSP00000300576:p.Gln182Arg		73343458		Missense_Mutation	SNP	ENST00000300576.5	37	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670427	0.29693	.	.	ENSG00000167195	ENST00000300576	T	0.20598	2.06	.	.	.	.	.	.	.	.	T	0.34106	0.0886	M	0.86343	2.81	0.32073	N	0.594185	P	0.42039	0.769	P	0.49332	0.607	T	0.39121	-0.9629	8	0.40728	T	0.16	.	4.5877	0.12291	0.9995:0.0:5.0E-4:0.0	.	182	A6NDK9	GOG6C_HUMAN	R	182	ENSP00000300576:Q182R	ENSP00000300576:Q182R	Q	+	2	0	GOLGA6C	73343458	1.000000	0.71417	0.030000	0.17652	0.030000	0.12068	3.418000	0.52721	0.138000	0.18790	0.136000	0.15936	CAG		0.557	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		G	75556405	A	G	75556405	3	3	130	1	0	0	0	0	1	0	0	0	6559	188	7	4	571	4	GOLGA6C	15	75556405	Missense_Mutation	SNP	A	TCGA-13-1482-01A-01W-0549-09	1088736	75556405	26974987	38	7117											
IL16	3603	genome.wustl.edu	37	15	81552159	81552159	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr15:81552159C>A	ENST00000302987.4	+	2	359	c.359C>A	c.(358-360)gCa>gAa	p.A120E	IL16_ENST00000394660.2_Missense_Mutation_p.A120E			Q14005	IL16_HUMAN	interleukin 16	120					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A120E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAACTAGAAGCACAAAGTAGT	0.443																																																1	Substitution - Missense(1)	ovary(1)	15											84	84	84					15																	81552159		1891	4105	5996	79339214	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.359C>A	15.37:g.81552159C>A	ENSP00000302935:p.Ala120Glu		79339214	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	7.910	0.736234	0.15574	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000302987	T;T	0.11385	2.78;2.78	4.52	3.61	0.41365	.	0.398331	0.18228	N	0.147651	T	0.12860	0.0312	M	0.63428	1.95	0.09310	N	0.999999	P;P	0.44429	0.745;0.835	B;P	0.44561	0.265;0.453	T	0.11665	-1.0578	10	0.24483	T	0.36	.	5.9329	0.19148	0.0:0.7006:0.1957:0.1037	.	120;120	Q14005;Q14005-2	IL16_HUMAN;.	E	120	ENSP00000378155:A120E;ENSP00000302935:A120E	ENSP00000302935:A120E	A	+	2	0	IL16	79339214	0.089000	0.21612	0.002000	0.10522	0.260000	0.26232	0.870000	0.28010	1.117000	0.41842	0.563000	0.77884	GCA		0.443	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		A	81552159	C	A	81552159	3	1	130	1	0	0	0	0	1	0	0	0	7633	710	25	3	365	3	IL16	15	81552159	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	5995754	81552159	20979233	39	7118											
SV2B	9899	genome.wustl.edu	37	15	91795145	91795145	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr15:91795145C>T	ENST00000394232.1	+	3	1018	c.548C>T	c.(547-549)gCc>gTc	p.A183V	SV2B_ENST00000557291.1_3'UTR|SV2B_ENST00000545111.2_Missense_Mutation_p.A32V|SV2B_ENST00000330276.4_Missense_Mutation_p.A183V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	183					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.A183V(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATGTCTCTGGCCGTCAATGCC	0.572																																																1	Substitution - Missense(1)	ovary(1)	15											145	117	127					15																	91795145		2198	4298	6496	89596149	SO:0001583	missense	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.548C>T	15.37:g.91795145C>T	ENSP00000377779:p.Ala183Val		89596149	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627091	0.87560	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.73047	-0.71;-0.71;-0.71	5.38	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.313990	0.38959	N	0.001503	T	0.66117	0.2757	L	0.33710	1.025	0.50313	D	0.99986	B	0.34061	0.436	B	0.43155	0.41	T	0.61168	-0.7117	10	0.21014	T	0.42	-25.6936	14.8481	0.70275	0.0:0.8551:0.1449:0.0	.	183	Q7L1I2	SV2B_HUMAN	V	32;183;183	ENSP00000443243:A32V;ENSP00000377779:A183V;ENSP00000332818:A183V	ENSP00000332818:A183V	A	+	2	0	SV2B	89596149	1.000000	0.71417	0.901000	0.35422	0.995000	0.86356	5.849000	0.69465	1.348000	0.45733	0.563000	0.77884	GCC		0.572	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		T	91795145	C	T	91795145	3	4	130	1	0	0	0	0	1	0	0	0	15418	739	26	2	554	2	SV2B	15	91795145	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	10242986	91795145	10736247	40	7119											
E4F1	1877	genome.wustl.edu	37	16	2282783	2282783	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	T	T	G	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr16:2282783T>G	ENST00000301727.4	+	6	805	c.757T>G	c.(757-759)Tgt>Ggt	p.C253G	E4F1_ENST00000565090.1_Missense_Mutation_p.C253G|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000564139.1_Missense_Mutation_p.C253G	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	253	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.C253G(1)		ovary(1)	1						GTGCTCCAAGTGTGGAAAGAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											60	68	65					16																	2282783		2197	4300	6497	2222784	SO:0001583	missense	1877			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.757T>G	16.37:g.2282783T>G	ENSP00000301727:p.Cys253Gly		2222784	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518966	0.64634	.	.	ENSG00000167967	ENST00000301727	D	0.85861	-2.04	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94977	0.8122	10	0.87932	D	0	-8.6789	15.0285	0.71687	0.0:0.0:0.0:1.0	.	249;253;253	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	G	253	ENSP00000301727:C253G	ENSP00000301727:C253G	C	+	1	0	E4F1	2222784	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.846000	0.86887	2.234000	0.73211	0.459000	0.35465	TGT		0.612	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		G	2282783	T	G	2282783	3	3	130	1	0	0	0	0	1	0	0	0	4874	1696	59	5	779	5	E4F1	16	2282783	Missense_Mutation	SNP	T	TCGA-13-1482-01A-01W-0549-09		2282783	88071970	41	7120											
ERN2	10595	genome.wustl.edu	37	16	23706580	23706580	+	Nonsense_Mutation	SNP	C	C	A	rs374029883		TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr16:23706580C>A	ENST00000457008.2	-	14	1623	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	ERN2_ENST00000256797.4_Nonsense_Mutation_p.E629*					endoplasmic reticulum to nucleus signaling 2									p.E580*(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGTCCCCGCTCGGTGCAGAAG	0.632																																																1	Substitution - Nonsense(1)	ovary(1)	16											37	39	38					16																	23706580		2197	4300	6497	23614081	SO:0001587	stop_gained	10595			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1585G>T	16.37:g.23706580C>A	ENSP00000413812:p.Glu529*		23614081		Nonsense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	C	39	7.518069	0.98332	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5778	0.87956	0.0:1.0:0.0:0.0	.	.	.	.	X	629;529	.	ENSP00000256797:E629X	E	-	1	0	ERN2	23614081	1.000000	0.71417	0.957000	0.39632	0.929000	0.56500	7.445000	0.80570	2.825000	0.97269	0.655000	0.94253	GAG		0.632	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			A	23706580	C	A	23706580	4	1	130	1	0	0	0	0	0	1	0	0	5238	893	31	3	1071	3	ERN2	16	23706580	Nonsense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	21423797	23706580	66648173	42	7121											
MMP2	4313	genome.wustl.edu	37	16	55532238	55532238	+	Silent	SNP	G	G	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr16:55532238G>A	ENST00000219070.4	+	11	2156	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	MMP2_ENST00000570308.1_Silent_p.E473E|MMP2_ENST00000437642.2_Silent_p.E499E|MMP2_ENST00000543485.1_Silent_p.E473E	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	549	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.E549E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GCACCCTGGAGCGAGGGTACC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	16											88	74	79					16																	55532238		2198	4300	6498	54089739	SO:0001819	synonymous_variant	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1647G>A	16.37:g.55532238G>A			54089739	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	CCDS10752.1																																																																																				0.572	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			A	55532238	G	A	55532238	2	1	130	1	0	0	0	0	0	0	0	1	9658	962	34	2		2	MMP2	16	55532238	Silent	SNP	G	TCGA-13-1482-01A-01W-0549-09	31825658	55532238	34822515	43	7122											
TP53	7157	genome.wustl.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	A	rs121912660		TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr17:7577099C>A	ENST00000269305.4	-	8	1028	c.839G>T	c.(838-840)aGa>aTa	p.R280I	TP53_ENST00000420246.2_Missense_Mutation_p.R280I|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R280I|TP53_ENST00000359597.4_Missense_Mutation_p.R280I|TP53_ENST00000445888.2_Missense_Mutation_p.R280I	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GCGCCGGTCTCTCCCAGGACA	0.542		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"	154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	17	GRCh37	CM993218	TP53	M	rs121912660						77	67	70					17																	7577099		2203	4300	6503	7517824	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.839G>T	17.37:g.7577099C>A	ENSP00000269305:p.Arg280Ile		7517824	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380644	0.95945	.	.	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	5.13	5.13	0.70059	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	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.91635	0.99;0.999;0.99;0.99	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	I	280;280;280;280;280;269;148	ENSP00000352610:R280I;ENSP00000269305:R280I;ENSP00000398846:R280I;ENSP00000391127:R280I;ENSP00000391478:R280I;ENSP00000425104:R148I	ENSP00000269305:R280I	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577099	C	A	7577099	3	1	130	1	0	0	0	0	1	0	0	0	16381	913	32	3	447	3	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09		7577099	73618111	44	7123											
MRC2	9902	genome.wustl.edu	37	17	60765701	60765701	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr17:60765701G>A	ENST00000303375.5	+	21	3400	c.2998G>A	c.(2998-3000)Gca>Aca	p.A1000T	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1000	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.A1000T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTGGTCAGAGGCACAGTTCTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											58	49	52					17																	60765701		2203	4300	6503	58119433	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2998G>A	17.37:g.60765701G>A	ENSP00000307513:p.Ala1000Thr		58119433	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726969	0.89390	.	.	ENSG00000011028	ENST00000303375	T	0.53857	0.6	5.17	4.2	0.49525	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.80793	0.4691	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86566	0.1844	10	0.87932	D	0	-8.243	13.2206	0.59885	0.0781:0.0:0.9219:0.0	.	1000	Q9UBG0	MRC2_HUMAN	T	1000	ENSP00000307513:A1000T	ENSP00000307513:A1000T	A	+	1	0	MRC2	58119433	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.815000	0.75242	1.165000	0.42670	0.561000	0.74099	GCA		0.607	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			A	60765701	G	A	60765701	3	1	130	1	0	0	0	0	1	0	0	0	9758	1203	42	2	3080	2	MRC2	17	60765701	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09	53188602	60765701	20429509	45	7124											
COL5A3	50509	genome.wustl.edu	37	19	10097016	10097016	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr19:10097016C>G	ENST00000264828.3	-	30	2412	c.2327G>C	c.(2326-2328)gGg>gCg	p.G776A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	776	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G776A(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCTGGGGGCCCCTCCTCGCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											24	29	28					19																	10097016		2202	4299	6501	9958016	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2327G>C	19.37:g.10097016C>G	ENSP00000264828:p.Gly776Ala		9958016	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168690	0.78339	.	.	ENSG00000080573	ENST00000264828	D	0.96885	-4.16	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	D	0.98548	0.9515	H	0.94183	3.505	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.99612	1.0981	10	0.87932	D	0	.	14.6541	0.68820	0.0:1.0:0.0:0.0	.	776	P25940	CO5A3_HUMAN	A	776	ENSP00000264828:G776A	ENSP00000264828:G776A	G	-	2	0	COL5A3	9958016	1.000000	0.71417	0.985000	0.45067	0.891000	0.51852	6.969000	0.76092	2.085000	0.62840	0.462000	0.41574	GGG		0.632	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		G	10097016	C	G	10097016	3	3	130	1	0	0	0	0	1	0	0	0	3698	623	22	3	3062	3	COL5A3	19	10097016	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09		10097016	49031967	46	7125											
RFXANK	8625	genome.wustl.edu	37	19	19310021	19310021	+	Silent	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr19:19310021C>T	ENST00000303088.4	+	9	1164	c.690C>T	c.(688-690)gcC>gcT	p.A230A	RFXANK_ENST00000407360.3_Silent_p.A230A|RFXANK_ENST00000392324.4_Silent_p.A207A|RFXANK_ENST00000353145.1_Silent_p.A207A|RFXANK_ENST00000456252.3_Silent_p.A208A	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	230					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.A230A(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TGGACCTTGCCGTGGCCCTGG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	19											80	78	79					19																	19310021		2203	4300	6503	19171021	SO:0001819	synonymous_variant	8625			AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"Ankyrin repeat domain containing"	9987	protein-coding gene	gene with protein product	"ankyrin repeat-containing regulatory factor X-associated protein", "regulatory factor X subunit B", "RFX-Bdelta4", "DNA-binding protein RFXANK"	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.690C>T	19.37:g.19310021C>T			19171021	O95839|Q24JQ1|Q6FGA8	Silent	SNP	ENST00000303088.4	37	CCDS12395.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942954	0.34283	.	.	ENSG00000064490	ENST00000544923;ENST00000536253	T	0.61040	0.14	5.19	-9.36	0.00629	.	.	.	.	.	T	0.51007	0.1649	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61850	-0.6978	5	.	.	.	-7.4837	12.0553	0.53531	0.103:0.1171:0.0:0.78	.	.	.	.	L	20	ENSP00000441042:P20L	.	P	+	2	0	RFXANK	19171021	0.000000	0.05858	0.308000	0.25141	0.903000	0.53119	-3.482000	0.00456	-1.697000	0.01420	-1.036000	0.02392	CCG		0.652	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		T	19310021	C	T	19310021	2	4	130	1	0	0	0	0	0	0	0	1	13272	639	23	1		1	RFXANK	19	19310021	Silent	SNP	C	TCGA-13-1482-01A-01W-0549-09	9213005	19310021	39818962	47	7126											
SLC17A7	57030	genome.wustl.edu	37	19	49938043	49938043	+	Silent	SNP	G	G	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr19:49938043G>A	ENST00000221485.3	-	4	702	c.531C>T	c.(529-531)atC>atT	p.I177I	SLC17A7_ENST00000600601.1_Silent_p.I110I|SLC17A7_ENST00000543531.1_Silent_p.I165I	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	177					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.I177I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		ACCCCTGCAGGATCCTCACGA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19											81	70	73					19																	49938043		2203	4300	6503	54629855	SO:0001819	synonymous_variant	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.531C>T	19.37:g.49938043G>A			54629855	B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	CCDS12764.1																																																																																				0.547	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			A	49938043	G	A	49938043	2	1	130	1	0	0	0	0	0	0	0	1	14425	1164	41	2		2	SLC17A7	19	49938043	Silent	SNP	G	TCGA-13-1482-01A-01W-0549-09	30628022	49938043	9190940	48	7127											
LENG1	79165	genome.wustl.edu	37	19	54660764	54660764	+	Splice_Site	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr19:54660764C>T	ENST00000222224.3	-	3	499		c.e3-1			NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1									p.?(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTGCCTCTCCTGAGGGGGCC	0.542																																																1	Unknown(1)	ovary(1)	19											41	37	39					19																	54660764		2203	4300	6503	59352576	SO:0001630	splice_region_variant	79165			AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.313-1G>A	19.37:g.54660764C>T			59352576	Q9HCU7	Splice_Site	SNP	ENST00000222224.3	37	CCDS12881.1	.	.	.	.	.	.	.	.	.	.	c	14.50	2.554130	0.45487	.	.	ENSG00000105617	ENST00000222224	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6414	0.91397	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LENG1	59352576	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	5.959000	0.70339	2.779000	0.95612	0.655000	0.94253	.		0.542	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316	Intron	T	54660764	C	T	54660764	5	4	130	1	0	0	0	0	0	0	1	0	8723	695	24	2	490	2	LENG1	19	54660764	Splice_Site	SNP	C	TCGA-13-1482-01A-01W-0549-09	4722721	54660764	4468219	49	7128											
PDYN	5173	genome.wustl.edu	37	20	1961196	1961196	+	Missense_Mutation	SNP	G	G	A	rs370283678		TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr20:1961196G>A	ENST00000217305.2	-	4	763	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PDYN_ENST00000540134.1_Missense_Mutation_p.R180C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R180C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R180C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGTATTTGCGCAAAAAGCCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	20						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	98	103	101		538,538,538,538,538	4.7	1	20		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	180/255,180/255,180/255,180/255,180/255	1961196	1,13005	2203	4300	6503	1909196	SO:0001583	missense	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.538C>T	20.37:g.1961196G>A	ENSP00000217305:p.Arg180Cys		1909196	A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513798	0.85389	0.0	1.16E-4	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86956	-2.19;-2.19;-2.19	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:0.0:1.0:0.0	.	180	P01213	PDYN_HUMAN	C	180	ENSP00000440185:R180C;ENSP00000442259:R180C;ENSP00000217305:R180C	ENSP00000217305:R180C	R	-	1	0	PDYN	1909196	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.034000	0.30204	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			A	1961196	G	A	1961196	3	1	130	1	0	0	0	0	1	0	0	0	11699	1087	38	1	230	1	PDYN	20	1961196	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09		1961196	61064324	50	7129											
DSCAM	1826	genome.wustl.edu	37	21	41505831	41505831	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr21:41505831G>A	ENST00000400454.1	-	19	3989	c.3512C>T	c.(3511-3513)gCa>gTa	p.A1171V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1171	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1171V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCGTCTCCTGCGCGGGTGAA	0.592																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - Missense(1)	ovary(1)	21											81	87	85					21																	41505831		2094	4258	6352	40427701	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3512C>T	21.37:g.41505831G>A	ENSP00000383303:p.Ala1171Val		40427701	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592915	0.86953	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57273	0.41;0.41	5.39	5.39	0.77823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	L	0.52266	1.64	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.64972	-0.6281	10	0.35671	T	0.21	.	19.1508	0.93487	0.0:0.0:1.0:0.0	.	1171	O60469	DSCAM_HUMAN	V	1171;923	ENSP00000383303:A1171V;ENSP00000385342:A923V	ENSP00000383303:A1171V	A	-	2	0	DSCAM	40427701	1.000000	0.71417	0.155000	0.22561	0.819000	0.46315	9.603000	0.98315	2.514000	0.84764	0.655000	0.94253	GCA		0.592	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41505831	G	A	41505831	3	1	130	1	0	0	0	0	1	0	0	0	4768	1319	46	2	2586	2	DSCAM	21	41505831	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09		41505831	6624064	51	7130											
KRTAP10-9	386676	genome.wustl.edu	37	21	46047294	46047294	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chr21:46047294C>G	ENST00000397911.3	+	1	255	c.206C>G	c.(205-207)tCa>tGa	p.S69*	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	69	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CCCTGCCAATCAGGCTGCACC	0.701																																																0			21											53	64	60					21																	46047294		2194	4292	6486	44871722	SO:0001587	stop_gained	386676			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.206C>G	21.37:g.46047294C>G	ENSP00000381009:p.Ser69*		44871722	A2RRG1|A6NIR9|Q70LJ1	Nonsense_Mutation	SNP	ENST00000397911.3	37	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	c	11.03	1.518848	0.27211	.	.	ENSG00000221837	ENST00000397911	.	.	.	3.27	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8272	0.13421	0.0:0.7192:0.0:0.2808	.	.	.	.	X	69	.	.	S	+	2	0	KRTAP10-9	44871722	0.002000	0.14202	0.006000	0.13384	0.006000	0.05464	1.510000	0.35790	1.530000	0.49136	0.603000	0.83216	TCA		0.701	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			G	46047294	C	G	46047294	4	3	130	1	0	0	0	0	0	1	0	0	8516	838	29	3	208	3	KRTAP10-9	21	46047294	Nonsense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	4541463	46047294	2082601	52	7131											
ZNF81	347344	genome.wustl.edu	37	X	47774835	47774835	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chrX:47774835A>G	ENST00000376954.1	+	6	1158	c.790A>G	c.(790-792)Aat>Gat	p.N264D	ZNF81_ENST00000338637.7_Missense_Mutation_p.N264D			P51508	ZNF81_HUMAN	zinc finger protein 81	264					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)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCAGTCAAAATGTGAAATT	0.393																																																0			X											56	52	53					X																	47774835		1914	4104	6018	47659779	SO:0001583	missense	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.790A>G	X.37:g.47774835A>G	ENSP00000366153:p.Asn264Asp		47659779	Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420266	0.42918	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.14893	2.47;2.47	3.8	2.62	0.31277	.	0.176982	0.27402	N	0.019538	T	0.09335	0.0230	L	0.27053	0.805	0.21915	N	0.999479	P	0.37781	0.608	B	0.29942	0.109	T	0.21211	-1.0252	10	0.87932	D	0	.	6.5075	0.22204	0.754:0.246:0.0:0.0	.	264	P51508	ZNF81_HUMAN	D	264	ENSP00000366153:N264D;ENSP00000341151:N264D	ENSP00000341151:N264D	N	+	1	0	ZNF81	47659779	0.527000	0.26306	0.454000	0.27019	0.913000	0.54294	2.499000	0.45372	0.628000	0.30357	-0.377000	0.06932	AAT		0.393	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		G	47774835	A	G	47774835	3	3	130	1	0	0	0	0	1	0	0	0	18174	14	1	4	804	4	ZNF81	23	47774835	Missense_Mutation	SNP	A	TCGA-13-1482-01A-01W-0549-09		47774835	107495725	53	7132											
TAF1	6872	genome.wustl.edu	37	X	70679539	70679539	+	Missense_Mutation	SNP	A	A	C	rs202061337		TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chrX:70679539A>C	ENST00000373790.4	+	36	5250	c.5199A>C	c.(5197-5199)gaA>gaC	p.E1733D	TAF1_ENST00000449580.1_Missense_Mutation_p.E1767D|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000423759.1_Missense_Mutation_p.E1756D|TAF1_ENST00000276072.3_Missense_Mutation_p.E1754D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1733	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E1733D(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTGATGAAGAAGGAGACAATC	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											262	192	216					X																	70679539		2203	4300	6503	70596264	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5199A>C	X.37:g.70679539A>C	ENSP00000362895:p.Glu1733Asp		70596264	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.78|14.78	2.637112|2.637112	0.47049|0.47049	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072|ENST00000437147	T;T;T;T|.	0.10763|.	2.89;2.84;2.95;2.9|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40196|0.40196	0.1107|0.1107	N|N	0.20685|0.20685	0.6|0.6	0.46298|0.46298	D|D	0.998978|0.998978	D;D;P;D|.	0.65815|.	0.995;0.99;0.956;0.974|.	D;D;D;D|.	0.73380|.	0.98;0.98;0.931;0.969|.	T|T	0.23833|0.23833	-1.0177|-1.0177	10|5	0.20519|.	T|.	0.43|.	.|.	8.1511|8.1511	0.31141|0.31141	0.8482:0.0:0.1518:0.0|0.8482:0.0:0.1518:0.0	.|.	423;1767;1733;1754|.	A5CVC9;P21675-4;P21675;P21675-2|.	.;.;TAF1_HUMAN;.|.	D|T	1733;1767;1756;475;1754|422	ENSP00000362895:E1733D;ENSP00000389000:E1767D;ENSP00000406549:E1756D;ENSP00000276072:E1754D|.	ENSP00000276072:E1754D|.	E|K	+|+	3|2	2|0	TAF1|TAF1	70596264|70596264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	3.071000|3.071000	0.50041|0.50041	1.781000|1.781000	0.52344|0.52344	0.430000|0.430000	0.28490|0.28490	GAA|AAG		0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		C	70679539	A	C	70679539	3	2	130	1	0	0	0	0	1	0	0	0	15513	69	3	5	5404	5	TAF1	23	70679539	Missense_Mutation	SNP	A	TCGA-13-1482-01A-01W-0549-09	22904704	70679539	84591021	54	7133											
CXCR3	2833	genome.wustl.edu	37	X	70837303	70837303	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chrX:70837303C>T	ENST00000373693.3	-	2	86	c.19G>A	c.(19-21)Gac>Aac	p.D7N	CXCR3_ENST00000373691.4_Missense_Mutation_p.D54N	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	7					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.D7N(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					ACTTGGTGGTCACTCACCTGT	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											45	48	47					X																	70837303		2183	4260	6443	70754028	SO:0001583	missense	2833			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.19G>A	X.37:g.70837303C>T	ENSP00000362797:p.Asp7Asn		70754028	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400206	0.25291	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	T;T	0.70869	-0.52;-0.46	4.55	1.84	0.25277	.	6.577780	0.00397	N	0.000048	T	0.58935	0.2157	N	0.22421	0.69	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.001;0.002	T	0.44221	-0.9342	10	0.48119	T	0.1	.	6.2166	0.20658	0.0:0.6777:0.0:0.3223	.	54;7	P49682-2;P49682	.;CXCR3_HUMAN	N	54;7;7	ENSP00000362795:D54N;ENSP00000362797:D7N	ENSP00000362791:D7N	D	-	1	0	CXCR3	70754028	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.787000	0.04618	0.137000	0.18759	-0.322000	0.08575	GAC		0.522	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			T	70837303	C	T	70837303	3	4	130	1	0	0	0	0	1	0	0	0	4092	826	29	2	1091	2	CXCR3	23	70837303	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	157764	70837303	84433257	55	7134											
RGAG1	57529	genome.wustl.edu	37	X	109694909	109694909	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chrX:109694909C>A	ENST00000465301.2	+	3	1310	c.1064C>A	c.(1063-1065)cCc>cAc	p.P355H	RGAG1_ENST00000540313.1_Missense_Mutation_p.P355H	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	355								p.P355H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACGGCCCTACCCTCTGGAGTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											213	205	208					X																	109694909		2203	4300	6503	109581565	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1064C>A	X.37:g.109694909C>A	ENSP00000419786:p.Pro355His		109581565	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304245	0.40795	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.43688	0.94;0.94	4.42	1.58	0.23477	.	1.030010	0.07799	N	0.956251	T	0.33089	0.0851	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.47162	0.54	T	0.21177	-1.0253	9	.	.	.	1.1667	8.4118	0.32648	0.1614:0.5308:0.3078:0.0	.	355	Q8NET4	RGAG1_HUMAN	H	355	ENSP00000419786:P355H;ENSP00000441452:P355H	.	P	+	2	0	RGAG1	109581565	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.103000	0.15292	0.195000	0.20347	0.600000	0.82982	CCC		0.537	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		A	109694909	C	A	109694909	3	1	130	1	0	0	0	0	1	0	0	0	13277	623	22	3	1066	3	RGAG1	23	109694909	Missense_Mutation	SNP	C	TCGA-13-1482-01A-01W-0549-09	38857606	109694909	45575651	56	7135											
SLC6A14	11254	genome.wustl.edu	37	X	115572242	115572242	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chrX:115572242G>C	ENST00000371900.4	+	3	411	c.323G>C	c.(322-324)tGg>tCg	p.W108S		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	108					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.W108S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GTTTCAGTTTGGAGGATTCTT	0.363																																																1	Substitution - Missense(1)	ovary(1)	X											276	252	260					X																	115572242		2203	4300	6503	115486270	SO:0001583	missense	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.323G>C	X.37:g.115572242G>C	ENSP00000360967:p.Trp108Ser		115486270	Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096114	0.76870	.	.	ENSG00000087916	ENST00000371900	T	0.80123	-1.34	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94342	0.7571	10	0.87932	D	0	.	15.3277	0.74179	0.0:0.0:1.0:0.0	.	108	Q9UN76	S6A14_HUMAN	S	108	ENSP00000360967:W108S	ENSP00000360967:W108S	W	+	2	0	SLC6A14	115486270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.110000	0.94302	2.211000	0.71520	0.544000	0.68410	TGG		0.363	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			C	115572242	G	C	115572242	3	2	130	1	0	0	0	0	1	0	0	0	14680	1357	47	3	333	3	SLC6A14	23	115572242	Missense_Mutation	SNP	G	TCGA-13-1482-01A-01W-0549-09	5877333	115572242	39698318	57	7136											
XIAP	331	genome.wustl.edu	37	X	123020045	123020045	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chrX:123020045A>G	ENST00000371199.3	+	2	832	c.533A>G	c.(532-534)cAc>cGc	p.H178R	XIAP_ENST00000355640.3_Missense_Mutation_p.H178R|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.H178R	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	178					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H178R(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GACTATGCTCACCTAACCCCA	0.443									X-linked Lymphoproliferative syndrome																																							1	Substitution - Missense(1)	ovary(1)	X											106	93	97					X																	123020045		2203	4300	6503	122847726	SO:0001583	missense	331	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.533A>G	X.37:g.123020045A>G	ENSP00000360242:p.His178Arg		122847726	D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.913107	0.33815	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.71222	-0.55;-0.55;-0.55	5.74	4.51	0.55191	Baculoviral inhibition of apoptosis protein repeat (5);	0.169781	0.40640	N	0.001053	T	0.49218	0.1544	N	0.11427	0.14	0.32007	N	0.602567	D	0.60575	0.988	P	0.47864	0.559	T	0.57093	-0.7870	9	.	.	.	-10.4125	1.4217	0.02314	0.4167:0.259:0.084:0.2403	.	178	P98170	XIAP_HUMAN	R	178	ENSP00000395230:H178R;ENSP00000360242:H178R;ENSP00000347858:H178R	.	H	+	2	0	XIAP	122847726	0.803000	0.28956	0.998000	0.56505	0.912000	0.54170	1.776000	0.38594	1.941000	0.56285	0.413000	0.27773	CAC		0.443	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		G	123020045	A	G	123020045	3	3	130	1	0	0	0	0	1	0	0	0	17428	159	6	4	535	4	XIAP	23	123020045	Missense_Mutation	SNP	A	TCGA-13-1482-01A-01W-0549-09	7447803	123020045	32250515	58	7137											
PRRG3	79057	genome.wustl.edu	37	X	150869300	150869301	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-1482-01A-01W-0549-09	TCGA-13-1482-10A-01W-0549-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	a68927d4-e827-49c9-9c3a-23ce0543261b	f0b7b00b-78e4-4668-950c-bc311cdc8d97	g.chrX:150869300_150869301insT	ENST00000370353.3	+	4	881_882	c.491_492insT	c.(490-495)gggggcfs	p.GG164fs	PRRG3_ENST00000538575.1_Frame_Shift_Ins_p.GG164fs			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	164						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R166fs*14(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTCGGGGGGGCAGGACCA	0.663																																																1	Insertion - Frameshift(1)	ovary(1)	X																																								150619957	SO:0001589	frameshift_variant	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	Exception_encountered	X.37:g.150869300_150869301insT	ENSP00000359378:p.Gly164fs		150619956	A1A523|A1A575|Q8N2N6	Frame_Shift_Ins	INS	ENST00000370353.3	37	CCDS14699.1																																																																																				0.663	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		T	150869301	-	T	150869300	7	5	130	1	0	1	1	0	0	0	0	0	12610	1232	43	0	501	0	PRRG3	23	150869300	Frame_Shift_Ins	INS	-	TCGA-13-1482-01A-01W-0549-09	27849255	150869300	4401260	59	7138											
KIF1B	23095	genome.wustl.edu	37	1	10425305	10425305	+	Splice_Site	SNP	T	T	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr1:10425305T>C	ENST00000377086.1	+	42	4714		c.e42+2		KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.?(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTACATGAGGTATCCAGGGGC	0.552																																																1	Unknown(1)	ovary(1)	1											38	39	39					1																	10425305		2203	4300	6503	10347892	SO:0001630	splice_region_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4512+2T>C	1.37:g.10425305T>C			10347892	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Splice_Site	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	T	19.14	3.769935	0.69992	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2691	0.73686	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF1B	10347892	1.000000	0.71417	0.949000	0.38748	0.790000	0.44656	8.040000	0.89188	1.991000	0.58162	0.528000	0.53228	.		0.552	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		Intron	C	10425305	T	C	10425305	5	2	131	1	0	0	0	0	0	0	1	0	8284	1652	57	4	6019	4	KIF1B	1	10425305	Splice_Site	SNP	T	TCGA-13-1483-01A-01W-0549-09		10425305	238825316	1	7139											
SPEN	23013	genome.wustl.edu	37	1	16256441	16256441	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr1:16256441G>C	ENST00000375759.3	+	11	3910	c.3706G>C	c.(3706-3708)Gat>Cat	p.D1236H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1236					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.D1236H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGTCGATTTTGATATCTGCAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											99	93	95					1																	16256441		2203	4300	6503	16129028	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3706G>C	1.37:g.16256441G>C	ENSP00000364912:p.Asp1236His		16129028	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351255	0.41700	.	.	ENSG00000065526	ENST00000375759	T	0.09817	2.94	4.91	4.91	0.64330	.	.	.	.	.	T	0.19366	0.0465	N	0.24115	0.695	0.58432	D	0.999995	D	0.71674	0.998	P	0.60789	0.879	T	0.02251	-1.1188	9	0.72032	D	0.01	-6.1796	18.2949	0.90141	0.0:0.0:1.0:0.0	.	1236	Q96T58	MINT_HUMAN	H	1236	ENSP00000364912:D1236H	ENSP00000364912:D1236H	D	+	1	0	SPEN	16129028	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	7.331000	0.79192	2.555000	0.86185	0.557000	0.71058	GAT		0.473	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16256441	G	C	16256441	3	2	131	1	0	0	0	0	1	0	0	0	15040	1290	45	3	3748	3	SPEN	1	16256441	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	5831136	16256441	232994180	2	7140											
ATG4C	84938	genome.wustl.edu	37	1	63329765	63329765	+	Missense_Mutation	SNP	C	C	A	rs35696652		TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr1:63329765C>A	ENST00000317868.4	+	11	1519	c.1312C>A	c.(1312-1314)Ctt>Att	p.L438I	ATG4C_ENST00000371120.3_Missense_Mutation_p.L438I	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	438					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.L438I(1)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TGAAGAAGACCTTTTTTCAGA	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											62	66	65					1																	63329765		2202	4294	6496	63102353	SO:0001583	missense	84938			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1312C>A	1.37:g.63329765C>A	ENSP00000322159:p.Leu438Ile		63102353	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633359	0.47049	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025	T;T	0.70631	-0.5;-0.5	5.37	5.37	0.77165	.	0.058260	0.64402	D	0.000001	T	0.53738	0.1815	L	0.46157	1.445	0.43942	D	0.996608	P	0.39809	0.689	B	0.36378	0.223	T	0.56486	-0.7971	10	0.27082	T	0.32	-25.428	19.0979	0.93260	0.0:1.0:0.0:0.0	.	438	Q96DT6	ATG4C_HUMAN	I	438	ENSP00000322159:L438I;ENSP00000360161:L438I	ENSP00000322159:L438I	L	+	1	0	ATG4C	63102353	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.148000	0.31614	2.500000	0.84329	0.585000	0.79938	CTT		0.318	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		A	63329765	C	A	63329765	3	1	131	1	0	0	0	0	1	0	0	0	1098	681	24	3	1350	3	ATG4C	1	63329765	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09	47073324	63329765	185920856	3	7141											
ELTD1	64123	genome.wustl.edu	37	1	79383653	79383653	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr1:79383653A>G	ENST00000370742.3	-	11	1607	c.1544T>C	c.(1543-1545)cTc>cCc	p.L515P		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	515					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L515P(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATGAGATAGAGATGTATGCC	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											144	135	138					1																	79383653		1878	4110	5988	79156241	SO:0001583	missense	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1544T>C	1.37:g.79383653A>G	ENSP00000359778:p.Leu515Pro		79156241	B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329922	0.81690	.	.	ENSG00000162618	ENST00000370742	T	0.60171	0.21	6.08	6.08	0.98989	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84435	0.0579	9	.	.	.	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	515	Q9HBW9	ELTD1_HUMAN	P	515	ENSP00000359778:L515P	.	L	-	2	0	ELTD1	79156241	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	CTC		0.393	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		G	79383653	A	G	79383653	3	3	131	1	0	0	0	0	1	0	0	0	5084	304	11	4	548	4	ELTD1	1	79383653	Missense_Mutation	SNP	A	TCGA-13-1483-01A-01W-0549-09	16053888	79383653	169866968	4	7142											
ITLN2	142683	genome.wustl.edu	37	1	160920393	160920393	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr1:160920393T>C	ENST00000368029.3	-	5	607	c.550A>G	c.(550-552)Aac>Gac	p.N184D	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	184	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.N184D(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGCCAGTGTTGGTGCGGTAC	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											166	146	152					1																	160920393		2203	4300	6503	159187017	SO:0001583	missense	142683			AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"Fibrinogen C domain containing"	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.550A>G	1.37:g.160920393T>C	ENSP00000357008:p.Asn184Asp		159187017	Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	6.320	0.427210	0.11987	.	.	ENSG00000158764	ENST00000368029	T	0.14391	2.51	4.47	-8.93	0.00771	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	1.119930	0.07029	N	0.828147	T	0.02193	0.0068	L	0.53729	1.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.40776	-0.9545	10	0.12766	T	0.61	-2.4732	3.0571	0.06188	0.3172:0.4121:0.1025:0.1682	.	183;184	A6NI51;Q8WWU7	.;ITLN2_HUMAN	D	184	ENSP00000357008:N184D	ENSP00000357008:N184D	N	-	1	0	ITLN2	159187017	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.263000	0.02850	-2.082000	0.00868	-1.322000	0.01289	AAC		0.567	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		C	160920393	T	C	160920393	3	2	131	1	0	0	0	0	1	0	0	0	7911	1812	63	4	443	4	ITLN2	1	160920393	Missense_Mutation	SNP	T	TCGA-13-1483-01A-01W-0549-09	81536740	160920393	88330228	5	7143											
PVRL4	81607	genome.wustl.edu	37	1	161042552	161042552	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr1:161042552T>C	ENST00000368012.3	-	9	1734	c.1432A>G	c.(1432-1434)Atc>Gtc	p.I478V	PVRL4_ENST00000486694.1_5'UTR|ARHGAP30_ENST00000368013.3_5'Flank|ARHGAP30_ENST00000368015.1_5'Flank|PVRL4_ENST00000453926.2_Missense_Mutation_p.I187V	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	478					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I478V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCTGTTTGATGCCTTCATCC	0.567																																					NSCLC(76;1160 1387 14476 16172 29359)											1	Substitution - Missense(1)	ovary(1)	1											169	143	152					1																	161042552		2203	4300	6503	159309176	SO:0001583	missense	81607			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1432A>G	1.37:g.161042552T>C	ENSP00000356991:p.Ile478Val		159309176	B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.572732	0.65765	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.48522	0.81;1.18	4.85	4.85	0.62838	.	0.000000	0.48767	D	0.000180	T	0.36799	0.0980	N	0.19112	0.55	0.34776	D	0.734197	P;P;P	0.48640	0.518;0.699;0.913	P;P;P	0.61592	0.456;0.768;0.891	T	0.33343	-0.9872	10	0.33940	T	0.23	.	12.4413	0.55627	0.0:0.0:0.0:1.0	.	187;132;478	B4DQW3;B4DWD4;Q96NY8	.;.;PVRL4_HUMAN	V	478;187	ENSP00000356991:I478V;ENSP00000406015:I187V	ENSP00000356991:I478V	I	-	1	0	PVRL4	159309176	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.760000	0.62235	2.026000	0.59711	0.533000	0.62120	ATC		0.567	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		C	161042552	T	C	161042552	3	2	131	1	0	0	0	0	1	0	0	0	12845	1464	51	4	104	4	PVRL4	1	161042552	Missense_Mutation	SNP	T	TCGA-13-1483-01A-01W-0549-09	122159	161042552	88208069	6	7144											
PPP1R12B	4660	genome.wustl.edu	37	1	202406959	202406959	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr1:202406959G>T	ENST00000608999.1	+	10	1418	c.1265G>T	c.(1264-1266)gGc>gTc	p.G422V	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.W384C|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.G422V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.G422V|RP11-175B9.2_ENST00000602961.1_RNA	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	422					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.G422V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCTCTTCTGGCCTTTTTAAC	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											41	43	42					1																	202406959		2203	4300	6503	200673582	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1265G>T	1.37:g.202406959G>T	ENSP00000476755:p.Gly422Val		200673582	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.639607|1.639607	0.29157|0.29157	.|.	.|.	ENSG00000077157|ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184|ENST00000356764	T;T;T|T	0.69435|0.67523	1.06;1.08;-0.4|-0.27	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.294801|.	0.29868|.	N|.	0.010990|.	T|T	0.61375|0.61375	0.2342|0.2342	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|B	0.31383|0.02656	0.002;0.034;0.321|0.0	B;B;B|B	0.28139|0.01281	0.0;0.02;0.086|0.0	T|T	0.57768|0.57768	-0.7754|-0.7754	9|8	0.38643|0.59425	T|D	0.18|0.04	.|.	16.1554|16.1554	0.81664|0.81664	0.0:0.1332:0.8668:0.0|0.0:0.1332:0.8668:0.0	.|.	422;422;422|384	O60237;F8W8M3;Q2TAI8|O60237-2	MYPT2_HUMAN;.;.|.	V|C	422|384	ENSP00000384496:G422V;ENSP00000337897:G422V;ENSP00000417159:G422V|ENSP00000349206:W384C	ENSP00000337897:G422V|ENSP00000349206:W384C	G|W	+|+	2|3	0|0	PPP1R12B|PPP1R12B	200673582|200673582	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.660000|0.660000	0.38997|0.38997	4.556000|4.556000	0.60775|0.60775	2.686000|2.686000	0.91538|0.91538	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.413	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		T	202406959	G	T	202406959	3	4	131	1	0	0	0	0	1	0	0	0	12358	1212	42	3	1303	3	PPP1R12B	1	202406959	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	41364407	202406959	46843662	7	7145											
IARS2	55699	genome.wustl.edu	37	1	220311385	220311385	+	Splice_Site	SNP	G	G	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr1:220311385G>C	ENST00000302637.5	+	17	2279	c.2175G>C	c.(2173-2175)aaG>aaC	p.K725N	snoU13_ENST00000459443.1_RNA|IARS2_ENST00000366922.1_Splice_Site_p.K653N	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	725					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.K725N(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATATTAGCAAGGTTAGAACTA	0.388																																																1	Substitution - Missense(1)	ovary(1)	1											115	106	109					1																	220311385		2203	4300	6503	218378008	SO:0001630	splice_region_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2175+1G>C	1.37:g.220311385G>C			218378008	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388512	0.82902	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.18657	2.2;2.2	5.64	5.64	0.86602	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.044197	0.85682	D	0.000000	T	0.54224	0.1845	M	0.92880	3.355	0.80722	D	1	D	0.64830	0.994	P	0.59357	0.856	T	0.65010	-0.6272	10	0.87932	D	0	-16.819	18.2441	0.89979	0.0:0.0:1.0:0.0	.	725	Q9NSE4	SYIM_HUMAN	N	653;725	ENSP00000355889:K653N;ENSP00000303279:K725N	ENSP00000303279:K725N	K	+	3	2	IARS2	218378008	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	8.969000	0.93411	2.817000	0.96982	0.557000	0.71058	AAG		0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	Missense_Mutation	C	220311385	G	C	220311385	5	2	131	1	0	0	0	0	0	0	1	0	7474	1014	35	3	2241	3	IARS2	1	220311385	Splice_Site	SNP	G	TCGA-13-1483-01A-01W-0549-09	17904426	220311385	28939236	8	7146											
MYT1L	23040	genome.wustl.edu	37	2	1921010	1921010	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr2:1921010C>G	ENST00000399161.2	-	11	2332	c.1585G>C	c.(1585-1587)Gga>Cga	p.G529R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G527R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	529					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G529R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGCGGGCATCCGGACAGGCTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											188	198	195					2																	1921010		2032	4191	6223	1900017	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1585G>C	2.37:g.1921010C>G	ENSP00000382114:p.Gly529Arg		1900017	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	34	5.329642	0.95733	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.64618	-0.05;-0.11	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85949	0.1463	10	0.87932	D	0	-31.232	19.8984	0.96975	0.0:1.0:0.0:0.0	.	529;527	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	R	529;475;527	ENSP00000382114:G529R;ENSP00000396103:G527R	ENSP00000295067:G475R	G	-	1	0	MYT1L	1900017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.713000	0.92767	0.655000	0.94253	GGA		0.567	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		G	1921010	C	G	1921010	3	3	131	1	0	0	0	0	1	0	0	0	10107	661	23	3	2035	3	MYT1L	2	1921010	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09		1921010	241278363	9	7147											
ZNF638	27332	genome.wustl.edu	37	2	71577133	71577133	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr2:71577133G>A	ENST00000409544.1	+	2	1679	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q	ZNF638_ENST00000264447.4_Missense_Mutation_p.R350Q|ZNF638_ENST00000377802.2_Missense_Mutation_p.R350Q|ZNF638_ENST00000355812.3_Missense_Mutation_p.R350Q|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	350					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R350Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAGCAAGAGCGGATCCCACAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											127	125	126					2																	71577133		2203	4300	6503	71430641	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1049G>A	2.37:g.71577133G>A	ENSP00000386433:p.Arg350Gln		71430641	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794284	0.50102	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.76316	-0.41;-1.01;0.14;-0.4;1.12;1.12	5.88	5.01	0.66863	.	0.171583	0.48767	N	0.000161	T	0.78457	0.4286	N	0.24115	0.695	0.28746	N	0.901724	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.77557	0.975;0.975;0.99;0.978;0.975	T	0.71899	-0.4453	10	0.34782	T	0.22	-2.9758	10.8697	0.46877	0.0862:0.0:0.9138:0.0	.	456;350;350;350;350	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	Q	350;456;350;350;350;350	ENSP00000386669:R350Q;ENSP00000438189:R456Q;ENSP00000348066:R350Q;ENSP00000367033:R350Q;ENSP00000264447:R350Q;ENSP00000386433:R350Q	ENSP00000264447:R350Q	R	+	2	0	ZNF638	71430641	0.661000	0.27430	0.643000	0.29450	0.683000	0.39861	1.989000	0.40707	1.490000	0.48466	0.655000	0.94253	CGG		0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71577133	G	A	71577133	3	1	131	1	0	0	0	0	1	0	0	0	18055	1116	39	1	1051	1	ZNF638	2	71577133	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	69656123	71577133	171622240	10	7148											
IL1F6	27179	genome.wustl.edu	37	2	113765446	113765446	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr2:113765446C>T	ENST00000259211.6	+	4	713	c.302C>T	c.(301-303)cCt>cTt	p.P101L		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	101					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)	p.P101L(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CAACCCGAGCCTGTGAAGTCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	2											128	123	124					2																	113765446		1925	4134	6059	113481917	SO:0001583	missense	27179			AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"Interleukins and interleukin receptors"	15562	protein-coding gene	gene with protein product		605509	"interleukin 1 family, member 6 (epsilon)"	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.302C>T	2.37:g.113765446C>T	ENSP00000259211:p.Pro101Leu		113481917	B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396788	0.62177	.	.	ENSG00000136694	ENST00000259211	T	0.16324	2.35	4.78	2.89	0.33648	.	0.426875	0.19699	N	0.108092	T	0.25082	0.0609	L	0.46741	1.465	0.09310	N	1	D	0.58970	0.984	P	0.58873	0.847	T	0.05209	-1.0899	10	0.32370	T	0.25	-28.5125	7.7434	0.28853	0.1849:0.6365:0.1786:0.0	.	101	Q9UHA7	IL36A_HUMAN	L	101	ENSP00000259211:P101L	ENSP00000259211:P101L	P	+	2	0	IL36A	113481917	0.003000	0.15002	0.001000	0.08648	0.421000	0.31385	1.125000	0.31332	0.530000	0.28619	0.591000	0.81541	CCT		0.478	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440		T	113765446	C	T	113765446	3	4	131	1	0	0	0	0	1	0	0	0	7654	681	24	2	316	2	IL1F6	2	113765446	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09	42188313	113765446	129433927	11	7149											
DARS	1615	genome.wustl.edu	37	2	136741009	136741009	+	Silent	SNP	T	T	G			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr2:136741009T>G	ENST00000264161.4	-	2	297	c.82A>C	c.(82-84)Aga>Cga	p.R28R	DARS_ENST00000463008.1_5'Flank|AC093391.2_ENST00000438432.1_RNA|DARS_ENST00000537273.1_Intron|AC093391.2_ENST00000446492.1_RNA|AC093391.2_ENST00000444406.1_RNA|AC093391.2_ENST00000419808.1_RNA	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	28					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R28R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATTCCATATCTCTCTTTAGCA	0.294																																																1	Substitution - coding silent(1)	ovary(1)	2											75	72	73					2																	136741009		2200	4292	6492	136457479	SO:0001819	synonymous_variant	1615			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.82A>C	2.37:g.136741009T>G			136457479	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	CCDS2180.1																																																																																				0.294	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		G	136741009	T	G	136741009	2	3	131	1	0	0	0	0	0	0	0	1	4241	1559	54	5		5	DARS	2	136741009	Silent	SNP	T	TCGA-13-1483-01A-01W-0549-09	22975563	136741009	106458364	12	7150											
P4HTM	54681	genome.wustl.edu	37	3	49042491	49042491	+	Intron	SNP	C	C	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr3:49042491C>A	ENST00000383729.4	+	6	1444				WDR6_ENST00000395474.3_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.P362H|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000415265.2_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CAAGTATCTCCCAACTGGGGG	0.607																																																0			3											109	87	95					3																	49042491		2203	4300	6503	49017495	SO:0001627	intron_variant	54681				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1073+12C>A	3.37:g.49042491C>A			49017495	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364190	0.61513	.	.	ENSG00000178467	ENST00000343546	.	.	.	5.0	0.835	0.18886	.	0.665977	0.12480	N	0.465259	T	0.29288	0.0729	.	.	.	0.09310	N	1	P	0.37276	0.589	B	0.43331	0.416	T	0.18209	-1.0344	7	.	.	.	.	4.9365	0.13943	0.0:0.4996:0.147:0.3534	.	362	Q9NXG6-3	.	H	362	.	.	P	+	2	0	P4HTM	49017495	0.000000	0.05858	0.162000	0.22713	0.380000	0.30137	-0.002000	0.12924	0.139000	0.18822	0.655000	0.94253	CCC		0.607	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		A	49042491	C	A	49042491	1	1	131	0	1	0	0	0	0	0	0	0	11360	623	22	3		3	P4HTM	3	49042491	Intron	SNP	C	TCGA-13-1483-01A-01W-0549-09		49042491	148979939	13	7151											
LRIG1	26018	genome.wustl.edu	37	3	66436454	66436454	+	Silent	SNP	G	G	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr3:66436454G>A	ENST00000273261.3	-	13	2264	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	LRIG1_ENST00000383703.3_Silent_p.T604T|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	580	Ig-like C2-type 1.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.T580T(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CAAAGTGGTTGGTGATGACAC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	3											209	157	174					3																	66436454		2203	4300	6503	66519144	SO:0001819	synonymous_variant	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1740C>T	3.37:g.66436454G>A			66519144	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	CCDS33783.1																																																																																				0.532	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		A	66436454	G	A	66436454	2	1	131	1	0	0	0	0	0	0	0	1	8944	1335	47	2		2	LRIG1	3	66436454	Silent	SNP	G	TCGA-13-1483-01A-01W-0549-09	17393963	66436454	131585976	14	7152											
PLA1A	51365	genome.wustl.edu	37	3	119343985	119343985	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr3:119343985G>T	ENST00000273371.4	+	9	1099	c.1027G>T	c.(1027-1029)Gtg>Ttg	p.V343L	PLA1A_ENST00000488919.1_Missense_Mutation_p.V170L|PLA1A_ENST00000495992.1_Missense_Mutation_p.V327L|PLA1A_ENST00000494440.1_Missense_Mutation_p.V327L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	343					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)	p.V343L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCACAGCCTCGTGGAGTTTCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											167	131	143					3																	119343985		2203	4300	6503	120826675	SO:0001583	missense	51365			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.1027G>T	3.37:g.119343985G>T	ENSP00000273371:p.Val343Leu		120826675	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632844	0.47049	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.94376	-2.81;-3.41;-2.79;-2.89	4.56	4.56	0.56223	.	0.189093	0.45361	D	0.000373	D	0.90017	0.6883	L	0.36672	1.1	0.40099	D	0.97634	P;B	0.36086	0.536;0.401	B;B	0.38842	0.283;0.147	D	0.89205	0.3560	10	0.32370	T	0.25	-12.6915	15.6546	0.77124	0.0:0.0:1.0:0.0	.	327;343	Q53H76-3;Q53H76	.;PLA1A_HUMAN	L	343;170;327;327	ENSP00000273371:V343L;ENSP00000420625:V170L;ENSP00000417326:V327L;ENSP00000418793:V327L	ENSP00000273371:V343L	V	+	1	0	PLA1A	120826675	0.999000	0.42202	0.996000	0.52242	0.970000	0.65996	3.256000	0.51492	2.545000	0.85829	0.655000	0.94253	GTG		0.493	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			T	119343985	G	T	119343985	3	4	131	1	0	0	0	0	1	0	0	0	11988	1145	40	3	1061	3	PLA1A	3	119343985	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	52907531	119343985	78678445	15	7153											
ZBBX	79740	genome.wustl.edu	37	3	167016234	167016240	+	Frame_Shift_Del	DEL	TTTCTTG	TTTCTTG	-			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	TTTCTTG	TTTCTTG	TTTCTTG	-	TTTCTTG	TTTCTTG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr3:167016234_167016240delTTTCTTG	ENST00000392766.2	-	18	2072_2078	c.1732_1738delCAAGAAA	c.(1732-1740)caagaaatafs	p.QEI578fs	ZBBX_ENST00000455345.2_Frame_Shift_Del_p.QEI578fs|ZBBX_ENST00000392767.2_Frame_Shift_Del_p.QEI578fs|ZBBX_ENST00000307529.5_Frame_Shift_Del_p.QEI578fs|ZBBX_ENST00000392764.1_Frame_Shift_Del_p.QEI549fs	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	578						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q578L(2)|p.Q578fs*1(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGCAGGCTATTTCTTGTAACAACTAA	0.295																																																4	Substitution - Missense(2)|Deletion - Frameshift(2)	ovary(2)|lung(2)	3																																								168498934	SO:0001589	frameshift_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1732_1738delCAAGAAA	3.37:g.167016234_167016240delTTTCTTG	ENSP00000376519:p.Gln578fs		168498928	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Frame_Shift_Del	DEL	ENST00000392766.2	37	CCDS3199.2																																																																																				0.295	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		-	167016240	TTTCTTG	-	167016234	7	5	131	1	0	1	0	1	0	0	0	0	17516	1493	52	0	680	0	ZBBX	3	167016234	Frame_Shift_Del	DEL	TTTCTTG	TCGA-13-1483-01A-01W-0549-09	47672249	167016234	31006196	16	7154											
PDGFRA	5156	genome.wustl.edu	37	4	55127387	55127387	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr4:55127387T>A	ENST00000257290.5	+	3	506	c.175T>A	c.(175-177)Tac>Aac	p.Y59N	PDGFRA_ENST00000508170.1_Missense_Mutation_p.Y59N|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	59	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y59N(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAGCTGGCAGTACCCCATGTC	0.463			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - Missense(1)	ovary(1)	4											104	114	110					4																	55127387		2203	4300	6503	54822144	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.175T>A	4.37:g.55127387T>A	ENSP00000257290:p.Tyr59Asn		54822144	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829549	0.32329	.	.	ENSG00000134853	ENST00000257290;ENST00000508170;ENST00000512143;ENST00000503856;ENST00000504461;ENST00000512522	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	5.97	3.58	0.41010	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.295501	0.18361	U	0.143577	T	0.23410	0.0566	L	0.53249	1.67	0.35901	D	0.830427	B;B	0.16166	0.0;0.016	B;B	0.11329	0.002;0.006	T	0.10428	-1.0630	10	0.42905	T	0.14	.	8.1103	0.30911	0.0:0.2907:0.0:0.7093	.	59;59	P16234;P16234-2	PGFRA_HUMAN;.	N	59;59;84;59;59;59	ENSP00000257290:Y59N;ENSP00000425648:Y59N;ENSP00000425626:Y84N;ENSP00000425902:Y59N;ENSP00000426472:Y59N;ENSP00000425232:Y59N	ENSP00000257290:Y59N	Y	+	1	0	PDGFRA	54822144	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.389000	0.34453	0.531000	0.28639	0.482000	0.46254	TAC		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		A	55127387	T	A	55127387	3	1	131	1	0	0	0	0	1	0	0	0	11661	1638	57	5	181	5	PDGFRA	4	55127387	Missense_Mutation	SNP	T	TCGA-13-1483-01A-01W-0549-09		55127387	136026889	17	7155											
KDR	3791	genome.wustl.edu	37	4	55971144	55971144	+	Silent	SNP	A	A	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr4:55971144A>T	ENST00000263923.4	-	13	1948	c.1653T>A	c.(1651-1653)ccT>ccA	p.P551P		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	551	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P551P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGTAATTTCAGGACCCCCTA	0.443			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - coding silent(1)	ovary(1)	4											54	51	52					4																	55971144		2203	4300	6503	55665901	SO:0001819	synonymous_variant	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1653T>A	4.37:g.55971144A>T			55665901	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	CCDS3497.1																																																																																				0.443	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55971144	A	T	55971144	2	4	131	1	0	0	0	0	0	0	0	1	8139	175	7	5		5	KDR	4	55971144	Silent	SNP	A	TCGA-13-1483-01A-01W-0549-09	843757	55971144	135183132	18	7156											
USP38	84640	genome.wustl.edu	37	4	144135702	144135702	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr4:144135702A>G	ENST00000307017.4	+	9	3079	c.2573A>G	c.(2572-2574)tAc>tGc	p.Y858C	USP38_ENST00000510377.1_Missense_Mutation_p.Y858C	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	858	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.Y858C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					AGTGGGCATTACTATTCTTAT	0.438																																																1	Substitution - Missense(1)	ovary(1)	4											95	88	90					4																	144135702		2203	4300	6503	144355152	SO:0001583	missense	84640			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2573A>G	4.37:g.144135702A>G	ENSP00000303434:p.Tyr858Cys		144355152	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628820	0.67015	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	D;D	0.92446	-3.04;-3.04	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99293	1.0899	10	0.87932	D	0	-4.8064	15.8623	0.79035	1.0:0.0:0.0:0.0	.	858;858	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	C	858	ENSP00000427647:Y858C;ENSP00000303434:Y858C	ENSP00000303434:Y858C	Y	+	2	0	USP38	144355152	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.056000	0.93881	2.205000	0.71048	0.482000	0.46254	TAC		0.438	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		G	144135702	A	G	144135702	3	3	131	1	0	0	0	0	1	0	0	0	17069	391	14	4	2607	4	USP38	4	144135702	Missense_Mutation	SNP	A	TCGA-13-1483-01A-01W-0549-09	88164558	144135702	47018574	19	7157											
CDH12	1010	genome.wustl.edu	37	5	21752321	21752321	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr5:21752321A>T	ENST00000382254.1	-	15	2996	c.1910T>A	c.(1909-1911)cTg>cAg	p.L637Q	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.L637Q|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.L597Q	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	637					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L637Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTGCCTTCGCAGTGCTACATA	0.393										HNSCC(59;0.17)																																						1	Substitution - Missense(1)	ovary(1)	5											77	76	76					5																	21752321		2203	4300	6503	21788078	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1910T>A	5.37:g.21752321A>T	ENSP00000371689:p.Leu637Gln		21788078	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048677	0.55110	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60424	0.22;0.22;0.19	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.81614	2.55	0.58432	D	0.999991	P;D	0.71674	0.762;0.998	B;D	0.81914	0.411;0.995	T	0.80498	-0.1356	10	0.66056	D	0.02	.	15.4877	0.75578	1.0:0.0:0.0:0.0	.	597;637	B7Z2U6;P55289	.;CAD12_HUMAN	Q	637;637;597	ENSP00000423577:L637Q;ENSP00000371689:L637Q;ENSP00000428786:L597Q	ENSP00000371689:L637Q	L	-	2	0	CDH12	21788078	0.991000	0.36638	0.633000	0.29310	0.538000	0.34931	8.962000	0.93254	2.072000	0.62099	0.482000	0.46254	CTG		0.393	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		T	21752321	A	T	21752321	3	4	131	1	0	0	0	0	1	0	0	0	3098	188	7	5	478	5	CDH12	5	21752321	Missense_Mutation	SNP	A	TCGA-13-1483-01A-01W-0549-09		21752321	159162939	20	7158											
FBN2	2201	genome.wustl.edu	37	5	127854986	127854986	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr5:127854986G>T	ENST00000508053.1	-	11	1582	c.608C>A	c.(607-609)aCt>aAt	p.T203N	FBN2_ENST00000262464.4_Missense_Mutation_p.T203N|FBN2_ENST00000508989.1_Missense_Mutation_p.T170N			P35556	FBN2_HUMAN	fibrillin 2	203	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T203N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGTGGACCAGTGAACCCATA	0.378																																																1	Substitution - Missense(1)	ovary(1)	5											80	77	78					5																	127854986		2203	4300	6503	127882885	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.608C>A	5.37:g.127854986G>T	ENSP00000424571:p.Thr203Asn		127882885	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333888	0.81801	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.92397	-3.03;-3.03;-3.03;-1.14	5.17	5.17	0.71159	Matrix fibril-associated (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.96470	0.8848	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	D;D;D;D	0.85130	0.997;0.997;0.987;0.987	D	0.96149	0.9106	10	0.54805	T	0.06	.	18.8636	0.92282	0.0:0.0:1.0:0.0	.	170;203;170;203	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	N	203;203;170;203	ENSP00000262464:T203N;ENSP00000424571:T203N;ENSP00000425596:T170N;ENSP00000424753:T203N	ENSP00000262464:T203N	T	-	2	0	FBN2	127882885	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.474000	0.97718	2.861000	0.98227	0.655000	0.94253	ACT		0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127854986	G	T	127854986	3	4	131	1	0	0	0	0	1	0	0	0	5703	1029	36	3	8374	3	FBN2	5	127854986	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	106102665	127854986	53060274	21	7159											
RANBP17	64901	genome.wustl.edu	37	5	170341194	170341194	+	Missense_Mutation	SNP	G	G	C	rs183823072		TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr5:170341194G>C	ENST00000523189.1	+	8	948	c.784G>C	c.(784-786)Gat>Cat	p.D262H		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	262					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.D262H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAAACATTGGATCTTTTCTT	0.299			T	TRD@	ALL																																		Dom	yes		5	5q34	64901	RAN binding protein 17		L	1	Substitution - Missense(1)	ovary(1)	5											81	84	83					5																	170341194		2201	4293	6494	170273772	SO:0001583	missense	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.784G>C	5.37:g.170341194G>C	ENSP00000427975:p.Asp262His		170273772	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.55|14.55	2.568453|2.568453	0.45798|0.45798	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000523189;ENST00000545246|ENST00000522734	T|.	0.68479|.	-0.33|.	5.33|5.33	4.46|4.46	0.54185|0.54185	Armadillo-type fold (1);|.	0.198836|.	0.35870|.	N|.	0.002936|.	T|T	0.53769|0.53769	0.1817|0.1817	L|L	0.40543|0.40543	1.245|1.245	0.41484|0.41484	D|D	0.988188|0.988188	B|.	0.12630|.	0.006|.	B|.	0.12837|.	0.008|.	T|T	0.50775|0.50775	-0.8788|-0.8788	10|5	0.48119|.	T|.	0.1|.	-7.5372|-7.5372	9.5148|9.5148	0.39098|0.39098	0.0763:0.1428:0.7809:0.0|0.0763:0.1428:0.7809:0.0	.|.	262|.	Q9H2T7|.	RBP17_HUMAN|.	H|A	262;158|44	ENSP00000427975:D262H|.	ENSP00000373770:D262H|.	D|G	+|+	1|2	0|0	RANBP17|RANBP17	170273772|170273772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.990000|4.990000	0.63876|0.63876	1.383000|1.383000	0.46405|0.46405	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.299	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		C	170341194	G	C	170341194	3	2	131	1	0	0	0	0	1	0	0	0	13030	1174	41	3	814	3	RANBP17	5	170341194	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	42486208	170341194	10574066	22	7160											
GPR115	221393	genome.wustl.edu	37	6	47682171	47682171	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr6:47682171C>T	ENST00000283303.2	+	6	1448	c.1190C>T	c.(1189-1191)aCc>aTc	p.T397I	GPR115_ENST00000371220.1_Missense_Mutation_p.T454I|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.T397I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	397					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T397I(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAATCGATGACCGACAAAGTT	0.478																																					GBM(22;431 510 9010 26644 32828)											1	Substitution - Missense(1)	ovary(1)	6											155	119	131					6																	47682171		2203	4300	6503	47790130	SO:0001583	missense	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1190C>T	6.37:g.47682171C>T	ENSP00000283303:p.Thr397Ile		47790130	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	2.065	-0.414522	0.04766	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.36878	1.23;1.23;1.23	5.26	-2.64	0.06114	.	2.053540	0.01487	N	0.016923	T	0.08133	0.0203	L	0.27053	0.805	0.09310	N	1	B	0.20459	0.045	B	0.18263	0.021	T	0.21930	-1.0231	10	0.46703	T	0.11	0.862	0.9009	0.01273	0.3701:0.1502:0.2886:0.1911	.	397	Q8IZF3	GP115_HUMAN	I	454;397;397	ENSP00000360264:T454I;ENSP00000328319:T397I;ENSP00000283303:T397I	ENSP00000283303:T397I	T	+	2	0	GPR115	47790130	0.001000	0.12720	0.000000	0.03702	0.045000	0.14185	0.802000	0.27069	-0.113000	0.11958	0.655000	0.94253	ACC		0.478	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		T	47682171	C	T	47682171	3	4	131	1	0	0	0	0	1	0	0	0	6632	507	18	2	1208	2	GPR115	6	47682171	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09		47682171	123432896	23	7161											
LATS1	9113	genome.wustl.edu	37	6	150004708	150004708	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr6:150004708G>C	ENST00000543571.1	-	4	2064	c.1517C>G	c.(1516-1518)cCa>cGa	p.P506R	LATS1_ENST00000253339.5_Missense_Mutation_p.P506R|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.P506R	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.P506R(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTGTAGCTCTGGTTTTAATAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	6											135	139	137					6																	150004708		2203	4300	6503	150046401	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1517C>G	6.37:g.150004708G>C	ENSP00000437550:p.Pro506Arg		150046401		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815854	0.70912	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.58060	0.36;0.36;2.85	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000019	T	0.68256	0.2981	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.91635	0.98;0.999;0.98	T	0.65520	-0.6148	9	.	.	.	.	19.8134	0.96556	0.0:0.0:1.0:0.0	.	358;506;506	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	R	506	ENSP00000437550:P506R;ENSP00000253339:P506R;ENSP00000444678:P506R	.	P	-	2	0	LATS1	150046401	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.767000	0.95098	0.655000	0.94253	CCA		0.453	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		C	150004708	G	C	150004708	3	2	131	1	0	0	0	0	1	0	0	0	8646	1348	47	3	1895	3	LATS1	6	150004708	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	102322537	150004708	21110359	24	7162											
PCMT1	5110	genome.wustl.edu	37	6	150092350	150092350	+	Silent	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr6:150092350C>T	ENST00000367380.5	+	2	315	c.108C>T	c.(106-108)gaC>gaT	p.D36D	PCMT1_ENST00000367378.1_Silent_p.D94D|PCMT1_ENST00000464889.1_Silent_p.D94D|PCMT1_ENST00000367384.2_Silent_p.D94D|PCMT1_ENST00000544496.1_Intron	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	36					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.D36D(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TGGCTACAGACCGCTCCCACT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	6											100	95	96					6																	150092350		2203	4300	6503	150134043	SO:0001819	synonymous_variant	5110				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.108C>T	6.37:g.150092350C>T			150134043	A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Silent	SNP	ENST00000367380.5	37																																																																																					0.348	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	150092350	C	T	150092350	2	4	131	1	0	0	0	0	0	0	0	1	11585	506	18	2		2	PCMT1	6	150092350	Silent	SNP	C	TCGA-13-1483-01A-01W-0549-09	87642	150092350	21022717	25	7163											
IYD	389434	genome.wustl.edu	37	6	150710532	150710532	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr6:150710532C>A	ENST00000344419.3	+	2	363	c.223C>A	c.(223-225)Ccc>Acc	p.P75T	IYD_ENST00000500320.3_Missense_Mutation_p.P75T|IYD_ENST00000392256.2_Missense_Mutation_p.P75T|IYD_ENST00000229447.5_Missense_Mutation_p.P75T|IYD_ENST00000392255.3_Missense_Mutation_p.P75T|IYD_ENST00000425615.3_Missense_Mutation_p.P20T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	75					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.P75T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGAACACATCCCCTTCTCTCA	0.373																																																1	Substitution - Missense(1)	ovary(1)	6											85	81	83					6																	150710532		2203	4300	6503	150752225	SO:0001583	missense	389434			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.223C>A	6.37:g.150710532C>A	ENSP00000343763:p.Pro75Thr		150752225	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587909	0.46110	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	D;T;D;D;D;D	0.90620	-2.62;-0.99;-2.57;-2.7;-2.61;-2.31	5.4	4.53	0.55603	.	0.112873	0.64402	D	0.000009	D	0.89701	0.6791	M	0.71581	2.175	0.58432	D	0.999997	P;B;P	0.44986	0.847;0.428;0.625	P;B;B	0.47118	0.538;0.126;0.259	D	0.90644	0.4577	10	0.59425	D	0.04	-3.6699	16.3215	0.82952	0.0:0.8677:0.1323:0.0	.	75;75;75	C9JFW2;Q6PHW0-3;Q6PHW0	.;.;IYD1_HUMAN	T	75;75;75;75;75;20	ENSP00000229447:P75T;ENSP00000343763:P75T;ENSP00000376085:P75T;ENSP00000376084:P75T;ENSP00000441276:P75T;ENSP00000390081:P20T	ENSP00000229447:P75T	P	+	1	0	IYD	150752225	0.998000	0.40836	0.176000	0.23000	0.026000	0.11368	4.061000	0.57485	1.504000	0.48704	0.555000	0.69702	CCC		0.373	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		A	150710532	C	A	150710532	3	1	131	1	0	0	0	0	1	0	0	0	7932	623	22	3	229	3	IYD	6	150710532	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09	618182	150710532	20404535	26	7164											
PRKRIP1	79706	genome.wustl.edu	37	7	102040048	102040048	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr7:102040048C>T	ENST00000496391.1	+	7	1569	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	PRKRIP1_ENST00000462601.1_Missense_Mutation_p.R30W|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.R87W|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.R49W|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	87	Required for RNA-binding. {ECO:0000250}.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.R87W(1)		endometrium(1)|lung(4)|ovary(1)	6						ACATCTGCGCCGGAGAGAATA	0.542																																																1	Substitution - Missense(1)	ovary(1)	7											113	107	109					7																	102040048		2203	4300	6503	101827053	SO:0001583	missense	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"Zinc fingers, C2H2-type", "-"	21894	protein-coding gene	gene with protein product	"likely ortholog of mouse C114 dsRNA-binding protein", "KRAB box domain containing 3"					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.259C>T	7.37:g.102040048C>T	ENSP00000419270:p.Arg87Trp		101827053	B4DGM2|Q8NDM6|Q96CF8	Missense_Mutation	SNP	ENST00000496391.1	37	CCDS34714.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.307976	0.81247	.	.	ENSG00000128563	ENST00000496391;ENST00000462601;ENST00000397912;ENST00000354783	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	6.13	3.31	0.37934	.	0.050417	0.85682	D	0.000000	T	0.75583	0.3869	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.991;0.983;0.997	T	0.75277	-0.3374	10	0.72032	D	0.01	-18.6997	8.4346	0.32780	0.2766:0.6513:0.0:0.0721	.	49;30;87	B4DGM2;E9PC43;Q9H875	.;.;PKRI1_HUMAN	W	87;30;87;49	ENSP00000419270:R87W;ENSP00000420136:R30W;ENSP00000381010:R87W;ENSP00000346837:R49W	ENSP00000346837:R49W	R	+	1	2	PRKRIP1	101827053	0.997000	0.39634	0.892000	0.35008	0.996000	0.88848	3.795000	0.55499	0.448000	0.26722	-0.194000	0.12790	CGG		0.542	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349489.1	NM_024653		T	102040048	C	T	102040048	3	4	131	1	0	0	0	0	1	0	0	0	12528	643	23	1	269	1	PRKRIP1	7	102040048	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09		102040048	57098615	27	7165											
WNT16	51384	genome.wustl.edu	37	7	120979118	120979118	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr7:120979118delG	ENST00000222462.2	+	4	1107	c.817delG	c.(817-819)gatfs	p.D273fs	WNT16_ENST00000361301.2_Frame_Shift_Del_p.D263fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	273					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.D273fs*23(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GAGAGAAAAAGATCAGAGGAA	0.373																																																1	Deletion - Frameshift(1)	ovary(1)	7											96	95	95					7																	120979118		2203	4300	6503	120766354	SO:0001589	frameshift_variant	51384			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.817delG	7.37:g.120979118delG	ENSP00000222462:p.Asp273fs		120766354	Q2M3G1|Q9Y5C0	Frame_Shift_Del	DEL	ENST00000222462.2	37	CCDS5781.1																																																																																				0.373	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		-	120979118	G	-	120979118	7	5	131	1	0	1	0	1	0	0	0	0	17385	942	33	0	900	0	WNT16	7	120979118	Frame_Shift_Del	DEL	G	TCGA-13-1483-01A-01W-0549-09	18939070	120979118	38159545	28	7166											
PRUNE2	158471	genome.wustl.edu	37	9	79322617	79322617	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr9:79322617C>G	ENST00000376718.3	-	8	4696	c.4573G>C	c.(4573-4575)Gcc>Ccc	p.A1525P	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1166P	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1525					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.A1525P(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACGAACCGGCTCCTGGAAGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	9											54	50	51					9																	79322617		1568	3582	5150	78512437	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4573G>C	9.37:g.79322617C>G	ENSP00000365908:p.Ala1525Pro		78512437	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.15|15.15	2.747724|2.747724	0.49257|0.49257	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.48201|.	0.82;0.82|.	5.08|5.08	3.21|3.21	0.36854|0.36854	.|.	1.425270|.	0.04362|.	N|.	0.357615|.	T|T	0.39886|0.39886	0.1095|0.1095	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999996|0.999996	P|.	0.37955|.	0.612|.	B|.	0.34722|.	0.188|.	T|T	0.25882|0.25882	-1.0119|-1.0119	10|5	0.44086|.	T|.	0.13|.	-1.076|-1.076	6.1684|6.1684	0.20404|0.20404	0.1513:0.6926:0.0:0.1561|0.1513:0.6926:0.0:0.1561	.|.	1525|.	Q8WUY3|.	PRUN2_HUMAN|.	P|T	1525;1166;1524|846	ENSP00000365908:A1525P;ENSP00000397425:A1166P|.	ENSP00000365908:A1525P|.	A|S	-|-	1|2	0|0	PRUNE2|PRUNE2	78512437|78512437	0.077000|0.077000	0.21312|0.21312	0.003000|0.003000	0.11579|0.11579	0.010000|0.010000	0.07245|0.07245	0.830000|0.830000	0.27462|0.27462	0.808000|0.808000	0.34231|0.34231	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.433	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		G	79322617	C	G	79322617	3	3	131	1	0	0	0	0	1	0	0	0	12644	797	28	3	4741	3	PRUNE2	9	79322617	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09		79322617	61890814	29	7167											
PTCH1	5727	genome.wustl.edu	37	9	98278988	98278988	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	G	C	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr9:98278988C>G	ENST00000375274.2	-	1	259	c.115G>C	c.(115-117)Gac>Cac	p.D39H	PTCH1_ENST00000430669.2_5'UTR|PTCH1_ENST00000468211.2_5'UTR|PTCH1_ENST00000437951.1_5'UTR|RP11-435O5.4_ENST00000604650.1_RNA			Q13635	PTC1_HUMAN	patched 1	0					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.D39H(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				cctcctccgtcttTACAAAAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	9											117	117	117					9																	98278988		1816	4069	5885	97318809	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000375274.2:c.115G>C	9.37:g.98278988C>G	ENSP00000364423:p.Asp39His		97318809	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000375274.2	37	CCDS47995.1	.	.	.	.	.	.	.	.	.	.	c	14.40	2.524678	0.44969	.	.	ENSG00000185920	ENST00000375274	D	0.90385	-2.66	3.11	3.11	0.35812	.	.	.	.	.	D	0.86100	0.5852	.	.	.	0.80722	D	1	B	0.25955	0.138	B	0.17979	0.02	D	0.85522	0.1204	8	0.62326	D	0.03	.	13.2852	0.60239	0.0:1.0:0.0:0.0	.	39	Q13635-2	.	H	39	ENSP00000364423:D39H	ENSP00000364423:D39H	D	-	1	0	PTCH1	97318809	0.379000	0.25123	0.997000	0.53966	0.981000	0.71138	0.458000	0.21892	1.749000	0.51849	0.479000	0.44913	GAC		0.557	PTCH1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406923.1	NM_000264		G	98278988	C	G	98278988	3	3	131	1	0	0	0	0	1	0	0	0	12733	913	32	3	4529	3	PTCH1	9	98278988	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09	18956371	98278988	42934443	30	7168											
ZNF462	58499	genome.wustl.edu	37	9	109689721	109689721	+	Silent	SNP	G	G	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr9:109689721G>A	ENST00000277225.5	+	3	3817	c.3528G>A	c.(3526-3528)ctG>ctA	p.L1176L	ZNF462_ENST00000441147.2_Silent_p.L21L|ZNF462_ENST00000457913.1_Silent_p.L1176L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1176					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1176L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TACAACAGCTGAACCGAAGCA	0.572																																																1	Substitution - coding silent(1)	ovary(1)	9											121	129	127					9																	109689721		2203	4300	6503	108729542	SO:0001819	synonymous_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3528G>A	9.37:g.109689721G>A			108729542	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.572	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		A	109689721	G	A	109689721	2	1	131	1	0	0	0	0	0	0	0	1	17926	1277	45	2		2	ZNF462	9	109689721	Silent	SNP	G	TCGA-13-1483-01A-01W-0549-09	11410733	109689721	31523710	31	7169											
ARMC4	55130	genome.wustl.edu	37	10	28228876	28228876	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr10:28228876T>A	ENST00000305242.5	-	14	2139	c.2047A>T	c.(2047-2049)Aat>Tat	p.N683Y	ARMC4_ENST00000537576.1_Missense_Mutation_p.N375Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.N208Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	683					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.N683Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTCTCACTATTTAGGTTCTTG	0.443																																																1	Substitution - Missense(1)	ovary(1)	10											108	98	102					10																	28228876		2203	4300	6503	28268882	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2047A>T	10.37:g.28228876T>A	ENSP00000306410:p.Asn683Tyr		28268882	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298683	0.40694	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.93906	-3.31;-3.31;-3.31	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.331477	0.43260	D	0.000593	D	0.92616	0.7654	L	0.40543	1.245	0.80722	D	1	B;B	0.30482	0.232;0.281	B;B	0.42495	0.145;0.389	D	0.92141	0.5720	10	0.72032	D	0.01	-22.0273	14.94	0.70986	0.0:0.0:0.0:1.0	.	208;683	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	Y	375;683;208	ENSP00000443208:N375Y;ENSP00000306410:N683Y;ENSP00000441076:N208Y	ENSP00000306410:N683Y	N	-	1	0	ARMC4	28268882	0.857000	0.29778	0.007000	0.13788	0.009000	0.06853	6.444000	0.73452	2.266000	0.75297	0.533000	0.62120	AAT		0.443	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		A	28228876	T	A	28228876	3	1	131	1	0	0	0	0	1	0	0	0	953	1841	64	5	1115	5	ARMC4	10	28228876	Missense_Mutation	SNP	T	TCGA-13-1483-01A-01W-0549-09		28228876	107305871	32	7170											
CTNNA3	29119	genome.wustl.edu	37	10	68940273	68940273	+	Silent	SNP	T	T	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr10:68940273T>C	ENST00000433211.2	-	7	1023	c.849A>G	c.(847-849)ttA>ttG	p.L283L	CTNNA3_ENST00000545309.1_Silent_p.L283L|CTNNA3_ENST00000373744.4_Silent_p.L283L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.L283L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCAGGACAATTAAATTCTAAG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	10											91	88	89					10																	68940273		2203	4300	6503	68610279	SO:0001819	synonymous_variant	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.849A>G	10.37:g.68940273T>C			68610279		Silent	SNP	ENST00000433211.2	37	CCDS7269.1																																																																																				0.383	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		C	68940273	T	C	68940273	2	2	131	1	0	0	0	0	0	0	0	1	4014	1751	61	4		4	CTNNA3	10	68940273	Silent	SNP	T	TCGA-13-1483-01A-01W-0549-09	40711397	68940273	66594474	33	7171											
OR52E4	390081	genome.wustl.edu	37	11	5905526	5905526	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr11:5905526C>T	ENST00000316987.2	+	1	26	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P2S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGAGAATGCCTTCTATCAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											143	141	142					11																	5905526		2201	4296	6497	5862102	SO:0001583	missense	390081			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.4C>T	11.37:g.5905526C>T	ENSP00000321426:p.Pro2Ser		5862102	Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	2.105	-0.405242	0.04832	.	.	ENSG00000180974	ENST00000316987	T	0.38240	1.15	5.15	-5.08	0.02929	.	0.608360	0.14518	N	0.314625	T	0.07098	0.0180	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40608	-0.9554	10	0.18710	T	0.47	.	7.4129	0.27027	0.1371:0.2191:0.0:0.6439	.	2	Q8NGH9	O52E4_HUMAN	S	2	ENSP00000321426:P2S	ENSP00000321426:P2S	P	+	1	0	OR52E4	5862102	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.664000	0.01966	-0.871000	0.04042	-0.366000	0.07423	CCT		0.423	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		T	5905526	C	T	5905526	3	4	131	1	0	0	0	0	1	0	0	0	11116	739	26	2	6	2	OR52E4	11	5905526	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09		5905526	129100990	34	7172											
NLRP14	338323	genome.wustl.edu	37	11	7064352	7064352	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr11:7064352G>A	ENST00000299481.4	+	4	1441	c.1095G>A	c.(1093-1095)atG>atA	p.M365I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	365	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.M365I(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGTTTAGCATGTGCCAAGTCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											131	130	130					11																	7064352		2201	4296	6497	7020928	SO:0001583	missense	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1095G>A	11.37:g.7064352G>A	ENSP00000299481:p.Met365Ile		7020928	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	9.073	0.997285	0.19043	.	.	ENSG00000158077	ENST00000299481	D	0.85258	-1.96	4.51	3.6	0.41247	NACHT nucleoside triphosphatase (1);	0.317503	0.27691	N	0.018254	T	0.77731	0.4174	L	0.50333	1.59	0.35865	D	0.827807	B	0.12630	0.006	B	0.13407	0.009	T	0.73338	-0.4014	10	0.27082	T	0.32	.	6.5217	0.22279	0.0985:0.1829:0.7186:0.0	.	365	Q86W24	NAL14_HUMAN	I	365	ENSP00000299481:M365I	ENSP00000299481:M365I	M	+	3	0	NLRP14	7020928	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	2.090000	0.41682	1.272000	0.44329	-0.140000	0.14226	ATG		0.458	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		A	7064352	G	A	7064352	3	1	131	1	0	0	0	0	1	0	0	0	10476	1377	48	2	1105	2	NLRP14	11	7064352	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	1158826	7064352	127942164	35	7173											
DBX1	120237	genome.wustl.edu	37	11	20181507	20181507	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr11:20181507T>C	ENST00000524983.2	-	1	652	c.364A>G	c.(364-366)Aca>Gca	p.T122A	DBX1_ENST00000227256.3_Missense_Mutation_p.T122A			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	122					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T122A(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CGCTTACCTGTTCTGGGCCCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											35	36	35					11																	20181507		2203	4300	6503	20138083	SO:0001583	missense	120237					11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.364A>G	11.37:g.20181507T>C	ENSP00000436881:p.Thr122Ala		20138083		Missense_Mutation	SNP	ENST00000524983.2	37		.	.	.	.	.	.	.	.	.	.	T	9.288	1.049907	0.19827	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.90676	-2.71;0.26	5.61	0.654	0.17833	.	0.471455	0.23023	N	0.052824	T	0.77691	0.4168	N	0.16478	0.41	0.22226	N	0.999278	B	0.06786	0.001	B	0.09377	0.004	T	0.58994	-0.7537	10	0.06099	T	0.92	.	9.8933	0.41302	0.0:0.3721:0.0:0.6279	.	122	F8W811	.	A	122	ENSP00000436881:T122A;ENSP00000227256:T122A	ENSP00000227256:T122A	T	-	1	0	DBX1	20138083	1.000000	0.71417	0.984000	0.44739	0.911000	0.54048	1.591000	0.36665	0.102000	0.17638	0.398000	0.26397	ACA		0.632	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		C	20181507	T	C	20181507	3	2	131	1	0	0	0	0	1	0	0	0	4259	1725	60	4	800	4	DBX1	11	20181507	Missense_Mutation	SNP	T	TCGA-13-1483-01A-01W-0549-09	13117155	20181507	114825009	36	7174											
CTNND1	1500	genome.wustl.edu	37	11	57573404	57573404	+	Silent	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr11:57573404C>T	ENST00000399050.4	+	10	2309	c.1773C>T	c.(1771-1773)caC>caT	p.H591H	CTNND1_ENST00000360682.6_Silent_p.H591H|CTNND1_ENST00000529919.1_Silent_p.H591H|CTNND1_ENST00000526772.1_Silent_p.H268H|CTNND1_ENST00000529986.1_Silent_p.H490H|CTNND1_ENST00000428599.2_Silent_p.H591H|CTNND1_ENST00000528621.1_Silent_p.H537H|CTNND1_ENST00000361332.4_Silent_p.H591H|CTNND1_ENST00000526938.1_Silent_p.H591H|CTNND1_ENST00000399039.4_Silent_p.H591H|CTNND1_ENST00000531014.1_Silent_p.H268H|CTNND1_ENST00000525902.1_Silent_p.H268H|CTNND1_ENST00000532844.1_Silent_p.H537H|CTNND1_ENST00000528232.1_Silent_p.H490H|CTNND1_ENST00000529873.1_Silent_p.H537H|CTNND1_ENST00000532463.1_Silent_p.H490H|CTNND1_ENST00000527467.1_Silent_p.H268H|CTNND1_ENST00000530748.1_Silent_p.H537H|CTNND1_ENST00000361391.6_Silent_p.H591H|CTNND1_ENST00000533667.1_Silent_p.H268H|CTNND1_ENST00000532245.1_Silent_p.H490H|CTNND1_ENST00000426142.2_Silent_p.H490H|CTNND1_ENST00000529526.1_Silent_p.H537H|CTNND1_ENST00000530094.1_Silent_p.H490H|CTNND1_ENST00000415361.2_Silent_p.H490H|CTNND1_ENST00000532787.1_Silent_p.H490H|CTNND1_ENST00000358694.6_Silent_p.H591H|CTNND1_ENST00000361796.4_Silent_p.H591H|CTNND1_ENST00000524630.1_Silent_p.H591H|CTNND1_ENST00000534579.1_Silent_p.H537H|CTNND1_ENST00000532649.1_Silent_p.H537H|CTNND1_ENST00000526357.1_Silent_p.H537H	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	591					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.H591H(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATCAAGTTCACCGGGAGATCC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	11											82	79	80					11																	57573404		1920	4127	6047	57329980	SO:0001819	synonymous_variant	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1773C>T	11.37:g.57573404C>T			57329980	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	CCDS44604.1																																																																																				0.473	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		T	57573404	C	T	57573404	2	4	131	1	0	0	0	0	0	0	0	1	4019	506	18	2		2	CTNND1	11	57573404	Silent	SNP	C	TCGA-13-1483-01A-01W-0549-09	37391897	57573404	77433112	37	7175											
PVRL1	5818	genome.wustl.edu	37	11	119545333	119545333	+	Intron	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr11:119545333C>T	ENST00000264025.3	-	5	1534				PVRL1_ENST00000524510.1_5'Flank|PVRL1_ENST00000341398.2_Intron|PVRL1_ENST00000340882.2_Missense_Mutation_p.G343D	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCCTTTGCCCGGATAGAT	0.527																																																0			11											295	272	280					11																	119545333		2199	4295	6494	119050543	SO:0001627	intron_variant	5818			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1003+535G>A	11.37:g.119545333C>T			119050543	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284089	0.23392	.	.	ENSG00000110400	ENST00000340882	T	0.74526	-0.85	3.76	2.85	0.33270	.	.	.	.	.	T	0.57446	0.2054	.	.	.	0.09310	N	1	P	0.38167	0.621	B	0.39904	0.313	T	0.43147	-0.9409	8	0.12430	T	0.62	.	7.1703	0.25715	0.0:0.8793:0.0:0.1207	.	343	Q15223-3	.	D	343	ENSP00000345289:G343D	ENSP00000345289:G343D	G	-	2	0	PVRL1	119050543	0.000000	0.05858	0.030000	0.17652	0.274000	0.26718	-0.362000	0.07602	1.184000	0.42957	0.655000	0.94253	GGC		0.527	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			T	119545333	C	T	119545333	1	4	131	0	1	0	0	0	0	0	0	0	12842	739	26	2		2	PVRL1	11	119545333	Intron	SNP	C	TCGA-13-1483-01A-01W-0549-09	61971929	119545333	15461183	38	7176											
C12orf41	54934	genome.wustl.edu	37	12	49065713	49065713	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr12:49065713G>A	ENST00000420613.2	-	5	625	c.578C>T	c.(577-579)gCc>gTc	p.A193V	KANSL2_ENST00000550347.1_Missense_Mutation_p.A376V|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000553086.1_Missense_Mutation_p.A193V	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	193					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.A193V(1)									CATAATCAGGGCCACTTCTTC	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											95	91	92					12																	49065713		1885	4109	5994	47351980	SO:0001583	missense	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.578C>T	12.37:g.49065713G>A	ENSP00000415436:p.Ala193Val		47351980	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399719	0.42512	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550931	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	6.05	6.05	0.98169	.	0.049866	0.85682	D	0.000000	T	0.77212	0.4097	N	0.10760	0.04	0.80722	D	1	D;B	0.65815	0.995;0.217	P;B	0.56163	0.793;0.055	T	0.78109	-0.2332	10	0.34782	T	0.22	-23.3112	19.3727	0.94495	0.0:0.0:1.0:0.0	.	376;193	F8VX10;Q9H9L4	.;CL041_HUMAN	V	376;193;193;130	ENSP00000449747:A376V;ENSP00000415436:A193V;ENSP00000448833:A193V;ENSP00000448129:A130V	ENSP00000415436:A193V	A	-	2	0	C12orf41	47351980	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.682000	0.98655	2.878000	0.98634	0.650000	0.86243	GCC		0.383	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		A	49065713	G	A	49065713	3	1	131	1	0	0	0	0	1	0	0	0	1687	1203	42	2	924	2	C12orf41	12	49065713	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09		49065713	84786182	39	7177											
SERPINE3	647174	genome.wustl.edu	37	13	51921247	51921247	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr13:51921247T>A	ENST00000521255.1	+	3	637	c.577T>A	c.(577-579)Tcc>Acc	p.S193T	MIR5693_ENST00000577722.1_RNA|SERPINE3_ENST00000400389.4_Missense_Mutation_p.S193T|SERPINE3_ENST00000524365.1_Missense_Mutation_p.S193T	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	193					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S193T(1)		ovary(2)	2						GAGCACCATGTCCTTCCAAGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	13											116	113	114					13																	51921247		2083	4218	6301	50819248	SO:0001583	missense	647174			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.577T>A	13.37:g.51921247T>A	ENSP00000428316:p.Ser193Thr		50819248	B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	T	1.659	-0.511984	0.04200	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	D;D;D	0.84223	-1.82;-1.82;-1.82	4.36	-1.84	0.07809	Serpin domain (3);	1.285740	0.05798	N	0.611746	T	0.75488	0.3856	N	0.20685	0.6	0.25535	N	0.987233	B;B	0.22080	0.051;0.064	B;B	0.19391	0.015;0.025	T	0.62627	-0.6814	10	0.72032	D	0.01	.	10.25	0.43364	0.6199:0.0:0.0:0.38	.	193;193	A8MV23-2;A8MV23	.;SERP3_HUMAN	T	193	ENSP00000430755:S193T;ENSP00000428316:S193T;ENSP00000441468:S193T	ENSP00000441468:S193T	S	+	1	0	SERPINE3	50819248	0.998000	0.40836	0.971000	0.41717	0.846000	0.48090	1.355000	0.34068	-0.462000	0.06984	-0.336000	0.08194	TCC		0.582	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		A	51921247	T	A	51921247	3	1	131	1	0	0	0	0	1	0	0	0	14116	1667	58	5	587	5	SERPINE3	13	51921247	Missense_Mutation	SNP	T	TCGA-13-1483-01A-01W-0549-09		51921247	63248631	40	7178											
MYCBP2	23077	genome.wustl.edu	37	13	77638760	77638760	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr13:77638760G>C	ENST00000544440.2	-	73	12565	c.12548C>G	c.(12547-12549)gCa>gGa	p.A4183G	MYCBP2_ENST00000407578.2_Missense_Mutation_p.A4221G|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A4183G					MYC binding protein 2, E3 ubiquitin protein ligase									p.A4183G(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTAGTTGTTGCAATACATCT	0.338																																																1	Substitution - Missense(1)	ovary(1)	13											128	114	119					13																	77638760		2202	4300	6502	76536761	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12548C>G	13.37:g.77638760G>C	ENSP00000444596:p.Ala4183Gly		76536761		Missense_Mutation	SNP	ENST00000544440.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.089859|4.089859	0.76756|0.76756	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.27890|.	1.64;1.64;1.64|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48607|0.48607	0.1509|0.1509	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.46656|.	0.882|.	B|.	0.41236|.	0.351|.	T|T	0.42327|0.42327	-0.9458|-0.9458	10|5	0.49607|.	T|.	0.09|.	.|.	20.3539|20.3539	0.98825|0.98825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4183|.	O75592|.	MYCB2_HUMAN|.	G|W	4183;4221;4183|603	ENSP00000349892:A4183G;ENSP00000384288:A4221G;ENSP00000444596:A4183G|.	ENSP00000349892:A4183G|.	A|C	-|-	2|3	0|2	MYCBP2|MYCBP2	76536761|76536761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.863000|7.863000	0.87023|0.87023	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.338	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		C	77638760	G	C	77638760	3	2	131	1	0	0	0	0	1	0	0	0	10018	1319	46	3	1418	3	MYCBP2	13	77638760	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	25717513	77638760	37531118	41	7179											
CYFIP1	23191	genome.wustl.edu	37	15	22929772	22929772	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr15:22929772G>A	ENST00000313077.7	+	6	571	c.446G>A	c.(445-447)aGg>aAg	p.R149K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.R149K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.R149K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCCGAGAGGAGGAAGGACTTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	15											126	106	113					15																	22929772		2203	4300	6503	20481213	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.446G>A	15.37:g.22929772G>A	ENSP00000324549:p.Arg149Lys		20481213		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251139	0.59212	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.42513	0.97	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	L	0.37850	1.14	0.80722	D	1	P;B	0.50156	0.932;0.0	P;B	0.60012	0.867;0.001	T	0.30909	-0.9962	10	0.16420	T	0.52	-14.8972	18.4773	0.90798	0.0:0.0:1.0:0.0	.	177;149	E7EQ04;Q7L576	.;CYFP1_HUMAN	K	149;177	ENSP00000324549:R149K	ENSP00000324549:R149K	R	+	2	0	CYFIP1	20481213	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	9.658000	0.98594	2.439000	0.82584	0.561000	0.74099	AGG		0.542	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		A	22929772	G	A	22929772	3	1	131	1	0	0	0	0	1	0	0	0	4137	1000	35	2	464	2	CYFIP1	15	22929772	Missense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09		22929772	79601620	42	7180											
NTRK3	4916	genome.wustl.edu	37	15	88522597	88522597	+	Intron	SNP	G	G	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr15:88522597G>A	ENST00000360948.2	-	14	1747				NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000540489.2_Silent_p.S606S|NTRK3_ENST00000317501.3_Silent_p.S606S|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000357724.2_Intron	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACGTCCTTTGCTGAAATAAA	0.433			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0			15											125	122	123					15																	88522597		2201	4299	6500	86323601	SO:0001627	intron_variant	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1586-38613C>T	15.37:g.88522597G>A			86323601	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																				0.433	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88522597	G	A	88522597	1	1	131	0	1	0	0	0	0	0	0	0	10708	1310	46	2		2	NTRK3	15	88522597	Intron	SNP	G	TCGA-13-1483-01A-01W-0549-09	65592825	88522597	14008795	43	7181											
ZNF500	26048	genome.wustl.edu	37	16	4812610	4812610	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr16:4812610T>A	ENST00000219478.6	-	3	861	c.562A>T	c.(562-564)Agg>Tgg	p.R188W	ZNF500_ENST00000545009.1_Missense_Mutation_p.R188W			O60304	ZN500_HUMAN	zinc finger protein 500	188					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.R188W(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTCTGTGGCCTGTGGCTCAGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											67	79	75					16																	4812610		2197	4300	6497	4752611	SO:0001583	missense	26048			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.562A>T	16.37:g.4812610T>A	ENSP00000219478:p.Arg188Trp		4752611	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271113	0.40194	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07114	3.3;3.22	3.22	0.862	0.19056	.	0.882541	0.09247	N	0.828458	T	0.09024	0.0223	N	0.19112	0.55	0.09310	N	1	D;D	0.58620	0.983;0.983	P;P	0.53062	0.632;0.717	T	0.36114	-0.9761	10	0.37606	T	0.19	.	5.8052	0.18436	0.0:0.376:0.0:0.624	.	188;188	B4DNN9;O60304	.;ZN500_HUMAN	W	188	ENSP00000445714:R188W;ENSP00000219478:R188W	ENSP00000219478:R188W	R	-	1	2	ZNF500	4752611	0.001000	0.12720	0.085000	0.20634	0.005000	0.04900	0.068000	0.14531	0.044000	0.15775	-0.290000	0.09829	AGG		0.612	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		A	4812610	T	A	4812610	3	1	131	1	0	0	0	0	1	0	0	0	17948	1579	55	5	896	5	ZNF500	16	4812610	Missense_Mutation	SNP	T	TCGA-13-1483-01A-01W-0549-09		4812610	85542143	44	7182											
GRIN2A	2903	genome.wustl.edu	37	16	9857785	9857785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr16:9857785G>A	ENST00000396573.2	-	14	3925	c.3616C>T	c.(3616-3618)Cga>Tga	p.R1206*	GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.R1206*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.R1206*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.R1049*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.R1206*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.R1206*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1206					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1206*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCCGGTATCGCTCGCTGGTC	0.537																																																1	Substitution - Nonsense(1)	ovary(1)	16											302	292	295					16																	9857785		2197	4300	6497	9765286	SO:0001587	stop_gained	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3616C>T	16.37:g.9857785G>A	ENSP00000379818:p.Arg1206*		9765286	O00669|Q17RZ6	Nonsense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	38	6.803450	0.97849	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	.	.	.	5.09	4.04	0.47022	.	0.207437	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1281	0.53928	0.0:0.0:0.7252:0.2748	.	.	.	.	X	1206;1206;1049;1206;1206	.	.	R	-	1	2	GRIN2A	9765286	1.000000	0.71417	0.901000	0.35422	0.318000	0.28184	3.767000	0.55288	2.362000	0.80069	0.655000	0.94253	CGA		0.537	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9857785	G	A	9857785	4	1	131	1	0	0	0	0	0	1	0	0	6779	1095	38	1	782	1	GRIN2A	16	9857785	Nonsense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09	5045175	9857785	80496968	45	7183											
GRIN2A	2903	genome.wustl.edu	37	16	9892135	9892135	+	Splice_Site	SNP	A	A	G			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr16:9892135A>G	ENST00000396573.2	-	12	2664	c.2355T>C	c.(2353-2355)gaT>gaC	p.D785D	GRIN2A_ENST00000396575.2_Splice_Site_p.D785D|GRIN2A_ENST00000562109.1_Splice_Site_p.D785D|GRIN2A_ENST00000535259.1_Splice_Site_p.D628D|GRIN2A_ENST00000404927.2_Splice_Site_p.D785D|GRIN2A_ENST00000330684.3_Splice_Site_p.D785D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	785					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.D785D(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGTCTTACCATCACCCACAA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	16											74	57	63					16																	9892135		2197	4300	6497	9799636	SO:0001630	splice_region_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2356+1T>C	16.37:g.9892135A>G			9799636	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																				0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		Silent	G	9892135	A	G	9892135	5	3	131	1	0	0	0	0	0	0	1	0	6779	231	8	4	2051	4	GRIN2A	16	9892135	Splice_Site	SNP	A	TCGA-13-1483-01A-01W-0549-09	34350	9892135	80462618	46	7184											
METTL9	51108	genome.wustl.edu	37	16	21629218	21629218	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr16:21629218C>T	ENST00000358154.3	+	3	647	c.389C>T	c.(388-390)tCa>tTa	p.S130L	METTL9_ENST00000396014.4_Missense_Mutation_p.S130L	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	130								p.S130L(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		TTTGTGTTTTCACCAGATCAG	0.393																																																1	Substitution - Missense(1)	ovary(1)	16											160	153	155					16																	21629218		2199	4300	6499	21536719	SO:0001583	missense	51108			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.389C>T	16.37:g.21629218C>T	ENSP00000350874:p.Ser130Leu		21536719	Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	C	35	5.568837	0.96540	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83820	0.5337	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.79784	0.985;0.993	D	0.84829	0.0801	9	0.87932	D	0	-7.7649	18.3732	0.90420	0.0:1.0:0.0:0.0	.	130;130	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	L	130;130;94	.	ENSP00000350874:S130L	S	+	2	0	METTL9	21536719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.531000	0.81973	2.941000	0.99782	0.655000	0.94253	TCA		0.393	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		T	21629218	C	T	21629218	3	4	131	1	0	0	0	0	1	0	0	0	9508	838	29	2	399	2	METTL9	16	21629218	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09	11737083	21629218	68725535	47	7185											
TNRC6A	27327	genome.wustl.edu	37	16	24801413	24801413	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr16:24801413C>T	ENST00000395799.3	+	6	1579	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R484C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	484	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R484C(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGGGGCCTGGCGTGTGAGCAC	0.468																																																1	Substitution - Missense(1)	ovary(1)	16											72	67	69					16																	24801413		2197	4300	6497	24708914	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1450C>T	16.37:g.24801413C>T	ENSP00000379144:p.Arg484Cys		24708914	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	13.08	2.128876	0.37533	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12361	2.69;2.7	5.79	5.79	0.91817	.	0.126285	0.56097	D	0.000036	T	0.18923	0.0454	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.998;0.986;0.999	P;P;P	0.53649	0.731;0.648;0.676	T	0.00277	-1.1854	10	0.42905	T	0.14	-6.8485	11.3282	0.49460	0.1412:0.7227:0.1361:0.0	.	231;484;484	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	C	484	ENSP00000326900:R484C;ENSP00000379144:R484C	ENSP00000326900:R484C	R	+	1	0	TNRC6A	24708914	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.912000	0.56386	2.735000	0.93741	0.563000	0.77884	CGT		0.468	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		T	24801413	C	T	24801413	3	4	131	1	0	0	0	0	1	0	0	0	16340	768	27	1	1472	1	TNRC6A	16	24801413	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09	3172195	24801413	65553340	48	7186											
TP53	7157	genome.wustl.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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"	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	17	GRCh37	CM971506	TP53	M	rs121913344						120	106	110					17																	7577022		2203	4300	6503	7517747	SO:0001587	stop_gained	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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		7517747	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577022	G	A	7577022	4	1	131	1	0	0	0	0	0	1	0	0	16381	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-13-1483-01A-01W-0549-09		7577022	73618188	49	7187											
NF1	4763	genome.wustl.edu	37	17	29497010	29497010	+	Missense_Mutation	SNP	T	T	C	rs199474753		TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr17:29497010T>C	ENST00000358273.4	+	5	964	c.581T>C	c.(580-582)cTg>cCg	p.L194P	NF1_ENST00000356175.3_Missense_Mutation_p.L194P|NF1_ENST00000431387.4_Missense_Mutation_p.L194P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	194			L -> R (in NFNS; dbSNP:rs199474753). {ECO:0000269|PubMed:16380919}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L194P(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACGACTCCTGAAGGGTAAG	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|ovary(1)	17	GRCh37	CM054014	NF1	M							63	63	63					17																	29497010		2203	4298	6501	26521136	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.581T>C	17.37:g.29497010T>C	ENSP00000351015:p.Leu194Pro		26521136	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217150	0.79352	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	D;D;D	0.81739	-1.53;-1.53;-1.53	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	D	0.89319	0.6681	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.999;0.997	D;D;D;D	0.91635	0.994;0.999;0.998;0.994	D	0.90579	0.4528	10	0.87932	D	0	.	15.7643	0.78114	0.0:0.0:0.0:1.0	.	194;194;194;194	P21359-2;P21359;Q14931;P21359-3	.;NF1_HUMAN;.;.	P	194	ENSP00000412921:L194P;ENSP00000351015:L194P;ENSP00000348498:L194P	ENSP00000348498:L194P	L	+	2	0	NF1	26521136	1.000000	0.71417	0.990000	0.47175	0.861000	0.49209	6.977000	0.76141	2.145000	0.66743	0.482000	0.46254	CTG		0.289	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29497010	T	C	29497010	3	2	131	1	0	0	0	0	1	0	0	0	10356	1580	55	4	599	4	NF1	17	29497010	Missense_Mutation	SNP	T	TCGA-13-1483-01A-01W-0549-09	21919988	29497010	51698200	50	7188											
ANKFN1	162282	genome.wustl.edu	37	17	54558087	54558087	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr17:54558087C>A	ENST00000318698.2	+	16	2043	c.2008C>A	c.(2008-2010)Cat>Aat	p.H670N	ANKFN1_ENST00000566473.2_Missense_Mutation_p.H670N	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	670								p.H670N(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGTGTGGATCATACTTCTGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	17											183	172	176					17																	54558087		2203	4300	6503	51913086	SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2008C>A	17.37:g.54558087C>A	ENSP00000321627:p.His670Asn		51913086		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700243	0.30142	.	.	ENSG00000153930	ENST00000318698	T	0.21734	1.99	5.47	5.47	0.80525	.	0.337163	0.36591	N	0.002511	T	0.10937	0.0267	N	0.02916	-0.46	0.47476	D	0.999431	B	0.11235	0.004	B	0.04013	0.001	T	0.23797	-1.0178	10	0.17369	T	0.5	-12.2055	19.3291	0.94278	0.0:1.0:0.0:0.0	.	670	Q8N957	ANKF1_HUMAN	N	670	ENSP00000321627:H670N	ENSP00000321627:H670N	H	+	1	0	ANKFN1	51913086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.414000	0.59802	2.553000	0.86117	0.655000	0.94253	CAT		0.408	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		A	54558087	C	A	54558087	3	1	131	1	0	0	0	0	1	0	0	0	625	826	29	3	2070	3	ANKFN1	17	54558087	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09	25061077	54558087	26637123	51	7189											
ECSIT	51295	genome.wustl.edu	37	19	11618353	11618353	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr19:11618353A>G	ENST00000270517.7	-	7	1105	c.970T>C	c.(970-972)Tgg>Cgg	p.W324R	ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000417981.2_Missense_Mutation_p.W110R|ECSIT_ENST00000592312.1_Silent_p.S254S|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000588998.1_Missense_Mutation_p.V60A|ECSIT_ENST00000591104.1_Silent_p.S283S|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000252440.7_Missense_Mutation_p.V274A|CTC-398G3.6_ENST00000585656.1_5'Flank	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	324					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.W324R(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TAGAGGTTCCACTCCTCCGGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											110	95	100					19																	11618353		2203	4300	6503	11479353	SO:0001583	missense	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.970T>C	19.37:g.11618353A>G	ENSP00000270517:p.Trp324Arg		11479353	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	CCDS12262.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.61|11.61	1.691274|1.691274	0.30052|0.30052	.|.	.|.	ENSG00000130159|ENSG00000130159	ENST00000252440|ENST00000270517;ENST00000417981	.|T;T	.|0.39592	.|1.07;1.07	4.77|4.77	3.72|3.72	0.42706|0.42706	.|.	.|0.307616	.|0.28754	.|N	.|0.014246	T|T	0.19287|0.19287	0.0463|0.0463	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|B;B	0.17667|0.13145	0.023|0.007;0.0	B|B;B	0.15484|0.12156	0.013|0.007;0.0	T|T	0.07424|0.07424	-1.0773|-1.0773	7|9	0.05833|0.07482	T|T	0.94|0.82	-17.2071|-17.2071	7.1179|7.1179	0.25427|0.25427	0.5746:0.0:0.0:0.4254|0.5746:0.0:0.0:0.4254	.|.	274|110;324	Q9BQ95-2|E9PAN9;Q9BQ95	.|.;ECSIT_HUMAN	A|R	274|324;110	.|ENSP00000270517:W324R;ENSP00000412712:W110R	ENSP00000252440:V274A|ENSP00000270517:W324R	V|W	-|-	2|1	0|0	ECSIT|ECSIT	11479353|11479353	0.995000|0.995000	0.38212|0.38212	0.995000|0.995000	0.50966|0.50966	0.278000|0.278000	0.26855|0.26855	0.822000|0.822000	0.27352|0.27352	1.771000|1.771000	0.52183|0.52183	0.402000|0.402000	0.26972|0.26972	GTG|TGG		0.587	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		G	11618353	A	G	11618353	3	3	131	1	0	0	0	0	1	0	0	0	4900	159	6	4	333	4	ECSIT	19	11618353	Missense_Mutation	SNP	A	TCGA-13-1483-01A-01W-0549-09		11618353	47510630	52	7190											
LGALS14	56891	genome.wustl.edu	37	19	40199901	40199901	+	Missense_Mutation	SNP	T	T	C	rs148265523	byFrequency	TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr19:40199901T>C	ENST00000392052.3	+	4	591	c.368T>C	c.(367-369)aTg>aCg	p.M123T	LGALS14_ENST00000360675.3_Missense_Mutation_p.M152T	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	123	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.M152T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TCTGTGAAGATGCTGCAAGTC	0.463													T|||	14	0.00279553	0.0106	0	5008	,	,		22626	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19						T	THR/MET,THR/MET	32,4374		0,32,2171	100	94	96		368,455	0.9	0	19	dbSNP_134	96	0,8600		0,0,4300	yes	missense,missense	LGALS14	NM_020129.2,NM_203471.1	81,81	0,32,6471	CC,CT,TT		0.0,0.7263,0.246	possibly-damaging,possibly-damaging	123/140,152/169	40199901	32,12974	2203	4300	6503	44891741	SO:0001583	missense	56891			AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"Lectins, galactoside-binding"	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.368T>C	19.37:g.40199901T>C	ENSP00000375905:p.Met123Thr		44891741	A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	CCDS46073.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	.	0.415	-0.911218	0.02434	0.007263	0.0	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.15603	2.41;2.41	0.902	0.902	0.19290	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.12347	0.0300	L	0.31926	0.97	0.09310	N	1	D;D	0.54397	0.966;0.966	P;P	0.56343	0.796;0.796	T	0.17167	-1.0378	9	0.15952	T	0.53	.	4.0373	0.09735	0.0:0.0:0.0:1.0	.	123;152	Q8TCE9;A8MPV8	PPL13_HUMAN;.	T	123;152	ENSP00000375905:M123T;ENSP00000353893:M152T	ENSP00000353893:M152T	M	+	2	0	LGALS14	44891741	0.023000	0.18921	0.003000	0.11579	0.017000	0.09413	0.248000	0.18198	0.653000	0.30826	0.260000	0.18958	ATG		0.463	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		C	40199901	T	C	40199901	3	2	131	1	0	0	0	0	1	0	0	0	8741	1464	51	4	488	4	LGALS14	19	40199901	Missense_Mutation	SNP	T	TCGA-13-1483-01A-01W-0549-09	28581548	40199901	18929082	53	7191											
CIC	23152	genome.wustl.edu	37	19	42795131	42795131	+	Silent	SNP	C	C	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr19:42795131C>A	ENST00000575354.2	+	10	2251	c.2211C>A	c.(2209-2211)gcC>gcA	p.A737A	CIC_ENST00000160740.3_Silent_p.A737A|CIC_ENST00000572681.2_Silent_p.A1646A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	737	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A737A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGCAGCAGCCACCTCACCAG	0.647			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Substitution - coding silent(1)	ovary(1)	19											29	31	30					19																	42795131		2202	4300	6502	47486971	SO:0001819	synonymous_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2211C>A	19.37:g.42795131C>A			47486971	Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	CCDS12601.1																																																																																				0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			A	42795131	C	A	42795131	2	1	131	1	0	0	0	0	0	0	0	1	3424	581	21	3		3	CIC	19	42795131	Silent	SNP	C	TCGA-13-1483-01A-01W-0549-09	2595230	42795131	16333852	54	7192											
SYT3	84258	genome.wustl.edu	37	19	51135640	51135640	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chr19:51135640C>T	ENST00000338916.4	-	2	1210	c.577G>A	c.(577-579)Gga>Aga	p.G193R	SYT3_ENST00000600079.1_Missense_Mutation_p.G193R|SYT3_ENST00000544769.1_Missense_Mutation_p.G193R|SYT3_ENST00000593901.1_Missense_Mutation_p.G193R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	193					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.G193R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGCCTGCTCCCCCCTCAGAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											39	42	41					19																	51135640		2203	4300	6503	55827452	SO:0001583	missense	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.577G>A	19.37:g.51135640C>T	ENSP00000340914:p.Gly193Arg		55827452	Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	C	5.014	0.188313	0.09547	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.57595	0.39;0.39	5.24	3.07	0.35406	.	0.377447	0.20698	U	0.087331	T	0.25568	0.0622	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.12091	-1.0561	10	0.51188	T	0.08	.	6.1149	0.20122	0.0:0.6612:0.1594:0.1794	.	193	Q9BQG1	SYT3_HUMAN	R	193	ENSP00000340914:G193R;ENSP00000438883:G193R	ENSP00000340914:G193R	G	-	1	0	SYT3	55827452	0.031000	0.19500	0.012000	0.15200	0.524000	0.34500	0.930000	0.28858	1.331000	0.45412	0.655000	0.94253	GGA		0.642	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		T	51135640	C	T	51135640	3	4	131	1	0	0	0	0	1	0	0	0	15475	632	22	2	1223	2	SYT3	19	51135640	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09	8340509	51135640	7993343	55	7193											
FAM47C	442444	genome.wustl.edu	37	X	37027377	37027377	+	Silent	SNP	T	T	C			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chrX:37027377T>C	ENST00000358047.3	+	1	946	c.894T>C	c.(892-894)ccT>ccC	p.P298P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	298								p.P298P(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCGGGAGCCTCCTGAGACTG	0.597																																																1	Substitution - coding silent(1)	ovary(1)	X											79	69	72					X																	37027377		2202	4300	6502	36937298	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.894T>C	X.37:g.37027377T>C			36937298	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				0.597	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		C	37027377	T	C	37027377	2	2	131	1	0	0	0	0	0	0	0	1	5571	1538	54	4		4	FAM47C	23	37027377	Silent	SNP	T	TCGA-13-1483-01A-01W-0549-09		37027377	118243183	56	7194											
KIAA2022	340533	genome.wustl.edu	37	X	73963680	73963680	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1483-01A-01W-0549-09	TCGA-13-1483-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52280c07-44f5-4e9c-8601-7455b5b0de7a	ba1a9d8f-4747-4b5c-849b-324359c06465	g.chrX:73963680C>A	ENST00000055682.6	-	3	1323	c.712G>T	c.(712-714)Gca>Tca	p.A238S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	238					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.A238S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AACAGTAATGCCTCATAATAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	X											163	150	155					X																	73963680		2203	4299	6502	73880405	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.712G>T	X.37:g.73963680C>A	ENSP00000055682:p.Ala238Ser		73880405	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446016	0.25987	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	5.97	4.21	0.49690	.	0.165665	0.53938	D	0.000054	T	0.18882	0.0453	N	0.14661	0.345	0.30893	N	0.730162	B	0.24823	0.112	B	0.23852	0.049	T	0.09037	-1.0693	10	0.35671	T	0.21	-1.9497	11.8929	0.52638	0.0:0.856:0.0:0.144	.	238	Q5QGS0	K2022_HUMAN	S	238	ENSP00000362567:A238S;ENSP00000055682:A238S	ENSP00000055682:A238S	A	-	1	0	KIAA2022	73880405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.656000	0.61483	0.651000	0.30788	0.600000	0.82982	GCA		0.433	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		A	73963680	C	A	73963680	3	1	131	1	0	0	0	0	1	0	0	0	8269	739	26	3	3846	3	KIAA2022	23	73963680	Missense_Mutation	SNP	C	TCGA-13-1483-01A-01W-0549-09	36936303	73963680	81306880	57	7195											
PLCH2	9651	broad.mit.edu	37	1	2420688	2420688	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr1:2420688C>G	ENST00000419816.2	+	9	1552	c.1278C>G	c.(1276-1278)atC>atG	p.I426M	PLCH2_ENST00000449969.1_Missense_Mutation_p.I399M|PLCH2_ENST00000378486.3_Missense_Mutation_p.I426M|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.I426M			O75038	PLCH2_HUMAN	phospholipase C, eta 2	426	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.I273M(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCAGTGTCATCCAGCAGAAGA	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											186	184	185					1																	2420688		2079	4213	6292	2410548	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1278C>G	1.37:g.2420688C>G	ENSP00000389803:p.Ile426Met		2410548	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.	.	.	.	.	.	.	.	.	.	C	13.17	2.157220	0.38119	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.62941	-0.01;-0.01;-0.01	5.25	-0.715	0.11215	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	1.258880	0.05139	N	0.493813	T	0.51075	0.1653	L	0.34521	1.04	0.80722	D	1	P;P;P;P	0.41710	0.76;0.76;0.704;0.76	P;P;B;P	0.45474	0.482;0.482;0.286;0.482	T	0.54497	-0.8285	10	0.30854	T	0.27	.	1.7164	0.02902	0.1275:0.1905:0.3602:0.3218	.	273;214;399;426	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	M	399;426;426;273;214	ENSP00000397289:I399M;ENSP00000367747:I426M;ENSP00000367749:I426M	ENSP00000278878:I214M	I	+	3	3	PLCH2	2410548	0.003000	0.15002	0.332000	0.25469	0.966000	0.64601	-0.005000	0.12855	0.194000	0.20326	-0.258000	0.10820	ATC		0.557	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		G	2420688	C	G	2420688	3	3	132	1	0	0	0	0	1	0	0	0	12038	845	30	3	1312	3	PLCH2	1	2420688	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08		2420688	246829933	1	7196											
CRNN	49860	broad.mit.edu	37	1	152382720	152382720	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr1:152382720G>T	ENST00000271835.3	-	3	900	c.838C>A	c.(838-840)Cag>Aag	p.Q280K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	280	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.Q280K(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCACAGCCTGGCTGGTCTGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											272	268	269					1																	152382720		2203	4300	6503	150649344	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.838C>A	1.37:g.152382720G>T	ENSP00000271835:p.Gln280Lys		150649344	B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456867	0.63401	.	.	ENSG00000143536	ENST00000271835	T	0.04454	3.62	4.83	3.87	0.44632	.	0.128385	0.36002	N	0.002858	T	0.06917	0.0176	L	0.46157	1.445	0.09310	N	0.999996	D	0.71674	0.998	D	0.79108	0.992	T	0.10683	-1.0619	10	0.48119	T	0.1	.	10.142	0.42740	0.0:0.2205:0.7795:0.0	.	280	Q9UBG3	CRNN_HUMAN	K	280	ENSP00000271835:Q280K	ENSP00000271835:Q280K	Q	-	1	0	CRNN	150649344	0.811000	0.29063	0.873000	0.34254	0.248000	0.25809	1.701000	0.37825	2.489000	0.83994	0.585000	0.79938	CAG		0.607	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		T	152382720	G	T	152382720	3	4	132	1	0	0	0	0	1	0	0	0	3892	1357	47	3	653	3	CRNN	1	152382720	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08	149962032	152382720	96867901	2	7197											
NTRK1	4914	broad.mit.edu	37	1	156846212	156846212	+	Silent	SNP	G	G	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr1:156846212G>A	ENST00000524377.1	+	14	1694	c.1653G>A	c.(1651-1653)gaG>gaA	p.E551E	NTRK1_ENST00000368196.3_Silent_p.E545E|NTRK1_ENST00000392302.2_Silent_p.E515E|NTRK1_ENST00000358660.3_Silent_p.E548E	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	551	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E551E(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGGCGTCCGAGAGTGCTCGGC	0.682			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	1	Substitution - coding silent(1)	ovary(1)	1											48	46	47					1																	156846212		2203	4300	6503	155112836	SO:0001819	synonymous_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1653G>A	1.37:g.156846212G>A			155112836	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	CCDS1161.1																																																																																				0.682	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		A	156846212	G	A	156846212	2	1	132	1	0	0	0	0	0	0	0	1	10706	933	33	2		2	NTRK1	1	156846212	Silent	SNP	G	TCGA-13-1484-01A-01W-0545-08	4463492	156846212	92404409	3	7198											
FZD5	7855	broad.mit.edu	37	2	208632119	208632119	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr2:208632119G>A	ENST00000295417.3	-	2	1898	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	449					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R449C(1)		NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		ATGCCGATGCGGATCATGAGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	2											54	50	51					2																	208632119		2202	4300	6502	208340364	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1345C>T	2.37:g.208632119G>A	ENSP00000354607:p.Arg449Cys		208340364	A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963614	0.74016	.	.	ENSG00000163251	ENST00000295417	D	0.86366	-2.11	5.3	5.3	0.74995	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96705	0.9521	10	0.87932	D	0	.	13.87	0.63612	0.0:0.0:0.8474:0.1526	.	449	Q13467	FZD5_HUMAN	C	449	ENSP00000354607:R449C	ENSP00000354607:R449C	R	-	1	0	FZD5	208340364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.521000	0.67086	2.468000	0.83385	0.561000	0.74099	CGC		0.637	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		A	208632119	G	A	208632119	3	1	132	1	0	0	0	0	1	0	0	0	6133	1116	39	1	416	1	FZD5	2	208632119	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08		208632119	34567254	4	7199											
C2orf67	151050	broad.mit.edu	37	2	210940324	210940324	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr2:210940324G>C	ENST00000281772.9	-	6	1970	c.1707C>G	c.(1705-1707)caC>caG	p.H569Q	KANSL1L_ENST00000452086.1_Missense_Mutation_p.H569Q|KANSL1L_ENST00000457374.1_Missense_Mutation_p.H569Q|KANSL1L_ENST00000418791.1_Missense_Mutation_p.H569Q	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	569						histone acetyltransferase complex (GO:0000123)		p.H569Q(1)									GTTTTCGTTTGTGGAAACTCT	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											161	139	146					2																	210940324		2203	4300	6503	210648569	SO:0001583	missense	151050			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1707C>G	2.37:g.210940324G>C	ENSP00000281772:p.His569Gln		210648569	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.19|10.19	1.281496|1.281496	0.23392|0.23392	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000428655	.|.	.|.	.|.	5.75|5.75	3.89|3.89	0.44902|0.44902	.|.	0.363356|.	0.27922|.	N|.	0.017305|.	T|T	0.36580|0.36580	0.0972|0.0972	L|L	0.31926|0.31926	0.97|0.97	0.33413|0.33413	D|D	0.578835|0.578835	B;B;B;B|.	0.20052|.	0.026;0.017;0.041;0.041|.	B;B;B;B|.	0.18561|.	0.015;0.01;0.022;0.022|.	T|T	0.44757|0.44757	-0.9307|-0.9307	9|5	0.18276|.	T|.	0.48|.	.|.	4.3291|4.3291	0.11055|0.11055	0.0865:0.1681:0.5933:0.1521|0.0865:0.1681:0.5933:0.1521	.|.	569;569;569;569|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.	.;.;.;CB067_HUMAN|.	Q|E	569|264	.|.	ENSP00000281772:H569Q|.	H|Q	-|-	3|1	2|0	C2orf67|C2orf67	210648569|210648569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.118000|2.118000	0.41949|0.41949	0.709000|0.709000	0.31976|0.31976	0.557000|0.557000	0.71058|0.71058	CAC|CAA		0.413	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		C	210940324	G	C	210940324	3	2	132	1	0	0	0	0	1	0	0	0	2186	1368	48	3	1296	3	C2orf67	2	210940324	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08	2308205	210940324	32259049	5	7200											
WNT6	7475	broad.mit.edu	37	2	219738535	219738535	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr2:219738535C>T	ENST00000233948.3	+	4	1283	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	356					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R356C(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCGCTGCCGTGTGCGCAA	0.697																																																1	Substitution - Missense(1)	ovary(1)	2											13	10	11					2																	219738535		2133	4179	6312	219446779	SO:0001583	missense	7475			AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"Wingless-type MMTV integration sites"	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.1066C>T	2.37:g.219738535C>T	ENSP00000233948:p.Arg356Cys		219446779	Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807053	0.50421	.	.	ENSG00000115596	ENST00000233948	T	0.77358	-1.09	4.32	3.44	0.39384	.	0.493477	0.20647	N	0.088287	T	0.67942	0.2947	L	0.58510	1.815	0.34455	D	0.701152	P	0.39116	0.66	B	0.35073	0.195	T	0.72640	-0.4232	10	0.45353	T	0.12	.	4.8106	0.13342	0.3874:0.5089:0.0:0.1037	.	356	Q9Y6F9	WNT6_HUMAN	C	356	ENSP00000233948:R356C	ENSP00000233948:R356C	R	+	1	0	WNT6	219446779	0.121000	0.22262	1.000000	0.80357	0.880000	0.50808	0.054000	0.14205	1.021000	0.39600	-0.268000	0.10319	CGT		0.697	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		T	219738535	C	T	219738535	3	4	132	1	0	0	0	0	1	0	0	0	17393	652	23	1	1080	1	WNT6	2	219738535	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08	8798211	219738535	23460838	6	7201											
COL6A3	1293	broad.mit.edu	37	2	238249531	238249531	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr2:238249531G>C	ENST00000295550.4	-	38	8480	c.8028C>G	c.(8026-8028)gaC>gaG	p.D2676E	COL6A3_ENST00000472056.1_Missense_Mutation_p.D2069E|COL6A3_ENST00000347401.3_Missense_Mutation_p.D2475E|COL6A3_ENST00000409809.1_Missense_Mutation_p.D2470E|COL6A3_ENST00000346358.4_Missense_Mutation_p.D2476E|COL6A3_ENST00000353578.4_Missense_Mutation_p.D2470E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2676	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D2676E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTGGCATTGTCCACGGACT	0.582																																																1	Substitution - Missense(1)	ovary(1)	2											87	81	83					2																	238249531		2203	4300	6503	237914270	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8028C>G	2.37:g.238249531G>C	ENSP00000295550:p.Asp2676Glu		237914270	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	2.037	-0.420995	0.04734	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.87491	-2.26;-2.24;-2.23;-2.22;-2.23;-2.22	5.16	-0.285	0.12866	von Willebrand factor, type A (3);	0.810587	0.10842	N	0.628151	D	0.82486	0.5047	N	0.22421	0.69	0.09310	N	1	B;B;D	0.55385	0.049;0.039;0.971	B;B;P	0.56823	0.034;0.014;0.807	T	0.69928	-0.5012	10	0.06236	T	0.91	.	10.5462	0.45062	0.0702:0.1892:0.6639:0.0767	.	2069;2470;2676	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	E	2676;2475;2470;2069;2470;2476	ENSP00000295550:D2676E;ENSP00000315609:D2475E;ENSP00000315873:D2470E;ENSP00000418285:D2069E;ENSP00000386844:D2470E;ENSP00000295546:D2476E	ENSP00000295550:D2676E	D	-	3	2	COL6A3	237914270	0.683000	0.27633	0.000000	0.03702	0.007000	0.05969	0.895000	0.28363	0.001000	0.14605	-0.137000	0.14449	GAC		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238249531	G	C	238249531	3	2	132	1	0	0	0	0	1	0	0	0	3701	1368	48	3	1533	3	COL6A3	2	238249531	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08	18510996	238249531	4949842	7	7202											
HHLA2	11148	broad.mit.edu	37	3	108076721	108076721	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr3:108076721T>A	ENST00000357759.5	+	6	1130	c.716T>A	c.(715-717)gTt>gAt	p.V239D	HHLA2_ENST00000467562.1_Missense_Mutation_p.V175D|HHLA2_ENST00000489514.2_Missense_Mutation_p.V239D|HHLA2_ENST00000491820.1_Missense_Mutation_p.V239D|HHLA2_ENST00000467761.1_Missense_Mutation_p.V239D	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	239	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)		p.V239D(1)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AGTGAACACGTTTCACTCTCA	0.343																																																1	Substitution - Missense(1)	ovary(1)	3											95	94	95					3																	108076721		1847	4089	5936	109559411	SO:0001583	missense	11148			AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.716T>A	3.37:g.108076721T>A	ENSP00000350402:p.Val239Asp		109559411	B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	CCDS46883.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048866	0.36181	.	.	ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.196400	0.06465	N	0.730022	T	0.77698	0.4169	N	0.14661	0.345	0.45662	D	0.998582	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.68483	0.958;0.958;0.958	T	0.68565	-0.5375	10	0.72032	D	0.01	-1.2002	12.3232	0.54997	0.0:0.0:0.0:1.0	.	175;239;239	B4DKN2;C9J7D0;Q9UM44	.;.;HHLA2_HUMAN	D	239;175;239;239;239	ENSP00000418284:V239D;ENSP00000418345:V175D;ENSP00000350402:V239D;ENSP00000419207:V239D;ENSP00000417856:V239D	ENSP00000350402:V239D	V	+	2	0	HHLA2	109559411	0.063000	0.20901	0.115000	0.21578	0.014000	0.08584	1.400000	0.34577	2.216000	0.71823	0.528000	0.53228	GTT		0.343	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		A	108076721	T	A	108076721	3	1	132	1	0	0	0	0	1	0	0	0	7095	1725	60	5	730	5	HHLA2	3	108076721	Missense_Mutation	SNP	T	TCGA-13-1484-01A-01W-0545-08		108076721	89945709	8	7203											
FTMT	94033	broad.mit.edu	37	5	121187836	121187836	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr5:121187836G>T	ENST00000321339.1	+	1	187	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	60					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.G60W(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGACCCTACCGGGCCCGCCGC	0.751																																																1	Substitution - Missense(1)	ovary(1)	5											12	14	13					5																	121187836		2195	4287	6482	121215735	SO:0001583	missense	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.178G>T	5.37:g.121187836G>T	ENSP00000313691:p.Gly60Trp		121215735		Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279758	0.10458	.	.	ENSG00000181867	ENST00000321339	T	0.65732	-0.17	2.64	-5.28	0.02755	.	.	.	.	.	T	0.44222	0.1283	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.48552	0.581	T	0.48468	-0.9033	9	0.48119	T	0.1	.	2.9831	0.05960	0.2345:0.1044:0.4745:0.1866	.	60	Q8N4E7	FTMT_HUMAN	W	60	ENSP00000313691:G60W	ENSP00000313691:G60W	G	+	1	0	FTMT	121215735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.351000	0.07711	-3.383000	0.00174	-3.757000	0.00021	GGG		0.751	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		T	121187836	G	T	121187836	3	4	132	1	0	0	0	0	1	0	0	0	6085	1116	39	3	180	3	FTMT	5	121187836	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08		121187836	59727424	9	7204											
ARAP3	64411	broad.mit.edu	37	5	141051840	141051840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr5:141051840G>A	ENST00000239440.4	-	10	1479	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*	ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q394*|ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q134*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	472	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.Q472*(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCCCAGCTCTGCCGAGCACCC	0.632																																																1	Substitution - Nonsense(1)	ovary(1)	5											43	46	45					5																	141051840		2201	4296	6497	141032024	SO:0001587	stop_gained	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1414C>T	5.37:g.141051840G>A	ENSP00000239440:p.Gln472*		141032024	B4DIT1|D3DQE3	Nonsense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258730	0.95368	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	.	.	.	3.9	3.9	0.45041	.	0.342307	0.27618	U	0.018578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.9668	0.35881	0.0:0.0:0.6464:0.3536	.	.	.	.	X	394;472;134;472	.	ENSP00000239440:Q472X	Q	-	1	0	ARAP3	141032024	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.195000	0.32186	1.991000	0.58162	0.467000	0.42956	CAG		0.632	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		A	141051840	G	A	141051840	4	1	132	1	0	0	0	0	0	1	0	0	840	1328	46	2	3316	2	ARAP3	5	141051840	Nonsense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08	19864004	141051840	39863420	10	7205											
SYNGAP1	8831	broad.mit.edu	37	6	33411249	33411249	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr6:33411249G>A	ENST00000418600.2	+	15	3021	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.D915N|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.D974N	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	974					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.D974N(1)|p.D959N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCCCCCTGGGGACACCTTTGC	0.647																																																2	Substitution - Missense(2)	ovary(2)	6											103	114	110					6																	33411249		2203	4300	6503	33519227	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2920G>A	6.37:g.33411249G>A	ENSP00000403636:p.Asp974Asn		33519227	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330959	0.41297	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.16073	2.37;2.46;2.45	4.37	4.37	0.52481	.	0.921904	0.09261	N	0.826534	T	0.04137	0.0115	N	0.08118	0	0.36746	D	0.882475	B;B;B	0.26195	0.144;0.119;0.119	B;B;B	0.28011	0.085;0.051;0.037	T	0.32745	-0.9895	10	0.15499	T	0.54	.	14.454	0.67404	0.0:0.0:1.0:0.0	.	974;974;974	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	N	974;974;960;915	ENSP00000293748:D974N;ENSP00000403636:D974N;ENSP00000412475:D915N	ENSP00000293748:D974N	D	+	1	0	SYNGAP1	33519227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.609000	0.61148	2.275000	0.75901	0.491000	0.48974	GAC		0.647	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		A	33411249	G	A	33411249	3	1	132	1	0	0	0	0	1	0	0	0	15447	1174	41	2	2978	2	SYNGAP1	6	33411249	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08		33411249	137703818	11	7206											
TFAP2D	83741	broad.mit.edu	37	6	50696990	50696990	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr6:50696990C>A	ENST00000008391.3	+	5	1076	c.848C>A	c.(847-849)gCa>gAa	p.A283E	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.A283E(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGACGGAAAGCAGCTAATGTC	0.433																																																1	Substitution - Missense(1)	ovary(1)	6											167	147	154					6																	50696990		2203	4300	6503	50804949	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.848C>A	6.37:g.50696990C>A	ENSP00000008391:p.Ala283Glu		50804949		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450512	0.96205	.	.	ENSG00000008197	ENST00000008391	D	0.96940	-4.18	6.08	6.08	0.98989	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98695	0.9562	M	0.92604	3.325	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.98931	1.0787	10	0.87932	D	0	-8.76	20.6721	0.99693	0.0:1.0:0.0:0.0	.	283	Q7Z6R9	AP2D_HUMAN	E	283	ENSP00000008391:A283E	ENSP00000008391:A283E	A	+	2	0	TFAP2D	50804949	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GCA		0.433	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		A	50696990	C	A	50696990	3	1	132	1	0	0	0	0	1	0	0	0	15790	710	25	3	866	3	TFAP2D	6	50696990	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08	17285741	50696990	120418077	12	7207											
SHPRH	257218	broad.mit.edu	37	6	146264368	146264368	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr6:146264368C>T	ENST00000367505.2	-	9	2413	c.2149G>A	c.(2149-2151)Gca>Aca	p.A717T	SHPRH_ENST00000438092.2_Missense_Mutation_p.A717T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A717T|SHPRH_ENST00000367503.3_Missense_Mutation_p.A717T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	717	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.A717T(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)		ATCAGAGTTGCTCTTGTTGAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											75	77	76					6																	146264368		1975	4160	6135	146306061	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.2149G>A	6.37:g.146264368C>T	ENSP00000356475:p.Ala717Thr		146306061	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	35	5.529563	0.96446	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.36	5.36	0.76844	DEAD-like helicase (1);SNF2-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.94066	0.8098	L	0.31157	0.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.999	D	0.94943	0.8093	10	0.87932	D	0	-22.1676	19.4564	0.94892	0.0:1.0:0.0:0.0	.	606;717;717;606	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	T	717;717;717;717;606	ENSP00000356475:A717T;ENSP00000356473:A717T;ENSP00000412797:A717T;ENSP00000275233:A717T	ENSP00000275233:A717T	A	-	1	0	SHPRH	146306061	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.750000	0.85110	2.684000	0.91462	0.650000	0.86243	GCA		0.463	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		T	146264368	C	T	146264368	3	4	132	1	0	0	0	0	1	0	0	0	14294	797	28	2	3034	2	SHPRH	6	146264368	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08	95567378	146264368	24850699	13	7208											
TRRAP	8295	broad.mit.edu	37	7	98573789	98573789	+	Silent	SNP	C	C	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr7:98573789C>T	ENST00000359863.4	+	53	8045	c.7836C>T	c.(7834-7836)agC>agT	p.S2612S	TRRAP_ENST00000355540.3_Silent_p.S2594S|TRRAP_ENST00000446306.3_Silent_p.S2594S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2612					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.S2594S(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGCTGCTCAGCGCTTTCGTTC	0.567																																																1	Substitution - coding silent(1)	ovary(1)	7											107	93	98					7																	98573789		2203	4300	6503	98411725	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7836C>T	7.37:g.98573789C>T			98411725	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	9.639	1.138443	0.21123	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.06	-2.06	0.07298	.	.	.	.	.	T	0.57888	0.2084	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56565	-0.7958	4	.	.	.	.	11.9051	0.52705	0.0:0.2189:0.0:0.7811	.	.	.	.	V	2334	.	.	A	+	2	0	TRRAP	98411725	0.026000	0.19158	0.992000	0.48379	0.790000	0.44656	-0.840000	0.04363	-0.241000	0.09681	-0.136000	0.14681	GCG		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98573789	C	T	98573789	2	4	132	1	0	0	0	0	0	0	0	1	16601	767	27	1		1	TRRAP	7	98573789	Silent	SNP	C	TCGA-13-1484-01A-01W-0545-08		98573789	60564874	14	7209											
ANXA7	310	broad.mit.edu	37	10	75156305	75156305	+	Missense_Mutation	SNP	G	G	C	rs534428824	byFrequency	TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr10:75156305G>C	ENST00000372921.5	-	5	463	c.407C>G	c.(406-408)cCt>cGt	p.P136R	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Missense_Mutation_p.P6R	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	136	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.P136R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TTGTCCTCCAGGATACTGAGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	10											71	66	68					10																	75156305		2203	4300	6503	74826311	SO:0001583	missense	310			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.407C>G	10.37:g.75156305G>C	ENSP00000362012:p.Pro136Arg		74826311	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.768988	0.69992	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178;ENST00000394847	T;T;T	0.05139	3.49;4.33;3.49	5.45	3.55	0.40652	.	2.506280	0.01205	N	0.007688	T	0.23649	0.0572	L	0.54323	1.7	0.44024	D	0.996748	D;D;D;D;D	0.89917	0.998;0.993;0.987;0.996;1.0	P;P;P;D;D	0.91635	0.878;0.878;0.634;0.943;0.999	T	0.00072	-1.2129	10	0.56958	D	0.05	.	9.169	0.37069	0.0:0.16:0.6738:0.1662	.	136;136;63;136;136	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	R	136;136;6;136	ENSP00000362012:P136R;ENSP00000362010:P136R;ENSP00000442864:P6R	ENSP00000362010:P136R	P	-	2	0	ANXA7	74826311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.947000	0.49058	0.734000	0.32515	0.650000	0.86243	CCT		0.373	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		C	75156305	G	C	75156305	3	2	132	1	0	0	0	0	1	0	0	0	723	1000	35	3	1099	3	ANXA7	10	75156305	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08		75156305	60378442	15	7210											
LCOR	84458	broad.mit.edu	37	10	98708852	98708852	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr10:98708852C>T	ENST00000371097.4	+	6	584	c.38C>T	c.(37-39)aCc>aTc	p.T13I	LCOR_ENST00000356016.3_Missense_Mutation_p.T13I|LCOR_ENST00000540664.1_Missense_Mutation_p.T13I|LCOR_ENST00000371103.3_Missense_Mutation_p.T13I			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	13					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T13I(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GCTGAATATACCTCAAAAAAT	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											84	83	83					10																	98708852		2203	4300	6503	98698842	SO:0001583	missense	84458				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.38C>T	10.37:g.98708852C>T	ENSP00000360138:p.Thr13Ile		98698842	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713690	0.48517	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	N	0.16368	0.405	0.53005	D	0.999967	D;D	0.69078	0.994;0.997	D;D	0.77557	0.99;0.979	T	0.51795	-0.8660	9	0.07175	T	0.84	-2.6279	18.323	0.90244	0.0:1.0:0.0:0.0	.	13;13	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	I	13	.	ENSP00000348298:T13I	T	+	2	0	LCOR	98698842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.866000	0.69590	2.379000	0.81126	0.650000	0.86243	ACC		0.507	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			T	98708852	C	T	98708852	3	4	132	1	0	0	0	0	1	0	0	0	8689	507	18	2	40	2	LCOR	10	98708852	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08	23552547	98708852	36825895	16	7211											
RRP12	23223	broad.mit.edu	37	10	99150572	99150572	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr10:99150572A>T	ENST00000370992.4	-	5	671	c.560T>A	c.(559-561)tTc>tAc	p.F187Y	RRP12_ENST00000315563.6_Intron|RRP12_ENST00000414986.1_Intron|RRP12_ENST00000536831.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	187						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.F187Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGTATCAGAGAACTTCTTAAT	0.542																																																1	Substitution - Missense(1)	ovary(1)	10											137	141	139					10																	99150572		2203	4300	6503	99140562	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.560T>A	10.37:g.99150572A>T	ENSP00000360031:p.Phe187Tyr		99140562	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	A	34	5.379580	0.95945	.	.	ENSG00000052749	ENST00000370992	T	0.65549	-0.16	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.044332	0.85682	D	0.000000	T	0.79323	0.4426	M	0.89601	3.045	0.80722	D	1	P	0.46395	0.877	P	0.53266	0.722	D	0.83903	0.0291	10	0.87932	D	0	-14.1579	16.1528	0.81634	1.0:0.0:0.0:0.0	.	187	Q5JTH9	RRP12_HUMAN	Y	187	ENSP00000360031:F187Y	ENSP00000360031:F187Y	F	-	2	0	RRP12	99140562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.041000	0.76558	2.210000	0.71456	0.529000	0.55759	TTC		0.542	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		T	99150572	A	T	99150572	3	4	132	1	0	0	0	0	1	0	0	0	13689	246	9	5	3453	5	RRP12	10	99150572	Missense_Mutation	SNP	A	TCGA-13-1484-01A-01W-0545-08	441720	99150572	36384175	17	7212											
CRTAC1	55118	broad.mit.edu	37	10	99667899	99667899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr10:99667899G>A	ENST00000370597.3	-	6	1076	c.721C>T	c.(721-723)Cga>Tga	p.R241*	CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.R241*|CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.R241*	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	241						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R241*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTGACGCCTCGGCCCCCTAGA	0.617																																																1	Substitution - Nonsense(1)	ovary(1)	10											45	38	40					10																	99667899		2203	4300	6503	99657889	SO:0001587	stop_gained	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.721C>T	10.37:g.99667899G>A	ENSP00000359629:p.Arg241*		99657889	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Nonsense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	41	9.069125	0.99055	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5904	18.8318	0.92143	0.0:0.0:1.0:0.0	.	.	.	.	X	137;241;241;233;241	.	ENSP00000298819:R241X	R	-	1	2	CRTAC1	99657889	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.652000	0.74377	2.440000	0.82611	0.555000	0.69702	CGA		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		A	99667899	G	A	99667899	4	1	132	1	0	0	0	0	0	1	0	0	3896	1124	39	1	1304	1	CRTAC1	10	99667899	Nonsense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08	517327	99667899	35866848	18	7213											
PPRC1	23082	broad.mit.edu	37	10	103897627	103897627	+	Silent	SNP	G	G	A	rs574814323		TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr10:103897627G>A	ENST00000278070.2	+	2	213	c.174G>A	c.(172-174)gcG>gcA	p.A58A	PPRC1_ENST00000413464.2_Silent_p.A58A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A58A(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATGAGGAGGCGGGTGATTCTG	0.547													G|||	1	0.000199681	0	0	5008	,	,		19871	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	10											83	70	74					10																	103897627		2203	4300	6503	103887617	SO:0001819	synonymous_variant	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.174G>A	10.37:g.103897627G>A			103887617	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	CCDS7529.1																																																																																				0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103897627	G	A	103897627	2	1	132	1	0	0	0	0	0	0	0	1	12413	1103	39	1		1	PPRC1	10	103897627	Silent	SNP	G	TCGA-13-1484-01A-01W-0545-08	4229728	103897627	31637120	19	7214											
OBFC1	79991	broad.mit.edu	37	10	105648867	105648867	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr10:105648867G>C	ENST00000224950.3	-	9	1079	c.912C>G	c.(910-912)atC>atG	p.I304M	OBFC1_ENST00000369764.1_Missense_Mutation_p.I304M|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	304	Winged helix-turn-helix (wHTH) 2.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.I304M(1)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TGATCCGGTGGATCTTTCTGT	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											164	152	156					10																	105648867		2203	4300	6503	105638857	SO:0001583	missense	79991			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.912C>G	10.37:g.105648867G>C	ENSP00000224950:p.Ile304Met		105638857	D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082355	0.36758	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.55052	0.54;0.54	5.25	2.34	0.29019	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.181068	0.48767	D	0.000161	T	0.59622	0.2207	M	0.75447	2.3	0.35338	D	0.786276	P	0.50819	0.939	P	0.53006	0.715	T	0.66999	-0.5781	10	0.72032	D	0.01	-10.2385	7.2178	0.25969	0.0812:0.0:0.6164:0.3024	.	304	Q9H668	STN1_HUMAN	M	304	ENSP00000224950:I304M;ENSP00000358779:I304M	ENSP00000224950:I304M	I	-	3	3	OBFC1	105638857	1.000000	0.71417	0.209000	0.23619	0.299000	0.27559	2.737000	0.47393	0.199000	0.20427	0.561000	0.74099	ATC		0.468	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		C	105648867	G	C	105648867	3	2	132	1	0	0	0	0	1	0	0	0	10807	1164	41	3	202	3	OBFC1	10	105648867	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08	1751240	105648867	29885880	20	7215											
C11orf41	25758	broad.mit.edu	37	11	33566506	33566506	+	Silent	SNP	C	C	T	rs531225970		TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr11:33566506C>T	ENST00000321505.4	+	2	2256	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A	KIAA1549L_ENST00000389726.3_Silent_p.A698A|KIAA1549L_ENST00000265654.5_Silent_p.A698A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	692						integral component of membrane (GO:0016021)		p.A698A(1)									CAAACAAGGCCGCATCTGGCC	0.527													c|||	1	0.000199681	0	0	5008	,	,		22666	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	11											71	83	79					11																	33566506		2051	4177	6228	33523082	SO:0001819	synonymous_variant	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2076C>T	11.37:g.33566506C>T			33523082	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.593529	0.00864	.	.	ENSG00000110427	ENST00000526400	.	.	.	4.7	-6.27	0.02026	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	-0.568	0.7139	0.00929	0.1698:0.2853:0.2239:0.321	.	.	.	.	L	90	.	.	P	+	2	0	C11orf41	33523082	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.092000	0.11129	-1.595000	0.01613	-3.005000	0.00076	CCG		0.527	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		T	33566506	C	T	33566506	2	4	132	1	0	0	0	0	0	0	0	1	1640	639	23	1		1	C11orf41	11	33566506	Silent	SNP	C	TCGA-13-1484-01A-01W-0545-08		33566506	101440010	21	7216											
XRRA1	254225	broad.mit.edu	37	11	74556116	74556116	+	IGR	SNP	A	A	G			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr11:74556116A>G	ENST00000299563.4	+	0	7823				XRRA1_ENST00000340360.6_Splice_Site|XRRA1_ENST00000527087.1_Splice_Site|RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Splice_Site	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GCCCTCACATACCCTTTGGCT	0.547																																																0			11											136	139	138					11																	74556116		2016	4183	6199	74233764	SO:0001628	intergenic_variant	143570			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74556116A>G			74233764	Q6N015	Splice_Site	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537549	0.65085	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8738	0.63638	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRRA1	74233764	1.000000	0.71417	0.988000	0.46212	0.771000	0.43674	5.110000	0.64622	2.371000	0.80710	0.533000	0.62120	.		0.547	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		G	74556116	A	G	74556116	1	3	132	0	1	0	0	0	0	0	0	0	17461	405	14	4		4	XRRA1	11	74556116	IGR	SNP	A	TCGA-13-1484-01A-01W-0545-08	40989610	74556116	60450400	22	7217											
SLC37A2	219855	broad.mit.edu	37	11	124950579	124950579	+	Silent	SNP	C	C	A	rs368215154		TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr11:124950579C>A	ENST00000403796.2	+	7	898	c.597C>A	c.(595-597)gcC>gcA	p.A199A	SLC37A2_ENST00000407458.1_Silent_p.A199A|SLC37A2_ENST00000298280.5_Silent_p.A199A|SLC37A2_ENST00000308074.4_Silent_p.A199A	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	199					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.A199A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CCCTGATCGCCGGCATCTGGG	0.587																																					Melanoma(11;373 620 21213 26083 47768)											1	Substitution - coding silent(1)	ovary(1)	11											83	73	76					11																	124950579		2201	4299	6500	124455789	SO:0001819	synonymous_variant	219855			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.597C>A	11.37:g.124950579C>A			124455789	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	CCDS44757.1																																																																																				0.587	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		A	124950579	C	A	124950579	2	1	132	1	0	0	0	0	0	0	0	1	14601	639	23	3		3	SLC37A2	11	124950579	Silent	SNP	C	TCGA-13-1484-01A-01W-0545-08	50394463	124950579	10055937	23	7218											
LRFN5	145581	broad.mit.edu	37	14	42357161	42357161	+	Missense_Mutation	SNP	C	C	T	rs548468008		TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr14:42357161C>T	ENST00000298119.4	+	3	2522	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	LRFN5_ENST00000554120.1_Missense_Mutation_p.R445C|LRFN5_ENST00000554171.1_Missense_Mutation_p.R445C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	445	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.R445C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCCTGGAATACGTATGTTTCA	0.333										HNSCC(30;0.082)																																						1	Substitution - Missense(1)	ovary(1)	14											40	40	40					14																	42357161		2203	4299	6502	41426911	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1333C>T	14.37:g.42357161C>T	ENSP00000298119:p.Arg445Cys		41426911	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690969	0.48097	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.69561	-0.41;0.55;0.54	5.4	5.4	0.78164	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000021	T	0.79805	0.4509	M	0.70595	2.14	0.80722	D	1	D;P	0.69078	0.997;0.8	D;B	0.63033	0.91;0.188	T	0.81382	-0.0958	10	0.66056	D	0.02	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	445;445	G3V364;Q96NI6	.;LRFN5_HUMAN	C	445	ENSP00000298119:R445C;ENSP00000451897:R445C;ENSP00000451067:R445C	ENSP00000298119:R445C	R	+	1	0	LRFN5	41426911	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.965000	0.56788	2.680000	0.91292	0.563000	0.77884	CGT		0.333	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42357161	C	T	42357161	3	4	132	1	0	0	0	0	1	0	0	0	8941	536	19	1	1335	1	LRFN5	14	42357161	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08		42357161	64992379	24	7219											
KCNH5	27133	broad.mit.edu	37	14	63175122	63175122	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr14:63175122G>A	ENST00000322893.7	-	11	2339	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	691					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R691W(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCTTCTGCCGGAGGCGCTCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	14											90	96	94					14																	63175122		2203	4300	6503	62244875	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2071C>T	14.37:g.63175122G>A	ENSP00000321427:p.Arg691Trp		62244875	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694519	0.48202	.	.	ENSG00000140015	ENST00000322893	T	0.18810	2.19	5.72	-1.01	0.10169	.	0.061597	0.64402	D	0.000005	T	0.35480	0.0933	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	P	0.55455	0.776	T	0.48958	-0.8988	10	0.72032	D	0.01	.	18.1397	0.89636	0.0:0.0:0.5687:0.4313	.	691	Q8NCM2	KCNH5_HUMAN	W	691	ENSP00000321427:R691W	ENSP00000321427:R691W	R	-	1	2	KCNH5	62244875	0.987000	0.35691	0.336000	0.25522	0.988000	0.76386	0.335000	0.19806	-0.125000	0.11703	-0.169000	0.13324	CGG		0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		A	63175122	G	A	63175122	3	1	132	1	0	0	0	0	1	0	0	0	8035	1115	39	1	899	1	KCNH5	14	63175122	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08	20817961	63175122	44174418	25	7220											
CES3	23491	broad.mit.edu	37	16	67000733	67000733	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr16:67000733G>T	ENST00000303334.4	+	8	1098	c.1027G>T	c.(1027-1029)Gtc>Ttc	p.V343F	CES3_ENST00000394037.1_Missense_Mutation_p.V343F|CES3_ENST00000543856.1_5'Flank	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	343						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.V343F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CCTCATGGGTGTCAACAACCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	16											135	132	133					16																	67000733		2200	4300	6500	65558234	SO:0001583	missense	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1027G>T	16.37:g.67000733G>T	ENSP00000304782:p.Val343Phe		65558234	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	7.963	0.747408	0.15710	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.69926	-0.44;-0.44	3.97	-4.55	0.03441	Carboxylesterase, type B (1);	0.966274	0.08423	N	0.947996	T	0.50922	0.1644	L	0.31804	0.96	0.38946	D	0.95825	B	0.20368	0.044	B	0.26614	0.071	T	0.14615	-1.0466	10	0.30078	T	0.28	.	10.0584	0.42259	0.0:0.1208:0.2634:0.6159	.	343	Q6UWW8	EST3_HUMAN	F	343	ENSP00000304782:V343F;ENSP00000377602:V343F	ENSP00000304782:V343F	V	+	1	0	CES3	65558234	0.000000	0.05858	0.308000	0.25141	0.291000	0.27294	-0.895000	0.04118	-1.177000	0.02744	-0.919000	0.02742	GTC		0.577	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		T	67000733	G	T	67000733	3	4	132	1	0	0	0	0	1	0	0	0	3271	1377	48	3	1057	3	CES3	16	67000733	Missense_Mutation	SNP	G	TCGA-13-1484-01A-01W-0545-08		67000733	23354020	26	7221											
TAT	6898	broad.mit.edu	37	16	71604176	71604176	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr16:71604176A>C	ENST00000355962.4	-	9	1170	c.1037T>G	c.(1036-1038)cTc>cGc	p.L346R	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	346					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.L346R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CCTTACCTTGAGGAAGCTCAG	0.527																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											1	Substitution - Missense(1)	ovary(1)	16											57	53	54					16																	71604176		2198	4300	6498	70161677	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1037T>G	16.37:g.71604176A>C	ENSP00000348234:p.Leu346Arg		70161677	B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.666510	0.88251	.	.	ENSG00000198650	ENST00000355962	D	0.92858	-3.12	5.7	5.7	0.88788	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.117288	0.64402	D	0.000013	D	0.96241	0.8774	H	0.94183	3.505	0.80722	D	1	D	0.65815	0.995	P	0.59056	0.851	D	0.96765	0.9564	10	0.87932	D	0	-23.6302	10.3856	0.44138	0.9274:0.0:0.0726:0.0	.	346	P17735	ATTY_HUMAN	R	346	ENSP00000348234:L346R	ENSP00000348234:L346R	L	-	2	0	TAT	70161677	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.570000	0.82390	2.187000	0.69744	0.524000	0.50904	CTC		0.527	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			C	71604176	A	C	71604176	3	2	132	1	0	0	0	0	1	0	0	0	15590	304	11	5	343	5	TAT	16	71604176	Missense_Mutation	SNP	A	TCGA-13-1484-01A-01W-0545-08	4603443	71604176	18750577	27	7222											
TP53	7157	broad.mit.edu	37	17	7577581	7577581	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr17:7577581A>T	ENST00000269305.4	-	7	889	c.700T>A	c.(700-702)Tac>Aac	p.Y234N	TP53_ENST00000413465.2_Missense_Mutation_p.Y234N|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y234N|TP53_ENST00000359597.4_Missense_Mutation_p.Y234N|TP53_ENST00000420246.2_Missense_Mutation_p.Y234N|TP53_ENST00000445888.2_Missense_Mutation_p.Y234N	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234H(20)|p.Y234N(14)|p.0?(8)|p.Y234D(6)|p.?(5)|p.Y234del(3)|p.Y141H(1)|p.Y234R(1)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234fs*6(1)|p.Y141D(1)|p.T230_Y234delTTIHY(1)|p.Y141N(1)|p.H233fs*6(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	ATGTAGTTGTAGTGGATGGTG	0.567		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"	71	Substitution - Missense(44)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(11)|skin(9)|stomach(6)|large_intestine(6)|breast(6)|biliary_tract(5)|prostate(5)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|oesophagus(2)|liver(2)|eye(1)|kidney(1)|endometrium(1)|urinary_tract(1)	17											117	93	101					17																	7577581		2203	4300	6503	7518306	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.700T>A	17.37:g.7577581A>T	ENSP00000269305:p.Tyr234Asn		7518306	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	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611438	0.66558	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99809	0.9917	M	0.88105	2.93	0.50467	D	0.999875	D;D;D;D;D;D	0.89917	0.979;1.0;0.999;0.968;0.99;1.0	D;D;D;D;D;D	0.97110	0.911;0.997;0.983;0.923;0.971;1.0	D	0.96833	0.9612	10	0.87932	D	0	-10.1131	12.3101	0.54924	1.0:0.0:0.0:0.0	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	N	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234N;ENSP00000352610:Y234N;ENSP00000269305:Y234N;ENSP00000398846:Y234N;ENSP00000391127:Y234N;ENSP00000391478:Y234N;ENSP00000425104:Y102N;ENSP00000423862:Y141N	ENSP00000269305:Y234N	Y	-	1	0	TP53	7518306	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.278000	0.58946	2.074000	0.62210	0.379000	0.24179	TAC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577581	A	T	7577581	3	4	132	1	0	0	0	0	1	0	0	0	16381	420	15	5	590	5	TP53	17	7577581	Missense_Mutation	SNP	A	TCGA-13-1484-01A-01W-0545-08		7577581	73617629	28	7223											
ZPBP2	124626	broad.mit.edu	37	17	38029310	38029310	+	Silent	SNP	G	G	A	rs138409314	byFrequency	TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr17:38029310G>A	ENST00000348931.4	+	6	830	c.639G>A	c.(637-639)gcG>gcA	p.A213A	ZPBP2_ENST00000584588.1_Silent_p.A140A|ZPBP2_ENST00000377940.3_Silent_p.A191A	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	213					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.A213A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCCTTTTGCGCCGGGGTGGA	0.383																																																1	Substitution - coding silent(1)	ovary(1)	17											126	113	117					17																	38029310		2203	4300	6503	35282836	SO:0001819	synonymous_variant	124626			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.639G>A	17.37:g.38029310G>A			35282836	A8K8L8|Q6X783|Q86XL5	Silent	SNP	ENST00000348931.4	37	CCDS11352.1																																																																																				0.383	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		A	38029310	G	A	38029310	2	1	132	1	0	0	0	0	0	0	0	1	18220	1074	38	1		1	ZPBP2	17	38029310	Silent	SNP	G	TCGA-13-1484-01A-01W-0545-08	30451729	38029310	43165900	29	7224											
SEPT9	10801	broad.mit.edu	37	17	75484371	75484371	+	Silent	SNP	A	A	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr17:75484371A>T	ENST00000427177.1	+	6	1218	c.1092A>T	c.(1090-1092)ccA>ccT	p.P364P	SEPT9_ENST00000431235.2_Silent_p.P200P|SEPT9_ENST00000591198.1_Silent_p.P345P|SEPT9_ENST00000541152.2_Silent_p.P113P|SEPT9_ENST00000588690.1_Silent_p.P200P|SEPT9_ENST00000427180.1_Silent_p.P252P|SEPT9_ENST00000590294.1_Silent_p.P346P|SEPT9_ENST00000585930.1_Silent_p.P140P|SEPT9_ENST00000449803.2_Silent_p.P200P|SEPT9_ENST00000591088.1_Silent_p.P113P|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000329047.8_Silent_p.P346P|SEPT9_ENST00000592951.1_Silent_p.P113P|SEPT9_ENST00000423034.2_Silent_p.P357P|SEPT9_ENST00000427674.2_Silent_p.P200P	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	364	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P346P(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TTGACACACCAGGGTTCGGGG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	17											78	83	81					17																	75484371		2060	4208	6268	72995966	SO:0001819	synonymous_variant	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.1092A>T	17.37:g.75484371A>T			72995966	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	ENST00000427177.1	37	CCDS45790.1																																																																																				0.607	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		T	75484371	A	T	75484371	2	4	132	1	0	0	0	0	0	0	0	1	14074	175	7	5		5	SEPT9	17	75484371	Silent	SNP	A	TCGA-13-1484-01A-01W-0545-08	37455061	75484371	5710839	30	7225											
MBD3	53615	broad.mit.edu	37	19	1578479	1578479	+	Missense_Mutation	SNP	C	C	G	rs548368623		TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr19:1578479C>G	ENST00000434436.3	-	6	865	c.736G>C	c.(736-738)Gac>Cac	p.D246H	UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000592012.1_Missense_Mutation_p.D214H|MBD3_ENST00000156825.1_Missense_Mutation_p.D246H|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000590550.2_Missense_Mutation_p.D190H	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	246					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)	p.D246H(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCATGTCGGCCATCAGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	19											67	68	68					19																	1578479		2203	4300	6503	1529479	SO:0001583	missense	53615			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.736G>C	19.37:g.1578479C>G	ENSP00000412302:p.Asp246His		1529479	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935106	0.73442	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.99136	-5.47	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	L	0.29908	0.895	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.99828	1.1052	10	0.56958	D	0.05	-41.8659	15.3787	0.74633	0.0:1.0:0.0:0.0	.	214;246	O95983-2;O95983	.;MBD3_HUMAN	H	214;246	ENSP00000156825:D246H	ENSP00000156825:D246H	D	-	1	0	MBD3	1529479	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.833000	0.69349	1.950000	0.56595	0.313000	0.20887	GAC		0.672	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		G	1578479	C	G	1578479	3	3	132	1	0	0	0	0	1	0	0	0	9344	884	31	3	143	3	MBD3	19	1578479	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08		1578479	57550504	31	7226											
ZNF77	58492	broad.mit.edu	37	19	2933602	2933602	+	Missense_Mutation	SNP	C	C	T	rs139100623|rs565530193	byFrequency	TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr19:2933602C>T	ENST00000314531.4	-	4	1615	c.1523G>A	c.(1522-1524)cGt>cAt	p.R508H		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R508H(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGTGCACACGAAGGGACGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	19						C	HIS/ARG	0,4406		0,0,2203	212	174	187		1523	1.5	0	19	dbSNP_134	187	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF77	NM_021217.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	508/546	2933602	2,13004	2203	4300	6503	2884602	SO:0001583	missense	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1523G>A	19.37:g.2933602C>T	ENSP00000319053:p.Arg508His		2884602	Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910970	0.33721	0.0	2.33E-4	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.08102	3.13	2.56	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	L	0.31120	0.905	0.09310	N	1	D	0.63880	0.993	P	0.48952	0.596	T	0.30504	-0.9976	9	0.35671	T	0.21	.	4.6621	0.12648	0.0:0.6857:0.0:0.3143	.	508	Q15935	ZNF77_HUMAN	H	302;508	ENSP00000319053:R508H	ENSP00000319053:R508H	R	-	2	0	ZNF77	2884602	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.909000	0.01586	0.415000	0.25817	0.491000	0.48974	CGT		0.493	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		T	2933602	C	T	2933602	3	4	132	1	0	0	0	0	1	0	0	0	18142	536	19	1	118	1	ZNF77	19	2933602	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08	1355123	2933602	56195381	32	7227											
NDUFB7	4713	broad.mit.edu	37	19	14677058	14677058	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr19:14677058C>T	ENST00000215565.2	-	3	362	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	101					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.E101K(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CGCTCAAACTCCTTCATGCGC	0.667																																																1	Substitution - Missense(1)	ovary(1)	19											38	42	41					19																	14677058		2203	4300	6503	14538058	SO:0001583	missense	4713				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"Mitochondrial respiratory chain complex / Complex I"	7702	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit"	603842	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.301G>A	19.37:g.14677058C>T	ENSP00000215565:p.Glu101Lys		14538058	Q6ICN9|Q9UI16	Missense_Mutation	SNP	ENST00000215565.2	37	CCDS12314.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638664	0.87760	.	.	ENSG00000099795	ENST00000215565	T	0.47177	0.85	5.47	5.47	0.80525	.	0.052695	0.64402	D	0.000001	T	0.55689	0.1936	L	0.41492	1.28	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	T	0.52808	-0.8526	10	0.42905	T	0.14	-8.8489	12.5382	0.56154	0.0:0.8321:0.1679:0.0	.	101	P17568	NDUB7_HUMAN	K	101	ENSP00000215565:E101K	ENSP00000215565:E101K	E	-	1	0	NDUFB7	14538058	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.436000	0.66538	2.579000	0.87056	0.585000	0.79938	GAG		0.667	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466025.1	NM_004146		T	14677058	C	T	14677058	3	4	132	1	0	0	0	0	1	0	0	0	10286	864	30	2	116	2	NDUFB7	19	14677058	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08	11743456	14677058	44451925	33	7228											
USP29	57663	broad.mit.edu	37	19	57640874	57640874	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr19:57640874C>A	ENST00000254181.4	+	4	1285	c.831C>A	c.(829-831)gaC>gaA	p.D277E	USP29_ENST00000598197.1_Missense_Mutation_p.D277E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	277					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.D277E(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCCTCTTGACTCTCATTCAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	19											81	79	80					19																	57640874		2203	4300	6503	62332686	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.831C>A	19.37:g.57640874C>A	ENSP00000254181:p.Asp277Glu		62332686		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	4.716	0.133164	0.09032	.	.	ENSG00000131864	ENST00000254181	T	0.47869	0.83	2.44	1.4	0.22301	.	0.810321	0.10056	U	0.721568	T	0.28599	0.0708	N	0.21373	0.66	0.09310	N	1	B	0.30511	0.282	B	0.30943	0.122	T	0.22765	-1.0207	10	0.17369	T	0.5	-4.1205	5.1453	0.14981	0.0:0.8309:0.0:0.1691	.	277	Q9HBJ7	UBP29_HUMAN	E	277	ENSP00000254181:D277E	ENSP00000254181:D277E	D	+	3	2	USP29	62332686	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.106000	0.15354	0.577000	0.29470	-0.237000	0.12165	GAC		0.473	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			A	57640874	C	A	57640874	3	1	132	1	0	0	0	0	1	0	0	0	17059	564	20	3	833	3	USP29	19	57640874	Missense_Mutation	SNP	C	TCGA-13-1484-01A-01W-0545-08	42963816	57640874	1488109	34	7229											
CASS4	57091	broad.mit.edu	37	20	55033485	55033485	+	Silent	SNP	G	G	A			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chr20:55033485G>A	ENST00000360314.3	+	7	2268	c.2043G>A	c.(2041-2043)ggG>ggA	p.G681G	CASS4_ENST00000371336.3_Silent_p.G681G|AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000434344.1_Silent_p.G244G	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	681					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.G681G(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCTACTTTGGGGCGCTCTTCA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	20											59	59	59					20																	55033485		2203	4300	6503	54466892	SO:0001819	synonymous_variant	57091			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2043G>A	20.37:g.55033485G>A			54466892	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	CCDS33492.1																																																																																				0.557	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		A	55033485	G	A	55033485	2	1	132	1	0	0	0	0	0	0	0	1	2683	1219	43	2		2	CASS4	20	55033485	Silent	SNP	G	TCGA-13-1484-01A-01W-0545-08		55033485	7992035	35	7230											
PTCHD1	139411	broad.mit.edu	37	X	23411777	23411777	+	Silent	SNP	G	G	T			TCGA-13-1484-01A-01W-0545-08	TCGA-13-1484-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	379ee54e-fe99-4051-87bc-ecb12a55616d	1a26bbf3-b968-4d45-9c86-3d9c8fd31947	g.chrX:23411777G>T	ENST00000379361.4	+	3	3002	c.2142G>T	c.(2140-2142)tcG>tcT	p.S714S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	714					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.S609S(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TCTTCTTCTCGGCATTCCTGG	0.483																																																1	Substitution - coding silent(1)	ovary(1)	X											114	102	106					X																	23411777		2203	4300	6503	23321698	SO:0001819	synonymous_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2142G>T	X.37:g.23411777G>T			23321698	B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	CCDS35215.2																																																																																				0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		T	23411777	G	T	23411777	2	4	132	1	0	0	0	0	0	0	0	1	12735	1103	39	3		3	PTCHD1	23	23411777	Silent	SNP	G	TCGA-13-1484-01A-01W-0545-08		23411777	131858783	36	7231											
SGIP1	84251	broad.mit.edu	37	1	67147567	67147567	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr1:67147567C>A	ENST00000371037.4	+	15	907	c.830C>A	c.(829-831)gCc>gAc	p.A277D	SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A281D|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	277	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.A277D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GACCAGTCAGCCACAGAGGTC	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											96	96	96					1																	67147567		2203	4300	6503	66920155	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.830C>A	1.37:g.67147567C>A	ENSP00000360076:p.Ala277Asp		66920155	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713034	0.48517	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03094	4.05;4.05	5.45	5.45	0.79879	.	0.263211	0.36591	N	0.002507	T	0.01765	0.0056	L	0.29908	0.895	0.80722	D	1	B;B	0.28713	0.22;0.041	B;B	0.28139	0.086;0.037	T	0.55698	-0.8100	10	0.38643	T	0.18	-15.2366	14.4956	0.67685	0.1467:0.8532:0.0:0.0	.	280;277	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	D	281;280;280;277	ENSP00000237247:A281D;ENSP00000360076:A277D	ENSP00000237247:A281D	A	+	2	0	SGIP1	66920155	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.278000	0.33179	2.708000	0.92522	0.650000	0.86243	GCC		0.403	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		A	67147567	C	A	67147567	3	1	133	1	0	0	0	0	1	0	0	0	14209	739	26	3	888	3	SGIP1	1	67147567	Missense_Mutation	SNP	C	TCGA-13-1487-01A-01D-0472-08		67147567	182103054	1	7232											
RORC	6097	broad.mit.edu	37	1	151785423	151785423	+	Splice_Site	SNP	G	G	A	rs202038919		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr1:151785423G>A	ENST00000318247.6	-	9	1392	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Splice_Site_p.H483Y|RORC_ENST00000356728.6_Splice_Site_p.H408Y	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	429	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.H429Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAACACTCACGGGCATTGATG	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											74	66	69					1																	151785423		2203	4300	6503	150052047	SO:0001630	splice_region_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1285+1C>T	1.37:g.151785423G>A			150052047	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911793	0.33721	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.95069	-3.6;-3.6;-3.6	4.78	1.04	0.20106	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.458599	0.20794	N	0.085578	T	0.70116	0.3187	N	0.08118	0	0.26351	N	0.977207	B;B;B;B	0.20164	0.002;0.042;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.64339	-0.6431	9	.	.	.	.	6.5397	0.22372	0.2687:0.0:0.1416:0.5897	.	417;483;429;408	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	Y	408;483;429	ENSP00000349164:H408Y;ENSP00000376461:H483Y;ENSP00000327025:H429Y	.	H	-	1	0	RORC	150052047	0.981000	0.34729	0.999000	0.59377	0.779000	0.44077	0.155000	0.16362	-0.019000	0.14055	-1.006000	0.02489	CAT		0.498	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		Missense_Mutation	A	151785423	G	A	151785423	5	1	133	1	0	0	0	0	0	0	1	0	13533	1130	39	1	283	1	RORC	1	151785423	Splice_Site	SNP	G	TCGA-13-1487-01A-01D-0472-08	84637856	151785423	97465198	2	7233											
PEAR1	375033	broad.mit.edu	37	1	156882745	156882745	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr1:156882745G>A	ENST00000338302.3	+	19	2618	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	PEAR1_ENST00000292357.7_Missense_Mutation_p.R798H			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	798					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.R798H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCAGCGGGCGCCTGGACGGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											62	62	62					1																	156882745		2203	4300	6503	155149369	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2393G>A	1.37:g.156882745G>A	ENSP00000344465:p.Arg798His		155149369	Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579755	0.46006	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.90261	-2.64;-2.64	5.23	3.1	0.35709	.	0.419192	0.17965	N	0.156045	D	0.86276	0.5894	M	0.73962	2.25	0.36615	D	0.875433	D	0.76494	0.999	P	0.50791	0.65	D	0.83458	0.0052	10	0.45353	T	0.12	.	3.5833	0.07962	0.2366:0.0:0.5764:0.187	.	798	Q5VY43	PEAR1_HUMAN	H	798	ENSP00000344465:R798H;ENSP00000292357:R798H	ENSP00000292357:R798H	R	+	2	0	PEAR1	155149369	0.297000	0.24408	0.118000	0.21660	0.045000	0.14185	1.085000	0.30840	0.590000	0.29694	0.563000	0.77884	CGC		0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		A	156882745	G	A	156882745	3	1	133	1	0	0	0	0	1	0	0	0	11712	1087	38	1	2459	1	PEAR1	1	156882745	Missense_Mutation	SNP	G	TCGA-13-1487-01A-01D-0472-08	5097322	156882745	92367876	3	7234											
TTC15	51112	broad.mit.edu	37	2	3469378	3469378	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr2:3469378T>C	ENST00000324266.5	+	9	1883	c.1688T>C	c.(1687-1689)cTg>cCg	p.L563P	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L563P	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	563					vesicle-mediated transport (GO:0016192)			p.L563P(1)									GATTATGTGCTGGCCGTGGAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	2											115	108	111					2																	3469378		2203	4300	6503	3448385	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1688T>C	2.37:g.3469378T>C	ENSP00000324318:p.Leu563Pro		3448385	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.028083	0.54790	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	T;T;T	0.63744	-0.06;-0.06;-0.06	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80909	0.4714	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.82741	-0.0307	10	0.48119	T	0.1	.	15.072	0.72046	0.0:0.0:0.0:1.0	.	552;563	E7ENL7;Q8WVT3	.;TPC12_HUMAN	P	563;552;563;61	ENSP00000371544:L563P;ENSP00000324318:L563P;ENSP00000396592:L61P	ENSP00000303612:L552P	L	+	2	0	TTC15	3448385	1.000000	0.71417	0.960000	0.40013	0.035000	0.12851	7.496000	0.81526	2.146000	0.66826	0.533000	0.62120	CTG		0.527	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		C	3469378	T	C	3469378	3	2	133	1	0	0	0	0	1	0	0	0	16682	1580	55	4	1718	4	TTC15	2	3469378	Missense_Mutation	SNP	T	TCGA-13-1487-01A-01D-0472-08		3469378	239729995	4	7235											
COL4A4	1286	broad.mit.edu	37	2	227942761	227942761	+	Silent	SNP	T	T	C			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr2:227942761T>C	ENST00000396625.3	-	25	2043	c.1836A>G	c.(1834-1836)aaA>aaG	p.K612K	COL4A4_ENST00000329662.7_Silent_p.K612K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	612	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.K612K(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGGAAATCCTTTACCACCTG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	2											36	38	37					2																	227942761		1830	4089	5919	227651005	SO:0001819	synonymous_variant	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1836A>G	2.37:g.227942761T>C			227651005	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	CCDS42828.1																																																																																				0.557	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		C	227942761	T	C	227942761	2	2	133	1	0	0	0	0	0	0	0	1	3693	1606	56	4		4	COL4A4	2	227942761	Silent	SNP	T	TCGA-13-1487-01A-01D-0472-08	224473383	227942761	15256612	5	7236											
STAC	6769	broad.mit.edu	37	3	36534720	36534720	+	Splice_Site	SNP	C	C	T	rs377372947		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr3:36534720C>T	ENST00000273183.3	+	6	1065	c.765C>T	c.(763-765)agC>agT	p.S255S	STAC_ENST00000457375.2_Splice_Site_p.S194S|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	255					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.S255S(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCAGCAACAGCGGTGAGTGAG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	3						C		1,4405	2.1+/-5.4	0,1,2202	107	107	107		765	-4.9	1	3		107	0,8600		0,0,4300	no	coding-synonymous-near-splice	STAC	NM_003149.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		255/403	36534720	1,13005	2203	4300	6503	36509724	SO:0001630	splice_region_variant	6769			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.766+1C>T	3.37:g.36534720C>T			36509724	B2R8S8	Silent	SNP	ENST00000273183.3	37	CCDS2662.1																																																																																				0.527	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	Silent	T	36534720	C	T	36534720	5	4	133	1	0	0	0	0	0	0	1	0	15241	782	27	1	787	1	STAC	3	36534720	Splice_Site	SNP	C	TCGA-13-1487-01A-01D-0472-08		36534720	161487710	6	7237											
CCNA2	890	broad.mit.edu	37	4	122742220	122742220	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr4:122742220T>G	ENST00000274026.5	-	3	787	c.484A>C	c.(484-486)Att>Ctt	p.I162L		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	162					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.I162L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TCTAATATAATTGACATGTCC	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											193	185	187					4																	122742220		2203	4299	6502	122961670	SO:0001583	missense	890				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.484A>C	4.37:g.122742220T>G	ENSP00000274026:p.Ile162Leu		122961670	A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	T	5.829	0.337143	0.11013	.	.	ENSG00000145386	ENST00000274026	T	0.13538	2.58	5.86	0.411	0.16392	.	0.665471	0.12795	U	0.438573	T	0.11239	0.0274	L	0.58101	1.795	0.21675	N	0.999594	B	0.02656	0.0	B	0.04013	0.001	T	0.46048	-0.9219	10	0.02654	T	1	.	9.5124	0.39085	0.0:0.3839:0.0:0.6161	.	162	P20248	CCNA2_HUMAN	L	162	ENSP00000274026:I162L	ENSP00000274026:I162L	I	-	1	0	CCNA2	122961670	0.000000	0.05858	0.546000	0.28166	0.983000	0.72400	-1.060000	0.03475	0.094000	0.17404	0.482000	0.46254	ATT		0.348	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		G	122742220	T	G	122742220	3	3	133	1	0	0	0	0	1	0	0	0	2910	1493	52	5	838	5	CCNA2	4	122742220	Missense_Mutation	SNP	T	TCGA-13-1487-01A-01D-0472-08		122742220	68412056	7	7238											
CDH9	1007	broad.mit.edu	37	5	26885780	26885780	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr5:26885780C>T	ENST00000231021.4	-	11	1997	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	609					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A609T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCAGGCCGGCTGAAAGGATC	0.498																																					Melanoma(8;187 585 15745 40864 52829)											1	Substitution - Missense(1)	ovary(1)	5											81	67	72					5																	26885780		2203	4300	6503	26921537	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1825G>A	5.37:g.26885780C>T	ENSP00000231021:p.Ala609Thr		26921537	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188394	0.57909	.	.	ENSG00000113100	ENST00000231021	T	0.56776	0.44	5.89	5.89	0.94794	.	0.048358	0.85682	D	0.000000	T	0.51244	0.1663	L	0.56280	1.765	0.58432	D	0.999999	B;B	0.20164	0.042;0.019	B;B	0.21151	0.022;0.033	T	0.40175	-0.9577	9	.	.	.	.	18.82	0.92092	0.0:1.0:0.0:0.0	.	202;609	B4DFP0;Q9ULB4	.;CADH9_HUMAN	T	609	ENSP00000231021:A609T	.	A	-	1	0	CDH9	26921537	1.000000	0.71417	0.186000	0.23195	0.641000	0.38312	4.944000	0.63561	2.797000	0.96272	0.563000	0.77884	GCC		0.498	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26885780	C	T	26885780	3	4	133	1	0	0	0	0	1	0	0	0	3117	797	28	2	552	2	CDH9	5	26885780	Missense_Mutation	SNP	C	TCGA-13-1487-01A-01D-0472-08		26885780	154029480	8	7239											
PARP8	79668	broad.mit.edu	37	5	50128649	50128649	+	Silent	SNP	C	C	T	rs201764927		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr5:50128649C>T	ENST00000281631.5	+	23	2426	c.2268C>T	c.(2266-2268)gaC>gaT	p.D756D	PARP8_ENST00000514342.2_Silent_p.D467D|PARP8_ENST00000514067.2_Silent_p.D714D|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.D756D|PARP8_ENST00000503750.2_Silent_p.D714D|PARP8_ENST00000505554.1_Silent_p.D735D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	756	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D756D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAGCCAAGGACGAGCCAGCTT	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		17340	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	5											163	137	146					5																	50128649		2203	4300	6503	50164406	SO:0001819	synonymous_variant	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2268C>T	5.37:g.50128649C>T			50164406	Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	CCDS3954.1																																																																																				0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		T	50128649	C	T	50128649	2	4	133	1	0	0	0	0	0	0	0	1	11465	535	19	1		1	PARP8	5	50128649	Silent	SNP	C	TCGA-13-1487-01A-01D-0472-08	23242869	50128649	130786611	9	7240											
WWC1	23286	broad.mit.edu	37	5	167891765	167891765	+	Missense_Mutation	SNP	G	G	A	rs139653620		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr5:167891765G>A	ENST00000265293.4	+	21	3450	c.2948G>A	c.(2947-2949)cGt>cAt	p.R983H	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.R989H	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	983	Interaction with PRKCZ.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.R983H(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGCTCCGAGCGTCTGATCCGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	5						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	54	53	53		2966,2966,2948	4.1	1	5	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	989/1120,989/1119,983/1114	167891765	1,13005	2203	4300	6503	167824343	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2948G>A	5.37:g.167891765G>A	ENSP00000265293:p.Arg983His		167824343	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760611	0.31137	0.0	1.16E-4	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.42131	0.98;0.98;0.98	4.99	4.12	0.48240	.	0.129675	0.56097	D	0.000032	T	0.30947	0.0781	L	0.33485	1.01	0.50632	D	0.999882	B;B	0.21821	0.061;0.01	B;B	0.16722	0.016;0.005	T	0.05971	-1.0853	10	0.18276	T	0.48	.	13.4327	0.61064	0.076:0.0:0.924:0.0	.	989;983	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	H	983;989;315	ENSP00000265293:R983H;ENSP00000427772:R989H;ENSP00000428084:R315H	ENSP00000265293:R983H	R	+	2	0	WWC1	167824343	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	5.504000	0.66968	1.106000	0.41623	0.442000	0.29010	CGT		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		A	167891765	G	A	167891765	3	1	133	1	0	0	0	0	1	0	0	0	17411	1145	40	1	3048	1	WWC1	5	167891765	Missense_Mutation	SNP	G	TCGA-13-1487-01A-01D-0472-08	117763116	167891765	13023495	10	7241											
ITPR3	3710	broad.mit.edu	37	6	33639804	33639804	+	Splice_Site	SNP	A	A	G			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr6:33639804A>G	ENST00000374316.5	+	23	3788		c.e23-1		ITPR3_ENST00000605930.1_Splice_Site			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.?(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCCCCTCCACAGGCAAGAATG	0.592																																																1	Unknown(1)	ovary(1)	6											69	64	66					6																	33639804		2203	4300	6503	33747782	SO:0001630	splice_region_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2729-1A>G	6.37:g.33639804A>G			33747782	Q14649|Q5TAQ2	Splice_Site	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766642	0.69878	.	.	ENSG00000096433	ENST00000374316	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5417	0.76057	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITPR3	33747782	1.000000	0.71417	0.998000	0.56505	0.656000	0.38851	8.710000	0.91388	2.072000	0.62099	0.533000	0.62120	.		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	Intron	G	33639804	A	G	33639804	5	3	133	1	0	0	0	0	0	0	1	0	7922	202	7	4	2813	4	ITPR3	6	33639804	Splice_Site	SNP	A	TCGA-13-1487-01A-01D-0472-08		33639804	137475263	11	7242											
C6orf142	90523	broad.mit.edu	37	6	53989390	53989390	+	Silent	SNP	A	A	C			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr6:53989390A>C	ENST00000274897.5	+	3	452	c.339A>C	c.(337-339)gcA>gcC	p.A113A	MLIP_ENST00000370876.2_Silent_p.A51A|MLIP_ENST00000509997.1_Silent_p.A61A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Silent_p.A124A|MLIP_ENST00000358276.5_Silent_p.A107A|MLIP_ENST00000514921.1_Silent_p.A113A|MLIP_ENST00000370877.2_Silent_p.A61A	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	113						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.A113A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AATTCGAAGCAAACAAACTTC	0.453																																																1	Substitution - coding silent(1)	ovary(1)	6											114	109	111					6																	53989390		2203	4300	6503	54097349	SO:0001819	synonymous_variant	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.339A>C	6.37:g.53989390A>C			54097349	B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	CCDS4954.1																																																																																				0.453	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		C	53989390	A	C	53989390	2	2	133	1	0	0	0	0	0	0	0	1	2333	117	5	5		5	C6orf142	6	53989390	Silent	SNP	A	TCGA-13-1487-01A-01D-0472-08	20349586	53989390	117125677	12	7243											
MTO1	25821	broad.mit.edu	37	6	74191780	74191780	+	Silent	SNP	C	C	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr6:74191780C>A	ENST00000370300.4	+	9	1443	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	MTO1_ENST00000498286.1_Silent_p.I426I|MTO1_ENST00000370305.1_Silent_p.I377I|MTO1_ENST00000415954.2_Silent_p.I466I	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	451					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)	p.I451I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TAGCCGGAATCAACGCCAGTC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	6											120	102	109					6																	74191780		2203	4300	6503	74248501	SO:0001819	synonymous_variant	25821			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1353C>A	6.37:g.74191780C>A			74248501	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	CCDS4979.1																																																																																				0.463	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		A	74191780	C	A	74191780	2	1	133	1	0	0	0	0	0	0	0	1	9953	816	29	3		3	MTO1	6	74191780	Silent	SNP	C	TCGA-13-1487-01A-01D-0472-08	20202390	74191780	96923287	13	7244											
SYNE1	23345	broad.mit.edu	37	6	152776693	152776693	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr6:152776693C>G	ENST00000367255.5	-	24	3361	c.2760G>C	c.(2758-2760)aaG>aaC	p.K920N	SYNE1_ENST00000423061.1_Missense_Mutation_p.K927N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K920N|SYNE1_ENST00000495090.2_Missense_Mutation_p.K487N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K920N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K910N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K920N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K986N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K927N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	920					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K920N(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCCACATGCTTCTTCCAAT	0.433										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											117	116	116					6																	152776693		2203	4300	6503	152818386	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2760G>C	6.37:g.152776693C>G	ENSP00000356224:p.Lys920Asn		152818386	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632238	0.67015	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.32;1.3;1.3;1.3;1.3	5.48	1.15	0.20763	.	0.000000	0.64402	D	0.000015	T	0.34948	0.0915	M	0.64997	1.995	0.80722	D	1	D;P;D;D;D;P;D	0.89917	1.0;0.944;0.995;0.995;0.999;0.944;0.998	D;P;P;D;D;P;D	0.71870	0.975;0.554;0.858;0.933;0.957;0.554;0.933	T	0.16600	-1.0397	10	0.21014	T	0.42	.	9.5335	0.39209	0.0:0.5086:0.0:0.4914	.	903;920;487;910;920;920;927	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	N	920;927;920;927;986;920;910;920;487	ENSP00000356224:K920N;ENSP00000396024:K927N;ENSP00000265368:K920N;ENSP00000390975:K927N;ENSP00000341887:K986N;ENSP00000356222:K920N;ENSP00000356217:K910N;ENSP00000414510:K920N;ENSP00000438508:K487N	ENSP00000265368:K920N	K	-	3	2	SYNE1	152818386	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	1.022000	0.30052	0.139000	0.18822	0.655000	0.94253	AAG		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152776693	C	G	152776693	3	3	133	1	0	0	0	0	1	0	0	0	15445	796	28	3	24198	3	SYNE1	6	152776693	Missense_Mutation	SNP	C	TCGA-13-1487-01A-01D-0472-08	78584913	152776693	18338374	14	7245											
ZNF713	349075	broad.mit.edu	37	7	55990969	55990969	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr7:55990969C>A	ENST00000429591.2	+	2	201	c.163C>A	c.(163-165)Cta>Ata	p.L55I	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.L55I	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L55I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTACAGGAATCTAGTTGCACT	0.502																																																1	Substitution - Missense(1)	ovary(1)	7											128	115	119					7																	55990969		2203	4300	6503	55958463	SO:0001583	missense	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.163C>A	7.37:g.55990969C>A	ENSP00000416662:p.Leu55Ile		55958463		Missense_Mutation	SNP	ENST00000429591.2	37	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301517	0.40694	.	.	ENSG00000249773;ENSG00000178665	ENST00000426595;ENST00000429591	T;T	0.03524	3.9;3.9	2.93	2.93	0.34026	Krueppel-associated box (4);	.	.	.	.	T	0.11922	0.0290	M	0.88512	2.96	0.20563	N	0.999888	P	0.46395	0.877	P	0.48488	0.579	T	0.06643	-1.0815	9	0.87932	D	0	.	8.1126	0.30924	0.0:0.7499:0.2501:0.0	.	55	Q8N859	ZN713_HUMAN	I	55	ENSP00000390331:L55I;ENSP00000416662:L55I	ENSP00000390331:L55I	L	+	1	2	RP11-15K19.2;ZNF713	55958463	0.199000	0.23386	0.596000	0.28811	0.482000	0.33219	0.285000	0.18883	1.935000	0.56089	0.561000	0.74099	CTA		0.502	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		A	55990969	C	A	55990969	3	1	133	1	0	0	0	0	1	0	0	0	18117	912	32	3	169	3	ZNF713	7	55990969	Missense_Mutation	SNP	C	TCGA-13-1487-01A-01D-0472-08		55990969	103147694	15	7246											
FAM190B	54462	broad.mit.edu	37	10	86131416	86131416	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr10:86131416T>C	ENST00000224756.8	+	2	793	c.608T>C	c.(607-609)tTa>tCa	p.L203S	CCSER2_ENST00000359979.4_Missense_Mutation_p.L203S|CCSER2_ENST00000372088.2_Missense_Mutation_p.L203S	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	203					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.L203S(1)									GGAGAAAGCTTAGCTCAATCC	0.408																																																1	Substitution - Missense(1)	ovary(1)	10											59	63	62					10																	86131416		2203	4300	6503	86121396	SO:0001583	missense	54462				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.608T>C	10.37:g.86131416T>C	ENSP00000224756:p.Leu203Ser		86121396	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707027	0.68615	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.64991	-0.13;1.25;1.16	6.11	6.11	0.99139	.	0.000000	0.56097	D	0.000038	T	0.76863	0.4047	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.988;0.999	T	0.78708	-0.2099	10	0.72032	D	0.01	-12.4573	14.6542	0.68820	0.0:0.0:0.0:1.0	.	203;203;203	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	S	203	ENSP00000353068:L203S;ENSP00000224756:L203S;ENSP00000361160:L203S	ENSP00000224756:L203S	L	+	2	0	FAM190B	86121396	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.299000	0.78831	2.343000	0.79666	0.533000	0.62120	TTA		0.408	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		C	86131416	T	C	86131416	3	2	133	1	0	0	0	0	1	0	0	0	5522	1764	61	4	610	4	FAM190B	10	86131416	Missense_Mutation	SNP	T	TCGA-13-1487-01A-01D-0472-08		86131416	49403331	16	7247											
MKI67	4288	broad.mit.edu	37	10	129907445	129907445	+	Silent	SNP	G	G	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr10:129907445G>A	ENST00000368654.3	-	13	3034	c.2659C>T	c.(2659-2661)Cta>Tta	p.L887L	MKI67_ENST00000368653.3_Silent_p.L527L|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	887					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.L887L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCACAGGTAGCTTCTGTATA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	10											228	215	220					10																	129907445		2203	4300	6503	129797435	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2659C>T	10.37:g.129907445G>A			129797435	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.408	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129907445	G	A	129907445	2	1	133	1	0	0	0	0	0	0	0	1	9598	962	34	2		2	MKI67	10	129907445	Silent	SNP	G	TCGA-13-1487-01A-01D-0472-08	43776029	129907445	5627302	17	7248											
ANO3	63982	broad.mit.edu	37	11	26681991	26681991	+	Silent	SNP	G	G	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr11:26681991G>A	ENST00000256737.3	+	27	3798	c.2946G>A	c.(2944-2946)taG>taA	p.*982*	ANO3_ENST00000537978.1_Silent_p.*966*|ANO3_ENST00000531568.1_Silent_p.*836*|ANO3_ENST00000525139.1_Silent_p.*966*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	0					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.*982*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGGCCTTAGTTGACACCTG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	11											99	98	98					11																	26681991		2203	4299	6502	26638567	SO:0001819	synonymous_variant	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2946G>A	11.37:g.26681991G>A			26638567	B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																				0.413	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		A	26681991	G	A	26681991	2	1	133	1	0	0	0	0	0	0	0	1	698	1024	36	2		2	ANO3	11	26681991	Silent	SNP	G	TCGA-13-1487-01A-01D-0472-08		26681991	108324525	18	7249											
CARD17	440068	broad.mit.edu	37	11	104972138	104972138	+	Missense_Mutation	SNP	C	C	G	rs553449901		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr11:104972138C>G	ENST00000375707.1	-	1	20	c.4G>C	c.(4-6)Gcc>Ccc	p.A2P	CASP1_ENST00000594519.1_Missense_Mutation_p.A2P|CARD16_ENST00000525374.1_Missense_Mutation_p.A2P|CASP1_ENST00000415981.2_Missense_Mutation_p.A2P|CASP1_ENST00000593315.1_Missense_Mutation_p.A2P|CASP1_ENST00000598974.1_Missense_Mutation_p.A2P	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	2	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.A2P(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GACTCACCGGCCATGGCTTTT	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											167	163	164					11																	104972138		2202	4299	6501	104477348	SO:0001583	missense	440068				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.4G>C	11.37:g.104972138C>G	ENSP00000364859:p.Ala2Pro		104477348		Missense_Mutation	SNP	ENST00000375707.1	37	CCDS31662.1	.	.	.	.	.	.	.	.	.	.	.	16.18	3.051361	0.55218	.	.	ENSG00000137752;ENSG00000204397;ENSG00000255221	ENST00000415981;ENST00000525374;ENST00000375707	T;T;T	0.29397	1.57;2.04;1.77	2.8	2.8	0.32819	DEATH-like (2);Caspase Recruitment (2);	0.792060	0.11479	N	0.559919	T	0.43166	0.1235	L	0.37850	1.14	0.24767	N	0.99289	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.87578	0.988;0.998;0.919	T	0.16041	-1.0416	10	0.87932	D	0	.	9.1471	0.36939	0.0:1.0:0.0:0.0	.	2;2;2	P29466-5;P29466-4;Q5XLA6	.;.;CAR17_HUMAN	P	2	ENSP00000408446:A2P;ENSP00000433700:A2P;ENSP00000364859:A2P	ENSP00000433700:A2P	A	-	1	0	CARD16;CARD17;CASP1	104477348	0.997000	0.39634	0.555000	0.28281	0.011000	0.07611	1.723000	0.38053	1.541000	0.49316	0.511000	0.50034	GCC		0.463	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		G	104972138	C	G	104972138	3	3	133	1	0	0	0	0	1	0	0	0	2648	739	26	3	340	3	CARD17	11	104972138	Missense_Mutation	SNP	C	TCGA-13-1487-01A-01D-0472-08	78290147	104972138	30034378	19	7250											
TUBA3C	7278	broad.mit.edu	37	13	19748092	19748092	+	Missense_Mutation	SNP	G	G	C	rs150743792	byFrequency	TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr13:19748092G>C	ENST00000400113.3	-	5	1368	c.1264C>G	c.(1264-1266)Cgc>Ggc	p.R422G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	422					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R422G(1)|p.R422C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGGTCCTCGCGGGCCTCAGAG	0.582																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	13											135	134	134					13																	19748092		2203	4300	6503	18646092	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1264C>G	13.37:g.19748092G>C	ENSP00000382982:p.Arg422Gly		18646092	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	5.467	0.271267	0.10349	.	.	ENSG00000198033	ENST00000400113	D	0.85258	-1.96	1.21	1.21	0.21127	.	0.000000	0.42964	U	0.000632	D	0.86594	0.5970	.	.	.	0.39043	D	0.960161	.	.	.	.	.	.	D	0.86641	0.1892	7	0.87932	D	0	.	8.3447	0.32266	0.0:0.0:1.0:0.0	.	.	.	.	G	422	ENSP00000382982:R422G	ENSP00000382982:R422G	R	-	1	0	TUBA3C	18646092	1.000000	0.71417	0.991000	0.47740	0.219000	0.24729	3.313000	0.51935	0.976000	0.38417	0.184000	0.17185	CGC		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		C	19748092	G	C	19748092	3	2	133	1	0	0	0	0	1	0	0	0	16746	1116	39	3	92	3	TUBA3C	13	19748092	Missense_Mutation	SNP	G	TCGA-13-1487-01A-01D-0472-08		19748092	95421786	20	7251											
DYNC1H1	1778	broad.mit.edu	37	14	102516871	102516871	+	Missense_Mutation	SNP	C	C	T	rs200224597		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr14:102516871C>T	ENST00000360184.4	+	78	14076	c.13912C>T	c.(13912-13914)Cgg>Tgg	p.R4638W	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4638					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R4638W(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTCTACGAGCGGGGTGTCGC	0.433																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	14											131	131	131					14																	102516871		2203	4300	6503	101586624	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13912C>T	14.37:g.102516871C>T	ENSP00000348965:p.Arg4638Trp		101586624	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248250	0.95305	.	.	ENSG00000197102	ENST00000360184	T	0.09817	2.94	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52109	-0.8619	10	0.87932	D	0	.	19.652	0.95819	0.0:1.0:0.0:0.0	.	4638	Q14204	DYHC1_HUMAN	W	4638	ENSP00000348965:R4638W	ENSP00000348965:R4638W	R	+	1	2	DYNC1H1	101586624	1.000000	0.71417	0.998000	0.56505	0.749000	0.42624	7.526000	0.81920	2.656000	0.90262	0.561000	0.74099	CGG		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		T	102516871	C	T	102516871	3	4	133	1	0	0	0	0	1	0	0	0	4841	759	27	1	14222	1	DYNC1H1	14	102516871	Missense_Mutation	SNP	C	TCGA-13-1487-01A-01D-0472-08		102516871	4832669	21	7252											
HYDIN	54768	broad.mit.edu	37	16	70954718	70954718	+	Missense_Mutation	SNP	T	T	G	rs375727122|rs67115747|rs76335688		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr16:70954718T>G	ENST00000393567.2	-	46	7711	c.7561A>C	c.(7561-7563)Acg>Ccg	p.T2521P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2521					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.T151P(1)|p.T2472P(1)|p.T151L(1)|p.T2472L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				tccttctccgtgcgctccttc	0.716																																																4	Substitution - Missense(4)	ovary(4)	16											17	18	18					16																	70954718		1924	4091	6015	69512219	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7561A>C	16.37:g.70954718T>G	ENSP00000377197:p.Thr2521Pro		69512219	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.979	0.550588	0.13374	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	5.72	4.77	0.60923	.	1.225580	0.06646	U	0.761960	T	0.00695	0.0023	N	0.08118	0	0.27981	N	0.936014	P	0.37864	0.61	B	0.26416	0.069	T	0.50533	-0.8817	10	0.31617	T	0.26	.	9.1845	0.37163	0.0:0.7738:0.1465:0.0797	.	2520	F8WD23	.	P	2521;2520	ENSP00000377197:T2521P	ENSP00000313052:T2520P	T	-	1	0	HYDIN	69512219	0.586000	0.26782	0.145000	0.22337	0.073000	0.16967	1.943000	0.40253	1.415000	0.47037	-0.231000	0.12243	ACG		0.716	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	70954718	T	G	70954718	3	3	133	1	0	0	0	0	1	0	0	0	7467	1696	59	5	7968	5	HYDIN	16	70954718	Missense_Mutation	SNP	T	TCGA-13-1487-01A-01D-0472-08		70954718	19400035	22	7253											
TP53	7157	broad.mit.edu	37	17	7577571	7577571	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr17:7577571A>T	ENST00000269305.4	-	7	899	c.710T>A	c.(709-711)aTg>aAg	p.M237K	TP53_ENST00000420246.2_Missense_Mutation_p.M237K|TP53_ENST00000445888.2_Missense_Mutation_p.M237K|TP53_ENST00000413465.2_Missense_Mutation_p.M237K|TP53_ENST00000455263.2_Missense_Mutation_p.M237K|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.M237K	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237K(11)|p.0?(8)|p.?(5)|p.M237_N239delMCN(4)|p.M237R(3)|p.M237T(2)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144K(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233_C242del10(1)|p.M237fs*1(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)	ACTGTTACACATGTAGTTGTA	0.572		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"	43	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Unknown(5)	ovary(6)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(4)|endometrium(4)|bone(4)|upper_aerodigestive_tract(3)|lung(3)|breast(3)|central_nervous_system(2)|pancreas(2)|stomach(1)|urinary_tract(1)|prostate(1)	17											130	102	111					17																	7577571		2203	4300	6503	7518296	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.710T>A	17.37:g.7577571A>T	ENSP00000269305:p.Met237Lys		7518296	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	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483121	0.84747	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.09	4.09	0.47781	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	0.99822	0.9921	M	0.91300	3.195	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.927;1.0;1.0;0.998;1.0	D;P;D;D;D;D	0.97110	0.999;0.754;1.0;1.0;0.999;1.0	D	0.96819	0.9602	10	0.87932	D	0	-32.6033	11.6823	0.51466	1.0:0.0:0.0:0.0	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	K	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237K;ENSP00000352610:M237K;ENSP00000269305:M237K;ENSP00000398846:M237K;ENSP00000391127:M237K;ENSP00000391478:M237K;ENSP00000425104:M105K;ENSP00000423862:M144K	ENSP00000269305:M237K	M	-	2	0	TP53	7518296	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.021000	0.93673	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577571	A	T	7577571	3	4	133	1	0	0	0	0	1	0	0	0	16381	217	8	5	580	5	TP53	17	7577571	Missense_Mutation	SNP	A	TCGA-13-1487-01A-01D-0472-08		7577571	73617639	23	7254											
SLC5A10	125206	broad.mit.edu	37	17	18872683	18872683	+	Silent	SNP	C	C	T	rs200235814		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr17:18872683C>T	ENST00000395645.3	+	7	606	c.588C>T	c.(586-588)gaC>gaT	p.D196D	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Silent_p.D196D|SLC5A10_ENST00000417251.2_Silent_p.D196D	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	196					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D196D(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TCTACACGGACGCCCTGCAGA	0.647																																																1	Substitution - coding silent(1)	ovary(1)	17						C	,	1,4317		0,1,2158	51	59	56		588,588	-9.9	0	17		56	0,8548		0,0,4274	no	coding-synonymous,coding-synonymous	SLC5A10	NM_001042450.1,NM_152351.3	,	0,1,6432	TT,TC,CC		0.0,0.0232,0.0078	,	196/597,196/613	18872683	1,12865	2159	4274	6433	18813408	SO:0001819	synonymous_variant	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.588C>T	17.37:g.18872683C>T			18813408	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.647	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		T	18872683	C	T	18872683	2	4	133	1	0	0	0	0	0	0	0	1	14665	535	19	1		1	SLC5A10	17	18872683	Silent	SNP	C	TCGA-13-1487-01A-01D-0472-08	11295112	18872683	62322527	24	7255											
ALDOC	230	broad.mit.edu	37	17	26900842	26900842	+	Missense_Mutation	SNP	G	G	A	rs376690171		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr17:26900842G>A	ENST00000226253.4	-	8	1385	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PIGS_ENST00000395346.2_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000543734.1_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.R304C|PIGS_ENST00000308360.7_5'Flank|ALDOC_ENST00000395319.3_Missense_Mutation_p.R276C	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	304					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)	p.R304C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGCAGGGCACGCCCATAGGAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	17						G	CYS/ARG	0,4406		0,0,2203	95	98	97		910	5.5	1	17		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALDOC	NM_005165.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	304/365	26900842	1,13005	2203	4300	6503	23924969	SO:0001583	missense	230			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.910C>T	17.37:g.26900842G>A	ENSP00000226253:p.Arg304Cys		23924969	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365169	0.82463	0.0	1.16E-4	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.92752	-3.1;-3.1;-3.1	5.46	5.46	0.80206	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.98423	1.0578	10	0.87932	D	0	-5.7612	18.0813	0.89442	0.0:0.0:1.0:0.0	.	276;304	A8MVZ9;P09972	.;ALDOC_HUMAN	C	276;304;304	ENSP00000378729:R276C;ENSP00000226253:R304C;ENSP00000378731:R304C	ENSP00000226253:R304C	R	-	1	0	ALDOC	23924969	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.780000	0.75063	2.573000	0.86826	0.462000	0.41574	CGT		0.612	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			A	26900842	G	A	26900842	3	1	133	1	0	0	0	0	1	0	0	0	509	1087	38	1	192	1	ALDOC	17	26900842	Missense_Mutation	SNP	G	TCGA-13-1487-01A-01D-0472-08	8028159	26900842	54294368	25	7256											
JUP	3728	broad.mit.edu	37	17	39919263	39919263	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr17:39919263T>C	ENST00000393931.3	-	8	1587	c.1469A>G	c.(1468-1470)aAc>aGc	p.N490S	JUP_ENST00000310706.5_Missense_Mutation_p.N490S|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.N490S	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	490					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.N490S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GTTGGGCTGGTTGAGCAGCTT	0.602																																					Colon(16;42 520 6044 17852 28530)											1	Substitution - Missense(1)	ovary(1)	17											61	55	57					17																	39919263		2203	4300	6503	37172789	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1469A>G	17.37:g.39919263T>C	ENSP00000377508:p.Asn490Ser		37172789	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802848	0.50315	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.63913	-0.07;-0.07;-0.07	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.119302	0.85682	D	0.000000	T	0.52141	0.1716	L	0.31845	0.965	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.50381	-0.8835	10	0.51188	T	0.08	-46.6752	14.3357	0.66589	0.0:0.0:0.0:1.0	.	490	P14923	PLAK_HUMAN	S	490	ENSP00000377507:N490S;ENSP00000311113:N490S;ENSP00000377508:N490S	ENSP00000311113:N490S	N	-	2	0	JUP	37172789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.714000	0.84703	2.165000	0.68154	0.459000	0.35465	AAC		0.602	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			C	39919263	T	C	39919263	3	2	133	1	0	0	0	0	1	0	0	0	7972	1725	60	4	796	4	JUP	17	39919263	Missense_Mutation	SNP	T	TCGA-13-1487-01A-01D-0472-08	13018421	39919263	41275947	26	7257											
EPB41L3	23136	broad.mit.edu	37	18	5434019	5434019	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr18:5434019T>A	ENST00000341928.2	-	7	1047	c.707A>T	c.(706-708)gAg>gTg	p.E236V	EPB41L3_ENST00000540638.2_Missense_Mutation_p.E236V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E236V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E236V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E236V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	236	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.E236V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTCTCCGAGCTCTGACTGGAC	0.517																																																1	Substitution - Missense(1)	ovary(1)	18											160	143	149					18																	5434019		2203	4300	6503	5424019	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.707A>T	18.37:g.5434019T>A	ENSP00000343158:p.Glu236Val		5424019	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.891869	0.91889	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;T;T;T;T	0.77750	-0.98;-1.12;-0.98;-0.98;-0.98	6.16	6.16	0.99307	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.042122	0.85682	D	0.000000	D	0.90584	0.7048	M	0.91300	3.195	0.80722	D	1	D;D;P;P;P	0.64830	0.994;0.977;0.908;0.888;0.885	D;P;P;P;P	0.74023	0.982;0.813;0.6;0.465;0.768	D	0.92369	0.5904	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	236;236;127;236;236	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	V	236;127;236;127;236;236	ENSP00000343158:E236V;ENSP00000442091:E127V;ENSP00000441174:E236V;ENSP00000341138:E236V;ENSP00000382981:E236V	ENSP00000343158:E236V	E	-	2	0	EPB41L3	5424019	1.000000	0.71417	0.991000	0.47740	0.879000	0.50718	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAG		0.517	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5434019	T	A	5434019	3	1	133	1	0	0	0	0	1	0	0	0	5154	1551	54	5	2620	5	EPB41L3	18	5434019	Missense_Mutation	SNP	T	TCGA-13-1487-01A-01D-0472-08		5434019	72643229	27	7258											
NOL4	8715	broad.mit.edu	37	18	31523137	31523137	+	Silent	SNP	T	T	C			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr18:31523137T>C	ENST00000261592.5	-	9	1731	c.1434A>G	c.(1432-1434)cgA>cgG	p.R478R	NOL4_ENST00000535384.1_Silent_p.R193R|NOL4_ENST00000538587.1_Silent_p.R404R|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Silent_p.R259R|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	478						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.R478R(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AAGGAATAGGTCGAGACTAAA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	18											65	61	62					18																	31523137		2203	4300	6503	29777135	SO:0001819	synonymous_variant	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1434A>G	18.37:g.31523137T>C			29777135	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	CCDS11907.2																																																																																				0.403	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		C	31523137	T	C	31523137	2	2	133	1	0	0	0	0	0	0	0	1	10524	1654	58	4		4	NOL4	18	31523137	Silent	SNP	T	TCGA-13-1487-01A-01D-0472-08	26089118	31523137	46554111	28	7259											
SERPINB13	5275	broad.mit.edu	37	18	61260156	61260156	+	Silent	SNP	C	C	T	rs150453343		TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr18:61260156C>T	ENST00000344731.5	+	5	525	c.423C>T	c.(421-423)gcC>gcT	p.A141A	SERPINB13_ENST00000269489.5_Silent_p.A141A	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	141					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A141A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TAAATGCAGCCGATGAAAGTC	0.328																																																1	Substitution - coding silent(1)	ovary(1)	18						C		0,4406		0,0,2203	103	113	109		423	-4.9	1	18	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINB13	NM_012397.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/392	61260156	1,13005	2203	4300	6503	59411136	SO:0001819	synonymous_variant	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.423C>T	18.37:g.61260156C>T			59411136	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Silent	SNP	ENST00000344731.5	37	CCDS11985.1																																																																																				0.328	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		T	61260156	C	T	61260156	2	4	133	1	0	0	0	0	0	0	0	1	14103	639	23	1		1	SERPINB13	18	61260156	Silent	SNP	C	TCGA-13-1487-01A-01D-0472-08	29737019	61260156	16817092	29	7260											
MED26	9441	broad.mit.edu	37	19	16686872	16686872	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr19:16686872C>T	ENST00000263390.3	-	3	2031	c.1769G>A	c.(1768-1770)cGc>cAc	p.R590H	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	590					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.R590H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AATGTTCAAGCGCCCGTCGTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											55	51	53					19																	16686872		2203	4300	6503	16547872	SO:0001583	missense	9441			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1769G>A	19.37:g.16686872C>T	ENSP00000263390:p.Arg590His		16547872	A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680963	0.47886	.	.	ENSG00000105085	ENST00000263390	T	0.53206	0.63	5.28	3.16	0.36331	.	0.285477	0.38381	N	0.001710	T	0.41373	0.1156	L	0.56769	1.78	0.42344	D	0.992342	B	0.26445	0.149	B	0.19148	0.024	T	0.44787	-0.9305	10	0.62326	D	0.03	-18.4314	10.0982	0.42488	0.0:0.8385:0.0:0.1615	.	590	O95402	MED26_HUMAN	H	590	ENSP00000263390:R590H	ENSP00000263390:R590H	R	-	2	0	MED26	16547872	0.997000	0.39634	0.993000	0.49108	0.329000	0.28539	2.299000	0.43611	1.224000	0.43551	0.591000	0.81541	CGC		0.622	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		T	16686872	C	T	16686872	3	4	133	1	0	0	0	0	1	0	0	0	9444	768	27	1	37	1	MED26	19	16686872	Missense_Mutation	SNP	C	TCGA-13-1487-01A-01D-0472-08		16686872	42442111	30	7261											
NLRP11	204801	broad.mit.edu	37	19	56307535	56307535	+	Silent	SNP	C	C	G			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr19:56307535C>G	ENST00000589093.1	-	6	2346	c.2253G>C	c.(2251-2253)ctG>ctC	p.L751L	NLRP11_ENST00000443188.1_Silent_p.L751L|NLRP11_ENST00000360133.3_Silent_p.L697L|NLRP11_ENST00000589824.2_Silent_p.L697L|NLRP11_ENST00000592953.1_Silent_p.L652L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	751							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.L751L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGGATAAGGTCAGTTTTCTCA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	19											139	126	131					19																	56307535		2203	4300	6503	60999347	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2253G>C	19.37:g.56307535C>G			60999347	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																				0.478	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		G	56307535	C	G	56307535	2	3	133	1	0	0	0	0	0	0	0	1	10473	813	29	3		3	NLRP11	19	56307535	Silent	SNP	C	TCGA-13-1487-01A-01D-0472-08	39620663	56307535	2821448	31	7262											
ZNF773	374928	broad.mit.edu	37	19	58016146	58016146	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr19:58016146C>A	ENST00000282292.4	+	2	295	c.155C>A	c.(154-156)gCc>gAc	p.A52D	ZNF773_ENST00000598770.1_Missense_Mutation_p.A51D|ZNF773_ENST00000599847.1_Missense_Mutation_p.A52D|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Missense_Mutation_p.A51D	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A52D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ACACTTCTGGCCTCTCTGGGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	19											85	72	76					19																	58016146		2203	4298	6501	62707958	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.155C>A	19.37:g.58016146C>A	ENSP00000282292:p.Ala52Asp		62707958	Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848849	0.32699	.	.	ENSG00000152439	ENST00000332030;ENST00000282292	T	0.01933	4.55	1.39	1.39	0.22231	Krueppel-associated box (4);	.	.	.	.	T	0.08358	0.0208	M	0.64630	1.985	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.973;0.999	T	0.10222	-1.0639	9	0.87932	D	0	.	8.7069	0.34360	0.0:1.0:0.0:0.0	.	51;52	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	D	75;52	ENSP00000282292:A52D	ENSP00000282292:A52D	A	+	2	0	ZNF773	62707958	0.000000	0.05858	0.089000	0.20774	0.503000	0.33858	-0.320000	0.08028	1.084000	0.41184	0.305000	0.20034	GCC		0.532	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		A	58016146	C	A	58016146	3	1	133	1	0	0	0	0	1	0	0	0	18146	739	26	3	161	3	ZNF773	19	58016146	Missense_Mutation	SNP	C	TCGA-13-1487-01A-01D-0472-08	1708611	58016146	1112837	32	7263											
INSM1	3642	broad.mit.edu	37	20	20350306	20350306	+	Silent	SNP	C	C	G	rs531505955	byFrequency	TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr20:20350306C>G	ENST00000310227.1	+	1	1542	c.1395C>G	c.(1393-1395)gcC>gcG	p.A465A		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	465					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A465A(1)		liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		TGCTGCACGCCGCCCAGGTGT	0.667																																																1	Substitution - coding silent(1)	ovary(1)	20											19	22	21					20																	20350306		2184	4283	6467	20298306	SO:0001819	synonymous_variant	3642				CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1395C>G	20.37:g.20350306C>G			20298306		Silent	SNP	ENST00000310227.1	37	CCDS13143.1																																																																																				0.667	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		G	20350306	C	G	20350306	2	3	133	1	0	0	0	0	0	0	0	1	7771	639	23	3		3	INSM1	20	20350306	Silent	SNP	C	TCGA-13-1487-01A-01D-0472-08		20350306	42675214	33	7264											
CST3	1471	broad.mit.edu	37	20	23615890	23615890	+	Splice_Site	SNP	C	C	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr20:23615890C>A	ENST00000398411.1	-	2	440		c.e2+1		CST3_ENST00000398409.1_Splice_Site|RP11-218C14.8_ENST00000602977.1_lincRNA|CST3_ENST00000376925.3_Splice_Site			P01034	CYTC_HUMAN	cystatin C						apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)	p.?(1)		large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AAGGCACATACCCTTTTCAGA	0.542																																																1	Unknown(1)	ovary(1)	20											191	153	166					20																	23615890		2203	4300	6503	23563890	SO:0001630	splice_region_variant	1471				CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"cystatin C (amyloid angiopathy and cerebral hemorrhage)"			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.357+1G>T	20.37:g.23615890C>A			23563890	B2R5J9|D3DW42|Q6FGW9	Splice_Site	SNP	ENST00000398411.1	37	CCDS13158.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968670	0.53614	.	.	ENSG00000101439	ENST00000398411;ENST00000376925;ENST00000398409	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1373	0.53979	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CST3	23563890	1.000000	0.71417	0.938000	0.37757	0.846000	0.48090	3.570000	0.53834	1.988000	0.58038	0.484000	0.47621	.		0.542	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099	Intron	A	23615890	C	A	23615890	5	1	133	1	0	0	0	0	0	0	1	0	3973	521	18	3	90	3	CST3	20	23615890	Splice_Site	SNP	C	TCGA-13-1487-01A-01D-0472-08	3265584	23615890	39409630	34	7265											
ZNF335	63925	broad.mit.edu	37	20	44596990	44596990	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr20:44596990C>G	ENST00000322927.2	-	4	554	c.454G>C	c.(454-456)Gtg>Ctg	p.V152L	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	152					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.V152L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCACTGGTCACAGTGATGCAG	0.647																																																1	Substitution - Missense(1)	ovary(1)	20											122	108	112					20																	44596990		2203	4300	6503	44030397	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.454G>C	20.37:g.44596990C>G	ENSP00000325326:p.Val152Leu		44030397	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937187	0.73557	.	.	ENSG00000198026	ENST00000322927	T	0.15718	2.4	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	T	0.30293	0.0760	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.03423	-1.1038	10	0.56958	D	0.05	-9.3284	17.4845	0.87683	0.0:1.0:0.0:0.0	.	152	Q9H4Z2	ZN335_HUMAN	L	152	ENSP00000325326:V152L	ENSP00000325326:V152L	V	-	1	0	ZNF335	44030397	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	5.241000	0.65384	2.608000	0.88229	0.561000	0.74099	GTG		0.647	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		G	44596990	C	G	44596990	3	3	133	1	0	0	0	0	1	0	0	0	17852	478	17	3	3674	3	ZNF335	20	44596990	Missense_Mutation	SNP	C	TCGA-13-1487-01A-01D-0472-08	20981100	44596990	18428530	35	7266											
SLC12A5	57468	broad.mit.edu	37	20	44678386	44678386	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1487-01A-01D-0472-08	TCGA-13-1487-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	95f2cc6f-3f90-4dfa-8ad8-6b9446067910	d3779ede-842c-465a-b090-29e68d24f295	g.chr20:44678386G>A	ENST00000454036.2	+	17	2256	c.2207G>A	c.(2206-2208)gGc>gAc	p.G736D	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G713D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	736					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.G713D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCCTTGAGGGCACCTTTCTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	20											47	33	38					20																	44678386		2203	4300	6503	44111793	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2207G>A	20.37:g.44678386G>A	ENSP00000387694:p.Gly736Asp		44111793	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883633	0.91740	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.95980	-3.87;-3.87	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.967;0.996	D	0.99537	1.0962	10	0.87932	D	0	.	15.7912	0.78367	0.0:0.0:1.0:0.0	.	736;713	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	D	736;713	ENSP00000387694:G736D;ENSP00000243964:G713D	ENSP00000243964:G713D	G	+	2	0	SLC12A5	44111793	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.657000	0.98554	2.282000	0.76494	0.467000	0.42956	GGC		0.597	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			A	44678386	G	A	44678386	3	1	133	1	0	0	0	0	1	0	0	0	14389	1203	42	2	2329	2	SLC12A5	20	44678386	Missense_Mutation	SNP	G	TCGA-13-1487-01A-01D-0472-08	81396	44678386	18347134	36	7267											
KLHDC7A	127707	genome.wustl.edu	37	1	18807549	18807549	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:18807549C>G	ENST00000400664.1	+	1	126	c.74C>G	c.(73-75)gCc>gGc	p.A25G		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	25						integral component of membrane (GO:0016021)		p.A25G(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTGTCAGCCGCTGCCCTG	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											41	47	45					1																	18807549		2065	4219	6284	18680136	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.74C>G	1.37:g.18807549C>G	ENSP00000383505:p.Ala25Gly		18680136	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	13.82	2.349857	0.41599	.	.	ENSG00000179023	ENST00000400664	D	0.81908	-1.55	5.82	5.82	0.92795	.	.	.	.	.	T	0.82195	0.4984	N	0.19112	0.55	0.32944	D	0.518762	D	0.59767	0.986	P	0.53266	0.722	D	0.86326	0.1695	9	0.87932	D	0	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	25	Q5VTJ3	KLD7A_HUMAN	G	25	ENSP00000383505:A25G	ENSP00000383505:A25G	A	+	2	0	KLHDC7A	18680136	1.000000	0.71417	0.027000	0.17364	0.008000	0.06430	4.894000	0.63206	2.755000	0.94549	0.591000	0.81541	GCC		0.642	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		G	18807549	C	G	18807549	3	3	134	1	0	0	0	0	1	0	0	0	8360	739	26	3	76	3	KLHDC7A	1	18807549	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09		18807549	230443072	1	7268											
KDM1A	23028	genome.wustl.edu	37	1	23357064	23357064	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:23357064C>A	ENST00000356634.3	+	2	603	c.454C>A	c.(454-456)Ccc>Acc	p.P152T	KDM1A_ENST00000542151.1_Missense_Mutation_p.P152T|KDM1A_ENST00000400181.4_Missense_Mutation_p.P152T|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	152	Poly-Pro.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P152T(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAGAAGCTTCCCCCACCACC	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											107	113	111					1																	23357064		2203	4300	6503	23229651	SO:0001583	missense	23028			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.454C>A	1.37:g.23357064C>A	ENSP00000349049:p.Pro152Thr		23229651	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584755	0.65992	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.32515	1.45;1.58;1.58	5.84	5.84	0.93424	.	0.205265	0.32175	U	0.006474	T	0.40719	0.1128	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.28808	-1.0032	10	0.37606	T	0.19	-11.943	19.1204	0.93360	0.0:1.0:0.0:0.0	.	152;152	O60341-2;O60341	.;KDM1A_HUMAN	T	152	ENSP00000349049:P152T;ENSP00000383042:P152T;ENSP00000439072:P152T	ENSP00000349049:P152T	P	+	1	0	KDM1A	23229651	1.000000	0.71417	0.979000	0.43373	0.947000	0.59692	6.005000	0.70716	2.765000	0.95021	0.484000	0.47621	CCC		0.458	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		A	23357064	C	A	23357064	3	1	134	1	0	0	0	0	1	0	0	0	8122	855	30	3	460	3	KDM1A	1	23357064	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	4549515	23357064	225893557	2	7269											
PIGV	55650	genome.wustl.edu	37	1	27121257	27121257	+	Silent	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:27121257G>T	ENST00000374145.1	+	3	1414	c.732G>T	c.(730-732)tcG>tcT	p.S244S	PIGV_ENST00000078527.4_Silent_p.S244S|PIGV_ENST00000449950.2_Intron	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	244					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.S244S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TGTTTCTGTCGGTGTTCACAC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	1											136	142	140					1																	27121257		2203	4300	6503	26993844	SO:0001819	synonymous_variant	55650			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	26031	protein-coding gene	gene with protein product	"GPI mannosyltransferase 2", "dol-P-Man dependent GPI mannosyltransferase"	610274	"phosphatidylinositol glycan, class V"			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.732G>T	1.37:g.27121257G>T			26993844	D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	ENST00000374145.1	37	CCDS287.1																																																																																				0.502	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		T	27121257	G	T	27121257	2	4	134	1	0	0	0	0	0	0	0	1	11901	1103	39	3		3	PIGV	1	27121257	Silent	SNP	G	TCGA-13-1488-01A-01W-0549-09	3764193	27121257	222129364	3	7270											
OSCP1	127700	genome.wustl.edu	37	1	36883824	36883824	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:36883824G>C	ENST00000356637.5	-	11	1149	c.1086C>G	c.(1084-1086)atC>atG	p.I362M	SNORA63_ENST00000364578.1_RNA|OSCP1_ENST00000235532.5_Missense_Mutation_p.I352M|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000433045.2_Missense_Mutation_p.I307M|OSCP1_ENST00000315643.9_Intron			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	362					transport (GO:0006810)	plasma membrane (GO:0005886)		p.I362M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						ACTCCCCCATGATTCGAGCCA	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											93	70	78					1																	36883824		2203	4300	6503	36656411	SO:0001583	missense	127700				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.1086C>G	1.37:g.36883824G>C	ENSP00000349052:p.Ile362Met		36656411	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37		.	.	.	.	.	.	.	.	.	.	G	17.90	3.502652	0.64298	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045	T;T;T	0.39406	1.53;1.54;1.08	5.58	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.66506	2.035	0.80722	D	1	D;D	0.62365	0.991;0.985	P;P	0.59643	0.861;0.8	T	0.56177	-0.8022	10	0.72032	D	0.01	.	9.6916	0.40131	0.1602:0.0:0.8398:0.0	.	352;362	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	M	352;362;307	ENSP00000235532:I352M;ENSP00000349052:I362M;ENSP00000390820:I307M	ENSP00000235532:I352M	I	-	3	3	OSCP1	36656411	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.056000	0.64287	0.721000	0.32231	-0.145000	0.13849	ATC		0.557	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		C	36883824	G	C	36883824	3	2	134	1	0	0	0	0	1	0	0	0	11286	1280	45	3	87	3	OSCP1	1	36883824	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	9762567	36883824	212366797	4	7271											
DMBX1	127343	genome.wustl.edu	37	1	46977890	46977890	+	Silent	SNP	G	G	A	rs373688410		TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:46977890G>A	ENST00000360032.3	+	4	872	c.858G>A	c.(856-858)ccG>ccA	p.P286P	DMBX1_ENST00000371956.4_Silent_p.P291P	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.P291P(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TAGGGGGTCCGGCCCCTGCTG	0.657																																																1	Substitution - coding silent(1)	ovary(1)	1						G	,	1,4405		0,1,2202	30	33	32		873,858	-10.9	0	1		32	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	DMBX1	NM_147192.2,NM_172225.1	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	291/383,286/378	46977890	1,13003	2203	4299	6502	46750477	SO:0001819	synonymous_variant	127343			AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.858G>A	1.37:g.46977890G>A			46750477		Silent	SNP	ENST00000360032.3	37	CCDS536.1																																																																																				0.657	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			A	46977890	G	A	46977890	2	1	134	1	0	0	0	0	0	0	0	1	4578	1103	39	1		1	DMBX1	1	46977890	Silent	SNP	G	TCGA-13-1488-01A-01W-0549-09	10094066	46977890	202272731	5	7272											
CACHD1	57685	genome.wustl.edu	37	1	65130219	65130219	+	Silent	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:65130219C>G	ENST00000371073.2	+	15	2133	c.2133C>G	c.(2131-2133)gtC>gtG	p.V711V	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.V660V			Q5VU97	CAHD1_HUMAN	cache domain containing 1	711					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.V660V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCAGCCACGTCACAGATGAAT	0.443																																																1	Substitution - coding silent(1)	ovary(1)	1											129	114	119					1																	65130219		2203	4300	6503	64902807	SO:0001819	synonymous_variant	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2133C>G	1.37:g.65130219C>G			64902807	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37																																																																																					0.443	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		G	65130219	C	G	65130219	2	3	134	1	0	0	0	0	0	0	0	1	2537	813	29	3		3	CACHD1	1	65130219	Silent	SNP	C	TCGA-13-1488-01A-01W-0549-09	18152329	65130219	184120402	6	7273											
ZZZ3	26009	genome.wustl.edu	37	1	78045289	78045289	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:78045289T>C	ENST00000370801.3	-	10	2480	c.2005A>G	c.(2005-2007)Aaa>Gaa	p.K669E	ZZZ3_ENST00000370798.1_Missense_Mutation_p.K175E|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	669	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K669E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GGAGGGTATTTGATGAGTAGC	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											183	177	179					1																	78045289		2203	4300	6503	77817877	SO:0001583	missense	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2005A>G	1.37:g.78045289T>C	ENSP00000359837:p.Lys669Glu		77817877	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164087	0.78339	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.44482	0.92;0.92	5.43	5.43	0.79202	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	L	0.33293	1	0.80722	D	1	D;D;D	0.89917	0.996;0.96;1.0	D;P;D	0.85130	0.99;0.832;0.997	T	0.47407	-0.9120	10	0.52906	T	0.07	.	15.8052	0.78501	0.0:0.0:0.0:1.0	.	175;669;668	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	E	669;175	ENSP00000359837:K669E;ENSP00000359834:K175E	ENSP00000359834:K175E	K	-	1	0	ZZZ3	77817877	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.543000	0.82106	2.195000	0.70347	0.528000	0.53228	AAA		0.363	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		C	78045289	T	C	78045289	3	2	134	1	0	0	0	0	1	0	0	0	18256	1821	63	4	730	4	ZZZ3	1	78045289	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	12915070	78045289	171205332	7	7274											
MCOLN2	255231	genome.wustl.edu	37	1	85422116	85422116	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:85422116A>G	ENST00000370608.3	-	4	630	c.563T>C	c.(562-564)cTc>cCc	p.L188P	MCOLN2_ENST00000284027.5_Missense_Mutation_p.L160P|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	188					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L188P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TGCATTACCGAGCTCAACGTC	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											213	194	200					1																	85422116		2203	4300	6503	85194704	SO:0001583	missense	255231			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.563T>C	1.37:g.85422116A>G	ENSP00000359640:p.Leu188Pro		85194704	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	A	5.181	0.218883	0.09810	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.54479	0.57;0.57	5.06	-9.48	0.00591	.	0.823226	0.11116	N	0.597903	T	0.13114	0.0318	N	0.08118	0	0.38858	D	0.956419	B	0.02656	0.0	B	0.01281	0.0	T	0.29212	-1.0019	10	0.36615	T	0.2	-16.023	17.2315	0.86985	0.174:0.1013:0.7248:0.0	.	188	Q8IZK6	MCLN2_HUMAN	P	188;160	ENSP00000359640:L188P;ENSP00000284027:L160P	ENSP00000284027:L160P	L	-	2	0	MCOLN2	85194704	0.118000	0.22208	0.083000	0.20561	0.006000	0.05464	-0.105000	0.10907	-2.108000	0.00839	-0.911000	0.02809	CTC		0.398	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		G	85422116	A	G	85422116	3	3	134	1	0	0	0	0	1	0	0	0	9396	304	11	4	1181	4	MCOLN2	1	85422116	Missense_Mutation	SNP	A	TCGA-13-1488-01A-01W-0549-09	7376827	85422116	163828505	8	7275											
LRRC8D	55144	genome.wustl.edu	37	1	90400055	90400055	+	Silent	SNP	G	G	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:90400055G>C	ENST00000337338.5	+	3	1835	c.1428G>C	c.(1426-1428)ctG>ctC	p.L476L	LRRC8D_ENST00000394593.3_Silent_p.L476L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	476					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L476L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGTTGCATCTGTTCATGCTGT	0.443																																																1	Substitution - coding silent(1)	ovary(1)	1											52	51	52					1																	90400055		2203	4300	6503	90172643	SO:0001819	synonymous_variant	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1428G>C	1.37:g.90400055G>C			90172643	D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	CCDS726.1																																																																																				0.443	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		C	90400055	G	C	90400055	2	2	134	1	0	0	0	0	0	0	0	1	9024	1364	48	3		3	LRRC8D	1	90400055	Silent	SNP	G	TCGA-13-1488-01A-01W-0549-09	4977939	90400055	158850566	9	7276											
NUF2	83540	genome.wustl.edu	37	1	163298075	163298075	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:163298075A>C	ENST00000271452.3	+	4	535	c.256A>C	c.(256-258)Agc>Cgc	p.S86R	NUF2_ENST00000524800.1_Missense_Mutation_p.S86R|NUF2_ENST00000367900.3_Missense_Mutation_p.S86R|NUF2_ENST00000490881.1_3'UTR	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	86	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.S86R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTTACCATTCAGCAATTTAGT	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											139	126	131					1																	163298075		2203	4300	6503	161564699	SO:0001583	missense	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.256A>C	1.37:g.163298075A>C	ENSP00000271452:p.Ser86Arg		161564699	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	A	9.000	0.979979	0.18812	.	.	ENSG00000143228	ENST00000534289;ENST00000450453;ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	T;T;T	0.30714	1.53;1.52;1.52	4.75	2.27	0.28462	.	0.637154	0.17881	N	0.158868	T	0.04543	0.0124	N	0.08118	0	0.27166	N	0.961045	B;B;B	0.14012	0.009;0.009;0.008	B;B;B	0.12837	0.008;0.008;0.008	T	0.24728	-1.0152	9	0.41790	T	0.15	-5.1608	2.9829	0.05958	0.6243:0.0:0.1954:0.1802	.	86;86;86	E9PQC4;Q9BZD4;B1AQT4	.;NUF2_HUMAN;.	R	86	ENSP00000436888:S86R;ENSP00000356875:S86R;ENSP00000271452:S86R	ENSP00000271452:S86R	S	+	1	0	NUF2	161564699	0.991000	0.36638	1.000000	0.80357	0.992000	0.81027	1.436000	0.34980	0.956000	0.37904	0.482000	0.46254	AGC		0.318	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		C	163298075	A	C	163298075	3	2	134	1	0	0	0	0	1	0	0	0	10747	188	7	5	266	5	NUF2	1	163298075	Missense_Mutation	SNP	A	TCGA-13-1488-01A-01W-0549-09	72898020	163298075	85952546	10	7277											
SNAP47	116841	genome.wustl.edu	37	1	227947172	227947172	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:227947172C>G	ENST00000366759.4	+	3	1523	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	SNAP47_ENST00000366760.1_Nonsense_Mutation_p.S128*|SNAP47_ENST00000315781.5_Nonsense_Mutation_p.S370*	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	370					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.S370*(2)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AAGAGCTGCTCAGTCTGGCAT	0.517																																																2	Substitution - Nonsense(2)	ovary(1)|lung(1)	1											109	113	111					1																	227947172		2203	4300	6503	226013795	SO:0001587	stop_gained	116841			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1109C>G	1.37:g.227947172C>G	ENSP00000355721:p.Ser370*		226013795	B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Nonsense_Mutation	SNP	ENST00000366759.4	37	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305939	0.81247	.	.	ENSG00000143740	ENST00000366760;ENST00000366759;ENST00000315781	.	.	.	4.96	4.05	0.47172	.	0.503679	0.20490	N	0.091309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.7328	10.853	0.46782	0.0:0.9085:0.0:0.0915	.	.	.	.	X	128;370;370	.	ENSP00000314157:S370X	S	+	2	0	SNAP47	226013795	0.003000	0.15002	0.067000	0.19924	0.061000	0.15899	1.284000	0.33249	1.315000	0.45114	0.561000	0.74099	TCA		0.517	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		G	227947172	C	G	227947172	4	3	134	1	0	0	0	0	0	1	0	0	14835	838	29	3	1119	3	SNAP47	1	227947172	Nonsense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	64649097	227947172	21303449	11	7278											
SLC35F3	148641	genome.wustl.edu	37	1	234367294	234367294	+	Missense_Mutation	SNP	G	G	A	rs200834507	byFrequency	TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:234367294G>A	ENST00000366617.3	+	2	436	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	SLC35F3_ENST00000366618.3_Missense_Mutation_p.V139M			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	70					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.V139M(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CTTCTGGGGCGTGGCGGTCGT	0.701													G|||	2	0.000399361	0.0015	0	5008	,	,		13267	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											103	91	95					1																	234367294		2203	4299	6502	232433917	SO:0001583	missense	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.208G>A	1.37:g.234367294G>A	ENSP00000355576:p.Val70Met		232433917	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37		.	.	.	.	.	.	.	.	.	.	G	19.83	3.899421	0.72754	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.55052	0.54;0.57	4.41	3.47	0.39725	.	0.186465	0.46758	D	0.000273	T	0.61426	0.2346	M	0.65498	2.005	0.43234	D	0.995134	D;D	0.69078	0.987;0.997	P;P	0.58873	0.502;0.847	T	0.60260	-0.7298	10	0.42905	T	0.14	-11.694	8.0544	0.30596	0.085:0.1618:0.7532:0.0	.	70;139	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	M	139;70	ENSP00000355577:V139M;ENSP00000355576:V70M	ENSP00000355576:V70M	V	+	1	0	SLC35F3	232433917	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	3.400000	0.52594	1.018000	0.39521	0.313000	0.20887	GTG		0.701	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		A	234367294	G	A	234367294	3	1	134	1	0	0	0	0	1	0	0	0	14593	1145	40	1	425	1	SLC35F3	1	234367294	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	6420122	234367294	14883327	12	7279											
KIF26B	55083	genome.wustl.edu	37	1	245704147	245704147	+	Silent	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr1:245704147C>T	ENST00000407071.2	+	5	1685	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	KIF26B_ENST00000366518.4_Silent_p.L34L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	415					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.L415L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AACCACCGCTCTTTGCAACCA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	1											83	84	83					1																	245704147		1869	4094	5963	243770770	SO:0001819	synonymous_variant	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1245C>T	1.37:g.245704147C>T			243770770	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																				0.557	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		T	245704147	C	T	245704147	2	4	134	1	0	0	0	0	0	0	0	1	8295	900	32	2		2	KIF26B	1	245704147	Silent	SNP	C	TCGA-13-1488-01A-01W-0549-09	11336853	245704147	3546474	13	7280											
ALLC	55821	genome.wustl.edu	37	2	3743355	3743356	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	GG	GG	GG	TT	GG	GG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr2:3743355_3743356GG>TT	ENST00000252505.3	+	8	722_723	c.560_561GG>TT	c.(559-561)tGG>tTT	p.W187F	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	206					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CAAAAAGACTGGACTGCAACTG	0.441										HNSCC(21;0.051)																																						0			2																																								3721231	SO:0001583	missense	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	Exception_encountered	2.37:g.3743355_3743356delinsTT	ENSP00000252505:p.Trp187Phe		3721230	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	DNP	ENST00000252505.3	37	CCDS46223.1																																																																																				0.441	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			TT	3743356	GG	TT	3743355	3	4	134	1	0	0	0	0	1	0	0	0	534	1357	47	3	586	3	ALLC	2	3743355	Missense_Mutation	DNP	GG	TCGA-13-1488-01A-01W-0549-09		3743355	239456018	14	7281											
TBC1D8	11138	genome.wustl.edu	37	2	101706739	101706739	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr2:101706739T>C	ENST00000376840.4	-	2	214	c.215A>G	c.(214-216)cAg>cGg	p.Q72R	TBC1D8_ENST00000409318.1_Missense_Mutation_p.Q72R			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	72					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.Q72R(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AGAATAAACCTGGGAGCCGGG	0.493																																																1	Substitution - Missense(1)	ovary(1)	2											60	59	60					2																	101706739		1882	4106	5988	101073171	SO:0001583	missense	11138			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.215A>G	2.37:g.101706739T>C	ENSP00000366036:p.Gln72Arg		101073171	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021009	0.75275	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.21734	1.99;3.93	5.61	4.38	0.52667	.	.	.	.	.	T	0.41650	0.1168	M	0.72894	2.215	0.32467	N	0.543361	P;D	0.63046	0.59;0.992	B;D	0.63113	0.258;0.911	T	0.53947	-0.8366	9	0.59425	D	0.04	-11.2305	11.9214	0.52793	0.0:0.0:0.2573:0.7427	.	72;72	B7Z6L4;O95759	.;TBCD8_HUMAN	R	72	ENSP00000366036:Q72R;ENSP00000386856:Q72R	ENSP00000366036:Q72R	Q	-	2	0	TBC1D8	101073171	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.324000	0.52022	2.145000	0.66743	0.482000	0.46254	CAG		0.493	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		C	101706739	T	C	101706739	3	2	134	1	0	0	0	0	1	0	0	0	15625	1580	55	4	3283	4	TBC1D8	2	101706739	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	97963384	101706739	141492634	15	7282											
RNF149	284996	genome.wustl.edu	37	2	101911618	101911618	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr2:101911618C>T	ENST00000295317.3	-	2	593	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	162	PA.				cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M162I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GATAGCTAATCATAATGACCA	0.373																																					Colon(25;331 612 6521 7355 31028)											1	Substitution - Missense(1)	ovary(1)	2											101	95	97					2																	101911618		2203	4300	6503	101278050	SO:0001583	missense	284996			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.486G>A	2.37:g.101911618C>T	ENSP00000295317:p.Met162Ile		101278050	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900064	0.92035	.	.	ENSG00000163162	ENST00000295317	T	0.07567	3.18	5.33	5.33	0.75918	Protease-associated domain, PA (1);	0.068682	0.64402	N	0.000015	T	0.29355	0.0731	M	0.83774	2.66	0.80722	D	1	D	0.56968	0.978	P	0.57620	0.824	T	0.03443	-1.1036	10	0.52906	T	0.07	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	162	Q8NC42	RN149_HUMAN	I	162	ENSP00000295317:M162I	ENSP00000295317:M162I	M	-	3	0	RNF149	101278050	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.664000	0.83830	2.490000	0.84030	0.591000	0.81541	ATG		0.373	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		T	101911618	C	T	101911618	3	4	134	1	0	0	0	0	1	0	0	0	13453	826	29	2	740	2	RNF149	2	101911618	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	204879	101911618	141287755	16	7283											
POTEF	728378	genome.wustl.edu	37	2	130832770	130832770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr2:130832770G>A	ENST00000409914.2	-	17	2674	c.2275C>T	c.(2275-2277)Cag>Tag	p.Q759*	POTEF_ENST00000357462.5_Nonsense_Mutation_p.Q759*	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	759	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Q759*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTTTGCTCTGGGCCTCCTTG	0.587																																																1	Substitution - Nonsense(1)	ovary(1)	2											53	51	51					2																	130832770		2202	4287	6489	130549240	SO:0001587	stop_gained	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2275C>T	2.37:g.130832770G>A	ENSP00000386786:p.Gln759*		130549240	A6NC34	Nonsense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.042832	0.75732	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	.	.	.	X	759	.	ENSP00000350052:Q759X	Q	-	1	0	POTEF	130549240	1.000000	0.71417	0.100000	0.21137	0.101000	0.19017	3.701000	0.54793	0.119000	0.18210	0.121000	0.15741	CAG		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130832770	G	A	130832770	4	1	134	1	0	0	0	0	0	1	0	0	12265	1357	47	2	956	2	POTEF	2	130832770	Nonsense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	28921152	130832770	112366603	17	7284											
ITGA4	3676	genome.wustl.edu	37	2	182360592	182360592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr2:182360592G>T	ENST00000397033.2	+	14	1898	c.1468G>T	c.(1468-1470)Gga>Tga	p.G490*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	490					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.G490*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGTTGAAAATGGATGGCCTTC	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	2											194	173	180					2																	182360592		1915	4141	6056	182068837	SO:0001587	stop_gained	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1468G>T	2.37:g.182360592G>T	ENSP00000380227:p.Gly490*		182068837	D3DPG4|Q7Z4L6	Nonsense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	38	7.232903	0.98154	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	.	.	.	5.8	5.8	0.92144	.	0.272836	0.38778	N	0.001574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.0586	0.97663	0.0:0.0:1.0:0.0	.	.	.	.	X	490	.	ENSP00000233573:G490X	G	+	1	0	ITGA4	182068837	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.444000	0.66587	2.741000	0.93983	0.650000	0.86243	GGA		0.393	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			T	182360592	G	T	182360592	4	4	134	1	0	0	0	0	0	1	0	0	7878	1349	47	3	1522	3	ITGA4	2	182360592	Nonsense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	51527822	182360592	60838781	18	7285											
TNS1	7145	genome.wustl.edu	37	2	218749882	218749882	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr2:218749882C>A	ENST00000171887.4	-	14	1199	c.747G>T	c.(745-747)aaG>aaT	p.K249N	TNS1_ENST00000430930.1_Missense_Mutation_p.K249N|TNS1_ENST00000310858.6_Missense_Mutation_p.K280N|TNS1_ENST00000419504.1_Missense_Mutation_p.K249N	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	249	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.K249N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGTGGTAGCACTTCAGCTGGG	0.612																																																1	Substitution - Missense(1)	ovary(1)	2											98	81	86					2																	218749882		2203	4300	6503	218458127	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.747G>T	2.37:g.218749882C>A	ENSP00000171887:p.Lys249Asn		218458127	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238864|3.238864	0.58995|0.58995	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858|ENST00000453356	D;D;D;D;D;D|.	0.86164|.	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08|.	4.74|4.74	1.75|1.75	0.24633|0.24633	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75649|0.75649	0.3878|0.3878	M|M	0.88775|0.88775	2.98|2.98	0.53688|0.53688	D|D	0.999976|0.999976	D;D;D;D;D;D|.	0.89917|.	1.0;0.997;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.999;0.978;0.993;0.999;0.998;0.998|.	T|T	0.76222|0.76222	-0.3038|-0.3038	10|5	0.72032|.	D|.	0.01|.	.|.	9.3384|9.3384	0.38065|0.38065	0.0:0.6693:0.0:0.3307|0.0:0.6693:0.0:0.3307	.|.	249;303;280;249;249;249|.	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55|.	.;.;.;TENS1_HUMAN;.;.|.	N|L	249;249;249;374;317;280|25	ENSP00000171887:K249N;ENSP00000408724:K249N;ENSP00000406016:K249N;ENSP00000405460:K374N;ENSP00000400383:K317N;ENSP00000308321:K280N|.	ENSP00000171887:K249N|.	K|V	-|-	3|1	2|0	TNS1|TNS1	218458127|218458127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	1.477000|1.477000	0.35431|0.35431	0.614000|0.614000	0.30107|0.30107	-0.251000|-0.251000	0.11542|0.11542	AAG|GTG		0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218749882	C	A	218749882	3	1	134	1	0	0	0	0	1	0	0	0	16343	564	20	3	4540	3	TNS1	2	218749882	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	36389290	218749882	24449491	19	7286											
USP40	55230	genome.wustl.edu	37	2	234431861	234431861	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr2:234431861C>G	ENST00000427112.2	-	15	2188	c.2153G>C	c.(2152-2154)aGa>aCa	p.R718T	USP40_ENST00000450966.1_Missense_Mutation_p.R730T|USP40_ENST00000251722.6_Missense_Mutation_p.R718T			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	718					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R730T(1)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GCTTCCATTTCTGAGCCCTTG	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											148	140	143					2																	234431861		1889	4124	6013	234096600	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2153G>C	2.37:g.234431861C>G	ENSP00000387898:p.Arg718Thr		234096600	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	2.031	-0.422457	0.04734	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.64	0.151	0.14888	.	0.826783	0.11288	N	0.579546	T	0.32010	0.0815	L	0.48362	1.52	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.11329	0.003;0.006	T	0.25537	-1.0129	10	0.36615	T	0.2	.	6.2646	0.20919	0.0:0.3923:0.1772:0.4306	.	718;730	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	T	730;718;718;13	ENSP00000415434:R730T;ENSP00000251722:R718T;ENSP00000387898:R718T;ENSP00000408853:R13T	ENSP00000251722:R718T	R	-	2	0	USP40	234096600	0.000000	0.05858	0.001000	0.08648	0.192000	0.23643	-0.357000	0.07651	0.079000	0.16929	-0.812000	0.03155	AGA		0.443	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		G	234431861	C	G	234431861	3	3	134	1	0	0	0	0	1	0	0	0	17072	913	32	3	1622	3	USP40	2	234431861	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	15681979	234431861	8767512	20	7287											
PASK	23178	genome.wustl.edu	37	2	242076663	242076663	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr2:242076663C>T	ENST00000405260.1	-	7	1591	c.893G>A	c.(892-894)aGg>aAg	p.R298K	PASK_ENST00000539818.1_Missense_Mutation_p.R82K|PASK_ENST00000358649.4_Missense_Mutation_p.R298K|PASK_ENST00000403638.3_Missense_Mutation_p.R298K|PASK_ENST00000234040.4_Missense_Mutation_p.R298K|PASK_ENST00000544142.1_Missense_Mutation_p.R112K	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	298					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R298K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCCAACAGACCTCTGAATCTT	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											75	75	75					2																	242076663		2203	4300	6503	241725336	SO:0001583	missense	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.893G>A	2.37:g.242076663C>T	ENSP00000384016:p.Arg298Lys		241725336	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.901526|3.901526	0.72754|0.72754	.|.	.|.	ENSG00000115687|ENSG00000115687	ENST00000433589|ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638;ENST00000415234	.|T;T;T;T;T;T;T	.|0.70045	.|-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.26|5.26	4.19|4.19	0.49359|0.49359	.|.	.|0.000000	.|0.56097	.|D	.|0.000033	T|T	0.78597|0.78597	0.4308|0.4308	M|M	0.72118|0.72118	2.19|2.19	0.21147|0.21147	N|N	0.99977|0.99977	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.989;0.999	.|D;D;D;P;D	.|0.83275	.|0.991;0.996;0.996;0.898;0.991	T|T	0.68481|0.68481	-0.5397|-0.5397	5|10	.|0.49607	.|T	.|0.09	.|.	11.7346|11.7346	0.51757|0.51757	0.0:0.8997:0.0:0.1003|0.0:0.8997:0.0:0.1003	.|.	.|263;112;298;298;298	.|B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;.;PASK_HUMAN	S|K	113|298;112;298;298;82;298;82	.|ENSP00000234040:R298K;ENSP00000441374:R112K;ENSP00000384016:R298K;ENSP00000351475:R298K;ENSP00000443083:R82K;ENSP00000384438:R298K;ENSP00000400734:R82K	.|ENSP00000234040:R298K	G|R	-|-	1|2	0|0	PASK|PASK	241725336|241725336	0.996000|0.996000	0.38824|0.38824	0.992000|0.992000	0.48379|0.48379	0.916000|0.916000	0.54674|0.54674	1.840000|1.840000	0.39230|0.39230	2.453000|2.453000	0.82957|0.82957	0.467000|0.467000	0.42956|0.42956	GGT|AGG		0.562	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		T	242076663	C	T	242076663	3	4	134	1	0	0	0	0	1	0	0	0	11472	681	24	2	3126	2	PASK	2	242076663	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	7644802	242076663	1122710	21	7288											
ITPR1	3708	genome.wustl.edu	37	3	4714842	4714842	+	Silent	SNP	A	A	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr3:4714842A>C	ENST00000443694.2	+	18	2182	c.2182A>C	c.(2182-2184)Agg>Cgg	p.R728R	ITPR1_ENST00000302640.8_Silent_p.R728R|ITPR1_ENST00000423119.2_Silent_p.R743R|ITPR1_ENST00000354582.6_Silent_p.R743R|ITPR1_ENST00000456211.2_Silent_p.R728R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.R743R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	743					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R728R(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCTCTTTGCGAGGATGTGTCT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	3											42	46	45					3																	4714842		2067	4219	6286	4689842	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2182A>C	3.37:g.4714842A>C			4689842	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.532	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		C	4714842	A	C	4714842	2	2	134	1	0	0	0	0	0	0	0	1	7920	295	11	5		5	ITPR1	3	4714842	Silent	SNP	A	TCGA-13-1488-01A-01W-0549-09		4714842	193307588	22	7289											
ZNF619	285267	genome.wustl.edu	37	3	40528383	40528383	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr3:40528383G>A	ENST00000314686.5	+	6	739	c.334G>A	c.(334-336)Gga>Aga	p.G112R	ZNF619_ENST00000429348.2_Missense_Mutation_p.G128R|ZNF619_ENST00000447116.2_Missense_Mutation_p.G168R|ZNF619_ENST00000456778.1_Missense_Mutation_p.G84R|ZNF619_ENST00000432264.2_Missense_Mutation_p.G128R|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.G168R|ZNF619_ENST00000522736.1_Missense_Mutation_p.G119R			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G112R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GATAGTGGAGGGACTGCTGAT	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											65	66	66					3																	40528383		2203	4300	6503	40503387	SO:0001583	missense	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.334G>A	3.37:g.40528383G>A	ENSP00000322529:p.Gly112Arg		40503387	B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37		.	.	.	.	.	.	.	.	.	.	G	9.678	1.148629	0.21288	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.05996	3.36;3.5;3.59;3.45;3.37;3.5;3.59	2.69	1.72	0.24424	.	.	.	.	.	T	0.02610	0.0079	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B	0.12013	0.001;0.001;0.005;0.005;0.001;0.001	B;B;B;B;B;B	0.09377	0.001;0.001;0.004;0.002;0.001;0.001	T	0.48592	-0.9022	9	0.17832	T	0.49	.	6.7853	0.23670	0.167:0.0:0.833:0.0	.	84;128;168;70;119;112	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	R	112;168;128;84;119;168;128	ENSP00000322529:G112R;ENSP00000411132:G168R;ENSP00000398024:G128R;ENSP00000397232:G84R;ENSP00000428004:G119R;ENSP00000430705:G168R;ENSP00000388710:G128R	ENSP00000322529:G112R	G	+	1	0	ZNF619	40503387	0.000000	0.05858	0.003000	0.11579	0.157000	0.22087	0.034000	0.13776	0.414000	0.25790	0.563000	0.77884	GGA		0.438	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		A	40528383	G	A	40528383	3	1	134	1	0	0	0	0	1	0	0	0	18043	1233	43	2	542	2	ZNF619	3	40528383	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	35813541	40528383	157494047	23	7290											
LARS2	23395	genome.wustl.edu	37	3	45518043	45518043	+	Silent	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr3:45518043C>T	ENST00000415258.1	+	9	1083	c.942C>T	c.(940-942)atC>atT	p.I314I	LARS2_ENST00000414984.1_Silent_p.I271I|LARS2_ENST00000265537.3_Silent_p.I314I			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	314					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.I314I(1)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACGTGGCCATCTCGCCCAGCC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	3											83	80	81					3																	45518043		2203	4300	6503	45493047	SO:0001819	synonymous_variant	23395			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.942C>T	3.37:g.45518043C>T			45493047		Silent	SNP	ENST00000415258.1	37	CCDS2728.1																																																																																				0.572	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		T	45518043	C	T	45518043	2	4	134	1	0	0	0	0	0	0	0	1	8635	903	32	2		2	LARS2	3	45518043	Silent	SNP	C	TCGA-13-1488-01A-01W-0549-09	4989660	45518043	152504387	24	7291											
USP19	10869	genome.wustl.edu	37	3	49153262	49153262	+	Silent	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr3:49153262C>T	ENST00000398888.2	-	10	1596	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	USP19_ENST00000398896.1_Silent_p.E234E|USP19_ENST00000417901.1_Silent_p.E529E|USP19_ENST00000398892.3_Silent_p.E466E|USP19_ENST00000398898.2_Silent_p.E466E|USP19_ENST00000453664.1_Silent_p.E517E|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Silent_p.E527E	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	426					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.E514E(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATTTATCCTTCTCCACAGCCC	0.612																																																1	Substitution - coding silent(1)	ovary(1)	3											83	86	85					3																	49153262		2045	4180	6225	49128266	SO:0001819	synonymous_variant	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1278G>A	3.37:g.49153262C>T			49128266	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	5.134	0.210307	0.09757	.	.	ENSG00000172046	ENST00000425298	.	.	.	6.17	6.17	0.99709	.	0.176869	0.52532	D	0.000080	D	0.82365	0.5021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82721	-0.0317	6	0.87932	D	0	-30.802	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	K	514	.	ENSP00000412679:E514K	E	-	1	0	USP19	49128266	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.916000	0.39986	2.941000	0.99782	0.655000	0.94253	GAA		0.612	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		T	49153262	C	T	49153262	2	4	134	1	0	0	0	0	0	0	0	1	17050	912	32	2		2	USP19	3	49153262	Silent	SNP	C	TCGA-13-1488-01A-01W-0549-09	3635219	49153262	148869168	25	7292											
USP4	7375	genome.wustl.edu	37	3	49362402	49362402	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr3:49362402T>G	ENST00000265560.4	-	5	604	c.558A>C	c.(556-558)aaA>aaC	p.K186N	USP4_ENST00000351842.4_Missense_Mutation_p.K186N|USP4_ENST00000416417.1_Missense_Mutation_p.K186N|USP4_ENST00000415188.1_Missense_Mutation_p.K186N	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	186	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.K186N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCTCATGTATTTGTTCCAGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	3											187	185	186					3																	49362402		2203	4300	6503	49337406	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.558A>C	3.37:g.49362402T>G	ENSP00000265560:p.Lys186Asn		49337406	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345697	0.82022	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.32988	1.94;2.04;1.43	5.51	0.339	0.15979	.	0.177620	0.51477	D	0.000095	T	0.40171	0.1106	M	0.71206	2.165	0.44462	D	0.997395	D;P	0.55605	0.972;0.944	P;P	0.52514	0.701;0.657	T	0.32428	-0.9907	10	0.56958	D	0.05	-15.4384	9.9363	0.41552	0.0:0.365:0.0:0.635	.	186;186	Q13107-2;Q13107	.;UBP4_HUMAN	N	186	ENSP00000341028:K186N;ENSP00000265560:K186N;ENSP00000400623:K186N	ENSP00000265560:K186N	K	-	3	2	USP4	49337406	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	0.099000	0.15210	0.081000	0.16988	0.402000	0.26972	AAA		0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		G	49362402	T	G	49362402	3	3	134	1	0	0	0	0	1	0	0	0	17071	1490	52	5	2405	5	USP4	3	49362402	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	209140	49362402	148660028	26	7293											
ITIH4	3700	genome.wustl.edu	37	3	52863234	52863234	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr3:52863234G>T	ENST00000266041.4	-	2	248	c.152C>A	c.(151-153)aCg>aAg	p.T51K	RP5-966M1.6_ENST00000513520.1_5'Flank|ITIH4_ENST00000406595.1_Missense_Mutation_p.T51K|ITIH4_ENST00000346281.5_Missense_Mutation_p.T51K|ITIH4_ENST00000485816.1_Missense_Mutation_p.T51K|ITIH4_ENST00000434759.3_Intron|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	51	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T51K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGTGACGACCGTGTGGGCAAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	3											151	132	138					3																	52863234		2203	4300	6503	52838274	SO:0001583	missense	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.152C>A	3.37:g.52863234G>T	ENSP00000266041:p.Thr51Lys		52838274	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110706	0.77210	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.4	5.4	0.78164	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.000000	0.64402	D	0.000002	T	0.56949	0.2020	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63269	-0.6675	10	0.72032	D	0.01	-20.2445	16.9554	0.86258	0.0:0.0:1.0:0.0	.	51;51;51	E9PGN5;B7ZKJ8;Q14624	.;.;ITIH4_HUMAN	K	51	ENSP00000266041:T51K;ENSP00000340520:T51K;ENSP00000417824:T51K;ENSP00000384425:T51K	ENSP00000266041:T51K	T	-	2	0	ITIH4	52838274	1.000000	0.71417	0.952000	0.39060	0.352000	0.29268	3.808000	0.55598	2.518000	0.84900	0.655000	0.94253	ACG		0.552	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		T	52863234	G	T	52863234	3	4	134	1	0	0	0	0	1	0	0	0	7906	1145	40	3	2732	3	ITIH4	3	52863234	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	3500832	52863234	145159196	27	7294											
CD200R1L	344807	genome.wustl.edu	37	3	112546240	112546240	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr3:112546240T>C	ENST00000398214.1	-	3	629	c.404A>G	c.(403-405)cAt>cGt	p.H135R	CD200R1L_ENST00000488794.1_Missense_Mutation_p.H114R|CD200R1L_ENST00000448932.1_Missense_Mutation_p.H114R	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	135	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.H135R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						ATATCCACGATGGAAATTCCC	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											119	115	116					3																	112546240		2203	4300	6503	114028930	SO:0001583	missense	344807			AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.404A>G	3.37:g.112546240T>C	ENSP00000381272:p.His135Arg		114028930	Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	3.664	-0.068894	0.07228	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.08807	3.05;3.05;3.05	4.19	-1.36	0.09085	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.625110	0.03015	N	0.149924	T	0.09247	0.0228	L	0.50333	1.59	0.09310	N	1	B	0.21753	0.06	B	0.14023	0.01	T	0.37979	-0.9682	10	0.23302	T	0.38	.	7.6153	0.28154	0.0:0.4046:0.0:0.5954	.	135	Q6Q8B3	MO2R2_HUMAN	R	135;114;114	ENSP00000381272:H135R;ENSP00000418413:H114R;ENSP00000415132:H114R	ENSP00000381272:H135R	H	-	2	0	CD200R1L	114028930	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.837000	0.04377	-0.321000	0.08627	-0.263000	0.10527	CAT		0.448	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		C	112546240	T	C	112546240	3	2	134	1	0	0	0	0	1	0	0	0	2982	1464	51	4	427	4	CD200R1L	3	112546240	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	59683006	112546240	85476190	28	7295											
TCTEX1D2	255758	genome.wustl.edu	37	3	196018207	196018207	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr3:196018207G>C	ENST00000325318.5	-	5	555	c.420C>G	c.(418-420)ttC>ttG	p.F140L	RP11-447L10.1_ENST00000431391.1_Intron|TCTEX1D2_ENST00000491186.1_5'UTR	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	140								p.F140L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTCAGTAGTAGAAACAGCCAA	0.318																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	3											72	76	74					3																	196018207		2203	4300	6503	197502604	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.420C>G	3.37:g.196018207G>C	ENSP00000324323:p.Phe140Leu		197502604	A6NCN5	Missense_Mutation	SNP	ENST00000325318.5	37	CCDS33929.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721762	0.48728	.	.	ENSG00000213123	ENST00000325318	T	0.27720	1.65	5.28	5.28	0.74379	.	0.105285	0.40469	U	0.001095	T	0.38639	0.1048	M	0.74546	2.27	0.47994	D	0.999565	B	0.17852	0.024	B	0.26614	0.071	T	0.30149	-0.9988	10	0.72032	D	0.01	-6.8512	14.2969	0.66318	0.0:0.0:1.0:0.0	.	140	Q8WW35	TC1D2_HUMAN	L	140	ENSP00000324323:F140L	ENSP00000324323:F140L	F	-	3	2	TCTEX1D2	197502604	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	4.433000	0.59929	2.756000	0.94617	0.655000	0.94253	TTC		0.318	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341166.1	NM_152773		C	196018207	G	C	196018207	3	2	134	1	0	0	0	0	1	0	0	0	15720	933	33	3	12	3	TCTEX1D2	3	196018207	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	83471967	196018207	2004223	29	7296											
C4orf23	152992	genome.wustl.edu	37	4	8465728	8465728	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr4:8465728C>T	ENST00000389737.4	+	7	1220	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	TRMT44_ENST00000513449.2_Missense_Mutation_p.P166L	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	407					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.P15L(1)									GCAATCACACCCAATGATAAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	4											225	197	207					4																	8465728		2203	4300	6503	8516628	SO:0001583	missense	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1220C>T	4.37:g.8465728C>T	ENSP00000374387:p.Pro407Leu		8516628	Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415548	0.83449	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.44083	0.93;0.93	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.82299	-0.0526	10	0.72032	D	0.01	-15.0146	16.7502	0.85483	0.0:1.0:0.0:0.0	.	407;166	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	L	166;407;15	ENSP00000424643:P166L;ENSP00000374387:P407L	ENSP00000285635:P15L	P	+	2	0	METTL19	8516628	1.000000	0.71417	0.103000	0.21229	0.260000	0.26232	6.509000	0.73725	2.251000	0.74343	0.563000	0.77884	CCC		0.443	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		T	8465728	C	T	8465728	3	4	134	1	0	0	0	0	1	0	0	0	2256	623	22	2	1246	2	C4orf23	4	8465728	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09		8465728	182688548	30	7297											
DCAF16	54876	genome.wustl.edu	37	4	17805173	17805173	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr4:17805173T>C	ENST00000382247.1	-	3	1652	c.592A>G	c.(592-594)Act>Gct	p.T198A	DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_Missense_Mutation_p.T198A	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	198					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.T198A(1)		cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TAAGAATAAGTAGTGTTGATG	0.393																																																1	Substitution - Missense(1)	ovary(1)	4											204	192	196					4																	17805173		2203	4300	6503	17414271	SO:0001583	missense	54876			AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"DDB1 and CUL4 associated factors"	25987	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 30"	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.592A>G	4.37:g.17805173T>C	ENSP00000371682:p.Thr198Ala		17414271	B3KPB7	Missense_Mutation	SNP	ENST00000382247.1	37	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	T	8.936	0.964540	0.18583	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.35789	1.29;1.29	4.04	4.04	0.47022	.	.	.	.	.	T	0.35799	0.0944	N	0.08118	0	0.25494	N	0.987619	D	0.60575	0.988	D	0.65010	0.931	T	0.15694	-1.0428	9	0.87932	D	0	-7.4524	9.6727	0.40021	0.0:0.0:0.0:1.0	.	198	Q9NXF7	DCA16_HUMAN	A	198	ENSP00000371682:T198A;ENSP00000445736:T198A	ENSP00000371682:T198A	T	-	1	0	DCAF16	17414271	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	1.239000	0.32719	2.061000	0.61500	0.454000	0.30748	ACT		0.393	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		C	17805173	T	C	17805173	3	2	134	1	0	0	0	0	1	0	0	0	4268	1638	57	4	62	4	DCAF16	4	17805173	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	9339445	17805173	173349103	31	7298											
UGT2A3	79799	genome.wustl.edu	37	4	69817092	69817092	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr4:69817092G>C	ENST00000251566.4	-	1	417	c.387C>G	c.(385-387)atC>atG	p.I129M	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	129					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.I129M(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTGATTGTAGATAAAGCTCT	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											64	65	65					4																	69817092		2203	4300	6503	69851681	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.387C>G	4.37:g.69817092G>C	ENSP00000251566:p.Ile129Met		69851681	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920297	0.52653	.	.	ENSG00000135220	ENST00000251566	T	0.61859	0.07	4.74	-2.89	0.05665	.	0.351072	0.25587	N	0.029647	T	0.44456	0.1294	N	0.12961	0.28	0.33897	D	0.638074	P	0.44776	0.843	P	0.53062	0.717	T	0.54689	-0.8256	10	0.66056	D	0.02	.	6.4629	0.21966	0.4949:0.2493:0.2557:0.0	.	129	Q6UWM9	UD2A3_HUMAN	M	129	ENSP00000251566:I129M	ENSP00000251566:I129M	I	-	3	3	UGT2A3	69851681	0.000000	0.05858	0.001000	0.08648	0.601000	0.36947	-1.153000	0.03169	-0.609000	0.05724	0.591000	0.81541	ATC		0.378	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		C	69817092	G	C	69817092	3	2	134	1	0	0	0	0	1	0	0	0	16955	932	33	3	1220	3	UGT2A3	4	69817092	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	52011919	69817092	121337184	32	7299											
NPFFR2	10886	genome.wustl.edu	37	4	73013323	73013323	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr4:73013323T>C	ENST00000308744.6	+	4	1461	c.1363T>C	c.(1363-1365)Tgc>Cgc	p.C455R	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.C356R|NPFFR2_ENST00000358749.3_Missense_Mutation_p.C353R	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	455					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.C455R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCTCCAGCTCTGCCAAAAAAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	4											68	74	72					4																	73013323		2203	4300	6503	73232187	SO:0001583	missense	10886			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1363T>C	4.37:g.73013323T>C	ENSP00000307822:p.Cys455Arg		73232187	Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.072877	0.36566	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.36340	1.26;1.26;1.26	5.83	4.66	0.58398	.	0.211888	0.34110	N	0.004255	T	0.44871	0.1314	M	0.75085	2.285	0.80722	D	1	P;P	0.46784	0.86;0.884	P;B	0.47044	0.535;0.41	T	0.47169	-0.9138	10	0.51188	T	0.08	.	11.0397	0.47823	0.0:0.0728:0.0:0.9272	.	356;455	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	R	455;356;353	ENSP00000307822:C455R;ENSP00000379321:C356R;ENSP00000351599:C353R	ENSP00000307822:C455R	C	+	1	0	NPFFR2	73232187	1.000000	0.71417	0.997000	0.53966	0.574000	0.36063	5.062000	0.64326	2.225000	0.72522	0.533000	0.62120	TGC		0.448	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		C	73013323	T	C	73013323	3	2	134	1	0	0	0	0	1	0	0	0	10578	1580	55	4	1383	4	NPFFR2	4	73013323	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	3196231	73013323	118140953	33	7300											
C6	729	genome.wustl.edu	37	5	41159314	41159314	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr5:41159314T>G	ENST00000263413.3	-	12	1990	c.1726A>C	c.(1726-1728)Acc>Ccc	p.T576P	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Missense_Mutation_p.T576P	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	576	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T576P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCATCACAGGTACTCCAGGAA	0.512																																																1	Substitution - Missense(1)	ovary(1)	5											82	84	83					5																	41159314		2203	4300	6503	41195071	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1726A>C	5.37:g.41159314T>G	ENSP00000263413:p.Thr576Pro		41195071		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	0.400	-0.918756	0.02396	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.16743	2.32;2.32	5.23	-10.5	0.00291	.	1.192650	0.05535	N	0.564680	T	0.03827	0.0108	N	0.03194	-0.395	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.20974	-1.0259	10	0.02654	T	1	4.6407	2.6946	0.05130	0.3378:0.2807:0.2856:0.096	.	576	P13671	CO6_HUMAN	P	576	ENSP00000338861:T576P;ENSP00000263413:T576P	ENSP00000263413:T576P	T	-	1	0	C6	41195071	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.616000	0.02053	-2.393000	0.00584	-0.341000	0.08007	ACC		0.512	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			G	41159314	T	G	41159314	3	3	134	1	0	0	0	0	1	0	0	0	2315	1638	57	5	1106	5	C6	5	41159314	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09		41159314	139755946	34	7301											
GCNT4	51301	genome.wustl.edu	37	5	74325000	74325000	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr5:74325000G>C	ENST00000322348.4	-	1	1724	c.863C>G	c.(862-864)tCc>tGc	p.S288C		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	288					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.S288C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TGCTTCCTTGGAGATGTTTGT	0.373																																																1	Substitution - Missense(1)	ovary(1)	5											71	71	71					5																	74325000		2203	4300	6503	74360756	SO:0001583	missense	51301			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.863C>G	5.37:g.74325000G>C	ENSP00000317027:p.Ser288Cys		74360756		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	15.29	2.789305	0.49997	.	.	ENSG00000176928	ENST00000322348	T	0.09163	3.01	6.06	5.19	0.71726	.	0.343916	0.34435	N	0.003980	T	0.21427	0.0516	L	0.54323	1.7	0.40063	D	0.975927	D	0.55172	0.97	P	0.52758	0.708	T	0.00961	-1.1499	10	0.56958	D	0.05	-16.3041	15.1526	0.72713	0.0671:0.0:0.9329:0.0	.	288	Q9P109	GCNT4_HUMAN	C	288	ENSP00000317027:S288C	ENSP00000317027:S288C	S	-	2	0	GCNT4	74360756	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	4.906000	0.63293	1.578000	0.49821	0.650000	0.86243	TCC		0.373	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		C	74325000	G	C	74325000	3	2	134	1	0	0	0	0	1	0	0	0	6303	1174	41	3	502	3	GCNT4	5	74325000	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	33165686	74325000	106590260	35	7302											
TRPC7	57113	genome.wustl.edu	37	5	135692447	135692447	+	Missense_Mutation	SNP	T	T	A	rs565522086		TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr5:135692447T>A	ENST00000513104.1	-	2	911	c.629A>T	c.(628-630)gAc>gTc	p.D210V	TRPC7_ENST00000355180.3_Missense_Mutation_p.D210V|TRPC7_ENST00000426057.2_Missense_Mutation_p.D210V	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	210					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTGAAGGAGTCTTTCCGCTG	0.602													T|||	1	0.000199681	8e-04	0	5008	,	,		19986	0		0	False		,,,				2504	0															0			5											57	63	61					5																	135692447		2157	4269	6426	135720346	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.629A>T	5.37:g.135692447T>A	ENSP00000426070:p.Asp210Val		135720346	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.346766|4.346766	0.82022|0.82022	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.85171|.	-1.95;-1.95;-1.95|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Transient receptor potential II (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83529|0.83529	0.5274|0.5274	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.998;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;0.957;1.0;0.999|.	D|D	0.87004|0.87004	0.2118|0.2118	10|5	0.87932|.	D|.	0|.	-31.9821|-31.9821	15.3565|15.3565	0.74431|0.74431	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	210;210;210;210|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	V|S	210|209	ENSP00000347312:D210V;ENSP00000441628:D210V;ENSP00000426070:D210V|.	ENSP00000265193:D210V|.	D|R	-|-	2|3	0|2	TRPC7|TRPC7	135720346|135720346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.868000|7.868000	0.87116|0.87116	2.205000|2.205000	0.71048|0.71048	0.528000|0.528000	0.53228|0.53228	GAC|AGA		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135692447	T	A	135692447	3	1	134	1	0	0	0	0	1	0	0	0	16584	1667	58	5	2003	5	TRPC7	5	135692447	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	61367447	135692447	45222813	36	7303											
PCDHGC4	56098	genome.wustl.edu	37	5	140864973	140864973	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr5:140864973A>T	ENST00000306593.1	+	1	233	c.233A>T	c.(232-234)gAt>gTt	p.D78V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D78V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGTGTGGATTTGGACAGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	5											76	71	73					5																	140864973		2203	4300	6503	140845157	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.233A>T	5.37:g.140864973A>T	ENSP00000306918:p.Asp78Val		140845157	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941549	0.73557	.	.	ENSG00000242419	ENST00000306593	T	0.48522	0.81	4.75	4.75	0.60458	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69106	0.3074	M	0.84433	2.695	0.44316	D	0.99719	D;D	0.89917	0.979;1.0	P;D	0.79784	0.846;0.993	T	0.74160	-0.3755	9	0.87932	D	0	.	10.5288	0.44965	0.9215:0.0:0.0785:0.0	.	78;78	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	V	78	ENSP00000306918:D78V	ENSP00000306918:D78V	D	+	2	0	PCDHGC4	140845157	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	3.037000	0.49775	1.984000	0.57885	0.459000	0.35465	GAT		0.572	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		T	140864973	A	T	140864973	3	4	134	1	0	0	0	0	1	0	0	0	11570	333	12	5	235	5	PCDHGC4	5	140864973	Missense_Mutation	SNP	A	TCGA-13-1488-01A-01W-0549-09	5172526	140864973	40050287	37	7304											
FBXO38	81545	genome.wustl.edu	37	5	147820791	147820791	+	Missense_Mutation	SNP	G	G	A	rs145662452		TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr5:147820791G>A	ENST00000340253.5	+	21	3547	c.3379G>A	c.(3379-3381)Gat>Aat	p.D1127N	FBXO38_ENST00000513826.1_Missense_Mutation_p.D882N|FBXO38_ENST00000296701.6_Missense_Mutation_p.D882N|FBXO38_ENST00000394370.3_Missense_Mutation_p.D1052N			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1127					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D1127N(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGAAGACGATGAAGAAAG	0.413																																																1	Substitution - Missense(1)	ovary(1)	5						G	ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	175	149	158		3154,3379	5.5	1	5	dbSNP_134	158	0,8600		0,0,4300	no	missense,missense	FBXO38	NM_030793.3,NM_205836.1	23,23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	1052/1114,1127/1189	147820791	2,13004	2203	4300	6503	147800984	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3379G>A	5.37:g.147820791G>A	ENSP00000342023:p.Asp1127Asn		147800984	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	G	33	5.244100	0.95272	4.54E-4	0.0	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.38077	1.16;1.24;1.22;1.24	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	L	0.29908	0.895	0.39137	D	0.961972	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.982;0.989;0.998	T	0.28170	-1.0052	10	0.19147	T	0.46	-21.9904	18.3358	0.90287	0.0:0.0:1.0:0.0	.	882;1052;1127	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	N	1127;882;1052;882	ENSP00000342023:D1127N;ENSP00000296701:D882N;ENSP00000377895:D1052N;ENSP00000426410:D882N	ENSP00000296701:D882N	D	+	1	0	FBXO38	147800984	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.328000	0.96403	2.750000	0.94351	0.591000	0.81541	GAT		0.413	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		A	147820791	G	A	147820791	3	1	134	1	0	0	0	0	1	0	0	0	5746	1058	37	1	3457	1	FBXO38	5	147820791	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	6955818	147820791	33094469	38	7305											
KIF4B	285643	genome.wustl.edu	37	5	154394117	154394117	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr5:154394117G>A	ENST00000435029.4	+	1	858	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	233	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R233H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCAGCTTTCGCTCCAAGCTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											102	100	101					5																	154394117		2203	4300	6503	154374310	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.698G>A	5.37:g.154394117G>A	ENSP00000387875:p.Arg233His		154374310		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	9.413	1.080958	0.20309	.	.	ENSG00000226650	ENST00000435029	T	0.72942	-0.7	1.73	0.812	0.18744	Kinesin, motor domain (4);	.	.	.	.	T	0.51092	0.1654	N	0.25957	0.775	0.26988	N	0.965205	B	0.09022	0.002	B	0.13407	0.009	T	0.32455	-0.9906	9	0.15952	T	0.53	.	6.2361	0.20764	0.1823:0.0:0.8177:0.0	.	233	Q2VIQ3	KIF4B_HUMAN	H	233	ENSP00000387875:R233H	ENSP00000387875:R233H	R	+	2	0	KIF4B	154374310	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	1.239000	0.32719	0.293000	0.22520	0.655000	0.94253	CGC		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			A	154394117	G	A	154394117	3	1	134	1	0	0	0	0	1	0	0	0	8304	1087	38	1	700	1	KIF4B	5	154394117	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	6573326	154394117	26521143	39	7306											
CYFIP2	408263	genome.wustl.edu	37	5	156768104	156768104	+	IGR	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr5:156768104C>G	ENST00000312349.4	-	0	2125				CYFIP2_ENST00000541131.1_Missense_Mutation_p.T796S|CYFIP2_ENST00000435847.2_Missense_Mutation_p.T570S|CYFIP2_ENST00000347377.6_Missense_Mutation_p.T871S|CYFIP2_ENST00000521420.1_Missense_Mutation_p.T845S|CYFIP2_ENST00000442283.2_Missense_Mutation_p.H155Q|CYFIP2_ENST00000318218.6_Missense_Mutation_p.T896S|CYFIP2_ENST00000522463.1_Missense_Mutation_p.T675S|CYFIP2_ENST00000377576.3_Missense_Mutation_p.T871S	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9							integral component of membrane (GO:0016021)		p.T896S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ATTCCTTTCACCCAAGAACCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	5											131	125	127					5																	156768104		1913	4133	6046	156700682	SO:0001628	intergenic_variant	26999			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248		5.37:g.156768104C>G			156700682	A8K0Y6	Missense_Mutation	SNP	ENST00000312349.4	37	CCDS4337.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.571|9.571	1.121027|1.121027	0.20877|0.20877	.|.	.|.	ENSG00000055163|ENSG00000055163	ENST00000442283|ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T|T;T;T;T;T;T;T	0.20881|0.20738	2.04|2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.08802|0.08802	0.0218|0.0218	N|N	0.01729|0.01729	-0.75|-0.75	0.36262|0.36262	D|D	0.854617|0.854617	.|B;B;B;B;B;B	.|0.18013	.|0.0;0.0;0.0;0.0;0.0;0.025	.|B;B;B;B;B;B	.|0.22880	.|0.002;0.004;0.004;0.001;0.004;0.042	T|T	0.14420|0.14420	-1.0473|-1.0473	7|10	0.30078|0.02654	T|T	0.28|1	-31.9782|-31.9782	18.4176|18.4176	0.90575|0.90575	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|735;675;845;871;871;896	.|A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.|.;.;.;.;.;CYFP2_HUMAN	Q|S	155|896;675;845;871;871;796;570	ENSP00000390948:H155Q|ENSP00000325817:T896S;ENSP00000428009:T675S;ENSP00000430904:T845S;ENSP00000313567:T871S;ENSP00000366799:T871S;ENSP00000444645:T796S;ENSP00000403793:T570S	ENSP00000390948:H155Q|ENSP00000325817:T896S	H|T	+|+	3|2	2|0	CYFIP2|CYFIP2	156700682|156700682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	7.776000|7.776000	0.85560|0.85560	2.342000|2.342000	0.79632|0.79632	0.313000|0.313000	0.20887|0.20887	CAC|ACC		0.468	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		G	156768104	C	G	156768104	1	3	134	0	1	0	0	0	0	0	0	0	4138	507	18	3		3	CYFIP2	5	156768104	IGR	SNP	C	TCGA-13-1488-01A-01W-0549-09	2373987	156768104	24147156	40	7307											
DOCK2	1794	genome.wustl.edu	37	5	169435500	169435500	+	Splice_Site	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr5:169435500G>T	ENST00000256935.8	+	31	3152		c.e31-1		DOCK2_ENST00000540750.1_Splice_Site|DOCK2_ENST00000520908.1_Splice_Site|DOCK2_ENST00000523351.1_Splice_Site	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.?(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATTTACAGCTGTGGAACA	0.443																																																1	Unknown(1)	ovary(1)	5											95	89	91					5																	169435500		2203	4300	6503	169368078	SO:0001630	splice_region_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3073-1G>T	5.37:g.169435500G>T			169368078	Q2M3I0|Q96AK7	Splice_Site	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910483	0.72983	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9357	0.97140	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK2	169368078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.715000	0.92844	0.655000	0.94253	.		0.443	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Intron	T	169435500	G	T	169435500	5	4	134	1	0	0	0	0	0	0	1	0	4687	985	34	3	3194	3	DOCK2	5	169435500	Splice_Site	SNP	G	TCGA-13-1488-01A-01W-0549-09	12667396	169435500	11479760	41	7308											
KIF13A	63971	genome.wustl.edu	37	6	17788078	17788078	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr6:17788078C>G	ENST00000259711.6	-	27	3395	c.3290G>C	c.(3289-3291)aGg>aCg	p.R1097T	KIF13A_ENST00000378816.5_Missense_Mutation_p.R1097T|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1084T|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1084T|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1097T	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1097					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1097T(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATCTGACCACCTCTCCCTTAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	6											290	266	273					6																	17788078		1898	4125	6023	17896057	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3290G>C	6.37:g.17788078C>G	ENSP00000259711:p.Arg1097Thr		17896057	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.364924|4.364924	0.82463|0.82463	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T;T	.|0.72051	.|-0.59;1.81;-0.62;-0.59;-0.59;-0.59	5.9|5.9	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75568|0.75568	0.3867|0.3867	L|L	0.53249|0.53249	1.67|1.67	0.47476|0.47476	D|D	0.999436|0.999436	.|P;D;P;D	.|0.89917	.|0.928;1.0;0.941;0.997	.|P;D;P;P	.|0.70716	.|0.693;0.97;0.856;0.897	T|T	0.79945|0.79945	-0.1589|-0.1589	5|10	.|0.87932	.|D	.|0	.|.	15.256|15.256	0.73585|0.73585	0.0:0.9327:0.0:0.0673|0.0:0.9327:0.0:0.0673	.|.	.|1084;1097;1097;1084	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	R|T	491|1084;101;1097;1097;1084;1097;95	.|ENSP00000368091:R1084T;ENSP00000425616:R101T;ENSP00000259711:R1097T;ENSP00000368103:R1097T;ENSP00000368120:R1084T;ENSP00000368093:R1097T	.|ENSP00000259711:R1097T	G|R	-|-	1|2	0|0	KIF13A|KIF13A	17896057|17896057	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.653000|2.653000	0.46691|0.46691	1.499000|1.499000	0.48617|0.48617	0.563000|0.563000	0.77884|0.77884	GGT|AGG		0.373	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			G	17788078	C	G	17788078	3	3	134	1	0	0	0	0	1	0	0	0	8274	681	24	3	2204	3	KIF13A	6	17788078	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09		17788078	153326989	42	7309											
HIST1H2BH	8345	genome.wustl.edu	37	6	26251910	26251910	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr6:26251910C>T	ENST00000356350.2	+	1	32	c.32C>T	c.(31-33)cCg>cTg	p.P11L	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	11					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.P11L(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GCTCCCGCCCCGAAGAAGGGC	0.527																																																1	Substitution - Missense(1)	ovary(1)	6											86	79	82					6																	26251910		2203	4300	6503	26359889	SO:0001583	missense	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.32C>T	6.37:g.26251910C>T	ENSP00000348706:p.Pro11Leu		26359889	B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293429	0.60086	.	.	ENSG00000197459	ENST00000356350	T	0.22743	1.94	4.52	3.65	0.41850	Histone-fold (2);	.	.	.	.	T	0.16257	0.0391	M	0.83312	2.635	0.41539	D	0.9885	B	0.17038	0.02	B	0.01281	0.0	T	0.10109	-1.0644	9	0.87932	D	0	.	12.4046	0.55432	0.0:0.9162:0.0:0.0838	.	11	Q93079	H2B1H_HUMAN	L	11	ENSP00000348706:P11L	ENSP00000348706:P11L	P	+	2	0	HIST1H2BH	26359889	0.437000	0.25593	0.053000	0.19242	0.016000	0.09150	3.026000	0.49689	1.215000	0.43411	0.655000	0.94253	CCG		0.527	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		T	26251910	C	T	26251910	3	4	134	1	0	0	0	0	1	0	0	0	7147	652	23	1	34	1	HIST1H2BH	6	26251910	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	8463832	26251910	144863157	43	7310											
EFHC1	114327	genome.wustl.edu	37	6	52317602	52317602	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr6:52317602T>A	ENST00000371068.5	+	4	793	c.690T>A	c.(688-690)gaT>gaA	p.D230E	EFHC1_ENST00000538167.1_Missense_Mutation_p.D211E|EFHC1_ENST00000433625.2_Missense_Mutation_p.D139E	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	230						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.D230E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CAGACTTTGATCAACTCAAGC	0.398																																																1	Substitution - Missense(1)	ovary(1)	6											154	147	149					6																	52317602		2203	4300	6503	52425561	SO:0001583	missense	114327			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.690T>A	6.37:g.52317602T>A	ENSP00000360107:p.Asp230Glu		52425561	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469182	0.84533	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.68624	-0.13;-0.34;-0.34	6.01	-0.392	0.12442	.	0.084947	0.85682	D	0.000000	T	0.65439	0.2691	M	0.79475	2.455	0.33509	D	0.590867	D;D;P	0.71674	0.998;0.974;0.803	P;P;B	0.61874	0.895;0.742;0.298	T	0.65047	-0.6263	10	0.32370	T	0.25	-13.4637	10.3406	0.43875	0.0:0.5797:0.0:0.4203	.	211;139;230	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	E	230;139;211	ENSP00000360107:D230E;ENSP00000416492:D139E;ENSP00000444521:D211E	ENSP00000360107:D230E	D	+	3	2	EFHC1	52425561	0.997000	0.39634	0.998000	0.56505	0.997000	0.91878	0.297000	0.19101	-0.035000	0.13691	0.533000	0.62120	GAT		0.398	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		A	52317602	T	A	52317602	3	1	134	1	0	0	0	0	1	0	0	0	4946	1432	50	5	714	5	EFHC1	6	52317602	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	26065692	52317602	118797465	44	7311											
THEMIS	387357	genome.wustl.edu	37	6	128222021	128222021	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr6:128222021C>A	ENST00000368248.2	-	1	205	c.57G>T	c.(55-57)agG>agT	p.R19S	THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000543064.1_Missense_Mutation_p.R19S|THEMIS_ENST00000368250.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	19	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R19S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTTCTAGAACCCTGGGTAGGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	6											197	194	195					6																	128222021		2203	4300	6503	128263714	SO:0001583	missense	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.57G>T	6.37:g.128222021C>A	ENSP00000357231:p.Arg19Ser		128263714	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705136	0.68615	.	.	ENSG00000172673	ENST00000543064;ENST00000368248	T;T	0.14893	2.47;2.47	5.55	-1.63	0.08345	.	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.977;0.999	P;D	0.85130	0.73;0.997	T	0.21211	-1.0252	10	0.87932	D	0	-3.5157	9.7792	0.40639	0.0:0.4213:0.0:0.5787	.	19;19	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	19	ENSP00000439594:R19S;ENSP00000357231:R19S	ENSP00000357231:R19S	R	-	3	2	THEMIS	128263714	0.963000	0.33076	0.968000	0.41197	0.961000	0.63080	-0.187000	0.09656	-0.151000	0.11176	0.591000	0.81541	AGG		0.438	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		A	128222021	C	A	128222021	3	1	134	1	0	0	0	0	1	0	0	0	15860	622	22	3	2013	3	THEMIS	6	128222021	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	75904419	128222021	42893046	45	7312											
PCLO	27445	genome.wustl.edu	37	7	82764557	82764557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr7:82764557G>T	ENST00000333891.9	-	3	2646	c.2309C>A	c.(2308-2310)tCa>tAa	p.S770*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.S770*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S716*(1)|p.S770*(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGCTGATGATGAAGATAC	0.463																																																2	Substitution - Nonsense(2)	ovary(2)	7											202	183	189					7																	82764557		1913	4132	6045	82602493	SO:0001587	stop_gained	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2309C>A	7.37:g.82764557G>T	ENSP00000334319:p.Ser770*		82602493		Nonsense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	41	8.629078	0.98892	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.83	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.3901	0.38367	0.2775:0.0:0.7225:0.0	.	.	.	.	X	716;770;770	.	ENSP00000334319:S770X	S	-	2	0	PCLO	82602493	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	0.436000	0.21526	0.103000	0.17682	0.591000	0.81541	TCA		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82764557	G	T	82764557	4	4	134	1	0	0	0	0	0	1	0	0	11583	1294	45	3	13228	3	PCLO	7	82764557	Nonsense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09		82764557	76374106	46	7313											
PCLO	27445	genome.wustl.edu	37	7	82784253	82784253	+	Silent	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr7:82784253C>T	ENST00000333891.9	-	2	2041	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q	PCLO_ENST00000423517.2_Silent_p.Q568Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q568Q(1)|p.Q514Q(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTTGGTGGCTGCAGAGGTT	0.502																																																2	Substitution - coding silent(2)	ovary(2)	7											339	340	339					7																	82784253		2007	4170	6177	82622189	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1704G>A	7.37:g.82784253C>T			82622189		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82784253	C	T	82784253	2	4	134	1	0	0	0	0	0	0	0	1	11583	796	28	2		2	PCLO	7	82784253	Silent	SNP	C	TCGA-13-1488-01A-01W-0549-09	19696	82784253	76354410	47	7314											
ABCB4	5244	genome.wustl.edu	37	7	87068987	87068987	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr7:87068987T>C	ENST00000265723.4	-	14	1838	c.1727A>G	c.(1726-1728)gAt>gGt	p.D576G	ABCB4_ENST00000358400.3_Missense_Mutation_p.D576G|ABCB4_ENST00000545634.1_Missense_Mutation_p.D576G|ABCB4_ENST00000453593.1_Missense_Mutation_p.D576G|ABCB4_ENST00000359206.3_Missense_Mutation_p.D576G	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	576	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.D576G(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACTGACCTTATCCAGAGCTGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	7											136	120	125					7																	87068987		2203	4300	6503	86906923	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1727A>G	7.37:g.87068987T>C	ENSP00000265723:p.Asp576Gly		86906923	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248167	0.80024	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.55	4.4	0.53042	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	L	0.35288	1.05	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.993	D;D;D	0.71414	0.952;0.973;0.94	D	0.85616	0.1261	10	0.87932	D	0	-19.8113	11.3834	0.49771	0.0:0.071:0.0:0.929	.	576;576;576	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	G	576	ENSP00000352135:D576G;ENSP00000351172:D576G;ENSP00000265723:D576G;ENSP00000392983:D576G;ENSP00000437465:D576G	ENSP00000265723:D576G	D	-	2	0	ABCB4	86906923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.297000	0.72757	0.935000	0.37341	0.533000	0.62120	GAT		0.498	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		C	87068987	T	C	87068987	3	2	134	1	0	0	0	0	1	0	0	0	43	1435	50	4	2193	4	ABCB4	7	87068987	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	4284734	87068987	72069676	48	7315											
ZNF800	168850	genome.wustl.edu	37	7	127014462	127014462	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr7:127014462G>A	ENST00000393313.1	-	5	1519	c.928C>T	c.(928-930)Cat>Tat	p.H310Y	ZNF800_ENST00000393312.1_Missense_Mutation_p.H310Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.H310Y|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H310Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTCCTCTATGAACTTCATCA	0.373																																																2	Substitution - Missense(2)	ovary(2)	7											97	95	96					7																	127014462		2203	4300	6503	126801698	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.928C>T	7.37:g.127014462G>A	ENSP00000376989:p.His310Tyr		126801698	Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138096	0.56936	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	D;D;D	0.85955	-2.05;-2.05;-2.05	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.87857	0.6283	L	0.27053	0.805	0.27194	N	0.960336	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.86258	0.1653	8	.	.	.	-0.7997	18.7799	0.91928	0.0:0.0:1.0:0.0	.	213;310	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	310	ENSP00000376989:H310Y;ENSP00000265827:H310Y;ENSP00000376988:H310Y	.	H	-	1	0	ZNF800	126801698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.685000	0.91497	0.650000	0.86243	CAT		0.373	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		A	127014462	G	A	127014462	3	1	134	1	0	0	0	0	1	0	0	0	18169	1290	45	2	1074	2	ZNF800	7	127014462	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	39945475	127014462	32124201	49	7316											
CTAGE4	100128553	genome.wustl.edu	37	7	143882794	143882794	+	Missense_Mutation	SNP	C	C	T	rs545239580	byFrequency	TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr7:143882794C>T	ENST00000486333.1	+	1	2236	c.2198C>T	c.(2197-2199)tCt>tTt	p.S733F		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	733	Pro-rich.					integral component of membrane (GO:0016021)		p.S733F(1)		endometrium(1)|ovary(2)	3						TTTGGAGCTTCTCGAGGTTAT	0.512																																																1	Substitution - Missense(1)	ovary(1)	7											1	1	1					7																	143882794		134	463	597	143513727	SO:0001583	missense	100128553			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2198C>T	7.37:g.143882794C>T	ENSP00000419539:p.Ser733Phe		143513727	A8K871|O95046	RNA	SNP	ENST00000486333.1	37	CCDS55176.1	.	.	.	.	.	.	.	.	.	.	.	6.035	0.374874	0.11409	.	.	ENSG00000225932	ENST00000486333	T	0.38560	1.13	.	.	.	.	.	.	.	.	T	0.53916	0.1826	M	0.73962	2.25	0.09310	N	1	D	0.67145	0.996	D	0.68621	0.959	T	0.48843	-0.8999	7	0.72032	D	0.01	.	.	.	.	.	733	Q8IX94	CTGE4_HUMAN	F	733	ENSP00000419539:S733F	ENSP00000419539:S733F	S	+	2	0	CTAGE4	143513727	0.999000	0.42202	0.158000	0.22627	0.160000	0.22226	0.934000	0.28910	-1.351000	0.02197	-1.360000	0.01215	TCT		0.512	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495		T	143882794	C	T	143882794	3	4	134	1	0	0	0	0	1	0	0	0	3993	913	32	2	2200	2	CTAGE4	7	143882794	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	16868332	143882794	15255869	50	7317											
PPP1R3B	79660	genome.wustl.edu	37	8	8998433	8998433	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr8:8998433C>A	ENST00000310455.3	-	2	879	c.729G>T	c.(727-729)atG>atT	p.M243I	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.M243I|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	243					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)	p.M243I(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GGGGCTTGGTCATTCCCTGGG	0.502																																																1	Substitution - Missense(1)	ovary(1)	8											185	179	181					8																	8998433		2203	4300	6503	9035843	SO:0001583	missense	79660			AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.729G>T	8.37:g.8998433C>A	ENSP00000308318:p.Met243Ile		9035843	B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	C	0.530	-0.858454	0.02610	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.41065	1.01;1.01	5.71	-4.12	0.03916	.	1.585610	0.03424	N	0.206711	T	0.20047	0.0482	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07927	-1.0747	10	0.37606	T	0.19	-0.1007	3.0077	0.06034	0.146:0.3745:0.3151:0.1645	.	243	Q86XI6	PPR3B_HUMAN	I	243	ENSP00000308318:M243I;ENSP00000428642:M243I	ENSP00000308318:M243I	M	-	3	0	PPP1R3B	9035843	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.321000	0.00513	-1.338000	0.02233	0.561000	0.74099	ATG		0.502	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		A	8998433	C	A	8998433	3	1	134	1	0	0	0	0	1	0	0	0	12375	826	29	3	132	3	PPP1R3B	8	8998433	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09		8998433	137365589	51	7318											
NAT2	10	genome.wustl.edu	37	8	18258187	18258187	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr8:18258187T>C	ENST00000286479.3	+	2	781	c.674T>C	c.(673-675)tTg>tCg	p.L225S	NAT2_ENST00000520116.1_Missense_Mutation_p.L95S	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	225					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)	p.L225S(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	TTTTGTTCCTTGCAGACCCCA	0.383									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							1	Substitution - Missense(1)	ovary(1)	8											78	81	80					8																	18258187		2203	4300	6503	18302467	SO:0001583	missense	10	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.674T>C	8.37:g.18258187T>C	ENSP00000286479:p.Leu225Ser		18302467	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.764053	0.49574	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.02015	4.5;4.5	2.86	2.86	0.33363	.	0.085278	0.47093	D	0.000258	T	0.14527	0.0351	M	0.93241	3.395	0.44214	D	0.997042	D	0.89917	1.0	D	0.87578	0.998	T	0.00258	-1.1871	10	0.87932	D	0	.	7.5312	0.27685	0.0:0.0:0.0:1.0	.	225	A4Z6T7	.	S	225;95	ENSP00000286479:L225S;ENSP00000428416:L95S	ENSP00000286479:L225S	L	+	2	0	NAT2	18302467	0.995000	0.38212	1.000000	0.80357	0.775000	0.43874	3.646000	0.54396	1.546000	0.49388	0.358000	0.22013	TTG		0.383	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		C	18258187	T	C	18258187	3	2	134	1	0	0	0	0	1	0	0	0	10177	1821	63	4	676	4	NAT2	8	18258187	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	9259754	18258187	128105835	52	7319											
DOCK5	80005	genome.wustl.edu	37	8	25136102	25136102	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr8:25136102T>C	ENST00000276440.7	+	5	286	c.242T>C	c.(241-243)aTt>aCt	p.I81T	DOCK5_ENST00000481100.1_Missense_Mutation_p.I81T	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	81					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.I81T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAACCGTGATTCCTGGCGAG	0.537																																					Pancreas(145;34 1887 3271 10937 30165)											1	Substitution - Missense(1)	ovary(1)	8											137	114	122					8																	25136102		2203	4300	6503	25192019	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.242T>C	8.37:g.25136102T>C	ENSP00000276440:p.Ile81Thr		25192019	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695697	0.48202	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.59224	0.28;0.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.68317	2.08	0.48571	D	0.999672	B	0.11235	0.004	B	0.15484	0.013	T	0.54262	-0.8320	10	0.44086	T	0.13	.	14.5614	0.68140	0.0:0.0:0.0:1.0	.	81	Q9H7D0	DOCK5_HUMAN	T	81	ENSP00000429737:I81T;ENSP00000276440:I81T	ENSP00000276440:I81T	I	+	2	0	DOCK5	25192019	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.977000	0.70492	2.324000	0.78689	0.533000	0.62120	ATT		0.537	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		C	25136102	T	C	25136102	3	2	134	1	0	0	0	0	1	0	0	0	4690	1493	52	4	260	4	DOCK5	8	25136102	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	6877915	25136102	121227920	53	7320											
ADRA1A	148	genome.wustl.edu	37	8	26721719	26721719	+	Missense_Mutation	SNP	G	G	C	rs569147612		TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr8:26721719G>C	ENST00000519229.1	-	1	774	c.768C>G	c.(766-768)caC>caG	p.H256Q	ADRA1A_ENST00000380586.1_Missense_Mutation_p.H256Q|ADRA1A_ENST00000380572.3_Missense_Mutation_p.H256Q|ADRA1A_ENST00000380573.3_Missense_Mutation_p.H256Q|ADRA1A_ENST00000358857.5_Missense_Mutation_p.H256Q|ADRA1A_ENST00000380582.3_Missense_Mutation_p.H256Q|ADRA1A_ENST00000276393.4_Missense_Mutation_p.H256Q|ADRA1A_ENST00000380581.2_Missense_Mutation_p.H256Q|ADRA1A_ENST00000380587.1_Missense_Mutation_p.H256Q|ADRA1A_ENST00000354550.4_Missense_Mutation_p.H256Q			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	332					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.H256Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TCACTGAGAAGTGCGTCTTGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	8											55	50	52					8																	26721719		2203	4300	6503	26777636	SO:0001583	missense	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.768C>G	8.37:g.26721719G>C	ENSP00000430793:p.His256Gln		26777636	Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37		.	.	.	.	.	.	.	.	.	.	G	14.22	2.469545	0.43839	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	D;D;D;D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.27	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000156	D	0.88797	0.6534	L	0.38649	1.16	0.42954	D	0.994385	D;P;P;D;D;D	0.64830	0.964;0.94;0.952;0.964;0.994;0.99	P;P;P;P;P;P	0.59221	0.749;0.681;0.786;0.681;0.854;0.837	D	0.88194	0.2879	10	0.48119	T	0.1	.	10.9021	0.47058	0.2149:0.0:0.7851:0.0	.	256;256;256;256;256;256	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	Q	256	ENSP00000369960:H256Q;ENSP00000369961:H256Q;ENSP00000369956:H256Q;ENSP00000369955:H256Q;ENSP00000430793:H256Q;ENSP00000346557:H256Q;ENSP00000276393:H256Q;ENSP00000369947:H256Q;ENSP00000369946:H256Q;ENSP00000351725:H256Q	ENSP00000276393:H256Q	H	-	3	2	ADRA1A	26777636	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.032000	0.30178	1.349000	0.45751	0.563000	0.77884	CAC		0.607	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		C	26721719	G	C	26721719	3	2	134	1	0	0	0	0	1	0	0	0	334	1020	36	3	931	3	ADRA1A	8	26721719	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	1585617	26721719	119642303	54	7321											
ZFHX4	79776	genome.wustl.edu	37	8	77768157	77768157	+	Silent	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr8:77768157C>T	ENST00000521891.2	+	10	9448	c.9000C>T	c.(8998-9000)ggC>ggT	p.G3000G	ZFHX4_ENST00000050961.6_Silent_p.G2955G|ZFHX4_ENST00000518282.1_Silent_p.G2974G|ZFHX4_ENST00000455469.2_Silent_p.G2955G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2955					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G2984G(3)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAATCAAGGCGGAACGGAAG	0.468										HNSCC(33;0.089)																																						3	Substitution - coding silent(3)	ovary(1)|large_intestine(1)|endometrium(1)	8											45	44	44					8																	77768157		1913	4126	6039	77930712	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9000C>T	8.37:g.77768157C>T			77930712	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77768157	C	T	77768157	2	4	134	1	0	0	0	0	0	0	0	1	17635	755	27	1		1	ZFHX4	8	77768157	Silent	SNP	C	TCGA-13-1488-01A-01W-0549-09	51046438	77768157	68595865	55	7322											
VPS13B	157680	genome.wustl.edu	37	8	100287354	100287354	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr8:100287354C>A	ENST00000358544.2	+	19	2807	c.2696C>A	c.(2695-2697)tCt>tAt	p.S899Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.S899Y|VPS13B_ENST00000395996.1_Missense_Mutation_p.S899Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	899					protein transport (GO:0015031)			p.S899Y(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGGTCCTTCTGACACTAAA	0.378																																					Colon(161;2205 2542 7338 31318)											1	Substitution - Missense(1)	ovary(1)	8											88	86	87					8																	100287354		2203	4300	6503	100356530	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2696C>A	8.37:g.100287354C>A	ENSP00000351346:p.Ser899Tyr		100356530	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446266	0.84101	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.70869	-0.52;-0.52;-0.22	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.78541	0.4299	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;P	0.87578	0.998;0.998;0.996;0.904	T	0.80491	-0.1359	10	0.72032	D	0.01	.	19.5442	0.95284	0.0:1.0:0.0:0.0	.	899;899;899;899	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	Y	899	ENSP00000349685:S899Y;ENSP00000351346:S899Y;ENSP00000379318:S899Y	ENSP00000349685:S899Y	S	+	2	0	VPS13B	100356530	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.179000	0.77665	2.614000	0.88457	0.591000	0.81541	TCT		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100287354	C	A	100287354	3	1	134	1	0	0	0	0	1	0	0	0	17190	913	32	3	2889	3	VPS13B	8	100287354	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	22519197	100287354	46076668	56	7323											
DENND3	22898	genome.wustl.edu	37	8	142176356	142176356	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr8:142176356C>T	ENST00000262585.2	+	12	1659	c.1381C>T	c.(1381-1383)Cac>Tac	p.H461Y	DENND3_ENST00000519811.1_Missense_Mutation_p.H541Y|DENND3_ENST00000424248.1_Missense_Mutation_p.H409Y	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	461					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.H461Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTCCTCGCACCTGCATGT	0.552																																																1	Substitution - Missense(1)	ovary(1)	8											124	133	130					8																	142176356		2203	4300	6503	142245538	SO:0001583	missense	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1381C>T	8.37:g.142176356C>T	ENSP00000262585:p.His461Tyr		142245538	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.144|0.144	-1.098824|-1.098824	0.01843|0.01843	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811	.|T;T;T	.|0.13538	.|2.95;2.58;2.96	5.12|5.12	-0.202|-0.202	0.13208|0.13208	.|.	.|1.464360	.|0.03885	.|N	.|0.277673	T|T	0.06142|0.06142	0.0159|0.0159	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25955	.|0.138;0.098;0.059	.|B;B;B	.|0.18263	.|0.015;0.021;0.009	T|T	0.27400|0.27400	-1.0075|-1.0075	5|10	.|0.02654	.|T	.|1	-23.384|-23.384	8.4889|8.4889	0.33089|0.33089	0.0:0.4475:0.3535:0.199|0.0:0.4475:0.3535:0.199	.|.	.|541;409;461	.|E9PF32;A2RUS2-2;A2RUS2	.|.;.;DEND3_HUMAN	V|Y	465|461;409;541	.|ENSP00000262585:H461Y;ENSP00000410594:H409Y;ENSP00000428714:H541Y	.|ENSP00000262585:H461Y	A|H	+|+	2|1	0|0	DENND3|DENND3	142245538|142245538	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.376000|-1.376000	0.02561|0.02561	-0.040000|-0.040000	0.13580|0.13580	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		T	142176356	C	T	142176356	3	4	134	1	0	0	0	0	1	0	0	0	4432	710	25	2	1423	2	DENND3	8	142176356	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	41889002	142176356	4187666	57	7324											
DMRT3	58524	genome.wustl.edu	37	9	990732	990732	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr9:990732C>A	ENST00000190165.2	+	2	1184	c.1146C>A	c.(1144-1146)agC>agA	p.S382R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	382					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S382R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCCAGTCGAGCCCCTTTTTGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	9											55	49	51					9																	990732		2203	4300	6503	980732	SO:0001583	missense	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1146C>A	9.37:g.990732C>A	ENSP00000190165:p.Ser382Arg		980732	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608224	0.46527	.	.	ENSG00000064218	ENST00000190165	T	0.26957	1.7	5.01	4.11	0.48088	.	0.230969	0.44285	D	0.000473	T	0.30572	0.0769	L	0.29908	0.895	0.44055	D	0.996797	D	0.67145	0.996	P	0.56788	0.806	T	0.05007	-1.0912	10	0.87932	D	0	-25.9007	10.1969	0.43060	0.0:0.7885:0.0:0.2115	.	382	Q9NQL9	DMRT3_HUMAN	R	382	ENSP00000190165:S382R	ENSP00000190165:S382R	S	+	3	2	DMRT3	980732	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.060000	0.30530	1.110000	0.41699	-0.258000	0.10820	AGC		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		A	990732	C	A	990732	3	1	134	1	0	0	0	0	1	0	0	0	4587	738	26	3	1152	3	DMRT3	9	990732	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09		990732	140222699	58	7325											
PIGO	84720	genome.wustl.edu	37	9	35091323	35091323	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr9:35091323C>T	ENST00000378617.3	-	7	2955	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R854H|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	854					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.R854H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGGCTGATGCGCTCCGCATG	0.547																																																1	Substitution - Missense(1)	ovary(1)	9											100	93	95					9																	35091323		2203	4300	6503	35081323	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2561G>A	9.37:g.35091323C>T	ENSP00000367880:p.Arg854His		35081323	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027958	0.75390	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.55930	0.49;0.49	5.44	5.44	0.79542	.	0.178213	0.49916	D	0.000137	T	0.60971	0.2310	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.60342	-0.7282	10	0.46703	T	0.11	-31.0701	19.4628	0.94924	0.0:1.0:0.0:0.0	.	854	Q8TEQ8	PIGO_HUMAN	H	854	ENSP00000367880:R854H;ENSP00000339382:R854H	ENSP00000339382:R854H	R	-	2	0	PIGO	35081323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.465000	0.73538	2.837000	0.97791	0.655000	0.94253	CGC		0.547	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		T	35091323	C	T	35091323	3	4	134	1	0	0	0	0	1	0	0	0	11894	768	27	1	728	1	PIGO	9	35091323	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	34100591	35091323	106122108	59	7326											
SECISBP2	79048	genome.wustl.edu	37	9	91943768	91943768	+	Silent	SNP	A	A	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr9:91943768A>G	ENST00000375807.3	+	5	839	c.768A>G	c.(766-768)agA>agG	p.R256R	SECISBP2_ENST00000339901.4_Silent_p.R183R|SECISBP2_ENST00000534113.2_Silent_p.R188R|SECISBP2_ENST00000470305.1_3'UTR	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	256					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.R256R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CTCTTCTAAGAGAAGTAGTAA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	9											56	54	55					9																	91943768		2203	4300	6503	91133588	SO:0001819	synonymous_variant	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.768A>G	9.37:g.91943768A>G			91133588	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	CCDS6683.1																																																																																				0.408	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		G	91943768	A	G	91943768	2	3	134	1	0	0	0	0	0	0	0	1	14009	301	11	4		4	SECISBP2	9	91943768	Silent	SNP	A	TCGA-13-1488-01A-01W-0549-09	56852445	91943768	49269663	60	7327											
HIATL1	84641	genome.wustl.edu	37	9	97200742	97200742	+	Silent	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr9:97200742G>A	ENST00000375344.3	+	4	596	c.327G>A	c.(325-327)agG>agA	p.R109R	HIATL1_ENST00000428393.2_Silent_p.R44R	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	109					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R109R(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TGTGGGGGAGGAAGCCCTTTC	0.517																																					Pancreas(77;1260 1915 1973 10423)											1	Substitution - coding silent(1)	ovary(1)	9											70	67	68					9																	97200742		2203	4297	6500	96240563	SO:0001819	synonymous_variant	84641			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.327G>A	9.37:g.97200742G>A			96240563	B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	ENST00000375344.3	37	CCDS6710.2																																																																																				0.517	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		A	97200742	G	A	97200742	2	1	134	1	0	0	0	0	0	0	0	1	7098	1165	41	2		2	HIATL1	9	97200742	Silent	SNP	G	TCGA-13-1488-01A-01W-0549-09	5256974	97200742	44012689	61	7328											
PALM2	114299	genome.wustl.edu	37	9	112687348	112687348	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr9:112687348C>A	ENST00000374531.2	+	6	460	c.386C>A	c.(385-387)tCc>tAc	p.S129Y	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S127Y|PALM2_ENST00000314527.4_Missense_Mutation_p.S127Y|PALM2_ENST00000448454.2_Missense_Mutation_p.S129Y|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.S127Y|AKAP2_ENST00000555236.1_Missense_Mutation_p.S127Y|PALM2_ENST00000483909.1_Missense_Mutation_p.S127Y|AKAP2_ENST00000510514.5_Missense_Mutation_p.S127Y	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	129					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.S129Y(1)|p.S127Y(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CAGGGTTTCTCCAGTACGGAT	0.463																																																2	Substitution - Missense(2)	ovary(2)	9											230	196	208					9																	112687348		2203	4300	6503	111727169	SO:0001583	missense	445815			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.386C>A	9.37:g.112687348C>A	ENSP00000363656:p.Ser129Tyr		111727169	A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216873	0.79352	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.32515	2.25;2.31;2.25;2.31;1.45;2.13;2.31;2.13;2.13;2.13	5.42	5.42	0.78866	.	0.865894	0.09880	N	0.743803	T	0.45637	0.1352	L	0.29908	0.895	0.36265	D	0.854774	D;D;P;D	0.61697	0.99;0.99;0.6;0.975	D;D;P;P	0.63192	0.912;0.912;0.505;0.596	T	0.48885	-0.8995	10	0.87932	D	0	-0.1798	16.7371	0.85449	0.0:1.0:0.0:0.0	.	127;127;129;129	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	Y	129;129;127;127;113;127;127;127;127;127	ENSP00000363656:S129Y;ENSP00000400206:S129Y;ENSP00000417525:S127Y;ENSP00000323805:S127Y;ENSP00000419747:S113Y;ENSP00000363654:S127Y;ENSP00000397839:S127Y;ENSP00000305861:S127Y;ENSP00000451476:S127Y;ENSP00000421522:S127Y	ENSP00000305861:S127Y	S	+	2	0	PALM2-AKAP2;PALM2;AKAP2	111727169	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.124000	0.57924	2.695000	0.91970	0.655000	0.94253	TCC		0.463	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		A	112687348	C	A	112687348	3	1	134	1	0	0	0	0	1	0	0	0	11409	855	30	3	408	3	PALM2	9	112687348	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	15486606	112687348	28526083	62	7329											
HSPA5	3309	genome.wustl.edu	37	9	128001074	128001074	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr9:128001074C>A	ENST00000324460.6	-	6	1232	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	343					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.Q343H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CCAACACTTTCTGGACGGGCT	0.393										Prostate(1;0.17)																																						1	Substitution - Missense(1)	ovary(1)	9											72	71	71					9																	128001074		2203	4300	6503	127040895	SO:0001583	missense	3309				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1029G>T	9.37:g.128001074C>A	ENSP00000324173:p.Gln343His		127040895	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278129	0.59758	.	.	ENSG00000044574	ENST00000324460	T	0.01043	5.41	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.02193	0.0068	L	0.60845	1.875	0.80722	D	1	B	0.20164	0.042	B	0.23150	0.044	T	0.51172	-0.8739	10	0.87932	D	0	-25.2689	15.61	0.76707	0.0:1.0:0.0:0.0	.	343	P11021	GRP78_HUMAN	H	343	ENSP00000324173:Q343H	ENSP00000324173:Q343H	Q	-	3	2	HSPA5	127040895	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	1.883000	0.54544	0.563000	0.77884	CAG		0.393	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			A	128001074	C	A	128001074	3	1	134	1	0	0	0	0	1	0	0	0	7414	912	32	3	947	3	HSPA5	9	128001074	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	15313726	128001074	13212357	63	7330											
KIAA1217	56243	genome.wustl.edu	37	10	24762215	24762215	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr10:24762215C>T	ENST00000376454.3	+	6	935	c.905C>T	c.(904-906)tCt>tTt	p.S302F	KIAA1217_ENST00000430453.2_Missense_Mutation_p.S223F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S302F|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S20F|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S20F|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S222F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S302F|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S20F|KIAA1217_ENST00000376451.2_Missense_Mutation_p.S20F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	302	Pro-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.S302F(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGCCCCGGATCTACTGCTCAT	0.537																																																1	Substitution - Missense(1)	ovary(1)	10											83	79	80					10																	24762215		2203	4300	6503	24802221	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.905C>T	10.37:g.24762215C>T	ENSP00000365637:p.Ser302Phe		24802221	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713282	0.48517	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;0.88;0.88;0.88;0.88	5.21	5.21	0.72293	.	0.459032	0.26727	N	0.022801	T	0.76090	0.3939	M	0.64997	1.995	0.58432	D	0.999996	D;P;P;D;D;D;D;P	0.65815	0.995;0.954;0.94;0.987;0.987;0.971;0.972;0.874	P;P;P;P;P;P;P;P	0.62089	0.898;0.646;0.809;0.882;0.882;0.841;0.739;0.735	T	0.77587	-0.2532	10	0.66056	D	0.02	.	18.9385	0.92595	0.0:1.0:0.0:0.0	.	302;302;20;20;20;20;302;302	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	F	222;302;302;20;302;302;152;223;20;20;20;20;20	ENSP00000365645:S222F;ENSP00000365639:S302F;ENSP00000392625:S302F;ENSP00000365637:S302F;ENSP00000365635:S302F;ENSP00000404798:S152F;ENSP00000389680:S223F;ENSP00000302343:S20F;ENSP00000379722:S20F;ENSP00000365634:S20F;ENSP00000379723:S20F	ENSP00000302343:S20F	S	+	2	0	KIAA1217	24802221	1.000000	0.71417	0.850000	0.33497	0.010000	0.07245	5.378000	0.66190	2.723000	0.93209	0.650000	0.86243	TCT		0.537	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		T	24762215	C	T	24762215	3	4	134	1	0	0	0	0	1	0	0	0	8216	913	32	2	927	2	KIAA1217	10	24762215	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09		24762215	110772532	64	7331											
KIAA1279	26128	genome.wustl.edu	37	10	70776166	70776166	+	Silent	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr10:70776166G>A	ENST00000361983.4	+	7	1962	c.1860G>A	c.(1858-1860)ctG>ctA	p.L620L		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	620					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)	p.L620L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AGATGGCCCTGACTTAATCCT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	10											36	38	37					10																	70776166		2200	4298	6498	70446172	SO:0001819	synonymous_variant	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1860G>A	10.37:g.70776166G>A			70446172	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Silent	SNP	ENST00000361983.4	37	CCDS7284.1																																																																																				0.398	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		A	70776166	G	A	70776166	2	1	134	1	0	0	0	0	0	0	0	1	8221	1277	45	2		2	KIAA1279	10	70776166	Silent	SNP	G	TCGA-13-1488-01A-01W-0549-09	46013951	70776166	64758581	65	7332											
LIPJ	142910	genome.wustl.edu	37	10	90366438	90366438	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr10:90366438C>A	ENST00000371939.3	+	11	1189	c.875C>A	c.(874-876)tCt>tAt	p.S292Y		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	292					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)	p.S292Y(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CAGACAACGTCTCCATTATAC	0.313																																																1	Substitution - Missense(1)	ovary(1)	10											66	66	66					10																	90366438		2203	4300	6503	90356418	SO:0001583	missense	142910			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.875C>A	10.37:g.90366438C>A	ENSP00000361007:p.Ser292Tyr		90356418	A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871547	0.51695	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.76186	-1.0;-1.0	5.55	5.55	0.83447	Alpha/beta hydrolase fold-1 (1);	0.887861	0.09487	N	0.795544	D	0.83261	0.5216	L	0.56769	1.78	0.33322	D	0.567394	D	0.55800	0.973	P	0.56163	0.793	D	0.83977	0.0330	10	0.87932	D	0	-25.8379	18.2688	0.90062	0.0:1.0:0.0:0.0	.	292	Q5W064	LIPJ_HUMAN	Y	292;107	ENSP00000361007:S292Y;ENSP00000434211:S107Y	ENSP00000361007:S292Y	S	+	2	0	LIPJ	90356418	0.946000	0.32159	0.767000	0.31495	0.079000	0.17450	4.883000	0.63128	2.608000	0.88229	0.655000	0.94253	TCT		0.313	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		A	90366438	C	A	90366438	3	1	134	1	0	0	0	0	1	0	0	0	8826	913	32	3	909	3	LIPJ	10	90366438	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	19590272	90366438	45168309	66	7333											
ADD3	120	genome.wustl.edu	37	10	111892070	111892070	+	Missense_Mutation	SNP	G	G	C	rs370817501		TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr10:111892070G>C	ENST00000356080.4	+	14	2107	c.1740G>C	c.(1738-1740)gaG>gaC	p.E580D	ADD3_ENST00000360162.3_Intron|ADD3_ENST00000277900.8_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	580						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.E580D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CAGATGCTGAGCAGGAATTAC	0.378																																																1	Substitution - Missense(1)	ovary(1)	10											89	87	88					10																	111892070		2203	4300	6503	111882060	SO:0001583	missense	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1740G>C	10.37:g.111892070G>C	ENSP00000348381:p.Glu580Asp		111882060	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671067	0.29693	.	.	ENSG00000148700	ENST00000356080	T	0.17854	2.25	5.51	4.59	0.56863	.	0.543845	0.21621	N	0.071659	T	0.09992	0.0245	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17806	-1.0357	10	0.21014	T	0.42	-17.8713	7.6468	0.28325	0.0804:0.0:0.6256:0.2941	.	580	Q9UEY8	ADDG_HUMAN	D	580	ENSP00000348381:E580D	ENSP00000348381:E580D	E	+	3	2	ADD3	111882060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.992000	0.49417	1.284000	0.44531	0.655000	0.94253	GAG		0.378	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		C	111892070	G	C	111892070	3	2	134	1	0	0	0	0	1	0	0	0	306	962	34	3	1790	3	ADD3	10	111892070	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	21525632	111892070	23642677	67	7334											
C10orf84	63877	genome.wustl.edu	37	10	120085707	120085707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr10:120085707C>A	ENST00000369183.4	-	7	761	c.502G>T	c.(502-504)Gag>Tag	p.E168*	FAM204A_ENST00000369172.4_Nonsense_Mutation_p.E168*|FAM204A_ENST00000469758.1_5'UTR	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	168								p.E168*(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						TCAGCCTTCTCAATATTCCAC	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	10											117	117	117					10																	120085707		2203	4300	6503	120075697	SO:0001587	stop_gained	63877			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 84"	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.502G>T	10.37:g.120085707C>A	ENSP00000358183:p.Glu168*		120075697	D3DRC6|Q5T373|Q9H5V5	Nonsense_Mutation	SNP	ENST00000369183.4	37	CCDS7605.1	.	.	.	.	.	.	.	.	.	.	C	39	7.750483	0.98468	.	.	ENSG00000165669	ENST00000369183;ENST00000369172	.	.	.	5.71	5.71	0.89125	.	0.148904	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-20.2684	20.2849	0.98532	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000358170:E168X	E	-	1	0	FAM204A	120075697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.133000	0.57983	2.873000	0.98535	0.644000	0.83932	GAG		0.388	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063		A	120085707	C	A	120085707	4	1	134	1	0	0	0	0	0	1	0	0	1621	835	29	3	211	3	C10orf84	10	120085707	Nonsense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	8193637	120085707	15449040	68	7335											
NAV2	89797	genome.wustl.edu	37	11	20119198	20119198	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr11:20119198G>C	ENST00000396087.3	+	34	6364	c.6265G>C	c.(6265-6267)Gaa>Caa	p.E2089Q	NAV2_ENST00000311043.8_Missense_Mutation_p.E1094Q|NAV2_ENST00000533917.1_Missense_Mutation_p.E1094Q|NAV2_ENST00000527559.2_Missense_Mutation_p.E2018Q|NAV2_ENST00000540292.1_Missense_Mutation_p.E2020Q|NAV2_ENST00000349880.4_Missense_Mutation_p.E2030Q|NAV2_ENST00000396085.1_Missense_Mutation_p.E2033Q|NAV2_ENST00000360655.4_Missense_Mutation_p.E1966Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2089					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.E2089Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCATTGGAGAAATCAAGCG	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											118	114	115					11																	20119198		2203	4300	6503	20075774	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6265G>C	11.37:g.20119198G>C	ENSP00000379396:p.Glu2089Gln		20075774	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694822	0.68386	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.31247	1.5;1.6;1.61;1.61;1.51;1.51;3.11;3.11	5.78	5.78	0.91487	.	0.165962	0.41938	D	0.000796	T	0.48572	0.1507	L	0.42245	1.32	0.80722	D	1	P;D;D;D	0.63880	0.928;0.961;0.993;0.969	P;P;D;P	0.65573	0.672;0.691;0.936;0.811	T	0.11941	-1.0567	9	.	.	.	.	19.9617	0.97254	0.0:0.0:1.0:0.0	.	2033;1094;2030;1966	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	Q	1966;2033;2030;2089;2018;2020;1094;1094	ENSP00000353871:E1966Q;ENSP00000379394:E2033Q;ENSP00000309577:E2030Q;ENSP00000379396:E2089Q;ENSP00000435395:E2018Q;ENSP00000443489:E2020Q;ENSP00000437316:E1094Q;ENSP00000312169:E1094Q	.	E	+	1	0	NAV2	20075774	1.000000	0.71417	0.984000	0.44739	0.119000	0.20118	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	GAA		0.458	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		C	20119198	G	C	20119198	3	2	134	1	0	0	0	0	1	0	0	0	10184	943	33	3	6328	3	NAV2	11	20119198	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09		20119198	114887318	69	7336											
KBTBD4	55709	genome.wustl.edu	37	11	47597234	47597234	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr11:47597234G>T	ENST00000526005.1	-	3	760	c.607C>A	c.(607-609)Cag>Aag	p.Q203K	RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.Q228K|KBTBD4_ENST00000525720.1_Missense_Mutation_p.Q252K|KBTBD4_ENST00000395288.2_Missense_Mutation_p.Q203K|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.Q219K			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	203	BACK.							p.Q203K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GTTGGGTTCTGAGAACACGGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											119	118	118					11																	47597234		2201	4298	6499	47553810	SO:0001583	missense	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.607C>A	11.37:g.47597234G>T	ENSP00000433340:p.Gln203Lys		47553810	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726392	0.89298	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.52	5.52	0.82312	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	L	0.50333	1.59	0.80722	D	1	P;P;D	0.53885	0.954;0.843;0.963	D;P;D	0.68621	0.932;0.893;0.959	T	0.78919	-0.2014	10	0.62326	D	0.03	-18.4129	19.8022	0.96513	0.0:0.0:1.0:0.0	.	219;203;228	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	K	203;228;203;212;219;252	ENSP00000433340:Q203K;ENSP00000436713:Q228K;ENSP00000378703:Q203K;ENSP00000415106:Q219K;ENSP00000434477:Q252K	ENSP00000352971:Q212K	Q	-	1	0	KBTBD4	47553810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.489000	0.81451	2.764000	0.94973	0.650000	0.86243	CAG		0.438	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		T	47597234	G	T	47597234	3	4	134	1	0	0	0	0	1	0	0	0	7995	1299	45	3	957	3	KBTBD4	11	47597234	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	27478036	47597234	87409282	70	7337											
GLYATL1	92292	genome.wustl.edu	37	11	58711130	58711130	+	5'UTR	SNP	A	A	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr11:58711130A>C	ENST00000317391.4	+	0	289				GLYATL1_ENST00000300079.5_Silent_p.R47R|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.R47R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	agagtggctgaggataatagg	0.483																																																1	Substitution - coding silent(1)	ovary(1)	11											68	62	64					11																	58711130		2201	4295	6496	58467706	SO:0001623	5_prime_UTR_variant	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.-52A>C	11.37:g.58711130A>C			58467706	A6NDT0|Q7Z510|Q8NAW8	Silent	SNP	ENST00000317391.4	37	CCDS55768.1																																																																																				0.483	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		C	58711130	A	C	58711130	1	2	134	0	1	0	0	0	0	0	0	0	6480	295	11	5		5	GLYATL1	11	58711130	5'UTR	SNP	A	TCGA-13-1488-01A-01W-0549-09	11113896	58711130	76295386	71	7338											
FAT3	120114	genome.wustl.edu	37	11	92085577	92085577	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr11:92085577C>T	ENST00000298047.6	+	1	316	c.299C>T	c.(298-300)gCa>gTa	p.A100V	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000409404.2_Missense_Mutation_p.A100V|FAT3_ENST00000541502.1_Missense_Mutation_p.A100V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCATCATTGCAGATTTCTGT	0.368										TCGA Ovarian(4;0.039)																																						0			11											73	72	72					11																	92085577		1842	4100	5942	91725225	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.299C>T	11.37:g.92085577C>T	ENSP00000298047:p.Ala100Val		91725225	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.065963	0.76187	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.75050	-0.89;-0.9;0.39	5.53	5.53	0.82687	.	.	.	.	.	T	0.70996	0.3288	N	0.24115	0.695	0.44149	D	0.996943	D	0.58620	0.983	P	0.51615	0.675	T	0.74945	-0.3491	9	0.87932	D	0	.	14.4227	0.67196	0.0:0.8528:0.1472:0.0	.	100	Q8TDW7-3	.	V	100	ENSP00000298047:A100V;ENSP00000387040:A100V;ENSP00000443786:A100V	ENSP00000298047:A100V	A	+	2	0	FAT3	91725225	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.455000	0.73497	2.756000	0.94617	0.655000	0.94253	GCA		0.368	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92085577	C	T	92085577	3	4	134	1	0	0	0	0	1	0	0	0	5691	710	25	2	301	2	FAT3	11	92085577	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	33374447	92085577	42920939	72	7339											
CD3D	915	genome.wustl.edu	37	11	118211202	118211202	+	Silent	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr11:118211202G>A	ENST00000300692.4	-	2	298	c.162C>T	c.(160-162)gaC>gaT	p.D54D	CD3D_ENST00000529594.1_Intron|CD3D_ENST00000392884.2_Silent_p.D54D	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	54					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.D54D(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	GTCTTGTAATGTCTGAGAGCA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	11											225	166	186					11																	118211202		2200	4296	6496	117716412	SO:0001819	synonymous_variant	915			X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"CD molecules"	1673	protein-coding gene	gene with protein product		186790	"CD3d antigen, delta polypeptide (TiT3 complex)"	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.162C>T	11.37:g.118211202G>A			117716412	A8MVP6	Silent	SNP	ENST00000300692.4	37	CCDS8394.1	.	.	.	.	.	.	.	.	.	.	G	2.966	-0.213478	0.06140	.	.	ENSG00000167286	ENST00000534687	.	.	.	5.36	-7.87	0.01183	.	.	.	.	.	T	0.15003	0.0362	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.16482	-1.0401	4	.	.	.	1.3961	1.2215	0.01925	0.1894:0.1625:0.2532:0.3949	.	.	.	.	Y	59	.	.	H	-	1	0	CD3D	117716412	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.320000	0.00513	-2.473000	0.00528	-2.697000	0.00138	CAT		0.458	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		A	118211202	G	A	118211202	2	1	134	1	0	0	0	0	0	0	0	1	3010	1368	48	2		2	CD3D	11	118211202	Silent	SNP	G	TCGA-13-1488-01A-01W-0549-09	26125625	118211202	16795314	73	7340											
NFRKB	4798	genome.wustl.edu	37	11	129739556	129739556	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr11:129739556C>G	ENST00000446488.3	-	23	3467	c.3364G>C	c.(3364-3366)Gga>Cga	p.G1122R	NFRKB_ENST00000304521.5_Missense_Mutation_p.G1122R|NFRKB_ENST00000524794.1_Missense_Mutation_p.G1147R|NFRKB_ENST00000524746.1_Missense_Mutation_p.G1122R	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1122					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)	p.G1147R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TGGACAGTTCCAGACCCACTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	11											100	94	96					11																	129739556		2201	4297	6498	129244766	SO:0001583	missense	4798				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3364G>C	11.37:g.129739556C>G	ENSP00000400476:p.Gly1122Arg		129244766	Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717337	0.68844	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.27	5.27	0.74061	.	0.133504	0.49305	D	0.000144	T	0.62672	0.2447	L	0.27053	0.805	0.43160	D	0.994944	D;D;D	0.76494	0.999;0.992;0.992	D;D;D	0.71414	0.973;0.936;0.936	T	0.66085	-0.6011	9	0.66056	D	0.02	-12.1045	12.3205	0.54981	0.0:0.9223:0.0:0.0777	.	1122;1121;1147	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	R	1122;1122;1147;1122	.	ENSP00000303800:G1122R	G	-	1	0	NFRKB	129244766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.441000	0.59981	2.470000	0.83445	0.650000	0.86243	GGA		0.597	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		G	129739556	C	G	129739556	3	3	134	1	0	0	0	0	1	0	0	0	10384	603	21	3	551	3	NFRKB	11	129739556	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	11528354	129739556	5266960	74	7341											
SLC6A12	6539	genome.wustl.edu	37	12	313861	313861	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr12:313861G>T	ENST00000428720.1	-	4	961	c.218C>A	c.(217-219)gCc>gAc	p.A73D	SLC6A12_ENST00000424061.2_Missense_Mutation_p.A73D|SLC6A12_ENST00000359674.4_Missense_Mutation_p.A73D|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A73D|SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000397296.2_Missense_Mutation_p.A73D|RP11-283I3.2_ENST00000539568.1_RNA	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	73					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A73D(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GATGAAGAAGGCTCCTGCAGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	12											55	50	52					12																	313861		2203	4300	6503	184122	SO:0001583	missense	6539			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.218C>A	12.37:g.313861G>T	ENSP00000388184:p.Ala73Asp		184122	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	CCDS8501.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.137906|4.137906	0.77775|0.77775	.|.	.|.	ENSG00000111181|ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793|ENST00000535347	T;T;T;T;T;T|T	0.80566|0.46063	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39|0.88	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	0.075087|.	0.53938|.	D|.	0.000042|.	T|T	0.81069|0.81069	0.4746|0.4746	H|H	0.99682|0.99682	4.7|4.7	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.70227|.	0.968|.	D|D	0.90485|0.90485	0.4463|0.4463	10|7	0.87932|0.87932	D|D	0|0	.|.	17.3747|17.3747	0.87389|0.87389	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	73|.	P48065|.	S6A12_HUMAN|.	D|T	73|34	ENSP00000352702:A73D;ENSP00000380464:A73D;ENSP00000388184:A73D;ENSP00000399136:A73D;ENSP00000444268:A73D;ENSP00000439351:A73D|ENSP00000446082:P34T	ENSP00000352702:A73D|ENSP00000446082:P34T	A|P	-|-	2|1	0|0	SLC6A12|SLC6A12	184122|184122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	3.898000|3.898000	0.56281|0.56281	2.281000|2.281000	0.76405|0.76405	0.491000|0.491000	0.48974|0.48974	GCC|CCT		0.592	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		T	313861	G	T	313861	3	4	134	1	0	0	0	0	1	0	0	0	14678	1203	42	3	1678	3	SLC6A12	12	313861	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09		313861	133538034	75	7342											
KLRC3	3823	genome.wustl.edu	37	12	10570982	10570982	+	Silent	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr12:10570982G>A	ENST00000396439.2	-	4	491	c.447C>T	c.(445-447)aaC>aaT	p.N149N	NKG2-E_ENST00000539033.1_Silent_p.N149N|KLRC3_ENST00000381903.2_Silent_p.N149N|KLRC3_ENST00000381904.2_Silent_p.N149N	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	149	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.N149N(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GACTAGAAGAGTTCTTTGAAG	0.338																																																1	Substitution - coding silent(1)	ovary(1)	12											149	156	154					12																	10570982		2203	4300	6503	10462249	SO:0001819	synonymous_variant	3823			L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.447C>T	12.37:g.10570982G>A			10462249	Q8WXA4|Q96RL0|Q9UP04	Silent	SNP	ENST00000396439.2	37	CCDS41755.1																																																																																				0.338	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		A	10570982	G	A	10570982	2	1	134	1	0	0	0	0	0	0	0	1	8417	1020	36	2		2	KLRC3	12	10570982	Silent	SNP	G	TCGA-13-1488-01A-01W-0549-09	10257121	10570982	123280913	76	7343											
HIST4H4	121504	genome.wustl.edu	37	12	14923900	14923900	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr12:14923900C>T	ENST00000539745.1	-	1	165	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	40					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R40Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						GCCCCCACGTCGGGCGAGACG	0.617											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											54	54	54					12																	14923900		2203	4300	6503	14815167	SO:0001583	missense	121504			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"Histones / Replication-dependent"	20510	protein-coding gene	gene with protein product		615069	"histone 4, H4"			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.119G>A	12.37:g.14923900C>T	ENSP00000443017:p.Arg40Gln	698	14815167	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000539745.1	37	CCDS8665.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037596	0.54896	.	.	ENSG00000197837	ENST00000539745	T	0.76968	-1.06	4.18	2.33	0.28932	.	0.000000	0.53938	U	0.000054	T	0.79816	0.4511	.	.	.	0.50813	D	0.999899	.	.	.	.	.	.	T	0.77869	-0.2427	7	0.87932	D	0	.	6.8119	0.23809	0.1752:0.7296:0.0:0.0952	.	.	.	.	Q	40	ENSP00000443017:R40Q	ENSP00000350767:R40Q	R	-	2	0	HIST4H4	14815167	0.990000	0.36364	0.002000	0.10522	0.012000	0.07955	2.199000	0.42715	0.521000	0.28445	0.650000	0.86243	CGA		0.617	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		T	14923900	C	T	14923900	3	4	134	1	0	0	0	0	1	0	0	0	7185	884	31	1	196	1	HIST4H4	12	14923900	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	4352918	14923900	118927995	77	7344											
PDZRN4	29951	genome.wustl.edu	37	12	41966489	41966489	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr12:41966489G>T	ENST00000402685.2	+	10	1916	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.K378N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.K376N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	636							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K378N(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCAAATGCAAGATTCGAAATC	0.458																																																1	Substitution - Missense(1)	ovary(1)	12											101	97	98					12																	41966489		2203	4300	6503	40252756	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1908G>T	12.37:g.41966489G>T	ENSP00000384197:p.Lys636Asn		40252756	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849911	0.32699	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72282	-0.64;3.83;3.83	4.49	2.64	0.31445	.	0.165042	0.41500	D	0.000869	T	0.63153	0.2487	L	0.34521	1.04	0.37658	D	0.922679	P;B;B	0.50156	0.932;0.391;0.024	P;B;B	0.47864	0.559;0.236;0.037	T	0.64170	-0.6470	10	0.38643	T	0.18	-39.4202	10.7634	0.46279	0.1587:0.0:0.8413:0.0	.	636;376;378	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	636;378;376	ENSP00000384197:K636N;ENSP00000439990:K378N;ENSP00000298919:K376N	ENSP00000298919:K376N	K	+	3	2	PDZRN4	40252756	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	2.047000	0.41269	0.601000	0.29879	0.650000	0.86243	AAG		0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		T	41966489	G	T	41966489	3	4	134	1	0	0	0	0	1	0	0	0	11710	933	33	3	2019	3	PDZRN4	12	41966489	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	27042589	41966489	91885406	78	7345											
MRPL42	28977	genome.wustl.edu	37	12	93881315	93881315	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr12:93881315C>G	ENST00000549982.1	+	5	423	c.262C>G	c.(262-264)Cat>Gat	p.H88D	MRPL42_ENST00000547098.1_Missense_Mutation_p.H88D|MRPL42_ENST00000548545.1_Missense_Mutation_p.H88D|MRPL42_ENST00000361630.2_Missense_Mutation_p.H88D|MRPL42_ENST00000552217.1_Missense_Mutation_p.H88D|MRPL42_ENST00000393128.4_Missense_Mutation_p.H88D	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	88					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.H88D(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						TGAAGAAACACATGATCAAGT	0.378																																																1	Substitution - Missense(1)	ovary(1)	12											128	116	120					12																	93881315		2203	4300	6503	92405446	SO:0001583	missense	28977			AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"Mitochondrial ribosomal proteins / large subunits", "Mitochondrial ribosomal proteins / small subunits"	14493	protein-coding gene	gene with protein product	"mitochondrial ribosomal protein S32"	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.262C>G	12.37:g.93881315C>G	ENSP00000449884:p.His88Asp		92405446	Q6FID1|Q96Q48|Q9P0S1	Missense_Mutation	SNP	ENST00000549982.1	37	CCDS9045.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009622	0.54361	.	.	ENSG00000198015	ENST00000549982;ENST00000361630;ENST00000552217;ENST00000393128	.	.	.	4.69	3.78	0.43462	.	0.065965	0.64402	D	0.000017	T	0.67767	0.2928	M	0.70275	2.135	0.40641	D	0.981946	P;D	0.56287	0.954;0.975	P;P	0.56088	0.623;0.791	T	0.70669	-0.4808	9	0.42905	T	0.14	-26.8427	13.5123	0.61519	0.0:0.9175:0.0:0.0825	.	88;88	Q9Y6G3;A6NCI0	RM42_HUMAN;.	D	88	.	ENSP00000355202:H88D	H	+	1	0	MRPL42	92405446	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.981000	0.63819	2.298000	0.77334	0.591000	0.81541	CAT		0.378	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407715.1	NM_014050		G	93881315	C	G	93881315	3	3	134	1	0	0	0	0	1	0	0	0	9806	478	17	3	300	3	MRPL42	12	93881315	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	51914826	93881315	39970580	79	7346											
SSH1	54434	genome.wustl.edu	37	12	109246450	109246450	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr12:109246450T>C	ENST00000326495.5	-	2	167	c.74A>G	c.(73-75)gAg>gGg	p.E25G	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Missense_Mutation_p.E25G	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	25					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E25G(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGCCAGCCTCCAACTACAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											125	120	122					12																	109246450		2203	4300	6503	107770579	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.74A>G	12.37:g.109246450T>C	ENSP00000315713:p.Glu25Gly		107770579	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.033766	0.35893	.	.	ENSG00000084112	ENST00000326495;ENST00000551165	T;T	0.15139	2.45;2.47	5.02	5.02	0.67125	.	0.925148	0.09102	N	0.848339	T	0.12092	0.0294	N	0.14661	0.345	0.80722	D	1	B;B	0.17038	0.005;0.02	B;B	0.09377	0.003;0.004	T	0.09164	-1.0687	10	0.38643	T	0.18	-10.987	11.1851	0.48650	0.0:0.0:0.0:1.0	.	25;25	Q8WYL5-2;Q8WYL5	.;SSH1_HUMAN	G	25	ENSP00000315713:E25G;ENSP00000448824:E25G	ENSP00000315713:E25G	E	-	2	0	SSH1	107770579	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	3.037000	0.49775	1.911000	0.55334	0.445000	0.29226	GAG		0.463	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		C	109246450	T	C	109246450	3	2	134	1	0	0	0	0	1	0	0	0	15186	1551	54	4	3464	4	SSH1	12	109246450	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	15365135	109246450	24605445	80	7347											
TMEM116	89894	genome.wustl.edu	37	12	112371728	112371728	+	Missense_Mutation	SNP	C	C	G	rs566186086	byFrequency	TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr12:112371728C>G	ENST00000550831.3	-	8	787	c.419G>C	c.(418-420)cGc>cCc	p.R140P	TMEM116_ENST00000437003.2_Missense_Mutation_p.R140P|TMEM116_ENST00000355445.3_Missense_Mutation_p.R197P|TMEM116_ENST00000354825.3_Missense_Mutation_p.R140P|TMEM116_ENST00000552374.2_Missense_Mutation_p.R232P|TMEM116_ENST00000549537.2_Missense_Mutation_p.R46P	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	140						integral component of membrane (GO:0016021)		p.R140P(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						TGGGTAGAAGCGCACCCGTTG	0.498																																																1	Substitution - Missense(1)	ovary(1)	12											122	114	117					12																	112371728		2203	4300	6503	110856111	SO:0001583	missense	89894			AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.419G>C	12.37:g.112371728C>G	ENSP00000450377:p.Arg140Pro		110856111	G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	3.743	-0.053160	0.07362	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000549537;ENST00000552374	T;T;T;T;T	0.47869	0.85;0.84;0.84;0.84;0.83	4.7	2.79	0.32731	.	0.888263	0.09726	N	0.763822	T	0.44159	0.1280	L	0.47716	1.5	0.09310	N	1	D;D;D;D	0.58268	0.982;0.977;0.96;0.977	P;P;P;P	0.49528	0.578;0.614;0.593;0.614	T	0.24190	-1.0167	10	0.34782	T	0.22	0.0661	3.2808	0.06915	0.3152:0.4681:0.0:0.2167	.	46;197;232;140	G3V1Z3;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	P	197;140;140;140;46;232	ENSP00000347620:R197P;ENSP00000346883:R140P;ENSP00000450377:R140P;ENSP00000395861:R140P;ENSP00000447731:R232P	ENSP00000346883:R140P	R	-	2	0	TMEM116	110856111	0.106000	0.21978	0.171000	0.22900	0.060000	0.15804	1.556000	0.36288	0.540000	0.28808	0.467000	0.42956	CGC		0.498	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		G	112371728	C	G	112371728	3	3	134	1	0	0	0	0	1	0	0	0	16030	768	27	3	330	3	TMEM116	12	112371728	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	3125278	112371728	21480167	81	7348											
PARP4	143	genome.wustl.edu	37	13	25051839	25051839	+	Splice_Site	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr13:25051839C>G	ENST00000381989.3	-	14	1894	c.1789G>C	c.(1789-1791)Gat>Cat	p.D597H		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	597					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D597H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATTGTCCTACCTTCAACCTTT	0.299																																																1	Substitution - Missense(1)	ovary(1)	13											48	53	51					13																	25051839		2199	4290	6489	23949839	SO:0001630	splice_region_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1789+1G>C	13.37:g.25051839C>G			23949839	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799603	0.50208	.	.	ENSG00000102699	ENST00000381989	T	0.02032	4.49	3.98	3.98	0.46160	.	0.400514	0.24065	U	0.041874	T	0.06234	0.0161	L	0.32530	0.975	0.30627	N	0.75793	D	0.89917	1.0	D	0.85130	0.997	T	0.11299	-1.0593	9	.	.	.	-18.7299	11.4848	0.50348	0.0:1.0:0.0:0.0	.	597	Q9UKK3	PARP4_HUMAN	H	597	ENSP00000371419:D597H	.	D	-	1	0	PARP4	23949839	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	1.263000	0.33004	2.059000	0.61396	0.644000	0.83932	GAT		0.299	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	Missense_Mutation	G	25051839	C	G	25051839	5	3	134	1	0	0	0	0	0	0	1	0	11463	695	24	3	3469	3	PARP4	13	25051839	Splice_Site	SNP	C	TCGA-13-1488-01A-01W-0549-09		25051839	90118039	82	7349											
RNASE2	6036	genome.wustl.edu	37	14	21424039	21424039	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr14:21424039T>C	ENST00000304625.2	+	2	199	c.109T>C	c.(109-111)Tgg>Cgg	p.W37R		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	37				W -> R (in Ref. 10; AA sequence). {ECO:0000305}.	chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.W37R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CTGGGCTCAATGGTTTGAAAC	0.448																																																1	Substitution - Missense(1)	ovary(1)	14											86	81	83					14																	21424039		2203	4300	6503	20493879	SO:0001583	missense	6036			X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"Ribonucleases, RNase A"	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.109T>C	14.37:g.21424039T>C	ENSP00000303276:p.Trp37Arg		20493879	Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	t	14.60	2.584516	0.46110	.	.	ENSG00000169385	ENST00000304625	T	0.72394	-0.65	2.78	2.78	0.32641	Ribonuclease A, domain (4);	1.760720	0.03567	U	0.227943	T	0.80999	0.4732	L	0.55990	1.75	0.32371	N	0.555904	D	0.89917	1.0	D	0.91635	0.999	T	0.68413	-0.5415	10	0.52906	T	0.07	.	7.369	0.26790	0.0:0.0:0.0:1.0	.	37	P10153	RNAS2_HUMAN	R	37	ENSP00000303276:W37R	ENSP00000303276:W37R	W	+	1	0	RNASE2	20493879	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	2.774000	0.47694	1.519000	0.48950	0.374000	0.22700	TGG		0.448	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			C	21424039	T	C	21424039	3	2	134	1	0	0	0	0	1	0	0	0	13407	1464	51	4	111	4	RNASE2	14	21424039	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09		21424039	85925501	83	7350											
MYH6	4624	genome.wustl.edu	37	14	23856750	23856750	+	Silent	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr14:23856750C>G	ENST00000356287.3	-	31	4667	c.4638G>C	c.(4636-4638)ctG>ctC	p.L1546L	MYH6_ENST00000405093.3_Silent_p.L1546L|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1546					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.L1546L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGCCTCCTCCAGGGCTGACT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	14											88	68	75					14																	23856750		2203	4300	6503	22926590	SO:0001819	synonymous_variant	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4638G>C	14.37:g.23856750C>G			22926590	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																				0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			G	23856750	C	G	23856750	2	3	134	1	0	0	0	0	0	0	0	1	10038	581	21	3		3	MYH6	14	23856750	Silent	SNP	C	TCGA-13-1488-01A-01W-0549-09	2432711	23856750	83492790	84	7351											
GPHN	10243	genome.wustl.edu	37	14	67525489	67525489	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr14:67525489T>A	ENST00000315266.5	+	10	2152	c.1031T>A	c.(1030-1032)aTc>aAc	p.I344N	GPHN_ENST00000459628.1_Missense_Mutation_p.I359N|GPHN_ENST00000543237.1_Missense_Mutation_p.I390N|GPHN_ENST00000478722.1_Missense_Mutation_p.I377N|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.I313N	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	344	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.I377N(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGGACAGAAATCATCAATTAC	0.393			T	MLL	AL																																		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	1	Substitution - Missense(1)	ovary(1)	14											168	161	163					14																	67525489		2203	4300	6503	66595242	SO:0001583	missense	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1031T>A	14.37:g.67525489T>A	ENSP00000312771:p.Ile344Asn		66595242	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542686	0.85917	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960	.	.	.	5.59	5.59	0.84812	MoeA, N-terminal and linker domain (2);	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	L	0.28400	0.85	0.80722	D	1	B;P;B;B;D	0.65815	0.244;0.522;0.288;0.452;0.995	B;B;B;B;P	0.62560	0.135;0.254;0.213;0.135;0.904	T	0.56697	-0.7936	9	0.19147	T	0.46	-7.5868	15.7679	0.78141	0.0:0.0:0.0:1.0	.	313;390;344;377;359	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	N	344;377;359;390;313	.	ENSP00000303019:I313N	I	+	2	0	GPHN	66595242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.671000	0.83941	2.128000	0.65567	0.460000	0.39030	ATC		0.393	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		A	67525489	T	A	67525489	3	1	134	1	0	0	0	0	1	0	0	0	6610	1435	50	5	1172	5	GPHN	14	67525489	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	43668739	67525489	39824051	85	7352											
PNMA1	9240	genome.wustl.edu	37	14	74179713	74179713	+	Silent	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr14:74179713G>A	ENST00000316836.3	-	1	1415	c.630C>T	c.(628-630)gcC>gcT	p.A210A		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	210					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)		p.A210A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		taacatcagcggcggggcctc	0.552																																																1	Substitution - coding silent(1)	ovary(1)	14											54	61	59					14																	74179713		2203	4300	6503	73249466	SO:0001819	synonymous_variant	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.630C>T	14.37:g.74179713G>A			73249466	A8K4L5|O95144|Q8NG07	Silent	SNP	ENST00000316836.3	37	CCDS9818.1																																																																																				0.552	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		A	74179713	G	A	74179713	2	1	134	1	0	0	0	0	0	0	0	1	12153	1103	39	1		1	PNMA1	14	74179713	Silent	SNP	G	TCGA-13-1488-01A-01W-0549-09	6654224	74179713	33169827	86	7353											
BATF	10538	genome.wustl.edu	37	14	75991531	75991531	+	Splice_Site	SNP	G	G	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr14:75991531G>C	ENST00000286639.6	+	2	426	c.168G>C	c.(166-168)ctG>ctC	p.L56L	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	56	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L56L(1)		large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CCCTGCACCTGGTAAGTGTTC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	14											81	64	70					14																	75991531		2203	4300	6503	75061284	SO:0001630	splice_region_variant	10538			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.168+1G>C	14.37:g.75991531G>C			75061284		Silent	SNP	ENST00000286639.6	37	CCDS9843.1																																																																																				0.522	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399	Silent	C	75991531	G	C	75991531	5	2	134	1	0	0	0	0	0	0	1	0	1325	1362	47	3	174	3	BATF	14	75991531	Splice_Site	SNP	G	TCGA-13-1488-01A-01W-0549-09	1811818	75991531	31358009	87	7354											
RPS6KA5	9252	genome.wustl.edu	37	14	91386568	91386568	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr14:91386568G>C	ENST00000261991.3	-	7	961	c.788C>G	c.(787-789)tCc>tGc	p.S263C	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.S263C|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S184C	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	263	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S263C(1)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTCAGCTTGGGAATTTTTTTC	0.358																																																1	Substitution - Missense(1)	ovary(1)	14											87	93	91					14																	91386568		2203	4298	6501	90456321	SO:0001583	missense	9252			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.788C>G	14.37:g.91386568G>C	ENSP00000261991:p.Ser263Cys		90456321	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883684	0.72410	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.27720	1.65;1.65;1.65	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117980	0.64402	D	0.000012	T	0.57007	0.2024	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.73708	0.852;0.981	T	0.60316	-0.7287	10	0.72032	D	0.01	.	18.9634	0.92685	0.0:0.0:1.0:0.0	.	263;263	O75582-2;O75582	.;KS6A5_HUMAN	C	263;184;263	ENSP00000261991:S263C;ENSP00000442803:S184C;ENSP00000402787:S263C	ENSP00000261991:S263C	S	-	2	0	RPS6KA5	90456321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.978000	0.93450	2.469000	0.83416	0.650000	0.86243	TCC		0.358	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		C	91386568	G	C	91386568	3	2	134	1	0	0	0	0	1	0	0	0	13657	1174	41	3	1670	3	RPS6KA5	14	91386568	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	15395037	91386568	15962972	88	7355											
SEPT1	1731	genome.wustl.edu	37	16	30390845	30390845	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr16:30390845G>C	ENST00000571393.1	-	9	857	c.671C>G	c.(670-672)cCt>cGt	p.P224R	SEPT1_ENST00000605106.1_Missense_Mutation_p.P229R|SEPT1_ENST00000321367.3_Missense_Mutation_p.P271R			Q8WYJ6	SEPT1_HUMAN	septin 1	224	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.P224R(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GACTGCAAAAGGGATGCTTTC	0.632																																																1	Substitution - Missense(1)	ovary(1)	16											66	57	60					16																	30390845		2197	4300	6497	30298346	SO:0001583	missense	1731			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.671C>G	16.37:g.30390845G>C	ENSP00000460441:p.Pro224Arg		30298346	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37		.	.	.	.	.	.	.	.	.	.	G	28.9	4.960452	0.92791	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000010	D	0.90051	0.6893	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92868	0.6312	9	0.87932	D	0	.	18.6739	0.91521	0.0:0.0:1.0:0.0	.	224	Q8WYJ6	SEPT1_HUMAN	R	224	.	ENSP00000324511:P224R	P	-	2	0	SEPT1	30298346	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	9.840000	0.99478	2.722000	0.93159	0.655000	0.94253	CCT		0.632	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		C	30390845	G	C	30390845	3	2	134	1	0	0	0	0	1	0	0	0	14062	1000	35	3	448	3	SEPT1	16	30390845	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09		30390845	59963908	89	7356											
CES3	23491	genome.wustl.edu	37	16	66998354	66998354	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr16:66998354G>T	ENST00000303334.4	+	5	726	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Missense_Mutation_p.D219Y	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	219						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.D219Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTTCGGGGGTGACCTCAACTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											97	100	99					16																	66998354		2200	4300	6500	65555855	SO:0001583	missense	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.655G>T	16.37:g.66998354G>T	ENSP00000304782:p.Asp219Tyr		65555855	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107061	0.77096	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.79749	-1.3;-1.3	4.13	-0.621	0.11564	Carboxylesterase, type B (1);	0.529435	0.15921	N	0.238114	D	0.92126	0.7504	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89720	0.3918	10	0.87932	D	0	.	8.5325	0.33344	0.3637:0.0:0.6363:0.0	.	219	Q6UWW8	EST3_HUMAN	Y	219	ENSP00000304782:D219Y;ENSP00000377602:D219Y	ENSP00000304782:D219Y	D	+	1	0	CES3	65555855	0.932000	0.31603	0.001000	0.08648	0.814000	0.46013	1.111000	0.31159	-0.173000	0.10761	0.655000	0.94253	GAC		0.587	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		T	66998354	G	T	66998354	3	4	134	1	0	0	0	0	1	0	0	0	3271	1290	45	3	673	3	CES3	16	66998354	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	36607509	66998354	23356399	90	7357											
NFAT5	10725	genome.wustl.edu	37	16	69602440	69602440	+	Intron	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr16:69602440G>A	ENST00000354436.2	+	1	391				NFAT5_ENST00000567239.1_Missense_Mutation_p.G39E|MIR1538_ENST00000411177.1_RNA|NFAT5_ENST00000566899.1_Intron|NFAT5_ENST00000393742.2_Intron|NFAT5_ENST00000432919.1_Missense_Mutation_p.G39E|NFAT5_ENST00000349945.1_5'UTR	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive						cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G39E(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CATAGAGCTGGACTATTGGAA	0.343																																																1	Substitution - Missense(1)	ovary(1)	16											86	80	82					16																	69602440		1835	4090	5925	68159941	SO:0001627	intron_variant	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.73+2163G>A	16.37:g.69602440G>A			68159941	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984902	0.53934	.	.	ENSG00000102908	ENST00000432919;ENST00000426654	T;T	0.25579	1.79;1.79	5.76	5.76	0.90799	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.80722	D	1	B;B	0.27823	0.19;0.19	B;B	0.28139	0.086;0.086	T	0.13737	-1.0498	9	0.09590	T	0.72	.	15.4766	0.75485	0.0:0.0:1.0:0.0	.	39;39	A2RRB4;E9PHR7	.;.	E	39	ENSP00000396538:G39E;ENSP00000413126:G39E	ENSP00000413126:G39E	G	+	2	0	NFAT5	68159941	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.489000	0.60309	2.733000	0.93635	0.467000	0.42956	GGA		0.343	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		A	69602440	G	A	69602440	1	1	134	0	1	0	0	0	0	0	0	0	10360	1174	41	2		2	NFAT5	16	69602440	Intron	SNP	G	TCGA-13-1488-01A-01W-0549-09	2604086	69602440	20752313	91	7358											
TP53	7157	genome.wustl.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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"	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	17	GRCh37	CM971506	TP53	M	rs121913344						120	106	110					17																	7577022		2203	4300	6503	7517747	SO:0001587	stop_gained	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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		7517747	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577022	G	A	7577022	4	1	134	1	0	0	0	0	0	1	0	0	16381	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09		7577022	73618188	92	7359											
SUPT6H	6830	genome.wustl.edu	37	17	27000471	27000471	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr17:27000471G>A	ENST00000314616.6	+	2	335	c.52G>A	c.(52-54)Gat>Aat	p.D18N	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_Missense_Mutation_p.D18N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	18	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D18N(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGAATACAATGATGAAGGCGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	17											89	84	86					17																	27000471		2203	4300	6503	24024598	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.52G>A	17.37:g.27000471G>A	ENSP00000319104:p.Asp18Asn		24024598	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076597	0.36662	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.75	4.76	0.60689	.	0.149195	0.64402	D	0.000018	T	0.27594	0.0678	N	0.08118	0	0.32563	N	0.530893	B	0.17667	0.023	B	0.14023	0.01	T	0.27020	-1.0086	9	0.40728	T	0.16	-14.4731	11.0059	0.47633	0.0:0.2844:0.5911:0.1245	.	18	Q7KZ85	SPT6H_HUMAN	N	18	.	ENSP00000319104:D18N	D	+	1	0	SUPT6H	24024598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.609000	0.61148	1.390000	0.46547	0.655000	0.94253	GAT		0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		A	27000471	G	A	27000471	3	1	134	1	0	0	0	0	1	0	0	0	15400	1290	45	2	54	2	SUPT6H	17	27000471	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	19423449	27000471	54194739	93	7360											
PNMT	5409	genome.wustl.edu	37	17	37826360	37826360	+	Silent	SNP	A	A	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr17:37826360A>T	ENST00000269582.2	+	3	885	c.567A>T	c.(565-567)ccA>ccT	p.P189P	PNMT_ENST00000394246.1_Silent_p.P91P	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	189					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)	p.P189P(1)		NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGTGAGCCCAGATCTTGCCA	0.682																																																1	Substitution - coding silent(1)	ovary(1)	17											37	37	37					17																	37826360		2203	4300	6503	35079886	SO:0001819	synonymous_variant	5409				CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.567A>T	17.37:g.37826360A>T			35079886		Silent	SNP	ENST00000269582.2	37	CCDS11343.1																																																																																				0.682	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		T	37826360	A	T	37826360	2	4	134	1	0	0	0	0	0	0	0	1	12159	175	7	5		5	PNMT	17	37826360	Silent	SNP	A	TCGA-13-1488-01A-01W-0549-09	10825889	37826360	43368850	94	7361											
RAB37	326624	genome.wustl.edu	37	17	72741493	72741493	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr17:72741493G>T	ENST00000392613.5	+	9	671	c.615G>T	c.(613-615)caG>caT	p.Q205H	RAB37_ENST00000528438.1_Missense_Mutation_p.Q178H|RAB37_ENST00000392615.5_Missense_Mutation_p.Q173H|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000402449.4_Missense_Mutation_p.Q198H|RAB37_ENST00000392612.3_Missense_Mutation_p.Q168H|RAB37_ENST00000392614.4_Missense_Mutation_p.Q210H	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	205					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)	p.Q198H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CCAGCTTCCAGATCCGAGACT	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											51	54	53					17																	72741493		2203	4300	6503	70253088	SO:0001583	missense	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.615G>T	17.37:g.72741493G>T	ENSP00000376389:p.Gln205His		70253088	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993496	0.54041	.	.	ENSG00000172794	ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612	T;T;T;T;T;T	0.64085	-0.04;-0.07;0.28;-0.08;-0.05;0.28	5.25	5.25	0.73442	.	0.127775	0.53938	D	0.000048	T	0.50429	0.1615	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.16166	0.016;0.006;0.01;0.016;0.006	B;B;B;B;B	0.17433	0.014;0.008;0.008;0.018;0.008	T	0.49606	-0.8922	10	0.59425	D	0.04	.	12.167	0.54135	0.0835:0.0:0.9165:0.0	.	168;173;210;198;205	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2	.;.;.;.;RAB37_HUMAN	H	198;198;178;173;210;205;168	ENSP00000383934:Q198H;ENSP00000432086:Q178H;ENSP00000376391:Q173H;ENSP00000376390:Q210H;ENSP00000376389:Q205H;ENSP00000376388:Q168H	ENSP00000376388:Q168H	Q	+	3	2	RAB37	70253088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.000000	0.70678	2.606000	0.88127	0.655000	0.94253	CAG		0.607	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		T	72741493	G	T	72741493	3	4	134	1	0	0	0	0	1	0	0	0	12930	933	33	3	952	3	RAB37	17	72741493	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	34915133	72741493	8453717	95	7362											
KATNAL2	83473	genome.wustl.edu	37	18	44589402	44589402	+	Silent	SNP	A	A	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr18:44589402A>G	ENST00000245121.5	+	6	587	c.393A>G	c.(391-393)gaA>gaG	p.E131E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.E203E	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.E131E(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CAACCAGTGAACTTGCCTTGA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	18											143	126	132					18																	44589402		2203	4300	6503	42843400	SO:0001819	synonymous_variant	83473			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"ATPases / AAA-type"	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.393A>G	18.37:g.44589402A>G			42843400		Silent	SNP	ENST00000245121.5	37	CCDS32828.1																																																																																				0.458	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		G	44589402	A	G	44589402	2	3	134	1	0	0	0	0	0	0	0	1	7986	40	2	4		4	KATNAL2	18	44589402	Silent	SNP	A	TCGA-13-1488-01A-01W-0549-09		44589402	33487846	96	7363											
C3	718	genome.wustl.edu	37	19	6684793	6684793	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr19:6684793G>T	ENST00000245907.6	-	31	4114	c.4022C>A	c.(4021-4023)aCc>aAc	p.T1341N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1341					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.T1341N(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TACCGACAAGGTGCCTTGGCC	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											215	179	191					19																	6684793		2203	4300	6503	6635793	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4022C>A	19.37:g.6684793G>T	ENSP00000245907:p.Thr1341Asn		6635793	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750556	0.69533	.	.	ENSG00000125730	ENST00000245907	T	0.35048	1.33	5.31	5.31	0.75309	.	0.497977	0.22730	N	0.056332	T	0.61850	0.2380	M	0.89904	3.07	0.38270	D	0.942115	D	0.76494	0.999	D	0.78314	0.991	T	0.66089	-0.6010	10	0.31617	T	0.26	.	8.537	0.33368	0.1667:0.0:0.8333:0.0	.	1341	P01024	CO3_HUMAN	N	1341	ENSP00000245907:T1341N	ENSP00000245907:T1341N	T	-	2	0	C3	6635793	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.158000	0.58150	2.645000	0.89757	0.585000	0.79938	ACC		0.542	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6684793	G	T	6684793	3	4	134	1	0	0	0	0	1	0	0	0	2204	1261	44	3	1013	3	C3	19	6684793	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09		6684793	52444190	97	7364											
AP1M2	10053	genome.wustl.edu	37	19	10689606	10689606	+	Missense_Mutation	SNP	C	C	G	rs369863783		TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr19:10689606C>G	ENST00000250244.6	-	8	932	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	AP1M2_ENST00000590923.1_Missense_Mutation_p.E286Q	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	284	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.E284Q(1)		endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GAGAACTTCTCAATGACAGAC	0.488																																																1	Substitution - Missense(1)	ovary(1)	19											50	52	51					19																	10689606		1919	4142	6061	10550606	SO:0001583	missense	10053			AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.850G>C	19.37:g.10689606C>G	ENSP00000250244:p.Glu284Gln		10550606	B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	c	18.64	3.667188	0.67814	.	.	ENSG00000129354	ENST00000250244	T	0.19938	2.11	5.12	5.12	0.69794	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.82517	2.595	0.80722	D	1	B;D	0.89917	0.313;1.0	B;D	0.75484	0.124;0.986	T	0.52793	-0.8528	10	0.48119	T	0.1	-38.6452	16.1027	0.81194	0.0:1.0:0.0:0.0	.	286;284	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	Q	284	ENSP00000250244:E284Q	ENSP00000250244:E284Q	E	-	1	0	AP1M2	10550606	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.529000	0.81952	2.401000	0.81631	0.555000	0.69702	GAG		0.488	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			G	10689606	C	G	10689606	3	3	134	1	0	0	0	0	1	0	0	0	735	835	29	3	441	3	AP1M2	19	10689606	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	4004813	10689606	48439377	98	7365											
EMR3	84658	genome.wustl.edu	37	19	14772798	14772798	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr19:14772798T>G	ENST00000253673.5	-	4	432	c.332A>C	c.(331-333)aAt>aCt	p.N111T	EMR3_ENST00000344373.4_Intron|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	111	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N111T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTCATTGGAATTACTGAATTG	0.373																																																1	Substitution - Missense(1)	ovary(1)	19											192	152	165					19																	14772798		2203	4300	6503	14633798	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.332A>C	19.37:g.14772798T>G	ENSP00000253673:p.Asn111Thr		14633798		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651347	0.29336	.	.	ENSG00000131355	ENST00000253673	D	0.92752	-3.1	4.12	3.08	0.35506	EGF-like calcium-binding (2);	.	.	.	.	D	0.89842	0.6832	L	0.55481	1.735	0.09310	N	0.999999	B	0.32968	0.392	B	0.41135	0.348	T	0.78705	-0.2100	9	0.23302	T	0.38	.	7.3786	0.26843	0.0:0.0:0.2235:0.7765	.	111	Q9BY15	EMR3_HUMAN	T	111	ENSP00000253673:N111T	ENSP00000253673:N111T	N	-	2	0	EMR3	14633798	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.249000	0.08842	0.609000	0.30018	0.416000	0.27883	AAT		0.373	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		G	14772798	T	G	14772798	3	3	134	1	0	0	0	0	1	0	0	0	5106	1493	52	5	1678	5	EMR3	19	14772798	Missense_Mutation	SNP	T	TCGA-13-1488-01A-01W-0549-09	4083192	14772798	44356185	99	7366											
ARHGAP33	115703	genome.wustl.edu	37	19	36277857	36277857	+	Missense_Mutation	SNP	G	G	A	rs201575965	byFrequency	TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr19:36277857G>A	ENST00000007510.4	+	20	2629	c.2485G>A	c.(2485-2487)Ggc>Agc	p.G829S	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G693S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G668S|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	829					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.G668S(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCTCAGCCCCGGCCGGAGCCT	0.692													G|||	3	0.000599042	0	0.0029	5008	,	,		9481	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19											12	16	15					19																	36277857		2201	4285	6486	40969697	SO:0001583	missense	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2485G>A	19.37:g.36277857G>A	ENSP00000007510:p.Gly829Ser		40969697	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	0.004	-2.342314	0.00222	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11169	2.91;2.8;2.96	3.56	-2.67	0.06059	.	1.328920	0.05012	N	0.471059	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.38564	-0.9655	10	0.06891	T	0.86	.	5.3825	0.16199	0.6391:0.0:0.2085:0.1524	.	829;693;668	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	S	829;668;693	ENSP00000007510:G829S;ENSP00000320038:G668S;ENSP00000368227:G693S	ENSP00000007510:G829S	G	+	1	0	ARHGAP33	40969697	0.000000	0.05858	0.015000	0.15790	0.028000	0.11728	-0.179000	0.09768	-0.510000	0.06523	-0.137000	0.14449	GGC		0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		A	36277857	G	A	36277857	3	1	134	1	0	0	0	0	1	0	0	0	882	1116	39	1	2563	1	ARHGAP33	19	36277857	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	21505059	36277857	22851126	100	7367											
PRODH2	58510	genome.wustl.edu	37	19	36290978	36290978	+	Missense_Mutation	SNP	G	G	A	rs376496955		TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr19:36290978G>A	ENST00000301175.3	-	11	1590	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	AC002398.5_ENST00000433059.1_lincRNA	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	525			R -> Q (in dbSNP:rs3761097).		proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.R525W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAGCCGCCGCCACAGTTCT	0.617																																																1	Substitution - Missense(1)	ovary(1)	19						G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	31	25	27		1573	-1.2	0.6	19		27	0,8600		0,0,4300	no	missense	PRODH2	NM_021232.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	525/537	36290978	1,13005	2203	4300	6503	40982818	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1573C>T	19.37:g.36290978G>A	ENSP00000301175:p.Arg525Trp		40982818		Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796935	0.50208	2.27E-4	0.0	ENSG00000250799	ENST00000301175	T	0.33865	1.39	5.26	-1.21	0.09524	.	.	.	.	.	T	0.60090	0.2242	M	0.92833	3.35	0.40237	D	0.977911	D	0.89917	1.0	P	0.60609	0.877	T	0.68262	-0.5455	9	0.87932	D	0	.	10.5512	0.45090	0.0:0.122:0.255:0.623	.	525	Q9UF12	PROD2_HUMAN	W	525	ENSP00000301175:R525W	ENSP00000301175:R525W	R	-	1	2	PRODH2	40982818	0.005000	0.15991	0.641000	0.29422	0.509000	0.34042	0.187000	0.16998	-0.181000	0.10619	-0.188000	0.12872	CGG		0.617	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		A	36290978	G	A	36290978	3	1	134	1	0	0	0	0	1	0	0	0	12552	1086	38	1	41	1	PRODH2	19	36290978	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	13121	36290978	22838005	101	7368											
XRCC1	7515	genome.wustl.edu	37	19	44057035	44057035	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr19:44057035C>G	ENST00000262887.5	-	8	1284	c.737G>C	c.(736-738)aGg>aCg	p.R246T	XRCC1_ENST00000543982.1_Missense_Mutation_p.R215T|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	246					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)	p.R246T(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				ATCCAACTTCCTCTTCCCTTT	0.527								Other BER factors																																								1	Substitution - Missense(1)	ovary(1)	19											130	131	131					19																	44057035		2203	4300	6503	48748875	SO:0001583	missense	7515			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.737G>C	19.37:g.44057035C>G	ENSP00000262887:p.Arg246Thr		48748875	Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822077	0.71028	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.03272	3.99;4.0	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	M	0.69823	2.125	0.47153	D	0.999331	D;P	0.76494	0.999;0.956	D;B	0.80764	0.994;0.444	T	0.00022	-1.2339	10	0.56958	D	0.05	-32.2596	14.9933	0.71406	0.0:1.0:0.0:0.0	.	215;246	F5H8D7;P18887	.;XRCC1_HUMAN	T	260;246;215;246	ENSP00000262887:R246T;ENSP00000443671:R215T	ENSP00000262887:R246T	R	-	2	0	XRCC1	48748875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.326000	0.52037	2.683000	0.91414	0.655000	0.94253	AGG		0.527	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		G	44057035	C	G	44057035	3	3	134	1	0	0	0	0	1	0	0	0	17452	681	24	3	1204	3	XRCC1	19	44057035	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	7766057	44057035	15071948	102	7369											
ZNF677	342926	genome.wustl.edu	37	19	53740664	53740664	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr19:53740664G>T	ENST00000598513.1	-	5	1466	c.1316C>A	c.(1315-1317)gCt>gAt	p.A439D	ZNF677_ENST00000333952.4_Missense_Mutation_p.A439D	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	439					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.A439D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTGGATAAAAGCCCTGCCACA	0.378																																																1	Substitution - Missense(1)	ovary(1)	19											47	45	46					19																	53740664		2203	4300	6503	58432476	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1316C>A	19.37:g.53740664G>T	ENSP00000469391:p.Ala439Asp		58432476		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482546	0.26598	.	.	ENSG00000197928	ENST00000333952	T	0.14266	2.52	2.21	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.022480	0.07860	N	0.966104	T	0.16128	0.0388	M	0.62723	1.935	0.09310	N	1	B	0.25351	0.124	B	0.19391	0.025	T	0.30880	-0.9963	10	0.87932	D	0	.	8.3517	0.32305	0.0:0.5587:0.4412:0.0	.	439	Q86XU0	ZN677_HUMAN	D	439	ENSP00000334394:A439D	ENSP00000334394:A439D	A	-	2	0	ZNF677	58432476	0.000000	0.05858	0.042000	0.18584	0.731000	0.41821	-1.359000	0.02602	0.471000	0.27319	0.655000	0.94253	GCT		0.378	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		T	53740664	G	T	53740664	3	4	134	1	0	0	0	0	1	0	0	0	18084	971	34	3	442	3	ZNF677	19	53740664	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	9683629	53740664	5388319	103	7370											
ZIM2	23619	genome.wustl.edu	37	19	57286127	57286127	+	Nonsense_Mutation	SNP	G	G	A	rs144796320	byFrequency	TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr19:57286127G>A	ENST00000391708.3	-	12	2055	c.1513C>T	c.(1513-1515)Cga>Tga	p.R505*	ZIM2_ENST00000593711.1_Nonsense_Mutation_p.R505*|ZIM2_ENST00000221722.5_Nonsense_Mutation_p.R505*|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Nonsense_Mutation_p.R505*|ZIM2_ENST00000601070.1_Nonsense_Mutation_p.R505*	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R505*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TATGAGGGTCGGCCGAAACAT	0.438																																																1	Substitution - Nonsense(1)	ovary(1)	19						G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	110	103	105		1513,1513,1513	2.8	0.1	19	dbSNP_134	105	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained,stop-gained,stop-gained	ZIM2	NM_001146326.1,NM_001146327.1,NM_015363.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	505/528,505/528,505/528	57286127	2,13004	2203	4300	6503	61977939	SO:0001587	stop_gained	23619			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1513C>T	19.37:g.57286127G>A	ENSP00000375589:p.Arg505*		61977939	Q2M3K1	Nonsense_Mutation	SNP	ENST00000391708.3	37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029319	0.93518	0.0	2.33E-4	ENSG00000198300	ENST00000391708;ENST00000221722	.	.	.	4.96	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	9.9099	0.41399	0.1719:0.0:0.8281:0.0	.	.	.	.	X	505	.	ENSP00000221722:R505X	R	-	1	2	ZIM2	61977939	0.000000	0.05858	0.111000	0.21465	0.038000	0.13279	-0.539000	0.06113	1.320000	0.45209	0.655000	0.94253	CGA		0.438	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			A	57286127	G	A	57286127	4	1	134	1	0	0	0	0	0	1	0	0	17684	1124	39	1	74	1	ZIM2	19	57286127	Nonsense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	3545463	57286127	1842856	104	7371											
PEG3	5178	genome.wustl.edu	37	19	57325432	57325432	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr19:57325432C>T	ENST00000326441.9	-	10	4741	c.4378G>A	c.(4378-4380)Gac>Aac	p.D1460N	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1460N|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D1334N|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D1336N|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1460	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D1460N(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCTGGGTCTTCAATACCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											111	101	104					19																	57325432		2203	4300	6503	62017244	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4378G>A	19.37:g.57325432C>T	ENSP00000326581:p.Asp1460Asn		62017244	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341997	0.81911	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02709	4.19;4.19	4.07	4.07	0.47477	.	0.000000	0.47852	D	0.000210	T	0.05410	0.0143	L	0.27053	0.805	.	.	.	D;D;D	0.62365	0.991;0.991;0.991	P;P;P	0.58013	0.831;0.831;0.831	T	0.48917	-0.8992	9	0.31617	T	0.26	-33.8222	12.0647	0.53581	0.0:1.0:0.0:0.0	.	1336;1460;1395	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	N	1460	ENSP00000326581:D1460N;ENSP00000403051:D1460N	ENSP00000326581:D1460N	D	-	1	0	ZIM2	62017244	0.961000	0.32948	1.000000	0.80357	0.929000	0.56500	2.188000	0.42612	2.555000	0.86185	0.650000	0.86243	GAC		0.562	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57325432	C	T	57325432	3	4	134	1	0	0	0	0	1	0	0	0	11720	913	32	2	392	2	PEG3	19	57325432	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	39305	57325432	1803551	105	7372											
DEFB125	245938	genome.wustl.edu	37	20	76997	76997	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr20:76997C>T	ENST00000382410.2	+	2	410	c.410C>T	c.(409-411)tCt>tTt	p.S137F	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	137					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.S137F(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ATGCCACCATCTGAGACTGCT	0.433																																																1	Substitution - Missense(1)	ovary(1)	20											237	217	224					20																	76997		2203	4300	6503	24997	SO:0001583	missense	245938			AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"Defensins, beta"	18105	protein-coding gene	gene with protein product	"beta defensin 25"					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.410C>T	20.37:g.76997C>T	ENSP00000371847:p.Ser137Phe		24997	A1A502|Q7Z7B9	Missense_Mutation	SNP	ENST00000382410.2	37	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	8.888	0.953272	0.18431	.	.	ENSG00000178591	ENST00000382410	T	0.13538	2.58	0.361	0.361	0.16107	.	.	.	.	.	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	1	P	0.39520	0.676	P	0.45558	0.485	T	0.29941	-0.9995	8	0.66056	D	0.02	.	.	.	.	.	137	Q8N687	DB125_HUMAN	F	137	ENSP00000371847:S137F	ENSP00000371847:S137F	S	+	2	0	DEFB125	24997	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.736000	0.26130	0.406000	0.25560	0.411000	0.27672	TCT		0.433	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325		T	76997	C	T	76997	3	4	134	1	0	0	0	0	1	0	0	0	4411	913	32	2	416	2	DEFB125	20	76997	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09		76997	62948523	106	7373											
DEFB118	117285	genome.wustl.edu	37	20	29960710	29960710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr20:29960710C>T	ENST00000253381.2	+	2	142	c.109C>T	c.(109-111)Caa>Taa	p.Q37*		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	37					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.Q37*(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTGCAGGAAACAATGCAAAGA	0.428																																																1	Substitution - Nonsense(1)	ovary(1)	20											112	102	105					20																	29960710		2203	4300	6503	29424371	SO:0001587	stop_gained	117285			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.109C>T	20.37:g.29960710C>T	ENSP00000253381:p.Gln37*		29424371	Q17RC4|Q8N691|Q9NUH0	Nonsense_Mutation	SNP	ENST00000253381.2	37	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	9.054	0.992898	0.18966	.	.	ENSG00000131068	ENST00000253381	.	.	.	3.82	-4.14	0.03892	.	2.659000	0.01510	N	0.017885	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-22.9178	10.0205	0.42039	0.7154:0.1768:0.1078:0.0	.	.	.	.	X	37	.	ENSP00000253381:Q37X	Q	+	1	0	DEFB118	29424371	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.003000	0.03682	-0.814000	0.04352	-1.014000	0.02459	CAA		0.428	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		T	29960710	C	T	29960710	4	4	134	1	0	0	0	0	0	1	0	0	4406	479	17	2	115	2	DEFB118	20	29960710	Nonsense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09	29883713	29960710	33064810	107	7374											
KIAA1755	85449	genome.wustl.edu	37	20	36869648	36869648	+	Silent	SNP	G	G	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr20:36869648G>A	ENST00000279024.4	-	3	1156	c.885C>T	c.(883-885)ggC>ggT	p.G295G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	295								p.G295G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CACTGGATGTGCCTGCCTCCC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	20											104	109	107					20																	36869648		2203	4300	6503	36303062	SO:0001819	synonymous_variant	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.885C>T	20.37:g.36869648G>A			36303062	Q9C0A8	Silent	SNP	ENST00000279024.4	37	CCDS33467.1																																																																																				0.532	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		A	36869648	G	A	36869648	2	1	134	1	0	0	0	0	0	0	0	1	8257	1306	46	2		2	KIAA1755	20	36869648	Silent	SNP	G	TCGA-13-1488-01A-01W-0549-09	6908938	36869648	26155872	108	7375											
ZBED4	9889	genome.wustl.edu	37	22	50279381	50279381	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chr22:50279381C>A	ENST00000216268.5	+	2	2548	c.2071C>A	c.(2071-2073)Cag>Aag	p.Q691K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	691						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q691K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGAAACCTCAGTACTCCCT	0.443																																																1	Substitution - Missense(1)	ovary(1)	22											111	116	114					22																	50279381		2203	4300	6503	48665385	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2071C>A	22.37:g.50279381C>A	ENSP00000216268:p.Gln691Lys		48665385	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314293	0.81358	.	.	ENSG00000100426	ENST00000216268	T	0.45668	0.89	5.36	5.36	0.76844	.	0.065867	0.64402	D	0.000006	T	0.51550	0.1681	L	0.56396	1.775	0.80722	D	1	P	0.49185	0.92	P	0.50570	0.644	T	0.41197	-0.9522	10	0.25106	T	0.35	-28.2004	19.0818	0.93186	0.0:1.0:0.0:0.0	.	691	O75132	ZBED4_HUMAN	K	691	ENSP00000216268:Q691K	ENSP00000216268:Q691K	Q	+	1	0	ZBED4	48665385	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.361000	0.79497	2.492000	0.84095	0.655000	0.94253	CAG		0.443	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		A	50279381	C	A	50279381	3	1	134	1	0	0	0	0	1	0	0	0	17520	827	29	3	2073	3	ZBED4	22	50279381	Missense_Mutation	SNP	C	TCGA-13-1488-01A-01W-0549-09		50279381	1025185	109	7376											
BMX	660	genome.wustl.edu	37	X	15540592	15540592	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chrX:15540592A>C	ENST00000357607.2	+	7	822	c.634A>C	c.(634-636)Agt>Cgt	p.S212R	BMX_ENST00000348343.6_Missense_Mutation_p.S212R|BMX_ENST00000342014.6_Missense_Mutation_p.S212R			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	212					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.S212R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TTCAAGTACCAGTCTAGCGCA	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											134	112	119					X																	15540592		2203	4300	6503	15450513	SO:0001583	missense	660			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.634A>C	X.37:g.15540592A>C	ENSP00000350224:p.Ser212Arg		15450513	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	A	1.583	-0.531158	0.04112	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.75821	-0.97;-0.97;-0.97	0.235	0.235	0.15431	.	0.426324	0.23384	N	0.048765	T	0.50718	0.1632	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.39706	0.307	T	0.50092	-0.8868	9	0.87932	D	0	.	.	.	.	.	212	P51813	BMX_HUMAN	R	212	ENSP00000350224:S212R;ENSP00000308774:S212R;ENSP00000340082:S212R	ENSP00000340082:S212R	S	+	1	0	BMX	15450513	0.247000	0.23920	0.025000	0.17156	0.053000	0.15095	0.011000	0.13264	0.245000	0.21373	0.242000	0.17961	AGT		0.443	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		C	15540592	A	C	15540592	3	2	134	1	0	0	0	0	1	0	0	0	1473	188	7	5	656	5	BMX	23	15540592	Missense_Mutation	SNP	A	TCGA-13-1488-01A-01W-0549-09		15540592	139729968	110	7377											
MAP3K15	389840	genome.wustl.edu	37	X	19380909	19380910	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chrX:19380909_19380910delAG	ENST00000338883.4	-	26	3624_3625	c.3625_3626delCT	c.(3625-3627)ctafs	p.L1209fs	MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.L1041fs|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.L644fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1209							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.L684fs*33(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTTCTGTTCTAGAGTTTGCCGC	0.327																																																1	Deletion - Frameshift(1)	ovary(1)	X																																								19290831	SO:0001589	frameshift_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3625_3626delCT	X.37:g.19380911_19380912delAG	ENSP00000345629:p.Leu1209fs		19290830	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Frame_Shift_Del	DEL	ENST00000338883.4	37																																																																																					0.327	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		-	19380910	AG	-	19380909	7	5	134	1	0	1	0	1	0	0	0	0	9249	420	15	0	331	0	MAP3K15	23	19380909	Frame_Shift_Del	DEL	AG	TCGA-13-1488-01A-01W-0549-09	3840317	19380909	135889651	111	7378											
CCNB3	85417	genome.wustl.edu	37	X	50051868	50051868	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chrX:50051868G>T	ENST00000376042.1	+	6	997	c.699G>T	c.(697-699)aaG>aaT	p.K233N	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.K233N|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	233					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.K233N(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTTAAAGAAGAAGATGTGTG	0.438																																																2	Substitution - Missense(2)	ovary(2)	X											74	69	70					X																	50051868		2203	4299	6502	50068608	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.699G>T	X.37:g.50051868G>T	ENSP00000365210:p.Lys233Asn		50068608	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.133828	0.56828	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.37235	1.21;1.21	3.61	0.661	0.17874	.	694.678000	0.00166	N	0.000000	T	0.34250	0.0891	M	0.61703	1.905	0.09310	N	1	B	0.21225	0.053	B	0.19666	0.026	T	0.08722	-1.0708	9	.	.	.	.	1.4601	0.02394	0.1315:0.2042:0.4371:0.2272	.	233	Q8WWL7	CCNB3_HUMAN	N	233	ENSP00000365210:K233N;ENSP00000276014:K233N	.	K	+	3	2	CCNB3	50068608	0.211000	0.23529	0.022000	0.16811	0.357000	0.29423	0.184000	0.16939	0.013000	0.14918	0.594000	0.82650	AAG		0.438	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			T	50051868	G	T	50051868	3	4	134	1	0	0	0	0	1	0	0	0	2914	933	33	3	713	3	CCNB3	23	50051868	Missense_Mutation	SNP	G	TCGA-13-1488-01A-01W-0549-09	30670959	50051868	105218692	112	7379											
SH3BGRL	6451	genome.wustl.edu	37	X	80532536	80532536	+	Silent	SNP	A	A	G			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chrX:80532536A>G	ENST00000373212.5	+	2	357	c.99A>G	c.(97-99)ggA>ggG	p.G33G	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamate-rich protein like	33					positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.G33G(1)		endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				ACAAAATAGGATTTGAAGAAA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	X											55	52	53					X																	80532536		2203	4300	6503	80419192	SO:0001819	synonymous_variant	6451			AF042081	CCDS14449.1	Xq13.3	2014-02-19	2014-02-19		ENSG00000131171	ENSG00000131171			10823	protein-coding gene	gene with protein product		300190	"SH3 domain binding glutamic acid-rich protein like"			9642120	Standard	NM_003022		Approved	MGC117402	uc004eef.3	O75368	OTTHUMG00000021910	ENST00000373212.5:c.99A>G	X.37:g.80532536A>G			80419192	Q3SYL1|Q5JT50|Q6FIE8|Q9H0N8	Silent	SNP	ENST00000373212.5	37	CCDS14449.1																																																																																				0.398	SH3BGRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057350.1	NM_003022		G	80532536	A	G	80532536	2	3	134	1	0	0	0	0	0	0	0	1	14244	320	12	4		4	SH3BGRL	23	80532536	Silent	SNP	A	TCGA-13-1488-01A-01W-0549-09	30480668	80532536	74738024	113	7380											
TSPAN6	7105	genome.wustl.edu	37	X	99888435	99888435	+	Silent	SNP	A	A	C			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chrX:99888435A>C	ENST00000373020.4	-	5	663	c.552T>G	c.(550-552)acT>acG	p.T184T	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	184					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.T184T(1)		endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CTCTCTGTGGAGTACAATCTT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	X											82	76	78					X																	99888435		2203	4300	6503	99775091	SO:0001819	synonymous_variant	7105			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"Tetraspanins"	11858	protein-coding gene	gene with protein product		300191	"transmembrane 4 superfamily member 6"	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.552T>G	X.37:g.99888435A>C			99775091	Q54A42|Q6IAN9	Silent	SNP	ENST00000373020.4	37	CCDS14470.1																																																																																				0.343	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1			C	99888435	A	C	99888435	2	2	134	1	0	0	0	0	0	0	0	1	16651	291	11	5		5	TSPAN6	23	99888435	Silent	SNP	A	TCGA-13-1488-01A-01W-0549-09	19355899	99888435	55382125	114	7381											
NRK	203447	genome.wustl.edu	37	X	105132358	105132358	+	Silent	SNP	C	C	T			TCGA-13-1488-01A-01W-0549-09	TCGA-13-1488-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	886a8c10-63cf-4cb2-83d2-5a99bbda193d	ddb528a6-2be1-48e9-8a52-fc7dcbbb8201	g.chrX:105132358C>T	ENST00000243300.9	+	5	627	c.324C>T	c.(322-324)tcC>tcT	p.S108S	NRK_ENST00000428173.2_Silent_p.S108S|NRK_ENST00000536164.1_Silent_p.S108S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S108S(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACATTGTGTCCTTCTATGGAG	0.398										HNSCC(51;0.14)																																						1	Substitution - coding silent(1)	ovary(1)	X											111	91	98					X																	105132358		1897	4100	5997	105019014	SO:0001819	synonymous_variant	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.324C>T	X.37:g.105132358C>T			105019014	Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37																																																																																					0.398	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		T	105132358	C	T	105132358	2	4	134	1	0	0	0	0	0	0	0	1	10655	668	24	2		2	NRK	23	105132358	Silent	SNP	C	TCGA-13-1488-01A-01W-0549-09	5243923	105132358	50138202	115	7382											
SPOCD1	90853	genome.wustl.edu	37	1	32265458	32265458	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:32265458G>C	ENST00000360482.2	-	6	1864	c.1735C>G	c.(1735-1737)Cca>Gca	p.P579A	SPOCD1_ENST00000373648.2_Missense_Mutation_p.P520A|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P72A|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P579A	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	579					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.P579A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCCTCCATTGGGCCACTCTGT	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											56	56	56					1																	32265458		2203	4300	6503	32038045	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1735C>G	1.37:g.32265458G>C	ENSP00000353670:p.Pro579Ala		32038045	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938507	0.52972	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000373648;ENST00000533231;ENST00000528791	T;T;T;T	0.47528	0.84;1.77;0.88;1.79	3.95	2.05	0.26809	.	.	.	.	.	T	0.28732	0.0712	L	0.27053	0.805	0.09310	N	1	B;B	0.23891	0.093;0.056	B;B	0.19666	0.026;0.012	T	0.20174	-1.0283	9	0.16896	T	0.51	0.0439	5.4537	0.16578	0.1176:0.2415:0.6409:0.0	.	579;579	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	A	72;579;520;579;72	ENSP00000257100:P72A;ENSP00000353670:P579A;ENSP00000362752:P520A;ENSP00000435851:P579A	ENSP00000257100:P72A	P	-	1	0	SPOCD1	32038045	0.002000	0.14202	0.001000	0.08648	0.320000	0.28249	0.895000	0.28363	0.612000	0.30071	0.551000	0.68910	CCA		0.622	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		C	32265458	G	C	32265458	3	2	135	1	0	0	0	0	1	0	0	0	15080	1232	43	3	1959	3	SPOCD1	1	32265458	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09		32265458	216985163	1	7383											
DENND2D	79961	genome.wustl.edu	37	1	111742270	111742270	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:111742270G>T	ENST00000357640.4	-	2	447	c.218C>A	c.(217-219)cCt>cAt	p.P73H	DENND2D_ENST00000369752.5_Missense_Mutation_p.P70H|CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	73	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P73H(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GGTGATTATAGGCTCGTAATC	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											119	125	123					1																	111742270		2203	4300	6503	111543793	SO:0001583	missense	79961				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.218C>A	1.37:g.111742270G>T	ENSP00000350266:p.Pro73His		111543793	Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947048	0.73672	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.61392	0.11;0.11	5.93	5.93	0.95920	uDENN (3);	0.054688	0.85682	D	0.000000	T	0.77177	0.4092	M	0.87682	2.9	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80174	-0.1492	10	0.87932	D	0	-18.668	17.825	0.88662	0.0:0.0:1.0:0.0	.	70;73	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	H	73;70	ENSP00000350266:P73H;ENSP00000358767:P70H	ENSP00000350266:P73H	P	-	2	0	DENND2D	111543793	1.000000	0.71417	0.998000	0.56505	0.352000	0.29268	7.376000	0.79658	2.797000	0.96272	0.655000	0.94253	CCT		0.527	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		T	111742270	G	T	111742270	3	4	135	1	0	0	0	0	1	0	0	0	4431	1000	35	3	1241	3	DENND2D	1	111742270	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	79476812	111742270	137508351	2	7384											
MOV10	4343	genome.wustl.edu	37	1	113232556	113232556	+	Silent	SNP	G	G	A	rs138014327		TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:113232556G>A	ENST00000413052.2	+	5	1062	c.672G>A	c.(670-672)tcG>tcA	p.S224S	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Silent_p.S168S|MOV10_ENST00000369645.1_Silent_p.S224S|MOV10_ENST00000357443.2_Silent_p.S224S	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	224					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.S224S(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTGGGGAGTCGGGTTCAGAAG	0.592													G|||	1	0.000199681	0	0	5008	,	,		18338	0		0	False		,,,				2504	0.001															2	Substitution - coding silent(2)	ovary(1)|skin(1)	1						G	,	1,4405	2.1+/-5.4	0,1,2202	73	76	75		672,672	-10.5	0	1	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MOV10	NM_001130079.1,NM_020963.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	224/1004,224/1004	113232556	1,13005	2203	4300	6503	113034079	SO:0001819	synonymous_variant	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.672G>A	1.37:g.113232556G>A			113034079	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	CCDS853.1																																																																																				0.592	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		A	113232556	G	A	113232556	2	1	135	1	0	0	0	0	0	0	0	1	9718	1103	39	1		1	MOV10	1	113232556	Silent	SNP	G	TCGA-13-1489-01A-01W-0549-09	1490286	113232556	136018065	3	7385											
HIST2H2AB	317772	genome.wustl.edu	37	1	149859164	149859164	+	Silent	SNP	G	G	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:149859164G>T	ENST00000331128.3	-	1	302	c.303C>A	c.(301-303)gtC>gtA	p.V101V	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	101						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V101V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGGCAATGGTGACACCCCCGA	0.552																																																1	Substitution - coding silent(1)	ovary(1)	1											113	105	108					1																	149859164		2203	4300	6503	148125788	SO:0001819	synonymous_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.303C>A	1.37:g.149859164G>T			148125788		Silent	SNP	ENST00000331128.3	37	CCDS938.1																																																																																				0.552	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		T	149859164	G	T	149859164	2	4	135	1	0	0	0	0	0	0	0	1	7177	1277	45	3		3	HIST2H2AB	1	149859164	Silent	SNP	G	TCGA-13-1489-01A-01W-0549-09	36626608	149859164	99391457	4	7386											
FLG2	388698	genome.wustl.edu	37	1	152328934	152328934	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:152328934T>A	ENST00000388718.5	-	3	1400	c.1328A>T	c.(1327-1329)gAa>gTa	p.E443V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	443	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E443V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACATGTTGTTCGAACCCAGA	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											169	161	164					1																	152328934		2203	4300	6503	150595558	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1328A>T	1.37:g.152328934T>A	ENSP00000373370:p.Glu443Val		150595558	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	7.373	0.627210	0.14257	.	.	ENSG00000143520	ENST00000388718	T	0.19532	2.14	2.88	-2.47	0.06442	.	.	.	.	.	T	0.02970	0.0088	N	0.22421	0.69	0.09310	N	1	P	0.38978	0.652	B	0.30251	0.113	T	0.33777	-0.9855	9	0.31617	T	0.26	.	7.3158	0.26499	0.0:0.6944:0.0:0.3056	.	443	Q5D862	FILA2_HUMAN	V	443	ENSP00000373370:E443V	ENSP00000373370:E443V	E	-	2	0	FLG2	150595558	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.692000	0.05127	-0.939000	0.03709	-0.366000	0.07423	GAA		0.448	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152328934	T	A	152328934	3	1	135	1	0	0	0	0	1	0	0	0	5923	1783	62	5	5851	5	FLG2	1	152328934	Missense_Mutation	SNP	T	TCGA-13-1489-01A-01W-0549-09	2469770	152328934	96921687	5	7387											
IQGAP3	128239	genome.wustl.edu	37	1	156521875	156521875	+	Silent	SNP	G	G	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:156521875G>C	ENST00000361170.2	-	14	1471	c.1461C>G	c.(1459-1461)gcC>gcG	p.A487A		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	487					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.A487A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTTCAGCAGGGCATCGAAGT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	1											94	75	81					1																	156521875		2203	4300	6503	154788499	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1461C>G	1.37:g.156521875G>C			154788499	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																				0.542	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		C	156521875	G	C	156521875	2	2	135	1	0	0	0	0	0	0	0	1	7816	1219	43	3		3	IQGAP3	1	156521875	Silent	SNP	G	TCGA-13-1489-01A-01W-0549-09	4192941	156521875	92728746	6	7388											
FCRL1	115350	genome.wustl.edu	37	1	157773774	157773774	+	Silent	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:157773774G>A	ENST00000368176.3	-	3	247	c.180C>T	c.(178-180)gcC>gcT	p.A60A	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.A60A|FCRL1_ENST00000358292.3_Silent_p.A60A	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	60	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A60A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGGGCCCAAGGCCCGGGTGT	0.577																																					GBM(54;482 1003 11223 30131 35730)											1	Substitution - coding silent(1)	ovary(1)	1											80	84	83					1																	157773774		2203	4300	6503	156040398	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.180C>T	1.37:g.157773774G>A			156040398	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	CCDS1170.1																																																																																				0.577	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		A	157773774	G	A	157773774	2	1	135	1	0	0	0	0	0	0	0	1	5794	987	35	2		2	FCRL1	1	157773774	Silent	SNP	G	TCGA-13-1489-01A-01W-0549-09	1251899	157773774	91476847	7	7389											
DARC	2532	genome.wustl.edu	37	1	159175594	159175607	+	Frame_Shift_Del	DEL	GCACTCGCAGCTCT	GCACTCGCAGCTCT	-	rs200879437|rs529272627|rs563566546	byFrequency	TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	GCACTCGCAGCTCT	GCACTCGCAGCTCT	GCACTCGCAGCTCT	-	GCACTCGCAGCTCT	GCACTCGCAGCTCT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:159175594_159175607delGCACTCGCAGCTCT	ENST00000368122.2	+	2	1044_1057	c.365_378delGCACTCGCAGCTCT	c.(364-378)agcactcgcagctctfs	p.STRSS122fs	DARC_ENST00000368121.2_Frame_Shift_Del_p.STRSS124fs|DARC_ENST00000537147.1_Frame_Shift_Del_p.STRSS122fs|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		122					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T123fs*3(1)|p.S124R(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGGCTAGGTAGCACTCGCAGCTCTGCCCTGTGTA	0.65																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)	1																																								157442231	SO:0001589	frameshift_variant	2532																														ENST00000368122.2:c.365_378delGCACTCGCAGCTCT	1.37:g.159175594_159175607delGCACTCGCAGCTCT	ENSP00000357104:p.Ser122fs		157442218	A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Frame_Shift_Del	DEL	ENST00000368122.2	37	CCDS1183.1																																																																																				0.65	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			-	159175607	GCACTCGCAGCTCT	-	159175594	7	5	135	1	0	1	0	1	0	0	0	0	4240	971	34	0	398	0	DARC	1	159175594	Frame_Shift_Del	DEL	GCACTCGCAGCTCT	TCGA-13-1489-01A-01W-0549-09	1401820	159175594	90075027	8	7390											
ENAH	55740	genome.wustl.edu	37	1	225702312	225702312	+	Silent	SNP	T	T	G			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:225702312T>G	ENST00000366844.3	-	7	1655	c.1204A>C	c.(1204-1206)Agg>Cgg	p.R402R	ENAH_ENST00000366843.2_Silent_p.R402R|ENAH_ENST00000284563.6_Silent_p.R649R	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	402	EVH2 block A.|EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)	p.R402R(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GACACTTTCCTAAGTTTTGCT	0.368																																																1	Substitution - coding silent(1)	ovary(1)	1											47	50	49					1																	225702312		2200	4289	6489	223768935	SO:0001819	synonymous_variant	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1204A>C	1.37:g.225702312T>G			223768935	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Silent	SNP	ENST00000366844.3	37	CCDS31041.1																																																																																				0.368	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		G	225702312	T	G	225702312	2	3	135	1	0	0	0	0	0	0	0	1	5111	1521	53	5		5	ENAH	1	225702312	Silent	SNP	T	TCGA-13-1489-01A-01W-0549-09	66526718	225702312	23548309	9	7391											
KIF26B	55083	genome.wustl.edu	37	1	245809581	245809584	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	AAGT	AAGT	AAGT	-	AAGT	AAGT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr1:245809581_245809584delAAGT	ENST00000407071.2	+	10	2697_2698	c.2257_2258delAAGT	c.(2257-2259)aag>g	p.K753fs	KIF26B_ENST00000366518.4_Splice_Site_p.K372fs	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	753	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATTCCATACAAGTAAGTGACTCT	0.52																																																0			1																																								243876207	SO:0001630	splice_region_variant	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2258+1AAGT>-	1.37:g.245809585_245809588delAAGT			243876204	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Del	DEL	ENST00000407071.2	37	CCDS44342.1																																																																																				0.52	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	Frame_Shift_Del	-	245809584	AAGT	-	245809581	8	5	135	1	0	1	0	1	0	0	1	0	8295	144	5	0	2295	0	KIF26B	1	245809581	Splice_Site	DEL	AAGT	TCGA-13-1489-01A-01W-0549-09	20107269	245809581	3441040	10	7392											
C2orf16	84226	genome.wustl.edu	37	2	27804344	27804344	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr2:27804344G>C	ENST00000408964.2	+	1	4956	c.4905G>C	c.(4903-4905)caG>caC	p.Q1635H	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1635	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCTCTCAGAGGAGCCATC	0.572																																																0			2											118	118	118					2																	27804344		1871	4103	5974	27657848	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4905G>C	2.37:g.27804344G>C	ENSP00000386190:p.Gln1635His		27657848	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039555	0.19669	.	.	ENSG00000221843	ENST00000408964	T	0.05319	3.46	3.0	0.993	0.19825	.	.	.	.	.	T	0.04363	0.0120	N	0.22421	0.69	0.09310	N	1	P	0.42941	0.794	B	0.38616	0.277	T	0.38650	-0.9651	9	0.66056	D	0.02	.	5.4381	0.16492	0.1278:0.2074:0.6648:0.0	.	1635	Q68DN1	CB016_HUMAN	H	1635	ENSP00000386190:Q1635H	ENSP00000386190:Q1635H	Q	+	3	2	C2orf16	27657848	0.012000	0.17670	0.046000	0.18839	0.075000	0.17131	0.258000	0.18387	0.093000	0.17368	0.313000	0.20887	CAG		0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		C	27804344	G	C	27804344	3	2	135	1	0	0	0	0	1	0	0	0	2157	933	33	3	4907	3	C2orf16	2	27804344	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09		27804344	215395029	11	7393											
YSK4	80122	genome.wustl.edu	37	2	135749115	135749115	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr2:135749115T>C	ENST00000375845.3	-	6	640	c.610A>G	c.(610-612)Agc>Ggc	p.S204G	MAP3K19_ENST00000392917.3_Missense_Mutation_p.S204G|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S91G|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.S204G|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S221G|MAP3K19_ENST00000375844.3_Missense_Mutation_p.S204G	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	204							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S204G(1)									ACCTTGATGCTTCGGCCACTG	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											96	99	98					2																	135749115		2203	4300	6503	135465585	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.610A>G	2.37:g.135749115T>C	ENSP00000365005:p.Ser204Gly		135465585	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	9.263	1.043733	0.19748	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;T;T;T;T;T	0.71934	-0.56;-0.51;-0.57;-0.61;-0.52;1.82	4.0	4.0	0.46444	.	0.376195	0.19457	N	0.113789	T	0.60919	0.2306	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B;B	0.31290	0.164;0.318;0.187;0.135;0.318;0.135;0.255	B;B;B;B;B;B;B	0.32762	0.123;0.106;0.106;0.109;0.152;0.109;0.071	T	0.63377	-0.6651	10	0.56958	D	0.05	.	9.5007	0.39015	0.0:0.0:0.0:1.0	.	204;204;91;204;221;204;204	B7ZMH9;Q56UN5-2;Q56UN5-3;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;.;YSK4_HUMAN	G	204;91;204;204;204;221	ENSP00000365005:S204G;ENSP00000351140:S91G;ENSP00000365004:S204G;ENSP00000376650:S204G;ENSP00000376649:S204G;ENSP00000376647:S221G	ENSP00000351140:S91G	S	-	1	0	YSK4	135465585	0.481000	0.25941	0.260000	0.24451	0.005000	0.04900	1.090000	0.30902	1.806000	0.52798	0.482000	0.46254	AGC		0.353	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		C	135749115	T	C	135749115	3	2	135	1	0	0	0	0	1	0	0	0	17495	1609	56	4	3396	4	YSK4	2	135749115	Missense_Mutation	SNP	T	TCGA-13-1489-01A-01W-0549-09	107944771	135749115	107450258	12	7394											
SCN1A	6323	genome.wustl.edu	37	2	166900452	166900452	+	Silent	SNP	G	G	A	rs146520391		TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr2:166900452G>A	ENST00000303395.4	-	11	1769	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F590F|SCN1A_ENST00000375405.3_Silent_p.F590F|SCN1A_ENST00000423058.2_Silent_p.F590F|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	590					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.F590F(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATCATCTGCGAAGTCGTTCT	0.517																																																1	Substitution - coding silent(1)	ovary(1)	2						G	,,,	2,4404	4.2+/-10.8	0,2,2201	147	134	138		1770,1770,1770,1770	3	1	2	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	590/2010,590/1982,590/2010,590/1999	166900452	2,13004	2203	4300	6503	166608698	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1770C>T	2.37:g.166900452G>A			166608698	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.517	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		A	166900452	G	A	166900452	2	1	135	1	0	0	0	0	0	0	0	1	13917	1049	37	1		1	SCN1A	2	166900452	Silent	SNP	G	TCGA-13-1489-01A-01W-0549-09	31151337	166900452	76298921	13	7395											
INHA	3623	genome.wustl.edu	37	2	220440019	220440019	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr2:220440019G>C	ENST00000243786.2	+	2	1052	c.872G>C	c.(871-873)tGt>tCt	p.C291S		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	291					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.C291S(1)|p.C291Y(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTCCACTACTGTCATGGTGGT	0.612																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	2											168	164	166					2																	220440019		2203	4300	6503	220148263	SO:0001583	missense	3623				CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.872G>C	2.37:g.220440019G>C	ENSP00000243786:p.Cys291Ser		220148263	A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804310	0.70682	.	.	ENSG00000123999	ENST00000243786	D	0.99830	-7.01	5.48	4.6	0.57074	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.093959	0.85682	D	0.000000	D	0.99873	0.9940	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96304	0.9223	9	.	.	.	-12.04	16.3326	0.83048	0.0:0.1322:0.8678:0.0	.	291	P05111	INHA_HUMAN	S	291	ENSP00000243786:C291S	.	C	+	2	0	INHA	220148263	1.000000	0.71417	0.985000	0.45067	0.900000	0.52787	8.772000	0.91757	1.291000	0.44653	0.561000	0.74099	TGT		0.612	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			C	220440019	G	C	220440019	3	2	135	1	0	0	0	0	1	0	0	0	7740	1377	48	3	878	3	INHA	2	220440019	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	53539567	220440019	22759354	14	7396											
CELSR3	1951	genome.wustl.edu	37	3	48697952	48697952	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr3:48697952C>T	ENST00000164024.4	-	1	2396	c.2116G>A	c.(2116-2118)Ggc>Agc	p.G706S	CELSR3_ENST00000544264.1_Missense_Mutation_p.G706S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	706	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G706S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGACCCAGCCAGTGGCGCTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	3											55	52	53					3																	48697952		2203	4300	6503	48672956	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2116G>A	3.37:g.48697952C>T	ENSP00000164024:p.Gly706Ser		48672956	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368279	0.82463	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.05996	3.36;3.36	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42787	0.1218	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.992;1.0	T	0.59915	-0.7364	9	0.87932	D	0	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	706;776	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	706	ENSP00000164024:G706S;ENSP00000445694:G706S	ENSP00000164024:G706S	G	-	1	0	CELSR3	48672956	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.770000	0.85390	2.825000	0.97269	0.655000	0.94253	GGC		0.557	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48697952	C	T	48697952	3	4	135	1	0	0	0	0	1	0	0	0	3223	594	21	2	7962	2	CELSR3	3	48697952	Missense_Mutation	SNP	C	TCGA-13-1489-01A-01W-0549-09		48697952	149324478	15	7397											
CACNA1D	776	genome.wustl.edu	37	3	53531197	53531197	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr3:53531197G>T	ENST00000350061.5	+	2	597	c.86G>T	c.(85-87)gGc>gTc	p.G29V	CACNA1D_ENST00000288139.4_Missense_Mutation_p.G29V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G29V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	29					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.G29V(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TATGCAAGAGGCACCAGACTT	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											47	49	49					3																	53531197		2203	4300	6503	53506237	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.86G>T	3.37:g.53531197G>T	ENSP00000288133:p.Gly29Val		53506237	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182869	0.57800	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.96073	-3.87;-3.9;-3.88	5.88	5.88	0.94601	.	1.369300	0.04234	N	0.335773	D	0.93871	0.8039	L	0.29908	0.895	0.80722	D	1	B;B;P	0.35908	0.392;0.392;0.527	B;B;B	0.32533	0.07;0.07;0.147	T	0.80274	-0.1451	10	0.66056	D	0.02	.	20.218	0.98305	0.0:0.0:1.0:0.0	.	29;29;29	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	V	29	ENSP00000288133:G29V;ENSP00000288139:G29V;ENSP00000409174:G29V	ENSP00000288139:G29V	G	+	2	0	CACNA1D	53506237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.430000	0.90283	2.791000	0.96007	0.561000	0.74099	GGC		0.448	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53531197	G	T	53531197	3	4	135	1	0	0	0	0	1	0	0	0	2541	1203	42	3	92	3	CACNA1D	3	53531197	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	4833245	53531197	144491233	16	7398											
STXBP5L	9515	genome.wustl.edu	37	3	121137248	121137248	+	Missense_Mutation	SNP	T	T	G	rs377695658		TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr3:121137248T>G	ENST00000273666.6	+	27	3634	c.3363T>G	c.(3361-3363)agT>agG	p.S1121R	STXBP5L_ENST00000471454.1_Missense_Mutation_p.S1097R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1121	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1121R(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GACCAGGTAGTATAGAAGGGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											50	56	54					3																	121137248		2004	4179	6183	122619938	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3363T>G	3.37:g.121137248T>G	ENSP00000273666:p.Ser1121Arg		122619938	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	8.371	0.835414	0.16820	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.24151	1.87;1.87;1.88	5.35	-10.7	0.00240	Synaptobrevin (1);	0.232564	0.43747	D	0.000531	T	0.07234	0.0183	N	0.08118	0	0.80722	D	1	B;B	0.21147	0.052;0.052	B;B	0.27170	0.038;0.077	T	0.44667	-0.9313	10	0.35671	T	0.21	-1.4673	2.0845	0.03642	0.2414:0.3307:0.2504:0.1774	.	1097;1121	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	1121;1097;1064	ENSP00000273666:S1121R;ENSP00000420019:S1097R;ENSP00000420167:S1064R	ENSP00000273666:S1121R	S	+	3	2	STXBP5L	122619938	0.000000	0.05858	0.048000	0.18961	0.623000	0.37688	-3.686000	0.00393	-2.717000	0.00390	-0.899000	0.02877	AGT		0.507	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			G	121137248	T	G	121137248	3	3	135	1	0	0	0	0	1	0	0	0	15359	1635	57	5	3465	5	STXBP5L	3	121137248	Missense_Mutation	SNP	T	TCGA-13-1489-01A-01W-0549-09	67606051	121137248	76885182	17	7399											
SLC36A2	153201	genome.wustl.edu	37	5	150704952	150704952	+	Missense_Mutation	SNP	C	C	A	rs577271191		TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr5:150704952C>A	ENST00000335244.4	-	8	1034	c.905G>T	c.(904-906)gGa>gTa	p.G302V	SLC36A2_ENST00000450886.1_Missense_Mutation_p.G26V|SLC36A2_ENST00000521967.1_Missense_Mutation_p.G302V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	302					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.G302V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GATGGACATTCCCAAAGACAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	5											105	92	96					5																	150704952		2203	4300	6503	150685145	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.905G>T	5.37:g.150704952C>A	ENSP00000334223:p.Gly302Val		150685145	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	CCDS4315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.512062|4.512062	0.85389|0.85389	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000523044|ENST00000335244;ENST00000450886;ENST00000521967	.|T;T;T	.|0.02085	.|4.46;4.46;4.46	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	.|0.225652	.|0.44688	.|D	.|0.000434	.|T	.|0.10637	.|0.0260	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	.|D;P	.|0.55172	.|0.97;0.828	.|D;P	.|0.68765	.|0.96;0.838	.|T	.|0.08806	.|-1.0704	.|10	.|0.33940	.|T	.|0.23	-11.5759|-11.5759	18.4691|18.4691	0.90766|0.90766	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|302;302	.|E5RJJ5;Q495M3	.|.;S36A2_HUMAN	X|V	55|302;26;302	.|ENSP00000334223:G302V;ENSP00000399479:G26V;ENSP00000430535:G302V	.|ENSP00000334223:G302V	E|G	-|-	1|2	0|0	SLC36A2|SLC36A2	150685145|150685145	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.777000|0.777000	0.43975|0.43975	7.317000|7.317000	0.79018|0.79018	2.660000|2.660000	0.90430|0.90430	0.467000|0.467000	0.42956|0.42956	GAA|GGA		0.493	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			A	150704952	C	A	150704952	3	1	135	1	0	0	0	0	1	0	0	0	14597	855	30	3	558	3	SLC36A2	5	150704952	Missense_Mutation	SNP	C	TCGA-13-1489-01A-01W-0549-09		150704952	30210308	18	7400											
NOTCH4	4855	genome.wustl.edu	37	6	32172107	32172107	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr6:32172107T>A	ENST00000375023.3	-	19	3063	c.2925A>T	c.(2923-2925)caA>caT	p.Q975H		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	975	EGF-like 25. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.Q975H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGACAGGGTTGGGACTGAC	0.562																																																1	Substitution - Missense(1)	ovary(1)	6											109	88	95					6																	32172107		1509	2709	4218	32280085	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2925A>T	6.37:g.32172107T>A	ENSP00000364163:p.Gln975His		32280085	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.133157	0.56828	.	.	ENSG00000204301	ENST00000375023	D	0.86865	-2.18	4.91	-2.14	0.07123	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.348667	0.20639	N	0.088430	T	0.59878	0.2226	L	0.31752	0.955	0.80722	D	1	B	0.22080	0.064	B	0.22386	0.039	T	0.39800	-0.9596	9	.	.	.	.	6.9956	0.24780	0.0:0.2079:0.1448:0.6474	.	975	Q99466	NOTC4_HUMAN	H	975	ENSP00000364163:Q975H	.	Q	-	3	2	NOTCH4	32280085	0.000000	0.05858	0.991000	0.47740	0.999000	0.98932	-3.451000	0.00466	-0.273000	0.09246	0.533000	0.62120	CAA		0.562	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32172107	T	A	32172107	3	1	135	1	0	0	0	0	1	0	0	0	10551	1722	60	5	3134	5	NOTCH4	6	32172107	Missense_Mutation	SNP	T	TCGA-13-1489-01A-01W-0549-09		32172107	138942960	19	7401											
RIMS1	22999	genome.wustl.edu	37	6	72975151	72975151	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr6:72975151C>A	ENST00000521978.1	+	21	3253	c.3253C>A	c.(3253-3255)Cat>Aat	p.H1085N	RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000520567.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1085					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.H1085N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATTTCCCTTCATCATGAATG	0.323																																																1	Substitution - Missense(1)	ovary(1)	6											102	95	97					6																	72975151		1856	4102	5958	73031872	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3253C>A	6.37:g.72975151C>A	ENSP00000428417:p.His1085Asn		73031872	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539508	0.27563	.	.	ENSG00000079841	ENST00000521978	T	0.12465	2.68	5.42	3.63	0.41609	.	0.166643	0.28230	N	0.016102	T	0.02083	0.0065	N	0.08118	0	0.58432	D	0.999991	B	0.14012	0.009	B	0.12156	0.007	T	0.38373	-0.9664	10	0.13470	T	0.59	-5.8025	9.771	0.40589	0.0:0.8412:0.0:0.1588	.	1085	Q86UR5	RIMS1_HUMAN	N	1085	ENSP00000428417:H1085N	ENSP00000428417:H1085N	H	+	1	0	RIMS1	73031872	0.004000	0.15560	0.631000	0.29282	0.969000	0.65631	1.759000	0.38420	1.287000	0.44583	0.585000	0.79938	CAT		0.323	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			A	72975151	C	A	72975151	3	1	135	1	0	0	0	0	1	0	0	0	13370	826	29	3	3498	3	RIMS1	6	72975151	Missense_Mutation	SNP	C	TCGA-13-1489-01A-01W-0549-09	40803044	72975151	98139916	20	7402											
LATS1	9113	genome.wustl.edu	37	6	150004239	150004239	+	Silent	SNP	T	T	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr6:150004239T>C	ENST00000543571.1	-	4	2533	c.1986A>G	c.(1984-1986)aaA>aaG	p.K662K	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Silent_p.K662K|LATS1_ENST00000392273.3_Silent_p.K662K	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.K662K(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCTCTAATTGTTTTTTACGAT	0.308																																																1	Substitution - coding silent(1)	ovary(1)	6											55	52	53					6																	150004239		2202	4300	6502	150045932	SO:0001819	synonymous_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1986A>G	6.37:g.150004239T>C			150045932		Silent	SNP	ENST00000543571.1	37	CCDS34551.1																																																																																				0.308	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		C	150004239	T	C	150004239	2	2	135	1	0	0	0	0	0	0	0	1	8646	1722	60	4		4	LATS1	6	150004239	Silent	SNP	T	TCGA-13-1489-01A-01W-0549-09	77029088	150004239	21110828	21	7403											
CYP3A43	64816	genome.wustl.edu	37	7	99457614	99457614	+	Splice_Site	SNP	G	G	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr7:99457614G>T	ENST00000354829.2	+	10	1129		c.e10+1		CYP3A43_ENST00000444905.1_Splice_Site|CYP3A43_ENST00000417625.1_Splice_Site|CYP3A43_ENST00000222382.5_Splice_Site|CYP3A43_ENST00000312017.5_Splice_Site|CYP3A43_ENST00000415413.1_Splice_Site|CYP3A43_ENST00000342499.4_Splice_Site|CYP3A43_ENST00000477658.1_Splice_Site	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	ACCCAATAAGGTAAGGGGATG	0.493																																																1	Unknown(1)	ovary(1)	7											83	80	81					7																	99457614		2203	4300	6503	99295550	SO:0001630	splice_region_variant	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1026+1G>T	7.37:g.99457614G>T			99295550	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Splice_Site	SNP	ENST00000354829.2	37	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413095	0.25465	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0606	0.47944	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP3A43	99295550	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	8.729000	0.91490	1.694000	0.51137	0.205000	0.17691	.		0.493	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1		Intron	T	99457614	G	T	99457614	5	4	135	1	0	0	0	0	0	0	1	0	4179	1275	44	3	1065	3	CYP3A43	7	99457614	Splice_Site	SNP	G	TCGA-13-1489-01A-01W-0549-09		99457614	59681049	22	7404											
EXOC4	60412	genome.wustl.edu	37	7	133580353	133580353	+	Splice_Site	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr7:133580353G>A	ENST00000253861.4	+	12	1765	c.1736G>A	c.(1735-1737)aGc>aAc	p.S579N	EXOC4_ENST00000545148.1_Splice_Site_p.S189N|EXOC4_ENST00000539845.1_Splice_Site_p.S478N|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	579					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.S579N(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CATTTCCAGAGCACAATCATT	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											194	170	178					7																	133580353		2203	4300	6503	133230893	SO:0001630	splice_region_variant	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1735-1G>A	7.37:g.133580353G>A			133230893	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520042	0.64747	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;P;D	0.71656	0.974;0.895;0.972	T	0.68834	-0.5304	9	0.27785	T	0.31	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	111;189;579	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	N	579;198;478;189	.	ENSP00000253861:S579N	S	+	2	0	EXOC4	133230893	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	9.841000	0.99482	2.894000	0.99253	0.591000	0.81541	AGC		0.418	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	Missense_Mutation	A	133580353	G	A	133580353	5	1	135	1	0	0	0	0	0	0	1	0	5306	985	34	2	1791	2	EXOC4	7	133580353	Splice_Site	SNP	G	TCGA-13-1489-01A-01W-0549-09	34122739	133580353	25558310	23	7405											
HIPK2	28996	genome.wustl.edu	37	7	139285283	139285283	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr7:139285283G>A	ENST00000406875.3	-	11	2409	c.2315C>T	c.(2314-2316)aCc>aTc	p.T772I	HIPK2_ENST00000342645.6_Missense_Mutation_p.T772I|HIPK2_ENST00000428878.2_Missense_Mutation_p.T745I	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	772	Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.T772I(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CACATGACCGGTCAATAGTGC	0.552																																																1	Substitution - Missense(1)	ovary(1)	7											108	113	111					7																	139285283		2137	4240	6377	138935823	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2315C>T	7.37:g.139285283G>A	ENSP00000385571:p.Thr772Ile		138935823	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37		.	.	.	.	.	.	.	.	.	.	G	19.68	3.872056	0.72180	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.27256	1.68;1.68;1.68	4.84	3.95	0.45737	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.39847	D	0.973182	B;B	0.21606	0.058;0.039	B;B	0.26416	0.046;0.069	T	0.11792	-1.0573	8	0.56958	D	0.05	.	14.9599	0.71147	0.0:0.0:0.8562:0.1438	.	772;745	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	I	772;745;772	ENSP00000385571:T772I;ENSP00000413724:T745I;ENSP00000343108:T772I	ENSP00000343108:T772I	T	-	2	0	HIPK2	138935823	1.000000	0.71417	0.927000	0.36925	0.968000	0.65278	7.400000	0.79949	1.388000	0.46506	-0.175000	0.13238	ACC		0.552	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		A	139285283	G	A	139285283	3	1	135	1	0	0	0	0	1	0	0	0	7117	1261	44	2	1301	2	HIPK2	7	139285283	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	5704930	139285283	19853380	24	7406											
MGAM	8972	genome.wustl.edu	37	7	141750507	141750507	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr7:141750507A>G	ENST00000549489.2	+	24	2743	c.2648A>G	c.(2647-2649)gAg>gGg	p.E883G	MGAM_ENST00000475668.2_Missense_Mutation_p.E883G	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	883	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.E883G(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACCGCTTGGAGGTGAATATT	0.368																																																1	Substitution - Missense(1)	ovary(1)	7											65	56	59					7																	141750507		1828	4077	5905	141396976	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2648A>G	7.37:g.141750507A>G	ENSP00000447378:p.Glu883Gly		141396976	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337081	0.24253	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89617	-2.54	5.67	4.49	0.54785	.	0.575031	0.16542	N	0.209905	D	0.82481	0.5046	L	0.31926	0.97	0.24222	N	0.995435	B	0.02656	0.0	B	0.04013	0.001	T	0.67264	-0.5714	10	0.25106	T	0.35	.	11.9001	0.52678	0.8538:0.1462:0.0:0.0	.	883	O43451	MGA_HUMAN	G	883;883;760	ENSP00000447378:E883G	ENSP00000316431:E760G	E	+	2	0	MGAM	141396976	0.932000	0.31603	0.476000	0.27291	0.723000	0.41478	2.804000	0.47931	0.958000	0.37956	0.374000	0.22700	GAG		0.368	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			G	141750507	A	G	141750507	3	3	135	1	0	0	0	0	1	0	0	0	9541	304	11	4	2738	4	MGAM	7	141750507	Missense_Mutation	SNP	A	TCGA-13-1489-01A-01W-0549-09	2465224	141750507	17388156	25	7407											
CSPP1	79848	genome.wustl.edu	37	8	68087634	68087634	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr8:68087634G>C	ENST00000262210.5	+	24	3088	c.3057G>C	c.(3055-3057)aaG>aaC	p.K1019N	ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.K674N	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1054					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.K1019N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGCAGCAGAAGAGGCTGAACA	0.433																																																1	Substitution - Missense(1)	ovary(1)	8											56	55	55					8																	68087634		1910	4120	6030	68250188	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3057G>C	8.37:g.68087634G>C	ENSP00000262210:p.Lys1019Asn		68250188	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595136	0.66219	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.34859	1.34;1.37;1.37	4.8	2.98	0.34508	.	0.232657	0.35291	N	0.003310	T	0.41766	0.1173	L	0.56769	1.78	0.80722	D	1	P;P;P;P	0.49783	0.928;0.726;0.928;0.835	P;B;P;P	0.50659	0.647;0.385;0.647;0.553	T	0.29458	-1.0011	10	0.46703	T	0.11	-13.3239	9.7889	0.40692	0.1734:0.0:0.8266:0.0	.	177;674;1019;1054	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	N	1019;1054;674;674	ENSP00000262210:K1019N;ENSP00000415782:K674N;ENSP00000430092:K674N	ENSP00000262210:K1019N	K	+	3	2	CSPP1	68250188	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	3.962000	0.56766	1.146000	0.42352	0.591000	0.81541	AAG		0.433	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		C	68087634	G	C	68087634	3	2	135	1	0	0	0	0	1	0	0	0	3962	933	33	3	3264	3	CSPP1	8	68087634	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09		68087634	78276388	26	7408											
INVS	27130	genome.wustl.edu	37	9	103004892	103004892	+	Silent	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr9:103004892G>A	ENST00000262457.2	+	7	1022	c.837G>A	c.(835-837)aaG>aaA	p.K279K	INVS_ENST00000262456.2_Silent_p.K279K|INVS_ENST00000541287.1_Silent_p.K183K	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	279					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.K279K(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AAAGAAATAAGTCTGGAACTA	0.363																																																1	Substitution - coding silent(1)	ovary(1)	9											118	120	119					9																	103004892		2203	4300	6503	102044713	SO:0001819	synonymous_variant	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.837G>A	9.37:g.103004892G>A			102044713	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	CCDS6746.1																																																																																				0.363	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		A	103004892	G	A	103004892	2	1	135	1	0	0	0	0	0	0	0	1	7787	1020	36	2		2	INVS	9	103004892	Silent	SNP	G	TCGA-13-1489-01A-01W-0549-09		103004892	38208539	27	7409											
ANK3	288	genome.wustl.edu	37	10	61831615	61831615	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr10:61831615G>C	ENST00000280772.2	-	37	9215	c.9024C>G	c.(9022-9024)caC>caG	p.H3008Q	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3008					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.H3008Q(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAGAATTAAAGTGCTGTGTCT	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											52	54	53					10																	61831615		2203	4300	6503	61501621	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9024C>G	10.37:g.61831615G>C	ENSP00000280772:p.His3008Gln		61501621	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	6.484	0.457506	0.12342	.	.	ENSG00000151150	ENST00000280772	T	0.62364	0.03	5.54	3.64	0.41730	.	0.328233	0.22130	N	0.064214	T	0.34542	0.0901	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10520	-1.0626	10	0.19147	T	0.46	.	5.1782	0.15146	0.1953:0.2176:0.5871:0.0	.	3008	Q12955	ANK3_HUMAN	Q	3008	ENSP00000280772:H3008Q	ENSP00000280772:H3008Q	H	-	3	2	ANK3	61501621	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.165000	0.31822	1.355000	0.45865	0.462000	0.41574	CAC		0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61831615	G	C	61831615	3	2	135	1	0	0	0	0	1	0	0	0	622	1020	36	3	4450	3	ANK3	10	61831615	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09		61831615	73703132	28	7410											
MYST4	23522	genome.wustl.edu	37	10	76789435	76789435	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr10:76789435G>T	ENST00000287239.4	+	18	5342	c.4853G>T	c.(4852-4854)aGt>aTt	p.S1618I	KAT6B_ENST00000372711.1_Missense_Mutation_p.S1435I|KAT6B_ENST00000372714.1_Missense_Mutation_p.S1326I|KAT6B_ENST00000372724.1_Missense_Mutation_p.S1326I|KAT6B_ENST00000372725.1_Missense_Mutation_p.S1326I	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1618	Interaction with RUNX1 and RUNX2.|Ser-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1618I(1)									AACAGCCCAAGTGTCCCTGCT	0.552																																																1	Substitution - Missense(1)	ovary(1)	10											172	143	153					10																	76789435		2203	4300	6503	76459441	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4853G>T	10.37:g.76789435G>T	ENSP00000287239:p.Ser1618Ile		76459441	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	8.446	0.852070	0.17034	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78816	-1.2;-1.2;-1.21;-1.2;-1.2	4.7	3.73	0.42828	.	0.119652	0.38058	N	0.001824	T	0.57242	0.2040	N	0.08118	0	0.33942	D	0.643332	P;B;B	0.49090	0.919;0.144;0.417	B;B;B	0.43052	0.406;0.118;0.239	T	0.69446	-0.5143	10	0.87932	D	0	-8.0448	6.1539	0.20326	0.1332:0.1912:0.6756:0.0	.	1435;1326;1618	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	I	1326;1326;1618;1326;1435	ENSP00000361810:S1326I;ENSP00000361809:S1326I;ENSP00000287239:S1618I;ENSP00000361799:S1326I;ENSP00000361796:S1435I	ENSP00000287239:S1618I	S	+	2	0	KAT6B	76459441	0.686000	0.27661	0.998000	0.56505	0.985000	0.73830	2.447000	0.44917	2.154000	0.67381	0.563000	0.77884	AGT		0.552	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		T	76789435	G	T	76789435	3	4	135	1	0	0	0	0	1	0	0	0	10105	1029	36	3	4915	3	MYST4	10	76789435	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	14957820	76789435	58745312	29	7411											
HIPK3	10114	genome.wustl.edu	37	11	33358691	33358692	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	GA	GA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr11:33358691_33358692GA>TT	ENST00000303296.4	+	4	1597_1598	c.1292_1293GA>TT	c.(1291-1293)aGA>aTT	p.R431I	HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000525975.1_Missense_Mutation_p.R431I|HIPK3_ENST00000456517.1_Missense_Mutation_p.R431I|HIPK3_ENST00000379016.3_Missense_Mutation_p.R431I	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	431	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R431I(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AAATCCACAAGATTTTTTTGCA	0.312																																																1	Substitution - Missense(1)	ovary(1)	11																																								33315268	SO:0001583	missense	10114			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	Exception_encountered	11.37:g.33358691_33358692delinsTT	ENSP00000304226:p.Arg431Ile		33315267	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	DNP	ENST00000303296.4	37	CCDS7884.1																																																																																				0.312	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		TT	33358692	GA	TT	33358691	3	4	135	1	0	0	0	0	1	0	0	0	7118	942	33	3	1302	3	HIPK3	11	33358691	Missense_Mutation	DNP	GA	TCGA-13-1489-01A-01W-0549-09		33358691	101647825	30	7412											
PEX16	9409	genome.wustl.edu	37	11	45935878	45935878	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr11:45935878G>A	ENST00000378750.5	-	7	926	c.683C>T	c.(682-684)cCg>cTg	p.P228L	PEX16_ENST00000532681.1_Missense_Mutation_p.P133L|PEX16_ENST00000241041.3_Missense_Mutation_p.P228L|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	228	Interaction with PEX19.				ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)	p.P228L(1)		large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GTGCAGCAGCGGCCGGGCAAT	0.652																																																1	Substitution - Missense(1)	ovary(1)	11											39	47	44					11																	45935878		2203	4299	6502	45892454	SO:0001583	missense	9409			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.683C>T	11.37:g.45935878G>A	ENSP00000368024:p.Pro228Leu		45892454	Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942584	0.92526	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151;ENST00000525192	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85099	0.0956	10	0.87932	D	0	-36.6756	19.6428	0.95764	0.0:0.0:1.0:0.0	.	228;228	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	L	228;228;133;124;133	ENSP00000241041:P228L;ENSP00000368024:P228L;ENSP00000434654:P133L;ENSP00000433045:P124L;ENSP00000431309:P133L	ENSP00000241041:P228L	P	-	2	0	PEX16	45892454	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.219000	0.95173	2.645000	0.89757	0.549000	0.68633	CCG		0.652	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		A	45935878	G	A	45935878	3	1	135	1	0	0	0	0	1	0	0	0	11743	1116	39	1	440	1	PEX16	11	45935878	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	12577187	45935878	89070638	31	7413											
OR5B21	219968	genome.wustl.edu	37	11	58275168	58275168	+	Silent	SNP	A	A	G			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr11:58275168A>G	ENST00000360374.2	-	1	410	c.411T>C	c.(409-411)ggT>ggC	p.G137G		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G137G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGGCACACACACCTGCTGTCA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	11											121	97	105					11																	58275168		2201	4295	6496	58031744	SO:0001819	synonymous_variant	219968				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"GPCR / Class A : Olfactory receptors"	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.411T>C	11.37:g.58275168A>G			58031744		Silent	SNP	ENST00000360374.2	37	CCDS31552.1																																																																																				0.537	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		G	58275168	A	G	58275168	2	3	135	1	0	0	0	0	0	0	0	1	11151	146	6	4		4	OR5B21	11	58275168	Silent	SNP	A	TCGA-13-1489-01A-01W-0549-09	12339290	58275168	76731348	32	7414											
ALG9	79796	genome.wustl.edu	37	11	111724117	111724117	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr11:111724117C>T	ENST00000531154.1	-	8	840	c.368G>A	c.(367-369)gGa>gAa	p.G123E	ALG9_ENST00000398006.2_Missense_Mutation_p.G123E|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	294					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)	p.G123E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAGATCAGGTCCATGAGGAGT	0.393																																																1	Substitution - Missense(1)	ovary(1)	11											94	79	84					11																	111724117		1885	4108	5993	111229327	SO:0001583	missense	79796				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.368G>A	11.37:g.111724117C>T	ENSP00000435517:p.Gly123Glu		111229327	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Nonsense_Mutation	SNP	ENST00000531154.1	37	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292508	0.95546	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.63580	-0.05;-0.05	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.991;1.0;0.999	T	0.80659	-0.1284	10	0.56958	D	0.05	-14.7141	20.5407	0.99260	0.0:1.0:0.0:0.0	.	123;294;527;294	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	E	123;123;527	ENSP00000435517:G123E;ENSP00000381090:G123E	ENSP00000381090:G123E	G	-	2	0	ALG9	111229327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.796000	0.85898	2.865000	0.98341	0.655000	0.94253	GGA		0.393	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		T	111724117	C	T	111724117	3	4	135	1	0	0	0	0	1	0	0	0	524	855	30	2	1007	2	ALG9	11	111724117	Missense_Mutation	SNP	C	TCGA-13-1489-01A-01W-0549-09	53448949	111724117	23282399	33	7415											
SNX19	399979	genome.wustl.edu	37	11	130785048	130785048	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr11:130785048C>A	ENST00000265909.4	-	1	1356	c.787G>T	c.(787-789)Gta>Tta	p.V263L	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.V263L	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	263	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.V263L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCCACGAGTACAAGGTGGATC	0.552																																																1	Substitution - Missense(1)	ovary(1)	11											82	85	84					11																	130785048		2201	4297	6498	130290258	SO:0001583	missense	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.787G>T	11.37:g.130785048C>A	ENSP00000265909:p.Val263Leu		130290258	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.457839	0.01071	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.11385	3.24;2.78	5.58	-6.53	0.01866	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	1.189490	0.05759	N	0.604638	T	0.04588	0.0125	N	0.21142	0.635	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.41928	-0.9481	10	0.02654	T	1	-0.1183	3.5024	0.07677	0.0804:0.2641:0.2425:0.413	.	263;263	E9PKB9;Q92543	.;SNX19_HUMAN	L	263	ENSP00000265909:V263L;ENSP00000435390:V263L	ENSP00000265909:V263L	V	-	1	0	SNX19	130290258	0.002000	0.14202	0.001000	0.08648	0.312000	0.27988	-0.482000	0.06544	-1.347000	0.02208	-0.355000	0.07637	GTA		0.552	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		A	130785048	C	A	130785048	3	1	135	1	0	0	0	0	1	0	0	0	14893	478	17	3	2235	3	SNX19	11	130785048	Missense_Mutation	SNP	C	TCGA-13-1489-01A-01W-0549-09	19060931	130785048	4221468	34	7416											
SLC38A1	81539	genome.wustl.edu	37	12	46594968	46594968	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr12:46594968T>C	ENST00000398637.5	-	13	1610	c.916A>G	c.(916-918)Aaa>Gaa	p.K306E	SLC38A1_ENST00000546893.1_Missense_Mutation_p.K306E|SLC38A1_ENST00000439706.1_Missense_Mutation_p.K306E|SLC38A1_ENST00000549049.1_Missense_Mutation_p.K306E|SLC38A1_ENST00000552197.1_Missense_Mutation_p.K306E|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	306					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.K306E(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ATCTGCATTTTTTTCTGTGAT	0.294																																																1	Substitution - Missense(1)	ovary(1)	12											53	49	50					12																	46594968		1805	4072	5877	44881235	SO:0001583	missense	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.916A>G	12.37:g.46594968T>C	ENSP00000381634:p.Lys306Glu		44881235	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420152	0.83559	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31	5.67	5.67	0.87782	.	0.161948	0.43579	D	0.000552	T	0.08758	0.0217	L	0.49455	1.56	0.37836	D	0.928874	P;P;P	0.47604	0.898;0.486;0.741	P;B;P	0.53035	0.716;0.185;0.507	T	0.02942	-1.1091	10	0.87932	D	0	-14.7293	15.92	0.79556	0.0:0.0:0.0:1.0	.	306;306;306	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	E	306	ENSP00000449607:K306E;ENSP00000398142:K306E;ENSP00000381634:K306E;ENSP00000447853:K306E;ENSP00000449756:K306E	ENSP00000381634:K306E	K	-	1	0	SLC38A1	44881235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.837000	0.62796	2.159000	0.67721	0.455000	0.32223	AAA		0.294	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			C	46594968	T	C	46594968	3	2	135	1	0	0	0	0	1	0	0	0	14604	1850	64	4	567	4	SLC38A1	12	46594968	Missense_Mutation	SNP	T	TCGA-13-1489-01A-01W-0549-09		46594968	87256927	35	7417											
ERBB3	2065	genome.wustl.edu	37	12	56487166	56487166	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr12:56487166G>A	ENST00000267101.3	+	12	1752	c.1312G>A	c.(1312-1314)Gtc>Atc	p.V438I	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V379I|ERBB3_ENST00000553131.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	438					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V438I(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAACTTGAATGTCACATCTCT	0.453																																																1	Substitution - Missense(1)	ovary(1)	12											101	105	104					12																	56487166		2203	4300	6503	54773433	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1312G>A	12.37:g.56487166G>A	ENSP00000267101:p.Val438Ile		54773433	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	5.854	0.341715	0.11069	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.39229	1.09;1.09	5.16	3.14	0.36123	EGF receptor, L domain (1);	0.518768	0.17370	N	0.176711	T	0.12008	0.0292	N	0.00823	-1.155	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.24728	-1.0152	10	0.02654	T	1	.	9.0894	0.36601	0.1623:0.0:0.8377:0.0	.	438;438	B4DGQ7;P21860	.;ERBB3_HUMAN	I	438;379	ENSP00000267101:V438I;ENSP00000408340:V379I	ENSP00000267101:V438I	V	+	1	0	ERBB3	54773433	0.343000	0.24818	0.982000	0.44146	0.997000	0.91878	0.736000	0.26130	0.542000	0.28846	0.655000	0.94253	GTC		0.453	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			A	56487166	G	A	56487166	3	1	135	1	0	0	0	0	1	0	0	0	5208	1377	48	2	1489	2	ERBB3	12	56487166	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	9892198	56487166	77364729	36	7418											
RB1	5925	genome.wustl.edu	37	13	49033967	49033967	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr13:49033967C>A	ENST00000267163.4	+	20	2242	c.2104C>A	c.(2104-2106)Caa>Aaa	p.Q702K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	702	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.Q702*(2)|p.Q702K(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCATTTGGACCAAGTAAGAAA	0.398		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	30	Whole gene deletion(15)|Unknown(12)|Substitution - Nonsense(2)|Substitution - Missense(1)	bone(10)|breast(6)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)|liver(1)	13	GRCh37	CM030513	RB1	M							71	64	67					13																	49033967		2203	4300	6503	47931968	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2104C>A	13.37:g.49033967C>A	ENSP00000267163:p.Gln702Lys		47931968	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002429	0.93227	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.94184	-3.37	5.48	5.48	0.80851	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.97642	0.9227	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98358	1.0547	10	0.87932	D	0	-8.7392	19.3477	0.94372	0.0:1.0:0.0:0.0	.	702	P06400	RB_HUMAN	K	681;702	ENSP00000267163:Q702K	ENSP00000267163:Q702K	Q	+	1	0	RB1	47931968	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.581000	0.87130	0.585000	0.79938	CAA		0.398	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			A	49033967	C	A	49033967	3	1	135	1	0	0	0	0	1	0	0	0	13101	595	21	3	2182	3	RB1	13	49033967	Missense_Mutation	SNP	C	TCGA-13-1489-01A-01W-0549-09		49033967	66135911	37	7419											
PCDH9	5101	genome.wustl.edu	37	13	66879068	66879068	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr13:66879068G>A	ENST00000377865.2	-	4	3567	c.3433C>T	c.(3433-3435)Cct>Tct	p.P1145S	PCDH9_ENST00000544246.1_Missense_Mutation_p.P1145S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P1111S|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.P1111S			Q9HC56	PCDH9_HUMAN	protocadherin 9	1145					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1145S(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGCCAGGAGGCATCCAGCAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	13											113	98	103					13																	66879068		2203	4300	6503	65777069	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3433C>T	13.37:g.66879068G>A	ENSP00000367096:p.Pro1145Ser		65777069	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463547	0.84425	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	D;D;D;D	0.91237	-2.81;-2.81;-2.7;-2.7	6.16	6.16	0.99307	.	0.000000	0.48767	D	0.000168	D	0.92182	0.7521	M	0.66439	2.03	0.53005	D	0.999968	P;P;P	0.47302	0.86;0.893;0.86	B;P;B	0.45881	0.373;0.496;0.373	D	0.92262	0.5818	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1103;1111;1145	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	S	1145;1145;1111;1111	ENSP00000442186:P1145S;ENSP00000367096:P1145S;ENSP00000401699:P1111S;ENSP00000332060:P1111S	ENSP00000332060:P1111S	P	-	1	0	PCDH9	65777069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	CCT		0.507	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		A	66879068	G	A	66879068	3	1	135	1	0	0	0	0	1	0	0	0	11518	1203	42	2	284	2	PCDH9	13	66879068	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	17845101	66879068	48290810	38	7420											
RALGAPA1	253959	genome.wustl.edu	37	14	36008822	36008822	+	3'UTR	SNP	T	T	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr14:36008822T>C	ENST00000389698.3	-	0	6599				RALGAPA1_ENST00000258840.6_3'UTR|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.M2060V	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.M2060V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGAGGAGACATTGGAGAGGCC	0.527																																																1	Substitution - Missense(1)	ovary(1)	14											109	103	105					14																	36008822		2203	4300	6503	35078573	SO:0001624	3_prime_UTR_variant	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.*98A>G	14.37:g.36008822T>C			35078573	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.269065	0.40095	.	.	ENSG00000174373	ENST00000307138;ENST00000554259	D;D	0.96491	-3.29;-4.03	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000013	D	0.90872	0.7132	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	D	0.86331	0.1698	10	0.11794	T	0.64	-13.5443	11.0945	0.48137	0.1381:0.0:0.0:0.8619	.	2060	Q6GYQ0-2	.	V	2060;699	ENSP00000302647:M2060V;ENSP00000451133:M699V	ENSP00000302647:M2060V	M	-	1	0	RALGAPA1	35078573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.758000	0.68776	2.220000	0.72140	0.459000	0.35465	ATG		0.527	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		C	36008822	T	C	36008822	1	2	135	0	1	0	0	0	0	0	0	0	13016	1493	52	4		4	RALGAPA1	14	36008822	3'UTR	SNP	T	TCGA-13-1489-01A-01W-0549-09		36008822	71340718	39	7421											
NID2	22795	genome.wustl.edu	37	14	52534882	52534882	+	Splice_Site	SNP	C	C	G			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr14:52534882C>G	ENST00000216286.5	-	2	228		c.e2-1		NID2_ENST00000541773.1_Splice_Site	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)						basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.?(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGTGCCCACCTGGGAGAGGA	0.572																																																1	Unknown(1)	ovary(1)	14											41	52	48					14																	52534882		2203	4299	6502	51604632	SO:0001630	splice_region_variant	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.229-1G>C	14.37:g.52534882C>G			51604632	A8K6I7|B4DU19|O43710	Splice_Site	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412620	0.83340	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8528	0.92240	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NID2	51604632	1.000000	0.71417	0.996000	0.52242	0.877000	0.50540	7.268000	0.78473	2.447000	0.82792	0.563000	0.77884	.		0.572	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		Intron	G	52534882	C	G	52534882	5	3	135	1	0	0	0	0	0	0	1	0	10415	695	24	3	3983	3	NID2	14	52534882	Splice_Site	SNP	C	TCGA-13-1489-01A-01W-0549-09	16526060	52534882	54814658	40	7422											
PDIA3	2923	genome.wustl.edu	37	15	44058127	44058127	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr15:44058127G>T	ENST00000300289.5	+	7	910	c.762G>T	c.(760-762)ttG>ttT	p.L254F	PDIA3_ENST00000538521.1_Missense_Mutation_p.L234F	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	254					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.L254F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ATAAAGATTTGATACAGGGCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	15											109	109	109					15																	44058127		2198	4295	6493	41845419	SO:0001583	missense	2923				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.762G>T	15.37:g.44058127G>T	ENSP00000300289:p.Leu254Phe		41845419	Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768387	0.49680	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.31247	1.5;1.5	5.74	3.55	0.40652	Thioredoxin-like fold (1);	0.124780	0.53938	D	0.000050	T	0.23846	0.0577	L	0.31207	0.915	0.49798	D	0.99982	B;B	0.19935	0.004;0.04	B;B	0.16722	0.007;0.016	T	0.07731	-1.0757	10	0.54805	T	0.06	.	13.474	0.61297	0.148:0.0:0.852:0.0	.	234;254	G5EA52;P30101	.;PDIA3_HUMAN	F	254;229;28;234	ENSP00000300289:L254F;ENSP00000438260:L234F	ENSP00000300289:L254F	L	+	3	2	PDIA3	41845419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.028000	0.57246	1.438000	0.47492	0.563000	0.77884	TTG		0.348	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		T	44058127	G	T	44058127	3	4	135	1	0	0	0	0	1	0	0	0	11669	1281	45	3	788	3	PDIA3	15	44058127	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09		44058127	58473265	41	7423											
VWA3A	146177	genome.wustl.edu	37	16	22144237	22144237	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr16:22144237A>G	ENST00000389398.5	+	20	1985	c.1889A>G	c.(1888-1890)tAc>tGc	p.Y630C	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	630	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTCAGTGCCTACATGGCTGAG	0.637																																																0			16											39	42	41					16																	22144237		2062	4203	6265	22051738	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1889A>G	16.37:g.22144237A>G	ENSP00000374049:p.Tyr630Cys		22051738	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263097	0.59431	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.08634	3.07	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.28134	0.0694	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.01178	-1.1427	10	0.66056	D	0.02	.	14.146	0.65351	1.0:0.0:0.0:0.0	.	630;254	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	C	630;253	ENSP00000374049:Y630C	ENSP00000299840:Y253C	Y	+	2	0	VWA3A	22051738	1.000000	0.71417	0.996000	0.52242	0.543000	0.35085	5.722000	0.68485	2.018000	0.59344	0.528000	0.53228	TAC		0.637	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			G	22144237	A	G	22144237	3	3	135	1	0	0	0	0	1	0	0	0	17240	391	14	4	1967	4	VWA3A	16	22144237	Missense_Mutation	SNP	A	TCGA-13-1489-01A-01W-0549-09		22144237	68210516	42	7424											
CD2BP2	10421	genome.wustl.edu	37	16	30364555	30364555	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr16:30364555C>G	ENST00000305596.3	-	6	1037	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Missense_Mutation_p.E288Q	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	288	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)	p.E288Q(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CCCGTGTTCTCCCACTTATAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	16											150	131	137					16																	30364555		2197	4300	6497	30272056	SO:0001583	missense	10421			AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 59"	604470	"CD2 antigen (cytoplasmic tail)-binding protein 2"			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.862G>C	16.37:g.30364555C>G	ENSP00000304903:p.Glu288Gln		30272056	B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.977071	0.74360	.	.	ENSG00000169217	ENST00000305596	T	0.30981	1.51	5.14	4.14	0.48551	GYF (4);	0.201635	0.47093	D	0.000253	T	0.36054	0.0953	L	0.42245	1.32	0.58432	D	0.999992	D	0.53619	0.961	P	0.53450	0.726	T	0.03193	-1.1062	10	0.15952	T	0.53	11.9704	14.5553	0.68097	0.0:0.8531:0.1469:0.0	.	288	O95400	CD2B2_HUMAN	Q	288	ENSP00000304903:E288Q	ENSP00000304903:E288Q	E	-	1	0	CD2BP2	30272056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.634000	0.54302	2.370000	0.80446	0.655000	0.94253	GAG		0.562	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		G	30364555	C	G	30364555	3	3	135	1	0	0	0	0	1	0	0	0	2995	864	30	3	171	3	CD2BP2	16	30364555	Missense_Mutation	SNP	C	TCGA-13-1489-01A-01W-0549-09	8220318	30364555	59990198	43	7425											
KARS	3735	genome.wustl.edu	37	16	75663370	75663370	+	Silent	SNP	C	C	T	rs374568114		TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr16:75663370C>T	ENST00000302445.3	-	12	1533	c.1494G>A	c.(1492-1494)gcG>gcA	p.A498A	KARS_ENST00000319410.5_Silent_p.A526A|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	498					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.A498A(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GCTCAGTATACGCATTGCATA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	16						G	,	0,4396		0,0,2198	180	179	179		1578,1494	3.8	1	16		179	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	KARS	NM_001130089.1,NM_005548.2	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	526/626,498/598	75663370	1,12995	2198	4300	6498	74220871	SO:0001819	synonymous_variant	3735			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1494G>A	16.37:g.75663370C>T			74220871	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	37	CCDS10923.1																																																																																				0.517	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		T	75663370	C	T	75663370	2	4	135	1	0	0	0	0	0	0	0	1	7980	523	19	1		1	KARS	16	75663370	Silent	SNP	C	TCGA-13-1489-01A-01W-0549-09	45298815	75663370	14691383	44	7426											
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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"	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	17	GRCh37	CM004908	TP53	M							62	48	53					17																	7574003		2203	4300	6503	7514728	SO:0001587	stop_gained	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		7514728	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7574003	G	A	7574003	4	1	135	1	0	0	0	0	0	1	0	0	16381	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09		7574003	73621207	45	7427											
BRCA1	672	genome.wustl.edu	37	17	41243753	41243754	+	Frame_Shift_Ins	INS	-	-	TT	rs80357767		TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	-	-	-	TT	-	-	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA;Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr17:41243753_41243754insTT	ENST00000357654.3	-	10	3912_3913	c.3794_3795insAA	c.(3793-3795)aatfs	p.N1265fs	BRCA1_ENST00000471181.2_Frame_Shift_Ins_p.N1265fs|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000309486.4_Frame_Shift_Ins_p.N969fs|BRCA1_ENST00000354071.3_Frame_Shift_Ins_p.N1265fs|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Ins_p.N1218fs|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Ins_p.N1265fs|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1265					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N1265fs*4(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATTTAAGCTATTCTTCAATGA	0.391			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Insertion - Frameshift(1)	ovary(1)	17	GRCh37	CD961841	BRCA1	D	rs80357767																																			38497280	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3793_3794dupAA	17.37:g.41243754_41243755dupTT	ENSP00000350283:p.Asn1265fs		38497279	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Ins	INS	ENST00000357654.3	37	CCDS11453.1																																																																																				0.391	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		TT	41243754	-	TT	41243753	7	5	135	1	0	1	1	0	0	0	0	0	1498	446	16	0	1922	0	BRCA1	17	41243753	Frame_Shift_Ins	INS	-	TCGA-13-1489-01A-01W-0549-09	33669750	41243753	39951457	46	7428											
WDR45L	56270	genome.wustl.edu	37	17	80574440	80574440	+	Silent	SNP	C	C	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr17:80574440C>A	ENST00000392325.4	-	9	1082	c.888G>T	c.(886-888)ccG>ccT	p.P296P	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	296								p.P296P(1)									CACAAATGCACGGAGAGCCTG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	17											126	124	124					17																	80574440		2203	4300	6503	78167729	SO:0001819	synonymous_variant	56270			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.888G>T	17.37:g.80574440C>A			78167729	O95328|Q2MCP6|Q6IBN2	Silent	SNP	ENST00000392325.4	37	CCDS11815.2																																																																																				0.527	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		A	80574440	C	A	80574440	2	1	135	1	0	0	0	0	0	0	0	1	17298	523	19	3		3	WDR45L	17	80574440	Silent	SNP	C	TCGA-13-1489-01A-01W-0549-09	39330687	80574440	620770	47	7429											
HAUS1	115106	genome.wustl.edu	37	18	43708080	43708080	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr18:43708080A>T	ENST00000282058.6	+	9	906	c.826A>T	c.(826-828)Atg>Ttg	p.M276L	HAUS1_ENST00000585518.1_3'UTR|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	276					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.M276L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGTAGACATGATGGAACTGTG	0.338																																					NSCLC(79;183 1423 5813 15597 38427)											1	Substitution - Missense(1)	ovary(1)	18											102	87	92					18																	43708080		2203	4298	6501	41962078	SO:0001583	missense	115106			AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"HAUS augmin-like complex subunits"	25174	protein-coding gene	gene with protein product		608775	"coiled-coil domain containing 5 (spindle associated)"	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.826A>T	18.37:g.43708080A>T	ENSP00000282058:p.Met276Leu		41962078	B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.968460	0.34754	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.06	5.06	0.68205	.	0.295393	0.41294	D	0.000912	T	0.55114	0.1900	L	0.51422	1.61	0.43835	D	0.996419	B	0.13594	0.008	B	0.10450	0.005	T	0.53222	-0.8469	9	0.39692	T	0.17	-34.9525	11.4884	0.50367	1.0:0.0:0.0:0.0	.	276	Q96CS2	HAUS1_HUMAN	L	276	.	ENSP00000282058:M276L	M	+	1	0	HAUS1	41962078	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	3.399000	0.52586	2.026000	0.59711	0.477000	0.44152	ATG		0.338	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		T	43708080	A	T	43708080	3	4	135	1	0	0	0	0	1	0	0	0	6965	333	12	5	860	5	HAUS1	18	43708080	Missense_Mutation	SNP	A	TCGA-13-1489-01A-01W-0549-09		43708080	34369168	48	7430											
ZNF101	94039	genome.wustl.edu	37	19	19790934	19790934	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr19:19790934G>T	ENST00000592502.1	+	4	1246	c.1136G>T	c.(1135-1137)aGt>aTt	p.S379I	ZNF101_ENST00000415784.2_Missense_Mutation_p.S259I			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S379I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GGGTGGTGCAGTTCCCTCCGA	0.378																																																1	Substitution - Missense(1)	ovary(1)	19											83	80	81					19																	19790934		2203	4300	6503	19651934	SO:0001583	missense	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.1136G>T	19.37:g.19790934G>T	ENSP00000468049:p.Ser379Ile		19651934	C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686701	0.14973	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.32023	1.47;1.47	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32285	0.0824	M	0.88704	2.975	0.09310	N	1	P	0.34724	0.465	B	0.23852	0.049	T	0.25187	-1.0139	8	.	.	.	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	379	Q8IZC7	ZN101_HUMAN	I	379;379;259	ENSP00000319716:S379I;ENSP00000400952:S259I	.	S	+	2	0	ZNF101	19651934	0.000000	0.05858	0.021000	0.16686	0.021000	0.10359	-1.147000	0.03188	0.308000	0.22923	0.313000	0.20887	AGT		0.378	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		T	19790934	G	T	19790934	3	4	135	1	0	0	0	0	1	0	0	0	17714	1029	36	3	1150	3	ZNF101	19	19790934	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09		19790934	39338049	49	7431											
HAO1	54363	genome.wustl.edu	37	20	7921060	7921060	+	Missense_Mutation	SNP	G	G	A	rs148371109		TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr20:7921060G>A	ENST00000378789.3	-	1	61	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	4	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.R4W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAAATTAGCCGGGGGAGCATT	0.348																																																1	Substitution - Missense(1)	ovary(1)	20						G	TRP/ARG	0,4406		0,0,2203	76	81	79		10	4.3	0.1	20	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	HAO1	NM_017545.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4/371	7921060	1,13005	2203	4300	6503	7869060	SO:0001583	missense	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.10C>T	20.37:g.7921060G>A	ENSP00000368066:p.Arg4Trp		7869060	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919789	0.73098	0.0	1.16E-4	ENSG00000101323	ENST00000378789	T	0.32023	1.47	5.4	4.34	0.51931	.	0.340357	0.33834	N	0.004513	T	0.28366	0.0701	L	0.37697	1.125	0.09310	N	0.999997	D;D	0.60160	0.987;0.987	P;P	0.46825	0.528;0.528	T	0.16630	-1.0396	10	0.72032	D	0.01	8.9612	10.4096	0.44285	0.0:0.0:0.6848:0.3152	.	4;4	A8K058;Q9UJM8	.;HAOX1_HUMAN	W	4	ENSP00000368066:R4W	ENSP00000368066:R4W	R	-	1	2	HAO1	7869060	0.999000	0.42202	0.092000	0.20876	0.608000	0.37181	3.663000	0.54518	2.685000	0.91497	0.561000	0.74099	CGG		0.348	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			A	7921060	G	A	7921060	3	1	135	1	0	0	0	0	1	0	0	0	6951	1115	39	1	1134	1	HAO1	20	7921060	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09		7921060	55104460	50	7432											
DLGAP4	22839	genome.wustl.edu	37	20	35060447	35060447	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr20:35060447G>C	ENST00000373907.2	+	2	526	c.327G>C	c.(325-327)gaG>gaC	p.E109D	DLGAP4_ENST00000339266.5_Missense_Mutation_p.E109D|DLGAP4_ENST00000373913.3_Missense_Mutation_p.E109D|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E109D			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	109					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.E109D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCAGTTTGAGAAGCAGCTGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	20											77	77	77					20																	35060447		2203	4300	6503	34493861	SO:0001583	missense	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.327G>C	20.37:g.35060447G>C	ENSP00000363014:p.Glu109Asp		34493861	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37		.	.	.	.	.	.	.	.	.	.	G	13.64	2.297803	0.40694	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.53	3.57	0.40892	.	0.100236	0.64402	N	0.000002	T	0.19565	0.0470	L	0.59967	1.855	0.50813	D	0.999893	P	0.42078	0.77	B	0.36959	0.237	T	0.01894	-1.1252	10	0.42905	T	0.14	.	9.767	0.40567	0.0727:0.0:0.7872:0.1401	.	109	Q9Y2H0-1	.	D	109	ENSP00000363023:E109D;ENSP00000384954:E109D;ENSP00000363014:E109D;ENSP00000341633:E109D	ENSP00000341633:E109D	E	+	3	2	DLGAP4	34493861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.067000	0.57527	0.683000	0.31428	0.561000	0.74099	GAG		0.647	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		C	35060447	G	C	35060447	3	2	135	1	0	0	0	0	1	0	0	0	4562	933	33	3	329	3	DLGAP4	20	35060447	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	27139387	35060447	27965073	51	7433											
CBY1	25776	genome.wustl.edu	37	22	39064131	39064131	+	Silent	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr22:39064131G>A	ENST00000216029.3	+	2	206	c.72G>A	c.(70-72)ctG>ctA	p.L24L	RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	24					cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)	p.L24L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					TCTCCAACCTGCATTCTGTGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	22											90	87	88					22																	39064131		2203	4300	6503	37394077	SO:0001819	synonymous_variant	25776			BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"chibby CTNNB1-mediated transcription inhibitor"	607757	"chromosome 22 open reading frame 2", "PKD2 interactor, golgi and endoplasmic reticulum associated 1"	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.72G>A	22.37:g.39064131G>A			37394077	B2R4S2|Q66GT6|Q9UIK9	Silent	SNP	ENST00000216029.3	37	CCDS13974.1																																																																																				0.542	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	NM_015373		A	39064131	G	A	39064131	2	1	135	1	0	0	0	0	0	0	0	1	2725	1306	46	2		2	CBY1	22	39064131	Silent	SNP	G	TCGA-13-1489-01A-01W-0549-09		39064131	12240435	52	7434											
MCAT	27349	genome.wustl.edu	37	22	43533166	43533166	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chr22:43533166G>T	ENST00000290429.6	-	3	695	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	MCAT_ENST00000327555.5_Intron	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	217					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)	p.S217Y(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TATGCCTAAAGACTTGCAGTG	0.532											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	22											187	174	178					22																	43533166		2203	4300	6503	41863110	SO:0001583	missense	27349			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.650C>A	22.37:g.43533166G>T	ENSP00000290429:p.Ser217Tyr	917	41863110	B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207714	0.58343	.	.	ENSG00000100294	ENST00000290429	T	0.43688	0.94	5.13	5.13	0.70059	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.379885	0.29328	N	0.012463	T	0.63474	0.2514	M	0.79926	2.475	0.26730	N	0.970606	D	0.58970	0.984	P	0.56788	0.806	T	0.62364	-0.6870	10	0.72032	D	0.01	-28.5044	18.5829	0.91178	0.0:0.0:1.0:0.0	.	217	Q8IVS2	FABD_HUMAN	Y	217	ENSP00000290429:S217Y	ENSP00000290429:S217Y	S	-	2	0	MCAT	41863110	0.790000	0.28787	0.310000	0.25168	0.573000	0.36030	4.567000	0.60850	2.387000	0.81309	0.591000	0.81541	TCT		0.532	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		T	43533166	G	T	43533166	3	4	135	1	0	0	0	0	1	0	0	0	9372	942	33	3	530	3	MCAT	22	43533166	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	4469035	43533166	7771400	53	7435											
ATXN3L	92552	genome.wustl.edu	37	X	13337344	13337344	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chrX:13337344C>T	ENST00000380622.2	-	1	1174	c.710G>A	c.(709-711)cGc>cAc	p.R237H	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	237					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.R237H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGTTTCTTGGCGGCTTAGTTC	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											277	251	259					X																	13337344		1568	3582	5150	13247265	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.710G>A	X.37:g.13337344C>T	ENSP00000369996:p.Arg237His		13247265	B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	c	12.53	1.965601	0.34659	.	.	ENSG00000123594	ENST00000380622	T	0.20598	2.06	0.793	-1.59	0.08453	Ubiquitin interacting motif (3);	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	L	0.47190	1.495	0.46725	D	0.999175	D	0.89917	1.0	D	0.76071	0.987	T	0.14254	-1.0479	10	0.72032	D	0.01	.	3.0549	0.06181	0.2508:0.5416:0.0:0.2076	.	237	Q9H3M9	ATX3L_HUMAN	H	237	ENSP00000369996:R237H	ENSP00000369996:R237H	R	-	2	0	ATXN3L	13247265	0.832000	0.29368	0.001000	0.08648	0.004000	0.04260	0.425000	0.21346	-0.985000	0.03503	-0.592000	0.04112	CGC		0.423	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		T	13337344	C	T	13337344	3	4	135	1	0	0	0	0	1	0	0	0	1214	768	27	1	361	1	ATXN3L	23	13337344	Missense_Mutation	SNP	C	TCGA-13-1489-01A-01W-0549-09		13337344	141933216	54	7436											
BTK	695	genome.wustl.edu	37	X	100608315	100608315	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1489-01A-01W-0549-09	TCGA-13-1489-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	395c1d93-7216-4c9d-bfad-26ff95fb8afe	adc2fdad-5ea9-40fc-939c-52b4031226c0	g.chrX:100608315G>A	ENST00000308731.7	-	18	1938	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F	BTK_ENST00000372880.1_Missense_Mutation_p.S416F	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	592	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> P (in XLA). {ECO:0000269|PubMed:8834236}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.S592F(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTCCCCAGGGAGTAAATTTC	0.438									Agammaglobulinemia, X-linked																																							1	Substitution - Missense(1)	ovary(1)	X	GRCh37	CM003419	BTK	M							177	166	170					X																	100608315		2203	4300	6503	100494971	SO:0001583	missense	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1775C>T	X.37:g.100608315G>A	ENSP00000308176:p.Ser592Phe		100494971	B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590593	0.86851	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000308731	T;D	0.89746	-0.47;-2.56	5.6	5.6	0.85130	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.052458	0.85682	D	0.000000	D	0.95714	0.8606	M	0.91459	3.21	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.87578	0.968;0.994;0.998;0.973	D	0.96573	0.9424	10	0.87932	D	0	.	17.021	0.86433	0.0:0.0:1.0:0.0	.	416;263;167;592	Q5JY90;Q3MS96;Q572P5;Q06187	.;.;.;BTK_HUMAN	F	416;141;72;167;592	ENSP00000361971:S416F;ENSP00000308176:S592F	ENSP00000308176:S592F	S	-	2	0	BTK	100494971	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.333000	0.79357	0.600000	0.82982	TCC		0.438	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		A	100608315	G	A	100608315	3	1	135	1	0	0	0	0	1	0	0	0	1557	1174	41	2	212	2	BTK	23	100608315	Missense_Mutation	SNP	G	TCGA-13-1489-01A-01W-0549-09	87270971	100608315	54662245	55	7437											
GBP2	2634	genome.wustl.edu	37	1	89585952	89585952	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr1:89585952G>A	ENST00000370466.3	-	4	606	c.338C>T	c.(337-339)tCc>tTc	p.S113F	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	113	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S113F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		AAAGATCCAGGAGTCATTCTC	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											195	178	184					1																	89585952		2203	4300	6503	89358540	SO:0001583	missense	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.338C>T	1.37:g.89585952G>A	ENSP00000359497:p.Ser113Phe		89358540	Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	CCDS719.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477493	0.44044	.	.	ENSG00000162645	ENST00000370466	T	0.75477	-0.94	3.45	2.48	0.30137	Guanylate-binding protein, N-terminal (1);	0.295679	0.23881	U	0.043643	D	0.82669	0.5087	M	0.92077	3.27	0.24021	N	0.996143	D	0.65815	0.995	D	0.71184	0.972	T	0.75235	-0.3389	10	0.72032	D	0.01	-5.8833	10.2696	0.43475	0.0:0.2142:0.7858:0.0	.	113	P32456	GBP2_HUMAN	F	113	ENSP00000359497:S113F	ENSP00000359497:S113F	S	-	2	0	GBP2	89358540	0.045000	0.20229	1.000000	0.80357	0.695000	0.40330	0.827000	0.27421	0.726000	0.32339	0.644000	0.83932	TCC		0.453	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		A	89585952	G	A	89585952	3	1	136	1	0	0	0	0	1	0	0	0	6274	1174	41	2	1469	2	GBP2	1	89585952	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09		89585952	159664669	1	7438											
CRNN	49860	genome.wustl.edu	37	1	152383392	152383392	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr1:152383392C>T	ENST00000271835.3	-	3	228	c.166G>A	c.(166-168)Gag>Aag	p.E56K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	56	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.E56K(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCAGGACCTCATCCACAGTT	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											39	40	40					1																	152383392		2185	4275	6460	150650016	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.166G>A	1.37:g.152383392C>T	ENSP00000271835:p.Glu56Lys		150650016	B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476249	0.26511	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.13196	2.61	4.73	2.73	0.32206	EF-hand-like domain (1);	0.298666	0.23803	N	0.044401	T	0.02610	0.0079	N	0.20401	0.57	0.31320	N	0.686174	B	0.34200	0.441	B	0.28638	0.092	T	0.44467	-0.9326	10	0.23891	T	0.37	.	11.2329	0.48923	0.0:0.6444:0.3556:0.0	.	56	Q9UBG3	CRNN_HUMAN	K	56	ENSP00000271835:E56K	ENSP00000271835:E56K	E	-	1	0	CRNN	150650016	0.834000	0.29399	0.998000	0.56505	0.103000	0.19146	0.322000	0.19576	1.180000	0.42898	0.305000	0.20034	GAG		0.532	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		T	152383392	C	T	152383392	3	4	136	1	0	0	0	0	1	0	0	0	3892	835	29	2	1325	2	CRNN	1	152383392	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09	62797440	152383392	96867229	2	7439											
IFI16	3428	genome.wustl.edu	37	1	159023472	159023472	+	Silent	SNP	G	G	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr1:159023472G>A	ENST00000295809.7	+	11	2490	c.2235G>A	c.(2233-2235)ggG>ggA	p.G745G	IFI16_ENST00000368132.3_Silent_p.G689G|IFI16_ENST00000448393.2_Silent_p.G633G|IFI16_ENST00000359709.3_Silent_p.G689G|IFI16_ENST00000340979.6_Silent_p.G633G|IFI16_ENST00000430894.2_Silent_p.G693G|IFI16_ENST00000368131.4_Silent_p.G689G			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	745	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.G689G(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CGAAAAGTGGGAATACCGGGG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	1											135	131	133					1																	159023472		2203	4300	6503	157290096	SO:0001819	synonymous_variant	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.2235G>A	1.37:g.159023472G>A			157290096	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37		.	.	.	.	.	.	.	.	.	.	G	3.063	-0.192754	0.06259	.	.	ENSG00000163565	ENST00000448393	.	.	.	4.83	-6.51	0.01878	.	.	.	.	.	T	0.03095	0.0091	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31558	-0.9939	5	0.10636	T	0.68	.	2.2821	0.04117	0.3449:0.3032:0.2512:0.1008	.	.	.	.	E	454	.	ENSP00000404325:G454E	G	+	2	0	IFI16	157290096	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.437000	0.02419	-1.717000	0.01385	-2.139000	0.00339	GGA		0.418	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		A	159023472	G	A	159023472	2	1	136	1	0	0	0	0	0	0	0	1	7511	1161	41	2		2	IFI16	1	159023472	Silent	SNP	G	TCGA-13-1491-01A-01W-0549-09	6640080	159023472	90227149	3	7440											
MPZL1	9019	genome.wustl.edu	37	1	167734930	167734930	+	Missense_Mutation	SNP	G	G	A	rs146968580		TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr1:167734930G>A	ENST00000359523.2	+	2	404	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	MPZL1_ENST00000474859.1_Missense_Mutation_p.G68R|MPZL1_ENST00000392121.3_Missense_Mutation_p.G68R	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	68	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)	p.G68R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TACGACTGGCGGGTTGACCTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	1						G	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	64	60	62		202,202,202	-1.5	0	1	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MPZL1	NM_001146191.1,NM_003953.5,NM_024569.4	125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	68/120,68/270,68/210	167734930	1,13005	2203	4300	6503	166001554	SO:0001583	missense	9019			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.202G>A	1.37:g.167734930G>A	ENSP00000352513:p.Gly68Arg		166001554	B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	G	2.232	-0.375936	0.05034	0.0	1.16E-4	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;D;T;T	0.94576	-0.14;-3.46;-0.14;-0.14	4.79	-1.53	0.08611	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.624596	0.16673	N	0.204264	T	0.67970	0.2950	N	0.08118	0	0.25095	N	0.990826	B;B;B	0.11235	0.003;0.0;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.52525	-0.8564	9	0.17832	T	0.49	.	3.6584	0.08229	0.6381:0.1291:0.0993:0.1336	.	68;68;68	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	R	68;68;68;42	ENSP00000352513:G68R;ENSP00000375968:G68R;ENSP00000420455:G68R;ENSP00000356827:G42R	ENSP00000352513:G68R	G	+	1	0	MPZL1	166001554	0.386000	0.25180	0.000000	0.03702	0.319000	0.28217	0.927000	0.28818	-0.340000	0.08388	-0.137000	0.14449	GGG		0.507	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		A	167734930	G	A	167734930	3	1	136	1	0	0	0	0	1	0	0	0	9749	1116	39	1	208	1	MPZL1	1	167734930	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09	8711458	167734930	81515691	4	7441											
RNASEL	6041	genome.wustl.edu	37	1	182544694	182544694	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr1:182544694C>T	ENST00000367559.3	-	7	2312	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	RNASEL_ENST00000444138.1_Missense_Mutation_p.D687N	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	687	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.D687N(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AGGGAAGGGTCTCCAATTTTT	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											81	78	79					1																	182544694		2203	4300	6503	180811317	SO:0001583	missense	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2059G>A	1.37:g.182544694C>T	ENSP00000356530:p.Asp687Asn		180811317	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943203	0.73672	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.30714	1.52;1.52	5.11	4.2	0.49525	PUG domain (1);KEN domain, ribonuclease activator (2);	0.654660	0.14485	N	0.316728	T	0.45135	0.1327	L	0.56769	1.78	0.80722	D	1	D	0.54772	0.968	P	0.56960	0.81	T	0.35919	-0.9769	10	0.66056	D	0.02	-7.2216	10.9806	0.47492	0.0:0.9121:0.0:0.0879	.	687	Q05823	RN5A_HUMAN	N	687	ENSP00000356530:D687N;ENSP00000411147:D687N	ENSP00000356530:D687N	D	-	1	0	RNASEL	180811317	0.770000	0.28543	0.581000	0.28614	0.046000	0.14306	1.683000	0.37638	1.287000	0.44583	0.655000	0.94253	GAC		0.398	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		T	182544694	C	T	182544694	3	4	136	1	0	0	0	0	1	0	0	0	13419	913	32	2	170	2	RNASEL	1	182544694	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09	14809764	182544694	66705927	5	7442											
EHBP1	23301	genome.wustl.edu	37	2	63101664	63101664	+	Silent	SNP	T	T	C			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr2:63101664T>C	ENST00000263991.5	+	11	1769	c.1287T>C	c.(1285-1287)ccT>ccC	p.P429P	EHBP1_ENST00000431489.1_Silent_p.P394P|EHBP1_ENST00000405015.3_Silent_p.P394P|EHBP1_ENST00000354487.3_Silent_p.P394P|EHBP1_ENST00000405289.1_Silent_p.P394P	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	429						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.P429P(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CTACTTCTCCTAAGGTAGGAT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	2											76	87	83					2																	63101664		2203	4300	6503	62955168	SO:0001819	synonymous_variant	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1287T>C	2.37:g.63101664T>C			62955168	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	CCDS1872.1																																																																																				0.348	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		C	63101664	T	C	63101664	2	2	136	1	0	0	0	0	0	0	0	1	4975	1509	53	4		4	EHBP1	2	63101664	Silent	SNP	T	TCGA-13-1491-01A-01W-0549-09		63101664	180097709	6	7443											
CTNNB1	1499	genome.wustl.edu	37	3	41266887	41266887	+	Silent	SNP	C	C	T	rs373990577		TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr3:41266887C>T	ENST00000349496.5	+	5	838	c.558C>T	c.(556-558)caC>caT	p.H186H	CTNNB1_ENST00000453024.1_Silent_p.H179H|CTNNB1_ENST00000396185.3_Silent_p.H186H|CTNNB1_ENST00000405570.1_Silent_p.H186H|CTNNB1_ENST00000396183.3_Silent_p.H186H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	186					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H186H(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTTCCAGACACGCTATCATGC	0.428		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	1	Substitution - coding silent(1)	ovary(1)	3											76	75	75					3																	41266887		2203	4300	6503	41241891	SO:0001819	synonymous_variant	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.558C>T	3.37:g.41266887C>T			41241891	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	CCDS2694.1																																																																																				0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		T	41266887	C	T	41266887	2	4	136	1	0	0	0	0	0	0	0	1	4016	535	19	1		1	CTNNB1	3	41266887	Silent	SNP	C	TCGA-13-1491-01A-01W-0549-09		41266887	156755543	7	7444											
RASSF1	11186	genome.wustl.edu	37	3	50368842	50368842	+	Missense_Mutation	SNP	G	G	A	rs140805123		TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr3:50368842G>A	ENST00000357043.2	-	5	846	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	RASSF1_ENST00000359365.4_Missense_Mutation_p.R267W|RASSF1_ENST00000395126.3_Missense_Mutation_p.R116W|RASSF1_ENST00000327761.3_Missense_Mutation_p.R197W					Ras association (RalGDS/AF-6) domain family member 1									p.R271W(1)		lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGCAGCCGCAGGGGCTGC	0.562																																																1	Substitution - Missense(1)	ovary(1)	3						G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	33	36	35		346,799,346,589,811	3.6	0.4	3	dbSNP_134	35	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	RASSF1	NM_001206957.1,NM_007182.4,NM_170712.2,NM_170713.2,NM_170714.1	101,101,101,101,101	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	116/190,267/341,116/190,197/271,271/345	50368842	4,13002	2203	4300	6503	50343846	SO:0001583	missense	11186			AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.811C>T	3.37:g.50368842G>A	ENSP00000349547:p.Arg271Trp		50343846		Missense_Mutation	SNP	ENST00000357043.2	37	CCDS2820.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855563	0.51376	4.54E-4	2.33E-4	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.55	3.56	0.40772	Ras-association (3);	0.438837	0.24774	N	0.035702	T	0.20577	0.0495	N	0.19112	0.55	0.33979	D	0.647709	B;D;B	0.64830	0.015;0.994;0.002	B;P;B	0.56788	0.014;0.806;0.014	T	0.20075	-1.0286	10	0.41790	T	0.15	-9.4422	12.8277	0.57728	0.0:0.0:0.4859:0.5141	.	267;271;197	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	W	197;116;271;267	ENSP00000333327:R197W;ENSP00000378558:R116W;ENSP00000349547:R271W;ENSP00000352323:R267W	ENSP00000333327:R197W	R	-	1	2	RASSF1	50343846	0.827000	0.29292	0.370000	0.25965	0.940000	0.58332	1.347000	0.33975	0.519000	0.28406	0.563000	0.77884	CGG		0.562	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314304.1			A	50368842	G	A	50368842	3	1	136	1	0	0	0	0	1	0	0	0	13087	1086	38	1	231	1	RASSF1	3	50368842	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09	9101955	50368842	147653588	8	7445											
ROBO1	6091	genome.wustl.edu	37	3	78685111	78685111	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr3:78685111C>T	ENST00000464233.1	-	23	3298	c.3185G>A	c.(3184-3186)cGt>cAt	p.R1062H	ROBO1_ENST00000436010.2_Missense_Mutation_p.R1023H|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1062					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.R1039H(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTGACAAAACGCCCATCCTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											155	159	157					3																	78685111		2107	4225	6332	78767801	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3185G>A	3.37:g.78685111C>T	ENSP00000420321:p.Arg1062His		78767801	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437230	0.83885	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.62105	0.08;0.05;0.12	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;P;D;D	0.80764	0.994;0.731;0.926;0.921	T	0.69720	-0.5069	9	.	.	.	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	1026;1062;1017;1023	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	H	1023;1017;1062;1017;1066	ENSP00000406043:R1023H;ENSP00000420321:R1062H;ENSP00000420637:R1017H	.	R	-	2	0	ROBO1	78767801	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.291000	0.78721	2.866000	0.98385	0.650000	0.86243	CGT		0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		T	78685111	C	T	78685111	3	4	136	1	0	0	0	0	1	0	0	0	13516	536	19	1	1806	1	ROBO1	3	78685111	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09	28316269	78685111	119337319	9	7446											
ADD1	118	genome.wustl.edu	37	4	2916637	2916637	+	Silent	SNP	C	C	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr4:2916637C>T	ENST00000398129.1	+	12	1652	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	ADD1_ENST00000503455.2_Silent_p.A575A|ADD1_ENST00000398125.1_Silent_p.A575A|ADD1_ENST00000355842.3_Silent_p.A575A|ADD1_ENST00000446856.1_Silent_p.A544A|ADD1_ENST00000513328.2_Silent_p.A544A|ADD1_ENST00000264758.7_Silent_p.A575A|ADD1_ENST00000398123.2_Silent_p.A575A			P35611	ADDA_HUMAN	adducin 1 (alpha)	544					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)	p.A575A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCCAAGGCCATCATTGAAA	0.632																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											1	Substitution - coding silent(1)	ovary(1)	4											94	92	93					4																	2916637		2203	4300	6503	2886435	SO:0001819	synonymous_variant	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1632C>T	4.37:g.2916637C>T			2886435	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490290	0.26686	.	.	ENSG00000087274	ENST00000514940	.	.	.	5.56	1.36	0.22044	.	.	.	.	.	T	0.51500	0.1678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37753	-0.9692	4	.	.	.	-26.2112	5.2618	0.15578	0.3476:0.4261:0.0:0.2264	.	.	.	.	L	281	.	.	P	+	2	0	ADD1	2886435	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.015000	0.29963	0.304000	0.22809	-1.357000	0.01221	CCA		0.632	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		T	2916637	C	T	2916637	2	4	136	1	0	0	0	0	0	0	0	1	304	581	21	2		2	ADD1	4	2916637	Silent	SNP	C	TCGA-13-1491-01A-01W-0549-09		2916637	188237639	10	7447											
ANKRD17	26057	genome.wustl.edu	37	4	73956406	73956406	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr4:73956406C>G	ENST00000358602.4	-	29	7055	c.6939G>C	c.(6937-6939)caG>caC	p.Q2313H	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q2062H|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2200H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2313					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q2313H(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCAGGTCTCTGTAATGGTG	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											90	95	93					4																	73956406		2203	4300	6503	74175270	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6939G>C	4.37:g.73956406C>G	ENSP00000351416:p.Gln2313His		74175270	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.194886	0.22037	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.80909	-1.43;-1.43;-0.78	5.98	1.89	0.25635	.	0.000000	0.64402	D	0.000014	D	0.85906	0.5806	L	0.57536	1.79	0.31264	N	0.692522	D;D;D;D	0.64830	0.994;0.994;0.99;0.99	D;D;D;D	0.78314	0.991;0.991;0.979;0.979	D	0.85278	0.1060	10	0.87932	D	0	.	11.872	0.52525	0.0:0.7271:0.0:0.2729	.	2312;2062;2313;2200	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	H	2313;1720;2062;2200;697	ENSP00000351416:Q2313H;ENSP00000332265:Q2062H;ENSP00000427151:Q2200H	ENSP00000332265:Q2062H	Q	-	3	2	ANKRD17	74175270	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.718000	0.25866	0.444000	0.26612	-0.768000	0.03414	CAG		0.383	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		G	73956406	C	G	73956406	3	3	136	1	0	0	0	0	1	0	0	0	646	912	32	3	896	3	ANKRD17	4	73956406	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09	71039769	73956406	117197870	11	7448											
ADCY2	108	genome.wustl.edu	37	5	7712987	7712987	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr5:7712987C>G	ENST00000338316.4	+	11	1686	c.1597C>G	c.(1597-1599)Cat>Gat	p.H533D	ADCY2_ENST00000537121.1_Missense_Mutation_p.H353D|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	533					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.H533D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATGGGTCAGCATAATTTTCA	0.294																																																1	Substitution - Missense(1)	ovary(1)	5											127	123	124					5																	7712987		2203	4300	6503	7765987	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1597C>G	5.37:g.7712987C>G	ENSP00000342952:p.His533Asp		7765987	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014743	0.35511	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.75260	-0.92;-0.92	5.88	5.88	0.94601	.	0.349867	0.30940	N	0.008574	T	0.58892	0.2154	N	0.22421	0.69	0.36741	D	0.88223	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.0	T	0.58896	-0.7555	10	0.33940	T	0.23	.	9.1464	0.36935	0.0:0.8787:0.0:0.1213	.	353;533	B7Z2C1;Q08462	.;ADCY2_HUMAN	D	533;366;353	ENSP00000342952:H533D;ENSP00000444803:H353D	ENSP00000342952:H533D	H	+	1	0	ADCY2	7765987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.057000	0.49931	2.777000	0.95525	0.551000	0.68910	CAT		0.294	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		G	7712987	C	G	7712987	3	3	136	1	0	0	0	0	1	0	0	0	294	710	25	3	1639	3	ADCY2	5	7712987	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09		7712987	173202273	12	7449											
DNAH5	1767	genome.wustl.edu	37	5	13850804	13850804	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr5:13850804G>T	ENST00000265104.4	-	31	5175	c.5071C>A	c.(5071-5073)Cac>Aac	p.H1691N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1691	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H1691N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCAGCAAGTGTGGTAACAGC	0.488									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											79	75	77					5																	13850804		2203	4300	6503	13903804	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5071C>A	5.37:g.13850804G>T	ENSP00000265104:p.His1691Asn		13903804	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697923	0.88830	.	.	ENSG00000039139	ENST00000265104	T	0.60171	0.21	5.49	5.49	0.81192	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.70176	0.3194	M	0.73598	2.24	0.80722	D	1	P	0.47677	0.899	P	0.51297	0.665	T	0.70303	-0.4909	10	0.41790	T	0.15	.	19.3649	0.94458	0.0:0.0:1.0:0.0	.	1691	Q8TE73	DYH5_HUMAN	N	1691	ENSP00000265104:H1691N	ENSP00000265104:H1691N	H	-	1	0	DNAH5	13903804	1.000000	0.71417	0.974000	0.42286	0.862000	0.49288	6.535000	0.73838	2.571000	0.86741	0.591000	0.81541	CAC		0.488	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13850804	G	T	13850804	3	4	136	1	0	0	0	0	1	0	0	0	4604	1377	48	3	8999	3	DNAH5	5	13850804	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09	6137817	13850804	167064456	13	7450											
CDH18	1016	genome.wustl.edu	37	5	19571821	19571821	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr5:19571821C>A	ENST00000507958.1	-	10	2110	c.1120G>T	c.(1120-1122)Gtt>Ttt	p.V374F	CDH18_ENST00000506372.1_Missense_Mutation_p.V374F|CDH18_ENST00000274170.4_Missense_Mutation_p.V374F|CDH18_ENST00000502796.1_Missense_Mutation_p.V374F|CDH18_ENST00000382275.1_Missense_Mutation_p.V374F|CDH18_ENST00000511273.1_Missense_Mutation_p.V374F			Q13634	CAD18_HUMAN	cadherin 18, type 2	374	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V374F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACATCCCCAACAATGATCTTC	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											154	128	137					5																	19571821		2203	4300	6503	19607578	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1120G>T	5.37:g.19571821C>A	ENSP00000425093:p.Val374Phe		19607578	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253088	0.80135	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;0.07;-0.69	5.17	5.17	0.71159	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90553	0.7039	H	0.98594	4.275	0.53688	D	0.999979	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.987	D	0.94099	0.7360	9	.	.	.	.	17.5963	0.88013	0.0:1.0:0.0:0.0	.	374;374	B4DHG6;Q13634	.;CAD18_HUMAN	F	374;374;374;374;374;374;320;374	ENSP00000371710:V374F;ENSP00000425093:V374F;ENSP00000274170:V374F;ENSP00000424931:V374F;ENSP00000422138:V374F;ENSP00000427383:V320F;ENSP00000425854:V374F	.	V	-	1	0	CDH18	19607578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.494000	0.60347	2.591000	0.87537	0.655000	0.94253	GTT		0.423	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19571821	C	A	19571821	3	1	136	1	0	0	0	0	1	0	0	0	3103	478	17	3	1276	3	CDH18	5	19571821	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09	5721017	19571821	161343439	14	7451											
CDH6	1004	genome.wustl.edu	37	5	31323263	31323263	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr5:31323263G>A	ENST00000265071.2	+	12	2486	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	741					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E741K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACGCCTATGAAGGCACTGG	0.527																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	5											45	44	45					5																	31323263		2203	4300	6503	31359020	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2221G>A	5.37:g.31323263G>A	ENSP00000265071:p.Glu741Lys		31359020	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	36	5.747362	0.96882	.	.	ENSG00000113361	ENST00000265071	D	0.87887	-2.31	5.66	5.66	0.87406	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.96488	0.8854	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97411	1.0002	10	0.87932	D	0	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	741	P55285	CADH6_HUMAN	K	741	ENSP00000265071:E741K	ENSP00000265071:E741K	E	+	1	0	CDH6	31359020	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GAA		0.527	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		A	31323263	G	A	31323263	3	1	136	1	0	0	0	0	1	0	0	0	3114	1291	45	2	2263	2	CDH6	5	31323263	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09	11751442	31323263	149591997	15	7452											
RGNEF	64283	genome.wustl.edu	37	5	73069741	73069741	+	Silent	SNP	C	C	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr5:73069741C>T	ENST00000426542.2	+	4	557	c.537C>T	c.(535-537)tcC>tcT	p.S179S	ARHGEF28_ENST00000513042.2_Silent_p.S179S|ARHGEF28_ENST00000287898.5_Silent_p.S179S|ARHGEF28_ENST00000296794.6_Silent_p.S179S|ARHGEF28_ENST00000437974.1_Silent_p.S179S|ARHGEF28_ENST00000545377.1_Silent_p.S179S			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	179					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.S179S(1)									CTAAACTTTCCCAGTTCTTCT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	5											63	57	59					5																	73069741		1853	4087	5940	73105497	SO:0001819	synonymous_variant	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.537C>T	5.37:g.73069741C>T			73105497	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																				0.483	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			T	73069741	C	T	73069741	2	4	136	1	0	0	0	0	0	0	0	1	13286	610	22	2		2	RGNEF	5	73069741	Silent	SNP	C	TCGA-13-1491-01A-01W-0549-09	41746478	73069741	107845519	16	7453											
SLC12A2	6558	genome.wustl.edu	37	5	127486967	127486967	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr5:127486967G>T	ENST00000262461.2	+	14	2331	c.2142G>T	c.(2140-2142)tgG>tgT	p.W714C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.W714C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	714					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.W714C(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ACAACATGTGGATATCACTTC	0.363																																																1	Substitution - Missense(1)	ovary(1)	5											249	236	240					5																	127486967		2203	4300	6503	127514866	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2142G>T	5.37:g.127486967G>T	ENSP00000262461:p.Trp714Cys		127514866	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234449	0.58886	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98835	-5.17;-5.17	4.75	4.75	0.60458	Amino acid permease domain (1);	0.127811	0.56097	D	0.000023	D	0.98960	0.9646	H	0.96604	3.85	0.80722	D	1	B;P	0.34800	0.414;0.469	B;B	0.38954	0.188;0.286	D	0.99943	1.1439	10	0.87932	D	0	.	18.3079	0.90189	0.0:0.0:1.0:0.0	.	714;714	P55011-3;P55011	.;S12A2_HUMAN	C	714	ENSP00000262461:W714C;ENSP00000340878:W714C	ENSP00000262461:W714C	W	+	3	0	SLC12A2	127514866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.655000	0.90218	0.655000	0.94253	TGG		0.363	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		T	127486967	G	T	127486967	3	4	136	1	0	0	0	0	1	0	0	0	14386	1183	41	3	2196	3	SLC12A2	5	127486967	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09	54417226	127486967	53428293	17	7454											
HLA-G	3135	genome.wustl.edu	37	6	29797366	29797366	+	Missense_Mutation	SNP	C	C	T	rs202126599		TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr6:29797366C>T	ENST00000360323.6	+	4	815	c.791C>T	c.(790-792)aCc>aTc	p.T264I	HLA-G_ENST00000376818.3_Missense_Mutation_p.T172I|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.T269I|HLA-G_ENST00000428701.1_Missense_Mutation_p.T264I			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	264	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.T264I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GGGGATGGAACCTTCCAGAAG	0.627																																																1	Substitution - Missense(1)	ovary(1)	6											66	59	61					6																	29797366		2203	4299	6502	29905345	SO:0001583	missense	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.791C>T	6.37:g.29797366C>T	ENSP00000353472:p.Thr264Ile		29905345		Missense_Mutation	SNP	ENST00000360323.6	37	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	9.067	0.995979	0.19043	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	1.7	-0.678	0.11353	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.369118	0.18934	U	0.127122	T	0.15955	0.0384	H	0.99960	5.065	0.20563	N	0.999887	D;B;D	0.89917	0.999;0.033;1.0	D;B;D	0.97110	0.987;0.013;1.0	T	0.08086	-1.0739	10	0.87932	D	0	.	0.7453	0.00981	0.2351:0.361:0.2329:0.171	.	269;172;264	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	I	269;264;264;172	ENSP00000366024:T269I;ENSP00000412927:T264I;ENSP00000353472:T264I;ENSP00000366014:T172I	ENSP00000353472:T264I	T	+	2	0	HLA-G	29905345	0.986000	0.35501	0.270000	0.24601	0.280000	0.26924	0.194000	0.17135	-0.401000	0.07644	0.291000	0.19559	ACC		0.627	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		T	29797366	C	T	29797366	3	4	136	1	0	0	0	0	1	0	0	0	7212	507	18	2	805	2	HLA-G	6	29797366	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09		29797366	141317701	18	7455											
DNAH11	8701	genome.wustl.edu	37	7	21906229	21906229	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr7:21906229A>C	ENST00000409508.3	+	71	11669	c.11638A>C	c.(11638-11640)Aag>Cag	p.K3880Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.K3887Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3887					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K3887Q(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTAATACAGAAGCTGATTCT	0.428									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											79	79	79					7																	21906229		1853	4094	5947	21872754	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11638A>C	7.37:g.21906229A>C	ENSP00000475939:p.Lys3880Gln		21872754	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	22.3	4.269777	0.80469	.	.	ENSG00000105877	ENST00000328843	T	0.11495	2.77	5.81	5.81	0.92471	Dynein heavy chain (1);	0.086087	0.85682	D	0.000000	T	0.33614	0.0869	.	.	.	0.54753	D	0.999988	D	0.76494	0.999	D	0.71870	0.975	T	0.03576	-1.1023	9	0.59425	D	0.04	.	15.8235	0.78678	1.0:0.0:0.0:0.0	.	3887	Q96DT5	DYH11_HUMAN	Q	3887	ENSP00000330671:K3887Q	ENSP00000330671:K3887Q	K	+	1	0	DNAH11	21872754	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.307000	0.96226	2.224000	0.72417	0.533000	0.62120	AAG		0.428	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		C	21906229	A	C	21906229	3	2	136	1	0	0	0	0	1	0	0	0	4599	247	9	5	11942	5	DNAH11	7	21906229	Missense_Mutation	SNP	A	TCGA-13-1491-01A-01W-0549-09		21906229	137232434	19	7456											
DYNC1I1	1780	genome.wustl.edu	37	7	95442612	95442612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr7:95442612G>T	ENST00000324972.6	+	4	521	c.328G>T	c.(328-330)Gga>Tga	p.G110*	DYNC1I1_ENST00000413338.1_Nonsense_Mutation_p.G93*|DYNC1I1_ENST00000537881.1_Nonsense_Mutation_p.G93*|DYNC1I1_ENST00000359388.4_Nonsense_Mutation_p.G93*|DYNC1I1_ENST00000457059.1_Nonsense_Mutation_p.G93*|DYNC1I1_ENST00000447467.2_Nonsense_Mutation_p.G93*|DYNC1I1_ENST00000437599.1_Nonsense_Mutation_p.G110*	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	110	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.G110*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAGTGAAGCTGGAAGCCAAGA	0.428																																																1	Substitution - Nonsense(1)	ovary(1)	7											80	78	78					7																	95442612		2203	4300	6503	95280548	SO:0001587	stop_gained	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.328G>T	7.37:g.95442612G>T	ENSP00000320130:p.Gly110*		95280548	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Nonsense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	35	5.559091	0.96514	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.2279	18.8307	0.92137	0.0:0.0:1.0:0.0	.	.	.	.	X	93;110;93;110;93;93;93;93	.	ENSP00000320130:G110X	G	+	1	0	DYNC1I1	95280548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.577000	0.98196	2.861000	0.98227	0.655000	0.94253	GGA		0.428	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		T	95442612	G	T	95442612	4	4	136	1	0	0	0	0	0	1	0	0	4842	1349	47	3	338	3	DYNC1I1	7	95442612	Nonsense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09	73536383	95442612	63696051	20	7457											
SRRT	51593	genome.wustl.edu	37	7	100485713	100485713	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr7:100485713C>A	ENST00000347433.4	+	18	2535	c.2377C>A	c.(2377-2379)Cag>Aag	p.Q793K	SRRT_ENST00000388793.4_Missense_Mutation_p.Q792K|SRRT_ENST00000457580.2_Missense_Mutation_p.Q789K|SRRT_ENST00000432932.1_Missense_Mutation_p.Q788K			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	793	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q793K(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCAGACTCCCCAGGGCCTGAT	0.627																																																1	Substitution - Missense(1)	ovary(1)	7											51	55	54					7																	100485713		2203	4300	6503	100323649	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2377C>A	7.37:g.100485713C>A	ENSP00000314491:p.Gln793Lys		100323649	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080174	0.36662	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764;ENST00000445337	.	.	.	4.91	4.91	0.64330	Arsenite-resistance protein 2 (1);	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	L	0.49350	1.555	0.58432	D	0.999999	P;P;P;P	0.52577	0.954;0.859;0.859;0.884	D;P;P;P	0.65140	0.932;0.554;0.554;0.682	T	0.60682	-0.7215	9	0.18710	T	0.47	.	15.6172	0.76775	0.0:1.0:0.0:0.0	.	792;788;789;793	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	K	789;792;158;788;793;423;70	.	ENSP00000344670:Q158K	Q	+	1	0	SRRT	100323649	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.652000	0.74377	2.545000	0.85829	0.484000	0.47621	CAG		0.627	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		A	100485713	C	A	100485713	3	1	136	1	0	0	0	0	1	0	0	0	15174	595	21	3	2443	3	SRRT	7	100485713	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09	5043101	100485713	58652950	21	7458											
C7orf60	154743	genome.wustl.edu	37	7	112535741	112535741	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr7:112535741T>A	ENST00000297145.4	-	3	521	c.356A>T	c.(355-357)gAt>gTt	p.D119V	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	119							rRNA (adenine) methyltransferase activity (GO:0016433)	p.D119V(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TCTTTTTTCATCTTTCTCAAG	0.363																																																1	Substitution - Missense(1)	ovary(1)	7											152	139	143					7																	112535741		1843	4091	5934	112322977	SO:0001583	missense	154743				CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"hypothetical protein FLJ31818"						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.356A>T	7.37:g.112535741T>A	ENSP00000297145:p.Asp119Val		112322977	Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155896	0.78114	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.78685	0.4322	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.83275	0.996;0.852	T	0.80910	-0.1171	9	0.72032	D	0.01	-14.4182	16.087	0.81065	0.0:0.0:0.0:1.0	.	66;119	B4DST1;Q1RMZ1	.;CG060_HUMAN	V	119;101;66	.	ENSP00000297145:D119V	D	-	2	0	C7orf60	112322977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.212000	0.65225	2.202000	0.70862	0.533000	0.62120	GAT		0.363	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		A	112535741	T	A	112535741	3	1	136	1	0	0	0	0	1	0	0	0	2407	1435	50	5	873	5	C7orf60	7	112535741	Missense_Mutation	SNP	T	TCGA-13-1491-01A-01W-0549-09	12050028	112535741	46602922	22	7459											
GPR85	54329	genome.wustl.edu	37	7	112723805	112723805	+	Silent	SNP	A	A	G			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr7:112723805A>G	ENST00000297146.3	-	3	1575	c.972T>C	c.(970-972)gcT>gcC	p.A324A	GPR85_ENST00000424100.1_Silent_p.A324A|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Silent_p.A324A|GPR85_ENST00000449591.1_Silent_p.A324A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	324					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A324A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCATCCAGACAGCAGCTGTTA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	7											53	56	55					7																	112723805		2203	4300	6503	112511041	SO:0001819	synonymous_variant	54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.972T>C	7.37:g.112723805A>G			112511041	Q9JHI6|Q9NPD1	Silent	SNP	ENST00000297146.3	37	CCDS5758.1																																																																																				0.488	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			G	112723805	A	G	112723805	2	3	136	1	0	0	0	0	0	0	0	1	6715	175	7	4		4	GPR85	7	112723805	Silent	SNP	A	TCGA-13-1491-01A-01W-0549-09	188064	112723805	46414858	23	7460											
SVIL	6840	genome.wustl.edu	37	10	29759392	29759392	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr10:29759392C>T	ENST00000355867.4	-	32	6408	c.5656G>A	c.(5656-5658)Gtg>Atg	p.V1886M	PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.V800M|SVIL_ENST00000375398.2_Missense_Mutation_p.V1886M|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.V1460M|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1886					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.V1886M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTCCACGCACGCAGTACAGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	10											56	51	53					10																	29759392		2203	4300	6503	29799398	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5656G>A	10.37:g.29759392C>T	ENSP00000348128:p.Val1886Met		29799398	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.067637|5.067637	0.93898|0.93898	.|.	.|.	ENSG00000197321|ENSG00000197321	ENST00000535994|ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	.|T;T;T;T	.|0.27256	.|1.68;1.68;1.68;1.68	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57888|0.57888	0.2084|0.2084	M|M	0.86097|0.86097	2.795|2.795	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.995;0.985	.|D;P;P	.|0.70227	.|0.968;0.891;0.604	T|T	0.63659|0.63659	-0.6587|-0.6587	6|10	0.41790|0.87932	T|D	0.15|0	-12.7604|-12.7604	19.6337|19.6337	0.95721|0.95721	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|800;1460;1886	.|F5H2Q5;O95425-2;O95425	.|.;.;SVIL_HUMAN	H|M	749|1460;1886;1886;800	.|ENSP00000364549:V1460M;ENSP00000364547:V1886M;ENSP00000348128:V1886M;ENSP00000445472:V800M	ENSP00000440120:R749H|ENSP00000348128:V1886M	R|V	-|-	2|1	0|0	SVIL|SVIL	29799398|29799398	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.763000|0.763000	0.43281|0.43281	7.681000|7.681000	0.84073|0.84073	2.633000|2.633000	0.89246|0.89246	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.617	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			T	29759392	C	T	29759392	3	4	136	1	0	0	0	0	1	0	0	0	15421	536	19	1	1016	1	SVIL	10	29759392	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09		29759392	105775355	24	7461											
PELI3	246330	genome.wustl.edu	37	11	66240744	66240744	+	Silent	SNP	C	C	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr11:66240744C>T	ENST00000320740.7	+	6	649	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000349459.6_Silent_p.F139F|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000524466.1_Silent_p.F163F|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	163					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F163F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGATTGACTTCGTGGTAACAG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	11											68	68	68					11																	66240744		2200	4295	6495	65997320	SO:0001819	synonymous_variant	246330			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.489C>T	11.37:g.66240744C>T			65997320	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	CCDS31615.1																																																																																				0.612	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		T	66240744	C	T	66240744	2	4	136	1	0	0	0	0	0	0	0	1	11723	883	31	1		1	PELI3	11	66240744	Silent	SNP	C	TCGA-13-1491-01A-01W-0549-09		66240744	68765772	25	7462											
CCDC63	160762	genome.wustl.edu	37	12	111296397	111296397	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr12:111296397A>C	ENST00000308208.5	+	4	429	c.187A>C	c.(187-189)Atc>Ctc	p.I63L	CCDC63_ENST00000545036.1_Missense_Mutation_p.I23L|CCDC63_ENST00000552694.1_5'UTR|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	63								p.I63L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAGCAAGGAGATCAAGACCCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											78	74	76					12																	111296397		2203	4300	6503	109780780	SO:0001583	missense	160762			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.187A>C	12.37:g.111296397A>C	ENSP00000312399:p.Ile63Leu		109780780	B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419436	0.62622	.	.	ENSG00000173093	ENST00000545036;ENST00000308208	T;T	0.52057	0.9;0.68	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.79475	2.455	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.65545	-0.6142	10	0.30078	T	0.28	.	12.2005	0.54321	1.0:0.0:0.0:0.0	.	63	Q8NA47	CCD63_HUMAN	L	23;63	ENSP00000445881:I23L;ENSP00000312399:I63L	ENSP00000312399:I63L	I	+	1	0	CCDC63	109780780	1.000000	0.71417	0.987000	0.45799	0.268000	0.26511	4.850000	0.62889	2.136000	0.66102	0.454000	0.30748	ATC		0.502	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		C	111296397	A	C	111296397	3	2	136	1	0	0	0	0	1	0	0	0	2834	333	12	5	197	5	CCDC63	12	111296397	Missense_Mutation	SNP	A	TCGA-13-1491-01A-01W-0549-09		111296397	22555498	26	7463											
ZMYM2	7750	genome.wustl.edu	37	13	20641011	20641011	+	Silent	SNP	A	A	G			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr13:20641011A>G	ENST00000382874.2	+	21	3343	c.3153A>G	c.(3151-3153)gtA>gtG	p.V1051V	ZMYM2_ENST00000382869.3_Silent_p.V1051V|ZMYM2_ENST00000382871.2_Silent_p.V1051V|ZMYM2_ENST00000494061.2_3'UTR	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1051					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.V1049V(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GAAAGGCTGTATCAGGATACC	0.348																																																1	Substitution - coding silent(1)	ovary(1)	13											99	90	93					13																	20641011		1843	4084	5927	19539011	SO:0001819	synonymous_variant	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3153A>G	13.37:g.20641011A>G			19539011	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	CCDS45016.1																																																																																				0.348	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		G	20641011	A	G	20641011	2	3	136	1	0	0	0	0	0	0	0	1	17700	436	16	4		4	ZMYM2	13	20641011	Silent	SNP	A	TCGA-13-1491-01A-01W-0549-09		20641011	94528867	27	7464											
UFM1	51569	genome.wustl.edu	37	13	38928430	38928441	+	Splice_Site	DEL	AGAAGTAAGTAC	AGAAGTAAGTAC	-			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	AGAAGTAAGTAC	AGAAGTAAGTAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr13:38928430_38928441delAGAAGTAAGTAC	ENST00000239878.4	+	3	153_156	c.114_117delAGAAGTAAGTAC	c.(112-117)gaagaa>ga	p.EE38del	UFM1_ENST00000379641.1_Splice_Site_p.EE56del|UFM1_ENST00000379649.1_Splice_Site_p.EE56del	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	38					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.?(1)		lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TTGCAGCAGAAGAAGTAAGTACAGaagttgga	0.377																																																1	Unknown(1)	ovary(1)	13																																								37826441	SO:0001630	splice_region_variant	51569			AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"chromosome 13 open reading frame 20"	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.117+1AGAAGTAAGTAC>-	13.37:g.38928430_38928441delAGAAGTAAGTAC			37826430	Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Frame_Shift_Del	DEL	ENST00000239878.4	37	CCDS9366.1																																																																																				0.377	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	NM_016617	In_Frame_Del	-	38928441	AGAAGTAAGTAC	-	38928430	8	5	136	1	0	1	0	1	0	0	1	0	16936	69	3	0	124	0	UFM1	13	38928430	Splice_Site	DEL	AGAAGTAAGTAC	TCGA-13-1491-01A-01W-0549-09	18287419	38928430	76241448	28	7465											
CHD8	57680	genome.wustl.edu	37	14	21870533	21870533	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr14:21870533G>C	ENST00000557364.1	-	19	4107	c.3844C>G	c.(3844-3846)Ctt>Gtt	p.L1282V	CHD8_ENST00000399982.2_Missense_Mutation_p.L1282V|CHD8_ENST00000430710.3_Missense_Mutation_p.L1003V|CHD8_ENST00000555962.1_5'UTR			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1282	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.L1282V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATGGATTGAAGCACAGCCTTA	0.448																																																1	Substitution - Missense(1)	ovary(1)	14											112	112	112					14																	21870533		2201	4299	6500	20940373	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3844C>G	14.37:g.21870533G>C	ENSP00000451601:p.Leu1282Val		20940373	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.45|17.45	3.393525|3.393525	0.62066|0.62066	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|T;T;T	.|0.78003	.|-1.14;-1.14;-1.14	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Helicase, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.82089|0.82089	0.4961|0.4961	L|L	0.47190|0.47190	1.495|1.495	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.80654|0.80654	-0.1286|-0.1286	5|10	.|0.46703	.|T	.|0.11	-17.3333|-17.3333	8.4119|8.4119	0.32648|0.32648	0.1574:0.0:0.8426:0.0|0.1574:0.0:0.8426:0.0	.|.	.|1282;1003	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	G|V	507|1003;1282;1002;1282	.|ENSP00000406288:L1003V;ENSP00000382863:L1282V;ENSP00000451601:L1282V	.|ENSP00000262707:L1002V	A|L	-|-	2|1	0|0	CHD8|CHD8	20940373|20940373	0.954000|0.954000	0.32549|0.32549	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.601000|1.601000	0.36773|0.36773	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.448	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		C	21870533	G	C	21870533	3	2	136	1	0	0	0	0	1	0	0	0	3331	971	34	3	3981	3	CHD8	14	21870533	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09		21870533	85479007	29	7466											
FOXN3	1112	genome.wustl.edu	37	14	89628930	89628930	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr14:89628930G>A	ENST00000345097.4	-	7	1417	c.1301C>T	c.(1300-1302)aCa>aTa	p.T434I	FOXN3_ENST00000557258.1_Missense_Mutation_p.T412I|FOXN3_ENST00000261302.5_Missense_Mutation_p.T434I|FOXN3_ENST00000555353.1_Missense_Mutation_p.T412I	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	434					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T412I(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGGGGCAGTGTGTCGCTGGG	0.612																																																1	Substitution - Missense(1)	ovary(1)	14											94	86	89					14																	89628930		2203	4300	6503	88698683	SO:0001583	missense	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1301C>T	14.37:g.89628930G>A	ENSP00000343288:p.Thr434Ile		88698683	Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225331	0.58668	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.95	5.95	0.96441	.	0.114128	0.64402	D	0.000017	T	0.66406	0.2786	L	0.50333	1.59	0.58432	D	0.999997	P;P	0.44478	0.818;0.836	B;P	0.46758	0.3;0.526	T	0.63065	-0.6720	10	0.38643	T	0.18	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	434;412	O00409;O00409-2	FOXN3_HUMAN;.	I	434;434;412;412	ENSP00000343288:T434I;ENSP00000261302:T434I;ENSP00000452005:T412I;ENSP00000452227:T412I	ENSP00000261302:T434I	T	-	2	0	FOXN3	88698683	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.816000	0.99350	2.824000	0.97209	0.655000	0.94253	ACA		0.612	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		A	89628930	G	A	89628930	3	1	136	1	0	0	0	0	1	0	0	0	6021	1377	48	2	175	2	FOXN3	14	89628930	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09	67758397	89628930	17720610	30	7467											
IL16	3603	genome.wustl.edu	37	15	81585210	81585210	+	Silent	SNP	G	G	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr15:81585210G>A	ENST00000302987.4	+	11	1734	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	IL16_ENST00000394660.2_Silent_p.P578P			Q14005	IL16_HUMAN	interleukin 16	578					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P578P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCACCCGCCGCTGAGACTGA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	15											29	33	32					15																	81585210		1870	4095	5965	79372265	SO:0001819	synonymous_variant	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1734G>A	15.37:g.81585210G>A			79372265	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																				0.567	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		A	81585210	G	A	81585210	2	1	136	1	0	0	0	0	0	0	0	1	7633	1074	38	1		1	IL16	15	81585210	Silent	SNP	G	TCGA-13-1491-01A-01W-0549-09		81585210	20946182	31	7468											
ERN2	10595	genome.wustl.edu	37	16	23716380	23716380	+	Silent	SNP	G	G	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr16:23716380G>A	ENST00000457008.2	-	8	716	c.678C>T	c.(676-678)ggC>ggT	p.G226G	ERN2_ENST00000256797.4_Silent_p.G274G					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCACAGGCACGCCCAGGTCCT	0.662																																																0			16											55	50	52					16																	23716380		2197	4300	6497	23623881	SO:0001819	synonymous_variant	10595			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.678C>T	16.37:g.23716380G>A			23623881		Silent	SNP	ENST00000457008.2	37																																																																																					0.662	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			A	23716380	G	A	23716380	2	1	136	1	0	0	0	0	0	0	0	1	5238	1074	38	1		1	ERN2	16	23716380	Silent	SNP	G	TCGA-13-1491-01A-01W-0549-09		23716380	66638373	32	7469											
TP53	7157	genome.wustl.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	AGGACAGGCACAAACACGCAC	0.552		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"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	17	GRCh37	CM076568|CM951234	TP53	M							71	61	64					17																	7577114		2203	4300	6503	7517839	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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr		7517839	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	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	0.99883	0.9944	M	0.92738	3.34	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;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577114	C	T	7577114	3	4	136	1	0	0	0	0	1	0	0	0	16381	478	17	2	462	2	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09		7577114	73618096	33	7470											
RNF213	57674	genome.wustl.edu	37	17	78350233	78350233	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr17:78350233G>A	ENST00000582970.1	+	52	13461	c.13318G>A	c.(13318-13320)Gat>Aat	p.D4440N	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.D4489N|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.D2513N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4440					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D2513N(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCAACCTTGATGGAACGGT	0.522																																																1	Substitution - Missense(1)	ovary(1)	17											148	129	135					17																	78350233		2203	4300	6503	75964828	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13318G>A	17.37:g.78350233G>A	ENSP00000464087:p.Asp4440Asn		75964828	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446136	0.25987	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22539	1.95	5.47	-3.83	0.04269	.	1.185250	0.05914	N	0.632297	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.37619	-0.9698	10	0.17832	T	0.49	.	7.4823	0.27413	0.1539:0.5515:0.2035:0.0912	.	4489;2513	C9JCP4;Q63HN8	.;RN213_HUMAN	N	4440;4489;2513	ENSP00000338218:D2513N	ENSP00000338218:D2513N	D	+	1	0	RNF213	75964828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.062000	0.11674	-0.498000	0.06632	-1.268000	0.01426	GAT		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78350233	G	A	78350233	3	1	136	1	0	0	0	0	1	0	0	0	13480	1290	45	2	13839	2	RNF213	17	78350233	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09	70773119	78350233	2844977	34	7471											
DSG1	1828	genome.wustl.edu	37	18	28913635	28913635	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr18:28913635C>A	ENST00000257192.4	+	7	980	c.768C>A	c.(766-768)aaC>aaA	p.N256K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	256	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.N256K(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTGAGTGCAACATTAAAATCC	0.388																																																1	Substitution - Missense(1)	ovary(1)	18											163	145	151					18																	28913635		2203	4300	6503	27167633	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.768C>A	18.37:g.28913635C>A	ENSP00000257192:p.Asn256Lys		27167633	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	c	8.250	0.808844	0.16467	.	.	ENSG00000134760	ENST00000257192	T	0.52526	0.66	5.96	0.846	0.18955	Cadherin (5);Cadherin-like (1);	0.821629	0.11290	N	0.579325	T	0.16557	0.0398	N	0.03268	-0.37	0.35569	D	0.805343	B	0.06786	0.001	B	0.11329	0.006	T	0.40887	-0.9539	10	0.02654	T	1	.	2.8042	0.05423	0.1917:0.4648:0.1517:0.1918	.	256	Q02413	DSG1_HUMAN	K	256	ENSP00000257192:N256K	ENSP00000257192:N256K	N	+	3	2	DSG1	27167633	0.000000	0.05858	0.868000	0.34077	0.826000	0.46750	-0.517000	0.06275	0.435000	0.26365	-0.121000	0.15023	AAC		0.388	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		A	28913635	C	A	28913635	3	1	136	1	0	0	0	0	1	0	0	0	4776	477	17	3	794	3	DSG1	18	28913635	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09		28913635	49163613	35	7472											
ZNF407	55628	genome.wustl.edu	37	18	72589219	72589219	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr18:72589219A>T	ENST00000299687.5	+	4	4944	c.4944A>T	c.(4942-4944)aaA>aaT	p.K1648N	ZNF407_ENST00000577538.1_Missense_Mutation_p.K1648N|ZNF407_ENST00000584235.1_3'UTR	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1648					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K1648N(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACCACATGAAACTCCACACGG	0.453																																																1	Substitution - Missense(1)	ovary(1)	18											92	94	93					18																	72589219		1936	4135	6071	70718207	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4944A>T	18.37:g.72589219A>T	ENSP00000299687:p.Lys1648Asn		70718207	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271071	0.80469	.	.	ENSG00000215421	ENST00000299687	T	0.24723	1.84	5.93	-3.86	0.04230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.166700	0.35936	N	0.002895	T	0.32436	0.0829	L	0.31526	0.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62941	-0.6747	10	0.66056	D	0.02	.	15.2367	0.73436	0.3668:0.0:0.6332:0.0	.	1648;1648	Q9C0G0-2;Q9C0G0	.;ZN407_HUMAN	N	1648	ENSP00000299687:K1648N	ENSP00000299687:K1648N	K	+	3	2	ZNF407	70718207	0.828000	0.29307	0.846000	0.33378	0.996000	0.88848	0.053000	0.14184	2.818000	0.97014	0.591000	0.81541	AAA		0.453	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		T	72589219	A	T	72589219	3	4	136	1	0	0	0	0	1	0	0	0	17887	40	2	5	5068	5	ZNF407	18	72589219	Missense_Mutation	SNP	A	TCGA-13-1491-01A-01W-0549-09	43675584	72589219	5488029	36	7473											
CLPP	8192	genome.wustl.edu	37	19	6368570	6368570	+	Missense_Mutation	SNP	G	G	A	rs142079552		TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr19:6368570G>A	ENST00000245816.4	+	6	806	c.683G>A	c.(682-684)cGc>cAc	p.R228H	CLPP_ENST00000596149.1_Missense_Mutation_p.R141H|CLPP_ENST00000596605.1_3'UTR	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	228					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.R228H(1)		endometrium(2)|large_intestine(2)|ovary(2)	6						GAGAGGGACCGCTACATGAGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	19						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	54	41	45		683	3.1	1	19	dbSNP_134	45	0,8600		0,0,4300	no	missense	CLPP	NM_006012.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	228/278	6368570	2,13004	2203	4300	6503	6319570	SO:0001583	missense	8192			Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"ATPases / AAA-type"	2084	protein-coding gene	gene with protein product	"ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"	601119	"ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog", "ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)", "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.683G>A	19.37:g.6368570G>A	ENSP00000245816:p.Arg228His		6319570	B2R4W5	Missense_Mutation	SNP	ENST00000245816.4	37	CCDS12162.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563475	0.45694	4.54E-4	0.0	ENSG00000125656	ENST00000245816	.	.	.	5.2	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	N	0.24115	0.695	0.80722	D	1	B	0.31153	0.31	B	0.26416	0.069	T	0.08351	-1.0726	9	0.29301	T	0.29	-24.4795	10.8629	0.46837	0.156:0.0:0.844:0.0	.	228	Q16740	CLPP_HUMAN	H	228	.	ENSP00000245816:R228H	R	+	2	0	CLPP	6319570	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	8.719000	0.91436	0.704000	0.31869	0.563000	0.77884	CGC		0.607	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452984.1	NM_006012		A	6368570	G	A	6368570	3	1	136	1	0	0	0	0	1	0	0	0	3552	1087	38	1	705	1	CLPP	19	6368570	Missense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09		6368570	52760413	37	7474											
C19orf62	29086	genome.wustl.edu	37	19	17382464	17382464	+	Splice_Site	SNP	G	G	T			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr19:17382464G>T	ENST00000359435.4	+	3	537	c.344G>T	c.(343-345)gGc>gTc	p.G115V	CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000598188.1_Splice_Site_p.G115V|BABAM1_ENST00000601043.1_Splice_Site_p.G115V|BABAM1_ENST00000595632.1_Splice_Site_p.G115V|BABAM1_ENST00000447614.2_Splice_Site_p.G115V	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	115	VWFA-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G115V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TCGTTCAACGGGTAAGAGGGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	19											82	81	81					19																	17382464		2054	4186	6240	17243464	SO:0001630	splice_region_variant	29086			AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"Mediator of Rap80 Interactions and Targeting 40 kD", "new component of the BRCA1 A complex"	612766	"chromosome 19 open reading frame 62"	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.344+1G>T	19.37:g.17382464G>T			17243464	A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Missense_Mutation	SNP	ENST00000359435.4	37	CCDS46012.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468598	0.63625	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000448635	.	.	.	3.97	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.91635	0.999;0.905	T	0.79429	-0.1807	9	0.87932	D	0	-28.5384	13.6129	0.62091	0.0:0.0:1.0:0.0	.	115;115	Q9NWV8-3;Q9NWV8	.;BABA1_HUMAN	V	115	.	ENSP00000352408:G115V	G	+	2	0	BABAM1	17243464	1.000000	0.71417	0.852000	0.33557	0.577000	0.36160	8.545000	0.90657	2.065000	0.61736	0.561000	0.74099	GGC		0.532	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1	NM_014173	Missense_Mutation	T	17382464	G	T	17382464	5	4	136	1	0	0	0	0	0	0	1	0	1944	1246	43	3	350	3	C19orf62	19	17382464	Splice_Site	SNP	G	TCGA-13-1491-01A-01W-0549-09	11013894	17382464	41746519	38	7475											
TPTE	7179	genome.wustl.edu	37	21	10934052	10934052	+	Missense_Mutation	SNP	C	C	T	rs373623566		TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr21:10934052C>T	ENST00000361285.4	-	16	1254	c.925G>A	c.(925-927)Gtc>Atc	p.V309I	TPTE_ENST00000342420.5_Missense_Mutation_p.V271I|TPTE_ENST00000298232.7_Missense_Mutation_p.V291I|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	309	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V291I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGTGGGGACATTATGATCA	0.299																																																1	Substitution - Missense(1)	ovary(1)	21											158	166	163					21																	10934052		2203	4300	6503	9955923	SO:0001583	missense	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.925G>A	21.37:g.10934052C>T	ENSP00000355208:p.Val309Ile		9955923	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	13.57	2.276361	0.40294	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.31247	1.5;1.5;1.5	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.53077	0.1774	M	0.83223	2.63	0.52501	D	0.999955	D;D;P	0.76494	0.999;0.999;0.87	D;D;P	0.74674	0.984;0.984;0.754	T	0.58346	-0.7652	10	0.54805	T	0.06	-22.3245	10.2257	0.43225	0.0:1.0:0.0:0.0	.	271;291;309	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	291;309;271	ENSP00000298232:V291I;ENSP00000355208:V309I;ENSP00000344441:V271I	ENSP00000298232:V291I	V	-	1	0	TPTE	9955923	1.000000	0.71417	0.746000	0.31095	0.447000	0.32167	5.904000	0.69886	1.470000	0.48102	0.194000	0.17425	GTC		0.299	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10934052	C	T	10934052	3	4	136	1	0	0	0	0	1	0	0	0	16430	478	17	2	766	2	TPTE	21	10934052	Missense_Mutation	SNP	C	TCGA-13-1491-01A-01W-0549-09		10934052	37195843	39	7476											
SCUBE1	80274	genome.wustl.edu	37	22	43614426	43614426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr22:43614426G>A	ENST00000360835.4	-	15	1852	c.1726C>T	c.(1726-1728)Cag>Tag	p.Q576*		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	576					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.Q576*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCAGGCTCTGTTCTGCTCGC	0.602																																																1	Substitution - Nonsense(1)	ovary(1)	22											80	84	83					22																	43614426		2203	4300	6503	41944370	SO:0001587	stop_gained	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1726C>T	22.37:g.43614426G>A	ENSP00000354080:p.Gln576*		41944370	Q5R336	Nonsense_Mutation	SNP	ENST00000360835.4	37	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097292	0.94197	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	.	.	.	4.4	4.4	0.53042	.	0.387612	0.30556	N	0.009362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	17.2191	0.86952	0.0:0.0:1.0:0.0	.	.	.	.	X	576;206	.	ENSP00000354080:Q576X	Q	-	1	0	SCUBE1	41944370	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	1.967000	0.40491	2.287000	0.76781	0.558000	0.71614	CAG		0.602	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		A	43614426	G	A	43614426	4	1	136	1	0	0	0	0	0	1	0	0	13947	1386	48	2	1272	2	SCUBE1	22	43614426	Nonsense_Mutation	SNP	G	TCGA-13-1491-01A-01W-0549-09		43614426	7690140	40	7477											
GRAMD4	23151	genome.wustl.edu	37	22	47022815	47022815	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	T	T	A	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chr22:47022815T>A	ENST00000406902.1	+	2	332	c.119T>A	c.(118-120)gTa>gAa	p.V40E	GRAMD4_ENST00000361034.3_Missense_Mutation_p.V40E|GRAMD4_ENST00000490378.1_Splice_Site			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	40					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.V40E(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCCCTGAAGGTACCGCGGACC	0.612																																																1	Substitution - Missense(1)	ovary(1)	22											113	94	100					22																	47022815		2203	4300	6503	45401479	SO:0001583	missense	23151				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.119T>A	22.37:g.47022815T>A	ENSP00000385689:p.Val40Glu		45401479	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	T	3.280	-0.147320	0.06627	.	.	ENSG00000075240	ENST00000447351;ENST00000406902;ENST00000361034	T;T	0.44482	0.92;0.92	4.44	-0.173	0.13322	.	1.343290	0.05666	N	0.587756	T	0.24392	0.0591	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.12837	0.008	T	0.28299	-1.0048	10	0.56958	D	0.05	-0.0977	8.0562	0.30606	0.0:0.3696:0.0:0.6304	.	40	Q6IC98	GRAM4_HUMAN	E	40	ENSP00000385689:V40E;ENSP00000354313:V40E	ENSP00000354313:V40E	V	+	2	0	GRAMD4	45401479	0.010000	0.17322	0.000000	0.03702	0.105000	0.19272	0.154000	0.16343	-0.290000	0.09025	0.378000	0.23410	GTA		0.612	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		A	47022815	T	A	47022815	3	1	136	1	0	0	0	0	1	0	0	0	6752	1638	57	5	121	5	GRAMD4	22	47022815	Missense_Mutation	SNP	T	TCGA-13-1491-01A-01W-0549-09	3408389	47022815	4281751	41	7478											
TGIF2LX	90316	genome.wustl.edu	37	X	89177102	89177102	+	Silent	SNP	C	C	T	rs372625687		TCGA-13-1491-01A-01W-0549-09	TCGA-13-1491-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	fb7d1c2b-3e87-4d05-a58b-92d0e1016986	95848a3e-2292-4a0a-ace2-683e70709a56	g.chrX:89177102C>T	ENST00000561129.2	+	1	148	c.18C>T	c.(16-18)gaC>gaT	p.D6D	TGIF2LX_ENST00000283891.5_Silent_p.D6D			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D6D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGCTGCGGACGGCCCGGCTG	0.517																																																1	Substitution - coding silent(1)	ovary(1)	X						C		0,3832		0,0,1631,570	45	53	51		18	-2.4	0	X		51	1,6727		0,1,2427,1872	no	coding-synonymous	TGIF2LX	NM_138960.3		0,1,4058,2442	TT,TC,CC,C		0.0149,0.0,0.0095		6/242	89177102	1,10559	2201	4300	6501	89063758	SO:0001819	synonymous_variant	90316			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.18C>T	X.37:g.89177102C>T			89063758	Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	CCDS14459.1																																																																																				0.517	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		T	89177102	C	T	89177102	2	4	136	1	0	0	0	0	0	0	0	1	15827	535	19	1		1	TGIF2LX	23	89177102	Silent	SNP	C	TCGA-13-1491-01A-01W-0549-09		89177102	66093458	42	7479											
PINK1	65018	broad.mit.edu	37	1	20975680	20975680	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr1:20975680G>A	ENST00000321556.4	+	7	1538	c.1444G>A	c.(1444-1446)Gtg>Atg	p.V482M	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.V482M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCTCCAGACGTGAGACAGTT	0.612																																					Esophageal Squamous(145;853 1803 8146 34412 35011)											1	Substitution - Missense(1)	ovary(1)	1											53	50	51					1																	20975680		2203	4300	6503	20848267	SO:0001583	missense	65018			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1444G>A	1.37:g.20975680G>A	ENSP00000364204:p.Val482Met		20848267	Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	CCDS211.1	.	.	.	.	.	.	.	.	.	.	G	7.191	0.591600	0.13812	.	.	ENSG00000158828	ENST00000321556	T	0.74315	-0.83	6.17	-1.19	0.09585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.646613	0.16588	N	0.207902	T	0.58395	0.2119	L	0.41124	1.26	0.09310	N	1	P;P	0.45827	0.579;0.867	B;B	0.36244	0.09;0.22	T	0.52845	-0.8521	10	0.48119	T	0.1	-7.4371	10.1346	0.42699	0.4882:0.0:0.5118:0.0	.	175;482	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	M	482	ENSP00000364204:V482M	ENSP00000364204:V482M	V	+	1	0	PINK1	20848267	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	1.540000	0.36115	-0.482000	0.06782	-0.768000	0.03414	GTG		0.612	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		A	20975680	G	A	20975680	3	1	137	1	0	0	0	0	1	0	0	0	11932	1145	40	1	1470	1	PINK1	1	20975680	Missense_Mutation	SNP	G	TCGA-13-1492-01A-01D-0472-08		20975680	228274941	1	7480											
TNN	63923	broad.mit.edu	37	1	175066671	175066671	+	Silent	SNP	C	C	T	rs140149976		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr1:175066671C>T	ENST00000239462.4	+	8	1820	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	569	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.D569D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTCTGCTGACGACCAAGAGA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	1						C		1,4405	2.1+/-5.4	0,1,2202	85	71	76		1707	-5	0	1	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	TNN	NM_022093.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		569/1300	175066671	1,13005	2203	4300	6503	173333294	SO:0001819	synonymous_variant	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1707C>T	1.37:g.175066671C>T			173333294	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																				0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175066671	C	T	175066671	2	4	137	1	0	0	0	0	0	0	0	1	16323	535	19	1		1	TNN	1	175066671	Silent	SNP	C	TCGA-13-1492-01A-01D-0472-08	154090991	175066671	74183950	2	7481											
KCNF1	3754	broad.mit.edu	37	2	11053305	11053305	+	Silent	SNP	G	G	A			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr2:11053305G>A	ENST00000295082.1	+	1	1243	c.753G>A	c.(751-753)gcG>gcA	p.A251A		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	251					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.A251A(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGCACTTCGCGCTGTCCTTCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	2											96	79	85					2																	11053305		2203	4300	6503	10970756	SO:0001819	synonymous_variant	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.753G>A	2.37:g.11053305G>A			10970756	O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	CCDS1676.1																																																																																				0.612	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		A	11053305	G	A	11053305	2	1	137	1	0	0	0	0	0	0	0	1	8026	1074	38	1		1	KCNF1	2	11053305	Silent	SNP	G	TCGA-13-1492-01A-01D-0472-08		11053305	232146068	3	7482											
STAMBP	10617	broad.mit.edu	37	2	74076511	74076511	+	Missense_Mutation	SNP	G	G	A	rs146601260		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr2:74076511G>A	ENST00000394070.2	+	6	1267	c.764G>A	c.(763-765)cGc>cAc	p.R255H	STAMBP_ENST00000394073.1_Missense_Mutation_p.R255H|STAMBP_ENST00000339566.3_Missense_Mutation_p.R255H|STAMBP_ENST00000409707.1_Missense_Mutation_p.R255H|STAMBP_ENST00000536064.1_Missense_Mutation_p.A195T	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	255	MPN.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.R255H(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GATGGATTGCGCCATGTGGTG	0.567													G|||	1	0.000199681	0	0	5008	,	,		16961	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2						G	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	110	103	105		764,764,764	4.4	1	2	dbSNP_134	105	17,8583	12.6+/-44.7	0,17,4283	yes	missense,missense,missense	STAMBP	NM_006463.4,NM_201647.2,NM_213622.2	29,29,29	0,19,6484	AA,AG,GG		0.1977,0.0454,0.1461	probably-damaging,probably-damaging,probably-damaging	255/425,255/425,255/425	74076511	19,12987	2203	4300	6503	73930019	SO:0001583	missense	10617			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.764G>A	2.37:g.74076511G>A	ENSP00000377633:p.Arg255His		73930019	B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	CCDS1929.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.217497|4.217497	0.79352|0.79352	4.54E-4|4.54E-4	0.001977|0.001977	ENSG00000124356|ENSG00000124356	ENST00000536064|ENST00000339566;ENST00000539933;ENST00000409707;ENST00000432295;ENST00000394073;ENST00000394070	T|T;T;T;T;T	0.48836|0.56275	0.8|0.47;0.47;0.91;0.47;0.47	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70046|0.70046	0.3179|0.3179	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.58391	.|0.838	T|T	0.76019|0.76019	-0.3112|-0.3112	7|10	0.52906|0.66056	T|D	0.07|0.02	-1.533|-1.533	12.8946|12.8946	0.58091|0.58091	0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0	.|.	.|255	.|O95630	.|STABP_HUMAN	T|H	195|255	ENSP00000443502:A195T|ENSP00000344742:R255H;ENSP00000386548:R255H;ENSP00000413874:R255H;ENSP00000377636:R255H;ENSP00000377633:R255H	ENSP00000443502:A195T|ENSP00000344742:R255H	A|R	+|+	1|2	0|0	STAMBP|STAMBP	73930019|73930019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.569000|0.569000	0.35902|0.35902	9.578000|9.578000	0.98200|0.98200	1.472000|1.472000	0.48140|0.48140	-0.141000|-0.141000	0.14075|0.14075	GCC|CGC		0.567	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		A	74076511	G	A	74076511	3	1	137	1	0	0	0	0	1	0	0	0	15252	1087	38	1	782	1	STAMBP	2	74076511	Missense_Mutation	SNP	G	TCGA-13-1492-01A-01D-0472-08	63023206	74076511	169122862	4	7483											
NEB	4703	broad.mit.edu	37	2	152393705	152393705	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr2:152393705A>C	ENST00000172853.10	-	113	16192	c.16045T>G	c.(16045-16047)Tat>Gat	p.Y5349D	NEB_ENST00000409198.1_Missense_Mutation_p.Y5349D|NEB_ENST00000397345.3_Missense_Mutation_p.Y7050D|NEB_ENST00000603639.1_Missense_Mutation_p.Y7050D|NEB_ENST00000604864.1_Missense_Mutation_p.Y7050D|NEB_ENST00000427231.2_Missense_Mutation_p.Y7050D			P20929	NEBU_HUMAN	nebulin	5349					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Y5349D(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATAGGCATAGCAACCAATG	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											97	91	93					2																	152393705		1861	4095	5956	152101951	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16045T>G	2.37:g.152393705A>C	ENSP00000172853:p.Tyr5349Asp		152101951	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	A	27.2	4.812961	0.90707	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000420924	T;T;T;T;T;T	0.12774	3.2;2.65;3.12;3.19;3.2;2.97	6.07	6.07	0.98685	.	0.109676	0.64402	D	0.000005	T	0.34861	0.0912	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.70487	0.969;0.958	T	0.01360	-1.1375	10	0.41790	T	0.15	.	16.3011	0.82816	1.0:0.0:0.0:0.0	.	5349;1780	P20929;Q14215	NEBU_HUMAN;.	D	5349;7050;7050;1398;1780;5349;138	ENSP00000386259:Y5349D;ENSP00000380505:Y7050D;ENSP00000416578:Y7050D;ENSP00000410961:Y1780D;ENSP00000172853:Y5349D;ENSP00000405167:Y138D	ENSP00000172853:Y5349D	Y	-	1	0	NEB	152101951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.937000	0.92936	2.330000	0.79161	0.528000	0.53228	TAT		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152393705	A	C	152393705	3	2	137	1	0	0	0	0	1	0	0	0	10302	420	15	5	4706	5	NEB	2	152393705	Missense_Mutation	SNP	A	TCGA-13-1492-01A-01D-0472-08	78317194	152393705	90805668	5	7484											
MLH1	4292	broad.mit.edu	37	3	37042536	37042536	+	Nonsense_Mutation	SNP	C	C	T	rs63751221|rs63751691		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr3:37042536C>T	ENST00000231790.2	+	3	514	c.298C>T	c.(298-300)Cga>Tga	p.R100*	MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Silent_p.F3F|MLH1_ENST00000458205.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	100					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.R100*(3)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTATGGCTTTCGAGGTGAGGT	0.343		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	GRCh37	CM990855	MLH1	M							128	128	128					3																	37042536		2203	4300	6503	37017540	SO:0001587	stop_gained	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.298C>T	3.37:g.37042536C>T	ENSP00000231790:p.Arg100*		37017540	B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997777	0.93227	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937	.	.	.	5.91	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7529	13.5313	0.61623	0.2309:0.769:0.0:0.0	rs63751221	.	.	.	X	100;66;66	.	ENSP00000231790:R100X	R	+	1	2	MLH1	37017540	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.464000	0.53057	2.802000	0.96397	0.655000	0.94253	CGA		0.343	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		T	37042536	C	T	37042536	4	4	137	1	0	0	0	0	0	1	0	0	9617	885	31	1	308	1	MLH1	3	37042536	Nonsense_Mutation	SNP	C	TCGA-13-1492-01A-01D-0472-08		37042536	160979894	6	7485											
CYP8B1	1582	broad.mit.edu	37	3	42917233	42917233	+	Nonsense_Mutation	SNP	G	G	A	rs368202001		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr3:42917233G>A	ENST00000316161.4	-	1	400	c.76C>T	c.(76-78)Cga>Tga	p.R26*	CYP8B1_ENST00000437102.1_Nonsense_Mutation_p.R26*|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	26					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.R26*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGCGTTGTCGGAGCATCCCT	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	3						G	stop/ARG	2,4404		0,2,2201	40	40	40		76	0.7	0	3		40	0,8600		0,0,4300	no	stop-gained	CYP8B1	NM_004391.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		26/502	42917233	2,13004	2203	4300	6503	42892237	SO:0001587	stop_gained	1582			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.76C>T	3.37:g.42917233G>A	ENSP00000318867:p.Arg26*		42892237	B2RCY3|O75958|Q6NWT2|Q6NWT3	Nonsense_Mutation	SNP	ENST00000316161.4	37	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098234	0.56183	4.54E-4	0.0	ENSG00000180432	ENST00000437102;ENST00000316161	.	.	.	4.89	0.676	0.17958	.	0.068899	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8843	7.9069	0.29767	0.0769:0.0:0.5181:0.405	.	.	.	.	X	26	.	ENSP00000318867:R26X	R	-	1	2	CYP8B1	42892237	1.000000	0.71417	0.017000	0.16124	0.123000	0.20343	3.113000	0.50376	-0.058000	0.13177	0.561000	0.74099	CGA		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		A	42917233	G	A	42917233	4	1	137	1	0	0	0	0	0	1	0	0	4198	1124	39	1	1433	1	CYP8B1	3	42917233	Nonsense_Mutation	SNP	G	TCGA-13-1492-01A-01D-0472-08	5874697	42917233	155105197	7	7486											
TTC14	151613	broad.mit.edu	37	3	180327949	180327949	+	Silent	SNP	T	T	C			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr3:180327949T>C	ENST00000296015.4	+	12	2064	c.1932T>C	c.(1930-1932)taT>taC	p.Y644Y	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	644							RNA binding (GO:0003723)	p.Y644Y(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTATGGTTATAGGAGATTTG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	3											68	76	73					3																	180327949		2202	4296	6498	181810643	SO:0001819	synonymous_variant	151613			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1932T>C	3.37:g.180327949T>C			181810643	G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	CCDS3237.1																																																																																				0.388	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		C	180327949	T	C	180327949	2	2	137	1	0	0	0	0	0	0	0	1	16681	1413	49	4		4	TTC14	3	180327949	Silent	SNP	T	TCGA-13-1492-01A-01D-0472-08	137410716	180327949	17694481	8	7487											
KIT	3815	broad.mit.edu	37	4	55604659	55604659	+	Missense_Mutation	SNP	G	G	A	rs139694927		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr4:55604659G>A	ENST00000288135.5	+	21	2964	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	956					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R956Q(1)|p.R956L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTCTGTGCGGATCAATTCT	0.532		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	2	Substitution - Missense(2)	ovary(1)|lung(1)	4						G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	133	128	130		2867,2855	5.7	1	4	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIT	NM_000222.2,NM_001093772.1	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	956/977,952/973	55604659	2,13004	2203	4300	6503	55299416	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2867G>A	4.37:g.55604659G>A	ENSP00000288135:p.Arg956Gln		55299416	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486931	0.84854	2.27E-4	1.16E-4	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.77098	-1.07;-1.07	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000015	D	0.87712	0.6246	M	0.70275	2.135	0.58432	D	0.999993	D;D	0.89917	0.993;1.0	P;D	0.85130	0.836;0.997	D	0.88115	0.2828	10	0.66056	D	0.02	.	17.6745	0.88226	0.0:0.0:1.0:0.0	.	952;956	P10721-2;P10721	.;KIT_HUMAN	Q	956;952	ENSP00000288135:R956Q;ENSP00000390987:R952Q	ENSP00000288135:R956Q	R	+	2	0	KIT	55299416	1.000000	0.71417	0.995000	0.50966	0.202000	0.24057	8.247000	0.89830	2.706000	0.92434	0.561000	0.74099	CGG		0.532	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55604659	G	A	55604659	3	1	137	1	0	0	0	0	1	0	0	0	8329	1116	39	1	2949	1	KIT	4	55604659	Missense_Mutation	SNP	G	TCGA-13-1492-01A-01D-0472-08		55604659	135549617	9	7488											
REST	5978	broad.mit.edu	37	4	57777564	57777567	+	Frame_Shift_Del	DEL	ACAT	ACAT	-			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	ACAT	ACAT	-	-	ACAT	ACAT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr4:57777564_57777567delACAT	ENST00000309042.7	+	2	1074_1077	c.760_763delACAT	c.(760-765)acatacfs	p.TY254fs	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	254					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y255fs*3(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TATCATTTGCACATACACAACAGT	0.402																																																1	Deletion - Frameshift(1)	ovary(1)	4																																								57472324	SO:0001589	frameshift_variant	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.760_763delACAT	4.37:g.57777564_57777567delACAT	ENSP00000311816:p.Thr254fs		57472321	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Frame_Shift_Del	DEL	ENST00000309042.7	37	CCDS3509.1																																																																																				0.402	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		-	57777567	ACAT	-	57777564	7	5	137	1	0	1	0	1	0	0	0	0	13237	159	6	0	762	0	REST	4	57777564	Frame_Shift_Del	DEL	ACAT	TCGA-13-1492-01A-01D-0472-08	2172905	57777564	133376712	10	7489											
NUP155	9631	broad.mit.edu	37	5	37318111	37318111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr5:37318111C>A	ENST00000231498.3	-	21	2487	c.2284G>T	c.(2284-2286)Gaa>Taa	p.E762*	NUP155_ENST00000381843.2_Nonsense_Mutation_p.E703*|NUP155_ENST00000513532.1_Nonsense_Mutation_p.E762*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	762					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.E762*(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCTGCAGTTCCTGTTGCATT	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	5											208	196	200					5																	37318111		2203	4300	6503	37353868	SO:0001587	stop_gained	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2284G>T	5.37:g.37318111C>A	ENSP00000231498:p.Glu762*		37353868	Q9UBE9|Q9UFL5	Nonsense_Mutation	SNP	ENST00000231498.3	37	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	40	8.044425	0.98627	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.41	5.41	0.78517	.	0.147803	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	17.3652	0.87362	0.0:1.0:0.0:0.0	.	.	.	.	X	762;703;724;762	.	ENSP00000231498:E762X	E	-	1	0	NUP155	37353868	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.696000	0.74598	2.533000	0.85409	0.579000	0.79373	GAA		0.388	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		A	37318111	C	A	37318111	4	1	137	1	0	0	0	0	0	1	0	0	10756	864	30	3	1951	3	NUP155	5	37318111	Nonsense_Mutation	SNP	C	TCGA-13-1492-01A-01D-0472-08		37318111	143597149	11	7490											
TNXB	7148	broad.mit.edu	37	6	32029918	32029947	+	Splice_Site	DEL	CCCATCGTCCACTCACCTGTCACCCCGATG	CCCATCGTCCACTCACCTGTCACCCCGATG	-	rs201957485|rs204885|rs201201973	byFrequency	TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	CCCATCGTCCACTCACCTGTCACCCCGATG	CCCATCGTCCACTCACCTGTCACCCCGATG	-	-	CCCATCGTCCACTCACCTGTCACCCCGATG	CCCATCGTCCACTCACCTGTCACCCCGATG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr6:32029918_32029947delCCCATCGTCCACTCACCTGTCACCCCGATG	ENST00000375244.3	-	20	7356_7370	c.7155_7169delCATCGGGGTGACAGGTGAGTGGACGATGGG	c.(7153-7170)gccatcggggtgacaggt>gct	p.IGVTG2386del	TNXB_ENST00000375247.2_Splice_Site_p.IGVTG2386del			P22105	TENX_HUMAN	tenascin XB	2448	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCTGGGGCTCCCATCGTCCACTCACCTGTCACCCCGATGGCAGACACGG	0.613																																																1	Unknown(1)	ovary(1)	6																																								32137925	SO:0001630	splice_region_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7168+1CATCGGGGTGACAGGTGAGTGGACGATGGG>-	6.37:g.32029918_32029947delCCCATCGTCCACTCACCTGTCACCCCGATG			32137896	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Splice_Site	DEL	ENST00000375244.3	37																																																																																					0.613	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	In_Frame_Del	-	32029947	CCCATCGTCCACTCACCTGTCACCCCGATG	-	32029918	8	5	137	1	0	1	0	1	0	0	1	0	16346	870	30	0		0	TNXB	6	32029918	Splice_Site	DEL	CCCATCGTCCACTCACCTGTCACCCCGATG	TCGA-13-1492-01A-01D-0472-08		32029918	139085149	12	7491											
UBR2	23304	broad.mit.edu	37	6	42623407	42623407	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr6:42623407G>C	ENST00000372899.1	+	26	3076	c.2818G>C	c.(2818-2820)Gag>Cag	p.E940Q	UBR2_ENST00000372883.3_Missense_Mutation_p.E444Q|UBR2_ENST00000372901.1_Missense_Mutation_p.E940Q	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	940					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E940Q(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACAACATTTAGAGAATGTCAC	0.269																																																1	Substitution - Missense(1)	ovary(1)	6											88	83	85					6																	42623407		2203	4282	6485	42731385	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2818G>C	6.37:g.42623407G>C	ENSP00000361990:p.Glu940Gln		42731385	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	5.744	0.321751	0.10845	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.59502	0.26;0.26;0.43	5.96	5.96	0.96718	.	0.101123	0.64402	D	0.000002	T	0.24353	0.0590	N	0.13235	0.315	0.45490	D	0.99845	B;B	0.21821	0.061;0.003	B;B	0.18871	0.023;0.004	T	0.11397	-1.0589	10	0.14656	T	0.56	-20.5992	15.8507	0.78927	0.0:0.1349:0.8651:0.0	.	940;940	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	Q	940;940;444	ENSP00000361990:E940Q;ENSP00000361992:E940Q;ENSP00000361974:E444Q	ENSP00000361974:E444Q	E	+	1	0	UBR2	42731385	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.138000	0.64795	2.831000	0.97527	0.650000	0.86243	GAG		0.269	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		C	42623407	G	C	42623407	3	2	137	1	0	0	0	0	1	0	0	0	16902	943	33	3	3066	3	UBR2	6	42623407	Missense_Mutation	SNP	G	TCGA-13-1492-01A-01D-0472-08	10593489	42623407	128491660	13	7492											
CUL7	9820	broad.mit.edu	37	6	43013354	43013354	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr6:43013354T>C	ENST00000265348.3	-	14	2918	c.2833A>G	c.(2833-2835)Atc>Gtc	p.I945V	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000535468.1_Missense_Mutation_p.I1029V			Q14999	CUL7_HUMAN	cullin 7	945	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.I945V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGGATCTGGATGATGGGCCAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											67	63	64					6																	43013354		2203	4300	6503	43121332	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2833A>G	6.37:g.43013354T>C	ENSP00000265348:p.Ile945Val		43121332	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583263	0.46006	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.60672	0.17;0.17	5.11	0.724	0.18236	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.281791	0.26963	N	0.021604	T	0.28599	0.0708	L	0.43646	1.37	0.80722	D	1	B;B;B	0.19583	0.037;0.018;0.004	B;B;B	0.24269	0.016;0.052;0.042	T	0.13764	-1.0497	10	0.48119	T	0.1	-3.5056	7.9388	0.29946	0.0:0.0762:0.2714:0.6524	.	1029;1029;945	F5H0L1;B4DYZ0;Q14999	.;.;CUL7_HUMAN	V	945;1029	ENSP00000265348:I945V;ENSP00000438788:I1029V	ENSP00000265348:I945V	I	-	1	0	CUL7	43121332	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.113000	0.41902	0.238000	0.21222	0.533000	0.62120	ATC		0.617	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		C	43013354	T	C	43013354	3	2	137	1	0	0	0	0	1	0	0	0	4060	1464	51	4	2315	4	CUL7	6	43013354	Missense_Mutation	SNP	T	TCGA-13-1492-01A-01D-0472-08	389947	43013354	128101713	14	7493											
PRSS35	167681	broad.mit.edu	37	6	84233321	84233321	+	Missense_Mutation	SNP	C	C	T	rs372906386		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr6:84233321C>T	ENST00000369700.3	+	2	338	c.161C>T	c.(160-162)gCt>gTt	p.A54V	PRSS35_ENST00000536636.1_Missense_Mutation_p.A54V	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	54						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.A54V(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAGGCAGATGCTAAGATGATG	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											131	128	129					6																	84233321		2203	4300	6503	84290040	SO:0001583	missense	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.161C>T	6.37:g.84233321C>T	ENSP00000358714:p.Ala54Val		84290040	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	4.159	0.027903	0.08054	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47528	0.84;0.84	5.32	3.45	0.39498	.	0.715124	0.13204	N	0.405685	T	0.22975	0.0555	M	0.62016	1.91	0.09310	N	1	B	0.28713	0.22	B	0.21708	0.036	T	0.12734	-1.0536	10	0.34782	T	0.22	-5.1511	9.6723	0.40019	0.0:0.5145:0.4121:0.0734	.	54	Q8N3Z0	PRS35_HUMAN	V	54	ENSP00000440870:A54V;ENSP00000358714:A54V	ENSP00000358714:A54V	A	+	2	0	PRSS35	84290040	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.749000	0.38319	0.567000	0.29293	0.555000	0.69702	GCT		0.458	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		T	84233321	C	T	84233321	3	4	137	1	0	0	0	0	1	0	0	0	12627	797	28	2	163	2	PRSS35	6	84233321	Missense_Mutation	SNP	C	TCGA-13-1492-01A-01D-0472-08	41219967	84233321	86881746	15	7494											
ABCA13	154664	broad.mit.edu	37	7	48318490	48318490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr7:48318490C>T	ENST00000435803.1	+	18	7723	c.7699C>T	c.(7699-7701)Caa>Taa	p.Q2567*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2567					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q2512*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAAAGTGTTCAAAATCTTGT	0.328																																																1	Substitution - Nonsense(1)	ovary(1)	7											75	80	78					7																	48318490		1820	4051	5871	48289036	SO:0001587	stop_gained	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7699C>T	7.37:g.48318490C>T	ENSP00000411096:p.Gln2567*		48289036	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	48	13.998168	0.99774	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.93	4.04	0.47022	.	0.516062	0.16193	N	0.225282	.	.	.	.	.	.	0.22017	N	0.999415	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	11.2594	0.49074	0.0:0.8151:0.1849:0.0	.	.	.	.	X	2567	.	ENSP00000411096:Q2567X	Q	+	1	0	ABCA13	48289036	0.001000	0.12720	0.012000	0.15200	0.672000	0.39443	0.452000	0.21795	1.058000	0.40530	0.655000	0.94253	CAA		0.328	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48318490	C	T	48318490	4	4	137	1	0	0	0	0	0	1	0	0	31	827	29	2	7598	2	ABCA13	7	48318490	Nonsense_Mutation	SNP	C	TCGA-13-1492-01A-01D-0472-08		48318490	110820173	16	7495											
TFR2	7036	broad.mit.edu	37	7	100218710	100218710	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr7:100218710C>T	ENST00000462107.1	-	19	2463	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	TFR2_ENST00000544242.1_Missense_Mutation_p.D267N|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.D726N			Q9UP52	TFR2_HUMAN	transferrin receptor 2	726					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)	p.D726N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	AACGGGGAGTCGGCTGGCGAC	0.672																																																1	Substitution - Missense(1)	ovary(1)	7											18	21	20					7																	100218710		2151	4237	6388	100056646	SO:0001583	missense	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2176G>A	7.37:g.100218710C>T	ENSP00000420525:p.Asp726Asn		100056646	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096453	0.94197	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.57595	0.39;0.39;0.39	5.39	4.44	0.53790	Transferrin receptor-like, dimerisation domain (3);	0.246278	0.40385	N	0.001113	T	0.54334	0.1852	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.59761	0.863	T	0.55717	-0.8097	10	0.72032	D	0.01	-34.0393	10.8869	0.46972	0.0:0.9026:0.0:0.0974	.	726	Q9UP52	TFR2_HUMAN	N	726;726;267	ENSP00000223051:D726N;ENSP00000420525:D726N;ENSP00000443656:D267N	ENSP00000223051:D726N	D	-	1	0	TFR2	100056646	0.998000	0.40836	0.998000	0.56505	0.957000	0.61999	4.220000	0.58567	2.810000	0.96702	0.650000	0.86243	GAC		0.672	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		T	100218710	C	T	100218710	3	4	137	1	0	0	0	0	1	0	0	0	15811	884	31	1	233	1	TFR2	7	100218710	Missense_Mutation	SNP	C	TCGA-13-1492-01A-01D-0472-08	51900220	100218710	58919953	17	7496											
CUX1	1523	broad.mit.edu	37	7	101842108	101842108	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr7:101842108C>G	ENST00000292535.7	+	16	1959	c.1921C>G	c.(1921-1923)Cta>Gta	p.L641V	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.L652V|CUX1_ENST00000549414.2_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.L539V|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	641					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.L641V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTGAACAGACTATTTCAGGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											126	112	117					7																	101842108		2203	4300	6503	101628828	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1921C>G	7.37:g.101842108C>G	ENSP00000292535:p.Leu641Val		101628828	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429518	0.62844	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000546411	T;T;T	0.57907	0.37;0.37;0.39	5.67	5.67	0.87782	.	0.084010	0.49916	D	0.000134	T	0.48892	0.1525	L	0.46157	1.445	0.80722	D	1	B;B	0.27765	0.188;0.165	B;B	0.26416	0.031;0.069	T	0.35176	-0.9799	10	0.25751	T	0.34	-10.4976	19.1191	0.93355	0.0:1.0:0.0:0.0	.	641;652	P39880;P39880-3	CUX1_HUMAN;.	V	652;641;539	ENSP00000353401:L652V;ENSP00000292535:L641V;ENSP00000450125:L539V	ENSP00000292535:L641V	L	+	1	2	CUX1	101628828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.433000	0.66520	2.837000	0.97791	0.655000	0.94253	CTA		0.468	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		G	101842108	C	G	101842108	3	3	137	1	0	0	0	0	1	0	0	0	4064	564	20	3	2050	3	CUX1	7	101842108	Missense_Mutation	SNP	C	TCGA-13-1492-01A-01D-0472-08	1623398	101842108	57296555	18	7497											
GRM8	2918	broad.mit.edu	37	7	126746620	126746620	+	Silent	SNP	C	C	T			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr7:126746620C>T	ENST00000339582.2	-	3	1465	c.657G>A	c.(655-657)tcG>tcA	p.S219S	GRM8_ENST00000405249.1_Silent_p.S219S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.S219S|GRM8_ENST00000444921.2_Silent_p.S219S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	219					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)	p.S219S(4)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AAGCCAGTGTCGAAACATAAT	0.493										HNSCC(24;0.065)																																						4	Substitution - coding silent(4)	large_intestine(3)|ovary(1)	7											137	119	125					7																	126746620		2203	4300	6503	126533856	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.657G>A	7.37:g.126746620C>T			126533856	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126746620	C	T	126746620	2	4	137	1	0	0	0	0	0	0	0	1	6803	871	31	1		1	GRM8	7	126746620	Silent	SNP	C	TCGA-13-1492-01A-01D-0472-08	24904512	126746620	32392043	19	7498											
SLC37A3	84255	broad.mit.edu	37	7	140048516	140048518	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	AGA	AGA	-	-	AGA	AGA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr7:140048516_140048518delAGA	ENST00000326232.9	-	10	1135_1137	c.932_934delTCT	c.(931-936)ttctgg>tgg	p.F311del	SLC37A3_ENST00000340308.3_In_Frame_Del_p.F311del|SLC37A3_ENST00000447932.2_In_Frame_Del_p.F311del|SLC37A3_ENST00000429996.2_3'UTR	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	311					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.F311del(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					AAGGGGAGCCAGAAGAAGAAGGA	0.493																																					Esophageal Squamous(133;211 1716 4665 11387 37873)											1	Deletion - In frame(1)	ovary(1)	7																																								139694987	SO:0001651	inframe_deletion	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.932_934delTCT	7.37:g.140048522_140048524delAGA	ENSP00000321498:p.Phe311del		139694985	Q6PIU7|Q86SS4|Q9BQG7	In_Frame_Del	DEL	ENST00000326232.9	37	CCDS5859.1																																																																																				0.493	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		-	140048518	AGA	-	140048516	7	5	137	1	0	1	0	1	0	0	0	0	14602	188	7	0	723	0	SLC37A3	7	140048516	In_Frame_Del	DEL	AGA	TCGA-13-1492-01A-01D-0472-08	13301896	140048516	19090147	20	7499											
FAM135B	51059	broad.mit.edu	37	8	139163523	139163523	+	Silent	SNP	G	G	A			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr8:139163523G>A	ENST00000395297.1	-	13	3365	c.3195C>T	c.(3193-3195)ccC>ccT	p.P1065P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1065								p.P1065P(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATGGGTGATGGGAAACAGGG	0.517										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	ovary(2)	8											72	66	68					8																	139163523		2203	4300	6503	139232705	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3195C>T	8.37:g.139163523G>A			139232705	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.517	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139163523	G	A	139163523	2	1	137	1	0	0	0	0	0	0	0	1	5449	1335	47	2		2	FAM135B	8	139163523	Silent	SNP	G	TCGA-13-1492-01A-01D-0472-08		139163523	7200499	21	7500											
FAM166A	401565	broad.mit.edu	37	9	140138237	140138237	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr9:140138237A>T	ENST00000344774.4	-	7	923	c.869T>A	c.(868-870)aTg>aAg	p.M290K		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	290						nucleus (GO:0005634)		p.M290K(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GTTGTCCTGCATGGCTGCGGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	9											162	140	148					9																	140138237		2203	4299	6502	139258058	SO:0001583	missense	401565			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.869T>A	9.37:g.140138237A>T	ENSP00000344729:p.Met290Lys		139258058	A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	A	6.916	0.538706	0.13250	.	.	ENSG00000188163	ENST00000344774	.	.	.	5.24	2.8	0.32819	.	0.269726	0.32134	N	0.006531	T	0.35008	0.0917	L	0.46157	1.445	0.80722	D	1	B	0.29432	0.244	B	0.21917	0.037	T	0.07868	-1.0750	9	0.12430	T	0.62	-10.6004	4.1951	0.10440	0.6883:0.0:0.1624:0.1492	.	290	Q6J272	F166A_HUMAN	K	290	.	ENSP00000344729:M290K	M	-	2	0	FAM166A	139258058	0.003000	0.15002	1.000000	0.80357	0.184000	0.23303	0.390000	0.20768	0.287000	0.22375	0.459000	0.35465	ATG		0.592	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		T	140138237	A	T	140138237	3	4	137	1	0	0	0	0	1	0	0	0	5481	217	8	5	88	5	FAM166A	9	140138237	Missense_Mutation	SNP	A	TCGA-13-1492-01A-01D-0472-08		140138237	1075194	22	7501											
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Frame_Shift_Del	DEL	C	C	-	rs121909219		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	-	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr10:89717672delC	ENST00000371953.3	+	7	2054	c.697delC	c.(697-699)cgafs	p.R234fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	234	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		R -> Q (in a patient with glioma and meningioma; not capable of inducing apoptosis; induced increased cell proliferation; led to high constitutive AKT1 activation which could not be increased further by stimulation with insulin).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	10	GRCh37	CM971277	PTEN	M	rs121909219						155	133	141					10																	89717672		2203	4300	6503	89707652	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697delC	10.37:g.89717672delC	ENSP00000361021:p.Arg234fs		89707652	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89717672	C	-	89717672	7	5	137	1	0	1	0	1	0	0	0	0	12741	528	19	0	723	0	PTEN	10	89717672	Frame_Shift_Del	DEL	C	TCGA-13-1492-01A-01D-0472-08		89717672	45817075	23	7502											
CACNA1C	775	broad.mit.edu	37	12	2622145	2622145	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr12:2622145G>A	ENST00000347598.4	+	9	1385	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	CACNA1C_ENST00000399649.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R462Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R462Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R462Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R462Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	462					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R492Q(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGAAGCCCCGAAACAGTGAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											24	28	27					12																	2622145		2093	4228	6321	2492406	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1385G>A	12.37:g.2622145G>A	ENSP00000266376:p.Arg462Gln		2492406	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022341	0.93462	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	4.43	4.43	0.53597	.	0.814100	0.11428	N	0.565062	D	0.97259	0.9104	M	0.89414	3.03	0.58432	D	0.999999	B;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D	0.89917	0.194;1.0;0.999;0.962;0.999;1.0;0.999;1.0;0.912;0.998;1.0;0.999;0.997;0.999;0.999;0.999;0.999;0.452;1.0;0.999;0.999;1.0;1.0;0.999;0.999	B;D;D;B;D;D;D;D;B;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D	0.83275	0.024;0.988;0.927;0.259;0.934;0.996;0.99;0.996;0.392;0.934;0.996;0.99;0.922;0.996;0.978;0.99;0.975;0.041;0.964;0.95;0.975;0.964;0.996;0.975;0.99	D	0.95985	0.8981	10	0.37606	T	0.19	.	17.6038	0.88032	0.0:0.0:1.0:0.0	.	91;462;459;462;462;462;462;462;462;462;462;462;433;462;462;462;462;462;462;462;462;462;462;462;462	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;462;303	ENSP00000336982:R462Q;ENSP00000382563:R462Q;ENSP00000437936:R462Q;ENSP00000382552:R462Q;ENSP00000382547:R462Q;ENSP00000382506:R462Q;ENSP00000382530:R462Q;ENSP00000382546:R462Q;ENSP00000382500:R462Q;ENSP00000382549:R462Q;ENSP00000266376:R462Q;ENSP00000382515:R462Q;ENSP00000382510:R462Q;ENSP00000341092:R462Q;ENSP00000382537:R462Q;ENSP00000329877:R462Q;ENSP00000382557:R462Q;ENSP00000385724:R462Q;ENSP00000382512:R462Q;ENSP00000382542:R462Q;ENSP00000382526:R462Q;ENSP00000385896:R462Q;ENSP00000382504:R462Q	ENSP00000323129:R303Q	R	+	2	0	CACNA1C	2492406	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.347000	0.97059	2.465000	0.83290	0.655000	0.94253	CGA		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2622145	G	A	2622145	3	1	137	1	0	0	0	0	1	0	0	0	2540	1058	37	1	1527	1	CACNA1C	12	2622145	Missense_Mutation	SNP	G	TCGA-13-1492-01A-01D-0472-08		2622145	131229750	24	7503											
CACNA1C	775	broad.mit.edu	37	12	2774154	2774154	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr12:2774154C>G	ENST00000347598.4	+	37	4540	c.4540C>G	c.(4540-4542)Ctg>Gtg	p.L1514V	CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1453V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1455V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1483V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1494V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1488V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1466V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1491V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1455V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1466V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1486V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1466V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1514	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L1544V(1)|p.L1001V(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTGCCTTCCTGGTAAGCCA	0.572																																																2	Substitution - Missense(2)	ovary(2)	12											55	57	56					12																	2774154		2203	4300	6503	2644415	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4540C>G	12.37:g.2774154C>G	ENSP00000266376:p.Leu1514Val		2644415	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363939	0.61513	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.98163	0.9393	L	0.58510	1.815	0.52501	D	0.999958	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.993;0.999;1.0;0.993;0.999;0.999;0.998;1.0;1.0;0.999;0.999;0.994;0.998;0.999;0.999;0.99;1.0;0.999;0.997;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.994;0.99;0.995;1.0;0.99;0.995;0.995;0.997;0.999;0.999;0.995;0.995;0.966;0.997;0.994;0.998;0.979;1.0;0.995;0.986;0.986;0.995;0.995;0.995;0.986	D	0.97802	1.0245	10	0.87932	D	0	.	8.4515	0.32873	0.0:0.8256:0.0:0.1744	.	157;1488;1463;1514;1466;1466;1466;1483;1494;1466;1486;1466;1426;1514;1466;1466;1466;1455;1453;1455;1455;1466;1466;1466;1466	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	1491;1466;1466;1494;1466;1466;1466;1455;1466;1514;1486;1466;1488;1483;1466;1453;1466;1466;1466;1466;1466;1455;1296	ENSP00000336982:L1491V;ENSP00000382563:L1466V;ENSP00000382552:L1466V;ENSP00000382547:L1494V;ENSP00000382506:L1466V;ENSP00000382530:L1466V;ENSP00000382546:L1466V;ENSP00000382500:L1455V;ENSP00000382549:L1466V;ENSP00000266376:L1514V;ENSP00000382515:L1486V;ENSP00000382510:L1466V;ENSP00000341092:L1488V;ENSP00000382537:L1483V;ENSP00000329877:L1466V;ENSP00000382557:L1453V;ENSP00000385724:L1466V;ENSP00000382512:L1466V;ENSP00000382542:L1466V;ENSP00000382526:L1466V;ENSP00000385896:L1466V;ENSP00000382504:L1455V	ENSP00000323129:L1296V	L	+	1	2	CACNA1C	2644415	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.164000	0.42387	2.391000	0.81399	0.491000	0.48974	CTG		0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		G	2774154	C	G	2774154	3	3	137	1	0	0	0	0	1	0	0	0	2540	680	24	3	4860	3	CACNA1C	12	2774154	Missense_Mutation	SNP	C	TCGA-13-1492-01A-01D-0472-08	152009	2774154	131077741	25	7504											
FGF23	8074	broad.mit.edu	37	12	4479847	4479847	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr12:4479847G>A	ENST00000237837.1	-	3	563	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	140					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R140W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CTCTTCGCCCGGCCCAGACTG	0.577																																																1	Substitution - Missense(1)	ovary(1)	12											99	99	99					12																	4479847		2203	4300	6503	4350108	SO:0001583	missense	8074			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.418C>T	12.37:g.4479847G>A	ENSP00000237837:p.Arg140Trp		4350108	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507600	0.44558	.	.	ENSG00000118972	ENST00000237837	D	0.88354	-2.37	4.88	2.83	0.33086	.	0.283234	0.40908	N	0.001000	D	0.90724	0.7089	M	0.78637	2.42	0.19300	N	0.999971	D	0.69078	0.997	P	0.54590	0.756	D	0.83433	0.0039	10	0.72032	D	0.01	-7.1689	7.5214	0.27631	0.0:0.1252:0.4131:0.4617	.	140	Q9GZV9	FGF23_HUMAN	W	140	ENSP00000237837:R140W	ENSP00000237837:R140W	R	-	1	2	FGF23	4350108	0.994000	0.37717	0.709000	0.30452	0.253000	0.25986	3.197000	0.51028	1.229000	0.43630	0.549000	0.68633	CGG		0.577	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			A	4479847	G	A	4479847	3	1	137	1	0	0	0	0	1	0	0	0	5852	1115	39	1	341	1	FGF23	12	4479847	Missense_Mutation	SNP	G	TCGA-13-1492-01A-01D-0472-08	1705693	4479847	129372048	26	7505											
AKAP3	10566	broad.mit.edu	37	12	4737304	4737304	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr12:4737304C>A	ENST00000545990.2	-	5	1288	c.764G>T	c.(763-765)aGa>aTa	p.R255I	AKAP3_ENST00000228850.1_Missense_Mutation_p.R255I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	255					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.R255I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCCACCCTCTCTGGCATAATC	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											91	89	90					12																	4737304		2203	4300	6503	4607565	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.764G>T	12.37:g.4737304C>A	ENSP00000440994:p.Arg255Ile		4607565	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	3.957	-0.011021	0.07727	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08193	3.12;3.12	4.32	-5.74	0.02391	A-kinase anchor 110kDa, C-terminal (1);	0.487112	0.18872	N	0.128820	T	0.04227	0.0117	N	0.22421	0.69	0.21897	N	0.999489	P	0.41393	0.748	B	0.38562	0.276	T	0.19353	-1.0308	10	0.56958	D	0.05	-0.5138	6.687	0.23150	0.0:0.4318:0.235:0.3332	.	255	O75969	AKAP3_HUMAN	I	255	ENSP00000228850:R255I;ENSP00000440994:R255I	ENSP00000228850:R255I	R	-	2	0	AKAP3	4607565	0.000000	0.05858	0.015000	0.15790	0.062000	0.15995	-2.143000	0.01297	-1.224000	0.02581	0.655000	0.94253	AGA		0.463	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		A	4737304	C	A	4737304	3	1	137	1	0	0	0	0	1	0	0	0	452	913	32	3	1805	3	AKAP3	12	4737304	Missense_Mutation	SNP	C	TCGA-13-1492-01A-01D-0472-08	257457	4737304	129114591	27	7506											
TEP1	7011	broad.mit.edu	37	14	20836605	20836605	+	Silent	SNP	A	A	G			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr14:20836605A>G	ENST00000262715.5	-	55	7915	c.7875T>C	c.(7873-7875)aaT>aaC	p.N2625N	TEP1_ENST00000556935.1_Silent_p.N2517N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2625					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.N2625N(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTCATTCCCAATTCAGAAAGT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	14											83	76	78					14																	20836605		2203	4300	6503	19906445	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7875T>C	14.37:g.20836605A>G			19906445	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																				0.478	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20836605	A	G	20836605	2	3	137	1	0	0	0	0	0	0	0	1	15759	98	4	4		4	TEP1	14	20836605	Silent	SNP	A	TCGA-13-1492-01A-01D-0472-08		20836605	86512935	28	7507											
DAD1	1603	broad.mit.edu	37	14	23058043	23058044	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	AG	AG	-	-	AG	AG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr14:23058043_23058044delAG	ENST00000250498.4	-	1	131_132	c.20_21delCT	c.(19-21)tctfs	p.S7fs	DAD1_ENST00000543337.1_Frame_Shift_Del_p.S7fs|DAD1_ENST00000538631.1_Frame_Shift_Del_p.S7fs	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	7					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.S7fs*89(1)		large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		GCGAAATGACAGACACTACCGA	0.579																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								22127884	SO:0001589	frameshift_variant	1603			AK223129	CCDS9571.1	14q11.2	2013-03-06			ENSG00000129562	ENSG00000129562			2664	protein-coding gene	gene with protein product	"oligosaccharyltransferase 2 homolog (S. cerevisiae)", "oligosaccharyltransferase subunit 2 (non-catalytic)"	600243					Standard	NM_001344		Approved	OST2	uc001wgl.2	P61803	OTTHUMG00000028685	ENST00000250498.4:c.20_21delCT	14.37:g.23058043_23058044delAG	ENSP00000250498:p.Ser7fs		22127883	D3DS25|O08552|O70364|P46966|P46968|Q6FGA3|Q96GB7	Frame_Shift_Del	DEL	ENST00000250498.4	37	CCDS9571.1																																																																																				0.579	DAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071617.2	NM_001344		-	23058044	AG	-	23058043	7	5	137	1	0	1	0	1	0	0	0	0	4224	175	7	0	328	0	DAD1	14	23058043	Frame_Shift_Del	DEL	AG	TCGA-13-1492-01A-01D-0472-08	2221438	23058043	84291497	29	7508											
ZFYVE26	23503	broad.mit.edu	37	14	68260427	68260427	+	Silent	SNP	C	C	T			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr14:68260427C>T	ENST00000347230.4	-	14	2589	c.2451G>A	c.(2449-2451)ttG>ttA	p.L817L	ZFYVE26_ENST00000555452.1_Silent_p.L817L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	817					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L817L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GATGGGGGTGCAATCTACTGT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	14											117	91	100					14																	68260427		2203	4300	6503	67330180	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2451G>A	14.37:g.68260427C>T			67330180	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																				0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		T	68260427	C	T	68260427	2	4	137	1	0	0	0	0	0	0	0	1	17668	709	25	2		2	ZFYVE26	14	68260427	Silent	SNP	C	TCGA-13-1492-01A-01D-0472-08	45202384	68260427	39089113	30	7509											
ZNF839	55778	broad.mit.edu	37	14	102805457	102805457	+	Silent	SNP	G	G	A	rs201573850	byFrequency	TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr14:102805457G>A	ENST00000558850.1	+	7	1826	c.1476G>A	c.(1474-1476)gtG>gtA	p.V492V	AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000262236.5_Silent_p.V492V|ZNF839_ENST00000559185.1_Silent_p.V492V|ZNF839_ENST00000442396.2_Silent_p.V608V|ZNF839_ENST00000420933.2_3'UTR	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	492							metal ion binding (GO:0046872)	p.V608V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGGCCTCAGTGAAAAGGCCCA	0.562													G|||	3	0.000599042	0	0.0014	5008	,	,		19102	0.002		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	14						G		0,3876		0,0,1938	47	49	49		1824	1.9	0.1	14		49	2,8266		0,2,4132	no	coding-synonymous	ZNF839	NM_018335.3		0,2,6070	AA,AG,GG		0.0242,0.0,0.0165		608/928	102805457	2,12142	1938	4134	6072	101875210	SO:0001819	synonymous_variant	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1476G>A	14.37:g.102805457G>A			101875210	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	CCDS58336.1																																																																																				0.562	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		A	102805457	G	A	102805457	2	1	137	1	0	0	0	0	0	0	0	1	18188	1277	45	2		2	ZNF839	14	102805457	Silent	SNP	G	TCGA-13-1492-01A-01D-0472-08	34545030	102805457	4544083	31	7510											
MAP1A	4130	broad.mit.edu	37	15	43818726	43818726	+	Silent	SNP	C	C	A	rs368338022		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr15:43818726C>A	ENST00000300231.5	+	4	5505	c.5055C>A	c.(5053-5055)ggC>ggA	p.G1685G	MAP1A_ENST00000399453.1_Silent_p.G1685G|MAP1A_ENST00000382031.1_Silent_p.G1923G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1685					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.G1685G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATTGGAGGGGCAGAGAGGATG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	15											52	63	59					15																	43818726		2026	4183	6209	41606018	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5055C>A	15.37:g.43818726C>A			41606018	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	CCDS42031.1																																																																																				0.592	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		A	43818726	C	A	43818726	2	1	137	1	0	0	0	0	0	0	0	1	9227	697	25	3		3	MAP1A	15	43818726	Silent	SNP	C	TCGA-13-1492-01A-01D-0472-08		43818726	58712666	32	7511											
GLDN	342035	broad.mit.edu	37	15	51696682	51696682	+	Missense_Mutation	SNP	G	G	A	rs371728997		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr15:51696682G>A	ENST00000335449.6	+	10	1443	c.1387G>A	c.(1387-1389)Gtc>Atc	p.V463I	GLDN_ENST00000396399.2_Missense_Mutation_p.V339I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	463	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V463I(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGTGCAACACGTCAATACCAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	15						A	ILE/VAL	1,4391	824.9+/-416.5	0,1,2195	174	155	162		1387	2.2	1	15		162	0,8586		0,0,4293	no	missense	GLDN	NM_181789.2	29	0,1,6488	AA,AG,GG		0.0,0.0228,0.0077	benign	463/552	51696682	1,12977	2196	4293	6489	49483974	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1387G>A	15.37:g.51696682G>A	ENSP00000335196:p.Val463Ile		49483974	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	A	1.847	-0.465982	0.04476	2.28E-4	0.0	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88277	-2.36;-2.36	5.71	2.16	0.27623	Olfactomedin-like (3);	0.319503	0.22527	N	0.058890	T	0.57932	0.2087	N	0.00182	-1.905	0.09310	N	0.999998	B	0.13594	0.008	B	0.12156	0.007	T	0.58399	-0.7643	10	0.02654	T	1	.	9.6837	0.40085	0.7409:0.0:0.2591:0.0	.	463	Q6ZMI3	GLDN_HUMAN	I	463;339;339	ENSP00000335196:V463I;ENSP00000379681:V339I	ENSP00000335196:V463I	V	+	1	0	GLDN	49483974	1.000000	0.71417	0.974000	0.42286	0.482000	0.33219	3.564000	0.53791	-0.092000	0.12417	-1.216000	0.01612	GTC		0.483	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		A	51696682	G	A	51696682	3	1	137	1	0	0	0	0	1	0	0	0	6434	1145	40	1	1425	1	GLDN	15	51696682	Missense_Mutation	SNP	G	TCGA-13-1492-01A-01D-0472-08	7877956	51696682	50834710	33	7512											
NARG2	79664	broad.mit.edu	37	15	60734672	60734672	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr15:60734672C>T	ENST00000261520.4	-	12	2602	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	NARG2_ENST00000439632.1_Missense_Mutation_p.E653K	NM_024611.4	NP_078887.2												p.E790K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CGACAAAGTTCACTTTCAGTC	0.318																																																1	Substitution - Missense(1)	ovary(1)	15											90	80	84					15																	60734672		2203	4299	6502	58521964	SO:0001583	missense	79664																														ENST00000261520.4:c.2368G>A	15.37:g.60734672C>T	ENSP00000261520:p.Glu790Lys		58521964		Missense_Mutation	SNP	ENST00000261520.4	37	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105184	0.94245	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.14	5.14	0.70334	NMDA receptor-regulated gene protein 2 (1);	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	M	0.63843	1.955	0.50813	D	0.999898	D	0.89917	1.0	D	0.91635	0.999	T	0.80466	-0.1370	9	0.87932	D	0	-20.9003	18.6104	0.91283	0.0:1.0:0.0:0.0	.	790	Q659A1	NARG2_HUMAN	K	790;653	.	ENSP00000261520:E790K	E	-	1	0	NARG2	58521964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.028000	0.70889	2.377000	0.81083	0.655000	0.94253	GAA		0.318	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			T	60734672	C	T	60734672	3	4	137	1	0	0	0	0	1	0	0	0	10169	835	29	2	600	2	NARG2	15	60734672	Missense_Mutation	SNP	C	TCGA-13-1492-01A-01D-0472-08	9037990	60734672	41796720	34	7513											
SLC12A4	6560	broad.mit.edu	37	16	67995580	67995580	+	Silent	SNP	C	C	T	rs565212919		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr16:67995580C>T	ENST00000316341.3	-	3	380	c.240G>A	c.(238-240)tcG>tcA	p.S80S	SLC12A4_ENST00000537830.2_Silent_p.S74S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Silent_p.S80S|SLC12A4_ENST00000541864.2_Silent_p.S49S|SLC12A4_ENST00000422611.2_Silent_p.S82S|SLC12A4_ENST00000576616.1_Silent_p.S80S|SLC12A4_ENST00000572037.1_Silent_p.S32S	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	80					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.S80S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGAAGAGACGATACCTTTG	0.637													C|||	1	0.000199681	0	0	5008	,	,		20041	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	16											111	100	103					16																	67995580		2198	4300	6498	66553081	SO:0001819	synonymous_variant	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.240G>A	16.37:g.67995580C>T			66553081	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	CCDS10855.1																																																																																				0.637	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		T	67995580	C	T	67995580	2	4	137	1	0	0	0	0	0	0	0	1	14388	523	19	1		1	SLC12A4	16	67995580	Silent	SNP	C	TCGA-13-1492-01A-01D-0472-08		67995580	22359173	35	7514											
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	17											48	46	47					17																	7578370		2203	4300	6503	7519095	SO:0001630	splice_region_variant	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.559+1G>T	17.37:g.7578370C>A			7519095	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578370	C	A	7578370	5	1	137	1	0	0	0	0	0	0	1	0	16381	521	18	3	738	3	TP53	17	7578370	Splice_Site	SNP	C	TCGA-13-1492-01A-01D-0472-08		7578370	73616840	36	7515											
ANKRD5	63926	broad.mit.edu	37	20	10030770	10030770	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr20:10030770T>A	ENST00000378380.3	+	6	1882	c.1553T>A	c.(1552-1554)gTg>gAg	p.V518E	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.V518E	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	518							calcium ion binding (GO:0005509)	p.V518E(1)									GGAATACCTGTGGATATGAAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	20											65	66	66					20																	10030770		2203	4300	6503	9978770	SO:0001583	missense	63926			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1553T>A	20.37:g.10030770T>A	ENSP00000367631:p.Val518Glu		9978770	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518635	0.85495	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.69685	-0.42;-0.42	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.052206	0.85682	D	0.000000	D	0.85492	0.5709	M	0.91459	3.21	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.88482	0.3069	10	0.66056	D	0.02	-1.0533	16.3948	0.83586	0.0:0.0:0.0:1.0	.	518	Q9NU02	ANKR5_HUMAN	E	518	ENSP00000367644:V518E;ENSP00000367631:V518E	ENSP00000367631:V518E	V	+	2	0	ANKRD5	9978770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.154000	0.77437	2.326000	0.78906	0.533000	0.62120	GTG		0.388	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		A	10030770	T	A	10030770	3	1	137	1	0	0	0	0	1	0	0	0	676	1696	59	5	1571	5	ANKRD5	20	10030770	Missense_Mutation	SNP	T	TCGA-13-1492-01A-01D-0472-08		10030770	52994750	37	7516											
DIP2A	23181	broad.mit.edu	37	21	47959829	47959829	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr21:47959829A>G	ENST00000417564.2	+	17	1982	c.1961A>G	c.(1960-1962)cAg>cGg	p.Q654R	DIP2A_ENST00000435722.3_Missense_Mutation_p.Q654R|DIP2A_ENST00000400274.1_Missense_Mutation_p.Q650R|DIP2A_ENST00000466639.1_Missense_Mutation_p.Q611R|DIP2A_ENST00000457905.3_Missense_Mutation_p.Q654R|DIP2A_ENST00000318711.7_Missense_Mutation_p.Q655R|DIP2A_ENST00000427143.2_Missense_Mutation_p.Q590R			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	654					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Q655R(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AACGTCTTCCAGTCCAGAGGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	21											147	156	153					21																	47959829		2127	4231	6358	46784257	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1961A>G	21.37:g.47959829A>G	ENSP00000392066:p.Gln654Arg		46784257	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837985	0.71373	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89	4.64	4.64	0.57946	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.59436	1.845	0.80722	D	1	P;P;D;D;D;P;B	0.69078	0.749;0.805;0.997;0.985;0.985;0.746;0.244	P;P;D;D;D;B;B	0.77557	0.838;0.542;0.99;0.955;0.944;0.43;0.202	T	0.00958	-1.1500	10	0.45353	T	0.12	-18.8509	13.2433	0.60010	1.0:0.0:0.0:0.0	.	655;590;611;590;654;654;654	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4;Q14689-2	.;.;.;.;DIP2A_HUMAN;.;.	R	650;590;655;611;654;611;654;654	ENSP00000383133:Q650R;ENSP00000400528:Q590R;ENSP00000323633:Q655R;ENSP00000393434:Q654R;ENSP00000430249:Q611R;ENSP00000415089:Q654R;ENSP00000392066:Q654R	ENSP00000323633:Q655R	Q	+	2	0	DIP2A	46784257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.090000	0.94144	1.724000	0.51502	0.533000	0.62120	CAG		0.577	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		G	47959829	A	G	47959829	3	3	137	1	0	0	0	0	1	0	0	0	4527	188	7	4	2027	4	DIP2A	21	47959829	Missense_Mutation	SNP	A	TCGA-13-1492-01A-01D-0472-08		47959829	170066	38	7517											
TUBGCP6	85378	broad.mit.edu	37	22	50658083	50658083	+	Silent	SNP	G	G	A	rs528159783		TCGA-13-1492-01A-01D-0472-08	TCGA-13-1492-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb917fd2-fe7b-4675-8af4-d986e3f4cdaf	85153653-fa5d-43da-bcee-6c3ae8ffc931	g.chr22:50658083G>A	ENST00000248846.5	-	18	4409	c.4305C>T	c.(4303-4305)taC>taT	p.Y1435Y	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T1455M|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1435					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.Y1435Y(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACATGGACTCGTAACTGTCCG	0.677																																																1	Substitution - coding silent(1)	ovary(1)	22											68	58	62					22																	50658083		2203	4300	6503	49000210	SO:0001819	synonymous_variant	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4305C>T	22.37:g.50658083G>A			49000210	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	3.708	-0.060082	0.07317	.	.	ENSG00000128159	ENST00000439308	T	0.13538	2.58	5.22	-0.933	0.10431	.	.	.	.	.	T	0.15219	0.0367	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30446	-0.9978	6	0.87932	D	0	.	6.5063	0.22196	0.4588:0.0:0.4261:0.1151	.	.	.	.	M	1455	ENSP00000397387:T1455M	ENSP00000397387:T1455M	T	-	2	0	TUBGCP6	49000210	0.981000	0.34729	0.884000	0.34674	0.062000	0.15995	0.173000	0.16724	-0.048000	0.13401	-0.291000	0.09656	ACG		0.677	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		A	50658083	G	A	50658083	2	1	137	1	0	0	0	0	0	0	0	1	16770	1140	40	1		1	TUBGCP6	22	50658083	Silent	SNP	G	TCGA-13-1492-01A-01D-0472-08		50658083	646483	39	7518											
ABL2	27	broad.mit.edu	37	1	179095523	179095523	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr1:179095523C>T	ENST00000502732.1	-	4	879	c.676G>A	c.(676-678)Gca>Aca	p.A226T	ABL2_ENST00000507173.1_Missense_Mutation_p.A205T|ABL2_ENST00000504405.1_Missense_Mutation_p.A190T|ABL2_ENST00000344730.3_Missense_Mutation_p.A211T|ABL2_ENST00000367623.4_Missense_Mutation_p.A205T|ABL2_ENST00000408940.3_Missense_Mutation_p.A190T|ABL2_ENST00000392043.3_Missense_Mutation_p.A205T|ABL2_ENST00000512653.1_Missense_Mutation_p.A211T|ABL2_ENST00000511413.1_Missense_Mutation_p.A226T	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	226	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.A190T(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGCCATCTGCAGTGGTATTG	0.473			T	ETV6	AML																																		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	1	Substitution - Missense(1)	ovary(1)	1											90	79	83					1																	179095523		2203	4300	6503	177362146	SO:0001583	missense	0			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.676G>A	1.37:g.179095523C>T	ENSP00000427562:p.Ala226Thr		177362146	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911057	0.33721	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.51	-2.56	0.06268	SH2 motif (5);	0.592162	0.15085	N	0.281437	T	0.73799	0.3633	N	0.21545	0.675	0.30449	N	0.775481	B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	T	0.58064	-0.7702	10	0.27082	T	0.32	.	1.706	0.02882	0.1877:0.3352:0.1055:0.3717	.	205;205;226;190;190;205;190;226;211;190;211	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	T	226;190;211;211;190;205;205;226;205	ENSP00000427562:A226T;ENSP00000386152:A190T;ENSP00000339209:A211T;ENSP00000423578:A211T;ENSP00000426831:A190T;ENSP00000356595:A205T;ENSP00000423413:A205T;ENSP00000424697:A226T;ENSP00000375897:A205T	ENSP00000339209:A211T	A	-	1	0	ABL2	177362146	0.094000	0.21725	0.848000	0.33437	0.650000	0.38633	-0.304000	0.08199	-0.479000	0.06813	-0.194000	0.12790	GCA		0.473	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		T	179095523	C	T	179095523	3	4	138	1	0	0	0	0	1	0	0	0	93	710	25	2	2953	2	ABL2	1	179095523	Missense_Mutation	SNP	C	TCGA-13-1494-01A-01W-0545-08		179095523	70155098	1	7519											
BMPR2	659	broad.mit.edu	37	2	203421039	203421039	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr2:203421039T>C	ENST00000374580.4	+	12	3190	c.2651T>C	c.(2650-2652)cTg>cCg	p.L884P	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	884					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.L884P(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GAAGGTGTTCTGGATCGTCTT	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											123	120	121					2																	203421039		2203	4300	6503	203129284	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2651T>C	2.37:g.203421039T>C	ENSP00000363708:p.Leu884Pro		203129284	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057808	0.55325	.	.	ENSG00000204217	ENST00000374580	D	0.90133	-2.62	6.08	6.08	0.98989	.	0.095855	0.44902	D	0.000415	D	0.90542	0.7036	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	D	0.90774	0.4674	10	0.42905	T	0.14	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	884	Q13873	BMPR2_HUMAN	P	884	ENSP00000363708:L884P	ENSP00000363708:L884P	L	+	2	0	BMPR2	203129284	1.000000	0.71417	0.992000	0.48379	0.757000	0.42996	6.193000	0.72075	2.333000	0.79357	0.482000	0.46254	CTG		0.468	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		C	203421039	T	C	203421039	3	2	138	1	0	0	0	0	1	0	0	0	1471	1580	55	4	2697	4	BMPR2	2	203421039	Missense_Mutation	SNP	T	TCGA-13-1494-01A-01W-0545-08		203421039	39778334	2	7520											
ITK	3702	broad.mit.edu	37	5	156672999	156672999	+	Silent	SNP	G	G	A			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr5:156672999G>A	ENST00000422843.3	+	15	1775	c.1623G>A	c.(1621-1623)gtG>gtA	p.V541V	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V541V(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AGTCCGATGTGTGGTCATTTG	0.527			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - coding silent(1)	ovary(1)	5											188	177	181					5																	156672999		2203	4300	6503	156605577	SO:0001819	synonymous_variant	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1623G>A	5.37:g.156672999G>A			156605577	B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	CCDS4336.1																																																																																				0.527	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			A	156672999	G	A	156672999	2	1	138	1	0	0	0	0	0	0	0	1	7909	1364	48	2		2	ITK	5	156672999	Silent	SNP	G	TCGA-13-1494-01A-01W-0545-08		156672999	24242261	3	7521											
IKBKAP	8518	broad.mit.edu	37	9	111651666	111651666	+	Silent	SNP	C	C	G			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr9:111651666C>G	ENST00000374647.5	-	29	3475	c.3168G>C	c.(3166-3168)ctG>ctC	p.L1056L	IKBKAP_ENST00000467959.1_5'UTR|IKBKAP_ENST00000537196.1_Silent_p.L707L	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1056					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.L1056L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTGCTCAACCAGCTTTCCTG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	9											135	129	131					9																	111651666		2203	4300	6503	110691487	SO:0001819	synonymous_variant	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3168G>C	9.37:g.111651666C>G			110691487	Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	CCDS6773.1																																																																																				0.418	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			G	111651666	C	G	111651666	2	3	138	1	0	0	0	0	0	0	0	1	7610	581	21	3		3	IKBKAP	9	111651666	Silent	SNP	C	TCGA-13-1494-01A-01W-0545-08		111651666	29561765	4	7522											
CSGALNACT2	55454	broad.mit.edu	37	10	43662538	43662538	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr10:43662538C>A	ENST00000374466.3	+	6	1581	c.1246C>A	c.(1246-1248)Cag>Aag	p.Q416K		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	416					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.Q416K(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCTGTGGAGCAGCAGCTGGT	0.373																																																1	Substitution - Missense(1)	ovary(1)	10											63	59	60					10																	43662538		2203	4300	6503	42982544	SO:0001583	missense	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1246C>A	10.37:g.43662538C>A	ENSP00000363590:p.Gln416Lys		42982544	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550601	0.86127	.	.	ENSG00000169826	ENST00000374466	T	0.14516	2.5	5.83	5.83	0.93111	.	0.239200	0.46442	D	0.000296	T	0.19805	0.0476	M	0.63843	1.955	0.80722	D	1	B	0.19445	0.036	B	0.18871	0.023	T	0.02512	-1.1148	10	0.30078	T	0.28	-13.794	20.1141	0.97919	0.0:1.0:0.0:0.0	.	416	Q8N6G5	CGAT2_HUMAN	K	416	ENSP00000363590:Q416K	ENSP00000363590:Q416K	Q	+	1	0	CSGALNACT2	42982544	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.554000	0.67294	2.757000	0.94681	0.591000	0.81541	CAG		0.373	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		A	43662538	C	A	43662538	3	1	138	1	0	0	0	0	1	0	0	0	3939	711	25	3	1264	3	CSGALNACT2	10	43662538	Missense_Mutation	SNP	C	TCGA-13-1494-01A-01W-0545-08		43662538	91872209	5	7523											
COL17A1	1308	broad.mit.edu	37	10	105799749	105799749	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr10:105799749C>A	ENST00000353479.5	-	41	3060	c.2770G>T	c.(2770-2772)Ggc>Tgc	p.G924C	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	924	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G924C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTCTGGGGCCTGGGGGACCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	10											90	83	85					10																	105799749		2203	4300	6503	105789739	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2770G>T	10.37:g.105799749C>A	ENSP00000340937:p.Gly924Cys		105789739	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791167	0.70452	.	.	ENSG00000065618	ENST00000353479	D	0.84442	-1.85	4.88	4.88	0.63580	.	0.000000	0.38326	N	0.001727	D	0.94716	0.8295	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96063	0.9040	10	0.87932	D	0	-10.1577	13.5247	0.61589	0.0:1.0:0.0:0.0	.	924	Q9UMD9	COHA1_HUMAN	C	924	ENSP00000340937:G924C	ENSP00000340937:G924C	G	-	1	0	COL17A1	105789739	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.748000	0.55142	2.263000	0.75096	0.491000	0.48974	GGC		0.562	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		A	105799749	C	A	105799749	3	1	138	1	0	0	0	0	1	0	0	0	3674	681	24	3	1787	3	COL17A1	10	105799749	Missense_Mutation	SNP	C	TCGA-13-1494-01A-01W-0545-08	62137211	105799749	29734998	6	7524											
NUP37	79023	broad.mit.edu	37	12	102512173	102512173	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr12:102512173T>C	ENST00000552283.1	-	2	263	c.124A>G	c.(124-126)Aat>Gat	p.N42D	PARPBP_ENST00000537257.1_5'Flank|PARPBP_ENST00000541394.1_5'Flank|PARPBP_ENST00000358383.5_5'Flank|PARPBP_ENST00000543784.1_5'Flank|PARPBP_ENST00000378128.3_5'Flank|PARPBP_ENST00000327680.2_5'Flank|PARPBP_ENST00000392911.2_5'Flank|NUP37_ENST00000251074.1_Missense_Mutation_p.N42D|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	42					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.N42D(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						ACCACATAATTATTGCCACCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	12											243	217	226					12																	102512173		2203	4300	6503	101036303	SO:0001583	missense	79023			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"WD repeat domain containing"	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.124A>G	12.37:g.102512173T>C	ENSP00000448054:p.Asn42Asp		101036303	Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576517	0.45902	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744;ENST00000550459	T;T;T	0.30448	1.53;1.53;2.72	5.55	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.186148	0.56097	D	0.000022	T	0.16854	0.0405	L	0.34521	1.04	0.33733	D	0.618423	P;B	0.38922	0.651;0.055	B;B	0.30401	0.115;0.021	T	0.18209	-1.0344	10	0.02654	T	1	-18.2959	11.9148	0.52759	0.0:0.0:0.2755:0.7245	.	42;42	B4DKV8;Q8NFH4	.;NUP37_HUMAN	D	42	ENSP00000448054:N42D;ENSP00000251074:N42D;ENSP00000448086:N42D	ENSP00000251074:N42D	N	-	1	0	NUP37	101036303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.786000	0.47790	0.900000	0.36469	0.528000	0.53228	AAT		0.398	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		C	102512173	T	C	102512173	3	2	138	1	0	0	0	0	1	0	0	0	10764	1754	61	4	892	4	NUP37	12	102512173	Missense_Mutation	SNP	T	TCGA-13-1494-01A-01W-0545-08		102512173	31339722	7	7525											
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr17:7579374C>A	ENST00000269305.4	-	4	502	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000420246.2_Missense_Mutation_p.G105C|TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C|TP53_ENST00000455263.2_Missense_Mutation_p.G105C|TP53_ENST00000574684.1_5'Flank	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	CCGTAGCTGCCCTGGTAGGTT	0.627		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"	31	Deletion - Frameshift(12)|Substitution - Missense(8)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(1)	ovary(6)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(3)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	17	GRCh37	CM043949	TP53	M							55	55	55					17																	7579374		2203	4300	6503	7520099	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.313G>T	17.37:g.7579374C>A	ENSP00000269305:p.Gly105Cys		7520099	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500135	0.64298	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.75	4.75	0.60458	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	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.995;0.998;1.0;1.0;0.999;1.0	D	0.96097	0.9066	10	0.87932	D	0	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	105	ENSP00000410739:G105C;ENSP00000352610:G105C;ENSP00000269305:G105C;ENSP00000398846:G105C;ENSP00000391127:G105C;ENSP00000391478:G105C;ENSP00000424104:G105C;ENSP00000426252:G105C	ENSP00000269305:G105C	G	-	1	0	TP53	7520099	1.000000	0.71417	0.206000	0.23566	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7579374	C	A	7579374	3	1	138	1	0	0	0	0	1	0	0	0	16381	623	22	3	989	3	TP53	17	7579374	Missense_Mutation	SNP	C	TCGA-13-1494-01A-01W-0545-08		7579374	73615836	8	7526											
BCL2L13	23786	broad.mit.edu	37	22	18209790	18209790	+	Silent	SNP	C	C	T			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr22:18209790C>T	ENST00000317582.5	+	7	1295	c.948C>T	c.(946-948)ccC>ccT	p.P316P	BCL2L13_ENST00000538149.1_Silent_p.P192P|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000543133.1_Silent_p.P154P|BCL2L13_ENST00000337612.5_Silent_p.P154P|BCL2L13_ENST00000355028.3_3'UTR	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	316	Glu-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.P316P(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		AAGAGGTGCCCGAGGGCATGG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	22											51	50	50					22																	18209790		2203	4300	6503	16589790	SO:0001819	synonymous_variant	23786			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.948C>T	22.37:g.18209790C>T			16589790	B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Silent	SNP	ENST00000317582.5	37	CCDS13746.1																																																																																				0.537	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		T	18209790	C	T	18209790	2	4	138	1	0	0	0	0	0	0	0	1	1371	639	23	1		1	BCL2L13	22	18209790	Silent	SNP	C	TCGA-13-1494-01A-01W-0545-08		18209790	33094776	9	7527											
STARD8	9754	broad.mit.edu	37	X	67937370	67937370	+	Missense_Mutation	SNP	G	G	A	rs140071140	byFrequency	TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chrX:67937370G>A	ENST00000252336.6	+	5	746	c.374G>A	c.(373-375)cGt>cAt	p.R125H	STARD8_ENST00000374599.3_Missense_Mutation_p.R205H|STARD8_ENST00000374597.3_Missense_Mutation_p.R125H	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	125					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.R125H(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AAGCGCCATCGTAACCGTAGC	0.622													g|||	1	0.000264901	0	0	3775	,	,		13945	0		0.001	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(2)	X							HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	67	57	60		614,374,374	0.4	0	X	dbSNP_134	60	3,6725		0,3,2425,1872	yes	missense,missense,missense	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	29,29,29	0,3,4057,2443	AA,AG,GG,G		0.0446,0.0,0.0284	benign,benign,benign	205/1104,125/1024,125/1024	67937370	3,10560	2203	4300	6503	67854095	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.374G>A	X.37:g.67937370G>A	ENSP00000252336:p.Arg125His		67854095	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	2	0.0012055455093429777	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	6.479	0.456537	0.12283	0.0	4.46E-4	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10860	2.83;2.89;2.83	4.39	0.403	0.16350	.	0.907784	0.09385	N	0.809409	T	0.09291	0.0229	L	0.37850	1.14	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.34304	-0.9834	10	0.62326	D	0.03	.	7.5428	0.27748	0.5995:0.0:0.4005:0.0	.	205;125	Q92502-2;Q92502	.;STAR8_HUMAN	H	125;205;125	ENSP00000252336:R125H;ENSP00000363727:R205H;ENSP00000363725:R125H	ENSP00000252336:R125H	R	+	2	0	STARD8	67854095	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	0.441000	0.21611	-0.267000	0.09325	0.597000	0.82753	CGT		0.622	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		A	67937370	G	A	67937370	3	1	138	1	0	0	0	0	1	0	0	0	15265	1145	40	1	636	1	STARD8	23	67937370	Missense_Mutation	SNP	G	TCGA-13-1494-01A-01W-0545-08		67937370	87333190	10	7528											
PDPN	10630	broad.mit.edu	37	1	13936939	13936939	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr1:13936939G>C	ENST00000509009.1	+	3	288	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	PDPN_ENST00000513143.1_Missense_Mutation_p.E45Q|PDPN_ENST00000376061.4_Missense_Mutation_p.E45Q|PDPN_ENST00000475043.1_Missense_Mutation_p.E45Q|PDPN_ENST00000376057.4_Missense_Mutation_p.E163Q|PDPN_ENST00000487038.1_Missense_Mutation_p.E45Q|PDPN_ENST00000294489.6_Missense_Mutation_p.E163Q					podoplanin									p.E163Q(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GCCAACTTCAGAAAGCACAGT	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											129	117	121					1																	13936939		2203	4300	6503	13809526	SO:0001583	missense	10630			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.244G>C	1.37:g.13936939G>C	ENSP00000422977:p.Glu82Gln		13809526		Missense_Mutation	SNP	ENST00000509009.1	37		.	.	.	.	.	.	.	.	.	.	G	13.04	2.116999	0.37339	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	4.38	1.45	0.22620	.	0.809568	0.10667	N	0.648002	T	0.46521	0.1397	L	0.58101	1.795	0.09310	N	1	D;D;D;D	0.63880	0.986;0.993;0.991;0.981	P;P;P;P	0.61070	0.801;0.883;0.858;0.858	T	0.24657	-1.0154	10	0.49607	T	0.09	-20.2713	4.714	0.12886	0.1966:0.1784:0.625:0.0	.	87;45;163;163	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	Q	163;163;154;82;45;45;45;45	ENSP00000294489:E163Q;ENSP00000365225:E163Q;ENSP00000426302:E154Q;ENSP00000422977:E82Q;ENSP00000365229:E45Q;ENSP00000425304:E45Q;ENSP00000427537:E45Q;ENSP00000426063:E45Q	ENSP00000294489:E163Q	E	+	1	0	PDPN	13809526	0.002000	0.14202	0.001000	0.08648	0.105000	0.19272	1.170000	0.31883	0.359000	0.24239	0.650000	0.86243	GAA		0.507	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		C	13936939	G	C	13936939	3	2	139	1	0	0	0	0	1	0	0	0	11688	943	33	3	497	3	PDPN	1	13936939	Missense_Mutation	SNP	G	TCGA-13-1495-01A-01W-0545-08		13936939	235313682	1	7529											
FMO5	2330	broad.mit.edu	37	1	146672824	146672824	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr1:146672824T>G	ENST00000254090.4	-	7	1481	c.1093A>C	c.(1093-1095)Act>Cct	p.T365P	RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.T365P|RP11-337C18.10_ENST00000606856.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	365						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.T365P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATTGCAAGAGTTGGCCTTTCC	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											120	118	119					1																	146672824		2203	4300	6503	145139448	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1093A>C	1.37:g.146672824T>G	ENSP00000254090:p.Thr365Pro		145139448	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	26.5	4.740133	0.89573	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.58797	0.31;0.31	6.17	6.17	0.99709	.	0.045428	0.85682	D	0.000000	T	0.81612	0.4859	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87739	0.2584	10	0.87932	D	0	-26.6292	14.7743	0.69713	0.0:0.0:0.0:1.0	.	365;365	P49326;C9JJD1	FMO5_HUMAN;.	P	365	ENSP00000416011:T365P;ENSP00000254090:T365P	ENSP00000254090:T365P	T	-	1	0	FMO5	145139448	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.024000	0.88770	2.371000	0.80710	0.533000	0.62120	ACT		0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		G	146672824	T	G	146672824	3	3	139	1	0	0	0	0	1	0	0	0	5958	1725	60	5	663	5	FMO5	1	146672824	Missense_Mutation	SNP	T	TCGA-13-1495-01A-01W-0545-08	132735885	146672824	102577797	2	7530											
FCRL2	79368	broad.mit.edu	37	1	157718737	157718737	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr1:157718737G>A	ENST00000361516.3	-	9	1369	c.1321C>T	c.(1321-1323)Cca>Tca	p.P441S	FCRL2_ENST00000368181.4_Missense_Mutation_p.P157S|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	441					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.P441S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGAGGATTTGGCCTGGAAGCC	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											88	88	88					1																	157718737		2203	4300	6503	155985361	SO:0001583	missense	79368			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1321C>T	1.37:g.157718737G>A	ENSP00000355157:p.Pro441Ser		155985361	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877472	0.17395	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181	T;T	0.21191	2.02;3.55	4.03	-3.45	0.04781	.	.	.	.	.	T	0.02418	0.0074	L	0.28504	0.86	0.09310	N	1	B;B;B	0.24823	0.0;0.0;0.112	B;B;B	0.20384	0.005;0.003;0.029	T	0.43829	-0.9367	9	0.10111	T	0.7	.	1.0584	0.01595	0.2851:0.2847:0.2911:0.139	.	157;441;188	Q96LA5-5;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	S	157;441;157	ENSP00000355157:P441S;ENSP00000357163:P157S	ENSP00000292389:P157S	P	-	1	0	FCRL2	155985361	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.430000	0.06973	-0.862000	0.04089	-0.126000	0.14955	CCA		0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		A	157718737	G	A	157718737	3	1	139	1	0	0	0	0	1	0	0	0	5795	1203	42	2	221	2	FCRL2	1	157718737	Missense_Mutation	SNP	G	TCGA-13-1495-01A-01W-0545-08	11045913	157718737	91531884	3	7531											
GPR113	165082	broad.mit.edu	37	2	26533688	26533688	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr2:26533688C>G	ENST00000311519.1	-	11	2907	c.2908G>C	c.(2908-2910)Ggg>Cgg	p.G970R	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.G771R|GPR113_ENST00000421160.2_Missense_Mutation_p.G901R|GPR113_ENST00000541401.1_Missense_Mutation_p.G573R	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	970					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G771R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGATCACCCCCAGCAGAGCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	2											34	34	34					2																	26533688		2203	4300	6503	26387192	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2908G>C	2.37:g.26533688C>G	ENSP00000307831:p.Gly970Arg		26387192	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456671	0.43634	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.78	4.9	0.64082	GPCR, family 2-like (1);	.	.	.	.	T	0.20577	0.0495	N	0.13235	0.315	0.80722	D	1	B;B;B;B	0.16396	0.002;0.003;0.0;0.017	B;B;B;B	0.24541	0.02;0.054;0.007;0.03	T	0.04537	-1.0944	9	0.54805	T	0.06	-15.8916	11.8628	0.52476	0.0:0.9164:0.0:0.0836	.	901;771;970;573	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	R	573;771;901;970	ENSP00000445729:G573R;ENSP00000327396:G771R;ENSP00000388537:G901R;ENSP00000307831:G970R	ENSP00000307831:G970R	G	-	1	0	GPR113	26387192	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	0.796000	0.26986	2.734000	0.93682	0.650000	0.86243	GGG		0.582	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		G	26533688	C	G	26533688	3	3	139	1	0	0	0	0	1	0	0	0	6630	623	22	3	432	3	GPR113	2	26533688	Missense_Mutation	SNP	C	TCGA-13-1495-01A-01W-0545-08		26533688	216665685	4	7532											
SETMAR	6419	broad.mit.edu	37	3	4354990	4354990	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr3:4354990G>A	ENST00000358065.4	+	2	632	c.565G>A	c.(565-567)Gac>Aac	p.D189N	SETMAR_ENST00000430981.1_Missense_Mutation_p.D189N|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	189	Histone-lysine N-methyltransferase.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)	p.D176N(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		AACAAAATCCGACTCCAATTA	0.363								Chromatin Structure																																								1	Substitution - Missense(1)	ovary(1)	3											63	67	65					3																	4354990		2203	4300	6503	4329990	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.565G>A	3.37:g.4354990G>A	ENSP00000373354:p.Asp189Asn		4329990	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	G	8.868	0.948610	0.18356	.	.	ENSG00000170364	ENST00000358065;ENST00000430981	T;T	0.80994	-1.44;-1.44	4.91	4.91	0.64330	SET domain (3);	.	.	.	.	T	0.81536	0.4843	L	0.46670	1.46	0.27400	N	0.95486	D;D	0.61697	0.99;0.969	P;P	0.53809	0.735;0.559	T	0.74987	-0.3476	9	0.87932	D	0	.	9.9868	0.41846	0.0779:0.1398:0.7823:0.0	.	176;189	Q53H47;C9JHK2	SETMR_HUMAN;.	N	189	ENSP00000373354:D189N;ENSP00000403000:D189N	ENSP00000373354:D189N	D	+	1	0	SETMAR	4329990	1.000000	0.71417	0.027000	0.17364	0.003000	0.03518	5.172000	0.65003	2.259000	0.74868	0.460000	0.39030	GAC		0.363	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		A	4354990	G	A	4354990	3	1	139	1	0	0	0	0	1	0	0	0	14143	1058	37	1	571	1	SETMAR	3	4354990	Missense_Mutation	SNP	G	TCGA-13-1495-01A-01W-0545-08		4354990	193667440	5	7533											
LRRC3B	116135	broad.mit.edu	37	3	26751758	26751758	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr3:26751758A>G	ENST00000396641.2	+	2	1187	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Missense_Mutation_p.K199E|LRRC3B_ENST00000456208.2_Missense_Mutation_p.K199E	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	199						integral component of membrane (GO:0016021)		p.K199E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TAACCTCCCTAAAAAAACTAC	0.468																																																1	Substitution - Missense(1)	ovary(1)	3											71	68	69					3																	26751758		2203	4300	6503	26726762	SO:0001583	missense	116135			AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.595A>G	3.37:g.26751758A>G	ENSP00000379880:p.Lys199Glu		26726762	Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118388	0.56505	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	T;T;T	0.59083	0.29;0.29;0.29	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	L	0.54323	1.7	0.80722	D	1	P	0.37781	0.608	B	0.39339	0.297	T	0.60865	-0.7178	10	0.59425	D	0.04	-18.4784	16.0034	0.80327	1.0:0.0:0.0:0.0	.	199	Q96PB8	LRC3B_HUMAN	E	199	ENSP00000379880:K199E;ENSP00000406370:K199E;ENSP00000394940:K199E	ENSP00000379880:K199E	K	+	1	0	LRRC3B	26726762	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	5.790000	0.69038	2.371000	0.80710	0.533000	0.62120	AAA		0.468	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		G	26751758	A	G	26751758	3	3	139	1	0	0	0	0	1	0	0	0	8996	363	13	4	597	4	LRRC3B	3	26751758	Missense_Mutation	SNP	A	TCGA-13-1495-01A-01W-0545-08	22396768	26751758	171270672	6	7534											
SI	6476	broad.mit.edu	37	3	164741407	164741407	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr3:164741407G>T	ENST00000264382.3	-	26	3112	c.3050C>A	c.(3049-3051)aCt>aAt	p.T1017N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1017	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.T1017N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CACACGAAGAGTTGAGATGGG	0.398										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	ovary(1)	3											132	125	127					3																	164741407		2203	4300	6503	166224101	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3050C>A	3.37:g.164741407G>T	ENSP00000264382:p.Thr1017Asn		166224101	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701958	0.30232	.	.	ENSG00000090402	ENST00000264382	T	0.13538	2.58	5.19	2.25	0.28309	Glycoside hydrolase-type carbohydrate-binding (1);	0.541896	0.19106	N	0.122561	T	0.06050	0.0157	N	0.12569	0.235	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41016	-0.9532	10	0.15066	T	0.55	.	6.1707	0.20416	0.1447:0.0:0.5897:0.2656	.	1017	P14410	SUIS_HUMAN	N	1017	ENSP00000264382:T1017N	ENSP00000264382:T1017N	T	-	2	0	SI	166224101	0.007000	0.16637	0.160000	0.22671	0.976000	0.68499	0.418000	0.21230	0.739000	0.32628	0.655000	0.94253	ACT		0.398	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		T	164741407	G	T	164741407	3	4	139	1	0	0	0	0	1	0	0	0	14300	1029	36	3	2525	3	SI	3	164741407	Missense_Mutation	SNP	G	TCGA-13-1495-01A-01W-0545-08	137989649	164741407	33281023	7	7535											
PPARGC1A	10891	broad.mit.edu	37	4	23816064	23816064	+	Missense_Mutation	SNP	C	C	T	rs146256421		TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr4:23816064C>T	ENST00000264867.2	-	8	1161	c.1042G>A	c.(1042-1044)Ggg>Agg	p.G348R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	348					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.G348R(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGCTCCGGCCCTTTCTTGGTG	0.532																																					Esophageal Squamous(29;694 744 13796 34866 44181)											1	Substitution - Missense(1)	ovary(1)	4						C	ARG/GLY	0,4406		0,0,2203	138	140	139		1042	5.2	1	4	dbSNP_134	139	2,8598	1.2+/-3.3	0,2,4298	no	missense	PPARGC1A	NM_013261.3	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	348/799	23816064	2,13004	2203	4300	6503	23425162	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1042G>A	4.37:g.23816064C>T	ENSP00000264867:p.Gly348Arg		23425162	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840808	0.71488	0.0	2.33E-4	ENSG00000109819	ENST00000264867	T	0.23552	1.9	6.06	5.22	0.72569	.	0.088347	0.85682	D	0.000000	T	0.45558	0.1348	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.11743	-1.0575	10	0.27082	T	0.32	-10.5368	14.8026	0.69926	0.0:0.9316:0.0:0.0684	.	348	Q9UBK2	PRGC1_HUMAN	R	348	ENSP00000264867:G348R	ENSP00000264867:G348R	G	-	1	0	PPARGC1A	23425162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.474000	0.60203	2.880000	0.98712	0.650000	0.86243	GGG		0.532	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		T	23816064	C	T	23816064	3	4	139	1	0	0	0	0	1	0	0	0	12300	681	24	2	1378	2	PPARGC1A	4	23816064	Missense_Mutation	SNP	C	TCGA-13-1495-01A-01W-0545-08		23816064	167338212	8	7536											
SEC31A	22872	broad.mit.edu	37	4	83770050	83770050	+	Silent	SNP	C	C	T	rs145039719	byFrequency	TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr4:83770050C>T	ENST00000395310.2	-	20	2591	c.2409G>A	c.(2407-2409)ccG>ccA	p.P803P	SEC31A_ENST00000505984.1_Silent_p.P764P|SEC31A_ENST00000432794.1_Silent_p.P803P|SEC31A_ENST00000448323.1_Silent_p.P803P|SEC31A_ENST00000264405.5_Silent_p.P536P|SEC31A_ENST00000508502.1_Silent_p.P803P|SEC31A_ENST00000505472.1_Silent_p.P803P|SEC31A_ENST00000513858.1_Silent_p.P764P|SEC31A_ENST00000326950.5_Silent_p.P764P|SEC31A_ENST00000509142.1_Silent_p.P803P|SEC31A_ENST00000508479.1_Silent_p.P803P|SEC31A_ENST00000355196.2_Silent_p.P803P|SEC31A_ENST00000311785.7_Silent_p.P803P|SEC31A_ENST00000348405.4_Silent_p.P764P|SEC31A_ENST00000500777.2_Silent_p.P764P|SEC31A_ENST00000443462.2_Silent_p.P798P	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	803	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.P803P(1)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTTCTCGTACGGAATTTTAG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	4						C	,,,,,	2,4404	4.2+/-10.8	0,2,2201	133	123	127		2409,2409,2409,2394,2409,2292	-3.6	0.2	4	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEC31A	NM_001077206.2,NM_001077207.2,NM_001077208.2,NM_001191049.1,NM_014933.3,NM_016211.3	,,,,,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,,,,,	803/1107,803/1221,803/1206,798/1201,803/1221,764/1182	83770050	3,13003	2203	4300	6503	83989074	SO:0001819	synonymous_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2409G>A	4.37:g.83770050C>T			83989074	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.286091	0.01387	4.54E-4	1.16E-4	ENSG00000138674	ENST00000507828	.	.	.	5.48	-3.61	0.04556	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.39553	D	0.969001	.	.	.	.	.	.	T	0.36986	-0.9725	4	.	.	.	-11.1793	0.7779	0.01035	0.3696:0.101:0.215:0.3145	.	.	.	.	I	420	.	.	V	-	1	0	SEC31A	83989074	0.001000	0.12720	0.168000	0.22838	0.040000	0.13550	-2.069000	0.01381	-0.475000	0.06852	-2.017000	0.00434	GTA		0.478	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		T	83770050	C	T	83770050	2	4	139	1	0	0	0	0	0	0	0	1	14001	523	19	1		1	SEC31A	4	83770050	Silent	SNP	C	TCGA-13-1495-01A-01W-0545-08	59953986	83770050	107384226	9	7537											
DCHS2	54798	broad.mit.edu	37	4	155219030	155219030	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr4:155219030C>G	ENST00000357232.4	-	18	5070	c.5071G>C	c.(5071-5073)Ggg>Cgg	p.G1691R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1691	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1691R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCACGAGCCCTTTATACAGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	4											76	76	76					4																	155219030		2203	4300	6503	155438480	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5071G>C	4.37:g.155219030C>G	ENSP00000349768:p.Gly1691Arg		155438480	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284501	0.40394	.	.	ENSG00000197410	ENST00000357232	T	0.53206	0.63	5.82	4.91	0.64330	Cadherin (3);Cadherin-like (1);	0.264534	0.31233	N	0.008005	T	0.59891	0.2227	L	0.56124	1.755	0.80722	D	1	D	0.61080	0.989	P	0.60068	0.868	T	0.52124	-0.8617	10	0.25106	T	0.35	.	17.6482	0.88154	0.1313:0.8686:0.0:0.0	.	1691	Q6V1P9	PCD23_HUMAN	R	1691	ENSP00000349768:G1691R	ENSP00000349768:G1691R	G	-	1	0	DCHS2	155438480	0.057000	0.20700	0.063000	0.19743	0.069000	0.16628	3.113000	0.50376	2.765000	0.95021	0.650000	0.86243	GGG		0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155219030	C	G	155219030	3	3	139	1	0	0	0	0	1	0	0	0	4288	681	24	3	3711	3	DCHS2	4	155219030	Missense_Mutation	SNP	C	TCGA-13-1495-01A-01W-0545-08	71448980	155219030	35935246	10	7538											
TRIM7	81786	broad.mit.edu	37	5	180627010	180627010	+	Silent	SNP	C	C	T	rs200756291		TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr5:180627010C>T	ENST00000274773.7	-	3	751	c.690G>A	c.(688-690)caG>caA	p.Q230Q	CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000422067.2_Silent_p.Q22Q|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000393319.3_Silent_p.Q48Q|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000361809.3_Silent_p.Q22Q|TRIM7_ENST00000504241.1_5'Flank|TRIM7_ENST00000393315.1_Silent_p.Q22Q|CTC-338M12.6_ENST00000514784.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	230						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q230Q(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GCCGACCCTCCTGCTCCACCA	0.622													C|||	1	0.000199681	0	0.0014	5008	,	,		19912	0		0	False		,,,				2504	0				Esophageal Squamous(128;2258 2308 35507 48647)											1	Substitution - coding silent(1)	ovary(1)	5											77	71	73					5																	180627010		2203	4300	6503	180559616	SO:0001819	synonymous_variant	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.690G>A	5.37:g.180627010C>T			180559616	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	ENST00000274773.7	37	CCDS4462.1																																																																																				0.622	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		T	180627010	C	T	180627010	2	4	139	1	0	0	0	0	0	0	0	1	16543	680	24	2		2	TRIM7	5	180627010	Silent	SNP	C	TCGA-13-1495-01A-01W-0545-08		180627010	288250	11	7539											
HLA-DPB1	3115	broad.mit.edu	37	6	33043849	33043849	+	Silent	SNP	C	C	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr6:33043849C>A	ENST00000418931.2	+	1	147	c.31C>A	c.(31-33)Cgg>Agg	p.R11R	HLA-DPA1_ENST00000419277.1_Intron|HLA-DPA1_ENST00000428995.1_5'Flank|HLA-DPB1_ENST00000535465.1_Silent_p.R11R|HLA-DPA1_ENST00000463066.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	11					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)	p.R11R(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TGCGGCCCCCCGGACAGTGGC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	6											46	45	45					6																	33043849		1509	2709	4218	33151827	SO:0001819	synonymous_variant	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.31C>A	6.37:g.33043849C>A			33151827	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Silent	SNP	ENST00000418931.2	37	CCDS4765.1																																																																																				0.562	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		A	33043849	C	A	33043849	2	1	139	1	0	0	0	0	0	0	0	1	7203	643	23	3		3	HLA-DPB1	6	33043849	Silent	SNP	C	TCGA-13-1495-01A-01W-0545-08		33043849	138071218	12	7540											
T	6862	broad.mit.edu	37	6	166571861	166571861	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr6:166571861G>A	ENST00000296946.2	-	9	1718	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	T_ENST00000366871.3_Missense_Mutation_p.A359V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	417					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A417V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TTGGGCTGCGGCGTCGTACTG	0.632									Chordoma, Familial Clustering of																																							1	Substitution - Missense(1)	ovary(1)	6											113	118	116					6																	166571861		2203	4300	6503	166491851	SO:0001583	missense	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1250C>T	6.37:g.166571861G>A	ENSP00000296946:p.Ala417Val		166491851	E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	3.405	-0.121462	0.06838	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83673	-1.73;-1.75	4.64	4.64	0.57946	.	0.310182	0.25310	N	0.031587	T	0.55481	0.1923	N	0.25245	0.725	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.003;0.004;0.002	T	0.42327	-0.9458	10	0.32370	T	0.25	.	10.5338	0.44992	0.0893:0.0:0.9107:0.0	.	359;417;359	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	V	417;417;359	ENSP00000296946:A417V;ENSP00000355836:A359V	ENSP00000296946:A417V	A	-	2	0	T	166491851	0.131000	0.22433	0.226000	0.23910	0.194000	0.23727	2.449000	0.44935	2.264000	0.75181	0.655000	0.94253	GCC		0.632	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		A	166571861	G	A	166571861	3	1	139	1	0	0	0	0	1	0	0	0	15488	1203	42	2	61	2	T	6	166571861	Missense_Mutation	SNP	G	TCGA-13-1495-01A-01W-0545-08	133528012	166571861	4543206	13	7541											
PEX2	5828	broad.mit.edu	37	8	77896009	77896009	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr8:77896009T>A	ENST00000419564.2	-	4	870	c.406A>T	c.(406-408)Aag>Tag	p.K136*	PEX2_ENST00000520103.1_Nonsense_Mutation_p.K136*|PEX2_ENST00000357039.4_Nonsense_Mutation_p.K136*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.K136*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	136					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)	p.K136*(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ACACACTGCTTGACTTTCCCA	0.373																																																1	Substitution - Nonsense(1)	ovary(1)	8											98	95	96					8																	77896009		2203	4300	6503	78058564	SO:0001587	stop_gained	5828			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"RING-type (C3HC4) zinc fingers"	9717	protein-coding gene	gene with protein product	"Zellweger syndrome", "peroxin 2"	170993	"peroxisomal membrane protein 3 (35kD, Zellweger syndrome)", "peroxisomal membrane protein 3, 35kDa"	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.406A>T	8.37:g.77896009T>A	ENSP00000400984:p.Lys136*		78058564	Q567S6|Q9BW41	Nonsense_Mutation	SNP	ENST00000419564.2	37	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	T	39	7.555792	0.98355	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527;ENST00000518986	.	.	.	5.18	5.18	0.71444	.	0.115856	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6691	15.2557	0.73582	0.0:0.0:0.0:1.0	.	.	.	.	X	136	.	ENSP00000349543:K136X	K	-	1	0	PEX2	78058564	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.361000	0.44160	2.185000	0.69588	0.456000	0.33151	AAG		0.373	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		A	77896009	T	A	77896009	4	1	139	1	0	0	0	0	0	1	0	0	11745	1821	63	5	515	5	PEX2	8	77896009	Nonsense_Mutation	SNP	T	TCGA-13-1495-01A-01W-0545-08		77896009	68468013	14	7542											
FRMD3	257019	broad.mit.edu	37	9	85958175	85958175	+	Silent	SNP	C	C	T			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr9:85958175C>T	ENST00000304195.3	-	5	608	c.402G>A	c.(400-402)agG>agA	p.R134R	FRMD3_ENST00000376438.1_Silent_p.R134R	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	134	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.R134R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAAAATGTCCCTTTTAATCT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	9											90	95	94					9																	85958175		1997	4176	6173	85147995	SO:0001819	synonymous_variant	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.402G>A	9.37:g.85958175C>T			85147995	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	CCDS43840.1																																																																																				0.458	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		T	85958175	C	T	85958175	2	4	139	1	0	0	0	0	0	0	0	1	6050	622	22	2		2	FRMD3	9	85958175	Silent	SNP	C	TCGA-13-1495-01A-01W-0545-08		85958175	55255256	15	7543											
AKR1C1	1645	broad.mit.edu	37	10	5008131	5008131	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr10:5008131C>A	ENST00000380872.4	+	2	302	c.110C>A	c.(109-111)gCc>gAc	p.A37D	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000380859.1_Missense_Mutation_p.A39D|AKR1C1_ENST00000434459.2_Missense_Mutation_p.A37D	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	37					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.A37D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GCTTTAGAGGCCACCAAATTG	0.448																																					Colon(130;2054 2316 13360 15380)											1	Substitution - Missense(1)	ovary(1)	10											88	81	83					10																	5008131		2203	4300	6503	4998131	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.110C>A	10.37:g.5008131C>A	ENSP00000370254:p.Ala37Asp		4998131	P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417112	0.42918	.	.	ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000380859	T;T;T	0.26518	1.73;1.73;1.73	2.48	1.5	0.22942	NADP-dependent oxidoreductase domain (3);	0.662303	0.13413	N	0.389753	T	0.59418	0.2192	H	0.94222	3.51	0.25844	N	0.98402	B;B;B	0.32543	0.375;0.019;0.032	P;P;P	0.57009	0.811;0.513;0.639	T	0.56950	-0.7894	10	0.72032	D	0.01	.	8.7136	0.34397	0.0:0.7628:0.2372:0.0	.	37;37;37	B4E0M1;Q2XPP3;Q04828	.;.;AK1C1_HUMAN	D	37;37;39	ENSP00000412248:A37D;ENSP00000370254:A37D;ENSP00000370240:A39D	ENSP00000370240:A39D	A	+	2	0	AKR1C1	4998131	0.008000	0.16893	0.198000	0.23420	0.037000	0.13140	1.501000	0.35693	0.325000	0.23359	0.305000	0.20034	GCC		0.448	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		A	5008131	C	A	5008131	3	1	139	1	0	0	0	0	1	0	0	0	469	739	26	3	116	3	AKR1C1	10	5008131	Missense_Mutation	SNP	C	TCGA-13-1495-01A-01W-0545-08		5008131	130526616	16	7544											
ZNF33A	7581	broad.mit.edu	37	10	38344561	38344561	+	Silent	SNP	G	G	C			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr10:38344561G>C	ENST00000458705.2	+	5	1664	c.1506G>C	c.(1504-1506)ggG>ggC	p.G502G	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Silent_p.G502G|ZNF33A_ENST00000432900.2_Silent_p.G509G|ZNF33A_ENST00000374618.3_Silent_p.G503G			Q06730	ZN33A_HUMAN	zinc finger protein 33A	502					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.G502G(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ATGCATGTGGGAAAACTTTCT	0.368																																																1	Substitution - coding silent(1)	ovary(1)	10											76	75	75					10																	38344561		2203	4300	6503	38384567	SO:0001819	synonymous_variant	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1506G>C	10.37:g.38344561G>C			38384567	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	CCDS31182.1																																																																																				0.368	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		C	38344561	G	C	38344561	2	2	139	1	0	0	0	0	0	0	0	1	17854	1161	41	3		3	ZNF33A	10	38344561	Silent	SNP	G	TCGA-13-1495-01A-01W-0545-08	33336430	38344561	97190186	17	7545											
HSPA12A	259217	broad.mit.edu	37	10	118434748	118434748	+	Silent	SNP	G	G	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr10:118434748G>A	ENST00000369209.3	-	12	1676	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	524						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D1145D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGACCGCGGGGTCCAGGCCAA	0.662																																																1	Substitution - coding silent(1)	ovary(1)	10											36	42	40					10																	118434748		2052	4184	6236	118424738	SO:0001819	synonymous_variant	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1572C>T	10.37:g.118434748G>A			118424738		Silent	SNP	ENST00000369209.3	37	CCDS41569.1																																																																																				0.662	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		A	118434748	G	A	118434748	2	1	139	1	0	0	0	0	0	0	0	1	7404	1252	44	2		2	HSPA12A	10	118434748	Silent	SNP	G	TCGA-13-1495-01A-01W-0545-08	80090187	118434748	17099999	18	7546											
AHNAK	79026	broad.mit.edu	37	11	62298690	62298690	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr11:62298690T>C	ENST00000378024.4	-	5	3473	c.3199A>G	c.(3199-3201)Atg>Gtg	p.M1067V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1067					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.M1067V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCAAAGACATCTTAGGAGCT	0.443																																																1	Substitution - Missense(1)	ovary(1)	11											116	113	114					11																	62298690		2202	4299	6501	62055266	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3199A>G	11.37:g.62298690T>C	ENSP00000367263:p.Met1067Val		62055266	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	1.325	-0.598442	0.03744	.	.	ENSG00000124942	ENST00000378024	T	0.00664	5.92	4.76	3.59	0.41128	.	0.747725	0.12874	N	0.432019	T	0.00412	0.0013	N	0.00972	-1.085	0.21933	N	0.999469	B	0.16166	0.016	B	0.14023	0.01	T	0.45731	-0.9241	10	0.22706	T	0.39	-8.7555	9.0086	0.36127	0.0:0.0875:0.0:0.9125	.	1067	Q09666	AHNK_HUMAN	V	1067	ENSP00000367263:M1067V	ENSP00000367263:M1067V	M	-	1	0	AHNAK	62055266	0.211000	0.23529	0.997000	0.53966	0.500000	0.33767	0.121000	0.15667	0.637000	0.30526	0.454000	0.30748	ATG		0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62298690	T	C	62298690	3	2	139	1	0	0	0	0	1	0	0	0	414	1435	50	4	14593	4	AHNAK	11	62298690	Missense_Mutation	SNP	T	TCGA-13-1495-01A-01W-0545-08		62298690	72707826	19	7547											
BCDIN3D	144233	broad.mit.edu	37	12	50232433	50232433	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	-	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr12:50232433delC	ENST00000333924.4	-	2	641	c.600delG	c.(598-600)tggfs	p.W200fs	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	200	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)	p.W200fs*1(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GGTAACACTTCCAGGGTTGGG	0.557																																																1	Deletion - Frameshift(1)	ovary(1)	12											67	63	64					12																	50232433		2203	4300	6503	48518700	SO:0001589	frameshift_variant	144233				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.600delG	12.37:g.50232433delC	ENSP00000335201:p.Trp200fs		48518700	A8K829	Frame_Shift_Del	DEL	ENST00000333924.4	37	CCDS8790.1																																																																																				0.557	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		-	50232433	C	-	50232433	7	5	139	1	0	1	0	1	0	0	0	0	1357	856	30	0	282	0	BCDIN3D	12	50232433	Frame_Shift_Del	DEL	C	TCGA-13-1495-01A-01W-0545-08		50232433	83619462	20	7548											
MAPKAPK5	8550	broad.mit.edu	37	12	112318333	112318333	+	Splice_Site	SNP	T	T	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr12:112318333T>A	ENST00000551404.2	+	8	768		c.e8+2		MAPKAPK5_ENST00000550735.2_Splice_Site			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5						activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		endometrium(1)|lung(11)|ovary(1)	13						TACAACAAGGTACAGGAAGAG	0.502																																																1	Unknown(1)	ovary(1)	12											126	116	119					12																	112318333		1961	4144	6105	110802716	SO:0001630	splice_region_variant	8550			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.660+2T>A	12.37:g.112318333T>A			110802716	B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Splice_Site	SNP	ENST00000551404.2	37	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.009017	0.75046	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPKAPK5	110802716	1.000000	0.71417	0.992000	0.48379	0.724000	0.41520	5.970000	0.70431	2.302000	0.77476	0.533000	0.62120	.		0.502	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078	Intron	A	112318333	T	A	112318333	5	1	139	1	0	0	0	0	0	0	1	0	9291	1652	57	5	692	5	MAPKAPK5	12	112318333	Splice_Site	SNP	T	TCGA-13-1495-01A-01W-0545-08	62085900	112318333	21533562	21	7549											
PKD1L2	114780	broad.mit.edu	37	16	81187943	81187943	+	RNA	SNP	C	C	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr16:81187943C>A	ENST00000525539.1	-	0	4125				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.V1376L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTGACCTTCACCTGAAGAGAA	0.517																																																1	Substitution - Missense(1)	ovary(1)	16											86	83	84					16																	81187943		2037	4204	6241	79745444			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81187943C>A			79745444	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37																																																																																					0.517	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81187943	C	A	81187943	1	1	139	0	1	0	0	0	0	0	0	0	11965	521	18	3		3	PKD1L2	16	81187943	RNA	SNP	C	TCGA-13-1495-01A-01W-0545-08		81187943	9166810	22	7550											
TP53	7157	broad.mit.edu	37	17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr17:7578266T>A	ENST00000269305.4	-	6	772	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000445888.2_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000420246.2_Missense_Mutation_p.I195F	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)	TCCACTCGGATAAGATGCTGA	0.557		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"	60	Substitution - Missense(23)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - Frameshift(4)|Complex - frameshift(1)	upper_aerodigestive_tract(8)|breast(8)|large_intestine(6)|biliary_tract(5)|skin(5)|lung(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|urinary_tract(2)|liver(2)|stomach(1)|soft_tissue(1)	17											99	89	92					17																	7578266		2203	4300	6503	7518991	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.583A>T	17.37:g.7578266T>A	ENSP00000269305:p.Ile195Phe		7518991	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	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493726	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99802	0.9915	M	0.85099	2.735	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.998;0.997;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.989;0.955;0.972;0.988;0.99;0.992	D	0.96806	0.9593	10	0.87932	D	0	-18.4587	13.709	0.62656	0.0:0.0:0.0:1.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195F;ENSP00000352610:I195F;ENSP00000269305:I195F;ENSP00000398846:I195F;ENSP00000391127:I195F;ENSP00000391478:I195F;ENSP00000425104:I63F;ENSP00000423862:I102F	ENSP00000269305:I195F	I	-	1	0	TP53	7518991	1.000000	0.71417	0.895000	0.35142	0.030000	0.12068	6.159000	0.71856	2.183000	0.69458	0.533000	0.62120	ATC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578266	T	A	7578266	3	1	139	1	0	0	0	0	1	0	0	0	16381	1406	49	5	711	5	TP53	17	7578266	Missense_Mutation	SNP	T	TCGA-13-1495-01A-01W-0545-08		7578266	73616944	23	7551											
CDK12	51755	broad.mit.edu	37	17	37627889	37627889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr17:37627889C>T	ENST00000447079.4	+	2	1837	c.1804C>T	c.(1804-1806)Cag>Tag	p.Q602*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q602*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	602					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.Q602*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGCAAATTCTCAGCCCCCTGT	0.488			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Nonsense(1)	ovary(1)	17											133	131	132					17																	37627889		2203	4300	6503	34881415	SO:0001587	stop_gained	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1804C>T	17.37:g.37627889C>T	ENSP00000398880:p.Gln602*		34881415	A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	38	7.242650	0.98157	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.79	5.79	0.91817	.	0.000000	0.46758	D	0.000271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-9.9659	19.0299	0.92952	0.0:1.0:0.0:0.0	.	.	.	.	X	602	.	ENSP00000407720:Q602X	Q	+	1	0	CDK12	34881415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.146000	0.64845	2.736000	0.93811	0.655000	0.94253	CAG		0.488	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		T	37627889	C	T	37627889	4	4	139	1	0	0	0	0	0	1	0	0	3128	827	29	2	1810	2	CDK12	17	37627889	Nonsense_Mutation	SNP	C	TCGA-13-1495-01A-01W-0545-08	30049623	37627889	43567321	24	7552											
WDR7	23335	broad.mit.edu	37	18	54363571	54363571	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr18:54363571A>C	ENST00000254442.3	+	12	1667	c.1456A>C	c.(1456-1458)Ata>Cta	p.I486L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.I486L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	486					hematopoietic progenitor cell differentiation (GO:0002244)			p.I486L(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAGATACCTGATATCTGGAGG	0.418																																																1	Substitution - Missense(1)	ovary(1)	18											148	132	138					18																	54363571		2203	4300	6503	52514569	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1456A>C	18.37:g.54363571A>C	ENSP00000254442:p.Ile486Leu		52514569	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959630	0.34565	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.59638	0.25;0.25	5.73	3.35	0.38373	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.166503	0.53938	D	0.000042	T	0.30572	0.0769	N	0.03948	-0.315	0.44104	D	0.996878	B;B	0.23377	0.003;0.084	B;B	0.26416	0.008;0.069	T	0.04041	-1.0982	10	0.18710	T	0.47	.	8.9599	0.35840	0.7866:0.0:0.2134:0.0	.	486;486	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	486	ENSP00000254442:I486L;ENSP00000350187:I486L	ENSP00000254442:I486L	I	+	1	0	WDR7	52514569	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.582000	0.36568	0.533000	0.28675	0.533000	0.62120	ATA		0.418	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			C	54363571	A	C	54363571	3	2	139	1	0	0	0	0	1	0	0	0	17320	333	12	5	1498	5	WDR7	18	54363571	Missense_Mutation	SNP	A	TCGA-13-1495-01A-01W-0545-08		54363571	23713677	25	7553											
ATP13A1	57130	broad.mit.edu	37	19	19767522	19767522	+	Missense_Mutation	SNP	G	G	A	rs371113170		TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr19:19767522G>A	ENST00000357324.6	-	7	1056	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	ATP13A1_ENST00000496082.1_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.R226C	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	344						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R344C(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACGATGCAGCGGCCTCGCAGC	0.637																																					Esophageal Squamous(142;920 1789 9047 14684 24777)											1	Substitution - Missense(1)	ovary(1)	19						G	CYS/ARG	0,4406		0,0,2203	57	51	53		1030	4.9	1	19		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP13A1	NM_020410.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	344/1205	19767522	1,13005	2203	4300	6503	19628522	SO:0001583	missense	57130			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1030C>T	19.37:g.19767522G>A	ENSP00000349877:p.Arg344Cys		19628522	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809027	0.90707	0.0	1.16E-4	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.90732	-2.72;-2.72	4.89	4.89	0.63831	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.93654	0.7973	L	0.58583	1.82	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.65443	0.935;0.666	D	0.94222	0.7468	10	0.72032	D	0.01	-33.9359	15.9147	0.79503	0.0:0.0:1.0:0.0	.	344;226	Q9HD20;Q9HD20-2	AT131_HUMAN;.	C	226;344	ENSP00000291503:R226C;ENSP00000349877:R344C	ENSP00000291503:R226C	R	-	1	0	ATP13A1	19628522	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.054000	0.64275	2.413000	0.81919	0.563000	0.77884	CGC		0.637	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		A	19767522	G	A	19767522	3	1	139	1	0	0	0	0	1	0	0	0	1123	1116	39	1	2664	1	ATP13A1	19	19767522	Missense_Mutation	SNP	G	TCGA-13-1495-01A-01W-0545-08		19767522	39361461	26	7554											
ZNF43	7594	broad.mit.edu	37	19	21990499	21990499	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr19:21990499A>C	ENST00000354959.4	-	4	2509	c.2340T>G	c.(2338-2340)caT>caG	p.H780Q	ZNF43_ENST00000595461.1_Missense_Mutation_p.H774Q|ZNF43_ENST00000598381.1_Missense_Mutation_p.H774Q|ZNF43_ENST00000594012.1_Missense_Mutation_p.H774Q	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	780					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.H780Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GAATTTTGTTATGTGTAGTAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	19											59	61	60					19																	21990499		2203	4300	6503	21782339	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2340T>G	19.37:g.21990499A>C	ENSP00000347045:p.His780Gln		21782339	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305194	0.40795	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.60797	0.16	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68054	0.2959	M	0.84846	2.72	0.09310	N	1	D	0.76494	0.999	D	0.68039	0.955	T	0.59139	-0.7510	9	0.66056	D	0.02	.	0.5032	0.00583	0.3759:0.1805:0.2658:0.1778	.	780	P17038	ZNF43_HUMAN	Q	779;780	ENSP00000347045:H780Q	ENSP00000347045:H780Q	H	-	3	2	ZNF43	21782339	0.065000	0.20965	0.000000	0.03702	0.882000	0.50991	0.131000	0.15870	-1.402000	0.02056	0.254000	0.18369	CAT		0.323	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		C	21990499	A	C	21990499	3	2	139	1	0	0	0	0	1	0	0	0	17903	446	16	5	93	5	ZNF43	19	21990499	Missense_Mutation	SNP	A	TCGA-13-1495-01A-01W-0545-08	2222977	21990499	37138484	27	7555											
ZNF473	25888	broad.mit.edu	37	19	50549780	50549780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr19:50549780C>T	ENST00000595661.1	+	6	2575	c.2080C>T	c.(2080-2082)Cga>Tga	p.R694*	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	694					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R694*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGCATGAGCGAACTCATGC	0.453																																																1	Substitution - Nonsense(1)	ovary(1)	19											78	81	80					19																	50549780		2203	4300	6503	55241592	SO:0001587	stop_gained	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2080C>T	19.37:g.50549780C>T	ENSP00000472808:p.Arg694*		55241592	A8K8T7|Q9ULS9|Q9Y4Q7	Nonsense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	36	5.831686	0.97003	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.21	0.966	0.19667	.	0.679345	0.12907	N	0.429279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.416	4.1994	0.10458	0.6041:0.1829:0.213:0.0	.	.	.	.	X	694;694;682	.	ENSP00000270617:R694X	R	+	1	2	ZNF473	55241592	0.000000	0.05858	0.140000	0.22221	0.027000	0.11550	-0.447000	0.06828	0.111000	0.17947	-0.347000	0.07816	CGA		0.453	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		T	50549780	C	T	50549780	4	4	139	1	0	0	0	0	0	1	0	0	17931	760	27	1	2094	1	ZNF473	19	50549780	Nonsense_Mutation	SNP	C	TCGA-13-1495-01A-01W-0545-08	28559281	50549780	8579203	28	7556											
SYT3	84258	broad.mit.edu	37	19	51135643	51135643	+	Missense_Mutation	SNP	C	C	A	rs376869372		TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr19:51135643C>A	ENST00000338916.4	-	2	1207	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W	SYT3_ENST00000544769.1_Missense_Mutation_p.G192W|SYT3_ENST00000593901.1_Missense_Mutation_p.G192W|SYT3_ENST00000600079.1_Missense_Mutation_p.G192W	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	192					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.G192W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTGCTCCCCCCTCAGAGGGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	19											39	42	41					19																	51135643		2203	4300	6503	55827455	SO:0001583	missense	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.574G>T	19.37:g.51135643C>A	ENSP00000340914:p.Gly192Trp		55827455	Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047467	0.36085	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.59906	0.23;0.23	5.24	0.431	0.16523	.	0.298737	0.26041	U	0.026700	T	0.37945	0.1022	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	P	0.49853	0.624	T	0.27020	-1.0086	10	0.66056	D	0.02	.	4.7068	0.12853	0.1509:0.5971:0.0:0.2519	.	192	Q9BQG1	SYT3_HUMAN	W	192	ENSP00000340914:G192W;ENSP00000438883:G192W	ENSP00000340914:G192W	G	-	1	0	SYT3	55827455	0.018000	0.18449	0.292000	0.24919	0.504000	0.33889	1.050000	0.30404	0.314000	0.23086	0.655000	0.94253	GGG		0.647	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		A	51135643	C	A	51135643	3	1	139	1	0	0	0	0	1	0	0	0	15475	623	22	3	1226	3	SYT3	19	51135643	Missense_Mutation	SNP	C	TCGA-13-1495-01A-01W-0545-08	585863	51135643	7993340	29	7557											
ZNF665	79788	broad.mit.edu	37	19	53668970	53668970	+	Missense_Mutation	SNP	C	C	A	rs147129840	byFrequency	TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr19:53668970C>A	ENST00000600412.1	-	2	693	c.578G>T	c.(577-579)gGa>gTa	p.G193V	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.G258V			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	193					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.G193V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGTTTCTCTCCAGTATGAAT	0.393																																																1	Substitution - Missense(1)	ovary(1)	19											103	113	110					19																	53668970		2203	4300	6503	58360782	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.578G>T	19.37:g.53668970C>A	ENSP00000469154:p.Gly193Val		58360782	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	C	15.84	2.953335	0.53293	.	.	ENSG00000197497	ENST00000396424	T	0.01599	4.74	2.44	2.44	0.29823	.	.	.	.	.	T	0.08714	0.0216	M	0.76727	2.345	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	T	0.04242	-1.0966	9	0.72032	D	0.01	.	11.9849	0.53142	0.0:1.0:0.0:0.0	.	258	Q9H7R5-2	.	V	258	ENSP00000379702:G258V	ENSP00000379702:G258V	G	-	2	0	ZNF665	58360782	0.000000	0.05858	0.596000	0.28811	0.630000	0.37929	0.257000	0.18369	1.357000	0.45904	0.543000	0.68304	GGA		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		A	53668970	C	A	53668970	3	1	139	1	0	0	0	0	1	0	0	0	18073	855	30	3	1267	3	ZNF665	19	53668970	Missense_Mutation	SNP	C	TCGA-13-1495-01A-01W-0545-08	2533327	53668970	5460013	30	7558											
CRNKL1	51340	broad.mit.edu	37	20	20031249	20031249	+	Silent	SNP	C	C	T	rs367820186		TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr20:20031249C>T	ENST00000377340.2	-	3	583	c.552G>A	c.(550-552)ccG>ccA	p.P184P	C20orf26_ENST00000377309.2_5'Flank|CRNKL1_ENST00000377327.4_Silent_p.P172P|C20orf26_ENST00000389656.3_5'Flank|C20orf26_ENST00000377306.1_5'Flank|CRNKL1_ENST00000536226.1_Silent_p.P23P|C20orf26_ENST00000245957.5_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	184					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P184P(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTACCTCAGCCGGGGCTTTGT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	20						C		1,4405	2.1+/-5.4	0,1,2202	112	109	110		552	-10.8	0.3	20		110	0,8600		0,0,4300	no	coding-synonymous	CRNKL1	NM_016652.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		184/849	20031249	1,13005	2203	4300	6503	19979249	SO:0001819	synonymous_variant	51340			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.552G>A	20.37:g.20031249C>T			19979249	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	37	CCDS33446.1																																																																																				0.378	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			T	20031249	C	T	20031249	2	4	139	1	0	0	0	0	0	0	0	1	3891	639	23	1		1	CRNKL1	20	20031249	Silent	SNP	C	TCGA-13-1495-01A-01W-0545-08		20031249	42994271	31	7559											
COMT	1312	broad.mit.edu	37	22	19951093	19951093	+	Silent	SNP	G	G	A			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chr22:19951093G>A	ENST00000361682.6	+	4	676	c.294G>A	c.(292-294)aaG>aaA	p.K98K	COMT_ENST00000407537.1_Silent_p.K48K|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000406520.3_Silent_p.K98K|MIR4761_ENST00000585066.1_RNA|COMT_ENST00000403710.1_Silent_p.K98K|COMT_ENST00000403184.1_Silent_p.K98K|COMT_ENST00000449653.1_Silent_p.K48K	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	98					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)	p.K98K(1)		kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	GCACAGGCAAGATCGTGGACG	0.657																																																1	Substitution - coding silent(1)	ovary(1)	22											45	40	42					22																	19951093		2203	4300	6503	18331093	SO:0001819	synonymous_variant	1312				CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.294G>A	22.37:g.19951093G>A			18331093	A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	ENST00000361682.6	37	CCDS13770.1																																																																																				0.657	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		A	19951093	G	A	19951093	2	1	139	1	0	0	0	0	0	0	0	1	3725	933	33	2		2	COMT	22	19951093	Silent	SNP	G	TCGA-13-1495-01A-01W-0545-08		19951093	31353473	32	7560											
CPXCR1	53336	broad.mit.edu	37	X	88008812	88008812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chrX:88008812C>T	ENST00000276127.4	+	3	656	c.397C>T	c.(397-399)Cga>Tga	p.R133*	CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.R133*	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	133							metal ion binding (GO:0046872)	p.R133*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AACTCGTTTTCGACTTTCAAC	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	X											52	47	49					X																	88008812		2203	4300	6503	87895468	SO:0001587	stop_gained	53336			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.397C>T	X.37:g.88008812C>T	ENSP00000276127:p.Arg133*		87895468	B2R9F9|D3DTE7|Q96RS3	Nonsense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786788	0.70337	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	.	.	.	3.06	3.06	0.35304	.	0.969776	0.08359	N	0.958027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.6039	8.8048	0.34932	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	.	R	+	1	2	CPXCR1	87895468	0.009000	0.17119	0.004000	0.12327	0.005000	0.04900	1.704000	0.37857	1.807000	0.52817	0.594000	0.82650	CGA		0.388	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		T	88008812	C	T	88008812	4	4	139	1	0	0	0	0	0	1	0	0	3836	876	31	1	399	1	CPXCR1	23	88008812	Nonsense_Mutation	SNP	C	TCGA-13-1495-01A-01W-0545-08		88008812	67261748	33	7561											
RBMX2	51634	broad.mit.edu	37	X	129543288	129543288	+	Silent	SNP	A	A	G			TCGA-13-1495-01A-01W-0545-08	TCGA-13-1495-10A-01D-0472-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a5b00ef6-3b8c-47b8-8a33-e575e6edd0eb	2b681f1b-9f68-419d-b5c2-97447d78a44b	g.chrX:129543288A>G	ENST00000305536.6	+	4	295	c.231A>G	c.(229-231)aaA>aaG	p.K77K	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	77	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K77K(1)		breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GGAAATCCAAAGGATTCTGTT	0.393																																																1	Substitution - coding silent(1)	ovary(1)	X											88	84	85					X																	129543288		1830	4077	5907	129370969	SO:0001819	synonymous_variant	51634			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.231A>G	X.37:g.129543288A>G			129370969	A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	ENST00000305536.6	37	CCDS43993.1																																																																																				0.393	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		G	129543288	A	G	129543288	2	3	139	1	0	0	0	0	0	0	0	1	13155	69	3	4		4	RBMX2	23	129543288	Silent	SNP	A	TCGA-13-1495-01A-01W-0545-08	41534476	129543288	25727272	34	7562											
IGSF21	84966	broad.mit.edu	37	1	18703371	18703371	+	Silent	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr1:18703371C>T	ENST00000251296.1	+	8	1562	c.1179C>T	c.(1177-1179)gaC>gaT	p.D393D	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	393	Ig-like 2.					extracellular region (GO:0005576)		p.D393D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CTGAGTTCGACGGGAAGGAGC	0.657																																																1	Substitution - coding silent(1)	ovary(1)	1											44	45	45					1																	18703371		2203	4300	6503	18575958	SO:0001819	synonymous_variant	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1179C>T	1.37:g.18703371C>T			18575958	Q8NBR8	Silent	SNP	ENST00000251296.1	37	CCDS184.1																																																																																				0.657	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		T	18703371	C	T	18703371	2	4	140	1	0	0	0	0	0	0	0	1	7599	535	19	1		1	IGSF21	1	18703371	Silent	SNP	C	TCGA-13-1496-01A-01W-0545-08		18703371	230547250	1	7563											
NBL1	4681	broad.mit.edu	37	1	19981646	19981646	+	Silent	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr1:19981646C>T	ENST00000375136.3	+	2	426	c.123C>T	c.(121-123)acC>acT	p.T41T	NBL1_ENST00000289749.2_Silent_p.T76T|MINOS1-NBL1_ENST00000602662.1_Silent_p.T41T|NBL1_ENST00000548815.1_Silent_p.T40T	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	41	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)	p.T40T(1)		lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGAACATCACCCAGATCGTGG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	1											40	32	34					1																	19981646		2203	4300	6503	19854233	SO:0001819	synonymous_variant	4681				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"neuroblastoma candidate region, suppression of tumorigenicity 1", "neuroblastoma suppressor of tumorigenicity 1", "differential screening-selected gene aberrant in neuroblastoma"	600613	"neuroblastoma, suppression of tumorigenicity 1"			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.123C>T	1.37:g.19981646C>T			19854233	A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Silent	SNP	ENST00000375136.3	37	CCDS196.2																																																																																				0.632	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007681.4	NM_005380		T	19981646	C	T	19981646	2	4	140	1	0	0	0	0	0	0	0	1	10190	610	22	2		2	NBL1	1	19981646	Silent	SNP	C	TCGA-13-1496-01A-01W-0545-08	1278275	19981646	229268975	2	7564											
RLF	6018	broad.mit.edu	37	1	40703591	40703591	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr1:40703591A>G	ENST00000372771.4	+	8	3244	c.3217A>G	c.(3217-3219)Aaa>Gaa	p.K1073E		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1073					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K1073E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTTAAGCTTGAAAAACTCAAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											103	101	102					1																	40703591		2203	4300	6503	40476178	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3217A>G	1.37:g.40703591A>G	ENSP00000361857:p.Lys1073Glu		40476178	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	3.623	-0.077194	0.07184	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.13901	2.55	5.85	4.67	0.58626	.	0.086877	0.85682	D	0.000000	T	0.10337	0.0253	L	0.38531	1.155	0.38988	D	0.95909	P;B	0.38597	0.639;0.172	B;B	0.30029	0.11;0.038	T	0.13899	-1.0492	10	0.44086	T	0.13	-20.8119	12.7504	0.57306	0.8632:0.1368:0.0:0.0	.	766;1073	F5H2M5;Q13129	.;RLF_HUMAN	E	1073;766	ENSP00000361857:K1073E	ENSP00000361857:K1073E	K	+	1	0	RLF	40476178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.849000	0.39318	2.234000	0.73211	0.533000	0.62120	AAA		0.418	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		G	40703591	A	G	40703591	3	3	140	1	0	0	0	0	1	0	0	0	13392	247	9	4	3247	4	RLF	1	40703591	Missense_Mutation	SNP	A	TCGA-13-1496-01A-01W-0545-08	20721945	40703591	208547030	3	7565											
ERI3	79033	broad.mit.edu	37	1	44804760	44804760	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr1:44804760A>G	ENST00000372257.2	-	3	627	c.446T>C	c.(445-447)cTg>cCg	p.L149P	ERI3_ENST00000537474.1_Intron|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	149	Exonuclease.						exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L149P(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCAAAGTCCAGCACTAAAAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											163	173	170					1																	44804760		2203	4300	6503	44577347	SO:0001583	missense	79033			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"Enhanced RNAi three prime mRNA exonucleases"	17276	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)", "exoribonuclease 3"	609917	"prion protein interacting protein"	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.446T>C	1.37:g.44804760A>G	ENSP00000361331:p.Leu149Pro		44577347	B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	37	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259056	0.80246	.	.	ENSG00000117419	ENST00000372257;ENST00000372253;ENST00000457571	T;T	0.28454	1.61;1.61	6.17	6.17	0.99709	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.201673	0.34676	N	0.003780	T	0.65616	0.2708	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73742	-0.3887	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	147;71;149	F6UGJ8;B4DN03;O43414	.;.;ERI3_HUMAN	P	149;15;147	ENSP00000361331:L149P;ENSP00000412291:L147P	ENSP00000361327:L15P	L	-	2	0	ERI3	44577347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.063000	0.71162	2.371000	0.80710	0.533000	0.62120	CTG		0.552	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		G	44804760	A	G	44804760	3	3	140	1	0	0	0	0	1	0	0	0	5229	188	7	4	595	4	ERI3	1	44804760	Missense_Mutation	SNP	A	TCGA-13-1496-01A-01W-0545-08	4101169	44804760	204445861	4	7566											
DAB1	1600	broad.mit.edu	37	1	57476834	57476834	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr1:57476834C>A	ENST00000371231.1	-	14	1689	c.1655G>T	c.(1654-1656)aGc>aTc	p.S552I	DAB1_ENST00000371236.2_Missense_Mutation_p.S519I|DAB1_ENST00000371234.4_Missense_Mutation_p.S519I|DAB1_ENST00000420954.2_Missense_Mutation_p.S517I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.S501I|DAB1_ENST00000439789.2_Missense_Mutation_p.S433I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	552					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.S519I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTGCTCTTCGCTTTTGCTGGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											133	136	135					1																	57476834		2203	4300	6503	57249422	SO:0001583	missense	1600			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1655G>T	1.37:g.57476834C>A	ENSP00000360275:p.Ser552Ile		57249422	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	C	18.68	3.675828	0.67928	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.56941	0.45;0.45;0.44;0.43;1.46;0.49	4.96	4.96	0.65561	.	0.397394	0.17838	U	0.160313	T	0.69984	0.3172	L	0.55481	1.735	0.49130	D	0.999754	D;D;D;P;D	0.89917	1.0;0.999;1.0;0.784;1.0	D;D;D;B;D	0.76575	0.966;0.972;0.982;0.319;0.988	T	0.71666	-0.4524	10	0.87932	D	0	-33.8659	18.7462	0.91794	0.0:1.0:0.0:0.0	.	501;552;519;433;517	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	I	519;519;519;517;501;433;552	ENSP00000360280:S519I;ENSP00000360278:S519I;ENSP00000395296:S517I;ENSP00000387581:S501I;ENSP00000409328:S433I;ENSP00000360275:S552I	ENSP00000360275:S552I	S	-	2	0	DAB1	57249422	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.409000	0.59768	2.724000	0.93272	0.555000	0.69702	AGC		0.433	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		A	57476834	C	A	57476834	3	1	140	1	0	0	0	0	1	0	0	0	4217	797	28	3	119	3	DAB1	1	57476834	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	12672074	57476834	191773787	5	7567											
DCST2	127579	broad.mit.edu	37	1	155005607	155005607	+	Silent	SNP	G	G	A			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr1:155005607G>A	ENST00000368424.3	-	2	460	c.402C>T	c.(400-402)acC>acT	p.T134T	DCST1_ENST00000295542.1_5'Flank|DCST2_ENST00000295536.5_Silent_p.T134T|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST1_ENST00000368419.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	134						integral component of membrane (GO:0016021)		p.T134T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACTTCGGCGGTCTGGTTCA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	1											51	44	46					1																	155005607		2201	4299	6500	153272231	SO:0001819	synonymous_variant	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.402C>T	1.37:g.155005607G>A			153272231	Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	CCDS1082.2																																																																																				0.627	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		A	155005607	G	A	155005607	2	1	140	1	0	0	0	0	0	0	0	1	4303	1103	39	1		1	DCST2	1	155005607	Silent	SNP	G	TCGA-13-1496-01A-01W-0545-08	97528773	155005607	94245014	6	7568											
PPP1R12B	4660	broad.mit.edu	37	1	202464598	202464598	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr1:202464598A>T	ENST00000608999.1	+	16	2476	c.2323A>T	c.(2323-2325)Atg>Ttg	p.M775L	PPP1R12B_ENST00000391959.3_Start_Codon_SNP_p.M1L|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.M775L|PPP1R12B_ENST00000367270.4_Start_Codon_SNP_p.M1L|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	775					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.M775L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGCAAAGGAAATGGACAAAAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											66	63	64					1																	202464598		2203	4300	6503	200731221	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2323A>T	1.37:g.202464598A>T	ENSP00000476755:p.Met775Leu		200731221	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284381	0.80803	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270	T;T;T;T	0.42131	4.12;4.12;0.98;0.98	5.67	5.67	0.87782	.	0.405893	0.26241	N	0.025501	T	0.60038	0.2238	M	0.72479	2.2	0.80722	D	1	P;P;B	0.48407	0.91;0.838;0.066	D;B;B	0.62955	0.909;0.321;0.093	T	0.56068	-0.8040	10	0.25751	T	0.34	.	13.7212	0.62728	1.0:0.0:0.0:0.0	.	1;775;775	O60237-3;O60237;F8W8M3	.;MYPT2_HUMAN;.	L	775;775;1;1	ENSP00000384496:M775L;ENSP00000337897:M775L;ENSP00000375821:M1L;ENSP00000356239:M1L	ENSP00000337897:M775L	M	+	1	0	PPP1R12B	200731221	0.999000	0.42202	0.997000	0.53966	0.992000	0.81027	4.257000	0.58816	2.281000	0.76405	0.533000	0.62120	ATG		0.423	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		T	202464598	A	T	202464598	3	4	140	1	0	0	0	0	1	0	0	0	12358	101	4	5	2475	5	PPP1R12B	1	202464598	Missense_Mutation	SNP	A	TCGA-13-1496-01A-01W-0545-08	47458991	202464598	46786023	7	7569											
MIA3	375056	broad.mit.edu	37	1	222801726	222801726	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr1:222801726C>G	ENST00000344922.5	+	4	1189	c.1164C>G	c.(1162-1164)ttC>ttG	p.F388L	MIA3_ENST00000344507.1_Missense_Mutation_p.F388L|MIA3_ENST00000344441.6_Missense_Mutation_p.F388L|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	388					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F388L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACACTATCTTCTCTATTGTCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											77	72	73					1																	222801726		1853	4097	5950	220868349	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1164C>G	1.37:g.222801726C>G	ENSP00000340900:p.Phe388Leu		220868349	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	9.433	1.085934	0.20390	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.40756	1.11;1.11;1.02	4.27	-1.26	0.09376	.	.	.	.	.	T	0.27349	0.0671	L	0.39147	1.195	0.24276	N	0.99523	B;B	0.26602	0.154;0.058	B;B	0.20955	0.032;0.028	T	0.17653	-1.0362	9	0.34782	T	0.22	.	4.6841	0.12750	0.0:0.3407:0.1671:0.4922	.	388;388	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	L	388	ENSP00000340900:F388L;ENSP00000340587:F388L;ENSP00000341348:F388L	ENSP00000325973:F388L	F	+	3	2	MIA3	220868349	0.068000	0.21057	0.128000	0.21923	0.497000	0.33675	-0.043000	0.12043	-0.219000	0.10003	-0.680000	0.03767	TTC		0.408	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		G	222801726	C	G	222801726	3	3	140	1	0	0	0	0	1	0	0	0	9565	912	32	3	1178	3	MIA3	1	222801726	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	20337128	222801726	26448895	8	7570											
APOB	338	broad.mit.edu	37	2	21225496	21225496	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr2:21225496G>C	ENST00000233242.1	-	29	12925	c.12798C>G	c.(12796-12798)atC>atG	p.I4266M	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4266					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.I4266M(1)|p.I4266I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATACATCGAGATTACATCTA	0.368																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)	2											124	136	132					2																	21225496		2203	4300	6503	21079001	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12798C>G	2.37:g.21225496G>C	ENSP00000233242:p.Ile4266Met		21079001	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869893	0.33069	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00824	5.65	5.23	-3.73	0.04398	.	1.221940	0.05854	N	0.621757	T	0.01029	0.0034	L	0.43923	1.385	0.09310	N	0.999997	P	0.45902	0.868	B	0.39805	0.31	T	0.46707	-0.9172	10	0.62326	D	0.03	.	5.6292	0.17501	0.4638:0.0:0.3239:0.2123	.	4266	P04114	APOB_HUMAN	M	4266	ENSP00000233242:I4266M	ENSP00000233242:I4266M	I	-	3	3	APOB	21079001	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.149000	0.10204	-0.316000	0.08690	-0.133000	0.14855	ATC		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21225496	G	C	21225496	3	2	140	1	0	0	0	0	1	0	0	0	785	932	33	3	897	3	APOB	2	21225496	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08		21225496	221973877	9	7571											
C2orf39	92749	broad.mit.edu	37	2	26647253	26647253	+	Silent	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr2:26647253C>T	ENST00000288710.2	+	4	545	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	157					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.L157L(1)									GGGAAATGCTCAATACCCAAC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	2											100	96	97					2																	26647253		2203	4300	6503	26500757	SO:0001819	synonymous_variant	92749			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.471C>T	2.37:g.26647253C>T			26500757	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	CCDS1723.1																																																																																				0.502	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		T	26647253	C	T	26647253	2	4	140	1	0	0	0	0	0	0	0	1	2164	813	29	2		2	C2orf39	2	26647253	Silent	SNP	C	TCGA-13-1496-01A-01W-0545-08	5421757	26647253	216552120	10	7572											
AGBL5	60509	broad.mit.edu	37	2	27282174	27282174	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr2:27282174C>T	ENST00000360131.4	+	11	2150	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	AGBL5-IT1_ENST00000411862.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.S664F	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	664					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.S664F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAAGAATTCCCCCAGCTTT	0.582																																																1	Substitution - Missense(1)	ovary(1)	2											72	79	76					2																	27282174		2203	4300	6503	27135678	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1991C>T	2.37:g.27282174C>T	ENSP00000353249:p.Ser664Phe		27135678	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527883	0.85706	.	.	ENSG00000084693	ENST00000323064;ENST00000360131;ENST00000441931	T;T	0.28666	1.84;1.6	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	L	0.53249	1.67	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.53063	-0.8491	10	0.87932	D	0	-18.2101	19.571	0.95419	0.0:1.0:0.0:0.0	.	664;664	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	F	664;664;14	ENSP00000323681:S664F;ENSP00000353249:S664F	ENSP00000323681:S664F	S	+	2	0	AGBL5	27135678	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.350000	0.73017	2.713000	0.92767	0.655000	0.94253	TCC		0.582	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		T	27282174	C	T	27282174	3	4	140	1	0	0	0	0	1	0	0	0	378	855	30	2	2029	2	AGBL5	2	27282174	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	634921	27282174	215917199	11	7573											
PSD4	23550	broad.mit.edu	37	2	113950108	113950108	+	Missense_Mutation	SNP	C	C	T	rs117870995	byFrequency	TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr2:113950108C>T	ENST00000245796.6	+	6	1975	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	PSD4_ENST00000441564.3_Missense_Mutation_p.R566C	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	594	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.R594C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGGCCTCACGCCTCTATCG	0.597													c|||	10	0.00199681	0	0	5008	,	,		20368	0.0089		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	2											117	115	116					2																	113950108		2203	4300	6503	113666579	SO:0001583	missense	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1780C>T	2.37:g.113950108C>T	ENSP00000245796:p.Arg594Cys		113666579	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	CCDS33276.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	c	20.1	3.938747	0.73557	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.54071	0.59;0.59	5.55	4.64	0.57946	SEC7-like (4);	0.123933	0.53938	D	0.000056	T	0.62792	0.2457	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.987;0.983;0.99	T	0.70299	-0.4910	10	0.87932	D	0	.	11.6083	0.51045	0.3082:0.6918:0.0:0.0	.	252;566;594	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	C	594;566	ENSP00000245796:R594C;ENSP00000413997:R566C	ENSP00000245796:R594C	R	+	1	0	PSD4	113666579	0.103000	0.21917	0.970000	0.41538	0.938000	0.57974	0.466000	0.22019	2.623000	0.88846	0.558000	0.71614	CGC		0.597	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113950108	C	T	113950108	3	4	140	1	0	0	0	0	1	0	0	0	12652	536	19	1	1798	1	PSD4	2	113950108	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	86667934	113950108	129249265	12	7574											
TTN	7273	broad.mit.edu	37	2	179584151	179584151	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr2:179584151C>T	ENST00000591111.1	-	81	23239	c.23015G>A	c.(23014-23016)cGc>cAc	p.R7672H	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R7989H|TTN_ENST00000342992.6_Missense_Mutation_p.R6745H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13216	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R6745H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGCTTGCGGATGAAGGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											79	81	80					2																	179584151		1909	4124	6033	179292396	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23015G>A	2.37:g.179584151C>T	ENSP00000465570:p.Arg7672His		179292396	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.72	2.023540	0.35701	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.81959	0.4933	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.82049	-0.0650	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	7672	Q8WZ42	TITIN_HUMAN	H	6745	ENSP00000343764:R6745H	ENSP00000343764:R6745H	R	-	2	0	TTN	179292396	0.947000	0.32204	1.000000	0.80357	0.989000	0.77384	1.414000	0.34736	2.894000	0.99253	0.655000	0.94253	CGC		0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179584151	C	T	179584151	3	4	140	1	0	0	0	0	1	0	0	0	16735	768	27	1	80683	1	TTN	2	179584151	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	65634043	179584151	63615222	13	7575											
PRR21	643905	broad.mit.edu	37	2	240982349	240982349	+	Silent	SNP	G	G	C			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr2:240982349G>C	ENST00000408934.1	-	1	50	c.51C>G	c.(49-51)ggC>ggG	p.G17G		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	17								p.G17G(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGAATGAAAAGCCGTGGATGA	0.572																																																2	Substitution - coding silent(2)	ovary(2)	2											93	81	85					2																	240982349		2201	4297	6498	240631022	SO:0001819	synonymous_variant	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.51C>G	2.37:g.240982349G>C			240631022		Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																				0.572	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		C	240982349	G	C	240982349	2	2	140	1	0	0	0	0	0	0	0	1	12595	958	34	3		3	PRR21	2	240982349	Silent	SNP	G	TCGA-13-1496-01A-01W-0545-08	61398198	240982349	2217024	14	7576											
OR5H2	79310	broad.mit.edu	37	3	98001888	98001888	+	Missense_Mutation	SNP	C	C	T	rs183927815		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr3:98001888C>T	ENST00000355273.2	+	1	157	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L53F(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTGATTGCTCTTATCTGGAA	0.428													C|||	1	0.000199681	0	0.0014	5008	,	,		20901	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3											354	327	336					3																	98001888		2203	4300	6503	99484578	SO:0001583	missense	79310				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.157C>T	3.37:g.98001888C>T	ENSP00000347418:p.Leu53Phe		99484578	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.223	1.033777	0.19590	.	.	ENSG00000197938	ENST00000355273	T	0.03035	4.07	3.2	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.228496	0.22387	U	0.060725	T	0.18551	0.0445	M	0.93898	3.47	0.18873	N	0.999987	D	0.58620	0.983	P	0.58820	0.846	T	0.05273	-1.0895	10	0.87932	D	0	.	9.454	0.38743	0.0:0.5734:0.4266:0.0	.	53	Q8NGV7	OR5H2_HUMAN	F	53	ENSP00000347418:L53F	ENSP00000347418:L53F	L	+	1	0	OR5H2	99484578	0.000000	0.05858	0.852000	0.33557	0.008000	0.06430	-1.253000	0.02877	0.682000	0.31407	-0.258000	0.10820	CTT		0.428	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			T	98001888	C	T	98001888	3	4	140	1	0	0	0	0	1	0	0	0	11162	913	32	2	159	2	OR5H2	3	98001888	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08		98001888	100020542	15	7577											
MYH15	22989	broad.mit.edu	37	3	108205362	108205362	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr3:108205362C>T	ENST00000273353.3	-	11	999	c.943G>A	c.(943-945)Gta>Ata	p.V315I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	315	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V315I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTGCAGATACCAGGAGCAGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											82	82	82					3																	108205362		1876	4109	5985	109688052	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.943G>A	3.37:g.108205362C>T	ENSP00000273353:p.Val315Ile		109688052		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	1.379	-0.583858	0.03827	.	.	ENSG00000144821	ENST00000273353	T	0.70986	-0.53	5.66	-0.84	0.10755	Myosin head, motor domain (2);	.	.	.	.	T	0.37293	0.0998	N	0.02708	-0.52	0.29221	N	0.873955	B	0.26445	0.149	B	0.33960	0.173	T	0.44329	-0.9335	9	0.02654	T	1	.	2.832	0.05503	0.1014:0.4627:0.1981:0.2378	.	315	Q9Y2K3	MYH15_HUMAN	I	315	ENSP00000273353:V315I	ENSP00000273353:V315I	V	-	1	0	MYH15	109688052	0.006000	0.16342	0.066000	0.19879	0.546000	0.35178	-0.102000	0.10956	0.044000	0.15775	0.467000	0.42956	GTA		0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		T	108205362	C	T	108205362	3	4	140	1	0	0	0	0	1	0	0	0	10034	507	18	2	5025	2	MYH15	3	108205362	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	10203474	108205362	89817068	16	7578											
RNF13	11342	broad.mit.edu	37	3	149613278	149613278	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr3:149613278G>C	ENST00000344229.3	+	6	1042	c.340G>C	c.(340-342)Gca>Cca	p.A114P	RNF13_ENST00000392894.3_Missense_Mutation_p.A114P|RNF13_ENST00000361785.6_5'UTR	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	114	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A114P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGCACAGAGAGCAGGATACAA	0.343																																																1	Substitution - Missense(1)	ovary(1)	3											130	110	116					3																	149613278		2203	4300	6503	151095968	SO:0001583	missense	11342			AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"RING-type (C3HC4) zinc fingers"	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.340G>C	3.37:g.149613278G>C	ENSP00000341361:p.Ala114Pro		151095968	A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.024068	0.93462	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000490631	T;T;T;T;T;T	0.38560	2.8;2.8;1.13;2.8;2.8;2.8	5.57	5.57	0.84162	Protease-associated domain, PA (1);	0.203639	0.51477	D	0.000095	T	0.78336	0.4267	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.85349	0.1100	10	0.56958	D	0.05	-3.3091	19.6039	0.95574	0.0:0.0:1.0:0.0	.	114	O43567	RNF13_HUMAN	P	114	ENSP00000376628:A114P;ENSP00000341361:A114P;ENSP00000420067:A114P;ENSP00000419069:A114P;ENSP00000417655:A114P;ENSP00000417294:A114P	ENSP00000341361:A114P	A	+	1	0	RNF13	151095968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.400000	0.97290	2.627000	0.88993	0.644000	0.83932	GCA		0.343	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		C	149613278	G	C	149613278	3	2	140	1	0	0	0	0	1	0	0	0	13440	971	34	3	354	3	RNF13	3	149613278	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08	41407916	149613278	48409152	17	7579											
SI	6476	broad.mit.edu	37	3	164739171	164739171	+	Splice_Site	SNP	T	T	A			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr3:164739171T>A	ENST00000264382.3	-	27	3162	c.3100A>T	c.(3100-3102)Att>Ttt	p.I1034F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1034	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.I1034F(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGATCATAAATCTATTGCAGA	0.318										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	ovary(1)	3											175	178	177					3																	164739171		2203	4300	6503	166221865	SO:0001630	splice_region_variant	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3100-1A>T	3.37:g.164739171T>A			166221865	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934244	0.52866	.	.	ENSG00000090402	ENST00000264382	T	0.34472	1.36	4.58	4.58	0.56647	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.70791	-0.4776	10	0.59425	D	0.04	.	14.1202	0.65182	0.0:0.0:0.0:1.0	.	1034	P14410	SUIS_HUMAN	F	1034	ENSP00000264382:I1034F	ENSP00000264382:I1034F	I	-	1	0	SI	166221865	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	6.927000	0.75840	1.927000	0.55829	0.477000	0.44152	ATT		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Missense_Mutation	A	164739171	T	A	164739171	5	1	140	1	0	0	0	0	0	0	1	0	14300	1449	50	5	2471	5	SI	3	164739171	Splice_Site	SNP	T	TCGA-13-1496-01A-01W-0545-08	15125893	164739171	33283259	18	7580											
EVC2	132884	broad.mit.edu	37	4	5624324	5624324	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr4:5624324G>A	ENST00000344408.5	-	14	2494	c.2441C>T	c.(2440-2442)gCt>gTt	p.A814V	EVC2_ENST00000344938.1_Missense_Mutation_p.A814V|EVC2_ENST00000310917.2_Missense_Mutation_p.A734V	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	814					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A814V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGCCTCAGGAGCGTCATCCTT	0.642																																																1	Substitution - Missense(1)	ovary(1)	4											85	53	64					4																	5624324		2203	4300	6503	5675225	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2441C>T	4.37:g.5624324G>A	ENSP00000342144:p.Ala814Val		5675225	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250795	0.22880	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.76186	-1.0;-1.0;-1.0	4.05	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	L	0.56769	1.78	0.09310	N	1	B	0.34103	0.437	B	0.34590	0.186	T	0.53215	-0.8470	10	0.02654	T	1	-3.7379	9.261	0.37612	0.0:0.0:0.7852:0.2148	.	814	Q86UK5	LBN_HUMAN	V	814;734;814	ENSP00000339954:A814V;ENSP00000311683:A734V;ENSP00000342144:A814V	ENSP00000311683:A734V	A	-	2	0	EVC2	5675225	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.615000	0.24329	1.268000	0.44264	0.462000	0.41574	GCT		0.642	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		A	5624324	G	A	5624324	3	1	140	1	0	0	0	0	1	0	0	0	5286	971	34	2	1521	2	EVC2	4	5624324	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08		5624324	185529952	19	7581											
CDS1	1040	broad.mit.edu	37	4	85555073	85555073	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr4:85555073C>G	ENST00000295887.5	+	7	1126	c.703C>G	c.(703-705)Ctg>Gtg	p.L235V		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.L235V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CATCCAAAATCTGTTTGAAGG	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											171	141	151					4																	85555073		2203	4300	6503	85774097	SO:0001583	missense	1040			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.703C>G	4.37:g.85555073C>G	ENSP00000295887:p.Leu235Val		85774097	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707291	0.89018	.	.	ENSG00000163624	ENST00000295887	T	0.43294	0.95	5.96	5.96	0.96718	.	0.073024	0.64402	D	0.000019	T	0.43166	0.1235	L	0.33668	1.02	0.80722	D	1	P	0.46395	0.877	P	0.46885	0.53	T	0.05649	-1.0872	10	0.27082	T	0.32	-9.2274	20.394	0.98981	0.0:1.0:0.0:0.0	.	235	Q92903	CDS1_HUMAN	V	235	ENSP00000295887:L235V	ENSP00000295887:L235V	L	+	1	2	CDS1	85774097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.830000	0.97506	0.585000	0.79938	CTG		0.363	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			G	85555073	C	G	85555073	3	3	140	1	0	0	0	0	1	0	0	0	3177	912	32	3	729	3	CDS1	4	85555073	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	79930749	85555073	105599203	20	7582											
FABP2	2169	broad.mit.edu	37	4	120240727	120240727	+	Missense_Mutation	SNP	A	A	T	rs148746748		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr4:120240727A>T	ENST00000274024.3	-	3	599	c.312T>A	c.(310-312)aaT>aaA	p.N104K		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	104					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)	p.N104K(1)		breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	CTCGGACAGTATTCAGTTCGT	0.308																																																1	Substitution - Missense(1)	ovary(1)	4											129	121	124					4																	120240727		2203	4300	6503	120460175	SO:0001583	missense	2169			J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"Fatty acid binding protein family"	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.312T>A	4.37:g.120240727A>T	ENSP00000274024:p.Asn104Lys		120460175	Q2NKJ1	Missense_Mutation	SNP	ENST00000274024.3	37	CCDS3712.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.235250	0.22626	.	.	ENSG00000145384	ENST00000274024	T	0.08102	3.13	5.49	-0.298	0.12814	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.437376	0.28062	N	0.016744	T	0.02304	0.0071	N	0.03050	-0.425	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.38499	-0.9658	10	0.32370	T	0.25	.	0.0968	0.00045	0.2675:0.2511:0.2055:0.2758	.	104	P12104	FABPI_HUMAN	K	104	ENSP00000274024:N104K	ENSP00000274024:N104K	N	-	3	2	FABP2	120460175	0.005000	0.15991	0.029000	0.17559	0.865000	0.49528	-0.151000	0.10175	0.317000	0.23160	0.528000	0.53228	AAT		0.308	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134		T	120240727	A	T	120240727	3	4	140	1	0	0	0	0	1	0	0	0	5357	446	16	5	94	5	FABP2	4	120240727	Missense_Mutation	SNP	A	TCGA-13-1496-01A-01W-0545-08	34685654	120240727	70913549	21	7583											
NIPBL	25836	broad.mit.edu	37	5	36985864	36985864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr5:36985864C>A	ENST00000282516.8	+	10	3081	c.2582C>A	c.(2581-2583)tCa>tAa	p.S861*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.S861*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	861					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.S861*(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTGATAGTTCAAAAACTGAT	0.433																																																1	Substitution - Nonsense(1)	ovary(1)	5											47	46	46					5																	36985864		2203	4300	6503	37021621	SO:0001587	stop_gained	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2582C>A	5.37:g.36985864C>A	ENSP00000282516:p.Ser861*		37021621	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	43	9.928989	0.99298	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.99	5.99	0.97316	.	0.209202	0.34435	N	0.003967	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-9.1772	20.4777	0.99188	0.0:1.0:0.0:0.0	.	.	.	.	X	861	.	ENSP00000282516:S861X	S	+	2	0	NIPBL	37021621	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.619000	0.46401	2.840000	0.97914	0.655000	0.94253	TCA		0.433	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		A	36985864	C	A	36985864	4	1	140	1	0	0	0	0	0	1	0	0	10428	838	29	3	2616	3	NIPBL	5	36985864	Nonsense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08		36985864	143929396	22	7584											
CYP39A1	51302	broad.mit.edu	37	6	46563850	46563850	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr6:46563850A>T	ENST00000275016.2	-	8	1142	c.939T>A	c.(937-939)gaT>gaA	p.D313E		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	313					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)	p.D313E(1)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CTTTAATCTTATCTTTGCCTG	0.358																																																1	Substitution - Missense(1)	ovary(1)	6											51	56	55					6																	46563850		2202	4299	6501	46671809	SO:0001583	missense	51302			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.939T>A	6.37:g.46563850A>T	ENSP00000275016:p.Asp313Glu		46671809	Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	A	7.733	0.699731	0.15106	.	.	ENSG00000146233	ENST00000275016	T	0.76186	-1.0	5.64	-4.43	0.03568	.	0.574303	0.18355	N	0.143758	T	0.32615	0.0835	L	0.49350	1.555	0.25221	N	0.989906	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.20874	-1.0262	10	0.18276	T	0.48	-5.9476	0.9974	0.01470	0.2353:0.3568:0.1751:0.2328	.	293;313	B7Z786;Q9NYL5	.;CP39A_HUMAN	E	313	ENSP00000275016:D313E	ENSP00000275016:D313E	D	-	3	2	CYP39A1	46671809	0.749000	0.28305	0.968000	0.41197	0.049000	0.14656	-0.210000	0.09345	-0.580000	0.05944	0.455000	0.32223	GAT		0.358	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			T	46563850	A	T	46563850	3	4	140	1	0	0	0	0	1	0	0	0	4177	446	16	5	490	5	CYP39A1	6	46563850	Missense_Mutation	SNP	A	TCGA-13-1496-01A-01W-0545-08		46563850	124551217	23	7585											
PKHD1	5314	broad.mit.edu	37	6	51524031	51524031	+	Silent	SNP	A	A	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr6:51524031A>G	ENST00000371117.3	-	61	11168	c.10893T>C	c.(10891-10893)taT>taC	p.Y3631Y		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3631					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.Y3631Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAACTCTTCTATAATGACTAG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	6											122	121	121					6																	51524031		2203	4300	6503	51631990	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10893T>C	6.37:g.51524031A>G			51631990	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51524031	A	G	51524031	2	3	140	1	0	0	0	0	0	0	0	1	11971	456	16	4		4	PKHD1	6	51524031	Silent	SNP	A	TCGA-13-1496-01A-01W-0545-08	4960181	51524031	119591036	24	7586											
FAM184A	79632	broad.mit.edu	37	6	119301436	119301436	+	Missense_Mutation	SNP	G	G	A	rs372303662		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr6:119301436G>A	ENST00000338891.7	-	10	2611	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	FAM184A_ENST00000352896.5_Missense_Mutation_p.T603M|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.T603M|FAM184A_ENST00000521531.1_Missense_Mutation_p.T723M	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	723						extracellular space (GO:0005615)		p.T723R(1)|p.T723M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCGTTCTTGCGTAAACTGGGC	0.438													G|||	1	0.000199681	8e-04	0	5008	,	,		15752	0		0	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(1)|breast(1)	6						G	MET/THR,MET/THR	0,3804		0,0,1902	102	97	99		1808,2168	6.2	1	6		99	1,8243		0,1,4121	no	missense,missense	FAM184A	NM_001100411.1,NM_024581.4	81,81	0,1,6023	AA,AG,GG		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging	603/972,723/1141	119301436	1,12047	1902	4122	6024	119343135	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2168C>T	6.37:g.119301436G>A	ENSP00000342604:p.Thr723Met		119343135	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570526	0.86542	0.0	1.21E-4	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	6.17	6.17	0.99709	.	0.094566	0.64402	D	0.000001	T	0.37404	0.1002	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	P;P;D	0.63793	0.88;0.855;0.918	T	0.11767	-1.0574	10	0.56958	D	0.05	-15.6808	15.125	0.72475	0.0:0.2445:0.7555:0.0	.	723;603;723	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	M	723;603;603;723	ENSP00000342604:T723M;ENSP00000326608:T603M;ENSP00000357460:T603M;ENSP00000430442:T723M	ENSP00000342604:T723M	T	-	2	0	FAM184A	119343135	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	3.441000	0.52893	2.941000	0.99782	0.655000	0.94253	ACG		0.438	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		A	119301436	G	A	119301436	3	1	140	1	0	0	0	0	1	0	0	0	5511	1145	40	1	1290	1	FAM184A	6	119301436	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08	67777405	119301436	51813631	25	7587											
THBS2	7058	broad.mit.edu	37	6	169648555	169648555	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr6:169648555C>G	ENST00000366787.3	-	4	815	c.566G>C	c.(565-567)cGg>cCg	p.R189P		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	189	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R189P(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACGTACATCCGGCTCTTTTC	0.612																																					Esophageal Squamous(91;219 1934 18562 44706)											1	Substitution - Missense(1)	ovary(1)	6											101	104	103					6																	169648555		2203	4300	6503	169390480	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.566G>C	6.37:g.169648555C>G	ENSP00000355751:p.Arg189Pro		169390480	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036208	0.54896	.	.	ENSG00000186340	ENST00000366787	T	0.02197	4.4	4.5	3.6	0.41247	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.159155	0.28268	U	0.015970	T	0.02848	0.0085	M	0.68593	2.085	0.29727	N	0.838202	P	0.51057	0.941	P	0.52481	0.7	T	0.14952	-1.0454	10	0.62326	D	0.03	-39.3345	9.9005	0.41344	0.0:0.8357:0.0:0.1643	.	189	P35442	TSP2_HUMAN	P	189	ENSP00000355751:R189P	ENSP00000355751:R189P	R	-	2	0	THBS2	169390480	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	2.330000	0.43885	2.204000	0.70986	0.563000	0.77884	CGG		0.612	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		G	169648555	C	G	169648555	3	3	140	1	0	0	0	0	1	0	0	0	15854	652	23	3	3032	3	THBS2	6	169648555	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	50347119	169648555	1466512	26	7588											
C7orf16	10842	broad.mit.edu	37	7	31736586	31736586	+	Silent	SNP	T	T	C			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr7:31736586T>C	ENST00000342032.3	+	4	871	c.243T>C	c.(241-243)ttT>ttC	p.F81F	PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Silent_p.F30F	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	81					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.F81F(1)									CAGGTGTGTTTTCAGAACATT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	7											88	86	87					7																	31736586		2203	4300	6503	31703111	SO:0001819	synonymous_variant	10842			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.243T>C	7.37:g.31736586T>C			31703111	B4DE58|Q9UDQ0	Silent	SNP	ENST00000342032.3	37	CCDS5436.1																																																																																				0.373	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		C	31736586	T	C	31736586	2	2	140	1	0	0	0	0	0	0	0	1	2378	1838	64	4		4	C7orf16	7	31736586	Silent	SNP	T	TCGA-13-1496-01A-01W-0545-08		31736586	127402077	27	7589											
MAGI2	9863	broad.mit.edu	37	7	77789397	77789397	+	Silent	SNP	G	G	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr7:77789397G>T	ENST00000354212.4	-	16	3043	c.2790C>A	c.(2788-2790)ggC>ggA	p.G930G	MAGI2_ENST00000419488.1_Silent_p.G916G|MAGI2_ENST00000522391.1_Silent_p.G930G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	930	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.G930G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAAAGCCGAAGCCCTCATTCT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	7											103	95	98					7																	77789397		2203	4300	6503	77627333	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2790C>A	7.37:g.77789397G>T			77627333	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																				0.522	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	77789397	G	T	77789397	2	4	140	1	0	0	0	0	0	0	0	1	9191	958	34	3		3	MAGI2	7	77789397	Silent	SNP	G	TCGA-13-1496-01A-01W-0545-08	46052811	77789397	81349266	28	7590											
CALCR	799	broad.mit.edu	37	7	93108738	93108738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr7:93108738G>A	ENST00000394441.1	-	3	448	c.133C>T	c.(133-135)Cga>Tga	p.R45*	CALCR_ENST00000360249.4_Nonsense_Mutation_p.R45*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000359558.2_Nonsense_Mutation_p.R63*	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	63					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R45*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATCTTCTTTCGTCCTACGACG	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	7											242	224	230					7																	93108738		2203	4300	6503	92946674	SO:0001587	stop_gained	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.133C>T	7.37:g.93108738G>A	ENSP00000377959:p.Arg45*		92946674	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Nonsense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	36	5.639469	0.96693	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	.	.	.	5.21	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2636	0.54665	0.0:0.0:0.5273:0.4726	.	.	.	.	X	63;45;45;45;45;45	.	ENSP00000352561:R63X	R	-	1	2	CALCR	92946674	0.013000	0.17824	0.003000	0.11579	0.036000	0.12997	1.233000	0.32648	0.384000	0.24942	0.650000	0.86243	CGA		0.398	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		A	93108738	G	A	93108738	4	1	140	1	0	0	0	0	0	1	0	0	2579	1153	40	1	1387	1	CALCR	7	93108738	Nonsense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08	15319341	93108738	66029925	29	7591											
RB1CC1	9821	broad.mit.edu	37	8	53555083	53555085	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	CTT	CTT	-	-	CTT	CTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr8:53555083_53555085delCTT	ENST00000025008.5	-	18	4686_4688	c.4163_4165delAAG	c.(4162-4167)gaagtc>gtc	p.E1388del	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_In_Frame_Del_p.E1388del|RB1CC1_ENST00000435644.2_In_Frame_Del_p.E1388del	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1388					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.E1388del(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AACTTACTGACTTCTTCTTCAAG	0.409																																					GBM(180;1701 2102 13475 42023 52570)											1	Deletion - In frame(1)	ovary(1)	8																																								53717638	SO:0001651	inframe_deletion	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4163_4165delAAG	8.37:g.53555089_53555091delCTT	ENSP00000025008:p.Glu1388del		53717636	Q86YR4|Q8WVU9|Q92601	In_Frame_Del	DEL	ENST00000025008.5	37	CCDS34892.1																																																																																				0.409	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		-	53555085	CTT	-	53555083	7	5	140	1	0	1	0	1	0	0	0	0	13102	565	20	0	647	0	RB1CC1	8	53555083	In_Frame_Del	DEL	CTT	TCGA-13-1496-01A-01W-0545-08		53555083	92808939	30	7592											
KCNS2	3788	broad.mit.edu	37	8	99441338	99441338	+	Silent	SNP	C	C	T	rs371574913		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr8:99441338C>T	ENST00000287042.4	+	2	1481	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	KCNS2_ENST00000521839.1_Silent_p.Y377Y	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	377					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.Y377Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CAGTGGGGTACGGGGATGTGG	0.612																																					Pancreas(138;844 2489 9202 24627)											1	Substitution - coding silent(1)	ovary(1)	8						C		0,4406		0,0,2203	89	84	86		1131	-5.5	0.8	8		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNS2	NM_020697.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		377/478	99441338	1,13005	2203	4300	6503	99510514	SO:0001819	synonymous_variant	3788			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1131C>T	8.37:g.99441338C>T			99510514	A8KAN1	Silent	SNP	ENST00000287042.4	37	CCDS6279.1																																																																																				0.612	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		T	99441338	C	T	99441338	2	4	140	1	0	0	0	0	0	0	0	1	8089	547	19	1		1	KCNS2	8	99441338	Silent	SNP	C	TCGA-13-1496-01A-01W-0545-08	45886255	99441338	46922684	31	7593											
COL22A1	169044	broad.mit.edu	37	8	139815148	139815148	+	Silent	SNP	G	G	A			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr8:139815148G>A	ENST00000303045.6	-	11	1970	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	COL22A1_ENST00000435777.1_Silent_p.G508G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	508	Collagen-like 1.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G508G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCCAGGAGCGCCAACCGGCC	0.602										HNSCC(7;0.00092)																																						1	Substitution - coding silent(1)	ovary(1)	8											143	120	128					8																	139815148		2203	4300	6503	139884330	SO:0001819	synonymous_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1524C>T	8.37:g.139815148G>A			139884330	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139815148	G	A	139815148	2	1	140	1	0	0	0	0	0	0	0	1	3681	1074	38	1		1	COL22A1	8	139815148	Silent	SNP	G	TCGA-13-1496-01A-01W-0545-08	40373810	139815148	6548874	32	7594											
PTGDS	5730	broad.mit.edu	37	9	139874450	139874450	+	Nonsense_Mutation	SNP	C	C	A	rs373555075		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr9:139874450C>A	ENST00000371625.3	+	4	458	c.384C>A	c.(382-384)taC>taA	p.Y128*	LCNL1_ENST00000408973.2_5'Flank|PTGDS_ENST00000224167.2_Nonsense_Mutation_p.Y162*	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	128					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)	p.Y128*(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGACCAGTACGCGCTGCTGT	0.657																																																1	Substitution - Nonsense(1)	ovary(1)	9											87	90	89					9																	139874450		2203	4300	6503	138994271	SO:0001587	stop_gained	5730			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"Lipocalins"	9592	protein-coding gene	gene with protein product	"lipocalin-type prostaglandin D synthase"	176803	"prostaglandin D2 synthase (21kD, brain)"			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.384C>A	9.37:g.139874450C>A	ENSP00000360687:p.Tyr128*		138994271	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Nonsense_Mutation	SNP	ENST00000371625.3	37	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.37|18.37	3.610063|3.610063	0.66558|0.66558	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000446677|ENST00000224167;ENST00000457950;ENST00000371625	.|.	.|.	.|.	4.83|4.83	-0.394|-0.394	0.12434|0.12434	.|.	.|0.209828	.|0.33327	.|N	.|0.005026	T|.	0.16041|.	0.0386|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42396|.	-0.9454|.	3|.	.|0.02654	.|T	.|1	-39.6894|-39.6894	7.854|7.854	0.29472|0.29472	0.0:0.5333:0.0:0.4667|0.0:0.5333:0.0:0.4667	.|.	.|.	.|.	.|.	S|X	151|162;162;128	.|.	.|ENSP00000224167:Y162X	R|Y	+|+	1|3	0|2	PTGDS|PTGDS	138994271|138994271	0.000000|0.000000	0.05858|0.05858	0.053000|0.053000	0.19242|0.19242	0.014000|0.014000	0.08584|0.08584	-2.334000|-2.334000	0.01107|0.01107	-0.290000|-0.290000	0.09025|0.09025	-0.141000|-0.141000	0.14075|0.14075	CGC|TAC		0.657	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		A	139874450	C	A	139874450	4	1	140	1	0	0	0	0	0	1	0	0	12745	547	19	3	398	3	PTGDS	9	139874450	Nonsense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08		139874450	1338981	33	7595											
KIAA0913	23053	broad.mit.edu	37	10	75557149	75557149	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr10:75557149G>C	ENST00000605216.1	+	18	3650	c.3433G>C	c.(3433-3435)Gac>Cac	p.D1145H	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.D1145H|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.D1150H|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.D1112H|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.D1150H	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1145	Ser-rich.						zinc ion binding (GO:0008270)										GGCCAGCATTGACAGCAGTGC	0.562																																																0			10											63	64	64					10																	75557149		2011	4183	6194	75227155	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3433G>C	10.37:g.75557149G>C	ENSP00000474748:p.Asp1145His		75227155	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.39|18.39|18.39	3.614095|3.614095|3.614095	0.66672|0.66672|0.66672	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198|ENST00000433366	T|.|.	0.51325|.|.	0.71|.|.	4.92|4.92|4.92	4.92|4.92|4.92	0.64577|0.64577|0.64577	.|.|.	0.000000|.|.	0.64402|.|.	U|.|.	0.000002|.|.	T|T|.	0.74107|0.74107|.	0.3673|0.3673|.	M|M|M	0.66939|0.66939|0.66939	2.045|2.045|2.045	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.85130|.|.	0.997;0.971;0.997;0.997|.|.	T|T|.	0.73122|0.73122|.	-0.4082|-0.4082|.	10|5|.	0.72032|.|.	D|.|.	0.01|.|.	-9.2164|-9.2164|-9.2164	18.3155|18.3155|18.3155	0.90220|0.90220|0.90220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1145;1157;1145;1150|.|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.|.	K0913_HUMAN;.;.;.|.|.	H|F|S	1150|419|860	ENSP00000381693:D1150H|.|.	ENSP00000381693:D1150H|.|.	D|L|X	+|+|+	1|3|2	0|2|2	KIAA0913|KIAA0913|KIAA0913	75227155|75227155|75227155	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	9.051000|9.051000|9.051000	0.93849|0.93849|0.93849	2.563000|2.563000|2.563000	0.86464|0.86464|0.86464	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|TTG|TGA		0.562	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		C	75557149	G	C	75557149	3	2	140	1	0	0	0	0	1	0	0	0	8200	1290	45	3	3518	3	KIAA0913	10	75557149	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08		75557149	59977598	34	7596											
PTPRJ	5795	broad.mit.edu	37	11	48146657	48146657	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr11:48146657G>A	ENST00000418331.2	+	6	1364	c.1012G>A	c.(1012-1014)Ggc>Agc	p.G338S	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G338S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	338	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.G338S(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTAGAGCCTGGCACCCGATA	0.572																																																1	Substitution - Missense(1)	ovary(1)	11											88	93	91					11																	48146657		2201	4298	6499	48103233	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1012G>A	11.37:g.48146657G>A	ENSP00000400010:p.Gly338Ser		48103233	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607781	0.66558	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.07327	3.2;3.2	5.38	-0.821	0.10822	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08582	0.0213	L	0.34521	1.04	0.09310	N	1	B;P	0.42010	0.354;0.768	B;P	0.45232	0.156;0.474	T	0.31223	-0.9951	9	0.49607	T	0.09	.	8.3638	0.32374	0.5251:0.0:0.4749:0.0	.	338;338	Q12913;Q6P4H4	PTPRJ_HUMAN;.	S	338	ENSP00000400010:G338S;ENSP00000409733:G338S	ENSP00000278456:G338S	G	+	1	0	PTPRJ	48103233	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.341000	0.19909	-0.197000	0.10350	0.563000	0.77884	GGC		0.572	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			A	48146657	G	A	48146657	3	1	140	1	0	0	0	0	1	0	0	0	12807	1348	47	2	1034	2	PTPRJ	11	48146657	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08		48146657	86859859	35	7597											
KIAA1377	57562	broad.mit.edu	37	11	101815106	101815106	+	Missense_Mutation	SNP	G	G	A	rs148228595		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr11:101815106G>A	ENST00000263468.8	+	3	629	c.359G>A	c.(358-360)cGt>cAt	p.R120H		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	120								p.R120H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAATTCCAGCGTGCCCATGTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	79	80		359	6	1	11	dbSNP_134	80	4,8594	3.0+/-9.4	0,4,4295	yes	missense	KIAA1377	NM_020802.2	29	0,5,6497	AA,AG,GG		0.0465,0.0227,0.0384	probably-damaging	120/1118	101815106	5,12999	2203	4299	6502	101320316	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.359G>A	11.37:g.101815106G>A	ENSP00000263468:p.Arg120His		101320316	Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897420	0.91962	2.27E-4	4.65E-4	ENSG00000110318	ENST00000263468	T	0.30182	1.54	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58601	-0.7608	10	0.66056	D	0.02	-13.3359	19.3185	0.94226	0.0:0.0:1.0:0.0	.	120	Q9P2H0	K1377_HUMAN	H	120	ENSP00000263468:R120H	ENSP00000263468:R120H	R	+	2	0	KIAA1377	101320316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.444000	0.73452	2.850000	0.98022	0.650000	0.86243	CGT		0.358	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		A	101815106	G	A	101815106	3	1	140	1	0	0	0	0	1	0	0	0	8227	1145	40	1	369	1	KIAA1377	11	101815106	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08	53668449	101815106	33191410	36	7598											
HOXC6	3223	broad.mit.edu	37	12	54423477	54423477	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr12:54423477A>C	ENST00000243108.4	+	2	603	c.439A>C	c.(439-441)Atc>Ctc	p.I147L	HOXC6_ENST00000394331.3_Missense_Mutation_p.I65L|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	147					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.I147L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGGCCGCCAGATCTACTCGCG	0.582																																																1	Substitution - Missense(1)	ovary(1)	12											71	77	75					12																	54423477		2203	4300	6503	52709744	SO:0001583	missense	3223				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"Homeoboxes / ANTP class : HOXL subclass"	5128	protein-coding gene	gene with protein product		142972	"homeo box C6"	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.439A>C	12.37:g.54423477A>C	ENSP00000243108:p.Ile147Leu		52709744	B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.479702	0.63849	.	.	ENSG00000197757	ENST00000394331;ENST00000243108	D;D	0.96041	-3.89;-3.89	4.69	4.69	0.59074	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	N	0.12471	0.22	0.80722	D	1	B	0.29936	0.262	B	0.29440	0.102	D	0.89243	0.3585	10	0.87932	D	0	.	13.2733	0.60175	1.0:0.0:0.0:0.0	.	147	P09630	HXC6_HUMAN	L	65;147	ENSP00000377864:I65L;ENSP00000243108:I147L	ENSP00000243108:I147L	I	+	1	0	HOXC6	52709744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.242000	0.78210	1.971000	0.57363	0.459000	0.35465	ATC		0.582	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			C	54423477	A	C	54423477	3	2	140	1	0	0	0	0	1	0	0	0	7315	333	12	5	445	5	HOXC6	12	54423477	Missense_Mutation	SNP	A	TCGA-13-1496-01A-01W-0545-08		54423477	79428418	37	7599											
XRCC6BP1	91419	broad.mit.edu	37	12	58340808	58340808	+	Silent	SNP	C	C	T	rs201097826		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr12:58340808C>T	ENST00000300145.3	+	3	389	c.264C>T	c.(262-264)tgC>tgT	p.C88C		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	88					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.C88C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						ACTTTTCTTGCGAAGACTGTA	0.423													C|||	1	0.000199681	8e-04	0	5008	,	,		19714	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	12						C		4,3780		0,4,1888	200	186	190		264	-0.8	1	12		190	0,8246		0,0,4123	yes	coding-synonymous	XRCC6BP1	NM_033276.2		0,4,6011	TT,TC,CC		0.0,0.1057,0.0333		88/247	58340808	4,12026	1892	4123	6015	56627075	SO:0001819	synonymous_variant	91419			AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"Ku70 binding protein 3"					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.264C>T	12.37:g.58340808C>T			56627075	Q1RLM4|Q96E81	Silent	SNP	ENST00000300145.3	37	CCDS41802.1																																																																																				0.423	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		T	58340808	C	T	58340808	2	4	140	1	0	0	0	0	0	0	0	1	17458	776	27	1		1	XRCC6BP1	12	58340808	Silent	SNP	C	TCGA-13-1496-01A-01W-0545-08	3917331	58340808	75511087	38	7600											
USP15	9958	broad.mit.edu	37	12	62785021	62785021	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr12:62785021A>C	ENST00000280377.5	+	16	2103	c.2045A>C	c.(2044-2046)gAt>gCt	p.D682A	USP15_ENST00000393654.3_Missense_Mutation_p.D657A|USP15_ENST00000353364.3_Missense_Mutation_p.D653A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	682	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D653A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAGTCTGAAGATTCAGTTGGA	0.383																																					Melanoma(181;615 2041 39364 49691 50001)											1	Substitution - Missense(1)	ovary(1)	12											82	81	81					12																	62785021		2203	4300	6503	61071288	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2045A>C	12.37:g.62785021A>C	ENSP00000280377:p.Asp682Ala		61071288	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400268	0.42613	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19250	2.17;2.16;2.16	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.37507	1.11	0.80722	D	1	D;B	0.56287	0.975;0.029	P;B	0.52957	0.714;0.017	T	0.01071	-1.1461	9	.	.	.	-18.8791	15.7764	0.78224	1.0:0.0:0.0:0.0	.	682;653	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	A	653;682;657	ENSP00000258123:D653A;ENSP00000280377:D682A;ENSP00000377264:D657A	.	D	+	2	0	USP15	61071288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.669000	0.91163	2.135000	0.66039	0.460000	0.39030	GAT		0.383	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		C	62785021	A	C	62785021	3	2	140	1	0	0	0	0	1	0	0	0	17046	333	12	5	2016	5	USP15	12	62785021	Missense_Mutation	SNP	A	TCGA-13-1496-01A-01W-0545-08	4444213	62785021	71066874	39	7601											
ANO4	121601	broad.mit.edu	37	12	101490398	101490398	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr12:101490398C>T	ENST00000392977.3	+	19	2033	c.1823C>T	c.(1822-1824)aCa>aTa	p.T608I	ANO4_ENST00000550015.1_Missense_Mutation_p.T128I|ANO4_ENST00000392979.3_Missense_Mutation_p.T573I|ANO4_ENST00000299222.9_Missense_Mutation_p.T128I			Q32M45	ANO4_HUMAN	anoctamin 4	608					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.T573I(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AACAGCTCCACATTTTACATC	0.493										HNSCC(74;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											126	114	118					12																	101490398		2203	4300	6503	100014529	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1823C>T	12.37:g.101490398C>T	ENSP00000376703:p.Thr608Ile		100014529	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	C	4.424	0.078500	0.08533	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.78	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	N	0.00422	-1.515	0.49915	D	0.999839	B;B;B	0.21225	0.007;0.053;0.015	B;B;B	0.28011	0.013;0.085;0.03	T	0.40572	-0.9556	10	0.02654	T	1	.	14.5594	0.68126	0.0:0.9292:0.0:0.0708	.	128;608;573	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	I	573;128;608;128	ENSP00000376705:T573I;ENSP00000299222:T128I;ENSP00000376703:T608I;ENSP00000450192:T128I	ENSP00000299222:T128I	T	+	2	0	ANO4	100014529	0.996000	0.38824	0.962000	0.40283	0.926000	0.56050	3.356000	0.52269	1.458000	0.47871	0.563000	0.77884	ACA		0.493	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		T	101490398	C	T	101490398	3	4	140	1	0	0	0	0	1	0	0	0	699	478	17	2	1784	2	ANO4	12	101490398	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	38705377	101490398	32361497	40	7602											
MYL2	4633	broad.mit.edu	37	12	111356989	111356989	+	Silent	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr12:111356989C>T	ENST00000228841.8	-	2	59	c.12G>A	c.(10-12)aaG>aaA	p.K4K	MYL2_ENST00000548438.1_Silent_p.K4K	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	4					cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)	p.K4K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCTTTGCTTTCTTAGGTGCCT	0.498																																					GBM(14;268 426 18829 21617 25540)											1	Substitution - coding silent(1)	ovary(1)	12											64	62	63					12																	111356989		2203	4300	6503	109841372	SO:0001819	synonymous_variant	4633				CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"Myosins / Light chain", "EF-hand domain containing"	7583	protein-coding gene	gene with protein product	"cardiac ventricular myosin light chain 2"	160781	"myosin, light polypeptide 2, regulatory, cardiac, slow"			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.12G>A	12.37:g.111356989C>T			109841372	Q16123	Silent	SNP	ENST00000228841.8	37	CCDS31901.1																																																																																				0.498	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		T	111356989	C	T	111356989	2	4	140	1	0	0	0	0	0	0	0	1	10047	912	32	2		2	MYL2	12	111356989	Silent	SNP	C	TCGA-13-1496-01A-01W-0545-08	9866591	111356989	22494906	41	7603											
SERPINA3	12	broad.mit.edu	37	14	95085792	95085792	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr14:95085792T>C	ENST00000467132.1	+	3	2052	c.904T>C	c.(904-906)Tct>Cct	p.S302P	SERPINA3_ENST00000393078.3_Missense_Mutation_p.S302P|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S302P|SERPINA3_ENST00000482740.1_Missense_Mutation_p.S84P|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	302					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S302P(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GTGGAGAGACTCTCTGGAGTT	0.567																																																1	Substitution - Missense(1)	ovary(1)	14											60	55	57					14																	95085792		2203	4300	6503	94155545	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.904T>C	14.37:g.95085792T>C	ENSP00000450540:p.Ser302Pro		94155545	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.608636	0.28623	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	4.79	3.64	0.41730	Serpin domain (3);	0.395926	0.21005	N	0.081788	T	0.80649	0.4663	L	0.41027	1.25	0.09310	N	1	B;B	0.27791	0.133;0.189	B;B	0.38616	0.129;0.277	T	0.71889	-0.4456	10	0.54805	T	0.06	.	5.988	0.19444	0.0:0.209:0.0:0.791	.	302;327	P01011;G3V5I3	AACT_HUMAN;.	P	327;302;302;302;302;84	ENSP00000452367:S327P;ENSP00000376793:S302P;ENSP00000376795:S302P;ENSP00000450540:S302P;ENSP00000451119:S84P	ENSP00000376793:S302P	S	+	1	0	SERPINA3	94155545	0.000000	0.05858	0.013000	0.15412	0.010000	0.07245	0.112000	0.15479	0.840000	0.34995	0.459000	0.35465	TCT		0.567	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		C	95085792	T	C	95085792	3	2	140	1	0	0	0	0	1	0	0	0	14093	1551	54	4	910	4	SERPINA3	14	95085792	Missense_Mutation	SNP	T	TCGA-13-1496-01A-01W-0545-08		95085792	12263748	42	7604											
BDKRB2	624	broad.mit.edu	37	14	96707252	96707252	+	Missense_Mutation	SNP	G	G	A	rs201760673		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr14:96707252G>A	ENST00000306005.3	+	3	783	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	BDKRB2_ENST00000554311.1_Missense_Mutation_p.R196Q|BDKRB2_ENST00000539359.1_Missense_Mutation_p.R169Q|BDKRB2_ENST00000542454.2_Missense_Mutation_p.R169Q|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	196					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.R196Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTGGTGTTCCGGACCATGAAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	14											111	93	99					14																	96707252		2203	4300	6503	95777005	SO:0001583	missense	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.587G>A	14.37:g.96707252G>A	ENSP00000307713:p.Arg196Gln		95777005		Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167607	0.94768	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.75264	2.295	0.51767	D	0.999931	D	0.89917	1.0	D	0.97110	1.0	T	0.65829	-0.6073	10	0.56958	D	0.05	-39.987	18.0446	0.89328	0.0:0.0:1.0:0.0	.	196	P30411	BKRB2_HUMAN	Q	169;196;196;169	ENSP00000439459:R169Q;ENSP00000450482:R196Q;ENSP00000307713:R196Q;ENSP00000438376:R169Q	ENSP00000307713:R196Q	R	+	2	0	BDKRB2	95777005	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.695000	0.98691	2.332000	0.79248	0.561000	0.74099	CGG		0.587	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			A	96707252	G	A	96707252	3	1	140	1	0	0	0	0	1	0	0	0	1393	1116	39	1	593	1	BDKRB2	14	96707252	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08	1621460	96707252	10642288	43	7605											
FANCI	55215	broad.mit.edu	37	15	89833454	89833454	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr15:89833454A>G	ENST00000310775.7	+	19	1918	c.1832A>G	c.(1831-1833)gAt>gGt	p.D611G	FANCI_ENST00000300027.8_Missense_Mutation_p.D611G	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	611					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.D611G(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GGGTTTTATGATGTTCTTCGA	0.343								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							1	Substitution - Missense(1)	ovary(1)	15											127	128	128					15																	89833454		2200	4299	6499	87634458	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1832A>G	15.37:g.89833454A>G	ENSP00000310842:p.Asp611Gly		87634458	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413782	0.83449	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.34472	1.36;1.36;1.36	5.18	5.18	0.71444	.	0.046594	0.85682	D	0.000000	T	0.58850	0.2151	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.71184	0.97;0.972;0.972	T	0.62877	-0.6761	10	0.62326	D	0.03	-19.064	13.7668	0.62999	1.0:0.0:0.0:0.0	.	611;611;611	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	G	611	ENSP00000300027:D611G;ENSP00000310842:D611G;ENSP00000413249:D611G	ENSP00000300027:D611G	D	+	2	0	FANCI	87634458	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.353000	0.73032	2.172000	0.68678	0.533000	0.62120	GAT		0.343	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		G	89833454	A	G	89833454	3	3	140	1	0	0	0	0	1	0	0	0	5669	333	12	4	1902	4	FANCI	15	89833454	Missense_Mutation	SNP	A	TCGA-13-1496-01A-01W-0545-08		89833454	12697938	44	7606											
HYDIN	54768	broad.mit.edu	37	16	71004449	71004449	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr16:71004449C>G	ENST00000393567.2	-	36	5743	c.5593G>C	c.(5593-5595)Gat>Cat	p.D1865H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1865					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.D1816H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACTGCTGATCAAATTCTAAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	16											37	37	37					16																	71004449		1803	4051	5854	69561950	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5593G>C	16.37:g.71004449C>G	ENSP00000377197:p.Asp1865His		69561950	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456800	0.84317	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.43688	0.94	4.65	4.65	0.58169	.	0.000000	0.34411	U	0.003995	T	0.68247	0.2980	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74867	-0.3518	10	0.87932	D	0	.	17.4637	0.87626	0.0:1.0:0.0:0.0	.	1864	F8WD23	.	H	1865;1864	ENSP00000377197:D1865H	ENSP00000310485:D156H	D	-	1	0	HYDIN	69561950	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.484000	0.81180	2.311000	0.77944	0.505000	0.49811	GAT		0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	71004449	C	G	71004449	3	3	140	1	0	0	0	0	1	0	0	0	7467	826	29	3	9976	3	HYDIN	16	71004449	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08		71004449	19350304	45	7607											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	140	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08		7577538	73617672	46	7608											
LIG3	3980	broad.mit.edu	37	17	33326340	33326340	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr17:33326340A>G	ENST00000378526.4	+	15	2261	c.2128A>G	c.(2128-2130)Atc>Gtc	p.I710V	LIG3_ENST00000262327.5_Missense_Mutation_p.I710V	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	710					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.I623V(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CATGATGTCAATCTTCCTCAT	0.612								Other BER factors																																								1	Substitution - Missense(1)	ovary(1)	17											71	52	58					17																	33326340		2203	4300	6503	30350453	SO:0001583	missense	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2128A>G	17.37:g.33326340A>G	ENSP00000367787:p.Ile710Val		30350453	Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	A	8.896	0.955088	0.18507	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.62639	0.01;0.01	5.65	5.65	0.86999	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);DNA ligase, ATP-dependent, central (1);Nucleic acid-binding, OB-fold (1);	0.043847	0.85682	D	0.000000	T	0.40909	0.1136	N	0.02736	-0.51	0.53688	D	0.999977	B;B	0.23806	0.091;0.033	B;B	0.27887	0.084;0.07	T	0.38023	-0.9680	10	0.36615	T	0.2	-20.4204	15.2098	0.73214	1.0:0.0:0.0:0.0	.	710;710	P49916;E5KLB6	DNLI3_HUMAN;.	V	710	ENSP00000367787:I710V;ENSP00000262327:I710V	ENSP00000262327:I710V	I	+	1	0	LIG3	30350453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.914000	0.92735	2.371000	0.80710	0.533000	0.62120	ATC		0.612	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		G	33326340	A	G	33326340	3	3	140	1	0	0	0	0	1	0	0	0	8782	101	4	4	2182	4	LIG3	17	33326340	Missense_Mutation	SNP	A	TCGA-13-1496-01A-01W-0545-08	25748802	33326340	47868870	47	7609											
DNAI2	64446	broad.mit.edu	37	17	72301457	72301457	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr17:72301457C>T	ENST00000311014.6	+	9	1154	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	DNAI2_ENST00000307504.5_Missense_Mutation_p.H220Y|RP11-647F2.2_ENST00000585167.1_RNA|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000446837.2_Missense_Mutation_p.H363Y|DNAI2_ENST00000579490.1_Missense_Mutation_p.H420Y|DNAI2_ENST00000582036.1_Missense_Mutation_p.H363Y			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	363					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.H363Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTTCCCGGGCCATCATGGCCC	0.592									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	17											91	79	83					17																	72301457		2203	4300	6503	69813052	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1087C>T	17.37:g.72301457C>T	ENSP00000308312:p.His363Tyr		69813052	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868635	0.91587	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.15487	2.42;2.42;2.42	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.93150	3.385	0.80722	D	1	P	0.50617	0.937	P	0.61940	0.896	T	0.65915	-0.6052	10	0.62326	D	0.03	-43.5835	18.2776	0.90088	0.0:1.0:0.0:0.0	.	363	Q9GZS0	DNAI2_HUMAN	Y	363;220;363	ENSP00000308312:H363Y;ENSP00000302929:H220Y;ENSP00000400252:H363Y	ENSP00000302929:H220Y	H	+	1	0	DNAI2	69813052	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.465000	0.80898	2.315000	0.78130	0.556000	0.70494	CAT		0.592	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		T	72301457	C	T	72301457	3	4	140	1	0	0	0	0	1	0	0	0	4610	594	21	2	1117	2	DNAI2	17	72301457	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	38975117	72301457	8893753	48	7610											
SMCHD1	23347	broad.mit.edu	37	18	2697985	2697985	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr18:2697985C>T	ENST00000320876.6	+	10	1626	c.1288C>T	c.(1288-1290)Cat>Tat	p.H430Y	SMCHD1_ENST00000261598.8_Missense_Mutation_p.H430Y|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	430					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.H430Y(2)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATCCGTTATCATCCATTCTT	0.348																																																2	Substitution - Missense(2)	ovary(2)	18											163	146	151					18																	2697985		1891	4123	6014	2687985	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1288C>T	18.37:g.2697985C>T	ENSP00000326603:p.His430Tyr		2687985	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921384	0.52653	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26660	1.72;1.74	5.14	5.14	0.70334	.	.	.	.	.	T	0.37679	0.1012	N	0.19112	0.55	0.44508	D	0.997457	D	0.69078	0.997	D	0.75484	0.986	T	0.19257	-1.0311	9	0.39692	T	0.17	.	18.973	0.92722	0.0:1.0:0.0:0.0	.	430	A6NHR9	SMHD1_HUMAN	Y	430	ENSP00000326603:H430Y;ENSP00000261598:H430Y	ENSP00000261598:H430Y	H	+	1	0	SMCHD1	2687985	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.127000	0.77210	2.528000	0.85240	0.561000	0.74099	CAT		0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			T	2697985	C	T	2697985	3	4	140	1	0	0	0	0	1	0	0	0	14791	826	29	2	1326	2	SMCHD1	18	2697985	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08		2697985	75379263	49	7611											
FHOD3	80206	broad.mit.edu	37	18	34340641	34340641	+	Missense_Mutation	SNP	C	C	T	rs141169952		TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr18:34340641C>T	ENST00000359247.4	+	22	3920	c.3920C>T	c.(3919-3921)gCg>gTg	p.A1307V	FHOD3_ENST00000591635.1_Missense_Mutation_p.A520V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1286V|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1324V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1507V|FHOD3_ENST00000592128.1_Missense_Mutation_p.A303V	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1307					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.A1324V(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCGGAGGACGCGGCTGAGCAC	0.652																																																1	Substitution - Missense(1)	ovary(1)	18						C	VAL/ALA	1,4405		0,1,2202	46	47	47		3971	5	1	18	dbSNP_134	47	0,8596		0,0,4298	yes	missense	FHOD3	NM_025135.2	64	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1324/1440	34340641	1,13001	2203	4298	6501	32594639	SO:0001583	missense	80206			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3920C>T	18.37:g.34340641C>T	ENSP00000352186:p.Ala1307Val		32594639	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	18.56	3.649802	0.67358	2.27E-4	0.0	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.33865	1.41;1.39;1.4	5.04	5.04	0.67666	Actin-binding FH2/DRF autoregulatory (1);	0.047947	0.85682	D	0.000000	T	0.50718	0.1632	L	0.43554	1.36	0.51482	D	0.999921	D;D;P	0.89917	1.0;1.0;0.744	D;D;B	0.69307	0.963;0.918;0.167	T	0.47812	-0.9088	10	0.48119	T	0.1	.	15.1009	0.72276	0.0:1.0:0.0:0.0	.	1286;1307;1324	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	V	1324;1307;1286	ENSP00000257209:A1324V;ENSP00000352186:A1307V;ENSP00000411430:A1286V	ENSP00000257209:A1324V	A	+	2	0	FHOD3	32594639	1.000000	0.71417	0.983000	0.44433	0.648000	0.38561	4.356000	0.59430	2.345000	0.79718	0.462000	0.41574	GCG		0.652	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		T	34340641	C	T	34340641	3	4	140	1	0	0	0	0	1	0	0	0	5883	768	27	1	4061	1	FHOD3	18	34340641	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	31642656	34340641	43736607	50	7612											
PDCD5	9141	broad.mit.edu	37	19	33076810	33076810	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr19:33076810G>C	ENST00000590247.2	+	4	449	c.255G>C	c.(253-255)gaG>gaC	p.E85D	PDCD5_ENST00000419343.3_Missense_Mutation_p.E85D|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.E47D	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	85					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E85D(1)		breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AACTAAGTGAGAAGGTAAGCT	0.363																																																1	Substitution - Missense(1)	ovary(1)	19											104	108	106					19																	33076810		2203	4300	6503	37768650	SO:0001583	missense	9141			AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"TFAR19 novel apoptosis-related", "TF1 cell apoptosis-related gene 19"	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.255G>C	19.37:g.33076810G>C	ENSP00000466214:p.Glu85Asp		37768650	B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223894	0.39300	.	.	ENSG00000105185	ENST00000419343;ENST00000221784	.	.	.	5.6	4.56	0.56223	.	0.148836	0.64402	D	0.000011	T	0.30166	0.0756	L	0.43598	1.365	0.26512	N	0.974579	B;B	0.26708	0.003;0.157	B;B	0.25987	0.042;0.065	T	0.09707	-1.0662	9	0.19147	T	0.46	-14.8081	7.0422	0.25027	0.1417:0.1502:0.7081:0.0	.	85;85	O14737;B4DE64	PDCD5_HUMAN;.	D	85	.	ENSP00000221784:E85D	E	+	3	2	PDCD5	37768650	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	0.762000	0.26503	2.618000	0.88619	0.563000	0.77884	GAG		0.363	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		C	33076810	G	C	33076810	3	2	140	1	0	0	0	0	1	0	0	0	11622	933	33	3	269	3	PDCD5	19	33076810	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08		33076810	26052173	51	7613											
ZNF586	54807	broad.mit.edu	37	19	58291154	58291154	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr19:58291154C>T	ENST00000396154.2	+	3	1372	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_Missense_Mutation_p.P357L|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_3'UTR	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P400L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAATGAGGCCTTATAAGTGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											65	63	64					19																	58291154		2107	4249	6356	62982966	SO:0001583	missense	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.1199C>T	19.37:g.58291154C>T	ENSP00000379458:p.Pro400Leu		62982966	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093696	0.36952	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.12569	2.67;2.69	1.53	0.344	0.16006	Zinc finger, C2H2 (1);	.	.	.	.	T	0.25644	0.0624	L	0.41961	1.31	0.31783	N	0.630633	D	0.89917	1.0	D	0.97110	1.0	T	0.16660	-1.0395	9	0.59425	D	0.04	.	9.6334	0.39793	0.0:0.857:0.0:0.143	.	400	Q9NXT0	ZN586_HUMAN	L	400;357;400	ENSP00000375583:P357L;ENSP00000379458:P400L	ENSP00000375583:P357L	P	+	2	0	ZNF586	62982966	0.812000	0.29077	0.005000	0.12908	0.001000	0.01503	1.471000	0.35365	-0.524000	0.06400	-1.119000	0.02030	CCT		0.438	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		T	58291154	C	T	58291154	3	4	140	1	0	0	0	0	1	0	0	0	18019	681	24	2	1209	2	ZNF586	19	58291154	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08	25214344	58291154	837829	52	7614											
ZNF334	55713	broad.mit.edu	37	20	45130463	45130463	+	Silent	SNP	A	A	G			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr20:45130463A>G	ENST00000347606.4	-	5	1697	c.1515T>C	c.(1513-1515)agT>agC	p.S505S	ZNF334_ENST00000457685.2_Silent_p.S467S|ZNF334_ENST00000593880.1_Silent_p.S528S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	505					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.S505S(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTTACACTGACTGCAGTTTG	0.393																																																1	Substitution - coding silent(1)	ovary(1)	20											166	154	158					20																	45130463		2203	4299	6502	44563870	SO:0001819	synonymous_variant	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1515T>C	20.37:g.45130463A>G			44563870	Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	CCDS33480.1																																																																																				0.393	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			G	45130463	A	G	45130463	2	3	140	1	0	0	0	0	0	0	0	1	17851	272	10	4		4	ZNF334	20	45130463	Silent	SNP	A	TCGA-13-1496-01A-01W-0545-08		45130463	17895057	53	7615											
MYO18B	84700	broad.mit.edu	37	22	26243605	26243605	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chr22:26243605G>T	ENST00000407587.2	+	20	3933	c.3764G>T	c.(3763-3765)cGt>cTt	p.R1255L	MYO18B_ENST00000536101.1_Missense_Mutation_p.R1254L|MYO18B_ENST00000335473.7_Missense_Mutation_p.R1254L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1254	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1255L(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGGCTCTGCGTCTGCATAGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	22											21	25	24					22																	26243605		2131	4237	6368	24573605	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3764G>T	22.37:g.26243605G>T	ENSP00000386096:p.Arg1255Leu		24573605	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	12.91	2.078899	0.36662	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.77750	-1.12;-1.12;-1.12	4.42	4.42	0.53409	Myosin head, motor domain (2);	0.061993	0.64402	D	0.000005	D	0.86686	0.5992	M	0.92738	3.34	0.40944	D	0.98449	B;P;D;P	0.60160	0.077;0.72;0.987;0.673	B;B;P;B	0.51324	0.047;0.26;0.666;0.169	D	0.90882	0.4754	10	0.87932	D	0	.	14.5833	0.68308	0.0:0.0:1.0:0.0	.	767;1254;1255;1254	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	L	1254;1254;1255	ENSP00000441229:R1254L;ENSP00000334563:R1254L;ENSP00000386096:R1255L	ENSP00000334563:R1254L	R	+	2	0	MYO18B	24573605	1.000000	0.71417	0.970000	0.41538	0.471000	0.32888	5.357000	0.66058	2.303000	0.77524	0.561000	0.74099	CGT		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26243605	G	T	26243605	3	4	140	1	0	0	0	0	1	0	0	0	10066	1145	40	3	3835	3	MYO18B	22	26243605	Missense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08		26243605	25060961	54	7616											
MXRA5	25878	broad.mit.edu	37	X	3242751	3242751	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chrX:3242751C>A	ENST00000217939.6	-	5	1129	c.975G>T	c.(973-975)gaG>gaT	p.E325D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	325						extracellular vesicular exosome (GO:0070062)		p.E325D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTTCCCGTGCTCGTCGGTCA	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											122	88	100					X																	3242751		2203	4300	6503	3252751	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.975G>T	X.37:g.3242751C>A	ENSP00000217939:p.Glu325Asp		3252751	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788968	0.31685	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66815	-0.23	3.41	1.44	0.22558	.	0.000000	0.38492	U	0.001677	T	0.67795	0.2931	L	0.59436	1.845	0.22819	N	0.998697	D	0.61080	0.989	P	0.57152	0.814	T	0.57934	-0.7725	10	0.54805	T	0.06	.	4.4677	0.11698	0.0:0.6016:0.1865:0.212	.	325	Q9NR99	MXRA5_HUMAN	D	325	ENSP00000217939:E325D	ENSP00000217939:E325D	E	-	3	2	MXRA5	3252751	0.951000	0.32395	0.153000	0.22517	0.066000	0.16364	-0.031000	0.12287	0.282000	0.22254	0.425000	0.28330	GAG		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3242751	C	A	3242751	3	1	140	1	0	0	0	0	1	0	0	0	10003	796	28	3	7523	3	MXRA5	23	3242751	Missense_Mutation	SNP	C	TCGA-13-1496-01A-01W-0545-08		3242751	152027809	55	7617											
WDR45	11152	broad.mit.edu	37	X	48933303	48933303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chrX:48933303G>T	ENST00000376372.3	-	8	807	c.626C>A	c.(625-627)tCa>tAa	p.S209*	WDR45_ENST00000356463.3_Nonsense_Mutation_p.S210*|WDR45_ENST00000485908.1_Nonsense_Mutation_p.S174*|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000376368.2_Nonsense_Mutation_p.S210*|AF196779.12_ENST00000376358.3_Nonsense_Mutation_p.S107*|WDR45_ENST00000473974.1_Nonsense_Mutation_p.S209*|PRAF2_ENST00000376390.4_5'Flank|PRAF2_ENST00000376386.3_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000396681.4_Nonsense_Mutation_p.S209*|WDR45_ENST00000553851.1_Nonsense_Mutation_p.S107*|WDR45_ENST00000322995.8_Nonsense_Mutation_p.S220*	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	209					autophagy (GO:0006914)|cell death (GO:0008219)			p.S210*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTGGGAGGCTGAGGCCACTAC	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	X											55	45	48					X																	48933303		2203	4300	6503	48820247	SO:0001587	stop_gained	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.626C>A	X.37:g.48933303G>T	ENSP00000365551:p.Ser209*		48820247	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Nonsense_Mutation	SNP	ENST00000376372.3	37	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928291	0.92389	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475977;ENST00000471338;ENST00000376358	.	.	.	3.76	3.76	0.43208	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.0451	14.37	0.66833	0.0:0.0:1.0:0.0	.	.	.	.	X	107;209;220;210;174;209;210;209;37;142;107	.	.	S	-	2	0	AF196779.12;WDR45	48820247	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	9.154000	0.94694	1.814000	0.52955	0.409000	0.27619	TCA		0.557	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		T	48933303	G	T	48933303	4	4	140	1	0	0	0	0	0	1	0	0	17297	1294	45	3	472	3	WDR45	23	48933303	Nonsense_Mutation	SNP	G	TCGA-13-1496-01A-01W-0545-08	45690552	48933303	106337257	56	7618											
WNK3	65267	broad.mit.edu	37	X	54275418	54275418	+	Silent	SNP	G	G	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chrX:54275418G>T	ENST00000375159.2	-	16	3362	c.3363C>A	c.(3361-3363)ctC>ctA	p.L1121L	WNK3_ENST00000375169.3_Silent_p.L1121L|WNK3_ENST00000354646.2_Silent_p.L1121L			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1121					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L1121L(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCTCCTGATAGAGCAAGTTTC	0.438																																																1	Substitution - coding silent(1)	ovary(1)	X											118	114	115					X																	54275418		2203	4300	6503	54292143	SO:0001819	synonymous_variant	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3363C>A	X.37:g.54275418G>T			54292143	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	CCDS14357.1																																																																																				0.438	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		T	54275418	G	T	54275418	2	4	140	1	0	0	0	0	0	0	0	1	17379	929	33	3		3	WNK3	23	54275418	Silent	SNP	G	TCGA-13-1496-01A-01W-0545-08	5342115	54275418	100995142	57	7619											
ARMCX1	51309	broad.mit.edu	37	X	100808744	100808744	+	Silent	SNP	C	C	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chrX:100808744C>T	ENST00000372829.3	+	4	1202	c.831C>T	c.(829-831)aaC>aaT	p.N277N		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	277						integral component of membrane (GO:0016021)		p.N277N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGAGTGTGAACGCAGAAAATC	0.433													C|||	1	0.000264901	8e-04	0	3775	,	,		15038	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	X											111	88	96					X																	100808744		2203	4300	6503	100695400	SO:0001819	synonymous_variant	51309			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.831C>T	X.37:g.100808744C>T			100695400	Q53HK2|Q9H2Q0	Silent	SNP	ENST00000372829.3	37	CCDS14487.1																																																																																				0.433	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		T	100808744	C	T	100808744	2	4	140	1	0	0	0	0	0	0	0	1	959	535	19	1		1	ARMCX1	23	100808744	Silent	SNP	C	TCGA-13-1496-01A-01W-0545-08	46533326	100808744	54461816	58	7620											
PAK3	5063	broad.mit.edu	37	X	110388130	110388130	+	Intron	SNP	A	A	T			TCGA-13-1496-01A-01W-0545-08	TCGA-13-1496-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5ec1dc0f-e40e-4ad9-b93d-c284a355c33f	b46db02f-a987-48fd-9205-2447287925fe	g.chrX:110388130A>T	ENST00000372010.1	+	7	718				PAK3_ENST00000372007.5_Intron|PAK3_ENST00000417227.1_Missense_Mutation_p.S107C|PAK3_ENST00000446737.1_Intron|PAK3_ENST00000425146.1_Intron|PAK3_ENST00000360648.4_Missense_Mutation_p.S107C|PAK3_ENST00000519681.1_Missense_Mutation_p.S107C|PAK3_ENST00000262836.4_Intron|PAK3_ENST00000518291.1_Missense_Mutation_p.S107C			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3						activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGTCGCTTCAAGTCAATCAGA	0.388										TSP Lung(19;0.15)																																						0			X											62	44	50					X																	110388130		1568	3574	5142	110274786	SO:0001627	intron_variant	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.277-1619A>T	X.37:g.110388130A>T			110274786	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084312	0.36758	.	.	ENSG00000077264	ENST00000519681;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227	T;D;D;D;T	0.86694	-0.64;-2.16;-2.16;-2.16;-0.64	4.35	4.35	0.52113	.	1.758090	0.02541	N	0.094630	D	0.90535	0.7034	L	0.32530	0.975	0.80722	D	1	P;P	0.49696	0.927;0.927	D;D	0.69654	0.965;0.965	T	0.80558	-0.1329	10	0.56958	D	0.05	.	8.8909	0.35432	1.0:0.0:0.0:0.0	.	107;107	O75914-4;O75914-3	.;.	C	107	ENSP00000429113:S107C;ENSP00000428921:S107C;ENSP00000405642:S107C;ENSP00000353864:S107C;ENSP00000389172:S107C	ENSP00000353864:S107C	S	+	1	0	PAK3	110274786	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.612000	0.54142	1.920000	0.55613	0.412000	0.27726	AGT		0.388	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		T	110388130	A	T	110388130	1	4	140	0	1	0	0	0	0	0	0	0	11402	72	3	5		5	PAK3	23	110388130	Intron	SNP	A	TCGA-13-1496-01A-01W-0545-08	9579386	110388130	44882430	59	7621											
SPOCD1	90853	genome.wustl.edu	37	1	32256846	32256846	+	Silent	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:32256846C>T	ENST00000360482.2	-	16	3138	c.3009G>A	c.(3007-3009)gaG>gaA	p.E1003E	RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.E483E|SPOCD1_ENST00000533231.1_Silent_p.E990E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1003					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.E1003E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTGAGTGACCTCCAGACCTG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1											27	31	30					1																	32256846		2203	4300	6503	32029433	SO:0001819	synonymous_variant	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.3009G>A	1.37:g.32256846C>T			32029433	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	4.496	0.092028	0.08632	.	.	ENSG00000134668	ENST00000294514	.	.	.	4.88	-0.615	0.11587	.	.	.	.	.	T	0.31482	0.0798	.	.	.	0.44254	D	0.997108	.	.	.	.	.	.	T	0.08310	-1.0728	5	0.11794	T	0.64	-10.9109	3.6313	0.08133	0.1584:0.279:0.0:0.5626	.	.	.	.	K	288	.	ENSP00000294514:R288K	R	-	2	0	SPOCD1	32029433	0.269000	0.24143	0.085000	0.20634	0.424000	0.31475	0.217000	0.17603	-0.154000	0.11118	-0.290000	0.09829	AGG		0.582	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		T	32256846	C	T	32256846	2	4	141	1	0	0	0	0	0	0	0	1	15080	680	24	2		2	SPOCD1	1	32256846	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09		32256846	216993775	1	7622											
WDR78	79819	genome.wustl.edu	37	1	67359088	67359088	+	Missense_Mutation	SNP	G	G	T	rs201621125		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:67359088G>T	ENST00000371026.3	-	3	409	c.354C>A	c.(352-354)gaC>gaA	p.D118E	WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.D118E|WDR78_ENST00000371022.3_Missense_Mutation_p.D118E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	118					hematopoietic progenitor cell differentiation (GO:0002244)			p.D118E(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTCCATTTATGTCAAATACCT	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											115	111	113					1																	67359088		2203	4300	6503	67131676	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.354C>A	1.37:g.67359088G>T	ENSP00000360065:p.Asp118Glu		67131676	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954038	0.53293	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.81078	-1.45;-0.02;-0.56	5.17	2.84	0.33178	.	0.047632	0.85682	D	0.000000	T	0.74711	0.3752	M	0.69823	2.125	0.24548	N	0.994039	D;D;D	0.63880	0.971;0.993;0.993	P;P;P	0.53809	0.721;0.735;0.735	T	0.67825	-0.5570	10	0.72032	D	0.01	-28.5313	6.7204	0.23327	0.7935:0.0:0.2065:0.0	.	118;118;118	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	E	118	ENSP00000360065:D118E;ENSP00000360062:D118E;ENSP00000360061:D118E	ENSP00000360061:D118E	D	-	3	2	WDR78	67131676	0.826000	0.29277	0.057000	0.19452	0.001000	0.01503	1.470000	0.35354	0.924000	0.37069	-0.312000	0.09012	GAC		0.343	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		T	67359088	G	T	67359088	3	4	141	1	0	0	0	0	1	0	0	0	17328	1368	48	3	2309	3	WDR78	1	67359088	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	35102242	67359088	181891533	2	7623											
ANKRD35	148741	genome.wustl.edu	37	1	145562276	145562276	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:145562276A>T	ENST00000355594.4	+	10	2051	c.1964A>T	c.(1963-1965)gAg>gTg	p.E655V		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	655								p.E655V(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCAGCGGGAGTTTGTGCCC	0.612																																					Melanoma(9;127 754 22988 51047)											1	Substitution - Missense(1)	ovary(1)	1											42	45	44					1																	145562276		2203	4299	6502	144273633	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1964A>T	1.37:g.145562276A>T	ENSP00000347802:p.Glu655Val		144273633	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463552	0.43736	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.70282	-0.47	4.82	4.82	0.62117	.	0.133509	0.33792	N	0.004560	T	0.68888	0.3050	M	0.65975	2.015	0.80722	D	1	D	0.54601	0.967	P	0.55260	0.772	T	0.70226	-0.4930	10	0.37606	T	0.19	-18.1667	10.6914	0.45872	1.0:0.0:0.0:0.0	.	655	Q8N283	ANR35_HUMAN	V	564;655	ENSP00000347802:E655V	ENSP00000347802:E655V	E	+	2	0	ANKRD35	144273633	1.000000	0.71417	0.834000	0.33040	0.370000	0.29829	3.238000	0.51352	2.025000	0.59659	0.460000	0.39030	GAG		0.612	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		T	145562276	A	T	145562276	3	4	141	1	0	0	0	0	1	0	0	0	664	304	11	5	2002	5	ANKRD35	1	145562276	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09	78203188	145562276	103688345	3	7624											
PGLYRP4	57115	genome.wustl.edu	37	1	153317777	153317777	+	Missense_Mutation	SNP	G	G	A	rs201083169		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:153317777G>A	ENST00000359650.5	-	4	285	c.221C>T	c.(220-222)aCg>aTg	p.T74M	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.T70M|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	74					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.T74M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTCACTGGCGTGGTCAGCTG	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		20568	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1						G	MET/THR	0,4406		0,0,2203	151	118	129		221	-5.8	0	1		129	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PGLYRP4	NM_020393.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	74/374	153317777	2,13004	2203	4300	6503	151584401	SO:0001583	missense	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.221C>T	1.37:g.153317777G>A	ENSP00000352672:p.Thr74Met		151584401	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	6.895	0.534566	0.13188	0.0	2.33E-4	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.22743	1.94;1.94	3.2	-5.79	0.02354	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	.	.	.	.	T	0.02649	0.0080	L	0.31207	0.915	0.09310	N	1	P;P	0.40431	0.669;0.717	B;B	0.24269	0.031;0.052	T	0.24728	-1.0152	9	0.46703	T	0.11	-18.6165	5.0277	0.14393	0.3656:0.3929:0.2415:0.0	.	70;74	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	M	70;74	ENSP00000357728:T70M;ENSP00000352672:T74M	ENSP00000352672:T74M	T	-	2	0	PGLYRP4	151584401	0.000000	0.05858	0.000000	0.03702	0.554000	0.35429	-3.323000	0.00512	-1.272000	0.02427	0.313000	0.20887	ACG		0.582	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		A	153317777	G	A	153317777	3	1	141	1	0	0	0	0	1	0	0	0	11796	1145	40	1	924	1	PGLYRP4	1	153317777	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	7755501	153317777	95932844	4	7625											
IQGAP3	128239	genome.wustl.edu	37	1	156533015	156533015	+	Silent	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:156533015G>A	ENST00000361170.2	-	8	719	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	237					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.L237L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGATTCTCCAGAAGAGCACTG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1											81	81	81					1																	156533015		2203	4300	6503	154799639	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.709C>T	1.37:g.156533015G>A			154799639	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																				0.582	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		A	156533015	G	A	156533015	2	1	141	1	0	0	0	0	0	0	0	1	7816	933	33	2		2	IQGAP3	1	156533015	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09	3215238	156533015	92717606	5	7626											
SELE	6401	genome.wustl.edu	37	1	169697297	169697297	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:169697297C>A	ENST00000333360.7	-	8	1320	c.1181G>T	c.(1180-1182)tGt>tTt	p.C394F	SELE_ENST00000367781.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.C394F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.C394F|SELE_ENST00000367780.4_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367775.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	394	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.C394F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GGAGAACTCACAGCTGGACCC	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											116	117	117					1																	169697297		2203	4300	6503	167963921	SO:0001583	missense	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1181G>T	1.37:g.169697297C>A	ENSP00000331736:p.Cys394Phe		167963921	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375188	0.61735	.	.	ENSG00000007908	ENST00000367782;ENST00000333360;ENST00000367777	T;T;T	0.64618	-0.11;-0.11;-0.11	5.7	4.78	0.61160	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.45126	D	0.000400	D	0.83166	0.5195	H	0.97806	4.08	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.89396	0.3692	10	0.87932	D	0	-2.8713	13.7062	0.62641	0.0:0.9247:0.0:0.0753	.	394	P16581	LYAM2_HUMAN	F	394	ENSP00000356756:C394F;ENSP00000331736:C394F;ENSP00000356751:C394F	ENSP00000331736:C394F	C	-	2	0	SELE	167963921	0.999000	0.42202	0.304000	0.25085	0.393000	0.30537	4.986000	0.63851	1.382000	0.46385	0.655000	0.94253	TGT		0.537	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		A	169697297	C	A	169697297	3	1	141	1	0	0	0	0	1	0	0	0	14016	478	17	3	675	3	SELE	1	169697297	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	13164282	169697297	79553324	6	7627											
ATP2B4	493	genome.wustl.edu	37	1	203672847	203672847	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:203672847G>C	ENST00000357681.5	+	8	2128	c.1005G>C	c.(1003-1005)gaG>gaC	p.E335D	ATP2B4_ENST00000341360.2_Missense_Mutation_p.E335D|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E323D|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E335D|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E335D	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	335					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.E335D(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCGACAATGAGGAAAAGGACA	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											104	93	97					1																	203672847		2203	4300	6503	201939470	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1005G>C	1.37:g.203672847G>C	ENSP00000350310:p.Glu335Asp		201939470	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359224	0.24598	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.93133	-3.16;-3.16;-3.17;-3.15;-3.16	6.07	3.11	0.35812	ATPase, P-type, ATPase-associated domain (1);	0.242147	0.29653	N	0.011556	D	0.90587	0.7049	N	0.16790	0.44	0.50632	D	0.999884	D;B;D	0.69078	0.997;0.008;0.992	D;B;D	0.79108	0.992;0.015;0.987	D	0.85246	0.1041	10	0.12430	T	0.62	-38.0672	6.4188	0.21732	0.2143:0.1327:0.6529:0.0	.	335;335;335	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	D	335;335;323;335;335	ENSP00000350310:E335D;ENSP00000356187:E335D;ENSP00000356188:E323D;ENSP00000375816:E335D;ENSP00000340930:E335D	ENSP00000340930:E335D	E	+	3	2	ATP2B4	201939470	1.000000	0.71417	0.990000	0.47175	0.355000	0.29361	1.218000	0.32467	0.856000	0.35383	0.655000	0.94253	GAG		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		C	203672847	G	C	203672847	3	2	141	1	0	0	0	0	1	0	0	0	1142	991	35	3	1031	3	ATP2B4	1	203672847	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	33975550	203672847	45577774	7	7628											
KCNH1	3756	genome.wustl.edu	37	1	210977424	210977424	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:210977424A>G	ENST00000271751.4	-	8	1574	c.1547T>C	c.(1546-1548)cTc>cCc	p.L516P	KCNH1_ENST00000367007.4_Missense_Mutation_p.L489P			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	516					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.L516P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACACTGTTGAGCATCTCATG	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											161	147	152					1																	210977424		2203	4300	6503	209044047	SO:0001583	missense	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1547T>C	1.37:g.210977424A>G	ENSP00000271751:p.Leu516Pro		209044047	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414958	0.83449	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97256	-4.31;-4.31	5.6	5.6	0.85130	Cyclic nucleotide-binding-like (1);	0.060386	0.64402	D	0.000003	D	0.98226	0.9413	M	0.78801	2.425	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.954	D	0.99323	1.0907	10	0.87932	D	0	.	15.7772	0.78232	1.0:0.0:0.0:0.0	.	489;516	Q14CL3;O95259	.;KCNH1_HUMAN	P	516;489	ENSP00000271751:L516P;ENSP00000355974:L489P	ENSP00000271751:L516P	L	-	2	0	KCNH1	209044047	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.982000	0.93471	2.137000	0.66172	0.418000	0.28097	CTC		0.478	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		G	210977424	A	G	210977424	3	3	141	1	0	0	0	0	1	0	0	0	8031	304	11	4	1438	4	KCNH1	1	210977424	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09	7304577	210977424	38273197	8	7629											
GNPAT	8443	genome.wustl.edu	37	1	231408063	231408063	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:231408063G>T	ENST00000366647.4	+	11	1697	c.1528G>T	c.(1528-1530)Gtc>Ttc	p.V510F	GNPAT_ENST00000366646.3_Missense_Mutation_p.V449F	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	510					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.V510F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCCAGAGGATGTCTACAGTTG	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											304	290	294					1																	231408063		2203	4300	6503	229474686	SO:0001583	missense	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1528G>T	1.37:g.231408063G>T	ENSP00000355607:p.Val510Phe		229474686	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482918	0.63962	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.67698	-0.19;-0.19;-0.28	4.71	2.83	0.33086	.	0.205916	0.42964	D	0.000640	T	0.61085	0.2319	L	0.50333	1.59	0.53688	D	0.999979	P;P	0.48503	0.911;0.823	P;B	0.45829	0.494;0.359	T	0.64175	-0.6469	10	0.87932	D	0	.	7.9026	0.29744	0.3087:0.0:0.6913:0.0	.	449;510	B4DNM9;O15228	.;GNPAT_HUMAN	F	510;449;500	ENSP00000355607:V510F;ENSP00000355606:V449F;ENSP00000411640:V500F	ENSP00000355606:V449F	V	+	1	0	GNPAT	229474686	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	1.325000	0.33724	1.339000	0.45563	0.563000	0.77884	GTC		0.373	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			T	231408063	G	T	231408063	3	4	141	1	0	0	0	0	1	0	0	0	6541	1377	48	3	1570	3	GNPAT	1	231408063	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	20430639	231408063	17842558	9	7630											
ACTN2	88	genome.wustl.edu	37	1	236906308	236906308	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:236906308G>T	ENST00000366578.4	+	11	1386	c.1220G>T	c.(1219-1221)aGg>aTg	p.R407M	ACTN2_ENST00000542672.1_Missense_Mutation_p.R407M|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	407					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.R407M(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGAAGTTCAGGCAGAAGGCC	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											105	97	100					1																	236906308		2203	4300	6503	234972931	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1220G>T	1.37:g.236906308G>T	ENSP00000355537:p.Arg407Met		234972931	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197663	0.58126	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.51071	0.72;0.72	5.47	2.55	0.30701	.	0.618137	0.16636	N	0.205861	T	0.57695	0.2071	M	0.73217	2.22	0.80722	D	1	B;P;P;P	0.39424	0.179;0.673;0.596;0.522	P;P;P;B	0.49953	0.46;0.627;0.623;0.302	T	0.60611	-0.7229	10	0.87932	D	0	.	10.5258	0.44948	0.2111:0.0:0.7889:0.0	.	192;407;177;407	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	M	407;407;176	ENSP00000443495:R407M;ENSP00000355537:R407M	ENSP00000355537:R407M	R	+	2	0	ACTN2	234972931	0.732000	0.28121	0.829000	0.32907	0.416000	0.31233	1.216000	0.32443	0.778000	0.33520	0.655000	0.94253	AGG		0.532	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		T	236906308	G	T	236906308	3	4	141	1	0	0	0	0	1	0	0	0	205	1000	35	3	1262	3	ACTN2	1	236906308	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	5498245	236906308	12344313	10	7631											
OR2G6	391211	genome.wustl.edu	37	1	248685525	248685525	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr1:248685525C>T	ENST00000343414.4	+	1	610	c.578C>T	c.(577-579)aCt>aTt	p.T193I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T193I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGGATACGACTTTCAACGAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											123	125	124					1																	248685525		2203	4300	6503	246752148	SO:0001583	missense	391211				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.578C>T	1.37:g.248685525C>T	ENSP00000341291:p.Thr193Ile		246752148	B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	4.487	0.090235	0.08632	.	.	ENSG00000188558	ENST00000343414	T	0.00091	8.74	3.35	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.307943	0.23139	U	0.051494	T	0.00178	0.0005	L	0.60904	1.88	0.09310	N	1	B	0.27625	0.183	B	0.35727	0.209	T	0.17868	-1.0355	10	0.52906	T	0.07	.	6.1231	0.20164	0.2165:0.5729:0.2105:0.0	.	193	Q5TZ20	OR2G6_HUMAN	I	193	ENSP00000341291:T193I	ENSP00000341291:T193I	T	+	2	0	OR2G6	246752148	0.000000	0.05858	0.011000	0.14972	0.185000	0.23345	-2.044000	0.01411	0.723000	0.32274	0.400000	0.26472	ACT		0.488	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		T	248685525	C	T	248685525	3	4	141	1	0	0	0	0	1	0	0	0	11000	565	20	2	580	2	OR2G6	1	248685525	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	11779217	248685525	565096	11	7632											
ODC1	4953	genome.wustl.edu	37	2	10585130	10585130	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:10585130T>C	ENST00000234111.4	-	3	539	c.29A>G	c.(28-30)gAc>gGc	p.D10G	ODC1_ENST00000446285.1_5'UTR|ODC1_ENST00000405333.1_Missense_Mutation_p.D10G|SNORA80B_ENST00000383906.1_RNA	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	10					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)	p.D10G(1)		NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	GAAGTGGCAGTCAAACTCTTC	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											114	109	111					2																	10585130		2203	4300	6503	10502581	SO:0001583	missense	89874				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.29A>G	2.37:g.10585130T>C	ENSP00000234111:p.Asp10Gly		10502581	Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121133	0.56613	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000443218	T;T	0.47869	0.83;0.83	5.47	5.47	0.80525	.	0.141330	0.64402	D	0.000006	T	0.43166	0.1235	L	0.54323	1.7	0.47276	D	0.999371	B	0.02656	0.0	B	0.06405	0.002	T	0.37776	-0.9691	10	0.54805	T	0.06	.	10.7178	0.46023	0.0:0.0739:0.0:0.9261	.	10	P11926	DCOR_HUMAN	G	10	ENSP00000234111:D10G;ENSP00000385333:D10G	ENSP00000234111:D10G	D	-	2	0	ODC1	10502581	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.750000	0.68712	2.080000	0.62538	0.533000	0.62120	GAC		0.393	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			C	10585130	T	C	10585130	3	2	141	1	0	0	0	0	1	0	0	0	10825	1667	58	4	1396	4	ODC1	2	10585130	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09		10585130	232614243	12	7633											
SDC1	6382	genome.wustl.edu	37	2	20405179	20405179	+	Missense_Mutation	SNP	C	C	G	rs146940431	byFrequency	TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:20405179C>G	ENST00000254351.4	-	2	317	c.73G>C	c.(73-75)Gtg>Ctg	p.V25L	SDC1_ENST00000403076.1_Missense_Mutation_p.V25L|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000381150.1_Missense_Mutation_p.V25L	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	25					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.V25L(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTAGTAGCCACAATTTGCTGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											66	68	67					2																	20405179		2203	4300	6503	20268660	SO:0001583	missense	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.73G>C	2.37:g.20405179C>G	ENSP00000254351:p.Val25Leu		20268660	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778133	0.49786	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.34859	2.27;2.27;1.45;1.34	4.52	1.71	0.24356	.	0.418350	0.19945	N	0.102560	T	0.31670	0.0804	M	0.70595	2.14	0.09310	N	1	B;B	0.30870	0.298;0.114	B;B	0.27887	0.084;0.084	T	0.32107	-0.9919	10	0.87932	D	0	-12.1122	4.5787	0.12248	0.1752:0.635:0.0:0.1898	.	25;25	E9PHH3;P18827	.;SDC1_HUMAN	L	25;25;25;33	ENSP00000254351:V25L;ENSP00000370542:V25L;ENSP00000384613:V25L;ENSP00000400773:V33L	ENSP00000254351:V25L	V	-	1	0	SDC1	20268660	0.001000	0.12720	0.005000	0.12908	0.627000	0.37826	0.043000	0.13971	0.232000	0.21100	-0.379000	0.06801	GTG		0.547	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		G	20405179	C	G	20405179	3	3	141	1	0	0	0	0	1	0	0	0	13954	478	17	3	875	3	SDC1	2	20405179	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	9820049	20405179	222794194	13	7634											
APOB	338	genome.wustl.edu	37	2	21260914	21260914	+	Silent	SNP	A	A	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:21260914A>G	ENST00000233242.1	-	5	580	c.453T>C	c.(451-453)acT>acC	p.T151T	APOB_ENST00000399256.4_Silent_p.T151T	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	151	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T151T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGATGTAAGTAGGTTCAT	0.493																																																1	Substitution - coding silent(1)	ovary(1)	2											118	114	115					2																	21260914		2203	4300	6503	21114419	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.453T>C	2.37:g.21260914A>G			21114419	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.493	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21260914	A	G	21260914	2	3	141	1	0	0	0	0	0	0	0	1	785	59	3	4		4	APOB	2	21260914	Silent	SNP	A	TCGA-13-1497-01A-01W-0549-09	855735	21260914	221938459	14	7635											
DNMT3A	1788	genome.wustl.edu	37	2	25463284	25463284	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:25463284G>A	ENST00000264709.3	-	19	2546	c.2209C>T	c.(2209-2211)Ctc>Ttc	p.L737F	DNMT3A_ENST00000402667.1_Missense_Mutation_p.L514F|DNMT3A_ENST00000321117.5_Missense_Mutation_p.L737F|DNMT3A_ENST00000380746.4_Missense_Mutation_p.L548F|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	737	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.L737F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATGCAGGAGGCGGTAGAAC	0.587			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	ovary(1)	2											74	71	72					2																	25463284		2203	4300	6503	25316788	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2209C>T	2.37:g.25463284G>A	ENSP00000264709:p.Leu737Phe		25316788	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525316	0.85600	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89797	0.3972	10	0.72032	D	0.01	-10.3231	11.2072	0.48775	0.0849:0.0:0.9151:0.0	.	737;548	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	F	548;737;737;514	ENSP00000370122:L548F;ENSP00000324375:L737F;ENSP00000264709:L737F;ENSP00000384237:L514F	ENSP00000264709:L737F	L	-	1	0	DNMT3A	25316788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.794000	0.69067	2.540000	0.85666	0.561000	0.74099	CTC		0.587	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		A	25463284	G	A	25463284	3	1	141	1	0	0	0	0	1	0	0	0	4676	1000	35	2	549	2	DNMT3A	2	25463284	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	4202370	25463284	217736089	15	7636											
OTOF	9381	genome.wustl.edu	37	2	26689715	26689715	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:26689715G>A	ENST00000272371.2	-	36	4493	c.4367C>T	c.(4366-4368)tCc>tTc	p.S1456F	OTOF_ENST00000338581.6_Missense_Mutation_p.S689F|OTOF_ENST00000402415.3_Missense_Mutation_p.S766F|OTOF_ENST00000339598.3_Missense_Mutation_p.S689F|OTOF_ENST00000403946.3_Missense_Mutation_p.S1456F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1456					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.S1456F(1)|p.S689F(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACGCAGAGGGAGCCCTGGGC	0.597																																					GBM(102;732 1451 20652 24062 31372)											2	Substitution - Missense(2)	ovary(2)	2											67	63	65					2																	26689715		2203	4300	6503	26543219	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4367C>T	2.37:g.26689715G>A	ENSP00000272371:p.Ser1456Phe		26543219	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761629	0.89932	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;D;D	0.81821	-1.27;-1.27;-1.26;-1.54;-1.54	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.90631	0.7062	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.998;0.998	D;D;D;D	0.76071	0.931;0.976;0.953;0.987	D	0.89270	0.3604	10	0.23302	T	0.38	-34.8326	18.0702	0.89404	0.0:0.0:1.0:0.0	.	1456;689;766;689	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	F	689;689;766;1456;1456	ENSP00000345137:S689F;ENSP00000344521:S689F;ENSP00000383906:S766F;ENSP00000272371:S1456F;ENSP00000385255:S1456F	ENSP00000272371:S1456F	S	-	2	0	OTOF	26543219	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.785000	0.99042	2.450000	0.82876	0.561000	0.74099	TCC		0.597	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26689715	G	A	26689715	3	1	141	1	0	0	0	0	1	0	0	0	11303	1174	41	2	1855	2	OTOF	2	26689715	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	1226431	26689715	216509658	16	7637											
FOSL2	2355	genome.wustl.edu	37	2	28635199	28635199	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:28635199G>C	ENST00000264716.4	+	4	1728	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	FOSL2_ENST00000545753.1_Missense_Mutation_p.E250Q|FOSL2_ENST00000379619.1_Missense_Mutation_p.E281Q	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	289					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E289Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGCGTCCTGGAGCAGGAGTC	0.617																																																1	Substitution - Missense(1)	ovary(1)	2											80	63	69					2																	28635199		2203	4300	6503	28488703	SO:0001583	missense	2355				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.865G>C	2.37:g.28635199G>C	ENSP00000264716:p.Glu289Gln		28488703	B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451114	0.63290	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000545753	T;T;T	0.78707	-1.2;-0.2;-1.19	5.71	5.71	0.89125	.	.	.	.	.	T	0.72170	0.3427	L	0.39898	1.24	0.51233	D	0.999919	B	0.29909	0.261	B	0.24155	0.051	T	0.69165	-0.5217	9	0.45353	T	0.12	-0.7802	19.8481	0.96728	0.0:0.0:1.0:0.0	.	289	P15408	FOSL2_HUMAN	Q	281;289;250	ENSP00000368939:E281Q;ENSP00000264716:E289Q;ENSP00000439303:E250Q	ENSP00000264716:E289Q	E	+	1	0	FOSL2	28488703	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.489000	0.66875	2.693000	0.91896	0.655000	0.94253	GAG		0.617	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		C	28635199	G	C	28635199	3	2	141	1	0	0	0	0	1	0	0	0	5988	1175	41	3	879	3	FOSL2	2	28635199	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	1945484	28635199	214564174	17	7638											
HEATR5B	54497	genome.wustl.edu	37	2	37215935	37215935	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:37215935G>C	ENST00000233099.5	-	35	5860	c.5765C>G	c.(5764-5766)cCt>cGt	p.P1922R	HEATR5B_ENST00000354531.2_Missense_Mutation_p.P1833R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1922						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.P1922R(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGAATATAAGGAGTTGAAAG	0.383																																																1	Substitution - Missense(1)	ovary(1)	2											104	107	106					2																	37215935		2203	4300	6503	37069439	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5765C>G	2.37:g.37215935G>C	ENSP00000233099:p.Pro1922Arg		37069439	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576924	0.86645	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	T;T	0.70045	-0.45;-0.45	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.79011	2.435	0.42659	D	0.993473	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.971	T	0.81897	-0.0722	10	0.41790	T	0.15	-14.521	19.4943	0.95065	0.0:0.0:1.0:0.0	.	1922;1922	Q9P2D3;B9EK47	HTR5B_HUMAN;.	R	23;1922;1833	ENSP00000233099:P1922R;ENSP00000346531:P1833R	ENSP00000233099:P1922R	P	-	2	0	HEATR5B	37069439	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.495000	0.97964	2.677000	0.91161	0.491000	0.48974	CCT		0.383	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		C	37215935	G	C	37215935	3	2	141	1	0	0	0	0	1	0	0	0	7032	1000	35	3	458	3	HEATR5B	2	37215935	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	8580736	37215935	205983438	18	7639											
DCTN1	1639	genome.wustl.edu	37	2	74595160	74595160	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:74595160G>C	ENST00000361874.3	-	17	2270	c.1953C>G	c.(1951-1953)agC>agG	p.S651R	DCTN1_ENST00000407639.2_Missense_Mutation_p.S517R|DCTN1_ENST00000409868.1_Missense_Mutation_p.S634R|DCTN1_ENST00000409438.1_Missense_Mutation_p.S517R|DCTN1_ENST00000409567.3_Missense_Mutation_p.S631R|DCTN1_ENST00000394003.3_Missense_Mutation_p.S644R|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409240.1_Missense_Mutation_p.S614R	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	651					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.S651R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CAGCAGCAAAGCTGAGTTGCT	0.602																																																1	Substitution - Missense(1)	ovary(1)	2											47	44	45					2																	74595160		2203	4300	6503	74448668	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1953C>G	2.37:g.74595160G>C	ENSP00000354791:p.Ser651Arg		74448668	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994614	0.54041	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.25	2.44	0.29823	.	0.000000	0.51477	D	0.000092	D	0.86535	0.5956	L	0.49350	1.555	0.58432	D	0.999998	D;P;D;P;D;D	0.89917	1.0;0.767;0.997;0.621;0.996;0.997	D;P;D;B;D;D	0.79784	0.993;0.603;0.992;0.348;0.931;0.986	D	0.85565	0.1230	10	0.59425	D	0.04	-6.3144	10.2639	0.43443	0.2268:0.0:0.7732:0.0	.	631;614;651;644;517;517	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	R	651;644;634;517;517;614;634;631	ENSP00000354791:S651R;ENSP00000377571:S644R;ENSP00000384844:S517R;ENSP00000387270:S517R;ENSP00000386406:S614R;ENSP00000387327:S634R;ENSP00000386843:S631R	ENSP00000354791:S651R	S	-	3	2	DCTN1	74448668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.847000	0.55895	0.779000	0.33543	0.655000	0.94253	AGC		0.602	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		C	74595160	G	C	74595160	3	2	141	1	0	0	0	0	1	0	0	0	4306	962	34	3	1947	3	DCTN1	2	74595160	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	37379225	74595160	168604213	19	7640											
AFF3	3899	genome.wustl.edu	37	2	100175348	100175348	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:100175348C>G	ENST00000409236.2	-	20	3386	c.3274G>C	c.(3274-3276)Gac>Cac	p.D1092H	AFF3_ENST00000356421.2_Missense_Mutation_p.D1117H|AFF3_ENST00000317233.4_Missense_Mutation_p.D1092H|AFF3_ENST00000409579.1_Missense_Mutation_p.D1117H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1092					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.D1117H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGAAATAGTCGATTAGTGCT	0.443											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											125	118	121					2																	100175348		2203	4300	6503	99541780	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3274G>C	2.37:g.100175348C>G	ENSP00000387207:p.Asp1092His	1349	99541780	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893294	0.72524	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.72	5.72	0.89469	.	0.121669	0.53938	D	0.000042	T	0.80276	0.4593	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.928	T	0.81512	-0.0899	10	0.87932	D	0	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	1092;1117	P51826;P51826-2	AFF3_HUMAN;.	H	1092;1117;1117;1092;134	ENSP00000317421:D1092H;ENSP00000348793:D1117H;ENSP00000386834:D1117H;ENSP00000387207:D1092H;ENSP00000416685:D134H	ENSP00000317421:D1092H	D	-	1	0	AFF3	99541780	1.000000	0.71417	0.998000	0.56505	0.687000	0.40016	6.044000	0.71012	2.691000	0.91804	0.655000	0.94253	GAC		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		G	100175348	C	G	100175348	3	3	141	1	0	0	0	0	1	0	0	0	358	884	31	3	422	3	AFF3	2	100175348	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	25580188	100175348	143024025	20	7641											
FAP	2191	genome.wustl.edu	37	2	163059656	163059656	+	Splice_Site	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:163059656C>G	ENST00000188790.4	-	13	1255		c.e13-1		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AAACAAAGAACTGAAAAAAAT	0.308																																																1	Unknown(1)	ovary(1)	2											50	50	50					2																	163059656		2202	4299	6501	162767902	SO:0001630	splice_region_variant	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1048-1G>C	2.37:g.163059656C>G			162767902		Splice_Site	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239160	0.58995	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162767902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.557000	0.67313	2.804000	0.96469	0.650000	0.86243	.		0.308	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Intron	G	163059656	C	G	163059656	5	3	141	1	0	0	0	0	0	0	1	0	5673	579	20	3	1291	3	FAP	2	163059656	Splice_Site	SNP	C	TCGA-13-1497-01A-01W-0549-09	62884308	163059656	80139717	21	7642											
TTN	7273	genome.wustl.edu	37	2	179600767	179600767	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:179600767C>A	ENST00000591111.1	-	48	13679	c.13455G>T	c.(13453-13455)aaG>aaT	p.K4485N	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K4802N|TTN_ENST00000342992.6_Missense_Mutation_p.K3558N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12240	Ig-like 25.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K3558N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTAAGGGACTTAGGTCTGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											64	61	62					2																	179600767		1907	4128	6035	179309012	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13455G>T	2.37:g.179600767C>A	ENSP00000465570:p.Lys4485Asn		179309012	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	6.805	0.517562	0.13005	.	.	ENSG00000155657	ENST00000342992	T	0.69685	-0.42	5.93	3.21	0.36854	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55721	0.1938	L	0.41961	1.31	0.80722	D	1	B	0.33777	0.425	B	0.31812	0.136	T	0.54050	-0.8351	9	0.87932	D	0	.	8.891	0.35434	0.0:0.6535:0.0:0.3465	.	4485	Q8WZ42	TITIN_HUMAN	N	3558	ENSP00000343764:K3558N	ENSP00000343764:K3558N	K	-	3	2	TTN	179309012	0.930000	0.31532	0.913000	0.36048	0.618000	0.37518	0.047000	0.14056	0.427000	0.26145	-0.140000	0.14226	AAG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179600767	C	A	179600767	3	1	141	1	0	0	0	0	1	0	0	0	16735	564	20	3	90375	3	TTN	2	179600767	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	16541111	179600767	63598606	22	7643											
CCDC108	255101	genome.wustl.edu	37	2	219900185	219900185	+	Intron	SNP	A	A	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:219900185A>T	ENST00000341552.5	-	5	626				CCDC108_ENST00000324264.6_Missense_Mutation_p.S122T|CCDC108_ENST00000295729.2_Missense_Mutation_p.S122T|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000409865.3_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGTCCTTGATCCCTTATAC	0.438																																																0			2											127	122	124					2																	219900185		2203	4300	6503	219608429	SO:0001627	intron_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.542+16T>A	2.37:g.219900185A>T			219608429	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	A	12.19	1.863430	0.32884	.	.	ENSG00000181378	ENST00000295729;ENST00000324264	T;T	0.28895	1.59;1.59	3.37	-5.01	0.02991	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	P	0.35612	0.512	B	0.29785	0.107	T	0.30937	-0.9961	9	0.09084	T	0.74	.	5.3632	0.16099	0.2164:0.3085:0.4751:0.0	.	122	E9PCR1	.	T	122	ENSP00000295729:S122T;ENSP00000313807:S122T	ENSP00000295729:S122T	S	-	1	0	CCDC108	219608429	0.006000	0.16342	0.000000	0.03702	0.093000	0.18481	0.236000	0.17967	-0.851000	0.04147	-0.464000	0.05259	TCA		0.438	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		T	219900185	A	T	219900185	1	4	141	0	1	0	0	0	0	0	0	0	2743	333	12	5		5	CCDC108	2	219900185	Intron	SNP	A	TCGA-13-1497-01A-01W-0549-09	40299418	219900185	23299188	23	7644											
SLC16A14	151473	genome.wustl.edu	37	2	230911221	230911221	+	Silent	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:230911221C>A	ENST00000295190.4	-	4	1079	c.621G>T	c.(619-621)gcG>gcT	p.A207A		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.A207A(2)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCCTCATGAGCGCCCCACAAA	0.542																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	2											65	69	68					2																	230911221		2203	4300	6503	230619465	SO:0001819	synonymous_variant	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.621G>T	2.37:g.230911221C>A			230619465	A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	CCDS2473.1																																																																																				0.542	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		A	230911221	C	A	230911221	2	1	141	1	0	0	0	0	0	0	0	1	14410	755	27	3		3	SLC16A14	2	230911221	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	11011036	230911221	12288152	24	7645											
SH3BP4	23677	genome.wustl.edu	37	2	235950811	235950811	+	Silent	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr2:235950811G>A	ENST00000409212.1	+	4	1905	c.1398G>A	c.(1396-1398)gtG>gtA	p.V466V	SH3BP4_ENST00000392011.2_Silent_p.V466V|SH3BP4_ENST00000344528.4_Silent_p.V466V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	466					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.V466V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CTTCCACCGTGTGGGACTTCA	0.552																																																1	Substitution - coding silent(1)	ovary(1)	2											58	60	59					2																	235950811		2203	4300	6503	235615550	SO:0001819	synonymous_variant	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1398G>A	2.37:g.235950811G>A			235615550	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																				0.552	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			A	235950811	G	A	235950811	2	1	141	1	0	0	0	0	0	0	0	1	14249	1364	48	2		2	SH3BP4	2	235950811	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09	5039590	235950811	7248562	25	7646											
ITPR1	3708	genome.wustl.edu	37	3	4808381	4808381	+	Silent	SNP	A	A	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr3:4808381A>G	ENST00000443694.2	+	42	5667	c.5667A>G	c.(5665-5667)ccA>ccG	p.P1889P	ITPR1_ENST00000302640.8_Silent_p.P1889P|ITPR1_ENST00000357086.4_Silent_p.P1856P|ITPR1_ENST00000354582.6_Silent_p.P1889P|ITPR1_ENST00000423119.2_Silent_p.P1856P|ITPR1_ENST00000456211.2_Silent_p.P1841P|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1904					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.P1841P(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGGATGCCCCATCACGGAAAA	0.438																																																1	Substitution - coding silent(1)	ovary(1)	3											70	67	68					3																	4808381		1928	4127	6055	4783381	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5667A>G	3.37:g.4808381A>G			4783381	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.438	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		G	4808381	A	G	4808381	2	3	141	1	0	0	0	0	0	0	0	1	7920	204	8	4		4	ITPR1	3	4808381	Silent	SNP	A	TCGA-13-1497-01A-01W-0549-09		4808381	193214049	26	7647											
USP19	10869	genome.wustl.edu	37	3	49154036	49154036	+	Silent	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr3:49154036G>A	ENST00000398888.2	-	7	1146	c.828C>T	c.(826-828)ccC>ccT	p.P276P	USP19_ENST00000398898.2_Silent_p.P314P|USP19_ENST00000398896.1_Silent_p.P82P|USP19_ENST00000417901.1_Silent_p.P377P|USP19_ENST00000398892.3_Silent_p.P314P|USP19_ENST00000434032.2_Silent_p.P377P|USP19_ENST00000453664.1_Silent_p.P367P|USP19_ENST00000488993.1_5'Flank	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	276					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.P362P(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCATCGACTCGGGCTCTATAT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	3											79	79	79					3																	49154036		2060	4199	6259	49129040	SO:0001819	synonymous_variant	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.828C>T	3.37:g.49154036G>A			49129040	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	CCDS43090.1																																																																																				0.532	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		A	49154036	G	A	49154036	2	1	141	1	0	0	0	0	0	0	0	1	17050	1103	39	1		1	USP19	3	49154036	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09	44345655	49154036	148868394	27	7648											
OR5H15	403274	genome.wustl.edu	37	3	97888306	97888306	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr3:97888306C>A	ENST00000356526.2	+	1	763	c.763C>A	c.(763-765)Ctt>Att	p.L255I		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L255I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CTATGGCCCCCTTCTCTTAAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	3											95	98	97					3																	97888306		2203	4300	6503	99370996	SO:0001583	missense	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.763C>A	3.37:g.97888306C>A	ENSP00000373195:p.Leu255Ile		99370996		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	8.869	0.948702	0.18356	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00069	8.77	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000696	T	0.00210	0.0006	L	0.31926	0.97	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56202	-0.8018	10	0.11485	T	0.65	.	7.3073	0.26455	0.0:0.7234:0.2766:0.0	.	255	A6NDH6	O5H15_HUMAN	I	255	ENSP00000373195:L255I	ENSP00000373195:L255I	L	+	1	0	OR5H15	99370996	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	-0.674000	0.05233	1.386000	0.46466	0.184000	0.17185	CTT		0.433	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			A	97888306	C	A	97888306	3	1	141	1	0	0	0	0	1	0	0	0	11161	681	24	3	765	3	OR5H15	3	97888306	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	48734270	97888306	100134124	28	7649											
ABI3BP	25890	genome.wustl.edu	37	3	100566471	100566471	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr3:100566471G>T	ENST00000284322.5	-	17	1606	c.1497C>A	c.(1495-1497)agC>agA	p.S499R	ABI3BP_ENST00000383691.4_5'Flank|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S548R|ABI3BP_ENST00000471714.1_Missense_Mutation_p.S548R	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	499	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.S500R(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TAGGTTCAGGGCTTTTAGAAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	3											307	292	297					3																	100566471		1839	4082	5921	102049161	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1497C>A	3.37:g.100566471G>T	ENSP00000284322:p.Ser499Arg		102049161	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.23|11.23	1.578409|1.578409	0.28180|0.28180	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000528490;ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|T;T;T	.|0.56444	.|0.46;0.46;0.46	4.64|4.64	-2.6|-2.6	0.06190|0.06190	.|.	.|2.627910	.|0.01152	.|N	.|0.006449	T|T	0.17152|0.17152	0.0412|0.0412	N|N	0.00321|0.00321	-1.65|-1.65	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.12041|0.12041	-1.0563|-1.0563	5|10	.|0.45353	.|T	.|0.12	-0.1002|-0.1002	1.5323|1.5323	0.02538|0.02538	0.3897:0.1318:0.3441:0.1344|0.3897:0.1318:0.3441:0.1344	.|.	.|548;499	.|Q5JPC9;Q7Z7G0	.|.;TARSH_HUMAN	D|R	16;177|548;499;548	.|ENSP00000420524:S548R;ENSP00000284322:S499R;ENSP00000433993:S548R	.|ENSP00000284322:S499R	A|S	-|-	2|3	0|2	ABI3BP|ABI3BP	102049161|102049161	0.000000|0.000000	0.05858|0.05858	0.115000|0.115000	0.21578|0.21578	0.998000|0.998000	0.95712|0.95712	-1.238000|-1.238000	0.02919|0.02919	-0.687000|-0.687000	0.05162|0.05162	0.591000|0.591000	0.81541|0.81541	GCC|AGC		0.368	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			T	100566471	G	T	100566471	3	4	141	1	0	0	0	0	1	0	0	0	91	1194	42	3	1806	3	ABI3BP	3	100566471	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	2678165	100566471	97455959	29	7650											
DPPA2	151871	genome.wustl.edu	37	3	109026937	109026937	+	Silent	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr3:109026937C>T	ENST00000478945.1	-	6	846	c.600G>A	c.(598-600)aaG>aaA	p.K200K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	200					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.K200K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTCAAAGCCTTAGGCTGAA	0.463																																																1	Substitution - coding silent(1)	ovary(1)	3											112	102	105					3																	109026937		2203	4300	6503	110509627	SO:0001819	synonymous_variant	151871			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.600G>A	3.37:g.109026937C>T			110509627	Q8WVF0	Silent	SNP	ENST00000478945.1	37	CCDS2956.1																																																																																				0.463	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		T	109026937	C	T	109026937	2	4	141	1	0	0	0	0	0	0	0	1	4734	680	24	2		2	DPPA2	3	109026937	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	8460466	109026937	88995493	30	7651											
CASR	846	genome.wustl.edu	37	3	121975939	121975939	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr3:121975939G>A	ENST00000490131.1	+	3	569	c.197G>A	c.(196-198)cGt>cAt	p.R66H	CASR_ENST00000498619.1_Missense_Mutation_p.R66H|CASR_ENST00000296154.5_Missense_Mutation_p.R66H	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	66			R -> C (in HHC1). {ECO:0000269|PubMed:7726161}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R66H(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TATAATTTCCGTGGGTTTCGC	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											79	82	81					3																	121975939		2203	4300	6503	123458629	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.197G>A	3.37:g.121975939G>A	ENSP00000418685:p.Arg66His		123458629	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066105	0.55539	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.86497	-2.13;-2.13;-2.13	5.84	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.965	D	0.92952	0.6381	10	0.87932	D	0	.	14.2176	0.65805	0.0714:0.0:0.9286:0.0	.	66;66	E7ENE0;P41180	.;CASR_HUMAN	H	66	ENSP00000418685:R66H;ENSP00000420194:R66H;ENSP00000296154:R66H	ENSP00000296154:R66H	R	+	2	0	CASR	123458629	1.000000	0.71417	0.930000	0.37139	0.005000	0.04900	9.869000	0.99810	1.473000	0.48159	-0.150000	0.13652	CGT		0.443	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		A	121975939	G	A	121975939	3	1	141	1	0	0	0	0	1	0	0	0	2682	1145	40	1	203	1	CASR	3	121975939	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	12949002	121975939	76046491	31	7652											
GYG1	2992	genome.wustl.edu	37	3	148714548	148714548	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr3:148714548A>T	ENST00000345003.4	+	4	638	c.338A>T	c.(337-339)gAt>gTt	p.D113V	GYG1_ENST00000484197.1_Missense_Mutation_p.D113V|GYG1_ENST00000483267.1_Missense_Mutation_p.D113V|GYG1_ENST00000296048.6_Missense_Mutation_p.D113V	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	113					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)	p.D113V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AATATTGATGATCTTTTTGAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	3											86	85	86					3																	148714548		2203	4300	6503	150197238	SO:0001583	missense	2992			AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4699	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	603942	"glycogenin"	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.338A>T	3.37:g.148714548A>T	ENSP00000340736:p.Asp113Val		150197238	D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	CCDS3139.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.949287	0.92660	.	.	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000483267;ENST00000484197;ENST00000492285;ENST00000461191	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	6.07	6.07	0.98685	.	0.044047	0.85682	D	0.000000	T	0.64091	0.2567	M	0.73372	2.23	0.80722	D	1	P;P;P;P	0.48998	0.918;0.888;0.774;0.808	P;D;P;P	0.63597	0.544;0.916;0.755;0.604	T	0.66337	-0.5949	10	0.87932	D	0	-30.6372	16.686	0.85306	1.0:0.0:0.0:0.0	.	113;113;113;113	G5E9W8;D3DNH0;P46976-2;P46976	.;.;.;GLYG_HUMAN	V	113;113;113;113;67;113	ENSP00000340736:D113V;ENSP00000296048:D113V;ENSP00000419499:D113V;ENSP00000420683:D113V;ENSP00000418297:D67V;ENSP00000420247:D113V	ENSP00000296048:D113V	D	+	2	0	GYG1	150197238	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.923000	0.92808	2.340000	0.79590	0.529000	0.55759	GAT		0.433	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		T	148714548	A	T	148714548	3	4	141	1	0	0	0	0	1	0	0	0	6905	333	12	5	352	5	GYG1	3	148714548	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09	26738609	148714548	49307882	32	7653											
GPR149	344758	genome.wustl.edu	37	3	154146463	154146463	+	Silent	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr3:154146463G>T	ENST00000389740.2	-	1	1041	c.942C>A	c.(940-942)atC>atA	p.I314I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	314					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I314I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAAGCGCTAGGATCAAAGCGA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	3											103	102	102					3																	154146463		1975	4149	6124	155629157	SO:0001819	synonymous_variant	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.942C>A	3.37:g.154146463G>T			155629157		Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																				0.562	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		T	154146463	G	T	154146463	2	4	141	1	0	0	0	0	0	0	0	1	6654	1164	41	3		3	GPR149	3	154146463	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09	5431915	154146463	43875967	33	7654											
ZDHHC19	131540	genome.wustl.edu	37	3	195938140	195938140	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr3:195938140G>A	ENST00000296326.3	-	1	126	c.47C>T	c.(46-48)cCc>cTc	p.P16L	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	16						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P16L(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CAGAGGCAGGGGATGGGGCTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	3											113	147	136					3																	195938140		2106	4219	6325	197422537	SO:0001583	missense	131540			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.47C>T	3.37:g.195938140G>A	ENSP00000296326:p.Pro16Leu		197422537	A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743897	0.30865	.	.	ENSG00000163958	ENST00000296326	T	0.29655	1.56	4.96	-2.01	0.07410	.	1.382910	0.04795	N	0.432358	T	0.20333	0.0489	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28459	-1.0043	10	0.48119	T	0.1	-3.1891	3.7871	0.08704	0.0803:0.3709:0.2817:0.2671	.	16	Q8WVZ1	ZDH19_HUMAN	L	16	ENSP00000296326:P16L	ENSP00000296326:P16L	P	-	2	0	ZDHHC19	197422537	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.192000	0.17096	-0.245000	0.09625	0.555000	0.69702	CCC		0.622	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		A	195938140	G	A	195938140	3	1	141	1	0	0	0	0	1	0	0	0	17609	1232	43	2	910	2	ZDHHC19	3	195938140	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	41791677	195938140	2084290	34	7655											
HTRA3	94031	genome.wustl.edu	37	4	8305998	8305998	+	Silent	SNP	T	T	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr4:8305998T>G	ENST00000307358.2	+	8	1392	c.1188T>G	c.(1186-1188)ccT>ccG	p.P396P		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	396	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P396P(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CGAATTCACCTTCTCAGAGGT	0.587																																																1	Substitution - coding silent(1)	ovary(1)	4											62	62	62					4																	8305998		2203	4300	6503	8356898	SO:0001819	synonymous_variant	94031			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1188T>G	4.37:g.8305998T>G			8356898	Q7Z7A2	Silent	SNP	ENST00000307358.2	37	CCDS3400.1																																																																																				0.587	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		G	8305998	T	G	8305998	2	3	141	1	0	0	0	0	0	0	0	1	7455	1596	56	5		5	HTRA3	4	8305998	Silent	SNP	T	TCGA-13-1497-01A-01W-0549-09		8305998	182848278	35	7656											
FRAS1	80144	genome.wustl.edu	37	4	79351519	79351519	+	Silent	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr4:79351519G>A	ENST00000325942.6	+	37	5357	c.4917G>A	c.(4915-4917)caG>caA	p.Q1639Q	FRAS1_ENST00000264895.6_Silent_p.Q1639Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1639					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.Q1639Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACCTCCACAGCATGGTGTGC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	4											63	65	64					4																	79351519		1961	4173	6134	79570543	SO:0001819	synonymous_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4917G>A	4.37:g.79351519G>A			79570543	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	0.284	-0.984419	0.02180	.	.	ENSG00000138759	ENST00000510944	.	.	.	5.68	3.85	0.44370	.	.	.	.	.	T	0.55513	0.1925	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52888	-0.8515	4	.	.	.	.	6.2983	0.21099	0.075:0.1109:0.6522:0.1619	.	.	.	.	T	89	.	.	A	+	1	0	FRAS1	79570543	0.266000	0.24112	0.901000	0.35422	0.053000	0.15095	0.468000	0.22051	1.536000	0.49237	0.591000	0.81541	GCA		0.522	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	79351519	G	A	79351519	2	1	141	1	0	0	0	0	0	0	0	1	6042	962	34	2		2	FRAS1	4	79351519	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09	71045521	79351519	111802757	36	7657											
NHEDC1	150159	genome.wustl.edu	37	4	103827787	103827787	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr4:103827787C>G	ENST00000296422.7	-	10	1242	c.1101G>C	c.(1099-1101)aaG>aaC	p.K367N	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.K367N	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	367					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.K367N(1)									TCGTAATAATCTTTTGGACTT	0.303																																																1	Substitution - Missense(1)	ovary(1)	4											25	33	30					4																	103827787		1310	2254	3564	104047236	SO:0001583	missense	150159			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1101G>C	4.37:g.103827787C>G	ENSP00000296422:p.Lys367Asn		104047236	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732296	0.30684	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000511253	T;T;T	0.48522	2.19;2.2;0.81	3.25	-0.657	0.11432	.	0.800333	0.11877	N	0.520894	T	0.52108	0.1714	M	0.78637	2.42	0.09310	N	0.999998	P;D;P	0.53151	0.868;0.958;0.948	P;P;P	0.52598	0.674;0.703;0.66	T	0.44128	-0.9348	10	0.52906	T	0.07	-26.2824	2.6838	0.05102	0.3296:0.2123:0.0:0.458	.	135;367;367	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	N	367;367;92	ENSP00000378269:K367N;ENSP00000296422:K367N;ENSP00000425544:K92N	ENSP00000296422:K367N	K	-	3	2	SLC9B1	104047236	0.881000	0.30235	0.032000	0.17829	0.140000	0.21249	0.019000	0.13444	-0.113000	0.11958	-0.482000	0.04802	AAG		0.303	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		G	103827787	C	G	103827787	3	3	141	1	0	0	0	0	1	0	0	0	10400	912	32	3	558	3	NHEDC1	4	103827787	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	24476268	103827787	87326489	37	7658											
FBXL7	23194	genome.wustl.edu	37	5	15928325	15928325	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr5:15928325C>T	ENST00000504595.1	+	3	935	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	FBXL7_ENST00000329673.7_Missense_Mutation_p.R140W|FBXL7_ENST00000510662.1_Missense_Mutation_p.R105W	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	152	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R152W(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGGGACCCGCGGCTCTGGAG	0.667																																																1	Substitution - Missense(1)	ovary(1)	5											16	20	18					5																	15928325		2059	4212	6271	15981325	SO:0001583	missense	23194			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.454C>T	5.37:g.15928325C>T	ENSP00000423630:p.Arg152Trp		15981325	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135302	0.77662	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.44482	0.92;0.92;0.92	5.46	5.46	0.80206	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	L	0.55213	1.73	0.58432	D	0.999998	D	0.89917	1.0	D	0.70016	0.967	T	0.63655	-0.6588	10	0.87932	D	0	.	19.3032	0.94151	0.0:1.0:0.0:0.0	.	152	Q9UJT9	FBXL7_HUMAN	W	152;105;140	ENSP00000423630:R152W;ENSP00000425184:R105W;ENSP00000329632:R140W	ENSP00000329632:R140W	R	+	1	2	FBXL7	15981325	0.995000	0.38212	1.000000	0.80357	0.879000	0.50718	3.058000	0.49939	2.576000	0.86940	0.561000	0.74099	CGG		0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		T	15928325	C	T	15928325	3	4	141	1	0	0	0	0	1	0	0	0	5724	759	27	1	464	1	FBXL7	5	15928325	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09		15928325	164986935	38	7659											
CMYA5	202333	genome.wustl.edu	37	5	79032363	79032363	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr5:79032363C>T	ENST00000446378.2	+	2	7806	c.7775C>T	c.(7774-7776)aCa>aTa	p.T2592I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2592					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.T2592I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTTAAAGCTACATCAGTTACT	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											67	65	66					5																	79032363		1861	4105	5966	79068119	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7775C>T	5.37:g.79032363C>T	ENSP00000394770:p.Thr2592Ile		79068119	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	6.004	0.369178	0.11352	.	.	ENSG00000164309	ENST00000446378	T	0.20332	2.08	5.05	1.96	0.26148	.	1.152960	0.06326	N	0.705300	T	0.15176	0.0366	L	0.33485	1.01	0.09310	N	1	B	0.21381	0.055	B	0.15052	0.012	T	0.30416	-0.9979	10	0.40728	T	0.16	.	3.4019	0.07327	0.2142:0.5624:0.0:0.2234	.	2592	Q8N3K9	CMYA5_HUMAN	I	2592	ENSP00000394770:T2592I	ENSP00000394770:T2592I	T	+	2	0	CMYA5	79068119	0.000000	0.05858	0.002000	0.10522	0.567000	0.35839	0.035000	0.13797	0.683000	0.31428	0.561000	0.74099	ACA		0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79032363	C	T	79032363	3	4	141	1	0	0	0	0	1	0	0	0	3590	478	17	2	7781	2	CMYA5	5	79032363	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	63104038	79032363	101882897	39	7660											
ARSI	340075	genome.wustl.edu	37	5	149676887	149676887	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr5:149676887C>A	ENST00000328668.7	-	2	2179	c.1600G>T	c.(1600-1602)Ggg>Tgg	p.G534W		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	534					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.G534W(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGCCCTCCCTTCCTCTTCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	5											103	115	111					5																	149676887		2203	4300	6503	149657080	SO:0001583	missense	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1600G>T	5.37:g.149676887C>A	ENSP00000333395:p.Gly534Trp		149657080	A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	4.499	0.092492	0.08632	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97209	-4.29;-3.4	4.56	4.56	0.56223	.	0.474564	0.23300	N	0.049685	D	0.95582	0.8564	L	0.51422	1.61	0.18873	N	0.999989	P	0.50066	0.931	P	0.48488	0.579	D	0.91242	0.5022	10	0.72032	D	0.01	.	8.46	0.32923	0.0:0.8961:0.0:0.1039	.	534	Q5FYB1	ARSI_HUMAN	W	534;391	ENSP00000333395:G534W;ENSP00000426879:G391W	ENSP00000333395:G534W	G	-	1	0	ARSI	149657080	0.006000	0.16342	0.266000	0.24541	0.034000	0.12701	1.012000	0.29924	2.356000	0.79943	0.643000	0.83706	GGG		0.562	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		A	149676887	C	A	149676887	3	1	141	1	0	0	0	0	1	0	0	0	994	681	24	3	113	3	ARSI	5	149676887	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	70644524	149676887	31238373	40	7661											
GPLD1	2822	genome.wustl.edu	37	6	24462987	24462987	+	Silent	SNP	T	T	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr6:24462987T>A	ENST00000230036.1	-	11	968	c.858A>T	c.(856-858)gcA>gcT	p.A286A		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	286					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.A286A(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGCCGCCACATGCAATGAACA	0.453																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	6											140	139	140					6																	24462987		2203	4300	6503	24570966	SO:0001819	synonymous_variant	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.858A>T	6.37:g.24462987T>A			24570966	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	CCDS4553.1																																																																																				0.453	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		A	24462987	T	A	24462987	2	1	141	1	0	0	0	0	0	0	0	1	6614	1451	51	5		5	GPLD1	6	24462987	Silent	SNP	T	TCGA-13-1497-01A-01W-0549-09		24462987	146652080	41	7662											
TRIM26	7726	genome.wustl.edu	37	6	30164453	30164453	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr6:30164453C>T	ENST00000454678.2	-	6	1041	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	TRIM26_ENST00000487829.1_5'Flank|TRIM26_ENST00000437089.1_Missense_Mutation_p.R202Q|TRIM26_ENST00000453195.1_Missense_Mutation_p.R202Q	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	202					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.R202Q(2)		lung(1)|ovary(2)	3						GTGTTCCTCCCGCTCCCTCAG	0.632																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	6											55	47	50					6																	30164453		2203	4300	6503	30272432	SO:0001583	missense	7726			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.605G>A	6.37:g.30164453C>T	ENSP00000410446:p.Arg202Gln		30272432	A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217521	0.39201	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345	T;T;T;T	0.70045	3.59;3.59;3.59;-0.45	5.71	4.84	0.62591	.	0.187799	0.26170	N	0.025927	T	0.39091	0.1065	L	0.32530	0.975	0.24814	N	0.992629	D	0.56035	0.974	P	0.45639	0.488	T	0.28839	-1.0031	10	0.14252	T	0.57	.	12.7067	0.57063	0.0:0.9201:0.0:0.0799	.	202	Q12899	TRI26_HUMAN	Q	202;202;202;202;127	ENSP00000391879:R202Q;ENSP00000410446:R202Q;ENSP00000395491:R202Q;ENSP00000413673:R202Q	ENSP00000413673:R202Q	R	-	2	0	TRIM26	30272432	0.959000	0.32827	1.000000	0.80357	0.936000	0.57629	3.926000	0.56491	1.439000	0.47511	-0.169000	0.13324	CGG		0.632	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		T	30164453	C	T	30164453	3	4	141	1	0	0	0	0	1	0	0	0	16500	652	23	1	1034	1	TRIM26	6	30164453	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	5701466	30164453	140950614	42	7663											
TTK	7272	genome.wustl.edu	37	6	80721178	80721178	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr6:80721178C>G	ENST00000369798.2	+	6	752	c.641C>G	c.(640-642)tCa>tGa	p.S214*	TTK_ENST00000230510.3_Nonsense_Mutation_p.S214*|TTK_ENST00000509894.1_Nonsense_Mutation_p.S214*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	214					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.S198*(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GCCCAAGAATCATTTTCCGGT	0.333																																																1	Substitution - Nonsense(1)	ovary(1)	6											58	59	59					6																	80721178		2201	4299	6500	80777897	SO:0001587	stop_gained	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.641C>G	6.37:g.80721178C>G	ENSP00000358813:p.Ser214*		80777897	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Nonsense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	43	10.063690	0.99329	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	.	.	.	5.23	4.36	0.52297	.	0.911955	0.09518	N	0.791288	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	9.7522	0.40483	0.0:0.9046:0.0:0.0954	.	.	.	.	X	214	.	ENSP00000230510:S214X	S	+	2	0	TTK	80777897	0.976000	0.34144	0.814000	0.32528	0.915000	0.54546	2.469000	0.45110	1.327000	0.45338	0.561000	0.74099	TCA		0.333	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			G	80721178	C	G	80721178	4	3	141	1	0	0	0	0	0	1	0	0	16720	838	29	3	659	3	TTK	6	80721178	Nonsense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	50556725	80721178	90393889	43	7664											
ROS1	6098	genome.wustl.edu	37	6	117715380	117715380	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr6:117715380G>T	ENST00000368508.3	-	10	1307	c.1109C>A	c.(1108-1110)tCt>tAt	p.S370Y	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S379Y	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	370			S -> P (in dbSNP:rs56274823). {ECO:0000269|PubMed:17344846}.		cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S370Y(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGAGATAGAAGAAATTAATCC	0.373			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	1	Substitution - Missense(1)	ovary(1)	6											52	55	54					6																	117715380		2202	4300	6502	117822073	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1109C>A	6.37:g.117715380G>T	ENSP00000357494:p.Ser370Tyr		117822073	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518395	0.44763	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91351	-2.83;-2.83	5.12	5.12	0.69794	.	0.300661	0.29152	N	0.012996	D	0.87358	0.6157	L	0.56769	1.78	0.80722	D	1	D	0.55385	0.971	P	0.50440	0.641	D	0.85647	0.1280	10	0.34782	T	0.22	.	9.4876	0.38940	0.0795:0.1454:0.775:0.0	.	370	P08922	ROS1_HUMAN	Y	370;379	ENSP00000357494:S370Y;ENSP00000357493:S379Y	ENSP00000357493:S379Y	S	-	2	0	ROS1	117822073	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.843000	0.55865	2.773000	0.95371	0.650000	0.86243	TCT		0.373	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117715380	G	T	117715380	3	4	141	1	0	0	0	0	1	0	0	0	13534	942	33	3	6070	3	ROS1	6	117715380	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	36994202	117715380	53399687	44	7665											
MTHFD1L	25902	genome.wustl.edu	37	6	151358145	151358178	+	Frame_Shift_Del	DEL	TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	-	rs202243690		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	-	TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr6:151358145_151358178delTCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	ENST00000367321.3	+	26	3013_3046	c.2739_2772delTCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	c.(2737-2772)tctctatctcaccaacctgacaaaaaaggtgtgccafs	p.SLSHQPDKKGVP913fs	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	913	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCCACCTTTCTCTATCTCACCAACCTGACAAAAAAGGTGTGCCAAGGGACTTCA	0.462																																																1	Deletion - Frameshift(1)	ovary(1)	6																																								151399871	SO:0001589	frameshift_variant	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2739_2772delTCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	6.37:g.151358145_151358178delTCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	ENSP00000356290:p.Ser913fs		151399838	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Del	DEL	ENST00000367321.3	37	CCDS5228.1																																																																																				0.462	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		-	151358178	TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	-	151358145	7	5	141	1	0	1	0	1	0	0	0	0	9928	1538	54	0	2841	0	MTHFD1L	6	151358145	Frame_Shift_Del	DEL	TCTATCTCACCAACCTGACAAAAAAGGTGTGCCA	TCGA-13-1497-01A-01W-0549-09	33642765	151358145	19756922	45	7666											
TMEM181	57583	genome.wustl.edu	37	6	159002020	159002020	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr6:159002020G>T	ENST00000367090.3	+	3	583	c.572G>T	c.(571-573)aGc>aTc	p.S191I		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	191					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.S191I(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CTAAATAATAGCAAAAAGGTA	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											88	84	85					6																	159002020		1849	4098	5947	158922008	SO:0001583	missense	57583			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.572G>T	6.37:g.159002020G>T	ENSP00000356057:p.Ser191Ile		158922008	Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178153	0.57692	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	.	.	.	4.41	3.52	0.40303	.	0.296750	0.37530	N	0.002049	T	0.40815	0.1132	L	0.36672	1.1	0.42452	D	0.992755	D;D	0.58620	0.983;0.974	P;P	0.53861	0.736;0.736	T	0.42999	-0.9418	9	0.66056	D	0.02	.	10.5886	0.45296	0.0:0.1959:0.804:0.0	.	191;102	Q9P2C4;Q8N4V6	TM181_HUMAN;.	I	98;191	.	ENSP00000323755:S98I	S	+	2	0	TMEM181	158922008	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	4.621000	0.61233	0.969000	0.38237	0.467000	0.42956	AGC		0.403	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		T	159002020	G	T	159002020	3	4	141	1	0	0	0	0	1	0	0	0	16100	971	34	3	582	3	TMEM181	6	159002020	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	7643875	159002020	12113047	46	7667											
FNDC1	84624	genome.wustl.edu	37	6	159670087	159670087	+	Silent	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr6:159670087G>A	ENST00000297267.9	+	16	4907	c.4707G>A	c.(4705-4707)acG>acA	p.T1569T	FNDC1_ENST00000340366.6_Silent_p.T1506T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1569					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T1569T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AATTTGAGACGTCAAGGCCAC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	6											48	52	50					6																	159670087		2002	4162	6164	159590077	SO:0001819	synonymous_variant	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4707G>A	6.37:g.159670087G>A			159590077	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	g	6.471	0.455132	0.12283	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.04	-0.0444	0.13855	.	.	.	.	.	T	0.26412	0.0645	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.17198	-1.0377	4	.	.	.	-11.5266	3.1767	0.06571	0.1264:0.3399:0.3728:0.1608	.	.	.	.	I	1465	.	.	V	+	1	0	FNDC1	159590077	0.235000	0.23794	0.420000	0.26596	0.732000	0.41865	0.286000	0.18902	-0.208000	0.10171	-0.738000	0.03535	GTC		0.463	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159670087	G	A	159670087	2	1	141	1	0	0	0	0	0	0	0	1	5968	1132	40	1		1	FNDC1	6	159670087	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09	668067	159670087	11444980	47	7668											
NUPL2	11097	genome.wustl.edu	37	7	23240128	23240128	+	Missense_Mutation	SNP	G	G	A	rs76834116		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr7:23240128G>A	ENST00000258742.5	+	7	1295	c.1036G>A	c.(1036-1038)Ggt>Agt	p.G346S		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	346	Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.G346S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTGGTTTTGGTAGTCCGGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	7											98	96	97					7																	23240128		2203	4300	6503	23206653	SO:0001583	missense	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.1036G>A	7.37:g.23240128G>A	ENSP00000258742:p.Gly346Ser		23206653	A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429576	0.62844	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.46451	1.02;0.87	6.17	5.26	0.73747	.	0.186317	0.56097	D	0.000024	T	0.53465	0.1798	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.65443	0.935	T	0.44651	-0.9314	10	0.42905	T	0.14	-18.2504	15.4643	0.75387	0.0:0.1383:0.8617:0.0	.	346	O15504	NUPL2_HUMAN	S	346;371	ENSP00000258742:G346S;ENSP00000401475:G371S	ENSP00000258742:G346S	G	+	1	0	NUPL2	23206653	0.998000	0.40836	0.998000	0.56505	0.633000	0.38033	2.423000	0.44705	2.941000	0.99782	0.655000	0.94253	GGT		0.512	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		A	23240128	G	A	23240128	3	1	141	1	0	0	0	0	1	0	0	0	10775	1348	47	2	1062	2	NUPL2	7	23240128	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09		23240128	135898535	48	7669											
HOXA6	3203	genome.wustl.edu	37	7	27187351	27187351	+	Silent	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr7:27187351C>T	ENST00000222728.3	-	1	42	c.18G>A	c.(16-18)gtG>gtA	p.V6V	HOXA6_ENST00000521478.1_Intron|HOXA-AS3_ENST00000524304.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	6					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V6V(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						AAGTGGGATTCACAAAATAGG	0.542											OREG0003757	type=REGULATORY REGION|Gene=HOXA6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - coding silent(1)	ovary(1)	7											29	33	32					7																	27187351		2203	4298	6501	27153876	SO:0001819	synonymous_variant	3203				CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"Homeoboxes / ANTP class : HOXL subclass"	5107	protein-coding gene	gene with protein product		142951	"homeo box A6"	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.18G>A	7.37:g.27187351C>T		792	27153876	A4D192|Q2M3G3|Q9UPM0	Silent	SNP	ENST00000222728.3	37	CCDS5407.1																																																																																				0.542	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			T	27187351	C	T	27187351	2	4	141	1	0	0	0	0	0	0	0	1	7296	813	29	2		2	HOXA6	7	27187351	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	3947223	27187351	131951312	49	7670											
DOCK4	9732	genome.wustl.edu	37	7	111430594	111430594	+	Silent	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr7:111430594C>T	ENST00000437633.1	-	31	3490	c.3234G>A	c.(3232-3234)caG>caA	p.Q1078Q	DOCK4_ENST00000428084.1_Silent_p.Q1078Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1078					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.Q1066Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GAAGATCTGGCTGGGGTATCA	0.443																																																1	Substitution - coding silent(1)	ovary(1)	7											65	64	64					7																	111430594		1877	4103	5980	111217830	SO:0001819	synonymous_variant	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3234G>A	7.37:g.111430594C>T			111217830	O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	9.929	1.214394	0.22289	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.28	3.42	0.39159	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58487	-0.7628	4	.	.	.	.	11.2864	0.49224	0.0:0.8472:0.0:0.1528	.	.	.	.	N	530;1102	.	.	S	-	2	0	DOCK4	111217830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.125000	0.50469	0.859000	0.35456	0.655000	0.94253	AGC		0.443	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111430594	C	T	111430594	2	4	141	1	0	0	0	0	0	0	0	1	4689	796	28	2		2	DOCK4	7	111430594	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	84243243	111430594	47708069	50	7671											
EPHA1	2041	genome.wustl.edu	37	7	143088585	143088585	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr7:143088585G>A	ENST00000275815.3	-	18	2982	c.2896C>T	c.(2896-2898)Cgc>Tgc	p.R966C	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	966	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R966C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAAAGAATGCGCTTCTGGTGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	7											94	61	72					7																	143088585		2203	4300	6503	142798707	SO:0001583	missense	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2896C>T	7.37:g.143088585G>A	ENSP00000275815:p.Arg966Cys		142798707	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139165	0.77775	.	.	ENSG00000146904	ENST00000275815	T	0.55234	0.53	5.24	5.24	0.73138	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.56097	D	0.000029	T	0.77837	0.4190	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82563	-0.0395	10	0.87932	D	0	.	13.1812	0.59655	0.0:0.0:0.7447:0.2553	.	966	P21709	EPHA1_HUMAN	C	966	ENSP00000275815:R966C	ENSP00000275815:R966C	R	-	1	0	EPHA1	142798707	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.777000	0.55364	2.724000	0.93272	0.561000	0.74099	CGC		0.622	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			A	143088585	G	A	143088585	3	1	141	1	0	0	0	0	1	0	0	0	5165	1087	38	1	38	1	EPHA1	7	143088585	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	31657991	143088585	16050078	51	7672											
MLL3	58508	genome.wustl.edu	37	7	151860167	151860167	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr7:151860167G>C	ENST00000262189.6	-	43	10713	c.10495C>G	c.(10495-10497)Caa>Gaa	p.Q3499E	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q3499E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3499	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q3499E(1)									ATGAAAGTTTGGGTGGAGGGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	7											144	146	146					7																	151860167		2203	4300	6503	151491100	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10495C>G	7.37:g.151860167G>C	ENSP00000262189:p.Gln3499Glu		151491100	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.885|4.885	0.164516|0.164516	0.09287|0.09287	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.88277	.|-1.81;-1.82;-2.36	5.27|5.27	4.38|4.38	0.52667|0.52667	.|.	.|0.524747	.|0.15729	.|N	.|0.247504	D|D	0.83737|0.83737	0.5319|0.5319	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.33777	.|0.19;0.425;0.034	.|B;B;B	.|0.29663	.|0.05;0.105;0.023	T|T	0.75442|0.75442	-0.3316|-0.3316	5|10	.|0.49607	.|T	.|0.09	.|.	8.4696|8.4696	0.32977|0.32977	0.0:0.2419:0.4686:0.2894|0.0:0.2419:0.4686:0.2894	.|.	.|3499;2560;3499	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	R|E	1004|3499;3499;85	.|ENSP00000262189:Q3499E;ENSP00000347325:Q3499E;ENSP00000410411:Q85E	.|ENSP00000262189:Q3499E	P|Q	-|-	2|1	0|0	MLL3|MLL3	151491100|151491100	0.364000|0.364000	0.24997|0.24997	0.111000|0.111000	0.21465|0.21465	0.766000|0.766000	0.43426|0.43426	1.484000|1.484000	0.35508|0.35508	1.197000|1.197000	0.43143|0.43143	0.655000|0.655000	0.94253|0.94253	CCA|CAA		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151860167	G	C	151860167	3	2	141	1	0	0	0	0	1	0	0	0	9622	1357	47	3	4308	3	MLL3	7	151860167	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	8771582	151860167	7278496	52	7673											
CSMD1	64478	genome.wustl.edu	37	8	2815251	2815251	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr8:2815251A>T	ENST00000520002.1	-	64	10339	c.9784T>A	c.(9784-9786)Tta>Ata	p.L3262I	CSMD1_ENST00000602723.1_Missense_Mutation_p.L3085I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3085I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L3261I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L3084I|CSMD1_ENST00000602557.1_Missense_Mutation_p.L3262I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3262	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.L2990I(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)		CTCCATGTTAAATTGGCAAGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	8											96	91	93					8																	2815251		1964	4148	6112	2802658	SO:0001583	missense	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.9784T>A	8.37:g.2815251A>T	ENSP00000430733:p.Leu3262Ile		2802658	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.24|15.24	2.774640|2.774640	0.49786|0.49786	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.65178	.|-0.14;-0.14;-0.14;-0.14	5.48|5.48	-1.05|-1.05	0.10036|0.10036	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.53938	.|D	.|0.000049	T|T	0.78097|0.78097	0.4230|0.4230	M|M	0.89601|0.89601	3.045|3.045	0.35442|0.35442	D|D	0.794941|0.794941	.|D;D;D	.|0.71674	.|0.992;0.998;0.998	.|D;D;D	.|0.85130	.|0.987;0.996;0.997	T|T	0.79438|0.79438	-0.1803|-0.1803	5|10	.|0.28530	.|T	.|0.3	.|.	11.5439|11.5439	0.50681|0.50681	0.6177:0.0:0.3823:0.0|0.6177:0.0:0.3823:0.0	.|.	.|3262;3262;3084	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	Y|I	2678|3085;3262;3123;3261;3084	.|ENSP00000383047:L3085I;ENSP00000430733:L3262I;ENSP00000441462:L3261I;ENSP00000446243:L3084I	.|ENSP00000320445:L3123I	F|L	-|-	2|1	0|2	CSMD1|CSMD1	2802658|2802658	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.384000|0.384000	0.30261|0.30261	1.809000|1.809000	0.38922|0.38922	-0.327000|-0.327000	0.08551|0.08551	-0.304000|-0.304000	0.09214|0.09214	TTT|TTA		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2815251	A	T	2815251	3	4	141	1	0	0	0	0	1	0	0	0	3944	11	1	5	945	5	CSMD1	8	2815251	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09		2815251	143548771	53	7674											
TPD52	7163	genome.wustl.edu	37	8	80976725	80976727	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	TCT	TCT	TCT	-	TCT	TCT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr8:80976725_80976727delTCT	ENST00000379097.3	-	2	603_605	c.241_243delAGA	c.(241-243)agadel	p.R81del	TPD52_ENST00000379096.5_In_Frame_Del_p.R41del|TPD52_ENST00000448733.2_In_Frame_Del_p.R81del|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000520527.1_In_Frame_Del_p.R81del|TPD52_ENST00000518937.1_In_Frame_Del_p.R41del|TPD52_ENST00000517427.1_In_Frame_Del_p.R81del|TPD52_ENST00000537855.1_In_Frame_Del_p.R81del	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	81					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R81del(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TTGCAAGTTCTCTTCTTAGCTCT	0.424																																																1	Deletion - In frame(1)	ovary(1)	8																																								81139282	SO:0001651	inframe_deletion	7163			U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.241_243delAGA	8.37:g.80976728_80976730delTCT	ENSP00000368391:p.Arg81del		81139280	B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	In_Frame_Del	DEL	ENST00000379097.3	37	CCDS34912.1																																																																																				0.424	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		-	80976727	TCT	-	80976725	7	5	141	1	0	1	0	1	0	0	0	0	16397	1548	54	0	528	0	TPD52	8	80976725	In_Frame_Del	DEL	TCT	TCGA-13-1497-01A-01W-0549-09	78161474	80976725	65387297	54	7675											
ANGPT1	284	genome.wustl.edu	37	8	108334357	108334357	+	Splice_Site	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr8:108334357C>T	ENST00000520734.1	-	3	261		c.e3-1		ANGPT1_ENST00000520052.1_Splice_Site|ANGPT1_ENST00000518386.1_5'Flank			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCTAATAAACTACAAGGAAG	0.294																																																2	Unknown(2)	ovary(1)|kidney(1)	8											77	73	74					8																	108334357		2203	4300	6503	108403533	SO:0001630	splice_region_variant	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.25-1G>A	8.37:g.108334357C>T			108403533	Q5HYA0	Splice_Site	SNP	ENST00000520734.1	37		.	.	.	.	.	.	.	.	.	.	C	17.07	3.294573	0.60086	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820	.	.	.	5.77	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5463	0.68032	0.0:0.93:0.0:0.07	.	.	.	.	.	-1	.	.	.	-	.	.	ANGPT1	108403533	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	7.174000	0.77620	1.443000	0.47586	0.655000	0.94253	.		0.294	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290	Intron	T	108334357	C	T	108334357	5	4	141	1	0	0	0	0	0	0	1	0	610	579	20	2	945	2	ANGPT1	8	108334357	Splice_Site	SNP	C	TCGA-13-1497-01A-01W-0549-09	27357632	108334357	38029665	55	7676											
SLC30A8	169026	genome.wustl.edu	37	8	118184798	118184798	+	Missense_Mutation	SNP	G	G	C	rs374485094		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr8:118184798G>C	ENST00000456015.2	+	8	988	c.988G>C	c.(988-990)Gtt>Ctt	p.V330L	SLC30A8_ENST00000519688.1_Missense_Mutation_p.V281L|SLC30A8_ENST00000427715.2_Missense_Mutation_p.V281L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.V281L	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	330					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.V330L(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CAGCCAAGTGGTTCGGAGAGA	0.502																																					Ovarian(162;1202 1922 6011 16223 52092)											1	Substitution - Missense(1)	ovary(1)	8											101	95	97					8																	118184798		2203	4300	6503	118253979	SO:0001583	missense	169026				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.988G>C	8.37:g.118184798G>C	ENSP00000415011:p.Val330Leu		118253979	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545990	0.45383	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.15	2.92	0.33932	.	0.214058	0.42821	D	0.000646	T	0.49677	0.1571	N	0.25957	0.775	0.40253	D	0.978096	B	0.32467	0.372	B	0.40782	0.34	T	0.52442	-0.8575	10	0.62326	D	0.03	-13.302	5.3964	0.16271	0.3492:0.0:0.6508:0.0	.	330	Q8IWU4	ZNT8_HUMAN	L	281;281;281;330	ENSP00000428545:V281L;ENSP00000407505:V281L;ENSP00000431069:V281L;ENSP00000415011:V330L	ENSP00000407505:V281L	V	+	1	0	SLC30A8	118253979	0.979000	0.34478	0.789000	0.31954	0.081000	0.17604	1.972000	0.40540	1.290000	0.44636	0.650000	0.86243	GTT		0.502	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		C	118184798	G	C	118184798	3	2	141	1	0	0	0	0	1	0	0	0	14564	1261	44	3	1018	3	SLC30A8	8	118184798	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	9850441	118184798	28179224	56	7677											
MCART1	92014	genome.wustl.edu	37	9	37887988	37887988	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr9:37887988T>A	ENST00000377716.2	-	3	1303	c.560A>T	c.(559-561)aAt>aTt	p.N187I	SLC25A51_ENST00000380590.3_Missense_Mutation_p.N187I|SLC25A51_ENST00000242275.6_Missense_Mutation_p.N187I|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	187					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.N187I(1)									AAACAAGACATTGCTGAGTCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	9											76	73	74					9																	37887988		2203	4296	6499	37877988	SO:0001583	missense	92014			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"Solute carriers"	23323	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 1"	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.560A>T	9.37:g.37887988T>A	ENSP00000366945:p.Asn187Ile		37877988		Missense_Mutation	SNP	ENST00000377716.2	37	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.122474	0.77436	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.78481	-1.18;-1.18;-1.18	4.64	4.64	0.57946	Mitochondrial carrier domain (2);	0.058414	0.64402	D	0.000004	D	0.87430	0.6175	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88996	0.3418	10	0.87932	D	0	.	12.3163	0.54958	0.0:0.0:0.0:1.0	.	187	Q9H1U9	MCAR1_HUMAN	I	187	ENSP00000369964:N187I;ENSP00000366945:N187I;ENSP00000242275:N187I	ENSP00000242275:N187I	N	-	2	0	MCART1	37877988	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.568000	0.82369	1.868000	0.54150	0.477000	0.44152	AAT		0.463	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		A	37887988	T	A	37887988	3	1	141	1	0	0	0	0	1	0	0	0	9369	1493	52	5	337	5	MCART1	9	37887988	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09		37887988	103325443	57	7678											
ALG2	85365	genome.wustl.edu	37	9	101980889	101980889	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr9:101980889T>G	ENST00000476832.1	-	2	639	c.578A>C	c.(577-579)cAc>cCc	p.H193P	ALG2_ENST00000319033.6_Missense_Mutation_p.H100P	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.H193P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				AGGGTCTATGTGAGACAGGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	9											118	118	118					9																	101980889		2203	4300	6503	101020710	SO:0001583	missense	85365			AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"Glycosyltransferase group 1 domain containing"	23159	protein-coding gene	gene with protein product		607905	"asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.578A>C	9.37:g.101980889T>G	ENSP00000417764:p.His193Pro		101020710	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478686	0.26511	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.77098	-1.07;-1.07	5.38	5.38	0.77491	.	0.352304	0.36740	N	0.002423	T	0.81842	0.4908	M	0.79926	2.475	0.45087	D	0.998101	P;P	0.46912	0.886;0.818	P;B	0.46975	0.533;0.411	T	0.81459	-0.0923	10	0.28530	T	0.3	-14.4437	15.6924	0.77464	0.0:0.0:0.0:1.0	.	100;193	Q9H553-2;Q9H553	.;ALG2_HUMAN	P	193;100	ENSP00000417764:H193P;ENSP00000326609:H100P	ENSP00000432675:H100P	H	-	2	0	ALG2	101020710	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	2.976000	0.49289	2.167000	0.68274	0.528000	0.53228	CAC		0.458	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		G	101980889	T	G	101980889	3	3	141	1	0	0	0	0	1	0	0	0	519	1696	59	5	676	5	ALG2	9	101980889	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09	64092901	101980889	39232542	58	7679											
C9orf84	158401	genome.wustl.edu	37	9	114490176	114490176	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr9:114490176G>A	ENST00000318737.4	-	11	1507	c.1379C>T	c.(1378-1380)gCa>gTa	p.A460V	C9orf84_ENST00000394777.4_Missense_Mutation_p.A421V|C9orf84_ENST00000394779.3_Missense_Mutation_p.A421V|C9orf84_ENST00000374287.3_Missense_Mutation_p.A460V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	460								p.A421V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTTTTGCTGCTCCTTTATC	0.358																																																1	Substitution - Missense(1)	ovary(1)	9											94	95	95					9																	114490176		2203	4300	6503	113529997	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1379C>T	9.37:g.114490176G>A	ENSP00000322108:p.Ala460Val		113529997	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	6.212	0.407305	0.11754	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04917	3.53;3.53;3.54;3.54	5.04	2.16	0.27623	.	0.717261	0.12681	N	0.447949	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B;B;B	0.19200	0.034;0.013;0.034	B;B;B	0.21917	0.025;0.037;0.025	T	0.46414	-0.9193	10	0.23302	T	0.38	-0.0177	4.0165	0.09646	0.1909:0.0:0.621:0.1881	.	421;460;421	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	V	421;421;74;460;460	ENSP00000378259:A421V;ENSP00000378257:A421V;ENSP00000363405:A460V;ENSP00000322108:A460V	ENSP00000322108:A460V	A	-	2	0	C9orf84	113529997	0.017000	0.18338	0.003000	0.11579	0.249000	0.25844	1.619000	0.36965	0.808000	0.34231	0.585000	0.79938	GCA		0.358	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		A	114490176	G	A	114490176	3	1	141	1	0	0	0	0	1	0	0	0	2500	1319	46	2	3019	2	C9orf84	9	114490176	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	12509287	114490176	26723255	59	7680											
FKBP15	23307	genome.wustl.edu	37	9	115969541	115969541	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr9:115969541T>C	ENST00000238256.3	-	3	322	c.205A>G	c.(205-207)Atg>Gtg	p.M69V	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	69					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.M94V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGAGTGCTCATGGTGGCTGGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	9											364	381	375					9																	115969541		2108	4240	6348	115009362	SO:0001583	missense	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.205A>G	9.37:g.115969541T>C	ENSP00000238256:p.Met69Val		115009362	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	T	4.998	0.185392	0.09495	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.28666	2.02;2.02;1.6	6.04	-5.78	0.02362	.	.	.	.	.	T	0.08846	0.0219	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25710	-1.0124	9	0.36615	T	0.2	0.9122	3.7985	0.08749	0.2003:0.4594:0.1151:0.2251	.	69;69;69	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	V	94;69;94	ENSP00000416158:M94V;ENSP00000238256:M69V;ENSP00000415733:M94V	ENSP00000238256:M69V	M	-	1	0	FKBP15	115009362	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.711000	0.05019	-0.601000	0.05783	-0.376000	0.06991	ATG		0.433	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		C	115969541	T	C	115969541	3	2	141	1	0	0	0	0	1	0	0	0	5905	1464	51	4	3558	4	FKBP15	9	115969541	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09	1479365	115969541	25243890	60	7681											
ASS1	445	genome.wustl.edu	37	9	133376404	133376404	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr9:133376404A>C	ENST00000372394.1	+	16	1716	c.1235A>C	c.(1234-1236)aAa>aCa	p.K412T	ASS1_ENST00000352480.5_Missense_Mutation_p.K412T|ASS1_ENST00000372393.3_Missense_Mutation_p.K412T			P00966	ASSY_HUMAN	argininosuccinate synthase 1	412					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.K412T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GTCACTGCCAAATAGACCCGT	0.418																																																1	Substitution - Missense(1)	ovary(1)	9											125	124	125					9																	133376404		2203	4299	6502	132366225	SO:0001583	missense	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.1235A>C	9.37:g.133376404A>C	ENSP00000361471:p.Lys412Thr		132366225	Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.465964	0.43839	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.98835	-5.14;-5.14;-5.14;-5.17	4.6	3.46	0.39613	.	0.000000	0.64402	U	0.000001	D	0.97278	0.9110	N	0.22421	0.69	0.39429	D	0.967057	P;D;D;P;P	0.69078	0.89;0.997;0.997;0.89;0.89	B;P;P;B;B	0.60068	0.441;0.868;0.868;0.441;0.441	D	0.96522	0.9386	10	0.87932	D	0	.	7.9344	0.29920	0.9032:0.0:0.0968:0.0	.	412;295;295;412;412	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	T	412;412;412;412;169	ENSP00000253004:K412T;ENSP00000361471:K412T;ENSP00000361469:K412T;ENSP00000361461:K169T	ENSP00000361470:K412T	K	+	2	0	ASS1	132366225	1.000000	0.71417	0.996000	0.52242	0.717000	0.41224	5.780000	0.68956	0.723000	0.32274	-0.353000	0.07706	AAA		0.418	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		C	133376404	A	C	133376404	3	2	141	1	0	0	0	0	1	0	0	0	1061	14	1	5	1289	5	ASS1	9	133376404	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09	17406863	133376404	7837027	61	7682											
TTF1	7270	genome.wustl.edu	37	9	135277490	135277490	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr9:135277490G>C	ENST00000334270.2	-	2	758	c.719C>G	c.(718-720)tCg>tGg	p.S240W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	240					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S240W(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GCCTGCTTGCGATCCTTCAGG	0.453																																																1	Substitution - Missense(1)	ovary(1)	9											42	43	43					9																	135277490		2203	4300	6503	134267311	SO:0001583	missense	7270			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.719C>G	9.37:g.135277490G>C	ENSP00000333920:p.Ser240Trp		134267311	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	9.523	1.108704	0.20714	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.12147	2.71	1.86	-0.359	0.12571	.	.	.	.	.	T	0.07638	0.0192	L	0.29908	0.895	0.09310	N	1	D	0.56035	0.974	B	0.39562	0.303	T	0.27606	-1.0069	9	0.87932	D	0	.	1.962	0.03388	0.2168:0.0:0.4634:0.3199	.	240	Q15361	TTF1_HUMAN	W	240	ENSP00000333920:S240W	ENSP00000245588:S240W	S	-	2	0	TTF1	134267311	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.018000	0.13422	0.070000	0.16634	-0.518000	0.04402	TCG		0.453	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		C	135277490	G	C	135277490	3	2	141	1	0	0	0	0	1	0	0	0	16718	1059	37	3	2038	3	TTF1	9	135277490	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	1901086	135277490	5935941	62	7683											
KIAA1274	27143	genome.wustl.edu	37	10	72298071	72298071	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr10:72298071G>T	ENST00000263563.6	+	12	1627	c.1359G>T	c.(1357-1359)tgG>tgT	p.W453C		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	453						cytosol (GO:0005829)		p.W453C(1)									TCAGCCGCTGGCTGTGTGCCC	0.662																																																1	Substitution - Missense(1)	ovary(1)	10											56	46	49					10																	72298071		2203	4300	6503	71968077	SO:0001583	missense	27143			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1359G>T	10.37:g.72298071G>T	ENSP00000263563:p.Trp453Cys		71968077	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.071585	0.76301	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.31510	1.49	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70956	-0.4731	10	0.87932	D	0	-19.0291	16.5809	0.84714	0.0:0.0:1.0:0.0	.	453	Q9ULE6	PALD_HUMAN	C	453	ENSP00000263563:W453C	ENSP00000263563:W453C	W	+	3	0	KIAA1274	71968077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.658000	0.74407	2.221000	0.72209	0.561000	0.74099	TGG		0.662	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		T	72298071	G	T	72298071	3	4	141	1	0	0	0	0	1	0	0	0	8220	1212	42	3	1401	3	KIAA1274	10	72298071	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09		72298071	63236676	63	7684											
XPNPEP1	7511	genome.wustl.edu	37	10	111630639	111630639	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr10:111630639G>C	ENST00000502935.1	-	18	1665	c.1546C>G	c.(1546-1548)Cgt>Ggt	p.R516G	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R402G|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.R473G|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R492G					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.R516S(1)|p.R473S(1)|p.R473G(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAAGCTGAACGGGCAAAGGAG	0.433																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	10											88	84	85					10																	111630639		2203	4300	6503	111620629	SO:0001583	missense	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1546C>G	10.37:g.111630639G>C	ENSP00000421566:p.Arg516Gly		111620629		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819565	0.90873	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.65	5.65	0.86999	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	H	0.99966	5.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97317	0.9941	10	0.87932	D	0	-12.8813	17.9059	0.88918	0.0:0.0:1.0:0.0	.	516;473	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	G	516;402;492;473	ENSP00000421566:R516G;ENSP00000358697:R402G;ENSP00000324011:R492G;ENSP00000358694:R473G	ENSP00000324011:R492G	R	-	1	0	XPNPEP1	111620629	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.270000	0.95690	2.673000	0.90976	0.585000	0.79938	CGT		0.433	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			C	111630639	G	C	111630639	3	2	141	1	0	0	0	0	1	0	0	0	17442	1116	39	3	470	3	XPNPEP1	10	111630639	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	39332568	111630639	23904108	64	7685											
ATRNL1	26033	genome.wustl.edu	37	10	116889146	116889146	+	Silent	SNP	T	T	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr10:116889146T>C	ENST00000355044.3	+	5	804	c.678T>C	c.(676-678)tcT>tcC	p.S226S	ATRNL1_ENST00000527407.1_Silent_p.S226S|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	226	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S226S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTAGTGTCTCTGTTCCAAGTC	0.363																																																1	Substitution - coding silent(1)	ovary(1)	10											155	144	148					10																	116889146		2203	4300	6503	116879136	SO:0001819	synonymous_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.678T>C	10.37:g.116889146T>C			116879136	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																				0.363	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		C	116889146	T	C	116889146	2	2	141	1	0	0	0	0	0	0	0	1	1207	1567	55	4		4	ATRNL1	10	116889146	Silent	SNP	T	TCGA-13-1497-01A-01W-0549-09	5258507	116889146	18645601	65	7686											
TACC2	10579	genome.wustl.edu	37	10	123842315	123842315	+	Silent	SNP	G	G	A	rs373182521		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr10:123842315G>A	ENST00000369005.1	+	4	640	c.300G>A	c.(298-300)ccG>ccA	p.P100P	TACC2_ENST00000515603.1_Silent_p.P100P|TACC2_ENST00000453444.2_Silent_p.P100P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.P100P|TACC2_ENST00000334433.3_Silent_p.P100P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	100					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.P100P(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCCACCACCGTCCCAGGAGC	0.642																																																1	Substitution - coding silent(1)	ovary(1)	10						G	,	1,4405	2.1+/-5.4	0,1,2202	71	72	72		,300	-4.6	0	10		72	0,8600		0,0,4300	no	intron,coding-synonymous	TACC2	NM_206861.1,NM_206862.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,100/2949	123842315	1,13005	2203	4300	6503	123832305	SO:0001819	synonymous_variant	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.300G>A	10.37:g.123842315G>A			123832305	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	4.262	0.047626	0.08243	2.27E-4	0.0	ENSG00000138162	ENST00000491540	.	.	.	5.23	-4.62	0.03370	.	.	.	.	.	T	0.27524	0.0676	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27331	-1.0077	4	.	.	.	3.322	7.2034	0.25893	0.2863:0.2916:0.4221:0.0	.	.	.	.	I	114	.	.	V	+	1	0	TACC2	123832305	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.136000	0.10405	-1.759000	0.01313	-2.802000	0.00113	GTC		0.642	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			A	123842315	G	A	123842315	2	1	141	1	0	0	0	0	0	0	0	1	15502	1132	40	1		1	TACC2	10	123842315	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09	6953169	123842315	11692432	66	7687											
OR6A2	8590	genome.wustl.edu	37	11	6816296	6816296	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr11:6816296G>T	ENST00000332601.3	-	1	832	c.644C>A	c.(643-645)cCa>cAa	p.P215Q		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	215					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P215Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACAGAGAGTGGCCCTAGAAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											100	107	104					11																	6816296		2201	4296	6497	6772872	SO:0001583	missense	8590			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.644C>A	11.37:g.6816296G>T	ENSP00000330384:p.Pro215Gln		6772872	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346480	0.41599	.	.	ENSG00000184933	ENST00000332601	T	0.57107	0.42	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.79592	0.4472	M	0.93462	3.42	0.26143	N	0.980249	D	0.89917	1.0	D	0.97110	1.0	T	0.75428	-0.3321	10	0.87932	D	0	.	16.3566	0.83237	0.0:0.0:1.0:0.0	.	215	O95222	OR6A2_HUMAN	Q	215	ENSP00000330384:P215Q	ENSP00000330384:P215Q	P	-	2	0	OR6A2	6772872	0.969000	0.33509	0.634000	0.29324	0.156000	0.22039	5.021000	0.64072	2.809000	0.96659	0.655000	0.94253	CCA		0.493	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		T	6816296	G	T	6816296	3	4	141	1	0	0	0	0	1	0	0	0	11186	1348	47	3	343	3	OR6A2	11	6816296	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09		6816296	128190220	67	7688											
IGSF22	283284	genome.wustl.edu	37	11	18737088	18737088	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr11:18737088C>G	ENST00000513874.1	-	11	1561	c.1422G>C	c.(1420-1422)gaG>gaC	p.E474D	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	474	Ig-like 3.							p.E474D(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAATGATCAGCTCTGCTCGCT	0.532																																																1	Substitution - Missense(1)	ovary(1)	11											132	130	131					11																	18737088		2197	4289	6486	18693664	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1422G>C	11.37:g.18737088C>G	ENSP00000421191:p.Glu474Asp		18693664	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618447	0.28801	.	.	ENSG00000179057	ENST00000513874	T	0.67865	-0.29	4.79	1.85	0.25348	.	0.184738	0.25954	N	0.027240	T	0.74053	0.3666	M	0.68952	2.095	0.22940	N	0.998536	D	0.63046	0.992	D	0.76071	0.987	T	0.61700	-0.7009	10	0.34782	T	0.22	.	5.9951	0.19489	0.0:0.6292:0.1358:0.2351	.	474	D6RGV7	.	D	474	ENSP00000421191:E474D	ENSP00000322422:E474D	E	-	3	2	IGSF22	18693664	0.999000	0.42202	0.427000	0.26684	0.405000	0.30901	0.717000	0.25851	0.098000	0.17522	-0.463000	0.05309	GAG		0.532	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		G	18737088	C	G	18737088	3	3	141	1	0	0	0	0	1	0	0	0	7600	796	28	3	2610	3	IGSF22	11	18737088	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	11920792	18737088	116269428	68	7689											
SLC5A12	159963	genome.wustl.edu	37	11	26695067	26695067	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr11:26695067C>T	ENST00000396005.3	-	14	1898	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	530					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.R530K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCCTCACCTCTTTGGCGACC	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											107	104	105					11																	26695067		1917	4132	6049	26651643	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1589G>A	11.37:g.26695067C>T	ENSP00000379326:p.Arg530Lys		26651643	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	5.796	0.331208	0.10956	.	.	ENSG00000148942	ENST00000396005	T	0.63744	-0.06	5.62	-2.27	0.06846	.	0.739382	0.11716	U	0.536366	T	0.28995	0.0720	N	0.02192	-0.645	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31833	-0.9929	10	0.02654	T	1	.	12.5049	0.55975	0.0:0.1728:0.0:0.8272	.	530	Q1EHB4	SC5AC_HUMAN	K	530	ENSP00000379326:R530K	ENSP00000379326:R530K	R	-	2	0	SLC5A12	26651643	0.000000	0.05858	0.000000	0.03702	0.465000	0.32709	-0.042000	0.12063	-0.514000	0.06488	0.585000	0.79938	AGA		0.363	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		T	26695067	C	T	26695067	3	4	141	1	0	0	0	0	1	0	0	0	14667	913	32	2	275	2	SLC5A12	11	26695067	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	7957979	26695067	108311449	69	7690											
OR4C12	283093	genome.wustl.edu	37	11	50003838	50003838	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr11:50003838A>G	ENST00000335238.4	-	1	233	c.200T>C	c.(199-201)aTa>aCa	p.I67T		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I67T(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AACTGTGTCTATCAAAGAAAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	11											64	67	66					11																	50003838		2201	4296	6497	49960414	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.200T>C	11.37:g.50003838A>G	ENSP00000334418:p.Ile67Thr		49960414	B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	11.17	1.560295	0.27827	.	.	ENSG00000221954	ENST00000335238	T	0.03181	4.02	3.31	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	U	0.000240	T	0.04815	0.0130	L	0.35414	1.06	0.28076	N	0.932378	B	0.30439	0.279	B	0.38921	0.285	T	0.18429	-1.0337	10	0.56958	D	0.05	.	10.0552	0.42241	1.0:0.0:0.0:0.0	.	67	Q96R67	OR4CC_HUMAN	T	67	ENSP00000334418:I67T	ENSP00000334418:I67T	I	-	2	0	OR4C12	49960414	0.001000	0.12720	0.429000	0.26710	0.982000	0.71751	1.646000	0.37249	1.528000	0.49103	0.325000	0.21440	ATA		0.433	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		G	50003838	A	G	50003838	3	3	141	1	0	0	0	0	1	0	0	0	11046	449	16	4	733	4	OR4C12	11	50003838	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09	23308771	50003838	85002678	70	7691											
P2RY6	5031	genome.wustl.edu	37	11	73008401	73008401	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr11:73008401G>T	ENST00000393590.2	+	2	1137	c.838G>T	c.(838-840)Gca>Tca	p.A280S	P2RY6_ENST00000542092.1_Missense_Mutation_p.A280S|P2RY6_ENST00000538328.1_Missense_Mutation_p.A280S|P2RY6_ENST00000540342.1_Missense_Mutation_p.A280S|P2RY6_ENST00000393591.1_Missense_Mutation_p.A280S|P2RY6_ENST00000540124.1_Missense_Mutation_p.A280S|P2RY6_ENST00000349767.2_Missense_Mutation_p.A280S|P2RY6_ENST00000393592.2_Missense_Mutation_p.A280S	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	280					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)	p.A280S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GGAGGCCTTTGCAGCGGCCTA	0.607																																																1	Substitution - Missense(1)	ovary(1)	11											57	57	57					11																	73008401		2200	4292	6492	72686049	SO:0001583	missense	5031				CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.838G>T	11.37:g.73008401G>T	ENSP00000377215:p.Ala280Ser		72686049	Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377424	0.24944	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	4.81	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.063909	0.64402	D	0.000006	T	0.08313	0.0207	N	0.03253	-0.375	0.37884	D	0.930493	P	0.35192	0.489	B	0.30179	0.112	T	0.33292	-0.9874	10	0.18276	T	0.48	.	12.5841	0.56408	0.0801:0.0:0.9199:0.0	.	280	Q15077	P2RY6_HUMAN	S	280	ENSP00000443427:A280S;ENSP00000445652:A280S;ENSP00000309771:A280S;ENSP00000377217:A280S;ENSP00000377216:A280S;ENSP00000442551:A280S;ENSP00000377215:A280S;ENSP00000442990:A280S	ENSP00000309771:A280S	A	+	1	0	P2RY6	72686049	1.000000	0.71417	0.321000	0.25320	0.552000	0.35366	3.772000	0.55325	1.383000	0.46405	0.655000	0.94253	GCA		0.607	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			T	73008401	G	T	73008401	3	4	141	1	0	0	0	0	1	0	0	0	11354	1319	46	3	840	3	P2RY6	11	73008401	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	23004563	73008401	61998115	71	7692											
KBTBD3	143879	genome.wustl.edu	37	11	105929663	105929663	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr11:105929663G>T	ENST00000531482.2	-	1	175	c.162C>A	c.(160-162)ttC>ttA	p.F54L	KBTBD3_ENST00000526793.1_Missense_Mutation_p.F54L|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Missense_Mutation_p.F54L			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	50	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.F54L(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TAATTATTTTGAAATCATAAA	0.328																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	11											81	81	81					11																	105929663		2201	4298	6499	105434873	SO:0001583	missense	143879			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.162C>A	11.37:g.105929663G>T	ENSP00000475836:p.Phe54Leu		105434873	Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000531482.2	37		.	.	.	.	.	.	.	.	.	.	G	16.34	3.096026	0.56075	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.68765	-0.35;-0.35	5.7	2.4	0.29515	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	N	0.25890	0.77	0.46654	D	0.999144	P;D	0.60160	0.704;0.987	P;P	0.62089	0.581;0.898	T	0.65512	-0.6150	10	0.59425	D	0.04	.	9.1383	0.36888	0.3776:0.0:0.6224:0.0	.	54;50	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	L	54	ENSP00000436262:F54L;ENSP00000432163:F54L	ENSP00000436262:F54L	F	-	3	2	KBTBD3	105434873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.805000	0.38883	0.773000	0.33404	-0.137000	0.14449	TTC		0.328	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	NM_152433		T	105929663	G	T	105929663	3	4	141	1	0	0	0	0	1	0	0	0	7994	1281	45	3	1684	3	KBTBD3	11	105929663	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	32921262	105929663	29076853	72	7693											
NCAM1	4684	genome.wustl.edu	37	11	113078569	113078569	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr11:113078569T>C	ENST00000533760.1	+	7	1006	c.407T>C	c.(406-408)aTa>aCa	p.I136T	NCAM1_ENST00000316851.7_Missense_Mutation_p.I244T|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.I253T	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	254	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.I253T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGGGAACAGATAGAGCAAGAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	11											69	67	67					11																	113078569		1979	4163	6142	112583779	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.407T>C	11.37:g.113078569T>C	ENSP00000473281:p.Ile136Thr		112583779	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.	.	.	.	.	.	.	.	.	.	T	18.88	3.716724	0.68844	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68903	-0.36;-0.36	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75817	0.3901	.	.	.	0.80722	D	1	P;P;P;P;P	0.47762	0.878;0.878;0.9;0.797;0.797	P;B;P;P;P	0.51918	0.684;0.404;0.539;0.668;0.656	T	0.79247	-0.1882	9	0.87932	D	0	-25.6106	15.988	0.80176	0.0:0.0:0.0:1.0	.	254;254;254;254;254	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	T	136;253;244	ENSP00000384055:I253T;ENSP00000318472:I244T	ENSP00000318472:I244T	I	+	2	0	NCAM1	112583779	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.205000	0.72148	2.188000	0.69820	0.533000	0.62120	ATA		0.428	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		C	113078569	T	C	113078569	3	2	141	1	0	0	0	0	1	0	0	0	10202	1406	49	4	788	4	NCAM1	11	113078569	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09	7148906	113078569	21927947	73	7694											
TSPAN9	10867	genome.wustl.edu	37	12	3387608	3387608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr12:3387608G>T	ENST00000011898.5	+	4	246	c.85G>T	c.(85-87)Gga>Tga	p.G29*	TSPAN9_ENST00000537971.1_Nonsense_Mutation_p.G29*|TSPAN9_ENST00000407263.1_Nonsense_Mutation_p.G29*|TSPAN9_ENST00000492305.1_3'UTR	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	29						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)		p.G29*(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TGGGCTGCTGGGAGTGGGCAT	0.597																																																1	Substitution - Nonsense(1)	ovary(1)	12											192	162	172					12																	3387608		2203	4300	6503	3257869	SO:0001587	stop_gained	10867			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.85G>T	12.37:g.3387608G>T	ENSP00000011898:p.Gly29*		3257869	D3DUQ7|Q53FV2|Q6FGJ8	Nonsense_Mutation	SNP	ENST00000011898.5	37	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225342	0.95173	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.3675	0.74535	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000011898:G29X	G	+	1	0	TSPAN9	3257869	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.869000	0.99810	2.228000	0.72767	0.561000	0.74099	GGA		0.597	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		T	3387608	G	T	3387608	4	4	141	1	0	0	0	0	0	1	0	0	16654	1233	43	3	91	3	TSPAN9	12	3387608	Nonsense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09		3387608	130464287	74	7695											
LPCAT3	10162	genome.wustl.edu	37	12	7087511	7087511	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr12:7087511C>G	ENST00000261407.4	-	9	1117	c.1032G>C	c.(1030-1032)tgG>tgC	p.W344C	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	344					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.W344C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ACCGGGCCACCCAGGCGTTGG	0.577																																																1	Substitution - Missense(1)	ovary(1)	12											121	130	127					12																	7087511		2203	4300	6503	6957772	SO:0001583	missense	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1032G>C	12.37:g.7087511C>G	ENSP00000261407:p.Trp344Cys		6957772	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540748	0.85917	.	.	ENSG00000111684	ENST00000261407	D	0.86297	-2.1	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94342	0.7571	10	0.87932	D	0	-11.8996	20.1865	0.98220	0.0:1.0:0.0:0.0	.	344	Q6P1A2	MBOA5_HUMAN	C	344	ENSP00000261407:W344C	ENSP00000261407:W344C	W	-	3	0	LPCAT3	6957772	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.981000	0.76166	2.775000	0.95449	0.655000	0.94253	TGG		0.577	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		G	7087511	C	G	7087511	3	3	141	1	0	0	0	0	1	0	0	0	8912	624	22	3	447	3	LPCAT3	12	7087511	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	3699903	7087511	126764384	75	7696											
EPS8	2059	genome.wustl.edu	37	12	15835860	15835860	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr12:15835860G>T	ENST00000281172.5	-	2	462	c.26C>A	c.(25-27)cCc>cAc	p.P9H	EPS8_ENST00000543523.1_Missense_Mutation_p.P9H|EPS8_ENST00000543612.1_Missense_Mutation_p.P9H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	9					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.P9H(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AAAACTACTGGGATGATTAGA	0.299																																																1	Substitution - Missense(1)	ovary(1)	12											84	85	84					12																	15835860		2203	4299	6502	15727127	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.26C>A	12.37:g.15835860G>T	ENSP00000281172:p.Pro9His		15727127	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423185	0.25639	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752;ENST00000543363;ENST00000536793;ENST00000544064	T;T;T;T;T	0.47528	3.34;3.34;3.34;0.84;0.84	5.24	4.34	0.51931	.	0.200282	0.35646	N	0.003061	T	0.37348	0.1000	L	0.47716	1.5	0.80722	D	1	B	0.13145	0.007	B	0.10450	0.005	T	0.14727	-1.0462	10	0.12430	T	0.62	-1.1013	10.9777	0.47475	0.0:0.0:0.8137:0.1863	.	9	Q12929	EPS8_HUMAN	H	9	ENSP00000441867:P9H;ENSP00000281172:P9H;ENSP00000442388:P9H;ENSP00000445235:P9H;ENSP00000440591:P9H	ENSP00000281172:P9H	P	-	2	0	EPS8	15727127	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.230000	0.51286	1.418000	0.47098	0.655000	0.94253	CCC		0.299	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			T	15835860	G	T	15835860	3	4	141	1	0	0	0	0	1	0	0	0	5194	1232	43	3	2522	3	EPS8	12	15835860	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	8748349	15835860	118016035	76	7697											
KRT4	3851	genome.wustl.edu	37	12	53200959	53200959	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr12:53200959C>A	ENST00000551956.1	-	9	1949	c.1457G>T	c.(1456-1458)aGt>aTt	p.S486I	KRT4_ENST00000293774.4_Missense_Mutation_p.S560I|KRT4_ENST00000458244.2_Missense_Mutation_p.S466I			P19013	K2C4_HUMAN	keratin 4	500	Ser-rich.|Tail.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S560I(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCCAAAGCCACTACTCAGGCC	0.552																																					Pancreas(190;284 2995 41444 45903)											1	Substitution - Missense(1)	ovary(1)	12											90	103	99					12																	53200959		2123	4238	6361	51487226	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1457G>T	12.37:g.53200959C>A	ENSP00000448220:p.Ser486Ile		51487226	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	9.193	1.026510	0.19512	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.74106	-0.81;-0.81;-0.81	4.33	4.33	0.51752	.	0.591953	0.15329	N	0.268135	T	0.64148	0.2572	L	0.38175	1.15	0.31860	N	0.621055	B	0.30406	0.278	B	0.24701	0.055	T	0.69007	-0.5259	10	0.42905	T	0.14	.	13.1271	0.59363	0.1602:0.8398:0.0:0.0	.	500	P19013	K2C4_HUMAN	I	486;560;466	ENSP00000448220:S486I;ENSP00000293774:S560I;ENSP00000387904:S466I	ENSP00000293774:S560I	S	-	2	0	KRT4	51487226	0.012000	0.17670	0.948000	0.38648	0.171000	0.22731	0.828000	0.27435	2.427000	0.82271	0.561000	0.74099	AGT		0.552	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		A	53200959	C	A	53200959	3	1	141	1	0	0	0	0	1	0	0	0	8477	565	20	3	109	3	KRT4	12	53200959	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	37365099	53200959	80650936	77	7698											
ERBB3	2065	genome.wustl.edu	37	12	56495392	56495392	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr12:56495392T>A	ENST00000267101.3	+	28	4022	c.3582T>A	c.(3580-3582)gaT>gaA	p.D1194E	ERBB3_ENST00000549832.1_Missense_Mutation_p.D314E|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.D435E|ERBB3_ENST00000415288.2_Missense_Mutation_p.D1135E|ERBB3_ENST00000450146.2_Missense_Mutation_p.D551E|RP11-603J24.9_ENST00000548861.1_Intron|PA2G4_ENST00000303305.6_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1194					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.D1194E(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AAGATGAAGATGAGGAGTATG	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											90	86	87					12																	56495392		2203	4300	6503	54781659	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3582T>A	12.37:g.56495392T>A	ENSP00000267101:p.Asp1194Glu		54781659	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699352	0.30142	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78924	-1.11;-1.01;-1.1;-1.22;-0.94	5.63	-3.65	0.04502	.	0.165850	0.41194	N	0.000927	T	0.49287	0.1548	N	0.17082	0.46	0.39124	D	0.961722	B;B;B	0.15141	0.012;0.007;0.007	B;B;B	0.16722	0.016;0.007;0.008	T	0.07966	-1.0745	10	0.16896	T	0.51	.	1.6999	0.02870	0.1104:0.2207:0.2772:0.3917	.	1135;314;1194	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	E	1194;551;1135;317;435;314	ENSP00000267101:D1194E;ENSP00000399178:D551E;ENSP00000408340:D1135E;ENSP00000449129:D435E;ENSP00000448729:D314E	ENSP00000267101:D1194E	D	+	3	2	ERBB3	54781659	0.015000	0.18098	0.997000	0.53966	0.998000	0.95712	-1.853000	0.01666	-0.202000	0.10268	0.533000	0.62120	GAT		0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			A	56495392	T	A	56495392	3	1	141	1	0	0	0	0	1	0	0	0	5208	1461	51	5	3823	5	ERBB3	12	56495392	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09	3294433	56495392	77356503	78	7699											
NAP1L1	4673	genome.wustl.edu	37	12	76447075	76447075	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr12:76447075T>G	ENST00000261182.8	-	10	1312	c.826A>C	c.(826-828)Aag>Cag	p.K276Q	NAP1L1_ENST00000552342.1_Missense_Mutation_p.K287Q|NAP1L1_ENST00000547773.1_Missense_Mutation_p.K213Q|NAP1L1_ENST00000547993.1_Missense_Mutation_p.K93Q|NAP1L1_ENST00000548044.1_Missense_Mutation_p.K235Q|NAP1L1_ENST00000542344.1_Missense_Mutation_p.K234Q|NAP1L1_ENST00000431879.3_Missense_Mutation_p.K208Q|NAP1L1_ENST00000393263.3_Missense_Mutation_p.K276Q|NAP1L1_ENST00000549596.1_Missense_Mutation_p.K276Q|NAP1L1_ENST00000535020.2_Missense_Mutation_p.K276Q|NAP1L1_ENST00000544816.1_Missense_Mutation_p.K93Q	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	276					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K276Q(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TGTTTCTGCTTCTTCTTAATA	0.353																																																1	Substitution - Missense(1)	ovary(1)	12											135	137	136					12																	76447075		2203	4300	6503	74733342	SO:0001583	missense	4673				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.826A>C	12.37:g.76447075T>G	ENSP00000261182:p.Lys276Gln		74733342	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940831	0.73557	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	M	0.66939	2.045	0.80722	D	1	P;P;P;P;B;B;P	0.44260	0.454;0.455;0.454;0.704;0.18;0.061;0.83	P;P;P;P;B;B;P	0.49477	0.495;0.461;0.495;0.612;0.248;0.152;0.612	T	0.65821	-0.6075	10	0.59425	D	0.04	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	276;234;287;276;208;213;276	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	Q	276;270;276;208;213;93;234;276;276;93;287;235	ENSP00000261182:K276Q;ENSP00000450236:K270Q;ENSP00000376947:K276Q;ENSP00000409795:K208Q;ENSP00000448167:K213Q;ENSP00000437507:K93Q;ENSP00000444759:K234Q;ENSP00000445008:K276Q;ENSP00000447793:K276Q;ENSP00000448007:K93Q;ENSP00000447196:K287Q;ENSP00000449649:K235Q	ENSP00000261182:K276Q	K	-	1	0	NAP1L1	74733342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.037000	0.88933	2.282000	0.76494	0.529000	0.55759	AAG		0.353	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		G	76447075	T	G	76447075	3	3	141	1	0	0	0	0	1	0	0	0	10156	1792	62	5	373	5	NAP1L1	12	76447075	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09	19951683	76447075	57404820	79	7700											
NUAK1	9891	genome.wustl.edu	37	12	106460898	106460898	+	Silent	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr12:106460898G>C	ENST00000261402.2	-	7	3047	c.1668C>G	c.(1666-1668)gtC>gtG	p.V556V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	556					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.V556V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCTCGGCAGGGACACCAGGCT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	12											43	50	47					12																	106460898		2203	4300	6503	104985028	SO:0001819	synonymous_variant	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1668C>G	12.37:g.106460898G>C			104985028	A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	CCDS31892.1																																																																																				0.592	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		C	106460898	G	C	106460898	2	2	141	1	0	0	0	0	0	0	0	1	10712	1161	41	3		3	NUAK1	12	106460898	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09	30013823	106460898	27390997	80	7701											
KDM2B	84678	genome.wustl.edu	37	12	121877819	121877819	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr12:121877819C>A	ENST00000377071.4	-	22	3742	c.3670G>T	c.(3670-3672)Gac>Tac	p.D1224Y	KDM2B_ENST00000542973.1_Missense_Mutation_p.D592Y|KDM2B_ENST00000377069.4_Missense_Mutation_p.D1155Y|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1224					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.D863Y(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTGTGATGTCCAGGCCTGCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	12											84	100	94					12																	121877819		2169	4254	6423	120362202	SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3670G>T	12.37:g.121877819C>A	ENSP00000366271:p.Asp1224Tyr		120362202	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123817	0.94429	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.36520	1.25;1.25;1.25	5.82	5.82	0.92795	.	0.000000	0.56097	D	0.000035	T	0.66548	0.2800	M	0.82323	2.585	0.80722	D	1	P;D;D;P	0.89917	0.936;1.0;1.0;0.911	P;D;D;P	0.87578	0.727;0.998;0.998;0.643	T	0.69591	-0.5104	10	0.87932	D	0	-36.9044	20.1054	0.97890	0.0:1.0:0.0:0.0	.	664;1224;1155;667	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	Y	1214;592;1155;1224;667;1227	ENSP00000437821:D592Y;ENSP00000366269:D1155Y;ENSP00000366271:D1224Y	ENSP00000261824:D1227Y	D	-	1	0	KDM2B	120362202	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.757000	0.94681	0.655000	0.94253	GAC		0.602	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		A	121877819	C	A	121877819	3	1	141	1	0	0	0	0	1	0	0	0	8125	855	30	3	400	3	KDM2B	12	121877819	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	15416921	121877819	11974076	81	7702											
GOLGA3	2802	genome.wustl.edu	37	12	133373164	133373164	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr12:133373164C>G	ENST00000450791.2	-	9	2244	c.2061G>C	c.(2059-2061)atG>atC	p.M687I	GOLGA3_ENST00000204726.3_Missense_Mutation_p.M687I|GOLGA3_ENST00000537452.1_Missense_Mutation_p.M687I|GOLGA3_ENST00000456883.2_Missense_Mutation_p.M687I|GOLGA3_ENST00000545875.1_Missense_Mutation_p.M687I			Q08378	GOGA3_HUMAN	golgin A3	687	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.M687I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCGAGTCCGCCATCCTCTGCA	0.627																																																1	Substitution - Missense(1)	ovary(1)	12											154	150	151					12																	133373164		2203	4300	6503	131883237	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2061G>C	12.37:g.133373164C>G	ENSP00000410378:p.Met687Ile		131883237	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	9.100	1.003992	0.19199	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29917	1.98;1.98;1.98;1.55;1.55	5.48	2.58	0.30949	.	0.392164	0.31290	N	0.007916	T	0.22975	0.0555	L	0.52364	1.645	0.80722	D	1	P;B;B	0.34615	0.459;0.136;0.255	B;B;B	0.29353	0.101;0.071;0.068	T	0.02991	-1.1085	10	0.34782	T	0.22	.	8.1754	0.31278	0.0:0.6795:0.0:0.3205	.	687;687;687	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	I	687	ENSP00000204726:M687I;ENSP00000410378:M687I;ENSP00000409303:M687I;ENSP00000442143:M687I;ENSP00000442603:M687I	ENSP00000204726:M687I	M	-	3	0	GOLGA3	131883237	1.000000	0.71417	0.202000	0.23494	0.044000	0.14063	0.992000	0.29667	0.241000	0.21283	-0.140000	0.14226	ATG		0.627	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		G	133373164	C	G	133373164	3	3	141	1	0	0	0	0	1	0	0	0	6554	594	21	3	2633	3	GOLGA3	12	133373164	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	11495345	133373164	478731	82	7703											
TUBA3C	7278	genome.wustl.edu	37	13	19752417	19752417	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr13:19752417A>G	ENST00000400113.3	-	3	448	c.344T>C	c.(343-345)gTc>gCc	p.V115A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	115					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.V115A(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GACCAGGTCGACGATCTCCTT	0.537																																																1	Substitution - Missense(1)	ovary(1)	13											214	185	195					13																	19752417		2203	4300	6503	18650417	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.344T>C	13.37:g.19752417A>G	ENSP00000382982:p.Val115Ala		18650417	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	a	10.19	1.280908	0.23392	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.66638	-0.22	1.53	1.53	0.23141	.	0.000000	0.42294	U	0.000732	T	0.68550	0.3013	.	.	.	0.36898	D	0.890278	.	.	.	.	.	.	T	0.73056	-0.4103	7	0.87932	D	0	.	7.129	0.25488	1.0:0.0:0.0:0.0	.	.	.	.	A	115	ENSP00000382982:V115A	ENSP00000354037:V115A	V	-	2	0	TUBA3C	18650417	1.000000	0.71417	0.991000	0.47740	0.925000	0.55904	7.512000	0.81728	0.958000	0.37956	0.347000	0.21830	GTC		0.537	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		G	19752417	A	G	19752417	3	3	141	1	0	0	0	0	1	0	0	0	16746	275	10	4	1020	4	TUBA3C	13	19752417	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09		19752417	95417461	83	7704											
ALG11	440138	genome.wustl.edu	37	13	52593272	52593272	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	G	C	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr13:52593272C>G	ENST00000521508.1	+	2	273	c.268C>G	c.(268-270)Cag>Gag	p.Q90E	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	90					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.Q90E(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		AAGAGCCCTGCAGAAAAAGTA	0.308																																																1	Substitution - Missense(1)	ovary(1)	13											51	48	49					13																	52593272		2203	4300	6503	51491273	SO:0001583	missense	440138			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.268C>G	13.37:g.52593272C>G	ENSP00000430236:p.Gln90Glu		51491273	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361710	0.61403	.	.	ENSG00000253710	ENST00000521508	T	0.63744	-0.06	5.65	5.65	0.86999	.	0.140334	0.48286	U	0.000183	T	0.81763	0.4891	M	0.90309	3.105	0.80722	D	1	D	0.69078	0.997	P	0.59288	0.855	D	0.85242	0.1039	10	0.72032	D	0.01	.	19.7121	0.96100	0.0:1.0:0.0:0.0	.	90	Q2TAA5	ALG11_HUMAN	E	90	ENSP00000430236:Q90E	ENSP00000430236:Q90E	Q	+	1	0	ALG11	51491273	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.461000	0.60115	2.664000	0.90586	0.579000	0.79373	CAG		0.308	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		G	52593272	C	G	52593272	3	3	141	1	0	0	0	0	1	0	0	0	513	711	25	3	274	3	ALG11	13	52593272	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	32840855	52593272	62576606	84	7705											
NALCN	259232	genome.wustl.edu	37	13	101714348	101714348	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr13:101714348A>G	ENST00000251127.6	-	41	4808	c.4727T>C	c.(4726-4728)cTc>cCc	p.L1576P	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1576					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.L1576P(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCACTTCTTGAGCCACATGCG	0.612																																																1	Substitution - Missense(1)	ovary(1)	13											124	89	101					13																	101714348		2203	4300	6503	100512349	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4727T>C	13.37:g.101714348A>G	ENSP00000251127:p.Leu1576Pro		100512349	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632084	0.87660	.	.	ENSG00000102452	ENST00000251127	D	0.98684	-5.07	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.99919	1.1240	10	0.87932	D	0	.	16.1755	0.81847	1.0:0.0:0.0:0.0	.	1576	Q8IZF0	NALCN_HUMAN	P	1576	ENSP00000251127:L1576P	ENSP00000251127:L1576P	L	-	2	0	NALCN	100512349	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.700000	0.91322	2.226000	0.72624	0.528000	0.53228	CTC		0.612	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		G	101714348	A	G	101714348	3	3	141	1	0	0	0	0	1	0	0	0	10148	304	11	4	505	4	NALCN	13	101714348	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09	49121076	101714348	13455530	85	7706											
TM9SF1	10548	genome.wustl.edu	37	14	24662160	24662160	+	Missense_Mutation	SNP	G	G	A	rs148227366		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr14:24662160G>A	ENST00000261789.4	-	3	1019	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	TM9SF1_ENST00000396854.4_Missense_Mutation_p.R221C|TM9SF1_ENST00000556387.1_Missense_Mutation_p.R430C|TM9SF1_ENST00000528669.1_Missense_Mutation_p.R221C|TM9SF1_ENST00000530611.1_Missense_Mutation_p.R430C|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Missense_Mutation_p.R134C	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	221					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.R221C(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TCGTCACCACGGCGCCTGTCA	0.527													G|||	1	0.000199681	0	0	5008	,	,		20436	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	14						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	101	89	93		661,661	4.2	1	14	dbSNP_134	93	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	TM9SF1	NM_001014842.1,NM_006405.5	180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging	221/490,221/607	24662160	4,13002	2203	4300	6503	23732000	SO:0001583	missense	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.661C>T	14.37:g.24662160G>A	ENSP00000261789:p.Arg221Cys		23732000	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	CCDS9617.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.1	4.238247	0.79800	0.0	4.65E-4	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000530611	T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.1	4.21	0.49690	.	0.193921	0.44097	N	0.000497	T	0.80949	0.4722	M	0.75085	2.285	0.80722	D	1	D;D;D	0.76494	0.999;0.984;0.98	D;P;P	0.65140	0.932;0.773;0.72	T	0.82684	-0.0335	10	0.72032	D	0.01	-7.15	11.1158	0.48259	0.0886:0.0:0.9114:0.0	.	221;221;221	E9PJM1;Q86SZ6;O15321	.;.;TM9S1_HUMAN	C	221;221;430;134;221;221;134;221;221;430	ENSP00000261789:R221C;ENSP00000432997:R221C;ENSP00000451949:R430C;ENSP00000434387:R134C;ENSP00000380063:R221C;ENSP00000431447:R221C;ENSP00000437127:R134C;ENSP00000435857:R221C;ENSP00000432435:R221C;ENSP00000433967:R430C	ENSP00000433967:R430C	R	-	1	0	TM9SF1;RP11-468E2.1	23732000	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.463000	0.90377	1.377000	0.46286	0.655000	0.94253	CGT		0.527	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		A	24662160	G	A	24662160	3	1	141	1	0	0	0	0	1	0	0	0	15977	1116	39	1	1218	1	TM9SF1	14	24662160	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09		24662160	82687380	86	7707											
CLEC14A	161198	genome.wustl.edu	37	14	38724467	38724467	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr14:38724467C>A	ENST00000342213.2	-	1	1107	c.761G>T	c.(760-762)gGc>gTc	p.G254V		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	254	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G254V(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGCGCATTTGCCAGCACGGAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	14											107	117	114					14																	38724467		2203	4300	6503	37794218	SO:0001583	missense	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.761G>T	14.37:g.38724467C>A	ENSP00000353013:p.Gly254Val		37794218	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817706	0.50633	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.79454	-1.27	3.81	3.81	0.43845	Epidermal growth factor-like (1);	0.093019	0.39544	N	0.001322	T	0.80742	0.4681	L	0.34521	1.04	0.50039	D	0.999844	D	0.89917	1.0	D	0.91635	0.999	T	0.82010	-0.0669	10	0.87932	D	0	-16.8606	11.4733	0.50282	0.0:1.0:0.0:0.0	.	254	Q86T13	CLC14_HUMAN	V	254;19	ENSP00000353013:G254V	ENSP00000353013:G254V	G	-	2	0	CLEC14A	37794218	0.384000	0.25164	0.567000	0.28434	0.508000	0.34012	1.151000	0.31651	2.439000	0.82584	0.591000	0.81541	GGC		0.612	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		A	38724467	C	A	38724467	3	1	141	1	0	0	0	0	1	0	0	0	3499	739	26	3	715	3	CLEC14A	14	38724467	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	14062307	38724467	68625073	87	7708											
SPATA7	55812	genome.wustl.edu	37	14	88883125	88883125	+	Silent	SNP	T	T	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr14:88883125T>G	ENST00000393545.4	+	5	598	c.309T>G	c.(307-309)acT>acG	p.T103T	SPATA7_ENST00000556553.1_Silent_p.T71T|SPATA7_ENST00000045347.7_Silent_p.T103T|SPATA7_ENST00000356583.5_Silent_p.T71T	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	103					response to stimulus (GO:0050896)|visual perception (GO:0007601)			p.T103T(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TCAAATTAACTAAAACTGCAA	0.274																																																1	Substitution - coding silent(1)	ovary(1)	14											55	60	59					14																	88883125		2203	4296	6499	87952878	SO:0001819	synonymous_variant	55812			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.309T>G	14.37:g.88883125T>G			87952878	Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Silent	SNP	ENST00000393545.4	37	CCDS9883.1																																																																																				0.274	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			G	88883125	T	G	88883125	2	3	141	1	0	0	0	0	0	0	0	1	15016	1509	53	5		5	SPATA7	14	88883125	Silent	SNP	T	TCGA-13-1497-01A-01W-0549-09	50158658	88883125	18466415	88	7709											
TJP1	7082	genome.wustl.edu	37	15	30012114	30012114	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr15:30012114T>A	ENST00000346128.6	-	20	3344	c.2870A>T	c.(2869-2871)gAg>gTg	p.E957V	TJP1_ENST00000356107.6_Missense_Mutation_p.E957V|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000545208.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	957					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E957V(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGTGGGCTCCTCCAGTCTGAC	0.443																																					Melanoma(77;681 1843 6309 6570)											1	Substitution - Missense(1)	ovary(1)	15											139	133	135					15																	30012114		1908	4117	6025	27799406	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2870A>T	15.37:g.30012114T>A	ENSP00000281537:p.Glu957Val		27799406	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156564	0.57259	.	.	ENSG00000104067	ENST00000346128;ENST00000545208	T	0.08807	3.05	6.17	5.05	0.67936	.	0.051117	0.85682	D	0.000000	T	0.18173	0.0436	L	0.53249	1.67	0.80722	D	1	D;P	0.71674	0.998;0.919	P;B	0.56343	0.796;0.371	T	0.00512	-1.1696	10	0.44086	T	0.13	.	12.3964	0.55386	0.0:0.0652:0.0:0.9348	.	950;957	A9CQZ8;Q07157	.;ZO1_HUMAN	V	957	ENSP00000281537:E957V	ENSP00000281537:E957V	E	-	2	0	TJP1	27799406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.293000	0.65680	1.148000	0.42385	0.533000	0.62120	GAG		0.443	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		A	30012114	T	A	30012114	3	1	141	1	0	0	0	0	1	0	0	0	15929	1551	54	5	2412	5	TJP1	15	30012114	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09		30012114	72519278	89	7710											
TYRO3	7301	genome.wustl.edu	37	15	41870120	41870120	+	Silent	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr15:41870120C>G	ENST00000263798.3	+	19	2543	c.2319C>G	c.(2317-2319)ccC>ccG	p.P773P	TYRO3_ENST00000559066.1_Silent_p.P728P	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P765P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTGCTGACCCCAAGCAGCGCC	0.552																																																1	Substitution - coding silent(1)	ovary(1)	15											48	55	53					15																	41870120		2203	4299	6502	39657412	SO:0001819	synonymous_variant	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2319C>G	15.37:g.41870120C>G			39657412	O14953|Q86VR3	Silent	SNP	ENST00000263798.3	37	CCDS10080.1																																																																																				0.552	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			G	41870120	C	G	41870120	2	3	141	1	0	0	0	0	0	0	0	1	16814	581	21	3		3	TYRO3	15	41870120	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	11858006	41870120	60661272	90	7711											
XYLT1	64131	genome.wustl.edu	37	16	17211515	17211515	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr16:17211515G>C	ENST00000261381.6	-	11	2629	c.2545C>G	c.(2545-2547)Ccc>Gcc	p.P849A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	849					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.P849A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTTTGATGGGCTGCCTGTTC	0.547																																																1	Substitution - Missense(1)	ovary(1)	16											53	49	51					16																	17211515		2197	4300	6497	17119016	SO:0001583	missense	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2545C>G	16.37:g.17211515G>C	ENSP00000261381:p.Pro849Ala		17119016	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436463	0.83885	.	.	ENSG00000103489	ENST00000261381	T	0.04758	3.56	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	M	0.85197	2.74	0.80722	D	1	D	0.54207	0.965	P	0.50136	0.632	T	0.01298	-1.1392	10	0.59425	D	0.04	-33.5183	17.8959	0.88888	0.0:0.0:1.0:0.0	.	849	Q86Y38	XYLT1_HUMAN	A	849	ENSP00000261381:P849A	ENSP00000261381:P849A	P	-	1	0	XYLT1	17119016	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.929000	0.87595	2.515000	0.84797	0.563000	0.77884	CCC		0.547	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		C	17211515	G	C	17211515	3	2	141	1	0	0	0	0	1	0	0	0	17463	1203	42	3	342	3	XYLT1	16	17211515	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09		17211515	73143238	91	7712											
SRCAP	10847	genome.wustl.edu	37	16	30731532	30731532	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr16:30731532C>T	ENST00000262518.4	+	19	3252	c.2867C>T	c.(2866-2868)tCt>tTt	p.S956F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S956F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S956F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	956					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.S956F(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGTCGTGTCTCTCGATATGAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	16											191	191	191					16																	30731532		2197	4300	6497	30639033	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2867C>T	16.37:g.30731532C>T	ENSP00000262518:p.Ser956Phe		30639033	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404059	0.62288	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92805	-3.11;-3.02;-2.98	5.45	5.45	0.79879	.	0.000000	0.51477	D	0.000084	D	0.94338	0.8180	L	0.54323	1.7	0.40786	D	0.983217	D;D;D	0.76494	0.994;0.999;0.998	D;D;D	0.69654	0.965;0.961;0.915	D	0.94849	0.8012	10	0.87932	D	0	-15.367	13.7646	0.62988	0.0:0.8457:0.1543:0.0	.	956;956;956	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	F	956	ENSP00000262518:S956F;ENSP00000378499:S956F;ENSP00000343042:S956F	ENSP00000262518:S956F	S	+	2	0	SRCAP	30639033	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.427000	0.66483	2.569000	0.86673	0.484000	0.47621	TCT		0.537	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30731532	C	T	30731532	3	4	141	1	0	0	0	0	1	0	0	0	15137	913	32	2	2933	2	SRCAP	16	30731532	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	13520017	30731532	59623221	92	7713											
BBS2	583	genome.wustl.edu	37	16	56519549	56519549	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr16:56519549T>C	ENST00000245157.5	-	16	2432	c.2012A>G	c.(2011-2013)aAc>aGc	p.N671S	BBS2_ENST00000568104.1_Missense_Mutation_p.N625S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	671					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.N671S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGCTTTGAGGTTTCCCAACAG	0.383									Bardet-Biedl syndrome																																							1	Substitution - Missense(1)	ovary(1)	16											232	226	228					16																	56519549		2198	4300	6498	55077050	SO:0001583	missense	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.2012A>G	16.37:g.56519549T>C	ENSP00000245157:p.Asn671Ser		55077050	Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	4.983	0.182557	0.09495	.	.	ENSG00000125124	ENST00000245157	D	0.90563	-2.69	5.64	3.41	0.39046	.	0.180588	0.64402	N	0.000014	T	0.79106	0.4390	N	0.16656	0.425	0.37726	D	0.925103	B	0.06786	0.001	B	0.06405	0.002	T	0.67122	-0.5750	10	0.07990	T	0.79	-11.9261	9.0976	0.36649	0.0:0.1525:0.0:0.8475	.	671	Q9BXC9	BBS2_HUMAN	S	671	ENSP00000245157:N671S	ENSP00000245157:N671S	N	-	2	0	BBS2	55077050	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.399000	0.52586	0.440000	0.26502	-0.361000	0.07541	AAC		0.383	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		C	56519549	T	C	56519549	3	2	141	1	0	0	0	0	1	0	0	0	1338	1725	60	4	161	4	BBS2	16	56519549	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09	25788017	56519549	33835204	93	7714											
CTCF	10664	genome.wustl.edu	37	16	67645945	67645945	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr16:67645945G>C	ENST00000264010.4	+	4	1317	c.873G>C	c.(871-873)gaG>gaC	p.E291D	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	291					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E291D(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACACTGATGAGAGACCACACA	0.483																																					Colon(175;1200 1966 6945 23069 27405)											1	Substitution - Missense(1)	ovary(1)	16											144	116	126					16																	67645945		2198	4300	6498	66203446	SO:0001583	missense	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.873G>C	16.37:g.67645945G>C	ENSP00000264010:p.Glu291Asp		66203446	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406721	0.62399	.	.	ENSG00000102974	ENST00000264010	T	0.26810	1.71	5.08	3.0	0.34707	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.43942	0.1270	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.38564	-0.9655	10	0.87932	D	0	.	6.8498	0.24008	0.3331:0.0:0.6669:0.0	.	291	P49711	CTCF_HUMAN	D	291	ENSP00000264010:E291D	ENSP00000264010:E291D	E	+	3	2	CTCF	66203446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.679000	0.46909	1.369000	0.46134	0.655000	0.94253	GAG		0.483	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		C	67645945	G	C	67645945	3	2	141	1	0	0	0	0	1	0	0	0	4000	933	33	3	879	3	CTCF	16	67645945	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	11126396	67645945	22708808	94	7715											
TP53	7157	genome.wustl.edu	37	17	7574030	7574030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	-	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:7574030delG	ENST00000269305.4	-	10	1186	c.997delC	c.(997-999)cgtfs	p.R333fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.R333fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR	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	333	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.R333fs*12(3)|p.I332fs*5(1)|p.?(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)	TCACGCCCACGGATCTGCAGC	0.512		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"	13	Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(1)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|large_intestine(1)|stomach(1)|ovary(1)	17											45	37	40					17																	7574030		2203	4300	6503	7514755	SO:0001589	frameshift_variant	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.997delC	17.37:g.7574030delG	ENSP00000269305:p.Arg333fs		7514755	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7574030	G	-	7574030	7	5	141	1	0	1	0	1	0	0	0	0	16381	1116	39	0	192	0	TP53	17	7574030	Frame_Shift_Del	DEL	G	TCGA-13-1497-01A-01W-0549-09		7574030	73621180	95	7716											
MYH4	4622	genome.wustl.edu	37	17	10357115	10357115	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	G	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:10357115T>G	ENST00000255381.2	-	23	2889	c.2779A>C	c.(2779-2781)Act>Cct	p.T927P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	927					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.T927P(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCTTTCAGTTACCTCTTTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	17											356	327	337					17																	10357115		2203	4300	6503	10297840	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2779A>C	17.37:g.10357115T>G	ENSP00000255381:p.Thr927Pro		10297840		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344087	0.24339	.	.	ENSG00000141048	ENST00000255381	D	0.83419	-1.72	5.43	5.43	0.79202	.	0.000000	0.38492	U	0.001679	D	0.86535	0.5956	M	0.89214	3.015	0.41106	D	0.985708	P	0.41080	0.737	B	0.40228	0.323	D	0.89265	0.3600	10	0.66056	D	0.02	.	15.7669	0.78135	0.0:0.0:0.0:1.0	.	927	Q9Y623	MYH4_HUMAN	P	927	ENSP00000255381:T927P	ENSP00000255381:T927P	T	-	1	0	MYH4	10297840	0.975000	0.34042	0.623000	0.29173	0.192000	0.23643	1.977000	0.40589	2.180000	0.69256	0.533000	0.62120	ACT		0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		G	10357115	T	G	10357115	3	3	141	1	0	0	0	0	1	0	0	0	10037	1725	60	5	3112	5	MYH4	17	10357115	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09	2783085	10357115	70838095	96	7717											
MYH2	4620	genome.wustl.edu	37	17	10441068	10441068	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:10441068G>T	ENST00000245503.5	-	15	1885	c.1501C>A	c.(1501-1503)Cag>Aag	p.Q501K	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q501K|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.Q501K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	501	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q501K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACTCCTCCTGCTCCAGCACG	0.478																																																1	Substitution - Missense(1)	ovary(1)	17											175	148	157					17																	10441068		2203	4300	6503	10381793	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1501C>A	17.37:g.10441068G>T	ENSP00000245503:p.Gln501Lys		10381793	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.386866|5.386866	0.95967|0.95967	.|.	.|.	ENSG00000214970|ENSG00000125414	ENST00000399342|ENST00000532183;ENST00000245503;ENST00000397183	.|T;T;T	.|0.75477	.|-0.94;-0.94;-0.94	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Myosin head, motor domain (2);	.|0.000000	.|0.37483	.|U	.|0.002063	D|D	0.91005|0.91005	0.7171|0.7171	H|H	0.96142|0.96142	3.775|3.775	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B	.|0.46064	.|0.872;0.445	.|D;P	.|0.67103	.|0.949;0.538	D|D	0.93184|0.93184	0.6577|0.6577	6|10	0.87932|0.87932	D|D	0|0	.|.	18.4152|18.4152	0.90567|0.90567	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|501;501	.|Q567P6;Q9UKX2	.|.;MYH2_HUMAN	F|K	47|501	.|ENSP00000433944:Q501K;ENSP00000245503:Q501K;ENSP00000380367:Q501K	ENSP00000382280:C47F|ENSP00000245503:Q501K	C|Q	+|-	2|1	0|0	AC005323.1|MYH2	10381793|10381793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.823000|9.823000	0.99369|0.99369	2.603000|2.603000	0.88011|0.88011	0.655000|0.655000	0.94253|0.94253	TGC|CAG		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10441068	G	T	10441068	3	4	141	1	0	0	0	0	1	0	0	0	10035	1328	46	3	4428	3	MYH2	17	10441068	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	83953	10441068	70754142	97	7718											
ALDH3A2	224	genome.wustl.edu	37	17	19568264	19568264	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:19568264A>G	ENST00000176643.6	+	8	1557	c.1111A>G	c.(1111-1113)Atc>Gtc	p.I371V	SNORA31_ENST00000516540.1_RNA|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.I371V|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.I371V|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.I371V|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.I371V|ALDH3A2_ENST00000571163.1_Missense_Mutation_p.I44V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	371					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)	p.I371V(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TCCTCAGCTCATCAAACGGAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											135	97	110					17																	19568264		2203	4300	6503	19508856	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1111A>G	17.37:g.19568264A>G	ENSP00000176643:p.Ile371Val		19508856	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	A	8.934	0.964232	0.18583	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	T;T;T	0.76839	-1.05;-1.05;-1.05	5.41	2.89	0.33648	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.235594	0.48767	N	0.000161	T	0.60521	0.2275	L	0.28115	0.83	0.52099	D	0.999945	B;B	0.14012	0.008;0.009	B;B	0.21546	0.035;0.01	T	0.49725	-0.8909	10	0.02654	T	1	-11.3227	10.855	0.46794	0.9108:0.0:0.0892:0.0	.	371;371	P51648;P51648-2	AL3A2_HUMAN;.	V	371	ENSP00000176643:I371V;ENSP00000378942:I371V;ENSP00000345774:I371V	ENSP00000176643:I371V	I	+	1	0	ALDH3A2	19508856	0.988000	0.35896	0.997000	0.53966	0.988000	0.76386	2.681000	0.46926	0.238000	0.21222	0.533000	0.62120	ATC		0.517	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			G	19568264	A	G	19568264	3	3	141	1	0	0	0	0	1	0	0	0	498	217	8	4	1141	4	ALDH3A2	17	19568264	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09	9127196	19568264	61626946	98	7719											
CCDC55	84081	genome.wustl.edu	37	17	28512336	28512336	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:28512336G>A	ENST00000247026.5	+	7	1384	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	441					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.E441K(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						agaaaaaCGAGAGGTAGGTGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	17											59	59	59					17																	28512336		2203	4300	6503	25536462	SO:0001583	missense	84081			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1321G>A	17.37:g.28512336G>A	ENSP00000247026:p.Glu441Lys		25536462	Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545468	0.45280	.	.	ENSG00000126653	ENST00000247026;ENST00000540900	T	0.50548	0.74	5.58	5.58	0.84498	.	0.228496	0.35708	N	0.003038	T	0.42449	0.1203	L	0.51422	1.61	0.80722	D	1	B	0.30482	0.281	B	0.27796	0.083	T	0.19811	-1.0294	10	0.25751	T	0.34	-10.1916	15.5125	0.75795	0.0:0.0:1.0:0.0	.	441	Q9H0G5	NSRP1_HUMAN	K	441;372	ENSP00000247026:E441K	ENSP00000247026:E441K	E	+	1	0	NSRP1	25536462	0.738000	0.28186	0.073000	0.20177	0.738000	0.42128	3.087000	0.50167	2.816000	0.96949	0.644000	0.83932	GAG		0.363	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		A	28512336	G	A	28512336	3	1	141	1	0	0	0	0	1	0	0	0	2825	943	33	2	1347	2	CCDC55	17	28512336	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	8944072	28512336	52682874	99	7720											
ATAD5	79915	genome.wustl.edu	37	17	29204471	29204471	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:29204471G>C	ENST00000321990.4	+	16	4200	c.3822G>C	c.(3820-3822)caG>caC	p.Q1274H		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1274					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.Q1274H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAATTACTCAGACTAAATCTA	0.303																																																1	Substitution - Missense(1)	ovary(1)	17											53	57	56					17																	29204471		2203	4298	6501	26228597	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3822G>C	17.37:g.29204471G>C	ENSP00000313171:p.Gln1274His		26228597	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307934	0.23821	.	.	ENSG00000176208	ENST00000321990	T	0.06849	3.25	5.09	-0.0231	0.13945	ATPase, AAA+ type, core (1);	2.948060	0.00890	N	0.002224	T	0.09686	0.0238	L	0.51422	1.61	0.09310	N	1	B	0.19706	0.038	B	0.14578	0.011	T	0.34850	-0.9812	10	0.51188	T	0.08	.	3.9543	0.09383	0.2207:0.0:0.4675:0.3118	.	1274	Q96QE3	ATAD5_HUMAN	H	1274	ENSP00000313171:Q1274H	ENSP00000313171:Q1274H	Q	+	3	2	ATAD5	26228597	0.140000	0.22579	0.040000	0.18447	0.942000	0.58702	0.155000	0.16362	0.215000	0.20761	0.485000	0.47835	CAG		0.303	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		C	29204471	G	C	29204471	3	2	141	1	0	0	0	0	1	0	0	0	1076	933	33	3	3884	3	ATAD5	17	29204471	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	692135	29204471	51990739	100	7721											
ACCN1	40	genome.wustl.edu	37	17	31348302	31348312	+	Frame_Shift_Del	DEL	AATATATCCAG	AATATATCCAG	-			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	AATATATCCAG	AATATATCCAG	AATATATCCAG	-	AATATATCCAG	AATATATCCAG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:31348302_31348312delAATATATCCAG	ENST00000359872.6	-	7	1974_1984	c.1213_1223delCTGGATATATT	c.(1213-1224)ctggatatatttfs	p.LDIF405fs	ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Frame_Shift_Del_p.LDIF456fs	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	405					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.L456fs*2(1)								Amiloride(DB00594)	AGCTTCAAAAAATATATCCAGAACAAGGATG	0.398																																																1	Deletion - Frameshift(1)	ovary(1)	17																																								28372425	SO:0001589	frameshift_variant	40			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1213_1223delCTGGATATATT	17.37:g.31348302_31348312delAATATATCCAG	ENSP00000352934:p.Leu405fs		28372415	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Del	DEL	ENST00000359872.6	37	CCDS42296.1																																																																																				0.398	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		-	31348312	AATATATCCAG	-	31348302	7	5	141	1	0	1	0	1	0	0	0	0	128	14	1	0	331	0	ACCN1	17	31348302	Frame_Shift_Del	DEL	AATATATCCAG	TCGA-13-1497-01A-01W-0549-09	2143831	31348302	49846908	101	7722											
ACLY	47	genome.wustl.edu	37	17	40069998	40069998	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:40069998C>G	ENST00000352035.2	-	2	259	c.129G>C	c.(127-129)ttG>ttC	p.L43F	ACLY_ENST00000393896.2_Missense_Mutation_p.L43F|ACLY_ENST00000537919.1_Missense_Mutation_p.L43F|ACLY_ENST00000353196.1_Missense_Mutation_p.L43F|ACLY_ENST00000590151.1_Missense_Mutation_p.L43F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	43	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.L43F(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGTCCTGCAGCAAGCGGGCCC	0.577																																					Colon(64;807 1396 15971 30971)											1	Substitution - Missense(1)	ovary(1)	17											109	92	98					17																	40069998		2203	4300	6503	37323524	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.129G>C	17.37:g.40069998C>G	ENSP00000253792:p.Leu43Phe		37323524	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745937	0.49151	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.49	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.67569	2.06	0.58432	D	0.999999	D;D;D;D;D	0.65815	0.995;0.989;0.994;0.958;0.989	D;P;P;P;P	0.72982	0.979;0.835;0.835;0.855;0.835	T	0.79852	-0.1628	10	0.56958	D	0.05	.	10.855	0.46794	0.0:0.6254:0.3019:0.0727	.	43;97;97;43;43	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	F	43;97;43;43;43	ENSP00000253792:L43F;ENSP00000345398:L43F;ENSP00000445349:L43F;ENSP00000377474:L43F	ENSP00000253792:L43F	L	-	3	2	ACLY	37323524	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	2.005000	0.40864	0.771000	0.33359	0.563000	0.77884	TTG		0.577	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		G	40069998	C	G	40069998	3	3	141	1	0	0	0	0	1	0	0	0	143	709	25	3	3288	3	ACLY	17	40069998	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	8721696	40069998	41125212	102	7723											
KCNJ16	3773	genome.wustl.edu	37	17	68128366	68128366	+	Silent	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:68128366C>T	ENST00000589377.1	+	2	301	c.138C>T	c.(136-138)taC>taT	p.Y46Y	KCNJ16_ENST00000392670.1_Silent_p.Y46Y|KCNJ16_ENST00000283936.1_Silent_p.Y46Y|KCNJ16_ENST00000585558.1_Silent_p.Y81Y|KCNJ16_ENST00000586462.1_Silent_p.Y85Y|KCNJ16_ENST00000392671.1_Silent_p.Y46Y	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	46					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.Y46Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GTAATGTCTACTTCAAGCACA	0.443																																																1	Substitution - coding silent(1)	ovary(1)	17											237	214	222					17																	68128366		2203	4300	6503	65639961	SO:0001819	synonymous_variant	3773			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.138C>T	17.37:g.68128366C>T			65639961		Silent	SNP	ENST00000589377.1	37	CCDS11687.1																																																																																				0.443	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		T	68128366	C	T	68128366	2	4	141	1	0	0	0	0	0	0	0	1	8050	576	20	2		2	KCNJ16	17	68128366	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	28058368	68128366	13066844	103	7724											
OTOP3	347741	genome.wustl.edu	37	17	72943550	72943550	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:72943550C>T	ENST00000328801.4	+	6	1600	c.1600C>T	c.(1600-1602)Ctc>Ttc	p.L534F		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	534						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.L534F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTCACTCTTCCTCATCCTCTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											23	25	24					17																	72943550		2189	4261	6450	70455145	SO:0001583	missense	347741			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1600C>T	17.37:g.72943550C>T	ENSP00000328090:p.Leu534Phe		70455145		Missense_Mutation	SNP	ENST00000328801.4	37	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054074	0.55218	.	.	ENSG00000182938	ENST00000328801	T	0.53640	0.61	4.44	4.44	0.53790	.	0.000000	0.56097	D	0.000032	T	0.52306	0.1726	M	0.84082	2.675	0.51767	D	0.99993	P	0.36110	0.537	B	0.39935	0.314	T	0.60667	-0.7218	10	0.87932	D	0	-31.0058	8.5845	0.33649	0.0:0.8564:0.0:0.1436	.	534	Q7RTS5	OTOP3_HUMAN	F	534	ENSP00000328090:L534F	ENSP00000328090:L534F	L	+	1	0	OTOP3	70455145	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.442000	0.44873	2.320000	0.78422	0.456000	0.33151	CTC		0.602	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		T	72943550	C	T	72943550	3	4	141	1	0	0	0	0	1	0	0	0	11307	681	24	2	1622	2	OTOP3	17	72943550	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	4815184	72943550	8251660	104	7725											
DNAH17	8632	genome.wustl.edu	37	17	76497305	76497305	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:76497305C>A	ENST00000585328.1	-	35	5553	c.5429G>T	c.(5428-5430)gGc>gTc	p.G1810V	DNAH17_ENST00000389840.5_Missense_Mutation_p.G1801V|DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1801	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G1810V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCGTGTTGCCCAGATACTC	0.577																																																1	Substitution - Missense(1)	ovary(1)	17											101	113	109					17																	76497305		2176	4288	6464	74008900	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5429G>T	17.37:g.76497305C>A	ENSP00000465516:p.Gly1810Val		74008900	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	24.0	4.481682	0.84747	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.17528	2.27	4.24	4.24	0.50183	.	.	.	.	.	T	0.62282	0.2415	H	0.99074	4.42	0.80722	D	1	.	.	.	.	.	.	T	0.81583	-0.0866	7	0.87932	D	0	.	16.995	0.86365	0.0:1.0:0.0:0.0	.	.	.	.	V	1810;1801	ENSP00000374490:G1801V	ENSP00000300671:G1810V	G	-	2	0	DNAH17	74008900	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.567000	0.82357	2.067000	0.61834	0.448000	0.29417	GGC		0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76497305	C	A	76497305	3	1	141	1	0	0	0	0	1	0	0	0	4601	739	26	3	8132	3	DNAH17	17	76497305	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	3553755	76497305	4697905	105	7726											
CCDC57	284001	genome.wustl.edu	37	17	80146286	80146286	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr17:80146286C>G	ENST00000389641.4	-	7	897	c.861G>C	c.(859-861)gaG>gaC	p.E287D	CCDC57_ENST00000392347.1_Missense_Mutation_p.E287D|CCDC57_ENST00000392343.3_Missense_Mutation_p.E287D			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	287								p.E287D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GACGGTCGAGCTCCTCATGCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											41	45	44					17																	80146286		2168	4256	6424	77739575	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.861G>C	17.37:g.80146286C>G	ENSP00000374292:p.Glu287Asp		77739575	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.	.	.	.	.	.	.	.	.	.	C	12.96	2.094828	0.36952	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.35973	2.51;2.51;1.28	5.54	4.58	0.56647	.	0.493655	0.21582	N	0.072224	T	0.48624	0.1510	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.965;0.996	P;P	0.62089	0.724;0.898	T	0.36841	-0.9731	10	0.22109	T	0.4	-15.1752	10.4521	0.44528	0.0:0.91:0.0:0.09	.	287;287	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	D	287	ENSP00000374292:E287D;ENSP00000376158:E287D;ENSP00000376154:E287D	ENSP00000374292:E287D	E	-	3	2	CCDC57	77739575	0.991000	0.36638	0.994000	0.49952	0.911000	0.54048	0.721000	0.25911	1.343000	0.45638	0.650000	0.86243	GAG		0.637	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		G	80146286	C	G	80146286	3	3	141	1	0	0	0	0	1	0	0	0	2827	796	28	3	1930	3	CCDC57	17	80146286	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	3648981	80146286	1048924	106	7727											
MYOM1	8736	genome.wustl.edu	37	18	3102608	3102608	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr18:3102608T>G	ENST00000356443.4	-	23	3772	c.3439A>C	c.(3439-3441)Aat>Cat	p.N1147H	MYOM1_ENST00000261606.7_Missense_Mutation_p.N1051H|MYOM1_ENST00000400569.3_Missense_Mutation_p.N1147H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1147	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.N1147H(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCATCCACATTTACAACAACC	0.398																																																1	Substitution - Missense(1)	ovary(1)	18											133	128	130					18																	3102608		1891	4123	6014	3092608	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3439A>C	18.37:g.3102608T>G	ENSP00000348821:p.Asn1147His		3092608	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.269031	0.40095	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.50001	0.9;0.91;0.76	5.56	0.0991	0.14501	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.542047	0.22253	N	0.062537	T	0.47078	0.1426	L	0.44542	1.39	0.09310	N	1	B;P	0.39116	0.002;0.66	B;P	0.52710	0.002;0.707	T	0.37709	-0.9694	10	0.27082	T	0.32	.	7.2027	0.25889	0.0:0.142:0.3074:0.5506	.	1051;1147	P52179-2;P52179	.;MYOM1_HUMAN	H	1147;1147;1051	ENSP00000348821:N1147H;ENSP00000383413:N1147H;ENSP00000261606:N1051H	ENSP00000261606:N1051H	N	-	1	0	MYOM1	3092608	0.000000	0.05858	0.043000	0.18650	0.935000	0.57460	0.730000	0.26043	0.047000	0.15862	-1.580000	0.00857	AAT		0.398	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		G	3102608	T	G	3102608	3	3	141	1	0	0	0	0	1	0	0	0	10091	1841	64	5	1682	5	MYOM1	18	3102608	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09		3102608	74974640	107	7728											
LRRC30	339291	genome.wustl.edu	37	18	7231563	7231563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr18:7231563G>T	ENST00000383467.2	+	1	441	c.427G>T	c.(427-429)Gag>Tag	p.E143*		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	143								p.E143*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCGAAAGCTGGAGGTCCTGAG	0.572																																																1	Substitution - Nonsense(1)	ovary(1)	18											46	53	51					18																	7231563		2092	4222	6314	7221563	SO:0001587	stop_gained	339291				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.427G>T	18.37:g.7231563G>T	ENSP00000372959:p.Glu143*		7221563		Nonsense_Mutation	SNP	ENST00000383467.2	37	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386415	0.95967	.	.	ENSG00000206422	ENST00000383467	.	.	.	5.65	4.78	0.61160	.	0.044268	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	16.7632	0.85517	0.0:0.1366:0.8634:0.0	.	.	.	.	X	143	.	ENSP00000372959:E143X	E	+	1	0	LRRC30	7221563	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	6.285000	0.72658	1.515000	0.48885	0.650000	0.86243	GAG		0.572	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		T	7231563	G	T	7231563	4	4	141	1	0	0	0	0	0	1	0	0	8985	1175	41	3	429	3	LRRC30	18	7231563	Nonsense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	4128955	7231563	70845685	108	7729											
NPC1	4864	genome.wustl.edu	37	18	21121351	21121351	+	Silent	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr18:21121351C>A	ENST00000269228.5	-	15	2846	c.2292G>T	c.(2290-2292)gcG>gcT	p.A764A	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.A446A	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	764	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.A764A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGCCAATCCCGCAAAGAGAG	0.517																																																1	Substitution - coding silent(1)	ovary(1)	18	GRCh37	CS032703	NPC1	S							93	85	88					18																	21121351		2203	4300	6503	19375349	SO:0001819	synonymous_variant	257641			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2292G>T	18.37:g.21121351C>A			19375349	B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	CCDS11878.1																																																																																				0.517	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		A	21121351	C	A	21121351	2	1	141	1	0	0	0	0	0	0	0	1	10570	639	23	3		3	NPC1	18	21121351	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	13889788	21121351	56955897	109	7730											
LAMA3	3909	genome.wustl.edu	37	18	21447850	21447850	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr18:21447850G>A	ENST00000313654.9	+	37	4977	c.4736G>A	c.(4735-4737)cGg>cAg	p.R1579Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1579Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1579	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R1579Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CGGCCAGACCGGCTGCATCAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	18											143	149	147					18																	21447850		2001	4175	6176	19701848	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4736G>A	18.37:g.21447850G>A	ENSP00000324532:p.Arg1579Gln		19701848	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499225	0.44455	.	.	ENSG00000053747	ENST00000313654;ENST00000399516	T;T	0.35789	1.29;1.29	5.45	3.67	0.42095	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	.	.	.	.	T	0.31857	0.0810	L	0.52126	1.63	0.39080	D	0.960886	P;P	0.46912	0.886;0.6	P;B	0.44477	0.451;0.195	T	0.11641	-1.0579	9	0.12103	T	0.63	.	10.1932	0.43039	0.213:0.0:0.787:0.0	.	1579;1579	Q6VU67;Q16787	.;LAMA3_HUMAN	Q	1579	ENSP00000324532:R1579Q;ENSP00000382432:R1579Q	ENSP00000324532:R1579Q	R	+	2	0	LAMA3	19701848	1.000000	0.71417	0.463000	0.27130	0.777000	0.43975	2.757000	0.47557	0.795000	0.33922	0.655000	0.94253	CGG		0.448	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21447850	G	A	21447850	3	1	141	1	0	0	0	0	1	0	0	0	8607	1116	39	1	4882	1	LAMA3	18	21447850	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	326499	21447850	56629398	110	7731											
CACNA1A	773	genome.wustl.edu	37	19	13419060	13419060	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr19:13419060C>A	ENST00000360228.5	-	14	1786	c.1787G>T	c.(1786-1788)tGg>tTg	p.W596L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.W597L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	597					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.W597L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGAGATGCCCAGTACCTGCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											58	62	61					19																	13419060		2115	4251	6366	13280060	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1787G>T	19.37:g.13419060C>A	ENSP00000353362:p.Trp596Leu		13280060	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900497	0.72754	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98264	-4.83	5.12	5.12	0.69794	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	M	0.74389	2.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.87578	0.998;0.997;0.988	D	0.99191	1.0870	10	0.37606	T	0.19	.	17.3375	0.87286	0.0:1.0:0.0:0.0	.	597;597;596	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	L	596;597;597;597	ENSP00000353362:W596L	ENSP00000317661:W597L	W	-	2	0	CACNA1A	13280060	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.374000	0.81015	0.655000	0.94253	TGG		0.577	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13419060	C	A	13419060	3	1	141	1	0	0	0	0	1	0	0	0	2538	595	21	3	5980	3	CACNA1A	19	13419060	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09		13419060	45709923	111	7732											
CCDC105	126402	genome.wustl.edu	37	19	15133816	15133816	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr19:15133816G>A	ENST00000292574.3	+	7	1467	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	462						extracellular vesicular exosome (GO:0070062)		p.R462H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AACGTGGTGCGCCTGCGCCTG	0.672																																																1	Substitution - Missense(1)	ovary(1)	19											38	29	32					19																	15133816		2201	4300	6501	14994816	SO:0001583	missense	126402			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1385G>A	19.37:g.15133816G>A	ENSP00000292574:p.Arg462His		14994816	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.245127	0.79912	.	.	ENSG00000160994	ENST00000292574	T	0.02498	4.27	4.12	4.12	0.48240	.	0.000000	0.56097	D	0.000025	T	0.12050	0.0293	M	0.67953	2.075	0.35608	D	0.808459	D	0.89917	1.0	D	0.87578	0.998	T	0.03296	-1.1051	10	0.54805	T	0.06	-23.6425	12.1024	0.53792	0.0:0.0:1.0:0.0	.	462	Q8IYK2	CC105_HUMAN	H	462	ENSP00000292574:R462H	ENSP00000292574:R462H	R	+	2	0	CCDC105	14994816	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.774000	0.55341	2.295000	0.77249	0.479000	0.44913	CGC		0.672	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15133816	G	A	15133816	3	1	141	1	0	0	0	0	1	0	0	0	2740	1087	38	1	1411	1	CCDC105	19	15133816	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	1714756	15133816	43995167	112	7733											
CYP4F3	4051	genome.wustl.edu	37	19	15760867	15760867	+	Silent	SNP	C	C	T	rs142562355		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr19:15760867C>T	ENST00000221307.8	+	7	839	c.792C>T	c.(790-792)caC>caT	p.H264H	CYP4F3_ENST00000585846.1_Silent_p.H264H|CYP4F3_ENST00000591058.1_Silent_p.H264H|CYP4F3_ENST00000586182.2_Silent_p.H264H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	264					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.H264H(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCCTGGTGCACGACTTCACAG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	19						C	,,	2,4404		0,2,2201	114	106	109		792,792,792	-5.2	0	19	dbSNP_134	109	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	,,	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	,,	264/521,264/521,264/521	15760867	2,13000	2203	4298	6501	15621867	SO:0001819	synonymous_variant	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.792C>T	19.37:g.15760867C>T			15621867	B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	CCDS12332.1																																																																																				0.562	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		T	15760867	C	T	15760867	2	4	141	1	0	0	0	0	0	0	0	1	4190	535	19	1		1	CYP4F3	19	15760867	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	627051	15760867	43368116	113	7734											
SUPT5H	6829	genome.wustl.edu	37	19	39959910	39959910	+	Missense_Mutation	SNP	C	C	T	rs370618161		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr19:39959910C>T	ENST00000599117.1	+	17	1613	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	SUPT5H_ENST00000359191.6_Missense_Mutation_p.R412W|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R412W|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R416W|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R416W			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	416	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R416W(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGAAGGAGCGGGAGCACAA	0.607																																																1	Substitution - Missense(1)	ovary(1)	19						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	70	62	65		1246,1246,1234,1246	4.8	1	19		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SUPT5H	NM_001111020.2,NM_001130824.1,NM_001130825.1,NM_003169.3	101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	416/1088,416/1088,412/1084,416/1088	39959910	1,13005	2203	4300	6503	44651750	SO:0001583	missense	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1246C>T	19.37:g.39959910C>T	ENSP00000470252:p.Arg416Trp		44651750	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487950	0.84854	0.0	1.16E-4	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.82	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.42245	1.32	0.58432	D	0.999999	D;D;D	0.76494	0.989;0.999;0.998	P;D;P	0.67103	0.776;0.949;0.889	T	0.64647	-0.6358	8	.	.	.	-5.3195	12.9725	0.58520	0.2941:0.7059:0.0:0.0	.	208;412;416	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	W	416;412;394;416	.	.	R	+	1	2	SUPT5H	44651750	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.943000	0.49026	1.444000	0.47605	0.650000	0.86243	CGG		0.607	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		T	39959910	C	T	39959910	3	4	141	1	0	0	0	0	1	0	0	0	15399	759	27	1	1304	1	SUPT5H	19	39959910	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	24199043	39959910	19169073	114	7735											
ANGPT4	51378	genome.wustl.edu	37	20	858888	858888	+	Missense_Mutation	SNP	C	C	T	rs201791557		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr20:858888C>T	ENST00000381922.3	-	7	1238	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R379H	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	379	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R379H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCTCCACACGCAGAGAGTA	0.612																																					Pancreas(181;481 2077 3259 31286 49856)											1	Substitution - Missense(1)	ovary(1)	20						C	HIS/ARG	0,4406		0,0,2203	63	52	55		1136	5.5	1	20		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANGPT4	NM_015985.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	379/504	858888	1,13005	2203	4300	6503	806888	SO:0001583	missense	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1136G>A	20.37:g.858888C>T	ENSP00000371347:p.Arg379His		806888	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078938	0.94050	0.0	1.16E-4	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.80909	-1.43;-1.43	5.5	5.5	0.81552	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.61697	0.99;0.99	P;P	0.54060	0.741;0.659	D	0.86003	0.1496	10	0.48119	T	0.1	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	379;379	B4E3J9;Q9Y264	.;ANGP4_HUMAN	H	379	ENSP00000371347:R379H;ENSP00000439605:R379H	ENSP00000371347:R379H	R	-	2	0	ANGPT4	806888	0.998000	0.40836	0.972000	0.41901	0.979000	0.70002	4.740000	0.62087	2.861000	0.98227	0.655000	0.94253	CGT		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		T	858888	C	T	858888	3	4	141	1	0	0	0	0	1	0	0	0	612	536	19	1	387	1	ANGPT4	20	858888	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09		858888	62166632	115	7736											
NCOA6	23054	genome.wustl.edu	37	20	33330093	33330093	+	Missense_Mutation	SNP	G	G	A	rs181662709		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr20:33330093G>A	ENST00000374796.2	-	12	6537	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W	NCOA6_ENST00000359003.2_Missense_Mutation_p.R1323W			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1323					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.R1323W(2)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGACTTGCCCGTTTTGTTGCT	0.453																																																2	Substitution - Missense(2)	ovary(2)	20											139	138	138					20																	33330093		2203	4300	6503	32793754	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3967C>T	20.37:g.33330093G>A	ENSP00000363929:p.Arg1323Trp		32793754	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.30	3.084708	0.55861	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.31510	1.49;1.49	5.98	5.02	0.67125	.	0.000000	0.64402	D	0.000007	T	0.45438	0.1342	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.46775	-0.9167	10	0.87932	D	0	-14.3735	14.9392	0.70980	0.0:0.0:0.7266:0.2734	.	1323	Q14686	NCOA6_HUMAN	W	1323	ENSP00000363929:R1323W;ENSP00000351894:R1323W	ENSP00000351894:R1323W	R	-	1	2	NCOA6	32793754	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.918000	0.48829	1.503000	0.48686	0.591000	0.81541	CGG		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		A	33330093	G	A	33330093	3	1	141	1	0	0	0	0	1	0	0	0	10233	1144	40	1	2244	1	NCOA6	20	33330093	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	32471205	33330093	29695427	116	7737											
IFT52	51098	genome.wustl.edu	37	20	42264597	42264597	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr20:42264597C>G	ENST00000373030.3	+	11	1085	c.955C>G	c.(955-957)Cca>Gca	p.P319A	IFT52_ENST00000373039.4_Missense_Mutation_p.P319A	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	319					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.P319A(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAAACATGAACCACTCCAGCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	20											118	105	109					20																	42264597		2203	4300	6503	41698011	SO:0001583	missense	51098			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.955C>G	20.37:g.42264597C>G	ENSP00000362121:p.Pro319Ala		41698011	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392376	0.42410	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.53	5.53	0.82687	.	0.155526	0.64402	N	0.000015	T	0.62307	0.2417	M	0.75264	2.295	0.51482	D	0.999929	B	0.20052	0.041	B	0.17979	0.02	T	0.58994	-0.7537	9	0.38643	T	0.18	-12.6457	13.5649	0.61813	0.1559:0.8441:0.0:0.0	.	319	Q9Y366	IFT52_HUMAN	A	319	.	ENSP00000362121:P319A	P	+	1	0	IFT52	41698011	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.697000	0.54764	2.770000	0.95276	0.650000	0.86243	CCA		0.522	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		G	42264597	C	G	42264597	3	3	141	1	0	0	0	0	1	0	0	0	7561	507	18	3	993	3	IFT52	20	42264597	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	8934504	42264597	20760923	117	7738											
RIMS4	140730	genome.wustl.edu	37	20	43400046	43400046	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr20:43400046G>A	ENST00000372851.3	-	2	172	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R37W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	36					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.R36W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TTCAGCCTCCGGCTGTCCCCT	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											55	55	55					20																	43400046		2203	4300	6503	42833460	SO:0001583	missense	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.106C>T	20.37:g.43400046G>A	ENSP00000361942:p.Arg36Trp		42833460	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948065	0.73787	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.25912	1.83;1.77	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	P;D	0.63793	0.881;0.918	T	0.33929	-0.9849	10	0.87932	D	0	.	13.1683	0.59583	0.0:0.0:0.8396:0.1604	.	37;36	E1P613;Q9H426	.;RIMS4_HUMAN	W	36;37	ENSP00000361942:R36W;ENSP00000439287:R37W	ENSP00000361942:R36W	R	-	1	2	RIMS4	42833460	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.390000	0.52523	2.148000	0.66965	0.551000	0.68910	CGG		0.622	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		A	43400046	G	A	43400046	3	1	141	1	0	0	0	0	1	0	0	0	13373	1115	39	1	723	1	RIMS4	20	43400046	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	1135449	43400046	19625474	118	7739											
WFDC10B	280664	genome.wustl.edu	37	20	44313569	44313569	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr20:44313569A>G	ENST00000330523.5	-	4	352	c.122T>C	c.(121-123)aTa>aCa	p.I41T	WFDC10B_ENST00000335769.2_Missense_Mutation_p.I57T	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	41	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)	p.I41T(1)		lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				GCATAGATCTATGCTGGGTCG	0.438																																																1	Substitution - Missense(1)	ovary(1)	20											135	114	121					20																	44313569		2203	4300	6503	43746983	SO:0001583	missense	280664			AF454506	CCDS13365.1, CCDS13366.1	20q13.12	2013-01-21			ENSG00000182931	ENSG00000182931		"WAP four-disulfide core domain containing"	20479	protein-coding gene	gene with protein product						12206714	Standard	NM_172006		Approved	WAP12	uc002xpb.3	Q8IUB3	OTTHUMG00000130227	ENST00000330523.5:c.122T>C	20.37:g.44313569A>G	ENSP00000327628:p.Ile41Thr		43746983	A6PVD7|Q0VAG0|Q0VAG1|Q5TGZ5|Q8IUB4	Missense_Mutation	SNP	ENST00000330523.5	37	CCDS13366.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.793194	0.31685	.	.	ENSG00000182931	ENST00000330523;ENST00000335769	T;T	0.21734	1.99;1.99	3.75	-1.87	0.07737	Whey acidic protein, 4-disulphide core (1);	.	.	.	.	T	0.10465	0.0256	.	.	.	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.11329	0.006;0.006	T	0.34129	-0.9841	8	0.26408	T	0.33	.	4.4326	0.11535	0.3979:0.1936:0.4084:0.0	.	57;41	Q8IUB3-2;Q8IUB3	.;WF10B_HUMAN	T	41;57	ENSP00000327628:I41T;ENSP00000337466:I57T	ENSP00000327628:I41T	I	-	2	0	WFDC10B	43746983	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-0.208000	0.09371	-0.373000	0.07979	0.379000	0.24179	ATA		0.438	WFDC10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252547.1			G	44313569	A	G	44313569	3	3	141	1	0	0	0	0	1	0	0	0	17348	449	16	4	103	4	WFDC10B	20	44313569	Missense_Mutation	SNP	A	TCGA-13-1497-01A-01W-0549-09	913523	44313569	18711951	119	7740											
SAMSN1	64092	genome.wustl.edu	37	21	15870796	15870796	+	Silent	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr21:15870796G>A	ENST00000400566.1	-	7	967	c.886C>T	c.(886-888)Cta>Tta	p.L296L	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Silent_p.L128L|SAMSN1_ENST00000285670.2_Silent_p.L364L	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	296	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.L296L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GCAGCTGATAGTAACCTTCTT	0.333																																																1	Substitution - coding silent(1)	ovary(1)	21											110	99	103					21																	15870796		1815	4074	5889	14792667	SO:0001819	synonymous_variant	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.886C>T	21.37:g.15870796G>A			14792667	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	ENST00000400566.1	37	CCDS42906.1																																																																																				0.333	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			A	15870796	G	A	15870796	2	1	141	1	0	0	0	0	0	0	0	1	13833	1020	36	2		2	SAMSN1	21	15870796	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09		15870796	32259099	120	7741											
RNF160	26046	genome.wustl.edu	37	21	30358518	30358518	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr21:30358518G>A	ENST00000361371.5	-	3	366	c.287C>T	c.(286-288)aCa>aTa	p.T96I	LTN1_ENST00000389195.2_Missense_Mutation_p.T142I|LTN1_ENST00000389194.2_Missense_Mutation_p.T142I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	96					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T96I(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CACAGTTTCTGTGTCTCTCTC	0.308																																																1	Substitution - Missense(1)	ovary(1)	21											62	63	62					21																	30358518		2202	4298	6500	29280389	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.287C>T	21.37:g.30358518G>A	ENSP00000354977:p.Thr96Ile		29280389	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	14.99	2.699741	0.48307	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66460	3.56;3.56;-0.21	4.2	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.154150	0.41396	D	0.000889	T	0.52386	0.1731	L	0.29908	0.895	0.39876	D	0.973573	B	0.24823	0.112	B	0.25140	0.058	T	0.53479	-0.8433	10	0.37606	T	0.19	.	10.403	0.44241	0.0896:0.0:0.9104:0.0	.	96	O94822	LTN1_HUMAN	I	142;96;98;142	ENSP00000373846:T142I;ENSP00000354977:T96I;ENSP00000373847:T142I	ENSP00000354977:T96I	T	-	2	0	LTN1	29280389	0.632000	0.27172	1.000000	0.80357	0.989000	0.77384	3.491000	0.53252	2.190000	0.69967	0.467000	0.42956	ACA		0.308	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		A	30358518	G	A	30358518	3	1	141	1	0	0	0	0	1	0	0	0	13458	1377	48	2	5125	2	RNF160	21	30358518	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09	14487722	30358518	17771377	121	7742											
SYNJ1	8867	genome.wustl.edu	37	21	34058111	34058111	+	Silent	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr21:34058111G>C	ENST00000322229.7	-	8	1064	c.1065C>G	c.(1063-1065)gtC>gtG	p.V355V	SYNJ1_ENST00000382491.3_Silent_p.V355V|SYNJ1_ENST00000382499.2_Silent_p.V394V|SYNJ1_ENST00000357345.3_Silent_p.V355V|SYNJ1_ENST00000433931.2_Silent_p.V394V			O43426	SYNJ1_HUMAN	synaptojanin 1	355	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.V355V(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GAAACTTCTGGACTTGAGGTT	0.333																																																1	Substitution - coding silent(1)	ovary(1)	21											111	106	107					21																	34058111		2202	4300	6502	32979982	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1065C>G	21.37:g.34058111G>C			32979982	O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1																																																																																				0.333	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				C	34058111	G	C	34058111	2	2	141	1	0	0	0	0	0	0	0	1	15452	1161	41	3		3	SYNJ1	21	34058111	Silent	SNP	G	TCGA-13-1497-01A-01W-0549-09	3699593	34058111	14071784	122	7743											
SEZ6L	23544	genome.wustl.edu	37	22	26706763	26706763	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr22:26706763C>A	ENST00000248933.6	+	7	1737	c.1642C>A	c.(1642-1644)Cag>Aag	p.Q548K	SEZ6L_ENST00000403121.1_Missense_Mutation_p.Q321K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.Q548K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.Q548K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.Q548K|SEZ6L_ENST00000529632.2_Missense_Mutation_p.Q548K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Q321K			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	548	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.Q548K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACGTCCGACCAGGCCCGGGC	0.602																																																1	Substitution - Missense(1)	ovary(1)	22											103	90	94					22																	26706763		2203	4300	6503	25036763	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1642C>A	22.37:g.26706763C>A	ENSP00000248933:p.Gln548Lys		25036763	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	7.035	0.561341	0.13498	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.04	2.79	0.32731	CUB (5);	0.228496	0.28624	N	0.014681	T	0.11281	0.0275	N	0.10972	0.075	0.58432	D	0.999998	P;B;P;P;P;B;B	0.36789	0.515;0.367;0.507;0.57;0.57;0.367;0.367	B;B;B;B;B;B;B	0.40825	0.248;0.338;0.257;0.341;0.341;0.338;0.338	T	0.24941	-1.0146	10	0.23302	T	0.38	.	14.7557	0.69564	0.0:0.5663:0.4337:0.0	.	548;548;321;548;548;548;548	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	K	548;548;548;548;548;321;321	ENSP00000384772:Q548K;ENSP00000437037:Q548K;ENSP00000354185:Q548K;ENSP00000248933:Q548K;ENSP00000342661:Q548K;ENSP00000384838:Q321K;ENSP00000384733:Q321K	ENSP00000248933:Q548K	Q	+	1	0	SEZ6L	25036763	1.000000	0.71417	0.009000	0.14445	0.031000	0.12232	1.431000	0.34925	1.248000	0.43934	-0.304000	0.09214	CAG		0.602	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26706763	C	A	26706763	3	1	141	1	0	0	0	0	1	0	0	0	14146	595	21	3	1668	3	SEZ6L	22	26706763	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09		26706763	24597803	123	7744											
DMC1	11144	genome.wustl.edu	37	22	38964241	38964241	+	Silent	SNP	C	C	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chr22:38964241C>T	ENST00000216024.2	-	2	297	c.21G>A	c.(19-21)gtG>gtA	p.V7V	DMC1_ENST00000428462.2_Silent_p.V7V|DMC1_ENST00000464842.1_5'Flank	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	7					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.V7V(1)		large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GTTCTTCCGCCACAACTTGAT	0.368								Homologous recombination																																								1	Substitution - coding silent(1)	ovary(1)	22											98	96	96					22																	38964241		2203	4300	6503	37294187	SO:0001819	synonymous_variant	11144			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.21G>A	22.37:g.38964241C>T			37294187	A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	CCDS13973.1																																																																																				0.368	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		T	38964241	C	T	38964241	2	4	141	1	0	0	0	0	0	0	0	1	4579	581	21	2		2	DMC1	22	38964241	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	12257478	38964241	12340325	124	7745											
SHROOM2	357	genome.wustl.edu	37	X	9900271	9900271	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:9900271G>C	ENST00000380913.3	+	6	3038	c.2948G>C	c.(2947-2949)aGt>aCt	p.S983T	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	983					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.S983T(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CACCCACCGAGTCAGAAGGCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	X											112	95	101					X																	9900271		2203	4300	6503	9860271	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2948G>C	X.37:g.9900271G>C	ENSP00000370299:p.Ser983Thr		9860271	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	g	1.744	-0.490895	0.04322	.	.	ENSG00000146950	ENST00000380913	T	0.14391	2.51	3.11	-3.05	0.05396	.	7739.210000	0.00166	N	0.000000	T	0.11367	0.0277	L	0.36672	1.1	0.09310	N	0.999999	B	0.25105	0.118	B	0.21151	0.033	T	0.29458	-1.0011	10	0.14656	T	0.56	.	10.1791	0.42957	0.8578:0.0:0.1422:0.0	.	983	Q13796	SHRM2_HUMAN	T	983	ENSP00000370299:S983T	ENSP00000370299:S983T	S	+	2	0	SHROOM2	9860271	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.132000	0.15891	-0.684000	0.05183	-0.203000	0.12734	AGT		0.577	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		C	9900271	G	C	9900271	3	2	141	1	0	0	0	0	1	0	0	0	14297	1029	36	3	2970	3	SHROOM2	23	9900271	Missense_Mutation	SNP	G	TCGA-13-1497-01A-01W-0549-09		9900271	145370289	125	7746											
GRPR	2925	genome.wustl.edu	37	X	16168719	16168719	+	Silent	SNP	A	A	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:16168719A>G	ENST00000380289.2	+	2	1103	c.705A>G	c.(703-705)aaA>aaG	p.K235K	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	235					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.K235K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCATTGCTAAAAATCTGATCC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	X											120	102	108					X																	16168719		2203	4300	6503	16078640	SO:0001819	synonymous_variant	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.705A>G	X.37:g.16168719A>G			16078640	B2R910	Silent	SNP	ENST00000380289.2	37	CCDS14174.1																																																																																				0.423	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		G	16168719	A	G	16168719	2	3	141	1	0	0	0	0	0	0	0	1	6808	11	1	4		4	GRPR	23	16168719	Silent	SNP	A	TCGA-13-1497-01A-01W-0549-09	6268448	16168719	139101841	126	7747											
DMD	1756	genome.wustl.edu	37	X	32382762	32382762	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:32382762C>G	ENST00000357033.4	-	36	5297	c.5091G>C	c.(5089-5091)caG>caC	p.Q1697H	DMD_ENST00000378677.2_Missense_Mutation_p.Q1693H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1697	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q1692H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTGTGTCAGCCTGAATGATCC	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											245	197	213					X																	32382762		2202	4300	6502	32292683	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5091G>C	X.37:g.32382762C>G	ENSP00000354923:p.Gln1697His		32292683	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054698	0.36277	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35421	1.31;1.31	5.38	-3.93	0.04143	.	0.608291	0.12498	N	0.463628	T	0.15305	0.0369	N	0.14661	0.345	0.46203	D	0.998927	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.0;0.005;0.001;0.001;0.001	T	0.07597	-1.0764	10	0.51188	T	0.08	.	1.5183	0.02510	0.3832:0.2499:0.081:0.2859	.	1689;1697;1693;356;353	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	H	1689;356;353;1693;1697;1697;1574	ENSP00000367948:Q1693H;ENSP00000354923:Q1697H	ENSP00000354923:Q1697H	Q	-	3	2	DMD	32292683	0.701000	0.27806	0.941000	0.38009	0.993000	0.82548	-0.105000	0.10907	-0.665000	0.05317	0.538000	0.68166	CAG		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	32382762	C	G	32382762	3	3	141	1	0	0	0	0	1	0	0	0	4580	680	24	3	6290	3	DMD	23	32382762	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	16214043	32382762	122887798	127	7748											
ZNF182	7569	genome.wustl.edu	37	X	47836155	47836155	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:47836155T>C	ENST00000396965.1	-	7	1681	c.1331A>G	c.(1330-1332)aAc>aGc	p.N444S	ZNF182_ENST00000376943.3_Missense_Mutation_p.N425S|ZNF182_ENST00000305127.6_Missense_Mutation_p.N444S	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	444					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.N444S(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TACACCAAGGTTTGACTTTTG	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											68	61	64					X																	47836155		2203	4300	6503	47721099	SO:0001583	missense	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1331A>G	X.37:g.47836155T>C	ENSP00000380165:p.Asn444Ser		47721099	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	T	5.261	0.233592	0.09969	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.03272	3.99;3.99;3.99	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	N	0.25060	0.705	0.09310	N	1	B;B;P	0.39181	0.013;0.038;0.663	B;B;B	0.33339	0.011;0.011;0.162	T	0.20075	-1.0286	9	0.05351	T	0.99	.	10.8788	0.46927	0.0:0.0:0.0:1.0	.	424;425;444	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	S	425;444;444	ENSP00000366142:N425S;ENSP00000380165:N444S;ENSP00000306351:N444S	ENSP00000306351:N444S	N	-	2	0	ZNF182	47721099	0.000000	0.05858	0.999000	0.59377	0.992000	0.81027	0.088000	0.14979	1.768000	0.52137	0.441000	0.28932	AAC		0.418	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		C	47836155	T	C	47836155	3	2	141	1	0	0	0	0	1	0	0	0	17750	1725	60	4	592	4	ZNF182	23	47836155	Missense_Mutation	SNP	T	TCGA-13-1497-01A-01W-0549-09	15453393	47836155	107434405	128	7749											
PAGE2	203569	genome.wustl.edu	37	X	55117043	55117043	+	Splice_Site	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:55117043G>T	ENST00000374968.4	+	3	297	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	PAGE2_ENST00000374965.1_Intron	NM_207339.2	NP_997222.1	Q7Z2X7	PAGE2_HUMAN	P antigen family, member 2 (prostate associated)	65								p.G65W(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						TGCTTTTCAAGGTGAAGGGAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	X											69	58	62					X																	55117043		2169	4288	6457	55133768	SO:0001630	splice_region_variant	203569			BC054022	CCDS14367.1	Xp11.22	2009-06-17			ENSG00000234068	ENSG00000234068			31804	protein-coding gene	gene with protein product		300738	"G antigen, family C, 2"	GAGEC2		9724777	Standard	NM_207339		Approved	MGC62094, PAGE-2, CT16.4		Q7Z2X7	OTTHUMG00000021648	ENST00000374968.4:c.193+1G>T	X.37:g.55117043G>T			55133768	Q5JRK7|Q5JRK8	Missense_Mutation	SNP	ENST00000374968.4	37	CCDS14367.1	.	.	.	.	.	.	.	.	.	.	g	10.14	1.268260	0.23136	.	.	ENSG00000234068	ENST00000374968	T	0.13307	2.6	0.921	0.921	0.19403	.	.	.	.	.	T	0.32556	0.0833	M	0.81802	2.56	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.06006	-1.0851	9	0.66056	D	0.02	.	4.885	0.13699	0.0:0.0:1.0:0.0	.	65	Q7Z2X7	GGEE2_HUMAN	W	65	ENSP00000364107:G65W	ENSP00000364107:G65W	G	+	1	0	PAGE2	55133768	0.277000	0.24220	0.006000	0.13384	0.017000	0.09413	1.469000	0.35343	0.736000	0.32559	0.181000	0.17075	GGG		0.433	PAGE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056857.1	NM_207339	Missense_Mutation	T	55117043	G	T	55117043	5	4	141	1	0	0	0	0	0	0	1	0	11390	1014	35	3	199	3	PAGE2	23	55117043	Splice_Site	SNP	G	TCGA-13-1497-01A-01W-0549-09	7280888	55117043	100153517	129	7750											
HEPH	9843	genome.wustl.edu	37	X	65417598	65417598	+	Silent	SNP	C	C	T	rs374611265		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:65417598C>T	ENST00000343002.2	+	9	2239	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	HEPH_ENST00000374727.3_Silent_p.A528A|HEPH_ENST00000336279.5_Silent_p.A258A|HEPH_ENST00000519389.1_Silent_p.A579A|HEPH_ENST00000441993.2_Silent_p.A528A|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	525	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.A525A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCCTCATGCCGGTCCCACTG	0.532																																																1	Substitution - coding silent(1)	ovary(1)	X						C	,,	0,3835		0,0,1632,571	75	62	67		1584,774,1737	-2.3	0.5	X		67	2,6726		0,2,2426,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	HEPH	NM_001130860.2,NM_014799.2,NM_138737.3	,,	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	,,	528/1161,258/892,579/1213	65417598	2,10561	2203	4300	6503	65334323	SO:0001819	synonymous_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1575C>T	X.37:g.65417598C>T			65334323	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37																																																																																					0.532	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65417598	C	T	65417598	2	4	141	1	0	0	0	0	0	0	0	1	7054	639	23	1		1	HEPH	23	65417598	Silent	SNP	C	TCGA-13-1497-01A-01W-0549-09	10300555	65417598	89852962	130	7751											
DACH2	117154	genome.wustl.edu	37	X	86071103	86071103	+	Splice_Site	SNP	G	G	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:86071103G>T	ENST00000373125.4	+	11	1750		c.e11+1		DACH2_ENST00000373131.1_Splice_Site|DACH2_ENST00000508860.1_Splice_Site|DACH2_ENST00000510272.1_Splice_Site	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2						development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCTATGCAAGGTACAGTCAAC	0.398																																																2	Unknown(2)	ovary(2)	X											78	71	73					X																	86071103		2203	4300	6503	85957759	SO:0001630	splice_region_variant	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1750+1G>T	X.37:g.86071103G>T			85957759	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Splice_Site	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129430	0.37630	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1479	0.86771	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DACH2	85957759	1.000000	0.71417	0.996000	0.52242	0.257000	0.26127	5.205000	0.65186	1.970000	0.57323	0.513000	0.50165	.		0.398	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	Intron	T	86071103	G	T	86071103	5	4	141	1	0	0	0	0	0	0	1	0	4221	1275	44	3	1793	3	DACH2	23	86071103	Splice_Site	SNP	G	TCGA-13-1497-01A-01W-0549-09	20653505	86071103	69199457	131	7752											
COL4A6	1288	genome.wustl.edu	37	X	107404858	107404858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:107404858C>A	ENST00000372216.4	-	42	4427	c.4327G>T	c.(4327-4329)Gga>Tga	p.G1443*	COL4A6_ENST00000545689.1_Nonsense_Mutation_p.G1418*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.G1442*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.G1385*|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000394872.2_Nonsense_Mutation_p.G1443*	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1443	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G1442*(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTCAAATCCTGGAGGGCCT	0.602									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - Nonsense(1)	ovary(1)	X											31	35	34					X																	107404858		2202	4296	6498	107291514	SO:0001587	stop_gained	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4327G>T	X.37:g.107404858C>A	ENSP00000361290:p.Gly1443*		107291514	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Nonsense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	45	11.619214	0.99583	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	5.13	5.13	0.70059	.	0.000000	0.38217	N	0.001776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2684	0.90060	0.0:1.0:0.0:0.0	.	.	.	.	X	1443;1442;1443;1430;1418;1385	.	ENSP00000334733:G1442X	G	-	1	0	COL4A6	107291514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.049000	0.76613	2.447000	0.82792	0.600000	0.82982	GGA		0.602	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			A	107404858	C	A	107404858	4	1	141	1	0	0	0	0	0	1	0	0	3695	690	24	3	764	3	COL4A6	23	107404858	Nonsense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	21333755	107404858	47865702	132	7753											
CAPN6	827	genome.wustl.edu	37	X	110495619	110495619	+	Silent	SNP	A	A	T			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:110495619A>T	ENST00000324068.1	-	5	782	c.615T>A	c.(613-615)acT>acA	p.T205T	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	205	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.T205T(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CAACAAGCTCAGTGTATCTTC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	X											173	123	140					X																	110495619		2203	4300	6503	110382275	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.615T>A	X.37:g.110495619A>T			110382275	D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	CCDS14555.1																																																																																				0.433	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			T	110495619	A	T	110495619	2	4	141	1	0	0	0	0	0	0	0	1	2630	175	7	5		5	CAPN6	23	110495619	Silent	SNP	A	TCGA-13-1497-01A-01W-0549-09	3090761	110495619	44774941	133	7754											
GABRA3	2556	genome.wustl.edu	37	X	151336921	151336921	+	Missense_Mutation	SNP	C	C	T	rs202150301		TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:151336921C>T	ENST00000370314.4	-	10	1496	c.1258G>A	c.(1258-1260)Gct>Act	p.A420T	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.A420T	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	420					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|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.A420T(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|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)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGGGAGCAGCGCCCTTGGAG	0.552																																					NSCLC(142;2578 2613 10251 16743)											2	Substitution - Missense(2)	ovary(1)|lung(1)	X											301	243	263					X																	151336921		2203	4300	6503	151087577	SO:0001583	missense	2556				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1258G>A	X.37:g.151336921C>T	ENSP00000359337:p.Ala420Thr		151087577	Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420034	0.42918	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82081	-1.57;-1.57;-1.57	4.71	3.85	0.44370	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.518559	0.21905	N	0.067399	T	0.73156	0.3551	N	0.13098	0.295	0.52501	D	0.999952	D	0.58268	0.982	P	0.50109	0.631	T	0.66795	-0.5833	10	0.15952	T	0.53	.	10.2929	0.43608	0.0:0.8981:0.0:0.1019	.	420	P34903	GBRA3_HUMAN	T	420	ENSP00000359337:A420T;ENSP00000359334:A420T;ENSP00000443527:A420T	ENSP00000359334:A420T	A	-	1	0	GABRA3	151087577	1.000000	0.71417	0.311000	0.25182	0.876000	0.50452	5.844000	0.69430	0.903000	0.36546	-0.195000	0.12781	GCT		0.552	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		T	151336921	C	T	151336921	3	4	141	1	0	0	0	0	1	0	0	0	6162	768	27	1	224	1	GABRA3	23	151336921	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	40841302	151336921	3933639	134	7755											
F8	2157	genome.wustl.edu	37	X	154090037	154090037	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1497-01A-01W-0549-09	TCGA-13-1497-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	04e814c6-ea28-4ade-bc8f-a618552943da	a85e2881-3685-486b-8c14-2b540dd5b1ee	g.chrX:154090037C>G	ENST00000360256.4	-	24	6879	c.6679G>C	c.(6679-6681)Gct>Cct	p.A2227P	F8_ENST00000330287.6_Missense_Mutation_p.A92P	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2227	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.A2227P(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGAAGTCGAGCTTTTGAAGGA	0.453																																																2	Substitution - Missense(2)	ovary(2)	X											222	204	210					X																	154090037		2203	4300	6503	153743231	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6679G>C	X.37:g.154090037C>G	ENSP00000353393:p.Ala2227Pro		153743231	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.372531	0.82573	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98585	-5.01;-5.01	5.6	5.6	0.85130	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	M	0.93241	3.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99215	1.0877	10	0.87932	D	0	-15.2089	15.8026	0.78468	0.0:1.0:0.0:0.0	.	2227;92	P00451;Q14286	FA8_HUMAN;.	P	92;2227	ENSP00000327895:A92P;ENSP00000353393:A2227P	ENSP00000327895:A92P	A	-	1	0	F8	153743231	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.047000	0.57383	2.329000	0.79093	0.600000	0.82982	GCT		0.453	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			G	154090037	C	G	154090037	3	3	141	1	0	0	0	0	1	0	0	0	5350	797	28	3	388	3	F8	23	154090037	Missense_Mutation	SNP	C	TCGA-13-1497-01A-01W-0549-09	2753116	154090037	1180523	135	7756											
TAS1R2	80834	genome.wustl.edu	37	1	19166493	19166493	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:19166493C>T	ENST00000375371.3	-	6	2141	c.2120G>A	c.(2119-2121)cGt>cAt	p.R707H		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	707					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.R707H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGGTCAGTACGGGTGGTGGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											128	135	133					1																	19166493		2203	4300	6503	19039080	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2120G>A	1.37:g.19166493C>T	ENSP00000364520:p.Arg707His		19039080	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617457	0.14129	.	.	ENSG00000179002	ENST00000375371	D	0.88664	-2.41	4.94	0.504	0.16946	GPCR, family 3, C-terminal (2);	0.155508	0.29707	N	0.011419	T	0.79805	0.4509	L	0.35288	1.05	0.09310	N	0.999999	B	0.21520	0.057	B	0.22601	0.04	T	0.68838	-0.5303	10	0.59425	D	0.04	.	5.422	0.16405	0.2923:0.5531:0.0:0.1546	.	707	Q8TE23	TS1R2_HUMAN	H	707	ENSP00000364520:R707H	ENSP00000364520:R707H	R	-	2	0	TAS1R2	19039080	0.000000	0.05858	0.133000	0.22050	0.119000	0.20118	0.205000	0.17356	0.095000	0.17434	0.561000	0.74099	CGT		0.557	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19166493	C	T	19166493	3	4	142	1	0	0	0	0	1	0	0	0	15563	536	19	1	403	1	TAS1R2	1	19166493	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09		19166493	230084128	1	7757											
NBL1	4681	genome.wustl.edu	37	1	19981859	19981859	+	Silent	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:19981859C>T	ENST00000375136.3	+	3	516	c.213C>T	c.(211-213)acC>acT	p.T71T	NBL1_ENST00000289749.2_Silent_p.T106T|MINOS1-NBL1_ENST00000602662.1_Silent_p.T71T|NBL1_ENST00000548815.1_Silent_p.T70T	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	71	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)	p.T70T(1)		lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAACACCTTCCCACAGT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	1											218	153	175					1																	19981859		2203	4300	6503	19854446	SO:0001819	synonymous_variant	4681				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"neuroblastoma candidate region, suppression of tumorigenicity 1", "neuroblastoma suppressor of tumorigenicity 1", "differential screening-selected gene aberrant in neuroblastoma"	600613	"neuroblastoma, suppression of tumorigenicity 1"			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.213C>T	1.37:g.19981859C>T			19854446	A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Silent	SNP	ENST00000375136.3	37	CCDS196.2																																																																																				0.612	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007681.4	NM_005380		T	19981859	C	T	19981859	2	4	142	1	0	0	0	0	0	0	0	1	10190	668	24	2		2	NBL1	1	19981859	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	815366	19981859	229268762	2	7758											
PTCH2	8643	genome.wustl.edu	37	1	45297700	45297700	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:45297700T>A	ENST00000372192.3	-	4	602	c.472A>T	c.(472-474)Aaa>Taa	p.K158*	PTCH2_ENST00000447098.2_Nonsense_Mutation_p.K158*	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	158					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.K158*(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TAGCAGATTTTGTTCAAATCC	0.522									Basal Cell Nevus syndrome																																							1	Substitution - Nonsense(1)	ovary(1)	1											85	89	88					1																	45297700		2203	4300	6503	45070287	SO:0001587	stop_gained	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.472A>T	1.37:g.45297700T>A	ENSP00000361266:p.Lys158*		45070287	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Nonsense_Mutation	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	T	31	5.096764	0.94197	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	.	.	.	4.52	4.52	0.55395	.	0.000000	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-20.4993	12.9626	0.58466	0.0:0.0:0.0:1.0	.	.	.	.	X	158	.	ENSP00000361266:K158X	K	-	1	0	PTCH2	45070287	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.431000	0.59915	1.898000	0.54952	0.459000	0.35465	AAA		0.522	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		A	45297700	T	A	45297700	4	1	142	1	0	0	0	0	0	1	0	0	12734	1821	63	5	3235	5	PTCH2	1	45297700	Nonsense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	25315841	45297700	203952921	3	7759											
MAST2	23139	genome.wustl.edu	37	1	46491441	46491441	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:46491441T>A	ENST00000361297.2	+	16	2156	c.1873T>A	c.(1873-1875)Tac>Aac	p.Y625N	MAST2_ENST00000372009.2_Missense_Mutation_p.Y555N	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.Y625N(2)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCCCTGGAGTACTTACACAA	0.547																																																2	Substitution - Missense(2)	ovary(2)	1											160	165	163					1																	46491441		2201	4300	6501	46264028	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1873T>A	1.37:g.46491441T>A	ENSP00000354671:p.Tyr625Asn		46264028		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839921	0.91117	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.75154	-0.91;-0.91;-0.91	5.06	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062606	0.64402	D	0.000003	D	0.88396	0.6425	M	0.90483	3.12	0.80722	D	1	D;D;D;D	0.89917	0.997;0.998;1.0;1.0	D;D;D;D	0.91635	0.991;0.989;0.999;0.999	D	0.90956	0.4809	10	0.87932	D	0	-15.2255	15.1319	0.72530	0.0:0.0:0.0:1.0	.	555;299;555;625	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	N	625;555;299;510	ENSP00000354671:Y625N;ENSP00000361079:Y555N;ENSP00000361078:Y510N	ENSP00000354671:Y625N	Y	+	1	0	MAST2	46264028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.028000	0.59812	0.533000	0.62120	TAC		0.547	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		A	46491441	T	A	46491441	3	1	142	1	0	0	0	0	1	0	0	0	9325	1638	57	5	1935	5	MAST2	1	46491441	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	1193741	46491441	202759180	4	7760											
LRRIQ3	127255	genome.wustl.edu	37	1	74506970	74506970	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	A	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:74506970T>A	ENST00000395089.1	-	6	1644	c.1645A>T	c.(1645-1647)Agc>Tgc	p.S549C	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.S549C			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	549								p.S549C(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACAATCAGGCTTTTCTCTTTT	0.308																																																1	Substitution - Missense(1)	ovary(1)	1											74	70	71					1																	74506970		1799	4062	5861	74279558	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1645A>T	1.37:g.74506970T>A	ENSP00000378524:p.Ser549Cys		74279558	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383985	0.42308	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.09445	2.98;2.98	5.86	-7.02	0.01589	.	.	.	.	.	T	0.02494	0.0076	N	0.24115	0.695	0.09310	N	1	D	0.59357	0.985	B	0.43103	0.408	T	0.15150	-1.0447	9	0.59425	D	0.04	.	12.033	0.53408	0.1435:0.0:0.601:0.2555	.	549	A6PVS8	LRIQ3_HUMAN	C	549	ENSP00000378524:S549C;ENSP00000346414:S549C	ENSP00000346414:S549C	S	-	1	0	LRRIQ3	74279558	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.217000	0.02979	-1.506000	0.01805	0.528000	0.53228	AGC		0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		A	74506970	T	A	74506970	3	1	142	1	0	0	0	0	1	0	0	0	9030	1609	56	5	237	5	LRRIQ3	1	74506970	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	28015529	74506970	174743651	5	7761											
COL24A1	255631	genome.wustl.edu	37	1	86524812	86524812	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:86524812C>A	ENST00000370571.2	-	9	2164	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	COL24A1_ENST00000436319.1_Missense_Mutation_p.G600C	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	600	Collagen-like 2.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G600C(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACCTGCCTGCCAGGGTAACCG	0.323																																																1	Substitution - Missense(1)	ovary(1)	1											51	48	49					1																	86524812		1829	4121	5950	86297400	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1798G>T	1.37:g.86524812C>A	ENSP00000359603:p.Gly600Cys		86297400	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923260	0.52653	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99369	-5.78;-5.78	5.68	5.68	0.88126	.	0.183995	0.26662	N	0.023143	D	0.99687	0.9882	H	0.96916	3.905	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97744	1.0210	10	0.87932	D	0	.	17.5819	0.87971	0.0:1.0:0.0:0.0	.	600;600	F8WDM8;Q17RW2	.;COOA1_HUMAN	C	600	ENSP00000359603:G600C;ENSP00000392531:G600C	ENSP00000359603:G600C	G	-	1	0	COL24A1	86297400	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.856000	0.69518	2.677000	0.91161	0.563000	0.77884	GGC		0.323	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		A	86524812	C	A	86524812	3	1	142	1	0	0	0	0	1	0	0	0	3683	594	21	3	3554	3	COL24A1	1	86524812	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	12017842	86524812	162725809	6	7762											
REG4	83998	genome.wustl.edu	37	1	120337249	120337249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:120337249G>A	ENST00000354219.1	-	7	908	c.469C>T	c.(469-471)Cga>Tga	p.R157*	REG4_ENST00000256585.5_Nonsense_Mutation_p.R157*|REG4_ENST00000530654.1_3'UTR	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	157						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)	p.R157R(1)|p.R157*(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CTCTATGGTCGGTACTTGCAC	0.428																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	1											265	258	261					1																	120337249		2203	4300	6503	120138772	SO:0001587	stop_gained	83998			AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"regenerating gene type IV", " gastrointestinal secretory protein"	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.469C>T	1.37:g.120337249G>A	ENSP00000346158:p.Arg157*		120138772	Q8NER6|Q8NER7	Nonsense_Mutation	SNP	ENST00000354219.1	37	CCDS906.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313976	0.60414	.	.	ENSG00000134193	ENST00000354219;ENST00000256585	.	.	.	4.92	-2.08	0.07254	.	1.071720	0.07439	N	0.896965	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	0.3763	5.325	0.15901	0.1701:0.0:0.2603:0.5696	.	.	.	.	X	157	.	ENSP00000256585:R157X	R	-	1	2	REG4	120138772	0.082000	0.21442	0.001000	0.08648	0.003000	0.03518	0.240000	0.18042	-0.584000	0.05913	-0.923000	0.02734	CGA		0.428	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		A	120337249	G	A	120337249	4	1	142	1	0	0	0	0	0	1	0	0	13217	1124	39	1	11	1	REG4	1	120337249	Nonsense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	33812437	120337249	128913372	7	7763											
BCL9	607	genome.wustl.edu	37	1	147092631	147092631	+	Silent	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:147092631G>T	ENST00000234739.3	+	8	3410	c.2670G>T	c.(2668-2670)tcG>tcT	p.S890S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	890	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.S890S(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGACTCCATCGCAGCTGGCAG	0.617			T	"IGH@, IGL@"	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	1	Substitution - coding silent(1)	ovary(1)	1											76	78	77					1																	147092631		2203	4300	6503	145559255	SO:0001819	synonymous_variant	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2670G>T	1.37:g.147092631G>T			145559255	Q5T489	Silent	SNP	ENST00000234739.3	37	CCDS30833.1																																																																																				0.617	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		T	147092631	G	T	147092631	2	4	142	1	0	0	0	0	0	0	0	1	1381	1074	38	3		3	BCL9	1	147092631	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	26755382	147092631	102157990	8	7764											
RFX5	5993	genome.wustl.edu	37	1	151314685	151314685	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:151314685C>T	ENST00000290524.4	-	11	2006	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	RFX5_ENST00000452671.2_Missense_Mutation_p.D610N|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Missense_Mutation_p.D570N|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Missense_Mutation_p.D610N	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	610					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D610N(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTTTTGGGTCTTTATGCTCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											141	132	135					1																	151314685		2203	4300	6503	149581309	SO:0001583	missense	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1828G>A	1.37:g.151314685C>T	ENSP00000290524:p.Asp610Asn		149581309	B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458628	0.84317	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.37	5.37	0.77165	.	0.127880	0.50627	D	0.000118	T	0.58293	0.2112	M	0.64997	1.995	0.37149	D	0.902065	D;D	0.89917	1.0;0.996	D;P	0.80764	0.994;0.906	T	0.60161	-0.7317	10	0.56958	D	0.05	-19.4471	14.4852	0.67611	0.0:1.0:0.0:0.0	.	570;610	B7Z848;P48382	.;RFX5_HUMAN	N	610;610;610;570	ENSP00000290524:D610N;ENSP00000357864:D610N;ENSP00000389130:D610N;ENSP00000398388:D570N	ENSP00000290524:D610N	D	-	1	0	RFX5	149581309	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.144000	0.42197	2.806000	0.96561	0.591000	0.81541	GAC		0.463	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		T	151314685	C	T	151314685	3	4	142	1	0	0	0	0	1	0	0	0	13269	913	32	2	26	2	RFX5	1	151314685	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	4222054	151314685	97935936	9	7765											
NPR1	4881	genome.wustl.edu	37	1	153659678	153659678	+	Silent	SNP	C	C	A	rs369711085		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:153659678C>A	ENST00000368680.3	+	13	2410	c.1938C>A	c.(1936-1938)ggC>ggA	p.G646G		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.G646G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATTTCCAGGGCATGCTGTTTC	0.547																																					Pancreas(141;1349 1870 15144 15830 40702)											1	Substitution - coding silent(1)	ovary(1)	1											131	117	122					1																	153659678		2203	4300	6503	151926302	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1938C>A	1.37:g.153659678C>A			151926302	B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	CCDS1051.1																																																																																				0.547	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		A	153659678	C	A	153659678	2	1	142	1	0	0	0	0	0	0	0	1	10594	697	25	3		3	NPR1	1	153659678	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	2344993	153659678	95590943	10	7766											
NTRK1	4914	genome.wustl.edu	37	1	156849010	156849010	+	Silent	SNP	C	C	T	rs148270992		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:156849010C>T	ENST00000524377.1	+	15	1943	c.1902C>T	c.(1900-1902)gtC>gtT	p.V634V	NTRK1_ENST00000358660.3_Silent_p.V631V|NTRK1_ENST00000392302.2_Silent_p.V598V|NTRK1_ENST00000368196.3_Silent_p.V628V	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	634	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V634V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTAGCCAGGTCGCTGCGGGGA	0.647			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	1	Substitution - coding silent(1)	ovary(1)	1						C	,,	1,4405	2.1+/-5.4	0,1,2202	34	33	33		1794,1884,1902	-6.6	0.6	1	dbSNP_134	33	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	598/761,628/791,634/797	156849010	1,13005	2203	4300	6503	155115634	SO:0001819	synonymous_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1902C>T	1.37:g.156849010C>T			155115634	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	CCDS1161.1																																																																																				0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		T	156849010	C	T	156849010	2	4	142	1	0	0	0	0	0	0	0	1	10706	871	31	1		1	NTRK1	1	156849010	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	3189332	156849010	92401611	11	7767											
KIRREL	55243	genome.wustl.edu	37	1	158061246	158061246	+	Silent	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:158061246C>T	ENST00000359209.6	+	11	1438	c.1371C>T	c.(1369-1371)acC>acT	p.T457T	KIRREL_ENST00000360089.4_Silent_p.T293T|KIRREL_ENST00000416935.2_Silent_p.T357T|KIRREL_ENST00000392272.2_Silent_p.T354T|KIRREL_ENST00000368172.1_Silent_p.T271T|KIRREL_ENST00000368173.3_Silent_p.T473T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	457	Ig-like C2-type 5.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.T293T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCACGCTCACCATCAACAATG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	1											158	138	145					1																	158061246		2203	4300	6503	156327870	SO:0001819	synonymous_variant	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1371C>T	1.37:g.158061246C>T			156327870	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	CCDS1172.2																																																																																				0.577	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		T	158061246	C	T	158061246	2	4	142	1	0	0	0	0	0	0	0	1	8324	581	21	2		2	KIRREL	1	158061246	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	1212236	158061246	91189375	12	7768											
CD1B	910	genome.wustl.edu	37	1	158299162	158299162	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:158299162C>A	ENST00000368168.3	-	4	991	c.884G>T	c.(883-885)tGg>tTg	p.W295L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	295	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.W295L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTTCTTACTCCAGTAGAGGAT	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											56	57	57					1																	158299162		2203	4300	6503	156565786	SO:0001583	missense	910			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.884G>T	1.37:g.158299162C>A	ENSP00000357150:p.Trp295Leu		156565786	Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698551	0.30142	.	.	ENSG00000158485	ENST00000368168	T	0.13778	2.56	4.26	3.33	0.38152	MHC class I-like antigen recognition (1);	0.204806	0.24886	N	0.034813	T	0.22322	0.0538	H	0.96365	3.81	0.36075	D	0.842387	D	0.58970	0.984	P	0.47744	0.556	T	0.36089	-0.9762	10	0.87932	D	0	-5.9007	9.4821	0.38906	0.2116:0.7884:0.0:0.0	.	295	P29016	CD1B_HUMAN	L	295	ENSP00000357150:W295L	ENSP00000357150:W295L	W	-	2	0	CD1B	156565786	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	3.174000	0.50847	1.119000	0.41883	-0.181000	0.13052	TGG		0.552	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		A	158299162	C	A	158299162	3	1	142	1	0	0	0	0	1	0	0	0	2975	595	21	3	129	3	CD1B	1	158299162	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	237916	158299162	90951459	13	7769											
C1orf226	400793	genome.wustl.edu	37	1	162353375	162353375	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:162353375C>G	ENST00000458626.2	+	2	893	c.721C>G	c.(721-723)Ctg>Gtg	p.L241V	C1orf226_ENST00000426197.2_Missense_Mutation_p.L284V	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	241								p.L284V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CCCCATCAGCCTGGCTGAGTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											24	27	26					1																	162353375		2008	4162	6170	160619999	SO:0001583	missense	400793			AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.721C>G	1.37:g.162353375C>G	ENSP00000437071:p.Leu241Val		160619999	B4DF31	Missense_Mutation	SNP	ENST00000458626.2	37	CCDS53422.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918266	0.73098	.	.	ENSG00000239887	ENST00000426197;ENST00000458626	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	T	0.27241	0.0668	L	0.29908	0.895	.	.	.	P;P	0.42518	0.782;0.782	B;B	0.34652	0.187;0.187	T	0.10917	-1.0609	6	.	.	.	-3.0993	18.4629	0.90746	0.0:1.0:0.0:0.0	.	284;241	A1L170-2;A1L170	.;CA226_HUMAN	V	284;241	.	.	L	+	1	2	C1orf226	160619999	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	3.819000	0.55686	2.708000	0.92522	0.655000	0.94253	CTG		0.592	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076793.2	NM_001085375		G	162353375	C	G	162353375	3	3	142	1	0	0	0	0	1	0	0	0	2032	680	24	3	860	3	C1orf226	1	162353375	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	4054213	162353375	86897246	14	7770											
TEDDM1	127670	genome.wustl.edu	37	1	182369354	182369354	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:182369354C>G	ENST00000367565.1	-	1	397	c.267G>C	c.(265-267)aaG>aaC	p.K89N		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	89						integral component of membrane (GO:0016021)		p.K89N(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						GCAGCACATTCTTGCTCATGA	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											169	159	162					1																	182369354		2203	4300	6503	180635977	SO:0001583	missense	127670			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.267G>C	1.37:g.182369354C>G	ENSP00000356536:p.Lys89Asn		180635977	Q8IVJ0	Missense_Mutation	SNP	ENST00000367565.1	37	CCDS30953.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612252	0.28712	.	.	ENSG00000203730	ENST00000367565	T	0.46819	0.86	5.26	4.36	0.52297	.	0.493751	0.19757	N	0.106753	T	0.36771	0.0979	L	0.52573	1.65	0.33401	D	0.577317	P	0.44627	0.839	B	0.36134	0.218	T	0.49643	-0.8918	10	0.18276	T	0.48	-20.2773	11.6981	0.51554	0.0:0.9149:0.0:0.0851	.	89	Q5T9Z0	TEDM1_HUMAN	N	89	ENSP00000356536:K89N	ENSP00000356536:K89N	K	-	3	2	TEDDM1	180635977	0.951000	0.32395	0.988000	0.46212	0.035000	0.12851	0.934000	0.28910	1.451000	0.47736	0.655000	0.94253	AAG		0.502	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		G	182369354	C	G	182369354	3	3	142	1	0	0	0	0	1	0	0	0	15749	912	32	3	558	3	TEDDM1	1	182369354	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	20015979	182369354	66881267	15	7771											
NR5A2	2494	genome.wustl.edu	37	1	200089981	200089981	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:200089981A>C	ENST00000367362.3	+	7	1522	c.1276A>C	c.(1276-1278)Aac>Cac	p.N426H	NR5A2_ENST00000236914.3_Missense_Mutation_p.N380H|NR5A2_ENST00000544748.1_Missense_Mutation_p.N354H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	426					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.N426H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CACCCTCAACAACCTCATGAG	0.413																																					Melanoma(179;1138 2773 15678 26136)											1	Substitution - Missense(1)	ovary(1)	1											178	149	159					1																	200089981		2203	4300	6503	198356604	SO:0001583	missense	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1276A>C	1.37:g.200089981A>C	ENSP00000356331:p.Asn426His		198356604	B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013604	0.75161	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.96619	-4.07;-4.07;-4.07	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.121727	0.85682	D	0.000000	D	0.95059	0.8400	L	0.38531	1.155	0.58432	D	0.999999	P;B	0.47350	0.894;0.251	P;B	0.49226	0.603;0.389	D	0.94305	0.7540	9	.	.	.	.	16.3625	0.83273	1.0:0.0:0.0:0.0	.	380;426	F1D8R9;O00482	.;NR5A2_HUMAN	H	426;380;354	ENSP00000356331:N426H;ENSP00000236914:N380H;ENSP00000439116:N354H	.	N	+	1	0	NR5A2	198356604	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.237000	0.78164	2.319000	0.78375	0.524000	0.50904	AAC		0.413	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			C	200089981	A	C	200089981	3	2	142	1	0	0	0	0	1	0	0	0	10636	130	5	5	1302	5	NR5A2	1	200089981	Missense_Mutation	SNP	A	TCGA-13-1498-01A-01W-0549-09	17720627	200089981	49160640	16	7772											
CACNA1S	779	genome.wustl.edu	37	1	201060858	201060858	+	Silent	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:201060858G>A	ENST00000362061.3	-	5	830	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	CACNA1S_ENST00000367338.3_Silent_p.L202L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	202					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L202L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGAGGACCAGCAGGGCGATG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	1											92	75	81					1																	201060858		2203	4300	6503	199327481	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.604C>T	1.37:g.201060858G>A			199327481	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.562	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201060858	G	A	201060858	2	1	142	1	0	0	0	0	0	0	0	1	2547	962	34	2		2	CACNA1S	1	201060858	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	970877	201060858	48189763	17	7773											
RYR2	6262	genome.wustl.edu	37	1	237965198	237965198	+	Silent	SNP	A	A	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:237965198A>T	ENST00000366574.2	+	98	14450	c.14133A>T	c.(14131-14133)ggA>ggT	p.G4711G	RYR2_ENST00000542537.1_Silent_p.G4695G|RYR2_ENST00000360064.6_Silent_p.G4717G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4711					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G4709G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAACTAGGAGTCGTTTTCA	0.388																																																1	Substitution - coding silent(1)	ovary(1)	1											108	100	103					1																	237965198		1872	4120	5992	236031821	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14133A>T	1.37:g.237965198A>T			236031821	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237965198	A	T	237965198	2	4	142	1	0	0	0	0	0	0	0	1	13772	291	11	5		5	RYR2	1	237965198	Silent	SNP	A	TCGA-13-1498-01A-01W-0549-09	36904340	237965198	11285423	18	7774											
ADSS	159	genome.wustl.edu	37	1	244587341	244587341	+	Silent	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr1:244587341G>T	ENST00000366535.3	-	6	811	c.495C>A	c.(493-495)ggC>ggA	p.G165G	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.G165G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CTGGGCCAATGCCCTTTTTTG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	1											59	56	57					1																	244587341		2203	4300	6503	242653964	SO:0001819	synonymous_variant	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.495C>A	1.37:g.244587341G>T			242653964		Silent	SNP	ENST00000366535.3	37	CCDS1624.1																																																																																				0.423	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		T	244587341	G	T	244587341	2	4	142	1	0	0	0	0	0	0	0	1	347	1306	46	3		3	ADSS	1	244587341	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	6622143	244587341	4663280	19	7775											
HAAO	23498	genome.wustl.edu	37	2	42994629	42994629	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr2:42994629G>A	ENST00000294973.6	-	10	864	c.809C>T	c.(808-810)tCt>tTt	p.S270F		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase									p.S270F(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CAGGGCCACAGAGCCTTGTGT	0.617																																																1	Substitution - Missense(1)	ovary(1)	2											56	50	52					2																	42994629		2203	4300	6503	42848133	SO:0001583	missense	23498			Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.809C>T	2.37:g.42994629G>A	ENSP00000294973:p.Ser270Phe		42848133		Missense_Mutation	SNP	ENST00000294973.6	37	CCDS33187.1	.	.	.	.	.	.	.	.	.	.	g	14.52	2.558969	0.45590	.	.	ENSG00000162882	ENST00000294973	T	0.32023	1.47	4.83	3.93	0.45458	Cupin, RmlC-type (1);	0.228496	0.37530	N	0.002053	T	0.46698	0.1406	M	0.63843	1.955	0.24963	N	0.991715	D	0.76494	0.999	D	0.65140	0.932	T	0.26985	-1.0087	10	0.66056	D	0.02	.	9.7005	0.40184	0.0:0.2807:0.7193:0.0	.	270	P46952	3HAO_HUMAN	F	270	ENSP00000294973:S270F	ENSP00000294973:S270F	S	-	2	0	HAAO	42848133	0.229000	0.23729	0.970000	0.41538	0.995000	0.86356	1.011000	0.29911	2.252000	0.74401	0.550000	0.68814	TCT		0.617	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			A	42994629	G	A	42994629	3	1	142	1	0	0	0	0	1	0	0	0	6937	942	33	2	55	2	HAAO	2	42994629	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09		42994629	200204744	20	7776											
KDM3A	55818	genome.wustl.edu	37	2	86709168	86709168	+	Silent	SNP	C	C	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr2:86709168C>G	ENST00000409556.1	+	18	2993	c.2628C>G	c.(2626-2628)ccC>ccG	p.P876P	KDM3A_ENST00000542128.1_Silent_p.P824P|KDM3A_ENST00000312912.5_Silent_p.P876P|KDM3A_ENST00000409064.1_Silent_p.P876P			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	876					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P876P(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TTTTGACACCCGTAAGCAACA	0.393																																					NSCLC(96;1150 1523 6936 46253 49736)											3	Substitution - coding silent(3)	lung(2)|ovary(1)	2											151	143	146					2																	86709168		2203	4300	6503	86562679	SO:0001819	synonymous_variant	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2628C>G	2.37:g.86709168C>G			86562679	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	CCDS1990.1																																																																																				0.393	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		G	86709168	C	G	86709168	2	3	142	1	0	0	0	0	0	0	0	1	8126	639	23	3		3	KDM3A	2	86709168	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	43714539	86709168	156490205	21	7777											
NCKAP5	344148	genome.wustl.edu	37	2	133541439	133541439	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr2:133541439A>T	ENST00000409261.1	-	14	3318	c.2945T>A	c.(2944-2946)aTt>aAt	p.I982N	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.I982N|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	982										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATTAGAAGAAATAACTGGAGC	0.517																																																0			2											29	32	31					2																	133541439		1883	4109	5992	133257909	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2945T>A	2.37:g.133541439A>T	ENSP00000387128:p.Ile982Asn		133257909	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	A	5.526	0.282046	0.10458	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11495	2.77;2.77	4.49	0.433	0.16534	.	0.190844	0.24693	U	0.036362	T	0.08133	0.0203	L	0.29908	0.895	0.09310	N	1	P	0.49090	0.919	P	0.46718	0.525	T	0.27706	-1.0066	10	0.27785	T	0.31	.	4.7229	0.12927	0.659:0.1582:0.1828:0.0	.	982	O14513	NCKP5_HUMAN	N	982	ENSP00000387128:I982N;ENSP00000380603:I982N	ENSP00000380603:I982N	I	-	2	0	NCKAP5	133257909	0.131000	0.22433	0.000000	0.03702	0.001000	0.01503	0.674000	0.25218	-0.057000	0.13199	-0.417000	0.06048	ATT		0.517	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		T	133541439	A	T	133541439	3	4	142	1	0	0	0	0	1	0	0	0	10223	101	4	5	2812	5	NCKAP5	2	133541439	Missense_Mutation	SNP	A	TCGA-13-1498-01A-01W-0549-09	46832271	133541439	109657934	22	7778											
RIF1	55183	genome.wustl.edu	37	2	152319991	152319991	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr2:152319991A>C	ENST00000243326.5	+	29	4440	c.3957A>C	c.(3955-3957)gaA>gaC	p.E1319D	RIF1_ENST00000444746.2_Missense_Mutation_p.E1319D|RIF1_ENST00000453091.2_Missense_Mutation_p.E1319D|RIF1_ENST00000428287.2_Missense_Mutation_p.E1319D|RIF1_ENST00000430328.2_Missense_Mutation_p.E1319D			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.E1319D(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATCTGTTGAAGGCATTGTAG	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											77	84	82					2																	152319991		2203	4300	6503	152028237	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3957A>C	2.37:g.152319991A>C	ENSP00000243326:p.Glu1319Asp		152028237	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.523288	0.00967	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	4.55	0.842	0.18927	.	0.331776	0.27302	N	0.019995	T	0.01695	0.0054	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39187	-0.9626	10	0.11485	T	0.65	-3.3916	0.6966	0.00900	0.2425:0.1146:0.2822:0.3608	.	1319;1319	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	D	1319	ENSP00000390181:E1319D;ENSP00000414615:E1319D;ENSP00000415691:E1319D;ENSP00000243326:E1319D;ENSP00000416123:E1319D	ENSP00000243326:E1319D	E	+	3	2	RIF1	152028237	0.946000	0.32159	0.034000	0.17996	0.179000	0.23085	1.475000	0.35409	0.000000	0.14550	-0.379000	0.06801	GAA		0.408	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			C	152319991	A	C	152319991	3	2	142	1	0	0	0	0	1	0	0	0	13362	69	3	5	4071	5	RIF1	2	152319991	Missense_Mutation	SNP	A	TCGA-13-1498-01A-01W-0549-09	18778552	152319991	90879382	23	7779											
FRZB	2487	genome.wustl.edu	37	2	183703158	183703158	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr2:183703158T>C	ENST00000295113.4	-	4	1385	c.776A>G	c.(775-777)tAt>tGt	p.Y259C		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	259	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Y259C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CTCATCTTCATAGCCCATGAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											102	98	99					2																	183703158		2203	4300	6503	183411403	SO:0001583	missense	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.776A>G	2.37:g.183703158T>C	ENSP00000295113:p.Tyr259Cys		183411403	O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377499	0.82682	.	.	ENSG00000162998	ENST00000295113	T	0.22134	1.97	5.39	5.39	0.77823	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.115902	0.64402	D	0.000010	T	0.43919	0.1269	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38415	-0.9662	10	0.87932	D	0	.	15.4385	0.75165	0.0:0.0:0.0:1.0	.	259	Q92765	SFRP3_HUMAN	C	259	ENSP00000295113:Y259C	ENSP00000295113:Y259C	Y	-	2	0	FRZB	183411403	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.986000	0.88173	2.041000	0.60428	0.455000	0.32223	TAT		0.418	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		C	183703158	T	C	183703158	3	2	142	1	0	0	0	0	1	0	0	0	6065	1406	49	4	213	4	FRZB	2	183703158	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	31383167	183703158	59496215	24	7780											
HECW2	57520	genome.wustl.edu	37	2	197184552	197184552	+	Silent	SNP	G	G	A	rs141702751	byFrequency	TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr2:197184552G>A	ENST00000260983.3	-	9	1244	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	HECW2_ENST00000409111.1_De_novo_Start_OutOfFrame	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	354					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D354D(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCATGTCCTCGTCATCGGAAG	0.507													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		19969	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2						G		1,4405	2.1+/-5.4	0,1,2202	84	73	76		1062	-3.6	0.9	2	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HECW2	NM_020760.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		354/1573	197184552	2,13004	2203	4300	6503	196892797	SO:0001819	synonymous_variant	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1062C>T	2.37:g.197184552G>A			196892797	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.507	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		A	197184552	G	A	197184552	2	1	142	1	0	0	0	0	0	0	0	1	7043	1136	40	1		1	HECW2	2	197184552	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	13481394	197184552	46014821	25	7781											
RPL15	6138	genome.wustl.edu	37	3	23960900	23960900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr3:23960900G>T	ENST00000307839.5	+	4	1162	c.523G>T	c.(523-525)Gga>Tga	p.G175*	NKIRAS1_ENST00000443659.2_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank|NKIRAS1_ENST00000388759.3_5'Flank|RPL15_ENST00000435882.1_Nonsense_Mutation_p.G175*|RPL15_ENST00000354811.5_Nonsense_Mutation_p.G175*|RPL15_ENST00000456530.2_Intron|RPL15_ENST00000415719.1_Nonsense_Mutation_p.G175*|NKIRAS1_ENST00000415901.2_5'Flank|RPL15_ENST00000413699.1_Nonsense_Mutation_p.G175*|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000425478.2_5'Flank	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	175					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.G175*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CCGTGGCCTTGGAAAGGGCCA	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	3											20	21	21					3																	23960900		2186	4295	6481	23935904	SO:0001587	stop_gained	6138			AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"L ribosomal proteins"	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.523G>T	3.37:g.23960900G>T	ENSP00000309334:p.Gly175*		23935904	P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Nonsense_Mutation	SNP	ENST00000307839.5	37	CCDS2640.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889185	0.91889	.	.	ENSG00000174748	ENST00000307839;ENST00000413699;ENST00000412097;ENST00000510788;ENST00000435882;ENST00000415719;ENST00000354811	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.5614	0.95374	0.0:0.0:1.0:0.0	.	.	.	.	X	175;175;175;135;175;175;175	.	ENSP00000309334:G175X	G	+	1	0	RPL15	23935904	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.627000	0.74258	2.625000	0.88918	0.644000	0.83932	GGA		0.547	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948		T	23960900	G	T	23960900	4	4	142	1	0	0	0	0	0	1	0	0	13565	1349	47	3	533	3	RPL15	3	23960900	Nonsense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09		23960900	174061530	26	7782											
PLXNB1	5364	genome.wustl.edu	37	3	48450875	48450875	+	Silent	SNP	C	C	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr3:48450875C>G	ENST00000358536.4	-	34	6218	c.5949G>C	c.(5947-5949)ctG>ctC	p.L1983L	PLXNB1_ENST00000456774.1_Silent_p.L1800L|PLXNB1_ENST00000296440.6_Silent_p.L1983L|PLXNB1_ENST00000448774.2_Silent_p.L594L|PLXNB1_ENST00000358459.4_Silent_p.L1800L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1983					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.L1983L(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCAGAACCTCAGAGGCAAGC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	3											90	103	99					3																	48450875		2203	4300	6503	48425879	SO:0001819	synonymous_variant	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5949G>C	3.37:g.48450875C>G			48425879	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	CCDS2765.1																																																																																				0.542	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		G	48450875	C	G	48450875	2	3	142	1	0	0	0	0	0	0	0	1	12123	813	29	3		3	PLXNB1	3	48450875	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	24489975	48450875	149571555	27	7783											
USP19	10869	genome.wustl.edu	37	3	49148251	49148251	+	Silent	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr3:49148251C>A	ENST00000398888.2	-	23	3600	c.3282G>T	c.(3280-3282)ctG>ctT	p.L1094L	USP19_ENST00000453664.1_Silent_p.L1185L|USP19_ENST00000417901.1_Silent_p.L1197L|USP19_ENST00000398892.3_Silent_p.L1134L|USP19_ENST00000398896.1_Silent_p.L902L|USP19_ENST00000434032.2_Silent_p.L1195L|USP19_ENST00000398898.2_Silent_p.L1134L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1094	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.L1182L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCATAGCAACAGCTGCTTGG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	3											95	101	99					3																	49148251		2070	4210	6280	49123255	SO:0001819	synonymous_variant	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3282G>T	3.37:g.49148251C>A			49123255	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	CCDS43090.1																																																																																				0.537	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		A	49148251	C	A	49148251	2	1	142	1	0	0	0	0	0	0	0	1	17050	465	17	3		3	USP19	3	49148251	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	697376	49148251	148874179	28	7784											
CACNA2D3	55799	genome.wustl.edu	37	3	55021779	55021779	+	Splice_Site	SNP	A	A	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr3:55021779A>T	ENST00000474759.1	+	31	2737	c.2689A>T	c.(2689-2691)Aga>Tga	p.R897*	CACNA2D3_ENST00000490478.1_Splice_Site_p.R803*|CACNA2D3_ENST00000288197.5_Splice_Site_p.R897*|CACNA2D3_ENST00000415676.2_Splice_Site_p.R897*|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	897						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R897*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CTCCTTTAAAAGGTAAGGGTT	0.423																																																1	Substitution - Nonsense(1)	ovary(1)	3											114	110	111					3																	55021779		1813	4071	5884	54996819	SO:0001630	splice_region_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2690+1A>T	3.37:g.55021779A>T			54996819	B2RPL6|Q9NY16|Q9NY18	Nonsense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	A	43	10.492374	0.99415	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	.	.	.	5.79	4.61	0.57282	.	0.096936	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9687	0.53051	0.8557:0.1443:0.0:0.0	.	.	.	.	X	897;897;897;803;803	.	ENSP00000288197:R897X	R	+	1	2	CACNA2D3	54996819	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.717000	0.61923	0.990000	0.38787	0.533000	0.62120	AGA		0.423	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		Nonsense_Mutation	T	55021779	A	T	55021779	5	4	142	1	0	0	0	0	0	0	1	0	2550	86	3	5	2811	5	CACNA2D3	3	55021779	Splice_Site	SNP	A	TCGA-13-1498-01A-01W-0549-09	5873528	55021779	143000651	29	7785											
PDHB	5162	genome.wustl.edu	37	3	58414285	58414285	+	Silent	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr3:58414285G>A	ENST00000302746.6	-	9	891	c.849C>T	c.(847-849)gtC>gtT	p.V283V	PDHB_ENST00000485460.1_Silent_p.V265V|PDHB_ENST00000474765.1_Silent_p.V265V|RP11-802O23.3_ENST00000607214.1_RNA	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	283					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.V283V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	TTGTCTTCATGACACTGGCTT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	3											124	106	112					3																	58414285		2203	4300	6503	58389325	SO:0001819	synonymous_variant	5162				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.849C>T	3.37:g.58414285G>A			58389325	B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Silent	SNP	ENST00000302746.6	37	CCDS2890.1																																																																																				0.413	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353558.1			A	58414285	G	A	58414285	2	1	142	1	0	0	0	0	0	0	0	1	11666	1277	45	2		2	PDHB	3	58414285	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	3392506	58414285	139608145	30	7786											
PDZRN3	23024	genome.wustl.edu	37	3	73433881	73433881	+	Silent	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr3:73433881G>A	ENST00000263666.4	-	10	1950	c.1836C>T	c.(1834-1836)acC>acT	p.T612T	PDZRN3_ENST00000466780.1_Silent_p.T269T|PDZRN3_ENST00000535920.1_Silent_p.T334T|PDZRN3_ENST00000462146.2_Silent_p.T269T|PDZRN3_ENST00000479530.1_Silent_p.T329T|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	612					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T612T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGCTGCCCAAGGTGTCCTGGC	0.642																																																1	Substitution - coding silent(1)	ovary(1)	3											67	65	66					3																	73433881		2203	4300	6503	73516571	SO:0001819	synonymous_variant	23024			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1836C>T	3.37:g.73433881G>A			73516571	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	7.113	0.576396	0.13686	.	.	ENSG00000121440	ENST00000494559	.	.	.	4.77	-0.798	0.10905	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	.	3.4712	0.07567	0.151:0.3652:0.359:0.1248	.	.	.	.	L	209	.	.	P	-	2	0	PDZRN3	73516571	0.009000	0.17119	0.990000	0.47175	0.986000	0.74619	-1.277000	0.02812	-0.379000	0.07906	0.655000	0.94253	CCT		0.642	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		A	73433881	G	A	73433881	2	1	142	1	0	0	0	0	0	0	0	1	11709	987	35	2		2	PDZRN3	3	73433881	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	15019596	73433881	124588549	31	7787											
ACPP	55	genome.wustl.edu	37	3	132075559	132075579	+	In_Frame_Del	DEL	ATGAGACGCAGCACGAGCCGT	ATGAGACGCAGCACGAGCCGT	-	rs148218296|rs373024039		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	ATGAGACGCAGCACGAGCCGT	ATGAGACGCAGCACGAGCCGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr3:132075559_132075579delATGAGACGCAGCACGAGCCGT	ENST00000336375.5	+	10	1088_1108	c.998_1018delATGAGACGCAGCACGAGCCGT	c.(997-1020)aatgagacgcagcacgagccgtat>aat	p.ETQHEPY334del	ACPP_ENST00000475741.1_In_Frame_Del_p.ETQHEPY301del|ACPP_ENST00000351273.7_In_Frame_Del_p.ETQHEPY334del	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	334					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.E334_Y340delETQHEPY(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TACTATCGGAATGAGACGCAGCACGAGCCGTATCCCCTCAT	0.534																																																1	Deletion - In frame(1)	ovary(1)	3																																								133558269	SO:0001651	inframe_deletion	55				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.998_1018delATGAGACGCAGCACGAGCCGT	3.37:g.132075559_132075579delATGAGACGCAGCACGAGCCGT	ENSP00000337471:p.Glu334_Tyr340del		133558249	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	In_Frame_Del	DEL	ENST00000336375.5	37	CCDS3073.1																																																																																				0.534	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		-	132075579	ATGAGACGCAGCACGAGCCGT	-	132075559	7	5	142	1	0	1	0	1	0	0	0	0	167	101	4	0	1036	0	ACPP	3	132075559	In_Frame_Del	DEL	ATGAGACGCAGCACGAGCCGT	TCGA-13-1498-01A-01W-0549-09	58641678	132075559	65946871	32	7788											
PLD1	5337	genome.wustl.edu	37	3	171404519	171404519	+	Missense_Mutation	SNP	T	T	A	rs577809685		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr3:171404519T>A	ENST00000351298.4	-	16	1949	c.1823A>T	c.(1822-1824)cAc>cTc	p.H608L	PLD1_ENST00000340989.4_Missense_Mutation_p.H608L|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000356327.5_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	608	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.H608L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGGACGGGTGAAAGAGTTT	0.373																																					NSCLC(149;2174 3517 34058)											1	Substitution - Missense(1)	ovary(1)	3											135	143	140					3																	171404519		2203	4300	6503	172887213	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1823A>T	3.37:g.171404519T>A	ENSP00000342793:p.His608Leu		172887213		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	1.468	-0.560563	0.03939	.	.	ENSG00000075651	ENST00000351298;ENST00000340989	T;T	0.06218	3.5;3.33	5.68	-0.14	0.13456	.	0.861740	0.10306	N	0.690585	T	0.03915	0.0110	L	0.29908	0.895	0.22787	N	0.998734	B	0.02656	0.0	B	0.01281	0.0	T	0.46148	-0.9212	10	0.26408	T	0.33	-0.8385	1.2062	0.01895	0.1525:0.2681:0.1497:0.4297	.	608	Q13393	PLD1_HUMAN	L	608	ENSP00000342793:H608L;ENSP00000340326:H608L	ENSP00000340326:H608L	H	-	2	0	PLD1	172887213	0.792000	0.28813	0.638000	0.29380	0.531000	0.34715	-0.322000	0.08007	0.037000	0.15575	-0.251000	0.11542	CAC		0.373	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		A	171404519	T	A	171404519	3	1	142	1	0	0	0	0	1	0	0	0	12045	1696	59	5	1449	5	PLD1	3	171404519	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	39328960	171404519	26617911	33	7789											
FBXL5	26234	genome.wustl.edu	37	4	15628522	15628531	+	Frame_Shift_Del	DEL	AGTCTGGGTA	AGTCTGGGTA	-	rs377569649|rs199959677		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	AGTCTGGGTA	AGTCTGGGTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr4:15628522_15628531delAGTCTGGGTA	ENST00000341285.3	-	8	1213_1222	c.1089_1098delTACCCAGACT	c.(1087-1098)cttacccagactfs	p.LTQT363fs	FBXL5_ENST00000382358.4_Frame_Shift_Del_p.LTQT237fs|FBXL5_ENST00000412094.2_Frame_Shift_Del_p.LTQT346fs	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	363					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)	p.Q365fs*34(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTGAAATGTCAGTCTGGGTAAGATCCAGAT	0.319																																																1	Deletion - Frameshift(1)	ovary(1)	4																																								15237629	SO:0001589	frameshift_variant	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1089_1098delTACCCAGACT	4.37:g.15628522_15628531delAGTCTGGGTA	ENSP00000344866:p.Leu363fs		15237620	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Frame_Shift_Del	DEL	ENST00000341285.3	37	CCDS3415.1																																																																																				0.319	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			-	15628531	AGTCTGGGTA	-	15628522	7	5	142	1	0	1	0	1	0	0	0	0	5722	175	7	0	993	0	FBXL5	4	15628522	Frame_Shift_Del	DEL	AGTCTGGGTA	TCGA-13-1498-01A-01W-0549-09		15628522	175525754	34	7790											
USP53	54532	genome.wustl.edu	37	4	120189479	120189479	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr4:120189479G>C	ENST00000274030.6	+	14	2371	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	USP53_ENST00000450251.1_Missense_Mutation_p.D398H	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53									p.D397H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGGATTTGGTGATCAGGCAAA	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											63	60	61					4																	120189479		1824	4085	5909	120408927	SO:0001583	missense	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1192G>C	4.37:g.120189479G>C	ENSP00000274030:p.Asp398His		120408927		Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459657	0.43736	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.50548	0.74;0.74	5.46	4.59	0.56863	.	0.187671	0.44285	N	0.000473	T	0.44644	0.1303	L	0.53249	1.67	0.25737	N	0.985204	B	0.18741	0.03	B	0.14578	0.011	T	0.43147	-0.9409	10	0.54805	T	0.06	-13.9814	14.6802	0.69012	0.0:0.1439:0.8561:0.0	.	398	Q70EK8	UBP53_HUMAN	H	398	ENSP00000274030:D398H;ENSP00000409906:D398H	ENSP00000274030:D398H	D	+	1	0	USP53	120408927	1.000000	0.71417	0.926000	0.36857	0.981000	0.71138	3.770000	0.55310	2.570000	0.86706	0.563000	0.77884	GAT		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		C	120189479	G	C	120189479	3	2	142	1	0	0	0	0	1	0	0	0	17084	1290	45	3	1230	3	USP53	4	120189479	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	104560957	120189479	70964797	35	7791											
KIAA1109	84162	genome.wustl.edu	37	4	123267859	123267859	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr4:123267859A>G	ENST00000264501.4	+	75	13188	c.12815A>G	c.(12814-12816)tAt>tGt	p.Y4272C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y4272C			Q2LD37	K1109_HUMAN	KIAA1109	4272					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Y4272C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAGCATGGTATAGAAGAAGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											186	171	176					4																	123267859		1860	4098	5958	123487309	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12815A>G	4.37:g.123267859A>G	ENSP00000264501:p.Tyr4272Cys		123487309	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.2|25.2	4.612115|4.612115	0.87258|0.87258	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.60424	.|1.02;1.02;0.19	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76630|0.76630	0.4014|0.4014	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.79293|0.79293	-0.1863|-0.1863	5|10	.|0.87932	.|D	.|0	.|.	16.4943|16.4943	0.84223|0.84223	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4271;4272	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	V|C	648|4272;4272;941	.|ENSP00000264501:Y4272C;ENSP00000373390:Y4272C;ENSP00000410874:Y941C	.|ENSP00000264501:Y4272C	I|Y	+|+	1|2	0|0	KIAA1109|KIAA1109	123487309|123487309	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	9.339000|9.339000	0.96797|0.96797	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		G	123267859	A	G	123267859	3	3	142	1	0	0	0	0	1	0	0	0	8208	449	16	4	13105	4	KIAA1109	4	123267859	Missense_Mutation	SNP	A	TCGA-13-1498-01A-01W-0549-09	3078380	123267859	67886417	36	7792											
FAT4	79633	genome.wustl.edu	37	4	126408729	126408729	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr4:126408729C>T	ENST00000394329.3	+	16	13059	c.13046C>T	c.(13045-13047)cCa>cTa	p.P4349L	FAT4_ENST00000335110.5_Missense_Mutation_p.P2590L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4349	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P4292L(1)|p.P4349L(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGGAATTCCACCCAATCAA	0.383																																																2	Substitution - Missense(2)	ovary(2)	4											69	66	67					4																	126408729		2203	4300	6503	126628179	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13046C>T	4.37:g.126408729C>T	ENSP00000377862:p.Pro4349Leu		126628179	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833921	0.71373	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.83506	-1.73;-1.54	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.34268	U	0.004114	D	0.86715	0.5999	M	0.72118	2.19	0.80722	D	1	P;P;P	0.52577	0.944;0.954;0.944	P;P;P	0.54706	0.646;0.759;0.646	D	0.84668	0.0710	10	0.27785	T	0.31	.	13.2006	0.59765	0.159:0.841:0.0:0.0	.	2590;4349;4349	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	4349;2590	ENSP00000377862:P4349L;ENSP00000335169:P2590L	ENSP00000335169:P2590L	P	+	2	0	FAT4	126628179	0.999000	0.42202	1.000000	0.80357	0.737000	0.42083	4.041000	0.57339	2.532000	0.85374	0.650000	0.86243	CCA		0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126408729	C	T	126408729	3	4	142	1	0	0	0	0	1	0	0	0	5692	594	21	2	13108	2	FAT4	4	126408729	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	3140870	126408729	64745547	37	7793											
CDH18	1016	genome.wustl.edu	37	5	19838997	19838997	+	Silent	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr5:19838997C>T	ENST00000507958.1	-	5	1089	c.99G>A	c.(97-99)gtG>gtA	p.V33V	CDH18_ENST00000502796.1_Silent_p.V33V|CDH18_ENST00000511273.1_Silent_p.V33V|CDH18_ENST00000274170.4_Silent_p.V33V|CDH18_ENST00000506372.1_Silent_p.V33V|CDH18_ENST00000382275.1_Silent_p.V33V			Q13634	CAD18_HUMAN	cadherin 18, type 2	33					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V33V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGTTTCTCATCACCTTGATGG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	5											223	184	197					5																	19838997		2203	4300	6503	19874754	SO:0001819	synonymous_variant	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.99G>A	5.37:g.19838997C>T			19874754	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19838997	C	T	19838997	2	4	142	1	0	0	0	0	0	0	0	1	3103	813	29	2		2	CDH18	5	19838997	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09		19838997	161076263	38	7794											
WNT8A	7478	genome.wustl.edu	37	5	137419943	137419943	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr5:137419943G>C	ENST00000398754.1	+	2	78	c.73G>C	c.(73-75)Gtg>Ctg	p.V25L	WNT8A_ENST00000506684.1_Missense_Mutation_p.V43L	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	25					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.V25L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTAGGTCAGTGAACAATTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	5											130	129	129					5																	137419943		1912	4137	6049	137447842	SO:0001583	missense	7478			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"Wingless-type MMTV integration sites"	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.73G>C	5.37:g.137419943G>C	ENSP00000381739:p.Val25Leu		137447842	Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710661	0.68730	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.74842	-0.79;-0.78;-0.88	5.28	5.28	0.74379	.	0.244211	0.24854	N	0.035073	T	0.74718	0.3753	L	0.37561	1.115	0.80722	D	1	B;B;D	0.53745	0.345;0.345;0.962	B;B;P	0.51701	0.163;0.163;0.677	T	0.69982	-0.4997	10	0.23302	T	0.38	.	19.1173	0.93346	0.0:0.0:1.0:0.0	.	43;43;25	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	L	43;43;25	ENSP00000426653:V43L;ENSP00000424809:V43L;ENSP00000381739:V25L	ENSP00000354726:V25L	V	+	1	0	WNT8A	137447842	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.263000	0.95617	2.746000	0.94184	0.655000	0.94253	GTG		0.507	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		C	137419943	G	C	137419943	3	2	142	1	0	0	0	0	1	0	0	0	17396	1029	36	3	79	3	WNT8A	5	137419943	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	117580946	137419943	43495317	39	7795											
FAM53C	51307	genome.wustl.edu	37	5	137682561	137682561	+	Silent	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr5:137682561G>T	ENST00000239906.5	+	5	1520	c.1092G>T	c.(1090-1092)gtG>gtT	p.V364V	FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Silent_p.V364V|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	364								p.V364V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGGGGCTGTGCGGTGGGGTC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	5											37	45	42					5																	137682561		2203	4300	6503	137710460	SO:0001819	synonymous_variant	51307			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.1092G>T	5.37:g.137682561G>T			137710460	B2RDJ5|D3DQB9	Silent	SNP	ENST00000239906.5	37	CCDS4204.1																																																																																				0.607	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		T	137682561	G	T	137682561	2	4	142	1	0	0	0	0	0	0	0	1	5581	1306	46	3		3	FAM53C	5	137682561	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	262618	137682561	43232699	40	7796											
PCDHGA5	56110	genome.wustl.edu	37	5	140745791	140745791	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr5:140745791C>A	ENST00000518069.1	+	1	1894	c.1894C>A	c.(1894-1896)Ctg>Atg	p.L632M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	632	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L632M(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGAGCCCTGCTGGACAG	0.672																																																1	Substitution - Missense(1)	ovary(1)	5											69	78	75					5																	140745791		2203	4300	6503	140725975	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1894C>A	5.37:g.140745791C>A	ENSP00000429834:p.Leu632Met		140725975	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.357023	0.24598	.	.	ENSG00000253485	ENST00000518069	T	0.15834	2.39	4.58	3.42	0.39159	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35422	0.0931	M	0.84219	2.685	0.09310	N	1	P;P	0.49358	0.906;0.923	P;P	0.55161	0.66;0.77	T	0.11324	-1.0592	9	0.66056	D	0.02	.	8.3159	0.32100	0.0:0.7727:0.0:0.2273	.	632;632	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	M	632	ENSP00000429834:L632M	ENSP00000429834:L632M	L	+	1	2	PCDHGA5	140725975	0.000000	0.05858	0.996000	0.52242	0.205000	0.24178	-0.211000	0.09332	2.266000	0.75297	0.563000	0.77884	CTG		0.672	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		A	140745791	C	A	140745791	3	1	142	1	0	0	0	0	1	0	0	0	11557	680	24	3	1896	3	PCDHGA5	5	140745791	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	3063230	140745791	40169469	41	7797											
GABRG2	2566	genome.wustl.edu	37	5	161531031	161531031	+	Splice_Site	SNP	C	C	A	rs201672465	byFrequency	TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr5:161531031C>A	ENST00000361925.4	+	6	988	c.768C>A	c.(766-768)tcC>tcA	p.S256S	GABRG2_ENST00000356592.3_Splice_Site_p.S256S|GABRG2_ENST00000393933.4_Splice_Site_p.S161S|GABRG2_ENST00000414552.2_Splice_Site_p.S296S			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	256					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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.S256S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACAACTTCCGGTAAGATGC	0.383																																																1	Substitution - coding silent(1)	ovary(1)	5											72	70	71					5																	161531031		2203	4300	6503	161463609	SO:0001630	splice_region_variant	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.769+1C>A	5.37:g.161531031C>A			161463609	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	CCDS4358.1																																																																																				0.383	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		Silent	A	161531031	C	A	161531031	5	1	142	1	0	0	0	0	0	0	1	0	6172	666	23	3	914	3	GABRG2	5	161531031	Splice_Site	SNP	C	TCGA-13-1498-01A-01W-0549-09	20785240	161531031	19384229	42	7798											
RUFY1	80230	genome.wustl.edu	37	5	179036423	179036423	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr5:179036423G>C	ENST00000319449.4	+	18	2042	c.2030G>C	c.(2029-2031)aGc>aCc	p.S677T	RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000393438.2_Missense_Mutation_p.S569T|RUFY1_ENST00000437570.2_Missense_Mutation_p.S569T|RUFY1_ENST00000508797.1_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	677					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.S569T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTGCTCCAGCAACGAGCTG	0.652										HNSCC(44;0.11)																																						1	Substitution - Missense(1)	ovary(1)	5											85	67	73					5																	179036423		2203	4300	6503	178969029	SO:0001583	missense	80230			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.2030G>C	5.37:g.179036423G>C	ENSP00000325594:p.Ser677Thr		178969029	Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	N	13.30	2.195288	0.38806	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.72835	-0.69;-0.69;-0.69	5.34	4.45	0.53987	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.079098	0.85682	D	0.000000	T	0.65026	0.2652	L	0.46885	1.475	0.80722	D	1	B	0.18863	0.031	B	0.25759	0.063	T	0.59621	-0.7420	10	0.19590	T	0.45	-3.6536	16.1261	0.81397	0.0:0.1341:0.8659:0.0	.	677	Q96T51	RUFY1_HUMAN	T	677;569;569;279	ENSP00000325594:S677T;ENSP00000390025:S569T;ENSP00000377087:S569T	ENSP00000325594:S677T	S	+	2	0	RUFY1	178969029	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	5.673000	0.68109	1.350000	0.45770	0.549000	0.68633	AGC		0.652	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		C	179036423	G	C	179036423	3	2	142	1	0	0	0	0	1	0	0	0	13741	971	34	3	2100	3	RUFY1	5	179036423	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	17505392	179036423	1878837	43	7799											
PPP1R11	6992	genome.wustl.edu	37	6	30036907	30036907	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr6:30036907G>T	ENST00000376772.3	+	3	528	c.205G>T	c.(205-207)Gcc>Tcc	p.A69S	PPP1R11_ENST00000376763.1_Missense_Mutation_p.A17S|PPP1R11_ENST00000376769.2_Missense_Mutation_p.A17S|PPP1R11_ENST00000376758.1_Missense_Mutation_p.A17S|PPP1R11_ENST00000376773.1_Missense_Mutation_p.A17S|PPP1R11_ENST00000376765.2_Missense_Mutation_p.A17S	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	69						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.A69S(1)		lung(2)|ovary(1)|prostate(1)|skin(2)	6						GAAACCTCGGGCCTTTGGCGA	0.512																																					Pancreas(185;1767 3918 43793)											1	Substitution - Missense(1)	ovary(1)	6											57	62	60					6																	30036907		1510	2707	4217	30144886	SO:0001583	missense	6992			X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.205G>T	6.37:g.30036907G>T	ENSP00000365963:p.Ala69Ser		30144886		Missense_Mutation	SNP	ENST00000376772.3	37	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964527	0.74131	.	.	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.4	4.54	0.55810	.	0.110785	0.64402	D	0.000009	T	0.45115	0.1326	L	0.53671	1.685	0.37622	D	0.921332	P	0.52170	0.951	P	0.51866	0.682	T	0.52997	-0.8500	9	0.66056	D	0.02	-2.513	10.2932	0.43608	0.0918:0.0:0.9082:0.0	.	69	O60927	PP1RB_HUMAN	S	17;69;17;17;17;17	.	ENSP00000365949:A17S	A	+	1	0	PPP1R11	30144886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.455000	0.60075	1.269000	0.44280	0.549000	0.68633	GCC		0.512	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		T	30036907	G	T	30036907	3	4	142	1	0	0	0	0	1	0	0	0	12356	1203	42	3	215	3	PPP1R11	6	30036907	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09		30036907	141078160	44	7800											
VARS	7407	genome.wustl.edu	37	6	31746775	31746775	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr6:31746775G>A	ENST00000375663.3	-	29	4135	c.3695C>T	c.(3694-3696)cCg>cTg	p.P1232L	VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000467576.1_5'Flank|VARS_ENST00000482996.1_5'Flank|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000447450.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1232					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.P1232L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GACTTCGAGCGGCACCTTGAC	0.647																																																1	Substitution - Missense(1)	ovary(1)	6											48	53	52					6																	31746775		1503	2699	4202	31854754	SO:0001583	missense	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3695C>T	6.37:g.31746775G>A	ENSP00000364815:p.Pro1232Leu		31854754	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225996	0.58668	.	.	ENSG00000204394	ENST00000375663	T	0.06528	3.29	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00346	-1.1800	10	0.87932	D	0	-22.3061	15.805	0.78491	0.0:0.0:1.0:0.0	.	1232	P26640	SYVC_HUMAN	L	1232	ENSP00000364815:P1232L	ENSP00000364815:P1232L	P	-	2	0	VARS	31854754	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	5.105000	0.64591	2.593000	0.87608	0.456000	0.33151	CCG		0.647	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		A	31746775	G	A	31746775	3	1	142	1	0	0	0	0	1	0	0	0	17123	1116	39	1	107	1	VARS	6	31746775	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	1709868	31746775	139368292	45	7801											
BRD2	6046	genome.wustl.edu	37	6	32945907	32945907	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr6:32945907G>C	ENST00000374825.4	+	10	3284	c.1583G>C	c.(1582-1584)cGg>cCg	p.R528P	BRD2_ENST00000395287.1_Missense_Mutation_p.R528P|BRD2_ENST00000374831.4_Missense_Mutation_p.R528P|BRD2_ENST00000443797.2_Missense_Mutation_p.R408P|BRD2_ENST00000449085.2_Missense_Mutation_p.R481P|BRD2_ENST00000395289.2_Missense_Mutation_p.R528P	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	528					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.R528P(1)		central_nervous_system(3)|stomach(2)	5						CTTTAGCTTCGGGCAGTACAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	6											37	44	41					6																	32945907		1503	2706	4209	33053885	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1583G>C	6.37:g.32945907G>C	ENSP00000363958:p.Arg528Pro		33053885	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.034333|4.034333	0.75617|0.75617	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.12147	.|2.71;2.71;2.71;2.71;2.71;2.71	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.153231	.|0.30528	.|N	.|0.009439	T|T	0.21267|0.21267	0.0512|0.0512	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;B	.|0.60160	.|0.987;0.064	.|P;B	.|0.51453	.|0.67;0.018	T|T	0.00829|0.00829	-1.1549|-1.1549	5|10	.|0.56958	.|D	.|0.05	-13.2152|-13.2152	16.6505|16.6505	0.85188|0.85188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|528;528	.|A2AAU0;P25440	.|.;BRD2_HUMAN	R|P	534|528;528;528;408;528;481	.|ENSP00000363958:R528P;ENSP00000363964:R528P;ENSP00000378704:R528P;ENSP00000413495:R408P;ENSP00000378702:R528P;ENSP00000409145:R481P	.|ENSP00000363958:R528P	G|R	+|+	1|2	0|0	BRD2|BRD2	33053885|33053885	0.028000|0.028000	0.19301|0.19301	1.000000|1.000000	0.80357|0.80357	0.690000|0.690000	0.40134|0.40134	1.926000|1.926000	0.40084|0.40084	2.786000|2.786000	0.95864|0.95864	0.643000|0.643000	0.83706|0.83706	GGG|CGG		0.388	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			C	32945907	G	C	32945907	3	2	142	1	0	0	0	0	1	0	0	0	1502	1116	39	3	1617	3	BRD2	6	32945907	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	1199132	32945907	138169160	46	7802											
PKHD1	5314	genome.wustl.edu	37	6	51483974	51483974	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr6:51483974A>C	ENST00000371117.3	-	67	12405	c.12130T>G	c.(12130-12132)Ttg>Gtg	p.L4044V	RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4044					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L4044V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAGCCCCAAGCTGCCACTT	0.552																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	6											43	45	44					6																	51483974		2203	4300	6503	51591933	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.12130T>G	6.37:g.51483974A>C	ENSP00000360158:p.Leu4044Val		51591933	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	9.797	1.179552	0.21787	.	.	ENSG00000170927	ENST00000371117	D	0.86497	-2.13	5.27	-4.87	0.03123	.	1.776200	0.03235	N	0.179515	T	0.60051	0.2239	L	0.28740	0.885	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.54029	-0.8354	10	0.40728	T	0.16	.	4.4046	0.11402	0.238:0.5329:0.0898:0.1392	.	4044	P08F94	PKHD1_HUMAN	V	4044	ENSP00000360158:L4044V	ENSP00000360158:L4044V	L	-	1	2	PKHD1	51591933	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.131000	0.03238	-0.534000	0.06315	0.533000	0.62120	TTG		0.552	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51483974	A	C	51483974	3	2	142	1	0	0	0	0	1	0	0	0	11971	69	3	5	98	5	PKHD1	6	51483974	Missense_Mutation	SNP	A	TCGA-13-1498-01A-01W-0549-09	18538067	51483974	119631093	47	7803											
HACE1	57531	genome.wustl.edu	37	6	105198338	105198338	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr6:105198338C>G	ENST00000262903.4	-	20	2497	c.2221G>C	c.(2221-2223)Gtc>Ctc	p.V741L	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.V526L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	741	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.V741L(1)|p.V741F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ACAAGCTGGACGTACTCCGCC	0.353																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)	6											98	90	93					6																	105198338		2203	4300	6503	105305031	SO:0001583	missense	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2221G>C	6.37:g.105198338C>G	ENSP00000262903:p.Val741Leu		105305031	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746671	0.89663	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.50548	0.74;0.74	5.3	5.3	0.74995	HECT (4);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	L	0.52823	1.66	0.34240	D	0.677519	D;D;D;D	0.89917	0.994;1.0;0.967;0.959	D;D;D;D	0.87578	0.979;0.998;0.964;0.94	T	0.64533	-0.6385	10	0.87932	D	0	.	18.9352	0.92583	0.0:1.0:0.0:0.0	.	526;230;741;394	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	L	741;526	ENSP00000262903:V741L;ENSP00000358121:V526L	ENSP00000262903:V741L	V	-	1	0	HACE1	105305031	1.000000	0.71417	0.981000	0.43875	0.907000	0.53573	7.323000	0.79105	2.473000	0.83533	0.563000	0.77884	GTC		0.353	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		G	105198338	C	G	105198338	3	3	142	1	0	0	0	0	1	0	0	0	6940	536	19	3	528	3	HACE1	6	105198338	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	53714364	105198338	65916729	48	7804											
LAMA4	3910	genome.wustl.edu	37	6	112443318	112443318	+	Silent	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr6:112443318G>A	ENST00000230538.7	-	32	4771	c.4374C>T	c.(4372-4374)caC>caT	p.H1458H	LAMA4_ENST00000522006.1_Silent_p.H1451H|LAMA4_ENST00000389463.4_Silent_p.H1451H|LAMA4_ENST00000424408.2_Silent_p.H1451H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1458					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.H1451H(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGTTGGAAAGGTGGCAATGAG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	6											164	154	157					6																	112443318		2203	4300	6503	112550011	SO:0001819	synonymous_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4374C>T	6.37:g.112443318G>A			112550011	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																				0.458	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		A	112443318	G	A	112443318	2	1	142	1	0	0	0	0	0	0	0	1	8608	1252	44	2		2	LAMA4	6	112443318	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	7244980	112443318	58671749	49	7805											
MAP3K5	4217	genome.wustl.edu	37	6	137019626	137019626	+	Splice_Site	SNP	C	C	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr6:137019626C>G	ENST00000359015.4	-	4	1167		c.e4+1			NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTAAACTTTACCTAGAACTTG	0.383																																																1	Unknown(1)	ovary(1)	6											65	62	63					6																	137019626		2203	4300	6503	137061319	SO:0001630	splice_region_variant	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.806+1G>C	6.37:g.137019626C>G			137061319	A6NIA0|B4DGB2|Q5THN3|Q99461	Splice_Site	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396406	0.83011	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K5	137061319	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.270000	0.78493	2.703000	0.92315	0.655000	0.94253	.		0.383	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		Intron	G	137019626	C	G	137019626	5	3	142	1	0	0	0	0	0	0	1	0	9253	521	18	3	3425	3	MAP3K5	6	137019626	Splice_Site	SNP	C	TCGA-13-1498-01A-01W-0549-09	24576308	137019626	34095441	50	7806											
SYNE1	23345	genome.wustl.edu	37	6	152683379	152683379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr6:152683379C>A	ENST00000367255.5	-	64	10826	c.10225G>T	c.(10225-10227)Gaa>Taa	p.E3409*	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E3416*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E3409*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E3416*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3409					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E3409*(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGTTGGCTTCCATACTATCC	0.493										HNSCC(10;0.0054)																																						2	Substitution - Nonsense(2)	ovary(2)	6											139	123	129					6																	152683379		2203	4300	6503	152725072	SO:0001587	stop_gained	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10225G>T	6.37:g.152683379C>A	ENSP00000356224:p.Glu3409*		152725072	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	54	21.926216	0.99944	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.2776	0.94038	0.0:1.0:0.0:0.0	.	.	.	.	X	3409;3416;3409;3416	.	ENSP00000265368:E3409X	E	-	1	0	SYNE1	152725072	1.000000	0.71417	0.959000	0.39883	0.054000	0.15201	7.424000	0.80242	2.611000	0.88343	0.655000	0.94253	GAA		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152683379	C	A	152683379	4	1	142	1	0	0	0	0	0	1	0	0	15445	864	30	3	16573	3	SYNE1	6	152683379	Nonsense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	15663753	152683379	18431688	51	7807											
AMPH	273	genome.wustl.edu	37	7	38429468	38429468	+	Silent	SNP	A	A	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr7:38429468A>G	ENST00000356264.2	-	20	2132	c.1917T>C	c.(1915-1917)gaT>gaC	p.D639D	AMPH_ENST00000325590.5_Silent_p.D597D|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Silent_p.D597D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	639	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.D639D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGGTAAGTTCATCAGAATTTG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	7											181	171	174					7																	38429468		2203	4300	6503	38395993	SO:0001819	synonymous_variant	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1917T>C	7.37:g.38429468A>G			38395993	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	A	8.884	0.952458	0.18431	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.04	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.0462	9.31	0.37898	0.8504:0.0:0.1495:0.0	.	.	.	.	R	522	.	.	X	-	1	0	AMPH	38395993	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.274000	0.58921	1.024000	0.39682	-0.456000	0.05471	TGA		0.418	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		G	38429468	A	G	38429468	2	3	142	1	0	0	0	0	0	0	0	1	588	214	8	4		4	AMPH	7	38429468	Silent	SNP	A	TCGA-13-1498-01A-01W-0549-09		38429468	120709195	52	7808											
VSTM2A	222008	genome.wustl.edu	37	7	54617710	54617710	+	Missense_Mutation	SNP	G	G	A	rs548506452		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr7:54617710G>A	ENST00000407838.3	+	4	887	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	VSTM2A_ENST00000402026.2_Missense_Mutation_p.E160K|VSTM2A_ENST00000404951.1_Missense_Mutation_p.E161K|VSTM2A_ENST00000402613.3_Missense_Mutation_p.E161K|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000302287.3_Missense_Mutation_p.E161K	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	161						extracellular region (GO:0005576)		p.E160K(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCAGGCCTTCGAAGCCTCGCC	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		16996	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7											62	56	58					7																	54617710		2203	4299	6502	54585204	SO:0001583	missense	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.481G>A	7.37:g.54617710G>A	ENSP00000384967:p.Glu161Lys		54585204	A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511284	0.64522	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.54071	0.61;0.62;0.6;0.61;0.59	5.06	5.06	0.68205	.	0.049488	0.85682	D	0.000000	T	0.66268	0.2772	L	0.46157	1.445	0.36811	D	0.885866	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.986;0.994;0.981	T	0.70905	-0.4745	10	0.49607	T	0.09	-28.802	16.2779	0.82654	0.0:0.0:1.0:0.0	.	161;161;161	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	K	161;161;161;160;161	ENSP00000303108:E161K;ENSP00000384967:E161K;ENSP00000384701:E161K;ENSP00000385933:E160K;ENSP00000384103:E161K	ENSP00000303108:E161K	E	+	1	0	VSTM2A	54585204	1.000000	0.71417	0.995000	0.50966	0.768000	0.43524	6.097000	0.71452	2.501000	0.84356	0.655000	0.94253	GAA		0.592	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		A	54617710	G	A	54617710	3	1	142	1	0	0	0	0	1	0	0	0	17229	1059	37	1	495	1	VSTM2A	7	54617710	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	16188242	54617710	104520953	53	7809											
PTPRZ1	5803	genome.wustl.edu	37	7	121651099	121651099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr7:121651099G>T	ENST00000393386.2	+	12	2410	c.1999G>T	c.(1999-2001)Gga>Tga	p.G667*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.G667*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	667					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G667*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCCCGATGTTGGATCAGGCAG	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	7											71	62	65					7																	121651099		2203	4300	6503	121438335	SO:0001587	stop_gained	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1999G>T	7.37:g.121651099G>T	ENSP00000377047:p.Gly667*		121438335	A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	37	6.332964	0.97480	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.87	2.74	0.32292	.	0.555381	0.18310	N	0.145140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.3595	0.16079	0.2239:0.4376:0.3384:0.0	.	.	.	.	X	667	.	ENSP00000377047:G667X	G	+	1	0	PTPRZ1	121438335	0.062000	0.20869	0.017000	0.16124	0.891000	0.51852	1.018000	0.30002	1.484000	0.48361	0.655000	0.94253	GGA		0.448	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121651099	G	T	121651099	4	4	142	1	0	0	0	0	0	1	0	0	12817	1349	47	3	2045	3	PTPRZ1	7	121651099	Nonsense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	67033389	121651099	37487564	54	7810											
MSR1	4481	genome.wustl.edu	37	8	15967728	15967728	+	Splice_Site	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr8:15967728C>T	ENST00000262101.5	-	10	1344		c.e10-1		MSR1_ENST00000445506.2_Splice_Site|MSR1_ENST00000350896.3_Splice_Site|MSR1_ENST00000355282.2_Splice_Site			P21757	MSRE_HUMAN	macrophage scavenger receptor 1						cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.?(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GGACCAGTACCTGCAATAATG	0.368																																																1	Unknown(1)	ovary(1)	8											84	88	87					8																	15967728		2203	4300	6503	16012099	SO:0001630	splice_region_variant	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1223-1G>A	8.37:g.15967728C>T			16012099	D3DSP3|O60505|P21759|Q45F10	Splice_Site	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948671	0.73787	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1413	0.65322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MSR1	16012099	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.201000	0.58439	2.458000	0.83093	0.650000	0.86243	.		0.368	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		Intron	T	15967728	C	T	15967728	5	4	142	1	0	0	0	0	0	0	1	0	9886	695	24	2	137	2	MSR1	8	15967728	Splice_Site	SNP	C	TCGA-13-1498-01A-01W-0549-09		15967728	130396294	55	7811											
FUT10	84750	genome.wustl.edu	37	8	33246748	33246748	+	Silent	SNP	A	A	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr8:33246748A>C	ENST00000327671.5	-	4	1576	c.945T>G	c.(943-945)ctT>ctG	p.L315L	FUT10_ENST00000518672.1_Silent_p.L287L|FUT10_ENST00000524021.1_Silent_p.L287L|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Silent_p.L253L	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	315					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.L315L(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TGTTACTTGGAAGCCAGTCTG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	8											53	49	50					8																	33246748		2203	4300	6503	33366290	SO:0001819	synonymous_variant	84750			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.945T>G	8.37:g.33246748A>C			33366290	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Silent	SNP	ENST00000327671.5	37	CCDS6088.1																																																																																				0.458	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		C	33246748	A	C	33246748	2	2	142	1	0	0	0	0	0	0	0	1	6102	233	9	5		5	FUT10	8	33246748	Silent	SNP	A	TCGA-13-1498-01A-01W-0549-09	17279020	33246748	113117274	56	7812											
STAR	6770	genome.wustl.edu	37	8	38006254	38006254	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr8:38006254A>T	ENST00000276449.4	-	2	529	c.83T>A	c.(82-84)gTg>gAg	p.V28E	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	28					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)	p.V28E(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GATGGCCATCACAGCCTGTTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	8											32	35	34					8																	38006254		2203	4300	6503	38125411	SO:0001583	missense	6770			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.83T>A	8.37:g.38006254A>T	ENSP00000276449:p.Val28Glu		38125411	Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.02|14.02	2.410485|2.410485	0.42715|0.42715	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000276449|ENST00000522050	D|.	0.88509|.	-2.39|.	5.28|5.28	2.91|2.91	0.33838|0.33838	.|.	0.710749|.	0.14761|.	N|.	0.299965|.	T|.	0.41971|.	0.1182|.	L|L	0.55481|0.55481	1.735|1.735	0.19300|0.19300	N|N	0.999973|0.999973	B|.	0.28933|.	0.228|.	B|.	0.31812|.	0.136|.	T|.	0.27123|.	-1.0083|.	10|.	0.72032|.	D|.	0.01|.	-7.9645|-7.9645	7.2037|7.2037	0.25895|0.25895	0.6116:0.0:0.3884:0.0|0.6116:0.0:0.3884:0.0	.|.	28|.	P49675|.	STAR_HUMAN|.	E|R	28|7	ENSP00000276449:V28E|.	ENSP00000276449:V28E|.	V|X	-|-	2|1	0|0	STAR|STAR	38125411|38125411	0.137000|0.137000	0.22531|0.22531	0.112000|0.112000	0.21494|0.21494	0.352000|0.352000	0.29268|0.29268	3.810000|3.810000	0.55613|0.55613	0.420000|0.420000	0.25954|0.25954	0.379000|0.379000	0.24179|0.24179	GTG|TGA		0.602	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		T	38006254	A	T	38006254	3	4	142	1	0	0	0	0	1	0	0	0	15256	159	6	5	798	5	STAR	8	38006254	Missense_Mutation	SNP	A	TCGA-13-1498-01A-01W-0549-09	4759506	38006254	108357768	57	7813											
RB1CC1	9821	genome.wustl.edu	37	8	53555089	53555089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr8:53555089C>A	ENST00000025008.5	-	18	4682	c.4159G>T	c.(4159-4161)Gaa>Taa	p.E1387*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.E1387*|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.E1387*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1387					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.E1387*(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTGACTTCTTCTTCAAGCTTT	0.403																																					GBM(180;1701 2102 13475 42023 52570)											1	Substitution - Nonsense(1)	ovary(1)	8											105	99	101					8																	53555089		2203	4300	6503	53717642	SO:0001587	stop_gained	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4159G>T	8.37:g.53555089C>A	ENSP00000025008:p.Glu1387*		53717642	Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	49	14.930870	0.99816	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.61	5.61	0.85477	.	0.054168	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-20.9061	18.6201	0.91318	0.0:1.0:0.0:0.0	.	.	.	.	X	1387	.	ENSP00000025008:E1387X	E	-	1	0	RB1CC1	53717642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.619000	0.74219	2.632000	0.89209	0.655000	0.94253	GAA		0.403	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53555089	C	A	53555089	4	1	142	1	0	0	0	0	0	1	0	0	13102	922	32	3	653	3	RB1CC1	8	53555089	Nonsense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	15548835	53555089	92808933	58	7814											
TMEM67	91147	genome.wustl.edu	37	8	94809683	94809683	+	Silent	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr8:94809683C>T	ENST00000453321.3	+	20	2143	c.2085C>T	c.(2083-2085)gtC>gtT	p.V695V	TMEM67_ENST00000409623.3_Silent_p.V614V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	695					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.V685V(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TACTTACTGTCCTCTTCTTTT	0.299																																																1	Substitution - coding silent(1)	ovary(1)	8											111	106	108					8																	94809683		2203	4300	6503	94878859	SO:0001819	synonymous_variant	91147			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2085C>T	8.37:g.94809683C>T			94878859	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	CCDS6258.2																																																																																				0.299	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		T	94809683	C	T	94809683	2	4	142	1	0	0	0	0	0	0	0	1	16196	842	30	2		2	TMEM67	8	94809683	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	41254594	94809683	51554339	59	7815											
RSPO2	340419	genome.wustl.edu	37	8	109001330	109001330	+	Silent	SNP	T	T	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr8:109001330T>A	ENST00000276659.5	-	3	857	c.237A>T	c.(235-237)ccA>ccT	p.P79P	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_Silent_p.P12P|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	79					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.P79P(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AGTACCCGGATGGGCAGGAAT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	8											112	94	100					8																	109001330		2203	4300	6503	109070506	SO:0001819	synonymous_variant	340419			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.237A>T	8.37:g.109001330T>A			109070506	B3KVP0|Q4G0U4|Q8N6X6	Silent	SNP	ENST00000276659.5	37	CCDS6307.1																																																																																				0.488	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		A	109001330	T	A	109001330	2	1	142	1	0	0	0	0	0	0	0	1	13713	1451	51	5		5	RSPO2	8	109001330	Silent	SNP	T	TCGA-13-1498-01A-01W-0549-09	14191647	109001330	37362692	60	7816											
APTX	54840	genome.wustl.edu	37	9	32989805	32989805	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr9:32989805G>A	ENST00000379819.1	-	2	126	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	APTX_ENST00000379817.2_Missense_Mutation_p.R29C|APTX_ENST00000309615.3_Missense_Mutation_p.R43C|APTX_ENST00000379825.2_Missense_Mutation_p.R43C|APTX_ENST00000463596.1_Missense_Mutation_p.R29C|APTX_ENST00000397172.3_Missense_Mutation_p.R43C|APTX_ENST00000436040.2_Missense_Mutation_p.R29C|APTX_ENST00000468275.1_Missense_Mutation_p.R29C|APTX_ENST00000379813.3_Missense_Mutation_p.R29C|APTX_ENST00000476858.1_Missense_Mutation_p.R43C			Q7Z2E3	APTX_HUMAN	aprataxin	43	FHA-like.|Interactions with ADPRT and NCL.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)	p.R43C(1)		endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TCTGGGCCACGCCCAATCACA	0.478								Editing and processing nucleases																																								1	Substitution - Missense(1)	ovary(1)	9											125	104	111					9																	32989805		2203	4300	6503	32979805	SO:0001583	missense	54840			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"ataxia 1, early onset with hypoalbuminemia"	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.127C>T	9.37:g.32989805G>A	ENSP00000369147:p.Arg43Cys		32979805	A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37		.	.	.	.	.	.	.	.	.	.	G	25.3	4.622273	0.87460	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000397172;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000379812;ENST00000473221;ENST00000477119	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97906	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-4.6;-3.0;-3.0;-4.05;-3.0	5.58	5.58	0.84498	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99764	1.1022	10	0.87932	D	0	-11.6207	17.0674	0.86563	0.0:0.0:1.0:0.0	.	43;43;43;29;43	C9JZ40;Q7Z2E3-3;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;.;APTX_HUMAN	C	43;43;43;29;29;43;29;29;43;43;29;43;43;29	ENSP00000369153:R43C;ENSP00000311547:R43C;ENSP00000380357:R43C;ENSP00000369145:R29C;ENSP00000400806:R29C;ENSP00000369147:R43C;ENSP00000420263:R29C;ENSP00000419846:R29C;ENSP00000419042:R43C;ENSP00000369141:R29C;ENSP00000369140:R43C;ENSP00000419020:R43C;ENSP00000417649:R29C	ENSP00000311547:R43C	R	-	1	0	APTX	32979805	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	7.394000	0.79862	2.636000	0.89361	0.655000	0.94253	CGT		0.478	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		A	32989805	G	A	32989805	3	1	142	1	0	0	0	0	1	0	0	0	820	1087	38	1	980	1	APTX	9	32989805	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09		32989805	108223626	61	7817											
NAA35	60560	genome.wustl.edu	37	9	88557111	88557111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr9:88557111delG	ENST00000361671.5	+	2	170	c.37delG	c.(37-39)ggafs	p.G13fs	NAA35_ENST00000376040.1_Frame_Shift_Del_p.G13fs	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	13					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)		p.G13fs*31(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TGACGATTCAGGATGGGAGCT	0.398																																																1	Deletion - Frameshift(1)	ovary(1)	9											130	119	123					9																	88557111		2203	4300	6503	87746931	SO:0001589	frameshift_variant	60560			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.37delG	9.37:g.88557111delG	ENSP00000354972:p.Gly13fs		87746931	Q5VZE6|Q9H631|Q9H703	Frame_Shift_Del	DEL	ENST00000361671.5	37	CCDS6673.1																																																																																				0.398	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		-	88557111	G	-	88557111	7	5	142	1	0	1	0	1	0	0	0	0	10123	1001	35	0	39	0	NAA35	9	88557111	Frame_Shift_Del	DEL	G	TCGA-13-1498-01A-01W-0549-09	55567306	88557111	52656320	62	7818											
TMEM38B	55151	genome.wustl.edu	37	9	108467893	108467893	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr9:108467893C>A	ENST00000374692.3	+	2	245	c.128C>A	c.(127-129)gCa>gAa	p.A43E	TMEM38B_ENST00000374688.1_De_novo_Start_OutOfFrame	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	43						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.A43E(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GCTGCATTGGCATGGAAGAAT	0.383																																																1	Substitution - Missense(1)	ovary(1)	9											189	173	178					9																	108467893		2203	4300	6503	107507714	SO:0001583	missense	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.128C>A	9.37:g.108467893C>A	ENSP00000363824:p.Ala43Glu		107507714	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172098	0.78452	.	.	ENSG00000095209	ENST00000374692	T	0.44881	0.91	5.61	5.61	0.85477	.	0.236322	0.44097	D	0.000488	T	0.60881	0.2303	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.54397	-0.8300	10	0.28530	T	0.3	-8.5428	17.1414	0.86755	0.0:1.0:0.0:0.0	.	43	Q9NVV0	TM38B_HUMAN	E	43	ENSP00000363824:A43E	ENSP00000363824:A43E	A	+	2	0	TMEM38B	107507714	0.999000	0.42202	0.983000	0.44433	0.799000	0.45148	5.234000	0.65343	2.653000	0.90120	0.655000	0.94253	GCA		0.383	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		A	108467893	C	A	108467893	3	1	142	1	0	0	0	0	1	0	0	0	16160	710	25	3	134	3	TMEM38B	9	108467893	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	19910782	108467893	32745538	63	7819											
TNFSF8	944	genome.wustl.edu	37	9	117666273	117666273	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr9:117666273C>T	ENST00000223795.2	-	4	756	c.643G>A	c.(643-645)Gat>Aat	p.D215N	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	215					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)	p.D215N(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTGCTTGTATCTATGTACTGG	0.423																																																1	Substitution - Missense(1)	ovary(1)	9											247	226	233					9																	117666273		2203	4300	6503	116706094	SO:0001583	missense	944			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.643G>A	9.37:g.117666273C>T	ENSP00000223795:p.Asp215Asn		116706094	O43404	Missense_Mutation	SNP	ENST00000223795.2	37	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101315	0.08731	.	.	ENSG00000106952	ENST00000223795	D	0.95069	-3.6	5.78	4.88	0.63580	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.104923	0.46442	D	0.000281	D	0.85522	0.5716	N	0.12746	0.255	0.34515	D	0.707549	P	0.42785	0.79	B	0.40901	0.343	D	0.84861	0.0819	10	0.11485	T	0.65	-13.2654	7.4694	0.27340	0.0:0.7444:0.169:0.0866	.	215	P32971	TNFL8_HUMAN	N	215	ENSP00000223795:D215N	ENSP00000223795:D215N	D	-	1	0	TNFSF8	116706094	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	1.080000	0.30779	2.729000	0.93468	0.655000	0.94253	GAT		0.423	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			T	117666273	C	T	117666273	3	4	142	1	0	0	0	0	1	0	0	0	16311	913	32	2	65	2	TNFSF8	9	117666273	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	9198380	117666273	23547158	64	7820											
PARD3	56288	genome.wustl.edu	37	10	34620237	34620248	+	In_Frame_Del	DEL	GACCCAGGGAAG	GACCCAGGGAAG	-	rs372479448		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	GACCCAGGGAAG	GACCCAGGGAAG	GACCCAGGGAAG	-	GACCCAGGGAAG	GACCCAGGGAAG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr10:34620237_34620248delGACCCAGGGAAG	ENST00000374789.3	-	19	2964_2975	c.2639_2650delCTTCCCTGGGTC	c.(2638-2652)ccttccctgggtctg>ctg	p.PSLG880del	PARD3_ENST00000374776.1_In_Frame_Del_p.PSLG834del|PARD3_ENST00000374788.3_In_Frame_Del_p.PSLG877del|PARD3_ENST00000374773.1_In_Frame_Del_p.PSLG847del|PARD3_ENST00000544292.1_In_Frame_Del_p.PSLG593del|PARD3_ENST00000346874.4_In_Frame_Del_p.PSLG880del|PARD3_ENST00000545260.1_In_Frame_Del_p.PSLG790del|PARD3_ENST00000350537.4_In_Frame_Del_p.PSLG834del|PARD3_ENST00000374790.3_In_Frame_Del_p.PSLG820del|PARD3_ENST00000545693.1_In_Frame_Del_p.PSLG864del|PARD3_ENST00000374794.3_In_Frame_Del_p.PSLG805del|PARD3_ENST00000340077.5_In_Frame_Del_p.PSLG877del|PARD3_ENST00000466092.1_5'UTR	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	880	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.P880_G883del(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GACTTCTTCAGACCCAGGGAAGGACCCACATC	0.472																																																1	Deletion - In frame(1)	ovary(1)	10																																								34660254	SO:0001651	inframe_deletion	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2639_2650delCTTCCCTGGGTC	10.37:g.34620237_34620248delGACCCAGGGAAG	ENSP00000363921:p.Pro880_Gly883del		34660243	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	In_Frame_Del	DEL	ENST00000374789.3	37	CCDS7178.1																																																																																				0.472	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		-	34620248	GACCCAGGGAAG	-	34620237	7	5	142	1	0	1	0	1	0	0	0	0	11443	933	33	0	1483	0	PARD3	10	34620237	In_Frame_Del	DEL	GACCCAGGGAAG	TCGA-13-1498-01A-01W-0549-09		34620237	100914510	65	7821											
ANAPC16	119504	genome.wustl.edu	37	10	73983804	73983804	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr10:73983804G>C	ENST00000299381.4	+	2	250	c.132G>C	c.(130-132)gaG>gaC	p.E44D	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	44					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	anaphase-promoting complex (GO:0005680)|cytoplasm (GO:0005737)		p.E44D(1)		large_intestine(1)|ovary(1)	2						GAGCTGGAGAGATGTTAGAAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	10											122	118	119					10																	73983804		2203	4300	6503	73653810	SO:0001583	missense	119504			BC009530	CCDS7314.1, CCDS73147.1	10q22.2	2011-08-12	2010-04-06	2010-04-06	ENSG00000166295	ENSG00000166295		"Anaphase promoting complex subunits"	26976	protein-coding gene	gene with protein product	"centromere protein 27"	613427	"chromosome 10 open reading frame 104"	C10orf104		14702039, 20360068	Standard	NM_001242546		Approved	bA570G20.3, FLJ33728, APC16, CENP-27	uc021psp.1	Q96DE5	OTTHUMG00000018433	ENST00000299381.4:c.132G>C	10.37:g.73983804G>C	ENSP00000299381:p.Glu44Asp		73653810		Missense_Mutation	SNP	ENST00000299381.4	37	CCDS7314.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099916	0.37048	.	.	ENSG00000166295	ENST00000299381	.	.	.	6.02	2.84	0.33178	.	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	N	0.08118	0	0.58432	D	0.999991	B	0.20261	0.043	B	0.14023	0.01	T	0.10989	-1.0606	9	0.87932	D	0	.	7.7891	0.29110	0.408:0.0:0.592:0.0	.	44	Q96DE5	APC16_HUMAN	D	44	.	ENSP00000299381:E44D	E	+	3	2	ANAPC16	73653810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.623000	0.46435	0.886000	0.36113	-0.137000	0.14449	GAG		0.438	ANAPC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048565.2	NM_173473		C	73983804	G	C	73983804	3	2	142	1	0	0	0	0	1	0	0	0	602	933	33	3	134	3	ANAPC16	10	73983804	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	39363567	73983804	61550943	66	7822											
OLFML1	283298	genome.wustl.edu	37	11	7509633	7509633	+	Silent	SNP	T	T	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr11:7509633T>A	ENST00000329293.3	+	2	799	c.405T>A	c.(403-405)acT>acA	p.T135T	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Intron|OLFML1_ENST00000530135.1_Silent_p.T135T	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	135						extracellular region (GO:0005576)		p.T135T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGATCCGGACTCTGCTGAATG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	11											56	52	53					11																	7509633		2201	4296	6497	7466209	SO:0001819	synonymous_variant	283298			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.405T>A	11.37:g.7509633T>A			7466209	B4DP03|Q569G4	Silent	SNP	ENST00000329293.3	37	CCDS7779.1																																																																																				0.458	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		A	7509633	T	A	7509633	2	1	142	1	0	0	0	0	0	0	0	1	10856	1538	54	5		5	OLFML1	11	7509633	Silent	SNP	T	TCGA-13-1498-01A-01W-0549-09		7509633	127496883	67	7823											
LRRC4C	57689	genome.wustl.edu	37	11	40136253	40136253	+	Silent	SNP	A	A	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr11:40136253A>T	ENST00000278198.2	-	2	3553	c.1590T>A	c.(1588-1590)atT>atA	p.I530I	LRRC4C_ENST00000527150.1_Silent_p.I530I|LRRC4C_ENST00000528697.1_Silent_p.I530I|LRRC4C_ENST00000530763.1_Silent_p.I530I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	530					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.I530I(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAAAACACCCAATGATGATTT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	11											163	139	147					11																	40136253		2203	4300	6503	40092829	SO:0001819	synonymous_variant	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1590T>A	11.37:g.40136253A>T			40092829	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.473	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		T	40136253	A	T	40136253	2	4	142	1	0	0	0	0	0	0	0	1	9008	126	5	5		5	LRRC4C	11	40136253	Silent	SNP	A	TCGA-13-1498-01A-01W-0549-09	32626620	40136253	94870263	68	7824											
OR5AK2	390181	genome.wustl.edu	37	11	56757317	56757317	+	Nonstop_Mutation	SNP	A	A	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr11:56757317A>C	ENST00000326855.2	+	1	971	c.929A>C	c.(928-930)tAa>tCa	p.*310S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*310S(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTTATTTTAAATCAGCCCC	0.299																																																1	Nonstop extension(1)	ovary(1)	11											15	15	15					11																	56757317		1911	4053	5964	56513893	SO:0001578	stop_lost	390181			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.929A>C	11.37:g.56757317A>C	ENSP00000322784:p.*310Serext*6		56513893	B2RNZ9	Nonstop_Mutation	SNP	ENST00000326855.2	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	A	6.664	0.490997	0.12702	.	.	ENSG00000181273	ENST00000326855	.	.	.	4.5	0.396	0.16309	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9344	0.19156	0.5687:0.0:0.4313:0.0	.	.	.	.	S	310	.	.	X	+	2	2	OR5AK2	56513893	.	.	0.001000	0.08648	0.005000	0.04900	.	.	0.215000	0.20761	0.329000	0.21502	TAA		0.299	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		C	56757317	A	C	56757317	4	2	142	1	0	0	0	0	0	0	0	0	11142	377	13	5	931	5	OR5AK2	11	56757317	Nonstop_Mutation	SNP	A	TCGA-13-1498-01A-01W-0549-09	16621064	56757317	78249199	69	7825											
SYVN1	84447	genome.wustl.edu	37	11	64897274	64897274	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr11:64897274G>A	ENST00000377190.3	-	14	1616	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	SYVN1_ENST00000307289.6_Missense_Mutation_p.R456C|SYVN1_ENST00000526060.1_Missense_Mutation_p.R507C|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Missense_Mutation_p.R507C	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	508					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.R508C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGGATGTTACGCAGGCTCTGC	0.652																																																1	Substitution - Missense(1)	ovary(1)	11											52	56	54					11																	64897274		2201	4297	6498	64653850	SO:0001583	missense	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1522C>T	11.37:g.64897274G>A	ENSP00000366395:p.Arg508Cys		64653850	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627521	0.66901	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.12361	2.7;2.69;2.84;2.69	4.75	4.75	0.60458	.	0.147219	0.48767	D	0.000175	T	0.26702	0.0653	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.996;0.993	P;P;B	0.50754	0.649;0.649;0.446	T	0.03043	-1.1079	10	0.72032	D	0.01	-15.1207	15.2759	0.73742	0.0:0.0:1.0:0.0	.	456;507;508	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	C	508;507;508;456;507	ENSP00000366395:R508C;ENSP00000294256:R507C;ENSP00000302035:R456C;ENSP00000436984:R507C	ENSP00000294256:R507C	R	-	1	0	SYVN1	64653850	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.055000	0.93873	2.493000	0.84123	0.561000	0.74099	CGT		0.652	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		A	64897274	G	A	64897274	3	1	142	1	0	0	0	0	1	0	0	0	15487	1087	38	1	343	1	SYVN1	11	64897274	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	8139957	64897274	70109242	70	7826											
FCHSD2	9873	genome.wustl.edu	37	11	72554254	72554254	+	Silent	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr11:72554254C>T	ENST00000409418.4	-	16	2030	c.1647G>A	c.(1645-1647)acG>acA	p.T549T	FCHSD2_ENST00000311172.7_Silent_p.T493T|FCHSD2_ENST00000409314.1_Silent_p.T573T|FCHSD2_ENST00000409853.1_Silent_p.T493T|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000458644.2_Silent_p.T413T|FCHSD2_ENST00000409263.1_5'UTR	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	549								p.T493T(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AATTGCTGGACGTGTGTGACC	0.517																																																1	Substitution - coding silent(1)	ovary(1)	11											113	97	102					11																	72554254		2200	4293	6493	72231902	SO:0001819	synonymous_variant	9873			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1647G>A	11.37:g.72554254C>T			72231902	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	ENST00000409418.4	37	CCDS8218.2																																																																																				0.517	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		T	72554254	C	T	72554254	2	4	142	1	0	0	0	0	0	0	0	1	5790	523	19	1		1	FCHSD2	11	72554254	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	7656980	72554254	62452262	71	7827											
CEP57	9702	genome.wustl.edu	37	11	95564199	95564199	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr11:95564199C>A	ENST00000325542.5	+	11	1520	c.1282C>A	c.(1282-1284)Cag>Aag	p.Q428K	CEP57_ENST00000325486.5_Missense_Mutation_p.Q402K|CEP57_ENST00000537677.1_Missense_Mutation_p.Q401K|CEP57_ENST00000541150.1_Missense_Mutation_p.Q419K	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	428	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)	p.Q428K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTGGAGAAACAGAAGTTAGA	0.358									Mosaic Variegated Aneuploidy Syndrome																																							1	Substitution - Missense(1)	ovary(1)	11											47	50	49					11																	95564199		2201	4296	6497	95203847	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1282C>A	11.37:g.95564199C>A	ENSP00000317902:p.Gln428Lys		95203847	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	CCDS8304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.052|8.052	0.766179|0.766179	0.15983|0.15983	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150|ENST00000535224	T;T;T;T|.	0.29397|.	1.58;1.58;1.57;1.58|.	5.89|5.89	4.97|4.97	0.65823|0.65823	.|.	0.639319|.	0.15542|.	N|.	0.256898|.	T|T	0.60843|0.60843	0.2300|0.2300	L|L	0.50333|0.50333	1.59|1.59	0.37036|0.37036	D|D	0.896897|0.896897	B;B;P|.	0.38535|.	0.372;0.023;0.635|.	B;B;B|.	0.30855|.	0.121;0.013;0.121|.	T|T	0.62487|0.62487	-0.6844|-0.6844	10|5	0.87932|.	D|.	0|.	-18.6349|-18.6349	11.6013|11.6013	0.51003|0.51003	0.0:0.9174:0.0:0.0826|0.0:0.9174:0.0:0.0826	.|.	419;402;428|.	F5H5F7;Q86XR8-2;Q86XR8|.	.;.;CEP57_HUMAN|.	K|K	401;428;402;419|217	ENSP00000441392:Q401K;ENSP00000317902:Q428K;ENSP00000317487:Q402K;ENSP00000443436:Q419K|.	ENSP00000317487:Q402K|.	Q|T	+|+	1|2	0|0	CEP57|CEP57	95203847|95203847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	2.999000|2.999000	0.49473|0.49473	2.788000|2.788000	0.95919|0.95919	0.557000|0.557000	0.71058|0.71058	CAG|ACA		0.358	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		A	95564199	C	A	95564199	3	1	142	1	0	0	0	0	1	0	0	0	3256	479	17	3	1324	3	CEP57	11	95564199	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	23009945	95564199	39442317	72	7828											
CADM1	23705	genome.wustl.edu	37	11	115049427	115049427	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr11:115049427C>A	ENST00000452722.3	-	9	1167	c.1147G>T	c.(1147-1149)Gtg>Ttg	p.V383L	CADM1_ENST00000537058.1_Missense_Mutation_p.V394L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.V412L|CADM1_ENST00000542447.2_Missense_Mutation_p.V355L|CADM1_ENST00000536727.1_Missense_Mutation_p.V384L	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.V383L(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AACACCACCACCGCCACGACG	0.532																																																1	Substitution - Missense(1)	ovary(1)	11											138	120	126					11																	115049427		2201	4296	6497	114554637	SO:0001583	missense	23705			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1147G>T	11.37:g.115049427C>A	ENSP00000395359:p.Val383Leu		114554637		Missense_Mutation	SNP	ENST00000452722.3	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.07|16.07	3.017385|3.017385	0.54576|0.54576	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.|T;T;T;T;T	.|0.61510	.|0.1;0.1;0.1;0.1;0.1	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.71333|0.71333	0.3327|0.3327	L|L	0.60904|0.60904	1.88|1.88	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.69078	.|0.997;0.994;0.876;0.984	.|D;D;B;D	.|0.79784	.|0.993;0.97;0.412;0.935	T|T	0.64761|0.64761	-0.6331|-0.6331	5|10	.|0.16896	.|T	.|0.51	.|.	18.4828|18.4828	0.90818|0.90818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|394;356;383;355	.|F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;CADM1_HUMAN;.	V|L	353|355;383;394;384;314;412;68	.|ENSP00000439176:V355L;ENSP00000395359:V383L;ENSP00000439817:V394L;ENSP00000440322:V384L;ENSP00000329797:V412L	.|ENSP00000329797:V412L	G|V	-|-	2|1	0|0	CADM1|CADM1	114554637|114554637	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.569000|5.569000	0.67391|0.67391	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.532	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		A	115049427	C	A	115049427	3	1	142	1	0	0	0	0	1	0	0	0	2566	507	18	3	189	3	CADM1	11	115049427	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	19485228	115049427	19957089	73	7829											
SCN3B	55800	genome.wustl.edu	37	11	123508916	123508916	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr11:123508916C>T	ENST00000392770.2	-	4	1364	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	SCN3B_ENST00000299333.3_Missense_Mutation_p.E188K|SCN3B_ENST00000530277.1_Missense_Mutation_p.E188K	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	188					atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.E188K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGCCTCTTCGGCTTTTGAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											136	113	121					11																	123508916		2202	4299	6501	123014126	SO:0001583	missense	55800			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.562G>A	11.37:g.123508916C>T	ENSP00000376523:p.Glu188Lys		123014126	A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684871	0.88639	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277	D;D;D	0.96459	-4.02;-4.02;-4.02	5.7	5.7	0.88788	.	0.042915	0.85682	D	0.000000	D	0.92635	0.7660	N	0.22421	0.69	0.80722	D	1	D	0.57571	0.98	B	0.41860	0.368	D	0.91264	0.5039	10	0.20046	T	0.44	-4.591	19.8411	0.96685	0.0:1.0:0.0:0.0	.	188	Q9NY72	SCN3B_HUMAN	K	188	ENSP00000376523:E188K;ENSP00000299333:E188K;ENSP00000432785:E188K	ENSP00000299333:E188K	E	-	1	0	SCN3B	123014126	1.000000	0.71417	0.961000	0.40146	0.755000	0.42902	7.481000	0.81124	2.683000	0.91414	0.655000	0.94253	GAA		0.463	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		T	123508916	C	T	123508916	3	4	142	1	0	0	0	0	1	0	0	0	13922	893	31	1	93	1	SCN3B	11	123508916	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	8459489	123508916	11497600	74	7830											
WNK1	65125	genome.wustl.edu	37	12	988774	988774	+	Silent	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr12:988774C>A	ENST00000315939.6	+	11	3052	c.2409C>A	c.(2407-2409)ggC>ggA	p.G803G	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.G1301G|WNK1_ENST00000340908.4_Silent_p.G396G	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	803					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.G803G(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTATCCAAGGCGAACCTCAGA	0.473																																					Colon(19;451 567 6672 12618 28860)											1	Substitution - coding silent(1)	ovary(1)	12											98	90	93					12																	988774		2203	4300	6503	859035	SO:0001819	synonymous_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2409C>A	12.37:g.988774C>A			859035	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	CCDS8506.1																																																																																				0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		A	988774	C	A	988774	2	1	142	1	0	0	0	0	0	0	0	1	17377	755	27	3		3	WNK1	12	988774	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09		988774	132863121	75	7831											
ITPR2	3709	genome.wustl.edu	37	12	26564322	26564322	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr12:26564322T>A	ENST00000381340.3	-	52	7746	c.7330A>T	c.(7330-7332)Act>Tct	p.T2444S	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2444					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.T2444S(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTAGTTAAAGTCATAGTAGGC	0.373																																																1	Substitution - Missense(1)	ovary(1)	12											125	112	116					12																	26564322		1878	4106	5984	26455589	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7330A>T	12.37:g.26564322T>A	ENSP00000370744:p.Thr2444Ser		26455589	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	2.624	-0.287970	0.05605	.	.	ENSG00000123104	ENST00000381340	D	0.90955	-2.76	5.3	5.3	0.74995	Ion transport (1);	0.203100	0.40908	D	0.000986	T	0.77532	0.4144	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.73199	-0.4058	10	0.09338	T	0.73	.	14.1294	0.65242	0.0:0.0:0.0:1.0	.	2444	Q14571	ITPR2_HUMAN	S	2444	ENSP00000370744:T2444S	ENSP00000370744:T2444S	T	-	1	0	ITPR2	26455589	1.000000	0.71417	0.544000	0.28141	0.218000	0.24690	4.728000	0.62000	2.133000	0.65898	0.477000	0.44152	ACT		0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26564322	T	A	26564322	3	1	142	1	0	0	0	0	1	0	0	0	7921	1667	58	5	799	5	ITPR2	12	26564322	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	25575548	26564322	107287573	76	7832											
KIF21A	55605	genome.wustl.edu	37	12	39703478	39703478	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr12:39703478C>T	ENST00000361418.5	-	33	4202	c.4187G>A	c.(4186-4188)tGt>tAt	p.C1396Y	KIF21A_ENST00000395670.3_Missense_Mutation_p.C1397Y|KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000361961.3_Missense_Mutation_p.C1383Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.C1359Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.C1343Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1396					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C1383Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGTATAATTACAGTATTTTAC	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											98	91	94					12																	39703478		2203	4300	6503	37989745	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4187G>A	12.37:g.39703478C>T	ENSP00000354878:p.Cys1396Tyr		37989745	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.28|16.28	3.078689|3.078689	0.55753|0.55753	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T;T|.	0.80909|.	-1.43;-1.43;-1.43;-0.45;-1.43;-0.02|.	5.39|5.39	4.5|4.5	0.54988|0.54988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000020|.	T|T	0.62171|0.62171	0.2406|0.2406	L|L	0.49699|0.49699	1.58|1.58	0.44611|0.44611	D|D	0.99758|0.99758	D;B;D;D;D;D|.	0.76494|.	0.969;0.001;0.985;0.999;0.997;0.991|.	P;B;P;D;D;P|.	0.83275|.	0.558;0.003;0.845;0.996;0.916;0.861|.	T|T	0.59815|0.59815	-0.7383|-0.7383	10|5	0.72032|.	D|.	0.01|.	.|.	14.1475|14.1475	0.65360|0.65360	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	1359;1343;1396;1383;1349;383|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	Y|I	1383;1397;1349;383;377;1359;1396;1343|697	ENSP00000354851:C1383Y;ENSP00000379029:C1397Y;ENSP00000448792:C377Y;ENSP00000445606:C1359Y;ENSP00000354878:C1396Y;ENSP00000438075:C1343Y|.	ENSP00000344501:C1349Y|.	C|V	-|-	2|1	0|0	KIF21A|KIF21A	37989745|37989745	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.294000|0.294000	0.27393|0.27393	4.785000|4.785000	0.62418|0.62418	1.279000|1.279000	0.44446|0.44446	0.650000|0.650000	0.86243|0.86243	TGT|GTA		0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		T	39703478	C	T	39703478	3	4	142	1	0	0	0	0	1	0	0	0	8288	478	17	2	861	2	KIF21A	12	39703478	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	13139156	39703478	94148417	77	7833											
SFRS2IP	9169	genome.wustl.edu	37	12	46321679	46321679	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr12:46321679G>C	ENST00000369367.3	-	11	2038	c.1805C>G	c.(1804-1806)aCa>aGa	p.T602R	SCAF11_ENST00000549162.1_Missense_Mutation_p.T410R|SCAF11_ENST00000419565.2_Missense_Mutation_p.T602R|SCAF11_ENST00000465950.1_Missense_Mutation_p.T287R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	602					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T602R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AAGCTCCTCTGTTTTTAGTGT	0.368																																																1	Substitution - Missense(1)	ovary(1)	12											57	61	59					12																	46321679		2170	4290	6460	44607946	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1805C>G	12.37:g.46321679G>C	ENSP00000358374:p.Thr602Arg		44607946	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	6.544	0.468576	0.12461	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.44482	1.52;2.26;1.52;2.26;0.92	5.54	-4.2	0.03823	.	0.901452	0.09553	N	0.786608	T	0.30008	0.0751	L	0.50333	1.59	0.20074	N	0.999932	P;B	0.45078	0.85;0.183	B;B	0.40285	0.325;0.054	T	0.32508	-0.9904	10	0.15066	T	0.55	-0.0773	8.5865	0.33662	0.1304:0.0:0.6006:0.269	.	410;602	F8VXG7;Q99590	.;SCAFB_HUMAN	R	287;602;410;602;542	ENSP00000449812:T287R;ENSP00000358374:T602R;ENSP00000448864:T410R;ENSP00000413036:T602R;ENSP00000446746:T542R	ENSP00000358374:T602R	T	-	2	0	SCAF11	44607946	0.000000	0.05858	0.365000	0.25901	0.570000	0.35934	-1.532000	0.02217	-0.520000	0.06435	-0.367000	0.07326	ACA		0.368	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		C	46321679	G	C	46321679	3	2	142	1	0	0	0	0	1	0	0	0	14180	1377	48	3	2606	3	SFRS2IP	12	46321679	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	6618201	46321679	87530216	78	7834											
IKZF4	64375	genome.wustl.edu	37	12	56428533	56428533	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr12:56428533C>G	ENST00000262032.5	+	12	1543	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	IKZF4_ENST00000431367.2_Missense_Mutation_p.I290M|IKZF4_ENST00000547791.1_Missense_Mutation_p.I347M|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.I392M			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	392					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I351M(1)|p.I392M(1)		NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCAATTGCATCTCAGAACTCA	0.602																																																2	Substitution - Missense(2)	ovary(2)	12											105	103	104					12																	56428533		2047	4220	6267	54714800	SO:0001583	missense	64375			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1176C>G	12.37:g.56428533C>G	ENSP00000262032:p.Ile392Met		54714800	Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330673	0.24167	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.07688	3.17;3.17;3.17;3.18	4.61	3.72	0.42706	.	0.000000	0.49916	D	0.000139	T	0.10937	0.0267	N	0.21282	0.65	0.33681	D	0.612129	P;D;P;D	0.58268	0.935;0.982;0.935;0.969	P;P;P;P	0.56788	0.52;0.644;0.52;0.806	T	0.16364	-1.0405	10	0.46703	T	0.11	-13.5356	8.2572	0.31763	0.0:0.8157:0.0:0.1843	.	290;347;351;392	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	M	392;290;392;347	ENSP00000262032:I392M;ENSP00000412101:I290M;ENSP00000448419:I392M;ENSP00000450020:I347M	ENSP00000262032:I392M	I	+	3	3	IKZF4	54714800	0.007000	0.16637	1.000000	0.80357	0.974000	0.67602	-0.142000	0.10311	1.296000	0.44742	0.462000	0.41574	ATC		0.602	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		G	56428533	C	G	56428533	3	3	142	1	0	0	0	0	1	0	0	0	7617	903	32	3	1206	3	IKZF4	12	56428533	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	10106854	56428533	77423362	79	7835											
HAL	3034	genome.wustl.edu	37	12	96370402	96370402	+	Silent	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr12:96370402G>A	ENST00000261208.3	-	19	2105	c.1737C>T	c.(1735-1737)gtC>gtT	p.V579V	HAL_ENST00000541929.1_Silent_p.V371V|HAL_ENST00000538703.1_Silent_p.V579V	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	579					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.V579V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CCAGGTCATAGACCTTCTCCA	0.498																																					NSCLC(169;943 2815 23563 30031)											1	Substitution - coding silent(1)	ovary(1)	12											96	92	94					12																	96370402		2203	4300	6503	94894533	SO:0001819	synonymous_variant	3034				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1737C>T	12.37:g.96370402G>A			94894533	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Silent	SNP	ENST00000261208.3	37	CCDS9058.1																																																																																				0.498	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			A	96370402	G	A	96370402	2	1	142	1	0	0	0	0	0	0	0	1	6947	929	33	2		2	HAL	12	96370402	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	39941869	96370402	37481493	80	7836											
TCP11L2	255394	genome.wustl.edu	37	12	106715367	106715367	+	Missense_Mutation	SNP	T	T	C	rs552042741		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr12:106715367T>C	ENST00000299045.3	+	5	692	c.518T>C	c.(517-519)gTt>gCt	p.V173A	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V173A|TCP11L2_ENST00000546625.1_Missense_Mutation_p.V173A	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	173								p.V173A(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CACAGTGCTGTTGACATCCAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											128	114	119					12																	106715367		2203	4300	6503	105239497	SO:0001583	missense	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.518T>C	12.37:g.106715367T>C	ENSP00000299045:p.Val173Ala		105239497	B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.027255	0.93518	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.50919	1.6	0.80722	D	1	D;P;D	0.69078	0.989;0.917;0.997	D;P;D	0.65987	0.94;0.693;0.921	T	0.00525	-1.1689	10	0.40728	T	0.16	-17.3954	16.6288	0.85011	0.0:0.0:0.0:1.0	.	173;173;173	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	A	173	ENSP00000448952:V173A;ENSP00000299045:V173A;ENSP00000449123:V173A;ENSP00000448629:V173A	ENSP00000299045:V173A	V	+	2	0	TCP11L2	105239497	1.000000	0.71417	0.929000	0.37066	0.997000	0.91878	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	GTT		0.507	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		C	106715367	T	C	106715367	3	2	142	1	0	0	0	0	1	0	0	0	15715	1725	60	4	532	4	TCP11L2	12	106715367	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	10344965	106715367	27136528	81	7837											
TMEM132D	121256	genome.wustl.edu	37	12	129566556	129566556	+	Silent	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr12:129566556C>T	ENST00000422113.2	-	7	1997	c.1671G>A	c.(1669-1671)gaG>gaA	p.E557E	TMEM132D_ENST00000389441.4_Silent_p.E95E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	557					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E557E(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CATCCTCCTCCTCTTCACTGT	0.642																																																1	Substitution - coding silent(1)	ovary(1)	12											46	49	48					12																	129566556		2203	4300	6503	128132509	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1671G>A	12.37:g.129566556C>T			128132509	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129566556	C	T	129566556	2	4	142	1	0	0	0	0	0	0	0	1	16047	680	24	2		2	TMEM132D	12	129566556	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	22851189	129566556	4285339	82	7838											
FAM123A	219287	genome.wustl.edu	37	13	25743799	25743799	+	Silent	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr13:25743799G>T	ENST00000515384.1	-	1	2626	c.1959C>A	c.(1957-1959)ggC>ggA	p.G653G	AMER2_ENST00000381853.3_Silent_p.G534G|AMER2_ENST00000357816.2_Silent_p.G534G			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	653					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G534G(1)									TCCCAGCCAAGCCCCGGTTGC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	13											56	60	59					13																	25743799		2203	4300	6503	24641799	SO:0001819	synonymous_variant	219287			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1959C>A	13.37:g.25743799G>T			24641799	Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	CCDS53859.1																																																																																				0.587	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		T	25743799	G	T	25743799	2	4	142	1	0	0	0	0	0	0	0	1	5422	958	34	3		3	FAM123A	13	25743799	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09		25743799	89426079	83	7839											
DCLK1	9201	genome.wustl.edu	37	13	36384981	36384981	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr13:36384981G>A	ENST00000360631.3	-	12	1890	c.1679C>T	c.(1678-1680)gCa>gTa	p.A560V	DCLK1_ENST00000379893.1_Missense_Mutation_p.A253V|DCLK1_ENST00000255448.4_Missense_Mutation_p.A560V			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	560	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.A560V(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCCAGTCTCTGCAATGATTTC	0.478																																																1	Substitution - Missense(1)	ovary(1)	13											176	180	179					13																	36384981		2203	4300	6503	35282981	SO:0001583	missense	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1679C>T	13.37:g.36384981G>A	ENSP00000353846:p.Ala560Val		35282981	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	G	25.1	4.599055	0.87055	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.65732	-0.17;-0.17;-0.17	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062466	0.64402	D	0.000003	T	0.68348	0.2991	L	0.28192	0.835	0.80722	D	1	B;D;D;B	0.59767	0.338;0.977;0.986;0.338	B;P;P;B	0.62560	0.281;0.904;0.885;0.209	T	0.72064	-0.4403	10	0.66056	D	0.02	.	19.0516	0.93049	0.0:0.0:1.0:0.0	.	253;560;560;253	O15075-4;O15075;O15075-2;O15075-3	.;DCLK1_HUMAN;.;.	V	252;560;560;253;542	ENSP00000255448:A560V;ENSP00000353846:A560V;ENSP00000369223:A253V	ENSP00000255448:A560V	A	-	2	0	DCLK1	35282981	1.000000	0.71417	0.996000	0.52242	0.341000	0.28922	7.362000	0.79507	2.572000	0.86782	0.655000	0.94253	GCA		0.478	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		A	36384981	G	A	36384981	3	1	142	1	0	0	0	0	1	0	0	0	4291	1319	46	2	538	2	DCLK1	13	36384981	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	10641182	36384981	78784897	84	7840											
SLC10A2	6555	genome.wustl.edu	37	13	103718247	103718247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr13:103718247C>T	ENST00000245312.3	-	1	949	c.353G>A	c.(352-354)tGg>tAg	p.W118*		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	118					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.W118*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GCCATCGACCCAATAGGCCAA	0.502																																																1	Substitution - Nonsense(1)	ovary(1)	13											85	81	82					13																	103718247		2203	4300	6503	102516248	SO:0001587	stop_gained	6555			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.353G>A	13.37:g.103718247C>T	ENSP00000245312:p.Trp118*		102516248	A1L4F4|Q13839	Nonsense_Mutation	SNP	ENST00000245312.3	37	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	43	10.345394	0.99388	.	.	ENSG00000125255	ENST00000245312	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4014	18.848	0.92215	0.0:1.0:0.0:0.0	.	.	.	.	X	118	.	ENSP00000245312:W118X	W	-	2	0	SLC10A2	102516248	1.000000	0.71417	0.995000	0.50966	0.881000	0.50899	6.067000	0.71193	2.451000	0.82905	0.655000	0.94253	TGG		0.502	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			T	103718247	C	T	103718247	4	4	142	1	0	0	0	0	0	1	0	0	14377	595	21	2	717	2	SLC10A2	13	103718247	Nonsense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	67333266	103718247	11451631	85	7841											
FLRT2	23768	genome.wustl.edu	37	14	86089004	86089004	+	Silent	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr14:86089004G>A	ENST00000330753.4	+	2	1913	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q	FLRT2_ENST00000554746.1_Silent_p.Q382Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	382					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.Q382Q(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGACCACTCAGCCTCCCACCC	0.547																																																1	Substitution - coding silent(1)	ovary(1)	14											84	88	87					14																	86089004		2203	4300	6503	85158757	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1146G>A	14.37:g.86089004G>A			85158757	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.547	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			A	86089004	G	A	86089004	2	1	142	1	0	0	0	0	0	0	0	1	5939	962	34	2		2	FLRT2	14	86089004	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09		86089004	21260536	86	7842											
MAP1A	4130	genome.wustl.edu	37	15	43820357	43820357	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr15:43820357C>T	ENST00000300231.5	+	4	7136	c.6686C>T	c.(6685-6687)tCa>tTa	p.S2229L	MAP1A_ENST00000399453.1_Missense_Mutation_p.S2229L|MAP1A_ENST00000382031.1_Missense_Mutation_p.S2467L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2229					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.S2229L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGGATTCCTCACTGCCCCAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	15											80	87	85					15																	43820357		1905	4109	6014	41607649	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6686C>T	15.37:g.43820357C>T	ENSP00000300231:p.Ser2229Leu		41607649	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356654	0.41801	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02525	4.26;4.27;4.27	4.56	4.56	0.56223	.	0.000000	0.29087	N	0.013195	T	0.07188	0.0182	L	0.36672	1.1	0.41900	D	0.99041	D	0.54964	0.969	P	0.55087	0.768	T	0.22243	-1.0222	10	0.87932	D	0	-8.0352	15.6918	0.77461	0.0:1.0:0.0:0.0	.	2229	P78559	MAP1A_HUMAN	L	2467;2229;2229	ENSP00000371462:S2467L;ENSP00000382380:S2229L;ENSP00000300231:S2229L	ENSP00000300231:S2229L	S	+	2	0	MAP1A	41607649	0.994000	0.37717	0.916000	0.36221	0.948000	0.59901	3.387000	0.52501	2.359000	0.80004	0.561000	0.74099	TCA		0.632	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43820357	C	T	43820357	3	4	142	1	0	0	0	0	1	0	0	0	9227	838	29	2	6688	2	MAP1A	15	43820357	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09		43820357	58711035	87	7843											
FBN1	2200	genome.wustl.edu	37	15	48713002	48713002	+	Splice_Site	SNP	G	G	A	rs368054842		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr15:48713002G>A	ENST00000316623.5	-	63	8156	c.7701C>T	c.(7699-7701)gaC>gaT	p.D2567D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2567	EGF-like 45; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D2567D(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTCGTCCACGTCTGAAAAAG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	15						G		1,4395	2.1+/-5.4	0,1,2197	62	56	58		7701	-1.5	1	15		58	0,8592		0,0,4296	no	coding-synonymous-near-splice	FBN1	NM_000138.4		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		2567/2872	48713002	1,12987	2198	4296	6494	46500294	SO:0001630	splice_region_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7700-1C>T	15.37:g.48713002G>A			46500294	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.537	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Silent	A	48713002	G	A	48713002	5	1	142	1	0	0	0	0	0	0	1	0	5702	1159	40	1	930	1	FBN1	15	48713002	Splice_Site	SNP	G	TCGA-13-1498-01A-01W-0549-09	4892645	48713002	53818390	88	7844											
SCG3	29106	genome.wustl.edu	37	15	51973988	51973988	+	Silent	SNP	G	G	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr15:51973988G>C	ENST00000220478.3	+	1	439	c.36G>C	c.(34-36)gtG>gtC	p.V12V	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	12					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.V12V(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GGATTCTGGTGTTAGTGCTCC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	15											114	94	100					15																	51973988		2195	4293	6488	49761280	SO:0001819	synonymous_variant	29106			AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.36G>C	15.37:g.51973988G>C			49761280	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	CCDS10142.1																																																																																				0.527	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		C	51973988	G	C	51973988	2	2	142	1	0	0	0	0	0	0	0	1	13895	1364	48	3		3	SCG3	15	51973988	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09	3260986	51973988	50557404	89	7845											
MYO5C	55930	genome.wustl.edu	37	15	52571799	52571799	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr15:52571799C>T	ENST00000261839.7	-	3	372	c.211G>A	c.(211-213)Gac>Aac	p.D71N	MYO5C_ENST00000443683.2_5'UTR|MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	71	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D71N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCCGTGAGGTCATTCTCGCCC	0.483																																																1	Substitution - Missense(1)	ovary(1)	15											70	69	69					15																	52571799		1907	4124	6031	50359091	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.211G>A	15.37:g.52571799C>T	ENSP00000261839:p.Asp71Asn		50359091	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	36	5.843139	0.97016	.	.	ENSG00000128833	ENST00000261839;ENST00000541028	D	0.98345	-4.88	5.88	5.88	0.94601	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	M	0.90759	3.145	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.91635	0.999;0.994	D	0.99246	1.0886	10	0.59425	D	0.04	.	20.2366	0.98359	0.0:1.0:0.0:0.0	.	34;71	F5H231;Q9NQX4	.;MYO5C_HUMAN	N	71;34	ENSP00000261839:D71N	ENSP00000261839:D71N	D	-	1	0	MYO5C	50359091	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.794000	0.85869	2.792000	0.96026	0.557000	0.71058	GAC		0.483	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		T	52571799	C	T	52571799	3	4	142	1	0	0	0	0	1	0	0	0	10080	826	29	2	5173	2	MYO5C	15	52571799	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	597811	52571799	49959593	90	7846											
ZSCAN10	84891	genome.wustl.edu	37	16	3142122	3142122	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr16:3142122T>C	ENST00000252463.2	-	2	514	c.427A>G	c.(427-429)Agg>Ggg	p.R143G	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000572548.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	143	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R143G(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGGGGAAGCCTCCACTGTCCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	16											25	29	28					16																	3142122		2197	4300	6497	3082123	SO:0001583	missense	84891			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.427A>G	16.37:g.3142122T>C	ENSP00000252463:p.Arg143Gly		3082123	B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236975	0.39498	.	.	ENSG00000130182	ENST00000252463	T	0.06218	3.33	5.05	5.05	0.67936	.	0.791335	0.11039	N	0.606322	T	0.04815	0.0130	N	0.14661	0.345	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.44097	-0.9350	10	0.25106	T	0.35	-1.4308	11.1882	0.48669	0.0:0.0:0.0:1.0	.	143	Q96SZ4	ZSC10_HUMAN	G	143	ENSP00000252463:R143G	ENSP00000252463:R143G	R	-	1	2	ZSCAN10	3082123	0.145000	0.22656	0.930000	0.37139	0.479000	0.33129	0.337000	0.19841	1.923000	0.55706	0.459000	0.35465	AGG		0.642	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		C	3142122	T	C	3142122	3	2	142	1	0	0	0	0	1	0	0	0	18227	1550	54	4	1766	4	ZSCAN10	16	3142122	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09		3142122	87212631	91	7847											
PLCG2	5336	genome.wustl.edu	37	16	81971416	81971416	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr16:81971416T>G	ENST00000359376.3	+	28	3320	c.3106T>G	c.(3106-3108)Tac>Gac	p.Y1036D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1036	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Y1036D(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCGCACGGGCTACGTTCTGCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	16											105	104	105					16																	81971416		2135	4241	6376	80528917	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3106T>G	16.37:g.81971416T>G	ENSP00000352336:p.Tyr1036Asp		80528917	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709907	0.68730	.	.	ENSG00000197943	ENST00000359376	T	0.72835	-0.69	5.42	5.42	0.78866	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	H	0.98754	4.32	0.80722	D	1	B	0.31611	0.331	B	0.39503	0.301	D	0.88608	0.3154	10	0.87932	D	0	.	15.4811	0.75528	0.0:0.0:0.0:1.0	.	1036	P16885	PLCG2_HUMAN	D	1036	ENSP00000352336:Y1036D	ENSP00000352336:Y1036D	Y	+	1	0	PLCG2	80528917	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.489000	0.81451	2.064000	0.61679	0.459000	0.35465	TAC		0.522	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			G	81971416	T	G	81971416	3	3	142	1	0	0	0	0	1	0	0	0	12036	1522	53	5	3212	5	PLCG2	16	81971416	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	78829294	81971416	8383337	92	7848											
PELP1	27043	genome.wustl.edu	37	17	4577907	4577907	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr17:4577907G>T	ENST00000574876.1	-	13	1497	c.1480C>A	c.(1480-1482)Ccc>Acc	p.P494T	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Missense_Mutation_p.P492T|PELP1_ENST00000436683.2_Missense_Mutation_p.P347T|PELP1_ENST00000301396.4_Missense_Mutation_p.P638T|PELP1_ENST00000572293.1_Missense_Mutation_p.P544T			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	494					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.P544T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGCTTCTTGGGGGCGCTAGGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	17											38	41	40					17																	4577907		1923	4133	6056	4524656	SO:0001583	missense	27043				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1480C>A	17.37:g.4577907G>T	ENSP00000461625:p.Pro494Thr		4524656	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523149	0.44866	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.44083	0.94;0.93;1.58	5.35	5.35	0.76521	.	0.130444	0.50627	D	0.000110	T	0.46870	0.1415	N	0.14661	0.345	0.40381	D	0.979443	D;D	0.76494	0.999;0.997	D;D	0.78314	0.991;0.915	T	0.49214	-0.8963	10	0.48119	T	0.1	-24.4311	14.4215	0.67187	0.0:0.0:1.0:0.0	.	347;494	E7EV54;Q8IZL8	.;PELP1_HUMAN	T	638;492;347	ENSP00000301396:P638T;ENSP00000269230:P492T;ENSP00000416231:P347T	ENSP00000269230:P492T	P	-	1	0	AC091153.1	4524656	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.069000	0.71209	2.781000	0.95711	0.655000	0.94253	CCC		0.592	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		T	4577907	G	T	4577907	3	4	142	1	0	0	0	0	1	0	0	0	11725	1232	43	3	1932	3	PELP1	17	4577907	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09		4577907	76617303	93	7849											
TP53	7157	genome.wustl.edu	37	17	7574034	7574034	+	Splice_Site	SNP	C	C	T	rs587782272		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr17:7574034C>T	ENST00000269305.4	-	10	1183		c.e10-1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site	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						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.?(9)|p.0?(8)|p.I332fs*49(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)	GCCCACGGATCTGCAGCAACA	0.512		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"	18	Unknown(9)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|stomach(1)|breast(1)|ovary(1)	17	GRCh37	CS002470|CS033842	TP53	S							44	36	39					17																	7574034		2203	4300	6503	7514759	SO:0001630	splice_region_variant	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.994-1G>A	17.37:g.7574034C>T			7514759	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174851	0.38413	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4323	0.83853	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514759	1.000000	0.71417	0.997000	0.53966	0.143000	0.21401	6.410000	0.73294	2.549000	0.85964	0.561000	0.74099	.		0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7574034	C	T	7574034	5	4	142	1	0	0	0	0	0	0	1	0	16381	927	32	2	196	2	TP53	17	7574034	Splice_Site	SNP	C	TCGA-13-1498-01A-01W-0549-09	2996127	7574034	73621176	94	7850											
MYH3	4621	genome.wustl.edu	37	17	10545863	10545863	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr17:10545863C>T	ENST00000583535.1	-	16	1846	c.1759G>A	c.(1759-1761)Gtg>Atg	p.V587M	MYH3_ENST00000226209.7_Missense_Mutation_p.V587M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	587	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.V587M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTAGTCCACGGTGCCCGCA	0.547																																																1	Substitution - Missense(1)	ovary(1)	17											164	158	160					17																	10545863		2203	4300	6503	10486588	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1759G>A	17.37:g.10545863C>T	ENSP00000464317:p.Val587Met		10486588	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972511	0.74246	.	.	ENSG00000109063	ENST00000226209	D	0.93953	-3.32	4.86	3.89	0.44902	Myosin head, motor domain (2);	.	.	.	.	D	0.98346	0.9451	H	0.99881	4.885	0.41375	D	0.987516	D	0.76494	0.999	D	0.70227	0.968	D	0.98760	1.0724	9	0.87932	D	0	.	13.4975	0.61434	0.0:0.9245:0.0:0.0755	.	587	P11055	MYH3_HUMAN	M	587	ENSP00000226209:V587M	ENSP00000226209:V587M	V	-	1	0	MYH3	10486588	1.000000	0.71417	0.993000	0.49108	0.745000	0.42441	7.651000	0.83577	1.416000	0.47057	0.650000	0.86243	GTG		0.547	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		T	10545863	C	T	10545863	3	4	142	1	0	0	0	0	1	0	0	0	10036	536	19	1	4167	1	MYH3	17	10545863	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	2971829	10545863	70649347	95	7851											
HAP1	9001	genome.wustl.edu	37	17	39881248	39881248	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr17:39881248G>C	ENST00000310778.5	-	12	1730	c.1721C>G	c.(1720-1722)gCt>gGt	p.A574G	HAP1_ENST00000341193.5_Missense_Mutation_p.A505G|HAP1_ENST00000393939.2_Missense_Mutation_p.A497G|HAP1_ENST00000347901.4_Missense_Mutation_p.A522G|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	574	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.A522G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCTTCCTCAGCCGGCACCTT	0.632																																																1	Substitution - Missense(1)	ovary(1)	17											236	228	231					17																	39881248		2203	4300	6503	37134774	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1721C>G	17.37:g.39881248G>C	ENSP00000309392:p.Ala574Gly		37134774	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	G	13.75	2.329208	0.41197	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.38077	1.16;2.93;3.22;3.03;2.94	4.14	3.13	0.36017	.	0.370487	0.19922	N	0.103074	T	0.33059	0.0850	L	0.29908	0.895	0.09310	N	1	D;D;P;P	0.56035	0.974;0.974;0.932;0.888	P;P;B;B	0.49502	0.613;0.513;0.301;0.158	T	0.09037	-1.0693	10	0.46703	T	0.11	-0.869	10.9717	0.47442	0.0:0.0:0.8117:0.1883	.	497;505;522;574	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	G	29;497;574;522;505	ENSP00000404640:A29G;ENSP00000377513:A497G;ENSP00000309392:A574G;ENSP00000334002:A522G;ENSP00000343170:A505G	ENSP00000309392:A574G	A	-	2	0	HAP1	37134774	0.021000	0.18746	0.002000	0.10522	0.019000	0.09904	2.406000	0.44557	1.041000	0.40125	0.511000	0.50034	GCT		0.632	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		C	39881248	G	C	39881248	3	2	142	1	0	0	0	0	1	0	0	0	6953	971	34	3	298	3	HAP1	17	39881248	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	29335385	39881248	41313962	96	7852											
NOL4	8715	genome.wustl.edu	37	18	31685025	31685025	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	G	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr18:31685025T>G	ENST00000261592.5	-	3	811	c.514A>C	c.(514-516)Aca>Cca	p.T172P	NOL4_ENST00000535475.1_Missense_Mutation_p.T17P|NOL4_ENST00000269185.4_Missense_Mutation_p.T58P|NOL4_ENST00000589544.1_Missense_Mutation_p.T172P|NOL4_ENST00000538587.1_Missense_Mutation_p.T98P	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	172						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.T172P(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTATGATCTGTTCCATCTGGG	0.378																																																1	Substitution - Missense(1)	ovary(1)	18											178	163	168					18																	31685025		2203	4300	6503	29939023	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.514A>C	18.37:g.31685025T>G	ENSP00000261592:p.Thr172Pro		29939023	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899720	0.33535	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535475;ENST00000538587	.	.	.	5.51	2.88	0.33553	.	0.170048	0.41294	D	0.000914	T	0.17662	0.0424	N	0.03608	-0.345	0.32972	D	0.522491	B;B;B;B;B	0.25609	0.019;0.039;0.045;0.13;0.13	B;B;B;B;B	0.28139	0.039;0.086;0.062;0.086;0.086	T	0.09530	-1.0670	9	0.36615	T	0.2	-6.5026	4.7322	0.12970	0.0:0.3998:0.0:0.6002	.	58;98;172;172;17	B4DLW2;B4DSQ0;O94818;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.	P	172;58;17;98	.	ENSP00000261592:T172P	T	-	1	0	NOL4	29939023	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.363000	0.44178	1.037000	0.40024	0.533000	0.62120	ACA		0.378	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		G	31685025	T	G	31685025	3	3	142	1	0	0	0	0	1	0	0	0	10524	1725	60	5	1438	5	NOL4	18	31685025	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09		31685025	46392223	97	7853											
INSR	3643	genome.wustl.edu	37	19	7117339	7117339	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr19:7117339C>A	ENST00000302850.5	-	22	4019	c.3877G>T	c.(3877-3879)Gac>Tac	p.D1293Y	INSR_ENST00000341500.5_Missense_Mutation_p.D1281Y	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.D1293Y(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGGTGCAGGTCGTCCTTGAGC	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											122	112	115					19																	7117339		2203	4300	6503	7068339	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3877G>T	19.37:g.7117339C>A	ENSP00000303830:p.Asp1293Tyr		7068339	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738489	0.49045	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.76578	-1.03;-1.02	4.99	3.96	0.45880	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132610	0.33144	N	0.005223	T	0.60521	0.2275	N	0.13272	0.32	0.58432	D	0.999997	P;B	0.35456	0.502;0.194	B;B	0.32149	0.141;0.045	T	0.65380	-0.6182	10	0.87932	D	0	.	11.1676	0.48552	0.0:0.9109:0.0:0.0891	.	1281;1293	P06213-2;P06213	.;INSR_HUMAN	Y	1293;1281	ENSP00000303830:D1293Y;ENSP00000342838:D1281Y	ENSP00000303830:D1293Y	D	-	1	0	INSR	7068339	1.000000	0.71417	0.986000	0.45419	0.947000	0.59692	4.473000	0.60196	1.328000	0.45358	0.563000	0.77884	GAC		0.562	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7117339	C	A	7117339	3	1	142	1	0	0	0	0	1	0	0	0	7773	884	31	3	275	3	INSR	19	7117339	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09		7117339	52011644	98	7854											
NCAN	1463	genome.wustl.edu	37	19	19349115	19349115	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr19:19349115T>A	ENST00000252575.6	+	11	3403	c.3304T>A	c.(3304-3306)Tat>Aat	p.Y1102N	NCAN_ENST00000538881.1_Missense_Mutation_p.Y553N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1102	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.Y1102N(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTGTTACCGCTATTTTGCCCA	0.647																																																1	Substitution - Missense(1)	ovary(1)	19											56	59	58					19																	19349115		2203	4300	6503	19210115	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3304T>A	19.37:g.19349115T>A	ENSP00000252575:p.Tyr1102Asn		19210115	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.013636	0.75161	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.17854	2.25;2.25	4.75	3.74	0.42951	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.36268	N	0.002695	T	0.36717	0.0977	M	0.70595	2.14	0.47153	D	0.99933	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.07195	-1.0785	10	0.62326	D	0.03	.	8.1981	0.31409	0.0:0.0946:0.0:0.9054	.	1116;1102	Q4LE67;O14594	.;NCAN_HUMAN	N	1116;1102;553	ENSP00000252575:Y1102N;ENSP00000442202:Y553N	ENSP00000252575:Y1102N	Y	+	1	0	NCAN	19210115	0.999000	0.42202	0.349000	0.25694	0.954000	0.61252	3.239000	0.51360	0.864000	0.35578	0.459000	0.35465	TAT		0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19349115	T	A	19349115	3	1	142	1	0	0	0	0	1	0	0	0	10204	1522	53	5	3342	5	NCAN	19	19349115	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	12231776	19349115	39779868	99	7855											
NPHS1	4868	genome.wustl.edu	37	19	36333452	36333452	+	Splice_Site	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr19:36333452C>A	ENST00000378910.5	-	18	2334	c.2335G>T	c.(2335-2337)Gga>Tga	p.G779*	NPHS1_ENST00000353632.6_Splice_Site_p.G779*	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	779	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.G779*(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCATCTTCTCCCTGGAGGCCC	0.572																																																1	Substitution - Nonsense(1)	ovary(1)	19											61	62	62					19																	36333452		2203	4300	6503	41025292	SO:0001630	splice_region_variant	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2335-1G>T	19.37:g.36333452C>A			41025292	A6NDH2|C3RX61	Nonsense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	41	8.745354	0.98937	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	.	.	.	4.46	4.46	0.54185	.	0.131674	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-6.8332	12.5556	0.56252	0.0:1.0:0.0:0.0	.	.	.	.	X	779	.	ENSP00000343634:G779X	G	-	1	0	NPHS1	41025292	1.000000	0.71417	0.957000	0.39632	0.964000	0.63967	5.249000	0.65427	2.333000	0.79357	0.558000	0.71614	GGA		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		Nonsense_Mutation	A	36333452	C	A	36333452	5	1	142	1	0	0	0	0	0	0	1	0	10582	637	22	3	1438	3	NPHS1	19	36333452	Splice_Site	SNP	C	TCGA-13-1498-01A-01W-0549-09	16984337	36333452	22795531	100	7856											
ZNF527	84503	genome.wustl.edu	37	19	37879442	37879449	+	Frame_Shift_Del	DEL	AATTTAGT	AATTTAGT	-			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	AATTTAGT	AATTTAGT	AATTTAGT	-	AATTTAGT	AATTTAGT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr19:37879442_37879449delAATTTAGT	ENST00000436120.2	+	5	598_605	c.491_498delAATTTAGT	c.(490-498)gaatttagtfs	p.EFS164fs	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S166fs*24(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGACAATGAATTTAGTAATTCTGGGA	0.356																																																1	Deletion - Frameshift(1)	ovary(1)	19																																								42571289	SO:0001589	frameshift_variant	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.491_498delAATTTAGT	19.37:g.37879442_37879449delAATTTAGT	ENSP00000390179:p.Glu164fs		42571282	B4DVL5	Frame_Shift_Del	DEL	ENST00000436120.2	37	CCDS42559.1																																																																																				0.356	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		-	37879449	AATTTAGT	-	37879442	7	5	142	1	0	1	0	1	0	0	0	0	17968	246	9	0	505	0	ZNF527	19	37879442	Frame_Shift_Del	DEL	AATTTAGT	TCGA-13-1498-01A-01W-0549-09	1545990	37879442	21249541	101	7857											
HNRNPL	3191	genome.wustl.edu	37	19	39338015	39338015	+	Silent	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr19:39338015C>A	ENST00000221419.5	-	2	693	c.327G>T	c.(325-327)ctG>ctT	p.L109L	AC008982.2_ENST00000600473.1_RNA|HNRNPL_ENST00000600873.1_5'UTR	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	109	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.L109L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CACCGTCAATCAGGCCCCTGA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	19											91	81	84					19																	39338015		2203	4300	6503	44029855	SO:0001819	synonymous_variant	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.327G>T	19.37:g.39338015C>A			44029855	A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	CCDS33015.1																																																																																				0.522	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			A	39338015	C	A	39338015	2	1	142	1	0	0	0	0	0	0	0	1	7270	813	29	3		3	HNRNPL	19	39338015	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	1458573	39338015	19790968	102	7858											
CEACAM7	1087	genome.wustl.edu	37	19	42190798	42190798	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr19:42190798T>C	ENST00000006724.3	-	2	620	c.419A>G	c.(418-420)tAc>tGc	p.Y140C	CEACAM7_ENST00000401731.1_Missense_Mutation_p.Y140C|CEACAM7_ENST00000602225.1_Missense_Mutation_p.Y140C|CEACAM7_ENST00000338196.4_Missense_Mutation_p.Y140C|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	140	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y140C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ACAGAATACGTAGAATTGTCT	0.483																																																1	Substitution - Missense(1)	ovary(1)	19											145	134	137					19																	42190798		2203	4300	6503	46882638	SO:0001583	missense	1087			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.419A>G	19.37:g.42190798T>C	ENSP00000006724:p.Tyr140Cys		46882638	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	T	7.166	0.586584	0.13749	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.65916	-0.18;-0.18;-0.18	1.68	-3.36	0.04913	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40932	0.1137	N	0.17082	0.46	0.09310	N	1	D;B	0.56287	0.975;0.001	B;B	0.42361	0.385;0.003	T	0.39542	-0.9609	9	0.38643	T	0.18	.	8.126	0.30999	0.0:0.6423:0.0:0.3577	.	140;140	Q14002-2;Q14002	.;CEAM7_HUMAN	C	140;119;140;140	ENSP00000006724:Y140C;ENSP00000385932:Y140C;ENSP00000343286:Y140C	ENSP00000006724:Y140C	Y	-	2	0	CEACAM7	46882638	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.332000	0.01109	-1.441000	0.01958	-0.908000	0.02827	TAC		0.483	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		C	42190798	T	C	42190798	3	2	142	1	0	0	0	0	1	0	0	0	3197	1638	57	4	390	4	CEACAM7	19	42190798	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	2852783	42190798	16938185	103	7859											
GRIK5	2901	genome.wustl.edu	37	19	42569497	42569497	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr19:42569497C>T	ENST00000262895.3	-	2	121	c.122G>A	c.(121-123)cGt>cAt	p.R41H	GRIK5_ENST00000301218.4_Missense_Mutation_p.R41H|GRIK5_ENST00000593562.1_Missense_Mutation_p.R41H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	41					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R41H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CAAGGCCAGACGCTCACCGCG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											62	56	58					19																	42569497		2203	4300	6503	47261337	SO:0001583	missense	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.122G>A	19.37:g.42569497C>T	ENSP00000262895:p.Arg41His		47261337	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	c	26.7	4.766620	0.90020	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.22539	1.95;1.95	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000002	T	0.45155	0.1328	M	0.63428	1.95	0.32684	N	0.51515	D	0.89917	1.0	D	0.91635	0.999	T	0.56469	-0.7974	10	0.87932	D	0	.	16.9071	0.86131	0.0:1.0:0.0:0.0	.	41	Q16478	GRIK5_HUMAN	H	41	ENSP00000262895:R41H;ENSP00000301218:R41H	ENSP00000262895:R41H	R	-	2	0	GRIK5	47261337	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.882000	0.75589	2.508000	0.84585	0.632000	0.83419	CGT		0.622	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			T	42569497	C	T	42569497	3	4	142	1	0	0	0	0	1	0	0	0	6777	536	19	1	2892	1	GRIK5	19	42569497	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	378699	42569497	16559486	104	7860											
FOSB	2354	genome.wustl.edu	37	19	45974102	45974102	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr19:45974102T>G	ENST00000353609.3	+	2	934	c.342T>G	c.(340-342)agT>agG	p.S114R	FOSB_ENST00000592811.1_Missense_Mutation_p.S65R|FOSB_ENST00000591858.1_Missense_Mutation_p.S75R|FOSB_ENST00000417353.2_Missense_Mutation_p.S114R|FOSB_ENST00000586615.1_Missense_Mutation_p.S65R|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.S114R|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000590335.1_Missense_Mutation_p.S114R|FOSB_ENST00000585836.1_Missense_Mutation_p.S75R	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	114					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S114R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCTACAGCAGTGGCGGAGCGA	0.701																																																1	Substitution - Missense(1)	ovary(1)	19											63	73	70					19																	45974102		2203	4299	6502	50665942	SO:0001583	missense	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.342T>G	19.37:g.45974102T>G	ENSP00000245919:p.Ser114Arg		50665942	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502966	0.26949	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928	T;T	0.62788	-0.0;-0.0	4.49	1.05	0.20165	.	.	.	.	.	T	0.51500	0.1678	N	0.08118	0	0.24242	N	0.995359	D;B;D;D;P	0.62365	0.972;0.095;0.991;0.972;0.739	P;B;D;P;B	0.65323	0.766;0.046;0.934;0.766;0.429	T	0.42515	-0.9447	9	0.17832	T	0.49	-17.1661	5.6716	0.17725	0.0:0.3831:0.0:0.6169	.	75;75;114;114;114	A8VJF0;A8VJF3;E9PHJ3;P53539;A8VJE1	.;.;.;FOSB_HUMAN;.	R	114	ENSP00000245919:S114R;ENSP00000407207:S114R	ENSP00000245919:S114R	S	+	3	2	FOSB	50665942	0.162000	0.22906	0.999000	0.59377	0.996000	0.88848	-0.442000	0.06871	0.271000	0.22005	0.459000	0.35465	AGT		0.701	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		G	45974102	T	G	45974102	3	3	142	1	0	0	0	0	1	0	0	0	5986	1693	59	5	348	5	FOSB	19	45974102	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	3404605	45974102	13154881	105	7861											
C5AR1	728	genome.wustl.edu	37	19	47824003	47824003	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr19:47824003G>T	ENST00000355085.3	+	2	991	c.969G>T	c.(967-969)ttG>ttT	p.L323F		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	323					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.L323F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GGAACGTGTTGACTGAAGAGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											72	69	70					19																	47824003		2203	4300	6503	52515843	SO:0001583	missense	728				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.969G>T	19.37:g.47824003G>T	ENSP00000347197:p.Leu323Phe		52515843		Missense_Mutation	SNP	ENST00000355085.3	37	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302282	0.60195	.	.	ENSG00000197405	ENST00000355085	T	0.38240	1.15	5.02	1.51	0.23008	.	0.075715	0.53938	U	0.000049	T	0.46737	0.1408	M	0.68952	2.095	0.09310	N	0.999995	D	0.62365	0.991	P	0.55965	0.788	T	0.37888	-0.9686	10	0.87932	D	0	.	9.1694	0.37072	0.0784:0.2778:0.6438:0.0	.	323	P21730	C5AR_HUMAN	F	323	ENSP00000347197:L323F	ENSP00000347197:L323F	L	+	3	2	C5AR1	52515843	0.027000	0.19231	0.003000	0.11579	0.093000	0.18481	0.207000	0.17395	0.187000	0.20147	0.579000	0.79373	TTG		0.602	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		T	47824003	G	T	47824003	3	4	142	1	0	0	0	0	1	0	0	0	2281	1281	45	3	974	3	C5AR1	19	47824003	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	1849901	47824003	11304980	106	7862											
PAK7	57144	genome.wustl.edu	37	20	9561002	9561002	+	Silent	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr20:9561002G>A	ENST00000378429.3	-	5	1326	c.780C>T	c.(778-780)agC>agT	p.S260S	PAK7_ENST00000378423.1_Silent_p.S260S|PAK7_ENST00000353224.5_Silent_p.S260S|RP5-986I17.2_ENST00000428769.1_RNA	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	260	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S260S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGTCATCCAGGCTGGGTCCCC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	20											100	94	96					20																	9561002		2203	4300	6503	9509002	SO:0001819	synonymous_variant	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.780C>T	20.37:g.9561002G>A			9509002	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	CCDS13107.1																																																																																				0.562	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			A	9561002	G	A	9561002	2	1	142	1	0	0	0	0	0	0	0	1	11405	1194	42	2		2	PAK7	20	9561002	Silent	SNP	G	TCGA-13-1498-01A-01W-0549-09		9561002	53464518	107	7863											
DEFB118	117285	genome.wustl.edu	37	20	29960956	29960956	+	Missense_Mutation	SNP	G	G	A	rs547430486		TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr20:29960956G>A	ENST00000253381.2	+	2	388	c.355G>A	c.(355-357)Gtt>Att	p.V119I		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	119					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.V119I(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTTCCAAATGTTCACCATAG	0.453													G|||	1	0.000199681	8e-04	0	5008	,	,		19090	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	20											84	85	85					20																	29960956		2203	4300	6503	29424617	SO:0001583	missense	117285			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.355G>A	20.37:g.29960956G>A	ENSP00000253381:p.Val119Ile		29424617	Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252031	0.39797	.	.	ENSG00000131068	ENST00000253381	T	0.09163	3.01	3.26	0.167	0.15006	.	.	.	.	.	T	0.05318	0.0141	N	0.24115	0.695	0.09310	N	1	P	0.43094	0.799	B	0.37692	0.256	T	0.33803	-0.9854	9	0.17832	T	0.49	.	3.6415	0.08169	0.2302:0.2132:0.5566:0.0	.	119	Q96PH6	DB118_HUMAN	I	119	ENSP00000253381:V119I	ENSP00000253381:V119I	V	+	1	0	DEFB118	29424617	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.391000	0.07323	0.059000	0.16252	0.650000	0.86243	GTT		0.453	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		A	29960956	G	A	29960956	3	1	142	1	0	0	0	0	1	0	0	0	4406	1377	48	2	361	2	DEFB118	20	29960956	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	20399954	29960956	33064564	108	7864											
NFS1	9054	genome.wustl.edu	37	20	34268746	34268746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr20:34268746G>A	ENST00000374092.4	-	7	773	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	NFS1_ENST00000397425.1_Nonsense_Mutation_p.Q175*|NFS1_ENST00000540053.1_Nonsense_Mutation_p.Q33*|NFS1_ENST00000541387.1_Nonsense_Mutation_p.Q184*|NFS1_ENST00000374085.1_Nonsense_Mutation_p.Q175*	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	235					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.Q235*(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	CCAACAGCCTGGGCTGCATCA	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	20											123	100	108					20																	34268746		2203	4300	6503	33732160	SO:0001587	stop_gained	9054			AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"nitrogen fixation 1 (S. cerevisiae, homolog)", "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.703C>T	20.37:g.34268746G>A	ENSP00000363205:p.Gln235*		33732160	B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Nonsense_Mutation	SNP	ENST00000374092.4	37	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654971	0.96724	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	.	.	.	5.55	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.1185	14.5239	0.67873	0.0697:0.0:0.9303:0.0	.	.	.	.	X	235;175;175;33;184	.	ENSP00000363198:Q175X	Q	-	1	0	NFS1	33732160	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.610000	0.98337	1.595000	0.50050	-0.229000	0.12294	CAG		0.458	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		A	34268746	G	A	34268746	4	1	142	1	0	0	0	0	0	1	0	0	10385	1357	47	2	698	2	NFS1	20	34268746	Nonsense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09	4307790	34268746	28756774	109	7865											
STAU1	6780	genome.wustl.edu	37	20	47739667	47739667	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr20:47739667C>G	ENST00000371856.2	-	8	1338	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	STAU1_ENST00000340954.7_Missense_Mutation_p.E229Q|STAU1_ENST00000360426.4_Missense_Mutation_p.E229Q|STAU1_ENST00000371792.1_Missense_Mutation_p.E227Q|STAU1_ENST00000371802.1_Missense_Mutation_p.E235Q|STAU1_ENST00000371828.3_Missense_Mutation_p.E235Q|STAU1_ENST00000347458.5_Missense_Mutation_p.E229Q	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	310	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.E310Q(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGGCCTCGCTCTGTGAGGAGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	20											84	67	72					20																	47739667		2203	4300	6503	47173074	SO:0001583	missense	6780				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.928G>C	20.37:g.47739667C>G	ENSP00000360922:p.Glu310Gln		47173074	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003070	0.93287	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.28	4.34	0.51931	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86648	0.5983	M	0.70108	2.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.87998	0.2754	10	0.87932	D	0	-19.0891	14.0447	0.64698	0.0:0.9269:0.0:0.0731	.	310;235	O95793;Q5JW29	STAU1_HUMAN;.	Q	235;229;310;229;229;229;235;227	ENSP00000360893:E235Q;ENSP00000345425:E229Q;ENSP00000360922:E310Q;ENSP00000353604:E229Q;ENSP00000323443:E229Q;ENSP00000360867:E235Q;ENSP00000360857:E227Q	ENSP00000345425:E229Q	E	-	1	0	STAU1	47173074	1.000000	0.71417	0.969000	0.41365	0.993000	0.82548	7.818000	0.86416	1.210000	0.43336	0.650000	0.86243	GAG		0.612	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		G	47739667	C	G	47739667	3	3	142	1	0	0	0	0	1	0	0	0	15274	922	32	3	833	3	STAU1	20	47739667	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	13470921	47739667	15285853	110	7866											
ITGB2	3689	genome.wustl.edu	37	21	46326980	46326980	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr21:46326980T>G	ENST00000397850.2	-	5	630	c.178A>C	c.(178-180)Att>Ctt	p.I60L	ITGB2_ENST00000355153.4_Missense_Mutation_p.I60L|ITGB2_ENST00000302347.5_Missense_Mutation_p.I60L|ITGB2_ENST00000397852.1_Missense_Mutation_p.I60L|ITGB2_ENST00000397854.3_Missense_Mutation_p.I60L|ITGB2_ENST00000523126.1_5'Flank|ITGB2_ENST00000397857.1_Missense_Mutation_p.I60L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	60					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.I60L(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCGCAGCGAATGGAGTCAGGA	0.652																																																1	Substitution - Missense(1)	ovary(1)	21											64	63	63					21																	46326980		2203	4300	6503	45151408	SO:0001583	missense	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.178A>C	21.37:g.46326980T>G	ENSP00000380948:p.Ile60Leu		45151408	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	T	5.403	0.259477	0.10239	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216;ENST00000523663;ENST00000522931;ENST00000517563;ENST00000517819	D;D;D;D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-2.99	4.47	-5.33	0.02713	Integrin beta subunit, N-terminal (2);	.	.	.	.	T	0.78298	0.4261	N	0.04018	-0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.002;0.008	T	0.67300	-0.5705	9	0.22109	T	0.4	.	2.6958	0.05134	0.118:0.3278:0.112:0.4422	.	60;60	A8MYE6;P05107	.;ITB2_HUMAN	L	60;60;60;60;60;60;60;51;60;60;60;60	ENSP00000380950:I60L;ENSP00000380955:I60L;ENSP00000380952:I60L;ENSP00000347279:I60L;ENSP00000380948:I60L;ENSP00000303242:I60L;ENSP00000317697:I51L;ENSP00000428503:I60L;ENSP00000428979:I60L;ENSP00000428413:I60L;ENSP00000428870:I60L	ENSP00000303242:I60L	I	-	1	0	ITGB2	45151408	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.416000	0.07097	-0.946000	0.03677	0.418000	0.28097	ATT		0.652	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		G	46326980	T	G	46326980	3	3	142	1	0	0	0	0	1	0	0	0	7894	1464	51	5	2183	5	ITGB2	21	46326980	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09		46326980	1802915	111	7867											
IL2RB	3560	genome.wustl.edu	37	22	37524514	37524514	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr22:37524514G>T	ENST00000216223.5	-	10	1476	c.1278C>A	c.(1276-1278)gaC>gaA	p.D426E		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	426					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.D426E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGAGCAGCAGGTCATCCCTGG	0.682																																																1	Substitution - Missense(1)	ovary(1)	22											20	21	21					22																	37524514		2203	4298	6501	35854460	SO:0001583	missense	3560			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1278C>A	22.37:g.37524514G>T	ENSP00000216223:p.Asp426Glu		35854460	B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549471	0.45383	.	.	ENSG00000100385	ENST00000216223	T	0.20738	2.05	4.64	1.22	0.21188	.	0.843870	0.10813	N	0.631419	T	0.36717	0.0977	M	0.68952	2.095	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.18903	-1.0322	10	0.62326	D	0.03	-11.4777	1.6773	0.02824	0.1816:0.3037:0.3588:0.1559	.	426	P14784	IL2RB_HUMAN	E	426	ENSP00000216223:D426E	ENSP00000216223:D426E	D	-	3	2	IL2RB	35854460	0.150000	0.22732	0.925000	0.36789	0.320000	0.28249	0.440000	0.21592	0.441000	0.26529	0.655000	0.94253	GAC		0.682	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			T	37524514	G	T	37524514	3	4	142	1	0	0	0	0	1	0	0	0	7687	1252	44	3	381	3	IL2RB	22	37524514	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09		37524514	13780052	112	7868											
TOB2	10766	genome.wustl.edu	37	22	41832900	41832900	+	Silent	SNP	C	C	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr22:41832900C>G	ENST00000327492.3	-	2	1156	c.450G>C	c.(448-450)ctG>ctC	p.L150L		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	150					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L150L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGGAGTTGGACAGGGAGCTGT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	22											87	78	81					22																	41832900		2203	4300	6503	40162846	SO:0001819	synonymous_variant	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.450G>C	22.37:g.41832900C>G			40162846	Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Silent	SNP	ENST00000327492.3	37	CCDS14015.1																																																																																				0.627	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		G	41832900	C	G	41832900	2	3	142	1	0	0	0	0	0	0	0	1	16348	465	17	3		3	TOB2	22	41832900	Silent	SNP	C	TCGA-13-1498-01A-01W-0549-09	4308386	41832900	9471666	113	7869											
SMC1B	27127	genome.wustl.edu	37	22	45789614	45789614	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	A	C	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chr22:45789614C>A	ENST00000357450.4	-	9	1444	c.1445G>T	c.(1444-1446)aGt>aTt	p.S482I	SMC1B_ENST00000404354.3_Missense_Mutation_p.S482I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	482					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.S482I(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTGCAATTCACTTCTAATAAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	22											121	107	111					22																	45789614		1837	4085	5922	44168278	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1445G>T	22.37:g.45789614C>A	ENSP00000350036:p.Ser482Ile		44168278	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351192	0.41700	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.86562	-2.14;-2.14	6.07	-1.67	0.08238	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.575317	0.17305	N	0.179101	T	0.72120	0.3421	N	0.08118	0	0.23784	N	0.996856	B;B;B	0.26258	0.009;0.145;0.087	B;B;B	0.29077	0.027;0.098;0.062	T	0.61252	-0.7100	10	0.44086	T	0.13	.	10.4524	0.44531	0.0:0.5686:0.0:0.4313	.	482;482;482	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	I	482	ENSP00000350036:S482I;ENSP00000385902:S482I	ENSP00000350036:S482I	S	-	2	0	SMC1B	44168278	0.046000	0.20272	0.901000	0.35422	0.838000	0.47535	0.039000	0.13884	-0.421000	0.07416	-0.237000	0.12165	AGT		0.368	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		A	45789614	C	A	45789614	3	1	142	1	0	0	0	0	1	0	0	0	14785	565	20	3	2330	3	SMC1B	22	45789614	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	3956714	45789614	5514952	114	7870											
USP11	8237	genome.wustl.edu	37	X	47101535	47101535	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chrX:47101535G>A	ENST00000218348.3	+	10	1363	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	USP11_ENST00000377107.2_Missense_Mutation_p.V412M	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	455	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.V455M(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TTCTGTGATCGTGGACACTTT	0.557																																																1	Substitution - Missense(1)	ovary(1)	X											120	85	97					X																	47101535		2203	4300	6503	46986479	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1363G>A	X.37:g.47101535G>A	ENSP00000218348:p.Val455Met		46986479	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703516	0.88924	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.31247	1.5;1.5	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.59905	0.2228	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.65113	-0.6247	10	0.87932	D	0	-21.9287	17.2763	0.87116	0.0:0.0:1.0:0.0	.	182;455	B3KP28;P51784	.;UBP11_HUMAN	M	412;455	ENSP00000366311:V412M;ENSP00000218348:V455M	ENSP00000218348:V455M	V	+	1	0	USP11	46986479	1.000000	0.71417	0.940000	0.37924	0.987000	0.75469	7.924000	0.87555	2.346000	0.79739	0.600000	0.82982	GTG		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		A	47101535	G	A	47101535	3	1	142	1	0	0	0	0	1	0	0	0	17042	1145	40	1	1401	1	USP11	23	47101535	Missense_Mutation	SNP	G	TCGA-13-1498-01A-01W-0549-09		47101535	108169025	115	7871											
BMP15	9210	genome.wustl.edu	37	X	50659305	50659305	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chrX:50659305C>A	ENST00000252677.3	+	2	877	c.877C>A	c.(877-879)Ctc>Atc	p.L293I		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	293					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.L293I(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCAGTGTTCCCTCCACCCTTT	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											109	92	98					X																	50659305		2203	4299	6502	50676045	SO:0001583	missense	9210			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.877C>A	X.37:g.50659305C>A	ENSP00000252677:p.Leu293Ile		50676045	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	17.75	3.466014	0.63625	.	.	ENSG00000130385	ENST00000252677	D	0.89810	-2.57	5.51	4.65	0.58169	Transforming growth factor-beta, C-terminal (3);	0.185069	0.48767	D	0.000178	D	0.92841	0.7723	M	0.67625	2.065	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.92475	0.5988	10	0.59425	D	0.04	.	11.0729	0.48014	0.0:0.9077:0.0:0.0923	.	293	O95972	BMP15_HUMAN	I	293	ENSP00000252677:L293I	ENSP00000252677:L293I	L	+	1	0	BMP15	50676045	0.993000	0.37304	0.999000	0.59377	0.921000	0.55340	2.297000	0.43593	1.105000	0.41606	0.550000	0.68814	CTC		0.512	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		A	50659305	C	A	50659305	3	1	142	1	0	0	0	0	1	0	0	0	1458	681	24	3	883	3	BMP15	23	50659305	Missense_Mutation	SNP	C	TCGA-13-1498-01A-01W-0549-09	3557770	50659305	104611255	116	7872											
GPRASP2	114928	genome.wustl.edu	37	X	101971320	101971320	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	T	T	G	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chrX:101971320T>G	ENST00000535209.1	+	4	2354	c.1523T>G	c.(1522-1524)tTc>tGc	p.F508C	GPRASP2_ENST00000543253.1_Missense_Mutation_p.F508C|GPRASP2_ENST00000332262.5_Missense_Mutation_p.F508C			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	508						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.F508C(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GGGGTTGGCTTCCGATCCACA	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											73	68	70					X																	101971320		2203	4300	6503	101857976	SO:0001583	missense	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1523T>G	X.37:g.101971320T>G	ENSP00000437394:p.Phe508Cys		101857976	D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	T	9.243	1.038719	0.19669	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.16196	2.36;2.36;2.36	4.44	4.44	0.53790	.	0.000000	0.49305	D	0.000156	T	0.37376	0.1001	M	0.71036	2.16	0.35307	D	0.78357	D	0.89917	1.0	D	0.85130	0.997	T	0.51148	-0.8742	10	0.62326	D	0.03	.	9.0697	0.36484	0.0:0.0:0.0:1.0	.	508	Q96D09	GASP2_HUMAN	C	508	ENSP00000437872:F508C;ENSP00000437394:F508C;ENSP00000339057:F508C	ENSP00000339057:F508C	F	+	2	0	GPRASP2	101857976	0.986000	0.35501	0.916000	0.36221	0.006000	0.05464	1.970000	0.40520	1.963000	0.57068	0.486000	0.48141	TTC		0.512	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		G	101971320	T	G	101971320	3	3	142	1	0	0	0	0	1	0	0	0	6723	1783	62	5	1525	5	GPRASP2	23	101971320	Missense_Mutation	SNP	T	TCGA-13-1498-01A-01W-0549-09	51312015	101971320	53299240	117	7873											
ODZ1	10178	genome.wustl.edu	37	X	123631096	123631096	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1498-01A-01W-0549-09	TCGA-13-1498-10A-01W-0549-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b00d9680-4099-43fe-87de-b3cc8b9e70c8	30b2b852-217f-459e-bac0-5e2df47fded7	g.chrX:123631096A>T	ENST00000371130.3	-	20	3528	c.3465T>A	c.(3463-3465)aaT>aaA	p.N1155K	TENM1_ENST00000461429.1_5'Flank|TENM1_ENST00000422452.2_Missense_Mutation_p.N1155K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1155					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N1157K(1)									TATTTTCTCCATTCCCTTTAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	X											89	76	80					X																	123631096		2202	4300	6502	123458777	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3465T>A	X.37:g.123631096A>T	ENSP00000360171:p.Asn1155Lys		123458777	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953267	0.34471	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87334	-2.24;-2.16	5.55	3.16	0.36331	.	0.106321	0.64402	D	0.000006	T	0.79106	0.4390	L	0.33753	1.03	0.54753	D	0.999986	P;P;P	0.43094	0.651;0.799;0.745	B;B;B	0.38562	0.214;0.276;0.218	T	0.75698	-0.3227	10	0.87932	D	0	.	9.1252	0.36810	0.8493:0.0:0.1507:0.0	.	1154;1155;1155	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	1155	ENSP00000360171:N1155K;ENSP00000403954:N1155K	ENSP00000360171:N1155K	N	-	3	2	ODZ1	123458777	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	1.199000	0.32235	0.256000	0.21614	-0.314000	0.08810	AAT		0.368	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123631096	A	T	123631096	3	4	142	1	0	0	0	0	1	0	0	0	10834	214	8	5	4785	5	ODZ1	23	123631096	Missense_Mutation	SNP	A	TCGA-13-1498-01A-01W-0549-09	21659776	123631096	31639464	118	7874											
SPATA21	374955	genome.wustl.edu	37	1	16725989	16725989	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:16725989T>C	ENST00000335496.1	-	12	1684	c.1202A>G	c.(1201-1203)cAg>cGg	p.Q401R	SPATA21_ENST00000540400.1_Missense_Mutation_p.Q378R|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	401							calcium ion binding (GO:0005509)	p.Q401R(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCAGGGCACCTGGGCATAGGG	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											58	49	52					1																	16725989		2203	4300	6503	16598576	SO:0001583	missense	374955				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1202A>G	1.37:g.16725989T>C	ENSP00000335612:p.Gln401Arg		16598576	B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	CCDS172.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980489	0.74474	.	.	ENSG00000187144	ENST00000491418;ENST00000335496;ENST00000540400	T;T;T	0.68181	0.75;-0.31;-0.31	5.11	5.11	0.69529	.	0.119203	0.38436	N	0.001699	T	0.76271	0.3964	L	0.55481	1.735	0.35657	D	0.812235	D;D	0.89917	0.998;1.0	D;D	0.78314	0.978;0.991	T	0.82090	-0.0629	10	0.56958	D	0.05	-13.1176	11.4757	0.50297	0.0:0.0:0.0:1.0	.	378;401	F5GXP5;Q7Z572	.;SPT21_HUMAN	R	109;401;378	ENSP00000420753:Q109R;ENSP00000335612:Q401R;ENSP00000440046:Q378R	ENSP00000335612:Q401R	Q	-	2	0	SPATA21	16598576	0.998000	0.40836	1.000000	0.80357	0.855000	0.48748	3.428000	0.52792	2.279000	0.76181	0.459000	0.35465	CAG		0.597	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		C	16725989	T	C	16725989	3	2	143	1	0	0	0	0	1	0	0	0	15009	1580	55	4	215	4	SPATA21	1	16725989	Missense_Mutation	SNP	T	TCGA-13-1499-01A-01W-0549-09		16725989	232524632	1	7875											
PADI3	51702	genome.wustl.edu	37	1	17599933	17599933	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:17599933A>T	ENST00000375460.3	+	10	1186	c.1146A>T	c.(1144-1146)aaA>aaT	p.K382N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	382					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.K382N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCCTTACAAAAGAATCCTGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											40	43	42					1																	17599933		2203	4300	6503	17472520	SO:0001583	missense	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1146A>T	1.37:g.17599933A>T	ENSP00000364609:p.Lys382Asn		17472520	Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	CCDS179.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522410	0.27211	.	.	ENSG00000142619	ENST00000375460	T	0.28895	1.59	5.29	-1.23	0.09465	Protein-arginine deiminase, C-terminal (1);	0.261257	0.44483	D	0.000460	T	0.33847	0.0877	M	0.82923	2.615	0.25203	N	0.990036	B	0.30937	0.301	B	0.32090	0.14	T	0.30650	-0.9971	10	0.45353	T	0.12	-10.6378	10.9974	0.47585	0.5488:0.0:0.4512:0.0	.	382	Q9ULW8	PADI3_HUMAN	N	382	ENSP00000364609:K382N	ENSP00000364609:K382N	K	+	3	2	PADI3	17472520	0.999000	0.42202	0.641000	0.29422	0.393000	0.30537	0.792000	0.26929	-0.515000	0.06479	-0.534000	0.04291	AAA		0.622	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			T	17599933	A	T	17599933	3	4	143	1	0	0	0	0	1	0	0	0	11379	11	1	5	1184	5	PADI3	1	17599933	Missense_Mutation	SNP	A	TCGA-13-1499-01A-01W-0549-09	873944	17599933	231650688	2	7876											
PADI4	23569	genome.wustl.edu	37	1	17674461	17674461	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:17674461A>T	ENST00000375448.4	+	10	1099	c.1073A>T	c.(1072-1074)cAa>cTa	p.Q358L	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	358					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.Q358L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGCTACATCCAAGCCCCACAC	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											113	96	102					1																	17674461		2203	4300	6503	17547048	SO:0001583	missense	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1073A>T	1.37:g.17674461A>T	ENSP00000364597:p.Gln358Leu		17547048	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	CCDS180.1	.	.	.	.	.	.	.	.	.	.	-	18.92	3.726027	0.69074	.	.	ENSG00000159339	ENST00000375448	T	0.24908	1.83	5.47	5.47	0.80525	Protein-arginine deiminase, C-terminal (1);	0.166295	0.39687	N	0.001283	T	0.51924	0.1703	M	0.87328	2.875	0.39281	D	0.964565	D;D	0.57257	0.975;0.979	P;P	0.60236	0.863;0.871	T	0.63189	-0.6693	10	0.72032	D	0.01	-19.5908	12.9677	0.58494	1.0:0.0:0.0:0.0	.	358;358	A8K392;Q9UM07	.;PADI4_HUMAN	L	358	ENSP00000364597:Q358L	ENSP00000364597:Q358L	Q	+	2	0	PADI4	17547048	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.307000	0.89964	2.087000	0.62958	0.423000	0.28283	CAA		0.597	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		T	17674461	A	T	17674461	3	4	143	1	0	0	0	0	1	0	0	0	11380	130	5	5	1111	5	PADI4	1	17674461	Missense_Mutation	SNP	A	TCGA-13-1499-01A-01W-0549-09	74528	17674461	231576160	3	7877											
ACTL8	81569	genome.wustl.edu	37	1	18152897	18152897	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:18152897G>C	ENST00000375406.1	+	3	1200	c.984G>C	c.(982-984)tgG>tgC	p.W328C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	328					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.W328C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCACAGTCTGGGAGGGTTCCA	0.577											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											70	77	75					1																	18152897		2203	4300	6503	18025484	SO:0001583	missense	81569			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.984G>C	1.37:g.18152897G>C	ENSP00000364555:p.Trp328Cys	723	18025484	Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181360	0.38511	.	.	ENSG00000117148	ENST00000375406	T	0.07800	3.16	4.63	2.71	0.32032	.	0.518801	0.16455	N	0.213665	T	0.10380	0.0254	N	0.25647	0.755	0.09310	N	0.999996	D	0.58620	0.983	P	0.54346	0.749	T	0.13469	-1.0508	10	0.87932	D	0	-4.9511	6.1014	0.20049	0.0915:0.0:0.5796:0.3288	.	328	Q9H568	ACTL8_HUMAN	C	328	ENSP00000364555:W328C	ENSP00000364555:W328C	W	+	3	0	ACTL8	18025484	0.012000	0.17670	0.027000	0.17364	0.009000	0.06853	0.576000	0.23744	0.610000	0.30035	0.655000	0.94253	TGG		0.577	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		C	18152897	G	C	18152897	3	2	143	1	0	0	0	0	1	0	0	0	202	1241	43	3	990	3	ACTL8	1	18152897	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	478436	18152897	231097724	4	7878											
UBR4	23352	genome.wustl.edu	37	1	19493580	19493580	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:19493580G>C	ENST00000375254.3	-	29	4072	c.4045C>G	c.(4045-4047)Cgt>Ggt	p.R1349G	UBR4_ENST00000375217.2_Missense_Mutation_p.R1349G|UBR4_ENST00000375226.2_Missense_Mutation_p.R1349G|UBR4_ENST00000375267.2_Missense_Mutation_p.R1349G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1349					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1349G(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCATAAACACGAGCCAAGAAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											166	151	156					1																	19493580		2203	4300	6503	19366167	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4045C>G	1.37:g.19493580G>C	ENSP00000364403:p.Arg1349Gly		19366167	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981967	0.74474	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.15	5.75	5.75	0.90469	.	0.060870	0.64402	D	0.000003	T	0.53400	0.1794	L	0.29908	0.895	0.80722	D	1	B	0.32160	0.358	B	0.26310	0.068	T	0.53486	-0.8432	10	0.39692	T	0.17	.	14.3861	0.66945	0.0:0.0:0.8521:0.1479	.	1349	Q5T4S7	UBR4_HUMAN	G	1349;1349;1349;1349;59;565	ENSP00000364403:R1349G;ENSP00000364416:R1349G;ENSP00000364365:R1349G;ENSP00000364374:R1349G;ENSP00000404897:R59G	ENSP00000364365:R1349G	R	-	1	0	UBR4	19366167	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.421000	0.80204	2.721000	0.93114	0.585000	0.79938	CGT		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19493580	G	C	19493580	3	2	143	1	0	0	0	0	1	0	0	0	16904	1058	37	3	11818	3	UBR4	1	19493580	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	1340683	19493580	229757041	5	7879											
CLSPN	63967	genome.wustl.edu	37	1	36226156	36226156	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:36226156G>C	ENST00000318121.3	-	8	1423	c.1366C>G	c.(1366-1368)Ctg>Gtg	p.L456V	CLSPN_ENST00000520551.1_Missense_Mutation_p.L456V|CLSPN_ENST00000373220.3_Missense_Mutation_p.L456V|CLSPN_ENST00000251195.5_Missense_Mutation_p.L456V	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	456					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.L456V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCACCCTCCAGGGCATGAGGT	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											157	148	151					1																	36226156		2203	4300	6503	35998743	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1366C>G	1.37:g.36226156G>C	ENSP00000312995:p.Leu456Val		35998743	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603519	0.28534	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.24151	1.88;1.88;1.87;1.88	5.32	-0.846	0.10734	.	0.279625	0.29565	N	0.011795	T	0.34366	0.0895	L	0.55103	1.725	0.09310	N	1	D;D	0.71674	0.974;0.998	P;D	0.77557	0.684;0.99	T	0.23226	-1.0194	10	0.19590	T	0.45	-5.8648	6.4369	0.21829	0.3345:0.1263:0.5392:0.0	.	456;456	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	V	456	ENSP00000251195:L456V;ENSP00000312995:L456V;ENSP00000362317:L456V;ENSP00000428848:L456V	ENSP00000251195:L456V	L	-	1	2	CLSPN	35998743	0.000000	0.05858	0.236000	0.24074	0.811000	0.45836	-0.129000	0.10515	0.170000	0.19704	0.591000	0.81541	CTG		0.493	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		C	36226156	G	C	36226156	3	2	143	1	0	0	0	0	1	0	0	0	3560	991	35	3	2725	3	CLSPN	1	36226156	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	16732576	36226156	213024465	6	7880											
THRAP3	9967	genome.wustl.edu	37	1	36762273	36762273	+	Silent	SNP	T	T	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:36762273T>A	ENST00000354618.5	+	9	2429	c.2205T>A	c.(2203-2205)ggT>ggA	p.G735G	THRAP3_ENST00000469141.2_Silent_p.G735G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	735	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G735G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTAAACGAGGTAAATCGAGAG	0.398			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - coding silent(1)	ovary(1)	1											125	125	125					1																	36762273		2203	4300	6503	36534860	SO:0001819	synonymous_variant	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2205T>A	1.37:g.36762273T>A			36534860	D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	CCDS405.1																																																																																				0.398	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		A	36762273	T	A	36762273	2	1	143	1	0	0	0	0	0	0	0	1	15874	1625	57	5		5	THRAP3	1	36762273	Silent	SNP	T	TCGA-13-1499-01A-01W-0549-09	536117	36762273	212488348	7	7881											
DNAJC6	9829	genome.wustl.edu	37	1	65855051	65855051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:65855051G>T	ENST00000395325.3	+	10	1292	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E436*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E366*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	379					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.E379*(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCCACCATGGGAACATTACTG	0.443																																																1	Substitution - Nonsense(1)	ovary(1)	1											139	124	129					1																	65855051		2203	4300	6503	65627639	SO:0001587	stop_gained	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1135G>T	1.37:g.65855051G>T	ENSP00000378735:p.Glu379*		65627639	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Nonsense_Mutation	SNP	ENST00000395325.3	37	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	37	6.399510	0.97537	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.5125	0.95148	0.0:0.0:1.0:0.0	.	.	.	.	X	366;379;436	.	ENSP00000263441:E366X	E	+	1	0	DNAJC6	65627639	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	9.249000	0.95470	2.840000	0.97914	0.655000	0.94253	GAA		0.443	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			T	65855051	G	T	65855051	4	4	143	1	0	0	0	0	0	1	0	0	4653	1175	41	3	1173	3	DNAJC6	1	65855051	Nonsense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	29092778	65855051	183395570	8	7882											
HSD3B2	3284	genome.wustl.edu	37	1	119965185	119965185	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:119965185A>T	ENST00000543831.1	+	4	1310	c.1061A>T	c.(1060-1062)gAg>gTg	p.E354V	HSD3B2_ENST00000369416.3_Missense_Mutation_p.E354V	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	354					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.E354V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	AAAACCGTGGAGTGGGTTGGT	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											57	51	53					1																	119965185		2203	4300	6503	119766708	SO:0001583	missense	3284			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.1061A>T	1.37:g.119965185A>T	ENSP00000445122:p.Glu354Val		119766708	A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	15.86	2.958922	0.53400	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.89875	-2.58;-2.58	4.32	3.14	0.36123	.	0.442237	0.26103	N	0.026328	D	0.87034	0.6077	M	0.91196	3.185	0.36550	D	0.871775	P	0.44659	0.84	P	0.45343	0.477	D	0.85606	0.1255	9	.	.	.	-3.9978	5.2149	0.15336	0.7233:0.1825:0.0942:0.0	.	354	P26439	3BHS2_HUMAN	V	354	ENSP00000445122:E354V;ENSP00000358424:E354V	.	E	+	2	0	HSD3B2	119766708	0.996000	0.38824	0.596000	0.28811	0.770000	0.43624	2.663000	0.46774	0.505000	0.28104	0.248000	0.18094	GAG		0.483	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		T	119965185	A	T	119965185	3	4	143	1	0	0	0	0	1	0	0	0	7391	304	11	5	1071	5	HSD3B2	1	119965185	Missense_Mutation	SNP	A	TCGA-13-1499-01A-01W-0549-09	54110134	119965185	129285436	9	7883											
OR6K3	391114	genome.wustl.edu	37	1	158687573	158687573	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:158687573C>G	ENST00000368146.1	-	1	380	c.381G>C	c.(379-381)gaG>gaC	p.E127D	OR6K3_ENST00000368145.1_Missense_Mutation_p.E111D			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E127D(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GCAAGATCCCCTCTGAGTTTT	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											121	126	124					1																	158687573		2203	4300	6503	156954197	SO:0001583	missense	391114			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.381G>C	1.37:g.158687573C>G	ENSP00000357128:p.Glu127Asp		156954197	Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37		.	.	.	.	.	.	.	.	.	.	C	11.98	1.799404	0.31869	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00354	7.92;7.92	4.03	-8.06	0.01102	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	L	0.59912	1.85	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04650	-1.0936	9	0.37606	T	0.19	.	12.2845	0.54786	0.0:0.6252:0.1133:0.2615	.	127	Q8NGY3	OR6K3_HUMAN	D	111;127	ENSP00000357127:E111D;ENSP00000357128:E127D	ENSP00000357127:E111D	E	-	3	2	OR6K3	156954197	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-5.717000	0.00102	-2.507000	0.00506	-0.490000	0.04691	GAG		0.488	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				G	158687573	C	G	158687573	3	3	143	1	0	0	0	0	1	0	0	0	11203	680	24	3	616	3	OR6K3	1	158687573	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	38722388	158687573	90563048	10	7884											
HMCN1	83872	genome.wustl.edu	37	1	185992266	185992266	+	Silent	SNP	C	C	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:185992266C>T	ENST00000271588.4	+	36	5959	c.5730C>T	c.(5728-5730)caC>caT	p.H1910H	HMCN1_ENST00000367492.2_Silent_p.H1910H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1910	Ig-like C2-type 16.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.H1910H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACAACAGCACATTCAACTGC	0.378																																																1	Substitution - coding silent(1)	ovary(1)	1											120	115	117					1																	185992266		2203	4300	6503	184258889	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5730C>T	1.37:g.185992266C>T			184258889	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185992266	C	T	185992266	2	4	143	1	0	0	0	0	0	0	0	1	7220	477	17	2		2	HMCN1	1	185992266	Silent	SNP	C	TCGA-13-1499-01A-01W-0549-09	27304693	185992266	63258355	11	7885											
IPO9	55705	genome.wustl.edu	37	1	201821291	201821291	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:201821291G>A	ENST00000361565.4	+	5	643	c.574G>A	c.(574-576)Gag>Aag	p.E192K	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	192					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.E192K(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CATTCTCCCAGAGATGTATAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											97	95	96					1																	201821291		2203	4300	6503	200087914	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.574G>A	1.37:g.201821291G>A	ENSP00000354742:p.Glu192Lys		200087914	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608183	0.96626	.	.	ENSG00000198700	ENST00000361565	T	0.65732	-0.17	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.044602	0.85682	D	0.000000	T	0.70465	0.3227	M	0.72353	2.195	0.80722	D	1	D	0.59357	0.985	P	0.54965	0.765	T	0.65973	-0.6038	10	0.06365	T	0.9	-5.0673	17.8336	0.88689	0.0:0.0:1.0:0.0	.	192	Q96P70	IPO9_HUMAN	K	192	ENSP00000354742:E192K	ENSP00000354742:E192K	E	+	1	0	IPO9	200087914	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.733000	0.84916	2.811000	0.96726	0.557000	0.71058	GAG		0.423	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		A	201821291	G	A	201821291	3	1	143	1	0	0	0	0	1	0	0	0	7799	943	33	2	592	2	IPO9	1	201821291	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	15829025	201821291	47429330	12	7886											
KCTD3	51133	genome.wustl.edu	37	1	215747131	215747131	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr1:215747131T>G	ENST00000259154.4	+	2	380	c.86T>G	c.(85-87)tTt>tGt	p.F29C		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	29	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.F29C(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AATTGCAGATTTAGTACCTCA	0.264																																																1	Substitution - Missense(1)	ovary(1)	1											62	72	69					1																	215747131		2192	4262	6454	213813754	SO:0001583	missense	51133			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.86T>G	1.37:g.215747131T>G	ENSP00000259154:p.Phe29Cys		213813754	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.954459|3.954459	0.73902|0.73902	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366945|ENST00000448333	T|.	0.56444|.	0.46|.	5.17|5.17	5.17|5.17	0.71159|0.71159	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88123|0.88123	0.6352|0.6352	H|H	0.97516|0.97516	4.02|4.02	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|D	0.92352|0.92352	0.5890|0.5890	10|5	0.87932|.	D|.	0|.	-25.6184|-25.6184	15.2955|15.2955	0.73902|0.73902	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	29;29|.	Q9Y597-2;Q9Y597|.	.;KCTD3_HUMAN|.	C|M	29|1	ENSP00000259154:F29C|.	ENSP00000259154:F29C|.	F|I	+|+	2|3	0|3	KCTD3|KCTD3	213813754|213813754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.164000|7.164000	0.77533|0.77533	2.082000|2.082000	0.62665|0.62665	0.397000|0.397000	0.26171|0.26171	TTT|ATT		0.264	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		G	215747131	T	G	215747131	3	3	143	1	0	0	0	0	1	0	0	0	8110	1841	64	5	92	5	KCTD3	1	215747131	Missense_Mutation	SNP	T	TCGA-13-1499-01A-01W-0549-09	13925840	215747131	33503490	13	7887											
SH3YL1	26751	genome.wustl.edu	37	2	231084	231084	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr2:231084T>C	ENST00000405430.1	-	9	1017	c.641A>G	c.(640-642)tAt>tGt	p.Y214C	SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000403712.2_Missense_Mutation_p.Y214C|SH3YL1_ENST00000403658.1_Missense_Mutation_p.Y118C|SH3YL1_ENST00000403657.1_Missense_Mutation_p.Y118C|SH3YL1_ENST00000415006.2_Missense_Mutation_p.Y118C|SH3YL1_ENST00000356150.5_Missense_Mutation_p.Y214C			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	214					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)	p.Y118C(1)		large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TTCATTTTCATACTTTTCAGT	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											143	136	138					2																	231084		1881	4100	5981	221084	SO:0001583	missense	26751				CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.641A>G	2.37:g.231084T>C	ENSP00000384269:p.Tyr214Cys		221084	A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Missense_Mutation	SNP	ENST00000405430.1	37		.	.	.	.	.	.	.	.	.	.	T	15.48	2.846325	0.51164	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000451005;ENST00000431160	T;T;T;T;T;T;T	0.26067	2.04;2.0;2.02;1.88;1.88;2.02;1.76	5.11	3.93	0.45458	.	0.502845	0.20526	N	0.090610	T	0.36635	0.0974	L	0.32530	0.975	0.58432	D	0.999998	D;P;D;D	0.89917	1.0;0.806;1.0;1.0	D;B;D;D	0.97110	1.0;0.446;0.998;0.999	T	0.04103	-1.0977	10	0.48119	T	0.1	-6.6767	9.5344	0.39213	0.1576:0.0:0.0:0.8424	.	118;214;214;118	Q96HL8-4;Q96HL8-2;Q96HL8;Q96HL8-3	.;.;SH3Y1_HUMAN;.	C	118;214;118;214;214;118;146;170	ENSP00000404143:Y118C;ENSP00000384276:Y214C;ENSP00000385668:Y118C;ENSP00000384269:Y214C;ENSP00000348471:Y214C;ENSP00000383928:Y118C;ENSP00000416312:Y146C	ENSP00000348471:Y214C	Y	-	2	0	SH3YL1	221084	1.000000	0.71417	0.979000	0.43373	0.487000	0.33371	3.346000	0.52190	0.760000	0.33108	0.455000	0.32223	TAT		0.393	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1	NM_015677		C	231084	T	C	231084	3	2	143	1	0	0	0	0	1	0	0	0	14266	1406	49	4	403	4	SH3YL1	2	231084	Missense_Mutation	SNP	T	TCGA-13-1499-01A-01W-0549-09		231084	242968289	14	7888											
MAP4K3	8491	genome.wustl.edu	37	2	39515317	39515317	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr2:39515317T>G	ENST00000263881.3	-	20	1743	c.1419A>C	c.(1417-1419)caA>caC	p.Q473H	MAP4K3_ENST00000536018.1_Missense_Mutation_p.Q26H|MAP4K3_ENST00000437545.1_Missense_Mutation_p.Q389H|MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q452H|MAP4K3_ENST00000474502.1_5'Flank	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	473					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Q473H(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAGGTGGAACTTGGGATGGCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											207	200	202					2																	39515317		2203	4300	6503	39368821	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1419A>C	2.37:g.39515317T>G	ENSP00000263881:p.Gln473His		39368821	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	9.887	1.203059	0.22121	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.75	-5.14	0.02875	Protein kinase-like domain (1);	0.370336	0.30771	N	0.008911	T	0.06508	0.0167	N	0.22421	0.69	0.26614	N	0.972787	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.14309	-1.0477	10	0.34782	T	0.22	.	0.3525	0.00351	0.2823:0.1822:0.2829:0.2526	.	452;473	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	H	473;389;452;26	ENSP00000263881:Q473H;ENSP00000416958:Q389H;ENSP00000345434:Q452H;ENSP00000440580:Q26H	ENSP00000263881:Q473H	Q	-	3	2	MAP4K3	39368821	0.009000	0.17119	0.694000	0.30210	0.952000	0.60782	-1.857000	0.01660	-1.240000	0.02529	-0.361000	0.07541	CAA		0.468	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		G	39515317	T	G	39515317	3	3	143	1	0	0	0	0	1	0	0	0	9261	1606	56	5	1325	5	MAP4K3	2	39515317	Missense_Mutation	SNP	T	TCGA-13-1499-01A-01W-0549-09	39284233	39515317	203684056	15	7889											
NEB	4703	genome.wustl.edu	37	2	152512413	152512413	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr2:152512413T>G	ENST00000172853.10	-	50	6767	c.6620A>C	c.(6619-6621)cAc>cCc	p.H2207P	NEB_ENST00000603639.1_Missense_Mutation_p.H2207P|NEB_ENST00000604864.1_Missense_Mutation_p.H2207P|NEB_ENST00000427231.2_Missense_Mutation_p.H2207P|NEB_ENST00000409198.1_Missense_Mutation_p.H2207P|NEB_ENST00000397345.3_Missense_Mutation_p.H2207P			P20929	NEBU_HUMAN	nebulin	2207					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.H2207P(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTGCTCGGGTGCTGGCGGTA	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											154	150	152					2																	152512413		1995	4166	6161	152220659	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6620A>C	2.37:g.152512413T>G	ENSP00000172853:p.His2207Pro		152220659	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	15.39	2.819372	0.50633	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.06768	3.26;3.3;3.3;3.26	5.3	5.3	0.74995	.	0.228496	0.43579	D	0.000544	T	0.07908	0.0198	L	0.28608	0.87	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.29671	-1.0004	10	0.23302	T	0.38	.	15.4117	0.74929	0.0:0.0:0.0:1.0	.	2207	P20929	NEBU_HUMAN	P	2207	ENSP00000386259:H2207P;ENSP00000380505:H2207P;ENSP00000416578:H2207P;ENSP00000172853:H2207P	ENSP00000172853:H2207P	H	-	2	0	NEB	152220659	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.731000	0.62022	2.225000	0.72522	0.460000	0.39030	CAC		0.498	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152512413	T	G	152512413	3	3	143	1	0	0	0	0	1	0	0	0	10302	1696	59	5	19598	5	NEB	2	152512413	Missense_Mutation	SNP	T	TCGA-13-1499-01A-01W-0549-09	112997096	152512413	90686960	16	7890											
ITGA6	3655	genome.wustl.edu	37	2	173344433	173344433	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr2:173344433C>A	ENST00000264106.6	+	11	1773	c.1570C>A	c.(1570-1572)Cag>Aag	p.Q524K	ITGA6_ENST00000409532.1_Missense_Mutation_p.Q366K|ITGA6_ENST00000343713.4_Missense_Mutation_p.Q480K|ITGA6_ENST00000375221.2_Missense_Mutation_p.Q524K|ITGA6_ENST00000264107.7_Missense_Mutation_p.Q485K|ITGA6_ENST00000409080.1_Missense_Mutation_p.Q485K|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	524					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.Q485K(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGACCTCCGCCAGAAAACAGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	2											138	146	144					2																	173344433		2203	4300	6503	173052679	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1570C>A	2.37:g.173344433C>A	ENSP00000264106:p.Gln524Lys		173052679	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	C	7.720	0.696891	0.15106	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.38	4.47	0.54385	.	0.549916	0.20487	N	0.091379	T	0.17450	0.0419	N	0.03000	-0.44	0.37526	D	0.917714	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.10660	-1.0620	10	0.07325	T	0.83	.	11.3425	0.49541	0.3538:0.6462:0.0:0.0	.	480;524;485;485	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	K	366;485;524;524;480;485;524;480	ENSP00000386614:Q366K;ENSP00000264107:Q485K;ENSP00000264106:Q524K;ENSP00000364369:Q524K;ENSP00000341078:Q480K;ENSP00000386896:Q485K;ENSP00000406694:Q524K;ENSP00000394169:Q480K	ENSP00000264106:Q524K	Q	+	1	0	ITGA6	173052679	0.932000	0.31603	1.000000	0.80357	0.609000	0.37215	0.615000	0.24329	1.184000	0.42957	0.655000	0.94253	CAG		0.493	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				A	173344433	C	A	173344433	3	1	143	1	0	0	0	0	1	0	0	0	7880	595	21	3	1491	3	ITGA6	2	173344433	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	20832020	173344433	69854940	17	7891											
HECW2	57520	genome.wustl.edu	37	2	197171942	197171942	+	Silent	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr2:197171942G>A	ENST00000260983.3	-	12	2783	c.2601C>T	c.(2599-2601)cgC>cgT	p.R867R	HECW2_ENST00000409111.1_Silent_p.R511R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	867	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R867R(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCATGGTTCTGCGGATACTCT	0.463																																																1	Substitution - coding silent(1)	ovary(1)	2											123	107	113					2																	197171942		2203	4300	6503	196880187	SO:0001819	synonymous_variant	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2601C>T	2.37:g.197171942G>A			196880187	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.463	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		A	197171942	G	A	197171942	2	1	143	1	0	0	0	0	0	0	0	1	7043	1306	46	2		2	HECW2	2	197171942	Silent	SNP	G	TCGA-13-1499-01A-01W-0549-09	23827509	197171942	46027431	18	7892											
SCN5A	6331	genome.wustl.edu	37	3	38627206	38627206	+	Silent	SNP	A	A	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr3:38627206A>G	ENST00000333535.4	-	16	2912	c.2763T>C	c.(2761-2763)ctT>ctC	p.L921L	SCN5A_ENST00000414099.2_Silent_p.L921L|SCN5A_ENST00000423572.2_Silent_p.L921L|SCN5A_ENST00000443581.1_Silent_p.L921L|SCN5A_ENST00000425664.1_Silent_p.L921L|SCN5A_ENST00000450102.2_Silent_p.L921L|SCN5A_ENST00000449557.2_Silent_p.L921L|SCN5A_ENST00000451551.2_Silent_p.L921L|SCN5A_ENST00000413689.1_Silent_p.L921L|SCN5A_ENST00000455624.2_Silent_p.L921L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	921					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.L921L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGACCATAACAAGCAAGAAGA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	3											91	90	90					3																	38627206		2179	4296	6475	38602210	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2763T>C	3.37:g.38627206A>G			38602210	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.517	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		G	38627206	A	G	38627206	2	3	143	1	0	0	0	0	0	0	0	1	13925	117	5	4		4	SCN5A	3	38627206	Silent	SNP	A	TCGA-13-1499-01A-01W-0549-09		38627206	159395224	19	7893											
ZNF167	55888	genome.wustl.edu	37	3	44611782	44611782	+	Missense_Mutation	SNP	C	C	T	rs201321192		TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr3:44611782C>T	ENST00000273320.3	+	6	1609	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R394W|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	394					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.R394W(1)									AGCTTTCAATCGGAGTTCTCA	0.463													.|||	0	0	0	0	5008	,	,		18214	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3											94	97	96					3																	44611782		2203	4300	6503	44586786	SO:0001583	missense	55888			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1180C>T	3.37:g.44611782C>T	ENSP00000273320:p.Arg394Trp		44586786	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	1.037	-0.679924	0.03353	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.07444	5.4;5.4;3.19	4.35	-0.97	0.10306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.611750	0.04506	N	0.382110	T	0.08179	0.0204	L	0.53561	1.675	0.09310	N	1	B;B	0.27450	0.179;0.028	B;B	0.19946	0.027;0.005	T	0.37454	-0.9705	10	0.27785	T	0.31	-6.6519	3.4116	0.07360	0.295:0.2846:0.0:0.4204	.	264;394	A7MAY2;Q9P0L1	.;ZN167_HUMAN	W	394;394;243	ENSP00000395524:R394W;ENSP00000273320:R394W;ENSP00000405034:R243W	ENSP00000273320:R394W	R	+	1	2	ZNF167	44586786	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-8.802000	0.00016	-0.093000	0.12396	-0.157000	0.13467	CGG		0.463	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		T	44611782	C	T	44611782	3	4	143	1	0	0	0	0	1	0	0	0	17741	875	31	1	1198	1	ZNF167	3	44611782	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	5984576	44611782	153410648	20	7894											
TRPC1	7220	genome.wustl.edu	37	3	142511801	142511801	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr3:142511801C>T	ENST00000476941.1	+	9	2059	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	TRPC1_ENST00000273482.6_Missense_Mutation_p.P491S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	525					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.P491S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TATCTTGGGTCCATTACAGGT	0.338																																																1	Substitution - Missense(1)	ovary(1)	3											89	83	85					3																	142511801		2203	4300	6503	143994491	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1573C>T	3.37:g.142511801C>T	ENSP00000419313:p.Pro525Ser		143994491	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790228	0.90367	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.98512	-4.97;-4.97	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98865	0.9616	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99878	1.1108	10	0.87932	D	0	-13.2298	19.2782	0.94040	0.0:1.0:0.0:0.0	.	525;491	P48995;P48995-2	TRPC1_HUMAN;.	S	525;491	ENSP00000419313:P525S;ENSP00000273482:P491S	ENSP00000273482:P491S	P	+	1	0	TRPC1	143994491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.622000	0.88805	0.557000	0.71058	CCA		0.338	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		T	142511801	C	T	142511801	3	4	143	1	0	0	0	0	1	0	0	0	16578	855	30	2	1501	2	TRPC1	3	142511801	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	97900019	142511801	55510629	21	7895											
PROM1	8842	genome.wustl.edu	37	4	15991388	15991388	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr4:15991388G>T	ENST00000510224.1	-	19	2291	c.2043C>A	c.(2041-2043)caC>caA	p.H681Q	PROM1_ENST00000505450.1_Missense_Mutation_p.H672Q|PROM1_ENST00000540805.1_Missense_Mutation_p.H681Q|PROM1_ENST00000543373.1_Missense_Mutation_p.H672Q|PROM1_ENST00000508167.1_Missense_Mutation_p.H672Q|PROM1_ENST00000447510.2_Missense_Mutation_p.H681Q|PROM1_ENST00000539194.1_Missense_Mutation_p.H681Q			O43490	PROM1_HUMAN	prominin 1	681					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.H680Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CTCGTTGCTGGTGAATTGTTT	0.388																																																1	Substitution - Missense(1)	ovary(1)	4											140	133	135					4																	15991388		1873	4104	5977	15600486	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.2043C>A	4.37:g.15991388G>T	ENSP00000426809:p.His681Gln		15600486	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252371	0.39797	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.03	1.03	0.20045	.	0.137977	0.64402	D	0.000003	T	0.37758	0.1015	L	0.46885	1.475	0.26758	N	0.970069	D;D;P;D;B;P	0.55172	0.97;0.97;0.92;0.97;0.433;0.78	P;P;P;P;B;P	0.53224	0.721;0.721;0.615;0.721;0.068;0.531	T	0.30208	-0.9986	10	0.10111	T	0.7	-2.9036	6.2868	0.21037	0.455:0.0:0.545:0.0	.	672;681;672;681;672;681	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	Q	681;681;681;672;672;681;672	ENSP00000415481:H681Q;ENSP00000438045:H681Q;ENSP00000443620:H681Q;ENSP00000426090:H672Q;ENSP00000427346:H672Q;ENSP00000426809:H681Q;ENSP00000445526:H672Q	ENSP00000415481:H681Q	H	-	3	2	PROM1	15600486	0.046000	0.20272	0.002000	0.10522	0.010000	0.07245	0.105000	0.15333	0.294000	0.22547	-0.140000	0.14226	CAC		0.388	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		T	15991388	G	T	15991388	3	4	143	1	0	0	0	0	1	0	0	0	12558	1252	44	3	590	3	PROM1	4	15991388	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09		15991388	175162888	22	7896											
MUC7	4589	genome.wustl.edu	37	4	71346827	71346827	+	Silent	SNP	A	A	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr4:71346827A>G	ENST00000304887.5	+	3	556	c.366A>G	c.(364-366)aaA>aaG	p.K122K	MUC7_ENST00000456088.1_Silent_p.K122K|MUC7_ENST00000413702.1_Silent_p.K122K|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	122	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.K122K(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTTCCACCAAAATTACTACCC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	4											132	124	127					4																	71346827		2203	4300	6503	71381416	SO:0001819	synonymous_variant	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.366A>G	4.37:g.71346827A>G			71381416	Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	CCDS3541.1																																																																																				0.423	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		G	71346827	A	G	71346827	2	3	143	1	0	0	0	0	0	0	0	1	9981	11	1	4		4	MUC7	4	71346827	Silent	SNP	A	TCGA-13-1499-01A-01W-0549-09	55355439	71346827	119807449	23	7897											
TLL1	7092	genome.wustl.edu	37	4	166916241	166916241	+	Silent	SNP	C	C	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr4:166916241C>T	ENST00000061240.2	+	5	1190	c.543C>T	c.(541-543)gcC>gcT	p.A181A	TLL1_ENST00000507499.1_Silent_p.A181A|TLL1_ENST00000513213.1_Silent_p.A181A	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	181	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A181A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCAAGCAGGCCATGAGGCACT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	4											153	153	153					4																	166916241		2203	4300	6503	167135691	SO:0001819	synonymous_variant	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.543C>T	4.37:g.166916241C>T			167135691	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																				0.448	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			T	166916241	C	T	166916241	2	4	143	1	0	0	0	0	0	0	0	1	15945	581	21	2		2	TLL1	4	166916241	Silent	SNP	C	TCGA-13-1499-01A-01W-0549-09	95569414	166916241	24238035	24	7898											
PLEKHG4B	153478	genome.wustl.edu	37	5	156279	156279	+	Missense_Mutation	SNP	G	G	T	rs534336026		TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr5:156279G>T	ENST00000283426.6	+	8	1284	c.1234G>T	c.(1234-1236)Gtc>Ttc	p.V412F		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	412							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V412F(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGGGGCACCGTCCTGGCGCG	0.622																																																1	Substitution - Missense(1)	ovary(1)	5											69	65	66					5																	156279		2203	4300	6503	209279	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1234G>T	5.37:g.156279G>T	ENSP00000283426:p.Val412Phe		209279		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	g	12.04	1.819777	0.32145	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.31510	1.49;2.96	3.65	0.826	0.18829	.	.	.	.	.	T	0.38427	0.1040	L	0.43152	1.355	0.09310	N	0.999999	D	0.65815	0.995	P	0.61328	0.887	T	0.18398	-1.0338	9	0.59425	D	0.04	.	6.1234	0.20165	0.3557:0.0:0.6443:0.0	.	412	Q96PX9	PKH4B_HUMAN	F	412;326	ENSP00000283426:V412F;ENSP00000422493:V326F	ENSP00000283426:V412F	V	+	1	0	PLEKHG4B	209279	0.012000	0.17670	0.009000	0.14445	0.737000	0.42083	-0.185000	0.09684	-0.182000	0.10602	-1.200000	0.01667	GTC		0.622	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		T	156279	G	T	156279	3	4	143	1	0	0	0	0	1	0	0	0	12072	1145	40	3	1264	3	PLEKHG4B	5	156279	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09		156279	180758981	25	7899											
CDH10	1008	genome.wustl.edu	37	5	24535261	24535261	+	Silent	SNP	C	C	T	rs188355658		TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr5:24535261C>T	ENST00000264463.4	-	5	1281	c.774G>A	c.(772-774)acG>acA	p.T258T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	258	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T258T(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CATCTGTCAGCGTGATGTTCA	0.488										HNSCC(23;0.051)			C|||	1	0.000199681	0	0.0014	5008	,	,		14653	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	5											195	155	169					5																	24535261		2203	4300	6503	24571018	SO:0001819	synonymous_variant	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.774G>A	5.37:g.24535261C>T			24571018	Q9ULB3	Silent	SNP	ENST00000264463.4	37	CCDS3892.1																																																																																				0.488	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		T	24535261	C	T	24535261	2	4	143	1	0	0	0	0	0	0	0	1	3096	755	27	1		1	CDH10	5	24535261	Silent	SNP	C	TCGA-13-1499-01A-01W-0549-09	24378982	24535261	156379999	26	7900											
DHX29	54505	genome.wustl.edu	37	5	54581181	54581181	+	Silent	SNP	A	A	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr5:54581181A>G	ENST00000251636.5	-	10	1444	c.1296T>C	c.(1294-1296)gaT>gaC	p.D432D	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	432						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.D432D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTTGCATGCCATCTTCTGTTA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	5											73	65	68					5																	54581181		2203	4300	6503	54616938	SO:0001819	synonymous_variant	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1296T>C	5.37:g.54581181A>G			54616938	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	CCDS34158.1																																																																																				0.403	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		G	54581181	A	G	54581181	2	3	143	1	0	0	0	0	0	0	0	1	4503	214	8	4		4	DHX29	5	54581181	Silent	SNP	A	TCGA-13-1499-01A-01W-0549-09	30045920	54581181	126334079	27	7901											
PCDHA4	56144	genome.wustl.edu	37	5	140188833	140188833	+	Silent	SNP	G	G	C			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr5:140188833G>C	ENST00000530339.1	+	1	2061	c.2061G>C	c.(2059-2061)gtG>gtC	p.V687V	PCDHA4_ENST00000512229.2_Silent_p.V687V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.V687V|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	687					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V687V(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGCTGTGGGTCCCGATG	0.647																																																1	Substitution - coding silent(1)	ovary(1)	5											62	58	59					5																	140188833		2203	4300	6503	140169017	SO:0001819	synonymous_variant	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2061G>C	5.37:g.140188833G>C			140169017	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																				0.647	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		C	140188833	G	C	140188833	2	2	143	1	0	0	0	0	0	0	0	1	11526	1335	47	3		3	PCDHA4	5	140188833	Silent	SNP	G	TCGA-13-1499-01A-01W-0549-09	85607652	140188833	40726427	28	7902											
PCDHA10	56139	genome.wustl.edu	37	5	140237743	140237743	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr5:140237743G>A	ENST00000307360.5	+	1	2110	c.2110G>A	c.(2110-2112)Gcg>Acg	p.A704T	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	704					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A704T(1)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCATCTGCGCGGTGTCCAG	0.687																																																1	Substitution - Missense(1)	ovary(1)	5											31	25	27					5																	140237743		1322	2291	3613	140217927	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2110G>A	5.37:g.140237743G>A	ENSP00000304234:p.Ala704Thr		140217927	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604821	0.28623	.	.	ENSG00000250120	ENST00000307360	T	0.17213	2.29	3.66	0.421	0.16451	.	.	.	.	.	T	0.35008	0.0917	M	0.89534	3.04	0.20975	N	0.999811	P;D	0.58620	0.871;0.983	B;P	0.50109	0.306;0.631	T	0.34329	-0.9833	9	0.42905	T	0.14	.	12.61	0.56546	0.0:0.0:0.4068:0.5932	.	704;704	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	T	704	ENSP00000304234:A704T	ENSP00000304234:A704T	A	+	1	0	PCDHA10	140217927	0.624000	0.27102	0.999000	0.59377	0.173000	0.22820	0.945000	0.29056	0.299000	0.22661	-0.500000	0.04577	GCG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		A	140237743	G	A	140237743	3	1	143	1	0	0	0	0	1	0	0	0	11520	1087	38	1	2112	1	PCDHA10	5	140237743	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	48910	140237743	40677517	29	7903											
PCDHGA5	56110	genome.wustl.edu	37	5	140745301	140745301	+	Silent	SNP	T	T	G	rs145748099	byFrequency	TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr5:140745301T>G	ENST00000518069.1	+	1	1404	c.1404T>G	c.(1402-1404)ggT>ggG	p.G468G	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	468	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G468G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCAGAGGTGTCTCTATCT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	5											111	120	117					5																	140745301		1953	4159	6112	140725485	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1404T>G	5.37:g.140745301T>G			140725485	Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	CCDS54925.1																																																																																				0.537	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		G	140745301	T	G	140745301	2	3	143	1	0	0	0	0	0	0	0	1	11557	1683	59	5		5	PCDHGA5	5	140745301	Silent	SNP	T	TCGA-13-1499-01A-01W-0549-09	507558	140745301	40169959	30	7904											
NQO2	4835	genome.wustl.edu	37	6	3015782	3015782	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr6:3015782A>T	ENST00000338130.2	+	8	1034	c.322A>T	c.(322-324)Agc>Tgc	p.S108C	NQO2_ENST00000380455.4_Missense_Mutation_p.S108C|NQO2_ENST00000380454.4_Intron|NQO2_ENST00000380441.1_Intron|NQO2_ENST00000380430.1_Missense_Mutation_p.S108C			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	108					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)	p.S108C(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	GTACTGGTTCAGCGTGCCAGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	6											77	73	75					6																	3015782		2203	4300	6503	2960781	SO:0001583	missense	4835			U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"NAD(P)H menadione oxidoreductase 2, dioxin-inducible"	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.322A>T	6.37:g.3015782A>T	ENSP00000337773:p.Ser108Cys		2960781	B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	37	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326386	0.81690	.	.	ENSG00000124588	ENST00000380472;ENST00000397717;ENST00000338130;ENST00000380455;ENST00000380430	T;T;T;T;T	0.12465	2.68;2.68;2.78;2.78;2.78	5.52	4.33	0.51752	Flavodoxin-like fold (1);	0.171014	0.64402	D	0.000006	T	0.35566	0.0936	H	0.94385	3.53	0.39923	D	0.974185	D	0.89917	1.0	D	0.80764	0.994	T	0.50215	-0.8854	10	0.72032	D	0.01	-24.6106	10.5148	0.44883	0.8555:0.0:0.0:0.1445	.	108	P16083	NQO2_HUMAN	C	108	ENSP00000369839:S108C;ENSP00000380829:S108C;ENSP00000337773:S108C;ENSP00000369822:S108C;ENSP00000369795:S108C	ENSP00000337773:S108C	S	+	1	0	NQO2	2960781	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	4.556000	0.60775	0.892000	0.36259	0.460000	0.39030	AGC		0.542	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			T	3015782	A	T	3015782	3	4	143	1	0	0	0	0	1	0	0	0	10612	188	7	5	336	5	NQO2	6	3015782	Missense_Mutation	SNP	A	TCGA-13-1499-01A-01W-0549-09		3015782	168099285	31	7905											
SLC17A3	10786	genome.wustl.edu	37	6	25862239	25862239	+	Intron	SNP	A	A	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr6:25862239A>T	ENST00000360657.3	-	3	589				SLC17A3_ENST00000397060.4_Missense_Mutation_p.S108T|SLC17A3_ENST00000361703.6_Intron			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3						drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTTGAGGAGACCAGTCATAC	0.458																																																0			6											67	65	65					6																	25862239		2076	4203	6279	25970218	SO:0001627	intron_variant	10786			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.303+221T>A	6.37:g.25862239A>T			25970218	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925706	0.34002	.	.	ENSG00000124564	ENST00000397060	T	0.63417	-0.04	3.58	2.38	0.29361	.	.	.	.	.	T	0.45175	0.1329	L	0.58925	1.835	0.58432	D	0.999999	P;P	0.41313	0.725;0.745	P;P	0.46275	0.51;0.491	T	0.38757	-0.9646	9	0.33141	T	0.24	.	6.2241	0.20698	0.2284:0.0:0.0:0.7716	.	89;108	B7Z3L7;B7Z511	.;.	T	108	ENSP00000380250:S108T	ENSP00000380250:S108T	S	-	1	0	SLC17A3	25970218	0.978000	0.34361	0.709000	0.30452	0.313000	0.28021	0.806000	0.27126	0.717000	0.32145	-0.445000	0.05633	TCT		0.458	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			T	25862239	A	T	25862239	1	4	143	0	1	0	0	0	0	0	0	0	14421	275	10	5		5	SLC17A3	6	25862239	Intron	SNP	A	TCGA-13-1499-01A-01W-0549-09	22846457	25862239	145252828	32	7906											
HIST1H4H	8365	genome.wustl.edu	37	6	26285681	26285681	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr6:26285681G>A	ENST00000377727.1	-	1	56	c.47C>T	c.(46-48)gCt>gTt	p.A16V	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.A16V	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	16					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.A16V(1)		lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						ATGACGCTTAGCTCCTCCCTT	0.512										HNSCC(76;0.23)																																						1	Substitution - Missense(1)	ovary(1)	6											98	96	97					6																	26285681		2203	4300	6503	26393660	SO:0001583	missense	8365			X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"Histones / Replication-dependent"	4788	protein-coding gene	gene with protein product		602828	"H4 histone family, member H", "histone 1, H4h"	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.47C>T	6.37:g.26285681G>A	ENSP00000366956:p.Ala16Val		26393660	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377727.1	37	CCDS4604.1	.	.	.	.	.	.	.	.	.	.	.	18.68	3.675643	0.67928	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	.	.	.	4.4	4.4	0.53042	.	0.000000	0.50627	U	0.000110	T	0.67571	0.2907	.	.	.	0.40381	D	0.979443	.	.	.	.	.	.	T	0.72459	-0.4287	6	0.62326	D	0.03	.	14.8602	0.70376	0.0:0.0:1.0:0.0	.	.	.	.	V	16	.	ENSP00000289352:A16V	A	-	2	0	HIST1H4H	26393660	1.000000	0.71417	0.133000	0.22050	0.002000	0.02628	9.724000	0.98775	2.181000	0.69327	0.491000	0.48974	GCT		0.512	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		A	26285681	G	A	26285681	3	1	143	1	0	0	0	0	1	0	0	0	7172	971	34	2	268	2	HIST1H4H	6	26285681	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	423442	26285681	144829386	33	7907											
FANCE	2178	genome.wustl.edu	37	6	35423981	35423981	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr6:35423981C>T	ENST00000229769.2	+	2	891	c.706C>T	c.(706-708)Cat>Tat	p.H236Y		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	236	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.H236Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GAGACCCGAACATAAGTCACT	0.527			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"Fanconi anemia, complementation group E"		L	1	Substitution - Missense(1)	ovary(1)	6											118	106	110					6																	35423981		2203	4300	6503	35531959	SO:0001583	missense	2178	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"Fanconi anemia, complementation groups"	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.706C>T	6.37:g.35423981C>T	ENSP00000229769:p.His236Tyr		35531959	A8K907|Q4ZGH2	Missense_Mutation	SNP	ENST00000229769.2	37	CCDS4805.1	.	.	.	.	.	.	.	.	.	.	C	9.091	1.001694	0.19121	.	.	ENSG00000112039	ENST00000229769	T	0.42900	0.96	4.47	1.56	0.23342	.	2.595200	0.01109	N	0.005556	T	0.08891	0.0220	N	0.14661	0.345	0.09310	N	1	B	0.32829	0.386	B	0.23018	0.043	T	0.10590	-1.0623	10	0.41790	T	0.15	.	4.0543	0.09810	0.1836:0.6137:0.0:0.2027	.	236	Q9HB96	FANCE_HUMAN	Y	236	ENSP00000229769:H236Y	ENSP00000229769:H236Y	H	+	1	0	FANCE	35531959	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.651000	0.05372	0.528000	0.28580	-0.258000	0.10820	CAT		0.527	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			T	35423981	C	T	35423981	3	4	143	1	0	0	0	0	1	0	0	0	5666	478	17	2	712	2	FANCE	6	35423981	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	9138300	35423981	135691086	34	7908											
MDN1	23195	genome.wustl.edu	37	6	90422426	90422426	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr6:90422426C>A	ENST00000369393.3	-	48	7413	c.7298G>T	c.(7297-7299)gGa>gTa	p.G2433V	MDN1_ENST00000428876.1_Missense_Mutation_p.G2433V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2433					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.G2433V(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGCCACAGTCCCATGCCAAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											95	93	94					6																	90422426		2203	4300	6503	90479147	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7298G>T	6.37:g.90422426C>A	ENSP00000358400:p.Gly2433Val		90479147	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777378	0.70107	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03553	3.89;3.89	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.02767	0.0083	N	0.24115	0.695	0.80722	D	1	P	0.43024	0.798	B	0.43478	0.421	T	0.56372	-0.7990	10	0.72032	D	0.01	.	19.9336	0.97129	0.0:1.0:0.0:0.0	.	2433	Q9NU22	MDN1_HUMAN	V	2433	ENSP00000358400:G2433V;ENSP00000413970:G2433V	ENSP00000358400:G2433V	G	-	2	0	MDN1	90479147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.027000	0.76463	2.717000	0.92951	0.563000	0.77884	GGA		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90422426	C	A	90422426	3	1	143	1	0	0	0	0	1	0	0	0	9415	855	30	3	9712	3	MDN1	6	90422426	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	54998445	90422426	80692641	35	7909											
TIAM2	26230	genome.wustl.edu	37	6	155450467	155450467	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr6:155450467C>T	ENST00000461783.3	+	6	1383	c.110C>T	c.(109-111)gCa>gTa	p.A37V	TIAM2_ENST00000456144.1_Missense_Mutation_p.A37V|TIAM2_ENST00000318981.5_Missense_Mutation_p.A37V|TIAM2_ENST00000529824.2_Missense_Mutation_p.A37V|TIAM2_ENST00000360366.4_Missense_Mutation_p.A37V|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	37					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A37V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGCATTCATGCAAAAGAGGAA	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											86	81	83					6																	155450467		2203	4300	6503	155492159	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.110C>T	6.37:g.155450467C>T	ENSP00000437188:p.Ala37Val		155492159	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678944	0.29783	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000545347;ENST00000538270;ENST00000535231;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05649	3.52;3.41;3.48;3.52;3.52;3.48	5.63	4.75	0.60458	.	0.164580	0.53938	D	0.000044	T	0.03390	0.0098	L	0.42245	1.32	0.80722	D	1	B	0.19200	0.034	B	0.17098	0.017	T	0.16188	-1.0411	10	0.72032	D	0.01	.	12.2616	0.54652	0.0:0.9219:0.0:0.0781	.	37	Q8IVF5	TIAM2_HUMAN	V	37;283;37;37;37;37;37;37;37;37;37	ENSP00000437188:A37V;ENSP00000434901:A37V;ENSP00000407746:A37V;ENSP00000327315:A37V;ENSP00000353528:A37V;ENSP00000433348:A37V	ENSP00000327315:A37V	A	+	2	0	TIAM2	155492159	0.518000	0.26234	0.170000	0.22879	0.148000	0.21650	2.147000	0.42226	2.659000	0.90383	0.561000	0.74099	GCA		0.463	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		T	155450467	C	T	155450467	3	4	143	1	0	0	0	0	1	0	0	0	15891	710	25	2	112	2	TIAM2	6	155450467	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	65028041	155450467	15664600	36	7910											
ZFPM2	23414	genome.wustl.edu	37	8	106456538	106456538	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr8:106456538A>G	ENST00000407775.2	+	3	480	c.230A>G	c.(229-231)gAa>gGa	p.E77G	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	77					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E77G(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGACAGCAGAATCAGATGGG	0.468																																																1	Substitution - Missense(1)	ovary(1)	8											78	83	81					8																	106456538		1940	4159	6099	106525714	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.230A>G	8.37:g.106456538A>G	ENSP00000384179:p.Glu77Gly		106525714	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147582	0.77888	.	.	ENSG00000169946	ENST00000407775	T	0.21543	2.0	5.87	5.87	0.94306	.	0.086984	0.41712	D	0.000835	T	0.19967	0.0480	L	0.38175	1.15	0.80722	D	1	P	0.34522	0.455	B	0.32211	0.142	T	0.02093	-1.1215	10	0.87932	D	0	.	16.2496	0.82475	1.0:0.0:0.0:0.0	.	77	Q8WW38	FOG2_HUMAN	G	77	ENSP00000384179:E77G	ENSP00000384179:E77G	E	+	2	0	ZFPM2	106525714	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.649000	0.91067	2.371000	0.80710	0.533000	0.62120	GAA		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			G	106456538	A	G	106456538	3	3	143	1	0	0	0	0	1	0	0	0	17658	246	9	4	240	4	ZFPM2	8	106456538	Missense_Mutation	SNP	A	TCGA-13-1499-01A-01W-0549-09		106456538	39907484	37	7911											
FANCC	2176	genome.wustl.edu	37	9	98002989	98002989	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr9:98002989C>A	ENST00000289081.3	-	4	541	c.287G>T	c.(286-288)tGt>tTt	p.C96F	FANCC_ENST00000375305.1_Missense_Mutation_p.C96F	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	96					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C96F(1)		kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GTTAATTAGACAACATAAGCA	0.289			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	1	Substitution - Missense(1)	ovary(1)	9											76	79	78					9																	98002989		2201	4298	6499	97042810	SO:0001583	missense	2176	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.287G>T	9.37:g.98002989C>A	ENSP00000289081:p.Cys96Phe		97042810	B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639789	0.67244	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.66280	-0.2;-0.2;-0.2	5.25	5.25	0.73442	.	0.051694	0.85682	D	0.000000	T	0.78136	0.4236	M	0.65498	2.005	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79843	-0.1632	10	0.87932	D	0	-11.5466	17.2177	0.86948	0.0:1.0:0.0:0.0	.	96;96	B1ALR7;Q00597	.;FANCC_HUMAN	F	96	ENSP00000289081:C96F;ENSP00000364454:C96F;ENSP00000406908:C96F	ENSP00000289081:C96F	C	-	2	0	FANCC	97042810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.383000	0.44354	2.724000	0.93272	0.563000	0.77884	TGT		0.289	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		A	98002989	C	A	98002989	3	1	143	1	0	0	0	0	1	0	0	0	5664	478	17	3	1437	3	FANCC	9	98002989	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09		98002989	43210442	38	7912											
PTPN3	5774	genome.wustl.edu	37	9	112185023	112185023	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr9:112185023G>A	ENST00000374541.2	-	13	1215	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000412145.1_Missense_Mutation_p.R240C	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	371					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.R371C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGAGGGGAACGAGAAGGCAGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	9											179	162	168					9																	112185023		2203	4300	6503	111224844	SO:0001583	missense	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1111C>T	9.37:g.112185023G>A	ENSP00000363667:p.Arg371Cys		111224844	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491005	0.84962	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	T;T	0.61859	0.07;0.07	5.77	4.87	0.63330	.	0.054357	0.64402	N	0.000001	T	0.71863	0.3390	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.75150	-0.3419	10	0.66056	D	0.02	.	16.2034	0.82103	0.0:0.0:0.8659:0.1341	.	371	P26045	PTN3_HUMAN	C	371;240;371	ENSP00000416654:R240C;ENSP00000363667:R371C	ENSP00000363667:R371C	R	-	1	0	PTPN3	111224844	1.000000	0.71417	0.983000	0.44433	0.916000	0.54674	3.347000	0.52200	1.438000	0.47492	-0.188000	0.12872	CGT		0.418	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			A	112185023	G	A	112185023	3	1	143	1	0	0	0	0	1	0	0	0	12792	1058	37	1	1686	1	PTPN3	9	112185023	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	14182034	112185023	29028408	39	7913											
TNKS2	80351	genome.wustl.edu	37	10	93602091	93602091	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr10:93602091G>C	ENST00000371627.4	+	16	2381	c.2002G>C	c.(2002-2004)Gat>Cat	p.D668H		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	668					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D668H(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GTCTTCTCCTGATAATGTAAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	10											146	130	135					10																	93602091		2203	4300	6503	93592071	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2002G>C	10.37:g.93602091G>C	ENSP00000360689:p.Asp668His		93592071	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043088	0.93685	.	.	ENSG00000107854	ENST00000371627	T	0.66815	-0.23	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000006	T	0.75170	0.3813	L	0.35793	1.09	0.80722	D	1	D	0.53619	0.961	P	0.62014	0.897	T	0.75465	-0.3308	10	0.62326	D	0.03	.	20.1595	0.98130	0.0:0.0:1.0:0.0	.	668	Q9H2K2	TNKS2_HUMAN	H	668	ENSP00000360689:D668H	ENSP00000360689:D668H	D	+	1	0	TNKS2	93592071	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.813000	0.99286	2.847000	0.97988	0.591000	0.81541	GAT		0.418	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		C	93602091	G	C	93602091	3	2	143	1	0	0	0	0	1	0	0	0	16321	1290	45	3	2064	3	TNKS2	10	93602091	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09		93602091	41932656	40	7914											
SLC1A2	6506	genome.wustl.edu	37	11	35333940	35333940	+	Silent	SNP	C	C	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr11:35333940C>A	ENST00000278379.3	-	4	648	c.366G>T	c.(364-366)gtG>gtT	p.V122V	SLC1A2_ENST00000606205.1_Silent_p.V122V|SLC1A2_ENST00000395753.1_Silent_p.V113V|SLC1A2_ENST00000395750.1_Silent_p.V113V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	122					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V122V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			ACATGTAATACACCATGGCTC	0.507																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)											1	Substitution - coding silent(1)	ovary(1)	11											129	121	124					11																	35333940		2202	4298	6500	35290516	SO:0001819	synonymous_variant	6506			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.366G>T	11.37:g.35333940C>A			35290516	B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	CCDS31459.1																																																																																				0.507	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		A	35333940	C	A	35333940	2	1	143	1	0	0	0	0	0	0	0	1	14435	465	17	3		3	SLC1A2	11	35333940	Silent	SNP	C	TCGA-13-1499-01A-01W-0549-09		35333940	99672576	41	7915											
OR5M1	390168	genome.wustl.edu	37	11	56380660	56380660	+	Silent	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr11:56380660G>A	ENST00000526538.1	-	1	318	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L107L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTGATCACCAGGGCGATGAAG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	11											177	162	167					11																	56380660		1989	4165	6154	56137236	SO:0001819	synonymous_variant	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.319C>T	11.37:g.56380660G>A			56137236	Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	CCDS53631.1																																																																																				0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		A	56380660	G	A	56380660	2	1	143	1	0	0	0	0	0	0	0	1	11172	991	35	2		2	OR5M1	11	56380660	Silent	SNP	G	TCGA-13-1499-01A-01W-0549-09	21046720	56380660	78625856	42	7916											
SHANK2	22941	genome.wustl.edu	37	11	70332194	70332194	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr11:70332194C>A	ENST00000423696.2	-	15	3103	c.3067G>T	c.(3067-3069)Gat>Tat	p.D1023Y	SHANK2_ENST00000449833.2_Missense_Mutation_p.D807Y|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1403Y|SHANK2_ENST00000409161.1_Missense_Mutation_p.D806Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1023					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.D807Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAATCCTCATCCAAGTCCACG	0.562																																																1	Substitution - Missense(1)	ovary(1)	11											62	71	68					11																	70332194		2200	4294	6494	70009842	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3067G>T	11.37:g.70332194C>A	ENSP00000394536:p.Asp1023Tyr		70009842	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	C	19.33	3.806452	0.70682	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.99;0.999;1.0	T	0.71059	-0.4702	10	0.87932	D	0	.	19.756	0.96291	0.0:1.0:0.0:0.0	.	1023;1402;807	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Y	807;806;681;1403;1023;1041;1026	ENSP00000399423:D807Y;ENSP00000386491:D806Y;ENSP00000402944:D681Y;ENSP00000345193:D1403Y;ENSP00000394536:D1023Y;ENSP00000294018:D1026Y	ENSP00000294018:D1026Y	D	-	1	0	SHANK2	70009842	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.205000	0.77881	2.665000	0.90641	0.655000	0.94253	GAT		0.562	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		A	70332194	C	A	70332194	3	1	143	1	0	0	0	0	1	0	0	0	14268	855	30	3	1353	3	SHANK2	11	70332194	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	13951534	70332194	64674322	43	7917											
ABCG4	64137	genome.wustl.edu	37	11	119031698	119031698	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr11:119031698C>T	ENST00000449422.2	+	15	2011	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	ABCG4_ENST00000307417.3_Missense_Mutation_p.A608V|ABCG4_ENST00000531739.1_Missense_Mutation_p.A608V	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	608	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A608V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATCCTCCGAGCGCTGGATGTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	11											113	97	102					11																	119031698		2200	4295	6495	118536908	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1823C>T	11.37:g.119031698C>T	ENSP00000406874:p.Ala608Val		118536908	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734552	0.48939	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.43294	0.95;0.95;0.95	5.42	2.02	0.26589	.	0.387908	0.28606	N	0.014755	T	0.34948	0.0915	L	0.42245	1.32	0.22858	N	0.998643	B	0.18461	0.028	B	0.15870	0.014	T	0.36601	-0.9741	10	0.59425	D	0.04	-10.6573	13.1861	0.59682	0.7279:0.2721:0.0:0.0	.	608	Q9H172	ABCG4_HUMAN	V	608	ENSP00000304111:A608V;ENSP00000406874:A608V;ENSP00000434318:A608V	ENSP00000304111:A608V	A	+	2	0	ABCG4	118536908	1.000000	0.71417	0.514000	0.27761	0.998000	0.95712	3.313000	0.51935	0.569000	0.29329	0.561000	0.74099	GCG		0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		T	119031698	C	T	119031698	3	4	143	1	0	0	0	0	1	0	0	0	70	768	27	1	1877	1	ABCG4	11	119031698	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	48699504	119031698	15974818	44	7918											
KIAA0748	9840	genome.wustl.edu	37	12	55354975	55354975	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr12:55354975G>T	ENST00000449076.1	-	10	1676	c.1544C>A	c.(1543-1545)aCt>aAt	p.T515N	TESPA1_ENST00000316577.8_Missense_Mutation_p.T515N|TESPA1_ENST00000531122.1_Missense_Mutation_p.T377N|TESPA1_ENST00000524622.1_Missense_Mutation_p.T377N|TESPA1_ENST00000532804.1_Missense_Mutation_p.T377N|TESPA1_ENST00000524959.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	515					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.T377N(1)									GCCAGCAAAAGTCTGGTGGTG	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											143	170	161					12																	55354975		2186	4294	6480	53641242	SO:0001583	missense	9840			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1544C>A	12.37:g.55354975G>T	ENSP00000400892:p.Thr515Asn		53641242	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152271	0.38021	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.52526	0.66;0.66;0.69;0.69;0.66	4.06	-0.495	0.12030	.	2.209180	0.01914	N	0.040043	T	0.32376	0.0827	L	0.29908	0.895	0.09310	N	1	B	0.32620	0.378	B	0.29942	0.109	T	0.21827	-1.0234	10	0.66056	D	0.02	-0.2215	0.3206	0.00302	0.2988:0.1962:0.3059:0.1991	.	515	A2RU30	K0748_HUMAN	N	377;377;515;515;377	ENSP00000435622:T377N;ENSP00000432030:T377N;ENSP00000400892:T515N;ENSP00000312679:T515N;ENSP00000433098:T377N	ENSP00000312679:T515N	T	-	2	0	KIAA0748	53641242	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.231000	0.17872	-0.075000	0.12798	0.650000	0.86243	ACT		0.502	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		T	55354975	G	T	55354975	3	4	143	1	0	0	0	0	1	0	0	0	8190	1029	36	3	25	3	KIAA0748	12	55354975	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09		55354975	78496920	45	7919											
FLT1	2321	genome.wustl.edu	37	13	28980000	28980000	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr13:28980000A>G	ENST00000282397.4	-	11	1719	c.1468T>C	c.(1468-1470)Ttt>Ctt	p.F490L	FLT1_ENST00000539099.1_Missense_Mutation_p.F490L|FLT1_ENST00000541932.1_Missense_Mutation_p.F490L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	490	Ig-like C2-type 5.			F -> S (in Ref. 3; AAC16449). {ECO:0000305}.	blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.F490L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCAGGATAAAGGACTCTTCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	13											155	151	152					13																	28980000		2203	4300	6503	27878000	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1468T>C	13.37:g.28980000A>G	ENSP00000282397:p.Phe490Leu		27878000	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	8.333	0.826839	0.16749	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.74315	-0.83;-0.22;-0.16	5.73	3.29	0.37713	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.365568	0.31797	N	0.007052	T	0.61540	0.2355	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.001;0.001	B;B;B;B	0.11329	0.003;0.003;0.003;0.006	T	0.43261	-0.9402	10	0.15499	T	0.54	.	8.351	0.32303	0.7788:0.0:0.2212:0.0	.	490;490;490;490	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	L	490	ENSP00000282397:F490L;ENSP00000437631:F490L;ENSP00000442630:F490L	ENSP00000282397:F490L	F	-	1	0	FLT1	27878000	0.992000	0.36948	0.011000	0.14972	0.793000	0.44817	1.762000	0.38451	0.510000	0.28216	0.533000	0.62120	TTT		0.378	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			G	28980000	A	G	28980000	3	3	143	1	0	0	0	0	1	0	0	0	5941	72	3	4	2891	4	FLT1	13	28980000	Missense_Mutation	SNP	A	TCGA-13-1499-01A-01W-0549-09		28980000	86189878	46	7920											
CKAP2	26586	genome.wustl.edu	37	13	53048156	53048156	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr13:53048156A>G	ENST00000378037.5	+	8	1832	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S	CKAP2_ENST00000258607.5_Missense_Mutation_p.N580S|CKAP2_ENST00000490903.1_Missense_Mutation_p.N532S	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.N580S(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAAACCCCCAATACAGAAACG	0.328																																																1	Substitution - Missense(1)	ovary(1)	13											63	63	63					13																	53048156		2203	4299	6502	51946157	SO:0001583	missense	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1742A>G	13.37:g.53048156A>G	ENSP00000367276:p.Asn581Ser		51946157		Missense_Mutation	SNP	ENST00000378037.5	37	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	5.300	0.240735	0.10077	.	.	ENSG00000136108	ENST00000258607;ENST00000378037;ENST00000490903	T;T;T	0.20881	2.04;2.04;2.04	5.91	-4.77	0.03219	.	0.947664	0.08948	N	0.870584	T	0.08846	0.0219	N	0.05230	-0.09	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.08055	0.003;0.002;0.002	T	0.42832	-0.9428	10	0.14656	T	0.56	-1.6384	12.5103	0.56002	0.5196:0.0:0.4804:0.0	.	532;581;580	E9PD90;Q8WWK9;B2RMQ4	.;CKAP2_HUMAN;.	S	580;581;532	ENSP00000258607:N580S;ENSP00000367276:N581S;ENSP00000417830:N532S	ENSP00000258607:N580S	N	+	2	0	CKAP2	51946157	0.008000	0.16893	0.000000	0.03702	0.358000	0.29455	0.690000	0.25451	-1.119000	0.02958	-0.256000	0.11100	AAT		0.328	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			G	53048156	A	G	53048156	3	3	143	1	0	0	0	0	1	0	0	0	3442	101	4	4	1772	4	CKAP2	13	53048156	Missense_Mutation	SNP	A	TCGA-13-1499-01A-01W-0549-09	24068156	53048156	62121722	47	7921											
RBM26	64062	genome.wustl.edu	37	13	79933778	79933778	+	Silent	SNP	T	T	G	rs372998044		TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr13:79933778T>G	ENST00000438737.2	-	10	1901	c.1461A>C	c.(1459-1461)tcA>tcC	p.S487S	RBM26_ENST00000438724.1_Silent_p.S487S|RBM26_ENST00000267229.7_Silent_p.S487S			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	487					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S487S(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCCTTGATTCTGAGTCCACTA	0.343																																																1	Substitution - coding silent(1)	ovary(1)	13											151	143	146					13																	79933778		2203	4300	6503	78831779	SO:0001819	synonymous_variant	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1461A>C	13.37:g.79933778T>G			78831779	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37																																																																																					0.343	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		G	79933778	T	G	79933778	2	3	143	1	0	0	0	0	0	0	0	1	13129	1567	55	5		5	RBM26	13	79933778	Silent	SNP	T	TCGA-13-1499-01A-01W-0549-09	26885622	79933778	35236100	48	7922											
KIAA0317	9870	genome.wustl.edu	37	14	75150179	75150179	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr14:75150179G>A	ENST00000356357.4	-	5	816	c.301C>T	c.(301-303)Cac>Tac	p.H101Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	101					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H101Y(1)									TGAGAGATGTGAACTCTTAGT	0.507																																																1	Substitution - Missense(1)	ovary(1)	14											107	100	103					14																	75150179		1943	4141	6084	74219932	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.301C>T	14.37:g.75150179G>A	ENSP00000348714:p.His101Tyr		74219932	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481318	0.63849	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.50001	0.76;0.76	5.68	5.68	0.88126	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.090386	0.85682	D	0.000000	T	0.39145	0.1067	N	0.22421	0.69	0.45946	D	0.998777	P;B	0.42296	0.775;0.027	B;B	0.38327	0.271;0.085	T	0.40572	-0.9556	10	0.72032	D	0.01	.	19.7921	0.96463	0.0:0.0:1.0:0.0	.	101;101	O15033-2;O15033	.;K0317_HUMAN	Y	101	ENSP00000348714:H101Y;ENSP00000450458:H101Y	ENSP00000348714:H101Y	H	-	1	0	KIAA0317	74219932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.722000	0.68485	2.671000	0.90904	0.655000	0.94253	CAC		0.507	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		A	75150179	G	A	75150179	3	1	143	1	0	0	0	0	1	0	0	0	8167	1290	45	2	2234	2	KIAA0317	14	75150179	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09		75150179	32199361	49	7923											
C14orf178	283579	genome.wustl.edu	37	14	78236010	78236010	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr14:78236010G>T	ENST00000355883.3	+	3	567	c.358G>T	c.(358-360)Gcc>Tcc	p.A120S	C14orf178_ENST00000557011.1_3'UTR|C14orf178_ENST00000556047.1_3'UTR|C14orf178_ENST00000439131.2_Missense_Mutation_p.A90S	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	120								p.A120S(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		ctgtgaggatgccatggggta	0.398																																																1	Substitution - Missense(1)	ovary(1)	14											79	67	71					14																	78236010		2203	4300	6503	77305763	SO:0001583	missense	283579			AK098842	CCDS9868.1, CCDS53906.1	14q24.3	2012-03-13			ENSG00000197734	ENSG00000197734			26385	protein-coding gene	gene with protein product						12477932	Standard	NM_001173978		Approved	FLJ25976	uc021rwv.1	Q8N769	OTTHUMG00000171528	ENST00000355883.3:c.358G>T	14.37:g.78236010G>T	ENSP00000348145:p.Ala120Ser		77305763	Q2HIX2|Q3KNR7	Missense_Mutation	SNP	ENST00000355883.3	37	CCDS9868.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384168	0.42308	.	.	ENSG00000197734	ENST00000439131;ENST00000355883	T;T	0.55930	0.49;1.09	2.14	1.23	0.21249	.	.	.	.	.	T	0.28764	0.0713	N	0.08118	0	0.09310	N	1	B	0.31174	0.311	B	0.30646	0.118	T	0.21655	-1.0239	9	0.87932	D	0	.	4.7607	0.13106	0.1847:0.0:0.8153:0.0	.	120	Q8N769	CN178_HUMAN	S	90;120	ENSP00000407405:A90S;ENSP00000348145:A120S	ENSP00000348145:A120S	A	+	1	0	C14orf178	77305763	0.029000	0.19370	0.001000	0.08648	0.167000	0.22549	0.883000	0.28200	0.478000	0.27488	0.448000	0.29417	GCC		0.398	C14orf178-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413920.1	NM_174943		T	78236010	G	T	78236010	3	4	143	1	0	0	0	0	1	0	0	0	1761	1319	46	3	368	3	C14orf178	14	78236010	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	3085831	78236010	29113530	50	7924											
ZFP106	64397	genome.wustl.edu	37	15	42742522	42742522	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr15:42742522C>T	ENST00000263805.4	-	2	2205	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	627					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E627K(1)									CGGTCATCCTCCTCTTTCTCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	15											191	188	189					15																	42742522		2203	4299	6502	40529814	SO:0001583	missense	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1879G>A	15.37:g.42742522C>T	ENSP00000263805:p.Glu627Lys		40529814	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	1.261	-0.615906	0.03663	.	.	ENSG00000103994	ENST00000263805	T	0.23754	1.89	5.02	-0.335	0.12662	.	1.313510	0.04769	N	0.427731	T	0.14056	0.0340	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.11329	0.006;0.002	T	0.27536	-1.0071	10	0.12103	T	0.63	-0.1038	7.3635	0.26760	0.0:0.54:0.2106:0.2494	.	410;627	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	K	627	ENSP00000263805:E627K	ENSP00000263805:E627K	E	-	1	0	ZFP106	40529814	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	0.062000	0.14389	0.071000	0.16664	0.650000	0.86243	GAG		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		T	42742522	C	T	42742522	3	4	143	1	0	0	0	0	1	0	0	0	17637	864	30	2	3844	2	ZFP106	15	42742522	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09		42742522	59788870	51	7925											
CORO2B	10391	genome.wustl.edu	37	15	69003075	69003075	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr15:69003075G>A	ENST00000566799.1	+	4	367	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	CORO2B_ENST00000540068.1_Missense_Mutation_p.R108Q|CORO2B_ENST00000261861.5_Missense_Mutation_p.R108Q|CORO2B_ENST00000543950.1_Missense_Mutation_p.R108Q			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	113					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.R113Q(2)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGCAGGTGCGGATCTGGGAG	0.652																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	15											23	22	22					15																	69003075		2198	4295	6493	66790129	SO:0001583	missense	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.338G>A	15.37:g.69003075G>A	ENSP00000454783:p.Arg113Gln		66790129	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	36	5.692932	0.96793	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.67865	-0.29;-0.29	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.052086	0.64402	D	0.000001	T	0.73273	0.3566	L	0.46819	1.47	0.80722	D	1	D	0.55800	0.973	P	0.55087	0.768	T	0.73222	-0.4051	10	0.48119	T	0.1	-25.6916	18.4855	0.90827	0.0:0.0:1.0:0.0	.	113	Q9UQ03	COR2B_HUMAN	Q	113;108;108	ENSP00000446250:R108Q;ENSP00000443819:R108Q	ENSP00000261861:R113Q	R	+	2	0	CORO2B	66790129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.584000	0.98220	2.597000	0.87782	0.655000	0.94253	CGG		0.652	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		A	69003075	G	A	69003075	3	1	143	1	0	0	0	0	1	0	0	0	3757	1116	39	1	352	1	CORO2B	15	69003075	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	26260553	69003075	33528317	52	7926											
ABCA3	21	genome.wustl.edu	37	16	2358451	2358451	+	Splice_Site	SNP	C	C	T			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr16:2358451C>T	ENST00000301732.5	-	11	1985	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	429					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G429S(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AAACACTCACCTTTCGCCTCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	16											105	87	93					16																	2358451		2198	4300	6498	2298452	SO:0001630	splice_region_variant	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1285+1G>A	16.37:g.2358451C>T			2298452	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025491	0.75390	.	.	ENSG00000167972	ENST00000301732	T	0.76448	-1.02	5.65	4.71	0.59529	.	.	.	.	.	D	0.84701	0.5530	M	0.74258	2.255	0.80722	D	1	P;D	0.54601	0.943;0.967	P;P	0.58391	0.823;0.838	D	0.85066	0.0937	8	.	.	.	.	13.4101	0.60938	0.0:0.9239:0.0:0.0761	.	429;429	A7MBM9;Q99758	.;ABCA3_HUMAN	S	429	ENSP00000301732:G429S	.	G	-	1	0	ABCA3	2298452	1.000000	0.71417	0.992000	0.48379	0.044000	0.14063	7.200000	0.77838	1.389000	0.46526	0.650000	0.86243	GGC		0.552	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	Missense_Mutation	T	2358451	C	T	2358451	5	4	143	1	0	0	0	0	0	0	1	0	33	695	24	2	3921	2	ABCA3	16	2358451	Splice_Site	SNP	C	TCGA-13-1499-01A-01W-0549-09		2358451	87996302	53	7927											
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA;Sanger_PCR_WGA		dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	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	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	143	1	0	0	0	0	1	0	0	0	16381	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09		7577121	73618089	54	7928											
TP53	7157	genome.wustl.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	143	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	417	7577538	73617672	55	7929											
CCDC42	146849	genome.wustl.edu	37	17	8646962	8646962	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr17:8646962C>A	ENST00000293845.3	-	3	502	c.276G>T	c.(274-276)aaG>aaT	p.K92N	CCDC42_ENST00000539522.2_Missense_Mutation_p.K92N	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	92								p.K92N(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						ACTGCTCAGACTTCTGGATGT	0.587																																																1	Substitution - Missense(1)	ovary(1)	17											113	95	101					17																	8646962		2203	4300	6503	8587687	SO:0001583	missense	146849			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.276G>T	17.37:g.8646962C>A	ENSP00000293845:p.Lys92Asn		8587687	Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426064	0.62733	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.19394	2.15;2.15	4.25	1.17	0.20885	.	0.108387	0.40302	N	0.001137	T	0.37404	0.1002	M	0.72353	2.195	0.31496	N	0.665412	D	0.76494	0.999	D	0.72338	0.977	T	0.35025	-0.9805	10	0.36615	T	0.2	-41.2654	7.5199	0.27622	0.0:0.6236:0.0:0.3764	.	92	Q96M95	CCD42_HUMAN	N	92	ENSP00000293845:K92N;ENSP00000444359:K92N	ENSP00000293845:K92N	K	-	3	2	CCDC42	8587687	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.389000	0.20751	0.103000	0.17682	0.555000	0.69702	AAG		0.587	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		A	8646962	C	A	8646962	3	1	143	1	0	0	0	0	1	0	0	0	2814	564	20	3	694	3	CCDC42	17	8646962	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	1069424	8646962	72548248	56	7930											
PLXDC1	57125	genome.wustl.edu	37	17	37295999	37295999	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr17:37295999C>A	ENST00000315392.4	-	2	374	c.163G>T	c.(163-165)Gtg>Ttg	p.V55L	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.V55L|PLXDC1_ENST00000444911.2_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	55					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.V55L(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGCTCTGACACATGCCCAGGG	0.672																																																1	Substitution - Missense(1)	ovary(1)	17											57	56	57					17																	37295999		2203	4300	6503	34549525	SO:0001583	missense	57125			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.163G>T	17.37:g.37295999C>A	ENSP00000323927:p.Val55Leu		34549525	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	6.796	0.515835	0.12944	.	.	ENSG00000161381	ENST00000315392;ENST00000394316	T	0.22539	1.95	5.39	4.15	0.48705	.	1.533780	0.03730	N	0.253358	T	0.18759	0.0450	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23261	-1.0193	10	0.27785	T	0.31	-0.6937	8.9169	0.35587	0.0:0.8757:0.0:0.1243	.	55	Q8IUK5	PXDC1_HUMAN	L	55	ENSP00000323927:V55L	ENSP00000323927:V55L	V	-	1	0	PLXDC1	34549525	0.835000	0.29415	0.078000	0.20375	0.199000	0.23934	2.163000	0.42377	1.143000	0.42306	0.561000	0.74099	GTG		0.672	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		A	37295999	C	A	37295999	3	1	143	1	0	0	0	0	1	0	0	0	12117	478	17	3	1391	3	PLXDC1	17	37295999	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	28649037	37295999	43899211	57	7931											
ZNF236	7776	genome.wustl.edu	37	18	74563808	74563808	+	Silent	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr18:74563808G>A	ENST00000253159.8	+	3	468	c.270G>A	c.(268-270)ggG>ggA	p.G90G	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Silent_p.G92G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	90					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G90G(1)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCCACAGCGGGGAAGATCCTA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	18											120	118	119					18																	74563808		1896	4113	6009	72692796	SO:0001819	synonymous_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.270G>A	18.37:g.74563808G>A			72692796	B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	CCDS42447.1																																																																																				0.433	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74563808	G	A	74563808	2	1	143	1	0	0	0	0	0	0	0	1	17789	1219	43	2		2	ZNF236	18	74563808	Silent	SNP	G	TCGA-13-1499-01A-01W-0549-09		74563808	3513440	58	7932											
FBN3	84467	genome.wustl.edu	37	19	8191368	8191368	+	Silent	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr19:8191368G>A	ENST00000600128.1	-	20	2952	c.2538C>T	c.(2536-2538)tgC>tgT	p.C846C	FBN3_ENST00000601739.1_Silent_p.C846C|FBN3_ENST00000270509.2_Silent_p.C846C			Q75N90	FBN3_HUMAN	fibrillin 3	846	TB 4.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C846C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGCAGCGTTCGCAGGGGCTCC	0.657																																																1	Substitution - coding silent(1)	ovary(1)	19											20	23	22					19																	8191368		2203	4300	6503	8097368	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2538C>T	19.37:g.8191368G>A			8097368	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8191368	G	A	8191368	2	1	143	1	0	0	0	0	0	0	0	1	5704	1079	38	1		1	FBN3	19	8191368	Silent	SNP	G	TCGA-13-1499-01A-01W-0549-09		8191368	50937615	59	7933											
FBN3	84467	genome.wustl.edu	37	19	8206902	8206902	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr19:8206902G>A	ENST00000600128.1	-	7	1075	c.661C>T	c.(661-663)Cca>Tca	p.P221S	FBN3_ENST00000601739.1_Missense_Mutation_p.P221S|FBN3_ENST00000270509.2_Missense_Mutation_p.P221S			Q75N90	FBN3_HUMAN	fibrillin 3	221	TB 1.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P221S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTTCACATGGAAGGCCCCAG	0.647																																																1	Substitution - Missense(1)	ovary(1)	19											32	36	34					19																	8206902		2203	4300	6503	8112902	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.661C>T	19.37:g.8206902G>A	ENSP00000470498:p.Pro221Ser		8112902	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	18.42	3.620785	0.66787	.	.	ENSG00000142449	ENST00000270509	D	0.93859	-3.3	3.95	3.95	0.45737	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	U	0.000001	D	0.94443	0.8212	L	0.41961	1.31	0.41709	D	0.989446	D	0.56746	0.977	D	0.65573	0.936	D	0.94670	0.7856	10	0.51188	T	0.08	.	15.1368	0.72572	0.0:0.0:1.0:0.0	.	221	Q75N90	FBN3_HUMAN	S	221	ENSP00000270509:P221S	ENSP00000270509:P221S	P	-	1	0	FBN3	8112902	1.000000	0.71417	0.060000	0.19600	0.996000	0.88848	6.211000	0.72182	2.028000	0.59812	0.491000	0.48974	CCA		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8206902	G	A	8206902	3	1	143	1	0	0	0	0	1	0	0	0	5704	1174	41	2	8000	2	FBN3	19	8206902	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	15534	8206902	50922081	60	7934											
SNRPA	6626	genome.wustl.edu	37	19	41265387	41265387	+	Missense_Mutation	SNP	A	A	G	rs138535346		TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr19:41265387A>G	ENST00000243563.3	+	3	848	c.298A>G	c.(298-300)Acc>Gcc	p.T100A	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	100					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)	p.T100S(1)|p.T100A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GATGAAAGGCACCTTCGTGGA	0.587																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	19											100	89	93					19																	41265387		2203	4300	6503	45957227	SO:0001583	missense	6626			X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"RNA binding motif (RRM) containing"	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.298A>G	19.37:g.41265387A>G	ENSP00000243563:p.Thr100Ala		45957227		Missense_Mutation	SNP	ENST00000243563.3	37	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981458	0.74474	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.26067	1.76	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	M	0.88181	2.935	0.80722	D	1	B	0.12013	0.005	B	0.24701	0.055	T	0.39272	-0.9622	10	0.59425	D	0.04	-60.7119	15.2129	0.73241	1.0:0.0:0.0:0.0	.	100	P09012	SNRPA_HUMAN	A	100;21	ENSP00000243563:T100A	ENSP00000243563:T100A	T	+	1	0	SNRPA	45957227	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.026000	0.93700	2.233000	0.73108	0.533000	0.62120	ACC		0.587	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		G	41265387	A	G	41265387	3	3	143	1	0	0	0	0	1	0	0	0	14862	159	6	4	308	4	SNRPA	19	41265387	Missense_Mutation	SNP	A	TCGA-13-1499-01A-01W-0549-09	33058485	41265387	17863596	61	7935											
ARHGEF1	9138	genome.wustl.edu	37	19	42392892	42392892	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr19:42392892G>A	ENST00000354532.3	+	4	329	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.A76T|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.A76T|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.A61T|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.A61T	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	61	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A76T(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCACCTCATGGCCCTCCTGCA	0.652																																																1	Substitution - Missense(1)	ovary(1)	19											48	47	47					19																	42392892		2202	4300	6502	47084732	SO:0001583	missense	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.181G>A	19.37:g.42392892G>A	ENSP00000346532:p.Ala61Thr		47084732	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592098	0.86953	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.23	4.23	0.50019	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.090560	0.43260	D	0.000598	D	0.88299	0.6399	L	0.53249	1.67	0.32615	N	0.524094	D;D;D;D;D	0.76494	0.992;0.997;0.998;0.996;0.999	P;P;D;P;D	0.81914	0.903;0.888;0.995;0.889;0.956	D	0.90358	0.4371	10	0.62326	D	0.03	-18.1275	14.5452	0.68024	0.0:0.0:1.0:0.0	.	76;76;61;61;121	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	T	61;61;97;76;76	ENSP00000346532:A61T;ENSP00000344429:A61T;ENSP00000337261:A76T;ENSP00000367394:A76T	ENSP00000323044:A97T	A	+	1	0	ARHGEF1	47084732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.825000	0.62708	2.372000	0.80975	0.585000	0.79938	GCC		0.652	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		A	42392892	G	A	42392892	3	1	143	1	0	0	0	0	1	0	0	0	893	1203	42	2	240	2	ARHGEF1	19	42392892	Missense_Mutation	SNP	G	TCGA-13-1499-01A-01W-0549-09	1127505	42392892	16736091	62	7936											
TGM3	7053	genome.wustl.edu	37	20	2312705	2312705	+	Missense_Mutation	SNP	C	C	G	rs374109992		TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr20:2312705C>G	ENST00000381458.5	+	10	1454	c.1391C>G	c.(1390-1392)aCg>aGg	p.T464R		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	464					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.T464R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AAACCCAACACGCCATTTGCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	20											74	66	69					20																	2312705		2203	4300	6503	2260705	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1391C>G	20.37:g.2312705C>G	ENSP00000370867:p.Thr464Arg		2260705	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	3.768	-0.048297	0.07407	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.78364	-1.17	4.96	-4.02	0.04034	.	3.471750	0.00832	N	0.001673	T	0.50820	0.1638	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47971	-0.9075	10	0.10902	T	0.67	-0.5739	3.8711	0.09036	0.0903:0.3394:0.4295:0.1408	.	464	Q08188	TGM3_HUMAN	R	464	ENSP00000370867:T464R	ENSP00000370867:T464R	T	+	2	0	TGM3	2260705	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.206000	0.01231	-1.062000	0.03181	0.655000	0.94253	ACG		0.522	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		G	2312705	C	G	2312705	3	3	143	1	0	0	0	0	1	0	0	0	15831	536	19	3	1429	3	TGM3	20	2312705	Missense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09		2312705	60712815	63	7937											
CEP250	11190	genome.wustl.edu	37	20	34096010	34096010	+	Silent	SNP	C	C	G			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr20:34096010C>G	ENST00000397527.1	+	32	7617	c.6897C>G	c.(6895-6897)acC>acG	p.T2299T	CEP250_ENST00000342580.4_Silent_p.T2243T	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2299					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.T2299T(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGCGGAGTACCTTGGAGCAGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	20											112	110	111					20																	34096010		2203	4300	6503	33559424	SO:0001819	synonymous_variant	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6897C>G	20.37:g.34096010C>G			33559424	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																				0.567	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		G	34096010	C	G	34096010	2	3	143	1	0	0	0	0	0	0	0	1	3252	668	24	3		3	CEP250	20	34096010	Silent	SNP	C	TCGA-13-1499-01A-01W-0549-09	31783305	34096010	28929510	64	7938											
DSN1	79980	genome.wustl.edu	37	20	35396413	35396413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr20:35396413C>A	ENST00000426836.1	-	4	760	c.388G>T	c.(388-390)Gaa>Taa	p.E130*	DSN1_ENST00000373745.3_Nonsense_Mutation_p.E130*|DSN1_ENST00000373734.4_Nonsense_Mutation_p.E23*|DSN1_ENST00000373750.4_Nonsense_Mutation_p.E130*|DSN1_ENST00000373740.3_Nonsense_Mutation_p.E58*|DSN1_ENST00000448110.2_Nonsense_Mutation_p.E114*|DSN1_ENST00000473615.1_5'UTR	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	130					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.E130*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				CGTTTGCTTTCTGCTAAATCG	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	20											114	109	111					20																	35396413		2203	4300	6503	34829827	SO:0001587	stop_gained	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.388G>T	20.37:g.35396413C>A	ENSP00000389810:p.Glu130*		34829827	B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Nonsense_Mutation	SNP	ENST00000426836.1	37	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	39	7.614934	0.98390	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	5.37	4.41	0.53225	.	0.197940	0.42172	D	0.000758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-27.2972	11.6341	0.51194	0.0:0.8132:0.1867:0.0	.	.	.	.	X	130;130;114;63;130;58;23;114;130;30	.	ENSP00000362838:E63X	E	-	1	0	DSN1	34829827	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.431000	0.44775	1.471000	0.48121	0.650000	0.86243	GAA		0.388	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		A	35396413	C	A	35396413	4	1	143	1	0	0	0	0	0	1	0	0	4780	922	32	3	714	3	DSN1	20	35396413	Nonsense_Mutation	SNP	C	TCGA-13-1499-01A-01W-0549-09	1300403	35396413	27629107	65	7939											
XRCC6	2547	genome.wustl.edu	37	22	42049657	42049657	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chr22:42049657A>C	ENST00000359308.4	+	8	1909	c.1254A>C	c.(1252-1254)gaA>gaC	p.E418D	XRCC6_ENST00000360079.3_Missense_Mutation_p.E418D|XRCC6_ENST00000402580.3_Missense_Mutation_p.E377D|XRCC6_ENST00000405878.1_Missense_Mutation_p.E418D|XRCC6_ENST00000405506.1_Missense_Mutation_p.E368D|XRCC6_ENST00000428575.2_Missense_Mutation_p.E285D			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	418	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.E418D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CACAGGAAGAAGAGTTGGATG	0.488								Non-homologous end-joining																																								1	Substitution - Missense(1)	ovary(1)	22											106	101	103					22																	42049657		2203	4300	6503	40379603	SO:0001583	missense	2547			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1254A>C	22.37:g.42049657A>C	ENSP00000352257:p.Glu418Asp		40379603	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026940	0.54683	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	4.95	2.74	0.32292	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	M	0.83603	2.65	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.73452	-0.3978	9	0.37606	T	0.19	-31.8109	7.1484	0.25595	0.3105:0.0:0.6895:0.0	.	368;418;377;418	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	D	418;377;285;418;418;418;368	.	ENSP00000352257:E418D	E	+	3	2	XRCC6	40379603	0.989000	0.36119	0.998000	0.56505	0.299000	0.27559	0.272000	0.18644	1.061000	0.40601	-0.337000	0.08149	GAA		0.488	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		C	42049657	A	C	42049657	3	2	143	1	0	0	0	0	1	0	0	0	17457	69	3	5	1284	5	XRCC6	22	42049657	Missense_Mutation	SNP	A	TCGA-13-1499-01A-01W-0549-09		42049657	9254909	66	7940											
TCEAL8	90843	genome.wustl.edu	37	X	102508779	102508779	+	Silent	SNP	G	G	A			TCGA-13-1499-01A-01W-0549-09	TCGA-13-1499-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b4ce07b1-677e-4a9c-8f8e-2b7762487692	55f3ced3-2b89-4067-b0b6-7b282de945a2	g.chrX:102508779G>A	ENST00000372685.3	-	3	365	c.129C>T	c.(127-129)agC>agT	p.S43S	TCEAL8_ENST00000360000.4_Silent_p.S43S	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S43S(1)		kidney(2)|lung(1)|ovary(1)	4						CTGCTTCCTGGCTTACGCCTT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	X											156	136	143					X																	102508779		2203	4300	6503	102395435	SO:0001819	synonymous_variant	90843			AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.129C>T	X.37:g.102508779G>A			102395435		Silent	SNP	ENST00000372685.3	37	CCDS14504.1																																																																																				0.522	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1	NM_153333		A	102508779	G	A	102508779	2	1	143	1	0	0	0	0	0	0	0	1	15677	1194	42	2		2	TCEAL8	23	102508779	Silent	SNP	G	TCGA-13-1499-01A-01W-0549-09		102508779	52761781	67	7941											
BAI2	576	broad.mit.edu	37	1	32221906	32221906	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:32221906G>T	ENST00000373658.3	-	4	873	c.532C>A	c.(532-534)Cta>Ata	p.L178I	BAI2_ENST00000398538.1_Missense_Mutation_p.L166I|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398542.1_Missense_Mutation_p.L166I|BAI2_ENST00000398556.3_Missense_Mutation_p.L181I|BAI2_ENST00000527361.1_Missense_Mutation_p.L178I|BAI2_ENST00000373655.2_Missense_Mutation_p.L178I|BAI2_ENST00000398547.1_Missense_Mutation_p.L166I|BAI2_ENST00000257070.4_Missense_Mutation_p.L178I	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	178					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L178I(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGAAGGCTAGGGCAGCGGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											30	37	34					1																	32221906		2203	4299	6502	31994493	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.532C>A	1.37:g.32221906G>T	ENSP00000362762:p.Leu178Ile		31994493	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466630	0.26335	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.48201	1.48;1.68;0.87;0.87;1.85;0.82;0.82;0.9;1.45;1.32	5.08	5.08	0.68730	.	0.000000	0.32175	N	0.006469	T	0.37320	0.0999	L	0.43152	1.355	0.80722	D	1	P;P;P;P;P;B	0.46457	0.851;0.702;0.749;0.717;0.878;0.434	B;B;B;B;B;B	0.36845	0.116;0.234;0.234;0.102;0.234;0.081	T	0.23261	-1.0193	10	0.33940	T	0.23	.	13.9719	0.64245	0.0:0.1531:0.8469:0.0	.	166;178;166;166;178;178	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	I	181;166;178;178;166;178;178;166;171;212	ENSP00000381564:L181I;ENSP00000381555:L166I;ENSP00000362762:L178I;ENSP00000362759:L178I;ENSP00000381550:L166I;ENSP00000257070:L178I;ENSP00000435397:L178I;ENSP00000381548:L166I;ENSP00000410921:L171I;ENSP00000437219:L212I	ENSP00000257070:L178I	L	-	1	2	BAI2	31994493	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.174000	0.58256	2.536000	0.85505	0.462000	0.41574	CTA		0.622	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		T	32221906	G	T	32221906	3	4	144	1	0	0	0	0	1	0	0	0	1299	991	35	3	4345	3	BAI2	1	32221906	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08		32221906	217028715	1	7942											
KHDRBS1	10657	broad.mit.edu	37	1	32504195	32504195	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:32504195G>A	ENST00000327300.7	+	7	1317	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.E345K|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1									p.E384K(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGAAGGCTACGAAGGCTATTA	0.398																																					Ovarian(173;401 1982 12359 31110 42403)											1	Substitution - Missense(1)	ovary(1)	1											131	116	121					1																	32504195		2203	4300	6503	32276782	SO:0001583	missense	10657			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"GAP-associated tyrosine phosphoprotein p62 (Sam68)"	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1150G>A	1.37:g.32504195G>A	ENSP00000313829:p.Glu384Lys		32276782		Missense_Mutation	SNP	ENST00000327300.7	37	CCDS350.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271013	0.95429	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.50813	0.73;0.77	5.33	5.33	0.75918	.	0.458675	0.26457	N	0.024276	T	0.62344	0.2420	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.69078	0.995;0.997	P;P	0.58454	0.695;0.839	T	0.64402	-0.6416	10	0.72032	D	0.01	.	19.4098	0.94665	0.0:0.0:1.0:0.0	.	384;345	Q07666;Q07666-3	KHDR1_HUMAN;.	K	384;345;360	ENSP00000313829:E384K;ENSP00000417731:E345K	ENSP00000313829:E384K	E	+	1	0	KHDRBS1	32276782	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.891000	0.92485	2.670000	0.90874	0.655000	0.94253	GAA		0.398	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		A	32504195	G	A	32504195	3	1	144	1	0	0	0	0	1	0	0	0	8146	1059	37	1	1176	1	KHDRBS1	1	32504195	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	282289	32504195	216746426	2	7943											
ERMAP	114625	broad.mit.edu	37	1	43308368	43308368	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:43308368A>T	ENST00000372517.2	+	12	1137	c.893A>T	c.(892-894)tAt>tTt	p.Y298F	ERMAP_ENST00000328249.3_Missense_Mutation_p.Y208F|RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372514.3_Missense_Mutation_p.Y298F|RP11-342M1.3_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y298F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGGAGGTGTATGTGGGAGAC	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											164	142	150					1																	43308368		2203	4300	6503	43080955	SO:0001583	missense	114625			AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"Blood group antigens", "Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	15743	protein-coding gene	gene with protein product		609017	"Radin blood group", "Scianna blood group", "erythroblast membrane-associated protein", "erythroblast membrane-associated protein (RD and SC blood groups)"	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.893A>T	1.37:g.43308368A>T	ENSP00000361595:p.Tyr298Phe		43080955	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	CCDS475.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415468	0.25552	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.69040	-0.37;-0.37;-0.37	5.16	-3.44	0.04796	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.690210	0.02959	N	0.142793	T	0.41949	0.1181	N	0.10972	0.075	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.23048	-1.0199	10	0.62326	D	0.03	.	0.5823	0.00714	0.3687:0.1286:0.1577:0.3451	.	298	Q96PL5	ERMAP_HUMAN	F	298;298;208	ENSP00000361595:Y298F;ENSP00000361592:Y298F;ENSP00000332439:Y208F	ENSP00000332439:Y208F	Y	+	2	0	ERMAP	43080955	0.001000	0.12720	0.206000	0.23566	0.687000	0.40016	0.372000	0.20467	-0.485000	0.06754	-0.256000	0.11100	TAT		0.522	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		T	43308368	A	T	43308368	3	4	144	1	0	0	0	0	1	0	0	0	5234	449	16	5	931	5	ERMAP	1	43308368	Missense_Mutation	SNP	A	TCGA-13-1501-01A-01W-0545-08	10804173	43308368	205942253	3	7944											
EIF2B3	8891	broad.mit.edu	37	1	45341323	45341323	+	Silent	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:45341323G>C	ENST00000360403.2	-	9	1146	c.1020C>G	c.(1018-1020)gtC>gtG	p.V340V	EIF2B3_ENST00000372183.3_Silent_p.V340V	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	340					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)	p.V340V(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTGACGAATGGACTGGTGGTT	0.488																																					Colon(26;357 658 2581 11857 12657)											1	Substitution - coding silent(1)	ovary(1)	1											159	141	147					1																	45341323		2203	4300	6503	45113910	SO:0001819	synonymous_variant	8891			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1020C>G	1.37:g.45341323G>C			45113910	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	ENST00000360403.2	37	CCDS517.1	.	.	.	.	.	.	.	.	.	.	G	1.666	-0.510130	0.04231	.	.	ENSG00000070785	ENST00000439363	.	.	.	5.4	-2.16	0.07080	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43523	-0.9386	4	.	.	.	-13.0412	6.4688	0.21997	0.5453:0.1321:0.3226:0.0	.	.	.	.	C	161	.	.	S	-	2	0	EIF2B3	45113910	0.942000	0.31987	0.279000	0.24732	0.264000	0.26372	0.046000	0.14035	-0.241000	0.09681	0.655000	0.94253	TCC		0.488	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		C	45341323	G	C	45341323	2	2	144	1	0	0	0	0	0	0	0	1	5002	1161	41	3		3	EIF2B3	1	45341323	Silent	SNP	G	TCGA-13-1501-01A-01W-0545-08	2032955	45341323	203909298	4	7945											
POMGNT1	55624	broad.mit.edu	37	1	46659015	46659015	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:46659015G>C	ENST00000371984.3	-	12	1229	c.1072C>G	c.(1072-1074)Cat>Gat	p.H358D	POMGNT1_ENST00000535522.1_Missense_Mutation_p.H336D|POMGNT1_ENST00000371992.1_Missense_Mutation_p.H358D|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H358D|POMGNT1_ENST00000396420.3_3'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	358					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)	p.H358D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ATGGGAGTATGCTGGATGCCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											119	108	112					1																	46659015		2203	4300	6503	46431602	SO:0001583	missense	55624				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1072C>G	1.37:g.46659015G>C	ENSP00000361052:p.His358Asp		46431602	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500971	0.85176	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.999;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.921;0.984;0.993;0.984;0.99	D	0.95717	0.8763	10	0.62326	D	0.03	-21.0442	19.3554	0.94410	0.0:0.0:1.0:0.0	.	336;336;358;215;358	F5H827;B7Z7Q4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;PMGT1_HUMAN	D	358;358;336;358	ENSP00000361052:H358D;ENSP00000361060:H358D;ENSP00000443767:H336D;ENSP00000361054:H358D	ENSP00000361052:H358D	H	-	1	0	POMGNT1	46431602	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.892000	0.92491	2.813000	0.96785	0.561000	0.74099	CAT		0.577	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		C	46659015	G	C	46659015	3	2	144	1	0	0	0	0	1	0	0	0	12243	1319	46	3	954	3	POMGNT1	1	46659015	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	1317692	46659015	202591606	5	7946											
USP24	23358	broad.mit.edu	37	1	55591073	55591073	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:55591073A>T	ENST00000294383.6	-	34	3879	c.3880T>A	c.(3880-3882)Tcc>Acc	p.S1294T	USP24_ENST00000407756.1_Missense_Mutation_p.S1134T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1294					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.S1211T(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGTCGGTAGGATGACTTTTCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											169	159	162					1																	55591073		1927	4140	6067	55363661	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3880T>A	1.37:g.55591073A>T	ENSP00000294383:p.Ser1294Thr		55363661	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881371	0.51801	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02498	4.29;4.27	5.13	5.13	0.70059	.	0.052612	0.85682	D	0.000000	T	0.02970	0.0088	N	0.22421	0.69	0.52099	D	0.999945	B	0.10296	0.003	B	0.06405	0.002	T	0.54289	-0.8316	10	0.33940	T	0.23	.	14.9324	0.70926	1.0:0.0:0.0:0.0	.	1134	B7WPF4	.	T	1294;1134	ENSP00000294383:S1294T;ENSP00000385700:S1134T	ENSP00000294383:S1294T	S	-	1	0	USP24	55363661	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.923000	0.92808	1.938000	0.56188	0.460000	0.39030	TCC		0.463	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			T	55591073	A	T	55591073	3	4	144	1	0	0	0	0	1	0	0	0	17055	333	12	5	4122	5	USP24	1	55591073	Missense_Mutation	SNP	A	TCGA-13-1501-01A-01W-0545-08	8932058	55591073	193659548	6	7947											
SF3B4	10262	broad.mit.edu	37	1	149897731	149897731	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:149897731G>A	ENST00000271628.8	-	4	1494	c.910C>T	c.(910-912)Cca>Tca	p.P304S	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	304					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P304S(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CACCTACCTGGATGGGGCATC	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											50	42	44					1																	149897731		2203	4300	6503	148164355	SO:0001583	missense	10262			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"RNA binding motif (RRM) containing"	10771	protein-coding gene	gene with protein product		605593	"splicing factor 3b, subunit 4, 49kD"			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.910C>T	1.37:g.149897731G>A	ENSP00000271628:p.Pro304Ser		148164355	Q5SZ63	Missense_Mutation	SNP	ENST00000271628.8	37	CCDS941.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638882	0.47153	.	.	ENSG00000143368	ENST00000271628	T	0.26223	1.75	4.58	4.58	0.56647	.	0.104187	0.64402	D	0.000003	T	0.33556	0.0867	L	0.49350	1.555	0.80722	D	1	D;P	0.89917	1.0;0.909	D;P	0.80764	0.994;0.641	T	0.01545	-1.1328	10	0.34782	T	0.22	.	14.565	0.68168	0.0:0.0:1.0:0.0	.	304;304	Q53FG6;Q15427	.;SF3B4_HUMAN	S	304	ENSP00000271628:P304S	ENSP00000271628:P304S	P	-	1	0	SF3B4	148164355	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.075000	0.76798	2.511000	0.84671	0.462000	0.41574	CCA		0.572	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		A	149897731	G	A	149897731	3	1	144	1	0	0	0	0	1	0	0	0	14156	1174	41	2	376	2	SF3B4	1	149897731	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	94306658	149897731	99352890	7	7948											
ARHGEF11	9826	broad.mit.edu	37	1	156911192	156911192	+	Silent	SNP	A	A	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:156911192A>T	ENST00000361409.2	-	34	4108	c.3366T>A	c.(3364-3366)ggT>ggA	p.G1122G	ARHGEF11_ENST00000315174.8_Silent_p.G538G|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Silent_p.G1162G	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1122					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1162G(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTCAGGTTCACCATGGAACA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	1											105	95	98					1																	156911192		2203	4300	6503	155177816	SO:0001819	synonymous_variant	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3366T>A	1.37:g.156911192A>T			155177816	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																				0.532	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		T	156911192	A	T	156911192	2	4	144	1	0	0	0	0	0	0	0	1	896	146	6	5		5	ARHGEF11	1	156911192	Silent	SNP	A	TCGA-13-1501-01A-01W-0545-08	7013461	156911192	92339429	8	7949											
FAM20B	9917	broad.mit.edu	37	1	179013091	179013091	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:179013091G>A	ENST00000263733.4	+	2	445	c.109G>A	c.(109-111)Gac>Aac	p.D37N		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	37						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.D37N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CAACCGGGAGGACCAGAGGGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											80	76	77					1																	179013091		2203	4300	6503	177279714	SO:0001583	missense	9917			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.109G>A	1.37:g.179013091G>A	ENSP00000263733:p.Asp37Asn		177279714	Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653128	0.96724	.	.	ENSG00000116199	ENST00000440702;ENST00000263733	D	0.87966	-2.32	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.92071	0.7487	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.89632	0.3856	10	0.33141	T	0.24	-47.0843	20.3167	0.98654	0.0:0.0:1.0:0.0	.	37	O75063	XYLK_HUMAN	N	37	ENSP00000263733:D37N	ENSP00000263733:D37N	D	+	1	0	FAM20B	177279714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.809000	0.96659	0.557000	0.71058	GAC		0.517	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		A	179013091	G	A	179013091	3	1	144	1	0	0	0	0	1	0	0	0	5538	1174	41	2	111	2	FAM20B	1	179013091	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	22101899	179013091	70237530	9	7950											
KLHDC8A	55220	broad.mit.edu	37	1	205312382	205312382	+	Silent	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:205312382G>C	ENST00000367156.3	-	5	1167	c.351C>G	c.(349-351)gcC>gcG	p.A117A	KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank|KLHDC8A_ENST00000539253.1_Silent_p.A117A|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.A117A	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	117								p.A117A(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAATGCCCATGGCGGCCTCAC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	1											81	79	80					1																	205312382		2202	4299	6501	203579005	SO:0001819	synonymous_variant	55220				CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.351C>G	1.37:g.205312382G>C			203579005	B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	37	CCDS30985.1																																																																																				0.607	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		C	205312382	G	C	205312382	2	2	144	1	0	0	0	0	0	0	0	1	8362	1335	47	3		3	KLHDC8A	1	205312382	Silent	SNP	G	TCGA-13-1501-01A-01W-0545-08	26299291	205312382	43938239	10	7951											
USH2A	7399	broad.mit.edu	37	1	216380668	216380668	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr1:216380668C>T	ENST00000307340.3	-	16	3649	c.3263G>A	c.(3262-3264)aGt>aAt	p.S1088N	USH2A_ENST00000366942.3_Missense_Mutation_p.S1088N|USH2A_ENST00000366943.2_Missense_Mutation_p.S1088N|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1088	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S1088N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGAGTAAACTGTAAGTAAG	0.418										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											117	115	116					1																	216380668		2203	4300	6503	214447291	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3263G>A	1.37:g.216380668C>T	ENSP00000305941:p.Ser1088Asn		214447291	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178295	0.21787	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.84730	-1.89;0.6;0.39	5.86	3.96	0.45880	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.953389	0.08608	N	0.920419	T	0.75525	0.3861	L	0.44542	1.39	0.09310	N	0.99999	B;B	0.31625	0.332;0.094	B;B	0.29598	0.104;0.037	T	0.60865	-0.7178	10	0.19147	T	0.46	.	1.4314	0.02334	0.1483:0.4458:0.1538:0.2521	.	1088;1088	O75445-2;O75445	.;USH2A_HUMAN	N	1088	ENSP00000305941:S1088N;ENSP00000355910:S1088N;ENSP00000355909:S1088N	ENSP00000305941:S1088N	S	-	2	0	USH2A	214447291	0.007000	0.16637	0.984000	0.44739	0.998000	0.95712	0.812000	0.27211	0.780000	0.33566	0.655000	0.94253	AGT		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216380668	C	T	216380668	3	4	144	1	0	0	0	0	1	0	0	0	17036	565	20	2	12587	2	USH2A	1	216380668	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	11068286	216380668	32869953	11	7952											
HEATR5B	54497	broad.mit.edu	37	2	37255209	37255209	+	Nonsense_Mutation	SNP	G	G	T	rs145210064		TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr2:37255209G>T	ENST00000233099.5	-	24	3805	c.3710C>A	c.(3709-3711)tCa>tAa	p.S1237*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.S1237*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1237						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.S1237*(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAGGGCTTTGATTTATCTTC	0.443																																																1	Substitution - Nonsense(1)	ovary(1)	2											104	109	107					2																	37255209		2203	4300	6503	37108713	SO:0001587	stop_gained	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3710C>A	2.37:g.37255209G>T	ENSP00000233099:p.Ser1237*		37108713	B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	42	9.701090	0.99242	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	.	.	.	4.6	4.6	0.57074	.	0.352028	0.30575	N	0.009322	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4785	17.7732	0.88499	0.0:0.0:1.0:0.0	.	.	.	.	X	1237	.	ENSP00000233099:S1237X	S	-	2	0	HEATR5B	37108713	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.513000	0.73742	2.267000	0.75376	0.313000	0.20887	TCA		0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		T	37255209	G	T	37255209	4	4	144	1	0	0	0	0	0	1	0	0	7032	1294	45	3	2557	3	HEATR5B	2	37255209	Nonsense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08		37255209	205944164	12	7953											
FAM161A	84140	broad.mit.edu	37	2	62067260	62067260	+	Silent	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr2:62067260G>C	ENST00000405894.3	-	3	980	c.879C>G	c.(877-879)ctC>ctG	p.L293L	FAM161A_ENST00000404929.1_Silent_p.L293L	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	293					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.L184L(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTAAAGGGGGAGAAAGACAG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	2											167	153	157					2																	62067260		1854	4091	5945	61920764	SO:0001819	synonymous_variant	84140				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.879C>G	2.37:g.62067260G>C			61920764	B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	CCDS42687.2																																																																																				0.403	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		C	62067260	G	C	62067260	2	2	144	1	0	0	0	0	0	0	0	1	5472	1161	41	3		3	FAM161A	2	62067260	Silent	SNP	G	TCGA-13-1501-01A-01W-0545-08	24812051	62067260	181132113	13	7954											
FER1L5	90342	broad.mit.edu	37	2	97363280	97363280	+	RNA	SNP	C	C	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr2:97363280C>T	ENST00000457909.1	+	0	3604							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y1394Y(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GCTACCTCTACAGAAAGTTCT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	2											47	49	48					2																	97363280		1943	4120	6063	96727007			90342			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97363280C>T			96727007	Q17RH2|Q6ZU24	Silent	SNP	ENST00000457909.1	37																																																																																					0.562	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		T	97363280	C	T	97363280	1	4	144	0	1	0	0	0	0	0	0	0	5814	489	17	2		2	FER1L5	2	97363280	RNA	SNP	C	TCGA-13-1501-01A-01W-0545-08	35296020	97363280	145836093	14	7955											
CCNT2	905	broad.mit.edu	37	2	135711863	135711863	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr2:135711863G>A	ENST00000264157.5	+	9	1868	c.1838G>A	c.(1837-1839)aGc>aAc	p.S613N	CCNT2_ENST00000295238.6_Missense_Mutation_p.S613N|CCNT2_ENST00000537343.1_Missense_Mutation_p.S438N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	613	Poly-Ser.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S613N(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ATTTCCTCTAGCTCCAGCTCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											138	130	133					2																	135711863		2203	4300	6503	135428333	SO:0001583	missense	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1838G>A	2.37:g.135711863G>A	ENSP00000264157:p.Ser613Asn		135428333	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254194	0.39896	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.45276	0.9;1.43	5.58	4.69	0.59074	.	0.335566	0.40469	N	0.001083	T	0.58538	0.2129	L	0.52573	1.65	0.35495	D	0.799304	B;D;D	0.67145	0.403;0.993;0.996	B;D;P	0.70227	0.157;0.968;0.889	T	0.68119	-0.5493	10	0.45353	T	0.12	.	16.7395	0.85455	0.0:0.1289:0.8711:0.0	.	438;613;613	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	N	438;613;613	ENSP00000295238:S613N;ENSP00000264157:S613N	ENSP00000264157:S613N	S	+	2	0	CCNT2	135428333	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.795000	0.62489	1.338000	0.45544	0.655000	0.94253	AGC		0.502	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		A	135711863	G	A	135711863	3	1	144	1	0	0	0	0	1	0	0	0	2935	971	34	2	1872	2	CCNT2	2	135711863	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	38348583	135711863	107487510	15	7956											
DPP4	1803	broad.mit.edu	37	2	162881421	162881421	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr2:162881421C>T	ENST00000360534.3	-	11	1476	c.916G>A	c.(916-918)Gca>Aca	p.A306T		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	306					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A306T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TCTTGTGTTGCCCATGTCACA	0.423																																																1	Substitution - Missense(1)	ovary(1)	2											126	115	119					2																	162881421		2203	4300	6503	162589667	SO:0001583	missense	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.916G>A	2.37:g.162881421C>T	ENSP00000353731:p.Ala306Thr		162589667	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930774	0.73327	.	.	ENSG00000197635	ENST00000360534	D	0.95690	-3.78	5.47	5.47	0.80525	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.525914	0.20977	N	0.082283	D	0.94437	0.8210	L	0.59436	1.845	0.42507	D	0.992957	B	0.30793	0.295	B	0.32724	0.151	D	0.93672	0.6991	10	0.62326	D	0.03	-19.6943	17.5034	0.87738	0.0:1.0:0.0:0.0	.	306	P27487	DPP4_HUMAN	T	306	ENSP00000353731:A306T	ENSP00000353731:A306T	A	-	1	0	DPP4	162589667	0.995000	0.38212	0.984000	0.44739	0.915000	0.54546	3.594000	0.54008	2.563000	0.86464	0.655000	0.94253	GCA		0.423	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			T	162881421	C	T	162881421	3	4	144	1	0	0	0	0	1	0	0	0	4729	739	26	2	1448	2	DPP4	2	162881421	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	27169558	162881421	80317952	16	7957											
ABCA12	26154	broad.mit.edu	37	2	215843638	215843638	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr2:215843638A>G	ENST00000272895.7	-	32	5086	c.4867T>C	c.(4867-4869)Ttc>Ctc	p.F1623L	ABCA12_ENST00000389661.4_Missense_Mutation_p.F1305L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1623					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.F1623L(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGGTGCTGAATGGAGGAAGT	0.527																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	ovary(1)	2											174	151	159					2																	215843638		2203	4300	6503	215551883	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4867T>C	2.37:g.215843638A>G	ENSP00000272895:p.Phe1623Leu		215551883	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.627594	0.46944	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.79749	-1.3;-1.3	5.36	5.36	0.76844	.	0.157646	0.45606	D	0.000359	D	0.82737	0.5102	L	0.42632	1.34	0.80722	D	1	D;D	0.64830	0.994;0.968	P;P	0.61397	0.888;0.852	T	0.78368	-0.2231	10	0.10377	T	0.69	.	15.6478	0.77068	1.0:0.0:0.0:0.0	.	1623;1305	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	1623;1305	ENSP00000272895:F1623L;ENSP00000374312:F1305L	ENSP00000272895:F1623L	F	-	1	0	ABCA12	215551883	1.000000	0.71417	0.853000	0.33588	0.333000	0.28666	7.254000	0.78329	2.156000	0.67533	0.533000	0.62120	TTC		0.527	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		G	215843638	A	G	215843638	3	3	144	1	0	0	0	0	1	0	0	0	30	101	4	4	3008	4	ABCA12	2	215843638	Missense_Mutation	SNP	A	TCGA-13-1501-01A-01W-0545-08	52962217	215843638	27355735	17	7958											
MARCH4	57574	broad.mit.edu	37	2	217142538	217142538	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr2:217142538G>C	ENST00000273067.4	-	3	2488	c.722C>G	c.(721-723)gCc>gGc	p.A241G		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	241						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A241G(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCCCAGGATGGCGGCTGCAAC	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											81	73	76					2																	217142538		2203	4300	6503	216850783	SO:0001583	missense	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.722C>G	2.37:g.217142538G>C	ENSP00000273067:p.Ala241Gly		216850783	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.521866	0.85600	.	.	ENSG00000144583	ENST00000273067	T	0.61392	0.11	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	L	0.57536	1.79	0.58432	D	0.999998	D	0.63046	0.992	P	0.60541	0.876	T	0.68492	-0.5394	10	0.37606	T	0.19	2.3155	17.829	0.88674	0.0:0.0:1.0:0.0	.	241	Q9P2E8	MARH4_HUMAN	G	241	ENSP00000273067:A241G	ENSP00000273067:A241G	A	-	2	0	MARCH4	216850783	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.793000	0.75130	2.465000	0.83290	0.655000	0.94253	GCC		0.567	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		C	217142538	G	C	217142538	3	2	144	1	0	0	0	0	1	0	0	0	9303	1203	42	3	518	3	MARCH4	2	217142538	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	1298900	217142538	26056835	18	7959											
FAM134A	79137	broad.mit.edu	37	2	220044835	220044835	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr2:220044835G>C	ENST00000430297.2	+	4	559	c.423G>C	c.(421-423)gaG>gaC	p.E141D	CNPPD1_ENST00000409789.1_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	141						integral component of membrane (GO:0016021)		p.E141D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCCAGTGAGGGTGCGGGGT	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											56	60	58					2																	220044835		2203	4300	6503	219753079	SO:0001583	missense	79137			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.423G>C	2.37:g.220044835G>C	ENSP00000395249:p.Glu141Asp		219753079	Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690015	0.29962	.	.	ENSG00000144567	ENST00000430297	T	0.44083	0.93	4.53	4.53	0.55603	.	0.583983	0.18785	N	0.131234	T	0.42539	0.1207	M	0.77820	2.39	0.43617	D	0.995999	B	0.29232	0.238	B	0.28011	0.085	T	0.27938	-1.0059	10	0.18710	T	0.47	-13.9884	11.7361	0.51765	0.0:0.0:0.8244:0.1756	.	141	Q8NC44	F134A_HUMAN	D	141	ENSP00000395249:E141D	ENSP00000395249:E141D	E	+	3	2	FAM134A	219753079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.691000	0.54720	2.342000	0.79632	0.561000	0.74099	GAG		0.557	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		C	220044835	G	C	220044835	3	2	144	1	0	0	0	0	1	0	0	0	5445	991	35	3	437	3	FAM134A	2	220044835	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	2902297	220044835	23154538	19	7960											
GCNT4	51301	broad.mit.edu	37	5	74324666	74324666	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr5:74324666C>A	ENST00000322348.4	-	1	2058	c.1197G>T	c.(1195-1197)agG>agT	p.R399S		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	399					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.R399S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TGATAAGCCACCTTAATTCTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											100	99	99					5																	74324666		2203	4300	6503	74360422	SO:0001583	missense	51301			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.1197G>T	5.37:g.74324666C>A	ENSP00000317027:p.Arg399Ser		74360422		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	15.13	2.742524	0.49151	.	.	ENSG00000176928	ENST00000322348	T	0.11277	2.79	6.06	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	L	0.43923	1.385	0.40810	D	0.983417	P	0.44776	0.843	P	0.53549	0.729	T	0.08086	-1.0739	10	0.10902	T	0.67	-13.7788	11.4579	0.50193	0.0:0.7181:0.0:0.2819	.	399	Q9P109	GCNT4_HUMAN	S	399	ENSP00000317027:R399S	ENSP00000317027:R399S	R	-	3	2	GCNT4	74360422	0.947000	0.32204	1.000000	0.80357	0.997000	0.91878	0.002000	0.13061	0.898000	0.36418	0.650000	0.86243	AGG		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		A	74324666	C	A	74324666	3	1	144	1	0	0	0	0	1	0	0	0	6303	506	18	3	168	3	GCNT4	5	74324666	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08		74324666	106590594	20	7961											
FBXO38	81545	broad.mit.edu	37	5	147795556	147795556	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr5:147795556T>A	ENST00000340253.5	+	11	1498	c.1330T>A	c.(1330-1332)Tct>Act	p.S444T	FBXO38_ENST00000394370.3_Missense_Mutation_p.S444T|FBXO38_ENST00000513826.1_Missense_Mutation_p.S444T|FBXO38_ENST00000296701.6_Missense_Mutation_p.S444T			Q6PIJ6	FBX38_HUMAN	F-box protein 38	444					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S444T(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCTGGACTCTTTTGGCCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											133	133	133					5																	147795556		2203	4300	6503	147775749	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1330T>A	5.37:g.147795556T>A	ENSP00000342023:p.Ser444Thr		147775749	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	T	25.5	4.647889	0.87958	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.17691	2.26;5.46;2.26;5.46	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	L	0.34521	1.04	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;D	0.78314	0.991;0.991;0.987	T	0.03555	-1.1025	10	0.87932	D	0	-12.1686	14.9044	0.70706	0.0:0.0:0.0:1.0	.	444;444;444	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	T	444	ENSP00000342023:S444T;ENSP00000296701:S444T;ENSP00000377895:S444T;ENSP00000426410:S444T	ENSP00000296701:S444T	S	+	1	0	FBXO38	147775749	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.266000	0.75297	0.528000	0.53228	TCT		0.403	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		A	147795556	T	A	147795556	3	1	144	1	0	0	0	0	1	0	0	0	5746	1551	54	5	1368	5	FBXO38	5	147795556	Missense_Mutation	SNP	T	TCGA-13-1501-01A-01W-0545-08	73470890	147795556	33119704	21	7962											
RUFY1	80230	broad.mit.edu	37	5	179012844	179012844	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr5:179012844C>G	ENST00000319449.4	+	8	1016	c.1004C>G	c.(1003-1005)aCt>aGt	p.T335S	RUFY1_ENST00000377001.2_Missense_Mutation_p.T335S|RUFY1_ENST00000437570.2_Missense_Mutation_p.T227S|RUFY1_ENST00000393438.2_Missense_Mutation_p.T227S	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	335					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.T227S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGAAAAGACTAACTCAAAG	0.348										HNSCC(44;0.11)																																						1	Substitution - Missense(1)	ovary(1)	5											99	106	103					5																	179012844		2203	4300	6503	178945450	SO:0001583	missense	80230			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1004C>G	5.37:g.179012844C>G	ENSP00000325594:p.Thr335Ser		178945450	Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	CCDS4445.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.134|8.134|8.134	0.783635|0.783635|0.783635	0.16189|0.16189|0.16189	.|.|.	.|.|.	ENSG00000176783|ENSG00000176783|ENSG00000176783	ENST00000502434|ENST00000508609|ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438	.|.|T;T;T;T	.|.|0.76968	.|.|-1.06;1.79;-1.06;-1.06	5.77|5.77|5.77	4.91|4.91|4.91	0.64330|0.64330|0.64330	.|.|.	.|.|0.050151	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.66771|0.66771|0.66771	0.2823|0.2823|0.2823	L|L|L	0.39514|0.39514|0.39514	1.22|1.22|1.22	0.44373|0.44373|0.44373	D|D|D	0.997274|0.997274|0.997274	.|.|B	.|.|0.15719	.|.|0.014	.|.|B	.|.|0.18263	.|.|0.021	T|T|T	0.60596|0.60596|0.60596	-0.7232|-0.7232|-0.7232	5|5|10	.|.|0.02654	.|.|T	.|.|1	-4.724|-4.724|-4.724	14.657|14.657|14.657	0.68841|0.68841|0.68841	0.0:0.9306:0.0:0.0693|0.0:0.9306:0.0:0.0693|0.0:0.9306:0.0:0.0693	.|.|.	.|.|335	.|.|Q96T51	.|.|RUFY1_HUMAN	E|V|S	46|124|335;335;227;227	.|.|ENSP00000325594:T335S;ENSP00000366200:T335S;ENSP00000390025:T227S;ENSP00000377087:T227S	.|.|ENSP00000325594:T335S	D|L|T	+|+|+	3|1|2	2|2|0	RUFY1|RUFY1|RUFY1	178945450|178945450|178945450	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.890000|0.890000|0.890000	0.34922|0.34922|0.34922	0.897000|0.897000|0.897000	0.52465|0.52465|0.52465	5.539000|5.539000|5.539000	0.67199|0.67199|0.67199	1.453000|1.453000|1.453000	0.47775|0.47775|0.47775	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAC|CTA|ACT		0.348	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		G	179012844	C	G	179012844	3	3	144	1	0	0	0	0	1	0	0	0	13741	565	20	3	1034	3	RUFY1	5	179012844	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	31217288	179012844	1902416	22	7963											
HIST1H1A	3024	broad.mit.edu	37	6	26017677	26017677	+	Missense_Mutation	SNP	G	G	C	rs375118598		TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr6:26017677G>C	ENST00000244573.3	-	1	363	c.284C>G	c.(283-285)aCg>aGg	p.T95R		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	95	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.T95R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CTGCACCAACGTTCCCTTGCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	6											78	81	80					6																	26017677		2203	4300	6503	26125656	SO:0001583	missense	3024			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.284C>G	6.37:g.26017677G>C	ENSP00000244573:p.Thr95Arg		26125656	Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	17.83	3.484465	0.63962	.	.	ENSG00000124610	ENST00000244573	T	0.09817	2.94	4.2	4.2	0.49525	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.159960	0.53938	D	0.000041	T	0.24547	0.0595	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02868	-1.1100	10	0.72032	D	0.01	-14.8275	16.4244	0.83809	0.0:0.0:1.0:0.0	.	95	Q02539	H11_HUMAN	R	95	ENSP00000244573:T95R	ENSP00000244573:T95R	T	-	2	0	HIST1H1A	26125656	1.000000	0.71417	0.982000	0.44146	0.147000	0.21601	5.607000	0.67648	2.260000	0.74910	0.609000	0.83330	ACG		0.572	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		C	26017677	G	C	26017677	3	2	144	1	0	0	0	0	1	0	0	0	7122	1145	40	3	367	3	HIST1H1A	6	26017677	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08		26017677	145097390	23	7964											
ZNF184	7738	broad.mit.edu	37	6	27420013	27420013	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr6:27420013C>G	ENST00000211936.6	-	6	1609	c.1325G>C	c.(1324-1326)gGg>gCg	p.G442A	ZNF184_ENST00000377419.1_Missense_Mutation_p.G442A	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G442A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGGTTTCTCCCCAGTATGAGT	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											85	85	85					6																	27420013		2203	4300	6503	27527992	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1325G>C	6.37:g.27420013C>G	ENSP00000211936:p.Gly442Ala		27527992	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583456	0.65992	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.26373	1.74;1.74	5.27	5.27	0.74061	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	T	0.29945	0.0749	L	0.56124	1.755	0.42806	D	0.993947	D	0.56287	0.975	P	0.53102	0.718	T	0.02533	-1.1145	10	0.87932	D	0	.	16.4094	0.83703	0.0:1.0:0.0:0.0	.	442	Q99676	ZN184_HUMAN	A	442	ENSP00000211936:G442A;ENSP00000366636:G442A	ENSP00000211936:G442A	G	-	2	0	ZNF184	27527992	0.226000	0.23696	0.989000	0.46669	0.999000	0.98932	2.419000	0.44671	2.744000	0.94065	0.655000	0.94253	GGG		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		G	27420013	C	G	27420013	3	3	144	1	0	0	0	0	1	0	0	0	17751	623	22	3	934	3	ZNF184	6	27420013	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	1402336	27420013	143695054	24	7965											
GNL1	2794	broad.mit.edu	37	6	30521236	30521236	+	Silent	SNP	A	A	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr6:30521236A>G	ENST00000376621.3	-	6	1669	c.699T>C	c.(697-699)gcT>gcC	p.A233A		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	233	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.			PA -> RR (in Ref. 1; AAA66492). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.A233A(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CAACCACAAGAGCTGGCGGGG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	6											135	141	139					6																	30521236		1510	2709	4219	30629215	SO:0001819	synonymous_variant	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.699T>C	6.37:g.30521236A>G			30629215	B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	CCDS4680.1																																																																																				0.547	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			G	30521236	A	G	30521236	2	3	144	1	0	0	0	0	0	0	0	1	6535	291	11	4		4	GNL1	6	30521236	Silent	SNP	A	TCGA-13-1501-01A-01W-0545-08	3101223	30521236	140593831	25	7966											
DAGLB	221955	broad.mit.edu	37	7	6476149	6476149	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr7:6476149G>A	ENST00000297056.6	-	3	432	c.263C>T	c.(262-264)cCt>cTt	p.P88L	DAGLB_ENST00000436575.1_Missense_Mutation_p.P47L|DAGLB_ENST00000425398.2_Missense_Mutation_p.P88L|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000479922.2_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	88					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.P88L(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)		CCGCGGTCCAGGGTTACAAAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	7											73	80	78					7																	6476149		2203	4300	6503	6442674	SO:0001583	missense	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.263C>T	7.37:g.6476149G>A	ENSP00000297056:p.Pro88Leu		6442674	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246543	0.95305	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000471132;ENST00000432248	T;T;T	0.43294	0.95;0.96;0.96	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.88	T	0.59129	-0.7512	10	0.24483	T	0.36	-5.0408	20.5827	0.99408	0.0:0.0:1.0:0.0	.	88;88	B4DQU0;Q8NCG7	.;DGLB_HUMAN	L	88;88;47;88;88	ENSP00000297056:P88L;ENSP00000391171:P88L;ENSP00000404785:P47L	ENSP00000297056:P88L	P	-	2	0	DAGLB	6442674	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.109000	0.77062	2.941000	0.99782	0.655000	0.94253	CCT		0.493	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		A	6476149	G	A	6476149	3	1	144	1	0	0	0	0	1	0	0	0	4227	1000	35	2	1807	2	DAGLB	7	6476149	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08		6476149	152662514	26	7967											
EGFR	1956	broad.mit.edu	37	7	55273168	55273168	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr7:55273168A>G	ENST00000275493.2	+	28	3668	c.3491A>G	c.(3490-3492)cAa>cGa	p.Q1164R	EGFR_ENST00000454757.2_Missense_Mutation_p.Q1111R|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1164					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.Q1164R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGCAGCCACCAAATTAGCCTG	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	1	Substitution - Missense(1)	ovary(1)	7											88	72	78					7																	55273168		2203	4300	6503	55240662	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3491A>G	7.37:g.55273168A>G	ENSP00000275493:p.Gln1164Arg		55240662	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	0.840	-0.742118	0.03088	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.72835	-0.68;-0.69	5.34	4.12	0.48240	.	0.058150	0.64402	D	0.000001	T	0.56906	0.2017	L	0.43923	1.385	0.43874	D	0.996481	B	0.21688	0.059	B	0.21917	0.037	T	0.50642	-0.8804	10	0.02654	T	1	.	11.9149	0.52759	0.8557:0.1443:0.0:0.0	.	1164	P00533	EGFR_HUMAN	R	1034;1164;1111	ENSP00000275493:Q1164R;ENSP00000395243:Q1111R	ENSP00000275493:Q1164R	Q	+	2	0	EGFR	55240662	1.000000	0.71417	0.907000	0.35723	0.242000	0.25591	6.916000	0.75776	2.152000	0.67230	0.456000	0.33151	CAA		0.542	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55273168	A	G	55273168	3	3	144	1	0	0	0	0	1	0	0	0	4967	130	5	4	3865	4	EGFR	7	55273168	Missense_Mutation	SNP	A	TCGA-13-1501-01A-01W-0545-08	48797019	55273168	103865495	27	7968											
CPA4	51200	broad.mit.edu	37	7	129950719	129950719	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr7:129950719C>A	ENST00000222482.4	+	9	914	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K	CPA4_ENST00000445470.2_Missense_Mutation_p.Q263K|CPA4_ENST00000493259.1_Missense_Mutation_p.Q192K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	296					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q296K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGATTTCATCCAAAAACATGG	0.517																																																1	Substitution - Missense(1)	ovary(1)	7											139	133	135					7																	129950719		2203	4300	6503	129737955	SO:0001583	missense	51200			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.886C>A	7.37:g.129950719C>A	ENSP00000222482:p.Gln296Lys		129737955	B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	C	5.172	0.217294	0.09810	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.11385	2.78;2.78;2.78	6.07	1.8	0.24995	Peptidase M14, carboxypeptidase A (2);	0.316366	0.32218	N	0.006414	T	0.03739	0.0106	N	0.01789	-0.72	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41179	-0.9523	10	0.08381	T	0.77	.	14.5637	0.68159	0.5897:0.4103:0.0:0.0	.	263;296	B7Z576;Q9UI42	.;CBPA4_HUMAN	K	263;296;101;192	ENSP00000412947:Q263K;ENSP00000222482:Q296K;ENSP00000419660:Q192K	ENSP00000222482:Q296K	Q	+	1	0	CPA4	129737955	0.000000	0.05858	0.077000	0.20336	0.939000	0.58152	-0.229000	0.09098	0.852000	0.35287	0.655000	0.94253	CAA		0.517	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		A	129950719	C	A	129950719	3	1	144	1	0	0	0	0	1	0	0	0	3792	595	21	3	920	3	CPA4	7	129950719	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	74677551	129950719	29187944	28	7969											
AKR1B15	441282	broad.mit.edu	37	7	134260193	134260193	+	Missense_Mutation	SNP	G	G	A	rs375750709		TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr7:134260193G>A	ENST00000457545.2	+	7	795	c.535G>A	c.(535-537)Gag>Aag	p.E179K	AKR1B15_ENST00000423958.1_Missense_Mutation_p.E151K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	179							oxidoreductase activity (GO:0016491)	p.E197K(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCTGGTGGACGAGGGGCTGGT	0.517																																																1	Substitution - Missense(1)	ovary(1)	7						G	LYS/GLU	1,4405		0,1,2202	62	65	64		535	0.6	0.9	7		64	0,8600		0,0,4300	no	missense	AKR1B15	NM_001080538.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	179/345	134260193	1,13005	2203	4300	6503	133910733	SO:0001583	missense	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.535G>A	7.37:g.134260193G>A	ENSP00000389289:p.Glu179Lys		133910733	C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	10.71	1.426927	0.25726	2.27E-4	0.0	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.26660	1.72;1.72	3.63	0.561	0.17285	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.12944	0.0314	N	0.17872	0.535	0.24424	N	0.994602	B;B	0.29481	0.003;0.245	B;B	0.23716	0.012;0.048	T	0.27434	-1.0074	9	0.26408	T	0.33	.	5.7519	0.18152	0.2009:0.1657:0.6334:0.0	.	151;179	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	K	179;151	ENSP00000389289:E179K;ENSP00000397009:E151K	ENSP00000397009:E151K	E	+	1	0	AKR1B15	133910733	0.001000	0.12720	0.899000	0.35326	0.707000	0.40811	1.066000	0.30604	0.189000	0.20188	-0.324000	0.08512	GAG		0.517	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			A	134260193	G	A	134260193	3	1	144	1	0	0	0	0	1	0	0	0	468	1059	37	1	553	1	AKR1B15	7	134260193	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	4309474	134260193	24878470	29	7970											
ZNF746	155061	broad.mit.edu	37	7	149191528	149191528	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr7:149191528G>A	ENST00000340622.3	-	2	371	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	ZNF746_ENST00000458143.2_Missense_Mutation_p.R31C|ZNF746_ENST00000461958.2_Missense_Mutation_p.R31C			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	31					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.R31C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAAAGCAGGCGAGCAGCCTGC	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											90	92	91					7																	149191528		2203	4300	6503	148822461	SO:0001583	missense	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.91C>T	7.37:g.149191528G>A	ENSP00000345140:p.Arg31Cys		148822461	A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	.	19.64	3.865333	0.71949	.	.	ENSG00000181220	ENST00000340622;ENST00000458143;ENST00000461958	T;T	0.26373	1.74;1.74	4.64	4.64	0.57946	.	0.000000	0.43747	D	0.000521	T	0.34687	0.0906	N	0.19112	0.55	0.45490	D	0.998458	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.23797	-1.0178	10	0.87932	D	0	-24.5085	13.0146	0.58749	0.0:0.0:1.0:0.0	.	31;31	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	C	31;31;18	ENSP00000345140:R31C;ENSP00000395007:R31C	ENSP00000345140:R31C	R	-	1	0	ZNF746	148822461	0.981000	0.34729	1.000000	0.80357	0.903000	0.53119	4.167000	0.58209	2.119000	0.64992	0.514000	0.50259	CGC		0.547	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		A	149191528	G	A	149191528	3	1	144	1	0	0	0	0	1	0	0	0	18129	1058	37	1	1870	1	ZNF746	7	149191528	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	14931335	149191528	9947135	30	7971											
HRSP12	10247	broad.mit.edu	37	8	99116773	99116773	+	Splice_Site	SNP	C	C	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr8:99116773C>G	ENST00000254878.3	-	5	440		c.e5-1			NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12						regulation of translational termination (GO:0006449)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deaminase activity (GO:0019239)|endonuclease activity (GO:0004519)|poly(A) RNA binding (GO:0044822)	p.?(1)		large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CTCTTGAAATCTGAATTTAAA	0.269																																																1	Unknown(1)	ovary(1)	8											73	78	76					8																	99116773		2203	4300	6503	99185949	SO:0001630	splice_region_variant	10247			BC008418	CCDS6276.1	8q22	2014-05-09			ENSG00000132541	ENSG00000132541			16897	protein-coding gene	gene with protein product	"translational inhibitor p14.5"	602487				8973653, 9405234, 20817725	Standard	NM_005836		Approved	UK114, P14.5, PSP	uc003yii.1	P52758	OTTHUMG00000164670	ENST00000254878.3:c.296-1G>C	8.37:g.99116773C>G			99185949	Q6FHU9|Q6IBG0	Splice_Site	SNP	ENST00000254878.3	37	CCDS6276.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273897	0.59649	.	.	ENSG00000132541	ENST00000254878;ENST00000520507;ENST00000521560;ENST00000520989	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4742	0.67535	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HRSP12	99185949	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.066000	0.71185	2.135000	0.66039	0.467000	0.42956	.		0.269	HRSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379687.1	NM_005836	Intron	G	99116773	C	G	99116773	5	3	144	1	0	0	0	0	0	0	1	0	7360	927	32	3	126	3	HRSP12	8	99116773	Splice_Site	SNP	C	TCGA-13-1501-01A-01W-0545-08		99116773	47247249	31	7972											
POP1	10940	broad.mit.edu	37	8	99169860	99169860	+	Silent	SNP	G	G	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr8:99169860G>A	ENST00000401707.2	+	16	2517	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	POP1_ENST00000349693.3_Silent_p.L812L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	812					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.L812L(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAAAATTACTGAAGCAACTGT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	8											46	50	48					8																	99169860		2203	4297	6500	99239036	SO:0001819	synonymous_variant	10940			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2436G>A	8.37:g.99169860G>A			99239036	A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	CCDS6277.1																																																																																				0.483	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		A	99169860	G	A	99169860	2	1	144	1	0	0	0	0	0	0	0	1	12251	1277	45	2		2	POP1	8	99169860	Silent	SNP	G	TCGA-13-1501-01A-01W-0545-08	53087	99169860	47194162	32	7973											
FLJ43860	389690	broad.mit.edu	37	8	142445324	142445324	+	RNA	SNP	C	C	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr8:142445324C>T	ENST00000606664.1	+	0	680				MROH5_ENST00000430863.1_RNA														p.?(2)									CAGCACAGCACAGCGGTAGAA	0.662																																																2	Unknown(2)	ovary(2)	8											34	44	41					8																	142445324		2157	4260	6417	142514506			389690																															8.37:g.142445324C>T			142514506		Missense_Mutation	SNP	ENST00000606664.1	37																																																																																					0.662	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			T	142445324	C	T	142445324	1	4	144	0	1	0	0	0	0	0	0	0	5930	478	17	2		2	FLJ43860	8	142445324	RNA	SNP	C	TCGA-13-1501-01A-01W-0545-08	43275464	142445324	3918698	33	7974											
AK3	50808	broad.mit.edu	37	9	4718447	4718447	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr9:4718447G>C	ENST00000381809.3	-	4	765	c.535C>G	c.(535-537)Caa>Gaa	p.Q179E	AK3_ENST00000359883.2_Missense_Mutation_p.Q109E|AK3_ENST00000447596.4_Missense_Mutation_p.Q139E	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	177					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)	p.Q179E(1)		large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	GGCTTTGTTTGGTCTTCATAA	0.433																																																1	Substitution - Missense(1)	ovary(1)	9											168	153	158					9																	4718447		2203	4300	6503	4708447	SO:0001583	missense	50808			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"adenylate kinase 6", "adenylate kinase 3 like 1"	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.535C>G	9.37:g.4718447G>C	ENSP00000371230:p.Gln179Glu		4708447	B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	ENST00000381809.3	37	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566274	0.65651	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	T;T;T	0.76839	0.96;-1.05;0.96	5.36	2.33	0.28932	.	0.234638	0.46145	N	0.000307	T	0.75302	0.3831	L	0.46947	1.48	0.38960	D	0.958523	P;D	0.57257	0.931;0.979	P;P	0.49665	0.519;0.618	T	0.73824	-0.3861	10	0.44086	T	0.13	-13.3043	11.601	0.51003	0.0:0.2529:0.6159:0.1312	.	139;179	E7ET30;Q9UIJ7	.;KAD3_HUMAN	E	179;109;109;139	ENSP00000371230:Q179E;ENSP00000352948:Q109E;ENSP00000413933:Q139E	ENSP00000352948:Q109E	Q	-	1	0	AK3	4708447	0.997000	0.39634	0.012000	0.15200	0.994000	0.84299	2.450000	0.44943	0.185000	0.20105	0.655000	0.94253	CAA		0.433	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	NM_016282		C	4718447	G	C	4718447	3	2	144	1	0	0	0	0	1	0	0	0	441	1357	47	3	156	3	AK3	9	4718447	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08		4718447	136494984	34	7975											
GLDC	2731	broad.mit.edu	37	9	6554727	6554736	+	Frame_Shift_Del	DEL	GAAGATTTAG	GAAGATTTAG	-			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	GAAGATTTAG	GAAGATTTAG	-	-	GAAGATTTAG	GAAGATTTAG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr9:6554727_6554736delGAAGATTTAG	ENST00000321612.6	-	19	2398_2407	c.2248_2257delCTAAATCTTC	c.(2248-2259)ctaaatcttcacfs	p.LNLH750fs		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	750					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.L750fs*20(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AAGGTCTTGTGAAGATTTAGGTGCGAGACA	0.552																																																1	Deletion - Frameshift(1)	ovary(1)	9																																								6544736	SO:0001589	frameshift_variant	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2248_2257delCTAAATCTTC	9.37:g.6554727_6554736delGAAGATTTAG	ENSP00000370737:p.Leu750fs		6544727	Q2M2F8	Frame_Shift_Del	DEL	ENST00000321612.6	37	CCDS34987.1																																																																																				0.552	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		-	6554736	GAAGATTTAG	-	6554727	7	5	144	1	0	1	0	1	0	0	0	0	6433	1290	45	0	833	0	GLDC	9	6554727	Frame_Shift_Del	DEL	GAAGATTTAG	TCGA-13-1501-01A-01W-0545-08	1836280	6554727	134658704	35	7976											
VWA2	340706	broad.mit.edu	37	10	116037774	116037774	+	Missense_Mutation	SNP	G	G	T	rs199562177	byFrequency	TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr10:116037774G>T	ENST00000392982.3	+	7	918	c.668G>T	c.(667-669)aGc>aTc	p.S223I	VWA2_ENST00000603594.1_Missense_Mutation_p.S223I			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	223					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.S223I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGCACCCTCAGCAGCTCGGCC	0.647																																																1	Substitution - Missense(1)	ovary(1)	10											58	49	52					10																	116037774		2203	4300	6503	116027764	SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.668G>T	10.37:g.116037774G>T	ENSP00000376708:p.Ser223Ile		116027764	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	G	12.55	1.972630	0.34848	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.67698	-0.28	5.6	2.62	0.31277	von Willebrand factor, type A (1);	0.952104	0.08840	N	0.885977	T	0.63663	0.2530	M	0.72118	2.19	0.09310	N	1	P;P	0.46912	0.818;0.886	B;B	0.39876	0.165;0.312	T	0.50363	-0.8837	10	0.25751	T	0.34	.	10.4772	0.44672	0.0:0.3669:0.519:0.1141	.	223;223	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	I	223	ENSP00000376708:S223I	ENSP00000298715:S223I	S	+	2	0	VWA2	116027764	0.001000	0.12720	0.077000	0.20336	0.417000	0.31264	0.706000	0.25690	0.707000	0.31934	0.561000	0.74099	AGC		0.647	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		T	116037774	G	T	116037774	3	4	144	1	0	0	0	0	1	0	0	0	17239	971	34	3	690	3	VWA2	10	116037774	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08		116037774	19496973	36	7977											
ART5	116969	broad.mit.edu	37	11	3661421	3661421	+	Nonsense_Mutation	SNP	G	G	A	rs376288672		TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr11:3661421G>A	ENST00000397068.3	-	2	630	c.238C>T	c.(238-240)Cga>Tga	p.R80*	ART5_ENST00000359918.4_Nonsense_Mutation_p.R80*|ART5_ENST00000397067.3_Nonsense_Mutation_p.R80*|TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	80					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)	p.R80*(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAAGCCCTCGACGCTTGTCC	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	11						G	stop/ARG,stop/ARG	1,4401	2.1+/-5.4	0,1,2200	65	62	63		238,238	3	0	11		63	0,8596		0,0,4298	no	stop-gained,stop-gained	ART5	NM_001079536.1,NM_053017.3	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	80/292,80/292	3661421	1,12997	2201	4298	6499	3617997	SO:0001587	stop_gained	116969			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.238C>T	11.37:g.3661421G>A	ENSP00000380258:p.Arg80*		3617997	C9IYG7|Q6UX84|Q86W02	Nonsense_Mutation	SNP	ENST00000397068.3	37	CCDS7743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.84|11.84	1.758406|1.758406	0.31137|0.31137	2.27E-4|2.27E-4	0.0|0.0	ENSG00000167311|ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918;ENST00000425767|ENST00000453353	.|.	.|.	.|.	6.07|6.07	2.97|2.97	0.34412|0.34412	.|.	1.988220|.	0.01958|.	N|.	0.043143|.	.|T	.|0.44393	.|0.1291	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54111	.|-0.8342	.|3	0.16896|.	T|.	0.51|.	5.9041|5.9041	8.2867|8.2867	0.31932|0.31932	0.0:0.2994:0.5259:0.1747|0.0:0.2994:0.5259:0.1747	.|.	.|.	.|.	.|.	X|L	80;80;80;59|36	.|.	ENSP00000352992:R80X|.	R|S	-|-	1|2	2|0	ART5|ART5	3617997|3617997	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.015000|0.015000	0.08874|0.08874	0.157000|0.157000	0.16402|0.16402	1.537000|1.537000	0.49254|0.49254	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.582	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		A	3661421	G	A	3661421	4	1	144	1	0	0	0	0	0	1	0	0	1000	1066	37	1	649	1	ART5	11	3661421	Nonsense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08		3661421	131345095	37	7978											
ACCSL	390110	broad.mit.edu	37	11	44077627	44077627	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr11:44077627A>T	ENST00000378832.1	+	10	1233	c.1177A>T	c.(1177-1179)Acc>Tcc	p.T393S		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	393					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.T393S(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GATCTGGGGTACCAGTAAGGT	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											147	138	141					11																	44077627		1921	4130	6051	44034203	SO:0001583	missense	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1177A>T	11.37:g.44077627A>T	ENSP00000368109:p.Thr393Ser		44034203		Missense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	A	12.11	1.838704	0.32513	.	.	ENSG00000205126	ENST00000378832	D	0.90620	-2.7	5.08	-1.53	0.08611	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.403435	0.28821	N	0.014025	D	0.88858	0.6551	M	0.71206	2.165	0.09310	N	0.999995	B	0.25235	0.121	B	0.39152	0.292	T	0.82252	-0.0549	10	0.72032	D	0.01	-8.2622	5.0271	0.14391	0.4978:0.2715:0.2307:0.0	.	393	Q4AC99	1A1L2_HUMAN	S	393	ENSP00000368109:T393S	ENSP00000368109:T393S	T	+	1	0	ACCSL	44034203	0.559000	0.26562	0.387000	0.26183	0.763000	0.43281	0.798000	0.27014	-0.353000	0.08224	-0.250000	0.11733	ACC		0.438	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		T	44077627	A	T	44077627	3	4	144	1	0	0	0	0	1	0	0	0	134	391	14	5	1215	5	ACCSL	11	44077627	Missense_Mutation	SNP	A	TCGA-13-1501-01A-01W-0545-08	40416206	44077627	90928889	38	7979											
ATM	472	broad.mit.edu	37	11	108235819	108235819	+	Missense_Mutation	SNP	A	A	G	rs587780644		TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr11:108235819A>G	ENST00000452508.2	+	63	9050	c.8861A>G	c.(8860-8862)tAt>tGt	p.Y2954C	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.Y2954C|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2954	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.Y2954C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTCCTTCTATATGATCCACTC	0.368			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	2	Substitution - Missense(2)	ovary(1)|liver(1)	11											85	79	81					11																	108235819		2201	4298	6499	107741029	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8861A>G	11.37:g.108235819A>G	ENSP00000388058:p.Tyr2954Cys		107741029	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724599	0.68959	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.81908	-1.55;-1.55	5.71	5.71	0.89125	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95248	0.8357	10	0.87932	D	0	.	16.0336	0.80603	1.0:0.0:0.0:0.0	.	2954	Q13315	ATM_HUMAN	C	2954	ENSP00000278616:Y2954C;ENSP00000388058:Y2954C	ENSP00000278616:Y2954C	Y	+	2	0	ATM	107741029	1.000000	0.71417	0.994000	0.49952	0.892000	0.51952	7.100000	0.76989	2.189000	0.69895	0.529000	0.55759	TAT		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108235819	A	G	108235819	3	3	144	1	0	0	0	0	1	0	0	0	1109	449	16	4	9103	4	ATM	11	108235819	Missense_Mutation	SNP	A	TCGA-13-1501-01A-01W-0545-08	64158192	108235819	26770697	39	7980											
DIXDC1	85458	broad.mit.edu	37	11	111856023	111856023	+	Missense_Mutation	SNP	G	G	A	rs371156857		TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr11:111856023G>A	ENST00000440460.2	+	9	1280	c.983G>A	c.(982-984)gGt>gAt	p.G328D	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.G117D	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	329					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)	p.G328D(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGTGAACCAGGTGTCAATCCC	0.433																																																1	Substitution - Missense(1)	ovary(1)	11											112	107	108					11																	111856023		1888	4108	5996	111361233	SO:0001583	missense	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.983G>A	11.37:g.111856023G>A	ENSP00000394352:p.Gly328Asp		111361233	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37		.	.	.	.	.	.	.	.	.	.	G	24.6	4.553558	0.86127	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.19938	2.11;2.11	5.68	5.68	0.88126	.	0.150213	0.64402	D	0.000014	T	0.50497	0.1619	.	.	.	0.51482	D	0.999925	D;D	0.89917	0.999;1.0	D;D	0.97110	0.959;1.0	T	0.48937	-0.8990	9	0.56958	D	0.05	-16.243	18.777	0.91915	0.0:0.0:1.0:0.0	.	117;329	E7EQ17;Q155Q3	.;DIXC1_HUMAN	D	328;117	ENSP00000394352:G328D;ENSP00000314068:G117D	ENSP00000314068:G117D	G	+	2	0	DIXDC1	111361233	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	5.269000	0.65542	2.697000	0.92050	0.491000	0.48974	GGT		0.433	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		A	111856023	G	A	111856023	3	1	144	1	0	0	0	0	1	0	0	0	4541	1261	44	2	1042	2	DIXDC1	11	111856023	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	3620204	111856023	23150493	40	7981											
MCAM	4162	broad.mit.edu	37	11	119182586	119182586	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr11:119182586C>G	ENST00000264036.4	-	10	1231	c.1217G>C	c.(1216-1218)cGc>cCc	p.R406P	MCAM_ENST00000392814.1_Missense_Mutation_p.R355P	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	406	Ig-like C2-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R406P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CGCCACGCAGCGATAGCCGCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	11											102	103	103					11																	119182586		2199	4295	6494	118687796	SO:0001583	missense	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1217G>C	11.37:g.119182586C>G	ENSP00000264036:p.Arg406Pro		118687796	O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530401	0.27387	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.22743	1.94;1.94	4.73	2.42	0.29668	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34745	0.0908	M	0.80616	2.505	0.30204	N	0.798345	P	0.40909	0.732	P	0.48488	0.579	T	0.22661	-1.0210	9	0.34782	T	0.22	-11.1508	10.0077	0.41968	0.6736:0.3264:0.0:0.0	.	406	P43121	MUC18_HUMAN	P	406;355	ENSP00000264036:R406P;ENSP00000376561:R355P	ENSP00000264036:R406P	R	-	2	0	MCAM	118687796	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	1.317000	0.33631	0.373000	0.24621	0.462000	0.41574	CGC		0.622	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			G	119182586	C	G	119182586	3	3	144	1	0	0	0	0	1	0	0	0	9368	768	27	3	751	3	MCAM	11	119182586	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	7326563	119182586	15823930	41	7982											
CD163L1	283316	broad.mit.edu	37	12	7586046	7586046	+	Silent	SNP	A	A	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr12:7586046A>G	ENST00000313599.3	-	3	426	c.369T>C	c.(367-369)gcT>gcC	p.A123A	CD163L1_ENST00000416109.2_Silent_p.A123A|CD163L1_ENST00000396630.1_Silent_p.A123A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	123	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.A123A(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTCCCAGAGAGCTGACTCAT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	12											109	103	105					12																	7586046		2203	4300	6503	7477313	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.369T>C	12.37:g.7586046A>G			7477313	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				0.423	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		G	7586046	A	G	7586046	2	3	144	1	0	0	0	0	0	0	0	1	2968	291	11	4		4	CD163L1	12	7586046	Silent	SNP	A	TCGA-13-1501-01A-01W-0545-08		7586046	126265849	42	7983											
PDE3A	5139	broad.mit.edu	37	12	20799874	20799874	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr12:20799874G>C	ENST00000359062.3	+	12	2595	c.2555G>C	c.(2554-2556)aGt>aCt	p.S852T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	852	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.S852T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GTTGCAACTAGTGCTCCTCAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	12											108	101	103					12																	20799874		2203	4300	6503	20691141	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2555G>C	12.37:g.20799874G>C	ENSP00000351957:p.Ser852Thr		20691141	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222737	0.79464	.	.	ENSG00000172572	ENST00000359062	T	0.77750	-1.12	5.85	5.85	0.93711	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.116052	0.85682	D	0.000000	D	0.86723	0.6001	M	0.76433	2.335	0.51482	D	0.999922	D	0.76494	0.999	D	0.70487	0.969	D	0.87448	0.2399	10	0.72032	D	0.01	.	13.3699	0.60707	0.0717:0.0:0.9283:0.0	.	852	Q14432	PDE3A_HUMAN	T	852	ENSP00000351957:S852T	ENSP00000351957:S852T	S	+	2	0	PDE3A	20691141	1.000000	0.71417	0.988000	0.46212	0.971000	0.66376	7.568000	0.82369	2.766000	0.95052	0.643000	0.83706	AGT		0.418	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			C	20799874	G	C	20799874	3	2	144	1	0	0	0	0	1	0	0	0	11637	1029	36	3	2601	3	PDE3A	12	20799874	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	13213828	20799874	113052021	43	7984											
KRT6A	3853	broad.mit.edu	37	12	52881580	52881580	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr12:52881580C>A	ENST00000330722.6	-	9	1687	c.1619G>T	c.(1618-1620)aGc>aTc	p.S540I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	540	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.S540I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAACAGAGCTGAGGCCACC	0.582																																																1	Substitution - Missense(1)	ovary(1)	12											77	85	82					12																	52881580		2203	4296	6499	51167847	SO:0001583	missense	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1619G>T	12.37:g.52881580C>A	ENSP00000369317:p.Ser540Ile		51167847	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	15.33	2.801280	0.50315	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.88509	-2.39	4.53	4.53	0.55603	.	0.000000	0.56097	D	0.000023	D	0.89822	0.6826	M	0.74881	2.28	0.36572	D	0.873067	P	0.36733	0.567	B	0.40534	0.332	D	0.91604	0.5297	10	0.35671	T	0.21	.	17.827	0.88668	0.0:1.0:0.0:0.0	.	540	P02538	K2C6A_HUMAN	I	540;496	ENSP00000369317:S540I	ENSP00000369317:S540I	S	-	2	0	KRT6A	51167847	0.013000	0.17824	1.000000	0.80357	0.977000	0.68977	1.571000	0.36450	2.449000	0.82847	0.650000	0.86243	AGC		0.582	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		A	52881580	C	A	52881580	3	1	144	1	0	0	0	0	1	0	0	0	8480	797	28	3	79	3	KRT6A	12	52881580	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	32081706	52881580	80970315	44	7985											
MTUS2	23281	broad.mit.edu	37	13	29599077	29599077	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr13:29599077T>C	ENST00000431530.3	+	1	330	c.272T>C	c.(271-273)cTt>cCt	p.L91P		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	81						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.L91P(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTTCACCAACTTCAGGGCTTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	13											34	32	33					13																	29599077		1815	4071	5886	28497077	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.272T>C	13.37:g.29599077T>C	ENSP00000392057:p.Leu91Pro		28497077	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	2.552	-0.303769	0.05495	.	.	ENSG00000132938	ENST00000431530	T	0.18174	2.23	5.37	1.67	0.24075	.	0.297582	0.23787	N	0.044579	T	0.12689	0.0308	L	0.43152	1.355	0.35396	D	0.791174	B	0.23249	0.082	B	0.22386	0.039	T	0.16958	-1.0385	9	.	.	.	.	7.7097	0.28671	0.0:0.322:0.0:0.678	.	81	Q5JR59	MTUS2_HUMAN	P	91	ENSP00000392057:L91P	.	L	+	2	0	MTUS2	28497077	0.022000	0.18835	0.833000	0.33012	0.021000	0.10359	0.352000	0.20113	0.352000	0.24053	-0.376000	0.06991	CTT		0.453	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		C	29599077	T	C	29599077	3	2	144	1	0	0	0	0	1	0	0	0	9966	1609	56	4	274	4	MTUS2	13	29599077	Missense_Mutation	SNP	T	TCGA-13-1501-01A-01W-0545-08		29599077	85570801	45	7986											
MAB21L1	4081	broad.mit.edu	37	13	36049751	36049751	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr13:36049751T>G	ENST00000379919.4	-	1	1081	c.525A>C	c.(523-525)aaA>aaC	p.K175N	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	175					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.K175N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCCCGGTGCATTTAAAGGCCG	0.592																																																1	Substitution - Missense(1)	ovary(1)	13											61	66	64					13																	36049751		2203	4300	6503	34947751	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.525A>C	13.37:g.36049751T>G	ENSP00000369251:p.Lys175Asn		34947751	Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518274	0.64634	.	.	ENSG00000180660	ENST00000379919	T	0.09350	2.99	5.66	1.75	0.24633	.	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	M	0.73962	2.25	0.80722	D	1	B	0.29590	0.25	B	0.36885	0.235	T	0.02533	-1.1145	10	0.37606	T	0.19	-41.1483	7.4006	0.26962	0.0:0.5411:0.0:0.4589	.	175	Q13394	MB211_HUMAN	N	175	ENSP00000369251:K175N	ENSP00000369251:K175N	K	-	3	2	MAB21L1	34947751	0.997000	0.39634	1.000000	0.80357	0.939000	0.58152	0.516000	0.22817	0.414000	0.25790	-0.250000	0.11733	AAA		0.592	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		G	36049751	T	G	36049751	3	3	144	1	0	0	0	0	1	0	0	0	9141	1490	52	5	558	5	MAB21L1	13	36049751	Missense_Mutation	SNP	T	TCGA-13-1501-01A-01W-0545-08	6450674	36049751	79120127	46	7987											
NDFIP2	54602	broad.mit.edu	37	13	80095082	80095082	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr13:80095082T>A	ENST00000218652.7	+	2	511	c.459T>A	c.(457-459)agT>agA	p.S153R	NDFIP2_ENST00000494647.1_3'UTR	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	153					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.S153R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		CATATAGTAGTATTACTGTGG	0.393																																																1	Substitution - Missense(1)	ovary(1)	13											97	87	90					13																	80095082		2203	4300	6503	78993083	SO:0001583	missense	54602			AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.459T>A	13.37:g.80095082T>A	ENSP00000218652:p.Ser153Arg		78993083	Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836774	0.50951	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.36878	1.24;1.23	5.75	0.187	0.15109	.	0.226724	0.49916	D	0.000124	T	0.26195	0.0639	L	0.47716	1.5	0.43271	D	0.995226	B;B	0.20550	0.042;0.046	B;B	0.22152	0.038;0.011	T	0.05289	-1.0894	10	0.51188	T	0.08	0.2312	5.1664	0.15088	0.0:0.4072:0.1619:0.4309	.	59;153	B4DGY6;Q9NV92	.;NFIP2_HUMAN	R	153;70	ENSP00000218652:S153R;ENSP00000419200:S70R	ENSP00000218652:S153R	S	+	3	2	NDFIP2	78993083	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	0.532000	0.23067	0.112000	0.17975	0.533000	0.62120	AGT		0.393	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			A	80095082	T	A	80095082	3	1	144	1	0	0	0	0	1	0	0	0	10246	1635	57	5	465	5	NDFIP2	13	80095082	Missense_Mutation	SNP	T	TCGA-13-1501-01A-01W-0545-08	44045331	80095082	35074796	47	7988											
OR6S1	341799	broad.mit.edu	37	14	21109650	21109650	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr14:21109650G>C	ENST00000320704.3	-	1	200	c.201C>G	c.(199-201)aaC>aaG	p.N67K		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N67K(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GGCAGGACAGGTTACCCAGAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	14											110	104	106					14																	21109650		2203	4300	6503	20179490	SO:0001583	missense	341799			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.201C>G	14.37:g.21109650G>C	ENSP00000313110:p.Asn67Lys		20179490	Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314140	0.60414	.	.	ENSG00000181803	ENST00000320704	T	0.12879	2.64	5.76	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000049	T	0.30103	0.0754	M	0.86864	2.845	0.30246	N	0.794522	D	0.61080	0.989	P	0.54100	0.742	T	0.34004	-0.9846	10	0.87932	D	0	-12.6385	8.0041	0.30315	0.318:0.0:0.682:0.0	.	67	Q8NH40	OR6S1_HUMAN	K	67	ENSP00000313110:N67K	ENSP00000313110:N67K	N	-	3	2	OR6S1	20179490	0.013000	0.17824	0.990000	0.47175	0.996000	0.88848	0.683000	0.25349	0.334000	0.23590	0.655000	0.94253	AAC		0.453	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			C	21109650	G	C	21109650	3	2	144	1	0	0	0	0	1	0	0	0	11209	1252	44	3	798	3	OR6S1	14	21109650	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08		21109650	86239890	48	7989											
MDGA2	161357	broad.mit.edu	37	14	47389224	47389224	+	Silent	SNP	G	G	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr14:47389224G>T	ENST00000399232.2	-	10	2386	c.2022C>A	c.(2020-2022)ggC>ggA	p.G674G	MDGA2_ENST00000357362.3_Silent_p.G445G|MDGA2_ENST00000426342.1_Silent_p.G445G|MDGA2_ENST00000439988.3_Silent_p.G743G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	674	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G445G(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCTGCCTGATGCCCAACCGGT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	14											110	102	104					14																	47389224		1897	4119	6016	46458974	SO:0001819	synonymous_variant	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2022C>A	14.37:g.47389224G>T			46458974	F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37																																																																																					0.423	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		T	47389224	G	T	47389224	2	4	144	1	0	0	0	0	0	0	0	1	9407	1306	46	3		3	MDGA2	14	47389224	Silent	SNP	G	TCGA-13-1501-01A-01W-0545-08	26279574	47389224	59960316	49	7990											
ZC3H14	79882	broad.mit.edu	37	14	89039323	89039323	+	Missense_Mutation	SNP	G	G	C	rs370316955		TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr14:89039323G>C	ENST00000251038.5	+	6	1058	c.833G>C	c.(832-834)aGa>aCa	p.R278T	ZC3H14_ENST00000555755.1_Missense_Mutation_p.R278T|ZC3H14_ENST00000359301.3_Missense_Mutation_p.R244T|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R278T|ZC3H14_ENST00000557607.1_Missense_Mutation_p.R123T|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R244T|ZC3H14_ENST00000393514.5_Missense_Mutation_p.R278T|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R278T	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	278						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R278T(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCGTTCTTTAGAAACAACTCG	0.373																																																1	Substitution - Missense(1)	ovary(1)	14											72	74	74					14																	89039323		2203	4300	6503	88109076	SO:0001583	missense	79882			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.833G>C	14.37:g.89039323G>C	ENSP00000251038:p.Arg278Thr		88109076	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.48|11.48	1.649872|1.649872	0.29336|0.29336	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.|.	.|.	.|.	5.92|5.92	3.85|3.85	0.44370|0.44370	.|.	.|0.195823	.|0.45867	.|D	.|0.000322	T|T	0.37404|0.37404	0.1002|0.1002	L|L	0.43152|0.43152	1.355|1.355	0.32969|0.32969	D|D	0.522139|0.522139	.|B;B;B;B;B;B	.|0.34329	.|0.372;0.241;0.277;0.066;0.449;0.066	.|B;B;B;B;B;B	.|0.35550	.|0.116;0.094;0.109;0.074;0.205;0.074	T|T	0.53194|0.53194	-0.8473|-0.8473	5|9	.|0.54805	.|T	.|0.06	-15.0966|-15.0966	6.8825|6.8825	0.24181|0.24181	0.3027:0.0:0.6973:0.0|0.3027:0.0:0.6973:0.0	.|.	.|278;259;278;278;278;278	.|G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.|.;.;.;.;.;ZC3HE_HUMAN	Q|T	194|278;278;278;244;278;259;278;123;278;278;244	.|.	.|ENSP00000251038:R278T	E|R	+|+	1|2	0|0	ZC3H14|ZC3H14	88109076|88109076	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.209000|0.209000	0.24338|0.24338	3.039000|3.039000	0.49791|0.49791	1.488000|1.488000	0.48433|0.48433	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.373	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		C	89039323	G	C	89039323	3	2	144	1	0	0	0	0	1	0	0	0	17566	942	33	3	855	3	ZC3H14	14	89039323	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	41650099	89039323	18310217	50	7991											
HCN4	10021	broad.mit.edu	37	15	73635779	73635779	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr15:73635779A>T	ENST00000261917.3	-	2	2149	c.1156T>A	c.(1156-1158)Tta>Ata	p.L386I	RP11-272D12.1_ENST00000557981.1_RNA|RP11-272D12.1_ENST00000558742.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	386					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L386I(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AACAGGCGTAAGAGGCTGAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	15											85	67	73					15																	73635779		2198	4297	6495	71422832	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1156T>A	15.37:g.73635779A>T	ENSP00000261917:p.Leu386Ile		71422832	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445158	0.63178	.	.	ENSG00000138622	ENST00000261917	D	0.98926	-5.24	5.34	1.31	0.21738	Ion transport (1);	.	.	.	.	D	0.98305	0.9438	L	0.52905	1.665	0.45979	D	0.998799	D	0.89917	1.0	D	0.87578	0.998	D	0.96345	0.9254	9	0.36615	T	0.2	.	9.5508	0.39308	0.3509:0.0:0.6491:0.0	.	386	Q9Y3Q4	HCN4_HUMAN	I	386	ENSP00000261917:L386I	ENSP00000261917:L386I	L	-	1	2	HCN4	71422832	1.000000	0.71417	0.996000	0.52242	0.641000	0.38312	2.869000	0.48444	0.051000	0.15978	-0.899000	0.02877	TTA		0.562	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73635779	A	T	73635779	3	4	144	1	0	0	0	0	1	0	0	0	6999	69	3	5	2483	5	HCN4	15	73635779	Missense_Mutation	SNP	A	TCGA-13-1501-01A-01W-0545-08		73635779	28895613	51	7992											
UBE2Q2	92912	broad.mit.edu	37	15	76165768	76165768	+	Splice_Site	SNP	G	G	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr15:76165768G>T	ENST00000267938.4	+	5	829		c.e5-1		UBE2Q2_ENST00000561851.1_Splice_Site|UBE2Q2_ENST00000338677.4_Splice_Site|UBE2Q2_ENST00000569423.1_Splice_Site	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2						protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TCTCTTTGTAGGATATAGAAG	0.318																																																1	Unknown(1)	ovary(1)	15											62	62	62					15																	76165768		2197	4293	6490	73952823	SO:0001630	splice_region_variant	92912			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"Ubiquitin-conjugating enzymes E2"	19248	protein-coding gene	gene with protein product		612501	"ubiquitin-conjugating enzyme E2Q (putative) 2"			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.448-1G>T	15.37:g.76165768G>T			73952823	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Splice_Site	SNP	ENST00000267938.4	37	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326375	0.60743	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5159	0.84300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2Q2	73952823	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.475000	0.73582	2.304000	0.77564	0.637000	0.83480	.		0.318	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469	Intron	T	76165768	G	T	76165768	5	4	144	1	0	0	0	0	0	0	1	0	16870	1014	35	3	601	3	UBE2Q2	15	76165768	Splice_Site	SNP	G	TCGA-13-1501-01A-01W-0545-08	2529989	76165768	26365624	52	7993											
ITFG1	81533	broad.mit.edu	37	16	47494797	47494797	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr16:47494797C>A	ENST00000320640.6	-	1	388	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W	ITFG1_ENST00000544001.2_Intron|PHKB_ENST00000299167.8_5'Flank|PHKB_ENST00000566044.1_5'Flank|PHKB_ENST00000455779.1_5'Flank|PHKB_ENST00000323584.5_5'Flank	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	54						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G54W(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTGAGGTCCCCGAAAGCCGCA	0.677																																																1	Substitution - Missense(1)	ovary(1)	16											34	28	30					16																	47494797		2201	4300	6501	46052298	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.160G>T	16.37:g.47494797C>A	ENSP00000319918:p.Gly54Trp		46052298	Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060989	0.93846	.	.	ENSG00000129636	ENST00000320640	T	0.27890	1.64	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64997	-0.6275	10	0.87932	D	0	-8.1625	17.5503	0.87873	0.0:1.0:0.0:0.0	.	54	Q8TB96	TIP_HUMAN	W	54	ENSP00000319918:G54W	ENSP00000319918:G54W	G	-	1	0	ITFG1	46052298	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.385000	0.73182	2.359000	0.80004	0.591000	0.81541	GGG		0.677	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		A	47494797	C	A	47494797	3	1	144	1	0	0	0	0	1	0	0	0	7869	652	23	3	1750	3	ITFG1	16	47494797	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08		47494797	42859956	53	7994											
TP53	7157	broad.mit.edu	37	17	7578496	7578496	+	Missense_Mutation	SNP	A	A	T	rs587782197		TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr17:7578496A>T	ENST00000269305.4	-	5	623	c.434T>A	c.(433-435)cTg>cAg	p.L145Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.L145Q|TP53_ENST00000413465.2_Missense_Mutation_p.L145Q|TP53_ENST00000455263.2_Missense_Mutation_p.L145Q|TP53_ENST00000359597.4_Missense_Mutation_p.L145Q|TP53_ENST00000420246.2_Missense_Mutation_p.L145Q	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	145	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(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)	ATCAACCCACAGCTGCACAGG	0.602		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"	57	Substitution - Missense(41)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	breast(11)|ovary(9)|large_intestine(7)|central_nervous_system(5)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|stomach(2)|urinary_tract(2)|liver(2)|prostate(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	17											57	57	57					17																	7578496		2203	4300	6503	7519221	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.434T>A	17.37:g.7578496A>T	ENSP00000269305:p.Leu145Gln		7519221	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	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089239	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99818	-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.153372	0.45361	D	0.000370	D	0.99736	0.9896	M	0.71581	2.175	0.51482	D	0.999926	D;D;D;D;D;D;D	0.89917	1.0;0.967;0.996;1.0;0.978;0.993;1.0	D;P;D;D;D;D;D	0.87578	0.998;0.899;0.955;0.997;0.966;0.955;0.997	D	0.97018	0.9741	10	0.87932	D	0	-1.0943	13.8301	0.63375	1.0:0.0:0.0:0.0	.	106;145;145;52;145;145;145	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	145;145;145;145;145;145;134;52;13;52;13;145	ENSP00000410739:L145Q;ENSP00000352610:L145Q;ENSP00000269305:L145Q;ENSP00000398846:L145Q;ENSP00000391127:L145Q;ENSP00000391478:L145Q;ENSP00000425104:L13Q;ENSP00000423862:L52Q;ENSP00000424104:L145Q	ENSP00000269305:L145Q	L	-	2	0	TP53	7519221	1.000000	0.71417	0.420000	0.26596	0.013000	0.08279	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	CTG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578496	A	T	7578496	3	4	144	1	0	0	0	0	1	0	0	0	16381	188	7	5	864	5	TP53	17	7578496	Missense_Mutation	SNP	A	TCGA-13-1501-01A-01W-0545-08		7578496	73616714	54	7995											
ACLY	47	broad.mit.edu	37	17	40025030	40025030	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr17:40025030G>C	ENST00000352035.2	-	28	3273	c.3143C>G	c.(3142-3144)gCt>gGt	p.A1048G	ACLY_ENST00000393896.2_Missense_Mutation_p.A1038G|ACLY_ENST00000537919.1_Missense_Mutation_p.A777G|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000353196.1_Missense_Mutation_p.A1038G|ACLY_ENST00000590151.1_Missense_Mutation_p.A1048G	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1048					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.A1048G(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATATTCATCAGCTTCCTCCCT	0.448																																					Colon(64;807 1396 15971 30971)											1	Substitution - Missense(1)	ovary(1)	17											157	138	145					17																	40025030		2203	4300	6503	37278556	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3143C>G	17.37:g.40025030G>C	ENSP00000253792:p.Ala1048Gly		37278556	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	g	36	5.613920	0.96637	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.90004	-1.63;-1.63;-2.6;-1.63	5.52	5.52	0.82312	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.94791	0.8318	M	0.81802	2.56	0.80722	D	1	P;D;D;D;D	0.76494	0.944;0.989;0.989;0.999;0.969	P;P;P;D;P	0.74023	0.722;0.861;0.861;0.982;0.793	D	0.94777	0.7950	10	0.87932	D	0	.	19.6407	0.95757	0.0:0.0:1.0:0.0	.	777;1092;1102;1038;1048	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	G	1048;1102;1038;777;1038	ENSP00000253792:A1048G;ENSP00000345398:A1038G;ENSP00000445349:A777G;ENSP00000377474:A1038G	ENSP00000253792:A1048G	A	-	2	0	ACLY	37278556	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.050000	0.93843	2.878000	0.98634	0.651000	0.88453	GCT		0.448	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		C	40025030	G	C	40025030	3	2	144	1	0	0	0	0	1	0	0	0	143	971	34	3	170	3	ACLY	17	40025030	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	32446534	40025030	41170180	55	7996											
ANKRD29	147463	broad.mit.edu	37	18	21218841	21218841	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr18:21218841A>C	ENST00000592179.1	-	4	456	c.302T>G	c.(301-303)tTt>tGt	p.F101C	ANKRD29_ENST00000284207.7_Missense_Mutation_p.F101C|ANKRD29_ENST00000322980.9_Missense_Mutation_p.F101C	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	101								p.F101C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGATGCTCCAAATCCAAAGAG	0.423																																																1	Substitution - Missense(1)	ovary(1)	18											111	103	106					18																	21218841		2203	4300	6503	19472839	SO:0001583	missense	147463			AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"Ankyrin repeat domain containing"	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.302T>G	18.37:g.21218841A>C	ENSP00000468354:p.Phe101Cys		19472839	B2R972|Q6ZWE8|Q96LU9	Missense_Mutation	SNP	ENST00000592179.1	37	CCDS11879.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500804	0.64298	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	T;T	0.64438	-0.09;-0.1	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	L	0.36672	1.1	0.80722	D	1	D;D	0.65815	0.988;0.995	P;D	0.64237	0.724;0.923	T	0.65742	-0.6094	10	0.38643	T	0.18	.	10.9096	0.47101	0.8594:0.0:0.0:0.1406	.	101;101	Q8N6D5-3;Q8N6D5	.;ANR29_HUMAN	C	101	ENSP00000323387:F101C;ENSP00000284207:F101C	ENSP00000284207:F101C	F	-	2	0	ANKRD29	19472839	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.300000	0.72776	2.291000	0.77112	0.533000	0.62120	TTT		0.423	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		C	21218841	A	C	21218841	3	2	144	1	0	0	0	0	1	0	0	0	657	14	1	5	631	5	ANKRD29	18	21218841	Missense_Mutation	SNP	A	TCGA-13-1501-01A-01W-0545-08		21218841	56858407	56	7997											
ZNF57	126295	broad.mit.edu	37	19	2917849	2917849	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr19:2917849T>G	ENST00000306908.5	+	4	1378	c.1230T>G	c.(1228-1230)caT>caG	p.H410Q	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.H378Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H410Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGAGGTCATTTGAGGACGC	0.433																																					NSCLC(150;910 1964 4303 10464 26498)											1	Substitution - Missense(1)	ovary(1)	19											99	89	92					19																	2917849		2203	4300	6503	2868849	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1230T>G	19.37:g.2917849T>G	ENSP00000303696:p.His410Gln		2868849	Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423025	0.25639	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	D;D	0.86865	-2.18;-2.18	2.25	-3.65	0.04502	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94548	0.8244	H	0.97540	4.025	0.09310	N	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.88115	0.2828	9	0.87932	D	0	.	8.2465	0.31691	0.0:0.2628:0.0:0.7372	.	410	Q68EA5	ZNF57_HUMAN	Q	410;412;378	ENSP00000303696:H410Q;ENSP00000430223:H378Q	ENSP00000303696:H410Q	H	+	3	2	ZNF57	2868849	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.929000	0.01558	-1.193000	0.02688	0.418000	0.28097	CAT		0.433	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		G	2917849	T	G	2917849	3	3	144	1	0	0	0	0	1	0	0	0	18001	1490	52	5	1244	5	ZNF57	19	2917849	Missense_Mutation	SNP	T	TCGA-13-1501-01A-01W-0545-08		2917849	56211134	57	7998											
OR7D4	125958	broad.mit.edu	37	19	9324997	9324997	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr19:9324997C>T	ENST00000308682.2	-	1	545	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E173K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGCGGAATCTCAGTGCCTGTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											96	90	92					19																	9324997		2203	4300	6503	9185997	SO:0001583	missense	125958				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.517G>A	19.37:g.9324997C>T	ENSP00000310488:p.Glu173Lys		9185997	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146698	0.21288	.	.	ENSG00000174667	ENST00000308682	T	0.00115	8.71	4.0	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.00144	0.0004	L	0.33792	1.035	0.09310	N	1	P	0.35628	0.513	B	0.43838	0.433	T	0.19811	-1.0294	10	0.51188	T	0.08	.	5.2584	0.15559	0.0:0.6389:0.1684:0.1926	.	173	Q8NG98	OR7D4_HUMAN	K	173	ENSP00000310488:E173K	ENSP00000310488:E173K	E	-	1	0	OR7D4	9185997	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-1.227000	0.02950	0.484000	0.27630	0.436000	0.28706	GAG		0.507	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			T	9324997	C	T	9324997	3	4	144	1	0	0	0	0	1	0	0	0	11220	835	29	2	425	2	OR7D4	19	9324997	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	6407148	9324997	49803986	58	7999											
SMARCA4	6597	broad.mit.edu	37	19	11105512	11105512	+	Silent	SNP	C	C	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr19:11105512C>A	ENST00000429416.3	+	10	1709	c.1428C>A	c.(1426-1428)ctC>ctA	p.L476L	SMARCA4_ENST00000541122.2_Silent_p.L476L|SMARCA4_ENST00000358026.2_Silent_p.L476L|SMARCA4_ENST00000444061.3_Silent_p.L476L|SMARCA4_ENST00000413806.3_Silent_p.L476L|SMARCA4_ENST00000450717.3_Silent_p.L476L|SMARCA4_ENST00000590574.1_Silent_p.L476L|SMARCA4_ENST00000589677.1_Silent_p.L476L|SMARCA4_ENST00000344626.4_Silent_p.L476L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	476	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L476L(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGGAATACCTCAATAGCATTC	0.493			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	2	Unknown(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	19											76	72	73					19																	11105512		2203	4300	6503	10966512	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1428C>A	19.37:g.11105512C>A			10966512	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																				0.493	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		A	11105512	C	A	11105512	2	1	144	1	0	0	0	0	0	0	0	1	14773	813	29	3		3	SMARCA4	19	11105512	Silent	SNP	C	TCGA-13-1501-01A-01W-0545-08	1780515	11105512	48023471	59	8000											
ATP1A3	478	broad.mit.edu	37	19	42472996	42472996	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr19:42472996C>A	ENST00000302102.5	-	20	2910	c.2760G>T	c.(2758-2760)caG>caT	p.Q920H	ATP1A3_ENST00000543770.1_Missense_Mutation_p.Q931H|ATP1A3_ENST00000545399.1_Missense_Mutation_p.Q933H|ATP1A3_ENST00000602133.1_Missense_Mutation_p.Q890H	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	920					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.Q920H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GATCGGCCCACTGGACGACAA	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											132	97	109					19																	42472996		2203	4300	6503	47164836	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2760G>T	19.37:g.42472996C>A	ENSP00000302397:p.Gln920His		47164836	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831146	0.50845	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	3.27	2.23	0.28157	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.072732	0.56097	D	0.000026	D	0.98792	0.9593	H	0.99336	4.52	0.80722	D	1	D;D;D;D	0.76494	0.994;0.992;0.999;0.993	D;D;D;D	0.79108	0.978;0.968;0.992;0.981	D	0.97114	0.9806	10	0.87932	D	0	.	4.5861	0.12282	0.0:0.7327:0.0:0.2673	.	933;931;920;920	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	H	920;920;933;890;664;931	ENSP00000302397:Q920H;ENSP00000411503:Q920H;ENSP00000444688:Q933H;ENSP00000437577:Q931H	ENSP00000302397:Q920H	Q	-	3	2	ATP1A3	47164836	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	0.955000	0.29188	1.854000	0.53819	0.462000	0.41574	CAG		0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		A	42472996	C	A	42472996	3	1	144	1	0	0	0	0	1	0	0	0	1130	564	20	3	297	3	ATP1A3	19	42472996	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	31367484	42472996	16655987	60	8001											
CACNG6	59285	broad.mit.edu	37	19	54515404	54515404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr19:54515404G>A	ENST00000252729.2	+	4	1334	c.744G>A	c.(742-744)tgG>tgA	p.W248*	CACNG6_ENST00000352529.1_Nonsense_Mutation_p.W177*|CACNG6_ENST00000346968.2_Nonsense_Mutation_p.W202*	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	248					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.W248*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCTGGCCCTGGGGGTCCCTCT	0.662																																																1	Substitution - Nonsense(1)	ovary(1)	19											38	43	41					19																	54515404		2194	4286	6480	59207216	SO:0001587	stop_gained	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.744G>A	19.37:g.54515404G>A	ENSP00000252729:p.Trp248*		59207216		Nonsense_Mutation	SNP	ENST00000252729.2	37	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	G	38	7.143028	0.98092	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	.	.	.	3.89	3.89	0.44902	.	0.086330	0.49916	D	0.000122	.	.	.	.	.	.	0.40690	D	0.98238	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5603	11.7327	0.51746	0.0:0.0:1.0:0.0	.	.	.	.	X	248;177;202	.	ENSP00000252729:W248X	W	+	3	0	CACNG6	59207216	0.993000	0.37304	0.958000	0.39756	0.636000	0.38137	2.689000	0.46993	2.491000	0.84063	0.650000	0.86243	TGG		0.662	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			A	54515404	G	A	54515404	4	1	144	1	0	0	0	0	0	1	0	0	2561	1241	43	2	758	2	CACNG6	19	54515404	Nonsense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	12042408	54515404	4613579	61	8002											
PCSK2	5126	broad.mit.edu	37	20	17446023	17446023	+	Missense_Mutation	SNP	C	C	T	rs142020979		TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr20:17446023C>T	ENST00000262545.2	+	11	1570	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	PCSK2_ENST00000377899.1_Missense_Mutation_p.R400W|PCSK2_ENST00000536609.1_Missense_Mutation_p.R384W|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	419	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R419W(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CACCTCCAAACGGAACCAGCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	20						C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	101	73	83		1198,1150,1255	2.4	0.9	20	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PCSK2	NM_001201528.1,NM_001201529.1,NM_002594.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	400/620,384/604,419/639	17446023	1,13005	2203	4300	6503	17394023	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1255C>T	20.37:g.17446023C>T	ENSP00000262545:p.Arg419Trp		17394023	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554926	0.65425	0.0	1.16E-4	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87256	-2.23;-2.23;-2.23	5.61	2.37	0.29283	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.91680	0.7370	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.935	D	0.90027	0.4132	10	0.66056	D	0.02	-27.8199	6.946	0.24518	0.5006:0.4112:0.0:0.0881	.	384;400;419	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	W	400;419;384	ENSP00000367131:R400W;ENSP00000262545:R419W;ENSP00000437458:R384W	ENSP00000262545:R419W	R	+	1	2	PCSK2	17394023	1.000000	0.71417	0.949000	0.38748	0.988000	0.76386	2.261000	0.43276	0.722000	0.32252	0.555000	0.69702	CGG		0.582	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17446023	C	T	17446023	3	4	144	1	0	0	0	0	1	0	0	0	11601	527	19	1	1297	1	PCSK2	20	17446023	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08		17446023	45579497	62	8003											
STAU1	6780	broad.mit.edu	37	20	47741010	47741010	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chr20:47741010C>T	ENST00000371856.2	-	7	1134	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	STAU1_ENST00000340954.7_Missense_Mutation_p.A161T|STAU1_ENST00000360426.4_Missense_Mutation_p.A161T|STAU1_ENST00000371802.1_Missense_Mutation_p.A167T|STAU1_ENST00000347458.5_Missense_Mutation_p.A161T|STAU1_ENST00000371792.1_Missense_Mutation_p.A161T|STAU1_ENST00000371828.3_Missense_Mutation_p.A167T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	242	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.A242T(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCTATGGCGGCATTTTTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	20											163	181	175					20																	47741010		2203	4300	6503	47174417	SO:0001583	missense	6780				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.724G>A	20.37:g.47741010C>T	ENSP00000360922:p.Ala242Thr		47174417	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337601	0.95758	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	D;D;D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.33	5.33	0.75918	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99461	1.0943	10	0.87932	D	0	-10.4462	19.0449	0.93015	0.0:1.0:0.0:0.0	.	242;167	O95793;Q5JW29	STAU1_HUMAN;.	T	167;161;242;161;161;161;167;161;167	ENSP00000360893:A167T;ENSP00000345425:A161T;ENSP00000360922:A242T;ENSP00000353604:A161T;ENSP00000323443:A161T;ENSP00000360867:A167T;ENSP00000360857:A161T;ENSP00000416779:A167T	ENSP00000345425:A161T	A	-	1	0	STAU1	47174417	1.000000	0.71417	0.376000	0.26042	0.702000	0.40608	7.814000	0.86154	2.492000	0.84095	0.650000	0.86243	GCC		0.468	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		T	47741010	C	T	47741010	3	4	144	1	0	0	0	0	1	0	0	0	15274	768	27	1	1041	1	STAU1	20	47741010	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	30294987	47741010	15284510	63	8004											
PPP1R3F	89801	broad.mit.edu	37	X	49142296	49142296	+	Splice_Site	SNP	G	G	C			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chrX:49142296G>C	ENST00000055335.6	+	4	1160	c.1144G>C	c.(1144-1146)Gtt>Ctt	p.V382L	PPP1R3F_ENST00000495799.1_Splice_Site_p.V36L|PPP1R3F_ENST00000438316.1_Splice_Site_p.V53L|PPP1R3F_ENST00000376188.1_Splice_Site_p.V36L|PPP1R3F_ENST00000466508.1_Splice_Site_p.V36L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	382					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.V382L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					ATGGCTCCAGGTTTCTGACGT	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											37	37	37					X																	49142296		2203	4300	6503	49029240	SO:0001630	splice_region_variant	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1144-1G>C	X.37:g.49142296G>C			49029240	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012863	0.54468	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.62105	0.48;0.48;0.05;0.48;0.48	5.27	4.4	0.53042	.	0.000000	0.43110	D	0.000612	T	0.58821	0.2149	L	0.27053	0.805	0.30122	N	0.8056	P;D;P	0.54964	0.94;0.969;0.901	P;P;P	0.56434	0.798;0.798;0.458	T	0.56829	-0.7914	9	.	.	.	-10.6803	9.3255	0.37990	0.1056:0.0:0.8944:0.0	.	53;67;382	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	L	36;53;382;36;36	ENSP00000420687:V36L;ENSP00000415548:V53L;ENSP00000055335:V382L;ENSP00000417535:V36L;ENSP00000365359:V36L	.	V	+	1	0	PPP1R3F	49029240	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.292000	0.43549	2.195000	0.70347	0.529000	0.55759	GTT		0.572	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	Missense_Mutation	C	49142296	G	C	49142296	5	2	144	1	0	0	0	0	0	0	1	0	12378	1275	44	3	1158	3	PPP1R3F	23	49142296	Splice_Site	SNP	G	TCGA-13-1501-01A-01W-0545-08		49142296	106128264	64	8005											
CCNB3	85417	broad.mit.edu	37	X	50037981	50037981	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chrX:50037981G>A	ENST00000376042.1	+	5	621	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	CCNB3_ENST00000276014.7_Missense_Mutation_p.R108Q|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	108					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.R108Q(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGAATAAGCGGAATCTAAAA	0.398																																																2	Substitution - Missense(2)	ovary(2)	X											115	98	104					X																	50037981		2203	4300	6503	50054721	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.323G>A	X.37:g.50037981G>A	ENSP00000365210:p.Arg108Gln		50054721	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394712	0.25205	.	.	ENSG00000147082	ENST00000376042;ENST00000396540;ENST00000276014	T;T	0.12361	2.69;2.69	3.98	-0.506	0.11989	.	.	.	.	.	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	P	0.36222	0.544	B	0.24269	0.052	T	0.32798	-0.9893	8	.	.	.	.	0.4556	0.00508	0.2569:0.1257:0.1934:0.424	.	108	Q8WWL7	CCNB3_HUMAN	Q	108	ENSP00000365210:R108Q;ENSP00000276014:R108Q	.	R	+	2	0	CCNB3	50054721	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.151000	0.16283	-0.272000	0.09259	-0.332000	0.08345	CGG		0.398	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			A	50037981	G	A	50037981	3	1	144	1	0	0	0	0	1	0	0	0	2914	1116	39	1	333	1	CCNB3	23	50037981	Missense_Mutation	SNP	G	TCGA-13-1501-01A-01W-0545-08	895685	50037981	105232579	65	8006											
MORC4	79710	broad.mit.edu	37	X	106205288	106205288	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chrX:106205288T>A	ENST00000355610.4	-	10	1484	c.1210A>T	c.(1210-1212)Aca>Tca	p.T404S	MORC4_ENST00000535534.1_Missense_Mutation_p.T152S|MORC4_ENST00000255495.7_Missense_Mutation_p.T404S	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	404						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.T227S(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TCTTGAGATGTTTTTTCCTTC	0.368																																																1	Substitution - Missense(1)	ovary(1)	X											278	245	256					X																	106205288		2203	4300	6503	106091944	SO:0001583	missense	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1210A>T	X.37:g.106205288T>A	ENSP00000347821:p.Thr404Ser		106091944	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	t	8.958	0.969844	0.18659	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.29917	2.78;1.55;2.77	5.06	2.35	0.29111	.	0.581530	0.17155	N	0.184910	T	0.12305	0.0299	N	0.12182	0.205	0.19575	N	0.999965	B;B;B	0.16166	0.003;0.016;0.001	B;B;B	0.11329	0.005;0.006;0.003	T	0.22626	-1.0211	10	0.14252	T	0.57	-0.6653	2.1135	0.03708	0.2503:0.1699:0.0:0.5798	.	152;404;404	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	S	404;152;404	ENSP00000347821:T404S;ENSP00000440359:T152S;ENSP00000255495:T404S	ENSP00000255495:T404S	T	-	1	0	MORC4	106091944	0.963000	0.33076	0.743000	0.31040	0.617000	0.37484	0.421000	0.21280	0.671000	0.31185	-0.373000	0.07131	ACA		0.368	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		A	106205288	T	A	106205288	3	1	144	1	0	0	0	0	1	0	0	0	9704	1725	60	5	1635	5	MORC4	23	106205288	Missense_Mutation	SNP	T	TCGA-13-1501-01A-01W-0545-08	56167307	106205288	49065272	66	8007											
MID2	11043	broad.mit.edu	37	X	107084208	107084208	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chrX:107084208C>T	ENST00000262843.6	+	2	861	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	MID2_ENST00000443968.2_Missense_Mutation_p.R105C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	105					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.R85C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CATTATTGATCGCTTCCAGAA	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											74	64	67					X																	107084208		2203	4300	6503	106970864	SO:0001583	missense	11043				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.313C>T	X.37:g.107084208C>T	ENSP00000262843:p.Arg105Cys		106970864	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132723	0.77662	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.18174	2.23;2.23;2.23	5.94	5.94	0.96194	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.972;0.993	T	0.41502	-0.9505	10	0.87932	D	0	.	16.5117	0.84287	0.0:1.0:0.0:0.0	.	105;105	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	C	85;105;105	ENSP00000410730:R85C;ENSP00000262843:R105C;ENSP00000413976:R105C	ENSP00000262843:R105C	R	+	1	0	MID2	106970864	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.987000	0.56944	2.506000	0.84524	0.600000	0.82982	CGC		0.547	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		T	107084208	C	T	107084208	3	4	144	1	0	0	0	0	1	0	0	0	9578	884	31	1	319	1	MID2	23	107084208	Missense_Mutation	SNP	C	TCGA-13-1501-01A-01W-0545-08	878920	107084208	48186352	67	8008											
COL4A6	1288	broad.mit.edu	37	X	107554056	107554056	+	Silent	SNP	T	T	A			TCGA-13-1501-01A-01W-0545-08	TCGA-13-1501-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ac17b64-67f6-4440-bb66-df1c27b6090e	87f543e5-a25b-480b-a5bf-66b37e3ed596	g.chrX:107554056T>A	ENST00000372216.4	-	3	169	c.69A>T	c.(67-69)ggA>ggT	p.G23G	COL4A6_ENST00000334504.7_Silent_p.G22G|COL4A6_ENST00000538570.1_Silent_p.G22G|COL4A6_ENST00000394872.2_Silent_p.G22G|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000545689.1_Silent_p.G22G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	23	7S domain.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G22G(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AAGACTTCTCTCCCTATTAAA	0.408									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - coding silent(1)	ovary(1)	X											81	76	78					X																	107554056		2203	4300	6503	107440712	SO:0001819	synonymous_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.69A>T	X.37:g.107554056T>A			107440712	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																				0.408	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			A	107554056	T	A	107554056	2	1	144	1	0	0	0	0	0	0	0	1	3695	1538	54	5		5	COL4A6	23	107554056	Silent	SNP	T	TCGA-13-1501-01A-01W-0545-08	469848	107554056	47716504	68	8009											
RAP1GAP	5909	broad.mit.edu	37	1	21943859	21943859	+	Silent	SNP	G	G	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr1:21943859G>T	ENST00000374765.4	-	7	431	c.231C>A	c.(229-231)acC>acA	p.T77T	RAP1GAP_ENST00000374763.2_Silent_p.T77T|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000542643.2_Silent_p.T77T|RAP1GAP_ENST00000374761.2_Silent_p.T108T|RAP1GAP_ENST00000290101.4_Silent_p.T141T	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	77					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.T77T(1)|p.T108T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCTTCACCTTGGTTGTGGGCG	0.642																																																2	Substitution - coding silent(2)	ovary(2)	1											158	126	137					1																	21943859		2198	4299	6497	21816446	SO:0001819	synonymous_variant	5909			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.231C>A	1.37:g.21943859G>T			21816446	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	CCDS218.1																																																																																				0.642	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		T	21943859	G	T	21943859	2	4	145	1	0	0	0	0	0	0	0	1	13040	1335	47	3		3	RAP1GAP	1	21943859	Silent	SNP	G	TCGA-13-1504-01A-01W-0545-08		21943859	227306762	1	8010											
IQCC	55721	broad.mit.edu	37	1	32672631	32672631	+	Silent	SNP	C	C	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr1:32672631C>T	ENST00000291358.6	+	4	489	c.468C>T	c.(466-468)agC>agT	p.S156S	RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank|IQCC_ENST00000537469.1_Silent_p.S236S|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	156								p.S156S(2)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCCCCACAGCCAACCTCAGC	0.527																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	1											108	109	109					1																	32672631		2203	4300	6503	32445218	SO:0001819	synonymous_variant	55721			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.468C>T	1.37:g.32672631C>T			32445218	F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Silent	SNP	ENST00000291358.6	37	CCDS355.1																																																																																				0.527	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		T	32672631	C	T	32672631	2	4	145	1	0	0	0	0	0	0	0	1	7804	738	26	2		2	IQCC	1	32672631	Silent	SNP	C	TCGA-13-1504-01A-01W-0545-08	10728772	32672631	216577990	2	8011											
ITPKB	3707	broad.mit.edu	37	1	226923331	226923333	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	GAG	GAG	-	-	GAG	GAG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr1:226923331_226923333delGAG	ENST00000272117.3	-	1	1826_1828	c.1827_1829delCTC	c.(1825-1830)tcctca>tca	p.609_610SS>S	ITPKB_ENST00000429204.1_In_Frame_Del_p.609_610SS>S|ITPKB_ENST00000366784.1_In_Frame_Del_p.609_610SS>S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	609					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.S136L(1)|p.S610L(1)|p.S137del(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TTCGTAGGATGAGGAGAAGCCCG	0.621																																					Colon(84;110 1851 5306 33547)											3	Substitution - Missense(2)|Deletion - In frame(1)	lung(2)|ovary(1)	1																																								224989956	SO:0001651	inframe_deletion	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1827_1829delCTC	1.37:g.226923334_226923336delGAG	ENSP00000272117:p.Ser611del		224989954	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	In_Frame_Del	DEL	ENST00000272117.3	37	CCDS1555.1																																																																																				0.621	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		-	226923333	GAG	-	226923331	7	5	145	1	0	1	0	1	0	0	0	0	7918	1294	45	0	1039	0	ITPKB	1	226923331	In_Frame_Del	DEL	GAG	TCGA-13-1504-01A-01W-0545-08	194250700	226923331	22327290	3	8012											
FAM123C	205147	broad.mit.edu	37	2	131520567	131520567	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr2:131520567A>T	ENST00000423981.1	+	2	1032	c.922A>T	c.(922-924)Agg>Tgg	p.R308W	AMER3_ENST00000321420.4_Missense_Mutation_p.R308W	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	308					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R308W(1)									TGACTTCACCAGGTTCTGGGA	0.657																																																1	Substitution - Missense(1)	ovary(1)	2											32	38	36					2																	131520567		2202	4299	6501	131237037	SO:0001583	missense	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.922A>T	2.37:g.131520567A>T	ENSP00000392700:p.Arg308Trp		131237037	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.155310	0.38021	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.18657	2.2;2.2	5.21	4.04	0.47022	.	0.525997	0.20253	N	0.096032	T	0.23727	0.0574	N	0.22421	0.69	0.20489	N	0.999892	D	0.58620	0.983	P	0.54346	0.749	T	0.04565	-1.0942	10	0.72032	D	0.01	.	10.7781	0.46361	0.8406:0.1594:0.0:0.0	.	308	Q8N944	F123C_HUMAN	W	308	ENSP00000314914:R308W;ENSP00000392700:R308W	ENSP00000314914:R308W	R	+	1	2	FAM123C	131237037	0.988000	0.35896	0.338000	0.25549	0.133000	0.20885	6.134000	0.71689	0.913000	0.36797	-0.488000	0.04728	AGG		0.657	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131520567	A	T	131520567	3	4	145	1	0	0	0	0	1	0	0	0	5424	179	7	5	924	5	FAM123C	2	131520567	Missense_Mutation	SNP	A	TCGA-13-1504-01A-01W-0545-08		131520567	111678806	4	8013											
SEMA3G	56920	broad.mit.edu	37	3	52475405	52475405	+	Missense_Mutation	SNP	C	C	T	rs143736196		TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr3:52475405C>T	ENST00000231721.2	-	7	687	c.688G>A	c.(688-690)Gcc>Acc	p.A230T		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	230	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.A230T(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGGATCCGGGCGGCCATCACA	0.607													C|||	1	0.000199681	0	0.0014	5008	,	,		18557	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	59	47	51		688	-2.6	0	3	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SEMA3G	NM_020163.1	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	230/783	52475405	2,13004	2203	4300	6503	52450445	SO:0001583	missense	56920				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.688G>A	3.37:g.52475405C>T	ENSP00000231721:p.Ala230Thr		52450445	Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	CCDS2856.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.49	1.655506	0.29425	2.27E-4	1.16E-4	ENSG00000010319	ENST00000231721	T	0.10477	2.87	4.56	-2.61	0.06171	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.430329	0.27092	N	0.020978	T	0.06325	0.0163	L	0.41124	1.26	0.09310	N	1	B	0.16802	0.019	B	0.21708	0.036	T	0.33954	-0.9848	10	0.22706	T	0.39	.	2.8178	0.05463	0.1884:0.1861:0.1037:0.5218	.	230	Q9NS98	SEM3G_HUMAN	T	230	ENSP00000231721:A230T	ENSP00000231721:A230T	A	-	1	0	SEMA3G	52450445	0.000000	0.05858	0.003000	0.11579	0.914000	0.54420	0.115000	0.15540	-0.903000	0.03881	-0.215000	0.12644	GCC		0.607	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		T	52475405	C	T	52475405	3	4	145	1	0	0	0	0	1	0	0	0	14033	768	27	1	1700	1	SEMA3G	3	52475405	Missense_Mutation	SNP	C	TCGA-13-1504-01A-01W-0545-08		52475405	145547025	5	8014											
ST3GAL6	10402	broad.mit.edu	37	3	98510736	98510736	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr3:98510736A>G	ENST00000483910.1	+	9	1097	c.808A>G	c.(808-810)Ata>Gta	p.I270V	ST3GAL6_ENST00000265261.6_Missense_Mutation_p.I152V|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.I270V|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	270					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)	p.I270V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GGCGTTTTACATATGTCACGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	3											182	170	174					3																	98510736		2203	4300	6503	99993426	SO:0001583	missense	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.808A>G	3.37:g.98510736A>G	ENSP00000417376:p.Ile270Val		99993426	B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351896	0.41700	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000394162	T;T;T	0.29655	1.56;1.56;1.56	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.43646	1.37	0.45690	D	0.998606	B;B	0.34103	0.34;0.437	B;B	0.44224	0.237;0.444	T	0.08638	-1.0712	10	0.20519	T	0.43	-28.8281	13.9197	0.63923	1.0:0.0:0.0:0.0	.	152;270	F8W6U0;Q9Y274	.;SIA10_HUMAN	V	270;152;270	ENSP00000417376:I270V;ENSP00000265261:I152V;ENSP00000377717:I270V	ENSP00000265261:I152V	I	+	1	0	ST3GAL6	99993426	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.628000	0.46477	2.181000	0.69327	0.533000	0.62120	ATA		0.393	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		G	98510736	A	G	98510736	3	3	145	1	0	0	0	0	1	0	0	0	15221	217	8	4	838	4	ST3GAL6	3	98510736	Missense_Mutation	SNP	A	TCGA-13-1504-01A-01W-0545-08	46035331	98510736	99511694	6	8015											
MED10	84246	broad.mit.edu	37	5	6372624	6372624	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr5:6372624G>A	ENST00000255764.3	-	4	510	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	134					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P134S(1)		kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GGTTAAGAAGGCGGGTGATCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	5											110	109	109					5																	6372624		2203	4300	6503	6425624	SO:0001583	missense	84246				CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"NUT2 homolog (S. cerevisiae)"	612382	"mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.400C>T	5.37:g.6372624G>A	ENSP00000255764:p.Pro134Ser		6425624	C6G491	Missense_Mutation	SNP	ENST00000255764.3	37	CCDS34134.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315448	0.40996	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.97	4.16	0.48862	.	0.160951	0.56097	N	0.000022	T	0.24314	0.0589	N	0.01352	-0.895	0.39651	D	0.970467	B	0.02656	0.0	B	0.01281	0.0	T	0.06534	-1.0821	9	0.51188	T	0.08	-10.1669	10.6405	0.45590	0.0707:0.1334:0.7958:0.0	.	134	Q9BTT4	MED10_HUMAN	S	134	.	ENSP00000255764:P134S	P	-	1	0	MED10	6425624	1.000000	0.71417	0.006000	0.13384	0.035000	0.12851	5.668000	0.68074	0.831000	0.34780	0.655000	0.94253	CCT		0.522	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	NM_032286		A	6372624	G	A	6372624	3	1	145	1	0	0	0	0	1	0	0	0	9426	1203	42	2	11	2	MED10	5	6372624	Missense_Mutation	SNP	G	TCGA-13-1504-01A-01W-0545-08		6372624	174542636	7	8016											
MAST4	375449	broad.mit.edu	37	5	66350300	66350300	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr5:66350300C>T	ENST00000403625.2	+	5	1038	c.743C>T	c.(742-744)tCa>tTa	p.S248L	MAST4_ENST00000490016.2_Missense_Mutation_p.S59L|MAST4_ENST00000261569.7_Missense_Mutation_p.S54L|MAST4_ENST00000405643.1_Missense_Mutation_p.S66L|MAST4_ENST00000404260.3_Missense_Mutation_p.S248L|MAST4_ENST00000403666.1_Missense_Mutation_p.S59L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	248						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S73L(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGACCACACTCACCTCTCTCT	0.343																																																1	Substitution - Missense(1)	ovary(1)	5											98	101	100					5																	66350300		1907	4122	6029	66386056	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.743C>T	5.37:g.66350300C>T	ENSP00000385727:p.Ser248Leu		66386056	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155900	0.94686	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000432426;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	D;D;T;D;T;D	0.84442	-1.84;-1.85;0.49;-1.8;-1.41;-1.77	5.93	5.93	0.95920	.	0.000000	0.50627	U	0.000118	D	0.92450	0.7603	M	0.71206	2.165	0.39818	D	0.972796	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.987;0.998;0.999;0.999;0.998	D	0.92759	0.6222	10	0.87932	D	0	-7.7046	20.328	0.98708	0.0:1.0:0.0:0.0	.	66;248;54;59;59	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	L	248;248;59;59;66;39;66;54;54;54	ENSP00000385048:S248L;ENSP00000385727:S248L;ENSP00000421739:S59L;ENSP00000384313:S59L;ENSP00000384099:S66L;ENSP00000261569:S54L	ENSP00000261569:S54L	S	+	2	0	MAST4	66386056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.654000	0.74387	2.802000	0.96397	0.561000	0.74099	TCA		0.343	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66350300	C	T	66350300	3	4	145	1	0	0	0	0	1	0	0	0	9327	838	29	2	891	2	MAST4	5	66350300	Missense_Mutation	SNP	C	TCGA-13-1504-01A-01W-0545-08	59977676	66350300	114564960	8	8017											
KCNN2	3781	broad.mit.edu	37	5	113740528	113740528	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr5:113740528G>A	ENST00000512097.3	+	4	1994	c.976G>A	c.(976-978)Gca>Aca	p.A326T	KCNN2_ENST00000264773.3_Missense_Mutation_p.A326T|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	326					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A326T(3)|p.A326P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GATAATTGCCGCATGGACTGT	0.328																																																5	Substitution - Missense(5)	lung(2)|large_intestine(2)|ovary(1)	5											132	132	132					5																	113740528		2202	4300	6502	113768427	SO:0001583	missense	3781			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.976G>A	5.37:g.113740528G>A	ENSP00000427120:p.Ala326Thr		113768427	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328347	0.81690	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	T;T	0.33438	1.41;1.41	5.54	5.54	0.83059	Ion transport 2 (1);	0.048822	0.85682	D	0.000000	T	0.42539	0.1207	M	0.73372	2.23	0.80722	D	1	P	0.41643	0.758	B	0.42882	0.401	T	0.45160	-0.9280	10	0.87932	D	0	-3.3539	19.0766	0.93165	0.0:0.0:1.0:0.0	.	326	Q9H2S1	KCNN2_HUMAN	T	326	ENSP00000427120:A326T;ENSP00000264773:A326T	ENSP00000264773:A326T	A	+	1	0	KCNN2	113768427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.616000	0.88540	0.491000	0.48974	GCA		0.328	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		A	113740528	G	A	113740528	3	1	145	1	0	0	0	0	1	0	0	0	8079	1087	38	1	986	1	KCNN2	5	113740528	Missense_Mutation	SNP	G	TCGA-13-1504-01A-01W-0545-08	47390228	113740528	67174732	9	8018											
FOXC1	2296	broad.mit.edu	37	6	1611121	1611121	+	Silent	SNP	C	C	T	rs376255999		TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr6:1611121C>T	ENST00000380874.2	+	1	441	c.441C>T	c.(439-441)ggC>ggT	p.G147G		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	147					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G147G(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		AGAAGCCGGGCAAGGGCAGCT	0.627																																					Pancreas(133;719 1821 3197 26645 35015)											1	Substitution - coding silent(1)	ovary(1)	6						C		1,4405	2.1+/-5.4	0,1,2202	70	76	74		441	3.7	1	6		74	0,8600		0,0,4300	no	coding-synonymous	FOXC1	NM_001453.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		147/554	1611121	1,13005	2203	4300	6503	1556120	SO:0001819	synonymous_variant	2296			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.441C>T	6.37:g.1611121C>T			1556120	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	CCDS4473.1																																																																																				0.627	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			T	1611121	C	T	1611121	2	4	145	1	0	0	0	0	0	0	0	1	5994	697	25	2		2	FOXC1	6	1611121	Silent	SNP	C	TCGA-13-1504-01A-01W-0545-08		1611121	169503946	10	8019											
MAS1L	116511	broad.mit.edu	37	6	29454807	29454807	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr6:29454807C>T	ENST00000377127.3	-	1	931	c.873G>A	c.(871-873)atG>atA	p.M291I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	291					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M291I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGGTGACAAACATTTTGAAAT	0.498																																					NSCLC(153;755 1987 3859 11251 32945)											1	Substitution - Missense(1)	ovary(1)	6											40	44	42					6																	29454807		2203	4300	6503	29562786	SO:0001583	missense	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.873G>A	6.37:g.29454807C>T	ENSP00000366331:p.Met291Ile		29562786	Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	1.528	-0.545016	0.04024	.	.	ENSG00000204687	ENST00000377127	T	0.71579	-0.58	1.87	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16896	0.0406	N	0.11201	0.11	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.13899	-1.0492	9	0.16896	T	0.51	.	0.0097	0.00001	0.284:0.2183:0.1932:0.3044	.	291	P35410	MAS1L_HUMAN	I	291	ENSP00000366331:M291I	ENSP00000366331:M291I	M	-	3	0	MAS1L	29562786	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.090000	0.15025	-0.870000	0.04047	0.420000	0.28162	ATG		0.498	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		T	29454807	C	T	29454807	3	4	145	1	0	0	0	0	1	0	0	0	9321	478	17	2	265	2	MAS1L	6	29454807	Missense_Mutation	SNP	C	TCGA-13-1504-01A-01W-0545-08	27843686	29454807	141660260	11	8020											
DNAH8	1769	broad.mit.edu	37	6	38841076	38841076	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr6:38841076T>C	ENST00000359357.3	+	50	7147	c.6893T>C	c.(6892-6894)tTt>tCt	p.F2298S	DNAH8_ENST00000441566.1_Missense_Mutation_p.F2262S|DNAH8_ENST00000449981.2_Missense_Mutation_p.F2515S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2298	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F2298S(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGAAAGTCTTTGAAGATACA	0.363																																																1	Substitution - Missense(1)	ovary(1)	6											95	86	89					6																	38841076		2203	4300	6503	38949054	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6893T>C	6.37:g.38841076T>C	ENSP00000352312:p.Phe2298Ser		38949054	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	18.66	3.671073	0.67814	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24723	1.84;1.84;1.84	5.78	5.78	0.91487	.	0.109600	0.64402	D	0.000007	T	0.40094	0.1103	M	0.67569	2.06	0.58432	D	0.999994	D	0.71674	0.998	D	0.71656	0.974	T	0.34254	-0.9836	10	0.66056	D	0.02	.	14.6774	0.68989	0.0:0.0:0.0:1.0	.	2298	Q96JB1	DYH8_HUMAN	S	2503;2503;2298;2262	ENSP00000333363:F2503S;ENSP00000352312:F2298S;ENSP00000402294:F2262S	ENSP00000333363:F2503S	F	+	2	0	DNAH8	38949054	1.000000	0.71417	0.894000	0.35097	0.315000	0.28087	5.178000	0.65037	2.197000	0.70478	0.533000	0.62120	TTT		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38841076	T	C	38841076	3	2	145	1	0	0	0	0	1	0	0	0	4607	1841	64	4	7083	4	DNAH8	6	38841076	Missense_Mutation	SNP	T	TCGA-13-1504-01A-01W-0545-08	9386269	38841076	132273991	12	8021											
PAPOLB	56903	broad.mit.edu	37	7	4901292	4901292	+	Silent	SNP	G	G	A	rs367608195		TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr7:4901292G>A	ENST00000404991.1	-	1	333	c.147C>T	c.(145-147)ttC>ttT	p.F49F	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	49					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.F49F(1)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CGAAGACCCCGAAGGGCCTGA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	7						G	,	0,3816		0,0,1908	23	23	23		,150	-6.1	0.8	7		23	1,8291		0,1,4145	no	intron,coding-synonymous	RADIL,PAPOLB	NM_018059.4,NM_020144.4	,	0,1,6053	AA,AG,GG		0.0121,0.0,0.0083	,	,50/638	4901292	1,12107	1908	4146	6054	4867818	SO:0001819	synonymous_variant	56903			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.147C>T	7.37:g.4901292G>A			4867818	Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37																																																																																					0.512	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		A	4901292	G	A	4901292	2	1	145	1	0	0	0	0	0	0	0	1	11430	1049	37	1		1	PAPOLB	7	4901292	Silent	SNP	G	TCGA-13-1504-01A-01W-0545-08		4901292	154237371	13	8022											
PRKAR2B	5577	broad.mit.edu	37	7	106786832	106786832	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr7:106786832G>A	ENST00000265717.4	+	6	926	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	223					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.E223K(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GAGTTTCGGCGAACTGGCCTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	7											195	168	177					7																	106786832		2203	4300	6503	106574068	SO:0001583	missense	5577				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.667G>A	7.37:g.106786832G>A	ENSP00000265717:p.Glu223Lys		106574068	A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	36	5.894434	0.97074	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	T	0.59364	0.27	5.57	5.57	0.84162	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87848	0.2656	10	0.87932	D	0	-0.9786	19.5505	0.95315	0.0:0.0:1.0:0.0	.	223	P31323	KAP3_HUMAN	K	223;223;210	ENSP00000265717:E223K	ENSP00000265717:E223K	E	+	1	0	PRKAR2B	106574068	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	9.807000	0.99171	2.641000	0.89580	0.655000	0.94253	GAA		0.423	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			A	106786832	G	A	106786832	3	1	145	1	0	0	0	0	1	0	0	0	12509	1059	37	1	689	1	PRKAR2B	7	106786832	Missense_Mutation	SNP	G	TCGA-13-1504-01A-01W-0545-08	101885540	106786832	52351831	14	8023											
ING3	54556	broad.mit.edu	37	7	120609159	120609159	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr7:120609159G>C	ENST00000315870.5	+	9	957	c.809G>C	c.(808-810)aGg>aCg	p.R270T	ING3_ENST00000431467.1_Missense_Mutation_p.R255T	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	270					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R270T(1)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TCAATGGCCAGGGAAACAGTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	7											91	88	89					7																	120609159		2203	4300	6503	120396395	SO:0001583	missense	54556			AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"Zinc fingers, PHD-type"	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.809G>C	7.37:g.120609159G>C	ENSP00000320566:p.Arg270Thr		120396395	A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	g	27.7	4.857214	0.91433	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	T;T	0.40756	1.02;1.02	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.62723	1.935	0.80722	D	1	D;D	0.57899	0.981;0.967	D;P	0.69824	0.966;0.879	T	0.51585	-0.8687	10	0.13470	T	0.59	-17.6529	19.6916	0.96005	0.0:0.0:1.0:0.0	.	270;270	Q5GRH6;Q9NXR8	.;ING3_HUMAN	T	270;255	ENSP00000320566:R270T;ENSP00000388506:R255T	ENSP00000320566:R270T	R	+	2	0	ING3	120396395	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.224000	0.95209	2.659000	0.90383	0.484000	0.47621	AGG		0.408	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		C	120609159	G	C	120609159	3	2	145	1	0	0	0	0	1	0	0	0	7737	1000	35	3	859	3	ING3	7	120609159	Missense_Mutation	SNP	G	TCGA-13-1504-01A-01W-0545-08	13822327	120609159	38529504	15	8024											
FLNC	2318	broad.mit.edu	37	7	128484983	128484983	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr7:128484983C>T	ENST00000325888.8	+	21	3725	c.3464C>T	c.(3463-3465)cCg>cTg	p.P1155L	FLNC_ENST00000346177.6_Missense_Mutation_p.P1155L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1155					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.P1155L(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGTTTGACCCGAGCAAGGTG	0.652																																																1	Substitution - Missense(1)	ovary(1)	7											59	64	62					7																	128484983		2108	4228	6336	128272219	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3464C>T	7.37:g.128484983C>T	ENSP00000327145:p.Pro1155Leu		128272219	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554408	0.65425	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86432	-2.12;-2.12	5.56	5.56	0.83823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.89414	3.03	0.80722	D	1	D;D	0.65815	0.995;0.974	P;P	0.56343	0.796;0.698	D	0.93652	0.6974	10	0.87932	D	0	.	13.2469	0.60028	0.0:0.9179:0.0:0.0821	.	1155;1155	Q14315-2;Q14315	.;FLNC_HUMAN	L	1155	ENSP00000327145:P1155L;ENSP00000344002:P1155L	ENSP00000327145:P1155L	P	+	2	0	FLNC	128272219	0.720000	0.27996	0.959000	0.39883	0.364000	0.29643	2.972000	0.49256	2.615000	0.88500	0.555000	0.69702	CCG		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128484983	C	T	128484983	3	4	145	1	0	0	0	0	1	0	0	0	5935	652	23	1	3546	1	FLNC	7	128484983	Missense_Mutation	SNP	C	TCGA-13-1504-01A-01W-0545-08	7875824	128484983	30653680	16	8025											
ZFHX4	79776	broad.mit.edu	37	8	77766282	77766282	+	Silent	SNP	C	C	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr8:77766282C>T	ENST00000521891.2	+	10	7573	c.7125C>T	c.(7123-7125)aaC>aaT	p.N2375N	ZFHX4_ENST00000050961.6_Silent_p.N2330N|ZFHX4_ENST00000455469.2_Silent_p.N2330N|ZFHX4_ENST00000518282.1_Silent_p.N2349N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2330	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N2359K(1)|p.N2359N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTAAAAACGCTGCTGCCC	0.507										HNSCC(33;0.089)																																						2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	8											111	110	110					8																	77766282		2001	4168	6169	77928837	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7125C>T	8.37:g.77766282C>T			77928837	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77766282	C	T	77766282	2	4	145	1	0	0	0	0	0	0	0	1	17635	535	19	1		1	ZFHX4	8	77766282	Silent	SNP	C	TCGA-13-1504-01A-01W-0545-08		77766282	68597740	17	8026											
DCAF4L2	138009	broad.mit.edu	37	8	88885752	88885752	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr8:88885752C>G	ENST00000319675.3	-	1	544	c.448G>C	c.(448-450)Gca>Cca	p.A150P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	150								p.A150P(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGAGTATCTGCAAGTCCCACG	0.547																																																1	Substitution - Missense(1)	ovary(1)	8											95	89	91					8																	88885752		2203	4300	6503	88954868	SO:0001583	missense	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.448G>C	8.37:g.88885752C>G	ENSP00000316496:p.Ala150Pro		88954868		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	7.403	0.633217	0.14322	.	.	ENSG00000176566	ENST00000319675	T	0.69926	-0.44	1.68	-0.6	0.11642	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098022	0.64402	D	0.000001	T	0.66848	0.2831	L	0.51422	1.61	0.23581	N	0.997364	D	0.56746	0.977	P	0.62649	0.905	T	0.57236	-0.7846	10	0.36615	T	0.2	.	4.2677	0.10771	0.0:0.5677:0.0:0.4323	.	150	Q8NA75	DC4L2_HUMAN	P	150	ENSP00000316496:A150P	ENSP00000316496:A150P	A	-	1	0	DCAF4L2	88954868	1.000000	0.71417	0.004000	0.12327	0.027000	0.11550	2.312000	0.43726	-0.345000	0.08325	0.467000	0.42956	GCA		0.547	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		G	88885752	C	G	88885752	3	3	145	1	0	0	0	0	1	0	0	0	4272	710	25	3	743	3	DCAF4L2	8	88885752	Missense_Mutation	SNP	C	TCGA-13-1504-01A-01W-0545-08	11119470	88885752	57478270	18	8027											
CBWD1	55871	broad.mit.edu	37	9	178930	178930	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr9:178930G>C	ENST00000356521.4	-	1	128	c.40C>G	c.(40-42)Cct>Gct	p.P14A	CBWD1_ENST00000314367.10_De_novo_Start_OutOfFrame|CBWD1_ENST00000431099.2_De_novo_Start_OutOfFrame|CBWD1_ENST00000382447.4_Missense_Mutation_p.P14A|CBWD1_ENST00000382389.1_De_novo_Start_OutOfFrame|CBWD1_ENST00000377447.3_Missense_Mutation_p.P14A|CBWD1_ENST00000382393.1_Missense_Mutation_p.P14A|CBWD1_ENST00000377400.4_Missense_Mutation_p.P14A	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	14							ATP binding (GO:0005524)	p.P14A(1)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCTCCGCAGGATCCTCCTCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	9											58	44	49					9																	178930		2091	3087	5178	168930	SO:0001583	missense	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.40C>G	9.37:g.178930G>C	ENSP00000348915:p.Pro14Ala		168930	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	ENST00000356521.4	37	CCDS6438.1	.	.	.	.	.	.	.	.	.	.	.	0.349	-0.945738	0.02304	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000377447;ENST00000377347;ENST00000417415;ENST00000382393	T;T;T;T;T	0.40225	3.21;3.2;3.21;1.62;1.04	3.76	-0.177	0.13307	.	0.660669	0.14559	N	0.312151	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.011	B;B	0.15484	0.013;0.005	T	0.23868	-1.0176	10	0.10377	T	0.69	-7.8286	3.3809	0.07254	0.3336:0.2402:0.4263:0.0	.	14;14	Q9BRT8-3;Q9BRT8	.;CBWD1_HUMAN	A	14	ENSP00000348915:P14A;ENSP00000366617:P14A;ENSP00000371885:P14A;ENSP00000366666:P14A;ENSP00000371830:P14A	ENSP00000348915:P14A	P	-	1	0	CBWD1	168930	0.005000	0.15991	0.109000	0.21407	0.246000	0.25737	0.229000	0.17833	0.090000	0.17273	0.479000	0.44913	CCT		0.577	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491		C	178930	G	C	178930	3	2	145	1	0	0	0	0	1	0	0	0	2712	1174	41	3	1257	3	CBWD1	9	178930	Missense_Mutation	SNP	G	TCGA-13-1504-01A-01W-0545-08		178930	141034501	19	8028											
ADAMTSL1	92949	broad.mit.edu	37	9	18574169	18574169	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr9:18574169G>A	ENST00000380548.4	+	4	718	c.379G>A	c.(379-381)Gga>Aga	p.G127R	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.G127R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.G127R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.G127R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G127R|MIR3152_ENST00000579801.1_RNA|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G127R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	127						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G127R(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAAGCCAAAGGAACAACCCT	0.448																																																2	Substitution - Missense(2)	ovary(2)	9											209	175	187					9																	18574169		2203	4300	6503	18564169	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.379G>A	9.37:g.18574169G>A	ENSP00000369921:p.Gly127Arg		18564169	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155530	0.94686	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;D;D;D;D;D	0.85955	-0.21;-2.05;-2.05;-2.05;-2.05;-2.05	5.25	5.25	0.73442	.	.	.	.	.	D	0.93969	0.8069	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.76575	0.726;0.988	D	0.94842	0.8006	9	0.87932	D	0	.	19.2077	0.93739	0.0:0.0:1.0:0.0	.	127;127	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	R	127	ENSP00000369921:G127R;ENSP00000327887:G127R;ENSP00000401157:G127R;ENSP00000369944:G127R;ENSP00000369940:G127R;ENSP00000276935:G127R	ENSP00000276935:G127R	G	+	1	0	ADAMTSL1	18564169	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.620000	0.88729	0.643000	0.83706	GGA		0.448	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			A	18574169	G	A	18574169	3	1	145	1	0	0	0	0	1	0	0	0	274	1001	35	2	393	2	ADAMTSL1	9	18574169	Missense_Mutation	SNP	G	TCGA-13-1504-01A-01W-0545-08	18395239	18574169	122639262	20	8029											
SLC44A1	23446	broad.mit.edu	37	9	108110708	108110708	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr9:108110708G>T	ENST00000374720.3	+	5	723	c.476G>T	c.(475-477)tGc>tTc	p.C159F	SLC44A1_ENST00000374723.1_Missense_Mutation_p.C159F|SLC44A1_ENST00000374724.1_Missense_Mutation_p.C159F	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	159					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.C159F(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCTGTTCTCTGCCCCAAACTA	0.358																																																1	Substitution - Missense(1)	ovary(1)	9											110	109	109					9																	108110708		2203	4300	6503	107150529	SO:0001583	missense	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.476G>T	9.37:g.108110708G>T	ENSP00000363852:p.Cys159Phe		107150529	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496875	0.85069	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.78364	-1.17;-1.17;-1.17	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.89171	0.6639	M	0.86502	2.82	0.80722	D	1	D;B	0.53745	0.962;0.145	D;B	0.64042	0.921;0.133	D	0.88774	0.3266	10	0.40728	T	0.16	-12.4654	19.2931	0.94110	0.0:0.0:1.0:0.0	.	159;159	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	F	159	ENSP00000363855:C159F;ENSP00000363852:C159F;ENSP00000363856:C159F	ENSP00000363852:C159F	C	+	2	0	SLC44A1	107150529	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.417000	0.90247	2.554000	0.86153	0.655000	0.94253	TGC		0.358	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		T	108110708	G	T	108110708	3	4	145	1	0	0	0	0	1	0	0	0	14638	1319	46	3	494	3	SLC44A1	9	108110708	Missense_Mutation	SNP	G	TCGA-13-1504-01A-01W-0545-08	89536539	108110708	33102723	21	8030											
GLB1L2	89944	broad.mit.edu	37	11	134212707	134212707	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr11:134212707C>T	ENST00000535456.2	+	2	334	c.146C>T	c.(145-147)gCc>gTc	p.A49V	GLB1L2_ENST00000339772.7_Missense_Mutation_p.A49V|GLB1L2_ENST00000389881.3_Missense_Mutation_p.A49V	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	49					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.A49V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGGCTGCAGGCCAAGGGCTGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	11											55	59	57					11																	134212707		2201	4297	6498	133717917	SO:0001583	missense	89944				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.146C>T	11.37:g.134212707C>T	ENSP00000444628:p.Ala49Val		133717917	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238415	0.22711	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.97066	-4.23;-4.23;-4.23	4.86	2.99	0.34606	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.414019	0.26963	N	0.021609	D	0.89497	0.6732	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.23852	0.049	T	0.78288	-0.2262	10	0.09338	T	0.73	-4.6079	8.5144	0.33237	0.0:0.7637:0.0:0.2363	.	49	Q8IW92	GLBL2_HUMAN	V	49	ENSP00000344659:A49V;ENSP00000444628:A49V;ENSP00000374531:A49V	ENSP00000344659:A49V	A	+	2	0	GLB1L2	133717917	0.898000	0.30612	0.000000	0.03702	0.001000	0.01503	4.385000	0.59613	0.655000	0.30866	-0.140000	0.14226	GCC		0.627	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		T	134212707	C	T	134212707	3	4	145	1	0	0	0	0	1	0	0	0	6429	739	26	2	152	2	GLB1L2	11	134212707	Missense_Mutation	SNP	C	TCGA-13-1504-01A-01W-0545-08		134212707	793809	22	8031											
STAB2	55576	broad.mit.edu	37	12	104118857	104118857	+	Silent	SNP	C	C	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr12:104118857C>T	ENST00000388887.2	+	45	4992	c.4788C>T	c.(4786-4788)cgC>cgT	p.R1596R		NM_017564.9	NP_060034.9			stabilin 2									p.R1596R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTACCTGCCGCGGCAGCATTT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	12											120	116	118					12																	104118857		2203	4300	6503	102642987	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4788C>T	12.37:g.104118857C>T			102642987		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104118857	C	T	104118857	2	4	145	1	0	0	0	0	0	0	0	1	15240	755	27	1		1	STAB2	12	104118857	Silent	SNP	C	TCGA-13-1504-01A-01W-0545-08		104118857	29733038	23	8032											
SRRM4	84530	broad.mit.edu	37	12	119568488	119568488	+	Missense_Mutation	SNP	G	G	A	rs532719039		TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr12:119568488G>A	ENST00000267260.4	+	8	1008	c.620G>A	c.(619-621)cGc>cAc	p.R207H	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	207	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.R207H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGGCACCGCGGCCGGTCC	0.622													G|||	1	0.000199681	0	0	5008	,	,		13812	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12											15	18	17					12																	119568488		1876	4091	5967	118052871	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.620G>A	12.37:g.119568488G>A	ENSP00000267260:p.Arg207His		118052871	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212125	0.58452	.	.	ENSG00000139767	ENST00000267260	T	0.27402	1.67	5.17	4.27	0.50696	.	0.412269	0.22551	N	0.058589	T	0.41328	0.1154	L	0.47716	1.5	0.34760	D	0.73263	D	0.69078	0.997	P	0.58391	0.838	T	0.53823	-0.8384	10	0.56958	D	0.05	-12.928	11.3983	0.49856	0.0856:0.0:0.9144:0.0	.	207	A7MD48	SRRM4_HUMAN	H	207	ENSP00000267260:R207H	ENSP00000267260:R207H	R	+	2	0	SRRM4	118052871	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.164000	0.58190	2.415000	0.81967	0.448000	0.29417	CGC		0.622	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		A	119568488	G	A	119568488	3	1	145	1	0	0	0	0	1	0	0	0	15173	1087	38	1	650	1	SRRM4	12	119568488	Missense_Mutation	SNP	G	TCGA-13-1504-01A-01W-0545-08	15449631	119568488	14283407	24	8033											
MUDENG	55745	broad.mit.edu	37	14	57752967	57752967	+	Silent	SNP	A	A	G			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr14:57752967A>G	ENST00000261558.3	+	7	1726	c.1320A>G	c.(1318-1320)acA>acG	p.T440T	AP5M1_ENST00000431972.2_Silent_p.T454T	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	440	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)		p.T440T(1)									TAGATTACACACTTACTGGAT	0.323																																																1	Substitution - coding silent(1)	ovary(1)	14											168	164	165					14																	57752967		2203	4298	6501	56822720	SO:0001819	synonymous_variant	55745			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1320A>G	14.37:g.57752967A>G			56822720	O95354|Q6ZMD7|Q96DX3|Q9NVC5	Silent	SNP	ENST00000261558.3	37	CCDS9729.1																																																																																				0.323	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		G	57752967	A	G	57752967	2	3	145	1	0	0	0	0	0	0	0	1	9983	146	6	4		4	MUDENG	14	57752967	Silent	SNP	A	TCGA-13-1504-01A-01W-0545-08		57752967	49596573	25	8034											
DYNC1H1	1778	broad.mit.edu	37	14	102492939	102492939	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr14:102492939T>A	ENST00000360184.4	+	44	8830	c.8666T>A	c.(8665-8667)tTa>tAa	p.L2889*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2889					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.L2889*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAAGAAGAGTTAAGAGATTAT	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	14											113	112	112					14																	102492939		2203	4300	6503	101562692	SO:0001587	stop_gained	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8666T>A	14.37:g.102492939T>A	ENSP00000348965:p.Leu2889*		101562692	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	51	18.131922	0.99900	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	.	.	.	X	2889	.	ENSP00000348965:L2889X	L	+	2	0	DYNC1H1	101562692	1.000000	0.71417	0.448000	0.26945	0.981000	0.71138	7.768000	0.85345	2.254000	0.74563	0.533000	0.62120	TTA		0.363	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102492939	T	A	102492939	4	1	145	1	0	0	0	0	0	1	0	0	4841	1764	61	5	8840	5	DYNC1H1	14	102492939	Nonsense_Mutation	SNP	T	TCGA-13-1504-01A-01W-0545-08	44739972	102492939	4856601	26	8035											
ACAN	176	broad.mit.edu	37	15	89417204	89417204	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr15:89417204C>T	ENST00000561243.1	+	16	7465	c.7465C>T	c.(7465-7467)Cgg>Tgg	p.R2489W	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Missense_Mutation_p.R2451W|ACAN_ENST00000439576.2_Missense_Mutation_p.R2489W			P16112	PGCA_HUMAN	aggrecan	2374					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R2375W(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCCACCATCCGGTGCCAGCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	15											38	49	45					15																	89417204		2158	4243	6401	87218208	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7465C>T	15.37:g.89417204C>T	ENSP00000453342:p.Arg2489Trp		87218208	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346924	0.61183	.	.	ENSG00000157766	ENST00000439576;ENST00000268134	T	0.66099	-0.19	5.32	4.4	0.53042	.	0.000000	0.30347	N	0.009831	T	0.82047	0.4952	M	0.90252	3.1	0.37768	D	0.926582	D	0.89917	1.0	D	0.79784	0.993	D	0.87710	0.2566	10	0.87932	D	0	-17.4759	14.3858	0.66942	0.149:0.851:0.0:0.0	.	2489	E7EX88	.	W	2489;2375	ENSP00000387356:R2489W	ENSP00000268134:R2375W	R	+	1	2	ACAN	87218208	1.000000	0.71417	0.999000	0.59377	0.085000	0.17905	5.882000	0.69714	1.220000	0.43490	-0.181000	0.13052	CGG		0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89417204	C	T	89417204	3	4	145	1	0	0	0	0	1	0	0	0	117	643	23	1	7527	1	ACAN	15	89417204	Missense_Mutation	SNP	C	TCGA-13-1504-01A-01W-0545-08		89417204	13114188	27	8036											
WDR90	197335	broad.mit.edu	37	16	705065	705065	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr16:705065G>A	ENST00000293879.4	+	14	1474	c.1474G>A	c.(1474-1476)Ggt>Agt	p.G492S	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.G492S			Q96KV7	WDR90_HUMAN	WD repeat domain 90	492								p.G492S(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGTGGGCCTCGGTGGCGAGGT	0.647																																																1	Substitution - Missense(1)	ovary(1)	16											41	51	47					16																	705065		2098	4211	6309	645066	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1474G>A	16.37:g.705065G>A	ENSP00000293879:p.Gly492Ser		645066	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047394	0.36085	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.31510	1.52;1.49	4.56	2.61	0.31194	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.081387	0.48767	U	0.000166	T	0.28001	0.0690	L	0.44542	1.39	0.80722	D	1	D;D;D	0.71674	0.989;0.998;0.99	P;P;B	0.50708	0.586;0.648;0.425	T	0.10989	-1.0606	10	0.12103	T	0.63	.	7.4184	0.27057	0.2664:0.0:0.7336:0.0	.	492;493;492	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	S	492	ENSP00000448122:G492S;ENSP00000293879:G492S	ENSP00000293879:G492S	G	+	1	0	WDR90	645066	1.000000	0.71417	0.003000	0.11579	0.005000	0.04900	3.773000	0.55333	0.393000	0.25203	-0.215000	0.12644	GGT		0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		A	705065	G	A	705065	3	1	145	1	0	0	0	0	1	0	0	0	17337	1116	39	1	1528	1	WDR90	16	705065	Missense_Mutation	SNP	G	TCGA-13-1504-01A-01W-0545-08		705065	89649688	28	8037											
TP53	7157	broad.mit.edu	37	17	7577529	7577529	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr17:7577529A>C	ENST00000269305.4	-	7	941	c.752T>G	c.(751-753)aTc>aGc	p.I251S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.I251S|TP53_ENST00000445888.2_Missense_Mutation_p.I251S|TP53_ENST00000420246.2_Missense_Mutation_p.I251S|TP53_ENST00000413465.2_Missense_Mutation_p.I251S|TP53_ENST00000455263.2_Missense_Mutation_p.I251S	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	251	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I251S(11)|p.I251N(10)|p.0?(8)|p.I251T(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)|p.I251fs*13(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)	GATGGTGAGGATGGGCCTCCG	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	50	Substitution - Missense(25)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(6)|stomach(6)|haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(5)|oesophagus(4)|liver(4)|bone(4)|breast(4)|central_nervous_system(3)|prostate(3)|ovary(2)|thyroid(1)|soft_tissue(1)|skin(1)	17											153	111	125					17																	7577529		2203	4300	6503	7518254	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.752T>G	17.37:g.7577529A>C	ENSP00000269305:p.Ile251Ser		7518254	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	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713126	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0	D	0.96495	0.9367	10	0.87932	D	0	-1.7057	12.3101	0.54924	1.0:0.0:0.0:0.0	.	251;251;251;251;251	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	251;251;251;251;251;251;240;119	ENSP00000410739:I251S;ENSP00000352610:I251S;ENSP00000269305:I251S;ENSP00000398846:I251S;ENSP00000391127:I251S;ENSP00000391478:I251S;ENSP00000425104:I119S	ENSP00000269305:I251S	I	-	2	0	TP53	7518254	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577529	A	C	7577529	3	2	145	1	0	0	0	0	1	0	0	0	16381	333	12	5	538	5	TP53	17	7577529	Missense_Mutation	SNP	A	TCGA-13-1504-01A-01W-0545-08		7577529	73617681	29	8038											
WIPF2	147179	broad.mit.edu	37	17	38416786	38416786	+	Splice_Site	SNP	G	G	A			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr17:38416786G>A	ENST00000323571.4	+	3	303		c.e3-1		WIPF2_ENST00000394103.3_Splice_Site|WIPF2_ENST00000583130.1_Splice_Site|WIPF2_ENST00000536600.1_Splice_Site|WIPF2_ENST00000585043.1_Splice_Site|WIPF2_ENST00000494757.1_Splice_Site	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TTATCCTCCAGGCAAACACAG	0.542										HNSCC(43;0.11)																																						1	Unknown(1)	ovary(1)	17											87	82	84					17																	38416786		2203	4300	6503	35670312	SO:0001630	splice_region_variant	147179			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.64-1G>A	17.37:g.38416786G>A			35670312	A8K0L3|Q658J8|Q71RE1|Q8TE44	Splice_Site	SNP	ENST00000323571.4	37	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377519	0.82682	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9225	0.97093	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WIPF2	35670312	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	8.851000	0.92205	2.709000	0.92574	0.555000	0.69702	.		0.542	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264	Intron	A	38416786	G	A	38416786	5	1	145	1	0	0	0	0	0	0	1	0	17368	1014	35	2	69	2	WIPF2	17	38416786	Splice_Site	SNP	G	TCGA-13-1504-01A-01W-0545-08	30839257	38416786	42778424	30	8039											
OR7C1	26664	broad.mit.edu	37	19	14910869	14910869	+	Missense_Mutation	SNP	A	A	G	rs373552926		TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr19:14910869A>G	ENST00000248073.2	-	1	154	c.80T>C	c.(79-81)cTc>cCc	p.L27P	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	27					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L27P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CAGCCCAAAGAGAATGAACTG	0.483																																																1	Substitution - Missense(1)	ovary(1)	19						A	PRO/LEU	1,4405		0,1,2202	93	84	87		80	3.6	0	19		87	0,8600		0,0,4300	no	missense	OR7C1	NM_198944.1	98	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	27/321	14910869	1,13005	2203	4300	6503	14771869	SO:0001583	missense	26664			X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.80T>C	19.37:g.14910869A>G	ENSP00000248073:p.Leu27Pro		14771869	Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	a	13.39	2.222642	0.39300	2.27E-4	0.0	ENSG00000127530	ENST00000248073	T	0.17691	2.26	3.64	3.64	0.41730	.	0.247416	0.20723	U	0.086867	T	0.47432	0.1445	M	0.92555	3.32	0.09310	N	1	D	0.89917	1.0	D	0.70227	0.968	T	0.44483	-0.9325	10	0.87932	D	0	.	10.5226	0.44929	1.0:0.0:0.0:0.0	.	27	O76099	OR7C1_HUMAN	P	27	ENSP00000248073:L27P	ENSP00000248073:L27P	L	-	2	0	OR7C1	14771869	0.021000	0.18746	0.002000	0.10522	0.030000	0.12068	3.167000	0.50793	1.646000	0.50622	0.443000	0.29094	CTC		0.483	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			G	14910869	A	G	14910869	3	3	145	1	0	0	0	0	1	0	0	0	11217	304	11	4	884	4	OR7C1	19	14910869	Missense_Mutation	SNP	A	TCGA-13-1504-01A-01W-0545-08		14910869	44218114	31	8040											
C20orf197	284756	broad.mit.edu	37	20	58645767	58645767	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr20:58645767T>C	ENST00000313426.1	+	4	491	c.185T>C	c.(184-186)cTg>cCg	p.L62P		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	62								p.L62P(1)		large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			CATCCCACACTGTCCCATGAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	20											113	102	106					20																	58645767		2203	4300	6503	58079162	SO:0001583	missense	284756			AK091179	CCDS13487.1	20q13.33	2006-07-07			ENSG00000176659	ENSG00000176659			26601	protein-coding gene	gene with protein product						12975309	Standard	NM_173644		Approved	FLJ33860	uc002ybj.1	Q8N268	OTTHUMG00000032880	ENST00000313426.1:c.185T>C	20.37:g.58645767T>C	ENSP00000316457:p.Leu62Pro		58079162	Q08EQ0	Missense_Mutation	SNP	ENST00000313426.1	37	CCDS13487.1	.	.	.	.	.	.	.	.	.	.	T	7.771	0.707370	0.15239	.	.	ENSG00000176659	ENST00000313426	.	.	.	2.5	0.0182	0.14116	.	.	.	.	.	T	0.19886	0.0478	N	0.08118	0	0.09310	N	1	B	0.33135	0.399	B	0.40134	0.32	T	0.26916	-1.0089	8	0.87932	D	0	.	2.9418	0.05833	0.0:0.1545:0.259:0.5866	.	62	Q8N268	CT197_HUMAN	P	62	.	ENSP00000316457:L62P	L	+	2	0	C20orf197	58079162	0.000000	0.05858	0.004000	0.12327	0.062000	0.15995	-0.450000	0.06803	-0.023000	0.13963	0.402000	0.26972	CTG		0.463	C20orf197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079944.1	NM_173644		C	58645767	T	C	58645767	3	2	145	1	0	0	0	0	1	0	0	0	2102	1580	55	4	191	4	C20orf197	20	58645767	Missense_Mutation	SNP	T	TCGA-13-1504-01A-01W-0545-08		58645767	4379753	32	8041											
WBP2NL	164684	broad.mit.edu	37	22	42394838	42394838	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chr22:42394838A>T	ENST00000328823.9	+	1	47	c.16A>T	c.(16-18)Agc>Tgc	p.S6C	WBP2NL_ENST00000461730.1_3'UTR	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	6					egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)	p.S6C(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GGTGAATCAGAGCCACACCGA	0.657																																																1	Substitution - Missense(1)	ovary(1)	22											44	42	43					22																	42394838		2203	4300	6503	40724784	SO:0001583	missense	164684			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"postacrosomal sheath WW domain-binding protein"	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.16A>T	22.37:g.42394838A>T	ENSP00000332983:p.Ser6Cys		40724784	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492978	0.64186	.	.	ENSG00000183066	ENST00000328823	T	0.36157	1.27	4.62	3.5	0.40072	.	0.520140	0.16281	N	0.221362	T	0.39226	0.1070	M	0.68952	2.095	0.80722	D	1	D	0.58620	0.983	P	0.47206	0.541	T	0.25882	-1.0119	10	0.41790	T	0.15	-3.0591	7.8584	0.29495	0.7891:0.2109:0.0:0.0	.	6	Q6ICG8	WBP2L_HUMAN	C	6	ENSP00000332983:S6C	ENSP00000332983:S6C	S	+	1	0	WBP2NL	40724784	1.000000	0.71417	0.975000	0.42487	0.436000	0.31835	2.688000	0.46984	2.078000	0.62432	0.459000	0.35465	AGC		0.657	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		T	42394838	A	T	42394838	3	4	145	1	0	0	0	0	1	0	0	0	17260	304	11	5	18	5	WBP2NL	22	42394838	Missense_Mutation	SNP	A	TCGA-13-1504-01A-01W-0545-08		42394838	8909728	33	8042											
PLP1	5354	broad.mit.edu	37	X	103041611	103041611	+	Missense_Mutation	SNP	C	C	T	rs132630295		TCGA-13-1504-01A-01W-0545-08	TCGA-13-1504-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	15c62cbb-78de-42a2-acd8-46599cd61986	4a43a38c-892c-4478-b94f-318dbe282269	g.chrX:103041611C>T	ENST00000303958.2	+	3	555	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000418604.1_Missense_Mutation_p.R137W	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	137			Missing (in HLD1).|R -> W (in SPG2). {ECO:0000269|PubMed:17438221}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.R137W(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TTCTTTGGAGCGGGTGTGTCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											147	125	133					X																	103041611		2203	4300	6503	102928267	SO:0001583	missense	5354			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.409C>T	X.37:g.103041611C>T	ENSP00000305152:p.Arg137Trp		102928267	P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639468	0.67244	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000428755	D;D	0.99376	-5.79;-5.79	5.78	4.84	0.62591	.	0.094680	0.45126	D	0.000386	D	0.98648	0.9547	L	0.36672	1.1	0.33805	A	0.627105	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.60541	0.761;0.761;0.876;0.761	D	0.99913	1.1213	9	0.62326	D	0.03	-11.6148	13.7799	0.63077	0.1648:0.8352:0.0:0.0	.	82;137;137;137	B4DI30;A8K9L3;B1B1G6;P60201	.;.;.;MYPR_HUMAN	W	137;137;115	ENSP00000405750:R137W;ENSP00000305152:R137W	ENSP00000305152:R137W	R	+	1	2	PLP1	102928267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.363000	0.44178	2.417000	0.82017	0.600000	0.82982	CGG		0.552	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			T	103041611	C	T	103041611	3	4	145	1	0	0	0	0	1	0	0	0	12104	759	27	1	419	1	PLP1	23	103041611	Missense_Mutation	SNP	C	TCGA-13-1504-01A-01W-0545-08		103041611	52228949	34	8043											
CROCC	9696	broad.mit.edu	37	1	17250890	17250890	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr1:17250890G>C	ENST00000375541.5	+	3	336	c.267G>C	c.(265-267)gaG>gaC	p.E89D	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.E89D(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCAGCAGGAGCTGTCCCGCG	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											42	34	37					1																	17250890		2203	4300	6503	17123477	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.267G>C	1.37:g.17250890G>C	ENSP00000364691:p.Glu89Asp		17123477		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865932	0.51588	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.19806	2.12	4.88	0.203	0.15195	.	.	.	.	.	T	0.40015	0.1100	M	0.72118	2.19	0.32026	N	0.600187	D	0.71674	0.998	D	0.77557	0.99	T	0.48328	-0.9045	9	0.87932	D	0	.	8.0977	0.30837	0.4257:0.0:0.5743:0.0	.	89	Q5TZA2	CROCC_HUMAN	D	89;60	ENSP00000364691:E89D	ENSP00000364691:E89D	E	+	3	2	CROCC	17123477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.791000	0.38744	0.210000	0.20664	0.591000	0.81541	GAG		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		C	17250890	G	C	17250890	3	2	146	1	0	0	0	0	1	0	0	0	3893	962	34	3	277	3	CROCC	1	17250890	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08		17250890	231999731	1	8044											
CR1	1378	broad.mit.edu	37	1	207790003	207790003	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr1:207790003A>G	ENST00000367049.4	+	41	6745	c.6745A>G	c.(6745-6747)Ata>Gta	p.I2249V	CR1_ENST00000400960.2_Missense_Mutation_p.I1799V|CR1_ENST00000367051.1_Missense_Mutation_p.I1799V|CR1_ENST00000367052.1_Missense_Mutation_p.I1799V|CR1_ENST00000367053.1_Missense_Mutation_p.I1799V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1799					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.I1804V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGAAAAGAAATATCTTACGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											135	130	131					1																	207790003		1891	4111	6002	205856626	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6745A>G	1.37:g.207790003A>G	ENSP00000356016:p.Ile2249Val		205856626	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.958013	0.00049	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	4.15	-8.3	0.01005	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.24470	0.0593	N	0.00801	-1.175	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.17098	0.001;0.017	T	0.50759	-0.8790	9	0.02654	T	1	.	23.1927	0.99980	0.1514:0.0:0.8486:0.0	rs55770942	1799;2249	P17927;E9PDY4	CR1_HUMAN;.	V	1799;1799;1799;1799;2249	ENSP00000356019:I1799V;ENSP00000356018:I1799V;ENSP00000356020:I1799V;ENSP00000383744:I1799V;ENSP00000356016:I2249V	ENSP00000356016:I2249V	I	+	1	0	CR1	205856626	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-2.738000	0.00800	-2.855000	0.00329	-1.192000	0.01694	ATA		0.473	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		G	207790003	A	G	207790003	3	3	146	1	0	0	0	0	1	0	0	0	3840	101	4	4	6907	4	CR1	1	207790003	Missense_Mutation	SNP	A	TCGA-13-1505-01A-01D-0472-08	190539113	207790003	41460618	2	8045											
GPR113	165082	broad.mit.edu	37	2	26534166	26534166	+	Silent	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr2:26534166G>A	ENST00000311519.1	-	11	2429	c.2430C>T	c.(2428-2430)gcC>gcT	p.A810A	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.A611A|GPR113_ENST00000421160.2_Silent_p.A741A|GPR113_ENST00000541401.1_Silent_p.A413A	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	810					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A611A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGCAGGGCGGCGTGGCGGA	0.622																																																1	Substitution - coding silent(1)	ovary(1)	2											67	53	57					2																	26534166		2203	4300	6503	26387670	SO:0001819	synonymous_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2430C>T	2.37:g.26534166G>A			26387670	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	CCDS46239.1																																																																																				0.622	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		A	26534166	G	A	26534166	2	1	146	1	0	0	0	0	0	0	0	1	6630	1103	39	1		1	GPR113	2	26534166	Silent	SNP	G	TCGA-13-1505-01A-01D-0472-08		26534166	216665207	3	8046											
TTN	7273	broad.mit.edu	37	2	179397562	179397562	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr2:179397562G>A	ENST00000591111.1	-	308	99081	c.98857C>T	c.(98857-98859)Cgc>Tgc	p.R32953C	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34594C|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32026C|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25721C|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25654C|TTN_ENST00000460472.2_Missense_Mutation_p.R25529C			Q8WZ42	TITIN_HUMAN	titin	32953			R -> H. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R25529C(1)|p.R32024C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCGGATGCGCTTGGGTCGT	0.448																																																2	Substitution - Missense(2)	ovary(2)	2											108	102	104					2																	179397562		1987	4166	6153	179105808	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98857C>T	2.37:g.179397562G>A	ENSP00000465570:p.Arg32953Cys		179105808	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.121421	0.77436	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.01;-0.03;-0.04	5.81	5.81	0.92471	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.73353	0.3576	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.76785	-0.2831	9	0.87932	D	0	.	19.6737	0.95921	0.0:0.0:1.0:0.0	.	25529;25654;25721;32953	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	32026;25529;25721;25654;25526	ENSP00000343764:R32026C;ENSP00000434586:R25529C;ENSP00000340554:R25721C;ENSP00000352154:R25654C	ENSP00000340554:R25721C	R	-	1	0	TTN	179105808	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.837000	0.99465	2.757000	0.94681	0.462000	0.41574	CGC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179397562	G	A	179397562	3	1	146	1	0	0	0	0	1	0	0	0	16735	1087	38	1	4219	1	TTN	2	179397562	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08	152863396	179397562	63801811	4	8047											
TTN	7273	broad.mit.edu	37	2	179456052	179456052	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr2:179456052A>T	ENST00000591111.1	-	254	55701	c.55477T>A	c.(55477-55479)Tca>Aca	p.S18493T	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S20134T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S17566T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S11261T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S11194T|TTN_ENST00000460472.2_Missense_Mutation_p.S11069T			Q8WZ42	TITIN_HUMAN	titin	18493	Ig-like 106.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S11069T(1)|p.S17564T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAAGTACTGATGAGAAGTTG	0.428																																																2	Substitution - Missense(2)	ovary(2)	2											342	338	339					2																	179456052		1923	4135	6058	179164298	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55477T>A	2.37:g.179456052A>T	ENSP00000465570:p.Ser18493Thr		179164298	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	16.34	3.096242	0.56075	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.11	6.11	0.99139	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28433	0.0703	N	0.16266	0.395	0.39296	D	0.964827	B;B;B;B	0.13145	0.002;0.002;0.002;0.007	B;B;B;B	0.12837	0.008;0.008;0.008;0.008	T	0.13980	-1.0489	9	0.87932	D	0	.	10.0946	0.42466	0.7539:0.0:0.0:0.2461	.	11069;11194;11261;18493	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17566;11069;11261;11194;11067	ENSP00000343764:S17566T;ENSP00000434586:S11069T;ENSP00000340554:S11261T;ENSP00000352154:S11194T	ENSP00000340554:S11261T	S	-	1	0	TTN	179164298	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.727000	0.74764	2.343000	0.79666	0.533000	0.62120	TCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179456052	A	T	179456052	3	4	146	1	0	0	0	0	1	0	0	0	16735	333	12	5	47815	5	TTN	2	179456052	Missense_Mutation	SNP	A	TCGA-13-1505-01A-01D-0472-08	58490	179456052	63743321	5	8048											
RQCD1	9125	broad.mit.edu	37	2	219447753	219447753	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr2:219447753C>A	ENST00000273064.6	+	3	639	c.264C>A	c.(262-264)aaC>aaA	p.N88K	RQCD1_ENST00000542068.1_Missense_Mutation_p.N88K|RQCD1_ENST00000509807.2_Missense_Mutation_p.N88K|RQCD1_ENST00000295701.5_Missense_Mutation_p.N88K	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	88					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N88K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGTCTAACAGAGTTTGCA	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											150	133	138					2																	219447753		2203	4300	6503	219155997	SO:0001583	missense	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.264C>A	2.37:g.219447753C>A	ENSP00000273064:p.Asn88Lys		219155997	B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308003	0.81247	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.47528	0.84;0.89;0.84;0.84	6.08	4.27	0.50696	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.73708	0.969;0.969;0.981	D	0.83365	0.0004	10	0.59425	D	0.04	-0.1165	13.604	0.62037	0.0:0.8724:0.0:0.1276	.	88;88;88	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	K	88	ENSP00000273064:N88K;ENSP00000441357:N88K;ENSP00000443687:N88K;ENSP00000295701:N88K	ENSP00000273064:N88K	N	+	3	2	RQCD1	219155997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.762000	0.38451	1.586000	0.49944	0.655000	0.94253	AAC		0.393	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		A	219447753	C	A	219447753	3	1	146	1	0	0	0	0	1	0	0	0	13673	477	17	3	274	3	RQCD1	2	219447753	Missense_Mutation	SNP	C	TCGA-13-1505-01A-01D-0472-08	39991701	219447753	23751620	6	8049											
C3orf20	84077	broad.mit.edu	37	3	14803007	14803007	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr3:14803007G>T	ENST00000253697.3	+	15	2832	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	C3orf20_ENST00000435614.1_Missense_Mutation_p.G672W|C3orf20_ENST00000412910.1_Missense_Mutation_p.G672W	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	794						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.G794W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTCATTTTTGGGGGCCGTGT	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											67	70	69					3																	14803007		2203	4300	6503	14778011	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2380G>T	3.37:g.14803007G>T	ENSP00000253697:p.Gly794Trp		14778011	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576304	0.65878	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.11063	3.09;2.81;2.81	4.64	4.64	0.57946	.	0.000000	0.49305	D	0.000156	T	0.31638	0.0803	M	0.72479	2.2	0.44417	D	0.997333	D;D	0.71674	0.998;0.998	D;D	0.72075	0.976;0.976	T	0.04440	-1.0951	10	0.87932	D	0	-19.1268	14.795	0.69870	0.0:0.0:1.0:0.0	.	672;794	Q8ND61-2;Q8ND61	.;CC020_HUMAN	W	794;672;672	ENSP00000253697:G794W;ENSP00000402933:G672W;ENSP00000396081:G672W	ENSP00000253697:G794W	G	+	1	0	C3orf20	14778011	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	5.433000	0.66520	2.280000	0.76307	0.591000	0.81541	GGG		0.502	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		T	14803007	G	T	14803007	3	4	146	1	0	0	0	0	1	0	0	0	2213	1348	47	3	2430	3	C3orf20	3	14803007	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08		14803007	183219423	7	8050											
GBE1	2632	broad.mit.edu	37	3	81586152	81586152	+	Silent	SNP	G	G	A	rs373148836		TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr3:81586152G>A	ENST00000429644.2	-	13	2356	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	GBE1_ENST00000489715.1_Silent_p.D530D	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	571					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.D571D(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GAAGGTCGTCGTCAGTTAAAT	0.408									Glycogen Storage Disease, type IV				G|||	1	0.000199681	8e-04	0	5008	,	,		16628	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	3						G		3,3675		0,3,1836	109	105	106		1713	1.5	1	3		106	0,8176		0,0,4088	no	coding-synonymous	GBE1	NM_000158.3		0,3,5924	AA,AG,GG		0.0,0.0816,0.0253		571/703	81586152	3,11851	1839	4088	5927	81668842	SO:0001819	synonymous_variant	2632	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1713C>T	3.37:g.81586152G>A			81668842	B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	CCDS54612.1																																																																																				0.408	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			A	81586152	G	A	81586152	2	1	146	1	0	0	0	0	0	0	0	1	6270	1136	40	1		1	GBE1	3	81586152	Silent	SNP	G	TCGA-13-1505-01A-01D-0472-08	66783145	81586152	116436278	8	8051											
FAT4	79633	broad.mit.edu	37	4	126240977	126240977	+	Silent	SNP	T	T	C			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr4:126240977T>C	ENST00000394329.3	+	1	3424	c.3411T>C	c.(3409-3411)taT>taC	p.Y1137Y		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1137	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y1137Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGTAAGGTATTCTTTTGAAA	0.433																																																2	Substitution - coding silent(2)	ovary(2)	4											170	169	169					4																	126240977		1888	4123	6011	126460427	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3411T>C	4.37:g.126240977T>C			126460427	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126240977	T	C	126240977	2	2	146	1	0	0	0	0	0	0	0	1	5692	1500	52	4		4	FAT4	4	126240977	Silent	SNP	T	TCGA-13-1505-01A-01D-0472-08		126240977	64913299	9	8052											
FAT4	79633	broad.mit.edu	37	4	126372410	126372410	+	Silent	SNP	C	C	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr4:126372410C>A	ENST00000394329.3	+	9	10252	c.10239C>A	c.(10237-10239)atC>atA	p.I3413I	FAT4_ENST00000335110.5_Silent_p.I1711I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3413	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I3413I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTGCAGATCAGTGAAGGGG	0.463																																																2	Substitution - coding silent(2)	ovary(2)	4											164	159	160					4																	126372410		2203	4300	6503	126591860	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10239C>A	4.37:g.126372410C>A			126591860	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126372410	C	A	126372410	2	1	146	1	0	0	0	0	0	0	0	1	5692	816	29	3		3	FAT4	4	126372410	Silent	SNP	C	TCGA-13-1505-01A-01D-0472-08	131433	126372410	64781866	10	8053											
GRIA1	2890	broad.mit.edu	37	5	153078456	153078456	+	Silent	SNP	C	C	T	rs142814149		TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr5:153078456C>T	ENST00000285900.5	+	10	1618	c.1275C>T	c.(1273-1275)aaC>aaT	p.N425N	GRIA1_ENST00000340592.5_Silent_p.N425N|GRIA1_ENST00000518142.1_Silent_p.N345N|GRIA1_ENST00000521843.2_Silent_p.N356N|GRIA1_ENST00000518783.1_Silent_p.N435N|GRIA1_ENST00000448073.4_Silent_p.N435N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	425					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.N425N(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCAAGAAGAACGCCAATCAGT	0.517													C|||	1	0.000199681	0	0	5008	,	,		20845	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	5						C	,	2,4404	4.2+/-10.8	0,2,2201	131	112	118		1275,1275	-1.8	1	5	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	425/907,425/907	153078456	3,13003	2203	4300	6503	153058649	SO:0001819	synonymous_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1275C>T	5.37:g.153078456C>T			153058649	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1																																																																																				0.517	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			T	153078456	C	T	153078456	2	4	146	1	0	0	0	0	0	0	0	1	6767	535	19	1		1	GRIA1	5	153078456	Silent	SNP	C	TCGA-13-1505-01A-01D-0472-08		153078456	27836804	11	8054											
ITK	3702	broad.mit.edu	37	5	156665131	156665131	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr5:156665131G>C	ENST00000422843.3	+	9	933	c.781G>C	c.(781-783)Gcc>Ccc	p.A261P	AC010609.1_ENST00000410154.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	261	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.A261P(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CAAAGAAGGAGCCTTCATGGT	0.488			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - Missense(1)	ovary(1)	5											162	130	141					5																	156665131		2203	4300	6503	156597709	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.781G>C	5.37:g.156665131G>C	ENSP00000398655:p.Ala261Pro		156597709	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548132	0.86022	.	.	ENSG00000113263	ENST00000422843	D	0.89196	-2.48	5.6	4.72	0.59763	SH2 motif (5);	0.103535	0.64402	D	0.000003	D	0.95023	0.8389	M	0.89601	3.045	0.53005	D	0.999965	D	0.76494	0.999	D	0.71656	0.974	D	0.95676	0.8728	10	0.72032	D	0.01	.	14.2097	0.65756	0.0717:0.0:0.9283:0.0	.	261	Q08881	ITK_HUMAN	P	261	ENSP00000398655:A261P	ENSP00000398655:A261P	A	+	1	0	ITK	156597709	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.603000	0.82811	1.360000	0.45960	0.561000	0.74099	GCC		0.488	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			C	156665131	G	C	156665131	3	2	146	1	0	0	0	0	1	0	0	0	7909	971	34	3	815	3	ITK	5	156665131	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08	3586675	156665131	24250129	12	8055											
COL22A1	169044	broad.mit.edu	37	8	139688816	139688816	+	Silent	SNP	C	C	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr8:139688816C>A	ENST00000303045.6	-	41	3581	c.3135G>T	c.(3133-3135)ggG>ggT	p.G1045G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1025G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1045	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1045G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCAGCAACCCCAATGCCTG	0.512										HNSCC(7;0.00092)																																						1	Substitution - coding silent(1)	ovary(1)	8											36	35	35					8																	139688816		2188	4280	6468	139757998	SO:0001819	synonymous_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3135G>T	8.37:g.139688816C>A			139757998	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.512	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139688816	C	A	139688816	2	1	146	1	0	0	0	0	0	0	0	1	3681	610	22	3		3	COL22A1	8	139688816	Silent	SNP	C	TCGA-13-1505-01A-01D-0472-08		139688816	6675206	13	8056											
KANK1	23189	broad.mit.edu	37	9	712652	712652	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr9:712652G>A	ENST00000382303.1	+	7	2538	c.1886G>A	c.(1885-1887)gGt>gAt	p.G629D	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.G629D|KANK1_ENST00000382293.3_Missense_Mutation_p.G471D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	629					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.G471D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CGGTCTATCGGTTGTGGAGAT	0.547																																																1	Substitution - Missense(1)	ovary(1)	9											102	84	90					9																	712652		2203	4300	6503	702652	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1886G>A	9.37:g.712652G>A	ENSP00000371740:p.Gly629Asp		702652	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770091	0.69992	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.55760	0.5;0.5;0.54	5.97	5.05	0.67936	.	0.108055	0.41001	D	0.000963	T	0.71550	0.3353	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.965	T	0.74031	-0.3795	10	0.87932	D	0	-31.3317	16.9104	0.86139	0.0:0.1277:0.8723:0.0	.	629;629	Q5W0W1;Q14678	.;KANK1_HUMAN	D	629;629;629;471	ENSP00000371740:G629D;ENSP00000371734:G629D;ENSP00000371730:G471D	ENSP00000346479:G629D	G	+	2	0	KANK1	702652	1.000000	0.71417	0.715000	0.30552	0.968000	0.65278	5.290000	0.65661	2.836000	0.97738	0.655000	0.94253	GGT		0.547	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		A	712652	G	A	712652	3	1	146	1	0	0	0	0	1	0	0	0	7976	1261	44	2	1892	2	KANK1	9	712652	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08		712652	140500779	14	8057											
COL27A1	85301	broad.mit.edu	37	9	117063983	117063983	+	Missense_Mutation	SNP	C	C	T	rs139690392		TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr9:117063983C>T	ENST00000356083.3	+	55	5222	c.4831C>T	c.(4831-4833)Cgg>Tgg	p.R1611W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1611	Collagen-like 16.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1611W(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCCCAGAGGGCGGCCCGGCCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	9											33	36	35					9																	117063983		2203	4299	6502	116103804	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4831C>T	9.37:g.117063983C>T	ENSP00000348385:p.Arg1611Trp		116103804	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311561	0.40895	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.94376	-3.41	5.47	2.56	0.30785	.	.	.	.	.	D	0.91392	0.7284	L	0.46670	1.46	0.09310	N	1	D	0.61697	0.99	P	0.48114	0.567	T	0.83212	-0.0073	9	0.66056	D	0.02	.	9.0691	0.36482	0.0:0.6242:0.2964:0.0794	.	1611	Q8IZC6	CORA1_HUMAN	W	1611	ENSP00000348385:R1611W	ENSP00000348385:R1611W	R	+	1	2	COL27A1	116103804	0.980000	0.34600	0.245000	0.24217	0.867000	0.49689	2.915000	0.48805	0.249000	0.21456	0.462000	0.41574	CGG		0.617	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117063983	C	T	117063983	3	4	146	1	0	0	0	0	1	0	0	0	3685	759	27	1	5049	1	COL27A1	9	117063983	Missense_Mutation	SNP	C	TCGA-13-1505-01A-01D-0472-08	116351331	117063983	24149448	15	8058											
EIF4G2	1982	broad.mit.edu	37	11	10821215	10821215	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr11:10821215T>G	ENST00000526148.1	-	19	2718	c.2208A>C	c.(2206-2208)gaA>gaC	p.E736D	SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.E698D|EIF4G2_ENST00000339995.5_Missense_Mutation_p.E736D|EIF4G2_ENST00000525681.1_Missense_Mutation_p.E736D	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.E736D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCTTCAACAGTTCCTTCTCCA	0.373																																																1	Substitution - Missense(1)	ovary(1)	11											148	143	144					11																	10821215		2201	4294	6495	10777791	SO:0001583	missense	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2208A>C	11.37:g.10821215T>G	ENSP00000433664:p.Glu736Asp		10777791		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365672	0.61513	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000379653	T;T;T;T	0.20598	2.06;2.06;2.06;2.08	5.52	4.4	0.53042	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	L	0.39514	1.22	0.54753	D	0.999984	B;B	0.21452	0.056;0.056	B;B	0.18561	0.012;0.022	T	0.13683	-1.0500	9	0.14252	T	0.57	-11.2686	7.2544	0.26168	0.0:0.2189:0.0:0.7811	.	736;809	P78344;B4DZF2	IF4G2_HUMAN;.	D	736;736;736;698;809;118	ENSP00000433664:E736D;ENSP00000433371:E736D;ENSP00000340281:E736D;ENSP00000379778:E698D	ENSP00000340281:E736D	E	-	3	2	EIF4G2	10777791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.584000	0.53936	2.101000	0.63845	0.460000	0.39030	GAA		0.373	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		G	10821215	T	G	10821215	3	3	146	1	0	0	0	0	1	0	0	0	5037	1722	60	5	531	5	EIF4G2	11	10821215	Missense_Mutation	SNP	T	TCGA-13-1505-01A-01D-0472-08		10821215	124185301	16	8059											
CD82	3732	broad.mit.edu	37	11	44626655	44626655	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr11:44626655G>A	ENST00000227155.4	+	5	432	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	RP11-58K22.5_ENST00000533814.1_RNA|CD82_ENST00000342935.3_Missense_Mutation_p.V62M|CD82_ENST00000530931.1_3'UTR|RP11-58K22.4_ENST00000532524.1_RNA	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	62						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V62M(1)		large_intestine(1)|ovary(1)	2						CTTCATCGGCGTGGGGGCAGT	0.597																																																1	Substitution - Missense(1)	ovary(1)	11											92	89	90					11																	44626655		2203	4299	6502	44583231	SO:0001583	missense	3732			U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"CD molecules", "Tetraspanins"	6210	protein-coding gene	gene with protein product	"suppression of tumorigenicity 6", "R2 leukocyte antigen"	600623	"kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))", "CD82 antigen"	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.184G>A	11.37:g.44626655G>A	ENSP00000227155:p.Val62Met		44583231	D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Missense_Mutation	SNP	ENST00000227155.4	37	CCDS7909.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791824	0.70452	.	.	ENSG00000085117	ENST00000526958;ENST00000227155;ENST00000342935;ENST00000532544;ENST00000527737;ENST00000524704;ENST00000525813;ENST00000530601	D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.64	3.71	0.42584	.	0.062767	0.64402	D	0.000005	D	0.88588	0.6477	M	0.80422	2.495	0.54753	D	0.999984	D;D	0.89917	0.999;1.0	D;D	0.78314	0.975;0.991	D	0.89619	0.3847	10	0.66056	D	0.02	.	12.0988	0.53772	0.0882:0.0:0.9118:0.0	.	62;62	E9PC70;P27701	.;CD82_HUMAN	M	103;62;62;62;126;62;62;43	ENSP00000435682:V103M;ENSP00000227155:V62M;ENSP00000339686:V62M;ENSP00000431767:V62M;ENSP00000433151:V126M;ENSP00000436403:V62M;ENSP00000433804:V62M;ENSP00000433788:V43M	ENSP00000227155:V62M	V	+	1	0	CD82	44583231	1.000000	0.71417	0.860000	0.33809	0.865000	0.49528	4.941000	0.63540	2.132000	0.65825	0.561000	0.74099	GTG		0.597	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			A	44626655	G	A	44626655	3	1	146	1	0	0	0	0	1	0	0	0	3040	1145	40	1	194	1	CD82	11	44626655	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08	33805440	44626655	90379861	17	8060											
OR5D13	390142	broad.mit.edu	37	11	55540921	55540921	+	Missense_Mutation	SNP	C	C	A	rs577141873		TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr11:55540921C>A	ENST00000361760.1	+	1	8	c.8C>A	c.(7-9)gCa>gAa	p.A3E		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A3E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATCATGATGGCATCTGAAAGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	11											83	85	85					11																	55540921		2200	4296	6496	55297497	SO:0001583	missense	390142			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.8C>A	11.37:g.55540921C>A	ENSP00000354800:p.Ala3Glu		55297497	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	3.459	-0.110389	0.06924	.	.	ENSG00000198877	ENST00000361760	T	0.00630	6.1	3.15	-4.76	0.03229	.	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.47222	-0.9134	9	0.62326	D	0.03	0.3227	1.0174	0.01510	0.2411:0.3652:0.1522:0.2415	.	3	Q8NGL4	OR5DD_HUMAN	E	3	ENSP00000354800:A3E	ENSP00000354800:A3E	A	+	2	0	OR5D13	55297497	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.335000	0.02662	-0.360000	0.08138	-0.482000	0.04802	GCA		0.373	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		A	55540921	C	A	55540921	3	1	146	1	0	0	0	0	1	0	0	0	11154	710	25	3	10	3	OR5D13	11	55540921	Missense_Mutation	SNP	C	TCGA-13-1505-01A-01D-0472-08	10914266	55540921	79465595	18	8061											
OR5M11	219487	broad.mit.edu	37	11	56310489	56310489	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr11:56310489G>A	ENST00000528616.2	-	1	268	c.245C>T	c.(244-246)tCg>tTg	p.S82L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GATATTAGTCGACATCTGCGG	0.443																																																0			11											115	115	115					11																	56310489		2165	4269	6434	56067065	SO:0001583	missense	219487			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.245C>T	11.37:g.56310489G>A	ENSP00000432417:p.Ser82Leu		56067065	B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	0.103	-1.148653	0.01714	.	.	ENSG00000255223	ENST00000528616	T	0.00433	7.43	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.00002	-3.505	0.19575	N	0.999966	B	0.02656	0.0	B	0.01281	0.0	T	0.36286	-0.9754	9	0.02654	T	1	.	10.1261	0.42649	0.9206:0.0:0.0794:0.0	.	82	Q96RB7	OR5MB_HUMAN	L	82	ENSP00000432417:S82L	ENSP00000432417:S82L	S	-	2	0	OR5M11	56067065	0.548000	0.26473	0.018000	0.16275	0.028000	0.11728	5.565000	0.67365	0.991000	0.38814	-0.285000	0.09966	TCG		0.443	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		A	56310489	G	A	56310489	3	1	146	1	0	0	0	0	1	0	0	0	11174	1059	37	1	675	1	OR5M11	11	56310489	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08	769568	56310489	78696027	19	8062											
SFRS2B	10929	broad.mit.edu	37	11	94801044	94801044	+	RNA	SNP	C	C	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr11:94801044C>T	ENST00000529911.1	+	0	684					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CACTAGCTCTCGCTCTGCATC	0.572																																																0			11											96	105	102					11																	94801044		2169	4285	6454	94440692			10929			AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"Serine/arginine-rich splicing factors"	16988	protein-coding gene	gene with protein product	"SR splicing factor 8"	603269	"splicing factor, arginine/serine-rich 2B"	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94801044C>T			94440692	B2R6B8|Q6PF01|Q96TA3	Silent	SNP	ENST00000529911.1	37																																																																																					0.572	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000390962.3	NM_032102		T	94801044	C	T	94801044	1	4	146	0	1	0	0	0	0	0	0	0	14179	871	31	1		1	SFRS2B	11	94801044	RNA	SNP	C	TCGA-13-1505-01A-01D-0472-08	38490555	94801044	40205472	20	8063											
CEP164	22897	broad.mit.edu	37	11	117282856	117282856	+	Missense_Mutation	SNP	A	A	C	rs370039438		TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr11:117282856A>C	ENST00000278935.3	+	33	4502	c.4355A>C	c.(4354-4356)cAc>cCc	p.H1452P	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1452					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.H1452P(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTTGATGAGCACAACAGAGTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	11											84	73	77					11																	117282856		2201	4296	6497	116788066	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4355A>C	11.37:g.117282856A>C	ENSP00000278935:p.His1452Pro		116788066	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002203	0.35320	.	.	ENSG00000110274	ENST00000278935	T	0.57595	0.39	5.24	1.35	0.21983	.	1.167540	0.06178	N	0.678987	T	0.43897	0.1268	L	0.36672	1.1	0.23653	N	0.9972	B;B	0.24882	0.113;0.113	B;B	0.28638	0.092;0.092	T	0.42310	-0.9459	10	0.56958	D	0.05	-1.8245	6.2661	0.20928	0.6132:0.3063:0.0805:0.0	.	1452;1447	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	P	1452	ENSP00000278935:H1452P	ENSP00000278935:H1452P	H	+	2	0	CEP164	116788066	0.987000	0.35691	0.340000	0.25575	0.014000	0.08584	2.662000	0.46766	0.302000	0.22762	-0.250000	0.11733	CAC		0.592	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		C	117282856	A	C	117282856	3	2	146	1	0	0	0	0	1	0	0	0	3249	159	6	5	4477	5	CEP164	11	117282856	Missense_Mutation	SNP	A	TCGA-13-1505-01A-01D-0472-08	22481812	117282856	17723660	21	8064											
EI24	9538	broad.mit.edu	37	11	125447464	125447464	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr11:125447464T>C	ENST00000278903.6	+	5	556	c.314T>C	c.(313-315)aTc>aCc	p.I105T	EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Missense_Mutation_p.I105T|RNU6-1156P_ENST00000410365.1_RNA|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	105					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I105T(1)		large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GCCCGAATTATCGGTAAGTGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	11											284	239	253					11																	125447464		1917	4122	6039	124952674	SO:0001583	missense	9538			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.314T>C	11.37:g.125447464T>C	ENSP00000278903:p.Ile105Thr		124952674	A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37		.	.	.	.	.	.	.	.	.	.	T	21.7	4.182918	0.78677	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000524723;ENST00000527842;ENST00000527520;ENST00000527131	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.991;0.999	D;D;D;D	0.85130	0.997;0.997;0.991;0.997	T	0.65450	-0.6165	9	0.23302	T	0.38	.	15.481	0.75528	0.0:0.0:0.0:1.0	.	91;105;105;105	B4DKL6;E9PM05;A6NES3;O14681	.;.;.;EI24_HUMAN	T	105;105;148;105;91;105	.	ENSP00000278903:I105T	I	+	2	0	EI24	124952674	1.000000	0.71417	0.996000	0.52242	0.654000	0.38779	7.244000	0.78228	2.147000	0.66899	0.533000	0.62120	ATC		0.433	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		C	125447464	T	C	125447464	3	2	146	1	0	0	0	0	1	0	0	0	4985	1435	50	4	328	4	EI24	11	125447464	Missense_Mutation	SNP	T	TCGA-13-1505-01A-01D-0472-08	8164608	125447464	9559052	22	8065											
FAM90A1	55138	broad.mit.edu	37	12	8377408	8377408	+	Silent	SNP	G	G	C			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr12:8377408G>C	ENST00000538603.1	-	4	579	c.21C>G	c.(19-21)ccC>ccG	p.P7P	FAM90A1_ENST00000307435.6_Silent_p.P7P	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	7							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P7P(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCCCAGGTTTGGGGTCACGAC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	12											47	53	51					12																	8377408		2203	4299	6502	8268675	SO:0001819	synonymous_variant	55138			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.21C>G	12.37:g.8377408G>C			8268675	D3DUU9|Q9NVZ6	Silent	SNP	ENST00000538603.1	37	CCDS31738.1																																																																																				0.582	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		C	8377408	G	C	8377408	2	2	146	1	0	0	0	0	0	0	0	1	5650	1335	47	3		3	FAM90A1	12	8377408	Silent	SNP	G	TCGA-13-1505-01A-01D-0472-08		8377408	125474487	23	8066											
TPH2	121278	broad.mit.edu	37	12	72388224	72388224	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr12:72388224C>G	ENST00000333850.3	+	8	1088	c.947C>G	c.(946-948)aCa>aGa	p.T316R		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	316					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.T316R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTCAGAGACACATGCCATGAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	12											149	145	147					12																	72388224		2203	4300	6503	70674491	SO:0001583	missense	121278			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.947C>G	12.37:g.72388224C>G	ENSP00000329093:p.Thr316Arg		70674491	A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623103	0.87460	.	.	ENSG00000139287	ENST00000333850	D	0.99527	-6.09	5.91	5.91	0.95273	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	P	0.62813	0.907	D	0.99357	1.0916	10	0.87932	D	0	-8.5326	20.2985	0.98592	0.0:1.0:0.0:0.0	.	316	Q8IWU9	TPH2_HUMAN	R	316	ENSP00000329093:T316R	ENSP00000329093:T316R	T	+	2	0	TPH2	70674491	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	ACA		0.398	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		G	72388224	C	G	72388224	3	3	146	1	0	0	0	0	1	0	0	0	16402	478	17	3	977	3	TPH2	12	72388224	Missense_Mutation	SNP	C	TCGA-13-1505-01A-01D-0472-08	64010816	72388224	61463671	24	8067											
SLC17A8	246213	broad.mit.edu	37	12	100796167	100796167	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr12:100796167G>T	ENST00000323346.5	+	7	1126	c.813G>T	c.(811-813)gaG>gaT	p.E271D	SLC17A8_ENST00000392989.3_Missense_Mutation_p.E271D|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	271					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.E271D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGGCCTATGAGTGCCCAGCAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											97	93	94					12																	100796167		2203	4300	6503	99320298	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.813G>T	12.37:g.100796167G>T	ENSP00000316909:p.Glu271Asp		99320298	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643144	0.47153	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.63744	-0.06;-0.06	5.67	2.85	0.33270	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169866	0.52532	D	0.000064	T	0.43010	0.1228	N	0.16368	0.405	0.47584	D	0.999461	B;B	0.31413	0.02;0.322	B;B	0.33568	0.068;0.166	T	0.14839	-1.0458	10	0.15499	T	0.54	.	11.3359	0.49503	0.1998:0.0:0.8002:0.0	.	271;271	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	D	271	ENSP00000316909:E271D;ENSP00000376715:E271D	ENSP00000316909:E271D	E	+	3	2	SLC17A8	99320298	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	1.279000	0.33191	0.758000	0.33059	0.557000	0.71058	GAG		0.428	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		T	100796167	G	T	100796167	3	4	146	1	0	0	0	0	1	0	0	0	14426	1020	36	3	839	3	SLC17A8	12	100796167	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08	28407943	100796167	33055728	25	8068											
RSRC2	65117	broad.mit.edu	37	12	123006786	123006786	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr12:123006786T>A	ENST00000331738.7	-	2	212	c.67A>T	c.(67-69)Aaa>Taa	p.K23*	RSRC2_ENST00000354654.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	23							poly(A) RNA binding (GO:0044822)	p.K23*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TGCTCTTTTTTCTTATCTCTA	0.353																																																1	Substitution - Nonsense(1)	ovary(1)	12											156	144	148					12																	123006786		2203	4300	6503	121572739	SO:0001587	stop_gained	65117			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.67A>T	12.37:g.123006786T>A	ENSP00000330188:p.Lys23*		121572739	Q6N040|Q6NW16|Q9H864	Nonsense_Mutation	SNP	ENST00000331738.7	37	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	T	37	6.038897	0.97226	.	.	ENSG00000111011	ENST00000331738;ENST00000418773	.	.	.	5.35	5.35	0.76521	.	0.092524	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.603	0.51015	0.0:0.0:0.1488:0.8512	.	.	.	.	X	23	.	ENSP00000330188:K23X	K	-	1	0	RSRC2	121572739	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.644000	0.54381	2.160000	0.67779	0.528000	0.53228	AAA		0.353	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		A	123006786	T	A	123006786	4	1	146	1	0	0	0	0	0	1	0	0	13718	1792	62	5	1307	5	RSRC2	12	123006786	Nonsense_Mutation	SNP	T	TCGA-13-1505-01A-01D-0472-08	22210619	123006786	10845109	26	8069											
FREM2	341640	broad.mit.edu	37	13	39262686	39262686	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr13:39262686C>T	ENST00000280481.7	+	1	1421	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	402					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S402F(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTGAAGACTCTGACCAGGAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	13											65	71	69					13																	39262686		2203	4300	6503	38160686	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1205C>T	13.37:g.39262686C>T	ENSP00000280481:p.Ser402Phe		38160686	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748855	0.49257	.	.	ENSG00000150893	ENST00000280481	T	0.21031	2.03	5.94	5.94	0.96194	.	0.062581	0.64402	D	0.000003	T	0.51398	0.1672	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.42068	-0.9473	10	0.41790	T	0.15	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	402	Q5SZK8	FREM2_HUMAN	F	402	ENSP00000280481:S402F	ENSP00000280481:S402F	S	+	2	0	FREM2	38160686	1.000000	0.71417	0.940000	0.37924	0.156000	0.22039	7.780000	0.85658	2.826000	0.97356	0.561000	0.74099	TCT		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39262686	C	T	39262686	3	4	146	1	0	0	0	0	1	0	0	0	6045	913	32	2	1207	2	FREM2	13	39262686	Missense_Mutation	SNP	C	TCGA-13-1505-01A-01D-0472-08		39262686	75907192	27	8070											
C14orf73	91828	broad.mit.edu	37	14	103574825	103574825	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr14:103574825G>C	ENST00000380069.3	+	10	2023	c.1947G>C	c.(1945-1947)gaG>gaC	p.E649D		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	649					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.E649D(1)		cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGCACCTGGAGACTCTTATCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	14											194	170	178					14																	103574825		2203	4300	6503	102644578	SO:0001583	missense	91828			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1947G>C	14.37:g.103574825G>C	ENSP00000369409:p.Glu649Asp		102644578	Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505991	0.44558	.	.	ENSG00000205436	ENST00000380069	T	0.07800	3.16	4.14	0.135	0.14775	.	0.415608	0.23189	N	0.050937	T	0.12433	0.0302	M	0.65975	2.015	0.09310	N	1	P	0.47484	0.896	P	0.50754	0.649	T	0.09164	-1.0687	10	0.56958	D	0.05	-8.2095	3.0055	0.06027	0.3781:0.2284:0.3935:0.0	.	649	Q17RC7	EX3L4_HUMAN	D	649	ENSP00000369409:E649D	ENSP00000369409:E649D	E	+	3	2	EXOC3L4	102644578	0.988000	0.35896	0.221000	0.23827	0.618000	0.37518	1.513000	0.35823	0.157000	0.19338	0.462000	0.41574	GAG		0.587	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		C	103574825	G	C	103574825	3	2	146	1	0	0	0	0	1	0	0	0	1779	933	33	3	1985	3	C14orf73	14	103574825	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08		103574825	3774715	28	8071											
KLHL25	64410	broad.mit.edu	37	15	86312927	86312927	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr15:86312927G>A	ENST00000337975.5	-	2	389	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	KLHL25_ENST00000536947.1_Missense_Mutation_p.L39F|MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	39					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.L39F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGCTTGCGAAGCGTGTTGAGG	0.642																																																1	Substitution - Missense(1)	ovary(1)	15											74	71	72					15																	86312927		2202	4299	6501	84113931	SO:0001583	missense	64410				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.115C>T	15.37:g.86312927G>A	ENSP00000336800:p.Leu39Phe		84113931	B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610833	0.46527	.	.	ENSG00000183655	ENST00000337975;ENST00000536947	T;T	0.74209	-0.82;-0.82	4.85	3.93	0.45458	BTB/POZ (1);BTB/POZ fold (2);	0.167364	0.40818	N	0.001015	T	0.72653	0.3487	L	0.58583	1.82	0.42362	D	0.992416	P	0.39352	0.669	P	0.46320	0.512	T	0.69371	-0.5163	10	0.35671	T	0.21	.	7.2402	0.26092	0.0863:0.0:0.7459:0.1678	.	39	Q9H0H3	ENC2_HUMAN	F	39	ENSP00000336800:L39F;ENSP00000444739:L39F	ENSP00000336800:L39F	L	-	1	0	KLHL25	84113931	1.000000	0.71417	0.963000	0.40424	0.786000	0.44442	3.297000	0.51810	1.047000	0.40274	0.462000	0.41574	CTT		0.642	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		A	86312927	G	A	86312927	3	1	146	1	0	0	0	0	1	0	0	0	8380	971	34	2	1658	2	KLHL25	15	86312927	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08		86312927	16218465	29	8072											
ATP2A1	487	broad.mit.edu	37	16	28909649	28909649	+	Silent	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr16:28909649G>A	ENST00000357084.3	+	14	1908	c.1641G>A	c.(1639-1641)gcG>gcA	p.A547A	ATP2A1_ENST00000536376.1_Silent_p.A422A|ATP2A1_ENST00000395503.4_Silent_p.A547A	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	547					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.A547A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGATCATGGCGGTGATCAAGG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	16											55	61	59					16																	28909649		2197	4300	6497	28817150	SO:0001819	synonymous_variant	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1641G>A	16.37:g.28909649G>A			28817150	A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	CCDS10643.1																																																																																				0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		A	28909649	G	A	28909649	2	1	146	1	0	0	0	0	0	0	0	1	1136	1103	39	1		1	ATP2A1	16	28909649	Silent	SNP	G	TCGA-13-1505-01A-01D-0472-08		28909649	61445104	30	8073											
PARD6A	50855	broad.mit.edu	37	16	67696293	67696293	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr16:67696293C>T	ENST00000219255.3	+	3	864	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000458121.2_Missense_Mutation_p.R261C|PARD6A_ENST00000602551.1_Missense_Mutation_p.R232C|ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	262					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)	p.R262C(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCATCTGGGCGTTTGACAGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											100	80	87					16																	67696293		2198	4300	6498	66253794	SO:0001583	missense	50855				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"par-6 (partitioning defective 6, C.elegans) homolog alpha", "par-6 partitioning defective 6 homolog alpha (C. elegans)"			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.784C>T	16.37:g.67696293C>T	ENSP00000219255:p.Arg262Cys		66253794	O14911|Q9NPJ7	Missense_Mutation	SNP	ENST00000219255.3	37	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147687	0.57151	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.40225	1.05;1.04	5.01	5.01	0.66863	.	0.398167	0.25566	N	0.029791	T	0.50103	0.1596	L	0.43923	1.385	0.54753	D	0.999982	D;D	0.76494	0.996;0.999	P;P	0.59221	0.719;0.854	T	0.50775	-0.8788	10	0.62326	D	0.03	-6.6792	11.4889	0.50369	0.305:0.695:0.0:0.0	.	262;261	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	C	261;262	ENSP00000392388:R261C;ENSP00000219255:R262C	ENSP00000219255:R262C	R	+	1	0	PARD6A	66253794	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.051000	0.41307	2.311000	0.77944	0.563000	0.77884	CGT		0.587	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948		T	67696293	C	T	67696293	3	4	146	1	0	0	0	0	1	0	0	0	11445	768	27	1	794	1	PARD6A	16	67696293	Missense_Mutation	SNP	C	TCGA-13-1505-01A-01D-0472-08	38786644	67696293	22658460	31	8074											
RILP	8578	broad.mit.edu	37	17	1549751	1549751	+	5'Flank	SNP	G	G	A	rs368151611		TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr17:1549751G>A	ENST00000263071.4	-	0	0				SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_5'Flank|SCARF1_ENST00000348987.3_5'Flank|RILP_ENST00000301336.6_Silent_p.A397A	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.A397A(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTCTGGGGCGGCTGAGGCCC	0.647																																																1	Substitution - coding silent(1)	ovary(1)	17											68	69	68					17																	1549751		2203	4300	6503	1496501	SO:0001631	upstream_gene_variant	83547			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1549751G>A	Exception_encountered		1496501	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	CCDS11007.1																																																																																				0.647	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		A	1549751	G	A	1549751	1	1	146	0	1	0	0	0	0	0	0	0	13363	1103	39	1		1	RILP	17	1549751	5'Flank	SNP	G	TCGA-13-1505-01A-01D-0472-08		1549751	79645459	32	8075											
PLD2	5338	broad.mit.edu	37	17	4720262	4720263	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	TG	TG	-	-	TG	TG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr17:4720262_4720263delTG	ENST00000263088.6	+	16	1744_1745	c.1613_1614delTG	c.(1612-1614)atgfs	p.M538fs	PLD2_ENST00000572940.1_Frame_Shift_Del_p.M538fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	538	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.M538fs*102(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACCCCTCGGATGCCATGGCGGG	0.624																																																1	Deletion - Frameshift(1)	ovary(1)	17																																								4667229	SO:0001589	frameshift_variant	5338			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1613_1614delTG	17.37:g.4720262_4720263delTG	ENSP00000263088:p.Met538fs		4667228	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Frame_Shift_Del	DEL	ENST00000263088.6	37	CCDS11057.1																																																																																				0.624	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		-	4720263	TG	-	4720262	7	5	146	1	0	1	0	1	0	0	0	0	12046	1464	51	0	1671	0	PLD2	17	4720262	Frame_Shift_Del	DEL	TG	TCGA-13-1505-01A-01D-0472-08	3170511	4720262	76474948	33	8076											
C1QBP	708	broad.mit.edu	37	17	5341451	5341451	+	Silent	SNP	G	G	C	rs565317994		TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr17:5341451G>C	ENST00000225698.4	-	2	456	c.375C>G	c.(373-375)gcC>gcG	p.A125A	C1QBP_ENST00000574444.1_Silent_p.A21A	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	125					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A125A(1)		lung(2)|ovary(1)	3					Hyaluronan(DB08818)	ACTTTTCCCCGGCAACTTTCC	0.507																																																1	Substitution - coding silent(1)	ovary(1)	17											119	120	119					17																	5341451		2203	4300	6503	5282175	SO:0001819	synonymous_variant	708			X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein"	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.375C>G	17.37:g.5341451G>C			5282175	Q2HXR8|Q9NNY8	Silent	SNP	ENST00000225698.4	37	CCDS11071.1																																																																																				0.507	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		C	5341451	G	C	5341451	2	2	146	1	0	0	0	0	0	0	0	1	1956	1103	39	3		3	C1QBP	17	5341451	Silent	SNP	G	TCGA-13-1505-01A-01D-0472-08	621189	5341451	75853759	34	8077											
TP53	7157	broad.mit.edu	37	17	7579462	7579462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	A	A	-	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr17:7579462delA	ENST00000269305.4	-	4	414	c.225delT	c.(223-225)cctfs	p.P75fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.P75fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P75fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P75fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P75fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P75fs	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	75	Interaction with HRMT1L2.|Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.A76fs*47(1)|p.A76fs*73(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.A74fs*71(1)|p.A74fs*47(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)	CTGCTGGTGCAGGGGCCACGG	0.607		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"	21	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(1)|Insertion - Frameshift(1)	bone(5)|upper_aerodigestive_tract(3)|central_nervous_system(3)|breast(3)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(1)|liver(1)	17											73	81	78					17																	7579462		2202	4299	6501	7520187	SO:0001589	frameshift_variant	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.225delT	17.37:g.7579462delA	ENSP00000269305:p.Pro75fs		7520187	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579462	A	-	7579462	7	5	146	1	0	1	0	1	0	0	0	0	16381	175	7	0	1077	0	TP53	17	7579462	Frame_Shift_Del	DEL	A	TCGA-13-1505-01A-01D-0472-08	2238011	7579462	73615748	35	8078											
RNF112	7732	broad.mit.edu	37	17	19318109	19318109	+	Silent	SNP	G	G	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr17:19318109G>T	ENST00000461366.1	+	10	1250	c.1035G>T	c.(1033-1035)gtG>gtT	p.V345V	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	345	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.V345V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						ACCCCAAGGTGCAGGAGCTGC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	17											37	46	43					17																	19318109		2151	4258	6409	19258701	SO:0001819	synonymous_variant	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1035G>T	17.37:g.19318109G>T			19258701	O60633|Q7Z5V9	Silent	SNP	ENST00000461366.1	37	CCDS58529.1																																																																																				0.632	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		T	19318109	G	T	19318109	2	4	146	1	0	0	0	0	0	0	0	1	13429	1306	46	3		3	RNF112	17	19318109	Silent	SNP	G	TCGA-13-1505-01A-01D-0472-08	11738647	19318109	61877101	36	8079											
GAS2L2	246176	broad.mit.edu	37	17	34076160	34076160	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr17:34076160A>T	ENST00000254466.6	-	3	731	c.704T>A	c.(703-705)gTg>gAg	p.V235E	GAS2L2_ENST00000587565.1_Missense_Mutation_p.V219E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	235	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.V235E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGTCACCCACACGGTACTT	0.592																																																1	Substitution - Missense(1)	ovary(1)	17											71	61	64					17																	34076160		2203	4300	6503	31100273	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.704T>A	17.37:g.34076160A>T	ENSP00000254466:p.Val235Glu		31100273	Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485458	0.84854	.	.	ENSG00000132139	ENST00000254466	T	0.24538	1.85	5.21	5.21	0.72293	Growth-arrest-specific protein 2 domain (4);	0.000000	0.64402	D	0.000001	T	0.52354	0.1729	M	0.78801	2.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.57676	-0.7770	10	0.87932	D	0	-23.3553	14.4193	0.67173	1.0:0.0:0.0:0.0	.	235	Q8NHY3	GA2L2_HUMAN	E	235	ENSP00000254466:V235E	ENSP00000254466:V235E	V	-	2	0	GAS2L2	31100273	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	9.025000	0.93694	2.193000	0.70182	0.402000	0.26972	GTG		0.592	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		T	34076160	A	T	34076160	3	4	146	1	0	0	0	0	1	0	0	0	6247	159	6	5	1954	5	GAS2L2	17	34076160	Missense_Mutation	SNP	A	TCGA-13-1505-01A-01D-0472-08	14758051	34076160	47119050	37	8080											
PLEKHH3	79990	broad.mit.edu	37	17	40826400	40826400	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr17:40826400G>C	ENST00000591022.1	-	2	577	c.190C>G	c.(190-192)Cca>Gca	p.P64A	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.P64A|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.P64A	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	64					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)		p.P64A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTCCTCACTGGCTGAGTCAGC	0.652																																																1	Substitution - Missense(1)	ovary(1)	17											68	60	63					17																	40826400		2203	4300	6503	38079926	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.190C>G	17.37:g.40826400G>C	ENSP00000468678:p.Pro64Ala		38079926	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343800	0.24339	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	T;T	0.32753	1.44;1.44	4.49	3.49	0.39957	.	0.345913	0.21021	N	0.081502	T	0.16811	0.0404	N	0.22421	0.69	0.28061	N	0.932957	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.001	T	0.23940	-1.0174	10	0.02654	T	1	-16.3888	11.3786	0.49743	0.0:0.1838:0.8162:0.0	.	64;64	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	A	64	ENSP00000293349:P64A;ENSP00000411885:P64A	ENSP00000293349:P64A	P	-	1	0	PLEKHH3	38079926	1.000000	0.71417	0.924000	0.36721	0.016000	0.09150	2.391000	0.44424	1.053000	0.40415	0.491000	0.48974	CCA		0.652	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		C	40826400	G	C	40826400	3	2	146	1	0	0	0	0	1	0	0	0	12078	1203	42	3	2239	3	PLEKHH3	17	40826400	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08	6750240	40826400	40368810	38	8081											
C17orf70	80233	broad.mit.edu	37	17	79512899	79512899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	A	A	-	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr17:79512899delA	ENST00000327787.8	-	6	2229	c.2183delT	c.(2182-2184)ctgfs	p.L728fs	C17orf70_ENST00000537152.1_Frame_Shift_Del_p.L577fs|C17orf70_ENST00000425898.2_Frame_Shift_Del_p.L377fs			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	728					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L577fs*19(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGCACAGCACAGGGGCACGCC	0.642																																																1	Deletion - Frameshift(1)	ovary(1)	17											42	33	36					17																	79512899		2199	4300	6499	77123352	SO:0001589	frameshift_variant	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2183delT	17.37:g.79512899delA	ENSP00000333283:p.Leu728fs		77123352	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Frame_Shift_Del	DEL	ENST00000327787.8	37	CCDS32765.2																																																																																				0.642	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		-	79512899	A	-	79512899	7	5	146	1	0	1	0	1	0	0	0	0	1877	188	7	0	478	0	C17orf70	17	79512899	Frame_Shift_Del	DEL	A	TCGA-13-1505-01A-01D-0472-08	38686499	79512899	1682311	39	8082											
MC2R	4158	broad.mit.edu	37	18	13885322	13885322	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr18:13885322A>T	ENST00000327606.3	-	2	376	c.196T>A	c.(196-198)Ttg>Atg	p.L66M		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	66					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.L66M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GATATGGCCAAGCTACAGATG	0.423																																					Colon(141;1584 1782 35999 48227 48692)											1	Substitution - Missense(1)	ovary(1)	18											79	78	78					18																	13885322		2203	4300	6503	13875322	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.196T>A	18.37:g.13885322A>T	ENSP00000333821:p.Leu66Met		13875322	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935794	0.52972	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	D;D	0.91124	-2.79;-2.79	4.13	-2.92	0.05615	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	D	0.94922	0.8358	M	0.92923	3.36	0.38384	D	0.945212	D	0.89917	1.0	D	0.97110	1.0	D	0.93023	0.6442	10	0.87932	D	0	.	9.5495	0.39301	0.6134:0.0:0.3866:0.0	.	66	Q01718	ACTHR_HUMAN	M	66	ENSP00000333821:L66M;ENSP00000382718:L66M	ENSP00000333821:L66M	L	-	1	2	MC2R	13875322	0.997000	0.39634	0.927000	0.36925	0.687000	0.40016	0.949000	0.29109	-0.811000	0.04369	0.528000	0.53228	TTG		0.423	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			T	13885322	A	T	13885322	3	4	146	1	0	0	0	0	1	0	0	0	9364	69	3	5	701	5	MC2R	18	13885322	Missense_Mutation	SNP	A	TCGA-13-1505-01A-01D-0472-08		13885322	64191926	40	8083											
MYADM	91663	broad.mit.edu	37	19	54377273	54377273	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr19:54377273G>A	ENST00000391769.2	+	3	770	c.490G>A	c.(490-492)Gag>Aag	p.E164K	MYADM_ENST00000391768.2_Missense_Mutation_p.E164K|MYADM_ENST00000336967.3_Missense_Mutation_p.E164K|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391770.4_Missense_Mutation_p.E164K|MYADM_ENST00000391771.1_Missense_Mutation_p.E164K	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	164					establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.E164K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CCGGCCCGGCGAGATCACTGG	0.652																																																1	Substitution - Missense(1)	ovary(1)	19											50	50	50					19																	54377273		2203	4300	6503	59069085	SO:0001583	missense	91663			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.490G>A	19.37:g.54377273G>A	ENSP00000375649:p.Glu164Lys		59069085	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630838	0.46944	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	.	.	.	4.0	4.0	0.46444	.	0.066592	0.56097	D	0.000026	T	0.62356	0.2421	M	0.79926	2.475	0.58432	D	0.999994	B	0.25312	0.123	B	0.15484	0.013	T	0.64136	-0.6478	9	0.36615	T	0.2	-13.5126	14.0001	0.64429	0.0:0.0:1.0:0.0	.	164	Q96S97	MYADM_HUMAN	K	164;164;164;164;164;164;127;164;164	.	ENSP00000337222:E164K	E	+	1	0	MYADM	59069085	1.000000	0.71417	0.226000	0.23910	0.665000	0.39181	4.705000	0.61838	1.967000	0.57214	0.313000	0.20887	GAG		0.652	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		A	54377273	G	A	54377273	3	1	146	1	0	0	0	0	1	0	0	0	10006	1059	37	1	492	1	MYADM	19	54377273	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08		54377273	4751710	41	8084											
PTPRH	5794	broad.mit.edu	37	19	55711817	55711817	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr19:55711817C>A	ENST00000376350.3	-	7	1229	c.1207G>T	c.(1207-1209)Gcc>Tcc	p.A403S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.A225S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	403	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A403S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGCATAGGGCGATGGAGCTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											121	107	112					19																	55711817		2203	4300	6503	60403629	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1207G>T	19.37:g.55711817C>A	ENSP00000365528:p.Ala403Ser		60403629	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.477119	0.01035	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.55413	0.52;0.52	3.71	1.49	0.22878	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.150880	0.06831	N	0.794034	T	0.22085	0.0532	N	0.03948	-0.315	0.20074	N	0.999937	B;B;B	0.29590	0.25;0.211;0.062	B;B;B	0.26094	0.066;0.039;0.055	T	0.18967	-1.0320	10	0.06365	T	0.9	.	3.1955	0.06631	0.2042:0.1265:0.0:0.6693	.	225;225;403	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	S	403;225	ENSP00000365528:A403S;ENSP00000263434:A225S	ENSP00000263434:A225S	A	-	1	0	PTPRH	60403629	0.492000	0.26027	0.832000	0.32986	0.065000	0.16274	0.235000	0.17948	0.115000	0.18071	-1.226000	0.01582	GCC		0.537	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			A	55711817	C	A	55711817	3	1	146	1	0	0	0	0	1	0	0	0	12806	768	27	3	2196	3	PTPRH	19	55711817	Missense_Mutation	SNP	C	TCGA-13-1505-01A-01D-0472-08	1334544	55711817	3417166	42	8085											
GSTT1	2952	broad.mit.edu	37	22	24376834	24376834	+	Silent	SNP	C	C	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chr22:24376834C>T	ENST00000248935.5	-	4	568	c.516G>A	c.(514-516)acG>acA	p.T172T	KB-226F1.1_ENST00000608619.1_RNA|GSTT1_ENST00000439996.2_Silent_p.T54T	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		172	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.T172T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	GCATCAGCTCCGTGATGGCTA	0.572									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																																							1	Substitution - coding silent(1)	ovary(1)	22											85	58	67					22																	24376834		1706	3603	5309	22706834	SO:0001819	synonymous_variant	2952	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																												ENST00000248935.5:c.516G>A	22.37:g.24376834C>T			22706834	O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	CCDS13822.1																																																																																				0.572	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			T	24376834	C	T	24376834	2	4	146	1	0	0	0	0	0	0	0	1	6845	639	23	1		1	GSTT1	22	24376834	Silent	SNP	C	TCGA-13-1505-01A-01D-0472-08		24376834	26927732	43	8086											
ZNF41	7592	broad.mit.edu	37	X	47307087	47307087	+	Silent	SNP	A	A	G	rs147527536		TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chrX:47307087A>G	ENST00000377065.4	-	5	2721	c.2082T>C	c.(2080-2082)ggT>ggC	p.G694G	ZNF41_ENST00000313116.7_Silent_p.G694G|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Silent_p.G704G	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	736					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.G694G(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TCCCGCAGTCACCACATTCAT	0.428																																																1	Substitution - coding silent(1)	ovary(1)	X						A	,	0,3835		0,0,1632,571	108	97	101		2082,2082	3.7	1	X	dbSNP_134	101	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	ZNF41	NM_007130.2,NM_153380.2	,	0,1,4059,2443	GG,GA,AA,A		0.0149,0.0,0.0095	,	694/780,694/780	47307087	1,10562	2203	4300	6503	47192031	SO:0001819	synonymous_variant	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.2082T>C	X.37:g.47307087A>G			47192031	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	CCDS14279.1																																																																																				0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		G	47307087	A	G	47307087	2	3	146	1	0	0	0	0	0	0	0	1	17889	146	6	4		4	ZNF41	23	47307087	Silent	SNP	A	TCGA-13-1505-01A-01D-0472-08		47307087	107963473	44	8087											
ARMCX2	9823	broad.mit.edu	37	X	100911587	100911587	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chrX:100911587C>T	ENST00000328766.5	-	5	1441	c.988G>A	c.(988-990)Gct>Act	p.A330T	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A330T|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A330T	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	330						integral component of membrane (GO:0016021)		p.A330T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GCCAGGAAAGCCTGTCCGCCA	0.592																																																1	Substitution - Missense(1)	ovary(1)	X											59	65	63					X																	100911587		2203	4300	6503	100798243	SO:0001583	missense	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.988G>A	X.37:g.100911587C>T	ENSP00000331662:p.Ala330Thr		100798243	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899650	0.52227	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.37235	1.21;1.21;1.21	3.66	3.66	0.41972	.	0.402017	0.22417	N	0.060330	T	0.26340	0.0643	N	0.19112	0.55	0.30208	N	0.797963	D	0.58268	0.982	P	0.49853	0.624	T	0.03017	-1.1082	10	0.10111	T	0.7	-10.7028	9.8985	0.41334	0.0:1.0:0.0:0.0	.	330	Q7L311	ARMX2_HUMAN	T	330	ENSP00000331662:A330T;ENSP00000328631:A330T;ENSP00000349281:A330T	ENSP00000331662:A330T	A	-	1	0	ARMCX2	100798243	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	3.808000	0.55598	2.086000	0.62901	0.422000	0.28245	GCT		0.592	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		T	100911587	C	T	100911587	3	4	146	1	0	0	0	0	1	0	0	0	960	739	26	2	914	2	ARMCX2	23	100911587	Missense_Mutation	SNP	C	TCGA-13-1505-01A-01D-0472-08	53604500	100911587	54358973	45	8088											
UPF3B	65109	broad.mit.edu	37	X	118971920	118971920	+	Missense_Mutation	SNP	G	G	A	rs374676402		TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chrX:118971920G>A	ENST00000276201.2	-	10	1171	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	UPF3B_ENST00000345865.2_Missense_Mutation_p.R355W|UPF3B_ENST00000478840.1_5'Flank	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	368	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R368W(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCTTCTTGCCGCTTCAGCCTC	0.468																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	X						G	TRP/ARG,TRP/ARG	0,3835		0,0,1632,571	149	127	135		1063,1102	5.6	1	X		135	1,6727		0,1,2427,1872	no	missense,missense	UPF3B	NM_023010.3,NM_080632.2	101,101	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	355/471,368/484	118971920	1,10562	2203	4300	6503	118855948	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1102C>T	X.37:g.118971920G>A	ENSP00000276201:p.Arg368Trp		118855948	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493909	0.64186	0.0	1.49E-4	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.79845	-1.24;-1.31	5.59	5.59	0.84812	.	0.215397	0.47852	D	0.000211	D	0.85725	0.5763	M	0.63843	1.955	0.51012	D	0.999902	D;D	0.89917	1.0;0.999	D;P	0.65233	0.933;0.858	D	0.84979	0.0887	10	0.40728	T	0.16	.	10.7285	0.46083	0.0892:0.0:0.9108:0.0	.	355;368	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	W	368;355	ENSP00000276201:R368W;ENSP00000245418:R355W	ENSP00000276201:R368W	R	-	1	2	UPF3B	118855948	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.458000	0.45014	2.360000	0.80028	0.526000	0.51066	CGG		0.468	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			A	118971920	G	A	118971920	3	1	146	1	0	0	0	0	1	0	0	0	17006	1086	38	1	357	1	UPF3B	23	118971920	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08	18060333	118971920	36298640	46	8089											
ELF4	2000	broad.mit.edu	37	X	129203384	129203384	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chrX:129203384G>A	ENST00000308167.5	-	8	1457	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	ELF4_ENST00000335997.7_Missense_Mutation_p.P360S	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.P360S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTCGCAGATGGCTGGAGACCG	0.597			T	ERG	AML																																		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	1	Substitution - Missense(1)	ovary(1)	X											120	114	116					X																	129203384		2203	4300	6503	129031065	SO:0001583	missense	2000			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1078C>T	X.37:g.129203384G>A	ENSP00000311280:p.Pro360Ser		129031065		Missense_Mutation	SNP	ENST00000308167.5	37	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907693	0.17833	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.20881	2.04;2.04	5.49	2.62	0.31277	.	0.436377	0.22869	N	0.054657	T	0.13372	0.0324	L	0.32530	0.975	0.36413	D	0.863822	B	0.12630	0.006	B	0.13407	0.009	T	0.12451	-1.0547	10	0.29301	T	0.29	.	5.699	0.17871	0.1926:0.1595:0.6479:0.0	.	360	Q99607	ELF4_HUMAN	S	360	ENSP00000338608:P360S;ENSP00000311280:P360S	ENSP00000311280:P360S	P	-	1	0	ELF4	129031065	1.000000	0.71417	0.849000	0.33467	0.215000	0.24574	1.798000	0.38814	0.607000	0.29982	-0.204000	0.12730	CCA		0.597	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		A	129203384	G	A	129203384	3	1	146	1	0	0	0	0	1	0	0	0	5056	1203	42	2	921	2	ELF4	23	129203384	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08	10231464	129203384	26067176	47	8090											
FMR1	2332	broad.mit.edu	37	X	147024700	147024700	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chrX:147024700G>A	ENST00000370475.4	+	14	1453	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	FMR1_ENST00000439526.2_Missense_Mutation_p.R419Q|FMR1_ENST00000370470.1_Missense_Mutation_p.R442Q|FMR1_ENST00000370477.1_Missense_Mutation_p.R421Q|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.R421Q|FMR1_ENST00000440235.2_Missense_Mutation_p.R89Q|FMR1_ENST00000492846.1_3'UTR	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	442	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R442Q(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAGTTGCGACAGATTGGA	0.368									Fragile X syndrome																																							1	Substitution - Missense(1)	ovary(1)	X											175	153	160					X																	147024700		2203	4300	6503	146832392	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1325G>A	X.37:g.147024700G>A	ENSP00000359506:p.Arg442Gln		146832392	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425004	0.83667	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34	5.73	5.73	0.89815	.	0.118192	0.56097	D	0.000027	T	0.70404	0.3220	L	0.58810	1.83	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.996;1.0;0.999	D;D;D;D;D	0.91635	0.99;0.999;0.957;0.998;0.993	T	0.71606	-0.4542	10	0.59425	D	0.04	-10.4141	17.7241	0.88360	0.0:0.0:1.0:0.0	.	89;442;337;421;419	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	Q	421;421;442;419;442;89	ENSP00000218200:R421Q;ENSP00000359508:R421Q;ENSP00000359506:R442Q;ENSP00000395923:R419Q;ENSP00000359501:R442Q;ENSP00000413764:R89Q	ENSP00000218200:R421Q	R	+	2	0	FMR1	146832392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.866000	0.92307	2.404000	0.81709	0.600000	0.82982	CGA		0.368	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		A	147024700	G	A	147024700	3	1	146	1	0	0	0	0	1	0	0	0	5960	1058	37	1	1379	1	FMR1	23	147024700	Missense_Mutation	SNP	G	TCGA-13-1505-01A-01D-0472-08	17821316	147024700	8245860	48	8091											
L1CAM	3897	broad.mit.edu	37	X	153130812	153130812	+	Silent	SNP	G	G	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chrX:153130812G>T	ENST00000370060.1	-	21	2880	c.2691C>A	c.(2689-2691)gcC>gcA	p.A897A	L1CAM_ENST00000538883.1_Silent_p.A899A|L1CAM_ENST00000361699.4_Silent_p.A897A|L1CAM_ENST00000370057.3_Silent_p.A897A|L1CAM_ENST00000543994.1_Silent_p.A899A|L1CAM_ENST00000370055.1_Silent_p.A892A|L1CAM_ENST00000361981.3_Silent_p.A892A	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	897	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.A897A(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)					GCCCGTTAAAGGCCTGCACCT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	X											96	82	87					X																	153130812		2203	4300	6503	152784006	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.2691C>A	X.37:g.153130812G>T			152784006	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	CCDS14733.1																																																																																				0.637	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		T	153130812	G	T	153130812	2	4	146	1	0	0	0	0	0	0	0	1	8588	987	35	3		3	L1CAM	23	153130812	Silent	SNP	G	TCGA-13-1505-01A-01D-0472-08	6106112	153130812	2139748	49	8092											
GAB3	139716	broad.mit.edu	37	X	153944597	153944597	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1505-01A-01D-0472-08	TCGA-13-1505-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ada62fb4-7589-417b-b03a-795a2e9d4028	e4033772-e098-4afd-88a9-a85871498cbe	g.chrX:153944597C>T	ENST00000369575.3	-	2	111	c.80G>A	c.(79-81)cGc>cAc	p.R27H	GAB3_ENST00000424127.2_Missense_Mutation_p.R27H|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	27	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				macrophage differentiation (GO:0030225)			p.R27H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGCGCTTGCGCCAGGCCTG	0.542																																																1	Substitution - Missense(1)	ovary(1)	X											31	30	30					X																	153944597		2203	4300	6503	153597791	SO:0001583	missense	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.80G>A	X.37:g.153944597C>T	ENSP00000358588:p.Arg27His		153597791	A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206403	0.79127	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.74106	-0.81;-0.81;-0.81	5.04	5.04	0.67666	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	L	0.53561	1.675	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85050	0.0928	10	0.87932	D	0	3.8438	14.8115	0.70000	0.0:1.0:0.0:0.0	.	27;27;27	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	H	27	ENSP00000358588:R27H;ENSP00000358581:R27H;ENSP00000399588:R27H	ENSP00000358581:R27H	R	-	2	0	GAB3	153597791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.831000	0.55776	2.079000	0.62486	0.529000	0.55759	CGC		0.542	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		T	153944597	C	T	153944597	3	4	146	1	0	0	0	0	1	0	0	0	6150	768	27	1	1719	1	GAB3	23	153944597	Missense_Mutation	SNP	C	TCGA-13-1505-01A-01D-0472-08	813785	153944597	1325963	50	8093											
LHX8	431707	genome.wustl.edu	37	1	75608823	75608823	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr1:75608823C>T	ENST00000294638.5	+	6	1074	c.410C>T	c.(409-411)tCt>tTt	p.S137F	LHX8_ENST00000356261.3_Missense_Mutation_p.S127F	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	137	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S137F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ACTCGCTGCTCTCGATGTGGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											98	93	95					1																	75608823		2203	4299	6502	75381411	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.410C>T	1.37:g.75608823C>T	ENSP00000294638:p.Ser137Phe		75381411	E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820920	0.90873	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.88354	-2.37;-2.37	5.3	5.3	0.74995	Zinc finger, LIM-type (5);	0.101236	0.64402	D	0.000002	D	0.91489	0.7313	L	0.52823	1.66	0.80722	D	1	D	0.61697	0.99	P	0.60541	0.876	D	0.91998	0.5608	10	0.87932	D	0	.	19.3413	0.94342	0.0:1.0:0.0:0.0	.	137	Q68G74	LHX8_HUMAN	F	137;127	ENSP00000294638:S137F;ENSP00000348597:S127F	ENSP00000294638:S137F	S	+	2	0	LHX8	75381411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.660000	0.90430	0.650000	0.86243	TCT		0.443	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		T	75608823	C	T	75608823	3	4	147	1	0	0	0	0	1	0	0	0	8776	913	32	2	428	2	LHX8	1	75608823	Missense_Mutation	SNP	C	TCGA-13-1506-01A-01W-0549-09		75608823	173641798	1	8094											
LRIG2	9860	genome.wustl.edu	37	1	113641326	113641326	+	Splice_Site	SNP	G	G	A			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr1:113641326G>A	ENST00000361127.5	+	9	1289		c.e9-1			NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2						innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CATTTTTGTAGAGACTTAAGA	0.363																																																1	Unknown(1)	ovary(1)	1											88	89	89					1																	113641326		2203	4300	6503	113442849	SO:0001630	splice_region_variant	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1092-1G>A	1.37:g.113641326G>A			113442849	Q9NSN2	Splice_Site	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	19.75	3.885743	0.72410	.	.	ENSG00000198799	ENST00000361127	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1809	0.93623	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRIG2	113442849	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.395000	0.97266	2.608000	0.88229	0.596000	0.82720	.		0.363	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813	Intron	A	113641326	G	A	113641326	5	1	147	1	0	0	0	0	0	0	1	0	8945	956	33	2	1125	2	LRIG2	1	113641326	Splice_Site	SNP	G	TCGA-13-1506-01A-01W-0549-09	38032503	113641326	135609295	2	8095											
BCL2L15	440603	genome.wustl.edu	37	1	114429215	114429215	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr1:114429215T>G	ENST00000393316.3	-	2	364	c.193A>C	c.(193-195)Aac>Cac	p.N65H	BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000471267.1_Missense_Mutation_p.N65H|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	65					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.N65H(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTCTCCGTTGAACTGGTCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											129	111	117					1																	114429215		2203	4300	6503	114230738	SO:0001583	missense	440603				CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 178"	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.193A>C	1.37:g.114429215T>G	ENSP00000376992:p.Asn65His		114230738	A0PJY6|A8K074|I6LA82	Missense_Mutation	SNP	ENST00000393316.3	37	CCDS30809.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483456	0.44147	.	.	ENSG00000188761	ENST00000393316;ENST00000471267	T;T	0.04654	3.58;3.58	5.63	5.63	0.86233	.	0.051302	0.85682	D	0.000000	T	0.12347	0.0300	M	0.72118	2.19	0.42344	D	0.992343	D	0.89917	1.0	D	0.71870	0.975	T	0.00428	-1.1745	10	0.87932	D	0	.	13.382	0.60773	0.0:0.0:0.0:1.0	.	65	Q5TBC7	B2L15_HUMAN	H	65	ENSP00000376992:N65H;ENSP00000417458:N65H	ENSP00000376992:N65H	N	-	1	0	BCL2L15	114230738	1.000000	0.71417	0.732000	0.30844	0.003000	0.03518	4.112000	0.57845	2.155000	0.67459	0.528000	0.53228	AAC		0.428	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	NM_001010922		G	114429215	T	G	114429215	3	3	147	1	0	0	0	0	1	0	0	0	1373	1812	63	5	310	5	BCL2L15	1	114429215	Missense_Mutation	SNP	T	TCGA-13-1506-01A-01W-0549-09	787889	114429215	134821406	3	8096											
IGSF3	3321	genome.wustl.edu	37	1	117131694	117131694	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr1:117131694T>C	ENST00000369486.3	-	8	2827	c.2062A>G	c.(2062-2064)Acc>Gcc	p.T688A	IGSF3_ENST00000318837.6_Missense_Mutation_p.T708A|IGSF3_ENST00000369483.1_Missense_Mutation_p.T708A	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	688	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T688A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGGGTGAGGGTCCTCTTCGAT	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											85	82	83					1																	117131694		2203	4300	6503	116933217	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2062A>G	1.37:g.117131694T>C	ENSP00000358498:p.Thr688Ala		116933217	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.848969	0.32699	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64991	-0.13;-0.13;-0.13	4.16	4.16	0.48862	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.472387	0.21950	N	0.066751	T	0.29588	0.0738	N	0.21282	0.65	0.33958	D	0.645311	B;B;B	0.21688	0.012;0.059;0.016	B;B;B	0.22152	0.023;0.038;0.038	T	0.13255	-1.0516	10	0.33141	T	0.24	-34.646	11.1892	0.48675	0.0:0.0:0.0:1.0	.	708;688;708	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	A	688;708;708	ENSP00000358498:T688A;ENSP00000358495:T708A;ENSP00000321184:T708A	ENSP00000321184:T708A	T	-	1	0	IGSF3	116933217	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.606000	0.54095	1.749000	0.51849	0.379000	0.24179	ACC		0.532	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		C	117131694	T	C	117131694	3	2	147	1	0	0	0	0	1	0	0	0	7601	1667	58	4	1538	4	IGSF3	1	117131694	Missense_Mutation	SNP	T	TCGA-13-1506-01A-01W-0549-09	2702479	117131694	132118927	4	8097											
BTN1A1	696	genome.wustl.edu	37	6	26502054	26502054	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr6:26502054C>A	ENST00000244513.6	+	2	382	c.316C>A	c.(316-318)Cgc>Agc	p.R106S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	106	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.R106S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CGCCAAGGGGCGCGTGGCCTT	0.657																																																1	Substitution - Missense(1)	ovary(1)	6											30	32	31					6																	26502054		2201	4296	6497	26610033	SO:0001583	missense	696			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.316C>A	6.37:g.26502054C>A	ENSP00000244513:p.Arg106Ser		26610033	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472460	0.26423	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.02369	4.32	6.08	-0.107	0.13592	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.653399	0.15070	N	0.282243	T	0.00468	0.0015	N	0.11892	0.195	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.44003	-0.9356	10	0.14252	T	0.57	.	5.1347	0.14928	0.5182:0.3204:0.0:0.1614	.	106	Q13410	BT1A1_HUMAN	S	106	ENSP00000244513:R106S	ENSP00000244513:R106S	R	+	1	0	BTN1A1	26610033	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.806000	0.27126	0.424000	0.26061	0.655000	0.94253	CGC		0.657	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		A	26502054	C	A	26502054	3	1	147	1	0	0	0	0	1	0	0	0	1559	768	27	3	322	3	BTN1A1	6	26502054	Missense_Mutation	SNP	C	TCGA-13-1506-01A-01W-0549-09		26502054	144613013	5	8098											
TFAP2D	83741	genome.wustl.edu	37	6	50682841	50682841	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr6:50682841G>A	ENST00000008391.3	+	2	280	c.52G>A	c.(52-54)Gga>Aga	p.G18R		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.G18R(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACGTCACGACGGATCAAACAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	6											113	93	100					6																	50682841		2203	4300	6503	50790800	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.52G>A	6.37:g.50682841G>A	ENSP00000008391:p.Gly18Arg		50790800		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032011	0.75504	.	.	ENSG00000008197	ENST00000008391	D	0.98701	-5.08	5.67	5.67	0.87782	.	0.104261	0.64402	D	0.000003	D	0.97642	0.9227	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99938	1.1383	10	0.87932	D	0	-1.3239	19.7755	0.96391	0.0:0.0:1.0:0.0	.	18	Q7Z6R9	AP2D_HUMAN	R	18	ENSP00000008391:G18R	ENSP00000008391:G18R	G	+	1	0	TFAP2D	50790800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.676000	0.91093	0.655000	0.94253	GGA		0.527	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		A	50682841	G	A	50682841	3	1	147	1	0	0	0	0	1	0	0	0	15790	1117	39	1	58	1	TFAP2D	6	50682841	Missense_Mutation	SNP	G	TCGA-13-1506-01A-01W-0549-09	24180787	50682841	120432226	6	8099											
ABCA13	154664	genome.wustl.edu	37	7	48318317	48318317	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr7:48318317G>T	ENST00000435803.1	+	18	7550	c.7526G>T	c.(7525-7527)aGt>aTt	p.S2509I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2509					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S2454I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGAATGACAGTGCTGACCTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	7											193	192	192					7																	48318317		1868	4101	5969	48288863	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7526G>T	7.37:g.48318317G>T	ENSP00000411096:p.Ser2509Ile		48288863	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202191	0.38905	.	.	ENSG00000179869	ENST00000435803	T	0.53857	0.6	4.87	1.5	0.22942	.	0.554792	0.16119	N	0.228747	T	0.26195	0.0639	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.13899	-1.0492	10	0.32370	T	0.25	.	6.1359	0.20233	0.0:0.1602:0.3666:0.4732	.	2509	Q86UQ4	ABCAD_HUMAN	I	2509	ENSP00000411096:S2509I	ENSP00000411096:S2509I	S	+	2	0	ABCA13	48288863	0.000000	0.05858	0.001000	0.08648	0.890000	0.51754	0.027000	0.13621	0.415000	0.25817	0.655000	0.94253	AGT		0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48318317	G	T	48318317	3	4	147	1	0	0	0	0	1	0	0	0	31	1029	36	3	7425	3	ABCA13	7	48318317	Missense_Mutation	SNP	G	TCGA-13-1506-01A-01W-0549-09		48318317	110820346	7	8100											
GLIS3	169792	genome.wustl.edu	37	9	3856099	3856099	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr9:3856099G>C	ENST00000324333.10	-	8	2111	c.1918C>G	c.(1918-1920)Ccc>Gcc	p.P640A	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.P795A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	640					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P640A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGGGTATAGGGAGGCTGTGTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	9											154	145	148					9																	3856099		2203	4300	6503	3846099	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1918C>G	9.37:g.3856099G>C	ENSP00000325494:p.Pro640Ala		3846099	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	g	6.450	0.451172	0.12223	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11277	2.79;2.79	5.59	3.42	0.39159	.	0.261947	0.26400	N	0.024582	T	0.07234	0.0183	N	0.17082	0.46	0.28668	N	0.905798	P;B;B;B	0.40431	0.717;0.001;0.433;0.001	B;B;B;B	0.41271	0.352;0.002;0.164;0.002	T	0.11616	-1.0580	10	0.46703	T	0.11	.	7.4922	0.27469	0.211:0.1329:0.656:0.0	.	235;308;795;640	Q59FQ6;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	A	640;795	ENSP00000325494:P640A;ENSP00000371398:P795A	ENSP00000325494:P640A	P	-	1	0	GLIS3	3846099	0.996000	0.38824	0.994000	0.49952	0.362000	0.29581	0.341000	0.19909	1.380000	0.46344	0.561000	0.74099	CCC		0.473	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		C	3856099	G	C	3856099	3	2	147	1	0	0	0	0	1	0	0	0	6447	1174	41	3	421	3	GLIS3	9	3856099	Missense_Mutation	SNP	G	TCGA-13-1506-01A-01W-0549-09		3856099	137357332	8	8101											
FAM160A2	84067	genome.wustl.edu	37	11	6239044	6239044	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr11:6239044C>T	ENST00000449352.2	-	9	2035	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R591Q|FAM160A2_ENST00000265978.4_Missense_Mutation_p.R605Q|FAM160A2_ENST00000529360.1_5'Flank			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	591					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.R605Q(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCTTAGTCCGGGAGCCAAA	0.667																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	11											35	35	35					11																	6239044		2201	4296	6497	6195620	SO:0001583	missense	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1772G>A	11.37:g.6239044C>T	ENSP00000416918:p.Arg591Gln		6195620	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236984	0.58886	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.52295	0.67;0.67;0.67	5.16	5.16	0.70880	.	0.698200	0.14387	N	0.322754	T	0.56659	0.2000	L	0.56769	1.78	0.31859	N	0.621249	D;D;D	0.76494	0.995;0.98;0.999	P;B;P	0.59115	0.636;0.294;0.852	T	0.52465	-0.8572	10	0.12103	T	0.63	-8.8008	12.4521	0.55682	0.1676:0.8324:0.0:0.0	.	591;591;605	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	Q	591;516;605;591	ENSP00000416918:R591Q;ENSP00000265978:R605Q;ENSP00000431773:R591Q	ENSP00000265978:R605Q	R	-	2	0	FAM160A2	6195620	0.954000	0.32549	1.000000	0.80357	0.980000	0.70556	0.241000	0.18065	2.692000	0.91855	0.561000	0.74099	CGG		0.667	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		T	6239044	C	T	6239044	3	4	147	1	0	0	0	0	1	0	0	0	5469	652	23	1	1162	1	FAM160A2	11	6239044	Missense_Mutation	SNP	C	TCGA-13-1506-01A-01W-0549-09		6239044	128767472	9	8102											
SYTL2	54843	genome.wustl.edu	37	11	85436342	85436342	+	Intron	SNP	C	C	T			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr11:85436342C>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Silent_p.S910S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Silent_p.S386S|SYTL2_ENST00000525423.1_Silent_p.S386S|SYTL2_ENST00000524452.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S386S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTACAGTCTCCGAAATTTCCG	0.473																																																1	Substitution - coding silent(1)	ovary(1)	11											55	56	56					11																	85436342		2203	4299	6502	85113990	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2596G>A	11.37:g.85436342C>T			85113990	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.473	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		T	85436342	C	T	85436342	1	4	147	0	1	0	0	0	0	0	0	0	15483	639	23	1		1	SYTL2	11	85436342	Intron	SNP	C	TCGA-13-1506-01A-01W-0549-09	79197298	85436342	49570174	10	8103											
OVCH1	341350	genome.wustl.edu	37	12	29597205	29597205	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr12:29597205C>T	ENST00000318184.5	-	24	2889	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	964						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.D964N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATTTTACTGTCCTTTGGACCT	0.413																																																1	Substitution - Missense(1)	ovary(1)	12											86	86	86					12																	29597205		1818	4087	5905	29488472	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2890G>A	12.37:g.29597205C>T	ENSP00000326708:p.Asp964Asn		29488472		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	3.067	-0.191943	0.06299	.	.	ENSG00000187950	ENST00000318184	D	0.86432	-2.12	2.35	-0.684	0.11331	.	.	.	.	.	T	0.65344	0.2682	N	0.08118	0	0.09310	N	1	P	0.35011	0.48	B	0.19391	0.025	T	0.55528	-0.8127	8	.	.	.	.	5.3136	0.15843	0.0:0.5473:0.0:0.4527	.	964	Q7RTY7	OVCH1_HUMAN	N	964	ENSP00000326708:D964N	.	D	-	1	0	OVCH1	29488472	0.000000	0.05858	0.010000	0.14722	0.716000	0.41182	-0.236000	0.09003	-0.171000	0.10797	0.563000	0.77884	GAC		0.413	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		T	29597205	C	T	29597205	3	4	147	1	0	0	0	0	1	0	0	0	11323	855	30	2	534	2	OVCH1	12	29597205	Missense_Mutation	SNP	C	TCGA-13-1506-01A-01W-0549-09		29597205	104254690	11	8104											
RASSF9	9182	genome.wustl.edu	37	12	86199045	86199045	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr12:86199045T>A	ENST00000361228.3	-	2	1111	c.743A>T	c.(742-744)gAc>gTc	p.D248V		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	248					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.D248V(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATACTGCAAGTCTAGATTTTG	0.398																																																1	Substitution - Missense(1)	ovary(1)	12											123	120	121					12																	86199045		1904	4123	6027	84723176	SO:0001583	missense	9182				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.743A>T	12.37:g.86199045T>A	ENSP00000354884:p.Asp248Val		84723176	B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	T	0.453	-0.892698	0.02491	.	.	ENSG00000198774	ENST00000361228	T	0.47177	0.85	4.84	1.03	0.20045	.	1.056190	0.07368	U	0.885183	T	0.36690	0.0976	L	0.44542	1.39	0.09310	N	0.999992	B	0.22983	0.078	B	0.23852	0.049	T	0.28618	-1.0038	10	0.20519	T	0.43	-14.1532	5.5176	0.16916	0.0:0.2415:0.1365:0.622	.	248	O75901	RASF9_HUMAN	V	248	ENSP00000354884:D248V	ENSP00000354884:D248V	D	-	2	0	RASSF9	84723176	0.001000	0.12720	0.009000	0.14445	0.006000	0.05464	0.958000	0.29227	0.000000	0.14550	0.528000	0.53228	GAC		0.398	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			A	86199045	T	A	86199045	3	1	147	1	0	0	0	0	1	0	0	0	13096	1667	58	5	568	5	RASSF9	12	86199045	Missense_Mutation	SNP	T	TCGA-13-1506-01A-01W-0549-09	56601840	86199045	47652850	12	8105											
SSH1	54434	genome.wustl.edu	37	12	109198956	109198956	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr12:109198956C>T	ENST00000326495.5	-	10	923	c.830G>A	c.(829-831)cGt>cAt	p.R277H	SSH1_ENST00000551165.1_Missense_Mutation_p.R277H|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.R288H	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	277					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R277H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAATTCATTACGAATCTGTGG	0.348																																																1	Substitution - Missense(1)	ovary(1)	12											100	96	97					12																	109198956		2203	4300	6503	107723085	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.830G>A	12.37:g.109198956C>T	ENSP00000315713:p.Arg277His		107723085	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045069	0.93685	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470	T;T;T	0.36699	1.24;1.24;1.24	5.13	5.13	0.70059	DEK, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.80764	0.992;0.994;0.875	T	0.69566	-0.5111	10	0.87932	D	0	-15.4873	18.9648	0.92692	0.0:1.0:0.0:0.0	.	288;277;277	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	H	277;277;288	ENSP00000315713:R277H;ENSP00000448824:R277H;ENSP00000326107:R288H	ENSP00000326107:R288H	R	-	2	0	SSH1	107723085	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	7.725000	0.84808	2.523000	0.85059	0.655000	0.94253	CGT		0.348	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		T	109198956	C	T	109198956	3	4	147	1	0	0	0	0	1	0	0	0	15186	536	19	1	2529	1	SSH1	12	109198956	Missense_Mutation	SNP	C	TCGA-13-1506-01A-01W-0549-09	22999911	109198956	24652939	13	8106											
TMEM132B	114795	genome.wustl.edu	37	12	126135439	126135439	+	Silent	SNP	C	C	T	rs370664891		TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr12:126135439C>T	ENST00000299308.3	+	7	1847	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	TMEM132B_ENST00000535886.1_Silent_p.I125I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	613						integral component of membrane (GO:0016021)		p.I613I(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCGAAAATCGCTCAGTTAC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	12						C		0,4156		0,0,2078	62	67	65		1839	-8.4	0	12		65	3,8413		0,3,4205	no	coding-synonymous	TMEM132B	NM_052907.2		0,3,6283	TT,TC,CC		0.0356,0.0,0.0239		613/1079	126135439	3,12569	2078	4208	6286	124701392	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1839C>T	12.37:g.126135439C>T			124701392	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.592	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126135439	C	T	126135439	2	4	147	1	0	0	0	0	0	0	0	1	16046	874	31	1		1	TMEM132B	12	126135439	Silent	SNP	C	TCGA-13-1506-01A-01W-0549-09	16936483	126135439	7716456	14	8107											
ATP4B	496	genome.wustl.edu	37	13	114307239	114307239	+	Silent	SNP	G	G	C			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr13:114307239G>C	ENST00000335288.4	-	4	545	c.504C>G	c.(502-504)ccC>ccG	p.P168P		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	168					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)	p.P168P(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			AGCCGAAGTTGGGATCCGCCA	0.502																																																1	Substitution - coding silent(1)	ovary(1)	13											82	80	81					13																	114307239		2203	4300	6503	113355240	SO:0001819	synonymous_variant	496				CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"ATPases / P-type"	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.504C>G	13.37:g.114307239G>C			113355240	B1B0N8	Silent	SNP	ENST00000335288.4	37	CCDS9539.1																																																																																				0.502	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705		C	114307239	G	C	114307239	2	2	147	1	0	0	0	0	0	0	0	1	1146	1335	47	3		3	ATP4B	13	114307239	Silent	SNP	G	TCGA-13-1506-01A-01W-0549-09		114307239	862639	15	8108											
ALPK3	57538	genome.wustl.edu	37	15	85400502	85400502	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr15:85400502G>C	ENST00000258888.5	+	6	3306	c.3139G>C	c.(3139-3141)Ggg>Cgg	p.G1047R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1047					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1047R(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGCGGCCAGGGGGAGTGCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	15											65	56	59					15																	85400502		2203	4299	6502	83201506	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3139G>C	15.37:g.85400502G>C	ENSP00000258888:p.Gly1047Arg		83201506	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809821	0.31961	.	.	ENSG00000136383	ENST00000258888	T	0.63417	-0.04	4.96	3.03	0.35002	.	13.053500	0.00166	N	0.000000	T	0.54303	0.1850	L	0.32530	0.975	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.39921	-0.9590	10	0.56958	D	0.05	-4.863	6.3773	0.21515	0.1029:0.1955:0.7015:0.0	.	1047	Q96L96	ALPK3_HUMAN	R	1047	ENSP00000258888:G1047R	ENSP00000258888:G1047R	G	+	1	0	ALPK3	83201506	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	-0.525000	0.06214	0.472000	0.27344	0.563000	0.77884	GGG		0.642	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		C	85400502	G	C	85400502	3	2	147	1	0	0	0	0	1	0	0	0	546	1000	35	3	3161	3	ALPK3	15	85400502	Missense_Mutation	SNP	G	TCGA-13-1506-01A-01W-0549-09		85400502	17130890	16	8109											
GPR179	440435	genome.wustl.edu	37	17	36484432	36484432	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr17:36484432G>A	ENST00000342292.4	-	11	5040	c.5020C>T	c.(5020-5022)Ctt>Ttt	p.L1674F	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1674					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1674F(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATCTGGAGAAGGGTTTGGGGT	0.562																																																1	Substitution - Missense(1)	ovary(1)	17											113	112	112					17																	36484432		1937	4150	6087	33737958	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5020C>T	17.37:g.36484432G>A	ENSP00000345060:p.Leu1674Phe		33737958		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096389	0.20552	.	.	ENSG00000188888	ENST00000342292	T	0.51071	0.72	4.92	-0.555	0.11807	.	1.416550	0.04265	N	0.341114	T	0.23688	0.0573	N	0.08118	0	0.09310	N	1	B	0.26744	0.158	B	0.23018	0.043	T	0.12167	-1.0558	10	0.46703	T	0.11	1.4519	0.124	0.00067	0.2802:0.2104:0.156:0.3534	.	1674	Q6PRD1	GP179_HUMAN	F	1674	ENSP00000345060:L1674F	ENSP00000345060:L1674F	L	-	1	0	GPR179	33737958	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.977000	0.03782	-0.289000	0.09038	-0.262000	0.10625	CTT		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36484432	G	A	36484432	3	1	147	1	0	0	0	0	1	0	0	0	6674	1000	35	2	2087	2	GPR179	17	36484432	Missense_Mutation	SNP	G	TCGA-13-1506-01A-01W-0549-09		36484432	44710778	17	8110											
FAM38B	63895	genome.wustl.edu	37	18	10691284	10691284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr18:10691284G>A	ENST00000503781.3	-	44	6948	c.6949C>T	c.(6949-6951)Cga>Tga	p.R2317*	PIEZO2_ENST00000302079.6_Nonsense_Mutation_p.R2317*|PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.R274*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.R2342*|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.R172*	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2317					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.R172*(1)									CCCAGGACTCGCGTTGGGTAG	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	18											106	93	98					18																	10691284		2203	4300	6503	10681284	SO:0001587	stop_gained	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6949C>T	18.37:g.10691284G>A	ENSP00000421377:p.Arg2317*		10681284	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Nonsense_Mutation	SNP	ENST00000503781.3	37		.	.	.	.	.	.	.	.	.	.	G	41	8.918582	0.99002	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	.	.	.	5.62	3.78	0.43462	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	14.9249	0.70868	0.0:0.0:0.7381:0.2619	.	.	.	.	X	274;2317;274;172	.	ENSP00000285141:R172X	R	-	1	2	FAM38B	10681284	1.000000	0.71417	0.042000	0.18584	0.854000	0.48673	7.803000	0.85983	0.794000	0.33899	-0.181000	0.13052	CGA		0.493	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		A	10691284	G	A	10691284	4	1	147	1	0	0	0	0	0	1	0	0	5555	1095	38	1	1345	1	FAM38B	18	10691284	Nonsense_Mutation	SNP	G	TCGA-13-1506-01A-01W-0549-09		10691284	67385964	18	8111											
KIAA0427	9811	genome.wustl.edu	37	18	46284504	46284504	+	Missense_Mutation	SNP	G	G	A	rs202032754		TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr18:46284504G>A	ENST00000256413.3	+	8	1094	c.799G>A	c.(799-801)Gca>Aca	p.A267T	CTIF_ENST00000382998.4_Missense_Mutation_p.A267T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	267	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.A267T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGAGGCAGGCGCACACCGCAA	0.652													G|||	1	0.000199681	0	0.0014	5008	,	,		17129	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	18											91	85	87					18																	46284504		2203	4299	6502	44538502	SO:0001583	missense	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.799G>A	18.37:g.46284504G>A	ENSP00000256413:p.Ala267Thr		44538502	B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	CCDS11935.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.373	0.835744	0.16820	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.41400	1.01;1.0	5.19	-5.39	0.02664	.	1.302590	0.05017	N	0.471985	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19484	-1.0304	10	0.21540	T	0.41	-11.6721	7.579	0.27952	0.6209:0.0:0.2693:0.1098	.	267;267	O43310-2;O43310	.;CTIF_HUMAN	T	267;267;219	ENSP00000256413:A267T;ENSP00000372459:A267T	ENSP00000256413:A267T	A	+	1	0	CTIF	44538502	0.000000	0.05858	0.573000	0.28510	0.983000	0.72400	-1.284000	0.02793	-0.702000	0.05056	-0.367000	0.07326	GCA		0.652	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		A	46284504	G	A	46284504	3	1	147	1	0	0	0	0	1	0	0	0	8176	1087	38	1	825	1	KIAA0427	18	46284504	Missense_Mutation	SNP	G	TCGA-13-1506-01A-01W-0549-09	35593220	46284504	31792744	19	8112											
BTBD2	55643	genome.wustl.edu	37	19	1997416	1997416	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr19:1997416C>T	ENST00000255608.4	-	2	470	c.454G>A	c.(454-456)Ggg>Agg	p.G152R	BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	152	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasmic mRNA processing body (GO:0000932)		p.G152R(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCATTCCCCCGTTGAACATG	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											171	151	158					19																	1997416		2203	4300	6503	1948416	SO:0001583	missense	55643			AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.454G>A	19.37:g.1997416C>T	ENSP00000255608:p.Gly152Arg		1948416	O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309866	0.81247	.	.	ENSG00000133243	ENST00000255608	T	0.26223	1.75	4.31	4.31	0.51392	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76072	-0.3093	10	0.87932	D	0	-48.253	16.1069	0.81230	0.0:1.0:0.0:0.0	.	152	Q9BX70	BTBD2_HUMAN	R	152	ENSP00000255608:G152R	ENSP00000255608:G152R	G	-	1	0	BTBD2	1948416	1.000000	0.71417	0.993000	0.49108	0.533000	0.34776	7.495000	0.81514	2.123000	0.65237	0.561000	0.74099	GGG		0.632	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			T	1997416	C	T	1997416	3	4	147	1	0	0	0	0	1	0	0	0	1543	652	23	1	1155	1	BTBD2	19	1997416	Missense_Mutation	SNP	C	TCGA-13-1506-01A-01W-0549-09		1997416	57131567	20	8113											
ANKRD27	84079	genome.wustl.edu	37	19	33096796	33096796	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chr19:33096796G>A	ENST00000306065.4	-	24	2596	c.2438C>T	c.(2437-2439)cCc>cTc	p.P813L	SNORA68_ENST00000364518.1_RNA	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	813					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.P813L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GTAAATGAGGGGCGTGTTTCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	19											150	138	142					19																	33096796		2203	4300	6503	37788636	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2438C>T	19.37:g.33096796G>A	ENSP00000304292:p.Pro813Leu		37788636	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978755	0.74360	.	.	ENSG00000105186	ENST00000306065	T	0.71698	-0.59	5.92	5.92	0.95590	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000014	D	0.85801	0.5781	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.86491	0.1797	10	0.87932	D	0	-32.6523	19.9016	0.96988	0.0:0.0:1.0:0.0	.	813	Q96NW4	ANR27_HUMAN	L	813	ENSP00000304292:P813L	ENSP00000304292:P813L	P	-	2	0	ANKRD27	37788636	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	8.086000	0.89520	2.809000	0.96659	0.650000	0.86243	CCC		0.522	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		A	33096796	G	A	33096796	3	1	147	1	0	0	0	0	1	0	0	0	655	1232	43	2	738	2	ANKRD27	19	33096796	Missense_Mutation	SNP	G	TCGA-13-1506-01A-01W-0549-09	31099380	33096796	26032187	21	8114											
PPP1R3F	89801	genome.wustl.edu	37	X	49143088	49143088	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chrX:49143088A>T	ENST00000055335.6	+	4	1952	c.1936A>T	c.(1936-1938)Atg>Ttg	p.M646L	PPP1R3F_ENST00000466508.1_Missense_Mutation_p.M300L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.M300L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.M317L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.M300L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	646					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.M646L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TGAGAAAGGGATGGGCAAGGA	0.587																																																1	Substitution - Missense(1)	ovary(1)	X											56	42	47					X																	49143088		2203	4299	6502	49030032	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1936A>T	X.37:g.49143088A>T	ENSP00000055335:p.Met646Leu		49030032	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	A	0.029	-1.345547	0.01266	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.55930	0.92;0.92;0.49;0.92;0.92	4.58	-9.16	0.00694	.	0.825456	0.10868	N	0.625297	T	0.25082	0.0609	N	0.24115	0.695	0.09310	N	1	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.09377	0.001;0.001;0.004	T	0.16188	-1.0411	10	0.56958	D	0.05	0.007	0.2312	0.00180	0.232:0.2334:0.2499:0.2848	.	317;331;646	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	L	300;317;646;300;300	ENSP00000420687:M300L;ENSP00000415548:M317L;ENSP00000055335:M646L;ENSP00000417535:M300L;ENSP00000365359:M300L	ENSP00000055335:M646L	M	+	1	0	PPP1R3F	49030032	0.001000	0.12720	0.009000	0.14445	0.399000	0.30720	-1.250000	0.02885	-2.120000	0.00826	-1.949000	0.00487	ATG		0.587	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		T	49143088	A	T	49143088	3	4	147	1	0	0	0	0	1	0	0	0	12378	333	12	5	1950	5	PPP1R3F	23	49143088	Missense_Mutation	SNP	A	TCGA-13-1506-01A-01W-0549-09		49143088	106127472	22	8115											
CD99L2	83692	genome.wustl.edu	37	X	149938798	149938798	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1506-01A-01W-0549-09	TCGA-13-1506-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7534b542-88f8-445c-ae4a-9f44fb6798a8	c8e62840-3b96-452f-b0c1-1f755f41931f	g.chrX:149938798C>T	ENST00000370377.3	-	10	817	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	CD99L2_ENST00000466436.1_Missense_Mutation_p.V185M|CD99L2_ENST00000355149.3_Missense_Mutation_p.V162M|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Missense_Mutation_p.V161M	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	234					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V234M(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCACATACCACGGCTTCCAGG	0.532																																																1	Substitution - Missense(1)	ovary(1)	X											240	138	173					X																	149938798		2203	4300	6503	149689456	SO:0001583	missense	83692			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.700G>A	X.37:g.149938798C>T	ENSP00000359403:p.Val234Met		149689456	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649224	0.47362	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000437787;ENST00000466436	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.09	4.23	0.50019	.	0.067840	0.64402	D	0.000016	T	0.51822	0.1697	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.54997	-0.8209	9	.	.	.	-7.6682	13.3308	0.60485	0.0:0.9209:0.0:0.0791	.	161;162;185;234	E9PD27;Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;.;C99L2_HUMAN	M	234;244;162;161;185	ENSP00000359403:V234M;ENSP00000347275:V162M;ENSP00000394858:V161M;ENSP00000417697:V185M	.	V	-	1	0	CD99L2	149689456	1.000000	0.71417	0.010000	0.14722	0.357000	0.29423	6.314000	0.72848	1.064000	0.40671	-0.344000	0.07964	GTG		0.532	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		T	149938798	C	T	149938798	3	4	147	1	0	0	0	0	1	0	0	0	3051	536	19	1	96	1	CD99L2	23	149938798	Missense_Mutation	SNP	C	TCGA-13-1506-01A-01W-0549-09	100795710	149938798	5331762	23	8116											
MIIP	60672	genome.wustl.edu	37	1	12089946	12089946	+	Silent	SNP	C	C	T	rs117146839	byFrequency	TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:12089946C>T	ENST00000235332.4	+	7	1009	c.840C>T	c.(838-840)caC>caT	p.H280H	MIIP_ENST00000436478.2_Silent_p.H280H|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	280	Interaction with IGFBP2.							p.H280H(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGCCAGCGCACGTCAGGTGAG	0.667																																																1	Substitution - coding silent(1)	ovary(1)	1											34	33	33					1																	12089946		2203	4299	6502	12012533	SO:0001819	synonymous_variant	60672			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"invasion inhibitory protein 45"	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.840C>T	1.37:g.12089946C>T			12012533	C0KL22|Q96HU6|Q9H839|Q9HA00	Silent	SNP	ENST00000235332.4	37	CCDS143.1																																																																																				0.667	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		T	12089946	C	T	12089946	2	4	148	1	0	0	0	0	0	0	0	1	9585	535	19	1		1	MIIP	1	12089946	Silent	SNP	C	TCGA-13-1507-01A-01W-0549-09		12089946	237160675	1	8117											
WNT4	54361	genome.wustl.edu	37	1	22448064	22448064	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:22448064G>A	ENST00000290167.6	-	3	362	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	WNT4_ENST00000542383.1_Missense_Mutation_p.R52W	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	107					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)	p.R107W(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCCGCCTCCCGAGTCCCTGTG	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											33	34	34					1																	22448064		2203	4300	6503	22320651	SO:0001583	missense	54361			AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.319C>T	1.37:g.22448064G>A	ENSP00000290167:p.Arg107Trp		22320651	B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	CCDS223.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197078	0.79015	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	D;D	0.81739	-1.53;-1.53	4.48	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93164	0.6560	10	0.87932	D	0	.	10.5852	0.45278	0.0:0.0:0.6755:0.3245	.	107	P56705	WNT4_HUMAN	W	107;52	ENSP00000290167:R107W;ENSP00000441033:R52W	ENSP00000290167:R107W	R	-	1	2	WNT4	22320651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.305000	0.59110	2.219000	0.72066	0.555000	0.69702	CGG		0.662	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			A	22448064	G	A	22448064	3	1	148	1	0	0	0	0	1	0	0	0	17390	1057	37	1	748	1	WNT4	1	22448064	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	10358118	22448064	226802557	2	8118											
ZMYM6	9204	genome.wustl.edu	37	1	35474438	35474438	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:35474438T>C	ENST00000357182.4	-	11	1807	c.1580A>G	c.(1579-1581)aAt>aGt	p.N527S	ZMYM6_ENST00000487874.1_Missense_Mutation_p.N527S|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.N527S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	527					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N527S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTCTACCAAATTTGGGGATGT	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											110	110	110					1																	35474438		2203	4300	6503	35247025	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1580A>G	1.37:g.35474438T>C	ENSP00000349708:p.Asn527Ser		35247025	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	19.86	3.906430	0.72868	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.21932	1.98;3.16	4.94	4.94	0.65067	TRASH (1);	0.229151	0.43416	D	0.000569	T	0.27169	0.0666	L	0.51422	1.61	0.28471	N	0.915422	B;P;P	0.45715	0.435;0.865;0.532	B;P;B	0.45913	0.078;0.497;0.356	T	0.08973	-1.0696	10	0.48119	T	0.1	-14.8986	15.0721	0.72046	0.0:0.0:0.0:1.0	.	430;527;527	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	S	527	ENSP00000362437:N527S;ENSP00000349708:N527S	ENSP00000349708:N527S	N	-	2	0	ZMYM6	35247025	1.000000	0.71417	0.977000	0.42913	0.945000	0.59286	3.075000	0.50073	2.201000	0.70794	0.528000	0.53228	AAT		0.398	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		C	35474438	T	C	35474438	3	2	148	1	0	0	0	0	1	0	0	0	17704	1493	52	4	2421	4	ZMYM6	1	35474438	Missense_Mutation	SNP	T	TCGA-13-1507-01A-01W-0549-09	13026374	35474438	213776183	3	8119											
MACF1	23499	genome.wustl.edu	37	1	39905072	39905072	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:39905072C>G	ENST00000372915.3	+	71	18131	c.18044C>G	c.(18043-18045)gCt>gGt	p.A6015G	MACF1_ENST00000289893.4_Missense_Mutation_p.A4559G|MACF1_ENST00000361689.2_Missense_Mutation_p.A4057G|MACF1_ENST00000567887.1_Missense_Mutation_p.A6153G|MACF1_ENST00000564288.1_Missense_Mutation_p.A6116G|MACF1_ENST00000539005.1_Missense_Mutation_p.A3927G|MACF1_ENST00000317713.7_Missense_Mutation_p.A4057G|MACF1_ENST00000545844.1_Missense_Mutation_p.A4057G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6015					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.A4057G(1)|p.A4559G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACATGGCAGCTCTCCTGACC	0.458																																																2	Substitution - Missense(2)	ovary(2)	1											86	81	83					1																	39905072		2203	4300	6503	39677659	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18044C>G	1.37:g.39905072C>G	ENSP00000362006:p.Ala6015Gly		39677659	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.198371|5.198371	0.94997|0.94997	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52754|.	0.65;0.65;0.65;0.65;0.65;0.65|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.71434|0.71434	0.3339|0.3339	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	D;B|.	0.76494|.	0.999;0.446|.	D;B|.	0.68039|.	0.955;0.363|.	T|T	0.66555|0.66555	-0.5894|-0.5894	10|5	0.51188|.	T|.	0.08|.	.|.	19.9826|19.9826	0.97334|0.97334	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6015;4057|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	G|R	4057;6015;4057;4057;3927;4559|3060	ENSP00000439537:A4057G;ENSP00000362006:A6015G;ENSP00000354573:A4057G;ENSP00000313438:A4057G;ENSP00000444364:A3927G;ENSP00000289893:A4559G|.	ENSP00000289893:A4559G|.	A|S	+|+	2|3	0|2	MACF1|MACF1	39677659|39677659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.814000|7.814000	0.86154|0.86154	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39905072	C	G	39905072	3	3	148	1	0	0	0	0	1	0	0	0	9144	797	28	3	18591	3	MACF1	1	39905072	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	4430634	39905072	209345549	4	8120											
YBX1	4904	genome.wustl.edu	37	1	43162404	43162404	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:43162404C>G	ENST00000321358.7	+	5	585	c.446C>G	c.(445-447)cCa>cGa	p.P149R	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	149					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.P149R(1)		large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGACGCTATCCACGTCGTAGG	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											76	78	77					1																	43162404		2203	4300	6503	42934991	SO:0001583	missense	4904			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"nuclease sensitive element binding protein 1"	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.446C>G	1.37:g.43162404C>G	ENSP00000361626:p.Pro149Arg		42934991	P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	CCDS470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.35|18.35	3.605110|3.605110	0.66445|0.66445	.|.	.|.	ENSG00000065978|ENSG00000065978	ENST00000436427|ENST00000321358;ENST00000332220;ENST00000318612	.|T;T	.|0.34472	.|1.36;1.36	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.094233	.|0.85682	.|D	.|0.000000	T|T	0.39226|0.39226	0.1070|0.1070	M|M	0.85945|0.85945	2.785|2.785	0.58432|0.58432	D|D	0.999994|0.999994	.|P	.|0.40875	.|0.731	.|B	.|0.35312	.|0.2	T|T	0.34750|0.34750	-0.9816|-0.9816	5|10	.|0.24483	.|T	.|0.36	-1.9726|-1.9726	11.734|11.734	0.51755|0.51755	0.1764:0.8236:0.0:0.0|0.1764:0.8236:0.0:0.0	.|.	.|149	.|P67809	.|YBOX1_HUMAN	D|R	199|149;119;145	.|ENSP00000361626:P149R;ENSP00000405937:P119R	.|ENSP00000361621:P145R	H|P	+|+	1|2	0|0	YBX1|YBX1	42934991|42934991	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.403000|5.403000	0.66338|0.66338	2.600000|2.600000	0.87896|0.87896	0.563000|0.563000	0.77884|0.77884	CAC|CCA		0.517	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		G	43162404	C	G	43162404	3	3	148	1	0	0	0	0	1	0	0	0	17469	594	21	3	464	3	YBX1	1	43162404	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	3257332	43162404	206088217	5	8121											
YBX1	4904	genome.wustl.edu	37	1	43166659	43166659	+	Silent	SNP	C	C	T	rs371842681		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:43166659C>T	ENST00000321358.7	+	7	1087	c.948C>T	c.(946-948)ccC>ccT	p.P316P		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	316					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.P316P(1)		large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTCCGCTCCCGAGGCTGAGC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	1						C		0,4406		0,0,2203	47	48	48		948	5.4	1	1		48	1,8599		0,1,4299	no	coding-synonymous	YBX1	NM_004559.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		316/325	43166659	1,13005	2203	4300	6503	42939246	SO:0001819	synonymous_variant	4904			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"nuclease sensitive element binding protein 1"	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.948C>T	1.37:g.43166659C>T			42939246	P16990|P16991|Q14972|Q15325|Q5FVF0	Silent	SNP	ENST00000321358.7	37	CCDS470.1	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136728	0.21123	0.0	1.16E-4	ENSG00000065978	ENST00000436427	T	0.40225	1.04	5.39	5.39	0.77823	.	0.098626	0.64402	N	0.000001	T	0.62073	0.2398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66035	-0.6023	7	0.87932	D	0	-3.0175	16.6483	0.85182	0.0:1.0:0.0:0.0	.	.	.	.	L	366	ENSP00000389639:P366L	ENSP00000389639:P366L	P	+	2	0	YBX1	42939246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.129000	0.77225	2.505000	0.84491	0.557000	0.71058	CCG		0.542	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		T	43166659	C	T	43166659	2	4	148	1	0	0	0	0	0	0	0	1	17469	639	23	1		1	YBX1	1	43166659	Silent	SNP	C	TCGA-13-1507-01A-01W-0549-09	4255	43166659	206083962	6	8122											
ABCA4	24	genome.wustl.edu	37	1	94548924	94548924	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:94548924G>A	ENST00000370225.3	-	7	928	c.842C>T	c.(841-843)tCa>tTa	p.S281L	ABCA4_ENST00000535735.1_Missense_Mutation_p.S281L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	281					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.S281L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AATTCTTGGTGACATATCAGA	0.348																																																1	Substitution - Missense(1)	ovary(1)	1											184	202	195					1																	94548924		2203	4300	6503	94321512	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.842C>T	1.37:g.94548924G>A	ENSP00000359245:p.Ser281Leu		94321512	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079285	0.55753	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91407	-2.72;-2.84	5.59	4.68	0.58851	.	0.672345	0.14279	N	0.329622	T	0.78065	0.4225	L	0.39633	1.23	0.58432	D	0.999999	P;B	0.36974	0.576;0.001	B;B	0.33620	0.167;0.002	T	0.75599	-0.3262	10	0.14252	T	0.57	.	14.9659	0.71193	0.0689:0.0:0.9311:0.0	.	281;281	F5H6E5;P78363	.;ABCA4_HUMAN	L	281	ENSP00000359245:S281L;ENSP00000437682:S281L	ENSP00000359245:S281L	S	-	2	0	ABCA4	94321512	1.000000	0.71417	0.957000	0.39632	0.912000	0.54170	6.677000	0.74503	1.493000	0.48517	-0.150000	0.13652	TCA		0.348	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94548924	G	A	94548924	3	1	148	1	0	0	0	0	1	0	0	0	34	1294	45	2	6155	2	ABCA4	1	94548924	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	51382265	94548924	154701697	7	8123											
DPYD	1806	genome.wustl.edu	37	1	98015114	98015114	+	Splice_Site	SNP	A	A	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:98015114A>T	ENST00000370192.3	-	12	1625		c.e12+1			NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase						beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.?(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GCAAATGCCTACCTGTACGTA	0.363																																																1	Unknown(1)	ovary(1)	1											145	123	131					1																	98015114		2203	4300	6503	97787702	SO:0001630	splice_region_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1524+1T>A	1.37:g.98015114A>T			97787702	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Splice_Site	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077134	0.55753	.	.	ENSG00000188641	ENST00000370192	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPYD	97787702	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	8.893000	0.92498	2.367000	0.80283	0.528000	0.53228	.		0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	Intron	T	98015114	A	T	98015114	5	4	148	1	0	0	0	0	0	0	1	0	4745	405	14	5	1599	5	DPYD	1	98015114	Splice_Site	SNP	A	TCGA-13-1507-01A-01W-0549-09	3466190	98015114	151235507	8	8124											
SV2A	9900	genome.wustl.edu	37	1	149881106	149881106	+	Silent	SNP	C	C	A	rs375397567		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:149881106C>A	ENST00000369146.3	-	7	1687	c.1197G>T	c.(1195-1197)acG>acT	p.T399T	SV2A_ENST00000369145.1_Silent_p.T399T	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	399					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.T399T(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCTGATGAATCGTCTTAATGT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	1						C		0,4406		0,0,2203	67	66	66		1197	-6	0.9	1		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SV2A	NM_014849.3		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		399/743	149881106	1,13005	2203	4300	6503	148147730	SO:0001819	synonymous_variant	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1197G>T	1.37:g.149881106C>A			148147730	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	CCDS940.1																																																																																				0.577	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			A	149881106	C	A	149881106	2	1	148	1	0	0	0	0	0	0	0	1	15417	871	31	3		3	SV2A	1	149881106	Silent	SNP	C	TCGA-13-1507-01A-01W-0549-09	51865992	149881106	99369515	9	8125											
SETDB1	9869	genome.wustl.edu	37	1	150921932	150921932	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:150921932C>G	ENST00000271640.5	+	12	1701	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.S504C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	504					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S504C(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGGTCATTCCTCCCCTACA	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											143	141	142					1																	150921932		2203	4300	6503	149188556	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1511C>G	1.37:g.150921932C>G	ENSP00000271640:p.Ser504Cys		149188556	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176802	0.78564	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.90004	-2.6;1.2;-2.6;0.87	4.86	4.86	0.63082	.	0.102130	0.64402	D	0.000003	D	0.88492	0.6451	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79784	0.97;0.993;0.993;0.984	D	0.88327	0.2966	10	0.38643	T	0.18	.	18.1851	0.89790	0.0:1.0:0.0:0.0	.	504;505;504;504	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	C	504;505;504;504	ENSP00000271640:S504C;ENSP00000436148:S505C;ENSP00000357965:S504C;ENSP00000432348:S504C	ENSP00000271640:S504C	S	+	2	0	SETDB1	149188556	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	5.122000	0.64697	2.528000	0.85240	0.561000	0.74099	TCC		0.512	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			G	150921932	C	G	150921932	3	3	148	1	0	0	0	0	1	0	0	0	14141	855	30	3	1553	3	SETDB1	1	150921932	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	1040826	150921932	98328689	10	8126											
SCNM1	79005	genome.wustl.edu	37	1	151140771	151140771	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:151140771C>A	ENST00000368905.4	+	6	661	c.550C>A	c.(550-552)Ccc>Acc	p.P184T	LYSMD1_ENST00000368908.5_5'Flank|LYSMD1_ENST00000440902.2_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	184					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.P184T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCCATGAGCCCCACAAGAAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											125	126	126					1																	151140771		2203	4300	6503	149407395	SO:0001583	missense	79005			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.550C>A	1.37:g.151140771C>A	ENSP00000357901:p.Pro184Thr		149407395	B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	CCDS987.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439247	0.63067	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.5	4.59	0.56863	.	0.250357	0.39475	N	0.001350	T	0.26484	0.0647	L	0.34521	1.04	0.34382	D	0.693227	P	0.36144	0.539	B	0.35353	0.201	T	0.28138	-1.0053	9	0.62326	D	0.03	0.0173	11.5142	0.50511	0.1788:0.8212:0.0:0.0	.	184	Q9BWG6	SCNM1_HUMAN	T	184;149	.	ENSP00000357898:P149T	P	+	1	0	SCNM1	149407395	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	2.609000	0.46317	1.521000	0.48983	0.655000	0.94253	CCC		0.532	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	NM_024041		A	151140771	C	A	151140771	3	1	148	1	0	0	0	0	1	0	0	0	13929	623	22	3	572	3	SCNM1	1	151140771	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	218839	151140771	98109850	11	8127											
FLG2	388698	genome.wustl.edu	37	1	152324686	152324686	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:152324686T>G	ENST00000388718.5	-	3	5648	c.5576A>C	c.(5575-5577)cAa>cCa	p.Q1859P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1859					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q1859P(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACCAGATTGAGAATGTCC	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											332	289	304					1																	152324686		2203	4300	6503	150591310	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5576A>C	1.37:g.152324686T>G	ENSP00000373370:p.Gln1859Pro		150591310	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646474	0.29246	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	3.88	0.21	0.15231	.	.	.	.	.	T	0.02047	0.0064	L	0.39898	1.24	0.09310	N	1	P	0.49185	0.92	P	0.52309	0.695	T	0.41016	-0.9532	9	0.20519	T	0.43	7.1489	3.3985	0.07315	0.0:0.2342:0.2317:0.5341	.	1859	Q5D862	FILA2_HUMAN	P	1859	ENSP00000373370:Q1859P	ENSP00000373370:Q1859P	Q	-	2	0	FLG2	150591310	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.465000	0.22004	0.191000	0.20236	0.449000	0.29647	CAA		0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		G	152324686	T	G	152324686	3	3	148	1	0	0	0	0	1	0	0	0	5923	1812	63	5	1603	5	FLG2	1	152324686	Missense_Mutation	SNP	T	TCGA-13-1507-01A-01W-0549-09	1183915	152324686	96925935	12	8128											
DENND4B	9909	genome.wustl.edu	37	1	153903207	153903207	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:153903207T>A	ENST00000361217.4	-	26	4659	c.4241A>T	c.(4240-4242)gAa>gTa	p.E1414V	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1414					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E1302V(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCTAGAGTTTCCAGCAGGAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											24	27	26					1																	153903207		1984	4157	6141	152169831	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4241A>T	1.37:g.153903207T>A	ENSP00000354597:p.Glu1414Val		152169831	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.582652	0.46006	.	.	ENSG00000198837	ENST00000361217	T	0.08546	3.08	5.14	5.14	0.70334	.	0.389449	0.27730	N	0.018085	T	0.02929	0.0087	L	0.27053	0.805	0.51482	D	0.999923	P	0.37864	0.61	B	0.37422	0.249	T	0.39840	-0.9594	10	0.59425	D	0.04	-3.6469	8.6893	0.34256	0.0:0.0855:0.0:0.9145	.	1414	O75064	DEN4B_HUMAN	V	1414	ENSP00000354597:E1414V	ENSP00000354597:E1414V	E	-	2	0	DENND4B	152169831	1.000000	0.71417	0.958000	0.39756	0.966000	0.64601	4.804000	0.62554	2.155000	0.67459	0.460000	0.39030	GAA		0.597	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		A	153903207	T	A	153903207	3	1	148	1	0	0	0	0	1	0	0	0	4434	1783	62	5	261	5	DENND4B	1	153903207	Missense_Mutation	SNP	T	TCGA-13-1507-01A-01W-0549-09	1578521	153903207	95347414	13	8129											
HHAT	55733	genome.wustl.edu	37	1	210686532	210686532	+	Splice_Site	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:210686532G>A	ENST00000367010.1	+	9	1270	c.1043G>A	c.(1042-1044)aGg>aAg	p.R348K	HHAT_ENST00000391905.3_Splice_Site_p.R348K|HHAT_ENST00000545781.1_Splice_Site_p.R285K|HHAT_ENST00000261458.3_Splice_Site_p.R348K|HHAT_ENST00000413764.2_Splice_Site_p.R348K|HHAT_ENST00000537898.1_Splice_Site_p.R283K|HHAT_ENST00000367009.1_Splice_Site_p.R38K|HHAT_ENST00000545154.1_Splice_Site_p.R349K|HHAT_ENST00000308852.6_Splice_Site_p.R303K|HHAT_ENST00000541565.1_Splice_Site_p.R211K	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	348					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)	p.R348K(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TTCTTAATCAGGTAAGCCAAT	0.264																																																1	Substitution - Missense(1)	ovary(1)	1											78	81	80					1																	210686532		2199	4298	6497	208753155	SO:0001630	splice_region_variant	55733			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1043+1G>A	1.37:g.210686532G>A			208753155	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389764	0.82902	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	L	0.50919	1.6	0.41956	D	0.990685	D;D;D;D;D	0.76494	0.997;0.996;0.998;0.999;0.999	D;D;D;D;D	0.75020	0.957;0.928;0.968;0.985;0.957	T	0.81357	-0.0969	10	0.34782	T	0.22	-25.1946	13.2422	0.60004	0.0:0.0:1.0:0.0	.	303;349;211;283;348	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	K	348;211;349;283;348;285;348;303;348;38	ENSP00000416845:R348K;ENSP00000444995:R211K;ENSP00000438468:R349K;ENSP00000442625:R283K;ENSP00000375773:R348K;ENSP00000439229:R285K;ENSP00000261458:R348K;ENSP00000308628:R303K;ENSP00000355977:R348K;ENSP00000355976:R38K	ENSP00000261458:R348K	R	+	2	0	HHAT	208753155	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.174000	0.58256	2.576000	0.86940	0.655000	0.94253	AGG		0.264	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194	Missense_Mutation	A	210686532	G	A	210686532	5	1	148	1	0	0	0	0	0	0	1	0	7089	1014	35	2	1171	2	HHAT	1	210686532	Splice_Site	SNP	G	TCGA-13-1507-01A-01W-0549-09	56783325	210686532	38564089	14	8130											
USH2A	7399	genome.wustl.edu	37	1	215972433	215972433	+	Silent	SNP	C	C	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:215972433C>A	ENST00000307340.3	-	50	10160	c.9774G>T	c.(9772-9774)cgG>cgT	p.R3258R	USH2A_ENST00000366943.2_Silent_p.R3258R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3258					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R3258R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACAGAAACCCGATTGTGCT	0.433										HNSCC(13;0.011)																																						1	Substitution - coding silent(1)	ovary(1)	1											75	66	69					1																	215972433		2203	4300	6503	214039056	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9774G>T	1.37:g.215972433C>A			214039056	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	215972433	C	A	215972433	2	1	148	1	0	0	0	0	0	0	0	1	17036	610	22	3		3	USH2A	1	215972433	Silent	SNP	C	TCGA-13-1507-01A-01W-0549-09	5285901	215972433	33278188	15	8131											
OBSCN	84033	genome.wustl.edu	37	1	228444596	228444596	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:228444596C>G	ENST00000422127.1	+	15	4598	c.4554C>G	c.(4552-4554)agC>agG	p.S1518R	OBSCN_ENST00000284548.11_Missense_Mutation_p.S1518R|OBSCN_ENST00000359599.6_Missense_Mutation_p.S82R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.S1610R|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1518	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.S1518R(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCGGGGAGCCAGCGGCTCT	0.652																																																2	Substitution - Missense(2)	ovary(2)	1											40	48	45					1																	228444596		2060	4191	6251	226511219	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4554C>G	1.37:g.228444596C>G	ENSP00000409493:p.Ser1518Arg		226511219	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	7.710	0.694865	0.15039	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.05025	3.51;3.51;3.55	4.6	0.0116	0.14088	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.448691	0.22287	N	0.062054	T	0.03178	0.0093	N	0.25825	0.765	0.80722	D	1	P;P	0.43633	0.784;0.813	B;B	0.37480	0.233;0.251	T	0.56836	-0.7913	10	0.18276	T	0.48	.	4.1996	0.10460	0.2391:0.3355:0.3489:0.0765	.	1518;1518	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1518;1518;82	ENSP00000284548:S1518R;ENSP00000409493:S1518R;ENSP00000352613:S82R	ENSP00000284548:S1518R	S	+	3	2	OBSCN	226511219	0.621000	0.27077	1.000000	0.80357	0.066000	0.16364	-0.263000	0.08670	0.350000	0.24002	0.491000	0.48974	AGC		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228444596	C	G	228444596	3	3	148	1	0	0	0	0	1	0	0	0	10812	738	26	3	4608	3	OBSCN	1	228444596	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	12472163	228444596	20806025	16	8132											
RYR2	6262	genome.wustl.edu	37	1	237777662	237777662	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:237777662A>C	ENST00000366574.2	+	37	5551	c.5234A>C	c.(5233-5235)aAa>aCa	p.K1745T	RYR2_ENST00000360064.6_Missense_Mutation_p.K1743T|RYR2_ENST00000542537.1_Missense_Mutation_p.K1729T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1745	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K1743T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAACAAAAAACACGGCCTT	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											65	65	65					1																	237777662		2047	4199	6246	235844285	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5234A>C	1.37:g.237777662A>C	ENSP00000355533:p.Lys1745Thr		235844285	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852243	0.32699	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73897	-0.79;-0.79;-0.79	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000006	T	0.66809	0.2827	L	0.40543	1.245	0.80722	D	1	B	0.27498	0.18	B	0.27796	0.083	T	0.63010	-0.6732	10	0.25751	T	0.34	.	15.4979	0.75669	1.0:0.0:0.0:0.0	.	1745	Q92736	RYR2_HUMAN	T	1745;1743;1729	ENSP00000355533:K1745T;ENSP00000353174:K1743T;ENSP00000443798:K1729T	ENSP00000353174:K1743T	K	+	2	0	RYR2	235844285	1.000000	0.71417	0.967000	0.41034	0.838000	0.47535	4.533000	0.60615	2.073000	0.62155	0.528000	0.53228	AAA		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237777662	A	C	237777662	3	2	148	1	0	0	0	0	1	0	0	0	13772	14	1	5	5380	5	RYR2	1	237777662	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	9333066	237777662	11472959	17	8133											
OR2C3	81472	genome.wustl.edu	37	1	247695179	247695179	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr1:247695179A>C	ENST00000366487.3	-	2	996	c.635T>G	c.(634-636)cTg>cGg	p.L212R	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L211R(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GATGAGCCCCAGAGGCAGGAC	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											90	87	88					1																	247695179		2203	4300	6503	245761802	SO:0001583	missense	81472			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.635T>G	1.37:g.247695179A>C	ENSP00000355443:p.Leu212Arg		245761802	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524413	0.44969	.	.	ENSG00000196242	ENST00000366487	T	0.49432	0.78	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.308092	0.17578	U	0.169222	T	0.76751	0.4031	H	0.97131	3.945	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.70608	-0.4825	10	0.87932	D	0	.	11.0234	0.47730	1.0:0.0:0.0:0.0	.	212	Q8N628	OR2C3_HUMAN	R	212	ENSP00000355443:L212R	ENSP00000355443:L212R	L	-	2	0	OR2C3	245761802	0.000000	0.05858	0.919000	0.36401	0.773000	0.43773	0.743000	0.26231	1.752000	0.51891	0.528000	0.53228	CTG		0.537	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		C	247695179	A	C	247695179	3	2	148	1	0	0	0	0	1	0	0	0	10993	188	7	5	331	5	OR2C3	1	247695179	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	9917517	247695179	1555442	18	8134											
TMEM131	23505	genome.wustl.edu	37	2	98430603	98430603	+	Splice_Site	SNP	A	A	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr2:98430603A>G	ENST00000186436.5	-	15	1676	c.1448T>C	c.(1447-1449)gTt>gCt	p.V483A		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	483						integral component of membrane (GO:0016021)		p.V370A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGTTGTGAACCTGAGAAAT	0.373																																																1	Substitution - Missense(1)	ovary(1)	2											87	81	83					2																	98430603		1875	4099	5974	97797035	SO:0001630	splice_region_variant	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1447-1T>C	2.37:g.98430603A>G			97797035		Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185318	0.57909	.	.	ENSG00000075568	ENST00000186436	T	0.39056	1.1	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.29908	0.895	0.80722	D	1	P	0.52316	0.952	P	0.44518	0.452	T	0.09079	-1.0691	10	0.32370	T	0.25	-16.7559	16.1667	0.81768	1.0:0.0:0.0:0.0	.	483	Q92545	TM131_HUMAN	A	483	ENSP00000186436:V483A	ENSP00000186436:V483A	V	-	2	0	TMEM131	97797035	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	8.528000	0.90598	2.210000	0.71456	0.533000	0.62120	GTT		0.373	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	Missense_Mutation	G	98430603	A	G	98430603	5	3	148	1	0	0	0	0	0	0	1	0	16044	57	2	4	4311	4	TMEM131	2	98430603	Splice_Site	SNP	A	TCGA-13-1507-01A-01W-0549-09		98430603	144768770	19	8135											
CHST10	9486	genome.wustl.edu	37	2	101014521	101014521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr2:101014521G>T	ENST00000264249.3	-	5	661	c.276C>A	c.(274-276)tgC>tgA	p.C92*	CHST10_ENST00000409701.1_Nonsense_Mutation_p.C92*|CHST10_ENST00000542617.1_Nonsense_Mutation_p.C140*	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	92					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)	p.C92*(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CATCATCCCTGCAGACGTTTC	0.527																																																1	Substitution - Nonsense(1)	ovary(1)	2											138	140	139					2																	101014521		2203	4300	6503	100380953	SO:0001587	stop_gained	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.276C>A	2.37:g.101014521G>T	ENSP00000264249:p.Cys92*		100380953	Q53T18	Nonsense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861171	0.91433	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.8109	19.5919	0.95518	0.0:0.0:1.0:0.0	.	.	.	.	X	92;140;92;92;92;140	.	ENSP00000264249:C92X	C	-	3	2	CHST10	100380953	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.343000	0.72986	2.628000	0.89032	0.655000	0.94253	TGC		0.527	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		T	101014521	G	T	101014521	4	4	148	1	0	0	0	0	0	1	0	0	3398	1311	46	3	806	3	CHST10	2	101014521	Nonsense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	2583918	101014521	142184852	20	8136											
ZC3H6	376940	genome.wustl.edu	37	2	113067586	113067586	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr2:113067586A>G	ENST00000409871.1	+	4	862	c.461A>G	c.(460-462)gAc>gGc	p.D154G	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D154G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	154							metal ion binding (GO:0046872)	p.D154G(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TACAGTGATGACAACTTTGGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											77	72	74					2																	113067586		1881	4113	5994	112784057	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.461A>G	2.37:g.113067586A>G	ENSP00000386764:p.Asp154Gly		112784057	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618229	0.46736	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15718	2.4;2.4	3.09	3.09	0.35607	.	1.025170	0.07767	N	0.951061	T	0.12817	0.0311	N	0.22421	0.69	0.33846	D	0.632094	P	0.34522	0.455	B	0.34093	0.175	T	0.20806	-1.0264	10	0.66056	D	0.02	-16.8445	7.9401	0.29952	1.0:0.0:0.0:0.0	.	154	P61129	ZC3H6_HUMAN	G	154;154;131	ENSP00000386764:D154G;ENSP00000340298:D154G	ENSP00000340298:D154G	D	+	2	0	ZC3H6	112784057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.476000	0.60216	1.671000	0.50874	0.459000	0.35465	GAC		0.363	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		G	113067586	A	G	113067586	3	3	148	1	0	0	0	0	1	0	0	0	17571	275	10	4	475	4	ZC3H6	2	113067586	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	12053065	113067586	130131787	21	8137											
ANKRD44	91526	genome.wustl.edu	37	2	197870559	197870559	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr2:197870559C>T	ENST00000328737.2	-	21	2207	c.2131G>A	c.(2131-2133)Ggg>Agg	p.G711R	ANKRD44_ENST00000450567.1_Missense_Mutation_p.G711R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.G728R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.G711R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	736								p.G551W(1)|p.G711R(1)|p.G711W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGCGTCCTCCCTCTGGAATCT	0.483																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	2											184	179	180					2																	197870559		2203	4300	6503	197578804	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2131G>A	2.37:g.197870559C>T	ENSP00000331516:p.Gly711Arg		197578804	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	C	33	5.196928	0.94960	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.94268	0.8159	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94793	0.7964	10	0.87932	D	0	.	18.8054	0.92035	0.0:1.0:0.0:0.0	.	754	Q8N8A2-2	.	R	551;728;711;711;711	ENSP00000403415:G551R;ENSP00000282272:G728R;ENSP00000331516:G711R;ENSP00000402420:G711R;ENSP00000338794:G711R	ENSP00000282272:G728R	G	-	1	0	ANKRD44	197578804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	GGG		0.483	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		T	197870559	C	T	197870559	3	4	148	1	0	0	0	0	1	0	0	0	672	681	24	2	652	2	ANKRD44	2	197870559	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	84802973	197870559	45328814	22	8138											
LMCD1	29995	genome.wustl.edu	37	3	8609162	8609162	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr3:8609162C>G	ENST00000157600.3	+	6	1208	c.976C>G	c.(976-978)Ctg>Gtg	p.L326V	LMCD1_ENST00000397386.3_Missense_Mutation_p.L214V|LMCD1_ENST00000454244.1_Missense_Mutation_p.L253V|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	326	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L326V(1)		breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TGTGGAAGATCTGGCCTGGCA	0.547																																																1	Substitution - Missense(1)	ovary(1)	3											259	247	251					3																	8609162		2203	4300	6503	8584162	SO:0001583	missense	29995			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.976C>G	3.37:g.8609162C>G	ENSP00000157600:p.Leu326Val		8584162	B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714933	0.48622	.	.	ENSG00000071282	ENST00000157600;ENST00000454244;ENST00000397386	D;D;D	0.87491	-2.26;-2.26;-2.26	5.52	3.72	0.42706	Zinc finger, LIM-type (5);	0.394587	0.21403	N	0.075115	T	0.78483	0.4290	N	0.25485	0.75	0.26932	N	0.966448	P;P	0.43578	0.629;0.811	B;B	0.44044	0.439;0.433	T	0.70417	-0.4877	10	0.49607	T	0.09	-20.0772	3.3484	0.07143	0.1372:0.5764:0.1333:0.1532	.	214;326	B4DEY6;Q9NZU5	.;LMCD1_HUMAN	V	326;253;214	ENSP00000157600:L326V;ENSP00000396515:L253V;ENSP00000380542:L214V	ENSP00000157600:L326V	L	+	1	2	LMCD1	8584162	0.211000	0.23529	1.000000	0.80357	0.995000	0.86356	0.740000	0.26188	0.802000	0.34089	0.591000	0.81541	CTG		0.547	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		G	8609162	C	G	8609162	3	3	148	1	0	0	0	0	1	0	0	0	8844	912	32	3	998	3	LMCD1	3	8609162	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09		8609162	189413268	23	8139											
RAD18	56852	genome.wustl.edu	37	3	8923063	8923063	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr3:8923063C>G	ENST00000264926.2	-	13	1582	c.1466G>C	c.(1465-1467)aGa>aCa	p.R489T		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	489					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)	p.R489T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ACGCTTGTTTCTTGGTTCAAT	0.383								Rad6 pathway																																								1	Substitution - Missense(1)	ovary(1)	3											175	166	169					3																	8923063		2203	4300	6503	8898063	SO:0001583	missense	56852				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1466G>C	3.37:g.8923063C>G	ENSP00000264926:p.Arg489Thr		8898063	Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035668	0.54896	.	.	ENSG00000070950	ENST00000264926	T	0.38401	1.14	4.54	4.54	0.55810	.	0.098347	0.44097	D	0.000486	T	0.26557	0.0649	L	0.27053	0.805	0.37575	D	0.919574	B	0.32573	0.376	B	0.30401	0.115	T	0.31447	-0.9943	10	0.87932	D	0	-17.4904	13.0067	0.58710	0.0:1.0:0.0:0.0	.	489	Q9NS91	RAD18_HUMAN	T	489	ENSP00000264926:R489T	ENSP00000264926:R489T	R	-	2	0	RAD18	8898063	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	3.167000	0.50793	2.518000	0.84900	0.655000	0.94253	AGA		0.383	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		G	8923063	C	G	8923063	3	3	148	1	0	0	0	0	1	0	0	0	12983	913	32	3	25	3	RAD18	3	8923063	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	313901	8923063	189099367	24	8140											
MLH1	4292	genome.wustl.edu	37	3	37053324	37053324	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr3:37053324A>T	ENST00000231790.2	+	7	775	c.559A>T	c.(559-561)Aat>Tat	p.N187Y	MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.N89Y|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	187					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.N187Y(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTCAGTACACAATGCAGGCAT	0.328		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(2)	3											183	198	193					3																	37053324		2203	4300	6503	37028328	SO:0001583	missense	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.559A>T	3.37:g.37053324A>T	ENSP00000231790:p.Asn187Tyr		37028328	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268271	0.80469	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176	D;D	0.90504	-2.68;-2.68	6.08	6.08	0.98989	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	L	0.42487	1.325	0.80722	D	1	D;D;P	0.89917	0.97;1.0;0.931	P;D;P	0.77557	0.77;0.99;0.688	D	0.93972	0.7250	10	0.72032	D	0.01	-28.5752	16.6438	0.85155	1.0:0.0:0.0:0.0	.	89;187;187	E9PCU2;Q53GX1;P40692	.;.;MLH1_HUMAN	Y	187;153;153;51;89	ENSP00000231790:N187Y;ENSP00000402564:N89Y	ENSP00000231790:N187Y	N	+	1	0	MLH1	37028328	0.996000	0.38824	1.000000	0.80357	0.910000	0.53928	2.878000	0.48515	2.333000	0.79357	0.533000	0.62120	AAT		0.328	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		T	37053324	A	T	37053324	3	4	148	1	0	0	0	0	1	0	0	0	9617	130	5	5	585	5	MLH1	3	37053324	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	28130261	37053324	160969106	25	8141											
RPN1	6184	genome.wustl.edu	37	3	128350847	128350848	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	-	-	-	T	-	-	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr3:128350847_128350848insT	ENST00000296255.3	-	4	834_835	c.786_787insA	c.(784-789)tcacgcfs	p.R263fs	RPN1_ENST00000497289.1_Frame_Shift_Ins_p.R91fs	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	263					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)	p.R263fs*3(1)|p.R263C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TAATCATAGCGTGAGAAAGGCC	0.441			T	EVI1	AML																																		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	2	Substitution - Missense(1)|Insertion - Frameshift(1)	ovary(1)|lung(1)	3																																								129833538	SO:0001589	frameshift_variant	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.787dupA	3.37:g.128350848_128350848dupT	ENSP00000296255:p.Arg263fs		129833537	B2R5Z0|D3DNB6|Q68DT1	Frame_Shift_Ins	INS	ENST00000296255.3	37	CCDS3051.1																																																																																				0.441	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		T	128350848	-	T	128350847	7	5	148	1	0	1	1	0	0	0	0	0	13610	1145	40	0	1064	0	RPN1	3	128350847	Frame_Shift_Ins	INS	-	TCGA-13-1507-01A-01W-0549-09	91297523	128350847	69671583	26	8142											
SLC9A9	285195	genome.wustl.edu	37	3	143515741	143515741	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr3:143515741G>A	ENST00000316549.6	-	3	591	c.383C>T	c.(382-384)aCa>aTa	p.T128I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	128					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.T128I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TGGATCAAATGTCATCTGCCA	0.313																																																1	Substitution - Missense(1)	ovary(1)	3											56	61	59					3																	143515741		2203	4299	6502	144998431	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.383C>T	3.37:g.143515741G>A	ENSP00000320246:p.Thr128Ile		144998431	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318813	0.81469	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.21734	1.99	5.4	5.4	0.78164	Cation/H+ exchanger (1);	0.170876	0.39909	N	0.001221	T	0.44117	0.1278	L	0.53729	1.69	0.54753	D	0.999981	D	0.76494	0.999	D	0.85130	0.997	T	0.26985	-1.0087	10	0.62326	D	0.03	.	17.9469	0.89042	0.0:0.0:1.0:0.0	.	128	Q8IVB4	SL9A9_HUMAN	I	128;11	ENSP00000320246:T128I	ENSP00000320246:T128I	T	-	2	0	SLC9A9	144998431	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.293000	0.72731	2.524000	0.85096	0.637000	0.83480	ACA		0.313	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		A	143515741	G	A	143515741	3	1	148	1	0	0	0	0	1	0	0	0	14724	1377	48	2	1610	2	SLC9A9	3	143515741	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	15164894	143515741	54506689	27	8143											
SLC33A1	9197	genome.wustl.edu	37	3	155560290	155560290	+	Silent	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr3:155560290G>A	ENST00000392845.3	-	2	1274	c.894C>T	c.(892-894)taC>taT	p.Y298Y	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Silent_p.Y298Y			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	298					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.Y298Y(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAAGCAGCTTGTAAGTATCTG	0.313																																																1	Substitution - coding silent(1)	ovary(1)	3											88	79	82					3																	155560290		2203	4297	6500	157042984	SO:0001819	synonymous_variant	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.894C>T	3.37:g.155560290G>A			157042984	B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	CCDS3173.1																																																																																				0.313	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		A	155560290	G	A	155560290	2	1	148	1	0	0	0	0	0	0	0	1	14569	1372	48	2		2	SLC33A1	3	155560290	Silent	SNP	G	TCGA-13-1507-01A-01W-0549-09	12044549	155560290	42462140	28	8144											
KCNAB1	7881	genome.wustl.edu	37	3	156009909	156009909	+	Intron	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr3:156009909G>A	ENST00000490337.1	+	2	339				KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.M71I|KCNAB1_ENST00000302490.8_Missense_Mutation_p.M71I	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.M71I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGACTGGCATGAAATATAGGT	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											61	56	58					3																	156009909		2203	4300	6503	157492603	SO:0001627	intron_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129496G>A	3.37:g.156009909G>A			157492603	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001255	0.93227	.	.	ENSG00000169282	ENST00000302490;ENST00000389634	T;T	0.57907	0.37;0.37	5.28	5.28	0.74379	.	0.040000	0.85682	D	0.000000	T	0.55705	0.1937	.	.	.	0.80722	D	1	B;B	0.31413	0.322;0.114	B;B	0.36666	0.23;0.086	T	0.59685	-0.7408	9	0.87932	D	0	.	18.5064	0.90898	0.0:0.0:1.0:0.0	.	71;71	F8W6W4;B3KPZ4	.;.	I	71	ENSP00000305858:M71I;ENSP00000374285:M71I	ENSP00000305858:M71I	M	+	3	0	KCNAB1	157492603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.675000	0.98638	2.479000	0.83701	0.557000	0.71058	ATG		0.507	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		A	156009909	G	A	156009909	1	1	148	0	1	0	0	0	0	0	0	0	8009	1290	45	2		2	KCNAB1	3	156009909	Intron	SNP	G	TCGA-13-1507-01A-01W-0549-09	449619	156009909	42012521	29	8145											
SYNPO2	171024	genome.wustl.edu	37	4	119952995	119952995	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr4:119952995C>T	ENST00000429713.2	+	4	3247	c.3065C>T	c.(3064-3066)tCg>tTg	p.S1022L	SYNPO2_ENST00000307142.4_Missense_Mutation_p.S1022L|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S1022L|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	1022						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.S1022L(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGCAGGCTTCGTCAGTGTAC	0.572																																																1	Substitution - Missense(1)	ovary(1)	4											101	85	91					4																	119952995		2203	4300	6503	120172443	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.3065C>T	4.37:g.119952995C>T	ENSP00000395143:p.Ser1022Leu		120172443	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786017	0.49997	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.09630	2.96;2.97;2.97	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000016	T	0.28699	0.0711	M	0.63428	1.95	0.53688	D	0.999971	D;P;D;P	0.71674	0.996;0.803;0.998;0.806	P;B;P;B	0.60473	0.758;0.095;0.875;0.316	T	0.00655	-1.1624	9	.	.	.	-8.0152	18.706	0.91639	0.0:1.0:0.0:0.0	.	1022;1022;1022;1022	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	L	1022	ENSP00000306015:S1022L;ENSP00000395143:S1022L;ENSP00000390965:S1022L	.	S	+	2	0	SYNPO2	120172443	0.006000	0.16342	0.575000	0.28536	0.591000	0.36615	1.848000	0.39309	2.417000	0.82017	0.655000	0.94253	TCG		0.572	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			T	119952995	C	T	119952995	3	4	148	1	0	0	0	0	1	0	0	0	15457	893	31	1	3079	1	SYNPO2	4	119952995	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09		119952995	71201281	30	8146											
FGB	2244	genome.wustl.edu	37	4	155491581	155491581	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr4:155491581G>T	ENST00000302068.4	+	8	1318	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.D200Y	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	419	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.D419Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTTAACATCAGATCCCAGAAA	0.423																																					NSCLC(106;1133 1613 21870 46110 52656)											1	Substitution - Missense(1)	ovary(1)	4											91	81	85					4																	155491581		2203	4300	6503	155711031	SO:0001583	missense	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1255G>T	4.37:g.155491581G>T	ENSP00000306099:p.Asp419Tyr		155711031	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167181	0.57476	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.81247	-1.47;-1.47	5.62	5.62	0.85841	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.043120	0.85682	D	0.000000	D	0.89455	0.6720	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89575	0.3816	10	0.87932	D	0	.	20.0281	0.97530	0.0:0.0:1.0:0.0	.	402;419	B4E1D3;P02675	.;FIBB_HUMAN	Y	419;402;200	ENSP00000306099:D419Y;ENSP00000426757:D200Y	ENSP00000306099:D419Y	D	+	1	0	FGB	155711031	1.000000	0.71417	0.996000	0.52242	0.034000	0.12701	9.310000	0.96267	2.818000	0.97014	0.655000	0.94253	GAT		0.423	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		T	155491581	G	T	155491581	3	4	148	1	0	0	0	0	1	0	0	0	5831	942	33	3	1285	3	FGB	4	155491581	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	35538586	155491581	35662695	31	8147											
LPCAT1	79888	genome.wustl.edu	37	5	1463851	1463851	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr5:1463851G>A	ENST00000283415.3	-	14	1652	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	507					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.A507V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGGGATTGGCGCAGGTGAGGT	0.557																																																1	Substitution - Missense(1)	ovary(1)	5											99	99	99					5																	1463851		2203	4300	6503	1516851	SO:0001583	missense	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1520C>T	5.37:g.1463851G>A	ENSP00000283415:p.Ala507Val		1516851	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833700	0.32421	.	.	ENSG00000153395	ENST00000283415	T	0.70749	-0.51	4.23	1.25	0.21368	.	0.751394	0.12640	N	0.451412	T	0.43897	0.1268	L	0.27053	0.805	0.09310	N	1	P	0.42620	0.785	B	0.25140	0.058	T	0.29336	-1.0015	10	0.33141	T	0.24	-7.4202	3.4963	0.07655	0.0969:0.1676:0.5627:0.1728	.	507	Q8NF37	PCAT1_HUMAN	V	507	ENSP00000283415:A507V	ENSP00000283415:A507V	A	-	2	0	LPCAT1	1516851	0.046000	0.20272	0.000000	0.03702	0.003000	0.03518	2.541000	0.45735	-0.067000	0.12976	0.561000	0.74099	GCG		0.557	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		A	1463851	G	A	1463851	3	1	148	1	0	0	0	0	1	0	0	0	8910	1087	38	1	88	1	LPCAT1	5	1463851	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09		1463851	179451409	32	8148											
NIPBL	25836	genome.wustl.edu	37	5	37026373	37026373	+	Missense_Mutation	SNP	A	A	G	rs199639172		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr5:37026373A>G	ENST00000282516.8	+	31	6251	c.5752A>G	c.(5752-5754)Act>Gct	p.T1918A	NIPBL_ENST00000448238.2_Missense_Mutation_p.T1918A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1918					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.T1918A(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTTTACTCCAACTCCACACAA	0.348													A|||	1	0.000199681	0	0	5008	,	,		18217	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5											58	55	56					5																	37026373		2203	4300	6503	37062130	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5752A>G	5.37:g.37026373A>G	ENSP00000282516:p.Thr1918Ala		37062130	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.98	3.272027	0.59649	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93189	-3.18;-3.18	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	L	0.47716	1.5	0.58432	D	0.999999	B;B	0.13145	0.002;0.007	B;B	0.13407	0.003;0.009	D	0.86246	0.1646	10	0.11485	T	0.65	-13.5668	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1918;1918	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	1918	ENSP00000282516:T1918A;ENSP00000406266:T1918A	ENSP00000282516:T1918A	T	+	1	0	NIPBL	37062130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.932000	0.92897	2.326000	0.78906	0.533000	0.62120	ACT		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	37026373	A	G	37026373	3	3	148	1	0	0	0	0	1	0	0	0	10428	43	2	4	5870	4	NIPBL	5	37026373	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	35562522	37026373	143888887	33	8149											
ZNF608	57507	genome.wustl.edu	37	5	123983883	123983883	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr5:123983883G>C	ENST00000306315.5	-	4	2629	c.2194C>G	c.(2194-2196)Ctg>Gtg	p.L732V	ZNF608_ENST00000504926.1_Missense_Mutation_p.L305V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	732							metal ion binding (GO:0046872)	p.L732V(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCACTTTTCAGTTTAGAGAGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	5											26	29	28					5																	123983883		2203	4300	6503	124011782	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2194C>G	5.37:g.123983883G>C	ENSP00000307746:p.Leu732Val		124011782	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482849	0.44147	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.45668	0.89;0.89	6.01	6.01	0.97437	.	0.316636	0.32357	N	0.006212	T	0.47691	0.1459	L	0.49350	1.555	0.40058	D	0.975865	D	0.56035	0.974	P	0.47402	0.546	T	0.24225	-1.0166	10	0.25751	T	0.34	-13.4973	20.5161	0.99213	0.0:0.0:1.0:0.0	.	732	Q9ULD9	ZN608_HUMAN	V	305;732	ENSP00000427657:L305V;ENSP00000307746:L732V	ENSP00000307746:L732V	L	-	1	2	ZNF608	124011782	1.000000	0.71417	0.879000	0.34478	0.895000	0.52256	5.001000	0.63946	2.852000	0.98041	0.643000	0.83706	CTG		0.473	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		C	123983883	G	C	123983883	3	2	148	1	0	0	0	0	1	0	0	0	18034	1020	36	3	2368	3	ZNF608	5	123983883	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	86957510	123983883	56931377	34	8150											
KDM3B	51780	genome.wustl.edu	37	5	137727944	137727944	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr5:137727944C>A	ENST00000314358.5	+	8	2823	c.2623C>A	c.(2623-2625)Ctg>Atg	p.L875M	KDM3B_ENST00000394866.1_Missense_Mutation_p.L531M|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	875					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.L875M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GACTGCCCCCCTGAAAGGTGA	0.602																																																1	Substitution - Missense(1)	ovary(1)	5																																								137755843	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2623C>A	5.37:g.137727944C>A	ENSP00000326563:p.Leu875Met		137755843	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586790	0.46110	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.72282	-0.08;-0.64	5.97	2.07	0.26955	.	0.071914	0.56097	D	0.000024	T	0.72095	0.3418	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.997;0.998	D;P	0.65010	0.931;0.896	T	0.66236	-0.5974	10	0.33940	T	0.23	-14.1594	10.452	0.44528	0.0:0.733:0.0:0.267	.	531;875	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	M	875;665;531	ENSP00000326563:L875M;ENSP00000378335:L531M	ENSP00000326563:L875M	L	+	1	2	KDM3B	137755843	0.663000	0.27448	0.980000	0.43619	0.992000	0.81027	0.390000	0.20768	0.088000	0.17205	0.655000	0.94253	CTG		0.602	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		A	137727944	C	A	137727944	3	1	148	1	0	0	0	0	1	0	0	0	8127	680	24	3	2653	3	KDM3B	5	137727944	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	13744061	137727944	43187316	35	8151											
PCDH1	5097	genome.wustl.edu	37	5	141243662	141243662	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr5:141243662T>A	ENST00000394536.3	-	3	2373	c.2234A>T	c.(2233-2235)gAc>gTc	p.D745V	PCDH1_ENST00000456271.1_Missense_Mutation_p.D733V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.D723V|PCDH1_ENST00000287008.3_Missense_Mutation_p.D745V|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	745	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D745V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GACACCAGAGTCAAAGTCCTC	0.552																																					Ovarian(132;1609 1739 4190 14731 45037)											1	Substitution - Missense(1)	ovary(1)	5											67	64	65					5																	141243662		2203	4300	6503	141223846	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2234A>T	5.37:g.141243662T>A	ENSP00000378043:p.Asp745Val		141223846	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	t	16.93	3.257138	0.59321	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000043	D	0.92378	0.7581	H	0.99659	4.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95172	0.8291	10	0.87932	D	0	.	13.3964	0.60856	0.0:0.0:0.0:1.0	.	745;745	Q08174;Q08174-2	PCDH1_HUMAN;.	V	745;745;733;756;723	ENSP00000287008:D745V;ENSP00000378043:D745V;ENSP00000403497:D733V;ENSP00000350122:D756V;ENSP00000438825:D723V	ENSP00000287008:D745V	D	-	2	0	PCDH1	141223846	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.988000	0.88194	2.060000	0.61445	0.375000	0.23000	GAC		0.552	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		A	141243662	T	A	141243662	3	1	148	1	0	0	0	0	1	0	0	0	11506	1667	58	5	1575	5	PCDH1	5	141243662	Missense_Mutation	SNP	T	TCGA-13-1507-01A-01W-0549-09	3515718	141243662	39671598	36	8152											
MICB	4277	genome.wustl.edu	37	6	31465979	31465980	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	GG	GG	GG	TT	GG	GG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr6:31465979_31465980GG>TT	ENST00000252229.6	+	1	88_89	c.9_10GG>TT	c.(7-12)ctGGgc>ctTTgc	p.G4C	MICB_ENST00000538442.1_Intron|Y_RNA_ENST00000383850.1_RNA|MICB_ENST00000427115.1_Missense_Mutation_p.G4C|MICB_ENST00000399150.3_Missense_Mutation_p.G4C	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CCATGGGGCTGGGCCGGGTCCT	0.668																																																0			6																																								31573959	SO:0001583	missense	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	Exception_encountered	6.37:g.31465979_31465980delinsTT	ENSP00000252229:p.Gly4Cys		31573958		Missense_Mutation	DNP	ENST00000252229.6	37	CCDS43449.1																																																																																				0.668	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		TT	31465980	GG	TT	31465979	3	4	148	1	0	0	0	0	1	0	0	0	9575	1335	47	3	11	3	MICB	6	31465979	Missense_Mutation	DNP	GG	TCGA-13-1507-01A-01W-0549-09		31465979	139649088	37	8153											
BACH2	60468	genome.wustl.edu	37	6	90642163	90642163	+	Silent	SNP	A	A	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr6:90642163A>G	ENST00000257749.4	-	9	3197	c.2490T>C	c.(2488-2490)tgT>tgC	p.C830C	BACH2_ENST00000343122.3_Silent_p.C830C|BACH2_ENST00000537989.1_Silent_p.C830C	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	830						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.C830C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGTCAGTTGTACACTTATCAG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	6											249	255	253					6																	90642163		2203	4300	6503	90698884	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2490T>C	6.37:g.90642163A>G			90698884	E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	CCDS5026.1																																																																																				0.547	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		G	90642163	A	G	90642163	2	3	148	1	0	0	0	0	0	0	0	1	1284	389	14	4		4	BACH2	6	90642163	Silent	SNP	A	TCGA-13-1507-01A-01W-0549-09	59176184	90642163	80472904	38	8154											
SLC22A3	6581	genome.wustl.edu	37	6	160872083	160872083	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr6:160872083C>T	ENST00000275300.2	+	11	1818	c.1666C>T	c.(1666-1668)Ctt>Ttt	p.L556F	SLC22A3_ENST00000392145.1_Missense_Mutation_p.L557F	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	556					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)	p.L556F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CCGCTCTCACCTTTGAGGCCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											40	36	37					6																	160872083		2202	4300	6502	160792073	SO:0001583	missense	6581			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1666C>T	6.37:g.160872083C>T	ENSP00000275300:p.Leu556Phe		160792073	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	c	8.891	0.954078	0.18431	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.74421	-0.84;-0.84	4.59	2.54	0.30619	.	0.416519	0.20374	N	0.093600	T	0.32255	0.0823	N	0.08118	0	0.20403	N	0.999905	B	0.34015	0.435	B	0.32533	0.147	T	0.12967	-1.0527	10	0.66056	D	0.02	.	6.7092	0.23268	0.182:0.5279:0.2901:0.0	.	556	O75751	S22A3_HUMAN	F	556;557	ENSP00000275300:L556F;ENSP00000375989:L557F	ENSP00000275300:L556F	L	+	1	0	SLC22A3	160792073	0.946000	0.32159	0.918000	0.36340	0.116000	0.19942	0.238000	0.18004	1.149000	0.42402	0.561000	0.74099	CTT		0.458	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		T	160872083	C	T	160872083	3	4	148	1	0	0	0	0	1	0	0	0	14458	681	24	2	1708	2	SLC22A3	6	160872083	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	70229920	160872083	10242984	39	8155											
ZNF479	90827	genome.wustl.edu	37	7	57188077	57188077	+	Missense_Mutation	SNP	T	T	C	rs560371254	byFrequency	TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr7:57188077T>C	ENST00000331162.4	-	5	1315	c.1045A>G	c.(1045-1047)Aga>Gga	p.R349G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R349G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGTTTCTCTCTAGTATGAATT	0.438													.|||	3	0.000599042	0	0.0029	5008	,	,		21578	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7																																								57192019	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1045A>G	7.37:g.57188077T>C	ENSP00000333776:p.Arg349Gly		57192019		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.820834	0.00595	.	.	ENSG00000185177	ENST00000331162	T	0.11495	2.77	0.946	-0.24	0.13047	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	N	0.00265	-1.74	0.22745	N	0.998782	B	0.02656	0.0	B	0.01281	0.0	T	0.35992	-0.9766	9	0.02654	T	1	.	6.684	0.23134	0.0:0.7699:0.0:0.2301	.	349	Q96JC4	ZN479_HUMAN	G	349	ENSP00000333776:R349G	ENSP00000333776:R349G	R	-	1	2	ZNF479	57192019	0.003000	0.15002	0.015000	0.15790	0.013000	0.08279	1.442000	0.35046	-2.200000	0.00747	-2.221000	0.00296	AGA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		C	57188077	T	C	57188077	3	2	148	1	0	0	0	0	1	0	0	0	17933	1530	53	4	533	4	ZNF479	7	57188077	Missense_Mutation	SNP	T	TCGA-13-1507-01A-01W-0549-09		57188077	101950586	40	8156											
MYL10	93408	genome.wustl.edu	37	7	101267528	101267528	+	Missense_Mutation	SNP	C	C	T	rs143165987		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr7:101267528C>T	ENST00000223167.4	-	2	272	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	32						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R32Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TGCTCTTTTCCGAGCTCTTCT	0.612																																					Esophageal Squamous(24;575 709 17516 40384 51639)											1	Substitution - Missense(1)	ovary(1)	7						C	GLN/ARG	0,4406		0,0,2203	113	109	111		95	3.6	1	7	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYL10	NM_138403.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	32/227	101267528	1,13005	2203	4300	6503	101054248	SO:0001583	missense	93408			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.95G>A	7.37:g.101267528C>T	ENSP00000223167:p.Arg32Gln		101054248		Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653938	0.67472	0.0	1.16E-4	ENSG00000106436	ENST00000223167	T	0.72505	-0.66	4.71	3.56	0.40772	.	0.088290	0.42964	D	0.000638	T	0.57066	0.2028	L	0.46157	1.445	0.29288	N	0.869536	P	0.43169	0.8	B	0.38755	0.281	T	0.61628	-0.7024	10	0.62326	D	0.03	.	4.1434	0.10205	0.0:0.6769:0.0:0.3231	.	32	Q9BUA6	MYL10_HUMAN	Q	32	ENSP00000223167:R32Q	ENSP00000223167:R32Q	R	-	2	0	MYL10	101054248	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	5.783000	0.68982	2.339000	0.79563	0.561000	0.74099	CGG		0.612	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		T	101267528	C	T	101267528	3	4	148	1	0	0	0	0	1	0	0	0	10044	652	23	1	613	1	MYL10	7	101267528	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	44079451	101267528	57871135	41	8157											
EXOC4	60412	genome.wustl.edu	37	7	133602392	133602392	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr7:133602392A>G	ENST00000253861.4	+	13	1957	c.1928A>G	c.(1927-1929)gAt>gGt	p.D643G	EXOC4_ENST00000545148.1_Missense_Mutation_p.D253G|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000539845.1_Missense_Mutation_p.D542G	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	643					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.D643G(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCAAAAGATGATGATATCAGC	0.428																																																1	Substitution - Missense(1)	ovary(1)	7											160	148	152					7																	133602392		2203	4300	6503	133252932	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1928A>G	7.37:g.133602392A>G	ENSP00000253861:p.Asp643Gly		133252932	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.938064	0.73557	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	4.91	4.91	0.64330	.	0.053291	0.64402	D	0.000001	T	0.53850	0.1822	L	0.38175	1.15	0.80722	D	1	B;B;B	0.28055	0.029;0.199;0.007	B;B;B	0.31101	0.009;0.124;0.006	T	0.52366	-0.8585	9	0.33940	T	0.23	.	14.8347	0.70175	1.0:0.0:0.0:0.0	.	175;253;643	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	G	643;262;542;253	.	ENSP00000253861:D643G	D	+	2	0	EXOC4	133252932	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.545000	0.90657	1.966000	0.57179	0.460000	0.39030	GAT		0.428	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		G	133602392	A	G	133602392	3	3	148	1	0	0	0	0	1	0	0	0	5306	333	12	4	1987	4	EXOC4	7	133602392	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	32334864	133602392	25536271	42	8158											
RBM33	155435	genome.wustl.edu	37	7	155537869	155537869	+	Nonsense_Mutation	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr7:155537869C>G	ENST00000401878.3	+	14	2750	c.2552C>G	c.(2551-2553)tCa>tGa	p.S851*	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	851							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S851*(1)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CTGTCACCATCACCCACCAAC	0.542																																																1	Substitution - Nonsense(1)	ovary(1)	7											59	44	49					7																	155537869		2203	4300	6503	155230630	SO:0001587	stop_gained	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2552C>G	7.37:g.155537869C>G	ENSP00000384160:p.Ser851*		155230630	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Nonsense_Mutation	SNP	ENST00000401878.3	37	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.736030|4.736030	0.89482|0.89482	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878	.|.	.|.	.|.	5.95|5.95	3.21|3.21	0.36854|0.36854	.|.	.|0.696198	.|0.13112	.|N	.|0.412914	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.28964|.	-1.0027|.	4|.	.|0.11182	.|T	.|0.66	.|.	5.3522|5.3522	0.16042|0.16042	0.1265:0.541:0.0:0.3325|0.1265:0.541:0.0:0.3325	.|.	.|.	.|.	.|.	D|X	623|851	.|.	.|ENSP00000384160:S851X	H|S	+|+	1|2	0|0	RBM33|RBM33	155230630|155230630	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.065000|0.065000	0.16274|0.16274	0.217000|0.217000	0.17603|0.17603	0.428000|0.428000	0.26173|0.26173	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.542	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		G	155537869	C	G	155537869	4	3	148	1	0	0	0	0	0	1	0	0	13133	838	29	3	2606	3	RBM33	7	155537869	Nonsense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	21935477	155537869	3600794	43	8159											
MATN2	4147	genome.wustl.edu	37	8	99039928	99039928	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr8:99039928G>T	ENST00000520016.1	+	13	2351	c.2227G>T	c.(2227-2229)Gag>Tag	p.E743*	MATN2_ENST00000521689.1_Nonsense_Mutation_p.E743*|MATN2_ENST00000524308.1_Nonsense_Mutation_p.E702*|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000522025.2_Nonsense_Mutation_p.E459*|MATN2_ENST00000254898.5_Nonsense_Mutation_p.E743*			O00339	MATN2_HUMAN	matrilin 2	743	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E743*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACACATGTTTGAGAGAAGTTT	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	8											46	46	46					8																	99039928		1871	4104	5975	99109104	SO:0001587	stop_gained	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2227G>T	8.37:g.99039928G>T	ENSP00000430487:p.Glu743*		99109104	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Nonsense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.584154|6.584154	0.97684|0.97684	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154;ENST00000517321	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.56958|.	D|.	0.05|.	-31.1363|-31.1363	19.1881|19.1881	0.93653|0.93653	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	743;743;702;702;459;743|525;176	.|.	ENSP00000254898:E743X|.	E|X	+|+	1|2	0|2	MATN2|MATN2	99109104|99109104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.920000|3.920000	0.56446|0.56446	2.602000|2.602000	0.87976|0.87976	0.555000|0.555000	0.69702|0.69702	GAG|TGA		0.532	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	99039928	G	T	99039928	4	4	148	1	0	0	0	0	0	1	0	0	9334	1291	45	3	2277	3	MATN2	8	99039928	Nonsense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09		99039928	47324094	44	8160											
PKHD1L1	93035	genome.wustl.edu	37	8	110457743	110457743	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr8:110457743G>A	ENST00000378402.5	+	38	5749	c.5645G>A	c.(5644-5646)tGc>tAc	p.C1882Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1882	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C1884Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGTCTACTGCCGCACTCCC	0.438										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	ovary(1)	8											48	48	48					8																	110457743		1918	4142	6060	110526919	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5645G>A	8.37:g.110457743G>A	ENSP00000367655:p.Cys1882Tyr		110526919	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967065	0.53507	.	.	ENSG00000205038	ENST00000378402	D	0.83163	-1.69	5.91	5.91	0.95273	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	H	0.96633	3.855	0.50632	D	0.999887	D	0.89917	1.0	D	0.97110	1.0	D	0.95736	0.8779	10	0.87932	D	0	.	17.7921	0.88555	0.0:0.0:1.0:0.0	.	1882	Q86WI1	PKHL1_HUMAN	Y	1882	ENSP00000367655:C1882Y	ENSP00000367655:C1882Y	C	+	2	0	PKHD1L1	110526919	1.000000	0.71417	0.523000	0.27875	0.129000	0.20672	7.560000	0.82277	2.802000	0.96397	0.655000	0.94253	TGC		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110457743	G	A	110457743	3	1	148	1	0	0	0	0	1	0	0	0	11972	1319	46	2	5795	2	PKHD1L1	8	110457743	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	11417815	110457743	35906279	45	8161											
PGM5	5239	genome.wustl.edu	37	9	71080034	71080034	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr9:71080034G>T	ENST00000396396.1	+	7	1298	c.1069G>T	c.(1069-1071)Gta>Tta	p.V357L	PGM5_ENST00000396392.1_Missense_Mutation_p.V357L	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	357					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.V357L(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GAAGGTCCCTGTATATGAGAC	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											147	138	141					9																	71080034		2203	4300	6503	70269854	SO:0001583	missense	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1069G>T	9.37:g.71080034G>T	ENSP00000379678:p.Val357Leu		70269854	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	9.543	1.113870	0.20795	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.39787	1.06;1.06	5.87	5.87	0.94306	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.062805	0.64402	D	0.000005	T	0.26011	0.0634	N	0.05177	-0.1	0.58432	D	0.999996	B	0.06786	0.001	B	0.13407	0.009	T	0.10132	-1.0643	10	0.17832	T	0.49	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	357	Q15124	PGM5_HUMAN	L	357	ENSP00000379678:V357L;ENSP00000379674:V357L	ENSP00000379674:V357L	V	+	1	0	PGM5	70269854	0.998000	0.40836	0.983000	0.44433	0.897000	0.52465	2.555000	0.45854	2.941000	0.99782	0.655000	0.94253	GTA		0.408	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		T	71080034	G	T	71080034	3	4	148	1	0	0	0	0	1	0	0	0	11801	1377	48	3	1095	3	PGM5	9	71080034	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09		71080034	70133397	46	8162											
C9orf135	138255	genome.wustl.edu	37	9	72435915	72435915	+	Silent	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr9:72435915G>A	ENST00000377197.3	+	1	207	c.120G>A	c.(118-120)aaG>aaA	p.K40K	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Silent_p.K40K|C9orf135-AS1_ENST00000439418.1_lincRNA	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	40						integral component of membrane (GO:0016021)		p.K40K(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CCCATCACAAGAAATACTCGA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	9											50	48	49					9																	72435915		2203	4300	6503	71625735	SO:0001819	synonymous_variant	138255				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.120G>A	9.37:g.72435915G>A			71625735	A7E2U4|B2RN61	Silent	SNP	ENST00000377197.3	37	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	G	8.896	0.955166	0.18507	.	.	ENSG00000204711	ENST00000480564	.	.	.	4.8	2.97	0.34412	.	.	.	.	.	T	0.55924	0.1951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48747	-0.9008	4	.	.	.	-10.1063	7.3843	0.26874	0.1963:0.0:0.8037:0.0	.	.	.	.	K	14	.	.	E	+	1	0	C9orf135	71625735	1.000000	0.71417	0.999000	0.59377	0.671000	0.39405	3.036000	0.49767	0.630000	0.30394	0.655000	0.94253	GAA		0.602	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		A	72435915	G	A	72435915	2	1	148	1	0	0	0	0	0	0	0	1	2458	933	33	2		2	C9orf135	9	72435915	Silent	SNP	G	TCGA-13-1507-01A-01W-0549-09	1355881	72435915	68777516	47	8163											
OR1Q1	158131	genome.wustl.edu	37	9	125377715	125377715	+	Silent	SNP	C	C	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr9:125377715C>T	ENST00000297913.2	+	1	768	c.699C>T	c.(697-699)ggC>ggT	p.G233G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	233					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G233G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CAGCCAAGGGCAGGTGGAAAA	0.552																																																1	Substitution - coding silent(1)	ovary(1)	9											103	102	103					9																	125377715		2203	4300	6503	124417536	SO:0001819	synonymous_variant	158131				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.699C>T	9.37:g.125377715C>T			124417536	Q6IFN4|Q8NGR7|Q96R82	Silent	SNP	ENST00000297913.2	37	CCDS35125.1																																																																																				0.552	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			T	125377715	C	T	125377715	2	4	148	1	0	0	0	0	0	0	0	1	10971	697	25	2		2	OR1Q1	9	125377715	Silent	SNP	C	TCGA-13-1507-01A-01W-0549-09	52941800	125377715	15835716	48	8164											
STXBP1	6812	genome.wustl.edu	37	9	130453129	130453129	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr9:130453129G>A	ENST00000373299.1	+	19	1893	c.1778G>A	c.(1777-1779)aGc>aAc	p.S593N	STXBP1_ENST00000481942.1_Intron|STXBP1_ENST00000373302.3_3'UTR|MIR3911_ENST00000577791.1_RNA	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	593					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.S593N(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GAAGAAATAAGCAGTTAAAAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	9											113	124	120					9																	130453129		2203	4300	6503	129492950	SO:0001583	missense	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1778G>A	9.37:g.130453129G>A	ENSP00000362396:p.Ser593Asn		129492950	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783246	0.49891	.	.	ENSG00000136854	ENST00000373299	T	0.74947	-0.89	5.18	4.25	0.50352	.	.	.	.	.	T	0.59932	0.2230	N	0.14661	0.345	0.20403	N	0.99991	B	0.25105	0.118	B	0.21151	0.033	T	0.56171	-0.8023	9	0.72032	D	0.01	.	13.555	0.61756	0.0:0.1687:0.8313:0.0	.	593	P61764	STXB1_HUMAN	N	593	ENSP00000362396:S593N	ENSP00000362396:S593N	S	+	2	0	STXBP1	129492950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.168000	0.58216	2.687000	0.91594	0.655000	0.94253	AGC		0.522	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		A	130453129	G	A	130453129	3	1	148	1	0	0	0	0	1	0	0	0	15354	971	34	2	1966	2	STXBP1	9	130453129	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	5075414	130453129	10760302	49	8165											
CCAR1	55749	genome.wustl.edu	37	10	70506999	70506999	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr10:70506999G>C	ENST00000265872.6	+	7	719	c.600G>C	c.(598-600)tgG>tgC	p.W200C	CCAR1_ENST00000543719.1_Missense_Mutation_p.W185C|CCAR1_ENST00000535016.1_Missense_Mutation_p.W185C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	200					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.W200C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTTTTAAATGGAATGCACAGA	0.338																																																1	Substitution - Missense(1)	ovary(1)	10											88	90	90					10																	70506999		2203	4300	6503	70177005	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.600G>C	10.37:g.70506999G>C	ENSP00000265872:p.Trp200Cys		70177005	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598440	0.66332	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012;ENST00000540807	T;T;T;T;T;T	0.66995	1.59;-0.08;-0.08;-0.0;-0.24;0.17	5.51	5.51	0.81932	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.82680	-0.0337	10	0.87932	D	0	-5.094	19.7838	0.96428	0.0:0.0:1.0:0.0	.	185;200;174	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	C	200;185;185;185;174;5;5	ENSP00000265872:W200C;ENSP00000441820:W185C;ENSP00000445254:W185C;ENSP00000439252:W185C;ENSP00000438610:W174C;ENSP00000439642:W5C	ENSP00000265872:W200C	W	+	3	0	CCAR1	70177005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.723000	0.98772	2.755000	0.94549	0.650000	0.86243	TGG		0.338	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		C	70506999	G	C	70506999	3	2	148	1	0	0	0	0	1	0	0	0	2730	1183	41	3	622	3	CCAR1	10	70506999	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09		70506999	65027748	50	8166											
LRRC4C	57689	genome.wustl.edu	37	11	40137584	40137584	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr11:40137584G>C	ENST00000278198.2	-	2	2222	c.259C>G	c.(259-261)Caa>Gaa	p.Q87E	LRRC4C_ENST00000530763.1_Missense_Mutation_p.Q87E|LRRC4C_ENST00000527150.1_Missense_Mutation_p.Q87E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.Q87E			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	87					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.Q87E(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCTGGATTTGGTTCTCATGG	0.468																																																1	Substitution - Missense(1)	ovary(1)	11											107	98	101					11																	40137584		2203	4300	6503	40094160	SO:0001583	missense	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.259C>G	11.37:g.40137584G>C	ENSP00000278198:p.Gln87Glu		40094160	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523692	0.27299	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04454	3.62;3.62;3.62;3.62	5.76	5.76	0.90799	.	0.062753	0.64402	D	0.000003	T	0.04770	0.0129	L	0.28458	0.855	0.46521	D	0.999089	B	0.17038	0.02	B	0.15052	0.012	T	0.24476	-1.0159	10	0.05525	T	0.97	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	87	Q9HCJ2	LRC4C_HUMAN	E	87	ENSP00000278198:Q87E;ENSP00000436976:Q87E;ENSP00000437132:Q87E;ENSP00000434761:Q87E	ENSP00000278198:Q87E	Q	-	1	0	LRRC4C	40094160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.855000	0.99526	2.719000	0.93026	0.650000	0.86243	CAA		0.468	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		C	40137584	G	C	40137584	3	2	148	1	0	0	0	0	1	0	0	0	9008	1357	47	3	1667	3	LRRC4C	11	40137584	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09		40137584	94868932	51	8167											
GLYATL2	219970	genome.wustl.edu	37	11	58604586	58604586	+	Missense_Mutation	SNP	A	A	T	rs201500483		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr11:58604586A>T	ENST00000287275.1	-	5	768	c.378T>A	c.(376-378)gaT>gaA	p.D126E	GLYATL2_ENST00000532258.1_Missense_Mutation_p.D126E|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	126						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)	p.D126E(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTTTCATGTAATCTACCTGCA	0.393																																																1	Substitution - Missense(1)	ovary(1)	11											196	174	181					11																	58604586		1884	4105	5989	58361162	SO:0001583	missense	219970			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.378T>A	11.37:g.58604586A>T	ENSP00000287275:p.Asp126Glu		58361162	A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.352559	0.24512	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.12774	2.65;2.65	3.14	-6.29	0.02013	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.816494	0.10469	U	0.670972	T	0.10423	0.0255	N	0.25890	0.77	0.09310	N	1	D	0.65815	0.995	P	0.60068	0.868	T	0.13791	-1.0496	10	0.06365	T	0.9	.	2.2562	0.04056	0.1911:0.4364:0.2284:0.1441	.	126	Q8WU03	GLYL2_HUMAN	E	126	ENSP00000287275:D126E;ENSP00000434277:D126E	ENSP00000287275:D126E	D	-	3	2	GLYATL2	58361162	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-2.379000	0.01067	-1.083000	0.03097	0.524000	0.50904	GAT		0.393	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		T	58604586	A	T	58604586	3	4	148	1	0	0	0	0	1	0	0	0	6481	98	4	5	514	5	GLYATL2	11	58604586	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	18467002	58604586	76401930	52	8168											
PLEKHB1	58473	genome.wustl.edu	37	11	73361656	73361656	+	Silent	SNP	G	G	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr11:73361656G>T	ENST00000354190.5	+	3	584	c.153G>T	c.(151-153)ctG>ctT	p.L51L	PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000398494.4_Silent_p.L32L|PLEKHB1_ENST00000543085.1_Intron|PLEKHB1_ENST00000227214.6_Silent_p.L32L|PLEKHB1_ENST00000535129.1_Silent_p.L32L|PLEKHB1_ENST00000398492.4_Silent_p.L51L	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	51	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.L51L(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						ACGGGACCCTGGGATACTACC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	11											42	46	45					11																	73361656		2113	4217	6330	73039304	SO:0001819	synonymous_variant	58473			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"Pleckstrin homology (PH) domain containing"	19079	protein-coding gene	gene with protein product		607651	"PH domain containing, retinal 1"	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.153G>T	11.37:g.73361656G>T			73039304	A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Silent	SNP	ENST00000354190.5	37	CCDS44672.1																																																																																				0.587	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			T	73361656	G	T	73361656	2	4	148	1	0	0	0	0	0	0	0	1	12064	1335	47	3		3	PLEKHB1	11	73361656	Silent	SNP	G	TCGA-13-1507-01A-01W-0549-09	14757070	73361656	61644860	53	8169											
RBM7	10179	genome.wustl.edu	37	11	114278229	114278229	+	Missense_Mutation	SNP	A	A	T	rs528095443		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr11:114278229A>T	ENST00000540163.1	+	5	1143	c.501A>T	c.(499-501)caA>caT	p.Q167H	RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000375490.5_Missense_Mutation_p.Q168H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q47H|RP11-212D19.4_ENST00000544347.1_Intron			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	167					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q167H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CTCTGGATCAATCAGGATTTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	11											103	101	101					11																	114278229		2201	4296	6497	113783439	SO:0001583	missense	10179			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"RNA binding motif (RRM) containing"	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.501A>T	11.37:g.114278229A>T	ENSP00000439918:p.Gln167His		113783439	B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	A	6.036	0.374970	0.11409	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.28666	1.6;2.62	5.75	-11.5	0.00074	.	0.302389	0.35349	N	0.003268	T	0.17109	0.0411	L	0.29908	0.895	0.25094	N	0.990836	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.005	T	0.05733	-1.0867	10	0.34782	T	0.22	-7.2817	17.0856	0.86611	0.7487:0.0719:0.1793:0.0	.	167;167	Q6IRX3;Q9Y580	.;RBM7_HUMAN	H	167;168;47	ENSP00000439918:Q167H;ENSP00000364639:Q168H	ENSP00000364639:Q168H	Q	+	3	2	RBM7	113783439	0.000000	0.05858	0.018000	0.16275	0.653000	0.38743	-2.039000	0.01418	-3.276000	0.00198	-1.162000	0.01777	CAA		0.408	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		T	114278229	A	T	114278229	3	4	148	1	0	0	0	0	1	0	0	0	13148	98	4	5	519	5	RBM7	11	114278229	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	40916573	114278229	20728287	54	8170											
C11orf63	79864	genome.wustl.edu	37	11	122830102	122830102	+	Silent	SNP	C	C	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr11:122830102C>T	ENST00000531316.1	+	8	2378	c.2286C>T	c.(2284-2286)caC>caT	p.H762H	C11orf63_ENST00000227349.2_Silent_p.H762H			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	762					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.H762H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAACAGACACGAAAGGGAAA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	11											96	89	91					11																	122830102		2202	4299	6501	122335312	SO:0001819	synonymous_variant	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.2286C>T	11.37:g.122830102C>T			122335312	A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	CCDS8438.1																																																																																				0.418	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		T	122830102	C	T	122830102	2	4	148	1	0	0	0	0	0	0	0	1	1654	535	19	1		1	C11orf63	11	122830102	Silent	SNP	C	TCGA-13-1507-01A-01W-0549-09	8551873	122830102	12176414	55	8171											
PARP11	57097	genome.wustl.edu	37	12	3921561	3921561	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr12:3921561T>C	ENST00000228820.4	-	8	889	c.745A>G	c.(745-747)Aaa>Gaa	p.K249E	PARP11_ENST00000476985.1_Intron|PARP11_ENST00000397096.2_Intron|PARP11_ENST00000427057.2_Missense_Mutation_p.K168E|PARP11_ENST00000447133.3_Missense_Mutation_p.K168E	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	242	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K242E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			ATGTCATCTTTGCAGAAACGA	0.378																																																1	Substitution - Missense(1)	ovary(1)	12											86	82	84					12																	3921561		2203	4300	6503	3791822	SO:0001583	missense	57097			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.745A>G	12.37:g.3921561T>C	ENSP00000228820:p.Lys249Glu		3791822	B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114940	0.77210	.	.	ENSG00000111224	ENST00000427057;ENST00000228820;ENST00000447133	T;T;T	0.14640	2.49;2.49;2.49	5.95	4.75	0.60458	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.092426	0.85682	D	0.000000	T	0.20700	0.0498	L	0.55481	1.735	0.41537	D	0.988497	B;P;P	0.42757	0.203;0.75;0.789	B;P;P	0.49361	0.142;0.473;0.608	T	0.01051	-1.1468	10	0.31617	T	0.26	.	11.0785	0.48047	0.0:0.0:0.155:0.845	.	168;249;242	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	E	168;249;168	ENSP00000397058:K168E;ENSP00000228820:K249E;ENSP00000405385:K168E	ENSP00000228820:K249E	K	-	1	0	PARP11	3791822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.841000	0.62824	2.281000	0.76405	0.528000	0.53228	AAA		0.378	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			C	3921561	T	C	3921561	3	2	148	1	0	0	0	0	1	0	0	0	11456	1821	63	4	275	4	PARP11	12	3921561	Missense_Mutation	SNP	T	TCGA-13-1507-01A-01W-0549-09		3921561	129930334	56	8172											
SLCO1B1	10599	genome.wustl.edu	37	12	21358822	21358822	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr12:21358822A>T	ENST00000256958.2	+	11	1448	c.1352A>T	c.(1351-1353)cAt>cTt	p.H451L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	451					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.H451L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTGACATCTCATAGAGATGTA	0.373																																																1	Substitution - Missense(1)	ovary(1)	12											97	94	95					12																	21358822		2203	4300	6503	21250089	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1352A>T	12.37:g.21358822A>T	ENSP00000256958:p.His451Leu		21250089	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634270	0.29068	.	.	ENSG00000134538	ENST00000256958	T	0.39056	1.1	4.06	-0.432	0.12291	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.517240	0.03380	N	0.200267	T	0.31358	0.0794	L	0.41124	1.26	0.09310	N	1	B	0.14805	0.011	B	0.18263	0.021	T	0.11616	-1.0580	10	0.13470	T	0.59	.	5.2215	0.15371	0.3418:0.4868:0.0:0.1714	.	451	Q9Y6L6	SO1B1_HUMAN	L	451	ENSP00000256958:H451L	ENSP00000256958:H451L	H	+	2	0	SLCO1B1	21250089	0.010000	0.17322	0.604000	0.28916	0.434000	0.31775	0.689000	0.25437	0.402000	0.25451	0.397000	0.26171	CAT		0.373	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		T	21358822	A	T	21358822	3	4	148	1	0	0	0	0	1	0	0	0	14726	217	8	5	1390	5	SLCO1B1	12	21358822	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	17437261	21358822	112493073	57	8173											
ATF1	466	genome.wustl.edu	37	12	51203255	51203255	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr12:51203255T>A	ENST00000262053.3	+	4	233	c.211T>A	c.(211-213)Tta>Ata	p.L71I	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	71	KID. {ECO:0000255|PROSITE- ProRule:PRU00312}.				cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L71I(1)	EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	TTTGAAAGACTTATCTTCTGA	0.323			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "																																		Dom	yes		12	12q13	466	activating transcription factor 1		"E, M"	1	Substitution - Missense(1)	ovary(1)	12											56	63	61					12																	51203255		2202	4300	6502	49489522	SO:0001583	missense	466			BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"basic leucine zipper proteins"	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.211T>A	12.37:g.51203255T>A	ENSP00000262053:p.Leu71Ile		49489522	B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287192	0.80803	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	D;D;D	0.85773	-2.03;-2.03;-2.03	4.5	3.6	0.41247	Coactivator CBP, pKID (2);	0.000000	0.85682	D	0.000000	D	0.89230	0.6656	L	0.50993	1.605	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.89724	0.3921	10	0.87932	D	0	-7.0004	12.4867	0.55877	0.0:0.9152:0.0:0.0848	.	71	P18846	ATF1_HUMAN	I	71	ENSP00000448592:L71I;ENSP00000262053:L71I;ENSP00000448921:L71I	ENSP00000262053:L71I	L	+	1	2	ATF1	49489522	1.000000	0.71417	0.987000	0.45799	0.816000	0.46133	3.612000	0.54142	1.174000	0.42811	-0.248000	0.11899	TTA		0.323	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		A	51203255	T	A	51203255	3	1	148	1	0	0	0	0	1	0	0	0	1079	1606	56	5	221	5	ATF1	12	51203255	Missense_Mutation	SNP	T	TCGA-13-1507-01A-01W-0549-09	29844433	51203255	82648640	58	8174											
FAM19A2	338811	genome.wustl.edu	37	12	62148734	62148734	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr12:62148734C>G	ENST00000416284.3	-	3	1762	c.178G>C	c.(178-180)Gaa>Caa	p.E60Q	FAM19A2_ENST00000551619.1_Missense_Mutation_p.E60Q|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	60						cytoplasm (GO:0005737)		p.E60Q(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGTGACCGTTCTTCTATCTTG	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											205	141	163					12																	62148734		2203	4300	6503	60435001	SO:0001583	missense	338811			AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.178G>C	12.37:g.62148734C>G	ENSP00000393987:p.Glu60Gln		60435001	B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019455	0.93462	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83827	0.0250	8	.	.	.	.	19.2833	0.94060	0.0:1.0:0.0:0.0	.	60	Q8N3H0	F19A2_HUMAN	Q	60;60;61;67;61	.	.	E	-	1	0	FAM19A2	60435001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.749000	0.85096	2.557000	0.86248	0.558000	0.71614	GAA		0.488	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		G	62148734	C	G	62148734	3	3	148	1	0	0	0	0	1	0	0	0	5532	922	32	3	229	3	FAM19A2	12	62148734	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	10945479	62148734	71703161	59	8175											
GPR81	27198	genome.wustl.edu	37	12	123214524	123214524	+	Silent	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr12:123214524G>A	ENST00000436083.2	-	1	866	c.363C>T	c.(361-363)caC>caT	p.H121H	HCAR1_ENST00000432564.1_Silent_p.H121H|HCAR1_ENST00000356987.2_Silent_p.H121H			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	121					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H121H(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TCACCGCGTGGTGGGGGTGGA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	12											55	54	54					12																	123214524		2203	4300	6503	121780477	SO:0001819	synonymous_variant	27198			AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.363C>T	12.37:g.123214524G>A			121780477	B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	ENST00000436083.2	37	CCDS9236.1																																																																																				0.612	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			A	123214524	G	A	123214524	2	1	148	1	0	0	0	0	0	0	0	1	6711	1252	44	2		2	GPR81	12	123214524	Silent	SNP	G	TCGA-13-1507-01A-01W-0549-09	61065790	123214524	10637371	60	8176											
TPP2	7174	genome.wustl.edu	37	13	103280241	103280241	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr13:103280241G>C	ENST00000376065.4	+	8	1019	c.983G>C	c.(982-984)aGt>aCt	p.S328T	TPP2_ENST00000376052.3_Missense_Mutation_p.S328T	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	328	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.S328T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCAACTACAGTTACGGAGAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	13											112	102	106					13																	103280241		2203	4300	6503	102078242	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.983G>C	13.37:g.103280241G>C	ENSP00000365233:p.Ser328Thr		102078242	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203791	0.95033	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.72615	-0.67;-0.67	5.15	5.15	0.70609	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.086103	0.85682	D	0.000000	D	0.87132	0.6101	H	0.96398	3.815	0.80722	D	1	D	0.53151	0.958	P	0.54431	0.752	D	0.91385	0.5130	10	0.87932	D	0	.	19.0466	0.93022	0.0:0.0:1.0:0.0	.	328	P29144	TPP2_HUMAN	T	328	ENSP00000365233:S328T;ENSP00000365220:S328T	ENSP00000365220:S328T	S	+	2	0	TPP2	102078242	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.371000	0.97162	2.580000	0.87095	0.558000	0.71614	AGT		0.373	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			C	103280241	G	C	103280241	3	2	148	1	0	0	0	0	1	0	0	0	16412	1029	36	3	1013	3	TPP2	13	103280241	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09		103280241	11889637	61	8177											
APEX1	328	genome.wustl.edu	37	14	20925288	20925288	+	Missense_Mutation	SNP	G	G	A	rs367614890		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr14:20925288G>A	ENST00000216714.3	+	5	846	c.578G>A	c.(577-579)cGc>cAc	p.R193H	APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Missense_Mutation_p.R193H|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Missense_Mutation_p.A12T|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Missense_Mutation_p.R193H	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	193					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)	p.R193H(1)		breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAAGCCTTTCGCAAGTTCCTG	0.542								Other BER factors																																								1	Substitution - Missense(1)	ovary(1)	14						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	70	72	71		578,578,578	4.9	0.9	14		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	APEX1	NM_001641.3,NM_080648.2,NM_080649.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	193/319,193/319,193/319	20925288	1,13005	2203	4300	6503	19995128	SO:0001583	missense	328			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.578G>A	14.37:g.20925288G>A	ENSP00000216714:p.Arg193His		19995128	Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	CCDS9550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.45|14.45	2.538819|2.538819	0.45176|0.45176	0.0|0.0	1.16E-4|1.16E-4	ENSG00000100823|ENSG00000100823	ENST00000438886|ENST00000555414;ENST00000216714;ENST00000553681;ENST00000398030;ENST00000555839	.|T;T;T;T;T	.|0.80994	.|-1.44;-1.44;-1.44;-1.44;-1.44	5.79|5.79	4.89|4.89	0.63831|0.63831	.|Endonuclease/exonuclease/phosphatase (2);	.|0.107146	.|0.64402	.|D	.|0.000004	T|T	0.78355|0.78355	0.4270|0.4270	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	.|B	.|0.19331	.|0.035	.|B	.|0.09377	.|0.004	T|T	0.75736|0.75736	-0.3213|-0.3213	5|10	.|0.72032	.|D	.|0.01	.|.	15.7814|15.7814	0.78264|0.78264	0.0:0.1369:0.8631:0.0|0.0:0.1369:0.8631:0.0	.|.	.|193	.|P27695	.|APEX1_HUMAN	T|H	120|193;193;193;193;164	.|ENSP00000451979:R193H;ENSP00000216714:R193H;ENSP00000451327:R193H;ENSP00000381111:R193H;ENSP00000452460:R164H	.|ENSP00000216714:R193H	A|R	+|+	1|2	0|0	APEX1|APEX1	19995128|19995128	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.967000|0.967000	0.64934|0.64934	4.380000|4.380000	0.59581|0.59581	1.420000|1.420000	0.47138|0.47138	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.542	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		A	20925288	G	A	20925288	3	1	148	1	0	0	0	0	1	0	0	0	769	1087	38	1	592	1	APEX1	14	20925288	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09		20925288	86424252	62	8178											
PTGDR	5729	genome.wustl.edu	37	14	52734924	52734924	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr14:52734924G>T	ENST00000306051.2	+	1	494	c.392G>T	c.(391-393)tGg>tTg	p.W131L	PTGDR_ENST00000553372.1_Missense_Mutation_p.W131L	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	131					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.W131L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTGGAGTGCTGGCTCTCCCTA	0.622																																																1	Substitution - Missense(1)	ovary(1)	14											120	123	122					14																	52734924		2203	4300	6503	51804674	SO:0001583	missense	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.392G>T	14.37:g.52734924G>T	ENSP00000303424:p.Trp131Leu		51804674	G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899792	0.72754	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.71934	-0.61;-0.61	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000371	T	0.72120	0.3421	L	0.39633	1.23	0.54753	D	0.999983	P	0.50272	0.933	P	0.53988	0.739	T	0.68473	-0.5399	10	0.27082	T	0.32	-21.6448	15.9719	0.80027	0.0:0.0:1.0:0.0	.	131	Q13258	PD2R_HUMAN	L	131	ENSP00000303424:W131L;ENSP00000452408:W131L	ENSP00000303424:W131L	W	+	2	0	PTGDR	51804674	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.714000	0.61902	2.549000	0.85964	0.563000	0.77884	TGG		0.622	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		T	52734924	G	T	52734924	3	4	148	1	0	0	0	0	1	0	0	0	12744	1357	47	3	394	3	PTGDR	14	52734924	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	31809636	52734924	54614616	63	8179											
PPP2R5C	5527	genome.wustl.edu	37	14	102384182	102384182	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr14:102384182T>G	ENST00000334743.5	+	13	1389	c.1341T>G	c.(1339-1341)agT>agG	p.S447R	PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.S478R|PPP2R5C_ENST00000350249.3_Intron	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	447					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.S447R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGTGTATAGTCAAGCCAGCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	14											179	149	159					14																	102384182		2203	4300	6503	101453935	SO:0001583	missense	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1341T>G	14.37:g.102384182T>G	ENSP00000333905:p.Ser447Arg		101453935	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	CCDS9964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.603|9.603	1.129235|1.129235	0.21041|0.21041	.|.	.|.	ENSG00000078304|ENSG00000078304	ENST00000422945;ENST00000557268;ENST00000334743|ENST00000555237	T;T;T|.	0.43688|.	0.94;0.94;0.94|.	5.27|5.27	2.89|2.89	0.33648|0.33648	.|.	.|.	.|.	.|.	.|.	T|T	0.43456|0.43456	0.1248|0.1248	L|L	0.34521|0.34521	1.04|1.04	0.40463|0.40463	D|D	0.980263|0.980263	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.10450|.	0.005;0.001|.	T|T	0.18147|0.18147	-1.0346|-1.0346	9|5	0.09843|.	T|.	0.71|.	.|.	6.6863|6.6863	0.23146|0.23146	0.1493:0.075:0.0:0.7757|0.1493:0.075:0.0:0.7757	.|.	478;447|.	F5GWP3;Q13362|.	.;2A5G_HUMAN|.	R|G	478;476;447|72	ENSP00000412324:S478R;ENSP00000450931:S476R;ENSP00000333905:S447R|.	ENSP00000333905:S447R|.	S|V	+|+	3|2	2|0	PPP2R5C|PPP2R5C	101453935|101453935	0.982000|0.982000	0.34865|0.34865	0.990000|0.990000	0.47175|0.47175	0.759000|0.759000	0.43091|0.43091	0.120000|0.120000	0.15647|0.15647	0.392000|0.392000	0.25172|0.25172	0.459000|0.459000	0.35465|0.35465	AGT|GTC		0.517	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		G	102384182	T	G	102384182	3	3	148	1	0	0	0	0	1	0	0	0	12397	1664	58	5	1784	5	PPP2R5C	14	102384182	Missense_Mutation	SNP	T	TCGA-13-1507-01A-01W-0549-09	49649258	102384182	4965358	64	8180											
CDCA4	55038	genome.wustl.edu	37	14	105478068	105478068	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr14:105478068G>A	ENST00000336219.3	-	2	354	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	CDCA4_ENST00000392590.3_Missense_Mutation_p.R67W	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	67	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)		p.R67W(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGGATCTGCCGGACCGTGTTG	0.632																																																1	Substitution - Missense(1)	ovary(1)	14											57	45	49					14																	105478068		2203	4300	6503	104549113	SO:0001583	missense	55038			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"hematopoietic progenitor protein"	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.199C>T	14.37:g.105478068G>A	ENSP00000337226:p.Arg67Trp		104549113	Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453546	0.63290	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.41758	0.99;0.99	4.56	1.36	0.22044	.	0.125699	0.53938	D	0.000060	T	0.54565	0.1866	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.54450	-0.8292	10	0.87932	D	0	0.0	9.7907	0.40704	0.0:0.1337:0.5914:0.2749	.	67	Q9BXL8	CDCA4_HUMAN	W	67	ENSP00000337226:R67W;ENSP00000376369:R67W	ENSP00000337226:R67W	R	-	1	2	CDCA4	104549113	1.000000	0.71417	0.892000	0.35008	0.638000	0.38207	5.784000	0.68990	0.433000	0.26313	-0.165000	0.13383	CGG		0.632	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		A	105478068	G	A	105478068	3	1	148	1	0	0	0	0	1	0	0	0	3088	1115	39	1	530	1	CDCA4	14	105478068	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	3093886	105478068	1871472	65	8181											
TUBGCP4	27229	genome.wustl.edu	37	15	43689444	43689444	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr15:43689444A>C	ENST00000260383.7	+	12	1458	c.1204A>C	c.(1204-1206)Aag>Cag	p.K402Q	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.K266Q|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.K402Q			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	402					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.K402Q(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTCAGCACACAAGGTATTGCT	0.493																																																1	Substitution - Missense(1)	ovary(1)	15											176	177	177					15																	43689444		2134	4244	6378	41476736	SO:0001583	missense	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1204A>C	15.37:g.43689444A>C	ENSP00000260383:p.Lys402Gln		41476736	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37		.	.	.	.	.	.	.	.	.	.	A	24.4	4.532558	0.85812	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.07567	3.18;3.18	5.64	4.51	0.55191	.	0.041966	0.85682	D	0.000000	T	0.12860	0.0312	M	0.71871	2.18	0.47621	D	0.999473	P;P	0.41848	0.763;0.516	B;B	0.43194	0.411;0.287	T	0.03403	-1.1040	10	0.26408	T	0.33	-20.5908	10.5849	0.45278	0.9246:0.0:0.0754:0.0	.	402;402	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	Q	402;266	ENSP00000260383:K402Q;ENSP00000382387:K266Q	ENSP00000260383:K402Q	K	+	1	0	TUBGCP4	41476736	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.243000	0.78219	2.272000	0.75746	0.460000	0.39030	AAG		0.493	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		C	43689444	A	C	43689444	3	2	148	1	0	0	0	0	1	0	0	0	16768	131	5	5	1250	5	TUBGCP4	15	43689444	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09		43689444	58841948	66	8182											
SHC4	399694	genome.wustl.edu	37	15	49127214	49127214	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr15:49127214G>T	ENST00000332408.4	-	11	1917	c.1489C>A	c.(1489-1491)Cca>Aca	p.P497T	SHC4_ENST00000537958.1_Missense_Mutation_p.P211T|SHC4_ENST00000396535.3_Missense_Mutation_p.P254T	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	497	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.P497T(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACAGTTTCTGGTGCCTCTGAA	0.468																																																1	Substitution - Missense(1)	ovary(1)	15											40	35	37					15																	49127214		2197	4295	6492	46914506	SO:0001583	missense	399694			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1489C>A	15.37:g.49127214G>T	ENSP00000329668:p.Pro497Thr		46914506	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653506	0.29425	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.30981	3.51;1.51;1.52	4.76	4.76	0.60689	.	0.170764	0.41605	D	0.000842	T	0.23014	0.0556	L	0.39898	1.24	0.46927	D	0.999257	B;B	0.23249	0.082;0.048	B;B	0.21708	0.036;0.028	T	0.03945	-1.0990	10	0.10377	T	0.69	-23.2345	12.1432	0.54008	0.0:0.0:0.8293:0.1707	.	254;497	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	T	497;254;211	ENSP00000329668:P497T;ENSP00000379786:P254T;ENSP00000443300:P211T	ENSP00000329668:P497T	P	-	1	0	SHC4	46914506	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.117000	0.41939	2.473000	0.83533	0.467000	0.42956	CCA		0.468	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		T	49127214	G	T	49127214	3	4	148	1	0	0	0	0	1	0	0	0	14276	1261	44	3	411	3	SHC4	15	49127214	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	5437770	49127214	53404178	67	8183											
TLN2	83660	genome.wustl.edu	37	15	63131054	63131054	+	Splice_Site	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr15:63131054G>A	ENST00000561311.1	+	57	7604		c.e57-1		RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.?(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACTCTCCAGGCGGCAGGAA	0.448																																																1	Unknown(1)	ovary(1)	15											92	88	90					15																	63131054		2203	4300	6503	60918107	SO:0001630	splice_region_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7375-1G>A	15.37:g.63131054G>A			60918107	A6NLB8	Splice_Site	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616834	0.87359	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.786	0.96437	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLN2	60918107	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.676000	0.91093	0.563000	0.77884	.		0.448	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Intron	A	63131054	G	A	63131054	5	1	148	1	0	0	0	0	0	0	1	0	15948	1014	35	2	7592	2	TLN2	15	63131054	Splice_Site	SNP	G	TCGA-13-1507-01A-01W-0549-09	14003840	63131054	39400338	68	8184											
ZNF592	9640	genome.wustl.edu	37	15	85342397	85342397	+	Silent	SNP	C	C	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr15:85342397C>T	ENST00000560079.2	+	9	3381	c.3093C>T	c.(3091-3093)caC>caT	p.H1031H	ZNF592_ENST00000299927.3_Silent_p.H1031H	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1031					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H1031H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCGCAAACACATCCGCAACA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	15											240	218	226					15																	85342397		2203	4299	6502	83143401	SO:0001819	synonymous_variant	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3093C>T	15.37:g.85342397C>T			83143401	Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	CCDS32317.1																																																																																				0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		T	85342397	C	T	85342397	2	4	148	1	0	0	0	0	0	0	0	1	18022	477	17	2		2	ZNF592	15	85342397	Silent	SNP	C	TCGA-13-1507-01A-01W-0549-09	22211343	85342397	17188995	69	8185											
PITPNA	5306	genome.wustl.edu	37	17	1442213	1442213	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr17:1442213C>T	ENST00000313486.7	-	7	661	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	PITPNA_ENST00000539476.1_Missense_Mutation_p.V136M	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	136					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)	p.V136M(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		ACGGCTTCCACGTGTTTCCAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	17											133	129	130					17																	1442213		1929	4137	6066	1388963	SO:0001583	missense	5306			M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"phosphotidylinositol transfer protein"	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.406G>A	17.37:g.1442213C>T	ENSP00000316809:p.Val136Met		1388963		Missense_Mutation	SNP	ENST00000313486.7	37	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239042	0.79800	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	T;T	0.48201	0.82;0.82	5.98	5.02	0.67125	START-like domain (1);	0.118428	0.56097	D	0.000024	T	0.71710	0.3372	M	0.86805	2.84	0.58432	D	0.999999	D;D	0.89917	0.981;1.0	P;D	0.91635	0.907;0.999	T	0.76263	-0.3023	10	0.52906	T	0.07	.	13.7036	0.62624	0.0:0.9259:0.0:0.0741	.	63;136	B4E1U1;Q00169	.;PIPNA_HUMAN	M	136;136;63	ENSP00000441869:V136M;ENSP00000316809:V136M	ENSP00000316809:V136M	V	-	1	0	PITPNA	1388963	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	6.017000	0.70805	1.541000	0.49316	0.591000	0.81541	GTG		0.473	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			T	1442213	C	T	1442213	3	4	148	1	0	0	0	0	1	0	0	0	11947	536	19	1	426	1	PITPNA	17	1442213	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09		1442213	79752997	70	8186											
TP53	7157	genome.wustl.edu	37	17	7578505	7578511	+	Frame_Shift_Del	DEL	GGGCAGG	GGGCAGG	-	rs587781288		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	GGGCAGG	GGGCAGG	GGGCAGG	-	GGGCAGG	GGGCAGG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr17:7578505_7578511delGGGCAGG	ENST00000269305.4	-	5	608_614	c.419_425delCCTGCCC	c.(418-426)acctgccctfs	p.TCP140fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.TCP140fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.TCP140fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.TCP140fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.TCP140fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.TCP140fs	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	140	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141Y(79)|p.C141R(13)|p.C141W(13)|p.T140I(12)|p.C141*(11)|p.P142L(8)|p.0?(8)|p.T140T(6)|p.C9Y(5)|p.C48Y(5)|p.C141S(5)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.C141F(4)|p.K139_T140delKT(3)|p.P142H(3)|p.C141fs*29(3)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.T140fs*9(1)|p.K46_T47delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.T140N(1)|p.C48S(1)|p.C48R(1)|p.C48W(1)|p.C9S(1)|p.C9R(1)|p.C9W(1)|p.C135_T140delCQLAKT(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(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)	CAGCTGCACAGGGCAGGTCTTGGCCAG	0.575		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"	228	Substitution - Missense(164)|Deletion - In frame(16)|Substitution - Nonsense(11)|Deletion - Frameshift(10)|Substitution - coding silent(10)|Whole gene deletion(8)|Insertion - Frameshift(6)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	large_intestine(37)|ovary(24)|breast(23)|lung(17)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(14)|central_nervous_system(11)|upper_aerodigestive_tract(11)|stomach(11)|liver(11)|urinary_tract(9)|prostate(8)|skin(7)|endometrium(6)|NS(5)|bone(5)|biliary_tract(4)|testis(3)|soft_tissue(2)|pancreas(2)|vulva(1)|kidney(1)|eye(1)|genital_tract(1)	17	GRCh37	CM993216	TP53	M																																				7519236	SO:0001589	frameshift_variant	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.419_425delCCTGCCC	17.37:g.7578505_7578511delGGGCAGG	ENSP00000269305:p.Thr140fs		7519230	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.575	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578511	GGGCAGG	-	7578505	7	5	148	1	0	1	0	1	0	0	0	0	16381	1000	35	0	873	0	TP53	17	7578505	Frame_Shift_Del	DEL	GGGCAGG	TCGA-13-1507-01A-01W-0549-09	6136292	7578505	73616705	71	8187											
DNAH2	146754	genome.wustl.edu	37	17	7660424	7660424	+	Silent	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr17:7660424C>G	ENST00000572933.1	+	13	3380	c.1920C>G	c.(1918-1920)ctC>ctG	p.L640L	RPL29P2_ENST00000498671.1_RNA|DNAH2_ENST00000389173.2_Silent_p.L640L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	640	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L640L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCTGATTCTCTTTGCGGAAA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	17											195	191	192					17																	7660424		2203	4300	6503	7601149	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1920C>G	17.37:g.7660424C>G			7601149	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																				0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		G	7660424	C	G	7660424	2	3	148	1	0	0	0	0	0	0	0	1	4602	900	32	3		3	DNAH2	17	7660424	Silent	SNP	C	TCGA-13-1507-01A-01W-0549-09	81919	7660424	73534786	72	8188											
MYH4	4622	genome.wustl.edu	37	17	10362708	10362708	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr17:10362708A>C	ENST00000255381.2	-	15	1557	c.1447T>G	c.(1447-1449)Ttc>Gtc	p.F483V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	483	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.F483V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCGTTGGTGAAGTTGATGCAC	0.408																																																1	Substitution - Missense(1)	ovary(1)	17											155	136	142					17																	10362708		2203	4300	6503	10303433	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1447T>G	17.37:g.10362708A>C	ENSP00000255381:p.Phe483Val		10303433		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.878970	0.91740	.	.	ENSG00000141048	ENST00000255381	T	0.72051	-0.62	5.57	5.57	0.84162	Myosin head, motor domain (3);	0.000000	0.39475	U	0.001344	D	0.87985	0.6316	M	0.92219	3.285	0.80722	D	1	B	0.32604	0.377	P	0.55545	0.778	D	0.89083	0.3477	10	0.87932	D	0	.	16.0284	0.80558	1.0:0.0:0.0:0.0	.	483	Q9Y623	MYH4_HUMAN	V	483	ENSP00000255381:F483V	ENSP00000255381:F483V	F	-	1	0	MYH4	10303433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.199000	0.95003	2.253000	0.74438	0.533000	0.62120	TTC		0.408	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		C	10362708	A	C	10362708	3	2	148	1	0	0	0	0	1	0	0	0	10037	72	3	5	4476	5	MYH4	17	10362708	Missense_Mutation	SNP	A	TCGA-13-1507-01A-01W-0549-09	2702284	10362708	70832502	73	8189											
MYH1	4619	genome.wustl.edu	37	17	10408742	10408742	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr17:10408742T>A	ENST00000226207.5	-	20	2355	c.2261A>T	c.(2260-2262)gAc>gTc	p.D754V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	754	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D754V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGGTCAATGTCAATGGACCC	0.403																																																1	Substitution - Missense(1)	ovary(1)	17											118	115	116					17																	10408742		2203	4300	6503	10349467	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2261A>T	17.37:g.10408742T>A	ENSP00000226207:p.Asp754Val		10349467	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864434	0.51482	.	.	ENSG00000109061	ENST00000226207	D	0.87650	-2.28	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.000000	0.44902	U	0.000417	D	0.90542	0.7036	M	0.80183	2.485	0.80722	D	1	B	0.22211	0.066	B	0.38296	0.27	D	0.89546	0.3796	10	0.87932	D	0	.	15.8518	0.78937	0.0:0.0:0.0:1.0	.	754	P12882	MYH1_HUMAN	V	754	ENSP00000226207:D754V	ENSP00000226207:D754V	D	-	2	0	MYH1	10349467	1.000000	0.71417	0.115000	0.21578	0.076000	0.17211	7.827000	0.86722	2.216000	0.71823	0.528000	0.53228	GAC		0.403	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10408742	T	A	10408742	3	1	148	1	0	0	0	0	1	0	0	0	10029	1667	58	5	3642	5	MYH1	17	10408742	Missense_Mutation	SNP	T	TCGA-13-1507-01A-01W-0549-09	46034	10408742	70786468	74	8190											
WFIKKN2	124857	genome.wustl.edu	37	17	48917135	48917135	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr17:48917135G>C	ENST00000311378.4	+	2	1014	c.486G>C	c.(484-486)gaG>gaC	p.E162D	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E69D|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	162	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E162D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGATGCCGAGGCCTGCTCCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											103	94	97					17																	48917135		2203	4300	6503	46272134	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.486G>C	17.37:g.48917135G>C	ENSP00000311184:p.Glu162Asp		46272134	Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481908	0.63849	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.05996	3.36;3.36	5.25	0.825	0.18824	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	M	0.61703	1.905	0.51233	D	0.999918	D	0.76494	0.999	D	0.76575	0.988	T	0.00284	-1.1848	10	0.66056	D	0.02	.	11.2218	0.48860	0.3825:0.0:0.6175:0.0	.	162	Q8TEU8	WFKN2_HUMAN	D	69;162	ENSP00000405889:E69D;ENSP00000311184:E162D	ENSP00000311184:E162D	E	+	3	2	WFIKKN2	46272134	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.106000	0.31098	0.197000	0.20387	0.651000	0.88453	GAG		0.602	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		C	48917135	G	C	48917135	3	2	148	1	0	0	0	0	1	0	0	0	17359	991	35	3	492	3	WFIKKN2	17	48917135	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	38508393	48917135	32278075	75	8191											
PPM1E	22843	genome.wustl.edu	37	17	57043102	57043103	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	GA	GA	GA	AG	GA	GA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr17:57043102_57043103GA>AG	ENST00000308249.2	+	3	760_761	c.631_632GA>AG	c.(631-633)GAg>AGg	p.E211R	RP11-579O24.3_ENST00000582080.1_RNA	NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.E211K(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CAAACTACACGAGATTTGCTGC	0.46																																																1	Substitution - Missense(1)	large_intestine(1)	17																																								54397885	SO:0001583	missense	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		Exception_encountered	17.37:g.57043102_57043103delinsAG	ENSP00000312411:p.Glu211Arg		54397884	Q8N8J9|Q96DB8	Missense_Mutation	DNP	ENST00000308249.2	37	CCDS11613.1																																																																																				0.46	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		AG	57043103	GA	AG	57043102	3	1	148	1	0	0	0	0	1	0	0	0	12341	1059	37	1	641	1	PPM1E	17	57043102	Missense_Mutation	DNP	GA	TCGA-13-1507-01A-01W-0549-09	8125967	57043102	24152108	76	8192											
GPRC5C	55890	genome.wustl.edu	37	17	72435976	72435976	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr17:72435976G>A	ENST00000481232.1	+	2	707	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	GPRC5C_ENST00000392629.2_Missense_Mutation_p.A33T|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392627.1_Missense_Mutation_p.A66T			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	21					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.A66T(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GTTCCCAGGGGCCTGGGCCCA	0.652																																																1	Substitution - Missense(1)	ovary(1)	17											57	52	53					17																	72435976		2203	4300	6503	69947571	SO:0001583	missense	55890			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.196G>A	17.37:g.72435976G>A	ENSP00000462147:p.Ala66Thr		69947571	B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000481232.1	37		.	.	.	.	.	.	.	.	.	.	G	8.266	0.812290	0.16537	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	T	0.18502	2.21	5.16	2.96	0.34315	.	1.331490	0.04384	N	0.361356	T	0.20700	0.0498	L	0.53249	1.67	0.09310	N	1	B;B;B;P	0.46142	0.022;0.022;0.037;0.873	B;B;B;B	0.39660	0.006;0.006;0.013;0.306	T	0.30504	-0.9976	10	0.56958	D	0.05	-4.6753	9.4826	0.38911	0.2328:0.0:0.7672:0.0	.	21;21;33;21	A8MXZ4;Q9NQ84;Q9NQ84-2;Q9BSP0	.;GPC5C_HUMAN;.;.	T	21;66;33;21	ENSP00000376405:A33T	ENSP00000340595:A66T	A	+	1	0	GPRC5C	69947571	0.016000	0.18221	0.155000	0.22561	0.772000	0.43724	0.928000	0.28831	1.179000	0.42884	0.561000	0.74099	GCC		0.652	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2			A	72435976	G	A	72435976	3	1	148	1	0	0	0	0	1	0	0	0	6726	1203	42	2	210	2	GPRC5C	17	72435976	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	15392874	72435976	8759234	77	8193											
MC2R	4158	genome.wustl.edu	37	18	13884639	13884639	+	Silent	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr18:13884639G>A	ENST00000327606.3	-	2	1059	c.879C>T	c.(877-879)tgC>tgT	p.C293C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	293					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.C293C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTACCTGCTGCAGAAGATCA	0.473																																					Colon(141;1584 1782 35999 48227 48692)											1	Substitution - coding silent(1)	ovary(1)	18											115	112	113					18																	13884639		2203	4300	6503	13874639	SO:0001819	synonymous_variant	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.879C>T	18.37:g.13884639G>A			13874639	A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	CCDS11869.1																																																																																				0.473	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			A	13884639	G	A	13884639	2	1	148	1	0	0	0	0	0	0	0	1	9364	1311	46	2		2	MC2R	18	13884639	Silent	SNP	G	TCGA-13-1507-01A-01W-0549-09		13884639	64192609	78	8194											
LDLR	3949	genome.wustl.edu	37	19	11240342	11240342	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr19:11240342C>T	ENST00000558518.1	+	17	2730	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L	LDLR_ENST00000545707.1_Missense_Mutation_p.P670L|LDLR_ENST00000558013.1_Missense_Mutation_p.P848L|LDLR_ENST00000535915.1_Missense_Mutation_p.P807L|LDLR_ENST00000455727.2_Missense_Mutation_p.P680L|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.P869S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	848	Required for MYLIP-triggered down- regulation of LDLR.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.P848L(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TACAGCTACCCCTCGGTGAGT	0.572																																					GBM(18;201 575 7820 21545)											1	Substitution - Missense(1)	ovary(1)	19											114	88	97					19																	11240342		2203	4300	6503	11101342	SO:0001583	missense	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2543C>T	19.37:g.11240342C>T	ENSP00000454071:p.Pro848Leu		11101342	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285252	0.80803	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.97906	-4.6;-3.6;-3.69	4.82	4.82	0.62117	Growth factor, receptor (1);	0.000000	0.50627	D	0.000103	D	0.98588	0.9528	M	0.77406	2.37	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99823	1.1048	10	0.87932	D	0	.	17.0233	0.86439	0.0:1.0:0.0:0.0	.	680;670;727;807;860;848	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	L	848;670;807;680	ENSP00000437639:P670L;ENSP00000440520:P807L;ENSP00000397829:P680L	ENSP00000252444:P848L	P	+	2	0	LDLR	11101342	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	7.292000	0.78731	2.389000	0.81357	0.563000	0.77884	CCC		0.572	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			T	11240342	C	T	11240342	3	4	148	1	0	0	0	0	1	0	0	0	8704	623	22	2	2609	2	LDLR	19	11240342	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09		11240342	47888641	79	8195											
DDX39	10212	genome.wustl.edu	37	19	14521893	14521893	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr19:14521893C>T	ENST00000242776.4	-	5	622	c.521G>A	c.(520-522)cGc>cAc	p.R174H	DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Missense_Mutation_p.R174H|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	174	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R174H(1)		NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CGCCAGGATGCGGCCCGGGGT	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											104	103	103					19																	14521893		2203	4300	6503	14382893	SO:0001583	missense	10212			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.521G>A	19.37:g.14521893C>T	ENSP00000242776:p.Arg174His		14382893	Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924289	0.92319	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.54479	2.11;0.57;0.57	4.73	4.73	0.59995	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82426	0.5034	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.89265	0.3600	10	0.87932	D	0	-27.288	15.2086	0.73198	0.0:1.0:0.0:0.0	.	174;174	B1Q2N1;O00148	.;DX39A_HUMAN	H	217;174;174;174	ENSP00000242776:R174H;ENSP00000322749:R174H;ENSP00000392929:R174H	ENSP00000242776:R174H	R	-	2	0	DDX39A	14382893	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	7.205000	0.77881	2.172000	0.68678	0.655000	0.94253	CGC		0.552	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		T	14521893	C	T	14521893	3	4	148	1	0	0	0	0	1	0	0	0	4357	768	27	1	790	1	DDX39	19	14521893	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09	3281551	14521893	44607090	80	8196											
ZNF224	7767	genome.wustl.edu	37	19	44611668	44611668	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr19:44611668G>T	ENST00000336976.6	+	6	1609	c.1355G>T	c.(1354-1356)gGa>gTa	p.G452V	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	452					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G452V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTCCATACAGGAGAGAAACTG	0.453																																																1	Substitution - Missense(1)	ovary(1)	19											76	80	79					19																	44611668		2203	4300	6503	49303508	SO:0001583	missense	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1355G>T	19.37:g.44611668G>T	ENSP00000337368:p.Gly452Val		49303508	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	15.63	2.890444	0.52014	.	.	ENSG00000186019	ENST00000336976	T	0.23552	1.9	2.93	2.93	0.34026	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53916	0.1826	M	0.86953	2.85	0.49299	D	0.999772	D	0.89917	1.0	D	0.97110	1.0	T	0.63580	-0.6605	9	0.62326	D	0.03	.	13.0472	0.58933	0.0:0.0:1.0:0.0	.	452	Q9NZL3	ZN224_HUMAN	V	452	ENSP00000337368:G452V	ENSP00000337368:G452V	G	+	2	0	ZNF224	49303508	.	.	0.945000	0.38365	0.609000	0.37215	.	.	1.631000	0.50456	0.591000	0.81541	GGA		0.453	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		T	44611668	G	T	44611668	3	4	148	1	0	0	0	0	1	0	0	0	17778	1174	41	3	1369	3	ZNF224	19	44611668	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	30089775	44611668	14517315	81	8197											
RELB	5971	genome.wustl.edu	37	19	45535916	45535916	+	Silent	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr19:45535916C>G	ENST00000221452.8	+	9	1266	c.1116C>G	c.(1114-1116)gtC>gtG	p.V372V	RELB_ENST00000505236.1_Silent_p.V369V|RELB_ENST00000540120.1_Silent_p.V372V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	372	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V372V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TGGAGATTGTCGAGCCCGTGA	0.617																																																1	Substitution - coding silent(1)	ovary(1)	19											37	39	38					19																	45535916		2078	4217	6295	50227756	SO:0001819	synonymous_variant	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1116C>G	19.37:g.45535916C>G			50227756	Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	CCDS46110.1																																																																																				0.617	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			G	45535916	C	G	45535916	2	3	148	1	0	0	0	0	0	0	0	1	13220	871	31	3		3	RELB	19	45535916	Silent	SNP	C	TCGA-13-1507-01A-01W-0549-09	924248	45535916	13593067	82	8198											
GPR77	27202	genome.wustl.edu	37	19	47844955	47844955	+	Missense_Mutation	SNP	G	G	T	rs117238101	byFrequency	TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr19:47844955G>T	ENST00000595464.1	+	2	1117	c.899G>T	c.(898-900)cGc>cTc	p.R300L	C5AR2_ENST00000257267.2_Missense_Mutation_p.R300L|C5AR2_ENST00000600626.1_Missense_Mutation_p.R300L	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	300					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.R300L(1)									GCTCAACTCCGCCGGTCACTG	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											49	46	47					19																	47844955		2203	4300	6503	52536795	SO:0001583	missense	27202			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.899G>T	19.37:g.47844955G>T	ENSP00000472620:p.Arg300Leu		52536795	B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	G	3.493	-0.103361	0.06967	.	.	ENSG00000134830	ENST00000257267	T	0.39406	1.08	3.86	2.81	0.32909	.	0.375017	0.26213	U	0.025665	T	0.26412	0.0645	L	0.27053	0.805	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.13415	-1.0510	10	0.34782	T	0.22	.	7.549	0.27783	0.1204:0.0:0.8796:0.0	.	300	Q9P296	C5ARL_HUMAN	L	300	ENSP00000257267:R300L	ENSP00000257267:R300L	R	+	2	0	GPR77	52536795	0.000000	0.05858	0.001000	0.08648	0.561000	0.35649	-0.013000	0.12678	0.956000	0.37904	0.313000	0.20887	CGC		0.632	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		T	47844955	G	T	47844955	3	4	148	1	0	0	0	0	1	0	0	0	6709	1087	38	3	901	3	GPR77	19	47844955	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	2309039	47844955	11284028	83	8199											
KLK12	43849	genome.wustl.edu	37	19	51534152	51534152	+	Silent	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr19:51534152G>A	ENST00000525263.1	-	4	602	c.483C>T	c.(481-483)tgC>tgT	p.C161C	KLK12_ENST00000250351.4_Silent_p.C161C|KLK11_ENST00000319720.7_5'Flank|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.C161C|KLK12_ENST00000529888.1_Missense_Mutation_p.P75S|KLK11_ENST00000391804.3_5'Flank|KLK12_ENST00000250352.11_Silent_p.C51C			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C161C(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGAGGTTGAGGCACTGGAGCA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	19											171	156	161					19																	51534152		2203	4300	6503	56225964	SO:0001819	synonymous_variant	43849				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.483C>T	19.37:g.51534152G>A			56225964	Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	g	6.788	0.514355	0.12944	.	.	ENSG00000186474	ENST00000529888	D	0.81499	-1.5	4.62	1.22	0.21188	.	.	.	.	.	T	0.67144	0.2862	.	.	.	0.80722	D	1	B	0.15930	0.015	B	0.04013	0.001	T	0.56956	-0.7893	8	0.29301	T	0.29	.	8.2259	0.31568	0.2811:0.0:0.7189:0.0	.	75	Q9UKR2	.	S	75	ENSP00000434036:P75S	ENSP00000434036:P75S	P	-	1	0	KLK12	56225964	0.935000	0.31712	0.997000	0.53966	0.058000	0.15608	0.375000	0.20518	0.554000	0.29061	0.555000	0.69702	CCT		0.607	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		A	51534152	G	A	51534152	2	1	148	1	0	0	0	0	0	0	0	1	8400	1204	42	2		2	KLK12	19	51534152	Silent	SNP	G	TCGA-13-1507-01A-01W-0549-09	3689197	51534152	7594831	84	8200											
PTPRT	11122	genome.wustl.edu	37	20	41419875	41419875	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr20:41419875G>A	ENST00000373187.1	-	3	445	c.446C>T	c.(445-447)gCa>gTa	p.A149V	PTPRT_ENST00000373201.1_Missense_Mutation_p.A149V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A149V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A149V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A149V|PTPRT_ENST00000373198.4_Missense_Mutation_p.A149V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A149V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	149	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.A149V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCGAGCTCTGCCTTCACCCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	20											91	95	94					20																	41419875		2019	4198	6217	40853289	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.446C>T	20.37:g.41419875G>A	ENSP00000362283:p.Ala149Val		40853289	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701288	0.48307	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02421	4.3;4.3;4.3;4.3;4.3;4.3;4.3	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.056253	0.64402	D	0.000001	T	0.03564	0.0102	L	0.35593	1.075	0.47949	D	0.999557	B;B	0.30361	0.234;0.277	B;B	0.25506	0.036;0.061	T	0.58482	-0.7629	10	0.21014	T	0.42	.	19.7626	0.96329	0.0:0.0:1.0:0.0	.	149;149	O14522-1;O14522	.;PTPRT_HUMAN	V	149	ENSP00000362286:A149V;ENSP00000362283:A149V;ENSP00000362289:A149V;ENSP00000348408:A149V;ENSP00000362294:A149V;ENSP00000362280:A149V;ENSP00000362297:A149V	ENSP00000348408:A149V	A	-	2	0	PTPRT	40853289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.718000	0.74713	2.676000	0.91093	0.561000	0.74099	GCA		0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	41419875	G	A	41419875	3	1	148	1	0	0	0	0	1	0	0	0	12815	1319	46	2	4056	2	PTPRT	20	41419875	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09		41419875	21605645	85	8201											
FAM65C	140876	genome.wustl.edu	37	20	49209686	49209686	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr20:49209686G>A	ENST00000327979.2	-	18	2659	c.2248C>T	c.(2248-2250)Ccc>Tcc	p.P750S	FAM65C_ENST00000535356.1_Missense_Mutation_p.P754S|FAM65C_ENST00000045083.2_Missense_Mutation_p.P750S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	750								p.P750S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCTCCGGGGAGCAGCCCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	20											50	54	53					20																	49209686		1965	4159	6124	48643093	SO:0001583	missense	140876			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2248C>T	20.37:g.49209686G>A	ENSP00000332663:p.Pro750Ser		48643093	Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873270	0.17322	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.77229	-1.08;-1.08;-1.08	4.91	1.59	0.23543	.	0.544083	0.15744	U	0.246754	T	0.64136	0.2571	L	0.36672	1.1	0.24554	N	0.994004	B;B	0.23806	0.03;0.091	B;B	0.28849	0.037;0.095	T	0.47446	-0.9117	10	0.07175	T	0.84	-9.5239	10.0312	0.42101	0.0764:0.2704:0.6532:0.0	.	754;750	F5H0X2;Q96MK2	.;FA65C_HUMAN	S	750;750;754	ENSP00000332663:P750S;ENSP00000045083:P750S;ENSP00000439802:P754S	ENSP00000045083:P750S	P	-	1	0	FAM65C	48643093	0.770000	0.28543	0.458000	0.27068	0.272000	0.26649	1.050000	0.30404	1.144000	0.42321	0.561000	0.74099	CCC		0.602	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			A	49209686	G	A	49209686	3	1	148	1	0	0	0	0	1	0	0	0	5601	1232	43	2	612	2	FAM65C	20	49209686	Missense_Mutation	SNP	G	TCGA-13-1507-01A-01W-0549-09	7789811	49209686	13815834	86	8202											
ISX	91464	genome.wustl.edu	37	22	35481509	35481509	+	Silent	SNP	G	G	A	rs202084562		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr22:35481509G>A	ENST00000308700.6	+	4	1513	c.561G>A	c.(559-561)tcG>tcA	p.S187S	ISX_ENST00000404699.2_Silent_p.S187S	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	187					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S187S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GTTGTCCATCGGCTCAAGATC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	22											161	129	140					22																	35481509		2203	4300	6503	33811509	SO:0001819	synonymous_variant	91464			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.561G>A	22.37:g.35481509G>A			33811509	Q68DJ5	Silent	SNP	ENST00000308700.6	37	CCDS33640.1																																																																																				0.617	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		A	35481509	G	A	35481509	2	1	148	1	0	0	0	0	0	0	0	1	7865	1103	39	1		1	ISX	22	35481509	Silent	SNP	G	TCGA-13-1507-01A-01W-0549-09		35481509	15823057	87	8203											
TCF20	6942	genome.wustl.edu	37	22	42608132	42608132	+	Silent	SNP	G	G	C			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chr22:42608132G>C	ENST00000359486.3	-	1	3316	c.3180C>G	c.(3178-3180)gcC>gcG	p.A1060A	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.A1060A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1060					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A1060A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GATAAGCAGAGGCCAGGGTTT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	22											70	70	70					22																	42608132		2203	4300	6503	40938076	SO:0001819	synonymous_variant	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3180C>G	22.37:g.42608132G>C			40938076	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.483	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		C	42608132	G	C	42608132	2	2	148	1	0	0	0	0	0	0	0	1	15690	987	35	3		3	TCF20	22	42608132	Silent	SNP	G	TCGA-13-1507-01A-01W-0549-09	7126623	42608132	8696434	88	8204											
PHEX	5251	genome.wustl.edu	37	X	22129652	22129652	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chrX:22129652C>G	ENST00000379374.4	+	10	1712	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	PHEX_ENST00000537599.1_Missense_Mutation_p.Q383E|PHEX_ENST00000418858.3_Missense_Mutation_p.Q86E|PHEX_ENST00000535894.1_Missense_Mutation_p.Q286E	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	383					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q383E(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAGGCGCTTTCAGTATAGATG	0.388																																																1	Substitution - Missense(1)	ovary(1)	X											146	139	141					X																	22129652		2203	4300	6503	22039573	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1147C>G	X.37:g.22129652C>G	ENSP00000368682:p.Gln383Glu		22039573	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327002	0.60743	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.58	5.58	0.84498	Peptidase M13 (1);	0.056475	0.64402	D	0.000001	T	0.55800	0.1943	N	0.20986	0.625	0.45216	D	0.998226	B;B	0.31153	0.063;0.31	B;B	0.24848	0.022;0.056	T	0.54715	-0.8252	10	0.11794	T	0.64	.	18.2521	0.90007	0.0:1.0:0.0:0.0	.	383;383	F5GXU4;P78562	.;PHEX_HUMAN	E	383;383;286;86	ENSP00000368682:Q383E;ENSP00000440362:Q383E;ENSP00000439418:Q286E;ENSP00000443531:Q86E	ENSP00000368682:Q383E	Q	+	1	0	PHEX	22039573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.329000	0.72920	2.349000	0.79799	0.600000	0.82982	CAG		0.388	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		G	22129652	C	G	22129652	3	3	148	1	0	0	0	0	1	0	0	0	11819	827	29	3	1185	3	PHEX	23	22129652	Missense_Mutation	SNP	C	TCGA-13-1507-01A-01W-0549-09		22129652	133140908	89	8205											
SLC38A5	92745	genome.wustl.edu	37	X	48318119	48318119	+	Splice_Site	SNP	G	G	A	rs201040223		TCGA-13-1507-01A-01W-0549-09	TCGA-13-1507-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5423db1a-5b59-4a5b-a676-00a54570b04a	8ae22ce0-cea0-4bba-9c5e-5b6cc0ae78bd	g.chrX:48318119G>A	ENST00000376876.3	-	14	2055	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Splice_Site_p.I353I|SLC38A5_ENST00000317669.5_Splice_Site_p.I404I			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	404					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)	p.I404I(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TTTACTGACCGATAACTCCAA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	X											123	101	108					X																	48318119		2203	4300	6503	48203063	SO:0001630	splice_region_variant	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1213+1C>T	X.37:g.48318119G>A			48203063	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	ENST00000376876.3	37	CCDS14293.1																																																																																				0.517	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518	Silent	A	48318119	G	A	48318119	5	1	148	1	0	0	0	0	0	0	1	0	14610	1072	37	1	218	1	SLC38A5	23	48318119	Splice_Site	SNP	G	TCGA-13-1507-01A-01W-0549-09	26188467	48318119	106952441	90	8206											
C1orf144	26099	genome.wustl.edu	37	1	16719768	16719769	+	Frame_Shift_Ins	INS	-	-	ATTGT			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:16719768_16719769insATTGT	ENST00000401088.4	+	3	322_323	c.147_148insATTGT	c.(148-150)gatfs	p.D50fs	SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000375590.3_Frame_Shift_Ins_p.D30fs|SZRD1_ENST00000492354.1_Frame_Shift_Ins_p.D30fs|SZRD1_ENST00000471507.1_Frame_Shift_Ins_p.D49fs|SZRD1_ENST00000401089.3_Frame_Shift_Ins_p.D31fs	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	50	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.							p.D31fs*41(1)									TGATTCAGGACGATAGCCTTCC	0.579																																																1	Insertion - Frameshift(1)	ovary(1)	1																																								16592356	SO:0001589	frameshift_variant	26099			BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 144"	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	Exception_encountered	1.37:g.16719768_16719769insATTGT	ENSP00000383866:p.Asp50fs		16592355	A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Frame_Shift_Ins	INS	ENST00000401088.4	37	CCDS44065.1																																																																																				0.579	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006283.2	NM_015609		ATTGT	16719769	-	ATTGT	16719768	7	5	149	1	0	1	1	0	0	0	0	0	2002	535	19	0	157	0	C1orf144	1	16719768	Frame_Shift_Ins	INS	-	TCGA-13-1509-01A-01W-0549-09		16719768	232530853	1	8207											
BRDT	676	genome.wustl.edu	37	1	92441891	92441891	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:92441891T>G	ENST00000362005.3	+	6	932	c.514T>G	c.(514-516)Ttt>Gtt	p.F172V	BRDT_ENST00000394530.3_Missense_Mutation_p.F126V|BRDT_ENST00000402388.1_Missense_Mutation_p.F172V|BRDT_ENST00000370389.2_Missense_Mutation_p.F99V|BRDT_ENST00000399546.2_Missense_Mutation_p.F172V	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	172					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.F172V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAAAAAGTATTTAAGCAGCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											81	81	81					1																	92441891		2203	4300	6503	92214479	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.514T>G	1.37:g.92441891T>G	ENSP00000354568:p.Phe172Val		92214479	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	T	2.052	-0.417503	0.04766	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000394530;ENST00000440509;ENST00000426141;ENST00000402388	T;T;T;T;T;T;T;T	0.17854	3.41;3.41;3.41;2.25;3.47;2.27;3.08;3.41	4.97	-6.57	0.01842	.	1.076080	0.07168	N	0.851913	T	0.01765	0.0056	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.15473	0.005;0.013;0.002;0.005	B;B;B;B	0.11329	0.006;0.005;0.003;0.006	T	0.39643	-0.9604	10	0.06625	T	0.88	-0.9143	2.6067	0.04880	0.1229:0.3547:0.3169:0.2055	.	126;126;176;172	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	V	172;99;172;172;172;126;172;172;172	ENSP00000354568:F172V;ENSP00000359416:F99V;ENSP00000387822:F172V;ENSP00000396351:F172V;ENSP00000378038:F126V;ENSP00000416714:F172V;ENSP00000404969:F172V;ENSP00000384051:F172V	ENSP00000354568:F172V	F	+	1	0	BRDT	92214479	0.027000	0.19231	0.000000	0.03702	0.167000	0.22549	-0.231000	0.09069	-0.861000	0.04094	0.454000	0.30748	TTT		0.403	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		G	92441891	T	G	92441891	3	3	149	1	0	0	0	0	1	0	0	0	1508	1493	52	5	528	5	BRDT	1	92441891	Missense_Mutation	SNP	T	TCGA-13-1509-01A-01W-0549-09	75722123	92441891	156808730	2	8208											
ZNF687	57592	genome.wustl.edu	37	1	151259272	151259272	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:151259272G>A	ENST00000368879.2	+	2	603	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	169	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E169K(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTGGCCCTGAGCCAGGGGA	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											48	52	51					1																	151259272		2203	4300	6503	149525896	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.505G>A	1.37:g.151259272G>A	ENSP00000357874:p.Glu169Lys		149525896	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37		.	.	.	.	.	.	.	.	.	.	G	11.52	1.664028	0.29604	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00824	5.65;5.65;5.99	4.65	3.7	0.42460	.	0.000000	0.35739	N	0.003014	T	0.00815	0.0027	L	0.29908	0.895	0.31200	N	0.699868	D;D;D	0.67145	0.996;0.97;0.996	D;P;D	0.76071	0.987;0.676;0.987	T	0.55585	-0.8118	9	.	.	.	.	4.5566	0.12140	0.1804:0.1964:0.6232:0.0	.	169;169;169	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	K	169	ENSP00000336620:E169K;ENSP00000319829:E169K;ENSP00000357874:E169K	.	E	+	1	0	ZNF687	149525896	1.000000	0.71417	0.985000	0.45067	0.176000	0.22953	3.156000	0.50708	1.142000	0.42291	0.462000	0.41574	GAG		0.612	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		A	151259272	G	A	151259272	3	1	149	1	0	0	0	0	1	0	0	0	18092	1291	45	2	507	2	ZNF687	1	151259272	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	58817381	151259272	97991349	3	8209											
FLAD1	80308	genome.wustl.edu	37	1	154960800	154960800	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:154960800G>C	ENST00000292180.3	+	2	914	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	FLAD1_ENST00000368431.3_Missense_Mutation_p.E99Q|FLAD1_ENST00000315144.10_Missense_Mutation_p.E101Q|FLAD1_ENST00000368432.1_Missense_Mutation_p.E101Q|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.E99Q|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368433.1_Missense_Mutation_p.E198Q|FLAD1_ENST00000295530.2_5'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	198	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.E198Q(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTTTGGAGATGAGCTGAAGCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											94	95	95					1																	154960800		2203	4300	6503	153227424	SO:0001583	missense	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.592G>C	1.37:g.154960800G>C	ENSP00000292180:p.Glu198Gln		153227424	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213675	0.39102	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.71	2.4	0.29515	Molybdopterin binding (4);	0.341926	0.33691	N	0.004653	T	0.53626	0.1808	L	0.56340	1.77	0.39892	D	0.973787	B;B	0.18610	0.006;0.029	B;B	0.18871	0.023;0.017	T	0.54523	-0.8281	10	0.30854	T	0.27	-14.9615	6.5718	0.22543	0.148:0.5878:0.2642:0.0	.	198;99	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	Q	198;101;101;99;198;99	ENSP00000357418:E198Q;ENSP00000317296:E101Q;ENSP00000357417:E101Q;ENSP00000357416:E99Q;ENSP00000292180:E198Q;ENSP00000384323:E99Q	ENSP00000292180:E198Q	E	+	1	0	FLAD1	153227424	0.807000	0.29009	1.000000	0.80357	0.995000	0.86356	0.990000	0.29642	1.397000	0.46682	0.563000	0.77884	GAG		0.577	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		C	154960800	G	C	154960800	3	2	149	1	0	0	0	0	1	0	0	0	5920	1291	45	3	673	3	FLAD1	1	154960800	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	3701528	154960800	94289821	4	8210											
FCRL3	115352	genome.wustl.edu	37	1	157667154	157667154	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:157667154A>T	ENST00000368184.3	-	6	911	c.620T>A	c.(619-621)aTg>aAg	p.M207K	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.M207K|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	207	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M207K(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGTCAGGGTCATGGGACTCCC	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											68	73	71					1																	157667154		2203	4300	6503	155933778	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.620T>A	1.37:g.157667154A>T	ENSP00000357167:p.Met207Lys		155933778	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668207	0.67814	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.11169	2.8;2.8	5.54	4.4	0.53042	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.778438	0.10426	U	0.676119	T	0.16085	0.0387	M	0.74546	2.27	0.26911	N	0.96689	P;P	0.46987	0.888;0.864	P;P	0.57283	0.817;0.721	T	0.12268	-1.0554	10	0.87932	D	0	.	10.8897	0.46988	0.8418:0.1582:0.0:0.0	.	207;207	Q96P31;Q96P31-6	FCRL3_HUMAN;.	K	207	ENSP00000357169:M207K;ENSP00000357167:M207K	ENSP00000292392:M207K	M	-	2	0	FCRL3	155933778	0.923000	0.31300	0.731000	0.30826	0.721000	0.41392	4.883000	0.63128	0.908000	0.36671	0.402000	0.26972	ATG		0.552	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		T	157667154	A	T	157667154	3	4	149	1	0	0	0	0	1	0	0	0	5796	217	8	5	1624	5	FCRL3	1	157667154	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	2706354	157667154	91583467	5	8211											
PIGM	93183	genome.wustl.edu	37	1	160000753	160000753	+	Silent	SNP	A	A	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:160000753A>G	ENST00000368090.2	-	1	1030	c.777T>C	c.(775-777)ttT>ttC	p.F259F		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	259					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.F259F(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGGTGATAAAAGTAGGTGT	0.453																																																1	Substitution - coding silent(1)	ovary(1)	1											133	133	133					1																	160000753		2203	4300	6503	158267377	SO:0001819	synonymous_variant	93183			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	18858	protein-coding gene	gene with protein product	"GPI mannosyltransferase 1", "DPM:GlcN-(acyl-)PI mannosyltransferase", "dol-P-Man dependent GPI mannosyltransferase"	610273	"phosphatidylinositol glycan, class M"			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.777T>C	1.37:g.160000753A>G			158267377		Silent	SNP	ENST00000368090.2	37	CCDS1192.1																																																																																				0.453	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		G	160000753	A	G	160000753	2	3	149	1	0	0	0	0	0	0	0	1	11892	11	1	4		4	PIGM	1	160000753	Silent	SNP	A	TCGA-13-1509-01A-01W-0549-09	2333599	160000753	89249868	6	8212											
LAMC1	3915	genome.wustl.edu	37	1	183079748	183079748	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:183079748C>G	ENST00000258341.4	+	4	1237	c.980C>G	c.(979-981)cCg>cGg	p.P327R		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	327	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P327R(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AATGACCGGCCGTGGAGGAGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											183	180	181					1																	183079748		2203	4300	6503	181346371	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.980C>G	1.37:g.183079748C>G	ENSP00000258341:p.Pro327Arg		181346371	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617569	0.87359	.	.	ENSG00000135862	ENST00000258341	T	0.62232	0.04	4.72	4.72	0.59763	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.81640	0.4865	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85411	0.1137	10	0.72032	D	0.01	.	17.6574	0.88181	0.0:1.0:0.0:0.0	.	327	P11047	LAMC1_HUMAN	R	327	ENSP00000258341:P327R	ENSP00000258341:P327R	P	+	2	0	LAMC1	181346371	1.000000	0.71417	0.971000	0.41717	0.867000	0.49689	7.529000	0.81952	2.161000	0.67846	0.305000	0.20034	CCG		0.473	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		G	183079748	C	G	183079748	3	3	149	1	0	0	0	0	1	0	0	0	8614	652	23	3	994	3	LAMC1	1	183079748	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	23078995	183079748	66170873	7	8213											
NCF2	4688	genome.wustl.edu	37	1	183543622	183543622	+	Splice_Site	SNP	C	C	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:183543622C>G	ENST00000367535.3	-	4	752	c.501G>C	c.(499-501)tgG>tgC	p.W167C	NCF2_ENST00000413720.1_Intron|NCF2_ENST00000367536.1_Splice_Site_p.W167C|NCF2_ENST00000418089.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	167					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.W167C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ATACGCTTACCCAGACACACT	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											347	318	327					1																	183543622		2203	4300	6503	181810245	SO:0001630	splice_region_variant	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.501+1G>C	1.37:g.183543622C>G			181810245	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467939	0.63625	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000367535	T;T	0.65364	-0.15;-0.15	5.32	5.32	0.75619	Tetratricopeptide-like helical (1);	0.060187	0.64402	D	0.000002	T	0.69151	0.3079	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	P	0.61003	0.882	T	0.67499	-0.5655	9	.	.	.	0.018	11.7759	0.51985	0.0:0.9194:0.0:0.0806	.	167	P19878	NCF2_HUMAN	C	167;195;167	ENSP00000356506:W167C;ENSP00000356505:W167C	.	W	-	3	0	NCF2	181810245	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.670000	0.46833	2.647000	0.89833	0.655000	0.94253	TGG		0.463	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433	Missense_Mutation	G	183543622	C	G	183543622	5	3	149	1	0	0	0	0	0	0	1	0	10217	637	22	3	1127	3	NCF2	1	183543622	Splice_Site	SNP	C	TCGA-13-1509-01A-01W-0549-09	463874	183543622	65706999	8	8214											
LMOD1	25802	genome.wustl.edu	37	1	201869210	201869210	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:201869210C>T	ENST00000367288.4	-	2	1177	c.931G>A	c.(931-933)Gag>Aag	p.E311K	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	311					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.E311K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCTGCCTCCTCCTCCACCTTG	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											66	66	66					1																	201869210		2046	4193	6239	200135833	SO:0001583	missense	25802			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.931G>A	1.37:g.201869210C>T	ENSP00000356257:p.Glu311Lys		200135833	B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672553	0.67928	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91686	-2.89	5.19	5.19	0.71726	.	0.000000	0.40385	N	0.001120	D	0.94235	0.8149	M	0.70903	2.155	0.42318	D	0.992249	D;D	0.62365	0.988;0.991	P;P	0.57204	0.76;0.815	D	0.94643	0.7832	10	0.62326	D	0.03	-35.2165	14.2045	0.65725	0.0:1.0:0.0:0.0	.	260;311	B4E3S9;P29536	.;LMOD1_HUMAN	K	311;311;260	ENSP00000356257:E311K	ENSP00000356257:E311K	E	-	1	0	LMOD1	200135833	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	5.824000	0.69279	2.427000	0.82271	0.505000	0.49811	GAG		0.542	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			T	201869210	C	T	201869210	3	4	149	1	0	0	0	0	1	0	0	0	8856	864	30	2	879	2	LMOD1	1	201869210	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	18325588	201869210	47381411	9	8215											
ARL8A	127829	genome.wustl.edu	37	1	202104865	202104865	+	Silent	SNP	T	T	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:202104865T>C	ENST00000272217.2	-	4	510	c.342A>G	c.(340-342)ctA>ctG	p.L114L	ARL8A_ENST00000486225.1_5'UTR	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	114					chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|mitotic nuclear division (GO:0007067)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L114L(1)		large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GTTTGTCCAGTAGGTTGTGGA	0.592											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	1											115	99	105					1																	202104865		2203	4300	6503	200371488	SO:0001819	synonymous_variant	127829			BC015408	CCDS1421.1, CCDS73004.1	1q32.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000143862	ENSG00000143862		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25192	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10B"	ARL10B		8889548	Standard	NM_001256129		Approved	FLJ45195, Gie2	uc001gxk.2	Q96BM9	OTTHUMG00000035923	ENST00000272217.2:c.342A>G	1.37:g.202104865T>C		2126	200371488	B3KXD0	Silent	SNP	ENST00000272217.2	37	CCDS1421.1																																																																																				0.592	ARL8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087493.1	NM_138795		C	202104865	T	C	202104865	2	2	149	1	0	0	0	0	0	0	0	1	946	1625	57	4		4	ARL8A	1	202104865	Silent	SNP	T	TCGA-13-1509-01A-01W-0549-09	235655	202104865	47145756	10	8216											
CENPF	1063	genome.wustl.edu	37	1	214815579	214815579	+	Silent	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:214815579C>T	ENST00000366955.3	+	12	4066	c.3898C>T	c.(3898-3900)Ctg>Ttg	p.L1300L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.L1300L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AATGAACAAGCTGAATGAGCT	0.403																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - coding silent(1)	ovary(1)	1											71	70	70					1																	214815579		2203	4300	6503	212882202	SO:0001819	synonymous_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3898C>T	1.37:g.214815579C>T			212882202	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																				0.403	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214815579	C	T	214815579	2	4	149	1	0	0	0	0	0	0	0	1	3231	796	28	2		2	CENPF	1	214815579	Silent	SNP	C	TCGA-13-1509-01A-01W-0549-09	12710714	214815579	34435042	11	8217											
KIF26B	55083	genome.wustl.edu	37	1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	rs199933797		TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr1:245862232G>A	ENST00000407071.2	+	14	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1643H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													G|||	1	0.000199681	0	0	5008	,	,		19181	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											73	78	76					1																	245862232		2085	4213	6298	243928855	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6071G>A	1.37:g.245862232G>A	ENSP00000385545:p.Arg2024His		243928855	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.7	4.184039	0.78677	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87103	-2.21;-2.2	5.82	5.82	0.92795	.	.	.	.	.	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93435	0.6789	9	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	2024	Q2KJY2	KI26B_HUMAN	H	2024;1643;1640	ENSP00000385545:R2024H;ENSP00000355475:R1643H	ENSP00000355475:R1643H	R	+	2	0	KIF26B	243928855	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	8.033000	0.88852	2.752000	0.94435	0.655000	0.94253	CGC		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		A	245862232	G	A	245862232	3	1	149	1	0	0	0	0	1	0	0	0	8295	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	31046653	245862232	3388389	12	8218											
ST6GAL2	84620	genome.wustl.edu	37	2	107449085	107449085	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr2:107449085G>A	ENST00000409382.3	-	4	1689	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S360L|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S360L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	360					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.S360L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTTATACAGTGAACTGTCAAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											93	92	92					2																	107449085		2203	4300	6503	106815517	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1079C>T	2.37:g.107449085G>A	ENSP00000386942:p.Ser360Leu		106815517	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483833	0.84854	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.78924	-1.22;-1.22;-1.22	6.17	6.17	0.99709	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.291647	0.39985	N	0.001207	T	0.79203	0.4406	L	0.58669	1.825	0.58432	D	0.999998	B;B	0.31209	0.313;0.082	B;B	0.35114	0.097;0.196	T	0.76846	-0.2808	10	0.62326	D	0.03	-5.8642	19.8676	0.96824	0.0:0.0:1.0:0.0	.	360;360	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	360	ENSP00000355273:S360L;ENSP00000386942:S360L;ENSP00000387332:S360L	ENSP00000355273:S360L	S	-	2	0	ST6GAL2	106815517	1.000000	0.71417	0.926000	0.36857	0.936000	0.57629	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	TCA		0.443	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		A	107449085	G	A	107449085	3	1	149	1	0	0	0	0	1	0	0	0	15224	1294	45	2	609	2	ST6GAL2	2	107449085	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09		107449085	135750288	13	8219											
DDX18	8886	genome.wustl.edu	37	2	118586875	118586875	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr2:118586875T>C	ENST00000263239.2	+	13	1831	c.1703T>C	c.(1702-1704)tTg>tCg	p.L568S		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	568	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.L568S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTGAGAAATTGATTGAAAAG	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											59	63	62					2																	118586875		2202	4299	6501	118303345	SO:0001583	missense	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1703T>C	2.37:g.118586875T>C	ENSP00000263239:p.Leu568Ser		118303345	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.056694	0.76074	.	.	ENSG00000088205	ENST00000263239;ENST00000539346	T	0.02631	4.22	4.67	4.67	0.58626	Helicase, C-terminal (1);	1.868490	0.02616	N	0.102648	T	0.27063	0.0663	M	0.93854	3.465	0.80722	D	1	D	0.67145	0.996	D	0.75020	0.985	T	0.00128	-1.2017	10	0.87932	D	0	.	13.1247	0.59346	0.0:0.0:0.0:1.0	.	568	Q9NVP1	DDX18_HUMAN	S	568;307	ENSP00000263239:L568S	ENSP00000263239:L568S	L	+	2	0	DDX18	118303345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.275000	0.78548	2.098000	0.63641	0.528000	0.53228	TTG		0.328	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		C	118586875	T	C	118586875	3	2	149	1	0	0	0	0	1	0	0	0	4345	1821	63	4	1753	4	DDX18	2	118586875	Missense_Mutation	SNP	T	TCGA-13-1509-01A-01W-0549-09	11137790	118586875	124612498	14	8220											
MAP3K2	10746	genome.wustl.edu	37	2	128072395	128072395	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr2:128072395G>C	ENST00000409947.1	-	15	1673	c.1391C>G	c.(1390-1392)aCc>aGc	p.T464S	RNU6-1147P_ENST00000363380.1_RNA|MAP3K2_ENST00000344908.5_Missense_Mutation_p.T464S			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	464	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.T465S(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	AATCTGACGGGTGTATTTCCT	0.343																																																1	Substitution - Missense(1)	ovary(1)	2											99	95	96					2																	128072395		1832	4074	5906	127788865	SO:0001583	missense	10746			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1391C>G	2.37:g.128072395G>C	ENSP00000387246:p.Thr464Ser		127788865	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659213	0.67586	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.64991	-0.13;-0.13	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045018	0.85682	D	0.000000	T	0.65565	0.2703	L	0.49455	1.56	0.58432	D	0.999999	P	0.34997	0.479	B	0.41813	0.367	T	0.68135	-0.5489	10	0.62326	D	0.03	.	18.7661	0.91873	0.0:0.0:1.0:0.0	.	464	Q9Y2U5	M3K2_HUMAN	S	464	ENSP00000387246:T464S;ENSP00000343463:T464S	ENSP00000343463:T464S	T	-	2	0	MAP3K2	127788865	1.000000	0.71417	0.995000	0.50966	0.929000	0.56500	7.844000	0.86867	2.452000	0.82932	0.591000	0.81541	ACC		0.343	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		C	128072395	G	C	128072395	3	2	149	1	0	0	0	0	1	0	0	0	9250	1261	44	3	480	3	MAP3K2	2	128072395	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	9485520	128072395	115126978	15	8221											
MBD5	55777	genome.wustl.edu	37	2	149247806	149247806	+	Silent	SNP	A	A	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr2:149247806A>C	ENST00000407073.1	+	12	4903	c.3906A>C	c.(3904-3906)ggA>ggC	p.G1302G	MBD5_ENST00000404807.1_Silent_p.G1535G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1302					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G1302G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGGGATTTGGAGAGCTGCTAA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	2											60	62	61					2																	149247806		2203	4300	6503	148964276	SO:0001819	synonymous_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3906A>C	2.37:g.149247806A>C			148964276	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1																																																																																				0.433	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			C	149247806	A	C	149247806	2	2	149	1	0	0	0	0	0	0	0	1	9347	291	11	5		5	MBD5	2	149247806	Silent	SNP	A	TCGA-13-1509-01A-01W-0549-09	21175411	149247806	93951567	16	8222											
SCN2A	6326	genome.wustl.edu	37	2	166170174	166170174	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr2:166170174C>T	ENST00000375437.2	+	9	1369	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	SCN2A_ENST00000357398.3_Missense_Mutation_p.P360L|SCN2A_ENST00000283256.6_Missense_Mutation_p.P360L|SCN2A_ENST00000375427.2_Missense_Mutation_p.P360L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	360					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P360L(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTAGAAACCCCAACTATGGC	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											151	141	144					2																	166170174		2203	4300	6503	165878420	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1079C>T	2.37:g.166170174C>T	ENSP00000364586:p.Pro360Leu		165878420	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235749	0.95240	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12	5.77	5.77	0.91146	Ion transport (1);	0.178028	0.40385	N	0.001114	D	0.99396	0.9787	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98886	1.0771	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	360;360	Q99250-2;Q99250	.;SCN2A_HUMAN	L	360	ENSP00000406454:P360L;ENSP00000364586:P360L;ENSP00000349973:P360L;ENSP00000283256:P360L;ENSP00000364576:P360L	ENSP00000283256:P360L	P	+	2	0	SCN2A	165878420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CCC		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166170174	C	T	166170174	3	4	149	1	0	0	0	0	1	0	0	0	13919	623	22	2	1205	2	SCN2A	2	166170174	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	16922368	166170174	77029199	17	8223											
SCN1A	6323	genome.wustl.edu	37	2	166852529	166852529	+	Silent	SNP	T	T	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr2:166852529T>A	ENST00000303395.4	-	24	4574	c.4575A>T	c.(4573-4575)cgA>cgT	p.R1525R	SCN1A_ENST00000423058.2_Silent_p.R1525R|SCN1A_ENST00000375405.3_Silent_p.R1514R|SCN1A_ENST00000409050.1_Silent_p.R1497R|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1525					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1514R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTACTCCTGGTCGAGGTATAG	0.343																																																1	Substitution - coding silent(1)	ovary(1)	2											116	112	113					2																	166852529		2203	4299	6502	166560775	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4575A>T	2.37:g.166852529T>A			166560775	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.343	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		A	166852529	T	A	166852529	2	1	149	1	0	0	0	0	0	0	0	1	13917	1654	58	5		5	SCN1A	2	166852529	Silent	SNP	T	TCGA-13-1509-01A-01W-0549-09	682355	166852529	76346844	18	8224											
TTN	7273	genome.wustl.edu	37	2	179616505	179616505	+	Intron	SNP	T	T	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr2:179616505T>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.N3541I|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N3541I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGGGCCGATTGTTATGAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											81	82	82					2																	179616505		2203	4300	6503	179324750	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1345A>T	2.37:g.179616505T>A			179324750	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.71	2.317138	0.40996	.	.	ENSG00000155657	ENST00000360870	T	0.45668	0.89	5.86	3.49	0.39957	.	.	.	.	.	T	0.65186	0.2667	M	0.88570	2.965	0.80722	D	1	P	0.50369	0.934	P	0.60286	0.872	T	0.67150	-0.5743	9	0.59425	D	0.04	.	12.2643	0.54668	0.0:0.128:0.0:0.872	.	3541	Q8WZ42-6	.	I	3541	ENSP00000354117:N3541I	ENSP00000354117:N3541I	N	-	2	0	TTN	179324750	1.000000	0.71417	0.341000	0.25589	0.621000	0.37620	2.894000	0.48640	0.137000	0.18759	-1.139000	0.01908	AAT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179616505	T	A	179616505	1	1	149	0	1	0	0	0	0	0	0	0	16735	1493	52	5		5	TTN	2	179616505	Intron	SNP	T	TCGA-13-1509-01A-01W-0549-09	12763976	179616505	63582868	19	8225											
RHBDD1	84236	genome.wustl.edu	37	2	227778996	227778996	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr2:227778996A>G	ENST00000341329.3	+	6	1027	c.785A>G	c.(784-786)gAc>gGc	p.D262G	RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000392062.2_Missense_Mutation_p.D262G|RHBDD1_ENST00000409053.1_Missense_Mutation_p.D96G	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	262					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.D262G(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		AGGAACTATGACACGTACACA	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											123	119	121					2																	227778996		2203	4300	6503	227487240	SO:0001583	missense	84236			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.785A>G	2.37:g.227778996A>G	ENSP00000344779:p.Asp262Gly		227487240	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.662232	0.29515	.	.	ENSG00000144468	ENST00000341329;ENST00000392062;ENST00000409053	T;T	0.45668	0.89;0.89	6.06	4.9	0.64082	.	0.326994	0.34676	N	0.003766	T	0.43366	0.1244	L	0.56769	1.78	0.23314	N	0.997922	P;B	0.51351	0.944;0.009	P;B	0.47075	0.536;0.005	T	0.31251	-0.9950	10	0.27082	T	0.32	-11.713	10.4493	0.44513	0.8366:0.1634:0.0:0.0	.	53;262	Q8TEB9-2;Q8TEB9	.;RHBD1_HUMAN	G	262;262;96	ENSP00000344779:D262G;ENSP00000375914:D262G	ENSP00000344779:D262G	D	+	2	0	RHBDD1	227487240	0.761000	0.28439	0.194000	0.23346	0.426000	0.31534	2.084000	0.41625	1.087000	0.41251	0.528000	0.53228	GAC		0.488	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			G	227778996	A	G	227778996	3	3	149	1	0	0	0	0	1	0	0	0	13319	275	10	4	803	4	RHBDD1	2	227778996	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	48162491	227778996	15420377	20	8226											
SP110	3431	genome.wustl.edu	37	2	231036820	231036820	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr2:231036820T>A	ENST00000358662.4	-	16	1855	c.1777A>T	c.(1777-1779)Aag>Tag	p.K593*	AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000600787.1_RNA|AC009950.2_ENST00000609120.1_RNA|SP110_ENST00000258381.6_Nonsense_Mutation_p.K593*|AC009950.2_ENST00000454058.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	593	Bromo.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.K593*(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCCAGGGTCTTAGATACATGA	0.522																																																1	Substitution - Nonsense(1)	ovary(1)	2											162	151	155					2																	231036820		2203	4300	6503	230745064	SO:0001587	stop_gained	3431			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1777A>T	2.37:g.231036820T>A	ENSP00000351488:p.Lys593*		230745064	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Nonsense_Mutation	SNP	ENST00000358662.4	37	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	T	35	5.532640	0.96446	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	.	.	.	3.42	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	3.7056	0.08400	0.0:0.5852:0.2591:0.1556	.	.	.	.	X	593	.	ENSP00000258381:K593X	K	-	1	0	SP110	230745064	0.023000	0.18921	0.027000	0.17364	0.020000	0.10135	-0.045000	0.12003	0.707000	0.31934	-0.468000	0.05107	AAG		0.522	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		A	231036820	T	A	231036820	4	1	149	1	0	0	0	0	0	1	0	0	14964	1763	61	5	380	5	SP110	2	231036820	Nonsense_Mutation	SNP	T	TCGA-13-1509-01A-01W-0549-09	3257824	231036820	12162553	21	8227											
CNTN4	152330	genome.wustl.edu	37	3	3030054	3030054	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr3:3030054C>T	ENST00000397461.1	+	13	1768	c.1384C>T	c.(1384-1386)Ctc>Ttc	p.L462F	CNTN4_ENST00000427331.1_Missense_Mutation_p.L462F|CNTN4_ENST00000358480.3_Missense_Mutation_p.L243F|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Missense_Mutation_p.L134F|CNTN4_ENST00000397459.2_Missense_Mutation_p.L134F|CNTN4_ENST00000418658.1_Missense_Mutation_p.L462F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	462	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.L134F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGATGGAAACCTCAGAATCAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	3											86	86	86					3																	3030054		2203	4300	6503	3005054	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1384C>T	3.37:g.3030054C>T	ENSP00000380602:p.Leu462Phe		3005054	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533869	0.85812	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.89030	3	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.997	D	0.87623	0.2511	10	0.87932	D	0	.	13.5594	0.61779	0.0:0.9289:0.0:0.0711	.	462;462;462	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	F	462;462;462;243;134;134	ENSP00000396010:L462F;ENSP00000380602:L462F;ENSP00000413642:L462F;ENSP00000351267:L243F;ENSP00000380600:L134F;ENSP00000392077:L134F	ENSP00000351267:L243F	L	+	1	0	CNTN4	3005054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.576000	0.67437	2.885000	0.99019	0.655000	0.94253	CTC		0.358	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			T	3030054	C	T	3030054	3	4	149	1	0	0	0	0	1	0	0	0	3643	681	24	2	1426	2	CNTN4	3	3030054	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09		3030054	194992376	22	8228											
AZI2	64343	genome.wustl.edu	37	3	28380107	28380107	+	Splice_Site	SNP	C	C	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr3:28380107C>G	ENST00000479665.1	-	3	748		c.e3-1		AZI2_ENST00000457172.1_Splice_Site|AZI2_ENST00000420543.2_Splice_Site|AZI2_ENST00000334100.6_Splice_Site|AZI2_ENST00000295748.3_Splice_Site	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2						dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)		p.?(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GAGCTATTAGCTAACGGTATG	0.343																																																1	Unknown(1)	ovary(1)	3											82	74	77					3																	28380107		2201	4300	6501	28355111	SO:0001630	splice_region_variant	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.217-1G>C	3.37:g.28380107C>G			28355111	A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Splice_Site	SNP	ENST00000479665.1	37	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650147	0.47362	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162;ENST00000415852	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.98	0.86324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AZI2	28355111	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.488000	0.53229	2.699000	0.92147	0.591000	0.81541	.		0.343	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326	Intron	G	28380107	C	G	28380107	5	3	149	1	0	0	0	0	0	0	1	0	1241	811	28	3	1075	3	AZI2	3	28380107	Splice_Site	SNP	C	TCGA-13-1509-01A-01W-0549-09	25350053	28380107	169642323	23	8229											
SCN10A	6336	genome.wustl.edu	37	3	38793973	38793973	+	Missense_Mutation	SNP	G	G	A	rs377467259		TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr3:38793973G>A	ENST00000449082.2	-	11	1491	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	498					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R498W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGACTAGCCCGGCGTTTTCCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	3						G	TRP/ARG	0,4406		0,0,2203	27	30	29		1492	0.4	1	3		29	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN10A	NM_006514.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	498/1957	38793973	1,13005	2203	4300	6503	38768977	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1492C>T	3.37:g.38793973G>A	ENSP00000390600:p.Arg498Trp		38768977	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407818	0.62399	0.0	1.16E-4	ENSG00000185313	ENST00000449082	D	0.96745	-4.11	4.8	0.377	0.16198	.	1.287940	0.05801	N	0.612182	D	0.97445	0.9164	L	0.56769	1.78	0.24767	N	0.992891	D	0.89917	1.0	D	0.63957	0.92	D	0.91242	0.5022	10	0.87932	D	0	.	15.8281	0.78730	0.0:0.0:0.3752:0.6247	.	498	Q9Y5Y9	SCNAA_HUMAN	W	498	ENSP00000390600:R498W	ENSP00000390600:R498W	R	-	1	2	SCN10A	38768977	0.549000	0.26481	0.985000	0.45067	0.912000	0.54170	0.212000	0.17497	0.248000	0.21435	0.455000	0.32223	CGG		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38793973	G	A	38793973	3	1	149	1	0	0	0	0	1	0	0	0	13915	1115	39	1	4446	1	SCN10A	3	38793973	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	10413866	38793973	159228457	24	8230											
BSN	8927	genome.wustl.edu	37	3	49695017	49695017	+	Silent	SNP	G	G	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr3:49695017G>A	ENST00000296452.4	+	5	8142	c.8028G>A	c.(8026-8028)acG>acA	p.T2676T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2676					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.T2676T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGTGCAGACGGAGCCTGACC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	3											45	46	46					3																	49695017		2203	4300	6503	49670021	SO:0001819	synonymous_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8028G>A	3.37:g.49695017G>A			49670021	O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	CCDS2800.1																																																																																				0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49695017	G	A	49695017	2	1	149	1	0	0	0	0	0	0	0	1	1530	1103	39	1		1	BSN	3	49695017	Silent	SNP	G	TCGA-13-1509-01A-01W-0549-09	10901044	49695017	148327413	25	8231											
ARHGAP31	57514	genome.wustl.edu	37	3	119133103	119133103	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr3:119133103A>C	ENST00000264245.4	+	12	2859	c.2327A>C	c.(2326-2328)aAt>aCt	p.N776T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	776	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.N776T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGCCCAGGCAATCTGTCTCCT	0.582																																					Pancreas(7;176 297 5394 51128 51241)											1	Substitution - Missense(1)	ovary(1)	3											54	58	56					3																	119133103		1948	4147	6095	120615793	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2327A>C	3.37:g.119133103A>C	ENSP00000264245:p.Asn776Thr		120615793	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340695	0.41498	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07327	3.2	5.3	4.11	0.48088	.	0.363586	0.26522	N	0.023912	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.26677	-1.0096	10	0.72032	D	0.01	.	9.3552	0.38161	0.9175:0.0:0.0825:0.0	.	776	Q2M1Z3	RHG31_HUMAN	T	776	ENSP00000264245:N776T	ENSP00000264245:N776T	N	+	2	0	ARHGAP31	120615793	0.087000	0.21565	0.024000	0.17045	0.101000	0.19017	1.302000	0.33459	2.225000	0.72522	0.533000	0.62120	AAT		0.582	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			C	119133103	A	C	119133103	3	2	149	1	0	0	0	0	1	0	0	0	880	101	4	5	2373	5	ARHGAP31	3	119133103	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	69438086	119133103	78889327	26	8232											
HPS3	84343	genome.wustl.edu	37	3	148885694	148885694	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr3:148885694A>C	ENST00000296051.2	+	16	2951	c.2811A>C	c.(2809-2811)aaA>aaC	p.K937N	HPS3_ENST00000460120.1_Missense_Mutation_p.K772N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	937					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.K937N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTGGTGGAAAAAACTGTTGC	0.318									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	ovary(1)	3											91	96	94					3																	148885694		2203	4299	6502	150368384	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2811A>C	3.37:g.148885694A>C	ENSP00000296051:p.Lys937Asn		150368384	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.920076	0.33908	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.66460	-0.21;-0.21	5.68	2.07	0.26955	.	0.235751	0.50627	D	0.000103	T	0.41903	0.1179	L	0.27053	0.805	0.80722	D	1	B;B	0.28880	0.226;0.126	B;B	0.21151	0.033;0.018	T	0.13683	-1.0500	10	0.27785	T	0.31	-16.7649	1.3034	0.02083	0.453:0.1851:0.2403:0.1217	.	772;937	G5E9V4;Q969F9	.;HPS3_HUMAN	N	937;772	ENSP00000296051:K937N;ENSP00000418230:K772N	ENSP00000296051:K937N	K	+	3	2	HPS3	150368384	0.997000	0.39634	1.000000	0.80357	0.939000	0.58152	0.386000	0.20702	0.431000	0.26258	0.528000	0.53228	AAA		0.318	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		C	148885694	A	C	148885694	3	2	149	1	0	0	0	0	1	0	0	0	7340	11	1	5	2873	5	HPS3	3	148885694	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	29752591	148885694	49136736	27	8233											
CP	1356	genome.wustl.edu	37	3	148930323	148930323	+	Silent	SNP	A	A	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr3:148930323A>G	ENST00000264613.6	-	2	571	c.309T>C	c.(307-309)gaT>gaC	p.D103D		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	103	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.D103D(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CATAAACTTTATCTCCAGTTT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	3											119	120	119					3																	148930323		2203	4300	6503	150413013	SO:0001819	synonymous_variant	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.309T>C	3.37:g.148930323A>G			150413013	Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	CCDS3141.1																																																																																				0.388	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		G	148930323	A	G	148930323	2	3	149	1	0	0	0	0	0	0	0	1	3787	446	16	4		4	CP	3	148930323	Silent	SNP	A	TCGA-13-1509-01A-01W-0549-09	44629	148930323	49092107	28	8234											
LRCH3	84859	genome.wustl.edu	37	3	197559135	197559135	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr3:197559135G>C	ENST00000425562.2	+	8	1049	c.1049G>C	c.(1048-1050)aGa>aCa	p.R350T	LRCH3_ENST00000441090.2_Missense_Mutation_p.R224T|LRCH3_ENST00000414675.2_Missense_Mutation_p.R350T|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000438796.2_Missense_Mutation_p.R350T|LRCH3_ENST00000334859.4_Missense_Mutation_p.R350T|AC055764.1_ENST00000454526.1_RNA			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	350						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.R350T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGACTACGAAGAGAAAGCCAG	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											86	81	83					3																	197559135		2203	4300	6503	199043532	SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1049G>C	3.37:g.197559135G>C	ENSP00000393579:p.Arg350Thr		199043532	B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37		.	.	.	.	.	.	.	.	.	.	G	29.1	4.975941	0.92982	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.32988	2.01;1.43;2.05;2.26;2.03	5.51	5.51	0.81932	.	0.051413	0.85682	D	0.000000	T	0.47432	0.1445	L	0.34521	1.04	0.80722	D	1	D;D;D;B	0.89917	1.0;0.997;0.994;0.198	D;D;D;B	0.77004	0.959;0.989;0.925;0.171	T	0.40251	-0.9573	10	0.52906	T	0.07	-14.7564	19.4531	0.94876	0.0:0.0:1.0:0.0	.	224;350;350;350	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	T	350;224;350;350;350	ENSP00000399751:R350T;ENSP00000394609:R224T;ENSP00000394965:R350T;ENSP00000334375:R350T;ENSP00000393579:R350T	ENSP00000334375:R350T	R	+	2	0	LRCH3	199043532	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	8.428000	0.90278	2.601000	0.87937	0.585000	0.79938	AGA		0.398	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		C	197559135	G	C	197559135	3	2	149	1	0	0	0	0	1	0	0	0	8934	942	33	3	1079	3	LRCH3	3	197559135	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	48628812	197559135	463295	29	8235											
AASDH	132949	genome.wustl.edu	37	4	57204629	57204629	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr4:57204629A>G	ENST00000205214.6	-	15	3416	c.3236T>C	c.(3235-3237)aTt>aCt	p.I1079T	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000434343.2_Missense_Mutation_p.I594T|AASDH_ENST00000513376.1_Missense_Mutation_p.I979T	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1079					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.I1079T(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACACCCAATAATGAGCATTGA	0.353																																																1	Substitution - Missense(1)	ovary(1)	4											68	69	68					4																	57204629		2203	4300	6503	56899386	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3236T>C	4.37:g.57204629A>G	ENSP00000205214:p.Ile1079Thr		56899386	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541888	0.65198	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343	T;T;T	0.58506	0.33;0.33;0.33	6.04	6.04	0.98038	Quinonprotein alcohol dehydrogenase-like (2);	0.357028	0.33772	N	0.004576	T	0.54175	0.1842	M	0.66939	2.045	0.80722	D	1	P	0.38922	0.651	B	0.27887	0.084	T	0.61811	-0.6986	10	0.72032	D	0.01	-7.5725	16.6244	0.84952	1.0:0.0:0.0:0.0	.	1079	Q4L235	ACSF4_HUMAN	T	1079;979;594	ENSP00000205214:I1079T;ENSP00000423760:I979T;ENSP00000392158:I594T	ENSP00000205214:I1079T	I	-	2	0	AASDH	56899386	0.991000	0.36638	0.938000	0.37757	0.997000	0.91878	4.686000	0.61700	2.323000	0.78572	0.529000	0.55759	ATT		0.353	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		G	57204629	A	G	57204629	3	3	149	1	0	0	0	0	1	0	0	0	22	101	4	4	64	4	AASDH	4	57204629	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09		57204629	133949647	30	8236											
SLC4A4	8671	genome.wustl.edu	37	4	72316985	72316985	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr4:72316985A>T	ENST00000264485.5	+	11	1406	c.1289A>T	c.(1288-1290)cAt>cTt	p.H430L	SLC4A4_ENST00000512686.1_Missense_Mutation_p.H386L|SLC4A4_ENST00000340595.3_Missense_Mutation_p.H386L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.H430L|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.H430L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	430					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.H386L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GGAGGAGGACATGGGGATTGT	0.453																																																1	Substitution - Missense(1)	ovary(1)	4											223	179	194					4																	72316985		2203	4300	6503	72535849	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1289A>T	4.37:g.72316985A>T	ENSP00000264485:p.His430Leu		72535849	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019353	0.75275	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.78595	-1.19;-1.19;-0.83;0.01;-1.19	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.86952	0.6057	M	0.73962	2.25	0.80722	D	1	D;B;B;B;B;B	0.56287	0.975;0.342;0.097;0.203;0.008;0.048	P;B;B;B;B;B	0.62649	0.905;0.182;0.225;0.153;0.013;0.081	D	0.87313	0.2313	10	0.52906	T	0.07	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	430;430;386;386;410;430	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	L	430;430;430;386;386	ENSP00000264485:H430L;ENSP00000393557:H430L;ENSP00000307349:H430L;ENSP00000422400:H386L;ENSP00000344272:H386L	ENSP00000264485:H430L	H	+	2	0	SLC4A4	72535849	1.000000	0.71417	0.199000	0.23439	0.493000	0.33554	8.932000	0.92897	2.333000	0.79357	0.533000	0.62120	CAT		0.453	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		T	72316985	A	T	72316985	3	4	149	1	0	0	0	0	1	0	0	0	14659	217	8	5	1448	5	SLC4A4	4	72316985	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	15112356	72316985	118837291	31	8237											
CENPE	1062	genome.wustl.edu	37	4	104030037	104030037	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr4:104030037A>G	ENST00000265148.3	-	48	8023	c.7934T>C	c.(7933-7935)tTt>tCt	p.F2645S	CENPE_ENST00000380026.3_Missense_Mutation_p.F2524S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2645	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.F2608S(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCGGCTATCAAAAAAACAAGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	4											167	165	166					4																	104030037		2203	4300	6503	104249486	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7934T>C	4.37:g.104030037A>G	ENSP00000265148:p.Phe2645Ser		104249486	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.872802	0.51695	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.76186	-1.0;-0.95	5.19	3.95	0.45737	.	.	.	.	.	T	0.81470	0.4829	M	0.63843	1.955	0.19775	N	0.999954	D;B	0.71674	0.998;0.275	D;B	0.66351	0.943;0.076	T	0.69957	-0.5004	9	0.87932	D	0	.	8.4117	0.32646	0.8272:0.0:0.0:0.1728	.	2524;2645	Q02224-3;Q02224	.;CENPE_HUMAN	S	2645;2524	ENSP00000265148:F2645S;ENSP00000369365:F2524S	ENSP00000265148:F2645S	F	-	2	0	CENPE	104249486	0.996000	0.38824	0.531000	0.27976	0.562000	0.35680	1.204000	0.32296	1.959000	0.56917	0.533000	0.62120	TTT		0.373	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	104030037	A	G	104030037	3	3	149	1	0	0	0	0	1	0	0	0	3230	14	1	4	179	4	CENPE	4	104030037	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	31713052	104030037	87124239	32	8238											
MGST2	4258	genome.wustl.edu	37	4	140625270	140625270	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr4:140625270A>T	ENST00000265498.1	+	5	664	c.412A>T	c.(412-414)Aat>Tat	p.N138Y	MGST2_ENST00000515137.1_3'UTR|MGST2_ENST00000506797.1_3'UTR	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	138					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|leukotriene biosynthetic process (GO:0019370)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)	p.N138Y(1)		lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Busulfan(DB01008)|Glutathione(DB00143)	TCTGGACCTCAATATTGCCAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	4											119	113	115					4																	140625270		2203	4300	6503	140844720	SO:0001583	missense	4258			U77604	CCDS3749.1, CCDS56339.1	4q28.3	2012-06-21			ENSG00000085871	ENSG00000085871	2.5.1.18	"Glutathione S-transferases / Microsomal"	7063	protein-coding gene	gene with protein product		601733				8703034	Standard	NM_002413		Approved	MGST-II	uc003ihy.3	Q99735	OTTHUMG00000133382	ENST00000265498.1:c.412A>T	4.37:g.140625270A>T	ENSP00000265498:p.Asn138Tyr		140844720	D6RBB5|Q7Z5B8	Missense_Mutation	SNP	ENST00000265498.1	37	CCDS3749.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.519782	0.64634	.	.	ENSG00000085871	ENST00000265498	T	0.65549	-0.16	5.6	-3.48	0.04739	.	1.630570	0.03380	N	0.200329	T	0.53270	0.1786	L	0.50333	1.59	0.09310	N	1	B	0.26318	0.146	B	0.21917	0.037	T	0.44802	-0.9304	10	0.66056	D	0.02	-4.336	6.0493	0.19777	0.3364:0.331:0.3326:0.0	.	138	Q99735	MGST2_HUMAN	Y	138	ENSP00000265498:N138Y	ENSP00000265498:N138Y	N	+	1	0	MGST2	140844720	0.000000	0.05858	0.000000	0.03702	0.848000	0.48234	0.036000	0.13819	-0.891000	0.03940	0.533000	0.62120	AAT		0.448	MGST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257232.2	NM_002413		T	140625270	A	T	140625270	3	4	149	1	0	0	0	0	1	0	0	0	9561	130	5	5	430	5	MGST2	4	140625270	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	36595233	140625270	50529006	33	8239											
INPP4B	8821	genome.wustl.edu	37	4	143043396	143043396	+	Missense_Mutation	SNP	C	C	A	rs554325579		TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr4:143043396C>A	ENST00000513000.1	-	22	2453	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y	INPP4B_ENST00000262992.4_Missense_Mutation_p.D674Y|INPP4B_ENST00000308502.4_Missense_Mutation_p.D674Y|INPP4B_ENST00000508116.1_Missense_Mutation_p.D674Y|INPP4B_ENST00000509777.1_Missense_Mutation_p.D674Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	674					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.D674Y(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CCAATTTCATCGCCTAAACAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	4											74	72	72					4																	143043396		2203	4300	6503	143262846	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2020G>T	4.37:g.143043396C>A	ENSP00000425487:p.Asp674Tyr		143262846	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126960	0.77549	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.87	5.87	0.94306	.	0.105664	0.64402	D	0.000006	T	0.45617	0.1351	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	P	0.61275	0.886	T	0.31558	-0.9939	10	0.87932	D	0	.	20.2119	0.98289	0.0:1.0:0.0:0.0	.	674	O15327	INP4B_HUMAN	Y	674;674;674;545;674;674;489;489;674;545	ENSP00000425487:D674Y;ENSP00000262992:D674Y;ENSP00000308441:D674Y;ENSP00000423954:D674Y;ENSP00000422793:D674Y;ENSP00000426207:D489Y;ENSP00000427250:D674Y;ENSP00000421065:D545Y	ENSP00000262992:D674Y	D	-	1	0	INPP4B	143262846	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.473000	0.81007	2.784000	0.95788	0.585000	0.79938	GAT		0.373	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		A	143043396	C	A	143043396	3	1	149	1	0	0	0	0	1	0	0	0	7753	884	31	3	778	3	INPP4B	4	143043396	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	2418126	143043396	48110880	34	8240											
SPEF2	79925	genome.wustl.edu	37	5	35774001	35774001	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr5:35774001C>T	ENST00000356031.3	+	28	4110	c.3956C>T	c.(3955-3957)tCa>tTa	p.S1319L	SPEF2_ENST00000440995.2_Missense_Mutation_p.S1314L|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1319					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.S1319L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAGGTAAATCACCACCTATG	0.373																																																1	Substitution - Missense(1)	ovary(1)	5											71	64	66					5																	35774001		1862	4098	5960	35809758	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3956C>T	5.37:g.35774001C>T	ENSP00000348314:p.Ser1319Leu		35809758	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113259	0.77210	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.06687	3.28;3.27	5.76	4.9	0.64082	.	0.504369	0.20299	N	0.095073	T	0.12817	0.0311	M	0.65975	2.015	0.40168	D	0.97714	B;B	0.19073	0.033;0.011	B;B	0.22601	0.04;0.008	T	0.02015	-1.1229	10	0.62326	D	0.03	.	12.2155	0.54404	0.0:0.9199:0.0:0.0801	.	1314;1319	Q9C093-2;Q9C093	.;SPEF2_HUMAN	L	1319;1314	ENSP00000348314:S1319L;ENSP00000412125:S1314L	ENSP00000348314:S1319L	S	+	2	0	SPEF2	35809758	0.433000	0.25562	0.265000	0.24526	0.405000	0.30901	3.993000	0.56987	1.575000	0.49775	0.650000	0.86243	TCA		0.373	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		T	35774001	C	T	35774001	3	4	149	1	0	0	0	0	1	0	0	0	15037	838	29	2	4087	2	SPEF2	5	35774001	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09		35774001	145141259	35	8241											
HK3	3101	genome.wustl.edu	37	5	176323126	176323126	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr5:176323126C>T	ENST00000292432.5	-	2	126	c.35G>A	c.(34-36)gGg>gAg	p.G12E		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	12	Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.G12E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTTCTTCCCCCTGCCGCAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	5											52	53	53					5																	176323126		2203	4300	6503	176255732	SO:0001583	missense	3101				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.35G>A	5.37:g.176323126C>T	ENSP00000292432:p.Gly12Glu		176255732	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	7.735	0.700147	0.15106	.	.	ENSG00000160883	ENST00000292432	D	0.97279	-4.32	3.25	2.38	0.29361	.	0.431851	0.19939	N	0.102684	D	0.91436	0.7297	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	D	0.84130	0.0411	10	0.42905	T	0.14	.	6.4807	0.22061	0.0:0.8647:0.0:0.1353	.	12	P52790	HXK3_HUMAN	E	12	ENSP00000292432:G12E	ENSP00000292432:G12E	G	-	2	0	HK3	176255732	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.536000	0.23129	0.941000	0.37499	-0.258000	0.10820	GGG		0.552	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			T	176323126	C	T	176323126	3	4	149	1	0	0	0	0	1	0	0	0	7192	623	22	2	2808	2	HK3	5	176323126	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	140549125	176323126	4592134	36	8242											
HLA-A	3105	genome.wustl.edu	37	6	29910582	29910597	+	Frame_Shift_Del	DEL	GCGGGGAGCCCCGCTT	GCGGGGAGCCCCGCTT	-	rs41560112|rs45514001|rs281864729|rs386698550|rs199474366|rs72555395|rs1059426|rs281864728|rs199474365|rs61759956|rs41549014|rs45442596|rs199474364|rs199474367|rs12721672	byFrequency	TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	GCGGGGAGCCCCGCTT	GCGGGGAGCCCCGCTT	GCGGGGAGCCCCGCTT	-	GCGGGGAGCCCCGCTT	GCGGGGAGCCCCGCTT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr6:29910582_29910597delGCGGGGAGCCCCGCTT	ENST00000396634.1	+	4	463_478	c.122_137delGCGGGGAGCCCCGCTT	c.(121-138)cgcggggagccccgcttcfs	p.RGEPRF41fs	HLA-A_ENST00000376806.5_Frame_Shift_Del_p.RGEPRF41fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.RGEPRF41fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.RGEPRF41fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	41	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.E43*(1)|p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCCGTG	0.704									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																						2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	cervix(1)|ovary(1)	6																																								30018576	SO:0001589	frameshift_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.122_137delGCGGGGAGCCCCGCTT	6.37:g.29910582_29910597delGCGGGGAGCCCCGCTT	ENSP00000379873:p.Arg41fs		30018561	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	ENST00000396634.1	37	CCDS34373.1																																																																																				0.704	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		-	29910597	GCGGGGAGCCCCGCTT	-	29910582	7	5	149	1	0	1	0	1	0	0	0	0	7195	1087	38	0	128	0	HLA-A	6	29910582	Frame_Shift_Del	DEL	GCGGGGAGCCCCGCTT	TCGA-13-1509-01A-01W-0549-09		29910582	141204485	37	8243											
SRPK1	6732	genome.wustl.edu	37	6	35837268	35837268	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr6:35837268C>T	ENST00000373825.2	-	11	1687	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	SRPK1_ENST00000373822.1_Missense_Mutation_p.D361N|SRPK1_ENST00000423325.2_Missense_Mutation_p.D452N					SRSF protein kinase 1									p.D468N(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CCTTTGTTGTCCAGTGGTCCG	0.408																																					NSCLC(31;67 978 16289 24856 26454)											1	Substitution - Missense(1)	ovary(1)	6											334	314	321					6																	35837268		1991	4175	6166	35945246	SO:0001583	missense	6732			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1402G>A	6.37:g.35837268C>T	ENSP00000362931:p.Asp468Asn		35945246		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448747	0.43531	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.27890	1.64;1.64;1.64;1.69	5.44	5.44	0.79542	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.36303	0.0962	L	0.34521	1.04	0.51482	D	0.999926	B;D	0.63880	0.003;0.993	B;D	0.74674	0.004;0.984	T	0.03750	-1.1007	9	0.40728	T	0.16	-15.4689	17.8192	0.88645	0.0:1.0:0.0:0.0	.	452;468	B4DS61;Q96SB4	.;SRPK1_HUMAN	N	468;484;452;361	ENSP00000362931:D468N;ENSP00000354674:D484N;ENSP00000391069:D452N;ENSP00000362928:D361N	ENSP00000354674:D484N	D	-	1	0	SRPK1	35945246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.970000	0.63742	2.715000	0.92844	0.655000	0.94253	GAC		0.408	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		T	35837268	C	T	35837268	3	4	149	1	0	0	0	0	1	0	0	0	15161	855	30	2	589	2	SRPK1	6	35837268	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	5926686	35837268	135277799	38	8244											
SLC26A8	116369	genome.wustl.edu	37	6	35911700	35911700	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr6:35911700C>T	ENST00000490799.1	-	20	3243	c.2890G>A	c.(2890-2892)Ggc>Agc	p.G964S	SLC26A8_ENST00000394602.2_Missense_Mutation_p.G859S|SLC26A8_ENST00000355574.2_Missense_Mutation_p.G964S	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.G964S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTGCTGTTGCCCTCTGGTGAG	0.483																																																1	Substitution - Missense(1)	ovary(1)	6											160	147	151					6																	35911700		2203	4300	6503	36019678	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2890G>A	6.37:g.35911700C>T	ENSP00000417638:p.Gly964Ser		36019678		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416744	0.62511	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95001	-3.24;-3.58;-3.24	5.01	-0.822	0.10819	.	1.337080	0.05113	N	0.489291	T	0.78502	0.4293	N	0.24115	0.695	0.09310	N	1	B;B;B	0.28998	0.147;0.23;0.111	B;B;B	0.20955	0.014;0.032;0.032	T	0.72491	-0.4277	10	0.72032	D	0.01	.	3.7484	0.08556	0.176:0.3483:0.0:0.4757	.	964;859;546	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	S	964;859;964	ENSP00000417638:G964S;ENSP00000378100:G859S;ENSP00000347778:G964S	ENSP00000347778:G964S	G	-	1	0	SLC26A8	36019678	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.314000	0.08092	-0.063000	0.13065	0.561000	0.74099	GGC		0.483	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			T	35911700	C	T	35911700	3	4	149	1	0	0	0	0	1	0	0	0	14526	623	22	2	26	2	SLC26A8	6	35911700	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	74432	35911700	135203367	39	8245											
ZFAND3	60685	genome.wustl.edu	37	6	38084454	38084454	+	Silent	SNP	G	G	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr6:38084454G>T	ENST00000287218.4	+	5	915	c.468G>T	c.(466-468)cgG>cgT	p.R156R	ZFAND3_ENST00000373391.2_Silent_p.R134R	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	156							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R156R(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GTCGACGTCGGTGCTTCCAGT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	6											123	106	112					6																	38084454		2203	4300	6503	38192432	SO:0001819	synonymous_variant	60685			AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"Zinc fingers, AN1-type domain containing"	18019	protein-coding gene	gene with protein product		607455	"testis expressed sequence 27"	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.468G>T	6.37:g.38084454G>T			38192432	Q5SZZ0|Q5SZZ1	Silent	SNP	ENST00000287218.4	37	CCDS4836.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636381	0.29068	.	.	ENSG00000156639	ENST00000373389	.	.	.	5.28	0.0837	0.14434	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	-6.8626	6.0557	0.19811	0.3048:0.3514:0.3438:0.0	.	.	.	.	L	133	.	.	V	+	1	0	ZFAND3	38192432	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	0.277000	0.18734	0.292000	0.22492	0.650000	0.86243	GTG		0.532	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		T	38084454	G	T	38084454	2	4	149	1	0	0	0	0	0	0	0	1	17629	1248	44	3		3	ZFAND3	6	38084454	Silent	SNP	G	TCGA-13-1509-01A-01W-0549-09	2172754	38084454	133030613	40	8246											
UBR2	23304	genome.wustl.edu	37	6	42573531	42573531	+	Silent	SNP	T	T	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr6:42573531T>C	ENST00000372899.1	+	6	993	c.735T>C	c.(733-735)acT>acC	p.T245T	UBR2_ENST00000372901.1_Silent_p.T245T|UBR2_ENST00000372903.2_Silent_p.T245T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	245					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T245T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTATTTATACTCTTCAGAAAG	0.313																																																1	Substitution - coding silent(1)	ovary(1)	6											87	90	89					6																	42573531		2203	4300	6503	42681509	SO:0001819	synonymous_variant	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.735T>C	6.37:g.42573531T>C			42681509	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	CCDS4870.1																																																																																				0.313	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		C	42573531	T	C	42573531	2	2	149	1	0	0	0	0	0	0	0	1	16902	1538	54	4		4	UBR2	6	42573531	Silent	SNP	T	TCGA-13-1509-01A-01W-0549-09	4489077	42573531	128541536	41	8247											
CD2AP	23607	genome.wustl.edu	37	6	47573993	47573993	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr6:47573993C>T	ENST00000359314.5	+	14	1966	c.1510C>T	c.(1510-1512)Cgt>Tgt	p.R504C		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	504					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.R504C(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTTGCCGGGCCGTTTCAATGG	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											117	109	112					6																	47573993		2203	4300	6503	47681952	SO:0001583	missense	23607			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1510C>T	6.37:g.47573993C>T	ENSP00000352264:p.Arg504Cys		47681952	A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915324	0.92178	.	.	ENSG00000198087	ENST00000359314	T	0.27402	1.67	5.72	5.72	0.89469	.	2.303170	0.01581	N	0.021094	T	0.56262	0.1973	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.46176	-0.9210	10	0.56958	D	0.05	-4.1985	19.8711	0.96851	0.0:1.0:0.0:0.0	.	504	Q9Y5K6	CD2AP_HUMAN	C	504	ENSP00000352264:R504C	ENSP00000352264:R504C	R	+	1	0	CD2AP	47681952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.675000	0.68123	2.689000	0.91719	0.591000	0.81541	CGT		0.393	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			T	47573993	C	T	47573993	3	4	149	1	0	0	0	0	1	0	0	0	2994	652	23	1	1564	1	CD2AP	6	47573993	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	5000462	47573993	123541074	42	8248											
C6orf167	253714	genome.wustl.edu	37	6	97620943	97620943	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr6:97620943C>G	ENST00000275053.4	-	19	3100	c.2835G>C	c.(2833-2835)atG>atC	p.M945I	MMS22L_ENST00000369251.2_Missense_Mutation_p.M905I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	945					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.M945I(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACATACCCATCATTCCATAAG	0.363																																																1	Substitution - Missense(1)	ovary(1)	6											71	66	68					6																	97620943		2203	4300	6503	97727664	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2835G>C	6.37:g.97620943C>G	ENSP00000275053:p.Met945Ile		97727664	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	3.390	-0.124539	0.06795	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.26810	1.71;1.71	5.43	1.48	0.22813	.	0.330485	0.38111	N	0.001801	T	0.02012	0.0063	N	0.04880	-0.145	0.21220	N	0.999751	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40905	-0.9538	10	0.09590	T	0.72	-18.7675	1.065	0.01608	0.3133:0.3455:0.1166:0.2246	.	905;945	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	I	945;905	ENSP00000275053:M945I;ENSP00000358254:M905I	ENSP00000275053:M945I	M	-	3	0	MMS22L	97727664	0.890000	0.30428	0.995000	0.50966	0.997000	0.91878	-0.228000	0.09114	0.311000	0.23014	0.655000	0.94253	ATG		0.363	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		G	97620943	C	G	97620943	3	3	149	1	0	0	0	0	1	0	0	0	2342	826	29	3	924	3	C6orf167	6	97620943	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	50046950	97620943	73494124	43	8249											
LAMA2	3908	genome.wustl.edu	37	6	129712776	129712776	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr6:129712776G>A	ENST00000421865.2	+	36	5261	c.5212G>A	c.(5212-5214)Gaa>Aaa	p.E1738K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1738	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E1738K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACACAAAAGGAAATTGCTGA	0.343																																																1	Substitution - Missense(1)	ovary(1)	6											111	124	120					6																	129712776		2203	4300	6503	129754469	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5212G>A	6.37:g.129712776G>A	ENSP00000400365:p.Glu1738Lys		129754469	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300704	0.23650	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.23348	1.91	6.06	6.06	0.98353	Laminin I (1);	0.238690	0.44688	D	0.000428	T	0.08582	0.0213	L	0.29908	0.895	0.29589	N	0.848584	B;B	0.16166	0.016;0.007	B;B	0.16289	0.015;0.015	T	0.07443	-1.0772	10	0.35671	T	0.21	.	10.5668	0.45177	0.146:0.0:0.854:0.0	.	1738;1738	A6NF00;P24043	.;LAMA2_HUMAN	K	1738	ENSP00000400365:E1738K	ENSP00000346769:E1738K	E	+	1	0	LAMA2	129754469	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	1.770000	0.38532	2.880000	0.98712	0.650000	0.86243	GAA		0.343	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129712776	G	A	129712776	3	1	149	1	0	0	0	0	1	0	0	0	8606	1175	41	2	5354	2	LAMA2	6	129712776	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	32091833	129712776	41402291	44	8250											
PKD1L1	168507	genome.wustl.edu	37	7	47876559	47876559	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr7:47876559G>C	ENST00000289672.2	-	37	5953	c.5903C>G	c.(5902-5904)gCg>gGg	p.A1968G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1968					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A1968G(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTGAGACACGCGTAGACGCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	7											57	51	53					7																	47876559		2203	4300	6503	47843084	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5903C>G	7.37:g.47876559G>C	ENSP00000289672:p.Ala1968Gly		47843084	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503559	0.26949	.	.	ENSG00000158683	ENST00000289672	T	0.20738	2.05	5.1	1.85	0.25348	.	1.317330	0.05138	N	0.493754	T	0.19927	0.0479	L	0.43152	1.355	0.09310	N	1	D	0.56035	0.974	P	0.44990	0.466	T	0.17992	-1.0351	10	0.20046	T	0.44	-7.3893	5.2613	0.15576	0.5248:0.0:0.4752:0.0	.	1968	Q8TDX9	PK1L1_HUMAN	G	1968	ENSP00000289672:A1968G	ENSP00000289672:A1968G	A	-	2	0	PKD1L1	47843084	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	0.507000	0.22675	0.547000	0.28938	0.655000	0.94253	GCG		0.602	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		C	47876559	G	C	47876559	3	2	149	1	0	0	0	0	1	0	0	0	11964	1087	38	3	2730	3	PKD1L1	7	47876559	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09		47876559	111262104	45	8251											
ZSCAN21	7589	genome.wustl.edu	37	7	99661781	99661781	+	Silent	SNP	C	C	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr7:99661781C>G	ENST00000292450.4	+	4	1127	c.963C>G	c.(961-963)acC>acG	p.T321T	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.P287R|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.P287R|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	321					positive regulation of transcription, DNA-templated (GO:0045893)|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.T321T(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAAACCTCACCCTCCACTACA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	7											72	75	74					7																	99661781		2203	4300	6503	99499717	SO:0001819	synonymous_variant	7589			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.963C>G	7.37:g.99661781C>G			99499717	A4D2A6|D6W5T9|Q9H0B5	Silent	SNP	ENST00000292450.4	37	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	7.427	0.637857	0.14386	.	.	ENSG00000166529	ENST00000543588;ENST00000456748	T;T	0.02216	4.39;4.39	4.08	3.19	0.36642	.	.	.	.	.	T	0.01523	0.0049	.	.	.	0.09310	N	0.999999	B	0.14438	0.01	B	0.15052	0.012	T	0.43442	-0.9391	8	0.08179	T	0.78	.	12.2057	0.54350	0.0:0.8265:0.1735:0.0	.	287	G3V1M0	.	R	287	ENSP00000441212:P287R;ENSP00000390960:P287R	ENSP00000390960:P287R	P	+	2	0	ZSCAN21	99499717	0.000000	0.05858	1.000000	0.80357	0.908000	0.53690	-0.826000	0.04429	1.302000	0.44855	-0.165000	0.13383	CCC		0.488	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		G	99661781	C	G	99661781	2	3	149	1	0	0	0	0	0	0	0	1	18233	610	22	3		3	ZSCAN21	7	99661781	Silent	SNP	C	TCGA-13-1509-01A-01W-0549-09	51785222	99661781	59476882	46	8252											
PIK3CG	5294	genome.wustl.edu	37	7	106509141	106509141	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr7:106509141C>A	ENST00000359195.3	+	2	1445	c.1135C>A	c.(1135-1137)Ctc>Atc	p.L379I	PIK3CG_ENST00000496166.1_Missense_Mutation_p.L379I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.L379I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	379	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L379I(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAACACCGACCTCACAGTTTT	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											78	76	77					7																	106509141		2203	4300	6503	106296377	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1135C>A	7.37:g.106509141C>A	ENSP00000352121:p.Leu379Ile		106296377	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442209	0.25987	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.76709	-1.04;-1.04;-1.04	5.73	5.73	0.89815	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.190384	0.49916	D	0.000122	T	0.77308	0.4111	L	0.54323	1.7	0.58432	D	0.999998	B	0.24132	0.098	B	0.30943	0.122	T	0.71013	-0.4715	10	0.28530	T	0.3	-26.6489	19.9036	0.96999	0.0:1.0:0.0:0.0	.	379	P48736	PK3CG_HUMAN	I	379	ENSP00000392258:L379I;ENSP00000419260:L379I;ENSP00000352121:L379I	ENSP00000352121:L379I	L	+	1	0	PIK3CG	106296377	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.458000	0.45014	2.706000	0.92434	0.655000	0.94253	CTC		0.547	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106509141	C	A	106509141	3	1	149	1	0	0	0	0	1	0	0	0	11916	681	24	3	1137	3	PIK3CG	7	106509141	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	6847360	106509141	52629522	47	8253											
SLC37A3	84255	genome.wustl.edu	37	7	140082260	140082260	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr7:140082260C>T	ENST00000326232.9	-	2	270	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	SLC37A3_ENST00000447932.2_Missense_Mutation_p.V23M|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000340308.3_Missense_Mutation_p.V23M|SLC37A3_ENST00000429996.2_Missense_Mutation_p.V23M	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	23					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V23M(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					AGCAGGAACACTACAACATGA	0.443																																					Esophageal Squamous(133;211 1716 4665 11387 37873)											1	Substitution - Missense(1)	ovary(1)	7											214	185	194					7																	140082260		2203	4300	6503	139728729	SO:0001583	missense	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.67G>A	7.37:g.140082260C>T	ENSP00000321498:p.Val23Met		139728729	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797068	0.70567	.	.	ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232;ENST00000429996;ENST00000539816;ENST00000469193	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.296207	0.32901	N	0.005507	T	0.74749	0.3757	M	0.73598	2.24	0.34933	D	0.749574	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	D;D;D;D;D	0.76575	0.954;0.979;0.979;0.987;0.988	D	0.83420	0.0032	10	0.87932	D	0	-25.1497	14.0468	0.64710	0.0:1.0:0.0:0.0	.	23;23;23;23;23	B4DKF5;F5H743;Q8NCC5-2;Q8NCC5-3;Q8NCC5	.;.;.;.;SPX3_HUMAN	M	23	ENSP00000343358:V23M;ENSP00000397481:V23M;ENSP00000321498:V23M;ENSP00000412208:V23M;ENSP00000419024:V23M	ENSP00000321498:V23M	V	-	1	0	SLC37A3	139728729	0.997000	0.39634	0.716000	0.30569	0.844000	0.47949	4.728000	0.62000	2.373000	0.80994	0.585000	0.79938	GTG		0.443	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		T	140082260	C	T	140082260	3	4	149	1	0	0	0	0	1	0	0	0	14602	565	20	2	1622	2	SLC37A3	7	140082260	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	33573119	140082260	19056403	48	8254											
OR2F1	26211	genome.wustl.edu	37	7	143657510	143657510	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr7:143657510G>T	ENST00000392899.1	+	1	484	c.447G>T	c.(445-447)tgG>tgT	p.W149C	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	149					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W149C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCACATCCTGGGTCAGTGGCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											139	117	125					7																	143657510		2203	4300	6503	143288443	SO:0001583	missense	26211			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.447G>T	7.37:g.143657510G>T	ENSP00000376633:p.Trp149Cys		143288443	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431499	0.43122	.	.	ENSG00000213215	ENST00000392899	T	0.59638	0.25	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000128	T	0.72867	0.3514	M	0.66439	2.03	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	T	0.74423	-0.3670	10	0.87932	D	0	-12.7388	12.5119	0.56009	0.0:0.1672:0.8328:0.0	.	149	Q13607	OR2F1_HUMAN	C	149	ENSP00000376633:W149C	ENSP00000376633:W149C	W	+	3	0	OR2F1	143288443	0.892000	0.30473	0.943000	0.38184	0.593000	0.36681	2.014000	0.40951	2.871000	0.98454	0.655000	0.94253	TGG		0.527	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			T	143657510	G	T	143657510	3	4	149	1	0	0	0	0	1	0	0	0	10996	1241	43	3	449	3	OR2F1	7	143657510	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	3575250	143657510	15481153	49	8255											
CNTNAP2	26047	genome.wustl.edu	37	7	146829424	146829424	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr7:146829424A>C	ENST00000361727.3	+	8	1687	c.1171A>C	c.(1171-1173)Aac>Cac	p.N391H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	391					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.N391H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGACGGCTTAACCAGGACCT	0.468										HNSCC(39;0.1)																																						1	Substitution - Missense(1)	ovary(1)	7											130	121	124					7																	146829424		2203	4300	6503	146460357	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1171A>C	7.37:g.146829424A>C	ENSP00000354778:p.Asn391His		146460357	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256423	0.39896	.	.	ENSG00000174469	ENST00000361727	T	0.79247	-1.25	5.7	-6.44	0.01920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.941563	0.08809	N	0.890628	T	0.55417	0.1919	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.38845	-0.9642	10	0.48119	T	0.1	.	2.5936	0.04848	0.322:0.2207:0.3497:0.1076	.	391	Q9UHC6	CNTP2_HUMAN	H	391	ENSP00000354778:N391H	ENSP00000354778:N391H	N	+	1	0	CNTNAP2	146460357	0.000000	0.05858	0.001000	0.08648	0.991000	0.79684	-0.026000	0.12392	-1.227000	0.02571	0.482000	0.46254	AAC		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			C	146829424	A	C	146829424	3	2	149	1	0	0	0	0	1	0	0	0	3647	362	13	5	1201	5	CNTNAP2	7	146829424	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	3171914	146829424	12309239	50	8256											
ADAM2	2515	genome.wustl.edu	37	8	39602414	39602414	+	Splice_Site	SNP	T	T	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr8:39602414T>A	ENST00000265708.4	-	20	2278		c.e20-2		ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCAGGTTGCCTGCatattaaa	0.299																																																2	Unknown(2)	ovary(1)|lung(1)	8											65	74	71					8																	39602414		2203	4300	6503	39721571	SO:0001630	splice_region_variant	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.2175-2A>T	8.37:g.39602414T>A			39721571	P78326|Q9UQQ8	Splice_Site	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	6.517	0.463679	0.12402	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6212	0.33861	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM2	39721571	0.973000	0.33851	0.909000	0.35828	0.012000	0.07955	2.517000	0.45529	1.807000	0.52817	0.477000	0.44152	.		0.299	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Intron	A	39602414	T	A	39602414	5	1	149	1	0	0	0	0	0	0	1	0	241	1594	55	5	38	5	ADAM2	8	39602414	Splice_Site	SNP	T	TCGA-13-1509-01A-01W-0549-09		39602414	106761608	51	8257											
OPRK1	4986	genome.wustl.edu	37	8	54141967	54141967	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr8:54141967A>G	ENST00000265572.3	-	4	1330	c.1033T>C	c.(1033-1035)Tgc>Cgc	p.C345R	OPRK1_ENST00000520287.1_Missense_Mutation_p.C345R|OPRK1_ENST00000524278.1_Missense_Mutation_p.C256R|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	345					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.C345R(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGTGGAAAGCAGAAGTCCCGG	0.478																																																1	Substitution - Missense(1)	ovary(1)	8											86	80	82					8																	54141967		2203	4300	6503	54304520	SO:0001583	missense	4986				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.1033T>C	8.37:g.54141967A>G	ENSP00000265572:p.Cys345Arg		54304520	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172310	0.78452	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.37235	1.21;1.21;1.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72972	-0.4129	10	0.87932	D	0	.	16.1435	0.81544	1.0:0.0:0.0:0.0	.	345	P41145	OPRK_HUMAN	R	345;256;345;331	ENSP00000265572:C345R;ENSP00000430923:C256R;ENSP00000429706:C345R	ENSP00000265572:C345R	C	-	1	0	OPRK1	54304520	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.268000	0.95675	2.212000	0.71576	0.528000	0.53228	TGC		0.478	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			G	54141967	A	G	54141967	3	3	149	1	0	0	0	0	1	0	0	0	10885	188	7	4	113	4	OPRK1	8	54141967	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	14539553	54141967	92222055	52	8258											
DMRT2	10655	genome.wustl.edu	37	9	1056470	1056470	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr9:1056470C>G	ENST00000358146.2	+	3	883	c.883C>G	c.(883-885)Cca>Gca	p.P295A	DMRT2_ENST00000302441.6_Missense_Mutation_p.P295A|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.P295A			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	295					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P295A(1)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGTGGAACCACCAAGCAAGGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	9											82	79	80					9																	1056470		2203	4300	6503	1046470	SO:0001583	missense	10655			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.883C>G	9.37:g.1056470C>G	ENSP00000350865:p.Pro295Ala		1046470	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	0.316	-0.965052	0.02249	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.22336	1.96;1.96;1.96	5.53	2.61	0.31194	.	0.229944	0.45361	N	0.000371	T	0.11750	0.0286	L	0.34521	1.04	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.002;0.007	T	0.40270	-0.9572	10	0.02654	T	1	-0.6919	7.7655	0.28978	0.0:0.5891:0.2675:0.1434	.	295;139	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	A	295	ENSP00000371686:P295A;ENSP00000305785:P295A;ENSP00000350865:P295A	ENSP00000305785:P295A	P	+	1	0	DMRT2	1046470	0.103000	0.21917	0.001000	0.08648	0.004000	0.04260	0.972000	0.29409	0.269000	0.21961	-0.237000	0.12165	CCA		0.478	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		G	1056470	C	G	1056470	3	3	149	1	0	0	0	0	1	0	0	0	4586	507	18	3	950	3	DMRT2	9	1056470	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09		1056470	140156961	53	8259											
IFNB1	3456	genome.wustl.edu	37	9	21077536	21077536	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr9:21077536A>T	ENST00000380232.2	-	1	407	c.333T>A	c.(331-333)aaT>aaA	p.N111K		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	111					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.N111K(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		GATGATAGACATTAGCCAGGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	9											174	173	174					9																	21077536		2203	4300	6503	21067536	SO:0001583	missense	3456				CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"Interferons"	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.333T>A	9.37:g.21077536A>T	ENSP00000369581:p.Asn111Lys		21067536	Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	A	1.964	-0.438104	0.04636	.	.	ENSG00000171855	ENST00000380232	T	0.03181	4.02	5.42	-2.85	0.05734	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.592902	0.17868	N	0.159274	T	0.01156	0.0038	N	0.02315	-0.6	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.41197	-0.9522	10	0.34782	T	0.22	-0.7601	1.0804	0.01641	0.1315:0.2498:0.2375:0.3811	.	111	P01574	IFNB_HUMAN	K	111	ENSP00000369581:N111K	ENSP00000369581:N111K	N	-	3	2	IFNB1	21067536	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.584000	0.05800	-0.676000	0.05238	-1.313000	0.01306	AAT		0.418	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		T	21077536	A	T	21077536	3	4	149	1	0	0	0	0	1	0	0	0	7546	214	8	5	234	5	IFNB1	9	21077536	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09	20021066	21077536	120135895	54	8260											
AGTPBP1	23287	genome.wustl.edu	37	9	88200414	88200414	+	Silent	SNP	T	T	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr9:88200414T>A	ENST00000357081.3	-	23	3273	c.3129A>T	c.(3127-3129)gcA>gcT	p.A1043A	AGTPBP1_ENST00000376109.3_Silent_p.A1055A|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.A1003A			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1043					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.A1003A(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CACATGAAGTTGCATTATCAT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	9											194	169	177					9																	88200414		2203	4300	6503	87390234	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.3129A>T	9.37:g.88200414T>A			87390234	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37																																																																																					0.348	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		A	88200414	T	A	88200414	2	1	149	1	0	0	0	0	0	0	0	1	400	1799	63	5		5	AGTPBP1	9	88200414	Silent	SNP	T	TCGA-13-1509-01A-01W-0549-09	67122878	88200414	53013017	55	8261											
MAPKAP1	79109	genome.wustl.edu	37	9	128230361	128230361	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr9:128230361T>C	ENST00000373498.1	-	9	1303	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	MAPKAP1_ENST00000265960.3_Missense_Mutation_p.D412G|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.D376G|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.D220G|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.D125G|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.D365G|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.D220G			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	412					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.D376G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CGTAACAGGGTCTATCTCTAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	9											171	160	163					9																	128230361		2203	4300	6503	127270182	SO:0001583	missense	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1235A>G	9.37:g.128230361T>C	ENSP00000362597:p.Asp412Gly		127270182	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.787625	0.90367	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497;ENST00000420643	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.998	D;D;D;D	0.91635	0.953;0.999;0.998;0.937	T	0.76580	-0.2907	9	0.20046	T	0.44	-8.1008	16.2792	0.82664	0.0:0.0:0.0:1.0	.	125;365;376;412	B7Z5E5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	G	365;376;220;412;412;220;125;184	.	ENSP00000265960:D412G	D	-	2	0	MAPKAP1	127270182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.243000	0.73865	0.533000	0.62120	GAC		0.433	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			C	128230361	T	C	128230361	3	2	149	1	0	0	0	0	1	0	0	0	9288	1667	58	4	345	4	MAPKAP1	9	128230361	Missense_Mutation	SNP	T	TCGA-13-1509-01A-01W-0549-09	40029947	128230361	12983070	56	8262											
CUBN	8029	genome.wustl.edu	37	10	17085895	17085895	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr10:17085895T>A	ENST00000377833.4	-	26	3825	c.3760A>T	c.(3760-3762)Agc>Tgc	p.S1254C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1254	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S1254C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAAACATGCTGTCTCCACTA	0.448																																																1	Substitution - Missense(1)	ovary(1)	10											165	141	149					10																	17085895		2203	4300	6503	17125901	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3760A>T	10.37:g.17085895T>A	ENSP00000367064:p.Ser1254Cys		17125901	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783873	0.70222	.	.	ENSG00000107611	ENST00000377833	T	0.19532	2.14	5.5	4.33	0.51752	CUB (5);	0.415908	0.20343	N	0.094186	T	0.48132	0.1483	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.49753	-0.8906	10	0.59425	D	0.04	.	11.3067	0.49340	0.0:0.0731:0.0:0.9269	.	1254	O60494	CUBN_HUMAN	C	1254	ENSP00000367064:S1254C	ENSP00000367064:S1254C	S	-	1	0	CUBN	17125901	0.838000	0.29461	0.945000	0.38365	0.914000	0.54420	2.498000	0.45363	0.890000	0.36211	0.397000	0.26171	AGC		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	17085895	T	A	17085895	3	1	149	1	0	0	0	0	1	0	0	0	4051	1580	55	5	7279	5	CUBN	10	17085895	Missense_Mutation	SNP	T	TCGA-13-1509-01A-01W-0549-09		17085895	118448852	57	8263											
ARHGAP21	57584	genome.wustl.edu	37	10	24886885	24886885	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr10:24886885G>C	ENST00000396432.2	-	15	3672	c.3186C>G	c.(3184-3186)aaC>aaG	p.N1062K	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.N849K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1061	Interaction with ARF1 and ARF6.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.N1061K(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCATCAGATTGTTGTATTCTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	10											185	177	180					10																	24886885		2203	4300	6503	24926891	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3186C>G	10.37:g.24886885G>C	ENSP00000379709:p.Asn1062Lys		24926891	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922936	0.33908	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.43294	2.89;3.02;0.97;0.95	5.87	2.73	0.32206	.	0.139992	0.64402	D	0.000002	T	0.26593	0.0650	L	0.38175	1.15	0.43953	D	0.996624	B;B	0.26744	0.046;0.158	B;B	0.16722	0.01;0.016	T	0.04855	-1.0922	10	0.17369	T	0.5	.	7.8419	0.29403	0.431:0.0:0.569:0.0	.	1052;1061	F8W9U9;Q5T5U3	.;RHG21_HUMAN	K	1062;849;1052;1062;897	ENSP00000379709:N1062K;ENSP00000365604:N849K;ENSP00000365592:N1052K;ENSP00000405018:N1062K	ENSP00000365604:N849K	N	-	3	2	ARHGAP21	24926891	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.580000	0.36547	0.813000	0.34350	0.655000	0.94253	AAC		0.358	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		C	24886885	G	C	24886885	3	2	149	1	0	0	0	0	1	0	0	0	871	1368	48	3	2738	3	ARHGAP21	10	24886885	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	7800990	24886885	110647862	58	8264											
GPR158	57512	genome.wustl.edu	37	10	25887606	25887606	+	Silent	SNP	T	T	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr10:25887606T>C	ENST00000376351.3	+	11	3410	c.3051T>C	c.(3049-3051)ggT>ggC	p.G1017G	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1017					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G1017G(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGACCCCTGGTCCTGTGCCTT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	10											58	58	58					10																	25887606		2203	4300	6503	25927612	SO:0001819	synonymous_variant	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3051T>C	10.37:g.25887606T>C			25927612	Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																				0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		C	25887606	T	C	25887606	2	2	149	1	0	0	0	0	0	0	0	1	6663	1654	58	4		4	GPR158	10	25887606	Silent	SNP	T	TCGA-13-1509-01A-01W-0549-09	1000721	25887606	109647141	59	8265											
COL13A1	1305	genome.wustl.edu	37	10	71678073	71678073	+	Splice_Site	SNP	G	G	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr10:71678073G>A	ENST00000398978.3	+	19	1521	c.1029G>A	c.(1027-1029)aaG>aaA	p.K343K	COL13A1_ENST00000398971.3_Splice_Site_p.K343K|COL13A1_ENST00000517713.1_Splice_Site_p.K321K|COL13A1_ENST00000398972.3_Splice_Site_p.K343K|COL13A1_ENST00000398974.3_Splice_Site_p.K331K|COL13A1_ENST00000398969.3_Splice_Site_p.K286K|COL13A1_ENST00000398964.3_Splice_Site_p.K314K|COL13A1_ENST00000398966.3_Splice_Site_p.K321K|COL13A1_ENST00000520133.1_Splice_Site_p.K292K|COL13A1_ENST00000520267.1_Splice_Site_p.K286K|COL13A1_ENST00000357811.3_Splice_Site_p.K321K|COL13A1_ENST00000398968.3_Splice_Site_p.K324K|COL13A1_ENST00000356340.3_Splice_Site_p.K343K|COL13A1_ENST00000354547.3_Splice_Site_p.K321K|COL13A1_ENST00000522165.1_Splice_Site_p.K324K|COL13A1_ENST00000398973.3_Splice_Site_p.K343K	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.K326K(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CTGGGATGAAGGTCAGTGGAC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	10											51	55	54					10																	71678073		1900	4129	6029	71348079	SO:0001630	splice_region_variant	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1029+1G>A	10.37:g.71678073G>A			71348079		Silent	SNP	ENST00000398978.3	37	CCDS44419.1																																																																																				0.597	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203	Silent	A	71678073	G	A	71678073	5	1	149	1	0	0	0	0	0	0	1	0	3670	1014	35	2	1103	2	COL13A1	10	71678073	Splice_Site	SNP	G	TCGA-13-1509-01A-01W-0549-09	45790467	71678073	63856674	60	8266											
OR51A4	401666	genome.wustl.edu	37	11	4967789	4967789	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr11:4967789C>T	ENST00000380373.2	-	1	567	c.542G>A	c.(541-543)tGt>tAt	p.C181Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C181Y(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGTGGAGACAGTAGGAATG	0.398																																																1	Substitution - Missense(1)	ovary(1)	11											103	99	101					11																	4967789		2195	4284	6479	4924365	SO:0001583	missense	401666			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.542G>A	11.37:g.4967789C>T	ENSP00000369731:p.Cys181Tyr		4924365		Missense_Mutation	SNP	ENST00000380373.2	37	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448673	0.26074	.	.	ENSG00000205497	ENST00000380373	T	0.61980	0.06	3.44	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.82756	0.5106	H	0.94183	3.505	0.30815	N	0.738452	D	0.89917	1.0	D	0.97110	1.0	T	0.81223	-0.1030	9	0.72032	D	0.01	.	10.5611	0.45146	0.0:0.8996:0.0:0.1004	.	181	Q8NGJ6	O51A4_HUMAN	Y	181	ENSP00000369731:C181Y	ENSP00000369731:C181Y	C	-	2	0	OR51A4	4924365	1.000000	0.71417	0.054000	0.19295	0.125000	0.20455	5.319000	0.65835	0.760000	0.33108	-0.706000	0.03657	TGT		0.398	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		T	4967789	C	T	4967789	3	4	149	1	0	0	0	0	1	0	0	0	11087	478	17	2	401	2	OR51A4	11	4967789	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09		4967789	130038727	61	8267											
FAT3	120114	genome.wustl.edu	37	11	92532882	92532882	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr11:92532882T>G	ENST00000298047.6	+	9	6720	c.6703T>G	c.(6703-6705)Ttt>Gtt	p.F2235V	FAT3_ENST00000525166.1_Missense_Mutation_p.F2085V|FAT3_ENST00000409404.2_Missense_Mutation_p.F2235V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2235	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F2235V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAACATTGACTTTGACACTGG	0.448										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											56	52	53					11																	92532882		1889	4127	6016	92172530	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6703T>G	11.37:g.92532882T>G	ENSP00000298047:p.Phe2235Val		92172530	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	18.45	3.626866	0.66901	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.50277	0.75;0.75;0.75	5.94	5.94	0.96194	.	.	.	.	.	T	0.64583	0.2611	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65825	-0.6074	9	0.62326	D	0.03	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	2235	Q8TDW7-3	.	V	2235;2235;2085	ENSP00000298047:F2235V;ENSP00000387040:F2235V;ENSP00000432586:F2085V	ENSP00000298047:F2235V	F	+	1	0	FAT3	92172530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.975000	0.88055	2.275000	0.75901	0.528000	0.53228	TTT		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92532882	T	G	92532882	3	3	149	1	0	0	0	0	1	0	0	0	5691	1609	56	5	6737	5	FAT3	11	92532882	Missense_Mutation	SNP	T	TCGA-13-1509-01A-01W-0549-09	87565093	92532882	42473634	62	8268											
CACNA1C	775	genome.wustl.edu	37	12	2788812	2788812	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr12:2788812C>A	ENST00000347598.4	+	44	5438	c.5438C>A	c.(5437-5439)gCc>gAc	p.A1813D	CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1773D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1765D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1765D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1784D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1806D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1765D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1765D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1771D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1765D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1784D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1782D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1793D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1765D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1784D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1773D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1765D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1790D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1765D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1785D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1765D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1765D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1813					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1843D(1)|p.A1300D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTCCAACGCCAACATCAAC	0.682																																																2	Substitution - Missense(2)	ovary(2)	12											86	100	95					12																	2788812		2167	4254	6421	2659073	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5438C>A	12.37:g.2788812C>A	ENSP00000266376:p.Ala1813Asp		2659073	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625536	0.66901	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97186	-4.11;-4.11;-4.11;-4.09;-4.11;-4.11;-4.0;-4.04;-4.11;-4.02;-4.04;-4.11;-4.14;-4.04;-4.01;-4.15;-4.11;-4.11;-4.27;-4.11;-4.28;-4.15	4.39	4.39	0.52855	.	1.849990	0.02594	N	0.100245	D	0.98645	0.9546	M	0.76328	2.33	0.80722	D	1	D;D;D;P;D;D;D;D;P;P;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D	0.89917	0.992;1.0;0.999;0.655;1.0;1.0;0.999;1.0;0.877;0.935;1.0;0.999;1.0;0.999;0.999;0.999;1.0;0.12;1.0;0.982;0.999;1.0;1.0;1.0;0.999	P;D;D;B;D;D;D;D;P;P;D;D;D;D;D;D;D;B;D;P;D;D;D;D;D	0.91635	0.791;0.998;0.992;0.231;0.998;0.999;0.991;0.999;0.467;0.604;0.999;0.996;0.996;0.999;0.996;0.998;0.996;0.064;0.999;0.881;0.996;0.999;0.999;0.999;0.992	D	0.93150	0.6549	10	0.46703	T	0.11	.	17.145	0.86764	0.0:1.0:0.0:0.0	.	456;1806;1762;1813;1765;1784;1765;1782;1793;1765;1785;1765;1725;1813;1765;1765;1765;1773;1771;1773;1754;1784;1784;1765;1765	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	1790;1765;1765;1793;1765;1784;1784;1773;1765;1813;1785;1765;1806;1782;1765;1771;1784;1765;1765;1765;1765;1773;1595	ENSP00000336982:A1790D;ENSP00000382563:A1765D;ENSP00000382552:A1765D;ENSP00000382547:A1793D;ENSP00000382506:A1765D;ENSP00000382530:A1784D;ENSP00000382546:A1784D;ENSP00000382500:A1773D;ENSP00000382549:A1765D;ENSP00000266376:A1813D;ENSP00000382515:A1785D;ENSP00000382510:A1765D;ENSP00000341092:A1806D;ENSP00000382537:A1782D;ENSP00000329877:A1765D;ENSP00000382557:A1771D;ENSP00000385724:A1784D;ENSP00000382512:A1765D;ENSP00000382542:A1765D;ENSP00000382526:A1765D;ENSP00000385896:A1765D;ENSP00000382504:A1773D	ENSP00000323129:A1595D	A	+	2	0	CACNA1C	2659073	1.000000	0.71417	0.998000	0.56505	0.286000	0.27126	6.890000	0.75633	2.276000	0.75962	0.305000	0.20034	GCC		0.682	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2788812	C	A	2788812	3	1	149	1	0	0	0	0	1	0	0	0	2540	739	26	3	5843	3	CACNA1C	12	2788812	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09		2788812	131063083	63	8269											
CMAS	55907	genome.wustl.edu	37	12	22214388	22214388	+	Splice_Site	SNP	T	T	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr12:22214388T>G	ENST00000229329.2	+	6	1090		c.e6+2			NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase						lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.?(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GGTATTGAGGTATGTGCTCCC	0.284																																																1	Unknown(1)	ovary(1)	12											47	48	48					12																	22214388		2203	4299	6502	22105655	SO:0001630	splice_region_variant	55907			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"CMP-Neu5Ac synthetase"	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.960+2T>G	12.37:g.22214388T>G			22105655	Q96AX5|Q9NQZ0	Splice_Site	SNP	ENST00000229329.2	37	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868056	0.72065	.	.	ENSG00000111726	ENST00000229329	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3919	0.74751	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CMAS	22105655	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.412000	0.73303	2.223000	0.72356	0.482000	0.46254	.		0.284	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	Intron	G	22214388	T	G	22214388	5	3	149	1	0	0	0	0	0	0	1	0	3575	1652	57	5	984	5	CMAS	12	22214388	Splice_Site	SNP	T	TCGA-13-1509-01A-01W-0549-09	19425576	22214388	111637507	64	8270											
DDX23	9416	genome.wustl.edu	37	12	49227241	49227241	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr12:49227241C>A	ENST00000308025.3	-	13	1701	c.1622G>T	c.(1621-1623)aGc>aTc	p.S541I		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	541	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.S541I(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GGTACAGCGGCTCAGCACCAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											111	107	108					12																	49227241		2203	4300	6503	47513508	SO:0001583	missense	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1622G>T	12.37:g.49227241C>A	ENSP00000310723:p.Ser541Ile		47513508	B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331564	0.95733	.	.	ENSG00000174243	ENST00000308025	T	0.17528	2.27	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.043903	0.85682	D	0.000000	T	0.41026	0.1141	M	0.80847	2.515	0.80722	D	1	P	0.52463	0.953	P	0.54431	0.752	T	0.18967	-1.0320	10	0.72032	D	0.01	-20.7873	19.4154	0.94694	0.0:1.0:0.0:0.0	.	541	Q9BUQ8	DDX23_HUMAN	I	541	ENSP00000310723:S541I	ENSP00000310723:S541I	S	-	2	0	DDX23	47513508	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.015000	0.70791	2.884000	0.98904	0.655000	0.94253	AGC		0.507	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		A	49227241	C	A	49227241	3	1	149	1	0	0	0	0	1	0	0	0	4350	797	28	3	860	3	DDX23	12	49227241	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	27012853	49227241	84624654	65	8271											
OS9	10956	genome.wustl.edu	37	12	58111997	58111998	+	Nonsense_Mutation	DNP	GA	GA	TT			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	GA	GA	GA	TT	GA	GA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr12:58111997_58111998GA>TT	ENST00000315970.7	+	11	1244_1245	c.1203_1204GA>TT	c.(1201-1206)gaGAag>gaTTag	p.401_402EK>D*	OS9_ENST00000435406.2_Nonsense_Mutation_p.349_350EK>D*|OS9_ENST00000413095.2_Nonsense_Mutation_p.195_196EK>D*|OS9_ENST00000551035.1_Nonsense_Mutation_p.369_370EK>D*|OS9_ENST00000439210.2_Nonsense_Mutation_p.342_343EK>D*|OS9_ENST00000389142.5_Nonsense_Mutation_p.401_402EK>D*|OS9_ENST00000257966.8_Nonsense_Mutation_p.402_403EK>D*|OS9_ENST00000552285.1_Nonsense_Mutation_p.401_402EK>D*|OS9_ENST00000389146.6_Nonsense_Mutation_p.401_402EK>D*|RP11-571M6.7_ENST00000549477.1_RNA	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	401					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGAACCAGAGAAGGAAAGGGG	0.535																																																0			12																																								56398265	SO:0001587	stop_gained	10956			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	Exception_encountered	12.37:g.58111997_58111998delinsTT	ENSP00000318165:p.E401_K402delinsD*		56398264	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Nonsense_Mutation	DNP	ENST00000315970.7	37	CCDS31843.1																																																																																				0.535	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		TT	58111998	GA	TT	58111997	4	4	149	1	0	0	0	0	0	1	0	0	11272	933	33	3	1245	3	OS9	12	58111997	Nonsense_Mutation	DNP	GA	TCGA-13-1509-01A-01W-0549-09	8884756	58111997	75739898	66	8272											
MDM1	56890	genome.wustl.edu	37	12	68720731	68720731	+	Silent	SNP	A	A	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr12:68720731A>C	ENST00000303145.7	-	3	290	c.204T>G	c.(202-204)tcT>tcG	p.S68S	MDM1_ENST00000540418.1_Intron|MDM1_ENST00000430606.2_Silent_p.S68S|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Silent_p.S68S|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	68					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.S68S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCCACTCCAGAGATTTTGAAA	0.423																																																1	Substitution - coding silent(1)	ovary(1)	12											99	103	102					12																	68720731		2203	4300	6503	67006998	SO:0001819	synonymous_variant	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.204T>G	12.37:g.68720731A>C			67006998	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	37	CCDS8983.1																																																																																				0.423	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		C	68720731	A	C	68720731	2	2	149	1	0	0	0	0	0	0	0	1	9412	291	11	5		5	MDM1	12	68720731	Silent	SNP	A	TCGA-13-1509-01A-01W-0549-09	10608734	68720731	65131164	67	8273											
RB1	5925	genome.wustl.edu	37	13	49039405	49039421	+	Frame_Shift_Del	DEL	TACGGATTCCTGGAGGG	TACGGATTCCTGGAGGG	-	rs187912365|rs374523971	byFrequency	TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	TACGGATTCCTGGAGGG	TACGGATTCCTGGAGGG	TACGGATTCCTGGAGGG	-	TACGGATTCCTGGAGGG	TACGGATTCCTGGAGGG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr13:49039405_49039421delTACGGATTCCTGGAGGG	ENST00000267163.4	+	23	2528_2544	c.2390_2406delTACGGATTCCTGGAGGG	c.(2389-2406)ttacggattcctggagggfs	p.LRIPGG797fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	797	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.L797fs*1(1)|p.R798W(1)|p.R798fs*17(1)|p.G801*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGTTCACCCTTACGGATTCCTGGAGGGAACATCTATA	0.396		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	30	Whole gene deletion(15)|Unknown(11)|Insertion - Frameshift(1)|Substitution - Nonsense(1)|Deletion - Frameshift(1)|Substitution - Missense(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|eye(2)|lung(2)|ovary(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)	13	GRCh37	CI012716|CM023820	RB1	I|M																																				47937422	SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2390_2406delTACGGATTCCTGGAGGG	13.37:g.49039405_49039421delTACGGATTCCTGGAGGG	ENSP00000267163:p.Leu797fs		47937406	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.396	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	49039421	TACGGATTCCTGGAGGG	-	49039405	7	5	149	1	0	1	0	1	0	0	0	0	13101	1764	61	0	2480	0	RB1	13	49039405	Frame_Shift_Del	DEL	TACGGATTCCTGGAGGG	TCGA-13-1509-01A-01W-0549-09		49039405	66130473	68	8274											
G2E3	55632	genome.wustl.edu	37	14	31058619	31058623	+	Frame_Shift_Del	DEL	AAAGA	AAAGA	-			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	AAAGA	AAAGA	AAAGA	-	AAAGA	AAAGA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr14:31058619_31058623delAAAGA	ENST00000206595.6	+	4	320_324	c.166_170delAAAGA	c.(166-171)aaagaafs	p.KE56fs	G2E3_ENST00000438909.2_Frame_Shift_Del_p.KE10fs|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Frame_Shift_Del_p.KE86fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	56					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K56fs*18(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAGAGAGGCAAAGAAGAAGAAGGA	0.293																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								30128374	SO:0001589	frameshift_variant	55632			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.166_170delAAAGA	14.37:g.31058619_31058623delAAAGA	ENSP00000206595:p.Lys56fs		30128370	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Del	DEL	ENST00000206595.6	37	CCDS9638.1																																																																																				0.293	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		-	31058623	AAAGA	-	31058619	7	5	149	1	0	1	0	1	0	0	0	0	6140	131	5	0	176	0	G2E3	14	31058619	Frame_Shift_Del	DEL	AAAGA	TCGA-13-1509-01A-01W-0549-09		31058619	76290921	69	8275											
EML5	161436	genome.wustl.edu	37	14	89205266	89205266	+	Silent	SNP	T	T	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr14:89205266T>C	ENST00000380664.5	-	6	803	c.804A>G	c.(802-804)ccA>ccG	p.P268P	EML5_ENST00000554922.1_Silent_p.P268P|EML5_ENST00000352093.5_Silent_p.P268P			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	268						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.P268P(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCACAGTAATTGGTTTAAAAG	0.368																																																1	Substitution - coding silent(1)	ovary(1)	14											72	65	67					14																	89205266		1862	4106	5968	88275019	SO:0001819	synonymous_variant	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.804A>G	14.37:g.89205266T>C			88275019	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			C	89205266	T	C	89205266	2	2	149	1	0	0	0	0	0	0	0	1	5100	1799	63	4		4	EML5	14	89205266	Silent	SNP	T	TCGA-13-1509-01A-01W-0549-09	58146647	89205266	18144274	70	8276											
SLC28A2	9153	genome.wustl.edu	37	15	45559871	45559871	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr15:45559871C>T	ENST00000347644.3	+	12	1141	c.1076C>T	c.(1075-1077)gCa>gTa	p.A359V	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	359					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.A359V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CAGGTTGATGCATCATCCCTG	0.527																																					NSCLC(92;493 1501 26361 28917 47116)											1	Substitution - Missense(1)	ovary(1)	15											148	134	139					15																	45559871		2198	4298	6496	43347163	SO:0001583	missense	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1076C>T	15.37:g.45559871C>T	ENSP00000315006:p.Ala359Val		43347163	A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827154	0.71143	.	.	ENSG00000137860	ENST00000347644	T	0.02140	4.43	5.94	5.94	0.96194	.	0.171581	0.56097	D	0.000034	T	0.13756	0.0333	M	0.79805	2.47	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	T	0.00007	-1.2498	10	0.72032	D	0.01	-0.9678	17.853	0.88754	0.0:1.0:0.0:0.0	.	359	O43868	S28A2_HUMAN	V	359	ENSP00000315006:A359V	ENSP00000315006:A359V	A	+	2	0	SLC28A2	43347163	0.993000	0.37304	0.031000	0.17742	0.165000	0.22458	5.400000	0.66320	2.816000	0.96949	0.561000	0.74099	GCA		0.527	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		T	45559871	C	T	45559871	3	4	149	1	0	0	0	0	1	0	0	0	14535	710	25	2	1118	2	SLC28A2	15	45559871	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09		45559871	56971521	71	8277											
WDR24	84219	genome.wustl.edu	37	16	739275	739275	+	Silent	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr16:739275C>T	ENST00000248142.6	-	3	551	c.552G>A	c.(550-552)acG>acA	p.T184T	LA16c-313D11.12_ENST00000566927.1_RNA|WDR24_ENST00000293883.4_Silent_p.T122T			Q96S15	WDR24_HUMAN	WD repeat domain 24	184								p.T122T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTTTGTTTACCGTGCGCTTGT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	16											128	100	109					16																	739275		2200	4299	6499	679276	SO:0001819	synonymous_variant	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.552G>A	16.37:g.739275C>T			679276	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	37																																																																																					0.597	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		T	739275	C	T	739275	2	4	149	1	0	0	0	0	0	0	0	1	17281	639	23	1		1	WDR24	16	739275	Silent	SNP	C	TCGA-13-1509-01A-01W-0549-09		739275	89615478	72	8278											
TP53	7157	genome.wustl.edu	37	17	7576858	7576858	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	-	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr17:7576858delG	ENST00000269305.4	-	9	1177	c.988delC	c.(988-990)cttfs	p.L330fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.L330fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L330fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.L330fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L330fs	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	330	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		L -> H (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L330fs*15(1)|p.?(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)	AGTACCTGAAGGGTGAAATAT	0.453		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"	10	Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|ovary(1)|stomach(1)	17											119	112	114					17																	7576858		2203	4300	6503	7517583	SO:0001589	frameshift_variant	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.988delC	17.37:g.7576858delG	ENSP00000269305:p.Leu330fs		7517583	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.453	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7576858	G	-	7576858	7	5	149	1	0	1	0	1	0	0	0	0	16381	1000	35	0	294	0	TP53	17	7576858	Frame_Shift_Del	DEL	G	TCGA-13-1509-01A-01W-0549-09		7576858	73618352	73	8279											
SLC4A1	6521	genome.wustl.edu	37	17	42335417	42335418	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	CC	CC	CC	AG	CC	CC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr17:42335417_42335418CC>AG	ENST00000262418.6	-	11	1373_1374	c.1218_1219GG>CT	c.(1216-1221)ctGGct>ctCTct	p.A407S	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	407	Membrane (anion exchange).		Missing (in EL4; increased rigidity of the erythrocyte membrane leading to increased resistance to shear stress and increased resistance to P.falciparum). {ECO:0000269|PubMed:1538405, ECO:0000269|PubMed:1722314}.		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ATGACGGCAGCCAGGACCTGGG	0.594																																																0			17																																								39690944	SO:0001583	missense	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1218_1219delinsAG	17.37:g.42335417_42335418delinsAG	ENSP00000262418:p.Ala407Ser		39690943	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	DNP	ENST00000262418.6	37	CCDS11481.1																																																																																				0.594	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		AG	42335418	CC	AG	42335417	3	1	149	1	0	0	0	0	1	0	0	0	14653	739	26	3	1556	3	SLC4A1	17	42335417	Missense_Mutation	DNP	CC	TCGA-13-1509-01A-01W-0549-09	34758559	42335417	38859793	74	8280											
KLHL26	55295	genome.wustl.edu	37	19	18779040	18779040	+	Missense_Mutation	SNP	G	G	A	rs143852465		TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr19:18779040G>A	ENST00000300976.4	+	3	923	c.833G>A	c.(832-834)cGc>cAc	p.R278H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	278								p.R278H(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGCTGTGCCGCCAGTATCTG	0.647																																																1	Substitution - Missense(1)	ovary(1)	19						G	HIS/ARG	0,4366		0,0,2183	57	61	59		833	5	1	19	dbSNP_134	59	1,8543		0,1,4271	no	missense	KLHL26	NM_018316.1	29	0,1,6454	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	278/616	18779040	1,12909	2183	4272	6455	18640040	SO:0001583	missense	55295				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.833G>A	19.37:g.18779040G>A	ENSP00000300976:p.Arg278His		18640040	Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806519	0.50421	0.0	1.17E-4	ENSG00000167487	ENST00000300976	T	0.77229	-1.08	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	L	0.43152	1.355	0.80722	D	1	B	0.15719	0.014	B	0.11329	0.006	T	0.66073	-0.6014	9	.	.	.	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	278	Q53HC5	KLH26_HUMAN	H	278	ENSP00000300976:R278H	.	R	+	2	0	KLHL26	18640040	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.704000	0.84595	2.341000	0.79615	0.591000	0.81541	CGC		0.647	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		A	18779040	G	A	18779040	3	1	149	1	0	0	0	0	1	0	0	0	8381	1087	38	1	843	1	KLHL26	19	18779040	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09		18779040	40349943	75	8281											
NPHS1	4868	genome.wustl.edu	37	19	36335134	36335134	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr19:36335134G>A	ENST00000378910.5	-	16	2082	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	NPHS1_ENST00000353632.6_Missense_Mutation_p.R695W	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	695					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R695W(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGCGATGCCGGGGGCCGCCC	0.672																																																1	Substitution - Missense(1)	ovary(1)	19											20	25	24					19																	36335134		2202	4298	6500	41026974	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2083C>T	19.37:g.36335134G>A	ENSP00000368190:p.Arg695Trp		41026974	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232405	0.79688	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.75821	-0.97;-0.97	4.66	3.55	0.40652	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.079191	0.53938	D	0.000044	D	0.85712	0.5760	M	0.87758	2.905	0.45747	D	0.998645	D	0.89917	1.0	D	0.79108	0.992	D	0.86816	0.2001	10	0.59425	D	0.04	-27.7624	10.602	0.45373	0.0:0.0:0.8088:0.1911	.	695	O60500	NPHN_HUMAN	W	695	ENSP00000368190:R695W;ENSP00000343634:R695W	ENSP00000343634:R695W	R	-	1	2	NPHS1	41026974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.018000	0.40991	2.306000	0.77630	0.561000	0.74099	CGG		0.672	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			A	36335134	G	A	36335134	3	1	149	1	0	0	0	0	1	0	0	0	10582	1115	39	1	1698	1	NPHS1	19	36335134	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	17556094	36335134	22793849	76	8282											
LTBP4	8425	genome.wustl.edu	37	19	41115542	41115542	+	Silent	SNP	C	C	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr19:41115542C>G	ENST00000308370.7	+	13	1734	c.1734C>G	c.(1732-1734)ctC>ctG	p.L578L	LTBP4_ENST00000204005.9_Silent_p.L541L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.L511L|LTBP4_ENST00000545697.1_Silent_p.L31L|RN7SL758P_ENST00000580450.1_RNA	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	578	Cys-rich.|EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.L578L(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTTCCGGCTCAGCCCCCAGG	0.701																																																1	Substitution - coding silent(1)	ovary(1)	19											21	26	24					19																	41115542		2095	4216	6311	45807382	SO:0001819	synonymous_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.1734C>G	19.37:g.41115542C>G			45807382	O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37																																																																																					0.701	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		G	41115542	C	G	41115542	2	3	149	1	0	0	0	0	0	0	0	1	9076	813	29	3		3	LTBP4	19	41115542	Silent	SNP	C	TCGA-13-1509-01A-01W-0549-09	4780408	41115542	18013441	77	8283											
CYP2B6	1555	genome.wustl.edu	37	19	41518370	41518370	+	Nonsense_Mutation	SNP	C	C	T	rs34097093		TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr19:41518370C>T	ENST00000324071.4	+	7	1139	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	CYP2B6_ENST00000330446.5_Nonsense_Mutation_p.R178*|CYP2B6_ENST00000593831.1_Nonsense_Mutation_p.R142*	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	378					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.R378*(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CACCAGCTTCCGAGGGTACAT	0.512																																																1	Substitution - Nonsense(1)	ovary(1)	19						C	stop/ARG	2,4404		0,2,2201	93	79	84		1132	0.7	0.2	19	dbSNP_126	84	0,8600		0,0,4300	yes	stop-gained	CYP2B6	NM_000767.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		378/492	41518370	2,13004	2203	4300	6503	46210210	SO:0001587	stop_gained	1555			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1132C>T	19.37:g.41518370C>T	ENSP00000324648:p.Arg378*		46210210	B4DWP3|Q2V565|Q9UK46	Nonsense_Mutation	SNP	ENST00000324071.4	37	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.583312	0.65992	4.54E-4	0.0	ENSG00000197408	ENST00000324071;ENST00000330446	.	.	.	4.3	0.691	0.18045	.	0.062472	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8902	0.18909	0.4929:0.4106:0.0:0.0965	rs34097093	.	.	.	X	378;178	.	ENSP00000324648:R378X	R	+	1	2	CYP2B6	46210210	0.003000	0.15002	0.243000	0.24186	0.217000	0.24651	-0.553000	0.06012	0.421000	0.25980	0.298000	0.19748	CGA		0.512	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		T	41518370	C	T	41518370	4	4	149	1	0	0	0	0	0	1	0	0	4164	644	23	1	1158	1	CYP2B6	19	41518370	Nonsense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	402828	41518370	17610613	78	8284											
ZNF577	84765	genome.wustl.edu	37	19	52376611	52376611	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr19:52376611T>C	ENST00000301399.5	-	7	997	c.632A>G	c.(631-633)gAg>gGg	p.E211G	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.E152G|ZNF577_ENST00000451628.2_Missense_Mutation_p.E152G|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	211					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.E204G(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATGGGGCTTCTCTCCTGTGTG	0.468																																																1	Substitution - Missense(1)	ovary(1)	19											104	95	98					19																	52376611		2203	4300	6503	57068423	SO:0001583	missense	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.632A>G	19.37:g.52376611T>C	ENSP00000301399:p.Glu211Gly		57068423	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	13.59	2.283778	0.40394	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	3.1	3.1	0.35709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50633	0.1627	M	0.66506	2.035	0.29904	N	0.824165	D;P	0.89917	1.0;0.887	D;B	0.78314	0.991;0.402	T	0.47446	-0.9117	9	0.54805	T	0.06	.	10.7161	0.46013	0.0:0.0:0.0:1.0	.	211;152	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	G	211;152;152;211	ENSP00000301399:E211G;ENSP00000413476:E152G;ENSP00000389652:E152G;ENSP00000404509:E211G	ENSP00000301399:E211G	E	-	2	0	ZNF577	57068423	0.986000	0.35501	0.831000	0.32960	0.165000	0.22458	2.442000	0.44873	1.392000	0.46585	0.533000	0.62120	GAG		0.468	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		C	52376611	T	C	52376611	3	2	149	1	0	0	0	0	1	0	0	0	18009	1551	54	4	829	4	ZNF577	19	52376611	Missense_Mutation	SNP	T	TCGA-13-1509-01A-01W-0549-09	10858241	52376611	6752372	79	8285											
PRPF31	26121	genome.wustl.edu	37	19	54628017	54628017	+	Silent	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr19:54628017C>T	ENST00000321030.4	+	8	1186	c.837C>T	c.(835-837)atC>atT	p.I279I	PRPF31_ENST00000391755.1_Silent_p.I279I|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Silent_p.I279I	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	279	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)	p.I279I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGTGACATCGTGCAGTCCC	0.672																																																1	Substitution - coding silent(1)	ovary(1)	19											86	71	76					19																	54628017		2203	4300	6503	59319829	SO:0001819	synonymous_variant	26121			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.837C>T	19.37:g.54628017C>T			59319829	Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	CCDS12879.1																																																																																				0.672	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			T	54628017	C	T	54628017	2	4	149	1	0	0	0	0	0	0	0	1	12569	874	31	1		1	PRPF31	19	54628017	Silent	SNP	C	TCGA-13-1509-01A-01W-0549-09	2251406	54628017	4500966	80	8286											
PPM1F	9647	genome.wustl.edu	37	22	22287785	22287785	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr22:22287785A>G	ENST00000263212.5	-	5	830	c.725T>C	c.(724-726)tTt>tCt	p.F242S	PPM1F_ENST00000538191.1_Missense_Mutation_p.F138S|PPM1F_ENST00000397495.4_Missense_Mutation_p.F242S|PPM1F_ENST00000407142.1_Missense_Mutation_p.F74S	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	242					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)	p.F242S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TTTCCTGAGAAACATCTGGTC	0.647																																																1	Substitution - Missense(1)	ovary(1)	22											51	48	49					22																	22287785		2203	4300	6503	20617785	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.725T>C	22.37:g.22287785A>G	ENSP00000263212:p.Phe242Ser		20617785	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.364670	0.61513	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495;ENST00000445205	T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82	4.81	4.81	0.61882	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.43702	-0.9375	10	0.87932	D	0	-5.8303	14.53	0.67917	1.0:0.0:0.0:0.0	.	138;242;242	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	S	242;74;74;138;242;74	ENSP00000263212:F242S;ENSP00000384930:F74S;ENSP00000439915:F138S;ENSP00000380632:F242S;ENSP00000392372:F74S	ENSP00000263212:F242S	F	-	2	0	PPM1F	20617785	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	8.920000	0.92779	2.025000	0.59659	0.459000	0.35465	TTT		0.647	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		G	22287785	A	G	22287785	3	3	149	1	0	0	0	0	1	0	0	0	12342	14	1	4	655	4	PPM1F	22	22287785	Missense_Mutation	SNP	A	TCGA-13-1509-01A-01W-0549-09		22287785	29016781	81	8287											
PHF21B	112885	genome.wustl.edu	37	22	45291957	45291957	+	Missense_Mutation	SNP	C	C	T	rs114160106		TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr22:45291957C>T	ENST00000313237.5	-	6	988	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	PHF21B_ENST00000403565.1_Missense_Mutation_p.A76T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A226T|PHF21B_ENST00000396103.3_Missense_Mutation_p.A238T|PHF21B_ENST00000404079.2_Missense_Mutation_p.A226T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	280							zinc ion binding (GO:0008270)	p.A280T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		ACCATGAAGGCGATTTTCTGA	0.522													C|||	1	0.000199681	0	0	5008	,	,		22545	0.001		0	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(1)|kidney(1)	22											207	177	187					22																	45291957		2203	4300	6503	43670621	SO:0001583	missense	112885			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.838G>A	22.37:g.45291957C>T	ENSP00000324403:p.Ala280Thr		43670621	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	CCDS14061.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.086356	0.94100	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000414269	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000003	T	0.70202	0.3197	L	0.57536	1.79	0.53005	D	0.999965	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.998;0.997;0.997	T	0.73170	-0.4067	10	0.87932	D	0	-22.9051	17.5745	0.87944	0.0:1.0:0.0:0.0	.	226;238;226;280;76	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;.;PF21B_HUMAN;.	T	76;280;238;226;226;76	ENSP00000385053:A76T;ENSP00000324403:A280T;ENSP00000379410:A238T;ENSP00000385105:A226T;ENSP00000388619:A226T;ENSP00000401091:A76T	ENSP00000324403:A280T	A	-	1	0	PHF21B	43670621	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.541000	0.73865	2.412000	0.81896	0.563000	0.77884	GCC		0.522	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		T	45291957	C	T	45291957	3	4	149	1	0	0	0	0	1	0	0	0	11834	768	27	1	789	1	PHF21B	22	45291957	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	23004172	45291957	6012609	82	8288											
TTLL8	164714	genome.wustl.edu	37	22	50479675	50479675	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr22:50479675T>C	ENST00000266182.6	-	8	861	c.862A>G	c.(862-864)Atc>Gtc	p.I288V	TTLL8_ENST00000440475.1_Intron			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	317	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.I288V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		ATTTTGAAGATGCACAAGACA	0.567																																																1	Substitution - Missense(1)	ovary(1)	22											149	160	157					22																	50479675		1960	4155	6115	48821802	SO:0001583	missense	164714					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.862A>G	22.37:g.50479675T>C	ENSP00000266182:p.Ile288Val		48821802	B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37		.	.	.	.	.	.	.	.	.	.	T	1.120	-0.655490	0.03480	.	.	ENSG00000138892	ENST00000266182	T	0.04156	3.69	2.1	-0.538	0.11868	.	3.869540	0.02509	U	0.091310	T	0.02929	0.0087	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40961	-0.9535	9	0.19590	T	0.45	.	2.8342	0.05509	0.2378:0.0:0.3455:0.4167	.	288	B5MDV0	.	V	288	ENSP00000266182:I288V	ENSP00000266182:I288V	I	-	1	0	TTLL8	48821802	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.255000	0.02872	-0.183000	0.10585	-0.686000	0.03744	ATC		0.567	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		C	50479675	T	C	50479675	3	2	149	1	0	0	0	0	1	0	0	0	16733	1464	51	4	1669	4	TTLL8	22	50479675	Missense_Mutation	SNP	T	TCGA-13-1509-01A-01W-0549-09	5187718	50479675	824891	83	8289											
MOV10L1	54456	genome.wustl.edu	37	22	50563959	50563959	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chr22:50563959G>T	ENST00000262794.5	+	11	1791	c.1708G>T	c.(1708-1710)Gtc>Ttc	p.V570F	MOV10L1_ENST00000395858.3_Missense_Mutation_p.V570F|MOV10L1_ENST00000540615.1_Missense_Mutation_p.V550F|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.V570F	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	570					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.V570F(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTTCTGGAGGTCCCAGGGTT	0.483																																																1	Substitution - Missense(1)	ovary(1)	22											134	135	134					22																	50563959		2203	4300	6503	48906086	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1708G>T	22.37:g.50563959G>T	ENSP00000262794:p.Val570Phe		48906086	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795243	0.70452	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.93547	-3.06;-3.06;-2.65;-3.24	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.83275	0.996;0.991;0.979;0.979	D	0.97476	1.0044	10	0.87932	D	0	-39.7167	18.3108	0.90199	0.0:0.0:1.0:0.0	.	331;550;570;570	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	F	570;570;570;550	ENSP00000438978:V570F;ENSP00000262794:V570F;ENSP00000379199:V570F;ENSP00000438542:V550F	ENSP00000262794:V570F	V	+	1	0	MOV10L1	48906086	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	7.303000	0.78871	2.679000	0.91253	0.544000	0.68410	GTC		0.483	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50563959	G	T	50563959	3	4	149	1	0	0	0	0	1	0	0	0	9719	1261	44	3	1791	3	MOV10L1	22	50563959	Missense_Mutation	SNP	G	TCGA-13-1509-01A-01W-0549-09	84284	50563959	740607	84	8290											
ZNF711	7552	genome.wustl.edu	37	X	84526379	84526379	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chrX:84526379T>C	ENST00000373165.3	+	9	2137	c.1831T>C	c.(1831-1833)Tct>Cct	p.S611P	ZNF711_ENST00000542798.1_Missense_Mutation_p.S453P|ZNF711_ENST00000276123.3_Missense_Mutation_p.S611P|ZNF711_ENST00000360700.4_Missense_Mutation_p.S657P|ZNF711_ENST00000395402.1_Missense_Mutation_p.S619P	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	611					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S621P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCACATCATATCTGTCCATAC	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											83	64	70					X																	84526379		2203	4300	6503	84413035	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1831T>C	X.37:g.84526379T>C	ENSP00000362260:p.Ser611Pro		84413035	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234609	0.58886	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	5.5	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.42682	D	0.000669	T	0.33235	0.0856	L	0.48877	1.53	0.52501	D	0.999958	D;D	0.76494	0.992;0.999	D;D	0.81914	0.981;0.995	T	0.01993	-1.1233	10	0.72032	D	0.01	-11.3456	11.7771	0.51991	0.0:0.0:0.1451:0.8549	.	657;611	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	P	619;611;611;657;453	ENSP00000378798:S619P;ENSP00000362260:S611P;ENSP00000276123:S611P;ENSP00000353922:S657P;ENSP00000442071:S453P	ENSP00000276123:S611P	S	+	1	0	ZNF711	84413035	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.040000	0.89188	0.701000	0.31803	0.417000	0.27973	TCT		0.418	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		C	84526379	T	C	84526379	3	2	149	1	0	0	0	0	1	0	0	0	18116	1435	50	4	1857	4	ZNF711	23	84526379	Missense_Mutation	SNP	T	TCGA-13-1509-01A-01W-0549-09		84526379	70744181	85	8291											
CXorf57	55086	genome.wustl.edu	37	X	105868476	105868476	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1509-01A-01W-0549-09	TCGA-13-1509-10A-01W-0550-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4d3fab96-bc22-48d0-a3ef-1844ad894d0f	e0bcad8c-d151-47f7-8236-e274a281c56e	g.chrX:105868476C>T	ENST00000372548.4	+	3	1052	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	CXorf57_ENST00000372544.2_Missense_Mutation_p.P315S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	315							poly(A) RNA binding (GO:0044822)	p.P315S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ACAGCCTGTCCCCGTGGATCC	0.368																																																1	Substitution - Missense(1)	ovary(1)	X											125	110	115					X																	105868476		2203	4300	6503	105755132	SO:0001583	missense	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.943C>T	X.37:g.105868476C>T	ENSP00000361628:p.Pro315Ser		105755132	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388357	0.25118	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.46063	0.89;0.88;0.92	3.89	3.02	0.34903	Nucleic acid-binding, OB-fold-like (1);	0.238642	0.42172	D	0.000750	T	0.48484	0.1502	L	0.41236	1.265	0.35581	D	0.806287	B;B;D	0.76494	0.297;0.297;0.999	B;B;D	0.85130	0.134;0.134;0.997	T	0.51092	-0.8749	10	0.13108	T	0.6	-9.1425	10.2285	0.43241	0.0:0.8931:0.0:0.1069	.	315;315;315	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	S	315;315;123	ENSP00000361623:P315S;ENSP00000361628:P315S;ENSP00000405866:P123S	ENSP00000361623:P315S	P	+	1	0	CXorf57	105755132	0.350000	0.24878	0.389000	0.26208	0.162000	0.22319	2.922000	0.48860	0.755000	0.32990	-0.192000	0.12808	CCC		0.368	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		T	105868476	C	T	105868476	3	4	149	1	0	0	0	0	1	0	0	0	4113	623	22	2	953	2	CXorf57	23	105868476	Missense_Mutation	SNP	C	TCGA-13-1509-01A-01W-0549-09	21342097	105868476	49402084	86	8292											
FABP3	2170	broad.mit.edu	37	1	31845845	31845845	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr1:31845845A>C	ENST00000373713.2	-	1	78	c.17T>G	c.(16-18)cTg>cGg	p.L6R		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	6					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)	p.L6R(1)		large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		CCAGGTGCCCAGGAAAGCGTC	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											86	74	78					1																	31845845		2203	4300	6503	31618432	SO:0001583	missense	2170			U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"Fatty acid binding protein family"	3557	protein-coding gene	gene with protein product		134651	"fatty acid binding protein 11"	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.17T>G	1.37:g.31845845A>C	ENSP00000362817:p.Leu6Arg		31618432	B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	ENST00000373713.2	37	CCDS342.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429239	0.43122	.	.	ENSG00000121769	ENST00000373713	T	0.46451	0.87	4.71	-0.0626	0.13780	Calycin-like (1);Cytosolic fatty-acid binding (1);Calycin (1);	0.634934	0.15892	N	0.239524	T	0.43299	0.1241	M	0.67397	2.05	0.09310	N	1	B	0.29212	0.237	B	0.38755	0.281	T	0.48875	-0.8996	10	0.72032	D	0.01	.	7.9016	0.29738	0.5094:0.0:0.4906:0.0	.	6	P05413	FABPH_HUMAN	R	6	ENSP00000362817:L6R	ENSP00000362817:L6R	L	-	2	0	FABP3	31618432	0.000000	0.05858	0.246000	0.24233	0.937000	0.57800	-0.525000	0.06214	0.092000	0.17331	0.529000	0.55759	CTG		0.612	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		C	31845845	A	C	31845845	3	2	150	1	0	0	0	0	1	0	0	0	5358	188	7	5	400	5	FABP3	1	31845845	Missense_Mutation	SNP	A	TCGA-13-1510-01A-02D-0472-08		31845845	217404776	1	8293											
POMC	5443	broad.mit.edu	37	2	25387508	25387508	+	Splice_Site	SNP	A	A	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:25387508A>C	ENST00000405623.1	-	2	588		c.e2+1		POMC_ENST00000380794.1_Splice_Site|POMC_ENST00000264708.3_Splice_Site|POMC_ENST00000395826.2_Splice_Site			P01189	COLI_HUMAN	proopiomelanocortin						cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.?(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TGGCCCACGTACCAGCAGGTT	0.557																																					Colon(110;1515 1566 8452 10082 43216)											1	Unknown(1)	ovary(1)	2											103	101	102					2																	25387508		2203	4300	6503	25241012	SO:0001630	splice_region_variant	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.132+1T>G	2.37:g.25387508A>C			25241012	P78442|Q53T23|Q9UD39|Q9UD40	Splice_Site	SNP	ENST00000405623.1	37	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785665	0.70337	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4351	0.67274	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POMC	25241012	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.216000	0.72212	2.146000	0.66826	0.379000	0.24179	.		0.557	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256	Intron	C	25387508	A	C	25387508	5	2	150	1	0	0	0	0	0	0	1	0	12242	405	14	5	677	5	POMC	2	25387508	Splice_Site	SNP	A	TCGA-13-1510-01A-02D-0472-08		25387508	217811865	2	8294											
PLB1	151056	broad.mit.edu	37	2	28814614	28814614	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:28814614G>C	ENST00000327757.5	+	31	2219	c.2175G>C	c.(2173-2175)ttG>ttC	p.L725F	PLB1_ENST00000329020.6_Missense_Mutation_p.L413F|PLB1_ENST00000422425.2_Missense_Mutation_p.L714F	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	725	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.L725F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTTCTGCCTTGCACCCTACCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											93	87	89					2																	28814614		2203	4300	6503	28668118	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2175G>C	2.37:g.28814614G>C	ENSP00000330442:p.Leu725Phe		28668118	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.933|8.933	0.963923|0.963923	0.18583|0.18583	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	.|T;T;T;T	.|0.11930	.|2.74;2.75;2.73;2.74	5.83|5.83	-11.7|-11.7	0.00046|0.00046	.|.	.|0.708385	.|0.12776	.|N	.|0.440066	T|T	0.04907|0.04907	0.0132|0.0132	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.34372	.|0.305;0.451;0.278;0.443	.|B;B;B;B	.|0.40066	.|0.318;0.306;0.212;0.11	T|T	0.44636|0.44636	-0.9315|-0.9315	5|10	.|0.56958	.|D	.|0.05	-1.1054|-1.1054	2.7954|2.7954	0.05400|0.05400	0.4546:0.1859:0.0732:0.2864|0.4546:0.1859:0.0732:0.2864	.|.	.|714;725;413;725	.|Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6	.|.;.;.;PLB1_HUMAN	S|F	713|725;714;435;413	.|ENSP00000330442:L725F;ENSP00000416440:L714F;ENSP00000392493:L435F;ENSP00000330729:L413F	.|ENSP00000330442:L725F	C|L	+|+	2|3	0|2	PLB1|PLB1	28668118|28668118	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.120000|0.120000	0.20174|0.20174	-4.339000|-4.339000	0.00250|0.00250	-4.130000|-4.130000	0.00071|0.00071	-1.193000|-1.193000	0.01689|0.01689	TGC|TTG		0.572	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			C	28814614	G	C	28814614	3	2	150	1	0	0	0	0	1	0	0	0	12024	1310	46	3	2330	3	PLB1	2	28814614	Missense_Mutation	SNP	G	TCGA-13-1510-01A-02D-0472-08	3427106	28814614	214384759	3	8295											
SPR	6697	broad.mit.edu	37	2	73118520	73118520	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:73118520G>A	ENST00000234454.5	+	3	713	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	214					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)	p.V214M(1)		lung(4)|ovary(2)	6						GGAGACCTCCGTGGACCCAGA	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											70	66	67					2																	73118520		2203	4300	6503	72972028	SO:0001583	missense	6697				CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	11257	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 38C, member 1"	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.640G>A	2.37:g.73118520G>A	ENSP00000234454:p.Val214Met		72972028	A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	ENST00000234454.5	37	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	G	4.834	0.155107	0.09236	.	.	ENSG00000116096	ENST00000234454	D	0.91521	-2.86	4.72	-1.54	0.08584	NAD(P)-binding domain (1);	0.714340	0.13431	N	0.388400	T	0.75635	0.3876	N	0.04090	-0.28	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.63427	-0.6640	10	0.37606	T	0.19	-27.5021	8.4194	0.32692	0.5359:0.0:0.4641:0.0	.	214	P35270	SPRE_HUMAN	M	214	ENSP00000234454:V214M	ENSP00000234454:V214M	V	+	1	0	SPR	72972028	0.000000	0.05858	0.087000	0.20705	0.520000	0.34377	0.614000	0.24314	-0.160000	0.11002	-1.300000	0.01332	GTG		0.557	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			A	73118520	G	A	73118520	3	1	150	1	0	0	0	0	1	0	0	0	15093	1145	40	1	650	1	SPR	2	73118520	Missense_Mutation	SNP	G	TCGA-13-1510-01A-02D-0472-08	44303906	73118520	170080853	4	8296											
SCN3A	6328	broad.mit.edu	37	2	165952156	165952156	+	Silent	SNP	A	A	G			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:165952156A>G	ENST00000360093.3	-	25	4787	c.4296T>C	c.(4294-4296)gtT>gtC	p.V1432V	SCN3A_ENST00000283254.7_Silent_p.V1432V|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Silent_p.V1383V|SCN3A_ENST00000540861.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1432					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1432V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGAAGTTTAACCTAAATGA	0.269																																																1	Substitution - coding silent(1)	ovary(1)	2											38	37	37					2																	165952156		2198	4293	6491	165660402	SO:0001819	synonymous_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4296T>C	2.37:g.165952156A>G			165660402	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.269	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		G	165952156	A	G	165952156	2	3	150	1	0	0	0	0	0	0	0	1	13921	349	13	4		4	SCN3A	2	165952156	Silent	SNP	A	TCGA-13-1510-01A-02D-0472-08	92833636	165952156	77247217	5	8297											
MAP2	4133	broad.mit.edu	37	2	210518128	210518128	+	Silent	SNP	G	G	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:210518128G>A	ENST00000360351.4	+	4	740	c.234G>A	c.(232-234)gaG>gaA	p.E78E	MAP2_ENST00000392194.1_Silent_p.E78E|MAP2_ENST00000447185.1_Silent_p.E78E|MAP2_ENST00000199940.6_Silent_p.E78E|MAP2_ENST00000361559.4_Silent_p.E78E	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	78					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E78E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCAACGGAGAGCTGACCTCAG	0.473																																					Pancreas(27;423 979 28787 29963)											1	Substitution - coding silent(1)	ovary(1)	2											100	102	101					2																	210518128		2203	4300	6503	210226373	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.234G>A	2.37:g.210518128G>A			210226373	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		A	210518128	G	A	210518128	2	1	150	1	0	0	0	0	0	0	0	1	9235	962	34	2		2	MAP2	2	210518128	Silent	SNP	G	TCGA-13-1510-01A-02D-0472-08	44565972	210518128	32681245	6	8298											
CD80	941	broad.mit.edu	37	3	119256010	119256010	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr3:119256010A>T	ENST00000264246.3	-	4	1036	c.674T>A	c.(673-675)gTg>gAg	p.V225E	CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Missense_Mutation_p.V225E|CD80_ENST00000383669.3_Missense_Mutation_p.V225E	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	225	Ig-like C2-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.V225E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	GGTCTGATTCACTCTTAAATG	0.373																																					Melanoma(132;135 1764 1806 5833 14593)											1	Substitution - Missense(1)	ovary(1)	3											203	192	196					3																	119256010		2203	4300	6503	120738700	SO:0001583	missense	941				CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.674T>A	3.37:g.119256010A>T	ENSP00000264246:p.Val225Glu		120738700	Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576358	0.65878	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669	T;T;T	0.74737	-0.87;-0.87;-0.87	5.19	5.19	0.71726	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000295	D	0.84924	0.5580	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84701	0.0728	10	0.38643	T	0.18	-18.903	11.3641	0.49662	1.0:0.0:0.0:0.0	.	225;225	Q5DTB0;P33681	.;CD80_HUMAN	E	225	ENSP00000264246:V225E;ENSP00000418364:V225E;ENSP00000373165:V225E	ENSP00000264246:V225E	V	-	2	0	CD80	120738700	0.888000	0.30383	0.788000	0.31933	0.047000	0.14425	3.987000	0.56944	2.175000	0.68902	0.528000	0.53228	GTG		0.373	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		T	119256010	A	T	119256010	3	4	150	1	0	0	0	0	1	0	0	0	3038	159	6	5	204	5	CD80	3	119256010	Missense_Mutation	SNP	A	TCGA-13-1510-01A-02D-0472-08		119256010	78766420	7	8299											
MBD4	8930	broad.mit.edu	37	3	129155468	129155468	+	Missense_Mutation	SNP	T	T	C	rs372593697		TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr3:129155468T>C	ENST00000249910.1	-	3	1194	c.1019A>G	c.(1018-1020)aAa>aGa	p.K340R	MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.K340R|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.K340R|MBD4_ENST00000429544.2_Missense_Mutation_p.K340R	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	340					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.K340R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTGAGTCTTTGGCTGAACA	0.328								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	ovary(1)	3						T	ARG/LYS	2,4404	4.2+/-10.8	0,2,2201	102	109	107		1019	-3	0	3		107	0,8600		0,0,4300	no	missense	MBD4	NM_003925.1	26	0,2,6501	CC,CT,TT		0.0,0.0454,0.0154	benign	340/581	129155468	2,13004	2203	4300	6503	130638158	SO:0001583	missense	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1019A>G	3.37:g.129155468T>C	ENSP00000249910:p.Lys340Arg		130638158	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331968	0.24167	4.54E-4	0.0	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.93133	-2.97;-2.97;-3.17;-3.17	5.65	-2.99	0.05497	.	1.130980	0.06294	N	0.699639	D	0.84647	0.5518	N	0.24115	0.695	0.22858	N	0.998647	B;B;B;B	0.09022	0.002;0.001;0.0;0.002	B;B;B;B	0.09377	0.001;0.004;0.001;0.002	T	0.69840	-0.5036	10	0.16420	T	0.52	-0.0792	5.4198	0.16394	0.0:0.3042:0.2532:0.4426	.	340;340;340;340	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	R	340	ENSP00000394080:K340R;ENSP00000249910:K340R;ENSP00000424873:K340R;ENSP00000422327:K340R	ENSP00000249910:K340R	K	-	2	0	MBD4	130638158	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.192000	0.09587	-0.864000	0.04078	-0.450000	0.05554	AAA		0.328	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		C	129155468	T	C	129155468	3	2	150	1	0	0	0	0	1	0	0	0	9346	1841	64	4	747	4	MBD4	3	129155468	Missense_Mutation	SNP	T	TCGA-13-1510-01A-02D-0472-08	9899458	129155468	68866962	8	8300											
TNIK	23043	broad.mit.edu	37	3	170811744	170811744	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr3:170811744G>T	ENST00000436636.2	-	23	2949	c.2605C>A	c.(2605-2607)Cca>Aca	p.P869T	TNIK_ENST00000284483.8_Missense_Mutation_p.P861T|TNIK_ENST00000369326.5_Missense_Mutation_p.P847T|TNIK_ENST00000475336.1_Missense_Mutation_p.P777T|TNIK_ENST00000470834.1_Missense_Mutation_p.P832T|TNIK_ENST00000357327.5_Missense_Mutation_p.P840T|TNIK_ENST00000538048.1_Missense_Mutation_p.P821T|TNIK_ENST00000341852.6_Missense_Mutation_p.P785T|TNIK_ENST00000460047.1_Missense_Mutation_p.P806T|TNIK_ENST00000488470.1_Missense_Mutation_p.P814T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	869	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P869T(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTGCTGCCTGGAGCTCCTGTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											94	95	95					3																	170811744		2081	4232	6313	172294438	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2605C>A	3.37:g.170811744G>T	ENSP00000399511:p.Pro869Thr		172294438	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	7.697	0.692217	0.15039	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.39	5.39	0.77823	.	0.615270	0.16610	N	0.206957	T	0.61714	0.2369	L	0.29908	0.895	0.32042	N	0.598097	B;B;B;B;B;B;B;B	0.15473	0.013;0.001;0.013;0.013;0.01;0.001;0.013;0.006	B;B;B;B;B;B;B;B	0.22386	0.01;0.009;0.01;0.01;0.039;0.009;0.01;0.017	T	0.60662	-0.7219	10	0.22109	T	0.4	.	9.7814	0.40651	0.1529:0.0:0.8471:0.0	.	777;832;806;785;861;840;814;869	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	T	869;847;821;785;861;777;840;806;814;832	ENSP00000399511:P869T;ENSP00000358332:P847T;ENSP00000443278:P821T;ENSP00000345352:P785T;ENSP00000284483:P861T;ENSP00000418156:P777T;ENSP00000349880:P840T;ENSP00000418916:P806T;ENSP00000418378:P814T;ENSP00000419990:P832T	ENSP00000284483:P861T	P	-	1	0	TNIK	172294438	1.000000	0.71417	0.965000	0.40720	0.879000	0.50718	4.128000	0.57951	2.500000	0.84329	0.655000	0.94253	CCA		0.453	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		T	170811744	G	T	170811744	3	4	150	1	0	0	0	0	1	0	0	0	16313	1174	41	3	1521	3	TNIK	3	170811744	Missense_Mutation	SNP	G	TCGA-13-1510-01A-02D-0472-08	41656276	170811744	27210686	9	8301											
PPP1R3A	5506	broad.mit.edu	37	7	113519908	113519908	+	Silent	SNP	T	T	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr7:113519908T>A	ENST00000284601.3	-	4	1307	c.1239A>T	c.(1237-1239)ggA>ggT	p.G413G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	413					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.G413G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTGATTTCTCCCATATTTG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	7											157	147	150					7																	113519908		2203	4300	6503	113307144	SO:0001819	synonymous_variant	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1239A>T	7.37:g.113519908T>A			113307144	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	CCDS5759.1																																																																																				0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113519908	T	A	113519908	2	1	150	1	0	0	0	0	0	0	0	1	12374	1538	54	5		5	PPP1R3A	7	113519908	Silent	SNP	T	TCGA-13-1510-01A-02D-0472-08		113519908	45618755	10	8302											
SQLE	6713	broad.mit.edu	37	8	126011654	126011654	+	Silent	SNP	T	T	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr8:126011654T>A	ENST00000265896.5	+	1	907	c.9T>A	c.(7-9)acT>acA	p.T3T	SQLE_ENST00000523430.1_Intron|RP11-6D1.3_ENST00000523030.1_RNA	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	3					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)	p.T3T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CCATGTGGACTTTTCTGGGCA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	8											56	57	57					8																	126011654		1932	4136	6068	126080835	SO:0001819	synonymous_variant	6713			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.9T>A	8.37:g.126011654T>A			126080835	Q9UEK6	Silent	SNP	ENST00000265896.5	37	CCDS47918.1																																																																																				0.498	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		A	126011654	T	A	126011654	2	1	150	1	0	0	0	0	0	0	0	1	15130	1596	56	5		5	SQLE	8	126011654	Silent	SNP	T	TCGA-13-1510-01A-02D-0472-08		126011654	20352368	11	8303											
TIMELESS	8914	broad.mit.edu	37	12	56824745	56824745	+	Silent	SNP	G	G	T	rs267603584		TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr12:56824745G>T	ENST00000553532.1	-	9	979	c.829C>A	c.(829-831)Cga>Aga	p.R277R	TIMELESS_ENST00000229201.4_Silent_p.R276R|TIMELESS_ENST00000554616.1_Silent_p.R277R					timeless circadian clock									p.R277R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCCCCAAATCGAGAATGCCTG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	12											101	104	103					12																	56824745		2203	4300	6503	55111012	SO:0001819	synonymous_variant	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.829C>A	12.37:g.56824745G>T			55111012		Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																				0.438	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		T	56824745	G	T	56824745	2	4	150	1	0	0	0	0	0	0	0	1	15904	1066	37	3		3	TIMELESS	12	56824745	Silent	SNP	G	TCGA-13-1510-01A-02D-0472-08		56824745	77027150	12	8304											
CDK17	5128	broad.mit.edu	37	12	96688840	96688840	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr12:96688840G>C	ENST00000261211.3	-	10	1537	c.934C>G	c.(934-936)Cga>Gga	p.R312G	CDK17_ENST00000543119.2_Missense_Mutation_p.R312G|CDK17_ENST00000542666.1_Missense_Mutation_p.R259G|CDK17_ENST00000553042.1_5'UTR	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.R312G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TTCAAGTCTCGATGCAATACC	0.343																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	12											137	129	132					12																	96688840		2203	4300	6503	95212971	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.934C>G	12.37:g.96688840G>C	ENSP00000261211:p.Arg312Gly		95212971	A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573325	0.65765	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.64991	-0.13;-0.13;-0.13	5.09	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052553	0.85682	D	0.000000	D	0.85071	0.5613	H	0.96633	3.855	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89383	0.3683	10	0.87932	D	0	-7.2266	13.0612	0.59008	0.0:0.0:0.7079:0.2921	.	312;312	A8K1U6;Q00537	.;CDK17_HUMAN	G	312;312;259	ENSP00000261211:R312G;ENSP00000444459:R312G;ENSP00000442926:R259G	ENSP00000261211:R312G	R	-	1	2	CDK17	95212971	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.936000	0.63506	1.267000	0.44247	0.491000	0.48974	CGA		0.343	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		C	96688840	G	C	96688840	3	2	150	1	0	0	0	0	1	0	0	0	3133	1066	37	3	707	3	CDK17	12	96688840	Missense_Mutation	SNP	G	TCGA-13-1510-01A-02D-0472-08	39864095	96688840	37163055	13	8305											
SACS	26278	broad.mit.edu	37	13	23914961	23914961	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr13:23914961C>G	ENST00000382292.3	-	9	3327	c.3054G>C	c.(3052-3054)gaG>gaC	p.E1018D	SACS_ENST00000402364.1_Missense_Mutation_p.E268D|SACS_ENST00000382298.3_Missense_Mutation_p.E1018D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1018					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E871D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATAGATTCTCAAGGACCC	0.348																																																1	Substitution - Missense(1)	ovary(1)	13											119	123	122					13																	23914961		2203	4300	6503	22812961	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3054G>C	13.37:g.23914961C>G	ENSP00000371729:p.Glu1018Asp		22812961	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380023	0.42207	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86956	-2.04;-2.19;-2.04	6.05	1.86	0.25419	.	0.155386	0.56097	N	0.000022	T	0.74854	0.3771	L	0.29908	0.895	0.26316	N	0.97775	B	0.28233	0.204	B	0.23419	0.046	T	0.62353	-0.6872	10	0.37606	T	0.19	.	4.7565	0.13086	0.0:0.456:0.1594:0.3846	.	1018	Q9NZJ4	SACS_HUMAN	D	1018;268;1018	ENSP00000371729:E1018D;ENSP00000385844:E268D;ENSP00000371735:E1018D	ENSP00000371729:E1018D	E	-	3	2	SACS	22812961	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.616000	0.24344	0.433000	0.26313	0.650000	0.86243	GAG		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23914961	C	G	23914961	3	3	150	1	0	0	0	0	1	0	0	0	13807	912	32	3	10689	3	SACS	13	23914961	Missense_Mutation	SNP	C	TCGA-13-1510-01A-02D-0472-08		23914961	91254917	14	8306											
TRPM7	54822	broad.mit.edu	37	15	50884152	50884152	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr15:50884152G>C	ENST00000313478.7	-	26	4561	c.4280C>G	c.(4279-4281)tCt>tGt	p.S1427C	TRPM7_ENST00000560955.1_Missense_Mutation_p.S1427C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1427					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S1427C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGTAGCTTTAGAGCAAACAGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	15											100	96	97					15																	50884152		1832	4074	5906	48671444	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4280C>G	15.37:g.50884152G>C	ENSP00000320239:p.Ser1427Cys		48671444	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	8.986	0.976540	0.18736	.	.	ENSG00000092439	ENST00000313478	T	0.54675	0.56	5.91	1.78	0.24846	.	1.407100	0.03950	N	0.288352	T	0.37999	0.1024	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.22138	-1.0225	10	0.44086	T	0.13	0.0435	5.037	0.14440	0.0648:0.2328:0.4489:0.2535	.	1427	Q96QT4	TRPM7_HUMAN	C	1427	ENSP00000320239:S1427C	ENSP00000320239:S1427C	S	-	2	0	TRPM7	48671444	0.999000	0.42202	0.074000	0.20217	0.665000	0.39181	1.490000	0.35573	0.079000	0.16929	0.558000	0.71614	TCT		0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		C	50884152	G	C	50884152	3	2	150	1	0	0	0	0	1	0	0	0	16591	942	33	3	1373	3	TRPM7	15	50884152	Missense_Mutation	SNP	G	TCGA-13-1510-01A-02D-0472-08		50884152	51647240	15	8307											
ALOX15	246	broad.mit.edu	37	17	4542416	4542416	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr17:4542416C>A	ENST00000570836.1	-	4	445	c.349G>T	c.(349-351)Ggc>Tgc	p.G117C	ALOX15_ENST00000293761.3_Missense_Mutation_p.G117C|ALOX15_ENST00000574640.1_Missense_Mutation_p.G78C|ALOX15_ENST00000545513.1_Missense_Mutation_p.G139C			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	117	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G117C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GGGTCCTCGCCCACAGTGCGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											136	130	132					17																	4542416		2203	4300	6503	4489165	SO:0001583	missense	246			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.349G>T	17.37:g.4542416C>A	ENSP00000458832:p.Gly117Cys		4489165	A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	7.704	0.693705	0.15039	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.08008	3.14;3.14	4.22	1.05	0.20165	Lipoxygenase, C-terminal (2);	0.926595	0.09054	N	0.855419	T	0.08088	0.0202	L	0.27053	0.805	0.09310	N	1	B;P;P	0.43519	0.222;0.809;0.809	B;P;P	0.48270	0.138;0.469;0.572	T	0.32402	-0.9908	10	0.41790	T	0.15	-21.1961	2.3938	0.04385	0.1895:0.4867:0.2153:0.1085	.	139;78;117	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	C	117;139	ENSP00000293761:G117C;ENSP00000439855:G139C	ENSP00000293761:G117C	G	-	1	0	ALOX15	4489165	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.170000	0.09897	0.518000	0.28383	-1.360000	0.01215	GGC		0.602	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			A	4542416	C	A	4542416	3	1	150	1	0	0	0	0	1	0	0	0	538	623	22	3	1687	3	ALOX15	17	4542416	Missense_Mutation	SNP	C	TCGA-13-1510-01A-02D-0472-08		4542416	76652794	16	8308											
MYH4	4622	broad.mit.edu	37	17	10346815	10346815	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr17:10346815C>A	ENST00000255381.2	-	40	5807	c.5697G>T	c.(5695-5697)aaG>aaT	p.K1899N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1899					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.K1899N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTGCGGAACTTGGCAAGGT	0.468																																																1	Substitution - Missense(1)	ovary(1)	17											114	103	107					17																	10346815		2203	4300	6503	10287540	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5697G>T	17.37:g.10346815C>A	ENSP00000255381:p.Lys1899Asn		10287540		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810487	0.70797	.	.	ENSG00000141048	ENST00000255381	D	0.84146	-1.81	5.0	-4.61	0.03380	Myosin tail (1);	0.000000	0.39083	U	0.001468	D	0.90410	0.6998	M	0.83012	2.62	0.42219	D	0.991846	P	0.46784	0.884	D	0.63488	0.915	D	0.90051	0.4149	10	0.87932	D	0	.	14.8038	0.69935	0.0:0.4134:0.0:0.5866	.	1899	Q9Y623	MYH4_HUMAN	N	1899	ENSP00000255381:K1899N	ENSP00000255381:K1899N	K	-	3	2	MYH4	10287540	0.244000	0.23889	0.812000	0.32479	0.990000	0.78478	-0.295000	0.08298	-0.695000	0.05105	0.655000	0.94253	AAG		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10346815	C	A	10346815	3	1	150	1	0	0	0	0	1	0	0	0	10037	564	20	3	126	3	MYH4	17	10346815	Missense_Mutation	SNP	C	TCGA-13-1510-01A-02D-0472-08	5804399	10346815	70848395	17	8309											
RIOK3	8780	broad.mit.edu	37	18	21044582	21044582	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr18:21044582G>C	ENST00000339486.3	+	5	1150	c.533G>C	c.(532-534)aGa>aCa	p.R178T	RIOK3_ENST00000577501.1_Missense_Mutation_p.R178T|RIOK3_ENST00000581585.1_Missense_Mutation_p.R162T	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	178					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R178T(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACACAGCAAGAATGGAAAAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	18											73	69	70					18																	21044582		2203	4300	6503	19298580	SO:0001583	missense	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.533G>C	18.37:g.21044582G>C	ENSP00000341874:p.Arg178Thr		19298580	Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668525	0.88348	.	.	ENSG00000101782	ENST00000339486	T	0.10005	2.92	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	M	0.78049	2.395	0.80722	D	1	P;D;D	0.57899	0.944;0.981;0.968	P;P;B	0.48921	0.476;0.595;0.391	T	0.00621	-1.1640	10	0.72032	D	0.01	-9.2426	20.4745	0.99168	0.0:0.0:1.0:0.0	.	162;178;178	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	T	178	ENSP00000341874:R178T	ENSP00000341874:R178T	R	+	2	0	RIOK3	19298580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.449000	0.97603	2.941000	0.99782	0.655000	0.94253	AGA		0.338	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		C	21044582	G	C	21044582	3	2	150	1	0	0	0	0	1	0	0	0	13382	942	33	3	551	3	RIOK3	18	21044582	Missense_Mutation	SNP	G	TCGA-13-1510-01A-02D-0472-08		21044582	57032666	18	8310											
CDH20	28316	broad.mit.edu	37	18	59157965	59157965	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr18:59157965G>C	ENST00000262717.4	+	2	577	c.179G>C	c.(178-180)aGc>aCc	p.S60T	CDH20_ENST00000538374.1_Missense_Mutation_p.S60T|CDH20_ENST00000536675.2_Missense_Mutation_p.S60T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	60					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S60T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCAAGAGGAGCTGGGTTTGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	18											121	120	121					18																	59157965		2203	4300	6503	57308945	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.179G>C	18.37:g.59157965G>C	ENSP00000262717:p.Ser60Thr		57308945	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240444	0.79912	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.00325	8.1;8.1;8.1	5.27	5.27	0.74061	Cadherin-like (1);	0.043338	0.85682	D	0.000000	T	0.00328	0.0010	N	0.24115	0.695	0.53005	D	0.999964	D	0.54772	0.968	P	0.55260	0.772	D	0.94673	0.7858	10	0.87932	D	0	.	19.2658	0.93984	0.0:0.0:1.0:0.0	.	60	Q9HBT6	CAD20_HUMAN	T	60	ENSP00000444767:S60T;ENSP00000442226:S60T;ENSP00000262717:S60T	ENSP00000262717:S60T	S	+	2	0	CDH20	57308945	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.140000	0.94607	2.620000	0.88729	0.563000	0.77884	AGC		0.512	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		C	59157965	G	C	59157965	3	2	150	1	0	0	0	0	1	0	0	0	3106	971	34	3	181	3	CDH20	18	59157965	Missense_Mutation	SNP	G	TCGA-13-1510-01A-02D-0472-08	38113383	59157965	18919283	19	8311											
C20orf26	26074	broad.mit.edu	37	20	20243721	20243721	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr20:20243721A>T	ENST00000245957.5	+	21	2526	c.2450A>T	c.(2449-2451)gAg>gTg	p.E817V	C20orf26_ENST00000389656.3_Missense_Mutation_p.E173V|C20orf26_ENST00000377309.2_Missense_Mutation_p.E173V|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.E173V	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		817								p.E817V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACGAGGAAGAGGATTGCTTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	20											131	125	127					20																	20243721		2203	4300	6503	20191721	SO:0001583	missense	26074																														ENST00000245957.5:c.2450A>T	20.37:g.20243721A>T	ENSP00000245957:p.Glu817Val		20191721	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	8.710	0.911709	0.17833	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.1	5.1	0.69264	.	0.444680	0.25400	N	0.030952	T	0.33818	0.0876	L	0.36672	1.1	0.37293	D	0.908343	P;P;D	0.57571	0.692;0.682;0.98	B;B;P	0.52424	0.281;0.222;0.698	T	0.12426	-1.0548	10	0.13470	T	0.59	.	15.0607	0.71951	1.0:0.0:0.0:0.0	.	797;173;817	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	V	757;173;173;797;817;173	ENSP00000366524:E173V;ENSP00000374307:E173V;ENSP00000245957:E817V;ENSP00000366508:E173V	ENSP00000245957:E817V	E	+	2	0	C20orf26	20191721	1.000000	0.71417	0.977000	0.42913	0.048000	0.14542	5.189000	0.65098	2.136000	0.66102	0.533000	0.62120	GAG		0.453	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			T	20243721	A	T	20243721	3	4	150	1	0	0	0	0	1	0	0	0	2106	304	11	5	2560	5	C20orf26	20	20243721	Missense_Mutation	SNP	A	TCGA-13-1510-01A-02D-0472-08		20243721	42781799	20	8312											
PHACTR3	116154	broad.mit.edu	37	20	58318189	58318189	+	Missense_Mutation	SNP	G	G	A	rs143288140		TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr20:58318189G>A	ENST00000371015.1	+	2	613	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PHACTR3_ENST00000355648.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R46H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R8H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R8H	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	49						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R49H(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCCGGCGCGTCCTGAATAT	0.567													G|||	1	0.000199681	0	0	5008	,	,		18499	0.001		0	False		,,,				2504	0															3	Substitution - Missense(3)	ovary(1)|lung(1)|large_intestine(1)	20						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	86	95	91		137,23,146,23,23	4.4	0.1	20	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	46/557,8/519,49/560,8/519,8/449	58318189	2,13004	2203	4300	6503	57751584	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.146G>A	20.37:g.58318189G>A	ENSP00000360054:p.Arg49His		57751584	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.84	2.357583	0.41801	0.0	2.33E-4	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.45668	1.58;1.68;0.89;1.27;1.27;1.27;0.89	4.4	4.4	0.53042	.	0.105543	0.64402	D	0.000003	T	0.31857	0.0810	L	0.43152	1.355	0.54753	D	0.999982	B;P;P	0.46395	0.026;0.53;0.877	B;B;B	0.32022	0.016;0.085;0.139	T	0.32348	-0.9910	10	0.48119	T	0.1	-14.0518	15.9499	0.79827	0.0:0.0:1.0:0.0	.	8;49;46	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	H	46;49;8;8;8;8;8	ENSP00000353002:R46H;ENSP00000360054:R49H;ENSP00000379001:R8H;ENSP00000442483:R8H;ENSP00000347866:R8H;ENSP00000378998:R8H;ENSP00000354555:R8H	ENSP00000347866:R8H	R	+	2	0	PHACTR3	57751584	1.000000	0.71417	0.077000	0.20336	0.558000	0.35554	4.878000	0.63093	1.988000	0.58038	0.455000	0.32223	CGT		0.567	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		A	58318189	G	A	58318189	3	1	150	1	0	0	0	0	1	0	0	0	11811	1145	40	1	152	1	PHACTR3	20	58318189	Missense_Mutation	SNP	G	TCGA-13-1510-01A-02D-0472-08	38074468	58318189	4707331	21	8313											
DCAF12L2	340578	broad.mit.edu	37	X	125298656	125298656	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chrX:125298656C>A	ENST00000360028.2	-	1	1278	c.1252G>T	c.(1252-1254)Gtg>Ttg	p.V418L	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.V418L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	418								p.V418L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AAGTAGTTCACCCAGACGTCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											109	111	110					X																	125298656		2203	4300	6503	125126337	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1252G>T	X.37:g.125298656C>A	ENSP00000353128:p.Val418Leu		125126337	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	3.861	-0.029891	0.07543	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.17213	2.29;2.29	4.14	2.36	0.29203	.	0.262289	0.20197	N	0.097188	T	0.10895	0.0266	L	0.44542	1.39	0.29425	N	0.860247	B	0.15719	0.014	B	0.14023	0.01	T	0.30387	-0.9980	10	0.11485	T	0.65	.	3.8079	0.08785	0.0:0.5753:0.1996:0.225	.	418	Q5VW00	DC122_HUMAN	L	418	ENSP00000441489:V418L;ENSP00000353128:V418L	ENSP00000353128:V418L	V	-	1	0	DCAF12L2	125126337	1.000000	0.71417	0.961000	0.40146	0.820000	0.46376	2.620000	0.46410	0.508000	0.28173	-0.990000	0.02549	GTG		0.622	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125298656	C	A	125298656	3	1	150	1	0	0	0	0	1	0	0	0	4265	507	18	3	143	3	DCAF12L2	23	125298656	Missense_Mutation	SNP	C	TCGA-13-1510-01A-02D-0472-08		125298656	29971904	22	8314											
KIAA0467	23334	broad.mit.edu	37	1	43913627	43913627	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:43913627A>T	ENST00000562955.1	+	67	9377	c.9377A>T	c.(9376-9378)gAg>gTg	p.E3126V	SZT2_ENST00000372442.1_Missense_Mutation_p.E2284V|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3183					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.E2284V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGAGAGGCTGAGCGGCACGTT	0.567																																																2	Substitution - Missense(2)	ovary(2)	1											92	87	89					1																	43913627		2203	4300	6503	43686214	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9377A>T	1.37:g.43913627A>T	ENSP00000457168:p.Glu3126Val		43686214	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373054	0.61624	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.69	5.69	0.88448	.	0.046479	0.85682	D	0.000000	T	0.74898	0.3777	L	0.50333	1.59	0.38794	D	0.955042	D;D	0.89917	1.0;1.0	D;D	0.76575	0.97;0.988	T	0.78826	-0.2051	9	0.87932	D	0	.	15.9526	0.79855	1.0:0.0:0.0:0.0	.	3183;3126	Q5T011;Q5T011-5	SZT2_HUMAN;.	V	2284	.	ENSP00000361519:E2284V	E	+	2	0	SZT2	43686214	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.059000	0.76684	2.171000	0.68590	0.460000	0.39030	GAG		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		T	43913627	A	T	43913627	3	4	151	1	0	0	0	0	1	0	0	0	8178	304	11	5	7053	5	KIAA0467	1	43913627	Missense_Mutation	SNP	A	TCGA-13-1512-01A-01W-0545-08		43913627	205336994	1	8315											
NASP	4678	broad.mit.edu	37	1	46081049	46081049	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:46081049A>G	ENST00000350030.3	+	11	2015	c.1928A>G	c.(1927-1929)aAg>aGg	p.K643R	NASP_ENST00000537798.1_Missense_Mutation_p.K579R|NASP_ENST00000402363.3_Missense_Mutation_p.K645R|NASP_ENST00000372052.4_Missense_Mutation_p.K277R|NASP_ENST00000351223.3_Missense_Mutation_p.K304R|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	643	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.K645R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGGAACTAAAGGAACTGCTA	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											100	98	99					1																	46081049		2203	4300	6503	45853636	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1928A>G	1.37:g.46081049A>G	ENSP00000255120:p.Lys643Arg		45853636	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.4|28.4	4.912732|4.912732	0.92178|0.92178	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223|ENST00000531612	D;D;T;D;T;T|.	0.94862|.	-3.54;-3.54;0.83;-3.54;0.68;0.73|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73505|0.73505	0.3595|0.3595	M|M	0.71206|0.71206	2.165|2.165	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.76494|.	0.999;0.998;0.998;0.999|.	D;D;D;D|.	0.85130|.	0.997;0.989;0.993;0.997|.	T|T	0.74070|0.74070	-0.3783|-0.3783	10|5	0.87932|.	D|.	0|.	-16.9385|-16.9385	15.2619|15.2619	0.73631|0.73631	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	579;304;643;645|.	F5H3J2;Q5T626;P49321;P49321-3|.	.;.;NASP_HUMAN;.|.	R|G	579;645;543;240;643;277;304|168	ENSP00000438871:K579R;ENSP00000384529:K645R;ENSP00000432289:K240R;ENSP00000255120:K643R;ENSP00000361122:K277R;ENSP00000255121:K304R|.	ENSP00000345532:K543R|.	K|R	+|+	2|1	0|2	NASP|NASP	45853636|45853636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	5.717000|5.717000	0.68446|0.68446	2.069000|2.069000	0.61940|0.61940	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.423	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		G	46081049	A	G	46081049	3	3	151	1	0	0	0	0	1	0	0	0	10172	72	3	4	2047	4	NASP	1	46081049	Missense_Mutation	SNP	A	TCGA-13-1512-01A-01W-0545-08	2167422	46081049	203169572	2	8316											
ZZZ3	26009	broad.mit.edu	37	1	78097567	78097567	+	Silent	SNP	T	T	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:78097567T>C	ENST00000370801.3	-	5	1948	c.1473A>G	c.(1471-1473)gaA>gaG	p.E491E	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	491					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E491E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CATGATCTGATTCAAAGTAAT	0.368																																																1	Substitution - coding silent(1)	ovary(1)	1											120	113	116					1																	78097567		2203	4300	6503	77870155	SO:0001819	synonymous_variant	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1473A>G	1.37:g.78097567T>C			77870155	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	37	CCDS677.1																																																																																				0.368	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		C	78097567	T	C	78097567	2	2	151	1	0	0	0	0	0	0	0	1	18256	1490	52	4		4	ZZZ3	1	78097567	Silent	SNP	T	TCGA-13-1512-01A-01W-0545-08	32016518	78097567	171153054	3	8317											
IQGAP3	128239	broad.mit.edu	37	1	156507007	156507007	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:156507007G>C	ENST00000361170.2	-	27	3398	c.3388C>G	c.(3388-3390)Ctt>Gtt	p.L1130V	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1130	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.L1130V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGCTAAAAGGAACTTATCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											171	143	153					1																	156507007		2203	4300	6503	154773631	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3388C>G	1.37:g.156507007G>C	ENSP00000354451:p.Leu1130Val		154773631	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.629960	0.67015	.	.	ENSG00000183856	ENST00000361170	T	0.81330	-1.48	4.93	3.0	0.34707	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.147081	0.47093	D	0.000250	T	0.61502	0.2352	M	0.65320	2	0.33717	D	0.616471	B	0.14805	0.011	B	0.22880	0.042	T	0.58183	-0.7681	10	0.72032	D	0.01	-4.407	4.9241	0.13885	0.1876:0.3421:0.4703:0.0	.	1130	Q86VI3	IQGA3_HUMAN	V	1130	ENSP00000354451:L1130V	ENSP00000354451:L1130V	L	-	1	0	IQGAP3	154773631	1.000000	0.71417	0.911000	0.35937	0.934000	0.57294	2.109000	0.41863	0.629000	0.30376	0.561000	0.74099	CTT		0.582	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		C	156507007	G	C	156507007	3	2	151	1	0	0	0	0	1	0	0	0	7816	1000	35	3	1555	3	IQGAP3	1	156507007	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08	78409440	156507007	92743614	4	8318											
F11R	50848	broad.mit.edu	37	1	160990824	160990824	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:160990824G>A	ENST00000368026.6	-	1	314	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	F11R_ENST00000537746.1_Missense_Mutation_p.L14F|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	14					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.L14F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AATATGAAGAGGCACAACAGT	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											141	115	124					1																	160990824		2203	4300	6503	159257448	SO:0001583	missense	50848			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.40C>T	1.37:g.160990824G>A	ENSP00000357005:p.Leu14Phe		159257448	B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466743	0.26335	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746	T;T	0.55413	1.35;0.52	3.94	0.674	0.17946	.	0.645917	0.13829	N	0.359884	T	0.21468	0.0517	L	0.61218	1.895	0.09310	N	1	B;B;B;B	0.17852	0.005;0.024;0.005;0.005	B;B;B;B	0.12837	0.003;0.008;0.003;0.003	T	0.16689	-1.0394	10	0.29301	T	0.29	.	3.1132	0.06365	0.2732:0.2332:0.4936:0.0	.	14;14;14;14	B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	F	14	ENSP00000357005:L14F;ENSP00000440812:L14F	ENSP00000289779:L14F	L	-	1	0	F11R	159257448	0.992000	0.36948	0.141000	0.22245	0.097000	0.18754	1.105000	0.31086	0.327000	0.23409	0.462000	0.41574	CTC		0.587	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		A	160990824	G	A	160990824	3	1	151	1	0	0	0	0	1	0	0	0	5338	1000	35	2	899	2	F11R	1	160990824	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08	4483817	160990824	88259797	5	8319											
TNN	63923	broad.mit.edu	37	1	175049321	175049321	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:175049321G>C	ENST00000239462.4	+	4	920	c.807G>C	c.(805-807)caG>caC	p.Q269H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	269	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.Q269H(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGGCCTGCAGCTGCTCAAGA	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											49	51	50					1																	175049321		2203	4300	6503	173315944	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.807G>C	1.37:g.175049321G>C	ENSP00000239462:p.Gln269His		173315944	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845854	0.51164	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57107	0.42	5.58	4.66	0.58398	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.247483	0.43260	D	0.000592	T	0.58538	0.2129	L	0.46157	1.445	0.27478	N	0.95266	D;D	0.58970	0.984;0.984	P;P	0.62491	0.852;0.903	T	0.51911	-0.8645	10	0.41790	T	0.15	.	8.2727	0.31853	0.0743:0.0:0.6691:0.2566	.	269;269	B3KXB6;Q9UQP3	.;TENN_HUMAN	H	269	ENSP00000239462:Q269H	ENSP00000239462:Q269H	Q	+	3	2	TNN	173315944	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.581000	0.36558	2.621000	0.88768	0.650000	0.86243	CAG		0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		C	175049321	G	C	175049321	3	2	151	1	0	0	0	0	1	0	0	0	16323	962	34	3	817	3	TNN	1	175049321	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08	14058497	175049321	74201300	6	8320											
LHX4	89884	broad.mit.edu	37	1	180241140	180241140	+	Splice_Site	SNP	A	A	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:180241140A>T	ENST00000263726.2	+	5	1021	c.777A>T	c.(775-777)cgA>cgT	p.R259R	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	259					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R259R(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGAGCTTCCGAGGTGAGCAGG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	1											53	62	59					1																	180241140		2203	4300	6503	178507763	SO:0001630	splice_region_variant	89884			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.778+1A>T	1.37:g.180241140A>T			178507763	Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	CCDS1338.1																																																																																				0.587	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343	Silent	T	180241140	A	T	180241140	5	4	151	1	0	0	0	0	0	0	1	0	8773	318	11	5	795	5	LHX4	1	180241140	Splice_Site	SNP	A	TCGA-13-1512-01A-01W-0545-08	5191819	180241140	69009481	7	8321											
TTC13	79573	broad.mit.edu	37	1	231060661	231060661	+	Silent	SNP	C	C	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:231060661C>T	ENST00000366661.4	-	14	1654	c.1647G>A	c.(1645-1647)tcG>tcA	p.S549S	TTC13_ENST00000414259.1_Silent_p.S496S|TTC13_ENST00000366662.4_Silent_p.S496S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	549								p.S549S(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTCGAACTTTCGAGTTGGTCC	0.438																																																1	Substitution - coding silent(1)	ovary(1)	1											211	172	185					1																	231060661		2203	4300	6503	229127284	SO:0001819	synonymous_variant	79573				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1647G>A	1.37:g.231060661C>T			229127284	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	CCDS1588.1																																																																																				0.438	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		T	231060661	C	T	231060661	2	4	151	1	0	0	0	0	0	0	0	1	16680	871	31	1		1	TTC13	1	231060661	Silent	SNP	C	TCGA-13-1512-01A-01W-0545-08	50819521	231060661	18189960	8	8322											
TRIM67	440730	broad.mit.edu	37	1	231351152	231351152	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:231351152C>A	ENST00000366653.5	+	10	2318	c.2318C>A	c.(2317-2319)aCt>aAt	p.T773N	TRIM67_ENST00000444294.3_Missense_Mutation_p.T771N|TRIM67_ENST00000449018.3_Missense_Mutation_p.T711N|TRIM67_ENST00000366652.2_Intron			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	773	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GAAGTGCCGACTAACCTGGGG	0.597																																																0			1											40	46	44					1																	231351152		2119	4240	6359	229417775	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2318C>A	1.37:g.231351152C>A	ENSP00000355613:p.Thr773Asn		229417775	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898677	0.33535	.	.	ENSG00000119283	ENST00000444294;ENST00000449018;ENST00000366653	T;T;T	0.69685	-0.41;-0.34;-0.42	4.89	3.97	0.46021	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.44540	0.1298	N	0.14661	0.345	0.42793	D	0.993902	B	0.23650	0.089	B	0.24848	0.056	T	0.45041	-0.9288	9	0.39692	T	0.17	.	4.3159	0.10993	0.2492:0.5777:0.0:0.1731	.	773	Q6ZTA4	TRI67_HUMAN	N	771;711;773	ENSP00000412124:T771N;ENSP00000400163:T711N;ENSP00000355613:T773N	ENSP00000355613:T773N	T	+	2	0	TRIM67	229417775	0.822000	0.29219	0.986000	0.45419	0.943000	0.58893	1.507000	0.35758	2.688000	0.91661	0.557000	0.71058	ACT		0.597	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		A	231351152	C	A	231351152	3	1	151	1	0	0	0	0	1	0	0	0	16540	565	20	3	2356	3	TRIM67	1	231351152	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08	290491	231351152	17899469	9	8323											
ZNF238	10472	broad.mit.edu	37	1	244217893	244217893	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr1:244217893G>A	ENST00000358704.4	+	2	966	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	264					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V264M(1)									TTCACAGGACGTGCTGAGAAG	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											69	76	73					1																	244217893		2203	4300	6503	242284516	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.817G>A	1.37:g.244217893G>A	ENSP00000351539:p.Val273Met		242284516	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	6.065	0.380392	0.11466	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.11604	2.76	5.2	5.2	0.72013	.	0.243896	0.40385	N	0.001104	T	0.05640	0.0148	N	0.14661	0.345	0.33691	D	0.613322	B;P	0.35959	0.396;0.53	B;B	0.33690	0.081;0.168	T	0.20306	-1.0279	10	0.31617	T	0.26	.	6.2271	0.20714	0.2135:0.0:0.7865:0.0	.	264;273	Q99592;Q99592-2	ZN238_HUMAN;.	M	273	ENSP00000351539:V273M	ENSP00000351539:V273M	V	+	1	0	ZNF238	242284516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.945000	0.49043	2.718000	0.92993	0.650000	0.86243	GTG		0.483	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		A	244217893	G	A	244217893	3	1	151	1	0	0	0	0	1	0	0	0	17790	1145	40	1	823	1	ZNF238	1	244217893	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08	12866741	244217893	5032728	10	8324											
SCN3A	6328	broad.mit.edu	37	2	165947802	165947802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr2:165947802G>A	ENST00000360093.3	-	28	5352	c.4861C>T	c.(4861-4863)Cga>Tga	p.R1621*	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R1621*|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R1572*|SCN3A_ENST00000540861.1_Nonsense_Mutation_p.R104*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1621					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1621*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGGATCACTCGGAACAAGGTA	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	2											109	112	111					2																	165947802		2203	4300	6503	165656048	SO:0001587	stop_gained	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4861C>T	2.37:g.165947802G>A	ENSP00000353206:p.Arg1621*		165656048	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	45	11.651583	0.99587	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	.	.	.	6.07	6.07	0.98685	.	0.000000	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5344	0.67950	0.0:0.0:0.7423:0.2577	.	.	.	.	X	1621;1621;1572;104	.	ENSP00000283254:R1621X	R	-	1	2	SCN3A	165656048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.659000	0.37387	2.890000	0.99128	0.585000	0.79938	CGA		0.448	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		A	165947802	G	A	165947802	4	1	151	1	0	0	0	0	0	1	0	0	13921	1124	39	1	1145	1	SCN3A	2	165947802	Nonsense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08		165947802	77251571	11	8325											
TMEM198	130612	broad.mit.edu	37	2	220412398	220412398	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr2:220412398G>T	ENST00000344458.2	+	4	922	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.V113L|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	113	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V113L(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCCATGCTAGTGCGCAGCGT	0.697																																																2	Substitution - Missense(2)	ovary(2)	2											62	62	62					2																	220412398		2202	4298	6500	220120642	SO:0001583	missense	130612			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.337G>T	2.37:g.220412398G>T	ENSP00000343507:p.Val113Leu		220120642		Missense_Mutation	SNP	ENST00000344458.2	37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275793	0.80580	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.058591	0.64402	D	0.000002	T	0.77644	0.4161	M	0.75447	2.3	0.54753	D	0.999985	D	0.63046	0.992	D	0.76071	0.987	T	0.77595	-0.2529	9	0.35671	T	0.21	-20.3095	16.3706	0.83357	0.0:0.0:1.0:0.0	.	113	Q66K66	TM198_HUMAN	L	113	.	ENSP00000343507:V113L	V	+	1	0	TMEM198	220120642	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.472000	0.97709	2.253000	0.74438	0.591000	0.81541	GTG		0.697	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		T	220412398	G	T	220412398	3	4	151	1	0	0	0	0	1	0	0	0	16119	1029	36	3	343	3	TMEM198	2	220412398	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08	54464596	220412398	22786975	12	8326											
NUP210	23225	broad.mit.edu	37	3	13378308	13378308	+	Silent	SNP	G	G	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr3:13378308G>A	ENST00000254508.5	-	27	3745	c.3663C>T	c.(3661-3663)gaC>gaT	p.D1221D	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1221					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.D1221D(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCCTCGGAGGTCCAGGACGT	0.647																																																1	Substitution - coding silent(1)	ovary(1)	3											84	72	76					3																	13378308		2203	4300	6503	13353308	SO:0001819	synonymous_variant	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3663C>T	3.37:g.13378308G>A			13353308	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																				0.647	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13378308	G	A	13378308	2	1	151	1	0	0	0	0	0	0	0	1	10760	1252	44	2		2	NUP210	3	13378308	Silent	SNP	G	TCGA-13-1512-01A-01W-0545-08		13378308	184644122	13	8327											
TM4SF18	116441	broad.mit.edu	37	3	149042743	149042743	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr3:149042743C>T	ENST00000296059.2	-	4	599	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	TM4SF18_ENST00000470080.1_Missense_Mutation_p.A112T|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	112						integral component of membrane (GO:0016021)		p.A112T(1)		lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGACCCAAGGCAGAGATGACC	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											87	82	84					3																	149042743		2203	4300	6503	150525433	SO:0001583	missense	116441			BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.334G>A	3.37:g.149042743C>T	ENSP00000296059:p.Ala112Thr		150525433	B2R8K0|D3DNH5	Missense_Mutation	SNP	ENST00000296059.2	37	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511378	0.44660	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.33865	1.39;1.39;1.39	5.8	4.93	0.64822	.	0.184598	0.48286	D	0.000199	T	0.30916	0.0780	L	0.49640	1.575	0.09310	N	1	B	0.06786	0.001	B	0.14578	0.011	T	0.20042	-1.0287	10	0.40728	T	0.16	-12.5648	8.1544	0.31160	0.0:0.7877:0.0:0.2123	.	112	Q96CE8	T4S18_HUMAN	T	112	ENSP00000296059:A112T;ENSP00000419278:A112T;ENSP00000418372:A112T	ENSP00000296059:A112T	A	-	1	0	TM4SF18	150525433	0.997000	0.39634	0.220000	0.23810	0.973000	0.67179	1.992000	0.40737	1.457000	0.47850	0.655000	0.94253	GCC		0.453	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		T	149042743	C	T	149042743	3	4	151	1	0	0	0	0	1	0	0	0	15967	710	25	2	283	2	TM4SF18	3	149042743	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08	135664435	149042743	48979687	14	8328											
PIK3CA	5290	broad.mit.edu	37	3	178942593	178942593	+	Silent	SNP	C	C	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr3:178942593C>A	ENST00000263967.3	+	16	2557	c.2400C>A	c.(2398-2400)atC>atA	p.I800I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	800	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.I800I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGAGATCATCTTTAAAAATG	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1	Substitution - coding silent(1)	ovary(1)	3											144	133	137					3																	178942593		1856	4093	5949	180425287	SO:0001819	synonymous_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2400C>A	3.37:g.178942593C>A			180425287	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178942593	C	A	178942593	2	1	151	1	0	0	0	0	0	0	0	1	11913	903	32	3		3	PIK3CA	3	178942593	Silent	SNP	C	TCGA-13-1512-01A-01W-0545-08	29899850	178942593	19079837	15	8329											
TACC3	10460	broad.mit.edu	37	4	1729572	1729572	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr4:1729572C>T	ENST00000313288.4	+	4	549	c.443C>T	c.(442-444)gCc>gTc	p.A148V		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	148					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A148V(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGCCCAGGTGCCCTGGCTGAC	0.592																																					Ovarian(120;482 2294 11894 35824)											1	Substitution - Missense(1)	ovary(1)	4											89	102	98					4																	1729572		2203	4299	6502	1699370	SO:0001583	missense	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.443C>T	4.37:g.1729572C>T	ENSP00000326550:p.Ala148Val		1699370	Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975360	0.53720	.	.	ENSG00000013810	ENST00000313288;ENST00000493975;ENST00000458173	T;T;T	0.44482	2.93;0.92;0.92	3.91	-5.63	0.02474	.	2.299200	0.02558	N	0.096395	T	0.25005	0.0607	L	0.36672	1.1	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.16289	0.015;0.002	T	0.08391	-1.0724	10	0.17832	T	0.49	1.7871	0.3812	0.00395	0.3749:0.1403:0.2264:0.2584	.	148;148	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	V	148	ENSP00000326550:A148V;ENSP00000418095:A148V;ENSP00000415914:A148V	ENSP00000326550:A148V	A	+	2	0	TACC3	1699370	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.894000	0.04123	-0.885000	0.03971	-0.251000	0.11542	GCC		0.592	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			T	1729572	C	T	1729572	3	4	151	1	0	0	0	0	1	0	0	0	15503	739	26	2	453	2	TACC3	4	1729572	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08		1729572	189424704	16	8330											
SFRP2	6423	broad.mit.edu	37	4	154702675	154702675	+	Silent	SNP	C	C	G			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr4:154702675C>G	ENST00000274063.4	-	3	1100	c.816G>C	c.(814-816)tcG>tcC	p.S272S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	272	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S272S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				ACCGCTTCACCGAGGTGATCA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	4											133	101	111					4																	154702675		2203	4300	6503	154922125	SO:0001819	synonymous_variant	6423			AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.816G>C	4.37:g.154702675C>G			154922125	B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	CCDS34082.1																																																																																				0.592	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			G	154702675	C	G	154702675	2	3	151	1	0	0	0	0	0	0	0	1	14165	639	23	3		3	SFRP2	4	154702675	Silent	SNP	C	TCGA-13-1512-01A-01W-0545-08	152973103	154702675	36451601	17	8331											
CEP120	153241	broad.mit.edu	37	5	122724242	122724242	+	Silent	SNP	T	T	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr5:122724242T>C	ENST00000306467.5	-	9	1618	c.1314A>G	c.(1312-1314)gaA>gaG	p.E438E	CEP120_ENST00000328236.5_Silent_p.E438E|CEP120_ENST00000306481.6_Silent_p.E412E			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	438					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E438E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CTGAAGCTACTTCTGAAGCAT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	5											183	171	175					5																	122724242		1868	4101	5969	122752141	SO:0001819	synonymous_variant	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1314A>G	5.37:g.122724242T>C			122752141	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Silent	SNP	ENST00000306467.5	37	CCDS4134.2																																																																																				0.388	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		C	122724242	T	C	122724242	2	2	151	1	0	0	0	0	0	0	0	1	3246	1606	56	4		4	CEP120	5	122724242	Silent	SNP	T	TCGA-13-1512-01A-01W-0545-08		122724242	58191018	18	8332											
SEPT8	23176	broad.mit.edu	37	5	132096666	132096666	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr5:132096666G>T	ENST00000378719.2	-	9	1351	c.1114C>A	c.(1114-1116)Cac>Aac	p.H372N	SEPT8_ENST00000378706.1_Missense_Mutation_p.H372N|SEPT8_ENST00000378721.4_Missense_Mutation_p.H370N|SEPT8_ENST00000296873.7_Missense_Mutation_p.H372N|SEPT8_ENST00000378699.2_Missense_Mutation_p.H312N|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378701.1_Missense_Mutation_p.H370N|SEPT8_ENST00000458488.2_Missense_Mutation_p.H372N|SEPT8_ENST00000448933.1_Missense_Mutation_p.H312N	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	372					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.H372N(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCTTCAGGTGCTCAAACTTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	5											81	85	84					5																	132096666		1985	4146	6131	132124565	SO:0001583	missense	23176			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.1114C>A	5.37:g.132096666G>T	ENSP00000367991:p.His372Asn		132124565	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717061	0.48622	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.34	3.47	0.39725	.	0.113488	0.64402	D	0.000008	T	0.73659	0.3615	L	0.29908	0.895	0.39396	D	0.966504	B;B;B;B	0.29571	0.016;0.033;0.249;0.058	B;B;B;B	0.25614	0.009;0.013;0.062;0.03	T	0.73936	-0.3825	10	0.49607	T	0.09	.	14.3863	0.66947	0.0:0.0:0.7314:0.2686	.	370;370;372;372	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	N	372;370;372;312;372;312;370;372	ENSP00000367991:H372N;ENSP00000367993:H370N;ENSP00000296873:H372N;ENSP00000399840:H312N;ENSP00000367978:H372N;ENSP00000367971:H312N;ENSP00000367973:H370N;ENSP00000394766:H372N	ENSP00000296873:H372N	H	-	1	0	SEPT8	132124565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.807000	0.86032	1.233000	0.43693	0.655000	0.94253	CAC		0.622	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		T	132096666	G	T	132096666	3	4	151	1	0	0	0	0	1	0	0	0	14073	1319	46	3	400	3	SEPT8	5	132096666	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08	9372424	132096666	48818594	19	8333											
CCDC69	26112	broad.mit.edu	37	5	150585025	150585025	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr5:150585025T>A	ENST00000355417.2	-	2	234	c.60A>T	c.(58-60)gaA>gaT	p.E20D	CCDC69_ENST00000521308.1_Intron	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	20								p.E20D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGTTCTGGTTCTTGGCGCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	5											171	154	160					5																	150585025		2203	4300	6503	150565218	SO:0001583	missense	26112				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.60A>T	5.37:g.150585025T>A	ENSP00000347586:p.Glu20Asp		150565218	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.273397	0.40194	.	.	ENSG00000198624	ENST00000355417	T	0.23950	1.88	4.32	-0.767	0.11016	.	1.077990	0.07209	N	0.858869	T	0.11922	0.0290	N	0.08118	0	0.18873	N	0.999987	B	0.34290	0.447	B	0.30105	0.111	T	0.26573	-1.0099	10	0.49607	T	0.09	-1.8048	7.143	0.25566	0.0:0.5028:0.0:0.4972	.	20	A6NI79	CCD69_HUMAN	D	20	ENSP00000347586:E20D	ENSP00000347586:E20D	E	-	3	2	CCDC69	150565218	0.764000	0.28473	0.864000	0.33941	0.796000	0.44982	0.144000	0.16135	-0.037000	0.13646	-0.388000	0.06559	GAA		0.572	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		A	150585025	T	A	150585025	3	1	151	1	0	0	0	0	1	0	0	0	2841	1722	60	5	862	5	CCDC69	5	150585025	Missense_Mutation	SNP	T	TCGA-13-1512-01A-01W-0545-08	18488359	150585025	30330235	20	8334											
ERVFRDE1	405754	broad.mit.edu	37	6	11105465	11105465	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr6:11105465T>C	ENST00000472091.1	-	2	454	c.79A>G	c.(79-81)Aaa>Gaa	p.K27E	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.K27E	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	27					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.K27E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TGCTGAGCTTTTTCCAATAAC	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											59	60	59					6																	11105465		2203	4300	6503	11213451	SO:0001583	missense	405754			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.79A>G	6.37:g.11105465T>C	ENSP00000420174:p.Lys27Glu		11213451		Missense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386946	0.42308	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.15372	2.43;2.43	0.235	0.235	0.15431	.	.	.	.	.	T	0.02267	0.0070	N	0.14661	0.345	0.19575	N	0.999966	P	0.38110	0.618	B	0.25759	0.063	T	0.39482	-0.9612	8	0.62326	D	0.03	.	.	.	.	.	27	P60508	EFRD1_HUMAN	E	27	ENSP00000420174:K27E;ENSP00000444461:K27E	ENSP00000420174:K27E	K	-	1	0	ERVFRD-1	11213451	0.763000	0.28462	0.735000	0.30896	0.740000	0.42216	0.310000	0.19356	0.263000	0.21812	0.260000	0.18958	AAA		0.507	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		C	11105465	T	C	11105465	3	2	151	1	0	0	0	0	1	0	0	0	5246	1850	64	4	1541	4	ERVFRDE1	6	11105465	Missense_Mutation	SNP	T	TCGA-13-1512-01A-01W-0545-08		11105465	160009602	21	8335											
TRIM26	7726	broad.mit.edu	37	6	30164385	30164385	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr6:30164385T>G	ENST00000454678.2	-	6	1109	c.673A>C	c.(673-675)Aag>Cag	p.K225Q	TRIM26_ENST00000437089.1_Missense_Mutation_p.K225Q|TRIM26_ENST00000453195.1_Missense_Mutation_p.K225Q|TRIM26_ENST00000487829.1_5'Flank	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	225					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.K225Q(1)		lung(1)|ovary(2)	3						CCCCGGCTCTTGAACTTCTCC	0.647																																																1	Substitution - Missense(1)	ovary(1)	6											39	40	39					6																	30164385		2203	4300	6503	30272364	SO:0001583	missense	7726			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.673A>C	6.37:g.30164385T>G	ENSP00000410446:p.Lys225Gln		30272364	A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	T	8.496	0.863203	0.17250	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345	T;T;T;T	0.70631	3.75;3.75;3.75;-0.5	5.62	3.22	0.36961	.	0.812496	0.10595	N	0.656344	T	0.33059	0.0850	L	0.44542	1.39	0.09310	N	1	B	0.25441	0.126	B	0.15484	0.013	T	0.17531	-1.0366	10	0.11794	T	0.64	.	5.1998	0.15258	0.0:0.0906:0.1829:0.7265	.	225	Q12899	TRI26_HUMAN	Q	225;225;225;225;150	ENSP00000391879:K225Q;ENSP00000410446:K225Q;ENSP00000395491:K225Q;ENSP00000413673:K225Q	ENSP00000413673:K225Q	K	-	1	0	TRIM26	30272364	0.000000	0.05858	0.030000	0.17652	0.746000	0.42486	-0.176000	0.09811	0.949000	0.37715	0.467000	0.42956	AAG		0.647	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		G	30164385	T	G	30164385	3	3	151	1	0	0	0	0	1	0	0	0	16500	1821	63	5	966	5	TRIM26	6	30164385	Missense_Mutation	SNP	T	TCGA-13-1512-01A-01W-0545-08	19058920	30164385	140950682	22	8336											
RUNX2	860	broad.mit.edu	37	6	45480092	45480092	+	Silent	SNP	C	C	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr6:45480092C>A	ENST00000371438.1	+	6	1327	c.969C>A	c.(967-969)tcC>tcA	p.S323S	RUNX2_ENST00000371432.3_Silent_p.S309S|RUNX2_ENST00000541979.1_Silent_p.S391S|RUNX2_ENST00000352853.5_Silent_p.S391S|RUNX2_ENST00000465038.2_Silent_p.S323S|RUNX2_ENST00000576263.1_Silent_p.S323S|RUNX2_ENST00000359524.5_Silent_p.S309S|RUNX2_ENST00000371436.6_Silent_p.S323S	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	323	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S323S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGCTGTCTTCCACACGGGGCA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	6											120	98	105					6																	45480092		2203	4300	6503	45588070	SO:0001819	synonymous_variant	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.969C>A	6.37:g.45480092C>A			45588070	O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	CCDS43467.2																																																																																				0.587	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45480092	C	A	45480092	2	1	151	1	0	0	0	0	0	0	0	1	13751	581	21	3		3	RUNX2	6	45480092	Silent	SNP	C	TCGA-13-1512-01A-01W-0545-08	15315707	45480092	125634975	23	8337											
THSD7A	221981	broad.mit.edu	37	7	11676209	11676209	+	Silent	SNP	A	A	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr7:11676209A>C	ENST00000423059.4	-	2	821	c.570T>G	c.(568-570)ccT>ccG	p.P190P	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	190					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P190P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTGCTGGCAAGGAATGAGGC	0.557										HNSCC(18;0.044)																																						1	Substitution - coding silent(1)	ovary(1)	7											71	68	69					7																	11676209		2004	4184	6188	11642734	SO:0001819	synonymous_variant	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.570T>G	7.37:g.11676209A>C			11642734		Silent	SNP	ENST00000423059.4	37	CCDS47543.1																																																																																				0.557	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		C	11676209	A	C	11676209	2	2	151	1	0	0	0	0	0	0	0	1	15879	59	3	5		5	THSD7A	7	11676209	Silent	SNP	A	TCGA-13-1512-01A-01W-0545-08		11676209	147462454	24	8338											
NT5C3	51251	broad.mit.edu	37	7	33057184	33057184	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr7:33057184A>T	ENST00000242210.7	-	7	651	c.575T>A	c.(574-576)cTc>cAc	p.L192H	NT5C3A_ENST00000381626.2_Missense_Mutation_p.L141H|NT5C3A_ENST00000409787.1_Missense_Mutation_p.L153H|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000610140.1_Missense_Mutation_p.L187H|NT5C3A_ENST00000396152.2_Missense_Mutation_p.L153H|NT5C3A_ENST00000409467.1_Missense_Mutation_p.L141H|NT5C3A_ENST00000405342.1_Missense_Mutation_p.L153H	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	192					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.L192H(1)									ATGTTGTTGGAGCTTATCAAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	7											142	138	140					7																	33057184		2203	4300	6503	33023709	SO:0001583	missense	51251			AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"lupin"	606224	"5'-nucleotidase, cytosolic III"	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.575T>A	7.37:g.33057184A>T	ENSP00000242210:p.Leu192His		33023709	A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091900	0.76756	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.19	4.04	0.47022	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94670	0.8281	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94576	0.7775	10	0.87932	D	0	.	10.9177	0.47146	0.9262:0.0:0.0738:0.0	.	192;153	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	H	141;153;192;153;141;153	ENSP00000371039:L141H;ENSP00000379456:L153H;ENSP00000242210:L192H;ENSP00000385261:L153H;ENSP00000387166:L141H;ENSP00000387205:L153H	ENSP00000242210:L192H	L	-	2	0	NT5C3	33023709	1.000000	0.71417	0.811000	0.32455	0.876000	0.50452	9.288000	0.96055	0.816000	0.34421	0.533000	0.62120	CTC		0.368	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		T	33057184	A	T	33057184	3	4	151	1	0	0	0	0	1	0	0	0	10688	304	11	5	447	5	NT5C3	7	33057184	Missense_Mutation	SNP	A	TCGA-13-1512-01A-01W-0545-08	21380975	33057184	126081479	25	8339											
PEX1	5189	broad.mit.edu	37	7	92147160	92147160	+	Silent	SNP	C	C	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr7:92147160C>T	ENST00000248633.4	-	5	764	c.669G>A	c.(667-669)gtG>gtA	p.V223V	PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000428214.1_Silent_p.V223V|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	223					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.V223V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAGTGATTCCCACAGTATTTG	0.353																																																1	Substitution - coding silent(1)	ovary(1)	7											89	88	89					7																	92147160		2203	4300	6503	91985096	SO:0001819	synonymous_variant	5189			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.669G>A	7.37:g.92147160C>T			91985096	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		T	92147160	C	T	92147160	2	4	151	1	0	0	0	0	0	0	0	1	11735	581	21	2		2	PEX1	7	92147160	Silent	SNP	C	TCGA-13-1512-01A-01W-0545-08	59089976	92147160	66991503	26	8340											
CCDC132	55610	broad.mit.edu	37	7	92926064	92926064	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr7:92926064T>G	ENST00000305866.5	+	15	1306	c.1178T>G	c.(1177-1179)cTa>cGa	p.L393R	CCDC132_ENST00000317751.6_Missense_Mutation_p.L124R|CCDC132_ENST00000544910.1_Missense_Mutation_p.L363R|CCDC132_ENST00000541136.1_Missense_Mutation_p.L204R|CCDC132_ENST00000535481.1_Missense_Mutation_p.L113R	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	393						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L393R(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATGTTCAGCTAAAAGTAAAA	0.289																																																1	Substitution - Missense(1)	ovary(1)	7											85	81	82					7																	92926064		1795	4064	5859	92764000	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1178T>G	7.37:g.92926064T>G	ENSP00000307666:p.Leu393Arg		92764000	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.892|8.892	0.954249|0.954249	0.18431|0.18431	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.39592|.	1.07|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|.	0.51736|.	0.1692|.	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999997|0.999997	P;P;P|.	0.43701|.	0.808;0.815;0.808|.	B;B;B|.	0.37387|.	0.222;0.248;0.222|.	T|.	0.48811|.	-0.9002|.	10|.	0.46703|.	T|.	0.11|.	-14.6567|-14.6567	14.9369|14.9369	0.70964|0.70964	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	113;363;393|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	R|E	393;363;204;113;124|180	ENSP00000325582:L124R|.	ENSP00000307666:L393R|.	L|X	+|+	2|1	0|0	CCDC132|CCDC132	92764000|92764000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.022000|6.022000	0.70839|0.70839	2.006000|2.006000	0.58801|0.58801	0.528000|0.528000	0.53228|0.53228	CTA|TAA		0.289	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		G	92926064	T	G	92926064	3	3	151	1	0	0	0	0	1	0	0	0	2767	1522	53	5	1278	5	CCDC132	7	92926064	Missense_Mutation	SNP	T	TCGA-13-1512-01A-01W-0545-08	778904	92926064	66212599	27	8341											
SCARA3	51435	broad.mit.edu	37	8	27528615	27528615	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr8:27528615G>C	ENST00000301904.3	+	6	1588	c.1568G>C	c.(1567-1569)gGc>gCc	p.G523A	SCARA3_ENST00000337221.4_Intron	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	523					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)	p.G523A(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCCTCAAAGGCTCAAAGGGC	0.697																																																1	Substitution - Missense(1)	ovary(1)	8											10	12	11					8																	27528615		2193	4270	6463	27584534	SO:0001583	missense	51435			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"macrophage scavenger receptor-like 1"	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1568G>C	8.37:g.27528615G>C	ENSP00000301904:p.Gly523Ala		27584534	Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815665	0.70912	.	.	ENSG00000168077	ENST00000301904	D	0.98234	-4.81	5.72	5.72	0.89469	.	0.054609	0.64402	D	0.000001	D	0.99223	0.9730	H	0.96048	3.76	0.58432	D	0.999998	D	0.62365	0.991	P	0.61070	0.883	D	0.99123	1.0850	10	0.87932	D	0	-25.5726	17.366	0.87364	0.0:0.0:1.0:0.0	.	523	Q6AZY7	SCAR3_HUMAN	A	523	ENSP00000301904:G523A	ENSP00000301904:G523A	G	+	2	0	SCARA3	27584534	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.178000	0.94855	2.700000	0.92200	0.561000	0.74099	GGC		0.697	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		C	27528615	G	C	27528615	3	2	151	1	0	0	0	0	1	0	0	0	13882	1203	42	3	1590	3	SCARA3	8	27528615	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08		27528615	118835407	28	8342											
BAG4	9530	broad.mit.edu	37	8	38067870	38067870	+	Silent	SNP	T	T	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr8:38067870T>A	ENST00000287322.4	+	5	1504	c.1233T>A	c.(1231-1233)ctT>ctA	p.L411L	BAG4_ENST00000432471.2_Silent_p.L375L	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	411	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.L411L(1)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CATACTGGCTTCTGGAAGAAA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	8											38	42	41					8																	38067870		2202	4300	6502	38187027	SO:0001819	synonymous_variant	9530			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"silencer of death domains"	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1233T>A	8.37:g.38067870T>A			38187027	B4E217|O95818	Silent	SNP	ENST00000287322.4	37	CCDS6104.1																																																																																				0.418	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		A	38067870	T	A	38067870	2	1	151	1	0	0	0	0	0	0	0	1	1289	1770	62	5		5	BAG4	8	38067870	Silent	SNP	T	TCGA-13-1512-01A-01W-0545-08	10539255	38067870	108296152	29	8343											
NAPRT1	642475	broad.mit.edu	37	8	144657403	144657403	+	5'Flank	SNP	G	G	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr8:144657403G>C	ENST00000398882.3	-	0	0				RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000276844.7_Silent_p.A468A|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Silent_p.A468A|NAPRT1_ENST00000435154.3_Silent_p.A468A|NAPRT1_ENST00000449291.2_Silent_p.A468A	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6									p.A444A(1)									GCTCCACCTGGGCTGGCCTCA	0.687																																																1	Substitution - coding silent(1)	ovary(1)	8											22	23	23					8																	144657403		2196	4297	6493	144728546	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657403G>C	Exception_encountered		144728546	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																				0.687	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		C	144657403	G	C	144657403	1	2	151	0	1	0	0	0	0	0	0	0	10165	1219	43	3		3	NAPRT1	8	144657403	5'Flank	SNP	G	TCGA-13-1512-01A-01W-0545-08	106589533	144657403	1706619	30	8344											
C9orf41	138199	broad.mit.edu	37	9	77631295	77631295	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr9:77631295G>A	ENST00000376834.3	-	3	631	c.479C>T	c.(478-480)tCc>tTc	p.S160F	C9orf41_ENST00000376837.3_Missense_Mutation_p.S160F|RP11-197P3.5_ENST00000455336.2_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	160								p.S160F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TTTCAGCGTGGATTTTAACTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	9											183	187	186					9																	77631295		2203	4300	6503	76821115	SO:0001583	missense	138199			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.479C>T	9.37:g.77631295G>A	ENSP00000366030:p.Ser160Phe		76821115	Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386265	0.82902	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153	T;T	0.04119	3.7;3.7	5.75	5.75	0.90469	N2227-like (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09596	-1.0667	10	0.66056	D	0.02	-11.004	19.9522	0.97203	0.0:0.0:1.0:0.0	.	160	Q8N4J0	CI041_HUMAN	F	160;160;99	ENSP00000366030:S160F;ENSP00000396353:S99F	ENSP00000366030:S160F	S	-	2	0	C9orf41	76821115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.725000	0.93324	0.655000	0.94253	TCC		0.368	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		A	77631295	G	A	77631295	3	1	151	1	0	0	0	0	1	0	0	0	2482	1174	41	2	774	2	C9orf41	9	77631295	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08		77631295	63582136	31	8345											
COL5A1	1289	broad.mit.edu	37	9	137717652	137717652	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr9:137717652G>A	ENST00000371817.3	+	63	5383	c.4969G>A	c.(4969-4971)Gat>Aat	p.D1657N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1657	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.D1657N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATACTGGGTCGATCCTAACCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	9											72	64	67					9																	137717652		2203	4300	6503	136857473	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4969G>A	9.37:g.137717652G>A	ENSP00000360882:p.Asp1657Asn		136857473	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.124433|4.124433	0.77436|0.77436	.|.	.|.	ENSG00000130635|ENSG00000130635	ENST00000371817;ENST00000355306|ENST00000371820	D|.	0.86030|.	-2.06|.	4.05|4.05	4.05|4.05	0.47172|0.47172	Fibrillar collagen, C-terminal (3);|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.85660|0.85660	0.5748|0.5748	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	D|D	0.90412|0.90412	0.4410|0.4410	10|5	0.87932|.	D|.	0|.	.|.	16.3981|16.3981	0.83630|0.83630	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1657|.	P20908|.	CO5A1_HUMAN|.	N|Q	1657;194|76	ENSP00000360882:D1657N|.	ENSP00000347458:D194N|.	D|R	+|+	1|2	0|0	COL5A1|COL5A1	136857473|136857473	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.974000|0.974000	0.67602|0.67602	9.694000|9.694000	0.98686|0.98686	1.851000|1.851000	0.53745|0.53745	0.280000|0.280000	0.19369|0.19369	GAT|CGA		0.552	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137717652	G	A	137717652	3	1	151	1	0	0	0	0	1	0	0	0	3696	1058	37	1	5219	1	COL5A1	9	137717652	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08	60086357	137717652	3495779	32	8346											
ZFYVE27	118813	broad.mit.edu	37	10	99510142	99510142	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr10:99510142A>G	ENST00000393677.4	+	7	923	c.719A>G	c.(718-720)gAg>gGg	p.E240G	ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E208G|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.E142G|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E122G|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E240G|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E240G|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E154G|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E240G	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	240					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)	p.E240G(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		AAGCAGGAAGAGCATGCCTTT	0.552																																																1	Substitution - Missense(1)	ovary(1)	10											129	101	111					10																	99510142		2203	4300	6503	99500132	SO:0001583	missense	118813			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.719A>G	10.37:g.99510142A>G	ENSP00000377282:p.Glu240Gly		99500132	B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.137730	0.37728	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T	0.51817	0.71;0.69;1.28;1.27;1.27;1.25;1.27	5.51	1.76	0.24704	.	0.718423	0.14760	N	0.300038	T	0.28699	0.0711	N	0.24115	0.695	0.19575	N	0.999968	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B	0.10450	0.004;0.002;0.002;0.003;0.001;0.005;0.0	T	0.12967	-1.0527	10	0.35671	T	0.21	-2.8834	5.0708	0.14606	0.6986:0.0:0.1626:0.1388	.	208;142;122;154;240;240;240	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	G	208;154;122;142;240;240;240;240;218	ENSP00000337993:E208G;ENSP00000359642:E142G;ENSP00000377282:E240G;ENSP00000401580:E240G;ENSP00000353069:E240G;ENSP00000348593:E240G;ENSP00000409594:E218G	ENSP00000337993:E208G	E	+	2	0	ZFYVE27	99500132	0.987000	0.35691	0.736000	0.30914	0.862000	0.49288	2.260000	0.43267	0.935000	0.37341	0.459000	0.35465	GAG		0.552	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		G	99510142	A	G	99510142	3	3	151	1	0	0	0	0	1	0	0	0	17669	304	11	4	741	4	ZFYVE27	10	99510142	Missense_Mutation	SNP	A	TCGA-13-1512-01A-01W-0545-08		99510142	36024605	33	8347											
PDCD11	22984	broad.mit.edu	37	10	105178278	105178278	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr10:105178278C>T	ENST00000369797.3	+	15	2087	c.1993C>T	c.(1993-1995)Ccc>Tcc	p.P665S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	665	S1 motif 7. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.P665S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGCTTTCCTCCCCACATCTCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	10											188	139	156					10																	105178278		2203	4300	6503	105168268	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1993C>T	10.37:g.105178278C>T	ENSP00000358812:p.Pro665Ser		105168268	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278933	0.59758	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.11821	2.74	5.93	5.93	0.95920	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.046420	0.85682	D	0.000000	T	0.34861	0.0912	L	0.61218	1.895	0.80722	D	1	D	0.56521	0.976	P	0.61275	0.886	T	0.00224	-1.1902	10	0.41790	T	0.15	-20.4719	20.3437	0.98782	0.0:1.0:0.0:0.0	.	665	Q14690	RRP5_HUMAN	S	665	ENSP00000358812:P665S	ENSP00000358812:P665S	P	+	1	0	PDCD11	105168268	1.000000	0.71417	0.845000	0.33349	0.109000	0.19521	7.254000	0.78329	2.815000	0.96918	0.561000	0.74099	CCC		0.542	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			T	105178278	C	T	105178278	3	4	151	1	0	0	0	0	1	0	0	0	11617	623	22	2	2047	2	PDCD11	10	105178278	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08	5668136	105178278	30356469	34	8348											
CTTN	2017	broad.mit.edu	37	11	70269076	70269076	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr11:70269076G>C	ENST00000301843.8	+	12	1138	c.932G>C	c.(931-933)gGg>gCg	p.G311A	CTTN_ENST00000376561.3_Missense_Mutation_p.G274A|CTTN_ENST00000538675.1_5'UTR|CTTN_ENST00000346329.3_Missense_Mutation_p.G274A	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	311					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.G311A(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGAAGTATGGGGTGCAGAAG	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											178	151	160					11																	70269076		2200	4294	6494	69946724	SO:0001583	missense	2017			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.932G>C	11.37:g.70269076G>C	ENSP00000301843:p.Gly311Ala		69946724	Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539263	0.85917	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561	T;T;T	0.44482	1.0;1.31;0.92	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.74053	0.3666	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.996	T	0.80634	-0.1295	10	0.49607	T	0.09	-26.1983	18.4265	0.90611	0.0:0.0:1.0:0.0	.	274;311;274	Q96H99;Q14247;Q8N707	.;SRC8_HUMAN;.	A	274;311;274	ENSP00000317189:G274A;ENSP00000301843:G311A;ENSP00000365745:G274A	ENSP00000301843:G311A	G	+	2	0	CTTN	69946724	1.000000	0.71417	0.668000	0.29813	0.934000	0.57294	8.942000	0.92970	2.356000	0.79943	0.561000	0.74099	GGG		0.577	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		C	70269076	G	C	70269076	3	2	151	1	0	0	0	0	1	0	0	0	4044	1232	43	3	970	3	CTTN	11	70269076	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08		70269076	64737440	35	8349											
HOXC8	3224	broad.mit.edu	37	12	54405157	54405157	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr12:54405157A>C	ENST00000040584.4	+	2	958	c.721A>C	c.(721-723)Aag>Cag	p.K241Q	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	241					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K241Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						ggaagaAAACAAGGACTAAGC	0.448																																					GBM(197;701 2226 7002 18822 41696)											1	Substitution - Missense(1)	ovary(1)	12											79	101	93					12																	54405157		2182	4289	6471	52691424	SO:0001583	missense	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.721A>C	12.37:g.54405157A>C	ENSP00000040584:p.Lys241Gln		52691424	A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	37	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443516	0.43429	.	.	ENSG00000037965	ENST00000040584	D	0.90955	-2.76	5.16	5.16	0.70880	.	0.179416	0.33959	N	0.004395	T	0.81216	0.4776	N	0.08118	0	0.44762	D	0.997764	B	0.17038	0.02	B	0.14578	0.011	T	0.76908	-0.2785	10	0.38643	T	0.18	.	14.2786	0.66196	1.0:0.0:0.0:0.0	.	241	P31273	HXC8_HUMAN	Q	241	ENSP00000040584:K241Q	ENSP00000040584:K241Q	K	+	1	0	HOXC8	52691424	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.074000	0.64401	2.075000	0.62263	0.528000	0.53228	AAG		0.448	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			C	54405157	A	C	54405157	3	2	151	1	0	0	0	0	1	0	0	0	7316	131	5	5	727	5	HOXC8	12	54405157	Missense_Mutation	SNP	A	TCGA-13-1512-01A-01W-0545-08		54405157	79446738	36	8350											
VPS13C	54832	broad.mit.edu	37	15	62167097	62167097	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr15:62167097T>A	ENST00000261517.5	-	77	10465	c.10392A>T	c.(10390-10392)agA>agT	p.R3464S	VPS13C_ENST00000395896.4_Missense_Mutation_p.R3464S|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3421S|VPS13C_ENST00000249837.3_Missense_Mutation_p.R3421S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.R3464S(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAAAGAGGCTTCTCACTCCAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	15											99	101	100					15																	62167097		2203	4300	6503	59954389	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10392A>T	15.37:g.62167097T>A	ENSP00000261517:p.Arg3464Ser		59954389		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.312715	0.60414	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.41400	1.0;1.01;1.18	5.83	3.54	0.40534	.	0.151909	0.56097	D	0.000023	T	0.34629	0.0904	N	0.25144	0.715	0.44771	D	0.997775	B;B;B;B	0.34226	0.247;0.123;0.443;0.075	B;B;B;B	0.43413	0.253;0.13;0.419;0.041	T	0.16778	-1.0391	10	0.45353	T	0.12	.	9.0528	0.36387	0.0:0.2037:0.0:0.7963	.	3421;3464;3421;3464	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	3421;3464;3464;3464	ENSP00000249837:R3421S;ENSP00000261517:R3464S;ENSP00000379233:R3464S	ENSP00000249837:R3421S	R	-	3	2	VPS13C	59954389	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	1.818000	0.39012	1.023000	0.39654	0.528000	0.53228	AGA		0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62167097	T	A	62167097	3	1	151	1	0	0	0	0	1	0	0	0	17191	1780	62	5	933	5	VPS13C	15	62167097	Missense_Mutation	SNP	T	TCGA-13-1512-01A-01W-0545-08		62167097	40364295	37	8351											
GTF3C1	2975	broad.mit.edu	37	16	27549676	27549676	+	Splice_Site	SNP	A	A	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr16:27549676A>C	ENST00000356183.4	-	3	448	c.433T>G	c.(433-435)Tgg>Ggg	p.W145G	GTF3C1_ENST00000561623.1_Splice_Site_p.W145G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	145					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.W145G(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCTTCCCCCACCTGCAAATC	0.478																																																1	Substitution - Missense(1)	ovary(1)	16											57	54	55					16																	27549676		2197	4300	6497	27457177	SO:0001630	splice_region_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.432-1T>G	16.37:g.27549676A>C			27457177	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250277	0.80024	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.35973	1.28	5.38	5.38	0.77491	.	0.138323	0.52532	D	0.000061	T	0.60971	0.2310	M	0.74647	2.275	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.959;0.999	T	0.65360	-0.6187	10	0.72032	D	0.01	-5.6807	15.3533	0.74405	1.0:0.0:0.0:0.0	.	145;145	Q12789;Q12789-3	TF3C1_HUMAN;.	G	145	ENSP00000348510:W145G	ENSP00000348510:W145G	W	-	1	0	GTF3C1	27457177	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.867000	0.92314	2.161000	0.67846	0.460000	0.39030	TGG		0.478	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	Missense_Mutation	C	27549676	A	C	27549676	5	2	151	1	0	0	0	0	0	0	1	0	6872	173	6	5	6036	5	GTF3C1	16	27549676	Splice_Site	SNP	A	TCGA-13-1512-01A-01W-0545-08		27549676	62805077	38	8352											
SLC38A7	55238	broad.mit.edu	37	16	58713977	58713977	+	Silent	SNP	A	A	G			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr16:58713977A>G	ENST00000570101.1	-	2	937	c.54T>C	c.(52-54)gaT>gaC	p.D18D	SLC38A7_ENST00000564100.1_Silent_p.D18D|SLC38A7_ENST00000564391.1_Silent_p.D18D|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.D18D			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	18					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)	p.D18D(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCCCGGCATCCGTGCTCA	0.617																																																1	Substitution - coding silent(1)	ovary(1)	16											36	34	35					16																	58713977		2198	4300	6498	57271478	SO:0001819	synonymous_variant	55238			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.54T>C	16.37:g.58713977A>G			57271478	Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	37	CCDS10800.1																																																																																				0.617	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		G	58713977	A	G	58713977	2	3	151	1	0	0	0	0	0	0	0	1	14612	214	8	4		4	SLC38A7	16	58713977	Silent	SNP	A	TCGA-13-1512-01A-01W-0545-08	31164301	58713977	31640776	39	8353											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273L	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	58	61					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>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu		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	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	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	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	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;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	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		A	7577120	C	A	7577120	3	1	151	1	0	0	0	0	1	0	0	0	16381	536	19	3	468	3	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08		7577120	73618090	40	8354											
STAT5B	6777	broad.mit.edu	37	17	40379561	40379561	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr17:40379561C>A	ENST00000293328.3	-	3	439	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	91					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.A91S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGCTGTGTGGCATAGTGCCCC	0.557																																																1	Substitution - Missense(1)	ovary(1)	17											108	104	106					17																	40379561		2203	4300	6503	37633087	SO:0001583	missense	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.271G>T	17.37:g.40379561C>A	ENSP00000293328:p.Ala91Ser		37633087	Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190984	0.78789	.	.	ENSG00000173757	ENST00000293328;ENST00000415845	T;T	0.52526	0.66;0.66	5.44	5.44	0.79542	STAT transcription factor, protein interaction (4);	0.094300	0.64402	D	0.000001	T	0.54631	0.1870	L	0.46885	1.475	0.58432	D	0.999998	P;B	0.40731	0.728;0.433	P;B	0.47603	0.551;0.278	T	0.55373	-0.8151	10	0.66056	D	0.02	-10.2033	19.4483	0.94857	0.0:1.0:0.0:0.0	.	91;91	Q8WW55;P51692	.;STA5B_HUMAN	S	91	ENSP00000293328:A91S;ENSP00000398379:A91S	ENSP00000293328:A91S	A	-	1	0	STAT5B	37633087	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.259000	0.78381	2.835000	0.97688	0.591000	0.81541	GCC		0.557	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		A	40379561	C	A	40379561	3	1	151	1	0	0	0	0	1	0	0	0	15271	710	25	3	2160	3	STAT5B	17	40379561	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08	32802441	40379561	40815649	41	8355											
FAM117A	81558	broad.mit.edu	37	17	47794913	47794913	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr17:47794913C>A	ENST00000240364.2	-	6	951	c.872G>T	c.(871-873)gGt>gTt	p.G291V	FAM117A_ENST00000514018.1_5'Flank|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Missense_Mutation_p.G19V	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	291								p.G291V(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CTCGGCGGCACCCCGATGTTC	0.642																																																1	Substitution - Missense(1)	ovary(1)	17											38	36	37					17																	47794913		2192	4284	6476	45149912	SO:0001583	missense	81558			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.872G>T	17.37:g.47794913C>A	ENSP00000240364:p.Gly291Val		45149912	B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359541	0.24598	.	.	ENSG00000121104	ENST00000240364;ENST00000511743	.	.	.	5.2	2.11	0.27256	.	1.208640	0.05677	N	0.589694	T	0.31420	0.0796	L	0.43923	1.385	0.26710	N	0.970997	P	0.38078	0.617	B	0.39738	0.308	T	0.22243	-1.0222	9	0.18276	T	0.48	-37.4037	6.1225	0.20161	0.0:0.676:0.155:0.169	.	291	Q9C073	F117A_HUMAN	V	291;181	.	ENSP00000240364:G291V	G	-	2	0	FAM117A	45149912	0.027000	0.19231	0.032000	0.17829	0.726000	0.41606	0.208000	0.17415	0.338000	0.23692	0.655000	0.94253	GGT		0.642	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		A	47794913	C	A	47794913	3	1	151	1	0	0	0	0	1	0	0	0	5409	507	18	3	501	3	FAM117A	17	47794913	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08	7415352	47794913	33400297	42	8356											
CHAD	1101	broad.mit.edu	37	17	48543071	48543071	+	Missense_Mutation	SNP	C	C	T	rs35218093	byFrequency	TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr17:48543071C>T	ENST00000508540.1	-	2	1087	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R312Q	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	312	LRRCT.		R -> Q (in dbSNP:rs35218093).		bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.R312Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TTCTTACCGCCGAAGGCCCCG	0.562																																																1	Substitution - Missense(1)	ovary(1)	17											97	95	96					17																	48543071		2203	4300	6503	45898070	SO:0001583	missense	1101			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.935G>A	17.37:g.48543071C>T	ENSP00000423812:p.Arg312Gln		45898070	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356835	0.82243	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.04454	3.62;3.62	4.97	4.97	0.65823	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	M	0.64997	1.995	0.58432	D	0.999998	B	0.29612	0.251	B	0.14578	0.011	T	0.20974	-1.0259	10	0.32370	T	0.25	.	11.3247	0.49442	0.0:0.9126:0.0:0.0874	rs35218093	312	O15335	CHAD_HUMAN	Q	312	ENSP00000423812:R312Q;ENSP00000258969:R312Q	ENSP00000258969:R312Q	R	-	2	0	CHAD	45898070	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	4.092000	0.57707	2.578000	0.87016	0.655000	0.94253	CGG		0.562	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		T	48543071	C	T	48543071	3	4	151	1	0	0	0	0	1	0	0	0	3310	652	23	1	152	1	CHAD	17	48543071	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08	748158	48543071	32652139	43	8357											
ZNF521	25925	broad.mit.edu	37	18	22804982	22804982	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr18:22804982C>T	ENST00000361524.3	-	4	3048	c.2900G>A	c.(2899-2901)cGg>cAg	p.R967Q	ZNF521_ENST00000584787.1_Missense_Mutation_p.R747Q|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R967Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	967					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.R967Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAGGGAAACCGCTCTCCGCA	0.493			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - Missense(1)	ovary(1)	18											87	82	84					18																	22804982		2203	4300	6503	21058980	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2900G>A	18.37:g.22804982C>T	ENSP00000354794:p.Arg967Gln		21058980	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703467	0.48412	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.19532	2.14;2.14	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	L	0.28504	0.86	0.43724	D	0.996203	D	0.89917	1.0	D	0.91635	0.999	T	0.02251	-1.1188	10	0.13470	T	0.59	-30.0479	20.4239	0.99064	0.0:1.0:0.0:0.0	.	967	Q96K83	ZN521_HUMAN	Q	967;1001;967	ENSP00000354794:R967Q;ENSP00000382352:R967Q	ENSP00000354794:R967Q	R	-	2	0	ZNF521	21058980	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	7.487000	0.81328	2.828000	0.97474	0.655000	0.94253	CGG		0.493	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22804982	C	T	22804982	3	4	151	1	0	0	0	0	1	0	0	0	17965	652	23	1	1055	1	ZNF521	18	22804982	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08		22804982	55272266	44	8358											
MUC16	94025	broad.mit.edu	37	19	8977643	8977643	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr19:8977643T>C	ENST00000397910.4	-	72	42405	c.42202A>G	c.(42202-42204)Aca>Gca	p.T14068A	MUC16_ENST00000380951.5_Missense_Mutation_p.T709A|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14099				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.?(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAATACCTGTTGTGGCTTCT	0.493																																																1	Unknown(1)	ovary(1)	19											57	59	58					19																	8977643		1923	4125	6048	8838643	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42202A>G	19.37:g.8977643T>C	ENSP00000381008:p.Thr14068Ala		8838643	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	12.21	1.871078	0.33069	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.30448	1.53;1.53	3.31	3.31	0.37934	.	0.254013	0.20507	U	0.090967	T	0.25865	0.0630	N	0.04162	-0.26	.	.	.	P	0.48911	0.917	P	0.60682	0.878	T	0.29579	-1.0007	9	0.40728	T	0.16	.	8.3873	0.32508	0.0:0.0:0.0:1.0	.	14068	B5ME49	.	A	14068;709	ENSP00000381008:T14068A;ENSP00000370338:T709A	ENSP00000370338:T709A	T	-	1	0	MUC16	8838643	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	0.915000	0.28638	1.749000	0.51849	0.370000	0.22315	ACA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8977643	T	C	8977643	3	2	151	1	0	0	0	0	1	0	0	0	9973	1725	60	4	1373	4	MUC16	19	8977643	Missense_Mutation	SNP	T	TCGA-13-1512-01A-01W-0545-08		8977643	50151340	45	8359											
PKN1	5585	broad.mit.edu	37	19	14562650	14562650	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr19:14562650A>G	ENST00000242783.6	+	7	1145	c.980A>G	c.(979-981)gAg>gGg	p.E327G	PKN1_ENST00000342216.4_Missense_Mutation_p.E333G	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	327	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E327G(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGGACCCTGGAGGTACGAGTG	0.687																																					NSCLC(185;2539 2965 10733 52867)											1	Substitution - Missense(1)	ovary(1)	19											23	30	27					19																	14562650		1975	4140	6115	14423650	SO:0001583	missense	5585			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.980A>G	19.37:g.14562650A>G	ENSP00000242783:p.Glu327Gly		14423650	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507309	0.27036	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.22945	1.93;1.93	4.34	1.89	0.25635	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.295883	0.27654	U	0.018406	T	0.25531	0.0621	M	0.77103	2.36	0.30660	N	0.754481	B;B	0.29646	0.253;0.035	B;B	0.22601	0.04;0.018	T	0.24119	-1.0169	10	0.87932	D	0	-22.1869	6.5557	0.22460	0.6916:0.1656:0.0:0.1427	.	333;327	Q16512-2;Q16512	.;PKN1_HUMAN	G	327;333	ENSP00000242783:E327G;ENSP00000343325:E333G	ENSP00000242783:E327G	E	+	2	0	PKN1	14423650	1.000000	0.71417	0.931000	0.37212	0.323000	0.28346	4.616000	0.61197	0.520000	0.28426	-0.695000	0.03696	GAG		0.687	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		G	14562650	A	G	14562650	3	3	151	1	0	0	0	0	1	0	0	0	11979	304	11	4	1049	4	PKN1	19	14562650	Missense_Mutation	SNP	A	TCGA-13-1512-01A-01W-0545-08	5585007	14562650	44566333	46	8360											
FBL	2091	broad.mit.edu	37	19	40331298	40331298	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr19:40331298C>A	ENST00000221801.3	-	2	253	c.140G>T	c.(139-141)gGa>gTa	p.G47V	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	47	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G47V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		gcctccacctcctcctcgtcc	0.692																																																1	Substitution - Missense(1)	ovary(1)	19											19	22	21					19																	40331298		2201	4297	6498	45023138	SO:0001583	missense	2091			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.140G>T	19.37:g.40331298C>A	ENSP00000221801:p.Gly47Val		45023138	B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028714	0.54790	.	.	ENSG00000105202	ENST00000221801	D	0.89123	-2.47	4.47	3.4	0.38934	.	0.297850	0.36234	N	0.002716	T	0.77678	0.4166	N	0.14661	0.345	0.80722	D	1	P;P	0.48911	0.917;0.531	B;B	0.41135	0.348;0.066	T	0.78969	-0.1994	10	0.54805	T	0.06	-0.0789	8.4791	0.33032	0.0:0.89:0.0:0.11	.	47;47	B4DLD4;P22087	.;FBRL_HUMAN	V	47	ENSP00000221801:G47V	ENSP00000221801:G47V	G	-	2	0	FBL	45023138	0.114000	0.22134	0.955000	0.39395	0.157000	0.22087	4.936000	0.63506	2.297000	0.77311	0.561000	0.74099	GGA		0.692	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		A	40331298	C	A	40331298	3	1	151	1	0	0	0	0	1	0	0	0	5696	855	30	3	857	3	FBL	19	40331298	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08	25768648	40331298	18797685	47	8361											
SPTBN4	57731	broad.mit.edu	37	19	41072244	41072244	+	Silent	SNP	C	C	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr19:41072244C>T	ENST00000352632.3	+	30	6401	c.6315C>T	c.(6313-6315)agC>agT	p.S2105S	SPTBN4_ENST00000392025.1_Silent_p.S848S|SPTBN4_ENST00000598249.1_Silent_p.S2105S|SPTBN4_ENST00000338932.3_Silent_p.S2105S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2105					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S2105S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAGGTTCAGCTCTCTGCGGC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19											15	17	17					19																	41072244		2196	4295	6491	45764084	SO:0001819	synonymous_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6315C>T	19.37:g.41072244C>T			45764084	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																				0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41072244	C	T	41072244	2	4	151	1	0	0	0	0	0	0	0	1	15123	796	28	2		2	SPTBN4	19	41072244	Silent	SNP	C	TCGA-13-1512-01A-01W-0545-08	740946	41072244	18056739	48	8362											
AXL	558	broad.mit.edu	37	19	41725367	41725367	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr19:41725367T>G	ENST00000301178.4	+	1	260	c.70T>G	c.(70-72)Tgc>Ggc	p.C24G	AXL_ENST00000359092.3_Missense_Mutation_p.C24G|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	24					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C24G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CGGCTGGGCGTGCATGGCCCC	0.692																																																1	Substitution - Missense(1)	ovary(1)	19											12	16	15					19																	41725367		2195	4287	6482	46417207	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.70T>G	19.37:g.41725367T>G	ENSP00000301178:p.Cys24Gly		46417207	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	T	4.233	0.042169	0.08196	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.74737	-0.87;-0.82	4.21	0.637	0.17735	.	0.134868	0.34338	N	0.004057	T	0.48352	0.1495	N	0.14661	0.345	0.09310	N	1	B;B	0.23249	0.082;0.049	B;B	0.18871	0.023;0.01	T	0.33854	-0.9852	10	0.52906	T	0.07	-3.483	1.052	0.01582	0.1898:0.1081:0.1966:0.5054	.	24;24	P30530-2;P30530	.;UFO_HUMAN	G	24	ENSP00000301178:C24G;ENSP00000351995:C24G	ENSP00000301178:C24G	C	+	1	0	AXL	46417207	0.008000	0.16893	0.033000	0.17914	0.048000	0.14542	1.037000	0.30241	0.276000	0.22118	0.369000	0.22263	TGC		0.692	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			G	41725367	T	G	41725367	3	3	151	1	0	0	0	0	1	0	0	0	1238	1696	59	5	72	5	AXL	19	41725367	Missense_Mutation	SNP	T	TCGA-13-1512-01A-01W-0545-08	653123	41725367	17403616	49	8363											
ARHGEF1	9138	broad.mit.edu	37	19	42388541	42388541	+	Intron	SNP	T	T	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr19:42388541T>A	ENST00000354532.3	+	1	129				ARHGEF1_ENST00000347545.4_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.S3T|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.S3T|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000599846.1_Intron	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S3T(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGCGATGGCTTCTCTTTCCAC	0.701																																																1	Substitution - Missense(1)	ovary(1)	19											50	43	45					19																	42388541		2203	4300	6503	47080381	SO:0001627	intron_variant	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.-20+1185T>A	19.37:g.42388541T>A			47080381	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054642	0.36277	.	.	ENSG00000076928	ENST00000337665;ENST00000378152	T;T	0.67865	0.03;-0.29	3.6	2.56	0.30785	.	.	.	.	.	T	0.37128	0.0992	.	.	.	0.42148	D	0.991542	B;B	0.14438	0.01;0.001	B;B	0.08055	0.003;0.003	T	0.26849	-1.0091	8	0.02654	T	1	.	6.2981	0.21097	0.2206:0.0:0.0:0.7794	.	3;3	Q6NX52;Q92888-3	.;.	T	3	ENSP00000337261:S3T;ENSP00000367394:S3T	ENSP00000337261:S3T	S	+	1	0	ARHGEF1	47080381	0.817000	0.29147	0.508000	0.27688	0.385000	0.30292	0.913000	0.28611	0.714000	0.32081	0.451000	0.29950	TCT		0.701	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		A	42388541	T	A	42388541	1	1	151	0	1	0	0	0	0	0	0	0	893	1783	62	5		5	ARHGEF1	19	42388541	Intron	SNP	T	TCGA-13-1512-01A-01W-0545-08	663174	42388541	16740442	50	8364											
SIRPA	140885	broad.mit.edu	37	20	1903108	1903108	+	Missense_Mutation	SNP	G	G	A	rs2422666	byFrequency	TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr20:1903108G>A	ENST00000358771.4	+	4	1056	c.904G>A	c.(904-906)Gtt>Att	p.V302I	SIRPA_ENST00000356025.3_Missense_Mutation_p.V302I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V302I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	302	Ig-like C1-type 2.		V -> L (in dbSNP:rs2422666).		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V302I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGCCTCAACCGTTACAGAGAA	0.542																																					GBM(155;1668 1920 5945 42733 48121)											1	Substitution - Missense(1)	ovary(1)	20											215	176	189					20																	1903108		2203	4300	6503	1851108	SO:0001583	missense	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.904G>A	20.37:g.1903108G>A	ENSP00000351621:p.Val302Ile		1851108	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393238	0.25118	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.00612	6.22;6.22;6.22	5.35	-0.247	0.13019	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.254340	0.05720	N	0.597593	T	0.00468	0.0015	N	0.16037	0.36	0.09310	N	1	B;B;B	0.22276	0.003;0.067;0.003	B;B;B	0.11329	0.001;0.006;0.001	T	0.45877	-0.9231	10	0.22109	T	0.4	.	1.5849	0.02642	0.1324:0.3821:0.2576:0.2279	.	282;302;302	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	302	ENSP00000382941:V302I;ENSP00000348307:V302I;ENSP00000351621:V302I	ENSP00000348307:V302I	V	+	1	0	SIRPA	1851108	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.154000	0.03166	-0.276000	0.09206	-0.120000	0.15030	GTT		0.542	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		A	1903108	G	A	1903108	3	1	151	1	0	0	0	0	1	0	0	0	14335	1145	40	1	918	1	SIRPA	20	1903108	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08		1903108	61122412	51	8365											
PCSK2	5126	broad.mit.edu	37	20	17434587	17434587	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr20:17434587C>G	ENST00000262545.2	+	9	1401	c.1086C>G	c.(1084-1086)aaC>aaG	p.N362K	PCSK2_ENST00000536609.1_Missense_Mutation_p.N327K|PCSK2_ENST00000377899.1_Missense_Mutation_p.N343K	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	362	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.N362K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGAAAAGGAACCCCGAGGCCG	0.597																																																1	Substitution - Missense(1)	ovary(1)	20											95	79	85					20																	17434587		2203	4300	6503	17382587	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1086C>G	20.37:g.17434587C>G	ENSP00000262545:p.Asn362Lys		17382587	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478047	0.44044	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.71222	-0.37;-0.37;-0.55	5.53	1.32	0.21799	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	N	0.14661	0.345	0.80722	D	1	B;B	0.29270	0.24;0.016	B;B	0.39771	0.309;0.013	T	0.54105	-0.8343	10	0.66056	D	0.02	-36.5633	8.7169	0.34416	0.0:0.5191:0.0:0.4809	.	327;362	B4DFQ3;P16519	.;NEC2_HUMAN	K	343;362;327	ENSP00000367131:N343K;ENSP00000262545:N362K;ENSP00000437458:N327K	ENSP00000262545:N362K	N	+	3	2	PCSK2	17382587	1.000000	0.71417	0.997000	0.53966	0.778000	0.44026	1.179000	0.31993	0.279000	0.22186	0.655000	0.94253	AAC		0.597	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		G	17434587	C	G	17434587	3	3	151	1	0	0	0	0	1	0	0	0	11601	506	18	3	1120	3	PCSK2	20	17434587	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08	15531479	17434587	45590933	52	8366											
DIDO1	11083	broad.mit.edu	37	20	61541214	61541214	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr20:61541214G>A	ENST00000266070.4	-	4	1323	c.998C>T	c.(997-999)gCa>gTa	p.A333V	DIDO1_ENST00000354665.4_Missense_Mutation_p.A333V|DIDO1_ENST00000370368.1_Missense_Mutation_p.A333V|DIDO1_ENST00000370366.1_Missense_Mutation_p.A333V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A333V|DIDO1_ENST00000370371.4_Missense_Mutation_p.A333V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A333V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A333V|DIDO1_ENST00000266071.5_Missense_Mutation_p.A333V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	333					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A333V(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGCTGATCTGCCGTTTCTGA	0.483																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											1	Substitution - Missense(1)	ovary(1)	20											142	122	129					20																	61541214		2203	4300	6503	61011659	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.998C>T	20.37:g.61541214G>A	ENSP00000266070:p.Ala333Val		61011659	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092150	0.36952	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19669	3.0;3.0;2.61;2.61;2.13;2.13;2.13;2.15;2.15	5.35	5.35	0.76521	.	0.859343	0.09627	N	0.776762	T	0.18425	0.0442	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.30406	0.023;0.213;0.003;0.278	B;B;B;B	0.29862	0.03;0.108;0.003;0.057	T	0.11299	-1.0593	10	0.27785	T	0.31	-3.8973	10.2329	0.43266	0.0733:0.136:0.7907:0.0	.	333;333;333;333	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	V	333	ENSP00000266070:A333V;ENSP00000378752:A333V;ENSP00000378749:A333V;ENSP00000378744:A333V;ENSP00000359397:A333V;ENSP00000359394:A333V;ENSP00000346692:A333V;ENSP00000359391:A333V;ENSP00000266071:A333V	ENSP00000266070:A333V	A	-	2	0	DIDO1	61011659	0.004000	0.15560	0.036000	0.18154	0.020000	0.10135	1.392000	0.34486	2.661000	0.90470	0.555000	0.69702	GCA		0.483	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61541214	G	A	61541214	3	1	151	1	0	0	0	0	1	0	0	0	4522	1319	46	2	5906	2	DIDO1	20	61541214	Missense_Mutation	SNP	G	TCGA-13-1512-01A-01W-0545-08	44106627	61541214	1484306	53	8367											
UMODL1	89766	broad.mit.edu	37	21	43510524	43510524	+	Missense_Mutation	SNP	C	C	T	rs192021779	byFrequency	TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chr21:43510524C>T	ENST00000408910.2	+	6	907	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	UMODL1_ENST00000408989.2_Missense_Mutation_p.R303W|UMODL1_ENST00000400427.1_Missense_Mutation_p.R231W|UMODL1_ENST00000400424.2_Missense_Mutation_p.R231W	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	303	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.R231W(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGTCTCCACGGAAGCTGAA	0.567																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											1	Substitution - Missense(1)	ovary(1)	21											88	92	91					21																	43510524		2083	4207	6290	42383593	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.907C>T	21.37:g.43510524C>T	ENSP00000386147:p.Arg303Trp		42383593	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574676	0.45902	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	T;T;T;T	0.72505	-0.66;-0.65;-0.66;-0.66	3.8	2.8	0.32819	.	1.482540	0.04875	U	0.446707	T	0.73916	0.3648	N	0.22421	0.69	0.09310	N	1	D;D	0.89917	1.0;0.998	D;P	0.67103	0.949;0.613	T	0.64076	-0.6492	10	0.66056	D	0.02	-2.4571	8.4692	0.32975	0.0:0.7593:0.2407:0.0	.	303;303	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	W	231;231;303;303;149;149	ENSP00000383279:R231W;ENSP00000383276:R231W;ENSP00000386126:R303W;ENSP00000386147:R303W	ENSP00000369829:R149W	R	+	1	2	UMODL1	42383593	0.001000	0.12720	0.018000	0.16275	0.017000	0.09413	0.483000	0.22292	2.050000	0.60909	0.313000	0.20887	CGG		0.567	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43510524	C	T	43510524	3	4	151	1	0	0	0	0	1	0	0	0	16980	527	19	1	929	1	UMODL1	21	43510524	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08		43510524	4619371	54	8368											
IRAK1	3654	broad.mit.edu	37	X	153278665	153278665	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1512-01A-01W-0545-08	TCGA-13-1512-10A-01W-0546-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f50f19f0-38e0-4494-a374-683aeb0a09f6	bd645327-9100-4438-813a-35962e65e615	g.chrX:153278665C>T	ENST00000369980.3	-	12	1926	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	IRAK1_ENST00000393687.2_Missense_Mutation_p.E557K|IRAK1_ENST00000429936.2_Missense_Mutation_p.E583K|IRAK1_ENST00000369974.2_Missense_Mutation_p.E508K|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393682.1_Missense_Mutation_p.E568K	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	587					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.E587K(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCACTCTCCACGGGCTGG	0.692																																																1	Substitution - Missense(1)	ovary(1)	X											16	17	17					X																	153278665		2197	4286	6483	152931859	SO:0001583	missense	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1759G>A	X.37:g.153278665C>T	ENSP00000358997:p.Glu587Lys		152931859	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.8|20.8|20.8	4.050317|4.050317|4.050317	0.75846|0.75846|0.75846	.|.|.	.|.|.	ENSG00000184216|ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000444254;ENST00000443220|ENST00000437278	T;T;T;T;T|.|.	0.27720|.|.	1.65;1.65;1.65;1.65;1.65|.|.	5.38|5.38|5.38	5.38|5.38|5.38	0.77491|0.77491|0.77491	.|.|.	0.000000|.|.	0.56097|.|.	D|.|.	0.000040|.|.	T|T|.	0.50360|0.50360|.	0.1611|0.1611|.	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.35456|0.35456|0.35456	D|D|D	0.796072|0.796072|0.796072	D;D;D|.|.	0.89917|.|.	0.999;1.0;1.0|.|.	D;D;D|.|.	0.91635|.|.	0.996;0.997;0.999|.|.	T|T|.	0.58763|0.58763|.	-0.7579|-0.7579|.	10|5|.	0.52906|.|.	T|.|.	0.07|.|.	-29.0142|-29.0142|-29.0142	13.4486|13.4486|13.4486	0.61155|0.61155|0.61155	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	508;587;557|.|.	P51617-4;P51617;P51617-2|.|.	.;IRAK1_HUMAN;.|.|.	K|E|X	587;508;568;557;583|142;335|150	ENSP00000358997:E587K;ENSP00000358991:E508K;ENSP00000377287:E568K;ENSP00000377291:E557K;ENSP00000392662:E583K|.|.	ENSP00000358991:E508K|.|.	E|G|W	-|-|-	1|2|3	0|0|0	IRAK1|IRAK1|IRAK1	152931859|152931859|152931859	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.347000|0.347000|0.347000	0.29111|0.29111|0.29111	4.245000|4.245000|4.245000	0.58734|0.58734|0.58734	2.239000|2.239000|2.239000	0.73571|0.73571|0.73571	0.513000|0.513000|0.513000	0.50165|0.50165|0.50165	GAG|GGA|TGG		0.692	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			T	153278665	C	T	153278665	3	4	151	1	0	0	0	0	1	0	0	0	7821	864	30	2	391	2	IRAK1	23	153278665	Missense_Mutation	SNP	C	TCGA-13-1512-01A-01W-0545-08		153278665	1991895	55	8369											
PRAMEF4	400735	genome.wustl.edu	37	1	12941996	12941996	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:12941996T>A	ENST00000235349.5	-	3	624	c.554A>T	c.(553-555)aAg>aTg	p.K185M		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	185					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCAGCTTCTTACAGCACAG	0.453																																																0			1											36	45	42					1																	12941996		1272	2369	3641	12864583	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.554A>T	1.37:g.12941996T>A	ENSP00000235349:p.Lys185Met		12864583	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	t	10.59	1.394265	0.25205	.	.	ENSG00000243073	ENST00000235349	T	0.15952	2.38	1.48	-1.45	0.08828	.	0.894418	0.09587	N	0.782060	T	0.34337	0.0894	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.21075	-1.0256	10	0.62326	D	0.03	.	1.6088	0.02689	0.2947:0.2071:0.0:0.4981	.	185	O60810	PRAM4_HUMAN	M	185	ENSP00000235349:K185M	ENSP00000235349:K185M	K	-	2	0	PRAMEF4	12864583	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-1.140000	0.03210	-0.404000	0.07610	0.329000	0.21502	AAG		0.453	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		A	12941996	T	A	12941996	3	1	152	1	0	0	0	0	1	0	0	0	12440	1609	56	5	890	5	PRAMEF4	1	12941996	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09		12941996	236308625	1	8370											
PRAMEF14	729528	genome.wustl.edu	37	1	13669125	13669125	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:13669125C>T	ENST00000344998.3	-	4	1243	c.1061G>A	c.(1060-1062)aGt>aAt	p.S354N	PRAMEF14_ENST00000334600.6_Missense_Mutation_p.S402N|PRAMEF14_ENST00000602491.1_5'UTR			Q5SWL7	PRA14_HUMAN	PRAME family member 14	354					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCAGCCCACTGGTGTGGCA	0.547																																																0			1											93	107	102					1																	13669125		2153	4286	6439	13541712	SO:0001583	missense	729528					1p36.21	2014-04-01			ENSG00000204481	ENSG00000204481		"-"	13576	other	unknown							Standard	NM_001024661		Approved	OTTHUMG00000007916		Q5SWL7	OTTHUMG00000007916	ENST00000344998.3:c.1061G>A	1.37:g.13669125C>T	ENSP00000341333:p.Ser354Asn		13541712		Missense_Mutation	SNP	ENST00000344998.3	37		.	.	.	.	.	.	.	.	.	.	C	0.912	-0.718759	0.03182	.	.	ENSG00000204481	ENST00000344998;ENST00000334600	T;T	0.10099	2.91;2.91	1.69	-3.38	0.04883	.	3.691650	0.00984	N	0.003435	T	0.10337	0.0253	L	0.54323	1.7	0.09310	N	1	B	0.26902	0.163	B	0.22601	0.04	T	0.16748	-1.0392	10	0.49607	T	0.09	.	1.353	0.02177	0.1613:0.3292:0.3295:0.18	.	354	Q5SWL7	PRA14_HUMAN	N	354;402	ENSP00000341333:S354N;ENSP00000334410:S402N	ENSP00000334410:S402N	S	-	2	0	PRAMEF14	13541712	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.259000	0.02861	-1.674000	0.01461	0.162000	0.16502	AGT		0.547	PRAMEF14-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001099854		T	13669125	C	T	13669125	3	4	152	1	0	0	0	0	1	0	0	0	12433	565	20	2	1516	2	PRAMEF14	1	13669125	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	727129	13669125	235581496	2	8371											
HSD3B1	3283	genome.wustl.edu	37	1	120050202	120050202	+	Silent	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:120050202T>C	ENST00000369413.3	+	2	248	c.103T>C	c.(103-105)Ttg>Ctg	p.L35L	HSD3B1_ENST00000235547.6_Silent_p.L37L|HSD3B1_ENST00000528909.1_Silent_p.L35L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	35					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GATCAGGGTCTTGGACAAGGC	0.517																																																0			1											171	145	154					1																	120050202		2203	4300	6503	119851725	SO:0001819	synonymous_variant	3283			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.103T>C	1.37:g.120050202T>C			119851725	A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	CCDS903.1																																																																																				0.517	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		C	120050202	T	C	120050202	2	2	152	1	0	0	0	0	0	0	0	1	7390	1606	56	4		4	HSD3B1	1	120050202	Silent	SNP	T	TCGA-13-2057-01A-02D-1526-09	106381077	120050202	129200419	3	8372											
ADAM15	8751	genome.wustl.edu	37	1	155028902	155028902	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:155028902C>G	ENST00000356955.2	+	10	1056	c.955C>G	c.(955-957)Cag>Gag	p.Q319E	ADAM15_ENST00000359280.4_Missense_Mutation_p.Q319E|ADAM15_ENST00000271836.6_Missense_Mutation_p.Q319E|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.Q319E|ADAM15_ENST00000355956.2_Missense_Mutation_p.Q319E|ADAM15_ENST00000360674.4_Missense_Mutation_p.Q319E|ADAM15_ENST00000531455.1_Missense_Mutation_p.Q329E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.Q319E|ADAM15_ENST00000447332.3_Missense_Mutation_p.Q303E|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	319	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CATGGCCATTCAGAACTCCAT	0.532																																																0			1											131	115	121					1																	155028902		2203	4300	6503	153295526	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.955C>G	1.37:g.155028902C>G	ENSP00000349436:p.Gln319Glu		153295526	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376684	0.82682	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96	5.11	5.11	0.69529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.42682	D	0.000675	T	0.17662	0.0424	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;P;D;D	0.71674	0.998;0.998;0.996;0.988;0.976;0.998;0.998;0.998;0.947;0.99;0.998	D;D;D;D;D;D;D;D;P;D;D	0.85130	0.997;0.997;0.966;0.992;0.943;0.995;0.995;0.995;0.882;0.996;0.997	T	0.00599	-1.1651	10	0.66056	D	0.02	.	16.0708	0.80928	0.0:1.0:0.0:0.0	.	329;336;303;319;319;319;319;319;319;319;316	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	E	319;319;319;319;319;319;319;329	ENSP00000349436:Q319E;ENSP00000403843:Q319E;ENSP00000352226:Q319E;ENSP00000353892:Q319E;ENSP00000357397:Q319E;ENSP00000348227:Q319E;ENSP00000271836:Q319E;ENSP00000432927:Q329E	ENSP00000271836:Q319E	Q	+	1	0	ADAM15	153295526	0.882000	0.30256	0.998000	0.56505	0.997000	0.91878	2.072000	0.41510	2.659000	0.90383	0.655000	0.94253	CAG		0.532	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		G	155028902	C	G	155028902	3	3	152	1	0	0	0	0	1	0	0	0	237	827	29	3	993	3	ADAM15	1	155028902	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	34978700	155028902	94221719	4	8373											
FCGR3B	2214	genome.wustl.edu	37	1	161595976	161595976	+	Intron	SNP	T	T	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:161595976T>G	ENST00000540048.1	-	2	94				FCGR3B_ENST00000531221.1_Missense_Mutation_p.K215T|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.K179T|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.K179T			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGACACATTTTTACTCCCAAC	0.483																																																0			1											101	108	106					1																	161595976		2200	4300	6500	159862600	SO:0001627	intron_variant	2215			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+4181A>C	1.37:g.161595976T>G			159862600	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	1.253|1.253	-0.618121|-0.618121	0.03663|0.03663	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221|ENST00000421702	T;T;T|.	0.11063|.	2.81;2.81;2.81|.	2.47|2.47	-1.03|-1.03	0.10102|0.10102	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	1.852830|.	0.02724|.	N|.	0.114292|.	T|.	0.13628|.	0.0330|.	L|L	0.37630|0.37630	1.12|1.12	0.09310|0.09310	N|N	1|1	P|.	0.39940|.	0.696|.	B|.	0.43251|.	0.413|.	T|.	0.32134|.	-0.9918|.	10|.	0.15499|.	T|.	0.54|.	.|.	5.3182|5.3182	0.15866|0.15866	0.0:0.4884:0.0:0.5116|0.0:0.4884:0.0:0.5116	.|.	179|.	O75015|.	FCG3B_HUMAN|.	T|Y	179;179;215|199	ENSP00000356941:K179T;ENSP00000294800:K179T;ENSP00000433642:K215T|.	ENSP00000294800:K179T|.	K|X	-|-	2|3	0|2	FCGR3B|FCGR3B	159862600|159862600	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.027000|0.027000	0.11550|0.11550	-2.198000|-2.198000	0.01239|0.01239	-0.159000|-0.159000	0.11021|0.11021	0.324000|0.324000	0.21423|0.21423	AAA|TAA		0.483	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		G	161595976	T	G	161595976	1	3	152	0	1	0	0	0	0	0	0	0	5785	1841	64	5		5	FCGR3B	1	161595976	Intron	SNP	T	TCGA-13-2057-01A-02D-1526-09	6567074	161595976	87654645	5	8374											
SLC9A11	284525	genome.wustl.edu	37	1	173552738	173552738	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:173552738G>C	ENST00000367714.3	-	6	969	c.547C>G	c.(547-549)Ctc>Gtc	p.L183V	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.L81V	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	183					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CCTCTAATGAGATCAATGTAT	0.328																																																0			1											50	56	54					1																	173552738		2201	4293	6494	171819361	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.547C>G	1.37:g.173552738G>C	ENSP00000356687:p.Leu183Val		171819361	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943176	0.18281	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.15256	2.44;2.44	5.37	-1.78	0.07957	Cation/H+ exchanger (1);	0.646194	0.14300	N	0.328345	T	0.02455	0.0075	N	0.14661	0.345	0.22666	N	0.99888	B	0.25351	0.124	B	0.24701	0.055	T	0.41910	-0.9482	10	0.41790	T	0.15	-9.0439	5.4365	0.16484	0.4053:0.0:0.2875:0.3072	.	183	Q5TAH2	S9A11_HUMAN	V	183;81	ENSP00000356687:L183V;ENSP00000445437:L81V	ENSP00000356687:L183V	L	-	1	0	SLC9A11	171819361	0.992000	0.36948	0.980000	0.43619	0.111000	0.19643	0.252000	0.18278	-0.228000	0.09869	-1.099000	0.02127	CTC		0.328	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		C	173552738	G	C	173552738	3	2	152	1	0	0	0	0	1	0	0	0	14714	942	33	3	2919	3	SLC9A11	1	173552738	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	11956762	173552738	75697883	6	8375											
REN	5972	genome.wustl.edu	37	1	204124169	204124169	+	Missense_Mutation	SNP	C	C	T	rs145852603		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:204124169C>T	ENST00000272190.8	-	10	1224	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	ETNK2_ENST00000367199.2_5'Flank|REN_ENST00000367195.2_Missense_Mutation_p.R396H	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	399					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GAAGCCAATGCGGTTGTTACG	0.632																																																0			1						C	HIS/ARG	0,4406		0,0,2203	67	64	65		1196	4.2	1	1	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	REN	NM_000537.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	399/407	204124169	1,13005	2203	4300	6503	202390792	SO:0001583	missense	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.1196G>A	1.37:g.204124169C>T	ENSP00000272190:p.Arg399His		202390792	Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632178	0.87660	0.0	1.16E-4	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.60672	0.17;0.17	5.14	4.22	0.49857	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91235	0.5017	10	0.87932	D	0	.	15.5371	0.76013	0.0:0.8609:0.1391:0.0	.	399	P00797	RENI_HUMAN	H	396;318;399	ENSP00000356163:R396H;ENSP00000272190:R399H	ENSP00000272190:R399H	R	-	2	0	REN	202390792	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	5.604000	0.67626	1.278000	0.44430	0.591000	0.81541	CGC		0.632	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		T	204124169	C	T	204124169	3	4	152	1	0	0	0	0	1	0	0	0	13227	768	27	1	28	1	REN	1	204124169	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	30571431	204124169	45126452	7	8376											
CABC1	56997	genome.wustl.edu	37	1	227169789	227169789	+	Silent	SNP	G	G	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:227169789G>C	ENST00000366779.1	+	11	3563	c.792G>C	c.(790-792)gtG>gtC	p.V264V	ADCK3_ENST00000366778.1_Silent_p.V212V|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366777.3_Silent_p.V264V|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000458507.2_5'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	264					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AGCGGATCGTGCGCACGCTCT	0.687																																																0			1											35	33	33					1																	227169789		2201	4299	6500	225236412	SO:0001819	synonymous_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.792G>C	1.37:g.227169789G>C			225236412	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	CCDS1557.1																																																																																				0.687	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		C	227169789	G	C	227169789	2	2	152	1	0	0	0	0	0	0	0	1	2527	1306	46	3		3	CABC1	1	227169789	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09	23045620	227169789	22080832	8	8377											
URB2	9816	genome.wustl.edu	37	1	229772557	229772557	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:229772557C>T	ENST00000258243.2	+	4	2333	c.2197C>T	c.(2197-2199)Ctc>Ttc	p.L733F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	733						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGTGAGTGGACTCACATACCC	0.473																																																0			1											123	123	123					1																	229772557		2203	4300	6503	227839180	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2197C>T	1.37:g.229772557C>T	ENSP00000258243:p.Leu733Phe		227839180	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	8.559	0.877334	0.17395	.	.	ENSG00000135763	ENST00000258243	T	0.32023	1.47	5.23	-0.93	0.10441	.	1.435330	0.03679	N	0.245263	T	0.28863	0.0716	M	0.62723	1.935	0.09310	N	1	P	0.41748	0.761	B	0.35971	0.215	T	0.33979	-0.9847	9	.	.	.	0.0043	6.3952	0.21609	0.0:0.4059:0.3489:0.2452	.	733	Q14146	URB2_HUMAN	F	733	ENSP00000258243:L733F	.	L	+	1	0	URB2	227839180	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.259000	0.18405	-0.091000	0.12440	-0.225000	0.12378	CTC		0.473	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		T	229772557	C	T	229772557	3	4	152	1	0	0	0	0	1	0	0	0	17025	565	20	2	2207	2	URB2	1	229772557	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	2602768	229772557	19478064	9	8378											
MAP1LC3C	440738	genome.wustl.edu	37	1	242162259	242162259	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr1:242162259T>A	ENST00000357246.3	-	1	116	c.52A>T	c.(52-54)Agc>Tgc	p.S18C		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	18					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTACCCAAGCTTTTCCTCTGC	0.438											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											82	88	86					1																	242162259		2202	4300	6502	240228882	SO:0001583	missense	440738			AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.52A>T	1.37:g.242162259T>A	ENSP00000349785:p.Ser18Cys	2432	240228882	A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463449	0.43736	.	.	ENSG00000197769	ENST00000357246	T	0.50813	0.73	3.95	3.95	0.45737	.	0.085867	0.85682	D	0.000000	T	0.47078	0.1426	M	0.66506	2.035	0.42590	D	0.993248	B	0.18863	0.031	B	0.24006	0.05	T	0.52026	-0.8630	10	0.59425	D	0.04	.	11.7803	0.52010	0.0:0.0:0.0:1.0	.	18	Q9BXW4	MLP3C_HUMAN	C	18	ENSP00000349785:S18C	ENSP00000349785:S18C	S	-	1	0	MAP1LC3C	240228882	0.975000	0.34042	0.961000	0.40146	0.940000	0.58332	2.932000	0.48940	1.654000	0.50703	0.519000	0.50382	AGC		0.438	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		A	242162259	T	A	242162259	3	1	152	1	0	0	0	0	1	0	0	0	9233	1609	56	5	407	5	MAP1LC3C	1	242162259	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	12389702	242162259	7088362	10	8379											
APOB	338	genome.wustl.edu	37	2	21235422	21235422	+	Missense_Mutation	SNP	C	C	A	rs530601244		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:21235422C>A	ENST00000233242.1	-	26	4445	c.4318G>T	c.(4318-4320)Gta>Tta	p.V1440L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1440					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTTTTCTACATGACTGAAT	0.388																																																0			2											90	96	94					2																	21235422		2203	4300	6503	21088927	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4318G>T	2.37:g.21235422C>A	ENSP00000233242:p.Val1440Leu		21088927	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731020	0.30684	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00724	5.78	5.62	3.82	0.43975	.	0.601234	0.15805	N	0.243772	T	0.00967	0.0032	M	0.63428	1.95	0.09310	N	0.999996	B	0.25719	0.132	B	0.17098	0.017	T	0.46527	-0.9185	10	0.29301	T	0.29	.	3.8043	0.08771	0.0:0.5173:0.1813:0.3014	.	1440	P04114	APOB_HUMAN	L	1440	ENSP00000233242:V1440L	ENSP00000233242:V1440L	V	-	1	0	APOB	21088927	0.049000	0.20398	0.994000	0.49952	0.973000	0.67179	0.997000	0.29731	1.364000	0.46038	0.655000	0.94253	GTA		0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21235422	C	A	21235422	3	1	152	1	0	0	0	0	1	0	0	0	785	478	17	3	9389	3	APOB	2	21235422	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09		21235422	221963951	11	8380											
TCF23	150921	genome.wustl.edu	37	2	27375590	27375590	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:27375590G>T	ENST00000296096.5	+	3	630	c.500G>T	c.(499-501)gGc>gTc	p.G167V		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	167					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGCTGGAGGCCTGGGGTAC	0.567																																																0			2											91	82	85					2																	27375590		2203	4300	6503	27229094	SO:0001583	missense	150921			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.500G>T	2.37:g.27375590G>T	ENSP00000296096:p.Gly167Val		27229094	B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982758	0.53827	.	.	ENSG00000163792	ENST00000296096	D	0.97209	-4.29	5.02	3.09	0.35607	.	0.155904	0.43579	D	0.000558	D	0.93795	0.8016	L	0.50919	1.6	0.48236	D	0.999612	B	0.32302	0.363	B	0.28232	0.087	D	0.92609	0.6098	10	0.54805	T	0.06	-22.5243	9.4529	0.38736	0.0:0.152:0.6923:0.1557	.	167	Q7RTU1	TCF23_HUMAN	V	167	ENSP00000296096:G167V	ENSP00000296096:G167V	G	+	2	0	TCF23	27229094	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.073000	0.41519	2.495000	0.84180	0.655000	0.94253	GGC		0.567	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		T	27375590	G	T	27375590	3	4	152	1	0	0	0	0	1	0	0	0	15692	1203	42	3	510	3	TCF23	2	27375590	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	6140168	27375590	215823783	12	8381											
SOCS5	9655	genome.wustl.edu	37	2	46986359	46986359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:46986359G>A	ENST00000306503.5	+	2	862	c.690G>A	c.(688-690)tgG>tgA	p.W230*	SOCS5_ENST00000394861.2_Nonsense_Mutation_p.W230*	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	230					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCCAAAAATGGCATTTGATTA	0.378																																																0			2											42	44	43					2																	46986359		2201	4292	6493	46839863	SO:0001587	stop_gained	9655			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.690G>A	2.37:g.46986359G>A	ENSP00000305133:p.Trp230*		46839863	Q53SD4|Q8IYZ4	Nonsense_Mutation	SNP	ENST00000306503.5	37	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	36	5.974420	0.97162	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	.	.	.	5.65	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4853	14.5778	0.68262	0.0703:0.0:0.9297:0.0	.	.	.	.	X	230	.	ENSP00000305133:W230X	W	+	3	0	SOCS5	46839863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.615000	0.98356	1.626000	0.50381	0.655000	0.94253	TGG		0.378	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			A	46986359	G	A	46986359	4	1	152	1	0	0	0	0	0	1	0	0	14920	1212	42	2	692	2	SOCS5	2	46986359	Nonsense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	19610769	46986359	196213014	13	8382											
CD8B	926	genome.wustl.edu	37	2	87042774	87042774	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:87042774T>C	ENST00000349455.3	-	5	647	c.598A>G	c.(598-600)Aca>Gca	p.T200A	CD8B_ENST00000393759.2_3'UTR|CD8B_ENST00000393761.2_Silent_p.L187L|CD8B_ENST00000331469.2_Missense_Mutation_p.T230A	NM_172102.3	NP_742100.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TGTGAGGTTGTAGTATTGCTG	0.448																																																0			2											423	386	399					2																	87042774		2203	4300	6503	86896285	SO:0001583	missense	926				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000349455.3:c.598A>G	2.37:g.87042774T>C	ENSP00000340592:p.Thr200Ala		86896285	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000349455.3	37	CCDS1994.1	.	.	.	.	.	.	.	.	.	.	T	8.093	0.774882	0.16051	.	.	ENSG00000172116	ENST00000349455;ENST00000331469;ENST00000534926	.	.	.	2.0	-4.01	0.04045	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13282	-1.0515	7	0.87932	D	0	.	1.3636	0.02197	0.1362:0.3419:0.2713:0.2506	.	200;230	P10966-3;P10966-6	.;.	A	200;230;38	.	ENSP00000331172:T230A	T	-	1	0	CD8B	86896285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.328000	0.02680	-3.030000	0.00266	-0.709000	0.03644	ACA		0.448	CD8B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252594.1	NM_172099		C	87042774	T	C	87042774	3	2	152	1	0	0	0	0	1	0	0	0	3045	1638	57	4	47	4	CD8B	2	87042774	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	40056415	87042774	156156599	14	8383											
RNF149	284996	genome.wustl.edu	37	2	101905450	101905450	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:101905450C>T	ENST00000295317.3	-	4	955	c.848G>A	c.(847-849)aGa>aAa	p.R283K		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	283					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TGGCAGAATTCTAATAATATC	0.279																																					Colon(25;331 612 6521 7355 31028)											0			2											79	84	83					2																	101905450		2202	4298	6500	101271882	SO:0001583	missense	284996			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.848G>A	2.37:g.101905450C>T	ENSP00000295317:p.Arg283Lys		101271882	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289075	0.95517	.	.	ENSG00000163162	ENST00000295317	T	0.46063	0.88	5.08	5.08	0.68730	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.64402	D	0.000001	T	0.61286	0.2335	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63959	-0.6519	10	0.87932	D	0	.	18.8669	0.92296	0.0:1.0:0.0:0.0	.	283	Q8NC42	RN149_HUMAN	K	283	ENSP00000295317:R283K	ENSP00000295317:R283K	R	-	2	0	RNF149	101271882	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.643000	0.67895	2.528000	0.85240	0.591000	0.81541	AGA		0.279	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		T	101905450	C	T	101905450	3	4	152	1	0	0	0	0	1	0	0	0	13453	913	32	2	370	2	RNF149	2	101905450	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	14862676	101905450	141293923	15	8384											
POU3F3	5455	genome.wustl.edu	37	2	105472801	105472801	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:105472801C>T	ENST00000361360.2	+	1	833	c.833C>T	c.(832-834)gCg>gTg	p.A278V	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	278	Gly-rich.|His-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						caccaccacGCGCATCCTCAC	0.781																																																0			2											2	2	2					2																	105472801		1279	2532	3811	104839233	SO:0001583	missense	5455				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.833C>T	2.37:g.105472801C>T	ENSP00000355001:p.Ala278Val		104839233	P78379|Q4ZG25	Missense_Mutation	SNP	ENST00000361360.2	37	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621021	0.28889	.	.	ENSG00000198914	ENST00000361360	D	0.83591	-1.74	2.8	2.8	0.32819	.	1.113020	0.07239	U	0.863978	T	0.71945	0.3400	N	0.22421	0.69	0.22066	N	0.999381	B	0.13145	0.007	B	0.10450	0.005	T	0.56098	-0.8035	10	0.21014	T	0.42	.	9.3099	0.37898	0.0:1.0:0.0:0.0	.	278	P20264	PO3F3_HUMAN	V	278	ENSP00000355001:A278V	ENSP00000355001:A278V	A	+	2	0	POU3F3	104839233	0.999000	0.42202	0.999000	0.59377	0.860000	0.49131	3.716000	0.54904	1.600000	0.50102	0.391000	0.25812	GCG		0.781	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			T	105472801	C	T	105472801	3	4	152	1	0	0	0	0	1	0	0	0	12276	768	27	1	835	1	POU3F3	2	105472801	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	3567351	105472801	137726572	16	8385											
RGPD3	653489	genome.wustl.edu	37	2	107040641	107040641	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:107040641T>G	ENST00000409886.3	-	20	3869	c.3782A>C	c.(3781-3783)gAt>gCt	p.D1261A	RGPD3_ENST00000304514.7_Missense_Mutation_p.D1261A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1261					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACTGACACTATCATCCAAAGC	0.433																																																0			2											35	30	32					2																	107040641		662	1519	2181	106407073	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3782A>C	2.37:g.107040641T>G	ENSP00000386588:p.Asp1261Ala		106407073	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	2.947	-0.217517	0.06101	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.39997	1.05;1.05	2.35	2.35	0.29111	.	.	.	.	.	T	0.34048	0.0884	L	0.29908	0.895	0.21579	N	0.99963	D	0.58970	0.984	P	0.50970	0.655	T	0.09662	-1.0664	9	0.25751	T	0.34	-9.3041	4.1458	0.10215	0.0:0.1765:0.0:0.8235	.	1261	A6NKT7	RGPD3_HUMAN	A	1261	ENSP00000386588:D1261A;ENSP00000303659:D1261A	ENSP00000303659:D1261A	D	-	2	0	RGPD3	106407073	1.000000	0.71417	0.974000	0.42286	0.201000	0.24016	3.882000	0.56160	1.080000	0.41073	0.156000	0.16432	GAT		0.433	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		G	107040641	T	G	107040641	3	3	152	1	0	0	0	0	1	0	0	0	13290	1435	50	5	1510	5	RGPD3	2	107040641	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	1567840	107040641	136158732	17	8386											
BIN1	274	genome.wustl.edu	37	2	127825762	127825762	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:127825762G>C	ENST00000316724.5	-	7	1000	c.589C>G	c.(589-591)Caa>Gaa	p.Q197E	BIN1_ENST00000376113.2_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000351659.3_Missense_Mutation_p.Q197E|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000357970.3_Missense_Mutation_p.Q197E	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	197	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AGGTTAGTTTGAGCTACGAGA	0.597											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			2											115	92	100					2																	127825762		2203	4300	6503	127542232	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.589C>G	2.37:g.127825762G>C	ENSP00000316779:p.Gln197Glu	1560	127542232	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	.	25.9	4.680549	0.88542	.	.	ENSG00000136717	ENST00000357970;ENST00000351659;ENST00000316724	T;T;T	0.64438	-0.1;0.55;-0.09	4.87	4.87	0.63330	BAR (3);	0.331495	0.26867	N	0.022091	T	0.72112	0.3420	L	0.40543	1.245	0.80722	D	1	D;D;D;P	0.67145	0.983;0.996;0.996;0.79	D;P;D;P	0.76071	0.938;0.895;0.987;0.535	T	0.72472	-0.4283	10	0.48119	T	0.1	-8.9474	16.9534	0.86251	0.0:0.0:1.0:0.0	.	197;197;197;197	B7Z2Z2;O00499-3;O00499-5;O00499	.;.;.;BIN1_HUMAN	E	197	ENSP00000350654:Q197E;ENSP00000315388:Q197E;ENSP00000316779:Q197E	ENSP00000316779:Q197E	Q	-	1	0	BIN1	127542232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.437000	0.90302	2.532000	0.85374	0.549000	0.68633	CAA		0.597	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		C	127825762	G	C	127825762	3	2	152	1	0	0	0	0	1	0	0	0	1432	1299	45	3	1293	3	BIN1	2	127825762	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	20785121	127825762	115373611	18	8387											
COL5A2	1290	genome.wustl.edu	37	2	189899804	189899804	+	Silent	SNP	G	G	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:189899804G>C	ENST00000374866.3	-	53	4465	c.4191C>G	c.(4189-4191)gcC>gcG	p.A1397A		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1397	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGTTCTGGGAGGCTTCTTTTG	0.398																																																0			2											123	119	120					2																	189899804		2203	4300	6503	189608049	SO:0001819	synonymous_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4191C>G	2.37:g.189899804G>C			189608049	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	CCDS33350.1																																																																																				0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		C	189899804	G	C	189899804	2	2	152	1	0	0	0	0	0	0	0	1	3697	987	35	3		3	COL5A2	2	189899804	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09	62074042	189899804	53299569	19	8388											
PARD3B	117583	genome.wustl.edu	37	2	205986410	205986410	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:205986410T>C	ENST00000406610.2	+	8	1109	c.902T>C	c.(901-903)aTt>aCt	p.I301T	PARD3B_ENST00000349953.3_Missense_Mutation_p.I301T|PARD3B_ENST00000462231.1_Missense_Mutation_p.I301T|PARD3B_ENST00000358768.2_Missense_Mutation_p.I301T|PARD3B_ENST00000351153.1_Missense_Mutation_p.I301T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	301					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGTCAGTCATTGGCTCTCTT	0.458																																																0			2											126	120	122					2																	205986410		1923	4155	6078	205694655	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.902T>C	2.37:g.205986410T>C	ENSP00000385848:p.Ile301Thr		205694655	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37		.	.	.	.	.	.	.	.	.	.	T	6.653	0.488913	0.12641	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	6.16	3.8	0.43715	.	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.68952	2.095	0.47341	D	0.99939	D;D;D;D;D	0.89917	0.998;1.0;0.991;0.999;0.999	D;D;D;D;D	0.97110	0.995;0.996;0.914;0.999;1.0	T	0.80982	-0.1139	10	0.10902	T	0.67	.	9.5822	0.39495	0.0:0.1361:0.0:0.8639	.	301;301;301;301;301	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	T	301	ENSP00000385848:I301T;ENSP00000351618:I301T;ENSP00000317261:I301T;ENSP00000340280:I301T	ENSP00000340280:I301T	I	+	2	0	PARD3B	205694655	1.000000	0.71417	0.948000	0.38648	0.029000	0.11900	3.930000	0.56522	0.564000	0.29238	-0.256000	0.11100	ATT		0.458	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		C	205986410	T	C	205986410	3	2	152	1	0	0	0	0	1	0	0	0	11444	1493	52	4	932	4	PARD3B	2	205986410	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	16086606	205986410	37212963	20	8389											
SH3BP4	23677	genome.wustl.edu	37	2	235951006	235951006	+	Silent	SNP	G	G	A	rs148242042		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr2:235951006G>A	ENST00000409212.1	+	4	2100	c.1593G>A	c.(1591-1593)ttG>ttA	p.L531L	SH3BP4_ENST00000392011.2_Silent_p.L531L|SH3BP4_ENST00000344528.4_Silent_p.L531L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	531					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGTTCGTTTTGTCCAGGCCCC	0.587													G|||	1	0.000199681	0	0	5008	,	,		20712	0		0	False		,,,				2504	0.001															0			2						G		3,4403	8.1+/-20.4	0,3,2200	68	71	70		1593	4.1	0.1	2	dbSNP_134	70	0,8600		0,0,4300	yes	coding-synonymous	SH3BP4	NM_014521.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		531/964	235951006	3,13003	2203	4300	6503	235615745	SO:0001819	synonymous_variant	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1593G>A	2.37:g.235951006G>A			235615745	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																				0.587	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			A	235951006	G	A	235951006	2	1	152	1	0	0	0	0	0	0	0	1	14249	1368	48	2		2	SH3BP4	2	235951006	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09	29964596	235951006	7248367	21	8390											
BRPF1	7862	genome.wustl.edu	37	3	9786009	9786009	+	Silent	SNP	A	A	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr3:9786009A>C	ENST00000457855.1	+	8	2730	c.2719A>C	c.(2719-2721)Agg>Cgg	p.R907R	BRPF1_ENST00000383829.2_Silent_p.R913R|BRPF1_ENST00000302054.3_Silent_p.R907R|BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000424362.1_Silent_p.R906R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	907	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACCGCCCAAGAGGCCGGGCCG	0.647																																																0			3											33	41	38					3																	9786009		2203	4300	6503	9761009	SO:0001819	synonymous_variant	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2719A>C	3.37:g.9786009A>C			9761009	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	CCDS2575.1																																																																																				0.647	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		C	9786009	A	C	9786009	2	2	152	1	0	0	0	0	0	0	0	1	1520	295	11	5		5	BRPF1	3	9786009	Silent	SNP	A	TCGA-13-2057-01A-02D-1526-09		9786009	188236421	22	8391											
ARPP21	10777	genome.wustl.edu	37	3	35778833	35778833	+	Missense_Mutation	SNP	G	G	T	rs149775645		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr3:35778833G>T	ENST00000187397.4	+	16	2079	c.1623G>T	c.(1621-1623)atG>atT	p.M541I	ARPP21_ENST00000444190.1_Missense_Mutation_p.M487I|ARPP21_ENST00000337271.5_Missense_Mutation_p.M487I|ARPP21_ENST00000458225.1_Missense_Mutation_p.M507I|ARPP21_ENST00000417925.1_Missense_Mutation_p.M507I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	541	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGCCACAGATGGCAGGCCCTC	0.632																																																0			3											25	27	26					3																	35778833		2201	4286	6487	35753837	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1623G>T	3.37:g.35778833G>T	ENSP00000187397:p.Met541Ile		35753837	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816895	0.32145	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.41400	1.01;1.01;1.01;1.0;1.01	5.91	5.91	0.95273	.	0.543163	0.20214	N	0.096821	T	0.40067	0.1102	L	0.57536	1.79	0.28699	N	0.904199	B;B;B;B	0.23650	0.089;0.002;0.024;0.089	B;B;B;B	0.23275	0.045;0.003;0.008;0.045	T	0.24584	-1.0156	10	0.22706	T	0.39	-3.4265	13.6934	0.62562	0.0:0.0:0.7306:0.2694	.	507;29;541;487	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	I	507;487;487;541;507	ENSP00000414351:M507I;ENSP00000337792:M487I;ENSP00000405276:M487I;ENSP00000187397:M541I;ENSP00000412326:M507I	ENSP00000187397:M541I	M	+	3	0	ARPP21	35753837	1.000000	0.71417	0.519000	0.27824	0.936000	0.57629	2.209000	0.42806	2.808000	0.96608	0.655000	0.94253	ATG		0.632	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		T	35778833	G	T	35778833	3	4	152	1	0	0	0	0	1	0	0	0	978	1348	47	3	1690	3	ARPP21	3	35778833	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	25992824	35778833	162243597	23	8392											
PTH1R	5745	genome.wustl.edu	37	3	46944896	46944896	+	Missense_Mutation	SNP	G	G	A	rs201315349	byFrequency	TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr3:46944896G>A	ENST00000313049.5	+	14	1735	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	PTH1R_ENST00000418619.1_Missense_Mutation_p.R511H|PTH1R_ENST00000430002.2_Missense_Mutation_p.R511H|PTH1R_ENST00000449590.1_Missense_Mutation_p.R511H			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	511					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GTCGGCCCCCGTGTGGGACTC	0.667													G|||	2	0.000399361	0	0.0029	5008	,	,		15705	0		0	False		,,,				2504	0															0			3											49	42	44					3																	46944896		2203	4300	6503	46919900	SO:0001583	missense	5745				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1532G>A	3.37:g.46944896G>A	ENSP00000321999:p.Arg511His		46919900	Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	CCDS2747.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	24.2	4.501462	0.85176	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.1	5.1	0.69264	.	.	.	.	.	T	0.78868	0.4351	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.79040	-0.1966	9	0.54805	T	0.06	.	18.0461	0.89332	0.0:0.0:1.0:0.0	.	511	Q03431	PTH1R_HUMAN	H	511;511;511;511;511;816;100	ENSP00000402723:R511H;ENSP00000411424:R511H;ENSP00000400977:R511H;ENSP00000413774:R511H;ENSP00000321999:R511H;ENSP00000396176:R100H	ENSP00000321999:R511H	R	+	2	0	PTH1R	46919900	0.995000	0.38212	0.949000	0.38748	0.407000	0.30961	5.210000	0.65214	2.814000	0.96858	0.563000	0.77884	CGT		0.667	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		A	46944896	G	A	46944896	3	1	152	1	0	0	0	0	1	0	0	0	12761	1145	40	1	1586	1	PTH1R	3	46944896	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	11166063	46944896	151077534	24	8393											
TMEM89	440955	genome.wustl.edu	37	3	48658923	48658923	+	Silent	SNP	C	C	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr3:48658923C>A	ENST00000330862.3	-	1	365	c.267G>T	c.(265-267)cgG>cgT	p.R89R		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	89						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGAGCGCCGCCGCCCCTGCA	0.622																																																0			3											30	29	29					3																	48658923		2203	4299	6502	48633927	SO:0001819	synonymous_variant	440955			AX657016	CCDS33751.1	3p21.31	2005-11-02			ENSG00000183396	ENSG00000183396			32372	protein-coding gene	gene with protein product							Standard	NM_001008269		Approved		uc011bbo.2	A2RUT3	OTTHUMG00000156647	ENST00000330862.3:c.267G>T	3.37:g.48658923C>A			48633927		Silent	SNP	ENST00000330862.3	37	CCDS33751.1																																																																																				0.622	TMEM89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345046.1	NM_001008269		A	48658923	C	A	48658923	2	1	152	1	0	0	0	0	0	0	0	1	16213	726	26	3		3	TMEM89	3	48658923	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	1714027	48658923	149363507	25	8394											
SLC41A3	54946	genome.wustl.edu	37	3	125726056	125726056	+	Silent	SNP	G	G	A	rs371601677		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr3:125726056G>A	ENST00000315891.6	-	11	1505	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	SLC41A3_ENST00000360370.4_Silent_p.L423L|SLC41A3_ENST00000508835.1_Silent_p.L306L|SLC41A3_ENST00000346785.5_Silent_p.L387L|SLC41A3_ENST00000383598.2_Silent_p.L397L	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	423						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		GCGAGGTACAGCAGGATTGTC	0.547																																																0			3											59	55	56					3																	125726056		2203	4300	6503	127208746	SO:0001819	synonymous_variant	54946				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1267C>T	3.37:g.125726056G>A			127208746	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Silent	SNP	ENST00000315891.6	37	CCDS33843.1																																																																																				0.547	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		A	125726056	G	A	125726056	2	1	152	1	0	0	0	0	0	0	0	1	14634	962	34	2		2	SLC41A3	3	125726056	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09	77067133	125726056	72296374	26	8395											
ATP2C1	27032	genome.wustl.edu	37	3	130682849	130682849	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr3:130682849A>T	ENST00000510168.1	+	13	1484	c.934A>T	c.(934-936)Att>Ttt	p.I312F	ATP2C1_ENST00000504948.1_Missense_Mutation_p.I296F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I296F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I296F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I312F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I346F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I307F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I257F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I312F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I312F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I296F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I312F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I312F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	312					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGTCTCCCCATTGTGGTCAC	0.398									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)											0			3											189	181	184					3																	130682849		2203	4300	6503	132165539	SO:0001583	missense	27032	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.934A>T	3.37:g.130682849A>T	ENSP00000427461:p.Ile312Phe		132165539	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374528	0.82573	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421;ENST00000515854	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.85	3.46	0.39613	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.94984	0.8377	M	0.86343	2.81	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.998;0.999;0.999	D;D;D;D;D;D;D	0.81914	0.988;0.993;0.995;0.988;0.995;0.988;0.993	D	0.93883	0.7173	10	0.62326	D	0.03	.	10.1213	0.42623	0.8645:0.0:0.1355:0.0	.	346;307;346;312;346;312;312	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	F	296;257;296;346;307;312;312;296;296;312;312;312;312;311;51	ENSP00000423774:I296F;ENSP00000425320:I257F;ENSP00000421326:I296F;ENSP00000376914:I346F;ENSP00000432956:I307F;ENSP00000427461:I312F;ENSP00000424783:I312F;ENSP00000423330:I296F;ENSP00000422872:I296F;ENSP00000329664:I312F;ENSP00000395809:I312F;ENSP00000352665:I312F;ENSP00000402677:I312F;ENSP00000422890:I51F	ENSP00000329664:I312F	I	+	1	0	ATP2C1	132165539	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.962000	0.93254	0.475000	0.27415	0.402000	0.26972	ATT		0.398	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		T	130682849	A	T	130682849	3	4	152	1	0	0	0	0	1	0	0	0	1143	217	8	5	980	5	ATP2C1	3	130682849	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	4956793	130682849	67339581	27	8396											
ESYT3	83850	genome.wustl.edu	37	3	138174076	138174076	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr3:138174076A>G	ENST00000389567.4	+	3	596	c.410A>G	c.(409-411)gAa>gGa	p.E137G	ESYT3_ENST00000289135.4_Missense_Mutation_p.E137G	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	137	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATGATCATGGAAAGCAAGTTC	0.522																																																0			3											145	139	141					3																	138174076		2203	4300	6503	139656766	SO:0001583	missense	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.410A>G	3.37:g.138174076A>G	ENSP00000374218:p.Glu137Gly		139656766	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436862	0.83885	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	D;D	0.91996	-2.95;-2.95	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95875	0.8657	M	0.81497	2.545	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	D	0.96169	0.9121	10	0.66056	D	0.02	-9.0989	13.9228	0.63942	1.0:0.0:0.0:0.0	.	137	A0FGR9	ESYT3_HUMAN	G	137	ENSP00000374218:E137G;ENSP00000289135:E137G	ENSP00000289135:E137G	E	+	2	0	ESYT3	139656766	1.000000	0.71417	0.959000	0.39883	0.764000	0.43329	7.634000	0.83273	2.180000	0.69256	0.379000	0.24179	GAA		0.522	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		G	138174076	A	G	138174076	3	3	152	1	0	0	0	0	1	0	0	0	5266	246	9	4	420	4	ESYT3	3	138174076	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	7491227	138174076	59848354	28	8397											
PIK3CB	5291	genome.wustl.edu	37	3	138413688	138413688	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr3:138413688T>A	ENST00000477593.1	-	13	1905	c.1832A>T	c.(1831-1833)gAt>gTt	p.D611V	PIK3CB_ENST00000544716.1_Missense_Mutation_p.D57V|PIK3CB_ENST00000289153.2_Missense_Mutation_p.D611V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	611	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATAGTTGAAATCCAGAAGCTC	0.488																																																0			3											65	72	70					3																	138413688		2203	4300	6503	139896378	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1832A>T	3.37:g.138413688T>A	ENSP00000418143:p.Asp611Val		139896378	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.671520|4.671520	0.88348|0.88348	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.66638|.	-0.22;-0.22;-0.22|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86096|0.86096	0.5851|0.5851	M|M	0.92691|0.92691	3.335|3.335	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.997;1.0|.	D|D	0.89232|0.89232	0.3578|0.3578	10|5	0.87932|.	D|.	0|.	-22.6557|-22.6557	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	611;198;57|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	V|F	611;57;611|243	ENSP00000418143:D611V;ENSP00000438259:D57V;ENSP00000289153:D611V|.	ENSP00000289153:D611V|.	D|I	-|-	2|1	0|0	PIK3CB|PIK3CB	139896378|139896378	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.802000|0.802000	0.45316|0.45316	7.581000|7.581000	0.82535|0.82535	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.488	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			A	138413688	T	A	138413688	3	1	152	1	0	0	0	0	1	0	0	0	11914	1435	50	5	1422	5	PIK3CB	3	138413688	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	239612	138413688	59608742	29	8398											
MUC20	200958	genome.wustl.edu	37	3	195452805	195452805	+	Missense_Mutation	SNP	T	T	C	rs138659995	byFrequency	TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr3:195452805T>C	ENST00000447234.2	+	2	1457	c.1331T>C	c.(1330-1332)cTc>cCc	p.L444P	MUC20_ENST00000436408.1_Missense_Mutation_p.L444P|MUC20_ENST00000445522.2_Missense_Mutation_p.L409P|MUC20_ENST00000320736.6_Missense_Mutation_p.L273P	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	444				L -> P (in Ref. 5; AAH29267). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GACACAGATCTCATCCCCACG	0.532																																																0			3											33	29	31					3																	195452805		2032	4172	6204	196938476	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1331T>C	3.37:g.195452805T>C	ENSP00000414350:p.Leu444Pro		196938476	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		304	0.1391941391941392	136	0.2764227642276423	44	0.12154696132596685	1	0.0017482517482517483	123	0.16226912928759896	A	5.982	0.365171	0.11296	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.15487	2.84;2.85;3.01;2.42	4.27	-8.54	0.00912	.	1.966210	0.02326	N	0.073463	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.24512	-1.0158	9	0.35671	T	0.21	11.8641	1.0464	0.01570	0.1498:0.2084:0.2288:0.413	.	273	E9PH32	.	P	444;273;444;409	ENSP00000414350:L444P;ENSP00000325431:L273P;ENSP00000396774:L444P;ENSP00000405629:L409P	ENSP00000325431:L273P	L	+	2	0	MUC20	196938476	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.973000	0.03798	-3.119000	0.00239	-0.454000	0.05498	CTC		0.532	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		C	195452805	T	C	195452805	3	2	152	1	0	0	0	0	1	0	0	0	9976	1551	54	4	828	4	MUC20	3	195452805	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	57039117	195452805	2569625	30	8399											
PPAT	5471	genome.wustl.edu	37	4	57261535	57261535	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr4:57261535C>G	ENST00000264220.2	-	11	1674	c.1537G>C	c.(1537-1539)Gta>Cta	p.V513L	RP11-646I6.6_ENST00000602749.1_lincRNA	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	513					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TCTAATTCTACAGGATATTTT	0.368																																																0			4											68	67	67					4																	57261535		2203	4297	6500	56956292	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1537G>C	4.37:g.57261535C>G	ENSP00000264220:p.Val513Leu		56956292		Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643328	0.47153	.	.	ENSG00000128059	ENST00000264220	.	.	.	5.28	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	L	0.48986	1.54	0.80722	D	1	B	0.24426	0.103	B	0.24848	0.056	T	0.56294	-0.8003	9	0.44086	T	0.13	-9.7189	14.2914	0.66281	0.0:0.9276:0.0:0.0724	.	513	Q06203	PUR1_HUMAN	L	513	.	ENSP00000264220:V513L	V	-	1	0	PPAT	56956292	1.000000	0.71417	0.977000	0.42913	0.739000	0.42172	5.769000	0.68865	1.356000	0.45884	0.650000	0.86243	GTA		0.368	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		G	57261535	C	G	57261535	3	3	152	1	0	0	0	0	1	0	0	0	12302	478	17	3	20	3	PPAT	4	57261535	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09		57261535	133892741	31	8400											
AFF1	4299	genome.wustl.edu	37	4	88026961	88026961	+	Splice_Site	SNP	C	C	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr4:88026961C>A	ENST00000307808.6	+	9	1739	c.1319C>A	c.(1318-1320)aCc>aAc	p.T440N	AFF1_ENST00000395146.4_Splice_Site_p.T447N|AFF1_ENST00000544085.1_Splice_Site_p.T78N	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	440					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AATGCCTAGACCCCAGAGAAG	0.428																																																0			4											230	219	223					4																	88026961		2203	4300	6503	88245985	SO:0001630	splice_region_variant	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1318-1C>A	4.37:g.88026961C>A			88245985	B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747872	0.49257	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.91	4.17	0.49024	.	0.800265	0.11631	N	0.544840	T	0.52901	0.1763	L	0.44542	1.39	0.28081	N	0.932181	B;B;B	0.31503	0.326;0.326;0.326	B;B;B	0.37650	0.255;0.255;0.255	T	0.47045	-0.9147	10	0.18710	T	0.47	-1.9435	5.3844	0.16211	0.0:0.5995:0.1791:0.2213	.	447;440;440	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	N	447;101;440;78;78;131	ENSP00000378578:T447N;ENSP00000305689:T440N;ENSP00000424766:T78N;ENSP00000440843:T78N;ENSP00000424881:T131N	ENSP00000305689:T440N	T	+	2	0	AFF1	88245985	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	1.051000	0.30417	1.484000	0.48361	0.655000	0.94253	ACC		0.428	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	Missense_Mutation	A	88026961	C	A	88026961	5	1	152	1	0	0	0	0	0	0	1	0	356	521	18	3	1395	3	AFF1	4	88026961	Splice_Site	SNP	C	TCGA-13-2057-01A-02D-1526-09	30765426	88026961	103127315	32	8401											
ALPK1	80216	genome.wustl.edu	37	4	113303690	113303690	+	Silent	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr4:113303690C>T	ENST00000458497.1	+	4	537	c.258C>T	c.(256-258)gcC>gcT	p.A86A	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Silent_p.A86A	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	86							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGATTGGCGCCGGGTTGCAGC	0.488																																																0			4											86	71	76					4																	113303690		2203	4300	6503	113523139	SO:0001819	synonymous_variant	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.258C>T	4.37:g.113303690C>T			113523139	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	CCDS3697.1																																																																																				0.488	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		T	113303690	C	T	113303690	2	4	152	1	0	0	0	0	0	0	0	1	544	639	23	1		1	ALPK1	4	113303690	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	25276729	113303690	77850586	33	8402											
SLC12A7	10723	genome.wustl.edu	37	5	1078822	1078822	+	Missense_Mutation	SNP	C	C	T	rs200454360	byFrequency	TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr5:1078822C>T	ENST00000264930.5	-	11	1491	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	483					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTACTTATCTCGTAAGACCAC	0.522													C|||	2	0.000399361	8e-04	0	5008	,	,		11980	0		0.001	False		,,,				2504	0															0			5											115	86	96					5																	1078822		2200	4298	6498	1131822	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1448G>A	5.37:g.1078822C>T	ENSP00000264930:p.Arg483Gln		1131822	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	19.22	3.786139	0.70337	.	.	ENSG00000113504	ENST00000264930	D	0.98617	-5.03	3.71	3.71	0.42584	Amino acid permease domain (1);	0.303685	0.29321	N	0.012490	D	0.97904	0.9311	M	0.75777	2.31	0.54753	D	0.999986	P	0.52170	0.951	P	0.45428	0.48	D	0.98183	1.0458	10	0.56958	D	0.05	.	14.9789	0.71296	0.0:1.0:0.0:0.0	.	483	Q9Y666	S12A7_HUMAN	Q	483	ENSP00000264930:R483Q	ENSP00000264930:R483Q	R	-	2	0	SLC12A7	1131822	0.565000	0.26610	0.987000	0.45799	0.122000	0.20287	3.898000	0.56281	2.040000	0.60383	0.485000	0.47835	CGA		0.522	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		T	1078822	C	T	1078822	3	4	152	1	0	0	0	0	1	0	0	0	14391	884	31	1	1859	1	SLC12A7	5	1078822	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09		1078822	179836438	34	8403											
DAB2	1601	genome.wustl.edu	37	5	39383071	39383071	+	Silent	SNP	C	C	T	rs199558080		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr5:39383071C>T	ENST00000320816.6	-	10	1457	c.990G>A	c.(988-990)ccG>ccA	p.P330P	DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Silent_p.P309P|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Silent_p.P309P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	330	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATTACTCAGCGGAGTAGACG	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		19568	0		0	False		,,,				2504	0															0			5						C		1,4405	2.1+/-5.4	0,1,2202	94	98	96		990	-4.7	1	5		96	0,8600		0,0,4300	no	coding-synonymous	DAB2	NM_001343.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		330/771	39383071	1,13005	2203	4300	6503	39418828	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.990G>A	5.37:g.39383071C>T			39418828	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		T	39383071	C	T	39383071	2	4	152	1	0	0	0	0	0	0	0	1	4218	755	27	1		1	DAB2	5	39383071	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	38304249	39383071	141532189	35	8404											
C6	729	genome.wustl.edu	37	5	41153978	41153978	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr5:41153978A>T	ENST00000263413.3	-	15	2488	c.2224T>A	c.(2224-2226)Tca>Aca	p.S742T	C6_ENST00000337836.5_Missense_Mutation_p.S742T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	742	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTGTACCTTGATGGCCCAGCA	0.463																																																0			5											122	105	111					5																	41153978		2203	4300	6503	41189735	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2224T>A	5.37:g.41153978A>T	ENSP00000263413:p.Ser742Thr		41189735		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	7.782	0.709677	0.15239	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.66280	-0.2;-0.2	5.61	3.08	0.35506	Complement control module (2);Sushi/SCR/CCP (3);	0.709838	0.14255	N	0.331192	T	0.50871	0.1641	M	0.64170	1.965	0.34294	D	0.683637	B	0.19445	0.036	B	0.26310	0.068	T	0.53070	-0.8490	10	0.17369	T	0.5	-11.6326	1.1749	0.01833	0.4833:0.1371:0.0982:0.2814	.	742	P13671	CO6_HUMAN	T	742	ENSP00000338861:S742T;ENSP00000263413:S742T	ENSP00000263413:S742T	S	-	1	0	C6	41189735	0.753000	0.28349	0.993000	0.49108	0.422000	0.31414	0.465000	0.22004	2.138000	0.66242	0.454000	0.30748	TCA		0.463	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			T	41153978	A	T	41153978	3	4	152	1	0	0	0	0	1	0	0	0	2315	333	12	5	596	5	C6	5	41153978	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	1770907	41153978	139761282	36	8405											
NNT	23530	genome.wustl.edu	37	5	43659363	43659363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr5:43659363G>T	ENST00000264663.5	+	17	2766	c.2545G>T	c.(2545-2547)Gag>Tag	p.E849*	NNT_ENST00000344920.4_Nonsense_Mutation_p.E849*|NNT_ENST00000512996.2_Nonsense_Mutation_p.E718*	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	849					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CCTGTGTGCAGAGGGCTTCCT	0.522																																																0			5											166	147	154					5																	43659363		2203	4300	6503	43695120	SO:0001587	stop_gained	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2545G>T	5.37:g.43659363G>T	ENSP00000264663:p.Glu849*		43695120	Q16796|Q2TB60|Q8N3V4	Nonsense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	43	10.376018	0.99393	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.9532	20.0099	0.97447	0.0:0.0:1.0:0.0	.	.	.	.	X	364;849;849;718	.	ENSP00000264663:E849X	E	+	1	0	NNT	43695120	1.000000	0.71417	0.965000	0.40720	0.984000	0.73092	9.476000	0.97823	2.725000	0.93324	0.655000	0.94253	GAG		0.522	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		T	43659363	G	T	43659363	4	4	152	1	0	0	0	0	0	1	0	0	10510	943	33	3	2607	3	NNT	5	43659363	Nonsense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	2505385	43659363	137255897	37	8406											
PCDHB4	56131	genome.wustl.edu	37	5	140503211	140503211	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr5:140503211C>T	ENST00000194152.1	+	1	1631	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	544	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A544V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGCGAGGCGCTGGTGCGC	0.687																																																1	Substitution - Missense(1)	large_intestine(1)	5											40	45	43					5																	140503211		2202	4294	6496	140483395	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1631C>T	5.37:g.140503211C>T	ENSP00000194152:p.Ala544Val		140483395	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972665	0.34848	.	.	ENSG00000081818	ENST00000194152	T	0.01787	4.64	3.88	3.88	0.44766	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01489	0.0048	N	0.20685	0.6	0.39162	D	0.962431	P	0.45078	0.85	P	0.45232	0.474	T	0.66300	-0.5958	9	0.13853	T	0.58	.	5.2581	0.15558	0.0:0.733:0.0:0.267	.	544	Q9Y5E5	PCDB4_HUMAN	V	544	ENSP00000194152:A544V	ENSP00000194152:A544V	A	+	2	0	PCDHB4	140483395	0.049000	0.20398	1.000000	0.80357	0.989000	0.77384	0.401000	0.20948	2.189000	0.69895	0.485000	0.47835	GCG		0.687	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		T	140503211	C	T	140503211	3	4	152	1	0	0	0	0	1	0	0	0	11544	768	27	1	1633	1	PCDHB4	5	140503211	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	96843848	140503211	40412049	38	8407											
FAM114A2	10827	genome.wustl.edu	37	5	153372545	153372545	+	Silent	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr5:153372545T>C	ENST00000351797.4	-	14	1585	c.1509A>G	c.(1507-1509)ttA>ttG	p.L503L	FAM114A2_ENST00000518946.1_5'UTR|FAM114A2_ENST00000520667.1_Silent_p.L503L|FAM114A2_ENST00000522858.1_Silent_p.L503L|FAM114A2_ENST00000520313.1_Silent_p.L433L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	503							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TTCAATGTTCTAACAAAGGTT	0.468																																																0			5											174	164	167					5																	153372545		2203	4300	6503	153352738	SO:0001819	synonymous_variant	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1509A>G	5.37:g.153372545T>C			153352738	B2R8D8|Q9H7E0	Silent	SNP	ENST00000351797.4	37	CCDS4323.1																																																																																				0.468	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		C	153372545	T	C	153372545	2	2	152	1	0	0	0	0	0	0	0	1	5404	1519	53	4		4	FAM114A2	5	153372545	Silent	SNP	T	TCGA-13-2057-01A-02D-1526-09	12869334	153372545	27542715	39	8408											
FARS2	10667	genome.wustl.edu	37	6	5771532	5771532	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:5771532A>G	ENST00000324331.6	+	7	1562	c.1226A>G	c.(1225-1227)aAg>aGg	p.K409R	FARS2_ENST00000274680.4_Missense_Mutation_p.K409R			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	409	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AGGACGCACAAGACCAGCCAC	0.597																																																0			6											132	97	109					6																	5771532		2203	4300	6503	5716531	SO:0001583	missense	10667			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	21062	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 2, mitochondrial"	611592	"phenylalanine-tRNA synthetase 1 (mitochondrial)"	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1226A>G	6.37:g.5771532A>G	ENSP00000316335:p.Lys409Arg		5716531	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	A	5.322	0.244818	0.10077	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.78126	-1.15;-1.15	5.81	-0.873	0.10635	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.277274	0.34245	N	0.004134	T	0.30008	0.0751	N	0.10733	0.035	0.40073	D	0.976034	B	0.02656	0.0	B	0.04013	0.001	T	0.31752	-0.9932	10	0.06494	T	0.89	-13.0281	11.364	0.49660	0.4515:0.0:0.5485:0.0	.	409	O95363	SYFM_HUMAN	R	409	ENSP00000274680:K409R;ENSP00000316335:K409R	ENSP00000274680:K409R	K	+	2	0	FARS2	5716531	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	0.996000	0.29719	-0.051000	0.13334	0.533000	0.62120	AAG		0.597	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		G	5771532	A	G	5771532	3	3	152	1	0	0	0	0	1	0	0	0	5678	72	3	4	1248	4	FARS2	6	5771532	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09		5771532	165343535	40	8409											
NUP153	9972	genome.wustl.edu	37	6	17629080	17629080	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:17629080A>T	ENST00000262077.2	-	18	3349	c.3350T>A	c.(3349-3351)gTt>gAt	p.V1117D	NUP153_ENST00000537253.1_Missense_Mutation_p.V1148D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1117					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTTCCCAAAAACTAGGGAAGT	0.453																																																0			6											95	96	96					6																	17629080		2203	4300	6503	17737059	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3350T>A	6.37:g.17629080A>T	ENSP00000262077:p.Val1117Asp		17737059	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606701	0.66558	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.08282	3.11;3.11	5.57	5.57	0.84162	.	0.000000	0.44902	D	0.000402	T	0.09512	0.0234	M	0.63428	1.95	0.53005	D	0.999964	D;P;P	0.55605	0.972;0.898;0.836	P;B;B	0.51615	0.675;0.372;0.296	T	0.05146	-1.0903	10	0.40728	T	0.16	-1.3456	11.6284	0.51160	0.9289:0.0:0.0711:0.0	.	1148;1097;1117	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	1117;1097;1148	ENSP00000262077:V1117D;ENSP00000444029:V1148D	ENSP00000262077:V1117D	V	-	2	0	NUP153	17737059	0.087000	0.21565	0.963000	0.40424	0.847000	0.48162	2.448000	0.44926	2.115000	0.64714	0.533000	0.62120	GTT		0.453	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			T	17629080	A	T	17629080	3	4	152	1	0	0	0	0	1	0	0	0	10755	43	2	5	1097	5	NUP153	6	17629080	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	11857548	17629080	153485987	41	8410											
BAT2	7916	genome.wustl.edu	37	6	31599151	31599151	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:31599151A>T	ENST00000376033.2	+	16	2935	c.2701A>T	c.(2701-2703)Aag>Tag	p.K901*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.K901*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	901	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGCAGGCCGAAAGCCTGCCCG	0.662																																																0			6											27	22	24					6																	31599151		1508	2708	4216	31707130	SO:0001587	stop_gained	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2701A>T	6.37:g.31599151A>T	ENSP00000365201:p.Lys901*		31707130	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	A	42	9.189508	0.99094	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	.	.	.	4.93	4.93	0.64822	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.8942	13.6907	0.62544	1.0:0.0:0.0:0.0	.	.	.	.	X	901;890;901;901;126	.	ENSP00000365175:K901X	K	+	1	0	PRRC2A	31707130	0.640000	0.27243	0.998000	0.56505	0.813000	0.45954	3.732000	0.55021	2.074000	0.62210	0.459000	0.35465	AAG		0.662	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		T	31599151	A	T	31599151	4	4	152	1	0	0	0	0	0	1	0	0	1319	15	1	5	2759	5	BAT2	6	31599151	Nonsense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	13970071	31599151	139515916	42	8411											
TNXB	7148	genome.wustl.edu	37	6	32012919	32012919	+	Silent	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:32012919G>A	ENST00000375244.3	-	32	10992	c.10791C>T	c.(10789-10791)ccC>ccT	p.P3597P	TNXB_ENST00000375247.2_Silent_p.P3595P|TNXB_ENST00000451343.1_Silent_p.P26P			P22105	TENX_HUMAN	tenascin XB	3642					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCAAGGCCTGGGGCTGCCCGT	0.627																																																0			6											58	50	53					6																	32012919		1507	2706	4213	32120897	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10791C>T	6.37:g.32012919G>A			32120897	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32012919	G	A	32012919	2	1	152	1	0	0	0	0	0	0	0	1	16346	1219	43	2		2	TNXB	6	32012919	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09	413768	32012919	139102148	43	8412											
TDRD6	221400	genome.wustl.edu	37	6	46657503	46657503	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:46657503G>T	ENST00000316081.6	+	1	1638	c.1638G>T	c.(1636-1638)aaG>aaT	p.K546N	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.K546N|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	546	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGTGTCAAGTGGAAAGAAA	0.423																																																0			6											146	147	147					6																	46657503		2203	4300	6503	46765462	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1638G>T	6.37:g.46657503G>T	ENSP00000346065:p.Lys546Asn		46765462	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455516	0.43634	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09911	2.93;2.93	6.02	-5.13	0.02884	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.186341	0.56097	D	0.000033	T	0.15869	0.0382	M	0.83774	2.66	0.24621	N	0.993677	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	T	0.08700	-1.0709	10	0.33940	T	0.23	-8.6161	14.7459	0.69490	0.2344:0.0:0.6653:0.1003	.	546;546	F5H5M3;O60522	.;TDRD6_HUMAN	N	546	ENSP00000443299:K546N;ENSP00000346065:K546N	ENSP00000346065:K546N	K	+	3	2	TDRD6	46765462	0.913000	0.31002	0.880000	0.34516	0.966000	0.64601	0.110000	0.15437	-0.827000	0.04278	-0.768000	0.03414	AAG		0.423	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46657503	G	T	46657503	3	4	152	1	0	0	0	0	1	0	0	0	15734	1020	36	3	1640	3	TDRD6	6	46657503	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	14644584	46657503	124457564	44	8413											
TNFRSF21	27242	genome.wustl.edu	37	6	47254313	47254313	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:47254313T>C	ENST00000296861.2	-	2	508	c.115A>G	c.(115-117)Acc>Gcc	p.T39A		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	39					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGAGCTGTGGTGGTGCTAAGG	0.507																																																0			6											54	58	56					6																	47254313		2203	4300	6503	47362272	SO:0001583	missense	27242			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.115A>G	6.37:g.47254313T>C	ENSP00000296861:p.Thr39Ala		47362272	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315538	0.23908	.	.	ENSG00000146072	ENST00000296861	T	0.63096	-0.02	5.73	1.94	0.25998	.	0.537042	0.22971	N	0.053422	T	0.21761	0.0524	L	0.35414	1.06	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.23013	-1.0200	10	0.22706	T	0.39	.	5.1539	0.15025	0.1243:0.2197:0.0:0.6561	.	39	O75509	TNR21_HUMAN	A	39	ENSP00000296861:T39A	ENSP00000296861:T39A	T	-	1	0	TNFRSF21	47362272	0.998000	0.40836	0.315000	0.25238	0.973000	0.67179	0.574000	0.23714	0.100000	0.17581	0.456000	0.33151	ACC		0.507	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		C	47254313	T	C	47254313	3	2	152	1	0	0	0	0	1	0	0	0	16295	1696	59	4	1872	4	TNFRSF21	6	47254313	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	596810	47254313	123860754	45	8414											
FAM83B	222584	genome.wustl.edu	37	6	54804748	54804748	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:54804748G>T	ENST00000306858.7	+	5	1095	c.979G>T	c.(979-981)Gac>Tac	p.D327Y		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	327										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGGTAGACAAGACAAGATTCA	0.383																																																0			6											77	78	78					6																	54804748		2203	4300	6503	54912707	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.979G>T	6.37:g.54804748G>T	ENSP00000304078:p.Asp327Tyr		54912707	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289585	0.59976	.	.	ENSG00000168143	ENST00000306858	T	0.10288	2.89	5.42	5.42	0.78866	.	0.134198	0.51477	D	0.000088	T	0.27697	0.0681	M	0.73598	2.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.69307	0.963	T	0.02037	-1.1225	10	0.87932	D	0	-26.391	19.5755	0.95441	0.0:0.0:1.0:0.0	.	327	Q5T0W9	FA83B_HUMAN	Y	327	ENSP00000304078:D327Y	ENSP00000304078:D327Y	D	+	1	0	FAM83B	54912707	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	5.579000	0.67457	2.700000	0.92200	0.585000	0.79938	GAC		0.383	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		T	54804748	G	T	54804748	3	4	152	1	0	0	0	0	1	0	0	0	5634	942	33	3	993	3	FAM83B	6	54804748	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	7550435	54804748	116310319	46	8415											
IMPG1	3617	genome.wustl.edu	37	6	76715085	76715085	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:76715085C>G	ENST00000369950.3	-	10	1243	c.1054G>C	c.(1054-1056)Gct>Cct	p.A352P	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGGTCTGTAGCTGTGAGATAG	0.423																																					Pancreas(37;839 1141 2599 26037)											0			6											215	186	196					6																	76715085		2203	4300	6503	76771805	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1054G>C	6.37:g.76715085C>G	ENSP00000358966:p.Ala352Pro		76771805		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693268	0.30052	.	.	ENSG00000112706	ENST00000369950	T	0.21734	1.99	5.83	-1.07	0.09968	.	0.764374	0.12121	N	0.497637	T	0.12008	0.0292	L	0.56769	1.78	0.09310	N	1	P	0.52692	0.955	P	0.52710	0.707	T	0.07986	-1.0744	10	0.42905	T	0.14	.	3.38	0.07251	0.1158:0.5214:0.1021:0.2607	.	352	Q17R60	IMPG1_HUMAN	P	352	ENSP00000358966:A352P	ENSP00000358966:A352P	A	-	1	0	IMPG1	76771805	0.015000	0.18098	0.007000	0.13788	0.020000	0.10135	0.051000	0.14141	-0.094000	0.12374	0.591000	0.81541	GCT		0.423	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		G	76715085	C	G	76715085	3	3	152	1	0	0	0	0	1	0	0	0	7728	797	28	3	1371	3	IMPG1	6	76715085	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	21910337	76715085	94399982	47	8416											
HS3ST5	222537	genome.wustl.edu	37	6	114378544	114378544	+	Silent	SNP	C	C	T	rs143401516		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:114378544C>T	ENST00000312719.5	-	5	2106	c.918G>A	c.(916-918)gcG>gcA	p.A306A	RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.A306A|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	306					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CCTTGCTGCCCGCCAGGCACT	0.398													C|||	1	0.000199681	0	0	5008	,	,		18154	0		0.001	False		,,,				2504	0															0			6						C		0,4406		0,0,2203	58	62	61		918	2.7	1	6	dbSNP_134	61	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	HS3ST5	NM_153612.3		0,9,6494	TT,TC,CC		0.1047,0.0,0.0692		306/347	114378544	9,12997	2203	4300	6503	114485237	SO:0001819	synonymous_variant	222537			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.918G>A	6.37:g.114378544C>T			114485237	A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	CCDS34517.1																																																																																				0.398	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		T	114378544	C	T	114378544	2	4	152	1	0	0	0	0	0	0	0	1	7368	639	23	1		1	HS3ST5	6	114378544	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	37663459	114378544	56736523	48	8417											
SAMD3	154075	genome.wustl.edu	37	6	130536361	130536361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:130536361C>A	ENST00000368134.2	-	5	666	c.58G>T	c.(58-60)Gag>Tag	p.E20*	SAMD3_ENST00000457563.2_Nonsense_Mutation_p.E44*|SAMD3_ENST00000439090.2_Nonsense_Mutation_p.E20*|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Nonsense_Mutation_p.E20*|SAMD3_ENST00000437477.2_Nonsense_Mutation_p.E20*|SAMD3_ENST00000532763.1_Nonsense_Mutation_p.E20*	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	20	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGAACTAGCTCTCCTAAATTT	0.393																																																0			6											101	101	101					6																	130536361		2203	4300	6503	130578054	SO:0001587	stop_gained	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.58G>T	6.37:g.130536361C>A	ENSP00000357116:p.Glu20*		130578054	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Nonsense_Mutation	SNP	ENST00000368134.2	37	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	38	7.032559	0.98017	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.4605	0.90736	0.0:1.0:0.0:0.0	.	.	.	.	X	20;44;20;20;20;20;20;20;20	.	ENSP00000324874:E20X	E	-	1	0	SAMD3	130578054	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.038000	0.64177	2.800000	0.96347	0.643000	0.83706	GAG		0.393	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		A	130536361	C	A	130536361	4	1	152	1	0	0	0	0	0	1	0	0	13823	922	32	3	1560	3	SAMD3	6	130536361	Nonsense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	16157817	130536361	40578706	49	8418											
LPA	4018	genome.wustl.edu	37	6	161027642	161027642	+	Silent	SNP	A	A	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr6:161027642A>C	ENST00000316300.5	-	17	2696	c.2652T>G	c.(2650-2652)ccT>ccG	p.P884P	LPA_ENST00000447678.1_Silent_p.P884P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3392	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TATAACAATAAGGGGCTGCCA	0.522																																																0			6											127	131	130					6																	161027642		2095	4272	6367	160947632	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2652T>G	6.37:g.161027642A>C			160947632	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		C	161027642	A	C	161027642	2	2	152	1	0	0	0	0	0	0	0	1	8903	59	3	5		5	LPA	6	161027642	Silent	SNP	A	TCGA-13-2057-01A-02D-1526-09	30491281	161027642	10087425	50	8419											
GHRHR	2692	genome.wustl.edu	37	7	31008682	31008682	+	Silent	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr7:31008682C>T	ENST00000326139.2	+	3	211	c.165C>T	c.(163-165)tgC>tgT	p.C55C	GHRHR_ENST00000409904.3_5'Flank|GHRHR_ENST00000409316.1_5'Flank	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	55					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	ATCCAGGCTGCCCTGCGACCT	0.607																																																0			7											21	21	21					7																	31008682		2201	4295	6496	30975207	SO:0001819	synonymous_variant	2692				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.165C>T	7.37:g.31008682C>T			30975207	Q99863	Silent	SNP	ENST00000326139.2	37	CCDS5432.1																																																																																				0.607	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			T	31008682	C	T	31008682	2	4	152	1	0	0	0	0	0	0	0	1	6373	747	26	2		2	GHRHR	7	31008682	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09		31008682	128129981	51	8420											
TRIM50	135892	genome.wustl.edu	37	7	72727266	72727266	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr7:72727266C>T	ENST00000333149.2	-	7	1315	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	TRIM50_ENST00000453152.1_Missense_Mutation_p.R372H	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	372	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTTGCCCTTACGGCTGGCTGT	0.692																																																0			7											17	18	17					7																	72727266		2201	4298	6499	72365202	SO:0001583	missense	135892			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19017	protein-coding gene	gene with protein product		612548	"tripartite motif-containing 50A", "tripartite motif-containing 50"	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.1115G>A	7.37:g.72727266C>T	ENSP00000327994:p.Arg372His		72365202	Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767423	0.90020	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.68765	-0.35;-0.35	4.62	4.62	0.57501	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000011	D	0.83815	0.5336	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86618	0.1877	10	0.66056	D	0.02	.	16.5525	0.84476	0.0:1.0:0.0:0.0	.	371;372	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	H	372	ENSP00000327994:R372H;ENSP00000413875:R372H	ENSP00000327994:R372H	R	-	2	0	TRIM50	72365202	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	7.609000	0.82925	2.573000	0.86826	0.561000	0.74099	CGT		0.692	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		T	72727266	C	T	72727266	3	4	152	1	0	0	0	0	1	0	0	0	16526	536	19	1	352	1	TRIM50	7	72727266	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	41718584	72727266	86411397	52	8421											
DTX2	113878	genome.wustl.edu	37	7	76134842	76134842	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr7:76134842A>T	ENST00000324432.5	+	12	2303	c.1793A>T	c.(1792-1794)gAc>gTc	p.D598V	DTX2_ENST00000307569.8_Missense_Mutation_p.D551V|DTX2_ENST00000446820.2_Missense_Mutation_p.D551V|DTX2_ENST00000446600.1_Missense_Mutation_p.D507V|DTX2_ENST00000413936.2_Missense_Mutation_p.D598V|DTX2_ENST00000430490.2_Missense_Mutation_p.D598V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	598					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GGCTATCCCGACCCCAACTAC	0.647																																																0			7											153	84	107					7																	76134842		2201	4298	6499	75972778	SO:0001583	missense	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1793A>T	7.37:g.76134842A>T	ENSP00000322885:p.Asp598Val		75972778	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	18.17	3.563371	0.65651	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	H	0.95539	3.685	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;1.0;0.999	D	0.86249	0.1648	10	0.87932	D	0	-37.0012	14.2506	0.66016	1.0:0.0:0.0:0.0	.	507;229;551;598	F5GX89;Q6P2H0;Q86UW9-2;Q86UW9	.;.;.;DTX2_HUMAN	V	598;551;507;507;598;598;551	ENSP00000322885:D598V;ENSP00000305242:D551V;ENSP00000397648:D507V;ENSP00000390218:D598V;ENSP00000411986:D598V;ENSP00000392545:D551V	ENSP00000305242:D551V	D	+	2	0	AC005522.1	75972778	1.000000	0.71417	0.989000	0.46669	0.235000	0.25334	9.087000	0.94110	2.151000	0.67156	0.529000	0.55759	GAC		0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			T	76134842	A	T	76134842	3	4	152	1	0	0	0	0	1	0	0	0	4794	275	10	5	1827	5	DTX2	7	76134842	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	3407576	76134842	83003821	53	8422											
COPS6	10980	genome.wustl.edu	37	7	99689372	99689372	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr7:99689372G>A	ENST00000303904.3	+	10	981	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA|MIR106B_ENST00000385301.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.R314Q	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	315	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTCTACGACCGACAAGGCATC	0.547											OREG0018195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			7											148	127	134					7																	99689372		2203	4300	6503	99527308	SO:0001583	missense	10980			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.944G>A	7.37:g.99689372G>A	ENSP00000304102:p.Arg315Gln	1345	99527308	A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144861	0.77888	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.48201	0.82;0.82	5.14	4.26	0.50523	.	0.070743	0.56097	D	0.000022	T	0.69424	0.3109	M	0.85542	2.76	0.54753	D	0.999985	D	0.89917	1.0	D	0.76575	0.988	T	0.74699	-0.3577	10	0.87932	D	0	-3.4225	11.4866	0.50356	0.0866:0.0:0.9134:0.0	.	315	Q7L5N1	CSN6_HUMAN	Q	315;314	ENSP00000304102:R315Q;ENSP00000400617:R314Q	ENSP00000304102:R315Q	R	+	2	0	COPS6	99527308	1.000000	0.71417	0.997000	0.53966	0.624000	0.37722	8.162000	0.89657	1.537000	0.49254	0.655000	0.94253	CGA		0.547	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		A	99689372	G	A	99689372	3	1	152	1	0	0	0	0	1	0	0	0	3737	1058	37	1	982	1	COPS6	7	99689372	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	23554530	99689372	59449291	54	8423											
LRRN3	54674	genome.wustl.edu	37	7	110762876	110762876	+	Silent	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr7:110762876C>T	ENST00000422987.3	+	2	879	c.48C>T	c.(46-48)atC>atT	p.I16I	IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Silent_p.I16I|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Silent_p.I16I|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	16					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GCCTAGCTATCACTACACTAG	0.423																																																0			7											127	113	117					7																	110762876		2203	4300	6503	110550112	SO:0001819	synonymous_variant	54674			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.48C>T	7.37:g.110762876C>T			110550112	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	CCDS5754.1																																																																																				0.423	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		T	110762876	C	T	110762876	2	4	152	1	0	0	0	0	0	0	0	1	9036	816	29	2		2	LRRN3	7	110762876	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	11073504	110762876	48375787	55	8424											
ESYT2	57488	genome.wustl.edu	37	7	158526938	158526938	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr7:158526938T>A	ENST00000251527.5	-	22	2707	c.2642A>T	c.(2641-2643)gAc>gTc	p.D881V	ESYT2_ENST00000435514.2_Missense_Mutation_p.D316V	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	909	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCCGTGAGGTCATACCTGAG	0.572																																																0			7											94	63	73					7																	158526938		2203	4300	6503	158219699	SO:0001583	missense	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2642A>T	7.37:g.158526938T>A	ENSP00000251527:p.Asp881Val		158219699	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705214	0.68615	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514	T;T;T	0.09817	2.94;2.94;2.94	5.91	5.91	0.95273	C2 calcium/lipid-binding domain, CaLB (1);	0.102278	0.64402	D	0.000003	T	0.24431	0.0592	L	0.47716	1.5	0.80722	D	1	D;P	0.57571	0.98;0.586	P;P	0.60682	0.878;0.72	T	0.00194	-1.1933	10	0.52906	T	0.07	-26.7655	15.5295	0.75942	0.0:0.0:0.0:1.0	.	881;909	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	V	881;930;872;316	ENSP00000251527:D881V;ENSP00000275418:D872V;ENSP00000411488:D316V	ENSP00000251527:D881V	D	-	2	0	ESYT2	158219699	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.997000	0.70646	2.267000	0.75376	0.533000	0.62120	GAC		0.572	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		A	158526938	T	A	158526938	3	1	152	1	0	0	0	0	1	0	0	0	5265	1667	58	5	43	5	ESYT2	7	158526938	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	47764062	158526938	611725	56	8425											
ZNF596	169270	genome.wustl.edu	37	8	195538	195538	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr8:195538G>A	ENST00000398612.1	+	6	1074	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	ZNF596_ENST00000320552.2_Missense_Mutation_p.A161T|ZNF596_ENST00000308811.4_Missense_Mutation_p.A231T	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATGTGGGAAAGCCTTTACTCA	0.423																																																0			8											79	75	77					8																	195538		2203	4300	6503	185538	SO:0001583	missense	169270			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"Zinc fingers, C2H2-type", "-"	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.691G>A	8.37:g.195538G>A	ENSP00000381613:p.Ala231Thr		185538	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	11.29	1.595372	0.28445	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.36157	1.27;1.27;1.27	2.63	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25494	0.0620	L	0.35593	1.075	0.22489	N	0.999055	B	0.31026	0.304	B	0.33196	0.159	T	0.20371	-1.0277	9	0.25751	T	0.34	.	7.2401	0.26092	0.0:0.0:0.4722:0.5278	.	231	Q8TC21	ZN596_HUMAN	T	231;161;231	ENSP00000310033:A231T;ENSP00000318719:A161T;ENSP00000381613:A231T	ENSP00000310033:A231T	A	+	1	0	ZNF596	185538	0.000000	0.05858	0.910000	0.35882	0.869000	0.49853	-0.222000	0.09190	0.649000	0.30751	0.591000	0.81541	GCC		0.423	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		A	195538	G	A	195538	3	1	152	1	0	0	0	0	1	0	0	0	18026	971	34	2	709	2	ZNF596	8	195538	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09		195538	146168484	57	8426											
PIWIL2	55124	genome.wustl.edu	37	8	22212974	22212974	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr8:22212974C>G	ENST00000454009.2	+	23	3387	c.2878C>G	c.(2878-2880)Cat>Gat	p.H960D	PIWIL2_ENST00000521356.1_Missense_Mutation_p.H924D|PIWIL2_ENST00000356766.6_Missense_Mutation_p.H960D	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	960					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CATCTTGCATCATGAACCAGC	0.532																																																0			8											135	108	117					8																	22212974		2203	4300	6503	22268919	SO:0001583	missense	55124			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2878C>G	8.37:g.22212974C>G	ENSP00000406956:p.His960Asp		22268919	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664649	0.29604	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.13538	2.58;2.58;2.58	5.76	5.76	0.90799	Ribonuclease H-like (1);	0.271316	0.42548	D	0.000700	T	0.07052	0.0179	N	0.02539	-0.55	0.37940	D	0.932292	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.41680	-0.9495	10	0.21014	T	0.42	-21.8153	18.7434	0.91782	0.0:1.0:0.0:0.0	.	924;960	E7ECA4;Q8TC59	.;PIWL2_HUMAN	D	960;924;960	ENSP00000349208:H960D;ENSP00000428267:H924D;ENSP00000406956:H960D	ENSP00000349208:H960D	H	+	1	0	PIWIL2	22268919	0.997000	0.39634	1.000000	0.80357	0.814000	0.46013	1.660000	0.37397	2.718000	0.92993	0.650000	0.86243	CAT		0.532	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			G	22212974	C	G	22212974	3	3	152	1	0	0	0	0	1	0	0	0	11958	826	29	3	2964	3	PIWIL2	8	22212974	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	22017436	22212974	124151048	58	8427											
SNTG1	54212	genome.wustl.edu	37	8	51351155	51351155	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr8:51351155T>C	ENST00000522124.1	+	5	876	c.215T>C	c.(214-216)aTa>aCa	p.I72T	SNTG1_ENST00000518864.1_Missense_Mutation_p.I72T|SNTG1_ENST00000517473.1_Missense_Mutation_p.I72T|SNTG1_ENST00000276467.5_Missense_Mutation_p.I72T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	72	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGATTAAGCATAAAGGTAGCC	0.378																																																0			8											98	81	87					8																	51351155		2202	4300	6502	51513708	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.215T>C	8.37:g.51351155T>C	ENSP00000429842:p.Ile72Thr		51513708	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535790	0.64972	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.38	4.38	0.52667	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	H	0.96080	3.765	0.80722	D	1	D;B	0.58620	0.983;0.157	P;B	0.55011	0.766;0.229	T	0.79070	-0.1954	10	0.87932	D	0	.	10.0094	0.41977	0.0:0.0:0.0:1.0	.	72;72	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	T	72	ENSP00000429276:I72T;ENSP00000429842:I72T;ENSP00000431123:I72T;ENSP00000429363:I72T;ENSP00000276467:I72T	ENSP00000276467:I72T	I	+	2	0	SNTG1	51513708	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	4.263000	0.58853	1.621000	0.50320	0.528000	0.53228	ATA		0.378	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			C	51351155	T	C	51351155	3	2	152	1	0	0	0	0	1	0	0	0	14877	1406	49	4	225	4	SNTG1	8	51351155	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	29138181	51351155	95012867	59	8428											
DECR1	1666	genome.wustl.edu	37	8	91057177	91057177	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr8:91057177T>G	ENST00000220764.2	+	8	927	c.839T>G	c.(838-840)cTt>cGt	p.L280R	DECR1_ENST00000522161.1_Missense_Mutation_p.L271R	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	280					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTCGCAAATCTTGCTGCTTTC	0.448																																																0			8											194	169	178					8																	91057177		2203	4300	6503	91126353	SO:0001583	missense	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.839T>G	8.37:g.91057177T>G	ENSP00000220764:p.Leu280Arg		91126353	B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846024	0.91277	.	.	ENSG00000104325	ENST00000220764;ENST00000522161	T;T	0.24723	1.84;1.84	5.9	5.9	0.94986	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79063	-0.1957	10	0.87932	D	0	.	16.3291	0.83001	0.0:0.0:0.0:1.0	.	271;280	B7Z6B8;Q16698	.;DECR_HUMAN	R	280;271	ENSP00000220764:L280R;ENSP00000429779:L271R	ENSP00000220764:L280R	L	+	2	0	DECR1	91126353	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.608000	0.82898	2.257000	0.74773	0.528000	0.53228	CTT		0.448	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			G	91057177	T	G	91057177	3	3	152	1	0	0	0	0	1	0	0	0	4382	1609	56	5	869	5	DECR1	8	91057177	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	39706022	91057177	55306845	60	8429											
ZNF623	9831	genome.wustl.edu	37	8	144732524	144732524	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr8:144732524G>T	ENST00000501748.2	+	1	571	c.482G>T	c.(481-483)gGc>gTc	p.G161V	ZNF623_ENST00000458270.2_Missense_Mutation_p.G121V|ZNF623_ENST00000526926.1_Missense_Mutation_p.G121V	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	161					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAAGGCTTTGGCCAGAGCTCA	0.478																																																0			8											93	76	82					8																	144732524		2203	4300	6503	144803667	SO:0001583	missense	9831			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.482G>T	8.37:g.144732524G>T	ENSP00000445979:p.Gly161Val		144803667	A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043959	0.36085	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.03982	3.74;3.74;3.74	3.8	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	N	0.16037	0.36	0.09310	N	1	B	0.23990	0.095	B	0.29077	0.098	T	0.35574	-0.9783	9	0.62326	D	0.03	-3.5918	6.1878	0.20508	0.0:0.2029:0.5879:0.2091	.	161	O75123	ZN623_HUMAN	V	121;121;121;161;161	ENSP00000435232:G121V;ENSP00000411139:G121V;ENSP00000445979:G161V	ENSP00000330358:G121V	G	+	2	0	ZNF623	144803667	0.000000	0.05858	0.119000	0.21687	0.990000	0.78478	-0.607000	0.05648	2.132000	0.65825	0.655000	0.94253	GGC		0.478	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		T	144732524	G	T	144732524	3	4	152	1	0	0	0	0	1	0	0	0	18047	1203	42	3	484	3	ZNF623	8	144732524	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	53675347	144732524	1631498	61	8430											
GLIS3	169792	genome.wustl.edu	37	9	4117803	4117803	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:4117803T>A	ENST00000324333.10	-	3	1403	c.1210A>T	c.(1210-1212)Aga>Tga	p.R404*	GLIS3_ENST00000381971.3_Nonsense_Mutation_p.R559*	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	404					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAGTGGACTCTCATGTGGATC	0.562																																																0			9											169	159	162					9																	4117803		2203	4300	6503	4107803	SO:0001587	stop_gained	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1210A>T	9.37:g.4117803T>A	ENSP00000325494:p.Arg404*		4107803	B1AL19|Q1PHK5	Nonsense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	T	37	6.545672	0.97654	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	.	.	.	5.7	-1.31	0.09230	.	0.000000	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7889	0.91965	0.0:0.0:0.7094:0.2906	.	.	.	.	X	404;559	.	ENSP00000325494:R404X	R	-	1	2	GLIS3	4107803	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	1.064000	0.30579	-0.466000	0.06943	-0.313000	0.08912	AGA		0.562	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		A	4117803	T	A	4117803	4	1	152	1	0	0	0	0	0	1	0	0	6447	1559	54	5	1149	5	GLIS3	9	4117803	Nonsense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09		4117803	137095628	62	8431											
PPAPDC2	403313	genome.wustl.edu	37	9	4663126	4663126	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:4663126G>A	ENST00000381883.2	+	1	829	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000223517.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	251						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CCTATCCAGGGTCATGCTGGG	0.572																																					Melanoma(187;1057 3809 8526)											0			9											140	111	121					9																	4663126		2203	4300	6503	4653126	SO:0001583	missense	403313			AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"polyisoprenoid diphosphate phosphatase type 1"	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.751G>A	9.37:g.4663126G>A	ENSP00000371307:p.Val251Ile		4653126	B3KY05|Q5JVJ6|Q8NCK9	Missense_Mutation	SNP	ENST00000381883.2	37	CCDS34981.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284983	0.80803	.	.	ENSG00000205808	ENST00000381883;ENST00000537542	T	0.75154	-0.91	5.55	4.66	0.58398	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	U	0.000001	T	0.64864	0.2637	L	0.35854	1.095	0.58432	D	0.999996	B	0.23442	0.085	B	0.25506	0.061	T	0.61372	-0.7076	10	0.34782	T	0.22	-37.9984	12.2652	0.54674	0.0811:0.0:0.9189:0.0	.	251	Q8IY26	PPAC2_HUMAN	I	251;160	ENSP00000371307:V251I	ENSP00000371307:V251I	V	+	1	0	PPAPDC2	4653126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.207000	0.72159	1.587000	0.49959	0.655000	0.94253	GTC		0.572	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		A	4663126	G	A	4663126	3	1	152	1	0	0	0	0	1	0	0	0	12295	1261	44	2	753	2	PPAPDC2	9	4663126	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	545323	4663126	136550305	63	8432											
GLDC	2731	genome.wustl.edu	37	9	6536105	6536105	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:6536105T>A	ENST00000321612.6	-	23	2947	c.2797A>T	c.(2797-2799)Att>Ttt	p.I933F		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	933					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CCCTCCTCAATGTCAGCAATT	0.537																																																0			9											69	60	63					9																	6536105		2203	4300	6503	6526105	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2797A>T	9.37:g.6536105T>A	ENSP00000370737:p.Ile933Phe		6526105	Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.847838	0.91277	.	.	ENSG00000178445	ENST00000321612	D	0.84298	-1.83	5.33	5.33	0.75918	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	M	0.91406	3.205	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.94993	0.8136	10	0.87932	D	0	-17.9232	15.6066	0.76679	0.0:0.0:0.0:1.0	.	933	P23378	GCSP_HUMAN	F	933	ENSP00000370737:I933F	ENSP00000370737:I933F	I	-	1	0	GLDC	6526105	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.889000	0.69766	2.142000	0.66516	0.374000	0.22700	ATT		0.537	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		A	6536105	T	A	6536105	3	1	152	1	0	0	0	0	1	0	0	0	6433	1464	51	5	277	5	GLDC	9	6536105	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	1872979	6536105	134677326	64	8433											
CREB3	7094	genome.wustl.edu	37	9	35733472	35733472	+	5'Flank	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:35733472C>G	ENST00000314888.9	-	0	0				CREB3_ENST00000486056.1_3'UTR|TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000353704.2_Missense_Mutation_p.P142R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAGACACTTCCTCTCACTAAG	0.403																																																0			9											79	72	74					9																	35733472		2203	4300	6503	35723472	SO:0001631	upstream_gene_variant	10488			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733472C>G	Exception_encountered		35723472	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899249	0.91962	.	.	ENSG00000107175	ENST00000353704	D	0.85171	-1.95	4.88	4.88	0.63580	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92979	0.6404	10	0.87932	D	0	.	16.9791	0.86322	0.0:1.0:0.0:0.0	.	166;142	O43889;O43889-2	CREB3_HUMAN;.	R	142	ENSP00000342136:P142R	ENSP00000342136:P142R	P	+	2	0	CREB3	35723472	1.000000	0.71417	0.999000	0.59377	0.814000	0.46013	6.294000	0.72738	2.433000	0.82419	0.650000	0.86243	CCT		0.403	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		G	35733472	C	G	35733472	1	3	152	0	1	0	0	0	0	0	0	0	3855	681	24	3		3	CREB3	9	35733472	5'Flank	SNP	C	TCGA-13-2057-01A-02D-1526-09	29197367	35733472	105479959	65	8434											
PHF2	5253	genome.wustl.edu	37	9	96439081	96439081	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:96439081C>T	ENST00000359246.4	+	21	3405	c.3038C>T	c.(3037-3039)cCg>cTg	p.P1013L	PHF2_ENST00000375376.4_Missense_Mutation_p.P244L	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	1013	Ser/Thr-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAGAGCCCCCGCCTGAGTCG	0.726																																																0			9											30	28	29					9																	96439081		2128	4154	6282	95478902	SO:0001583	missense	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.3038C>T	9.37:g.96439081C>T	ENSP00000352185:p.Pro1013Leu		95478902	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	C	8.898	0.955665	0.18507	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.17213	2.3;2.29	5.18	0.598	0.17512	.	0.454821	0.17648	N	0.166783	T	0.06917	0.0176	N	0.08118	0	0.33100	D	0.539092	B	0.06786	0.001	B	0.04013	0.001	T	0.11251	-1.0595	10	0.49607	T	0.09	-3.398	3.5256	0.07759	0.3119:0.3308:0.0:0.3572	.	1013	O75151	PHF2_HUMAN	L	1013;244	ENSP00000352185:P1013L;ENSP00000364525:P244L	ENSP00000352185:P1013L	P	+	2	0	PHF2	95478902	0.147000	0.22687	0.288000	0.24862	0.294000	0.27393	0.670000	0.25157	0.173000	0.19788	0.650000	0.86243	CCG		0.726	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		T	96439081	C	T	96439081	3	4	152	1	0	0	0	0	1	0	0	0	11830	652	23	1	3120	1	PHF2	9	96439081	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	60705609	96439081	44774350	66	8435											
HEMGN	55363	genome.wustl.edu	37	9	100692514	100692514	+	Missense_Mutation	SNP	G	G	A	rs201229826		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:100692514G>A	ENST00000259456.3	-	4	1306	c.1163C>T	c.(1162-1164)aCa>aTa	p.T388I		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	388					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AAGCTGGGATGTTTCTTGGTA	0.378																																																0			9											178	190	186					9																	100692514		2203	4300	6503	99732335	SO:0001583	missense	55363			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.1163C>T	9.37:g.100692514G>A	ENSP00000259456:p.Thr388Ile		99732335	Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188703	0.38609	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.32	2.45	0.29901	.	0.685951	0.11881	U	0.520528	T	0.28962	0.0719	L	0.53249	1.67	0.24758	N	0.992944	P	0.37955	0.612	B	0.35470	0.203	T	0.11743	-1.0575	9	0.30078	T	0.28	-0.2622	6.0847	0.19960	0.2302:0.0:0.7698:0.0	.	388	Q9BXL5	HEMGN_HUMAN	I	388	.	ENSP00000259456:T388I	T	-	2	0	HEMGN	99732335	0.010000	0.17322	0.906000	0.35671	0.352000	0.29268	-0.105000	0.10907	1.170000	0.42753	0.655000	0.94253	ACA		0.378	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		A	100692514	G	A	100692514	3	1	152	1	0	0	0	0	1	0	0	0	7050	1377	48	2	299	2	HEMGN	9	100692514	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	4253433	100692514	40520917	67	8436											
ZNF462	58499	genome.wustl.edu	37	9	109685767	109685767	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:109685767G>T	ENST00000277225.5	+	2	392	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	ZNF462_ENST00000457913.1_Missense_Mutation_p.D35Y|RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.D35Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	35					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCAGCCAACTGATGTTGCTGA	0.478																																																0			9											236	213	221					9																	109685767		2203	4300	6503	108725588	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.103G>T	9.37:g.109685767G>T	ENSP00000277225:p.Asp35Tyr		108725588	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029385	0.54790	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.10288	2.89;3.35	5.93	5.93	0.95920	.	0.047288	0.85682	D	0.000000	T	0.24160	0.0585	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.00773	-1.1572	10	0.87932	D	0	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	35	Q96JM2	ZN462_HUMAN	Y	35	ENSP00000277225:D35Y;ENSP00000414570:D35Y	ENSP00000277225:D35Y	D	+	1	0	ZNF462	108725588	1.000000	0.71417	0.976000	0.42696	0.900000	0.52787	9.434000	0.97515	2.815000	0.96918	0.561000	0.74099	GAT		0.478	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		T	109685767	G	T	109685767	3	4	152	1	0	0	0	0	1	0	0	0	17926	1290	45	3	105	3	ZNF462	9	109685767	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	8993253	109685767	31527664	68	8437											
TNC	3371	genome.wustl.edu	37	9	117826306	117826306	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:117826306C>G	ENST00000350763.4	-	12	3940	c.3529G>C	c.(3529-3531)Ggc>Cgc	p.G1177R	TNC_ENST00000341037.4_Missense_Mutation_p.G1177R|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.G1177R|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1177	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCATCCCAGCCCACCTCGGCC	0.517																																																0			9											107	113	111					9																	117826306		2203	4300	6503	116866127	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3529G>C	9.37:g.117826306C>G	ENSP00000265131:p.Gly1177Arg		116866127	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110943	0.56398	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.04862	3.54;3.54;3.54	5.78	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.239355	0.35903	N	0.002912	T	0.15349	0.0370	M	0.68593	2.085	0.80722	D	1	D;P	0.53151	0.958;0.775	P;P	0.58266	0.836;0.606	T	0.00084	-1.2099	10	0.54805	T	0.06	.	6.2747	0.20973	0.0:0.6568:0.1742:0.1691	.	1177;1177	E9PC84;P24821	.;TENA_HUMAN	R	1177	ENSP00000265131:G1177R;ENSP00000339553:G1177R;ENSP00000411406:G1177R	ENSP00000339553:G1177R	G	-	1	0	TNC	116866127	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.093000	0.30939	2.740000	0.93945	0.655000	0.94253	GGC		0.517	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		G	117826306	C	G	117826306	3	3	152	1	0	0	0	0	1	0	0	0	16270	623	22	3	3144	3	TNC	9	117826306	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	8140539	117826306	23387125	69	8438											
NACC2	138151	genome.wustl.edu	37	9	138903816	138903816	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:138903816G>T	ENST00000371753.1	-	5	1368	c.1310C>A	c.(1309-1311)gCc>gAc	p.A437D	NACC2_ENST00000277554.2_Missense_Mutation_p.A437D			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	437	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CATGTCCGCGGCGATCACGTT	0.647																																																0			9											44	37	39					9																	138903816		2201	4297	6498	138043637	SO:0001583	missense	138151			BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1310C>A	9.37:g.138903816G>T	ENSP00000360818:p.Ala437Asp		138043637		Missense_Mutation	SNP	ENST00000371753.1	37	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093357	0.94149	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.46819	0.86;0.86	5.23	5.23	0.72850	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63019	-0.6730	10	0.87932	D	0	.	17.7707	0.88491	0.0:0.0:1.0:0.0	.	437	Q96BF6	NACC2_HUMAN	D	437	ENSP00000360818:A437D;ENSP00000277554:A437D	ENSP00000277554:A437D	A	-	2	0	NACC2	138043637	1.000000	0.71417	0.498000	0.27564	0.925000	0.55904	9.611000	0.98342	2.432000	0.82394	0.313000	0.20887	GCC		0.647	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653		T	138903816	G	T	138903816	3	4	152	1	0	0	0	0	1	0	0	0	10136	1203	42	3	457	3	NACC2	9	138903816	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	21077510	138903816	2309615	70	8439											
EHMT1	79813	genome.wustl.edu	37	9	140707940	140707940	+	Silent	SNP	G	G	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr9:140707940G>C	ENST00000460843.1	+	21	3165	c.3138G>C	c.(3136-3138)gtG>gtC	p.V1046V		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1046					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGAACTGCGTGACGTCCCCCA	0.572																																																0			9											143	91	109					9																	140707940		2203	4300	6503	139827761	SO:0001819	synonymous_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3138G>C	9.37:g.140707940G>C			139827761	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	CCDS7050.2																																																																																				0.572	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		C	140707940	G	C	140707940	2	2	152	1	0	0	0	0	0	0	0	1	4983	1277	45	3		3	EHMT1	9	140707940	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09	1804124	140707940	505491	71	8440											
NSUN6	221078	genome.wustl.edu	37	10	18940111	18940111	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr10:18940111A>G	ENST00000377304.4	-	1	440	c.22T>C	c.(22-24)Tct>Cct	p.S8P	RP11-139J15.7_ENST00000606425.1_Intron	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	8							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGTCTCAAAGATATCTTAGGG	0.318																																																0			10											94	95	95					10																	18940111		2202	4300	6502	18980117	SO:0001583	missense	221078			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.22T>C	10.37:g.18940111A>G	ENSP00000366519:p.Ser8Pro		18980117	B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748515	0.49257	.	.	ENSG00000241058	ENST00000377304	T	0.32988	1.43	5.32	1.22	0.21188	.	0.317235	0.36703	N	0.002446	T	0.25494	0.0620	M	0.72118	2.19	0.42430	D	0.992673	P	0.43169	0.8	B	0.35470	0.203	T	0.05194	-1.0900	10	0.40728	T	0.16	.	7.2107	0.25931	0.4778:0.4436:0.0786:0.0	.	8	Q8TEA1	NSUN6_HUMAN	P	8	ENSP00000366519:S8P	ENSP00000366519:S8P	S	-	1	0	NSUN6	18980117	0.495000	0.26051	0.983000	0.44433	0.939000	0.58152	0.322000	0.19576	0.360000	0.24265	0.533000	0.62120	TCT		0.318	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		G	18940111	A	G	18940111	3	3	152	1	0	0	0	0	1	0	0	0	10682	333	12	4	1431	4	NSUN6	10	18940111	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09		18940111	116594636	72	8441											
MLLT10	8028	genome.wustl.edu	37	10	22016812	22016812	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr10:22016812A>T	ENST00000307729.7	+	16	2196	c.2018A>T	c.(2017-2019)aAc>aTc	p.N673I	MLLT10_ENST00000377059.3_Missense_Mutation_p.N673I|MLLT10_ENST00000377072.3_Missense_Mutation_p.N689I|MLLT10_ENST00000446906.2_Missense_Mutation_p.N673I			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	673	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATAGCCGCAACCTAGTTGGC	0.433			T	"MLL, PICALM, CDK6"	AL																																		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0			10											62	60	61					10																	22016812		2203	4300	6503	22056818	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2018A>T	10.37:g.22016812A>T	ENSP00000307411:p.Asn673Ile		22056818	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172448	0.38315	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.82	3.97	0.46021	.	0.129392	0.64402	D	0.000001	T	0.07458	0.0188	N	0.22421	0.69	0.35219	D	0.77587	D;B;B;B	0.53151	0.958;0.437;0.036;0.437	P;B;B;B	0.45506	0.483;0.143;0.063;0.143	T	0.31364	-0.9946	10	0.56958	D	0.05	.	9.054	0.36394	0.291:0.0:0.709:0.0	.	368;673;673;689	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	I	689;673;673;508;673;332;331	ENSP00000366272:N689I;ENSP00000401406:N673I;ENSP00000307411:N673I;ENSP00000366258:N673I	ENSP00000307411:N673I	N	+	2	0	MLLT10	22056818	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	3.128000	0.50492	0.783000	0.33636	-0.248000	0.11899	AAC		0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			T	22016812	A	T	22016812	3	4	152	1	0	0	0	0	1	0	0	0	9626	43	2	5	2128	5	MLLT10	10	22016812	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	3076701	22016812	113517935	73	8442											
OR10A3	26496	genome.wustl.edu	37	11	7960143	7960143	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:7960143C>A	ENST00000360759.3	-	1	998	c.925G>T	c.(925-927)Gtg>Ttg	p.V309L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	309					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTAAAATCACTTTTCTTCGC	0.393																																																0			11											107	102	104					11																	7960143		2201	4296	6497	7916719	SO:0001583	missense	26496			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.925G>T	11.37:g.7960143C>A	ENSP00000353988:p.Val309Leu		7916719	B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	C	0.669	-0.802554	0.02841	.	.	ENSG00000170683	ENST00000360759	T	0.35789	1.29	4.65	1.56	0.23342	.	0.420193	0.17266	U	0.180572	T	0.11452	0.0279	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.32666	-0.9898	10	0.02654	T	1	.	3.8144	0.08809	0.272:0.5326:0.0:0.1954	.	309	P58181	O10A3_HUMAN	L	309	ENSP00000353988:V309L	ENSP00000353988:V309L	V	-	1	0	OR10A3	7916719	0.097000	0.21791	0.052000	0.19188	0.010000	0.07245	0.191000	0.17076	0.698000	0.31739	-0.237000	0.12165	GTG		0.393	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		A	7960143	C	A	7960143	3	1	152	1	0	0	0	0	1	0	0	0	10891	565	20	3	22	3	OR10A3	11	7960143	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09		7960143	127046373	74	8443											
USH1C	10083	genome.wustl.edu	37	11	17530977	17530977	+	Intron	SNP	A	A	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:17530977A>G	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.W647R|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTGCCTCCCAGTCCTCCACT	0.597																																																0			11											88	77	81					11																	17530977		2200	4293	6493	17487553	SO:0001627	intron_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7450T>C	11.37:g.17530977A>G			17487553	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747260	0.30955	.	.	ENSG00000006611	ENST00000005226	T	0.37915	1.17	5.99	3.7	0.42460	.	0.517672	0.21961	N	0.066583	T	0.25901	0.0631	.	.	.	0.26530	N	0.974275	B	0.02656	0.0	B	0.06405	0.002	T	0.15752	-1.0426	9	0.40728	T	0.16	.	8.5659	0.33538	0.8478:0.0:0.1522:0.0	.	647	Q7RTU8	.	R	647	ENSP00000005226:W647R	ENSP00000005226:W647R	W	-	1	0	USH1C	17487553	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.791000	0.47829	0.532000	0.28657	0.529000	0.55759	TGG		0.597	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		G	17530977	A	G	17530977	1	3	152	0	1	0	0	0	0	0	0	0	17034	188	7	4		4	USH1C	11	17530977	Intron	SNP	A	TCGA-13-2057-01A-02D-1526-09	9570834	17530977	117475539	75	8444											
OR4X2	119764	genome.wustl.edu	37	11	48267487	48267487	+	Missense_Mutation	SNP	A	A	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:48267487A>C	ENST00000302329.3	+	1	880	c.832A>C	c.(832-834)Atc>Ctc	p.I278L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GAACCCTGTCATCTACTCTCT	0.473																																																0			11											108	99	102					11																	48267487		2201	4298	6499	48224063	SO:0001583	missense	119764			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.832A>C	11.37:g.48267487A>C	ENSP00000307751:p.Ile278Leu		48224063	B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	a	19.60	3.858769	0.71834	.	.	ENSG00000172208	ENST00000302329	T	0.51817	0.69	5.47	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.111576	0.39759	N	0.001267	T	0.65821	0.2728	M	0.81239	2.535	0.24577	N	0.993894	D	0.67145	0.996	D	0.77557	0.99	T	0.58306	-0.7659	10	0.87932	D	0	.	8.4574	0.32908	0.839:0.0:0.161:0.0	.	278	Q8NGF9	OR4X2_HUMAN	L	278	ENSP00000307751:I278L	ENSP00000307751:I278L	I	+	1	0	OR4X2	48224063	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	5.698000	0.68302	0.376000	0.24707	-0.266000	0.10368	ATC		0.473	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		C	48267487	A	C	48267487	3	2	152	1	0	0	0	0	1	0	0	0	11085	217	8	5	834	5	OR4X2	11	48267487	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	30736510	48267487	86739029	76	8445											
OR8H3	390152	genome.wustl.edu	37	11	55890079	55890079	+	Silent	SNP	C	C	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:55890079C>A	ENST00000313472.3	+	1	231	c.231C>A	c.(229-231)gtC>gtA	p.V77V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTCAACTGTCGTCACACCTA	0.448																																																0			11											275	272	273					11																	55890079		2201	4293	6494	55646655	SO:0001819	synonymous_variant	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.231C>A	11.37:g.55890079C>A			55646655	Q6IFB7	Silent	SNP	ENST00000313472.3	37	CCDS31519.1																																																																																				0.448	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		A	55890079	C	A	55890079	2	1	152	1	0	0	0	0	0	0	0	1	11239	871	31	3		3	OR8H3	11	55890079	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	7622592	55890079	79116437	77	8446											
OR8H1	219469	genome.wustl.edu	37	11	56058513	56058513	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:56058513A>G	ENST00000313022.2	-	1	53	c.26T>C	c.(25-27)gTg>gCg	p.V9A		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAAGTCAGGCACATTTGTGTT	0.373																																																0			11											95	90	92					11																	56058513		2201	4296	6497	55815089	SO:0001583	missense	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.26T>C	11.37:g.56058513A>G	ENSP00000323595:p.Val9Ala		55815089	B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178907	0.38511	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00892	5.57	3.77	2.58	0.30949	.	0.492159	0.17239	N	0.181633	T	0.01940	0.0061	M	0.66939	2.045	0.09310	N	1	P	0.38167	0.621	B	0.42653	0.394	T	0.33929	-0.9849	10	0.62326	D	0.03	.	9.1763	0.37114	0.8307:0.0:0.0:0.1692	.	9	Q8NGG4	OR8H1_HUMAN	A	9;5	ENSP00000323595:V9A	ENSP00000323595:V9A	V	-	2	0	OR8H1	55815089	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.429000	0.21412	0.545000	0.28902	0.472000	0.43445	GTG		0.373	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		G	56058513	A	G	56058513	3	3	152	1	0	0	0	0	1	0	0	0	11237	159	6	4	911	4	OR8H1	11	56058513	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	168434	56058513	78948003	78	8447											
TMX2	51075	genome.wustl.edu	37	11	57505439	57505439	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:57505439C>G	ENST00000278422.4	+	3	317	c.305C>G	c.(304-306)aCa>aGa	p.T102R	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	102					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GTGGCCAACACAATTCTTTTC	0.423																																																0			11											165	151	156					11																	57505439		2201	4296	6497	57262015	SO:0001583	missense	51075			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.305C>G	11.37:g.57505439C>G	ENSP00000278422:p.Thr102Arg		57262015	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111777	0.37242	.	.	ENSG00000213593	ENST00000278422	.	.	.	6.16	5.26	0.73747	.	0.207707	0.40728	U	0.001024	T	0.31263	0.0791	N	0.22421	0.69	0.09310	N	0.999999	B	0.17038	0.02	B	0.21151	0.033	T	0.28138	-1.0053	9	0.59425	D	0.04	-10.3584	12.3186	0.54971	0.0:0.8633:0.0:0.1367	.	102	Q9Y320	TMX2_HUMAN	R	102	.	ENSP00000278422:T102R	T	+	2	0	TMX2	57262015	0.049000	0.20398	0.071000	0.20095	0.979000	0.70002	1.045000	0.30341	1.621000	0.50320	0.650000	0.86243	ACA		0.423	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		G	57505439	C	G	57505439	3	3	152	1	0	0	0	0	1	0	0	0	16267	478	17	3	315	3	TMX2	11	57505439	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	1446926	57505439	77501077	79	8448											
GLYATL1	92292	genome.wustl.edu	37	11	58723114	58723114	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:58723114G>T	ENST00000317391.4	+	8	863	c.523G>T	c.(523-525)Gat>Tat	p.D175Y	GLYATL1_ENST00000300079.5_Missense_Mutation_p.D206Y|RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	175						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGCCCAGCTGGATGTCTCTTA	0.458																																																0			11											70	68	69					11																	58723114		2201	4295	6496	58479690	SO:0001583	missense	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.523G>T	11.37:g.58723114G>T	ENSP00000322223:p.Asp175Tyr		58479690	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	11.62	1.693032	0.30052	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.20598	2.06;2.06	2.77	1.8	0.24995	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.536026	0.16714	U	0.202550	T	0.27241	0.0668	M	0.67569	2.06	0.09310	N	1	P;B	0.35821	0.523;0.31	B;B	0.43783	0.424;0.431	T	0.18116	-1.0347	10	0.87932	D	0	.	6.4405	0.21847	0.0:0.0:0.7092:0.2908	.	206;175	Q969I3-2;Q969I3	.;GLYL1_HUMAN	Y	152;175;206	ENSP00000322223:D175Y;ENSP00000300079:D206Y	ENSP00000300079:D206Y	D	+	1	0	GLYATL1	58479690	0.119000	0.22226	0.005000	0.12908	0.010000	0.07245	2.187000	0.42602	0.314000	0.23086	0.411000	0.27672	GAT		0.458	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		T	58723114	G	T	58723114	3	4	152	1	0	0	0	0	1	0	0	0	6480	1174	41	3	642	3	GLYATL1	11	58723114	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	1217675	58723114	76283402	80	8449											
SLC22A9	114571	genome.wustl.edu	37	11	63137867	63137867	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:63137867G>T	ENST00000279178.3	+	1	588	c.339G>T	c.(337-339)atG>atT	p.M113I	SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	113					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACGCAGACATGGAGCCCTGTG	0.522																																																0			11											126	105	112					11																	63137867		2201	4298	6499	62894443	SO:0001583	missense	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.339G>T	11.37:g.63137867G>T	ENSP00000279178:p.Met113Ile		62894443	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	g	4.591	0.109847	0.08780	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.62639	0.57;0.01	3.3	-3.6	0.04570	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.397771	0.26265	N	0.025364	T	0.31389	0.0795	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14839	-1.0458	10	0.56958	D	0.05	.	10.4064	0.44260	0.7628:0.0:0.2372:0.0	.	113	Q8IVM8	S22A9_HUMAN	I	113	ENSP00000311527:M113I;ENSP00000279178:M113I	ENSP00000279178:M113I	M	+	3	0	SLC22A9	62894443	0.000000	0.05858	0.572000	0.28498	0.107000	0.19398	-3.863000	0.00347	-0.924000	0.03780	0.134000	0.15878	ATG		0.522	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		T	63137867	G	T	63137867	3	4	152	1	0	0	0	0	1	0	0	0	14464	1348	47	3	341	3	SLC22A9	11	63137867	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	4414753	63137867	71868649	81	8450											
C11orf30	56946	genome.wustl.edu	37	11	76257032	76257032	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:76257032G>T	ENST00000529032.1	+	19	3465	c.3465G>T	c.(3463-3465)atG>atT	p.M1155I	C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.M1156I|C11orf30_ENST00000525038.1_Missense_Mutation_p.M1156I|C11orf30_ENST00000524767.1_Missense_Mutation_p.M1170I|C11orf30_ENST00000533248.1_Missense_Mutation_p.M1064I|C11orf30_ENST00000334736.3_Missense_Mutation_p.M1155I|C11orf30_ENST00000524490.1_Missense_Mutation_p.M1057I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1155					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TGTCTTTGATGGAAGCTCAGA	0.448																																																0			11											100	94	96					11																	76257032		2200	4292	6492	75934680	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3465G>T	11.37:g.76257032G>T	ENSP00000432327:p.Met1155Ile		75934680	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.621036|2.621036	0.46736|0.46736	.|.	.|.	ENSG00000158636|ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032|ENST00000531793	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.038550|.	0.85682|.	D|.	0.000000|.	T|T	0.55955|0.55955	0.1953|0.1953	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.30281|.	0.275;0.007;0.007;0.017;0.007;0.017|.	B;B;B;B;B;B|.	0.29785|.	0.107;0.01;0.01;0.009;0.006;0.009|.	T|T	0.48980|0.48980	-0.8986|-0.8986	9|5	0.09590|.	T|.	0.72|.	-10.8083|-10.8083	19.3464|19.3464	0.94365|0.94365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1064;1156;1170;1156;1057;1155|.	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589|.	.;.;.;.;.;EMSY_HUMAN|.	I|L	1057;1155;837;1170;1064;1156;1156;1155|14	.|.	ENSP00000334130:M1155I|.	M|W	+|+	3|2	0|0	C11orf30|C11orf30	75934680|75934680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.823000|8.823000	0.92018|0.92018	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	ATG|TGG		0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		T	76257032	G	T	76257032	3	4	152	1	0	0	0	0	1	0	0	0	1636	1348	47	3	3539	3	C11orf30	11	76257032	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	13119165	76257032	58749484	82	8451											
CCDC90B	60492	genome.wustl.edu	37	11	82972977	82972977	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:82972977C>G	ENST00000529689.1	-	9	1175	c.741G>C	c.(739-741)ttG>ttC	p.L247F	CCDC90B_ENST00000525503.1_Missense_Mutation_p.L146F|CCDC90B_ENST00000529611.1_Missense_Mutation_p.L146F|CCDC90B_ENST00000455220.2_Missense_Mutation_p.L238F|CCDC90B_ENST00000525504.1_5'UTR|CCDC90B_ENST00000529073.1_3'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	247						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TATAAAATCCCAATGCTATTG	0.373																																																0			11											138	150	146					11																	82972977		2203	4300	6503	82650625	SO:0001583	missense	60492			BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.741G>C	11.37:g.82972977C>G	ENSP00000434724:p.Leu247Phe		82650625	A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	ENST00000529689.1	37	CCDS8266.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551212	0.86127	.	.	ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.39	5.39	0.77823	.	0.071068	0.56097	D	0.000026	D	0.82536	0.5058	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77004	0.956;0.989	D	0.85711	0.1319	9	.	.	.	-3.4065	15.8681	0.79080	0.0:1.0:0.0:0.0	.	238;247	Q9GZT6-2;Q9GZT6	.;CC90B_HUMAN	F	247;238;146;146	ENSP00000434724:L247F;ENSP00000390990:L238F;ENSP00000431424:L146F;ENSP00000431345:L146F	.	L	-	3	2	CCDC90B	82650625	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.817000	0.62650	2.538000	0.85594	0.655000	0.94253	TTG		0.373	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	NM_021825		G	82972977	C	G	82972977	3	3	152	1	0	0	0	0	1	0	0	0	2869	593	21	3	27	3	CCDC90B	11	82972977	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	6715945	82972977	52033539	83	8452											
SORL1	6653	genome.wustl.edu	37	11	121348939	121348939	+	Missense_Mutation	SNP	C	C	G	rs201798962		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr11:121348939C>G	ENST00000260197.7	+	3	644	c.515C>G	c.(514-516)gCg>gGg	p.A172G	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	172					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACAGCCCTGCGGACAACAAG	0.488																																																0			11											76	64	68					11																	121348939		2203	4299	6502	120854149	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.515C>G	11.37:g.121348939C>G	ENSP00000260197:p.Ala172Gly		120854149	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551387	0.65311	.	.	ENSG00000137642	ENST00000260197	T	0.30714	1.52	5.39	4.48	0.54585	VPS10 (1);	0.407399	0.26297	N	0.025188	T	0.31544	0.0800	L	0.54323	1.7	0.80722	D	1	P	0.42941	0.794	B	0.40534	0.332	T	0.07083	-1.0791	10	0.42905	T	0.14	.	13.7947	0.63164	0.0:0.9266:0.0:0.0734	.	172	Q92673	SORL_HUMAN	G	172	ENSP00000260197:A172G	ENSP00000260197:A172G	A	+	2	0	SORL1	120854149	0.979000	0.34478	0.571000	0.28486	0.988000	0.76386	2.534000	0.45676	1.273000	0.44346	0.551000	0.68910	GCG		0.488	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		G	121348939	C	G	121348939	3	3	152	1	0	0	0	0	1	0	0	0	14937	768	27	3	525	3	SORL1	11	121348939	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	38375962	121348939	13657577	84	8453											
PCBP2	5094	genome.wustl.edu	37	12	53861067	53861067	+	Silent	SNP	C	C	T	rs75582496	byFrequency	TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr12:53861067C>T	ENST00000439930.3	+	10	811	c.789C>T	c.(787-789)acC>acT	p.T263T	PCBP2_ENST00000359462.5_Silent_p.T263T|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Silent_p.T259T|PCBP2_ENST00000455667.3_Silent_p.T228T|PCBP2_ENST00000359282.5_Silent_p.T228T|PCBP2_ENST00000541275.1_Silent_p.T259T|PCBP2_ENST00000549863.1_Silent_p.T218T|PCBP2_ENST00000447282.1_Silent_p.T232T|PCBP2_ENST00000548933.1_Silent_p.T232T|PCBP2_ENST00000603815.1_Silent_p.T263T|PCBP2_ENST00000552819.1_Silent_p.T232T|PCBP2_ENST00000546463.1_Silent_p.T259T|PCBP2_ENST00000437231.1_Silent_p.T228T			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	263					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATGGCAACACCGGATTCAGTG	0.458													C|||	10	0.00199681	0.0076	0	5008	,	,		20944	0		0	False		,,,				2504	0															0			12						C	,,,,,,	16,4390	23.3+/-48.9	0,16,2187	166	141	150		684,789,777,696,684,789,777	5.7	1	12	dbSNP_132	150	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCBP2	NM_001098620.2,NM_001128911.1,NM_001128912.1,NM_001128913.1,NM_001128914.1,NM_005016.5,NM_031989.4	,,,,,,	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	,,,,,,	228/332,263/366,259/362,232/336,228/319,263/367,259/363	53861067	16,12990	2203	4300	6503	52147334	SO:0001819	synonymous_variant	5094			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.789C>T	12.37:g.53861067C>T			52147334	A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Silent	SNP	ENST00000439930.3	37	CCDS44901.1																																																																																				0.458	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		T	53861067	C	T	53861067	2	4	152	1	0	0	0	0	0	0	0	1	11501	639	23	1		1	PCBP2	12	53861067	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09		53861067	79990828	85	8454											
KIF5A	3798	genome.wustl.edu	37	12	57965903	57965903	+	Silent	SNP	A	A	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr12:57965903A>G	ENST00000455537.2	+	14	1696	c.1422A>G	c.(1420-1422)caA>caG	p.Q474Q	KIF5A_ENST00000286452.5_Silent_p.Q385Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	474					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCCACCTGCAATCAGAGAACG	0.582																																																0			12											83	74	77					12																	57965903		2202	4300	6502	56252170	SO:0001819	synonymous_variant	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1422A>G	12.37:g.57965903A>G			56252170	A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	CCDS8945.1																																																																																				0.582	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		G	57965903	A	G	57965903	2	3	152	1	0	0	0	0	0	0	0	1	8305	98	4	4		4	KIF5A	12	57965903	Silent	SNP	A	TCGA-13-2057-01A-02D-1526-09	4104836	57965903	75885992	86	8455											
GLIPR1L2	144321	genome.wustl.edu	37	12	75816702	75816702	+	Missense_Mutation	SNP	A	A	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr12:75816702A>C	ENST00000550916.1	+	4	650	c.603A>C	c.(601-603)agA>agC	p.R201S	GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.R94S|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.R136S|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.T167P|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.R201S|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.T167P	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	201						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TGACGAGAAGACCTTATGAAC	0.299																																																0			12											151	147	148					12																	75816702		2203	4300	6503	74102969	SO:0001583	missense	144321			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.603A>C	12.37:g.75816702A>C	ENSP00000448248:p.Arg201Ser		74102969	Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	CCDS58258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.09|12.09	1.833019|1.833019	0.32421|0.32421	.|.	.|.	ENSG00000180481|ENSG00000180481	ENST00000550916;ENST00000378692;ENST00000320460;ENST00000441218|ENST00000435775;ENST00000547164	T;T;T;T|T;T	0.09445|0.18657	2.98;2.98;2.98;2.98|2.2;2.2	4.99|4.99	-2.16|-2.16	0.07080|0.07080	CAP domain (2);|.	0.436409|.	0.23263|.	N|.	0.050115|.	T|T	0.17704|0.17704	0.0425|0.0425	L|L	0.40543|0.40543	1.245|1.245	0.29568|0.29568	N|N	0.850133|0.850133	B;B|.	0.28208|.	0.079;0.203|.	B;B|.	0.29176|.	0.055;0.099|.	T|T	0.34825|0.34825	-0.9813|-0.9813	10|7	0.56958|0.87932	D|D	0.05|0	.|.	3.5144|3.5144	0.07719|0.07719	0.318:0.0:0.4008:0.2812|0.318:0.0:0.4008:0.2812	.|.	201;201|.	Q4G1C9;Q4G1C9-2|.	GRPL2_HUMAN;.|.	S|P	201;94;201;136|167	ENSP00000448248:R201S;ENSP00000367963:R94S;ENSP00000317385:R201S;ENSP00000405273:R136S|ENSP00000398328:T167P;ENSP00000447980:T167P	ENSP00000317385:R201S|ENSP00000398328:T167P	R|T	+|+	3|1	2|0	GLIPR1L2|GLIPR1L2	74102969|74102969	0.967000|0.967000	0.33354|0.33354	0.945000|0.945000	0.38365|0.38365	0.004000|0.004000	0.04260|0.04260	-0.251000|-0.251000	0.08818|0.08818	-0.425000|-0.425000	0.07371|0.07371	-0.263000|-0.263000	0.10527|0.10527	AGA|ACC		0.299	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		C	75816702	A	C	75816702	3	2	152	1	0	0	0	0	1	0	0	0	6443	272	10	5	617	5	GLIPR1L2	12	75816702	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	17850799	75816702	58035193	87	8456											
ACSS3	79611	genome.wustl.edu	37	12	81647107	81647107	+	Missense_Mutation	SNP	G	G	C	rs182895257		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr12:81647107G>C	ENST00000548058.1	+	14	2651	c.1741G>C	c.(1741-1743)Gtg>Ctg	p.V581L	ACSS3_ENST00000548324.1_Missense_Mutation_p.V263L|ACSS3_ENST00000261206.3_Missense_Mutation_p.V580L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	581						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCATGGTACCGTGGCAGACTG	0.378																																																0			12											228	221	223					12																	81647107		2203	4300	6503	80171238	SO:0001583	missense	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1741G>C	12.37:g.81647107G>C	ENSP00000449535:p.Val581Leu		80171238	Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501777	0.64298	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.71817	-0.6;-0.6;-0.6	6.0	6.0	0.97389	AMP-dependent synthetase/ligase (1);	0.127074	0.51477	N	0.000089	D	0.86818	0.6024	M	0.91406	3.205	0.58432	D	0.999996	B;D	0.57257	0.048;0.979	B;P	0.59056	0.023;0.851	D	0.88456	0.3052	10	0.72032	D	0.01	-18.1396	20.5555	0.99287	0.0:0.0:1.0:0.0	.	263;581	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	L	581;580;263	ENSP00000449535:V581L;ENSP00000261206:V580L;ENSP00000448965:V263L	ENSP00000261206:V580L	V	+	1	0	ACSS3	80171238	1.000000	0.71417	0.429000	0.26710	0.976000	0.68499	7.342000	0.79310	2.864000	0.98301	0.551000	0.68910	GTG		0.378	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		C	81647107	G	C	81647107	3	2	152	1	0	0	0	0	1	0	0	0	190	1145	40	3	1795	3	ACSS3	12	81647107	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	5830405	81647107	52204788	88	8457											
NT5DC3	51559	genome.wustl.edu	37	12	104171610	104171610	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr12:104171610C>A	ENST00000392876.3	-	14	1684	c.1644G>T	c.(1642-1644)aaG>aaT	p.K548N		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	548						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CCCTTGGCTACTTGGCCTGGG	0.567																																																0			12											52	57	56					12																	104171610		2203	4300	6503	102695740	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1644G>T	12.37:g.104171610C>A	ENSP00000376615:p.Lys548Asn		102695740	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483083	0.44147	.	.	ENSG00000111696	ENST00000392876	T	0.24350	1.86	5.8	3.97	0.46021	.	0.451004	0.23937	N	0.043089	T	0.12135	0.0295	N	0.08118	0	0.24481	N	0.994344	B	0.20671	0.047	B	0.16289	0.015	T	0.16837	-1.0389	10	0.87932	D	0	.	5.8623	0.18754	0.0:0.6671:0.16:0.1728	.	548	Q86UY8	NT5D3_HUMAN	N	548	ENSP00000376615:K548N	ENSP00000376615:K548N	K	-	3	2	NT5DC3	102695740	0.996000	0.38824	0.997000	0.53966	0.727000	0.41649	0.955000	0.29188	0.785000	0.33685	0.655000	0.94253	AAG		0.567	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		A	104171610	C	A	104171610	3	1	152	1	0	0	0	0	1	0	0	0	10692	564	20	3	6	3	NT5DC3	12	104171610	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	22524503	104171610	29680285	89	8458											
ATXN2	6311	genome.wustl.edu	37	12	111923092	111923092	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr12:111923092G>T	ENST00000377617.3	-	18	3142	c.2981C>A	c.(2980-2982)gCc>gAc	p.A994D	ATXN2_ENST00000542287.2_Missense_Mutation_p.A729D|AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000535949.1_Missense_Mutation_p.A705D|ATXN2_ENST00000608853.1_Missense_Mutation_p.A834D|ATXN2_ENST00000389153.4_Missense_Mutation_p.A729D|ATXN2_ENST00000550104.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	994	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ATATGTCTTGGCTTGATTCAC	0.348																																																0			12											226	210	216					12																	111923092		2203	4300	6503	110407475	SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2981C>A	12.37:g.111923092G>T	ENSP00000366843:p.Ala994Asp		110407475	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703456	0.88924	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000542287;ENST00000535949	T	0.66638	-0.22	5.78	5.78	0.91487	.	0.105837	0.64402	D	0.000003	T	0.69314	0.3097	N	0.22421	0.69	0.80722	D	1	D;P;D;P	0.58268	0.979;0.816;0.982;0.952	P;B;P;P	0.57324	0.63;0.382;0.818;0.677	T	0.68021	-0.5519	10	0.38643	T	0.18	-9.3315	19.9987	0.97401	0.0:0.0:1.0:0.0	.	994;705;729;729	Q99700;Q24JQ7;F8VQP2;F8WB06	ATX2_HUMAN;.;.;.	D	47;729;994;729;705	ENSP00000366843:A994D	ENSP00000366843:A994D	A	-	2	0	ATXN2	110407475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.738000	0.93877	0.591000	0.81541	GCC		0.348	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		T	111923092	G	T	111923092	3	4	152	1	0	0	0	0	1	0	0	0	1211	1203	42	3	992	3	ATXN2	12	111923092	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	7751482	111923092	21928803	90	8459											
PTPN11	5781	genome.wustl.edu	37	12	112926907	112926907	+	Silent	SNP	A	A	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr12:112926907A>T	ENST00000351677.2	+	13	1725	c.1527A>T	c.(1525-1527)gcA>gcT	p.A509A		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	513	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AGACAGAAGCACAGTACCGAT	0.493			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																														Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0			12											182	171	174					12																	112926907		2203	4300	6503	111411290	SO:0001819	synonymous_variant	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1527A>T	12.37:g.112926907A>T			111411290	A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	CCDS9163.1																																																																																				0.493	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			T	112926907	A	T	112926907	2	4	152	1	0	0	0	0	0	0	0	1	12783	146	6	5		5	PTPN11	12	112926907	Silent	SNP	A	TCGA-13-2057-01A-02D-1526-09	1003815	112926907	20924988	91	8460											
RFC5	5985	genome.wustl.edu	37	12	118456889	118456889	+	Silent	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr12:118456889C>T	ENST00000454402.2	+	2	196	c.78C>T	c.(76-78)taC>taT	p.Y26Y	RFC5_ENST00000229043.3_5'UTR|RFC5_ENST00000392542.2_Silent_p.Y5Y	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	26					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGAAAAATACCGGCCACAGA	0.388																																																0			12											102	97	99					12																	118456889		2203	4300	6503	116941272	SO:0001819	synonymous_variant	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.78C>T	12.37:g.118456889C>T			116941272	A8MZ62|B3KSX8	Silent	SNP	ENST00000454402.2	37	CCDS9185.1																																																																																				0.388	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		T	118456889	C	T	118456889	2	4	152	1	0	0	0	0	0	0	0	1	13251	518	18	2		2	RFC5	12	118456889	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	5529982	118456889	15395006	92	8461											
SPPL3	121665	genome.wustl.edu	37	12	121202821	121202821	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr12:121202821G>A	ENST00000353487.2	-	11	1639	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	380	Poly-Ser.					Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGGAATCGGGAGCTGCTGGA	0.502																																																0			12											75	67	70					12																	121202821		2203	4300	6503	119687204	SO:0001583	missense	121665				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.1136C>T	12.37:g.121202821G>A	ENSP00000288680:p.Ser379Phe		119687204	Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	37	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742959	0.89573	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.18960	2.18	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.62723	1.935	0.80722	D	1	P;P	0.51653	0.859;0.947	B;B	0.43360	0.417;0.355	T	0.07539	-1.0767	10	0.66056	D	0.02	-13.7053	19.8195	0.96586	0.0:0.0:1.0:0.0	.	380;379	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	F	379;378	ENSP00000288680:S379F	ENSP00000288680:S379F	S	-	2	0	AC069214.1	119687204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.756000	0.94617	0.655000	0.94253	TCC		0.502	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		A	121202821	G	A	121202821	3	1	152	1	0	0	0	0	1	0	0	0	15092	1174	41	2	22	2	SPPL3	12	121202821	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	2745932	121202821	12649074	93	8462											
FGF9	2254	genome.wustl.edu	37	13	22275396	22275396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr13:22275396C>A	ENST00000382353.5	+	3	979	c.449C>A	c.(448-450)tCa>tAa	p.S150*	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	150					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ACGTACTCATCAAACCTATAT	0.408																																					Melanoma(195;1939 2127 12623 13963 52730)											0			13											98	87	90					13																	22275396		2203	4300	6503	21173396	SO:0001587	stop_gained	2254			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"Endogenous ligands"	3687	protein-coding gene	gene with protein product	"glia-activating factor"	600921	"fibroblast growth factor 9 (glia-activating factor)"			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.449C>A	13.37:g.22275396C>A	ENSP00000371790:p.Ser150*		21173396	A8K427|Q3SY32	Nonsense_Mutation	SNP	ENST00000382353.5	37	CCDS9298.1	.	.	.	.	.	.	.	.	.	.	C	40	7.994819	0.98599	.	.	ENSG00000102678	ENST00000382353	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5023	0.95100	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000371790:S150X	S	+	2	0	FGF9	21173396	1.000000	0.71417	0.888000	0.34837	0.885000	0.51271	7.487000	0.81328	2.605000	0.88082	0.591000	0.81541	TCA		0.408	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			A	22275396	C	A	22275396	4	1	152	1	0	0	0	0	0	1	0	0	5859	838	29	3	459	3	FGF9	13	22275396	Nonsense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09		22275396	92894482	94	8463											
WASF3	10810	genome.wustl.edu	37	13	27259836	27259836	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr13:27259836A>G	ENST00000335327.5	+	10	1541	c.1363A>G	c.(1363-1365)Aaa>Gaa	p.K455E	WASF3_ENST00000361042.4_Missense_Mutation_p.K452E	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	455	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AATTCAACTGAAAAAGGTGCA	0.507																																																0			13											107	94	98					13																	27259836		2203	4300	6503	26157836	SO:0001583	missense	10810			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1363A>G	13.37:g.27259836A>G	ENSP00000335055:p.Lys455Glu		26157836	O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485500	0.84854	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.70045	-0.45;-0.45	5.75	5.75	0.90469	Actin-binding WH2 (3);	0.045400	0.85682	D	0.000000	T	0.82130	0.4970	M	0.78801	2.425	0.80722	D	1	D;D	0.76494	0.999;0.989	D;P	0.81914	0.995;0.9	D	0.84574	0.0657	10	0.87932	D	0	-39.0663	16.0356	0.80625	1.0:0.0:0.0:0.0	.	452;455	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	E	452;455	ENSP00000354325:K452E;ENSP00000335055:K455E	ENSP00000335055:K455E	K	+	1	0	WASF3	26157836	1.000000	0.71417	0.988000	0.46212	0.668000	0.39293	8.855000	0.92236	2.192000	0.70111	0.459000	0.35465	AAA		0.507	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			G	27259836	A	G	27259836	3	3	152	1	0	0	0	0	1	0	0	0	17254	247	9	4	1393	4	WASF3	13	27259836	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	4984440	27259836	87910042	95	8464											
PAN3	255967	genome.wustl.edu	37	13	28834642	28834642	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr13:28834642C>G	ENST00000380958.3	+	8	1459	c.1307C>G	c.(1306-1308)cCg>cGg	p.P436R	PAN3_ENST00000282391.5_Missense_Mutation_p.P124R|PAN3_ENST00000399613.1_Missense_Mutation_p.P236R	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TATATGCAACCGAAAGCAAAC	0.403																																																0			13											168	145	152					13																	28834642		2203	4300	6503	27732642	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1307C>G	13.37:g.28834642C>G	ENSP00000370345:p.Pro436Arg		27732642		Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815718	0.70912	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.06608	3.28;3.28;3.28	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	M	0.62723	1.935	0.80722	D	1	P;B;D;D	0.89917	0.619;0.388;1.0;1.0	B;B;D;D	0.87578	0.39;0.236;0.998;0.998	T	0.00079	-1.2111	10	0.36615	T	0.2	-10.7067	19.8535	0.96748	0.0:1.0:0.0:0.0	.	436;436;124;382	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	R	436;236;124	ENSP00000370345:P436R;ENSP00000382522:P236R;ENSP00000282391:P124R	ENSP00000282391:P124R	P	+	2	0	PAN3	27732642	1.000000	0.71417	0.994000	0.49952	0.905000	0.53344	7.610000	0.82949	2.686000	0.91538	0.585000	0.79938	CCG		0.403	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		G	28834642	C	G	28834642	3	3	152	1	0	0	0	0	1	0	0	0	11415	652	23	3	1337	3	PAN3	13	28834642	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	1574806	28834642	86335236	96	8465											
GPC5	2262	genome.wustl.edu	37	13	92408650	92408650	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr13:92408650G>A	ENST00000377067.3	+	5	1628	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	419					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTTCCCTGCTGGAATGGAGAA	0.388																																																0			13											150	147	148					13																	92408650		2203	4299	6502	91206651	SO:0001587	stop_gained	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1256G>A	13.37:g.92408650G>A	ENSP00000366267:p.Trp419*		91206651	B2R726|O60436|Q9BX27	Nonsense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	38	7.240022	0.98157	.	.	ENSG00000179399	ENST00000377067	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5874	15.7506	0.77983	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000366267:W419X	W	+	2	0	GPC5	91206651	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	7.383000	0.79741	2.490000	0.84030	0.543000	0.68304	TGG		0.388	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		A	92408650	G	A	92408650	4	1	152	1	0	0	0	0	0	1	0	0	6601	1357	47	2	1274	2	GPC5	13	92408650	Nonsense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	63574008	92408650	22761228	97	8466											
ARHGEF7	8874	genome.wustl.edu	37	13	111953827	111953827	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr13:111953827G>T	ENST00000218789.5	+	20	2440	c.1943G>T	c.(1942-1944)aGt>aTt	p.S648I	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.S589I|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.S664I|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.S589I|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.S674I			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGTTTCAGGAGTCTTGTGGAT	0.408																																																0			13											309	257	275					13																	111953827		2203	4300	6503	110751828	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.1943G>T	13.37:g.111953827G>T	ENSP00000218789:p.Ser648Ile		110751828	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000218789.5	37		.	.	.	.	.	.	.	.	.	.	G	16.17	3.046702	0.55110	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.68765	-0.02;-0.35;0.0;0.0;-0.01	4.62	4.62	0.57501	.	.	.	.	.	T	0.79992	0.4542	M	0.73217	2.22	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	T	0.83200	-0.0079	9	0.87932	D	0	.	17.9048	0.88915	0.0:0.0:1.0:0.0	.	664	B7Z6G2	.	I	674;648;589;589;664	ENSP00000359657:S674I;ENSP00000218789:S648I;ENSP00000364888:S589I;ENSP00000397068:S589I;ENSP00000364889:S664I	ENSP00000218789:S648I	S	+	2	0	ARHGEF7	110751828	1.000000	0.71417	0.990000	0.47175	0.101000	0.19017	8.829000	0.92055	2.306000	0.77630	0.555000	0.69702	AGT		0.408	ARHGEF7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000045805.3	NM_001113511		T	111953827	G	T	111953827	3	4	152	1	0	0	0	0	1	0	0	0	911	1029	36	3	2601	3	ARHGEF7	13	111953827	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	19545177	111953827	3216051	98	8467											
TEP1	7011	genome.wustl.edu	37	14	20876541	20876541	+	Missense_Mutation	SNP	G	G	A	rs145064396	byFrequency	TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr14:20876541G>A	ENST00000262715.5	-	2	98	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	TEP1_ENST00000556935.1_Missense_Mutation_p.R20W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	20					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCAGGCACCGGTTCTCCAAG	0.498																																																0			14											87	83	84					14																	20876541		2203	4300	6503	19946381	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.58C>T	14.37:g.20876541G>A	ENSP00000262715:p.Arg20Trp		19946381	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891383	0.52014	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000556549	T;T;T	0.60424	0.19;0.19;0.19	4.02	2.06	0.26882	.	.	.	.	.	T	0.58235	0.2108	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.64595	0.88;0.927	T	0.57556	-0.7791	9	0.72032	D	0.01	.	8.8955	0.35460	0.0:0.0:0.5971:0.4029	.	20;20	G3V5X7;Q99973	.;TEP1_HUMAN	W	20	ENSP00000262715:R20W;ENSP00000452574:R20W;ENSP00000452240:R20W	ENSP00000262715:R20W	R	-	1	2	TEP1	19946381	0.983000	0.35010	0.958000	0.39756	0.741000	0.42261	1.077000	0.30741	0.402000	0.25451	0.305000	0.20034	CGG		0.498	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20876541	G	A	20876541	3	1	152	1	0	0	0	0	1	0	0	0	15759	1115	39	1	8041	1	TEP1	14	20876541	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09		20876541	86472999	99	8468											
SLC8A3	6547	genome.wustl.edu	37	14	70515607	70515607	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr14:70515607T>C	ENST00000381269.2	-	7	3037	c.2284A>G	c.(2284-2286)Atc>Gtc	p.I762V	SLC8A3_ENST00000216568.7_Missense_Mutation_p.I133V|SLC8A3_ENST00000533541.1_Missense_Mutation_p.I119V|SLC8A3_ENST00000357887.3_Missense_Mutation_p.I760V|SLC8A3_ENST00000356921.2_Missense_Mutation_p.I756V|SLC8A3_ENST00000394330.2_Missense_Mutation_p.I119V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.I759V|SLC8A3_ENST00000528359.1_Missense_Mutation_p.I760V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	762					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATGATGAGGATGGAGACGGCG	0.562																																																0			14											77	64	69					14																	70515607		2203	4300	6503	69585360	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2284A>G	14.37:g.70515607T>C	ENSP00000370669:p.Ile762Val		69585360	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679325	0.88542	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	T;T;T;T;T;T;T;T	0.72282	1.16;1.08;1.22;-0.64;-0.63;1.16;1.22;0.59	5.52	5.52	0.82312	.	0.056739	0.64402	D	0.000001	D	0.85221	0.5647	M	0.89478	3.035	0.80722	D	1	B;P;P;P;P;P	0.46859	0.17;0.858;0.885;0.518;0.734;0.497	B;P;P;P;P;B	0.60012	0.327;0.867;0.801;0.558;0.651;0.134	D	0.87516	0.2443	10	0.59425	D	0.04	.	15.6396	0.76984	0.0:0.0:0.0:1.0	.	119;756;762;760;759;133	F2Z391;P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;.;NAC3_HUMAN;.;.;.	V	756;762;760;133;119;759;760;119	ENSP00000349392:I756V;ENSP00000370669:I762V;ENSP00000350560:I760V;ENSP00000216568:I133V;ENSP00000377863:I119V;ENSP00000436688:I759V;ENSP00000433531:I760V;ENSP00000437103:I119V	ENSP00000216568:I133V	I	-	1	0	SLC8A3	69585360	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.977000	0.88081	2.095000	0.63458	0.374000	0.22700	ATC		0.562	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			C	70515607	T	C	70515607	3	2	152	1	0	0	0	0	1	0	0	0	14711	1464	51	4	507	4	SLC8A3	14	70515607	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	49639066	70515607	36833933	100	8469											
SEL1L	6400	genome.wustl.edu	37	14	81994074	81994074	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr14:81994074C>T	ENST00000336735.4	-	2	195	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	SEL1L_ENST00000555824.1_Missense_Mutation_p.G27S	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	27	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TCCTGGCTGCCTTCTTCATCT	0.299																																																0			14											97	89	92					14																	81994074		2203	4298	6501	81063827	SO:0001583	missense	6400				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.79G>A	14.37:g.81994074C>T	ENSP00000337053:p.Gly27Ser		81063827	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313870	0.40996	.	.	ENSG00000071537	ENST00000336735;ENST00000555824;ENST00000557372	T;T;T	0.41400	1.61;1.3;1.0	4.82	3.92	0.45320	.	0.239116	0.33217	N	0.005158	T	0.27765	0.0683	N	0.24115	0.695	0.26670	N	0.971741	B;B	0.10296	0.0;0.003	B;B	0.12156	0.001;0.007	T	0.15037	-1.0451	10	0.36615	T	0.2	.	9.7561	0.40504	0.0:0.8984:0.0:0.1016	.	27;27	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	S	27	ENSP00000337053:G27S;ENSP00000450709:G27S;ENSP00000451144:G27S	ENSP00000337053:G27S	G	-	1	0	SEL1L	81063827	0.676000	0.27567	0.962000	0.40283	0.998000	0.95712	0.751000	0.26348	1.092000	0.41356	0.585000	0.79938	GGC		0.299	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		T	81994074	C	T	81994074	3	4	152	1	0	0	0	0	1	0	0	0	14013	681	24	2	2385	2	SEL1L	14	81994074	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	11478467	81994074	25355466	101	8470											
PTPN21	11099	genome.wustl.edu	37	14	88945477	88945477	+	Silent	SNP	G	G	A	rs376146786		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr14:88945477G>A	ENST00000556564.1	-	13	2582	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D	PTPN21_ENST00000328736.3_Silent_p.D766D	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	766					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCTTCTCCGCGTCTGGGACGT	0.726																																																0			14						G		0,4400		0,0,2200	35	31	32		2298	2.1	0	14		32	1,8595		0,1,4297	no	coding-synonymous	PTPN21	NM_007039.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		766/1175	88945477	1,12995	2200	4298	6498	88015230	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2298C>T	14.37:g.88945477G>A			88015230		Silent	SNP	ENST00000556564.1	37	CCDS9884.1																																																																																				0.726	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			A	88945477	G	A	88945477	2	1	152	1	0	0	0	0	0	0	0	1	12789	1136	40	1		1	PTPN21	14	88945477	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09	6951403	88945477	18404063	102	8471											
MKRN3	7681	genome.wustl.edu	37	15	23811058	23811058	+	Silent	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr15:23811058T>C	ENST00000314520.3	+	1	605	c.129T>C	c.(127-129)gcT>gcC	p.A43A	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Silent_p.A43A|MKRN3_ENST00000564592.1_Silent_p.A43A	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	43					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AATCTGCTGCTCCAGATTCAG	0.701																																																0			15											32	36	35					15																	23811058		2202	4299	6501	21362151	SO:0001819	synonymous_variant	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.129T>C	15.37:g.23811058T>C			21362151		Silent	SNP	ENST00000314520.3	37	CCDS10013.1																																																																																				0.701	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		C	23811058	T	C	23811058	2	2	152	1	0	0	0	0	0	0	0	1	9608	1538	54	4		4	MKRN3	15	23811058	Silent	SNP	T	TCGA-13-2057-01A-02D-1526-09		23811058	78720334	103	8472											
NDN	4692	genome.wustl.edu	37	15	23931868	23931868	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr15:23931868G>A	ENST00000331837.4	-	1	582	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	166	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTTGACCAGCGCAAACTCCAT	0.632									Prader-Willi syndrome																																							0			15											28	28	28					15																	23931868		2203	4300	6503	21482961	SO:0001583	missense	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.497C>T	15.37:g.23931868G>A	ENSP00000332643:p.Ala166Val		21482961	B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327563	0.41197	.	.	ENSG00000182636	ENST00000331837	T	0.03982	3.74	4.08	3.16	0.36331	.	0.190720	0.38663	N	0.001617	T	0.02047	0.0064	N	0.04116	-0.275	0.20703	N	0.999867	B	0.12630	0.006	B	0.15484	0.013	T	0.47923	-0.9079	10	0.07990	T	0.79	.	8.2949	0.31980	0.1147:0.0:0.8853:0.0	.	166	Q99608	NECD_HUMAN	V	166	ENSP00000332643:A166V	ENSP00000332643:A166V	A	-	2	0	NDN	21482961	0.998000	0.40836	0.675000	0.29917	0.989000	0.77384	3.928000	0.56506	1.017000	0.39495	0.561000	0.74099	GCG		0.632	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		A	23931868	G	A	23931868	3	1	152	1	0	0	0	0	1	0	0	0	10247	1087	38	1	472	1	NDN	15	23931868	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	120810	23931868	78599524	104	8473											
SNURF	8926	genome.wustl.edu	37	15	25207325	25207325	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr15:25207325C>G	ENST00000577949.1	+	2	142	c.79C>G	c.(79-81)Cgc>Ggc	p.R27G	SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.R27G|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000338094.6_Missense_Mutation_p.R27G|SNURF_ENST00000338327.4_Missense_Mutation_p.R27G|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	27						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		CCAAGTCAAACGCAGAAGGAC	0.448																																																0			15											151	117	129					15																	25207325		2203	4300	6503	22758418	SO:0001583	missense	8926				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.79C>G	15.37:g.25207325C>G	ENSP00000463201:p.Arg27Gly		22758418	A6NCW2	Missense_Mutation	SNP	ENST00000577949.1	37	CCDS10016.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827784	0.32329	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.76	2.85	0.33270	.	.	.	.	.	T	0.26412	0.0645	.	.	.	0.26874	N	0.967697	B	0.16802	0.019	B	0.17433	0.018	T	0.16394	-1.0404	7	0.25106	T	0.35	-1.5756	7.291	0.26366	0.0:0.8804:0.0:0.1196	.	27	Q9Y675	SNURF_HUMAN	G	27	.	ENSP00000336543:R27G	R	+	1	0	SNURF	22758418	0.999000	0.42202	0.962000	0.40283	0.857000	0.48899	2.269000	0.43346	1.186000	0.42985	-0.136000	0.14681	CGC		0.448	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		G	25207325	C	G	25207325	3	3	152	1	0	0	0	0	1	0	0	0	14881	536	19	3	85	3	SNURF	15	25207325	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	1275457	25207325	77324067	105	8474											
SLC27A2	11001	genome.wustl.edu	37	15	50519219	50519219	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr15:50519219C>T	ENST00000267842.5	+	7	1533	c.1301C>T	c.(1300-1302)cCa>cTa	p.P434L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.P381L|SLC27A2_ENST00000544960.1_Missense_Mutation_p.P199L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	434					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CAACTTACACCATTTAATGGC	0.368																																																0			15											67	66	66					15																	50519219		2196	4295	6491	48306511	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1301C>T	15.37:g.50519219C>T	ENSP00000267842:p.Pro434Leu		48306511	A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763283	0.89932	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.39229	1.09;1.35;1.35	5.78	5.78	0.91487	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.99;0.998	T	0.68428	-0.5411	10	0.59425	D	0.04	.	17.5141	0.87768	0.0:1.0:0.0:0.0	.	381;434	Q6PF09;O14975	.;S27A2_HUMAN	L	381;434;199	ENSP00000370289:P381L;ENSP00000267842:P434L;ENSP00000444549:P199L	ENSP00000267842:P434L	P	+	2	0	SLC27A2	48306511	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.650000	0.61440	2.730000	0.93505	0.655000	0.94253	CCA		0.368	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		T	50519219	C	T	50519219	3	4	152	1	0	0	0	0	1	0	0	0	14529	594	21	2	1327	2	SLC27A2	15	50519219	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	25311894	50519219	52012173	106	8475											
MEFV	4210	genome.wustl.edu	37	16	3297177	3297177	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr16:3297177G>T	ENST00000219596.1	-	5	1465	c.1426C>A	c.(1426-1428)Caa>Aaa	p.Q476K	MEFV_ENST00000536379.1_Missense_Mutation_p.Q265K|MEFV_ENST00000339854.4_Missense_Mutation_p.Q296K|MEFV_ENST00000541159.1_Missense_Mutation_p.Q265K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	476	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.Q475fs*37(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AAATGCTCTTGCTGCTCCAGG	0.582																																																1	Deletion - Frameshift(1)	breast(1)	16											162	148	153					16																	3297177		2197	4300	6497	3237178	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1426C>A	16.37:g.3297177G>T	ENSP00000219596:p.Gln476Lys		3237178	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497154	0.44352	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.63417	-0.04;0.39;0.31;0.39	5.29	5.29	0.74685	.	0.000000	0.49305	D	0.000144	T	0.77896	0.4199	M	0.70903	2.155	0.36668	D	0.878344	D	0.69078	0.997	D	0.77004	0.989	T	0.80955	-0.1151	10	0.48119	T	0.1	-15.9605	16.4785	0.84151	0.0:0.0:1.0:0.0	.	476	O15553	MEFV_HUMAN	K	476;476;296;265;265;265	ENSP00000219596:Q476K;ENSP00000339639:Q296K;ENSP00000438711:Q265K;ENSP00000445079:Q265K	ENSP00000219596:Q476K	Q	-	1	0	MEFV	3237178	0.986000	0.35501	0.905000	0.35620	0.557000	0.35523	3.118000	0.50414	2.767000	0.95098	0.655000	0.94253	CAA		0.582	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3297177	G	T	3297177	3	4	152	1	0	0	0	0	1	0	0	0	9459	1328	46	3	943	3	MEFV	16	3297177	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09		3297177	87057576	107	8476											
PLD2	5338	genome.wustl.edu	37	17	4713274	4713274	+	Silent	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr17:4713274G>A	ENST00000263088.6	+	9	941	c.810G>A	c.(808-810)ggG>ggA	p.G270G	PLD2_ENST00000572940.1_Silent_p.G270G|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	270	PH.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TGCAAGTGGGGAAAAGGAGCA	0.602																																																0			17											143	120	128					17																	4713274		2203	4300	6503	4660238	SO:0001819	synonymous_variant	5338			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.810G>A	17.37:g.4713274G>A			4660238	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	CCDS11057.1																																																																																				0.602	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		A	4713274	G	A	4713274	2	1	152	1	0	0	0	0	0	0	0	1	12046	1161	41	2		2	PLD2	17	4713274	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09		4713274	76481936	108	8477											
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	152	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	2865132	7578406	73616804	109	8478											
MYH8	4626	genome.wustl.edu	37	17	10309462	10309462	+	Silent	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr17:10309462C>G	ENST00000403437.2	-	21	2422	c.2328G>C	c.(2326-2328)ctG>ctC	p.L776L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	776	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATTTCTTCCAGAAGACCCA	0.408									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0			17											108	104	106					17																	10309462		2203	4300	6503	10250187	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2328G>C	17.37:g.10309462C>G			10250187	Q14910	Silent	SNP	ENST00000403437.2	37	CCDS11153.1																																																																																				0.408	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		G	10309462	C	G	10309462	2	3	152	1	0	0	0	0	0	0	0	1	10041	581	21	3		3	MYH8	17	10309462	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	2731056	10309462	70885748	110	8479											
MYH1	4619	genome.wustl.edu	37	17	10398388	10398388	+	Nonsense_Mutation	SNP	C	C	A	rs141339850		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr17:10398388C>A	ENST00000226207.5	-	37	5420	c.5326G>T	c.(5326-5328)Gaa>Taa	p.E1776*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1776					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1776K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGTCCTGTTCCTTCTTCAGC	0.507																																																1	Substitution - Missense(1)	skin(1)	17											165	159	161					17																	10398388		2203	4300	6503	10339113	SO:0001587	stop_gained	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5326G>T	17.37:g.10398388C>A	ENSP00000226207:p.Glu1776*		10339113	Q14CA4|Q9Y622	Nonsense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	45	11.786167	0.99602	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.26	5.26	0.73747	.	0.000000	0.43579	U	0.000557	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.2282	0.93825	0.0:1.0:0.0:0.0	.	.	.	.	X	1776	.	ENSP00000226207:E1776X	E	-	1	0	MYH1	10339113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.748000	0.85085	2.616000	0.88540	0.561000	0.74099	GAA		0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10398388	C	A	10398388	4	1	152	1	0	0	0	0	0	1	0	0	10029	864	30	3	509	3	MYH1	17	10398388	Nonsense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	88926	10398388	70796822	111	8480											
PRPSAP2	5636	genome.wustl.edu	37	17	18769234	18769234	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr17:18769234T>G	ENST00000268835.2	+	3	371	c.88T>G	c.(88-90)Tca>Gca	p.S30A	PRPSAP2_ENST00000542013.1_Missense_Mutation_p.S30A|PRPSAP2_ENST00000536323.1_De_novo_Start_OutOfFrame|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.S30A	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	30					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CTCGAATTCATCATGTATGGA	0.333																																																0			17											85	81	82					17																	18769234		2203	4300	6503	18709959	SO:0001583	missense	5636			AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.88T>G	17.37:g.18769234T>G	ENSP00000268835:p.Ser30Ala		18709959	B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	ENST00000268835.2	37	CCDS11200.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399545	0.25291	.	.	ENSG00000141127	ENST00000441887;ENST00000395656;ENST00000414602;ENST00000419071;ENST00000432893;ENST00000431320;ENST00000455992;ENST00000412418;ENST00000419284;ENST00000268835;ENST00000422237;ENST00000542013	D;D;D;D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.81	5.81	0.92471	.	0.058911	0.64402	D	0.000001	T	0.74959	0.3785	N	0.00677	-1.265	0.80722	D	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.17979	0.01;0.009;0.02	T	0.75099	-0.3437	10	0.02654	T	1	-15.6241	15.8274	0.78725	0.0:0.0:0.0:1.0	.	30;30;30	B7ZKZ1;E7EMY2;O60256	.;.;KPRB_HUMAN	A	30	ENSP00000395127:S30A;ENSP00000416964:S30A;ENSP00000392536:S30A;ENSP00000399625:S30A;ENSP00000416021:S30A;ENSP00000402612:S30A;ENSP00000415446:S30A;ENSP00000268835:S30A;ENSP00000401144:S30A;ENSP00000439129:S30A	ENSP00000268835:S30A	S	+	1	0	PRPSAP2	18709959	1.000000	0.71417	0.873000	0.34254	0.455000	0.32408	5.823000	0.69272	2.221000	0.72209	0.383000	0.25322	TCA		0.333	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		G	18769234	T	G	18769234	3	3	152	1	0	0	0	0	1	0	0	0	12585	1435	50	5	90	5	PRPSAP2	17	18769234	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	8370846	18769234	62425976	112	8481											
HDAC5	10014	genome.wustl.edu	37	17	42188140	42188140	+	Silent	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr17:42188140C>T	ENST00000393622.2	-	3	382	c.51G>A	c.(49-51)ttG>ttA	p.L17L	HDAC5_ENST00000225983.6_Silent_p.L18L|HDAC5_ENST00000586802.1_Silent_p.L17L|HDAC5_ENST00000336057.5_Silent_p.L17L	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	17					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GCAGGATTTCCAAGGATGGTT	0.572																																																0			17											141	107	119					17																	42188140		2203	4300	6503	39543666	SO:0001819	synonymous_variant	10014			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.51G>A	17.37:g.42188140C>T			39543666	C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	CCDS45696.1																																																																																				0.572	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		T	42188140	C	T	42188140	2	4	152	1	0	0	0	0	0	0	0	1	7010	593	21	2		2	HDAC5	17	42188140	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	23418906	42188140	39007070	113	8482											
COL1A1	1277	genome.wustl.edu	37	17	48264224	48264224	+	Missense_Mutation	SNP	G	G	C	rs72656336		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr17:48264224G>C	ENST00000225964.5	-	48	3709	c.3591C>G	c.(3589-3591)gaC>gaG	p.D1197E		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1197	Nonhelical region (C-terminal).				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGAAGCTGAAGTCGAAACCAG	0.632			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0			17											67	60	62					17																	48264224		2203	4300	6503	45619223	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3591C>G	17.37:g.48264224G>C	ENSP00000225964:p.Asp1197Glu		45619223	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	8.214	0.801073	0.16397	.	.	ENSG00000108821	ENST00000225964	D	0.88975	-2.45	3.88	2.91	0.33838	.	0.061943	0.64402	D	0.000008	D	0.85261	0.5656	M	0.76838	2.35	0.47862	D	0.999531	B	0.32245	0.361	B	0.32762	0.152	T	0.78028	-0.2364	10	0.02654	T	1	.	10.6046	0.45386	0.0992:0.0:0.9008:0.0	.	1197	P02452	CO1A1_HUMAN	E	1197	ENSP00000225964:D1197E	ENSP00000225964:D1197E	D	-	3	2	COL1A1	45619223	1.000000	0.71417	0.994000	0.49952	0.077000	0.17291	1.527000	0.35975	0.828000	0.34709	-0.657000	0.03884	GAC		0.632	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			C	48264224	G	C	48264224	3	2	152	1	0	0	0	0	1	0	0	0	3677	1020	36	3	819	3	COL1A1	17	48264224	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	6076084	48264224	32930986	114	8483											
TANC2	26115	genome.wustl.edu	37	17	61498517	61498517	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr17:61498517A>G	ENST00000424789.2	+	25	5178	c.5174A>G	c.(5173-5175)tAt>tGt	p.Y1725C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Y1735C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1725					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCAGCATCCTATTACCCAGTC	0.517																																																0			17											186	190	189					17																	61498517		2102	4229	6331	58852249	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5174A>G	17.37:g.61498517A>G	ENSP00000387593:p.Tyr1725Cys		58852249	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.746611	0.49257	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.79247	-1.25;-1.24	4.79	4.79	0.61399	.	0.308380	0.31188	N	0.008083	T	0.79782	0.4505	N	0.24115	0.695	0.58432	D	0.999996	D	0.76494	0.999	D	0.74674	0.984	T	0.82242	-0.0554	10	0.66056	D	0.02	.	13.3515	0.60605	1.0:0.0:0.0:0.0	.	1725	Q9HCD6	TANC2_HUMAN	C	1735;1725	ENSP00000374171:Y1735C;ENSP00000387593:Y1725C	ENSP00000374171:Y1735C	Y	+	2	0	TANC2	58852249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.477000	0.90424	2.140000	0.66376	0.459000	0.35465	TAT		0.517	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			G	61498517	A	G	61498517	3	3	152	1	0	0	0	0	1	0	0	0	15545	449	16	4	5272	4	TANC2	17	61498517	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	13234293	61498517	19696693	115	8484											
RPTOR	57521	genome.wustl.edu	37	17	78933951	78933951	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr17:78933951G>C	ENST00000306801.3	+	30	3913	c.3551G>C	c.(3550-3552)gGc>gCc	p.G1184A	CTD-2561B21.3_ENST00000571591.1_RNA|RPTOR_ENST00000544334.2_Missense_Mutation_p.G1026A|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1184					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ATCGTGGCTGGCCTCGGTGAC	0.622																																																0			17											127	86	100					17																	78933951		2203	4300	6503	76548546	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3551G>C	17.37:g.78933951G>C	ENSP00000307272:p.Gly1184Ala		76548546	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212203	0.95069	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.35973	1.28;1.28	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	T	0.71738	-0.4502	10	0.62326	D	0.03	.	18.6796	0.91541	0.0:0.0:1.0:0.0	.	1026;1184	F5H7J5;Q8N122	.;RPTOR_HUMAN	A	1184;1026	ENSP00000307272:G1184A;ENSP00000442479:G1026A	ENSP00000307272:G1184A	G	+	2	0	RPTOR	76548546	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.225000	0.95219	2.418000	0.82041	0.462000	0.41574	GGC		0.622	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		C	78933951	G	C	78933951	3	2	152	1	0	0	0	0	1	0	0	0	13668	1203	42	3	3669	3	RPTOR	17	78933951	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	17435434	78933951	2261259	116	8485											
SALL3	27164	genome.wustl.edu	37	18	76753293	76753293	+	Silent	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr18:76753293G>A	ENST00000537592.2	+	2	1302	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	SALL3_ENST00000536229.3_Silent_p.A301A|SALL3_ENST00000575389.2_Silent_p.A434A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	434					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCGACAGCGCGCTCCAGATCC	0.622																																																0			18											27	22	24					18																	76753293		2201	4298	6499	74854281	SO:0001819	synonymous_variant	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1302G>A	18.37:g.76753293G>A			74854281	Q9UGH1	Silent	SNP	ENST00000537592.2	37	CCDS12013.1																																																																																				0.622	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		A	76753293	G	A	76753293	2	1	152	1	0	0	0	0	0	0	0	1	13815	1074	38	1		1	SALL3	18	76753293	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09		76753293	1323955	117	8486											
ADNP2	22850	genome.wustl.edu	37	18	77894081	77894081	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr18:77894081A>G	ENST00000262198.4	+	4	1240	c.785A>G	c.(784-786)aAg>aGg	p.K262R		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	262					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGACTCTTGAAGCAAACGCAC	0.458																																																0			18											69	70	70					18																	77894081		2203	4300	6503	75995072	SO:0001583	missense	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.785A>G	18.37:g.77894081A>G	ENSP00000262198:p.Lys262Arg		75995072	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925385	0.73213	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.65	4.49	0.54785	.	0.077059	0.53938	D	0.000052	T	0.39462	0.1079	L	0.29908	0.895	0.30283	N	0.791081	P	0.45715	0.865	P	0.49665	0.618	T	0.32929	-0.9888	8	.	.	.	-28.9081	11.517	0.50526	0.9306:0.0:0.0694:0.0	.	262	Q6IQ32	ADNP2_HUMAN	R	262	.	.	K	+	2	0	ADNP2	75995072	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	6.303000	0.72794	1.149000	0.42402	0.533000	0.62120	AAG		0.458	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		G	77894081	A	G	77894081	3	3	152	1	0	0	0	0	1	0	0	0	324	72	3	4	795	4	ADNP2	18	77894081	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	1140788	77894081	183167	118	8487											
ZFP14	57677	genome.wustl.edu	37	19	36831637	36831637	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr19:36831637C>G	ENST00000270001.7	-	5	1206	c.1091G>C	c.(1090-1092)gGt>gCt	p.G364A		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	364					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)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GGGTTTCTCACCAGTATGAAT	0.378																																																0			19											94	91	92					19																	36831637		2203	4300	6503	41523477	SO:0001583	missense	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1091G>C	19.37:g.36831637C>G	ENSP00000270001:p.Gly364Ala		41523477	A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	18.28	3.590098	0.66105	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26373	1.74	3.91	3.91	0.45181	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.150576	0.31404	N	0.007714	T	0.47192	0.1432	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.989	T	0.48658	-0.9016	10	0.87932	D	0	.	9.0869	0.36587	0.0:0.8935:0.0:0.1065	.	364;364	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	A	364	ENSP00000270001:G364A	ENSP00000270001:G364A	G	-	2	0	ZFP14	41523477	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	4.536000	0.60636	2.160000	0.67779	0.643000	0.83706	GGT		0.378	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		G	36831637	C	G	36831637	3	3	152	1	0	0	0	0	1	0	0	0	17639	507	18	3	514	3	ZFP14	19	36831637	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09		36831637	22297346	119	8488											
NFKBIB	4793	genome.wustl.edu	37	19	39399380	39399380	+	Missense_Mutation	SNP	G	G	T	rs141886159		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr19:39399380G>T	ENST00000313582.5	+	6	1013	c.979G>T	c.(979-981)Gac>Tac	p.D327Y	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	327					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGATGAATACGACGACATTGT	0.597																																					Pancreas(165;1492 2005 6979 7739 34483)											0			19											79	83	82					19																	39399380		2203	4300	6503	44091220	SO:0001583	missense	4793			L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.979G>T	19.37:g.39399380G>T	ENSP00000312988:p.Asp327Tyr		44091220	A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892981	0.72524	.	.	ENSG00000104825	ENST00000313582	T	0.58797	0.31	5.08	5.08	0.68730	.	0.000000	0.50627	D	0.000110	T	0.63331	0.2502	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66763	-0.5841	10	0.72032	D	0.01	-7.1572	13.836	0.63410	0.0:0.0:1.0:0.0	.	327	Q15653	IKBB_HUMAN	Y	327	ENSP00000312988:D327Y	ENSP00000312988:D327Y	D	+	1	0	NFKBIB	44091220	0.998000	0.40836	0.811000	0.32455	0.981000	0.71138	4.873000	0.63057	2.630000	0.89119	0.655000	0.94253	GAC		0.597	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		T	39399380	G	T	39399380	3	4	152	1	0	0	0	0	1	0	0	0	10378	1058	37	3	1049	3	NFKBIB	19	39399380	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	2567743	39399380	19729603	120	8489											
ARHGEF1	9138	genome.wustl.edu	37	19	42396676	42396676	+	Missense_Mutation	SNP	C	C	G	rs369826806		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr19:42396676C>G	ENST00000354532.3	+	7	518	c.370C>G	c.(370-372)Cgc>Ggc	p.R124G	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R124G|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R91G|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R139G|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R106G	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	124	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R139C(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCTGCAGACCGCACTAGGGC	0.657																																																1	Substitution - Missense(1)	endometrium(1)	19											33	35	34					19																	42396676		2203	4300	6503	47088516	SO:0001583	missense	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.370C>G	19.37:g.42396676C>G	ENSP00000346532:p.Arg124Gly		47088516	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754734	0.49362	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.32	3.19	0.36642	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.073913	0.51477	D	0.000095	D	0.89938	0.6860	M	0.66939	2.045	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.994;0.999;0.998	D	0.90089	0.4176	10	0.66056	D	0.02	-17.3333	10.9439	0.47289	0.188:0.812:0.0:0.0	.	106;139;91;124;184	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	G	124;91;160;139;106	ENSP00000346532:R124G;ENSP00000344429:R91G;ENSP00000337261:R139G;ENSP00000367394:R106G	ENSP00000323044:R160G	R	+	1	0	ARHGEF1	47088516	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	2.402000	0.44521	2.157000	0.67596	0.306000	0.20318	CGC		0.657	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		G	42396676	C	G	42396676	3	3	152	1	0	0	0	0	1	0	0	0	893	652	23	3	441	3	ARHGEF1	19	42396676	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	2997296	42396676	16732307	121	8490											
CACNG6	59285	genome.wustl.edu	37	19	54502965	54502965	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr19:54502965G>T	ENST00000252729.2	+	3	1074	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L	CACNG6_ENST00000346968.2_Intron|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	162					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		TATCATCATGGTGCTCAGTAA	0.577																																																0			19											241	210	221					19																	54502965		2203	4300	6503	59194777	SO:0001583	missense	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.484G>T	19.37:g.54502965G>T	ENSP00000252729:p.Val162Leu		59194777		Missense_Mutation	SNP	ENST00000252729.2	37	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	.	16.25	3.069012	0.55539	.	.	ENSG00000130433	ENST00000252729	T	0.67345	-0.26	4.92	3.89	0.44902	.	0.250559	0.31392	N	0.007740	T	0.57784	0.2077	L	0.36672	1.1	0.80722	D	1	P	0.42757	0.789	B	0.44224	0.444	T	0.56288	-0.8004	10	0.40728	T	0.16	-5.2134	9.3111	0.37905	0.0995:0.0:0.9005:0.0	.	162	Q9BXT2	CCG6_HUMAN	L	162	ENSP00000252729:V162L	ENSP00000252729:V162L	V	+	1	0	CACNG6	59194777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.509000	0.45459	1.211000	0.43351	0.561000	0.74099	GTG		0.577	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			T	54502965	G	T	54502965	3	4	152	1	0	0	0	0	1	0	0	0	2561	1261	44	3	494	3	CACNG6	19	54502965	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	12106289	54502965	4626018	122	8491											
LILRA4	23547	genome.wustl.edu	37	19	54849490	54849490	+	Silent	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr19:54849490G>A	ENST00000291759.4	-	4	428	c.372C>T	c.(370-372)acC>acT	p.T124T	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	124	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTGCGGACAGGGTGGGTCTGC	0.572																																																0			19											43	47	46					19																	54849490		2202	4300	6502	59541302	SO:0001819	synonymous_variant	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.372C>T	19.37:g.54849490G>A			59541302	Q32MC4	Silent	SNP	ENST00000291759.4	37	CCDS12890.1																																																																																				0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		A	54849490	G	A	54849490	2	1	152	1	0	0	0	0	0	0	0	1	8787	1219	43	2		2	LILRA4	19	54849490	Silent	SNP	G	TCGA-13-2057-01A-02D-1526-09	346525	54849490	4279493	123	8492											
ZSCAN4	201516	genome.wustl.edu	37	19	58190250	58190250	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr19:58190250C>T	ENST00000318203.5	+	5	1976	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	427					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCAAGTGTTCCCTCCACACC	0.398																																																0			19											63	62	62					19																	58190250		2203	4300	6503	62882062	SO:0001583	missense	201516			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1279C>T	19.37:g.58190250C>T	ENSP00000321963:p.Pro427Ser		62882062	Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	9.918	1.211341	0.22289	.	.	ENSG00000180532	ENST00000318203	T	0.08008	3.14	4.29	-1.97	0.07503	.	1.696030	0.03269	N	0.184485	T	0.07548	0.0190	L	0.33293	1	0.09310	N	1	B	0.24043	0.096	B	0.22386	0.039	T	0.40021	-0.9585	10	0.23891	T	0.37	-1.9055	8.8521	0.35206	0.0:0.4978:0.0:0.5022	.	427	Q8NAM6	ZSCA4_HUMAN	S	427	ENSP00000321963:P427S	ENSP00000321963:P427S	P	+	1	0	ZSCAN4	62882062	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.475000	0.06599	-0.222000	0.09958	-0.145000	0.13849	CCC		0.398	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		T	58190250	C	T	58190250	3	4	152	1	0	0	0	0	1	0	0	0	18237	855	30	2	1289	2	ZSCAN4	19	58190250	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	3340760	58190250	938733	124	8493											
PLCG1	5335	genome.wustl.edu	37	20	39794389	39794389	+	Missense_Mutation	SNP	C	C	G	rs146548575		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr20:39794389C>G	ENST00000373271.1	+	16	2127	c.1722C>G	c.(1720-1722)atC>atG	p.I574M	PLCG1_ENST00000373272.2_Missense_Mutation_p.I574M|PLCG1_ENST00000244007.3_Missense_Mutation_p.I574M	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	574	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGTACTGCATCGAGACCGGAG	0.597																																																0			20						C	MET/ILE,MET/ILE	1,4405	2.1+/-5.4	0,1,2202	66	65	65		1722,1722	-6.8	0.7	20	dbSNP_134	65	0,8600		0,0,4300	no	missense,missense	PLCG1	NM_002660.2,NM_182811.1	10,10	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	574/1292,574/1291	39794389	1,13005	2203	4300	6503	39227803	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1722C>G	20.37:g.39794389C>G	ENSP00000362368:p.Ile574Met		39227803	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124018	0.20959	2.27E-4	0.0	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.67171	-0.25;-0.25;-0.25	4.95	-6.85	0.01681	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology domain (1);SH2 motif (4);	0.217188	0.47852	D	0.000207	T	0.35595	0.0937	N	0.04508	-0.205	0.35902	D	0.830468	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.17722	0.011;0.019;0.019	T	0.02909	-1.1095	10	0.38643	T	0.18	.	10.6809	0.45813	0.1948:0.5751:0.0:0.2301	.	574;574;574	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	M	574	ENSP00000244007:I574M;ENSP00000362368:I574M;ENSP00000362369:I574M	ENSP00000244007:I574M	I	+	3	3	PLCG1	39227803	0.003000	0.15002	0.696000	0.30242	0.914000	0.54420	-1.900000	0.01599	-1.779000	0.01280	-0.258000	0.10820	ATC		0.597	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		G	39794389	C	G	39794389	3	3	152	1	0	0	0	0	1	0	0	0	12035	874	31	3	1784	3	PLCG1	20	39794389	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09		39794389	23231131	125	8494											
TP53TG5	27296	genome.wustl.edu	37	20	44006229	44006229	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr20:44006229C>G	ENST00000372726.3	-	2	229	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	TP53TG5_ENST00000494455.1_5'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.E9Q|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	25					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCTCTGTCTCGTCCCGCAGT	0.527																																																0			20											80	67	71					20																	44006229		2203	4300	6503	43439643	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.73G>C	20.37:g.44006229C>G	ENSP00000361811:p.Glu25Gln		43439643		Missense_Mutation	SNP	ENST00000372726.3	37	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540286	0.13250	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.10005	2.92;2.92	4.18	3.08	0.35506	.	0.286994	0.29752	N	0.011292	T	0.05273	0.0140	N	0.08118	0	0.18873	N	0.999983	B	0.17038	0.02	B	0.17098	0.017	T	0.30937	-0.9961	10	0.56958	D	0.05	-10.4382	6.4046	0.21658	0.0:0.1098:0.0:0.8902	.	25	Q9Y2B4	T53G5_HUMAN	Q	25;9	ENSP00000361811:E25Q;ENSP00000438374:E9Q	ENSP00000361811:E25Q	E	-	1	0	TP53TG5	43439643	0.579000	0.26725	0.985000	0.45067	0.033000	0.12548	1.019000	0.30014	0.967000	0.38186	-0.238000	0.12139	GAG		0.527	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		G	44006229	C	G	44006229	3	3	152	1	0	0	0	0	1	0	0	0	16391	893	31	3	815	3	TP53TG5	20	44006229	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	4211840	44006229	19019291	126	8495											
ZSWIM3	140831	genome.wustl.edu	37	20	44486545	44486545	+	Silent	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr20:44486545C>T	ENST00000255152.2	+	1	290	c.81C>T	c.(79-81)tcC>tcT	p.S27S	ACOT8_ENST00000217455.4_5'Flank|ZSWIM3_ENST00000454862.2_5'UTR	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	27							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ACAGGTGCTCCTTCATTCTCA	0.617																																																0			20											140	124	130					20																	44486545		2203	4300	6503	43919952	SO:0001819	synonymous_variant	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.81C>T	20.37:g.44486545C>T			43919952	Q9BR13	Silent	SNP	ENST00000255152.2	37	CCDS13381.1																																																																																				0.617	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		T	44486545	C	T	44486545	2	4	152	1	0	0	0	0	0	0	0	1	18242	668	24	2		2	ZSWIM3	20	44486545	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	480316	44486545	18538975	127	8496											
N6AMT1	29104	genome.wustl.edu	37	21	30257615	30257615	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr21:30257615G>T	ENST00000303775.5	-	1	78	c.53C>A	c.(52-54)gCc>gAc	p.A18D	N6AMT1_ENST00000351429.3_Missense_Mutation_p.A18D	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	18					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GTCGCTGAAGGCGCCGCGGCC	0.687																																																0			21											36	40	39					21																	30257615		2203	4298	6501	29179486	SO:0001583	missense	29104			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"chromosome 21 open reading frame 127", "HemK methyltransferase family member 2"	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.53C>A	21.37:g.30257615G>T	ENSP00000303584:p.Ala18Asp		29179486	Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	G	2.551	-0.303987	0.05495	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.20881	2.61;2.04	5.18	-1.57	0.08506	.	1.069530	0.07058	N	0.833180	T	0.04861	0.0131	N	0.01228	-0.945	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32798	-0.9893	10	0.06891	T	0.86	0.6016	1.3346	0.02142	0.1723:0.1349:0.2791:0.4138	.	18;18	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	D	18	ENSP00000303584:A18D;ENSP00000286764:A18D	ENSP00000303584:A18D	A	-	2	0	N6AMT1	29179486	0.001000	0.12720	0.002000	0.10522	0.696000	0.40369	0.141000	0.16076	-0.510000	0.06523	-0.291000	0.09656	GCC		0.687	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		T	30257615	G	T	30257615	3	4	152	1	0	0	0	0	1	0	0	0	10114	1203	42	3	615	3	N6AMT1	21	30257615	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09		30257615	17872280	128	8497											
TRPM2	7226	genome.wustl.edu	37	21	45789181	45789181	+	Silent	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr21:45789181C>T	ENST00000397928.1	+	5	1171	c.726C>T	c.(724-726)gcC>gcT	p.A242A	TRPM2_ENST00000300482.5_Silent_p.A242A|TRPM2_ENST00000397932.2_Silent_p.A242A|TRPM2_ENST00000300481.9_Silent_p.A242A|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	242					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCGGAGTCGCCACCTGGGGCA	0.667																																																0			21											51	44	46					21																	45789181		2203	4300	6503	44613609	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.726C>T	21.37:g.45789181C>T			44613609	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																				0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		T	45789181	C	T	45789181	2	4	152	1	0	0	0	0	0	0	0	1	16586	581	21	2		2	TRPM2	21	45789181	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	15531566	45789181	2340714	129	8498											
TRPM2	7226	genome.wustl.edu	37	21	45797639	45797639	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr21:45797639G>A	ENST00000397928.1	+	7	1442	c.997G>A	c.(997-999)Ggc>Agc	p.G333S	TRPM2_ENST00000300482.5_Missense_Mutation_p.G333S|TRPM2_ENST00000397932.2_Missense_Mutation_p.G333S|TRPM2_ENST00000300481.9_Missense_Mutation_p.G333S|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	333					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGGAGGGCGGCCCGGGCAC	0.607																																																0			21											87	63	71					21																	45797639		2203	4300	6503	44622067	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.997G>A	21.37:g.45797639G>A	ENSP00000381023:p.Gly333Ser		44622067	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819071	0.90873	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	3.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80223	-0.1471	10	0.72032	D	0.01	-24.7925	16.0255	0.80541	0.0:0.0:1.0:0.0	.	333;333	E9PGK7;O94759	.;TRPM2_HUMAN	S	333	ENSP00000300482:G333S;ENSP00000381023:G333S;ENSP00000300481:G333S;ENSP00000381026:G333S	ENSP00000300481:G333S	G	+	1	0	TRPM2	44622067	1.000000	0.71417	0.967000	0.41034	0.895000	0.52256	8.180000	0.89694	1.745000	0.51790	0.563000	0.77884	GGC		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45797639	G	A	45797639	3	1	152	1	0	0	0	0	1	0	0	0	16586	1116	39	1	1023	1	TRPM2	21	45797639	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	8458	45797639	2332256	130	8499											
PRMT2	3275	genome.wustl.edu	37	21	48080756	48080756	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr21:48080756T>G	ENST00000397637.1	+	8	1796	c.842T>G	c.(841-843)gTt>gGt	p.V281G	PRMT2_ENST00000397638.2_Missense_Mutation_p.V281G|PRMT2_ENST00000355680.3_Missense_Mutation_p.V281G|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000458387.2_Intron			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	281	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TCTTTAGCAGTTAAGGAGTTT	0.448																																																0			21											129	134	132					21																	48080756		2203	4300	6503	46905184	SO:0001583	missense	3275			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.842T>G	21.37:g.48080756T>G	ENSP00000380759:p.Val281Gly		46905184	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	ENST00000397637.1	37	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	.	9.942	1.217863	0.22373	.	.	ENSG00000160310	ENST00000355680;ENST00000397638;ENST00000397637	T;T;T	0.79454	-1.27;-1.27;-1.27	5.29	5.29	0.74685	.	0.345800	0.32640	N	0.005825	T	0.73164	0.3552	M	0.69823	2.125	0.47476	D	0.999436	B;B	0.18461	0.004;0.028	B;B	0.18561	0.009;0.022	T	0.68416	-0.5414	9	.	.	.	-11.5346	8.1236	0.30986	0.0:0.0903:0.0:0.9097	.	167;281	Q49AF9;P55345	.;ANM2_HUMAN	G	281	ENSP00000347906:V281G;ENSP00000380760:V281G;ENSP00000380759:V281G	.	V	+	2	0	PRMT2	46905184	1.000000	0.71417	0.964000	0.40570	0.310000	0.27922	1.883000	0.39658	2.139000	0.66308	0.533000	0.62120	GTT		0.448	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		G	48080756	T	G	48080756	3	3	152	1	0	0	0	0	1	0	0	0	12540	1725	60	5	868	5	PRMT2	21	48080756	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	2283117	48080756	49139	131	8500											
RASD2	23551	genome.wustl.edu	37	22	35947653	35947653	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr22:35947653C>G	ENST00000216127.4	+	3	1017	c.375C>G	c.(373-375)aaC>aaG	p.N125K		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	125					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GCCTGAAGAACAAGACCAAGG	0.602																																																0			22											85	78	80					22																	35947653		2203	4300	6503	34277599	SO:0001583	missense	23551			AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"tumor endothelial marker 2", "Ras homolog enriched in striatum"	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.375C>G	22.37:g.35947653C>G	ENSP00000216127:p.Asn125Lys		34277599	O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839049	0.71373	.	.	ENSG00000100302	ENST00000216127	T	0.72725	-0.68	5.62	1.17	0.20885	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	L	0.29908	0.895	0.47065	D	0.999308	D	0.63046	0.992	P	0.61003	0.882	T	0.65529	-0.6146	10	0.46703	T	0.11	.	9.9608	0.41695	0.0:0.7326:0.0:0.2674	.	125	Q96D21	RHES_HUMAN	K	125	ENSP00000216127:N125K	ENSP00000216127:N125K	N	+	3	2	RASD2	34277599	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.925000	0.40074	0.051000	0.15978	-0.258000	0.10820	AAC		0.602	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		G	35947653	C	G	35947653	3	3	152	1	0	0	0	0	1	0	0	0	13070	477	17	3	381	3	RASD2	22	35947653	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09		35947653	15356913	132	8501											
TCF20	6942	genome.wustl.edu	37	22	42610753	42610753	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr22:42610753G>A	ENST00000359486.3	-	1	695	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	TCF20_ENST00000335626.4_Missense_Mutation_p.L187F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GACTGGTAAAGCTGTTGTCTC	0.587																																																0			22											70	53	59					22																	42610753		2203	4300	6503	40940697	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.559C>T	22.37:g.42610753G>A	ENSP00000352463:p.Leu187Phe		40940697	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838681	0.71373	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.36699	1.24;1.24	5.17	5.17	0.71159	.	0.095451	0.45361	D	0.000366	T	0.38348	0.1037	N	0.19112	0.55	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.57101	0.813;0.655	T	0.07966	-1.0745	10	0.35671	T	0.21	-13.8356	14.7001	0.69150	0.0:0.0:0.846:0.154	.	187;187	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	187	ENSP00000352463:L187F;ENSP00000335561:L187F	ENSP00000335561:L187F	L	-	1	0	TCF20	40940697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.885000	0.75606	2.685000	0.91497	0.655000	0.94253	CTT		0.587	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		A	42610753	G	A	42610753	3	1	152	1	0	0	0	0	1	0	0	0	15690	971	34	2	5361	2	TCF20	22	42610753	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	6663100	42610753	8693813	133	8502											
SAPS2	9701	genome.wustl.edu	37	22	50869811	50869811	+	Splice_Site	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chr22:50869811C>T	ENST00000216061.5	+	12	1705	c.1335C>T	c.(1333-1335)caC>caT	p.H445H	PPP6R2_ENST00000359139.3_Splice_Site_p.H445H|PPP6R2_ENST00000395744.3_Splice_Site_p.H445H|PPP6R2_ENST00000395741.3_Splice_Site_p.H446H			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	445						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGGTGACCCACGTGAGTCCAA	0.627																																																0			22											38	39	39					22																	50869811		2203	4299	6502	49216677	SO:0001630	splice_region_variant	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1335+1C>T	22.37:g.50869811C>T			49216677	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37																																																																																					0.627	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678	Silent	T	50869811	C	T	50869811	5	4	152	1	0	0	0	0	0	0	1	0	13840	550	19	1	1369	1	SAPS2	22	50869811	Splice_Site	SNP	C	TCGA-13-2057-01A-02D-1526-09	8259058	50869811	434755	134	8503											
TLR7	51284	genome.wustl.edu	37	X	12903901	12903901	+	Missense_Mutation	SNP	G	G	A	rs201304033		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:12903901G>A	ENST00000380659.3	+	3	413	c.274G>A	c.(274-276)Gta>Ata	p.V92I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	92					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GGACCATCTGGTAGAGATCGA	0.478																																																0			X						G	ILE/VAL	0,3835		0,0,0,1632,571	138	128	131		274	0	0	X		131	3,6725		0,1,2,2427,1870	no	missense	TLR7	NM_016562.3	29	0,1,2,4059,2441	AA,AG,A,GG,G		0.0446,0.0,0.0284	benign	92/1050	12903901	3,10560	2203	4300	6503	12813822	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.274G>A	X.37:g.12903901G>A	ENSP00000370034:p.Val92Ile		12813822	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	4.901	0.167510	0.09339	0.0	4.46E-4	ENSG00000196664	ENST00000380659	T	0.02446	4.29	5.79	-0.015	0.13978	.	0.543908	0.18066	N	0.152766	T	0.02727	0.0082	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39375	-0.9617	10	0.44086	T	0.13	.	7.3791	0.26845	0.3455:0.1611:0.4934:0.0	.	92	Q9NYK1	TLR7_HUMAN	I	92	ENSP00000370034:V92I	ENSP00000370034:V92I	V	+	1	0	TLR7	12813822	0.001000	0.12720	0.008000	0.14137	0.200000	0.23975	0.307000	0.19296	-0.527000	0.06374	0.500000	0.49745	GTA		0.478	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		A	12903901	G	A	12903901	3	1	152	1	0	0	0	0	1	0	0	0	15956	1261	44	2	280	2	TLR7	23	12903901	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09		12903901	142366659	135	8504											
ELK1	2002	genome.wustl.edu	37	X	47497543	47497543	+	Silent	SNP	C	C	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:47497543C>T	ENST00000247161.3	-	4	792	c.693G>A	c.(691-693)tcG>tcA	p.S231S	ELK1_ENST00000376983.3_Silent_p.S231S|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Silent_p.S177S	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	231					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TAAGCTCTTCCGATTTCAGGT	0.577																																																0			X											9	10	10					X																	47497543		2169	4184	6353	47382487	SO:0001819	synonymous_variant	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.693G>A	X.37:g.47497543C>T			47382487	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	ENST00000247161.3	37	CCDS14283.1																																																																																				0.577	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		T	47497543	C	T	47497543	2	4	152	1	0	0	0	0	0	0	0	1	5059	639	23	1		1	ELK1	23	47497543	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	34593642	47497543	107773017	136	8505											
PPP1R3F	89801	genome.wustl.edu	37	X	49142461	49142461	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:49142461C>A	ENST00000055335.6	+	4	1325	c.1309C>A	c.(1309-1311)Ccc>Acc	p.P437T	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.P91T|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.P108T|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.P91T|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.P91T	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	437					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GGCCTCAGGGCCCGATGCGAG	0.667																																																0			X											19	18	18					X																	49142461		2197	4293	6490	49029405	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1309C>A	X.37:g.49142461C>A	ENSP00000055335:p.Pro437Thr		49029405	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686222	0.47991	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.59364	0.71;0.7;0.27;0.71;0.71	5.49	3.63	0.41609	.	0.000000	0.48286	D	0.000182	T	0.56352	0.1979	L	0.27053	0.805	0.27694	N	0.946007	D;D;D	0.71674	0.998;0.998;0.991	D;D;P	0.66351	0.943;0.943;0.831	T	0.46721	-0.9171	10	0.51188	T	0.08	-4.4293	6.0665	0.19866	0.0:0.707:0.1884:0.1046	.	108;122;437	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	T	91;108;437;91;91	ENSP00000420687:P91T;ENSP00000415548:P108T;ENSP00000055335:P437T;ENSP00000417535:P91T;ENSP00000365359:P91T	ENSP00000055335:P437T	P	+	1	0	PPP1R3F	49029405	0.869000	0.29996	0.998000	0.56505	0.893000	0.52053	0.624000	0.24462	2.311000	0.77944	0.529000	0.55759	CCC		0.667	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		A	49142461	C	A	49142461	3	1	152	1	0	0	0	0	1	0	0	0	12378	739	26	3	1323	3	PPP1R3F	23	49142461	Missense_Mutation	SNP	C	TCGA-13-2057-01A-02D-1526-09	1644918	49142461	106128099	137	8506											
MAGED2	10916	genome.wustl.edu	37	X	54836166	54836166	+	Silent	SNP	A	A	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:54836166A>T	ENST00000375068.1	+	3	290	c.57A>T	c.(55-57)tcA>tcT	p.S19S	MAGED2_ENST00000375058.1_Silent_p.S19S|MAGED2_ENST00000375053.2_Silent_p.S19S|MAGED2_ENST00000375062.4_Silent_p.S19S|MAGED2_ENST00000218439.4_Silent_p.S19S|MAGED2_ENST00000396224.1_Silent_p.S19S|MAGED2_ENST00000375060.1_Silent_p.S19S|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000347546.4_Silent_p.S19S			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	19						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CTGAAGCTTCAGAAAAGGACA	0.517																																																0			X											121	106	111					X																	54836166		2203	4300	6503	54852891	SO:0001819	synonymous_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.57A>T	X.37:g.54836166A>T			54852891	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	CCDS14362.1																																																																																				0.517	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		T	54836166	A	T	54836166	2	4	152	1	0	0	0	0	0	0	0	1	9184	175	7	5		5	MAGED2	23	54836166	Silent	SNP	A	TCGA-13-2057-01A-02D-1526-09	5693705	54836166	100434394	138	8507											
AR	367	genome.wustl.edu	37	X	66942818	66942818	+	Missense_Mutation	SNP	G	G	C	rs137852564		TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:66942818G>C	ENST00000374690.3	+	7	3123	c.2599G>C	c.(2599-2601)Gtg>Ctg	p.V867L	AR_ENST00000396043.2_Missense_Mutation_p.V335L|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	866	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CCTGGACTCCGTGCAGCCTGT	0.483									Androgen Insensitivity Syndrome																																							0			X	GRCh37	CM890012|CM920100	AR	M	rs137852564						84	79	81					X																	66942818		2203	4300	6503	66859543	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2599G>C	X.37:g.66942818G>C	ENSP00000363822:p.Val867Leu		66859543	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	-	7.552	0.662943	0.14710	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	D;D	0.99418	-5.87;-5.87	5.19	5.19	0.71726	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.059197	0.64402	D	0.000002	D	0.92237	0.7538	N	0.00112	-2.095	0.80722	D	1	B;B	0.33919	0.001;0.432	B;B	0.28784	0.004;0.094	D	0.95191	0.8308	10	0.02654	T	1	.	14.971	0.71235	0.0:0.0:1.0:0.0	.	335;866	F1D8N5;P10275	.;ANDR_HUMAN	L	685;867;335	ENSP00000363822:V867L;ENSP00000379358:V335L	ENSP00000363822:V867L	V	+	1	0	AR	66859543	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.390000	0.59646	2.416000	0.81992	0.591000	0.81541	GTG		0.483	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		C	66942818	G	C	66942818	3	2	152	1	0	0	0	0	1	0	0	0	836	1145	40	3	2649	3	AR	23	66942818	Missense_Mutation	SNP	G	TCGA-13-2057-01A-02D-1526-09	12106652	66942818	88327742	139	8508											
MAGEE1	57692	genome.wustl.edu	37	X	75650185	75650185	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:75650185T>C	ENST00000361470.2	+	1	2140	c.1862T>C	c.(1861-1863)tTt>tCt	p.F621S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	621	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTTTCCATTTTTGGGAACCCA	0.483																																																0			X											53	48	50					X																	75650185		2203	4300	6503	75566589	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1862T>C	X.37:g.75650185T>C	ENSP00000354912:p.Phe621Ser		75566589	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	T	5.610	0.297206	0.10622	.	.	ENSG00000198934	ENST00000361470	T	0.05996	3.36	2.13	0.855	0.19013	.	.	.	.	.	T	0.21145	0.0509	M	0.83118	2.625	0.09310	N	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.06588	-1.0818	9	0.87932	D	0	.	4.4444	0.11589	0.0:0.0:0.3479:0.6521	.	621	Q9HCI5	MAGE1_HUMAN	S	621	ENSP00000354912:F621S	ENSP00000354912:F621S	F	+	2	0	MAGEE1	75566589	0.995000	0.38212	0.068000	0.19968	0.032000	0.12392	2.127000	0.42035	0.134000	0.18681	0.481000	0.45027	TTT		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		C	75650185	T	C	75650185	3	2	152	1	0	0	0	0	1	0	0	0	9185	1841	64	4	1864	4	MAGEE1	23	75650185	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	8707367	75650185	79620375	140	8509											
BRWD3	254065	genome.wustl.edu	37	X	79932616	79932616	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:79932616T>A	ENST00000373275.4	-	41	5117	c.4901A>T	c.(4900-4902)gAt>gTt	p.D1634V	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1634					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATCTACGTAATCTTGATCTGT	0.393																																																0			X											235	216	223					X																	79932616		2203	4300	6503	79819272	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4901A>T	X.37:g.79932616T>A	ENSP00000362372:p.Asp1634Val		79819272	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.189479	0.38707	.	.	ENSG00000165288	ENST00000373275	T	0.75938	-0.98	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.68256	0.2981	N	0.08118	0	0.58432	D	0.999999	D	0.69078	0.997	P	0.60789	0.879	T	0.68368	-0.5427	9	.	.	.	-12.3016	13.0073	0.58712	0.0:0.0:0.0:1.0	.	1634	Q6RI45	BRWD3_HUMAN	V	1634	ENSP00000362372:D1634V	.	D	-	2	0	BRWD3	79819272	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.700000	0.68318	1.639000	0.50556	0.412000	0.27726	GAT		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		A	79932616	T	A	79932616	3	1	152	1	0	0	0	0	1	0	0	0	1526	1435	50	5	511	5	BRWD3	23	79932616	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	4282431	79932616	75337944	141	8510											
XPNPEP2	7512	genome.wustl.edu	37	X	128901659	128901659	+	Silent	SNP	T	T	C			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:128901659T>C	ENST00000371106.3	+	20	2013	c.1821T>C	c.(1819-1821)tcT>tcC	p.S607S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	607						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCCTGCTGTCTCCCGAGCATG	0.582																																																0			X											239	159	187					X																	128901659		2203	4300	6503	128729340	SO:0001819	synonymous_variant	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1821T>C	X.37:g.128901659T>C			128729340	A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	CCDS14613.1																																																																																				0.582	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		C	128901659	T	C	128901659	2	2	152	1	0	0	0	0	0	0	0	1	17443	1538	54	4		4	XPNPEP2	23	128901659	Silent	SNP	T	TCGA-13-2057-01A-02D-1526-09	48969043	128901659	26368901	142	8511											
HMGB3	3149	genome.wustl.edu	37	X	150154644	150154644	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:150154644A>T	ENST00000325307.7	+	3	367	c.271A>T	c.(271-273)Aat>Tat	p.N91Y	HMGB3_ENST00000448905.2_Missense_Mutation_p.N91Y	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	91					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGATCCTAATGCTCCCAA	0.403																																																0			X											37	32	33					X																	150154644		2203	4299	6502	149905302	SO:0001583	missense	3149			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.271A>T	X.37:g.150154644A>T	ENSP00000359393:p.Asn91Tyr		149905302	O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	a	20.7	4.041975	0.75732	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905;ENST00000430118	D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49	5.2	5.2	0.72013	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.059697	0.64402	D	0.000005	D	0.98134	0.9384	H	0.97940	4.11	0.50039	D	0.999847	D	0.63880	0.993	D	0.64595	0.927	D	0.99035	1.0822	10	0.87932	D	0	.	13.2343	0.59961	1.0:0.0:0.0:0.0	.	91	O15347	HMGB3_HUMAN	Y	91	ENSP00000410354:N91Y;ENSP00000359393:N91Y;ENSP00000405601:N91Y;ENSP00000442758:N91Y;ENSP00000417027:N91Y	ENSP00000359393:N91Y	N	+	1	0	HMGB3	149905302	1.000000	0.71417	0.910000	0.35882	0.996000	0.88848	9.189000	0.94928	1.717000	0.51406	0.486000	0.48141	AAT		0.403	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		T	150154644	A	T	150154644	3	4	152	1	0	0	0	0	1	0	0	0	7227	362	13	5	277	5	HMGB3	23	150154644	Missense_Mutation	SNP	A	TCGA-13-2057-01A-02D-1526-09	21252985	150154644	5115916	143	8512											
MAGEA4	4103	genome.wustl.edu	37	X	151092588	151092588	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:151092588T>A	ENST00000360243.2	+	3	719	c.452T>A	c.(451-453)aTc>aAc	p.I151N	MAGEA4_ENST00000370337.4_Missense_Mutation_p.I151N|MAGEA4_ENST00000370335.1_Missense_Mutation_p.I151N|MAGEA4_ENST00000276344.2_Missense_Mutation_p.I151N|MAGEA4_ENST00000393920.1_Missense_Mutation_p.I151N|MAGEA4_ENST00000370340.3_Missense_Mutation_p.I151N|MAGEA4_ENST00000393921.1_Missense_Mutation_p.I151N	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	151	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGTGATCTTCGGCAAA	0.527																																																0			X											97	97	97					X																	151092588		2203	4300	6503	150843244	SO:0001583	missense	4103				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.452T>A	X.37:g.151092588T>A	ENSP00000353379:p.Ile151Asn		150843244	Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431048	0.43122	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15	2.37	2.37	0.29283	.	0.156968	0.56097	D	0.000037	T	0.34774	0.0909	H	0.96518	3.835	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17379	-1.0371	10	0.87932	D	0	.	5.9372	0.19173	0.0:0.0:0.0:1.0	.	151	P43358	MAGA4_HUMAN	N	151	ENSP00000387777:I151N;ENSP00000276344:I151N;ENSP00000391904:I151N;ENSP00000377498:I151N;ENSP00000394149:I151N;ENSP00000359362:I151N;ENSP00000402624:I151N;ENSP00000377497:I151N;ENSP00000359365:I151N;ENSP00000394073:I151N;ENSP00000400900:I151N;ENSP00000402186:I151N;ENSP00000359360:I151N;ENSP00000353379:I151N;ENSP00000390096:I151N	ENSP00000276344:I151N	I	+	2	0	MAGEA4	150843244	0.339000	0.24784	0.012000	0.15200	0.242000	0.25591	2.864000	0.48404	1.190000	0.43042	0.242000	0.17961	ATC		0.527	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		A	151092588	T	A	151092588	3	1	152	1	0	0	0	0	1	0	0	0	9168	1435	50	5	454	5	MAGEA4	23	151092588	Missense_Mutation	SNP	T	TCGA-13-2057-01A-02D-1526-09	937944	151092588	4177972	144	8513											
ARHGAP4	393	genome.wustl.edu	37	X	153175368	153175368	+	Silent	SNP	C	C	G			TCGA-13-2057-01A-02D-1526-09	TCGA-13-2057-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c	0440ebfb-764d-448f-9bba-e7a42e7fac80	g.chrX:153175368C>G	ENST00000350060.5	-	19	2282	c.2241G>C	c.(2239-2241)ggG>ggC	p.G747G	ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370016.1_Silent_p.G726G|ARHGAP4_ENST00000537206.1_Silent_p.G724G|ARHGAP4_ENST00000393721.1_Silent_p.G569G|ARHGAP4_ENST00000370028.3_Silent_p.G787G	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	747	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					CCTCCACGACCCCCTCCAGGT	0.692																																																0			X											13	14	14					X																	153175368		2179	4249	6428	152828562	SO:0001819	synonymous_variant	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2241G>C	X.37:g.153175368C>G			152828562	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520821	0.27211	.	.	ENSG00000089820	ENST00000454164;ENST00000442172	T;T	0.29917	1.55;1.55	4.44	-7.15	0.01521	.	0.000000	0.35646	N	0.003075	T	0.28499	0.0705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37888	-0.9686	7	0.87932	D	0	.	3.4546	0.07511	0.0995:0.2585:0.4076:0.2345	.	.	.	.	A	169;236	ENSP00000412437:G169A;ENSP00000408656:G236A	ENSP00000397533:G608A	G	-	2	0	ARHGAP4	152828562	0.000000	0.05858	0.001000	0.08648	0.472000	0.32918	-0.844000	0.04345	-1.347000	0.02208	0.525000	0.51046	GGG		0.692	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		G	153175368	C	G	153175368	2	3	152	1	0	0	0	0	0	0	0	1	885	610	22	3		3	ARHGAP4	23	153175368	Silent	SNP	C	TCGA-13-2057-01A-02D-1526-09	2082780	153175368	2095192	145	8514											
AGRN	375790	genome.wustl.edu	37	1	981234	981234	+	Silent	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:981234G>T	ENST00000379370.2	+	15	2708	c.2658G>T	c.(2656-2658)ctG>ctT	p.L886L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	886	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCGTGCCCTGGGCCCCGCGG	0.692																																																0			1											47	54	52					1																	981234		2203	4298	6501	971097	SO:0001819	synonymous_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2658G>T	1.37:g.981234G>T			971097	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	CCDS30551.1																																																																																				0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	981234	G	T	981234	2	4	153	1	0	0	0	0	0	0	0	1	397	1335	47	3		3	AGRN	1	981234	Silent	SNP	G	TCGA-13-2059-01A-01D-1526-09		981234	248269387	1	8515											
CHD5	26038	genome.wustl.edu	37	1	6202548	6202548	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:6202548T>A	ENST00000262450.3	-	14	2260	c.2161A>T	c.(2161-2163)Acc>Tcc	p.T721S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCAGGATGGTGTCAGTGCCC	0.637																																																0			1											114	81	92					1																	6202548		2203	4300	6503	6125135	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2161A>T	1.37:g.6202548T>A	ENSP00000262450:p.Thr721Ser		6125135	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266783	0.80358	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.92805	-3.11	3.43	3.43	0.39272	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	N	0.00686	-1.255	0.80722	D	1	B	0.25563	0.129	B	0.23716	0.048	T	0.75648	-0.3245	10	0.52906	T	0.07	-28.72	12.3403	0.55091	0.0:0.0:0.0:1.0	.	721	Q8TDI0	CHD5_HUMAN	S	721;237;129;129	ENSP00000262450:T721S	ENSP00000262450:T721S	T	-	1	0	CHD5	6125135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	1.545000	0.49373	0.459000	0.35465	ACC		0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6202548	T	A	6202548	3	1	153	1	0	0	0	0	1	0	0	0	3328	1696	59	5	3815	5	CHD5	1	6202548	Missense_Mutation	SNP	T	TCGA-13-2059-01A-01D-1526-09	5221314	6202548	243048073	2	8516											
GPR153	387509	genome.wustl.edu	37	1	6313948	6313948	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:6313948G>C	ENST00000377893.2	-	3	875	c.616C>G	c.(616-618)Cag>Gag	p.Q206E		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CGGTCGGCCTGGCGCCCCACC	0.706																																																0			1											25	28	27					1																	6313948		2192	4294	6486	6236535	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.616C>G	1.37:g.6313948G>C	ENSP00000367125:p.Gln206Glu		6236535	Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	CCDS64.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.985802	0.00443	.	.	ENSG00000158292	ENST00000377893	T	0.37584	1.19	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.612326	0.16237	N	0.223313	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.13548	-1.0505	10	0.02654	T	1	-23.4569	11.513	0.50504	0.0:0.0:0.8203:0.1797	.	206	Q6NV75	GP153_HUMAN	E	206	ENSP00000367125:Q206E	ENSP00000367125:Q206E	Q	-	1	0	GPR153	6236535	1.000000	0.71417	0.398000	0.26321	0.095000	0.18619	3.044000	0.49830	2.347000	0.79759	0.563000	0.77884	CAG		0.706	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			C	6313948	G	C	6313948	3	2	153	1	0	0	0	0	1	0	0	0	6659	1357	47	3	1229	3	GPR153	1	6313948	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	111400	6313948	242936673	3	8517											
SYNC	81493	genome.wustl.edu	37	1	33160499	33160499	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:33160499C>T	ENST00000409190.3	-	2	1658	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	SYNC_ENST00000373484.3_Silent_p.R400R	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	400	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCGTTTTTGCCTCACAAGTG	0.547																																																0			1											286	288	287					1																	33160499		2203	4300	6503	32933086	SO:0001819	synonymous_variant	81493			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"Intermediate filaments type III"	28897	protein-coding gene	gene with protein product		611750	"syncoilin, intermediate filament 1"	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1200G>A	1.37:g.33160499C>T			32933086	B4DNK8|B4DY58|C9IY41	Silent	SNP	ENST00000409190.3	37	CCDS367.2																																																																																				0.547	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		T	33160499	C	T	33160499	2	4	153	1	0	0	0	0	0	0	0	1	15443	738	26	2		2	SYNC	1	33160499	Silent	SNP	C	TCGA-13-2059-01A-01D-1526-09	26846551	33160499	216090122	4	8518											
SLC2A1	6513	genome.wustl.edu	37	1	43408904	43408904	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:43408904G>C	ENST00000426263.3	-	2	285	c.107C>G	c.(106-108)cCc>cGc	p.P36R	SLC2A1_ENST00000415851.2_Missense_Mutation_p.P36R|SLC2A1_ENST00000372500.3_Missense_Mutation_p.P36R	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	36					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CACCTTCTGGGGGGCATTGAT	0.572																																																0			1											66	51	56					1																	43408904		2203	4300	6503	43181491	SO:0001583	missense	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.107C>G	1.37:g.43408904G>C	ENSP00000416293:p.Pro36Arg		43181491	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427564	0.83667	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000415851;ENST00000372500	T;T	0.80653	-1.4;-1.4	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	H	0.98612	4.28	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.95457	0.8539	10	0.87932	D	0	.	14.6388	0.68708	0.0:0.0:1.0:0.0	.	36	P11166	GTR1_HUMAN	R	36	ENSP00000416293:P36R;ENSP00000361578:P36R	ENSP00000361578:P36R	P	-	2	0	SLC2A1	43181491	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.929000	0.87595	2.612000	0.88384	0.655000	0.94253	CCC		0.572	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		C	43408904	G	C	43408904	3	2	153	1	0	0	0	0	1	0	0	0	14541	1232	43	3	1407	3	SLC2A1	1	43408904	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	10248405	43408904	205841717	5	8519											
UROD	7389	genome.wustl.edu	37	1	45477952	45477952	+	Silent	SNP	G	G	T	rs397514764		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:45477952G>T	ENST00000246337.4	+	1	134	c.15G>T	c.(13-15)ggG>ggT	p.G5G	HECTD3_ENST00000372172.4_5'Flank|UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	5					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					AAGCGAATGGGTTGGGGTGAG	0.557									Porphyria Cutanea Tarda, Type II																																							0			1											132	133	132					1																	45477952		2203	4300	6503	45250539	SO:0001819	synonymous_variant	7389	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.15G>T	1.37:g.45477952G>T			45250539	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Silent	SNP	ENST00000246337.4	37	CCDS518.1																																																																																				0.557	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		T	45477952	G	T	45477952	2	4	153	1	0	0	0	0	0	0	0	1	17029	1248	44	3		3	UROD	1	45477952	Silent	SNP	G	TCGA-13-2059-01A-01D-1526-09	2069048	45477952	203772669	6	8520											
AKR1A1	10327	genome.wustl.edu	37	1	46033769	46033769	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:46033769G>T	ENST00000372070.3	+	6	1219	c.472G>T	c.(472-474)Gcg>Tcg	p.A158S	AKR1A1_ENST00000351829.4_Missense_Mutation_p.A158S|AKR1A1_ENST00000473038.1_3'UTR	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	158					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GCTGGTGCAGGCGCTGGGCCT	0.562																																																0			1											79	71	74					1																	46033769		2203	4300	6503	45806356	SO:0001583	missense	10327			J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.472G>T	1.37:g.46033769G>T	ENSP00000361140:p.Ala158Ser		45806356	A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	CCDS523.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415421	0.42817	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.25085	1.82;1.82	5.75	5.75	0.90469	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.046170	0.85682	D	0.000000	T	0.17280	0.0415	N	0.10809	0.05	0.80722	D	1	B	0.22346	0.068	B	0.32465	0.146	T	0.05733	-1.0867	10	0.02654	T	1	.	20.0202	0.97492	0.0:0.0:1.0:0.0	.	158	P14550	AK1A1_HUMAN	S	158	ENSP00000361140:A158S;ENSP00000312606:A158S	ENSP00000312606:A158S	A	+	1	0	AKR1A1	45806356	1.000000	0.71417	0.969000	0.41365	0.897000	0.52465	5.334000	0.65923	2.729000	0.93468	0.650000	0.86243	GCG		0.562	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		T	46033769	G	T	46033769	3	4	153	1	0	0	0	0	1	0	0	0	465	1203	42	3	486	3	AKR1A1	1	46033769	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	555817	46033769	203216852	7	8521											
PCSK9	255738	genome.wustl.edu	37	1	55527225	55527225	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:55527225A>T	ENST00000302118.5	+	11	2149	c.1859A>T	c.(1858-1860)gAg>gTg	p.E620V	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	620	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCCCTCAGGAGCAGGTGAAG	0.627																																					Pancreas(137;1454 1827 5886 22361 42375)											0			1											20	19	19					1																	55527225		2189	4294	6483	55299813	SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1859A>T	1.37:g.55527225A>T	ENSP00000303208:p.Glu620Val		55299813	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117932	0.37339	.	.	ENSG00000169174	ENST00000302118	T	0.72394	-0.65	4.0	4.0	0.46444	.	0.457681	0.18469	U	0.140273	T	0.53802	0.1819	L	0.29908	0.895	0.58432	D	0.999994	B	0.32245	0.361	B	0.26864	0.074	T	0.52793	-0.8528	10	0.35671	T	0.21	-8.0031	8.8464	0.35172	0.9052:0.0:0.0948:0.0	.	620	Q8NBP7	PCSK9_HUMAN	V	620	ENSP00000303208:E620V	ENSP00000303208:E620V	E	+	2	0	PCSK9	55299813	0.993000	0.37304	0.889000	0.34880	0.184000	0.23303	2.229000	0.42990	1.571000	0.49722	0.379000	0.24179	GAG		0.627	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		T	55527225	A	T	55527225	3	4	153	1	0	0	0	0	1	0	0	0	11606	304	11	5	1901	5	PCSK9	1	55527225	Missense_Mutation	SNP	A	TCGA-13-2059-01A-01D-1526-09	9493456	55527225	193723396	8	8522											
C8B	732	genome.wustl.edu	37	1	57425840	57425840	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:57425840C>A	ENST00000371237.4	-	2	168	c.102G>T	c.(100-102)agG>agT	p.R34S	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000543257.1_5'UTR|C8B_ENST00000535057.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	34					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AGGAATGTGGCCTTTCACCTC	0.398																																																0			1											131	115	120					1																	57425840		2203	4300	6503	57198428	SO:0001583	missense	732			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.102G>T	1.37:g.57425840C>A	ENSP00000360281:p.Arg34Ser		57198428	A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	7.600	0.672566	0.14776	.	.	ENSG00000021852	ENST00000371237	T	0.24151	1.87	4.42	1.55	0.23275	.	0.885835	0.09826	N	0.750781	T	0.15478	0.0373	L	0.29908	0.895	0.09310	N	0.999997	B	0.22276	0.067	B	0.17433	0.018	T	0.35176	-0.9799	10	0.08837	T	0.75	-3.4156	7.7045	0.28642	0.0:0.6543:0.0:0.3457	.	34	P07358	CO8B_HUMAN	S	34	ENSP00000360281:R34S	ENSP00000360281:R34S	R	-	3	2	C8B	57198428	0.000000	0.05858	0.030000	0.17652	0.207000	0.24258	-0.532000	0.06164	0.387000	0.25024	0.563000	0.77884	AGG		0.398	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			A	57425840	C	A	57425840	3	1	153	1	0	0	0	0	1	0	0	0	2417	738	26	3	1717	3	C8B	1	57425840	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	1898615	57425840	191824781	9	8523											
CLCA2	9635	genome.wustl.edu	37	1	86913415	86913415	+	Silent	SNP	A	A	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:86913415A>G	ENST00000370565.4	+	11	2100	c.1938A>G	c.(1936-1938)ccA>ccG	p.P646P		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	646					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CAGTTGAGCCAGAGACTGGAG	0.438																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											0			1											84	80	82					1																	86913415		2203	4300	6503	86686003	SO:0001819	synonymous_variant	9635				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1938A>G	1.37:g.86913415A>G			86686003	A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	CCDS708.1																																																																																				0.438	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		G	86913415	A	G	86913415	2	3	153	1	0	0	0	0	0	0	0	1	3458	175	7	4		4	CLCA2	1	86913415	Silent	SNP	A	TCGA-13-2059-01A-01D-1526-09	29487575	86913415	162337206	10	8524											
HFM1	164045	genome.wustl.edu	37	1	91809027	91809027	+	Silent	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:91809027G>A	ENST00000370425.3	-	20	2393	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	HFM1_ENST00000370424.3_Silent_p.D444D|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	765					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTTTATTAAGTCCAGGGATG	0.249																																																0			1											28	28	28					1																	91809027		2189	4256	6445	91581615	SO:0001819	synonymous_variant	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2295C>T	1.37:g.91809027G>A			91581615	B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739925	0.15642	.	.	ENSG00000162669	ENST00000430465	.	.	.	5.35	3.4	0.38934	.	.	.	.	.	T	0.30293	0.0760	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.18777	-1.0326	4	.	.	.	.	3.3418	0.07122	0.3633:0.0:0.4593:0.1774	.	.	.	.	I	21	.	.	T	-	2	0	HFM1	91581615	0.817000	0.29147	0.998000	0.56505	0.996000	0.88848	0.017000	0.13399	0.548000	0.28955	0.460000	0.39030	ACT		0.249	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		A	91809027	G	A	91809027	2	1	153	1	0	0	0	0	0	0	0	1	7083	1020	36	2		2	HFM1	1	91809027	Silent	SNP	G	TCGA-13-2059-01A-01D-1526-09	4895612	91809027	157441594	11	8525											
RPTN	126638	genome.wustl.edu	37	1	152127455	152127455	+	Missense_Mutation	SNP	T	T	C	rs75957773	byFrequency	TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:152127455T>C	ENST00000316073.3	-	3	2184	c.2120A>G	c.(2119-2121)gAa>gGa	p.E707G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	707	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCCTGCTCTTCCTCTGCCCA	0.562													T|||	281	0.0561102	0.0053	0.0965	5008	,	,		21543	0.001		0.1362	False		,,,				2504	0.0706															0			1						T	GLY/GLU	79,3057		0,79,1489	306	251	268		2120	2.8	0	1	dbSNP_131	268	981,6183		62,857,2663	yes	missense	RPTN	NM_001122965.1	98	62,936,4152	CC,CT,TT		13.6935,2.5191,10.2913	probably-damaging	707/785	152127455	1060,9240	1568	3582	5150	150394079	SO:0001583	missense	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2120A>G	1.37:g.152127455T>C	ENSP00000317895:p.Glu707Gly		150394079	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	149	0.06822344322344322	3	0.006097560975609756	40	0.11049723756906077	0	0.0	106	0.13984168865435356	T	11.43	1.636369	0.29068	0.025191	0.136935	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.23147	1.92	5.15	2.82	0.32997	.	.	.	.	.	T	0.10035	0.0246	M	0.61703	1.905	0.80722	P	0.0	B	0.32101	0.356	B	0.30855	0.121	T	0.13335	-1.0513	8	0.25751	T	0.34	0.1107	7.9769	0.30159	0.0:0.1718:0.0:0.8282	.	707	Q6XPR3	RPTN_HUMAN	G	707;362	ENSP00000317895:E707G	ENSP00000317895:E707G	E	-	2	0	RPTN	150394079	.	.	0.007000	0.13788	0.104000	0.19210	.	.	0.300000	0.22699	0.523000	0.50628	GAA		0.562	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		C	152127455	T	C	152127455	3	2	153	1	0	0	0	0	1	0	0	0	13667	1783	62	4	238	4	RPTN	1	152127455	Missense_Mutation	SNP	T	TCGA-13-2059-01A-01D-1526-09	60318428	152127455	97123166	12	8526											
FLG	2312	genome.wustl.edu	37	1	152283392	152283392	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:152283392C>T	ENST00000368799.1	-	3	4005	c.3970G>A	c.(3970-3972)Gac>Aac	p.D1324N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1324	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGTCTGCAGAGTGC	0.522									Ichthyosis																																							0			1											269	255	259					1																	152283392		2203	4300	6503	150550016	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3970G>A	1.37:g.152283392C>T	ENSP00000357789:p.Asp1324Asn		150550016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.488	0.861465	0.17178	.	.	ENSG00000143631	ENST00000368799	T	0.04454	3.62	3.76	1.74	0.24563	.	.	.	.	.	T	0.01523	0.0049	L	0.59436	1.845	0.09310	N	1	P	0.43857	0.819	B	0.36719	0.231	T	0.45862	-0.9232	9	0.17832	T	0.49	.	6.9652	0.24619	0.0:0.7534:0.0:0.2466	.	1324	P20930	FILA_HUMAN	N	1324	ENSP00000357789:D1324N	ENSP00000357789:D1324N	D	-	1	0	FLG	150550016	0.019000	0.18553	0.005000	0.12908	0.009000	0.06853	1.931000	0.40134	0.668000	0.31126	0.456000	0.33151	GAC		0.522	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152283392	C	T	152283392	3	4	153	1	0	0	0	0	1	0	0	0	5922	913	32	2	8219	2	FLG	1	152283392	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	155937	152283392	96967229	13	8527											
LCE3A	353142	genome.wustl.edu	37	1	152595322	152595322	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:152595322C>T	ENST00000335674.1	-	1	257	c.258G>A	c.(256-258)gcG>gcA	p.A86A		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	86					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGCAGCCCGCAGAACTGT	0.552																																																0			1											46	52	50					1																	152595322		2202	4298	6500	150861946	SO:0001819	synonymous_variant	353142				CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"Late cornified envelopes"	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.258G>A	1.37:g.152595322C>T			150861946		Silent	SNP	ENST00000335674.1	37	CCDS1017.1																																																																																				0.552	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431		T	152595322	C	T	152595322	2	4	153	1	0	0	0	0	0	0	0	1	8669	639	23	1		1	LCE3A	1	152595322	Silent	SNP	C	TCGA-13-2059-01A-01D-1526-09	311930	152595322	96655299	14	8528											
GON4L	54856	genome.wustl.edu	37	1	155735839	155735839	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:155735839G>A	ENST00000368331.1	-	21	3473	c.3425C>T	c.(3424-3426)tCt>tTt	p.S1142F	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.S1142F|GON4L_ENST00000437809.1_Missense_Mutation_p.S1142F|GON4L_ENST00000271883.5_Missense_Mutation_p.S1142F	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1142					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAGATAACAGATGCAGGGTG	0.527																																																0			1											165	155	159					1																	155735839		2203	4300	6503	154002463	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3425C>T	1.37:g.155735839G>A	ENSP00000357315:p.Ser1142Phe		154002463	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	13.38	2.220419	0.39201	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.13196	2.81;2.81;2.81;2.61	5.27	5.27	0.74061	.	0.093802	0.47455	D	0.000221	T	0.08980	0.0222	N	0.14661	0.345	0.31857	N	0.621442	P;P;P;P	0.48503	0.911;0.48;0.48;0.614	P;B;B;B	0.49953	0.627;0.225;0.085;0.176	T	0.02560	-1.1141	10	0.87932	D	0	.	18.6688	0.91502	0.0:0.0:1.0:0.0	.	1142;338;1142;1142	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	F	1142	ENSP00000396117:S1142F;ENSP00000357315:S1142F;ENSP00000271883:S1142F;ENSP00000354322:S1142F	ENSP00000271883:S1142F	S	-	2	0	GON4L	154002463	1.000000	0.71417	0.853000	0.33588	0.212000	0.24457	6.407000	0.73280	2.751000	0.94390	0.650000	0.86243	TCT		0.527	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		A	155735839	G	A	155735839	3	1	153	1	0	0	0	0	1	0	0	0	6572	942	33	2	3462	2	GON4L	1	155735839	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	3140517	155735839	93514782	15	8529											
CACNA1S	779	genome.wustl.edu	37	1	201081382	201081382	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:201081382C>A	ENST00000362061.3	-	1	312	c.86G>T	c.(85-87)cGg>cTg	p.R29L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R29L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	29					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAACAAGGCCCGGGGTGGCCT	0.607																																																0			1											107	95	99					1																	201081382		2203	4300	6503	199348005	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.86G>T	1.37:g.201081382C>A	ENSP00000355192:p.Arg29Leu		199348005	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089756	0.94149	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.54279	0.58;0.58	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.93507	3.425	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	D	0.85825	0.1388	10	0.87932	D	0	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	29	Q13698	CAC1S_HUMAN	L	29	ENSP00000355192:R29L;ENSP00000356307:R29L	ENSP00000355192:R29L	R	-	2	0	CACNA1S	199348005	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.318000	0.79029	2.536000	0.85505	0.561000	0.74099	CGG		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201081382	C	A	201081382	3	1	153	1	0	0	0	0	1	0	0	0	2547	652	23	3	5711	3	CACNA1S	1	201081382	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	45345543	201081382	48169239	16	8530											
CCDC141	285025	genome.wustl.edu	37	2	179702064	179702064	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr2:179702064G>C	ENST00000420890.2	-	23	3999	c.3882C>G	c.(3880-3882)ttC>ttG	p.F1294L	CCDC141_ENST00000295723.5_Missense_Mutation_p.F719L|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1294										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTCAGCTTTGAACTGGAGGT	0.473																																																0			2											100	99	99					2																	179702064		2203	4300	6503	179410309	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3882C>G	2.37:g.179702064G>C	ENSP00000395995:p.Phe1294Leu		179410309	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	G	1.503	-0.551650	0.03996	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.49432	0.78;1.31;1.32	5.43	2.62	0.31277	.	1.256550	0.05426	N	0.545145	T	0.34774	0.0909	L	0.27053	0.805	0.23016	N	0.998425	B;B	0.11235	0.002;0.004	B;B	0.11329	0.004;0.006	T	0.23511	-1.0186	10	0.25106	T	0.35	2.4429	6.3129	0.21174	0.2147:0.133:0.6523:0.0	.	719;719	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	L	1294;738;719	ENSP00000395995:F1294L;ENSP00000344627:F738L;ENSP00000295723:F719L	ENSP00000295723:F719L	F	-	3	2	CCDC141	179410309	1.000000	0.71417	0.161000	0.22692	0.021000	0.10359	1.783000	0.38664	0.240000	0.21263	0.655000	0.94253	TTC		0.473	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		C	179702064	G	C	179702064	3	2	153	1	0	0	0	0	1	0	0	0	2775	1281	45	3	474	3	CCDC141	2	179702064	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09		179702064	63497309	17	8531											
IKZF2	22807	genome.wustl.edu	37	2	213872134	213872134	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr2:213872134G>C	ENST00000434687.1	-	9	1840	c.1531C>G	c.(1531-1533)Cgt>Ggt	p.R511G	IKZF2_ENST00000451136.2_Missense_Mutation_p.R439G|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.R517G|IKZF2_ENST00000374327.4_Missense_Mutation_p.R366G|IKZF2_ENST00000421754.2_Missense_Mutation_p.R437G|IKZF2_ENST00000374319.4_Missense_Mutation_p.R485G|IKZF2_ENST00000457361.1_Missense_Mutation_p.R511G			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	511					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AACTCATAACGGTCCTGGCTT	0.483																																																0			2											119	109	113					2																	213872134		2203	4300	6503	213580379	SO:0001583	missense	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1531C>G	2.37:g.213872134G>C	ENSP00000412869:p.Arg511Gly		213580379	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191453	0.58017	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.61999	0.2392	M	0.62209	1.925	0.80722	D	1	D;P;D;D;P;D	0.89917	0.98;0.897;0.984;0.999;0.752;1.0	B;B;P;D;B;D	0.85130	0.35;0.35;0.715;0.983;0.206;0.997	T	0.63703	-0.6577	10	0.87932	D	0	-7.7515	14.5965	0.68410	0.0:0.0:0.8541:0.1459	.	439;437;366;485;511;289	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	G	511;517;511;485;439;437;366;215	ENSP00000410447:R511G;ENSP00000342876:R517G;ENSP00000412869:R511G;ENSP00000363439:R485G;ENSP00000395203:R439G;ENSP00000399574:R437G;ENSP00000363447:R366G	ENSP00000342876:R517G	R	-	1	0	IKZF2	213580379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.790000	0.99075	2.672000	0.90937	0.655000	0.94253	CGT		0.483	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		C	213872134	G	C	213872134	3	2	153	1	0	0	0	0	1	0	0	0	7615	1116	39	3	53	3	IKZF2	2	213872134	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	34170070	213872134	29327239	18	8532											
PLXNB1	5364	genome.wustl.edu	37	3	48452414	48452414	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr3:48452414C>G	ENST00000358536.4	-	29	5548	c.5279G>C	c.(5278-5280)gGg>gCg	p.G1760A	PLXNB1_ENST00000456774.1_Missense_Mutation_p.G1577A|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G1760A|PLXNB1_ENST00000448774.2_Missense_Mutation_p.G371A|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G1577A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1760					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCTCCTGCCCCAGGCCCCAC	0.577																																																0			3											46	42	44					3																	48452414		2203	4300	6503	48427418	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5279G>C	3.37:g.48452414C>G	ENSP00000351338:p.Gly1760Ala		48427418	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760576	0.31137	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.78	2.96	0.34315	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.830365	0.11307	N	0.577600	T	0.10337	0.0253	L	0.31120	0.905	0.34415	D	0.696761	B;B	0.31893	0.003;0.345	B;B	0.39503	0.029;0.301	T	0.21415	-1.0246	10	0.08381	T	0.77	.	11.7343	0.51757	0.0:0.6988:0.2298:0.0714	.	1760;1577	O43157;O43157-2	PLXB1_HUMAN;.	A	1760;1577;1760;371;1577	ENSP00000296440:G1760A;ENSP00000351242:G1577A;ENSP00000351338:G1760A;ENSP00000389320:G371A;ENSP00000414199:G1577A	ENSP00000296440:G1760A	G	-	2	0	PLXNB1	48427418	0.081000	0.21417	0.175000	0.22980	0.815000	0.46073	1.489000	0.35562	0.093000	0.17368	-0.797000	0.03246	GGG		0.577	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		G	48452414	C	G	48452414	3	3	153	1	0	0	0	0	1	0	0	0	12123	623	22	3	1168	3	PLXNB1	3	48452414	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09		48452414	149570016	19	8533											
FAM3D	131177	genome.wustl.edu	37	3	58635049	58635049	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr3:58635049C>G	ENST00000358781.2	-	4	448	c.138G>C	c.(136-138)aaG>aaC	p.K46N		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	46					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CACGGATCTCCTTGGTGGGCG	0.632																																																0			3											88	82	84					3																	58635049		2203	4300	6503	58610089	SO:0001583	missense	131177			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.138G>C	3.37:g.58635049C>G	ENSP00000351632:p.Lys46Asn		58610089	Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	C	6.367	0.435823	0.12104	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857;ENST00000498347	T;T;T;T	0.31510	1.58;1.93;1.49;1.58	3.66	1.29	0.21616	.	2.198370	0.01763	N	0.030684	T	0.28797	0.0714	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12192	-1.0557	10	0.16896	T	0.51	-0.1444	5.5545	0.17109	0.0:0.685:0.0:0.315	.	46	Q96BQ1	FAM3D_HUMAN	N	46;45;9;46	ENSP00000351632:K46N;ENSP00000417099:K45N;ENSP00000417453:K9N;ENSP00000418982:K46N	ENSP00000351632:K46N	K	-	3	2	FAM3D	58610089	0.027000	0.19231	0.011000	0.14972	0.060000	0.15804	1.011000	0.29911	0.272000	0.22027	0.491000	0.48974	AAG		0.632	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		G	58635049	C	G	58635049	3	3	153	1	0	0	0	0	1	0	0	0	5559	680	24	3	564	3	FAM3D	3	58635049	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	10182635	58635049	139387381	20	8534											
ARGFX	503582	genome.wustl.edu	37	3	121305004	121305004	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr3:121305004T>A	ENST00000334384.3	+	4	515	c.505T>A	c.(505-507)Tct>Act	p.S169T		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TTATGCTTTTTCTCCTGTGAT	0.498																																																0			3											177	162	167					3																	121305004		2203	4300	6503	122787694	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.505T>A	3.37:g.121305004T>A	ENSP00000335578:p.Ser169Thr		122787694		Missense_Mutation	SNP	ENST00000334384.3	37	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	T	4.943	0.175271	0.09391	.	.	ENSG00000186103	ENST00000334384	D	0.89270	-2.49	3.32	-2.43	0.06522	.	2.252040	0.02080	N	0.052262	T	0.72700	0.3493	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.66610	-0.5880	10	0.02654	T	1	2.5742	0.3464	0.00342	0.1918:0.2603:0.1963:0.3516	.	169	A6NJG6	ARGFX_HUMAN	T	169	ENSP00000335578:S169T	ENSP00000335578:S169T	S	+	1	0	ARGFX	122787694	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.028000	0.13644	-0.441000	0.07201	0.459000	0.35465	TCT		0.498	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		A	121305004	T	A	121305004	3	1	153	1	0	0	0	0	1	0	0	0	859	1783	62	5	519	5	ARGFX	3	121305004	Missense_Mutation	SNP	T	TCGA-13-2059-01A-01D-1526-09	62669955	121305004	76717426	21	8535											
CCDC112	153733	genome.wustl.edu	37	5	114605435	114605435	+	Missense_Mutation	SNP	G	G	C	rs368586091		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr5:114605435G>C	ENST00000512261.1	-	9	1560	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E	CCDC112_ENST00000506442.1_Intron|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382E|CCDC112_ENST00000379611.5_Missense_Mutation_p.Q465E			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	382										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTTGTTTTTGTGACTTTTCA	0.308																																																0			5											180	169	172					5																	114605435		2200	4294	6494	114633334	SO:0001583	missense	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1144C>G	5.37:g.114605435G>C	ENSP00000423712:p.Gln382Glu		114633334	Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	G	1.593	-0.528649	0.04112	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000395557	T;T;T	0.13538	2.59;2.58;2.58	5.35	3.57	0.40892	.	0.314007	0.33180	N	0.005185	T	0.02267	0.0070	N	0.00210	-1.845	0.21256	N	0.999748	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43114	-0.9411	10	0.02654	T	1	-8.6957	7.193	0.25837	0.0:0.6999:0.1477:0.1524	.	465;382	Q8NEF3-2;Q8NEF3	.;CC112_HUMAN	E	465;382;382	ENSP00000368931:Q465E;ENSP00000423712:Q382E;ENSP00000378925:Q382E	ENSP00000368931:Q465E	Q	-	1	0	CCDC112	114633334	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.700000	0.37815	0.743000	0.32719	-0.171000	0.13296	CAA		0.308	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		C	114605435	G	C	114605435	3	2	153	1	0	0	0	0	1	0	0	0	2749	1386	48	3	208	3	CCDC112	5	114605435	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09		114605435	66309825	22	8536											
PCDHA1	56147	genome.wustl.edu	37	5	140167318	140167318	+	Silent	SNP	C	C	T	rs562316404		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr5:140167318C>T	ENST00000504120.2	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA1_ENST00000394633.3_Silent_p.D481D|PCDHA1_ENST00000378133.3_Silent_p.D481D	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCGGGACGCGGACGCGC	0.652													.|||	1	0.000199681	0	0	5008	,	,		19134	0		0	False		,,,				2504	0.001															0			5											65	69	68					5																	140167318		2203	4299	6502	140147502	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1443C>T	5.37:g.140167318C>T			140147502	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																				0.652	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		T	140167318	C	T	140167318	2	4	153	1	0	0	0	0	0	0	0	1	11519	535	19	1		1	PCDHA1	5	140167318	Silent	SNP	C	TCGA-13-2059-01A-01D-1526-09	25561883	140167318	40747942	23	8537											
GABRA1	2554	genome.wustl.edu	37	5	161324363	161324363	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr5:161324363T>A	ENST00000428797.2	+	11	1661	c.1306T>A	c.(1306-1308)Tta>Ata	p.L436I	GABRA1_ENST00000023897.6_Missense_Mutation_p.L436I|GABRA1_ENST00000437025.2_Missense_Mutation_p.L436I|GABRA1_ENST00000420560.1_Missense_Mutation_p.L436I|GABRA1_ENST00000393943.4_Missense_Mutation_p.L436I|GABRA1_ENST00000444819.1_Missense_Mutation_p.L436I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	436					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AATCTTTAACTTAGTCTACTG	0.428																																																0			5											130	134	133					5																	161324363		2203	4300	6503	161256941	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1306T>A	5.37:g.161324363T>A	ENSP00000393097:p.Leu436Ile		161256941	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003650	0.74932	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.32	4.14	0.48551	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000001	D	0.85371	0.5681	L	0.28192	0.835	0.52099	D	0.999947	D	0.58620	0.983	P	0.58077	0.832	T	0.82859	-0.0249	10	0.27082	T	0.32	.	11.7242	0.51700	0.0:0.0729:0.0:0.9271	.	436	P14867	GBRA1_HUMAN	I	436	ENSP00000023897:L436I;ENSP00000393097:L436I;ENSP00000377517:L436I;ENSP00000415441:L436I;ENSP00000408041:L436I;ENSP00000414232:L436I	ENSP00000023897:L436I	L	+	1	2	GABRA1	161256941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.070000	0.41491	2.134000	0.65973	0.460000	0.39030	TTA		0.428	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		A	161324363	T	A	161324363	3	1	153	1	0	0	0	0	1	0	0	0	6160	1606	56	5	1340	5	GABRA1	5	161324363	Missense_Mutation	SNP	T	TCGA-13-2059-01A-01D-1526-09	21157045	161324363	19590897	24	8538											
DSP	1832	genome.wustl.edu	37	6	7583702	7583702	+	Silent	SNP	C	C	T	rs147398792		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:7583702C>T	ENST00000379802.3	+	24	6548	c.6207C>T	c.(6205-6207)gtC>gtT	p.V2069V	DSP_ENST00000418664.2_Silent_p.V1470V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2069	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCTGACTGTCGACAGTGCCA	0.473													C|||	1	0.000199681	0	0	5008	,	,		19053	0.001		0	False		,,,				2504	0															0			6						C	,	1,4405	2.1+/-5.4	0,1,2202	96	98	97		4410,6207	-10.2	0.3	6	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DSP	NM_001008844.1,NM_004415.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	1470/2273,2069/2872	7583702	1,13005	2203	4300	6503	7528701	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6207C>T	6.37:g.7583702C>T			7528701	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																				0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7583702	C	T	7583702	2	4	153	1	0	0	0	0	0	0	0	1	4781	871	31	1		1	DSP	6	7583702	Silent	SNP	C	TCGA-13-2059-01A-01D-1526-09		7583702	163531365	25	8539											
C6orf27	80737	genome.wustl.edu	37	6	31734964	31734964	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:31734964C>T	ENST00000375688.4	-	13	2053	c.1853G>A	c.(1852-1854)gGc>gAc	p.G618D	VWA7_ENST00000375686.3_Missense_Mutation_p.G618D|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000447450.1_Missense_Mutation_p.G618D			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	618						extracellular region (GO:0005576)											GGGGTAGAGGCCAGGGTGGGG	0.507																																																0			6											26	26	26					6																	31734964		2203	4299	6502	31842943	SO:0001583	missense	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1853G>A	6.37:g.31734964C>T	ENSP00000364840:p.Gly618Asp		31842943	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829398	0.71258	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.34667	2.51;2.29;1.35	5.82	4.96	0.65561	.	0.119204	0.53938	D	0.000045	T	0.28067	0.0692	L	0.36672	1.1	0.35045	D	0.760118	D	0.55605	0.972	P	0.58130	0.833	T	0.10405	-1.0631	10	0.30078	T	0.28	-11.0423	10.7781	0.46361	0.0:0.9131:0.0:0.0869	.	618	Q9Y334	G7C_HUMAN	D	618	ENSP00000364840:G618D;ENSP00000364838:G618D;ENSP00000390554:G618D	ENSP00000364838:G618D	G	-	2	0	C6orf27	31842943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.500000	0.53318	1.483000	0.48342	0.555000	0.69702	GGC		0.507	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		T	31734964	C	T	31734964	3	4	153	1	0	0	0	0	1	0	0	0	2362	739	26	2	841	2	C6orf27	6	31734964	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	24151262	31734964	139380103	26	8540											
DNAH8	1769	genome.wustl.edu	37	6	38825381	38825381	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:38825381G>T	ENST00000359357.3	+	40	5424	c.5170G>T	c.(5170-5172)Gtg>Ttg	p.V1724L	DNAH8_ENST00000441566.1_Missense_Mutation_p.V1724L|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1941L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1724					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATCATGCAAGTGACCAATCA	0.383																																																0			6											115	112	113					6																	38825381		2203	4300	6503	38933359	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5170G>T	6.37:g.38825381G>T	ENSP00000352312:p.Val1724Leu		38933359	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	11.43	1.637845	0.29157	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.23950	1.93;1.92;1.88	5.75	-1.87	0.07737	.	1.110040	0.06605	N	0.754601	T	0.06142	0.0159	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40117	-0.9580	10	0.39692	T	0.17	.	2.8741	0.05626	0.4677:0.1151:0.2998:0.1175	.	1724	Q96JB1	DYH8_HUMAN	L	1929;1929;1724;1724	ENSP00000333363:V1929L;ENSP00000352312:V1724L;ENSP00000402294:V1724L	ENSP00000333363:V1929L	V	+	1	0	DNAH8	38933359	0.000000	0.05858	0.067000	0.19924	0.905000	0.53344	-0.274000	0.08537	-0.131000	0.11578	-0.136000	0.14681	GTG		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38825381	G	T	38825381	3	4	153	1	0	0	0	0	1	0	0	0	4607	1029	36	3	5320	3	DNAH8	6	38825381	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	7090417	38825381	132289686	27	8541											
TDRD6	221400	genome.wustl.edu	37	6	46657423	46657423	+	Missense_Mutation	SNP	A	A	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:46657423A>C	ENST00000316081.6	+	1	1558	c.1558A>C	c.(1558-1560)Atg>Ctg	p.M520L	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.M520L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	520					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GATGAGGAGAATGTGTGGTTT	0.413																																																0			6											130	124	126					6																	46657423		2203	4300	6503	46765382	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1558A>C	6.37:g.46657423A>C	ENSP00000346065:p.Met520Leu		46765382	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	8.846	0.943371	0.18281	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.06608	3.28;3.28	5.88	5.88	0.94601	Maternal tudor protein (1);	0.185551	0.64402	D	0.000011	T	0.02119	0.0066	L	0.33189	0.99	0.37922	D	0.931721	B;B	0.32526	0.066;0.374	B;B	0.28991	0.058;0.097	T	0.52533	-0.8563	10	0.20519	T	0.43	-18.3556	11.6976	0.51553	0.8676:0.0:0.0:0.1324	.	520;520	F5H5M3;O60522	.;TDRD6_HUMAN	L	520	ENSP00000443299:M520L;ENSP00000346065:M520L	ENSP00000346065:M520L	M	+	1	0	TDRD6	46765382	0.997000	0.39634	0.930000	0.37139	0.686000	0.39977	3.663000	0.54518	2.242000	0.73789	0.533000	0.62120	ATG		0.413	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		C	46657423	A	C	46657423	3	2	153	1	0	0	0	0	1	0	0	0	15734	101	4	5	1560	5	TDRD6	6	46657423	Missense_Mutation	SNP	A	TCGA-13-2059-01A-01D-1526-09	7832042	46657423	124457644	28	8542											
RAET1G	353091	genome.wustl.edu	37	6	150240387	150240387	+	Silent	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:150240387G>A	ENST00000367360.2	-	3	490	c.423C>T	c.(421-423)ctC>ctT	p.L141L	RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Silent_p.L141L	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CATCGAAACTGAGCTGCCAAG	0.512																																																0			6											175	164	168					6																	150240387		2203	4300	6503	150282080	SO:0001819	synonymous_variant	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.423C>T	6.37:g.150240387G>A			150282080		Silent	SNP	ENST00000367360.2	37	CCDS43514.1																																																																																				0.512	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			A	150240387	G	A	150240387	2	1	153	1	0	0	0	0	0	0	0	1	13003	1277	45	2		2	RAET1G	6	150240387	Silent	SNP	G	TCGA-13-2059-01A-01D-1526-09	103582964	150240387	20874680	29	8543											
CYP2W1	54905	genome.wustl.edu	37	7	1026401	1026401	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:1026401A>T	ENST00000308919.7	+	5	800	c.787A>T	c.(787-789)Agc>Tgc	p.S263C	CYP2W1_ENST00000340150.6_Missense_Mutation_p.S207C	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	263					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCCCGTGTGCAGCTATGTGGA	0.687																																																0			7											20	21	21					7																	1026401		2188	4292	6480	992927	SO:0001583	missense	54905			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.787A>T	7.37:g.1026401A>T	ENSP00000310149:p.Ser263Cys		992927		Missense_Mutation	SNP	ENST00000308919.7	37	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274206	0.23221	.	.	ENSG00000073067	ENST00000308919;ENST00000340150;ENST00000415893	T;T;T	0.79940	-1.32;-1.32;-1.32	4.05	1.55	0.23275	.	0.265469	0.46145	D	0.000308	T	0.77519	0.4142	N	0.16602	0.42	0.27400	N	0.954875	B;D	0.71674	0.18;0.998	B;D	0.70016	0.178;0.967	T	0.68640	-0.5355	10	0.87932	D	0	.	7.0297	0.24960	0.7116:0.0:0.2884:0.0	.	207;263	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	C	263;207;37	ENSP00000310149:S263C;ENSP00000344178:S207C;ENSP00000392581:S37C	ENSP00000310149:S263C	S	+	1	0	CYP2W1	992927	0.984000	0.35163	0.223000	0.23860	0.014000	0.08584	0.936000	0.28938	0.227000	0.20999	0.459000	0.35465	AGC		0.687	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		T	1026401	A	T	1026401	3	4	153	1	0	0	0	0	1	0	0	0	4176	188	7	5	805	5	CYP2W1	7	1026401	Missense_Mutation	SNP	A	TCGA-13-2059-01A-01D-1526-09		1026401	158112262	30	8544											
CHST12	55501	genome.wustl.edu	37	7	2472615	2472615	+	Missense_Mutation	SNP	G	G	T	rs201387415	byFrequency	TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:2472615G>T	ENST00000258711.6	+	2	476	c.341G>T	c.(340-342)aGc>aTc	p.S114I		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	114					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCCGGCGCAGCCCAGACCAG	0.716																																																0			7											19	24	23					7																	2472615		2178	4274	6452	2439141	SO:0001583	missense	55501			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.341G>T	7.37:g.2472615G>T	ENSP00000258711:p.Ser114Ile		2439141	A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	3.822	-0.037632	0.07497	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.61980	0.06;0.88	5.09	-2.53	0.06326	.	0.965857	0.08590	N	0.923121	T	0.49881	0.1583	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38950	-0.9637	10	0.36615	T	0.2	-24.5035	6.0373	0.19714	0.4334:0.0:0.3793:0.1873	.	114	Q9NRB3	CHSTC_HUMAN	I	114	ENSP00000258711:S114I;ENSP00000411207:S114I	ENSP00000258711:S114I	S	+	2	0	CHST12	2439141	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.132000	0.10467	-0.378000	0.07918	-0.254000	0.11334	AGC		0.716	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		T	2472615	G	T	2472615	3	4	153	1	0	0	0	0	1	0	0	0	3400	971	34	3	343	3	CHST12	7	2472615	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	1446214	2472615	156666048	31	8545											
AHR	196	genome.wustl.edu	37	7	17378784	17378784	+	Silent	SNP	T	T	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:17378784T>G	ENST00000242057.4	+	10	1978	c.1335T>G	c.(1333-1335)acT>acG	p.T445T	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	445					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CCACATCCACTCTAAGCAAGG	0.443																																																0			7											123	112	116					7																	17378784		2203	4300	6503	17345309	SO:0001819	synonymous_variant	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1335T>G	7.37:g.17378784T>G			17345309	A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	CCDS5366.1																																																																																				0.443	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		G	17378784	T	G	17378784	2	3	153	1	0	0	0	0	0	0	0	1	416	1538	54	5		5	AHR	7	17378784	Silent	SNP	T	TCGA-13-2059-01A-01D-1526-09	14906169	17378784	141759879	32	8546											
ZNF713	349075	genome.wustl.edu	37	7	55980378	55980378	+	Nonsense_Mutation	SNP	G	G	T	rs367619077		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:55980378G>T	ENST00000429591.2	+	1	48	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	MRPS17_ENST00000426595.1_Nonsense_Mutation_p.E4*|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	4	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CATGGAGGAGGAAGAAATGAA	0.403																																																0			7											130	124	126					7																	55980378		2203	4300	6503	55947872	SO:0001587	stop_gained	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.10G>T	7.37:g.55980378G>T	ENSP00000416662:p.Glu4*		55947872		Nonsense_Mutation	SNP	ENST00000429591.2	37	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	A	44	11.062367	0.99510	.	.	ENSG00000249773;ENSG00000178665	ENST00000426595;ENST00000429591	.	.	.	2.62	1.47	0.22746	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	4.5759	0.12234	0.7002:0.0:0.2998:0.0	.	.	.	.	X	4	.	ENSP00000390331:E4X	E	+	1	0	RP11-15K19.2;ZNF713	55947872	0.012000	0.17670	0.799000	0.32177	0.921000	0.55340	0.523000	0.22925	0.037000	0.15575	-0.360000	0.07572	GAA		0.403	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		T	55980378	G	T	55980378	4	4	153	1	0	0	0	0	0	1	0	0	18117	1175	41	3	12	3	ZNF713	7	55980378	Nonsense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	38601594	55980378	103158285	33	8547											
PTPRZ1	5803	genome.wustl.edu	37	7	121691510	121691510	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:121691510G>C	ENST00000393386.2	+	24	6524	c.6113G>C	c.(6112-6114)aGt>aCt	p.S2038T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S1171T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2038	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATACAGCAGAGTGACTATTCT	0.378																																																0			7											94	96	95					7																	121691510		2203	4300	6503	121478746	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6113G>C	7.37:g.121691510G>C	ENSP00000377047:p.Ser2038Thr		121478746	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948137	0.34377	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11169	2.8;2.8	5.63	4.73	0.59995	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.067375	0.64402	D	0.000007	T	0.11707	0.0285	L	0.41492	1.28	0.26883	N	0.967495	B;B;B	0.31968	0.001;0.154;0.349	B;B;B	0.35312	0.004;0.167;0.2	T	0.15150	-1.0447	10	0.16896	T	0.51	.	16.4255	0.83813	0.0:0.1316:0.8684:0.0	.	1177;1171;2038	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	T	2038;1171	ENSP00000377047:S2038T;ENSP00000410000:S1171T	ENSP00000377047:S2038T	S	+	2	0	PTPRZ1	121478746	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.323000	0.65858	1.330000	0.45394	0.650000	0.86243	AGT		0.378	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		C	121691510	G	C	121691510	3	2	153	1	0	0	0	0	1	0	0	0	12817	1029	36	3	6207	3	PTPRZ1	7	121691510	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	65711132	121691510	37447153	34	8548											
EPHB6	2051	genome.wustl.edu	37	7	142566375	142566375	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:142566375G>A	ENST00000392957.2	+	15	2951	c.2164G>A	c.(2164-2166)Gtg>Atg	p.V722M	EPHB6_ENST00000411471.2_Missense_Mutation_p.V445M|EPHB6_ENST00000442129.1_Missense_Mutation_p.V722M	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	722	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCGGGCCGCAGTGCTGGGTCA	0.687																																																0			7											29	30	30					7																	142566375		2203	4300	6503	142276497	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2164G>A	7.37:g.142566375G>A	ENSP00000376684:p.Val722Met		142276497	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560905	0.45590	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.63580	-0.05;-0.05;-0.05	5.15	2.19	0.27852	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.376195	0.19232	N	0.119386	T	0.49287	0.1548	N	0.17800	0.525	0.38470	D	0.947458	P;P	0.39920	0.695;0.646	P;B	0.45232	0.474;0.343	T	0.52177	-0.8610	10	0.87932	D	0	.	6.9722	0.24654	0.1065:0.4422:0.4513:0.0	.	722;445	O15197;O15197-2	EPHB6_HUMAN;.	M	722;722;445	ENSP00000376684:V722M;ENSP00000410789:V722M;ENSP00000409061:V445M	ENSP00000376684:V722M	V	+	1	0	EPHB6	142276497	0.986000	0.35501	0.548000	0.28192	0.462000	0.32619	2.524000	0.45589	0.580000	0.29522	0.491000	0.48974	GTG		0.687	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			A	142566375	G	A	142566375	3	1	153	1	0	0	0	0	1	0	0	0	5178	1029	36	2	2206	2	EPHB6	7	142566375	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	20874865	142566375	16572288	35	8549											
SNTG1	54212	genome.wustl.edu	37	8	51449358	51449358	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:51449358G>T	ENST00000522124.1	+	11	1331	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	SNTG1_ENST00000276467.5_Missense_Mutation_p.D224Y|SNTG1_ENST00000517473.1_Missense_Mutation_p.D224Y|SNTG1_ENST00000518864.1_Missense_Mutation_p.D224Y	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	224					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCCCGGCACAGATTTGAGTCG	0.473																																																0			8											189	172	178					8																	51449358		2203	4300	6503	51611911	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.670G>T	8.37:g.51449358G>T	ENSP00000429842:p.Asp224Tyr		51611911	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553353	0.45487	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	4.91	4.91	0.64330	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.969;0.994	D	0.84241	0.0472	10	0.87932	D	0	.	16.6713	0.85267	0.0:0.0:1.0:0.0	.	224;224	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	Y	224	ENSP00000429276:D224Y;ENSP00000429842:D224Y;ENSP00000431123:D224Y;ENSP00000276467:D224Y	ENSP00000276467:D224Y	D	+	1	0	SNTG1	51611911	1.000000	0.71417	0.060000	0.19600	0.039000	0.13416	8.032000	0.88838	2.281000	0.76405	0.491000	0.48974	GAT		0.473	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			T	51449358	G	T	51449358	3	4	153	1	0	0	0	0	1	0	0	0	14877	942	33	3	704	3	SNTG1	8	51449358	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09		51449358	94914664	36	8550											
OPRK1	4986	genome.wustl.edu	37	8	54142199	54142199	+	Silent	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:54142199G>A	ENST00000265572.3	-	4	1098	c.801C>T	c.(799-801)cgC>cgT	p.R267R	OPRK1_ENST00000524278.1_Silent_p.R178R|OPRK1_ENST00000520287.1_Silent_p.R267R|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	267					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TACGCAGGTTGCGATCTTTCT	0.567																																																0			8											78	85	83					8																	54142199		2203	4300	6503	54304752	SO:0001819	synonymous_variant	4986				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.801C>T	8.37:g.54142199G>A			54304752	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																				0.567	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			A	54142199	G	A	54142199	2	1	153	1	0	0	0	0	0	0	0	1	10885	1306	46	2		2	OPRK1	8	54142199	Silent	SNP	G	TCGA-13-2059-01A-01D-1526-09	2692841	54142199	92221823	37	8551											
CA3	761	genome.wustl.edu	37	8	86358467	86358467	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:86358467T>G	ENST00000285381.2	+	6	687	c.604T>G	c.(604-606)Tgc>Ggc	p.C202G	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	202					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	CACGCCGCCCTGCGAGGAATG	0.602																																																0			8											67	54	59					8																	86358467		2203	4300	6503	86545719	SO:0001583	missense	761			AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"Carbonic anhydrases"	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.604T>G	8.37:g.86358467T>G	ENSP00000285381:p.Cys202Gly		86545719	B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248261	0.80024	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.55588	0.51	6.07	6.07	0.98685	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.104411	0.64402	D	0.000001	T	0.81950	0.4931	H	0.97635	4.045	0.49798	D	0.999828	D	0.76494	0.999	D	0.68621	0.959	D	0.88088	0.2811	10	0.66056	D	0.02	-24.4279	15.8088	0.78538	0.0:0.0:0.0:1.0	.	202	P07451	CAH3_HUMAN	G	202;186	ENSP00000285381:C202G	ENSP00000285381:C202G	C	+	1	0	CA3	86545719	0.994000	0.37717	0.996000	0.52242	0.964000	0.63967	3.161000	0.50747	2.330000	0.79161	0.528000	0.53228	TGC		0.602	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		G	86358467	T	G	86358467	3	3	153	1	0	0	0	0	1	0	0	0	2517	1580	55	5	626	5	CA3	8	86358467	Missense_Mutation	SNP	T	TCGA-13-2059-01A-01D-1526-09	32216268	86358467	60005555	38	8552											
NBN	4683	genome.wustl.edu	37	8	90994998	90994998	+	Silent	SNP	G	G	A	rs587781891		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:90994998G>A	ENST00000265433.3	-	2	277	c.123C>T	c.(121-123)atC>atT	p.I41I	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	41	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GATTTCGGCTGATCGACTGAT	0.378								Homologous recombination																																								0			8											135	125	129					8																	90994998		2203	4300	6503	91064174	SO:0001819	synonymous_variant	4683			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.123C>T	8.37:g.90994998G>A			91064174	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	CCDS6249.1																																																																																				0.378	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		A	90994998	G	A	90994998	2	1	153	1	0	0	0	0	0	0	0	1	10191	1280	45	2		2	NBN	8	90994998	Silent	SNP	G	TCGA-13-2059-01A-01D-1526-09	4636531	90994998	55369024	39	8553											
EIF3E	3646	genome.wustl.edu	37	8	109215647	109215647	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:109215647T>C	ENST00000220849.5	-	11	1209	c.1147A>G	c.(1147-1149)Aag>Gag	p.K383E	EIF3E_ENST00000519517.1_5'Flank|EIF3E_ENST00000519030.1_Missense_Mutation_p.K290E	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GAATCAATCTTGGCATCCAGT	0.323																																					GBM(15;360 410 8460 34179 52246)											0			8											130	125	127					8																	109215647		2203	4299	6502	109284823	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1147A>G	8.37:g.109215647T>C	ENSP00000220849:p.Lys383Glu		109284823		Missense_Mutation	SNP	ENST00000220849.5	37	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.8|27.8	4.868474|4.868474	0.91587|0.91587	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000220849;ENST00000519030|ENST00000522352	T;T|.	0.37058|.	1.22;1.22|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88040|0.88040	0.6330|0.6330	H|H	0.96916|0.96916	3.905|3.905	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	D|D	0.92025|0.92025	0.5629|0.5629	10|5	0.87932|.	D|.	0|.	-16.9826|-16.9826	15.9589|15.9589	0.79910|0.79910	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	383|.	P60228|.	EIF3E_HUMAN|.	E|R	383;290|93	ENSP00000220849:K383E;ENSP00000428796:K290E|.	ENSP00000220849:K383E|.	K|Q	-|-	1|2	0|0	EIF3E|EIF3E	109284823|109284823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.018000|8.018000	0.88722|0.88722	2.178000|2.178000	0.69098|0.69098	0.477000|0.477000	0.44152|0.44152	AAG|CAA		0.323	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		C	109215647	T	C	109215647	3	2	153	1	0	0	0	0	1	0	0	0	5015	1821	63	4	202	4	EIF3E	8	109215647	Missense_Mutation	SNP	T	TCGA-13-2059-01A-01D-1526-09	18220649	109215647	37148375	40	8554											
GPR20	2843	genome.wustl.edu	37	8	142367108	142367108	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:142367108C>A	ENST00000377741.3	-	2	1006	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	306					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGGACGGTGGCCTGGAAGCCA	0.647																																																0			8											79	66	70					8																	142367108		2203	4300	6503	142436290	SO:0001583	missense	2843			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.916G>T	8.37:g.142367108C>A	ENSP00000366970:p.Ala306Ser		142436290	Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102977	0.20632	.	.	ENSG00000204882	ENST00000377741	T	0.36520	1.25	5.21	4.33	0.51752	.	0.162047	0.40728	U	0.001023	T	0.15046	0.0363	N	0.16656	0.425	0.35885	D	0.82925	P	0.34864	0.473	B	0.24848	0.056	T	0.16424	-1.0403	10	0.06494	T	0.89	-25.1832	7.2022	0.25887	0.261:0.6545:0.0:0.0845	.	306	Q99678	GPR20_HUMAN	S	306	ENSP00000366970:A306S	ENSP00000366970:A306S	A	-	1	0	GPR20	142436290	0.973000	0.33851	0.999000	0.59377	0.956000	0.61745	0.811000	0.27198	1.177000	0.42855	0.561000	0.74099	GCC		0.647	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		A	142367108	C	A	142367108	3	1	153	1	0	0	0	0	1	0	0	0	6680	739	26	3	164	3	GPR20	8	142367108	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	33151461	142367108	3996914	41	8555											
TSNARE1	203062	genome.wustl.edu	37	8	143381940	143381940	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:143381940C>A	ENST00000307180.3	-	10	1314	c.1197G>T	c.(1195-1197)atG>atT	p.M399I	TSNARE1_ENST00000524325.1_Missense_Mutation_p.M398I|TSNARE1_ENST00000519651.1_Missense_Mutation_p.M180I|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.M399I	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	399					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCCTGCCACATGTTGTCAC	0.607																																																0			8											79	72	74					8																	143381940		2203	4300	6503	143379847	SO:0001583	missense	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1197G>T	8.37:g.143381940C>A	ENSP00000303437:p.Met399Ile		143379847	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.601867	0.00849	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.76	-0.305	0.12784	t-SNARE (1);	2.770580	0.01858	U	0.036425	T	0.15046	0.0363	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.22626	-1.0211	10	0.46703	T	0.11	-20.58	3.4176	0.07381	0.3049:0.4355:0.0:0.2596	.	398;180;399;400	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	I	398;399;399;180	ENSP00000428763:M398I;ENSP00000303437:M399I;ENSP00000427770:M399I;ENSP00000429679:M180I	ENSP00000303437:M399I	M	-	3	0	TSNARE1	143379847	0.000000	0.05858	0.009000	0.14445	0.067000	0.16453	-0.444000	0.06854	-0.143000	0.11334	-0.899000	0.02877	ATG		0.607	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		A	143381940	C	A	143381940	3	1	153	1	0	0	0	0	1	0	0	0	16630	478	17	3	360	3	TSNARE1	8	143381940	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	1014832	143381940	2982082	42	8556											
PLAA	9373	genome.wustl.edu	37	9	26919314	26919314	+	Missense_Mutation	SNP	A	A	T	rs144918422		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr9:26919314A>T	ENST00000397292.3	-	9	1828	c.1411T>A	c.(1411-1413)Ttt>Att	p.F471I	PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.F471I	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	471					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTACCTGTAAATGGATCTGAA	0.308																																					Melanoma(175;2670 2735 14091 35526)											0			9																																								26909314	SO:0001583	missense	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1411T>A	9.37:g.26919314A>T	ENSP00000380460:p.Phe471Ile		26909314	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.822179|4.822179	0.90873|0.90873	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.61742|.	0.08;0.38|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74703|0.74703	0.3751|0.3751	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D;D|.	0.56968|.	0.972;0.978|.	P;P|.	0.50825|.	0.647;0.651|.	T|T	0.75780|0.75780	-0.3197|-0.3197	10|5	0.72032|.	D|.	0.01|.	-15.8856|-15.8856	15.3063|15.3063	0.73995|0.73995	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	471;471|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	I|N	471|143;20	ENSP00000380460:F471I;ENSP00000429372:F471I|.	ENSP00000380460:F471I|.	F|I	-|-	1|2	0|0	PLAA|PLAA	26909314|26909314	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.976000|0.976000	0.68499|0.68499	7.013000|7.013000	0.76373|0.76373	2.008000|2.008000	0.58898|0.58898	0.482000|0.482000	0.46254|0.46254	TTT|ATT		0.308	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		T	26919314	A	T	26919314	3	4	153	1	0	0	0	0	1	0	0	0	12011	101	4	5	1000	5	PLAA	9	26919314	Missense_Mutation	SNP	A	TCGA-13-2059-01A-01D-1526-09		26919314	114294117	43	8557											
PCSK5	5125	genome.wustl.edu	37	9	78710934	78710934	+	Silent	SNP	C	C	T	rs370286991		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr9:78710934C>T	ENST00000545128.1	+	8	1561	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	PCSK5_ENST00000376752.4_Silent_p.S341S|PCSK5_ENST00000376767.3_Silent_p.S341S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	341	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGCAGAAAGCGGAAAGAAAC	0.512																																																0			9						C	,	1,4405	2.1+/-5.4	0,1,2202	165	132	143		1023,1023	-11.5	0.2	9		143	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCSK5	NM_001190482.1,NM_006200.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	341/1861,341/914	78710934	1,13005	2203	4300	6503	77900754	SO:0001819	synonymous_variant	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1023C>T	9.37:g.78710934C>T			77900754	F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	CCDS55320.1																																																																																				0.512	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	78710934	C	T	78710934	2	4	153	1	0	0	0	0	0	0	0	1	11603	767	27	1		1	PCSK5	9	78710934	Silent	SNP	C	TCGA-13-2059-01A-01D-1526-09	51791620	78710934	62502497	44	8558											
LAMC3	10319	genome.wustl.edu	37	9	133911674	133911674	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr9:133911674C>G	ENST00000361069.4	+	4	1064	c.931C>G	c.(931-933)Cgc>Ggc	p.R311G	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	311	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTTCCAGGACCGCCCGTGGGC	0.701																																																0			9											21	25	24					9																	133911674		2191	4291	6482	132901495	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.931C>G	9.37:g.133911674C>G	ENSP00000354360:p.Arg311Gly		132901495	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333300	0.60853	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.61627	0.09	5.06	5.06	0.68205	EGF-like, laminin (4);	0.058151	0.64402	D	0.000002	D	0.84192	0.5418	H	0.96720	3.87	0.58432	D	0.999993	D	0.69078	0.997	D	0.76071	0.987	D	0.89856	0.4013	10	0.72032	D	0.01	.	17.3931	0.87437	0.0:1.0:0.0:0.0	.	311	Q9Y6N6	LAMC3_HUMAN	G	311	ENSP00000354360:R311G	ENSP00000325873:R311G	R	+	1	0	LAMC3	132901495	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	2.420000	0.44679	2.334000	0.79466	0.462000	0.41574	CGC		0.701	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		G	133911674	C	G	133911674	3	3	153	1	0	0	0	0	1	0	0	0	8616	652	23	3	945	3	LAMC3	9	133911674	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	55200740	133911674	7301757	45	8559											
MYO3A	53904	genome.wustl.edu	37	10	26286103	26286103	+	Missense_Mutation	SNP	C	C	A	rs140301218	byFrequency	TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr10:26286103C>A	ENST00000265944.5	+	6	590	c.424C>A	c.(424-426)Cat>Aat	p.H142N	MYO3A_ENST00000376301.1_Missense_Mutation_p.H142N|MYO3A_ENST00000543632.1_Missense_Mutation_p.H142N|MYO3A_ENST00000376302.1_Missense_Mutation_p.H142N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCAACATTTGCATAACAACAA	0.308																																																0			10											80	76	77					10																	26286103		2203	4297	6500	26326109	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.424C>A	10.37:g.26286103C>A	ENSP00000265944:p.His142Asn		26326109	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580449	0.86645	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.41	5.41	0.78517	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	D	0.94928	0.8360	H	0.95504	3.68	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	D	0.95111	0.8238	10	0.46703	T	0.11	.	19.1769	0.93605	0.0:1.0:0.0:0.0	.	142;142;142;142	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	N	142	ENSP00000265944:H142N;ENSP00000365479:H142N;ENSP00000445909:H142N;ENSP00000365478:H142N	ENSP00000265944:H142N	H	+	1	0	MYO3A	26326109	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.497000	0.81536	2.697000	0.92050	0.591000	0.81541	CAT		0.308	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26286103	C	A	26286103	3	1	153	1	0	0	0	0	1	0	0	0	10076	710	25	3	438	3	MYO3A	10	26286103	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09		26286103	109248644	46	8560											
SEC23IP	11196	genome.wustl.edu	37	10	121677541	121677541	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr10:121677541G>T	ENST00000369075.3	+	9	1810	c.1738G>T	c.(1738-1740)Gct>Tct	p.A580S	SEC23IP_ENST00000543134.1_Missense_Mutation_p.A369S	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	580					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTCTCTGTTGCTGGTCACAG	0.373																																																0			10											85	84	84					10																	121677541		2203	4300	6503	121667531	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1738G>T	10.37:g.121677541G>T	ENSP00000358071:p.Ala580Ser		121667531	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810795	0.50421	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.41758	0.99;0.99	5.62	5.62	0.85841	.	0.141664	0.64402	D	0.000007	T	0.40815	0.1132	L	0.37630	1.12	0.54753	D	0.999983	P;P	0.45672	0.825;0.864	B;B	0.44315	0.446;0.423	T	0.05273	-1.0895	10	0.20519	T	0.43	-24.4866	20.024	0.97514	0.0:0.0:1.0:0.0	.	369;580	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	S	580;369	ENSP00000358071:A580S;ENSP00000438773:A369S	ENSP00000358071:A580S	A	+	1	0	SEC23IP	121667531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.388000	0.59633	2.809000	0.96659	0.655000	0.94253	GCT		0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			T	121677541	G	T	121677541	3	4	153	1	0	0	0	0	1	0	0	0	13996	1319	46	3	1772	3	SEC23IP	10	121677541	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	95391438	121677541	13857206	47	8561											
DPYSL4	10570	genome.wustl.edu	37	10	134012382	134012382	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr10:134012382G>C	ENST00000338492.4	+	8	882	c.718G>C	c.(718-720)Gtc>Ctc	p.V240L	DPYSL4_ENST00000368627.1_Missense_Mutation_p.V140L|DPYSL4_ENST00000368629.1_Missense_Mutation_p.V140L	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	240					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GTACCGAGCTGTCACCATCGC	0.652																																																0			10											81	68	72					10																	134012382		2203	4299	6502	133862372	SO:0001583	missense	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.718G>C	10.37:g.134012382G>C	ENSP00000339850:p.Val240Leu		133862372	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821510	0.32237	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.89875	-2.58;-2.58;-2.58	3.66	-4.04	0.04010	Amidohydrolase 1 (1);	0.617453	0.14444	N	0.319192	T	0.70509	0.3232	N	0.01482	-0.84	0.20703	N	0.999861	B	0.23490	0.086	B	0.25759	0.063	T	0.59537	-0.7436	10	0.62326	D	0.03	-18.7234	13.1904	0.59706	0.8602:0.0:0.1398:0.0	.	240	O14531	DPYL4_HUMAN	L	240;140;140	ENSP00000339850:V240L;ENSP00000357618:V140L;ENSP00000357616:V140L	ENSP00000339850:V240L	V	+	1	0	DPYSL4	133862372	0.021000	0.18746	0.133000	0.22050	0.701000	0.40568	0.340000	0.19892	-0.773000	0.04596	-0.377000	0.06932	GTC		0.652	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			C	134012382	G	C	134012382	3	2	153	1	0	0	0	0	1	0	0	0	4749	1377	48	3	748	3	DPYSL4	10	134012382	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	12334841	134012382	1522365	48	8562											
OR52I2	143502	genome.wustl.edu	37	11	4608093	4608093	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr11:4608093C>T	ENST00000312614.4	+	1	73	c.51C>T	c.(49-51)tgC>tgT	p.C17C		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCATTTGTGCATTAACAGGA	0.458																																																0			11											106	94	98					11																	4608093		2201	4298	6499	4564669	SO:0001819	synonymous_variant	143502			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.51C>T	11.37:g.4608093C>T			4564669	B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	CCDS31355.1																																																																																				0.458	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		T	4608093	C	T	4608093	2	4	153	1	0	0	0	0	0	0	0	1	11121	718	25	2		2	OR52I2	11	4608093	Silent	SNP	C	TCGA-13-2059-01A-01D-1526-09		4608093	130398423	49	8563											
OLFML1	283298	genome.wustl.edu	37	11	7531332	7531332	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr11:7531332C>T	ENST00000329293.3	+	3	1516	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Silent_p.N374N	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	374	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCATTACAACCCCAGAGATA	0.463																																																0			11											78	69	72					11																	7531332		2201	4296	6497	7487908	SO:0001819	synonymous_variant	283298			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1122C>T	11.37:g.7531332C>T			7487908	B4DP03|Q569G4	Silent	SNP	ENST00000329293.3	37	CCDS7779.1																																																																																				0.463	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		T	7531332	C	T	7531332	2	4	153	1	0	0	0	0	0	0	0	1	10856	506	18	2		2	OLFML1	11	7531332	Silent	SNP	C	TCGA-13-2059-01A-01D-1526-09	2923239	7531332	127475184	50	8564											
CACNA1C	775	genome.wustl.edu	37	12	2690847	2690847	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:2690847A>T	ENST00000347598.4	+	14	1987	c.1987A>T	c.(1987-1989)Atc>Ttc	p.I663F	CACNA1C_ENST00000399597.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.I663F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.I663F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.I663F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399655.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.I688F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.I663F	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	663					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	cctcttcatcatcatcttctc	0.542																																																0			12											112	113	112					12																	2690847		2203	4300	6503	2561108	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1987A>T	12.37:g.2690847A>T	ENSP00000266376:p.Ile663Phe		2561108	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199206	0.79015	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	4.41	4.41	0.53225	Ion transport (1);	0.110120	0.64402	D	0.000009	D	0.96950	0.9004	N	0.22421	0.69	0.58432	D	0.999998	D;D;P;D;D;D;D;B;D;D;D;P;P;D;P;B;D;D;D;D;D;D;D;D;D	0.67145	0.98;0.988;0.725;0.991;0.996;0.988;0.992;0.445;0.977;0.996;0.974;0.507;0.534;0.99;0.724;0.277;0.964;0.992;0.964;0.974;0.992;0.992;0.974;0.96;0.974	P;P;P;P;P;P;P;P;P;P;P;P;B;P;P;B;P;P;P;P;P;P;P;D;P	0.66979	0.663;0.732;0.812;0.736;0.854;0.732;0.854;0.805;0.791;0.854;0.564;0.522;0.33;0.825;0.46;0.189;0.805;0.854;0.805;0.564;0.854;0.854;0.564;0.948;0.564	D	0.97204	0.9866	10	0.49607	T	0.09	.	14.0774	0.64897	1.0:0.0:0.0:0.0	.	663;660;663;663;663;663;663;663;663;663;663;634;663;663;663;663;663;663;663;663;663;663;663;663;663	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	F	688;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;504	ENSP00000336982:I688F;ENSP00000382563:I663F;ENSP00000437936:I663F;ENSP00000382552:I663F;ENSP00000382547:I663F;ENSP00000382506:I663F;ENSP00000382530:I663F;ENSP00000382546:I663F;ENSP00000382500:I663F;ENSP00000382549:I663F;ENSP00000266376:I663F;ENSP00000382515:I663F;ENSP00000382510:I663F;ENSP00000341092:I663F;ENSP00000382537:I663F;ENSP00000329877:I663F;ENSP00000382557:I663F;ENSP00000385724:I663F;ENSP00000382512:I663F;ENSP00000382542:I663F;ENSP00000382526:I663F;ENSP00000385896:I663F;ENSP00000382504:I663F	ENSP00000323129:I504F	I	+	1	0	CACNA1C	2561108	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.273000	0.78527	1.977000	0.57605	0.402000	0.26972	ATC		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2690847	A	T	2690847	3	4	153	1	0	0	0	0	1	0	0	0	2540	217	8	5	2149	5	CACNA1C	12	2690847	Missense_Mutation	SNP	A	TCGA-13-2059-01A-01D-1526-09		2690847	131161048	51	8565											
CLSTN3	9746	genome.wustl.edu	37	12	7290580	7290580	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:7290580G>T	ENST00000266546.6	+	8	1690	c.1240G>T	c.(1240-1242)Gtc>Ttc	p.V414F	CLSTN3_ENST00000537408.1_Missense_Mutation_p.V426F	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	414					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCGCTGACTGTCCACGGCTG	0.592																																																0			12											124	110	115					12																	7290580		2203	4300	6503	7181847	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1240G>T	12.37:g.7290580G>T	ENSP00000266546:p.Val414Phe		7181847	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398417	0.83120	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.74421	-0.84;-0.84	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	M	0.67397	2.05	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.73380	0.94;0.98	D	0.86716	0.1939	10	0.87932	D	0	-39.1561	18.3874	0.90471	0.0:0.0:1.0:0.0	.	426;414	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	F	414;426	ENSP00000266546:V414F;ENSP00000440679:V426F	ENSP00000266546:V414F	V	+	1	0	CLSTN3	7181847	1.000000	0.71417	0.978000	0.43139	0.806000	0.45545	6.568000	0.73987	2.573000	0.86826	0.462000	0.41574	GTC		0.592	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		T	7290580	G	T	7290580	3	4	153	1	0	0	0	0	1	0	0	0	3563	1377	48	3	1270	3	CLSTN3	12	7290580	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	4599733	7290580	126561315	52	8566											
GRIN2B	2904	genome.wustl.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	rs552036402		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCTTGGCCGTGCGCAGCAG	0.582													G|||	1	0.000199681	0	0	5008	,	,		20296	0		0.001	False		,,,				2504	0															0			12											155	142	146					12																	13717461		2203	4300	6503	13608728	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met		13608728	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			A	13717461	G	A	13717461	3	1	153	1	0	0	0	0	1	0	0	0	6780	1145	40	1	1747	1	GRIN2B	12	13717461	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	6426881	13717461	120134434	53	8567											
KIF21A	55605	genome.wustl.edu	37	12	39751232	39751232	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:39751232C>G	ENST00000361418.5	-	9	1238	c.1223G>C	c.(1222-1224)aGa>aCa	p.R408T	KIF21A_ENST00000544797.2_Missense_Mutation_p.R408T|KIF21A_ENST00000541463.2_Missense_Mutation_p.R408T|KIF21A_ENST00000361961.3_Missense_Mutation_p.R408T|KIF21A_ENST00000395670.3_Missense_Mutation_p.R408T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	408					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R408I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTCAATTATTCTTTTACCCTA	0.343																																																1	Substitution - Missense(1)	large_intestine(1)	12											90	83	85					12																	39751232		2203	4300	6503	38037499	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1223G>C	12.37:g.39751232C>G	ENSP00000354878:p.Arg408Thr		38037499	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614374	0.87359	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;D	0.82893	-0.55;-0.53;-0.55;-0.47;-0.52;-1.66	4.55	4.55	0.56014	.	0.000000	0.56097	D	0.000026	D	0.90497	0.7023	M	0.71581	2.175	0.58432	D	0.99999	D;D;D;D;B	0.89917	0.99;0.987;0.971;1.0;0.224	P;D;P;D;B	0.83275	0.896;0.942;0.79;0.996;0.268	D	0.91792	0.5444	10	0.72032	D	0.01	.	17.6979	0.88286	0.0:1.0:0.0:0.0	.	408;408;408;408;408	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	T	408;408;408;408;408;408;231	ENSP00000354851:R408T;ENSP00000379029:R408T;ENSP00000445606:R408T;ENSP00000354878:R408T;ENSP00000438075:R408T;ENSP00000449700:R231T	ENSP00000344501:R408T	R	-	2	0	KIF21A	38037499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.574000	0.82434	2.236000	0.73375	0.655000	0.94253	AGA		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		G	39751232	C	G	39751232	3	3	153	1	0	0	0	0	1	0	0	0	8288	913	32	3	3921	3	KIF21A	12	39751232	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	26033771	39751232	94100663	54	8568											
MDM1	56890	genome.wustl.edu	37	12	68717004	68717004	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:68717004C>G	ENST00000303145.7	-	5	736	c.650G>C	c.(649-651)aGc>aCc	p.S217T	MDM1_ENST00000411698.2_Missense_Mutation_p.S172T|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'Flank	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	217					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AACAAACTGGCTTTTATTGTG	0.294																																																0			12											85	86	86					12																	68717004		2203	4300	6503	67003271	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.650G>C	12.37:g.68717004C>G	ENSP00000302537:p.Ser217Thr		67003271	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493702	0.44352	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686	T;T;T	0.24151	1.87;1.87;1.87	4.65	3.74	0.42951	.	0.109202	0.64402	D	0.000006	T	0.31389	0.0795	M	0.70595	2.14	0.80722	D	1	P;P	0.52316	0.952;0.829	P;B	0.47626	0.552;0.393	T	0.06516	-1.0822	9	.	.	.	-7.2739	7.4248	0.27092	0.0:0.7076:0.1421:0.1504	.	172;217	E7EPQ3;Q8TC05	.;MDM1_HUMAN	T	217;172;212	ENSP00000302537:S217T;ENSP00000391006:S172T;ENSP00000446000:S212T	.	S	-	2	0	MDM1	67003271	1.000000	0.71417	0.998000	0.56505	0.636000	0.38137	1.142000	0.31540	1.253000	0.44018	0.491000	0.48974	AGC		0.294	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		G	68717004	C	G	68717004	3	3	153	1	0	0	0	0	1	0	0	0	9412	797	28	3	1534	3	MDM1	12	68717004	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	28965772	68717004	65134891	55	8569											
GPR183	1880	genome.wustl.edu	37	13	99947951	99947951	+	Missense_Mutation	SNP	C	C	T	rs373174545		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr13:99947951C>T	ENST00000376414.4	-	2	532	c.449G>A	c.(448-450)gGc>gAc	p.G150D	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	150					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TATGCACACGCCTTTTGCATG	0.458																																																0			13						C	ASP/GLY,,	1,4405	2.1+/-5.4	0,1,2202	164	128	140		449,,	5.1	0	13		140	0,8600		0,0,4300	no	missense,intron,intron	GPR183,UBAC2	NM_004951.4,NM_001144072.1,NM_177967.3	94,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,,	150/362,,	99947951	1,13005	2203	4300	6503	98745952	SO:0001583	missense	1880			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.449G>A	13.37:g.99947951C>T	ENSP00000365596:p.Gly150Asp		98745952	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	C	7.080	0.569979	0.13560	2.27E-4	0.0	ENSG00000169508	ENST00000376414	T	0.72394	-0.65	5.91	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.368812	0.31821	N	0.007004	T	0.63165	0.2488	L	0.49778	1.585	0.09310	N	1	P	0.36282	0.546	B	0.39531	0.302	T	0.57124	-0.7865	9	.	.	.	.	6.3362	0.21296	0.1389:0.6581:0.1337:0.0693	.	150	P32249	GP183_HUMAN	D	150	ENSP00000365596:G150D	.	G	-	2	0	GPR183	98745952	0.020000	0.18652	0.011000	0.14972	0.362000	0.29581	2.192000	0.42649	1.477000	0.48234	0.655000	0.94253	GGC		0.458	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		T	99947951	C	T	99947951	3	4	153	1	0	0	0	0	1	0	0	0	6678	739	26	2	640	2	GPR183	13	99947951	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09		99947951	15221927	56	8570											
TEP1	7011	genome.wustl.edu	37	14	20841695	20841695	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr14:20841695C>T	ENST00000262715.5	-	46	6692	c.6652G>A	c.(6652-6654)Ggg>Agg	p.G2218R	TEP1_ENST00000556935.1_Missense_Mutation_p.G2110R|TEP1_ENST00000545983.1_Missense_Mutation_p.G556R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2218					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGTGTGGCCCCATCTAGCCCG	0.557																																																0			14											77	69	71					14																	20841695		2203	4300	6503	19911535	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6652G>A	14.37:g.20841695C>T	ENSP00000262715:p.Gly2218Arg		19911535	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916803	0.73098	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.58797	1.9;1.9;0.31	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.055575	0.64402	D	0.000001	T	0.62792	0.2457	N	0.24115	0.695	0.53005	D	0.999964	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.62124	-0.6920	10	0.37606	T	0.19	-22.4393	14.3343	0.66578	0.0:1.0:0.0:0.0	.	556;2110;1561;2218	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	R	2218;2218;2110;556	ENSP00000262715:G2218R;ENSP00000452574:G2110R;ENSP00000438849:G556R	ENSP00000262715:G2218R	G	-	1	0	TEP1	19911535	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.761000	0.55242	2.459000	0.83118	0.655000	0.94253	GGG		0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20841695	C	T	20841695	3	4	153	1	0	0	0	0	1	0	0	0	15759	594	21	2	1271	2	TEP1	14	20841695	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09		20841695	86507845	57	8571											
RNASE6	6039	genome.wustl.edu	37	14	21249961	21249961	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr14:21249961G>C	ENST00000304677.2	+	2	396	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	35					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TCACTGGTTTGAAATTCAGCA	0.468																																																0			14											153	132	139					14																	21249961		2203	4300	6503	20319801	SO:0001583	missense	6039			U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"Ribonucleases, RNase A"	10048	protein-coding gene	gene with protein product	"RNase k6"	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.103G>C	14.37:g.21249961G>C	ENSP00000302046:p.Glu35Gln		20319801		Missense_Mutation	SNP	ENST00000304677.2	37	CCDS9558.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174715	0.38413	.	.	ENSG00000169413	ENST00000304677	T	0.72835	-0.69	5.06	1.21	0.21127	Ribonuclease A, domain (4);	0.496511	0.19119	N	0.122236	T	0.53769	0.1817	L	0.37800	1.135	0.24758	N	0.992947	P	0.38420	0.63	B	0.38921	0.285	T	0.39313	-0.9620	10	0.28530	T	0.3	-5.2815	4.2438	0.10662	0.2741:0.1693:0.5566:0.0	.	35	Q93091	RNAS6_HUMAN	Q	35	ENSP00000302046:E35Q	ENSP00000302046:E35Q	E	+	1	0	RNASE6	20319801	0.038000	0.19896	0.998000	0.56505	0.919000	0.55068	-0.303000	0.08210	0.398000	0.25338	0.650000	0.86243	GAA		0.468	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073750.2			C	21249961	G	C	21249961	3	2	153	1	0	0	0	0	1	0	0	0	13410	1291	45	3	105	3	RNASE6	14	21249961	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	408266	21249961	86099579	58	8572											
SLC24A4	123041	genome.wustl.edu	37	14	92959964	92959964	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr14:92959964G>A	ENST00000532405.1	+	17	2087	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	SLC24A4_ENST00000531433.1_Missense_Mutation_p.D602N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.D585N|SLC24A4_ENST00000393265.2_Missense_Mutation_p.D557N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.D604N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	621					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTGCCGGGAAGACGATTAGCG	0.562																																					NSCLC(10;315 435 10383 28450 38798)											0			14											135	110	119					14																	92959964		2203	4300	6503	92029717	SO:0001583	missense	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1861G>A	14.37:g.92959964G>A	ENSP00000431840:p.Asp621Asn		92029717	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991943	0.74703	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.70282	-0.41;-0.04;-0.02;-0.44;-0.47	5.51	5.51	0.81932	.	0.415507	0.24044	N	0.042069	T	0.51109	0.1655	N	0.02802	-0.49	0.58432	D	0.999998	B;B	0.28512	0.214;0.139	B;B	0.24006	0.05;0.025	T	0.56463	-0.7975	10	0.72032	D	0.01	.	19.4056	0.94646	0.0:0.0:1.0:0.0	.	602;621	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	N	557;602;621;604;585	ENSP00000376948:D557N;ENSP00000433302:D602N;ENSP00000431840:D621N;ENSP00000298877:D604N;ENSP00000337789:D585N	ENSP00000298877:D604N	D	+	1	0	SLC24A4	92029717	1.000000	0.71417	0.997000	0.53966	0.543000	0.35085	5.306000	0.65756	2.582000	0.87167	0.655000	0.94253	GAC		0.562	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		A	92959964	G	A	92959964	3	1	153	1	0	0	0	0	1	0	0	0	14471	942	33	2	1876	2	SLC24A4	14	92959964	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	71710003	92959964	14389576	59	8573											
SERPINA10	51156	genome.wustl.edu	37	14	94756559	94756559	+	Silent	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr14:94756559G>T	ENST00000393096.1	-	2	837	c.372C>A	c.(370-372)atC>atA	p.I124I	SERPINA10_ENST00000554723.1_Silent_p.I164I|SERPINA10_ENST00000261994.4_Silent_p.I124I|SERPINA10_ENST00000554173.1_Silent_p.I124I	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	124					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCCCTCTCTTGATCTGGGTTT	0.597																																																0			14											49	51	50					14																	94756559		2203	4300	6503	93826312	SO:0001819	synonymous_variant	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.372C>A	14.37:g.94756559G>T			93826312	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	CCDS9923.1																																																																																				0.597	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		T	94756559	G	T	94756559	2	4	153	1	0	0	0	0	0	0	0	1	14090	1280	45	3		3	SERPINA10	14	94756559	Silent	SNP	G	TCGA-13-2059-01A-01D-1526-09	1796595	94756559	12592981	60	8574											
DISP2	85455	genome.wustl.edu	37	15	40659878	40659878	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr15:40659878G>A	ENST00000267889.3	+	8	1652	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	522	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGGGTGCTGGGCTCACTGCTG	0.617																																																0			15											101	89	93					15																	40659878		2203	4300	6503	38447170	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1565G>A	15.37:g.40659878G>A	ENSP00000267889:p.Gly522Asp		38447170	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465565	0.63513	.	.	ENSG00000140323	ENST00000267889	D	0.95447	-3.71	5.58	5.58	0.84498	Sterol-sensing domain (1);	0.164825	0.53938	D	0.000055	D	0.96855	0.8973	L	0.54323	1.7	0.58432	D	0.999992	D	0.67145	0.996	D	0.66979	0.948	D	0.96111	0.9077	10	0.39692	T	0.17	-32.6682	19.5634	0.95382	0.0:0.0:1.0:0.0	.	522	A7MBM2	DISP2_HUMAN	D	522	ENSP00000267889:G522D	ENSP00000267889:G522D	G	+	2	0	DISP2	38447170	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.387000	0.73191	2.625000	0.88918	0.561000	0.74099	GGC		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		A	40659878	G	A	40659878	3	1	153	1	0	0	0	0	1	0	0	0	4540	1203	42	2	1595	2	DISP2	15	40659878	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09		40659878	61871514	61	8575											
ZP2	7783	genome.wustl.edu	37	16	21215390	21215390	+	Silent	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr16:21215390G>C	ENST00000574002.1	-	10	1415	c.933C>G	c.(931-933)ggC>ggG	p.G311G	ZP2_ENST00000219593.4_Silent_p.G311G|ZP2_ENST00000574091.1_Silent_p.G311G|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	311					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GCAATTTCATGCCATTTGTTG	0.423																																																0			16											186	160	169					16																	21215390		2200	4300	6500	21122891	SO:0001819	synonymous_variant	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.933C>G	16.37:g.21215390G>C			21122891	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	CCDS10596.1																																																																																				0.423	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			C	21215390	G	C	21215390	2	2	153	1	0	0	0	0	0	0	0	1	18216	1306	46	3		3	ZP2	16	21215390	Silent	SNP	G	TCGA-13-2059-01A-01D-1526-09		21215390	69139363	62	8576											
SRCAP	10847	genome.wustl.edu	37	16	30732653	30732653	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr16:30732653G>C	ENST00000262518.4	+	21	3782	c.3397G>C	c.(3397-3399)Gtg>Ctg	p.V1133L	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Missense_Mutation_p.V1133L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1133	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCCTGACAGTGCCACCAGG	0.632																																																0			16											108	101	103					16																	30732653		2197	4300	6497	30640154	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3397G>C	16.37:g.30732653G>C	ENSP00000262518:p.Val1133Leu		30640154	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083222	0.36758	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91124	-2.79;-2.7	5.26	5.26	0.73747	.	.	.	.	.	D	0.85089	0.5617	N	0.14661	0.345	0.80722	D	1	P;P	0.46859	0.885;0.817	P;B	0.44946	0.465;0.275	D	0.85904	0.1436	9	0.41790	T	0.15	-8.4273	15.8888	0.79276	0.0:0.0:1.0:0.0	.	1133;1133	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	1133	ENSP00000262518:V1133L;ENSP00000378499:V1133L	ENSP00000262518:V1133L	V	+	1	0	SRCAP	30640154	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.203000	0.51075	2.731000	0.93534	0.557000	0.71058	GTG		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		C	30732653	G	C	30732653	3	2	153	1	0	0	0	0	1	0	0	0	15137	1029	36	3	3471	3	SRCAP	16	30732653	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	9517263	30732653	59622100	63	8577											
TK2	7084	genome.wustl.edu	37	16	66575787	66575787	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr16:66575787C>T	ENST00000451102.2	-	3	576	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	TK2_ENST00000545043.2_Intron|TK2_ENST00000544898.1_Missense_Mutation_p.V27I|TK2_ENST00000525974.1_5'UTR|TK2_ENST00000527284.1_Missense_Mutation_p.V45I|TK2_ENST00000527800.1_5'UTR|TK2_ENST00000299697.7_Missense_Mutation_p.V118I|TK2_ENST00000564917.1_Missense_Mutation_p.V76I|TK2_ENST00000563369.2_5'UTR|TK2_ENST00000417693.3_Missense_Mutation_p.V76I			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	76					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TGTACCTCGACGTCTGTCGCG	0.463																																																0			16											119	94	103					16																	66575787		2201	4300	6501	65133288	SO:0001583	missense	7084				CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.226G>A	16.37:g.66575787C>T	ENSP00000414334:p.Val76Ile		65133288	B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Missense_Mutation	SNP	ENST00000451102.2	37	CCDS10805.2	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299754	0.05532	.	.	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000451102;ENST00000527284;ENST00000544898	D;D;D;D;D	0.92911	-3.13;-3.06;-3.13;-3.13;-3.13	6.16	-2.28	0.06826	.	0.357658	0.30809	N	0.008838	T	0.77082	0.4078	N	0.13168	0.305	0.09310	N	1	B;B;B;B;B	0.17852	0.004;0.024;0.012;0.007;0.009	B;B;B;B;B	0.15484	0.003;0.007;0.002;0.007;0.013	T	0.65639	-0.6119	10	0.02654	T	1	-6.1007	7.2819	0.26316	0.0:0.5487:0.1486:0.3028	.	76;27;40;118;45	O00142;F5GYK4;A4IF54;E5KNQ5;O00142-2	KITM_HUMAN;.;.;.;.	I	118;76;76;45;27	ENSP00000299697:V118I;ENSP00000407469:V76I;ENSP00000414334:V76I;ENSP00000435312:V45I;ENSP00000440898:V27I	ENSP00000299697:V118I	V	-	1	0	TK2	65133288	0.066000	0.20996	0.000000	0.03702	0.003000	0.03518	0.244000	0.18124	-0.375000	0.07955	0.650000	0.86243	GTC		0.463	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4			T	66575787	C	T	66575787	3	4	153	1	0	0	0	0	1	0	0	0	15933	536	19	1	603	1	TK2	16	66575787	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	35843134	66575787	23778966	64	8578											
FOXL1	2300	genome.wustl.edu	37	16	86612832	86612832	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr16:86612832C>G	ENST00000320241.3	+	1	718	c.503C>G	c.(502-504)gCg>gGg	p.A168G		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	168					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						AGCGCGGAGGCGCAGCCGGAG	0.796																																					NSCLC(163;308 2020 10889 11476 18208)											0			16											2	3	3					16																	86612832		1264	2759	4023	85170333	SO:0001583	missense	2300			AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"Forkhead boxes"	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.503C>G	16.37:g.86612832C>G	ENSP00000326272:p.Ala168Gly		85170333	Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.933860	0.00488	.	.	ENSG00000176678	ENST00000320241	D	0.94576	-3.46	4.02	-0.634	0.11516	.	12.630600	0.02160	U	0.058714	D	0.87653	0.6231	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77091	-0.2716	10	0.15066	T	0.55	.	5.0227	0.14369	0.0:0.4654:0.2828:0.2518	.	168	Q12952	FOXL1_HUMAN	G	168	ENSP00000326272:A168G	ENSP00000326272:A168G	A	+	2	0	FOXL1	85170333	0.001000	0.12720	0.006000	0.13384	0.001000	0.01503	-2.060000	0.01392	0.035000	0.15519	-1.471000	0.01009	GCG		0.796	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		G	86612832	C	G	86612832	3	3	153	1	0	0	0	0	1	0	0	0	6016	768	27	3	505	3	FOXL1	16	86612832	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	20037045	86612832	3741921	65	8579											
SMG6	23293	genome.wustl.edu	37	17	2139833	2139833	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:2139833T>G	ENST00000263073.6	-	10	2872	c.2822A>C	c.(2821-2823)cAg>cCg	p.Q941P	AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Missense_Mutation_p.Q33P|SMG6_ENST00000544865.1_Missense_Mutation_p.Q910P|SMG6_ENST00000354901.4_Missense_Mutation_p.Q33P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	941					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTCATAAGCTGCAGCATGCG	0.463																																					Melanoma(59;28 1088 11621 25887 46638 50814)											0			17											169	146	154					17																	2139833		2203	4300	6503	2086583	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2822A>C	17.37:g.2139833T>G	ENSP00000263073:p.Gln941Pro		2086583	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636562	0.87760	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.36878	1.23;1.23;1.23	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67126	-0.5749	10	0.87932	D	0	-8.2624	16.4323	0.83853	0.0:0.0:0.0:1.0	.	941	Q86US8	EST1A_HUMAN	P	941;910;33	ENSP00000263073:Q941P;ENSP00000443920:Q910P;ENSP00000440283:Q33P	ENSP00000263073:Q941P	Q	-	2	0	SMG6	2086583	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.281000	0.76405	0.528000	0.53228	CAG		0.463	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			G	2139833	T	G	2139833	3	3	153	1	0	0	0	0	1	0	0	0	14800	1580	55	5	1477	5	SMG6	17	2139833	Missense_Mutation	SNP	T	TCGA-13-2059-01A-01D-1526-09		2139833	79055377	66	8580											
TP53	7157	genome.wustl.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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"	197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	17	GRCh37	CM067054	TP53	M							47	47	47					17																	7578395		2203	4300	6503	7519120	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.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr		7519120	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	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578395	G	A	7578395	3	1	153	1	0	0	0	0	1	0	0	0	16381	1348	47	2	763	2	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	5438562	7578395	73616815	67	8581											
SLFN5	162394	genome.wustl.edu	37	17	33586382	33586382	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:33586382G>C	ENST00000299977.4	+	2	821	c.673G>C	c.(673-675)Gga>Cga	p.G225R	SLFN5_ENST00000542451.1_Missense_Mutation_p.G225R|SLFN5_ENST00000592325.1_Missense_Mutation_p.G225R	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	225					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TACTGAAGGAGGATATGTATT	0.403																																																0			17											155	151	152					17																	33586382		2203	4300	6503	30610495	SO:0001583	missense	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.673G>C	17.37:g.33586382G>C	ENSP00000299977:p.Gly225Arg		30610495	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425891	0.62733	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.72167	-0.63;-0.63	3.68	3.68	0.42216	.	0.245466	0.21414	N	0.074921	D	0.86497	0.5947	M	0.94101	3.495	0.29989	N	0.817018	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.975;0.975;1.0	D	0.83633	0.0146	10	0.87932	D	0	.	11.0997	0.48166	0.0:0.0:1.0:0.0	.	225;225;225	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	R	225	ENSP00000299977:G225R;ENSP00000440537:G225R	ENSP00000299977:G225R	G	+	1	0	SLFN5	30610495	1.000000	0.71417	0.250000	0.24296	0.980000	0.70556	6.006000	0.70724	2.034000	0.60081	0.655000	0.94253	GGA		0.403	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		C	33586382	G	C	33586382	3	2	153	1	0	0	0	0	1	0	0	0	14740	1001	35	3	675	3	SLFN5	17	33586382	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	26007987	33586382	47608828	68	8582											
ERBB2	2064	genome.wustl.edu	37	17	37881375	37881375	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:37881375C>G	ENST00000269571.5	+	21	2726	c.2567C>G	c.(2566-2568)cCc>cGc	p.P856R	ERBB2_ENST00000445658.2_Missense_Mutation_p.P580R|ERBB2_ENST00000584450.1_Missense_Mutation_p.P856R|ERBB2_ENST00000584601.1_Missense_Mutation_p.P826R|ERBB2_ENST00000540147.1_Missense_Mutation_p.P826R|ERBB2_ENST00000541774.1_Missense_Mutation_p.P841R|ERBB2_ENST00000406381.2_Missense_Mutation_p.P826R|MIR4728_ENST00000580969.1_RNA			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	856	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GTCAAGAGTCCCAACCATGTC	0.567		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0			17											84	78	80					17																	37881375		2203	4300	6503	35134901	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2567C>G	17.37:g.37881375C>G	ENSP00000269571:p.Pro856Arg		35134901	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972574	0.53614	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.63165	0.2488	N	0.13272	0.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.70063	-0.4975	9	0.87932	D	0	.	18.2846	0.90110	0.0:1.0:0.0:0.0	.	580;841;856	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	R	826;841;580;856;826	ENSP00000385185:P826R;ENSP00000446466:P841R;ENSP00000404047:P580R;ENSP00000269571:P856R;ENSP00000443562:P826R	ENSP00000269571:P856R	P	+	2	0	ERBB2	35134901	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.708000	0.61859	2.651000	0.90000	0.563000	0.77884	CCC		0.567	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			G	37881375	C	G	37881375	3	3	153	1	0	0	0	0	1	0	0	0	5206	623	22	3	2649	3	ERBB2	17	37881375	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	4294993	37881375	43313835	69	8583											
RNF43	54894	genome.wustl.edu	37	17	56440919	56440919	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:56440919C>G	ENST00000584437.1	-	3	2373	c.418G>C	c.(418-420)Gac>Cac	p.D140H	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.D13H|RNF43_ENST00000583753.1_Missense_Mutation_p.D99H|RNF43_ENST00000407977.2_Missense_Mutation_p.D140H|RNF43_ENST00000500597.2_Missense_Mutation_p.D99H|RNF43_ENST00000577625.1_Missense_Mutation_p.D13H|RNF43_ENST00000577716.1_Missense_Mutation_p.D140H			Q68DV7	RNF43_HUMAN	ring finger protein 43	140					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGTGATGTCAAAGAGGACA	0.597																																																0			17											113	107	109					17																	56440919		2203	4300	6503	53795918	SO:0001583	missense	54894				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.418G>C	17.37:g.56440919C>G	ENSP00000463069:p.Asp140His		53795918	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129753	0.94473	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.21031	2.03;2.64	5.4	5.4	0.78164	.	0.110897	0.64402	D	0.000012	T	0.38665	0.1049	L	0.36672	1.1	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.06427	-1.0827	10	0.48119	T	0.1	-14.304	18.1499	0.89671	0.0:1.0:0.0:0.0	.	99;140;140	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	H	140;99	ENSP00000385328:D140H;ENSP00000441969:D99H	ENSP00000385328:D140H	D	-	1	0	RNF43	53795918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.948000	0.75965	2.531000	0.85337	0.591000	0.81541	GAC		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		G	56440919	C	G	56440919	3	3	153	1	0	0	0	0	1	0	0	0	13498	826	29	3	1961	3	RNF43	17	56440919	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	18559544	56440919	24754291	70	8584											
GNAL	2774	genome.wustl.edu	37	18	11753899	11753899	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr18:11753899C>T	ENST00000423027.3	+	4	669	c.348C>T	c.(346-348)gaC>gaT	p.D116D	GNAL_ENST00000269162.5_Silent_p.D116D|GNAL_ENST00000535121.1_Silent_p.D116D|GNAL_ENST00000334049.6_Silent_p.D193D|GNAL_ENST00000590972.1_3'UTR			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	116					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TTCGATCAGACTACATCAAGA	0.348																																																0			18											98	96	97					18																	11753899		2203	4300	6503	11743899	SO:0001819	synonymous_variant	2774			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.348C>T	18.37:g.11753899C>T			11743899	B7ZA26|Q86XU3	Silent	SNP	ENST00000423027.3	37	CCDS11852.1																																																																																				0.348	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		T	11753899	C	T	11753899	2	4	153	1	0	0	0	0	0	0	0	1	6507	564	20	2		2	GNAL	18	11753899	Silent	SNP	C	TCGA-13-2059-01A-01D-1526-09		11753899	66323349	71	8585											
NLRP13	126204	genome.wustl.edu	37	19	56423113	56423113	+	Silent	SNP	A	A	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr19:56423113A>G	ENST00000342929.3	-	5	2069	c.2070T>C	c.(2068-2070)tcT>tcC	p.S690S	NLRP13_ENST00000588751.1_Silent_p.S690S	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	690							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GACTGCTAACAGAAAGCCTTA	0.388																																																0			19											90	98	95					19																	56423113		2203	4300	6503	61114925	SO:0001819	synonymous_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2070T>C	19.37:g.56423113A>G			61114925	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																				0.388	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		G	56423113	A	G	56423113	2	3	153	1	0	0	0	0	0	0	0	1	10475	175	7	4		4	NLRP13	19	56423113	Silent	SNP	A	TCGA-13-2059-01A-01D-1526-09		56423113	2705870	72	8586											
USP29	57663	genome.wustl.edu	37	19	57640847	57640847	+	Silent	SNP	A	A	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr19:57640847A>G	ENST00000254181.4	+	4	1258	c.804A>G	c.(802-804)agA>agG	p.R268R	USP29_ENST00000598197.1_Silent_p.R268R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	268					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGACCCAAGATGCAACAAAG	0.473																																																0			19											86	85	85					19																	57640847		2203	4300	6503	62332659	SO:0001819	synonymous_variant	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.804A>G	19.37:g.57640847A>G			62332659		Silent	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																				0.473	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			G	57640847	A	G	57640847	2	3	153	1	0	0	0	0	0	0	0	1	17059	330	12	4		4	USP29	19	57640847	Silent	SNP	A	TCGA-13-2059-01A-01D-1526-09	1217734	57640847	1488136	73	8587											
NOP56	10528	genome.wustl.edu	37	20	2638892	2638892	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr20:2638892C>G	ENST00000329276.5	+	12	2253	c.1737C>G	c.(1735-1737)agC>agG	p.S579R	SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	579	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TTGGCAAGAGCAGCTCCAAGA	0.517																																																0			20											8	10	9					20																	2638892		2143	4252	6395	2586892	SO:0001583	missense	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1737C>G	20.37:g.2638892C>G	ENSP00000370589:p.Ser579Arg		2586892	Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881591	0.17467	.	.	ENSG00000101361	ENST00000329276	T	0.57907	0.37	5.27	1.25	0.21368	.	0.852967	0.10838	N	0.628614	T	0.36853	0.0982	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.32481	-0.9905	10	0.87932	D	0	-0.321	7.6775	0.28494	0.0:0.6788:0.0:0.3212	.	579	O00567	NOP56_HUMAN	R	579	ENSP00000370589:S579R	ENSP00000370589:S579R	S	+	3	2	NOP56	2586892	0.620000	0.27068	0.004000	0.12327	0.380000	0.30137	0.576000	0.23744	0.191000	0.20236	0.644000	0.83932	AGC		0.517	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		G	2638892	C	G	2638892	3	3	153	1	0	0	0	0	1	0	0	0	10539	709	25	3	1783	3	NOP56	20	2638892	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09		2638892	60386628	74	8588											
C20orf166	128826	genome.wustl.edu	37	20	61162305	61162305	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr20:61162305C>G	ENST00000370527.3	+	3	897	c.118C>G	c.(118-120)Caa>Gaa	p.Q40E	C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron|MIR133A2_ENST00000347538.2_RNA	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166											endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			TGGTCAGCTCCAAGTAAGTGA	0.697																																																0			20											9	12	11					20																	61162305		1261	2242	3503	60572750	SO:0001583	missense	128826			AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"MIR133A2 host gene"						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.118C>G	20.37:g.61162305C>G	ENSP00000359558:p.Gln40Glu		60572750		Missense_Mutation	SNP	ENST00000370527.3	37	CCDS46627.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.419980	0.25552	.	.	ENSG00000174407	ENST00000370527	T	0.37584	1.19	3.47	2.38	0.29361	.	.	.	.	.	T	0.32763	0.0840	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	P	0.62491	0.903	T	0.29792	-1.0000	9	0.87932	D	0	.	9.4243	0.38570	0.2129:0.7871:0.0:0.0	.	40	Q9H1L0	CT166_HUMAN	E	40	ENSP00000359558:Q40E	ENSP00000359558:Q40E	Q	+	1	0	C20orf166	60572750	0.993000	0.37304	0.109000	0.21407	0.288000	0.27193	2.179000	0.42528	1.874000	0.54306	0.313000	0.20887	CAA		0.697	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		G	61162305	C	G	61162305	3	3	153	1	0	0	0	0	1	0	0	0	2095	595	21	3	124	3	C20orf166	20	61162305	Missense_Mutation	SNP	C	TCGA-13-2059-01A-01D-1526-09	58523413	61162305	1863215	75	8589											
ADAMTS1	9510	genome.wustl.edu	37	21	28216738	28216738	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr21:28216738G>A	ENST00000284984.3	-	1	990	c.536C>T	c.(535-537)gCa>gTa	p.A179V		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	179					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTGTAGTGGTGCCGGCGGCTT	0.736											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			21											6	6	6					21																	28216738		2001	4028	6029	27138609	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.536C>T	21.37:g.28216738G>A	ENSP00000284984:p.Ala179Val	800	27138609	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	8.724	0.914981	0.17907	.	.	ENSG00000154734	ENST00000284984	T	0.61980	0.06	4.07	-3.21	0.05140	.	.	.	.	.	T	0.35941	0.0949	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.17722	0.019	T	0.23226	-1.0194	9	0.25106	T	0.35	.	8.8523	0.35208	0.0769:0.0:0.3406:0.5825	.	179	Q9UHI8	ATS1_HUMAN	V	179	ENSP00000284984:A179V	ENSP00000284984:A179V	A	-	2	0	ADAMTS1	27138609	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.720000	0.04969	-0.249000	0.09569	0.455000	0.32223	GCA		0.736	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			A	28216738	G	A	28216738	3	1	153	1	0	0	0	0	1	0	0	0	255	1319	46	2	2403	2	ADAMTS1	21	28216738	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09		28216738	19913157	76	8590											
RNF160	26046	genome.wustl.edu	37	21	30303480	30303480	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr21:30303480G>C	ENST00000361371.5	-	29	5314	c.5235C>G	c.(5233-5235)tgC>tgG	p.C1745W	LTN1_ENST00000389194.2_Missense_Mutation_p.C1791W			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1745					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GACTTACCAAGCAGGCTGAAT	0.353																																																0			21											98	99	99					21																	30303480		2203	4300	6503	29225351	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5235C>G	21.37:g.30303480G>C	ENSP00000354977:p.Cys1745Trp		29225351	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	16.20	3.055085	0.55325	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.67345	-0.26;-0.26	5.31	2.28	0.28536	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87228	0.2258	10	0.87932	D	0	.	8.8186	0.35011	0.4128:0.0:0.5872:0.0	.	1745	O94822	LTN1_HUMAN	W	1791;1745	ENSP00000373846:C1791W;ENSP00000354977:C1745W	ENSP00000354977:C1745W	C	-	3	2	LTN1	29225351	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.484000	0.35508	0.327000	0.23409	0.591000	0.81541	TGC		0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		C	30303480	G	C	30303480	3	2	153	1	0	0	0	0	1	0	0	0	13458	963	34	3	73	3	RNF160	21	30303480	Missense_Mutation	SNP	G	TCGA-13-2059-01A-01D-1526-09	2086742	30303480	17826415	77	8591											
IL1RAPL1	11141	genome.wustl.edu	37	X	29972793	29972793	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chrX:29972793T>A	ENST00000378993.1	+	10	2029	c.1356T>A	c.(1354-1356)gaT>gaA	p.D452E	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.D452E	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	452	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAGATAGAGATTTAATCCCAA	0.348																																																0			X											75	70	72					X																	29972793		2202	4300	6502	29882714	SO:0001583	missense	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1356T>A	X.37:g.29972793T>A	ENSP00000368278:p.Asp452Glu		29882714	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336563	0.81801	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.19105	2.17;2.17	5.25	5.25	0.73442	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.91717	3.235	0.51233	D	0.999913	D	0.71674	0.998	D	0.87578	0.998	T	0.66260	-0.5968	9	.	.	.	.	14.4604	0.67445	0.0:0.0:0.0:1.0	.	452	Q9NZN1	IRPL1_HUMAN	E	452	ENSP00000368278:D452E;ENSP00000305200:D452E	.	D	+	3	2	IL1RAPL1	29882714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.761000	0.55242	1.862000	0.54008	0.481000	0.45027	GAT		0.348	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		A	29972793	T	A	29972793	3	1	153	1	0	0	0	0	1	0	0	0	7661	1490	52	5	1390	5	IL1RAPL1	23	29972793	Missense_Mutation	SNP	T	TCGA-13-2059-01A-01D-1526-09		29972793	125297767	78	8592											
SLC16A2	6567	genome.wustl.edu	37	X	73745664	73745664	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chrX:73745664T>A	ENST00000587091.1	+	4	1283	c.1106T>A	c.(1105-1107)cTt>cAt	p.L369H	SLC16A2_ENST00000276033.5_Missense_Mutation_p.L443H	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	369					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	ACCTCAGGCCTTGGGCGTCTT	0.507																																																0			X											187	157	167					X																	73745664		2203	4300	6503	73662389	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1106T>A	X.37:g.73745664T>A	ENSP00000465734:p.Leu369His		73662389	Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867353	0.72065	.	.	ENSG00000147100	ENST00000276033	T	0.59224	0.28	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.240945	0.36665	N	0.002480	T	0.67850	0.2937	L	0.48642	1.525	0.43462	D	0.995662	D	0.67145	0.996	D	0.64506	0.926	T	0.71411	-0.4601	10	0.87932	D	0	.	13.8619	0.63566	0.0:0.0:0.0:1.0	.	369	P36021	MOT8_HUMAN	H	443	ENSP00000276033:L443H	ENSP00000276033:L443H	L	+	2	0	SLC16A2	73662389	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.695000	0.84257	1.647000	0.50633	0.483000	0.47432	CTT		0.507	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			A	73745664	T	A	73745664	3	1	153	1	0	0	0	0	1	0	0	0	14411	1609	56	5	1342	5	SLC16A2	23	73745664	Missense_Mutation	SNP	T	TCGA-13-2059-01A-01D-1526-09	43772871	73745664	81524896	79	8593											
MACF1	23499	broad.mit.edu	37	1	39799405	39799405	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr1:39799405G>A	ENST00000372915.3	+	36	7247	c.7160G>A	c.(7159-7161)tGc>tAc	p.C2387Y	MACF1_ENST00000567887.1_Missense_Mutation_p.C2419Y|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.C2382Y|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.C822Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2387					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.C822Y(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGACACTGTGCTCTGTAAAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											78	76	77					1																	39799405		2203	4300	6503	39571992	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7160G>A	1.37:g.39799405G>A	ENSP00000362006:p.Cys2387Tyr		39571992	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	0.246	-1.009926	0.02095	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.72835	-0.69;-0.69	5.6	3.73	0.42828	.	0.486110	0.21082	N	0.080468	T	0.52370	0.1730	N	0.21448	0.665	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52147	-0.8614	10	0.62326	D	0.03	.	5.3304	0.15930	0.2601:0.1518:0.5881:0.0	.	2387	Q9UPN3	MACF1_HUMAN	Y	2387;822	ENSP00000362006:C2387Y;ENSP00000289893:C822Y	ENSP00000289893:C822Y	C	+	2	0	MACF1	39571992	1.000000	0.71417	0.990000	0.47175	0.278000	0.26855	1.708000	0.37899	1.367000	0.46095	-0.137000	0.14449	TGC		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39799405	G	A	39799405	3	1	154	1	0	0	0	0	1	0	0	0	9144	1319	46	2	7236	2	MACF1	1	39799405	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08		39799405	209451216	1	8594											
PODN	127435	broad.mit.edu	37	1	53542969	53542969	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr1:53542969G>A	ENST00000312553.5	+	6	840	c.833G>A	c.(832-834)cGc>cAc	p.R278H	PODN_ENST00000395871.2_Intron|PODN_ENST00000371500.3_Missense_Mutation_p.R259H|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	230					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.R278L(1)|p.R278H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACTTCCTGCGCCACGTGCCC	0.637																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											104	104	104					1																	53542969		2203	4300	6503	53315557	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.833G>A	1.37:g.53542969G>A	ENSP00000308315:p.Arg278His		53315557	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948596	0.73787	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.18657	3.59;2.2	4.85	3.85	0.44370	.	0.210009	0.40640	N	0.001058	T	0.30510	0.0767	L	0.54323	1.7	0.80722	D	1	D;D	0.69078	0.997;0.993	P;P	0.62184	0.899;0.852	T	0.04440	-1.0951	10	0.46703	T	0.11	.	3.8959	0.09139	0.3179:0.0:0.6821:0.0	.	259;278	Q7Z5L7-2;Q7Z5L7-3	.;.	H	259;278	ENSP00000360555:R259H;ENSP00000308315:R278H	ENSP00000308315:R278H	R	+	2	0	PODN	53315557	0.997000	0.39634	1.000000	0.80357	0.974000	0.67602	2.854000	0.48325	2.505000	0.84491	0.655000	0.94253	CGC		0.637	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		A	53542969	G	A	53542969	3	1	154	1	0	0	0	0	1	0	0	0	12178	1087	38	1	855	1	PODN	1	53542969	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08	13743564	53542969	195707652	2	8595											
FAM179A	165186	broad.mit.edu	37	2	29221081	29221081	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr2:29221081C>T	ENST00000379558.4	+	3	452	c.101C>T	c.(100-102)cCg>cTg	p.P34L	FAM179A_ENST00000403861.2_Missense_Mutation_p.P34L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	34								p.P34L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGGGTGCTCCCGCCTGGAAGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	2											20	23	22					2																	29221081		1962	4144	6106	29074585	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.101C>T	2.37:g.29221081C>T	ENSP00000368876:p.Pro34Leu		29074585	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077164	0.36662	.	.	ENSG00000189350	ENST00000420297;ENST00000379558;ENST00000403861	T;T;T	0.44881	0.91;3.23;3.01	4.44	0.155	0.14906	.	.	.	.	.	T	0.23766	0.0575	N	0.24115	0.695	0.09310	N	1	B;B	0.15719	0.01;0.014	B;B	0.09377	0.004;0.003	T	0.17806	-1.0357	9	0.35671	T	0.21	.	3.874	0.09048	0.3245:0.4776:0.0:0.198	.	34;34	F8W8E4;Q6ZUX3	.;F179A_HUMAN	L	34	ENSP00000402415:P34L;ENSP00000368876:P34L;ENSP00000384699:P34L	ENSP00000368876:P34L	P	+	2	0	FAM179A	29074585	0.001000	0.12720	0.000000	0.03702	0.805000	0.45488	-0.244000	0.08903	0.094000	0.17404	0.561000	0.74099	CCG		0.647	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		T	29221081	C	T	29221081	3	4	154	1	0	0	0	0	1	0	0	0	5505	652	23	1	107	1	FAM179A	2	29221081	Missense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08		29221081	213978292	3	8596											
NRXN1	9378	broad.mit.edu	37	2	50765667	50765667	+	Missense_Mutation	SNP	C	C	T	rs200251545		TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr2:50765667C>T	ENST00000406316.2	-	10	3343	c.1867G>A	c.(1867-1869)Gct>Act	p.A623T	NRXN1_ENST00000406859.3_Missense_Mutation_p.A623T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.A623T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A615T|NRXN1_ENST00000404971.1_Missense_Mutation_p.A663T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A615T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	623	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A623T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACAAGGCCAGCTTTATTTTCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											104	114	111					2																	50765667		2198	4297	6495	50619171	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1867G>A	2.37:g.50765667C>T	ENSP00000384311:p.Ala623Thr		50619171	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710078	0.48517	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.13	5.13	0.70059	.	0.247932	0.39407	N	0.001368	T	0.71896	0.3394	L	0.35723	1.085	0.34278	D	0.681757	B;B;B	0.32467	0.029;0.012;0.372	B;B;B	0.36766	0.036;0.012;0.232	T	0.72940	-0.4139	10	0.16420	T	0.52	.	18.7706	0.91890	0.0:1.0:0.0:0.0	.	663;623;615	Q9ULB1-3;F8WB18;A7E294	.;.;.	T	663;623;615;623;664;615;623	ENSP00000385142:A663T;ENSP00000384311:A623T;ENSP00000434015:A615T;ENSP00000385017:A623T;ENSP00000385434:A615T;ENSP00000385681:A623T	ENSP00000385017:A623T	A	-	1	0	NRXN1	50619171	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.930000	0.48924	2.660000	0.90430	0.557000	0.71058	GCT		0.522	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50765667	C	T	50765667	3	4	154	1	0	0	0	0	1	0	0	0	10665	797	28	2	2975	2	NRXN1	2	50765667	Missense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08	21544586	50765667	192433706	4	8597											
UXS1	80146	broad.mit.edu	37	2	106761805	106761805	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr2:106761805C>G	ENST00000409501.3	-	6	355	c.298G>C	c.(298-300)Gtg>Ctg	p.V100L	UXS1_ENST00000540130.1_Missense_Mutation_p.V43L|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000283148.7_Missense_Mutation_p.V105L|UXS1_ENST00000428048.2_Intron			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	100					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.V105L(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGGGAGCCCACGAACCCTGCG	0.552																																																2	Substitution - Missense(2)	ovary(2)	2											82	81	81					2																	106761805		2100	4229	6329	106128237	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.298G>C	2.37:g.106761805C>G	ENSP00000387019:p.Val100Leu		106128237	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219112	0.79464	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	N	0.03891	-0.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89228	0.3575	10	0.13470	T	0.59	-9.4627	20.1381	0.98040	0.0:1.0:0.0:0.0	.	105;100	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	L	105;43;100;43	ENSP00000283148:V105L;ENSP00000438265:V43L;ENSP00000387019:V100L;ENSP00000399316:V43L	ENSP00000283148:V105L	V	-	1	0	UXS1	106128237	1.000000	0.71417	0.995000	0.50966	0.802000	0.45316	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	GTG		0.552	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		G	106761805	C	G	106761805	3	3	154	1	0	0	0	0	1	0	0	0	17109	536	19	3	1004	3	UXS1	2	106761805	Missense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08	55996138	106761805	136437568	5	8598											
CNTNAP5	129684	broad.mit.edu	37	2	125671768	125671768	+	Missense_Mutation	SNP	A	A	C			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr2:125671768A>C	ENST00000431078.1	+	24	4188	c.3824A>C	c.(3823-3825)aAg>aCg	p.K1275T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1275					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.K1275T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCCAGATGAAGGAGAAGGAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											148	143	145					2																	125671768		1942	4155	6097	125388238	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3824A>C	2.37:g.125671768A>C	ENSP00000399013:p.Lys1275Thr		125388238	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.388610	0.42308	.	.	ENSG00000155052	ENST00000431078	D	0.92858	-3.12	5.86	5.86	0.93980	.	0.000000	0.52532	D	0.000080	D	0.95793	0.8631	M	0.78456	2.415	0.53688	D	0.999976	D	0.76494	0.999	D	0.80764	0.994	D	0.95807	0.8838	10	0.54805	T	0.06	.	15.4241	0.75038	1.0:0.0:0.0:0.0	.	1275	Q8WYK1	CNTP5_HUMAN	T	1275	ENSP00000399013:K1275T	ENSP00000399013:K1275T	K	+	2	0	CNTNAP5	125388238	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	6.462000	0.73526	2.237000	0.73441	0.519000	0.50382	AAG		0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			C	125671768	A	C	125671768	3	2	154	1	0	0	0	0	1	0	0	0	3650	72	3	5	3918	5	CNTNAP5	2	125671768	Missense_Mutation	SNP	A	TCGA-13-2060-01A-01W-0799-08	18909963	125671768	117527605	6	8599											
DVL3	1857	broad.mit.edu	37	3	183882623	183882623	+	Missense_Mutation	SNP	G	G	A	rs372800702		TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr3:183882623G>A	ENST00000313143.3	+	5	751	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.R168Q|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	168					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.R168Q(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GAACGGCGGCGAGAACCAGGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	3						G	GLN/ARG	0,4406		0,0,2203	75	79	78		503	5.2	1	3		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	DVL3	NM_004423.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	168/717	183882623	1,13005	2203	4300	6503	185365317	SO:0001583	missense	1857			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.503G>A	3.37:g.183882623G>A	ENSP00000316054:p.Arg168Gln		185365317	B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850049	0.71603	0.0	1.16E-4	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765;ENST00000423300	T;T;T	0.06528	3.74;3.74;3.29	5.18	5.18	0.71444	Dishevelled protein domain (1);	0.203652	0.41823	D	0.000808	T	0.20292	0.0488	L	0.47016	1.485	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72982	0.979;0.979	T	0.00233	-1.1894	10	0.46703	T	0.11	-15.435	19.0742	0.93154	0.0:0.0:1.0:0.0	.	168;168	B4E3E5;Q92997	.;DVL3_HUMAN	Q	168;168;168;66	ENSP00000316054:R168Q;ENSP00000405885:R168Q;ENSP00000393849:R66Q	ENSP00000316054:R168Q	R	+	2	0	DVL3	185365317	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.760000	0.85248	2.582000	0.87167	0.655000	0.94253	CGA		0.572	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		A	183882623	G	A	183882623	3	1	154	1	0	0	0	0	1	0	0	0	4837	1058	37	1	521	1	DVL3	3	183882623	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08		183882623	14139807	7	8600											
CPN2	1370	broad.mit.edu	37	3	194062382	194062382	+	Silent	SNP	C	C	G			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr3:194062382C>G	ENST00000323830.3	-	2	1139	c.1050G>C	c.(1048-1050)acG>acC	p.T350T	CPN2_ENST00000429275.1_Silent_p.T350T	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	350					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.T350T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGTGCAGCGCCGTAAGGTTGT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	3											67	70	69					3																	194062382		2203	4300	6503	195544077	SO:0001819	synonymous_variant	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1050G>C	3.37:g.194062382C>G			195544077	B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	CCDS33920.1																																																																																				0.572	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		G	194062382	C	G	194062382	2	3	154	1	0	0	0	0	0	0	0	1	3810	639	23	3		3	CPN2	3	194062382	Silent	SNP	C	TCGA-13-2060-01A-01W-0799-08	10179759	194062382	3960048	8	8601											
MUC7	4589	broad.mit.edu	37	4	71346646	71346646	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr4:71346646C>G	ENST00000304887.5	+	3	375	c.185C>G	c.(184-186)tCc>tGc	p.S62C	MUC7_ENST00000413702.1_Missense_Mutation_p.S62C|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S62C	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	62					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S62C(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ATTAGAAAGTCCTATAAATGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	4											173	169	170					4																	71346646		2203	4300	6503	71381235	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.185C>G	4.37:g.71346646C>G	ENSP00000302021:p.Ser62Cys		71381235	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	8.252	0.809228	0.16537	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.55234	0.54;0.53;0.54;0.54	2.79	-1.95	0.07548	.	.	.	.	.	T	0.30166	0.0756	N	0.08118	0	0.09310	N	1	P	0.45827	0.867	B	0.43950	0.437	T	0.19877	-1.0292	9	0.66056	D	0.02	2.7449	4.7492	0.13052	0.5453:0.3248:0.0:0.1299	.	62	Q8TAX7	MUC7_HUMAN	C	62	ENSP00000407422:S62C;ENSP00000427594:S62C;ENSP00000400585:S62C;ENSP00000302021:S62C	ENSP00000302021:S62C	S	+	2	0	MUC7	71381235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.436000	0.06922	-0.501000	0.06605	0.655000	0.94253	TCC		0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		G	71346646	C	G	71346646	3	3	154	1	0	0	0	0	1	0	0	0	9981	855	30	3	191	3	MUC7	4	71346646	Missense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08		71346646	119807630	9	8602											
WDR70	55100	broad.mit.edu	37	5	37480010	37480010	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr5:37480010A>T	ENST00000265107.4	+	8	917	c.761A>T	c.(760-762)aAg>aTg	p.K254M	WDR70_ENST00000504564.1_Missense_Mutation_p.K254M|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	254							enzyme binding (GO:0019899)	p.K254M(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTCAGGCCAAGGTGATTGAC	0.388																																																1	Substitution - Missense(1)	ovary(1)	5											213	200	204					5																	37480010		2203	4300	6503	37515767	SO:0001583	missense	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.761A>T	5.37:g.37480010A>T	ENSP00000265107:p.Lys254Met		37515767	Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580313	0.86645	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.89343	4.87;-2.5	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	D	0.95609	0.8670	10	0.66056	D	0.02	-29.8331	15.9009	0.79377	1.0:0.0:0.0:0.0	.	254;254	D6RIW8;Q9NW82	.;WDR70_HUMAN	M	254	ENSP00000265107:K254M;ENSP00000425841:K254M	ENSP00000265107:K254M	K	+	2	0	WDR70	37515767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.769000	0.91742	2.173000	0.68751	0.533000	0.62120	AAG		0.388	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		T	37480010	A	T	37480010	3	4	154	1	0	0	0	0	1	0	0	0	17321	72	3	5	791	5	WDR70	5	37480010	Missense_Mutation	SNP	A	TCGA-13-2060-01A-01W-0799-08		37480010	143435250	10	8603											
DMGDH	29958	broad.mit.edu	37	5	78359473	78359473	+	Missense_Mutation	SNP	T	T	C	rs369030617		TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr5:78359473T>C	ENST00000255189.3	-	2	267	c.239A>G	c.(238-240)gAg>gGg	p.E80G	DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000380311.4_Silent_p.G35G|DMGDH_ENST00000540686.1_Missense_Mutation_p.R6G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	80					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.E80G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTCTGATTTCTCCAGCAGGAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	5						T	GLY/GLU	0,4406		0,0,2203	233	200	211		239	5.5	1	5		211	1,8599	1.2+/-3.3	0,1,4299	no	missense	DMGDH	NM_013391.2	98	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	80/867	78359473	1,13005	2203	4300	6503	78395229	SO:0001583	missense	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.239A>G	5.37:g.78359473T>C	ENSP00000255189:p.Glu80Gly		78395229	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.068477|4.068477	0.76301|0.76301	0.0|0.0	1.16E-4|1.16E-4	ENSG00000132837|ENSG00000132837	ENST00000255189|ENST00000540686	D|T	0.92446|0.80738	-3.04|-1.41	5.52|5.52	5.52|5.52	0.82312|0.82312	FAD dependent oxidoreductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83450|0.83450	0.5257|0.5257	M|M	0.89414|0.89414	3.03|3.03	0.36262|0.36262	D|D	0.854634|0.854634	D|B	0.89917|0.24963	1.0|0.115	D|B	0.97110|0.23275	1.0|0.045	D|D	0.84588|0.84588	0.0665|0.0665	10|8	0.87932|.	D|.	0|.	.|.	15.9319|15.9319	0.79668|0.79668	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	80|6	Q9UI17|B4E1J9	M2GD_HUMAN|.	G|G	80|6	ENSP00000255189:E80G|ENSP00000439478:R6G	ENSP00000255189:E80G|.	E|R	-|-	2|1	0|2	DMGDH|DMGDH	78395229|78395229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.880000|7.880000	0.87243|0.87243	2.225000|2.225000	0.72522|0.72522	0.459000|0.459000	0.35465|0.35465	GAG|AGA		0.483	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		C	78359473	T	C	78359473	3	2	154	1	0	0	0	0	1	0	0	0	4581	1551	54	4	2421	4	DMGDH	5	78359473	Missense_Mutation	SNP	T	TCGA-13-2060-01A-01W-0799-08	40879463	78359473	102555787	11	8604											
FBN2	2201	broad.mit.edu	37	5	127685145	127685145	+	Silent	SNP	C	C	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr5:127685145C>T	ENST00000508053.1	-	29	3857	c.2883G>A	c.(2881-2883)gtG>gtA	p.V961V	FBN2_ENST00000508989.1_Silent_p.V928V|FBN2_ENST00000262464.4_Silent_p.V961V			P35556	FBN2_HUMAN	fibrillin 2	961	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V961V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCCAGGGAACACCTCACACT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	5											95	77	83					5																	127685145		2203	4300	6503	127713044	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2883G>A	5.37:g.127685145C>T			127713044	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127685145	C	T	127685145	2	4	154	1	0	0	0	0	0	0	0	1	5703	465	17	2		2	FBN2	5	127685145	Silent	SNP	C	TCGA-13-2060-01A-01W-0799-08	49325672	127685145	53230115	12	8605											
GMNN	51053	broad.mit.edu	37	6	24784337	24784337	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr6:24784337G>T	ENST00000230056.3	+	5	629	c.297G>T	c.(295-297)tgG>tgT	p.W99C	GMNN_ENST00000356509.3_Missense_Mutation_p.W99C	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	99	Necessary and sufficient for interaction with IDAS and CDT1.				mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)	p.W99C(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						CTCAGTATTGGAAGGAAGTGG	0.284																																																1	Substitution - Missense(1)	ovary(1)	6											45	46	45					6																	24784337		2203	4300	6503	24892316	SO:0001583	missense	51053			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.297G>T	6.37:g.24784337G>T	ENSP00000230056:p.Trp99Cys		24892316	B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838225	0.71373	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000378059	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66348	-0.5946	10	0.87932	D	0	-14.9459	14.5133	0.67802	0.0701:0.0:0.9299:0.0	.	99	O75496	GEMI_HUMAN	C	99	ENSP00000348902:W99C;ENSP00000230056:W99C;ENSP00000367293:W99C;ENSP00000367298:W99C	ENSP00000230056:W99C	W	+	3	0	GMNN	24892316	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.478000	0.73596	2.890000	0.99128	0.650000	0.86243	TGG		0.284	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895		T	24784337	G	T	24784337	3	4	154	1	0	0	0	0	1	0	0	0	6493	1183	41	3	311	3	GMNN	6	24784337	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08		24784337	146330730	13	8606											
BRD2	6046	broad.mit.edu	37	6	32944462	32944462	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr6:32944462C>T	ENST00000374825.4	+	7	2650	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	BRD2_ENST00000395289.2_Missense_Mutation_p.R317C|BRD2_ENST00000449085.2_Missense_Mutation_p.R270C|BRD2_ENST00000443797.2_Missense_Mutation_p.R197C|BRD2_ENST00000395287.1_Missense_Mutation_p.R317C|BRD2_ENST00000374831.4_Missense_Mutation_p.R317C	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	317					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.R317C(1)		central_nervous_system(3)|stomach(2)	5						TCCCCCTATGCGTAGAGAGAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	6											111	104	107					6																	32944462		1511	2709	4220	33052440	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.949C>T	6.37:g.32944462C>T	ENSP00000363958:p.Arg317Cys		33052440	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948042	0.53186	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.12039	2.87;2.87;2.83;2.72;2.83;2.85	5.19	2.34	0.29019	.	0.000000	0.49305	D	0.000145	T	0.26774	0.0655	M	0.88775	2.98	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.05084	-1.0907	10	0.87932	D	0	-11.9101	7.3382	0.26621	0.2989:0.6204:0.0:0.0807	.	317;317	A2AAU0;P25440	.;BRD2_HUMAN	C	317;317;317;197;317;270	ENSP00000363958:R317C;ENSP00000363964:R317C;ENSP00000378704:R317C;ENSP00000413495:R197C;ENSP00000378702:R317C;ENSP00000409145:R270C	ENSP00000363958:R317C	R	+	1	0	BRD2	33052440	0.317000	0.24589	0.890000	0.34922	0.868000	0.49771	0.522000	0.22909	0.387000	0.25024	0.643000	0.83706	CGT		0.547	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			T	32944462	C	T	32944462	3	4	154	1	0	0	0	0	1	0	0	0	1502	768	27	1	971	1	BRD2	6	32944462	Missense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08	8160125	32944462	138170605	14	8607											
MRPL14	64928	broad.mit.edu	37	6	44081843	44081843	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr6:44081843G>T	ENST00000372014.3	-	3	306	c.175C>A	c.(175-177)Cat>Aat	p.H59N		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	59					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.H59N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TTATAGACATGGATGCAGCGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	6											192	192	192					6																	44081843		2203	4300	6503	44189821	SO:0001583	missense	64928			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"Mitochondrial ribosomal proteins / large subunits"	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.175C>A	6.37:g.44081843G>T	ENSP00000361084:p.His59Asn		44189821	B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299300	0.60195	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.79	5.79	0.91817	Ribosomal protein L14 domain (2);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72340	-0.4323	9	0.62326	D	0.03	-3.8681	19.0191	0.92906	0.0:0.0:1.0:0.0	.	59	Q6P1L8	RM14_HUMAN	N	59	.	ENSP00000361084:H59N	H	-	1	0	MRPL14	44189821	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	9.858000	0.99539	2.728000	0.93425	0.561000	0.74099	CAT		0.562	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		T	44081843	G	T	44081843	3	4	154	1	0	0	0	0	1	0	0	0	9779	1348	47	3	266	3	MRPL14	6	44081843	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08	11137381	44081843	127033224	15	8608											
DDX43	55510	broad.mit.edu	37	6	74104868	74104868	+	Silent	SNP	C	C	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr6:74104868C>T	ENST00000370336.4	+	1	398	c.240C>T	c.(238-240)ggC>ggT	p.G80G	DDX43_ENST00000539829.1_Silent_p.G80G|snoU13_ENST00000459178.1_RNA|OOEP_ENST00000370363.1_5'Flank	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	80	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.G80G(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACTTTGTTGGCGCGGTAATCG	0.647											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	6											45	35	38					6																	74104868		2203	4299	6502	74161589	SO:0001819	synonymous_variant	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.240C>T	6.37:g.74104868C>T		1150	74161589	B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	CCDS4977.1																																																																																				0.647	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		T	74104868	C	T	74104868	2	4	154	1	0	0	0	0	0	0	0	1	4363	755	27	1		1	DDX43	6	74104868	Silent	SNP	C	TCGA-13-2060-01A-01W-0799-08	30023025	74104868	97010199	16	8609											
RRAGD	58528	broad.mit.edu	37	6	90077897	90077897	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr6:90077897G>A	ENST00000369415.4	-	7	1357	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	RRAGD_ENST00000359203.3_Missense_Mutation_p.R210W	NM_021244.4	NP_067067.1			Ras-related GTP binding D									p.R361W(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		ATGGCCTTCCGGAAGCAATGA	0.388											OREG0017566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	6											66	71	69					6																	90077897		2203	4300	6503	90134616	SO:0001583	missense	58528			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.1081C>T	6.37:g.90077897G>A	ENSP00000358423:p.Arg361Trp	1272	90134616		Missense_Mutation	SNP	ENST00000369415.4	37	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235973	0.79800	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	5.56	5.56	0.83823	.	0.055860	0.64402	D	0.000001	T	0.80924	0.4717	M	0.81802	2.56	0.53688	D	0.999971	D	0.89917	1.0	D	0.68621	0.959	T	0.82432	-0.0460	9	0.87932	D	0	-14.1004	19.8898	0.96926	0.0:0.0:1.0:0.0	.	361	Q9NQL2	RRAGD_HUMAN	W	361;210	.	ENSP00000352131:R210W	R	-	1	2	RRAGD	90134616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.070000	0.50033	2.775000	0.95449	0.655000	0.94253	CGG		0.388	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		A	90077897	G	A	90077897	3	1	154	1	0	0	0	0	1	0	0	0	13678	1115	39	1	125	1	RRAGD	6	90077897	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08	15973029	90077897	81037170	17	8610											
ABCB1	5243	broad.mit.edu	37	7	87144576	87144576	+	Missense_Mutation	SNP	G	G	A	rs199943026		TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr7:87144576G>A	ENST00000265724.3	-	26	3670	c.3253C>T	c.(3253-3255)Cgg>Tgg	p.R1085W	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1021W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1085	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R1085W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCGTAGAACCGCTCCAGGAGC	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											63	59	60					7																	87144576		2203	4300	6503	86982512	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3253C>T	7.37:g.87144576G>A	ENSP00000265724:p.Arg1085Trp		86982512	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154698	0.78114	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92397	-3.03;-3.03	6.06	2.89	0.33648	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97461	1.0034	10	0.87932	D	0	-17.7037	14.2901	0.66270	0.0:0.0:0.49:0.51	.	1021;1085	B5AK60;P08183	.;MDR1_HUMAN	W	866;1085;1021	ENSP00000265724:R1085W;ENSP00000444095:R1021W	ENSP00000265724:R1085W	R	-	1	2	ABCB1	86982512	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	1.287000	0.33284	0.841000	0.35020	-0.181000	0.13052	CGG		0.527	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87144576	G	A	87144576	3	1	154	1	0	0	0	0	1	0	0	0	40	1086	38	1	605	1	ABCB1	7	87144576	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08		87144576	71994087	18	8611											
CNTNAP2	26047	broad.mit.edu	37	7	147869553	147869553	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr7:147869553G>T	ENST00000361727.3	+	18	3509	c.2993G>T	c.(2992-2994)gGa>gTa	p.G998V	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G57V	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	998	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.G998V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCATATGATGGAACATTTTGC	0.403										HNSCC(39;0.1)																																						1	Substitution - Missense(1)	ovary(1)	7											149	148	149					7																	147869553		2203	4300	6503	147500486	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2993G>T	7.37:g.147869553G>T	ENSP00000354778:p.Gly998Val		147500486	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903017	0.52227	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;D	0.87491	-2.26;-2.26	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95475	0.8530	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96636	0.9470	10	0.87932	D	0	.	17.4971	0.87720	0.0:0.0:1.0:0.0	.	998	Q9UHC6	CNTP2_HUMAN	V	998;57	ENSP00000354778:G998V;ENSP00000440732:G57V	ENSP00000354778:G998V	G	+	2	0	CNTNAP2	147500486	1.000000	0.71417	0.127000	0.21898	0.182000	0.23217	9.694000	0.98686	2.483000	0.83821	0.563000	0.77884	GGA		0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147869553	G	T	147869553	3	4	154	1	0	0	0	0	1	0	0	0	3647	1174	41	3	3063	3	CNTNAP2	7	147869553	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08	60724977	147869553	11269110	19	8612											
CNBD1	168975	broad.mit.edu	37	8	87951898	87951898	+	Missense_Mutation	SNP	A	A	G	rs573773859		TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr8:87951898A>G	ENST00000518476.1	+	4	398	c.347A>G	c.(346-348)cAg>cGg	p.Q116R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	116								p.Q116R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GTCCATGTTCAGAGAGCACAT	0.323																																																1	Substitution - Missense(1)	ovary(1)	8											86	83	84					8																	87951898		1826	4085	5911	88021014	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.347A>G	8.37:g.87951898A>G	ENSP00000430073:p.Gln116Arg		88021014		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	3.610	-0.079733	0.07141	.	.	ENSG00000176571	ENST00000518476	D	0.97114	-4.25	4.89	-1.9	0.07665	.	1.251270	0.05539	N	0.565448	D	0.88325	0.6406	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81389	-0.0955	10	0.13108	T	0.6	.	8.9499	0.35783	0.5653:0.0:0.4347:0.0	.	116	Q8NA66	CNBD1_HUMAN	R	116	ENSP00000430073:Q116R	ENSP00000430073:Q116R	Q	+	2	0	CNBD1	88021014	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.048000	0.14078	-0.393000	0.07739	0.467000	0.42956	CAG		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		G	87951898	A	G	87951898	3	3	154	1	0	0	0	0	1	0	0	0	3591	188	7	4	361	4	CNBD1	8	87951898	Missense_Mutation	SNP	A	TCGA-13-2060-01A-01W-0799-08		87951898	58412124	20	8613											
FAM135B	51059	broad.mit.edu	37	8	139165263	139165263	+	Silent	SNP	A	A	G			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr8:139165263A>G	ENST00000395297.1	-	13	1625	c.1455T>C	c.(1453-1455)aaT>aaC	p.N485N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	485								p.N485N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGTGGCCACATTCTCACCTG	0.393										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	ovary(2)	8											130	123	125					8																	139165263		1934	4146	6080	139234445	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1455T>C	8.37:g.139165263A>G			139234445	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.393	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		G	139165263	A	G	139165263	2	3	154	1	0	0	0	0	0	0	0	1	5449	214	8	4		4	FAM135B	8	139165263	Silent	SNP	A	TCGA-13-2060-01A-01W-0799-08	51213365	139165263	7198759	21	8614											
TBC1D2	55357	broad.mit.edu	37	9	101006376	101006376	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr9:101006376G>C	ENST00000375064.1	-	3	585	c.547C>G	c.(547-549)Cct>Gct	p.P183A	TBC1D2_ENST00000375066.5_Missense_Mutation_p.P183A|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	183					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.P183A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTTTCACAGGGCACAGGAAC	0.557																																																1	Substitution - Missense(1)	ovary(1)	9											38	34	35					9																	101006376		2203	4300	6503	100046197	SO:0001583	missense	55357			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.547C>G	9.37:g.101006376G>C	ENSP00000364205:p.Pro183Ala		100046197	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		.	.	.	.	.	.	.	.	.	.	G	6.649	0.488312	0.12641	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.06933	3.53;3.24	5.08	5.08	0.68730	.	0.268141	0.32106	N	0.006569	T	0.10766	0.0263	L	0.45698	1.435	0.80722	D	1	P;P	0.46859	0.817;0.885	B;P	0.48189	0.366;0.57	T	0.03863	-1.0997	10	0.02654	T	1	.	13.9895	0.64357	0.0:0.0:1.0:0.0	.	183;183	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	A	183	ENSP00000364205:P183A;ENSP00000364207:P183A	ENSP00000364205:P183A	P	-	1	0	TBC1D2	100046197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.064000	0.64338	2.362000	0.80069	0.655000	0.94253	CCT		0.557	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		C	101006376	G	C	101006376	3	2	154	1	0	0	0	0	1	0	0	0	15608	1232	43	3	2250	3	TBC1D2	9	101006376	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08		101006376	40207055	22	8615											
BEND7	222389	broad.mit.edu	37	10	13541893	13541893	+	Silent	SNP	C	C	T	rs149156418		TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr10:13541893C>T	ENST00000396900.2	-	3	332	c.333G>A	c.(331-333)ccG>ccA	p.P111P	BEND7_ENST00000396898.2_Silent_p.P111P|BEND7_ENST00000378605.3_Silent_p.P59P|BEND7_ENST00000341083.3_Silent_p.P59P			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	111						extracellular vesicular exosome (GO:0070062)		p.P59P(3)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACGTGAAGACGGGTGGAGGC	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		16375	0		0	False		,,,				2504	0															3	Substitution - coding silent(3)	prostate(2)|ovary(1)	10						C	,	1,4405	2.1+/-5.4	0,1,2202	76	79	78		177,177	-5.4	0	10	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BEND7	NM_001100912.1,NM_152751.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	59/375,59/469	13541893	2,13004	2203	4300	6503	13581899	SO:0001819	synonymous_variant	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.333G>A	10.37:g.13541893C>T			13581899	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37																																																																																					0.562	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		T	13541893	C	T	13541893	2	4	154	1	0	0	0	0	0	0	0	1	1403	523	19	1		1	BEND7	10	13541893	Silent	SNP	C	TCGA-13-2060-01A-01W-0799-08		13541893	121992854	23	8616											
RET	5979	broad.mit.edu	37	10	43609955	43609955	+	Missense_Mutation	SNP	C	C	T	rs121913310		TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr10:43609955C>T	ENST00000355710.3	+	11	2139	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	RET_ENST00000340058.5_Missense_Mutation_p.T636M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	636			T -> TCRT (in MEN2A). {ECO:0000269|PubMed:9452064}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D631_I638>A(1)|p.T636M(1)|p.E632_A640>VRP(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGTGCCGCACGGTGATCGCA	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	3	Complex - deletion inframe(2)|Substitution - Missense(1)	thyroid(2)|ovary(1)	10											140	86	104					10																	43609955		2203	4300	6503	42929961	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1907C>T	10.37:g.43609955C>T	ENSP00000347942:p.Thr636Met		42929961	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583997	0.46110	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98512	-1.22;-4.97;-1.34	4.52	3.53	0.40419	.	0.093199	0.64402	D	0.000001	D	0.95592	0.8567	L	0.38531	1.155	0.58432	D	0.999999	B;B;P	0.41080	0.43;0.369;0.737	B;B;B	0.40477	0.081;0.075;0.33	D	0.94496	0.7705	10	0.31617	T	0.26	.	13.0907	0.59166	0.0:0.9094:0.0:0.0906	.	382;636;636	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	M	636;153;636	ENSP00000347942:T636M;ENSP00000419080:T153M;ENSP00000344798:T636M	ENSP00000344798:T636M	T	+	2	0	RET	42929961	0.994000	0.37717	0.935000	0.37517	0.845000	0.48019	3.187000	0.50950	2.345000	0.79718	0.462000	0.41574	ACG		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43609955	C	T	43609955	3	4	154	1	0	0	0	0	1	0	0	0	13238	536	19	1	1949	1	RET	10	43609955	Missense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08	30068062	43609955	91924792	24	8617											
ACCSL	390110	broad.mit.edu	37	11	44081447	44081447	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr11:44081447T>G	ENST00000378832.1	+	14	1740	c.1684T>G	c.(1684-1686)Ttg>Gtg	p.L562V		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	562					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.L562V(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGTGAAGCAGTTGGAGGATGC	0.537																																																1	Substitution - Missense(1)	ovary(1)	11											263	262	262					11																	44081447		2054	4206	6260	44038023	SO:0001583	missense	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1684T>G	11.37:g.44081447T>G	ENSP00000368109:p.Leu562Val		44038023		Missense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	T	8.312	0.822385	0.16678	.	.	ENSG00000205126	ENST00000378832	T	0.69040	-0.37	3.74	0.719	0.18208	.	0.376195	0.24236	N	0.040301	T	0.48409	0.1498	L	0.43152	1.355	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.20338	-1.0278	10	0.23891	T	0.37	0.0354	3.453	0.07505	0.0:0.5077:0.2307:0.2615	.	562	Q4AC99	1A1L2_HUMAN	V	562	ENSP00000368109:L562V	ENSP00000368109:L562V	L	+	1	2	ACCSL	44038023	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.503000	0.06383	0.159000	0.19401	-0.366000	0.07423	TTG		0.537	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		G	44081447	T	G	44081447	3	3	154	1	0	0	0	0	1	0	0	0	134	1722	60	5	1738	5	ACCSL	11	44081447	Missense_Mutation	SNP	T	TCGA-13-2060-01A-01W-0799-08		44081447	90925069	25	8618											
AGBL2	79841	broad.mit.edu	37	11	47707507	47707507	+	Missense_Mutation	SNP	G	G	T	rs377387294		TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr11:47707507G>T	ENST00000525123.1	-	11	2011	c.1726C>A	c.(1726-1728)Cgc>Agc	p.R576S	AGBL2_ENST00000357610.3_Missense_Mutation_p.R576S|AGBL2_ENST00000528244.1_Missense_Mutation_p.R538S|AGBL2_ENST00000298861.4_Missense_Mutation_p.R576S|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	576						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R576S(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAGTATTTGCGATTGTTGTTA	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											214	196	202					11																	47707507		2201	4298	6499	47664083	SO:0001583	missense	79841				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1726C>A	11.37:g.47707507G>T	ENSP00000435582:p.Arg576Ser		47664083	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337153	0.24253	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.06	5.06	0.68205	Peptidase M14, carboxypeptidase A (1);	0.561345	0.19739	N	0.107163	T	0.06005	0.0156	N	0.05012	-0.13	0.09310	N	1	B;B;B	0.16603	0.014;0.005;0.018	B;B;B	0.23574	0.047;0.036;0.036	T	0.32587	-0.9901	10	0.09084	T	0.74	-6.6998	15.4253	0.75045	0.0:0.149:0.851:0.0	.	538;538;576	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	S	576;576;576;538	ENSP00000435582:R576S;ENSP00000350228:R576S;ENSP00000298861:R576S;ENSP00000436630:R538S	ENSP00000298861:R576S	R	-	1	0	AGBL2	47664083	0.001000	0.12720	0.493000	0.27502	0.901000	0.52897	1.134000	0.31442	2.522000	0.85027	0.491000	0.48974	CGC		0.363	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		T	47707507	G	T	47707507	3	4	154	1	0	0	0	0	1	0	0	0	376	1058	37	3	1018	3	AGBL2	11	47707507	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08	3626060	47707507	87299009	26	8619											
AAAS	8086	broad.mit.edu	37	12	53701429	53701429	+	Silent	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr12:53701429G>A	ENST00000209873.4	-	16	1650	c.1485C>T	c.(1483-1485)agC>agT	p.S495S	AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000394384.3_Silent_p.S462S|AAAS_ENST00000550286.1_Silent_p.S371S	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	495					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.S495S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CAAGCACTGGGCTAAAACGTG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	12											85	89	88					12																	53701429		2203	4300	6503	51987696	SO:0001819	synonymous_variant	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1485C>T	12.37:g.53701429G>A			51987696	Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	CCDS8856.1																																																																																				0.582	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			A	53701429	G	A	53701429	2	1	154	1	0	0	0	0	0	0	0	1	8	1194	42	2		2	AAAS	12	53701429	Silent	SNP	G	TCGA-13-2060-01A-01W-0799-08		53701429	80150466	27	8620											
ATP6V0A2	23545	broad.mit.edu	37	12	124233130	124233130	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr12:124233130G>A	ENST00000330342.3	+	15	1981	c.1733G>A	c.(1732-1734)aGg>aAg	p.R578K		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	578					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.R578K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGGCACTTCAGGAAGAAGTTC	0.373																																																1	Substitution - Missense(1)	ovary(1)	12											116	120	119					12																	124233130		2203	4300	6503	122799083	SO:0001583	missense	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1733G>A	12.37:g.124233130G>A	ENSP00000332247:p.Arg578Lys		122799083	A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	5.050	0.194847	0.09599	.	.	ENSG00000185344	ENST00000330342	D	0.83419	-1.72	5.46	3.26	0.37387	.	0.177367	0.64402	D	0.000013	T	0.54711	0.1875	N	0.02765	-0.5	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.53781	-0.8390	10	0.02654	T	1	-29.9725	6.9343	0.24459	0.3423:0.0:0.6577:0.0	.	578	Q9Y487	VPP2_HUMAN	K	578	ENSP00000332247:R578K	ENSP00000332247:R578K	R	+	2	0	ATP6V0A2	122799083	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.957000	0.40392	1.442000	0.47568	-0.263000	0.10527	AGG		0.373	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		A	124233130	G	A	124233130	3	1	154	1	0	0	0	0	1	0	0	0	1169	1000	35	2	1791	2	ATP6V0A2	12	124233130	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08	70531701	124233130	9618765	28	8621											
ATP11A	23250	broad.mit.edu	37	13	113512571	113512571	+	Silent	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr13:113512571G>A	ENST00000487903.1	+	22	2722	c.2634G>A	c.(2632-2634)agG>agA	p.R878R	ATP11A_ENST00000375630.2_Silent_p.R878R|ATP11A_ENST00000375645.3_Silent_p.R878R|ATP11A_ENST00000283558.8_Silent_p.R878R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	878					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R878R(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTACATTAGGATCTCTGAGC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	13											97	95	96					13																	113512571		2203	4300	6503	112560572	SO:0001819	synonymous_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2634G>A	13.37:g.113512571G>A			112560572	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	3.163	-0.171779	0.06421	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.62	0.777	0.18538	.	.	.	.	.	T	0.53158	0.1779	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38478	-0.9659	4	.	.	.	.	6.4664	0.21983	0.2718:0.1197:0.6085:0.0	.	.	.	.	E	853	.	.	G	+	2	0	ATP11A	112560572	0.658000	0.27402	0.038000	0.18304	0.272000	0.26649	-0.151000	0.10175	-0.181000	0.10619	0.655000	0.94253	GGA		0.522	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113512571	G	A	113512571	2	1	154	1	0	0	0	0	0	0	0	1	1119	1165	41	2		2	ATP11A	13	113512571	Silent	SNP	G	TCGA-13-2060-01A-01W-0799-08		113512571	1657307	29	8622											
ZFYVE26	23503	broad.mit.edu	37	14	68274137	68274137	+	Silent	SNP	C	C	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr14:68274137C>T	ENST00000347230.4	-	5	1002	c.864G>A	c.(862-864)ccG>ccA	p.P288P	ZFYVE26_ENST00000555452.1_Silent_p.P288P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	288					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.P288P(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGTAGCCCTCGGTGGCTTTT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	14											42	44	43					14																	68274137		2203	4300	6503	67343890	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.864G>A	14.37:g.68274137C>T			67343890	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																				0.582	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		T	68274137	C	T	68274137	2	4	154	1	0	0	0	0	0	0	0	1	17668	871	31	1		1	ZFYVE26	14	68274137	Silent	SNP	C	TCGA-13-2060-01A-01W-0799-08		68274137	39075403	30	8623											
C15orf42	90381	broad.mit.edu	37	15	90119447	90119447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr15:90119447G>A	ENST00000268138.7	+	1	735	c.630G>A	c.(628-630)tgG>tgA	p.W210*	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Nonsense_Mutation_p.W210*			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	210					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.W210*(1)									CCTTCTACTGGGTGGATACCA	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	15											28	29	29					15																	90119447		2047	4188	6235	87920451	SO:0001587	stop_gained	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.630G>A	15.37:g.90119447G>A	ENSP00000268138:p.Trp210*		87920451	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	36	5.706403	0.96821	.	.	ENSG00000140534	ENST00000268138	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1635	16.1716	0.81820	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000268138:W210X	W	+	3	0	C15orf42	87920451	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.106000	0.89555	2.014000	0.59158	0.467000	0.42956	TGG		0.557	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		A	90119447	G	A	90119447	4	1	154	1	0	0	0	0	0	1	0	0	1796	1241	43	2	632	2	C15orf42	15	90119447	Nonsense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08		90119447	12411945	31	8624											
TRAF7	84231	broad.mit.edu	37	16	2223967	2223967	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr16:2223967G>A	ENST00000326181.6	+	13	1313	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	394					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G394D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ACCTTTGTGGGCCACCAGGGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	16											112	112	112					16																	2223967		2198	4300	6498	2163968	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1181G>A	16.37:g.2223967G>A	ENSP00000318944:p.Gly394Asp		2163968	Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496665	0.85069	.	.	ENSG00000131653	ENST00000326181	T	0.70045	-0.45	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84001	0.0343	10	0.87932	D	0	-42.6522	17.5923	0.88000	0.0:0.0:1.0:0.0	.	394	Q6Q0C0	TRAF7_HUMAN	D	394	ENSP00000318944:G394D	ENSP00000318944:G394D	G	+	2	0	TRAF7	2163968	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	9.596000	0.98267	2.623000	0.88846	0.655000	0.94253	GGC		0.617	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		A	2223967	G	A	2223967	3	1	154	1	0	0	0	0	1	0	0	0	16446	1203	42	2	1227	2	TRAF7	16	2223967	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08		2223967	88130786	32	8625											
A2BP1	54715	broad.mit.edu	37	16	7680668	7680668	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr16:7680668T>C	ENST00000550418.1	+	11	1728	c.740T>C	c.(739-741)cTt>cCt	p.L247P	RBFOX1_ENST00000535565.2_Missense_Mutation_p.L204P|RBFOX1_ENST00000340209.4_Missense_Mutation_p.L252P|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L247P|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L267P|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.L264P|RBFOX1_ENST00000547372.1_Missense_Mutation_p.L290P|RBFOX1_ENST00000355637.4_Missense_Mutation_p.L267P|RBFOX1_ENST00000436368.2_Missense_Mutation_p.L267P|RBFOX1_ENST00000422070.4_Missense_Mutation_p.L290P	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	247					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCAGTTCACTTGTATATACT	0.493																																					Ovarian(157;934 2567 15163 39509)											0			16											182	151	162					16																	7680668		2197	4300	6497	7620669	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.740T>C	16.37:g.7680668T>C	ENSP00000450031:p.Leu247Pro		7620669	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494926	0.64186	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000340209	T;T;T;T;T;T;T;T;T;T	0.33865	1.86;1.39;1.62;1.67;1.76;1.39;1.56;1.76;1.69;1.4	4.78	4.78	0.61160	.	0.421756	0.22526	N	0.058907	T	0.32466	0.0830	N	0.08118	0	0.80722	D	1	D;P;P;B;P;B;D	0.64830	0.994;0.627;0.467;0.001;0.911;0.158;0.976	P;B;B;B;P;B;P	0.56751	0.805;0.091;0.26;0.008;0.563;0.065;0.792	T	0.18304	-1.0341	10	0.35671	T	0.21	-7.0511	12.9198	0.58226	0.0:0.0:0.0:1.0	.	204;290;267;267;267;247;290	F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1;F8VZG9	.;.;.;.;.;RFOX1_HUMAN;.	P	246;247;290;290;204;264;247;247;267;267;267;252	ENSP00000450402:L246P;ENSP00000450031:L247P;ENSP00000446842:L290P;ENSP00000391269:L290P;ENSP00000447281:L247P;ENSP00000447717:L247P;ENSP00000402745:L267P;ENSP00000309117:L267P;ENSP00000347855:L267P;ENSP00000344196:L252P	ENSP00000309117:L267P	L	+	2	0	RBFOX1	7620669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.696000	0.61774	1.790000	0.52503	0.455000	0.32223	CTT		0.493	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		C	7680668	T	C	7680668	3	2	154	1	0	0	0	0	1	0	0	0	3	1609	56	4	861	4	A2BP1	16	7680668	Missense_Mutation	SNP	T	TCGA-13-2060-01A-01W-0799-08	5456701	7680668	82674085	33	8626											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	17											47	47	47					17																	7578394		2203	4300	6503	7519119	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		7519119	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	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578394	T	C	7578394	3	2	154	1	0	0	0	0	1	0	0	0	16381	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-13-2060-01A-01W-0799-08		7578394	73616816	34	8627											
KIF18B	146909	broad.mit.edu	37	17	43010045	43010045	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr17:43010045C>T	ENST00000593135.1	-	9	1331	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	KIF18B_ENST00000438933.2_Missense_Mutation_p.E412K|KIF18B_ENST00000339151.4_Missense_Mutation_p.E412K|KIF18B_ENST00000590129.1_Missense_Mutation_p.E421K|KIF18B_ENST00000587309.1_Missense_Mutation_p.E412K	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	421	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.E412K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ACTCACTGTTCTGGTGGTGGT	0.627																																																1	Substitution - Missense(1)	ovary(1)	17											94	107	103					17																	43010045		1961	4130	6091	40365571	SO:0001583	missense	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1234G>A	17.37:g.43010045C>T	ENSP00000465992:p.Glu412Lys		40365571	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391089	0.62066	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72615	-0.67;-0.67	5.3	-0.59	0.11679	.	.	.	.	.	T	0.41465	0.1160	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.16988	-1.0384	9	0.21014	T	0.42	.	2.0449	0.03558	0.1489:0.3443:0.2643:0.2426	.	421;421;421	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	K	412	ENSP00000412798:E412K;ENSP00000341466:E412K	ENSP00000341466:E412K	E	-	1	0	KIF18B	40365571	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.153000	0.10144	-0.149000	0.11215	-0.225000	0.12378	GAA		0.627	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		T	43010045	C	T	43010045	3	4	154	1	0	0	0	0	1	0	0	0	8281	922	32	2	1364	2	KIF18B	17	43010045	Missense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08	35431651	43010045	38185165	35	8628											
DCC	1630	broad.mit.edu	37	18	50832017	50832017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr18:50832017C>T	ENST00000442544.2	+	13	2597	c.1981C>T	c.(1981-1983)Cga>Tga	p.R661*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R316*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R509*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	661	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R661*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTATAAAATTCGACACAGAAA	0.423																																																1	Substitution - Nonsense(1)	ovary(1)	18											72	82	79					18																	50832017		2203	4300	6503	49086015	SO:0001587	stop_gained	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1981C>T	18.37:g.50832017C>T	ENSP00000389140:p.Arg661*		49086015		Nonsense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	40	8.205656	0.98704	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.58	5.58	0.84498	.	0.086607	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7178	0.91682	0.0:1.0:0.0:0.0	.	.	.	.	X	661;594;509	.	ENSP00000304146:R594X	R	+	1	2	DCC	49086015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.710000	0.68392	2.774000	0.95407	0.655000	0.94253	CGA		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		T	50832017	C	T	50832017	4	4	154	1	0	0	0	0	0	1	0	0	4282	876	31	1	2031	1	DCC	18	50832017	Nonsense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08		50832017	27245231	36	8629											
ONECUT2	9480	broad.mit.edu	37	18	55143729	55143729	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr18:55143729G>A	ENST00000491143.2	+	2	1321	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	430					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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 positive regulation of transcription (GO:0001077)	p.R430H(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AAGAAGTCCCGCCTGGTGTTC	0.517																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	18											52	58	56					18																	55143729		2019	4199	6218	53294727	SO:0001583	missense	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1289G>A	18.37:g.55143729G>A	ENSP00000419185:p.Arg430His		53294727		Missense_Mutation	SNP	ENST00000491143.2	37	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175033	0.94807	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	6.02	6.02	0.97574	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89746	0.6804	H	0.95816	3.725	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91589	0.5285	9	0.72032	D	0.01	-21.7544	20.1323	0.98003	0.0:0.0:1.0:0.0	.	430	O95948	ONEC2_HUMAN	H	411;430	.	ENSP00000262095:R430H	R	+	2	0	ONECUT2	53294727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	CGC		0.517	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			A	55143729	G	A	55143729	3	1	154	1	0	0	0	0	1	0	0	0	10869	1087	38	1	1295	1	ONECUT2	18	55143729	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08	4311712	55143729	22933519	37	8630											
RFXANK	8625	broad.mit.edu	37	19	19309992	19309992	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr19:19309992G>A	ENST00000303088.4	+	9	1135	c.661G>A	c.(661-663)Gac>Aac	p.D221N	RFXANK_ENST00000353145.1_Missense_Mutation_p.D198N|RFXANK_ENST00000392324.4_Missense_Mutation_p.D198N|RFXANK_ENST00000456252.3_Missense_Mutation_p.D199N|RFXANK_ENST00000407360.3_Missense_Mutation_p.D221N	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	221					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.D221N(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CACCGAAGCCGACTCTGGCTA	0.667																																																1	Substitution - Missense(1)	ovary(1)	19											76	75	75					19																	19309992		2203	4300	6503	19170992	SO:0001583	missense	8625			AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"Ankyrin repeat domain containing"	9987	protein-coding gene	gene with protein product	"ankyrin repeat-containing regulatory factor X-associated protein", "regulatory factor X subunit B", "RFX-Bdelta4", "DNA-binding protein RFXANK"	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.661G>A	19.37:g.19309992G>A	ENSP00000305071:p.Asp221Asn		19170992	O95839|Q24JQ1|Q6FGA8	Missense_Mutation	SNP	ENST00000303088.4	37	CCDS12395.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788045	0.90367	.	.	ENSG00000064490	ENST00000353145;ENST00000456252;ENST00000303088;ENST00000407360;ENST00000392324	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.19	5.19	0.71726	Ankyrin repeat-containing domain (3);	0.189268	0.53938	D	0.000056	T	0.60379	0.2264	L	0.52573	1.65	0.58432	D	0.999999	P;P;P;P	0.52692	0.955;0.924;0.839;0.91	P;P;P;B	0.49561	0.603;0.615;0.537;0.431	T	0.59247	-0.7490	10	0.02654	T	1	-31.3837	16.19	0.81981	0.0:0.0:1.0:0.0	.	221;199;198;221	Q6IB23;Q24JQ1;O14593-2;O14593	.;.;.;RFXK_HUMAN	N	198;199;221;220;198	ENSP00000262804:D198N;ENSP00000409138:D199N;ENSP00000305071:D221N;ENSP00000384572:D220N;ENSP00000376138:D198N	ENSP00000305071:D221N	D	+	1	0	RFXANK	19170992	1.000000	0.71417	0.967000	0.41034	0.809000	0.45718	8.638000	0.91019	2.435000	0.82474	0.561000	0.74099	GAC		0.667	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		A	19309992	G	A	19309992	3	1	154	1	0	0	0	0	1	0	0	0	13272	1058	37	1	687	1	RFXANK	19	19309992	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08		19309992	39818991	38	8631											
ZNF585B	92285	broad.mit.edu	37	19	37678050	37678050	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr19:37678050T>C	ENST00000532828.2	-	5	640	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y75C|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000527838.1_Missense_Mutation_p.Y130C	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y130C(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCACACTCATAGGATTTTTC	0.363																																					Melanoma(93;882 1454 18863 28917 48427)											1	Substitution - Missense(1)	ovary(1)	19											67	71	69					19																	37678050		2202	4300	6502	42369890	SO:0001583	missense	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.389A>G	19.37:g.37678050T>C	ENSP00000433773:p.Tyr130Cys		42369890	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	0.163	-1.078887	0.01903	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.37235	1.21;1.21;6.44	2.71	0.0434	0.14221	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.260319	0.20351	N	0.094046	T	0.36413	0.0966	M	0.79693	2.465	0.34909	D	0.747298	D	0.58620	0.983	B	0.44044	0.439	T	0.47636	-0.9102	10	0.59425	D	0.04	.	4.5742	0.12225	0.1917:0.0:0.1981:0.6102	.	130	Q52M93	Z585B_HUMAN	C	75;130;130	ENSP00000436774:Y75C;ENSP00000433773:Y130C;ENSP00000435268:Y130C	ENSP00000435268:Y130C	Y	-	2	0	ZNF585B	42369890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.119000	0.15626	-0.198000	0.10333	0.374000	0.22700	TAT		0.363	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		C	37678050	T	C	37678050	3	2	154	1	0	0	0	0	1	0	0	0	18018	1406	49	4	1924	4	ZNF585B	19	37678050	Missense_Mutation	SNP	T	TCGA-13-2060-01A-01W-0799-08	18368058	37678050	21450933	39	8632											
C20orf3	57136	broad.mit.edu	37	20	24949674	24949674	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chr20:24949674C>T	ENST00000217456.2	-	8	1185	c.895G>A	c.(895-897)Gag>Aag	p.E299K	APMAP_ENST00000447138.1_Intron	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	299					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)	p.E299K(1)									GGCATGTTCTCCACAAACAGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	20											69	66	67					20																	24949674		2203	4300	6503	24897674	SO:0001583	missense	57136			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.895G>A	20.37:g.24949674C>T	ENSP00000217456:p.Glu299Lys		24897674	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	CCDS13166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.664714|4.664714	0.88251|0.88251	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000217456|ENST00000451442	T|.	0.31510|.	1.49|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Six-bladed beta-propeller, TolB-like (1);|.	0.131062|.	0.64402|.	D|.	0.000001|.	T|.	0.76300|.	0.3968|.	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	P;P|.	0.50443|.	0.935;0.615|.	P;B|.	0.45310|.	0.476;0.276|.	T|.	0.75422|.	-0.3323|.	10|.	0.42905|.	T|.	0.14|.	-28.3517|-28.3517	17.3202|17.3202	0.87233|0.87233	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	283;299|.	A2A2F9;Q9HDC9|.	.;APMAP_HUMAN|.	K|X	299|283	ENSP00000217456:E299K|.	ENSP00000217456:E299K|.	E|W	-|-	1|3	0|0	C20orf3|C20orf3	24897674|24897674	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	7.687000|7.687000	0.84139|0.84139	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	GAG|TGG		0.532	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		T	24949674	C	T	24949674	3	4	154	1	0	0	0	0	1	0	0	0	2109	864	30	2	363	2	C20orf3	20	24949674	Missense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08		24949674	38075846	40	8633											
HTR2C	3358	broad.mit.edu	37	X	114141779	114141779	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chrX:114141779C>T	ENST00000276198.1	+	6	1906	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.P393L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	393					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P393L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GAGAAAAAGCCTCCTGTCAGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	X											85	85	85					X																	114141779		2203	4300	6503	114048035	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1178C>T	X.37:g.114141779C>T	ENSP00000276198:p.Pro393Leu		114048035	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613951	0.28712	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.37235	1.21;1.21	4.75	2.88	0.33553	.	0.391707	0.25447	N	0.030605	T	0.25195	0.0612	L	0.46157	1.445	0.38761	D	0.954326	P	0.39920	0.695	B	0.36666	0.23	T	0.07578	-1.0765	10	0.34782	T	0.22	.	4.3217	0.11020	0.0:0.5998:0.1859:0.2143	.	393	P28335	5HT2C_HUMAN	L	393	ENSP00000276198:P393L;ENSP00000361019:P393L	ENSP00000276198:P393L	P	+	2	0	HTR2C	114048035	0.969000	0.33509	0.658000	0.29665	0.710000	0.40934	1.756000	0.38390	1.001000	0.39076	0.292000	0.19580	CCT		0.433	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		T	114141779	C	T	114141779	3	4	154	1	0	0	0	0	1	0	0	0	7443	681	24	2	1192	2	HTR2C	23	114141779	Missense_Mutation	SNP	C	TCGA-13-2060-01A-01W-0799-08		114141779	41128781	41	8634											
DOCK11	139818	broad.mit.edu	37	X	117809930	117809930	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2060-01A-01W-0799-08	TCGA-13-2060-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7e7386a0-3e3e-4d15-981b-a4d385937cee	423d1061-489b-4249-a24f-d2be07b5e623	g.chrX:117809930G>T	ENST00000276202.7	+	47	5294	c.5231G>T	c.(5230-5232)gGa>gTa	p.G1744V	DOCK11_ENST00000276204.6_Missense_Mutation_p.G1744V	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1744	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1744V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACTCTTCATGGAGCTTACACA	0.303																																																1	Substitution - Missense(1)	ovary(1)	X											37	36	36					X																	117809930		2202	4294	6496	117693958	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5231G>T	X.37:g.117809930G>T	ENSP00000276202:p.Gly1744Val		117693958	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163588	0.78226	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.16743	2.32;2.32	5.57	5.57	0.84162	.	0.054326	0.64402	D	0.000001	T	0.21962	0.0529	N	0.11064	0.09	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.59357	0.856;0.737	T	0.14254	-1.0479	10	0.49607	T	0.09	-19.1091	17.4003	0.87458	0.0:0.0:1.0:0.0	.	1744;1744	A6NIW2;Q5JSL3	.;DOC11_HUMAN	V	1744	ENSP00000276204:G1744V;ENSP00000276202:G1744V	ENSP00000276202:G1744V	G	+	2	0	DOCK11	117693958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.377000	0.73145	2.322000	0.78497	0.600000	0.82982	GGA		0.303	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		T	117809930	G	T	117809930	3	4	154	1	0	0	0	0	1	0	0	0	4686	1174	41	3	5417	3	DOCK11	23	117809930	Missense_Mutation	SNP	G	TCGA-13-2060-01A-01W-0799-08	3668151	117809930	37460630	42	8635											
EIF2C1	26523	genome.wustl.edu	37	1	36367577	36367577	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:36367577C>T	ENST00000373204.4	+	10	1382	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	AGO1_ENST00000373206.1_Missense_Mutation_p.P315L	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	390					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AACTTAGATCCCTACATCCAG	0.542																																																0			1											95	90	92					1																	36367577		2203	4300	6503	36140164	SO:0001583	missense	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1169C>T	1.37:g.36367577C>T	ENSP00000362300:p.Pro390Leu		36140164	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495181	0.64186	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.05717	3.4;3.4	6.06	6.06	0.98353	.	0.048972	0.85682	D	0.000000	T	0.19525	0.0469	M	0.91663	3.23	0.80722	D	1	P	0.41643	0.758	B	0.39027	0.288	T	0.06552	-1.0820	10	0.87932	D	0	-9.4494	20.6208	0.99490	0.0:1.0:0.0:0.0	.	390	Q9UL18	AGO1_HUMAN	L	315;390	ENSP00000362302:P315L;ENSP00000362300:P390L	ENSP00000362300:P390L	P	+	2	0	EIF2C1	36140164	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CCC		0.542	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			T	36367577	C	T	36367577	3	4	155	1	0	0	0	0	1	0	0	0	5005	623	22	2	1207	2	EIF2C1	1	36367577	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09		36367577	212883044	1	8636											
ROR1	4919	genome.wustl.edu	37	1	64624824	64624824	+	Silent	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:64624824C>T	ENST00000371079.1	+	8	1710	c.1335C>T	c.(1333-1335)caC>caT	p.H445H	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	445					peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACCAAAACACGTCAGAGGTC	0.453																																																0			1											187	165	172					1																	64624824		2203	4300	6503	64397412	SO:0001819	synonymous_variant	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1335C>T	1.37:g.64624824C>T			64397412	Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	CCDS626.1																																																																																				0.453	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		T	64624824	C	T	64624824	2	4	155	1	0	0	0	0	0	0	0	1	13529	535	19	1		1	ROR1	1	64624824	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09	28257247	64624824	184625797	2	8637											
AK5	26289	genome.wustl.edu	37	1	77763529	77763529	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:77763529T>C	ENST00000354567.2	+	5	859	c.596T>C	c.(595-597)aTt>aCt	p.I199T	AK5_ENST00000344720.5_Missense_Mutation_p.I173T|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	199	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAAACAACAATTACAGAGATA	0.338																																																0			1											81	82	82					1																	77763529		2203	4300	6503	77536117	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.596T>C	1.37:g.77763529T>C	ENSP00000346577:p.Ile199Thr		77536117	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412294	0.83340	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;T	0.77358	-1.09;-1.09;-1.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	L	0.60455	1.87	0.80722	D	1	D;D	0.71674	0.998;0.98	D;P	0.70016	0.967;0.721	D	0.85349	0.1100	10	0.87932	D	0	-0.0276	15.9245	0.79606	0.0:0.0:0.0:1.0	.	199;175	Q9Y6K8;Q8N291	KAD5_HUMAN;.	T	199;173;173	ENSP00000346577:I199T;ENSP00000341430:I173T;ENSP00000434409:I173T	ENSP00000341430:I173T	I	+	2	0	AK5	77536117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.236000	0.73375	0.528000	0.53228	ATT		0.338	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		C	77763529	T	C	77763529	3	2	155	1	0	0	0	0	1	0	0	0	443	1493	52	4	614	4	AK5	1	77763529	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	13138705	77763529	171487092	3	8638											
COL11A1	1301	genome.wustl.edu	37	1	103491156	103491156	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:103491156T>A	ENST00000370096.3	-	7	1223	c.911A>T	c.(910-912)gAt>gTt	p.D304V	COL11A1_ENST00000353414.4_Missense_Mutation_p.D265V|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.D316V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	304	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGAAAATCATCAACGATGTT	0.338																																																0			1											117	109	112					1																	103491156		2203	4299	6502	103263744	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.911A>T	1.37:g.103491156T>A	ENSP00000359114:p.Asp304Val		103263744	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.985059	0.35036	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88431	-2.38;-0.56;-2.32;-0.53	5.39	5.39	0.77823	.	0.187380	0.47852	D	0.000211	D	0.87815	0.6272	M	0.73962	2.25	0.80722	D	1	P;P;P	0.44429	0.835;0.835;0.745	P;P;B	0.46850	0.529;0.529;0.329	D	0.87253	0.2274	10	0.33940	T	0.23	.	15.4008	0.74841	0.0:0.0:0.0:1.0	.	265;316;304	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	V	304;316;265;316	ENSP00000359114:D304V;ENSP00000351163:D316V;ENSP00000302551:D265V;ENSP00000408640:D316V	ENSP00000302551:D265V	D	-	2	0	COL11A1	103263744	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	5.758000	0.68776	2.036000	0.60181	0.519000	0.50382	GAT		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103491156	T	A	103491156	3	1	155	1	0	0	0	0	1	0	0	0	3667	1435	50	5	4753	5	COL11A1	1	103491156	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	25727627	103491156	145759465	4	8639											
CD2	914	genome.wustl.edu	37	1	117297439	117297439	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:117297439C>A	ENST00000369478.3	+	2	356	c.248C>A	c.(247-249)aCa>aAa	p.T83K	CD2_ENST00000369477.1_Missense_Mutation_p.T83K	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	83	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAAAAAGATACATATAAGCTA	0.294																																					NSCLC(14;263 555 26380 43512 51332)											0			1											38	40	39					1																	117297439		2201	4295	6496	117098962	SO:0001583	missense	914			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.248C>A	1.37:g.117297439C>A	ENSP00000358490:p.Thr83Lys		117098962	Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	CCDS889.1	.	.	.	.	.	.	.	.	.	.	C	0.235	-1.018216	0.02078	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	T;T	0.65178	-0.14;-0.14	4.27	-3.48	0.04739	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.889113	0.09476	N	0.797051	T	0.15003	0.0362	N	0.16903	0.455	0.09310	N	1	B;B;B	0.24651	0.108;0.051;0.018	B;B;B	0.24974	0.057;0.042;0.021	T	0.29912	-0.9996	10	0.07030	T	0.85	0.0034	8.267	0.31819	0.5367:0.2173:0.2459:0.0	.	83;83;83	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	K	83	ENSP00000358490:T83K;ENSP00000358489:T83K	ENSP00000358489:T83K	T	+	2	0	CD2	117098962	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.857000	0.01660	-0.827000	0.04278	0.563000	0.77884	ACA		0.294	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		A	117297439	C	A	117297439	3	1	155	1	0	0	0	0	1	0	0	0	2979	478	17	3	254	3	CD2	1	117297439	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	13806283	117297439	131953182	5	8640											
CD2	914	genome.wustl.edu	37	1	117311264	117311264	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:117311264G>C	ENST00000369478.3	+	5	1023	c.915G>C	c.(913-915)caG>caC	p.Q305H		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	305	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCGTGTTCAGCACCAGCCTC	0.622																																					NSCLC(14;263 555 26380 43512 51332)											0			1											90	78	82					1																	117311264		2203	4300	6503	117112787	SO:0001583	missense	914			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.915G>C	1.37:g.117311264G>C	ENSP00000358490:p.Gln305His		117112787	Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	CCDS889.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670177	0.47677	.	.	ENSG00000116824	ENST00000369478	T	0.49139	0.79	5.25	3.36	0.38483	.	0.281535	0.29631	N	0.011618	T	0.46328	0.1387	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.43393	-0.9394	10	0.31617	T	0.26	-9.247	6.7794	0.23638	0.0887:0.0:0.7373:0.174	.	305	P06729	CD2_HUMAN	H	305	ENSP00000358490:Q305H	ENSP00000358490:Q305H	Q	+	3	2	CD2	117112787	1.000000	0.71417	0.929000	0.37066	0.373000	0.29922	1.281000	0.33214	0.887000	0.36136	0.655000	0.94253	CAG		0.622	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		C	117311264	G	C	117311264	3	2	155	1	0	0	0	0	1	0	0	0	2979	962	34	3	933	3	CD2	1	117311264	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	13825	117311264	131939357	6	8641											
IGSF9	57549	genome.wustl.edu	37	1	159902334	159902334	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:159902334C>T	ENST00000368094.1	-	10	1410	c.1213G>A	c.(1213-1215)Ggg>Agg	p.G405R	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.G389R	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	405	Ig-like 4.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAGAGGGCCCGGCGGTACCA	0.647																																																0			1											59	58	59					1																	159902334		2203	4300	6503	158168958	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1213G>A	1.37:g.159902334C>T	ENSP00000357073:p.Gly405Arg		158168958		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231363	0.79688	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.66099	-0.19;-0.06	4.7	4.7	0.59300	Immunoglobulin-like (1);	0.000000	0.36482	N	0.002573	T	0.74959	0.3785	M	0.80508	2.5	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77830	-0.2442	9	.	.	.	-15.2083	15.1302	0.72517	0.0:1.0:0.0:0.0	.	405;405	Q9P2J2;C9JI81	TUTLA_HUMAN;.	R	389;405;405	ENSP00000355049:G389R;ENSP00000357073:G405R	.	G	-	1	0	IGSF9	158168958	1.000000	0.71417	0.936000	0.37596	0.708000	0.40852	6.710000	0.74670	2.154000	0.67381	0.561000	0.74099	GGG		0.647	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		T	159902334	C	T	159902334	3	4	155	1	0	0	0	0	1	0	0	0	7605	652	23	1	2374	1	IGSF9	1	159902334	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	42591070	159902334	89348287	7	8642											
ATP1A2	477	genome.wustl.edu	37	1	160100344	160100344	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:160100344C>A	ENST00000361216.3	+	13	1873	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A595D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	595					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCCCGGGCTGCTGTGCCAGAT	0.572																																																0			1											68	68	68					1																	160100344		2203	4300	6503	158366968	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1784C>A	1.37:g.160100344C>A	ENSP00000354490:p.Ala595Asp		158366968	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966913|3.966913	0.74131|0.74131	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.95518|.	-3.73;-3.73|.	4.6|4.6	4.6|4.6	0.57074|0.57074	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35364|0.35364	0.0929|0.0929	N|N	0.13299|0.13299	0.325|0.325	0.80722|0.80722	D|D	1|1	D;D;D|.	0.58268|.	0.964;0.982;0.964|.	D;D;D|.	0.63488|.	0.915;0.911;0.915|.	T|T	0.29822|0.29822	-0.9999|-0.9999	10|5	0.87932|.	D|.	0|.	.|.	16.5445|16.5445	0.84426|0.84426	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	595;495;595|.	B1AKY9;F5GXJ7;P50993|.	.;.;AT1A2_HUMAN|.	D|M	595;595;298|306	ENSP00000354490:A595D;ENSP00000376066:A595D|.	ENSP00000354490:A595D|.	A|L	+|+	2|1	0|2	ATP1A2|ATP1A2	158366968|158366968	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	7.755000|7.755000	0.85180|0.85180	2.279000|2.279000	0.76181|0.76181	0.505000|0.505000	0.49811|0.49811	GCT|CTG		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		A	160100344	C	A	160100344	3	1	155	1	0	0	0	0	1	0	0	0	1129	797	28	3	1834	3	ATP1A2	1	160100344	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	198010	160100344	89150277	8	8643											
SERTAD4	56256	genome.wustl.edu	37	1	210415499	210415499	+	Silent	SNP	C	C	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:210415499C>G	ENST00000367012.3	+	4	1118	c.888C>G	c.(886-888)ccC>ccG	p.P296P	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	296						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		ATGGTGGCCCCCTCAGCCACG	0.393																																																0			1											68	65	66					1																	210415499		2203	4300	6503	208482122	SO:0001819	synonymous_variant	56256			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.888C>G	1.37:g.210415499C>G			208482122	B2RD32	Silent	SNP	ENST00000367012.3	37	CCDS1494.1																																																																																				0.393	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		G	210415499	C	G	210415499	2	3	155	1	0	0	0	0	0	0	0	1	14126	610	22	3		3	SERTAD4	1	210415499	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09	50315155	210415499	38835122	9	8644											
EPRS	2058	genome.wustl.edu	37	1	220198487	220198487	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr1:220198487T>C	ENST00000366923.3	-	7	1006	c.737A>G	c.(736-738)gAa>gGa	p.E246G		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	246	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CTCAAAATCTTCCTTTTCTTT	0.358																																																0			1											127	116	120					1																	220198487		2203	4300	6503	218265110	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.737A>G	1.37:g.220198487T>C	ENSP00000355890:p.Glu246Gly		218265110	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.071989	0.76415	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23754	1.89	5.63	5.63	0.86233	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	M	0.65320	2	0.80722	D	1	B;B;P	0.36837	0.123;0.197;0.571	B;B;B	0.37198	0.139;0.119;0.243	T	0.03852	-1.0998	10	0.30854	T	0.27	-37.4632	16.1413	0.81528	0.0:0.0:0.0:1.0	.	246;246;246	F5H7I7;Q3KQZ8;P07814	.;.;SYEP_HUMAN	G	246	ENSP00000355890:E246G	ENSP00000355890:E246G	E	-	2	0	EPRS	218265110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.782000	0.85680	2.270000	0.75569	0.482000	0.46254	GAA		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		C	220198487	T	C	220198487	3	2	155	1	0	0	0	0	1	0	0	0	5191	1783	62	4	3905	4	EPRS	1	220198487	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	9782988	220198487	29052134	10	8645											
RAB10	10890	genome.wustl.edu	37	2	26332666	26332666	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr2:26332666C>G	ENST00000264710.4	+	3	717	c.218C>G	c.(217-219)aCc>aGc	p.T73S	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	73					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGATTTCACACCATCACAACC	0.373																																																0			2											98	90	93					2																	26332666		2203	4300	6503	26186170	SO:0001583	missense	10890			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.218C>G	2.37:g.26332666C>G	ENSP00000264710:p.Thr73Ser		26186170	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041973	0.93685	.	.	ENSG00000084733	ENST00000264710	T	0.75704	-0.96	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	N	0.02697	-0.525	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	T	0.81792	-0.0770	10	0.87932	D	0	.	17.9567	0.89072	0.0:1.0:0.0:0.0	.	73	P61026	RAB10_HUMAN	S	73	ENSP00000264710:T73S	ENSP00000264710:T73S	T	+	2	0	RAB10	26186170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.588000	0.87417	0.585000	0.79938	ACC		0.373	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		G	26332666	C	G	26332666	3	3	155	1	0	0	0	0	1	0	0	0	12893	507	18	3	228	3	RAB10	2	26332666	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09		26332666	216866707	11	8646											
GCKR	2646	genome.wustl.edu	37	2	27729423	27729423	+	Silent	SNP	C	C	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr2:27729423C>G	ENST00000264717.2	+	11	1008	c.945C>G	c.(943-945)acC>acG	p.T315T	GCKR_ENST00000424318.2_Silent_p.T125T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	315					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGATTGCCACCCTGATGAAGA	0.527																																																0			2											97	95	95					2																	27729423		2203	4300	6503	27582927	SO:0001819	synonymous_variant	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.945C>G	2.37:g.27729423C>G			27582927	A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	0.257	-1.002227	0.02128	.	.	ENSG00000084734	ENST00000411584	.	.	.	4.66	1.71	0.24356	.	.	.	.	.	T	0.51907	0.1702	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41233	-0.9520	4	.	.	.	-0.7956	5.2574	0.15553	0.1634:0.6517:0.0:0.1849	.	.	.	.	R	16	.	.	P	+	2	0	GCKR	27582927	0.001000	0.12720	0.939000	0.37840	0.018000	0.09664	-1.290000	0.02777	0.568000	0.29311	0.563000	0.77884	CCC		0.527	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		G	27729423	C	G	27729423	2	3	155	1	0	0	0	0	0	0	0	1	6294	610	22	3		3	GCKR	2	27729423	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09	1396757	27729423	215469950	12	8647											
DCTN1	1639	genome.wustl.edu	37	2	74590286	74590286	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr2:74590286A>T	ENST00000361874.3	-	29	3681	c.3364T>A	c.(3364-3366)Tcc>Acc	p.S1122T	DCTN1_ENST00000409567.3_Missense_Mutation_p.S1097T|DCTN1_ENST00000394003.3_Missense_Mutation_p.S1115T|DCTN1_ENST00000409868.1_Missense_Mutation_p.S1100T|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409240.1_Missense_Mutation_p.S1080T|DCTN1_ENST00000407639.2_Missense_Mutation_p.S988T|RP11-287D1.3_ENST00000451608.2_Missense_Mutation_p.S35T|DCTN1_ENST00000409438.1_Missense_Mutation_p.S983T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1122					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GATGCCAAGGATGCCTTCATC	0.537																																																0			2											67	63	64					2																	74590286		2203	4300	6503	74443794	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3364T>A	2.37:g.74590286A>T	ENSP00000354791:p.Ser1122Thr		74443794	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.092884	0.36952	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77229	-0.68;-0.87;-0.68;-0.67;-1.08;-0.86;-0.86	4.96	2.47	0.30058	.	0.175329	0.27673	N	0.018327	T	0.59742	0.2216	N	0.19112	0.55	0.28004	N	0.935186	B;B;B;B;B;B;B	0.21381	0.001;0.001;0.002;0.0;0.055;0.003;0.014	B;B;B;B;B;B;B	0.17722	0.0;0.001;0.003;0.001;0.019;0.006;0.013	T	0.43893	-0.9363	10	0.14656	T	0.56	-1.3303	11.3475	0.49569	0.4495:0.5505:0.0:0.0	.	1097;1080;1122;1115;988;983;1105	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	T	1122;1115;1105;988;983;1080;1100;1097	ENSP00000354791:S1122T;ENSP00000377571:S1115T;ENSP00000384844:S988T;ENSP00000387270:S983T;ENSP00000386406:S1080T;ENSP00000387327:S1100T;ENSP00000386843:S1097T	ENSP00000354791:S1122T	S	-	1	0	DCTN1	74443794	0.997000	0.39634	0.998000	0.56505	0.996000	0.88848	3.217000	0.51184	0.864000	0.35578	0.460000	0.39030	TCC		0.537	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		T	74590286	A	T	74590286	3	4	155	1	0	0	0	0	1	0	0	0	4306	333	12	5	488	5	DCTN1	2	74590286	Missense_Mutation	SNP	A	TCGA-13-2061-01A-01D-1526-09	46860863	74590286	168609087	13	8648											
TCF7L1	83439	genome.wustl.edu	37	2	85360992	85360992	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr2:85360992T>A	ENST00000282111.3	+	1	460	c.185T>A	c.(184-186)cTa>cAa	p.L62Q		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	62	CTNNB1-binding. {ECO:0000250}.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CAGCGGGACCTAGACGAGGTC	0.692																																																0			2											20	19	19					2																	85360992		2173	4248	6421	85214503	SO:0001583	missense	83439			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.185T>A	2.37:g.85360992T>A	ENSP00000282111:p.Leu62Gln		85214503	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372799	0.82573	.	.	ENSG00000152284	ENST00000282111	D	0.99769	-6.7	3.92	3.92	0.45320	CTNNB1 binding, N-teminal (1);	0.113912	0.37669	N	0.001994	D	0.99718	0.9891	M	0.86864	2.845	0.44652	D	0.997634	D	0.89917	1.0	D	0.91635	0.999	D	0.97603	1.0124	10	0.87932	D	0	.	10.9891	0.47539	0.0:0.0:0.0:1.0	.	62	Q9HCS4	TF7L1_HUMAN	Q	62	ENSP00000282111:L62Q	ENSP00000282111:L62Q	L	+	2	0	TCF7L1	85214503	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.888000	0.75622	1.532000	0.49169	0.460000	0.39030	CTA		0.692	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		A	85360992	T	A	85360992	3	1	155	1	0	0	0	0	1	0	0	0	15697	1522	53	5	187	5	TCF7L1	2	85360992	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	10770706	85360992	157838381	14	8649											
G6PC2	57818	genome.wustl.edu	37	2	169763226	169763226	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr2:169763226T>C	ENST00000375363.3	+	4	585	c.493T>C	c.(493-495)Tgc>Cgc	p.C165R	G6PC2_ENST00000461586.1_Intron|G6PC2_ENST00000429379.2_Intron|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	165					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AATCAGTGTCTGCATCTCCAG	0.368																																																0			2											221	203	209					2																	169763226		2203	4300	6503	169471472	SO:0001583	missense	57818			AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"islet specific glucose 6 phosphatase catalytic subunit related protein"	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.493T>C	2.37:g.169763226T>C	ENSP00000364512:p.Cys165Arg		169471472	E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657325	0.67586	.	.	ENSG00000152254	ENST00000375363	T	0.75154	-0.91	5.9	5.9	0.94986	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.064020	0.64402	D	0.000006	D	0.86443	0.5934	M	0.80746	2.51	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.87452	0.2402	10	0.54805	T	0.06	-0.1757	16.3538	0.83227	0.0:0.0:0.0:1.0	.	165	Q9NQR9	G6PC2_HUMAN	R	165	ENSP00000364512:C165R	ENSP00000364512:C165R	C	+	1	0	G6PC2	169471472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.724000	0.61972	2.254000	0.74563	0.524000	0.50904	TGC		0.368	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		C	169763226	T	C	169763226	3	2	155	1	0	0	0	0	1	0	0	0	6144	1580	55	4	507	4	G6PC2	2	169763226	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	84402234	169763226	73436147	15	8650											
CASP8	841	genome.wustl.edu	37	2	202131492	202131492	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr2:202131492A>T	ENST00000432109.2	+	3	472	c.283A>T	c.(283-285)Agg>Tgg	p.R95W	CASP8_ENST00000358485.4_Missense_Mutation_p.R154W|CASP8_ENST00000323492.7_Missense_Mutation_p.R95W|CASP8_ENST00000264274.9_Missense_Mutation_p.R95W|CASP8_ENST00000392259.2_Missense_Mutation_p.R95W|CASP8_ENST00000392266.3_Missense_Mutation_p.R95W|CASP8_ENST00000392258.3_Missense_Mutation_p.R95W|CASP8_ENST00000264275.5_Missense_Mutation_p.R95W	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	95					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GACACCAGGCAGGGCTCAAAT	0.488										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)											0			2											47	45	46					2																	202131492		2203	4300	6503	201839737	SO:0001583	missense	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.283A>T	2.37:g.202131492A>T	ENSP00000412523:p.Arg95Trp		201839737	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118592	0.56505	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.58	5.58	0.84498	DEATH-like (2);	1.151220	0.06204	N	0.683833	D	0.91566	0.7336	M	0.79258	2.445	0.25754	N	0.985022	D;D;D;D;D;P;D;D;D	0.76494	0.975;0.97;0.998;0.992;0.996;0.946;0.983;0.992;0.999	P;P;D;P;D;P;P;D;D	0.66979	0.688;0.685;0.925;0.888;0.925;0.741;0.908;0.925;0.948	T	0.79257	-0.1878	10	0.66056	D	0.02	.	13.4804	0.61332	1.0:0.0:0.0:0.0	.	95;95;95;95;154;95;95;95;95	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	W	95;95;95;95;95;95;95;95;95;154;95;95;95;95	ENSP00000376091:R95W;ENSP00000264274:R95W;ENSP00000376088:R95W;ENSP00000376094:R95W;ENSP00000412523:R95W;ENSP00000264275:R95W;ENSP00000396869:R95W;ENSP00000376087:R95W;ENSP00000388306:R95W;ENSP00000351273:R154W;ENSP00000397528:R95W;ENSP00000325722:R95W;ENSP00000390641:R95W	ENSP00000264274:R95W	R	+	1	2	CASP8	201839737	0.572000	0.26668	0.919000	0.36401	0.064000	0.16182	2.763000	0.47605	2.111000	0.64477	0.459000	0.35465	AGG		0.488	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		T	202131492	A	T	202131492	3	4	155	1	0	0	0	0	1	0	0	0	2677	179	7	5	466	5	CASP8	2	202131492	Missense_Mutation	SNP	A	TCGA-13-2061-01A-01D-1526-09	32368266	202131492	41067881	16	8651											
CPS1	1373	genome.wustl.edu	37	2	211464238	211464238	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr2:211464238C>T	ENST00000233072.5	+	14	1698	c.1502C>T	c.(1501-1503)cCa>cTa	p.P501L	CPS1_ENST00000451903.2_Missense_Mutation_p.P50L|CPS1_ENST00000430249.2_Missense_Mutation_p.P507L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	501					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCAGAACAGCCAGATGGGTTA	0.473																																																0			2											132	131	131					2																	211464238		2203	4300	6503	211172483	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1502C>T	2.37:g.211464238C>T	ENSP00000233072:p.Pro501Leu		211172483	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519253	0.85495	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125;ENST00000451903	D;D;D	0.95821	-3.82;-3.82;-3.82	5.17	5.17	0.71159	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.050207	0.85682	D	0.000000	D	0.98516	0.9505	H	0.96208	3.785	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69654	0.965;0.965	D	0.99605	1.0979	10	0.87932	D	0	-7.135	19.03	0.92952	0.0:1.0:0.0:0.0	.	511;501	Q59HF8;P31327	.;CPSM_HUMAN	L	507;509;501;501;50	ENSP00000402608:P507L;ENSP00000233072:P501L;ENSP00000406136:P50L	ENSP00000233072:P501L	P	+	2	0	CPS1	211172483	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	7.358000	0.79466	2.579000	0.87056	0.455000	0.32223	CCA		0.473	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			T	211464238	C	T	211464238	3	4	155	1	0	0	0	0	1	0	0	0	3823	594	21	2	1578	2	CPS1	2	211464238	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	9332746	211464238	31735135	17	8652											
UGT1A4	54657	genome.wustl.edu	37	2	234627911	234627911	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr2:234627911G>A	ENST00000373409.3	+	1	488	c.445G>A	c.(445-447)Gtt>Att	p.V149I	UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	149					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CTTTGATGTGGTTTTAACAGA	0.458																																					Melanoma(99;1011 1962 13201 26492)											0			2											201	200	200					2																	234627911		2203	4300	6503	234292650	SO:0001583	missense	54657			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.445G>A	2.37:g.234627911G>A	ENSP00000362508:p.Val149Ile		234292650	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	G	4.268	0.048892	0.08243	.	.	ENSG00000244474	ENST00000373409	T	0.62232	0.04	4.31	-0.0339	0.13898	.	.	.	.	.	T	0.66096	0.2755	L	0.59912	1.85	0.09310	N	1	P;B	0.49090	0.919;0.039	P;B	0.56514	0.8;0.173	T	0.56637	-0.7946	9	0.25751	T	0.34	.	8.7855	0.34818	0.143:0.4753:0.3816:0.0	.	149;149	B8K288;P22310	.;UD14_HUMAN	I	149	ENSP00000362508:V149I	ENSP00000362508:V149I	V	+	1	0	UGT1A4	234292650	0.000000	0.05858	0.023000	0.16930	0.002000	0.02628	-0.635000	0.05471	-0.397000	0.07691	0.491000	0.48974	GTT		0.458	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		A	234627911	G	A	234627911	3	1	155	1	0	0	0	0	1	0	0	0	16947	1261	44	2	447	2	UGT1A4	2	234627911	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	23163673	234627911	8571462	18	8653											
PHF7	51533	genome.wustl.edu	37	3	52456307	52456307	+	Silent	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr3:52456307C>A	ENST00000327906.3	+	9	1410	c.750C>A	c.(748-750)gcC>gcA	p.A250A	PHF7_ENST00000347025.2_Intron	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	250						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACTGTGATGCCCCCATCTGTC	0.493																																																0			3											91	87	88					3																	52456307		2203	4300	6503	52431347	SO:0001819	synonymous_variant	51533			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.750C>A	3.37:g.52456307C>A			52431347	K4DI82	Silent	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291707	0.23564	.	.	ENSG00000010318	ENST00000461861	.	.	.	5.75	2.62	0.31277	.	.	.	.	.	T	0.53997	0.1831	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46679	-0.9174	4	.	.	.	0.0	5.6703	0.17719	0.0:0.6314:0.0:0.3686	.	.	.	.	H	210	.	.	P	+	2	0	PHF7	52431347	0.927000	0.31430	1.000000	0.80357	0.994000	0.84299	0.647000	0.24812	0.790000	0.33803	0.655000	0.94253	CCC		0.493	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		A	52456307	C	A	52456307	2	1	155	1	0	0	0	0	0	0	0	1	11839	610	22	3		3	PHF7	3	52456307	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09		52456307	145566123	19	8654											
GTPBP8	29083	genome.wustl.edu	37	3	112710060	112710060	+	Missense_Mutation	SNP	G	G	C	rs549530387		TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr3:112710060G>C	ENST00000383678.2	+	1	296	c.214G>C	c.(214-216)Gac>Cac	p.D72H	GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000383677.3_Missense_Mutation_p.D72H|RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000473129.1_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	72					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GCGTATCTTTGACCCAAGCCC	0.622																																																0			3											50	49	49					3																	112710060		2203	4300	6503	114192750	SO:0001583	missense	29083			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.214G>C	3.37:g.112710060G>C	ENSP00000373176:p.Asp72His		114192750	A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798108	0.31777	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.48836	0.88;0.8	5.65	1.89	0.25635	.	0.432637	0.28448	N	0.015302	T	0.30727	0.0774	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.002	T	0.05338	-1.0891	10	0.34782	T	0.22	-12.3601	6.3947	0.21605	0.2072:0.2473:0.5455:0.0	.	72;72	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	H	72	ENSP00000373176:D72H;ENSP00000373175:D72H	ENSP00000295864:D72H	D	+	1	0	GTPBP8	114192750	0.856000	0.29760	0.983000	0.44433	0.014000	0.08584	0.478000	0.22212	0.172000	0.19760	-0.137000	0.14449	GAC		0.622	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		C	112710060	G	C	112710060	3	2	155	1	0	0	0	0	1	0	0	0	6884	1290	45	3	216	3	GTPBP8	3	112710060	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	60253753	112710060	85312370	20	8655											
ITGB5	3693	genome.wustl.edu	37	3	124578105	124578105	+	Silent	SNP	G	G	C	rs547511798		TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr3:124578105G>C	ENST00000296181.4	-	3	641	c.345C>G	c.(343-345)gcC>gcG	p.A115A		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	115					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GGAGGTTCACGGCAATCTCCT	0.597																																																0			3											67	70	69					3																	124578105		2203	4300	6503	126060795	SO:0001819	synonymous_variant	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.345C>G	3.37:g.124578105G>C			126060795	B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	CCDS3030.1																																																																																				0.597	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		C	124578105	G	C	124578105	2	2	155	1	0	0	0	0	0	0	0	1	7898	1103	39	3		3	ITGB5	3	124578105	Silent	SNP	G	TCGA-13-2061-01A-01D-1526-09	11868045	124578105	73444325	21	8656											
TNFSF10	8743	genome.wustl.edu	37	3	172224521	172224521	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr3:172224521C>T	ENST00000241261.2	-	5	729	c.607G>A	c.(607-609)Gac>Aac	p.D203N	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	203					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATTTGTTTGTCGTTCTTTGTG	0.343																																																0			3											259	248	252					3																	172224521		2203	4300	6503	173707215	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.607G>A	3.37:g.172224521C>T	ENSP00000241261:p.Asp203Asn		173707215	A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.764157	0.00651	.	.	ENSG00000121858	ENST00000241261	D	0.94330	-3.4	5.64	1.78	0.24846	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.954014	0.08852	N	0.884361	T	0.74291	0.3697	N	0.01134	-0.995	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67369	-0.5688	10	0.07325	T	0.83	-5.0114	1.7822	0.03034	0.1117:0.2417:0.1645:0.4822	.	203	P50591	TNF10_HUMAN	N	203	ENSP00000241261:D203N	ENSP00000241261:D203N	D	-	1	0	TNFSF10	173707215	0.063000	0.20901	0.011000	0.14972	0.131000	0.20780	0.698000	0.25571	0.509000	0.28195	-0.469000	0.05056	GAC		0.343	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			T	172224521	C	T	172224521	3	4	155	1	0	0	0	0	1	0	0	0	16301	884	31	1	242	1	TNFSF10	3	172224521	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	47646416	172224521	25797909	22	8657											
LRRC33	375387	genome.wustl.edu	37	3	196388482	196388482	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr3:196388482C>G	ENST00000328557.4	+	3	2171	c.1968C>G	c.(1966-1968)atC>atG	p.I656M		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	656					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCGTGCTCATCCTCCCCAGCT	0.622																																																0			3											92	97	95					3																	196388482		2203	4300	6503	197872879	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1968C>G	3.37:g.196388482C>G	ENSP00000328625:p.Ile656Met		197872879		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715892	0.30413	.	.	ENSG00000174004	ENST00000328557	T	0.50277	0.75	5.67	-9.2	0.00682	.	0.246100	0.41500	D	0.000869	T	0.33527	0.0866	L	0.51422	1.61	0.49130	D	0.999758	P	0.37864	0.61	B	0.34180	0.177	T	0.44498	-0.9324	10	0.36615	T	0.2	.	16.9257	0.86175	0.0876:0.6444:0.0:0.268	.	656	Q86YC3	LRC33_HUMAN	M	656	ENSP00000328625:I656M	ENSP00000328625:I656M	I	+	3	3	LRRC33	197872879	0.001000	0.12720	0.165000	0.22776	0.946000	0.59487	-1.668000	0.01959	-1.884000	0.01119	-0.302000	0.09304	ATC		0.622	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		G	196388482	C	G	196388482	3	3	155	1	0	0	0	0	1	0	0	0	8988	845	30	3	1974	3	LRRC33	3	196388482	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	24163961	196388482	1633948	23	8658											
PIGG	54872	genome.wustl.edu	37	4	515720	515720	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr4:515720C>A	ENST00000453061.2	+	8	1710	c.1604C>A	c.(1603-1605)aCc>aAc	p.T535N	PIGG_ENST00000509768.1_Missense_Mutation_p.T446N|PIGG_ENST00000504346.1_Missense_Mutation_p.T446N|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.T402N|PIGG_ENST00000310340.5_Missense_Mutation_p.T527N|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000503111.1_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	535					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GGTGGAAACACCCCAAGGAAG	0.572																																																0			4											91	74	80					4																	515720		2203	4300	6503	505720	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1604C>A	4.37:g.515720C>A	ENSP00000415203:p.Thr535Asn		505720	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	C	7.898	0.733710	0.15574	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000509768	T;T;T;T;T	0.30714	3.29;3.28;2.95;2.94;1.52	5.07	-2.36	0.06663	.	1.403040	0.04096	N	0.312046	T	0.12475	0.0303	N	0.08118	0	0.09310	N	1	B;B;B;B	0.16396	0.001;0.017;0.0;0.001	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.13818	-1.0495	10	0.16896	T	0.51	.	1.6787	0.02827	0.1174:0.2527:0.3163:0.3136	.	402;446;535;527	Q5H8A4-3;D6RFE8;Q5H8A4;Q5H8A4-2	.;.;PIGG_HUMAN;.	N	527;535;446;402;446	ENSP00000311750:T527N;ENSP00000415203:T535N;ENSP00000424800:T446N;ENSP00000372494:T402N;ENSP00000421550:T446N	ENSP00000311750:T527N	T	+	2	0	PIGG	505720	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.436000	0.21526	-0.270000	0.09285	-0.367000	0.07326	ACC		0.572	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		A	515720	C	A	515720	3	1	155	1	0	0	0	0	1	0	0	0	11888	507	18	3	1634	3	PIGG	4	515720	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09		515720	190638556	24	8659											
MIER3	166968	genome.wustl.edu	37	5	56233470	56233470	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr5:56233470G>C	ENST00000381199.3	-	5	381	c.371C>G	c.(370-372)gCg>gGg	p.A124G	MIER3_ENST00000381226.3_Missense_Mutation_p.A129G|MIER3_ENST00000409421.1_Missense_Mutation_p.A61G|MIER3_ENST00000381213.3_Missense_Mutation_p.A124G			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CAGATCATCCGCAGAAGACTG	0.423																																																0			5											123	110	115					5																	56233470		2203	4300	6503	56269227	SO:0001583	missense	166968			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.371C>G	5.37:g.56233470G>C	ENSP00000370596:p.Ala124Gly		56269227	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	G	22.7	4.325190	0.81580	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421;ENST00000336942	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.998	T	0.38520	-0.9657	10	0.16420	T	0.52	-9.9882	20.6593	0.99626	0.0:0.0:1.0:0.0	.	124;129;124	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	G	129;124;124;61;97	ENSP00000370624:A129G;ENSP00000370611:A124G;ENSP00000370596:A124G;ENSP00000386584:A61G;ENSP00000337027:A97G	ENSP00000337027:A97G	A	-	2	0	MIER3	56269227	1.000000	0.71417	0.860000	0.33809	0.966000	0.64601	9.837000	0.99465	2.885000	0.99019	0.655000	0.94253	GCG		0.423	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		C	56233470	G	C	56233470	3	2	155	1	0	0	0	0	1	0	0	0	9582	1087	38	3	1314	3	MIER3	5	56233470	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09		56233470	124681790	25	8660											
DOCK2	1794	genome.wustl.edu	37	5	169129351	169129351	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr5:169129351T>G	ENST00000256935.8	+	14	1383	c.1303T>G	c.(1303-1305)Ttt>Gtt	p.F435V	DOCK2_ENST00000520908.1_5'Flank|DOCK2_ENST00000540750.1_5'Flank	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	435	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAAGGTGACTTTGACAAGTA	0.502											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			5											181	148	159					5																	169129351		2203	4300	6503	169061929	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1303T>G	5.37:g.169129351T>G	ENSP00000256935:p.Phe435Val	1875	169061929	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.696385	0.88830	.	.	ENSG00000134516	ENST00000256935	T	0.16457	2.34	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.90019	3.08	0.80722	D	1	P	0.39576	0.679	P	0.45538	0.484	T	0.24621	-1.0155	10	0.46703	T	0.11	.	10.8147	0.46569	0.0:0.0732:0.0:0.9268	.	435	Q92608	DOCK2_HUMAN	V	435	ENSP00000256935:F435V	ENSP00000256935:F435V	F	+	1	0	DOCK2	169061929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.243000	0.72384	2.099000	0.63709	0.533000	0.62120	TTT		0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		G	169129351	T	G	169129351	3	3	155	1	0	0	0	0	1	0	0	0	4687	1609	56	5	1357	5	DOCK2	5	169129351	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	112895881	169129351	11785909	26	8661											
B4GALT7	11285	genome.wustl.edu	37	5	177031200	177031200	+	Missense_Mutation	SNP	G	G	C	rs565183548		TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr5:177031200G>C	ENST00000029410.5	+	2	182	c.71G>C	c.(70-72)gGc>gCc	p.G24A		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	24					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			CTCTCCGGCGGCCTCCCTCGG	0.677																																																0			5											33	29	30					5																	177031200		2201	4295	6496	176963806	SO:0001583	missense	11285			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.71G>C	5.37:g.177031200G>C	ENSP00000029410:p.Gly24Ala		176963806	B3KN39|Q9UHN2	Missense_Mutation	SNP	ENST00000029410.5	37	CCDS4429.1	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345203	0.05208	.	.	ENSG00000027847	ENST00000029410	T	0.68903	-0.36	4.23	3.26	0.37387	.	0.591461	0.17698	N	0.165030	T	0.45895	0.1365	N	0.22421	0.69	0.23798	N	0.996813	B	0.16603	0.018	B	0.09377	0.004	T	0.15492	-1.0435	10	0.12103	T	0.63	-16.8285	8.7791	0.34781	0.0:0.0:0.654:0.346	.	24	Q9UBV7	B4GT7_HUMAN	A	24	ENSP00000029410:G24A	ENSP00000029410:G24A	G	+	2	0	B4GALT7	176963806	0.991000	0.36638	0.916000	0.36221	0.071000	0.16799	2.418000	0.44662	2.285000	0.76669	0.549000	0.68633	GGC		0.677	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		C	177031200	G	C	177031200	3	2	155	1	0	0	0	0	1	0	0	0	1276	1203	42	3	77	3	B4GALT7	5	177031200	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	7901849	177031200	3884060	27	8662											
SIRT5	23408	genome.wustl.edu	37	6	13601090	13601090	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr6:13601090C>G	ENST00000606117.1	+	9	1062	c.766C>G	c.(766-768)Cca>Gca	p.P256A	SIRT5_ENST00000379262.4_Missense_Mutation_p.P256A|SIRT5_ENST00000397350.2_Missense_Mutation_p.P148A|SIRT5_ENST00000359782.3_Missense_Mutation_p.P238A	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGTGGTGTACCCAGCAGCCAT	0.532																																																0			6											67	55	59					6																	13601090		2203	4300	6503	13709069	SO:0001583	missense	23408			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.766C>G	6.37:g.13601090C>G	ENSP00000476228:p.Pro256Ala		13709069		Missense_Mutation	SNP	ENST00000606117.1	37	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895903	0.91962	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000397350;ENST00000379250	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.81418	0.4818	H	0.97240	3.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.88033	0.2776	10	0.87932	D	0	-21.4724	19.1343	0.93420	0.0:1.0:0.0:0.0	.	238;256;256	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	A	238;256;148;256	ENSP00000352830:P238A;ENSP00000368564:P256A;ENSP00000380509:P148A;ENSP00000368552:P256A	ENSP00000352830:P238A	P	+	1	0	SIRT5	13709069	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.290000	0.78711	2.584000	0.87258	0.591000	0.81541	CCA		0.532	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			G	13601090	C	G	13601090	3	3	155	1	0	0	0	0	1	0	0	0	14344	623	22	3	792	3	SIRT5	6	13601090	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09		13601090	157513977	28	8663											
NRSN1	140767	genome.wustl.edu	37	6	24145907	24145907	+	Silent	SNP	G	G	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr6:24145907G>A	ENST00000378491.4	+	4	622	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCTGTCCAGTTTAACAGTG	0.527																																																0			6											104	92	96					6																	24145907		2203	4300	6503	24253886	SO:0001819	synonymous_variant	140767			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.321G>A	6.37:g.24145907G>A			24253886		Silent	SNP	ENST00000378491.4	37	CCDS4549.1																																																																																				0.527	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		A	24145907	G	A	24145907	2	1	155	1	0	0	0	0	0	0	0	1	10662	1020	36	2		2	NRSN1	6	24145907	Silent	SNP	G	TCGA-13-2061-01A-01D-1526-09	10544817	24145907	146969160	29	8664											
HIST1H2BI	8346	genome.wustl.edu	37	6	26273441	26273441	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr6:26273441C>T	ENST00000377733.2	+	1	298	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	80					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CGAGGCTTCCCGCCTGGCGCA	0.597																																																0			6											114	113	113					6																	26273441		2203	4300	6503	26381420	SO:0001583	missense	8346			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"Histones / Replication-dependent"	4756	protein-coding gene	gene with protein product		602807	"H2B histone family, member K", "histone 1, H2bi"	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.238C>T	6.37:g.26273441C>T	ENSP00000366962:p.Arg80Cys		26381420	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.981105	0.34942	.	.	ENSG00000168242	ENST00000377733	T	0.32753	1.44	4.5	4.5	0.54988	.	0.000000	0.42821	U	0.000645	T	0.55000	0.1893	M	0.92367	3.3	0.48040	D	0.999579	.	.	.	.	.	.	T	0.66666	-0.5866	8	0.49607	T	0.09	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	C	80	ENSP00000366962:R80C	ENSP00000366962:R80C	R	+	1	0	HIST1H2BI	26381420	1.000000	0.71417	0.999000	0.59377	0.070000	0.16714	5.756000	0.68757	2.058000	0.61347	0.563000	0.77884	CGC		0.597	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		T	26273441	C	T	26273441	3	4	155	1	0	0	0	0	1	0	0	0	7148	652	23	1	240	1	HIST1H2BI	6	26273441	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	2127534	26273441	144841626	30	8665											
OR10C1	442194	genome.wustl.edu	37	6	29408523	29408523	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr6:29408523T>A	ENST00000444197.2	+	1	1441	c.731T>A	c.(730-732)cTg>cAg	p.L244Q	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTCCCACCTGATCATGGTC	0.587																																																0			6											270	305	293					6																	29408523		1511	2708	4219	29516502	SO:0001583	missense	442194				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.731T>A	6.37:g.29408523T>A	ENSP00000419119:p.Leu244Gln		29516502	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678720	0.68042	.	.	ENSG00000206474	ENST00000444197	T	0.51325	0.71	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31092	N	0.008277	T	0.72078	0.3416	H	0.97131	3.945	0.39846	D	0.973173	D	0.89917	1.0	D	0.97110	1.0	T	0.81508	-0.0901	10	0.87932	D	0	.	11.8793	0.52564	0.0:0.0:0.0:1.0	.	244	Q96KK4	O10C1_HUMAN	Q	244	ENSP00000419119:L244Q	ENSP00000419119:L244Q	L	+	2	0	OR10C1	29516502	0.995000	0.38212	0.872000	0.34217	0.768000	0.43524	6.524000	0.73791	1.465000	0.48006	0.491000	0.48974	CTG		0.587	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			A	29408523	T	A	29408523	3	1	155	1	0	0	0	0	1	0	0	0	10898	1580	55	5	733	5	OR10C1	6	29408523	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	3135082	29408523	141706544	31	8666											
TNXB	1590	genome.wustl.edu	37	6	31979012	31979012	+	RNA	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr6:31979012C>T	ENST00000342991.6	+	0	1971					NR_040090.1				cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene																		CTGAGGTCTCCCTGATTTCAC	0.612																																																0			6											24	26	25					6																	31979012		687	1544	2231	32086990			0			M13935		6p21.33	2011-12-01	2003-01-14		ENSG00000204338	ENSG00000204338		"Cytochrome P450s"	2599	pseudogene	pseudogene			"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase), polypeptide 1 pseudogene"	CYP21P, CYP21A		3487786, 3038528	Standard	NR_040090		Approved	P450c21A	uc021yve.1		OTTHUMG00000031026		6.37:g.31979012C>T			32086990		Silent	SNP	ENST00000342991.6	37																																																																																					0.612	CYP21A1P-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000268795.1			T	31979012	C	T	31979012	1	4	155	0	1	0	0	0	0	0	0	0	16346	622	22	2		2	TNXB	6	31979012	RNA	SNP	C	TCGA-13-2061-01A-01D-1526-09	2570489	31979012	139136055	32	8667											
YIPF3	25844	genome.wustl.edu	37	6	43483701	43483701	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr6:43483701C>A	ENST00000372422.2	-	2	396	c.214G>T	c.(214-216)Gct>Tct	p.A72S	YIPF3_ENST00000506469.1_Missense_Mutation_p.A78S|POLR1C_ENST00000372389.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank|POLR1C_ENST00000304004.3_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	72					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TCCTCTTCAGCAGCAGCTGCA	0.557																																																0			6											94	85	88					6																	43483701		2203	4300	6503	43591679	SO:0001583	missense	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.214G>T	6.37:g.43483701C>A	ENSP00000361499:p.Ala72Ser		43591679	Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	C	5.633	0.301538	0.10678	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972;ENST00000511831	T;T;T	0.43688	0.94;0.94;0.96	0.418	0.418	0.16429	.	0.218722	0.46758	D	0.000267	T	0.09069	0.0224	N	0.22421	0.69	0.27296	N	0.957709	B;B;B	0.28636	0.091;0.187;0.218	B;B;B	0.25291	0.024;0.059;0.04	T	0.26538	-1.0100	9	0.26408	T	0.33	-0.5091	.	.	.	.	72;78;72	D6RED8;E7EQR8;Q9GZM5	.;.;YIPF3_HUMAN	S	72;72;78;72;37	ENSP00000361499:A72S;ENSP00000425494:A78S;ENSP00000421461:A72S	ENSP00000259737:A72S	A	-	1	0	YIPF3	43591679	1.000000	0.71417	0.900000	0.35374	0.982000	0.71751	3.166000	0.50785	0.452000	0.26830	0.460000	0.39030	GCT		0.557	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		A	43483701	C	A	43483701	3	1	155	1	0	0	0	0	1	0	0	0	17479	710	25	3	870	3	YIPF3	6	43483701	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	11504689	43483701	127631366	33	8668											
MDN1	23195	genome.wustl.edu	37	6	90383967	90383967	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr6:90383967G>C	ENST00000369393.3	-	79	13218	c.13103C>G	c.(13102-13104)cCc>cGc	p.P4368R	MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.P4368R|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4368					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAACCAGAGGGCAGCTGACT	0.473																																																0			6											112	100	104					6																	90383967		2203	4300	6503	90440688	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13103C>G	6.37:g.90383967G>C	ENSP00000358400:p.Pro4368Arg		90440688	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375382	0.61735	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03745	3.82;3.82	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00388	-1.1771	10	0.72032	D	0.01	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	4368	Q9NU22	MDN1_HUMAN	R	4368	ENSP00000358400:P4368R;ENSP00000413970:P4368R	ENSP00000358400:P4368R	P	-	2	0	MDN1	90440688	1.000000	0.71417	0.990000	0.47175	0.760000	0.43138	8.270000	0.89880	2.832000	0.97577	0.655000	0.94253	CCC		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90383967	G	C	90383967	3	2	155	1	0	0	0	0	1	0	0	0	9415	1232	43	3	3783	3	MDN1	6	90383967	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	46900266	90383967	80731100	34	8669											
POU3F2	5454	genome.wustl.edu	37	6	99283537	99283537	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr6:99283537A>G	ENST00000328345.5	+	1	958	c.788A>G	c.(787-789)gAc>gGc	p.D263G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	263	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TCGGACGAGGACACGCCGACC	0.716																																																0			6											68	73	71					6																	99283537		2203	4300	6503	99390258	SO:0001583	missense	5454			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.788A>G	6.37:g.99283537A>G	ENSP00000329170:p.Asp263Gly		99390258	Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833160	0.71258	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.84070	-1.8	3.82	3.82	0.43975	POU-specific (3);	0.000000	0.64402	U	0.000002	D	0.85548	0.5722	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87366	0.2347	10	0.87932	D	0	.	11.7175	0.51661	1.0:0.0:0.0:0.0	.	263	P20265	PO3F2_HUMAN	G	263;196	ENSP00000329170:D263G	ENSP00000329170:D263G	D	+	2	0	POU3F2	99390258	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.948000	0.93006	1.594000	0.50039	0.254000	0.18369	GAC		0.716	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			G	99283537	A	G	99283537	3	3	155	1	0	0	0	0	1	0	0	0	12275	275	10	4	790	4	POU3F2	6	99283537	Missense_Mutation	SNP	A	TCGA-13-2061-01A-01D-1526-09	8899570	99283537	71831530	35	8670											
SYNE1	23345	genome.wustl.edu	37	6	152671404	152671404	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr6:152671404C>A	ENST00000367255.5	-	72	12401	c.11800G>T	c.(11800-11802)Gtc>Ttc	p.V3934F	SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3858F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3934F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3934					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACTTTTCGACCTCTTGGAGC	0.527										HNSCC(10;0.0054)																																						0			6											108	99	102					6																	152671404		2203	4300	6503	152713097	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11800G>T	6.37:g.152671404C>A	ENSP00000356224:p.Val3934Phe		152713097	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265567	0.80358	.	.	ENSG00000131018	ENST00000367255;ENST00000265368;ENST00000341594	T;T;T	0.34667	1.35;1.35;1.35	5.75	5.75	0.90469	.	0.253441	0.27567	N	0.018800	T	0.40546	0.1121	L	0.56769	1.78	0.80722	D	1	D;D;D	0.55800	0.973;0.973;0.973	P;P;P	0.53689	0.732;0.732;0.732	T	0.03193	-1.1062	10	0.27082	T	0.32	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	3934;3934;3934	B7ZBC3;Q8NF91;E7EQI5	.;SYNE1_HUMAN;.	F	3934;3934;3858	ENSP00000356224:V3934F;ENSP00000265368:V3934F;ENSP00000341887:V3858F	ENSP00000265368:V3934F	V	-	1	0	SYNE1	152713097	1.000000	0.71417	0.952000	0.39060	0.925000	0.55904	7.466000	0.80914	2.725000	0.93324	0.655000	0.94253	GTC		0.527	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152671404	C	A	152671404	3	1	155	1	0	0	0	0	1	0	0	0	15445	507	18	3	14966	3	SYNE1	6	152671404	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	53387867	152671404	18443663	36	8671											
BBS9	27241	genome.wustl.edu	37	7	33427746	33427746	+	Missense_Mutation	SNP	C	C	A	rs149362446		TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr7:33427746C>A	ENST00000242067.6	+	19	2626	c.2105C>A	c.(2104-2106)aCc>aAc	p.T702N	BBS9_ENST00000350941.3_Missense_Mutation_p.T662N|BBS9_ENST00000355070.2_Missense_Mutation_p.T697N|BBS9_ENST00000354265.4_Missense_Mutation_p.T667N|BBS9_ENST00000396127.2_Missense_Mutation_p.T667N	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	702	Interaction with LZTL1.				cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTAGATGGAACCTACAAGCAG	0.413									Bardet-Biedl syndrome				C|||	1	0.000199681	8e-04	0	5008	,	,		17430	0		0	False		,,,				2504	0															0			7						C	ASN/THR,ASN/THR,ASN/THR,ASN/THR	13,4393	20.2+/-43.8	0,13,2190	104	105	104		2000,2090,1985,2105	5.3	1	7	dbSNP_134	104	0,8600		0,0,4300	yes	missense,missense,missense,missense	BBS9	NM_001033604.1,NM_001033605.1,NM_014451.3,NM_198428.2	65,65,65,65	0,13,6490	AA,AC,CC		0.0,0.2951,0.1	probably-damaging,probably-damaging,probably-damaging,probably-damaging	667/853,697/883,662/848,702/888	33427746	13,12993	2203	4300	6503	33394271	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2105C>A	7.37:g.33427746C>A	ENSP00000242067:p.Thr702Asn		33394271	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.525216|4.525216	0.85600|0.85600	0.002951|0.002951	0.0|0.0	ENSG00000122507|ENSG00000122507	ENST00000434373|ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	.|T;T;T;T;T	.|0.12147	.|2.71;2.71;2.71;2.71;2.71	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.114874	.|0.56097	.|D	.|0.000021	T|T	0.36138|0.36138	0.0956|0.0956	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.79108	.|0.992;0.992;0.992;0.992;0.992	T|T	0.03423|0.03423	-1.1038|-1.1038	5|10	.|0.59425	.|D	.|0.04	-16.9649|-16.9649	17.2483|17.2483	0.87034|0.87034	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|702;662;697;667;702	.|Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.|.;.;.;.;PTHB1_HUMAN	K|N	268|702;662;667;697;667;702	.|ENSP00000242067:T702N;ENSP00000313122:T662N;ENSP00000379433:T667N;ENSP00000347182:T697N;ENSP00000346214:T667N	.|ENSP00000242067:T702N	N|T	+|+	3|2	2|0	BBS9|BBS9	33394271|33394271	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.971000|0.971000	0.66376|0.66376	7.272000|7.272000	0.78516|0.78516	2.496000|2.496000	0.84212|0.84212	0.555000|0.555000	0.69702|0.69702	AAC|ACC		0.413	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			A	33427746	C	A	33427746	3	1	155	1	0	0	0	0	1	0	0	0	1342	507	18	3	2175	3	BBS9	7	33427746	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09		33427746	125710917	37	8672											
DDC	1644	genome.wustl.edu	37	7	50605620	50605620	+	Missense_Mutation	SNP	T	T	A	rs564352252		TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr7:50605620T>A	ENST00000444124.2	-	4	573	c.373A>T	c.(373-375)Atg>Ttg	p.M125L	DDC_ENST00000357936.5_Missense_Mutation_p.M125L|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.M125L|DDC_ENST00000431062.1_Missense_Mutation_p.M125L|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	125	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AGTTCCAGCATCTTCCCGAGC	0.557													T|||	1	0.000199681	8e-04	0	5008	,	,		16408	0		0	False		,,,				2504	0															0			7											92	81	85					7																	50605620		2203	4300	6503	50573114	SO:0001583	missense	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.373A>T	7.37:g.50605620T>A	ENSP00000403644:p.Met125Leu		50573114	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377519	0.61735	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	T;T;T;T	0.34275	1.37;1.63;1.37;1.37	5.62	5.62	0.85841	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	L	0.37630	1.12	0.80722	D	1	B	0.26195	0.144	B	0.19946	0.027	T	0.09952	-1.0651	10	0.87932	D	0	-4.7502	15.8188	0.78624	0.0:0.0:0.0:1.0	.	125	P20711	DDC_HUMAN	L	125	ENSP00000350616:M125L;ENSP00000399184:M125L;ENSP00000403644:M125L;ENSP00000370371:M125L	ENSP00000350616:M125L	M	-	1	0	DDC	50573114	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.230000	0.72301	2.145000	0.66743	0.482000	0.46254	ATG		0.557	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			A	50605620	T	A	50605620	3	1	155	1	0	0	0	0	1	0	0	0	4325	1435	50	5	1113	5	DDC	7	50605620	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	17177874	50605620	108533043	38	8673											
PVRIG	79037	genome.wustl.edu	37	7	99817608	99817608	+	Silent	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr7:99817608C>A	ENST00000317271.2	+	2	438	c.75C>A	c.(73-75)acC>acA	p.T25T	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|AC005071.1_ENST00000410550.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	25						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCACCGGACCCTGGTCCTGC	0.647																																																0			7											26	25	25					7																	99817608		2201	4298	6499	99655544	SO:0001819	synonymous_variant	79037			BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.75C>A	7.37:g.99817608C>A			99655544	D6W5U9|Q9BVK3	Silent	SNP	ENST00000317271.2	37	CCDS5690.1																																																																																				0.647	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2	NM_024070		A	99817608	C	A	99817608	2	1	155	1	0	0	0	0	0	0	0	1	12841	610	22	3		3	PVRIG	7	99817608	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09	49211988	99817608	59321055	39	8674											
LRRC61	65999	genome.wustl.edu	37	7	150034650	150034650	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr7:150034650G>A	ENST00000359623.4	+	3	1288	c.700G>A	c.(700-702)Gac>Aac	p.D234N	LRRC61_ENST00000323078.7_Missense_Mutation_p.D234N|LRRC61_ENST00000493307.1_Missense_Mutation_p.D234N	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	234										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTGGGACCTGGACCGCCAGGC	0.677																																																0			7											14	16	15					7																	150034650		2196	4280	6476	149665583	SO:0001583	missense	65999			BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.700G>A	7.37:g.150034650G>A	ENSP00000352642:p.Asp234Asn		149665583	B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	G	9.306	1.054337	0.19907	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.30448	1.53;1.53;1.53	3.97	2.98	0.34508	.	0.397022	0.24823	U	0.035303	T	0.11367	0.0277	N	0.11560	0.145	0.25325	N	0.989085	B	0.29037	0.231	B	0.19666	0.026	T	0.16928	-1.0386	10	0.13853	T	0.58	-22.3203	4.6528	0.12603	0.2581:0.0:0.7419:0.0	.	234	Q9BV99	LRC61_HUMAN	N	234	ENSP00000339047:D234N;ENSP00000352642:D234N;ENSP00000420560:D234N	ENSP00000339047:D234N	D	+	1	0	LRRC61	149665583	0.997000	0.39634	0.999000	0.59377	0.624000	0.37722	0.806000	0.27126	2.074000	0.62210	0.306000	0.20318	GAC		0.677	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		A	150034650	G	A	150034650	3	1	155	1	0	0	0	0	1	0	0	0	9017	1174	41	2	702	2	LRRC61	7	150034650	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	50217042	150034650	9104013	40	8675											
DECR1	1666	genome.wustl.edu	37	8	91013759	91013759	+	Silent	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr8:91013759C>T	ENST00000220764.2	+	1	127	c.39C>T	c.(37-39)tcC>tcT	p.S13S	DECR1_ENST00000522161.1_5'UTR|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	13					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTCTGGGGTCCCGGCTGCCCT	0.697											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			8											23	25	24					8																	91013759		2203	4300	6503	91082935	SO:0001819	synonymous_variant	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.39C>T	8.37:g.91013759C>T		1279	91082935	B7Z6B8|Q2M304|Q93085	Silent	SNP	ENST00000220764.2	37	CCDS6250.1																																																																																				0.697	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			T	91013759	C	T	91013759	2	4	155	1	0	0	0	0	0	0	0	1	4382	610	22	2		2	DECR1	8	91013759	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09		91013759	55350263	41	8676											
TRAPPC9	83696	genome.wustl.edu	37	8	141461133	141461133	+	Silent	SNP	G	G	T	rs146609080		TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr8:141461133G>T	ENST00000438773.2	-	2	473	c.340C>A	c.(340-342)Cgg>Agg	p.R114R	TRAPPC9_ENST00000389328.4_Silent_p.R212R|TRAPPC9_ENST00000389327.3_Silent_p.R114R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	114					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACAAAGAGCCGGGAGTCATAC	0.587																																																0			8											70	64	66					8																	141461133		2203	4300	6503	141530315	SO:0001819	synonymous_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.340C>A	8.37:g.141461133G>T			141530315	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	CCDS55278.1																																																																																				0.587	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		T	141461133	G	T	141461133	2	4	155	1	0	0	0	0	0	0	0	1	16465	1115	39	3		3	TRAPPC9	8	141461133	Silent	SNP	G	TCGA-13-2061-01A-01D-1526-09	50447374	141461133	4902889	42	8677											
TYRP1	7306	genome.wustl.edu	37	9	12694227	12694227	+	Silent	SNP	T	T	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr9:12694227T>C	ENST00000388918.5	+	2	360	c.231T>C	c.(229-231)ccT>ccC	p.P77P	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	77					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CCCACAGCCCTCAGTATCCCC	0.587									Oculocutaneous Albinism																																							0			9											44	39	41					9																	12694227		2203	4300	6503	12684227	SO:0001819	synonymous_variant	7306	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.231T>C	9.37:g.12694227T>C			12684227	P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	CCDS34990.1																																																																																				0.587	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		C	12694227	T	C	12694227	2	2	155	1	0	0	0	0	0	0	0	1	16816	1538	54	4		4	TYRP1	9	12694227	Silent	SNP	T	TCGA-13-2061-01A-01D-1526-09		12694227	128519204	43	8678											
UBAP2	55833	genome.wustl.edu	37	9	33998843	33998843	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr9:33998843C>G	ENST00000379238.1	-	3	236	c.119G>C	c.(118-120)cGt>cCt	p.R40P	UBAP2_ENST00000449054.1_Missense_Mutation_p.R40P|UBAP2_ENST00000418786.2_Missense_Mutation_p.R40P|UBAP2_ENST00000360802.1_Missense_Mutation_p.R40P|UBAP2_ENST00000539807.1_Missense_Mutation_p.R2P|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000379239.4_5'UTR					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGAGCGAGACGCATCTGTTC	0.348																																																0			9											106	100	102					9																	33998843		2203	4300	6503	33988843	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.119G>C	9.37:g.33998843C>G	ENSP00000368540:p.Arg40Pro		33988843		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316683	0.81469	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000539807;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;2.05;1.47;1.47	6.17	4.35	0.52113	UBA-like (1);	0.046972	0.85682	D	0.000000	T	0.51686	0.1689	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.996;0.999;0.958;0.935;0.998;0.998	T	0.53563	-0.8421	10	0.87932	D	0	-9.6945	12.8758	0.57989	0.0:0.8695:0.0:0.1305	.	40;2;2;2;2;40	E7EWG4;F5H4D5;F5H2U4;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;UBAP2_HUMAN	P	40;40;40;2;2;40;40;40	ENSP00000368540:R40P;ENSP00000416932:R40P;ENSP00000354039:R40P;ENSP00000439329:R2P;ENSP00000404436:R40P;ENSP00000414800:R40P	ENSP00000259602:R40P	R	-	2	0	UBAP2	33988843	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.373000	0.79623	0.942000	0.37525	-0.140000	0.14226	CGT		0.348	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		G	33998843	C	G	33998843	3	3	155	1	0	0	0	0	1	0	0	0	16837	536	19	3	3348	3	UBAP2	9	33998843	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	21304616	33998843	107214588	44	8679											
LAMC3	10319	genome.wustl.edu	37	9	133963009	133963009	+	Splice_Site	SNP	G	G	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr9:133963009G>T	ENST00000361069.4	+	26	4510	c.4377G>T	c.(4375-4377)cgG>cgT	p.R1459R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1459	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AAGCTGAGCGGGTACGTTTGC	0.657																																																0			9											66	72	70					9																	133963009		2203	4300	6503	132952830	SO:0001630	splice_region_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4377+1G>T	9.37:g.133963009G>T			132952830	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	7.107	0.575247	0.13623	.	.	ENSG00000050555	ENST00000355452	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	T	0.64305	0.2586	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62676	-0.6804	4	.	.	.	.	12.8178	0.57675	0.0:0.0:1.0:0.0	.	.	.	.	V	141	.	.	G	+	2	0	LAMC3	132952830	1.000000	0.71417	0.260000	0.24451	0.134000	0.20937	5.266000	0.65525	2.394000	0.81467	0.467000	0.42956	GGG		0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	Silent	T	133963009	G	T	133963009	5	4	155	1	0	0	0	0	0	0	1	0	8616	1246	43	3	4479	3	LAMC3	9	133963009	Splice_Site	SNP	G	TCGA-13-2061-01A-01D-1526-09	99964166	133963009	7250422	45	8680											
GATA3	2625	genome.wustl.edu	37	10	8115877	8115877	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr10:8115877C>A	ENST00000346208.3	+	6	1678	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H	GATA3_ENST00000379328.3_Missense_Mutation_p.P409H|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CACATCTCGCCCTTCAGCCAC	0.612			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0			10											95	87	89					10																	8115877		2203	4300	6503	8155883	SO:0001583	missense	2625			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1223C>A	10.37:g.8115877C>A	ENSP00000341619:p.Pro408His		8155883	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512662	0.64522	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96716	-4.1;-4.08	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	D	0.97167	0.9074	L	0.44542	1.39	0.80722	D	1	B;D	0.89917	0.331;1.0	B;D	0.74348	0.159;0.983	D	0.98039	1.0381	10	0.72032	D	0.01	-24.4691	18.8714	0.92317	0.0:1.0:0.0:0.0	.	408;409	P23771;P23771-2	GATA3_HUMAN;.	H	409;408	ENSP00000368632:P409H;ENSP00000341619:P408H	ENSP00000341619:P408H	P	+	2	0	GATA3	8155883	1.000000	0.71417	0.648000	0.29521	0.995000	0.86356	5.920000	0.70017	2.447000	0.82792	0.462000	0.41574	CCC		0.612	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		A	8115877	C	A	8115877	3	1	155	1	0	0	0	0	1	0	0	0	6255	623	22	3	1244	3	GATA3	10	8115877	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09		8115877	127418870	46	8681											
SLIT1	6585	genome.wustl.edu	37	10	98823972	98823972	+	Silent	SNP	G	G	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr10:98823972G>A	ENST00000266058.4	-	7	827	c.582C>T	c.(580-582)acC>acT	p.T194T	SLIT1_ENST00000371041.3_Silent_p.T194T|SLIT1_ENST00000371070.4_Silent_p.T194T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	194					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGGGGATGGTGGTGATATTGT	0.577																																																0			10											197	148	165					10																	98823972		2203	4300	6503	98813962	SO:0001819	synonymous_variant	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.582C>T	10.37:g.98823972G>A			98813962	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	CCDS7453.1																																																																																				0.577	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		A	98823972	G	A	98823972	2	1	155	1	0	0	0	0	0	0	0	1	14742	1335	47	2		2	SLIT1	10	98823972	Silent	SNP	G	TCGA-13-2061-01A-01D-1526-09	90708095	98823972	36710775	47	8682											
MRGPRX3	117195	genome.wustl.edu	37	11	18158934	18158934	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr11:18158934C>A	ENST00000396275.2	+	3	546	c.185C>A	c.(184-186)tCc>tAc	p.S62Y		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AACGCTGTCTCCATCTACATC	0.587																																																0			11											114	108	110					11																	18158934		2200	4293	6493	18115510	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.185C>A	11.37:g.18158934C>A	ENSP00000379571:p.Ser62Tyr		18115510	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.349978	0.41599	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.30448	1.53;1.53	1.46	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.642983	0.14533	N	0.313740	T	0.57036	0.2026	M	0.89414	3.03	0.23016	N	0.998421	D	0.89917	1.0	D	0.87578	0.998	T	0.40813	-0.9543	10	0.87932	D	0	.	8.8001	0.34903	0.0:1.0:0.0:0.0	.	62	Q96LB0	MRGX3_HUMAN	Y	62	ENSP00000379571:S62Y;ENSP00000436242:S62Y	ENSP00000379571:S62Y	S	+	2	0	MRGPRX3	18115510	0.864000	0.29904	0.009000	0.14445	0.005000	0.04900	1.763000	0.38461	1.108000	0.41662	0.430000	0.28490	TCC		0.587	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		A	18158934	C	A	18158934	3	1	155	1	0	0	0	0	1	0	0	0	9768	855	30	3	187	3	MRGPRX3	11	18158934	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09		18158934	116847582	48	8683											
OR9G4	283189	genome.wustl.edu	37	11	56510658	56510658	+	Silent	SNP	G	G	A	rs149148369		TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr11:56510658G>A	ENST00000302957.3	-	1	629	c.630C>T	c.(628-630)taC>taT	p.Y210Y		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGACTTTTTCGTAGACCCTGG	0.438																																																0			11						G		1,4401	2.1+/-5.4	0,1,2200	79	73	75		630	-1.6	0.4	11	dbSNP_134	75	0,8592		0,0,4296	no	coding-synonymous	OR9G4	NM_001005284.1		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		210/328	56510658	1,12993	2201	4296	6497	56267234	SO:0001819	synonymous_variant	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.630C>T	11.37:g.56510658G>A			56267234	Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	CCDS31537.1																																																																																				0.438	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		A	56510658	G	A	56510658	2	1	155	1	0	0	0	0	0	0	0	1	11251	1140	40	1		1	OR9G4	11	56510658	Silent	SNP	G	TCGA-13-2061-01A-01D-1526-09	38351724	56510658	78495858	49	8684											
OR1S1	219959	genome.wustl.edu	37	11	57983179	57983179	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr11:57983179A>T	ENST00000309433.6	+	1	963	c.963A>T	c.(961-963)aaA>aaT	p.K321N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCAATAGAAAAATTTCTTCCC	0.423																																																0			11											137	137	137					11																	57983179		2201	4295	6496	57739755	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.963A>T	11.37:g.57983179A>T	ENSP00000311688:p.Lys321Asn		57739755	Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	9.107	1.005495	0.19199	.	.	ENSG00000172774	ENST00000309433	T	0.39406	1.08	3.23	0.348	0.16026	.	0.374005	0.22513	N	0.059071	T	0.24275	0.0588	N	0.25825	0.765	0.09310	N	1	B	0.18863	0.031	B	0.15052	0.012	T	0.12502	-1.0545	10	0.33940	T	0.23	.	6.521	0.22275	0.6019:0.0:0.0:0.3981	.	321	Q8NH92	OR1S1_HUMAN	N	321	ENSP00000311688:K321N	ENSP00000311688:K321N	K	+	3	2	OR1S1	57739755	0.000000	0.05858	0.005000	0.12908	0.109000	0.19521	0.127000	0.15790	0.295000	0.22570	0.392000	0.25879	AAA		0.423	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		T	57983179	A	T	57983179	3	4	155	1	0	0	0	0	1	0	0	0	10972	11	1	5	965	5	OR1S1	11	57983179	Missense_Mutation	SNP	A	TCGA-13-2061-01A-01D-1526-09	1472521	57983179	77023337	50	8685											
OR10Q1	219960	genome.wustl.edu	37	11	57995525	57995525	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr11:57995525C>T	ENST00000316770.2	-	1	865	c.823G>A	c.(823-825)Gag>Aag	p.E275K		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGGCTGTCCTCATCCTCTGAG	0.567																																																0			11											108	96	100					11																	57995525		2201	4295	6496	57752101	SO:0001583	missense	219960			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.823G>A	11.37:g.57995525C>T	ENSP00000314324:p.Glu275Lys		57752101	Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	3.896	-0.023010	0.07634	.	.	ENSG00000180475	ENST00000316770	T	0.00084	8.75	5.07	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000619	T	0.00144	0.0004	N	0.04335	-0.225	0.20196	N	0.999922	D	0.59357	0.985	D	0.66979	0.948	T	0.56703	-0.7935	10	0.06757	T	0.87	.	7.2936	0.26380	0.0:0.5817:0.3317:0.0866	.	275	Q8NGQ4	O10Q1_HUMAN	K	275	ENSP00000314324:E275K	ENSP00000314324:E275K	E	-	1	0	OR10Q1	57752101	0.000000	0.05858	0.841000	0.33234	0.088000	0.18126	-0.054000	0.11826	1.329000	0.45376	0.650000	0.86243	GAG		0.567	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		T	57995525	C	T	57995525	3	4	155	1	0	0	0	0	1	0	0	0	10916	835	29	2	140	2	OR10Q1	11	57995525	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	12346	57995525	77010991	51	8686											
MS4A3	932	genome.wustl.edu	37	11	59828789	59828789	+	Splice_Site	SNP	G	G	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr11:59828789G>T	ENST00000278865.3	+	2	229	c.156G>T	c.(154-156)ggG>ggT	p.G52G	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Splice_Site_p.G52G|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000358152.2_Splice_Site_p.G52G	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	52						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				AAGTTCTTGGGGTAAGTCAGC	0.428																																																0			11											100	96	98					11																	59828789		2201	4295	6496	59585365	SO:0001630	splice_region_variant	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.156+1G>T	11.37:g.59828789G>T			59585365	A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	CCDS31567.1																																																																																				0.428	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1		Silent	T	59828789	G	T	59828789	5	4	155	1	0	0	0	0	0	0	1	0	9861	1246	43	3	158	3	MS4A3	11	59828789	Splice_Site	SNP	G	TCGA-13-2061-01A-01D-1526-09	1833264	59828789	75177727	52	8687											
ADAMTS20	80070	genome.wustl.edu	37	12	43770440	43770440	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr12:43770440C>G	ENST00000389420.3	-	33	5011	c.5012G>C	c.(5011-5013)gGa>gCa	p.G1671A		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1671	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G1671E(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATCCCAATTCCACAAGTCAC	0.353																																																2	Substitution - Missense(2)	skin(2)	12											89	91	90					12																	43770440		2203	4300	6503	42056707	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5012G>C	12.37:g.43770440C>G	ENSP00000374071:p.Gly1671Ala		42056707	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842662	0.71488	.	.	ENSG00000173157	ENST00000389420	T	0.70631	-0.5	4.87	4.87	0.63330	.	0.000000	0.45361	D	0.000364	D	0.87212	0.6121	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88420	0.3028	10	0.48119	T	0.1	.	18.915	0.92501	0.0:1.0:0.0:0.0	.	1671	P59510	ATS20_HUMAN	A	1671	ENSP00000374071:G1671A	ENSP00000374071:G1671A	G	-	2	0	ADAMTS20	42056707	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.956000	0.70315	2.633000	0.89246	0.650000	0.86243	GGA		0.353	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		G	43770440	C	G	43770440	3	3	155	1	0	0	0	0	1	0	0	0	266	855	30	3	747	3	ADAMTS20	12	43770440	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09		43770440	90081455	53	8688											
C1QL4	338761	genome.wustl.edu	37	12	49730135	49730135	+	Silent	SNP	G	G	C	rs146137821	byFrequency	TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr12:49730135G>C	ENST00000334221.3	-	1	836	c.126C>G	c.(124-126)ccC>ccG	p.P42P		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	42						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCGCGCCGTCGGGACCAGGGC	0.756													G|||	454	0.090655	0.0991	0.0836	5008	,	,		11826	0.0248		0.1332	False		,,,				2504	0.1084															0			12						G		278,3274		16,246,1514	4	4	4		126	3.4	0.9	12	dbSNP_134	4	773,6267		42,689,2789	no	coding-synonymous	C1QL4	NM_001008223.1		58,935,4303	CC,CG,GG		10.9801,7.8266,9.9226		42/239	49730135	1051,9541	1776	3520	5296	48016402	SO:0001819	synonymous_variant	338761				CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.126C>G	12.37:g.49730135G>C			48016402		Silent	SNP	ENST00000334221.3	37	CCDS31793.1																																																																																				0.756	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223		C	49730135	G	C	49730135	2	2	155	1	0	0	0	0	0	0	0	1	1961	1103	39	3		3	C1QL4	12	49730135	Silent	SNP	G	TCGA-13-2061-01A-01D-1526-09	5959695	49730135	84121760	54	8689											
ITGA7	3679	genome.wustl.edu	37	12	56081783	56081783	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr12:56081783A>T	ENST00000555728.1	-	25	3315	c.3287T>A	c.(3286-3288)cTa>cAa	p.L1096Q	ITGA7_ENST00000452168.2_Missense_Mutation_p.L959Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.L1096Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.L1046Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.L1056Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.L1056Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.L1052Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.L1052Q			Q13683	ITA7_HUMAN	integrin, alpha 7	1096					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGCAGTGCTAGCACCAGCAG	0.587																																																0			12											106	106	106					12																	56081783		2203	4300	6503	54368050	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3287T>A	12.37:g.56081783A>T	ENSP00000452387:p.Leu1096Gln		54368050	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	A	22.1	4.246589	0.80024	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728;ENST00000557555	D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	4.92	4.92	0.64577	.	0.218004	0.30695	N	0.009061	D	0.92034	0.7476	M	0.90977	3.165	0.51482	D	0.999923	D;D;D;P	0.71674	0.998;0.998;0.998;0.955	D;D;D;P	0.69824	0.966;0.925;0.966;0.646	D	0.93484	0.6830	10	0.87932	D	0	.	12.5563	0.56254	1.0:0.0:0.0:0.0	.	959;1096;1056;1115	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	1056;1052;1046;959;1096;1056;1052;925;1096;82	ENSP00000452120:L1056Q;ENSP00000257879:L1052Q;ENSP00000343009:L1046Q;ENSP00000393844:L959Q;ENSP00000257880:L1096Q;ENSP00000377777:L1056Q;ENSP00000377776:L1052Q;ENSP00000452387:L1096Q	ENSP00000257879:L1052Q	L	-	2	0	ITGA7	54368050	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	8.490000	0.90464	1.854000	0.53819	0.386000	0.25728	CTA		0.587	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		T	56081783	A	T	56081783	3	4	155	1	0	0	0	0	1	0	0	0	7881	420	15	5	266	5	ITGA7	12	56081783	Missense_Mutation	SNP	A	TCGA-13-2061-01A-01D-1526-09	6351648	56081783	77770112	55	8690											
HPD	3242	genome.wustl.edu	37	12	122287595	122287595	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr12:122287595T>A	ENST00000289004.4	-	8	551	c.516A>T	c.(514-516)aaA>aaT	p.K172N	HPD_ENST00000543163.1_Missense_Mutation_p.K133N|HPD_ENST00000543869.2_5'UTR	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	172					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ACACTCACAGTTTAGGAAGTA	0.557																																																0			12											96	84	88					12																	122287595		2203	4300	6503	120771978	SO:0001583	missense	3242			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.516A>T	12.37:g.122287595T>A	ENSP00000289004:p.Lys172Asn		120771978	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	T	4.993	0.184376	0.09495	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.62788	-0.0;-0.0	5.41	1.47	0.22746	.	0.045725	0.85682	D	0.000000	T	0.46210	0.1381	L	0.45228	1.405	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.19877	-1.0292	10	0.12766	T	0.61	-21.4775	8.083	0.30756	0.0:0.5953:0.0:0.4047	.	172	P32754	HPPD_HUMAN	N	172;169;133	ENSP00000289004:K172N;ENSP00000441677:K133N	ENSP00000289004:K172N	K	-	3	2	HPD	120771978	0.976000	0.34144	0.982000	0.44146	0.017000	0.09413	0.167000	0.16602	0.233000	0.21120	-0.912000	0.02778	AAA		0.557	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		A	122287595	T	A	122287595	3	1	155	1	0	0	0	0	1	0	0	0	7332	1722	60	5	693	5	HPD	12	122287595	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	66205812	122287595	11564300	56	8691											
F7	2155	genome.wustl.edu	37	13	113770013	113770013	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr13:113770013G>T	ENST00000375581.3	+	6	505	c.470G>T	c.(469-471)gGc>gTc	p.G157V	F7_ENST00000346342.3_Missense_Mutation_p.G135V|F7_ENST00000541084.1_Missense_Mutation_p.G88V	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	157	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> C (in FA7D).|G -> S (in FA7D). {ECO:0000269|PubMed:10862079, ECO:0000269|PubMed:18976247}.|G -> V (in FA7D). {ECO:0000269|PubMed:11129332}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GAGAACGGCGGCTGTGAGCAG	0.642																																																0			13	GRCh37	CM002763	F7	M							55	44	48					13																	113770013		2203	4300	6503	112818014	SO:0001583	missense	2155				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.470G>T	13.37:g.113770013G>T	ENSP00000364731:p.Gly157Val		112818014	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254557	0.39896	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.99766	-6.69;-2.81;-6.69	4.3	2.54	0.30619	Epidermal growth factor-like (1);	0.379201	0.26262	N	0.025394	D	0.99743	0.9898	M	0.94142	3.5	0.80722	D	1	D;D;D;D	0.69078	0.995;0.992;0.997;0.994	D;D;D;D	0.69479	0.964;0.941;0.959;0.911	D	0.98991	1.0808	10	0.87932	D	0	.	6.9395	0.24484	0.2933:0.0:0.7067:0.0	.	88;88;135;157	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	V	135;88;157	ENSP00000329546:G135V;ENSP00000442051:G88V;ENSP00000364731:G157V	ENSP00000329546:G135V	G	+	2	0	F7	112818014	1.000000	0.71417	0.934000	0.37439	0.208000	0.24298	2.668000	0.46816	0.431000	0.26258	0.563000	0.77884	GGC		0.642	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		T	113770013	G	T	113770013	3	4	155	1	0	0	0	0	1	0	0	0	5349	1203	42	3	492	3	F7	13	113770013	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09		113770013	1399865	57	8692											
FBXO33	254170	genome.wustl.edu	37	14	39900992	39900992	+	Silent	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr14:39900992C>A	ENST00000298097.7	-	1	712	c.375G>T	c.(373-375)ctG>ctT	p.L125L	FBXO33_ENST00000554190.1_5'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	125					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TGAGGAATTCCAGCCGAGGCT	0.677																																																0			14											17	20	19					14																	39900992		2157	4234	6391	38970743	SO:0001819	synonymous_variant	254170			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.375G>T	14.37:g.39900992C>A			38970743	Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	ENST00000298097.7	37	CCDS9677.1																																																																																				0.677	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			A	39900992	C	A	39900992	2	1	155	1	0	0	0	0	0	0	0	1	5743	581	21	3		3	FBXO33	14	39900992	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09		39900992	67448548	58	8693											
INO80	54617	genome.wustl.edu	37	15	41279333	41279333	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr15:41279333T>A	ENST00000361937.3	-	31	4212	c.3788A>T	c.(3787-3789)gAg>gTg	p.E1263V	INO80_ENST00000561244.1_5'UTR|INO80_ENST00000401393.3_Missense_Mutation_p.E1263V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1263	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTAACCACCTCTTTGGGTTT	0.443																																																0			15											118	96	103					15																	41279333		2203	4300	6503	39066625	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3788A>T	15.37:g.41279333T>A	ENSP00000355205:p.Glu1263Val		39066625	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.984748	0.93044	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	T;T	0.79033	-1.23;-1.23	4.97	4.97	0.65823	.	0.051190	0.85682	D	0.000000	D	0.89743	0.6803	M	0.90814	3.15	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.91942	0.5564	10	0.87932	D	0	.	15.1122	0.72368	0.0:0.0:0.0:1.0	.	1263	Q9ULG1	INO80_HUMAN	V	57;1263;1263	ENSP00000355205:E1263V;ENSP00000384686:E1263V	ENSP00000263793:E57V	E	-	2	0	INO80	39066625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.821000	0.86641	2.223000	0.72356	0.455000	0.32223	GAG		0.443	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		A	41279333	T	A	41279333	3	1	155	1	0	0	0	0	1	0	0	0	7746	1551	54	5	906	5	INO80	15	41279333	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09		41279333	61252059	59	8694											
DMXL2	23312	genome.wustl.edu	37	15	51799402	51799402	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr15:51799402T>A	ENST00000251076.5	-	16	2980	c.2693A>T	c.(2692-2694)gAg>gTg	p.E898V	DMXL2_ENST00000449909.3_Missense_Mutation_p.E898V|DMXL2_ENST00000543779.2_Missense_Mutation_p.E898V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	898						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCTGTCCTTCTCAATTACTAC	0.318																																																0			15											101	96	98					15																	51799402		2195	4289	6484	49586694	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2693A>T	15.37:g.51799402T>A	ENSP00000251076:p.Glu898Val		49586694	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594264	0.86953	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.43294	0.95;0.95;0.95	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.82517	2.595	0.36927	D	0.891708	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.994	T	0.77327	-0.2629	10	0.87932	D	0	.	14.0715	0.64863	0.0:0.0:0.0:1.0	.	898;898;898	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	V	898	ENSP00000251076:E898V;ENSP00000441858:E898V;ENSP00000400855:E898V	ENSP00000251076:E898V	E	-	2	0	DMXL2	49586694	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.664000	0.83830	1.794000	0.52575	0.397000	0.26171	GAG		0.318	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51799402	T	A	51799402	3	1	155	1	0	0	0	0	1	0	0	0	4595	1551	54	5	6532	5	DMXL2	15	51799402	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	10520069	51799402	50731990	60	8695											
WDR72	256764	genome.wustl.edu	37	15	54025238	54025238	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr15:54025238G>T	ENST00000396328.1	-	2	348	c.109C>A	c.(109-111)Caa>Aaa	p.Q37K	WDR72_ENST00000559418.1_Missense_Mutation_p.Q37K|WDR72_ENST00000557913.1_Missense_Mutation_p.Q37K|WDR72_ENST00000360509.5_Missense_Mutation_p.Q37K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	37										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGACCCTCTTGACTTCCAGTC	0.493																																																0			15											127	107	114					15																	54025238		2194	4293	6487	51812530	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.109C>A	15.37:g.54025238G>T	ENSP00000379619:p.Gln37Lys		51812530	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466147	0.43839	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01258	5.09;5.09	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.288379	0.29972	N	0.010722	T	0.01454	0.0047	L	0.36672	1.1	0.32145	N	0.585024	B	0.27229	0.172	B	0.22386	0.039	T	0.25847	-1.0120	10	0.31617	T	0.26	.	8.9161	0.35583	0.0999:0.0:0.9:0.0	.	37	Q3MJ13	WDR72_HUMAN	K	37	ENSP00000379619:Q37K;ENSP00000353699:Q37K	ENSP00000353699:Q37K	Q	-	1	0	WDR72	51812530	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.414000	0.59802	2.590000	0.87494	0.655000	0.94253	CAA		0.493	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		T	54025238	G	T	54025238	3	4	155	1	0	0	0	0	1	0	0	0	17322	1299	45	3	3275	3	WDR72	15	54025238	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	2225836	54025238	48506154	61	8696											
MYO9A	4649	genome.wustl.edu	37	15	72170562	72170562	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr15:72170562C>T	ENST00000356056.5	-	31	6222	c.5750G>A	c.(5749-5751)gGg>gAg	p.G1917E	MYO9A_ENST00000564571.1_Missense_Mutation_p.G1917E|MYO9A_ENST00000424560.1_Missense_Mutation_p.G1988E|MYO9A_ENST00000444904.1_Missense_Mutation_p.G1898E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1917	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATGCTTTTCCCATCATCCAT	0.363																																																0			15											55	54	54					15																	72170562		2199	4297	6496	69957616	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5750G>A	15.37:g.72170562C>T	ENSP00000348349:p.Gly1917Glu		69957616	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660337	0.88154	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.13420	2.59;2.59;2.59	5.21	5.21	0.72293	.	.	.	.	.	T	0.34600	0.0903	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.02950	-1.1090	9	0.16896	T	0.51	.	19.1165	0.93343	0.0:1.0:0.0:0.0	.	1988;1917	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	E	1917;1988;1898	ENSP00000348349:G1917E;ENSP00000399162:G1988E;ENSP00000398250:G1898E	ENSP00000348349:G1917E	G	-	2	0	MYO9A	69957616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.419000	0.80179	2.567000	0.86603	0.591000	0.81541	GGG		0.363	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		T	72170562	C	T	72170562	3	4	155	1	0	0	0	0	1	0	0	0	10084	623	22	2	1944	2	MYO9A	15	72170562	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	18145324	72170562	30360830	62	8697											
GOLGA6A	342096	genome.wustl.edu	37	15	74363968	74363968	+	Silent	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr15:74363968C>T	ENST00000290438.3	-	15	1663	c.1623G>A	c.(1621-1623)aaG>aaA	p.K541K	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	541						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TCCCGTCCGCCTTCTCCTTCG	0.612																																																0			15											1	1	1					15																	74363968		244	907	1151	72151021	SO:0001819	synonymous_variant	342096			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1623G>A	15.37:g.74363968C>T			72151021	A8K959|Q9NYA7	Silent	SNP	ENST00000290438.3	37	CCDS32290.1																																																																																				0.612	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		T	74363968	C	T	74363968	2	4	155	1	0	0	0	0	0	0	0	1	6557	680	24	2		2	GOLGA6A	15	74363968	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09	2193406	74363968	28167424	63	8698											
COMMD4	54939	genome.wustl.edu	37	15	75631422	75631422	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr15:75631422T>A	ENST00000267935.8	+	5	477	c.278T>A	c.(277-279)cTg>cAg	p.L93Q	COMMD4_ENST00000338995.6_Missense_Mutation_p.L93Q|COMMD4_ENST00000564815.1_Missense_Mutation_p.L71Q|COMMD4_ENST00000562789.1_Missense_Mutation_p.L99Q|COMMD4_ENST00000567195.1_Missense_Mutation_p.L93Q	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	93						cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						TCCAGTGAACTGCAGCAGCTG	0.617																																																0			15											82	77	79					15																	75631422		2197	4294	6491	73418475	SO:0001583	missense	54939			AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.278T>A	15.37:g.75631422T>A	ENSP00000267935:p.Leu93Gln		73418475	B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401561	0.83120	.	.	ENSG00000140365	ENST00000267935;ENST00000338995	T;T	0.34472	1.36;1.36	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.66470	0.2792	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74771	-0.3552	10	0.87932	D	0	.	13.9761	0.64275	0.0:0.0:0.0:1.0	.	93;93	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	Q	93	ENSP00000267935:L93Q;ENSP00000340867:L93Q	ENSP00000267935:L93Q	L	+	2	0	COMMD4	73418475	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	7.544000	0.82117	1.908000	0.55244	0.487000	0.48397	CTG		0.617	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		A	75631422	T	A	75631422	3	1	155	1	0	0	0	0	1	0	0	0	3718	1580	55	5	296	5	COMMD4	15	75631422	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	1267454	75631422	26899970	64	8699											
ALPK3	57538	genome.wustl.edu	37	15	85384029	85384029	+	Missense_Mutation	SNP	G	G	A	rs180863308		TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr15:85384029G>A	ENST00000258888.5	+	5	2292	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	709					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAAGCTCCAGAATGCGGGGC	0.612																																																0			15											42	43	43					15																	85384029		2203	4299	6502	83185033	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2125G>A	15.37:g.85384029G>A	ENSP00000258888:p.Glu709Lys		83185033	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046135	0.55110	.	.	ENSG00000136383	ENST00000258888	T	0.60672	0.17	5.23	4.26	0.50523	.	3.063420	0.00508	N	0.000168	T	0.52419	0.1733	L	0.32530	0.975	0.09310	N	1	B	0.34103	0.437	B	0.30401	0.115	T	0.50783	-0.8787	10	0.62326	D	0.03	-6.7721	12.6307	0.56655	0.0:0.182:0.818:0.0	.	709	Q96L96	ALPK3_HUMAN	K	709	ENSP00000258888:E709K	ENSP00000258888:E709K	E	+	1	0	ALPK3	83185033	0.196000	0.23350	0.042000	0.18584	0.136000	0.21042	2.421000	0.44688	2.444000	0.82710	0.557000	0.71058	GAA		0.612	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		A	85384029	G	A	85384029	3	1	155	1	0	0	0	0	1	0	0	0	546	943	33	2	2143	2	ALPK3	15	85384029	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	9752607	85384029	17147363	65	8700											
ABCC11	85320	genome.wustl.edu	37	16	48210846	48210846	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr16:48210846C>T	ENST00000394747.1	-	24	3876	c.3527G>A	c.(3526-3528)aGg>aAg	p.R1176K	ABCC11_ENST00000353782.5_Missense_Mutation_p.R1176K|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1176K|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1176K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1176	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGAGCCCGTCCTTCCCACGAT	0.562																																																0			16											122	95	104					16																	48210846		2201	4300	6501	46768347	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3527G>A	16.37:g.48210846C>T	ENSP00000378230:p.Arg1176Lys		46768347	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404791	0.96051	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.978	D	0.96374	0.9276	10	0.87932	D	0	-25.811	16.0137	0.80422	0.0:1.0:0.0:0.0	.	1176;1176	Q96J66-2;Q96J66	.;ABCCB_HUMAN	K	1176	ENSP00000311326:R1176K;ENSP00000349017:R1176K;ENSP00000378231:R1176K;ENSP00000378230:R1176K	ENSP00000311326:R1176K	R	-	2	0	ABCC11	46768347	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.184000	0.77705	2.392000	0.81423	0.561000	0.74099	AGG		0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		T	48210846	C	T	48210846	3	4	155	1	0	0	0	0	1	0	0	0	51	681	24	2	645	2	ABCC11	16	48210846	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09		48210846	42143907	66	8701											
PRDM7	11105	genome.wustl.edu	37	16	90127875	90127875	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr16:90127875G>A	ENST00000449207.2	-	8	954	c.935C>T	c.(934-936)tCg>tTg	p.S312L	PRDM7_ENST00000407825.1_Missense_Mutation_p.S106L|PRDM7_ENST00000325921.6_Missense_Mutation_p.S106L	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	312	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCAGTTGGCCGAGGATTTATC	0.438																																																0			16											143	127	132					16																	90127875		2198	4300	6498	88655376	SO:0001583	missense	11105			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.935C>T	16.37:g.90127875G>A	ENSP00000396732:p.Ser312Leu		88655376	A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	2.809	-0.247356	0.05867	.	.	ENSG00000126856	ENST00000325921;ENST00000449207;ENST00000407825	T;T;T	0.64260	1.08;-0.09;1.08	2.45	-2.98	0.05513	SET domain (2);	.	.	.	.	T	0.25382	0.0617	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.16802	0.019;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.001	T	0.13845	-1.0494	8	.	.	.	0.443	0.5691	0.00692	0.1791:0.2517:0.1776:0.3917	.	106;312;106	Q9NQW5-1;Q9NQW5;Q9NQW5-2	.;PRDM7_HUMAN;.	L	106;312;106	ENSP00000315512:S106L;ENSP00000396732:S312L;ENSP00000385121:S106L	.	S	-	2	0	PRDM7	88655376	0.006000	0.16342	0.017000	0.16124	0.111000	0.19643	-0.245000	0.08890	-0.829000	0.04268	-1.145000	0.01858	TCG		0.438	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			A	90127875	G	A	90127875	3	1	155	1	0	0	0	0	1	0	0	0	12464	1059	37	1	555	1	PRDM7	16	90127875	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	41917029	90127875	226878	67	8702											
PLD2	5338	genome.wustl.edu	37	17	4717793	4717793	+	Missense_Mutation	SNP	G	G	T	rs200410286		TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr17:4717793G>T	ENST00000263088.6	+	11	1222	c.1091G>T	c.(1090-1092)tGg>tTg	p.W364L	PLD2_ENST00000572940.1_Missense_Mutation_p.W364L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	364					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ATCACAGACTGGTGGTGAGTG	0.572													G|||	1	0.000199681	0	0	5008	,	,		19392	0		0.001	False		,,,				2504	0															0			17											51	45	47					17																	4717793		2203	4300	6503	4664759	SO:0001583	missense	5338			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1091G>T	17.37:g.4717793G>T	ENSP00000263088:p.Trp364Leu		4664759	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	CCDS11057.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.4	4.917801	0.92249	.	.	ENSG00000129219	ENST00000263088	T	0.21031	2.03	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	T	0.71745	-0.4500	10	0.87932	D	0	-11.3561	16.4671	0.84083	0.0:0.0:1.0:0.0	.	221;364;364	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	L	364	ENSP00000263088:W364L	ENSP00000263088:W364L	W	+	2	0	PLD2	4664759	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.106000	0.94253	2.493000	0.84123	0.561000	0.74099	TGG		0.572	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		T	4717793	G	T	4717793	3	4	155	1	0	0	0	0	1	0	0	0	12046	1357	47	3	1129	3	PLD2	17	4717793	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09		4717793	76477417	68	8703											
TP53	7157	genome.wustl.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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"	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	17	GRCh37	CM083194|CM951225	TP53	M							97	87	90					17																	7578271		2203	4300	6503	7518996	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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg		7518996	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	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	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	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578271	T	C	7578271	3	2	155	1	0	0	0	0	1	0	0	0	16381	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-13-2061-01A-01D-1526-09	2860478	7578271	73616939	69	8704											
TBX2	6909	genome.wustl.edu	37	17	59480475	59480475	+	Silent	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr17:59480475C>T	ENST00000240328.3	+	3	998	c.717C>T	c.(715-717)gcC>gcT	p.A239A	RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	239					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						TAGTGCGAGCCAACGACATCC	0.627																																					GBM(3;187 253 11467 14965 23079)											0			17											122	95	104					17																	59480475		2203	4300	6503	56835257	SO:0001819	synonymous_variant	6909			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.717C>T	17.37:g.59480475C>T			56835257	Q16424|Q7Z647	Silent	SNP	ENST00000240328.3	37	CCDS11627.2																																																																																				0.627	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		T	59480475	C	T	59480475	2	4	155	1	0	0	0	0	0	0	0	1	15655	581	21	2		2	TBX2	17	59480475	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09	51902204	59480475	21714735	70	8705											
APC2	10297	genome.wustl.edu	37	19	1467803	1467803	+	Silent	SNP	C	C	T	rs61749994	byFrequency	TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr19:1467803C>T	ENST00000535453.1	+	14	6216	c.4503C>T	c.(4501-4503)ccC>ccT	p.P1501P	APC2_ENST00000233607.2_Silent_p.P1501P|APC2_ENST00000238483.4_Silent_p.P1227P|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACGACGCCCACTGAGGAGG	0.751													C|||	141	0.028155	0.0303	0.0274	5008	,	,		11248	0		0.0437	False		,,,				2504	0.0389															0			19						C		58,3730		0,58,1836	4	5	4		4503	3	1	19	dbSNP_129	4	295,7489		4,287,3601	no	coding-synonymous	APC2	NM_005883.2		4,345,5437	TT,TC,CC		3.7898,1.5312,3.0505		1501/2304	1467803	353,11219	1894	3892	5786	1418803	SO:0001819	synonymous_variant	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4503C>T	19.37:g.1467803C>T			1418803	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	CCDS12068.1																																																																																				0.751	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		T	1467803	C	T	1467803	2	4	155	1	0	0	0	0	0	0	0	1	764	581	21	2		2	APC2	19	1467803	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09		1467803	57661180	71	8706											
REXO1	57455	genome.wustl.edu	37	19	1827427	1827427	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr19:1827427G>C	ENST00000170168.4	-	2	1455	c.1361C>G	c.(1360-1362)cCa>cGa	p.P454R	CTB-31O20.4_ENST00000587741.1_RNA|CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	454						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCGCGCTGGCCGGTCAGG	0.731																																																0			19											8	9	8					19																	1827427		2084	4078	6162	1778427	SO:0001583	missense	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1361C>G	19.37:g.1827427G>C	ENSP00000170168:p.Pro454Arg		1778427	Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	G	1.609	-0.524448	0.04141	.	.	ENSG00000079313	ENST00000170168	T	0.11495	2.77	2.22	-2.06	0.07298	.	1.087840	0.07125	U	0.844508	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.44174	-0.9345	10	0.16896	T	0.51	-4.033	8.1559	0.31169	0.3736:0.0:0.6264:0.0	.	454	Q8N1G1	REXO1_HUMAN	R	454	ENSP00000170168:P454R	ENSP00000170168:P454R	P	-	2	0	REXO1	1778427	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.524000	0.22940	-0.235000	0.09767	0.555000	0.69702	CCA		0.731	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		C	1827427	G	C	1827427	3	2	155	1	0	0	0	0	1	0	0	0	13244	1348	47	3	2364	3	REXO1	19	1827427	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	359624	1827427	57301556	72	8707											
FBN3	84467	genome.wustl.edu	37	19	8145917	8145917	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr19:8145917C>T	ENST00000600128.1	-	59	7837	c.7423G>A	c.(7423-7425)Ggc>Agc	p.G2475S	FBN3_ENST00000601739.1_Missense_Mutation_p.G2475S|FBN3_ENST00000270509.2_Missense_Mutation_p.G2475S			Q75N90	FBN3_HUMAN	fibrillin 3	2475	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGGTGAAGCCGGGCGGACAG	0.602																																																0			19											58	53	55					19																	8145917		2203	4300	6503	8051917	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7423G>A	19.37:g.8145917C>T	ENSP00000470498:p.Gly2475Ser		8051917	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103082	0.76983	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92545	-3.06	3.91	3.91	0.45181	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.125100	0.53938	U	0.000057	D	0.96978	0.9013	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98370	1.0553	10	0.87932	D	0	.	16.2296	0.82322	0.0:1.0:0.0:0.0	.	2475;581	Q75N90;Q6ZNB8	FBN3_HUMAN;.	S	2475;581	ENSP00000270509:G2475S	ENSP00000270509:G2475S	G	-	1	0	FBN3	8051917	1.000000	0.71417	0.994000	0.49952	0.303000	0.27691	7.431000	0.80335	1.892000	0.54788	0.297000	0.19635	GGC		0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8145917	C	T	8145917	3	4	155	1	0	0	0	0	1	0	0	0	5704	652	23	1	1030	1	FBN3	19	8145917	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	6318490	8145917	50983066	73	8708											
ZNF653	115950	genome.wustl.edu	37	19	11597973	11597973	+	Splice_Site	SNP	T	T	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr19:11597973T>C	ENST00000293771.5	-	5	1308	c.1172A>G	c.(1171-1173)gAg>gGg	p.E391G	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GTCCTCCTTCTCTACAGGGTG	0.652																																					Pancreas(83;980 1446 4542 6441 43352)											0			19											63	72	69					19																	11597973		2203	4300	6503	11458973	SO:0001630	splice_region_variant	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1172-1A>G	19.37:g.11597973T>C			11458973	Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.481231	0.44147	.	.	ENSG00000161914	ENST00000293771	T	0.11930	2.73	4.36	4.36	0.52297	.	0.755999	0.12386	N	0.473421	T	0.08891	0.0220	N	0.14661	0.345	0.33552	D	0.596211	B	0.12630	0.006	B	0.11329	0.006	T	0.06734	-1.0810	10	0.72032	D	0.01	.	7.795	0.29141	0.0:0.097:0.0:0.903	.	391	Q96CK0	ZN653_HUMAN	G	391	ENSP00000293771:E391G	ENSP00000293771:E391G	E	-	2	0	ZNF653	11458973	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.837000	0.48191	1.753000	0.51906	0.459000	0.35465	GAG		0.652	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783	Missense_Mutation	C	11597973	T	C	11597973	5	2	155	1	0	0	0	0	0	0	1	0	18066	1565	54	4	695	4	ZNF653	19	11597973	Splice_Site	SNP	T	TCGA-13-2061-01A-01D-1526-09	3452056	11597973	47531010	74	8709											
ZNF442	79973	genome.wustl.edu	37	19	12462103	12462103	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr19:12462103C>A	ENST00000242804.4	-	6	878	c.296G>T	c.(295-297)aGt>aTt	p.S99I	ZNF442_ENST00000438182.1_Missense_Mutation_p.S30I	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	99	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGGCTGGCGACTTTCACTAAA	0.343																																																0			19											87	81	83					19																	12462103		2203	4300	6503	12323103	SO:0001583	missense	79973			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.296G>T	19.37:g.12462103C>A	ENSP00000242804:p.Ser99Ile		12323103	B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	5.365	0.252613	0.10185	.	.	ENSG00000198342	ENST00000242804;ENST00000438182;ENST00000424168	T;T;T	0.06449	3.41;3.3;3.98	1.51	-0.953	0.10362	Krueppel-associated box (1);	.	.	.	.	T	0.04679	0.0127	L	0.35854	1.095	0.09310	N	1	B	0.15719	0.014	B	0.15052	0.012	T	0.45366	-0.9266	9	0.21540	T	0.41	.	5.0716	0.14609	0.0:0.5869:0.0:0.4131	.	99	Q9H7R0	ZN442_HUMAN	I	99;30;30	ENSP00000242804:S99I;ENSP00000388634:S30I;ENSP00000404935:S30I	ENSP00000242804:S99I	S	-	2	0	ZNF442	12323103	0.000000	0.05858	0.006000	0.13384	0.021000	0.10359	-0.034000	0.12225	-0.071000	0.12886	0.313000	0.20887	AGT		0.343	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		A	12462103	C	A	12462103	3	1	155	1	0	0	0	0	1	0	0	0	17915	565	20	3	1591	3	ZNF442	19	12462103	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	864130	12462103	46666880	75	8710											
ZNF536	9745	genome.wustl.edu	37	19	30936337	30936337	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr19:30936337C>G	ENST00000355537.3	+	2	2015	c.1868C>G	c.(1867-1869)cCt>cGt	p.P623R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	623					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGCAGGGTCCTGGGAACATG	0.587																																																0			19											94	106	102					19																	30936337		2203	4300	6503	35628177	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1868C>G	19.37:g.30936337C>G	ENSP00000347730:p.Pro623Arg		35628177	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.955114	0.00050	.	.	ENSG00000198597	ENST00000355537	T	0.41065	1.01	5.68	3.51	0.40186	.	0.276346	0.35555	N	0.003136	T	0.18341	0.0440	N	0.08118	0	0.37040	D	0.897093	B;B	0.27559	0.181;0.09	B;B	0.20577	0.03;0.02	T	0.18178	-1.0345	10	0.02654	T	1	-15.8387	12.3032	0.54887	0.6199:0.3801:0.0:0.0	.	623;623	A7E228;O15090	.;ZN536_HUMAN	R	623	ENSP00000347730:P623R	ENSP00000347730:P623R	P	+	2	0	ZNF536	35628177	0.981000	0.34729	0.359000	0.25824	0.405000	0.30901	2.247000	0.43151	1.318000	0.45170	0.655000	0.94253	CCT		0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		G	30936337	C	G	30936337	3	3	155	1	0	0	0	0	1	0	0	0	17974	681	24	3	1870	3	ZNF536	19	30936337	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	18474234	30936337	28192646	76	8711											
FCGBP	8857	genome.wustl.edu	37	19	40398460	40398460	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr19:40398460G>C	ENST00000221347.6	-	14	6514	c.6507C>G	c.(6505-6507)caC>caG	p.H2169Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2169	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGGTGTGCGTGCAGGAGCG	0.667																																																0			19											13	15	14					19																	40398460		1898	3626	5524	45090300	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6507C>G	19.37:g.40398460G>C	ENSP00000221347:p.His2169Gln		45090300	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.452239	0.00175	.	.	ENSG00000090920	ENST00000221347	T	0.58506	0.33	2.17	-1.18	0.09617	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.24699	0.0599	N	0.02368	-0.58	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14392	-1.0474	9	0.27082	T	0.32	.	3.5502	0.07843	0.267:0.222:0.511:0.0	.	2169	Q9Y6R7	FCGBP_HUMAN	Q	2169	ENSP00000221347:H2169Q	ENSP00000221347:H2169Q	H	-	3	2	FCGBP	45090300	0.286000	0.24305	0.000000	0.03702	0.002000	0.02628	-0.229000	0.09098	-0.199000	0.10317	-0.482000	0.04802	CAC		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40398460	G	C	40398460	3	2	155	1	0	0	0	0	1	0	0	0	5778	1136	40	3	9802	3	FCGBP	19	40398460	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	9462123	40398460	18730523	77	8712											
SLC4A11	83959	genome.wustl.edu	37	20	3209863	3209863	+	Silent	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr20:3209863C>T	ENST00000380056.3	-	15	1991	c.1944G>A	c.(1942-1944)gcG>gcA	p.A648A	SLC4A11_ENST00000539553.2_Silent_p.A632A|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000380059.3_Silent_p.A675A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	648	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						ACTGGATCTGCGCCATCGCAA	0.632																																					NSCLC(190;922 2139 10266 10292 38692)											0			20											66	68	67					20																	3209863		2203	4300	6503	3157863	SO:0001819	synonymous_variant	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1944G>A	20.37:g.3209863C>T			3157863	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																				0.632	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			T	3209863	C	T	3209863	2	4	155	1	0	0	0	0	0	0	0	1	14655	755	27	1		1	SLC4A11	20	3209863	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09		3209863	59815657	78	8713											
C20orf185	359710	genome.wustl.edu	37	20	31656717	31656717	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr20:31656717A>G	ENST00000375494.3	+	10	1087	c.1087A>G	c.(1087-1089)Aac>Gac	p.N363D		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	363					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCTCCCAGCCAACATCCATGT	0.602																																																0			20											129	94	106					20																	31656717		2203	4300	6503	31120378	SO:0001583	missense	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1087A>G	20.37:g.31656717A>G	ENSP00000364643:p.Asn363Asp		31120378	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	A	5.785	0.329253	0.10956	.	.	ENSG00000186190	ENST00000375494	T	0.07327	3.2	4.25	-1.77	0.07982	.	1.618690	0.03662	N	0.242690	T	0.05090	0.0136	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41106	-0.9527	10	0.11794	T	0.64	0.1349	8.4224	0.32710	0.5147:0.0:0.4853:0.0	.	363	P59826	BPIB3_HUMAN	D	363	ENSP00000364643:N363D	ENSP00000364643:N363D	N	+	1	0	BPIFB3	31120378	0.000000	0.05858	0.395000	0.26283	0.026000	0.11368	-0.124000	0.10595	-0.320000	0.08640	0.482000	0.46254	AAC		0.602	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		G	31656717	A	G	31656717	3	3	155	1	0	0	0	0	1	0	0	0	2097	130	5	4	1125	4	C20orf185	20	31656717	Missense_Mutation	SNP	A	TCGA-13-2061-01A-01D-1526-09	28446854	31656717	31368803	79	8714											
VSTM2L	128434	genome.wustl.edu	37	20	36560151	36560151	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr20:36560151G>C	ENST00000373461.4	+	2	483	c.236G>C	c.(235-237)tGg>tCg	p.W79S	VSTM2L_ENST00000373458.3_Missense_Mutation_p.W79S|VSTM2L_ENST00000373459.4_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	79	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				ATCCAGTGGTGGTATGTACGG	0.657																																																0			20											88	75	80					20																	36560151		2203	4300	6503	35993565	SO:0001583	missense	128434			AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"Immunoglobulin superfamily / V-set domain containing"	16096	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 102"	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.236G>C	20.37:g.36560151G>C	ENSP00000362560:p.Trp79Ser		35993565	E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289110	0.59976	.	.	ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944	T;T;T	0.63096	1.75;-0.02;1.75	4.66	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058540	0.64402	D	0.000001	T	0.81489	0.4833	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.83533	0.0092	10	0.44086	T	0.13	-22.0236	16.8866	0.86077	0.0:0.0:1.0:0.0	.	79	Q96N03	VTM2L_HUMAN	S	79	ENSP00000362557:W79S;ENSP00000362560:W79S;ENSP00000406537:W79S	ENSP00000362557:W79S	W	+	2	0	VSTM2L	35993565	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.564000	0.98151	2.294000	0.77228	0.484000	0.47621	TGG		0.657	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1			C	36560151	G	C	36560151	3	2	155	1	0	0	0	0	1	0	0	0	17230	1357	47	3	242	3	VSTM2L	20	36560151	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	4903434	36560151	26465369	80	8715											
TGM2	7052	genome.wustl.edu	37	20	36758624	36758624	+	Silent	SNP	G	G	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr20:36758624G>A	ENST00000361475.2	-	13	2234	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	TGM2_ENST00000536701.1_Silent_p.A606A|TGM2_ENST00000536724.1_Silent_p.A627A	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	687					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGGTCCCTTAGGCGGGGCCAA	0.592																																																0			20											40	42	42					20																	36758624		2203	4300	6503	36192038	SO:0001819	synonymous_variant	7052			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.2061C>T	20.37:g.36758624G>A			36192038	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	CCDS13302.1																																																																																				0.592	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		A	36758624	G	A	36758624	2	1	155	1	0	0	0	0	0	0	0	1	15830	987	35	2		2	TGM2	20	36758624	Silent	SNP	G	TCGA-13-2061-01A-01D-1526-09	198473	36758624	26266896	81	8716											
STMN3	50861	genome.wustl.edu	37	20	62273470	62273470	+	Silent	SNP	C	C	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr20:62273470C>T	ENST00000370053.1	-	4	555	c.474G>A	c.(472-474)ctG>ctA	p.L158L	STMN3_ENST00000540534.1_Silent_p.L147L	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	158	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CCTTCTCGCGCAGCCGCTCGC	0.741																																																0			20											14	14	14					20																	62273470		2184	4285	6469	61743914	SO:0001819	synonymous_variant	50861			AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.474G>A	20.37:g.62273470C>T			61743914	B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Silent	SNP	ENST00000370053.1	37	CCDS13529.1																																																																																				0.741	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		T	62273470	C	T	62273470	2	4	155	1	0	0	0	0	0	0	0	1	15312	697	25	2		2	STMN3	20	62273470	Silent	SNP	C	TCGA-13-2061-01A-01D-1526-09	25514846	62273470	752050	82	8717											
RTEL1	51750	genome.wustl.edu	37	20	62319070	62319070	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr20:62319070C>G	ENST00000360203.5	+	17	1753	c.1428C>G	c.(1426-1428)atC>atG	p.I476M	RTEL1_ENST00000318100.4_Missense_Mutation_p.I476M|RTEL1_ENST00000370018.3_Missense_Mutation_p.I476M|RTEL1_ENST00000508582.2_Missense_Mutation_p.I500M|RTEL1_ENST00000370003.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.I476M					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCTCCCTCATCCTTACCAGCG	0.682																																																0			20											31	26	27					20																	62319070		2187	4287	6474	61789514	SO:0001583	missense	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1428C>G	20.37:g.62319070C>G	ENSP00000353332:p.Ile476Met		61789514		Missense_Mutation	SNP	ENST00000360203.5	37		.	.	.	.	.	.	.	.	.	.	C	18.91	3.723400	0.68959	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.31	5.31	0.75309	.	0.053641	0.64402	D	0.000001	D	0.89241	0.6659	H	0.95402	3.665	0.44871	D	0.997886	D;D;P	0.71674	0.997;0.998;0.904	D;D;P	0.68765	0.96;0.914;0.769	D	0.91814	0.5462	10	0.87932	D	0	-21.5108	12.9731	0.58524	0.0:0.9209:0.0:0.0791	.	500;476;476	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	M	476;476;500;476	ENSP00000359035:I476M;ENSP00000322287:I476M;ENSP00000424307:I500M;ENSP00000353332:I476M	ENSP00000353332:I476M	I	+	3	3	AL353715.1	61789514	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.276000	0.33156	2.505000	0.84491	0.561000	0.74099	ATC		0.682	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		G	62319070	C	G	62319070	3	3	155	1	0	0	0	0	1	0	0	0	13723	845	30	3	1490	3	RTEL1	20	62319070	Missense_Mutation	SNP	C	TCGA-13-2061-01A-01D-1526-09	45600	62319070	706450	83	8718											
RNF160	26046	genome.wustl.edu	37	21	30316000	30316000	+	Silent	SNP	A	A	G			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr21:30316000A>G	ENST00000361371.5	-	23	4288	c.4209T>C	c.(4207-4209)caT>caC	p.H1403H	LTN1_ENST00000389194.2_Silent_p.H1449H			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1403					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGTATAGCATATGATAAACAG	0.303																																																0			21											78	73	75					21																	30316000		2203	4300	6503	29237871	SO:0001819	synonymous_variant	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4209T>C	21.37:g.30316000A>G			29237871	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37																																																																																					0.303	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		G	30316000	A	G	30316000	2	3	155	1	0	0	0	0	0	0	0	1	13458	446	16	4		4	RNF160	21	30316000	Silent	SNP	A	TCGA-13-2061-01A-01D-1526-09		30316000	17813895	84	8719											
TUBA8	51807	genome.wustl.edu	37	22	18609613	18609613	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr22:18609613G>A	ENST00000330423.3	+	4	941	c.868G>A	c.(868-870)Gag>Aag	p.E290K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E224K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	290					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTCTGTGGCCGAGATAACCAG	0.602																																																0			22											112	92	99					22																	18609613		2203	4300	6503	16989613	SO:0001583	missense	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.868G>A	22.37:g.18609613G>A	ENSP00000333326:p.Glu290Lys		16989613	B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.282555	0.59867	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.83163	-1.69;-1.69;-1.69	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.047710	0.85682	D	0.000000	D	0.93318	0.7870	H	0.95151	3.63	0.80722	D	1	D;D;D	0.76494	0.989;0.999;0.997	P;P;P	0.59948	0.794;0.866;0.765	D	0.94709	0.7890	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	224;314;290	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	K	224;290;314	ENSP00000318575:E224K;ENSP00000333326:E290K;ENSP00000412646:E314K	ENSP00000318575:E224K	E	+	1	0	TUBA8	16989613	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	GAG		0.602	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		A	18609613	G	A	18609613	3	1	155	1	0	0	0	0	1	0	0	0	16750	1059	37	1	882	1	TUBA8	22	18609613	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09		18609613	32694953	85	8720											
APOBEC3G	60489	genome.wustl.edu	37	22	39479798	39479798	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chr22:39479798G>C	ENST00000407997.3	+	5	1001	c.644G>C	c.(643-645)cGg>cCg	p.R215P	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R215P	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	215	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GTCAGAGGACGGCATGAGACT	0.527																																																0			22											127	106	113					22																	39479798		2203	4300	6503	37809744	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.644G>C	22.37:g.39479798G>C	ENSP00000385057:p.Arg215Pro		37809744	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	3.104	-0.184028	0.06340	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.74315	-0.83;-0.83	1.7	-3.4	0.04853	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.76898	0.4052	L	0.61387	1.9	0.09310	N	1	D	0.53151	0.958	P	0.60541	0.876	T	0.68985	-0.5265	9	0.72032	D	0.01	.	3.5346	0.07789	0.1977:0.1593:0.5078:0.1352	.	215	Q9HC16	ABC3G_HUMAN	P	215	ENSP00000413376:R215P;ENSP00000385057:R215P	ENSP00000385057:R215P	R	+	2	0	APOBEC3G	37809744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.018000	0.13422	-2.746000	0.00377	-1.239000	0.01543	CGG		0.527	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		C	39479798	G	C	39479798	3	2	155	1	0	0	0	0	1	0	0	0	794	1116	39	3	662	3	APOBEC3G	22	39479798	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09	20870185	39479798	11824768	86	8721											
DUSP21	63904	genome.wustl.edu	37	X	44703898	44703898	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chrX:44703898G>C	ENST00000339042.4	+	1	650	c.520G>C	c.(520-522)Ggt>Cgt	p.G174R		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	174					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CTCGCCGGTAGGTAACATCCC	0.493																																																0			X											67	58	61					X																	44703898		2203	4300	6503	44588842	SO:0001583	missense	63904			AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.520G>C	X.37:g.44703898G>C	ENSP00000343244:p.Gly174Arg		44588842	Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	CCDS14264.1	.	.	.	.	.	.	.	.	.	.	g	14.58	2.578273	0.45902	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	T	0.03635	3.86	3.95	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.16642	0.0400	M	0.86651	2.83	0.58432	D	0.999998	D	0.89917	1.0	D	0.64237	0.923	T	0.00715	-1.1597	10	0.56958	D	0.05	.	10.1896	0.43019	0.0:0.0:0.8002:0.1998	.	174	Q9H596	DUS21_HUMAN	R	174;173	ENSP00000343244:G174R	ENSP00000343244:G174R	G	+	1	0	DUSP21	44588842	1.000000	0.71417	0.020000	0.16555	0.006000	0.05464	9.492000	0.97957	1.016000	0.39470	-0.227000	0.12334	GGT		0.493	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		C	44703898	G	C	44703898	3	2	155	1	0	0	0	0	1	0	0	0	4820	1000	35	3	522	3	DUSP21	23	44703898	Missense_Mutation	SNP	G	TCGA-13-2061-01A-01D-1526-09		44703898	110566662	87	8722											
STARD8	9754	genome.wustl.edu	37	X	67937450	67937450	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chrX:67937450A>T	ENST00000252336.6	+	5	826	c.454A>T	c.(454-456)Agt>Tgt	p.S152C	STARD8_ENST00000374597.3_Missense_Mutation_p.S152C|STARD8_ENST00000374599.3_Missense_Mutation_p.S232C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	152					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCCCAAGCATAGTCCAGCCAC	0.552																																																0			X											67	52	57					X																	67937450		2203	4300	6503	67854175	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.454A>T	X.37:g.67937450A>T	ENSP00000252336:p.Ser152Cys		67854175	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	a	1.805	-0.476097	0.04414	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08546	3.08;3.09;3.08	4.18	-4.01	0.04045	.	1.250240	0.05170	N	0.499440	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42632	-0.9440	10	0.52906	T	0.07	.	0.6753	0.00865	0.235:0.142:0.3101:0.313	.	232;152	Q92502-2;Q92502	.;STAR8_HUMAN	C	152;232;152	ENSP00000252336:S152C;ENSP00000363727:S232C;ENSP00000363725:S152C	ENSP00000252336:S152C	S	+	1	0	STARD8	67854175	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.220000	0.17660	-0.596000	0.05821	-0.365000	0.07479	AGT		0.552	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		T	67937450	A	T	67937450	3	4	155	1	0	0	0	0	1	0	0	0	15265	420	15	5	716	5	STARD8	23	67937450	Missense_Mutation	SNP	A	TCGA-13-2061-01A-01D-1526-09	23233552	67937450	87333110	88	8723											
COL4A5	1287	genome.wustl.edu	37	X	107930859	107930859	+	Missense_Mutation	SNP	A	A	C			TCGA-13-2061-01A-01D-1526-09	TCGA-13-2061-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0b9de923-d534-4822-bf1a-56ea599bf007	b8882c3b-a721-4993-ac63-d57990255883	g.chrX:107930859A>C	ENST00000361603.2	+	47	4689	c.4445A>C	c.(4444-4446)cAg>cCg	p.Q1482P	COL4A5_ENST00000328300.6_Missense_Mutation_p.Q1488P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1482	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAACACTTCAGGTCTATGAA	0.483									Alport syndrome with Diffuse Leiomyomatosis																																							0			X											128	120	123					X																	107930859		2203	4300	6503	107817515	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4445A>C	X.37:g.107930859A>C	ENSP00000354505:p.Gln1482Pro		107817515	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	8.598	0.886269	0.17540	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94497	-3.44;-3.44	5.58	3.04	0.35103	C-type lectin fold (1);	0.588749	0.17479	N	0.172819	D	0.85234	0.5650	N	0.02403	-0.565	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.36464	0.225;0.225	T	0.75918	-0.3148	10	0.36615	T	0.2	.	4.2965	0.10904	0.574:0.1657:0.2603:0.0	.	1485;1482	E7EVY4;P29400	.;CO4A5_HUMAN	P	1488;1482;1488	ENSP00000331902:Q1488P;ENSP00000354505:Q1482P	ENSP00000331902:Q1488P	Q	+	2	0	COL4A5	107817515	0.191000	0.23288	0.230000	0.23976	0.704000	0.40688	1.304000	0.33482	0.754000	0.32968	0.486000	0.48141	CAG		0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			C	107930859	A	C	107930859	3	2	155	1	0	0	0	0	1	0	0	0	3694	188	7	5	4642	5	COL4A5	23	107930859	Missense_Mutation	SNP	A	TCGA-13-2061-01A-01D-1526-09	39993409	107930859	47339701	89	8724											
SCNN1D	6339	genome.wustl.edu	37	1	1225674	1225674	+	Silent	SNP	G	G	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr1:1225674G>A	ENST00000338555.2	+	10	2338	c.1194G>A	c.(1192-1194)caG>caA	p.Q398Q	SCNN1D_ENST00000379116.5_Silent_p.Q562Q|SCNN1D_ENST00000400928.3_Silent_p.Q398Q|SCNN1D_ENST00000325425.8_Silent_p.Q464Q			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	398					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CCTGCTTCCAGCAGCTGATGG	0.677																																																0			1											48	48	48					1																	1225674		2191	4289	6480	1215537	SO:0001819	synonymous_variant	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1194G>A	1.37:g.1225674G>A			1215537	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	G	2.132	-0.398907	0.04865	.	.	ENSG00000162572	ENST00000379099	.	.	.	3.53	3.53	0.40419	.	.	.	.	.	T	0.68485	0.3006	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68458	-0.5403	4	.	.	.	.	14.1199	0.65180	0.0:0.0:1.0:0.0	.	.	.	.	T	215	.	.	A	+	1	0	SCNN1D	1215537	0.996000	0.38824	0.998000	0.56505	0.747000	0.42532	3.092000	0.50207	1.527000	0.49086	0.306000	0.20318	GCA		0.677	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		A	1225674	G	A	1225674	2	1	156	1	0	0	0	0	0	0	0	1	13932	962	34	2		2	SCNN1D	1	1225674	Silent	SNP	G	TCGA-13-2065-01A-01D-1526-09		1225674	248024947	1	8725											
PANK4	55229	genome.wustl.edu	37	1	2444334	2444334	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr1:2444334C>T	ENST00000378466.3	-	13	1732	c.1720G>A	c.(1720-1722)Gtg>Atg	p.V574M	PANK4_ENST00000435556.3_Missense_Mutation_p.V535M	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	574					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TACGCAGACACGGCTTTGGCC	0.697																																																0			1											73	85	81					1																	2444334		2203	4298	6501	2434194	SO:0001583	missense	55229			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1720G>A	1.37:g.2444334C>T	ENSP00000367727:p.Val574Met		2434194	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	CCDS42.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741657	0.69304	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.06849	3.25;3.25	5.33	4.41	0.53225	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	M	0.80422	2.495	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.03795	-1.1003	10	0.72032	D	0.01	-47.92	12.8052	0.57610	0.0:0.9211:0.0:0.0789	.	535;574	E9PHT6;Q9NVE7	.;PANK4_HUMAN	M	574;535	ENSP00000367727:V574M;ENSP00000421433:V535M	ENSP00000367727:V574M	V	-	1	0	PANK4	2434194	1.000000	0.71417	0.988000	0.46212	0.487000	0.33371	4.522000	0.60539	1.242000	0.43836	0.561000	0.74099	GTG		0.697	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			T	2444334	C	T	2444334	3	4	156	1	0	0	0	0	1	0	0	0	11419	536	19	1	629	1	PANK4	1	2444334	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09	1218660	2444334	246806287	2	8726											
C8A	731	genome.wustl.edu	37	1	57351812	57351812	+	Silent	SNP	G	G	C	rs200084020		TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr1:57351812G>C	ENST00000361249.3	+	7	1164	c.1068G>C	c.(1066-1068)gtG>gtC	p.V356V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	356	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATATCCTGGTGATTGACAAAG	0.398													G|||	1	0.000199681	0	0	5008	,	,		18601	0.001		0	False		,,,				2504	0															0			1											113	99	104					1																	57351812		2203	4300	6503	57124400	SO:0001819	synonymous_variant	731			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1068G>C	1.37:g.57351812G>C			57124400	A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	CCDS606.1																																																																																				0.398	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		C	57351812	G	C	57351812	2	2	156	1	0	0	0	0	0	0	0	1	2416	1277	45	3		3	C8A	1	57351812	Silent	SNP	G	TCGA-13-2065-01A-01D-1526-09	54907478	57351812	191898809	3	8727											
KANK4	163782	genome.wustl.edu	37	1	62739570	62739570	+	Silent	SNP	G	G	A	rs142146326		TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr1:62739570G>A	ENST00000371153.4	-	3	1584	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	402						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGTCTTTGGCGTTCTCTTGGT	0.522																																																0			1						G		1,4405	2.1+/-5.4	0,1,2202	175	146	156		1206	-4.5	0	1	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KANK4	NM_181712.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		402/996	62739570	2,13004	2203	4300	6503	62512158	SO:0001819	synonymous_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1206C>T	1.37:g.62739570G>A			62512158	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	CCDS620.1																																																																																				0.522	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		A	62739570	G	A	62739570	2	1	156	1	0	0	0	0	0	0	0	1	7979	1136	40	1		1	KANK4	1	62739570	Silent	SNP	G	TCGA-13-2065-01A-01D-1526-09	5387758	62739570	186511051	4	8728											
SF3B4	10262	genome.wustl.edu	37	1	149895559	149895559	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr1:149895559C>G	ENST00000271628.8	-	6	1734	c.1150G>C	c.(1150-1152)Gga>Cga	p.G384R		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	384					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGTGTATCCATGGGGGGGC	0.632																																																0			1											18	22	21					1																	149895559		2203	4296	6499	148162183	SO:0001583	missense	10262			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"RNA binding motif (RRM) containing"	10771	protein-coding gene	gene with protein product		605593	"splicing factor 3b, subunit 4, 49kD"			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.1150G>C	1.37:g.149895559C>G	ENSP00000271628:p.Gly384Arg		148162183	Q5SZ63	Missense_Mutation	SNP	ENST00000271628.8	37	CCDS941.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265496	0.59431	.	.	ENSG00000143368	ENST00000271628	T	0.25749	1.78	4.47	4.47	0.54385	.	0.167322	0.52532	D	0.000061	T	0.29126	0.0724	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.05194	-1.0900	10	0.62326	D	0.03	.	13.9872	0.64343	0.0:1.0:0.0:0.0	.	384	Q15427	SF3B4_HUMAN	R	384	ENSP00000271628:G384R	ENSP00000271628:G384R	G	-	1	0	SF3B4	148162183	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.052000	0.71080	2.308000	0.77769	0.650000	0.86243	GGA		0.632	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		G	149895559	C	G	149895559	3	3	156	1	0	0	0	0	1	0	0	0	14156	603	21	3	128	3	SF3B4	1	149895559	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09	87155989	149895559	99355062	5	8729											
S100A7L2	645922	genome.wustl.edu	37	1	153409673	153409673	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr1:153409673G>C	ENST00000368725.2	-	3	199	c.200C>G	c.(199-201)tCc>tGc	p.S67C		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	56	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGGGCATTGGACAAGTAATC	0.373																																																0			1											84	84	84					1																	153409673		2203	4300	6503	151676297	SO:0001583	missense	645922					1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"EF-hand domain containing"	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.200C>G	1.37:g.153409673G>C	ENSP00000357714:p.Ser67Cys		151676297		Missense_Mutation	SNP	ENST00000368725.2	37		.	.	.	.	.	.	.	.	.	.	.	8.779	0.927764	0.18056	.	.	ENSG00000197364	ENST00000368725;ENST00000368724;ENST00000453814	T;T;T	0.06849	3.25;3.25;3.25	1.35	0.341	0.15991	EF-hand-like domain (1);	.	.	.	.	T	0.02929	0.0087	L	0.36672	1.1	0.09310	N	1	D	0.58268	0.982	P	0.46758	0.526	T	0.37244	-0.9714	9	0.66056	D	0.02	.	4.61	0.12397	0.0:0.0:0.627:0.373	.	56	Q5SY68	S1A7B_HUMAN	C	56;56;67	ENSP00000357714:S56C;ENSP00000357713:S56C;ENSP00000405610:S67C	ENSP00000357713:S56C	S	-	2	0	S100A7L2	151676297	0.003000	0.15002	0.009000	0.14445	0.001000	0.01503	0.334000	0.19787	0.097000	0.17492	-0.723000	0.03601	TCC		0.373	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479		C	153409673	G	C	153409673	3	2	156	1	0	0	0	0	1	0	0	0	13788	1174	41	3	142	3	S100A7L2	1	153409673	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	3514114	153409673	95840948	6	8730											
TLR5	7100	genome.wustl.edu	37	1	223286034	223286034	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr1:223286034C>A	ENST00000540964.1	-	4	801	c.340G>T	c.(340-342)Gct>Tct	p.A114S	TLR5_ENST00000342210.6_Missense_Mutation_p.A114S			O60602	TLR5_HUMAN	toll-like receptor 5	114					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCCTGAAAAGCATCTGGATGC	0.408																																																0			1											95	93	94					1																	223286034		2203	4300	6503	221352657	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.340G>T	1.37:g.223286034C>A	ENSP00000440643:p.Ala114Ser		221352657	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878891	0.72294	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.84146	-1.81;-1.81;-1.81	5.03	5.03	0.67393	.	0.172940	0.49305	D	0.000141	D	0.89357	0.6692	L	0.55103	1.725	0.41859	D	0.990218	P	0.50272	0.933	D	0.67900	0.954	D	0.86817	0.2002	10	0.24483	T	0.36	.	15.1656	0.72821	0.1414:0.8586:0.0:0.0	.	114	O60602	TLR5_HUMAN	S	114	ENSP00000440643:A114S;ENSP00000355846:A114S;ENSP00000340089:A114S	ENSP00000340089:A114S	A	-	1	0	TLR5	221352657	0.988000	0.35896	0.902000	0.35471	0.963000	0.63663	2.579000	0.46059	2.483000	0.83821	0.655000	0.94253	GCT		0.408	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		A	223286034	C	A	223286034	3	1	156	1	0	0	0	0	1	0	0	0	15954	710	25	3	2240	3	TLR5	1	223286034	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09	69876361	223286034	25964587	7	8731											
EPAS1	2034	genome.wustl.edu	37	2	46608769	46608769	+	Missense_Mutation	SNP	G	G	A	rs375544083		TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr2:46608769G>A	ENST00000263734.3	+	13	2590	c.2080G>A	c.(2080-2082)Gtg>Atg	p.V694M		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	694					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCCCAGACGTGCTGAGTCC	0.592																																																0			2											54	54	54					2																	46608769		2203	4300	6503	46462273	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2080G>A	2.37:g.46608769G>A	ENSP00000263734:p.Val694Met		46462273	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	3.947	-0.012961	0.07727	.	.	ENSG00000116016	ENST00000263734	T	0.48522	0.81	4.67	-1.87	0.07737	.	3.063880	0.00754	N	0.001081	T	0.30510	0.0767	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.32188	-0.9916	10	0.45353	T	0.12	.	10.8587	0.46815	0.6552:0.0:0.3448:0.0	.	694	Q99814	EPAS1_HUMAN	M	694	ENSP00000263734:V694M	ENSP00000263734:V694M	V	+	1	0	EPAS1	46462273	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.119000	0.10676	-0.265000	0.09352	-0.244000	0.11960	GTG		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		A	46608769	G	A	46608769	3	1	156	1	0	0	0	0	1	0	0	0	5150	1145	40	1	2130	1	EPAS1	2	46608769	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09		46608769	196590604	8	8732											
RGPD3	653489	genome.wustl.edu	37	2	107075744	107075744	+	Silent	SNP	A	A	G			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr2:107075744A>G	ENST00000409886.3	-	2	204	c.117T>C	c.(115-117)gcT>gcC	p.A39A	RGPD3_ENST00000304514.7_Silent_p.A39A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	39					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CATATTCTTTAGCTTCATAAT	0.254																																																0			2											2	2	2					2																	107075744		133	546	679	106442176	SO:0001819	synonymous_variant	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.117T>C	2.37:g.107075744A>G			106442176	B8ZZM4	Silent	SNP	ENST00000409886.3	37	CCDS46379.1																																																																																				0.254	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		G	107075744	A	G	107075744	2	3	156	1	0	0	0	0	0	0	0	1	13290	407	15	4		4	RGPD3	2	107075744	Silent	SNP	A	TCGA-13-2065-01A-01D-1526-09	60466975	107075744	136123629	9	8733											
ALPI	248	genome.wustl.edu	37	2	233323797	233323797	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr2:233323797G>A	ENST00000295463.3	+	11	1605	c.1528G>A	c.(1528-1530)Gcg>Acg	p.A510T		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	510					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCAGTTGCCGCGTCGCTGCC	0.721																																																0			2											6	8	7					2																	233323797		1975	3893	5868	233032041	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1528G>A	2.37:g.233323797G>A	ENSP00000295463:p.Ala510Thr		233032041	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	1.649	-0.514412	0.04200	.	.	ENSG00000163295	ENST00000295463	D	0.95622	-3.76	3.83	-3.27	0.05048	.	2.653370	0.01489	N	0.016989	D	0.85788	0.5778	N	0.08118	0	0.09310	N	1	B	0.32071	0.355	B	0.21708	0.036	T	0.82744	-0.0306	10	0.08599	T	0.76	.	7.8872	0.29656	0.0:0.1519:0.5992:0.2488	.	510	P09923	PPBI_HUMAN	T	510	ENSP00000295463:A510T	ENSP00000295463:A510T	A	+	1	0	ALPI	233032041	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.488000	0.06497	-0.583000	0.05921	-1.012000	0.02466	GCG		0.721	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		A	233323797	G	A	233323797	3	1	156	1	0	0	0	0	1	0	0	0	543	1087	38	1	1570	1	ALPI	2	233323797	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	126248053	233323797	9875576	10	8734											
THUMPD3	25917	genome.wustl.edu	37	3	9416212	9416212	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr3:9416212A>T	ENST00000345094.3	+	5	1154	c.820A>T	c.(820-822)Atc>Ttc	p.I274F	THUMPD3_ENST00000515662.2_Missense_Mutation_p.I274F|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.I274F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	274	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TCTTTTGAACATCCATGATAA	0.388																																																0			3											164	154	157					3																	9416212		2203	4300	6503	9391212	SO:0001583	missense	25917			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.820A>T	3.37:g.9416212A>T	ENSP00000339532:p.Ile274Phe		9391212	Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	CCDS2573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.940243|3.940243	0.73557|0.73557	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000416603|ENST00000452837;ENST00000345094;ENST00000515662	.|T;T;T	.|0.54279	.|0.58;0.58;0.58	5.57|5.57	4.21|4.21	0.49690|0.49690	.|THUMP (3);	.|0.043563	.|0.85682	.|D	.|0.000000	T|T	0.70228|0.70228	0.3200|0.3200	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	.|D	.|0.61080	.|0.989	.|D	.|0.69654	.|0.965	T|T	0.72707|0.72707	-0.4212|-0.4212	5|10	.|0.48119	.|T	.|0.1	-11.6329|-11.6329	11.8003|11.8003	0.52122|0.52122	0.9187:0.0:0.0813:0.0|0.9187:0.0:0.0813:0.0	.|.	.|274	.|Q9BV44	.|THUM3_HUMAN	L|F	106|274	.|ENSP00000395893:I274F;ENSP00000339532:I274F;ENSP00000424064:I274F	.|ENSP00000339532:I274F	H|I	+|+	2|1	0|0	THUMPD3|THUMPD3	9391212|9391212	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.716000|0.716000	0.41182|0.41182	7.467000|7.467000	0.80930|0.80930	2.107000|2.107000	0.64212|0.64212	0.477000|0.477000	0.44152|0.44152	CAT|ATC		0.388	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		T	9416212	A	T	9416212	3	4	156	1	0	0	0	0	1	0	0	0	15884	217	8	5	834	5	THUMPD3	3	9416212	Missense_Mutation	SNP	A	TCGA-13-2065-01A-01D-1526-09		9416212	188606218	11	8735											
CD200	4345	genome.wustl.edu	37	3	112066608	112066608	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr3:112066608G>A	ENST00000315711.8	+	4	682	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	CD200_ENST00000383681.3_Missense_Mutation_p.G135R|CD200_ENST00000473539.1_Missense_Mutation_p.G234R	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	209	Ig-like C2-type.				regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GAATCAGGTGGGGAAGGAGGT	0.502																																																0			3											112	110	111					3																	112066608		2203	4300	6503	113549298	SO:0001583	missense	4345				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7203	protein-coding gene	gene with protein product		155970	"antigen identified by monoclonal antibody MRC OX-2", "CD200 antigen"	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.625G>A	3.37:g.112066608G>A	ENSP00000312766:p.Gly209Arg		113549298	B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000315711.8	37	CCDS2965.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042179	0.35989	.	.	ENSG00000091972	ENST00000315711;ENST00000473539;ENST00000383681	T;T;T	0.24151	1.87;1.87;1.87	5.66	5.66	0.87406	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.123897	0.37012	N	0.002297	T	0.35828	0.0945	L	0.29908	0.895	0.40618	D	0.98173	P;D;D;D;P	0.67145	0.941;0.993;0.994;0.996;0.928	P;P;D;D;P	0.66497	0.779;0.865;0.917;0.944;0.671	T	0.03354	-1.1045	10	0.22706	T	0.39	-17.0782	15.2504	0.73539	0.0:0.0:1.0:0.0	.	209;135;135;209;234	P41217;F8W7G1;B4DDZ6;P41217-2;P41217-3	OX2G_HUMAN;.;.;.;.	R	209;234;135	ENSP00000312766:G209R;ENSP00000420298:G234R;ENSP00000373179:G135R	ENSP00000312766:G209R	G	+	1	0	CD200	113549298	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	5.238000	0.65366	2.648000	0.89879	0.655000	0.94253	GGG		0.502	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1			A	112066608	G	A	112066608	3	1	156	1	0	0	0	0	1	0	0	0	2980	1232	43	2	718	2	CD200	3	112066608	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	102650396	112066608	85955822	12	8736											
TSC22D2	9819	genome.wustl.edu	37	3	150128592	150128592	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr3:150128592G>C	ENST00000361875.3	+	1	2471	c.1455G>C	c.(1453-1455)caG>caC	p.Q485H	TSC22D2_ENST00000361136.2_Missense_Mutation_p.Q485H	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	485					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCCGCCGCAGATGGGTGGCA	0.721																																																0			3											29	28	28					3																	150128592		2203	4298	6501	151611282	SO:0001583	missense	9819			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1455G>C	3.37:g.150128592G>C	ENSP00000354543:p.Gln485His		151611282	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081851	0.36758	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.37752	1.18;1.22	4.41	2.54	0.30619	.	0.000000	0.39834	N	0.001256	T	0.20292	0.0488	N	0.19112	0.55	0.26302	N	0.977963	B;B	0.21606	0.058;0.034	B;B	0.25884	0.064;0.029	T	0.13019	-1.0525	10	0.56958	D	0.05	.	3.7491	0.08559	0.2851:0.0:0.5354:0.1795	.	485;485	O75157-2;O75157	.;T22D2_HUMAN	H	485	ENSP00000354543:Q485H;ENSP00000354893:Q485H	ENSP00000354893:Q485H	Q	+	3	2	TSC22D2	151611282	0.997000	0.39634	0.998000	0.56505	0.949000	0.60115	0.966000	0.29331	0.818000	0.34468	0.563000	0.77884	CAG		0.721	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		C	150128592	G	C	150128592	3	2	156	1	0	0	0	0	1	0	0	0	16608	933	33	3	1457	3	TSC22D2	3	150128592	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	38061984	150128592	47893838	13	8737											
CORIN	10699	genome.wustl.edu	37	4	47679958	47679958	+	Missense_Mutation	SNP	C	C	G	rs149563697	byFrequency	TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr4:47679958C>G	ENST00000273857.4	-	9	1245	c.1246G>C	c.(1246-1248)Gtc>Ctc	p.V416L	CORIN_ENST00000505909.1_Missense_Mutation_p.V379L|CORIN_ENST00000502252.1_Missense_Mutation_p.V349L|CORIN_ENST00000504584.1_Missense_Mutation_p.V379L|CORIN_ENST00000508498.1_Missense_Mutation_p.V277L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	416					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACTTACTGACGCTGCAGTTC	0.493																																																0			4											143	119	128					4																	47679958		2203	4300	6503	47374715	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1246G>C	4.37:g.47679958C>G	ENSP00000273857:p.Val416Leu		47374715	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	8.387	0.838754	0.16891	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.89196	-2.24;-2.24;-2.24;-2.48;-2.24	5.83	0.433	0.16534	.	0.895862	0.09856	N	0.746869	T	0.72342	0.3448	N	0.08118	0	0.09310	N	1	B;B;B;B	0.14012	0.001;0.006;0.009;0.0	B;B;B;B	0.17722	0.005;0.005;0.019;0.002	T	0.57406	-0.7817	10	0.12766	T	0.61	.	4.0723	0.09887	0.2697:0.4438:0.0:0.2865	.	379;379;349;416	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	L	416;277;349;379;379	ENSP00000273857:V416L;ENSP00000425597:V277L;ENSP00000424212:V349L;ENSP00000425401:V379L;ENSP00000423216:V379L	ENSP00000273857:V416L	V	-	1	0	CORIN	47374715	0.000000	0.05858	0.004000	0.12327	0.544000	0.35116	-0.172000	0.09868	0.078000	0.16900	0.591000	0.81541	GTC		0.493	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			G	47679958	C	G	47679958	3	3	156	1	0	0	0	0	1	0	0	0	3752	536	19	3	1938	3	CORIN	4	47679958	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09		47679958	143474318	14	8738											
PALLD	23022	genome.wustl.edu	37	4	169432917	169432917	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr4:169432917G>A	ENST00000505667.1	+	2	435	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	PALLD_ENST00000261509.6_Missense_Mutation_p.E88K|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	88					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAAATTGGGTGAACACGCCTC	0.463									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											0			4											42	44	43					4																	169432917		2203	4300	6503	169669492	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.262G>A	4.37:g.169432917G>A	ENSP00000425556:p.Glu88Lys		169669492	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	7.592	0.670960	0.14776	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898	T;T;T	0.64803	0.02;0.29;-0.12	5.37	2.71	0.32032	.	1.825750	0.04112	N	0.314848	T	0.55289	0.1911	L	0.54323	1.7	0.18873	N	0.999981	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33675	-0.9859	10	0.07175	T	0.84	.	8.4465	0.32845	0.299:0.0:0.701:0.0	.	88;88	B7ZMM5;B2RTX2	.;.	K	88;88;67	ENSP00000261509:E88K;ENSP00000425556:E88K;ENSP00000423063:E67K	ENSP00000261509:E88K	E	+	1	0	PALLD	169669492	0.046000	0.20272	0.000000	0.03702	0.003000	0.03518	2.020000	0.41010	0.256000	0.21614	0.591000	0.81541	GAA		0.463	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		A	169432917	G	A	169432917	3	1	156	1	0	0	0	0	1	0	0	0	11407	1291	45	2	264	2	PALLD	4	169432917	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	121752959	169432917	21721359	15	8739											
SLCO6A1	133482	genome.wustl.edu	37	5	101755572	101755572	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr5:101755572C>G	ENST00000506729.1	-	8	1601	c.1430G>C	c.(1429-1431)tGt>tCt	p.C477S	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C477S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C415S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	477						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACTGGATTACAGCGTACAAA	0.328																																																0			5											110	116	114					5																	101755572		2203	4300	6503	101783471	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1430G>C	5.37:g.101755572C>G	ENSP00000421339:p.Cys477Ser		101783471	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765691	0.49574	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.78126	-1.15;-1.15;-1.15	4.99	4.11	0.48088	Major facilitator superfamily domain, general substrate transporter (1);	0.159778	0.43747	D	0.000527	D	0.89469	0.6724	M	0.91872	3.25	0.44061	D	0.996804	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91252	0.5030	10	0.87932	D	0	.	12.2113	0.54381	0.1713:0.8287:0.0:0.0	.	415;477	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	S	477;477;415	ENSP00000421339:C477S;ENSP00000369135:C477S;ENSP00000373671:C415S	ENSP00000369135:C477S	C	-	2	0	SLCO6A1	101783471	0.980000	0.34600	0.039000	0.18376	0.012000	0.07955	4.405000	0.59741	1.430000	0.47334	0.655000	0.94253	TGT		0.328	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		G	101755572	C	G	101755572	3	3	156	1	0	0	0	0	1	0	0	0	14735	478	17	3	753	3	SLCO6A1	5	101755572	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09		101755572	79159688	16	8740											
NOTCH4	4855	genome.wustl.edu	37	6	32188188	32188188	+	Missense_Mutation	SNP	G	G	C	rs370312303		TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr6:32188188G>C	ENST00000375023.3	-	6	1291	c.1153C>G	c.(1153-1155)Cgc>Ggc	p.R385G		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	385	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATACCTGTGCGTCCAGGTGGG	0.592																																																0			6											133	142	139					6																	32188188		1511	2709	4220	32296166	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1153C>G	6.37:g.32188188G>C	ENSP00000364163:p.Arg385Gly		32296166	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816503	0.50527	.	.	ENSG00000204301	ENST00000375023	D	0.91631	-2.88	4.36	4.36	0.52297	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.193071	0.25875	N	0.027725	D	0.93693	0.7985	M	0.75264	2.295	0.80722	D	1	D;B	0.61697	0.99;0.188	P;B	0.58970	0.849;0.004	D	0.94112	0.7372	10	0.62326	D	0.03	.	14.4145	0.67139	0.0:0.0:1.0:0.0	.	385;385	Q6P3V5;Q99466	.;NOTC4_HUMAN	G	385	ENSP00000364163:R385G	ENSP00000364163:R385G	R	-	1	0	NOTCH4	32296166	0.997000	0.39634	1.000000	0.80357	0.905000	0.53344	2.450000	0.44943	2.241000	0.73720	0.313000	0.20887	CGC		0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			C	32188188	G	C	32188188	3	2	156	1	0	0	0	0	1	0	0	0	10551	1145	40	3	4958	3	NOTCH4	6	32188188	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09		32188188	138926879	17	8741											
TULP1	7287	genome.wustl.edu	37	6	35479548	35479548	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr6:35479548G>C	ENST00000229771.6	-	4	305	c.226C>G	c.(226-228)Cca>Gca	p.P76A	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	76					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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGGGTCTGGGGAAGGCTCC	0.721																																					GBM(55;1027 1091 11115 23439)											0			6											6	8	7					6																	35479548		2156	4229	6385	35587526	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.226C>G	6.37:g.35479548G>C	ENSP00000229771:p.Pro76Ala		35587526	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566788	0.28003	.	.	ENSG00000112041	ENST00000229771	T	0.79653	-1.29	3.53	2.62	0.31277	.	10.136700	0.00520	N	0.000181	T	0.43456	0.1248	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	10	0.40728	T	0.16	.	9.6499	0.39890	0.0:0.4404:0.5596:0.0	.	76	O00294	TULP1_HUMAN	A	76	ENSP00000229771:P76A	ENSP00000229771:P76A	P	-	1	0	TULP1	35587526	0.000000	0.05858	0.002000	0.10522	0.774000	0.43823	-0.635000	0.05471	0.764000	0.33197	0.313000	0.20887	CCA		0.721	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			C	35479548	G	C	35479548	3	2	156	1	0	0	0	0	1	0	0	0	16773	1232	43	3	1450	3	TULP1	6	35479548	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	3291360	35479548	135635519	18	8742											
C6orf168	84553	genome.wustl.edu	37	6	99797000	99797000	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr6:99797000G>C	ENST00000389677.5	-	1	531	c.249C>G	c.(247-249)caC>caG	p.H83Q		NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	83						integral component of membrane (GO:0016021)											CCAGGAGTTCGTGGAGCAGAT	0.667																																																0			6											45	50	48					6																	99797000		2203	4300	6503	99903721	SO:0001583	missense	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.249C>G	6.37:g.99797000G>C	ENSP00000374328:p.His83Gln		99903721	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880297	0.72294	.	.	ENSG00000146267	ENST00000389677	.	.	.	3.87	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.60949	0.881	T	0.55244	-0.8171	9	0.33940	T	0.23	-24.9044	9.9805	0.41811	0.0955:0.0:0.9045:0.0	.	83	Q5TGI0	CF168_HUMAN	Q	83	.	ENSP00000374328:H83Q	H	-	3	2	C6orf168	99903721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.080000	0.57620	1.846000	0.53633	0.555000	0.69702	CAC		0.667	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		C	99797000	G	C	99797000	3	2	156	1	0	0	0	0	1	0	0	0	2343	1136	40	3	1004	3	C6orf168	6	99797000	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	64317452	99797000	71318067	19	8743											
TRMT11	60487	genome.wustl.edu	37	6	126333934	126333934	+	Nonsense_Mutation	SNP	G	G	T	rs549437612		TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr6:126333934G>T	ENST00000334379.5	+	10	1064	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	TRMT11_ENST00000368332.3_Nonsense_Mutation_p.E315*	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	315					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TGGTATCAGAGAATCTACAAG	0.378																																																0			6											120	119	119					6																	126333934		2203	4300	6503	126375627	SO:0001587	stop_gained	60487			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.943G>T	6.37:g.126333934G>T	ENSP00000333934:p.Glu315*		126375627	E1P570|Q5JY11|Q6PGQ5|Q9HC13	Nonsense_Mutation	SNP	ENST00000334379.5	37	CCDS35496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.659576|6.659576	0.97743|0.97743	.|.	.|.	ENSG00000066651|ENSG00000066651	ENST00000334379;ENST00000368332|ENST00000453993	.|T	.|0.38887	.|1.11	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.59473	.|0.2196	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63849	.|-0.6544	.|6	0.48119|0.87932	T|D	0.1|0	-20.3745|-20.3745	19.6241|19.6241	0.95671|0.95671	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	315|113	.|ENSP00000410498:R113I	ENSP00000333934:E315X|ENSP00000410498:R113I	E|R	+|+	1|2	0|0	TRMT11|TRMT11	126375627|126375627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.289000|9.289000	0.96061|0.96061	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.378	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		T	126333934	G	T	126333934	4	4	156	1	0	0	0	0	0	1	0	0	16562	943	33	3	981	3	TRMT11	6	126333934	Nonsense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	26536934	126333934	44781133	20	8744											
STK31	56164	genome.wustl.edu	37	7	23794028	23794028	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr7:23794028G>T	ENST00000355870.3	+	10	1347	c.1228G>T	c.(1228-1230)Gga>Tga	p.G410*	STK31_ENST00000428484.1_Nonsense_Mutation_p.G387*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Nonsense_Mutation_p.G410*|STK31_ENST00000354639.3_Nonsense_Mutation_p.G387*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	410			G -> E (in dbSNP:rs4722266). {ECO:0000269|PubMed:17344846}.			acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCTTTGAATGGATTAGAGAT	0.383																																																0			7											169	169	169					7																	23794028		2203	4300	6503	23760553	SO:0001587	stop_gained	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1228G>T	7.37:g.23794028G>T	ENSP00000348132:p.Gly410*		23760553	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	39	7.503317	0.98325	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.76	3.91	0.45181	.	0.639291	0.16334	N	0.218991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-3.9124	6.7093	0.23268	0.1492:0.1529:0.6979:0.0	.	.	.	.	X	410;410;387;387	.	ENSP00000346660:G387X	G	+	1	0	STK31	23760553	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.050000	0.41297	1.407000	0.46875	0.585000	0.79938	GGA		0.383	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		T	23794028	G	T	23794028	4	4	156	1	0	0	0	0	0	1	0	0	15298	1349	47	3	1266	3	STK31	7	23794028	Nonsense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09		23794028	135344635	21	8745											
SMO	6608	genome.wustl.edu	37	7	128846006	128846006	+	Silent	SNP	G	G	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr7:128846006G>T	ENST00000249373.3	+	5	1216	c.936G>T	c.(934-936)ctG>ctT	p.L312L		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	312					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	ATGAGACTCTGTCCTGCGTCA	0.562			Mis		skin basal cell																																		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0			7											285	238	254					7																	128846006		2203	4300	6503	128633242	SO:0001819	synonymous_variant	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.936G>T	7.37:g.128846006G>T			128633242	A4D1K5	Silent	SNP	ENST00000249373.3	37	CCDS5811.1																																																																																				0.562	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		T	128846006	G	T	128846006	2	4	156	1	0	0	0	0	0	0	0	1	14803	1364	48	3		3	SMO	7	128846006	Silent	SNP	G	TCGA-13-2065-01A-01D-1526-09	105051978	128846006	30292657	22	8746											
PAX5	5079	genome.wustl.edu	37	9	37006474	37006474	+	Missense_Mutation	SNP	G	G	C	rs371911756		TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr9:37006474G>C	ENST00000358127.4	-	4	545	c.471C>G	c.(469-471)agC>agG	p.S157R	PAX5_ENST00000520281.1_Missense_Mutation_p.S157R|PAX5_ENST00000446742.1_Missense_Mutation_p.S91R|PAX5_ENST00000520154.1_Missense_Mutation_p.S157R|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000523241.1_Missense_Mutation_p.S157R|PAX5_ENST00000377852.2_Missense_Mutation_p.S157R|PAX5_ENST00000414447.1_Missense_Mutation_p.S157R|PAX5_ENST00000377853.2_Missense_Mutation_p.S157R|PAX5_ENST00000377847.2_Missense_Mutation_p.S157R|PAX5_ENST00000523145.1_Missense_Mutation_p.S49R|PAX5_ENST00000522003.1_Missense_Mutation_p.S49R	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	157					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)	p.?(40)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TCTTACCTATGCTGTGACTGG	0.368			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																		Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	40	Unknown(40)	haematopoietic_and_lymphoid_tissue(40)	9											164	162	162					9																	37006474		2203	4300	6503	36996474	SO:0001583	missense	5079				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.471C>G	9.37:g.37006474G>C	ENSP00000350844:p.Ser157Arg		36996474	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063725	0.36373	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D;D	0.97924	-4.13;-4.13;-4.12;-4.61;-4.61;-4.61;-3.63;-1.92;-2.48;-4.6;-4.61	5.32	2.13	0.27403	.	0.090839	0.85682	D	0.000000	D	0.96987	0.9016	L	0.40543	1.245	0.39496	D	0.968123	B;P;D;B;B;P;P;P;P	0.76494	0.244;0.454;0.999;0.244;0.389;0.791;0.895;0.895;0.895	B;B;D;B;B;B;B;P;P	0.73380	0.055;0.153;0.98;0.055;0.25;0.368;0.264;0.514;0.514	D	0.94245	0.7488	10	0.24483	T	0.36	.	9.4413	0.38670	0.2581:0.0:0.7419:0.0	.	157;157;91;157;157;157;157;157;157	C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;PAX5_HUMAN	R	157;49;157;157;157;157;157;91;49;49;157;157	ENSP00000350844:S157R;ENSP00000367084:S157R;ENSP00000367083:S157R;ENSP00000429637:S157R;ENSP00000429291:S157R;ENSP00000430773:S157R;ENSP00000404687:S91R;ENSP00000429359:S49R;ENSP00000429197:S49R;ENSP00000412188:S157R;ENSP00000367078:S157R	ENSP00000350844:S157R	S	-	3	2	PAX5	36996474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.758000	0.38410	0.193000	0.20303	0.650000	0.86243	AGC		0.368	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			C	37006474	G	C	37006474	3	2	156	1	0	0	0	0	1	0	0	0	11482	1310	46	3	732	3	PAX5	9	37006474	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09		37006474	104206957	23	8747											
VAV2	7410	genome.wustl.edu	37	9	136640099	136640099	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr9:136640099C>A	ENST00000371850.3	-	25	2124	c.2093G>T	c.(2092-2094)aGg>aTg	p.R698M	VAV2_ENST00000371851.1_Missense_Mutation_p.R688M|VAV2_ENST00000406606.3_Missense_Mutation_p.R688M	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	698	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AGGCCGCTCCCTGATCAGGTA	0.612																																																0			9											68	63	65					9																	136640099		2203	4300	6503	135629920	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2093G>T	9.37:g.136640099C>A	ENSP00000360916:p.Arg698Met		135629920	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237120	0.79800	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	D;D;D	0.99292	-5.7;-5.7;-5.7	5.28	5.28	0.74379	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97556	1.0095	10	0.87932	D	0	.	17.9	0.88900	0.0:1.0:0.0:0.0	.	688;698;688	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	M	698;688;688;688	ENSP00000360916:R698M;ENSP00000360917:R688M;ENSP00000385362:R688M	ENSP00000317258:R688M	R	-	2	0	VAV2	135629920	1.000000	0.71417	0.974000	0.42286	0.435000	0.31806	7.189000	0.77747	2.474000	0.83562	0.655000	0.94253	AGG		0.612	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			A	136640099	C	A	136640099	3	1	156	1	0	0	0	0	1	0	0	0	17132	681	24	3	567	3	VAV2	9	136640099	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09	99633625	136640099	4573332	24	8748											
FBXO18	84893	genome.wustl.edu	37	10	5948407	5948407	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr10:5948407C>G	ENST00000362091.4	+	3	680	c.565C>G	c.(565-567)Cct>Gct	p.P189A	FBXO18_ENST00000379999.5_Missense_Mutation_p.P240A|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	189					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGACGTGGGTCCTGATCCCAT	0.582																																																0			10											79	62	68					10																	5948407		2203	4300	6503	5988413	SO:0001583	missense	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.565C>G	10.37:g.5948407C>G	ENSP00000355415:p.Pro189Ala		5988413	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	1.586	-0.530208	0.04112	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.76	5.76	0.90799	.	0.376195	0.28062	N	0.016747	T	0.57359	0.2048	L	0.57536	1.79	0.50313	D	0.99986	B;B;B	0.26547	0.152;0.017;0.011	B;B;B	0.24394	0.053;0.004;0.014	T	0.52079	-0.8623	9	0.20519	T	0.43	-4.1469	14.4137	0.67135	0.1843:0.8157:0.0:0.0	.	240;189;115	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	A	189;240	.	ENSP00000355415:P189A	P	+	1	0	FBXO18	5988413	0.008000	0.16893	0.027000	0.17364	0.002000	0.02628	1.541000	0.36126	2.713000	0.92767	0.655000	0.94253	CCT		0.582	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		G	5948407	C	G	5948407	3	3	156	1	0	0	0	0	1	0	0	0	5731	855	30	3	737	3	FBXO18	10	5948407	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09		5948407	129586340	25	8749											
PCDH15	65217	genome.wustl.edu	37	10	55849749	55849749	+	Silent	SNP	T	T	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr10:55849749T>A	ENST00000320301.6	-	16	2386	c.1992A>T	c.(1990-1992)tcA>tcT	p.S664S	PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373957.3_Silent_p.S642S|PCDH15_ENST00000395445.1_Silent_p.S671S|PCDH15_ENST00000395432.2_Silent_p.S627S|PCDH15_ENST00000414778.1_Silent_p.S669S|PCDH15_ENST00000395430.1_Silent_p.S664S|PCDH15_ENST00000395438.1_Silent_p.S664S|PCDH15_ENST00000409834.1_Silent_p.S275S|PCDH15_ENST00000395446.1_Silent_p.S664S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.S642S|PCDH15_ENST00000361849.3_Silent_p.S664S|PCDH15_ENST00000373965.2_Silent_p.S671S|PCDH15_ENST00000373955.1_Silent_p.S664S|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACGTTTCTGAAAGATTAA	0.348										HNSCC(58;0.16)																																						0			10											58	60	60					10																	55849749		2203	4298	6501	55519755	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1992A>T	10.37:g.55849749T>A			55519755	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.348	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55849749	T	A	55849749	2	1	156	1	0	0	0	0	0	0	0	1	11511	1567	55	5		5	PCDH15	10	55849749	Silent	SNP	T	TCGA-13-2065-01A-01D-1526-09	49901342	55849749	79684998	26	8750											
C10orf118	55088	genome.wustl.edu	37	10	115896971	115896971	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr10:115896971A>G	ENST00000369287.3	-	7	1566	c.1300T>C	c.(1300-1302)Tgt>Cgt	p.C434R	C10orf118_ENST00000543782.1_Missense_Mutation_p.C32R	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		434										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATATCCTGACAGTTTTTTCGT	0.289																																																0			10											281	233	249					10																	115896971		2203	4299	6502	115886961	SO:0001583	missense	55088																														ENST00000369287.3:c.1300T>C	10.37:g.115896971A>G	ENSP00000358293:p.Cys434Arg		115886961	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.3|23.3	4.403300|4.403300	0.83230|0.83230	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353|ENST00000428953	T;T|.	0.61040|.	0.14;0.14|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73528|0.73528	0.3598|0.3598	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|T	0.73395|0.73395	-0.3996|-0.3996	10|5	0.54805|.	T|.	0.06|.	.|.	14.9617|14.9617	0.71161|0.71161	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	32;434|.	F6VCB7;Q7Z3E2|.	.;CJ118_HUMAN|.	R|P	434;32;540|62	ENSP00000358293:C434R;ENSP00000441576:C32R|.	ENSP00000358293:C434R|.	C|L	-|-	1|2	0|0	C10orf118|C10orf118	115886961|115886961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.213000|9.213000	0.95133|0.95133	2.269000|2.269000	0.75478|0.75478	0.456000|0.456000	0.33151|0.33151	TGT|CTG		0.289	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			G	115896971	A	G	115896971	3	3	156	1	0	0	0	0	1	0	0	0	1587	188	7	4	1436	4	C10orf118	10	115896971	Missense_Mutation	SNP	A	TCGA-13-2065-01A-01D-1526-09	60047222	115896971	19637776	27	8751											
CASP4	837	genome.wustl.edu	37	11	104819342	104819342	+	Silent	SNP	C	C	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr11:104819342C>T	ENST00000444739.2	-	6	1753	c.843G>A	c.(841-843)caG>caA	p.Q281Q	CASP4_ENST00000393150.3_Silent_p.Q225Q|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	281					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCTCAGATGACTGTGAAGAGG	0.498																																																0			11											157	119	132					11																	104819342		2202	4299	6501	104324552	SO:0001819	synonymous_variant	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.843G>A	11.37:g.104819342C>T			104324552	A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	37	CCDS8327.1																																																																																				0.498	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		T	104819342	C	T	104819342	2	4	156	1	0	0	0	0	0	0	0	1	2673	564	20	2		2	CASP4	11	104819342	Silent	SNP	C	TCGA-13-2065-01A-01D-1526-09		104819342	30187174	28	8752											
MYF6	4618	genome.wustl.edu	37	12	81101735	81101735	+	Silent	SNP	C	C	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr12:81101735C>T	ENST00000228641.3	+	1	459	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	79					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGTGTCTGATCTGGGCTTGCA	0.632																																																0			12											30	37	34					12																	81101735		2202	4300	6502	79625866	SO:0001819	synonymous_variant	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.237C>T	12.37:g.81101735C>T			79625866	B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	CCDS9019.1																																																																																				0.632	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		T	81101735	C	T	81101735	2	4	156	1	0	0	0	0	0	0	0	1	10028	903	32	2		2	MYF6	12	81101735	Silent	SNP	C	TCGA-13-2065-01A-01D-1526-09		81101735	52750160	29	8753											
CIT	11113	genome.wustl.edu	37	12	120195206	120195206	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr12:120195206C>T	ENST00000261833.7	-	21	2601	c.2549G>A	c.(2548-2550)cGg>cAg	p.R850Q	CIT_ENST00000392521.2_Missense_Mutation_p.R892Q|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	850					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCCAGCAGCCGATTCTTGTC	0.552																																																0			12											268	262	264					12																	120195206		2203	4300	6503	118679589	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2549G>A	12.37:g.120195206C>T	ENSP00000261833:p.Arg850Gln		118679589	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.303778|5.303778	0.95601|0.95601	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.66099	.|-0.19;-0.02	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68796|0.68796	0.3040|0.3040	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.997;0.998	.|P;D;D	.|0.75484	.|0.788;0.968;0.986	T|T	0.63129|0.63129	-0.6706|-0.6706	5|10	.|0.19590	.|T	.|0.45	.|.	19.4686|19.4686	0.94952|0.94952	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|892;850;383	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	S|Q	478|892;850	.|ENSP00000376306:R892Q;ENSP00000261833:R850Q	.|ENSP00000261833:R850Q	G|R	-|-	1|2	0|0	CIT|CIT	118679589|118679589	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.995000|0.995000	0.86356|0.86356	7.277000|7.277000	0.78572|0.78572	2.608000|2.608000	0.88229|0.88229	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.552	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120195206	C	T	120195206	3	4	156	1	0	0	0	0	1	0	0	0	3438	652	23	1	3642	1	CIT	12	120195206	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09	39093471	120195206	13656689	30	8754											
SOX1	6656	genome.wustl.edu	37	13	112721999	112721999	+	Silent	SNP	C	C	T	rs200478519	byFrequency	TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr13:112721999C>T	ENST00000330949.1	+	1	87	c.27C>T	c.(25-27)gaC>gaT	p.D9D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	9					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGGAGACCGACCTGCACTCGC	0.791													c|||	63	0.0125799	0.0446	0.0058	5008	,	,		3200	0		0	False		,,,				2504	0															0			13								125,3921		0,125,1898	8	11	10		27	0.9	0.9	13		10	0,8254		0,0,4127	yes	coding-synonymous	SOX1	NM_005986.2		0,125,6025	TT,TC,CC		0.0,3.0895,1.0163		9/392	112721999	125,12175	2023	4127	6150	111770000	SO:0001819	synonymous_variant	6656				CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"SRY (sex determining region Y)-boxes"	11189	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 1"	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.27C>T	13.37:g.112721999C>T			111770000	Q5W0Q1	Silent	SNP	ENST00000330949.1	37	CCDS9523.1																																																																																				0.791	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		T	112721999	C	T	112721999	2	4	156	1	0	0	0	0	0	0	0	1	14943	506	18	2		2	SOX1	13	112721999	Silent	SNP	C	TCGA-13-2065-01A-01D-1526-09		112721999	2447879	31	8755											
AXIN1	8312	genome.wustl.edu	37	16	343716	343716	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr16:343716G>C	ENST00000262320.3	-	8	2329	c.1958C>G	c.(1957-1959)tCt>tGt	p.S653C	AXIN1_ENST00000354866.3_Missense_Mutation_p.S653C	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	653	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGTCCCCGAAGACCTTGGGGA	0.642																																																0			16											85	92	90					16																	343716		2203	4300	6503	283717	SO:0001583	missense	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1958C>G	16.37:g.343716G>C	ENSP00000262320:p.Ser653Cys		283717	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438774	0.62955	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.62232	0.04;0.04	4.17	4.17	0.49024	.	0.382828	0.31370	N	0.007769	T	0.75042	0.3796	M	0.65498	2.005	0.40946	D	0.984509	D;D	0.71674	0.998;0.966	D;P	0.64144	0.922;0.711	T	0.78922	-0.2013	10	0.56958	D	0.05	-1.5803	15.6374	0.76966	0.0:0.0:1.0:0.0	.	653;653	O15169-2;O15169	.;AXIN1_HUMAN	C	653	ENSP00000262320:S653C;ENSP00000346935:S653C	ENSP00000262320:S653C	S	-	2	0	AXIN1	283717	1.000000	0.71417	0.906000	0.35671	0.117000	0.20001	3.845000	0.55880	2.185000	0.69588	0.478000	0.44815	TCT		0.642	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			C	343716	G	C	343716	3	2	156	1	0	0	0	0	1	0	0	0	1236	942	33	3	646	3	AXIN1	16	343716	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09		343716	90011037	32	8756											
MEFV	4210	genome.wustl.edu	37	16	3294554	3294554	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr16:3294554T>C	ENST00000219596.1	-	7	1684	c.1645A>G	c.(1645-1647)Act>Gct	p.T549A	MEFV_ENST00000536379.1_Missense_Mutation_p.T338A|MEFV_ENST00000541159.1_Missense_Mutation_p.T338A|MEFV_ENST00000339854.4_Missense_Mutation_p.T369A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	549	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TCTTGAGGAGTGGTCCACTTT	0.512																																																0			16											147	136	140					16																	3294554		2197	4300	6497	3234555	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1645A>G	16.37:g.3294554T>C	ENSP00000219596:p.Thr549Ala		3234555	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	T	1.193	-0.634791	0.03584	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.63744	-0.06;0.37;0.27;0.39	5.07	-0.0244	0.13939	.	0.715122	0.12693	N	0.447022	T	0.44932	0.1317	L	0.33485	1.01	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.26155	-1.0111	10	0.25751	T	0.34	-24.6849	6.895	0.24251	0.0:0.0836:0.4544:0.462	.	549	O15553	MEFV_HUMAN	A	549;549;369;338;338;338	ENSP00000219596:T549A;ENSP00000339639:T369A;ENSP00000438711:T338A;ENSP00000445079:T338A	ENSP00000219596:T549A	T	-	1	0	MEFV	3234555	0.015000	0.18098	0.002000	0.10522	0.001000	0.01503	-0.090000	0.11163	0.088000	0.17205	-1.698000	0.00723	ACT		0.512	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		C	3294554	T	C	3294554	3	2	156	1	0	0	0	0	1	0	0	0	9459	1696	59	4	716	4	MEFV	16	3294554	Missense_Mutation	SNP	T	TCGA-13-2065-01A-01D-1526-09	2950838	3294554	87060199	33	8757											
CORO7	79585	genome.wustl.edu	37	16	4414870	4414870	+	Missense_Mutation	SNP	C	C	G	rs556405302		TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr16:4414870C>G	ENST00000251166.4	-	12	1095	c.950G>C	c.(949-951)cGg>cCg	p.R317P	CORO7_ENST00000537233.2_Missense_Mutation_p.R299P|CORO7_ENST00000423908.2_Missense_Mutation_p.R149P|CORO7_ENST00000574025.1_Missense_Mutation_p.R232P|CORO7_ENST00000539968.1_Missense_Mutation_p.R97P|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R317P	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	317					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CAGCGCCTGCCGGGGCACAAG	0.662																																																0			16											30	26	27					16																	4414870		2194	4293	6487	4354871	SO:0001583	missense	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.950G>C	16.37:g.4414870C>G	ENSP00000251166:p.Arg317Pro		4354871	B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348625	0.61183	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.32272	1.46;1.46;1.46	5.31	4.35	0.52113	Domain of unknown function DUF1900 (1);	0.629307	0.13136	N	0.411018	T	0.51295	0.1666	M	0.62088	1.915	0.41784	D	0.989833	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.998;0.999	D;D;D;D;D;D	0.91635	0.99;0.999;0.976;0.999;0.967;0.985	T	0.47674	-0.9099	10	0.87932	D	0	-28.9619	9.8148	0.40846	0.0:0.8408:0.0:0.1592	.	232;299;97;97;317;298	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	P	317;232;97;149	ENSP00000251166:R317P;ENSP00000446221:R97P;ENSP00000391530:R149P	ENSP00000251166:R317P	R	-	2	0	CORO7	4354871	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	3.055000	0.49916	1.224000	0.43551	0.455000	0.32223	CGG		0.662	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		G	4414870	C	G	4414870	3	3	156	1	0	0	0	0	1	0	0	0	3759	652	23	3	1895	3	CORO7	16	4414870	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09	1120316	4414870	85939883	34	8758											
ZFHX3	463	genome.wustl.edu	37	16	72822428	72822428	+	Silent	SNP	C	C	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr16:72822428C>A	ENST00000268489.5	-	10	10419	c.9747G>T	c.(9745-9747)ggG>ggT	p.G3249G	RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2335G|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3249					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTTCCCCTTTCCCTTTGTGTG	0.597																																																0			16											143	155	151					16																	72822428		2198	4300	6498	71379929	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9747G>T	16.37:g.72822428C>A			71379929	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72822428	C	A	72822428	2	1	156	1	0	0	0	0	0	0	0	1	17634	842	30	3		3	ZFHX3	16	72822428	Silent	SNP	C	TCGA-13-2065-01A-01D-1526-09	68407558	72822428	17532325	35	8759											
MYH4	4622	genome.wustl.edu	37	17	10363542	10363542	+	Missense_Mutation	SNP	G	G	T	rs111500941	byFrequency	TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr17:10363542G>T	ENST00000255381.2	-	13	1354	c.1244C>A	c.(1243-1245)aCc>aAc	p.T415N	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	415	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGCCTTTGGTTACGAACTC	0.423																																																0			17											123	112	116					17																	10363542		2203	4300	6503	10304267	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1244C>A	17.37:g.10363542G>T	ENSP00000255381:p.Thr415Asn		10304267		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878193	0.91664	.	.	ENSG00000141048	ENST00000255381	D	0.87809	-2.3	5.56	5.56	0.83823	Myosin head, motor domain (2);	0.000000	0.38492	U	0.001676	D	0.94430	0.8208	M	0.85777	2.775	0.80722	D	1	D	0.64830	0.994	D	0.77557	0.99	D	0.94596	0.7792	10	0.87932	D	0	.	19.8925	0.96935	0.0:0.0:1.0:0.0	.	415	Q9Y623	MYH4_HUMAN	N	415	ENSP00000255381:T415N	ENSP00000255381:T415N	T	-	2	0	MYH4	10304267	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.801000	0.99128	2.787000	0.95880	0.650000	0.86243	ACC		0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		T	10363542	G	T	10363542	3	4	156	1	0	0	0	0	1	0	0	0	10037	1261	44	3	4687	3	MYH4	17	10363542	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09		10363542	70831668	36	8760											
KRT28	162605	genome.wustl.edu	37	17	38955772	38955772	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr17:38955772T>C	ENST00000306658.7	-	1	439	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCCAGGTCCGTATTTTTCATA	0.413																																					Melanoma(19;789 869 15380 26882 39836)											0			17											150	148	148					17																	38955772		2203	4300	6503	36209298	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.374A>G	17.37:g.38955772T>C	ENSP00000305263:p.Tyr125Cys		36209298		Missense_Mutation	SNP	ENST00000306658.7	37	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429408	0.25726	.	.	ENSG00000173908	ENST00000306658	D	0.88509	-2.39	5.18	4.04	0.47022	Filament (1);	0.248759	0.28694	N	0.014455	T	0.81861	0.4912	L	0.28740	0.885	0.34299	D	0.684087	B	0.11235	0.004	B	0.13407	0.009	T	0.82676	-0.0339	10	0.44086	T	0.13	.	11.1378	0.48386	0.1376:0.0:0.0:0.8624	.	125	Q7Z3Y7	K1C28_HUMAN	C	125	ENSP00000305263:Y125C	ENSP00000305263:Y125C	Y	-	2	0	KRT28	36209298	0.016000	0.18221	0.728000	0.30774	0.850000	0.48378	2.072000	0.41510	2.094000	0.63399	0.528000	0.53228	TAC		0.413	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		C	38955772	T	C	38955772	3	2	156	1	0	0	0	0	1	0	0	0	8465	1638	57	4	1052	4	KRT28	17	38955772	Missense_Mutation	SNP	T	TCGA-13-2065-01A-01D-1526-09	28592230	38955772	42239438	37	8761											
RNF213	57674	genome.wustl.edu	37	17	78265425	78265425	+	Splice_Site	SNP	A	A	G			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr17:78265425A>G	ENST00000582970.1	+	8	1414		c.e8-1		RNF213_ENST00000508628.2_Splice_Site|RNF213_ENST00000319921.4_Splice_Site|RNF213_ENST00000456466.1_Splice_Site	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTTCATTCACAGAGACTTGGG	0.408																																																0			17											124	117	120					17																	78265425		2203	4300	6503	75880020	SO:0001630	splice_region_variant	57714			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1272-1A>G	17.37:g.78265425A>G			75880020	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Splice_Site	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947871	0.34377	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9321	0.47224	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF213	75880020	1.000000	0.71417	0.286000	0.24833	0.007000	0.05969	5.189000	0.65098	1.836000	0.53414	0.374000	0.22700	.		0.408	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	Intron	G	78265425	A	G	78265425	5	3	156	1	0	0	0	0	0	0	1	0	13480	202	7	4	1447	4	RNF213	17	78265425	Splice_Site	SNP	A	TCGA-13-2065-01A-01D-1526-09	39309653	78265425	2929785	38	8762											
SLC16A3	9123	genome.wustl.edu	37	17	80194035	80194035	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr17:80194035C>G	ENST00000581287.1	+	1	2473	c.151C>G	c.(151-153)Cag>Gag	p.Q51E	SLC16A3_ENST00000582743.1_Missense_Mutation_p.Q51E|SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000392339.1_Missense_Mutation_p.Q51E|SLC16A3_ENST00000392341.1_Missense_Mutation_p.Q51E	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	51					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	GGAGCTCATACAGGAGTTTGG	0.627																																					Pancreas(52;652 1135 19190 37282 52456)											0			17											104	95	98					17																	80194035		2203	4300	6503	77787324	SO:0001583	missense	9123			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.151C>G	17.37:g.80194035C>G	ENSP00000463978:p.Gln51Glu		77787324	B3KXG8|Q2M1P8	Missense_Mutation	SNP	ENST00000581287.1	37	CCDS11804.1	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443007	0.12164	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.18960	2.18;2.18	5.31	3.26	0.37387	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.808128	0.11050	N	0.605142	T	0.06234	0.0161	N	0.01086	-1.025	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.19946	0.005;0.027	T	0.35871	-0.9771	10	0.02654	T	1	.	9.0131	0.36153	0.3288:0.5384:0.1329:0.0	.	51;51	Q53G91;O15427	.;MOT4_HUMAN	E	51	ENSP00000376152:Q51E;ENSP00000376150:Q51E	ENSP00000376150:Q51E	Q	+	1	0	SLC16A3	77787324	0.011000	0.17503	0.008000	0.14137	0.392000	0.30506	0.915000	0.28638	0.558000	0.29135	0.563000	0.77884	CAG		0.627	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		G	80194035	C	G	80194035	3	3	156	1	0	0	0	0	1	0	0	0	14412	479	17	3	153	3	SLC16A3	17	80194035	Missense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09	1928610	80194035	1001175	39	8763											
KIAA1012	22878	genome.wustl.edu	37	18	29497613	29497613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr18:29497613C>A	ENST00000283351.4	-	3	705	c.370G>T	c.(370-372)Gag>Tag	p.E124*	TRAPPC8_ENST00000582513.1_Nonsense_Mutation_p.E124*|TRAPPC8_ENST00000582539.1_Nonsense_Mutation_p.E70*	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	124					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGTAAGACTCAAACCATGGA	0.333																																																0			18											129	135	133					18																	29497613		2203	4300	6503	27751611	SO:0001587	stop_gained	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.370G>T	18.37:g.29497613C>A	ENSP00000283351:p.Glu124*		27751611	A0JP15|B3KME5|Q9H0L2	Nonsense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	37	6.068195	0.97251	.	.	ENSG00000153339	ENST00000283351	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	X	124	.	ENSP00000283351:E124X	E	-	1	0	TRAPPC8	27751611	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.878000	0.98634	0.650000	0.86243	GAG		0.333	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		A	29497613	C	A	29497613	4	1	156	1	0	0	0	0	0	1	0	0	8204	835	29	3	4045	3	KIAA1012	18	29497613	Nonsense_Mutation	SNP	C	TCGA-13-2065-01A-01D-1526-09		29497613	48579635	40	8764											
PALM	5064	genome.wustl.edu	37	19	746346	746346	+	Silent	SNP	G	G	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr19:746346G>A	ENST00000338448.5	+	9	742	c.696G>A	c.(694-696)gtG>gtA	p.V232V	PALM_ENST00000264560.7_Silent_p.V188V|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	232					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCTCCGAGGTGGACGAACTCA	0.672																																																0			19											48	50	49					19																	746346		2203	4300	6503	697346	SO:0001819	synonymous_variant	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.696G>A	19.37:g.746346G>A			697346	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	ENST00000338448.5	37	CCDS32857.1																																																																																				0.672	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		A	746346	G	A	746346	2	1	156	1	0	0	0	0	0	0	0	1	11408	1335	47	2		2	PALM	19	746346	Silent	SNP	G	TCGA-13-2065-01A-01D-1526-09		746346	58382637	41	8765											
ZNF440	126070	genome.wustl.edu	37	19	11943370	11943370	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr19:11943370G>A	ENST00000304060.5	+	4	1543	c.1379G>A	c.(1378-1380)tGt>tAt	p.C460Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGTTATAAATGTAAGATATGT	0.363																																																0			19											61	66	64					19																	11943370		2201	4300	6501	11804370	SO:0001583	missense	126070			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1379G>A	19.37:g.11943370G>A	ENSP00000305373:p.Cys460Tyr		11804370	Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.272037	0.40194	.	.	ENSG00000171295	ENST00000304060	D	0.85088	-1.94	0.725	0.725	0.18242	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92189	0.7523	M	0.90759	3.145	0.29310	N	0.868067	D	0.89917	1.0	D	0.80764	0.994	D	0.84904	0.0844	9	0.87932	D	0	.	8.9993	0.36072	0.0:0.0:1.0:0.0	.	460	Q8IYI8	ZN440_HUMAN	Y	460	ENSP00000305373:C460Y	ENSP00000305373:C460Y	C	+	2	0	ZNF440	11804370	1.000000	0.71417	0.078000	0.20375	0.070000	0.16714	6.961000	0.76042	0.688000	0.31529	0.194000	0.17425	TGT		0.363	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		A	11943370	G	A	11943370	3	1	156	1	0	0	0	0	1	0	0	0	17913	1377	48	2	1393	2	ZNF440	19	11943370	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	11197024	11943370	47185613	42	8766											
ANO8	57719	genome.wustl.edu	37	19	17435753	17435753	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr19:17435753G>T	ENST00000159087.4	-	17	3262	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1035					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GTCCCGCCGGGTCTCGGGTGA	0.682																																																0			19											70	87	81					19																	17435753		2203	4300	6503	17296753	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3104C>A	19.37:g.17435753G>T	ENSP00000159087:p.Thr1035Asn		17296753	A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	5.483	0.274113	0.10403	.	.	ENSG00000074855	ENST00000159087	T	0.61040	0.14	3.8	2.72	0.32119	.	0.354001	0.26000	U	0.026954	T	0.30135	0.0755	N	0.04508	-0.205	0.22796	N	0.998729	B	0.29909	0.261	B	0.23574	0.047	T	0.14008	-1.0488	10	0.23891	T	0.37	.	10.7906	0.46429	0.0:0.1951:0.8048:0.0	.	1035	Q9HCE9	ANO8_HUMAN	N	1035	ENSP00000159087:T1035N	ENSP00000159087:T1035N	T	-	2	0	ANO8	17296753	1.000000	0.71417	0.997000	0.53966	0.083000	0.17756	4.379000	0.59575	0.550000	0.28991	0.478000	0.44815	ACC		0.682	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		T	17435753	G	T	17435753	3	4	156	1	0	0	0	0	1	0	0	0	703	1261	44	3	602	3	ANO8	19	17435753	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	5492383	17435753	41693230	43	8767											
SPTBN4	57731	genome.wustl.edu	37	19	41081446	41081446	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr19:41081446G>T	ENST00000352632.3	+	36	7752	c.7666G>T	c.(7666-7668)Gat>Tat	p.D2556Y	SHKBP1_ENST00000291842.5_5'Flank|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D2556Y|SPTBN4_ENST00000593816.1_3'UTR|SHKBP1_ENST00000600733.1_5'Flank|SPTBN4_ENST00000392025.1_Missense_Mutation_p.D1299Y			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2556					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAAGGCGGAGATCGCAGGGC	0.602																																																0			19											47	35	39					19																	41081446		2202	4300	6502	45773286	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7666G>T	19.37:g.41081446G>T	ENSP00000263373:p.Asp2556Tyr		45773286	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762978	0.31228	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.76060	-0.99;0.34	4.65	4.65	0.58169	.	0.633680	0.14081	U	0.342702	T	0.56963	0.2021	N	0.08118	0	0.80722	D	1	B;B	0.27732	0.187;0.187	B;B	0.24974	0.057;0.03	T	0.59600	-0.7424	10	0.66056	D	0.02	.	13.3879	0.60805	0.0:0.0:1.0:0.0	.	1299;2556	C9JY79;Q9H254	.;SPTN4_HUMAN	Y	2556;2556;1299	ENSP00000263373:D2556Y;ENSP00000375879:D1299Y	ENSP00000263373:D2556Y	D	+	1	0	SPTBN4	45773286	0.999000	0.42202	0.988000	0.46212	0.128000	0.20619	1.183000	0.32041	2.296000	0.77279	0.462000	0.41574	GAT		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41081446	G	T	41081446	3	4	156	1	0	0	0	0	1	0	0	0	15123	942	33	3	7898	3	SPTBN4	19	41081446	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	23645693	41081446	18047537	44	8768											
C20orf54	113278	genome.wustl.edu	37	20	742441	742441	+	Silent	SNP	G	G	A	rs539208778		TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr20:742441G>A	ENST00000217254.7	-	4	1342	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S	SLC52A3_ENST00000381944.3_Silent_p.S367S|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	367					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										TCCCAAGCACGGAGAGGACCC	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		16148	0		0	False		,,,				2504	0															0			20											72	76	75					20																	742441		2203	4300	6503	690441	SO:0001819	synonymous_variant	113278			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.1101C>T	20.37:g.742441G>A			690441	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	CCDS13007.1																																																																																				0.637	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		A	742441	G	A	742441	2	1	156	1	0	0	0	0	0	0	0	1	2114	1103	39	1		1	C20orf54	20	742441	Silent	SNP	G	TCGA-13-2065-01A-01D-1526-09		742441	62283079	45	8769											
L3MBTL	26013	genome.wustl.edu	37	20	42143412	42143412	+	Silent	SNP	G	G	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chr20:42143412G>A	ENST00000427442.2	+	4	591	c.432G>A	c.(430-432)caG>caA	p.Q144Q	L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000444063.1_Silent_p.Q76Q|L3MBTL1_ENST00000373134.1_Silent_p.Q76Q|L3MBTL1_ENST00000373135.3_Silent_p.Q76Q|L3MBTL1_ENST00000418998.1_Silent_p.Q144Q			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	76					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCCCCCAACAGGCGGGTAGGA	0.761																																																0			20											3	5	4					20																	42143412		1914	3818	5732	41576826	SO:0001819	synonymous_variant	26013			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.432G>A	20.37:g.42143412G>A			41576826	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	CCDS46602.2																																																																																				0.761	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		A	42143412	G	A	42143412	2	1	156	1	0	0	0	0	0	0	0	1	8591	991	35	2		2	L3MBTL	20	42143412	Silent	SNP	G	TCGA-13-2065-01A-01D-1526-09	41400971	42143412	20882108	46	8770											
TLR8	51311	genome.wustl.edu	37	X	12938969	12938969	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chrX:12938969A>T	ENST00000218032.6	+	2	1897	c.1810A>T	c.(1810-1812)Aac>Tac	p.N604Y	TLR8_ENST00000311912.5_Missense_Mutation_p.N622Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	604					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AGATAAGTATAACCTGGAAAG	0.343																																																0			X											54	54	54					X																	12938969		2202	4298	6500	12848890	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1810A>T	X.37:g.12938969A>T	ENSP00000218032:p.Asn604Tyr		12848890	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	A	3.570	-0.087857	0.07097	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.79454	-1.27;-1.27	5.97	-11.9	0.00025	.	3.018720	0.01344	N	0.011670	T	0.54334	0.1852	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.49263	-0.8958	10	0.62326	D	0.03	.	7.911	0.29791	0.1562:0.2993:0.4682:0.0763	.	604;622	Q9NR97;D1CS70	TLR8_HUMAN;.	Y	604;622	ENSP00000218032:N604Y;ENSP00000312082:N622Y	ENSP00000218032:N604Y	N	+	1	0	TLR8	12848890	0.061000	0.20836	0.000000	0.03702	0.005000	0.04900	0.107000	0.15375	-1.937000	0.01047	0.486000	0.48141	AAC		0.343	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		T	12938969	A	T	12938969	3	4	156	1	0	0	0	0	1	0	0	0	15957	362	13	5	1816	5	TLR8	23	12938969	Missense_Mutation	SNP	A	TCGA-13-2065-01A-01D-1526-09		12938969	142331591	47	8771											
SYN1	6853	genome.wustl.edu	37	X	47433449	47433449	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chrX:47433449G>A	ENST00000295987.7	-	12	2058	c.1934C>T	c.(1933-1935)cCg>cTg	p.P645L	SYN1_ENST00000340666.4_Missense_Mutation_p.P645L	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	645	D; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGCGGGTGGCGGCACGTCCTG	0.726																																																0			X											6	7	7					X																	47433449		1986	3859	5845	47318393	SO:0001583	missense	6853				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.1934C>T	X.37:g.47433449G>A	ENSP00000295987:p.Pro645Leu		47318393	B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	g	13.73	2.325523	0.41197	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.33865	1.8;1.39	4.4	3.54	0.40534	.	0.579380	0.15749	N	0.246511	T	0.23532	0.0569	N	0.19112	0.55	0.43907	D	0.996546	B;B	0.21688	0.035;0.059	B;B	0.12837	0.003;0.008	T	0.04041	-1.0982	10	0.52906	T	0.07	-2.3278	9.6571	0.39932	0.1076:0.0:0.8923:0.0	.	645;645	P17600;P17600-2	SYN1_HUMAN;.	L	645	ENSP00000295987:P645L;ENSP00000343206:P645L	ENSP00000295987:P645L	P	-	2	0	SYN1	47318393	0.994000	0.37717	0.896000	0.35187	0.822000	0.46500	1.470000	0.35354	0.792000	0.33850	-0.430000	0.05897	CCG		0.726	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		A	47433449	G	A	47433449	3	1	156	1	0	0	0	0	1	0	0	0	15440	1116	39	1	191	1	SYN1	23	47433449	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	34494480	47433449	107837111	48	8772											
FTSJ1	24140	genome.wustl.edu	37	X	48340873	48340873	+	Silent	SNP	G	G	T	rs140074225	byFrequency	TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chrX:48340873G>T	ENST00000348411.2	+	10	1061	c.738G>T	c.(736-738)tcG>tcT	p.S246S	FTSJ1_ENST00000019019.2_Silent_p.S244S|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000456787.1_Silent_p.S244S|FTSJ1_ENST00000396894.4_Silent_p.S109S	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCTATGATTCGGACCGCAGTT	0.577																																																0			X											123	82	96					X																	48340873		2203	4300	6503	48225817	SO:0001819	synonymous_variant	24140			AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"tRNA methyltransferase 7 homolog (S. cerevisiae)"	300499	"mental retardation, X-linked 9", "mental retardation, X-linked 44"	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.738G>T	X.37:g.48340873G>T			48225817		Silent	SNP	ENST00000348411.2	37	CCDS14294.1																																																																																				0.577	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			T	48340873	G	T	48340873	2	4	156	1	0	0	0	0	0	0	0	1	6087	1103	39	3		3	FTSJ1	23	48340873	Silent	SNP	G	TCGA-13-2065-01A-01D-1526-09	907424	48340873	106929687	49	8773											
STARD8	9754	genome.wustl.edu	37	X	67943669	67943669	+	Missense_Mutation	SNP	G	G	A	rs148586208	byFrequency	TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chrX:67943669G>A	ENST00000252336.6	+	12	3133	c.2761G>A	c.(2761-2763)Gac>Aac	p.D921N	STARD8_ENST00000374599.3_Missense_Mutation_p.D1001N|STARD8_ENST00000374597.3_Missense_Mutation_p.D921N	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	921	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TCCCTGCCGCGACTTTGTGGT	0.627																																																0			X						G	ASN/ASP,ASN/ASP,ASN/ASP	6,3818		0,5,1,1625,563	34	28	30		3001,2761,2761	4.2	1	X	dbSNP_134	30	0,6714		0,0,0,2428,1858	yes	missense,missense,missense	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	23,23,23	0,5,1,4053,2421	AA,AG,A,GG,G		0.0,0.1569,0.0569	possibly-damaging,possibly-damaging,possibly-damaging	1001/1104,921/1024,921/1024	67943669	6,10532	2194	4286	6480	67860394	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2761G>A	X.37:g.67943669G>A	ENSP00000252336:p.Asp921Asn		67860394	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733484	0.69189	0.001569	0.0	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.60299	0.2;0.2;0.2	4.25	4.25	0.50352	Lipid-binding START (3);START-like domain (1);	0.234666	0.34802	N	0.003666	T	0.65428	0.2690	M	0.68593	2.085	0.45330	D	0.998322	D;D	0.61697	0.988;0.99	P;P	0.55824	0.627;0.785	T	0.68243	-0.5460	10	0.59425	D	0.04	.	9.2446	0.37518	0.0:0.2153:0.7847:0.0	.	1001;921	Q92502-2;Q92502	.;STAR8_HUMAN	N	921;1001;921	ENSP00000252336:D921N;ENSP00000363727:D1001N;ENSP00000363725:D921N	ENSP00000252336:D921N	D	+	1	0	STARD8	67860394	1.000000	0.71417	0.961000	0.40146	0.735000	0.41995	5.946000	0.70234	1.971000	0.57363	0.594000	0.82650	GAC		0.627	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		A	67943669	G	A	67943669	3	1	156	1	0	0	0	0	1	0	0	0	15265	1058	37	1	3051	1	STARD8	23	67943669	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	19602796	67943669	87326891	50	8774											
MID2	11043	genome.wustl.edu	37	X	107097870	107097870	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chrX:107097870T>A	ENST00000262843.6	+	3	1300	c.752T>A	c.(751-753)gTt>gAt	p.V251D	MID2_ENST00000443968.2_Missense_Mutation_p.V251D	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	251					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ACCAACCTGGTTAAGCGCAAC	0.453																																																0			X											140	114	123					X																	107097870		2203	4300	6503	106984526	SO:0001583	missense	11043				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.752T>A	X.37:g.107097870T>A	ENSP00000262843:p.Val251Asp		106984526	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346676	0.61073	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.59638	0.25;0.27	5.17	5.17	0.71159	B-box, C-terminal (1);	0.060991	0.64402	D	0.000004	T	0.50735	0.1633	L	0.43152	1.355	0.80722	D	1	B;B	0.27140	0.167;0.169	B;B	0.29598	0.104;0.062	T	0.53585	-0.8418	10	0.66056	D	0.02	.	11.7749	0.51981	0.0:0.0:0.0:1.0	.	251;251	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	D	251	ENSP00000262843:V251D;ENSP00000413976:V251D	ENSP00000262843:V251D	V	+	2	0	MID2	106984526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.218000	0.77991	1.909000	0.55274	0.486000	0.48141	GTT		0.453	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		A	107097870	T	A	107097870	3	1	156	1	0	0	0	0	1	0	0	0	9578	1725	60	5	762	5	MID2	23	107097870	Missense_Mutation	SNP	T	TCGA-13-2065-01A-01D-1526-09	39154201	107097870	48172690	51	8775											
NKRF	55922	genome.wustl.edu	37	X	118723534	118723534	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chrX:118723534G>T	ENST00000371527.1	-	2	2506	c.1854C>A	c.(1852-1854)agC>agA	p.S618R	NKRF_ENST00000304449.5_Missense_Mutation_p.S618R|NKRF_ENST00000542113.1_Missense_Mutation_p.S633R|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	618	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AATCTGTGTGGCTCTCGGAGC	0.453																																																0			X											152	133	140					X																	118723534		2203	4300	6503	118607562	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1854C>A	X.37:g.118723534G>T	ENSP00000360582:p.Ser618Arg		118607562	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	G	1.699	-0.502122	0.04261	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.43294	0.95;0.95;0.95	5.77	4.9	0.64082	Single-stranded nucleic acid binding R3H (3);	0.082013	0.85682	D	0.000000	T	0.22627	0.0546	N	0.16903	0.455	0.46096	D	0.998863	B	0.06786	0.001	B	0.12156	0.007	T	0.11324	-1.0592	10	0.12103	T	0.63	-15.1731	7.5402	0.27733	0.2531:0.0:0.7469:0.0	.	618	O15226	NKRF_HUMAN	R	618;618;633	ENSP00000360582:S618R;ENSP00000304803:S618R;ENSP00000442308:S633R	ENSP00000304803:S618R	S	-	3	2	NKRF	118607562	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.204000	0.32296	2.424000	0.82194	0.600000	0.82982	AGC		0.453	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		T	118723534	G	T	118723534	3	4	156	1	0	0	0	0	1	0	0	0	10447	1194	42	3	222	3	NKRF	23	118723534	Missense_Mutation	SNP	G	TCGA-13-2065-01A-01D-1526-09	11625664	118723534	36547026	52	8776											
ENOX2	10495	genome.wustl.edu	37	X	129822875	129822875	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2065-01A-01D-1526-09	TCGA-13-2065-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	66351632-e3d9-47dc-8545-6546d5679167	f717ca27-9130-4659-a79e-34732875288b	g.chrX:129822875A>G	ENST00000370927.1	-	3	323	c.302T>C	c.(301-303)aTa>aCa	p.I101T	ENOX2_ENST00000338144.3_Missense_Mutation_p.I101T|ENOX2_ENST00000370935.1_Missense_Mutation_p.I72T|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Missense_Mutation_p.I72T			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	101	Pro-rich.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTTACAGTGTATGATCTCTTT	0.398																																					Ovarian(101;828 1506 2951 9500 35258)											0			X											275	225	242					X																	129822875		2203	4300	6503	129650556	SO:0001583	missense	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.302T>C	X.37:g.129822875A>G	ENSP00000359965:p.Ile101Thr		129650556	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761447	0.69763	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.25	4.07	0.47477	.	0.123265	0.53938	D	0.000058	T	0.68449	0.3002	M	0.73962	2.25	0.45342	D	0.998333	D	0.71674	0.998	P	0.59546	0.859	T	0.67810	-0.5574	8	.	.	.	-16.9648	8.7101	0.34378	0.8278:0.0:0.0:0.1722	.	101	Q16206	ENOX2_HUMAN	T	72;72;101;72;129;101;72	.	.	I	-	2	0	ENOX2	129650556	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.761000	0.91691	0.788000	0.33755	0.486000	0.48141	ATA		0.398	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		G	129822875	A	G	129822875	3	3	156	1	0	0	0	0	1	0	0	0	5127	449	16	4	1574	4	ENOX2	23	129822875	Missense_Mutation	SNP	A	TCGA-13-2065-01A-01D-1526-09	11099341	129822875	25447685	53	8777											
POLR3C	10623	genome.wustl.edu	37	1	145598565	145598565	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr1:145598565G>C	ENST00000334163.3	-	8	1088	c.928C>G	c.(928-930)Cag>Gag	p.Q310E	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.Q310E	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	310					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GTGAGATACTGATCAAGAACT	0.383																																																0			1											148	145	146					1																	145598565		2203	4300	6503	144309922	SO:0001583	missense	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.928C>G	1.37:g.145598565G>C	ENSP00000334564:p.Gln310Glu		144309922	O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	CCDS921.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622525	0.87460	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.50277	0.75;0.75	6.17	6.17	0.99709	RNA polymerase III Rpc82, C -terminal (1);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	M	0.72118	2.19	0.80722	D	1	B;P;D	0.59767	0.289;0.716;0.986	B;B;P	0.59595	0.093;0.289;0.86	T	0.49707	-0.8911	10	0.33141	T	0.24	-19.3325	18.3732	0.90420	0.0:0.0:1.0:0.0	.	310;310;310	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	E	310	ENSP00000334564:Q310E;ENSP00000358300:Q310E	ENSP00000334564:Q310E	Q	-	1	0	POLR3C	144309922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.675000	0.91195	2.941000	0.99782	0.655000	0.94253	CAG		0.383	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		C	145598565	G	C	145598565	3	2	157	1	0	0	0	0	1	0	0	0	12230	1299	45	3	708	3	POLR3C	1	145598565	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09		145598565	103652056	1	8778											
LCE3E	353145	genome.wustl.edu	37	1	152538649	152538649	+	Silent	SNP	G	G	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr1:152538649G>T	ENST00000368789.1	-	2	91	c.36C>A	c.(34-36)ccC>ccA	p.P12P		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	12					keratinization (GO:0031424)					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		ACTTGGGTGGGGGTTGGCACT	0.567																																																0			1											61	66	64					1																	152538649		2203	4300	6503	150805273	SO:0001819	synonymous_variant	353145				CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"Late cornified envelopes"	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.36C>A	1.37:g.152538649G>T			150805273	A2RRM6	Silent	SNP	ENST00000368789.1	37	CCDS1013.1																																																																																				0.567	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435		T	152538649	G	T	152538649	2	4	157	1	0	0	0	0	0	0	0	1	8673	1219	43	3		3	LCE3E	1	152538649	Silent	SNP	G	TCGA-13-2066-01A-01D-1526-09	6940084	152538649	96711972	2	8779											
HMCN1	83872	genome.wustl.edu	37	1	186056441	186056441	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr1:186056441A>T	ENST00000271588.4	+	59	9368	c.9139A>T	c.(9139-9141)Aag>Tag	p.K3047*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K3047*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3047	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGCAAGAAAAAGTTTTCCCT	0.358																																																0			1											143	138	140					1																	186056441		2203	4300	6503	184323064	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9139A>T	1.37:g.186056441A>T	ENSP00000271588:p.Lys3047*		184323064	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	50	16.087740	0.99854	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.84	4.7	0.59300	.	0.394426	0.33040	N	0.005358	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3104	0.60376	0.8683:0.1317:0.0:0.0	.	.	.	.	X	3047	.	ENSP00000271588:K3047X	K	+	1	0	HMCN1	184323064	1.000000	0.71417	0.016000	0.15963	0.167000	0.22549	2.766000	0.47629	0.998000	0.38996	0.533000	0.62120	AAG		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186056441	A	T	186056441	4	4	157	1	0	0	0	0	0	1	0	0	7220	15	1	5	9373	5	HMCN1	1	186056441	Nonsense_Mutation	SNP	A	TCGA-13-2066-01A-01D-1526-09	33517792	186056441	63194180	3	8780											
ATP2B4	493	genome.wustl.edu	37	1	203681241	203681241	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr1:203681241C>T	ENST00000357681.5	+	13	3308	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	ATP2B4_ENST00000367218.3_Missense_Mutation_p.R729W|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R717W|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R729W|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R729W	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	729					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAATTCAACCGGCTCATCCG	0.552																																																0			1											92	88	89					1																	203681241		2203	4300	6503	201947864	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2185C>T	1.37:g.203681241C>T	ENSP00000350310:p.Arg729Trp		201947864	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226966	0.79576	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27	5.64	4.7	0.59300	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.301584	0.23955	N	0.042918	D	0.98337	0.9448	M	0.87827	2.91	0.41067	D	0.985427	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68353	0.957;0.913;0.936	D	0.99097	1.0842	10	0.87932	D	0	-7.9431	12.6582	0.56799	0.3574:0.6426:0.0:0.0	.	729;729;729	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	W	729;729;717;729;729	ENSP00000350310:R729W;ENSP00000356187:R729W;ENSP00000356188:R717W;ENSP00000375816:R729W;ENSP00000340930:R729W	ENSP00000340930:R729W	R	+	1	2	ATP2B4	201947864	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	1.165000	0.31822	1.274000	0.44362	0.650000	0.86243	CGG		0.552	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		T	203681241	C	T	203681241	3	4	157	1	0	0	0	0	1	0	0	0	1142	643	23	1	2231	1	ATP2B4	1	203681241	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09	17624800	203681241	45569380	4	8781											
ABCG8	64241	genome.wustl.edu	37	2	44099244	44099244	+	Missense_Mutation	SNP	C	C	T	rs140778634	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr2:44099244C>T	ENST00000272286.2	+	7	1184	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	365					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAAGCAGAGACGAAGGATCTT	0.547													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		20538	0		0	False		,,,				2504	0															0			2						C	MET/THR	21,4385	29.0+/-57.7	0,21,2182	118	115	116		1094	-6.5	0	2	dbSNP_134	116	0,8600		0,0,4300	yes	missense	ABCG8	NM_022437.2	81	0,21,6482	TT,TC,CC		0.0,0.4766,0.1615	possibly-damaging	365/674	44099244	21,12985	2203	4300	6503	43952748	SO:0001583	missense	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1094C>T	2.37:g.44099244C>T	ENSP00000272286:p.Thr365Met		43952748	Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	CCDS1815.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	11.35	1.612989	0.28712	0.004766	0.0	ENSG00000143921	ENST00000272286	D	0.88509	-2.39	4.9	-6.49	0.01890	.	1.295300	0.04997	N	0.468452	T	0.67306	0.2879	N	0.08118	0	0.09310	N	1	P;P	0.49961	0.93;0.884	P;B	0.44477	0.451;0.264	T	0.67209	-0.5728	10	0.48119	T	0.1	.	1.3222	0.02118	0.3906:0.1544:0.2851:0.1698	.	365;365	Q9H221-2;Q9H221	.;ABCG8_HUMAN	M	365	ENSP00000272286:T365M	ENSP00000272286:T365M	T	+	2	0	ABCG8	43952748	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.975000	0.03790	-0.877000	0.04012	-1.089000	0.02181	ACG		0.547	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		T	44099244	C	T	44099244	3	4	157	1	0	0	0	0	1	0	0	0	72	536	19	1	1120	1	ABCG8	2	44099244	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		44099244	199100129	5	8782											
NUP210	23225	genome.wustl.edu	37	3	13373834	13373834	+	Missense_Mutation	SNP	T	T	C	rs375652396		TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr3:13373834T>C	ENST00000254508.5	-	29	3976	c.3894A>G	c.(3892-3894)atA>atG	p.I1298M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1298					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCGACATTAATATTTGTTCTG	0.483																																																0			3											251	246	247					3																	13373834		2203	4300	6503	13348834	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3894A>G	3.37:g.13373834T>C	ENSP00000254508:p.Ile1298Met		13348834	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	6.954	0.545875	0.13312	.	.	ENSG00000132182	ENST00000254508	T	0.08807	3.05	5.13	-0.51	0.11973	.	0.111526	0.64402	D	0.000017	T	0.11367	0.0277	M	0.80746	2.51	0.46954	D	0.999263	B	0.32245	0.361	B	0.27608	0.081	T	0.09773	-1.0659	10	0.66056	D	0.02	-9.3655	11.547	0.50698	0.0:0.0768:0.6545:0.2687	.	1298	Q8TEM1	PO210_HUMAN	M	1298	ENSP00000254508:I1298M	ENSP00000254508:I1298M	I	-	3	3	NUP210	13348834	0.964000	0.33143	0.046000	0.18839	0.069000	0.16628	0.548000	0.23314	-0.237000	0.09739	-0.461000	0.05368	ATA		0.483	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		C	13373834	T	C	13373834	3	2	157	1	0	0	0	0	1	0	0	0	10760	1396	49	4	1817	4	NUP210	3	13373834	Missense_Mutation	SNP	T	TCGA-13-2066-01A-01D-1526-09		13373834	184648596	6	8783											
ZNF502	91392	genome.wustl.edu	37	3	44763287	44763287	+	Silent	SNP	C	C	T	rs115852283	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr3:44763287C>T	ENST00000296091.4	+	4	1234	c.978C>T	c.(976-978)gaC>gaT	p.D326D	ZNF502_ENST00000436624.2_Silent_p.D326D|ZNF502_ENST00000449836.1_Silent_p.D326D	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATAAATGTGACGAATGTGGGA	0.403													T|||	88	0.0175719	0.0461	0.0187	5008	,	,		21577	0		0.0139	False		,,,				2504	0															0			3						T	,,,	170,4234	796.8+/-415.4	4,162,2036	76	82	80		978,978,978,978	-5.1	0	3	dbSNP_132	80	89,8511	806.4+/-407.2	1,87,4212	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF502	NM_001134440.1,NM_001134441.1,NM_001134442.1,NM_033210.4	,,,	5,249,6248	TT,TC,CC		1.0349,3.8601,1.9917	,,,	326/545,326/545,326/545,326/545	44763287	259,12745	2202	4300	6502	44738291	SO:0001819	synonymous_variant	91392			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.978C>T	3.37:g.44763287C>T			44738291		Silent	SNP	ENST00000296091.4	37	CCDS2719.1	43	0.019688644688644688	23	0.046747967479674794	8	0.022099447513812154	0	0.0	12	0.0158311345646438	T	4.748	0.139015	0.09083	0.038601	0.010349	ENSG00000196653	ENST00000427783	.	.	.	4.27	-5.12	0.02893	.	.	.	.	.	T	0.03434	0.0099	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.22417	-1.0217	5	0.45353	T	0.12	-0.9719	0.9874	0.01449	0.3247:0.2956:0.1105:0.2693	.	.	.	.	M	326	.	ENSP00000397812:T326M	T	+	2	0	ZNF502	44738291	0.000000	0.05858	0.001000	0.08648	0.994000	0.84299	-5.830000	0.00096	-1.051000	0.03226	-0.254000	0.11334	ACG		0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		T	44763287	C	T	44763287	2	4	157	1	0	0	0	0	0	0	0	1	17950	535	19	1		1	ZNF502	3	44763287	Silent	SNP	C	TCGA-13-2066-01A-01D-1526-09	31389453	44763287	153259143	7	8784											
ITGB5	3693	genome.wustl.edu	37	3	124485160	124485160	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr3:124485160A>G	ENST00000296181.4	-	13	2346	c.2050T>C	c.(2050-2052)Tac>Cac	p.Y684H	ITGB5_ENST00000461306.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	684					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GCGGTTTTGTAGAAACATAGC	0.567																																																0			3											104	95	98					3																	124485160		2203	4300	6503	125967850	SO:0001583	missense	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2050T>C	3.37:g.124485160A>G	ENSP00000296181:p.Tyr684His		125967850	B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444536	0.83993	.	.	ENSG00000082781	ENST00000296181	D	0.82984	-1.67	5.1	5.1	0.69264	Integrin beta subunit, tail (2);	0.059747	0.64402	D	0.000001	D	0.91040	0.7181	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.92252	0.5809	10	0.72032	D	0.01	.	15.0452	0.71822	1.0:0.0:0.0:0.0	.	684	P18084	ITB5_HUMAN	H	684	ENSP00000296181:Y684H	ENSP00000296181:Y684H	Y	-	1	0	ITGB5	125967850	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.081000	0.94049	2.140000	0.66376	0.459000	0.35465	TAC		0.567	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		G	124485160	A	G	124485160	3	3	157	1	0	0	0	0	1	0	0	0	7898	420	15	4	361	4	ITGB5	3	124485160	Missense_Mutation	SNP	A	TCGA-13-2066-01A-01D-1526-09	79721873	124485160	73537270	8	8785											
TRIM42	287015	genome.wustl.edu	37	3	140407325	140407325	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr3:140407325G>A	ENST00000286349.3	+	3	1992	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	601						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGATGGCTCTGTGAAGACCCC	0.547																																																0			3											103	102	102					3																	140407325		2203	4300	6503	141890015	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1801G>A	3.37:g.140407325G>A	ENSP00000286349:p.Val601Met		141890015	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044278	0.36085	.	.	ENSG00000155890	ENST00000286349	T	0.39229	1.09	5.52	2.58	0.30949	Fibronectin, type III (2);	0.544950	0.16687	N	0.203705	T	0.21881	0.0527	N	0.08118	0	0.21915	N	0.999471	B	0.11235	0.004	B	0.09377	0.004	T	0.17653	-1.0362	10	0.56958	D	0.05	-42.5528	8.225	0.31564	0.0849:0.2981:0.6169:0.0	.	601	Q8IWZ5	TRI42_HUMAN	M	601	ENSP00000286349:V601M	ENSP00000286349:V601M	V	+	1	0	TRIM42	141890015	0.003000	0.15002	0.946000	0.38457	0.559000	0.35586	-0.093000	0.11111	0.812000	0.34326	0.655000	0.94253	GTG		0.547	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		A	140407325	G	A	140407325	3	1	157	1	0	0	0	0	1	0	0	0	16517	1377	48	2	1811	2	TRIM42	3	140407325	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09	15922165	140407325	57615105	9	8786											
TLL1	7092	genome.wustl.edu	37	4	167012329	167012329	+	Missense_Mutation	SNP	A	A	G	rs147825878		TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr4:167012329A>G	ENST00000061240.2	+	19	3139	c.2492A>G	c.(2491-2493)cAc>cGc	p.H831R	TLL1_ENST00000507499.1_Missense_Mutation_p.H854R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	831	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GCTTATGACCACTTAGAAGTA	0.343																																																0			4						A	ARG/HIS	0,4406		0,0,2203	98	95	96		2492	5.3	1	4	dbSNP_134	96	1,8597	1.2+/-3.3	0,1,4298	no	missense	TLL1	NM_012464.4	29	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	831/1014	167012329	1,13003	2203	4299	6502	167231779	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2492A>G	4.37:g.167012329A>G	ENSP00000061240:p.His831Arg		167231779	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072069	0.76415	0.0	1.16E-4	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.33438	1.41;1.41	5.3	5.3	0.74995	CUB (5);	0.000000	0.85682	U	0.000000	T	0.40094	0.1103	L	0.49455	1.56	0.80722	D	1	D;B	0.53745	0.962;0.324	P;B	0.51170	0.661;0.305	T	0.18587	-1.0332	10	0.46703	T	0.11	.	15.2575	0.73596	1.0:0.0:0.0:0.0	.	854;831	E9PD25;O43897	.;TLL1_HUMAN	R	831;854	ENSP00000061240:H831R;ENSP00000426082:H854R	ENSP00000061240:H831R	H	+	2	0	TLL1	167231779	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.195000	0.94971	2.026000	0.59711	0.383000	0.25322	CAC		0.343	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			G	167012329	A	G	167012329	3	3	157	1	0	0	0	0	1	0	0	0	15945	159	6	4	2566	4	TLL1	4	167012329	Missense_Mutation	SNP	A	TCGA-13-2066-01A-01D-1526-09		167012329	24141947	10	8787											
PLK2	10769	genome.wustl.edu	37	5	57752905	57752905	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr5:57752905G>T	ENST00000274289.3	-	8	1323	c.1023C>A	c.(1021-1023)gaC>gaA	p.D341E	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	341					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		AAGACAGTCTGTCCGGAGTGA	0.413																																																0			5											57	61	60					5																	57752905		2203	4300	6503	57788662	SO:0001583	missense	10769				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1023C>A	5.37:g.57752905G>T	ENSP00000274289:p.Asp341Glu		57788662	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	CCDS3974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.182|9.182	1.023816|1.023816	0.19433|0.19433	.|.	.|.	ENSG00000145632|ENSG00000145632	ENST00000274289;ENST00000537944|ENST00000442330	T|.	0.24538|.	1.85|.	5.28|5.28	1.0|1.0	0.19881|0.19881	Protein kinase-like domain (1);|.	0.143965|.	0.64402|.	D|.	0.000007|.	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.12887|0.12887	0.27|0.27	0.44055|0.44055	D|D	0.996792|0.996792	B|.	0.12013|.	0.005|.	B|.	0.17979|.	0.02|.	T|T	0.05989|0.05989	-1.0852|-1.0852	10|6	0.17369|0.23891	T|T	0.5|0.37	-26.968|-26.968	1.739|1.739	0.02948|0.02948	0.2943:0.219:0.369:0.1177|0.2943:0.219:0.369:0.1177	.|.	341|.	Q9NYY3|.	PLK2_HUMAN|.	E|K	341|327	ENSP00000274289:D341E|.	ENSP00000274289:D341E|ENSP00000401861:T327K	D|T	-|-	3|2	2|0	PLK2|PLK2	57788662|57788662	0.707000|0.707000	0.27866|0.27866	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	-0.070000|-0.070000	0.11523|0.11523	0.625000|0.625000	0.30304|0.30304	0.655000|0.655000	0.94253|0.94253	GAC|ACA		0.413	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		T	57752905	G	T	57752905	3	4	157	1	0	0	0	0	1	0	0	0	12096	1368	48	3	1062	3	PLK2	5	57752905	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09		57752905	123162355	11	8788											
MCC	4163	genome.wustl.edu	37	5	112630026	112630026	+	Splice_Site	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr5:112630026C>T	ENST00000302475.4	-	1	620	c.57G>A	c.(55-57)gaG>gaA	p.E19E	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Intron	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	19					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGTTTCTTACCTCACTCAGCT	0.567																																																0			5											110	110	110					5																	112630026		2202	4300	6502	112657925	SO:0001630	splice_region_variant	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.57+1G>A	5.37:g.112630026C>T			112657925	D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	CCDS4111.1																																																																																				0.567	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	Silent	T	112630026	C	T	112630026	5	4	157	1	0	0	0	0	0	0	1	0	9373	695	24	2	2500	2	MCC	5	112630026	Splice_Site	SNP	C	TCGA-13-2066-01A-01D-1526-09	54877121	112630026	68285234	12	8789											
SNX2	6643	genome.wustl.edu	37	5	122154677	122154677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr5:122154677G>T	ENST00000379516.2	+	11	1279	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	SNX2_ENST00000514949.1_Nonsense_Mutation_p.E274*|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	391					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TATGTTTTCAGAACTACTTAG	0.373																																																0			5											121	110	114					5																	122154677		2203	4300	6503	122182576	SO:0001587	stop_gained	6643			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1171G>T	5.37:g.122154677G>T	ENSP00000368831:p.Glu391*		122182576	B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Nonsense_Mutation	SNP	ENST00000379516.2	37	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	39	7.439339	0.98286	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	.	.	.	5.81	4.94	0.65067	.	0.049406	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.1721	14.9994	0.71459	0.0683:0.0:0.9317:0.0	.	.	.	.	X	391;274	.	ENSP00000368831:E391X	E	+	1	0	SNX2	122182576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.796000	0.99103	1.471000	0.48121	0.655000	0.94253	GAA		0.373	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		T	122154677	G	T	122154677	4	4	157	1	0	0	0	0	0	1	0	0	14894	943	33	3	1213	3	SNX2	5	122154677	Nonsense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09	9524651	122154677	58760583	13	8790											
PCDHGA11	56105	genome.wustl.edu	37	5	140802531	140802531	+	Silent	SNP	G	G	A	rs375881737	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr5:140802531G>A	ENST00000398587.2	+	1	1770	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.A579A|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	579	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCGCTCTG	0.632																																																0			5											92	110	104					5																	140802531		2203	4300	6503	140782715	SO:0001819	synonymous_variant	56105			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1737G>A	5.37:g.140802531G>A			140782715	B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	CCDS47294.1																																																																																				0.632	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		A	140802531	G	A	140802531	2	1	157	1	0	0	0	0	0	0	0	1	11552	1074	38	1		1	PCDHGA11	5	140802531	Silent	SNP	G	TCGA-13-2066-01A-01D-1526-09	18647854	140802531	40112729	14	8791											
SLC35B3	51000	genome.wustl.edu	37	6	8421051	8421051	+	Nonsense_Mutation	SNP	A	A	C			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr6:8421051A>C	ENST00000379660.4	-	6	1034	c.585T>G	c.(583-585)taT>taG	p.Y195*	SLC35B3_ENST00000339306.5_Nonsense_Mutation_p.Y195*	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	195					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					CTGCAACATTATAACGCTTTC	0.413																																					Melanoma(83;700 1353 9357 11478 30548)											0			6											97	95	95					6																	8421051		2203	4300	6503	8366050	SO:0001587	stop_gained	51000			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"Solute carriers"	21601	protein-coding gene	gene with protein product	"3' phosphoadenosine 5' phosphosulfate transporter 2"	610845	"chromosome 6 open reading frame 196", "solute carrier family 35, member B3"	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.585T>G	6.37:g.8421051A>C	ENSP00000368981:p.Tyr195*		8366050	A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Nonsense_Mutation	SNP	ENST00000379660.4	37	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443447	0.83993	.	.	ENSG00000124786	ENST00000379660;ENST00000339306	.	.	.	5.47	-6.23	0.02052	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.8889	17.1722	0.86833	0.7066:0.0:0.2934:0.0	.	.	.	.	X	195	.	.	Y	-	3	2	SLC35B3	8366050	0.003000	0.15002	0.010000	0.14722	0.089000	0.18198	-1.311000	0.02723	-1.219000	0.02597	-1.973000	0.00462	TAT		0.413	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		C	8421051	A	C	8421051	4	2	157	1	0	0	0	0	0	1	0	0	14580	456	16	5	644	5	SLC35B3	6	8421051	Nonsense_Mutation	SNP	A	TCGA-13-2066-01A-01D-1526-09		8421051	162694016	15	8792											
GRIK2	2898	genome.wustl.edu	37	6	102307199	102307199	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr6:102307199C>T	ENST00000421544.1	+	10	1845	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	GRIK2_ENST00000318991.6_Missense_Mutation_p.P452L|GRIK2_ENST00000413795.1_Missense_Mutation_p.P452L|GRIK2_ENST00000369138.1_Missense_Mutation_p.P452L|GRIK2_ENST00000369137.3_Missense_Mutation_p.P452L|GRIK2_ENST00000369134.4_Missense_Mutation_p.P403L	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	452					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCTGACAAACCTCTCTATGGT	0.343																																																0			6											123	117	119					6																	102307199		2203	4300	6503	102413892	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1355C>T	6.37:g.102307199C>T	ENSP00000397026:p.Pro452Leu		102413892	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584494	0.65992	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.91	4.91	0.64330	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.057523	0.64402	D	0.000001	T	0.64338	0.2589	L	0.46741	1.465	0.80722	D	1	B;B;B	0.12630	0.005;0.006;0.005	B;B;B	0.16289	0.013;0.015;0.013	T	0.63051	-0.6723	10	0.42905	T	0.14	.	18.456	0.90721	0.0:1.0:0.0:0.0	.	452;452;452	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	L	452;452;452;452;452;452;403;414;165;51	ENSP00000397026:P452L;ENSP00000405596:P452L;ENSP00000358134:P452L;ENSP00000358133:P452L;ENSP00000313276:P452L;ENSP00000358130:P403L;ENSP00000391988:P165L;ENSP00000407140:P51L	ENSP00000313276:P452L	P	+	2	0	GRIK2	102413892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.377000	0.79668	2.401000	0.81631	0.591000	0.81541	CCT		0.343	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			T	102307199	C	T	102307199	3	4	157	1	0	0	0	0	1	0	0	0	6774	681	24	2	1393	2	GRIK2	6	102307199	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09	93886148	102307199	68807868	16	8793											
LAMA2	3908	genome.wustl.edu	37	6	129794413	129794413	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr6:129794413C>T	ENST00000421865.2	+	52	7404	c.7355C>T	c.(7354-7356)tCg>tTg	p.S2452L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2452	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATAGCAACTTCGTCTTCTGGA	0.328																																																0			6											77	75	76					6																	129794413		2203	4300	6503	129836106	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7355C>T	6.37:g.129794413C>T	ENSP00000400365:p.Ser2452Leu		129836106	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	6.144	0.394853	0.11638	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.79033	-1.23	6.06	2.19	0.27852	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.966112	0.08591	N	0.923053	T	0.45377	0.1339	L	0.47016	1.485	0.09310	N	1	B;B	0.33318	0.408;0.408	B;B	0.20767	0.031;0.031	T	0.24083	-1.0170	9	.	.	.	.	5.2687	0.15613	0.1243:0.5241:0.0:0.3516	.	2453;2452	A6NF00;P24043	.;LAMA2_HUMAN	L	2452;2451;2452;470	ENSP00000400365:S2452L	.	S	+	2	0	LAMA2	129836106	0.000000	0.05858	0.756000	0.31282	0.044000	0.14063	0.053000	0.14184	0.410000	0.25675	-0.136000	0.14681	TCG		0.328	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129794413	C	T	129794413	3	4	157	1	0	0	0	0	1	0	0	0	8606	893	31	1	7561	1	LAMA2	6	129794413	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09	27487214	129794413	41320654	17	8794											
MUC17	140453	genome.wustl.edu	37	7	100680104	100680104	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr7:100680104C>A	ENST00000306151.4	+	3	5471	c.5407C>A	c.(5407-5409)Ctt>Att	p.L1803I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1803	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACCTCGACTCTTAGTGAAGG	0.498																																																0			7											258	261	260					7																	100680104		2203	4300	6503	100466824	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5407C>A	7.37:g.100680104C>A	ENSP00000302716:p.Leu1803Ile		100466824	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.548495	0.00926	.	.	ENSG00000169876	ENST00000306151	T	0.02140	4.43	0.726	-1.45	0.08828	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45775	-0.9238	9	0.33141	T	0.24	.	3.606	0.08042	0.2466:0.2595:0.494:0.0	.	1803	Q685J3	MUC17_HUMAN	I	1803	ENSP00000302716:L1803I	ENSP00000302716:L1803I	L	+	1	0	MUC17	100466824	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.646000	0.05403	-2.390000	0.00586	-1.421000	0.01109	CTT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100680104	C	A	100680104	3	1	157	1	0	0	0	0	1	0	0	0	9974	913	32	3	5417	3	MUC17	7	100680104	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		100680104	58458559	18	8795											
TRIB1	10221	genome.wustl.edu	37	8	126445730	126445730	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr8:126445730C>T	ENST00000520847.1	+	2	288	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000519576.1_5'Flank|TRIB1_ENST00000311922.3_Missense_Mutation_p.R178W					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GAAGAGGCTGCGGGAAGAGGA	0.572																																																0			8											92	95	94					8																	126445730		2203	4300	6503	126514912	SO:0001583	missense	10221			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"tribbles homolog 1 (Drosophila)"			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000520847.1:c.34C>T	8.37:g.126445730C>T	ENSP00000429063:p.Arg12Trp		126514912		Missense_Mutation	SNP	ENST00000520847.1	37		.	.	.	.	.	.	.	.	.	.	C	18.83	3.707244	0.68615	.	.	ENSG00000173334	ENST00000311922;ENST00000520847	T;T	0.74002	-0.8;-0.8	4.82	2.86	0.33363	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29362	U	0.012365	D	0.84960	0.5588	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.87369	0.2349	10	0.87932	D	0	-12.3019	13.8316	0.63384	0.4026:0.5974:0.0:0.0	.	178	Q96RU8	TRIB1_HUMAN	W	178;12	ENSP00000312150:R178W;ENSP00000429063:R12W	ENSP00000312150:R178W	R	+	1	2	TRIB1	126514912	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	0.544000	0.23253	1.143000	0.42306	0.436000	0.28706	CGG		0.572	TRIB1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381431.1	NM_025195		T	126445730	C	T	126445730	3	4	157	1	0	0	0	0	1	0	0	0	16482	759	27	1	538	1	TRIB1	8	126445730	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		126445730	19918292	19	8796											
EFR3A	23167	genome.wustl.edu	37	8	132988321	132988321	+	Missense_Mutation	SNP	A	A	T	rs201002950		TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr8:132988321A>T	ENST00000254624.5	+	11	1432	c.1207A>T	c.(1207-1209)Atg>Ttg	p.M403L	EFR3A_ENST00000519656.1_Missense_Mutation_p.M367L|EFR3A_ENST00000334503.4_Missense_Mutation_p.M403L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	403						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				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)			AGAAATCATGATGTTCATTAT	0.333																																																0			8											96	93	94					8																	132988321		2203	4299	6502	133057503	SO:0001583	missense	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.1207A>T	8.37:g.132988321A>T	ENSP00000254624:p.Met403Leu		133057503	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	7.554	0.663258	0.14710	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.29655	3.64;3.64;1.56	6.01	6.01	0.97437	Armadillo-type fold (1);	0.101814	0.85682	D	0.000000	T	0.22551	0.0544	L	0.31476	0.935	0.50171	D	0.999856	B	0.02656	0.0	B	0.06405	0.002	T	0.08330	-1.0727	10	0.08381	T	0.77	-20.0253	15.7096	0.77615	1.0:0.0:0.0:0.0	.	403	Q14156	EFR3A_HUMAN	L	403;403;403;367	ENSP00000254624:M403L;ENSP00000334769:M403L;ENSP00000428086:M367L	ENSP00000254624:M403L	M	+	1	0	EFR3A	133057503	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.632000	0.67819	2.307000	0.77673	0.528000	0.53228	ATG		0.333	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		T	132988321	A	T	132988321	3	4	157	1	0	0	0	0	1	0	0	0	4958	333	12	5	1249	5	EFR3A	8	132988321	Missense_Mutation	SNP	A	TCGA-13-2066-01A-01D-1526-09	6542591	132988321	13375701	20	8797											
KCNQ3	3786	genome.wustl.edu	37	8	133141816	133141816	+	Missense_Mutation	SNP	G	G	A	rs372002816		TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr8:133141816G>A	ENST00000388996.4	-	15	2732	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.S759L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.S651L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	771					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)			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)	GATTCGGTCCGAGTAGGGGCC	0.612																																																0			8						G	LEU/SER,LEU/SER	0,4406		0,0,2203	44	44	44		1952,2312	4.3	0	8		44	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNQ3	NM_001204824.1,NM_004519.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	651/753,771/873	133141816	1,13005	2203	4300	6503	133210998	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.2312C>T	8.37:g.133141816G>A	ENSP00000373648:p.Ser771Leu		133210998	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	4.269	0.049005	0.08243	0.0	1.16E-4	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	T;T;T	0.45668	0.89;0.89;0.89	5.29	4.33	0.51752	.	0.561536	0.17997	N	0.155003	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.11421	-1.0588	10	0.66056	D	0.02	-0.2105	9.3733	0.38268	0.0816:0.0:0.7632:0.1552	.	759;771	E7ET42;O43525	.;KCNQ3_HUMAN	L	771;651;759;748;650	ENSP00000373648:S771L;ENSP00000429799:S651L;ENSP00000428790:S759L	ENSP00000373648:S771L	S	-	2	0	KCNQ3	133210998	0.065000	0.20965	0.009000	0.14445	0.126000	0.20510	2.115000	0.41921	2.476000	0.83614	0.655000	0.94253	TCG		0.612	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		A	133141816	G	A	133141816	3	1	157	1	0	0	0	0	1	0	0	0	8084	1059	37	1	310	1	KCNQ3	8	133141816	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09	153495	133141816	13222206	21	8798											
CLIC3	9022	genome.wustl.edu	37	9	139889162	139889162	+	Missense_Mutation	SNP	C	C	A	rs149417490	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr9:139889162C>A	ENST00000494426.1	-	6	941	c.682G>T	c.(682-684)Gcc>Tcc	p.A228S	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	228	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCCGGTAGGCCGCCAGGATC	0.657													C|||	40	0.00798722	0.0023	0.0173	5008	,	,		11204	0		0.0189	False		,,,				2504	0.0061															0			9						C	SER/ALA	26,4346		0,26,2160	21	24	23		682	4.2	1	9	dbSNP_134	23	171,8415		1,169,4123	yes	missense	CLIC3	NM_004669.2	99	1,195,6283	AA,AC,CC		1.9916,0.5947,1.5203	benign	228/237	139889162	197,12761	2186	4293	6479	139008983	SO:0001583	missense	9022			AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"Ion channels / Chloride channels : Intracellular"	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.682G>T	9.37:g.139889162C>A	ENSP00000419378:p.Ala228Ser		139008983	Q5SPZ7	Missense_Mutation	SNP	ENST00000494426.1	37	CCDS7021.1	29	0.013278388278388278	3	0.006097560975609756	10	0.027624309392265192	0	0.0	16	0.021108179419525065	C	16.20	3.054834	0.55325	0.005947	0.019916	ENSG00000169583	ENST00000494426	D	0.94046	-3.34	4.15	4.15	0.48705	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.277354	0.35179	N	0.003386	D	0.87111	0.6096	M	0.78916	2.43	0.44523	D	0.99747	P	0.40197	0.706	P	0.48141	0.568	D	0.88502	0.3083	10	0.54805	T	0.06	.	11.4707	0.50266	0.1801:0.8199:0.0:0.0	.	228	O95833	CLIC3_HUMAN	S	228	ENSP00000419378:A228S	ENSP00000419378:A228S	A	-	1	0	CLIC3	139008983	0.955000	0.32602	0.993000	0.49108	0.170000	0.22686	3.410000	0.52664	2.142000	0.66516	0.491000	0.48974	GCC		0.657	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055173.2	NM_004669		A	139889162	C	A	139889162	3	1	157	1	0	0	0	0	1	0	0	0	3527	739	26	3	32	3	CLIC3	9	139889162	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		139889162	1324269	22	8799											
ECHDC3	79746	genome.wustl.edu	37	10	11784633	11784633	+	Missense_Mutation	SNP	C	C	T	rs11558855	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr10:11784633C>T	ENST00000379215.4	+	1	269	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	20						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GTGTCTCCGGCGCGGCCCCTG	0.781													C|||	460	0.091853	0.0424	0.1254	5008	,	,		5907	0.0169		0.17	False		,,,				2504	0.1319															0			10						C	CYS/ARG	141,2883		1,139,1372	2	2	2		58	2	0	10	dbSNP_120	2	838,5418		38,762,2328	no	missense	ECHDC3	NM_024693.4	180	39,901,3700	TT,TC,CC		13.3951,4.6627,10.5496	probably-damaging	20/304	11784633	979,8301	1512	3128	4640	11824639	SO:0001583	missense	79746			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.58C>T	10.37:g.11784633C>T	ENSP00000368517:p.Arg20Cys		11824639	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	ENST00000379215.4	37	CCDS7084.1	266	0.12179487179487179	44	0.08943089430894309	44	0.12154696132596685	31	0.05419580419580419	147	0.19393139841688653	C	16.93	3.258520	0.59321	0.046627	0.133951	ENSG00000134463	ENST00000379215;ENST00000420401	T;T	0.73258	-0.14;-0.73	4.08	2.03	0.26663	.	0.616622	0.16841	N	0.197355	T	0.00144	0.0004	L	0.29908	0.895	0.80722	P	0.0	D	0.69078	0.997	B	0.44315	0.446	T	0.04307	-1.0961	9	0.62326	D	0.03	.	7.364	0.26762	0.1877:0.6294:0.1829:0.0	rs11558855	20	Q96DC8	ECHD3_HUMAN	C	20	ENSP00000368517:R20C;ENSP00000405584:R20C	ENSP00000368517:R20C	R	+	1	0	ECHDC3	11824639	0.021000	0.18746	0.013000	0.15412	0.002000	0.02628	0.149000	0.16243	0.834000	0.34852	-0.326000	0.08463	CGC		0.781	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		T	11784633	C	T	11784633	3	4	157	1	0	0	0	0	1	0	0	0	4895	768	27	1	60	1	ECHDC3	10	11784633	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		11784633	123750114	23	8800											
RET	5979	genome.wustl.edu	37	10	43612144	43612144	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr10:43612144C>T	ENST00000355710.3	+	12	2481	c.2249C>T	c.(2248-2250)gCa>gTa	p.A750V	RET_ENST00000340058.5_Missense_Mutation_p.A750V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			A -> G (in Ref. 9; AAA36524). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AAAGGCAGAGCAGGGTACACC	0.592		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0			10											120	127	125					10																	43612144		2203	4300	6503	42932150	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2249C>T	10.37:g.43612144C>T	ENSP00000347942:p.Ala750Val		42932150	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288383	0.95517	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.83075	-1.68;-1.68	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047585	0.85682	D	0.000000	D	0.83303	0.5225	L	0.38953	1.18	0.80722	D	1	P;D;D	0.57899	0.785;0.972;0.981	B;P;P	0.50109	0.391;0.631;0.575	D	0.84560	0.0649	10	0.59425	D	0.04	.	19.7216	0.96145	0.0:1.0:0.0:0.0	.	496;750;750	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	750	ENSP00000347942:A750V;ENSP00000344798:A750V	ENSP00000344798:A750V	A	+	2	0	RET	42932150	1.000000	0.71417	0.947000	0.38551	0.997000	0.91878	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCA		0.592	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43612144	C	T	43612144	3	4	157	1	0	0	0	0	1	0	0	0	13238	710	25	2	2295	2	RET	10	43612144	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09	31827511	43612144	91922603	24	8801											
FANCF	2188	genome.wustl.edu	37	11	22646800	22646800	+	Missense_Mutation	SNP	G	G	A	rs113910234	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr11:22646800G>A	ENST00000327470.3	-	1	587	c.557C>T	c.(556-558)gCc>gTc	p.A186V	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	186					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GAGAAACCTGGCGGGACGCTC	0.622			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	26	0.00519169	0	0.0058	5008	,	,		14439	0.001		0.005	False		,,,				2504	0.0164					yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	0			11						G	VAL/ALA	2,4404	2.1+/-5.4	0,2,2201	58	68	65		557	1.8	0	11	dbSNP_132	65	72,8528	42.6+/-100.3	0,72,4228	yes	missense	FANCF	NM_022725.3	64	0,74,6429	AA,AG,GG		0.8372,0.0454,0.569	benign	186/375	22646800	74,12932	2203	4300	6503	22603376	SO:0001583	missense	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.557C>T	11.37:g.22646800G>A	ENSP00000330875:p.Ala186Val	757	22603376	Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	CCDS7857.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	G	11.21	1.572775	0.28092	4.54E-4	0.008372	ENSG00000183161	ENST00000327470	T	0.31247	1.5	4.87	1.82	0.25136	.	2.075460	0.01813	N	0.033578	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	1	B	0.19935	0.04	B	0.25614	0.062	T	0.20773	-1.0265	10	0.13108	T	0.6	-0.0561	9.4974	0.38997	0.0:0.503:0.4183:0.0787	.	186	Q9NPI8	FANCF_HUMAN	V	186	ENSP00000330875:A186V	ENSP00000330875:A186V	A	-	2	0	FANCF	22603376	0.000000	0.05858	0.005000	0.12908	0.012000	0.07955	0.410000	0.21098	0.656000	0.30886	-1.083000	0.02208	GCC		0.622	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		A	22646800	G	A	22646800	3	1	157	1	0	0	0	0	1	0	0	0	5667	1203	42	2	571	2	FANCF	11	22646800	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09		22646800	112359716	25	8802											
OR4P4	81300	genome.wustl.edu	37	11	55406022	55406022	+	Nonsense_Mutation	SNP	C	C	G	rs76160133	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr11:55406022C>G	ENST00000314612.2	+	1	189	c.189C>G	c.(187-189)taC>taG	p.Y63*		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCCTCAATTACCTCTCACTCT	0.403													c|||	1428	0.285144	0.0968	0.2968	5008	,	,		14249	0.4563		0.165	False		,,,				2504	0.4785															0			11						C	stop/TYR	475,3887		79,317,1785	176	151	160		189	1.1	0.2	11	dbSNP_131	160	1193,6873		309,575,3149	yes	stop-gained	OR4P4	NM_001004124.1		388,892,4934	GG,GC,CC		14.7905,10.8895,13.4213		63/313	55406022	1668,10760	2181	4033	6214	55162598	SO:0001587	stop_gained	81300			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.189C>G	11.37:g.55406022C>G	ENSP00000324831:p.Tyr63*		55162598		Nonsense_Mutation	SNP	ENST00000314612.2	37	CCDS31504.1	411	0.18818681318681318	36	0.07317073170731707	76	0.20994475138121546	211	0.3688811188811189	88	0.11609498680738786	C	9.130	1.011142	0.19277	0.108895	0.147905	ENSG00000181927	ENST00000314612	.	.	.	5.18	1.15	0.20763	.	0.212673	0.23912	N	0.043330	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5722	5.6068	0.17385	0.0:0.5623:0.1312:0.3066	.	.	.	.	X	63	.	ENSP00000324831:Y63X	Y	+	3	2	OR4P4	55162598	0.000000	0.05858	0.215000	0.23724	0.045000	0.14185	-1.856000	0.01662	-0.045000	0.13468	-0.170000	0.13304	TAC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		G	55406022	C	G	55406022	4	3	157	1	0	0	0	0	0	1	0	0	11080	518	18	3	191	3	OR4P4	11	55406022	Nonsense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09	32759222	55406022	79600494	26	8803											
OR5AN1	390195	genome.wustl.edu	37	11	59132147	59132147	+	Silent	SNP	C	C	G			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr11:59132147C>G	ENST00000313940.2	+	1	263	c.216C>G	c.(214-216)gtC>gtG	p.V72V		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCATAGATGTCTGCTATATCA	0.423																																																0			11											186	177	180					11																	59132147		2201	4295	6496	58888723	SO:0001819	synonymous_variant	390195			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.216C>G	11.37:g.59132147C>G			58888723	B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	CCDS31559.1																																																																																				0.423	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		G	59132147	C	G	59132147	2	3	157	1	0	0	0	0	0	0	0	1	11143	900	32	3		3	OR5AN1	11	59132147	Silent	SNP	C	TCGA-13-2066-01A-01D-1526-09	3726125	59132147	75874369	27	8804											
KCTD21	283219	genome.wustl.edu	37	11	77885210	77885210	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr11:77885210G>A	ENST00000340067.3	-	2	669	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	131					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TAGATCTGGGGTGCCTCGCGC	0.557																																																0			11											134	111	119					11																	77885210		2200	4292	6492	77562858	SO:0001583	missense	283219			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 21"			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.391C>T	11.37:g.77885210G>A	ENSP00000339340:p.Pro131Ser		77562858	B4DTR0	Missense_Mutation	SNP	ENST00000340067.3	37	CCDS31645.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767725	0.49574	.	.	ENSG00000188997	ENST00000340067;ENST00000526208;ENST00000525447	T;T;T	0.56103	0.48;0.64;0.74	6.03	6.03	0.97812	.	0.000000	0.56097	D	0.000028	T	0.57725	0.2073	L	0.27053	0.805	0.45318	D	0.998317	D	0.89917	1.0	D	0.69307	0.963	T	0.44802	-0.9304	10	0.07644	T	0.81	.	18.7374	0.91761	0.0:0.0:1.0:0.0	.	131	Q4G0X4	KCD21_HUMAN	S	131	ENSP00000339340:P131S;ENSP00000431789:P131S;ENSP00000434174:P131S	ENSP00000339340:P131S	P	-	1	0	KCTD21	77562858	1.000000	0.71417	0.980000	0.43619	0.870000	0.49936	6.704000	0.74639	2.861000	0.98227	0.655000	0.94253	CCC		0.557	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		A	77885210	G	A	77885210	3	1	157	1	0	0	0	0	1	0	0	0	8109	1261	44	2	395	2	KCTD21	11	77885210	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09	18753063	77885210	57121306	28	8805											
C12orf35	55196	genome.wustl.edu	37	12	32136831	32136831	+	Missense_Mutation	SNP	C	C	T	rs74831632	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr12:32136831C>T	ENST00000312561.4	+	4	3356	c.2942C>T	c.(2941-2943)tCa>tTa	p.S981L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	981																	CCCTTAGAGTCATCTTTTAAC	0.368													C|||	32	0.00638978	0.0227	0.0029	5008	,	,		21733	0		0	False		,,,				2504	0															0			12						C	LEU/SER	70,4336	59.9+/-96.7	1,68,2134	48	52	51		2942	3.5	0	12	dbSNP_131	51	1,8597	1.2+/-3.3	0,1,4298	yes	missense	C12orf35	NM_018169.3	145	1,69,6432	TT,TC,CC		0.0116,1.5887,0.546	benign	981/1748	32136831	71,12933	2203	4299	6502	32028098	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2942C>T	12.37:g.32136831C>T	ENSP00000310338:p.Ser981Leu		32028098	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	C	9.776	1.173997	0.21704	0.015887	1.16E-4	ENSG00000174718	ENST00000312561	T	0.14266	2.52	5.37	3.53	0.40419	.	2.494330	0.01461	N	0.015876	T	0.05364	0.0142	N	0.17474	0.49	0.09310	N	1	B	0.25390	0.125	B	0.21917	0.037	T	0.34153	-0.9840	9	.	.	.	.	10.5656	0.45171	0.0:0.8459:0.0:0.1541	.	981	Q9HCM1	CL035_HUMAN	L	981	ENSP00000310338:S981L	.	S	+	2	0	C12orf35	32028098	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.696000	0.05104	0.735000	0.32537	0.655000	0.94253	TCA		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		T	32136831	C	T	32136831	3	4	157	1	0	0	0	0	1	0	0	0	1682	838	29	2	2944	2	C12orf35	12	32136831	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		32136831	101715064	29	8806											
F10	2159	genome.wustl.edu	37	13	113803622	113803622	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr13:113803622G>A	ENST00000375559.3	+	8	1296	c.1258G>A	c.(1258-1260)Ggg>Agg	p.G420R	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	420	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> R (in FA10D; Padua 3). {ECO:0000269|PubMed:11728527}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGGGGACAGCGGGGGCCCGCA	0.617																																																0			13	GRCh37	CM014703	F10	M							65	71	69					13																	113803622		2203	4300	6503	112851623	SO:0001583	missense	2159				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1258G>A	13.37:g.113803622G>A	ENSP00000364709:p.Gly420Arg		112851623	Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940763	0.73557	.	.	ENSG00000126218	ENST00000375559	D	0.99871	-7.35	5.38	5.38	0.77491	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99935	0.9971	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95774	0.8811	10	0.87932	D	0	.	19.1515	0.93491	0.0:0.0:1.0:0.0	.	420	P00742	FA10_HUMAN	R	420	ENSP00000364709:G420R	ENSP00000364709:G420R	G	+	1	0	F10	112851623	1.000000	0.71417	0.911000	0.35937	0.194000	0.23727	9.658000	0.98594	2.514000	0.84764	0.655000	0.94253	GGG		0.617	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			A	113803622	G	A	113803622	3	1	157	1	0	0	0	0	1	0	0	0	5336	1116	39	1	1288	1	F10	13	113803622	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09		113803622	1366256	30	8807											
DEGS2	123099	genome.wustl.edu	37	14	100615945	100615945	+	Missense_Mutation	SNP	C	C	T	rs367704730		TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr14:100615945C>T	ENST00000305631.5	-	2	760	c.185G>A	c.(184-186)cGc>cAc	p.R62H	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GGCCAGCCCGCGCACCAGCCA	0.677																																																0			14						C	HIS/ARG	0,4382		0,0,2191	21	23	22		185	-0.3	0.3	14		22	1,8555		0,1,4277	no	missense	DEGS2	NM_206918.2	29	0,1,6468	TT,TC,CC		0.0117,0.0,0.0077	benign	62/324	100615945	1,12937	2191	4278	6469	99685698	SO:0001583	missense	123099				CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.185G>A	14.37:g.100615945C>T	ENSP00000307126:p.Arg62His		99685698		Missense_Mutation	SNP	ENST00000305631.5	37	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320480	0.23994	0.0	1.17E-4	ENSG00000168350	ENST00000305631	T	0.32988	1.43	4.4	-0.29	0.12847	.	0.552818	0.19167	N	0.121045	T	0.19886	0.0478	L	0.35542	1.07	0.30155	N	0.802687	B	0.11235	0.004	B	0.04013	0.001	T	0.14200	-1.0481	10	0.34782	T	0.22	-11.2954	9.4389	0.38657	0.0:0.5327:0.0:0.4673	.	62	Q6QHC5	DEGS2_HUMAN	H	62	ENSP00000307126:R62H	ENSP00000307126:R62H	R	-	2	0	DEGS2	99685698	0.002000	0.14202	0.303000	0.25071	0.741000	0.42261	-0.024000	0.12435	0.087000	0.17167	-0.291000	0.09656	CGC		0.677	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		T	100615945	C	T	100615945	3	4	157	1	0	0	0	0	1	0	0	0	4423	768	27	1	794	1	DEGS2	14	100615945	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		100615945	6733595	31	8808											
ATP10A	57194	genome.wustl.edu	37	15	25972310	25972310	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr15:25972310C>T	ENST00000356865.6	-	4	955	c.844G>A	c.(844-846)Gca>Aca	p.A282T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	282					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGCCTACCTGCGTAGATGACA	0.527																																																0			15											106	83	91					15																	25972310		2203	4300	6503	23523403	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.844G>A	15.37:g.25972310C>T	ENSP00000349325:p.Ala282Thr		23523403	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472719	0.96274	.	.	ENSG00000206190	ENST00000356865	D	0.88277	-2.36	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	L	0.33137	0.985	0.80722	D	1	D	0.56521	0.976	P	0.51895	0.683	D	0.85362	0.1108	10	0.20046	T	0.44	.	19.0349	0.92972	0.0:1.0:0.0:0.0	.	282	O60312	AT10A_HUMAN	T	282	ENSP00000349325:A282T	ENSP00000349325:A282T	A	-	1	0	ATP10A	23523403	1.000000	0.71417	0.965000	0.40720	0.843000	0.47879	7.193000	0.77780	2.513000	0.84729	0.563000	0.77884	GCA		0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		T	25972310	C	T	25972310	3	4	157	1	0	0	0	0	1	0	0	0	1116	768	27	1	3727	1	ATP10A	15	25972310	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		25972310	76559082	32	8809											
HAPLN3	145864	genome.wustl.edu	37	15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GACACGCACACGCCGCGGGGA	0.657																																																0			15											73	70	71					15																	89424833		2200	4299	6499	87225837	SO:0001583	missense	145864			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.248G>A	15.37:g.89424833C>T	ENSP00000352606:p.Arg83His		87225837	A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	4.290	0.052971	0.08291	.	.	ENSG00000140511	ENST00000359595	T	0.64991	-0.13	4.22	1.13	0.20643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.478425	0.18864	N	0.129039	T	0.38692	0.1050	N	0.11927	0.2	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21546	0.035;0.035	T	0.19484	-1.0304	10	0.37606	T	0.19	-2.6237	7.3451	0.26658	0.0:0.2601:0.2903:0.4496	.	83;83	A8K7T8;Q96S86	.;HPLN3_HUMAN	H	83	ENSP00000352606:R83H	ENSP00000352606:R83H	R	-	2	0	HAPLN3	87225837	0.540000	0.26410	0.013000	0.15412	0.006000	0.05464	0.918000	0.28678	-0.072000	0.12864	-0.823000	0.03104	CGT		0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		T	89424833	C	T	89424833	3	4	157	1	0	0	0	0	1	0	0	0	6956	536	19	1	846	1	HAPLN3	15	89424833	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09	63452523	89424833	13106559	33	8810											
ABCA3	21	genome.wustl.edu	37	16	2348448	2348448	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr16:2348448G>A	ENST00000301732.5	-	15	2535	c.1835C>T	c.(1834-1836)cCg>cTg	p.P612L	ABCA3_ENST00000382381.3_Missense_Mutation_p.P554L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	612	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GTCGTGCTGCGGGCACAGGCC	0.582																																																0			16											133	126	128					16																	2348448		2198	4300	6498	2288449	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1835C>T	16.37:g.2348448G>A	ENSP00000301732:p.Pro612Leu		2288449	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627919	0.66901	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.94184	-3.37	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96661	0.8910	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	D	0.95006	0.8147	10	0.33141	T	0.24	.	19.4575	0.94900	0.0:0.0:1.0:0.0	.	612;616;612	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	L	612;616	ENSP00000301732:P612L	ENSP00000301732:P612L	P	-	2	0	ABCA3	2288449	1.000000	0.71417	0.973000	0.42090	0.011000	0.07611	8.027000	0.88791	2.941000	0.99782	0.655000	0.94253	CCG		0.582	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		A	2348448	G	A	2348448	3	1	157	1	0	0	0	0	1	0	0	0	33	1116	39	1	3355	1	ABCA3	16	2348448	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09		2348448	88006305	34	8811											
COQ9	57017	genome.wustl.edu	37	16	57486726	57486726	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr16:57486726G>A	ENST00000262507.6	+	3	325	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	COQ9_ENST00000567072.1_Missense_Mutation_p.G86S|COQ9_ENST00000567933.1_Missense_Mutation_p.G86S|COQ9_ENST00000567384.1_3'UTR	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	86					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TACAGACCAGGGCGGCGAGGA	0.577																																																0			16											122	106	112					16																	57486726		2198	4300	6498	56044227	SO:0001583	missense	57017			BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.256G>A	16.37:g.57486726G>A	ENSP00000262507:p.Gly86Ser		56044227	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	G	5.412	0.261268	0.10239	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.2	4.19	0.49359	.	0.607246	0.18487	N	0.139761	T	0.25344	0.0616	L	0.28344	0.845	0.23787	N	0.996849	B;B;B;B;B	0.29162	0.003;0.235;0.047;0.001;0.047	B;B;B;B;B	0.31812	0.009;0.136;0.019;0.003;0.015	T	0.27468	-1.0073	9	0.05525	T	0.97	-5.9147	8.0564	0.30608	0.1372:0.0:0.8628:0.0	.	86;86;86;86;86	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	S	86	.	ENSP00000262507:G86S	G	+	1	0	COQ9	56044227	1.000000	0.71417	0.914000	0.36105	0.247000	0.25773	4.176000	0.58269	1.006000	0.39211	0.650000	0.86243	GGC		0.577	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		A	57486726	G	A	57486726	3	1	157	1	0	0	0	0	1	0	0	0	3751	1232	43	2	266	2	COQ9	16	57486726	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09	55138278	57486726	32868027	35	8812											
CDH7	1005	genome.wustl.edu	37	18	63547744	63547744	+	Missense_Mutation	SNP	G	G	A	rs116566190	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr18:63547744G>A	ENST00000397968.2	+	12	2398	c.1972G>A	c.(1972-1974)Ggg>Agg	p.G658R	CDH7_ENST00000323011.3_Missense_Mutation_p.G658R	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	658					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACGAGGGCGGGGGAGAGGA	0.488																																																0			18											70	72	71					18																	63547744		2203	4300	6503	61698724	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1972G>A	18.37:g.63547744G>A	ENSP00000381058:p.Gly658Arg		61698724	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988557	0.53934	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	D;D	0.82255	-1.59;-1.59	5.61	5.61	0.85477	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93585	0.7952	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94407	0.7628	10	0.66056	D	0.02	.	19.6378	0.95744	0.0:0.0:1.0:0.0	.	658	Q9ULB5	CADH7_HUMAN	R	658	ENSP00000319166:G658R;ENSP00000381058:G658R	ENSP00000319166:G658R	G	+	1	0	CDH7	61698724	1.000000	0.71417	0.455000	0.27031	0.068000	0.16541	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GGG		0.488	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		A	63547744	G	A	63547744	3	1	157	1	0	0	0	0	1	0	0	0	3115	1116	39	1	2014	1	CDH7	18	63547744	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09		63547744	14529504	36	8813											
NWD1	284434	genome.wustl.edu	37	19	16918641	16918641	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr19:16918641C>G	ENST00000552788.1	+	16	3981	c.3981C>G	c.(3979-3981)atC>atG	p.I1327M	NWD1_ENST00000339803.6_Missense_Mutation_p.I1192M|NWD1_ENST00000549814.1_Missense_Mutation_p.I1285M|NWD1_ENST00000523826.1_Missense_Mutation_p.I1121M|NWD1_ENST00000379808.3_Missense_Mutation_p.I1327M|NWD1_ENST00000524140.2_Missense_Mutation_p.I1327M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1327							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCTGGACATCACCTCCGGGG	0.617																																																0			19											90	77	82					19																	16918641		2203	4300	6503	16779641	SO:0001583	missense	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3981C>G	19.37:g.16918641C>G	ENSP00000447224:p.Ile1327Met		16779641	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	C	10.14	1.269708	0.23221	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.71817	-0.31;-0.6;-0.31;2.15;1.45;2.15	4.95	-0.404	0.12396	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.283823	0.32987	N	0.005406	T	0.72120	0.3421	L	0.54323	1.7	0.26606	N	0.972932	D;D;D	0.67145	0.974;0.996;0.993	P;D;P	0.65010	0.694;0.931;0.855	T	0.61392	-0.7072	10	0.41790	T	0.15	-20.921	4.9163	0.13847	0.0:0.4687:0.1564:0.3748	.	1327;1327;1192	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	1192;1327;1285;1327;1121;1327;1192	ENSP00000428579:I1327M;ENSP00000447548:I1285M;ENSP00000369136:I1327M;ENSP00000428955:I1121M;ENSP00000447224:I1327M;ENSP00000340159:I1192M	ENSP00000340159:I1192M	I	+	3	3	NWD1	16779641	0.625000	0.27111	0.397000	0.26308	0.013000	0.08279	0.501000	0.22578	0.123000	0.18342	-0.136000	0.14681	ATC		0.617	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		G	16918641	C	G	16918641	3	3	157	1	0	0	0	0	1	0	0	0	10781	816	29	3	3630	3	NWD1	19	16918641	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		16918641	42210342	37	8814											
SCRT2	85508	genome.wustl.edu	37	20	656181	656181	+	Missense_Mutation	SNP	G	G	A	rs76595598	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr20:656181G>A	ENST00000246104.6	-	1	642	c.65C>T	c.(64-66)gCc>gTc	p.A22V	RP5-850E9.3_ENST00000488788.2_Missense_Mutation_p.A22V	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	22					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						GTAGGTGGGGGCCGGCACCCC	0.746													G|||	174	0.0347444	0.0219	0.036	5008	,	,		9468	0.001		0.0944	False		,,,				2504	0.0245															0			20						G	VAL/ALA	158,4136		5,148,1994	6	8	8		65	2.2	1	20	dbSNP_131	8	750,7640		32,686,3477	yes	missense	SCRT2	NM_033129.3	64	37,834,5471	AA,AG,GG		8.9392,3.6796,7.1586	possibly-damaging	22/308	656181	908,11776	2147	4195	6342	604181	SO:0001583	missense	85508				CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"Zinc fingers, C2H2-type"	15952	protein-coding gene	gene with protein product			"scratch (drosophila homolog) 2, zinc finger protein", "scratch homolog 2, zinc finger protein (Drosophila)"			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.65C>T	20.37:g.656181G>A	ENSP00000246104:p.Ala22Val		604181		Missense_Mutation	SNP	ENST00000246104.6	37	CCDS13006.1	106	0.048534798534798536	7	0.014227642276422764	16	0.04419889502762431	3	0.005244755244755245	80	0.10554089709762533	G	14.23	2.472889	0.43942	0.036796	0.089392	ENSG00000215397	ENST00000246104	T	0.09255	3.0	4.24	2.18	0.27775	.	0.425364	0.19905	U	0.103422	T	0.00178	0.0005	L	0.43152	1.355	0.38947	P	0.04172100000000001	B	0.28470	0.213	B	0.18871	0.023	T	0.23940	-1.0174	9	0.37606	T	0.19	-7.6146	6.9152	0.24355	0.0:0.1932:0.6071:0.1997	.	22	Q9NQ03	SCRT2_HUMAN	V	22	ENSP00000246104:A22V	ENSP00000246104:A22V	A	-	2	0	SCRT2	604181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.401000	0.44513	0.370000	0.24538	0.484000	0.47621	GCC		0.746	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	NM_033129		A	656181	G	A	656181	3	1	157	1	0	0	0	0	1	0	0	0	13945	1203	42	2	866	2	SCRT2	20	656181	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09		656181	62369339	38	8815											
CDH22	64405	genome.wustl.edu	37	20	44856216	44856216	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr20:44856216C>T	ENST00000372262.3	-	3	1001	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	CDH22_ENST00000537909.1_Missense_Mutation_p.G201S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCGCTGCTGCCGTACGTGGGG	0.701																																																0			20											33	28	29					20																	44856216		2202	4299	6501	44289623	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.601G>A	20.37:g.44856216C>T	ENSP00000361336:p.Gly201Ser		44289623	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593874	0.96602	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.55588	0.51;0.51	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79928	-0.1596	10	0.66056	D	0.02	.	17.4676	0.87638	0.0:1.0:0.0:0.0	.	201	Q9UJ99	CAD22_HUMAN	S	201	ENSP00000361336:G201S;ENSP00000437790:G201S	ENSP00000361336:G201S	G	-	1	0	CDH22	44289623	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	7.646000	0.83445	2.586000	0.87340	0.563000	0.77884	GGC		0.701	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		T	44856216	C	T	44856216	3	4	157	1	0	0	0	0	1	0	0	0	3107	652	23	1	1921	1	CDH22	20	44856216	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09	44200035	44856216	18169304	39	8816											
HMGXB4	10042	genome.wustl.edu	37	22	35660878	35660878	+	Missense_Mutation	SNP	C	C	G	rs534928094		TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr22:35660878C>G	ENST00000216106.5	+	5	625	c.497C>G	c.(496-498)tCc>tGc	p.S166C	HMGXB4_ENST00000444518.2_Missense_Mutation_p.S57C	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	166					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATGGTGGCTCCCACAAATCG	0.458																																																0			22											77	78	78					22																	35660878		2203	4300	6503	33990878	SO:0001583	missense	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.497C>G	22.37:g.35660878C>G	ENSP00000216106:p.Ser166Cys		33990878	O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019288	0.35606	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.58	2.13	0.27403	.	0.461317	0.26563	N	0.023664	T	0.27866	0.0686	N	0.08118	0	0.24931	N	0.991917	B	0.09022	0.002	B	0.08055	0.003	T	0.19877	-1.0292	10	0.72032	D	0.01	-1.1458	6.2401	0.20785	0.1203:0.6478:0.1173:0.1147	.	166	Q9UGU5	HMGX4_HUMAN	C	57;57;57;166	ENSP00000401658:S57C;ENSP00000398302:S57C;ENSP00000415500:S57C;ENSP00000216106:S166C	ENSP00000216106:S166C	S	+	2	0	HMGXB4	33990878	0.559000	0.26562	0.900000	0.35374	0.939000	0.58152	0.842000	0.27627	1.458000	0.47871	0.557000	0.71058	TCC		0.458	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		G	35660878	C	G	35660878	3	3	157	1	0	0	0	0	1	0	0	0	7239	855	30	3	511	3	HMGXB4	22	35660878	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09		35660878	15643688	40	8817											
MYH9	4627	genome.wustl.edu	37	22	36698623	36698623	+	Silent	SNP	G	G	A			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr22:36698623G>A	ENST00000216181.5	-	20	2720	c.2490C>T	c.(2488-2490)ctC>ctT	p.L830L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	830					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTTGGTGAAGAGCCGCCACC	0.562			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0			22											69	67	67					22																	36698623		2203	4300	6503	35028569	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2490C>T	22.37:g.36698623G>A			35028569	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	CCDS13927.1																																																																																				0.562	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		A	36698623	G	A	36698623	2	1	157	1	0	0	0	0	0	0	0	1	10042	929	33	2		2	MYH9	22	36698623	Silent	SNP	G	TCGA-13-2066-01A-01D-1526-09	1037745	36698623	14605943	41	8818											
TUBGCP6	85378	genome.wustl.edu	37	22	50659598	50659598	+	Missense_Mutation	SNP	C	C	T	rs149231425	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chr22:50659598C>T	ENST00000248846.5	-	16	3294	c.3190G>A	c.(3190-3192)Ggg>Agg	p.G1064R	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.G1064R|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1064	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACATTCTCCCCGACCCTGATG	0.607													C|||	66	0.0131789	0.0015	0.0259	5008	,	,		23347	0		0.0408	False		,,,				2504	0.0051															0			22						C	ARG/GLY	24,4382	31.7+/-61.6	0,24,2179	135	137	136		3190	3.1	0.9	22	dbSNP_134	136	240,8360	97.0+/-158.7	4,232,4064	no	missense	TUBGCP6	NM_020461.3	125	4,256,6243	TT,TC,CC		2.7907,0.5447,2.0298	probably-damaging	1064/1820	50659598	264,12742	2203	4300	6503	49001725	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3190G>A	22.37:g.50659598C>T	ENSP00000248846:p.Gly1064Arg		49001725	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	36	0.016483516483516484	1	0.0020325203252032522	14	0.03867403314917127	0	0.0	21	0.027704485488126648	C	18.10	3.549414	0.65311	0.005447	0.027907	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.20069	2.46;2.1	4.2	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	L	0.59436	1.845	0.50171	D	0.999851	D;P;D	0.89917	1.0;0.948;1.0	D;P;D	0.91635	0.999;0.597;0.999	T	0.01894	-1.1252	10	0.45353	T	0.12	.	13.7504	0.62904	0.0:0.8442:0.1558:0.0	.	1056;1064;1064	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	R	1064	ENSP00000248846:G1064R;ENSP00000397387:G1064R	ENSP00000248846:G1064R	G	-	1	0	TUBGCP6	49001725	0.730000	0.28100	0.882000	0.34594	0.145000	0.21501	3.255000	0.51484	2.283000	0.76528	0.655000	0.94253	GGG		0.607	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		T	50659598	C	T	50659598	3	4	157	1	0	0	0	0	1	0	0	0	16770	652	23	1	2309	1	TUBGCP6	22	50659598	Missense_Mutation	SNP	C	TCGA-13-2066-01A-01D-1526-09	13960975	50659598	644968	42	8819											
IL3RA	3563	genome.wustl.edu	37	X	1497644	1497644	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chrX:1497644G>C	ENST00000331035.4	+	10	1316	c.967G>C	c.(967-969)Gtg>Ctg	p.V323L	IL3RA_ENST00000381469.2_Missense_Mutation_p.V245L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	323			V -> L (in dbSNP:rs17883366). {ECO:0000269|Ref.5}.		cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGTGTCTTCGTGATCTGCAG	0.592													g|||	525	0.104832	0.0378	0.1297	5008	,	,		16681	0.0694		0.2058	False		,,,				2504	0.1104															0			X							LEU/VAL	293,4109		12,269,1920	130	106	114		967	-1.6	0	X	dbSNP_134	114	1580,7012		144,1292,2860	no	missense	IL3RA	NM_002183.2	32	156,1561,4780	CC,CG,GG		18.3892,6.6561,14.4143	benign	323/379	1497644	1873,11121	2201	4296	6497	1457644	SO:0001583	missense	3563			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.967G>C	X.37:g.1497644G>C	ENSP00000327890:p.Val323Leu		1457644	A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	CCDS14113.1	283	0.1295787545787546	21	0.042682926829268296	54	0.14917127071823205	53	0.09265734265734266	155	0.20448548812664907	.	0	-2.808565	0.00074	0.066561	0.183892	ENSG00000185291	ENST00000331035;ENST00000381469	T;D	0.96522	1.74;-4.04	0.798	-1.6	0.08426	.	0.471891	0.15240	N	0.272951	T	0.00271	0.0008	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.51957	-0.8639	9	0.06757	T	0.87	.	.	.	.	.	244;323	P26951-2;P26951	.;IL3RA_HUMAN	L	323;245	ENSP00000327890:V323L;ENSP00000370878:V245L	ENSP00000327890:V323L	V	+	1	0	IL3RA	1457644	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.991000	0.03728	-2.554000	0.00477	-2.540000	0.00180	GTG		0.592	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			C	1497644	G	C	1497644	3	2	157	1	0	0	0	0	1	0	0	0	7695	1145	40	3	1001	3	IL3RA	23	1497644	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09		1497644	153772916	43	8820											
ASMT	438	genome.wustl.edu	37	X	1755404	1755404	+	Silent	SNP	C	C	T			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chrX:1755404C>T	ENST00000381229.4	+	7	813	c.777C>T	c.(775-777)gaC>gaT	p.D259D	ASMT_ENST00000381233.3_Silent_p.D212D|ASMT_ENST00000381241.3_Silent_p.D287D			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	259					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	ACTGGGCAGACGGAAAGTGCT	0.557													.|||	666	0.132987	0.1157	0.1138	5008	,	,		18401	0.2956		0.0825	False		,,,				2504	0.0542															0			X							,,	548,3858		29,490,1684	365	322	337		861,636,861	1.1	0	X	dbSNP_134	337	702,7890		32,638,3626	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	,,	61,1128,5310	TT,TC,CC		8.1704,12.4376,9.6169	,,	287/374,212/299,287/374	1755404	1250,11748	2203	4296	6499	1715404	SO:0001819	synonymous_variant	438			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.777C>T	X.37:g.1755404C>T			1715404	B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37																																																																																					0.557	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		T	1755404	C	T	1755404	2	4	157	1	0	0	0	0	0	0	0	1	1045	535	19	1		1	ASMT	23	1755404	Silent	SNP	C	TCGA-13-2066-01A-01D-1526-09	257760	1755404	153515156	44	8821											
STS	412	genome.wustl.edu	37	X	7268186	7268186	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chrX:7268186G>A	ENST00000217961.4	+	10	1856	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	546					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	AGAGGTGCCCGATCAGTTTTC	0.517									Ichthyosis																																							0			X											58	54	55					X																	7268186		2203	4299	6502	7278186	SO:0001583	missense	412	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1636G>A	X.37:g.7268186G>A	ENSP00000217961:p.Asp546Asn		7278186	B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.647889	0.00785	.	.	ENSG00000101846	ENST00000217961	D	0.88975	-2.45	4.22	-1.29	0.09288	Alkaline-phosphatase-like, core domain (1);	0.293314	0.37437	N	0.002096	T	0.53530	0.1802	N	0.00099	-2.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61412	-0.7068	10	0.06494	T	0.89	.	9.4691	0.38831	0.541:0.0:0.459:0.0	.	546	P08842	STS_HUMAN	N	546	ENSP00000217961:D546N	ENSP00000217961:D546N	D	+	1	0	STS	7278186	0.000000	0.05858	0.029000	0.17559	0.050000	0.14768	-0.560000	0.05964	-0.707000	0.05022	-0.296000	0.09543	GAT		0.517	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		A	7268186	G	A	7268186	3	1	157	1	0	0	0	0	1	0	0	0	15334	1058	37	1	1674	1	STS	23	7268186	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09	5512782	7268186	148002374	45	8822											
SSX7	280658	genome.wustl.edu	37	X	52674514	52674514	+	Missense_Mutation	SNP	G	G	T	rs112382781		TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chrX:52674514G>T	ENST00000298181.5	-	7	704	c.546C>A	c.(544-546)gaC>gaA	p.D182E		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CTTCTTCAGGGTCGCTGATCT	0.498													.|||	213	0.0564238	0.0053	0.0447	3775	,	,		13809	0.0218		0.1064	False		,,,				2504	0.047															0			X						G	GLU/ASP	74,3759		4,52,14,1575,557	85	69	74		546	-0.7	0	X	dbSNP_134	74	841,5854		40,512,249,1863,1616	no	missense	SSX7	NM_173358.2	45	44,564,263,3438,2173	TT,TG,T,GG,G		12.5616,1.9306,8.6911	probably-damaging	182/189	52674514	915,9613	2202	4280	6482	52691239	SO:0001583	missense	280658			BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.546C>A	X.37:g.52674514G>T	ENSP00000298181:p.Asp182Glu		52691239		Missense_Mutation	SNP	ENST00000298181.5	37	CCDS14343.1	111	0.06690777576853527	6	0.012195121951219513	13	0.03672316384180791	7	0.012455516014234875	61	0.08567415730337079	g	12.49	1.953243	0.34471	0.019306	0.125616	ENSG00000187754	ENST00000298181	T	0.09723	2.95	0.541	-0.687	0.11320	SSXRD motif (1);	0.424262	0.20161	N	0.097952	T	0.00210	0.0006	L	0.58101	1.795	0.80722	P	0.0	D	0.89917	1.0	D	0.91635	0.999	T	0.10613	-1.0622	8	0.15952	T	0.53	.	.	.	.	.	182	Q7RTT5	SSX7_HUMAN	E	182	ENSP00000298181:D182E	ENSP00000298181:D182E	D	-	3	2	SSX7	52691239	0.016000	0.18221	0.008000	0.14137	0.369000	0.29798	-0.783000	0.04638	-0.355000	0.08199	0.164000	0.16699	GAC		0.498	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		T	52674514	G	T	52674514	3	4	157	1	0	0	0	0	1	0	0	0	15211	1252	44	3	24	3	SSX7	23	52674514	Missense_Mutation	SNP	G	TCGA-13-2066-01A-01D-1526-09	45406328	52674514	102596046	46	8823											
CHM	1121	genome.wustl.edu	37	X	85233820	85233820	+	Missense_Mutation	SNP	T	T	A	rs145707160	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chrX:85233820T>A	ENST00000357749.2	-	4	294	c.265A>T	c.(265-267)Agc>Tgc	p.S89C	CHM_ENST00000358786.4_Missense_Mutation_p.S89C|CHM_ENST00000537751.1_Intron|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	89					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCCTTCCTGCTAAGAGCAATG	0.358													T|||	28	0.00741722	8e-04	0.0043	3775	,	,		14262	0		0.0189	False		,,,				2504	0.0051															0			X						T	CYS/SER,CYS/SER	8,3827		0,7,1,1625,570	129	106	114		265,265	2.7	0.9	X	dbSNP_134	114	133,6595		0,94,39,2334,1833	yes	missense,missense	CHM	NM_000390.2,NM_001145414.1	112,112	0,101,40,3959,2403	AA,AT,A,TT,T		1.9768,0.2086,1.3348	benign,benign	89/654,89/111	85233820	141,10422	2203	4300	6503	85120476	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.265A>T	X.37:g.85233820T>A	ENSP00000350386:p.Ser89Cys		85120476	A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	CCDS14454.1	12	0.007233273056057866	0	0.0	1	0.002777777777777778	0	0.0	7	0.009308510638297872	T	12.30	1.896999	0.33535	0.002086	0.019768	ENSG00000188419	ENST00000357749;ENST00000358786	T;T	0.59502	0.26;0.26	5.27	2.72	0.32119	.	0.219936	0.44902	D	0.000408	T	0.22360	0.0539	N	0.22421	0.69	0.19300	N	0.999976	B;B	0.25809	0.135;0.034	B;B	0.25614	0.062;0.055	T	0.10428	-1.0630	10	0.40728	T	0.16	-21.1794	6.5124	0.22228	0.1509:0.0:0.1528:0.6963	.	89;89	A1L4D2;P24386	.;RAE1_HUMAN	C	89	ENSP00000350386:S89C;ENSP00000362228:S89C	ENSP00000350386:S89C	S	-	1	0	CHM	85120476	0.997000	0.39634	0.872000	0.34217	0.959000	0.62525	2.178000	0.42519	1.732000	0.51606	0.412000	0.27726	AGC		0.358	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		A	85233820	T	A	85233820	3	1	157	1	0	0	0	0	1	0	0	0	3350	1522	53	5	1767	5	CHM	23	85233820	Missense_Mutation	SNP	T	TCGA-13-2066-01A-01D-1526-09	32559306	85233820	70036740	47	8824											
CUL4B	8450	genome.wustl.edu	37	X	119694128	119694128	+	Silent	SNP	G	G	A	rs141353300	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chrX:119694128G>A	ENST00000404115.3	-	3	821	c.420C>T	c.(418-420)tcC>tcT	p.S140S	CUL4B_ENST00000336592.6_Silent_p.S127S|CUL4B_ENST00000371322.5_Silent_p.S122S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	140	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						aggaggaggaggaggaggaTT	0.478																																																0			X						G	,	0,3835		0,0,0,1632,571	65	59	61		366,420	0.1	1	X	dbSNP_134	61	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	CUL4B	NM_001079872.1,NM_003588.3	,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,	122/896,140/914	119694128	1,10562	2203	4300	6503	119578156	SO:0001819	synonymous_variant	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.420C>T	X.37:g.119694128G>A			119578156	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	CCDS35379.1																																																																																				0.478	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		A	119694128	G	A	119694128	2	1	157	1	0	0	0	0	0	0	0	1	4058	987	35	2		2	CUL4B	23	119694128	Silent	SNP	G	TCGA-13-2066-01A-01D-1526-09	34460308	119694128	35576432	48	8825											
HMGB3	3149	genome.wustl.edu	37	X	150156339	150156339	+	Silent	SNP	A	A	G	rs139826031	byFrequency	TCGA-13-2066-01A-01D-1526-09	TCGA-13-2066-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ae34e8ba-0ca3-4c68-9379-28135af0646f	0596464f-371f-46ef-a427-7b1f1a1856fa	g.chrX:150156339A>G	ENST00000325307.7	+	5	651	c.555A>G	c.(553-555)gaA>gaG	p.E185E	HMGB3_ENST00000448905.2_Silent_p.E185E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	185	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagatgaagaagaggagg	0.463													A|||	34	0.00900662	0.0174	0.0029	3775	,	,		13837	0		0.008	False		,,,				2504	0.001															0			X						A		82,3751		1,66,14,1564,557	53	51	52		555	-0.6	0.2	X	dbSNP_134	52	102,6625		0,76,26,2352,1845	no	coding-synonymous	HMGB3	NM_005342.2		1,142,40,3916,2402	GG,GA,G,AA,A		1.5163,2.1393,1.7424		185/201	150156339	184,10376	2202	4299	6501	149906997	SO:0001819	synonymous_variant	3149			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.555A>G	X.37:g.150156339A>G			149906997	O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	CCDS35428.1																																																																																				0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		G	150156339	A	G	150156339	2	3	157	1	0	0	0	0	0	0	0	1	7227	69	3	4		4	HMGB3	23	150156339	Silent	SNP	A	TCGA-13-2066-01A-01D-1526-09	30462211	150156339	5114221	49	8826											
PADI2	11240	genome.wustl.edu	37	1	17410239	17410239	+	Silent	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:17410239T>A	ENST00000375486.4	-	9	1095	c.1032A>T	c.(1030-1032)cgA>cgT	p.R344R	PADI2_ENST00000444885.2_Silent_p.R228R|PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000375481.1_Silent_p.R344R	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	344					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGCGATCGCCTCGGTTTAGGT	0.527																																																0			1											120	115	117					1																	17410239		2203	4300	6503	17282826	SO:0001819	synonymous_variant	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1032A>T	1.37:g.17410239T>A			17282826	Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	CCDS177.1																																																																																				0.527	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			A	17410239	T	A	17410239	2	1	158	1	0	0	0	0	0	0	0	1	11378	1538	54	5		5	PADI2	1	17410239	Silent	SNP	T	TCGA-13-2071-01A-02D-1526-09		17410239	231840382	1	8827											
CDC20	991	genome.wustl.edu	37	1	43825411	43825433	+	Frame_Shift_Del	DEL	TGGGCTTTGAACCTGAACGGTTT	TGGGCTTTGAACCTGAACGGTTT	-	rs17849349|rs149953181|rs2069380|rs113848060	byFrequency	TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	TGGGCTTTGAACCTGAACGGTTT	TGGGCTTTGAACCTGAACGGTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:43825411_43825433delTGGGCTTTGAACCTGAACGGTTT	ENST00000372462.1	+	3	549_571	c.346_368delTGGGCTTTGAACCTGAACGGTTT	c.(346-369)tgggctttgaacctgaacggttttfs	p.WALNLNGF116fs	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Frame_Shift_Del_p.WALNLNGF116fs			Q12834	CDC20_HUMAN	cell division cycle 20	116					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAG	0.507																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											0			1																																								43598020	SO:0001589	frameshift_variant	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.346_368delTGGGCTTTGAACCTGAACGGTTT	1.37:g.43825411_43825433delTGGGCTTTGAACCTGAACGGTTT	ENSP00000361540:p.Trp116fs		43597998	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Frame_Shift_Del	DEL	ENST00000372462.1	37	CCDS484.1																																																																																				0.507	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		-	43825433	TGGGCTTTGAACCTGAACGGTTT	-	43825411	7	5	158	1	0	1	0	1	0	0	0	0	3059	1580	55	0	356	0	CDC20	1	43825411	Frame_Shift_Del	DEL	TGGGCTTTGAACCTGAACGGTTT	TCGA-13-2071-01A-02D-1526-09	26415172	43825411	205425210	2	8828											
LEPR	3953	genome.wustl.edu	37	1	66067629	66067629	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:66067629A>T	ENST00000349533.6	+	10	1574	c.1389A>T	c.(1387-1389)caA>caT	p.Q463H	LEPR_ENST00000371060.3_Missense_Mutation_p.Q463H|LEPR_ENST00000344610.8_Missense_Mutation_p.Q463H|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.Q463H|LEPR_ENST00000371059.3_Missense_Mutation_p.Q463H	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCACTTTGCAATTGAGGTATC	0.343																																																0			1											155	166	162					1																	66067629		2203	4300	6503	65840217	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1389A>T	1.37:g.66067629A>T	ENSP00000330393:p.Gln463His		65840217	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368327	0.42003	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.0	3.1	0.35709	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.417958	0.28119	N	0.016531	T	0.47173	0.1431	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.997;0.999	T	0.50717	-0.8795	10	0.56958	D	0.05	-3.699	10.641	0.45592	0.1601:0.0:0.8399:0.0	.	463;463;463	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	H	463	ENSP00000340884:Q463H;ENSP00000330393:Q463H;ENSP00000360099:Q463H;ENSP00000360098:Q463H;ENSP00000360097:Q463H	ENSP00000340884:Q463H	Q	+	3	2	LEPR	65840217	1.000000	0.71417	0.986000	0.45419	0.358000	0.29455	3.050000	0.49877	0.497000	0.27926	-0.467000	0.05162	CAA		0.343	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		T	66067629	A	T	66067629	3	4	158	1	0	0	0	0	1	0	0	0	8728	98	4	5	1419	5	LEPR	1	66067629	Missense_Mutation	SNP	A	TCGA-13-2071-01A-02D-1526-09	22242218	66067629	183182992	3	8829											
PDE4DIP	9659	genome.wustl.edu	37	1	144930928	144930928	+	Intron	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:144930928T>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.T261S|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.T261S|PDE4DIP_ENST00000369349.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCTCTCAGTCTCCTCATCT	0.498			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			1											158	151	154					1																	144930928		2203	4300	6503	143642285	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7107A>T	1.37:g.144930928T>A			143642285	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	0.031	-1.331950	0.01298	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.11063	2.81;2.81	5.53	-10.7	0.00240	.	.	.	.	.	T	0.01454	0.0047	N	0.19112	0.55	0.19945	N	0.999947	B	0.10296	0.003	B	0.06405	0.002	T	0.47235	-0.9133	9	0.39692	T	0.17	.	6.2235	0.20695	0.091:0.2859:0.4862:0.1369	.	261	Q5VU43-2	.	S	261	ENSP00000316434:T261S;ENSP00000433392:T261S	ENSP00000316434:T261S	T	-	1	0	PDE4DIP	143642285	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-1.196000	0.03041	-1.446000	0.01945	-0.353000	0.07706	ACT		0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144930928	T	A	144930928	1	1	158	0	1	0	0	0	0	0	0	0	11643	1667	58	5		5	PDE4DIP	1	144930928	Intron	SNP	T	TCGA-13-2071-01A-02D-1526-09	78863299	144930928	104319693	4	8830											
PI4KB	5298	genome.wustl.edu	37	1	151288595	151288595	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:151288595C>G	ENST00000368873.1	-	2	531	c.363G>C	c.(361-363)caG>caC	p.Q121H	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.Q121H|PI4KB_ENST00000368875.2_Missense_Mutation_p.Q133H|PI4KB_ENST00000271657.5_Missense_Mutation_p.Q133H|PI4KB_ENST00000368874.4_Missense_Mutation_p.Q121H			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	121	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGAGTTGTTCTGCCGCCGTC	0.532																																					Colon(154;765 1838 9854 28443 37492)											0			1											81	74	76					1																	151288595		2203	4300	6503	149555219	SO:0001583	missense	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.363G>C	1.37:g.151288595C>G	ENSP00000357867:p.Gln121His		149555219	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	C	12.63	1.994358	0.35226	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.46	3.61	0.41365	.	0.123617	0.56097	D	0.000032	T	0.17577	0.0422	L	0.27053	0.805	0.34418	D	0.697194	P;P;P	0.45348	0.856;0.511;0.643	B;B;B	0.38056	0.264;0.087;0.179	T	0.03784	-1.1004	10	0.51188	T	0.08	-9.0E-4	10.9532	0.47343	0.0:0.8486:0.0:0.1514	.	121;121;121	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	H	121;133;133;121;121;121	ENSP00000357868:Q121H;ENSP00000357869:Q133H;ENSP00000271657:Q133H;ENSP00000357867:Q121H;ENSP00000357866:Q121H;ENSP00000394719:Q121H	ENSP00000271657:Q133H	Q	-	3	2	PI4KB	149555219	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.314000	0.51943	0.879000	0.35944	-0.157000	0.13467	CAG		0.532	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		G	151288595	C	G	151288595	3	3	158	1	0	0	0	0	1	0	0	0	11874	912	32	3	2131	3	PI4KB	1	151288595	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	6357667	151288595	97962026	5	8831											
C1orf116	79098	genome.wustl.edu	37	1	207198264	207198264	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr1:207198264C>T	ENST00000359470.5	-	3	500	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	84						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GGGCAGTGCTCGGAAACCTCT	0.597																																																0			1											94	99	97					1																	207198264		2203	4300	6503	205264887	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.251G>A	1.37:g.207198264C>T	ENSP00000352447:p.Arg84Gln		205264887	C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536801	0.45176	.	.	ENSG00000182795	ENST00000359470	T	0.12569	2.67	5.12	-0.296	0.12824	.	0.416432	0.22367	N	0.060987	T	0.10895	0.0266	M	0.63843	1.955	0.20074	N	0.999934	B	0.19331	0.035	B	0.20384	0.029	T	0.23511	-1.0186	10	0.38643	T	0.18	-0.3437	1.2721	0.02023	0.249:0.4156:0.1213:0.2142	.	84	Q9BW04	SARG_HUMAN	Q	84	ENSP00000352447:R84Q	ENSP00000352447:R84Q	R	-	2	0	C1orf116	205264887	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.712000	0.01885	-0.067000	0.12976	-0.899000	0.02877	CGA		0.597	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		T	207198264	C	T	207198264	3	4	158	1	0	0	0	0	1	0	0	0	1989	884	31	1	1562	1	C1orf116	1	207198264	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	55909669	207198264	42052357	6	8832											
PDIA6	10130	genome.wustl.edu	37	2	10925098	10925098	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr2:10925098T>C	ENST00000272227.3	-	12	1363	c.1216A>G	c.(1216-1218)Atc>Gtc	p.I406V	ATP6V1C2_ENST00000381661.3_3'UTR|PDIA6_ENST00000404824.2_Missense_Mutation_p.I454V|PDIA6_ENST00000540494.1_Missense_Mutation_p.I403V|PDIA6_ENST00000381611.4_Missense_Mutation_p.I411V|PDIA6_ENST00000404371.2_Missense_Mutation_p.I458V	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	406					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTCTCAACGATGGTAGGGAAA	0.577																																					GBM(73;509 1219 34219 41343 41551)											0			2											36	31	33					2																	10925098		2202	4296	6498	10842549	SO:0001583	missense	10130			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1216A>G	2.37:g.10925098T>C	ENSP00000272227:p.Ile406Val		10842549	B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	T	9.826	1.187004	0.21870	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.05081	3.61;3.5;3.57;3.55;3.6	5.72	5.72	0.89469	.	0.043557	0.85682	D	0.000000	T	0.10766	0.0263	L	0.58583	1.82	0.80722	D	1	B;B;B;B	0.29270	0.033;0.24;0.15;0.022	B;B;B;B	0.34093	0.05;0.175;0.124;0.012	T	0.07539	-1.0767	10	0.33940	T	0.23	.	15.4793	0.75511	0.0:0.0:0.0:1.0	.	403;454;458;406	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	V	406;458;454;403;411	ENSP00000272227:I406V;ENSP00000385385:I458V;ENSP00000384459:I454V;ENSP00000438778:I403V;ENSP00000371024:I411V	ENSP00000272227:I406V	I	-	1	0	PDIA6	10842549	1.000000	0.71417	0.155000	0.22561	0.025000	0.11179	4.635000	0.61332	2.311000	0.77944	0.533000	0.62120	ATC		0.577	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		C	10925098	T	C	10925098	3	2	158	1	0	0	0	0	1	0	0	0	11672	1464	51	4	114	4	PDIA6	2	10925098	Missense_Mutation	SNP	T	TCGA-13-2071-01A-02D-1526-09		10925098	232274275	7	8833											
MXD1	4084	genome.wustl.edu	37	2	70142504	70142504	+	Silent	SNP	G	G	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr2:70142504G>A	ENST00000264444.2	+	1	302	c.42G>A	c.(40-42)gaG>gaA	p.E14E	snoU13_ENST00000458983.1_RNA|MXD1_ENST00000540449.1_Silent_p.E14E	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	14					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TGCTGCTGGAGGCGGCCGACT	0.726																																																0			2											11	14	13					2																	70142504		1861	3655	5516	69996008	SO:0001819	synonymous_variant	4084				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.42G>A	2.37:g.70142504G>A			69996008	B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Silent	SNP	ENST00000264444.2	37	CCDS1896.1																																																																																				0.726	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		A	70142504	G	A	70142504	2	1	158	1	0	0	0	0	0	0	0	1	9999	991	35	2		2	MXD1	2	70142504	Silent	SNP	G	TCGA-13-2071-01A-02D-1526-09	59217406	70142504	173056869	8	8834											
RARB	5915	genome.wustl.edu	37	3	25622184	25622184	+	Silent	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:25622184C>T	ENST00000404969.1	+	5	778	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	RARB_ENST00000330688.4_Silent_p.L253L|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Silent_p.L141L|RARB_ENST00000437042.2_Silent_p.L141L			P10826	RARB_HUMAN	retinoic acid receptor, beta	260	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCAAATTACCCTGCTGAAGGC	0.547																																																0			3											113	103	106					3																	25622184		2203	4300	6503	25597188	SO:0001819	synonymous_variant	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.778C>T	3.37:g.25622184C>T			25597188	P12891|Q00989|Q15298|Q9UN48	Silent	SNP	ENST00000404969.1	37																																																																																					0.547	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		T	25622184	C	T	25622184	2	4	158	1	0	0	0	0	0	0	0	1	13056	680	24	2		2	RARB	3	25622184	Silent	SNP	C	TCGA-13-2071-01A-02D-1526-09		25622184	172400246	9	8835											
ZDHHC3	51304	genome.wustl.edu	37	3	44968337	44968337	+	Silent	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:44968337T>A	ENST00000424952.2	-	7	1012	c.744A>T	c.(742-744)ggA>ggT	p.G248G	ZDHHC3_ENST00000296127.3_Silent_p.G276G|ZDHHC3_ENST00000342790.4_Silent_p.G282G	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	248					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ATTGTTCTATTCCCTGAAAAC	0.443																																																0			3											106	98	101					3																	44968337		2203	4300	6503	44943341	SO:0001819	synonymous_variant	51304			AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"Zinc fingers, DHHC-type"	18470	protein-coding gene	gene with protein product	"golgi-specific DHHC Zinc Finger Protein"					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.744A>T	3.37:g.44968337T>A			44943341	Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	CCDS46811.1																																																																																				0.443	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		A	44968337	T	A	44968337	2	1	158	1	0	0	0	0	0	0	0	1	17616	1770	62	5		5	ZDHHC3	3	44968337	Silent	SNP	T	TCGA-13-2071-01A-02D-1526-09	19346153	44968337	153054093	10	8836											
ITGB5	3693	genome.wustl.edu	37	3	124527907	124527907	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:124527907C>A	ENST00000296181.4	-	9	1521	c.1225G>T	c.(1225-1227)Ggt>Tgt	p.G409C		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	409					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTCCTCTGACCAGGATAGGAT	0.473																																																0			3											139	136	137					3																	124527907		2203	4300	6503	126010597	SO:0001583	missense	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1225G>T	3.37:g.124527907C>A	ENSP00000296181:p.Gly409Cys		126010597	B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.314893|4.314893	0.81358|0.81358	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000296181|ENST00000496703	T|.	0.65916|.	-0.18|.	5.63|5.63	4.76|4.76	0.60689|0.60689	Integrin beta subunit, N-terminal (2);|.	0.054399|.	0.64402|.	D|.	0.000001|.	T|T	0.80433|0.80433	0.4622|0.4622	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.63033|.	0.91|.	D|D	0.84195|0.84195	0.0447|0.0447	10|5	0.87932|.	D|.	0|.	.|.	13.9982|13.9982	0.64416|0.64416	0.0:0.9268:0.0:0.0732|0.0:0.9268:0.0:0.0732	.|.	409|.	P18084|.	ITB5_HUMAN|.	C|L	409|175	ENSP00000296181:G409C|.	ENSP00000296181:G409C|.	G|W	-|-	1|2	0|0	ITGB5|ITGB5	126010597|126010597	1.000000|1.000000	0.71417|0.71417	0.930000|0.930000	0.37139|0.37139	0.838000|0.838000	0.47535|0.47535	5.324000|5.324000	0.65863|0.65863	1.385000|1.385000	0.46445|0.46445	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.473	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		A	124527907	C	A	124527907	3	1	158	1	0	0	0	0	1	0	0	0	7898	594	21	3	1202	3	ITGB5	3	124527907	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	79559570	124527907	73494523	11	8837											
MRPL3	11222	genome.wustl.edu	37	3	131181679	131181679	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:131181679T>C	ENST00000264995.3	-	10	1082	c.935A>G	c.(934-936)aAa>aGa	p.K312R	MRPL3_ENST00000425847.2_Missense_Mutation_p.K339R	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	312					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGGTAGATTTTTACCGAGATC	0.393																																																0			3											99	101	101					3																	131181679		2203	4300	6503	132664369	SO:0001583	missense	11222			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.935A>G	3.37:g.131181679T>C	ENSP00000264995:p.Lys312Arg		132664369	Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.248407	0.22880	.	.	ENSG00000114686	ENST00000264995;ENST00000425847	T;T	0.42131	0.98;0.98	5.26	3.89	0.44902	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.450396	0.25695	N	0.028911	T	0.31071	0.0785	L	0.36672	1.1	0.31753	N	0.63435	B;B	0.14438	0.007;0.01	B;B	0.13407	0.009;0.008	T	0.28004	-1.0057	10	0.28530	T	0.3	-14.049	10.6735	0.45772	0.0:0.0914:0.0:0.9086	.	339;312	E7ETU7;P09001	.;RM03_HUMAN	R	312;339	ENSP00000264995:K312R;ENSP00000398536:K339R	ENSP00000264995:K312R	K	-	2	0	MRPL3	132664369	1.000000	0.71417	0.350000	0.25708	0.498000	0.33706	2.144000	0.42197	1.977000	0.57605	0.477000	0.44152	AAA		0.393	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		C	131181679	T	C	131181679	3	2	158	1	0	0	0	0	1	0	0	0	9793	1841	64	4	115	4	MRPL3	3	131181679	Missense_Mutation	SNP	T	TCGA-13-2071-01A-02D-1526-09	6653772	131181679	66840751	12	8838											
PLD1	5337	genome.wustl.edu	37	3	171362744	171362744	+	Silent	SNP	G	G	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:171362744G>T	ENST00000351298.4	-	22	2625	c.2499C>A	c.(2497-2499)acC>acA	p.T833T	PLD1_ENST00000356327.5_Silent_p.T795T|PLD1_ENST00000340989.4_Silent_p.T833T|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	833	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTCCTCCGCCGGTTGAAATGT	0.463																																					NSCLC(149;2174 3517 34058)											0			3											131	125	127					3																	171362744		2203	4300	6503	172845438	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2499C>A	3.37:g.171362744G>T			172845438		Silent	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	7.491	0.650673	0.14516	.	.	ENSG00000075651	ENST00000446289	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54801	-0.8239	4	.	.	.	-23.2677	3.2211	0.06716	0.1671:0.1926:0.4518:0.1885	.	.	.	.	Q	96	.	.	P	-	2	0	PLD1	172845438	0.000000	0.05858	0.004000	0.12327	0.915000	0.54546	-4.491000	0.00225	-4.386000	0.00052	-0.150000	0.13652	CCG		0.463	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		T	171362744	G	T	171362744	2	4	158	1	0	0	0	0	0	0	0	1	12045	1103	39	3		3	PLD1	3	171362744	Silent	SNP	G	TCGA-13-2071-01A-02D-1526-09	40181065	171362744	26659686	13	8839											
POLR2H	5437	genome.wustl.edu	37	3	184081350	184081350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr3:184081350C>T	ENST00000456318.1	+	2	1119	c.70C>T	c.(70-72)Cga>Tga	p.R24*	CLCN2_ENST00000265593.4_5'Flank|POLR2H_ENST00000452961.1_5'UTR|POLR2H_ENST00000296223.3_Nonsense_Mutation_p.R24*|CLCN2_ENST00000423355.2_5'Flank|CLCN2_ENST00000344937.7_5'Flank|CLCN2_ENST00000434054.2_5'Flank|POLR2H_ENST00000430783.1_Nonsense_Mutation_p.R24*|POLR2H_ENST00000443489.1_5'UTR|CLCN2_ENST00000457512.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_Nonsense_Mutation_p.R24*|POLR2H_ENST00000438240.1_Intron	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	24	Non-specific ssDNA binding.				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGTTTGACCGAGGTAAGTA	0.592											OREG0015950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			3											89	82	85					3																	184081350		2203	4300	6503	185564044	SO:0001587	stop_gained	5437				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"RNA polymerase subunits"	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.70C>T	3.37:g.184081350C>T	ENSP00000392913:p.Arg24*	1989	185564044	C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Nonsense_Mutation	SNP	ENST00000456318.1	37	CCDS3264.1	.	.	.	.	.	.	.	.	.	.	c	41	8.700469	0.98920	.	.	ENSG00000163882	ENST00000456318;ENST00000455712;ENST00000430783;ENST00000296223;ENST00000429568	.	.	.	6.04	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4036	14.6013	0.68443	0.1458:0.8542:0.0:0.0	.	.	.	.	X	24	.	ENSP00000296223:R24X	R	+	1	2	POLR2H	185564044	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.380000	0.52448	2.873000	0.98535	0.563000	0.77884	CGA		0.592	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345558.1	NM_006232		T	184081350	C	T	184081350	4	4	158	1	0	0	0	0	0	1	0	0	12221	644	23	1	72	1	POLR2H	3	184081350	Nonsense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	12718606	184081350	13941080	14	8840											
KDR	3791	genome.wustl.edu	37	4	55972056	55972056	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr4:55972056A>T	ENST00000263923.4	-	12	1883	c.1588T>A	c.(1588-1590)Tgt>Agt	p.C530S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	530	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCGCTTCACATTTGTACAAA	0.488			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											280	268	272					4																	55972056		2203	4300	6503	55666813	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1588T>A	4.37:g.55972056A>T	ENSP00000263923:p.Cys530Ser		55666813	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926885	0.92319	.	.	ENSG00000128052	ENST00000263923	T	0.58210	0.35	5.2	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76528	0.4000	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.81125	-0.1075	10	0.56958	D	0.05	.	15.0625	0.71967	1.0:0.0:0.0:0.0	.	530;530	P35968-2;P35968	.;VGFR2_HUMAN	S	530	ENSP00000263923:C530S	ENSP00000263923:C530S	C	-	1	0	KDR	55666813	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	1.956000	0.56807	0.460000	0.39030	TGT		0.488	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55972056	A	T	55972056	3	4	158	1	0	0	0	0	1	0	0	0	8139	217	8	5	2558	5	KDR	4	55972056	Missense_Mutation	SNP	A	TCGA-13-2071-01A-02D-1526-09		55972056	135182220	15	8841											
PCDHA2	56146	genome.wustl.edu	37	5	140175375	140175375	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr5:140175375G>A	ENST00000526136.1	+	1	826	c.826G>A	c.(826-828)Gag>Aag	p.E276K	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E276K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E276K	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E276*(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAACAGCGAGATTGTGTA	0.408																																																2	Substitution - Nonsense(2)	lung(2)	5											111	105	107					5																	140175375		2203	4300	6503	140155559	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.826G>A	5.37:g.140175375G>A	ENSP00000431748:p.Glu276Lys		140155559	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	15.83	2.949777	0.53186	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.48522	0.81;0.81;0.81	4.02	4.02	0.46733	Cadherin (4);Cadherin-like (1);	0.189398	0.24527	U	0.037751	T	0.39937	0.1097	L	0.53671	1.685	0.29371	N	0.864025	P;P;P	0.44139	0.569;0.827;0.569	B;B;B	0.37833	0.169;0.259;0.169	T	0.48790	-0.9004	10	0.49607	T	0.09	.	10.3926	0.44181	0.0913:0.0:0.9087:0.0	.	276;276;276	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	276	ENSP00000430584:E276K;ENSP00000367372:E276K;ENSP00000431748:E276K	ENSP00000367372:E276K	E	+	1	0	PCDHA2	140155559	0.934000	0.31675	0.354000	0.25760	0.926000	0.56050	1.738000	0.38207	2.238000	0.73509	0.650000	0.86243	GAG		0.408	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140175375	G	A	140175375	3	1	158	1	0	0	0	0	1	0	0	0	11524	1059	37	1	828	1	PCDHA2	5	140175375	Missense_Mutation	SNP	G	TCGA-13-2071-01A-02D-1526-09		140175375	40739885	16	8842											
PCDHAC1	56135	genome.wustl.edu	37	5	140306756	140306756	+	Silent	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr5:140306756C>T	ENST00000253807.2	+	1	279	c.279C>T	c.(277-279)tgC>tgT	p.C93C	PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.C93C|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	93	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGCCTGCGTCTTGACCT	0.612																																																0			5											47	46	47					5																	140306756		2203	4300	6503	140286940	SO:0001819	synonymous_variant	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.279C>T	5.37:g.140306756C>T			140286940	Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	CCDS4241.1																																																																																				0.612	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		T	140306756	C	T	140306756	2	4	158	1	0	0	0	0	0	0	0	1	11532	776	27	1		1	PCDHAC1	5	140306756	Silent	SNP	C	TCGA-13-2071-01A-02D-1526-09	131381	140306756	40608504	17	8843											
PCDHB9	57717	genome.wustl.edu	37	5	140568460	140568460	+	IGR	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr5:140568460C>T	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)			ACTACGAGGCCCTGCAGGCTT	0.682																																																0			5											86	100	95					5																	140568460		2203	4300	6503	140548644	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.140568460C>T			140548644	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140568460	C	T	140568460	1	4	158	0	1	0	0	0	0	0	0	0	11549	623	22	2		2	PCDHB9	5	140568460	IGR	SNP	C	TCGA-13-2071-01A-02D-1526-09	261704	140568460	40346800	18	8844											
MAK	4117	genome.wustl.edu	37	6	10764812	10764812	+	Missense_Mutation	SNP	C	C	T	rs368535018		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr6:10764812C>T	ENST00000313243.2	-	14	2127	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.R582Q|MAK_ENST00000354489.2_Missense_Mutation_p.R582Q			P20794	MAK_HUMAN	male germ cell-associated kinase	582					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AAACTGCCCCCGACCAGTTTT	0.403																																																0			6						C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	92	94	93		1625,1745	0.8	1	6		93	0,8600		0,0,4300	no	missense,missense	MAK	NM_001242385.1,NM_005906.4	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	542/584,582/624	10764812	1,13005	2203	4300	6503	10872798	SO:0001583	missense	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1745G>A	6.37:g.10764812C>T	ENSP00000313021:p.Arg582Gln		10872798	F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002728	0.54254	2.27E-4	0.0	ENSG00000111837	ENST00000313243;ENST00000354489	T;T	0.73363	-0.74;-0.74	5.66	0.822	0.18806	.	0.265585	0.36932	N	0.002337	T	0.56601	0.1996	M	0.77103	2.36	0.80722	D	1	B	0.34015	0.435	B	0.28784	0.094	T	0.56890	-0.7904	10	0.56958	D	0.05	.	10.5029	0.44817	0.0:0.6763:0.0:0.3237	.	582	P20794	MAK_HUMAN	Q	582	ENSP00000313021:R582Q;ENSP00000346484:R582Q	ENSP00000313021:R582Q	R	-	2	0	MAK	10872798	0.997000	0.39634	0.957000	0.39632	0.993000	0.82548	0.514000	0.22786	-0.149000	0.11215	-0.150000	0.13652	CGG		0.403	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		T	10764812	C	T	10764812	3	4	158	1	0	0	0	0	1	0	0	0	9197	652	23	1	130	1	MAK	6	10764812	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09		10764812	160350255	19	8845											
C6orf25	80740	genome.wustl.edu	37	6	31691713	31691713	+	5'Flank	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr6:31691713T>C	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Missense_Mutation_p.L120P|C6orf25_ENST00000480039.1_Missense_Mutation_p.L120P|C6orf25_ENST00000375809.3_Missense_Mutation_p.L120P|C6orf25_ENST00000375805.2_Missense_Mutation_p.L120P|LY6G6C_ENST00000495859.1_5'Flank	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						CGTACAGTGCTTCACGTGCTG	0.632																																																0			6											60	69	66					6																	31691713		2192	4287	6479	31799692	SO:0001631	upstream_gene_variant	80739				CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691713T>C	Exception_encountered		31799692	Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	T	31	5.083079	0.94050	.	.	ENSG00000204420	ENST00000480039;ENST00000375810;ENST00000375805;ENST00000375809;ENST00000375804;ENST00000375814;ENST00000375806	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.03	5.03	0.67393	Immunoglobulin subtype (1);	0.301060	0.24083	N	0.041705	T	0.50956	0.1646	L	0.34521	1.04	0.38004	D	0.934316	D;D;D;D;D;D	0.76494	0.997;0.997;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.80764	0.994;0.919;0.943;0.943;0.943;0.943	T	0.59306	-0.7479	10	0.87932	D	0	-7.0497	11.0724	0.48010	0.0:0.0:0.0:1.0	.	120;120;120;120;120;120	O95866-3;O95866-5;O95866;O95866-4;O95866-7;B0V023	.;.;G6B_HUMAN;.;.;.	P	120	ENSP00000419306:L120P;ENSP00000364968:L120P;ENSP00000364963:L120P;ENSP00000364967:L120P;ENSP00000364962:L120P;ENSP00000364972:L120P;ENSP00000364964:L120P	ENSP00000364962:L120P	L	+	2	0	C6orf25	31799692	0.387000	0.25188	0.275000	0.24674	0.991000	0.79684	2.672000	0.46850	2.116000	0.64780	0.402000	0.26972	CTT		0.632	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			C	31691713	T	C	31691713	1	2	158	0	1	0	0	0	0	0	0	0	2360	1609	56	4		4	C6orf25	6	31691713	5'Flank	SNP	T	TCGA-13-2071-01A-02D-1526-09	20926901	31691713	139423354	20	8846											
TMEM196	256130	genome.wustl.edu	37	7	19765386	19765412	+	Start_Codon_Del	DEL	GATCATCTGATAAGAAAAAGAAAGGCA	GATCATCTGATAAGAAAAAGAAAGGCA	-			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	GATCATCTGATAAGAAAAAGAAAGGCA	GATCATCTGATAAGAAAAAGAAAGGCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr7:19765386_19765412delGATCATCTGATAAGAAAAAGAAAGGCA	ENST00000422233.1	-	0	89_94				TMEM196_ENST00000433641.1_Start_Codon_Del|TMEM196_ENST00000405844.1_Splice_Site_p.CL69del|TMEM196_ENST00000493519.1_Start_Codon_Del|TMEM196_ENST00000405764.3_Splice_Site_p.CL69del			Q5HYL7	TM196_HUMAN	transmembrane protein 196							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						CTGAAAAGAGGATCATCTGATAAGAAAAAGAAAGGCAGCGTTAAAGT	0.454																																																0			7																																								19731937	SO:0001582	initiator_codon_variant	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504		7.37:g.19765386_19765412delGATCATCTGATAAGAAAAAGAAAGGCA			19731911	Q8N6I6	Splice_Site	DEL	ENST00000422233.1	37																																																																																					0.454	TMEM196-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326540.2	NM_152774		-	19765412	GATCATCTGATAAGAAAAAGAAAGGCA	-	19765386	7	5	158	1	0	1	0	1	0	0	0	0	16118	1164	41	0	316	0	TMEM196	7	19765386	Start_Codon_Del	DEL	GATCATCTGATAAGAAAAAGAAAGGCA	TCGA-13-2071-01A-02D-1526-09		19765386	139373277	21	8847											
SMURF1	57154	genome.wustl.edu	37	7	98643376	98643376	+	Missense_Mutation	SNP	G	G	A	rs371884669		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr7:98643376G>A	ENST00000361125.1	-	12	1598	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.R401W	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	427	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ACCATCAGCCGTTTTTTCAAG	0.453																																																0			7						G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	156	134	141		1201,1279,1201	4.1	0.3	7		141	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SMURF1	NM_001199847.1,NM_020429.2,NM_181349.2	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	401/729,427/758,401/732	98643376	1,13005	2203	4300	6503	98481312	SO:0001583	missense	57154			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1279C>T	7.37:g.98643376G>A	ENSP00000354621:p.Arg427Trp		98481312	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143323	0.57044	0.0	1.16E-4	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.77098	-1.07;-1.07	6.05	4.09	0.47781	HECT (3);	0.051234	0.85682	D	0.000000	D	0.89157	0.6635	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.90182	0.4243	10	0.87932	D	0	.	9.2077	0.37300	0.0806:0.0:0.6785:0.241	.	401;427;401	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	W	401;427	ENSP00000355326:R401W;ENSP00000354621:R427W	ENSP00000354621:R427W	R	-	1	2	SMURF1	98481312	1.000000	0.71417	0.322000	0.25334	0.240000	0.25518	3.961000	0.56759	1.577000	0.49804	0.650000	0.86243	CGG		0.453	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		A	98643376	G	A	98643376	3	1	158	1	0	0	0	0	1	0	0	0	14822	1144	40	1	1026	1	SMURF1	7	98643376	Missense_Mutation	SNP	G	TCGA-13-2071-01A-02D-1526-09	78877990	98643376	60495287	22	8848											
KEL	3792	genome.wustl.edu	37	7	142640665	142640665	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr7:142640665C>A	ENST00000355265.2	-	15	2085	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	537					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CATTGACGTCCCAAGGGGACA	0.557																																																0			7											126	105	112					7																	142640665		2203	4300	6503	142350787	SO:0001583	missense	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1611G>T	7.37:g.142640665C>A	ENSP00000347409:p.Trp537Cys		142350787	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496952	0.44352	.	.	ENSG00000197993	ENST00000355265	D	0.81996	-1.56	4.88	4.88	0.63580	Peptidase M13, neprilysin, C-terminal (1);	0.000000	0.56097	D	0.000036	D	0.87763	0.6259	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.61592	0.891	D	0.88023	0.2770	10	0.54805	T	0.06	-6.3826	13.4093	0.60933	0.0:1.0:0.0:0.0	.	537	P23276	KELL_HUMAN	C	537	ENSP00000347409:W537C	ENSP00000347409:W537C	W	-	3	0	KEL	142350787	0.977000	0.34250	0.980000	0.43619	0.420000	0.31355	2.549000	0.45803	2.524000	0.85096	0.655000	0.94253	TGG		0.557	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142640665	C	A	142640665	3	1	158	1	0	0	0	0	1	0	0	0	8142	624	22	3	607	3	KEL	7	142640665	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	43997289	142640665	16497998	23	8849											
DLGAP2	9228	genome.wustl.edu	37	8	1649450	1649461	+	In_Frame_Del	DEL	CGCCAGGAAGCC	CGCCAGGAAGCC	-	rs200619278		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	CGCCAGGAAGCC	CGCCAGGAAGCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:1649450_1649461delCGCCAGGAAGCC	ENST00000421627.2	+	12	2940_2951	c.2806_2817delCGCCAGGAAGCC	c.(2806-2817)cgccaggaagccdel	p.RQEA936del		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1015					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACAGACAACGCCAGGAAGCCCGGAGGCGCC	0.608																																																0			8																																								1636868	SO:0001651	inframe_deletion	9228			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2806_2817delCGCCAGGAAGCC	8.37:g.1649450_1649461delCGCCAGGAAGCC	ENSP00000400258:p.Arg936_Ala939del		1636857	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	In_Frame_Del	DEL	ENST00000421627.2	37	CCDS47760.1																																																																																				0.608	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		-	1649461	CGCCAGGAAGCC	-	1649450	7	5	158	1	0	1	0	1	0	0	0	0	4560	536	19	0	2848	0	DLGAP2	8	1649450	In_Frame_Del	DEL	CGCCAGGAAGCC	TCGA-13-2071-01A-02D-1526-09		1649450	144714572	24	8850											
DLGAP2	9228	genome.wustl.edu	37	8	1649524	1649524	+	Silent	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:1649524C>T	ENST00000421627.2	+	12	3014	c.2880C>T	c.(2878-2880)cgC>cgT	p.R960R		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1039					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCTCCGAGCGCGCGGACAGCA	0.692																																																0			8											12	16	14					8																	1649524		2187	4292	6479	1636931	SO:0001819	synonymous_variant	9228			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2880C>T	8.37:g.1649524C>T			1636931	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111640	0.20714	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48293	-0.9048	4	.	.	.	-15.531	4.2597	0.10735	0.2701:0.0853:0.4505:0.1941	.	.	.	.	V	963	.	.	A	+	2	0	DLGAP2	1636931	0.001000	0.12720	0.201000	0.23476	0.825000	0.46686	-1.497000	0.02289	-2.913000	0.00307	-0.500000	0.04577	GCG		0.692	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		T	1649524	C	T	1649524	2	4	158	1	0	0	0	0	0	0	0	1	4560	755	27	1		1	DLGAP2	8	1649524	Silent	SNP	C	TCGA-13-2071-01A-02D-1526-09	74	1649524	144714498	25	8851											
TEX15	56154	genome.wustl.edu	37	8	30702009	30702009	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:30702009T>G	ENST00000256246.2	-	1	4599	c.4525A>C	c.(4525-4527)Act>Cct	p.T1509P		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1509					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATCAAGTTAGTTGTAATAATT	0.343																																																0			8											138	142	140					8																	30702009		2203	4299	6502	30821551	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4525A>C	8.37:g.30702009T>G	ENSP00000256246:p.Thr1509Pro		30821551		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.528700	0.27387	.	.	ENSG00000133863	ENST00000256246	T	0.10288	2.89	4.95	3.76	0.43208	.	0.530505	0.18598	N	0.136554	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	P	0.35982	0.531	B	0.35353	0.201	T	0.25433	-1.0132	10	0.87932	D	0	.	8.157	0.31176	0.0:0.0951:0.0:0.9049	.	1509	Q9BXT5	TEX15_HUMAN	P	1509	ENSP00000256246:T1509P	ENSP00000256246:T1509P	T	-	1	0	TEX15	30821551	0.017000	0.18338	0.011000	0.14972	0.036000	0.12997	0.343000	0.19944	0.950000	0.37743	0.455000	0.32223	ACT		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			G	30702009	T	G	30702009	3	3	158	1	0	0	0	0	1	0	0	0	15779	1725	60	5	3860	5	TEX15	8	30702009	Missense_Mutation	SNP	T	TCGA-13-2071-01A-02D-1526-09	29052485	30702009	115662013	26	8852											
ADAM2	2515	genome.wustl.edu	37	8	39606878	39606878	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:39606878A>G	ENST00000265708.4	-	18	2070	c.1967T>C	c.(1966-1968)aTt>aCt	p.I656T	ADAM2_ENST00000379853.2_Missense_Mutation_p.I500T|ADAM2_ENST00000521880.1_Missense_Mutation_p.I593T|ADAM2_ENST00000347580.4_Missense_Mutation_p.I637T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	656					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCCACTGTCAATACTCCCACC	0.348																																																0			8											92	90	91					8																	39606878		2203	4300	6503	39726035	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1967T>C	8.37:g.39606878A>G	ENSP00000265708:p.Ile656Thr		39726035	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	9.015	0.983477	0.18889	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86	4.31	3.14	0.36123	.	.	.	.	.	D	0.90758	0.7099	L	0.31578	0.945	0.09310	N	0.999999	B;B;B;B	0.14805	0.001;0.003;0.011;0.006	B;B;B;B	0.20384	0.009;0.004;0.029;0.013	T	0.83178	-0.0090	9	0.52906	T	0.07	.	7.1279	0.25482	0.8928:0.0:0.1072:0.0	.	593;500;637;656	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	T	637;500;656;593	ENSP00000343854:I637T;ENSP00000369182:I500T;ENSP00000265708:I656T;ENSP00000429352:I593T	ENSP00000265708:I656T	I	-	2	0	ADAM2	39726035	0.049000	0.20398	0.166000	0.22797	0.838000	0.47535	1.248000	0.32827	0.758000	0.33059	-0.274000	0.10170	ATT		0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		G	39606878	A	G	39606878	3	3	158	1	0	0	0	0	1	0	0	0	241	101	4	4	252	4	ADAM2	8	39606878	Missense_Mutation	SNP	A	TCGA-13-2071-01A-02D-1526-09	8904869	39606878	106757144	27	8853											
CYP11B2	1585	genome.wustl.edu	37	8	143994750	143994750	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr8:143994750C>G	ENST00000323110.2	-	6	1074	c.1072G>C	c.(1072-1074)Gca>Cca	p.A358P		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	358					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TCGGTGGTTGCCTTCTGGGGA	0.677									Familial Hyperaldosteronism type I																																							0			8											53	58	56					8																	143994750		2203	4300	6503	143991752	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1072G>C	8.37:g.143994750C>G	ENSP00000325822:p.Ala358Pro		143991752	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	10.72	1.429732	0.25726	.	.	ENSG00000179142	ENST00000323110	T	0.69435	-0.4	3.88	1.84	0.25277	.	0.960065	0.08544	N	0.930044	T	0.63988	0.2558	M	0.71581	2.175	0.09310	N	1	B	0.31227	0.314	B	0.38921	0.285	T	0.55592	-0.8117	10	0.30854	T	0.27	.	1.7717	0.03013	0.2211:0.4691:0.1872:0.1226	.	358	P19099	C11B2_HUMAN	P	358	ENSP00000325822:A358P	ENSP00000325822:A358P	A	-	1	0	CYP11B2	143991752	0.006000	0.16342	0.001000	0.08648	0.011000	0.07611	1.383000	0.34385	0.837000	0.34925	0.558000	0.71614	GCA		0.677	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			G	143994750	C	G	143994750	3	3	158	1	0	0	0	0	1	0	0	0	4146	739	26	3	455	3	CYP11B2	8	143994750	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	104387872	143994750	2369272	28	8854											
ANKRD20A4	728747	genome.wustl.edu	37	9	69421983	69421983	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr9:69421983G>C	ENST00000357336.3	+	14	1728	c.1447G>C	c.(1447-1449)Gtt>Ctt	p.V483L		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	483										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TGAACCAACTGTTCAGTCACT	0.279																																																0			9																																								68711803	SO:0001583	missense	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1447G>C	9.37:g.69421983G>C	ENSP00000349891:p.Val483Leu		68711803		Missense_Mutation	SNP	ENST00000357336.3	37	CCDS43828.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.106205	0.00356	.	.	ENSG00000172014	ENST00000357336	T	0.14144	2.53	2.26	1.3	0.21679	.	.	.	.	.	T	0.05273	0.0140	N	0.12527	0.23	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43376	-0.9395	9	0.02654	T	1	.	4.462	0.11671	0.2504:0.49:0.2596:0.0	.	483	Q4UJ75	A20A4_HUMAN	L	483	ENSP00000349891:V483L	ENSP00000349891:V483L	V	+	1	0	ANKRD20A4	68711803	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.043000	0.12043	0.254000	0.21573	0.184000	0.17185	GTT		0.279	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3	NM_001098805		C	69421983	G	C	69421983	3	2	158	1	0	0	0	0	1	0	0	0	650	1377	48	3	1501	3	ANKRD20A4	9	69421983	Missense_Mutation	SNP	G	TCGA-13-2071-01A-02D-1526-09		69421983	71791448	29	8855											
LRRC8A	56262	genome.wustl.edu	37	9	131671021	131671021	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr9:131671021C>G	ENST00000259324.5	+	3	2101	c.1578C>G	c.(1576-1578)aaC>aaG	p.N526K	LRRC8A_ENST00000372600.4_Missense_Mutation_p.N526K|LRRC8A_ENST00000372599.3_Missense_Mutation_p.N526K	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	526					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGACGGGCAACCTGAGCGCGG	0.592																																																0			9											48	43	45					9																	131671021		2203	4300	6503	130710842	SO:0001583	missense	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1578C>G	9.37:g.131671021C>G	ENSP00000259324:p.Asn526Lys		130710842	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020266	0.19433	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.38077	1.16;1.16;1.16	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.93150	3.385	0.58432	D	0.999999	P	0.45902	0.868	B	0.36464	0.225	T	0.61936	-0.6960	10	0.54805	T	0.06	.	12.0556	0.53533	0.0:0.9134:0.0:0.0866	.	526	Q8IWT6	LRC8A_HUMAN	K	526	ENSP00000361682:N526K;ENSP00000361680:N526K;ENSP00000259324:N526K	ENSP00000259324:N526K	N	+	3	2	LRRC8A	130710842	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	6.099000	0.71466	2.677000	0.91161	0.561000	0.74099	AAC		0.592	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		G	131671021	C	G	131671021	3	3	158	1	0	0	0	0	1	0	0	0	9021	506	18	3	1580	3	LRRC8A	9	131671021	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	62249038	131671021	9542410	30	8856											
COL5A1	1289	genome.wustl.edu	37	9	137582924	137582924	+	Splice_Site	SNP	T	T	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr9:137582924T>G	ENST00000371817.3	+	2	690	c.276T>G	c.(274-276)ccT>ccG	p.P92P	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	92	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCTGTACCCTGGTAAGTGCC	0.652																																																0			9											73	62	66					9																	137582924		2203	4300	6503	136722745	SO:0001630	splice_region_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.277+1T>G	9.37:g.137582924T>G			136722745	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Silent	G	137582924	T	G	137582924	5	3	158	1	0	0	0	0	0	0	1	0	3696	1594	55	5	282	5	COL5A1	9	137582924	Splice_Site	SNP	T	TCGA-13-2071-01A-02D-1526-09	5911903	137582924	3630507	31	8857											
PPYR1	5540	genome.wustl.edu	37	10	47087575	47087575	+	Silent	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr10:47087575T>C	ENST00000395716.1	+	2	877	c.792T>C	c.(790-792)aaT>aaC	p.N264N	NPY4R_ENST00000374312.1_Silent_p.N264N			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	264					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AGCAGGTCAATGTGGTGCTGG	0.592																																																0			10											155	111	126					10																	47087575		2203	4300	6503	46507581	SO:0001819	synonymous_variant	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.792T>C	10.37:g.47087575T>C			46507581	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	CCDS31193.1																																																																																				0.592	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			C	47087575	T	C	47087575	2	2	158	1	0	0	0	0	0	0	0	1	12419	1461	51	4		4	PPYR1	10	47087575	Silent	SNP	T	TCGA-13-2071-01A-02D-1526-09		47087575	88447172	32	8858											
PHF21A	51317	genome.wustl.edu	37	11	45987013	45987013	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr11:45987013G>C	ENST00000418153.2	-	9	1045	c.846C>G	c.(844-846)caC>caG	p.H282Q	PHF21A_ENST00000257821.4_Missense_Mutation_p.H283Q|PHF21A_ENST00000527753.1_5'Flank|PHF21A_ENST00000323180.6_Missense_Mutation_p.H283Q			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	282					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CACGGACGGGGTGGATGGAAT	0.582											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											117	84	95					11																	45987013		2202	4299	6501	45943589	SO:0001583	missense	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.846C>G	11.37:g.45987013G>C	ENSP00000398824:p.His282Gln	935	45943589	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721437	0.68959	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.48522	0.81;0.81;0.81	6.17	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	L	0.50333	1.59	0.51767	D	0.999934	D;P;D	0.76494	0.999;0.48;0.984	D;B;D	0.79784	0.993;0.243;0.974	T	0.49254	-0.8959	10	0.13108	T	0.6	-8.4832	9.7869	0.40681	0.4093:0.0:0.5907:0.0	.	282;283;283	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	Q	283;283;282	ENSP00000257821:H283Q;ENSP00000323152:H283Q;ENSP00000398824:H282Q	ENSP00000257821:H283Q	H	-	3	2	PHF21A	45943589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.741000	0.38238	0.179000	0.19938	0.655000	0.94253	CAC		0.582	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		C	45987013	G	C	45987013	3	2	158	1	0	0	0	0	1	0	0	0	11833	1252	44	3	1263	3	PHF21A	11	45987013	Missense_Mutation	SNP	G	TCGA-13-2071-01A-02D-1526-09		45987013	89019503	33	8859											
GRIN2B	2904	genome.wustl.edu	37	12	13768457	13768457	+	Silent	SNP	G	G	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr12:13768457G>T	ENST00000609686.1	-	6	1679	c.1470C>A	c.(1468-1470)atC>atA	p.I490I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	490					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGTTCCATTGATTTTCTTCC	0.373																																																0			12											154	162	159					12																	13768457		2203	4300	6503	13659724	SO:0001819	synonymous_variant	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1470C>A	12.37:g.13768457G>T			13659724	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.373	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13768457	G	T	13768457	2	4	158	1	0	0	0	0	0	0	0	1	6780	1280	45	3		3	GRIN2B	12	13768457	Silent	SNP	G	TCGA-13-2071-01A-02D-1526-09		13768457	120083438	34	8860											
ITGB7	3695	genome.wustl.edu	37	12	53587133	53587133	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr12:53587133C>T	ENST00000267082.5	-	12	1748	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	ITGB7_ENST00000550743.2_Intron|ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000422257.3_Missense_Mutation_p.R506H	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	506	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGACCTAGGCGGCCAGGGGC	0.607																																																0			12											18	20	19					12																	53587133		2202	4299	6501	51873400	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1517G>A	12.37:g.53587133C>T	ENSP00000267082:p.Arg506His		51873400	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597368	0.28445	.	.	ENSG00000139626	ENST00000422257;ENST00000267082	D;D	0.90788	-2.73;-2.73	4.59	2.76	0.32466	.	0.000000	0.41605	D	0.000858	T	0.80460	0.4627	L	0.28556	0.865	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.68872	-0.5294	10	0.15066	T	0.55	.	5.3433	0.15996	0.0:0.6445:0.0:0.3555	.	506	P26010	ITB7_HUMAN	H	506	ENSP00000408741:R506H;ENSP00000267082:R506H	ENSP00000267082:R506H	R	-	2	0	ITGB7	51873400	0.017000	0.18338	0.999000	0.59377	0.690000	0.40134	0.209000	0.17435	1.291000	0.44653	0.563000	0.77884	CGC		0.607	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			T	53587133	C	T	53587133	3	4	158	1	0	0	0	0	1	0	0	0	7900	768	27	1	899	1	ITGB7	12	53587133	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	39818676	53587133	80264762	35	8861											
MPHOSPH8	54737	genome.wustl.edu	37	13	20221098	20221098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr13:20221098delT	ENST00000361479.5	+	3	953	c.885delT	c.(883-885)agtfs	p.S295fs	MPHOSPH8_ENST00000414242.2_Frame_Shift_Del_p.S295fs	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	295					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACACTAAAAGTGCAAGAGAGA	0.493																																																0			13											90	97	95					13																	20221098		2203	4300	6503	19119098	SO:0001589	frameshift_variant	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.885delT	13.37:g.20221098delT	ENSP00000355388:p.Ser295fs		19119098	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Frame_Shift_Del	DEL	ENST00000361479.5	37	CCDS9287.1																																																																																				0.493	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		-	20221098	T	-	20221098	7	5	158	1	0	1	0	1	0	0	0	0	9727	1693	59	0	895	0	MPHOSPH8	13	20221098	Frame_Shift_Del	DEL	T	TCGA-13-2071-01A-02D-1526-09		20221098	94948780	36	8862											
MTMR6	9107	genome.wustl.edu	37	13	25823461	25823461	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr13:25823461T>A	ENST00000381801.5	-	14	2536	c.1775A>T	c.(1774-1776)gAt>gTt	p.D592V	AL590787.1_ENST00000408397.1_RNA|MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	592					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		ATAACGATTATCTGCCGGGCT	0.433																																																0			13											113	111	111					13																	25823461		2203	4300	6503	24721461	SO:0001583	missense	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1775A>T	13.37:g.25823461T>A	ENSP00000371221:p.Asp592Val		24721461	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534568	0.85812	.	.	ENSG00000139505	ENST00000381801;ENST00000319298	D	0.94897	-3.55	5.89	5.89	0.94794	.	0.200169	0.51477	D	0.000088	D	0.92417	0.7593	L	0.29908	0.895	0.80722	D	1	D	0.54397	0.966	P	0.47299	0.543	D	0.93498	0.6842	10	0.87932	D	0	.	16.3158	0.82923	0.0:0.0:0.0:1.0	.	592	Q9Y217	MTMR6_HUMAN	V	592;160	ENSP00000371221:D592V	ENSP00000317987:D160V	D	-	2	0	MTMR6	24721461	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	5.315000	0.65810	2.254000	0.74563	0.533000	0.62120	GAT		0.433	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		A	25823461	T	A	25823461	3	1	158	1	0	0	0	0	1	0	0	0	9947	1435	50	5	94	5	MTMR6	13	25823461	Missense_Mutation	SNP	T	TCGA-13-2071-01A-02D-1526-09	5602363	25823461	89346417	37	8863											
MTMR6	9107	genome.wustl.edu	37	13	25823558	25823558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr13:25823558C>A	ENST00000381801.5	-	14	2439	c.1678G>T	c.(1678-1680)Gaa>Taa	p.E560*	AL590787.1_ENST00000408397.1_RNA|MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	560					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTAGGTGATTCAGGATGAACT	0.388																																																0			13											151	144	146					13																	25823558		2203	4300	6503	24721558	SO:0001587	stop_gained	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1678G>T	13.37:g.25823558C>A	ENSP00000371221:p.Glu560*		24721558	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Nonsense_Mutation	SNP	ENST00000381801.5	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	42	9.767456	0.99259	.	.	ENSG00000139505	ENST00000381801;ENST00000319298	.	.	.	5.78	5.78	0.91487	.	0.581631	0.19373	N	0.115847	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	560;128	.	ENSP00000317987:E128X	E	-	1	0	MTMR6	24721558	0.019000	0.18553	0.905000	0.35620	0.366000	0.29705	1.959000	0.40412	2.894000	0.99253	0.655000	0.94253	GAA		0.388	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		A	25823558	C	A	25823558	4	1	158	1	0	0	0	0	0	1	0	0	9947	835	29	3	191	3	MTMR6	13	25823558	Nonsense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	97	25823558	89346320	38	8864											
HAUS4	54930	genome.wustl.edu	37	14	23420854	23420854	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr14:23420854C>T	ENST00000206474.7	-	5	627	c.375G>A	c.(373-375)atG>atA	p.M125I	RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000490506.1_Start_Codon_SNP_p.M1I|HAUS4_ENST00000555986.1_Intron|HAUS4_ENST00000342454.8_Intron|HAUS4_ENST00000555367.1_Intron|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000541587.1_Missense_Mutation_p.M125I|HAUS4_ENST00000347758.2_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	125					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTAAGAGCCGCATCAGTTCAG	0.512																																																0			14											56	57	56					14																	23420854		2203	4300	6503	22490694	SO:0001583	missense	54930			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.375G>A	14.37:g.23420854C>T	ENSP00000206474:p.Met125Ile		22490694	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	CCDS9580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.401|7.401	0.632800|0.632800	0.14322|0.14322	.|.	.|.	ENSG00000092036|ENSG00000092036	ENST00000553420|ENST00000206474;ENST00000490506;ENST00000541587;ENST00000555040;ENST00000554516;ENST00000557591;ENST00000554406	.|.	.|.	.|.	5.61|5.61	-11.2|-11.2	0.00127|0.00127	.|.	.|0.440276	.|0.26496	.|N	.|0.024042	T|T	0.10294|0.10294	0.0252|0.0252	N|N	0.08118|0.08118	0|0	0.25859|0.25859	N|N	0.983845|0.983845	.|B	.|0.09022	.|0.002	.|B	.|0.11329	.|0.006	T|T	0.04191|0.04191	-1.0970|-1.0970	5|9	.|0.29301	.|T	.|0.29	-1.4571|-1.4571	3.9345|3.9345	0.09299|0.09299	0.1482:0.248:0.4142:0.1895|0.1482:0.248:0.4142:0.1895	.|.	.|125	.|Q9H6D7	.|HAUS4_HUMAN	Y|I	107|125;1;125;125;125;125;1	.|.	.|ENSP00000206474:M125I	C|M	-|-	2|3	0|0	HAUS4|HAUS4	22490694|22490694	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.773000|0.773000	0.43773|0.43773	-3.033000|-3.033000	0.00636|0.00636	-2.856000|-2.856000	0.00329|0.00329	-1.263000|-1.263000	0.01449|0.01449	TGC|ATG		0.512	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			T	23420854	C	T	23420854	3	4	158	1	0	0	0	0	1	0	0	0	6968	710	25	2	740	2	HAUS4	14	23420854	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09		23420854	83928686	39	8865											
DMXL2	23312	genome.wustl.edu	37	15	51773448	51773448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:51773448C>T	ENST00000251076.5	-	24	6142	c.5855G>A	c.(5854-5856)tGg>tAg	p.W1952*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W1952*|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W1316*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1952						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TACATTTGACCATTCAATGCC	0.418																																																0			15											227	217	220					15																	51773448		2196	4293	6489	49560740	SO:0001587	stop_gained	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5855G>A	15.37:g.51773448C>T	ENSP00000251076:p.Trp1952*		49560740	B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	41	8.716838	0.98927	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.12	4.17	0.49024	.	0.119926	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	15.2852	0.73822	0.0:0.8484:0.1516:0.0	.	.	.	.	X	1952;1952;1316	.	ENSP00000251076:W1952X	W	-	2	0	DMXL2	49560740	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	3.344000	0.52174	2.665000	0.90641	0.650000	0.86243	TGG		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51773448	C	T	51773448	4	4	158	1	0	0	0	0	0	1	0	0	4595	595	21	2	3338	2	DMXL2	15	51773448	Nonsense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09		51773448	50757944	40	8866											
RASGRF1	5923	genome.wustl.edu	37	15	79254512	79254512	+	Nonsense_Mutation	SNP	G	G	A	rs201240796	byFrequency	TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:79254512G>A	ENST00000419573.3	-	28	4070	c.3796C>T	c.(3796-3798)Cga>Tga	p.R1266*	RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.R482*|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.R1250*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1266	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTTCTATTCGGAGAGAAGAC	0.468													g|||	2	0.000399361	0	0	5008	,	,		17379	0.001		0.001	False		,,,				2504	0															0			15											87	85	86					15																	79254512		2196	4292	6488	77041567	SO:0001587	stop_gained	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3796C>T	15.37:g.79254512G>A	ENSP00000405963:p.Arg1266*		77041567	F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	42	9.784771	0.99263	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	.	.	.	3.96	3.04	0.35103	.	0.171581	0.37577	N	0.002027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	9.3292	0.38012	0.0:0.0:0.7848:0.2152	.	.	.	.	X	1266;1250;482	.	ENSP00000378224:R1250X	R	-	1	2	RASGRF1	77041567	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.980000	0.56895	0.773000	0.33404	-0.323000	0.08544	CGA		0.468	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79254512	G	A	79254512	4	1	158	1	0	0	0	0	0	1	0	0	13075	1124	39	1	29	1	RASGRF1	15	79254512	Nonsense_Mutation	SNP	G	TCGA-13-2071-01A-02D-1526-09	27481064	79254512	23276880	41	8867											
ADAMTSL3	57188	genome.wustl.edu	37	15	84539699	84539699	+	Silent	SNP	T	T	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:84539699T>C	ENST00000286744.5	+	9	1172	c.948T>C	c.(946-948)gaT>gaC	p.D316D	ADAMTSL3_ENST00000567476.1_Silent_p.D316D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	316						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATGGCTGATTTCATCTTCA	0.418																																																0			15											72	80	77					15																	84539699		2203	4300	6503	82330703	SO:0001819	synonymous_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.948T>C	15.37:g.84539699T>C			82330703	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																				0.418	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		C	84539699	T	C	84539699	2	2	158	1	0	0	0	0	0	0	0	1	276	1490	52	4		4	ADAMTSL3	15	84539699	Silent	SNP	T	TCGA-13-2071-01A-02D-1526-09	5285187	84539699	17991693	42	8868											
ABHD2	11057	genome.wustl.edu	37	15	89694983	89694983	+	Silent	SNP	G	G	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:89694983G>A	ENST00000352732.5	+	4	790	c.270G>A	c.(268-270)agG>agA	p.R90R	ABHD2_ENST00000565973.1_Silent_p.R90R|ABHD2_ENST00000355100.3_Silent_p.R90R	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	90					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAAGGGTGAGGTCGCCACATC	0.512																																					Colon(11;252 417 24570 33239 41878)											0			15											209	179	189					15																	89694983		2200	4299	6499	87495987	SO:0001819	synonymous_variant	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.270G>A	15.37:g.89694983G>A			87495987	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	CCDS10348.1																																																																																				0.512	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			A	89694983	G	A	89694983	2	1	158	1	0	0	0	0	0	0	0	1	82	1252	44	2		2	ABHD2	15	89694983	Silent	SNP	G	TCGA-13-2071-01A-02D-1526-09	5155284	89694983	12836409	43	8869											
CHD2	1106	genome.wustl.edu	37	15	93467709	93467709	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr15:93467709A>G	ENST00000394196.4	+	3	1289	c.221A>G	c.(220-222)aAa>aGa	p.K74R	CHD2_ENST00000557381.1_Missense_Mutation_p.K74R|CHD2_ENST00000536619.1_Missense_Mutation_p.K87R|CHD2_ENST00000420239.2_Missense_Mutation_p.K74R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	74	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCAGGTTCCAAATCCCAGCCA	0.507																																																0			15											143	145	144					15																	93467709		2197	4298	6495	91268713	SO:0001583	missense	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.221A>G	15.37:g.93467709A>G	ENSP00000377747:p.Lys74Arg		91268713	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509228	0.64522	.	.	ENSG00000173575	ENST00000556722;ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.89810	-2.57;-2.57;0.9;2.75	4.82	4.82	0.62117	.	0.000000	0.36134	U	0.002764	D	0.89283	0.6671	N	0.24115	0.695	0.58432	D	0.999996	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	D;D;D;D	0.76071	0.971;0.971;0.987;0.978	D	0.87167	0.2218	10	0.22706	T	0.39	-22.6001	14.5327	0.67936	1.0:0.0:0.0:0.0	.	87;74;74;74	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	R	74;74;74;74;87	ENSP00000377747:K74R;ENSP00000451366:K74R;ENSP00000406581:K74R;ENSP00000443618:K87R	ENSP00000377747:K74R	K	+	2	0	CHD2	91268713	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	8.237000	0.89807	2.031000	0.59945	0.459000	0.35465	AAA		0.507	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		G	93467709	A	G	93467709	3	3	158	1	0	0	0	0	1	0	0	0	3325	14	1	4	227	4	CHD2	15	93467709	Missense_Mutation	SNP	A	TCGA-13-2071-01A-02D-1526-09	3772726	93467709	9063683	44	8870											
ZNF594	84622	genome.wustl.edu	37	17	5086195	5086195	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr17:5086195C>T	ENST00000399604.4	-	1	1497	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	ZNF594_ENST00000575779.1_Missense_Mutation_p.V453I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCAGTATGAACACGATGGTGT	0.418																																																0			17											93	100	98					17																	5086195		2194	4297	6491	5026919	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1357G>A	17.37:g.5086195C>T	ENSP00000382513:p.Val453Ile		5026919	Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.139760	0.00335	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.01015	5.44	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00412	0.0013	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41910	-0.9482	9	0.02654	T	1	.	6.7018	0.23229	0.0:0.3255:0.0:0.6745	.	453	Q96JF6	ZN594_HUMAN	I	453;48	ENSP00000382513:V453I	ENSP00000373874:V48I	V	-	1	0	ZNF594	5026919	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.334000	0.07883	-1.446000	0.01945	-1.797000	0.00622	GTT		0.418	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		T	5086195	C	T	5086195	3	4	158	1	0	0	0	0	1	0	0	0	18024	478	17	2	1070	2	ZNF594	17	5086195	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09		5086195	76109015	45	8871											
TP53	7157	genome.wustl.edu	37	17	7578462	7578467	+	In_Frame_Del	DEL	GCGGGT	GCGGGT	-	rs563378859|rs371524413		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	GCGGGT	GCGGGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr17:7578462_7578467delGCGGGT	ENST00000269305.4	-	5	652_657	c.463_468delACCCGC	c.(463-468)acccgcdel	p.TR155del	TP53_ENST00000455263.2_In_Frame_Del_p.TR155del|TP53_ENST00000413465.2_In_Frame_Del_p.TR155del|TP53_ENST00000420246.2_In_Frame_Del_p.TR155del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_In_Frame_Del_p.TR155del|TP53_ENST00000445888.2_In_Frame_Del_p.TR155del	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	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R156P(24)|p.T155N(22)|p.T155P(17)|p.T155I(14)|p.R156fs*14(11)|p.T155A(10)|p.R156H(10)|p.0?(8)|p.?(5)|p.T155T(5)|p.P152fs*14(5)|p.V157fs*13(3)|p.R156S(3)|p.R156R(3)|p.R156L(3)|p.R156fs*25(3)|p.R156G(3)|p.G154fs*14(2)|p.T155S(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156C(2)|p.V157fs*24(2)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T23P(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.V157fs*9(1)|p.T62P(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.R156_V157insV(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.R156fs*20(1)|p.V157fs*23(1)|p.G154_R156delGTR(1)|p.V157fs*25(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)	TGGCGCGGACGCGGGTGCCGGGCGGG	0.617		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"	194	Substitution - Missense(118)|Deletion - Frameshift(34)|Deletion - In frame(12)|Whole gene deletion(8)|Substitution - coding silent(8)|Insertion - Frameshift(7)|Unknown(5)|Insertion - In frame(1)|Complex - frameshift(1)	lung(36)|breast(25)|ovary(20)|upper_aerodigestive_tract(19)|oesophagus(17)|large_intestine(11)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(9)|stomach(8)|urinary_tract(8)|skin(8)|bone(6)|liver(4)|pancreas(4)|prostate(3)|soft_tissue(2)|kidney(2)|genital_tract(1)|biliary_tract(1)	17	GRCh37	CM942117|CM984589	TP53	M																																				7519192	SO:0001651	inframe_deletion	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.463_468delACCCGC	17.37:g.7578462_7578467delGCGGGT	ENSP00000269305:p.Thr155_Arg156del		7519187	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	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578467	GCGGGT	-	7578462	7	5	158	1	0	1	0	1	0	0	0	0	16381	1074	38	0	830	0	TP53	17	7578462	In_Frame_Del	DEL	GCGGGT	TCGA-13-2071-01A-02D-1526-09	2492267	7578462	73616748	46	8872											
SHMT1	6470	genome.wustl.edu	37	17	18233878	18233878	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr17:18233878T>A	ENST00000316694.3	-	10	1296	c.1162A>T	c.(1162-1164)Acc>Tcc	p.T388S	SHMT1_ENST00000354098.3_Missense_Mutation_p.T349S|SHMT1_ENST00000539052.1_Missense_Mutation_p.T250S|SHMT1_ENST00000352886.6_Missense_Mutation_p.T308S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	388					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CCTGGACAGGTGTTCTTGTTG	0.493																																																0			17											139	118	125					17																	18233878		2203	4300	6503	18174603	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1162A>T	17.37:g.18233878T>A	ENSP00000318868:p.Thr388Ser		18174603	B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415100	0.83449	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.43294	0.95;1.51;0.95;1.51	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.52011	1.625	0.80722	D	1	D;P;P	0.61697	0.99;0.856;0.545	D;B;P	0.63283	0.913;0.437;0.575	T	0.50457	-0.8826	10	0.30854	T	0.27	-41.1801	15.9269	0.79624	0.0:0.0:0.0:1.0	.	388;349;388	A8MYA6;P34896-2;P34896	.;.;GLYC_HUMAN	S	388;163;308;250;349;388	ENSP00000318868:T388S;ENSP00000345881:T308S;ENSP00000440089:T250S;ENSP00000318805:T349S	ENSP00000318868:T388S	T	-	1	0	SHMT1	18174603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.969000	0.87988	2.228000	0.72767	0.533000	0.62120	ACC		0.493	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		A	18233878	T	A	18233878	3	1	158	1	0	0	0	0	1	0	0	0	14288	1696	59	5	301	5	SHMT1	17	18233878	Missense_Mutation	SNP	T	TCGA-13-2071-01A-02D-1526-09	10655416	18233878	62961332	47	8873											
DNM2	1785	genome.wustl.edu	37	19	10935805	10935805	+	Missense_Mutation	SNP	A	A	G			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr19:10935805A>G	ENST00000355667.6	+	18	2046	c.1966A>G	c.(1966-1968)Att>Gtt	p.I656V	DNM2_ENST00000314646.5_Missense_Mutation_p.I656V|DNM2_ENST00000408974.4_Missense_Mutation_p.I652V|DNM2_ENST00000389253.4_Missense_Mutation_p.I656V|DNM2_ENST00000585892.1_Missense_Mutation_p.I656V|DNM2_ENST00000359692.6_Missense_Mutation_p.I652V	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	656	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGTGGAGACCATTCGCAACCT	0.577			"F, N, Splice, Mis, O"		ETP ALL																																		Rec	yes		19	19p13.2	1785	dynamin 2		L	0			19											120	97	105					19																	10935805		2203	4300	6503	10796805	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1966A>G	19.37:g.10935805A>G	ENSP00000347890:p.Ile656Val		10796805	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237818	0.58886	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	T;T;T	0.59772	0.24;0.24;0.24	5.27	5.27	0.74061	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.77486	2.375	0.80722	D	1	B;B;D;B;P;P;B	0.55172	0.329;0.258;0.97;0.148;0.675;0.471;0.15	B;B;P;B;B;B;B	0.51266	0.326;0.247;0.664;0.437;0.163;0.361;0.107	T	0.74423	-0.3670	10	0.87932	D	0	-0.2184	14.1725	0.65519	1.0:0.0:0.0:0.0	.	250;656;385;652;652;656;656	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	V	652;652;656;656;656;263	ENSP00000386192:I652V;ENSP00000373905:I656V;ENSP00000313164:I656V	ENSP00000313164:I656V	I	+	1	0	DNM2	10796805	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.248000	0.95456	1.996000	0.58369	0.460000	0.39030	ATT		0.577	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		G	10935805	A	G	10935805	3	3	158	1	0	0	0	0	1	0	0	0	4672	217	8	4	2179	4	DNM2	19	10935805	Missense_Mutation	SNP	A	TCGA-13-2071-01A-02D-1526-09		10935805	48193178	48	8874											
PPP1R13L	10848	genome.wustl.edu	37	19	45899641	45899641	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr19:45899641C>A	ENST00000418234.2	-	5	844	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.D256Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	256	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TACGCCACGTCCAGGTCAGAC	0.652																																					Pancreas(61;1447 1663 31419 50578)											0			19											69	72	71					19																	45899641		2203	4300	6503	50591481	SO:0001583	missense	10848			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.766G>T	19.37:g.45899641C>A	ENSP00000403902:p.Asp256Tyr		50591481	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442271	0.43326	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.79352	-1.26;-1.26	4.84	3.8	0.43715	.	0.190205	0.45606	D	0.000360	T	0.77445	0.4131	L	0.27053	0.805	0.46499	D	0.999077	D;D	0.89917	1.0;0.998	D;P	0.67382	0.951;0.829	T	0.75657	-0.3242	10	0.42905	T	0.14	.	9.1127	0.36737	0.0:0.8975:0.0:0.1025	.	256;256	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	Y	256	ENSP00000403902:D256Y;ENSP00000354218:D256Y	ENSP00000354218:D256Y	D	-	1	0	PPP1R13L	50591481	1.000000	0.71417	0.975000	0.42487	0.005000	0.04900	3.589000	0.53972	1.039000	0.40074	-0.258000	0.10820	GAC		0.652	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		A	45899641	C	A	45899641	3	1	158	1	0	0	0	0	1	0	0	0	12361	855	30	3	1756	3	PPP1R13L	19	45899641	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	34963836	45899641	13229342	49	8875											
FGF21	26291	genome.wustl.edu	37	19	49259694	49259694	+	Silent	SNP	G	G	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chr19:49259694G>A	ENST00000593756.1	+	2	773	c.201G>A	c.(199-201)ggG>ggA	p.G67G	FUT1_ENST00000601931.1_5'Flank|FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Silent_p.G67G			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	67					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGAGGATGGGACGGTGGGGG	0.642																																																0			19											27	28	28					19																	49259694		2203	4300	6503	53951506	SO:0001819	synonymous_variant	26291			AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.201G>A	19.37:g.49259694G>A			53951506	Q8N683	Silent	SNP	ENST00000593756.1	37	CCDS12734.1																																																																																				0.642	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			A	49259694	G	A	49259694	2	1	158	1	0	0	0	0	0	0	0	1	5850	1161	41	2		2	FGF21	19	49259694	Silent	SNP	G	TCGA-13-2071-01A-02D-1526-09	3360053	49259694	9869289	50	8876											
USP9X	8239	genome.wustl.edu	37	X	40988342	40988342	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:40988342T>A	ENST00000324545.8	+	3	819	c.186T>A	c.(184-186)gaT>gaA	p.D62E	USP9X_ENST00000378308.2_Missense_Mutation_p.D62E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	62					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGCTTGAAGATGAGGAACCTG	0.468																																					Ovarian(172;1807 2695 35459 49286)											0			X											105	96	99					X																	40988342		2203	4300	6503	40873286	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.186T>A	X.37:g.40988342T>A	ENSP00000316357:p.Asp62Glu		40873286	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.513289	0.44660	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02682	4.2;4.21	5.41	2.96	0.34315	.	0.147351	0.64402	N	0.000013	T	0.01029	0.0034	N	0.01352	-0.895	0.46823	D	0.999211	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.52003	-0.8633	10	0.10636	T	0.68	.	7.4989	0.27505	0.0:0.0752:0.1406:0.7842	.	62;62	Q93008-1;Q93008	.;USP9X_HUMAN	E	62	ENSP00000367558:D62E;ENSP00000316357:D62E	ENSP00000316357:D62E	D	+	3	2	USP9X	40873286	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.305000	0.43664	0.197000	0.20387	-0.314000	0.08810	GAT		0.468	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	40988342	T	A	40988342	3	1	158	1	0	0	0	0	1	0	0	0	17090	1461	51	5	192	5	USP9X	23	40988342	Missense_Mutation	SNP	T	TCGA-13-2071-01A-02D-1526-09		40988342	114282218	51	8877											
GDPD2	54857	genome.wustl.edu	37	X	69647010	69647010	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:69647010G>T	ENST00000374382.3	+	9	977	c.726G>T	c.(724-726)atG>atT	p.M242I	GDPD2_ENST00000453994.2_Missense_Mutation_p.M242I|GDPD2_ENST00000536730.1_Missense_Mutation_p.M163I|GDPD2_ENST00000538649.1_Missense_Mutation_p.M163I|GDPD2_ENST00000472623.1_3'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	242	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ACACCCTGATGTCCTTGCGGA	0.587																																																0			X											97	81	87					X																	69647010		2203	4300	6503	69563735	SO:0001583	missense	54857			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.726G>T	X.37:g.69647010G>T	ENSP00000363503:p.Met242Ile		69563735	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621793	0.87460	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.35	5.35	0.76521	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	L	0.39020	1.185	0.46336	D	0.998996	D;B;P;B	0.69078	0.997;0.27;0.786;0.339	D;B;P;B	0.79108	0.992;0.246;0.771;0.205	T	0.21348	-1.0248	9	.	.	.	-19.5305	16.4918	0.84203	0.0:0.0:1.0:0.0	.	242;28;163;242	B4DVC9;B3KUI6;B4DRH4;Q9HCC8	.;.;.;GDPD2_HUMAN	I	242;163;163;242	ENSP00000414019:M242I;ENSP00000445982:M163I;ENSP00000444601:M163I;ENSP00000363503:M242I	.	M	+	3	0	GDPD2	69563735	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.737000	0.91562	2.464000	0.83262	0.600000	0.82982	ATG		0.587	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		T	69647010	G	T	69647010	3	4	158	1	0	0	0	0	1	0	0	0	6324	1377	48	3	756	3	GDPD2	23	69647010	Missense_Mutation	SNP	G	TCGA-13-2071-01A-02D-1526-09	28658668	69647010	85623550	52	8878											
CXCR3	2833	genome.wustl.edu	37	X	70836959	70836959	+	Silent	SNP	A	A	T			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:70836959A>T	ENST00000373693.3	-	2	430	c.363T>A	c.(361-363)tcT>tcA	p.S121S	CXCR3_ENST00000373691.4_Silent_p.S168S	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	121					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TGCAGAGGCCAGAGCCAAAGA	0.597																																																0			X											24	18	20					X																	70836959		2193	4282	6475	70753684	SO:0001819	synonymous_variant	2833			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.363T>A	X.37:g.70836959A>T			70753684	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	ENST00000373693.3	37	CCDS14416.1																																																																																				0.597	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			T	70836959	A	T	70836959	2	4	158	1	0	0	0	0	0	0	0	1	4092	175	7	5		5	CXCR3	23	70836959	Silent	SNP	A	TCGA-13-2071-01A-02D-1526-09	1189949	70836959	84433601	53	8879											
RGAG1	57529	genome.wustl.edu	37	X	109696863	109696863	+	Silent	SNP	A	A	C			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:109696863A>C	ENST00000465301.2	+	3	3264	c.3018A>C	c.(3016-3018)acA>acC	p.T1006T	RGAG1_ENST00000540313.1_Silent_p.T1006T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1006										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCACAAACAACATATACCG	0.488																																																0			X											241	208	219					X																	109696863		2203	4300	6503	109583519	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3018A>C	X.37:g.109696863A>C			109583519	Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																				0.488	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		C	109696863	A	C	109696863	2	2	158	1	0	0	0	0	0	0	0	1	13277	117	5	5		5	RGAG1	23	109696863	Silent	SNP	A	TCGA-13-2071-01A-02D-1526-09	38859904	109696863	45573697	54	8880											
AMOT	154796	genome.wustl.edu	37	X	112022393	112022393	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:112022393C>A	ENST00000524145.1	-	11	3063	c.2989G>T	c.(2989-2991)Gct>Tct	p.A997S	AMOT_ENST00000304758.1_Missense_Mutation_p.A588S|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Missense_Mutation_p.A765S|AMOT_ENST00000371959.3_Missense_Mutation_p.A997S			Q4VCS5	AMOT_HUMAN	angiomotin	997					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGAGCAGGAGCAGAAGCCTGA	0.622																																																0			X											39	36	37					X																	112022393		2203	4300	6503	111909049	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2989G>T	X.37:g.112022393C>A	ENSP00000429013:p.Ala997Ser		111909049	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	9.714	1.157773	0.21454	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.38240	1.15;2.06;2.31;2.06	4.81	2.87	0.33458	.	0.123452	0.37437	N	0.002081	T	0.18718	0.0449	L	0.36672	1.1	0.24151	N	0.995698	P	0.35077	0.483	B	0.27887	0.084	T	0.10847	-1.0612	10	0.10377	T	0.69	-0.1472	5.0879	0.14693	0.0:0.6744:0.2087:0.1169	.	997	Q4VCS5	AMOT_HUMAN	S	588;997;765;997	ENSP00000305557:A588S;ENSP00000361027:A997S;ENSP00000361030:A765S;ENSP00000429013:A997S	ENSP00000305557:A588S	A	-	1	0	AMOT	111909049	0.000000	0.05858	0.996000	0.52242	0.079000	0.17450	0.330000	0.19715	1.099000	0.41499	0.600000	0.82982	GCT		0.622	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		A	112022393	C	A	112022393	3	1	158	1	0	0	0	0	1	0	0	0	582	710	25	3	273	3	AMOT	23	112022393	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	2325530	112022393	43248167	55	8881											
MCF2	4168	genome.wustl.edu	37	X	138669904	138669904	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:138669904C>A	ENST00000370576.4	-	22	2702	c.2493G>T	c.(2491-2493)aaG>aaT	p.K831N	MCF2_ENST00000414978.1_Missense_Mutation_p.K891N|MCF2_ENST00000520602.1_Missense_Mutation_p.K891N|MCF2_ENST00000370573.4_Missense_Mutation_p.K831N|MCF2_ENST00000519895.1_Missense_Mutation_p.K907N|MCF2_ENST00000370578.4_Missense_Mutation_p.K976N|MCF2_ENST00000536274.1_Missense_Mutation_p.K792N|MCF2_ENST00000338585.6_Missense_Mutation_p.K847N	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	831					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAATCTGAAACTTATCCCGTT	0.318																																																0			X											183	167	172					X																	138669904		2203	4300	6503	138497570	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2493G>T	X.37:g.138669904C>A	ENSP00000359608:p.Lys831Asn		138497570	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.677|8.677	0.904225|0.904225	0.17760|0.17760	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.49432|.	1.31;1.21;1.07;1.31;1.31;0.78;1.36;1.18;1.26|.	0.235|0.235	0.235|0.235	0.15431|0.15431	.|.	1.685500|.	0.05724|.	U|.	0.598335|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B;P;P;P;P;P|.	0.48694|.	0.459;0.389;0.013;0.459;0.612;0.459;0.914;0.459|.	B;B;B;B;B;B;B;B|.	0.37601|.	0.25;0.018;0.019;0.196;0.181;0.25;0.254;0.196|.	T|T	0.29274|0.29274	-1.0017|-1.0017	9|4	0.38643|.	T|.	0.18|.	.|.	.|.	.|.	.|.	.|.	907;976;792;831;831;976;847;831|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	N|F	891;831;792;976;891;434;907;831;847|335	ENSP00000427745:K891N;ENSP00000359608:K831N;ENSP00000438155:K792N;ENSP00000359610:K976N;ENSP00000397055:K891N;ENSP00000405848:K434N;ENSP00000430276:K907N;ENSP00000359605:K831N;ENSP00000342204:K847N|.	ENSP00000342204:K847N|.	K|V	-|-	3|1	2|0	MCF2|MCF2	138497570|138497570	0.029000|0.029000	0.19370|0.19370	0.004000|0.004000	0.12327|0.12327	0.325000|0.325000	0.28411|0.28411	0.305000|0.305000	0.19254|0.19254	0.288000|0.288000	0.22398|0.22398	0.292000|0.292000	0.19580|0.19580	AAG|GTT		0.318	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		A	138669904	C	A	138669904	3	1	158	1	0	0	0	0	1	0	0	0	9378	564	20	3	328	3	MCF2	23	138669904	Missense_Mutation	SNP	C	TCGA-13-2071-01A-02D-1526-09	26647511	138669904	16600656	56	8882											
F8	2157	genome.wustl.edu	37	X	154158085	154158085	+	Missense_Mutation	SNP	G	G	A	rs200520711		TCGA-13-2071-01A-02D-1526-09	TCGA-13-2071-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0a32c719-3328-477f-bb95-961de294e4c4	6a0e1ff5-9461-49c7-90a4-6e4ce55f189b	g.chrX:154158085G>A	ENST00000360256.4	-	14	4180	c.3980C>T	c.(3979-3981)aCg>aTg	p.T1327M		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1327	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACTACGTTGCGTGACAAAATT	0.408																																																0			X						G	MET/THR	0,3835		0,0,0,1632,571	203	171	182		3980	-1.4	0	X		182	1,6727		0,0,1,2428,1871	yes	missense	F8	NM_000132.3	81	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	possibly-damaging	1327/2352	154158085	1,10562	2203	4300	6503	153811279	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3980C>T	X.37:g.154158085G>A	ENSP00000353393:p.Thr1327Met		153811279	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	9.120	1.008743	0.19199	0.0	1.49E-4	ENSG00000185010	ENST00000360256	D	0.99113	-5.44	4.83	-1.43	0.08884	.	1.454300	0.04222	N	0.333657	D	0.96605	0.8892	L	0.56769	1.78	0.09310	N	1	P	0.51240	0.943	B	0.32805	0.153	D	0.92441	0.5962	10	0.62326	D	0.03	0.8698	4.739	0.13003	0.4567:0.0:0.3977:0.1456	.	1327	P00451	FA8_HUMAN	M	1327	ENSP00000353393:T1327M	ENSP00000353393:T1327M	T	-	2	0	F8	153811279	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.011000	0.12721	-0.635000	0.05531	-0.865000	0.03005	ACG		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154158085	G	A	154158085	3	1	158	1	0	0	0	0	1	0	0	0	5350	1145	40	1	3155	1	F8	23	154158085	Missense_Mutation	SNP	G	TCGA-13-2071-01A-02D-1526-09	15488181	154158085	1112475	57	8883											
SPEN	23013	broad.mit.edu	37	1	16260337	16260337	+	Silent	SNP	G	G	C			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr1:16260337G>C	ENST00000375759.3	+	11	7806	c.7602G>C	c.(7600-7602)ctG>ctC	p.L2534L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2534	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.L2534L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCAGCACCCTGAGGAAGATTC	0.567																																																1	Substitution - coding silent(1)	ovary(1)	1											206	209	208					1																	16260337		2203	4300	6503	16132924	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7602G>C	1.37:g.16260337G>C			16132924	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.567	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16260337	G	C	16260337	2	2	159	1	0	0	0	0	0	0	0	1	15040	1277	45	3		3	SPEN	1	16260337	Silent	SNP	G	TCGA-20-0987-01A-02W-0486-08		16260337	232990284	1	8884											
CLCNKA	1187	broad.mit.edu	37	1	16359722	16359722	+	Silent	SNP	A	A	C			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr1:16359722A>C	ENST00000331433.4	+	19	2006	c.1987A>C	c.(1987-1989)Aga>Cga	p.R663R	CLCNKA_ENST00000375692.1_Silent_p.R662R|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.R662R|CLCNKA_ENST00000439316.2_Silent_p.R620R			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	663	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.R663R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATCGCGGGGCAGAGCTGTGGG	0.607											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	1											166	147	153					1																	16359722		2203	4300	6503	16232309	SO:0001819	synonymous_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1987A>C	1.37:g.16359722A>C		709	16232309	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	CCDS167.1																																																																																				0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			C	16359722	A	C	16359722	2	2	159	1	0	0	0	0	0	0	0	1	3469	180	7	5		5	CLCNKA	1	16359722	Silent	SNP	A	TCGA-20-0987-01A-02W-0486-08	99385	16359722	232890899	2	8885											
FZD7	8324	broad.mit.edu	37	2	202900538	202900538	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr2:202900538G>A	ENST00000286201.1	+	1	1229	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	390					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A390T(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGCCGTGCCCGCCGTCAAGAC	0.667											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											45	50	49					2																	202900538		2203	4299	6502	202608783	SO:0001583	missense	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1168G>A	2.37:g.202900538G>A	ENSP00000286201:p.Ala390Thr	2133	202608783	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504401	0.85176	.	.	ENSG00000155760	ENST00000286201	D	0.82433	-1.61	5.53	5.53	0.82687	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.90349	0.4365	10	0.39692	T	0.17	.	19.4726	0.94969	0.0:0.0:1.0:0.0	.	390	O75084	FZD7_HUMAN	T	390	ENSP00000286201:A390T	ENSP00000286201:A390T	A	+	1	0	FZD7	202608783	1.000000	0.71417	0.953000	0.39169	0.913000	0.54294	9.862000	0.99564	2.618000	0.88619	0.561000	0.74099	GCC		0.667	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		A	202900538	G	A	202900538	3	1	159	1	0	0	0	0	1	0	0	0	6135	1087	38	1	1170	1	FZD7	2	202900538	Missense_Mutation	SNP	G	TCGA-20-0987-01A-02W-0486-08		202900538	40298835	3	8886											
XIRP1	165904	broad.mit.edu	37	3	39229118	39229118	+	Missense_Mutation	SNP	C	C	T	rs148879455	byFrequency	TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr3:39229118C>T	ENST00000340369.3	-	2	2047	c.1819G>A	c.(1819-1821)Gcc>Acc	p.A607T	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.A607T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	607	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.A607T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCTTTTCGGCCAACTCACTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	3											82	71	75					3																	39229118		2203	4300	6503	39204122	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1819G>A	3.37:g.39229118C>T	ENSP00000343140:p.Ala607Thr		39204122	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	6.198	0.404733	0.11754	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05025	3.51;3.9	4.8	2.8	0.32819	.	0.393695	0.25352	U	0.031287	T	0.06826	0.0174	M	0.70595	2.14	0.09310	N	0.99999	P;P	0.39665	0.651;0.682	B;B	0.32289	0.143;0.117	T	0.27739	-1.0065	10	0.33141	T	0.24	.	7.1759	0.25744	0.3416:0.4921:0.1662:0.0	.	607;607	Q702N8;Q702N8-2	XIRP1_HUMAN;.	T	607	ENSP00000379550:A607T;ENSP00000343140:A607T	ENSP00000343140:A607T	A	-	1	0	XIRP1	39204122	0.953000	0.32496	0.426000	0.26672	0.895000	0.52256	1.480000	0.35464	1.114000	0.41781	0.462000	0.41574	GCC		0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		T	39229118	C	T	39229118	3	4	159	1	0	0	0	0	1	0	0	0	17429	739	26	2	3716	2	XIRP1	3	39229118	Missense_Mutation	SNP	C	TCGA-20-0987-01A-02W-0486-08		39229118	158793312	4	8887											
DUSP7	1849	broad.mit.edu	37	3	52084904	52084904	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr3:52084904G>A	ENST00000495880.1	-	3	1370	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	DUSP7_ENST00000296483.6_Missense_Mutation_p.S345L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	396					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.S345L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCTCACTCGACGCGTGGTT	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											166	129	142					3																	52084904		2203	4300	6503	52059944	SO:0001583	missense	1849			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.1187C>T	3.37:g.52084904G>A	ENSP00000417183:p.Ser396Leu		52059944	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	g	19.45	3.830593	0.71258	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.02525	4.26;4.28	5.75	5.75	0.90469	.	0.165531	0.53938	D	0.000043	T	0.04048	0.0113	L	0.39898	1.24	0.31630	N	0.649209	P	0.34462	0.454	B	0.26969	0.075	T	0.08351	-1.0726	10	0.56958	D	0.05	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	396	Q16829	DUS7_HUMAN	L	396;345	ENSP00000417183:S396L;ENSP00000296483:S345L	ENSP00000296483:S345L	S	-	2	0	DUSP7	52059944	1.000000	0.71417	0.981000	0.43875	0.510000	0.34073	3.538000	0.53597	2.722000	0.93159	0.643000	0.83706	TCG		0.597	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		A	52084904	G	A	52084904	3	1	159	1	0	0	0	0	1	0	0	0	4830	1059	37	1	76	1	DUSP7	3	52084904	Missense_Mutation	SNP	G	TCGA-20-0987-01A-02W-0486-08	12855786	52084904	145937526	5	8888											
HADH	3033	broad.mit.edu	37	4	108955465	108955465	+	Silent	SNP	G	G	A			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr4:108955465G>A	ENST00000309522.3	+	8	1046	c.897G>A	c.(895-897)gaG>gaA	p.E299E	HADH_ENST00000510728.1_3'UTR|HADH_ENST00000603302.1_Silent_p.E316E|HADH_ENST00000454409.2_Silent_p.E303E|HADH_ENST00000505878.1_Silent_p.E303E|HADH_ENST00000403312.1_Silent_p.E375E	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	625					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.E299E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		TGGTAGCAGAGAACAAGTTCG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	4											134	136	135					4																	108955465		2203	4300	6503	109174914	SO:0001819	synonymous_variant	3033			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.897G>A	4.37:g.108955465G>A			109174914	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000309522.3	37	CCDS3678.1																																																																																				0.488	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		A	108955465	G	A	108955465	2	1	159	1	0	0	0	0	0	0	0	1	6942	933	33	2		2	HADH	4	108955465	Silent	SNP	G	TCGA-20-0987-01A-02W-0486-08		108955465	82198811	6	8889											
TMEM200A	114801	broad.mit.edu	37	6	130762600	130762600	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr6:130762600C>G	ENST00000296978.3	+	3	1904	c.1033C>G	c.(1033-1035)Cta>Gta	p.L345V	TMEM200A_ENST00000545622.1_Missense_Mutation_p.L345V|TMEM200A_ENST00000392429.1_Missense_Mutation_p.L345V	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	345						integral component of membrane (GO:0016021)		p.L345V(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAGCACAGTGCTACCAAGGAA	0.517																																																2	Substitution - Missense(2)	ovary(2)	6											86	81	83					6																	130762600		2203	4300	6503	130804293	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1033C>G	6.37:g.130762600C>G	ENSP00000296978:p.Leu345Val		130804293	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	5.582	0.292176	0.10567	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.06	0.68205	.	0.304482	0.30575	N	0.009331	T	0.21801	0.0525	L	0.32530	0.975	0.51482	D	0.999922	B	0.16603	0.018	B	0.17979	0.02	T	0.11542	-1.0583	9	0.05959	T	0.93	.	10.6606	0.45700	0.1323:0.7997:0.0:0.068	.	345	Q86VY9	T200A_HUMAN	V	345	.	ENSP00000296978:L345V	L	+	1	2	TMEM200A	130804293	0.988000	0.35896	0.890000	0.34922	0.135000	0.20990	2.794000	0.47853	1.517000	0.48917	0.655000	0.94253	CTA		0.517	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		G	130762600	C	G	130762600	3	3	159	1	0	0	0	0	1	0	0	0	16123	796	28	3	1035	3	TMEM200A	6	130762600	Missense_Mutation	SNP	C	TCGA-20-0987-01A-02W-0486-08		130762600	40352467	7	8890											
PCLO	27445	broad.mit.edu	37	7	82585727	82585727	+	Silent	SNP	T	T	C			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr7:82585727T>C	ENST00000333891.9	-	5	4879	c.4542A>G	c.(4540-4542)gaA>gaG	p.E1514E	PCLO_ENST00000423517.2_Silent_p.E1514E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1514E(1)|p.E1445E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTACTCTCTTCAACTGAAT	0.398																																																2	Substitution - coding silent(2)	ovary(2)	7											120	109	112					7																	82585727		1875	4109	5984	82423663	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4542A>G	7.37:g.82585727T>C			82423663		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82585727	T	C	82585727	2	2	159	1	0	0	0	0	0	0	0	1	11583	1606	56	4		4	PCLO	7	82585727	Silent	SNP	T	TCGA-20-0987-01A-02W-0486-08		82585727	76552936	8	8891											
RBM28	55131	broad.mit.edu	37	7	127970914	127970914	+	Missense_Mutation	SNP	A	A	C			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr7:127970914A>C	ENST00000223073.2	-	10	1201	c.1087T>G	c.(1087-1089)Tat>Gat	p.Y363D	RBM28_ENST00000415472.2_Missense_Mutation_p.Y222D	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	363	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y363D(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATGCGGACATATTTGAGTTCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											119	106	110					7																	127970914		2203	4300	6503	127758150	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1087T>G	7.37:g.127970914A>C	ENSP00000223073:p.Tyr363Asp		127758150	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311615	0.81358	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.14516	2.5;2.5	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.134339	0.52532	D	0.000080	T	0.24236	0.0587	N	0.25144	0.715	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.969;0.999	T	0.02893	-1.1097	10	0.72032	D	0.01	-11.2769	13.5917	0.61964	1.0:0.0:0.0:0.0	.	222;363	E9PDD9;Q9NW13	.;RBM28_HUMAN	D	363;222	ENSP00000223073:Y363D;ENSP00000390517:Y222D	ENSP00000223073:Y363D	Y	-	1	0	RBM28	127758150	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.700000	0.84556	2.101000	0.63845	0.533000	0.62120	TAT		0.463	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		C	127970914	A	C	127970914	3	2	159	1	0	0	0	0	1	0	0	0	13131	449	16	5	1232	5	RBM28	7	127970914	Missense_Mutation	SNP	A	TCGA-20-0987-01A-02W-0486-08	45385187	127970914	31167749	9	8892											
JPH1	56704	broad.mit.edu	37	8	75156894	75156894	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr8:75156894G>A	ENST00000342232.4	-	4	1815	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	592					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S592F(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CACAGATTTGGAGGGACTCCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	8											197	187	190					8																	75156894		2203	4300	6503	75319448	SO:0001583	missense	56704			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1775C>T	8.37:g.75156894G>A	ENSP00000344488:p.Ser592Phe		75319448	B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432001	0.43122	.	.	ENSG00000104369	ENST00000342232	T	0.57595	0.39	5.38	5.38	0.77491	.	0.450948	0.22918	N	0.054045	T	0.34221	0.0890	N	0.08118	0	0.24652	N	0.993512	B	0.26876	0.162	B	0.24541	0.054	T	0.36601	-0.9741	10	0.66056	D	0.02	.	14.2007	0.65703	0.0:0.0:0.8507:0.1493	.	592	Q9HDC5	JPH1_HUMAN	F	592	ENSP00000344488:S592F	ENSP00000344488:S592F	S	-	2	0	JPH1	75319448	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.669000	0.68081	2.813000	0.96785	0.655000	0.94253	TCC		0.517	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			A	75156894	G	A	75156894	3	1	159	1	0	0	0	0	1	0	0	0	7960	1174	41	2	218	2	JPH1	8	75156894	Missense_Mutation	SNP	G	TCGA-20-0987-01A-02W-0486-08		75156894	71207128	10	8893											
COLEC10	10584	broad.mit.edu	37	8	120118083	120118083	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr8:120118083G>A	ENST00000332843.2	+	6	528	c.487G>A	c.(487-489)Gtg>Atg	p.V163M		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	163	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.V163M(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTACTACATCGTGCAGGAAGA	0.463																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	8											76	59	64					8																	120118083		2203	4300	6503	120187264	SO:0001583	missense	10584			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.487G>A	8.37:g.120118083G>A	ENSP00000332723:p.Val163Met		120187264	Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823101	0.90873	.	.	ENSG00000184374	ENST00000332843	T	0.19250	2.16	5.39	5.39	0.77823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.16041	-1.0416	10	0.33940	T	0.23	-19.6273	19.5182	0.95174	0.0:0.0:1.0:0.0	.	163	Q9Y6Z7	COL10_HUMAN	M	163	ENSP00000332723:V163M	ENSP00000332723:V163M	V	+	1	0	COLEC10	120187264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.622000	0.98378	2.692000	0.91855	0.555000	0.69702	GTG		0.463	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			A	120118083	G	A	120118083	3	1	159	1	0	0	0	0	1	0	0	0	3710	1145	40	1	509	1	COLEC10	8	120118083	Missense_Mutation	SNP	G	TCGA-20-0987-01A-02W-0486-08	44961189	120118083	26245939	11	8894											
GTF3C4	9329	broad.mit.edu	37	9	135554145	135554145	+	Missense_Mutation	SNP	A	A	G			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr9:135554145A>G	ENST00000372146.4	+	2	1703	c.1139A>G	c.(1138-1140)tAt>tGt	p.Y380C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	380					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.Y380C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GTGCCACTTTATCATCCTTAC	0.428																																					Pancreas(142;417 1875 11086 31973 47667)											1	Substitution - Missense(1)	ovary(1)	9											153	150	151					9																	135554145		2203	4300	6503	134543966	SO:0001583	missense	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1139A>G	9.37:g.135554145A>G	ENSP00000361219:p.Tyr380Cys		134543966	Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.923610	0.52653	.	.	ENSG00000125484	ENST00000372146	T	0.46451	0.87	5.61	5.61	0.85477	.	0.241466	0.42294	D	0.000722	T	0.41858	0.1177	N	0.14661	0.345	0.34957	D	0.751792	D	0.63880	0.993	P	0.55965	0.788	T	0.57991	-0.7715	10	0.59425	D	0.04	-22.3592	14.6287	0.68640	1.0:0.0:0.0:0.0	.	380	Q9UKN8	TF3C4_HUMAN	C	380	ENSP00000361219:Y380C	ENSP00000361219:Y380C	Y	+	2	0	GTF3C4	134543966	1.000000	0.71417	0.541000	0.28102	0.985000	0.73830	6.418000	0.73341	2.140000	0.66376	0.402000	0.26972	TAT		0.428	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			G	135554145	A	G	135554145	3	3	159	1	0	0	0	0	1	0	0	0	6875	449	16	4	1145	4	GTF3C4	9	135554145	Missense_Mutation	SNP	A	TCGA-20-0987-01A-02W-0486-08		135554145	5659286	12	8895											
MYOF	26509	broad.mit.edu	37	10	95134674	95134675	+	Frame_Shift_Ins	INS	-	-	T			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	-	-	T	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr10:95134674_95134675insT	ENST00000359263.4	-	23	2145_2146	c.2146_2147insA	c.(2146-2148)acafs	p.T716fs	MYOF_ENST00000371501.4_Frame_Shift_Ins_p.T716fs|MYOF_ENST00000358334.5_Frame_Shift_Ins_p.T703fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.T716fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	716					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.T716fs*20(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCGAGAACTGTGACGTTGGCT	0.45																																																1	Insertion - Frameshift(1)	ovary(1)	10																																								95124665	SO:0001589	frameshift_variant	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2147dupA	10.37:g.95134675_95134675dupT	ENSP00000352208:p.Thr716fs		95124664	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Ins	INS	ENST00000359263.4	37	CCDS41551.1																																																																																				0.45	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		T	95134675	-	T	95134674	7	5	159	1	0	1	1	0	0	0	0	0	10089	1377	48	0	4166	0	MYOF	10	95134674	Frame_Shift_Ins	INS	-	TCGA-20-0987-01A-02W-0486-08		95134674	40400073	13	8896											
CACNA1C	775	broad.mit.edu	37	12	2788717	2788717	+	Silent	SNP	G	G	A	rs200638007	byFrequency	TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr12:2788717G>A	ENST00000347598.4	+	44	5343	c.5343G>A	c.(5341-5343)gcG>gcA	p.A1781A	CACNA1C_ENST00000399601.1_Silent_p.A1733A|CACNA1C_ENST00000399655.1_Silent_p.A1733A|CACNA1C_ENST00000402845.3_Silent_p.A1752A|CACNA1C_ENST00000335762.5_Silent_p.A1758A|CACNA1C_ENST00000399638.1_Silent_p.A1761A|CACNA1C_ENST00000344100.3_Silent_p.A1774A|CACNA1C_ENST00000399621.1_Silent_p.A1752A|CACNA1C_ENST00000399637.1_Silent_p.A1752A|CACNA1C_ENST00000399629.1_Silent_p.A1750A|CACNA1C_ENST00000399606.1_Silent_p.A1753A|CACNA1C_ENST00000327702.7_Silent_p.A1733A|CACNA1C_ENST00000399634.1_Silent_p.A1733A|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Silent_p.A1733A|CACNA1C_ENST00000399644.1_Silent_p.A1733A|CACNA1C_ENST00000399649.1_Silent_p.A1739A|CACNA1C_ENST00000399617.1_Silent_p.A1733A|CACNA1C_ENST00000399641.1_Silent_p.A1733A|CACNA1C_ENST00000406454.3_Silent_p.A1733A|CACNA1C_ENST00000399597.1_Silent_p.A1733A|CACNA1C_ENST00000399595.1_Silent_p.A1741A|CACNA1C_ENST00000399591.1_Silent_p.A1741A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1781					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1268A(1)|p.A1811A(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAACAAGGCGGGCAGCAGCC	0.647													G|||	5	0.000998403	0.0038	0	5008	,	,		16413	0		0	False		,,,				2504	0															2	Substitution - coding silent(2)	ovary(2)	12						G	,,,,,,,,,,,,,,,,,,,,,,	5,4249		0,5,2122	45	57	53		5199,5343,5322,5199,5283,5259,5256,5256,5256,5250,5223,5223,5217,5199,5199,5199,5199,5190,5166,5199,5199,5166,5343	-3.4	0.1	12		53	1,8451		0,1,4225	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,6,6347	AA,AG,GG		0.0118,0.1175,0.0472	,,,,,,,,,,,,,,,,,,,,,,	1733/2139,1781/2187,1774/2180,1733/2174,1761/2167,1753/2159,1752/2158,1752/2158,1752/2158,1750/2156,1741/2147,1741/2147,1739/2145,1733/2139,1733/2139,1733/2139,1733/2139,1730/2136,1722/2128,1733/2139,1733/2174,1722/2199,1781/2222	2788717	6,12700	2127	4226	6353	2658978	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5343G>A	12.37:g.2788717G>A			2658978	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.647	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2788717	G	A	2788717	2	1	159	1	0	0	0	0	0	0	0	1	2540	1103	39	1		1	CACNA1C	12	2788717	Silent	SNP	G	TCGA-20-0987-01A-02W-0486-08		2788717	131063178	14	8897											
SPTB	6710	broad.mit.edu	37	14	65260213	65260213	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr14:65260213G>A	ENST00000389721.5	-	13	2200	c.2168C>T	c.(2167-2169)gCa>gTa	p.A723V	SPTB_ENST00000389720.3_Missense_Mutation_p.A723V|SPTB_ENST00000556626.1_Missense_Mutation_p.A723V|SPTB_ENST00000542895.1_Missense_Mutation_p.A723V|SPTB_ENST00000389722.3_Missense_Mutation_p.A723V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	723					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.A723V(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTCCCACTGTGCCGACACCTC	0.582																																																1	Substitution - Missense(1)	ovary(1)	14											57	54	55					14																	65260213		2203	4300	6503	64329966	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2168C>T	14.37:g.65260213G>A	ENSP00000374371:p.Ala723Val		64329966	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	7.680	0.688810	0.14973	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	4.69	1.69	0.24217	.	0.405063	0.28036	N	0.016851	T	0.25531	0.0621	N	0.13235	0.315	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.13407	0.008;0.009	T	0.13072	-1.0523	10	0.29301	T	0.29	.	6.7048	0.23244	0.0842:0.0:0.4634:0.4524	.	723;727	P11277;Q59FP5	SPTB1_HUMAN;.	V	727;723;723;723;723;723	ENSP00000374372:A723V;ENSP00000451752:A723V;ENSP00000374371:A723V;ENSP00000443882:A723V;ENSP00000374370:A723V	ENSP00000374370:A723V	A	-	2	0	SPTB	64329966	0.000000	0.05858	0.254000	0.24359	0.869000	0.49853	-0.744000	0.04839	0.470000	0.27294	0.561000	0.74099	GCA		0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			A	65260213	G	A	65260213	3	1	159	1	0	0	0	0	1	0	0	0	15120	1319	46	2	4979	2	SPTB	14	65260213	Missense_Mutation	SNP	G	TCGA-20-0987-01A-02W-0486-08		65260213	42089327	15	8898											
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr17:7579374C>G	ENST00000269305.4	-	4	502	c.313G>C	c.(313-315)Ggc>Cgc	p.G105R	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G105R|TP53_ENST00000420246.2_Missense_Mutation_p.G105R|TP53_ENST00000445888.2_Missense_Mutation_p.G105R|TP53_ENST00000359597.4_Missense_Mutation_p.G105R|TP53_ENST00000413465.2_Missense_Mutation_p.G105R	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	CCGTAGCTGCCCTGGTAGGTT	0.627		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"	31	Deletion - Frameshift(12)|Substitution - Missense(8)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(1)	ovary(6)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(3)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	17	GRCh37	CM043949	TP53	M							55	55	55					17																	7579374		2203	4300	6503	7520099	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.313G>C	17.37:g.7579374C>G	ENSP00000269305:p.Gly105Arg		7520099	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649097	0.67358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	4.75	4.75	0.60458	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	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.993;0.995;1.0;0.999;0.997;1.0	D	0.96097	0.9066	10	0.87932	D	0	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	105	ENSP00000410739:G105R;ENSP00000352610:G105R;ENSP00000269305:G105R;ENSP00000398846:G105R;ENSP00000391127:G105R;ENSP00000391478:G105R;ENSP00000424104:G105R;ENSP00000426252:G105R	ENSP00000269305:G105R	G	-	1	0	TP53	7520099	1.000000	0.71417	0.206000	0.23566	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7579374	C	G	7579374	3	3	159	1	0	0	0	0	1	0	0	0	16381	623	22	3	989	3	TP53	17	7579374	Missense_Mutation	SNP	C	TCGA-20-0987-01A-02W-0486-08		7579374	73615836	16	8899											
CDK12	51755	broad.mit.edu	37	17	37671993	37671994	+	Frame_Shift_Ins	INS	-	-	G			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	-	-	G	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr17:37671993_37671994insG	ENST00000447079.4	+	9	2811_2812	c.2778_2779insG	c.(2779-2781)gggfs	p.G927fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G927fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	927	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E928fs*27(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GATGTATTCTTGGGGAACTATT	0.381			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Insertion - Frameshift(1)	ovary(1)	17																																								34925520	SO:0001589	frameshift_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2782dupG	17.37:g.37671997_37671997dupG	ENSP00000398880:p.Gly927fs		34925519	A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	CCDS11337.1																																																																																				0.381	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		G	37671994	-	G	37671993	7	5	159	1	0	1	1	0	0	0	0	0	3128	1799	63	0	2812	0	CDK12	17	37671993	Frame_Shift_Ins	INS	-	TCGA-20-0987-01A-02W-0486-08	30092619	37671993	43523217	17	8900											
BAHCC1	57597	broad.mit.edu	37	17	79430702	79430702	+	Missense_Mutation	SNP	G	G	T			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr17:79430702G>T	ENST00000307745.7	+	32	7686	c.7686G>T	c.(7684-7686)caG>caT	p.Q2562H	RP11-1055B8.8_ENST00000572590.1_RNA														p.Q2562H(1)									ACAAGTGCCAGGTCGTGGCGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	17											46	53	51					17																	79430702		2154	4235	6389	77045297	SO:0001583	missense	57597																														ENST00000307745.7:c.7686G>T	17.37:g.79430702G>T	ENSP00000303486:p.Gln2562His		77045297		Missense_Mutation	SNP	ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.059684	0.76074	.	.	ENSG00000171282	ENST00000307745	D	0.86097	-2.07	4.28	3.29	0.37713	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.86564	0.5963	L	0.40543	1.245	0.45554	D	0.998509	D	0.69078	0.997	D	0.81914	0.995	T	0.83336	-0.0010	9	0.33940	T	0.23	.	8.6806	0.34207	0.1899:0.0:0.8101:0.0	.	2562	Q9P281	BAHC1_HUMAN	H	2562	ENSP00000303486:Q2562H	ENSP00000303486:Q2562H	Q	+	3	2	AC110285.1	77045297	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	1.934000	0.40163	0.995000	0.38917	0.655000	0.94253	CAG		0.672	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	79430702	G	T	79430702	3	4	159	1	0	0	0	0	1	0	0	0	1296	991	35	3	7627	3	BAHCC1	17	79430702	Missense_Mutation	SNP	G	TCGA-20-0987-01A-02W-0486-08	41758709	79430702	1764508	18	8901											
MUC16	94025	broad.mit.edu	37	19	9066447	9066447	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr19:9066447G>C	ENST00000397910.4	-	3	21202	c.20999C>G	c.(20998-21000)tCt>tGt	p.S7000C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7002	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2633C(1)|p.S7000C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGACTGAGAAGGGCCAGG	0.493																																																2	Substitution - Missense(2)	ovary(2)	19											265	246	252					19																	9066447		1991	4178	6169	8927447	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20999C>G	19.37:g.9066447G>C	ENSP00000381008:p.Ser7000Cys		8927447	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.386	-0.125405	0.06795	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.77	0.45	0.16624	.	.	.	.	.	T	0.02380	0.0073	N	0.22421	0.69	.	.	.	P	0.39624	0.681	B	0.38020	0.263	T	0.39961	-0.9588	8	0.87932	D	0	.	7.216	0.25959	0.0:0.0:0.5189:0.4811	.	7000	B5ME49	.	C	7000	ENSP00000381008:S7000C	ENSP00000381008:S7000C	S	-	2	0	MUC16	8927447	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.056000	0.11787	0.202000	0.20498	-0.507000	0.04495	TCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9066447	G	C	9066447	3	2	159	1	0	0	0	0	1	0	0	0	9973	942	33	3	22852	3	MUC16	19	9066447	Missense_Mutation	SNP	G	TCGA-20-0987-01A-02W-0486-08		9066447	50062536	19	8902											
COL5A3	50509	broad.mit.edu	37	19	10091504	10091504	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr19:10091504G>A	ENST00000264828.3	-	34	2622	c.2537C>T	c.(2536-2538)gCc>gTc	p.A846V		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	846	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.A846V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGCCCTGTGGCACCCGGTTG	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											28	28	28					19																	10091504		2203	4300	6503	9952504	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2537C>T	19.37:g.10091504G>A	ENSP00000264828:p.Ala846Val		9952504	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320796	0.60634	.	.	ENSG00000080573	ENST00000264828	D	0.82081	-1.57	4.37	4.37	0.52481	.	0.245701	0.33023	N	0.005374	T	0.73984	0.3657	L	0.35288	1.05	0.34612	D	0.717728	B	0.30851	0.297	B	0.29077	0.098	T	0.77389	-0.2606	10	0.24483	T	0.36	.	14.4398	0.67309	0.0:0.0:1.0:0.0	.	846	P25940	CO5A3_HUMAN	V	846	ENSP00000264828:A846V	ENSP00000264828:A846V	A	-	2	0	COL5A3	9952504	0.998000	0.40836	0.226000	0.23910	0.915000	0.54546	6.211000	0.72182	1.993000	0.58246	0.305000	0.20034	GCC		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		A	10091504	G	A	10091504	3	1	159	1	0	0	0	0	1	0	0	0	3698	1203	42	2	2836	2	COL5A3	19	10091504	Missense_Mutation	SNP	G	TCGA-20-0987-01A-02W-0486-08	1025057	10091504	49037479	20	8903											
ZNF507	22847	broad.mit.edu	37	19	32844300	32844300	+	Silent	SNP	C	C	T			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr19:32844300C>T	ENST00000311921.4	+	2	756	c.564C>T	c.(562-564)tcC>tcT	p.S188S	ZNF507_ENST00000544431.1_Silent_p.S188S|ZNF507_ENST00000355898.5_Silent_p.S188S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S188S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ACACCCAATCCAAAGCCCAAC	0.468																																																1	Substitution - coding silent(1)	ovary(1)	19											78	79	79					19																	32844300		2203	4300	6503	37536140	SO:0001819	synonymous_variant	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.564C>T	19.37:g.32844300C>T			37536140	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	ENST00000311921.4	37	CCDS32985.1																																																																																				0.468	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		T	32844300	C	T	32844300	2	4	159	1	0	0	0	0	0	0	0	1	17953	581	21	2		2	ZNF507	19	32844300	Silent	SNP	C	TCGA-20-0987-01A-02W-0486-08	22752796	32844300	26284683	21	8904											
NOP56	10528	broad.mit.edu	37	20	2636148	2636148	+	Silent	SNP	G	G	A			TCGA-20-0987-01A-02W-0486-08	TCGA-20-0987-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	03f11305-bd44-47aa-b6e2-dc88e8ab4cd2	ee48f0cb-bdb3-47dc-b9a7-800f9a441a6b	g.chr20:2636148G>A	ENST00000329276.5	+	6	1263	c.747G>A	c.(745-747)cgG>cgA	p.R249R	SNORD110_ENST00000408189.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORA51_ENST00000606420.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD57_ENST00000448188.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	249					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.R249R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ATGCCTCACGGTCCTCCATGG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	20											114	105	108					20																	2636148		2203	4300	6503	2584148	SO:0001819	synonymous_variant	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.747G>A	20.37:g.2636148G>A			2584148	Q2M3T6|Q9NQ05	Silent	SNP	ENST00000329276.5	37	CCDS13030.1																																																																																				0.522	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		A	2636148	G	A	2636148	2	1	159	1	0	0	0	0	0	0	0	1	10539	1248	44	2		2	NOP56	20	2636148	Silent	SNP	G	TCGA-20-0987-01A-02W-0486-08		2636148	60389372	22	8905											
ECE1	1889	broad.mit.edu	37	1	21546500	21546500	+	Missense_Mutation	SNP	C	C	T	rs374518508		TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr1:21546500C>T	ENST00000374893.6	-	19	2335	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	ECE1_ENST00000415912.2_Missense_Mutation_p.R738H|ECE1_ENST00000436918.2_Missense_Mutation_p.R722H|ECE1_ENST00000357071.4_Missense_Mutation_p.R742H|ECE1_ENST00000264205.6_Missense_Mutation_p.R751H	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	754			R -> C (in HSCRCDAD; dbSNP:rs3026906). {ECO:0000269|PubMed:9915973}.		bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.R754H(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGGTGGGCAGCGGAAGTGTTC	0.617																																																1	Substitution - Missense(1)	ovary(1)	1						T	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	98	90	93		2261,2252,2213,2225	-0.5	1	1		93	0,8600		0,0,4300	no	missense,missense,missense,missense	ECE1	NM_001397.2,NM_001113349.1,NM_001113348.1,NM_001113347.1	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	754/771,751/768,738/755,742/759	21546500	1,13005	2203	4300	6503	21419087	SO:0001583	missense	1889			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.2261G>A	1.37:g.21546500C>T	ENSP00000364028:p.Arg754His		21419087	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	c	2.806	-0.248166	0.05867	2.27E-4	0.0	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	4.98	-0.503	0.12000	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.472937	0.25711	N	0.028808	T	0.59252	0.2180	N	0.03029	-0.43	0.21697	N	0.999581	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.001	T	0.45571	-0.9252	10	0.25751	T	0.34	-16.7079	11.2084	0.48784	0.0:0.4632:0.0:0.5368	.	722;738;754;742;751	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	H	738;742;754;722;751	ENSP00000405088:R738H;ENSP00000349581:R742H;ENSP00000364028:R754H;ENSP00000388439:R722H;ENSP00000264205:R751H	ENSP00000264205:R751H	R	-	2	0	ECE1	21419087	0.267000	0.24122	0.959000	0.39883	0.052000	0.14988	0.021000	0.13489	-0.584000	0.05913	-2.889000	0.00095	CGC		0.617	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		T	21546500	C	T	21546500	3	4	160	1	0	0	0	0	1	0	0	0	4889	768	27	1	55	1	ECE1	1	21546500	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08		21546500	227704121	1	8906											
HIVEP3	59269	broad.mit.edu	37	1	42049046	42049046	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr1:42049046C>T	ENST00000372583.1	-	4	2308	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	HIVEP3_ENST00000372584.1_Missense_Mutation_p.V475M|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V475M|HIVEP3_ENST00000429157.2_Missense_Mutation_p.V475M	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	475	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V475M(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTGTCCACCACGGCCTCGTTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											78	72	74					1																	42049046		2203	4300	6503	41821633	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1423G>A	1.37:g.42049046C>T	ENSP00000361664:p.Val475Met		41821633	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800850	0.70567	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.82	4.82	0.62117	.	0.000000	0.47093	D	0.000245	T	0.45915	0.1366	L	0.51914	1.62	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.26677	-1.0096	10	0.41790	T	0.15	-1.5088	17.6825	0.88248	0.0:1.0:0.0:0.0	.	475;475	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	M	475	ENSP00000361665:V475M;ENSP00000361664:V475M;ENSP00000247584:V475M;ENSP00000410828:V475M	ENSP00000247584:V475M	V	-	1	0	HIVEP3	41821633	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.918000	0.69996	2.514000	0.84764	0.561000	0.74099	GTG		0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	42049046	C	T	42049046	3	4	160	1	0	0	0	0	1	0	0	0	7188	536	19	1	5821	1	HIVEP3	1	42049046	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	20502546	42049046	207201575	2	8907											
BCAN	63827	broad.mit.edu	37	1	156616813	156616813	+	Nonsense_Mutation	SNP	C	C	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr1:156616813C>G	ENST00000329117.5	+	3	648	c.312C>G	c.(310-312)taC>taG	p.Y104*	RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.Y104*	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	104	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.Y104*(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGAGGCCTACCGGTTCCGCG	0.682																																																1	Substitution - Nonsense(1)	ovary(1)	1											47	35	39					1																	156616813		2203	4299	6502	154883437	SO:0001587	stop_gained	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.312C>G	1.37:g.156616813C>G	ENSP00000331210:p.Tyr104*		154883437	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Nonsense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971182	0.74246	.	.	ENSG00000132692	ENST00000441358;ENST00000255029;ENST00000329117;ENST00000457777;ENST00000361588	.	.	.	4.61	2.71	0.32032	.	0.000000	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0678	9.6616	0.39958	0.0:0.8255:0.0:0.1745	.	.	.	.	X	104	.	ENSP00000255029:Y104X	Y	+	3	2	BCAN	154883437	0.024000	0.19004	1.000000	0.80357	0.496000	0.33645	0.365000	0.20348	0.534000	0.28695	0.455000	0.32223	TAC		0.682	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		G	156616813	C	G	156616813	4	3	160	1	0	0	0	0	0	1	0	0	1345	518	18	3	318	3	BCAN	1	156616813	Nonsense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	114567767	156616813	92633808	3	8908											
INSRR	3645	broad.mit.edu	37	1	156821464	156821464	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr1:156821464C>T	ENST00000368195.3	-	4	1454	c.1058G>A	c.(1057-1059)aGc>aAc	p.S353N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	353					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S353N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGATGAGGCTTCCCTCCAC	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											99	80	86					1																	156821464		2203	4300	6503	155088088	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1058G>A	1.37:g.156821464C>T	ENSP00000357178:p.Ser353Asn		155088088	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795369	0.16327	.	.	ENSG00000027644	ENST00000368195	T	0.78003	-1.14	4.72	3.79	0.43588	EGF receptor, L domain (1);	0.342126	0.25253	N	0.032005	T	0.32675	0.0837	.	.	.	0.27123	N	0.962096	B	0.02656	0.0	B	0.08055	0.003	T	0.17684	-1.0361	9	0.09338	T	0.73	.	6.7177	0.23312	0.0:0.7255:0.0:0.2745	.	353	P14616	INSRR_HUMAN	N	353	ENSP00000357178:S353N	ENSP00000357178:S353N	S	-	2	0	INSRR	155088088	0.998000	0.40836	1.000000	0.80357	0.890000	0.51754	0.516000	0.22817	1.165000	0.42670	0.462000	0.41574	AGC		0.587	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156821464	C	T	156821464	3	4	160	1	0	0	0	0	1	0	0	0	7774	797	28	2	2910	2	INSRR	1	156821464	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	204651	156821464	92429157	4	8909											
USH2A	7399	broad.mit.edu	37	1	216595264	216595264	+	Missense_Mutation	SNP	G	G	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr1:216595264G>T	ENST00000307340.3	-	2	801	c.415C>A	c.(415-417)Cct>Act	p.P139T	USH2A_ENST00000366943.2_Missense_Mutation_p.P139T|USH2A_ENST00000366942.3_Missense_Mutation_p.P139T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	139					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P139T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGAAGGAGGAGAAGAAAAG	0.413										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											110	106	107					1																	216595264		2203	4300	6503	214661887	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.415C>A	1.37:g.216595264G>T	ENSP00000305941:p.Pro139Thr		214661887	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702884	0.68501	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.77098	-1.07;-1.07;-1.07	5.42	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);	0.168341	0.28016	U	0.016924	D	0.83184	0.5199	L	0.59436	1.845	0.43043	D	0.994639	D;D	0.60160	0.983;0.987	P;P	0.58620	0.755;0.842	D	0.85137	0.0978	10	0.72032	D	0.01	.	14.133	0.65268	0.0725:0.0:0.9275:0.0	.	139;139	O75445-2;O75445	.;USH2A_HUMAN	T	139	ENSP00000305941:P139T;ENSP00000355910:P139T;ENSP00000355909:P139T	ENSP00000305941:P139T	P	-	1	0	USH2A	214661887	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	3.225000	0.51246	1.288000	0.44600	0.591000	0.81541	CCT		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216595264	G	T	216595264	3	4	160	1	0	0	0	0	1	0	0	0	17036	1174	41	3	15491	3	USH2A	1	216595264	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	59773800	216595264	32655357	5	8910											
DPYSL5	56896	broad.mit.edu	37	2	27165477	27165477	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr2:27165477C>G	ENST00000288699.6	+	11	1457	c.1299C>G	c.(1297-1299)caC>caG	p.H433Q	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H433Q	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	433					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.H433Q(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGCTGCCACGGCGTGCCAC	0.632											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											55	49	51					2																	27165477		2203	4300	6503	27018981	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1299C>G	2.37:g.27165477C>G	ENSP00000288699:p.His433Gln	792	27018981	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105744	0.77096	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.84873	-1.91;-1.91	6.08	-4.04	0.04010	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	M	0.68952	2.095	0.40768	D	0.983067	P	0.47034	0.889	P	0.46796	0.527	D	0.84516	0.0625	10	0.48119	T	0.1	-22.7308	19.3405	0.94339	0.0:0.892:0.0:0.108	.	433	Q9BPU6	DPYL5_HUMAN	Q	433	ENSP00000288699:H433Q;ENSP00000385549:H433Q	ENSP00000288699:H433Q	H	+	3	2	DPYSL5	27018981	0.001000	0.12720	0.953000	0.39169	0.965000	0.64279	-1.427000	0.02441	-0.671000	0.05274	-1.105000	0.02106	CAC		0.632	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		G	27165477	C	G	27165477	3	3	160	1	0	0	0	0	1	0	0	0	4750	535	19	3	1337	3	DPYSL5	2	27165477	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08		27165477	216033896	6	8911											
SPDYA	245711	broad.mit.edu	37	2	29039006	29039006	+	Missense_Mutation	SNP	T	T	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr2:29039006T>G	ENST00000334056.5	+	3	315	c.126T>G	c.(124-126)aaT>aaG	p.N42K	SPDYA_ENST00000379579.4_Missense_Mutation_p.N42K|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A									p.N42K(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GTAAAGATAATTGGCAAGCAT	0.373																																																1	Substitution - Missense(1)	ovary(1)	2											112	111	111					2																	29039006		2203	4300	6503	28892510	SO:0001583	missense	245711			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"Speedy homologs"	30613	protein-coding gene	gene with protein product		614029	"speedy homolog 1 (Drosophila)", "speedy homolog A (Xenopus laevis)"	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.126T>G	2.37:g.29039006T>G	ENSP00000335628:p.Asn42Lys		28892510		Missense_Mutation	SNP	ENST00000334056.5	37	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736850	0.30774	.	.	ENSG00000163806	ENST00000379579;ENST00000334056;ENST00000449210	.	.	.	4.89	2.51	0.30379	.	0.392314	0.21639	U	0.071364	T	0.23846	0.0577	N	0.19112	0.55	0.23893	N	0.996542	B;B	0.14012	0.002;0.009	B;B	0.15870	0.006;0.014	T	0.16394	-1.0404	9	0.19590	T	0.45	-34.7368	8.2118	0.31488	0.0:0.2299:0.0:0.77	.	42;42	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	K	42	.	ENSP00000335628:N42K	N	+	3	2	SPDYA	28892510	0.945000	0.32115	1.000000	0.80357	0.923000	0.55619	0.500000	0.22562	0.828000	0.34709	0.533000	0.62120	AAT		0.373	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756		G	29039006	T	G	29039006	3	3	160	1	0	0	0	0	1	0	0	0	15029	1490	52	5	128	5	SPDYA	2	29039006	Missense_Mutation	SNP	T	TCGA-20-0990-01A-01W-0486-08	1873529	29039006	214160367	7	8912											
FAHD2A	51011	broad.mit.edu	37	2	96076301	96076301	+	Silent	SNP	C	C	T	rs373080650		TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr2:96076301C>T	ENST00000233379.4	+	4	642	c.489C>T	c.(487-489)gcC>gcT	p.A163A	FAHD2A_ENST00000447036.1_Silent_p.A163A	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	163							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A163A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TGGAGCTGGCCGTGGTCATTG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	2						C		0,4406		0,0,2203	88	65	73		489	-2.6	0.8	2		73	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FAHD2A	NM_016044.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		163/315	96076301	1,13001	2203	4298	6501	95440028	SO:0001819	synonymous_variant	51011			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.489C>T	2.37:g.96076301C>T			95440028	Q9Y3B0	Silent	SNP	ENST00000233379.4	37	CCDS2014.1																																																																																				0.592	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		T	96076301	C	T	96076301	2	4	160	1	0	0	0	0	0	0	0	1	5373	639	23	1		1	FAHD2A	2	96076301	Silent	SNP	C	TCGA-20-0990-01A-01W-0486-08	67037295	96076301	147123072	8	8913											
LCT	3938	broad.mit.edu	37	2	136567188	136567188	+	Missense_Mutation	SNP	C	C	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr2:136567188C>A	ENST00000264162.2	-	8	2739	c.2729G>T	c.(2728-2730)gGc>gTc	p.G910V	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	910	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.G910V(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGAGGACACGCCCCACAGAAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											80	84	83					2																	136567188		2203	4300	6503	136283658	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2729G>T	2.37:g.136567188C>A	ENSP00000264162:p.Gly910Val		136283658	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372726	0.82573	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	D	0.86562	-2.14	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.042683	0.85682	D	0.000000	D	0.95928	0.8674	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96589	0.9436	10	0.87932	D	0	-27.2599	20.0139	0.97470	0.0:1.0:0.0:0.0	.	910	P09848	LPH_HUMAN	V	910;342	ENSP00000264162:G910V	ENSP00000264162:G910V	G	-	2	0	LCT	136283658	1.000000	0.71417	0.994000	0.49952	0.875000	0.50365	6.068000	0.71201	2.724000	0.93272	0.563000	0.77884	GGC		0.532	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136567188	C	A	136567188	3	1	160	1	0	0	0	0	1	0	0	0	8693	739	26	3	3094	3	LCT	2	136567188	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	40490887	136567188	106632185	9	8914											
ITGAV	3685	broad.mit.edu	37	2	187506195	187506195	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr2:187506195G>C	ENST00000261023.3	+	12	1313	c.1039G>C	c.(1039-1041)Gtg>Ctg	p.V347L	ITGAV_ENST00000433736.2_Missense_Mutation_p.V301L|ITGAV_ENST00000374907.3_Missense_Mutation_p.V311L|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	347					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.V347L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GCAGGTCTCAGTGTCTCTACA	0.483																																					Melanoma(58;108 1995 6081)											1	Substitution - Missense(1)	ovary(1)	2											171	168	169					2																	187506195		2203	4300	6503	187214440	SO:0001583	missense	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1039G>C	2.37:g.187506195G>C	ENSP00000261023:p.Val347Leu		187214440	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382078	0.42207	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.23147	1.92;1.92;1.92	5.71	2.38	0.29361	.	0.465832	0.24537	N	0.037674	T	0.21347	0.0514	M	0.67397	2.05	0.32934	D	0.517461	B;B;B	0.14438	0.002;0.01;0.005	B;B;B	0.17722	0.003;0.019;0.003	T	0.20907	-1.0261	10	0.12103	T	0.63	.	5.6725	0.17731	0.1419:0.3931:0.465:0.0	.	301;311;347	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	L	347;347;311;301	ENSP00000261023:V347L;ENSP00000364042:V311L;ENSP00000404291:V301L	ENSP00000261023:V347L	V	+	1	0	ITGAV	187214440	0.915000	0.31059	0.724000	0.30704	0.976000	0.68499	1.526000	0.35964	0.705000	0.31890	0.655000	0.94253	GTG		0.483	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		C	187506195	G	C	187506195	3	2	160	1	0	0	0	0	1	0	0	0	7888	1029	36	3	1136	3	ITGAV	2	187506195	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	50939007	187506195	55693178	10	8915											
OGG1	8536	broad.mit.edu	37	3	9807658	9807658	+	Intron	SNP	G	G	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr3:9807658G>C	ENST00000256460.3	-	3	261				OGG1_ENST00000302036.7_Missense_Mutation_p.D372H|OGG1_ENST00000349503.5_Missense_Mutation_p.D305H|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000383826.5_3'UTR|OGG1_ENST00000302008.8_3'UTR	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I						cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TGGGTTCTGTGACCACTGCTG	0.592																																																0			3											69	58	61					3																	9807658		2203	4300	6503	9782658	SO:0001627	intron_variant	4968			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.84-84C>G	3.37:g.9807658G>C			9782658	Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.968|7.968	0.748550|0.748550	0.15710|0.15710	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000302036;ENST00000349503|ENST00000352937	T;T|.	0.64803|.	-0.12;0.86|.	2.71|2.71	0.81|0.81	0.18732|0.18732	.|.	2.075800|.	0.02615|.	N|.	0.102547|.	T|.	0.15089|.	0.0364|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.26258|.	0.145;0.073|.	B;B|.	0.32928|.	0.155;0.027|.	T|.	0.25606|.	-1.0127|.	10|.	0.66056|.	D|.	0.02|.	.|.	3.9446|3.9446	0.09343|0.09343	0.1453:0.2486:0.6062:0.0|0.1453:0.2486:0.6062:0.0	.|.	305;372|.	E5KPM6;E5KPM5|.	.;.|.	H|S	372;305|210	ENSP00000306561:D372H;ENSP00000303132:D305H|.	ENSP00000306561:D372H|.	D|X	+|+	1|2	0|2	OGG1|OGG1	9782658|9782658	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	0.074000|0.074000	0.14662|0.14662	0.201000|0.201000	0.20466|0.20466	-0.252000|-0.252000	0.11476|0.11476	GAC|TGA		0.592	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		C	9807658	G	C	9807658	1	2	160	0	1	0	0	0	0	0	0	0	10845	1290	45	3		3	OGG1	3	9807658	Intron	SNP	G	TCGA-20-0990-01A-01W-0486-08		9807658	188214772	11	8916											
DOCK3	1795	broad.mit.edu	37	3	51127673	51127673	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr3:51127673C>T	ENST00000266037.9	+	9	627	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	202					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R202C(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGATACAATGCGCCCACGTCA	0.368																																																1	Substitution - Missense(1)	ovary(1)	3											59	54	55					3																	51127673		1881	4108	5989	51102713	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.604C>T	3.37:g.51127673C>T	ENSP00000266037:p.Arg202Cys		51102713	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963198	0.74016	.	.	ENSG00000088538	ENST00000266037	T	0.05855	3.38	5.5	5.5	0.81552	.	0.049292	0.85682	D	0.000000	T	0.29882	0.0747	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01146	-1.1437	10	0.66056	D	0.02	.	19.7537	0.96281	0.0:1.0:0.0:0.0	.	202	Q8IZD9	DOCK3_HUMAN	C	202	ENSP00000266037:R202C	ENSP00000266037:R202C	R	+	1	0	DOCK3	51102713	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.816000	0.48026	2.736000	0.93811	0.591000	0.81541	CGC		0.368	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		T	51127673	C	T	51127673	3	4	160	1	0	0	0	0	1	0	0	0	4688	768	27	1	638	1	DOCK3	3	51127673	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	41320015	51127673	146894757	12	8917											
PTPRG	5793	broad.mit.edu	37	3	62189104	62189104	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr3:62189104C>G	ENST00000474889.1	+	12	2012	c.1635C>G	c.(1633-1635)agC>agG	p.S545R	PTPRG_ENST00000295874.10_Missense_Mutation_p.S545R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	545					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S545R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCTCAGCCAGCAAGCAGGCGG	0.692																																																1	Substitution - Missense(1)	ovary(1)	3											16	14	15					3																	62189104		2203	4294	6497	62164144	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1635C>G	3.37:g.62189104C>G	ENSP00000418112:p.Ser545Arg		62164144	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356945	0.24598	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.52295	0.71;0.67	4.39	3.5	0.40072	.	0.343749	0.32719	N	0.005731	T	0.41351	0.1155	L	0.54323	1.7	0.32360	N	0.557336	B;B	0.30973	0.302;0.201	B;B	0.32465	0.146;0.034	T	0.56498	-0.7969	10	0.62326	D	0.03	.	8.3822	0.32479	0.0:0.8195:0.0:0.1805	.	545;545	P23470-2;P23470	.;PTPRG_HUMAN	R	545	ENSP00000418112:S545R;ENSP00000295874:S545R	ENSP00000295874:S545R	S	+	3	2	PTPRG	62164144	1.000000	0.71417	0.997000	0.53966	0.356000	0.29392	2.760000	0.47581	2.162000	0.67917	0.591000	0.81541	AGC		0.692	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		G	62189104	C	G	62189104	3	3	160	1	0	0	0	0	1	0	0	0	12805	709	25	3	1681	3	PTPRG	3	62189104	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	11061431	62189104	135833326	13	8918											
UBA3	9039	broad.mit.edu	37	3	69111278	69111278	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr3:69111278C>T	ENST00000361055.4	-	10	800	c.746G>A	c.(745-747)tGt>tAt	p.C249Y	UBA3_ENST00000415609.2_Missense_Mutation_p.C208Y|UBA3_ENST00000349511.4_Missense_Mutation_p.C235Y|UBA3_ENST00000540295.1_Missense_Mutation_p.C72Y	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	249					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)	p.C249Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ATACTCAATACAGTGTTCTGG	0.338																																																1	Substitution - Missense(1)	ovary(1)	3											120	121	120					3																	69111278		2203	4300	6503	69193968	SO:0001583	missense	9039			AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"Ubiquitin-like modifier activating enzymes"	12470	protein-coding gene	gene with protein product	"NEDD8-activating enzyme E1 catalytic subunit", "NEDD8-activating enzyme E1 subunit 2"	603172	"ubiquitin-activating enzyme E1C (homologous to yeast UBA3)", "ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.746G>A	3.37:g.69111278C>T	ENSP00000354340:p.Cys249Tyr		69193968	A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853572	0.91355	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.74	5.74	0.90152	Ubiquitin activating enzyme, alpha domain (1);Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85312	0.1079	10	0.87932	D	0	-7.925	19.9254	0.97100	0.0:1.0:0.0:0.0	.	235;249	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	Y	208;249;235;72	ENSP00000400294:C208Y;ENSP00000354340:C249Y;ENSP00000340041:C235Y;ENSP00000440085:C72Y	ENSP00000340041:C235Y	C	-	2	0	UBA3	69193968	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.769000	0.85360	2.701000	0.92244	0.655000	0.94253	TGT		0.338	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		T	69111278	C	T	69111278	3	4	160	1	0	0	0	0	1	0	0	0	16829	478	17	2	681	2	UBA3	3	69111278	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	6922174	69111278	128911152	14	8919											
ZBTB38	253461	broad.mit.edu	37	3	141163991	141163991	+	Missense_Mutation	SNP	A	A	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr3:141163991A>G	ENST00000514251.1	+	4	3040	c.2761A>G	c.(2761-2763)Aac>Gac	p.N921D	ZBTB38_ENST00000441582.2_Missense_Mutation_p.N921D|ZBTB38_ENST00000321464.5_Missense_Mutation_p.N922D					zinc finger and BTB domain containing 38									p.N921D(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCCTTACTACAACTACAAACC	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											45	47	46					3																	141163991		1930	4130	6060	142646681	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2761A>G	3.37:g.141163991A>G	ENSP00000426387:p.Asn921Asp		142646681		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727692	0.69074	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09255	3.0;3.0;3.0	5.28	5.28	0.74379	.	0.135862	0.49305	D	0.000147	T	0.29620	0.0739	M	0.65975	2.015	0.38727	D	0.953578	D;D	0.76494	0.999;0.999	D;D	0.65987	0.94;0.94	T	0.05146	-1.0903	9	.	.	.	-38.5744	15.2009	0.73136	1.0:0.0:0.0:0.0	.	922;921	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	D	921;921;922	ENSP00000426387:N921D;ENSP00000406955:N921D;ENSP00000372635:N922D	.	N	+	1	0	ZBTB38	142646681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.256000	0.65468	1.997000	0.58415	0.528000	0.53228	AAC		0.478	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			G	141163991	A	G	141163991	3	3	160	1	0	0	0	0	1	0	0	0	17539	130	5	4	2763	4	ZBTB38	3	141163991	Missense_Mutation	SNP	A	TCGA-20-0990-01A-01W-0486-08	72052713	141163991	56858439	15	8920											
EIF2A	83939	broad.mit.edu	37	3	150289799	150289799	+	Missense_Mutation	SNP	G	G	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr3:150289799G>T	ENST00000460851.1	+	10	975	c.866G>T	c.(865-867)tGt>tTt	p.C289F	EIF2A_ENST00000406576.3_Missense_Mutation_p.C228F|EIF2A_ENST00000487799.1_Missense_Mutation_p.C264F|EIF2A_ENST00000383043.3_Missense_Mutation_p.C75F|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.C284F|SERP1_ENST00000479209.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	289					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.C264F(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACTGAGTTTTGTGCTGTATAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	3											82	77	79					3																	150289799		1838	4091	5929	151772489	SO:0001583	missense	83939			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.866G>T	3.37:g.150289799G>T	ENSP00000417229:p.Cys289Phe		151772489	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	CCDS46935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.436774|4.436774	0.83885|0.83885	.|.	.|.	ENSG00000144895|ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043|ENST00000465535	T;T;T;T;T|.	0.42900|.	1.52;1.67;1.49;3.52;0.96|.	5.98|5.98	5.98|5.98	0.97165|0.97165	WD40/YVTN repeat-like-containing domain (1);Translation initiation factor 2A, beta propellor-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83008|0.83008	0.5161|0.5161	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.984;0.965|.	D;D;D|.	0.87578|.	0.998;0.958;0.943|.	T|T	0.82627|0.82627	-0.0364|-0.0364	10|5	0.72032|.	D|.	0.01|.	-21.1703|-21.1703	20.4434|20.4434	0.99119|0.99119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	228;264;289|.	B4DF96;B4DQ14;Q9BY44|.	.;.;EIF2A_HUMAN|.	F|L	264;289;228;284;75|63	ENSP00000420537:C264F;ENSP00000417229:C289F;ENSP00000385292:C228F;ENSP00000273435:C284F;ENSP00000372513:C75F|.	ENSP00000273435:C284F|.	C|V	+|+	2|1	0|0	EIF2A|EIF2A	151772489|151772489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.415000|9.415000	0.97375|0.97375	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.348	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		T	150289799	G	T	150289799	3	4	160	1	0	0	0	0	1	0	0	0	4995	1377	48	3	904	3	EIF2A	3	150289799	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	9125808	150289799	47732631	16	8921											
DNAH5	1767	broad.mit.edu	37	5	13770874	13770874	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr5:13770874G>A	ENST00000265104.4	-	56	9693	c.9589C>T	c.(9589-9591)Cgg>Tgg	p.R3197W	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3197	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3197W(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCAGGGTCCGCACCTCCACA	0.458									Kartagener syndrome																																							2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	5											87	81	83					5																	13770874		2203	4300	6503	13823874	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9589C>T	5.37:g.13770874G>A	ENSP00000265104:p.Arg3197Trp		13823874	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139623	0.56936	.	.	ENSG00000039139	ENST00000265104	T	0.24151	1.87	5.81	5.81	0.92471	.	0.292466	0.38605	N	0.001629	T	0.29256	0.0728	L	0.41492	1.28	0.25247	N	0.989708	P	0.40619	0.724	B	0.40741	0.339	T	0.14868	-1.0457	10	0.66056	D	0.02	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	3197	Q8TE73	DYH5_HUMAN	W	3197	ENSP00000265104:R3197W	ENSP00000265104:R3197W	R	-	1	2	DNAH5	13823874	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	5.598000	0.67585	2.738000	0.93877	0.655000	0.94253	CGG		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13770874	G	A	13770874	3	1	160	1	0	0	0	0	1	0	0	0	4604	1086	38	1	4381	1	DNAH5	5	13770874	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08		13770874	167144386	17	8922											
MSH3	4437	broad.mit.edu	37	5	79968144	79968144	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr5:79968144G>C	ENST00000265081.6	+	5	954	c.874G>C	c.(874-876)Gtt>Ctt	p.V292L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	292	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.V283L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAGACTGTTTGTTCATGTACG	0.413								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)											1	Substitution - Missense(1)	ovary(1)	5											106	102	103					5																	79968144		2203	4300	6503	80003900	SO:0001583	missense	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.874G>C	5.37:g.79968144G>C	ENSP00000265081:p.Val292Leu		80003900	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251903	0.80135	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.89050	-2.46	5.69	5.69	0.88448	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	M	0.66378	2.025	0.47819	D	0.999525	D	0.89917	1.0	D	0.87578	0.998	D	0.92881	0.6323	9	.	.	.	-21.6311	19.4293	0.94758	0.0:0.0:1.0:0.0	.	292	P20585	MSH3_HUMAN	L	292;283	ENSP00000265081:V292L	.	V	+	1	0	MSH3	80003900	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.526000	0.81920	2.697000	0.92050	0.650000	0.86243	GTT		0.413	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		C	79968144	G	C	79968144	3	2	160	1	0	0	0	0	1	0	0	0	9871	1377	48	3	892	3	MSH3	5	79968144	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	66197270	79968144	100947116	18	8923											
FBN2	2201	broad.mit.edu	37	5	127624902	127624902	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr5:127624902C>T	ENST00000508053.1	-	58	7528	c.6554G>A	c.(6553-6555)gGt>gAt	p.G2185D	FBN2_ENST00000262464.4_Missense_Mutation_p.G2185D			P35556	FBN2_HUMAN	fibrillin 2	2185	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2185D(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATACATTGACCATTTGAACA	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											164	154	157					5																	127624902		2203	4300	6503	127652801	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6554G>A	5.37:g.127624902C>T	ENSP00000424571:p.Gly2185Asp		127652801	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863924	0.91511	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92299	-3.01;-3.01	5.76	4.84	0.62591	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.093273	0.46758	D	0.000265	D	0.96534	0.8869	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96817	0.9601	10	0.87932	D	0	.	16.7681	0.85528	0.1292:0.8708:0.0:0.0	.	2185	P35556	FBN2_HUMAN	D	2185	ENSP00000262464:G2185D;ENSP00000424571:G2185D	ENSP00000262464:G2185D	G	-	2	0	FBN2	127652801	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.735000	0.68587	2.882000	0.98803	0.655000	0.94253	GGT		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127624902	C	T	127624902	3	4	160	1	0	0	0	0	1	0	0	0	5703	507	18	2	2240	2	FBN2	5	127624902	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	47656758	127624902	53290358	19	8924											
GPX6	257202	broad.mit.edu	37	6	28483444	28483444	+	Missense_Mutation	SNP	T	T	G	rs199611213		TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr6:28483444T>G	ENST00000474923.1	-	1	120	c.77A>C	c.(76-78)cAa>cCa	p.Q26P	GPX6_ENST00000483058.1_Intron|GPX6_ENST00000361902.1_Missense_Mutation_p.Q26P			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	26					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.Q26P(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CTTCCTATTTTGAGGCTTTAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	6						T	PRO/GLN	0,3948		0,0,1974	80	88	85		77	2.1	0	6		85	2,8300		0,2,4149	yes	missense	GPX6	NM_182701.1	76	0,2,6123	GG,GT,TT		0.0241,0.0,0.0163	benign	26/222	28483444	2,12248	1974	4151	6125	28591423	SO:0001583	missense	257202				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"glutathione peroxidase pseudogene 3"	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.77A>C	6.37:g.28483444T>G	ENSP00000417364:p.Gln26Pro		28591423	Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	37		.	.	.	.	.	.	.	.	.	.	T	9.218	1.032585	0.19590	0.0	2.41E-4	ENSG00000198704	ENST00000361902;ENST00000474923	T;T	0.10860	4.16;2.83	3.31	2.12	0.27331	.	1.218500	0.06108	N	0.666733	T	0.04048	0.0113	L	0.43152	1.355	0.09310	N	1	B	0.28208	0.203	B	0.33339	0.162	T	0.46512	-0.9186	10	0.38643	T	0.18	.	6.6537	0.22977	0.0:0.0:0.2446:0.7554	.	26	P59796	GPX6_HUMAN	P	26	ENSP00000354581:Q26P;ENSP00000417364:Q26P	ENSP00000354581:Q26P	Q	-	2	0	GPX6	28591423	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	1.416000	0.34759	0.617000	0.30160	0.533000	0.62120	CAA		0.532	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5			G	28483444	T	G	28483444	3	3	160	1	0	0	0	0	1	0	0	0	6744	1812	63	5	608	5	GPX6	6	28483444	Missense_Mutation	SNP	T	TCGA-20-0990-01A-01W-0486-08		28483444	142631623	20	8925											
MSH5	4439	broad.mit.edu	37	6	31727879	31727879	+	Missense_Mutation	SNP	G	G	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr6:31727879G>T	ENST00000375755.3	+	19	1984	c.1698G>T	c.(1696-1698)atG>atT	p.M566I	MSH5_ENST00000395853.1_Missense_Mutation_p.M240I|MSH5_ENST00000431848.2_Missense_Mutation_p.M265I|MSH5_ENST00000534153.4_Missense_Mutation_p.M583I|SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.M583I|MSH5_ENST00000375703.3_Missense_Mutation_p.M566I|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.M566I|MSH5_ENST00000375742.3_Missense_Mutation_p.M583I|MSH5_ENST00000375740.3_Missense_Mutation_p.M583I	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	566					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.M583I(1)		breast(1)|ovary(2)|skin(2)	5						ATCCTCTGATGGAACTCTGTG	0.547								Direct reversal of damage;Mismatch excision repair (MMR)																																								1	Substitution - Missense(1)	ovary(1)	6											110	113	112					6																	31727879		2203	4300	6503	31835858	SO:0001583	missense	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1698G>T	6.37:g.31727879G>T	ENSP00000364908:p.Met566Ile		31835858	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720070	0.48728	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	6.06	6.06	0.98353	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.042347	0.85682	D	0.000000	T	0.49287	0.1548	N	0.02985	-0.445	0.34244	D	0.678015	B;B;B;B;B	0.21688	0.059;0.027;0.034;0.0;0.046	B;B;B;B;B	0.23716	0.048;0.029;0.048;0.001;0.029	T	0.55366	-0.8152	9	0.07990	T	0.79	-19.4076	18.1147	0.89549	0.0:0.0:1.0:0.0	.	251;583;566;566;583	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	I	566;583;98;566;583;566;583;265;240	ENSP00000364908:M566I;ENSP00000364894:M583I;ENSP00000364903:M566I;ENSP00000431693:M583I;ENSP00000364855:M566I;ENSP00000364892:M583I;ENSP00000416784:M265I;ENSP00000379194:M240I	ENSP00000364855:M566I	M	+	3	0	MSH5	31835858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.584000	0.74057	2.882000	0.98803	0.655000	0.94253	ATG		0.547	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			T	31727879	G	T	31727879	3	4	160	1	0	0	0	0	1	0	0	0	9873	1348	47	3	1819	3	MSH5	6	31727879	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	3244435	31727879	139387188	21	8926											
PRPH2	5961	broad.mit.edu	37	6	42689522	42689522	+	Missense_Mutation	SNP	T	T	C	rs62645926		TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr6:42689522T>C	ENST00000230381.5	-	1	790	c.551A>G	c.(550-552)tAc>tGc	p.Y184C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	184			Y -> S (in cone-rod dystrophy).		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.Y184C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AAAGTCCAGGTAGCGATTGCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	6	GRCh37	CM961239	PRPH2	M							151	145	147					6																	42689522		2203	4300	6503	42797500	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.551A>G	6.37:g.42689522T>C	ENSP00000230381:p.Tyr184Cys		42797500	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306547	0.81247	.	.	ENSG00000112619	ENST00000230381	T	0.79940	-1.32	5.63	5.63	0.86233	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91923	0.5549	10	0.87932	D	0	.	16.1339	0.81465	0.0:0.0:0.0:1.0	.	184	P23942	PRPH2_HUMAN	C	184	ENSP00000230381:Y184C	ENSP00000230381:Y184C	Y	-	2	0	PRPH2	42797500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.927000	0.87577	2.271000	0.75665	0.533000	0.62120	TAC		0.498	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		C	42689522	T	C	42689522	3	2	160	1	0	0	0	0	1	0	0	0	12580	1638	57	4	501	4	PRPH2	6	42689522	Missense_Mutation	SNP	T	TCGA-20-0990-01A-01W-0486-08	10961643	42689522	128425545	22	8927											
TIAM2	26230	broad.mit.edu	37	6	155566795	155566795	+	Silent	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr6:155566795C>T	ENST00000461783.3	+	21	4855	c.3582C>T	c.(3580-3582)taC>taT	p.Y1194Y	TIAM2_ENST00000360366.4_Silent_p.Y1218Y|TIAM2_ENST00000275246.7_Silent_p.Y119Y|TIAM2_ENST00000456144.1_Silent_p.Y1194Y|TIAM2_ENST00000529824.2_Silent_p.Y1194Y|TIAM2_ENST00000318981.5_Silent_p.Y1194Y|TIAM2_ENST00000456877.2_Silent_p.Y506Y|TIAM2_ENST00000528391.2_Silent_p.Y530Y|TIAM2_ENST00000367174.2_Silent_p.Y570Y			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1194	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y1194Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCCTTTATTACGCGGACCACT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	6											241	254	250					6																	155566795		2203	4300	6503	155608487	SO:0001819	synonymous_variant	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3582C>T	6.37:g.155566795C>T			155608487	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.413	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		T	155566795	C	T	155566795	2	4	160	1	0	0	0	0	0	0	0	1	15891	547	19	1		1	TIAM2	6	155566795	Silent	SNP	C	TCGA-20-0990-01A-01W-0486-08	112877273	155566795	15548272	23	8928											
POLD2	5425	broad.mit.edu	37	7	44161501	44161501	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr7:44161501G>C	ENST00000406581.2	-	3	801	c.152C>G	c.(151-153)gCc>gGc	p.A51G	POLD2_ENST00000481763.1_5'Flank|POLD2_ENST00000452185.1_Missense_Mutation_p.A51G|POLD2_ENST00000223361.3_Missense_Mutation_p.A51G	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	51					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.A51G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						ATAAATGTGGGCATACTGCCG	0.587																																																1	Substitution - Missense(1)	ovary(1)	7											85	73	77					7																	44161501		2203	4300	6503	44128026	SO:0001583	missense	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.152C>G	7.37:g.44161501G>C	ENSP00000386105:p.Ala51Gly		44128026	A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011139	0.93346	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436844;ENST00000433715;ENST00000456038;ENST00000418438	T;T;T;T	0.53857	0.81;0.79;0.81;0.6	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	L	0.51914	1.62	0.80722	D	1	D;D	0.63046	0.963;0.992	P;P	0.57425	0.491;0.82	T	0.57682	-0.7769	10	0.26408	T	0.33	-18.229	18.4041	0.90528	0.0:0.0:1.0:0.0	.	51;51	P49005;F8W8R3	DPOD2_HUMAN;.	G	51	ENSP00000386105:A51G;ENSP00000223361:A51G;ENSP00000395231:A51G;ENSP00000416203:A51G	ENSP00000223361:A51G	A	-	2	0	POLD2	44128026	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.081000	0.94049	2.434000	0.82447	0.563000	0.77884	GCC		0.587	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		C	44161501	G	C	44161501	3	2	160	1	0	0	0	0	1	0	0	0	12191	1203	42	3	1297	3	POLD2	7	44161501	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08		44161501	114977162	24	8929											
ZNF479	90827	broad.mit.edu	37	7	57194380	57194380	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr7:57194380C>T	ENST00000331162.4	-	3	355	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E29*(1)|p.E29K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATTGCCATTCCTCCAGAGAG	0.438																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|lung(1)	7											49	50	50					7																	57194380		2172	4276	6448	57198322	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.85G>A	7.37:g.57194380C>T	ENSP00000333776:p.Glu29Lys		57198322		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	14.37	2.515141	0.44763	.	.	ENSG00000185177	ENST00000331162	T	0.12255	2.7	1.25	1.25	0.21368	Krueppel-associated box (4);	.	.	.	.	T	0.50667	0.1629	H	0.99011	4.4	0.09310	N	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.40515	-0.9559	9	0.87932	D	0	.	8.0193	0.30400	0.0:1.0:0.0:0.0	.	29	Q96JC4	ZN479_HUMAN	K	29	ENSP00000333776:E29K	ENSP00000333776:E29K	E	-	1	0	ZNF479	57198322	0.001000	0.12720	0.051000	0.19133	0.007000	0.05969	0.049000	0.14099	0.669000	0.31146	0.393000	0.25936	GAA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		T	57194380	C	T	57194380	3	4	160	1	0	0	0	0	1	0	0	0	17933	864	30	2	1501	2	ZNF479	7	57194380	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	13032879	57194380	101944283	25	8930											
MGAM	8972	broad.mit.edu	37	7	141764312	141764312	+	Missense_Mutation	SNP	C	C	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr7:141764312C>A	ENST00000549489.2	+	37	4569	c.4474C>A	c.(4474-4476)Ccc>Acc	p.P1492T	MGAM_ENST00000475668.2_Missense_Mutation_p.P1492T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1492	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1492T(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGACCAGACCCACATACGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											21	23	22					7																	141764312		1987	4158	6145	141410781	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4474C>A	7.37:g.141764312C>A	ENSP00000447378:p.Pro1492Thr		141410781	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443801	0.63067	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.90900	-2.75	4.22	4.22	0.49857	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.92130	0.7505	M	0.69185	2.1	0.51012	D	0.999909	P	0.49783	0.928	P	0.51193	0.662	D	0.93153	0.6551	9	0.66056	D	0.02	.	15.4323	0.75112	0.0:1.0:0.0:0.0	.	1492	O43451	MGA_HUMAN	T	1492;1492;1369	ENSP00000447378:P1492T	ENSP00000316431:P1369T	P	+	1	0	MGAM	141410781	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	5.911000	0.69939	1.888000	0.54679	0.306000	0.20318	CCC		0.527	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141764312	C	A	141764312	3	1	160	1	0	0	0	0	1	0	0	0	9541	507	18	3	4616	3	MGAM	7	141764312	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	84569932	141764312	17374351	26	8931											
RALYL	138046	broad.mit.edu	37	8	85686876	85686876	+	Missense_Mutation	SNP	T	T	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr8:85686876T>C	ENST00000521268.1	+	3	1424	c.319T>C	c.(319-321)Tct>Cct	p.S107P	RALYL_ENST00000521376.1_Missense_Mutation_p.S34P|RALYL_ENST00000521695.1_Missense_Mutation_p.S107P|RALYL_ENST00000522455.1_Missense_Mutation_p.S107P|RALYL_ENST00000517638.1_Missense_Mutation_p.S120P|RALYL_ENST00000518566.1_Missense_Mutation_p.S107P|RALYL_ENST00000523850.1_Missense_Mutation_p.S34P	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	107							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S107P(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAGGCCCCTTTCTGCACTTTA	0.358																																																1	Substitution - Missense(1)	ovary(1)	8											64	62	63					8																	85686876		1817	4090	5907	85849431	SO:0001583	missense	138046				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.319T>C	8.37:g.85686876T>C	ENSP00000430367:p.Ser107Pro		85849431	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277846	0.80692	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.22539	2.75;2.75;2.75;2.8;2.74;2.32;1.95	5.78	5.78	0.91487	.	0.076274	0.64402	D	0.000006	T	0.37892	0.1020	M	0.66939	2.045	0.30254	N	0.793841	B;B;D;B;B	0.57571	0.006;0.026;0.98;0.049;0.026	B;B;P;B;B	0.55303	0.015;0.022;0.773;0.072;0.022	T	0.44726	-0.9309	10	0.66056	D	0.02	-5.9657	13.623	0.62149	0.0:0.0:0.0:1.0	.	107;107;34;120;107	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	P	107;107;107;107;120;34;34	ENSP00000430394:S107P;ENSP00000428667:S107P;ENSP00000430367:S107P;ENSP00000430065:S107P;ENSP00000430128:S120P;ENSP00000428807:S34P;ENSP00000428310:S34P	ENSP00000430128:S120P	S	+	1	0	RALYL	85849431	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.460000	0.60108	2.199000	0.70637	0.533000	0.62120	TCT		0.358	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			C	85686876	T	C	85686876	3	2	160	1	0	0	0	0	1	0	0	0	13023	1783	62	4	368	4	RALYL	8	85686876	Missense_Mutation	SNP	T	TCGA-20-0990-01A-01W-0486-08		85686876	60677146	27	8932											
CPNE3	8895	broad.mit.edu	37	8	87560532	87560532	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr8:87560532G>A	ENST00000521271.1	+	12	1045	c.883G>A	c.(883-885)Gga>Aga	p.G295R	CPNE3_ENST00000198765.4_Missense_Mutation_p.G295R	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	295	VWFA.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.G295R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGGCAGGTGGGAGTGGACTT	0.488																																																1	Substitution - Missense(1)	ovary(1)	8											112	94	100					8																	87560532		2203	4300	6503	87629648	SO:0001583	missense	8895			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.883G>A	8.37:g.87560532G>A	ENSP00000430934:p.Gly295Arg		87629648	A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	CCDS6243.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.968486|4.968486	0.92855|0.92855	.|.	.|.	ENSG00000085719|ENSG00000085719	ENST00000198765;ENST00000521271|ENST00000517391	T;T|.	0.22134|.	1.97;1.97|.	5.71|5.71	4.83|4.83	0.62350|0.62350	von Willebrand factor, type A (1);|.	0.107041|.	0.64402|.	N|.	0.000007|.	D|.	0.87541|.	0.6203|.	H|H	0.96175|0.96175	3.78|3.78	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.68765|.	0.96|.	D|.	0.91753|.	0.5414|.	10|.	0.87932|.	D|.	0|.	-10.6619|-10.6619	16.0874|16.0874	0.81068|0.81068	0.0:0.0:0.865:0.135|0.0:0.0:0.865:0.135	.|.	295|.	O75131|.	CPNE3_HUMAN|.	R|X	295|183	ENSP00000198765:G295R;ENSP00000430934:G295R|.	ENSP00000198765:G295R|.	G|W	+|+	1|3	0|0	CPNE3|CPNE3	87629648|87629648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	9.826000|9.826000	0.99387|0.99387	1.407000|1.407000	0.46875|0.46875	-0.182000|-0.182000	0.12963|0.12963	GGA|TGG		0.488	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			A	87560532	G	A	87560532	3	1	160	1	0	0	0	0	1	0	0	0	3813	1233	43	2	921	2	CPNE3	8	87560532	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	1873656	87560532	58803490	28	8933											
DOCK8	81704	broad.mit.edu	37	9	463545	463545	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr9:463545C>T	ENST00000453981.1	+	47	6209	c.6097C>T	c.(6097-6099)Cgt>Tgt	p.R2033C	RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1933C|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000608617.1_RNA|DOCK8_ENST00000432829.2_Missense_Mutation_p.R1965C|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.R1500C|RP11-165F24.3_ENST00000593137.1_RNA			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2033	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1965C(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAAAACAAGCGTCTCATCAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	9											68	68	68					9																	463545		2203	4300	6503	453545	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.6097C>T	9.37:g.463545C>T	ENSP00000408464:p.Arg2033Cys		453545	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813346	0.70912	.	.	ENSG00000107099	ENST00000453981;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.04	4.13	0.48395	.	0.284900	0.38720	N	0.001596	T	0.26521	0.0648	L	0.41492	1.28	0.47037	D	0.999298	D;D;D	0.61697	0.981;0.981;0.99	P;P;P	0.56788	0.806;0.806;0.806	T	0.01604	-1.1314	10	0.66056	D	0.02	.	12.7763	0.57451	0.2964:0.7036:0.0:0.0	.	1933;1500;2033	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	C	2033;1965;1933;1500	ENSP00000408464:R2033C;ENSP00000394888:R1965C;ENSP00000419438:R1933C;ENSP00000371766:R1500C	ENSP00000371766:R1500C	R	+	1	0	DOCK8	453545	0.997000	0.39634	1.000000	0.80357	0.960000	0.62799	1.230000	0.32612	1.231000	0.43661	0.563000	0.77884	CGT		0.398	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		T	463545	C	T	463545	3	4	160	1	0	0	0	0	1	0	0	0	4693	768	27	1	6283	1	DOCK8	9	463545	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08		463545	140749886	29	8934											
LINGO2	158038	broad.mit.edu	37	9	27950233	27950233	+	Missense_Mutation	SNP	T	T	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr9:27950233T>C	ENST00000379992.2	-	6	886	c.437A>G	c.(436-438)gAc>gGc	p.D146G	LINGO2_ENST00000308675.3_Missense_Mutation_p.D146G	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	146						integral component of membrane (GO:0016021)		p.D146G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAACATGTAGTCTAGTAAAAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	9											78	72	74					9																	27950233		2203	4300	6503	27940233	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.437A>G	9.37:g.27950233T>C	ENSP00000369328:p.Asp146Gly		27940233	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306667	0.60305	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.79749	-1.3;-1.3	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	N	0.20986	0.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82313	-0.0519	9	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	146	Q7L985	LIGO2_HUMAN	G	146	ENSP00000369328:D146G;ENSP00000310126:D146G	.	D	-	2	0	LINGO2	27940233	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.003000	0.88520	2.371000	0.80710	0.533000	0.62120	GAC		0.418	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		C	27950233	T	C	27950233	3	2	160	1	0	0	0	0	1	0	0	0	8815	1667	58	4	1387	4	LINGO2	9	27950233	Missense_Mutation	SNP	T	TCGA-20-0990-01A-01W-0486-08	27486688	27950233	113263198	30	8935											
FANCG	2189	broad.mit.edu	37	9	35075483	35075483	+	Missense_Mutation	SNP	A	A	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr9:35075483A>T	ENST00000378643.3	-	10	1903	c.1412T>A	c.(1411-1413)gTg>gAg	p.V471E	FANCG_ENST00000476212.1_Intron|VCP_ENST00000358901.6_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	471					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.V471E(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACTAATTGCCACTTTTTGGGC	0.557			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	1	Substitution - Missense(1)	ovary(1)	9											111	130	123					9																	35075483		2203	4300	6503	35065483	SO:0001583	missense	2189			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1412T>A	9.37:g.35075483A>T	ENSP00000367910:p.Val471Glu		35065483		Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	A	0.075	-1.195470	0.01594	.	.	ENSG00000221829	ENST00000378643	T	0.11604	2.76	5.5	4.35	0.52113	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.01870	0.0059	N	0.00082	-2.215	0.27561	N	0.950189	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	9	0.02654	T	1	-3.9777	9.373	0.38266	0.1665:0.0:0.0:0.8335	.	471	O15287	FANCG_HUMAN	E	471	ENSP00000367910:V471E	ENSP00000367910:V471E	V	-	2	0	FANCG	35065483	0.966000	0.33281	0.972000	0.41901	0.425000	0.31504	3.878000	0.56130	0.907000	0.36646	-0.339000	0.08088	GTG		0.557	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		T	35075483	A	T	35075483	3	4	160	1	0	0	0	0	1	0	0	0	5668	159	6	5	476	5	FANCG	9	35075483	Missense_Mutation	SNP	A	TCGA-20-0990-01A-01W-0486-08	7125250	35075483	106137948	31	8936											
CTSL1	1514	broad.mit.edu	37	9	90342624	90342624	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr9:90342624C>T	ENST00000343150.5	+	2	996	c.106C>T	c.(106-108)Cac>Tac	p.H36Y	CTSL_ENST00000342020.5_Missense_Mutation_p.H36Y|CTSL_ENST00000340342.6_Missense_Mutation_p.H36Y|CTSL_ENST00000495822.1_Intron			P07711	CATL1_HUMAN	cathepsin L	36					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.H36Y(1)									GAAGGCGATGCACAACAGATT	0.463																																																1	Substitution - Missense(1)	ovary(1)	9											97	87	90					9																	90342624		2203	4300	6503	89532444	SO:0001583	missense	1514			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.106C>T	9.37:g.90342624C>T	ENSP00000345344:p.His36Tyr		89532444	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	C	7.552	0.662933	0.14710	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020;ENST00000539280	T;T;T	0.80033	-1.33;-1.33;-1.33	4.08	1.11	0.20524	Proteinase inhibitor I29, cathepsin propeptide (2);	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	L	0.61036	1.89	0.30020	N	0.814398	B	0.12630	0.006	B	0.17433	0.018	T	0.64816	-0.6318	10	0.36615	T	0.2	.	8.4148	0.32666	0.0:0.7255:0.0:0.2745	.	36	P07711	CATL1_HUMAN	Y	36	ENSP00000345344:H36Y;ENSP00000365061:H36Y;ENSP00000340470:H36Y	ENSP00000365061:H36Y	H	+	1	0	CTSL1	89532444	0.932000	0.31603	0.000000	0.03702	0.012000	0.07955	2.800000	0.47900	0.035000	0.15519	0.484000	0.47621	CAC		0.463	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		T	90342624	C	T	90342624	3	4	160	1	0	0	0	0	1	0	0	0	4038	710	25	2	108	2	CTSL1	9	90342624	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	55267141	90342624	50870807	32	8937											
ITIH2	3698	broad.mit.edu	37	10	7751080	7751080	+	Missense_Mutation	SNP	C	C	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr10:7751080C>A	ENST00000358415.4	+	4	454	c.288C>A	c.(286-288)aaC>aaA	p.N96K	ITIH2_ENST00000379587.4_Missense_Mutation_p.N85K|ITIH2_ENST00000480387.1_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	96	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.N96K(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGTGGTGAACAATTCCCCGC	0.443																																																1	Substitution - Missense(1)	ovary(1)	10											149	141	144					10																	7751080		2203	4300	6503	7791086	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.288C>A	10.37:g.7751080C>A	ENSP00000351190:p.Asn96Lys		7791086	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549660	0.65311	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.56941	0.43;0.43;0.43	5.79	4.79	0.61399	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	M	0.93150	3.385	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.82890	-0.0233	10	0.87932	D	0	-36.8223	12.6707	0.56866	0.0:0.8582:0.0:0.1418	.	96	P19823	ITIH2_HUMAN	K	96;71;85	ENSP00000351190:N96K;ENSP00000388826:N71K;ENSP00000368906:N85K	ENSP00000351190:N96K	N	+	3	2	ITIH2	7791086	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	1.450000	0.35134	2.738000	0.93877	0.585000	0.79938	AAC		0.443	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		A	7751080	C	A	7751080	3	1	160	1	0	0	0	0	1	0	0	0	7904	477	17	3	302	3	ITIH2	10	7751080	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08		7751080	127783667	33	8938											
CTNNA3	29119	broad.mit.edu	37	10	68940233	68940233	+	Nonsense_Mutation	SNP	G	G	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr10:68940233G>A	ENST00000433211.2	-	7	1063	c.889C>T	c.(889-891)Cga>Tga	p.R297*	CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R297*|CTNNA3_ENST00000545309.1_Nonsense_Mutation_p.R297*	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.R297*(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGTGATGGTCGTATTTCCTCC	0.448																																																3	Substitution - Nonsense(3)	large_intestine(2)|ovary(1)	10											143	130	134					10																	68940233		2203	4300	6503	68610239	SO:0001587	stop_gained	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.889C>T	10.37:g.68940233G>A	ENSP00000389714:p.Arg297*		68610239		Nonsense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	39	7.874806	0.98537	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	.	.	.	5.83	1.89	0.25635	.	0.107942	0.39985	N	0.001208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0289	14.0978	0.65034	0.0:0.0:0.3637:0.6363	.	.	.	.	X	297	.	ENSP00000362849:R297X	R	-	1	2	CTNNA3	68610239	0.984000	0.35163	0.997000	0.53966	0.990000	0.78478	1.218000	0.32467	0.456000	0.26937	-0.347000	0.07816	CGA		0.448	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		A	68940233	G	A	68940233	4	1	160	1	0	0	0	0	0	1	0	0	4014	1153	40	1	1846	1	CTNNA3	10	68940233	Nonsense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	61189153	68940233	66594514	34	8939											
KIF20B	9585	broad.mit.edu	37	10	91479226	91479226	+	Silent	SNP	T	T	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr10:91479226T>C	ENST00000371728.3	+	13	1550	c.1485T>C	c.(1483-1485)ccT>ccC	p.P495P	KIF20B_ENST00000260753.4_Silent_p.P495P|KIF20B_ENST00000416354.1_Silent_p.P495P|KIF20B_ENST00000394289.2_Silent_p.P495P	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	495					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.P495P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TATTTGGACCTGTCAAATCTT	0.313																																																1	Substitution - coding silent(1)	ovary(1)	10											38	42	41					10																	91479226		2193	4297	6490	91469206	SO:0001819	synonymous_variant	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1485T>C	10.37:g.91479226T>C			91469206	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37																																																																																					0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		C	91479226	T	C	91479226	2	2	160	1	0	0	0	0	0	0	0	1	8287	1567	55	4		4	KIF20B	10	91479226	Silent	SNP	T	TCGA-20-0990-01A-01W-0486-08	22538993	91479226	44055521	35	8940											
ARHGAP19	84986	broad.mit.edu	37	10	99052333	99052333	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr10:99052333G>A	ENST00000358531.4	-	1	80	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R18W|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R18W|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.R18W	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	18					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.R18W(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GCTCACCTCCGGCCGGATTCG	0.642																																																1	Substitution - Missense(1)	ovary(1)	10											135	105	115					10																	99052333		2203	4300	6503	99042323	SO:0001583	missense	84986			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.52C>T	10.37:g.99052333G>A	ENSP00000351333:p.Arg18Trp		99042323	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966106	0.18659	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000358531;ENST00000358308	T;T;T;T	0.11604	2.92;2.96;2.95;2.76	4.22	2.31	0.28768	.	1.110750	0.07259	U	0.867083	T	0.11367	0.0277	N	0.14661	0.345	0.27819	N	0.941878	D;B	0.71674	0.998;0.001	P;B	0.50754	0.649;0.001	T	0.36939	-0.9727	10	0.54805	T	0.06	.	9.3654	0.38221	0.0:0.0:0.611:0.389	.	18;18	Q14CB8-6;Q14CB8	.;RHG19_HUMAN	W	18	ENSP00000414774:R18W;ENSP00000324468:R18W;ENSP00000351333:R18W;ENSP00000351058:R18W	ENSP00000324468:R18W	R	-	1	2	ARHGAP19	99042323	0.994000	0.37717	0.731000	0.30826	0.024000	0.10985	3.721000	0.54941	0.704000	0.31869	-0.320000	0.08662	CGG		0.642	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		A	99052333	G	A	99052333	3	1	160	1	0	0	0	0	1	0	0	0	869	1115	39	1	1480	1	ARHGAP19	10	99052333	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	7573107	99052333	36482414	36	8941											
CARS	833	broad.mit.edu	37	11	3028132	3028132	+	Missense_Mutation	SNP	C	C	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr11:3028132C>A	ENST00000397111.5	-	18	2122	c.1877G>T	c.(1876-1878)gGg>gTg	p.G626V	CARS_ENST00000401769.3_Missense_Mutation_p.G639V|CARS_ENST00000380525.4_Missense_Mutation_p.G709V|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397114.3_Missense_Mutation_p.G616V|CARS_ENST00000278224.9_Missense_Mutation_p.G626V			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	626					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.G626V(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	AAACCGCACCCCAAGCTCGGG	0.587			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	1	Substitution - Missense(1)	ovary(1)	11											182	174	176					11																	3028132		2202	4298	6500	2984708	SO:0001583	missense	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1877G>T	11.37:g.3028132C>A	ENSP00000380300:p.Gly626Val		2984708	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138178	0.77775	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	4.42	4.42	0.53409	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	D	0.92198	0.7526	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.996;0.964;0.992;1.0;0.964	D;D;P;D;D;P	0.91635	0.991;0.924;0.808;0.944;0.999;0.808	D	0.94346	0.7575	10	0.87932	D	0	-44.8475	15.3614	0.74478	0.0:1.0:0.0:0.0	.	639;709;626;626;709;616	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	V	709;626;626;616;639	ENSP00000369897:G709V;ENSP00000380300:G626V;ENSP00000278224:G626V;ENSP00000380303:G616V;ENSP00000384069:G639V	ENSP00000278224:G626V	G	-	2	0	CARS	2984708	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.621000	0.74228	2.280000	0.76307	0.462000	0.41574	GGG		0.587	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		A	3028132	C	A	3028132	3	1	160	1	0	0	0	0	1	0	0	0	2657	623	22	3	397	3	CARS	11	3028132	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08		3028132	131978384	37	8942											
C11orf41	25758	broad.mit.edu	37	11	33564032	33564032	+	Missense_Mutation	SNP	A	A	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr11:33564032A>T	ENST00000321505.4	+	1	212	c.32A>T	c.(31-33)gAt>gTt	p.D11V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D11V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D11V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	11						integral component of membrane (GO:0016021)		p.D11V(1)									AATGCCCAGGATCTCATAGGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											78	78	78					11																	33564032		1988	4145	6133	33520608	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.32A>T	11.37:g.33564032A>T	ENSP00000315295:p.Asp11Val		33520608	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	A	6.025	0.372931	0.11409	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	4.84	0.949	0.19566	.	.	.	.	.	T	0.24236	0.0587	N	0.24115	0.695	0.09310	N	1	B;P	0.39782	0.267;0.688	B;B	0.40534	0.079;0.332	T	0.13282	-1.0515	8	0.72032	D	0.01	.	5.8387	0.18621	0.3602:0.4653:0.1745:0.0	.	11;11	E9PAT2;Q6ZVL6-2	.;.	V	11	.	ENSP00000265654:D11V	D	+	2	0	C11orf41	33520608	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	0.302000	0.19192	-0.091000	0.12440	0.459000	0.35465	GAT		0.493	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		T	33564032	A	T	33564032	3	4	160	1	0	0	0	0	1	0	0	0	1640	333	12	5	34	5	C11orf41	11	33564032	Missense_Mutation	SNP	A	TCGA-20-0990-01A-01W-0486-08	30535900	33564032	101442484	38	8943											
OR4X1	390113	broad.mit.edu	37	11	48285590	48285590	+	Missense_Mutation	SNP	T	T	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr11:48285590T>G	ENST00000320048.1	+	1	178	c.178T>G	c.(178-180)Ttt>Gtt	p.F60V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F60V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CATGTATTTCTTTCTCAGCTA	0.468																																																1	Substitution - Missense(1)	ovary(1)	11											149	136	140					11																	48285590		2201	4298	6499	48242166	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.178T>G	11.37:g.48285590T>G	ENSP00000321506:p.Phe60Val		48242166	Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968866	0.53614	.	.	ENSG00000176567	ENST00000320048	T	0.14391	2.51	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45418	0.1341	H	0.98027	4.13	0.25879	N	0.983613	D	0.56968	0.978	P	0.54499	0.754	T	0.56007	-0.8050	9	0.72032	D	0.01	.	11.6949	0.51538	0.0:0.0:0.0:1.0	.	60	Q8NH49	OR4X1_HUMAN	V	60	ENSP00000321506:F60V	ENSP00000321506:F60V	F	+	1	0	OR4X1	48242166	0.857000	0.29778	1.000000	0.80357	0.670000	0.39368	1.186000	0.32078	1.914000	0.55421	0.460000	0.39030	TTT		0.468	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		G	48285590	T	G	48285590	3	3	160	1	0	0	0	0	1	0	0	0	11084	1609	56	5	180	5	OR4X1	11	48285590	Missense_Mutation	SNP	T	TCGA-20-0990-01A-01W-0486-08	14721558	48285590	86720926	39	8944											
MMP13	4322	broad.mit.edu	37	11	102826347	102826347	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr11:102826347C>T	ENST00000260302.3	-	1	116	c.88G>A	c.(88-90)Gat>Aat	p.D30N	MMP13_ENST00000340273.4_Missense_Mutation_p.D30N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	30					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D30N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TCAGACAAATCATCTTCATCA	0.502																																																1	Substitution - Missense(1)	ovary(1)	11											111	100	104					11																	102826347		2202	4299	6501	102331557	SO:0001583	missense	4322			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.88G>A	11.37:g.102826347C>T	ENSP00000260302:p.Asp30Asn		102331557	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.442901	0.25987	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.38240	1.15;1.15	5.62	4.69	0.59074	Metallopeptidase, catalytic domain (1);	0.422167	0.28742	N	0.014293	T	0.19046	0.0457	N	0.08118	0	0.23882	N	0.996572	P	0.35656	0.514	B	0.28916	0.096	T	0.09952	-1.0651	10	0.42905	T	0.14	.	14.0175	0.64533	0.0:0.9243:0.0:0.0757	.	30	P45452	MMP13_HUMAN	N	30	ENSP00000260302:D30N;ENSP00000339672:D30N	ENSP00000260302:D30N	D	-	1	0	MMP13	102331557	0.667000	0.27484	0.034000	0.17996	0.108000	0.19459	2.001000	0.40825	1.440000	0.47531	0.655000	0.94253	GAT		0.502	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		T	102826347	C	T	102826347	3	4	160	1	0	0	0	0	1	0	0	0	9652	826	29	2	1367	2	MMP13	11	102826347	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	54540757	102826347	32180169	40	8945											
TECTA	7007	broad.mit.edu	37	11	121028627	121028627	+	Silent	SNP	G	G	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr11:121028627G>A	ENST00000392793.1	+	14	4654	c.4383G>A	c.(4381-4383)ccG>ccA	p.P1461P	TECTA_ENST00000264037.2_Silent_p.P1461P			O75443	TECTA_HUMAN	tectorin alpha	1461					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.P1461P(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGTGCGACCCGCGCCAATGCA	0.652																																																1	Substitution - coding silent(1)	ovary(1)	11											42	42	42					11																	121028627		2203	4299	6502	120533837	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4383G>A	11.37:g.121028627G>A			120533837		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.652	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	121028627	G	A	121028627	2	1	160	1	0	0	0	0	0	0	0	1	15747	1074	38	1		1	TECTA	11	121028627	Silent	SNP	G	TCGA-20-0990-01A-01W-0486-08	18202280	121028627	13977889	41	8946											
ARHGAP32	9743	broad.mit.edu	37	11	128993408	128993408	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr11:128993408C>G	ENST00000310343.9	-	4	334	c.335G>C	c.(334-336)gGt>gCt	p.G112A	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38A	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	112					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.G112A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGGAAAGTGACCTTTAGTGAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	11											96	86	89					11																	128993408		1566	3579	5145	128498618	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.335G>C	11.37:g.128993408C>G	ENSP00000310561:p.Gly112Ala		128498618	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244313	0.79912	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.75821	-0.97;-0.97;-0.97	5.55	5.55	0.83447	.	.	.	.	.	D	0.82820	0.5120	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69307	0.933;0.963	T	0.82612	-0.0371	9	0.49607	T	0.09	.	18.0611	0.89378	0.0:1.0:0.0:0.0	.	46;112	Q86T64;A7KAX9	.;RHG32_HUMAN	A	112;38;46;86	ENSP00000310561:G112A;ENSP00000432468:G38A;ENSP00000432303:G86A	ENSP00000310561:G112A	G	-	2	0	ARHGAP32	128498618	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.770000	0.74990	2.597000	0.87782	0.655000	0.94253	GGT		0.333	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		G	128993408	C	G	128993408	3	3	160	1	0	0	0	0	1	0	0	0	881	507	18	3	6004	3	ARHGAP32	11	128993408	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	7964781	128993408	6013108	42	8947											
SLCO1B3	28234	broad.mit.edu	37	12	21054396	21054396	+	Silent	SNP	T	T	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr12:21054396T>C	ENST00000381545.3	+	15	2079	c.1860T>C	c.(1858-1860)ttT>ttC	p.F620F	SLCO1B3_ENST00000553473.1_Silent_p.F620F|LST3_ENST00000540229.1_Silent_p.F620F|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.F620F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	620					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.F620F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ATTCCGTATTTTTTGGGTAAG	0.333																																																1	Substitution - coding silent(1)	ovary(1)	12											145	141	142					12																	21054396		2203	4300	6503	20945663	SO:0001819	synonymous_variant	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1860T>C	12.37:g.21054396T>C			20945663	E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	CCDS8684.1																																																																																				0.333	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		C	21054396	T	C	21054396	2	2	160	1	0	0	0	0	0	0	0	1	14727	1838	64	4		4	SLCO1B3	12	21054396	Silent	SNP	T	TCGA-20-0990-01A-01W-0486-08		21054396	112797499	43	8948											
CCDC65	85478	broad.mit.edu	37	12	49315215	49315215	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr12:49315215C>G	ENST00000320516.4	+	8	1632	c.1444C>G	c.(1444-1446)Cca>Gca	p.P482A	CCDC65_ENST00000266984.5_Intron|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	482								p.P482A(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TAAACAACATCCAACCACTTA	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											79	75	76					12																	49315215		2203	4300	6503	47601482	SO:0001583	missense	85478				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1444C>G	12.37:g.49315215C>G	ENSP00000312706:p.Pro482Ala		47601482	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781909	0.31502	.	.	ENSG00000139537	ENST00000320516	T	0.30714	1.52	5.27	1.11	0.20524	.	0.336398	0.25958	N	0.027201	T	0.19327	0.0464	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.13710	-1.0499	9	.	.	.	.	3.458	0.07523	0.1228:0.4883:0.2403:0.1487	.	482	Q8IXS2	CCD65_HUMAN	A	482	ENSP00000312706:P482A	.	P	+	1	0	CCDC65	47601482	0.001000	0.12720	0.021000	0.16686	0.307000	0.27823	0.968000	0.29357	0.301000	0.22738	0.591000	0.81541	CCA		0.383	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		G	49315215	C	G	49315215	3	3	160	1	0	0	0	0	1	0	0	0	2837	855	30	3	1474	3	CCDC65	12	49315215	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	28260819	49315215	84536680	44	8949											
SRGAP1	57522	broad.mit.edu	37	12	64521913	64521913	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr12:64521913C>G	ENST00000355086.3	+	21	3337	c.2813C>G	c.(2812-2814)tCc>tGc	p.S938C	SRGAP1_ENST00000357825.3_Missense_Mutation_p.S915C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.S875C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	938					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.S938C(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTAGAAGGTCCACGTCATCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											53	49	50					12																	64521913		2203	4300	6503	62808180	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2813C>G	12.37:g.64521913C>G	ENSP00000347198:p.Ser938Cys		62808180	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687618	0.88639	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.21361	3.01;2.6;2.01	5.65	5.65	0.86999	.	0.000000	0.34986	U	0.003527	T	0.43255	0.1239	L	0.58101	1.795	0.80722	D	1	D;D	0.67145	0.996;0.995	P;D	0.63703	0.885;0.917	T	0.03296	-1.1051	9	.	.	.	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	938;875	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	C	938;915;875	ENSP00000347198:S938C;ENSP00000350480:S915C;ENSP00000437948:S875C	.	S	+	2	0	SRGAP1	62808180	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	7.695000	0.84257	2.827000	0.97445	0.650000	0.86243	TCC		0.532	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			G	64521913	C	G	64521913	3	3	160	1	0	0	0	0	1	0	0	0	15147	855	30	3	2895	3	SRGAP1	12	64521913	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	15206698	64521913	69329982	45	8950											
BTBD11	121551	broad.mit.edu	37	12	108012027	108012027	+	Missense_Mutation	SNP	C	C	T	rs371455377		TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr12:108012027C>T	ENST00000280758.5	+	10	2852	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.A312V|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Missense_Mutation_p.A775V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	775						integral component of membrane (GO:0016021)		p.A775V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACTGACCTGGCGGAGACAGCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	12						C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	53	53	53		935,2324	4.9	1	12		53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BTBD11	NM_001017523.1,NM_001018072.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	312/642,775/1105	108012027	1,13005	2203	4300	6503	106536157	SO:0001583	missense	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2324C>T	12.37:g.108012027C>T	ENSP00000280758:p.Ala775Val		106536157	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614431	0.46631	0.0	1.16E-4	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.41400	1.22;1.26;1.0	4.88	4.88	0.63580	.	0.286415	0.39146	N	0.001441	T	0.23210	0.0561	N	0.08118	0	0.80722	D	1	B;B;P	0.34662	0.178;0.152;0.462	B;B;B	0.24006	0.05;0.016;0.031	T	0.07635	-1.0762	10	0.28530	T	0.3	.	18.4067	0.90539	0.0:1.0:0.0:0.0	.	312;775;775	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	V	775;775;312	ENSP00000280758:A775V;ENSP00000447319:A775V;ENSP00000349690:A312V	ENSP00000280758:A775V	A	+	2	0	BTBD11	106536157	0.614000	0.27017	0.994000	0.49952	0.944000	0.59088	1.034000	0.30204	2.406000	0.81754	0.563000	0.77884	GCG		0.612	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		T	108012027	C	T	108012027	3	4	160	1	0	0	0	0	1	0	0	0	1539	768	27	1	2467	1	BTBD11	12	108012027	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	43490114	108012027	25839868	46	8951											
COQ5	84274	broad.mit.edu	37	12	120941829	120941829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr12:120941829C>A	ENST00000288532.6	-	6	866	c.826G>T	c.(826-828)Gga>Tga	p.G276*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.G202*|Y_RNA_ENST00000410669.1_RNA	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	276					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.G276*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCAGTCTCCAGCGATGACC	0.433																																																1	Substitution - Nonsense(1)	ovary(1)	12											117	121	120					12																	120941829		2203	4300	6503	119426212	SO:0001587	stop_gained	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.826G>T	12.37:g.120941829C>A	ENSP00000288532:p.Gly276*		119426212	B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Nonsense_Mutation	SNP	ENST00000288532.6	37	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211872	0.95069	.	.	ENSG00000110871	ENST00000288532;ENST00000445328;ENST00000552443	.	.	.	5.77	4.89	0.63831	.	0.141691	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.8776	0.70507	0.0:0.9314:0.0:0.0686	.	.	.	.	X	276;202;195	.	ENSP00000288532:G276X	G	-	1	0	COQ5	119426212	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.941000	0.63540	1.456000	0.47831	0.650000	0.86243	GGA		0.433	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		A	120941829	C	A	120941829	4	1	160	1	0	0	0	0	0	1	0	0	3748	603	21	3	165	3	COQ5	12	120941829	Nonsense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	12929802	120941829	12910066	47	8952											
TMEM132B	114795	broad.mit.edu	37	12	126135286	126135286	+	Silent	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr12:126135286C>T	ENST00000299308.3	+	7	1694	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S	TMEM132B_ENST00000535886.1_Silent_p.S74S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	562						integral component of membrane (GO:0016021)		p.S562S(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGGCTGCTCCCTGCAGTACC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	12											82	92	89					12																	126135286		2187	4291	6478	124701239	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1686C>T	12.37:g.126135286C>T			124701239	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.572	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126135286	C	T	126135286	2	4	160	1	0	0	0	0	0	0	0	1	16046	610	22	2		2	TMEM132B	12	126135286	Silent	SNP	C	TCGA-20-0990-01A-01W-0486-08	5193457	126135286	7716609	48	8953											
N4BP2L1	90634	broad.mit.edu	37	13	32978397	32978397	+	Intron	SNP	G	G	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr13:32978397G>A	ENST00000380133.2	-	4	524				N4BP2L1_ENST00000380139.4_Silent_p.T136T|N4BP2L1_ENST00000530622.2_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000459716.1_Intron			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1									p.T136T(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TCTTTTGTTCGGTCTGAAATA	0.363																																																1	Substitution - coding silent(1)	ovary(1)	13											90	86	88					13																	32978397		2203	4300	6503	31876397	SO:0001627	intron_variant	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.473+60C>T	13.37:g.32978397G>A			31876397	A4QN21|Q5TBK0	Silent	SNP	ENST00000380133.2	37	CCDS9345.2																																																																																				0.363	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818		A	32978397	G	A	32978397	1	1	160	0	1	0	0	0	0	0	0	0	10111	1103	39	1		1	N4BP2L1	13	32978397	Intron	SNP	G	TCGA-20-0990-01A-01W-0486-08		32978397	82191481	49	8954											
FREM2	341640	broad.mit.edu	37	13	39453024	39453024	+	Silent	SNP	C	C	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr13:39453024C>A	ENST00000280481.7	+	23	9132	c.8916C>A	c.(8914-8916)gcC>gcA	p.A2972A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2972					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2972A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TATTTAATGCCAAACTAGCAG	0.443																																																1	Substitution - coding silent(1)	ovary(1)	13											190	170	177					13																	39453024		2203	4300	6503	38351024	SO:0001819	synonymous_variant	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8916C>A	13.37:g.39453024C>A			38351024	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39453024	C	A	39453024	2	1	160	1	0	0	0	0	0	0	0	1	6045	581	21	3		3	FREM2	13	39453024	Silent	SNP	C	TCGA-20-0990-01A-01W-0486-08	6474627	39453024	75716854	50	8955											
RNASE9	390443	broad.mit.edu	37	14	21024769	21024769	+	Missense_Mutation	SNP	T	T	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr14:21024769T>G	ENST00000557068.1	-	4	2185	c.460A>C	c.(460-462)Aaa>Caa	p.K154Q	RNASE9_ENST00000338904.3_Missense_Mutation_p.K154Q|RNASE9_ENST00000404716.3_Missense_Mutation_p.K159Q|RNASE9_ENST00000556208.1_Missense_Mutation_p.K159Q|RNASE9_ENST00000555230.1_Missense_Mutation_p.K154Q|RNASE9_ENST00000553541.1_Missense_Mutation_p.K154Q|RNASE9_ENST00000553706.1_Missense_Mutation_p.K159Q|RNASE9_ENST00000429244.2_Missense_Mutation_p.K154Q|RNASE9_ENST00000557209.1_Missense_Mutation_p.K159Q|RNASE9_ENST00000554964.1_Missense_Mutation_p.K154Q			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	154						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.K154Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GATTCGTATTTACACGCTGGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	14											102	87	92					14																	21024769		2203	4300	6503	20094609	SO:0001583	missense	390443			AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"Ribonucleases, RNase A"	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.460A>C	14.37:g.21024769T>G	ENSP00000451565:p.Lys154Gln		20094609	A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	ENST00000557068.1	37	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	T	2.922	-0.222878	0.06061	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	3.73	-7.47	0.01365	Ribonuclease A, domain (3);	.	.	.	.	T	0.41858	0.1177	N	0.16478	0.41	0.09310	N	1	B;B	0.18968	0.022;0.032	B;B	0.13407	0.009;0.008	T	0.24799	-1.0150	9	0.17832	T	0.49	-11.2161	2.5869	0.04832	0.1171:0.1503:0.2324:0.5001	.	154;159	P60153;P60153-2	RNAS9_HUMAN;.	Q	154;154;154;154;159;159;154;154;159;159	ENSP00000340162:K154Q;ENSP00000450599:K154Q;ENSP00000450800:K154Q;ENSP00000451565:K154Q;ENSP00000384683:K159Q;ENSP00000451160:K159Q;ENSP00000451285:K154Q;ENSP00000409504:K154Q;ENSP00000450570:K159Q;ENSP00000450987:K159Q	ENSP00000340162:K154Q	K	-	1	0	RNASE9	20094609	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.887000	0.00173	-1.920000	0.01069	-1.286000	0.01371	AAA		0.363	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673		G	21024769	T	G	21024769	3	3	160	1	0	0	0	0	1	0	0	0	13413	1763	61	5	161	5	RNASE9	14	21024769	Missense_Mutation	SNP	T	TCGA-20-0990-01A-01W-0486-08		21024769	86324771	51	8956											
SPG11	80208	broad.mit.edu	37	15	44921512	44921512	+	Missense_Mutation	SNP	T	T	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr15:44921512T>G	ENST00000261866.7	-	9	1826	c.1810A>C	c.(1810-1812)Aaa>Caa	p.K604Q	SPG11_ENST00000535302.2_Missense_Mutation_p.K604Q|SPG11_ENST00000558319.1_Missense_Mutation_p.K604Q|SPG11_ENST00000427534.2_Missense_Mutation_p.K604Q|SPG11_ENST00000559193.1_Missense_Mutation_p.K604Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	604					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.K604Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAAAAGTGTTTGCTTTGGGGT	0.368																																																1	Substitution - Missense(1)	ovary(1)	15											143	129	134					15																	44921512		2198	4298	6496	42708804	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1810A>C	15.37:g.44921512T>G	ENSP00000261866:p.Lys604Gln		42708804	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112252	0.56398	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.81078	-1.45;-1.2;-1.19	5.7	5.7	0.88788	.	0.127798	0.52532	D	0.000075	D	0.83041	0.5168	L	0.54323	1.7	0.50467	D	0.999873	B;B;D;B	0.63046	0.441;0.441;0.992;0.441	B;B;P;B	0.53593	0.213;0.213;0.73;0.198	T	0.82727	-0.0314	10	0.39692	T	0.17	.	14.1877	0.65617	0.0:0.0:0.0:1.0	.	604;604;604;604	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	Q	604	ENSP00000261866:K604Q;ENSP00000445278:K604Q;ENSP00000396110:K604Q	ENSP00000261866:K604Q	K	-	1	0	SPG11	42708804	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.548000	0.60718	2.178000	0.69098	0.533000	0.62120	AAA		0.368	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			G	44921512	T	G	44921512	3	3	160	1	0	0	0	0	1	0	0	0	15043	1821	63	5	5649	5	SPG11	15	44921512	Missense_Mutation	SNP	T	TCGA-20-0990-01A-01W-0486-08		44921512	57609880	52	8957											
RORA	6095	broad.mit.edu	37	15	60919532	60919532	+	Intron	SNP	C	C	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr15:60919532C>A	ENST00000335670.6	-	2	297				RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000309157.4_Missense_Mutation_p.E14D|RORA_ENST00000261523.5_Missense_Mutation_p.E14D	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E14D(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCACTCTTGCCTCAGTCTCTA	0.552																																																1	Substitution - Missense(1)	ovary(1)	15											206	174	185					15																	60919532		2203	4300	6503	58706824	SO:0001627	intron_variant	6095			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.196+51323G>T	15.37:g.60919532C>A			58706824	P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836090	0.32421	.	.	ENSG00000069667	ENST00000309157;ENST00000261523	D;D	0.94931	-3.56;-3.46	3.22	2.28	0.28536	.	.	.	.	.	D	0.85474	0.5705	N	0.08118	0	0.51767	D	0.999933	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.78602	-0.2140	9	0.39692	T	0.17	.	8.6176	0.33842	0.0:0.7658:0.2342:0.0	.	14;14	P35398-3;P35398	.;RORA_HUMAN	D	14	ENSP00000309753:E14D;ENSP00000261523:E14D	ENSP00000261523:E14D	E	-	3	2	RORA	58706824	0.879000	0.30193	0.719000	0.30619	0.037000	0.13140	1.162000	0.31786	0.902000	0.36520	0.655000	0.94253	GAG		0.552	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			A	60919532	C	A	60919532	1	1	160	0	1	0	0	0	0	0	0	0	13531	680	24	3		3	RORA	15	60919532	Intron	SNP	C	TCGA-20-0990-01A-01W-0486-08	15998020	60919532	41611860	53	8958											
CDK10	8558	broad.mit.edu	37	16	89758909	89758909	+	Missense_Mutation	SNP	A	A	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr16:89758909A>G	ENST00000353379.7	+	6	513	c.470A>G	c.(469-471)aAc>aGc	p.N157S	CDK10_ENST00000331006.8_Missense_Mutation_p.N110S|CDK10_ENST00000505473.1_Missense_Mutation_p.N86S	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.N157S(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CTGCACAGGAACTTCATTATC	0.567																																																1	Substitution - Missense(1)	ovary(1)	16											85	76	79					16																	89758909		2198	4300	6498	88286410	SO:0001583	missense	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.470A>G	16.37:g.89758909A>G	ENSP00000338673:p.Asn157Ser		88286410	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	A	13.66	2.303790	0.40795	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.66280	-0.2;-0.2;-0.2	4.51	3.38	0.38709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.237466	0.49916	N	0.000132	T	0.55561	0.1928	L	0.57536	1.79	0.43761	D	0.996272	B;B;B;B;B;B	0.25105	0.002;0.001;0.057;0.0;0.009;0.118	B;B;B;B;B;B	0.25987	0.035;0.014;0.057;0.014;0.015;0.065	T	0.54351	-0.8307	10	0.59425	D	0.04	-38.58	8.0779	0.30726	0.8278:0.0:0.1722:0.0	.	151;86;157;86;86;115	B7Z319;A8K370;Q15131;Q15131-3;Q15131-4;Q59EI2	.;.;CDK10_HUMAN;.;.;.	S	110;128;86;157	ENSP00000329957:N110S;ENSP00000424415:N86S;ENSP00000338673:N157S	ENSP00000329957:N110S	N	+	2	0	CDK10	88286410	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.799000	0.47892	0.717000	0.32145	0.402000	0.26972	AAC		0.567	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			G	89758909	A	G	89758909	3	3	160	1	0	0	0	0	1	0	0	0	3125	43	2	4	492	4	CDK10	16	89758909	Missense_Mutation	SNP	A	TCGA-20-0990-01A-01W-0486-08		89758909	595844	54	8959											
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr17:7578500G>A	ENST00000269305.4	-	5	619	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*	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	144	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(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)	ACCCACAGCTGCACAGGGCAG	0.597		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"	65	Substitution - Nonsense(40)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(2)	lung(11)|upper_aerodigestive_tract(10)|oesophagus(8)|breast(8)|endometrium(6)|ovary(5)|bone(4)|large_intestine(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|liver(1)|skin(1)|prostate(1)	17											57	56	57					17																	7578500		2203	4300	6503	7519225	SO:0001587	stop_gained	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.430C>T	17.37:g.7578500G>A	ENSP00000269305:p.Gln144*		7519225	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071217	0.55646	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.121732	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.9139	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	144;144;144;144;144;144;133;51;12;51;12;144	.	ENSP00000269305:Q144X	Q	-	1	0	TP53	7519225	1.000000	0.71417	0.908000	0.35775	0.017000	0.09413	7.953000	0.87836	2.733000	0.93635	0.655000	0.94253	CAG		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578500	G	A	7578500	4	1	160	1	0	0	0	0	0	1	0	0	16381	1328	46	2	868	2	TP53	17	7578500	Nonsense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08		7578500	73616710	55	8960											
KIAA1468	57614	broad.mit.edu	37	18	59894635	59894635	+	Silent	SNP	G	G	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr18:59894635G>T	ENST00000398130.2	+	6	1204	c.972G>T	c.(970-972)gtG>gtT	p.V324V	KIAA1468_ENST00000256858.6_Silent_p.V324V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	324								p.V324V(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGTAGATGTGGCCAGTGGAG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	18											116	114	115					18																	59894635		1932	4144	6076	58045615	SO:0001819	synonymous_variant	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.972G>T	18.37:g.59894635G>T			58045615		Silent	SNP	ENST00000398130.2	37	CCDS11979.2																																																																																				0.428	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		T	59894635	G	T	59894635	2	4	160	1	0	0	0	0	0	0	0	1	8236	1335	47	3		3	KIAA1468	18	59894635	Silent	SNP	G	TCGA-20-0990-01A-01W-0486-08		59894635	18182613	56	8961											
ZNF236	7776	broad.mit.edu	37	18	74563797	74563797	+	Missense_Mutation	SNP	A	A	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr18:74563797A>C	ENST00000253159.8	+	3	457	c.259A>C	c.(259-261)Acc>Ccc	p.T87P	ZNF236_ENST00000320610.9_Missense_Mutation_p.T89P|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	87					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T87P(1)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCATAAATGCACCCACAGCGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	18											108	107	108					18																	74563797		1895	4115	6010	72692785	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.259A>C	18.37:g.74563797A>C	ENSP00000253159:p.Thr87Pro		72692785	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245008	0.59103	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.32023	1.47;1.47	5.7	4.53	0.55603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	H	0.95043	3.615	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.963	T	0.73642	-0.3918	10	0.59425	D	0.04	.	12.0816	0.53673	0.8709:0.0:0.0:0.1291	.	87;87	Q9NWI2;Q9UL36	.;ZN236_HUMAN	P	87	ENSP00000253159:T87P;ENSP00000444524:T87P	ENSP00000253159:T87P	T	+	1	0	ZNF236	72692785	1.000000	0.71417	0.988000	0.46212	0.382000	0.30200	8.989000	0.93506	0.963000	0.38082	-0.480000	0.04831	ACC		0.443	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			C	74563797	A	C	74563797	3	2	160	1	0	0	0	0	1	0	0	0	17789	159	6	5	269	5	ZNF236	18	74563797	Missense_Mutation	SNP	A	TCGA-20-0990-01A-01W-0486-08	14669162	74563797	3513451	57	8962											
BST2	684	broad.mit.edu	37	19	17516280	17516280	+	Silent	SNP	C	C	G			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr19:17516280C>G	ENST00000252593.6	-	1	177	c.105G>C	c.(103-105)gtG>gtC	p.V35V	CTD-2521M24.9_ENST00000500836.2_lincRNA|BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	35					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.V35V(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						CCCCCAGAATCACGATGATCA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19											137	112	121					19																	17516280		2203	4300	6503	17377280	SO:0001819	synonymous_variant	684				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"CD molecules"	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.105G>C	19.37:g.17516280C>G			17377280	A8K4Y4|Q53G07	Silent	SNP	ENST00000252593.6	37	CCDS12358.1																																																																																				0.547	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	NM_004335		G	17516280	C	G	17516280	2	3	160	1	0	0	0	0	0	0	0	1	1534	813	29	3		3	BST2	19	17516280	Silent	SNP	C	TCGA-20-0990-01A-01W-0486-08		17516280	41612703	58	8963											
NCCRP1	342897	broad.mit.edu	37	19	39689812	39689812	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr19:39689812G>C	ENST00000339852.4	+	4	477	c.455G>C	c.(454-456)tGg>tCg	p.W152S		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	152	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.W152S(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TTTCACAGCTGGACAGTGAAG	0.597																																					Melanoma(107;1207 1556 14956 29427 52130)											1	Substitution - Missense(1)	ovary(1)	19											73	66	68					19																	39689812		2203	4300	6503	44381652	SO:0001583	missense	342897			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.455G>C	19.37:g.39689812G>C	ENSP00000342137:p.Trp152Ser		44381652	Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916812	0.73098	.	.	ENSG00000188505	ENST00000339852	T	0.34472	1.36	5.25	5.25	0.73442	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.59878	-0.7371	10	0.52906	T	0.07	-20.501	16.3339	0.83052	0.0:0.0:1.0:0.0	.	152	Q6ZVX7	NCRP1_HUMAN	S	152	ENSP00000342137:W152S	ENSP00000342137:W152S	W	+	2	0	NCCRP1	44381652	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.325000	0.65869	2.458000	0.83093	0.491000	0.48974	TGG		0.597	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		C	39689812	G	C	39689812	3	2	160	1	0	0	0	0	1	0	0	0	10213	1357	47	3	469	3	NCCRP1	19	39689812	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	22173532	39689812	19439171	59	8964											
CYP2A13	1553	broad.mit.edu	37	19	41594876	41594876	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr19:41594876C>T	ENST00000330436.3	+	2	223	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	75					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P75S(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TCACTTGGGGCCCCGGCGGGT	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											88	83	85					19																	41594876		2203	4300	6503	46286716	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.223C>T	19.37:g.41594876C>T	ENSP00000332679:p.Pro75Ser		46286716	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	2.903	-0.227046	0.06022	.	.	ENSG00000197838	ENST00000330436	T	0.67698	-0.28	3.49	-0.267	0.12938	.	0.880911	0.09886	U	0.743079	T	0.38558	0.1045	N	0.16790	0.44	0.09310	N	1	B	0.26258	0.145	B	0.27715	0.082	T	0.30060	-0.9991	10	0.02654	T	1	.	1.659	0.02787	0.1679:0.4741:0.1635:0.1945	.	75	Q16696	CP2AD_HUMAN	S	75	ENSP00000332679:P75S	ENSP00000332679:P75S	P	+	1	0	CYP2A13	46286716	0.000000	0.05858	0.050000	0.19076	0.202000	0.24057	-3.240000	0.00544	-0.040000	0.13580	-0.497000	0.04613	CCC		0.642	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		T	41594876	C	T	41594876	3	4	160	1	0	0	0	0	1	0	0	0	4161	739	26	2	229	2	CYP2A13	19	41594876	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	1905064	41594876	17534107	60	8965											
CDK5RAP1	51654	broad.mit.edu	37	20	31979987	31979987	+	Missense_Mutation	SNP	G	G	A	rs140768425		TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr20:31979987G>A	ENST00000357886.4	-	5	658	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169W|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169W|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R79W|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169W			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	169	MTTase N-terminal.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.R169W(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GAGCGGGGCCGCCTTGTCTTC	0.453																																																1	Substitution - Missense(1)	ovary(1)	20						G	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	83	86	85		235,505	4.2	0.9	20	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense	CDK5RAP1	NM_016082.3,NM_016408.2	101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	79/498,169/588	31979987	2,13004	2203	4300	6503	31443648	SO:0001583	missense	51654			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.505C>T	20.37:g.31979987G>A	ENSP00000350558:p.Arg169Trp		31443648	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37		.	.	.	.	.	.	.	.	.	.	G	24.8	4.568307	0.86439	4.54E-4	0.0	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	5.19	4.22	0.49857	Methylthiotransferase, N-terminal (2);	0.110167	0.64402	D	0.000013	D	0.85613	0.5737	H	0.94306	3.52	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;P	0.91635	0.959;0.999;0.973;0.973;0.973;0.954;0.888	D	0.89051	0.3455	9	0.87932	D	0	-18.9715	12.6714	0.56870	0.0:0.0:0.8337:0.1663	.	169;169;169;169;169;169;79	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	W	169;169;169;79;59;169	.	ENSP00000341840:R169W	R	-	1	2	CDK5RAP1	31443648	1.000000	0.71417	0.918000	0.36340	0.978000	0.69477	4.913000	0.63341	1.379000	0.46325	0.591000	0.81541	CGG		0.453	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		A	31979987	G	A	31979987	3	1	160	1	0	0	0	0	1	0	0	0	3145	1086	38	1	1298	1	CDK5RAP1	20	31979987	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08		31979987	31045533	61	8966											
LPIN3	64900	broad.mit.edu	37	20	39987135	39987135	+	Silent	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr20:39987135C>T	ENST00000373257.3	+	19	2455	c.2364C>T	c.(2362-2364)aaC>aaT	p.N788N	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	788	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.N788N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCACAGTCAACCCCCGGGGAG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	20											78	84	82					20																	39987135		2203	4300	6503	39420549	SO:0001819	synonymous_variant	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2364C>T	20.37:g.39987135C>T			39420549	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	CCDS33469.1																																																																																				0.607	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		T	39987135	C	T	39987135	2	4	160	1	0	0	0	0	0	0	0	1	8920	506	18	2		2	LPIN3	20	39987135	Silent	SNP	C	TCGA-20-0990-01A-01W-0486-08	8007148	39987135	23038385	62	8967											
SLC2A10	81031	broad.mit.edu	37	20	45354908	45354908	+	Silent	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr20:45354908C>T	ENST00000359271.2	+	2	1483	c.1233C>T	c.(1231-1233)acC>acT	p.T411T		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	411					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)	p.T411T(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGCGCTGGACCGCACTGCTGT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	20											40	38	39					20																	45354908		2203	4300	6503	44788315	SO:0001819	synonymous_variant	81031			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1233C>T	20.37:g.45354908C>T			44788315	A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	CCDS13402.1																																																																																				0.632	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			T	45354908	C	T	45354908	2	4	160	1	0	0	0	0	0	0	0	1	14542	639	23	1		1	SLC2A10	20	45354908	Silent	SNP	C	TCGA-20-0990-01A-01W-0486-08	5367773	45354908	17670612	63	8968											
KRTAP26-1	388818	broad.mit.edu	37	21	31691839	31691839	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chr21:31691839C>T	ENST00000360542.3	-	1	768	c.515G>A	c.(514-516)cGt>cAt	p.R172H		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	172						intermediate filament (GO:0005882)		p.R172H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						ACTTTGAGGACGATAGGCCAA	0.562																																																1	Substitution - Missense(1)	ovary(1)	21											192	193	193					21																	31691839		2203	4300	6503	30613710	SO:0001583	missense	388818			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.515G>A	21.37:g.31691839C>T	ENSP00000353742:p.Arg172His		30613710	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379383	0.42207	.	.	ENSG00000197683	ENST00000360542	T	0.16897	2.31	5.06	2.27	0.28462	.	1.468220	0.04336	N	0.353191	T	0.12092	0.0294	L	0.27053	0.805	0.09310	N	1	P	0.47350	0.894	B	0.39068	0.289	T	0.22487	-1.0215	10	0.24483	T	0.36	1.0E-4	6.4572	0.21936	0.0:0.7061:0.0:0.2939	.	172	Q6PEX3	KR261_HUMAN	H	172	ENSP00000353742:R172H	ENSP00000353742:R172H	R	-	2	0	KRTAP26-1	30613710	0.000000	0.05858	0.020000	0.16555	0.006000	0.05464	0.114000	0.15520	0.782000	0.33613	0.650000	0.86243	CGT		0.562	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		T	31691839	C	T	31691839	3	4	160	1	0	0	0	0	1	0	0	0	8543	536	19	1	121	1	KRTAP26-1	21	31691839	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08		31691839	16438056	64	8969											
MAGEB6	158809	broad.mit.edu	37	X	26212100	26212100	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chrX:26212100G>A	ENST00000379034.1	+	2	286	c.137G>A	c.(136-138)cGc>cAc	p.R46H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	46	Ser-rich.							p.R46H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCCTCTTCTCGCGCTTGTCTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											114	97	103					X																	26212100		2202	4300	6502	26122021	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.137G>A	X.37:g.26212100G>A	ENSP00000368320:p.Arg46His		26122021	Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	g	0.384	-0.927188	0.02377	.	.	ENSG00000176746	ENST00000379034	T	0.04234	3.67	1.67	-1.67	0.08238	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.01800	0.0057	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44726	-0.9309	9	0.41790	T	0.15	.	0.5815	0.00712	0.2414:0.3391:0.239:0.1805	.	46	Q8N7X4	MAGB6_HUMAN	H	46	ENSP00000368320:R46H	ENSP00000368320:R46H	R	+	2	0	MAGEB6	26122021	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-0.649000	0.05430	-2.046000	0.00415	CGC		0.552	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		A	26212100	G	A	26212100	3	1	160	1	0	0	0	0	1	0	0	0	9179	1087	38	1	139	1	MAGEB6	23	26212100	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08		26212100	129058460	65	8970											
GDPD2	54857	broad.mit.edu	37	X	69647002	69647002	+	Missense_Mutation	SNP	A	A	C			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chrX:69647002A>C	ENST00000374382.3	+	9	969	c.718A>C	c.(718-720)Acc>Ccc	p.T240P	GDPD2_ENST00000536730.1_Missense_Mutation_p.T161P|GDPD2_ENST00000453994.2_Missense_Mutation_p.T240P|GDPD2_ENST00000538649.1_Missense_Mutation_p.T161P|GDPD2_ENST00000472623.1_3'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	240	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.T240P(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TCCCGAGAACACCCTGATGTC	0.582																																																1	Substitution - Missense(1)	ovary(1)	X											94	79	84					X																	69647002		2203	4300	6503	69563727	SO:0001583	missense	54857			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.718A>C	X.37:g.69647002A>C	ENSP00000363503:p.Thr240Pro		69563727	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932826	0.73442	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.35	5.35	0.76521	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	H	0.98594	4.275	0.47009	D	0.999283	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.84171	0.0434	9	.	.	.	-18.2418	13.073	0.59072	1.0:0.0:0.0:0.0	.	240;26;161;240	B4DVC9;B3KUI6;B4DRH4;Q9HCC8	.;.;.;GDPD2_HUMAN	P	240;161;161;240	ENSP00000414019:T240P;ENSP00000445982:T161P;ENSP00000444601:T161P;ENSP00000363503:T240P	.	T	+	1	0	GDPD2	69563727	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.267000	0.89874	1.967000	0.57214	0.486000	0.48141	ACC		0.582	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		C	69647002	A	C	69647002	3	2	160	1	0	0	0	0	1	0	0	0	6324	159	6	5	748	5	GDPD2	23	69647002	Missense_Mutation	SNP	A	TCGA-20-0990-01A-01W-0486-08	43434902	69647002	85623558	66	8971											
CLDN2	9075	broad.mit.edu	37	X	106171625	106171625	+	Missense_Mutation	SNP	C	C	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chrX:106171625C>A	ENST00000541806.1	+	2	686	c.167C>A	c.(166-168)aCa>aAa	p.T56K	CLDN2_ENST00000540876.1_Missense_Mutation_p.T56K|CLDN2_ENST00000336803.1_Missense_Mutation_p.T56K	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	56					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.T56K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GAATGTGCCACACACAGCACA	0.567																																																1	Substitution - Missense(1)	ovary(1)	X											115	94	101					X																	106171625		2203	4300	6503	106058281	SO:0001583	missense	9075			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.167C>A	X.37:g.106171625C>A	ENSP00000441283:p.Thr56Lys		106058281	B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890862	0.52014	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.89123	-2.47;-2.47;-2.47	5.6	5.6	0.85130	Claudin, conserved site (1);	0.108239	0.64402	D	0.000006	D	0.90448	0.7009	M	0.63428	1.95	0.40844	D	0.983695	P	0.50369	0.934	P	0.51101	0.659	D	0.89377	0.3679	10	0.29301	T	0.29	.	15.8564	0.78979	0.0:1.0:0.0:0.0	.	56	P57739	CLD2_HUMAN	K	56	ENSP00000441283:T56K;ENSP00000443230:T56K;ENSP00000336571:T56K	ENSP00000336571:T56K	T	+	2	0	CLDN2	106058281	0.691000	0.27709	1.000000	0.80357	0.995000	0.86356	1.612000	0.36889	2.343000	0.79666	0.594000	0.82650	ACA		0.567	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			A	106171625	C	A	106171625	3	1	160	1	0	0	0	0	1	0	0	0	3481	478	17	3	169	3	CLDN2	23	106171625	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	36524623	106171625	49098935	67	8972											
STAG2	10735	broad.mit.edu	37	X	123179101	123179101	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chrX:123179101C>T	ENST00000371160.1	+	8	840	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	STAG2_ENST00000354548.5_Missense_Mutation_p.R115W|STAG2_ENST00000371144.3_Missense_Mutation_p.R184W|STAG2_ENST00000218089.9_Missense_Mutation_p.R184W|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.R184W|STAG2_ENST00000371145.3_Missense_Mutation_p.R184W	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	184					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R184W(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CGTGTTAGTACGGCAATGTCA	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											195	181	186					X																	123179101		2203	4300	6503	123006782	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.550C>T	X.37:g.123179101C>T	ENSP00000360202:p.Arg184Trp		123006782	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142053	0.77775	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000435215	T;T;T;T;T;T;T;T	0.44881	0.91;1.36;1.36;1.36;1.36;0.91;1.36;0.91	4.64	3.71	0.42584	STAG (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.65140	0.888;0.932	T	0.68819	-0.5308	10	0.72032	D	0.01	-1.6646	13.8263	0.63352	0.1528:0.8472:0.0:0.0	.	184;184	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	W	184;184;115;184;184;184;184;184	ENSP00000218089:R184W;ENSP00000397265:R184W;ENSP00000346555:R115W;ENSP00000360202:R184W;ENSP00000360199:R184W;ENSP00000360187:R184W;ENSP00000360186:R184W;ENSP00000392118:R184W	ENSP00000218089:R184W	R	+	1	2	STAG2	123006782	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.980000	0.56895	2.025000	0.59659	0.422000	0.28245	CGG		0.373	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123179101	C	T	123179101	3	4	160	1	0	0	0	0	1	0	0	0	15245	527	19	1	572	1	STAG2	23	123179101	Missense_Mutation	SNP	C	TCGA-20-0990-01A-01W-0486-08	17007476	123179101	32091459	68	8973											
UTP14A	10813	broad.mit.edu	37	X	129054485	129054485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chrX:129054485G>T	ENST00000394422.3	+	9	833	c.805G>T	c.(805-807)Gag>Tag	p.E269*	UTP14A_ENST00000371051.5_Nonsense_Mutation_p.E215*|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Nonsense_Mutation_p.E217*|UTP14A_ENST00000371042.3_Nonsense_Mutation_p.E101*	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	269					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E269*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAAGAGTTTGAGCAGCTGCG	0.478																																																1	Substitution - Nonsense(1)	ovary(1)	X											124	122	123					X																	129054485		2203	4300	6503	128882166	SO:0001587	stop_gained	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.805G>T	X.37:g.129054485G>T	ENSP00000377944:p.Glu269*		128882166	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Nonsense_Mutation	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246215	0.95272	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	.	.	.	6.17	6.17	0.99709	.	0.090541	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-31.1652	19.7362	0.96205	0.0:0.0:1.0:0.0	.	.	.	.	X	217;269;215;101;101	.	ENSP00000360081:E101X	E	+	1	0	UTP14A	128882166	1.000000	0.71417	0.792000	0.32020	0.123000	0.20343	9.438000	0.97539	2.618000	0.88619	0.600000	0.82982	GAG		0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		T	129054485	G	T	129054485	4	4	160	1	0	0	0	0	0	1	0	0	17095	1291	45	3	839	3	UTP14A	23	129054485	Nonsense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	5875384	129054485	26216075	69	8974											
L1CAM	3897	broad.mit.edu	37	X	153129914	153129914	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0990-01A-01W-0486-08	TCGA-20-0990-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4c50d48a-7b5d-41bd-a502-a70b53ab4767	b3ee80a8-f98d-4c24-8a5b-20c3e9a35c93	g.chrX:153129914G>A	ENST00000370060.1	-	25	3374	c.3185C>T	c.(3184-3186)tCc>tTc	p.S1062F	L1CAM_ENST00000361699.4_Missense_Mutation_p.S1062F|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1062F|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1064F|L1CAM_ENST00000361981.3_Missense_Mutation_p.S1057F|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1057F|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1064F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1062	Fibronectin type-III 5. {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.S1062F(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)					TGGCGAAAGGGAAGCCCCACC	0.607																																																1	Substitution - Missense(1)	ovary(1)	X											113	100	104					X																	153129914		2203	4300	6503	152783108	SO:0001583	missense	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.3185C>T	X.37:g.153129914G>A	ENSP00000359077:p.Ser1062Phe		152783108	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	0.712	-0.786784	0.02907	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-1.69;-2.02	4.49	-2.81	0.05805	Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.939600	0.01107	N	0.005480	T	0.69124	0.3076	N	0.08118	0	0.09310	N	1	B;B;B	0.22746	0.074;0.015;0.0	B;B;B	0.23574	0.047;0.004;0.002	T	0.57505	-0.7800	10	0.25106	T	0.35	.	4.55	0.12107	0.0:0.3025:0.324:0.3735	.	1057;1062;1062	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	F	1062;1064;1062;1064;1057;1057;7;1062	ENSP00000359077:S1062F;ENSP00000438430:S1064F;ENSP00000359074:S1062F;ENSP00000439645:S1064F;ENSP00000354712:S1057F;ENSP00000359072:S1057F;ENSP00000359075:S7F;ENSP00000355380:S1062F	ENSP00000355380:S1062F	S	-	2	0	L1CAM	152783108	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.343000	0.02642	-1.140000	0.02877	-0.740000	0.03531	TCC		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153129914	G	A	153129914	3	1	160	1	0	0	0	0	1	0	0	0	8588	1174	41	2	608	2	L1CAM	23	153129914	Missense_Mutation	SNP	G	TCGA-20-0990-01A-01W-0486-08	24075429	153129914	2140646	70	8975											
PANK4	55229	broad.mit.edu	37	1	2452247	2452247	+	Missense_Mutation	SNP	T	T	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr1:2452247T>G	ENST00000378466.3	-	4	533	c.521A>C	c.(520-522)gAc>gCc	p.D174A	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Missense_Mutation_p.D135A	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	174					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.D174A(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAACTCAGGGTCGGAATCCTT	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											131	133	132					1																	2452247		2203	4300	6503	2442107	SO:0001583	missense	55229			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.521A>C	1.37:g.2452247T>G	ENSP00000367727:p.Asp174Ala		2442107	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	CCDS42.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463955	0.43736	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99594	-6.25;-6.25	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	L	0.55017	1.72	0.80722	D	1	B;B	0.22080	0.064;0.019	B;B	0.27170	0.077;0.077	D	0.99859	1.1081	10	0.46703	T	0.11	-29.4076	13.719	0.62714	0.0:0.0:0.0:1.0	.	135;174	E9PHT6;Q9NVE7	.;PANK4_HUMAN	A	174;135	ENSP00000367727:D174A;ENSP00000421433:D135A	ENSP00000367727:D174A	D	-	2	0	PANK4	2442107	1.000000	0.71417	0.733000	0.30861	0.826000	0.46750	7.332000	0.79203	1.835000	0.53391	0.460000	0.39030	GAC		0.537	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			G	2452247	T	G	2452247	3	3	161	1	0	0	0	0	1	0	0	0	11419	1667	58	5	1864	5	PANK4	1	2452247	Missense_Mutation	SNP	T	TCGA-20-0991-01A-03D-0428-08		2452247	246798374	1	8976											
HIVEP3	59269	broad.mit.edu	37	1	42045958	42045958	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr1:42045958G>A	ENST00000372583.1	-	4	5396	c.4511C>T	c.(4510-4512)tCa>tTa	p.S1504L	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1504L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1504L|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1504L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1504					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1504L(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGATGGATCTGAGGACAGGCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											95	105	102					1																	42045958		2203	4300	6503	41818545	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4511C>T	1.37:g.42045958G>A	ENSP00000361664:p.Ser1504Leu		41818545	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	4.176	0.031253	0.08101	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07216	3.22;3.21;3.21;3.22	5.37	3.37	0.38596	.	0.709812	0.12291	N	0.482033	T	0.04815	0.0130	N	0.17474	0.49	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.37361	-0.9709	10	0.28530	T	0.3	-0.3029	4.3533	0.11165	0.2304:0.3408:0.4287:0.0	.	1504;1504	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1504	ENSP00000361665:S1504L;ENSP00000361664:S1504L;ENSP00000247584:S1504L;ENSP00000410828:S1504L	ENSP00000247584:S1504L	S	-	2	0	HIVEP3	41818545	0.029000	0.19370	0.256000	0.24389	0.440000	0.31957	1.329000	0.33770	1.504000	0.48704	0.655000	0.94253	TCA		0.562	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	42045958	G	A	42045958	3	1	161	1	0	0	0	0	1	0	0	0	7188	1294	45	2	2733	2	HIVEP3	1	42045958	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	39593711	42045958	207204663	2	8977											
PRKAA2	5563	broad.mit.edu	37	1	57173243	57173243	+	Missense_Mutation	SNP	A	A	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr1:57173243A>G	ENST00000371244.4	+	9	1582	c.1516A>G	c.(1516-1518)Act>Gct	p.T506A		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	506					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.T506A(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TGATTCCACAACTGCAGAGAG	0.493																																																2	Substitution - Missense(2)	ovary(2)	1											164	154	157					1																	57173243		2203	4300	6503	56945831	SO:0001583	missense	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1516A>G	1.37:g.57173243A>G	ENSP00000360290:p.Thr506Ala		56945831	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	0.839	-0.742599	0.03088	.	.	ENSG00000162409	ENST00000371244	T	0.08807	3.05	5.99	0.865	0.19074	.	0.281293	0.40554	N	0.001066	T	0.02649	0.0080	N	0.08118	0	0.25119	N	0.990655	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	10	0.08179	T	0.78	-11.4974	2.157	0.03814	0.4817:0.1211:0.2802:0.117	.	506	P54646	AAPK2_HUMAN	A	506	ENSP00000360290:T506A	ENSP00000360290:T506A	T	+	1	0	PRKAA2	56945831	0.004000	0.15560	0.005000	0.12908	0.506000	0.33950	0.640000	0.24705	0.159000	0.19401	-1.054000	0.02325	ACT		0.493	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		G	57173243	A	G	57173243	3	3	161	1	0	0	0	0	1	0	0	0	12497	43	2	4	1550	4	PRKAA2	1	57173243	Missense_Mutation	SNP	A	TCGA-20-0991-01A-03D-0428-08	15127285	57173243	192077378	3	8978											
HIPK1	204851	broad.mit.edu	37	1	114483238	114483238	+	Missense_Mutation	SNP	C	C	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr1:114483238C>A	ENST00000369558.1	+	2	465	c.233C>A	c.(232-234)gCt>gAt	p.A78D	HIPK1_ENST00000369554.2_Missense_Mutation_p.A78D|HIPK1_ENST00000369561.4_Missense_Mutation_p.A78D|HIPK1_ENST00000369555.2_Missense_Mutation_p.A78D|HIPK1_ENST00000369559.4_Missense_Mutation_p.A78D|HIPK1_ENST00000426820.2_Missense_Mutation_p.A78D			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	78					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A78D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCTCCCAGCTCCTGCAGTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											101	103	102					1																	114483238		2203	4300	6503	114284761	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.233C>A	1.37:g.114483238C>A	ENSP00000358571:p.Ala78Asp		114284761	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533602	0.64972	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.55588	0.6;0.65;0.64;0.65;0.65;0.64;0.64;0.51;0.52	5.22	4.3	0.51218	.	0.000000	0.64402	D	0.000007	T	0.56426	0.1984	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.981;0.994	T	0.63143	-0.6703	10	0.66056	D	0.02	.	15.7542	0.78011	0.0:0.8632:0.1368:0.0	.	78;78	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	D	149;78;78;78;78;78;78;78;78	ENSP00000407442:A149D;ENSP00000358572:A78D;ENSP00000409673:A78D;ENSP00000358567:A78D;ENSP00000358568:A78D;ENSP00000358571:A78D;ENSP00000358574:A78D;ENSP00000422322:A78D;ENSP00000426695:A78D	ENSP00000358567:A78D	A	+	2	0	HIPK1	114284761	1.000000	0.71417	0.939000	0.37840	0.953000	0.61014	5.889000	0.69766	1.172000	0.42781	0.650000	0.86243	GCT		0.552	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		A	114483238	C	A	114483238	3	1	161	1	0	0	0	0	1	0	0	0	7116	797	28	3	235	3	HIPK1	1	114483238	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08	57309995	114483238	134767383	4	8979											
C1orf85	112770	broad.mit.edu	37	1	156264616	156264616	+	Silent	SNP	G	G	A	rs151318535	byFrequency	TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr1:156264616G>A	ENST00000362007.1	-	2	338	c.312C>T	c.(310-312)ccC>ccT	p.P104P	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	104					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P104P(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GGCCCCCATCGGGCTCAGGGG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	1						G		0,4406		0,0,2203	104	114	111		312	-3.7	0.2	1	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C1orf85	NM_144580.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		104/407	156264616	2,13004	2203	4300	6503	154531240	SO:0001819	synonymous_variant	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.312C>T	1.37:g.156264616G>A			154531240	A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	ENST00000362007.1	37	CCDS1139.1																																																																																				0.587	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		A	156264616	G	A	156264616	2	1	161	1	0	0	0	0	0	0	0	1	2062	1103	39	1		1	C1orf85	1	156264616	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08	41781378	156264616	92986005	5	8980											
COPA	1314	broad.mit.edu	37	1	160268941	160268941	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr1:160268941G>A	ENST00000241704.7	-	18	2010	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	COPA_ENST00000368069.3_Missense_Mutation_p.P603L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	594					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.P594L(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAACTCAGTGGGATCAATGGT	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											135	130	132					1																	160268941		2203	4300	6503	158535565	SO:0001583	missense	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1781C>T	1.37:g.160268941G>A	ENSP00000241704:p.Pro594Leu		158535565	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236290	0.58886	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.57436	0.44;0.4	4.98	4.07	0.47477	Coatomer, WD associated region (1);	0.049708	0.85682	D	0.000000	T	0.47655	0.1457	M	0.79805	2.47	0.80722	D	1	B;B	0.26081	0.002;0.141	B;B	0.36959	0.031;0.237	T	0.56595	-0.7953	10	0.56958	D	0.05	-9.065	12.2277	0.54470	0.0828:0.0:0.9172:0.0	.	594;603	P53621;P53621-2	COPA_HUMAN;.	L	603;594	ENSP00000357048:P603L;ENSP00000241704:P594L	ENSP00000241704:P594L	P	-	2	0	COPA	158535565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.186000	0.94906	1.333000	0.45449	0.585000	0.79938	CCC		0.453	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		A	160268941	G	A	160268941	3	1	161	1	0	0	0	0	1	0	0	0	3727	1232	43	2	1957	2	COPA	1	160268941	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	4004325	160268941	88981680	6	8981											
ADAMTS4	9507	broad.mit.edu	37	1	161163815	161163815	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr1:161163815G>C	ENST00000367996.5	-	5	1886	c.1458C>G	c.(1456-1458)caC>caG	p.H486Q	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	486	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.H486Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CCCAGGGCGAGTGTTTGGTCT	0.657																																																1	Substitution - Missense(1)	ovary(1)	1											48	52	51					1																	161163815		2203	4299	6502	159430439	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1458C>G	1.37:g.161163815G>C	ENSP00000356975:p.His486Gln		159430439	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952659	0.73787	.	.	ENSG00000158859	ENST00000367996	T	0.03413	3.94	5.29	0.682	0.17992	.	0.000000	0.64402	D	0.000002	T	0.06050	0.0157	M	0.84156	2.68	0.80722	D	1	P	0.45474	0.859	P	0.49829	0.623	T	0.08452	-1.0721	10	0.87932	D	0	.	14.177	0.65549	0.1288:0.0:0.8712:0.0	.	486	O75173	ATS4_HUMAN	Q	486	ENSP00000356975:H486Q	ENSP00000356975:H486Q	H	-	3	2	ADAMTS4	159430439	1.000000	0.71417	0.981000	0.43875	0.979000	0.70002	1.159000	0.31749	-0.035000	0.13691	0.561000	0.74099	CAC		0.657	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		C	161163815	G	C	161163815	3	2	161	1	0	0	0	0	1	0	0	0	268	1020	36	3	1075	3	ADAMTS4	1	161163815	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	894874	161163815	88086806	7	8982											
USH2A	7399	broad.mit.edu	37	1	216062312	216062312	+	Missense_Mutation	SNP	T	T	C	rs370155266		TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr1:216062312T>C	ENST00000307340.3	-	41	8065	c.7679A>G	c.(7678-7680)aAt>aGt	p.N2560S	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N2560S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2560	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N2560S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATAACCCCATTGGATTTTCT	0.403										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1						T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	107	107	107		7679	4.5	0.6	1		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	46	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	probably-damaging	2560/5203	216062312	2,13004	2203	4300	6503	214128935	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7679A>G	1.37:g.216062312T>C	ENSP00000305941:p.Asn2560Ser		214128935	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756038	0.69648	2.27E-4	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58940	0.3;0.3	5.61	4.48	0.54585	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000197	T	0.79441	0.4446	M	0.92026	3.265	0.44754	D	0.997759	D	0.89917	1.0	D	0.87578	0.998	T	0.82414	-0.0469	10	0.72032	D	0.01	.	11.5339	0.50626	0.0:0.07:0.0:0.93	.	2560	O75445	USH2A_HUMAN	S	2560	ENSP00000305941:N2560S;ENSP00000355910:N2560S	ENSP00000305941:N2560S	N	-	2	0	USH2A	214128935	1.000000	0.71417	0.639000	0.29394	0.983000	0.72400	3.932000	0.56537	0.955000	0.37878	0.533000	0.62120	AAT		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216062312	T	C	216062312	3	2	161	1	0	0	0	0	1	0	0	0	17036	1493	52	4	8057	4	USH2A	1	216062312	Missense_Mutation	SNP	T	TCGA-20-0991-01A-03D-0428-08	54898497	216062312	33188309	8	8983											
TSGA10	80705	broad.mit.edu	37	2	99688314	99688314	+	Missense_Mutation	SNP	A	A	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr2:99688314A>G	ENST00000393483.3	-	14	1806	c.962T>C	c.(961-963)gTg>gCg	p.V321A	TSGA10_ENST00000355053.4_Missense_Mutation_p.V321A|TSGA10_ENST00000542655.1_3'UTR|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.V321A|TSGA10_ENST00000410001.1_Missense_Mutation_p.V321A	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	321					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.V321A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGTTCACACACAATTAGGGC	0.423																																																1	Substitution - Missense(1)	ovary(1)	2											146	134	138					2																	99688314		2203	4300	6503	99054746	SO:0001583	missense	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.962T>C	2.37:g.99688314A>G	ENSP00000377123:p.Val321Ala		99054746	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776828	0.31411	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	D;D;D;D;T;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.08;-1.55	5.35	5.35	0.76521	.	0.156624	0.45606	D	0.000350	T	0.63034	0.2477	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.58934	-0.7548	10	0.09084	T	0.74	-8.4088	9.4583	0.38769	0.8216:0.1784:0.0:0.0	.	321	Q9BZW7	TSG10_HUMAN	A	321	ENSP00000377123:V321A;ENSP00000386956:V321A;ENSP00000347161:V321A;ENSP00000444419:V321A;ENSP00000386508:V321A;ENSP00000377122:V321A	ENSP00000347161:V321A	V	-	2	0	TSGA10	99054746	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.749000	0.26320	2.258000	0.74832	0.529000	0.55759	GTG		0.423	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		G	99688314	A	G	99688314	3	3	161	1	0	0	0	0	1	0	0	0	16617	159	6	4	1166	4	TSGA10	2	99688314	Missense_Mutation	SNP	A	TCGA-20-0991-01A-03D-0428-08		99688314	143511059	9	8984											
GLI2	2736	broad.mit.edu	37	2	121747935	121747935	+	Missense_Mutation	SNP	G	G	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr2:121747935G>T	ENST00000452319.1	+	14	4505	c.4445G>T	c.(4444-4446)aGc>aTc	p.S1482I	GLI2_ENST00000361492.4_Missense_Mutation_p.S1482I|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2									p.S1482I(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGTCAGGACAGCATCCAGCCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	2											69	74	72					2																	121747935		2203	4300	6503	121464405	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4445G>T	2.37:g.121747935G>T	ENSP00000390436:p.Ser1482Ile		121464405		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	7.064	0.566976	0.13560	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.15834	2.39;2.39	4.36	1.53	0.23141	.	0.565334	0.18369	N	0.143321	T	0.16557	0.0398	L	0.50333	1.59	0.19300	N	0.999979	P;P	0.49559	0.877;0.925	B;P	0.44990	0.216;0.466	T	0.16541	-1.0399	10	0.20519	T	0.43	.	9.6278	0.39761	0.3686:0.0:0.6314:0.0	.	1482;1137	P10070;P10070-2	GLI2_HUMAN;.	I	1482	ENSP00000390436:S1482I;ENSP00000354586:S1482I	ENSP00000354586:S1482I	S	+	2	0	GLI2	121464405	0.014000	0.17966	0.109000	0.21407	0.410000	0.31052	0.467000	0.22035	0.119000	0.18210	-0.263000	0.10527	AGC		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121747935	G	T	121747935	3	4	161	1	0	0	0	0	1	0	0	0	6438	971	34	3	4495	3	GLI2	2	121747935	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	22059621	121747935	121451438	10	8985											
NCKAP5	344148	broad.mit.edu	37	2	133542216	133542216	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr2:133542216C>G	ENST00000409261.1	-	14	2541	c.2168G>C	c.(2167-2169)aGa>aCa	p.R723T	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R723T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	723										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCAGCAGCTCTTGGCTGTAA	0.413																																																0			2											82	77	79					2																	133542216		1845	4111	5956	133258686	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2168G>C	2.37:g.133542216C>G	ENSP00000387128:p.Arg723Thr		133258686	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	11.24	1.580306	0.28180	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.42131	0.98;0.98	5.4	3.34	0.38264	.	0.424346	0.16877	U	0.195854	T	0.22166	0.0534	N	0.08118	0	0.49582	D	0.999802	B	0.02656	0.0	B	0.01281	0.0	T	0.04347	-1.0958	10	0.66056	D	0.02	.	7.2791	0.26302	0.0:0.5923:0.3046:0.1031	.	723	O14513	NCKP5_HUMAN	T	723	ENSP00000387128:R723T;ENSP00000380603:R723T	ENSP00000380603:R723T	R	-	2	0	NCKAP5	133258686	0.000000	0.05858	0.508000	0.27688	0.893000	0.52053	0.198000	0.17217	0.650000	0.30769	0.651000	0.88453	AGA		0.413	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		G	133542216	C	G	133542216	3	3	161	1	0	0	0	0	1	0	0	0	10223	913	32	3	3589	3	NCKAP5	2	133542216	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08	11794281	133542216	109657157	11	8986											
LCT	3938	broad.mit.edu	37	2	136564711	136564711	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr2:136564711G>A	ENST00000264162.2	-	9	4170	c.4160C>T	c.(4159-4161)tCt>tTt	p.S1387F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1387	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S1387F(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATATGCAGCAGAAGCTGCACT	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											126	101	110					2																	136564711		2203	4300	6503	136281181	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4160C>T	2.37:g.136564711G>A	ENSP00000264162:p.Ser1387Phe		136281181	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807347	0.90623	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.35421	1.31	5.87	5.87	0.94306	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.345527	0.33346	N	0.005004	T	0.69205	0.3085	M	0.91612	3.225	0.38057	D	0.935965	D	0.56035	0.974	D	0.64687	0.928	T	0.76900	-0.2788	10	0.72032	D	0.01	-17.9564	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1387	P09848	LPH_HUMAN	F	1387;819	ENSP00000264162:S1387F	ENSP00000264162:S1387F	S	-	2	0	LCT	136281181	0.997000	0.39634	0.728000	0.30774	0.967000	0.64934	7.610000	0.82949	2.780000	0.95670	0.655000	0.94253	TCT		0.567	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136564711	G	A	136564711	3	1	161	1	0	0	0	0	1	0	0	0	8693	942	33	2	1659	2	LCT	2	136564711	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	3022495	136564711	106634662	12	8987											
RBM44	375316	broad.mit.edu	37	2	238722286	238722286	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr2:238722286G>C	ENST00000409864.1	+	2	291	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	RBM44_ENST00000444524.2_3'UTR|RBM44_ENST00000316997.4_Missense_Mutation_p.G13R			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	12						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.G13R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GACAGCATCTGGTAAAGGCTA	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											68	67	67					2																	238722286		1902	4125	6027	238387025	SO:0001583	missense	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.37G>C	2.37:g.238722286G>C	ENSP00000386727:p.Gly13Arg		238387025	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568301	0.45798	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.29397	1.57;1.57	4.25	0.503	0.16940	.	1.272590	0.05356	N	0.532843	T	0.27524	0.0676	L	0.34521	1.04	0.09310	N	1	P	0.44877	0.845	B	0.44278	0.445	T	0.25502	-1.0130	10	0.54805	T	0.06	-1.3307	6.2308	0.20734	0.4266:0.0:0.5734:0.0	.	12	Q6ZP01	RBM44_HUMAN	R	13	ENSP00000321179:G13R;ENSP00000386727:G13R	ENSP00000321179:G13R	G	+	1	0	RBM44	238387025	0.199000	0.23386	0.001000	0.08648	0.894000	0.52154	-0.074000	0.11450	0.076000	0.16826	0.655000	0.94253	GGT		0.388	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		C	238722286	G	C	238722286	3	2	161	1	0	0	0	0	1	0	0	0	13141	1348	47	3	39	3	RBM44	2	238722286	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	102157575	238722286	4477087	13	8988											
HHATL	57467	broad.mit.edu	37	3	42739827	42739827	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr3:42739827C>T	ENST00000441594.1	-	6	761	c.500G>A	c.(499-501)gGc>gAc	p.G167D	HHATL_ENST00000310417.5_Missense_Mutation_p.G167D	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	167					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.G167D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ATCAAAAGTGCCTGTTACAAA	0.572																																																1	Substitution - Missense(1)	ovary(1)	3											61	62	62					3																	42739827		2203	4300	6503	42714831	SO:0001583	missense	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.500G>A	3.37:g.42739827C>T	ENSP00000405423:p.Gly167Asp		42714831	Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	c	17.64	3.438633	0.62955	.	.	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462;ENST00000416756;ENST00000455195;ENST00000417472	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	5.07	4.18	0.49190	.	0.094699	0.64402	D	0.000001	D	0.84247	0.5430	L	0.54323	1.7	0.80722	D	1	P	0.34864	0.473	B	0.38712	0.28	T	0.80386	-0.1404	10	0.19147	T	0.46	-26.4652	13.958	0.64162	0.0:0.9257:0.0:0.0743	.	167	Q9HCP6	HHATL_HUMAN	D	167;167;76;102;167;167;102	ENSP00000310621:G167D;ENSP00000405423:G167D;ENSP00000403787:G102D;ENSP00000395779:G167D;ENSP00000415351:G167D	ENSP00000310621:G167D	G	-	2	0	HHATL	42714831	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.864000	0.69575	2.643000	0.89663	0.556000	0.70494	GGC		0.572	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		T	42739827	C	T	42739827	3	4	161	1	0	0	0	0	1	0	0	0	7090	739	26	2	1042	2	HHATL	3	42739827	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08		42739827	155282603	14	8989											
ZMYND10	51364	broad.mit.edu	37	3	50382649	50382649	+	Missense_Mutation	SNP	T	T	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr3:50382649T>C	ENST00000231749.3	-	2	1379	c.107A>G	c.(106-108)cAt>cGt	p.H36R	ZMYND10_ENST00000360165.3_Missense_Mutation_p.H36R|ZMYND10_ENST00000490675.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|NPRL2_ENST00000493465.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	36					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.H36R(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGGTTCTCATGCTGCTGGTT	0.582										TSP Lung(30;0.18)																																						1	Substitution - Missense(1)	ovary(1)	3											141	113	123					3																	50382649		2203	4300	6503	50357653	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.107A>G	3.37:g.50382649T>C	ENSP00000231749:p.His36Arg		50357653	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020796	0.75275	.	.	ENSG00000004838	ENST00000231749;ENST00000360165	T;T	0.28069	1.63;1.63	4.98	4.98	0.66077	.	0.045659	0.85682	D	0.000000	T	0.40932	0.1137	M	0.70275	2.135	0.58432	D	0.999999	P;P	0.52170	0.951;0.64	P;B	0.46796	0.527;0.256	T	0.40961	-0.9535	10	0.48119	T	0.1	-16.4722	14.9628	0.71169	0.0:0.0:0.0:1.0	.	36;36	O75800-2;O75800	.;ZMY10_HUMAN	R	36	ENSP00000231749:H36R;ENSP00000353289:H36R	ENSP00000231749:H36R	H	-	2	0	ZMYND10	50357653	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.318000	0.79029	1.998000	0.58463	0.379000	0.24179	CAT		0.582	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		C	50382649	T	C	50382649	3	2	161	1	0	0	0	0	1	0	0	0	17705	1464	51	4	1259	4	ZMYND10	3	50382649	Missense_Mutation	SNP	T	TCGA-20-0991-01A-03D-0428-08	7642822	50382649	147639781	15	8990											
APOD	347	broad.mit.edu	37	3	195295826	195295826	+	Missense_Mutation	SNP	A	A	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr3:195295826A>G	ENST00000343267.3	-	5	876	c.515T>C	c.(514-516)aTt>aCt	p.I172T		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	172					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)	p.I172T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTTGACATCAATGTTATTAGA	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											160	158	158					3																	195295826		2203	4300	6503	196777115	SO:0001583	missense	347				CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.515T>C	3.37:g.195295826A>G	ENSP00000345179:p.Ile172Thr		196777115	B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	ENST00000343267.3	37	CCDS33925.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595630	0.46318	.	.	ENSG00000189058	ENST00000343267;ENST00000421243	T;T	0.31247	1.5;1.5	6.06	6.06	0.98353	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73154	-0.4072	10	0.87932	D	0	-24.4629	13.0011	0.58676	1.0:0.0:0.0:0.0	.	172	P05090	APOD_HUMAN	T	172;200	ENSP00000345179:I172T;ENSP00000415235:I200T	ENSP00000345179:I172T	I	-	2	0	APOD	196777115	1.000000	0.71417	0.171000	0.22900	0.030000	0.12068	6.515000	0.73751	2.324000	0.78689	0.533000	0.62120	ATT		0.453	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		G	195295826	A	G	195295826	3	3	161	1	0	0	0	0	1	0	0	0	801	101	4	4	58	4	APOD	3	195295826	Missense_Mutation	SNP	A	TCGA-20-0991-01A-03D-0428-08	144913177	195295826	2726604	16	8991											
JAKMIP1	152789	broad.mit.edu	37	4	6086641	6086641	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr4:6086641C>T	ENST00000282924.5	-	5	1371	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E131K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E131K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E296K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E296K	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	296	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.E296*(2)|p.E296K(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAATTCAGTTCAGCAATTTTT	0.393																																																3	Substitution - Nonsense(2)|Substitution - Missense(1)	lung(2)|ovary(1)	4											233	226	228					4																	6086641		2203	4300	6503	6137542	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.886G>A	4.37:g.6086641C>T	ENSP00000282924:p.Glu296Lys		6137542	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136085	0.94517	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.45276	1.37;0.96;1.37;1.37;0.9	4.79	4.79	0.61399	.	0.216872	0.32640	N	0.005823	T	0.59555	0.2202	L	0.54323	1.7	0.51482	D	0.999929	D;B;D;D;B	0.67145	0.996;0.008;0.996;0.996;0.035	D;B;D;D;B	0.76071	0.981;0.009;0.987;0.987;0.015	T	0.63323	-0.6663	10	0.87932	D	0	.	15.0225	0.71640	0.0:1.0:0.0:0.0	.	131;296;131;296;296	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	296;131;296;296;188;296;296;131	ENSP00000386711:E296K;ENSP00000387042:E131K;ENSP00000282924:E296K;ENSP00000386925:E296K;ENSP00000386745:E131K	ENSP00000282924:E296K	E	-	1	0	JAKMIP1	6137542	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	7.396000	0.79891	2.203000	0.70933	0.591000	0.81541	GAA		0.393	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		T	6086641	C	T	6086641	3	4	161	1	0	0	0	0	1	0	0	0	7940	835	29	2	1752	2	JAKMIP1	4	6086641	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08		6086641	185067635	17	8992											
LARP7	51574	broad.mit.edu	37	4	113571627	113571627	+	Silent	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr4:113571627G>A	ENST00000344442.5	+	10	1583	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000324052.6_Silent_p.R435R|LARP7_ENST00000509061.1_Silent_p.R442R|MIR367_ENST00000362299.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR302D_ENST00000362275.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	435					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R435R(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CAGCCAACAGGGAAGAGTGTC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	4											107	99	102					4																	113571627		2203	4300	6503	113791076	SO:0001819	synonymous_variant	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1305G>A	4.37:g.113571627G>A			113791076	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Silent	SNP	ENST00000344442.5	37	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	G	0.252	-1.005741	0.02112	.	.	ENSG00000174720	ENST00000511529	.	.	.	5.4	4.22	0.49857	.	.	.	.	.	T	0.62332	0.2419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59026	-0.7531	4	.	.	.	-1.209	11.0415	0.47833	0.0:0.0:0.1577:0.8422	.	.	.	.	E	229	.	.	G	+	2	0	LARP7	113791076	0.888000	0.30383	0.009000	0.14445	0.057000	0.15508	1.145000	0.31577	0.886000	0.36113	-0.335000	0.08231	GGG		0.428	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		A	113571627	G	A	113571627	2	1	161	1	0	0	0	0	0	0	0	1	8633	1223	43	2		2	LARP7	4	113571627	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08	107484986	113571627	77582649	18	8993											
RNF150	57484	broad.mit.edu	37	4	141889014	141889014	+	Silent	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr4:141889014G>A	ENST00000515673.2	-	2	531	c.498C>T	c.(496-498)atC>atT	p.I166I	RNF150_ENST00000306799.3_Silent_p.I166I|RNF150_ENST00000420921.2_Silent_p.I25I|RNF150_ENST00000379512.2_Silent_p.I25I|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Silent_p.I166I			Q9ULK6	RN150_HUMAN	ring finger protein 150	166	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.I75I(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTATGGCCACGATGTCTTCTA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	4											186	159	168					4																	141889014		2203	4300	6503	142108464	SO:0001819	synonymous_variant	57484			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.498C>T	4.37:g.141889014G>A			142108464	Q3T1D0|Q6ZNW6	Silent	SNP	ENST00000515673.2	37	CCDS34065.1																																																																																				0.488	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		A	141889014	G	A	141889014	2	1	161	1	0	0	0	0	0	0	0	1	13454	1048	37	1		1	RNF150	4	141889014	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08	28317387	141889014	49265262	19	8994											
FAT2	2196	broad.mit.edu	37	5	150922494	150922494	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr5:150922494G>C	ENST00000261800.5	-	9	8206	c.8194C>G	c.(8194-8196)Cct>Gct	p.P2732A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2732	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2732A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCTCTCAGGTGTAGTGCCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	5											111	102	105					5																	150922494		2203	4300	6503	150902687	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8194C>G	5.37:g.150922494G>C	ENSP00000261800:p.Pro2732Ala		150902687	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.275	0.418867	0.11870	.	.	ENSG00000086570	ENST00000261800	T	0.49432	0.78	5.55	4.66	0.58398	Cadherin (4);Cadherin-like (1);	0.200628	0.35466	N	0.003194	T	0.37919	0.1021	L	0.60845	1.875	0.09310	N	1	B	0.27932	0.194	B	0.27887	0.084	T	0.35724	-0.9777	10	0.02654	T	1	.	10.31	0.43704	0.0:0.1222:0.5982:0.2795	.	2732	Q9NYQ8	FAT2_HUMAN	A	2732	ENSP00000261800:P2732A	ENSP00000261800:P2732A	P	-	1	0	FAT2	150902687	0.980000	0.34600	0.998000	0.56505	0.965000	0.64279	2.079000	0.41577	1.299000	0.44798	0.462000	0.41574	CCT		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		C	150922494	G	C	150922494	3	2	161	1	0	0	0	0	1	0	0	0	5690	1261	44	3	4915	3	FAT2	5	150922494	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08		150922494	29992766	20	8995											
ABCC10	89845	broad.mit.edu	37	6	43412975	43412975	+	Missense_Mutation	SNP	C	C	T	rs144273435		TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr6:43412975C>T	ENST00000372530.4	+	14	3168	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	ABCC10_ENST00000244533.3_Missense_Mutation_p.R957W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	985	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R957W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CACCCTTCTCCGGGCAGTGCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	6						C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	82	63	69		2953,2869	4.7	1	6	dbSNP_134	69	1,8599	2.2+/-6.3	0,1,4299	no	missense,missense	ABCC10	NM_001198934.1,NM_033450.2	101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	985/1493,957/1465	43412975	2,13004	2203	4300	6503	43520953	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2953C>T	6.37:g.43412975C>T	ENSP00000361608:p.Arg985Trp		43520953	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974853	0.74360	2.27E-4	1.16E-4	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.89552	-2.53;-2.53	4.69	4.69	0.59074	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.064498	0.64402	D	0.000008	D	0.95354	0.8492	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	D	0.96137	0.9097	10	0.87932	D	0	-26.1574	13.6566	0.62341	0.1551:0.8449:0.0:0.0	.	957;985	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	985;957	ENSP00000361608:R985W;ENSP00000244533:R957W	ENSP00000244533:R957W	R	+	1	2	ABCC10	43520953	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.702000	0.47102	2.428000	0.82296	0.563000	0.77884	CGG		0.607	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43412975	C	T	43412975	3	4	161	1	0	0	0	0	1	0	0	0	50	643	23	1	2915	1	ABCC10	6	43412975	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08		43412975	127702092	21	8996											
C6orf174	387104	broad.mit.edu	37	6	127797200	127797200	+	Silent	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr6:127797200C>T	ENST00000525778.1	-	6	2716	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	SOGA3_ENST00000556132.1_Silent_p.E657E|SOGA3_ENST00000465909.2_Silent_p.E657E|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Silent_p.E657E|SOGA3_ENST00000368268.2_Silent_p.E657E			Q5TF21	SOGA3_HUMAN	SOGA family member 3	657					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.E657E(1)									TCCGCAGCAGCTCCGTCTCGT	0.642																																																1	Substitution - coding silent(1)	ovary(1)	6											51	57	55					6																	127797200		2188	4287	6475	127838893	SO:0001819	synonymous_variant	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1971G>A	6.37:g.127797200C>T			127838893		Silent	SNP	ENST00000525778.1	37	CCDS43505.1																																																																																				0.642	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		T	127797200	C	T	127797200	2	4	161	1	0	0	0	0	0	0	0	1	2345	796	28	2		2	C6orf174	6	127797200	Silent	SNP	C	TCGA-20-0991-01A-03D-0428-08	84384225	127797200	43317867	22	8997											
PHACTR2	9749	broad.mit.edu	37	6	144086568	144086568	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr6:144086568C>T	ENST00000427704.2	+	6	962	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	PHACTR2_ENST00000367582.3_Missense_Mutation_p.H209Y|PHACTR2_ENST00000367584.4_Missense_Mutation_p.H266Y|PHACTR2_ENST00000305766.6_Missense_Mutation_p.H198Y|PHACTR2_ENST00000440869.2_Missense_Mutation_p.H289Y	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	278							protein phosphatase inhibitor activity (GO:0004864)	p.H198Y(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AATAACTTCTCACCTGTCCTC	0.507																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)											1	Substitution - Missense(1)	ovary(1)	6											88	92	91					6																	144086568		1988	4182	6170	144128261	SO:0001583	missense	9749			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.832C>T	6.37:g.144086568C>T	ENSP00000391763:p.His278Tyr		144128261	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531508	0.45073	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000542769;ENST00000367583	T;T;T;T;T;T	0.44083	1.55;1.91;1.56;1.91;1.56;0.93	5.22	5.22	0.72569	.	1.216630	0.05419	N	0.543945	T	0.17916	0.0430	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.01476	-1.1345	10	0.59425	D	0.04	.	16.9731	0.86305	0.0:1.0:0.0:0.0	.	289;198;209;278	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	Y	266;278;198;289;209;156;153;156	ENSP00000356556:H266Y;ENSP00000391763:H278Y;ENSP00000305530:H198Y;ENSP00000417038:H289Y;ENSP00000356554:H209Y;ENSP00000442153:H153Y	ENSP00000305530:H198Y	H	+	1	0	PHACTR2	144128261	0.069000	0.21087	0.010000	0.14722	0.008000	0.06430	3.434000	0.52841	2.450000	0.82876	0.655000	0.94253	CAC		0.507	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		T	144086568	C	T	144086568	3	4	161	1	0	0	0	0	1	0	0	0	11810	826	29	2	904	2	PHACTR2	6	144086568	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08	16289368	144086568	27028499	23	8998											
MACC1	346389	broad.mit.edu	37	7	20197898	20197898	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr7:20197898C>T	ENST00000400331.5	-	5	2394	c.2086G>A	c.(2086-2088)Gtt>Att	p.V696I	MACC1_ENST00000589011.1_Missense_Mutation_p.V696I|MACC1_ENST00000332878.4_Missense_Mutation_p.V696I	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	696					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V696I(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTCTTTATAACATAAGAAACT	0.353																																																1	Substitution - Missense(1)	ovary(1)	7											73	78	77					7																	20197898		2203	4298	6501	20164423	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2086G>A	7.37:g.20197898C>T	ENSP00000383185:p.Val696Ile		20164423	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012862	0.35511	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.32515	1.45;1.45	5.75	2.97	0.34412	.	0.166739	0.52532	N	0.000065	T	0.28499	0.0705	L	0.56280	1.765	0.54753	D	0.999988	B	0.22541	0.071	B	0.19666	0.026	T	0.05099	-1.0906	10	0.45353	T	0.12	-11.3448	11.1124	0.48241	0.0:0.7983:0.0:0.2017	.	696	Q6ZN28	MACC1_HUMAN	I	696	ENSP00000383185:V696I;ENSP00000328410:V696I	ENSP00000328410:V696I	V	-	1	0	MACC1	20164423	1.000000	0.71417	0.874000	0.34290	0.968000	0.65278	2.188000	0.42612	0.350000	0.24002	0.655000	0.94253	GTT		0.353	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		T	20197898	C	T	20197898	3	4	161	1	0	0	0	0	1	0	0	0	9143	478	17	2	484	2	MACC1	7	20197898	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08		20197898	138940765	24	8999											
HERPUD2	64224	broad.mit.edu	37	7	35709888	35709888	+	Silent	SNP	G	G	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr7:35709888G>C	ENST00000396081.1	-	3	1080	c.276C>G	c.(274-276)ccC>ccG	p.P92P	HERPUD2_ENST00000311350.3_Silent_p.P92P|HERPUD2_ENST00000426180.1_5'Flank	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	92					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P92P(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TTGGAGAACTGGGAGGAGTCC	0.378																																																1	Substitution - coding silent(1)	ovary(1)	7											153	143	147					7																	35709888		2203	4300	6503	35676413	SO:0001819	synonymous_variant	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.276C>G	7.37:g.35709888G>C			35676413	A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	CCDS5446.1																																																																																				0.378	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		C	35709888	G	C	35709888	2	2	161	1	0	0	0	0	0	0	0	1	7064	1335	47	3		3	HERPUD2	7	35709888	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08	15511990	35709888	123428775	25	9000											
RIMS2	9699	broad.mit.edu	37	8	104943609	104943609	+	Missense_Mutation	SNP	T	T	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr8:104943609T>C	ENST00000436393.2	+	10	1938	c.1697T>C	c.(1696-1698)cTt>cCt	p.L566P	RIMS2_ENST00000507740.1_Missense_Mutation_p.L580P|RIMS2_ENST00000262231.10_Missense_Mutation_p.L627P|RIMS2_ENST00000406091.3_Missense_Mutation_p.L788P			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	850					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.L580P(1)|p.L566P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTTACTTTCTTCCAGACAGA	0.333										HNSCC(12;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	8											50	49	50					8																	104943609		1800	4058	5858	105012785	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1697T>C	8.37:g.104943609T>C	ENSP00000390665:p.Leu566Pro		105012785	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	T	23.2	4.391061	0.82902	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	6.07	6.07	0.98685	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.93187	0.7830	H	0.96460	3.825	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.998;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;1.0	D	0.95085	0.8217	9	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	850;850;566;627;580;788	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	P	788;803;788;850;580;627;580;580;566	ENSP00000427018:L788P;ENSP00000384892:L788P;ENSP00000425205:L580P;ENSP00000262231:L627P;ENSP00000423559:L580P;ENSP00000386228:L580P;ENSP00000390665:L566P	ENSP00000262231:L627P	L	+	2	0	RIMS2	105012785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.326000	0.78906	0.533000	0.62120	CTT		0.333	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		C	104943609	T	C	104943609	3	2	161	1	0	0	0	0	1	0	0	0	13371	1609	56	4	2535	4	RIMS2	8	104943609	Missense_Mutation	SNP	T	TCGA-20-0991-01A-03D-0428-08		104943609	41420413	26	9001											
EXT1	2131	broad.mit.edu	37	8	119122833	119122833	+	Silent	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr8:119122833C>T	ENST00000378204.2	-	1	1259	c.453G>A	c.(451-453)gcG>gcA	p.A151A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	151					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.A151A(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CAAAGAGGCACGCCTGGCTGG	0.502			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	1	Substitution - coding silent(1)	ovary(1)	8											94	108	103					8																	119122833		2203	4300	6503	119192014	SO:0001819	synonymous_variant	2131	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.453G>A	8.37:g.119122833C>T			119192014	B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	CCDS6324.1																																																																																				0.502	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		T	119122833	C	T	119122833	2	4	161	1	0	0	0	0	0	0	0	1	5323	523	19	1		1	EXT1	8	119122833	Silent	SNP	C	TCGA-20-0991-01A-03D-0428-08	14179224	119122833	27241189	27	9002											
ZNF572	137209	broad.mit.edu	37	8	125989760	125989760	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr8:125989760G>C	ENST00000319286.5	+	3	1404	c.1250G>C	c.(1249-1251)tGc>tCc	p.C417S		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C417S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGTTCTGAGTGCTGGAAAACT	0.418										HNSCC(60;0.17)																																						1	Substitution - Missense(1)	ovary(1)	8											75	74	74					8																	125989760		2203	4300	6503	126058941	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1250G>C	8.37:g.125989760G>C	ENSP00000319305:p.Cys417Ser		126058941	A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851223	0.71719	.	.	ENSG00000180938	ENST00000319286	D	0.85861	-2.04	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000053	D	0.92912	0.7745	M	0.84773	2.715	0.43924	D	0.996573	D	0.89917	1.0	D	0.87578	0.998	D	0.93708	0.7021	10	0.87932	D	0	-9.1514	16.2176	0.82239	0.0:0.0:1.0:0.0	.	417	Q7Z3I7	ZN572_HUMAN	S	417	ENSP00000319305:C417S	ENSP00000319305:C417S	C	+	2	0	ZNF572	126058941	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.538000	0.98072	2.692000	0.91855	0.655000	0.94253	TGC		0.418	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		C	125989760	G	C	125989760	3	2	161	1	0	0	0	0	1	0	0	0	18004	1319	46	3	1256	3	ZNF572	8	125989760	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	6866927	125989760	20374262	28	9003											
COL22A1	169044	broad.mit.edu	37	8	139890117	139890117	+	Silent	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr8:139890117G>A	ENST00000303045.6	-	3	980	c.534C>T	c.(532-534)ggC>ggT	p.G178G	COL22A1_ENST00000435777.1_Silent_p.G178G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	178	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G178G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGAGTGCCTCGCCCACGCCCA	0.677										HNSCC(7;0.00092)																																						1	Substitution - coding silent(1)	ovary(1)	8											24	25	24					8																	139890117		2203	4300	6503	139959299	SO:0001819	synonymous_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.534C>T	8.37:g.139890117G>A			139959299	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.677	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139890117	G	A	139890117	2	1	161	1	0	0	0	0	0	0	0	1	3681	1074	38	1		1	COL22A1	8	139890117	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08	13900357	139890117	6473905	29	9004											
SLC45A4	57210	broad.mit.edu	37	8	142227244	142227244	+	Silent	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr8:142227244G>A	ENST00000024061.3	-	5	1828	c.1521C>T	c.(1519-1521)gtC>gtT	p.V507V	SLC45A4_ENST00000519067.1_Silent_p.V507V|SLC45A4_ENST00000433583.2_Silent_p.V500V|SLC45A4_ENST00000517878.1_Silent_p.V558V	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.V507V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGCCCATCTTGACCCCGGCGT	0.617																																																1	Substitution - coding silent(1)	ovary(1)	8											76	74	75					8																	142227244		2203	4300	6503	142296426	SO:0001819	synonymous_variant	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1521C>T	8.37:g.142227244G>A			142296426	Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	CCDS34948.1																																																																																				0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		A	142227244	G	A	142227244	2	1	161	1	0	0	0	0	0	0	0	1	14646	1277	45	2		2	SLC45A4	8	142227244	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08	2337127	142227244	4136778	30	9005											
BAI1	575	broad.mit.edu	37	8	143570761	143570761	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr8:143570761C>T	ENST00000517894.1	+	16	3487	c.2593C>T	c.(2593-2595)Cgc>Tgc	p.R865C	BAI1_ENST00000323289.5_Missense_Mutation_p.R865C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	865					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R865C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCGCTCCCTGCGCACACCCTT	0.587																																																1	Substitution - Missense(1)	ovary(1)	8											99	109	106					8																	143570761		2057	4198	6255	143567763	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2593C>T	8.37:g.143570761C>T	ENSP00000430945:p.Arg865Cys		143567763		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	C	19.68	3.873664	0.72180	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.09911	2.93;2.93	4.76	3.88	0.44766	.	0.672540	0.13670	U	0.370939	T	0.08980	0.0222	N	0.08118	0	0.32242	N	0.572627	D	0.55172	0.97	P	0.48901	0.594	T	0.14952	-1.0454	10	0.56958	D	0.05	.	10.7948	0.46453	0.0:0.9049:0.0:0.0951	.	865	E9PBK0	.	C	865	ENSP00000430945:R865C;ENSP00000313046:R865C	ENSP00000313046:R865C	R	+	1	0	BAI1	143567763	0.904000	0.30761	1.000000	0.80357	0.987000	0.75469	2.039000	0.41193	0.984000	0.38629	0.462000	0.41574	CGC		0.587	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		T	143570761	C	T	143570761	3	4	161	1	0	0	0	0	1	0	0	0	1298	768	27	1	2651	1	BAI1	8	143570761	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08	1343517	143570761	2793261	31	9006											
HAUS6	54801	broad.mit.edu	37	9	19058102	19058102	+	Missense_Mutation	SNP	T	T	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr9:19058102T>A	ENST00000380502.3	-	16	3130	c.2663A>T	c.(2662-2664)cAt>cTt	p.H888L	HAUS6_ENST00000380496.1_Missense_Mutation_p.H752L	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	888					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.H888L(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGCTCAGTATGCAAATCACA	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											213	201	205					9																	19058102		2203	4300	6503	19048102	SO:0001583	missense	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2663A>T	9.37:g.19058102T>A	ENSP00000369871:p.His888Leu		19048102	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	0.377	-0.930827	0.02359	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.21932	1.99;1.98	5.76	3.42	0.39159	.	0.672895	0.15656	N	0.251138	T	0.17662	0.0424	L	0.57536	1.79	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.38045	-0.9679	10	0.12103	T	0.63	-1.0864	6.4739	0.22024	0.1627:0.0779:0.0:0.7594	.	853;752;888	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	L	888;752	ENSP00000369871:H888L;ENSP00000369865:H752L	ENSP00000369865:H752L	H	-	2	0	HAUS6	19048102	0.777000	0.28628	0.209000	0.23619	0.040000	0.13550	2.896000	0.48656	0.444000	0.26612	-0.605000	0.04089	CAT		0.408	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		A	19058102	T	A	19058102	3	1	161	1	0	0	0	0	1	0	0	0	6970	1464	51	5	212	5	HAUS6	9	19058102	Missense_Mutation	SNP	T	TCGA-20-0991-01A-03D-0428-08		19058102	122155329	32	9007											
TMC1	117531	broad.mit.edu	37	9	75435853	75435853	+	Missense_Mutation	SNP	A	A	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr9:75435853A>G	ENST00000297784.5	+	20	2399	c.1859A>G	c.(1858-1860)aAt>aGt	p.N620S	TMC1_ENST00000396237.3_Missense_Mutation_p.N620S|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.N620S	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	620					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.N620S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATGTGCTGCAATGTTCCTGAG	0.507																																					Pancreas(75;173 1345 14232 34245 43413)											1	Substitution - Missense(1)	ovary(1)	9											202	173	183					9																	75435853		2203	4300	6503	74625673	SO:0001583	missense	117531			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1859A>G	9.37:g.75435853A>G	ENSP00000297784:p.Asn620Ser		74625673	A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.644689	0.87859	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.63255	-0.03;-0.03;-0.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	L	0.60455	1.87	0.54753	D	0.999987	P;P;P	0.43231	0.801;0.801;0.763	P;P;P	0.50617	0.531;0.531;0.646	T	0.61978	-0.6951	10	0.08381	T	0.77	-27.4342	16.2962	0.82776	1.0:0.0:0.0:0.0	.	587;587;620	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	S	620;620;587;587;614;620	ENSP00000297784:N620S;ENSP00000341433:N620S;ENSP00000379538:N620S	ENSP00000297784:N620S	N	+	2	0	TMC1	74625673	1.000000	0.71417	0.934000	0.37439	0.805000	0.45488	7.479000	0.81095	2.304000	0.77564	0.528000	0.53228	AAT		0.507	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			G	75435853	A	G	75435853	3	3	161	1	0	0	0	0	1	0	0	0	15984	101	4	4	1921	4	TMC1	9	75435853	Missense_Mutation	SNP	A	TCGA-20-0991-01A-03D-0428-08	56377751	75435853	65777578	33	9008											
OR13C8	138802	broad.mit.edu	37	9	107332186	107332186	+	Silent	SNP	A	A	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr9:107332186A>C	ENST00000335040.1	+	1	738	c.738A>C	c.(736-738)acA>acC	p.T246T		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T246T(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCCACCTGACAGTGGTGATTA	0.423																																																1	Substitution - coding silent(1)	ovary(1)	9											122	113	116					9																	107332186		2203	4300	6503	106372007	SO:0001819	synonymous_variant	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.738A>C	9.37:g.107332186A>C			106372007	Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	CCDS35090.1																																																																																				0.423	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			C	107332186	A	C	107332186	2	2	161	1	0	0	0	0	0	0	0	1	10938	175	7	5		5	OR13C8	9	107332186	Silent	SNP	A	TCGA-20-0991-01A-03D-0428-08	31896333	107332186	33881245	34	9009											
IDE	3416	broad.mit.edu	37	10	94234621	94234621	+	Missense_Mutation	SNP	T	T	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr10:94234621T>G	ENST00000265986.6	-	17	2149	c.2093A>C	c.(2092-2094)gAt>gCt	p.D698A	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.D143A	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	698					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.D698A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TTTTAACTCATCTTTAGTCCA	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											93	92	93					10																	94234621		2203	4300	6503	94224601	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2093A>C	10.37:g.94234621T>G	ENSP00000265986:p.Asp698Ala		94224601	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011078	0.54361	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.30182	1.54;1.54	5.65	5.65	0.86999	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.174186	0.49305	D	0.000153	T	0.27205	0.0667	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.23540	0.087;0.049	B;B	0.20184	0.021;0.028	T	0.07404	-1.0774	10	0.10377	T	0.69	-11.9137	14.109	0.65111	0.0:0.0:0.0:1.0	.	698;143	P14735;B3KSB8	IDE_HUMAN;.	A	698;143	ENSP00000265986:D698A;ENSP00000360637:D143A	ENSP00000265986:D698A	D	-	2	0	IDE	94224601	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.936000	0.87665	2.154000	0.67381	0.477000	0.44152	GAT		0.393	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		G	94234621	T	G	94234621	3	3	161	1	0	0	0	0	1	0	0	0	7493	1435	50	5	1002	5	IDE	10	94234621	Missense_Mutation	SNP	T	TCGA-20-0991-01A-03D-0428-08		94234621	41300126	35	9010											
MMP21	118856	broad.mit.edu	37	10	127460876	127460876	+	Missense_Mutation	SNP	G	G	A	rs150851206	byFrequency	TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr10:127460876G>A	ENST00000368808.3	-	4	889	c.890C>T	c.(889-891)aCg>aTg	p.T297M		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	297					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T297M(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TATGGATCCCGTCCTGTAGGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	10						G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	116	96	103		890	1	0.1	10	dbSNP_134	103	10,8590	7.7+/-29.5	0,10,4290	yes	missense	MMP21	NM_147191.1	81	0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923	possibly-damaging	297/570	127460876	12,12994	2203	4300	6503	127450866	SO:0001583	missense	118856			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.890C>T	10.37:g.127460876G>A	ENSP00000357798:p.Thr297Met		127450866	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716168	0.30413	4.54E-4	0.001163	ENSG00000154485	ENST00000368808	T	0.17370	2.28	5.05	0.992	0.19819	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.150890	0.06200	N	0.683153	T	0.26048	0.0635	L	0.61036	1.89	0.09310	N	1	D	0.59357	0.985	P	0.49192	0.602	T	0.24657	-1.0154	10	0.56958	D	0.05	-17.5458	7.8275	0.29324	0.4621:0.0:0.5379:0.0	.	297	Q8N119	MMP21_HUMAN	M	297	ENSP00000357798:T297M	ENSP00000357798:T297M	T	-	2	0	MMP21	127450866	0.000000	0.05858	0.131000	0.22000	0.982000	0.71751	0.383000	0.20651	0.159000	0.19401	0.561000	0.74099	ACG		0.532	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			A	127460876	G	A	127460876	3	1	161	1	0	0	0	0	1	0	0	0	9660	1145	40	1	835	1	MMP21	10	127460876	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	33226255	127460876	8073871	36	9011											
INTS4	92105	broad.mit.edu	37	11	77639496	77639496	+	Silent	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr11:77639496G>A	ENST00000534064.1	-	11	1297	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	INTS4_ENST00000525931.1_5'UTR|INTS4_ENST00000529807.1_Silent_p.N421N	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	421					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.N421N(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CAATTTCATCGTTGAACATGT	0.468																																																1	Substitution - coding silent(1)	ovary(1)	11											56	51	52					11																	77639496		2199	4292	6491	77317144	SO:0001819	synonymous_variant	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1263C>T	11.37:g.77639496G>A			77317144	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																				0.468	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		A	77639496	G	A	77639496	2	1	161	1	0	0	0	0	0	0	0	1	7780	1136	40	1		1	INTS4	11	77639496	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08		77639496	57367020	37	9012											
FLI1	2313	broad.mit.edu	37	11	128680520	128680520	+	Silent	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr11:128680520C>T	ENST00000527786.2	+	9	1485	c.996C>T	c.(994-996)taC>taT	p.Y332Y	FLI1_ENST00000344954.6_Silent_p.Y299Y|FLI1_ENST00000534087.2_Silent_p.Y299Y|FLI1_ENST00000281428.8_Silent_p.Y266Y|FLI1_ENST00000525560.1_Silent_p.Y139Y	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	332					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y332Y(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACATGAATTACGACAAGCTGA	0.512			T	EWSR1	Ewing sarcoma																																		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	1	Substitution - coding silent(1)	ovary(1)	11											39	45	43					11																	128680520		2195	4296	6491	128185730	SO:0001819	synonymous_variant	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.996C>T	11.37:g.128680520C>T			128185730	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	CCDS44768.1																																																																																				0.512	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		T	128680520	C	T	128680520	2	4	161	1	0	0	0	0	0	0	0	1	5924	547	19	1		1	FLI1	11	128680520	Silent	SNP	C	TCGA-20-0991-01A-03D-0428-08	51041024	128680520	6325996	38	9013											
SLCO1C1	53919	broad.mit.edu	37	12	20890101	20890101	+	Missense_Mutation	SNP	A	A	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr12:20890101A>T	ENST00000266509.2	+	11	1811	c.1443A>T	c.(1441-1443)aaA>aaT	p.K481N	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.K432N|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.K481N|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.K481N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.K363N	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	481	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.K481N(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CAAGATGCAAATGTTCAGAGA	0.378																																																1	Substitution - Missense(1)	ovary(1)	12											98	91	93					12																	20890101		2203	4300	6503	20781368	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1443A>T	12.37:g.20890101A>T	ENSP00000266509:p.Lys481Asn		20781368	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	1.683	-0.505881	0.04261	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.02	3.88	0.44766	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.384337	0.31922	N	0.006860	T	0.21427	0.0516	N	0.00686	-1.255	0.36578	D	0.873392	P;B;B;B	0.36909	0.573;0.004;0.004;0.001	B;B;B;B	0.34536	0.185;0.017;0.007;0.007	T	0.28776	-1.0033	10	0.07325	T	0.83	.	5.307	0.15809	0.6899:0.1513:0.1588:0.0	.	363;432;481;481	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	N	481;432;481;481;363	ENSP00000444149:K481N;ENSP00000438665:K432N;ENSP00000266509:K481N;ENSP00000370964:K481N;ENSP00000444527:K363N	ENSP00000266509:K481N	K	+	3	2	SLCO1C1	20781368	0.577000	0.26708	1.000000	0.80357	0.994000	0.84299	0.066000	0.14489	1.047000	0.40274	0.528000	0.53228	AAA		0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		T	20890101	A	T	20890101	3	4	161	1	0	0	0	0	1	0	0	0	14728	98	4	5	1481	5	SLCO1C1	12	20890101	Missense_Mutation	SNP	A	TCGA-20-0991-01A-03D-0428-08		20890101	112961794	39	9014											
SP1	6667	broad.mit.edu	37	12	53800433	53800433	+	Silent	SNP	A	A	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr12:53800433A>T	ENST00000327443.4	+	4	1838	c.1740A>T	c.(1738-1740)gcA>gcT	p.A580A	SP1_ENST00000426431.2_Silent_p.A573A	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	580	Transactivation domain C (highly charged).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A580A(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATGACACAGCAGGTGGAGAGG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	12											101	98	99					12																	53800433		2203	4300	6503	52086700	SO:0001819	synonymous_variant	6667			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1740A>T	12.37:g.53800433A>T			52086700	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	CCDS8857.1																																																																																				0.537	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			T	53800433	A	T	53800433	2	4	161	1	0	0	0	0	0	0	0	1	14962	175	7	5		5	SP1	12	53800433	Silent	SNP	A	TCGA-20-0991-01A-03D-0428-08	32910332	53800433	80051462	40	9015											
NEUROD4	58158	broad.mit.edu	37	12	55420538	55420538	+	Silent	SNP	C	C	T	rs145283816		TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr12:55420538C>T	ENST00000242994.3	+	2	693	c.315C>T	c.(313-315)gaC>gaT	p.D105D		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	105	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D105D(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GCCTGAATGACGCCCTGGATA	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		18790	0		0	False		,,,				2504	0															2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	12						C		5,4401	9.9+/-24.2	0,5,2198	86	88	87		315	-10	0.2	12	dbSNP_134	87	0,8600		0,0,4300	no	coding-synonymous	NEUROD4	NM_021191.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		105/332	55420538	5,13001	2203	4300	6503	53706805	SO:0001819	synonymous_variant	58158			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.315C>T	12.37:g.55420538C>T			53706805	B2RAC9	Silent	SNP	ENST00000242994.3	37	CCDS8886.1																																																																																				0.488	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			T	55420538	C	T	55420538	2	4	161	1	0	0	0	0	0	0	0	1	10350	535	19	1		1	NEUROD4	12	55420538	Silent	SNP	C	TCGA-20-0991-01A-03D-0428-08	1620105	55420538	78431357	41	9016											
STAT6	6778	broad.mit.edu	37	12	57502041	57502041	+	Silent	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr12:57502041G>A	ENST00000300134.3	-	2	346	c.21C>T	c.(19-21)gtC>gtT	p.V7V	STAT6_ENST00000538913.2_Intron|STAT6_ENST00000454075.3_Silent_p.V7V|STAT6_ENST00000543873.2_Silent_p.V7V|STAT6_ENST00000556155.1_Silent_p.V7V|STAT6_ENST00000537215.2_Intron	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	7					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.V7V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCATCTTGGAGACCAGACCCC	0.567																																																1	Substitution - coding silent(1)	ovary(1)	12											41	37	38					12																	57502041		2203	4300	6503	55788308	SO:0001819	synonymous_variant	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.21C>T	12.37:g.57502041G>A			55788308	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Silent	SNP	ENST00000300134.3	37	CCDS8931.1																																																																																				0.567	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		A	57502041	G	A	57502041	2	1	161	1	0	0	0	0	0	0	0	1	15272	929	33	2		2	STAT6	12	57502041	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08	2081503	57502041	76349854	42	9017											
TRHDE	29953	broad.mit.edu	37	12	72893328	72893328	+	Silent	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr12:72893328C>T	ENST00000261180.4	+	6	1596	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	500					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D500D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCTGGACGGTTTGGCCA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	12											176	137	150					12																	72893328		2203	4300	6503	71179595	SO:0001819	synonymous_variant	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1500C>T	12.37:g.72893328C>T			71179595	A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	CCDS9004.1																																																																																				0.458	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		T	72893328	C	T	72893328	2	4	161	1	0	0	0	0	0	0	0	1	16479	535	19	1		1	TRHDE	12	72893328	Silent	SNP	C	TCGA-20-0991-01A-03D-0428-08	15391287	72893328	60958567	43	9018											
C12orf34	84915	broad.mit.edu	37	12	110205819	110205819	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr12:110205819G>A	ENST00000538780.1	+	3	801	c.85G>A	c.(85-87)Gag>Aag	p.E29K	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.E29K|FAM222A-AS1_ENST00000541723.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	29								p.E29K(1)									TCCCACAGGCGAGGCGGTGGC	0.642																																																1	Substitution - Missense(1)	ovary(1)	12											45	44	44					12																	110205819		2203	4300	6503	108690202	SO:0001583	missense	84915			AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 34"	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.85G>A	12.37:g.110205819G>A	ENSP00000443292:p.Glu29Lys		108690202	Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884827	0.51908	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.32272	1.46;1.46	3.16	3.16	0.36331	.	0.453258	0.17995	N	0.155080	T	0.26738	0.0654	N	0.22421	0.69	0.51767	D	0.999932	P	0.51537	0.946	P	0.46796	0.527	T	0.12400	-1.0549	10	0.66056	D	0.02	-22.9956	12.9952	0.58642	0.0:0.0:1.0:0.0	.	29	Q5U5X8	CL034_HUMAN	K	29	ENSP00000443292:E29K;ENSP00000351783:E29K	ENSP00000351783:E29K	E	+	1	0	C12orf34	108690202	1.000000	0.71417	0.935000	0.37517	0.725000	0.41563	8.033000	0.88852	1.591000	0.50007	0.305000	0.20034	GAG		0.642	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		A	110205819	G	A	110205819	3	1	161	1	0	0	0	0	1	0	0	0	1681	1059	37	1	91	1	C12orf34	12	110205819	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	37312491	110205819	23646076	44	9019											
CCDC62	84660	broad.mit.edu	37	12	123276578	123276578	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr12:123276578G>A	ENST00000253079.6	+	6	1026	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.E228K|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	228					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.E228K(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GGACCTCAATGAAAAGACGAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	12											118	119	119					12																	123276578		2203	4300	6503	121842531	SO:0001583	missense	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.682G>A	12.37:g.123276578G>A	ENSP00000253079:p.Glu228Lys		121842531	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974794	0.34848	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.32988	1.44;1.43	5.11	4.2	0.49525	.	0.184368	0.34314	N	0.004068	T	0.37758	0.1015	L	0.41824	1.3	0.80722	D	1	B;D	0.60160	0.006;0.987	B;P	0.56612	0.011;0.802	T	0.07366	-1.0776	10	0.38643	T	0.18	-23.6379	11.8116	0.52185	0.0:0.177:0.823:0.0	.	228;228	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	K	228	ENSP00000253079:E228K;ENSP00000376236:E228K	ENSP00000253079:E228K	E	+	1	0	CCDC62	121842531	1.000000	0.71417	0.931000	0.37212	0.633000	0.38033	3.873000	0.56093	1.236000	0.43740	0.585000	0.79938	GAA		0.398	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		A	123276578	G	A	123276578	3	1	161	1	0	0	0	0	1	0	0	0	2833	1291	45	2	704	2	CCDC62	12	123276578	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	13070759	123276578	10575317	45	9020											
TMEM132B	114795	broad.mit.edu	37	12	126004167	126004167	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr12:126004167C>T	ENST00000299308.3	+	4	1282	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	425						integral component of membrane (GO:0016021)		p.A425V(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTCCCTCTTGCCATGGTGAGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	12											79	77	78					12																	126004167		1949	4140	6089	124570120	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1274C>T	12.37:g.126004167C>T	ENSP00000299308:p.Ala425Val		124570120	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	c	15.87	2.959275	0.53400	.	.	ENSG00000139364	ENST00000299308	T	0.17370	2.28	5.12	4.24	0.50183	.	0.000000	0.34700	U	0.003748	T	0.19604	0.0471	L	0.42581	1.335	0.80722	D	1	P	0.39282	0.666	B	0.42214	0.38	T	0.01715	-1.1289	10	0.52906	T	0.07	.	13.6578	0.62348	0.0:0.9253:0.0:0.0747	.	425	Q14DG7	T132B_HUMAN	V	425	ENSP00000299308:A425V	ENSP00000299308:A425V	A	+	2	0	TMEM132B	124570120	0.955000	0.32602	0.005000	0.12908	0.932000	0.56968	2.389000	0.44407	1.204000	0.43247	0.621000	0.83404	GCC		0.483	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126004167	C	T	126004167	3	4	161	1	0	0	0	0	1	0	0	0	16046	739	26	2	1288	2	TMEM132B	12	126004167	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08	2727589	126004167	7847728	46	9021											
POSTN	10631	broad.mit.edu	37	13	38156560	38156560	+	Silent	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr13:38156560G>A	ENST00000379747.4	-	10	1452	c.1335C>T	c.(1333-1335)aaC>aaT	p.N445N	POSTN_ENST00000379742.4_Silent_p.N445N|POSTN_ENST00000541481.1_Silent_p.N445N|POSTN_ENST00000541179.1_Silent_p.N445N|POSTN_ENST00000379749.4_Silent_p.N445N|POSTN_ENST00000379743.4_Silent_p.N445N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	445	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.N445N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTATTTGCCCGTTGTAAAGCT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	13											153	148	149					13																	38156560		2203	4300	6503	37054560	SO:0001819	synonymous_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1335C>T	13.37:g.38156560G>A			37054560	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	CCDS9364.1																																																																																				0.378	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		A	38156560	G	A	38156560	2	1	161	1	0	0	0	0	0	0	0	1	12259	1136	40	1		1	POSTN	13	38156560	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08		38156560	77013318	47	9022											
DHRS2	10202	broad.mit.edu	37	14	24108162	24108162	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr14:24108162G>A	ENST00000250383.6	+	2	565	c.89G>A	c.(88-90)aGg>aAg	p.R30K	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.R30K	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	30					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.R30K(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GGGATAGACAGGAAGGGCGTC	0.617																																																1	Substitution - Missense(1)	ovary(1)	14											88	88	88					14																	24108162		2203	4300	6503	23178002	SO:0001583	missense	10202				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.89G>A	14.37:g.24108162G>A	ENSP00000250383:p.Arg30Lys		23178002	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642971	0.29246	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	D;T;D	0.82255	-1.53;-1.49;-1.59	4.65	-4.11	0.03928	.	2.339910	0.01707	N	0.027508	T	0.69052	0.3068	L	0.31476	0.935	0.09310	N	1	B;B;B;B	0.14438	0.001;0.001;0.006;0.01	B;B;B;B	0.14023	0.01;0.006;0.002;0.008	T	0.51132	-0.8744	10	0.19147	T	0.46	.	2.683	0.05100	0.2787:0.1567:0.4297:0.1349	.	8;30;30;8	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	K	30	ENSP00000401213:R30K;ENSP00000250383:R30K;ENSP00000344674:R30K	ENSP00000250383:R30K	R	+	2	0	DHRS2	23178002	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.142000	0.00286	-0.645000	0.05458	-0.471000	0.05019	AGG		0.617	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		A	24108162	G	A	24108162	3	1	161	1	0	0	0	0	1	0	0	0	4490	1000	35	2	91	2	DHRS2	14	24108162	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08		24108162	83241378	48	9023											
SIX4	51804	broad.mit.edu	37	14	61187159	61187159	+	Missense_Mutation	SNP	A	A	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr14:61187159A>C	ENST00000216513.4	-	2	927	c.868T>G	c.(868-870)Tca>Gca	p.S290A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	290					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S290A(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTGCCATCTGACTCACTGTAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	14											81	80	80					14																	61187159		2203	4300	6503	60256912	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.868T>G	14.37:g.61187159A>C	ENSP00000216513:p.Ser290Ala		60256912	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913123	0.72983	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.91407	-2.84	5.62	5.62	0.85841	Homeodomain-related (1);Homeodomain-like (1);	0.672116	0.15151	N	0.277722	D	0.91616	0.7351	L	0.34521	1.04	0.54753	D	0.999987	B;D	0.61080	0.181;0.989	B;P	0.58520	0.06;0.84	D	0.91752	0.5413	10	0.66056	D	0.02	.	15.8389	0.78824	1.0:0.0:0.0:0.0	.	282;290	G3V2N2;Q9UIU6	.;SIX4_HUMAN	A	290;282	ENSP00000216513:S290A	ENSP00000216513:S290A	S	-	1	0	SIX4	60256912	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.959000	0.93110	2.150000	0.67090	0.533000	0.62120	TCA		0.468	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			C	61187159	A	C	61187159	3	2	161	1	0	0	0	0	1	0	0	0	14352	275	10	5	1485	5	SIX4	14	61187159	Missense_Mutation	SNP	A	TCGA-20-0991-01A-03D-0428-08	37078997	61187159	46162381	49	9024											
GALNTL1	57452	broad.mit.edu	37	14	69808446	69808446	+	Silent	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr14:69808446C>T	ENST00000337827.4	+	12	1563	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	GALNT16_ENST00000448469.3_Silent_p.F412F|GALNT16_ENST00000553669.1_Silent_p.F412F	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	412					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F412F(1)									GCAAGTCCTTCCGCTGGTACC	0.612																																																1	Substitution - coding silent(1)	ovary(1)	14											88	59	68					14																	69808446		2203	4300	6503	68878199	SO:0001819	synonymous_variant	57452			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1236C>T	14.37:g.69808446C>T			68878199	Q4KMG3|Q58A55|Q9ULT9	Silent	SNP	ENST00000337827.4	37	CCDS32107.1																																																																																				0.612	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		T	69808446	C	T	69808446	2	4	161	1	0	0	0	0	0	0	0	1	6221	854	30	2		2	GALNTL1	14	69808446	Silent	SNP	C	TCGA-20-0991-01A-03D-0428-08	8621287	69808446	37541094	50	9025											
TMOD3	29766	broad.mit.edu	37	15	52181327	52181327	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr15:52181327C>G	ENST00000308580.7	+	5	762	c.481C>G	c.(481-483)Caa>Gaa	p.Q161E	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.Q161E	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	161						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.Q161E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TGGTGTTGACCAAGAACATTT	0.294																																					Colon(122;1837 2251 18387 22826)											1	Substitution - Missense(1)	ovary(1)	15											74	75	75					15																	52181327		2194	4278	6472	49968619	SO:0001583	missense	29766			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.481C>G	15.37:g.52181327C>G	ENSP00000308753:p.Gln161Glu		49968619	B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	C	6.278	0.419327	0.11928	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.12879	2.64;2.64	5.68	9.9E-4	0.14044	.	0.475067	0.22496	N	0.059297	T	0.07234	0.0183	N	0.25647	0.755	0.29655	N	0.843656	B	0.02656	0.0	B	0.01281	0.0	T	0.42481	-0.9449	10	0.07030	T	0.85	-4.8208	9.5548	0.39332	0.389:0.3109:0.3001:0.0	.	161	Q9NYL9	TMOD3_HUMAN	E	161	ENSP00000308753:Q161E;ENSP00000438909:Q161E	ENSP00000308753:Q161E	Q	+	1	0	TMOD3	49968619	0.959000	0.32827	0.577000	0.28562	0.881000	0.50899	1.107000	0.31110	0.022000	0.15160	-0.150000	0.13652	CAA		0.294	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			G	52181327	C	G	52181327	3	3	161	1	0	0	0	0	1	0	0	0	16235	595	21	3	495	3	TMOD3	15	52181327	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08		52181327	50350065	51	9026											
RNF111	54778	broad.mit.edu	37	15	59383326	59383326	+	Missense_Mutation	SNP	A	A	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr15:59383326A>T	ENST00000557998.1	+	12	2999	c.2712A>T	c.(2710-2712)agA>agT	p.R904S	RNF111_ENST00000348370.4_Missense_Mutation_p.R904S|RNF111_ENST00000559209.1_Missense_Mutation_p.R913S|RNF111_ENST00000561186.1_Missense_Mutation_p.R913S|RNF111_ENST00000434298.1_Missense_Mutation_p.R913S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	904					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R904S(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CAATTGAAAGATGTACATATC	0.323																																					NSCLC(72;983 1365 10746 34387 47081)											1	Substitution - Missense(1)	ovary(1)	15											119	123	121					15																	59383326		2192	4291	6483	57170618	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2712A>T	15.37:g.59383326A>T	ENSP00000452732:p.Arg904Ser		57170618	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239419	0.58995	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.16196	2.36;2.36	5.25	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.49126	1.545	0.80722	D	1	D;D;B	0.62365	0.991;0.981;0.13	P;P;B	0.60541	0.876;0.69;0.162	T	0.00761	-1.1577	10	0.45353	T	0.12	-18.1652	8.5557	0.33480	0.7797:0.0:0.2203:0.0	.	913;904;904	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	S	904;913	ENSP00000288199:R904S;ENSP00000393641:R913S	ENSP00000288199:R904S	R	+	3	2	RNF111	57170618	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.794000	0.47853	0.454000	0.26884	0.528000	0.53228	AGA		0.323	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		T	59383326	A	T	59383326	3	4	161	1	0	0	0	0	1	0	0	0	13428	330	12	5	2754	5	RNF111	15	59383326	Missense_Mutation	SNP	A	TCGA-20-0991-01A-03D-0428-08	7201999	59383326	43148066	52	9027											
IGF1R	3480	broad.mit.edu	37	15	99472878	99472878	+	Missense_Mutation	SNP	C	C	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr15:99472878C>A	ENST00000268035.6	+	14	3485	c.2874C>A	c.(2872-2874)ttC>ttA	p.F958L	IGF1R_ENST00000558762.1_Missense_Mutation_p.F957L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	958					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.F958L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGTACGTCTTCCATAGAAAGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	15											185	161	169					15																	99472878		2197	4297	6494	97290401	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2874C>A	15.37:g.99472878C>A	ENSP00000268035:p.Phe958Leu		97290401	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963778	0.53507	.	.	ENSG00000140443	ENST00000268035	T	0.74947	-0.89	5.67	3.75	0.43078	.	0.211795	0.32578	N	0.005905	T	0.58538	0.2129	L	0.38531	1.155	0.38780	D	0.954752	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.56056	-0.8042	10	0.37606	T	0.19	.	3.5232	0.07750	0.0:0.5388:0.2296:0.2316	.	957;958	C9J5X1;P08069	.;IGF1R_HUMAN	L	958	ENSP00000268035:F958L	ENSP00000268035:F958L	F	+	3	2	IGF1R	97290401	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.218000	0.32467	1.345000	0.45676	0.655000	0.94253	TTC		0.438	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		A	99472878	C	A	99472878	3	1	161	1	0	0	0	0	1	0	0	0	7571	854	30	3	2928	3	IGF1R	15	99472878	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08	40089552	99472878	3058514	53	9028											
XPO6	23214	broad.mit.edu	37	16	28115942	28115942	+	Silent	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr16:28115942G>A	ENST00000304658.5	-	21	3371	c.2871C>T	c.(2869-2871)acC>acT	p.T957T	XPO6_ENST00000565698.1_Silent_p.T943T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	957					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGGCCAGCACGGTGGACTTGA	0.592																																																0			16											69	72	71					16																	28115942		2060	4209	6269	28023443	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2871C>T	16.37:g.28115942G>A			28023443	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																				0.592	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		A	28115942	G	A	28115942	2	1	161	1	0	0	0	0	0	0	0	1	17448	1103	39	1		1	XPO6	16	28115942	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08		28115942	62238811	54	9029											
SLC5A2	6524	broad.mit.edu	37	16	31499718	31499718	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr16:31499718G>A	ENST00000330498.3	+	9	1055	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	346					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.V346M(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGTGGCGTGCGTGGTGCCTGA	0.672																																																1	Substitution - Missense(1)	ovary(1)	16											34	35	35					16																	31499718		2196	4299	6495	31407219	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1036G>A	16.37:g.31499718G>A	ENSP00000327943:p.Val346Met		31407219	A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789172	0.70337	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.89123	-2.47;-2.47	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95220	0.8333	10	0.59425	D	0.04	.	15.2095	0.73209	0.0:0.0:1.0:0.0	.	346	P31639	SC5A2_HUMAN	M	346	ENSP00000327943:V346M;ENSP00000410601:V346M	ENSP00000327943:V346M	V	+	1	0	SLC5A2	31407219	1.000000	0.71417	0.993000	0.49108	0.122000	0.20287	9.650000	0.98490	2.453000	0.82957	0.561000	0.74099	GTG		0.672	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			A	31499718	G	A	31499718	3	1	161	1	0	0	0	0	1	0	0	0	14668	1145	40	1	1070	1	SLC5A2	16	31499718	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	3383776	31499718	58855035	55	9030											
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		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"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	17	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	7518284	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.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		7518284	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	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577559	G	A	7577559	3	1	161	1	0	0	0	0	1	0	0	0	16381	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08		7577559	73617651	56	9031											
RAPGEFL1	51195	broad.mit.edu	37	17	38349236	38349236	+	Silent	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr17:38349236G>A	ENST00000456989.2	+	13	1396	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	RAPGEFL1_ENST00000436615.3_Silent_p.E395E|RAPGEFL1_ENST00000264644.6_Silent_p.E395E|RAPGEFL1_ENST00000544503.1_Silent_p.E444E			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	601	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E395E(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGAACATCGAGAAGCTGGTGA	0.517																																					Esophageal Squamous(28;274 750 6870 14218 42203)											1	Substitution - coding silent(1)	ovary(1)	17											138	133	135					17																	38349236		2203	4300	6503	35602762	SO:0001819	synonymous_variant	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.1350G>A	17.37:g.38349236G>A			35602762		Silent	SNP	ENST00000456989.2	37																																																																																					0.517	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		A	38349236	G	A	38349236	2	1	161	1	0	0	0	0	0	0	0	1	13052	933	33	2		2	RAPGEFL1	17	38349236	Silent	SNP	G	TCGA-20-0991-01A-03D-0428-08	30771677	38349236	42845974	57	9032											
TWSG1	57045	broad.mit.edu	37	18	9396353	9396368	+	Frame_Shift_Del	DEL	TCCCTTCTCTCTTCCG	TCCCTTCTCTCTTCCG	-	rs140736771|rs35075982	byFrequency	TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	TCCCTTCTCTCTTCCG	TCCCTTCTCTCTTCCG	-	-	TCCCTTCTCTCTTCCG	TCCCTTCTCTCTTCCG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr18:9396353_9396368delTCCCTTCTCTCTTCCG	ENST00000262120.5	+	4	490_505	c.299_314delTCCCTTCTCTCTTCCG	c.(298-315)atcccttctctcttccggfs	p.IPSLFR100fs	TWSG1_ENST00000581641.1_Frame_Shift_Del_p.IPSLFR100fs	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	100					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R105Q(2)|p.I100fs*10(1)|p.L103I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CATGAACCGATCCCTTCTCTCTTCCGGGCACTCACA	0.431																																																4	Substitution - Missense(3)|Deletion - Frameshift(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	18																																								9386368	SO:0001589	frameshift_variant	57045			AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"twisted gastrulation homolog 1 (Drosophila)"			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.299_314delTCCCTTCTCTCTTCCG	18.37:g.9396353_9396368delTCCCTTCTCTCTTCCG	ENSP00000262120:p.Ile100fs		9386353	B2RE08|D3DUH9|Q8NBI7|Q96K46	Frame_Shift_Del	DEL	ENST00000262120.5	37	CCDS11844.1																																																																																				0.431	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			-	9396368	TCCCTTCTCTCTTCCG	-	9396353	7	5	161	1	0	1	0	1	0	0	0	0	16785	1435	50	0	309	0	TWSG1	18	9396353	Frame_Shift_Del	DEL	TCCCTTCTCTCTTCCG	TCGA-20-0991-01A-03D-0428-08		9396353	68680895	58	9033											
LIPG	9388	broad.mit.edu	37	18	47091836	47091836	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr18:47091836G>A	ENST00000261292.4	+	2	525	c.247G>A	c.(247-249)Gct>Act	p.A83T	LIPG_ENST00000580036.1_Missense_Mutation_p.A83T|LIPG_ENST00000427224.2_Missense_Mutation_p.A83T|LIPG_ENST00000577628.1_Missense_Mutation_p.A119T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	83					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.A83T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CAACATGACAGCTAAAACCTT	0.498																																					Pancreas(126;280 1778 12814 26243 34948)											1	Substitution - Missense(1)	ovary(1)	18											89	85	86					18																	47091836		2203	4300	6503	45345834	SO:0001583	missense	9388			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.247G>A	18.37:g.47091836G>A	ENSP00000261292:p.Ala83Thr		45345834	B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	9.891	1.204219	0.22205	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.90261	-2.64;-2.64	5.1	4.23	0.50019	Lipase, N-terminal (1);	0.158919	0.56097	D	0.000030	D	0.84862	0.5566	N	0.26130	0.795	0.44316	D	0.997198	B;B;B	0.31209	0.313;0.136;0.242	B;B;B	0.36719	0.231;0.231;0.223	T	0.79482	-0.1785	10	0.17369	T	0.5	-21.89	13.4402	0.61108	0.0766:0.0:0.9234:0.0	.	83;83;83	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	T	83	ENSP00000261292:A83T;ENSP00000387978:A83T	ENSP00000261292:A83T	A	+	1	0	LIPG	45345834	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.441000	0.66569	1.170000	0.42753	-0.215000	0.12644	GCT		0.498	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		A	47091836	G	A	47091836	3	1	161	1	0	0	0	0	1	0	0	0	8823	971	34	2	253	2	LIPG	18	47091836	Missense_Mutation	SNP	G	TCGA-20-0991-01A-03D-0428-08	37695483	47091836	30985412	59	9034											
ZNF570	148268	broad.mit.edu	37	19	37976014	37976014	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr19:37976014C>T	ENST00000330173.1	+	5	2019	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	ZNF570_ENST00000388801.3_Missense_Mutation_p.P294L|ZNF570_ENST00000586475.1_Missense_Mutation_p.P553L|CTD-2086O20.3_ENST00000591976.1_lincRNA	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P497L(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAGAGAGACCCTATGAATGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	19											111	114	113					19																	37976014		2203	4300	6503	42667854	SO:0001583	missense	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1490C>T	19.37:g.37976014C>T	ENSP00000331540:p.Pro497Leu		42667854	A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097533	0.56075	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.17054	2.3;2.3	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000910	T	0.42854	0.1221	M	0.78223	2.4	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45086	-0.9285	10	0.87932	D	0	.	14.532	0.67934	0.0:1.0:0.0:0.0	.	294;497	B4DMP1;Q96NI8	.;ZN570_HUMAN	L	497;294	ENSP00000331540:P497L;ENSP00000373453:P294L	ENSP00000331540:P497L	P	+	2	0	ZNF570	42667854	0.985000	0.35326	1.000000	0.80357	0.996000	0.88848	2.814000	0.48010	2.351000	0.79841	0.563000	0.77884	CCC		0.448	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		T	37976014	C	T	37976014	3	4	161	1	0	0	0	0	1	0	0	0	18002	623	22	2	1504	2	ZNF570	19	37976014	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08		37976014	21152969	60	9035											
CYP2A7	1549	broad.mit.edu	37	19	41383249	41383249	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr19:41383249C>G	ENST00000301146.4	-	7	1548	c.1007G>C	c.(1006-1008)gGc>gCc	p.G336A	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.G285A	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	336						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.G336A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCGGTTCTTGCCGATCACTCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	19											94	79	84					19																	41383249		2203	4298	6501	46075089	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1007G>C	19.37:g.41383249C>G	ENSP00000301146:p.Gly336Ala		46075089	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792252	0.50102	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.16457	4.71;2.34	2.18	2.18	0.27775	.	0.131674	0.50627	U	0.000112	T	0.34629	0.0904	M	0.86343	2.81	0.42839	D	0.994047	P;P;B	0.45176	0.553;0.852;0.398	P;P;B	0.50791	0.575;0.65;0.359	T	0.46470	-0.9189	10	0.87932	D	0	.	11.4495	0.50145	0.0:1.0:0.0:0.0	.	336;285;336	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	A	336;285	ENSP00000301146:G336A;ENSP00000291764:G285A	ENSP00000291764:G285A	G	-	2	0	CYP2A7	46075089	0.998000	0.40836	0.117000	0.21633	0.656000	0.38851	5.118000	0.64673	1.215000	0.43411	0.184000	0.17185	GGC		0.522	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		G	41383249	C	G	41383249	3	3	161	1	0	0	0	0	1	0	0	0	4163	739	26	3	489	3	CYP2A7	19	41383249	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08	3407235	41383249	17745734	61	9036											
ZC3H4	23211	broad.mit.edu	37	19	47570553	47570553	+	Missense_Mutation	SNP	T	T	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr19:47570553T>C	ENST00000253048.5	-	15	3009	c.2972A>G	c.(2971-2973)aAg>aGg	p.K991R	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	991							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K991R(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGCGTCCTGCTTGGGGATGGG	0.701																																																1	Substitution - Missense(1)	ovary(1)	19											45	53	51					19																	47570553		2056	4179	6235	52262393	SO:0001583	missense	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2972A>G	19.37:g.47570553T>C	ENSP00000253048:p.Lys991Arg		52262393	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707165	0.68615	.	.	ENSG00000130749	ENST00000253048	T	0.56941	0.43	5.02	5.02	0.67125	.	0.121948	0.53938	D	0.000049	T	0.69726	0.3143	M	0.67397	2.05	0.49483	D	0.999797	D	0.71674	0.998	D	0.77004	0.989	T	0.73379	-0.4001	10	0.72032	D	0.01	.	14.0115	0.64500	0.0:0.0:0.0:1.0	.	991	Q9UPT8	ZC3H4_HUMAN	R	991	ENSP00000253048:K991R	ENSP00000253048:K991R	K	-	2	0	ZC3H4	52262393	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.384000	0.79751	2.017000	0.59298	0.460000	0.39030	AAG		0.701	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			C	47570553	T	C	47570553	3	2	161	1	0	0	0	0	1	0	0	0	17570	1609	56	4	943	4	ZC3H4	19	47570553	Missense_Mutation	SNP	T	TCGA-20-0991-01A-03D-0428-08	6187304	47570553	11558430	62	9037											
ZNF547	284306	broad.mit.edu	37	19	57889170	57889170	+	Missense_Mutation	SNP	T	T	G			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr19:57889170T>G	ENST00000282282.3	+	4	976	c.826T>G	c.(826-828)Ttc>Gtc	p.F276V	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F276V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTGGGAAGTTCTTTAAGTG	0.408																																																1	Substitution - Missense(1)	ovary(1)	19											130	121	124					19																	57889170		2203	4300	6503	62580982	SO:0001583	missense	284306			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.826T>G	19.37:g.57889170T>G	ENSP00000282282:p.Phe276Val		62580982	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399399	0.42512	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.16743	2.32	1.87	0.773	0.18516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.02111	-0.68	0.09310	N	1	B;B;B	0.25441	0.009;0.007;0.126	B;B;B	0.26094	0.006;0.003;0.066	T	0.42799	-0.9430	9	0.24483	T	0.36	.	7.3136	0.26488	0.0:0.0:0.2683:0.7317	.	276;276;276	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	V	276	ENSP00000282282:F276V	ENSP00000282282:F276V	F	+	1	0	ZNF547	62580982	0.000000	0.05858	0.002000	0.10522	0.940000	0.58332	-0.607000	0.05648	0.204000	0.20548	0.402000	0.26972	TTC		0.408	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		G	57889170	T	G	57889170	3	3	161	1	0	0	0	0	1	0	0	0	17979	1725	60	5	836	5	ZNF547	19	57889170	Missense_Mutation	SNP	T	TCGA-20-0991-01A-03D-0428-08	10318617	57889170	1239813	63	9038											
PLCB4	5332	broad.mit.edu	37	20	9346157	9346157	+	Silent	SNP	A	A	C			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr20:9346157A>C	ENST00000378493.1	+	6	514	c.499A>C	c.(499-501)Agg>Cgg	p.R167R	PLCB4_ENST00000378473.3_Silent_p.R167R|PLCB4_ENST00000334005.3_Silent_p.R167R|PLCB4_ENST00000378501.2_Silent_p.R167R|PLCB4_ENST00000278655.4_Silent_p.R167R|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.R167R			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	167					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R167R(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATTCCAGTTAGGAGGTAAGT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	20											126	113	118					20																	9346157		2203	4300	6503	9294157	SO:0001819	synonymous_variant	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.499A>C	20.37:g.9346157A>C			9294157	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	CCDS13105.1																																																																																				0.408	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			C	9346157	A	C	9346157	2	2	161	1	0	0	0	0	0	0	0	1	12030	411	15	5		5	PLCB4	20	9346157	Silent	SNP	A	TCGA-20-0991-01A-03D-0428-08		9346157	53679363	64	9039											
JAG1	182	broad.mit.edu	37	20	10622147	10622147	+	Silent	SNP	C	C	T	rs142085300		TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr20:10622147C>T	ENST00000254958.5	-	23	3392	c.2877G>A	c.(2875-2877)gcG>gcA	p.A959A	JAG1_ENST00000423891.2_Silent_p.A800A	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	959					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.A959A(1)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATGTGATGTTCGCACAGTTAT	0.463									Alagille Syndrome																																							1	Substitution - coding silent(1)	ovary(1)	20						C		0,4406		0,0,2203	151	147	148		2877	-11.6	0.7	20	dbSNP_134	148	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	JAG1	NM_000214.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		959/1219	10622147	2,13004	2203	4300	6503	10570147	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2877G>A	20.37:g.10622147C>T			10570147	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																				0.463	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		T	10622147	C	T	10622147	2	4	161	1	0	0	0	0	0	0	0	1	7934	871	31	1		1	JAG1	20	10622147	Silent	SNP	C	TCGA-20-0991-01A-03D-0428-08	1275990	10622147	52403373	65	9040											
PCSK2	5126	broad.mit.edu	37	20	17434520	17434520	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chr20:17434520C>T	ENST00000262545.2	+	9	1334	c.1019C>T	c.(1018-1020)aCt>aTt	p.T340I	PCSK2_ENST00000377899.1_Missense_Mutation_p.T321I|PCSK2_ENST00000536609.1_Missense_Mutation_p.T305I	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	340	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.T340I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GACGGCAGGACTGCCCTGTAC	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											152	113	126					20																	17434520		2203	4300	6503	17382520	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1019C>T	20.37:g.17434520C>T	ENSP00000262545:p.Thr340Ile		17382520	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892908	0.72524	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.86694	-2.16;-2.16;-2.16	5.69	5.69	0.88448	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	L	0.32530	0.975	0.80722	D	1	D;B	0.76494	0.999;0.236	D;B	0.77557	0.99;0.115	D	0.91210	0.4998	10	0.72032	D	0.01	-25.2548	18.389	0.90475	0.0:1.0:0.0:0.0	.	305;340	B4DFQ3;P16519	.;NEC2_HUMAN	I	321;340;305	ENSP00000367131:T321I;ENSP00000262545:T340I;ENSP00000437458:T305I	ENSP00000262545:T340I	T	+	2	0	PCSK2	17382520	1.000000	0.71417	0.960000	0.40013	0.297000	0.27493	7.813000	0.86123	2.692000	0.91855	0.655000	0.94253	ACT		0.622	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17434520	C	T	17434520	3	4	161	1	0	0	0	0	1	0	0	0	11601	565	20	2	1053	2	PCSK2	20	17434520	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08	6812373	17434520	45591000	66	9041											
CCNB3	85417	broad.mit.edu	37	X	50052251	50052251	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0991-01A-03D-0428-08	TCGA-20-0991-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8ea6ecec-3854-452a-822e-d547aca9bb6f	8eaf3609-4474-4ef6-8304-45430f88c639	g.chrX:50052251C>T	ENST00000376042.1	+	6	1380	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S361F|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	361					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.S361F(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAAGAGGATTCCCTTGTTAAG	0.443																																																2	Substitution - Missense(2)	ovary(2)	X											89	77	81					X																	50052251		2203	4300	6503	50068991	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1082C>T	X.37:g.50052251C>T	ENSP00000365210:p.Ser361Phe		50068991	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019130	0.35606	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.39229	1.09;1.09	3.56	-5.02	0.02982	.	101.725000	0.00166	N	0.000000	T	0.27524	0.0676	L	0.32530	0.975	0.09310	N	1	P	0.38129	0.619	B	0.32211	0.142	T	0.19321	-1.0309	9	.	.	.	.	7.4403	0.27179	0.6259:0.2791:0.0:0.0949	.	361	Q8WWL7	CCNB3_HUMAN	F	361	ENSP00000365210:S361F;ENSP00000276014:S361F	.	S	+	2	0	CCNB3	50068991	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.363000	0.02592	-1.392000	0.02082	-0.390000	0.06520	TCC		0.443	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			T	50052251	C	T	50052251	3	4	161	1	0	0	0	0	1	0	0	0	2914	855	30	2	1096	2	CCNB3	23	50052251	Missense_Mutation	SNP	C	TCGA-20-0991-01A-03D-0428-08		50052251	105218309	67	9042											
C1orf216	127703	genome.wustl.edu	37	1	36181412	36181412	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr1:36181412G>A	ENST00000270815.4	-	2	1281	c.511C>T	c.(511-513)Cac>Tac	p.H171Y	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	171										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				ATCACCAAGTGCACGTGGTGC	0.607											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											181	171	174					1																	36181412		2203	4300	6503	35953999	SO:0001583	missense	127703			AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.511C>T	1.37:g.36181412G>A	ENSP00000425166:p.His171Tyr	861	35953999	D3DPS1|Q8N8N6	Missense_Mutation	SNP	ENST00000270815.4	37	CCDS395.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182135	0.94885	.	.	ENSG00000142686	ENST00000270815;ENST00000422623	.	.	.	4.79	4.79	0.61399	.	0.063678	0.64402	D	0.000006	T	0.73009	0.3532	L	0.50333	1.59	0.46874	D	0.999237	D	0.62365	0.991	P	0.61477	0.889	T	0.76091	-0.3086	9	0.72032	D	0.01	-20.4184	18.0332	0.89291	0.0:0.0:1.0:0.0	.	171	Q8TAB5	CA216_HUMAN	Y	171;141	.	ENSP00000425166:H171Y	H	-	1	0	C1orf216	35953999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.713000	0.91408	2.486000	0.83907	0.561000	0.74099	CAC		0.607	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		A	36181412	G	A	36181412	3	1	162	1	0	0	0	0	1	0	0	0	2031	1319	46	2	182	2	C1orf216	1	36181412	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		36181412	213069209	1	9043											
WNT2B	7482	genome.wustl.edu	37	1	113059953	113059953	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr1:113059953G>A	ENST00000369684.4	+	4	1377	c.892G>A	c.(892-894)Gat>Aat	p.D298N	WNT2B_ENST00000369686.5_Missense_Mutation_p.D279N|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000256640.5_Missense_Mutation_p.D206N	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	298					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCCGGACTGATCTTGTCTA	0.577																																																0			1											55	52	53					1																	113059953		2203	4300	6503	112861476	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.892G>A	1.37:g.113059953G>A	ENSP00000358698:p.Asp298Asn		112861476	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565223	0.96527	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.78126	-1.15;-1.15;-1.15	5.53	5.53	0.82687	.	0.086238	0.85682	D	0.000000	D	0.89462	0.6722	M	0.90977	3.165	0.80722	D	1	D;D	0.67145	0.996;0.986	D;D	0.66979	0.948;0.913	D	0.91317	0.5079	10	0.87932	D	0	.	19.0601	0.93090	0.0:0.0:1.0:0.0	.	298;279	Q93097;Q93097-2	WNT2B_HUMAN;.	N	206;279;298	ENSP00000256640:D206N;ENSP00000358700:D279N;ENSP00000358698:D298N	ENSP00000256640:D206N	D	+	1	0	WNT2B	112861476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.599000	0.87857	0.555000	0.69702	GAT		0.577	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		A	113059953	G	A	113059953	3	1	162	1	0	0	0	0	1	0	0	0	17387	1290	45	2	1039	2	WNT2B	1	113059953	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	76878541	113059953	136190668	2	9044											
MAGI3	260425	genome.wustl.edu	37	1	114223893	114223893	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr1:114223893T>C	ENST00000307546.9	+	20	3338	c.3263T>C	c.(3262-3264)aTt>aCt	p.I1088T	MAGI3_ENST00000369617.4_Missense_Mutation_p.I1113T|MAGI3_ENST00000369615.1_Missense_Mutation_p.I1088T|MAGI3_ENST00000369611.4_Missense_Mutation_p.I1088T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1113	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGAGCTCATTCAGGCTGGT	0.433																																																0			1											171	156	161					1																	114223893		2203	4300	6503	114025416	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3263T>C	1.37:g.114223893T>C	ENSP00000304604:p.Ile1088Thr		114025416	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756946	0.89843	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.79167	-0.1915	10	0.87932	D	0	-8.8806	16.1806	0.81895	0.0:0.0:0.0:1.0	.	1088;1088;1113	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	1113;1088;1088;1088;128	ENSP00000358630:I1113T;ENSP00000304604:I1088T;ENSP00000358628:I1088T;ENSP00000358624:I1088T	ENSP00000304604:I1088T	I	+	2	0	MAGI3	114025416	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.040000	0.89188	2.221000	0.72209	0.528000	0.53228	ATT		0.433	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		C	114223893	T	C	114223893	3	2	162	1	0	0	0	0	1	0	0	0	9192	1493	52	4	3341	4	MAGI3	1	114223893	Missense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09	1163940	114223893	135026728	3	9045											
HIST2H2AC	8338	genome.wustl.edu	37	1	149858790	149858790	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr1:149858790G>C	ENST00000331380.2	+	1	266	c.266G>C	c.(265-267)cGc>cCc	p.R89P	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	89						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTGGCCATCCGCAACGACGAG	0.597																																																0			1											64	65	65					1																	149858790		2203	4296	6499	148125414	SO:0001583	missense	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.266G>C	1.37:g.149858790G>C	ENSP00000332194:p.Arg89Pro		148125414	Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445509	0.25987	.	.	ENSG00000184260	ENST00000331380	T	0.75589	-0.95	5.56	2.62	0.31277	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.45361	D	0.000374	D	0.87819	0.6273	H	0.99169	4.455	0.44221	D	0.997056	D	0.89917	1.0	D	0.83275	0.996	D	0.86056	0.1529	10	0.87932	D	0	.	6.3766	0.21511	0.0727:0.1322:0.6579:0.1372	.	89	Q16777	H2A2C_HUMAN	P	89	ENSP00000332194:R89P	ENSP00000332194:R89P	R	+	2	0	HIST2H2AC	148125414	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	7.829000	0.86735	0.291000	0.22468	-0.175000	0.13238	CGC		0.597	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		C	149858790	G	C	149858790	3	2	162	1	0	0	0	0	1	0	0	0	7178	1087	38	3	268	3	HIST2H2AC	1	149858790	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	35634897	149858790	99391831	4	9046											
C1orf125	126859	genome.wustl.edu	37	1	179364254	179364261	+	Frame_Shift_Del	DEL	ACATGATG	ACATGATG	-	rs147693539	byFrequency	TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	ACATGATG	ACATGATG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr1:179364254_179364261delACATGATG	ENST00000367618.3	+	11	1413_1420	c.1026_1033delACATGATG	c.(1024-1035)gcacatgatgtgfs	p.HDV343fs	AXDND1_ENST00000457238.2_Frame_Shift_Del_p.HDV343fs|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	343										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TAGTTCGGGCACATGATGTGAAATTAAC	0.332																																																0			1																																								177630884	SO:0001589	frameshift_variant	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1026_1033delACATGATG	1.37:g.179364254_179364261delACATGATG	ENSP00000356590:p.His343fs		177630877	Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																				0.332	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		-	179364261	ACATGATG	-	179364254	7	5	162	1	0	1	0	1	0	0	0	0	1993	146	6	0	1064	0	C1orf125	1	179364254	Frame_Shift_Del	DEL	ACATGATG	TCGA-20-1682-01A-01W-0633-09	29505464	179364254	69886367	5	9047											
CEP350	9857	genome.wustl.edu	37	1	180047655	180047655	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr1:180047655G>C	ENST00000367607.3	+	29	6243	c.5825G>C	c.(5824-5826)aGc>aCc	p.S1942T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1942					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACAGTGAAAGCTCCATTCCA	0.418																																																0			1											64	61	62					1																	180047655		2203	4300	6503	178314278	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5825G>C	1.37:g.180047655G>C	ENSP00000356579:p.Ser1942Thr		178314278	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.64|18.64	3.667376|3.667376	0.67814|0.67814	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607	.|T	.|0.55234	.|0.53	5.31|5.31	4.4|4.4	0.53042|0.53042	.|.	.|0.000000	.|0.53938	.|D	.|0.000045	T|T	0.45577|0.45577	0.1349|0.1349	M|M	0.65975|0.65975	2.015|2.015	0.35699|0.35699	D|D	0.815439|0.815439	.|P;P	.|0.39665	.|0.682;0.561	.|B;B	.|0.28991	.|0.097;0.086	T|T	0.59134|0.59134	-0.7511|-0.7511	5|9	.|.	.|.	.|.	.|.	12.5868|12.5868	0.56423|0.56423	0.0776:0.0:0.9224:0.0|0.0776:0.0:0.9224:0.0	.|.	.|1942;1942	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	N|T	116|1942	.|ENSP00000356579:S1942T	.|.	K|S	+|+	3|2	2|0	CEP350|CEP350	178314278|178314278	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.975000|0.975000	0.68041|0.68041	4.509000|4.509000	0.60448|0.60448	1.377000|1.377000	0.46286|0.46286	0.591000|0.591000	0.81541|0.81541	AAG|AGC		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		C	180047655	G	C	180047655	3	2	162	1	0	0	0	0	1	0	0	0	3254	971	34	3	5935	3	CEP350	1	180047655	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	683401	180047655	69202966	6	9048											
RNPEP	6051	genome.wustl.edu	37	1	201970792	201970792	+	Nonsense_Mutation	SNP	T	T	A	rs544887005		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr1:201970792T>A	ENST00000295640.4	+	8	1366	c.1323T>A	c.(1321-1323)taT>taA	p.Y441*	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RP11-465N4.4_ENST00000415582.1_RNA|RNPEP_ENST00000367286.3_Nonsense_Mutation_p.Y402*	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	441					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CACAGGCCTATGTGCATGAAT	0.488																																					GBM(19;39 479 7473 13131 19462)											0			1											130	127	128					1																	201970792		2203	4300	6503	200237415	SO:0001587	stop_gained	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1323T>A	1.37:g.201970792T>A	ENSP00000295640:p.Tyr441*		200237415	Q9BVM9|Q9H1D4|Q9NPT7	Nonsense_Mutation	SNP	ENST00000295640.4	37	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421821	0.43020	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312;ENST00000449524	.	.	.	5.71	-0.6	0.11642	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6598	9.7115	0.40247	0.0:0.4105:0.0:0.5895	.	.	.	.	X	441;402;310;149	.	ENSP00000295640:Y441X	Y	+	3	2	RNPEP	200237415	0.989000	0.36119	0.749000	0.31150	0.289000	0.27227	0.064000	0.14437	-0.351000	0.08249	0.459000	0.35465	TAT		0.488	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		A	201970792	T	A	201970792	4	1	162	1	0	0	0	0	0	1	0	0	13512	1471	51	5	1353	5	RNPEP	1	201970792	Nonsense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09	21923137	201970792	47279829	7	9049											
ACVR2A	92	genome.wustl.edu	37	2	148677893	148677893	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr2:148677893G>A	ENST00000241416.7	+	8	1693	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	ACVR2A_ENST00000535787.1_Missense_Mutation_p.A245T|ACVR2A_ENST00000404590.1_Missense_Mutation_p.A353T	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGGCAAGTCTGCAGGCGATAC	0.383																																																0			2											87	89	89					2																	148677893		2203	4300	6503	148394363	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1057G>A	2.37:g.148677893G>A	ENSP00000241416:p.Ala353Thr		148394363	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039512	0.55003	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.65732	-0.17;-0.17;-0.17	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38188	0.1031	N	0.02345	-0.59	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.26849	-1.0091	10	0.34782	T	0.22	.	15.113	0.72375	0.0:0.1411:0.8589:0.0	.	353	P27037	AVR2A_HUMAN	T	353;245;353	ENSP00000241416:A353T;ENSP00000439988:A245T;ENSP00000384338:A353T	ENSP00000241416:A353T	A	+	1	0	ACVR2A	148394363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.587000	0.67510	2.699000	0.92147	0.655000	0.94253	GCA		0.383	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		A	148677893	G	A	148677893	3	1	162	1	0	0	0	0	1	0	0	0	223	1319	46	2	1087	2	ACVR2A	2	148677893	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		148677893	94521480	8	9050											
RAPH1	65059	genome.wustl.edu	37	2	204354715	204354715	+	Missense_Mutation	SNP	A	A	C	rs371363652		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr2:204354715A>C	ENST00000319170.5	-	4	623	c.324T>G	c.(322-324)agT>agG	p.S108R	RAPH1_ENST00000457812.1_Missense_Mutation_p.S108R|RAPH1_ENST00000423104.1_Missense_Mutation_p.S108R|RAPH1_ENST00000308091.4_Missense_Mutation_p.S108R|RAPH1_ENST00000374493.3_Missense_Mutation_p.S108R|RAPH1_ENST00000374488.2_Missense_Mutation_p.S108R|RAPH1_ENST00000418114.1_Missense_Mutation_p.S108R|RAPH1_ENST00000439222.1_Missense_Mutation_p.S108R|RAPH1_ENST00000374489.2_Missense_Mutation_p.S108R|RAPH1_ENST00000419464.1_Missense_Mutation_p.S108R|RAPH1_ENST00000453034.1_Missense_Mutation_p.S108R	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	108					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTGACGCTTACTGTTTCCTG	0.438																																																0			2						A	ARG/SER,ARG/SER	0,4406		0,0,2203	201	196	198		324,324	4.6	1	2		198	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAPH1	NM_203365.2,NM_213589.1	110,110	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	108/645,108/1251	204354715	1,13005	2203	4300	6503	204062960	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.324T>G	2.37:g.204354715A>C	ENSP00000316543:p.Ser108Arg		204062960	Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.650387	0.67472	0.0	1.16E-4	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637	T;T;T;T;T;T;T;T;T;T;T	0.55052	0.7;0.7;0.54;0.7;0.73;0.57;0.73;0.7;0.7;0.56;0.7	5.78	4.62	0.57501	.	0.105490	0.42821	D	0.000649	T	0.47507	0.1449	L	0.38175	1.15	0.35843	D	0.826212	P;B;P	0.46987	0.888;0.079;0.779	P;B;B	0.50270	0.636;0.029;0.235	T	0.51164	-0.8740	10	0.15952	T	0.53	-7.8891	8.8704	0.35311	0.8563:0.0:0.1437:0.0	.	108;108;108	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	R	108	ENSP00000392854:S108R;ENSP00000316543:S108R;ENSP00000363617:S108R;ENSP00000363613:S108R;ENSP00000363612:S108R;ENSP00000311293:S108R;ENSP00000411138:S108R;ENSP00000390578:S108R;ENSP00000397751:S108R;ENSP00000406662:S108R;ENSP00000396711:S108R	ENSP00000311293:S108R	S	-	3	2	RAPH1	204062960	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.978000	0.56881	1.002000	0.39104	0.528000	0.53228	AGT		0.438	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		C	204354715	A	C	204354715	3	2	162	1	0	0	0	0	1	0	0	0	13053	388	14	5	3643	5	RAPH1	2	204354715	Missense_Mutation	SNP	A	TCGA-20-1682-01A-01W-0633-09	55676822	204354715	38844658	9	9051											
ZDBF2	57683	genome.wustl.edu	37	2	207173340	207173340	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr2:207173340G>T	ENST00000374423.3	+	5	4474	c.4088G>T	c.(4087-4089)aGt>aTt	p.S1363I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1363							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATTCTTATAGTCCTGAAGAA	0.373																																																0			2											56	55	55					2																	207173340		1856	4108	5964	206881585	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4088G>T	2.37:g.207173340G>T	ENSP00000363545:p.Ser1363Ile		206881585	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700625	0.30142	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	3.68	-1.23	0.09465	.	.	.	.	.	T	0.23249	0.0562	N	0.22421	0.69	0.09310	N	1	P	0.45126	0.851	B	0.35182	0.197	T	0.18587	-1.0332	9	0.72032	D	0.01	.	0.645	0.00816	0.1973:0.1599:0.315:0.3278	.	1363	Q9HCK1	ZDBF2_HUMAN	I	1363	ENSP00000363545:S1363I	ENSP00000363545:S1363I	S	+	2	0	ZDBF2	206881585	0.000000	0.05858	0.017000	0.16124	0.001000	0.01503	-0.720000	0.04969	-0.272000	0.09259	-1.877000	0.00547	AGT		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		T	207173340	G	T	207173340	3	4	162	1	0	0	0	0	1	0	0	0	17599	1029	36	3	4098	3	ZDBF2	2	207173340	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	2818625	207173340	36026033	10	9052											
CPO	130749	genome.wustl.edu	37	2	207827210	207827210	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr2:207827210G>C	ENST00000272852.3	+	7	695	c.649G>C	c.(649-651)Gct>Cct	p.A217P		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	217						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AGAGACTAAAGCTGTTGCCAG	0.448																																																0			2											202	193	196					2																	207827210		2203	4300	6503	207535455	SO:0001583	missense	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.649G>C	2.37:g.207827210G>C	ENSP00000272852:p.Ala217Pro		207535455	Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397088	0.62177	.	.	ENSG00000144410	ENST00000272852	T	0.17528	2.27	5.5	3.66	0.41972	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	H	0.97214	3.96	0.39431	D	0.967071	D	0.89917	1.0	D	0.97110	1.0	T	0.63056	-0.6722	10	0.72032	D	0.01	.	8.4376	0.32797	0.0812:0.0:0.7605:0.1583	.	217	Q8IVL8	CBPO_HUMAN	P	217	ENSP00000272852:A217P	ENSP00000272852:A217P	A	+	1	0	CPO	207535455	0.858000	0.29795	0.051000	0.19133	0.651000	0.38670	3.346000	0.52190	0.838000	0.34948	0.555000	0.69702	GCT		0.448	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		C	207827210	G	C	207827210	3	2	162	1	0	0	0	0	1	0	0	0	3820	971	34	3	675	3	CPO	2	207827210	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	653870	207827210	35372163	11	9053											
SLC25A38	54977	genome.wustl.edu	37	3	39425255	39425255	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr3:39425255G>A	ENST00000273158.4	+	1	417	c.40G>A	c.(40-42)Gat>Aat	p.D14N		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAACCCCAAGATGTCGGAGA	0.662																																																0			3											52	48	49					3																	39425255		2203	4300	6503	39400259	SO:0001583	missense	54977			BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"Solute carriers"	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.40G>A	3.37:g.39425255G>A	ENSP00000273158:p.Asp14Asn		39400259		Missense_Mutation	SNP	ENST00000273158.4	37	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.321960	0.81580	.	.	ENSG00000144659	ENST00000273158	T	0.80123	-1.34	4.25	4.25	0.50352	.	0.536026	0.19092	N	0.122922	T	0.67618	0.2912	N	0.22421	0.69	0.29934	N	0.821688	P	0.39665	0.682	B	0.35550	0.205	T	0.71006	-0.4717	10	0.66056	D	0.02	-10.9975	12.0051	0.53255	0.0:0.0:1.0:0.0	.	14	Q96DW6	S2538_HUMAN	N	14	ENSP00000273158:D14N	ENSP00000273158:D14N	D	+	1	0	SLC25A38	39400259	0.999000	0.42202	0.986000	0.45419	0.978000	0.69477	4.326000	0.59241	2.189000	0.69895	0.655000	0.94253	GAT		0.662	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		A	39425255	G	A	39425255	3	1	162	1	0	0	0	0	1	0	0	0	14505	942	33	2	42	2	SLC25A38	3	39425255	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		39425255	158597175	12	9054											
ST6GAL1	6480	genome.wustl.edu	37	3	186760530	186760530	+	Silent	SNP	C	C	T	rs368957799		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr3:186760530C>T	ENST00000169298.3	+	4	713	c.39C>T	c.(37-39)tgC>tgT	p.C13C	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.C13C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	13					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TCAGCTGCTGCGTCCTGGTCT	0.408																																																0			3						C	,,	0,4406		0,0,2203	164	160	162		39,39,	-8.4	0	3		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	ST6GAL1	NM_003032.2,NM_173216.2,NM_173217.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	13/407,13/407,	186760530	1,13005	2203	4300	6503	188243224	SO:0001819	synonymous_variant	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.39C>T	3.37:g.186760530C>T			188243224	A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	CCDS3285.1																																																																																				0.408	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		T	186760530	C	T	186760530	2	4	162	1	0	0	0	0	0	0	0	1	15223	776	27	1		1	ST6GAL1	3	186760530	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09	147335275	186760530	11261900	13	9055											
ANKRD17	26057	genome.wustl.edu	37	4	73968168	73968168	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr4:73968168C>G	ENST00000358602.4	-	25	4614	c.4498G>C	c.(4498-4500)Gaa>Caa	p.E1500Q	ANKRD17_ENST00000509867.2_Missense_Mutation_p.E1387Q|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1249Q	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1500					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCAATTTCTTCTAGTTTCctt	0.368																																																0			4											183	180	181					4																	73968168		2203	4300	6503	74187032	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4498G>C	4.37:g.73968168C>G	ENSP00000351416:p.Glu1500Gln		74187032	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930455	0.92389	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.67523	1.5;-0.26;-0.27	5.69	5.69	0.88448	.	0.168935	0.39759	N	0.001279	T	0.73179	0.3554	N	0.24115	0.695	0.47819	D	0.99952	D;D;D;D	0.67145	0.996;0.996;0.993;0.993	D;D;D;D	0.78314	0.991;0.991;0.979;0.968	T	0.76321	-0.3002	10	0.72032	D	0.01	.	18.3883	0.90473	0.0:1.0:0.0:0.0	.	1499;1249;1500;1387	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	Q	1500;1249;1387	ENSP00000351416:E1500Q;ENSP00000332265:E1249Q;ENSP00000427151:E1387Q	ENSP00000332265:E1249Q	E	-	1	0	ANKRD17	74187032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.999000	0.70665	2.682000	0.91365	0.585000	0.79938	GAA		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		G	73968168	C	G	73968168	3	3	162	1	0	0	0	0	1	0	0	0	646	922	32	3	3353	3	ANKRD17	4	73968168	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09		73968168	117186108	14	9056											
FAT4	79633	genome.wustl.edu	37	4	126372377	126372377	+	Silent	SNP	C	C	T	rs267600014		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr4:126372377C>T	ENST00000394329.3	+	9	10219	c.10206C>T	c.(10204-10206)ccC>ccT	p.P3402P	FAT4_ENST00000335110.5_Silent_p.P1700P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3402	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGACCCACCCATTTTTACTC	0.453																																																0			4											182	174	177					4																	126372377		2203	4300	6503	126591827	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10206C>T	4.37:g.126372377C>T			126591827	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126372377	C	T	126372377	2	4	162	1	0	0	0	0	0	0	0	1	5692	581	21	2		2	FAT4	4	126372377	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09	52404209	126372377	64781899	15	9057											
NIPBL	25836	genome.wustl.edu	37	5	37003377	37003377	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr5:37003377A>C	ENST00000282516.8	+	16	4282	c.3783A>C	c.(3781-3783)aaA>aaC	p.K1261N	NIPBL_ENST00000448238.2_Missense_Mutation_p.K1261N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1261					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAACTGACAAAACTGTGAAAG	0.279																																																0			5											81	93	89					5																	37003377		2201	4288	6489	37039134	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3783A>C	5.37:g.37003377A>C	ENSP00000282516:p.Lys1261Asn		37039134	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300269	0.81136	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.56611	0.45;0.45	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72338	0.93;0.977	T	0.67098	-0.5756	10	0.34782	T	0.22	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	1261;1261	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	1261	ENSP00000282516:K1261N;ENSP00000406266:K1261N	ENSP00000282516:K1261N	K	+	3	2	NIPBL	37039134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.723000	0.54955	2.289000	0.77006	0.482000	0.46254	AAA		0.279	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		C	37003377	A	C	37003377	3	2	162	1	0	0	0	0	1	0	0	0	10428	11	1	5	3841	5	NIPBL	5	37003377	Missense_Mutation	SNP	A	TCGA-20-1682-01A-01W-0633-09		37003377	143911883	16	9058											
TTC33	23548	genome.wustl.edu	37	5	40716469	40716469	+	Silent	SNP	T	T	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr5:40716469T>C	ENST00000337702.4	-	5	719	c.567A>G	c.(565-567)gcA>gcG	p.A189A	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	189										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTTCAGCTGGTGCTTCACTTT	0.423																																																0			5											151	137	142					5																	40716469		2203	4300	6503	40752226	SO:0001819	synonymous_variant	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"Tetratricopeptide (TTC) repeat domain containing"	29959	protein-coding gene	gene with protein product	"osmosis responsive factor"					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.567A>G	5.37:g.40716469T>C			40752226	B2R6G0|O95105	Silent	SNP	ENST00000337702.4	37	CCDS3931.1																																																																																				0.423	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		C	40716469	T	C	40716469	2	2	162	1	0	0	0	0	0	0	0	1	16702	1683	59	4		4	TTC33	5	40716469	Silent	SNP	T	TCGA-20-1682-01A-01W-0633-09	3713092	40716469	140198791	17	9059											
PCDHGA8	9708	genome.wustl.edu	37	5	140774533	140774533	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr5:140774533G>A	ENST00000398604.2	+	1	2153	c.2153G>A	c.(2152-2154)cGc>cAc	p.R718H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	718					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTGAGGCGCTGGCACAAG	0.582																																																0			5											43	48	46					5																	140774533		2191	4295	6486	140754717	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2153G>A	5.37:g.140774533G>A	ENSP00000381605:p.Arg718His		140754717	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	12.77	2.036893	0.35893	.	.	ENSG00000253767	ENST00000398604	T	0.21734	1.99	4.5	2.55	0.30701	.	0.639648	0.09089	U	0.850182	T	0.19685	0.0473	L	0.58669	1.825	0.09310	N	0.999997	B;B	0.31040	0.107;0.305	B;B	0.25614	0.028;0.062	T	0.18745	-1.0327	10	0.40728	T	0.16	.	6.6776	0.23103	0.3522:0.0:0.6478:0.0	.	718;718	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	H	718	ENSP00000381605:R718H	ENSP00000381605:R718H	R	+	2	0	PCDHGA8	140754717	0.004000	0.15560	0.883000	0.34634	0.701000	0.40568	1.440000	0.35024	1.133000	0.42147	0.655000	0.94253	CGC		0.582	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		A	140774533	G	A	140774533	3	1	162	1	0	0	0	0	1	0	0	0	11560	1087	38	1	2155	1	PCDHGA8	5	140774533	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	100058064	140774533	40140727	18	9060											
ZNF76	7629	genome.wustl.edu	37	6	35259447	35259447	+	Silent	SNP	G	G	A	rs377634955		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr6:35259447G>A	ENST00000373953.3	+	9	1130	c.864G>A	c.(862-864)ccG>ccA	p.P288P	ZNF76_ENST00000339411.5_Silent_p.P288P|ZNF76_ENST00000440666.2_Silent_p.P262P	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	288					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ACACCTGCCCGGAGCCCCACT	0.617																																					Esophageal Squamous(52;92 1039 20612 23956 34676)											0			6						G		0,4406		0,0,2203	58	52	54		864	-7.3	0.6	6		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF76	NM_003427.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		288/571	35259447	1,13005	2203	4300	6503	35367425	SO:0001819	synonymous_variant	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.864G>A	6.37:g.35259447G>A			35367425	Q9BQB2	Silent	SNP	ENST00000373953.3	37	CCDS4801.1																																																																																				0.617	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		A	35259447	G	A	35259447	2	1	162	1	0	0	0	0	0	0	0	1	18135	1103	39	1		1	ZNF76	6	35259447	Silent	SNP	G	TCGA-20-1682-01A-01W-0633-09		35259447	135855620	19	9061											
CHN2	1124	genome.wustl.edu	37	7	29438004	29438004	+	Silent	SNP	C	C	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr7:29438004C>T	ENST00000222792.6	+	5	722	c.192C>T	c.(190-192)atC>atT	p.I64I	CHN2_ENST00000495789.2_Silent_p.I77I|CHN2_ENST00000539406.1_Silent_p.I139I|CHN2_ENST00000435288.2_Silent_p.I64I|CHN2_ENST00000546235.1_Silent_p.I49I|CHN2_ENST00000539389.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	64	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ATGGGATCATCTCTCGGGAGC	0.522																																					Ovarian(1;44 48 13232 18918 31480)											0			7											153	128	136					7																	29438004		2203	4300	6503	29404529	SO:0001819	synonymous_variant	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.192C>T	7.37:g.29438004C>T			29404529	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	CCDS5420.1																																																																																				0.522	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		T	29438004	C	T	29438004	2	4	162	1	0	0	0	0	0	0	0	1	3363	903	32	2		2	CHN2	7	29438004	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09		29438004	129700659	20	9062											
POM121L12	285877	genome.wustl.edu	37	7	53104248	53104248	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr7:53104248G>T	ENST00000408890.4	+	1	900	c.884G>T	c.(883-885)gGc>gTc	p.G295V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	295										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCCCCTTTGGCTCCTAAGAA	0.602																																																0			7											40	44	43					7																	53104248		2008	4170	6178	53071742	SO:0001583	missense	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.884G>T	7.37:g.53104248G>T	ENSP00000386133:p.Gly295Val		53071742	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572171	0.28092	.	.	ENSG00000221900	ENST00000408890	T	0.30448	1.53	1.78	-1.71	0.08133	.	.	.	.	.	T	0.26340	0.0643	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.16689	-1.0394	9	0.87932	D	0	.	4.103	0.10023	0.1745:0.4832:0.3423:0.0	.	295	Q8N7R1	P1L12_HUMAN	V	295	ENSP00000386133:G295V	ENSP00000386133:G295V	G	+	2	0	POM121L12	53071742	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	-0.248000	0.08854	-0.493000	0.06678	0.561000	0.74099	GGC		0.602	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53104248	G	T	53104248	3	4	162	1	0	0	0	0	1	0	0	0	12241	1203	42	3	886	3	POM121L12	7	53104248	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	23666244	53104248	106034415	21	9063											
SAMD9L	219285	genome.wustl.edu	37	7	92762082	92762082	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr7:92762082T>C	ENST00000318238.4	-	5	4419	c.3203A>G	c.(3202-3204)gAa>gGa	p.E1068G	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1068G|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1068G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1068					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAAGACCTTTTCAATGTCTTT	0.388																																																0			7											120	116	117					7																	92762082		2203	4299	6502	92600018	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3203A>G	7.37:g.92762082T>C	ENSP00000326247:p.Glu1068Gly		92600018	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.993715	0.35131	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25912	1.77;1.77;1.77	4.74	4.74	0.60224	.	0.139357	0.47455	D	0.000235	T	0.37046	0.0989	M	0.63843	1.955	0.19575	N	0.999969	D	0.56746	0.977	P	0.50537	0.643	T	0.30268	-0.9984	10	0.87932	D	0	-8.7485	14.0352	0.64640	0.0:0.0:0.0:1.0	.	1068	Q8IVG5	SAM9L_HUMAN	G	1068	ENSP00000326247:E1068G;ENSP00000405760:E1068G;ENSP00000408796:E1068G	ENSP00000326247:E1068G	E	-	2	0	SAMD9L	92600018	0.984000	0.35163	0.074000	0.20217	0.537000	0.34900	2.970000	0.49240	1.983000	0.57843	0.383000	0.25322	GAA		0.388	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		C	92762082	T	C	92762082	3	2	162	1	0	0	0	0	1	0	0	0	13830	1783	62	4	1555	4	SAMD9L	7	92762082	Missense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09	39657834	92762082	66376581	22	9064											
MUC17	140453	genome.wustl.edu	37	7	100686037	100686037	+	Silent	SNP	C	C	T	rs138649661	byFrequency	TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr7:100686037C>T	ENST00000306151.4	+	3	11404	c.11340C>T	c.(11338-11340)taC>taT	p.Y3780Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3780	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATCTGTTTACACCAGCATGT	0.488																																																0			7								1,4405	2.1+/-5.4	0,1,2202	152	145	147		11340	0.8	0	7	dbSNP_134	147	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	MUC17	NM_001040105.1		0,13,6490	TT,TC,CC		0.1395,0.0227,0.1		3780/4494	100686037	13,12993	2203	4300	6503	100472757	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11340C>T	7.37:g.100686037C>T			100472757	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100686037	C	T	100686037	2	4	162	1	0	0	0	0	0	0	0	1	9974	489	17	2		2	MUC17	7	100686037	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09	7923955	100686037	58452626	23	9065											
COG5	10466	genome.wustl.edu	37	7	106938658	106938658	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr7:106938658G>T	ENST00000347053.3	-	12	1385	c.1335C>A	c.(1333-1335)gaC>gaA	p.D445E	COG5_ENST00000297135.3_Missense_Mutation_p.D445E|COG5_ENST00000393603.2_Missense_Mutation_p.D445E	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	445					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CAACATAGAGGTCTGTAGTTC	0.338																																																0			7											145	136	139					7																	106938658		2203	4300	6503	106725894	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1335C>A	7.37:g.106938658G>T	ENSP00000334703:p.Asp445Glu		106725894	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265020	0.40095	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.59364	0.27;0.27;0.27	5.68	1.24	0.21308	.	0.103143	0.64402	N	0.000003	T	0.35856	0.0946	L	0.38838	1.175	0.33754	D	0.621033	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.21861	-1.0233	10	0.10111	T	0.7	-7.5822	3.324	0.07061	0.451:0.0:0.2392:0.3098	.	445;445	Q9UP83;Q9UP83-2	COG5_HUMAN;.	E	445	ENSP00000334703:D445E;ENSP00000297135:D445E;ENSP00000377228:D445E	ENSP00000297135:D445E	D	-	3	2	COG5	106725894	0.990000	0.36364	0.981000	0.43875	0.851000	0.48451	0.164000	0.16542	0.156000	0.19299	0.650000	0.86243	GAC		0.338	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			T	106938658	G	T	106938658	3	4	162	1	0	0	0	0	1	0	0	0	3661	1252	44	3	1295	3	COG5	7	106938658	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	6252621	106938658	52200005	24	9066											
LY96	23643	genome.wustl.edu	37	8	74939060	74939060	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr8:74939060G>C	ENST00000284818.2	+	4	459	c.368G>C	c.(367-369)gGa>gCa	p.G123A	LY96_ENST00000518893.1_Missense_Mutation_p.G93A	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	123	Interaction with lipopolysaccharide.				cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCCTTCAAGGGAATAAAATTT	0.299																																					GBM(131;1357 1748 34893 50149 52212)											0			8											83	81	82					8																	74939060		2203	4297	6500	75101614	SO:0001583	missense	23643			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.368G>C	8.37:g.74939060G>C	ENSP00000284818:p.Gly123Ala		75101614	B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	G	1.385	-0.582422	0.03827	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.39406	1.08;1.08	3.64	1.77	0.24775	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.527930	0.17140	N	0.185493	T	0.36799	0.0980	M	0.76838	2.35	0.09310	N	1	B	0.30114	0.269	B	0.21917	0.037	T	0.26643	-1.0097	10	0.39692	T	0.17	-3.4039	5.1346	0.14928	0.1166:0.2108:0.6727:0.0	.	123	Q9Y6Y9	LY96_HUMAN	A	123;93	ENSP00000284818:G123A;ENSP00000430533:G93A	ENSP00000284818:G123A	G	+	2	0	LY96	75101614	0.002000	0.14202	0.004000	0.12327	0.006000	0.05464	0.229000	0.17833	0.500000	0.27991	0.655000	0.94253	GGA		0.299	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		C	74939060	G	C	74939060	3	2	162	1	0	0	0	0	1	0	0	0	9102	1174	41	3	382	3	LY96	8	74939060	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		74939060	71424962	25	9067											
RIMS2	9699	genome.wustl.edu	37	8	104709490	104709490	+	Missense_Mutation	SNP	G	G	A	rs377666095		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr8:104709490G>A	ENST00000406091.3	+	2	353	c.353G>A	c.(352-354)cGt>cAt	p.R118H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	149	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTGTGCTCGTTGTGGAGGT	0.413										HNSCC(12;0.0054)																																						0			8						G	HIS/ARG	1,3917		0,1,1958	202	194	197		353	5.5	1	8		197	0,8322		0,0,4161	no	missense	RIMS2	NM_001100117.2	29	0,1,6119	AA,AG,GG		0.0,0.0255,0.0082	probably-damaging	118/1350	104709490	1,12239	1959	4161	6120	104778666	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.353G>A	8.37:g.104709490G>A	ENSP00000384892:p.Arg118His		104778666	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260075	0.95368	2.55E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.77620	-1.11;-1.11	5.49	5.49	0.81192	.	.	.	.	.	D	0.90428	0.7003	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91861	0.5499	9	0.87932	D	0	.	19.3601	0.94434	0.0:0.0:1.0:0.0	.	118	F8WD47	.	H	118;149;118;149	ENSP00000427018:R118H;ENSP00000384892:R118H	ENSP00000332184:R149H	R	+	2	0	RIMS2	104778666	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.869000	0.99810	2.559000	0.86315	0.462000	0.41574	CGT		0.413	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		A	104709490	G	A	104709490	3	1	162	1	0	0	0	0	1	0	0	0	13371	1145	40	1	359	1	RIMS2	8	104709490	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	29770430	104709490	41654532	26	9068											
ZFAT	57623	genome.wustl.edu	37	8	135524759	135524759	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr8:135524759G>A	ENST00000377838.3	-	14	3494	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	ZFAT_ENST00000520214.1_Missense_Mutation_p.A1095V|ZFAT_ENST00000520727.1_Missense_Mutation_p.A1095V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A1095V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1045V|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1107					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CGCGGCCACCGCTGCCTGTGT	0.527																																																0			8											161	171	168					8																	135524759		2025	4187	6212	135593941	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3320C>T	8.37:g.135524759G>A	ENSP00000367069:p.Ala1107Val		135593941	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472723	0.63737	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.11385	2.9;2.78;2.9;2.9;2.92	4.8	4.8	0.61643	.	0.228413	0.45126	D	0.000381	T	0.22044	0.0531	L	0.27053	0.805	0.53005	D	0.999967	D;D;D	0.89917	0.999;0.996;1.0	P;P;D	0.80764	0.692;0.713;0.994	T	0.01516	-1.1335	10	0.52906	T	0.07	-22.9777	17.3851	0.87413	0.0:0.0:1.0:0.0	.	226;1045;1107	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	V	1095;1095;1107;1095;994;1045	ENSP00000427831:A1095V;ENSP00000394501:A1095V;ENSP00000367069:A1107V;ENSP00000428483:A1095V;ENSP00000429091:A1045V	ENSP00000326997:A994V	A	-	2	0	ZFAT	135593941	1.000000	0.71417	0.160000	0.22671	0.182000	0.23217	7.316000	0.79007	2.648000	0.89879	0.563000	0.77884	GCG		0.527	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		A	135524759	G	A	135524759	3	1	162	1	0	0	0	0	1	0	0	0	17632	1087	38	1	423	1	ZFAT	8	135524759	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	30815269	135524759	10839263	27	9069											
ARHGAP39	80728	genome.wustl.edu	37	8	145763156	145763156	+	Intron	SNP	T	T	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr8:145763156T>A	ENST00000276826.5	-	6	2723				ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Nonsense_Mutation_p.K855*			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39						axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTGGACTTCTTCTTAGTGTTT	0.552																																																0			8											184	188	187					8																	145763156		2203	4300	6503	145733964	SO:0001627	intron_variant	80728				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2522-3570A>T	8.37:g.145763156T>A			145733964	B4E1I1	Nonsense_Mutation	SNP	ENST00000276826.5	37		.	.	.	.	.	.	.	.	.	.	T	38	7.090472	0.98055	.	.	ENSG00000147799	ENST00000377307	.	.	.	4.95	4.95	0.65309	.	0.258992	0.36519	N	0.002556	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-46.899	12.5727	0.56347	0.0:0.0:0.0:1.0	.	.	.	.	X	855	.	ENSP00000366522:K855X	K	-	1	0	ARHGAP39	145733964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.820000	0.75267	1.863000	0.54032	0.459000	0.35465	AAG		0.552	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			A	145763156	T	A	145763156	1	1	162	0	1	0	0	0	0	0	0	0	884	1792	62	5		5	ARHGAP39	8	145763156	Intron	SNP	T	TCGA-20-1682-01A-01W-0633-09	10238397	145763156	600866	28	9070											
PPAPDC2	403313	genome.wustl.edu	37	9	4663149	4663149	+	Silent	SNP	C	C	G			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr9:4663149C>G	ENST00000381883.2	+	1	852	c.774C>G	c.(772-774)gtC>gtG	p.V258V	SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000223517.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	258						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGCACAATGTCACCGACGTAG	0.552																																					Melanoma(187;1057 3809 8526)											0			9											156	125	135					9																	4663149		2203	4300	6503	4653149	SO:0001819	synonymous_variant	403313			AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"polyisoprenoid diphosphate phosphatase type 1"	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.774C>G	9.37:g.4663149C>G			4653149	B3KY05|Q5JVJ6|Q8NCK9	Silent	SNP	ENST00000381883.2	37	CCDS34981.1																																																																																				0.552	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		G	4663149	C	G	4663149	2	3	162	1	0	0	0	0	0	0	0	1	12295	813	29	3		3	PPAPDC2	9	4663149	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09		4663149	136550282	29	9071											
CAMSAP1	157922	genome.wustl.edu	37	9	138709844	138709844	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr9:138709844G>A	ENST00000389532.4	-	14	4314	c.4250C>T	c.(4249-4251)tCc>tTc	p.S1417F	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S1139F|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S1428F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1417					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTGCCCCCGGAATGAACGCT	0.637																																																0			9											43	45	45					9																	138709844		2203	4300	6503	137849665	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4250C>T	9.37:g.138709844G>A	ENSP00000374183:p.Ser1417Phe		137849665	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998433	0.54147	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.18502	2.21;2.21;2.21	5.28	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.991	T	0.41324	-0.9515	10	0.87932	D	0	-2.7359	13.9019	0.63809	0.0739:0.0:0.9261:0.0	.	1417;1428	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	F	1417;1139;1428	ENSP00000374183:S1417F;ENSP00000312463:S1139F;ENSP00000386420:S1428F	ENSP00000312463:S1139F	S	-	2	0	CAMSAP1	137849665	1.000000	0.71417	0.023000	0.16930	0.001000	0.01503	9.466000	0.97665	1.230000	0.43646	-0.258000	0.10820	TCC		0.637	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		A	138709844	G	A	138709844	3	1	162	1	0	0	0	0	1	0	0	0	2611	1174	41	2	574	2	CAMSAP1	9	138709844	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	134046695	138709844	2503587	30	9072											
CUBN	8029	genome.wustl.edu	37	10	16877175	16877175	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr10:16877175G>C	ENST00000377833.4	-	64	10265	c.10200C>G	c.(10198-10200)caC>caG	p.H3400Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3400	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAATGCCTTGTGATAGTCTC	0.423																																																0			10											124	112	116					10																	16877175		2203	4300	6503	16917181	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10200C>G	10.37:g.16877175G>C	ENSP00000367064:p.His3400Gln		16917181	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058408	0.01950	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.16743	2.32	4.84	-6.93	0.01638	CUB (5);	0.540328	0.15424	N	0.263082	T	0.07548	0.0190	N	0.20328	0.56	0.22213	N	0.999282	B	0.06786	0.001	B	0.04013	0.001	T	0.16305	-1.0407	10	0.34782	T	0.22	.	7.5495	0.27788	0.4403:0.3018:0.2579:0.0	.	3400	O60494	CUBN_HUMAN	Q	3400;241	ENSP00000367064:H3400Q	ENSP00000367064:H3400Q	H	-	3	2	CUBN	16917181	0.095000	0.21747	0.000000	0.03702	0.019000	0.09904	-0.539000	0.06113	-1.442000	0.01955	-0.291000	0.09656	CAC		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16877175	G	C	16877175	3	2	162	1	0	0	0	0	1	0	0	0	4051	1368	48	3	687	3	CUBN	10	16877175	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		16877175	118657572	31	9073											
CUBN	8029	genome.wustl.edu	37	10	17151705	17151705	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr10:17151705G>T	ENST00000377833.4	-	10	1110	c.1045C>A	c.(1045-1047)Ctc>Atc	p.L349I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	349	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGTCTGTGAGTGTGCACACT	0.488																																																0			10											184	128	147					10																	17151705		2203	4300	6503	17191711	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1045C>A	10.37:g.17151705G>T	ENSP00000367064:p.Leu349Ile		17191711	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	8.139	0.784720	0.16189	.	.	ENSG00000107611	ENST00000377833	D	0.95554	-3.74	5.64	2.72	0.32119	Growth factor, receptor (1);Epidermal growth factor-like, type 3 (1);	0.603639	0.13676	N	0.370520	D	0.90417	0.7000	L	0.29908	0.895	0.31534	N	0.660823	B	0.13145	0.007	B	0.11329	0.006	D	0.83744	0.0205	10	0.22706	T	0.39	.	10.0111	0.41986	0.0691:0.2588:0.672:0.0	.	349	O60494	CUBN_HUMAN	I	349	ENSP00000367064:L349I	ENSP00000367064:L349I	L	-	1	0	CUBN	17191711	0.174000	0.23070	0.001000	0.08648	0.737000	0.42083	2.656000	0.46716	0.391000	0.25143	-0.252000	0.11476	CTC		0.488	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	17151705	G	T	17151705	3	4	162	1	0	0	0	0	1	0	0	0	4051	1029	36	3	10058	3	CUBN	10	17151705	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	274530	17151705	118383042	32	9074											
GRID1	2894	genome.wustl.edu	37	10	87484429	87484429	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr10:87484429G>T	ENST00000327946.7	-	11	1623	c.1538C>A	c.(1537-1539)gCa>gAa	p.A513E	GRID1_ENST00000536331.1_Missense_Mutation_p.A84E	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	513					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGCCAAGTCTGCTCTCTGAAA	0.527										Multiple Myeloma(13;0.14)																																						0			10											53	48	50					10																	87484429		2203	4300	6503	87474409	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1538C>A	10.37:g.87484429G>T	ENSP00000330148:p.Ala513Glu		87474409	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171720	0.94807	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.29917	1.55;1.55	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	H	0.95437	3.67	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.78841	-0.2045	10	0.87932	D	0	.	19.0851	0.93200	0.0:0.0:1.0:0.0	.	513	Q9ULK0	GRID1_HUMAN	E	513;84	ENSP00000330148:A513E;ENSP00000444455:A84E	ENSP00000330148:A513E	A	-	2	0	GRID1	87474409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.741000	0.93983	0.650000	0.86243	GCA		0.527	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		T	87484429	G	T	87484429	3	4	162	1	0	0	0	0	1	0	0	0	6771	1319	46	3	1515	3	GRID1	10	87484429	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	70332724	87484429	48050318	33	9075											
NLRP10	338322	genome.wustl.edu	37	11	7982397	7982397	+	Silent	SNP	C	C	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr11:7982397C>T	ENST00000328600.2	-	2	923	c.762G>A	c.(760-762)ctG>ctA	p.L254L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	254	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGGCCTCTGCAGCTCATCAA	0.542																																																0			11											55	55	55					11																	7982397		2201	4296	6497	7938973	SO:0001819	synonymous_variant	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.762G>A	11.37:g.7982397C>T			7938973	Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	CCDS7784.1																																																																																				0.542	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		T	7982397	C	T	7982397	2	4	162	1	0	0	0	0	0	0	0	1	10472	697	25	2		2	NLRP10	11	7982397	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09		7982397	127024119	34	9076											
MRVI1	10335	genome.wustl.edu	37	11	10648029	10648029	+	Missense_Mutation	SNP	C	C	G	rs78826049	byFrequency	TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr11:10648029C>G	ENST00000436272.1	-	8	849	c.771G>C	c.(769-771)gaG>gaC	p.E257D	MRVI1_ENST00000552103.1_Missense_Mutation_p.E193D|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.E275D|MRVI1_ENST00000531107.1_Missense_Mutation_p.E276D|MRVI1_ENST00000423302.2_Missense_Mutation_p.E284D|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.E193D|MRVI1_ENST00000547195.1_Missense_Mutation_p.E193D|MRVI1_ENST00000424001.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	257					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTATTGCAATCTCTTTGGACT	0.532																																																0			11											98	102	101					11																	10648029		1952	4135	6087	10604605	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.771G>C	11.37:g.10648029C>G	ENSP00000412229:p.Glu257Asp		10604605	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	C	12.41	1.930694	0.34096	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T	0.17854	2.8;2.73;2.25;2.25;2.62;2.79;2.25	5.56	-1.16	0.09678	.	0.107593	0.40728	N	0.001032	T	0.12860	0.0312	L	0.54323	1.7	0.80722	D	1	B;B;B	0.32693	0.262;0.262;0.38	B;B;B	0.30316	0.053;0.053;0.114	T	0.05419	-1.0886	10	0.45353	T	0.12	-12.0484	6.3876	0.21569	0.0:0.3606:0.247:0.3924	.	257;276;275	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	D	275;258;257;193;193;284;276;193	ENSP00000414598:E275D;ENSP00000412229:E257D;ENSP00000448278:E193D;ENSP00000446764:E193D;ENSP00000412130:E284D;ENSP00000432436:E276D;ENSP00000432067:E193D	ENSP00000307885:E258D	E	-	3	2	MRVI1	10604605	0.455000	0.25736	0.513000	0.27749	0.942000	0.58702	-0.252000	0.08806	-0.535000	0.06307	-0.253000	0.11424	GAG		0.532	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		G	10648029	C	G	10648029	3	3	162	1	0	0	0	0	1	0	0	0	9853	912	32	3	1938	3	MRVI1	11	10648029	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	2665632	10648029	124358487	35	9077											
NR1H3	10062	genome.wustl.edu	37	11	47290222	47290222	+	Missense_Mutation	SNP	C	C	G	rs149895806	byFrequency	TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr11:47290222C>G	ENST00000467728.1	+	9	2557	c.1319C>G	c.(1318-1320)tCt>tGt	p.S440C	NR1H3_ENST00000441012.2_Missense_Mutation_p.S440C|MADD_ENST00000349238.3_5'Flank|NR1H3_ENST00000481889.2_Missense_Mutation_p.S459C|NR1H3_ENST00000395397.3_Missense_Mutation_p.S395C|MADD_ENST00000395344.3_5'Flank|MADD_ENST00000402799.1_5'Flank|MADD_ENST00000406482.1_5'Flank|NR1H3_ENST00000405853.3_Missense_Mutation_p.S380C|MADD_ENST00000342922.4_5'Flank|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Missense_Mutation_p.S335C|MADD_ENST00000395336.3_5'Flank|MADD_ENST00000402192.2_5'Flank|MADD_ENST00000407859.3_5'Flank|NR1H3_ENST00000407404.1_Missense_Mutation_p.S380C|RP11-17G12.3_ENST00000543925.1_RNA|RP11-17G12.3_ENST00000545474.1_RNA|NR1H3_ENST00000527949.1_Missense_Mutation_p.S289C|MADD_ENST00000311027.5_5'Flank			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	440					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CCGCTGCTCTCTGAGATCTGG	0.542													C|||	2	0.000399361	0	0.0029	5008	,	,		21683	0		0	False		,,,				2504	0															0			11						C	CYS/SER,CYS/SER,CYS/SER	0,4402		0,0,2201	114	104	107		1139,1184,1319	5.8	1	11	dbSNP_134	107	3,8593	2.2+/-6.3	0,3,4295	yes	missense,missense,missense	NR1H3	NM_001130101.1,NM_001130102.1,NM_005693.2	112,112,112	0,3,6496	GG,GC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	380/388,395/403,440/448	47290222	3,12995	2201	4298	6499	47246798	SO:0001583	missense	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.1319C>G	11.37:g.47290222C>G	ENSP00000420656:p.Ser440Cys		47246798	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	CCDS7929.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	21.9	4.218475	0.79464	0.0	3.49E-4	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61;-3.61	5.8	5.8	0.92144	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.92348	0.7572	N	0.11064	0.09	0.80722	D	1	B;D;D;P;D	0.89917	0.149;1.0;1.0;0.752;1.0	B;D;D;B;D	0.85130	0.022;0.986;0.981;0.233;0.997	D	0.93462	0.6811	10	0.44086	T	0.13	.	20.0545	0.97645	0.0:1.0:0.0:0.0	.	446;335;440;459;380	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	C	395;335;459;380;440;440;380;289	ENSP00000378793:S395C;ENSP00000385073:S335C;ENSP00000433271:S459C;ENSP00000385801:S380C;ENSP00000387946:S440C;ENSP00000420656:S440C;ENSP00000384745:S380C;ENSP00000432073:S289C	ENSP00000378793:S395C	S	+	2	0	NR1H3	47246798	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.487000	0.81328	2.748000	0.94277	0.655000	0.94253	TCT		0.542	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			G	47290222	C	G	47290222	3	3	162	1	0	0	0	0	1	0	0	0	10618	913	32	3	1353	3	NR1H3	11	47290222	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	36642193	47290222	87716294	36	9078											
PC	5091	genome.wustl.edu	37	11	66617253	66617255	+	In_Frame_Del	DEL	CTT	CTT	-	rs368895283		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	CTT	CTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr11:66617253_66617255delCTT	ENST00000393958.2	-	20	3067_3069	c.2974_2976delAAG	c.(2974-2976)aagdel	p.K992del	PC_ENST00000529047.1_In_Frame_Del_p.K112del|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_In_Frame_Del_p.K992del|PC_ENST00000393960.1_In_Frame_Del_p.K992del	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	992					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTACCAGCTCCTTCTCCAGTGCC	0.611																																																0			11																																								66373831	SO:0001651	inframe_deletion	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2974_2976delAAG	11.37:g.66617253_66617255delCTT	ENSP00000377530:p.Lys992del		66373829	B4DN00|Q16705	In_Frame_Del	DEL	ENST00000393958.2	37	CCDS8152.1																																																																																				0.611	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		-	66617255	CTT	-	66617253	7	5	162	1	0	1	0	1	0	0	0	0	11497	680	24	0	572	0	PC	11	66617253	In_Frame_Del	DEL	CTT	TCGA-20-1682-01A-01W-0633-09	19327031	66617253	68389263	37	9079											
CHRDL2	25884	genome.wustl.edu	37	11	74408313	74408313	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr11:74408313C>G	ENST00000376332.3	-	10	1646	c.1150G>C	c.(1150-1152)Gtc>Ctc	p.V384L	CHRDL2_ENST00000263671.5_Missense_Mutation_p.S402T	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	384					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TGCTTCCTGACTTTCTTGATC	0.547																																																0			11											119	108	112					11																	74408313		2200	4293	6493	74085961	SO:0001583	missense	25884			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1150G>C	11.37:g.74408313C>G	ENSP00000365510:p.Val384Leu		74085961	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.02|16.02	3.002876|3.002876	0.54254|0.54254	.|.	.|.	ENSG00000054938|ENSG00000054938	ENST00000263671|ENST00000529912;ENST00000376332	T|T	0.50001|0.47869	0.76|0.83	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.985432|.	0.08309|.	N|.	0.965701|.	T|T	0.27241|0.27241	0.0668|0.0668	N|N	0.08118|0.08118	0|0	0.33531|0.33531	D|D	0.593634|0.593634	D|B	0.56968|0.12013	0.978|0.005	P|B	0.47402|0.09377	0.546|0.004	T|T	0.28808|0.28808	-1.0032|-1.0032	10|9	0.12103|0.34782	T|T	0.63|0.22	-1.191|-1.191	9.9309|9.9309	0.41521|0.41521	0.0:0.9069:0.0:0.0931|0.0:0.9069:0.0:0.0931	.|.	402|384	Q6WN34-2|Q6WN34	.|CRDL2_HUMAN	T|L	402|42;384	ENSP00000263671:S402T|ENSP00000365510:V384L	ENSP00000263671:S402T|ENSP00000365510:V384L	S|V	-|-	2|1	0|0	CHRDL2|CHRDL2	74085961|74085961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.798000|3.798000	0.55522|0.55522	2.449000|2.449000	0.82847|0.82847	0.591000|0.591000	0.81541|0.81541	AGT|GTC		0.547	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			G	74408313	C	G	74408313	3	3	162	1	0	0	0	0	1	0	0	0	3374	565	20	3	158	3	CHRDL2	11	74408313	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	7791060	74408313	60598203	38	9080											
OR2AT4	341152	genome.wustl.edu	37	11	74800043	74800043	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr11:74800043C>T	ENST00000305159.3	-	1	756	c.716G>A	c.(715-717)cGg>cAg	p.R239Q		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGCTTTTGCCCGTCCTTCTAG	0.582																																																0			11											54	52	53					11																	74800043		2200	4293	6493	74477691	SO:0001583	missense	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.716G>A	11.37:g.74800043C>T	ENSP00000304846:p.Arg239Gln		74477691	B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130710	0.37630	.	.	ENSG00000171561	ENST00000305159	T	0.43294	0.95	5.12	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.250633	0.20813	N	0.085207	T	0.57431	0.2053	M	0.70275	2.135	0.09310	N	1	D	0.67145	0.996	P	0.62885	0.908	T	0.49762	-0.8905	10	0.62326	D	0.03	.	9.9918	0.41877	0.0:0.832:0.0:0.168	.	239	A6NND4	O2AT4_HUMAN	Q	239	ENSP00000304846:R239Q	ENSP00000304846:R239Q	R	-	2	0	OR2AT4	74477691	0.000000	0.05858	0.074000	0.20217	0.413000	0.31143	-0.636000	0.05465	0.661000	0.30985	-0.133000	0.14855	CGG		0.582	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		T	74800043	C	T	74800043	3	4	162	1	0	0	0	0	1	0	0	0	10987	652	23	1	249	1	OR2AT4	11	74800043	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	391730	74800043	60206473	39	9081											
ME3	10873	genome.wustl.edu	37	11	86157520	86157520	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr11:86157520T>C	ENST00000393324.3	-	12	1643	c.1390A>G	c.(1390-1392)Att>Gtt	p.I464V	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.I464V|ME3_ENST00000359636.2_Missense_Mutation_p.I464V	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	464					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CTGGCAAAAATCCCTCGGCCC	0.488																																																0			11											53	46	48					11																	86157520		2202	4299	6501	85835168	SO:0001583	missense	10873			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1390A>G	11.37:g.86157520T>C	ENSP00000376998:p.Ile464Val		85835168	B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822923	0.50739	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.34	5.34	0.76211	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.28740	0.885	0.80722	D	1	B	0.19200	0.034	B	0.31686	0.134	T	0.20605	-1.0270	9	.	.	.	-4.4893	15.3077	0.74004	0.0:0.0:0.0:1.0	.	464	Q16798	MAON_HUMAN	V	464	ENSP00000352657:I464V;ENSP00000440246:I464V;ENSP00000376998:I464V;ENSP00000431182:I464V	.	I	-	1	0	ME3	85835168	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	6.095000	0.71439	2.005000	0.58758	0.528000	0.53228	ATT		0.488	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			C	86157520	T	C	86157520	3	2	162	1	0	0	0	0	1	0	0	0	9419	1435	50	4	436	4	ME3	11	86157520	Missense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09	11357477	86157520	48848996	40	9082											
JRKL	8690	genome.wustl.edu	37	11	96125359	96125359	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr11:96125359A>C	ENST00000332349.4	+	2	1793	c.1546A>C	c.(1546-1548)Aaa>Caa	p.K516Q	CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000546177.1_Intron|JRKL_ENST00000458427.1_Missense_Mutation_p.K516Q	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	516					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CATCAGAAATAAACAGAAGAT	0.333																																																0			11											36	33	34					11																	96125359		2197	4284	6481	95765007	SO:0001583	missense	8690			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"erky (mouse) homolog-like", "jerky homolog-like (mouse)"			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1546A>C	11.37:g.96125359A>C	ENSP00000333350:p.Lys516Gln		95765007	A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059524	0.55325	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.26067	1.76;1.76	4.5	4.5	0.54988	.	0.000000	0.41001	D	0.000978	T	0.42131	0.1189	L	0.58101	1.795	0.32260	N	0.570296	D	0.76494	0.999	D	0.80764	0.994	T	0.48399	-0.9039	10	0.24483	T	0.36	-18.6906	10.4672	0.44616	1.0:0.0:0.0:0.0	.	516	Q9Y4A0	JERKL_HUMAN	Q	516	ENSP00000333350:K516Q;ENSP00000389989:K516Q	ENSP00000333350:K516Q	K	+	1	0	JRKL	95765007	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.460000	0.60108	1.789000	0.52484	0.379000	0.24179	AAA		0.333	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		C	96125359	A	C	96125359	3	2	162	1	0	0	0	0	1	0	0	0	7965	363	13	5	1548	5	JRKL	11	96125359	Missense_Mutation	SNP	A	TCGA-20-1682-01A-01W-0633-09	9967839	96125359	38881157	41	9083											
VWF	7450	genome.wustl.edu	37	12	6062762	6062762	+	Splice_Site	SNP	T	T	G	rs111381150		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr12:6062762T>G	ENST00000261405.5	-	48	8142		c.e48-2			NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTTGTAACCCTGCATCCAGAG	0.458																																																0			12											118	96	103					12																	6062762		2203	4300	6503	5933023	SO:0001630	splice_region_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7888-2A>C	12.37:g.6062762T>G			5933023	Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	9.299	1.052533	0.19907	.	.	ENSG00000110799	ENST00000261405	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.668	0.45741	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VWF	5933023	0.997000	0.39634	0.926000	0.36857	0.036000	0.12997	4.158000	0.58150	2.083000	0.62718	0.533000	0.62120	.		0.458	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Intron	G	6062762	T	G	6062762	5	3	162	1	0	0	0	0	0	0	1	0	17246	1594	55	5	575	5	VWF	12	6062762	Splice_Site	SNP	T	TCGA-20-1682-01A-01W-0633-09		6062762	127789133	42	9084											
SLC2A3	6515	genome.wustl.edu	37	12	8083913	8083913	+	Silent	SNP	C	C	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr12:8083913C>T	ENST00000075120.7	-	4	678	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	146					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCAGTAGGCGAGATCTCTC	0.517																																					Colon(96;424 1461 14416 20933 23688)											0			12											90	84	86					12																	8083913		2203	4300	6503	7975180	SO:0001819	synonymous_variant	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.438G>A	12.37:g.8083913C>T			7975180	B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	CCDS8586.1																																																																																				0.517	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		T	8083913	C	T	8083913	2	4	162	1	0	0	0	0	0	0	0	1	14548	755	27	1		1	SLC2A3	12	8083913	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09	2021151	8083913	125767982	43	9085											
GUCY2C	2984	genome.wustl.edu	37	12	14827688	14827688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr12:14827688G>A	ENST00000261170.3	-	8	1091	c.955C>T	c.(955-957)Cga>Tga	p.R319*	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	319					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	GCAAAGTCTCGTTTTGTCTAA	0.363																																																0			12											60	64	63					12																	14827688		2202	4300	6502	14718955	SO:0001587	stop_gained	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.955C>T	12.37:g.14827688G>A	ENSP00000261170:p.Arg319*		14718955	B2RMY6	Nonsense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074066	0.76415	.	.	ENSG00000070019	ENST00000261170	.	.	.	5.68	1.97	0.26223	.	0.413363	0.30538	N	0.009408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.7086	0.00920	0.1957:0.1269:0.2283:0.4492	.	.	.	.	X	319	.	ENSP00000261170:R319X	R	-	1	2	GUCY2C	14718955	0.039000	0.19947	0.001000	0.08648	0.005000	0.04900	0.517000	0.22832	0.411000	0.25702	-0.262000	0.10625	CGA		0.363	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			A	14827688	G	A	14827688	4	1	162	1	0	0	0	0	0	1	0	0	6896	1153	40	1	2346	1	GUCY2C	12	14827688	Nonsense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	6743775	14827688	119024207	44	9086											
PPHLN1	51535	genome.wustl.edu	37	12	42835124	42835124	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr12:42835124G>T	ENST00000395568.2	+	10	1001	c.917G>T	c.(916-918)cGa>cTa	p.R306L	PPHLN1_ENST00000449194.2_Missense_Mutation_p.R287L|PPHLN1_ENST00000432191.2_Missense_Mutation_p.R251L|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R313L|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R251L|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R258L|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R324L|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R306L|PPHLN1_ENST00000317560.9_Missense_Mutation_p.R239L|PPHLN1_ENST00000256678.8_Missense_Mutation_p.R186L	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	306					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TAGGTTTACCGACAAGACTGT	0.363																																																0			12											143	137	139					12																	42835124		2203	4300	6503	41121391	SO:0001583	missense	51535			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.917G>T	12.37:g.42835124G>T	ENSP00000378935:p.Arg306Leu		41121391	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453913	0.63290	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000256678;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191	.	.	.	6.06	5.15	0.70609	.	0.107759	0.64402	N	0.000009	T	0.68723	0.3032	L	0.49455	1.56	0.48571	D	0.999672	P;P;D;D;D;D;D;P;P;B;P;P	0.89917	0.502;0.679;1.0;0.998;1.0;0.997;1.0;0.876;0.702;0.355;0.702;0.57	B;B;D;D;D;D;D;P;B;B;B;B	0.97110	0.224;0.353;0.999;0.964;1.0;0.939;0.999;0.618;0.334;0.276;0.334;0.261	T	0.69840	-0.5036	9	0.54805	T	0.06	-1.1389	10.8086	0.46533	0.0671:0.0:0.8005:0.1323	.	239;186;232;251;239;251;306;287;306;258;313;324	F8WF16;F8W6A0;B7Z695;B7Z8L1;B7Z615;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;F8W0Q9	.;.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.	L	324;313;251;306;306;186;287;258;239;251	.	ENSP00000256678:R186L	R	+	2	0	PPHLN1	41121391	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.407000	0.66363	1.524000	0.49035	0.655000	0.94253	CGA		0.363	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		T	42835124	G	T	42835124	3	4	162	1	0	0	0	0	1	0	0	0	12315	1058	37	3	988	3	PPHLN1	12	42835124	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	28007436	42835124	91016771	45	9087											
KRT4	3851	genome.wustl.edu	37	12	53207718	53207718	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr12:53207718C>A	ENST00000551956.1	-	1	617	c.125G>T	c.(124-126)tGc>tTc	p.C42F	KRT4_ENST00000293774.4_Missense_Mutation_p.C116F|KRT4_ENST00000458244.2_Missense_Mutation_p.C42F			P19013	K2C4_HUMAN	keratin 4	42	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCCAGAAGAGCATCGGCCAGC	0.612																																					Pancreas(190;284 2995 41444 45903)											0			12											96	108	104					12																	53207718		2071	4215	6286	51493985	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.125G>T	12.37:g.53207718C>A	ENSP00000448220:p.Cys42Phe		51493985	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056358	0.55325	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;D	0.86097	-0.91;-0.91;-2.07	5.0	5.0	0.66597	.	0.000000	0.52532	D	0.000074	D	0.83381	0.5242	L	0.33624	1.015	0.43846	D	0.996437	.	.	.	.	.	.	T	0.82499	-0.0427	8	0.42905	T	0.14	.	12.8017	0.57591	0.0:0.9196:0.0:0.0804	.	.	.	.	F	42;116;42	ENSP00000448220:C42F;ENSP00000293774:C116F;ENSP00000387904:C42F	ENSP00000293774:C116F	C	-	2	0	KRT4	51493985	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	6.032000	0.70918	2.705000	0.92388	0.585000	0.79938	TGC		0.612	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		A	53207718	C	A	53207718	3	1	162	1	0	0	0	0	1	0	0	0	8477	710	25	3	1473	3	KRT4	12	53207718	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	10372594	53207718	80644177	46	9088											
GLI1	2735	genome.wustl.edu	37	12	57860054	57860054	+	Missense_Mutation	SNP	G	G	A	rs201621277		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr12:57860054G>A	ENST00000228682.2	+	8	885	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	GLI1_ENST00000543426.1_Missense_Mutation_p.R137Q|GLI1_ENST00000546141.1_Missense_Mutation_p.R224Q	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	265					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACGGGGAGCGGAAGGAGTTC	0.597													G|||	1	0.000199681	0	0	5008	,	,		18788	0		0.001	False		,,,				2504	0				Pancreas(157;841 1936 10503 41495 50368)											0			12											157	153	154					12																	57860054		2203	4300	6503	56146321	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.794G>A	12.37:g.57860054G>A	ENSP00000228682:p.Arg265Gln		56146321	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.56	2.272870	0.40194	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8	4.03	4.03	0.46877	Zinc finger, C2H2 (1);	0.185246	0.25971	N	0.027135	T	0.70833	0.3269	N	0.02539	-0.55	0.34817	D	0.738262	P	0.49185	0.92	B	0.34242	0.178	T	0.79453	-0.1797	10	0.87932	D	0	.	6.2844	0.21025	0.2068:0.0:0.7932:0.0	.	265	P08151	GLI1_HUMAN	Q	137;137;265;224;224;137	ENSP00000436671:R137Q;ENSP00000437607:R137Q;ENSP00000228682:R265Q;ENSP00000441006:R224Q;ENSP00000434408:R224Q	ENSP00000228682:R265Q	R	+	2	0	GLI1	56146321	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	5.238000	0.65366	2.247000	0.74100	0.591000	0.81541	CGG		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		A	57860054	G	A	57860054	3	1	162	1	0	0	0	0	1	0	0	0	6437	1116	39	1	820	1	GLI1	12	57860054	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	4652336	57860054	75991841	47	9089											
KSR2	283455	genome.wustl.edu	37	12	117907528	117907528	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr12:117907528C>G	ENST00000339824.5	-	19	3512	c.2785G>C	c.(2785-2787)Gag>Cag	p.E929Q	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.E900Q			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	929	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGTTTCTCCAGCATGTCC	0.483																																																0			12											124	124	124					12																	117907528		1984	4176	6160	116391911	SO:0001583	missense	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2785G>C	12.37:g.117907528C>G	ENSP00000339952:p.Glu929Gln		116391911	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.121939	0.77436	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.80304	-1.36;-1.36	4.55	4.55	0.56014	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	L	0.59967	1.855	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.89190	0.3550	10	0.87932	D	0	.	17.296	0.87171	0.0:1.0:0.0:0.0	.	929	Q6VAB6	KSR2_HUMAN	Q	900;929	ENSP00000389715:E900Q;ENSP00000339952:E929Q	ENSP00000339952:E929Q	E	-	1	0	KSR2	116391911	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.787000	0.85759	2.069000	0.61940	0.462000	0.41574	GAG		0.483	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		G	117907528	C	G	117907528	3	3	162	1	0	0	0	0	1	0	0	0	8582	864	30	3	75	3	KSR2	12	117907528	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	60047474	117907528	15944367	48	9090											
TAOK3	51347	genome.wustl.edu	37	12	118590131	118590131	+	Silent	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr12:118590131G>A	ENST00000392533.3	-	20	2926	c.2436C>T	c.(2434-2436)taC>taT	p.Y812Y	TAOK3_ENST00000537952.1_Silent_p.Y352Y|TAOK3_ENST00000419821.2_Silent_p.Y812Y|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000536979.1_Silent_p.Y7Y	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	812					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTGCTCTGGTAGGCGTTGA	0.532																																																0			12											183	136	151					12																	118590131		2203	4300	6503	117074514	SO:0001819	synonymous_variant	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2436C>T	12.37:g.118590131G>A			117074514	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	CCDS9188.1																																																																																				0.532	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		A	118590131	G	A	118590131	2	1	162	1	0	0	0	0	0	0	0	1	15549	1256	44	2		2	TAOK3	12	118590131	Silent	SNP	G	TCGA-20-1682-01A-01W-0633-09	682603	118590131	15261764	49	9091											
TUBA3C	7278	genome.wustl.edu	37	13	19751365	19751365	+	Missense_Mutation	SNP	G	G	C	rs139914455	byFrequency	TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr13:19751365G>C	ENST00000400113.3	-	4	862	c.758C>G	c.(757-759)aCg>aGg	p.T253R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	253					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGGAATTCCGTCAAGTCCAC	0.617																																																0			13											150	132	138					13																	19751365		2203	4300	6503	18649365	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.758C>G	13.37:g.19751365G>C	ENSP00000382982:p.Thr253Arg		18649365	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	9.597	1.127743	0.20959	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.83075	-1.68	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000189	D	0.84575	0.5502	.	.	.	0.44937	D	0.997957	.	.	.	.	.	.	D	0.83999	0.0342	7	0.72032	D	0.01	.	8.3297	0.32178	0.0:0.0:1.0:0.0	.	.	.	.	R	253	ENSP00000382982:T253R	ENSP00000354037:T253R	T	-	2	0	TUBA3C	18649365	1.000000	0.71417	0.954000	0.39281	0.213000	0.24496	4.987000	0.63857	0.972000	0.38314	0.175000	0.17021	ACG		0.617	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		C	19751365	G	C	19751365	3	2	162	1	0	0	0	0	1	0	0	0	16746	1145	40	3	602	3	TUBA3C	13	19751365	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		19751365	95418513	50	9092											
ELF1	1997	genome.wustl.edu	37	13	41508159	41508159	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr13:41508159A>T	ENST00000239882.3	-	9	1576	c.1262T>A	c.(1261-1263)aTa>aAa	p.I421K	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.I397K	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	421					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGGAGCCTGTATAGTCCTATT	0.378																																																0			13											88	80	83					13																	41508159		2203	4300	6503	40406159	SO:0001583	missense	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1262T>A	13.37:g.41508159A>T	ENSP00000239882:p.Ile421Lys		40406159	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169423	0.57584	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.52526	0.66;0.66	5.44	4.27	0.50696	.	0.299802	0.33253	N	0.005120	T	0.44222	0.1283	L	0.29908	0.895	0.48571	D	0.999676	P;D	0.53462	0.811;0.96	B;P	0.50192	0.427;0.634	T	0.41395	-0.9511	10	0.72032	D	0.01	.	10.9893	0.47541	0.9269:0.0:0.0731:0.0	.	397;421	E9PDQ9;P32519	.;ELF1_HUMAN	K	397;163;421	ENSP00000405580:I397K;ENSP00000239882:I421K	ENSP00000239882:I421K	I	-	2	0	ELF1	40406159	0.996000	0.38824	0.979000	0.43373	0.988000	0.76386	6.865000	0.75500	0.904000	0.36572	0.533000	0.62120	ATA		0.378	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		T	41508159	A	T	41508159	3	4	162	1	0	0	0	0	1	0	0	0	5053	449	16	5	601	5	ELF1	13	41508159	Missense_Mutation	SNP	A	TCGA-20-1682-01A-01W-0633-09	21756794	41508159	73661719	51	9093											
ATP7B	540	genome.wustl.edu	37	13	52542721	52542732	+	In_Frame_Del	DEL	GGCAACCAACAC	GGCAACCAACAC	-	rs192957846		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	GGCAACCAACAC	GGCAACCAACAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr13:52542721_52542732delGGCAACCAACAC	ENST00000242839.4	-	4	1711_1722	c.1555_1566delGTGTTGGTTGCC	c.(1555-1566)gtgttggttgccdel	p.VLVA519del	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_In_Frame_Del_p.VLVA519del|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000448424.2_In_Frame_Del_p.VLVA519del|ATP7B_ENST00000418097.2_In_Frame_Del_p.VLVA519del|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_In_Frame_Del_p.VLVA408del	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	519	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTGCCATCAAGGCAACCAACACGGAGAGAACA	0.519									Wilson disease																																							0			13																																								51440733	SO:0001651	inframe_deletion	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1555_1566delGTGTTGGTTGCC	13.37:g.52542721_52542732delGGCAACCAACAC	ENSP00000242839:p.Val519_Ala522del		51440722	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	In_Frame_Del	DEL	ENST00000242839.4	37	CCDS41892.1																																																																																				0.519	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		-	52542732	GGCAACCAACAC	-	52542721	7	5	162	1	0	1	0	1	0	0	0	0	1191	987	35	0	2903	0	ATP7B	13	52542721	In_Frame_Del	DEL	GGCAACCAACAC	TCGA-20-1682-01A-01W-0633-09	11034562	52542721	62627157	52	9094											
C14orf21	161424	genome.wustl.edu	37	14	24770921	24770921	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr14:24770921C>G	ENST00000267425.3	+	3	894	c.801C>G	c.(799-801)gaC>gaG	p.D267E	NOP9_ENST00000396802.3_Missense_Mutation_p.D267E|DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	267							poly(A) RNA binding (GO:0044822)										TTCTGAAGGACATTGCAGGTA	0.493																																																0			14											96	83	87					14																	24770921		2203	4300	6503	23840761	SO:0001583	missense	161424				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.801C>G	14.37:g.24770921C>G	ENSP00000267425:p.Asp267Glu		23840761	A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606003	0.66445	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.13778	2.56;2.56	5.46	3.51	0.40186	Armadillo-type fold (1);	0.105290	0.64402	D	0.000005	T	0.22781	0.0550	L	0.56769	1.78	0.31888	N	0.617535	D	0.64830	0.994	P	0.61397	0.888	T	0.05419	-1.0886	10	0.09084	T	0.74	-5.8723	9.3343	0.38040	0.0:0.8145:0.0:0.1855	.	267	Q86U38	CN021_HUMAN	E	267	ENSP00000267425:D267E;ENSP00000380020:D267E	ENSP00000267425:D267E	D	+	3	2	C14orf21	23840761	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.517000	0.22832	1.538000	0.49270	0.655000	0.94253	GAC		0.493	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			G	24770921	C	G	24770921	3	3	162	1	0	0	0	0	1	0	0	0	1769	477	17	3	811	3	C14orf21	14	24770921	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09		24770921	82578619	53	9095											
SYT17	51760	genome.wustl.edu	37	16	19236110	19236110	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr16:19236110G>C	ENST00000355377.2	+	7	1576	c.1178G>C	c.(1177-1179)aGc>aCc	p.S393T	SYT17_ENST00000568433.1_Missense_Mutation_p.S87T|SYT17_ENST00000562034.1_Missense_Mutation_p.S332T|SYT17_ENST00000568115.1_Missense_Mutation_p.S332T|SYT17_ENST00000562711.2_Missense_Mutation_p.S389T	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	393	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GAATCCTTCAGCTTCAAAGTT	0.443																																																0			16											116	115	115					16																	19236110		2197	4300	6497	19143611	SO:0001583	missense	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1178G>C	16.37:g.19236110G>C	ENSP00000347538:p.Ser393Thr		19143611	O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112205	0.77210	.	.	ENSG00000103528	ENST00000355377	T	0.68479	-0.33	5.05	5.05	0.67936	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	N	0.25789	0.76	0.80722	D	1	D;D	0.56521	0.976;0.976	D;P	0.65140	0.932;0.908	T	0.61073	-0.7136	10	0.02654	T	1	.	18.405	0.90532	0.0:0.0:1.0:0.0	.	393;332	Q9BSW7;B4DJB2	SYT17_HUMAN;.	T	393	ENSP00000347538:S393T	ENSP00000347538:S393T	S	+	2	0	SYT17	19143611	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.378000	0.90144	2.355000	0.79922	0.561000	0.74099	AGC		0.443	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		C	19236110	G	C	19236110	3	2	162	1	0	0	0	0	1	0	0	0	15473	971	34	3	1204	3	SYT17	16	19236110	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		19236110	71118643	54	9096											
PDILT	204474	genome.wustl.edu	37	16	20371968	20371968	+	Nonsense_Mutation	SNP	A	A	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr16:20371968A>T	ENST00000302451.4	-	11	1676	c.1428T>A	c.(1426-1428)taT>taA	p.Y476*		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	476					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTTCTCCCTTATACAGGACAG	0.488																																																0			16											152	139	143					16																	20371968		2203	4300	6503	20279469	SO:0001587	stop_gained	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1428T>A	16.37:g.20371968A>T	ENSP00000305465:p.Tyr476*		20279469	Q8IVQ5	Nonsense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879794	0.91740	.	.	ENSG00000169340	ENST00000302451	.	.	.	4.58	-1.4	0.08968	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6459	0.34005	0.563:0.0:0.437:0.0	.	.	.	.	X	476	.	ENSP00000305465:Y476X	Y	-	3	2	PDILT	20279469	0.096000	0.21769	0.003000	0.11579	0.037000	0.13140	-0.186000	0.09670	-0.288000	0.09051	-0.297000	0.09499	TAT		0.488	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		T	20371968	A	T	20371968	4	4	162	1	0	0	0	0	0	1	0	0	11674	456	16	5	334	5	PDILT	16	20371968	Nonsense_Mutation	SNP	A	TCGA-20-1682-01A-01W-0633-09	1135858	20371968	69982785	55	9097											
TCF25	22980	genome.wustl.edu	37	16	89965209	89965209	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr16:89965209C>G	ENST00000263346.8	+	11	1206	c.1150C>G	c.(1150-1152)Ctg>Gtg	p.L384V	TCF25_ENST00000263347.7_Missense_Mutation_p.L149V	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	384					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTGCATGCTGCTGCTCATCGA	0.657																																																0			16											68	64	65					16																	89965209		2198	4300	6498	88492710	SO:0001583	missense	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1150C>G	16.37:g.89965209C>G	ENSP00000263346:p.Leu384Val		88492710	Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019761	0.75275	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	T;T	0.80653	-1.4;-1.4	5.63	4.68	0.58851	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.91499	0.7316	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93166	0.6562	10	0.87932	D	0	.	13.5124	0.61519	0.0:0.925:0.0:0.075	.	149;384	Q9H384;Q9BQ70	.;TCF25_HUMAN	V	384;149	ENSP00000263346:L384V;ENSP00000263347:L149V	ENSP00000263346:L384V	L	+	1	2	TCF25	88492710	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	2.236000	0.43052	1.371000	0.46172	0.561000	0.74099	CTG		0.657	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		G	89965209	C	G	89965209	3	3	162	1	0	0	0	0	1	0	0	0	15693	796	28	3	1192	3	TCF25	16	89965209	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	69593241	89965209	389544	56	9098											
TP53	7157	genome.wustl.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr17:7577105G>A	ENST00000269305.4	-	8	1022	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000420246.2_Missense_Mutation_p.P278L|TP53_ENST00000445888.2_Missense_Mutation_p.P278L|TP53_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000413465.2_Intron	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTCTCTCCCAGGACAGGCACA	0.552		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"	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	17	GRCh37	CM961376	TP53	M							72	63	66					17																	7577105		2203	4300	6503	7517830	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.833C>T	17.37:g.7577105G>A	ENSP00000269305:p.Pro278Leu		7517830	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	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814432	0.90790	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	N	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	278;278;278;278;278;267;146	ENSP00000352610:P278L;ENSP00000269305:P278L;ENSP00000398846:P278L;ENSP00000391127:P278L;ENSP00000391478:P278L;ENSP00000425104:P146L	ENSP00000269305:P278L	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577105	G	A	7577105	3	1	162	1	0	0	0	0	1	0	0	0	16381	1000	35	2	453	2	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		7577105	73618105	57	9099											
LLGL1	3996	genome.wustl.edu	37	17	18141444	18141444	+	Silent	SNP	C	C	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr17:18141444C>T	ENST00000316843.4	+	15	2064	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	656					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TGAAGTCTCTCAAGAAGTCAC	0.607																																																0			17											48	45	46					17																	18141444		2203	4300	6503	18082169	SO:0001819	synonymous_variant	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1968C>T	17.37:g.18141444C>T			18082169	A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	CCDS32586.1																																																																																				0.607	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			T	18141444	C	T	18141444	2	4	162	1	0	0	0	0	0	0	0	1	8833	813	29	2		2	LLGL1	17	18141444	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09	10564339	18141444	63053766	58	9100											
SLC47A1	55244	genome.wustl.edu	37	17	19480786	19480786	+	Silent	SNP	C	C	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr17:19480786C>A	ENST00000270570.4	+	17	1719	c.1633C>A	c.(1633-1635)Cgg>Agg	p.R545R	AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000571335.1_Silent_p.R291R|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Silent_p.R545R|SLC47A1_ENST00000575023.1_Silent_p.R243R|SLC47A1_ENST00000457293.1_Silent_p.R545R|SLC47A1_ENST00000436810.2_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	545					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GCTGGTGCTGCGGCGAGGGCT	0.522																																																0			17											140	147	145					17																	19480786		2203	4300	6503	19421378	SO:0001819	synonymous_variant	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1633C>A	17.37:g.19480786C>A			19421378	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	CCDS11209.1																																																																																				0.522	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		A	19480786	C	A	19480786	2	1	162	1	0	0	0	0	0	0	0	1	14650	759	27	3		3	SLC47A1	17	19480786	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09	1339342	19480786	61714424	59	9101											
SUZ12	23512	genome.wustl.edu	37	17	30322729	30322729	+	Missense_Mutation	SNP	T	T	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr17:30322729T>A	ENST00000322652.5	+	14	1971	c.1742T>A	c.(1741-1743)gTa>gAa	p.V581E	SUZ12_ENST00000580398.1_Missense_Mutation_p.V558E	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	581	VEFS-box.				histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GAAATGGAAGTAGATAGTGAA	0.353			T	JAZF1	endometrial stromal tumours																																		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0			17											79	74	76					17																	30322729		2203	4300	6503	27346842	SO:0001583	missense	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1742T>A	17.37:g.30322729T>A	ENSP00000316578:p.Val581Glu		27346842	Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	t	12.20	1.867833	0.32977	.	.	ENSG00000178691	ENST00000322652	T	0.41758	0.99	4.96	4.96	0.65561	Polycomb protein, VEFS-Box (1);	0.118831	0.56097	D	0.000033	T	0.35885	0.0947	L	0.49350	1.555	0.58432	D	0.999992	B;B	0.15141	0.012;0.01	B;B	0.19666	0.011;0.026	T	0.18304	-1.0341	10	0.07644	T	0.81	-8.1993	14.6107	0.68514	0.0:0.0:0.0:1.0	.	581;581	A8K1U9;Q15022	.;SUZ12_HUMAN	E	581	ENSP00000316578:V581E	ENSP00000316578:V581E	V	+	2	0	SUZ12	27346842	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.005000	0.57075	1.835000	0.53391	0.379000	0.24179	GTA		0.353	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		A	30322729	T	A	30322729	3	1	162	1	0	0	0	0	1	0	0	0	15416	1638	57	5	1796	5	SUZ12	17	30322729	Missense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09	10841943	30322729	50872481	60	9102											
CD300LG	146894	genome.wustl.edu	37	17	41926033	41926033	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr17:41926033T>C	ENST00000317310.4	+	2	192	c.151T>C	c.(151-153)Tgc>Cgc	p.C51R	CD300LG_ENST00000539718.1_Missense_Mutation_p.C51R|CD300LG_ENST00000586233.1_Missense_Mutation_p.C51R|CD300LG_ENST00000293396.8_Missense_Mutation_p.C51R|CD300LG_ENST00000377203.4_Missense_Mutation_p.C51R|CD300LG_ENST00000588884.1_Missense_Mutation_p.C51R	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	51	Ig-like V-type.				immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAAGTACTGGTGCAGGAAGGG	0.592																																																0			17											89	74	79					17																	41926033		2203	4300	6503	39281559	SO:0001583	missense	146894			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.151T>C	17.37:g.41926033T>C	ENSP00000321005:p.Cys51Arg		39281559	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.655226	0.29425	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.89	3.79	0.43588	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000209	D	0.82563	0.5064	H	0.95260	3.645	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0	D	0.83416	0.0030	10	0.87932	D	0	.	8.0548	0.30598	0.1808:0.0:0.0:0.8192	.	51;51;51;51;51;51	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	R	51	ENSP00000321005:C51R;ENSP00000442368:C51R;ENSP00000366408:C51R;ENSP00000293396:C51R	ENSP00000293396:C51R	C	+	1	0	CD300LG	39281559	1.000000	0.71417	0.996000	0.52242	0.005000	0.04900	4.250000	0.58772	0.793000	0.33875	-0.333000	0.08304	TGC		0.592	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		C	41926033	T	C	41926033	3	2	162	1	0	0	0	0	1	0	0	0	3002	1696	59	4	157	4	CD300LG	17	41926033	Missense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09	11603304	41926033	39269177	61	9103											
VPS4B	9525	genome.wustl.edu	37	18	61078732	61078732	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr18:61078732T>C	ENST00000238497.5	-	2	310	c.107A>G	c.(106-108)cAt>cGt	p.H36R	VPS4B_ENST00000591519.1_Missense_Mutation_p.H36R	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	36	MIT.				ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CTGCACAGCATGCTGATAGAG	0.383																																																0			18											111	104	106					18																	61078732		2203	4300	6503	59229712	SO:0001583	missense	9525			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.107A>G	18.37:g.61078732T>C	ENSP00000238497:p.His36Arg		59229712	Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033732	0.54896	.	.	ENSG00000119541	ENST00000238497	T	0.69561	-0.41	6.06	6.06	0.98353	MIT (2);	0.423315	0.28398	N	0.015492	T	0.69433	0.3110	M	0.63428	1.95	0.58432	D	0.999993	B;B	0.20164	0.042;0.012	B;B	0.32980	0.156;0.156	T	0.65467	-0.6161	10	0.41790	T	0.15	-19.6888	16.286	0.82722	0.0:0.0:0.0:1.0	.	36;36	A8K4G7;O75351	.;VPS4B_HUMAN	R	36	ENSP00000238497:H36R	ENSP00000238497:H36R	H	-	2	0	VPS4B	59229712	1.000000	0.71417	0.981000	0.43875	0.906000	0.53458	4.884000	0.63135	2.323000	0.78572	0.528000	0.53228	CAT		0.383	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		C	61078732	T	C	61078732	3	2	162	1	0	0	0	0	1	0	0	0	17213	1464	51	4	1267	4	VPS4B	18	61078732	Missense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09		61078732	16998516	62	9104											
ZNF564	163050	genome.wustl.edu	37	19	12638047	12638047	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr19:12638047G>C	ENST00000339282.7	-	4	1071	c.875C>G	c.(874-876)tCt>tGt	p.S292C	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR|CTD-2192J16.21_ENST00000601420.1_RNA	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ATTTGTGAAAGAAATGAAGGC	0.398																																																0			19											52	57	55					19																	12638047		2129	4258	6387	12499047	SO:0001583	missense	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.875C>G	19.37:g.12638047G>C	ENSP00000340004:p.Ser292Cys		12499047	B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259436	0.23051	.	.	ENSG00000249709	ENST00000339282	T	0.08282	3.11	1.96	-3.93	0.04143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	L	0.46947	1.48	0.09310	N	1	B	0.18310	0.027	B	0.27715	0.082	T	0.41360	-0.9513	9	0.36615	T	0.2	.	1.8934	0.03252	0.1056:0.2968:0.2401:0.3575	.	292	Q8TBZ8	ZN564_HUMAN	C	292	ENSP00000340004:S292C	ENSP00000340004:S292C	S	-	2	0	ZNF564	12499047	0.000000	0.05858	0.000000	0.03702	0.977000	0.68977	-2.757000	0.00788	-1.555000	0.01697	0.643000	0.83706	TCT		0.398	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		C	12638047	G	C	12638047	3	2	162	1	0	0	0	0	1	0	0	0	17995	942	33	3	790	3	ZNF564	19	12638047	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		12638047	46490936	63	9105											
EMR2	30817	genome.wustl.edu	37	19	14862249	14862249	+	Splice_Site	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr19:14862249G>A	ENST00000315576.3	-	16	2474	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	EMR2_ENST00000601345.1_Splice_Site_p.R664C|EMR2_ENST00000353876.1_Splice_Site_p.R582C|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000346057.1_Splice_Site_p.R626C|EMR2_ENST00000594294.1_Splice_Site_p.R626C|EMR2_ENST00000595839.1_Splice_Site_p.R533C|EMR2_ENST00000392967.2_Splice_Site_p.R664C|EMR2_ENST00000392965.3_Splice_Site_p.R617C|EMR2_ENST00000353005.1_Splice_Site_p.R533C|EMR2_ENST00000594076.1_Splice_Site_p.R582C|EMR2_ENST00000596991.2_Splice_Site_p.R664C	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	675					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGCACTAACCGGGAAGGTGTT	0.468																																																0			19											83	80	81					19																	14862249		2203	4300	6503	14723249	SO:0001630	splice_region_variant	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.2024+1C>T	19.37:g.14862249G>A			14723249	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353200	0.41700	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	4.25	0.317	0.15861	GPCR, family 2-like (1);	.	.	.	.	T	0.57975	0.2090	M	0.83603	2.65	0.19775	N	0.99995	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;1.0;1.0;0.998	D;P;D;D;D;D;D;P	0.76575	0.978;0.886;0.988;0.931;0.921;0.969;0.953;0.886	T	0.47195	-0.9136	9	0.40728	T	0.16	.	10.0239	0.42059	0.0:0.0:0.4906:0.5094	.	617;582;675;533;626;675;675;664	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	C	675;664;626;582;533;617	ENSP00000319883:R675C;ENSP00000376694:R664C;ENSP00000263380:R626C;ENSP00000319454:R582C;ENSP00000319838:R533C;ENSP00000376692:R617C	ENSP00000319883:R675C	R	-	1	0	EMR2	14723249	0.048000	0.20356	0.001000	0.08648	0.002000	0.02628	0.221000	0.17680	0.311000	0.23014	0.514000	0.50259	CGC		0.468	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		Missense_Mutation	A	14862249	G	A	14862249	5	1	162	1	0	0	0	0	0	0	1	0	5105	1130	39	1	472	1	EMR2	19	14862249	Splice_Site	SNP	G	TCGA-20-1682-01A-01W-0633-09	2224202	14862249	44266734	64	9106											
RHPN2	85415	genome.wustl.edu	37	19	33512482	33512482	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr19:33512482G>A	ENST00000254260.3	-	4	420	c.385C>T	c.(385-387)Ctc>Ttc	p.L129F	RHPN2_ENST00000400226.4_Intron	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	129	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TTTACCTTGAGGACGACTGCA	0.478																																																0			19											115	85	95					19																	33512482		2203	4300	6503	38204322	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.385C>T	19.37:g.33512482G>A	ENSP00000254260:p.Leu129Phe		38204322	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	7.455	0.643457	0.14451	.	.	ENSG00000131941	ENST00000254260	T	0.34072	1.38	4.02	2.98	0.34508	BRO1 domain (3);	0.186958	0.47093	N	0.000260	T	0.24774	0.0601	L	0.38838	1.175	0.80722	D	1	B	0.19817	0.039	B	0.25140	0.058	T	0.04607	-1.0939	10	0.17369	T	0.5	-0.0062	7.4011	0.26965	0.2055:0.0:0.7945:0.0	.	129	Q8IUC4	RHPN2_HUMAN	F	129	ENSP00000254260:L129F	ENSP00000254260:L129F	L	-	1	0	RHPN2	38204322	1.000000	0.71417	0.914000	0.36105	0.824000	0.46624	3.797000	0.55514	0.878000	0.35920	0.557000	0.71058	CTC		0.478	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		A	33512482	G	A	33512482	3	1	162	1	0	0	0	0	1	0	0	0	13354	1000	35	2	1723	2	RHPN2	19	33512482	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	18650233	33512482	25616501	65	9107											
CCDC155	147872	genome.wustl.edu	37	19	49910167	49910167	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr19:49910167G>A	ENST00000447857.3	+	10	1028	c.823G>A	c.(823-825)Gat>Aat	p.D275N		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	275						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TGCCGAGCGGGATGGAGTGAA	0.507																																																0			19											51	55	53					19																	49910167		1964	4153	6117	54601979	SO:0001583	missense	147872				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.823G>A	19.37:g.49910167G>A	ENSP00000404220:p.Asp275Asn		54601979	Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278214	0.80692	.	.	ENSG00000161609	ENST00000447857	T	0.37915	1.17	5.29	5.29	0.74685	.	0.464615	0.23782	N	0.044617	T	0.52933	0.1765	M	0.70595	2.14	0.29177	N	0.876757	P;D	0.57257	0.944;0.979	P;P	0.56563	0.602;0.801	T	0.52997	-0.8500	10	0.45353	T	0.12	-28.6382	14.8608	0.70379	0.0:0.0:1.0:0.0	.	275;275	C9JGW3;Q8N6L0	.;CC155_HUMAN	N	275	ENSP00000404220:D275N	ENSP00000404220:D275N	D	+	1	0	CCDC155	54601979	0.985000	0.35326	0.974000	0.42286	0.719000	0.41307	3.166000	0.50785	2.675000	0.91044	0.650000	0.86243	GAT		0.507	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		A	49910167	G	A	49910167	3	1	162	1	0	0	0	0	1	0	0	0	2788	1174	41	2	857	2	CCDC155	19	49910167	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	16397685	49910167	9218816	66	9108											
GPR32	2854	genome.wustl.edu	37	19	51274863	51274863	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr19:51274863G>T	ENST00000270590.4	+	1	1143	c.1006G>T	c.(1006-1008)Gcg>Tcg	p.A336S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	336					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTCTGCCCTGGCGAGGGCGTT	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)											0			19											65	70	68					19																	51274863		2203	4300	6503	55966675	SO:0001583	missense	2854			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.1006G>T	19.37:g.51274863G>T	ENSP00000270590:p.Ala336Ser		55966675	Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101039	0.37048	.	.	ENSG00000142511	ENST00000270590	T	0.29142	1.58	2.71	1.64	0.23874	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.22996	N	0.998455	P	0.34757	0.467	B	0.35312	0.2	T	0.16988	-1.0384	9	0.54805	T	0.06	.	7.7068	0.28655	0.1427:0.0:0.8573:0.0	.	336	O75388	GPR32_HUMAN	S	336	ENSP00000270590:A336S	ENSP00000270590:A336S	A	+	1	0	GPR32	55966675	1.000000	0.71417	0.237000	0.24090	0.739000	0.42172	5.575000	0.67430	0.411000	0.25702	0.313000	0.20887	GCG		0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			T	51274863	G	T	51274863	3	4	162	1	0	0	0	0	1	0	0	0	6688	1203	42	3	1008	3	GPR32	19	51274863	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09	1364696	51274863	7854120	67	9109											
EPB41L1	2036	genome.wustl.edu	37	20	34782204	34782204	+	Silent	SNP	G	G	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr20:34782204G>A	ENST00000338074.2	+	12	1532	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	EPB41L1_ENST00000373950.2_Silent_p.E360E|EPB41L1_ENST00000441639.1_Silent_p.E395E|EPB41L1_ENST00000373946.3_Silent_p.E426E|EPB41L1_ENST00000373941.1_Silent_p.E457E|EPB41L1_ENST00000202028.5_Silent_p.E395E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	457					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGCGGGATGAGGATGGCGAGT	0.592																																																0			20											71	53	59					20																	34782204		2203	4300	6503	34245618	SO:0001819	synonymous_variant	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1371G>A	20.37:g.34782204G>A			34245618	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	9.856	1.194963	0.22037	.	.	ENSG00000088367	ENST00000451082	.	.	.	5.49	0.685	0.18009	.	.	.	.	.	T	0.43322	0.1242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22626	-1.0211	4	.	.	.	.	2.8581	0.05578	0.2396:0.1208:0.5094:0.1302	.	.	.	.	K	35	.	.	R	+	2	0	EPB41L1	34245618	0.998000	0.40836	0.995000	0.50966	0.962000	0.63368	0.356000	0.20181	0.254000	0.21573	0.655000	0.94253	AGG		0.592	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		A	34782204	G	A	34782204	2	1	162	1	0	0	0	0	0	0	0	1	5152	991	35	2		2	EPB41L1	20	34782204	Silent	SNP	G	TCGA-20-1682-01A-01W-0633-09		34782204	28243316	68	9110											
ADNP	23394	genome.wustl.edu	37	20	49510649	49510649	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr20:49510649C>G	ENST00000396029.3	-	5	1169	c.602G>C	c.(601-603)gGa>gCa	p.G201A	ADNP_ENST00000396032.3_Missense_Mutation_p.G201A|ADNP_ENST00000349014.3_Missense_Mutation_p.G201A|ADNP_ENST00000371602.4_Missense_Mutation_p.G201A	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	201					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TGATTTTTCTCCTGCCTTTGC	0.448																																																0			20											125	122	123					20																	49510649		2203	4300	6503	48944056	SO:0001583	missense	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.602G>C	20.37:g.49510649C>G	ENSP00000379346:p.Gly201Ala		48944056	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759230	0.49468	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	6.08	6.08	0.98989	.	0.095560	0.64402	D	0.000001	T	0.63663	0.2530	L	0.40543	1.245	0.58432	D	0.999999	P	0.48503	0.911	B	0.39185	0.293	T	0.60541	-0.7243	10	0.21014	T	0.42	-8.0783	20.6634	0.99662	0.0:1.0:0.0:0.0	.	201	Q9H2P0	ADNP_HUMAN	A	201	ENSP00000360662:G201A;ENSP00000342905:G201A;ENSP00000379346:G201A;ENSP00000379349:G201A	ENSP00000342905:G201A	G	-	2	0	ADNP	48944056	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.707000	0.68370	2.894000	0.99253	0.655000	0.94253	GGA		0.448	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		G	49510649	C	G	49510649	3	3	162	1	0	0	0	0	1	0	0	0	323	855	30	3	2710	3	ADNP	20	49510649	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	14728445	49510649	13514871	69	9111											
BACE2	25825	genome.wustl.edu	37	21	42647522	42647522	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr21:42647522T>C	ENST00000330333.6	+	9	1991	c.1528T>C	c.(1528-1530)Tcc>Ccc	p.S510P	BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.5_Missense_Mutation_p.S460P|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	510					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CAATGATGAGTCCTCTCTGGT	0.552																																																0			21											127	106	113					21																	42647522		2203	4300	6503	41569392	SO:0001583	missense	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1528T>C	21.37:g.42647522T>C	ENSP00000332979:p.Ser510Pro		41569392	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845153	0.91197	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000544566	T;T	0.60797	0.21;0.16	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.68754	-0.5325	10	0.54805	T	0.06	.	14.8212	0.70074	0.0:0.0:0.0:1.0	.	460;510	Q9Y5Z0-2;Q9Y5Z0	.;BACE2_HUMAN	P	510;460;415	ENSP00000332979:S510P;ENSP00000327528:S460P	ENSP00000332979:S510P	S	+	1	0	BACE2	41569392	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.344000	0.72991	2.097000	0.63578	0.529000	0.55759	TCC		0.552	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			C	42647522	T	C	42647522	3	2	162	1	0	0	0	0	1	0	0	0	1282	1667	58	4	1562	4	BACE2	21	42647522	Missense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09		42647522	5482373	70	9112											
PEX26	55670	genome.wustl.edu	37	22	18567998	18567998	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chr22:18567998G>T	ENST00000329627.7	+	5	994	c.788G>T	c.(787-789)tGt>tTt	p.C263F	PEX26_ENST00000428061.2_Intron|PEX26_ENST00000399744.3_Missense_Mutation_p.C263F	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	263					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTGATCCTCTGTCTCCTGGTG	0.567																																																0			22											100	93	95					22																	18567998		2203	4300	6503	16947998	SO:0001583	missense	55670			AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"peroxisome biogenesis factor 26"			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.788G>T	22.37:g.18567998G>T	ENSP00000331106:p.Cys263Phe		16947998	F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080599	0.55753	.	.	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000399746	D;D	0.93811	-3.29;-3.29	5.77	5.77	0.91146	.	0.175224	0.39020	U	0.001500	D	0.93979	0.8072	M	0.68317	2.08	0.80722	D	1	D	0.56746	0.977	P	0.54544	0.755	D	0.92253	0.5810	10	0.34782	T	0.22	-10.2298	10.2635	0.43441	0.0934:0.0:0.9066:0.0	.	263	Q7Z412	PEX26_HUMAN	F	263	ENSP00000331106:C263F;ENSP00000382648:C263F	ENSP00000331106:C263F	C	+	2	0	PEX26	16947998	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.119000	0.50422	2.732000	0.93576	0.655000	0.94253	TGT		0.567	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929		T	18567998	G	T	18567998	3	4	162	1	0	0	0	0	1	0	0	0	11746	1377	48	3	802	3	PEX26	22	18567998	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		18567998	32736568	71	9113											
IL1RAPL1	11141	genome.wustl.edu	37	X	29938193	29938193	+	Missense_Mutation	SNP	G	G	A	rs200419221		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chrX:29938193G>A	ENST00000378993.1	+	8	1712	c.1039G>A	c.(1039-1041)Gtt>Att	p.V347I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.V347I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	347	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACACGCCAGCGTTCTCCTTCA	0.413																																																0			X											121	97	105					X																	29938193		2202	4300	6502	29848114	SO:0001583	missense	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1039G>A	X.37:g.29938193G>A	ENSP00000368278:p.Val347Ile		29848114	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	8.206	0.799275	0.16397	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.67865	-0.29;-0.29	6.03	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.256486	0.39544	N	0.001326	T	0.45994	0.1370	N	0.16266	0.395	0.30919	N	0.728182	B	0.10296	0.003	B	0.15484	0.013	T	0.40136	-0.9579	9	.	.	.	.	8.2191	0.31530	0.3543:0.0:0.6457:0.0	.	347	Q9NZN1	IRPL1_HUMAN	I	347	ENSP00000368278:V347I;ENSP00000305200:V347I	.	V	+	1	0	IL1RAPL1	29848114	0.959000	0.32827	0.972000	0.41901	0.954000	0.61252	1.646000	0.37249	0.594000	0.29761	0.523000	0.50628	GTT		0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		A	29938193	G	A	29938193	3	1	162	1	0	0	0	0	1	0	0	0	7661	1145	40	1	1065	1	IL1RAPL1	23	29938193	Missense_Mutation	SNP	G	TCGA-20-1682-01A-01W-0633-09		29938193	125332367	72	9114											
POU3F4	5456	genome.wustl.edu	37	X	82763382	82763382	+	Missense_Mutation	SNP	T	T	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chrX:82763382T>A	ENST00000373200.2	+	1	114	c.50T>A	c.(49-51)cTa>cAa	p.L17Q	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	17					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TCCACCTCCCTAGTCCATGCG	0.547																																																0			X											63	46	52					X																	82763382		2203	4300	6503	82650038	SO:0001583	missense	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.50T>A	X.37:g.82763382T>A	ENSP00000362296:p.Leu17Gln		82650038	B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815334	0.32053	.	.	ENSG00000196767	ENST00000373200	D	0.86097	-2.07	4.46	4.46	0.54185	.	0.206066	0.39687	N	0.001288	T	0.76047	0.3933	L	0.39898	1.24	0.37819	D	0.928306	P	0.44006	0.824	B	0.36719	0.231	T	0.79127	-0.1931	10	0.51188	T	0.08	.	8.8238	0.35043	0.0:0.0:0.1869:0.8131	.	17	P49335	PO3F4_HUMAN	Q	17	ENSP00000362296:L17Q	ENSP00000362296:L17Q	L	+	2	0	POU3F4	82650038	1.000000	0.71417	0.778000	0.31720	0.962000	0.63368	4.927000	0.63440	1.753000	0.51906	0.483000	0.47432	CTA		0.547	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		A	82763382	T	A	82763382	3	1	162	1	0	0	0	0	1	0	0	0	12277	1522	53	5	52	5	POU3F4	23	82763382	Missense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09	52825189	82763382	72507178	73	9115											
NKRF	55922	genome.wustl.edu	37	X	118724128	118724128	+	Missense_Mutation	SNP	T	T	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chrX:118724128T>A	ENST00000371527.1	-	2	1912	c.1260A>T	c.(1258-1260)aaA>aaT	p.K420N	NKRF_ENST00000542113.1_Missense_Mutation_p.K435N|NKRF_ENST00000304449.5_Missense_Mutation_p.K420N|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	420					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ATTGTGAACTTTTGACAGATG	0.403																																																0			X											144	133	136					X																	118724128		2203	4300	6503	118608156	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1260A>T	X.37:g.118724128T>A	ENSP00000360582:p.Lys420Asn		118608156	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	6.984	0.551690	0.13374	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.48201	0.82;0.82;0.82	5.49	0.623	0.17654	.	0.346876	0.34025	N	0.004337	T	0.29126	0.0724	L	0.36672	1.1	0.32813	D	0.501728	P	0.34462	0.454	B	0.21360	0.034	T	0.32798	-0.9893	10	0.45353	T	0.12	-19.4285	8.6839	0.34225	0.0:0.3134:0.0:0.6866	.	420	O15226	NKRF_HUMAN	N	420;420;435	ENSP00000360582:K420N;ENSP00000304803:K420N;ENSP00000442308:K435N	ENSP00000304803:K420N	K	-	3	2	NKRF	118608156	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.515000	0.35845	0.249000	0.21456	0.486000	0.48141	AAA		0.403	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		A	118724128	T	A	118724128	3	1	162	1	0	0	0	0	1	0	0	0	10447	1838	64	5	816	5	NKRF	23	118724128	Missense_Mutation	SNP	T	TCGA-20-1682-01A-01W-0633-09	35960746	118724128	36546432	74	9116											
SH2D1A	4068	genome.wustl.edu	37	X	123504070	123504070	+	Silent	SNP	T	T	C			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chrX:123504070T>C	ENST00000371139.4	+	3	545	c.246T>C	c.(244-246)aaT>aaC	p.N82N	SH2D1A_ENST00000491950.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000360027.4_Silent_p.N82N|SH2D1A_ENST00000477673.2_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	82	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAATAAAAAATCTCATTTCAG	0.368																																																0			X											113	110	111					X																	123504070		2203	4300	6503	123331751	SO:0001819	synonymous_variant	4068			AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"SH2 domain containing"	10820	protein-coding gene	gene with protein product	"Duncan's disease"	300490	"lymphoproliferative syndrome", "SH2 domain protein 1A"	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.246T>C	X.37:g.123504070T>C			123331751	A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Silent	SNP	ENST00000371139.4	37	CCDS14608.1																																																																																				0.368	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		C	123504070	T	C	123504070	2	2	162	1	0	0	0	0	0	0	0	1	14233	1432	50	4		4	SH2D1A	23	123504070	Silent	SNP	T	TCGA-20-1682-01A-01W-0633-09	4779942	123504070	31766490	75	9117											
HTATSF1	27336	genome.wustl.edu	37	X	135593245	135593245	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chrX:135593245C>A	ENST00000218364.4	+	9	1515	c.1341C>A	c.(1339-1341)aaC>aaA	p.N447K	HTATSF1_ENST00000535601.1_Missense_Mutation_p.N447K	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	447	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGAAAACAATGCTAAGG	0.448																																																0			X											81	90	87					X																	135593245		2202	4298	6500	135420911	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1341C>A	X.37:g.135593245C>A	ENSP00000218364:p.Asn447Lys		135420911	D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.634384	0.00114	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.19806	2.12;2.12	5.59	-0.147	0.13428	.	0.602445	0.18811	N	0.130506	T	0.04407	0.0121	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33879	-0.9851	10	0.02654	T	1	-14.2566	1.321	0.02116	0.388:0.2559:0.0847:0.2715	.	447	O43719	HTSF1_HUMAN	K	447	ENSP00000442699:N447K;ENSP00000218364:N447K	ENSP00000218364:N447K	N	+	3	2	HTATSF1	135420911	0.000000	0.05858	0.003000	0.11579	0.167000	0.22549	-0.106000	0.10890	0.015000	0.14971	-0.480000	0.04831	AAC		0.448	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		A	135593245	C	A	135593245	3	1	162	1	0	0	0	0	1	0	0	0	7433	477	17	3	1375	3	HTATSF1	23	135593245	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	12089175	135593245	19677315	76	9118											
FMR1NB	158521	genome.wustl.edu	37	X	147063126	147063126	+	Silent	SNP	C	C	A			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chrX:147063126C>A	ENST00000370467.3	+	1	278	c.204C>A	c.(202-204)ccC>ccA	p.P68P		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	68						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCAAACCCTTTGGGATGC	0.587																																																0			X											132	122	126					X																	147063126		2203	4300	6503	146870818	SO:0001819	synonymous_variant	158521				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.204C>A	X.37:g.147063126C>A			146870818	D3DWT3	Silent	SNP	ENST00000370467.3	37	CCDS14683.1																																																																																				0.587	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		A	147063126	C	A	147063126	2	1	162	1	0	0	0	0	0	0	0	1	5961	668	24	3		3	FMR1NB	23	147063126	Silent	SNP	C	TCGA-20-1682-01A-01W-0633-09	11469881	147063126	8207434	77	9119											
GPR50	9248	genome.wustl.edu	37	X	150349106	150349106	+	Missense_Mutation	SNP	C	C	T	rs374706343		TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chrX:150349106C>T	ENST00000218316.3	+	2	1120	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	351	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACAAGACCGTGCCCATGC	0.607																																																0			X						C	CYS/ARG	7,3745		0,5,2,1586,568	101	106	104		1051	-2	0	X		104	0,6636		0,0,0,2405,1826	no	missense	GPR50	NM_004224.3	180	0,5,2,3991,2394	TT,TC,T,CC,C		0.0,0.1866,0.0674	possibly-damaging	351/618	150349106	7,10381	2161	4231	6392	150099764	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1051C>T	X.37:g.150349106C>T	ENSP00000218316:p.Arg351Cys		150099764	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	7.248	0.602558	0.13939	0.001866	0.0	ENSG00000102195	ENST00000218316	T	0.60424	0.19	3.32	-1.96	0.07525	.	1.144850	0.06719	N	0.774538	T	0.34687	0.0906	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16041	-1.0416	10	0.45353	T	0.12	1.2454	3.2061	0.06666	0.313:0.3718:0.0:0.3153	.	351	Q13585	MTR1L_HUMAN	C	351	ENSP00000218316:R351C	ENSP00000218316:R351C	R	+	1	0	GPR50	150099764	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.502000	0.06390	-0.546000	0.06216	-1.254000	0.01491	CGT		0.607	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		T	150349106	C	T	150349106	3	4	162	1	0	0	0	0	1	0	0	0	6697	652	23	1	1057	1	GPR50	23	150349106	Missense_Mutation	SNP	C	TCGA-20-1682-01A-01W-0633-09	3285980	150349106	4921454	78	9120											
PLXNA3	55558	genome.wustl.edu	37	X	153697233	153697245	+	Frame_Shift_Del	DEL	TTGATGCCATCAC	TTGATGCCATCAC	-			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	TTGATGCCATCAC	TTGATGCCATCAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chrX:153697233_153697245delTTGATGCCATCAC	ENST00000369682.3	+	25	4530_4542	c.4355_4367delTTGATGCCATCAC	c.(4354-4368)attgatgccatcacgfs	p.IDAIT1452fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1452					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGGCCCCATTGATGCCATCACGGGCGAGGCA	0.62																																																0			X																																								153350439	SO:0001589	frameshift_variant	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4355_4367delTTGATGCCATCAC	X.37:g.153697233_153697245delTTGATGCCATCAC	ENSP00000358696:p.Ile1452fs		153350427	Q5HY36	Frame_Shift_Del	DEL	ENST00000369682.3	37	CCDS14752.1																																																																																				0.62	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		-	153697245	TTGATGCCATCAC	-	153697233	7	5	162	1	0	1	0	1	0	0	0	0	12121	1493	52	0	4449	0	PLXNA3	23	153697233	Frame_Shift_Del	DEL	TTGATGCCATCAC	TCGA-20-1682-01A-01W-0633-09	3348127	153697233	1573327	79	9121											
PLXNA3	55558	genome.wustl.edu	37	X	153699662	153699676	+	Splice_Site	DEL	TGGGCTCCGCCCTGC	TGGGCTCCGCCCTGC	-			TCGA-20-1682-01A-01W-0633-09	TCGA-20-1682-10A-01W-0633-09	TGGGCTCCGCCCTGC	TGGGCTCCGCCCTGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1a77c0cf-43c2-409b-81db-a8091e3ebfe0	86334b20-a70a-4a78-8fef-3f98c25e3197	g.chrX:153699662_153699676delTGGGCTCCGCCCTGC	ENST00000369682.3	+	31	5544		c.e31+2			NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3						axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGGAGAGGTGGGCTCCGCCCTGCTGTGGGTGGC	0.674																																																0			X																																								153352870	SO:0001630	splice_region_variant	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5369+2TGGGCTCCGCCCTGC>-	X.37:g.153699662_153699676delTGGGCTCCGCCCTGC			153352856	Q5HY36	Splice_Site	DEL	ENST00000369682.3	37	CCDS14752.1																																																																																				0.674	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	Intron	-	153699676	TGGGCTCCGCCCTGC	-	153699662	8	5	162	1	0	1	0	1	0	0	1	0	12121	1710	59	0	5489	0	PLXNA3	23	153699662	Splice_Site	DEL	TGGGCTCCGCCCTGC	TCGA-20-1682-01A-01W-0633-09	2429	153699662	1570898	80	9122											
FOXJ3	22887	genome.wustl.edu	37	1	42657165	42657165	+	Missense_Mutation	SNP	G	G	A	rs377432876		TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:42657165G>A	ENST00000372572.1	-	11	1471	c.1160C>T	c.(1159-1161)cCg>cTg	p.P387L	FOXJ3_ENST00000361776.1_Missense_Mutation_p.P353L|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P387L|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P387L|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P387L|FOXJ3_ENST00000372571.1_5'Flank	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	387					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAAACCATGCGGTCGATGGGG	0.612																																																0			1						G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	417	328	358		1160,1160,1058,1160	5.3	1	1		358	0,8600		0,0,4300	no	missense,missense,missense,missense	FOXJ3	NM_001198850.1,NM_001198851.1,NM_001198852.1,NM_014947.4	98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	387/623,387/623,353/589,387/623	42657165	1,13005	2203	4300	6503	42429752	SO:0001583	missense	22887			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1160C>T	1.37:g.42657165G>A	ENSP00000361653:p.Pro387Leu		42429752	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783635	0.49891	2.27E-4	0.0	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.31	5.31	0.75309	.	0.533478	0.14149	N	0.338140	T	0.25680	0.0625	N	0.08118	0	0.58432	D	0.999991	P;P	0.46327	0.876;0.804	B;B	0.34242	0.178;0.086	T	0.16129	-1.0413	10	0.66056	D	0.02	.	11.8657	0.52493	0.0:0.0:0.8254:0.1746	.	353;387	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	L	387;387;387;353;387;353	ENSP00000361654:P387L;ENSP00000361653:P387L;ENSP00000354620:P387L;ENSP00000354449:P353L;ENSP00000439044:P387L;ENSP00000393408:P353L	ENSP00000354620:P387L	P	-	2	0	FOXJ3	42429752	1.000000	0.71417	0.996000	0.52242	0.843000	0.47879	3.930000	0.56522	2.646000	0.89796	0.555000	0.69702	CCG		0.612	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		A	42657165	G	A	42657165	3	1	163	1	0	0	0	0	1	0	0	0	6013	1116	39	1	728	1	FOXJ3	1	42657165	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09		42657165	206593456	1	9123											
WDR65	149465	genome.wustl.edu	37	1	43675633	43675633	+	Intron	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:43675633C>T	ENST00000372492.4	+	11	2253				WDR65_ENST00000528956.1_Silent_p.L659L	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACCTGCCTGCTACGTGCCTT	0.502																																																0			1											242	218	226					1																	43675633		2203	4300	6503	43448220	SO:0001627	intron_variant	149465																														ENST00000372492.4:c.1929+46C>T	1.37:g.43675633C>T			43448220	A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37																																																																																					0.502	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			T	43675633	C	T	43675633	1	4	163	0	1	0	0	0	0	0	0	0	17316	796	28	2		2	WDR65	1	43675633	Intron	SNP	C	TCGA-20-1683-01A-01W-0633-09	1018468	43675633	205574988	2	9124											
LEPR	3953	genome.wustl.edu	37	1	66036369	66036369	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:66036369C>T	ENST00000349533.6	+	4	439	c.254C>T	c.(253-255)aCa>aTa	p.T85I	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.T85I|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371059.3_Missense_Mutation_p.T85I|LEPR_ENST00000344610.8_Missense_Mutation_p.T85I|LEPR_ENST00000371058.1_Missense_Mutation_p.T85I|LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTATCCAAAACAACTTTCCAC	0.358																																																0			1											95	94	94					1																	66036369		2203	4300	6503	65808957	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.254C>T	1.37:g.66036369C>T	ENSP00000330393:p.Thr85Ile		65808957	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253396	0.39797	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.56444	0.48;0.48;0.49;0.46;0.48	5.69	4.71	0.59529	.	0.518149	0.23035	N	0.052695	T	0.48642	0.1511	M	0.69823	2.125	0.30152	N	0.80293	P;P;P;D	0.54964	0.919;0.911;0.887;0.969	B;B;P;P	0.51385	0.406;0.391;0.595;0.668	T	0.50915	-0.8771	10	0.59425	D	0.04	-6.462	10.1975	0.43062	0.2454:0.7546:0.0:0.0	.	85;85;85;85	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	I	85	ENSP00000340884:T85I;ENSP00000330393:T85I;ENSP00000360099:T85I;ENSP00000360098:T85I;ENSP00000360097:T85I	ENSP00000340884:T85I	T	+	2	0	LEPR	65808957	0.014000	0.17966	0.167000	0.22817	0.784000	0.44337	1.808000	0.38912	2.683000	0.91414	0.557000	0.71058	ACA		0.358	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		T	66036369	C	T	66036369	3	4	163	1	0	0	0	0	1	0	0	0	8728	478	17	2	260	2	LEPR	1	66036369	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	22360736	66036369	183214252	3	9125											
ABCA4	24	genome.wustl.edu	37	1	94497359	94497359	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:94497359C>T	ENST00000370225.3	-	27	4189	c.4103G>A	c.(4102-4104)cGc>cAc	p.R1368H		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1368					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTGTGGCTGCGGATGGTGTG	0.612																																																0			1											86	78	81					1																	94497359		2203	4300	6503	94269947	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4103G>A	1.37:g.94497359C>T	ENSP00000359245:p.Arg1368His		94269947	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330469	0.95733	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.93906	-3.31	5.78	5.78	0.91487	.	0.055384	0.64402	D	0.000003	D	0.97185	0.9080	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.97331	0.9950	10	0.87932	D	0	.	20.0044	0.97430	0.0:1.0:0.0:0.0	.	1368	P78363	ABCA4_HUMAN	H	160;1368	ENSP00000359245:R1368H	ENSP00000359245:R1368H	R	-	2	0	ABCA4	94269947	1.000000	0.71417	0.966000	0.40874	0.858000	0.48976	7.531000	0.81973	2.714000	0.92807	0.650000	0.86243	CGC		0.612	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94497359	C	T	94497359	3	4	163	1	0	0	0	0	1	0	0	0	34	768	27	1	2814	1	ABCA4	1	94497359	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	28460990	94497359	154753262	4	9126											
PTBP2	58155	genome.wustl.edu	37	1	97235312	97235312	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:97235312C>T	ENST00000426398.2	+	4	212	c.169C>T	c.(169-171)Cct>Tct	p.P57S	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.P68S|PTBP2_ENST00000609116.1_Missense_Mutation_p.P57S|PTBP2_ENST00000370198.1_Missense_Mutation_p.P57S|PTBP2_ENST00000541987.1_Missense_Mutation_p.P26S|PTBP2_ENST00000370197.1_Missense_Mutation_p.P57S	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	57					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GGATGGTGCTCCTTCTCGTGT	0.328																																																0			1											109	119	115					1																	97235312		2203	4300	6503	97007900	SO:0001583	missense	58155			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.169C>T	1.37:g.97235312C>T	ENSP00000412788:p.Pro57Ser		97007900	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624572	0.66901	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.80393	0.67;0.66;0.66;0.65;0.65;-1.37	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	M	0.82823	2.61	0.52501	D	0.999952	P;P;P;P;D;D;D	0.58970	0.837;0.455;0.59;0.934;0.961;0.961;0.984	P;B;B;P;D;D;P	0.64321	0.616;0.188;0.176;0.796;0.924;0.924;0.854	D	0.88566	0.3126	10	0.62326	D	0.03	-3.635	15.81	0.78552	0.0:0.8648:0.1352:0.0	.	65;68;57;57;57;57;79	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3;Q59G43	.;.;.;PTBP2_HUMAN;.;.;.	S	57;57;57;57;68;26;47	ENSP00000236228:P57S;ENSP00000359217:P57S;ENSP00000359216:P57S;ENSP00000412788:P57S;ENSP00000377738:P68S;ENSP00000442475:P26S	ENSP00000236228:P57S	P	+	1	0	PTBP2	97007900	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	5.883000	0.69721	2.820000	0.97059	0.650000	0.86243	CCT		0.328	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			T	97235312	C	T	97235312	3	4	163	1	0	0	0	0	1	0	0	0	12729	855	30	2	183	2	PTBP2	1	97235312	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	2737953	97235312	152015309	5	9127											
SELENBP1	8991	genome.wustl.edu	37	1	151339380	151339380	+	Splice_Site	SNP	C	C	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:151339380C>G	ENST00000368868.5	-	6	573	c.482G>C	c.(481-483)gGg>gCg	p.G161A	SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000426705.2_Splice_Site_p.G203A|SELENBP1_ENST00000447402.3_Splice_Site_p.G99A|SELENBP1_ENST00000435071.1_Splice_Site_p.G97A	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	161					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACAAAACCCCCTGAACAGGG	0.597																																																0			1											121	112	115					1																	151339380		2203	4300	6503	149606004	SO:0001630	splice_region_variant	8991			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.482-1G>C	1.37:g.151339380C>G			149606004	A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.701157|4.701157	0.88924|0.88924	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705|ENST00000424475	T;T;T;T;T|T	0.41758|0.39592	0.99;0.99;0.99;2.0;2.0|1.07	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.64605|0.64605	0.2613|0.2613	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.76494|.	0.999;0.998;0.998;0.998;0.999;0.994;0.998|.	D;D;D;D;D;P;D|.	0.79784|.	0.992;0.992;0.992;0.985;0.993;0.886;0.977|.	T|T	0.70905|0.70905	-0.4745|-0.4745	10|8	0.62326|0.62326	D|D	0.03|0.03	.|.	17.9421|17.9421	0.89028|0.89028	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	99;203;121;145;14;97;161|.	B4E1F3;A6PVW9;A6PVW8;A6PVX1;B4DPI7;Q13228-2;Q13228|.	.;.;.;.;.;.;SBP1_HUMAN|.	A|R	161;99;97;145;203|122	ENSP00000357861:G161A;ENSP00000413960:G99A;ENSP00000408263:G97A;ENSP00000406222:G145A;ENSP00000397261:G203A|ENSP00000396209:G122R	ENSP00000357861:G161A|ENSP00000396209:G122R	G|G	-|-	2|1	0|0	SELENBP1|SELENBP1	149606004|149606004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.736000|0.736000	0.42039|0.42039	5.779000|5.779000	0.68948|0.68948	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.597	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4		Missense_Mutation	G	151339380	C	G	151339380	5	3	163	1	0	0	0	0	0	0	1	0	14017	637	22	3	964	3	SELENBP1	1	151339380	Splice_Site	SNP	C	TCGA-20-1683-01A-01W-0633-09	54104068	151339380	97911241	6	9128											
S100A7A	338324	genome.wustl.edu	37	1	153391775	153391775	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:153391775G>T	ENST00000368729.4	+	3	353	c.296G>T	c.(295-297)gGa>gTa	p.G99V	S100A7A_ENST00000368728.2_Missense_Mutation_p.G99V|S100A7A_ENST00000329256.2_Missense_Mutation_p.G99V	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	99						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTTCTGGGGGAAGCCAGTGA	0.532																																																0			1											44	45	44					1																	153391775		2203	4300	6503	151658399	SO:0001583	missense	338324			AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.296G>T	1.37:g.153391775G>T	ENSP00000357718:p.Gly99Val		151658399	D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.425898	0.25726	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.10288	2.89;2.89;2.89	1.72	-3.38	0.04883	EF-hand-like domain (1);	.	.	.	.	T	0.03011	0.0089	M	0.72118	2.19	0.09310	N	0.999999	B	0.34200	0.441	B	0.24848	0.056	T	0.24225	-1.0166	9	0.72032	D	0.01	.	3.4584	0.07524	0.4971:0.2178:0.2851:0.0	.	99	Q86SG5	S1A7A_HUMAN	V	99	ENSP00000357718:G99V;ENSP00000357717:G99V;ENSP00000329008:G99V	ENSP00000329008:G99V	G	+	2	0	S100A7A	151658399	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.449000	0.06812	-1.100000	0.03030	-1.054000	0.02325	GGA		0.532	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		T	153391775	G	T	153391775	3	4	163	1	0	0	0	0	1	0	0	0	13787	1174	41	3	302	3	S100A7A	1	153391775	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	2052395	153391775	95858846	7	9129											
SPTA1	6708	genome.wustl.edu	37	1	158648266	158648266	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:158648266C>G	ENST00000368147.4	-	6	917	c.737G>C	c.(736-738)tGg>tCg	p.W246S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	246					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGGCGCTCCCAGGCAGCATT	0.448																																																0			1											89	84	86					1																	158648266		1874	4108	5982	156914890	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.737G>C	1.37:g.158648266C>G	ENSP00000357129:p.Trp246Ser		156914890	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867902	0.72065	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68903	-0.36;-0.36	4.66	4.66	0.58398	.	0.000000	0.30410	N	0.009696	D	0.84469	0.5479	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88332	0.2969	10	0.87932	D	0	.	16.6455	0.85176	0.0:1.0:0.0:0.0	.	246	P02549	SPTA1_HUMAN	S	246	ENSP00000357130:W246S;ENSP00000357129:W246S	ENSP00000357129:W246S	W	-	2	0	SPTA1	156914890	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	6.719000	0.74718	2.572000	0.86782	0.650000	0.86243	TGG		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158648266	C	G	158648266	3	3	163	1	0	0	0	0	1	0	0	0	15118	595	21	3	6710	3	SPTA1	1	158648266	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	5256491	158648266	90602355	8	9130											
TDRD5	163589	genome.wustl.edu	37	1	179620086	179620086	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:179620086G>A	ENST00000367614.1	+	12	2244	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	TDRD5_ENST00000444136.1_Missense_Mutation_p.D629N|TDRD5_ENST00000294848.8_Missense_Mutation_p.D629N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	629					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGAATATGTAGATGGAATCCT	0.413																																																0			1											203	190	194					1																	179620086		2203	4300	6503	177886709	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1885G>A	1.37:g.179620086G>A	ENSP00000356586:p.Asp629Asn		177886709	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174520	0.57692	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34275	2.59;2.59;2.77;1.37	5.91	5.91	0.95273	.	0.169864	0.51477	D	0.000083	T	0.34308	0.0893	L	0.46157	1.445	0.38931	D	0.957955	P;P	0.46859	0.885;0.671	P;B	0.44447	0.45;0.145	T	0.08700	-1.0709	10	0.28530	T	0.3	-9.1251	11.2155	0.48823	0.0828:0.0:0.9172:0.0	.	629;629	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	N	629;629;629;85	ENSP00000356586:D629N;ENSP00000294848:D629N;ENSP00000406052:D629N;ENSP00000410744:D85N	ENSP00000294848:D629N	D	+	1	0	TDRD5	177886709	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.899000	0.48679	2.793000	0.96121	0.655000	0.94253	GAT		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		A	179620086	G	A	179620086	3	1	163	1	0	0	0	0	1	0	0	0	15733	942	33	2	1927	2	TDRD5	1	179620086	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	20971820	179620086	69630535	9	9131											
ZP4	57829	genome.wustl.edu	37	1	238053399	238053399	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr1:238053399C>T	ENST00000366570.4	-	2	411	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	85					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCCAACACCACGGAGCTGCCT	0.567																																					NSCLC(166;160 2029 11600 18754 19936)											0			1											111	97	102					1																	238053399		2203	4300	6503	236120022	SO:0001583	missense	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.253G>A	1.37:g.238053399C>T	ENSP00000355529:p.Val85Met		236120022	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	9.959	1.222308	0.22457	.	.	ENSG00000116996	ENST00000366570	T	0.75260	-0.92	5.07	-7.63	0.01290	.	1.456490	0.04517	N	0.383857	T	0.43567	0.1253	N	0.17379	0.485	0.09310	N	1	P	0.40638	0.725	B	0.23574	0.047	T	0.49123	-0.8972	10	0.33940	T	0.23	-0.0087	2.6183	0.04909	0.0954:0.2256:0.2974:0.3816	.	85	Q12836	ZP4_HUMAN	M	85	ENSP00000355529:V85M	ENSP00000355529:V85M	V	-	1	0	ZP4	236120022	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.346000	0.00503	-1.598000	0.01607	0.655000	0.94253	GTG		0.567	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			T	238053399	C	T	238053399	3	4	163	1	0	0	0	0	1	0	0	0	18218	536	19	1	1413	1	ZP4	1	238053399	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	58433313	238053399	11197222	10	9132											
NBAS	51594	genome.wustl.edu	37	2	15359013	15359013	+	Missense_Mutation	SNP	G	G	C	rs553094685		TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr2:15359013G>C	ENST00000281513.5	-	48	6341	c.6316C>G	c.(6316-6318)Cgc>Ggc	p.R2106G	NBAS_ENST00000441750.1_Missense_Mutation_p.R1986G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2106					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACGTGAATGCGGGGCCGCACC	0.567																																																0			2											56	60	59					2																	15359013		2203	4300	6503	15276464	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6316C>G	2.37:g.15359013G>C	ENSP00000281513:p.Arg2106Gly		15276464	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371804	0.82573	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.55413	0.52;0.52	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.974	D;P	0.76071	0.987;0.578	T	0.72178	-0.4369	10	0.87932	D	0	.	13.6217	0.62140	0.0:0.0:0.8453:0.1547	.	1986;2106	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	G	1986;2106	ENSP00000413201:R1986G;ENSP00000281513:R2106G	ENSP00000281513:R2106G	R	-	1	0	NBAS	15276464	1.000000	0.71417	0.880000	0.34516	0.985000	0.73830	6.790000	0.75115	2.644000	0.89710	0.591000	0.81541	CGC		0.567	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		C	15359013	G	C	15359013	3	2	163	1	0	0	0	0	1	0	0	0	10186	1116	39	3	819	3	NBAS	2	15359013	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09		15359013	227840360	11	9133											
NBAS	51594	genome.wustl.edu	37	2	15468385	15468385	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr2:15468385G>C	ENST00000281513.5	-	37	4424	c.4399C>G	c.(4399-4401)Cta>Gta	p.L1467V	NBAS_ENST00000441750.1_Missense_Mutation_p.L1347V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1467					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGTTTCTCTAGATCTTCATTG	0.383																																																0			2											212	189	197					2																	15468385		2203	4300	6503	15385836	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4399C>G	2.37:g.15468385G>C	ENSP00000281513:p.Leu1467Val		15385836	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.011|0.011	-1.698389|-1.698389	0.00725|0.00725	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513	.|T;T	.|0.10288	.|2.89;3.09	5.45|5.45	2.62|2.62	0.31277|0.31277	.|.	.|0.147217	.|0.47093	.|N	.|0.000243	T|T	0.11410|0.11410	0.0278|0.0278	L|L	0.48362|0.48362	1.52|1.52	0.22918|0.22918	N|N	0.998564|0.998564	.|P;B	.|0.51653	.|0.947;0.284	.|P;B	.|0.48524	.|0.58;0.059	T|T	0.17319|0.17319	-1.0373|-1.0373	5|10	.|0.87932	.|D	.|0	.|.	2.149|2.149	0.03795|0.03795	0.1692:0.1562:0.513:0.1616|0.1692:0.1562:0.513:0.1616	.|.	.|1347;1467	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	M|V	514|1347;1467	.|ENSP00000413201:L1347V;ENSP00000281513:L1467V	.|ENSP00000281513:L1467V	I|L	-|-	3|1	3|2	NBAS|NBAS	15385836|15385836	0.149000|0.149000	0.22717|0.22717	0.067000|0.067000	0.19924|0.19924	0.007000|0.007000	0.05969|0.05969	0.383000|0.383000	0.20651|0.20651	0.773000|0.773000	0.33404|0.33404	0.655000|0.655000	0.94253|0.94253	ATC|CTA		0.383	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		C	15468385	G	C	15468385	3	2	163	1	0	0	0	0	1	0	0	0	10186	933	33	3	2780	3	NBAS	2	15468385	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	109372	15468385	227730988	12	9134											
ALK	238	genome.wustl.edu	37	2	29754909	29754909	+	Silent	SNP	A	A	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr2:29754909A>G	ENST00000389048.3	-	4	1932	c.1026T>C	c.(1024-1026)agT>agC	p.S342S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	342	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGCAGTGCTCACTGCTGCTCC	0.577			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0			2											133	116	122					2																	29754909		2203	4300	6503	29608413	SO:0001819	synonymous_variant	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1026T>C	2.37:g.29754909A>G			29608413	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																				0.577	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		G	29754909	A	G	29754909	2	3	163	1	0	0	0	0	0	0	0	1	525	156	6	4		4	ALK	2	29754909	Silent	SNP	A	TCGA-20-1683-01A-01W-0633-09	14286524	29754909	213444464	13	9135											
CCDC85A	114800	genome.wustl.edu	37	2	56611481	56611481	+	Silent	SNP	A	A	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr2:56611481A>T	ENST00000407595.2	+	6	2155	c.1653A>T	c.(1651-1653)ggA>ggT	p.G551G	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	551										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTACAAAGGACCAATGTGAG	0.423																																																0			2											94	93	93					2																	56611481		1968	4149	6117	56464985	SO:0001819	synonymous_variant	114800			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1653A>T	2.37:g.56611481A>T			56464985		Silent	SNP	ENST00000407595.2	37	CCDS46290.1																																																																																				0.423	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			T	56611481	A	T	56611481	2	4	163	1	0	0	0	0	0	0	0	1	2859	262	10	5		5	CCDC85A	2	56611481	Silent	SNP	A	TCGA-20-1683-01A-01W-0633-09	26856572	56611481	186587892	14	9136											
SCN3A	6328	genome.wustl.edu	37	2	165952035	165952035	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr2:165952035G>T	ENST00000360093.3	-	25	4908	c.4417C>A	c.(4417-4419)Cag>Aag	p.Q1473K	SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1473K|SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1424K|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1473					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTCTGCTGGTTGAAGTTA	0.338																																																0			2											98	97	97					2																	165952035		2203	4300	6503	165660281	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4417C>A	2.37:g.165952035G>T	ENSP00000353206:p.Gln1473Lys		165660281	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	19.34	3.808229	0.70797	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.97016	-4.21;-4.21;-4.21	5.25	5.25	0.73442	.	0.070869	0.56097	D	0.000040	D	0.97926	0.9318	M	0.74467	2.265	0.80722	D	1	P;P;B	0.52577	0.954;0.954;0.025	D;D;B	0.67900	0.954;0.954;0.146	D	0.98312	1.0524	10	0.87932	D	0	.	19.4069	0.94651	0.0:0.0:1.0:0.0	.	1424;1424;1473	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	K	1473;1473;1424	ENSP00000353206:Q1473K;ENSP00000283254:Q1473K;ENSP00000386726:Q1424K	ENSP00000283254:Q1473K	Q	-	1	0	SCN3A	165660281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.894000	0.99253	0.591000	0.81541	CAG		0.338	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		T	165952035	G	T	165952035	3	4	163	1	0	0	0	0	1	0	0	0	13921	1357	47	3	1601	3	SCN3A	2	165952035	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	109340554	165952035	77247338	15	9137											
FAM171B	165215	genome.wustl.edu	37	2	187615885	187615885	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr2:187615885C>G	ENST00000304698.5	+	5	952	c.749C>G	c.(748-750)cCt>cGt	p.P250R		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	250						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAATTGACTCCTCTTGCTGCA	0.308																																																0			2											104	117	112					2																	187615885		2203	4300	6503	187324130	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.749C>G	2.37:g.187615885C>G	ENSP00000304108:p.Pro250Arg		187324130	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324416	0.81580	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.64085	-0.08	5.53	5.53	0.82687	.	0.053942	0.85682	D	0.000000	T	0.79125	0.4393	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80908	-0.1172	10	0.87932	D	0	-17.6889	17.6355	0.88121	0.0:1.0:0.0:0.0	.	250;251	Q6P995;A8K122	F171B_HUMAN;.	R	250	ENSP00000304108:P250R	ENSP00000272804:P250R	P	+	2	0	FAM171B	187324130	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.148000	0.71788	2.611000	0.88343	0.609000	0.83330	CCT		0.308	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		G	187615885	C	G	187615885	3	3	163	1	0	0	0	0	1	0	0	0	5491	681	24	3	767	3	FAM171B	2	187615885	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	21663850	187615885	55583488	16	9138											
SCG2	7857	genome.wustl.edu	37	2	224462338	224462338	+	Missense_Mutation	SNP	T	T	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr2:224462338T>G	ENST00000305409.2	-	2	1895	c.1663A>C	c.(1663-1665)Agc>Cgc	p.S555R		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCTGAGAGCTGCCTTGATTC	0.512																																																0			2											106	101	103					2																	224462338		2203	4300	6503	224170582	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1663A>C	2.37:g.224462338T>G	ENSP00000304133:p.Ser555Arg		224170582	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380329	0.42207	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01725	4.67	5.77	0.606	0.17559	.	0.237443	0.41294	D	0.000920	T	0.02418	0.0074	L	0.36672	1.1	0.26960	N	0.965826	P	0.42203	0.773	P	0.45377	0.478	T	0.38001	-0.9681	10	0.66056	D	0.02	.	9.5712	0.39429	0.0:0.6848:0.0:0.3152	.	555	P13521	SCG2_HUMAN	R	555;415	ENSP00000304133:S555R	ENSP00000304133:S555R	S	-	1	0	SCG2	224170582	0.963000	0.33076	0.906000	0.35671	0.887000	0.51463	1.433000	0.34947	0.090000	0.17273	0.477000	0.44152	AGC		0.512	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		G	224462338	T	G	224462338	3	3	163	1	0	0	0	0	1	0	0	0	13894	1580	55	5	194	5	SCG2	2	224462338	Missense_Mutation	SNP	T	TCGA-20-1683-01A-01W-0633-09	36846453	224462338	18737035	17	9139											
TM4SF20	79853	genome.wustl.edu	37	2	228228471	228228471	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr2:228228471C>T	ENST00000304568.3	-	4	696	c.659G>A	c.(658-660)gGa>gAa	p.G220E		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTTAGAGACTCCACACAGACA	0.378																																																0			2											112	116	114					2																	228228471		2203	4300	6503	227936715	SO:0001583	missense	79853			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.659G>A	2.37:g.228228471C>T	ENSP00000303028:p.Gly220Glu		227936715	B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	ENST00000304568.3	37	CCDS2466.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359966	0.82353	.	.	ENSG00000168955	ENST00000304568	T	0.40225	1.04	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.68403	0.2997	M	0.86178	2.8	0.47737	D	0.999504	D	0.89917	1.0	D	0.97110	1.0	T	0.73183	-0.4063	10	0.87932	D	0	-21.723	15.1611	0.72785	0.0:1.0:0.0:0.0	.	220	Q53R12	T4S20_HUMAN	E	220	ENSP00000303028:G220E	ENSP00000303028:G220E	G	-	2	0	TM4SF20	227936715	0.936000	0.31750	0.992000	0.48379	0.966000	0.64601	3.944000	0.56629	2.659000	0.90383	0.655000	0.94253	GGA		0.378	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		T	228228471	C	T	228228471	3	4	163	1	0	0	0	0	1	0	0	0	15969	855	30	2	34	2	TM4SF20	2	228228471	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	3766133	228228471	14970902	18	9140											
WNT5A	7474	genome.wustl.edu	37	3	55504324	55504324	+	Silent	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr3:55504324C>T	ENST00000474267.1	-	6	1460	c.939G>A	c.(937-939)gaG>gaA	p.E313E	WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000264634.4_Silent_p.E313E|WNT5A_ENST00000497027.1_Silent_p.E298E			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	313					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		AGCCGGTGCTCTCATTGCGCA	0.642																																																0			3											55	63	60					3																	55504324		2203	4300	6503	55479364	SO:0001819	synonymous_variant	7474			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.939G>A	3.37:g.55504324C>T			55479364	A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	CCDS46850.1																																																																																				0.642	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		T	55504324	C	T	55504324	2	4	163	1	0	0	0	0	0	0	0	1	17391	912	32	2		2	WNT5A	3	55504324	Silent	SNP	C	TCGA-20-1683-01A-01W-0633-09		55504324	142518106	19	9141											
GPR128	84873	genome.wustl.edu	37	3	100352118	100352118	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr3:100352118C>G	ENST00000273352.3	+	4	612	c.344C>G	c.(343-345)cCa>cGa	p.P115R	GPR128_ENST00000475887.1_5'Flank	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	115					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCGGGCAATCCAATGGCAGTC	0.289																																					Pancreas(87;185 1975 7223 18722)											0			3											35	37	37					3																	100352118		2203	4300	6503	101834808	SO:0001583	missense	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.344C>G	3.37:g.100352118C>G	ENSP00000273352:p.Pro115Arg		101834808	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189327	0.57909	.	.	ENSG00000144820	ENST00000273352	T	0.54675	0.56	5.67	5.67	0.87782	.	0.105765	0.42964	D	0.000632	T	0.70876	0.3274	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.73228	-0.4049	10	0.72032	D	0.01	.	15.2573	0.73596	0.0:1.0:0.0:0.0	.	115	Q96K78	GP128_HUMAN	R	115	ENSP00000273352:P115R	ENSP00000273352:P115R	P	+	2	0	GPR128	101834808	0.299000	0.24426	0.225000	0.23894	0.737000	0.42083	3.358000	0.52284	2.658000	0.90341	0.650000	0.86243	CCA		0.289	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			G	100352118	C	G	100352118	3	3	163	1	0	0	0	0	1	0	0	0	6641	594	21	3	358	3	GPR128	3	100352118	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	44847794	100352118	97670312	20	9142											
KALRN	8997	genome.wustl.edu	37	3	124210234	124210234	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr3:124210234G>A	ENST00000240874.3	+	31	4803	c.4646G>A	c.(4645-4647)gGg>gAg	p.G1549E	KALRN_ENST00000360013.3_Missense_Mutation_p.G1549E|KALRN_ENST00000460856.1_Missense_Mutation_p.G1540E	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1549	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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						TTGTGGTCTGGGCGCACCCCA	0.547																																																0			3											82	74	77					3																	124210234		2203	4300	6503	125692924	SO:0001583	missense	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.4646G>A	3.37:g.124210234G>A	ENSP00000240874:p.Gly1549Glu		125692924	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.315969|4.315969	0.81469|0.81469	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|T	0.11063|0.10960	2.81;2.81;2.81|2.82	5.38|5.38	4.51|4.51	0.55191|0.55191	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.059559|0.059559	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.21267|0.21267	0.0512|0.0512	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.81914|.	0.962;0.995;0.983|.	T|T	0.00695|0.00695	-1.1606|-1.1606	10|8	0.62326|0.87932	D|D	0.03|0	.|.	13.9587|13.9587	0.64166|0.64166	0.0719:0.0:0.9281:0.0|0.0719:0.0:0.9281:0.0	.|.	1540;1549;1549|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	E|S	1540;1549;1549|1518	ENSP00000418611:G1540E;ENSP00000240874:G1549E;ENSP00000353109:G1549E|ENSP00000346122:G1518S	ENSP00000240874:G1549E|ENSP00000346122:G1518S	G|G	+|+	2|1	0|0	KALRN|KALRN	125692924|125692924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.651000|9.651000	0.98493|0.98493	1.503000|1.503000	0.48686|0.48686	0.655000|0.655000	0.94253|0.94253	GGG|GGC		0.547	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		A	124210234	G	A	124210234	3	1	163	1	0	0	0	0	1	0	0	0	7975	1232	43	2	4768	2	KALRN	3	124210234	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	23858116	124210234	73812196	21	9143											
SENP2	59343	genome.wustl.edu	37	3	185324264	185324264	+	Missense_Mutation	SNP	G	G	A	rs145156187		TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr3:185324264G>A	ENST00000296257.5	+	6	836	c.596G>A	c.(595-597)cGt>cAt	p.R199H	SENP2_ENST00000545472.1_Missense_Mutation_p.R189H|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000427465.2_Missense_Mutation_p.R23H	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	199					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTCTGAGGCGTCCCCATTGT	0.443																																																0			3						G	HIS/ARG	0,4406		0,0,2203	65	64	64		596	4.7	1	3	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense	SENP2	NM_021627.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	199/590	185324264	2,13004	2203	4300	6503	186806958	SO:0001583	missense	59343			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.596G>A	3.37:g.185324264G>A	ENSP00000296257:p.Arg199His		186806958	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341318	0.81911	0.0	2.33E-4	ENSG00000163904	ENST00000430355;ENST00000545472;ENST00000296257;ENST00000427465	T;T;T	0.30714	1.52;1.54;1.55	5.58	4.71	0.59529	.	0.222986	0.32785	N	0.005646	T	0.20210	0.0486	N	0.19112	0.55	0.34357	D	0.690492	B;B	0.18310	0.027;0.027	B;B	0.12156	0.007;0.005	T	0.16867	-1.0388	10	0.49607	T	0.09	-15.1078	10.616	0.45451	0.0887:0.0:0.9113:0.0	.	189;199	B4DQ42;Q9HC62	.;SENP2_HUMAN	H	253;189;199;23	ENSP00000439653:R189H;ENSP00000296257:R199H;ENSP00000394562:R23H	ENSP00000296257:R199H	R	+	2	0	SENP2	186806958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.377000	0.52425	1.513000	0.48852	0.579000	0.79373	CGT		0.443	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		A	185324264	G	A	185324264	3	1	163	1	0	0	0	0	1	0	0	0	14050	1145	40	1	618	1	SENP2	3	185324264	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	61114030	185324264	12698166	22	9144											
OPA1	4976	genome.wustl.edu	37	3	193380707	193380707	+	Missense_Mutation	SNP	C	C	T	rs143252541		TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr3:193380707C>T	ENST00000392438.3	+	24	2686	c.2452C>T	c.(2452-2454)Cgg>Tgg	p.R818W	OPA1_ENST00000361150.2_Missense_Mutation_p.R819W|OPA1_ENST00000361510.2_Missense_Mutation_p.R873W|OPA1_ENST00000361715.2_Missense_Mutation_p.R837W|OPA1_ENST00000361908.3_Missense_Mutation_p.R855W|OPA1_ENST00000361828.2_Missense_Mutation_p.R836W	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	818					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AACCACAGTCCGGAAGAACCT	0.398																																																0			3						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	96	92	93		2452,2344,2398,2455,2506,2509,2563,2617	4.9	1	3	dbSNP_134	93	1,8599		0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense	OPA1	NM_015560.2,NM_130831.2,NM_130832.2,NM_130833.2,NM_130834.2,NM_130835.2,NM_130836.2,NM_130837.2	101,101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	818/961,782/925,800/943,819/962,836/979,837/980,855/998,873/1016	193380707	1,13005	2203	4300	6503	194863401	SO:0001583	missense	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2452C>T	3.37:g.193380707C>T	ENSP00000376233:p.Arg818Trp		194863401	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294822	0.81025	0.0	1.16E-4	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863	D;D;D;D;D;D;D	0.96491	-3.66;-3.62;-3.61;-3.62;-3.66;-4.03;-2.74	5.85	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.981;0.997;0.997;0.986;0.997;0.988;0.997	D	0.97685	1.0175	10	0.87932	D	0	-12.0188	11.9355	0.52870	0.3043:0.6957:0.0:0.0	.	782;818;800;819;836;855;837;873	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	W	855;818;873;837;836;819;10	ENSP00000354681:R855W;ENSP00000376233:R818W;ENSP00000355324:R873W;ENSP00000355311:R837W;ENSP00000354429:R836W;ENSP00000354781:R819W;ENSP00000398358:R10W	ENSP00000354781:R819W	R	+	1	2	OPA1	194863401	0.952000	0.32445	1.000000	0.80357	0.996000	0.88848	1.789000	0.38724	2.753000	0.94483	0.655000	0.94253	CGG		0.398	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		T	193380707	C	T	193380707	3	4	163	1	0	0	0	0	1	0	0	0	10871	643	23	1	2719	1	OPA1	3	193380707	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	8056443	193380707	4641723	23	9145											
TNK2	10188	genome.wustl.edu	37	3	195615448	195615448	+	Silent	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr3:195615448C>T	ENST00000333602.6	-	2	629	c.12G>A	c.(10-12)gaG>gaA	p.E4E	TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Silent_p.E67E|TNK2_ENST00000316664.3_Silent_p.E4E|TNK2_ENST00000428187.1_Silent_p.E36E|TNK2_ENST00000392400.1_Silent_p.E4E	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	4	SAM-like domain.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTGTGCCCTCCTCTGGCTGCA	0.662																																																0			3											27	26	26					3																	195615448		2190	4236	6426	197099845	SO:0001819	synonymous_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.12G>A	3.37:g.195615448C>T			197099845	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	6.411	0.444040	0.12164	.	.	ENSG00000061938	ENST00000438207	.	.	.	4.86	3.04	0.35103	.	.	.	.	.	T	0.59459	0.2195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56129	-0.8030	4	.	.	.	.	10.0216	0.42046	0.0:0.7675:0.0:0.2325	.	.	.	.	K	3	.	.	R	-	2	0	TNK2	197099845	0.785000	0.28726	0.997000	0.53966	0.618000	0.37518	-0.099000	0.11007	1.051000	0.40369	0.313000	0.20887	AGG		0.662	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		T	195615448	C	T	195615448	2	4	163	1	0	0	0	0	0	0	0	1	16318	680	24	2		2	TNK2	3	195615448	Silent	SNP	C	TCGA-20-1683-01A-01W-0633-09	2234741	195615448	2406982	24	9146											
PPP2R2B	5521	genome.wustl.edu	37	5	145972610	145972610	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr5:145972610G>A	ENST00000394413.3	-	8	1546	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R326C|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R315C|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R384C|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R315C|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R326C|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R326C|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R332C|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R392C|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R329C|CTB-99A3.1_ENST00000512730.1_RNA			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	326					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTGCTGCGGAGGTAGTCA	0.418																																																0			5											144	154	151					5																	145972610		2203	4300	6503	145952803	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.976C>T	5.37:g.145972610G>A	ENSP00000377935:p.Arg326Cys		145952803	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714039	0.68730	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.77358	-1.08;-1.08;1.18;-1.08;-1.08;-1.08;-1.08;-1.08;-1.09;1.18	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90584	0.7048	M	0.93550	3.43	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.74023	0.967;0.967;0.951;0.967;0.982;0.973	D	0.92388	0.5919	10	0.87932	D	0	-13.6789	15.0059	0.71513	0.0:0.0:0.8572:0.1428	.	384;332;315;392;329;326	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	C	326;315;392;326;326;326;315;329;332;384	ENSP00000377935:R326C;ENSP00000431320:R315C;ENSP00000377936:R392C;ENSP00000377933:R326C;ENSP00000349283:R326C;ENSP00000398779:R326C;ENSP00000377932:R315C;ENSP00000336591:R329C;ENSP00000421396:R332C;ENSP00000377931:R384C	ENSP00000336591:R329C	R	-	1	0	AC011357.1	145952803	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.492000	0.35594	2.808000	0.96608	0.655000	0.94253	CGC		0.418	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		A	145972610	G	A	145972610	3	1	163	1	0	0	0	0	1	0	0	0	12388	1116	39	1	363	1	PPP2R2B	5	145972610	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09		145972610	34942650	25	9147											
GABRG2	2566	genome.wustl.edu	37	5	161530962	161530962	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr5:161530962A>T	ENST00000361925.4	+	6	919	c.699A>T	c.(697-699)agA>agT	p.R233S	GABRG2_ENST00000393933.4_Missense_Mutation_p.R138S|GABRG2_ENST00000414552.2_Missense_Mutation_p.R273S|GABRG2_ENST00000356592.3_Missense_Mutation_p.R233S			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	233					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGACACAAGATCCTGGAGGC	0.413																																																0			5											114	109	110					5																	161530962		2203	4300	6503	161463540	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.699A>T	5.37:g.161530962A>T	ENSP00000354651:p.Arg233Ser		161463540	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727974	0.30593	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.56	-5.19	0.02832	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	N	0.12569	0.235	0.53005	D	0.999968	P;B;B	0.46327	0.876;0.361;0.312	P;B;B	0.52217	0.693;0.309;0.205	T	0.62338	-0.6875	10	0.22109	T	0.4	.	15.6509	0.77091	0.3727:0.0:0.6273:0.0	.	273;233;233	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	S	233;273;233;138;138	ENSP00000349000:R233S;ENSP00000410732:R273S;ENSP00000354651:R233S;ENSP00000377510:R138S;ENSP00000430182:R138S	ENSP00000349000:R233S	R	+	3	2	GABRG2	161463540	0.006000	0.16342	0.967000	0.41034	0.999000	0.98932	-0.817000	0.04472	-0.743000	0.04784	0.533000	0.62120	AGA		0.413	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			T	161530962	A	T	161530962	3	4	163	1	0	0	0	0	1	0	0	0	6172	330	12	5	845	5	GABRG2	5	161530962	Missense_Mutation	SNP	A	TCGA-20-1683-01A-01W-0633-09	15558352	161530962	19384298	26	9148											
CPEB4	80315	genome.wustl.edu	37	5	173317322	173317322	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr5:173317322C>A	ENST00000265085.5	+	1	2040	c.586C>A	c.(586-588)Cct>Act	p.P196T	CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000519835.1_Missense_Mutation_p.P196T|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000520867.1_Missense_Mutation_p.P196T|CPEB4_ENST00000334035.5_Missense_Mutation_p.P196T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	196					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGAGGGGTCCCTGCTGCTTC	0.502																																																0			5											78	83	82					5																	173317322		2203	4300	6503	173249928	SO:0001583	missense	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.586C>A	5.37:g.173317322C>A	ENSP00000265085:p.Pro196Thr		173249928	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452567	0.43531	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.82	5.82	0.92795	.	0.096933	0.64402	D	0.000001	T	0.32882	0.0844	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.15141	0.007;0.012;0.004;0.007	B;B;B;B	0.16289	0.007;0.015;0.007;0.007	T	0.11060	-1.0603	10	0.87932	D	0	-11.8924	20.0991	0.97865	0.0:1.0:0.0:0.0	.	196;196;196;196	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	T	196	ENSP00000265085:P196T;ENSP00000429092:P196T;ENSP00000334533:P196T;ENSP00000429048:P196T	ENSP00000265085:P196T	P	+	1	0	CPEB4	173249928	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.759000	0.68785	2.752000	0.94435	0.655000	0.94253	CCT		0.502	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		A	173317322	C	A	173317322	3	1	163	1	0	0	0	0	1	0	0	0	3803	623	22	3	588	3	CPEB4	5	173317322	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	11786360	173317322	7597938	27	9149											
RREB1	6239	genome.wustl.edu	37	6	7230384	7230384	+	Silent	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr6:7230384C>T	ENST00000349384.6	+	10	2366	c.2052C>T	c.(2050-2052)gcC>gcT	p.A684A	RREB1_ENST00000334984.6_Silent_p.A684A|RREB1_ENST00000379938.2_Silent_p.A684A|RREB1_ENST00000379933.3_Silent_p.A684A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	684					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCGACAAGGCCGCGCTCATCC	0.632																																																0			6											55	51	52					6																	7230384		2203	4300	6503	7175383	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2052C>T	6.37:g.7230384C>T			7175383	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																				0.632	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7230384	C	T	7230384	2	4	163	1	0	0	0	0	0	0	0	1	13682	639	23	1		1	RREB1	6	7230384	Silent	SNP	C	TCGA-20-1683-01A-01W-0633-09		7230384	163884683	28	9150											
HIST1H2BI	8346	genome.wustl.edu	37	6	26273208	26273208	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr6:26273208C>G	ENST00000377733.2	+	1	65	c.5C>G	c.(4-6)cCt>cGt	p.P2R	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	2					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GCGAACATGCCTGAACCAGCT	0.542																																																0			6											94	94	94					6																	26273208		2203	4300	6503	26381187	SO:0001583	missense	8346			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"Histones / Replication-dependent"	4756	protein-coding gene	gene with protein product		602807	"H2B histone family, member K", "histone 1, H2bi"	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.5C>G	6.37:g.26273208C>G	ENSP00000366962:p.Pro2Arg		26381187	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	11.16	1.557852	0.27827	.	.	ENSG00000168242	ENST00000377733	T	0.19669	2.13	4.89	4.02	0.46733	.	.	.	.	.	T	0.34542	0.0901	M	0.89287	3.02	0.34378	D	0.692752	.	.	.	.	.	.	T	0.48139	-0.9061	7	0.87932	D	0	.	11.9022	0.52690	0.0:0.9143:0.0:0.0857	.	.	.	.	R	2	ENSP00000366962:P2R	ENSP00000366962:P2R	P	+	2	0	HIST1H2BI	26381187	1.000000	0.71417	0.888000	0.34837	0.008000	0.06430	4.769000	0.62300	1.066000	0.40716	-0.253000	0.11424	CCT		0.542	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		G	26273208	C	G	26273208	3	3	163	1	0	0	0	0	1	0	0	0	7148	681	24	3	7	3	HIST1H2BI	6	26273208	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	19042824	26273208	144841859	29	9151											
ZKSCAN4	387032	genome.wustl.edu	37	6	28217489	28217489	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr6:28217489C>G	ENST00000377294.2	-	2	790	c.547G>C	c.(547-549)Gga>Cga	p.G183R	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G28R	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	183					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)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGCTGGGATCCCAGAGATTCA	0.433																																																0			6											199	182	188					6																	28217489		2203	4300	6503	28325468	SO:0001583	missense	387032			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.547G>C	6.37:g.28217489C>G	ENSP00000366509:p.Gly183Arg		28325468	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704978	0.30232	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.05717	3.45;3.4	3.7	2.82	0.32997	.	.	.	.	.	T	0.01222	0.0040	N	0.14661	0.345	0.26282	N	0.978252	B	0.15930	0.015	B	0.17433	0.018	T	0.47674	-0.9099	9	0.20519	T	0.43	.	9.2694	0.37661	0.0:0.7796:0.2204:0.0	.	183	Q969J2	ZKSC4_HUMAN	R	183;28	ENSP00000366509:G183R;ENSP00000401978:G28R	ENSP00000366509:G183R	G	-	1	0	ZKSCAN4	28325468	0.001000	0.12720	0.846000	0.33378	0.995000	0.86356	0.662000	0.25038	1.106000	0.41623	0.655000	0.94253	GGA		0.433	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		G	28217489	C	G	28217489	3	3	163	1	0	0	0	0	1	0	0	0	17689	632	22	3	1106	3	ZKSCAN4	6	28217489	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	1944281	28217489	142897578	30	9152											
TMEM30A	55754	genome.wustl.edu	37	6	75969140	75969140	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr6:75969140C>T	ENST00000230461.6	-	5	937	c.608G>A	c.(607-609)gGt>gAt	p.G203D	TMEM30A_ENST00000475111.2_Missense_Mutation_p.G167D|TMEM30A_ENST00000370050.5_Missense_Mutation_p.G84D	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	203					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAAGCAATACCTTTCTTTTT	0.338																																																0			6											91	91	91					6																	75969140		2203	4298	6501	76025860	SO:0001583	missense	55754			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.608G>A	6.37:g.75969140C>T	ENSP00000230461:p.Gly203Asp		76025860	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244993	0.95272	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.64676	1.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71609	-0.4541	9	0.44086	T	0.13	.	19.3389	0.94334	0.0:1.0:0.0:0.0	.	167;203	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	D	203;187;84;167	.	ENSP00000230461:G203D	G	-	2	0	TMEM30A	76025860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.624000	0.83124	2.650000	0.89964	0.655000	0.94253	GGT		0.338	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		T	75969140	C	T	75969140	3	4	163	1	0	0	0	0	1	0	0	0	16153	507	18	2	489	2	TMEM30A	6	75969140	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	47751651	75969140	95145927	31	9153											
EYA4	2070	genome.wustl.edu	37	6	133767791	133767791	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr6:133767791C>G	ENST00000367895.5	+	4	571	c.107C>G	c.(106-108)gCa>gGa	p.A36G	EYA4_ENST00000531901.1_Missense_Mutation_p.A36G|EYA4_ENST00000431403.2_Missense_Mutation_p.A36G|EYA4_ENST00000430974.2_Missense_Mutation_p.A36G|EYA4_ENST00000452339.2_Missense_Mutation_p.A36G|EYA4_ENST00000355167.3_Missense_Mutation_p.A36G|EYA4_ENST00000355286.6_Missense_Mutation_p.A36G|EYA4_ENST00000525849.1_Missense_Mutation_p.A36G	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	36					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGGACCTAGCAAGTCCTCAT	0.393																																					Melanoma(57;398 1237 3528 4702 7415)											0			6											117	111	113					6																	133767791		2203	4300	6503	133809484	SO:0001583	missense	2070			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.107C>G	6.37:g.133767791C>G	ENSP00000356870:p.Ala36Gly		133809484	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653553	0.47362	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;T;D;T;D	0.92249	-3.0;-2.96;-2.9;-2.9;-0.09;-2.92;-0.09;-2.9	4.94	4.94	0.65067	.	0.186442	0.47852	D	0.000212	D	0.82632	0.5079	L	0.34521	1.04	0.50813	D	0.999897	B;B;B;B;B;B	0.16603	0.004;0.002;0.0;0.001;0.003;0.018	B;B;B;B;B;B	0.20184	0.002;0.009;0.002;0.004;0.011;0.028	T	0.79431	-0.1806	10	0.35671	T	0.21	-15.2044	14.9707	0.71232	0.0:0.8568:0.1432:0.0	.	36;36;36;36;36;36	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	G	36	ENSP00000395916:A36G;ENSP00000388670:A36G;ENSP00000356870:A36G;ENSP00000347294:A36G;ENSP00000347434:A36G;ENSP00000432770:A36G;ENSP00000433219:A36G;ENSP00000404558:A36G	ENSP00000347294:A36G	A	+	2	0	EYA4	133809484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.476000	0.66793	2.418000	0.82041	0.591000	0.81541	GCA		0.393	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		G	133767791	C	G	133767791	3	3	163	1	0	0	0	0	1	0	0	0	5331	710	25	3	117	3	EYA4	6	133767791	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	57798651	133767791	37347276	32	9154											
TAGAP	117289	genome.wustl.edu	37	6	159462397	159462397	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr6:159462397C>G	ENST00000367066.3	-	6	797	c.466G>C	c.(466-468)Gtg>Ctg	p.V156L	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_5'UTR|TAGAP_ENST00000338313.5_Missense_Mutation_p.V156L	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	156	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTAAAGACCACAGCGAGGAGG	0.562																																																0			6											95	86	89					6																	159462397		2203	4300	6503	159382385	SO:0001583	missense	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.466G>C	6.37:g.159462397C>G	ENSP00000356033:p.Val156Leu		159382385	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024334	0.35701	.	.	ENSG00000164691	ENST00000367066;ENST00000338313	T;T	0.21734	1.99;1.99	5.66	5.66	0.87406	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.625511	0.15142	N	0.278239	T	0.32133	0.0819	M	0.86651	2.83	0.38806	D	0.955315	B;P	0.48834	0.328;0.916	B;P	0.46389	0.178;0.515	T	0.36311	-0.9753	10	0.52906	T	0.07	-9.6776	19.3418	0.94344	0.0:1.0:0.0:0.0	.	156;156	Q8N103-4;Q8N103	.;TAGAP_HUMAN	L	156	ENSP00000356033:V156L;ENSP00000340217:V156L	ENSP00000340217:V156L	V	-	1	0	TAGAP	159382385	0.274000	0.24191	0.020000	0.16555	0.156000	0.22039	4.975000	0.63777	2.678000	0.91216	0.563000	0.77884	GTG		0.562	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		G	159462397	C	G	159462397	3	3	163	1	0	0	0	0	1	0	0	0	15537	478	17	3	1767	3	TAGAP	6	159462397	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	25694606	159462397	11652670	33	9155											
SKAP2	8935	genome.wustl.edu	37	7	26779515	26779515	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr7:26779515G>A	ENST00000345317.2	-	5	689	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	126	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R126C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CCTTTTCTGCGTTTTTCAAGG	0.373																																																1	Substitution - Missense(1)	skin(1)	7											74	70	71					7																	26779515		2203	4300	6503	26746040	SO:0001583	missense	8935				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.376C>T	7.37:g.26779515G>A	ENSP00000005587:p.Arg126Cys		26746040	A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058233	0.76074	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.14391	2.51;2.51	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.06391	-1.0829	10	0.87932	D	0	-25.7679	17.008	0.86398	0.0:0.0:1.0:0.0	.	111;126	B7Z5N4;O75563	.;SKAP2_HUMAN	C	126;111;111	ENSP00000005587:R126C;ENSP00000408163:R111C	ENSP00000005587:R126C	R	-	1	0	SKAP2	26746040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.504000	0.66968	2.746000	0.94184	0.591000	0.81541	CGC		0.373	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			A	26779515	G	A	26779515	3	1	163	1	0	0	0	0	1	0	0	0	14359	1145	40	1	735	1	SKAP2	7	26779515	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09		26779515	132359148	34	9156											
SEMA3A	10371	genome.wustl.edu	37	7	83590916	83590916	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr7:83590916G>A	ENST00000265362.4	-	17	2401	c.2087C>T	c.(2086-2088)aCa>aTa	p.T696I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T696I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	696					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTGGCTAGGTGTCATGCTATT	0.438																																																0			7											203	178	186					7																	83590916		2203	4300	6503	83428852	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2087C>T	7.37:g.83590916G>A	ENSP00000265362:p.Thr696Ile		83428852		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292796	0.40594	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.28069	1.63;1.63	6.08	6.08	0.98989	.	0.269394	0.43919	D	0.000509	T	0.22551	0.0544	N	0.14661	0.345	0.54753	D	0.999983	B	0.29862	0.259	B	0.27608	0.081	T	0.04242	-1.0966	10	0.26408	T	0.33	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	696	Q14563	SEM3A_HUMAN	I	696	ENSP00000265362:T696I;ENSP00000415260:T696I	ENSP00000265362:T696I	T	-	2	0	SEMA3A	83428852	1.000000	0.71417	0.906000	0.35671	0.821000	0.46438	7.837000	0.86796	2.894000	0.99253	0.655000	0.94253	ACA		0.438	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		A	83590916	G	A	83590916	3	1	163	1	0	0	0	0	1	0	0	0	14027	1377	48	2	232	2	SEMA3A	7	83590916	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	56811401	83590916	75547747	35	9157											
TRRAP	8295	genome.wustl.edu	37	7	98495486	98495486	+	Silent	SNP	A	A	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr7:98495486A>C	ENST00000359863.4	+	8	839	c.630A>C	c.(628-630)cgA>cgC	p.R210R	TRRAP_ENST00000446306.3_Silent_p.R210R|TRRAP_ENST00000355540.3_Silent_p.R210R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	210					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGAGACTCGAACAGTAAGTG	0.458																																																0			7											165	151	155					7																	98495486		2203	4300	6503	98333422	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.630A>C	7.37:g.98495486A>C			98333422	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1																																																																																				0.458	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		C	98495486	A	C	98495486	2	2	163	1	0	0	0	0	0	0	0	1	16601	233	9	5		5	TRRAP	7	98495486	Silent	SNP	A	TCGA-20-1683-01A-01W-0633-09	14904570	98495486	60643177	36	9158											
TAS2R38	5726	genome.wustl.edu	37	7	141673169	141673169	+	Silent	SNP	G	G	A	rs181117063		TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr7:141673169G>A	ENST00000547270.1	-	1	404	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	107					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGCAAGCCAGAGGTTGGCTT	0.517																																																0			7											91	91	91					7																	141673169		2203	4300	6503	141319638	SO:0001819	synonymous_variant	5726			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.321C>T	7.37:g.141673169G>A			141319638	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	37	CCDS34765.1																																																																																				0.517	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		A	141673169	G	A	141673169	2	1	163	1	0	0	0	0	0	0	0	1	15575	929	33	2		2	TAS2R38	7	141673169	Silent	SNP	G	TCGA-20-1683-01A-01W-0633-09	43177683	141673169	17465494	37	9159											
PAXIP1	22976	genome.wustl.edu	37	7	154760666	154760666	+	Silent	SNP	C	C	T	rs61752011	byFrequency	TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr7:154760666C>T	ENST00000404141.1	-	7	1399	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	PAXIP1_ENST00000397192.1_Silent_p.P415P|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	415	Gln-rich.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGTGTAAAACCGGGtgctgct	0.562													C|||	1110	0.221645	0.0484	0.3588	5008	,	,		16758	0.2133		0.2922	False		,,,				2504	0.2945															0			7						C		272,3634		8,256,1689	22	22	22		1245	-9.9	0	7	dbSNP_129	22	1762,5876		184,1394,2241	no	coding-synonymous	PAXIP1	NM_007349.3		192,1650,3930	TT,TC,CC		23.0689,6.9636,17.6195		415/1070	154760666	2034,9510	1953	3819	5772	154391599	SO:0001819	synonymous_variant	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1245G>A	7.37:g.154760666C>T			154391599	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	CCDS47753.1																																																																																				0.562	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		T	154760666	C	T	154760666	2	4	163	1	0	0	0	0	0	0	0	1	11487	639	23	1		1	PAXIP1	7	154760666	Silent	SNP	C	TCGA-20-1683-01A-01W-0633-09	13087497	154760666	4377997	38	9160											
CSMD1	64478	genome.wustl.edu	37	8	2806870	2806870	+	Missense_Mutation	SNP	T	T	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr8:2806870T>A	ENST00000520002.1	-	69	10911	c.10356A>T	c.(10354-10356)caA>caT	p.Q3452H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q3274H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q3452H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q3451H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q3275H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q3275H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3452						integral component of membrane (GO:0016021)				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)		GAATGTCACCTTGAAAAGTAA	0.338																																																0			8											99	90	93					8																	2806870		1807	4070	5877	2794277	SO:0001583	missense	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.10356A>T	8.37:g.2806870T>A	ENSP00000430733:p.Gln3452His		2794277	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.77|14.77	2.633232|2.633232	0.47049|0.47049	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.36520|.	1.25;1.55;1.57;1.25|.	5.6|5.6	2.79|2.79	0.32731|0.32731	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60932|0.60932	0.2307|0.2307	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	B;D;D|.	0.76494|.	0.006;0.997;0.999|.	B;D;D|.	0.85130|.	0.004;0.96;0.997|.	T|T	0.55016|0.55016	-0.8206|-0.8206	10|5	0.87932|.	D|.	0|.	.|.	6.816|6.816	0.23831|0.23831	0.0:0.0997:0.1412:0.7591|0.0:0.0997:0.1412:0.7591	.|.	3452;3452;3274|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	H|W	3275;3452;3313;3451;3274|2854	ENSP00000383047:Q3275H;ENSP00000430733:Q3452H;ENSP00000441462:Q3451H;ENSP00000446243:Q3274H|.	ENSP00000320445:Q3313H|.	Q|R	-|-	3|1	2|2	CSMD1|CSMD1	2794277|2794277	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.174000|0.174000	0.22865|0.22865	1.364000|1.364000	0.34171|0.34171	0.323000|0.323000	0.23307|0.23307	0.519000|0.519000	0.50382|0.50382	CAA|AGG		0.338	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2806870	T	A	2806870	3	1	163	1	0	0	0	0	1	0	0	0	3944	1606	56	5	353	5	CSMD1	8	2806870	Missense_Mutation	SNP	T	TCGA-20-1683-01A-01W-0633-09		2806870	143557152	39	9161											
ST18	9705	genome.wustl.edu	37	8	53030927	53030927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr8:53030927C>A	ENST00000276480.7	-	24	3513	c.2830G>T	c.(2830-2832)Gaa>Taa	p.E944*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	944					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E944K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATATCTGCTTCAATTTTAAGG	0.308																																																1	Substitution - Missense(1)	lung(1)	8											191	187	188					8																	53030927		2201	4297	6498	53193480	SO:0001587	stop_gained	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2830G>T	8.37:g.53030927C>A	ENSP00000276480:p.Glu944*		53193480	Q17RY1	Nonsense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	47	13.336713	0.99735	.	.	ENSG00000147488	ENST00000276480	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.1059	18.9918	0.92796	0.0:1.0:0.0:0.0	.	.	.	.	X	944	.	ENSP00000276480:E944X	E	-	1	0	ST18	53193480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.499000	0.84300	0.591000	0.81541	GAA		0.308	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			A	53030927	C	A	53030927	4	1	163	1	0	0	0	0	0	1	0	0	15214	835	29	3	325	3	ST18	8	53030927	Nonsense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	50224057	53030927	93333095	40	9162											
RNF20	56254	genome.wustl.edu	37	9	104309780	104309780	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr9:104309780A>C	ENST00000389120.3	+	9	1162	c.1072A>C	c.(1072-1074)Aca>Cca	p.T358P	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	358					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGAGGTCACTACACAAAATGA	0.453																																																0			9											61	62	62					9																	104309780		2203	4300	6503	103349601	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1072A>C	9.37:g.104309780A>C	ENSP00000373772:p.Thr358Pro		103349601	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669349	0.47677	.	.	ENSG00000155827	ENST00000389120	T	0.32272	1.46	5.41	0.177	0.15054	.	0.381517	0.32640	N	0.005822	T	0.14270	0.0345	N	0.14661	0.345	0.32968	D	0.521894	B	0.14438	0.01	B	0.14023	0.01	T	0.04693	-1.0933	10	0.54805	T	0.06	-2.8213	4.2971	0.10906	0.5075:0.0:0.1382:0.3543	.	358	Q5VTR2	BRE1A_HUMAN	P	358	ENSP00000373772:T358P	ENSP00000373772:T358P	T	+	1	0	RNF20	103349601	0.950000	0.32346	0.898000	0.35279	0.993000	0.82548	1.698000	0.37794	0.075000	0.16796	0.460000	0.39030	ACA		0.453	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		C	104309780	A	C	104309780	3	2	163	1	0	0	0	0	1	0	0	0	13476	391	14	5	1102	5	RNF20	9	104309780	Missense_Mutation	SNP	A	TCGA-20-1683-01A-01W-0633-09		104309780	36903651	41	9163											
DCLRE1C	64421	genome.wustl.edu	37	10	14950524	14950524	+	Silent	SNP	G	G	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr10:14950524G>A	ENST00000378278.2	-	14	1999	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	DCLRE1C_ENST00000378249.1_Silent_p.P539P|DCLRE1C_ENST00000378258.1_Silent_p.P534P|DCLRE1C_ENST00000378254.1_Silent_p.P534P|DCLRE1C_ENST00000378246.2_Silent_p.P539P|DCLRE1C_ENST00000378255.1_Silent_p.P534P|DCLRE1C_ENST00000378242.1_Silent_p.P307P|DCLRE1C_ENST00000396817.2_Silent_p.P534P|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'Flank|DCLRE1C_ENST00000357717.2_Silent_p.P539P|DCLRE1C_ENST00000453695.2_Silent_p.P534P			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	654					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CTGGAGTTGAGGGAACTTCAA	0.388								Non-homologous end-joining																																								0			10											155	160	158					10																	14950524		2203	4300	6503	14990530	SO:0001819	synonymous_variant	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1962C>T	10.37:g.14950524G>A			14990530	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	ENST00000378278.2	37	CCDS31149.1																																																																																				0.388	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		A	14950524	G	A	14950524	2	1	163	1	0	0	0	0	0	0	0	1	4296	987	35	2		2	DCLRE1C	10	14950524	Silent	SNP	G	TCGA-20-1683-01A-01W-0633-09		14950524	120584223	42	9164											
TYSND1	219743	genome.wustl.edu	37	10	71899805	71899805	+	Silent	SNP	G	G	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr10:71899805G>A	ENST00000287078.6	-	4	1575	c.1576C>T	c.(1576-1578)Ctg>Ttg	p.L526L	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	526	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						TACTGCTGCAGGGCCGGCTGG	0.637																																																0			10											106	97	100					10																	71899805		2203	4300	6503	71569811	SO:0001819	synonymous_variant	219743			BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1576C>T	10.37:g.71899805G>A			71569811	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Silent	SNP	ENST00000287078.6	37	CCDS31213.1																																																																																				0.637	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		A	71899805	G	A	71899805	2	1	163	1	0	0	0	0	0	0	0	1	16817	991	35	2		2	TYSND1	10	71899805	Silent	SNP	G	TCGA-20-1683-01A-01W-0633-09	56949281	71899805	63634942	43	9165											
CYP26A1	1592	genome.wustl.edu	37	10	94836889	94836889	+	Missense_Mutation	SNP	G	G	C	rs140117559		TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr10:94836889G>C	ENST00000224356.4	+	7	1367	c.1322G>C	c.(1321-1323)aGc>aCc	p.S441T	CYP26A1_ENST00000394139.1_Missense_Mutation_p.S372T|CYP26A1_ENST00000371531.1_Missense_Mutation_p.S372T	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	441					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	GGCCTTAGGAGCTGTGTAGGC	0.453																																																0			10											65	59	61					10																	94836889		2203	4300	6503	94826879	SO:0001583	missense	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1322G>C	10.37:g.94836889G>C	ENSP00000224356:p.Ser441Thr		94826879	B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914111	0.17907	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.69306	-0.39;-0.39;-0.39	5.49	4.55	0.56014	Cytochrome P450, conserved site (1);	0.127864	0.64402	D	0.000001	T	0.52533	0.1740	N	0.20304	0.555	0.37230	D	0.905629	B;B	0.24721	0.11;0.004	B;B	0.29077	0.098;0.017	T	0.50898	-0.8773	10	0.16896	T	0.51	-23.3852	16.5819	0.84717	0.0:0.1294:0.8706:0.0	.	372;441	B3KNI4;O43174	.;CP26A_HUMAN	T	372;441;372	ENSP00000360586:S372T;ENSP00000224356:S441T;ENSP00000377695:S372T	ENSP00000224356:S441T	S	+	2	0	CYP26A1	94826879	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.012000	0.64017	2.857000	0.98124	0.650000	0.86243	AGC		0.453	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			C	94836889	G	C	94836889	3	2	163	1	0	0	0	0	1	0	0	0	4155	971	34	3	1348	3	CYP26A1	10	94836889	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	22937084	94836889	40697858	44	9166											
RRP12	23223	genome.wustl.edu	37	10	99141222	99141222	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr10:99141222C>T	ENST00000370992.4	-	12	1450	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	RRP12_ENST00000536831.1_Missense_Mutation_p.V165M|RRP12_ENST00000414986.1_Missense_Mutation_p.V386M|RRP12_ENST00000315563.6_Missense_Mutation_p.V347M	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	447						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGGGAGCCACGCATTCCTTC	0.612																																																0			10											63	51	55					10																	99141222		2203	4300	6503	99131212	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1339G>A	10.37:g.99141222C>T	ENSP00000360031:p.Val447Met		99131212	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379154	0.61735	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.68	2.4	0.29515	Armadillo-like helical (1);Armadillo-type fold (1);	0.219434	0.47455	D	0.000228	T	0.71702	0.3371	M	0.74647	2.275	0.47094	D	0.999317	D;D;D;P	0.62365	0.985;0.972;0.991;0.801	P;P;P;B	0.61592	0.595;0.891;0.734;0.417	T	0.71889	-0.4456	10	0.72032	D	0.01	-15.7876	7.5755	0.27933	0.0:0.5998:0.0:0.4002	.	386;347;165;447	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	M	447;347;386;165	ENSP00000360031:V447M;ENSP00000324315:V347M;ENSP00000414863:V386M;ENSP00000446184:V165M	ENSP00000324315:V347M	V	-	1	0	RRP12	99131212	0.506000	0.26139	0.995000	0.50966	0.665000	0.39181	0.726000	0.25984	0.758000	0.33059	0.551000	0.68910	GTG		0.612	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		T	99141222	C	T	99141222	3	4	163	1	0	0	0	0	1	0	0	0	13689	536	19	1	2646	1	RRP12	10	99141222	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	4304333	99141222	36393525	45	9167											
DNMBP	23268	genome.wustl.edu	37	10	101643914	101643914	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr10:101643914T>C	ENST00000324109.4	-	15	3942	c.3851A>G	c.(3850-3852)tAt>tGt	p.Y1284C	DNMBP_ENST00000472036.1_5'Flank|DNMBP_ENST00000342239.3_Missense_Mutation_p.Y1308C|DNMBP_ENST00000540316.1_Missense_Mutation_p.Y220C|DNMBP_ENST00000543621.1_Missense_Mutation_p.Y530C	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1284					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTCAGGGGGATACCTGGCCAG	0.493																																																0			10											80	84	83					10																	101643914		2203	4300	6503	101633904	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3851A>G	10.37:g.101643914T>C	ENSP00000315659:p.Tyr1284Cys		101633904	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116921	0.77323	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.95	5.95	0.96441	Src homology-3 domain (1);	0.000000	0.43919	D	0.000512	T	0.75744	0.3891	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.994;0.996	T	0.78430	-0.2207	10	0.51188	T	0.08	-17.0921	16.0852	0.81042	0.0:0.0:0.0:1.0	.	1284;530;1308	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	C	1308;1284;530;530;220	ENSP00000344914:Y1308C;ENSP00000315659:Y1284C;ENSP00000443657:Y530C;ENSP00000443573:Y220C	ENSP00000315659:Y1284C	Y	-	2	0	DNMBP	101633904	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	4.908000	0.63307	2.279000	0.76181	0.533000	0.62120	TAT		0.493	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		C	101643914	T	C	101643914	3	2	163	1	0	0	0	0	1	0	0	0	4674	1406	49	4	894	4	DNMBP	10	101643914	Missense_Mutation	SNP	T	TCGA-20-1683-01A-01W-0633-09	2502692	101643914	33890833	46	9168											
OR51A7	119687	genome.wustl.edu	37	11	4928874	4928874	+	Missense_Mutation	SNP	T	T	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr11:4928874T>G	ENST00000359350.4	+	1	275	c.275T>G	c.(274-276)aTt>aGt	p.I92S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATGGGAATTTCACCTAAT	0.448																																																0			11											151	130	137					11																	4928874		2201	4298	6499	4885450	SO:0001583	missense	119687			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.275T>G	11.37:g.4928874T>G	ENSP00000352305:p.Ile92Ser		4885450	Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368313	0.61513	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.00606	6.26	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000372	T	0.04724	0.0128	H	0.96208	3.785	0.32124	N	0.587618	D	0.63046	0.992	D	0.68483	0.958	T	0.01988	-1.1234	10	0.87932	D	0	.	13.2778	0.60198	0.0:0.0:0.0:1.0	.	92	Q8NH64	O51A7_HUMAN	S	92;92;81	ENSP00000352305:I92S	ENSP00000352305:I92S	I	+	2	0	OR51A7	4885450	1.000000	0.71417	0.961000	0.40146	0.899000	0.52679	4.384000	0.59607	2.007000	0.58848	0.533000	0.62120	ATT		0.448	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		G	4928874	T	G	4928874	3	3	163	1	0	0	0	0	1	0	0	0	11088	1493	52	5	277	5	OR51A7	11	4928874	Missense_Mutation	SNP	T	TCGA-20-1683-01A-01W-0633-09		4928874	130077642	47	9169											
PEX16	9409	genome.wustl.edu	37	11	45936193	45936193	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr11:45936193C>G	ENST00000378750.5	-	6	746	c.503G>C	c.(502-504)gGg>gCg	p.G168A	PEX16_ENST00000532681.1_Missense_Mutation_p.G73A|PEX16_ENST00000241041.3_Missense_Mutation_p.G168A|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	168					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGACCGCTTCCCCACGTAGGA	0.602																																																0			11											179	145	156					11																	45936193		2203	4299	6502	45892769	SO:0001583	missense	9409			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.503G>C	11.37:g.45936193C>G	ENSP00000368024:p.Gly168Ala		45892769	Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405827	0.83230	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151;ENST00000525192	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	T	0.38436	-0.9661	10	0.36615	T	0.2	-43.2789	20.5385	0.99246	0.0:1.0:0.0:0.0	.	168;168	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	A	168;168;73;64;73	ENSP00000241041:G168A;ENSP00000368024:G168A;ENSP00000434654:G73A;ENSP00000433045:G64A;ENSP00000431309:G73A	ENSP00000241041:G168A	G	-	2	0	PEX16	45892769	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.788000	0.69020	2.863000	0.98299	0.549000	0.68633	GGG		0.602	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		G	45936193	C	G	45936193	3	3	163	1	0	0	0	0	1	0	0	0	11743	623	22	3	624	3	PEX16	11	45936193	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	41007319	45936193	89070323	48	9170											
RAB3IL1	5866	genome.wustl.edu	37	11	61669967	61669967	+	Missense_Mutation	SNP	G	G	A	rs148671281		TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr11:61669967G>A	ENST00000394836.2	-	8	1103	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.R290W	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	316					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TCCCCGAGCCGGATTCGGTGG	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		16048	0		0	False		,,,				2504	0															0			11											43	41	42					11																	61669967		2200	4298	6498	61426543	SO:0001583	missense	5866			AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.946C>T	11.37:g.61669967G>A	ENSP00000378313:p.Arg316Trp		61426543	Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	CCDS8014.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.92	3.507135	0.64410	.	.	ENSG00000167994	ENST00000394836;ENST00000301773	T;T	0.43688	0.94;0.94	4.25	3.24	0.37175	.	0.137802	0.50627	D	0.000117	T	0.59473	0.2196	M	0.77486	2.375	0.43238	D	0.995148	D;D	0.89917	1.0;0.998	D;P	0.65874	0.939;0.623	T	0.63888	-0.6535	10	0.87932	D	0	-23.5174	9.6714	0.40015	0.0:0.0:0.5883:0.4117	.	290;316	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	W	316;290	ENSP00000378313:R316W;ENSP00000301773:R290W	ENSP00000301773:R290W	R	-	1	2	RAB3IL1	61426543	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	6.738000	0.74822	2.304000	0.77564	0.561000	0.74099	CGG		0.627	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		A	61669967	G	A	61669967	3	1	163	1	0	0	0	0	1	0	0	0	12940	1115	39	1	214	1	RAB3IL1	11	61669967	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	15733774	61669967	73336549	49	9171											
MTA2	9219	genome.wustl.edu	37	11	62363327	62363327	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr11:62363327G>C	ENST00000278823.2	-	13	1540	c.1151C>G	c.(1150-1152)cCt>cGt	p.P384R	MTA2_ENST00000527204.1_Missense_Mutation_p.P211R|MTA2_ENST00000524902.1_Missense_Mutation_p.P211R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	384					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CTGCATGTTAGGTGGGCCCCA	0.577																																																0			11											68	67	67					11																	62363327		2202	4299	6501	62119903	SO:0001583	missense	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1151C>G	11.37:g.62363327G>C	ENSP00000278823:p.Pro384Arg		62119903	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114369	0.77210	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	D;D;D	0.99656	-6.31;-6.31;-6.31	5.87	4.91	0.64330	Zinc finger, GATA-type (2);	0.049029	0.85682	D	0.000000	D	0.98720	0.9570	M	0.65975	2.015	0.58432	D	0.999999	P	0.42456	0.78	B	0.39068	0.289	D	0.98669	1.0687	10	0.62326	D	0.03	-14.8293	13.5229	0.61578	0.0:0.0:0.8434:0.1566	.	384	O94776	MTA2_HUMAN	R	384;211;211	ENSP00000278823:P384R;ENSP00000431346:P211R;ENSP00000431797:P211R	ENSP00000278823:P384R	P	-	2	0	MTA2	62119903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.675000	0.84002	2.778000	0.95560	0.650000	0.86243	CCT		0.577	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		C	62363327	G	C	62363327	3	2	163	1	0	0	0	0	1	0	0	0	9909	1000	35	3	879	3	MTA2	11	62363327	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	693360	62363327	72643189	50	9172											
PACS1	55690	genome.wustl.edu	37	11	65983655	65983655	+	Silent	SNP	T	T	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr11:65983655T>C	ENST00000320580.4	+	5	759	c.726T>C	c.(724-726)tcT>tcC	p.S242S		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	242					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AGGATGTCTCTGTGCCTGTGG	0.517																																																0			11											121	100	107					11																	65983655		2201	4295	6496	65740231	SO:0001819	synonymous_variant	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.726T>C	11.37:g.65983655T>C			65740231	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	CCDS8129.1																																																																																				0.517	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		C	65983655	T	C	65983655	2	2	163	1	0	0	0	0	0	0	0	1	11372	1567	55	4		4	PACS1	11	65983655	Silent	SNP	T	TCGA-20-1683-01A-01W-0633-09	3620328	65983655	69022861	51	9173											
KCNA6	3742	genome.wustl.edu	37	12	4919820	4919820	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr12:4919820G>C	ENST00000280684.3	+	1	1479	c.613G>C	c.(613-615)Ggt>Cgt	p.G205R	KCNA6_ENST00000433855.1_Missense_Mutation_p.G205R|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	205					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	AGATGGTCGAGGTGGAAACAA	0.537										HNSCC(72;0.22)																																						0			12											75	67	70					12																	4919820		2203	4300	6503	4790081	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.613G>C	12.37:g.4919820G>C	ENSP00000280684:p.Gly205Arg		4790081		Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	0.196	-1.049374	0.01981	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97016	-4.21;-4.21	5.12	3.15	0.36227	.	0.142507	0.25386	U	0.031046	D	0.91610	0.7349	L	0.42245	1.32	0.36133	D	0.84629	B	0.02656	0.0	B	0.04013	0.001	D	0.86773	0.1974	10	0.18276	T	0.48	.	6.2808	0.21007	0.223:0.0:0.777:0.0	.	205	P17658	KCNA6_HUMAN	R	205	ENSP00000408321:G205R;ENSP00000280684:G205R	ENSP00000280684:G205R	G	+	1	0	KCNA6	4790081	.	.	0.985000	0.45067	0.181000	0.23173	.	.	1.398000	0.46701	0.655000	0.94253	GGT		0.537	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		C	4919820	G	C	4919820	3	2	163	1	0	0	0	0	1	0	0	0	8007	1000	35	3	615	3	KCNA6	12	4919820	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09		4919820	128932075	52	9174											
E2F7	144455	genome.wustl.edu	37	12	77440073	77440073	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr12:77440073C>T	ENST00000322886.7	-	5	809	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	E2F7_ENST00000416496.2_Missense_Mutation_p.V192M	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	192					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GACTCCAGCACATTTACAATG	0.488																																																0			12											78	74	75					12																	77440073		2203	4300	6503	75964204	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.574G>A	12.37:g.77440073C>T	ENSP00000323246:p.Val192Met		75964204	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.995956|4.995956	0.93167|0.93167	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000551058|ENST00000322886;ENST00000416496;ENST00000550669	.|T;T;T	.|0.56611	.|0.7;0.45;0.46	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82688|0.82688	0.5091|0.5091	H|H	0.95917|0.95917	3.74|3.74	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.87043|0.87043	0.2142|0.2142	5|10	.|0.87932	.|D	.|0	-17.9406|-17.9406	19.6603|19.6603	0.95864|0.95864	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|192;192	.|F8VSE7;Q96AV8	.|.;E2F7_HUMAN	I|M	69|192	.|ENSP00000323246:V192M;ENSP00000393639:V192M;ENSP00000448245:V192M	.|ENSP00000323246:V192M	M|V	-|-	3|1	0|0	E2F7|E2F7	75964204|75964204	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.837000|0.837000	0.47467|0.47467	6.094000|6.094000	0.71431|0.71431	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	ATG|GTG		0.488	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		T	77440073	C	T	77440073	3	4	163	1	0	0	0	0	1	0	0	0	4872	478	17	2	2197	2	E2F7	12	77440073	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	72520253	77440073	56411822	53	9175											
TMEM120B	144404	genome.wustl.edu	37	12	122199615	122199615	+	Silent	SNP	G	G	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr12:122199615G>A	ENST00000449592.2	+	6	623	c.522G>A	c.(520-522)cgG>cgA	p.R174R	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	174						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGACCATTCGGGAGAGCATTC	0.572																																																0			12											109	103	105					12																	122199615		2035	4185	6220	120683998	SO:0001819	synonymous_variant	0			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.522G>A	12.37:g.122199615G>A			120683998	A0PK01|B3KX33	Silent	SNP	ENST00000449592.2	37	CCDS41852.1																																																																																				0.572	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		A	122199615	G	A	122199615	2	1	163	1	0	0	0	0	0	0	0	1	16034	1219	43	2		2	TMEM120B	12	122199615	Silent	SNP	G	TCGA-20-1683-01A-01W-0633-09	44759542	122199615	11652280	54	9176											
ATL1	51062	genome.wustl.edu	37	14	51087331	51087331	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr14:51087331T>C	ENST00000358385.6	+	9	1118	c.877T>C	c.(877-879)Ttc>Ctc	p.F293L	ATL1_ENST00000441560.2_Missense_Mutation_p.F293L|ATL1_ENST00000357032.3_Missense_Mutation_p.F293L|ATL1_ENST00000354525.4_Missense_Mutation_p.F293L	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	293	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AGATGATGAATTCATCAAAAA	0.388																																																0			14											68	71	70					14																	51087331		2203	4300	6503	50157081	SO:0001583	missense	51062			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.877T>C	14.37:g.51087331T>C	ENSP00000351155:p.Phe293Leu		50157081	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	T	32	5.118819	0.94385	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.7	5.7	0.88788	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92541	0.7631	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93939	0.7221	10	0.87932	D	0	-12.6987	15.1519	0.72706	0.0:0.0:0.0:1.0	.	293;293	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	L	293	ENSP00000413675:F293L;ENSP00000351155:F293L;ENSP00000349534:F293L;ENSP00000346522:F293L	ENSP00000346522:F293L	F	+	1	0	ATL1	50157081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.177000	0.69029	0.459000	0.35465	TTC		0.388	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			C	51087331	T	C	51087331	3	2	163	1	0	0	0	0	1	0	0	0	1106	1493	52	4	911	4	ATL1	14	51087331	Missense_Mutation	SNP	T	TCGA-20-1683-01A-01W-0633-09		51087331	56262209	55	9177											
MNAT1	4331	genome.wustl.edu	37	14	61346553	61346553	+	Splice_Site	SNP	G	G	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr14:61346553G>C	ENST00000261245.4	+	7	910	c.809G>C	c.(808-810)gGg>gCg	p.G270A	MNAT1_ENST00000539616.2_Splice_Site_p.G228A|RP11-193F5.1_ENST00000553946.1_RNA	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	270					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GGAAGACTTGGGTATGTGTCC	0.393								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																								0			14											79	70	73					14																	61346553		2203	4300	6503	60416306	SO:0001630	splice_region_variant	4331			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"RING-type (C3HC4) zinc fingers", "General transcription factor IIH complex subunits"	7181	protein-coding gene	gene with protein product	"CDK-activating kinase assembly factor"	602659	"menage a trois 1 (CAK assembly factor)", "menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.809+1G>C	14.37:g.61346553G>C			60416306	G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	ENST00000261245.4	37	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846305	0.91277	.	.	ENSG00000020426	ENST00000261245;ENST00000539616;ENST00000554002;ENST00000557134	T;T;T	0.56103	0.85;0.6;0.48	5.79	5.79	0.91817	.	0.059267	0.64402	D	0.000002	T	0.70395	0.3219	M	0.80183	2.485	0.80722	D	1	D;D	0.62365	0.987;0.991	P;P	0.58454	0.671;0.839	T	0.67803	-0.5576	10	0.29301	T	0.29	-17.2194	18.2229	0.89907	0.0:0.0:1.0:0.0	.	228;270	G3V1U8;P51948	.;MAT1_HUMAN	A	270;228;165;130	ENSP00000261245:G270A;ENSP00000446437:G228A;ENSP00000451017:G130A	ENSP00000261245:G270A	G	+	2	0	MNAT1	60416306	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.318000	0.79029	2.725000	0.93324	0.557000	0.71058	GGG;GGG;GGA;GGG		0.393	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431	Missense_Mutation	C	61346553	G	C	61346553	5	2	163	1	0	0	0	0	0	0	1	0	9674	1246	43	3	835	3	MNAT1	14	61346553	Splice_Site	SNP	G	TCGA-20-1683-01A-01W-0633-09	10259222	61346553	46002987	56	9178											
SLCO3A1	28232	genome.wustl.edu	37	15	92663776	92663776	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr15:92663776T>C	ENST00000318445.6	+	5	1305	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.V364A	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	364					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GAGATTGCAGTGGTGGCTGGC	0.572																																																0			15											213	190	198					15																	92663776		2198	4298	6496	90464780	SO:0001583	missense	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1091T>C	15.37:g.92663776T>C	ENSP00000320634:p.Val364Ala		90464780	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472540	0.84640	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.80033	-1.33;-1.33	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);	0.062416	0.64402	N	0.000005	T	0.82250	0.4996	L	0.33668	1.02	0.80722	D	1	B;D;D	0.71674	0.42;0.998;0.997	B;D;D	0.77557	0.187;0.99;0.981	T	0.77413	-0.2597	10	0.08837	T	0.75	.	14.8971	0.70651	0.0:0.0:0.0:1.0	.	306;364;364	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	A	364;364;83	ENSP00000320634:V364A;ENSP00000387846:V364A	ENSP00000320634:V364A	V	+	2	0	SLCO3A1	90464780	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.478000	0.81082	1.920000	0.55613	0.477000	0.44152	GTG		0.572	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		C	92663776	T	C	92663776	3	2	163	1	0	0	0	0	1	0	0	0	14731	1696	59	4	1109	4	SLCO3A1	15	92663776	Missense_Mutation	SNP	T	TCGA-20-1683-01A-01W-0633-09		92663776	9867616	57	9179											
ABCC1	4363	genome.wustl.edu	37	16	16205321	16205321	+	Silent	SNP	G	G	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr16:16205321G>T	ENST00000399410.3	+	22	3136	c.2961G>T	c.(2959-2961)gtG>gtT	p.V987V	ABCC1_ENST00000399408.2_Silent_p.V997V|ABCC1_ENST00000345148.5_Silent_p.V987V|ABCC1_ENST00000349029.5_Silent_p.V872V|ABCC1_ENST00000346370.5_Silent_p.V931V|ABCC1_ENST00000351154.5_Silent_p.V928V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	987	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GTAACCATGTGTCCGCGCTGG	0.537																																																0			16											174	182	180					16																	16205321		2059	4199	6258	16112822	SO:0001819	synonymous_variant	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2961G>T	16.37:g.16205321G>T			16112822	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																				0.537	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		T	16205321	G	T	16205321	2	4	163	1	0	0	0	0	0	0	0	1	49	1364	48	3		3	ABCC1	16	16205321	Silent	SNP	G	TCGA-20-1683-01A-01W-0633-09		16205321	74149432	58	9180											
SCARF1	8578	genome.wustl.edu	37	17	1538486	1538486	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr17:1538486G>A	ENST00000263071.4	-	11	2108	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	SCARF1_ENST00000348987.3_Missense_Mutation_p.P601S|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	687	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGTCACAGGGCCCGAGCTC	0.657																																																0			17											39	36	37					17																	1538486		2203	4299	6502	1485236	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2059C>T	17.37:g.1538486G>A	ENSP00000263071:p.Pro687Ser		1485236	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.488163	0.01018	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.18810	2.19;2.85	5.21	-0.408	0.12381	.	0.806745	0.10463	N	0.671743	T	0.08223	0.0205	N	0.03281	-0.365	0.09310	N	1	B;B	0.16603	0.018;0.002	B;B	0.10450	0.005;0.003	T	0.40869	-0.9540	10	0.19590	T	0.45	-0.0797	8.4181	0.32683	0.7556:0.0:0.2444:0.0	.	601;687	Q14162-2;Q14162	.;SREC_HUMAN	S	687;601	ENSP00000263071:P687S;ENSP00000323964:P601S	ENSP00000263071:P687S	P	-	1	0	SCARF1	1485236	0.110000	0.22057	0.003000	0.11579	0.076000	0.17211	0.432000	0.21461	-0.085000	0.12573	-0.300000	0.09419	CCT		0.657	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		A	1538486	G	A	1538486	3	1	163	1	0	0	0	0	1	0	0	0	13886	1232	43	2	437	2	SCARF1	17	1538486	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09		1538486	79656724	59	9181											
TP53	7157	genome.wustl.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr17:7577610T>C	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	AGAGCCAACCTAGGAGATAAC	0.522		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"	53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(1)	17											88	74	79					17																	7577610		2203	4300	6503	7518335	SO:0001630	splice_region_variant	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.673-2A>G	17.37:g.7577610T>C			7518335	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468043	0.63625	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7577610	T	C	7577610	5	2	163	1	0	0	0	0	0	0	1	0	16381	1536	53	4	619	4	TP53	17	7577610	Splice_Site	SNP	T	TCGA-20-1683-01A-01W-0633-09	6039124	7577610	73617600	60	9182											
ARHGEF15	22899	genome.wustl.edu	37	17	8215578	8215578	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr17:8215578C>A	ENST00000361926.3	+	2	331	c.221C>A	c.(220-222)gCt>gAt	p.A74D	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.A74D	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	74	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AAGCCCCCTGCTCTTTTGCCC	0.612																																																0			17											86	83	84					17																	8215578		2203	4300	6503	8156303	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.221C>A	17.37:g.8215578C>A	ENSP00000355026:p.Ala74Asp		8156303	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	CCDS11139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.794|8.794	0.931377|0.931377	0.18131|0.18131	.|.	.|.	ENSG00000198844|ENSG00000198844	ENST00000361926;ENST00000421050|ENST00000455564	T;T|.	0.72615|.	-0.67;-0.67|.	5.01|5.01	3.97|3.97	0.46021|0.46021	.|.	0.293335|.	0.29119|.	N|.	0.013087|.	T|T	0.28599|0.28599	0.0708|0.0708	L|L	0.27053|0.27053	0.805|0.805	0.23487|0.23487	N|N	0.997574|0.997574	D;D|.	0.64830|.	0.994;0.994|.	P;P|.	0.59288|.	0.77;0.855|.	T|T	0.09707|0.09707	-1.0662|-1.0662	10|6	0.62326|0.36615	D|T	0.03|0.2	-22.9722|-22.9722	7.5458|7.5458	0.27766|0.27766	0.0:0.8825:0.0:0.1175|0.0:0.8825:0.0:0.1175	.|.	74;74|.	D3DTR7;O94989|.	.;ARHGF_HUMAN|.	D|I	74|36	ENSP00000355026:A74D;ENSP00000412505:A74D|.	ENSP00000355026:A74D|ENSP00000413324:L36I	A|L	+|+	2|1	0|0	ARHGEF15|ARHGEF15	8156303|8156303	0.819000|0.819000	0.29175|0.29175	0.963000|0.963000	0.40424|0.40424	0.524000|0.524000	0.34500|0.34500	1.328000|1.328000	0.33758|0.33758	2.625000|2.625000	0.88918|0.88918	0.555000|0.555000	0.69702|0.69702	GCT|CTC		0.612	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		A	8215578	C	A	8215578	3	1	163	1	0	0	0	0	1	0	0	0	898	797	28	3	223	3	ARHGEF15	17	8215578	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	637968	8215578	72979632	61	9183											
ZNF18	7566	genome.wustl.edu	37	17	11881349	11881349	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr17:11881349A>C	ENST00000322748.3	-	9	2179	c.1575T>G	c.(1573-1575)tgT>tgG	p.C525W	ZNF18_ENST00000580306.2_Missense_Mutation_p.C525W|ZNF18_ENST00000454073.3_Missense_Mutation_p.C524W|RP11-1096G20.5_ENST00000580270.1_RNA	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	525					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AACTTTTCCCACAGTGCGAAC	0.408																																																0			17											115	115	115					17																	11881349		2203	4300	6503	11822074	SO:0001583	missense	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1575T>G	17.37:g.11881349A>C	ENSP00000315664:p.Cys525Trp		11822074	Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	A	9.680	1.148979	0.21288	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	D	0.85955	-2.05	5.89	-1.97	0.07503	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000012	D	0.93693	0.7985	H	0.97635	4.045	0.50171	D	0.999858	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.92215	0.5779	10	0.87932	D	0	-9.6297	11.2826	0.49203	0.5351:0.0:0.4649:0.0	.	524;525	P17022-2;P17022	.;ZNF18_HUMAN	W	525	ENSP00000315664:C525W	ENSP00000315664:C525W	C	-	3	2	ZNF18	11822074	0.981000	0.34729	0.644000	0.29465	0.815000	0.46073	0.420000	0.21263	-0.669000	0.05289	0.451000	0.29950	TGT		0.408	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		C	11881349	A	C	11881349	3	2	163	1	0	0	0	0	1	0	0	0	17747	157	6	5	78	5	ZNF18	17	11881349	Missense_Mutation	SNP	A	TCGA-20-1683-01A-01W-0633-09	3665771	11881349	69313861	62	9184											
ALDH3A1	218	genome.wustl.edu	37	17	19641670	19641670	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr17:19641670C>T	ENST00000457500.2	-	9	1642	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G365D|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G438D|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G438D|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.G374D	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	438					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GACCTTCAGGCCTTCATCATT	0.637																																																0			17											67	72	70					17																	19641670		2203	4300	6503	19582262	SO:0001583	missense	218			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1313G>A	17.37:g.19641670C>T	ENSP00000411821:p.Gly438Asp		19582262	A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321007	0.23994	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844	T;T;T;T	0.79554	-1.1;-1.28;-1.1;-1.1	4.56	-1.55	0.08558	Aldehyde/histidinol dehydrogenase (1);	0.692618	0.14574	N	0.311282	T	0.51941	0.1704	N	0.04787	-0.16	0.09310	N	1	B;B;B	0.30709	0.004;0.291;0.004	B;B;B	0.27796	0.007;0.083;0.007	T	0.46119	-0.9214	10	0.51188	T	0.08	-12.2265	0.5768	0.00705	0.3032:0.1247:0.3196:0.2525	.	438;555;438	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	D	438;374;496;438;438;365	ENSP00000225740:G438D;ENSP00000378923:G374D;ENSP00000388469:G438D;ENSP00000411821:G438D	ENSP00000225740:G438D	G	-	2	0	ALDH3A1	19582262	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.192000	0.17096	-0.186000	0.10533	-1.265000	0.01443	GGC		0.637	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		T	19641670	C	T	19641670	3	4	163	1	0	0	0	0	1	0	0	0	497	739	26	2	56	2	ALDH3A1	17	19641670	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	7760321	19641670	61553540	63	9185											
GOSR2	9570	genome.wustl.edu	37	17	45008540	45008540	+	Missense_Mutation	SNP	A	A	G	rs34093958		TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr17:45008540A>G	ENST00000393456.2	+	3	227	c.170A>G	c.(169-171)aAg>aGg	p.K57R	GOSR2_ENST00000575949.1_Missense_Mutation_p.K57R|GOSR2_ENST00000415811.2_Missense_Mutation_p.K57R|GOSR2_ENST00000225567.4_Missense_Mutation_p.K57R|GOSR2_ENST00000576910.2_Missense_Mutation_p.K57R|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.K57R|GOSR2_ENST00000439730.2_Missense_Mutation_p.K57R	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	57					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TTGTCCAGCAAGGAGCCCCCT	0.453																																																0			17											69	71	70					17																	45008540		2203	4300	6503	42363539	SO:0001583	missense	9570			AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.170A>G	17.37:g.45008540A>G	ENSP00000377101:p.Lys57Arg		42363539	D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728363	0.89390	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000415811;ENST00000439730	T;T;T;T	0.69040	-0.11;-0.1;-0.37;1.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.992;0.997;0.999	T	0.79147	-0.1923	10	0.42905	T	0.14	-39.1044	16.2026	0.82095	1.0:0.0:0.0:0.0	.	57;57;57;57	E7EQ34;O14653;O14653-2;Q8N4B8	.;GOSR2_HUMAN;.;.	R	57	ENSP00000225567:K57R;ENSP00000377101:K57R;ENSP00000394559:K57R;ENSP00000390577:K57R	ENSP00000225567:K57R	K	+	2	0	GOSR2	42363539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.257000	0.95545	2.285000	0.76669	0.533000	0.62120	AAG		0.453	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			G	45008540	A	G	45008540	3	3	163	1	0	0	0	0	1	0	0	0	6578	72	3	4	180	4	GOSR2	17	45008540	Missense_Mutation	SNP	A	TCGA-20-1683-01A-01W-0633-09	25366870	45008540	36186670	64	9186											
SMAD4	4089	genome.wustl.edu	37	18	48586259	48586259	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr18:48586259T>C	ENST00000342988.3	+	8	1466	c.928T>C	c.(928-930)Ttc>Ctc	p.F310L	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Missense_Mutation_p.F310L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	310	SAD.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGAGCTTGCATTCCAGCCTCC	0.338																																																39	Whole gene deletion(36)|Unknown(3)	pancreas(27)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	18	GRCh37	CI064731	SMAD4	I							122	117	118					18																	48586259		2203	4300	6503	46840257	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.928T>C	18.37:g.48586259T>C	ENSP00000341551:p.Phe310Leu		46840257	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.961076	0.34565	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.96885	-4.16;-4.16	5.58	5.58	0.84498	SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	N	0.25890	0.77	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	D	0.88203	0.2885	10	0.09843	T	0.71	.	14.7241	0.69329	0.0:0.0:0.0:1.0	.	310	Q13485	SMAD4_HUMAN	L	310	ENSP00000341551:F310L;ENSP00000381452:F310L	ENSP00000341551:F310L	F	+	1	0	SMAD4	46840257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.713000	0.84693	2.114000	0.64651	0.528000	0.53228	TTC		0.338	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		C	48586259	T	C	48586259	3	2	163	1	0	0	0	0	1	0	0	0	14763	1493	52	4	954	4	SMAD4	18	48586259	Missense_Mutation	SNP	T	TCGA-20-1683-01A-01W-0633-09		48586259	29490989	65	9187											
SERPINB2	5055	genome.wustl.edu	37	18	61570359	61570359	+	Silent	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr18:61570359C>T	ENST00000299502.4	+	8	1148	c.1068C>T	c.(1066-1068)caC>caT	p.H356H	SERPINB2_ENST00000457692.1_Silent_p.H356H	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	356					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	AAGTGTTCCACCAAGCCATGG	0.542																																																0			18											130	108	116					18																	61570359		2203	4300	6503	59721339	SO:0001819	synonymous_variant	5055			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1068C>T	18.37:g.61570359C>T			59721339	Q96E96	Silent	SNP	ENST00000299502.4	37	CCDS11989.1																																																																																				0.542	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		T	61570359	C	T	61570359	2	4	163	1	0	0	0	0	0	0	0	1	14104	506	18	2		2	SERPINB2	18	61570359	Silent	SNP	C	TCGA-20-1683-01A-01W-0633-09	12984100	61570359	16506889	66	9188											
SLC25A23	79085	genome.wustl.edu	37	19	6456498	6456498	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr19:6456498C>T	ENST00000301454.4	-	4	522	c.416G>A	c.(415-417)cGc>cAc	p.R139H	SLC25A23_ENST00000334510.5_Missense_Mutation_p.R139H|SLC25A23_ENST00000414491.2_5'Flank	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	139	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GAAGTGGTCGCGCCATTCTTG	0.587																																																0			19											166	123	138					19																	6456498		2203	4300	6503	6407498	SO:0001583	missense	79085			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.416G>A	19.37:g.6456498C>T	ENSP00000301454:p.Arg139His		6407498	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122882	0.94429	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	T;T;T	0.71579	-0.58;-0.58;-0.58	4.86	4.86	0.63082	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	M	0.90922	3.16	0.54753	D	0.999985	D	0.89917	1.0	D	0.79784	0.993	D	0.90468	0.4451	10	0.87932	D	0	-12.0441	16.7336	0.85442	0.0:1.0:0.0:0.0	.	139	Q9BV35	SCMC3_HUMAN	H	139	ENSP00000264088:R139H;ENSP00000301454:R139H;ENSP00000334537:R139H	ENSP00000264088:R139H	R	-	2	0	SLC25A23	6407498	1.000000	0.71417	0.921000	0.36526	0.957000	0.61999	7.390000	0.79816	2.251000	0.74343	0.491000	0.48974	CGC		0.587	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		T	6456498	C	T	6456498	3	4	163	1	0	0	0	0	1	0	0	0	14489	768	27	1	1018	1	SLC25A23	19	6456498	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09		6456498	52672485	67	9189											
ZNF699	374879	genome.wustl.edu	37	19	9407394	9407394	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr19:9407394C>A	ENST00000591998.1	-	6	914	c.686G>T	c.(685-687)gGg>gTg	p.G229V	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.G229V			Q32M78	ZN699_HUMAN	zinc finger protein 699	229					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)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGGCCTTCCCACATTCCTT	0.453																																																0			19											140	132	135					19																	9407394		2063	4228	6291	9268394	SO:0001583	missense	374879			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.686G>T	19.37:g.9407394C>A	ENSP00000467723:p.Gly229Val		9268394	Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247728	0.39697	.	.	ENSG00000196110	ENST00000308650	T	0.22134	1.97	3.69	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36519	N	0.002558	T	0.53498	0.1800	H	0.94423	3.535	0.44000	D	0.996704	D	0.69078	0.997	D	0.71184	0.972	T	0.66015	-0.6028	10	0.87932	D	0	.	11.3778	0.49739	0.0:0.8143:0.1857:0.0	.	229	Q32M78	ZN699_HUMAN	V	229	ENSP00000311596:G229V	ENSP00000311596:G229V	G	-	2	0	ZNF699	9268394	0.922000	0.31269	0.600000	0.28864	0.397000	0.30659	2.283000	0.43470	1.120000	0.41904	0.555000	0.69702	GGG		0.453	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		A	9407394	C	A	9407394	3	1	163	1	0	0	0	0	1	0	0	0	18101	623	22	3	1246	3	ZNF699	19	9407394	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	2950896	9407394	49721589	68	9190											
CD97	976	genome.wustl.edu	37	19	14516748	14516748	+	Silent	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr19:14516748C>T	ENST00000242786.5	+	14	1898	c.1818C>T	c.(1816-1818)ggC>ggT	p.G606G	CD97_ENST00000357355.3_Silent_p.G557G|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.G513G	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	606					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACGAAGGCGGCCAGGTGAGGT	0.701																																																0			19											37	31	33					19																	14516748		2203	4300	6503	14377748	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1818C>T	19.37:g.14516748C>T			14377748	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	CCDS32929.1																																																																																				0.701	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		T	14516748	C	T	14516748	2	4	163	1	0	0	0	0	0	0	0	1	3049	726	26	2		2	CD97	19	14516748	Silent	SNP	C	TCGA-20-1683-01A-01W-0633-09	5109354	14516748	44612235	69	9191											
CYP4F2	8529	genome.wustl.edu	37	19	16000338	16000338	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr19:16000338G>C	ENST00000221700.6	-	7	908	c.813C>G	c.(811-813)atC>atG	p.I271M	CYP4F2_ENST00000011989.7_Missense_Mutation_p.I122M	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCGCTCCTGGATGACGGCAT	0.557																																																0			19											97	93	95					19																	16000338		2203	4300	6503	15861338	SO:0001583	missense	8529			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.813C>G	19.37:g.16000338G>C	ENSP00000221700:p.Ile271Met		15861338		Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	13.29	2.192734	0.38707	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.73363	-0.74;1.19	2.72	1.66	0.24008	.	0.235592	0.27206	U	0.020435	D	0.85261	0.5656	M	0.92219	3.285	0.29075	N	0.883078	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.988	T	0.77135	-0.2699	10	0.87932	D	0	.	3.3801	0.07251	0.1466:0.0:0.6021:0.2513	.	122;271	B4DV75;P78329	.;CP4F2_HUMAN	M	271;122;122	ENSP00000221700:I271M;ENSP00000011989:I122M	ENSP00000011989:I122M	I	-	3	3	CYP4F2	15861338	0.998000	0.40836	0.896000	0.35187	0.802000	0.45316	0.208000	0.17415	0.454000	0.26884	0.305000	0.20034	ATC		0.557	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		C	16000338	G	C	16000338	3	2	163	1	0	0	0	0	1	0	0	0	4188	1164	41	3	777	3	CYP4F2	19	16000338	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	1483590	16000338	43128645	70	9192											
CHGB	1114	genome.wustl.edu	37	20	5904368	5904368	+	Silent	SNP	C	C	T	rs138422072	byFrequency	TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr20:5904368C>T	ENST00000378961.4	+	4	1782	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	526						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACCCATACTACGACCCTCTCC	0.438																																																0			20						C		0,4406		0,0,2203	68	70	69		1578	-5.1	0	20	dbSNP_134	69	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	CHGB	NM_001819.2		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		526/678	5904368	7,12999	2203	4300	6503	5852368	SO:0001819	synonymous_variant	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1578C>T	20.37:g.5904368C>T			5852368	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	CCDS13092.1																																																																																				0.438	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5904368	C	T	5904368	2	4	163	1	0	0	0	0	0	0	0	1	3339	547	19	1		1	CHGB	20	5904368	Silent	SNP	C	TCGA-20-1683-01A-01W-0633-09		5904368	57121152	71	9193											
RIN2	54453	genome.wustl.edu	37	20	19970881	19970881	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr20:19970881A>G	ENST00000255006.6	+	9	2290	c.2141A>G	c.(2140-2142)tAt>tGt	p.Y714C	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.Y232C	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	665	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CAGAAGATGTATTCGCCGGAA	0.547																																																0			20											47	48	48					20																	19970881		2030	4197	6227	19918881	SO:0001583	missense	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2141A>G	20.37:g.19970881A>G	ENSP00000255006:p.Tyr714Cys		19918881	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419761	0.83559	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.30448	1.53;1.53	5.83	5.83	0.93111	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52808	-0.8526	9	.	.	.	-16.3183	15.8552	0.78972	1.0:0.0:0.0:0.0	.	232;665	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	C	714;232	ENSP00000255006:Y714C;ENSP00000391239:Y232C	.	Y	+	2	0	RIN2	19918881	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.339000	0.96797	2.225000	0.72522	0.482000	0.46254	TAT		0.547	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			G	19970881	A	G	19970881	3	3	163	1	0	0	0	0	1	0	0	0	13375	449	16	4	2024	4	RIN2	20	19970881	Missense_Mutation	SNP	A	TCGA-20-1683-01A-01W-0633-09	14066513	19970881	43054639	72	9194											
SULF2	55959	genome.wustl.edu	37	20	46294691	46294691	+	Silent	SNP	G	G	A	rs79982126	byFrequency	TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr20:46294691G>A	ENST00000359930.4	-	13	2663	c.1812C>T	c.(1810-1812)taC>taT	p.Y604Y	SULF2_ENST00000484875.1_Silent_p.Y604Y|SULF2_ENST00000467815.1_Silent_p.Y604Y|SULF2_ENST00000361612.4_Silent_p.Y604Y	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	604					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCTCTAGGATGTAGCACCTGC	0.602													G|||	34	0.00678914	8e-04	0.0072	5008	,	,		23770	0		0.0189	False		,,,				2504	0.0092															0			20						G	,,	16,4390	24.3+/-50.5	0,16,2187	206	172	184		1812,1812,1812	4.2	1	20	dbSNP_132	184	84,8516	48.9+/-108.6	0,84,4216	no	coding-synonymous,coding-synonymous,coding-synonymous	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	,,	0,100,6403	AA,AG,GG		0.9767,0.3631,0.7689	,,	604/871,604/871,604/868	46294691	100,12906	2203	4300	6503	45728098	SO:0001819	synonymous_variant	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1812C>T	20.37:g.46294691G>A			45728098	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	CCDS13408.1																																																																																				0.602	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46294691	G	A	46294691	2	1	163	1	0	0	0	0	0	0	0	1	15373	1372	48	2		2	SULF2	20	46294691	Silent	SNP	G	TCGA-20-1683-01A-01W-0633-09	26323810	46294691	16730829	73	9195											
C20orf135	140701	genome.wustl.edu	37	20	62493574	62493574	+	Silent	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr20:62493574C>T	ENST00000369916.3	+	1	1009	c.681C>T	c.(679-681)gtC>gtT	p.V227V	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	227							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						ACGTGGTGGTCGAGTACGCAC	0.687																																																0			20											41	35	37					20																	62493574		2201	4299	6500	61964018	SO:0001819	synonymous_variant	140701				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.681C>T	20.37:g.62493574C>T			61964018		Silent	SNP	ENST00000369916.3	37	CCDS13539.1																																																																																				0.687	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			T	62493574	C	T	62493574	2	4	163	1	0	0	0	0	0	0	0	1	2088	871	31	1		1	C20orf135	20	62493574	Silent	SNP	C	TCGA-20-1683-01A-01W-0633-09	16198883	62493574	531946	74	9196											
IFNGR2	3460	genome.wustl.edu	37	21	34787247	34787247	+	Silent	SNP	C	C	T	rs376457511		TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr21:34787247C>T	ENST00000290219.6	+	2	774	c.126C>T	c.(124-126)aaC>aaT	p.N42N	IFNGR2_ENST00000381995.1_Silent_p.N61N|IFNGR2_ENST00000405436.1_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	42	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GCCTGTACAACGCAGAGCAGG	0.547													C|||	1	0.000199681	0	0	5008	,	,		17540	0.001		0	False		,,,				2504	0															0			21						C		0,4406		0,0,2203	83	82	82		126	-2.3	0	21		82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IFNGR2	NM_005534.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		42/338	34787247	2,13004	2203	4300	6503	33709117	SO:0001819	synonymous_variant	3460				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.126C>T	21.37:g.34787247C>T			33709117	Q9BTL5	Silent	SNP	ENST00000290219.6	37	CCDS33544.1																																																																																				0.547	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			T	34787247	C	T	34787247	2	4	163	1	0	0	0	0	0	0	0	1	7550	535	19	1		1	IFNGR2	21	34787247	Silent	SNP	C	TCGA-20-1683-01A-01W-0633-09		34787247	13342648	75	9197											
DOPEY2	9980	genome.wustl.edu	37	21	37660369	37660369	+	Missense_Mutation	SNP	T	T	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr21:37660369T>G	ENST00000399151.3	+	33	6303	c.6218T>G	c.(6217-6219)tTt>tGt	p.F2073C		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2073					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTCAGATGTTTCTTTTTTTC	0.373																																																0			21											183	168	173					21																	37660369		2203	4300	6503	36582239	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6218T>G	21.37:g.37660369T>G	ENSP00000382104:p.Phe2073Cys		36582239	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759960	0.69763	.	.	ENSG00000142197	ENST00000399151	T	0.49720	0.77	5.41	5.41	0.78517	.	0.049231	0.85682	D	0.000000	T	0.69070	0.3070	M	0.86178	2.8	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.943	T	0.74352	-0.3693	10	0.87932	D	0	-18.8072	10.654	0.45665	0.1429:0.0:0.0:0.8571	.	2066;2073	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	C	2073	ENSP00000382104:F2073C	ENSP00000382104:F2073C	F	+	2	0	DOPEY2	36582239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.685000	0.68204	2.052000	0.61016	0.533000	0.62120	TTT		0.373	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		G	37660369	T	G	37660369	3	3	163	1	0	0	0	0	1	0	0	0	4708	1841	64	5	6344	5	DOPEY2	21	37660369	Missense_Mutation	SNP	T	TCGA-20-1683-01A-01W-0633-09	2873122	37660369	10469526	76	9198											
C22orf9	23313	genome.wustl.edu	37	22	45601674	45601674	+	Splice_Site	SNP	C	C	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chr22:45601674C>T	ENST00000336156.5	-	3	401	c.336G>A	c.(334-336)aaG>aaA	p.K112K	KIAA0930_ENST00000443310.3_Splice_Site_p.K94K|KIAA0930_ENST00000251993.7_Splice_Site_p.K117K|KIAA0930_ENST00000391627.2_Splice_Site_p.K78K	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	112										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CACCCCATACCTTCTGCAGGA	0.632																																																0			22											28	27	27					22																	45601674		2203	4299	6502	43980338	SO:0001630	splice_region_variant	23313			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.336+1G>A	22.37:g.45601674C>T			43980338	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Silent	SNP	ENST00000336156.5	37	CCDS33665.1																																																																																				0.632	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880	Silent	T	45601674	C	T	45601674	5	4	163	1	0	0	0	0	0	0	1	0	2151	695	24	2	910	2	C22orf9	22	45601674	Splice_Site	SNP	C	TCGA-20-1683-01A-01W-0633-09		45601674	5702892	77	9199											
LONRF3	79836	genome.wustl.edu	37	X	118145901	118145901	+	Silent	SNP	A	A	G			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chrX:118145901A>G	ENST00000371628.3	+	8	1807	c.1776A>G	c.(1774-1776)agA>agG	p.R592R	LONRF3_ENST00000422289.2_Silent_p.R336R|LONRF3_ENST00000304778.7_Silent_p.R551R|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	592	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAGGCACGAGACAGTTTGGCA	0.502																																																0			X											202	142	162					X																	118145901		2203	4300	6503	118029929	SO:0001819	synonymous_variant	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1776A>G	X.37:g.118145901A>G			118029929	Q5JPN6|Q8NB00|Q9H647	Silent	SNP	ENST00000371628.3	37	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	A	9.983	1.228631	0.22542	.	.	ENSG00000175556	ENST00000439603	.	.	.	5.92	-1.02	0.10135	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.34349	D	0.68959	.	.	.	.	.	.	T	0.57952	-0.7722	4	.	.	.	-35.4074	11.3944	0.49832	0.5307:0.0:0.4693:0.0	.	.	.	.	A	358	.	.	T	+	1	0	LONRF3	118029929	0.310000	0.24527	0.722000	0.30670	0.981000	0.71138	-0.121000	0.10643	-0.192000	0.10432	0.481000	0.45027	ACA		0.502	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		G	118145901	A	G	118145901	2	3	163	1	0	0	0	0	0	0	0	1	8896	272	10	4		4	LONRF3	23	118145901	Silent	SNP	A	TCGA-20-1683-01A-01W-0633-09		118145901	37124659	78	9200											
KIAA1210	57481	genome.wustl.edu	37	X	118221702	118221702	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chrX:118221702C>A	ENST00000402510.2	-	11	3490	c.3491G>T	c.(3490-3492)aGg>aTg	p.R1164M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1164										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AACTTTAGACCTCTTTAAGAA	0.483																																																0			X											60	55	57					X																	118221702		1863	4095	5958	118105730	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3491G>T	X.37:g.118221702C>A	ENSP00000384670:p.Arg1164Met		118105730	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.08|14.08	2.428378|2.428378	0.43122|0.43122	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.16073	.|2.37	4.43|4.43	-3.38|-3.38	0.04883|0.04883	.|.	.|.	.|.	.|.	.|.	T|T	0.25306|0.25306	0.0615|0.0615	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.64776	.|0.929	T|T	0.18461|0.18461	-1.0336|-1.0336	5|9	.|0.52906	.|T	.|0.07	.|.	11.1434|11.1434	0.48415|0.48415	0.0:0.2795:0.0:0.7205|0.0:0.2795:0.0:0.7205	.|.	.|1164	.|Q9ULL0	.|K1210_HUMAN	D|M	570|1164	.|ENSP00000384670:R1164M	.|ENSP00000384670:R1164M	E|R	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118105730|118105730	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-0.760000|-0.760000	0.04756|0.04756	-1.039000|-1.039000	0.03275|0.03275	-0.340000|-0.340000	0.08031|0.08031	GAG|AGG		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		A	118221702	C	A	118221702	3	1	163	1	0	0	0	0	1	0	0	0	8214	681	24	3	1654	3	KIAA1210	23	118221702	Missense_Mutation	SNP	C	TCGA-20-1683-01A-01W-0633-09	75801	118221702	37048858	79	9201											
MCTS1	28985	genome.wustl.edu	37	X	119746083	119746083	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chrX:119746083A>T	ENST00000371317.5	+	6	767	c.510A>T	c.(508-510)ttA>ttT	p.L170F	MCTS1_ENST00000371315.3_Missense_Mutation_p.L171F|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	170	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TCCATTATTTAAATGATGGGC	0.338																																																0			X											112	113	113					X																	119746083		2203	4300	6503	119630111	SO:0001583	missense	28985			AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.510A>T	X.37:g.119746083A>T	ENSP00000360367:p.Leu170Phe		119630111	B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.790131	0.70337	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	D;D	0.93953	-3.32;-3.32	5.76	5.76	0.90799	Uncharacterised domain CHP00451 (1);Pseudouridine synthase/archaeosine transglycosylase (3);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98686	1.0694	9	.	.	.	-3.6512	14.1021	0.65062	1.0:0.0:0.0:0.0	.	171;170	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	F	170;171	ENSP00000360367:L170F;ENSP00000360365:L171F	.	L	+	3	2	MCTS1	119630111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.917000	0.39996	1.928000	0.55862	0.486000	0.48141	TTA		0.338	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		T	119746083	A	T	119746083	3	4	163	1	0	0	0	0	1	0	0	0	9402	359	13	5	550	5	MCTS1	23	119746083	Missense_Mutation	SNP	A	TCGA-20-1683-01A-01W-0633-09	1524381	119746083	35524477	80	9202											
MAGEC1	9947	genome.wustl.edu	37	X	140994936	140994936	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1683-01A-01W-0633-09	TCGA-20-1683-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a2a29b1-e68e-45c0-b314-389dd1084b6c	131ac6ab-2fad-4fbd-aa6a-2df3e8c05364	g.chrX:140994936G>T	ENST00000285879.4	+	4	2032	c.1746G>T	c.(1744-1746)caG>caT	p.Q582H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	582										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTCCTCAGAGCCCTCAGG	0.592										HNSCC(15;0.026)																																						0			X											234	252	246					X																	140994936		2203	4300	6503	140822602	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1746G>T	X.37:g.140994936G>T	ENSP00000285879:p.Gln582His		140822602	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	7.056	0.565384	0.13498	.	.	ENSG00000155495	ENST00000285879	T	0.02177	4.41	0.92	-1.84	0.07809	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	P	0.51240	0.943	D	0.66979	0.948	T	0.44390	-0.9331	9	0.87932	D	0	.	6.681	0.23119	0.0:0.0:0.726:0.274	.	582	O60732	MAGC1_HUMAN	H	582	ENSP00000285879:Q582H	ENSP00000285879:Q582H	Q	+	3	2	MAGEC1	140822602	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-1.102000	0.03332	-1.270000	0.02433	-1.274000	0.01402	CAG		0.592	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140994936	G	T	140994936	3	4	163	1	0	0	0	0	1	0	0	0	9180	933	33	3	1752	3	MAGEC1	23	140994936	Missense_Mutation	SNP	G	TCGA-20-1683-01A-01W-0633-09	21248853	140994936	14275624	81	9203											
FAM102B	284611	genome.wustl.edu	37	1	109143283	109143283	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr1:109143283G>T	ENST00000370035.3	+	2	573	c.233G>T	c.(232-234)tGt>tTt	p.C78F	FAM102B_ENST00000405454.1_Missense_Mutation_p.C78F	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	78										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CTAGATCCTTGTATCTACAGA	0.423																																																0			1											106	100	102					1																	109143283		2203	4300	6503	108944806	SO:0001583	missense	284611			CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.233G>T	1.37:g.109143283G>T	ENSP00000359052:p.Cys78Phe		108944806	A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625007	0.87560	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.45668	0.89;0.89	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.71434	-0.4594	10	0.54805	T	0.06	-11.9928	19.0648	0.93106	0.0:0.0:1.0:0.0	.	78	Q5T8I3	F102B_HUMAN	F	78	ENSP00000359052:C78F;ENSP00000386084:C78F	ENSP00000359052:C78F	C	+	2	0	FAM102B	108944806	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	9.008000	0.93601	2.671000	0.90904	0.557000	0.71058	TGT		0.423	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		T	109143283	G	T	109143283	3	4	164	1	0	0	0	0	1	0	0	0	5383	1377	48	3	239	3	FAM102B	1	109143283	Missense_Mutation	SNP	G	TCGA-20-1684-01A-01W-0633-09		109143283	140107338	1	9204											
HIPK1	204851	genome.wustl.edu	37	1	114483657	114483662	+	In_Frame_Del	DEL	ATTAAA	ATTAAA	-			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	ATTAAA	ATTAAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr1:114483657_114483662delATTAAA	ENST00000369558.1	+	2	884_889	c.652_657delATTAAA	c.(652-657)attaaadel	p.IK218del	HIPK1_ENST00000426820.2_In_Frame_Del_p.IK218del|HIPK1_ENST00000369559.4_In_Frame_Del_p.IK218del|HIPK1_ENST00000369554.2_In_Frame_Del_p.IK218del|HIPK1_ENST00000369561.4_In_Frame_Del_p.IK218del|HIPK1_ENST00000369555.2_In_Frame_Del_p.IK218del			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTGTGGCTATTAAAATCTTGAAGA	0.466																																																0			1																																								114285185	SO:0001651	inframe_deletion	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.652_657delATTAAA	1.37:g.114483657_114483662delATTAAA	ENSP00000358571:p.Ile218_Lys219del		114285180	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	In_Frame_Del	DEL	ENST00000369558.1	37	CCDS867.1																																																																																				0.466	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		-	114483662	ATTAAA	-	114483657	7	5	164	1	0	1	0	1	0	0	0	0	7116	449	16	0	654	0	HIPK1	1	114483657	In_Frame_Del	DEL	ATTAAA	TCGA-20-1684-01A-01W-0633-09	5340374	114483657	134766964	2	9205											
SCN2A	6326	genome.wustl.edu	37	2	166172039	166172039	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr2:166172039G>A	ENST00000375437.2	+	11	1732	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	SCN2A_ENST00000357398.3_Missense_Mutation_p.G481E|SCN2A_ENST00000283256.6_Missense_Mutation_p.G481E|SCN2A_ENST00000375427.2_Missense_Mutation_p.G481E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	481					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTGGGATAGGAGTTTTTTCA	0.423																																																0			2											66	71	70					2																	166172039		2203	4299	6502	165880285	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1442G>A	2.37:g.166172039G>A	ENSP00000364586:p.Gly481Glu		165880285	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978098	0.53720	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96136	-3.92;-3.85;-3.85;-3.85;-3.85	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000009	D	0.95890	0.8662	L	0.36672	1.1	0.39620	D	0.970016	B;D	0.89917	0.378;1.0	B;D	0.97110	0.272;1.0	D	0.95172	0.8291	10	0.39692	T	0.17	.	13.4661	0.61254	0.0709:0.0:0.9291:0.0	.	481;481	Q99250-2;Q99250	.;SCN2A_HUMAN	E	481	ENSP00000406454:G481E;ENSP00000364586:G481E;ENSP00000349973:G481E;ENSP00000283256:G481E;ENSP00000364576:G481E	ENSP00000283256:G481E	G	+	2	0	SCN2A	165880285	0.996000	0.38824	0.206000	0.23566	0.566000	0.35808	4.086000	0.57664	2.788000	0.95919	0.650000	0.86243	GGA		0.423	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		A	166172039	G	A	166172039	3	1	164	1	0	0	0	0	1	0	0	0	13919	1174	41	2	1576	2	SCN2A	2	166172039	Missense_Mutation	SNP	G	TCGA-20-1684-01A-01W-0633-09		166172039	77027334	3	9206											
SSFA2	6744	genome.wustl.edu	37	2	182765588	182765588	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr2:182765588G>T	ENST00000431877.2	+	7	848	c.669G>T	c.(667-669)caG>caT	p.Q223H	SSFA2_ENST00000409001.1_Missense_Mutation_p.Q223H|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q70H|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q223H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	223						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGAGTGCTCAGATGCAACGGA	0.318																																																0			2											58	60	59					2																	182765588		2203	4299	6502	182473833	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.669G>T	2.37:g.182765588G>T	ENSP00000388731:p.Gln223His		182473833	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444227	0.63067	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.30981	1.85;1.61;1.83;1.51	5.97	-8.24	0.01029	.	0.055211	0.64402	D	0.000001	T	0.51601	0.1684	M	0.76002	2.32	0.38076	D	0.936534	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.994;0.994;0.996	T	0.70110	-0.4962	10	0.66056	D	0.02	-14.4297	21.9459	0.99964	0.3195:0.0:0.6805:0.0	.	70;223;223;223	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	H	223;223;223;70	ENSP00000388731:Q223H;ENSP00000314669:Q223H;ENSP00000387319:Q223H;ENSP00000409867:Q70H	ENSP00000314669:Q223H	Q	+	3	2	SSFA2	182473833	0.633000	0.27181	0.494000	0.27515	0.996000	0.88848	-0.025000	0.12413	-2.019000	0.00942	-0.137000	0.14449	CAG		0.318	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		T	182765588	G	T	182765588	3	4	164	1	0	0	0	0	1	0	0	0	15185	933	33	3	695	3	SSFA2	2	182765588	Missense_Mutation	SNP	G	TCGA-20-1684-01A-01W-0633-09	16593549	182765588	60433785	4	9207											
DNAJB3	54578	genome.wustl.edu	37	2	234652364	234652364	+	Intron	SNP	G	G	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr2:234652364G>A	ENST00000305139.6	+	2	1000				UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TCGCCATAGCGGTCATAGATA	0.622																																																0			2											120	132	128					2																	234652364		2032	4197	6229	234317103	SO:0001627	intron_variant	414061			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23316G>A	2.37:g.234652364G>A			234317103	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1																																																																																				0.622	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		A	234652364	G	A	234652364	1	1	164	0	1	0	0	0	0	0	0	0	4621	1116	39	1		1	DNAJB3	2	234652364	Intron	SNP	G	TCGA-20-1684-01A-01W-0633-09	51886776	234652364	8547009	5	9208											
ATP2B2	491	genome.wustl.edu	37	3	10443904	10443904	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr3:10443904C>G	ENST00000352432.4	-	3	595	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	ATP2B2_ENST00000383800.4_Missense_Mutation_p.E176Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E176Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E176Q|ATP2B2_ENST00000397077.1_Missense_Mutation_p.E176Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	176					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AACTGTTTCTCTTTGCTCCAG	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)											0			3											131	141	138					3																	10443904		2203	4300	6503	10418904	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.526G>C	3.37:g.10443904C>G	ENSP00000324172:p.Glu176Gln		10418904	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156244	0.94686	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.43	5.43	0.79202	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.65975	2.015	0.80722	D	1	D;P;D	0.76494	0.999;0.932;0.994	D;P;D	0.83275	0.996;0.812;0.958	D	0.94681	0.7865	10	0.54805	T	0.06	-40.3579	19.2437	0.93893	0.0:1.0:0.0:0.0	.	176;188;176	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	Q	176;176;176;176;176;142;63;176	ENSP00000324172:E176Q;ENSP00000373311:E176Q;ENSP00000380267:E176Q;ENSP00000353414:E176Q;ENSP00000344677:E176Q;ENSP00000414854:E63Q	ENSP00000342954:E176Q	E	-	1	0	ATP2B2	10418904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.527000	0.85204	0.563000	0.77884	GAG		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		G	10443904	C	G	10443904	3	3	164	1	0	0	0	0	1	0	0	0	1140	922	32	3	3285	3	ATP2B2	3	10443904	Missense_Mutation	SNP	C	TCGA-20-1684-01A-01W-0633-09		10443904	187578526	6	9209											
ATXN7	6314	genome.wustl.edu	37	3	63981813	63981813	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr3:63981813A>G	ENST00000295900.6	+	12	2865	c.2315A>G	c.(2314-2316)cAt>cGt	p.H772R	ATXN7_ENST00000487717.1_Missense_Mutation_p.H772R|ATXN7_ENST00000398590.3_Missense_Mutation_p.H772R|ATXN7_ENST00000484332.1_Missense_Mutation_p.H627R|ATXN7_ENST00000538065.1_Missense_Mutation_p.H772R	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	772	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AACGTCCGGCATGACCAGTCA	0.562																																																0			3											53	54	54					3																	63981813		1931	4123	6054	63956853	SO:0001583	missense	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2315A>G	3.37:g.63981813A>G	ENSP00000295900:p.His772Arg		63956853	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.323746	0.24080	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.5	4.94	4.94	0.65067	.	0.112603	0.64402	D	0.000009	T	0.15565	0.0375	L	0.56769	1.78	0.39530	D	0.968656	P;P;P	0.40578	0.722;0.617;0.483	B;B;B	0.37198	0.243;0.173;0.084	T	0.07462	-1.0771	10	0.27785	T	0.31	-9.7073	14.9585	0.71138	1.0:0.0:0.0:0.0	.	627;772;772	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	R	772;772;772;772;627	ENSP00000381590:H772R;ENSP00000295900:H772R;ENSP00000420234:H772R;ENSP00000439585:H772R;ENSP00000428277:H627R	ENSP00000295900:H772R	H	+	2	0	ATXN7	63956853	1.000000	0.71417	0.988000	0.46212	0.131000	0.20780	3.574000	0.53863	1.996000	0.58369	0.529000	0.55759	CAT		0.562	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		G	63981813	A	G	63981813	3	3	164	1	0	0	0	0	1	0	0	0	1215	217	8	4	2421	4	ATXN7	3	63981813	Missense_Mutation	SNP	A	TCGA-20-1684-01A-01W-0633-09	53537909	63981813	134040617	7	9210											
A4GNT	51146	genome.wustl.edu	37	3	137843622	137843622	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr3:137843622A>C	ENST00000236709.3	-	3	708	c.507T>G	c.(505-507)gaT>gaG	p.D169E		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	169					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGGAGATGACATCGGTGTCCA	0.547																																																0			3											88	87	87					3																	137843622		2203	4300	6503	139326312	SO:0001583	missense	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.507T>G	3.37:g.137843622A>C	ENSP00000236709:p.Asp169Glu		139326312	Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251320	0.80135	.	.	ENSG00000118017	ENST00000236709	D	0.98329	-4.87	5.27	-3.48	0.04739	Glycosyltransferase, DXD sugar-binding motif (1);	0.000000	0.64402	D	0.000001	D	0.98998	0.9658	H	0.95402	3.665	0.38058	D	0.935978	D	0.89917	1.0	D	0.97110	1.0	D	0.99873	1.1099	10	0.87932	D	0	-21.5869	13.4562	0.61199	0.4483:0.0:0.5517:0.0	.	169	Q9UNA3	A4GCT_HUMAN	E	169	ENSP00000236709:D169E	ENSP00000236709:D169E	D	-	3	2	A4GNT	139326312	0.040000	0.19996	0.714000	0.30535	0.994000	0.84299	-0.151000	0.10175	-0.548000	0.06199	0.460000	0.39030	GAT		0.547	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		C	137843622	A	C	137843622	3	2	164	1	0	0	0	0	1	0	0	0	7	214	8	5	519	5	A4GNT	3	137843622	Missense_Mutation	SNP	A	TCGA-20-1684-01A-01W-0633-09	73861809	137843622	60178808	8	9211											
FXR1	8087	genome.wustl.edu	37	3	180680825	180680825	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr3:180680825C>T	ENST00000357559.4	+	13	1529	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	FXR1_ENST00000468861.1_Missense_Mutation_p.S297F|FXR1_ENST00000305586.7_Missense_Mutation_p.S297F|FXR1_ENST00000480918.1_Missense_Mutation_p.S369F|FXR1_ENST00000445140.2_Missense_Mutation_p.S382F|FXR1_ENST00000491062.1_Missense_Mutation_p.S333F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	382					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGTTCTAGGTCTTATAGCGGA	0.393																																																0			3											155	159	158					3																	180680825		2203	4300	6503	182163519	SO:0001583	missense	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1145C>T	3.37:g.180680825C>T	ENSP00000350170:p.Ser382Phe		182163519	A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084632	0.76642	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.22	5.22	0.72569	.	0.050484	0.85682	D	0.000000	T	0.53818	0.1820	L	0.40543	1.245	0.58432	D	0.999995	D;D;D;D;P;D	0.76494	0.991;0.978;0.978;0.999;0.941;0.99	P;P;P;D;P;P	0.87578	0.877;0.878;0.878;0.998;0.735;0.892	T	0.53995	-0.8359	10	0.59425	D	0.04	-26.9574	19.1372	0.93433	0.0:1.0:0.0:0.0	.	369;333;297;326;382;382	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	F	382;297;333;297;382;369	ENSP00000350170:S382F;ENSP00000307633:S297F;ENSP00000420643:S333F;ENSP00000420515:S297F;ENSP00000388828:S382F;ENSP00000418097:S369F	ENSP00000307633:S297F	S	+	2	0	FXR1	182163519	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.201000	0.65163	2.596000	0.87737	0.467000	0.42956	TCT		0.393	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			T	180680825	C	T	180680825	3	4	164	1	0	0	0	0	1	0	0	0	6115	913	32	2	1195	2	FXR1	3	180680825	Missense_Mutation	SNP	C	TCGA-20-1684-01A-01W-0633-09	42837203	180680825	17341605	9	9212											
HIST1H2BD	3017	genome.wustl.edu	37	6	26158404	26158404	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr6:26158404G>C	ENST00000289316.2	+	1	31	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E3Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	3					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TACGATGCCTGAACCTACCAA	0.507																																																0			6											89	90	90					6																	26158404		2203	4300	6503	26266383	SO:0001583	missense	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.7G>C	6.37:g.26158404G>C	ENSP00000289316:p.Glu3Gln		26266383		Missense_Mutation	SNP	ENST00000289316.2	37	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.151004	0.57151	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.18657	2.2;2.2	5.13	5.13	0.70059	.	0.325448	0.21773	N	0.069324	T	0.24812	0.0602	L	0.61387	1.9	0.47905	D	0.999546	B	0.33413	0.411	P	0.44772	0.46	T	0.02081	-1.1217	10	0.72032	D	0.01	.	16.1409	0.81522	0.0:0.0:1.0:0.0	.	3	P58876	H2B1D_HUMAN	Q	3	ENSP00000367008:E3Q;ENSP00000289316:E3Q	ENSP00000289316:E3Q	E	+	1	0	HIST1H2BD	26266383	1.000000	0.71417	0.751000	0.31187	0.029000	0.11900	6.327000	0.72910	2.769000	0.95229	0.650000	0.86243	GAA		0.507	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		C	26158404	G	C	26158404	3	2	164	1	0	0	0	0	1	0	0	0	7143	1291	45	3	9	3	HIST1H2BD	6	26158404	Missense_Mutation	SNP	G	TCGA-20-1684-01A-01W-0633-09		26158404	144956663	10	9213											
VARS	7407	genome.wustl.edu	37	6	31760607	31760608	+	Frame_Shift_Ins	INS	-	-	CGGACACA			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr6:31760607_31760608insCGGACACA	ENST00000375663.3	-	4	1027_1028	c.587_588insTGTGTCCG	c.(586-588)cggfs	p.-196fs	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ATTCTGGCTGCCGGACACACGT	0.554																																																0			6																																								31868587	SO:0001589	frameshift_variant	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.580_587dupTGTGTCCG	6.37:g.31760608_31760615dupCGGACACA	ENSP00000364815:p.Arg196fs		31868586	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Ins	INS	ENST00000375663.3	37	CCDS34412.1																																																																																				0.554	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		CGGACACA	31760608	-	CGGACACA	31760607	7	5	164	1	0	1	1	0	0	0	0	0	17123	726	26	0	3314	0	VARS	6	31760607	Frame_Shift_Ins	INS	-	TCGA-20-1684-01A-01W-0633-09	5602203	31760607	139354460	11	9214											
SFRS18	25957	genome.wustl.edu	37	6	99852478	99852478	+	Splice_Site	SNP	C	C	T			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr6:99852478C>T	ENST00000369239.5	-	9	1307		c.e9+1		PNISR_ENST00000438806.1_Splice_Site	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CCAAAATATACCTTTCGTTGC	0.373																																																0			6											123	118	119					6																	99852478		2203	4300	6503	99959199	SO:0001630	splice_region_variant	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1102+1G>A	6.37:g.99852478C>T			99959199	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Splice_Site	SNP	ENST00000369239.5	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098077	0.76870	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1563	0.86792	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNISR	99959199	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.346000	0.79347	2.477000	0.83638	0.551000	0.68910	.		0.373	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870	Intron	T	99852478	C	T	99852478	5	4	164	1	0	0	0	0	0	0	1	0	14177	521	18	2	1330	2	SFRS18	6	99852478	Splice_Site	SNP	C	TCGA-20-1684-01A-01W-0633-09	68091871	99852478	71262589	12	9215											
RINT1	60561	genome.wustl.edu	37	7	105189127	105189127	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr7:105189127A>C	ENST00000257700.2	+	7	1197	c.966A>C	c.(964-966)agA>agC	p.R322S		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	322	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACTTCAGAGGGAACCGGC	0.453																																																0			7											168	161	163					7																	105189127		2203	4300	6503	104976363	SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.966A>C	7.37:g.105189127A>C	ENSP00000257700:p.Arg322Ser		104976363	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	9.812	1.183329	0.21870	.	.	ENSG00000135249	ENST00000257700	T	0.24350	1.86	5.93	1.94	0.25998	.	0.628414	0.18012	N	0.154523	T	0.05502	0.0145	N	0.00841	-1.15	0.38252	D	0.941625	B	0.09022	0.002	B	0.08055	0.003	T	0.28964	-1.0027	10	0.06099	T	0.92	-11.9972	4.2531	0.10703	0.667:0.0978:0.0769:0.1583	.	322	Q6NUQ1	RINT1_HUMAN	S	322	ENSP00000257700:R322S	ENSP00000257700:R322S	R	+	3	2	RINT1	104976363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.877000	0.28106	0.460000	0.27045	0.528000	0.53228	AGA		0.453	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		C	105189127	A	C	105189127	3	2	164	1	0	0	0	0	1	0	0	0	13379	301	11	5	992	5	RINT1	7	105189127	Missense_Mutation	SNP	A	TCGA-20-1684-01A-01W-0633-09		105189127	53949536	13	9216											
PTPRZ1	5803	genome.wustl.edu	37	7	121652841	121652841	+	Silent	SNP	G	G	A	rs145804208	byFrequency	TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr7:121652841G>A	ENST00000393386.2	+	12	4152	c.3741G>A	c.(3739-3741)tcG>tcA	p.S1247S	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1247					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGATGTGTCGCCTACTTCTC	0.368													G|||	2	0.000399361	0	0	5008	,	,		21852	0		0	False		,,,				2504	0.002															0			7						G	,,	4,4402	8.1+/-20.4	0,4,2199	139	139	139		,,3741	-11.4	0	7	dbSNP_134	139	0,8600		0,0,4300	no	intron,intron,coding-synonymous	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	,,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,,	,,1247/2316	121652841	4,13002	2203	4300	6503	121440077	SO:0001819	synonymous_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3741G>A	7.37:g.121652841G>A			121440077	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																				0.368	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121652841	G	A	121652841	2	1	164	1	0	0	0	0	0	0	0	1	12817	1074	38	1		1	PTPRZ1	7	121652841	Silent	SNP	G	TCGA-20-1684-01A-01W-0633-09	16463714	121652841	37485822	14	9217											
LAMC3	10319	genome.wustl.edu	37	9	133936540	133936540	+	Silent	SNP	C	C	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr9:133936540C>A	ENST00000361069.4	+	13	2410	c.2277C>A	c.(2275-2277)ggC>ggA	p.G759G	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	759	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTGCCCTGGCCAGTCGGCCT	0.662																																																0			9											50	45	47					9																	133936540		2203	4300	6503	132926361	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2277C>A	9.37:g.133936540C>A			132926361	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.662	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133936540	C	A	133936540	2	1	164	1	0	0	0	0	0	0	0	1	8616	726	26	3		3	LAMC3	9	133936540	Silent	SNP	C	TCGA-20-1684-01A-01W-0633-09		133936540	7276891	15	9218											
PCDH15	65217	genome.wustl.edu	37	10	55755492	55755492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr10:55755492G>A	ENST00000320301.6	-	21	3179	c.2785C>T	c.(2785-2787)Cga>Tga	p.R929*	PCDH15_ENST00000373955.1_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.R929*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.R929*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.R936*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.R858*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.R929*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.R934*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.R936*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.R892*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.R540*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.R907*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	929	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in dbSNP:rs2135720). {ECO:0000269|PubMed:11487575, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:22815625}.		equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTATATTCGTTTACTAAAG	0.408										HNSCC(58;0.16)																																						0			10	GRCh37	CM050735	PCDH15	M							123	110	114					10																	55755492		2203	4300	6503	55425498	SO:0001587	stop_gained	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2785C>T	10.37:g.55755492G>A	ENSP00000322604:p.Arg929*		55425498	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	39	7.843184	0.98519	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.93	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6611	0.45702	0.0:0.127:0.6103:0.2626	.	.	.	.	X	936;934;929;929;540;936;892;929;907;929;929;934;858;929	.	ENSP00000322604:R929X	R	-	1	2	PCDH15	55425498	0.008000	0.16893	0.987000	0.45799	0.137000	0.21094	1.293000	0.33353	1.500000	0.48636	-0.152000	0.13540	CGA		0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55755492	G	A	55755492	4	1	164	1	0	0	0	0	0	1	0	0	11511	1153	40	1	4753	1	PCDH15	10	55755492	Nonsense_Mutation	SNP	G	TCGA-20-1684-01A-01W-0633-09		55755492	79779255	16	9219											
DCHS1	8642	genome.wustl.edu	37	11	6646929	6646929	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr11:6646929C>A	ENST00000299441.3	-	18	7172	c.6761G>T	c.(6760-6762)aGc>aTc	p.S2254I		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2254	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGCTGGGCTCCCTCTGTC	0.597																																																0			11											42	42	42					11																	6646929		2201	4296	6497	6603505	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6761G>T	11.37:g.6646929C>A	ENSP00000299441:p.Ser2254Ile		6603505	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632091	0.46944	.	.	ENSG00000166341	ENST00000299441	T	0.54866	0.55	4.85	2.88	0.33553	Cadherin (4);Cadherin-like (1);	0.387690	0.22362	N	0.061080	T	0.46386	0.1390	L	0.39020	1.185	0.45250	D	0.998257	P	0.46784	0.884	P	0.49887	0.625	T	0.29458	-1.0011	10	0.32370	T	0.25	.	7.0346	0.24987	0.0:0.5806:0.3157:0.1037	.	2254	Q96JQ0	PCD16_HUMAN	I	2254	ENSP00000299441:S2254I	ENSP00000299441:S2254I	S	-	2	0	DCHS1	6603505	0.930000	0.31532	1.000000	0.80357	0.993000	0.82548	0.032000	0.13732	1.266000	0.44231	0.563000	0.77884	AGC		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6646929	C	A	6646929	3	1	164	1	0	0	0	0	1	0	0	0	4287	797	28	3	3151	3	DCHS1	11	6646929	Missense_Mutation	SNP	C	TCGA-20-1684-01A-01W-0633-09		6646929	128359587	17	9220											
FANCF	2188	genome.wustl.edu	37	11	22647041	22647041	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr11:22647041C>T	ENST00000327470.3	-	1	346	c.316G>A	c.(316-318)Gca>Aca	p.A106T	AC103801.2_ENST00000428556.2_5'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	106					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TAACGAGCTGCATCCCCGAGG	0.677			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	0			11											65	77	73					11																	22647041		2203	4300	6503	22603617	SO:0001583	missense	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.316G>A	11.37:g.22647041C>T	ENSP00000330875:p.Ala106Thr	757	22603617	Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001844	0.54254	.	.	ENSG00000183161	ENST00000327470	T	0.34275	1.37	5.43	3.47	0.39725	.	0.278794	0.23720	U	0.045238	T	0.49643	0.1569	L	0.50333	1.59	0.26885	N	0.967464	D	0.76494	0.999	D	0.75020	0.985	T	0.31696	-0.9934	10	0.40728	T	0.16	-8.9758	11.052	0.47896	0.1225:0.6805:0.197:0.0	.	106	Q9NPI8	FANCF_HUMAN	T	106	ENSP00000330875:A106T	ENSP00000330875:A106T	A	-	1	0	FANCF	22603617	0.744000	0.28250	0.309000	0.25155	0.037000	0.13140	1.871000	0.39539	1.510000	0.48803	-0.181000	0.13052	GCA		0.677	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		T	22647041	C	T	22647041	3	4	164	1	0	0	0	0	1	0	0	0	5667	710	25	2	812	2	FANCF	11	22647041	Missense_Mutation	SNP	C	TCGA-20-1684-01A-01W-0633-09	16000112	22647041	112359475	18	9221											
TMEM225	338661	genome.wustl.edu	37	11	123753867	123753867	+	Missense_Mutation	SNP	C	C	T	rs114749572	byFrequency	TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr11:123753867C>T	ENST00000375026.2	-	4	872	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	219					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTTACGTGACGTGTTTGGAC	0.418													C|||	13	0.00259585	0.0098	0	5008	,	,		19071	0		0	False		,,,				2504	0															0			11						C	HIS/ARG	32,4372	36.8+/-68.6	1,30,2171	178	164	168		656	0	0	11	dbSNP_132	168	0,8598		0,0,4299	no	missense	TMEM225	NM_001013743.1	29	1,30,6470	TT,TC,CC		0.0,0.7266,0.2461	benign	219/226	123753867	32,12970	2202	4299	6501	123259077	SO:0001583	missense	338661			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.656G>A	11.37:g.123753867C>T	ENSP00000364166:p.Arg219His		123259077		Missense_Mutation	SNP	ENST00000375026.2	37	CCDS31697.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	7.176	0.588549	0.13812	0.007266	0.0	ENSG00000204300	ENST00000375026	T	0.37584	1.19	3.89	-0.0361	0.13890	.	0.000000	0.45361	D	0.000362	T	0.13884	0.0336	N	0.20986	0.625	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.10730	-1.0617	10	0.52906	T	0.07	-4.2744	6.7241	0.23346	0.0:0.5946:0.0:0.4054	.	219	Q6GV28	TM225_HUMAN	H	219	ENSP00000364166:R219H	ENSP00000364166:R219H	R	-	2	0	TMEM225	123259077	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.764000	0.26532	0.004000	0.14682	-1.619000	0.00793	CGT		0.418	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		T	123753867	C	T	123753867	3	4	164	1	0	0	0	0	1	0	0	0	16147	536	19	1	25	1	TMEM225	11	123753867	Missense_Mutation	SNP	C	TCGA-20-1684-01A-01W-0633-09	101106826	123753867	11252649	19	9222											
ENO2	2026	genome.wustl.edu	37	12	7027206	7027206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr12:7027206C>T	ENST00000535366.1	+	6	1173	c.547C>T	c.(547-549)Cga>Tga	p.R183*	ENO2_ENST00000538763.1_Nonsense_Mutation_p.R140*|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000541477.1_Nonsense_Mutation_p.R183*|ENO2_ENST00000229277.1_Nonsense_Mutation_p.R183*|ENO2_ENST00000544774.1_Nonsense_Mutation_p.R140*			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	183					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGATGCCATGCGACTAGGTGC	0.542																																																0			12											104	95	98					12																	7027206		2203	4300	6503	6897467	SO:0001587	stop_gained	2026			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.547C>T	12.37:g.7027206C>T	ENSP00000437402:p.Arg183*		6897467	B7Z2X9|Q96J33	Nonsense_Mutation	SNP	ENST00000535366.1	37	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	c	36	5.853274	0.97030	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366	.	.	.	4.91	0.293	0.15742	.	0.059493	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2417	15.8482	0.78907	0.4677:0.5323:0.0:0.0	.	.	.	.	X	183;183;140;140;183	.	ENSP00000229277:R183X	R	+	1	2	ENO2	6897467	1.000000	0.71417	0.842000	0.33263	0.690000	0.40134	2.662000	0.46766	0.134000	0.18681	-2.095000	0.00367	CGA		0.542	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			T	7027206	C	T	7027206	4	4	164	1	0	0	0	0	0	1	0	0	5122	760	27	1	569	1	ENO2	12	7027206	Nonsense_Mutation	SNP	C	TCGA-20-1684-01A-01W-0633-09		7027206	126824689	20	9223											
OR4N5	390437	genome.wustl.edu	37	14	20612416	20612416	+	Silent	SNP	C	C	T	rs76001619	byFrequency	TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr14:20612416C>T	ENST00000333629.1	+	1	522	c.522C>T	c.(520-522)ctC>ctT	p.L174L	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L174L(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CAAACCAGCTCGATAACTTCT	0.507													C|||	15	0.00299521	8e-04	0	5008	,	,		20746	0.0129		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	lung(1)	14						C		2,4404	4.2+/-10.8	0,2,2201	122	113	116		522	-0.6	1	14	dbSNP_132	116	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	OR4N5	NM_001004724.1		0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615		174/309	20612416	8,12998	2203	4300	6503	19682256	SO:0001819	synonymous_variant	390437				CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.522C>T	14.37:g.20612416C>T			19682256	Q6IF11	Silent	SNP	ENST00000333629.1	37	CCDS32031.1																																																																																				0.507	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			T	20612416	C	T	20612416	2	4	164	1	0	0	0	0	0	0	0	1	11079	871	31	1		1	OR4N5	14	20612416	Silent	SNP	C	TCGA-20-1684-01A-01W-0633-09		20612416	86737124	21	9224											
CYFIP1	23191	genome.wustl.edu	37	15	22991215	22991215	+	Silent	SNP	C	C	G			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr15:22991215C>G	ENST00000313077.7	+	25	3029	c.2904C>G	c.(2902-2904)ggC>ggG	p.G968G	CYFIP1_ENST00000435939.2_Silent_p.G537G|CYFIP1_ENST00000560848.1_Silent_p.G968G	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACGAGTACGGCTCTCCTGGTG	0.557																																																0			15											48	37	41					15																	22991215		2203	4300	6503	20542656	SO:0001819	synonymous_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2904C>G	15.37:g.22991215C>G			20542656		Silent	SNP	ENST00000313077.7	37	CCDS10009.1																																																																																				0.557	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		G	22991215	C	G	22991215	2	3	164	1	0	0	0	0	0	0	0	1	4137	784	28	3		3	CYFIP1	15	22991215	Silent	SNP	C	TCGA-20-1684-01A-01W-0633-09		22991215	79540177	22	9225											
RPAP1	26015	genome.wustl.edu	37	15	41816446	41816446	+	Silent	SNP	G	G	C	rs377353071		TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr15:41816446G>C	ENST00000304330.4	-	16	2198	c.2082C>G	c.(2080-2082)ctC>ctG	p.L694L	RPAP1_ENST00000561603.1_Silent_p.L694L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	694						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCACTGGGTAGAGCTCCCTAG	0.577																																																0			15											49	45	46					15																	41816446		2203	4300	6503	39603738	SO:0001819	synonymous_variant	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2082C>G	15.37:g.41816446G>C			39603738	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	CCDS10079.1																																																																																				0.577	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		C	41816446	G	C	41816446	2	2	164	1	0	0	0	0	0	0	0	1	13544	929	33	3		3	RPAP1	15	41816446	Silent	SNP	G	TCGA-20-1684-01A-01W-0633-09	18825231	41816446	60714946	23	9226											
CATSPER2	117155	genome.wustl.edu	37	15	43924549	43924549	+	Nonsense_Mutation	SNP	C	C	T			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr15:43924549C>T	ENST00000321596.5	-	12	1608	c.1409G>A	c.(1408-1410)tGg>tAg	p.W470*	CATSPER2_ENST00000381761.1_Nonsense_Mutation_p.W474*|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_Nonsense_Mutation_p.W468*|CATSPER2_ENST00000355438.2_Silent_p.L397L|CATSPER2_ENST00000354127.4_Nonsense_Mutation_p.W468*			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	470					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAGAGTCTCCCAGTCCAAACG	0.478																																																0			15											54	54	54					15																	43924549		2199	4297	6496	41711841	SO:0001587	stop_gained	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1409G>A	15.37:g.43924549C>T	ENSP00000321463:p.Trp470*		41711841	Q8NHT9|Q96P54|Q96P55	Nonsense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332331	0.81801	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127	.	.	.	4.19	4.19	0.49359	.	0.735641	0.09937	U	0.736493	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2601	0.54645	0.0:1.0:0.0:0.0	.	.	.	.	X	468;470;474;470;468	.	ENSP00000299989:W470X	W	-	2	0	CATSPER2	41711841	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.345000	0.59360	2.328000	0.79073	0.644000	0.83932	TGG		0.478	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		T	43924549	C	T	43924549	4	4	164	1	0	0	0	0	0	1	0	0	2688	595	21	2	191	2	CATSPER2	15	43924549	Nonsense_Mutation	SNP	C	TCGA-20-1684-01A-01W-0633-09	2108103	43924549	58606843	24	9227											
C16orf5	29965	genome.wustl.edu	37	16	4563854	4563854	+	Splice_Site	SNP	T	T	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr16:4563854T>A	ENST00000399599.3	-	3	634		c.e3-2		CDIP1_ENST00000567695.1_Splice_Site|CDIP1_ENST00000562334.1_Splice_Site|CDIP1_ENST00000564828.1_Splice_Site|CDIP1_ENST00000563507.1_Splice_Site|CDIP1_ENST00000563332.2_Splice_Site			Q9H305	CDIP1_HUMAN	cell death-inducing p53 target 1						apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	nucleus (GO:0005634)											AGGAACGGCCTGGACAGAGAG	0.642																																																0			16											19	23	21					16																	4563854		2035	4179	6214	4503855	SO:0001630	splice_region_variant	29965			AF131218	CCDS42114.1, CCDS58419.1, CCDS58420.1	16p13.3	2012-11-14	2012-11-14	2012-11-14	ENSG00000089486	ENSG00000089486			13234	protein-coding gene	gene with protein product	"cell death involved p53-target", "lipopolysaccharide-induced TNF factor-like"	610503	"chromosome 16 open reading frame 5"	C16orf5		10570909, 17599062	Standard	NM_013399		Approved	CDIP, LITAFL	uc002cww.3	Q9H305	OTTHUMG00000177172	ENST00000399599.3:c.86-2A>T	16.37:g.4563854T>A			4503855	A8K7M1|B4DFU1|B4DY75|D3DUD6|Q96ID8|Q9H0Q4|Q9P112	Splice_Site	SNP	ENST00000399599.3	37	CCDS42114.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247498	0.59103	.	.	ENSG00000089486	ENST00000399599	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2345	0.31618	0.0:0.0893:0.0:0.9107	.	.	.	.	.	-1	.	.	.	-	.	.	C16orf5	4503855	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	1.488000	0.35551	2.077000	0.62373	0.533000	0.62120	.		0.642	CDIP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435718.2	NM_013399	Intron	A	4563854	T	A	4563854	5	1	164	1	0	0	0	0	0	0	1	0	1817	1594	55	5	554	5	C16orf5	16	4563854	Splice_Site	SNP	T	TCGA-20-1684-01A-01W-0633-09		4563854	85790899	25	9228											
CDH11	1009	genome.wustl.edu	37	16	65016067	65016067	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr16:65016067C>A	ENST00000268603.4	-	8	1752	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	CDH11_ENST00000394156.3_Missense_Mutation_p.E379D|CDH11_ENST00000566827.1_Missense_Mutation_p.E253D	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	379	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACATAGGGGGCTCATCAGCAT	0.527			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0			16											166	138	147					16																	65016067		2203	4300	6503	63573568	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1137G>T	16.37:g.65016067C>A	ENSP00000268603:p.Glu379Asp		63573568	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886397	0.72410	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.68181	-0.31;-0.31	5.76	2.76	0.32466	Cadherin (3);Cadherin-like (1);	0.044982	0.85682	D	0.000000	T	0.78349	0.4269	M	0.74546	2.27	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.72982	0.962;0.979	T	0.79434	-0.1805	10	0.87932	D	0	.	10.2969	0.43629	0.0:0.7868:0.0:0.2132	.	379;379	P55287-2;P55287	.;CAD11_HUMAN	D	379;379;362	ENSP00000268603:E379D;ENSP00000377711:E379D	ENSP00000268603:E379D	E	-	3	2	CDH11	63573568	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	0.889000	0.28282	0.909000	0.36697	-0.150000	0.13652	GAG		0.527	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		A	65016067	C	A	65016067	3	1	164	1	0	0	0	0	1	0	0	0	3097	796	28	3	1277	3	CDH11	16	65016067	Missense_Mutation	SNP	C	TCGA-20-1684-01A-01W-0633-09	60452213	65016067	25338686	26	9229											
CLEC3A	10143	genome.wustl.edu	37	16	78062005	78062005	+	Splice_Site	SNP	C	C	A	rs199500922		TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr16:78062005C>A	ENST00000575655.1	+	2	198	c.117C>A	c.(115-117)gaC>gaA	p.D39E	CLEC3A_ENST00000299642.4_Splice_Site_p.D48E|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	39					skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TTTCCCCAGACAAGGATGGAG	0.433																																																0			16						C	GLU/ASP	0,4396		0,0,2198	87	85	85		117	-3.2	1	16		85	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	CLEC3A	NM_005752.4	45	0,1,6497	AA,AC,CC		0.0116,0.0,0.0077	benign	39/198	78062005	1,12995	2198	4300	6498	76619506	SO:0001630	splice_region_variant	10143			AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.116-1C>A	16.37:g.78062005C>A			76619506	B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37		.	.	.	.	.	.	.	.	.	.	C	0.078	-1.188127	0.01607	0.0	1.16E-4	ENSG00000166509	ENST00000299642	.	.	.	5.19	-3.17	0.05202	.	0.298940	0.34603	N	0.003822	T	0.08088	0.0202	N	0.01352	-0.895	0.29030	N	0.885766	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.02654	T	1	.	7.0449	0.25040	0.4374:0.1358:0.4268:0.0	.	39	O75596	CLC3A_HUMAN	E	39	.	ENSP00000299642:D39E	D	+	3	2	CLEC3A	76619506	0.998000	0.40836	0.972000	0.41901	0.283000	0.27025	0.422000	0.21296	-0.533000	0.06323	-0.410000	0.06199	GAC		0.433	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752	Missense_Mutation	A	78062005	C	A	78062005	5	1	164	1	0	0	0	0	0	0	1	0	3510	492	17	3	123	3	CLEC3A	16	78062005	Splice_Site	SNP	C	TCGA-20-1684-01A-01W-0633-09	13045938	78062005	12292748	27	9230											
CDK12	51755	genome.wustl.edu	37	17	37650879	37650880	+	Frame_Shift_Ins	INS	-	-	A	rs191899574		TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr17:37650879_37650880insA	ENST00000447079.4	+	5	2384_2385	c.2351_2352insA	c.(2350-2355)cgaagtfs	p.S785fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.S785fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	785	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTAatccaccgaagtgttgtta	0.406			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17																																								34904406	SO:0001589	frameshift_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2353dupA	17.37:g.37650881_37650881dupA	ENSP00000398880:p.Ser785fs		34904405	A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	CCDS11337.1																																																																																				0.406	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		A	37650880	-	A	37650879	7	5	164	1	0	1	1	0	0	0	0	0	3128	1058	37	0	2369	0	CDK12	17	37650879	Frame_Shift_Ins	INS	-	TCGA-20-1684-01A-01W-0633-09		37650879	43544331	28	9231											
CACNG4	27092	genome.wustl.edu	37	17	65026913	65026913	+	Silent	SNP	G	G	A	rs375384748		TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr17:65026913G>A	ENST00000262138.3	+	4	779	c.777G>A	c.(775-777)tcG>tcA	p.S259S	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	259					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGGACGTGTCGCCCATGGGCC	0.652																																																0			17						G		2,4404	4.2+/-10.8	0,2,2201	47	46	46		777	-10.3	0.1	17		46	0,8600		0,0,4300	no	coding-synonymous	CACNG4	NM_014405.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		259/328	65026913	2,13004	2203	4300	6503	62457375	SO:0001819	synonymous_variant	27092			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.777G>A	17.37:g.65026913G>A			62457375	B2RCK0	Silent	SNP	ENST00000262138.3	37	CCDS11667.1																																																																																				0.652	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		A	65026913	G	A	65026913	2	1	164	1	0	0	0	0	0	0	0	1	2559	1074	38	1		1	CACNG4	17	65026913	Silent	SNP	G	TCGA-20-1684-01A-01W-0633-09	27376034	65026913	16168297	29	9232											
LDLR	3949	genome.wustl.edu	37	19	11231184	11231184	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr19:11231184G>C	ENST00000558518.1	+	14	2313	c.2126G>C	c.(2125-2127)aGg>aCg	p.R709T	LDLR_ENST00000455727.2_Missense_Mutation_p.R541T|LDLR_ENST00000558013.1_Missense_Mutation_p.R709T|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.R668T|LDLR_ENST00000557933.1_Missense_Mutation_p.R709T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	709	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGGGACATGAGGAGCTGCCTC	0.627																																					GBM(18;201 575 7820 21545)											1	Unknown(1)	lung(1)	19											44	42	43					19																	11231184		2203	4300	6503	11092184	SO:0001583	missense	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2126G>C	19.37:g.11231184G>C	ENSP00000454071:p.Arg709Thr		11092184	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966791	0.74131	.	.	ENSG00000130164	ENST00000252444;ENST00000535915;ENST00000455727	D;D	0.97328	-4.34;-4.34	5.3	3.18	0.36537	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.56097	D	0.000039	D	0.97990	0.9338	M	0.82132	2.575	0.54753	D	0.999985	D;D;P;D;D	0.89917	0.999;0.999;0.832;1.0;0.999	D;D;P;D;D	0.83275	0.993;0.994;0.672;0.996;0.985	D	0.97409	1.0001	10	0.54805	T	0.06	.	10.4662	0.44609	0.1598:0.0:0.8402:0.0	.	541;588;668;721;709	B4DR00;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;LDLR_HUMAN	T	709;668;541	ENSP00000440520:R668T;ENSP00000397829:R541T	ENSP00000252444:R709T	R	+	2	0	LDLR	11092184	1.000000	0.71417	0.992000	0.48379	0.700000	0.40528	4.334000	0.59291	0.635000	0.30488	0.655000	0.94253	AGG		0.627	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			C	11231184	G	C	11231184	3	2	164	1	0	0	0	0	1	0	0	0	8704	1000	35	3	2180	3	LDLR	19	11231184	Missense_Mutation	SNP	G	TCGA-20-1684-01A-01W-0633-09		11231184	47897799	30	9233											
ZNF565	147929	genome.wustl.edu	37	19	36685968	36685968	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr19:36685968C>A	ENST00000355114.5	-	3	946	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L	ZNF565_ENST00000304116.5_Missense_Mutation_p.V34L|ZNF565_ENST00000392173.2_Missense_Mutation_p.V34L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCCAGAGTCACCTCCCTGTAC	0.522																																																0			19											162	129	140					19																	36685968		2203	4300	6503	41377808	SO:0001583	missense	147929			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.220G>T	19.37:g.36685968C>A	ENSP00000347234:p.Val74Leu		41377808	B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37		.	.	.	.	.	.	.	.	.	.	c	22.1	4.245256	0.80024	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.03801	3.8;3.8;3.8	4.33	4.33	0.51752	Krueppel-associated box (4);	0.000000	0.31123	N	0.008215	T	0.26268	0.0641	M	0.90870	3.155	0.25269	N	0.989532	D;B	0.76494	0.999;0.098	D;B	0.85130	0.997;0.08	T	0.10660	-1.0620	10	0.72032	D	0.01	.	12.1757	0.54184	0.0:1.0:0.0:0.0	.	74;34	B3KQ35;Q8N9K5	.;ZN565_HUMAN	L	34;34;74	ENSP00000376013:V34L;ENSP00000306869:V34L;ENSP00000347234:V74L	ENSP00000306869:V34L	V	-	1	0	ZNF565	41377808	0.915000	0.31059	0.975000	0.42487	0.931000	0.56810	1.638000	0.37165	2.223000	0.72356	0.561000	0.74099	GTG		0.522	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		A	36685968	C	A	36685968	3	1	164	1	0	0	0	0	1	0	0	0	17996	507	18	3	1411	3	ZNF565	19	36685968	Missense_Mutation	SNP	C	TCGA-20-1684-01A-01W-0633-09	25454784	36685968	22443015	31	9234											
NLRP12	91662	genome.wustl.edu	37	19	54312882	54312882	+	Silent	SNP	G	G	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr19:54312882G>A	ENST00000324134.6	-	3	2199	c.2031C>T	c.(2029-2031)cgC>cgT	p.R677R	NLRP12_ENST00000351894.4_Silent_p.R677R|NLRP12_ENST00000391773.1_Silent_p.R677R|NLRP12_ENST00000391775.3_Silent_p.R677R|NLRP12_ENST00000535162.1_Silent_p.R677R|NLRP12_ENST00000345770.5_Silent_p.R677R|NLRP12_ENST00000391772.1_Silent_p.R677R|NLRP12_ENST00000354278.3_Silent_p.R677R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	677					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCACCTCGCGCGGTCTTCCC	0.587																																																0			19											30	28	29					19																	54312882		2203	4299	6502	59004694	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2031C>T	19.37:g.54312882G>A			59004694	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				0.587	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54312882	G	A	54312882	2	1	164	1	0	0	0	0	0	0	0	1	10474	1074	38	1		1	NLRP12	19	54312882	Silent	SNP	G	TCGA-20-1684-01A-01W-0633-09	17626914	54312882	4816101	32	9235											
SLC32A1	140679	genome.wustl.edu	37	20	37353588	37353588	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr20:37353588G>A	ENST00000217420.1	+	1	484	c.221G>A	c.(220-222)gGc>gAc	p.G74D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	74					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GGGGACGAGGGCGCTGAAGCG	0.672																																																0			20											20	26	24					20																	37353588		2195	4286	6481	36787002	SO:0001583	missense	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.221G>A	20.37:g.37353588G>A	ENSP00000217420:p.Gly74Asp		36787002	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336327	0.24253	.	.	ENSG00000101438	ENST00000217420	T	0.08546	3.08	4.97	4.02	0.46733	.	0.054503	0.64402	D	0.000001	T	0.04407	0.0121	N	0.08118	0	0.47374	D	0.999403	B	0.02656	0.0	B	0.01281	0.0	T	0.43212	-0.9405	10	0.20046	T	0.44	-21.0723	11.1521	0.48464	0.0919:0.0:0.9081:0.0	.	74	Q9H598	VIAAT_HUMAN	D	74	ENSP00000217420:G74D	ENSP00000217420:G74D	G	+	2	0	SLC32A1	36787002	1.000000	0.71417	0.979000	0.43373	0.095000	0.18619	5.878000	0.69682	1.087000	0.41251	-0.258000	0.10820	GGC		0.672	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		A	37353588	G	A	37353588	3	1	164	1	0	0	0	0	1	0	0	0	14568	1203	42	2	223	2	SLC32A1	20	37353588	Missense_Mutation	SNP	G	TCGA-20-1684-01A-01W-0633-09		37353588	25671932	33	9236											
MX2	4600	genome.wustl.edu	37	21	42767536	42767536	+	Silent	SNP	A	A	T			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chr21:42767536A>T	ENST00000330714.3	+	7	1078	c.894A>T	c.(892-894)ctA>ctT	p.L298L	MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	298	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACCAGATCTAATGGACAGGG	0.517																																																0			21											111	91	98					21																	42767536		2203	4300	6503	41689406	SO:0001819	synonymous_variant	4600				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.894A>T	21.37:g.42767536A>T			41689406	B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	CCDS13672.1																																																																																				0.517	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		T	42767536	A	T	42767536	2	4	164	1	0	0	0	0	0	0	0	1	9998	349	13	5		5	MX2	21	42767536	Silent	SNP	A	TCGA-20-1684-01A-01W-0633-09		42767536	5362359	34	9237											
CDX4	1046	genome.wustl.edu	37	X	72667227	72667227	+	Silent	SNP	G	G	A			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chrX:72667227G>A	ENST00000373514.2	+	1	138	c.138G>A	c.(136-138)gcG>gcA	p.A46A		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	46					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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 positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ATTTCGCTGCGGCACCGGCTT	0.652																																																0			X											42	38	39					X																	72667227		2203	4300	6503	72583952	SO:0001819	synonymous_variant	1046			AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.138G>A	X.37:g.72667227G>A			72583952	A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	CCDS14424.1																																																																																				0.652	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		A	72667227	G	A	72667227	2	1	164	1	0	0	0	0	0	0	0	1	3184	1103	39	1		1	CDX4	23	72667227	Silent	SNP	G	TCGA-20-1684-01A-01W-0633-09		72667227	82603333	35	9238											
GPR112	139378	genome.wustl.edu	37	X	135429258	135429258	+	Silent	SNP	C	C	T			TCGA-20-1684-01A-01W-0633-09	TCGA-20-1684-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41fbfa93-8a31-461e-800a-23142842d0df	37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0	g.chrX:135429258C>T	ENST00000394143.1	+	6	3684	c.3393C>T	c.(3391-3393)acC>acT	p.T1131T	GPR112_ENST00000412101.1_Silent_p.T926T|GPR112_ENST00000370652.1_Silent_p.T1131T|GPR112_ENST00000394141.1_Silent_p.T926T|GPR112_ENST00000287534.4_Silent_p.T1068T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1131					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTCTACCTCAGTTGATA	0.483																																																0			X											152	119	130					X																	135429258		2203	4300	6503	135256924	SO:0001819	synonymous_variant	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3393C>T	X.37:g.135429258C>T			135256924	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.483	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			T	135429258	C	T	135429258	2	4	164	1	0	0	0	0	0	0	0	1	6629	668	24	2		2	GPR112	23	135429258	Silent	SNP	C	TCGA-20-1684-01A-01W-0633-09	62762031	135429258	19841302	36	9239											
PRKACB	5567	genome.wustl.edu	37	1	84668419	84668419	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:84668419G>C	ENST00000370689.2	+	8	960	c.696G>C	c.(694-696)atG>atC	p.M232I	PRKACB_ENST00000394839.2_Missense_Mutation_p.M202I|PRKACB_ENST00000394838.2_Missense_Mutation_p.M239I|PRKACB_ENST00000370682.3_Missense_Mutation_p.M236I|PRKACB_ENST00000370688.3_Missense_Mutation_p.M232I|PRKACB_ENST00000370685.3_Missense_Mutation_p.M279I|PRKACB_ENST00000370680.1_Missense_Mutation_p.M238I	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TCTATGAAATGGCAGCTGGCT	0.373																																																0			1											154	149	150					1																	84668419		2203	4300	6503	84441007	SO:0001583	missense	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.696G>C	1.37:g.84668419G>C	ENSP00000359723:p.Met232Ile		84441007	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209892	0.95069	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000370684;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000370680;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.033218	0.85682	D	0.000000	T	0.22666	0.0547	M	0.69463	2.115	0.80722	D	1	B;D;D;D;D;D;D;D;D;B;P	0.69078	0.343;0.995;0.996;0.984;0.997;0.995;0.966;0.997;0.988;0.343;0.843	P;D;D;D;D;D;D;D;D;P;D	0.78314	0.794;0.957;0.975;0.974;0.991;0.957;0.957;0.976;0.986;0.794;0.936	T	0.00565	-1.1668	10	0.87932	D	0	-20.3169	19.8568	0.96762	0.0:0.0:1.0:0.0	.	232;220;239;238;202;238;236;279;279;232;232	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	I	232;232;279;220;239;236;238;238;202;194	ENSP00000359723:M232I;ENSP00000359722:M232I;ENSP00000359719:M279I;ENSP00000359718:M220I;ENSP00000378314:M239I;ENSP00000359716:M236I;ENSP00000359714:M238I;ENSP00000378315:M202I	ENSP00000359713:M238I	M	+	3	0	PRKACB	84441007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.764000	0.94973	0.650000	0.86243	ATG		0.373	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		C	84668419	G	C	84668419	3	2	165	1	0	0	0	0	1	0	0	0	12501	1348	47	3	917	3	PRKACB	1	84668419	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09		84668419	164582202	1	9240											
SARS	6301	genome.wustl.edu	37	1	109771018	109771018	+	Silent	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:109771018G>A	ENST00000234677.2	+	3	327	c.252G>A	c.(250-252)gtG>gtA	p.V84V	SARS_ENST00000369923.4_Silent_p.V84V	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	84					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CAGAGAATGTGCTGAGTTTCG	0.373																																																0			1											186	167	173					1																	109771018		2203	4300	6503	109572541	SO:0001819	synonymous_variant	6301			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.252G>A	1.37:g.109771018G>A			109572541	B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	ENST00000234677.2	37	CCDS795.1																																																																																				0.373	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		A	109771018	G	A	109771018	2	1	165	1	0	0	0	0	0	0	0	1	13847	1306	46	2		2	SARS	1	109771018	Silent	SNP	G	TCGA-20-1685-01A-01W-0633-09	25102599	109771018	139479603	2	9241											
CELSR2	1952	genome.wustl.edu	37	1	109795086	109795086	+	Silent	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:109795086G>A	ENST00000271332.3	+	1	2446	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	795	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTCCCCAGAAGTCCGACACCA	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)											0			1											107	88	94					1																	109795086		2203	4300	6503	109596609	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2385G>A	1.37:g.109795086G>A			109596609	Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																				0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109795086	G	A	109795086	2	1	165	1	0	0	0	0	0	0	0	1	3222	1020	36	2		2	CELSR2	1	109795086	Silent	SNP	G	TCGA-20-1685-01A-01W-0633-09	24068	109795086	139455535	3	9242											
TTF2	8458	genome.wustl.edu	37	1	117629064	117629064	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:117629064A>T	ENST00000369466.4	+	12	2124	c.2080A>T	c.(2080-2082)Act>Tct	p.T694S		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	694	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CATCGTGATCACTACCTATAG	0.488																																																0			1											111	98	102					1																	117629064		2203	4300	6503	117430587	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2080A>T	1.37:g.117629064A>T	ENSP00000358478:p.Thr694Ser		117430587	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690773	0.88735	.	.	ENSG00000116830	ENST00000369466	D	0.95588	-3.75	5.25	5.25	0.73442	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.36409	N	0.002603	D	0.97043	0.9034	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97852	1.0275	10	0.87932	D	0	-16.9256	13.4065	0.60915	1.0:0.0:0.0:0.0	.	694	Q9UNY4	TTF2_HUMAN	S	694	ENSP00000358478:T694S	ENSP00000358478:T694S	T	+	1	0	TTF2	117430587	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.806000	0.86020	2.109000	0.64355	0.455000	0.32223	ACT		0.488	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			T	117629064	A	T	117629064	3	4	165	1	0	0	0	0	1	0	0	0	16719	159	6	5	2126	5	TTF2	1	117629064	Missense_Mutation	SNP	A	TCGA-20-1685-01A-01W-0633-09	7833978	117629064	131621557	4	9243											
PGLYRP4	57115	genome.wustl.edu	37	1	153303306	153303306	+	Silent	SNP	T	T	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:153303306T>C	ENST00000359650.5	-	9	1123	c.1059A>G	c.(1057-1059)cgA>cgG	p.R353R	PGLYRP4_ENST00000368739.3_Silent_p.R349R|RNU6-160P_ENST00000384591.1_RNA	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	353	Interaction with murein.				defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGACAAGGTTCGGGCCACAT	0.562																																																0			1											117	110	113					1																	153303306		2203	4300	6503	151569930	SO:0001819	synonymous_variant	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.1059A>G	1.37:g.153303306T>C			151569930	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent	SNP	ENST00000359650.5	37	CCDS30871.1																																																																																				0.562	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		C	153303306	T	C	153303306	2	2	165	1	0	0	0	0	0	0	0	1	11796	1770	62	4		4	PGLYRP4	1	153303306	Silent	SNP	T	TCGA-20-1685-01A-01W-0633-09	35674242	153303306	95947315	5	9244											
RGS21	431704	genome.wustl.edu	37	1	192335109	192335109	+	Missense_Mutation	SNP	T	T	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:192335109T>G	ENST00000417209.2	+	5	488	c.314T>G	c.(313-315)cTc>cGc	p.L105R		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	105	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GAACCAACACTCAAATGCTTT	0.348																																																0			1											94	94	94					1																	192335109		1835	4085	5920	190601732	SO:0001583	missense	431704			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"Regulators of G-protein signaling"	26839	protein-coding gene	gene with protein product		612407	"regulator of G-protein signalling 21"			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.314T>G	1.37:g.192335109T>G	ENSP00000428343:p.Leu105Arg		190601732		Missense_Mutation	SNP	ENST00000417209.2	37	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	T	6.229	0.410309	0.11812	.	.	ENSG00000253148	ENST00000417209	T	0.01665	4.7	5.51	3.19	0.36642	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.31113	U	0.008240	T	0.00936	0.0031	N	0.04655	-0.195	0.26465	N	0.975387	B	0.06786	0.001	B	0.08055	0.003	T	0.48352	-0.9043	10	0.07990	T	0.79	.	8.6732	0.34163	0.0:0.1492:0.0:0.8508	.	105	Q2M5E4	RGS21_HUMAN	R	105	ENSP00000428343:L105R	ENSP00000428343:L105R	L	+	2	0	RGS21	190601732	0.007000	0.16637	0.798000	0.32154	0.807000	0.45602	1.070000	0.30653	0.390000	0.25115	0.402000	0.26972	CTC		0.348	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			G	192335109	T	G	192335109	3	3	165	1	0	0	0	0	1	0	0	0	13307	1551	54	5	328	5	RGS21	1	192335109	Missense_Mutation	SNP	T	TCGA-20-1685-01A-01W-0633-09	39031803	192335109	56915512	6	9245											
CFHR5	81494	genome.wustl.edu	37	1	196973821	196973821	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:196973821C>A	ENST00000256785.4	+	9	1470	c.1361C>A	c.(1360-1362)tCt>tAt	p.S454Y	CFHR5_ENST00000367414.5_Missense_Mutation_p.S478Y			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	454	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCCCCTCCATCTATTAACAAT	0.398																																																0			1											132	130	131					1																	196973821		2203	4300	6503	195240444	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1361C>A	1.37:g.196973821C>A	ENSP00000256785:p.Ser454Tyr		195240444	Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966674	0.34659	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.66280	-0.2;-0.2	3.69	2.76	0.32466	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52484	0.1737	L	0.47716	1.5	0.09310	N	1	B	0.19706	0.038	B	0.29524	0.103	T	0.41840	-0.9486	9	0.19147	T	0.46	.	7.4232	0.27083	0.0:0.8702:0.0:0.1298	.	454	Q9BXR6	FHR5_HUMAN	Y	478;454	ENSP00000356384:S478Y;ENSP00000256785:S454Y	ENSP00000256785:S454Y	S	+	2	0	CFHR5	195240444	0.001000	0.12720	0.008000	0.14137	0.421000	0.31385	0.063000	0.14410	0.644000	0.30656	0.491000	0.48974	TCT		0.398	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		A	196973821	C	A	196973821	3	1	165	1	0	0	0	0	1	0	0	0	3288	913	32	3	1395	3	CFHR5	1	196973821	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09	4638712	196973821	52276800	7	9246											
ETNK2	55224	genome.wustl.edu	37	1	204106375	204106375	+	Missense_Mutation	SNP	C	C	T	rs533254441	byFrequency	TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:204106375C>T	ENST00000367202.4	-	6	1021	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	ETNK2_ENST00000367199.2_Missense_Mutation_p.V222M|ETNK2_ENST00000477125.1_5'Flank|ETNK2_ENST00000367197.1_De_novo_Start_InFrame|ETNK2_ENST00000367201.3_Missense_Mutation_p.V291M|ETNK2_ENST00000367198.2_Missense_Mutation_p.V113M	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	291					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTCATTCACGCCTGAGGGG	0.607													C|||	2	0.000399361	8e-04	0	5008	,	,		18598	0		0	False		,,,				2504	0.001															0			1											41	39	40					1																	204106375		2203	4300	6503	202372998	SO:0001583	missense	55224			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.871G>A	1.37:g.204106375C>T	ENSP00000356170:p.Val291Met		202372998	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352666	0.41700	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.46	5.46	0.80206	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.051867	0.85682	D	0.000000	T	0.51278	0.1665	L	0.45698	1.435	0.39177	D	0.962711	P;P;D	0.60575	0.794;0.828;0.988	B;B;P	0.48063	0.176;0.269;0.565	T	0.52403	-0.8580	10	0.34782	T	0.22	-4.5192	12.9904	0.58616	0.1612:0.8388:0.0:0.0	.	250;291;291	Q9NVF9-3;Q9NVF9;Q9NVF9-2	.;EKI2_HUMAN;.	M	291;291;222;157;113;157;148;137	ENSP00000356169:V291M;ENSP00000356170:V291M;ENSP00000356167:V222M;ENSP00000356166:V113M;ENSP00000405497:V157M;ENSP00000398091:V148M;ENSP00000406241:V137M	ENSP00000356166:V113M	V	-	1	0	ETNK2	202372998	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.870000	0.56070	2.557000	0.86248	0.467000	0.42956	GTG		0.607	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		T	204106375	C	T	204106375	3	4	165	1	0	0	0	0	1	0	0	0	5274	536	19	1	301	1	ETNK2	1	204106375	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09	7132554	204106375	45144246	8	9247											
ACTN2	88	genome.wustl.edu	37	1	236910986	236910986	+	Missense_Mutation	SNP	G	G	T	rs142943120	byFrequency	TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:236910986G>T	ENST00000366578.4	+	13	1592	c.1426G>T	c.(1426-1428)Gct>Tct	p.A476S	ACTN2_ENST00000542672.1_Missense_Mutation_p.A476S|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	476					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTATCACGACGCTGTGAATGT	0.398																																																0			1											45	47	46					1																	236910986		2203	4300	6503	234977609	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1426G>T	1.37:g.236910986G>T	ENSP00000355537:p.Ala476Ser		234977609	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142012	0.37825	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.48522	0.81;0.81	5.73	5.73	0.89815	.	0.147340	0.64402	D	0.000009	T	0.51635	0.1686	N	0.11756	0.17	0.80722	D	1	P;B;B;B	0.37207	0.587;0.016;0.156;0.393	P;B;P;P	0.61328	0.887;0.151;0.599;0.719	T	0.30416	-0.9979	10	0.07990	T	0.79	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	261;476;246;476	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	S	476;476;245	ENSP00000443495:A476S;ENSP00000355537:A476S	ENSP00000355537:A476S	A	+	1	0	ACTN2	234977609	1.000000	0.71417	0.970000	0.41538	0.676000	0.39594	5.635000	0.67841	2.854000	0.98071	0.655000	0.94253	GCT		0.398	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		T	236910986	G	T	236910986	3	4	165	1	0	0	0	0	1	0	0	0	205	1087	38	3	1476	3	ACTN2	1	236910986	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	32804611	236910986	12339635	9	9248											
RAD51AP2	729475	genome.wustl.edu	37	2	17692186	17692186	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr2:17692186G>A	ENST00000399080.2	-	3	3388	c.3365C>T	c.(3364-3366)cCg>cTg	p.P1122L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1122	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTCTTAAGCGGTCGTACTCT	0.328																																																0			2											114	101	105					2																	17692186		1834	4085	5919	17555667	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3365C>T	2.37:g.17692186G>A	ENSP00000382030:p.Pro1122Leu		17555667		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412401	0.83340	.	.	ENSG00000214842	ENST00000399080	T	0.56275	0.47	5.62	5.62	0.85841	.	.	.	.	.	T	0.64136	0.2571	L	0.32530	0.975	0.50813	D	0.999899	D	0.89917	1.0	D	0.97110	1.0	T	0.66508	-0.5906	9	0.87932	D	0	-4.7462	16.8134	0.85727	0.0:0.0:1.0:0.0	.	1122	Q09MP3	R51A2_HUMAN	L	1122	ENSP00000382030:P1122L	ENSP00000382030:P1122L	P	-	2	0	RAD51AP2	17555667	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.441000	0.73439	2.637000	0.89404	0.491000	0.48974	CCG		0.328	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		A	17692186	G	A	17692186	3	1	165	1	0	0	0	0	1	0	0	0	12990	1116	39	1	118	1	RAD51AP2	2	17692186	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09		17692186	225507187	10	9249											
C2orf29	55571	genome.wustl.edu	37	2	101879065	101879065	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr2:101879065C>G	ENST00000289382.3	+	3	907	c.744C>G	c.(742-744)gaC>gaG	p.D248E		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	248					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GTGACCCAGACCCGGATTCTT	0.438																																																0			2											84	84	84					2																	101879065		2203	4300	6503	101245497	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.744C>G	2.37:g.101879065C>G	ENSP00000289382:p.Asp248Glu		101245497	Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726995	0.48833	.	.	ENSG00000158435	ENST00000289382	T	0.37752	1.18	5.8	3.68	0.42216	.	0.045796	0.85682	D	0.000000	T	0.52613	0.1745	L	0.59436	1.845	0.58432	D	0.999994	D	0.64830	0.994	D	0.72625	0.978	T	0.48758	-0.9007	10	0.27785	T	0.31	-35.8563	13.7671	0.63002	0.0:0.8565:0.0:0.1435	.	248	Q9UKZ1	CB029_HUMAN	E	248	ENSP00000289382:D248E	ENSP00000289382:D248E	D	+	3	2	C2orf29	101245497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.642000	0.37207	1.461000	0.47929	0.655000	0.94253	GAC		0.438	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		G	101879065	C	G	101879065	3	3	165	1	0	0	0	0	1	0	0	0	2161	506	18	3	754	3	C2orf29	2	101879065	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09	84186879	101879065	141320308	11	9250											
GALNT13	114805	genome.wustl.edu	37	2	155099398	155099398	+	Silent	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr2:155099398G>A	ENST00000392825.3	+	6	1233	c.666G>A	c.(664-666)ctG>ctA	p.L222L	GALNT13_ENST00000409237.1_Silent_p.L222L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	222	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGCCTTTGCTGGCAAGAATAA	0.463																																																0			2											76	71	73					2																	155099398		2203	4300	6503	154807644	SO:0001819	synonymous_variant	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.666G>A	2.37:g.155099398G>A			154807644	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	CCDS2199.1																																																																																				0.463	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		A	155099398	G	A	155099398	2	1	165	1	0	0	0	0	0	0	0	1	6211	1335	47	2		2	GALNT13	2	155099398	Silent	SNP	G	TCGA-20-1685-01A-01W-0633-09	53220333	155099398	88099975	12	9251											
PKP4	8502	genome.wustl.edu	37	2	159519468	159519468	+	Silent	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr2:159519468G>C	ENST00000389759.3	+	14	2383	c.2271G>C	c.(2269-2271)gtG>gtC	p.V757V	PKP4_ENST00000389757.3_Silent_p.V757V|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	757					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)				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						AGCTGGAGGTGCCCCAGGCCC	0.532										HNSCC(62;0.18)																																						0			2											45	47	46					2																	159519468		2203	4300	6503	159227714	SO:0001819	synonymous_variant	0			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.2271G>C	2.37:g.159519468G>C			159227714	Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	7.058	0.565734	0.13560	.	.	ENSG00000144283	ENST00000428353	.	.	.	5.63	0.269	0.15631	.	.	.	.	.	T	0.56775	0.2008	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56974	-0.7890	5	0.87932	D	0	-10.2143	4.1729	0.10337	0.1652:0.1852:0.4963:0.1532	.	.	.	.	S	607	.	ENSP00000397471:C607S	C	+	2	0	PKP4	159227714	0.996000	0.38824	0.990000	0.47175	0.782000	0.44232	0.469000	0.22067	0.328000	0.23435	-0.340000	0.08031	TGC		0.532	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			C	159519468	G	C	159519468	2	2	165	1	0	0	0	0	0	0	0	1	11987	1306	46	3		3	PKP4	2	159519468	Silent	SNP	G	TCGA-20-1685-01A-01W-0633-09	4420070	159519468	83679905	13	9252											
SENP7	57337	genome.wustl.edu	37	3	101085490	101085490	+	Silent	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr3:101085490G>A	ENST00000394095.2	-	9	1155	c.1102C>T	c.(1102-1104)Cta>Tta	p.L368L	SENP7_ENST00000348610.3_Silent_p.L335L|SENP7_ENST00000314261.7_Silent_p.L302L|SENP7_ENST00000394091.1_Silent_p.L204L|SENP7_ENST00000394094.2_Silent_p.L303L|SENP7_ENST00000358203.3_Silent_p.L204L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	368						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGTGAGGATAGTTTAGTAAAA	0.383																																																0			3											111	109	110					3																	101085490		2203	4300	6503	102568180	SO:0001819	synonymous_variant	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1102C>T	3.37:g.101085490G>A			102568180	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	CCDS2941.2																																																																																				0.383	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		A	101085490	G	A	101085490	2	1	165	1	0	0	0	0	0	0	0	1	14054	1020	36	2		2	SENP7	3	101085490	Silent	SNP	G	TCGA-20-1685-01A-01W-0633-09		101085490	96936940	14	9253											
SLC2A9	56606	genome.wustl.edu	37	4	9982324	9982324	+	Missense_Mutation	SNP	C	C	G	rs376990050		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr4:9982324C>G	ENST00000264784.3	-	5	626	c.573G>C	c.(571-573)gaG>gaC	p.E191D	SLC2A9_ENST00000309065.3_Missense_Mutation_p.E162D|SLC2A9_ENST00000506583.1_Missense_Mutation_p.E162D	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	191			E -> D. {ECO:0000269|PubMed:18327256}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TGGGTGAGATCTCACTAAGGT	0.582																																																0			4						C	ASP/GLU,ASP/GLU	0,4406		0,0,2203	70	64	66		486,573	3.7	1	4		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC2A9	NM_001001290.1,NM_020041.2	45,45	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/512,191/541	9982324	1,13005	2203	4300	6503	9591422	SO:0001583	missense	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.573G>C	4.37:g.9982324C>G	ENSP00000264784:p.Glu191Asp		9591422	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570036	0.65765	0.0	1.16E-4	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	4.67	3.67	0.42095	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.131906	0.49916	D	0.000122	D	0.91831	0.7415	M	0.87758	2.905	0.31397	N	0.677148	D;D	0.69078	0.993;0.997	P;D	0.68192	0.894;0.956	D	0.89667	0.3881	9	.	.	.	.	4.1264	0.10129	0.0:0.6968:0.0:0.3032	.	162;191	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	D	162;191;162;162	ENSP00000422209:E162D;ENSP00000264784:E191D;ENSP00000311383:E162D;ENSP00000426800:E162D	.	E	-	3	2	SLC2A9	9591422	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	1.036000	0.30228	2.123000	0.65237	0.650000	0.86243	GAG		0.582	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			G	9982324	C	G	9982324	3	3	165	1	0	0	0	0	1	0	0	0	14555	912	32	3	1081	3	SLC2A9	4	9982324	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09		9982324	181171952	15	9254											
CNGA1	1259	genome.wustl.edu	37	4	47939130	47939130	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr4:47939130G>T	ENST00000514170.1	-	11	1700	c.1381C>A	c.(1381-1383)Cta>Ata	p.L461I	CNGA1_ENST00000402813.3_Missense_Mutation_p.L530I|CNGA1_ENST00000420489.2_Missense_Mutation_p.L461I|CNGA1_ENST00000544810.1_Missense_Mutation_p.L461I|CNGA1_ENST00000358519.4_Missense_Mutation_p.L461I			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	461					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTGCTCTTAGTTTATCAGGT	0.368																																																0			4											170	161	163					4																	47939130		1883	4119	6002	47633887	SO:0001583	missense	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1381C>A	4.37:g.47939130G>T	ENSP00000426862:p.Leu461Ile		47633887	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762480	0.49574	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54	5.22	4.37	0.52481	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000001	D	0.98308	0.9439	M	0.90145	3.09	0.52501	D	0.999954	D;D	0.61697	0.99;0.99	P;P	0.57911	0.829;0.829	D	0.98358	1.0547	10	0.87932	D	0	.	8.4057	0.32614	0.2342:0.0:0.7658:0.0	.	461;461	Q4W5E3;P29973	.;CNGA1_HUMAN	I	530;461;461;461;461	ENSP00000384264:L530I;ENSP00000426862:L461I;ENSP00000443401:L461I;ENSP00000351320:L461I;ENSP00000389881:L461I	ENSP00000351320:L461I	L	-	1	2	CNGA1	47633887	1.000000	0.71417	0.960000	0.40013	0.723000	0.41478	4.614000	0.61183	1.191000	0.43056	0.491000	0.48974	CTA		0.368	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		T	47939130	G	T	47939130	3	4	165	1	0	0	0	0	1	0	0	0	3596	1020	36	3	695	3	CNGA1	4	47939130	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	37956806	47939130	143215146	16	9255											
FGB	2244	genome.wustl.edu	37	4	155490337	155490337	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr4:155490337G>T	ENST00000302068.4	+	6	899	c.836G>T	c.(835-837)tGg>tTg	p.W279L	FGB_ENST00000509493.1_Missense_Mutation_p.W60L|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	279	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACCAAAGGATGGACAGTGATT	0.388																																					NSCLC(106;1133 1613 21870 46110 52656)											0			4											109	109	109					4																	155490337		2203	4300	6503	155709787	SO:0001583	missense	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.836G>T	4.37:g.155490337G>T	ENSP00000306099:p.Trp279Leu		155709787	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039418	0.93630	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;T	0.91577	-2.87;0.6	5.83	5.83	0.93111	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97820	1.0256	10	0.87932	D	0	.	20.126	0.97982	0.0:0.0:1.0:0.0	.	262;279	B4E1D3;P02675	.;FIBB_HUMAN	L	279;262;60	ENSP00000306099:W279L;ENSP00000426757:W60L	ENSP00000306099:W279L	W	+	2	0	FGB	155709787	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.405000	0.97313	2.749000	0.94314	0.655000	0.94253	TGG		0.388	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		T	155490337	G	T	155490337	3	4	165	1	0	0	0	0	1	0	0	0	5831	1357	47	3	858	3	FGB	4	155490337	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	107551207	155490337	35663939	17	9256											
NUDCD2	134492	genome.wustl.edu	37	5	162884595	162884595	+	Missense_Mutation	SNP	T	T	C	rs190479135		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr5:162884595T>C	ENST00000302764.4	-	2	300	c.211A>G	c.(211-213)Ata>Gta	p.I71V	HMMR_ENST00000353866.3_5'Flank|NUDCD2_ENST00000519395.1_5'UTR|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000517501.1_Missense_Mutation_p.I71V	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	71	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TCATCAGCTATTGTAGAATCA	0.269													T|||	1	0.000199681	0	0.0014	5008	,	,		16796	0		0	False		,,,				2504	0															0			5											79	92	88					5																	162884595		2203	4298	6501	162817173	SO:0001583	missense	134492			BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.211A>G	5.37:g.162884595T>C	ENSP00000304854:p.Ile71Val		162817173	B2R4V0	Missense_Mutation	SNP	ENST00000302764.4	37	CCDS4361.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	3.530	-0.095878	0.07010	.	.	ENSG00000170584	ENST00000302764;ENST00000517501	T;T	0.12984	2.63;2.63	5.49	5.49	0.81192	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.093882	0.64402	D	0.000001	T	0.06600	0.0169	N	0.03238	-0.38	0.39718	D	0.971439	B	0.02656	0.0	B	0.01281	0.0	T	0.33599	-0.9862	10	0.11794	T	0.64	-16.8571	15.2332	0.73407	0.0:0.0:0.0:1.0	.	71	Q8WVJ2	NUDC2_HUMAN	V	71	ENSP00000304854:I71V;ENSP00000430347:I71V	ENSP00000304854:I71V	I	-	1	0	NUDCD2	162817173	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.214000	0.51161	2.088000	0.63022	0.533000	0.62120	ATA		0.269	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		C	162884595	T	C	162884595	3	2	165	1	0	0	0	0	1	0	0	0	10723	1493	52	4	274	4	NUDCD2	5	162884595	Missense_Mutation	SNP	T	TCGA-20-1685-01A-01W-0633-09		162884595	18030665	18	9257											
C6orf114	54438	genome.wustl.edu	37	6	13470447	13470447	+	Intron	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr6:13470447G>C	ENST00000379287.3	-	1	918				GFOD1_ENST00000379278.3_5'UTR|GFOD1_ENST00000603223.1_3'UTR|AL583828.1_ENST00000558378.1_Silent_p.T22T	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATCTTGACTGGGTCTGGGGAC	0.567																																																0			6											55	45	48					6																	13470447		2203	4300	6503	13578426	SO:0001627	intron_variant	85411			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16422C>G	6.37:g.13470447G>C			13578426	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Silent	SNP	ENST00000379287.3	37	CCDS4524.1																																																																																				0.567	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		C	13470447	G	C	13470447	1	2	165	0	1	0	0	0	0	0	0	0	2321	1219	43	3		3	C6orf114	6	13470447	Intron	SNP	G	TCGA-20-1685-01A-01W-0633-09		13470447	157644620	19	9258											
DST	667	genome.wustl.edu	37	6	56437682	56437682	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr6:56437682C>G	ENST00000361203.3	-	48	12791	c.12784G>C	c.(12784-12786)Gag>Cag	p.E4262Q	DST_ENST00000244364.6_Missense_Mutation_p.E1850Q|DST_ENST00000446842.2_Missense_Mutation_p.E3938Q|DST_ENST00000370769.4_Missense_Mutation_p.E4264Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.E2176Q|DST_ENST00000370788.2_Missense_Mutation_p.E2176Q|DST_ENST00000370754.5_Missense_Mutation_p.E4442Q			Q03001	DYST_HUMAN	dystonin	4262					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTAGCTCCTCCATTTTGGCA	0.408																																																0			6											109	97	100					6																	56437682		1828	4085	5913	56545641	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12784G>C	6.37:g.56437682C>G	ENSP00000354508:p.Glu4262Gln		56545641	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	18.18	3.565766	0.65651	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.65364	1.09;-0.1;-0.1;0.02;0.88;-0.04;-0.15	5.98	5.98	0.97165	.	0.118364	0.36815	N	0.002398	T	0.71022	0.3291	M	0.62723	1.935	0.26550	N	0.973938	D;D;D;P;P	0.67145	0.968;0.992;0.996;0.857;0.946	P;P;D;P;P	0.71656	0.653;0.904;0.974;0.478;0.802	T	0.62081	-0.6929	9	0.19590	T	0.45	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	2176;4264;4442;4262;1850	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	1850;4442;4264;2176;3938;2176;4262	ENSP00000244364:E1850Q;ENSP00000359790:E4442Q;ENSP00000359805:E4264Q;ENSP00000400883:E2176Q;ENSP00000393645:E3938Q;ENSP00000359824:E2176Q;ENSP00000354508:E4262Q	ENSP00000244364:E1850Q	E	-	1	0	DST	56545641	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.294000	0.78760	2.835000	0.97688	0.650000	0.86243	GAG		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56437682	C	G	56437682	3	3	165	1	0	0	0	0	1	0	0	0	4783	864	30	3	10175	3	DST	6	56437682	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09	42967235	56437682	114677385	20	9259											
PHIP	55023	genome.wustl.edu	37	6	79700592	79700592	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr6:79700592A>G	ENST00000275034.4	-	20	2479	c.2312T>C	c.(2311-2313)gTc>gCc	p.V771A		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	771					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TACCTTTGAGACAGTGGGTAT	0.299																																																0			6											68	71	70					6																	79700592		2203	4296	6499	79757311	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2312T>C	6.37:g.79700592A>G	ENSP00000275034:p.Val771Ala		79757311	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	A	9.576	1.122275	0.20877	.	.	ENSG00000146247	ENST00000275034	T	0.27890	1.64	5.14	3.98	0.46160	.	0.376390	0.25011	N	0.033823	T	0.09113	0.0225	L	0.39898	1.24	0.24273	N	0.995237	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25847	-1.0120	9	.	.	.	-1.7186	8.9949	0.36045	0.9117:0.0:0.0883:0.0	.	771;771	A7J992;Q8WWQ0	.;PHIP_HUMAN	A	771	ENSP00000275034:V771A	.	V	-	2	0	PHIP	79757311	0.888000	0.30383	0.920000	0.36463	0.921000	0.55340	4.086000	0.57664	0.810000	0.34279	0.402000	0.26972	GTC		0.299	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			G	79700592	A	G	79700592	3	3	165	1	0	0	0	0	1	0	0	0	11842	275	10	4	3237	4	PHIP	6	79700592	Missense_Mutation	SNP	A	TCGA-20-1685-01A-01W-0633-09	23262910	79700592	91414475	21	9260											
ABCB5	340273	genome.wustl.edu	37	7	20768044	20768044	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr7:20768044C>G	ENST00000404938.2	+	23	3485	c.2833C>G	c.(2833-2835)Caa>Gaa	p.Q945E	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q500E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	945	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTATTTAATTCAAGCTGGACG	0.453																																																0			7											101	99	100					7																	20768044		2203	4300	6503	20734569	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2833C>G	7.37:g.20768044C>G	ENSP00000384881:p.Gln945Glu		20734569	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	6.277	0.419164	0.11870	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.88896	-2.44;-2.44	3.91	3.91	0.45181	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.246891	0.27331	N	0.019858	T	0.71945	0.3400	N	0.04132	-0.27	0.27573	N	0.949833	B;B;B	0.14012	0.004;0.009;0.002	B;B;B	0.17098	0.017;0.005;0.017	T	0.57165	-0.7858	10	0.09590	T	0.72	.	9.1694	0.37072	0.2168:0.7832:0.0:0.0	.	945;123;500	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	E	945;500	ENSP00000384881:Q945E;ENSP00000258738:Q500E	ENSP00000258738:Q500E	Q	+	1	0	ABCB5	20734569	0.488000	0.25996	1.000000	0.80357	0.991000	0.79684	1.373000	0.34272	2.472000	0.83506	0.655000	0.94253	CAA		0.453	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		G	20768044	C	G	20768044	3	3	165	1	0	0	0	0	1	0	0	0	44	827	29	3	2960	3	ABCB5	7	20768044	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09		20768044	138370619	22	9261											
SMARCA2	6595	genome.wustl.edu	37	9	2039892	2039892	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr9:2039892G>A	ENST00000382203.1	+	4	991	c.782G>A	c.(781-783)aGa>aAa	p.R261K	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R261K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R261K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R261K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	261					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AACTACAACAGACCATCTGGT	0.542																																																0			9											38	39	39					9																	2039892		2203	4300	6503	2029892	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.782G>A	9.37:g.2039892G>A	ENSP00000371638:p.Arg261Lys		2029892	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612646	0.28712	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.59	5.59	0.84812	.	0.415936	0.26955	N	0.021648	T	0.65471	0.2694	N	0.01352	-0.895	0.80722	D	1	P;P	0.47910	0.902;0.841	P;P	0.60173	0.87;0.745	T	0.65907	-0.6054	10	0.05721	T	0.95	-5.231	17.0833	0.86604	0.0:0.0:1.0:0.0	.	261;261	P51531-2;P51531	.;SMCA2_HUMAN	K	261	ENSP00000265773:R261K;ENSP00000349788:R261K;ENSP00000392081:R261K;ENSP00000371638:R261K;ENSP00000371629:R261K	ENSP00000265773:R261K	R	+	2	0	SMARCA2	2029892	1.000000	0.71417	0.253000	0.24343	0.970000	0.65996	6.696000	0.74598	2.645000	0.89757	0.650000	0.86243	AGA		0.542	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039892	G	A	2039892	3	1	165	1	0	0	0	0	1	0	0	0	14772	942	33	2	792	2	SMARCA2	9	2039892	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09		2039892	139173539	23	9262											
PRUNE2	158471	genome.wustl.edu	37	9	79319997	79319997	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr9:79319997A>C	ENST00000376718.3	-	8	7316	c.7193T>G	c.(7192-7194)tTg>tGg	p.L2398W	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L2039W	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2398					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGATAAGACAAATCAAAGGG	0.502																																																0			9											72	67	68					9																	79319997		1568	3582	5150	78509817	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7193T>G	9.37:g.79319997A>C	ENSP00000365908:p.Leu2398Trp		78509817	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.48|14.48	2.549211|2.549211	0.45383|0.45383	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.57907	.|0.37;0.38	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.47093	.|D	.|0.000251	T|T	0.67915|0.67915	0.2944|0.2944	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.75484	.|0.986	T|T	0.71374|0.71374	-0.4612|-0.4612	5|10	.|0.87932	.|D	.|0	-10.1491|-10.1491	9.4534|9.4534	0.38741|0.38741	0.9144:0.0:0.0856:0.0|0.9144:0.0:0.0856:0.0	.|.	.|2398	.|Q8WUY3	.|PRUN2_HUMAN	L|W	1719|2398;2039;2397	.|ENSP00000365908:L2398W;ENSP00000397425:L2039W	.|ENSP00000365908:L2398W	F|L	-|-	3|2	2|0	PRUNE2|PRUNE2	78509817|78509817	0.877000|0.877000	0.30153|0.30153	0.997000|0.997000	0.53966|0.53966	0.212000|0.212000	0.24457|0.24457	3.163000|3.163000	0.50763|0.50763	2.220000|2.220000	0.72140|0.72140	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.502	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79319997	A	C	79319997	3	2	165	1	0	0	0	0	1	0	0	0	12644	131	5	5	2121	5	PRUNE2	9	79319997	Missense_Mutation	SNP	A	TCGA-20-1685-01A-01W-0633-09	77280105	79319997	61893434	24	9263											
NUP188	23511	genome.wustl.edu	37	9	131768870	131768870	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr9:131768870G>C	ENST00000372577.2	+	44	5184	c.5163G>C	c.(5161-5163)aaG>aaC	p.K1721N	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1721					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CGCAGGGCAAGTCCACCTCTC	0.617											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			9											99	95	96					9																	131768870		2203	4300	6503	130808691	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.5163G>C	9.37:g.131768870G>C	ENSP00000361658:p.Lys1721Asn	1590	130808691	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938007	0.73557	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35605	1.3	5.22	3.36	0.38483	.	0.146868	0.64402	D	0.000012	T	0.41673	0.1169	L	0.54323	1.7	0.46279	D	0.998966	B	0.20780	0.048	B	0.38803	0.282	T	0.37686	-0.9695	10	0.66056	D	0.02	-2.2628	11.2595	0.49074	0.1514:0.0:0.8486:0.0	.	1721	Q5SRE5	NU188_HUMAN	N	1610;1721	ENSP00000361658:K1721N	ENSP00000349125:K1610N	K	+	3	2	NUP188	130808691	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.086000	0.41643	0.561000	0.29186	0.561000	0.74099	AAG		0.617	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			C	131768870	G	C	131768870	3	2	165	1	0	0	0	0	1	0	0	0	10758	1020	36	3	5337	3	NUP188	9	131768870	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	52448873	131768870	9444561	25	9264											
CUBN	8029	genome.wustl.edu	37	10	16877187	16877187	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr10:16877187G>T	ENST00000377833.4	-	64	10253	c.10188C>A	c.(10186-10188)aaC>aaA	p.N3396K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3396	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATAGTCTCTGTTGCAATCTT	0.413																																																0			10											114	104	108					10																	16877187		2203	4300	6503	16917193	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10188C>A	10.37:g.16877187G>T	ENSP00000367064:p.Asn3396Lys		16917193	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151721	0.38021	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.17054	2.3	4.84	3.01	0.34805	CUB (5);	0.288485	0.24740	N	0.035988	T	0.24699	0.0599	L	0.45422	1.42	0.80722	D	1	D	0.59767	0.986	P	0.60609	0.877	T	0.01858	-1.1259	10	0.23891	T	0.37	.	8.7416	0.34560	0.2308:0.0:0.7692:0.0	.	3396	O60494	CUBN_HUMAN	K	3396;237	ENSP00000367064:N3396K	ENSP00000367064:N3396K	N	-	3	2	CUBN	16917193	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	3.486000	0.53215	0.657000	0.30906	-0.224000	0.12420	AAC		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16877187	G	T	16877187	3	4	165	1	0	0	0	0	1	0	0	0	4051	1368	48	3	699	3	CUBN	10	16877187	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09		16877187	118657560	26	9265											
ARL5B	221079	genome.wustl.edu	37	10	18957497	18957497	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr10:18957497G>A	ENST00000377275.3	+	3	379	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	49					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						CCAACCATAGGAAGCAATGTT	0.373																																																0			10											127	121	123					10																	18957497		2203	4300	6503	18997503	SO:0001583	missense	221079			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23052	protein-coding gene	gene with protein product		608909	"ADP-ribosylation factor-like 8"	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.146G>A	10.37:g.18957497G>A	ENSP00000366487:p.Gly49Glu		18997503		Missense_Mutation	SNP	ENST00000377275.3	37	CCDS7131.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523589	0.64747	.	.	ENSG00000165997	ENST00000377275	D	0.85773	-2.03	5.83	4.93	0.64822	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93556	0.7943	M	0.93420	3.415	0.80722	D	1	D	0.54964	0.969	P	0.62298	0.9	D	0.95019	0.8159	10	0.87932	D	0	-16.4588	14.8941	0.70630	0.0685:0.0:0.9315:0.0	.	49	Q96KC2	ARL5B_HUMAN	E	49	ENSP00000366487:G49E	ENSP00000366487:G49E	G	+	2	0	ARL5B	18997503	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	9.864000	0.99589	1.477000	0.48234	-0.136000	0.14681	GGA		0.373	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815		A	18957497	G	A	18957497	3	1	165	1	0	0	0	0	1	0	0	0	940	1174	41	2	156	2	ARL5B	10	18957497	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	2080310	18957497	116577250	27	9266											
PDZD8	118987	genome.wustl.edu	37	10	119043968	119043968	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr10:119043968G>A	ENST00000334464.5	-	5	2515	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	759					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.A759V(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGGTGAGGGGGCTTCCAGTCT	0.418																																																1	Substitution - Missense(1)	large_intestine(1)	10											128	114	119					10																	119043968		2203	4300	6503	119033958	SO:0001583	missense	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2276C>T	10.37:g.119043968G>A	ENSP00000334642:p.Ala759Val		119033958	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664717	0.67700	.	.	ENSG00000165650	ENST00000334464	D	0.86769	-2.17	5.96	5.96	0.96718	.	0.113339	0.64402	D	0.000013	D	0.84074	0.5392	L	0.29908	0.895	0.43360	D	0.995434	P	0.46706	0.883	B	0.42827	0.399	D	0.84944	0.0867	10	0.54805	T	0.06	-3.8266	20.4116	0.99017	0.0:0.0:1.0:0.0	.	759	Q8NEN9	PDZD8_HUMAN	V	759	ENSP00000334642:A759V	ENSP00000334642:A759V	A	-	2	0	PDZD8	119033958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	GCC		0.418	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		A	119043968	G	A	119043968	3	1	165	1	0	0	0	0	1	0	0	0	11705	1203	42	2	1192	2	PDZD8	10	119043968	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	100086471	119043968	16490779	28	9267											
STK33	65975	genome.wustl.edu	37	11	8457667	8457667	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:8457667A>T	ENST00000447869.1	-	9	1885	c.967T>A	c.(967-969)Ttt>Att	p.F323I	STK33_ENST00000534493.1_Missense_Mutation_p.F282I|STK33_ENST00000315204.1_Missense_Mutation_p.F323I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Missense_Mutation_p.F323I|STK33_ENST00000358872.3_Missense_Mutation_p.F136I|STK33_ENST00000396673.1_Missense_Mutation_p.F323I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTTGCCAAAAAGGGTGGTTCT	0.323																																																0			11											46	42	44					11																	8457667		2201	4296	6497	8414243	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.967T>A	11.37:g.8457667A>T	ENSP00000416750:p.Phe323Ile		8414243	Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761129	0.89932	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	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	0.64216	0.2578	M	0.89601	3.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72117	-0.4387	10	0.87932	D	0	.	16.2377	0.82389	1.0:0.0:0.0:0.0	.	282;323	B4DDH2;Q9BYT3	.;STK33_HUMAN	I	323;323;323;136;323;78;282	ENSP00000416750:F323I;ENSP00000320754:F323I;ENSP00000379905:F323I;ENSP00000351743:F136I;ENSP00000379906:F323I;ENSP00000415688:F78I;ENSP00000436418:F282I	ENSP00000320754:F323I	F	-	1	0	STK33	8414243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.232000	0.78116	2.371000	0.80710	0.533000	0.62120	TTT		0.323	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		T	8457667	A	T	8457667	3	4	165	1	0	0	0	0	1	0	0	0	15302	72	3	5	593	5	STK33	11	8457667	Missense_Mutation	SNP	A	TCGA-20-1685-01A-01W-0633-09		8457667	126548849	29	9268											
SSH3	54961	genome.wustl.edu	37	11	67074401	67074401	+	Silent	SNP	G	G	A	rs528844729		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:67074401G>A	ENST00000308127.4	+	4	610	c.432G>A	c.(430-432)acG>acA	p.T144T	SSH3_ENST00000308298.7_Silent_p.T144T|SSH3_ENST00000376757.5_Silent_p.T144T|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	144					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGGATGAGACGGTCCTCCTGG	0.637													G|||	1	0.000199681	0	0	5008	,	,		19442	0		0	False		,,,				2504	0.001															0			11											49	47	48					11																	67074401		2200	4295	6495	66830977	SO:0001819	synonymous_variant	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.432G>A	11.37:g.67074401G>A			66830977	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	CCDS8157.1																																																																																				0.637	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		A	67074401	G	A	67074401	2	1	165	1	0	0	0	0	0	0	0	1	15188	1103	39	1		1	SSH3	11	67074401	Silent	SNP	G	TCGA-20-1685-01A-01W-0633-09	58616734	67074401	67932115	30	9269											
IGHMBP2	3508	genome.wustl.edu	37	11	68673626	68673626	+	Missense_Mutation	SNP	T	T	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:68673626T>A	ENST00000255078.3	+	2	287	c.176T>A	c.(175-177)cTg>cAg	p.L59Q	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.L59Q|MRPL21_ENST00000450904.2_5'Flank|MRPL21_ENST00000362034.2_5'Flank|MRPL21_ENST00000567045.1_5'Flank	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	59					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGCACTGGGCTGTACGGACGG	0.582																																																0			11											99	98	98					11																	68673626		2200	4294	6494	68430202	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.176T>A	11.37:g.68673626T>A	ENSP00000255078:p.Leu59Gln		68430202	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.886896	0.72410	.	.	ENSG00000132740	ENST00000255078;ENST00000539224	D;T	0.93076	-3.16;-0.94	3.63	3.63	0.41609	.	0.273894	0.30547	N	0.009396	D	0.96800	0.8955	M	0.90870	3.155	0.48288	D	0.999628	D	0.89917	1.0	D	0.80764	0.994	D	0.96933	0.9682	10	0.87932	D	0	-18.7944	10.5064	0.44836	0.0:0.0:0.0:1.0	.	59	P38935	SMBP2_HUMAN	Q	59	ENSP00000255078:L59Q;ENSP00000440465:L59Q	ENSP00000255078:L59Q	L	+	2	0	IGHMBP2	68430202	1.000000	0.71417	0.970000	0.41538	0.780000	0.44128	6.813000	0.75231	1.635000	0.50512	0.459000	0.35465	CTG		0.582	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		A	68673626	T	A	68673626	3	1	165	1	0	0	0	0	1	0	0	0	7591	1580	55	5	182	5	IGHMBP2	11	68673626	Missense_Mutation	SNP	T	TCGA-20-1685-01A-01W-0633-09	1599225	68673626	66332890	31	9270											
INPPL1	3636	genome.wustl.edu	37	11	71939237	71939237	+	Silent	SNP	T	T	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:71939237T>C	ENST00000298229.2	+	2	390	c.186T>C	c.(184-186)taT>taC	p.Y62Y	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	62	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCATCAGGTATCAGAAGCATG	0.587																																																0			11											121	107	112					11																	71939237		2200	4293	6493	71616885	SO:0001819	synonymous_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.186T>C	11.37:g.71939237T>C			71616885	B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	CCDS8213.1																																																																																				0.587	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		C	71939237	T	C	71939237	2	2	165	1	0	0	0	0	0	0	0	1	7761	1442	50	4		4	INPPL1	11	71939237	Silent	SNP	T	TCGA-20-1685-01A-01W-0633-09	3265611	71939237	63067279	32	9271											
C2CD3	26005	genome.wustl.edu	37	11	73785420	73785420	+	Missense_Mutation	SNP	G	G	T	rs576006031		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:73785420G>T	ENST00000334126.7	-	24	5055	c.4829C>A	c.(4828-4830)aCc>aAc	p.T1610N	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1610N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1610					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGGACCTGGGTGGAGGCAGG	0.577																																																0			11											132	113	120					11																	73785420		2200	4293	6493	73463068	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4829C>A	11.37:g.73785420G>T	ENSP00000334379:p.Thr1610Asn		73463068	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	G	3.500	-0.101989	0.06967	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.14144	2.91;2.92;2.53	5.25	3.38	0.38709	.	1.162760	0.05975	N	0.643188	T	0.12008	0.0292	L	0.27053	0.805	0.22366	N	0.999164	P	0.39216	0.664	B	0.38616	0.277	T	0.33471	-0.9867	10	0.23302	T	0.38	-0.4874	10.1166	0.42593	0.2244:0.0:0.7756:0.0	.	1610	Q4AC94-1	.	N	1610;1610;1591;418	ENSP00000334379:T1610N;ENSP00000323339:T1610N;ENSP00000388750:T418N	ENSP00000323339:T1610N	T	-	2	0	C2CD3	73463068	0.981000	0.34729	0.957000	0.39632	0.145000	0.21501	0.997000	0.29731	0.870000	0.35726	0.655000	0.94253	ACC		0.577	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		T	73785420	G	T	73785420	3	4	165	1	0	0	0	0	1	0	0	0	2154	1261	44	3	1094	3	C2CD3	11	73785420	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	1846183	73785420	61221096	33	9272											
ARHGEF12	23365	genome.wustl.edu	37	11	120347425	120347425	+	Silent	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:120347425A>G	ENST00000397843.2	+	34	3499	c.3333A>G	c.(3331-3333)gaA>gaG	p.E1111E	ARHGEF12_ENST00000532993.1_Silent_p.E1008E|ARHGEF12_ENST00000356641.3_Silent_p.E1092E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1111	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGATTTATGAACTGGTGGCAC	0.363			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0			11											120	114	116					11																	120347425		1865	4113	5978	119852635	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3333A>G	11.37:g.120347425A>G			119852635	O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																				0.363	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		G	120347425	A	G	120347425	2	3	165	1	0	0	0	0	0	0	0	1	897	40	2	4		4	ARHGEF12	11	120347425	Silent	SNP	A	TCGA-20-1685-01A-01W-0633-09	46562005	120347425	14659091	34	9273											
GRIK4	2900	genome.wustl.edu	37	11	120702642	120702642	+	Missense_Mutation	SNP	G	G	A	rs562688896		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:120702642G>A	ENST00000527524.2	+	7	880	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	GRIK4_ENST00000438375.2_Missense_Mutation_p.R198Q	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	198					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GATGACACCCGGGACCCCACC	0.597													G|||	1	0.000199681	0	0.0014	5008	,	,		13023	0		0	False		,,,				2504	0															0			11											111	103	105					11																	120702642		2203	4299	6502	120207852	SO:0001583	missense	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.593G>A	11.37:g.120702642G>A	ENSP00000435648:p.Arg198Gln		120207852	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316272	0.40996	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.82619	-1.63;-1.63	4.81	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.709587	0.14039	N	0.345548	T	0.71558	0.3354	N	0.12182	0.205	0.36549	D	0.87174	B;B	0.22604	0.041;0.072	B;B	0.09377	0.004;0.004	T	0.68655	-0.5351	10	0.30078	T	0.28	.	18.0832	0.89449	0.0:0.0:1.0:0.0	.	198;198	A6H8K8;Q16099	.;GRIK4_HUMAN	Q	198	ENSP00000435648:R198Q;ENSP00000404063:R198Q	ENSP00000404063:R198Q	R	+	2	0	GRIK4	120207852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.615000	0.46368	2.477000	0.83638	0.561000	0.74099	CGG		0.597	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		A	120702642	G	A	120702642	3	1	165	1	0	0	0	0	1	0	0	0	6776	1116	39	1	611	1	GRIK4	11	120702642	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	355217	120702642	14303874	35	9274											
GLB1L2	89944	genome.wustl.edu	37	11	134241661	134241661	+	Silent	SNP	A	A	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:134241661A>C	ENST00000535456.2	+	15	1632	c.1444A>C	c.(1444-1446)Agg>Cgg	p.R482R	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.R482R|GLB1L2_ENST00000339772.7_Silent_p.R482R	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	482					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CACCGTGCTGAGGATCTTGGT	0.542																																																0			11											122	108	113					11																	134241661		2201	4297	6498	133746871	SO:0001819	synonymous_variant	89944				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1444A>C	11.37:g.134241661A>C			133746871	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	A	7.676	0.688061	0.14973	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.74	4.6	0.57074	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54662	-0.8260	4	.	.	.	-34.0238	7.1622	0.25671	0.5791:0.2842:0.0:0.1367	.	.	.	.	A	420	.	.	E	+	2	0	GLB1L2	133746871	1.000000	0.71417	0.999000	0.59377	0.604000	0.37047	2.036000	0.41165	1.091000	0.41335	-0.329000	0.08387	GAG		0.542	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		C	134241661	A	C	134241661	2	2	165	1	0	0	0	0	0	0	0	1	6429	295	11	5		5	GLB1L2	11	134241661	Silent	SNP	A	TCGA-20-1685-01A-01W-0633-09	13539019	134241661	764855	36	9275											
H3F3C	440093	genome.wustl.edu	37	12	31944867	31944867	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:31944867G>T	ENST00000340398.3	-	1	308	c.234C>A	c.(232-234)ttC>ttA	p.F78L		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	78					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GGTCAGTGTTGAAATCCTGCG	0.582										HNSCC(67;0.2)																																						0			12											120	111	114					12																	31944867		2203	4300	6503	31836134	SO:0001583	missense	440093			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"Histones / Replication-independent"	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.234C>A	12.37:g.31944867G>T	ENSP00000339835:p.Phe78Leu		31836134	E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086411	0.36855	.	.	ENSG00000188375	ENST00000340398	T	0.41758	0.99	1.3	1.3	0.21679	Histone-fold (2);Histone core (1);	0.000000	0.53938	U	0.000056	T	0.46308	0.1386	M	0.67953	2.075	0.38910	D	0.957508	P	0.36483	0.555	P	0.45639	0.488	T	0.54563	-0.8275	10	0.87932	D	0	.	8.6214	0.33864	0.0:0.0:1.0:0.0	.	78	Q6NXT2	H3C_HUMAN	L	78	ENSP00000339835:F78L	ENSP00000339835:F78L	F	-	3	2	H3F3C	31836134	1.000000	0.71417	0.087000	0.20705	0.081000	0.17604	4.942000	0.63547	1.049000	0.40321	0.413000	0.27773	TTC		0.582	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		T	31944867	G	T	31944867	3	4	165	1	0	0	0	0	1	0	0	0	6935	1281	45	3	177	3	H3F3C	12	31944867	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09		31944867	101907028	37	9276											
KRT83	3889	genome.wustl.edu	37	12	52711550	52711550	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:52711550C>G	ENST00000293670.3	-	4	727	c.665G>C	c.(664-666)tGc>tCc	p.C222S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	222	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGGTAGGCGCAGTCCACATC	0.622																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)											0			12											90	91	91					12																	52711550		2203	4300	6503	50997817	SO:0001583	missense	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.665G>C	12.37:g.52711550C>G	ENSP00000293670:p.Cys222Ser		50997817	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309261	0.23821	.	.	ENSG00000170523	ENST00000293670	D	0.87887	-2.31	4.64	4.64	0.57946	Filament (1);	0.000000	0.46758	U	0.000269	D	0.82701	0.5094	L	0.43152	1.355	0.32391	N	0.553215	B	0.06786	0.001	B	0.13407	0.009	D	0.83484	0.0066	10	0.51188	T	0.08	.	13.7228	0.62737	0.0:0.7227:0.2773:0.0	.	222	P78385	KRT83_HUMAN	S	222	ENSP00000293670:C222S	ENSP00000293670:C222S	C	-	2	0	KRT83	50997817	0.004000	0.15560	1.000000	0.80357	0.852000	0.48524	0.349000	0.20055	2.299000	0.77371	0.655000	0.94253	TGC		0.622	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		G	52711550	C	G	52711550	3	3	165	1	0	0	0	0	1	0	0	0	8497	710	25	3	840	3	KRT83	12	52711550	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09	20766683	52711550	81140345	38	9277											
TSFM	10677	genome.wustl.edu	37	12	58190306	58190306	+	IGR	SNP	G	G	A	rs149429981		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:58190306G>A	ENST00000257861.3	-	0	2891				TSFM_ENST00000454289.3_Silent_p.S306S|TSFM_ENST00000350762.5_Silent_p.S266S|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000323833.8_Silent_p.S327S|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000550559.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGGGGGTGTCGGTAGTAGACT	0.507																																																0			12						G	,,,	2,4404	4.2+/-10.8	0,2,2201	61	55	57		,981,,918	-4.9	0.7	12	dbSNP_134	57	0,8600		0,0,4300	no	utr-3,coding-synonymous,intron,coding-synonymous	TSFM	NM_001172695.1,NM_001172696.1,NM_001172697.1,NM_005726.5	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	,327/347,,306/326	58190306	2,13004	2203	4300	6503	56476573	SO:0001628	intergenic_variant	10102			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461		12.37:g.58190306G>A			56476573	B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	CCDS8959.1																																																																																				0.507	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		A	58190306	G	A	58190306	1	1	165	0	1	0	0	0	0	0	0	0	16615	1103	39	1		1	TSFM	12	58190306	IGR	SNP	G	TCGA-20-1685-01A-01W-0633-09	5478756	58190306	75661589	39	9278											
EEA1	8411	genome.wustl.edu	37	12	93219961	93219961	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:93219961G>C	ENST00000322349.8	-	13	1769	c.1505C>G	c.(1504-1506)gCa>gGa	p.A502G		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	502	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCGAAGTTTTGCCGTGGTGCT	0.323																																																0			12											219	198	205					12																	93219961		2203	4300	6503	91744092	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1505C>G	12.37:g.93219961G>C	ENSP00000317955:p.Ala502Gly		91744092	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372396	0.24857	.	.	ENSG00000102189	ENST00000322349	T	0.78003	-1.14	5.14	5.14	0.70334	.	0.656596	0.13211	N	0.405143	T	0.63768	0.2539	N	0.08118	0	0.30409	N	0.779293	B	0.24258	0.1	B	0.21708	0.036	T	0.57837	-0.7742	10	0.29301	T	0.29	.	18.5865	0.91191	0.0:0.0:1.0:0.0	.	502	Q15075	EEA1_HUMAN	G	502	ENSP00000317955:A502G	ENSP00000317955:A502G	A	-	2	0	EEA1	91744092	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	6.347000	0.73004	2.401000	0.81631	0.460000	0.39030	GCA		0.323	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		C	93219961	G	C	93219961	3	2	165	1	0	0	0	0	1	0	0	0	4921	1319	46	3	2798	3	EEA1	12	93219961	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	35029655	93219961	40631934	40	9279											
LRRC43	254050	genome.wustl.edu	37	12	122674696	122674696	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:122674696G>A	ENST00000339777.4	+	5	710	c.682G>A	c.(682-684)Gac>Aac	p.D228N	LRRC43_ENST00000425921.1_Missense_Mutation_p.D43N	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	228										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CGTCTCCCTGGACCTGGGCTT	0.652																																																0			12											110	121	118					12																	122674696		2145	4249	6394	121240649	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.682G>A	12.37:g.122674696G>A	ENSP00000344233:p.Asp228Asn		121240649	Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064669	0.76187	.	.	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.25749	1.78;1.78;1.78	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	L	0.58925	1.835	0.47819	D	0.999522	D	0.71674	0.998	D	0.81914	0.995	T	0.46428	-0.9192	10	0.52906	T	0.07	-52.8423	17.807	0.88604	0.0:0.0:1.0:0.0	.	228	Q8N309	LRC43_HUMAN	N	43;228;99;43	ENSP00000438751:D43N;ENSP00000344233:D228N;ENSP00000416628:D43N	ENSP00000289014:D99N	D	+	1	0	LRRC43	121240649	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.918000	0.87506	2.309000	0.77851	0.561000	0.74099	GAC		0.652	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		A	122674696	G	A	122674696	3	1	165	1	0	0	0	0	1	0	0	0	9001	1174	41	2	700	2	LRRC43	12	122674696	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	29454735	122674696	11177199	41	9280											
TMEM132B	114795	genome.wustl.edu	37	12	126138278	126138278	+	Silent	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:126138278A>G	ENST00000299308.3	+	9	2267	c.2259A>G	c.(2257-2259)gaA>gaG	p.E753E	TMEM132B_ENST00000535886.1_Silent_p.E265E	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	753						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGAGGGTGAAGGACAAGGGC	0.438																																																0			12											137	132	133					12																	126138278		1930	4140	6070	124704231	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2259A>G	12.37:g.126138278A>G			124704231	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.438	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		G	126138278	A	G	126138278	2	3	165	1	0	0	0	0	0	0	0	1	16046	69	3	4		4	TMEM132B	12	126138278	Silent	SNP	A	TCGA-20-1685-01A-01W-0633-09	3463582	126138278	7713617	42	9281											
USPL1	10208	genome.wustl.edu	37	13	31205033	31205033	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr13:31205033G>A	ENST00000255304.4	+	4	632	c.290G>A	c.(289-291)tGt>tAt	p.C97Y	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	97					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTGGAAGAATGTCACACTCCA	0.323																																					Ovarian(60;318 1180 1554 28110 31601)											0			13											61	63	62					13																	31205033		2203	4300	6503	30103033	SO:0001583	missense	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.290G>A	13.37:g.31205033G>A	ENSP00000255304:p.Cys97Tyr		30103033	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.197695	0.00299	.	.	ENSG00000132952	ENST00000255304	T	0.06768	3.26	6.07	-1.73	0.08081	.	1.131910	0.06188	N	0.680878	T	0.05502	0.0145	L	0.42245	1.32	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.43766	-0.9371	10	0.08381	T	0.77	0.0227	0.2182	0.00164	0.2634:0.2421:0.1555:0.3389	.	97	Q5W0Q7	USPL1_HUMAN	Y	97	ENSP00000255304:C97Y	ENSP00000255304:C97Y	C	+	2	0	USPL1	30103033	0.884000	0.30299	0.059000	0.19551	0.088000	0.18126	0.243000	0.18106	-0.060000	0.13132	0.655000	0.94253	TGT		0.323	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		A	31205033	G	A	31205033	3	1	165	1	0	0	0	0	1	0	0	0	17092	1377	48	2	300	2	USPL1	13	31205033	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09		31205033	83964845	43	9282											
NAA16	79612	genome.wustl.edu	37	13	41905483	41905483	+	Silent	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr13:41905483A>G	ENST00000379406.3	+	8	1209	c.885A>G	c.(883-885)agA>agG	p.R295R	NAA16_ENST00000379367.3_Silent_p.R295R|NAA16_ENST00000403412.3_Silent_p.R295R	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	295					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CACCCAGAAGATTACCTTTGA	0.303																																																0			13											77	84	82					13																	41905483		2203	4296	6499	40803483	SO:0001819	synonymous_variant	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.885A>G	13.37:g.41905483A>G			40803483	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	ENST00000379406.3	37	CCDS9379.1																																																																																				0.303	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		G	41905483	A	G	41905483	2	3	165	1	0	0	0	0	0	0	0	1	10119	330	12	4		4	NAA16	13	41905483	Silent	SNP	A	TCGA-20-1685-01A-01W-0633-09	10700450	41905483	73264395	44	9283											
TBPL2	387332	genome.wustl.edu	37	14	55903530	55903530	+	Missense_Mutation	SNP	G	G	T	rs369692725		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr14:55903530G>T	ENST00000247219.5	-	2	427	c.357C>A	c.(355-357)caC>caA	p.H119Q		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTTCAGTTTCGTGTTTGCTAA	0.438																																																0			14											194	163	174					14																	55903530		2203	4300	6503	54973283	SO:0001583	missense	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.357C>A	14.37:g.55903530G>T	ENSP00000247219:p.His119Gln		54973283		Missense_Mutation	SNP	ENST00000247219.5	37	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.399723	0.01165	.	.	ENSG00000182521	ENST00000247219	T	0.42513	0.97	4.89	-3.09	0.05331	.	0.723155	0.12905	N	0.429462	T	0.18130	0.0435	L	0.38531	1.155	0.09310	N	1	B	0.27882	0.192	B	0.23150	0.044	T	0.31668	-0.9935	10	0.02654	T	1	4.5987	0.2077	0.00153	0.2477:0.2731:0.1828:0.2965	.	119	Q6SJ96	TBPL2_HUMAN	Q	119	ENSP00000247219:H119Q	ENSP00000247219:H119Q	H	-	3	2	TBPL2	54973283	0.001000	0.12720	0.005000	0.12908	0.011000	0.07611	0.077000	0.14738	-0.242000	0.09667	-0.339000	0.08088	CAC		0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		T	55903530	G	T	55903530	3	4	165	1	0	0	0	0	1	0	0	0	15646	1136	40	3	794	3	TBPL2	14	55903530	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09		55903530	51446010	45	9284											
ARG2	384	genome.wustl.edu	37	14	68113451	68113451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr14:68113451G>T	ENST00000261783.3	+	5	793	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	205					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	GGACCCTCCTGAACAGTAAGT	0.433																																																0			14											170	158	162					14																	68113451		2203	4300	6503	67183204	SO:0001587	stop_gained	384			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"arginase, type II"			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.613G>T	14.37:g.68113451G>T	ENSP00000261783:p.Glu205*		67183204	B2R690|Q6FHY8	Nonsense_Mutation	SNP	ENST00000261783.3	37	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209626	0.95069	.	.	ENSG00000081181	ENST00000261783	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	205	.	ENSP00000261783:E205X	E	+	1	0	ARG2	67183204	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	9.739000	0.98837	2.873000	0.98535	0.561000	0.74099	GAA		0.433	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		T	68113451	G	T	68113451	4	4	165	1	0	0	0	0	0	1	0	0	858	1291	45	3	631	3	ARG2	14	68113451	Nonsense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	12209921	68113451	39236089	46	9285											
C15orf2	23742	genome.wustl.edu	37	15	24921934	24921934	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:24921934C>A	ENST00000329468.2	+	1	1394	c.920C>A	c.(919-921)cCt>cAt	p.P307H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	307	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GATGAGAAGCCTTTCTGTATT	0.582																																																0			15											52	51	51					15																	24921934		2203	4300	6503	22473027	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.920C>A	15.37:g.24921934C>A	ENSP00000333735:p.Pro307His		22473027		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	7.686	0.690114	0.15039	.	.	ENSG00000185823	ENST00000329468	T	0.11821	2.74	1.97	-1.7	0.08159	.	2.733260	0.01617	N	0.022826	T	0.24198	0.0586	L	0.42245	1.32	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.19516	-1.0303	10	0.39692	T	0.17	.	0.697	0.00900	0.2409:0.3513:0.2371:0.1707	.	307	Q9NZP6	CO002_HUMAN	H	307	ENSP00000333735:P307H	ENSP00000333735:P307H	P	+	2	0	C15orf2	22473027	0.001000	0.12720	0.000000	0.03702	0.102000	0.19082	0.149000	0.16243	-0.433000	0.07286	0.205000	0.17691	CCT		0.582	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24921934	C	A	24921934	3	1	165	1	0	0	0	0	1	0	0	0	1784	681	24	3	922	3	C15orf2	15	24921934	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09		24921934	77609458	47	9286											
GABRB3	2562	genome.wustl.edu	37	15	26793249	26793249	+	Silent	SNP	C	C	T	rs139370891	byFrequency	TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:26793249C>T	ENST00000311550.5	-	9	1224	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	GABRB3_ENST00000400188.3_Silent_p.S300S|GABRB3_ENST00000299267.4_Silent_p.S371S|GABRB3_ENST00000541819.2_Silent_p.S427S|GABRB3_ENST00000545868.1_Silent_p.S286S	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	371					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.S371S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAACTTCCAGCGATGTCAACA	0.453																																																1	Substitution - coding silent(1)	lung(1)	15						C	,,,	0,4406		0,0,2203	126	120	122		1113,858,900,1113	-7	0.1	15	dbSNP_134	122	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,	371/474,286/389,300/403,371/474	26793249	3,13003	2203	4300	6503	24344342	SO:0001819	synonymous_variant	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1113G>A	15.37:g.26793249C>T			24344342	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	CCDS10019.1																																																																																				0.453	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			T	26793249	C	T	26793249	2	4	165	1	0	0	0	0	0	0	0	1	6168	755	27	1		1	GABRB3	15	26793249	Silent	SNP	C	TCGA-20-1685-01A-01W-0633-09	1871315	26793249	75738143	48	9287											
HERC2	8924	genome.wustl.edu	37	15	28414686	28414686	+	Silent	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:28414686C>A	ENST00000261609.7	-	66	10281	c.10173G>T	c.(10171-10173)ctG>ctT	p.L3391L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGTTTGGCCAGATTTCCAT	0.403																																																0			15											83	79	80					15																	28414686		2203	4300	6503	26088281	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10173G>T	15.37:g.28414686C>A			26088281		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.403	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28414686	C	A	28414686	2	1	165	1	0	0	0	0	0	0	0	1	7058	581	21	3		3	HERC2	15	28414686	Silent	SNP	C	TCGA-20-1685-01A-01W-0633-09	1621437	28414686	74116706	49	9288											
UNC13C	440279	genome.wustl.edu	37	15	54305271	54305271	+	Nonsense_Mutation	SNP	C	C	A	rs150304639		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:54305271C>A	ENST00000260323.11	+	1	171	c.171C>A	c.(169-171)taC>taA	p.Y57*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.Y57*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Y57*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	57					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTTTCTTACACTTTTAAAA	0.408																																																0			15											88	91	90					15																	54305271		1834	4071	5905	52092563	SO:0001587	stop_gained	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.171C>A	15.37:g.54305271C>A	ENSP00000260323:p.Tyr57*		52092563	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883847	0.33255	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	4.48	-4.13	0.03904	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.9042	0.35512	0.0:0.4433:0.1098:0.4469	.	.	.	.	X	57	.	ENSP00000260323:Y57X	Y	+	3	2	UNC13C	52092563	0.365000	0.25006	0.448000	0.26945	0.006000	0.05464	0.044000	0.13992	-0.707000	0.05022	-2.115000	0.00351	TAC		0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54305271	C	A	54305271	4	1	165	1	0	0	0	0	0	1	0	0	16986	489	17	3	173	3	UNC13C	15	54305271	Nonsense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09	25890585	54305271	48226121	50	9289											
ZNF280D	54816	genome.wustl.edu	37	15	56961080	56961080	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:56961080G>C	ENST00000267807.7	-	14	1702	c.1486C>G	c.(1486-1488)Caa>Gaa	p.Q496E	ZNF280D_ENST00000559000.1_Missense_Mutation_p.Q483E|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Q200E|ZNF280D_ENST00000559237.1_Missense_Mutation_p.Q483E	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CGATGGTGTTGAGTCTTATGA	0.313																																																0			15											156	146	150					15																	56961080		2192	4292	6484	54748372	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1486C>G	15.37:g.56961080G>C	ENSP00000267807:p.Gln496Glu		54748372	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785344	0.49997	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03212	4.01;4.5	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.222157	0.22320	U	0.061620	T	0.06600	0.0169	L	0.45698	1.435	0.41103	D	0.98568	B;B	0.29432	0.244;0.209	B;B	0.32393	0.145;0.145	T	0.34976	-0.9807	10	0.44086	T	0.13	-7.8107	18.1698	0.89742	0.0:0.0:1.0:0.0	.	559;496	B4DHL1;Q6N043	.;Z280D_HUMAN	E	496;483;200	ENSP00000267807:Q496E;ENSP00000379545:Q200E	ENSP00000267807:Q496E	Q	-	1	0	ZNF280D	54748372	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.515000	0.81761	2.528000	0.85240	0.650000	0.86243	CAA		0.313	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		C	56961080	G	C	56961080	3	2	165	1	0	0	0	0	1	0	0	0	17817	1299	45	3	1489	3	ZNF280D	15	56961080	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	2655809	56961080	45570312	51	9290											
MAN2A2	4122	genome.wustl.edu	37	15	91463013	91463013	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:91463013G>T	ENST00000559717.1	+	23	3908	c.3449G>T	c.(3448-3450)gGt>gTt	p.G1150V	MAN2A2_ENST00000431652.2_Missense_Mutation_p.G658V|MAN2A2_ENST00000430376.2_Missense_Mutation_p.G340V|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000360468.3_Missense_Mutation_p.G1150V			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1150					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCCGCTTGGGTTAGGGCTTC	0.527																																																0			15											130	110	117					15																	91463013		2198	4298	6496	89264017	SO:0001583	missense	4122			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3449G>T	15.37:g.91463013G>T	ENSP00000452948:p.Gly1150Val		89264017	A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586295	0.46110	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	T;D;D	0.94046	-1.25;-1.79;-3.34	5.24	4.3	0.51218	Glycoside hydrolase-type carbohydrate-binding (1);	0.256729	0.41294	N	0.000907	D	0.88702	0.6508	L	0.28274	0.84	0.58432	D	0.999996	P;B;B	0.38788	0.647;0.136;0.136	B;B;B	0.38378	0.272;0.033;0.074	D	0.88992	0.3415	10	0.66056	D	0.02	-6.7698	13.8834	0.63693	0.0:0.0:0.723:0.2769	.	658;778;1150	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	V	1150;658;340	ENSP00000353655:G1150V;ENSP00000388221:G658V;ENSP00000394372:G340V	ENSP00000353655:G1150V	G	+	2	0	MAN2A2	89264017	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	3.663000	0.54518	1.323000	0.45263	0.555000	0.69702	GGT		0.527	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		T	91463013	G	T	91463013	3	4	165	1	0	0	0	0	1	0	0	0	9215	1261	44	3	3535	3	MAN2A2	15	91463013	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	34501933	91463013	11068379	52	9291											
KATNB1	10300	genome.wustl.edu	37	16	57771184	57771184	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr16:57771184C>A	ENST00000379661.3	+	2	421	c.29C>A	c.(28-30)gCc>gAc	p.A10D		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				ACCAAGACAGCCTGGAAGTTG	0.527																																																0			16											182	135	151					16																	57771184		2198	4300	6498	56328685	SO:0001583	missense	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.29C>A	16.37:g.57771184C>A	ENSP00000368982:p.Ala10Asp		56328685		Missense_Mutation	SNP	ENST00000379661.3	37	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	c	17.71	3.457848	0.63401	.	.	ENSG00000140854	ENST00000379661	T	0.56103	0.48	4.97	4.97	0.65823	.	0.195446	0.45361	D	0.000361	T	0.43500	0.1250	L	0.42245	1.32	0.42780	D	0.993868	B	0.33694	0.421	B	0.22753	0.041	T	0.51020	-0.8758	10	0.72032	D	0.01	-0.0593	15.0221	0.71637	0.0:1.0:0.0:0.0	.	10	Q9BVA0	KTNB1_HUMAN	D	10	ENSP00000368982:A10D	ENSP00000368982:A10D	A	+	2	0	KATNB1	56328685	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.180000	0.65048	2.308000	0.77769	0.558000	0.71614	GCC		0.527	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			A	57771184	C	A	57771184	3	1	165	1	0	0	0	0	1	0	0	0	7987	739	26	3	31	3	KATNB1	16	57771184	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09		57771184	32583569	53	9292											
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	165	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09		7578406	73616804	54	9293											
KIF19	124602	genome.wustl.edu	37	17	72350990	72350990	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr17:72350990G>A	ENST00000389916.4	+	19	2914	c.2776G>A	c.(2776-2778)Gtg>Atg	p.V926M	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	926					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGGATGCCAGTGTGCAGGCA	0.612																																																0			17											29	32	31					17																	72350990		1999	4122	6121	69862585	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2776G>A	17.37:g.72350990G>A	ENSP00000374566:p.Val926Met		69862585	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743832	0.15642	.	.	ENSG00000196169	ENST00000389916	T	0.72051	-0.62	4.77	3.79	0.43588	.	.	.	.	.	T	0.60366	0.2263	L	0.36672	1.1	0.09310	N	1	B	0.29805	0.257	B	0.35353	0.201	T	0.50189	-0.8857	9	0.31617	T	0.26	.	7.3291	0.26571	0.089:0.0:0.7469:0.164	.	926	Q2TAC6	KIF19_HUMAN	M	926	ENSP00000374566:V926M	ENSP00000374566:V926M	V	+	1	0	KIF19	69862585	0.146000	0.22672	0.074000	0.20217	0.126000	0.20510	0.618000	0.24373	2.214000	0.71695	0.306000	0.20318	GTG		0.612	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72350990	G	A	72350990	3	1	165	1	0	0	0	0	1	0	0	0	8282	1029	36	2	2850	2	KIF19	17	72350990	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	64772584	72350990	8844220	55	9294											
INSR	3643	genome.wustl.edu	37	19	7163164	7163164	+	Silent	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr19:7163164G>C	ENST00000302850.5	-	9	2050	c.1908C>G	c.(1906-1908)tcC>tcG	p.S636S	AC010311.1_ENST00000581768.1_RNA|INSR_ENST00000341500.5_Silent_p.S636S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	636	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GAATAATCTGGGATGATGAGT	0.517																																																0			19											160	165	163					19																	7163164		2203	4300	6503	7114164	SO:0001819	synonymous_variant	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1908C>G	19.37:g.7163164G>C			7114164	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																				0.517	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			C	7163164	G	C	7163164	2	2	165	1	0	0	0	0	0	0	0	1	7773	1219	43	3		3	INSR	19	7163164	Silent	SNP	G	TCGA-20-1685-01A-01W-0633-09		7163164	51965819	56	9295											
ARHGAP33	115703	genome.wustl.edu	37	19	36278456	36278456	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr19:36278456G>C	ENST00000007510.4	+	21	3133	c.2989G>C	c.(2989-2991)Gcc>Ccc	p.A997P	AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A861P|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A836P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	997					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCGAGGCCCTGCCCAGGTCAG	0.677																																																0			19											15	19	17					19																	36278456		2189	4264	6453	40970296	SO:0001583	missense	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2989G>C	19.37:g.36278456G>C	ENSP00000007510:p.Ala997Pro		40970296	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	G	7.169	0.587240	0.13812	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.12774	3.07;2.65;3.09	4.77	-4.93	0.03066	.	1.211620	0.06001	N	0.647779	T	0.12518	0.0304	N	0.14661	0.345	0.09310	N	1	B;B;D	0.69078	0.037;0.062;0.997	B;B;P	0.62184	0.043;0.059;0.899	T	0.14811	-1.0459	10	0.21540	T	0.41	.	3.7774	0.08667	0.3608:0.0:0.2508:0.3884	.	997;861;836	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	P	997;836;861	ENSP00000007510:A997P;ENSP00000320038:A836P;ENSP00000368227:A861P	ENSP00000007510:A997P	A	+	1	0	ARHGAP33	40970296	0.000000	0.05858	0.185000	0.23176	0.862000	0.49288	-1.356000	0.02609	-0.964000	0.03595	-0.448000	0.05591	GCC		0.677	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		C	36278456	G	C	36278456	3	2	165	1	0	0	0	0	1	0	0	0	882	1319	46	3	3071	3	ARHGAP33	19	36278456	Missense_Mutation	SNP	G	TCGA-20-1685-01A-01W-0633-09	29115292	36278456	22850527	57	9296											
ESF1	51575	genome.wustl.edu	37	20	13763219	13763219	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr20:13763219A>T	ENST00000202816.1	-	2	675	c.568T>A	c.(568-570)Tca>Aca	p.S190T	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GAGGTGCCTGAGTCTAATGTC	0.348																																																0			20											64	64	64					20																	13763219		2203	4300	6503	13711219	SO:0001583	missense	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.568T>A	20.37:g.13763219A>T	ENSP00000202816:p.Ser190Thr		13711219	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	A	0.353	-0.943839	0.02322	.	.	ENSG00000089048	ENST00000202816	T	0.22539	1.95	5.21	0.39	0.16275	.	0.725861	0.12263	N	0.484506	T	0.09686	0.0238	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35919	-0.9769	10	0.13853	T	0.58	.	1.6589	0.02787	0.4146:0.1386:0.3123:0.1345	.	190	Q9H501	ESF1_HUMAN	T	190	ENSP00000202816:S190T	ENSP00000202816:S190T	S	-	1	0	ESF1	13711219	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	-0.657000	0.05335	0.275000	0.22094	0.443000	0.29094	TCA		0.348	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		T	13763219	A	T	13763219	3	4	165	1	0	0	0	0	1	0	0	0	5251	304	11	5	2039	5	ESF1	20	13763219	Missense_Mutation	SNP	A	TCGA-20-1685-01A-01W-0633-09		13763219	49262301	58	9297											
KRTAP13-4	284827	genome.wustl.edu	37	21	31803040	31803040	+	Silent	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr21:31803040A>G	ENST00000334068.2	+	1	469	c.447A>G	c.(445-447)ccA>ccG	p.P149P		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	149						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GTTACAGACCAATCTGTGGAT	0.428																																					NSCLC(196;2401 3038 18004 35753)											0			21											98	98	98					21																	31803040		2203	4300	6503	30724911	SO:0001819	synonymous_variant	284827			AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.447A>G	21.37:g.31803040A>G			30724911	A2RRL3	Silent	SNP	ENST00000334068.2	37	CCDS13592.1																																																																																				0.428	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			G	31803040	A	G	31803040	2	3	165	1	0	0	0	0	0	0	0	1	8525	117	5	4		4	KRTAP13-4	21	31803040	Silent	SNP	A	TCGA-20-1685-01A-01W-0633-09		31803040	16326855	59	9298											
DEPDC5	9681	genome.wustl.edu	37	22	32218713	32218713	+	Missense_Mutation	SNP	T	T	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr22:32218713T>G	ENST00000382112.3	+	23	2111	c.2041T>G	c.(2041-2043)Tcc>Gcc	p.S681A	DEPDC5_ENST00000400246.1_Missense_Mutation_p.S681A|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S681A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S681A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S681A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S681A|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000382105.2_Intron	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	681					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGACGGCATGTCCTTCTTGAA	0.507																																																0			22											75	74	74					22																	32218713		1982	4172	6154	30548713	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2041T>G	22.37:g.32218713T>G	ENSP00000371546:p.Ser681Ala		30548713	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.12|14.12	2.441722|2.441722	0.43326|0.43326	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.24538|.	1.93;1.85;1.92;1.85;1.92;1.85|.	5.09|5.09	4.06|4.06	0.47325|0.47325	.|.	0.095481|.	0.64402|.	D|.	0.000008|.	T|T	0.54431|0.54431	0.1858|0.1858	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.27013|.	0.166;0.16;0.023;0.13;0.13|.	B;B;B;B;B|.	0.30572|.	0.117;0.046;0.01;0.023;0.033|.	T|T	0.48007|0.48007	-0.9072|-0.9072	10|5	0.22706|.	T|.	0.39|.	.|.	8.8341|8.8341	0.35102|0.35102	0.0:0.0869:0.0:0.9131|0.0:0.0869:0.0:0.9131	.|.	2;681;681;681;681|.	B4DSS1;B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;.;DEPD5_HUMAN|.	A|G	681|78	ENSP00000266091:S681A;ENSP00000383108:S681A;ENSP00000383105:S681A;ENSP00000371546:S681A;ENSP00000371545:S681A;ENSP00000383107:S681A|.	ENSP00000266091:S681A|.	S|V	+|+	1|2	0|0	DEPDC5|DEPDC5	30548713|30548713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.335000|2.335000	0.43929|0.43929	0.883000|0.883000	0.36040|0.36040	-0.376000|-0.376000	0.06991|0.06991	TCC|GTC		0.507	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		G	32218713	T	G	32218713	3	3	165	1	0	0	0	0	1	0	0	0	4442	1667	58	5	2149	5	DEPDC5	22	32218713	Missense_Mutation	SNP	T	TCGA-20-1685-01A-01W-0633-09		32218713	19085853	60	9299											
SLC9A6	10479	genome.wustl.edu	37	X	135092657	135092657	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chrX:135092657C>T	ENST00000370698.3	+	7	895	c.860C>T	c.(859-861)gCg>gTg	p.A287V	SLC9A6_ENST00000370701.1_Missense_Mutation_p.A267V|SLC9A6_ENST00000370695.4_Missense_Mutation_p.A319V	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	287					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GATGTCACAGCGATGTTCAAG	0.428																																																0			X											209	164	179					X																	135092657		2203	4300	6503	134920323	SO:0001583	missense	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.860C>T	X.37:g.135092657C>T	ENSP00000359732:p.Ala287Val		134920323	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210701	0.79240	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.15603	2.41;2.41;2.41	5.49	5.49	0.81192	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.23846	0.0577	L	0.39467	1.215	0.80722	D	1	P;P;P	0.52577	0.905;0.884;0.954	B;B;P	0.48552	0.33;0.149;0.581	T	0.00842	-1.1544	10	0.87932	D	0	.	17.2696	0.87097	0.0:1.0:0.0:0.0	.	267;319;287	B4DU30;Q92581-2;Q92581	.;.;SL9A6_HUMAN	V	267;287;319	ENSP00000359735:A267V;ENSP00000359732:A287V;ENSP00000359729:A319V	ENSP00000359729:A319V	A	+	2	0	SLC9A6	134920323	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.487000	0.81328	2.290000	0.77057	0.513000	0.50165	GCG		0.428	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		T	135092657	C	T	135092657	3	4	165	1	0	0	0	0	1	0	0	0	14721	768	27	1	982	1	SLC9A6	23	135092657	Missense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09		135092657	20177903	61	9300											
ATP11C	286410	genome.wustl.edu	37	X	138869372	138869372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chrX:138869372C>A	ENST00000327569.3	-	15	1659	c.1561G>T	c.(1561-1563)Gga>Tga	p.G521*	ATP11C_ENST00000359686.2_Nonsense_Mutation_p.G521*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.G521*|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.G521*|ATP11C_ENST00000370557.1_Nonsense_Mutation_p.G518*	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	521					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTCATATATCCATTTCGATTT	0.284																																																0			X											111	89	96					X																	138869372		2201	4299	6500	138697038	SO:0001587	stop_gained	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1561G>T	X.37:g.138869372C>A	ENSP00000332756:p.Gly521*		138697038	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	38	6.947059	0.97956	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.	.	.	5.76	3.78	0.43462	.	0.373017	0.30850	N	0.008743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	3.1703	0.06550	0.1478:0.5578:0.141:0.1535	.	.	.	.	X	518;521;521;521;521	.	ENSP00000332756:G521X	G	-	1	0	ATP11C	138697038	0.985000	0.35326	0.970000	0.41538	0.877000	0.50540	0.599000	0.24089	2.422000	0.82143	0.594000	0.82650	GGA		0.284	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		A	138869372	C	A	138869372	4	1	165	1	0	0	0	0	0	1	0	0	1121	603	21	3	1964	3	ATP11C	23	138869372	Nonsense_Mutation	SNP	C	TCGA-20-1685-01A-01W-0633-09	3776715	138869372	16401188	62	9301											
KIAA2013	90231	genome.wustl.edu	37	1	11983402	11983402	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:11983402G>A	ENST00000376572.3	-	2	1363	c.1178C>T	c.(1177-1179)aCg>aTg	p.T393M	KIAA2013_ENST00000376576.3_Missense_Mutation_p.T393M	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	393						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGTTGAGCGTCGACTCCAT	0.632																																																0			1											69	58	62					1																	11983402		2203	4300	6503	11905989	SO:0001583	missense	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1178C>T	1.37:g.11983402G>A	ENSP00000365756:p.Thr393Met		11905989	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	CCDS141.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134018	0.37630	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.52	3.53	0.40419	.	0.173478	0.45867	D	0.000339	T	0.38772	0.1053	N	0.22421	0.69	0.37975	D	0.933404	D;D	0.65815	0.994;0.995	P;P	0.51701	0.642;0.677	T	0.36696	-0.9737	9	0.45353	T	0.12	-0.3727	6.1479	0.20296	0.1694:0.2327:0.598:0.0	.	393;393	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	M	393	.	ENSP00000365756:T393M	T	-	2	0	KIAA2013	11905989	0.974000	0.33945	0.991000	0.47740	0.220000	0.24768	1.897000	0.39799	1.484000	0.48361	-0.142000	0.14014	ACG		0.632	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		A	11983402	G	A	11983402	3	1	166	1	0	0	0	0	1	0	0	0	8267	1145	40	1	734	1	KIAA2013	1	11983402	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09		11983402	237267219	1	9302											
PADI1	29943	genome.wustl.edu	37	1	17555197	17555197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:17555197G>T	ENST00000375471.4	+	7	822	c.730G>T	c.(730-732)Gag>Tag	p.E244*		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	244					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACAGCCAGGGGAGCAGGAGAT	0.582																																					Esophageal Squamous(80;414 1257 4580 27746 50832)											0			1											145	150	148					1																	17555197		2203	4300	6503	17427784	SO:0001587	stop_gained	29943			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.730G>T	1.37:g.17555197G>T	ENSP00000364620:p.Glu244*		17427784	A1L4K6|Q70SX6	Nonsense_Mutation	SNP	ENST00000375471.4	37	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377416	0.61735	.	.	ENSG00000142623	ENST00000375471	.	.	.	4.97	4.97	0.65823	.	0.402640	0.26397	N	0.024612	.	.	.	.	.	.	0.34435	D	0.698933	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-39.469	10.4546	0.44542	0.0909:0.0:0.9091:0.0	.	.	.	.	X	244	.	ENSP00000364620:E244X	E	+	1	0	PADI1	17427784	0.001000	0.12720	0.921000	0.36526	0.011000	0.07611	1.117000	0.31234	2.293000	0.77203	0.561000	0.74099	GAG		0.582	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		T	17555197	G	T	17555197	4	4	166	1	0	0	0	0	0	1	0	0	11377	1175	41	3	756	3	PADI1	1	17555197	Nonsense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	5571795	17555197	231695424	2	9303											
CSMD2	114784	genome.wustl.edu	37	1	34554715	34554715	+	Silent	SNP	G	G	A	rs370850896		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:34554715G>A	ENST00000373381.4	-	2	443	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	49	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCAGTTGGCGTAATTGGGGT	0.552																																																0			1						G		1,4405	2.1+/-5.4	0,1,2202	106	87	93		147	-10	0.7	1		93	0,8600		0,0,4300	no	coding-synonymous	CSMD2	NM_052896.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		49/3488	34554715	1,13005	2203	4300	6503	34327302	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.267C>T	1.37:g.34554715G>A			34327302	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.552	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	34554715	G	A	34554715	2	1	166	1	0	0	0	0	0	0	0	1	3945	1140	40	1		1	CSMD2	1	34554715	Silent	SNP	G	TCGA-20-1686-01A-01W-0633-09	16999518	34554715	214695906	3	9304											
C1orf87	127795	genome.wustl.edu	37	1	60466829	60466829	+	Splice_Site	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:60466829C>G	ENST00000371201.3	-	10	1300		c.e10-1		C1orf87_ENST00000395552.1_Splice_Site|C1orf87_ENST00000450089.2_Splice_Site|C1orf87_ENST00000486478.1_Splice_Site	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87								calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCATTCTTCCCTGAACAAGAA	0.398																																					NSCLC(75;811 1386 4923 13371 51772)											0			1											51	49	49					1																	60466829		2203	4300	6503	60239417	SO:0001630	splice_region_variant	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1193-1G>C	1.37:g.60466829C>G			60239417	Q6ZU07|Q8IVS0	Splice_Site	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365381	0.41902	.	.	ENSG00000162598	ENST00000371201;ENST00000395552;ENST00000450089	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1695	0.65500	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf87	60239417	0.981000	0.34729	0.966000	0.40874	0.089000	0.18198	3.296000	0.51802	2.802000	0.96397	0.655000	0.94253	.		0.398	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	Intron	G	60466829	C	G	60466829	5	3	166	1	0	0	0	0	0	0	1	0	2064	695	24	3	460	3	C1orf87	1	60466829	Splice_Site	SNP	C	TCGA-20-1686-01A-01W-0633-09	25912114	60466829	188783792	4	9305											
ADAMTSL4	54507	genome.wustl.edu	37	1	150532625	150532625	+	Missense_Mutation	SNP	C	C	T	rs145169593	byFrequency	TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:150532625C>T	ENST00000369038.2	+	17	3379	c.3178C>T	c.(3178-3180)Cgc>Tgc	p.R1060C	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R1060C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R1083C|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1060	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACCTGTTGCCGCTCTTGCGC	0.607											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											119	102	107					1																	150532625		2203	4300	6503	148799249	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.3178C>T	1.37:g.150532625C>T	ENSP00000358034:p.Arg1060Cys	1733	148799249	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044477	0.75732	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.50813	0.73;0.73;0.73	5.26	5.26	0.73747	PLAC (2);	.	.	.	.	T	0.48409	0.1498	L	0.42245	1.32	0.52501	D	0.999951	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74023	0.982;0.962;0.973	T	0.51608	-0.8684	9	0.54805	T	0.06	.	9.8983	0.41331	0.0:0.9072:0.0:0.0928	.	1021;1083;1060	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	C	1060;1083;1060	ENSP00000271643:R1060C;ENSP00000358035:R1083C;ENSP00000358034:R1060C	ENSP00000271643:R1060C	R	+	1	0	ADAMTSL4	148799249	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.049000	0.57397	2.456000	0.83038	0.561000	0.74099	CGC		0.607	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		T	150532625	C	T	150532625	3	4	166	1	0	0	0	0	1	0	0	0	277	652	23	1	3319	1	ADAMTSL4	1	150532625	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	90065796	150532625	98717996	5	9306											
UBE2Q1	55585	genome.wustl.edu	37	1	154523967	154523967	+	Splice_Site	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:154523967C>T	ENST00000292211.4	-	11	1155	c.1076G>A	c.(1075-1077)gGc>gAc	p.G359D	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	359					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTGCTCCAGCCCTGGGTGAA	0.547																																																0			1											119	104	109					1																	154523967		2203	4300	6503	152790591	SO:0001630	splice_region_variant	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1075-1G>A	1.37:g.154523967C>T			152790591	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136946	0.94517	.	.	ENSG00000160714	ENST00000292211	T	0.35973	1.28	5.3	5.3	0.74995	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.052927	0.85682	D	0.000000	T	0.54271	0.1848	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.56703	-0.7935	10	0.87932	D	0	-11.8142	17.7118	0.88324	0.0:1.0:0.0:0.0	.	359	Q7Z7E8	UB2Q1_HUMAN	D	359	ENSP00000292211:G359D	ENSP00000292211:G359D	G	-	2	0	UBE2Q1	152790591	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.461000	0.80834	2.763000	0.94921	0.561000	0.74099	GGC		0.547	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582	Missense_Mutation	T	154523967	C	T	154523967	5	4	166	1	0	0	0	0	0	0	1	0	16869	753	26	2	204	2	UBE2Q1	1	154523967	Splice_Site	SNP	C	TCGA-20-1686-01A-01W-0633-09	3991342	154523967	94726654	6	9307											
DAP3	7818	genome.wustl.edu	37	1	155697476	155697476	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:155697476G>T	ENST00000368336.5	+	7	674	c.550G>T	c.(550-552)Gct>Tct	p.A184S	DAP3_ENST00000535183.1_Missense_Mutation_p.A143S|DAP3_ENST00000343043.3_Missense_Mutation_p.A184S|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.A143S|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.A150S	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	184					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACCTTTAGAGGCTTCAACCTG	0.433																																																0			1											102	100	101					1																	155697476		2203	4300	6503	153964100	SO:0001583	missense	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.550G>T	1.37:g.155697476G>T	ENSP00000357320:p.Ala184Ser		153964100	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939875	0.92526	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.49432	0.99;0.99;0.78;1.02	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.67517	2.055	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.995	D;D;D;D	0.68943	0.936;0.961;0.961;0.961	T	0.59685	-0.7408	10	0.48119	T	0.1	-13.8922	18.6271	0.91344	0.0:0.0:1.0:0.0	.	143;150;150;184	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	S	184;184;150;143	ENSP00000357320:A184S;ENSP00000341692:A184S;ENSP00000412605:A150S;ENSP00000445003:A143S	ENSP00000341692:A184S	A	+	1	0	DAP3	153964100	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.306000	0.89962	2.717000	0.92951	0.585000	0.79938	GCT		0.433	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		T	155697476	G	T	155697476	3	4	166	1	0	0	0	0	1	0	0	0	4234	1203	42	3	572	3	DAP3	1	155697476	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	1173509	155697476	93553145	7	9308											
ASPM	259266	genome.wustl.edu	37	1	197073225	197073225	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:197073225G>A	ENST00000367409.4	-	18	5412	c.5156C>T	c.(5155-5157)gCa>gTa	p.A1719V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1719					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCTCTTTTGTGCAGCTATTTT	0.378																																																0			1											110	111	111					1																	197073225		2203	4298	6501	195339848	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5156C>T	1.37:g.197073225G>A	ENSP00000356379:p.Ala1719Val		195339848	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	8.748	0.920670	0.17982	.	.	ENSG00000066279	ENST00000367409	T	0.60299	0.2	5.88	0.777	0.18538	.	1.347150	0.04476	N	0.376985	T	0.44180	0.1281	L	0.41824	1.3	0.09310	N	1	B	0.28900	0.227	B	0.24006	0.05	T	0.17531	-1.0366	10	0.28530	T	0.3	.	3.2302	0.06746	0.4098:0.0:0.2864:0.3039	.	1719	Q8IZT6	ASPM_HUMAN	V	1719	ENSP00000356379:A1719V	ENSP00000356379:A1719V	A	-	2	0	ASPM	195339848	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	0.811000	0.27198	0.102000	0.17638	0.585000	0.79938	GCA		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197073225	G	A	197073225	3	1	166	1	0	0	0	0	1	0	0	0	1056	1319	46	2	5321	2	ASPM	1	197073225	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	41375749	197073225	52177396	8	9309											
CRB1	23418	genome.wustl.edu	37	1	197407783	197407783	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:197407783C>G	ENST00000367400.3	+	10	3991	c.3856C>G	c.(3856-3858)Cgg>Ggg	p.R1286G	CRB1_ENST00000535699.1_Missense_Mutation_p.R1262G|CRB1_ENST00000367399.2_Missense_Mutation_p.R1174G|CRB1_ENST00000367397.1_Missense_Mutation_p.R667G|CRB1_ENST00000544212.1_Missense_Mutation_p.R767G|CRB1_ENST00000538660.1_Missense_Mutation_p.R750G|RP11-75C23.1_ENST00000422250.1_RNA	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1286	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGTATGTGCCGGCCAGGTTT	0.428																																																0			1											93	95	94					1																	197407783		2203	4300	6503	195674406	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3856C>G	1.37:g.197407783C>G	ENSP00000356370:p.Arg1286Gly		195674406	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	0.563	-0.844226	0.02671	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.06	5.63	-7.08	0.01558	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.78233	0.4251	L	0.56396	1.775	0.09310	N	0.999996	B;B;P;B;B	0.35272	0.0;0.001;0.493;0.0;0.006	B;B;B;B;B	0.36244	0.002;0.004;0.22;0.002;0.005	T	0.65660	-0.6114	9	0.23891	T	0.37	.	2.8243	0.05481	0.0894:0.3159:0.2044:0.3903	.	750;1262;1174;935;1286	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	G	1262;750;1286;1174;767;667;935	ENSP00000438786:R1262G;ENSP00000438091:R750G;ENSP00000356370:R1286G;ENSP00000356369:R1174G;ENSP00000444556:R767G;ENSP00000356367:R667G	ENSP00000356367:R667G	R	+	1	2	CRB1	195674406	0.027000	0.19231	0.004000	0.12327	0.001000	0.01503	0.139000	0.16036	-1.122000	0.02945	-1.813000	0.00610	CGG		0.428	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		G	197407783	C	G	197407783	3	3	166	1	0	0	0	0	1	0	0	0	3848	643	23	3	3894	3	CRB1	1	197407783	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	334558	197407783	51842838	9	9310											
SIPA1L2	57568	genome.wustl.edu	37	1	232619639	232619639	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:232619639T>C	ENST00000366630.1	-	5	2238	c.1880A>G	c.(1879-1881)aAt>aGt	p.N627S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.N627S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	627	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGCCGTCTCATTGTTATACAT	0.443																																																0			1											109	106	107					1																	232619639		1922	4159	6081	230686262	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1880A>G	1.37:g.232619639T>C	ENSP00000355589:p.Asn627Ser		230686262	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701787	0.88924	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.98105	-4.72;-4.72	5.65	5.65	0.86999	Rap/ran-GAP (2);	0.094171	0.64402	D	0.000001	D	0.99061	0.9678	H	0.94734	3.575	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.99482	1.0948	10	0.87932	D	0	-43.6967	16.0399	0.80667	0.0:0.0:0.0:1.0	.	627	Q9P2F8	SI1L2_HUMAN	S	627	ENSP00000355589:N627S;ENSP00000262861:N627S	ENSP00000262861:N627S	N	-	2	0	SIPA1L2	230686262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	AAT		0.443	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		C	232619639	T	C	232619639	3	2	166	1	0	0	0	0	1	0	0	0	14333	1493	52	4	3360	4	SIPA1L2	1	232619639	Missense_Mutation	SNP	T	TCGA-20-1686-01A-01W-0633-09	35211856	232619639	16630982	10	9311											
OTOF	9381	genome.wustl.edu	37	2	26697480	26697480	+	Silent	SNP	C	C	T	rs80356573	byFrequency	TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:26697480C>T	ENST00000272371.2	-	26	3315	c.3189G>A	c.(3187-3189)gcG>gcA	p.A1063A	OTOF_ENST00000338581.6_Silent_p.A316A|OTOF_ENST00000403946.3_Silent_p.A1063A|OTOF_ENST00000339598.3_Silent_p.A316A|OTOF_ENST00000402415.3_Silent_p.A373A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1063					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGGCAGTACGCCTCGTCTG	0.617													c|||	35	0.00698882	0.0061	0.013	5008	,	,		13284	0		0.0159	False		,,,				2504	0.002				GBM(102;732 1451 20652 24062 31372)											0			2							,,,	48,4358	50.2+/-85.5	0,48,2155	95	81	85	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	948,3189,1119,948	-11.2	0	2	dbSNP_131	85	200,8398	86.1+/-148.5	3,194,4102	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,,	3,242,6257	TT,TC,CC		2.3261,1.0894,1.9071	,,,	316/1231,1063/1998,373/1308,316/1231	26697480	248,12756	2203	4299	6502	26550984	SO:0001819	synonymous_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3189G>A	2.37:g.26697480C>T			26550984	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																				0.617	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26697480	C	T	26697480	2	4	166	1	0	0	0	0	0	0	0	1	11303	523	19	1		1	OTOF	2	26697480	Silent	SNP	C	TCGA-20-1686-01A-01W-0633-09		26697480	216501893	11	9312											
ZNF638	27332	genome.wustl.edu	37	2	71653614	71653614	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:71653614G>C	ENST00000409544.1	+	24	5245	c.4615G>C	c.(4615-4617)Gat>Cat	p.D1539H	ZNF638_ENST00000409407.1_Missense_Mutation_p.D479H|ZNF638_ENST00000355812.3_Missense_Mutation_p.W1130C|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1539H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1539					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATTTAATTTGGATGAATTTGT	0.333																																																0			2											63	65	64					2																	71653614		2203	4300	6503	71507122	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4615G>C	2.37:g.71653614G>C	ENSP00000386433:p.Asp1539His		71507122	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.500735|3.500735	0.64298|0.64298	.|.	.|.	ENSG00000075292|ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695|ENST00000355812	T;T;T|T	0.49139|0.56275	0.79;0.79;1.13|0.47	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.51477|.	D|.	0.000082|.	T|T	0.62295|0.62295	0.2416|0.2416	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.89917	1.0;1.0|1.0	D;D|D	0.91635|0.87578	0.999;0.997|0.998	T|T	0.65994|0.65994	-0.6033|-0.6033	10|9	0.48119|0.87932	T|D	0.1|0	-14.6779|-14.6779	16.9498|16.9498	0.86242|0.86242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1539;1539|1130	Q14966-3;Q14966|Q14966-4	.;ZN638_HUMAN|.	H|C	1539;1539;479;479|1130	ENSP00000264447:D1539H;ENSP00000386433:D1539H;ENSP00000386813:D479H|ENSP00000348066:W1130C	ENSP00000264447:D1539H|ENSP00000348066:W1130C	D|W	+|+	1|3	0|0	ZNF638|ZNF638	71507122|71507122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.580000|5.580000	0.67464|0.67464	2.594000|2.594000	0.87642|0.87642	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.333	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		C	71653614	G	C	71653614	3	2	166	1	0	0	0	0	1	0	0	0	18055	1174	41	3	4705	3	ZNF638	2	71653614	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	44956134	71653614	171545759	12	9313											
LRP1B	53353	genome.wustl.edu	37	2	141294205	141294205	+	Silent	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:141294205G>T	ENST00000389484.3	-	46	8558	c.7587C>A	c.(7585-7587)acC>acA	p.T2529T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2529	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCCATCACAGGTGAGCTGGT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0			2											134	130	132					2																	141294205		2203	4300	6503	141010675	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7587C>A	2.37:g.141294205G>T			141010675	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141294205	G	T	141294205	2	4	166	1	0	0	0	0	0	0	0	1	8955	987	35	3		3	LRP1B	2	141294205	Silent	SNP	G	TCGA-20-1686-01A-01W-0633-09	69640591	141294205	101905168	13	9314											
SGOL2	151246	genome.wustl.edu	37	2	201399859	201399859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:201399859G>T	ENST00000357799.4	+	3	372	c.274G>T	c.(274-276)Gag>Tag	p.E92*	SGOL2_ENST00000409203.3_Nonsense_Mutation_p.E92*	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	92					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ACTGAATTTTGAGAACACATT	0.308																																																0			2											79	73	75					2																	201399859		1812	4071	5883	201108104	SO:0001587	stop_gained	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.274G>T	2.37:g.201399859G>T	ENSP00000350447:p.Glu92*		201108104	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Nonsense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947556	0.92593	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	.	.	.	5.61	3.76	0.43208	.	0.120487	0.37623	N	0.002010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.1421	7.4166	0.27048	0.1001:0.2937:0.6062:0.0	.	.	.	.	X	92	.	ENSP00000350447:E92X	E	+	1	0	SGOL2	201108104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.691000	0.37721	1.361000	0.45981	0.655000	0.94253	GAG		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		T	201399859	G	T	201399859	4	4	166	1	0	0	0	0	0	1	0	0	14220	1291	45	3	280	3	SGOL2	2	201399859	Nonsense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	60105654	201399859	41799514	14	9315											
COL4A4	1286	genome.wustl.edu	37	2	227915769	227915769	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:227915769G>C	ENST00000396625.3	-	33	3281	c.3074C>G	c.(3073-3075)cCt>cGt	p.P1025R	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1025R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1025	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGTCCAGGAGGCCCTGGCTG	0.582																																																0			2											97	99	98					2																	227915769		1887	4127	6014	227624013	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3074C>G	2.37:g.227915769G>C	ENSP00000379866:p.Pro1025Arg		227624013	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	g	7.489	0.650263	0.14516	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.95788	-3.81;-3.81	5.32	-2.55	0.06288	.	.	.	.	.	D	0.91932	0.7445	L	0.37630	1.12	0.09310	N	1	P	0.47484	0.896	P	0.52267	0.694	D	0.84554	0.0646	9	0.12103	T	0.63	.	5.2241	0.15385	0.521:0.0:0.3513:0.1277	.	1025	P53420	CO4A4_HUMAN	R	1025	ENSP00000379866:P1025R;ENSP00000328553:P1025R	ENSP00000328553:P1025R	P	-	2	0	COL4A4	227624013	0.001000	0.12720	0.004000	0.12327	0.384000	0.30261	0.120000	0.15647	-0.732000	0.04856	-0.121000	0.15023	CCT		0.582	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		C	227915769	G	C	227915769	3	2	166	1	0	0	0	0	1	0	0	0	3693	1000	35	3	2062	3	COL4A4	2	227915769	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	26515910	227915769	15283604	15	9316											
DHX30	22907	genome.wustl.edu	37	3	47889876	47889876	+	Splice_Site	DEL	G	G	-			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr3:47889876delG	ENST00000445061.1	+	15	2900	c.2493delG	c.(2491-2493)acg>ac	p.T831fs	DHX30_ENST00000348968.4_Splice_Site_p.T803fs|DHX30_ENST00000446256.2_Splice_Site_p.T792fs|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Splice_Site_p.T859fs	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	831						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTGAGAAGACGGTGCGGCGGG	0.642																																																0			3											44	55	51					3																	47889876		2202	4299	6501	47864880	SO:0001630	splice_region_variant	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2493+1G>-	3.37:g.47889876delG			47864880	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Frame_Shift_Del	DEL	ENST00000445061.1	37	CCDS2759.1																																																																																				0.642	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	Frame_Shift_Del	-	47889876	G	-	47889876	8	5	166	1	0	1	0	1	0	0	1	0	4504	1130	39	0	2554	0	DHX30	3	47889876	Splice_Site	DEL	G	TCGA-20-1686-01A-01W-0633-09		47889876	150132554	16	9317											
ARHGAP31	57514	genome.wustl.edu	37	3	119133999	119133999	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr3:119133999G>A	ENST00000264245.4	+	12	3755	c.3223G>A	c.(3223-3225)Gtg>Atg	p.V1075M		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1075					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCACCCAGCGTGCAGGACAG	0.572																																					Pancreas(7;176 297 5394 51128 51241)											0			3											164	178	173					3																	119133999		2125	4247	6372	120616689	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3223G>A	3.37:g.119133999G>A	ENSP00000264245:p.Val1075Met		120616689	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.218044	0.01542	.	.	ENSG00000031081	ENST00000264245	T	0.07021	3.23	5.39	-1.6	0.08426	.	0.971786	0.08423	N	0.947964	T	0.05181	0.0138	N	0.17082	0.46	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.43015	-0.9417	10	0.38643	T	0.18	.	7.2748	0.26277	0.3775:0.0:0.5124:0.11	.	1075	Q2M1Z3	RHG31_HUMAN	M	1075	ENSP00000264245:V1075M	ENSP00000264245:V1075M	V	+	1	0	ARHGAP31	120616689	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	-0.465000	0.06953	-1.170000	0.01741	GTG		0.572	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			A	119133999	G	A	119133999	3	1	166	1	0	0	0	0	1	0	0	0	880	1145	40	1	3269	1	ARHGAP31	3	119133999	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	71244123	119133999	78888431	17	9318											
GYG1	2992	genome.wustl.edu	37	3	148744247	148744247	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr3:148744247C>A	ENST00000345003.4	+	7	1137	c.837C>A	c.(835-837)gaC>gaA	p.D279E	GYG1_ENST00000484197.1_Intron|GYG1_ENST00000296048.6_Intron|GYG1_ENST00000479119.1_Intron	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	279					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCTTTCAGACTTGGTCTATA	0.398																																																0			3											202	193	196					3																	148744247		2202	4300	6502	150226937	SO:0001583	missense	2992			AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4699	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	603942	"glycogenin"	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.837C>A	3.37:g.148744247C>A	ENSP00000340736:p.Asp279Glu		150226937	D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	CCDS3139.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350754	0.24512	.	.	ENSG00000163754	ENST00000345003	T	0.62232	0.04	5.43	4.36	0.52297	.	0.920136	0.09372	N	0.811192	T	0.50582	0.1624	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34304	-0.9834	10	0.02654	T	1	-25.2054	15.0639	0.71977	0.0:0.9199:0.0:0.0801	.	279	P46976	GLYG_HUMAN	E	279	ENSP00000340736:D279E	ENSP00000340736:D279E	D	+	3	2	GYG1	150226937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.403000	0.59729	2.545000	0.85829	0.563000	0.77884	GAC		0.398	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		A	148744247	C	A	148744247	3	1	166	1	0	0	0	0	1	0	0	0	6905	564	20	3	863	3	GYG1	3	148744247	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	29610248	148744247	49278183	18	9319											
CRMP1	1400	genome.wustl.edu	37	4	5868450	5868450	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:5868450T>C	ENST00000397890.2	-	2	287	c.73A>G	c.(73-75)Atc>Gtc	p.I25V	CRMP1_ENST00000512574.1_Missense_Mutation_p.I23V|CRMP1_ENST00000324989.7_Missense_Mutation_p.I139V|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	25					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TCATCGTTGATGATCCGTCCA	0.438																																																0			4											136	116	123					4																	5868450		2203	4300	6503	5919351	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.73A>G	4.37:g.5868450T>C	ENSP00000380987:p.Ile25Val		5919351	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	T	1.703	-0.500974	0.04261	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.81739	-1.51;-1.53;-1.53	3.96	1.51	0.23008	Metal-dependent hydrolase, composite domain (1);	0.285643	0.34411	N	0.003992	T	0.43255	0.1239	N	0.00864	-1.135	0.37057	D	0.89789	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47983	-0.9074	10	0.02654	T	1	-16.7559	6.4947	0.22136	0.0:0.2935:0.0:0.7065	.	139;23;25	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	V	139;25;25;23	ENSP00000321606:I139V;ENSP00000380987:I25V;ENSP00000425742:I23V	ENSP00000321606:I139V	I	-	1	0	CRMP1	5919351	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	2.814000	0.48010	0.139000	0.18822	0.460000	0.39030	ATC		0.438	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		C	5868450	T	C	5868450	3	2	166	1	0	0	0	0	1	0	0	0	3890	1464	51	4	1697	4	CRMP1	4	5868450	Missense_Mutation	SNP	T	TCGA-20-1686-01A-01W-0633-09		5868450	185285826	19	9320											
SLIT2	9353	genome.wustl.edu	37	4	20552454	20552454	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:20552454C>G	ENST00000504154.1	+	25	2746	c.2494C>G	c.(2494-2496)Cta>Gta	p.L832V	SLIT2_ENST00000503823.1_Missense_Mutation_p.L824V|SLIT2_ENST00000273739.5_Missense_Mutation_p.L836V|SLIT2_ENST00000503837.1_Missense_Mutation_p.L828V|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	832					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTTAGTTCTCTACATGGAAA	0.318																																																0			4											143	134	137					4																	20552454		2202	4300	6502	20161552	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2494C>G	4.37:g.20552454C>G	ENSP00000422591:p.Leu832Val		20161552	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736663	0.49045	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.86	-1.35	0.09114	.	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	M	0.84846	2.72	0.80722	D	1	P;B	0.45240	0.854;0.256	B;B	0.43413	0.419;0.308	T	0.79848	-0.1630	10	0.59425	D	0.04	.	13.0004	0.58672	0.0:0.1867:0.0:0.8133	.	824;832	O94813-3;O94813	.;SLIT2_HUMAN	V	824;832;836;828;828;33	ENSP00000427548:L824V;ENSP00000422591:L832V;ENSP00000273739:L836V;ENSP00000422261:L828V;ENSP00000421975:L33V	ENSP00000273739:L836V	L	+	1	2	SLIT2	20161552	0.993000	0.37304	0.858000	0.33744	0.477000	0.33069	1.491000	0.35583	-0.375000	0.07955	-0.157000	0.13467	CTA		0.318	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			G	20552454	C	G	20552454	3	3	166	1	0	0	0	0	1	0	0	0	14743	912	32	3	2592	3	SLIT2	4	20552454	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	14684004	20552454	170601822	20	9321											
GUF1	60558	genome.wustl.edu	37	4	44682807	44682817	+	Frame_Shift_Del	DEL	TCTTTTACAAT	TCTTTTACAAT	-	rs187478991		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	TCTTTTACAAT	TCTTTTACAAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:44682807_44682817delTCTTTTACAAT	ENST00000281543.5	+	3	568_578	c.374_384delTCTTTTACAAT	c.(373-384)ctcttttacaatfs	p.LFYN125fs	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACAGCATCTCTCTTTTACAATTGTGAAGGAA	0.332																																																0			4																																								44377574	SO:0001589	frameshift_variant	60558				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.374_384delTCTTTTACAAT	4.37:g.44682807_44682817delTCTTTTACAAT	ENSP00000281543:p.Leu125fs		44377564		Frame_Shift_Del	DEL	ENST00000281543.5	37	CCDS3468.1																																																																																				0.332	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		-	44682817	TCTTTTACAAT	-	44682807	7	5	166	1	0	1	0	1	0	0	0	0	6899	1551	54	0	384	0	GUF1	4	44682807	Frame_Shift_Del	DEL	TCTTTTACAAT	TCGA-20-1686-01A-01W-0633-09	24130353	44682807	146471469	21	9322											
FRAS1	80144	genome.wustl.edu	37	4	79387503	79387503	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:79387503G>A	ENST00000264895.6	+	50	7611	c.7171G>A	c.(7171-7173)Ggc>Agc	p.G2391S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2391					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.G2391S(3)|p.G2392S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCATGACGGCAGTAACTC	0.527																																																4	Substitution - Missense(4)	central_nervous_system(3)|ovary(1)	4											78	80	79					4																	79387503		2128	4237	6365	79606527	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7171G>A	4.37:g.79387503G>A	ENSP00000264895:p.Gly2391Ser		79606527	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.806409|2.806409	0.50421|0.50421	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.26223|.	1.75|.	5.53|5.53	4.69|4.69	0.59074|0.59074	.|.	0.297141|.	0.36665|.	N|.	0.002479|.	T|T	0.75693|0.75693	0.3884|0.3884	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	P|.	0.45902|.	0.868|.	B|.	0.35655|.	0.207|.	T|T	0.75399|0.75399	-0.3331|-0.3331	10|5	0.62326|.	D|.	0.03|.	.|.	17.8279|17.8279	0.88671|0.88671	0.0652:0.0:0.9348:0.0|0.0652:0.0:0.9348:0.0	.|.	2391|.	E9PHH6|.	.|.	S|Q	2391|619	ENSP00000264895:G2391S|.	ENSP00000264895:G2391S|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79606527|79606527	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.715000|0.715000	0.41141|0.41141	7.713000|7.713000	0.84693|0.84693	0.830000|0.830000	0.34757|0.34757	-1.128000|-1.128000	0.01989|0.01989	GGC|CGG		0.527	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79387503	G	A	79387503	3	1	166	1	0	0	0	0	1	0	0	0	6042	1116	39	1	7444	1	FRAS1	4	79387503	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	34704696	79387503	111766773	22	9323											
ANXA5	308	genome.wustl.edu	37	4	122589673	122589673	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:122589673A>T	ENST00000296511.5	-	13	1198	c.913T>A	c.(913-915)Tct>Act	p.S305T	ANXA5_ENST00000501272.2_Missense_Mutation_p.S245T|ANXA5_ENST00000515017.1_Missense_Mutation_p.S205T	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	305					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TAGTCCCCAGATGTATCTCCC	0.438																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)											0			4											157	137	144					4																	122589673		2203	4300	6503	122809123	SO:0001583	missense	308			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.913T>A	4.37:g.122589673A>T	ENSP00000296511:p.Ser305Thr		122809123	D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407476	0.62399	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	T;T;T	0.05996	3.36;3.36;3.36	5.77	4.59	0.56863	Annexin repeat, conserved site (1);	0.209202	0.50627	D	0.000106	T	0.26919	0.0659	M	0.92026	3.265	0.53688	D	0.999978	P;B;P;B	0.41524	0.687;0.07;0.753;0.07	P;B;P;B	0.55055	0.767;0.058;0.53;0.058	T	0.01884	-1.1254	10	0.87932	D	0	.	11.4446	0.50116	0.9288:0.0:0.0712:0.0	.	205;245;261;305	D6RBE9;D6RBL5;E7ENQ5;P08758	.;.;.;ANXA5_HUMAN	T	305;261;245;205	ENSP00000296511:S305T;ENSP00000424106:S245T;ENSP00000424199:S205T	ENSP00000296511:S305T	S	-	1	0	ANXA5	122809123	0.942000	0.31987	0.821000	0.32701	0.600000	0.36913	1.785000	0.38684	1.010000	0.39314	-0.263000	0.10527	TCT		0.438	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		T	122589673	A	T	122589673	3	4	166	1	0	0	0	0	1	0	0	0	721	333	12	5	53	5	ANXA5	4	122589673	Missense_Mutation	SNP	A	TCGA-20-1686-01A-01W-0633-09	43202170	122589673	68564603	23	9324											
FAT1	2195	genome.wustl.edu	37	4	187510154	187510154	+	Silent	SNP	G	G	T	rs147776400	byFrequency	TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:187510154G>T	ENST00000441802.2	-	27	13568	c.13359C>A	c.(13357-13359)ccC>ccA	p.P4453P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4453					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTGAATTCGGGCGGTAACG	0.527										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0			4											236	239	238					4																	187510154		1945	4135	6080	187747148	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13359C>A	4.37:g.187510154G>T			187747148		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.527	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187510154	G	T	187510154	2	4	166	1	0	0	0	0	0	0	0	1	5689	1103	39	3		3	FAT1	4	187510154	Silent	SNP	G	TCGA-20-1686-01A-01W-0633-09	64920481	187510154	3644122	24	9325											
SEMA5A	9037	genome.wustl.edu	37	5	9043076	9043076	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr5:9043076G>A	ENST00000382496.5	-	23	3823	c.3158C>T	c.(3157-3159)cCa>cTa	p.P1053L	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1053					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGTGAGATGTGGGTTGAAGTA	0.333																																																0			5											216	211	213					5																	9043076		2203	4300	6503	9096076	SO:0001583	missense	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3158C>T	5.37:g.9043076G>A	ENSP00000371936:p.Pro1053Leu		9096076	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001857	0.35320	.	.	ENSG00000112902	ENST00000382496	T	0.36340	1.26	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13791	-1.0496	10	0.16896	T	0.51	.	15.1536	0.72723	0.0:0.0:1.0:0.0	.	1053	Q13591	SEM5A_HUMAN	L	1053	ENSP00000371936:P1053L	ENSP00000371936:P1053L	P	-	2	0	SEMA5A	9096076	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	8.824000	0.92023	2.716000	0.92895	0.655000	0.94253	CCA		0.333	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			A	9043076	G	A	9043076	3	1	166	1	0	0	0	0	1	0	0	0	14040	1348	47	2	70	2	SEMA5A	5	9043076	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09		9043076	171872184	25	9326											
ADAMTS12	81792	genome.wustl.edu	37	5	33683153	33683153	+	Silent	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr5:33683153C>T	ENST00000504830.1	-	5	1220	c.885G>A	c.(883-885)gtG>gtA	p.V295V	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.V295V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGAGCCGAACCACAACAATGT	0.423										HNSCC(64;0.19)																																						0			5											109	99	103					5																	33683153		2203	4300	6503	33718910	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.885G>A	5.37:g.33683153C>T			33718910	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.423	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33683153	C	T	33683153	2	4	166	1	0	0	0	0	0	0	0	1	257	581	21	2		2	ADAMTS12	5	33683153	Silent	SNP	C	TCGA-20-1686-01A-01W-0633-09	24640077	33683153	147232107	26	9327											
NQO2	4835	genome.wustl.edu	37	6	3015829	3015829	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr6:3015829G>A	ENST00000338130.2	+	8	1081	c.369G>A	c.(367-369)caG>caA	p.Q123Q	NQO2_ENST00000380455.4_Silent_p.Q123Q|NQO2_ENST00000380454.4_Intron|NQO2_ENST00000380441.1_Intron|NQO2_ENST00000380430.1_Silent_p.Q123Q			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	123					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	TGCTGTGCCAGGGCTTTGCCT	0.547																																																0			6											114	107	110					6																	3015829		2203	4300	6503	2960828	SO:0001819	synonymous_variant	4835			U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"NAD(P)H menadione oxidoreductase 2, dioxin-inducible"	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.369G>A	6.37:g.3015829G>A			2960828	B2R492|Q5TD04	Silent	SNP	ENST00000338130.2	37	CCDS4481.1																																																																																				0.547	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1			A	3015829	G	A	3015829	2	1	166	1	0	0	0	0	0	0	0	1	10612	991	35	2		2	NQO2	6	3015829	Silent	SNP	G	TCGA-20-1686-01A-01W-0633-09		3015829	168099238	27	9328											
DST	667	genome.wustl.edu	37	6	56417946	56417946	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr6:56417946A>G	ENST00000361203.3	-	57	15018	c.15011T>C	c.(15010-15012)aTg>aCg	p.M5004T	DST_ENST00000370754.5_Missense_Mutation_p.M5184T|DST_ENST00000244364.6_Missense_Mutation_p.M2592T|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.M4680T|DST_ENST00000421834.2_Missense_Mutation_p.M2918T|DST_ENST00000370769.4_Missense_Mutation_p.M5006T|DST_ENST00000370788.2_Missense_Mutation_p.M2918T			Q03001	DYST_HUMAN	dystonin	5004					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGTTGGTCCATTTCCTTCTG	0.383																																																0			6											178	176	176					6																	56417946		1854	4107	5961	56525905	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15011T>C	6.37:g.56417946A>G	ENSP00000354508:p.Met5004Thr		56525905	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	8.377	0.836571	0.16891	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.76	3.21	0.36854	.	0.196730	0.35207	N	0.003373	T	0.21387	0.0515	L	0.57536	1.79	0.23215	N	0.99811	B;B;P;B;B	0.42248	0.156;0.227;0.774;0.01;0.1	B;B;B;B;B	0.42188	0.037;0.119;0.379;0.009;0.122	T	0.06006	-1.0851	9	0.52906	T	0.07	.	9.7009	0.40187	0.7597:0.1228:0.0:0.1174	.	2918;5006;5184;5004;2592	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	2592;5184;5006;2918;4680;2918;5004	ENSP00000244364:M2592T;ENSP00000359790:M5184T;ENSP00000359805:M5006T;ENSP00000400883:M2918T;ENSP00000393645:M4680T;ENSP00000359824:M2918T;ENSP00000354508:M5004T	ENSP00000244364:M2592T	M	-	2	0	DST	56525905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.210000	0.65214	1.102000	0.41551	0.533000	0.62120	ATG		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56417946	A	G	56417946	3	3	166	1	0	0	0	0	1	0	0	0	4783	217	8	4	7912	4	DST	6	56417946	Missense_Mutation	SNP	A	TCGA-20-1686-01A-01W-0633-09	53402117	56417946	114697121	28	9329											
COL19A1	1310	genome.wustl.edu	37	6	70642743	70642743	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr6:70642743A>G	ENST00000322773.4	+	7	837	c.735A>G	c.(733-735)atA>atG	p.I245M		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	245					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTGTGAAATATCAGATACTA	0.318																																																0			6											62	62	62					6																	70642743		2203	4296	6499	70699464	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.735A>G	6.37:g.70642743A>G	ENSP00000316030:p.Ile245Met		70699464	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	6.155	0.396877	0.11638	.	.	ENSG00000082293	ENST00000322773	D	0.92249	-3.0	5.67	0.396	0.16309	.	0.331868	0.31472	N	0.007591	T	0.73225	0.3560	N	0.25332	0.735	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.61959	-0.6955	10	0.37606	T	0.19	.	6.6113	0.22753	0.6312:0.2413:0.1276:0.0	.	245	Q14993	COJA1_HUMAN	M	245	ENSP00000316030:I245M	ENSP00000316030:I245M	I	+	3	3	COL19A1	70699464	1.000000	0.71417	0.005000	0.12908	0.611000	0.37282	0.937000	0.28951	-0.142000	0.11354	-0.280000	0.10049	ATA		0.318	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			G	70642743	A	G	70642743	3	3	166	1	0	0	0	0	1	0	0	0	3676	439	16	4	757	4	COL19A1	6	70642743	Missense_Mutation	SNP	A	TCGA-20-1686-01A-01W-0633-09	14224797	70642743	100472324	29	9330											
FNDC1	84624	genome.wustl.edu	37	6	159636110	159636110	+	Silent	SNP	C	C	T	rs531853879		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr6:159636110C>T	ENST00000297267.9	+	5	794	c.594C>T	c.(592-594)taC>taT	p.Y198Y	FNDC1_ENST00000340366.6_Silent_p.Y198Y	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	198	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCTGGGCTACGGGGAGAGTG	0.512													C|||	1	0.000199681	0	0	5008	,	,		20225	0		0	False		,,,				2504	0.001															0			6											85	88	87					6																	159636110		1944	4144	6088	159556098	SO:0001819	synonymous_variant	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.594C>T	6.37:g.159636110C>T			159556098	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	9.928	1.214074	0.22289	.	.	ENSG00000164694	ENST00000329629	.	.	.	6.17	-4.01	0.04045	.	.	.	.	.	T	0.54382	0.1855	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64630	-0.6362	4	.	.	.	-25.5234	16.5218	0.84319	0.0:0.1832:0.0:0.8168	.	.	.	.	W	157	.	.	R	+	1	2	FNDC1	159556098	0.926000	0.31397	0.997000	0.53966	0.937000	0.57800	-0.262000	0.08682	-0.606000	0.05746	-0.749000	0.03505	CGG		0.512	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		T	159636110	C	T	159636110	2	4	166	1	0	0	0	0	0	0	0	1	5968	547	19	1		1	FNDC1	6	159636110	Silent	SNP	C	TCGA-20-1686-01A-01W-0633-09	88993367	159636110	11478957	30	9331											
C7orf31	136895	genome.wustl.edu	37	7	25176194	25176194	+	Silent	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:25176194A>G	ENST00000409280.1	-	10	1478	c.1170T>C	c.(1168-1170)caT>caC	p.H390H	C7orf31_ENST00000283905.3_Silent_p.H390H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	390										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CCTGGTTTTTATGGGTCACAC	0.393																																																0			7											206	194	198					7																	25176194		2203	4300	6503	25142719	SO:0001819	synonymous_variant	136895			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1170T>C	7.37:g.25176194A>G			25142719	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	ENST00000409280.1	37	CCDS5394.1																																																																																				0.393	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		G	25176194	A	G	25176194	2	3	166	1	0	0	0	0	0	0	0	1	2387	446	16	4		4	C7orf31	7	25176194	Silent	SNP	A	TCGA-20-1686-01A-01W-0633-09		25176194	133962469	31	9332											
CACNA2D1	781	genome.wustl.edu	37	7	81588661	81588661	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:81588661T>C	ENST00000356253.5	-	38	3380	c.3125A>G	c.(3124-3126)aAt>aGt	p.N1042S	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.N1030S|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.N242S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1042					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTCACAAGGATTTGGACCGTC	0.353																																																0			7											111	102	105					7																	81588661		2203	4300	6503	81426597	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3125A>G	7.37:g.81588661T>C	ENSP00000348589:p.Asn1042Ser		81426597	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	T	16.34	3.095867	0.56075	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.64991	-0.13;-0.13;-0.13	5.84	5.84	0.93424	.	0.206118	0.49916	D	0.000126	T	0.59115	0.2170	L	0.46157	1.445	0.32933	D	0.51735	B;B	0.24721	0.11;0.053	B;B	0.33042	0.157;0.138	T	0.63107	-0.6711	10	0.18276	T	0.48	-15.3274	16.2135	0.82186	0.0:0.0:0.0:1.0	.	242;1030	B7Z658;P54289-2	.;.	S	1030;1049;1042;242	ENSP00000349320:N1030S;ENSP00000348589:N1042S;ENSP00000443124:N242S	ENSP00000284088:N1049S	N	-	2	0	CACNA2D1	81426597	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	7.492000	0.81482	2.227000	0.72691	0.460000	0.39030	AAT		0.353	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				C	81588661	T	C	81588661	3	2	166	1	0	0	0	0	1	0	0	0	2548	1493	52	4	194	4	CACNA2D1	7	81588661	Missense_Mutation	SNP	T	TCGA-20-1686-01A-01W-0633-09	56412467	81588661	77550002	32	9333											
MUC17	140453	genome.wustl.edu	37	7	100681050	100681050	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:100681050A>G	ENST00000306151.4	+	3	6417	c.6353A>G	c.(6352-6354)gAg>gGg	p.E2118G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2118	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAGTCCTGAGGCTAGCACC	0.502																																																0			7											216	219	218					7																	100681050		2203	4300	6503	100467770	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6353A>G	7.37:g.100681050A>G	ENSP00000302716:p.Glu2118Gly		100467770	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	1.616	-0.522823	0.04141	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.942	-1.88	0.07713	.	.	.	.	.	T	0.01523	0.0049	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.31686	0.134	T	0.43442	-0.9391	9	0.24483	T	0.36	.	2.2448	0.04029	0.2928:0.2358:0.0:0.4714	.	2118	Q685J3	MUC17_HUMAN	G	2118	ENSP00000302716:E2118G	ENSP00000302716:E2118G	E	+	2	0	MUC17	100467770	0.023000	0.18921	0.000000	0.03702	0.038000	0.13279	1.659000	0.37387	-1.250000	0.02497	0.113000	0.15668	GAG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100681050	A	G	100681050	3	3	166	1	0	0	0	0	1	0	0	0	9974	304	11	4	6363	4	MUC17	7	100681050	Missense_Mutation	SNP	A	TCGA-20-1686-01A-01W-0633-09	19092389	100681050	58457613	33	9334											
DOCK4	9732	genome.wustl.edu	37	7	111418330	111418330	+	Splice_Site	SNP	A	A	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:111418330A>T	ENST00000437633.1	-	35	3909		c.e35+1		DOCK4_ENST00000494651.2_Splice_Site|DOCK4_ENST00000428084.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGACAGAATTACCTGTAAAGT	0.378																																																0			7											136	128	131					7																	111418330		1855	4100	5955	111205566	SO:0001630	splice_region_variant	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3652+1T>A	7.37:g.111418330A>T			111205566	O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722834	0.89298	.	.	ENSG00000128512	ENST00000352877;ENST00000423057;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000437129;ENST00000450156;ENST00000417165	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111205566	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	9.257000	0.95545	2.333000	0.79357	0.533000	0.62120	.		0.378	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Intron	T	111418330	A	T	111418330	5	4	166	1	0	0	0	0	0	0	1	0	4689	405	14	5	2318	5	DOCK4	7	111418330	Splice_Site	SNP	A	TCGA-20-1686-01A-01W-0633-09	10737280	111418330	47720333	34	9335											
FAM40B	57464	genome.wustl.edu	37	7	129096376	129096376	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:129096376G>C	ENST00000249344.2	+	9	971	c.931G>C	c.(931-933)Gtg>Ctg	p.V311L	STRIP2_ENST00000435494.2_Missense_Mutation_p.V311L	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	311					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TATCCAGGTGGTGAAGAGCAT	0.592																																																0			7											97	89	92					7																	129096376		2203	4300	6503	128883612	SO:0001583	missense	57464			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.931G>C	7.37:g.129096376G>C	ENSP00000249344:p.Val311Leu		128883612	Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141837	0.57044	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.45668	0.9;0.89	5.8	5.8	0.92144	.	0.131490	0.50627	D	0.000110	T	0.39226	0.1070	L	0.57536	1.79	0.48135	D	0.999597	P;B	0.39216	0.664;0.037	B;B	0.37888	0.26;0.124	T	0.14924	-1.0455	10	0.28530	T	0.3	-21.404	12.0114	0.53289	0.0789:0.0:0.9211:0.0	.	311;311	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	L	311	ENSP00000249344:V311L;ENSP00000392393:V311L	ENSP00000249344:V311L	V	+	1	0	FAM40B	128883612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.963000	0.49184	2.758000	0.94735	0.561000	0.74099	GTG		0.592	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		C	129096376	G	C	129096376	3	2	166	1	0	0	0	0	1	0	0	0	5561	1261	44	3	965	3	FAM40B	7	129096376	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	17678046	129096376	30042287	35	9336											
CHD7	55636	genome.wustl.edu	37	8	61773615	61773615	+	Silent	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr8:61773615A>G	ENST00000423902.2	+	35	8240	c.7761A>G	c.(7759-7761)aaA>aaG	p.K2587K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2587					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATGCTCCTAAAAATAAGGATT	0.458																																																0			8											59	59	59					8																	61773615		1953	4147	6100	61936169	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7761A>G	8.37:g.61773615A>G			61936169	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		G	61773615	A	G	61773615	2	3	166	1	0	0	0	0	0	0	0	1	3330	11	1	4		4	CHD7	8	61773615	Silent	SNP	A	TCGA-20-1686-01A-01W-0633-09		61773615	84590407	36	9337											
EBAG9	9166	genome.wustl.edu	37	8	110563124	110563124	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr8:110563124G>C	ENST00000337573.5	+	2	371	c.71G>C	c.(70-72)aGa>aCa	p.R24T	EBAG9_ENST00000531677.1_Missense_Mutation_p.R24T|EBAG9_ENST00000395785.2_Missense_Mutation_p.R24T|EBAG9_ENST00000529502.1_3'UTR	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	24					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TTCCTAAAGAGATTAATATGC	0.393																																																0			8											67	61	63					8																	110563124		2200	4295	6495	110632300	SO:0001583	missense	9166			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.71G>C	8.37:g.110563124G>C	ENSP00000337675:p.Arg24Thr		110632300	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456289	0.63401	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000534318;ENST00000531677	.	.	.	5.76	5.76	0.90799	.	0.039459	0.85682	D	0.000000	T	0.62514	0.2434	M	0.78637	2.42	0.58432	D	0.999995	B	0.34329	0.449	B	0.31614	0.133	T	0.67090	-0.5758	9	0.87932	D	0	-9.4004	12.5841	0.56408	0.0838:0.0:0.9162:0.0	.	24	O00559	RCAS1_HUMAN	T	24	.	ENSP00000337675:R24T	R	+	2	0	EBAG9	110632300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.234000	0.65343	2.880000	0.98712	0.650000	0.86243	AGA		0.393	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		C	110563124	G	C	110563124	3	2	166	1	0	0	0	0	1	0	0	0	4879	942	33	3	73	3	EBAG9	8	110563124	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	48789509	110563124	35800898	37	9338											
CSMD3	114788	genome.wustl.edu	37	8	113349022	113349022	+	Missense_Mutation	SNP	G	G	T	rs557032105		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr8:113349022G>T	ENST00000297405.5	-	44	7122	c.6878C>A	c.(6877-6879)aCc>aAc	p.T2293N	CSMD3_ENST00000343508.3_Missense_Mutation_p.T2253N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2223N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2189N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2293	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAATAAATGGTGCCATTCAT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											82	76	78					8																	113349022		2203	4300	6503	113418198	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6878C>A	8.37:g.113349022G>T	ENSP00000297405:p.Thr2293Asn		113418198	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939355	0.92526	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.64	5.64	0.86602	CUB (5);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;D;D	0.87578	0.998;0.984;0.996	T	0.71083	-0.4695	10	0.40728	T	0.16	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2189;2293;2253	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	2253;2293;1563;2189;2223	ENSP00000345799:T2253N;ENSP00000297405:T2293N;ENSP00000341558:T1563N;ENSP00000412263:T2189N;ENSP00000343124:T2223N	ENSP00000297405:T2293N	T	-	2	0	CSMD3	113418198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	ACC		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113349022	G	T	113349022	3	4	166	1	0	0	0	0	1	0	0	0	3946	1261	44	3	4357	3	CSMD3	8	113349022	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	2785898	113349022	33015000	38	9339											
KDM4C	23081	genome.wustl.edu	37	9	7013853	7013853	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr9:7013853G>A	ENST00000381309.3	+	14	2599	c.2034G>A	c.(2032-2034)tcG>tcA	p.S678S	KDM4C_ENST00000381306.3_Silent_p.S678S|KDM4C_ENST00000543771.1_Silent_p.S678S|KDM4C_ENST00000535193.1_Silent_p.S700S|KDM4C_ENST00000442236.2_Silent_p.S423S|KDM4C_ENST00000536108.1_Silent_p.S497S|KDM4C_ENST00000428870.2_Silent_p.S365S	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	678					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCGTTACATCGGAGGGAAAGA	0.383																																																0			9											121	116	117					9																	7013853		2203	4300	6503	7003853	SO:0001819	synonymous_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2034G>A	9.37:g.7013853G>A			7003853	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	CCDS6471.1																																																																																				0.383	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		A	7013853	G	A	7013853	2	1	166	1	0	0	0	0	0	0	0	1	8130	1103	39	1		1	KDM4C	9	7013853	Silent	SNP	G	TCGA-20-1686-01A-01W-0633-09		7013853	134199578	39	9340											
C9orf79	286234	genome.wustl.edu	37	9	90501393	90501393	+	Missense_Mutation	SNP	C	C	G	rs146480415		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr9:90501393C>G	ENST00000325643.5	+	4	2057	c.1991C>G	c.(1990-1992)cCc>cGc	p.P664R		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	664					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCAGGGAGGCCCCAGAGTCAG	0.617																																																0			9											37	46	43					9																	90501393		2203	4299	6502	89691213	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1991C>G	9.37:g.90501393C>G	ENSP00000322640:p.Pro664Arg		89691213	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	2.409	-0.335875	0.05278	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.06933	3.24	1.83	-1.49	0.08718	.	2.760280	0.01313	N	0.010686	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	D;P	0.54772	0.968;0.793	P;B	0.49332	0.607;0.252	T	0.21449	-1.0245	10	0.15499	T	0.54	.	2.865	0.05599	0.3769:0.2724:0.3506:0.0	.	664;316	Q6ZUB1;Q8NA33	CI079_HUMAN;.	R	664;316	ENSP00000322640:P664R	ENSP00000322640:P664R	P	+	2	0	C9orf79	89691213	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	-0.448000	0.07128	-0.357000	0.07601	CCC		0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		G	90501393	C	G	90501393	3	3	166	1	0	0	0	0	1	0	0	0	2497	623	22	3	2005	3	C9orf79	9	90501393	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	83487540	90501393	50712038	40	9341											
ASPN	54829	genome.wustl.edu	37	9	95236930	95236930	+	Nonsense_Mutation	SNP	G	G	A	rs148382623		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr9:95236930G>A	ENST00000375544.3	-	2	493	c.250C>T	c.(250-252)Cga>Tga	p.R84*	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Nonsense_Mutation_p.R84*|ASPN_ENST00000375543.1_Nonsense_Mutation_p.R84*|ASPN_ENST00000450139.2_Nonsense_Mutation_p.R56*	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	84	Cys-rich.|LRRNT.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R84R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TGTACAACTCGTGAATAGCAC	0.348																																																1	Substitution - coding silent(1)	large_intestine(1)	9						G	,stop/ARG,stop/ARG	0,4406		0,0,2203	116	106	109		,250,250	3.1	0.8	9	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	intron,stop-gained,stop-gained	ASPN,CENPP	NM_001012267.1,NM_001193335.1,NM_017680.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,84/244,84/381	95236930	1,13005	2203	4300	6503	94276751	SO:0001587	stop_gained	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.250C>T	9.37:g.95236930G>A	ENSP00000364694:p.Arg84*		94276751	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Nonsense_Mutation	SNP	ENST00000375544.3	37		.	.	.	.	.	.	.	.	.	.	G	37	6.036759	0.97226	0.0	1.16E-4	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	.	.	.	5.3	3.14	0.36123	.	0.202350	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9741	0.58529	0.0:0.0:0.2013:0.7987	.	.	.	.	X	84;84;84;56	.	ENSP00000364693:R84X	R	-	1	2	ASPN	94276751	1.000000	0.71417	0.820000	0.32676	0.994000	0.84299	3.412000	0.52679	0.556000	0.29098	0.650000	0.86243	CGA		0.348	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		A	95236930	G	A	95236930	4	1	166	1	0	0	0	0	0	1	0	0	1057	1153	40	1	920	1	ASPN	9	95236930	Nonsense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	4735537	95236930	45976501	41	9342											
DBC1	1620	genome.wustl.edu	37	9	121929934	121929934	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr9:121929934A>C	ENST00000265922.3	-	8	2175	c.1714T>G	c.(1714-1716)Tcg>Gcg	p.S572A	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	572					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CAGCCCTCCGAATGGCTCCCG	0.562																																																0			9											43	44	43					9																	121929934		2203	4296	6499	120969755	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1714T>G	9.37:g.121929934A>C	ENSP00000265922:p.Ser572Ala		120969755	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089783	0.55968	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.18960	2.18	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	M	0.61703	1.905	0.80722	D	1	P	0.44690	0.841	P	0.51170	0.661	T	0.09618	-1.0666	10	0.66056	D	0.02	-9.3865	15.8802	0.79197	1.0:0.0:0.0:0.0	.	572	O60477	DBC1_HUMAN	A	572	ENSP00000265922:S572A	ENSP00000265922:S572A	S	-	1	0	DBC1	120969755	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	9.243000	0.95416	2.145000	0.66743	0.533000	0.62120	TCG		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		C	121929934	A	C	121929934	3	2	166	1	0	0	0	0	1	0	0	0	4247	246	9	5	575	5	DBC1	9	121929934	Missense_Mutation	SNP	A	TCGA-20-1686-01A-01W-0633-09	26693004	121929934	19283497	42	9343											
FAM21C	253725	genome.wustl.edu	37	10	46264937	46264937	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr10:46264937C>T	ENST00000336378.4	+	20	2022	c.1904C>T	c.(1903-1905)tCt>tTt	p.S635F	FAM21C_ENST00000374362.2_Missense_Mutation_p.S637F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S637F|FAM21C_ENST00000537517.1_Missense_Mutation_p.S613F|FAM21C_ENST00000359860.4_Missense_Mutation_p.S579F	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	635					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CACTTAGCATCTGACAGCAGG	0.463																																																0			10											6	6	6					10																	46264937		1491	3506	4997	45584943	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1904C>T	10.37:g.46264937C>T	ENSP00000337541:p.Ser635Phe		45584943	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	C	11.97	1.797008	0.31777	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.29	3.29	0.37713	.	0.486350	0.20370	N	0.093664	T	0.52917	0.1764	M	0.68317	2.08	0.21822	N	0.999523	P;P;P;P	0.52170	0.937;0.951;0.951;0.94	P;P;P;P	0.55508	0.777;0.739;0.739;0.667	T	0.43845	-0.9366	9	0.72032	D	0.01	-6.9813	10.2223	0.43205	0.0:1.0:0.0:0.0	.	613;637;635;580	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	F	635;637;613;637;637;579;549	.	ENSP00000337541:S635F	S	+	2	0	FAM21C	45584943	0.869000	0.29996	0.153000	0.22517	0.248000	0.25809	2.246000	0.43142	1.836000	0.53414	0.549000	0.68633	TCT		0.463	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	46264937	C	T	46264937	3	4	166	1	0	0	0	0	1	0	0	0	5542	913	32	2	1988	2	FAM21C	10	46264937	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09		46264937	89269810	43	9344											
FRMPD2	143162	genome.wustl.edu	37	10	49392661	49392661	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr10:49392661C>G	ENST00000374201.3	-	20	2834	c.2532G>C	c.(2530-2532)agG>agC	p.R844S	FRMPD2_ENST00000407470.4_Missense_Mutation_p.R812S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R819S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	844	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTGGATCATCCTAACAGCCA	0.408																																																0			10											105	101	103					10																	49392661		2203	4300	6503	49062667	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2532G>C	10.37:g.49392661C>G	ENSP00000363317:p.Arg844Ser		49062667	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735294	0.30774	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.38077	1.16;1.16;1.16	5.17	1.53	0.23141	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.12817	0.0311	N	0.01618	-0.8	0.25126	N	0.990601	B;B;B	0.28128	0.201;0.135;0.201	B;B;B	0.32289	0.032;0.143;0.032	T	0.37197	-0.9716	9	0.11794	T	0.64	.	7.3434	0.26650	0.0:0.257:0.0:0.743	.	819;844;812	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	S	844;819;812	ENSP00000363317:R844S;ENSP00000307079:R819S;ENSP00000384339:R812S	ENSP00000307079:R819S	R	-	3	2	FRMPD2	49062667	0.974000	0.33945	0.936000	0.37596	0.648000	0.38561	0.258000	0.18387	0.016000	0.14998	-0.793000	0.03317	AGG		0.408	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		G	49392661	C	G	49392661	3	3	166	1	0	0	0	0	1	0	0	0	6058	854	30	3	1437	3	FRMPD2	10	49392661	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	3127724	49392661	86142086	44	9345											
PKD2L1	9033	genome.wustl.edu	37	10	102059462	102059462	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr10:102059462C>T	ENST00000318222.3	-	3	745	c.363G>A	c.(361-363)atG>atA	p.M121I	PKD2L1_ENST00000353274.3_Missense_Mutation_p.M121I|PKD2L1_ENST00000338519.3_Missense_Mutation_p.M121I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	121					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGAGCTTGTCATTCCATAGG	0.483																																																0			10											161	137	145					10																	102059462		2203	4300	6503	102049452	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.363G>A	10.37:g.102059462C>T	ENSP00000325296:p.Met121Ile		102049452	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957728	0.92726	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.60548	0.34;0.18;0.24	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	M	0.83384	2.64	0.54753	D	0.999984	D;D	0.76494	0.999;0.983	D;P	0.67900	0.954;0.852	T	0.74084	-0.3779	10	0.22706	T	0.39	-26.8559	17.9675	0.89103	0.0:1.0:0.0:0.0	.	74;121	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	I	121	ENSP00000345068:M121I;ENSP00000266049:M121I;ENSP00000325296:M121I	ENSP00000325296:M121I	M	-	3	0	PKD2L1	102049452	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.441000	0.80485	2.480000	0.83734	0.555000	0.69702	ATG		0.483	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		T	102059462	C	T	102059462	3	4	166	1	0	0	0	0	1	0	0	0	11967	826	29	2	2110	2	PKD2L1	10	102059462	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	52666801	102059462	33475285	45	9346											
TRIM5	85363	genome.wustl.edu	37	11	5699665	5699665	+	Splice_Site	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:5699665C>T	ENST00000380034.3	-	4	770		c.e4-1		TRIM5_ENST00000305836.5_Splice_Site|TRIM5_ENST00000380027.1_Splice_Site|TRIM5_ENST00000396855.3_Splice_Site|TRIM5_ENST00000396847.3_Splice_Site|TRIM5_ENST00000483835.1_Splice_Site|TRIM5_ENST00000396853.4_Splice_Site	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5						activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTATTTGAGTCTTCAGAGATA	0.483																																																0			11											77	78	78					11																	5699665		2201	4297	6498	5656241	SO:0001630	splice_region_variant	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.514-1G>A	11.37:g.5699665C>T			5656241	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Splice_Site	SNP	ENST00000380034.3	37	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	c	12.65	2.001764	0.35320	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000438025;ENST00000396853;ENST00000412903	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9245	0.63955	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM5	5656241	0.927000	0.31430	0.139000	0.22197	0.010000	0.07245	3.300000	0.51834	2.559000	0.86315	0.651000	0.88453	.		0.483	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034	Intron	T	5699665	C	T	5699665	5	4	166	1	0	0	0	0	0	0	1	0	16525	927	32	2	1227	2	TRIM5	11	5699665	Splice_Site	SNP	C	TCGA-20-1686-01A-01W-0633-09		5699665	129306851	46	9347											
NLRP14	338323	genome.wustl.edu	37	11	7079616	7079616	+	Silent	SNP	T	T	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:7079616T>A	ENST00000299481.4	+	8	2914	c.2568T>A	c.(2566-2568)ggT>ggA	p.G856G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	856					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGTCTTGGGTGATGGTGGAG	0.418																																																0			11											199	168	179					11																	7079616		2201	4296	6497	7036192	SO:0001819	synonymous_variant	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2568T>A	11.37:g.7079616T>A			7036192	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																				0.418	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		A	7079616	T	A	7079616	2	1	166	1	0	0	0	0	0	0	0	1	10476	1683	59	5		5	NLRP14	11	7079616	Silent	SNP	T	TCGA-20-1686-01A-01W-0633-09	1379951	7079616	127926900	47	9348											
PRG2	5553	genome.wustl.edu	37	11	57156171	57156171	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:57156171C>T	ENST00000311862.5	-	4	450	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	PRG2_ENST00000533605.1_Missense_Mutation_p.R115Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R126Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	126	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GTAGCACCTCCGGCAAGTAAA	0.473																																																0			11											77	74	75					11																	57156171		2201	4296	6497	56912747	SO:0001583	missense	5553			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.377G>A	11.37:g.57156171C>T	ENSP00000312134:p.Arg126Gln		56912747	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	9.726	1.160994	0.21538	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.41400	1.0;2.24;1.0	5.23	-8.77	0.00827	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.919482	0.08918	N	0.874843	T	0.27866	0.0686	L	0.31804	0.96	0.09310	N	1	B;B	0.16166	0.001;0.016	B;B	0.13407	0.002;0.009	T	0.23404	-1.0189	10	0.20046	T	0.44	.	17.99	0.89165	0.0:0.7086:0.0:0.2914	.	115;126	A6XMW0;P13727	.;PRG2_HUMAN	Q	126;115;126	ENSP00000312134:R126Q;ENSP00000433231:R115Q;ENSP00000433016:R126Q	ENSP00000312134:R126Q	R	-	2	0	PRG2	56912747	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.102000	0.00603	-1.812000	0.01227	-1.192000	0.01694	CGG		0.473	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		T	57156171	C	T	57156171	3	4	166	1	0	0	0	0	1	0	0	0	12482	652	23	1	303	1	PRG2	11	57156171	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	50076555	57156171	77850345	48	9349											
PYGM	5837	genome.wustl.edu	37	11	64519456	64519456	+	Missense_Mutation	SNP	G	G	A	rs377225525		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:64519456G>A	ENST00000164139.3	-	14	2106	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	PYGM_ENST00000377432.3_Missense_Mutation_p.R482W|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	570					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCGTGAATCCGCTTCACCTGG	0.512																																																0			11	GRCh37	CM076447	PYGM	M		G	TRP/ARG,TRP/ARG	0,4402		0,0,2201	215	181	192		1444,1708	2.4	1	11		192	1,8593		0,1,4296	no	missense,missense	PYGM	NM_001164716.1,NM_005609.2	101,101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	482/755,570/843	64519456	1,12995	2201	4297	6498	64276032	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1708C>T	11.37:g.64519456G>A	ENSP00000164139:p.Arg570Trp		64276032	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073843	0.76415	0.0	1.16E-4	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.98777	-3.95;-5.13	5.71	2.44	0.29823	.	0.113829	0.38217	N	0.001764	D	0.99444	0.9803	H	0.98918	4.37	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98003	1.0361	10	0.87932	D	0	-27.3256	12.1431	0.54008	0.0:0.0:0.4898:0.5102	.	482;570	A6NDY6;P11217	.;PYGM_HUMAN	W	482;570;551	ENSP00000366650:R482W;ENSP00000164139:R570W	ENSP00000164139:R570W	R	-	1	2	PYGM	64276032	0.960000	0.32886	1.000000	0.80357	0.997000	0.91878	0.153000	0.16323	1.356000	0.45884	0.561000	0.74099	CGG		0.512	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		A	64519456	G	A	64519456	3	1	166	1	0	0	0	0	1	0	0	0	12865	1086	38	1	848	1	PYGM	11	64519456	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	7363285	64519456	70487060	49	9350											
DPP3	10072	genome.wustl.edu	37	11	66260343	66260343	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:66260343C>A	ENST00000360510.2	+	10	1210	c.1145C>A	c.(1144-1146)gCt>gAt	p.A382D	DPP3_ENST00000532677.1_Missense_Mutation_p.A401D|DPP3_ENST00000530165.1_Missense_Mutation_p.A352D|DPP3_ENST00000541961.1_Missense_Mutation_p.A382D|DPP3_ENST00000453114.1_Missense_Mutation_p.A382D|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.A402D			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	382					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTCACCTTCGCTGGCTCCGGC	0.617																																																0			11											78	79	78					11																	66260343		2200	4295	6495	66016919	SO:0001583	missense	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1145C>A	11.37:g.66260343C>A	ENSP00000353701:p.Ala382Asp		66016919	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384316	0.82792	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75	5.41	5.41	0.78517	.	0.164374	0.53938	D	0.000047	T	0.57021	0.2025	M	0.89715	3.055	0.47123	D	0.999323	D;P	0.63046	0.992;0.787	D;D	0.79108	0.992;0.983	T	0.64918	-0.6294	10	0.87932	D	0	.	12.4451	0.55647	0.0:0.8313:0.1687:0.0	.	401;382	G3V1D3;Q9NY33	.;DPP3_HUMAN	D	402;401;382;382;382;352;280	ENSP00000432782:A402D;ENSP00000435284:A401D;ENSP00000353701:A382D;ENSP00000389943:A382D;ENSP00000440502:A382D;ENSP00000436941:A352D	ENSP00000353701:A382D	A	+	2	0	DPP3	66016919	1.000000	0.71417	0.985000	0.45067	0.708000	0.40852	5.376000	0.66178	2.535000	0.85469	0.655000	0.94253	GCT		0.617	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			A	66260343	C	A	66260343	3	1	166	1	0	0	0	0	1	0	0	0	4728	797	28	3	1179	3	DPP3	11	66260343	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	1740887	66260343	68746173	50	9351											
RASSF8	11228	genome.wustl.edu	37	12	26218197	26218197	+	Missense_Mutation	SNP	G	G	T	rs79553120	byFrequency	TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr12:26218197G>T	ENST00000405154.2	+	3	1069	c.870G>T	c.(868-870)gaG>gaT	p.E290D	RASSF8_ENST00000381352.3_Missense_Mutation_p.E290D|RASSF8_ENST00000542865.1_Missense_Mutation_p.E290D|RASSF8_ENST00000541490.1_Missense_Mutation_p.E290D|RASSF8_ENST00000282884.9_Missense_Mutation_p.E290D	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	290	Glu-rich.				signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGAGGAAGAGGTTAAAGGAA	0.443																																																0			12											114	106	109					12																	26218197		2203	4300	6503	26109464	SO:0001583	missense	11228			U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"chromosome 12 open reading frame 2"	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.870G>T	12.37:g.26218197G>T	ENSP00000384491:p.Glu290Asp		26109464	A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651283	0.47362	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.21	4.3	0.51218	.	0.052379	0.85682	D	0.000000	D	0.86912	0.6047	N	0.19112	0.55	0.41451	D	0.987981	D;P	0.53619	0.961;0.608	P;B	0.49597	0.616;0.052	D	0.83611	0.0134	10	0.23891	T	0.37	-13.6991	9.6083	0.39648	0.0792:0.1444:0.7764:0.0	.	290;290	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	D	290	ENSP00000370756:E290D;ENSP00000384491:E290D;ENSP00000439839:E290D;ENSP00000443096:E290D;ENSP00000282884:E290D	ENSP00000282884:E290D	E	+	3	2	RASSF8	26109464	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.595000	0.36708	2.609000	0.88269	0.563000	0.77884	GAG		0.443	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		T	26218197	G	T	26218197	3	4	166	1	0	0	0	0	1	0	0	0	13095	991	35	3	876	3	RASSF8	12	26218197	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09		26218197	107633698	51	9352											
MAP3K12	7786	genome.wustl.edu	37	12	53881061	53881061	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr12:53881061C>T	ENST00000267079.2	-	2	340	c.115G>A	c.(115-117)Gag>Aag	p.E39K	MAP3K12_ENST00000547035.1_Missense_Mutation_p.E39K|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547488.1_Missense_Mutation_p.E39K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	39					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGTCCTTCTCGGGAGTGCAG	0.622																																																0			12											137	108	118					12																	53881061		2203	4300	6503	52167328	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.115G>A	12.37:g.53881061C>T	ENSP00000267079:p.Glu39Lys		52167328	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047772	0.93740	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035;ENST00000547151	T;T;T	0.79653	-1.28;-1.29;-1.29	4.9	4.9	0.64082	.	0.000000	0.46145	D	0.000302	T	0.75496	0.3857	N	0.24115	0.695	0.58432	D	0.999997	D;D	0.64830	0.994;0.99	P;B	0.47470	0.548;0.277	T	0.79217	-0.1894	10	0.54805	T	0.06	.	17.2243	0.86965	0.0:1.0:0.0:0.0	.	39;39	G3V1Y2;Q12852	.;M3K12_HUMAN	K	39	ENSP00000267079:E39K;ENSP00000449038:E39K;ENSP00000448689:E39K	ENSP00000267079:E39K	E	-	1	0	MAP3K12	52167328	1.000000	0.71417	0.952000	0.39060	0.933000	0.57130	7.007000	0.76335	2.448000	0.82819	0.313000	0.20887	GAG		0.622	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		T	53881061	C	T	53881061	3	4	166	1	0	0	0	0	1	0	0	0	9246	893	31	1	2520	1	MAP3K12	12	53881061	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	27662864	53881061	79970834	52	9353											
USP15	9958	genome.wustl.edu	37	12	62749122	62749122	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr12:62749122T>C	ENST00000280377.5	+	8	839	c.781T>C	c.(781-783)Tca>Cca	p.S261P	USP15_ENST00000393654.3_Missense_Mutation_p.S236P|USP15_ENST00000353364.3_Missense_Mutation_p.S232P|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	261					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGTGAAAAACTCAAATTACTG	0.328																																					Melanoma(181;615 2041 39364 49691 50001)											0			12											64	63	64					12																	62749122		2203	4298	6501	61035389	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.781T>C	12.37:g.62749122T>C	ENSP00000280377:p.Ser261Pro		61035389	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441053	0.83993	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.21031	2.05;2.03;2.04	5.45	5.45	0.79879	.	0.232564	0.37715	N	0.001980	T	0.23014	0.0556	L	0.36672	1.1	0.80722	D	1	P;P	0.37997	0.488;0.614	B;B	0.42851	0.228;0.4	T	0.02320	-1.1177	9	.	.	.	-8.9236	15.5204	0.75862	0.0:0.0:0.0:1.0	.	261;232	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	P	232;261;236	ENSP00000258123:S232P;ENSP00000280377:S261P;ENSP00000377264:S236P	.	S	+	1	0	USP15	61035389	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.247000	0.78257	2.077000	0.62373	0.455000	0.32223	TCA		0.328	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		C	62749122	T	C	62749122	3	2	166	1	0	0	0	0	1	0	0	0	17046	1551	54	4	720	4	USP15	12	62749122	Missense_Mutation	SNP	T	TCGA-20-1686-01A-01W-0633-09	8868061	62749122	71102773	53	9354											
CIT	11113	genome.wustl.edu	37	12	120313967	120313967	+	Silent	SNP	C	C	T	rs140692057		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr12:120313967C>T	ENST00000261833.7	-	2	58	c.6G>A	c.(4-6)ttG>ttA	p.L2L	CIT_ENST00000392521.2_Silent_p.L2L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	2					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATTTGAACTTCAACATCTCCC	0.507																																																0			12											73	74	74					12																	120313967		2203	4300	6503	118798350	SO:0001819	synonymous_variant	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.6G>A	12.37:g.120313967C>T			118798350	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1																																																																																				0.507	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120313967	C	T	120313967	2	4	166	1	0	0	0	0	0	0	0	1	3438	825	29	2		2	CIT	12	120313967	Silent	SNP	C	TCGA-20-1686-01A-01W-0633-09	57564845	120313967	13537928	54	9355											
SPTB	6710	genome.wustl.edu	37	14	65240071	65240071	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr14:65240071C>T	ENST00000389721.5	-	24	5077	c.5045G>A	c.(5044-5046)cGc>cAc	p.R1682H	SPTB_ENST00000389720.3_Missense_Mutation_p.R1682H|SPTB_ENST00000556626.1_Missense_Mutation_p.R1682H|SPTB_ENST00000542895.1_Missense_Mutation_p.R1682H|SPTB_ENST00000389722.3_Missense_Mutation_p.R1682H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1682					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R1682H(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTTGCGCTTGCGCTCTTCCGC	0.552																																																1	Substitution - Missense(1)	large_intestine(1)	14											131	113	119					14																	65240071		2203	4300	6503	64309824	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5045G>A	14.37:g.65240071C>T	ENSP00000374371:p.Arg1682His		64309824	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912487	0.72983	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.80999	0.4732	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.85189	0.1008	10	0.87932	D	0	.	17.6535	0.88171	0.0:1.0:0.0:0.0	.	466;1682;1686	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	H	1686;1682;466;347;1682;1682;1682;1682	ENSP00000374372:R1682H;ENSP00000451324:R347H;ENSP00000451752:R1682H;ENSP00000374371:R1682H;ENSP00000443882:R1682H;ENSP00000374370:R1682H	ENSP00000334218:R466H	R	-	2	0	SPTB	64309824	1.000000	0.71417	0.353000	0.25747	0.147000	0.21601	7.792000	0.85828	2.537000	0.85549	0.561000	0.74099	CGC		0.552	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65240071	C	T	65240071	3	4	166	1	0	0	0	0	1	0	0	0	15120	768	27	1	2058	1	SPTB	14	65240071	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09		65240071	42109469	55	9356											
RYR3	6263	genome.wustl.edu	37	15	34105732	34105732	+	Missense_Mutation	SNP	G	G	A	rs192619532		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:34105732G>A	ENST00000389232.4	+	74	10524	c.10454G>A	c.(10453-10455)cGg>cAg	p.R3485Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3480Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3485	Interaction with CALM. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R3485L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACGGAAACGGGCAGTGGTG	0.522													G|||	1	0.000199681	0	0	5008	,	,		20980	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	lung(1)	15											136	134	135					15																	34105732		1956	4137	6093	31893024	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10454G>A	15.37:g.34105732G>A	ENSP00000373884:p.Arg3485Gln		31893024	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	36	5.704145	0.96812	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97850	-4.57	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	D	0.98353	0.9453	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.927;0.991	D	0.99748	1.1017	10	0.87932	D	0	.	18.1303	0.89599	0.0:0.0:1.0:0.0	.	3480;3485	Q15413-2;Q15413	.;RYR3_HUMAN	Q	3485;3485;3480	ENSP00000373884:R3485Q	ENSP00000354735:R3480Q	R	+	2	0	RYR3	31893024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.601000	0.98297	2.511000	0.84671	0.655000	0.94253	CGG		0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34105732	G	A	34105732	3	1	166	1	0	0	0	0	1	0	0	0	13773	1116	39	1	10748	1	RYR3	15	34105732	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09		34105732	68425660	56	9357											
NDUFAF1	51103	genome.wustl.edu	37	15	41687167	41687167	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:41687167G>A	ENST00000260361.4	-	3	1030	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	217					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		ATCCAAGGCCGACCATCCCCA	0.463																																																0			15											131	104	113					15																	41687167		2203	4300	6503	39474459	SO:0001583	missense	51103			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.649C>T	15.37:g.41687167G>A	ENSP00000260361:p.Arg217Trp		39474459	Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316048	0.81469	.	.	ENSG00000137806	ENST00000260361	T	0.81330	-1.48	5.63	5.63	0.86233	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93381	0.6743	10	0.87932	D	0	-3.6358	14.8132	0.70010	0.0:0.0:0.8225:0.1775	.	217	Q9Y375	CIA30_HUMAN	W	217	ENSP00000260361:R217W	ENSP00000260361:R217W	R	-	1	2	NDUFAF1	39474459	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	3.379000	0.52440	2.829000	0.97493	0.551000	0.68910	CGG		0.463	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		A	41687167	G	A	41687167	3	1	166	1	0	0	0	0	1	0	0	0	10274	1057	37	1	346	1	NDUFAF1	15	41687167	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	7581435	41687167	60844225	57	9358											
SNUPN	10073	genome.wustl.edu	37	15	75901947	75901947	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:75901947A>C	ENST00000564644.1	-	6	1032	c.454T>G	c.(454-456)Ttt>Gtt	p.F152V	SNUPN_ENST00000564675.1_Missense_Mutation_p.F152V|SNUPN_ENST00000308588.5_Missense_Mutation_p.F152V|SNUPN_ENST00000567134.1_Missense_Mutation_p.F152V|SNUPN_ENST00000371091.5_Missense_Mutation_p.F194V			O95149	SPN1_HUMAN	snurportin 1	152	Necessary for interaction with XPO1.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						AGTGAAGAAAACCTGTTGACA	0.453																																																0			15											110	110	110					15																	75901947		2197	4294	6491	73689002	SO:0001583	missense	10073			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.454T>G	15.37:g.75901947A>C	ENSP00000454852:p.Phe152Val		73689002	A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	ENST00000564644.1	37	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	a	22.8	4.337976	0.81911	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.69040	-0.37;-0.37	5.4	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	M	0.82923	2.615	0.80722	D	1	P;B	0.41159	0.74;0.223	P;B	0.50754	0.649;0.163	T	0.76195	-0.3048	10	0.49607	T	0.09	-12.3259	10.8234	0.46619	0.8585:0.0:0.0:0.1415	.	194;152	C9K0X5;O95149	.;SPN1_HUMAN	V	152;194	ENSP00000309831:F152V;ENSP00000360132:F194V	ENSP00000309831:F152V	F	-	1	0	SNUPN	73689002	1.000000	0.71417	0.931000	0.37212	0.896000	0.52359	5.136000	0.64783	0.881000	0.35993	0.445000	0.29226	TTT		0.453	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		C	75901947	A	C	75901947	3	2	166	1	0	0	0	0	1	0	0	0	14880	43	2	5	648	5	SNUPN	15	75901947	Missense_Mutation	SNP	A	TCGA-20-1686-01A-01W-0633-09	34214780	75901947	26629445	58	9359											
ADAMTS7	11173	genome.wustl.edu	37	15	79069115	79069115	+	Silent	SNP	G	G	A	rs143665439		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:79069115G>A	ENST00000388820.4	-	10	1746	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	512	Disintegrin.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACCGGGTGCCGTCCACAGCTG	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		16472	0		0	False		,,,				2504	0															0			15						G		1,4245		0,1,2122	80	59	66		1536	-8.2	0.4	15	dbSNP_134	66	4,8320		0,4,4158	no	coding-synonymous	ADAMTS7	NM_014272.3		0,5,6280	AA,AG,GG		0.0481,0.0236,0.0398		512/1687	79069115	5,12565	2123	4162	6285	76856170	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1536C>T	15.37:g.79069115G>A			76856170	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																				0.627	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		A	79069115	G	A	79069115	2	1	166	1	0	0	0	0	0	0	0	1	271	1136	40	1		1	ADAMTS7	15	79069115	Silent	SNP	G	TCGA-20-1686-01A-01W-0633-09	3167168	79069115	23462277	59	9360											
SLCO3A1	28232	genome.wustl.edu	37	15	92663856	92663856	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:92663856C>G	ENST00000318445.6	+	5	1385	c.1171C>G	c.(1171-1173)Ctt>Gtt	p.L391V	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.L391V|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	391					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CAACCAGCTGCTTGGTGAGTG	0.562																																																0			15											120	117	118					15																	92663856		2198	4298	6496	90464860	SO:0001583	missense	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1171C>G	15.37:g.92663856C>G	ENSP00000320634:p.Leu391Val		90464860	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309135	0.40895	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	D;D	0.81908	-1.55;-1.55	5.36	5.36	0.76844	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.83543	0.5277	L	0.39245	1.2	0.80722	D	1	D;D;P	0.76494	0.973;0.999;0.592	P;D;B	0.66602	0.64;0.945;0.349	T	0.78573	-0.2152	10	0.13470	T	0.59	.	9.7448	0.40440	0.0:0.8467:0.0:0.1533	.	333;391;391	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	V	391;391;110	ENSP00000320634:L391V;ENSP00000387846:L391V	ENSP00000320634:L391V	L	+	1	0	SLCO3A1	90464860	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.854000	0.48325	2.501000	0.84356	0.650000	0.86243	CTT		0.562	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		G	92663856	C	G	92663856	3	3	166	1	0	0	0	0	1	0	0	0	14731	797	28	3	1189	3	SLCO3A1	15	92663856	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	13594741	92663856	9867536	60	9361											
ALDOA	226	genome.wustl.edu	37	16	30081460	30081460	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr16:30081460G>A	ENST00000566897.1	+	12	2174	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	ALDOA_ENST00000395248.1_Missense_Mutation_p.G395E|ALDOA_ENST00000412304.2_Missense_Mutation_p.G341E|ALDOA_ENST00000395240.3_Missense_Mutation_p.G345E|ALDOA_ENST00000564546.1_Missense_Mutation_p.G341E|ALDOA_ENST00000338110.5_Missense_Mutation_p.G341E|ALDOA_ENST00000569545.1_Missense_Mutation_p.G341E|ALDOA_ENST00000569798.1_3'UTR|ALDOA_ENST00000563060.2_Missense_Mutation_p.G341E|ALDOA_ENST00000564595.2_Missense_Mutation_p.G395E			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	341					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCCTGTCAAGGAAAGTACACT	0.627																																																0			16											74	66	69					16																	30081460		2197	4300	6497	29988961	SO:0001583	missense	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.1022G>A	16.37:g.30081460G>A	ENSP00000455724:p.Gly341Glu		29988961	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	CCDS10668.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681602	0.88542	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D	0.95690	-3.78;-3.78;-3.78	5.75	5.75	0.90469	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	H	0.97265	3.97	0.80722	D	1	P	0.48911	0.917	P	0.62435	0.902	D	0.99342	1.0912	10	0.87932	D	0	.	18.7132	0.91666	0.0:0.0:1.0:0.0	.	341	P04075	ALDOA_HUMAN	E	395;341;341;341	ENSP00000378669:G395E;ENSP00000336927:G341E;ENSP00000400452:G341E	ENSP00000336927:G341E	G	+	2	0	ALDOA	29988961	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.834000	0.86773	2.720000	0.93068	0.655000	0.94253	GGA		0.627	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		A	30081460	G	A	30081460	3	1	166	1	0	0	0	0	1	0	0	0	507	1174	41	2	1052	2	ALDOA	16	30081460	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09		30081460	60273293	61	9362											
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	7518264	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	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	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	166	1	0	0	0	0	1	0	0	0	16381	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09		7577539	73617671	62	9363											
IGF2BP1	10642	genome.wustl.edu	37	17	47075144	47075144	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr17:47075144G>A	ENST00000290341.3	+	1	371	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	IGF2BP1_ENST00000515586.1_3'UTR|RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.V13M	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	13	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAACGAGAGCGTGACCCCCGC	0.642																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)											0			17											93	88	90					17																	47075144		2203	4300	6503	44430143	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.37G>A	17.37:g.47075144G>A	ENSP00000290341:p.Val13Met		44430143	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517628	0.96416	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.10382	2.88;2.88	4.94	4.94	0.65067	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000004	T	0.32466	0.0830	M	0.67569	2.06	0.33912	D	0.639826	D;D	0.89917	1.0;0.998	D;D	0.69824	0.943;0.966	T	0.42916	-0.9423	10	0.72032	D	0.01	-12.0264	18.1251	0.89583	0.0:0.0:1.0:0.0	.	13;13	C9JT33;Q9NZI8	.;IF2B1_HUMAN	M	13	ENSP00000290341:V13M;ENSP00000389135:V13M	ENSP00000290341:V13M	V	+	1	0	IGF2BP1	44430143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.323000	0.96364	2.434000	0.82447	0.650000	0.86243	GTG		0.642	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		A	47075144	G	A	47075144	3	1	166	1	0	0	0	0	1	0	0	0	7573	1145	40	1	39	1	IGF2BP1	17	47075144	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	39497605	47075144	34120066	63	9364											
DLGAP1	9229	genome.wustl.edu	37	18	3879421	3879421	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr18:3879421G>A	ENST00000315677.3	-	4	1243	c.648C>T	c.(646-648)caC>caT	p.H216H	DLGAP1_ENST00000581527.1_Silent_p.H216H|DLGAP1_ENST00000584874.1_Silent_p.H216H|DLGAP1_ENST00000515196.2_Silent_p.H216H|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	216					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCGAGGGGGCGTGGTAGATGC	0.677																																																0			18											76	83	81					18																	3879421		2203	4299	6502	3869421	SO:0001819	synonymous_variant	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.648C>T	18.37:g.3879421G>A			3869421	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	CCDS11836.1																																																																																				0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			A	3879421	G	A	3879421	2	1	166	1	0	0	0	0	0	0	0	1	4559	1136	40	1		1	DLGAP1	18	3879421	Silent	SNP	G	TCGA-20-1686-01A-01W-0633-09		3879421	74197827	64	9365											
DCC	1630	genome.wustl.edu	37	18	50912489	50912489	+	Silent	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr18:50912489C>T	ENST00000442544.2	+	16	3052	c.2436C>T	c.(2434-2436)gcC>gcT	p.A812A	DCC_ENST00000412726.1_Silent_p.A660A|DCC_ENST00000581580.1_Silent_p.A467A	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	812	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGAAAGTGCCACCACCAGGT	0.333																																																0			18											90	86	87					18																	50912489		2203	4299	6502	49166487	SO:0001819	synonymous_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2436C>T	18.37:g.50912489C>T			49166487		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																				0.333	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		T	50912489	C	T	50912489	2	4	166	1	0	0	0	0	0	0	0	1	4282	581	21	2		2	DCC	18	50912489	Silent	SNP	C	TCGA-20-1686-01A-01W-0633-09	47033068	50912489	27164759	65	9366											
RLN3	117579	genome.wustl.edu	37	19	14141732	14141755	+	In_Frame_Del	DEL	GCAAAAGTGAAATCAGTAGCCTTT	GCAAAAGTGAAATCAGTAGCCTTT	-			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	GCAAAAGTGAAATCAGTAGCCTTT	GCAAAAGTGAAATCAGTAGCCTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr19:14141732_14141755delGCAAAAGTGAAATCAGTAGCCTTT	ENST00000431365.2	+	2	458_481	c.401_424delGCAAAAGTGAAATCAGTAGCCTTT	c.(400-426)agcaaaagtgaaatcagtagcctttgc>agc	p.KSEISSLC135del	RLN3_ENST00000585987.1_3'UTR|CTB-55O6.4_ENST00000590528.1_RNA|IL27RA_ENST00000263379.2_5'Flank	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	135						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						TGGGGGTGTAGCAAAAGTGAAATCAGTAGCCTTTGCTAGTTTGA	0.607																																																0			19																																								14002755	SO:0001651	inframe_deletion	117579			AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"Endogenous ligands"	17135	protein-coding gene	gene with protein product	"prorelaxin H3"	606855	"relaxin 3 (H3)"				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.401_424delGCAAAAGTGAAATCAGTAGCCTTT	19.37:g.14141732_14141755delGCAAAAGTGAAATCAGTAGCCTTT	ENSP00000397415:p.Lys135_Cys142del		14002732	Q6UXW5	In_Frame_Del	DEL	ENST00000431365.2	37	CCDS12302.1																																																																																				0.607	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1			-	14141755	GCAAAAGTGAAATCAGTAGCCTTT	-	14141732	7	5	166	1	0	1	0	1	0	0	0	0	13396	971	34	0	407	0	RLN3	19	14141732	In_Frame_Del	DEL	GCAAAAGTGAAATCAGTAGCCTTT	TCGA-20-1686-01A-01W-0633-09		14141732	44987251	66	9367											
ZNF324B	388569	genome.wustl.edu	37	19	58967498	58967498	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr19:58967498C>T	ENST00000336614.4	+	4	1294	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	ZNF324B_ENST00000545523.1_Missense_Mutation_p.P396L|ZNF324B_ENST00000391696.1_Missense_Mutation_p.P386L	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GGCGAGAAGCCCTTCGTATGC	0.662																																																0			19											57	55	55					19																	58967498		2203	4300	6503	63659310	SO:0001583	missense	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1187C>T	19.37:g.58967498C>T	ENSP00000337473:p.Pro396Leu		63659310	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175504	0.57692	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.17054	2.3;2.3;2.3	3.22	3.22	0.36961	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41396	D	0.000888	T	0.35653	0.0939	L	0.58510	1.815	0.52099	D	0.999941	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.882	T	0.17868	-1.0355	10	0.87932	D	0	.	12.274	0.54724	0.0:1.0:0.0:0.0	.	396;386	Q6AW86;C9JTQ8	Z324B_HUMAN;.	L	396;396;386	ENSP00000337473:P396L;ENSP00000438930:P396L;ENSP00000375578:P386L	ENSP00000337473:P396L	P	+	2	0	ZNF324B	63659310	1.000000	0.71417	0.580000	0.28601	0.540000	0.34992	7.259000	0.78381	1.784000	0.52394	0.591000	0.81541	CCC		0.662	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		T	58967498	C	T	58967498	3	4	166	1	0	0	0	0	1	0	0	0	17845	623	22	2	1197	2	ZNF324B	19	58967498	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	44825766	58967498	161485	67	9368											
PREX1	57580	genome.wustl.edu	37	20	47324916	47324916	+	Missense_Mutation	SNP	G	G	A	rs375685234		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr20:47324916G>A	ENST00000371941.3	-	6	687	c.665C>T	c.(664-666)gCg>gTg	p.A222V	PREX1_ENST00000396220.1_Missense_Mutation_p.A222V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTCTGGACCGCGGGGTGGTC	0.582																																																0			20						G	VAL/ALA	0,4406		0,0,2203	120	130	127		665	5.6	0.2	20		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	PREX1	NM_020820.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	222/1660	47324916	1,13005	2203	4300	6503	46758323	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.665C>T	20.37:g.47324916G>A	ENSP00000361009:p.Ala222Val		46758323	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676973	0.29783	0.0	1.16E-4	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.64803	-0.12;-0.12	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.53938	U	0.000049	T	0.51126	0.1656	L	0.33137	0.985	0.41247	D	0.986688	P	0.35959	0.53	B	0.28139	0.086	T	0.49744	-0.8907	10	0.29301	T	0.29	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	222	Q8TCU6	PREX1_HUMAN	V	222	ENSP00000361009:A222V;ENSP00000379522:A222V	ENSP00000361009:A222V	A	-	2	0	PREX1	46758323	1.000000	0.71417	0.162000	0.22713	0.184000	0.23303	4.979000	0.63806	2.657000	0.90304	0.655000	0.94253	GCG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47324916	G	A	47324916	3	1	166	1	0	0	0	0	1	0	0	0	12479	1087	38	1	4454	1	PREX1	20	47324916	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09		47324916	15700604	68	9369											
POTED	317754	genome.wustl.edu	37	21	14983062	14983062	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr21:14983062G>A	ENST00000299443.5	+	1	565	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	171						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGAGGGACAAGGAAAAGAGGT	0.577																																																0			21											34	57	52					21																	14983062		798	3136	3934	13904933	SO:0001819	synonymous_variant	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.513G>A	21.37:g.14983062G>A			13904933	C9JCF7	Silent	SNP	ENST00000299443.5	37	CCDS13562.1																																																																																				0.577	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		A	14983062	G	A	14983062	2	1	166	1	0	0	0	0	0	0	0	1	12263	991	35	2		2	POTED	21	14983062	Silent	SNP	G	TCGA-20-1686-01A-01W-0633-09		14983062	33146833	69	9370											
N6AMT1	29104	genome.wustl.edu	37	21	30250570	30250570	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr21:30250570T>C	ENST00000303775.5	-	5	507	c.482A>G	c.(481-483)gAt>gGt	p.D161G	N6AMT1_ENST00000351429.3_Missense_Mutation_p.D133G	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	161					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TGAAAGGAGATCTGGAACCAG	0.398																																																0			21											91	92	92					21																	30250570		2203	4300	6503	29172441	SO:0001583	missense	29104			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"chromosome 21 open reading frame 127", "HemK methyltransferase family member 2"	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.482A>G	21.37:g.30250570T>C	ENSP00000303584:p.Asp161Gly		29172441	Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814252	0.32053	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.17528	2.52;2.27	5.17	3.99	0.46301	Methyltransferase small (1);	0.504572	0.22053	N	0.065292	T	0.14356	0.0347	L	0.42581	1.335	0.35851	D	0.826777	B;B	0.28636	0.218;0.001	B;B	0.29440	0.102;0.014	T	0.15407	-1.0438	10	0.23891	T	0.37	-2.9574	9.4874	0.38937	0.1582:0.0:0.0:0.8418	.	133;161	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	G	161;133	ENSP00000303584:D161G;ENSP00000286764:D133G	ENSP00000303584:D161G	D	-	2	0	N6AMT1	29172441	0.998000	0.40836	0.277000	0.24703	0.692000	0.40212	3.147000	0.50639	0.944000	0.37579	0.533000	0.62120	GAT		0.398	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		C	30250570	T	C	30250570	3	2	166	1	0	0	0	0	1	0	0	0	10114	1435	50	4	170	4	N6AMT1	21	30250570	Missense_Mutation	SNP	T	TCGA-20-1686-01A-01W-0633-09	15267508	30250570	17879325	70	9371											
RNF160	26046	genome.wustl.edu	37	21	30304906	30304906	+	Silent	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr21:30304906C>T	ENST00000361371.5	-	28	5035	c.4956G>A	c.(4954-4956)ctG>ctA	p.L1652L	LTN1_ENST00000389194.2_Silent_p.L1698L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1652					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AATTTGAAGGCAGTTGTATTA	0.398																																																0			21											144	146	145					21																	30304906		2203	4300	6503	29226777	SO:0001819	synonymous_variant	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4956G>A	21.37:g.30304906C>T			29226777	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37																																																																																					0.398	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		T	30304906	C	T	30304906	2	4	166	1	0	0	0	0	0	0	0	1	13458	697	25	2		2	RNF160	21	30304906	Silent	SNP	C	TCGA-20-1686-01A-01W-0633-09	54336	30304906	17824989	71	9372											
WAS	7454	genome.wustl.edu	37	X	48544183	48544183	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:48544183G>A	ENST00000376701.4	+	4	496	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	141	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCGGGCCCTCGTGCAGGAGAA	0.617			"Mis, N, F, S"			lymphoma																																	X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	0			X											33	30	31					X																	48544183		2198	4285	6483	48429127	SO:0001583	missense	7454			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.421G>A	X.37:g.48544183G>A	ENSP00000365891:p.Val141Met		48429127	Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441391	0.63067	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.98968	-5.28;-5.28	5.16	5.16	0.70880	EVH1 (3);Pleckstrin homology-type (1);	0.139652	0.47852	D	0.000212	D	0.98560	0.9519	L	0.49455	1.56	0.37975	D	0.933403	D	0.89917	1.0	D	0.79784	0.993	D	0.99947	1.1482	10	0.87932	D	0	-12.4988	13.1148	0.59294	0.0:0.0:1.0:0.0	.	141	P42768	WASP_HUMAN	M	141	ENSP00000410537:V141M;ENSP00000365891:V141M	ENSP00000365891:V141M	V	+	1	0	WAS	48429127	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.398000	0.52579	2.156000	0.67533	0.464000	0.42555	GTG		0.617	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		A	48544183	G	A	48544183	3	1	166	1	0	0	0	0	1	0	0	0	17251	1145	40	1	435	1	WAS	23	48544183	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09		48544183	106726377	72	9373											
MAGED2	10916	genome.wustl.edu	37	X	54839593	54839593	+	Splice_Site	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:54839593G>T	ENST00000375068.1	+	9	1441	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	MAGED2_ENST00000396224.1_Splice_Site_p.G403V|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000347546.4_Splice_Site_p.G385V|MAGED2_ENST00000375060.1_Splice_Site_p.G318V|MAGED2_ENST00000375058.1_Splice_Site_p.G403V|MAGED2_ENST00000375062.4_Splice_Site_p.G318V|MAGED2_ENST00000375053.2_Splice_Site_p.G403V|MAGED2_ENST00000218439.4_Splice_Site_p.G403V			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	403	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CTGCGCCCTGGGTATGATTGG	0.577																																																0			X											134	118	124					X																	54839593		2203	4300	6503	54856318	SO:0001630	splice_region_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1208+1G>T	X.37:g.54839593G>T			54856318	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225490	0.79576	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43	4.18	4.18	0.49190	.	0.000000	0.38436	N	0.001700	T	0.28599	0.0708	M	0.91038	3.17	0.80722	D	1	D;D	0.63046	0.992;0.979	D;P	0.65773	0.938;0.868	T	0.15521	-1.0434	10	0.87932	D	0	.	11.656	0.51318	0.0:0.0:1.0:0.0	.	318;403	Q5H907;Q9UNF1	.;MAGD2_HUMAN	V	403;403;347;385;318;403;403;318;403	ENSP00000364209:G403V;ENSP00000364193:G403V;ENSP00000336962:G347V;ENSP00000340290:G385V;ENSP00000364202:G318V;ENSP00000218439:G403V;ENSP00000364198:G403V;ENSP00000364200:G318V;ENSP00000379526:G403V	ENSP00000218439:G403V	G	+	2	0	MAGED2	54856318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.308000	0.59129	2.031000	0.59945	0.600000	0.82982	GGG		0.577	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599	Missense_Mutation	T	54839593	G	T	54839593	5	4	166	1	0	0	0	0	0	0	1	0	9184	1246	43	3	1238	3	MAGED2	23	54839593	Splice_Site	SNP	G	TCGA-20-1686-01A-01W-0633-09	6295410	54839593	100430967	73	9374											
CYLC1	1538	genome.wustl.edu	37	X	83128001	83128001	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:83128001G>A	ENST00000329312.4	+	4	322	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	95					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAGCTGCCAGGGAACAGACTC	0.373																																																0			X											39	37	38					X																	83128001		2201	4294	6495	83014657	SO:0001819	synonymous_variant	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.285G>A	X.37:g.83128001G>A			83014657	A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																				0.373	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		A	83128001	G	A	83128001	2	1	166	1	0	0	0	0	0	0	0	1	4141	1223	43	2		2	CYLC1	23	83128001	Silent	SNP	G	TCGA-20-1686-01A-01W-0633-09	28288408	83128001	72142559	74	9375											
TRMT2B	79979	genome.wustl.edu	37	X	100277031	100277033	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	CTT	CTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:100277031_100277033delCTT	ENST00000372936.3	-	9	1547_1549	c.775_777delAAG	c.(775-777)aagdel	p.K259del	TRMT2B_ENST00000372931.5_In_Frame_Del_p.K259del|TRMT2B_ENST00000545398.1_In_Frame_Del_p.K259del|TRMT2B_ENST00000372935.1_In_Frame_Del_p.K259del|TRMT2B_ENST00000372939.1_In_Frame_Del_p.K214del|TRMT2B_ENST00000338687.7_In_Frame_Del_p.K214del|TRMT2B_ENST00000478422.1_5'Flank	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	259						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TTACAATCTCCTTCTGAACATGG	0.443																																																0			X																																								100163689	SO:0001651	inframe_deletion	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.775_777delAAG	X.37:g.100277031_100277033delCTT	ENSP00000362027:p.Lys259del		100163687	A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	In_Frame_Del	DEL	ENST00000372936.3	37	CCDS14477.1																																																																																				0.443	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		-	100277033	CTT	-	100277031	7	5	166	1	0	1	0	1	0	0	0	0	16566	680	24	0	761	0	TRMT2B	23	100277031	In_Frame_Del	DEL	CTT	TCGA-20-1686-01A-01W-0633-09	17149030	100277031	54993529	75	9376											
IRS4	8471	genome.wustl.edu	37	X	107975867	107975869	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	GTC	GTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:107975867_107975869delGTC	ENST00000372129.2	-	1	3782_3784	c.3706_3708delGAC	c.(3706-3708)gacdel	p.D1236del	RP6-24A23.6_ENST00000563887.1_In_Frame_Del_p.D17del	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1236					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCACGTGAGTGTCGTCGTCGTTG	0.542																																																0			X																																								107862525	SO:0001651	inframe_deletion	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3706_3708delGAC	X.37:g.107975873_107975875delGTC	ENSP00000361202:p.Asp1236del		107862523		In_Frame_Del	DEL	ENST00000372129.2	37	CCDS14544.1																																																																																				0.542	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		-	107975869	GTC	-	107975867	7	5	166	1	0	1	0	1	0	0	0	0	7842	1368	48	0	69	0	IRS4	23	107975867	In_Frame_Del	DEL	GTC	TCGA-20-1686-01A-01W-0633-09	7698836	107975867	47294693	76	9377											
ACSL4	2182	genome.wustl.edu	37	X	108912275	108912275	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:108912275G>A	ENST00000469796.2	-	10	1649	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	ACSL4_ENST00000348502.6_Missense_Mutation_p.P377L|ACSL4_ENST00000340800.2_Missense_Mutation_p.P418L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	418					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	ATTGCAAAGAGGTGCATCATA	0.323																																					Pancreas(188;358 2127 38547 41466 45492)											0			X											144	136	139					X																	108912275		2203	4298	6501	108798931	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1253C>T	X.37:g.108912275G>A	ENSP00000419171:p.Pro418Leu		108798931	D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.172833	0.78452	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.37915	1.19;1.17;1.17	5.21	5.21	0.72293	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.54503	-0.8284	10	0.51188	T	0.08	-11.1451	18.1261	0.89586	0.0:0.0:1.0:0.0	.	418	O60488	ACSL4_HUMAN	L	377;418;418	ENSP00000262835:P377L;ENSP00000419171:P418L;ENSP00000339787:P418L	ENSP00000339787:P418L	P	-	2	0	ACSL4	108798931	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.809000	0.99208	2.303000	0.77524	0.597000	0.82753	CCT		0.323	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		A	108912275	G	A	108912275	3	1	166	1	0	0	0	0	1	0	0	0	179	1000	35	2	910	2	ACSL4	23	108912275	Missense_Mutation	SNP	G	TCGA-20-1686-01A-01W-0633-09	936408	108912275	46358285	77	9378											
SPANXN2	494119	genome.wustl.edu	37	X	142795577	142795577	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:142795577A>C	ENST00000370498.1	-	2	854	c.101T>G	c.(100-102)gTc>gGc	p.V34G		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	34										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGCTAAGACCCTGTTCGG	0.403																																																0			X											113	99	104					X																	142795577		2203	4300	6503	142623243	SO:0001583	missense	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.101T>G	X.37:g.142795577A>C	ENSP00000359529:p.Val34Gly		142623243	Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	A	0.338	-0.952093	0.02285	.	.	ENSG00000203924	ENST00000370498	T	0.07114	3.22	0.636	-1.27	0.09347	.	.	.	.	.	T	0.07683	0.0193	L	0.44542	1.39	0.09310	N	1	P	0.43542	0.81	P	0.45946	0.498	T	0.13845	-1.0494	8	0.33141	T	0.24	.	.	.	.	.	34	Q5MJ10	SPXN2_HUMAN	G	34	ENSP00000359529:V34G	ENSP00000359529:V34G	V	-	2	0	SPANXN2	142623243	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.429000	0.02437	-1.977000	0.00994	-1.111000	0.02071	GTC		0.403	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		C	142795577	A	C	142795577	3	2	166	1	0	0	0	0	1	0	0	0	14994	275	10	5	445	5	SPANXN2	23	142795577	Missense_Mutation	SNP	A	TCGA-20-1686-01A-01W-0633-09	33883302	142795577	12474983	78	9379											
CNGA2	1260	genome.wustl.edu	37	X	150906978	150906978	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:150906978T>C	ENST00000329903.4	+	1	56	c.23T>C	c.(22-24)gTg>gCg	p.V8A		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	8					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAATGGTGTGAAGAGCTCC	0.522																																																0			X											193	143	160					X																	150906978		2203	4300	6503	150657634	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.23T>C	X.37:g.150906978T>C	ENSP00000328478:p.Val8Ala		150657634	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	T	8.245	0.807768	0.16467	.	.	ENSG00000183862	ENST00000329903	D	0.97811	-4.55	4.85	4.85	0.62838	.	0.343585	0.27397	N	0.019546	D	0.90933	0.7150	N	0.08118	0	0.26623	N	0.972621	B	0.17268	0.021	B	0.13407	0.009	T	0.79351	-0.1839	10	0.06494	T	0.89	.	9.6231	0.39734	0.0:0.0:0.0:1.0	.	8	Q16280	CNGA2_HUMAN	A	8	ENSP00000328478:V8A	ENSP00000328478:V8A	V	+	2	0	CNGA2	150657634	1.000000	0.71417	0.990000	0.47175	0.035000	0.12851	4.655000	0.61476	1.794000	0.52575	0.486000	0.48141	GTG		0.522	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		C	150906978	T	C	150906978	3	2	166	1	0	0	0	0	1	0	0	0	3597	1696	59	4	25	4	CNGA2	23	150906978	Missense_Mutation	SNP	T	TCGA-20-1686-01A-01W-0633-09	8111401	150906978	4363582	79	9380											
G6PD	2539	genome.wustl.edu	37	X	153760854	153760854	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:153760854C>T	ENST00000393564.2	-	10	1327	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	G6PD_ENST00000393562.2_Missense_Mutation_p.M435I|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Missense_Mutation_p.M451I	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	405					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTCTTGGTCATCATCTTGG	0.582																																																0			X	GRCh37	CM950513	G6PD	M							106	91	96					X																	153760854		2203	4300	6503	153414048	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1215G>A	X.37:g.153760854C>T	ENSP00000377194:p.Met405Ile		153414048	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110573	0.37242	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99811	-6.87;-6.87;-6.87	5.82	5.82	0.92795	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99408	0.9791	M	0.84846	2.72	0.80722	D	1	B;P	0.35982	0.399;0.531	B;B	0.37144	0.242;0.203	D	0.99960	1.1717	10	0.33141	T	0.24	.	16.3143	0.82909	0.0:1.0:0.0:0.0	.	405;435	P11413;P11413-3	G6PD_HUMAN;.	I	435;405;405;451	ENSP00000377192:M435I;ENSP00000377194:M405I;ENSP00000358633:M451I	ENSP00000291567:M405I	M	-	3	0	G6PD	153414048	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.468000	0.60162	2.457000	0.83068	0.597000	0.82753	ATG		0.582	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		T	153760854	C	T	153760854	3	4	166	1	0	0	0	0	1	0	0	0	6146	826	29	2	348	2	G6PD	23	153760854	Missense_Mutation	SNP	C	TCGA-20-1686-01A-01W-0633-09	2853876	153760854	1509706	80	9381											
GNB1	2782	genome.wustl.edu	37	1	1735946	1735946	+	Silent	SNP	G	G	A	rs556077872		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr1:1735946G>A	ENST00000378609.4	-	7	673	c.342C>T	c.(340-342)tgC>tgT	p.C114C		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	114					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CCAGGCCACCGCAGGCCACAT	0.542																																																0			1											77	68	71					1																	1735946		2203	4300	6503	1725806	SO:0001819	synonymous_variant	2782			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.342C>T	1.37:g.1735946G>A			1725806	B1AJZ7|P04697|P04901|Q1RMY8	Silent	SNP	ENST00000378609.4	37	CCDS34.1																																																																																				0.542	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		A	1735946	G	A	1735946	2	1	167	1	0	0	0	0	0	0	0	1	6515	1079	38	1		1	GNB1	1	1735946	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09		1735946	247514675	1	9382											
MFSD2A	84879	genome.wustl.edu	37	1	40431658	40431658	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr1:40431658C>A	ENST00000372809.5	+	6	868	c.725C>A	c.(724-726)aCa>aAa	p.T242K	MFSD2A_ENST00000372811.5_Missense_Mutation_p.T229K|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.T73K	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	242					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCCAACCATACACATGGCACC	0.542																																																0			1											104	79	88					1																	40431658		2203	4300	6503	40204245	SO:0001583	missense	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.725C>A	1.37:g.40431658C>A	ENSP00000361895:p.Thr242Lys		40204245	A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653347	0.14580	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000434861;ENST00000372809	T	0.60920	0.15	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);	0.089581	0.85682	D	0.000000	T	0.71082	0.3298	M	0.75264	2.295	0.52501	D	0.999955	P;P;P	0.45634	0.863;0.775;0.835	P;P;B	0.52514	0.701;0.606;0.311	T	0.67241	-0.5720	10	0.33940	T	0.23	-12.5608	19.3475	0.94370	0.0:1.0:0.0:0.0	.	192;242;229	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	K	229;73;227;242	ENSP00000407606:T227K	ENSP00000361895:T242K	T	+	2	0	MFSD2A	40204245	0.990000	0.36364	0.529000	0.27951	0.007000	0.05969	3.666000	0.54540	2.816000	0.96949	0.563000	0.77884	ACA		0.542	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		A	40431658	C	A	40431658	3	1	167	1	0	0	0	0	1	0	0	0	9530	478	17	3	747	3	MFSD2A	1	40431658	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	38695712	40431658	208818963	2	9383											
KIAA0467	23334	genome.wustl.edu	37	1	43913778	43913778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr1:43913778C>T	ENST00000562955.1	+	68	9421	c.9421C>T	c.(9421-9423)Cag>Tag	p.Q3141*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.Q2299*|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3198					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTCACCAGCCAGCGAGAGCT	0.652																																																0			1											28	30	29					1																	43913778		2202	4300	6502	43686365	SO:0001587	stop_gained	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9421C>T	1.37:g.43913778C>T	ENSP00000457168:p.Gln3141*		43686365	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	50	16.546835	0.99866	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.28	5.28	0.74379	.	0.056729	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.9013	0.92443	0.0:1.0:0.0:0.0	.	.	.	.	X	2299	.	ENSP00000361519:Q2299X	Q	+	1	0	SZT2	43686365	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.350000	0.79385	2.462000	0.83206	0.563000	0.77884	CAG		0.652	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		T	43913778	C	T	43913778	4	4	167	1	0	0	0	0	0	1	0	0	8178	595	21	2	7101	2	KIAA0467	1	43913778	Nonsense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	3482120	43913778	205336843	3	9384											
PODN	127435	genome.wustl.edu	37	1	53544321	53544321	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr1:53544321G>A	ENST00000312553.5	+	8	1290	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	PODN_ENST00000395871.2_Missense_Mutation_p.R286H|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.R409H	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	380					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCCTGCCTCGCCGCGTGCGC	0.632																																																0			1											109	95	100					1																	53544321		2203	4300	6503	53316909	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1283G>A	1.37:g.53544321G>A	ENSP00000308315:p.Arg428His		53316909	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082203	0.76528	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.25250	3.57;1.81;2.2	4.81	4.81	0.61882	.	0.054653	0.64402	D	0.000001	T	0.46444	0.1393	L	0.49513	1.565	0.41184	D	0.986251	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.962;0.988;0.975	T	0.37842	-0.9688	10	0.48119	T	0.1	.	18.0614	0.89378	0.0:0.0:1.0:0.0	.	286;409;428	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	H	409;286;428	ENSP00000360555:R409H;ENSP00000379212:R286H;ENSP00000308315:R428H	ENSP00000308315:R428H	R	+	2	0	PODN	53316909	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.799000	0.85936	2.492000	0.84095	0.555000	0.69702	CGC		0.632	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		A	53544321	G	A	53544321	3	1	167	1	0	0	0	0	1	0	0	0	12178	1087	38	1	1313	1	PODN	1	53544321	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	9630543	53544321	195706300	4	9385											
WNT2B	7482	genome.wustl.edu	37	1	113059938	113059938	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr1:113059938C>T	ENST00000369684.4	+	4	1362	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R274C|WNT2B_ENST00000256640.5_Missense_Mutation_p.R201C	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	293					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTATCGCCGTGCCACCCG	0.582																																																0			1											55	52	53					1																	113059938		2203	4300	6503	112861461	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.877C>T	1.37:g.113059938C>T	ENSP00000358698:p.Arg293Cys		112861461	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066969	0.76301	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.76448	-1.02;-1.02;-1.02	5.53	4.56	0.56223	.	0.604077	0.18354	N	0.143788	T	0.82061	0.4955	M	0.88450	2.955	0.26713	N	0.970924	D;D	0.76494	0.994;0.999	P;P	0.58520	0.766;0.84	T	0.76146	-0.3066	10	0.72032	D	0.01	.	8.4006	0.32583	0.2931:0.5784:0.1285:0.0	.	293;274	Q93097;Q93097-2	WNT2B_HUMAN;.	C	201;274;293	ENSP00000256640:R201C;ENSP00000358700:R274C;ENSP00000358698:R293C	ENSP00000256640:R201C	R	+	1	0	WNT2B	112861461	0.902000	0.30710	1.000000	0.80357	0.994000	0.84299	1.967000	0.40491	2.599000	0.87857	0.555000	0.69702	CGT		0.582	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		T	113059938	C	T	113059938	3	4	167	1	0	0	0	0	1	0	0	0	17387	652	23	1	1024	1	WNT2B	1	113059938	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	59515617	113059938	136190683	5	9386											
NUP210L	91181	genome.wustl.edu	37	1	154101759	154101759	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr1:154101759A>T	ENST00000368559.3	-	8	1143	c.1072T>A	c.(1072-1074)Ttt>Att	p.F358I	NUP210L_ENST00000271854.3_Missense_Mutation_p.F358I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	358					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATACCTAAAAATCCAGGCTCT	0.343																																																0			1											122	115	117					1																	154101759		1856	4103	5959	152368383	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1072T>A	1.37:g.154101759A>T	ENSP00000357547:p.Phe358Ile		152368383	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.421024	0.62622	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05855	3.38;3.38	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000009	T	0.03011	0.0089	L	0.51422	1.61	0.35493	D	0.799147	P;B	0.35077	0.483;0.335	B;B	0.30943	0.122;0.086	T	0.45116	-0.9283	10	0.30854	T	0.27	-5.3819	13.2973	0.60305	1.0:0.0:0.0:0.0	.	358;358	E7EP56;Q5VU65	.;P210L_HUMAN	I	358	ENSP00000357547:F358I;ENSP00000271854:F358I	ENSP00000271854:F358I	F	-	1	0	NUP210L	152368383	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.705000	0.68355	2.149000	0.67028	0.460000	0.39030	TTT		0.343	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	154101759	A	T	154101759	3	4	167	1	0	0	0	0	1	0	0	0	10761	101	4	5	4726	5	NUP210L	1	154101759	Missense_Mutation	SNP	A	TCGA-20-1687-01A-01W-0633-09	41041821	154101759	95148862	6	9387											
IGSF9	57549	genome.wustl.edu	37	1	159904513	159904513	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr1:159904513G>A	ENST00000368094.1	-	7	970	c.773C>T	c.(772-774)aCc>aTc	p.T258I	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.T258I	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	258	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGCTGTAGGTGAGGTTAGC	0.537																																																0			1											121	98	106					1																	159904513		2203	4300	6503	158171137	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.773C>T	1.37:g.159904513G>A	ENSP00000357073:p.Thr258Ile		158171137		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812816	0.70912	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.12879	2.64;2.64	4.31	4.31	0.51392	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40144	N	0.001171	T	0.26376	0.0644	M	0.72624	2.21	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01326	-1.1384	9	.	.	.	-21.7525	14.3201	0.66479	0.0:0.0:1.0:0.0	.	258;258	Q9P2J2;C9JI81	TUTLA_HUMAN;.	I	258	ENSP00000355049:T258I;ENSP00000357073:T258I	.	T	-	2	0	IGSF9	158171137	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.259000	0.95561	2.222000	0.72286	0.491000	0.48974	ACC		0.537	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		A	159904513	G	A	159904513	3	1	167	1	0	0	0	0	1	0	0	0	7605	1261	44	2	2826	2	IGSF9	1	159904513	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	5802754	159904513	89346108	7	9388											
C1orf192	257177	genome.wustl.edu	37	1	161335454	161335454	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr1:161335454C>T	ENST00000367974.1	-	4	215	c.210G>A	c.(208-210)atG>atA	p.M70I	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	70										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCTTCAGAGGCATTTGCCAGG	0.502																																																0			1											115	125	121					1																	161335454		2203	4300	6503	159602078	SO:0001583	missense	257177				CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.210G>A	1.37:g.161335454C>T	ENSP00000356951:p.Met70Ile		159602078		Missense_Mutation	SNP	ENST00000367974.1	37	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887200	0.72410	.	.	ENSG00000188931	ENST00000367974	.	.	.	5.49	5.49	0.81192	.	0.066241	0.64402	D	0.000006	T	0.46833	0.1413	M	0.63843	1.955	0.28088	N	0.931902	P	0.46859	0.885	B	0.39805	0.31	T	0.59606	-0.7423	8	0.62326	D	0.03	-10.6418	17.2234	0.86963	0.0:1.0:0.0:0.0	.	70	Q5VTH2	CA192_HUMAN	I	70	.	ENSP00000356951:M70I	M	-	3	0	C1orf192	159602078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.196000	0.58407	2.735000	0.93741	0.655000	0.94253	ATG		0.502	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625		T	161335454	C	T	161335454	3	4	167	1	0	0	0	0	1	0	0	0	2024	710	25	2	331	2	C1orf192	1	161335454	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	1430941	161335454	87915167	8	9389											
NBAS	51594	genome.wustl.edu	37	2	15694261	15694261	+	Splice_Site	SNP	G	G	C			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr2:15694261G>C	ENST00000281513.5	-	4	236	c.211C>G	c.(211-213)Ccg>Gcg	p.P71A	NBAS_ENST00000441750.1_Splice_Site_p.P71A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	71					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAAGGTGCCGGGCTGAAATCA	0.368																																																0			2											76	76	76					2																	15694261		2203	4300	6503	15611712	SO:0001630	splice_region_variant	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.210-1C>G	2.37:g.15694261G>C			15611712	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	8.396	0.840795	0.16891	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.10860	2.83;2.89	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	L	0.54323	1.7	0.27473	N	0.952828	D	0.62365	0.991	P	0.51016	0.656	T	0.02294	-1.1181	10	0.87932	D	0	.	15.9282	0.79635	0.0:0.0:1.0:0.0	.	71	A2RRP1	NBAS_HUMAN	A	71	ENSP00000413201:P71A;ENSP00000281513:P71A	ENSP00000281513:P71A	P	-	1	0	NBAS	15611712	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	7.035000	0.76517	2.493000	0.84123	0.305000	0.20034	CCG		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	Missense_Mutation	C	15694261	G	C	15694261	5	2	167	1	0	0	0	0	0	0	1	0	10186	1246	43	3	7100	3	NBAS	2	15694261	Splice_Site	SNP	G	TCGA-20-1687-01A-01W-0633-09		15694261	227505112	9	9390											
ITSN2	50618	genome.wustl.edu	37	2	24533517	24533517	+	Missense_Mutation	SNP	G	G	C	rs144746035		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr2:24533517G>C	ENST00000355123.4	-	6	840	c.397C>G	c.(397-399)Cca>Gca	p.P133A	ITSN2_ENST00000361999.3_Missense_Mutation_p.P133A|ITSN2_ENST00000406921.3_Missense_Mutation_p.P133A|ITSN2_ENST00000407704.1_5'Flank	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	133					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCAGCTGGAGGCAATGGC	0.438																																																0			2											131	113	119					2																	24533517		2203	4300	6503	24387021	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.397C>G	2.37:g.24533517G>C	ENSP00000347244:p.Pro133Ala		24387021	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	0.915	-0.717804	0.03182	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.61392	0.14;0.11;0.14;0.56;0.73;1.26	5.27	3.4	0.38934	.	0.467044	0.15423	N	0.263101	T	0.35885	0.0947	N	0.12887	0.27	0.41967	D	0.990732	B;B;B;B	0.26363	0.033;0.033;0.147;0.024	B;B;B;B	0.31442	0.04;0.04;0.13;0.035	T	0.09729	-1.0661	10	0.28530	T	0.3	.	4.7826	0.13210	0.0733:0.3582:0.3669:0.2016	.	133;133;133;133	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	A	133;133;133;132;133;133;119	ENSP00000354561:P133A;ENSP00000347244:P133A;ENSP00000370250:P133A;ENSP00000384499:P133A;ENSP00000391224:P133A;ENSP00000391715:P119A	ENSP00000347244:P133A	P	-	1	0	ITSN2	24387021	0.904000	0.30761	0.998000	0.56505	0.960000	0.62799	-0.064000	0.11636	0.667000	0.31107	0.467000	0.42956	CCA		0.438	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		C	24533517	G	C	24533517	3	2	167	1	0	0	0	0	1	0	0	0	7927	1174	41	3	4887	3	ITSN2	2	24533517	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	8839256	24533517	218665856	10	9391											
SUPT7L	9913	genome.wustl.edu	37	2	27880482	27880482	+	Silent	SNP	G	G	C			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr2:27880482G>C	ENST00000337768.5	-	4	1043	c.474C>G	c.(472-474)ctC>ctG	p.L158L	SUPT7L_ENST00000406540.1_Silent_p.L156L|SUPT7L_ENST00000464789.2_Silent_p.L156L|SUPT7L_ENST00000405491.1_Silent_p.L156L|SUPT7L_ENST00000404798.2_Silent_p.L23L	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	158					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTGCCTGGTAGAGGAGCTGCC	0.532																																																0			2											36	38	37					2																	27880482		1998	4158	6156	27733986	SO:0001819	synonymous_variant	9913			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.474C>G	2.37:g.27880482G>C			27733986	B4E3W3|Q6IB21|Q9H2T6	Silent	SNP	ENST00000337768.5	37	CCDS42667.1																																																																																				0.532	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		C	27880482	G	C	27880482	2	2	167	1	0	0	0	0	0	0	0	1	15401	929	33	3		3	SUPT7L	2	27880482	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09	3346965	27880482	215318891	11	9392											
PLB1	151056	genome.wustl.edu	37	2	28843195	28843195	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr2:28843195T>C	ENST00000327757.5	+	47	3423	c.3379T>C	c.(3379-3381)Tgg>Cgg	p.W1127R	PLB1_ENST00000541605.1_Missense_Mutation_p.W92R|PLB1_ENST00000422425.2_Missense_Mutation_p.W1116R	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1127	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GGGACTCTCTTGGAGGTGAGG	0.502																																																0			2											85	78	81					2																	28843195		2203	4300	6503	28696699	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3379T>C	2.37:g.28843195T>C	ENSP00000330442:p.Trp1127Arg		28696699	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960089	0.34565	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605	T;T;T	0.13196	2.61;2.61;2.61	5.77	4.6	0.57074	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.191751	0.48767	D	0.000176	T	0.43233	0.1238	M	0.91300	3.195	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47711	-0.9096	10	0.66056	D	0.02	-11.6709	9.9697	0.41745	0.0:0.0:0.1705:0.8295	.	1116;1127	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	R	1127;1116;92	ENSP00000330442:W1127R;ENSP00000416440:W1116R;ENSP00000437426:W92R	ENSP00000330442:W1127R	W	+	1	0	PLB1	28696699	1.000000	0.71417	0.928000	0.36995	0.128000	0.20619	4.174000	0.58256	1.003000	0.39130	-0.466000	0.05196	TGG		0.502	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			C	28843195	T	C	28843195	3	2	167	1	0	0	0	0	1	0	0	0	12024	1812	63	4	3598	4	PLB1	2	28843195	Missense_Mutation	SNP	T	TCGA-20-1687-01A-01W-0633-09	962713	28843195	214356178	12	9393											
THADA	63892	genome.wustl.edu	37	2	43819135	43819135	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr2:43819135C>T	ENST00000405006.4	-	3	478	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	THADA_ENST00000415080.2_De_novo_Start_InFrame|THADA_ENST00000405975.2_Missense_Mutation_p.V43M|THADA_ENST00000403856.1_Missense_Mutation_p.V43M|THADA_ENST00000404790.1_Missense_Mutation_p.V43M|THADA_ENST00000402360.2_Missense_Mutation_p.V43M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	43										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTGAGTTGCACACAATGTAAC	0.318																																																0			2											58	55	56					2																	43819135		1851	4080	5931	43672639	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.127G>A	2.37:g.43819135C>T	ENSP00000385995:p.Val43Met		43672639	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400071	0.62177	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.37235	2.69;2.69;1.28;1.27;1.21	4.86	3.93	0.45458	.	0.325278	0.27851	N	0.017600	T	0.44705	0.1306	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.50443	0.935;0.859;0.813;0.883	P;P;P;B	0.51945	0.685;0.515;0.492;0.391	T	0.44772	-0.9306	10	0.66056	D	0.02	.	12.9797	0.58555	0.1606:0.8394:0.0:0.0	.	43;43;43;43	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	M	43	ENSP00000386088:V43M;ENSP00000385995:V43M;ENSP00000385441:V43M;ENSP00000384266:V43M;ENSP00000385469:V43M	ENSP00000349464:V43M	V	-	1	0	THADA	43672639	1.000000	0.71417	0.967000	0.41034	0.853000	0.48598	2.178000	0.42519	2.520000	0.84964	0.591000	0.81541	GTG		0.318	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		T	43819135	C	T	43819135	3	4	167	1	0	0	0	0	1	0	0	0	15840	478	17	2	5878	2	THADA	2	43819135	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	14975940	43819135	199380238	13	9394											
TTN	7273	genome.wustl.edu	37	2	179479650	179479650	+	Silent	SNP	G	G	A	rs529418633	byFrequency	TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr2:179479650G>A	ENST00000591111.1	-	210	43985	c.43761C>T	c.(43759-43761)cgC>cgT	p.R14587R	TTN_ENST00000342175.6_Silent_p.R7355R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.R7163R|TTN_ENST00000359218.5_Silent_p.R7288R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.R13660R|TTN_ENST00000589042.1_Silent_p.R16228R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14587	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCCTTCACGCGGTAGGCAT	0.438													G|||	2	0.000399361	0.0015	0	5008	,	,		18840	0		0	False		,,,				2504	0															0			2											109	99	102					2																	179479650		1937	4154	6091	179187895	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43761C>T	2.37:g.179479650G>A			179187895	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179479650	G	A	179479650	2	1	167	1	0	0	0	0	0	0	0	1	16735	1074	38	1		1	TTN	2	179479650	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09	135660515	179479650	63719723	14	9395											
DNAH7	56171	genome.wustl.edu	37	2	196822075	196822075	+	Silent	SNP	A	A	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr2:196822075A>T	ENST00000312428.6	-	19	3088	c.2988T>A	c.(2986-2988)tcT>tcA	p.S996S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	996	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAATGTCTGGAGAGCTGAAAA	0.473																																																0			2											87	81	83					2																	196822075		1885	4115	6000	196530320	SO:0001819	synonymous_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2988T>A	2.37:g.196822075A>T			196530320	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.473	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196822075	A	T	196822075	2	4	167	1	0	0	0	0	0	0	0	1	4606	291	11	5		5	DNAH7	2	196822075	Silent	SNP	A	TCGA-20-1687-01A-01W-0633-09	17342425	196822075	46377298	15	9396											
TATDN2	9797	genome.wustl.edu	37	3	10320069	10320069	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr3:10320069G>T	ENST00000287652.4	+	6	3119	c.2068G>T	c.(2068-2070)Gcc>Tcc	p.A690S	TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.A690S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	690					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGCCTGGGAGGCCCGGGAAGC	0.582																																																0			3											168	168	168					3																	10320069		2203	4300	6503	10295069	SO:0001583	missense	9797			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.2068G>T	3.37:g.10320069G>T	ENSP00000287652:p.Ala690Ser		10295069	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391906	0.83011	.	.	ENSG00000157014	ENST00000287652;ENST00000448281;ENST00000426850	T;T	0.24908	1.83;1.83	5.52	3.64	0.41730	.	0.376195	0.23303	U	0.049652	T	0.38983	0.1061	L	0.55834	1.745	0.38233	D	0.941095	P	0.48350	0.909	P	0.60609	0.877	T	0.27706	-1.0066	10	0.66056	D	0.02	-18.3013	8.8414	0.35144	0.0836:0.1532:0.7632:0.0	.	690	Q93075	TATD2_HUMAN	S	690;690;111	ENSP00000287652:A690S;ENSP00000408736:A690S	ENSP00000287652:A690S	A	+	1	0	TATDN2	10295069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.771000	0.55318	2.595000	0.87683	0.655000	0.94253	GCC		0.582	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		T	10320069	G	T	10320069	3	4	167	1	0	0	0	0	1	0	0	0	15592	1203	42	3	2086	3	TATDN2	3	10320069	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09		10320069	187702361	16	9397											
TDGF1	6997	genome.wustl.edu	37	3	46621296	46621296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr3:46621296C>A	ENST00000296145.5	+	4	1024	c.291C>A	c.(289-291)tgC>tgA	p.C97*	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Nonsense_Mutation_p.C81*	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	97	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTTGTGCCTGCCCTCCCTCCT	0.552																																																0			3											105	107	106					3																	46621296		2203	4300	6503	46596300	SO:0001587	stop_gained	6997			M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.291C>A	3.37:g.46621296C>A	ENSP00000296145:p.Cys97*		46596300	Q8TCC1	Nonsense_Mutation	SNP	ENST00000296145.5	37	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875473	0.33162	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	.	.	.	4.44	1.61	0.23674	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.267	0.20932	0.0:0.6822:0.0:0.3178	.	.	.	.	X	81;97	.	ENSP00000296145:C97X	C	+	3	2	AC104304.1	46596300	0.514000	0.26202	0.996000	0.52242	0.377000	0.30045	-0.480000	0.06559	0.598000	0.29829	-0.140000	0.14226	TGC		0.552	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2	NM_003212		A	46621296	C	A	46621296	4	1	167	1	0	0	0	0	0	1	0	0	15726	747	26	3	305	3	TDGF1	3	46621296	Nonsense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	36301227	46621296	151401134	17	9398											
MME	4311	genome.wustl.edu	37	3	154855931	154855931	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr3:154855931G>C	ENST00000460393.1	+	9	881	c.761G>C	c.(760-762)aGa>aCa	p.R254T	MME_ENST00000360490.2_Missense_Mutation_p.R254T|MME_ENST00000492661.1_Missense_Mutation_p.R254T|MME_ENST00000462745.1_Missense_Mutation_p.R254T|MME_ENST00000493237.1_Missense_Mutation_p.R254T	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	254					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TCTGTGGCCAGATTGATTCGT	0.353																																																0			3											161	166	165					3																	154855931		2203	4300	6503	156338625	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.761G>C	3.37:g.154855931G>C	ENSP00000418525:p.Arg254Thr		156338625	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	7.590	0.670656	0.14776	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.58	-5.18	0.02840	Peptidase M13 (1);	0.438594	0.27778	N	0.017896	T	0.28532	0.0706	N	0.01438	-0.865	0.34572	D	0.713522	B	0.06786	0.001	B	0.08055	0.003	T	0.08638	-1.0712	10	0.16896	T	0.51	-10.38	2.4871	0.04601	0.2923:0.2392:0.3523:0.1162	.	254	P08473	NEP_HUMAN	T	254	ENSP00000420389:R254T;ENSP00000418525:R254T;ENSP00000419653:R254T;ENSP00000417079:R254T;ENSP00000353679:R254T	ENSP00000353679:R254T	R	+	2	0	MME	156338625	0.999000	0.42202	0.784000	0.31847	0.774000	0.43823	0.967000	0.29344	-0.688000	0.05155	-0.302000	0.09304	AGA		0.353	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		C	154855931	G	C	154855931	3	2	167	1	0	0	0	0	1	0	0	0	9645	942	33	3	791	3	MME	3	154855931	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	108234635	154855931	43166499	18	9399											
FRAS1	80144	genome.wustl.edu	37	4	79399115	79399115	+	Silent	SNP	T	T	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr4:79399115T>A	ENST00000264895.6	+	55	8438	c.7998T>A	c.(7996-7998)atT>atA	p.I2666I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2662	Calx-beta 2.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGAAGGTCATTATCAACGATA	0.448																																																0			4											88	86	87					4																	79399115		1936	4152	6088	79618139	SO:0001819	synonymous_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7998T>A	4.37:g.79399115T>A			79618139	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	0.400	-0.918749	0.02396	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.69	-2.99	0.05497	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33059	-0.9883	4	.	.	.	.	2.8504	0.05555	0.1208:0.3863:0.1236:0.3692	.	.	.	.	N	895	.	.	Y	+	1	0	FRAS1	79618139	0.998000	0.40836	0.980000	0.43619	0.002000	0.02628	0.470000	0.22084	-0.370000	0.08016	-1.100000	0.02121	TAT		0.448	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79399115	T	A	79399115	2	1	167	1	0	0	0	0	0	0	0	1	6042	1742	61	5		5	FRAS1	4	79399115	Silent	SNP	T	TCGA-20-1687-01A-01W-0633-09		79399115	111755161	19	9400											
SEMA5A	9037	genome.wustl.edu	37	5	9237966	9237966	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr5:9237966C>T	ENST00000382496.5	-	6	972	c.307G>A	c.(307-309)Gcc>Acc	p.A103T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	103	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGTAACAGGCCTTTTTGGTA	0.378																																																0			5											311	242	265					5																	9237966		2203	4300	6503	9290966	SO:0001583	missense	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.307G>A	5.37:g.9237966C>T	ENSP00000371936:p.Ala103Thr		9290966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.26|12.26	1.883937|1.883937	0.33255|0.33255	.|.	.|.	ENSG00000112902|ENSG00000112902	ENST00000382496;ENST00000513968|ENST00000514923	T;T|.	0.11063|.	2.81;2.81|.	5.63|5.63	5.63|5.63	0.86233|0.86233	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33556|0.33556	0.0867|0.0867	N|N	0.02916|0.02916	-0.46|-0.46	0.53005|0.53005	D|D	0.999961|0.999961	P|.	0.47910|.	0.902|.	P|.	0.52957|.	0.714|.	T|T	0.31447|0.31447	-0.9943|-0.9943	10|5	0.12430|.	T|.	0.62|.	.|.	15.1747|15.1747	0.72901|0.72901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	103|.	Q13591|.	SEM5A_HUMAN|.	T|D	103|50	ENSP00000371936:A103T;ENSP00000421961:A103T|.	ENSP00000371936:A103T|.	A|G	-|-	1|2	0|0	SEMA5A|SEMA5A	9290966|9290966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	4.525000|4.525000	0.60559|0.60559	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.378	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9237966	C	T	9237966	3	4	167	1	0	0	0	0	1	0	0	0	14040	739	26	2	2989	2	SEMA5A	5	9237966	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09		9237966	171677294	20	9401											
KCNMB1	3779	genome.wustl.edu	37	5	169805842	169805842	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr5:169805842A>T	ENST00000274629.4	-	4	884	c.442T>A	c.(442-444)Ttc>Atc	p.F148I	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	148					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	AGGCGCTGGAATAGGACGCTG	0.617																																																0			5											88	84	85					5																	169805842		2203	4300	6503	169738420	SO:0001583	missense	3779			AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"Potassium channels"	6285	protein-coding gene	gene with protein product	"BK channel beta subunit"	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.442T>A	5.37:g.169805842A>T	ENSP00000274629:p.Phe148Ile		169738420	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255016	0.22965	.	.	ENSG00000145936	ENST00000274629	T	0.09445	2.98	5.3	3.93	0.45458	.	0.749194	0.12758	N	0.441564	T	0.06600	0.0169	N	0.14661	0.345	0.21627	N	0.999613	B	0.16802	0.019	B	0.19148	0.024	T	0.34153	-0.9840	9	.	.	.	.	9.4065	0.38464	0.9006:0.0:0.0994:0.0	.	148	Q16558	KCMB1_HUMAN	I	148	ENSP00000274629:F148I	.	F	-	1	0	KCNMB1	169738420	1.000000	0.71417	0.038000	0.18304	0.033000	0.12548	3.427000	0.52785	1.988000	0.58038	0.477000	0.44152	TTC		0.617	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			T	169805842	A	T	169805842	3	4	167	1	0	0	0	0	1	0	0	0	8074	101	4	5	137	5	KCNMB1	5	169805842	Missense_Mutation	SNP	A	TCGA-20-1687-01A-01W-0633-09	160567876	169805842	11109418	21	9402											
TRIM10	10107	genome.wustl.edu	37	6	30128543	30128543	+	Silent	SNP	G	G	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr6:30128543G>A	ENST00000449742.2	-	1	168	c.93C>T	c.(91-93)tgC>tgT	p.C31C	TRIM15_ENST00000376688.1_5'Flank|TRIM15_ENST00000376694.4_5'Flank|TRIM10_ENST00000376704.3_Silent_p.C31C	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	31					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						AGTTGTGGCCGCAGTCGATAG	0.612																																																0			6											76	80	79					6																	30128543		2203	4300	6503	30236522	SO:0001819	synonymous_variant	10107			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.93C>T	6.37:g.30128543G>A			30236522	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	CCDS34375.1																																																																																				0.612	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			A	30128543	G	A	30128543	2	1	167	1	0	0	0	0	0	0	0	1	16486	1079	38	1		1	TRIM10	6	30128543	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09		30128543	140986524	22	9403											
DNAH8	1769	genome.wustl.edu	37	6	38810570	38810570	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr6:38810570G>T	ENST00000359357.3	+	33	4339	c.4085G>T	c.(4084-4086)tGg>tTg	p.W1362L	DNAH8_ENST00000449981.2_Missense_Mutation_p.W1579L|DNAH8_ENST00000441566.1_Missense_Mutation_p.W1362L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1362					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAGACACTGGGATAGAATC	0.393																																																0			6											127	118	121					6																	38810570		2203	4300	6503	38918548	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4085G>T	6.37:g.38810570G>T	ENSP00000352312:p.Trp1362Leu		38918548	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.230783	0.79688	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73047	-0.71;-0.71;-0.71	5.12	5.12	0.69794	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	H	0.98901	4.365	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.94168	0.7420	10	0.87932	D	0	.	18.9269	0.92549	0.0:0.0:1.0:0.0	.	1362	Q96JB1	DYH8_HUMAN	L	1567;1567;1362;1362	ENSP00000333363:W1567L;ENSP00000352312:W1362L;ENSP00000402294:W1362L	ENSP00000333363:W1567L	W	+	2	0	DNAH8	38918548	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.813000	0.99286	2.532000	0.85374	0.557000	0.71058	TGG		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38810570	G	T	38810570	3	4	167	1	0	0	0	0	1	0	0	0	4607	1357	47	3	4207	3	DNAH8	6	38810570	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	8682027	38810570	132304497	23	9404											
MEP1A	4224	genome.wustl.edu	37	6	46777232	46777232	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr6:46777232A>G	ENST00000230588.4	+	6	347	c.338A>G	c.(337-339)tAt>tGt	p.Y113C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	113	Metalloprotease.				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)			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)			TTCAAGCCCTATGAAGGAGAG	0.383																																																0			6											159	156	157					6																	46777232		2203	4300	6503	46885191	SO:0001583	missense	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.338A>G	6.37:g.46777232A>G	ENSP00000230588:p.Tyr113Cys		46885191	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963244	0.74016	.	.	ENSG00000112818	ENST00000230588	T	0.63580	-0.05	5.76	5.76	0.90799	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.89353	3.025	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83873	0.0275	10	0.72032	D	0.01	-25.4376	16.3786	0.83431	1.0:0.0:0.0:0.0	.	141;113	B7ZL91;Q16819	.;MEP1A_HUMAN	C	113	ENSP00000230588:Y113C	ENSP00000230588:Y113C	Y	+	2	0	MEP1A	46885191	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.701000	0.68325	2.323000	0.78572	0.528000	0.53228	TAT		0.383	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		G	46777232	A	G	46777232	3	3	167	1	0	0	0	0	1	0	0	0	9475	449	16	4	360	4	MEP1A	6	46777232	Missense_Mutation	SNP	A	TCGA-20-1687-01A-01W-0633-09	7966662	46777232	124337835	24	9405											
DST	667	genome.wustl.edu	37	6	56481168	56481168	+	Missense_Mutation	SNP	T	T	G			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr6:56481168T>G	ENST00000370765.6	-	24	7204	c.7097A>C	c.(7096-7098)tAt>tCt	p.Y2366S	DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1696					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGTTCAAGATATATACTTTT	0.363																																																0			6											69	70	70					6																	56481168		2203	4300	6503	56589127	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7097A>C	6.37:g.56481168T>G	ENSP00000359801:p.Tyr2366Ser		56589127	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058230	0.55325	.	.	ENSG00000151914	ENST00000370765	T	0.69040	-0.37	5.92	5.92	0.95590	.	.	.	.	.	T	0.79879	0.4522	.	.	.	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82946	-0.0205	7	0.72032	D	0.01	.	16.3636	0.83296	0.0:0.0:0.0:1.0	.	2366	Q03001-3	.	S	2366	ENSP00000359801:Y2366S	ENSP00000359801:Y2366S	Y	-	2	0	DST	56589127	1.000000	0.71417	0.358000	0.25811	0.907000	0.53573	8.040000	0.89188	2.267000	0.75376	0.528000	0.53228	TAT		0.363	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		G	56481168	T	G	56481168	3	3	167	1	0	0	0	0	1	0	0	0	4783	1406	49	5	13302	5	DST	6	56481168	Missense_Mutation	SNP	T	TCGA-20-1687-01A-01W-0633-09	9703936	56481168	114633899	25	9406											
GTF2IRD2B	389524	genome.wustl.edu	37	7	74564880	74564880	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr7:74564880C>T	ENST00000312575.7	+	16	2802	c.2627C>T	c.(2626-2628)aCg>aTg	p.T876M	GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.T423M	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	876					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						caatgcaacacggtcctgaag	0.498																																																0			7											1	1	1					7																	74564880		716	1531	2247	74202816	SO:0001583	missense	389524			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.2627C>T	7.37:g.74564880C>T	ENSP00000308080:p.Thr876Met		74202816	B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	ENST00000312575.7	37	CCDS34659.1	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736409	0.15574	.	.	ENSG00000174428	ENST00000312575;ENST00000418185;ENST00000412484	T;T	0.21031	2.03;2.03	1.66	0.688	0.18027	Ribonuclease H-like (1);	.	.	.	.	T	0.18130	0.0435	L	0.58101	1.795	0.30318	N	0.787839	B;B	0.24258	0.005;0.1	B;B	0.11329	0.006;0.005	T	0.16424	-1.0403	9	0.59425	D	0.04	-20.6594	5.0198	0.14356	0.352:0.648:0.0:0.0	.	371;876	Q86Y00;Q6EKJ0	.;GTD2B_HUMAN	M	876;423;291	ENSP00000308080:T876M;ENSP00000411454:T423M	ENSP00000308080:T876M	T	+	2	0	GTF2IRD2B	74202816	0.499000	0.26083	0.969000	0.41365	0.864000	0.49448	0.194000	0.17135	0.234000	0.21139	0.537000	0.68136	ACG		0.498	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	NM_001003795		T	74564880	C	T	74564880	3	4	167	1	0	0	0	0	1	0	0	0	6870	536	19	1	2685	1	GTF2IRD2B	7	74564880	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09		74564880	84573783	26	9407											
RSBN1L	222194	genome.wustl.edu	37	7	77408240	77408240	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr7:77408240C>G	ENST00000334955.8	+	8	2323	c.2296C>G	c.(2296-2298)Cct>Gct	p.P766A	RSBN1L_ENST00000445288.1_Missense_Mutation_p.P496A	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	766						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGGAAGAACCTGTGAATGT	0.318																																																0			7											69	65	66					7																	77408240		1835	4089	5924	77246176	SO:0001583	missense	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2296C>G	7.37:g.77408240C>G	ENSP00000334040:p.Pro766Ala		77246176	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458288	0.26248	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.84	0.463	0.16700	.	0.481828	0.22343	N	0.061319	T	0.29684	0.0741	L	0.51422	1.61	0.27721	N	0.94514	B	0.10296	0.003	B	0.08055	0.003	T	0.17107	-1.0380	9	0.49607	T	0.09	-0.0753	3.1574	0.06509	0.2225:0.4471:0.2048:0.1256	.	766	Q6PCB5	RSBNL_HUMAN	A	766;496	.	ENSP00000334040:P766A	P	+	1	0	RSBN1L	77246176	0.022000	0.18835	0.947000	0.38551	0.996000	0.88848	-0.206000	0.09398	0.348000	0.23949	0.591000	0.81541	CCT		0.318	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		G	77408240	C	G	77408240	3	3	167	1	0	0	0	0	1	0	0	0	13700	507	18	3	2326	3	RSBN1L	7	77408240	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	2843360	77408240	81730423	27	9408											
ZFHX4	79776	genome.wustl.edu	37	8	77617160	77617160	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr8:77617160G>T	ENST00000521891.2	+	2	1285	c.837G>T	c.(835-837)atG>atT	p.M279I	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M279I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M279I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M279I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGTTTTAATGTGTTTCTTGT	0.438										HNSCC(33;0.089)																																						0			8											275	263	267					8																	77617160		2063	4240	6303	77779715	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.837G>T	8.37:g.77617160G>T	ENSP00000430497:p.Met279Ile		77779715	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426944	0.25726	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.73047	-0.71;-0.65;-0.68;-0.71	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);	0.000000	0.53938	U	0.000049	D	0.85256	0.5655	M	0.80422	2.495	0.80722	D	1	P;D;D;D	0.58268	0.936;0.962;0.962;0.982	P;D;D;D	0.68943	0.885;0.946;0.946;0.961	D	0.86039	0.1518	10	0.72032	D	0.01	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	279;279;279;279	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	I	279	ENSP00000430497:M279I;ENSP00000399605:M279I;ENSP00000050961:M279I;ENSP00000430848:M279I	ENSP00000050961:M279I	M	+	3	0	ZFHX4	77779715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.882000	0.98803	0.655000	0.94253	ATG		0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77617160	G	T	77617160	3	4	167	1	0	0	0	0	1	0	0	0	17635	1377	48	3	839	3	ZFHX4	8	77617160	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09		77617160	68746862	28	9409											
RAD21	5885	genome.wustl.edu	37	8	117878869	117878869	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr8:117878869C>G	ENST00000297338.2	-	2	387	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	34					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AAATTACACTCGAACACATGG	0.398																																																0			8											86	76	80					8																	117878869		2203	4300	6503	117948050	SO:0001583	missense	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.100G>C	8.37:g.117878869C>G	ENSP00000297338:p.Glu34Gln		117948050	A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341452	0.41498	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.83	4.94	0.65067	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	L	0.49778	1.585	0.80722	D	1	D	0.54397	0.966	D	0.63283	0.913	T	0.29027	-1.0025	10	0.09338	T	0.73	-4.5353	16.8122	0.85724	0.0:0.8711:0.1289:0.0	.	34	O60216	RAD21_HUMAN	Q	34	ENSP00000297338:E34Q;ENSP00000429342:E34Q;ENSP00000427923:E34Q;ENSP00000430524:E34Q;ENSP00000428158:E34Q	ENSP00000297338:E34Q	E	-	1	0	RAD21	117948050	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.818000	0.86416	1.429000	0.47314	0.563000	0.77884	GAG		0.398	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		G	117878869	C	G	117878869	3	3	167	1	0	0	0	0	1	0	0	0	12984	893	31	3	1847	3	RAD21	8	117878869	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	40261709	117878869	28485153	29	9410											
SLC30A8	169026	genome.wustl.edu	37	8	118183397	118183397	+	Missense_Mutation	SNP	T	T	G			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr8:118183397T>G	ENST00000456015.2	+	7	954	c.954T>G	c.(952-954)caT>caG	p.H318Q	SLC30A8_ENST00000427715.2_Missense_Mutation_p.H269Q|SLC30A8_ENST00000519688.1_Missense_Mutation_p.H269Q|SLC30A8_ENST00000521243.1_Missense_Mutation_p.H269Q	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	318					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCTCAGCTCATGTTGCTACAG	0.433																																					Ovarian(162;1202 1922 6011 16223 52092)											0			8											182	169	174					8																	118183397		2203	4300	6503	118252578	SO:0001583	missense	169026				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.954T>G	8.37:g.118183397T>G	ENSP00000415011:p.His318Gln		118252578	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673902	0.67928	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.97	-2.63	0.06133	.	0.103470	0.64402	D	0.000003	T	0.75398	0.3844	H	0.94886	3.595	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.72912	-0.4148	10	0.87932	D	0	-10.7098	5.2574	0.15553	0.0:0.3434:0.296:0.3606	.	318	Q8IWU4	ZNT8_HUMAN	Q	269;269;269;318	ENSP00000428545:H269Q;ENSP00000407505:H269Q;ENSP00000431069:H269Q;ENSP00000415011:H318Q	ENSP00000407505:H269Q	H	+	3	2	SLC30A8	118252578	0.290000	0.24343	0.981000	0.43875	0.988000	0.76386	-0.275000	0.08525	-0.240000	0.09696	-0.250000	0.11733	CAT		0.433	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		G	118183397	T	G	118183397	3	3	167	1	0	0	0	0	1	0	0	0	14564	1461	51	5	980	5	SLC30A8	8	118183397	Missense_Mutation	SNP	T	TCGA-20-1687-01A-01W-0633-09	304528	118183397	28180625	30	9411											
SLC45A4	57210	genome.wustl.edu	37	8	142222392	142222392	+	Silent	SNP	G	G	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr8:142222392G>A	ENST00000024061.3	-	7	2359	c.2052C>T	c.(2050-2052)gcC>gcT	p.A684A	SLC45A4_ENST00000517878.1_Silent_p.A735A|SLC45A4_ENST00000519067.1_Silent_p.A684A|SLC45A4_ENST00000433583.2_Silent_p.A677A	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGCCTTCGCCGGCCAACGGGG	0.632																																																0			8											39	38	38					8																	142222392		2201	4300	6501	142291574	SO:0001819	synonymous_variant	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2052C>T	8.37:g.142222392G>A			142291574	Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	CCDS34948.1																																																																																				0.632	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		A	142222392	G	A	142222392	2	1	167	1	0	0	0	0	0	0	0	1	14646	1103	39	1		1	SLC45A4	8	142222392	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09	24038995	142222392	4141630	31	9412											
FAM22F	54754	genome.wustl.edu	37	9	97081161	97081161	+	Silent	SNP	A	A	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr9:97081161A>T	ENST00000253262.4	-	7	1877	c.1857T>A	c.(1855-1857)ccT>ccA	p.P619P	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Silent_p.P604P	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	619																	ACTCCTTGACAGGAGACTCTC	0.642																																																0			9											7	6	6					9																	97081161		1725	3840	5565	96120982	SO:0001819	synonymous_variant	54754				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1857T>A	9.37:g.97081161A>T			96120982	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	CCDS47994.1																																																																																				0.642	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		T	97081161	A	T	97081161	2	4	167	1	0	0	0	0	0	0	0	1	5545	175	7	5		5	FAM22F	9	97081161	Silent	SNP	A	TCGA-20-1687-01A-01W-0633-09		97081161	44132270	32	9413											
GRIN3A	116443	genome.wustl.edu	37	9	104433307	104433307	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr9:104433307A>T	ENST00000361820.3	-	3	1987	c.1387T>A	c.(1387-1389)Ttt>Att	p.F463I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	463					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CAGATGAAAAAGTTGTTTTCT	0.483																																																0			9											149	152	151					9																	104433307		2203	4300	6503	103473128	SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1387T>A	9.37:g.104433307A>T	ENSP00000355155:p.Phe463Ile		103473128	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325567	0.41197	.	.	ENSG00000198785	ENST00000361820	D	0.86627	-2.15	5.76	5.76	0.90799	.	0.318671	0.30809	N	0.008822	D	0.89157	0.6635	M	0.71036	2.16	0.41882	D	0.990323	P	0.38420	0.63	B	0.43867	0.434	D	0.89788	0.3966	10	0.56958	D	0.05	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	463	Q8TCU5	NMD3A_HUMAN	I	463	ENSP00000355155:F463I	ENSP00000355155:F463I	F	-	1	0	GRIN3A	103473128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.275000	0.72594	2.324000	0.78689	0.533000	0.62120	TTT		0.483	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104433307	A	T	104433307	3	4	167	1	0	0	0	0	1	0	0	0	6783	72	3	5	1988	5	GRIN3A	9	104433307	Missense_Mutation	SNP	A	TCGA-20-1687-01A-01W-0633-09	7352146	104433307	36780124	33	9414											
PBLD	64081	genome.wustl.edu	37	10	70048420	70048420	+	Splice_Site	SNP	T	T	G			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr10:70048420T>G	ENST00000358769.2	-	8	715		c.e8-2		PBLD_ENST00000495025.2_Splice_Site|PBLD_ENST00000309049.4_Splice_Site|PBLD_ENST00000432941.1_Splice_Site|PBLD_ENST00000336578.1_Splice_Site	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing						biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGAAACGACCTTGTTCATAAA	0.473																																																0			10											80	73	76					10																	70048420		2203	4300	6503	69718426	SO:0001630	splice_region_variant	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.513-2A>C	10.37:g.70048420T>G			69718426	A8MZJ3|C9JIM0|Q9HCC2	Splice_Site	SNP	ENST00000358769.2	37	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262355	0.39995	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0671	0.59041	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBLD	69718426	1.000000	0.71417	0.916000	0.36221	0.444000	0.32077	5.553000	0.67287	1.978000	0.57642	0.460000	0.39030	.		0.473	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129	Intron	G	70048420	T	G	70048420	5	3	167	1	0	0	0	0	0	0	1	0	11489	1623	56	5	456	5	PBLD	10	70048420	Splice_Site	SNP	T	TCGA-20-1687-01A-01W-0633-09		70048420	65486327	34	9415											
MYST4	23522	genome.wustl.edu	37	10	76748864	76748864	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr10:76748864G>A	ENST00000287239.4	+	13	3112	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	KAT6B_ENST00000372711.1_Missense_Mutation_p.D692N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D583N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D583N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D583N|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	875	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTTTCTCATTGATTTCAGTAA	0.398																																																0			10											117	117	117					10																	76748864		2203	4300	6503	76418870	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2623G>A	10.37:g.76748864G>A	ENSP00000287239:p.Asp875Asn		76418870	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077939	0.76528	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79352	-1.24;-1.24;-1.26;-1.24;-1.25	5.85	5.85	0.93711	.	0.000000	0.51477	D	0.000085	D	0.89392	0.6702	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.997	P;D;D	0.91635	0.847;0.999;0.938	D	0.89768	0.3952	10	0.87932	D	0	-14.6475	20.1354	0.98024	0.0:0.0:1.0:0.0	.	692;583;875	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	583;583;875;583;692	ENSP00000361810:D583N;ENSP00000361809:D583N;ENSP00000287239:D875N;ENSP00000361799:D583N;ENSP00000361796:D692N	ENSP00000287239:D875N	D	+	1	0	KAT6B	76418870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.756000	0.94617	0.650000	0.86243	GAT		0.398	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		A	76748864	G	A	76748864	3	1	167	1	0	0	0	0	1	0	0	0	10105	1290	45	2	2665	2	MYST4	10	76748864	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	6700444	76748864	58785883	35	9416											
NHLRC2	374354	genome.wustl.edu	37	10	115657951	115657951	+	Silent	SNP	C	C	G			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr10:115657951C>G	ENST00000369301.3	+	6	1334	c.1122C>G	c.(1120-1122)ggC>ggG	p.G374G		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	374										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TGGACTCTGGCAAACTGCCAA	0.403																																																0			10											37	38	38					10																	115657951		2203	4300	6503	115647941	SO:0001819	synonymous_variant	374354			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1122C>G	10.37:g.115657951C>G			115647941	Q8N1H1|Q8N5A6	Silent	SNP	ENST00000369301.3	37	CCDS7585.1																																																																																				0.403	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		G	115657951	C	G	115657951	2	3	167	1	0	0	0	0	0	0	0	1	10406	697	25	3		3	NHLRC2	10	115657951	Silent	SNP	C	TCGA-20-1687-01A-01W-0633-09	38909087	115657951	19876796	36	9417											
KRTAP5-4	387267	genome.wustl.edu	37	11	1643006	1643006	+	Silent	SNP	G	G	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr11:1643006G>A	ENST00000399682.1	-	1	362	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G106G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAGCCCCCACAGG	0.682																																																1	Substitution - coding silent(1)	kidney(1)	11											6	14	11					11																	1643006		642	1507	2149	1599582	SO:0001819	synonymous_variant	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.318C>T	11.37:g.1643006G>A			1599582		Silent	SNP	ENST00000399682.1	37																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		A	1643006	G	A	1643006	2	1	167	1	0	0	0	0	0	0	0	1	8563	958	34	2		2	KRTAP5-4	11	1643006	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09		1643006	133363510	37	9418											
ANO5	203859	genome.wustl.edu	37	11	22272532	22272532	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr11:22272532C>A	ENST00000324559.8	+	12	1472	c.1155C>A	c.(1153-1155)ttC>ttA	p.F385L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	385					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAACAGTGTTCTTTGCAATAT	0.303																																																0			11											87	85	85					11																	22272532		2203	4300	6503	22229108	SO:0001583	missense	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1155C>A	11.37:g.22272532C>A	ENSP00000315371:p.Phe385Leu		22229108		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216591	0.79352	.	.	ENSG00000171714	ENST00000324559	T	0.62498	0.02	5.61	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.58810	1.83	0.58432	D	0.999999	P	0.45902	0.868	P	0.47346	0.544	T	0.58086	-0.7698	10	0.40728	T	0.16	.	6.2842	0.21023	0.0:0.6684:0.0:0.3316	.	385	Q75V66	ANO5_HUMAN	L	385	ENSP00000315371:F385L	ENSP00000315371:F385L	F	+	3	2	ANO5	22229108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.457000	0.35212	1.360000	0.45960	0.557000	0.71058	TTC		0.303	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		A	22272532	C	A	22272532	3	1	167	1	0	0	0	0	1	0	0	0	700	912	32	3	1201	3	ANO5	11	22272532	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	20629526	22272532	112733984	38	9419											
LPXN	9404	genome.wustl.edu	37	11	58295525	58295525	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr11:58295525A>T	ENST00000395074.2	-	8	970	c.882T>A	c.(880-882)ttT>ttA	p.F294L	LPXN_ENST00000528489.1_Missense_Mutation_p.F274L|LPXN_ENST00000528954.1_Missense_Mutation_p.F299L	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	294	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCCCACAAACAAAGCACTCTG	0.483																																																0			11											111	111	111					11																	58295525		2201	4295	6496	58052101	SO:0001583	missense	9404			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.882T>A	11.37:g.58295525A>T	ENSP00000378512:p.Phe294Leu		58052101	B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220607	0.79464	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.92199	-2.99;-2.99	5.39	1.77	0.24775	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94291	0.8166	M	0.70275	2.135	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.993	D	0.92681	0.6158	10	0.87932	D	0	.	8.2357	0.31625	0.6814:0.0:0.3186:0.0	.	274;299;294	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	L	299;294	ENSP00000431284:F299L;ENSP00000378512:F294L	ENSP00000378512:F294L	F	-	3	2	LPXN	58052101	0.960000	0.32886	1.000000	0.80357	0.894000	0.52154	0.236000	0.17967	0.378000	0.24764	0.383000	0.25322	TTT		0.483	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		T	58295525	A	T	58295525	3	4	167	1	0	0	0	0	1	0	0	0	8929	127	5	5	286	5	LPXN	11	58295525	Missense_Mutation	SNP	A	TCGA-20-1687-01A-01W-0633-09	36022993	58295525	76710991	39	9420											
TECTA	7007	genome.wustl.edu	37	11	121000814	121000814	+	Missense_Mutation	SNP	G	G	T	rs371290564		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr11:121000814G>T	ENST00000392793.1	+	10	3106	c.2835G>T	c.(2833-2835)caG>caT	p.Q945H	TECTA_ENST00000264037.2_Missense_Mutation_p.Q945H			O75443	TECTA_HUMAN	tectorin alpha	945					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTGTGCCAGAGTGGGGGCA	0.612																																																0			11											63	61	62					11																	121000814		2203	4299	6502	120506024	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2835G>T	11.37:g.121000814G>T	ENSP00000376543:p.Gln945His		120506024		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107190	0.56291	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76839	-1.05;-1.05	5.78	4.86	0.63082	Uncharacterised domain, cysteine-rich (2);	0.133759	0.53938	D	0.000054	T	0.78610	0.4310	L	0.31207	0.915	0.32305	N	0.564471	D	0.67145	0.996	D	0.66847	0.947	T	0.80540	-0.1337	10	0.40728	T	0.16	.	9.4956	0.38986	0.2126:0.0:0.7874:0.0	.	945	O75443	TECTA_HUMAN	H	945	ENSP00000376543:Q945H;ENSP00000264037:Q945H	ENSP00000264037:Q945H	Q	+	3	2	TECTA	120506024	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.331000	0.33793	1.441000	0.47550	0.650000	0.86243	CAG		0.612	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	121000814	G	T	121000814	3	4	167	1	0	0	0	0	1	0	0	0	15747	933	33	3	2869	3	TECTA	11	121000814	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	62705289	121000814	14005702	40	9421											
COL4A1	1282	genome.wustl.edu	37	13	110827047	110827047	+	Missense_Mutation	SNP	T	T	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr13:110827047T>A	ENST00000375820.4	-	38	3369	c.3248A>T	c.(3247-3249)gAa>gTa	p.E1083V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1083	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTTCCTTTTTCTCCCTTCTC	0.532																																																0			13											127	138	134					13																	110827047		2203	4300	6503	109625048	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3248A>T	13.37:g.110827047T>A	ENSP00000364979:p.Glu1083Val		109625048	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602868	0.46423	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.96745	-4.11	5.8	5.8	0.92144	.	0.318283	0.33023	N	0.005376	D	0.96423	0.8833	L	0.48877	1.53	0.80722	D	1	P	0.37370	0.592	P	0.51516	0.672	D	0.95641	0.8698	10	0.34782	T	0.22	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	1083	P02462	CO4A1_HUMAN	V	726;1083;732	ENSP00000364979:E1083V	ENSP00000364973:E726V	E	-	2	0	COL4A1	109625048	0.882000	0.30256	0.995000	0.50966	0.878000	0.50629	2.167000	0.42415	2.209000	0.71365	0.533000	0.62120	GAA		0.532	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			A	110827047	T	A	110827047	3	1	167	1	0	0	0	0	1	0	0	0	3689	1783	62	5	1821	5	COL4A1	13	110827047	Missense_Mutation	SNP	T	TCGA-20-1687-01A-01W-0633-09		110827047	4342831	41	9422											
FLJ10357	55701	genome.wustl.edu	37	14	21542964	21542964	+	Nonsense_Mutation	SNP	G	G	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr14:21542964G>T	ENST00000298694.4	+	3	1202	c.1075G>T	c.(1075-1077)Gga>Tga	p.G359*	ARHGEF40_ENST00000298693.3_Nonsense_Mutation_p.G359*			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	359	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TAGAGGAGGAGGAGGAGGAGG	0.627																																																0			14											30	28	28					14																	21542964		2203	4299	6502	20612804	SO:0001587	stop_gained	55701				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1075G>T	14.37:g.21542964G>T	ENSP00000298694:p.Gly359*		20612804	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Nonsense_Mutation	SNP	ENST00000298694.4	37	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	g	37	6.012658	0.97200	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	.	.	.	4.92	4.0	0.46444	.	0.810801	0.10722	N	0.641575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	11.3266	0.49452	0.0:0.1843:0.8157:0.0	.	.	.	.	X	359	.	ENSP00000298693:G359X	G	+	1	0	ARHGEF40	20612804	0.101000	0.21875	0.171000	0.22900	0.847000	0.48162	1.124000	0.31320	1.158000	0.42547	0.462000	0.41574	GGA		0.627	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			T	21542964	G	T	21542964	4	4	167	1	0	0	0	0	0	1	0	0	5926	1001	35	3	1085	3	FLJ10357	14	21542964	Nonsense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09		21542964	85806576	42	9423											
SYNE2	23224	genome.wustl.edu	37	14	64416695	64416695	+	Silent	SNP	T	T	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr14:64416695T>A	ENST00000344113.4	+	7	773	c.561T>A	c.(559-561)ctT>ctA	p.L187L	SYNE2_ENST00000341472.5_Silent_p.L187L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Silent_p.L187L|SYNE2_ENST00000358025.3_Silent_p.L187L|SYNE2_ENST00000554584.1_Silent_p.L187L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	187	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAGGCCCTTCTTTTGTGGG	0.488																																																0			14											145	145	145					14																	64416695		2026	4192	6218	63486448	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.561T>A	14.37:g.64416695T>A			63486448	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.488	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64416695	T	A	64416695	2	1	167	1	0	0	0	0	0	0	0	1	15446	1770	62	5		5	SYNE2	14	64416695	Silent	SNP	T	TCGA-20-1687-01A-01W-0633-09	42873731	64416695	42932845	43	9424											
CATSPERB	79820	genome.wustl.edu	37	14	92191511	92191511	+	Splice_Site	SNP	A	A	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr14:92191511A>T	ENST00000256343.3	-	3	237	c.81T>A	c.(79-81)gaT>gaA	p.D27E		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	27					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCTCTGTATCATCTAAATAAT	0.289																																																0			14											36	35	35					14																	92191511		2201	4296	6497	91261264	SO:0001630	splice_region_variant	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.80-1T>A	14.37:g.92191511A>T			91261264	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	A	9.766	1.171491	0.21704	.	.	ENSG00000133962	ENST00000256343;ENST00000553329;ENST00000554560;ENST00000556661;ENST00000553676	T	0.41758	0.99	4.38	4.38	0.52667	.	0.532997	0.15510	N	0.258570	T	0.21186	0.0510	N	0.08118	0	0.19300	N	0.999976	B	0.18310	0.027	B	0.17098	0.017	T	0.14671	-1.0464	10	0.12103	T	0.63	.	10.1535	0.42809	1.0:0.0:0.0:0.0	.	27	Q9H7T0	CTSRB_HUMAN	E	27	ENSP00000256343:D27E	ENSP00000256343:D27E	D	-	3	2	CATSPERB	91261264	0.038000	0.19896	0.522000	0.27862	0.076000	0.17211	2.248000	0.43160	1.965000	0.57142	0.477000	0.44152	GAT		0.289	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	Missense_Mutation	T	92191511	A	T	92191511	5	4	167	1	0	0	0	0	0	0	1	0	2691	231	8	5	3369	5	CATSPERB	14	92191511	Splice_Site	SNP	A	TCGA-20-1687-01A-01W-0633-09	27774816	92191511	15158029	44	9425											
UNC13C	440279	genome.wustl.edu	37	15	54435870	54435870	+	Silent	SNP	G	G	A	rs373493676		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr15:54435870G>A	ENST00000260323.11	+	3	3060	c.3060G>A	c.(3058-3060)caG>caA	p.Q1020Q	UNC13C_ENST00000537900.1_Silent_p.Q1020Q|UNC13C_ENST00000545554.1_Silent_p.Q1020Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1020					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGCACTCCAGGTGTGTGGTG	0.383																																																0			15											164	154	157					15																	54435870		1891	4112	6003	52223162	SO:0001819	synonymous_variant	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3060G>A	15.37:g.54435870G>A			52223162	Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	CCDS45264.1																																																																																				0.383	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54435870	G	A	54435870	2	1	167	1	0	0	0	0	0	0	0	1	16986	991	35	2		2	UNC13C	15	54435870	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09		54435870	48095522	45	9426											
DIS3L	115752	genome.wustl.edu	37	15	66610931	66610931	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr15:66610931G>C	ENST00000319212.4	+	8	1189	c.1139G>C	c.(1138-1140)aGc>aCc	p.S380T	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319194.5_Missense_Mutation_p.S297T	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	380					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTCGAATTAGCACTCAGCAA	0.443																																																0			15											88	86	86					15																	66610931		2201	4299	6500	64397985	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1139G>C	15.37:g.66610931G>C	ENSP00000321711:p.Ser380Thr		64397985	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229392	0.39399	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.29397	1.57;1.57	3.95	3.01	0.34805	.	0.248376	0.44483	D	0.000448	T	0.25680	0.0625	L	0.45137	1.4	0.80722	D	1	B;B	0.33266	0.134;0.404	B;B	0.36335	0.07;0.222	T	0.03000	-1.1084	10	0.15952	T	0.53	-6.2877	12.1512	0.54051	0.0:0.0:0.8277:0.1723	.	380;380	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	T	297;380	ENSP00000321583:S297T;ENSP00000321711:S380T	ENSP00000321583:S297T	S	+	2	0	DIS3L	64397985	1.000000	0.71417	0.721000	0.30653	0.926000	0.56050	9.190000	0.94934	0.951000	0.37770	0.591000	0.81541	AGC		0.443	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		C	66610931	G	C	66610931	3	2	167	1	0	0	0	0	1	0	0	0	4536	971	34	3	1169	3	DIS3L	15	66610931	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	12175061	66610931	35920461	46	9427											
CHRNA3	1136	genome.wustl.edu	37	15	78893961	78893961	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr15:78893961C>A	ENST00000326828.5	-	5	1407	c.1023G>T	c.(1021-1023)tgG>tgT	p.W341C	CHRNA3_ENST00000348639.3_Missense_Mutation_p.W341C	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	341					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CAGTCTTCACCCATGAGGGCA	0.537																																																0			15											145	134	138					15																	78893961		2196	4293	6489	76681016	SO:0001583	missense	1136				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1023G>T	15.37:g.78893961C>A	ENSP00000315602:p.Trp341Cys		76681016	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101152	0.56183	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.74632	-0.86;-0.86	6.02	6.02	0.97574	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90256	0.6953	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91125	0.4933	10	0.66056	D	0.02	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	341;341	P32297;P32297-3	ACHA3_HUMAN;.	C	341;341;205	ENSP00000267951:W341C;ENSP00000315602:W341C	ENSP00000315602:W341C	W	-	3	0	CHRNA3	76681016	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	7.795000	0.85887	2.865000	0.98341	0.655000	0.94253	TGG		0.537	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			A	78893961	C	A	78893961	3	1	167	1	0	0	0	0	1	0	0	0	3384	624	22	3	587	3	CHRNA3	15	78893961	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	12283030	78893961	23637431	47	9428											
ARNT2	9915	genome.wustl.edu	37	15	80800525	80800525	+	Silent	SNP	G	G	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr15:80800525G>A	ENST00000303329.4	+	6	816	c.651G>A	c.(649-651)acG>acA	p.T217T	ARNT2_ENST00000527771.1_Silent_p.T206T|ARNT2_ENST00000533983.1_Silent_p.T206T	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	217					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGACTGGGACGGTCAAGAAAG	0.572																																																0			15											123	100	108					15																	80800525		2203	4300	6503	78587580	SO:0001819	synonymous_variant	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.651G>A	15.37:g.80800525G>A			78587580	B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	CCDS32307.1																																																																																				0.572	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			A	80800525	G	A	80800525	2	1	167	1	0	0	0	0	0	0	0	1	966	1103	39	1		1	ARNT2	15	80800525	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09	1906564	80800525	21730867	48	9429											
CHD2	1106	genome.wustl.edu	37	15	93510584	93510584	+	Missense_Mutation	SNP	A	A	C	rs111669316		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr15:93510584A>C	ENST00000394196.4	+	17	3098	c.2030A>C	c.(2029-2031)gAc>gCc	p.D677A	CHD2_ENST00000557381.1_Missense_Mutation_p.D677A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	677					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTGAAGAAGACCATGGGAAG	0.393																																																0			15											49	49	49					15																	93510584		2197	4298	6495	91311588	SO:0001583	missense	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2030A>C	15.37:g.93510584A>C	ENSP00000377747:p.Asp677Ala		91311588	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442961	0.43326	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.92446	-3.04;-3.04	5.83	5.83	0.93111	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.35466	U	0.003191	D	0.88444	0.6438	L	0.33137	0.985	0.80722	D	1	B;B	0.21071	0.051;0.022	B;B	0.23150	0.044;0.01	D	0.84723	0.0741	10	0.48119	T	0.1	-23.4	16.1946	0.82018	1.0:0.0:0.0:0.0	.	677;677	O14647;O14647-2	CHD2_HUMAN;.	A	677	ENSP00000377747:D677A;ENSP00000451366:D677A	ENSP00000377747:D677A	D	+	2	0	CHD2	91311588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.065000	0.71176	2.228000	0.72767	0.528000	0.53228	GAC		0.393	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		C	93510584	A	C	93510584	3	2	167	1	0	0	0	0	1	0	0	0	3325	275	10	5	2096	5	CHD2	15	93510584	Missense_Mutation	SNP	A	TCGA-20-1687-01A-01W-0633-09	12710059	93510584	9020808	49	9430											
ADCY9	115	genome.wustl.edu	37	16	4164387	4164387	+	Missense_Mutation	SNP	C	C	G	rs369684993		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr16:4164387C>G	ENST00000294016.3	-	2	1595	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	353					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTCACTCTCCTCATCTCCC	0.478																																																0			16											174	163	167					16																	4164387		2197	4300	6497	4104388	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1057G>C	16.37:g.4164387C>G	ENSP00000294016:p.Glu353Gln		4104388	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356280	0.61293	.	.	ENSG00000162104	ENST00000294016	D	0.83506	-1.73	5.57	5.57	0.84162	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.054044	0.64402	D	0.000001	D	0.82637	0.5080	L	0.53249	1.67	0.58432	D	0.999994	P	0.46706	0.883	B	0.42827	0.399	T	0.83291	-0.0033	10	0.46703	T	0.11	.	19.6034	0.95572	0.0:1.0:0.0:0.0	.	353	O60503	ADCY9_HUMAN	Q	353	ENSP00000294016:E353Q	ENSP00000294016:E353Q	E	-	1	0	ADCY9	4104388	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.655000	0.90218	0.555000	0.69702	GAG		0.478	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			G	4164387	C	G	4164387	3	3	167	1	0	0	0	0	1	0	0	0	301	864	30	3	3044	3	ADCY9	16	4164387	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09		4164387	86190366	50	9431											
C16orf71	146562	genome.wustl.edu	37	16	4787851	4787851	+	Silent	SNP	C	C	A	rs200644126		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr16:4787851C>A	ENST00000299320.5	+	3	658	c.180C>A	c.(178-180)tcC>tcA	p.S60S	C16orf71_ENST00000590191.1_Silent_p.S60S|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	60										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACCAAACCTCCCTGATTCCAG	0.587																																																0			16											81	78	79					16																	4787851		2197	4300	6497	4727852	SO:0001819	synonymous_variant	146562			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.180C>A	16.37:g.4787851C>A			4727852	Q8NCV0	Silent	SNP	ENST00000299320.5	37	CCDS10521.1																																																																																				0.587	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		A	4787851	C	A	4787851	2	1	167	1	0	0	0	0	0	0	0	1	1830	610	22	3		3	C16orf71	16	4787851	Silent	SNP	C	TCGA-20-1687-01A-01W-0633-09	623464	4787851	85566902	51	9432											
HYDIN	54768	genome.wustl.edu	37	16	70913548	70913548	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr16:70913548A>C	ENST00000393567.2	-	61	10477	c.10327T>G	c.(10327-10329)Tac>Gac	p.Y3443D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3443					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGCACTGGTAGTTCTGCATG	0.552																																																0			16											28	35	33					16																	70913548		1926	4141	6067	69471049	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10327T>G	16.37:g.70913548A>C	ENSP00000377197:p.Tyr3443Asp		69471049	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390182	0.82902	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01359	4.98	5.19	5.19	0.71726	.	0.000000	0.30742	U	0.008968	T	0.08846	0.0219	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.00904	-1.1520	10	0.66056	D	0.02	.	14.7274	0.69354	1.0:0.0:0.0:0.0	.	3442	F8WD23	.	D	3443;3442	ENSP00000377197:Y3443D	ENSP00000313052:Y3442D	Y	-	1	0	HYDIN	69471049	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.518000	0.90559	1.955000	0.56771	0.418000	0.28097	TAC		0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			C	70913548	A	C	70913548	3	2	167	1	0	0	0	0	1	0	0	0	7467	420	15	5	5142	5	HYDIN	16	70913548	Missense_Mutation	SNP	A	TCGA-20-1687-01A-01W-0633-09	66125697	70913548	19441205	52	9433											
CRISPLD2	83716	genome.wustl.edu	37	16	84914162	84914162	+	Missense_Mutation	SNP	C	C	T	rs369151118		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr16:84914162C>T	ENST00000262424.5	+	13	1501	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P425L|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.P426L	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	426	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TACTGGGCTCCGGTGTTTGGA	0.448													C|||	1	0.000199681	0	0	5008	,	,		16015	0		0	False		,,,				2504	0.001															0			16						C	LEU/PRO	1,4397	2.1+/-5.4	0,1,2198	160	150	154		1277	4.3	0.5	16		154	0,8600		0,0,4300	no	missense	CRISPLD2	NM_031476.3	98	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	426/498	84914162	1,12997	2199	4300	6499	83471663	SO:0001583	missense	83716			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.1277C>T	16.37:g.84914162C>T	ENSP00000262424:p.Pro426Leu		83471663	D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465233	0.63513	2.27E-4	0.0	ENSG00000103196	ENST00000262424	D	0.89050	-2.46	5.25	4.28	0.50868	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	N	0.21508	0.67	0.80722	D	1	D;D	0.63046	0.985;0.992	P;P	0.55345	0.774;0.747	D	0.87657	0.2532	10	0.51188	T	0.08	.	13.5714	0.61849	0.0:0.8427:0.1573:0.0	.	426;426	Q9H0B8;Q9H0B8-2	CRLD2_HUMAN;.	L	426	ENSP00000262424:P426L	ENSP00000262424:P426L	P	+	2	0	CRISPLD2	83471663	1.000000	0.71417	0.543000	0.28128	0.548000	0.35241	6.815000	0.75242	1.175000	0.42826	0.655000	0.94253	CCG		0.448	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		T	84914162	C	T	84914162	3	4	167	1	0	0	0	0	1	0	0	0	3883	652	23	1	1323	1	CRISPLD2	16	84914162	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	14000614	84914162	5440591	53	9434											
ZZEF1	23140	genome.wustl.edu	37	17	3999985	3999985	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr17:3999985G>A	ENST00000381638.2	-	10	1806	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	561							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCCAGTTTCCGTAAGAAAACC	0.368																																																0			17											72	79	77					17																	3999985		2203	4300	6503	3946734	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1682C>T	17.37:g.3999985G>A	ENSP00000371051:p.Thr561Met		3946734	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711586	0.89112	.	.	ENSG00000074755	ENST00000381638	T	0.34667	1.35	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51872	-0.8650	10	0.87932	D	0	-14.9521	19.2507	0.93923	0.0:0.0:1.0:0.0	.	561;561	O43149-3;O43149	.;ZZEF1_HUMAN	M	561	ENSP00000371051:T561M	ENSP00000371051:T561M	T	-	2	0	ZZEF1	3946734	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.898000	0.92538	2.868000	0.98415	0.555000	0.69702	ACG		0.368	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		A	3999985	G	A	3999985	3	1	167	1	0	0	0	0	1	0	0	0	18255	1145	40	1	7387	1	ZZEF1	17	3999985	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09		3999985	77195225	54	9435											
USP6	9098	genome.wustl.edu	37	17	5072322	5072322	+	Silent	SNP	C	C	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr17:5072322C>A	ENST00000574788.1	+	35	5719	c.3489C>A	c.(3487-3489)ctC>ctA	p.L1163L	USP6_ENST00000250066.6_Silent_p.L1163L|USP6_ENST00000304328.5_Silent_p.L846L|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1163	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATCCTCACTCAGCGCTAACA	0.522			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0			17											41	40	41					17																	5072322		2203	4300	6503	5013046	SO:0001819	synonymous_variant	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3489C>A	17.37:g.5072322C>A			5013046	Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																				0.522	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		A	5072322	C	A	5072322	2	1	167	1	0	0	0	0	0	0	0	1	17086	813	29	3		3	USP6	17	5072322	Silent	SNP	C	TCGA-20-1687-01A-01W-0633-09	1072337	5072322	76122888	55	9436											
TP53	7157	genome.wustl.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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"	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	17											50	52	51					17																	7578461		2202	4300	6502	7519186	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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe		7519186	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578461	C	A	7578461	3	1	167	1	0	0	0	0	1	0	0	0	16381	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	2506139	7578461	73616749	56	9437											
CDRT1	374286	genome.wustl.edu	37	17	15517314	15517314	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr17:15517314G>A	ENST00000395906.3	-	3	703	c.704C>T	c.(703-705)tCc>tTc	p.S235F	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.S545F	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	235										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ATTCATTTCGGATATACACCG	0.483																																																0			17											43	82	69					17																	15517314		2180	4293	6473	15458039	SO:0001583	missense	374286			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.704C>T	17.37:g.15517314G>A	ENSP00000379242:p.Ser235Phe		15458039	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.727262|2.727262	0.48833|0.48833	.|.	.|.	ENSG00000251537|ENSG00000251537	ENST00000455584|ENST00000261644;ENST00000395906	T|T	0.57273|0.31247	0.41|1.5	4.82|4.82	2.76|2.76	0.32466|0.32466	.|.	.|0.168569	.|0.28230	.|N	.|0.016116	T|T	0.36717|0.36717	0.0977|0.0977	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.999999|0.999999	.|D;P	.|0.60575	.|0.988;0.917	.|P;P	.|0.50440	.|0.641;0.548	T|T	0.19192|0.19192	-1.0313|-1.0313	6|10	.|0.72032	.|D	.|0.01	.|.	8.213|8.213	0.31494|0.31494	0.0:0.1717:0.6502:0.1781|0.0:0.1717:0.6502:0.1781	.|.	.|235;559	.|O95170;Q59EB2	.|CDRT1_HUMAN;.	S|F	560|235	ENSP00000402644:P560S|ENSP00000379242:S235F	.|ENSP00000261644:S235F	P|S	-|-	1|2	0|0	RP11-385D13.1|RP11-385D13.1	15458039|15458039	0.083000|0.083000	0.21467|0.21467	0.013000|0.013000	0.15412|0.15412	0.021000|0.021000	0.10359|0.10359	0.670000|0.670000	0.25157|0.25157	0.697000|0.697000	0.31718|0.31718	0.484000|0.484000	0.47621|0.47621	CCG|TCC		0.483	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		A	15517314	G	A	15517314	3	1	167	1	0	0	0	0	1	0	0	0	3174	1174	41	2	1594	2	CDRT1	17	15517314	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	7938853	15517314	65677896	57	9438											
RFFL	117584	genome.wustl.edu	37	17	33353479	33353479	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr17:33353479G>T	ENST00000315249.7	-	2	316	c.94C>A	c.(94-96)Cct>Act	p.P32T	RFFL_ENST00000378516.2_Missense_Mutation_p.P32T|RFFL_ENST00000447669.2_Missense_Mutation_p.P32T|RFFL_ENST00000394597.2_Missense_Mutation_p.P32T|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Missense_Mutation_p.P32T|RFFL_ENST00000413582.2_Missense_Mutation_p.P32T|RFFL_ENST00000584655.1_Missense_Mutation_p.P32T|RFFL_ENST00000415395.2_Missense_Mutation_p.P32T					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTGTACCCAGGGTTGGAATAG	0.577																																																0			17											79	61	67					17																	33353479		2203	4300	6503	30377592	SO:0001583	missense	117584			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.94C>A	17.37:g.33353479G>T	ENSP00000326170:p.Pro32Thr		30377592		Missense_Mutation	SNP	ENST00000315249.7	37	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831679	0.50845	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395;ENST00000414419;ENST00000447669	T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.21	4.2	0.49525	Zinc finger, FYVE/PHD-type (1);	0.061070	0.64402	D	0.000001	T	0.72542	0.3473	N	0.20685	0.6	0.42198	D	0.991751	D;P;D;D	0.89917	1.0;0.952;0.97;1.0	D;P;P;D	0.87578	0.998;0.644;0.471;0.998	T	0.68985	-0.5265	10	0.31617	T	0.26	-8.6524	8.0976	0.30837	0.0794:0.0:0.7624:0.1581	.	32;32;32;32	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	T	32	ENSP00000326170:P32T;ENSP00000378096:P32T;ENSP00000367777:P32T;ENSP00000268850:P32T;ENSP00000408513:P32T;ENSP00000412322:P32T;ENSP00000395090:P32T;ENSP00000389832:P32T	ENSP00000268850:P32T	P	-	1	0	RFFL	30377592	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.636000	0.61339	2.711000	0.92665	0.650000	0.86243	CCT		0.577	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		T	33353479	G	T	33353479	3	4	167	1	0	0	0	0	1	0	0	0	13253	1232	43	3	1021	3	RFFL	17	33353479	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09	17836165	33353479	47841731	58	9439											
KRT36	8689	genome.wustl.edu	37	17	39645949	39645949	+	Silent	SNP	G	G	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr17:39645949G>T	ENST00000328119.6	-	1	167	c.168C>A	c.(166-168)ctC>ctA	p.L56L	KRT36_ENST00000393986.2_Silent_p.L6L	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	56	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAAGGCCAGAGAGGCCCGACC	0.642																																																0			17											66	72	70					17																	39645949		2203	4300	6503	36899475	SO:0001819	synonymous_variant	8689			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.168C>A	17.37:g.39645949G>T			36899475	Q86XG4	Silent	SNP	ENST00000328119.6	37	CCDS11395.1																																																																																				0.642	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		T	39645949	G	T	39645949	2	4	167	1	0	0	0	0	0	0	0	1	8473	929	33	3		3	KRT36	17	39645949	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09	6292470	39645949	41549261	59	9440											
CYB561	1534	genome.wustl.edu	37	17	61514758	61514770	+	Frame_Shift_Del	DEL	TGAACTGCAGGTC	TGAACTGCAGGTC	-	rs527806618		TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	TGAACTGCAGGTC	TGAACTGCAGGTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr17:61514758_61514770delTGAACTGCAGGTC	ENST00000392976.1	-	2	438_450	c.139_151delGACCTGCAGTTCA	c.(139-153)gacctgcagttcaacfs	p.DLQFN47fs	CYB561_ENST00000582034.1_Frame_Shift_Del_p.DLQFN18fs|CYB561_ENST00000392975.2_Frame_Shift_Del_p.DLQFN47fs|CYB561_ENST00000581163.1_5'Flank|CYB561_ENST00000582997.1_Frame_Shift_Del_p.DLQFN54fs|CYB561_ENST00000581573.1_Frame_Shift_Del_p.DLQFN47fs|CYB561_ENST00000360793.3_Frame_Shift_Del_p.DLQFN47fs|CYB561_ENST00000448884.2_Frame_Shift_Del_p.DLQFN47fs|CYB561_ENST00000584031.1_Frame_Shift_Del_p.DLQFN47fs|CYB561_ENST00000582297.1_Frame_Shift_Del_p.DLQFN47fs|CYB561_ENST00000542042.1_Frame_Shift_Del_p.DLQFN114fs	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	47	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGGTGCGCGTTGAACTGCAGGTCGCTCTCCCAG	0.648																																																0			17																																								58868502	SO:0001589	frameshift_variant	1534				CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"Cytochrome b genes"	2571	protein-coding gene	gene with protein product	"ferric-chelate reductase 2", "cytochrome b561 family, member A1"	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.139_151delGACCTGCAGTTCA	17.37:g.61514758_61514770delTGAACTGCAGGTC	ENSP00000376702:p.Asp47fs		58868490	B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Frame_Shift_Del	DEL	ENST00000392976.1	37	CCDS11636.1																																																																																				0.648	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		-	61514770	TGAACTGCAGGTC	-	61514758	7	5	167	1	0	1	0	1	0	0	0	0	4119	1812	63	0	624	0	CYB561	17	61514758	Frame_Shift_Del	DEL	TGAACTGCAGGTC	TCGA-20-1687-01A-01W-0633-09	21868809	61514758	19680452	60	9441											
LASS4	79603	genome.wustl.edu	37	19	8316031	8316031	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr19:8316031A>T	ENST00000251363.5	+	3	371	c.71A>T	c.(70-72)gAg>gTg	p.E24V	CERS4_ENST00000559336.1_Missense_Mutation_p.E24V|CERS4_ENST00000558331.1_5'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.E24V|CERS4_ENST00000595722.1_Intron	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	24					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACGTGGACAGAGCTAGAAGAC	0.592																																																0			19											234	233	234					19																	8316031		2203	4300	6503	8222031	SO:0001583	missense	79603				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.71A>T	19.37:g.8316031A>T	ENSP00000251363:p.Glu24Val		8222031	D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	A	6.278	0.419349	0.11928	.	.	ENSG00000090661	ENST00000251363	T	0.69561	-0.41	4.22	-0.698	0.11280	.	0.662303	0.14659	N	0.306099	T	0.48978	0.1530	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.34950	-0.9808	10	0.66056	D	0.02	0.7691	5.0142	0.14328	0.3756:0.1598:0.0:0.4647	.	24;24	Q53HF9;Q9HA82	.;CERS4_HUMAN	V	24	ENSP00000251363:E24V	ENSP00000251363:E24V	E	+	2	0	CERS4	8222031	0.140000	0.22579	0.001000	0.08648	0.022000	0.10575	2.143000	0.42187	-0.653000	0.05401	0.377000	0.23210	GAG		0.592	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		T	8316031	A	T	8316031	3	4	167	1	0	0	0	0	1	0	0	0	8641	304	11	5	73	5	LASS4	19	8316031	Missense_Mutation	SNP	A	TCGA-20-1687-01A-01W-0633-09		8316031	50812952	61	9442											
PRKACA	5566	genome.wustl.edu	37	19	14208295	14208295	+	Splice_Site	SNP	C	C	G			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr19:14208295C>G	ENST00000308677.4	-	8	839	c.643G>C	c.(643-645)Ggc>Cgc	p.G215R	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Splice_Site_p.G207R	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TTGTTGTAGCCCTGGAGCAAG	0.637																																																0			19											30	34	33					19																	14208295		2203	4300	6503	14069295	SO:0001630	splice_region_variant	5566				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.643-1G>C	19.37:g.14208295C>G			14069295	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339785	0.81911	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.66280	-0.2	4.54	4.54	0.55810	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	0.41938	U	0.000792	T	0.73187	0.3555	L	0.46741	1.465	0.50467	D	0.999873	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76564	-0.2913	10	0.87932	D	0	.	14.7756	0.69729	0.0:1.0:0.0:0.0	.	157;215;207	B7Z708;P17612;P17612-2	.;KAPCA_HUMAN;.	R	215;207;215;157	ENSP00000309591:G215R	ENSP00000309591:G215R	G	-	1	0	PRKACA	14069295	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	7.596000	0.82721	2.054000	0.61138	0.591000	0.81541	GGC		0.637	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730	Missense_Mutation	G	14208295	C	G	14208295	5	3	167	1	0	0	0	0	0	0	1	0	12500	637	22	3	424	3	PRKACA	19	14208295	Splice_Site	SNP	C	TCGA-20-1687-01A-01W-0633-09	5892264	14208295	44920688	62	9443											
OR7C2	26658	genome.wustl.edu	37	19	15052654	15052654	+	Silent	SNP	G	G	A	rs139952516	byFrequency	TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr19:15052654G>A	ENST00000248072.3	+	1	354	c.354G>A	c.(352-354)acG>acA	p.T118T		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	118			T -> M (in dbSNP:rs8113325).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TGACCATGACGGCCTATGACC	0.507													.|||	12	0.00239617	0	0.0159	5008	,	,		19805	0		0.001	False		,,,				2504	0															0			19						G		0,4406		0,0,2203	94	87	89		354	3.2	0.9	19	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR7C2	NM_012377.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		118/320	15052654	2,13004	2203	4300	6503	14913654	SO:0001819	synonymous_variant	26658			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.354G>A	19.37:g.15052654G>A			14913654	O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	CCDS12320.1																																																																																				0.507	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			A	15052654	G	A	15052654	2	1	167	1	0	0	0	0	0	0	0	1	11218	1103	39	1		1	OR7C2	19	15052654	Silent	SNP	G	TCGA-20-1687-01A-01W-0633-09	844359	15052654	44076329	63	9444											
IL12RB1	3594	genome.wustl.edu	37	19	18183147	18183147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr19:18183147C>A	ENST00000600835.2	-	10	1094	c.796G>T	c.(796-798)Gag>Tag	p.E266*	IL12RB1_ENST00000322153.7_Nonsense_Mutation_p.E266*|IL12RB1_ENST00000593993.2_Nonsense_Mutation_p.E266*			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	266	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TCTGGAAGCTCCAGCTGGGTT	0.577																																																0			19											41	38	39					19																	18183147		2203	4300	6503	18044147	SO:0001587	stop_gained	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.796G>T	19.37:g.18183147C>A	ENSP00000470788:p.Glu266*		18044147	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Nonsense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551943	0.65311	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	.	.	.	4.51	-0.642	0.11486	.	1.126930	0.06874	N	0.801323	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.9949	5.6291	0.17499	0.0:0.4615:0.3427:0.1958	.	.	.	.	X	266	.	ENSP00000314425:E266X	E	-	1	0	IL12RB1	18044147	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.229000	0.17833	0.060000	0.16281	-0.291000	0.09656	GAG		0.577	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			A	18183147	C	A	18183147	4	1	167	1	0	0	0	0	0	1	0	0	7626	864	30	3	1357	3	IL12RB1	19	18183147	Nonsense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	3130493	18183147	40945836	64	9445											
ZNF256	10172	genome.wustl.edu	37	19	58454000	58454000	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr19:58454000C>A	ENST00000282308.3	-	3	372	c.176G>T	c.(175-177)gGg>gTg	p.G59V	ZNF256_ENST00000598928.1_Missense_Mutation_p.G17W	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CTCCTCATCCCCTGCTCCAGA	0.522																																					NSCLC(55;1313 1552 8040 11996)											0			19											83	84	84					19																	58454000		2202	4295	6497	63145812	SO:0001583	missense	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.176G>T	19.37:g.58454000C>A	ENSP00000282308:p.Gly59Val		63145812	B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	7.133	0.580281	0.13686	.	.	ENSG00000152454	ENST00000282308	T	0.06768	3.26	3.04	1.93	0.25924	Krueppel-associated box (3);	.	.	.	.	T	0.04588	0.0125	N	0.12182	0.205	0.09310	N	0.999999	B	0.19583	0.037	B	0.17722	0.019	T	0.39440	-0.9614	9	0.46703	T	0.11	.	4.9268	0.13898	0.0:0.1461:0.0:0.8539	.	59	Q9Y2P7	ZN256_HUMAN	V	59	ENSP00000282308:G59V	ENSP00000282308:G59V	G	-	2	0	ZNF256	63145812	0.000000	0.05858	0.003000	0.11579	0.283000	0.27025	-1.101000	0.03336	0.563000	0.29222	-0.670000	0.03821	GGG		0.522	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			A	58454000	C	A	58454000	3	1	167	1	0	0	0	0	1	0	0	0	17799	623	22	3	1711	3	ZNF256	19	58454000	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	40270853	58454000	674983	65	9446											
MC3R	4159	genome.wustl.edu	37	20	54824013	54824013	+	Silent	SNP	C	C	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr20:54824013C>T	ENST00000243911.2	+	1	226	c.114C>T	c.(112-114)gtC>gtT	p.V38V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	38					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.V75V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GTGAGCAGGTCTTCATCAAGC	0.582																																																1	Substitution - coding silent(1)	lung(1)	20											122	110	114					20																	54824013		2203	4300	6503	54257420	SO:0001819	synonymous_variant	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.114C>T	20.37:g.54824013C>T			54257420	Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	CCDS13449.2																																																																																				0.582	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			T	54824013	C	T	54824013	2	4	167	1	0	0	0	0	0	0	0	1	9365	900	32	2		2	MC3R	20	54824013	Silent	SNP	C	TCGA-20-1687-01A-01W-0633-09		54824013	8201507	66	9447											
CCT8L2	150160	genome.wustl.edu	37	22	17072668	17072668	+	Missense_Mutation	SNP	G	G	A	rs147789853	byFrequency	TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr22:17072668G>A	ENST00000359963.3	-	1	1032	c.773C>T	c.(772-774)aCg>aTg	p.T258M		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	258					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAGACGGGCCGTTGCTGGTGC	0.502													a|||	2	0.000399361	0	0	5008	,	,		20024	0		0.002	False		,,,				2504	0															0			22						A	MET/THR	0,4406		0,0,2203	99	94	96		773	-0.8	0	22	dbSNP_134	96	1,8599	819.1+/-406.8	0,1,4299	no	missense	CCT8L2	NM_014406.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	258/558	17072668	1,13005	2203	4300	6503	15452668	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.773C>T	22.37:g.17072668G>A	ENSP00000353048:p.Thr258Met		15452668	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	a	11.55	1.672953	0.29693	0.0	1.16E-4	ENSG00000198445	ENST00000359963	T	0.76968	-1.06	1.98	-0.751	0.11076	.	0.697381	0.11745	N	0.533639	D	0.83806	0.5334	M	0.82517	2.595	0.09310	N	1	D	0.65815	0.995	P	0.62885	0.908	T	0.71368	-0.4614	10	0.49607	T	0.09	-4.5008	4.844	0.13505	0.3565:0.0:0.6435:0.0	.	258	Q96SF2	TCPQM_HUMAN	M	258	ENSP00000353048:T258M	ENSP00000353048:T258M	T	-	2	0	CCT8L2	15452668	0.001000	0.12720	0.002000	0.10522	0.036000	0.12997	0.399000	0.20916	-0.216000	0.10048	-0.885000	0.02943	ACG		0.502	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			A	17072668	G	A	17072668	3	1	167	1	0	0	0	0	1	0	0	0	2961	1145	40	1	904	1	CCT8L2	22	17072668	Missense_Mutation	SNP	G	TCGA-20-1687-01A-01W-0633-09		17072668	34231898	67	9448											
CECR2	27443	genome.wustl.edu	37	22	18022253	18022253	+	Silent	SNP	C	C	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chr22:18022253C>T	ENST00000400585.2	+	16	2370	c.1932C>T	c.(1930-1932)caC>caT	p.H644H	CECR2_ENST00000400573.5_Silent_p.H785H|CECR2_ENST00000262608.8_Silent_p.H786H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	827					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTCTCGGTCACGTGATGGATT	0.592																																																0			22											66	72	70					22																	18022253		2050	4184	6234	16402253	SO:0001819	synonymous_variant	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1932C>T	22.37:g.18022253C>T			16402253	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37																																																																																					0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		T	18022253	C	T	18022253	2	4	167	1	0	0	0	0	0	0	0	1	3206	535	19	1		1	CECR2	22	18022253	Silent	SNP	C	TCGA-20-1687-01A-01W-0633-09	949585	18022253	33282313	68	9449											
MOSPD2	158747	genome.wustl.edu	37	X	14936834	14936837	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	CAAA	CAAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chrX:14936834_14936837delCAAA	ENST00000380492.3	+	14	1437_1440	c.1349_1352delCAAA	c.(1348-1353)ccaaacfs	p.PN450fs	MOSPD2_ENST00000482354.1_Frame_Shift_Del_p.PN450fs|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	450						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGCAGTAAACCAAACACTCTTACG	0.27																																																0			X																																								14846758	SO:0001589	frameshift_variant	158747			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1349_1352delCAAA	X.37:g.14936834_14936837delCAAA	ENSP00000369860:p.Pro450fs		14846755	Q8N3H2|Q8NA83	Frame_Shift_Del	DEL	ENST00000380492.3	37	CCDS14162.1																																																																																				0.27	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		-	14936837	CAAA	-	14936834	7	5	167	1	0	1	0	1	0	0	0	0	9716	594	21	0	1403	0	MOSPD2	23	14936834	Frame_Shift_Del	DEL	CAAA	TCGA-20-1687-01A-01W-0633-09		14936834	140333726	69	9450											
DCAF12L2	340578	genome.wustl.edu	37	X	125298739	125298739	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chrX:125298739C>T	ENST00000360028.2	-	1	1195	c.1169G>A	c.(1168-1170)aGc>aAc	p.S390N	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.S390N			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	390										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGAGTCCAGGCTGGAAGAGGC	0.607																																																0			X											70	75	73					X																	125298739		2200	4299	6499	125126420	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1169G>A	X.37:g.125298739C>T	ENSP00000353128:p.Ser390Asn		125126420	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183308	0.01620	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.17691	2.26;2.26	4.14	1.23	0.21249	.	0.967720	0.08450	N	0.944006	T	0.09158	0.0226	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	10	0.19590	T	0.45	.	4.6119	0.12406	0.187:0.6027:0.0:0.2103	.	390	Q5VW00	DC122_HUMAN	N	390	ENSP00000441489:S390N;ENSP00000353128:S390N	ENSP00000353128:S390N	S	-	2	0	DCAF12L2	125126420	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.652000	0.05366	0.111000	0.17947	0.600000	0.82982	AGC		0.607	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125298739	C	T	125298739	3	4	167	1	0	0	0	0	1	0	0	0	4265	797	28	2	226	2	DCAF12L2	23	125298739	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	110361905	125298739	29971821	70	9451											
ARHGAP36	158763	genome.wustl.edu	37	X	130222644	130222644	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chrX:130222644C>A	ENST00000276211.5	+	12	1874	c.1529C>A	c.(1528-1530)tCc>tAc	p.S510Y	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S374Y|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S498Y	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	510					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACTGCCCGTTCCCATGACGAT	0.547																																																0			X											60	51	54					X																	130222644		2203	4300	6503	130050325	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1529C>A	X.37:g.130222644C>A	ENSP00000276211:p.Ser510Tyr		130050325	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.261824	0.23051	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.15603	2.43;2.46;2.44;2.41	4.31	3.45	0.39498	.	0.147716	0.32106	N	0.006570	T	0.09335	0.0230	N	0.08118	0	0.29067	N	0.883525	P;P;P	0.50943	0.688;0.688;0.94	B;B;P	0.50440	0.332;0.332;0.641	T	0.09122	-1.0689	10	0.02654	T	1	.	7.039	0.25008	0.0:0.8771:0.0:0.1229	.	479;498;510	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Y	510;498;479;374	ENSP00000276211:S510Y;ENSP00000359960:S498Y;ENSP00000408515:S479Y;ENSP00000359959:S374Y	ENSP00000276211:S510Y	S	+	2	0	ARHGAP36	130050325	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.021000	0.30040	1.165000	0.42670	0.600000	0.82982	TCC		0.547	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		A	130222644	C	A	130222644	3	1	167	1	0	0	0	0	1	0	0	0	883	855	30	3	1571	3	ARHGAP36	23	130222644	Missense_Mutation	SNP	C	TCGA-20-1687-01A-01W-0633-09	4923905	130222644	25047916	71	9452											
PRRG3	79057	genome.wustl.edu	37	X	150869496	150869496	+	Silent	SNP	T	T	G			TCGA-20-1687-01A-01W-0633-09	TCGA-20-1687-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	463e0262-355d-409c-8b11-349e57838c0e	e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc	g.chrX:150869496T>G	ENST00000370353.3	+	4	1077	c.687T>G	c.(685-687)gcT>gcG	p.A229A	PRRG3_ENST00000538575.1_Silent_p.A229A			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	229						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTGGCGCTGACAAGTAGT	0.537																																																0			X											86	76	79					X																	150869496		2202	4299	6501	150620152	SO:0001819	synonymous_variant	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.687T>G	X.37:g.150869496T>G			150620152	A1A523|A1A575|Q8N2N6	Silent	SNP	ENST00000370353.3	37	CCDS14699.1																																																																																				0.537	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		G	150869496	T	G	150869496	2	3	167	1	0	0	0	0	0	0	0	1	12610	1567	55	5		5	PRRG3	23	150869496	Silent	SNP	T	TCGA-20-1687-01A-01W-0633-09	20646852	150869496	4401064	72	9453											
HYI	81888	genome.wustl.edu	37	1	43917621	43917621	+	Missense_Mutation	SNP	C	C	T	rs373445250		TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr1:43917621C>T	ENST00000372425.4	-	4	685	c.490G>A	c.(490-492)Gac>Aac	p.D164N	HYI_ENST00000486909.1_Missense_Mutation_p.D164N|HYI_ENST00000583037.1_Missense_Mutation_p.D91N|HYI_ENST00000372432.1_Missense_Mutation_p.D164N|HYI-AS1_ENST00000444386.1_RNA|SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372434.1_Missense_Mutation_p.D189N|HYI_ENST00000372426.1_Missense_Mutation_p.D116N			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	164							hydroxypyruvate isomerase activity (GO:0008903)	p.D91N(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGGCGTGTCCAGGAAGTAC	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											103	107	106					1																	43917621		2203	4300	6503	43690208	SO:0001583	missense	81888				CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"hydroxypyruvate isomerase homolog (E. coli)"			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.490G>A	1.37:g.43917621C>T	ENSP00000361502:p.Asp164Asn		43690208	D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	CCDS53309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.783|6.783	0.513396|0.513396	0.12944|0.12944	.|.	.|.	ENSG00000178922|ENSG00000178922	ENST00000372425;ENST00000372433;ENST00000372434;ENST00000372430;ENST00000372432;ENST00000372427;ENST00000372426;ENST00000486909|ENST00000470662;ENST00000487366	T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Xylose isomerase-like, TIM barrel domain (2);Xylose isomerase, TIM barrel domain (1);|.	0.142024|.	0.64402|.	D|.	0.000007|.	T|.	0.24431|.	0.0592|.	N|N	0.03281|0.03281	-0.365|-0.365	0.43555|0.43555	D|D	0.995866|0.995866	B|.	0.12013|.	0.005|.	B|.	0.16289|.	0.015|.	T|.	0.14309|.	-1.0477|.	10|.	0.02654|.	T|.	1|.	.|.	7.3451|7.3451	0.26658|0.26658	0.0:0.7958:0.0:0.2042|0.0:0.7958:0.0:0.2042	.|.	164|.	Q5T013|.	HYI_HUMAN|.	N|X	164;82;116;91;164;97;116;164|82;87	ENSP00000361502:D164N;ENSP00000361509:D164N;ENSP00000361503:D116N;ENSP00000428399:D164N|.	ENSP00000361502:D164N|.	D|W	-|-	1|3	0|0	HYI|HYI	43690208|43690208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.889000|2.889000	0.48601|0.48601	2.700000|2.700000	0.92200|0.92200	0.462000|0.462000	0.41574|0.41574	GAC|TGG		0.597	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		T	43917621	C	T	43917621	3	4	168	1	0	0	0	0	1	0	0	0	7468	855	30	2	363	2	HYI	1	43917621	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09		43917621	205333000	1	9454											
RAG1AP1	55974	genome.wustl.edu	37	1	155110534	155110534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr1:155110534G>A	ENST00000368404.4	+	5	586	c.524G>A	c.(523-525)tGg>tAg	p.W175*	SLC50A1_ENST00000368401.5_Nonsense_Mutation_p.W120*|SLC50A1_ENST00000484157.1_Nonsense_Mutation_p.W110*|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Nonsense_Mutation_p.W121*	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	175	Mediates interaction with TRPV2. {ECO:0000250}.|MtN3/slv 2.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)	p.W175*(1)		endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TCTGCCTCCTGGTGCCTCTAT	0.502																																																1	Substitution - Nonsense(1)	ovary(1)	1											167	146	153					1																	155110534		2203	4300	6503	153377158	SO:0001587	stop_gained	55974			AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"Solute carriers"	30657	protein-coding gene	gene with protein product	"stromal cell protein"	613683	"recombination activating gene 1 activating protein 1"	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.524G>A	1.37:g.155110534G>A	ENSP00000357389:p.Trp175*		153377158	Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Nonsense_Mutation	SNP	ENST00000368404.4	37	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984212	0.74474	.	.	ENSG00000169241	ENST00000484157;ENST00000303343;ENST00000368404;ENST00000368401	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3161	16.1085	0.81241	0.0:0.0:1.0:0.0	.	.	.	.	X	110;121;175;120	.	ENSP00000306146:W121X	W	+	2	0	SLC50A1	153377158	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	7.640000	0.83355	2.749000	0.94314	0.655000	0.94253	TGG		0.502	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		A	155110534	G	A	155110534	4	1	168	1	0	0	0	0	0	1	0	0	13007	1357	47	2	542	2	RAG1AP1	1	155110534	Nonsense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	111192913	155110534	94140087	2	9455											
FAM129A	116496	genome.wustl.edu	37	1	184764715	184764716	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	C|T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr1:184764715_184764716GG>CT	ENST00000367511.3	-	14	2375_2376	c.2182_2183CC>AG	c.(2182-2184)CCa>AGa	p.P728R	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	728	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P728T(1)|p.P728R(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCCATCACTGGAGCAGAGTCC	0.554																																																2	Substitution - Missense(2)	ovary(2)	1																																								183031338|183031339	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2182_2183delinsCT	1.37:g.184764715_184764716delinsCT	ENSP00000356481:p.Pro728Arg		183031338|183031339	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1																																																																																				0.554	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			CT	184764716	GG	CT	184764715	3	2	168	1	0	0	0	0	1	0	0	0	5436	1348	47	3	607	3	FAM129A	1	184764715	Missense_Mutation	DNP	GG	TCGA-23-1021-01B-01W-0488-09	29654181	184764715	64485906	3	9456											
USH2A	7399	genome.wustl.edu	37	1	216591942	216591942	+	Missense_Mutation	SNP	G	G	A	rs370653547		TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr1:216591942G>A	ENST00000307340.3	-	3	951	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	USH2A_ENST00000366943.2_Missense_Mutation_p.R189C|USH2A_ENST00000366942.3_Missense_Mutation_p.R189C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	189					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R189C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTACTGTGCGATAATAAAAC	0.368										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	130	124	126		565,565	5.6	1	1		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	USH2A	NM_007123.5,NM_206933.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	189/1547,189/5203	216591942	1,13005	2203	4300	6503	214658565	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.565C>T	1.37:g.216591942G>A	ENSP00000305941:p.Arg189Cys		214658565	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503905	0.85176	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.74526	-0.85;-0.85;-0.85	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.43579	U	0.000557	D	0.85733	0.5765	M	0.65975	2.015	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.978	D	0.86518	0.1814	10	0.87932	D	0	.	19.6478	0.95789	0.0:0.0:1.0:0.0	.	189;189	O75445-2;O75445	.;USH2A_HUMAN	C	189	ENSP00000305941:R189C;ENSP00000355910:R189C;ENSP00000355909:R189C	ENSP00000305941:R189C	R	-	1	0	USH2A	214658565	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	4.047000	0.57383	2.638000	0.89438	0.655000	0.94253	CGC		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216591942	G	A	216591942	3	1	168	1	0	0	0	0	1	0	0	0	17036	1058	37	1	15337	1	USH2A	1	216591942	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	31827227	216591942	32658679	4	9457											
FOSL2	2355	genome.wustl.edu	37	2	28631719	28631719	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr2:28631719G>A	ENST00000264716.4	+	3	1311	c.448G>A	c.(448-450)Gag>Aag	p.E150K	FOSL2_ENST00000545753.1_Missense_Mutation_p.E111K|FOSL2_ENST00000379619.1_Missense_Mutation_p.E125K	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	150	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E150K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGAGCTGACAGAGAAGCTGCA	0.647																																																1	Substitution - Missense(1)	ovary(1)	2											25	28	27					2																	28631719		2202	4300	6502	28485223	SO:0001583	missense	2355				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.448G>A	2.37:g.28631719G>A	ENSP00000264716:p.Glu150Lys		28485223	B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	G	36	5.877677	0.97055	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.45	5.45	0.79879	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.047275	0.85682	D	0.000000	T	0.64627	0.2615	L	0.36672	1.1	0.80722	D	1	P	0.50819	0.939	P	0.51453	0.67	T	0.61257	-0.7099	9	.	.	.	-5.6283	19.2653	0.93983	0.0:0.0:1.0:0.0	.	150	P15408	FOSL2_HUMAN	K	125;150;111;111	ENSP00000368939:E125K;ENSP00000264716:E150K;ENSP00000396497:E111K;ENSP00000439303:E111K	.	E	+	1	0	FOSL2	28485223	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	9.790000	0.99075	2.554000	0.86153	0.655000	0.94253	GAG		0.647	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		A	28631719	G	A	28631719	3	1	168	1	0	0	0	0	1	0	0	0	5988	943	33	2	458	2	FOSL2	2	28631719	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09		28631719	214567654	5	9458											
RIF1	55183	genome.wustl.edu	37	2	152320193	152320193	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr2:152320193A>G	ENST00000243326.5	+	29	4642	c.4159A>G	c.(4159-4161)Aat>Gat	p.N1387D	RIF1_ENST00000430328.2_Missense_Mutation_p.N1387D|RIF1_ENST00000444746.2_Missense_Mutation_p.N1387D|RIF1_ENST00000453091.2_Missense_Mutation_p.N1387D|RIF1_ENST00000428287.2_Missense_Mutation_p.N1387D			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.N1387D(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATCCAAAGAGAATACACCCCC	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											90	96	94					2																	152320193		2203	4300	6503	152028439	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4159A>G	2.37:g.152320193A>G	ENSP00000243326:p.Asn1387Asp		152028439	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032546	0.75504	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.45	5.45	0.79879	.	0.388373	0.30168	N	0.010251	T	0.52386	0.1731	M	0.66939	2.045	0.80722	D	1	D;D	0.56746	0.962;0.977	P;P	0.55871	0.637;0.786	T	0.53885	-0.8375	10	0.49607	T	0.09	-11.5968	15.1804	0.72952	1.0:0.0:0.0:0.0	.	1387;1387	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	D	1387	ENSP00000390181:N1387D;ENSP00000414615:N1387D;ENSP00000415691:N1387D;ENSP00000243326:N1387D;ENSP00000416123:N1387D	ENSP00000243326:N1387D	N	+	1	0	RIF1	152028439	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.854000	0.75440	2.076000	0.62316	0.455000	0.32223	AAT		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			G	152320193	A	G	152320193	3	3	168	1	0	0	0	0	1	0	0	0	13362	246	9	4	4273	4	RIF1	2	152320193	Missense_Mutation	SNP	A	TCGA-23-1021-01B-01W-0488-09	123688474	152320193	90879180	6	9459											
TTN	7273	genome.wustl.edu	37	2	179454988	179454988	+	Silent	SNP	C	C	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr2:179454988C>A	ENST00000591111.1	-	254	56765	c.56541G>T	c.(56539-56541)gtG>gtT	p.V18847V	TTN_ENST00000589042.1_Silent_p.V20488V|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.V11615V|TTN_ENST00000359218.5_Silent_p.V11548V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.V11423V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.V17920V|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18847	Ig-like 107.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V17918V(1)|p.V11423V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTACTCTCACGGTAATAA	0.438																																																2	Substitution - coding silent(2)	ovary(2)	2											199	181	187					2																	179454988		1958	4146	6104	179163234	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56541G>T	2.37:g.179454988C>A			179163234	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179454988	C	A	179454988	2	1	168	1	0	0	0	0	0	0	0	1	16735	813	29	3		3	TTN	2	179454988	Silent	SNP	C	TCGA-23-1021-01B-01W-0488-09	27134795	179454988	63744385	7	9460											
STAT4	6775	genome.wustl.edu	37	2	191922749	191922749	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr2:191922749G>A	ENST00000392320.2	-	13	1515	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	STAT4_ENST00000358470.4_Missense_Mutation_p.H401Y	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	401					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.H401Y(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CTTACCAAATGTCGAAATTCT	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											74	74	74					2																	191922749		2203	4300	6503	191630994	SO:0001583	missense	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1201C>T	2.37:g.191922749G>A	ENSP00000376134:p.His401Tyr		191630994	Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236862	0.79800	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.77750	-1.12;-1.12	5.38	5.38	0.77491	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	L	0.52126	1.63	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67382	0.951;0.951;0.951	D	0.84001	0.0343	10	0.44086	T	0.13	-49.398	19.5078	0.95127	0.0:0.0:1.0:0.0	.	310;401;401	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	Y	401	ENSP00000351255:H401Y;ENSP00000376134:H401Y	ENSP00000351255:H401Y	H	-	1	0	STAT4	191630994	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.061000	0.93913	2.694000	0.91930	0.585000	0.79938	CAT		0.358	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		A	191922749	G	A	191922749	3	1	168	1	0	0	0	0	1	0	0	0	15269	1377	48	2	1093	2	STAT4	2	191922749	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	12467761	191922749	51276624	8	9461											
ZDBF2	57683	genome.wustl.edu	37	2	207171914	207171914	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr2:207171914G>A	ENST00000374423.3	+	5	3048	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	888							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E888K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAATTCTCCCGAAGTAGCTGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											61	57	58					2																	207171914		1824	4092	5916	206880159	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2662G>A	2.37:g.207171914G>A	ENSP00000363545:p.Glu888Lys		206880159	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004196	0.35320	.	.	ENSG00000204186	ENST00000374423	T	0.53857	0.6	4.41	0.266	0.15617	.	0.967282	0.08454	N	0.943444	T	0.38506	0.1043	L	0.45581	1.43	0.09310	N	1	B	0.25850	0.136	B	0.16289	0.015	T	0.22034	-1.0228	10	0.27785	T	0.31	.	3.5234	0.07751	0.4075:0.0:0.4195:0.173	.	888	Q9HCK1	ZDBF2_HUMAN	K	888	ENSP00000363545:E888K	ENSP00000363545:E888K	E	+	1	0	ZDBF2	206880159	0.053000	0.20554	0.000000	0.03702	0.221000	0.24807	-0.169000	0.09911	0.034000	0.15491	0.655000	0.94253	GAA		0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207171914	G	A	207171914	3	1	168	1	0	0	0	0	1	0	0	0	17599	1059	37	1	2672	1	ZDBF2	2	207171914	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	15249165	207171914	36027459	9	9462											
PIKFYVE	200576	genome.wustl.edu	37	2	209190291	209190291	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr2:209190291C>A	ENST00000264380.4	+	20	2914	c.2756C>A	c.(2755-2757)cCt>cAt	p.P919H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	919					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.P919H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GACATCCCTCCTGAGTCTCTG	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											74	67	69					2																	209190291		2203	4300	6503	208898536	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2756C>A	2.37:g.209190291C>A	ENSP00000264380:p.Pro919His		208898536	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	0.356	-0.942223	0.02322	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.27557	1.66;1.82	6.07	2.33	0.28932	.	0.716341	0.13266	N	0.400875	T	0.24890	0.0604	L	0.36672	1.1	0.49687	D	0.99981	B;B	0.26876	0.102;0.162	B;B	0.30855	0.078;0.121	T	0.03898	-1.0994	10	0.49607	T	0.09	-0.6125	7.9759	0.30155	0.0:0.6943:0.116:0.1897	.	919;863	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	H	919;495;863	ENSP00000264380:P919H;ENSP00000405736:P863H	ENSP00000264380:P919H	P	+	2	0	PIKFYVE	208898536	0.003000	0.15002	0.001000	0.08648	0.134000	0.20937	1.585000	0.36600	0.162000	0.19483	0.650000	0.86243	CCT		0.522	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		A	209190291	C	A	209190291	3	1	168	1	0	0	0	0	1	0	0	0	11924	681	24	3	2841	3	PIKFYVE	2	209190291	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	2018377	209190291	34009082	10	9463											
COL4A4	1286	genome.wustl.edu	37	2	227958954	227958962	+	In_Frame_Del	DEL	GGAAGCCCA	GGAAGCCCA	-			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	GGAAGCCCA	GGAAGCCCA	GGAAGCCCA	-	GGAAGCCCA	GGAAGCCCA	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr2:227958954_227958962delGGAAGCCCA	ENST00000396625.3	-	20	1455_1463	c.1248_1256delTGGGCTTCC	c.(1246-1257)cctgggcttcca>cca	p.416_419PGLP>P	COL4A4_ENST00000329662.7_In_Frame_Del_p.416_419PGLP>P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	416	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGCTTCTCCTGGAAGCCCAGGAAGACCAG	0.522																																																0			2																																								227667206	SO:0001651	inframe_deletion	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1248_1256delTGGGCTTCC	2.37:g.227958954_227958962delGGAAGCCCA	ENSP00000379866:p.Pro416_Leu418del		227667198	A8MTZ1|Q53RW9|Q53S42|Q53WR1	In_Frame_Del	DEL	ENST00000396625.3	37	CCDS42828.1																																																																																				0.522	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		-	227958962	GGAAGCCCA	-	227958954	7	5	168	1	0	1	0	1	0	0	0	0	3693	1348	47	0	3932	0	COL4A4	2	227958954	In_Frame_Del	DEL	GGAAGCCCA	TCGA-23-1021-01B-01W-0488-09	18768663	227958954	15240419	11	9464											
UGT1A9	54600	genome.wustl.edu	37	2	234581112	234581112	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr2:234581112G>A	ENST00000354728.4	+	1	614	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	UGT1A1_ENST00000609637.1_Missense_Mutation_p.E178K|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	178					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.E178K(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	CCACTATCTTGAAGAAGGTGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											167	170	169					2																	234581112		2203	4300	6503	234245851	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.532G>A	2.37:g.234581112G>A	ENSP00000346768:p.Glu178Lys		234245851	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	5.317	0.243819	0.10077	.	.	ENSG00000241119	ENST00000354728	T	0.60672	0.17	3.41	2.5	0.30297	.	.	.	.	.	T	0.43656	0.1257	N	0.15975	0.35	0.09310	N	1	B;B	0.26512	0.151;0.151	B;B	0.36766	0.232;0.232	T	0.46176	-0.9210	9	0.62326	D	0.03	.	7.8588	0.29497	0.0:0.1329:0.534:0.3331	.	178;178	Q5DSZ5;O60656	.;UD19_HUMAN	K	178	ENSP00000346768:E178K	ENSP00000346768:E178K	E	+	1	0	UGT1A9	234245851	0.000000	0.05858	0.235000	0.24058	0.633000	0.38033	0.520000	0.22878	0.739000	0.32628	0.440000	0.28878	GAA		0.473	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		A	234581112	G	A	234581112	3	1	168	1	0	0	0	0	1	0	0	0	16952	1291	45	2	534	2	UGT1A9	2	234581112	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	6622158	234581112	8618261	12	9465											
USP19	10869	genome.wustl.edu	37	3	49148453	49148453	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr3:49148453C>T	ENST00000398888.2	-	22	3484	c.3166G>A	c.(3166-3168)Ggc>Agc	p.G1056S	USP19_ENST00000434032.2_Missense_Mutation_p.G1157S|USP19_ENST00000398898.2_Missense_Mutation_p.G1096S|USP19_ENST00000398896.1_Missense_Mutation_p.G864S|USP19_ENST00000417901.1_Missense_Mutation_p.G1159S|USP19_ENST00000398892.3_Missense_Mutation_p.G1096S|USP19_ENST00000453664.1_Missense_Mutation_p.G1147S	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1056	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.G1144S(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGAAGTGGCCGGCCCGGGCA	0.617																																																1	Substitution - Missense(1)	ovary(1)	3											53	63	60					3																	49148453		1983	4160	6143	49123457	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3166G>A	3.37:g.49148453C>T	ENSP00000381863:p.Gly1056Ser		49123457	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763798	0.89932	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.22336	1.98;1.97;2.06;2.06;1.96;2.1;2.07	5.76	5.76	0.90799	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.045788	0.85682	D	0.000000	T	0.41305	0.1153	L	0.42529	1.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999	T	0.02037	-1.1225	10	0.33141	T	0.24	-16.9909	19.9857	0.97347	0.0:1.0:0.0:0.0	.	1157;1147;1056;1096;864	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	S	864;1096;1159;1147;1096;1056;1157	ENSP00000381870:G864S;ENSP00000381872:G1096S;ENSP00000395260:G1159S;ENSP00000400090:G1147S;ENSP00000381867:G1096S;ENSP00000381863:G1056S;ENSP00000401197:G1157S	ENSP00000381863:G1056S	G	-	1	0	USP19	49123457	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.388000	0.79795	2.706000	0.92434	0.655000	0.94253	GGC		0.617	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		T	49148453	C	T	49148453	3	4	168	1	0	0	0	0	1	0	0	0	17050	652	23	1	810	1	USP19	3	49148453	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09		49148453	148873977	13	9466											
SENP7	57337	genome.wustl.edu	37	3	101080585	101080585	+	Nonsense_Mutation	SNP	T	T	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr3:101080585T>A	ENST00000394095.2	-	11	1650	c.1597A>T	c.(1597-1599)Aaa>Taa	p.K533*	SENP7_ENST00000394094.2_Nonsense_Mutation_p.K468*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.K467*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.K369*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.K500*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.K369*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	533						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.K467*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAAGCTCCTTTTATTTTACCA	0.279																																																1	Substitution - Nonsense(1)	ovary(1)	3											31	33	32					3																	101080585		2192	4275	6467	102563275	SO:0001587	stop_gained	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1597A>T	3.37:g.101080585T>A	ENSP00000377655:p.Lys533*		102563275	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Nonsense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	37	5.999567	0.97189	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	.	.	.	5.71	5.71	0.89125	.	0.061993	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5652	12.4094	0.55459	0.0:0.0:0.0:1.0	.	.	.	.	X	533;468;467;369;369;500	.	ENSP00000313624:K467X	K	-	1	0	SENP7	102563275	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.652000	0.37313	2.179000	0.69175	0.473000	0.43528	AAA		0.279	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		A	101080585	T	A	101080585	4	1	168	1	0	0	0	0	0	1	0	0	14054	1850	64	5	1611	5	SENP7	3	101080585	Nonsense_Mutation	SNP	T	TCGA-23-1021-01B-01W-0488-09	51932132	101080585	96941845	14	9467											
TMEM39A	55254	genome.wustl.edu	37	3	119180831	119180831	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr3:119180831T>A	ENST00000319172.5	-	2	511	c.91A>T	c.(91-93)Aat>Tat	p.N31Y	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	31						integral component of membrane (GO:0016021)		p.N31Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CCTGTTCCATTGCCACAGCCT	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											87	81	83					3																	119180831		2203	4300	6503	120663521	SO:0001583	missense	55254			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.91A>T	3.37:g.119180831T>A	ENSP00000326063:p.Asn31Tyr		120663521	D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.452808	0.84209	.	.	ENSG00000176142	ENST00000319172;ENST00000491685;ENST00000468676;ENST00000497993;ENST00000461654	T	0.47869	0.83	5.14	5.14	0.70334	.	0.084915	0.85682	D	0.000000	T	0.58807	0.2148	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.61242	-0.7102	10	0.62326	D	0.03	-6.1304	14.5842	0.68312	0.0:0.0:0.0:1.0	.	31	Q9NV64	TM39A_HUMAN	Y	31	ENSP00000326063:N31Y	ENSP00000326063:N31Y	N	-	1	0	TMEM39A	120663521	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.409000	0.80053	2.285000	0.76669	0.533000	0.62120	AAT		0.438	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		A	119180831	T	A	119180831	3	1	168	1	0	0	0	0	1	0	0	0	16161	1812	63	5	1407	5	TMEM39A	3	119180831	Missense_Mutation	SNP	T	TCGA-23-1021-01B-01W-0488-09	18100246	119180831	78841599	15	9468											
SLC12A8	84561	genome.wustl.edu	37	3	124896804	124896804	+	Silent	SNP	G	G	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr3:124896804G>T	ENST00000393469.4	-	4	454	c.405C>A	c.(403-405)gcC>gcA	p.A135A	SLC12A8_ENST00000423114.2_Silent_p.A164A|SLC12A8_ENST00000469902.1_Silent_p.A135A|SLC12A8_ENST00000314584.7_5'UTR	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	135					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.A135A(1)		endometrium(2)|kidney(2)|lung(12)	16						TGATATACATGGCACCTGCAA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	3											38	43	42					3																	124896804		2131	4232	6363	126379494	SO:0001819	synonymous_variant	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.405C>A	3.37:g.124896804G>T			126379494	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	ENST00000393469.4	37	CCDS43143.1																																																																																				0.562	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		T	124896804	G	T	124896804	2	4	168	1	0	0	0	0	0	0	0	1	14392	1335	47	3		3	SLC12A8	3	124896804	Silent	SNP	G	TCGA-23-1021-01B-01W-0488-09	5715973	124896804	73125626	16	9469											
RASA2	5922	genome.wustl.edu	37	3	141248601	141248601	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr3:141248601C>G	ENST00000452898.1	+	4	442	c.407C>G	c.(406-408)aCt>aGt	p.T136S	RASA2_ENST00000286364.3_Missense_Mutation_p.T136S	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	136					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.T136S(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GGCAAAGAAACTTGGTTTTCA	0.328																																																1	Substitution - Missense(1)	ovary(1)	3											81	82	82					3																	141248601		2203	4299	6502	142731291	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.407C>G	3.37:g.141248601C>G	ENSP00000391677:p.Thr136Ser		142731291	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37		.	.	.	.	.	.	.	.	.	.	C	2.974	-0.211793	0.06140	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.70986	-0.53;-0.53	5.84	4.96	0.65561	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.198015	0.43260	D	0.000584	T	0.62258	0.2413	L	0.48642	1.525	0.30959	N	0.723909	B;B;B	0.32188	0.245;0.359;0.245	B;B;B	0.36845	0.118;0.234;0.118	T	0.59198	-0.7499	10	0.09084	T	0.74	.	11.4892	0.50371	0.1408:0.7234:0.1358:0.0	.	136;136;136	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	S	136	ENSP00000286364:T136S;ENSP00000391677:T136S	ENSP00000286364:T136S	T	+	2	0	RASA2	142731291	0.904000	0.30761	1.000000	0.80357	0.989000	0.77384	0.689000	0.25437	1.456000	0.47831	0.655000	0.94253	ACT		0.328	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		G	141248601	C	G	141248601	3	3	168	1	0	0	0	0	1	0	0	0	13064	565	20	3	421	3	RASA2	3	141248601	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	16351797	141248601	56773829	17	9470											
LRRC15	131578	genome.wustl.edu	37	3	194081480	194081480	+	Missense_Mutation	SNP	C	C	T	rs200640377		TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr3:194081480C>T	ENST00000347624.3	-	2	378	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	LRRC15_ENST00000428839.1_Missense_Mutation_p.R104Q|LRRC15_ENST00000439944.2_Missense_Mutation_p.R104Q	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	98					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.R98Q(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GCCCAGGTTTCGGAAGGCCCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	3						C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	72	66	68		293,311	3.9	1	3		68	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	LRRC15	NM_130830.4,NM_001135057.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	98/582,104/588	194081480	1,13005	2203	4300	6503	195562775	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.293G>A	3.37:g.194081480C>T	ENSP00000306276:p.Arg98Gln		195562775	Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	6.943	0.543791	0.13312	0.0	1.16E-4	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56103	0.48;0.48;0.48	4.8	3.93	0.45458	.	0.353495	0.27319	N	0.019918	T	0.29256	0.0728	N	0.25380	0.74	0.29603	N	0.847514	B;B	0.29716	0.106;0.255	B;B	0.19946	0.027;0.016	T	0.12192	-1.0557	10	0.13108	T	0.6	.	4.1354	0.10169	0.1714:0.575:0.0:0.2536	.	98;104	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	Q	98;104;104	ENSP00000306276:R98Q;ENSP00000389128:R104Q;ENSP00000413707:R104Q	ENSP00000306276:R98Q	R	-	2	0	LRRC15	195562775	0.026000	0.19158	0.977000	0.42913	0.722000	0.41435	0.189000	0.17037	1.341000	0.45600	0.462000	0.41574	CGA		0.582	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			T	194081480	C	T	194081480	3	4	168	1	0	0	0	0	1	0	0	0	8970	884	31	1	1456	1	LRRC15	3	194081480	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	52832879	194081480	3940950	18	9471											
DCK	1633	genome.wustl.edu	37	4	71888090	71888090	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr4:71888090A>G	ENST00000286648.5	+	3	611	c.214A>G	c.(214-216)Aca>Gca	p.T72A	DCK_ENST00000504952.1_Missense_Mutation_p.T72A|MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504730.1_Missense_Mutation_p.T72A	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	72					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)	p.T72A(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	ATAGGAACTTACAATGTCTCA	0.313																																																1	Substitution - Missense(1)	ovary(1)	4											80	80	80					4																	71888090		2203	4300	6503	72106954	SO:0001583	missense	1633			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.214A>G	4.37:g.71888090A>G	ENSP00000286648:p.Thr72Ala		72106954	B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442708	0.43326	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.98876	-5.2;-4.71;-5.17	5.96	4.71	0.59529	.	0.044791	0.85682	D	0.000000	D	0.96204	0.8762	L	0.45422	1.42	0.58432	D	0.999999	B	0.19445	0.036	B	0.16722	0.016	D	0.93953	0.7233	10	0.23891	T	0.37	.	10.8517	0.46773	0.7649:0.0:0.0:0.2351	.	72	P27707	DCK_HUMAN	A	72	ENSP00000286648:T72A;ENSP00000425578:T72A;ENSP00000421508:T72A	ENSP00000286648:T72A	T	+	1	0	DCK	72106954	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.777000	0.62361	2.279000	0.76181	0.533000	0.62120	ACA		0.313	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			G	71888090	A	G	71888090	3	3	168	1	0	0	0	0	1	0	0	0	4290	391	14	4	224	4	DCK	4	71888090	Missense_Mutation	SNP	A	TCGA-23-1021-01B-01W-0488-09		71888090	119266186	19	9472											
HSPA4L	22824	genome.wustl.edu	37	4	128715245	128715245	+	Silent	SNP	T	T	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr4:128715245T>C	ENST00000296464.4	+	2	532	c.121T>C	c.(121-123)Ttg>Ctg	p.L41L	HSPA4L_ENST00000439123.2_Silent_p.L72L|HSPA4L_ENST00000508776.1_Silent_p.L41L|HSPA4L_ENST00000505726.1_Silent_p.L15L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	41					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L41L(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGTATATCATTGGGATCAAG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	4											144	146	145					4																	128715245		2203	4300	6503	128934695	SO:0001819	synonymous_variant	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.121T>C	4.37:g.128715245T>C			128934695	A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	CCDS3734.1																																																																																				0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		C	128715245	T	C	128715245	2	2	168	1	0	0	0	0	0	0	0	1	7413	1490	52	4		4	HSPA4L	4	128715245	Silent	SNP	T	TCGA-23-1021-01B-01W-0488-09	56827155	128715245	62439031	20	9473											
LCP2	3937	genome.wustl.edu	37	5	169680190	169680190	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr5:169680190G>T	ENST00000046794.5	-	18	1793	c.1178C>A	c.(1177-1179)gCc>gAc	p.A393D	LCP2_ENST00000521416.1_Missense_Mutation_p.A188D	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	393					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.A393D(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCTGCCTTCGGCTCTGATAGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	5											54	52	53					5																	169680190		1832	4083	5915	169612768	SO:0001583	missense	3937				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1178C>A	5.37:g.169680190G>T	ENSP00000046794:p.Ala393Asp		169612768	A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459310	0.26248	.	.	ENSG00000043462	ENST00000046794;ENST00000521416	T;T	0.43688	0.95;0.94	5.73	-1.74	0.08056	.	1.314150	0.04678	N	0.411893	T	0.28764	0.0713	L	0.38175	1.15	0.09310	N	1	B;B	0.26935	0.059;0.164	B;B	0.26517	0.024;0.07	T	0.11446	-1.0587	9	.	.	.	4.8482	2.3098	0.04184	0.2177:0.3617:0.2969:0.1237	.	188;393	E7ESF6;Q13094	.;LCP2_HUMAN	D	393;188	ENSP00000046794:A393D;ENSP00000428871:A188D	.	A	-	2	0	LCP2	169612768	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	0.038000	0.13862	-0.591000	0.05859	0.557000	0.71058	GCC		0.438	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		T	169680190	G	T	169680190	3	4	168	1	0	0	0	0	1	0	0	0	8692	1203	42	3	439	3	LCP2	5	169680190	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09		169680190	11235070	21	9474											
ARL10	285598	genome.wustl.edu	37	5	175798811	175798811	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr5:175798811G>C	ENST00000310389.5	+	4	744	c.648G>C	c.(646-648)ttG>ttC	p.L216F		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	216					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.L216F(1)		endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TTTTCCTCTTGGCAGCCAGCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	5											86	88	87					5																	175798811		2203	4300	6503	175731417	SO:0001583	missense	285598			BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.648G>C	5.37:g.175798811G>C	ENSP00000308496:p.Leu216Phe		175731417		Missense_Mutation	SNP	ENST00000310389.5	37	CCDS4400.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455941	0.26161	.	.	ENSG00000175414	ENST00000310389	T	0.62498	0.02	5.39	2.6	0.31112	.	20.316300	0.00166	N	0.000000	T	0.64897	0.2640	N	0.12502	0.225	0.48830	D	0.999717	D	0.63880	0.993	D	0.68039	0.955	T	0.53194	-0.8473	10	0.87932	D	0	-13.5393	7.2607	0.26201	0.1507:0.138:0.7113:0.0	.	216	Q8N8L6	ARL10_HUMAN	F	216	ENSP00000308496:L216F	ENSP00000308496:L216F	L	+	3	2	ARL10	175731417	1.000000	0.71417	0.854000	0.33618	0.026000	0.11368	3.405000	0.52630	0.377000	0.24735	-0.140000	0.14226	TTG		0.602	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664		C	175798811	G	C	175798811	3	2	168	1	0	0	0	0	1	0	0	0	926	1339	47	3	662	3	ARL10	5	175798811	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	6118621	175798811	5116449	22	9475											
ZFP2	80108	genome.wustl.edu	37	5	178358884	178358884	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr5:178358884G>C	ENST00000361362.2	+	5	1100	c.570G>C	c.(568-570)gaG>gaC	p.E190D	ZFP2_ENST00000503510.2_Missense_Mutation_p.E190D|ZFP2_ENST00000520301.1_Missense_Mutation_p.E190D|ZFP2_ENST00000523286.1_Missense_Mutation_p.E190D	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	190					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.E190D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AGTGTAAAGAGTGTGGCAAAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	5											47	47	47					5																	178358884		2203	4300	6503	178291490	SO:0001583	missense	80108			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.570G>C	5.37:g.178358884G>C	ENSP00000354453:p.Glu190Asp		178291490	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	13.63	2.294910	0.40594	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	4.7	-0.665	0.11403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.569994	0.13204	N	0.405683	T	0.04363	0.0120	N	0.11313	0.125	0.27786	N	0.942983	B	0.09022	0.002	B	0.10450	0.005	T	0.36744	-0.9735	10	0.39692	T	0.17	-0.9813	8.9846	0.35986	0.5516:0.0:0.4484:0.0	.	190	Q6ZN57	ZFP2_HUMAN	D	190	ENSP00000354453:E190D;ENSP00000430980:E190D;ENSP00000430531:E190D;ENSP00000438114:E190D	ENSP00000354453:E190D	E	+	3	2	ZFP2	178291490	0.000000	0.05858	0.994000	0.49952	0.989000	0.77384	-0.949000	0.03893	-0.074000	0.12820	0.585000	0.79938	GAG		0.388	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		C	178358884	G	C	178358884	3	2	168	1	0	0	0	0	1	0	0	0	17641	1020	36	3	572	3	ZFP2	5	178358884	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	2560073	178358884	2556376	23	9476											
IRF4	3662	genome.wustl.edu	37	6	405067	405067	+	Silent	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr6:405067G>A	ENST00000380956.4	+	8	1275	c.1149G>A	c.(1147-1149)gtG>gtA	p.V383V		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	383					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V383V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GATTCCAGGTGACTCTATGCT	0.522			T	IGH@	MM																																		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	1	Substitution - coding silent(1)	ovary(1)	6											82	79	80					6																	405067		2203	4300	6503	350067	SO:0001819	synonymous_variant	3662			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1149G>A	6.37:g.405067G>A			350067	Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	CCDS4469.1																																																																																				0.522	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			A	405067	G	A	405067	2	1	168	1	0	0	0	0	0	0	0	1	7832	1277	45	2		2	IRF4	6	405067	Silent	SNP	G	TCGA-23-1021-01B-01W-0488-09		405067	170710000	24	9477											
HIST1H4L	8368	genome.wustl.edu	37	6	27841216	27841216	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr6:27841216C>T	ENST00000355981.2	-	1	73	c.73G>A	c.(73-75)Gac>Aac	p.D25N	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	25					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.D25N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAATGTTGTCGCGCAGAACT	0.592																																																1	Substitution - Missense(1)	ovary(1)	6											71	62	65					6																	27841216		2203	4300	6503	27949195	SO:0001583	missense	8368			X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"Histones / Replication-dependent"	4791	protein-coding gene	gene with protein product		602831	"H4 histone family, member K", "histone 1, H4l"	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.73G>A	6.37:g.27841216C>T	ENSP00000348258:p.Asp25Asn		27949195	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000355981.2	37	CCDS4637.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586738	0.66105	.	.	ENSG00000198558	ENST00000355981	.	.	.	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000001	T	0.71256	0.3318	.	.	.	0.45762	D	0.998654	.	.	.	.	.	.	T	0.75975	-0.3128	6	0.87932	D	0	.	16.7018	0.85351	0.0:1.0:0.0:0.0	.	.	.	.	N	25	.	ENSP00000348258:D25N	D	-	1	0	HIST1H4L	27949195	1.000000	0.71417	0.981000	0.43875	0.018000	0.09664	7.386000	0.79775	2.439000	0.82584	0.655000	0.94253	GAC		0.592	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546		T	27841216	C	T	27841216	3	4	168	1	0	0	0	0	1	0	0	0	7176	884	31	1	242	1	HIST1H4L	6	27841216	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	27436149	27841216	143273851	25	9478											
STK38	11329	genome.wustl.edu	37	6	36466221	36466221	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr6:36466221T>G	ENST00000229812.7	-	11	1280	c.995A>C	c.(994-996)aAg>aCg	p.K332T		NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.K332T(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCACCTTCTTATATGTCTC	0.418																																					Colon(180;997 3561 16158)											1	Substitution - Missense(1)	ovary(1)	6											104	105	104					6																	36466221		2203	4300	6503	36574199	SO:0001583	missense	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.995A>C	6.37:g.36466221T>G	ENSP00000229812:p.Lys332Thr		36574199		Missense_Mutation	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039269	0.75617	.	.	ENSG00000112079	ENST00000229812	T	0.44083	0.93	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042888	0.85682	D	0.000000	T	0.29256	0.0728	L	0.33293	1	0.51233	D	0.999913	B	0.33940	0.433	B	0.40565	0.333	T	0.26467	-1.0102	10	0.87932	D	0	.	16.3469	0.83138	0.0:0.0:0.0:1.0	.	332	Q15208	STK38_HUMAN	T	332	ENSP00000229812:K332T	ENSP00000229812:K332T	K	-	2	0	STK38	36574199	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.663000	0.68038	2.263000	0.75096	0.528000	0.53228	AAG		0.418	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		G	36466221	T	G	36466221	3	3	168	1	0	0	0	0	1	0	0	0	15305	1609	56	5	418	5	STK38	6	36466221	Missense_Mutation	SNP	T	TCGA-23-1021-01B-01W-0488-09	8625005	36466221	134648846	26	9479											
RWDD1	51389	genome.wustl.edu	37	6	116914220	116914221	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr6:116914220_116914221CC>AA	ENST00000466444.2	+	7	904_905	c.688_689CC>AA	c.(688-690)CCa>AAa	p.P230K	RWDD1_ENST00000487832.2_Missense_Mutation_p.P134K|RWDD1_ENST00000392526.1_Missense_Mutation_p.P134K	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	230								p.P230Q(1)|p.P230T(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TGAAGATGATCCAGACTATAAT	0.475																																																2	Substitution - Missense(2)	ovary(2)	6																																								117020913|117020914	SO:0001583	missense	51389			AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	Exception_encountered	6.37:g.116914220_116914221delinsAA	ENSP00000420357:p.Pro230Lys		117020913|117020914	A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Missense_Mutation	SNP	ENST00000466444.2	37	CCDS34520.1																																																																																				0.475	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041952.2	NM_015952		AA	116914221	CC	AA	116914220	3	1	168	1	0	0	0	0	1	0	0	0	13757	855	30	3	714	3	RWDD1	6	116914220	Missense_Mutation	DNP	CC	TCGA-23-1021-01B-01W-0488-09	80447999	116914220	54200847	27	9480											
FAM184A	79632	genome.wustl.edu	37	6	119324733	119324733	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr6:119324733C>G	ENST00000338891.7	-	8	2313	c.1870G>C	c.(1870-1872)Gaa>Caa	p.E624Q	FAM184A_ENST00000521531.1_Missense_Mutation_p.E624Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E504Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.E504Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	624						extracellular space (GO:0005615)		p.E624Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCTCTTCTTCTTTCATGGCA	0.328																																																1	Substitution - Missense(1)	ovary(1)	6											103	94	97					6																	119324733		1830	4088	5918	119366432	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1870G>C	6.37:g.119324733C>G	ENSP00000342604:p.Glu624Gln		119366432	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631512	0.29068	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	6.07	5.19	0.71726	.	0.159662	0.53938	N	0.000053	T	0.28001	0.0690	L	0.41236	1.265	0.80722	D	1	P;B;P	0.42785	0.747;0.031;0.79	P;B;P	0.50378	0.56;0.028;0.639	T	0.04413	-1.0953	10	0.16896	T	0.51	-13.5885	17.4412	0.87565	0.0:0.8756:0.1244:0.0	.	624;504;624	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	624;504;504;624	ENSP00000342604:E624Q;ENSP00000326608:E504Q;ENSP00000357460:E504Q;ENSP00000430442:E624Q	ENSP00000342604:E624Q	E	-	1	0	FAM184A	119366432	1.000000	0.71417	0.950000	0.38849	0.381000	0.30169	2.738000	0.47401	1.563000	0.49615	-0.182000	0.12963	GAA		0.328	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		G	119324733	C	G	119324733	3	3	168	1	0	0	0	0	1	0	0	0	5511	922	32	3	1596	3	FAM184A	6	119324733	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	2410513	119324733	51790334	28	9481											
ZNF479	90827	genome.wustl.edu	37	7	57188088	57188088	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr7:57188088C>G	ENST00000331162.4	-	5	1304	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R345I(1)|p.R345T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTATGTCT	0.443																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	7											22	23	23					7																	57188088		2072	4243	6315	57192030	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1034G>C	7.37:g.57188088C>G	ENSP00000333776:p.Arg345Thr		57192030		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	8.464	0.856076	0.17106	.	.	ENSG00000185177	ENST00000331162	T	0.02421	4.3	0.946	-0.375	0.12509	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	M	0.75615	2.305	0.23879	N	0.99658	D	0.55172	0.97	P	0.44477	0.451	T	0.20338	-1.0278	9	0.66056	D	0.02	.	5.3914	0.16245	0.551:0.449:0.0:0.0	.	345	Q96JC4	ZN479_HUMAN	T	345	ENSP00000333776:R345T	ENSP00000333776:R345T	R	-	2	0	ZNF479	57192030	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	-0.467000	0.06664	-1.303000	0.02332	-1.323000	0.01288	AGA		0.443	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		G	57188088	C	G	57188088	3	3	168	1	0	0	0	0	1	0	0	0	17933	913	32	3	544	3	ZNF479	7	57188088	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09		57188088	101950575	29	9482											
LAMB1	3912	genome.wustl.edu	37	7	107572701	107572701	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr7:107572701G>A	ENST00000222399.6	-	28	4540	c.4310C>T	c.(4309-4311)gCa>gTa	p.A1437V	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Missense_Mutation_p.A1461V	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1437	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.A1437V(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGCGTTGTGTGCAACAGTAAC	0.572																																																1	Substitution - Missense(1)	ovary(1)	7											174	159	164					7																	107572701		2203	4300	6503	107359937	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4310C>T	7.37:g.107572701G>A	ENSP00000222399:p.Ala1437Val		107359937	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306026	0.95629	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.37058	1.22;1.22	5.06	5.06	0.68205	.	.	.	.	.	T	0.46580	0.1400	M	0.78456	2.415	0.80722	D	1	P;P	0.45672	0.864;0.751	B;B	0.42214	0.38;0.287	T	0.57573	-0.7788	9	0.87932	D	0	.	18.6114	0.91286	0.0:0.0:1.0:0.0	.	1437;1461	P07942;G3XAI2	LAMB1_HUMAN;.	V	1461;1437	ENSP00000377191:A1461V;ENSP00000222399:A1437V	ENSP00000222399:A1437V	A	-	2	0	LAMB1	107359937	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	9.263000	0.95617	2.627000	0.88993	0.655000	0.94253	GCA		0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107572701	G	A	107572701	3	1	168	1	0	0	0	0	1	0	0	0	8610	1319	46	2	1078	2	LAMB1	7	107572701	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	50384613	107572701	51565962	30	9483											
KEL	3792	genome.wustl.edu	37	7	142641429	142641429	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr7:142641429G>A	ENST00000355265.2	-	13	1946	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	491					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.A491V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTCTTGTCGGGCCAGCTCTGG	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											100	96	98					7																	142641429		2203	4300	6503	142351551	SO:0001583	missense	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1472C>T	7.37:g.142641429G>A	ENSP00000347409:p.Ala491Val		142351551	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	3.368	-0.129103	0.06753	.	.	ENSG00000197993	ENST00000355265	T	0.81330	-1.48	4.85	3.04	0.35103	.	0.495107	0.18686	N	0.134019	T	0.73329	0.3573	M	0.61703	1.905	0.09310	N	0.999999	B	0.26483	0.15	B	0.15052	0.012	T	0.61865	-0.6975	10	0.38643	T	0.18	-7.4579	7.2994	0.26411	0.2:0.0:0.8:0.0	.	491	P23276	KELL_HUMAN	V	491	ENSP00000347409:A491V	ENSP00000347409:A491V	A	-	2	0	KEL	142351551	0.134000	0.22483	0.181000	0.23098	0.088000	0.18126	0.481000	0.22260	0.645000	0.30675	0.591000	0.81541	GCC		0.527	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142641429	G	A	142641429	3	1	168	1	0	0	0	0	1	0	0	0	8142	1203	42	2	754	2	KEL	7	142641429	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	35068728	142641429	16497234	31	9484											
ABP1	26	genome.wustl.edu	37	7	150554202	150554202	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr7:150554202C>A	ENST00000493429.1	+	4	1228	c.644C>A	c.(643-645)aCt>aAt	p.T215N	AOC1_ENST00000467291.1_Missense_Mutation_p.T215N|AOC1_ENST00000360937.4_Missense_Mutation_p.T215N|AOC1_ENST00000416793.2_Missense_Mutation_p.T215N			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	215					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.T215N(1)								Amiloride(DB00594)	CTGCACCCCACTGGGCTGGAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	7											74	79	78					7																	150554202		2043	4188	6231	150185135	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.644C>A	7.37:g.150554202C>A	ENSP00000418614:p.Thr215Asn		150185135	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543231	0.45280	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	4.88	4.01	0.46588	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.392825	0.28420	N	0.015411	T	0.52500	0.1738	M	0.82056	2.57	0.37333	D	0.91004	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.60581	-0.7235	10	0.66056	D	0.02	-5.5083	7.3726	0.26810	0.0:0.8085:0.0:0.1915	.	215;215	C9J690;P19801	.;ABP1_HUMAN	N	215;215;215;215;215;91;215	ENSP00000418614:T215N;ENSP00000418328:T215N;ENSP00000418557:T215N;ENSP00000354193:T215N;ENSP00000411613:T215N;ENSP00000417392:T215N	ENSP00000354193:T215N	T	+	2	0	ABP1	150185135	0.783000	0.28701	0.888000	0.34837	0.567000	0.35839	2.386000	0.44380	1.291000	0.44653	-0.258000	0.10820	ACT		0.612	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		A	150554202	C	A	150554202	3	1	168	1	0	0	0	0	1	0	0	0	98	565	20	3	646	3	ABP1	7	150554202	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	7912773	150554202	8584461	32	9485											
MTUS1	57509	genome.wustl.edu	37	8	17612588	17612588	+	Silent	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr8:17612588G>A	ENST00000262102.6	-	2	953	c.729C>T	c.(727-729)taC>taT	p.Y243Y	MTUS1_ENST00000381862.3_Silent_p.Y243Y|MTUS1_ENST00000381869.3_Silent_p.Y243Y|MTUS1_ENST00000519263.1_Silent_p.Y243Y	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	243					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Y243Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AAAATGCTGTGTAAGTCATGT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	8											188	166	173					8																	17612588		1917	4121	6038	17656868	SO:0001819	synonymous_variant	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.729C>T	8.37:g.17612588G>A			17656868	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	CCDS43717.1																																																																																				0.413	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		A	17612588	G	A	17612588	2	1	168	1	0	0	0	0	0	0	0	1	9965	1372	48	2		2	MTUS1	8	17612588	Silent	SNP	G	TCGA-23-1021-01B-01W-0488-09		17612588	128751434	33	9486											
TMEM67	91147	genome.wustl.edu	37	8	94768048	94768048	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr8:94768048A>G	ENST00000453321.3	+	2	324	c.266A>G	c.(265-267)aAt>aGt	p.N89S	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	89					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.N79S(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATGATCTCTAATAATGGAGGA	0.264																																																1	Substitution - Missense(1)	ovary(1)	8											34	34	34					8																	94768048		2202	4292	6494	94837224	SO:0001583	missense	91147			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.266A>G	8.37:g.94768048A>G	ENSP00000389998:p.Asn89Ser		94837224	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360885	0.41801	.	.	ENSG00000164953	ENST00000453321;ENST00000453906	T;T	0.67698	-0.28;-0.28	5.91	2.27	0.28462	Growth factor, receptor (1);	0.371931	0.32987	N	0.005416	T	0.55768	0.1941	L	0.50333	1.59	0.80722	D	1	B;P;P	0.45715	0.006;0.865;0.782	B;B;B	0.43478	0.005;0.421;0.419	T	0.50311	-0.8843	10	0.11182	T	0.66	-8.6769	8.1057	0.30885	0.7715:0.0:0.2285:0.0	.	89;89;89	Q5HYA8;F8WCQ6;E5RH38	MKS3_HUMAN;.;.	S	89	ENSP00000389998:N89S;ENSP00000403035:N89S	ENSP00000314488:N79S	N	+	2	0	TMEM67	94837224	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.062000	0.41413	0.160000	0.19432	-0.297000	0.09499	AAT		0.264	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		G	94768048	A	G	94768048	3	3	168	1	0	0	0	0	1	0	0	0	16196	101	4	4	272	4	TMEM67	8	94768048	Missense_Mutation	SNP	A	TCGA-23-1021-01B-01W-0488-09	77155460	94768048	51595974	34	9487											
ZCCHC6	79670	genome.wustl.edu	37	9	88937965	88937965	+	Silent	SNP	G	G	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr9:88937965G>T	ENST00000375963.3	-	13	2872	c.2700C>A	c.(2698-2700)ggC>ggA	p.G900G	ZCCHC6_ENST00000375960.2_Silent_p.G777G|ZCCHC6_ENST00000375961.2_Silent_p.G900G|ZCCHC6_ENST00000277141.6_Silent_p.G189G|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	900	Glu-rich.			G -> V (in Ref. 1; CAI45944). {ECO:0000305}.	RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.G900G(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TAGCAGCTTCGCCTAACTCAT	0.423																																																2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	9											173	147	156					9																	88937965		2203	4300	6503	88127785	SO:0001819	synonymous_variant	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2700C>A	9.37:g.88937965G>T			88127785	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	CCDS35057.1																																																																																				0.423	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		T	88937965	G	T	88937965	2	4	168	1	0	0	0	0	0	0	0	1	17592	1074	38	3		3	ZCCHC6	9	88937965	Silent	SNP	G	TCGA-23-1021-01B-01W-0488-09		88937965	52275466	35	9488											
TSTD2	158427	genome.wustl.edu	37	9	100368460	100368460	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr9:100368460G>T	ENST00000341170.4	-	7	1301	c.919C>A	c.(919-921)Ctt>Att	p.L307I	TSTD2_ENST00000354801.2_Missense_Mutation_p.L47I	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	307	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.							p.L307I(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CAATCAAGAAGGATAGTATCA	0.353																																																1	Substitution - Missense(1)	ovary(1)	9											117	116	117					9																	100368460		2203	4300	6503	99408281	SO:0001583	missense	158427			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.919C>A	9.37:g.100368460G>T	ENSP00000342499:p.Leu307Ile		99408281	A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552202	0.45487	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.27104	1.69;1.69;1.69	5.18	3.31	0.37934	Rhodanese-like (5);	0.066943	0.64402	N	0.000014	T	0.17916	0.0430	L	0.41492	1.28	0.32895	D	0.512421	B;B	0.33477	0.013;0.413	B;B	0.35607	0.032;0.206	T	0.14172	-1.0482	10	0.20046	T	0.44	-5.0176	5.6795	0.17767	0.1448:0.0:0.666:0.1892	.	81;307	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	I	81;307;47;47	ENSP00000342499:L307I;ENSP00000364308:L47I;ENSP00000346856:L47I	ENSP00000342499:L307I	L	-	1	0	TSTD2	99408281	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.989000	0.40707	1.490000	0.48466	0.655000	0.94253	CTT		0.353	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		T	100368460	G	T	100368460	3	4	168	1	0	0	0	0	1	0	0	0	16675	1000	35	3	647	3	TSTD2	9	100368460	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	11430495	100368460	40844971	36	9489											
GATA3	2625	genome.wustl.edu	37	10	8100551	8100551	+	Silent	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr10:8100551G>A	ENST00000346208.3	+	3	980	c.525G>A	c.(523-525)tcG>tcA	p.S175S	GATA3_ENST00000379328.3_Silent_p.S175S|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	175					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.S175S(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGGCCGGCTCGGCCCGGCAGG	0.711			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Substitution - coding silent(1)	ovary(1)	10											48	48	48					10																	8100551		2203	4298	6501	8140557	SO:0001819	synonymous_variant	2625			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.525G>A	10.37:g.8100551G>A			8140557	Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	CCDS7083.1																																																																																				0.711	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		A	8100551	G	A	8100551	2	1	168	1	0	0	0	0	0	0	0	1	6255	1103	39	1		1	GATA3	10	8100551	Silent	SNP	G	TCGA-23-1021-01B-01W-0488-09		8100551	127434196	37	9490											
NMT2	9397	genome.wustl.edu	37	10	15161468	15161468	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr10:15161468G>C	ENST00000378165.4	-	9	1124	c.1044C>G	c.(1042-1044)atC>atG	p.I348M	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Missense_Mutation_p.I160M|NMT2_ENST00000378150.1_Missense_Mutation_p.I335M|NMT2_ENST00000535341.1_Missense_Mutation_p.I335M	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	348					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.I348M(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GAACTGATTTGATATCTTTTG	0.448																																					Melanoma(117;1345 1645 4130 12688 30625)											1	Substitution - Missense(1)	ovary(1)	10											185	170	175					10																	15161468		2203	4300	6503	15201474	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1044C>G	10.37:g.15161468G>C	ENSP00000367407:p.Ile348Met		15201474	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828134	0.32329	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.51325	0.71	5.69	1.51	0.23008	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.408273	0.29424	N	0.012198	T	0.49012	0.1532	M	0.75777	2.31	0.37720	D	0.92487	B;B;B	0.19445	0.002;0.036;0.02	B;B;B	0.41666	0.096;0.363;0.257	T	0.46596	-0.9180	9	.	.	.	-5.754	0.9799	0.01433	0.293:0.2741:0.2924:0.1406	.	348;335;348	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	M	348;335;379;160;335	ENSP00000367407:I348M	.	I	-	3	3	NMT2	15201474	0.995000	0.38212	0.672000	0.29872	0.944000	0.59088	0.457000	0.21875	0.326000	0.23384	0.655000	0.94253	ATC		0.448	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		C	15161468	G	C	15161468	3	2	168	1	0	0	0	0	1	0	0	0	10504	1280	45	3	468	3	NMT2	10	15161468	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	7060917	15161468	120373279	38	9491											
ARHGAP21	57584	genome.wustl.edu	37	10	24874562	24874562	+	Silent	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr10:24874562C>T	ENST00000396432.2	-	26	5142	c.4656G>A	c.(4654-4656)acG>acA	p.T1552T		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1551					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.T1551T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCTGGGAAGACGTGCTGAGCA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	10											73	76	75					10																	24874562		2203	4297	6500	24914568	SO:0001819	synonymous_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4656G>A	10.37:g.24874562C>T			24914568	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	CCDS7144.2																																																																																				0.532	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		T	24874562	C	T	24874562	2	4	168	1	0	0	0	0	0	0	0	1	871	523	19	1		1	ARHGAP21	10	24874562	Silent	SNP	C	TCGA-23-1021-01B-01W-0488-09	9713094	24874562	110660185	39	9492											
BMS1	9790	genome.wustl.edu	37	10	43289414	43289414	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr10:43289414G>T	ENST00000374518.5	+	9	1267	c.1204G>T	c.(1204-1206)Ggg>Tgg	p.G402W		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	402					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.G402W(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAAGCCACTTGGGTCAGAGGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	10											75	71	72					10																	43289414		2203	4300	6503	42609420	SO:0001583	missense	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1204G>T	10.37:g.43289414G>T	ENSP00000363642:p.Gly402Trp		42609420	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.217840	0.79352	.	.	ENSG00000165733	ENST00000374518	T	0.08896	3.04	5.66	5.66	0.87406	.	0.307408	0.39341	N	0.001396	T	0.28632	0.0709	M	0.67397	2.05	0.39361	D	0.965928	D	0.71674	0.998	D	0.66497	0.944	T	0.00507	-1.1699	10	0.56958	D	0.05	.	19.8188	0.96583	0.0:0.0:1.0:0.0	.	402	Q14692	BMS1_HUMAN	W	402	ENSP00000363642:G402W	ENSP00000363642:G402W	G	+	1	0	BMS1	42609420	1.000000	0.71417	0.974000	0.42286	0.889000	0.51656	5.541000	0.67212	2.678000	0.91216	0.644000	0.83932	GGG		0.408	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		T	43289414	G	T	43289414	3	4	168	1	0	0	0	0	1	0	0	0	1472	1348	47	3	1234	3	BMS1	10	43289414	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	18414852	43289414	92245333	40	9493											
AGAP7	653268	genome.wustl.edu	37	10	51464832	51464832	+	Missense_Mutation	SNP	G	G	A	rs201336718		TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr10:51464832G>A	ENST00000374095.5	-	7	1749	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		542	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R542W(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CGGATCCACCGTTCCTTCTCT	0.567																																																1	Substitution - Missense(1)	ovary(1)	10											102	122	115					10																	51464832		2197	4296	6493	51134838	SO:0001583	missense	653268																														ENST00000374095.5:c.1624C>T	10.37:g.51464832G>A	ENSP00000363208:p.Arg542Trp		51134838	A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	4.642	0.119289	0.08881	.	.	ENSG00000204169	ENST00000374095	T	0.45276	0.9	.	.	.	.	0.299915	0.36854	N	0.002361	T	0.44456	0.1294	M	0.91300	3.195	0.51012	D	0.999903	B	0.17465	0.022	B	0.24269	0.052	T	0.11518	-1.0584	9	0.49607	T	0.09	.	4.7371	0.12993	0.3267:0.0:0.6733:0.0	.	542	Q5VUJ5	AGAP7_HUMAN	W	542	ENSP00000363208:R542W	ENSP00000363208:R542W	R	-	1	2	AGAP7	51134838	1.000000	0.71417	0.027000	0.17364	0.028000	0.11728	2.209000	0.42806	-1.187000	0.02709	-1.176000	0.01726	CGG		0.567	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			A	51464832	G	A	51464832	3	1	168	1	0	0	0	0	1	0	0	0	373	1144	40	1	371	1	AGAP7	10	51464832	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	8175418	51464832	84069915	41	9494											
SLC22A8	9376	genome.wustl.edu	37	11	62767255	62767255	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr11:62767255C>G	ENST00000336232.2	-	4	632	c.497G>C	c.(496-498)gGt>gCt	p.G166A	SLC22A8_ENST00000311438.8_Missense_Mutation_p.G166A|SLC22A8_ENST00000535878.1_Missense_Mutation_p.G43A|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G166A|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G75A	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	166					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.G166A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GAAGGCTGCACCGGAGCCGCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											52	54	53					11																	62767255		2201	4298	6499	62523831	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.497G>C	11.37:g.62767255C>G	ENSP00000337335:p.Gly166Ala		62523831	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	6.758	0.508688	0.12883	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.45	4.53	0.55603	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.323361	0.37393	N	0.002107	T	0.51822	0.1697	N	0.05330	-0.07	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.25614	0.037;0.062	T	0.30822	-0.9965	10	0.07030	T	0.85	.	11.4959	0.50408	0.1796:0.8204:0.0:0.0	.	166;166	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	A	166;152;75;43;166;166	ENSP00000337335:G166A;ENSP00000441658:G75A;ENSP00000443368:G43A;ENSP00000311463:G166A;ENSP00000398548:G166A	ENSP00000311463:G166A	G	-	2	0	SLC22A8	62523831	0.001000	0.12720	0.001000	0.08648	0.879000	0.50718	1.476000	0.35420	1.287000	0.44583	0.511000	0.50034	GGT		0.612	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		G	62767255	C	G	62767255	3	3	168	1	0	0	0	0	1	0	0	0	14463	507	18	3	1163	3	SLC22A8	11	62767255	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09		62767255	72239261	42	9495											
FAT3	120114	genome.wustl.edu	37	11	92568103	92568103	+	Silent	SNP	C	C	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr11:92568103C>A	ENST00000298047.6	+	14	9956	c.9939C>A	c.(9937-9939)gcC>gcA	p.A3313A	FAT3_ENST00000525166.1_Silent_p.A3163A|FAT3_ENST00000409404.2_Silent_p.A3313A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3313	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3313A(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGTGGAAGCCAAAGATGGGG	0.463										TCGA Ovarian(4;0.039)																																						1	Substitution - coding silent(1)	ovary(1)	11											37	38	38					11																	92568103		1890	4122	6012	92207751	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9939C>A	11.37:g.92568103C>A			92207751	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92568103	C	A	92568103	2	1	168	1	0	0	0	0	0	0	0	1	5691	581	21	3		3	FAT3	11	92568103	Silent	SNP	C	TCGA-23-1021-01B-01W-0488-09	29800848	92568103	42438413	43	9496											
SORL1	6653	genome.wustl.edu	37	11	121421296	121421296	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr11:121421296A>G	ENST00000260197.7	+	16	2312	c.2183A>G	c.(2182-2184)tAc>tGc	p.Y728C		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	728					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.Y728C(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGTGACAGCTACCGGAAGATT	0.552																																																1	Substitution - Missense(1)	ovary(1)	11											92	82	85					11																	121421296		2203	4299	6502	120926506	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2183A>G	11.37:g.121421296A>G	ENSP00000260197:p.Tyr728Cys		120926506	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434745	0.83885	.	.	ENSG00000137642	ENST00000260197	D	0.95342	-3.68	5.03	5.03	0.67393	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98249	1.0492	10	0.54805	T	0.06	.	14.9166	0.70801	1.0:0.0:0.0:0.0	.	728	Q92673	SORL_HUMAN	C	728	ENSP00000260197:Y728C	ENSP00000260197:Y728C	Y	+	2	0	SORL1	120926506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.568000	0.90741	2.111000	0.64477	0.533000	0.62120	TAC		0.552	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		G	121421296	A	G	121421296	3	3	168	1	0	0	0	0	1	0	0	0	14937	391	14	4	2245	4	SORL1	11	121421296	Missense_Mutation	SNP	A	TCGA-23-1021-01B-01W-0488-09	28853193	121421296	13585220	44	9497											
SLC2A3	6515	genome.wustl.edu	37	12	8086490	8086490	+	Silent	SNP	T	T	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr12:8086490T>C	ENST00000075120.7	-	2	264	c.24A>G	c.(22-24)ccA>ccG	p.P8P		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	8					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.P8P(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATATCAGAGCTGGGGTGACCT	0.453																																					Colon(96;424 1461 14416 20933 23688)											1	Substitution - coding silent(1)	ovary(1)	12											83	78	79					12																	8086490		2203	4300	6503	7977757	SO:0001819	synonymous_variant	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.24A>G	12.37:g.8086490T>C			7977757	B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	CCDS8586.1																																																																																				0.453	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		C	8086490	T	C	8086490	2	2	168	1	0	0	0	0	0	0	0	1	14548	1567	55	4		4	SLC2A3	12	8086490	Silent	SNP	T	TCGA-23-1021-01B-01W-0488-09		8086490	125765405	45	9498											
FAIM2	23017	genome.wustl.edu	37	12	50282968	50282968	+	Silent	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr12:50282968G>A	ENST00000320634.3	-	10	763	c.669C>T	c.(667-669)tgC>tgT	p.C223C	FAIM2_ENST00000550890.1_Silent_p.C177C	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	223					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)		p.C223C(1)		endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GCACGCCCTGGCAGGAGGTGA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	12											82	70	74					12																	50282968		2203	4300	6503	48569235	SO:0001819	synonymous_variant	23017			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 2"	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.669C>T	12.37:g.50282968G>A			48569235	A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Silent	SNP	ENST00000320634.3	37	CCDS8791.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064934	0.76187	.	.	ENSG00000135472	ENST00000552863	.	.	.	4.61	3.7	0.42460	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53373	-0.8448	4	.	.	.	-14.7913	7.8711	0.29567	0.1186:0.0:0.8814:0.0	.	.	.	.	S	92	.	.	P	-	1	0	FAIM2	48569235	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	1.736000	0.38187	0.915000	0.36847	0.462000	0.41574	CCA		0.597	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		A	50282968	G	A	50282968	2	1	168	1	0	0	0	0	0	0	0	1	5376	1195	42	2		2	FAIM2	12	50282968	Silent	SNP	G	TCGA-23-1021-01B-01W-0488-09	42196478	50282968	83568927	46	9499											
SMARCD1	6602	genome.wustl.edu	37	12	50492572	50492572	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr12:50492572G>A	ENST00000394963.4	+	12	1866	c.1468G>A	c.(1468-1470)Gct>Act	p.A490T	SMARCD1_ENST00000548573.1_Missense_Mutation_p.A288T|SMARCD1_ENST00000381513.4_Missense_Mutation_p.A449T	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1									p.A451T(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GGCTCAGGAGGCTGTGTGCCG	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											82	76	78					12																	50492572		2203	4300	6503	48778839	SO:0001583	missense	6602			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.1468G>A	12.37:g.50492572G>A	ENSP00000378414:p.Ala490Thr		48778839		Missense_Mutation	SNP	ENST00000394963.4	37	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868535	0.91587	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000542914;ENST00000548573	T;T	0.60040	0.22;0.78	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.82857	0.5128	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.87578	0.979;0.998;0.98	D	0.86749	0.1959	10	0.72032	D	0.01	-11.5665	19.1359	0.93428	0.0:0.0:1.0:0.0	.	288;449;490	F8VRQ4;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	T	490;449;266;288	ENSP00000378414:A490T;ENSP00000370924:A449T	ENSP00000370924:A449T	A	+	1	0	SMARCD1	48778839	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.657000	0.98554	2.837000	0.97791	0.591000	0.81541	GCT		0.562	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		A	50492572	G	A	50492572	3	1	168	1	0	0	0	0	1	0	0	0	14780	1203	42	2	1514	2	SMARCD1	12	50492572	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	209604	50492572	83359323	47	9500											
DGKA	1606	genome.wustl.edu	37	12	56334146	56334146	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr12:56334146G>T	ENST00000331886.5	+	11	1301	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.D283Y|DGKA_ENST00000394147.1_Missense_Mutation_p.D283Y	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	283					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.D283Y(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CGGGCGCTGCGACCGCTGTCA	0.587											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											120	114	116					12																	56334146		2203	4300	6503	54620413	SO:0001583	missense	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.847G>T	12.37:g.56334146G>T	ENSP00000328405:p.Asp283Tyr	1014	54620413	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106779	0.94292	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.21	5.21	0.72293	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.154081	0.53938	D	0.000042	D	0.94683	0.8285	L	0.38175	1.15	0.80722	D	1	D;D;D	0.76494	0.983;0.999;0.994	P;D;D	0.68943	0.747;0.941;0.961	D	0.94878	0.8036	10	0.66056	D	0.02	.	18.063	0.89383	0.0:0.0:1.0:0.0	.	202;283;283	G3V4E1;B4E0C6;P23743	.;.;DGKA_HUMAN	Y	283;202;283;283	ENSP00000328405:D283Y;ENSP00000451743:D202Y;ENSP00000377703:D283Y;ENSP00000450359:D283Y	ENSP00000328405:D283Y	D	+	1	0	DGKA	54620413	1.000000	0.71417	0.979000	0.43373	0.971000	0.66376	4.952000	0.63618	2.871000	0.98454	0.655000	0.94253	GAC		0.587	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			T	56334146	G	T	56334146	3	4	168	1	0	0	0	0	1	0	0	0	4465	1058	37	3	885	3	DGKA	12	56334146	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	5841574	56334146	77517749	48	9501											
HTR2A	3356	genome.wustl.edu	37	13	47409196	47409196	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr13:47409196G>C	ENST00000378688.4	-	3	1323	c.1192C>G	c.(1192-1194)Cag>Gag	p.Q398E	HTR2A_ENST00000543956.1_Missense_Mutation_p.Q314E|HTR2A_ENST00000542664.1_Missense_Mutation_p.Q398E			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	398					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.Q398E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCCTTGTACTGACACTGAATA	0.398																																																1	Substitution - Missense(1)	ovary(1)	13											138	132	134					13																	47409196		2203	4300	6503	46307197	SO:0001583	missense	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1192C>G	13.37:g.47409196G>C	ENSP00000367959:p.Gln398Glu		46307197	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122593	0.37436	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.37235	1.21;1.21;1.21	5.61	5.61	0.85477	.	0.191349	0.46758	D	0.000278	T	0.39410	0.1077	M	0.61703	1.905	0.34826	D	0.739197	B;B	0.24963	0.115;0.0	B;B	0.25614	0.062;0.004	T	0.43572	-0.9383	10	0.21014	T	0.42	.	19.074	0.93151	0.0:0.0:1.0:0.0	.	314;398	F5GWE8;P28223	.;5HT2A_HUMAN	E	398;314;398	ENSP00000367959:Q398E;ENSP00000441861:Q314E;ENSP00000437737:Q398E	ENSP00000367959:Q398E	Q	-	1	0	HTR2A	46307197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.540000	0.82074	2.823000	0.97156	0.644000	0.83932	CAG		0.398	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		C	47409196	G	C	47409196	3	2	168	1	0	0	0	0	1	0	0	0	7441	1299	45	3	227	3	HTR2A	13	47409196	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09		47409196	67760682	49	9502											
DZIP1	22873	genome.wustl.edu	37	13	96277050	96277050	+	Nonsense_Mutation	SNP	A	A	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr13:96277050A>T	ENST00000376829.2	-	8	1795	c.944T>A	c.(943-945)tTa>tAa	p.L315*	DZIP1_ENST00000361156.3_Nonsense_Mutation_p.L315*|DZIP1_ENST00000347108.3_Nonsense_Mutation_p.L315*|DZIP1_ENST00000361396.2_Nonsense_Mutation_p.L315*	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	315					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L315*(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTTCGAAGTTAATTCTTTAAA	0.333																																																1	Substitution - Nonsense(1)	ovary(1)	13											101	94	97					13																	96277050		2195	4300	6495	95075051	SO:0001587	stop_gained	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.944T>A	13.37:g.96277050A>T	ENSP00000366025:p.Leu315*		95075051	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Nonsense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	A	46	12.138188	0.99639	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	.	.	.	5.4	5.4	0.78164	.	0.172533	0.38720	N	0.001593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3929	15.7186	0.77688	1.0:0.0:0.0:0.0	.	.	.	.	X	315	.	ENSP00000257312:L315X	L	-	2	0	DZIP1	95075051	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	6.667000	0.74451	2.174000	0.68829	0.533000	0.62120	TTA		0.333	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		T	96277050	A	T	96277050	4	4	168	1	0	0	0	0	0	1	0	0	4863	372	13	5	1723	5	DZIP1	13	96277050	Nonsense_Mutation	SNP	A	TCGA-23-1021-01B-01W-0488-09	48867854	96277050	18892828	50	9503											
OR11H12	440153	genome.wustl.edu	37	14	19377700	19377700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr14:19377700G>A	ENST00000550708.1	+	1	179	c.107G>A	c.(106-108)tGg>tAg	p.W36*		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W36*(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTGTGAGTGGACAATTCAG	0.433																																																1	Substitution - Nonsense(1)	ovary(1)	14											67	68	68					14																	19377700		2199	4296	6495	18447700	SO:0001587	stop_gained	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.107G>A	14.37:g.19377700G>A	ENSP00000449002:p.Trp36*		18447700		Nonsense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	12.34	1.907553	0.33721	.	.	ENSG00000257115	ENST00000550708	.	.	.	.	.	.	.	0.431515	0.17171	U	0.184292	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.4784	0.22049	2.0E-4:0.0:0.9998:0.0	.	.	.	.	X	36	.	ENSP00000449002:W36X	W	+	2	0	CR383656.1	18447700	0.000000	0.05858	0.593000	0.28771	0.151000	0.21798	-2.602000	0.00891	0.413000	0.25759	0.064000	0.15345	TGG		0.433	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		A	19377700	G	A	19377700	4	1	168	1	0	0	0	0	0	1	0	0	10927	1357	47	2	109	2	OR11H12	14	19377700	Nonsense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09		19377700	87971840	51	9504											
SIPA1L1	26037	genome.wustl.edu	37	14	72055680	72055680	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr14:72055680C>G	ENST00000555818.1	+	2	1439	c.1091C>G	c.(1090-1092)tCc>tGc	p.S364C	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S364C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S364C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	364					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.S364C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGAGCTTCCGCAGCTGCC	0.473																																																1	Substitution - Missense(1)	ovary(1)	14											57	60	59					14																	72055680		2203	4300	6503	71125433	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1091C>G	14.37:g.72055680C>G	ENSP00000450832:p.Ser364Cys		71125433	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693670	0.48202	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.90788	-2.73;-2.68;-2.73	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.995;1.0;0.99	D	0.95452	0.8535	10	0.87932	D	0	-9.8067	20.6593	0.99626	0.0:1.0:0.0:0.0	.	364;364;364	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	C	364	ENSP00000370630:S364C;ENSP00000450832:S364C;ENSP00000351352:S364C	ENSP00000351352:S364C	S	+	2	0	SIPA1L1	71125433	1.000000	0.71417	0.741000	0.31004	0.026000	0.11368	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	TCC		0.473	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		G	72055680	C	G	72055680	3	3	168	1	0	0	0	0	1	0	0	0	14332	855	30	3	1093	3	SIPA1L1	14	72055680	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	52677980	72055680	35293860	52	9505											
BRF1	2972	genome.wustl.edu	37	14	105684006	105684006	+	Silent	SNP	G	G	T	rs149163711		TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr14:105684006G>T	ENST00000546474.1	-	15	16606	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000547530.1_Silent_p.A75A|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Silent_p.A434A|BRF1_ENST00000379937.2_Silent_p.A522A|BRF1_ENST00000392557.4_Silent_p.A345A|BRF1_ENST00000446501.2_Silent_p.A311A|BRF1_ENST00000440513.3_Silent_p.A456A	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	549					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)	p.A549A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TGCCCCCGCCGGCGCTGCTGA	0.637																																																1	Substitution - coding silent(1)	ovary(1)	14											42	38	39					14																	105684006		2203	4300	6503	104755051	SO:0001819	synonymous_variant	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1647C>A	14.37:g.105684006G>T			104755051	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	ENST00000546474.1	37	CCDS10001.1																																																																																				0.637	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		T	105684006	G	T	105684006	2	4	168	1	0	0	0	0	0	0	0	1	1510	1103	39	3		3	BRF1	14	105684006	Silent	SNP	G	TCGA-23-1021-01B-01W-0488-09	33628326	105684006	1665534	53	9506											
LINS1	55180	genome.wustl.edu	37	15	101121005	101121005	+	Missense_Mutation	SNP	C	C	A	rs117825322		TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr15:101121005C>A	ENST00000314742.8	-	2	265	c.43G>T	c.(43-45)Gta>Tta	p.V15L	LINS_ENST00000560133.1_Splice_Site|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.V15L	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	15								p.V15L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CCAAGAAGTACCTTCTTGTAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	15											41	39	40					15																	101121005		2203	4300	6503	98938528	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.43G>T	15.37:g.101121005C>A	ENSP00000318423:p.Val15Leu		98938528	Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112130	0.56398	.	.	ENSG00000140471	ENST00000314742	T	0.37915	1.17	5.63	3.76	0.43208	.	0.106561	0.41396	D	0.000881	T	0.37183	0.0994	L	0.36672	1.1	0.80722	D	1	P;P	0.51351	0.944;0.869	P;P	0.50754	0.649;0.556	T	0.12319	-1.0552	10	0.62326	D	0.03	-13.9968	10.5516	0.45092	0.0:0.8519:0.0:0.1481	.	15;15	Q8NG48-2;Q8NG48	.;LINES_HUMAN	L	15	ENSP00000318423:V15L	ENSP00000318423:V15L	V	-	1	0	LINS	98938528	0.005000	0.15991	0.923000	0.36655	0.889000	0.51656	-0.002000	0.12924	0.732000	0.32470	0.650000	0.86243	GTA		0.358	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		A	101121005	C	A	101121005	3	1	168	1	0	0	0	0	1	0	0	0	8818	507	18	3	2254	3	LINS1	15	101121005	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09		101121005	1410387	54	9507											
PHLPP2	23035	genome.wustl.edu	37	16	71736603	71736604	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	TC	TC	TC	AA	TC	TC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr16:71736603_71736604TC>AA	ENST00000568954.1	-	3	693_694	c.315_316GA>TT	c.(313-318)caGAtc>caTTtc	p.105_106QI>HF	PHLPP2_ENST00000356272.3_Missense_Mutation_p.105_106QI>HF|PHLPP2_ENST00000567016.1_Missense_Mutation_p.140_141QI>HF|PHLPP2_ENST00000360429.3_Missense_Mutation_p.105_106QI>HF|PHLPP2_ENST00000393524.2_Missense_Mutation_p.105_106QI>HF			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	105					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCATAAACGATCTGAAGAGGTC	0.361																																																0			16																																								70294105	SO:0001583	missense	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.315_316delinsAA	16.37:g.71736603_71736604delinsAA	ENSP00000457991:p.Q105_I106delinsHF		70294104	A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	DNP	ENST00000568954.1	37	CCDS32479.1																																																																																				0.361	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		AA	71736604	TC	AA	71736603	3	1	168	1	0	0	0	0	1	0	0	0	11855	1435	50	5	3723	5	PHLPP2	16	71736603	Missense_Mutation	DNP	TC	TCGA-23-1021-01B-01W-0488-09		71736603	18618150	55	9508											
TP53	7157	genome.wustl.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr17:7578454G>A	ENST00000269305.4	-	5	665	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000420246.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V	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	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)	GATGGCCATGGCGCGGACGCG	0.627		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"	81	Substitution - Missense(42)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - frameshift(2)	central_nervous_system(15)|large_intestine(13)|lung(13)|stomach(6)|breast(6)|ovary(6)|oesophagus(4)|bone(4)|liver(4)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|prostate(1)	17											50	51	51					17																	7578454		2203	4300	6503	7519179	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.476C>T	17.37:g.7578454G>A	ENSP00000269305:p.Ala159Val		7519179	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	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211949	0.58452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.59	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99594	0.9853	L	0.49513	1.565	0.50171	D	0.999855	D;P;B;D;P;P;D	0.67145	0.984;0.881;0.358;0.989;0.832;0.769;0.996	P;P;B;P;P;P;P	0.59703	0.774;0.616;0.255;0.741;0.814;0.632;0.862	D	0.98152	1.0442	10	0.87932	D	0	-9.0177	10.7596	0.46258	0.0:0.2672:0.5942:0.1386	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159V;ENSP00000352610:A159V;ENSP00000269305:A159V;ENSP00000398846:A159V;ENSP00000391127:A159V;ENSP00000391478:A159V;ENSP00000425104:A27V;ENSP00000423862:A66V;ENSP00000424104:A159V	ENSP00000269305:A159V	A	-	2	0	TP53	7519179	1.000000	0.71417	0.377000	0.26055	0.171000	0.22731	7.969000	0.87988	0.364000	0.24374	-0.176000	0.13171	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578454	G	A	7578454	3	1	168	1	0	0	0	0	1	0	0	0	16381	1203	42	2	822	2	TP53	17	7578454	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09		7578454	73616756	56	9509											
MYO18A	399687	genome.wustl.edu	37	17	27448204	27448204	+	Missense_Mutation	SNP	C	C	T	rs372515961		TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr17:27448204C>T	ENST00000527372.1	-	6	1577	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	MYO18A_ENST00000531253.1_Missense_Mutation_p.R466Q|MYO18A_ENST00000533112.1_Missense_Mutation_p.R466Q|MYO18A_ENST00000354329.4_Missense_Mutation_p.R466Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	466	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.R466Q(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTCCTCCCGCCGACAACCCTT	0.577																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											1	Substitution - Missense(1)	ovary(1)	17						C	GLN/ARG,GLN/ARG	2,4276		0,2,2137	30	32	31		1397,1397	5.9	1	17		31	0,8456		0,0,4228	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	43,43	0,2,6365	TT,TC,CC		0.0,0.0468,0.0157	possibly-damaging,possibly-damaging	466/2055,466/2040	27448204	2,12732	2139	4228	6367	24472330	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1397G>A	17.37:g.27448204C>T	ENSP00000437073:p.Arg466Gln		24472330	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	37	6.008283	0.97195	4.68E-4	0.0	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428;ENST00000531686	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.92	5.92	0.95590	Myosin head, motor domain (2);	0.055154	0.64402	D	0.000001	D	0.91858	0.7423	L	0.56340	1.77	0.49389	D	0.999787	P;D;D;D;D	0.76494	0.923;0.998;0.998;0.998;0.999	P;P;P;P;D	0.63488	0.473;0.845;0.845;0.845;0.915	D	0.91799	0.5450	10	0.72032	D	0.01	.	19.9311	0.97118	0.0:1.0:0.0:0.0	.	135;78;466;466;466	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	Q	466;466;466;466;466;78;146	ENSP00000346291:R466Q;ENSP00000435932:R466Q;ENSP00000434228:R466Q;ENSP00000437073:R466Q	ENSP00000346291:R466Q	R	-	2	0	MYO18A	24472330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.653000	0.67967	2.813000	0.96785	0.561000	0.74099	CGG		0.577	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27448204	C	T	27448204	3	4	168	1	0	0	0	0	1	0	0	0	10065	652	23	1	4915	1	MYO18A	17	27448204	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	19869750	27448204	53747006	57	9510											
LRRC37B	114659	genome.wustl.edu	37	17	30376236	30376236	+	Silent	SNP	A	A	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr17:30376236A>G	ENST00000341671.7	+	10	2504	c.2499A>G	c.(2497-2499)acA>acG	p.T833T	LRRC37B_ENST00000394713.3_Silent_p.T782T|LRRC37B_ENST00000543378.2_Silent_p.T751T|LRRC37B_ENST00000327564.7_Silent_p.T860T|LRRC37B_ENST00000584368.1_Silent_p.T794T	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	833						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T833T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GTTCAGAAACACATGTGCAAG	0.498																																																1	Substitution - coding silent(1)	ovary(1)	17											88	79	82					17																	30376236		2203	4300	6503	27400349	SO:0001819	synonymous_variant	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2499A>G	17.37:g.30376236A>G			27400349	Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	CCDS32609.1																																																																																				0.498	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		G	30376236	A	G	30376236	2	3	168	1	0	0	0	0	0	0	0	1	8994	146	6	4		4	LRRC37B	17	30376236	Silent	SNP	A	TCGA-23-1021-01B-01W-0488-09	2928032	30376236	50818974	58	9511											
LHX1	3975	genome.wustl.edu	37	17	35297671	35297671	+	Silent	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr17:35297671C>T	ENST00000254457.5	+	2	1666	c.255C>T	c.(253-255)caC>caT	p.H85H	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	85	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.H85H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AAGTGTTTCACCTGAACTGCT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	17											74	61	66					17																	35297671		2203	4299	6502	32371784	SO:0001819	synonymous_variant	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.255C>T	17.37:g.35297671C>T			32371784	Q3MIW0	Silent	SNP	ENST00000254457.5	37	CCDS11316.1																																																																																				0.567	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		T	35297671	C	T	35297671	2	4	168	1	0	0	0	0	0	0	0	1	8770	506	18	2		2	LHX1	17	35297671	Silent	SNP	C	TCGA-23-1021-01B-01W-0488-09	4921435	35297671	45897539	59	9512											
CCDC45	90799	genome.wustl.edu	37	17	62523310	62523310	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr17:62523310G>C	ENST00000556440.2	+	11	1744	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	CEP95_ENST00000553412.1_Missense_Mutation_p.D248H|CEP95_ENST00000577476.1_3'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	412						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.D412H(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GGAGGTAGAGGATGGAACTGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	17											96	92	93					17																	62523310		1974	4155	6129	59953772	SO:0001583	missense	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1234G>C	17.37:g.62523310G>C	ENSP00000450461:p.Asp412His		59953772	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117579	0.37339	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.36520	1.25;1.26	3.69	-1.17	0.09648	.	1.141510	0.06187	N	0.680584	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	P	0.36249	0.545	B	0.41946	0.371	T	0.17806	-1.0357	10	0.72032	D	0.01	0.1691	0.3191	0.00300	0.3809:0.1957:0.2335:0.1898	.	412	Q96GE4	CEP95_HUMAN	H	347;412;248	ENSP00000450461:D412H;ENSP00000450906:D248H	ENSP00000438458:D347H	D	+	1	0	CEP95	59953772	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.102000	0.15272	-0.271000	0.09272	-1.078000	0.02229	GAT		0.438	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		C	62523310	G	C	62523310	3	2	168	1	0	0	0	0	1	0	0	0	2816	1174	41	3	1276	3	CCDC45	17	62523310	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	27225639	62523310	18671900	60	9513											
LAMA3	3909	genome.wustl.edu	37	18	21487772	21487772	+	Missense_Mutation	SNP	C	C	A	rs141023743		TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr18:21487772C>A	ENST00000313654.9	+	54	7129	c.6888C>A	c.(6886-6888)aaC>aaA	p.N2296K	LAMA3_ENST00000269217.6_Missense_Mutation_p.N687K|LAMA3_ENST00000587184.1_Missense_Mutation_p.N631K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.N2240K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2296	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.N2296K(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAAAGGCCAACGACATCACAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	18											139	132	134					18																	21487772		2203	4300	6503	19741770	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6888C>A	18.37:g.21487772C>A	ENSP00000324532:p.Asn2296Lys		19741770	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	6.285	0.420750	0.11928	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.49720	0.77;0.77;0.77	5.27	-10.5	0.00291	Laminin II (1);	.	.	.	.	T	0.41236	0.1150	L	0.50333	1.59	0.22511	N	0.999038	B;B;B;B	0.34329	0.264;0.449;0.183;0.183	B;P;B;B	0.44696	0.258;0.458;0.153;0.108	T	0.48422	-0.9037	9	0.33141	T	0.24	.	7.7082	0.28663	0.0699:0.1999:0.1389:0.5912	.	631;687;2240;2296	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	K	2296;2240;687	ENSP00000324532:N2296K;ENSP00000382432:N2240K;ENSP00000269217:N687K	ENSP00000269217:N687K	N	+	3	2	LAMA3	19741770	0.000000	0.05858	0.018000	0.16275	0.170000	0.22686	-3.081000	0.00613	-2.570000	0.00468	-1.224000	0.01588	AAC		0.438	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21487772	C	A	21487772	3	1	168	1	0	0	0	0	1	0	0	0	8607	535	19	3	7277	3	LAMA3	18	21487772	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09		21487772	56589476	61	9514											
NOL4	8715	genome.wustl.edu	37	18	31803086	31803086	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr18:31803086C>A	ENST00000261592.5	-	1	429	c.132G>T	c.(130-132)gaG>gaT	p.E44D	NOL4_ENST00000269185.4_5'UTR|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000538587.1_5'Flank|NOL4_ENST00000535475.1_5'Flank|NOL4_ENST00000590846.1_5'Flank|NOL4_ENST00000589544.1_Missense_Mutation_p.E44D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	44						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.E44D(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGGAGCTCGACTCGGAGCCAT	0.602																																																1	Substitution - Missense(1)	ovary(1)	18											100	104	102					18																	31803086		2033	4175	6208	30057084	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.132G>T	18.37:g.31803086C>A	ENSP00000261592:p.Glu44Asp		30057084	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272135	0.59649	.	.	ENSG00000101746	ENST00000261592	D	0.84442	-1.85	5.72	5.72	0.89469	.	.	.	.	.	T	0.79185	0.4403	L	0.34521	1.04	0.80722	D	1	B;B	0.23128	0.08;0.08	B;B	0.23716	0.048;0.048	T	0.73020	-0.4114	9	0.22109	T	0.4	-10.8333	16.5937	0.84789	0.0:1.0:0.0:0.0	.	44;44	O94818;O94818-2	NOL4_HUMAN;.	D	44	ENSP00000261592:E44D	ENSP00000261592:E44D	E	-	3	2	NOL4	30057084	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.441000	0.59981	2.701000	0.92244	0.561000	0.74099	GAG		0.602	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		A	31803086	C	A	31803086	3	1	168	1	0	0	0	0	1	0	0	0	10524	564	20	3	1828	3	NOL4	18	31803086	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	10315314	31803086	46274162	62	9515											
CXXC1	30827	genome.wustl.edu	37	18	47811704	47811704	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr18:47811704G>C	ENST00000285106.6	-	6	1371	c.657C>G	c.(655-657)ttC>ttG	p.F219L	CXXC1_ENST00000412036.2_Missense_Mutation_p.F219L|CXXC1_ENST00000589940.1_Missense_Mutation_p.F219L|CXXC1_ENST00000587396.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	219					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.F219L(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCGAGGAAGGGAAGTACTTGT	0.677																																																1	Substitution - Missense(1)	ovary(1)	18											39	40	40					18																	47811704		2203	4300	6503	46065702	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.657C>G	18.37:g.47811704G>C	ENSP00000285106:p.Phe219Leu		46065702	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513824	0.44763	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.20881	2.04;2.04	3.85	3.85	0.44370	.	0.209888	0.32190	N	0.006459	T	0.18383	0.0441	L	0.36672	1.1	0.35839	D	0.825883	P;B;B;B	0.43392	0.805;0.219;0.14;0.14	P;B;B;B	0.45506	0.483;0.294;0.153;0.153	T	0.07481	-1.0770	10	0.10111	T	0.7	-12.4459	11.9623	0.53015	0.0:0.0:1.0:0.0	.	219;219;219;86	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	L	219	ENSP00000285106:F219L;ENSP00000390475:F219L	ENSP00000285106:F219L	F	-	3	2	CXXC1	46065702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.637000	0.37155	2.100000	0.63781	0.542000	0.68232	TTC		0.677	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		C	47811704	G	C	47811704	3	2	168	1	0	0	0	0	1	0	0	0	4097	1165	41	3	1365	3	CXXC1	18	47811704	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	16008618	47811704	30265544	63	9516											
CDH7	1005	genome.wustl.edu	37	18	63547997	63547997	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr18:63547997C>T	ENST00000397968.2	+	12	2651	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V	CDH7_ENST00000323011.3_Missense_Mutation_p.A742V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	742					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A742V(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGCTCAGTTGCTGAATCACTC	0.443																																																1	Substitution - Missense(1)	ovary(1)	18											100	103	102					18																	63547997		2203	4300	6503	61698977	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2225C>T	18.37:g.63547997C>T	ENSP00000381058:p.Ala742Val		61698977	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988058	0.53934	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	D;D	0.81908	-1.55;-1.55	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91496	0.7315	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92179	0.5750	10	0.72032	D	0.01	.	19.1123	0.93321	0.0:1.0:0.0:0.0	.	742	Q9ULB5	CADH7_HUMAN	V	742	ENSP00000319166:A742V;ENSP00000381058:A742V	ENSP00000319166:A742V	A	+	2	0	CDH7	61698977	1.000000	0.71417	0.218000	0.23776	0.046000	0.14306	7.818000	0.86416	2.515000	0.84797	0.655000	0.94253	GCT		0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		T	63547997	C	T	63547997	3	4	168	1	0	0	0	0	1	0	0	0	3115	797	28	2	2267	2	CDH7	18	63547997	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	15736293	63547997	14529251	64	9517											
PKN1	5585	genome.wustl.edu	37	19	14580797	14580797	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr19:14580797G>A	ENST00000242783.6	+	18	2455	c.2290G>A	c.(2290-2292)Gag>Aag	p.E764K	PKN1_ENST00000342216.4_Missense_Mutation_p.E770K	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E764K(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCTCTGCAAGGAGGGTGAGGG	0.602																																					NSCLC(185;2539 2965 10733 52867)											1	Substitution - Missense(1)	ovary(1)	19											73	77	75					19																	14580797		2028	4181	6209	14441797	SO:0001583	missense	5585			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2290G>A	19.37:g.14580797G>A	ENSP00000242783:p.Glu764Lys		14441797	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765283	0.90020	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.63255	-0.03;-0.03	4.06	4.06	0.47325	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	0.64402	U	0.000002	T	0.64918	0.2642	N	0.17474	0.49	0.49687	D	0.99981	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	T	0.70978	-0.4725	10	0.87932	D	0	-24.0166	14.0886	0.64975	0.0:0.0:1.0:0.0	.	770;764	Q16512-2;Q16512	.;PKN1_HUMAN	K	764;770	ENSP00000242783:E764K;ENSP00000343325:E770K	ENSP00000242783:E764K	E	+	1	0	PKN1	14441797	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.655000	0.83696	2.255000	0.74692	0.491000	0.48974	GAG		0.602	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		A	14580797	G	A	14580797	3	1	168	1	0	0	0	0	1	0	0	0	11979	1175	41	2	2403	2	PKN1	19	14580797	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09		14580797	44548186	65	9518											
MYO9B	4650	genome.wustl.edu	37	19	17283721	17283721	+	Missense_Mutation	SNP	G	G	C	rs536977695		TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr19:17283721G>C	ENST00000594824.1	+	13	2236	c.2089G>C	c.(2089-2091)Gtg>Ctg	p.V697L	MYO9B_ENST00000397274.2_Missense_Mutation_p.V697L|MYO9B_ENST00000595618.1_Missense_Mutation_p.V697L			Q13459	MYO9B_HUMAN	myosin IXB	697	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.V697L(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGCCATGGCAGTGCTTCGGGA	0.701																																																1	Substitution - Missense(1)	ovary(1)	19											28	33	32					19																	17283721		2038	4172	6210	17144721	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2089G>C	19.37:g.17283721G>C	ENSP00000471367:p.Val697Leu		17144721	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	G	25.2	4.608594	0.87258	.	.	ENSG00000099331	ENST00000397274	D	0.84873	-1.91	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.000000	0.49916	D	0.000139	D	0.89701	0.6791	L	0.54323	1.7	0.47183	D	0.999347	D;D;D	0.59357	0.973;0.973;0.985	D;D;D	0.64506	0.926;0.926;0.922	D	0.90571	0.4522	10	0.59425	D	0.04	.	16.166	0.81757	0.0:0.0:1.0:0.0	.	697;697;703	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	L	697	ENSP00000380444:V697L	ENSP00000380444:V697L	V	+	1	0	MYO9B	17144721	1.000000	0.71417	0.972000	0.41901	0.684000	0.39900	9.672000	0.98629	2.218000	0.71995	0.655000	0.94253	GTG		0.701	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			C	17283721	G	C	17283721	3	2	168	1	0	0	0	0	1	0	0	0	10085	1029	36	3	2135	3	MYO9B	19	17283721	Missense_Mutation	SNP	G	TCGA-23-1021-01B-01W-0488-09	2702924	17283721	41845262	66	9519											
GMIP	51291	genome.wustl.edu	37	19	19745667	19745667	+	Silent	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr19:19745667C>T	ENST00000203556.4	-	17	1958	c.1821G>A	c.(1819-1821)gcG>gcA	p.A607A	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Silent_p.A578A|GMIP_ENST00000587238.1_Silent_p.A581A	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	607	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)	p.A607A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTCCACCAACGCTCGGCCAT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	19											46	47	47					19																	19745667		2203	4300	6503	19606667	SO:0001819	synonymous_variant	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1821G>A	19.37:g.19745667C>T			19606667	A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	CCDS12408.1																																																																																				0.622	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		T	19745667	C	T	19745667	2	4	168	1	0	0	0	0	0	0	0	1	6491	523	19	1		1	GMIP	19	19745667	Silent	SNP	C	TCGA-23-1021-01B-01W-0488-09	2461946	19745667	39383316	67	9520											
CLIP3	25999	genome.wustl.edu	37	19	36508804	36508804	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr19:36508804C>T	ENST00000360535.4	-	10	1500	c.1273G>A	c.(1273-1275)Gcg>Acg	p.A425T	CLIP3_ENST00000593074.1_Missense_Mutation_p.A425T|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	425					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.A425T(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCTGGCCCGCGACAAGGACC	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											93	87	89					19																	36508804		2203	4300	6503	41200644	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1273G>A	19.37:g.36508804C>T	ENSP00000353732:p.Ala425Thr		41200644	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746692	0.69418	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	D	0.91407	-2.84	4.44	4.44	0.53790	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.88481	0.6448	N	0.25144	0.715	0.58432	D	0.999997	D	0.65815	0.995	P	0.54026	0.74	D	0.87748	0.2590	10	0.34782	T	0.22	-16.9113	14.5972	0.68415	0.0:1.0:0.0:0.0	.	425	Q96DZ5	CLIP3_HUMAN	T	425;307;401	ENSP00000353732:A425T	ENSP00000353732:A425T	A	-	1	0	CLIP3	41200644	1.000000	0.71417	0.062000	0.19696	0.731000	0.41821	5.234000	0.65343	2.305000	0.77605	0.561000	0.74099	GCG		0.622	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		T	36508804	C	T	36508804	3	4	168	1	0	0	0	0	1	0	0	0	3534	768	27	1	390	1	CLIP3	19	36508804	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	16763137	36508804	22620179	68	9521											
RYR1	6261	genome.wustl.edu	37	19	39075642	39075642	+	Silent	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr19:39075642C>T	ENST00000359596.3	+	102	14706	c.14706C>T	c.(14704-14706)atC>atT	p.I4902I	RYR1_ENST00000360985.3_Silent_p.I4897I|RYR1_ENST00000355481.4_Silent_p.I4897I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4902					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.I4902I(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGACGAGATCGAGGACCCCG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	19											233	184	201					19																	39075642		2203	4300	6503	43767482	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14706C>T	19.37:g.39075642C>T			43767482	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39075642	C	T	39075642	2	4	168	1	0	0	0	0	0	0	0	1	13771	874	31	1		1	RYR1	19	39075642	Silent	SNP	C	TCGA-23-1021-01B-01W-0488-09	2566838	39075642	20053341	69	9522											
DHX34	9704	genome.wustl.edu	37	19	47861378	47861378	+	Splice_Site	SNP	G	G	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr19:47861378G>C	ENST00000328771.4	+	4	1621		c.e4+1		DHX34_ENST00000471451.1_Splice_Site	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34						negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCAGGACAAGGTATCACAGGA	0.662																																																1	Unknown(1)	ovary(1)	19											21	22	22					19																	47861378		2203	4297	6500	52553216	SO:0001630	splice_region_variant	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1272+1G>C	19.37:g.47861378G>C			52553216	B4DMY8	Splice_Site	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445266	0.63178	.	.	ENSG00000134815	ENST00000328771	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3613	0.87351	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX34	52553216	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	9.317000	0.96327	2.381000	0.81170	0.455000	0.32223	.		0.662	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681	Intron	C	47861378	G	C	47861378	5	2	168	1	0	0	0	0	0	0	1	0	4507	1275	44	3	1283	3	DHX34	19	47861378	Splice_Site	SNP	G	TCGA-23-1021-01B-01W-0488-09	8785736	47861378	11267605	70	9523											
TRPM4	54795	genome.wustl.edu	37	19	49692251	49692251	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr19:49692251T>C	ENST00000252826.5	+	14	2048	c.1922T>C	c.(1921-1923)cTc>cCc	p.L641P	TRPM4_ENST00000355712.5_Missense_Mutation_p.L287P|TRPM4_ENST00000427978.2_Missense_Mutation_p.L641P	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	641					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.L641P(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCTGCCCGCCTCCTCCTCCGT	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											84	91	89					19																	49692251		2203	4300	6503	54384063	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1922T>C	19.37:g.49692251T>C	ENSP00000252826:p.Leu641Pro		54384063	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	t	19.74	3.883042	0.72410	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	D;D;D	0.88586	-2.4;-2.4;-2.4	4.32	4.32	0.51571	.	0.184216	0.35013	N	0.003501	D	0.93943	0.8061	M	0.80847	2.515	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.987	D	0.94583	0.7781	10	0.87932	D	0	-4.7145	12.8427	0.57813	0.0:0.0:0.0:1.0	.	287;467;641;641	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	P	641;641;287	ENSP00000252826:L641P;ENSP00000407492:L641P;ENSP00000347944:L287P	ENSP00000252826:L641P	L	+	2	0	TRPM4	54384063	0.981000	0.34729	0.051000	0.19133	0.114000	0.19823	6.963000	0.76055	1.750000	0.51863	0.373000	0.22412	CTC		0.632	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		C	49692251	T	C	49692251	3	2	168	1	0	0	0	0	1	0	0	0	16588	1551	54	4	1976	4	TRPM4	19	49692251	Missense_Mutation	SNP	T	TCGA-23-1021-01B-01W-0488-09	1830873	49692251	9436732	71	9524											
NLRP13	126204	genome.wustl.edu	37	19	56423125	56423125	+	Silent	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr19:56423125C>T	ENST00000342929.3	-	5	2057	c.2058G>A	c.(2056-2058)aaG>aaA	p.K686K	NLRP13_ENST00000588751.1_Silent_p.K686K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	686							ATP binding (GO:0005524)	p.K686K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAAGCCTTAGCTTATTTAACC	0.383																																																1	Substitution - coding silent(1)	ovary(1)	19											90	96	94					19																	56423125		2203	4300	6503	61114937	SO:0001819	synonymous_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2058G>A	19.37:g.56423125C>T			61114937	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																				0.383	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		T	56423125	C	T	56423125	2	4	168	1	0	0	0	0	0	0	0	1	10475	796	28	2		2	NLRP13	19	56423125	Silent	SNP	C	TCGA-23-1021-01B-01W-0488-09	6730874	56423125	2705858	72	9525											
FAM113A	64773	genome.wustl.edu	37	20	2819116	2819116	+	Silent	SNP	G	G	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr20:2819116G>A	ENST00000360652.2	-	6	1105	c.603C>T	c.(601-603)ccC>ccT	p.P201P	VPS16_ENST00000380469.3_5'Flank|VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Silent_p.P150P	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	201								p.P201P(1)									AGCCTGCCAGGGGCTGGAGCT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	20											48	53	52					20																	2819116		2203	4300	6503	2767116	SO:0001819	synonymous_variant	64773			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.603C>T	20.37:g.2819116G>A			2767116	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Silent	SNP	ENST00000360652.2	37	CCDS13035.1																																																																																				0.562	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		A	2819116	G	A	2819116	2	1	168	1	0	0	0	0	0	0	0	1	5401	1219	43	2		2	FAM113A	20	2819116	Silent	SNP	G	TCGA-23-1021-01B-01W-0488-09		2819116	60206404	73	9526											
MACROD2	140733	genome.wustl.edu	37	20	15843439	15843439	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr20:15843439A>C	ENST00000310348.4	+	9	695	c.695A>C	c.(694-696)tAc>tCc	p.Y232S	MACROD2_ENST00000217246.4_Missense_Mutation_p.Y232S|MACROD2_ENST00000378058.3_5'Flank|MACROD2_ENST00000402914.1_5'UTR			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	232	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.Y232S(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTCAAAATCTACAAAAAGAAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	20											93	93	93					20																	15843439		2203	4300	6503	15791439	SO:0001583	missense	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.695A>C	20.37:g.15843439A>C	ENSP00000309809:p.Tyr232Ser		15791439	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306137	0.60305	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.26373	1.74;1.74	5.6	4.46	0.54185	Appr-1-p processing (1);	0.000000	0.43260	D	0.000596	T	0.61211	0.2329	H	0.96970	3.915	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.981	T	0.70710	-0.4797	10	0.56958	D	0.05	-6.409	9.632	0.39785	0.7809:0.0:0.0:0.2191	.	232;232	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	S	232	ENSP00000217246:Y232S;ENSP00000309809:Y232S	ENSP00000217246:Y232S	Y	+	2	0	MACROD2	15791439	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.196000	0.42686	2.139000	0.66308	0.455000	0.32223	TAC		0.358	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		C	15843439	A	C	15843439	3	2	168	1	0	0	0	0	1	0	0	0	9146	391	14	5	729	5	MACROD2	20	15843439	Missense_Mutation	SNP	A	TCGA-23-1021-01B-01W-0488-09	13024323	15843439	47182081	74	9527											
KCNE1	3753	genome.wustl.edu	37	21	35821549	35821549	+	Silent	SNP	G	G	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr21:35821549G>T	ENST00000337385.3	-	3	759	c.384C>A	c.(382-384)tcC>tcA	p.S128S	KCNE1_ENST00000399286.2_Silent_p.S128S|KCNE1_ENST00000432085.1_Silent_p.S128S|KCNE1_ENST00000399289.3_Silent_p.S128S|KCNE1_ENST00000399284.1_Silent_p.S128S|KCNE1_ENST00000416357.2_Silent_p.S128S	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	128					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)	p.S128S(1)		large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GGGTTCATGGGGAAGGCTTCG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	21											158	173	168					21																	35821549		2203	4299	6502	34743419	SO:0001819	synonymous_variant	3753			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"Potassium channels"	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.384C>A	21.37:g.35821549G>T			34743419	A5H1P2|Q8N709|Q91Z94	Silent	SNP	ENST00000337385.3	37	CCDS13636.1																																																																																				0.502	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			T	35821549	G	T	35821549	2	4	168	1	0	0	0	0	0	0	0	1	8021	1219	43	3		3	KCNE1	21	35821549	Silent	SNP	G	TCGA-23-1021-01B-01W-0488-09		35821549	12308346	75	9528											
CLTCL1	8218	genome.wustl.edu	37	22	19175514	19175514	+	Silent	SNP	C	C	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr22:19175514C>A	ENST00000263200.10	-	28	4485	c.4413G>T	c.(4411-4413)ctG>ctT	p.L1471L	CLTCL1_ENST00000353891.5_Silent_p.L1471L|CLTCL1_ENST00000427926.1_Silent_p.L1471L|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1471	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.L1471L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCTCCTCTGTCAGCAGGTGGT	0.587			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - coding silent(1)	ovary(1)	22											178	181	180					22																	19175514		2055	4183	6238	17555514	SO:0001819	synonymous_variant	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4413G>T	22.37:g.19175514C>A			17555514	B7Z7U5|Q14017|Q15808|Q15809	Nonstop_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																				0.587	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19175514	C	A	19175514	2	1	168	1	0	0	0	0	0	0	0	1	3567	813	29	3		3	CLTCL1	22	19175514	Silent	SNP	C	TCGA-23-1021-01B-01W-0488-09		19175514	32129052	76	9529											
CYTH4	27128	genome.wustl.edu	37	22	37695333	37695333	+	Silent	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chr22:37695333C>T	ENST00000248901.6	+	6	607	c.420C>T	c.(418-420)ctC>ctT	p.L140L	CYTH4_ENST00000405206.3_Silent_p.L140L|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Silent_p.L140L	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	140	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.L140L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						ACCTCAACCTCGTCCAGGCCC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	22											50	45	47					22																	37695333		2203	4300	6503	36025279	SO:0001819	synonymous_variant	27128			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.420C>T	22.37:g.37695333C>T			36025279	Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	CCDS13946.1																																																																																				0.662	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			T	37695333	C	T	37695333	2	4	168	1	0	0	0	0	0	0	0	1	4206	871	31	1		1	CYTH4	22	37695333	Silent	SNP	C	TCGA-23-1021-01B-01W-0488-09	18519819	37695333	13609233	77	9530											
SLC9A7	84679	genome.wustl.edu	37	X	46521558	46521558	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chrX:46521558T>G	ENST00000328306.4	-	7	959	c.934A>C	c.(934-936)Act>Cct	p.T312P		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	312					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.T312P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AAGGCGTGAGTGTTCAGTCCC	0.413																																					Pancreas(118;454 1696 1930 13865 39976)											1	Substitution - Missense(1)	ovary(1)	X											60	49	53					X																	46521558		2203	4300	6503	46406502	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.934A>C	X.37:g.46521558T>G	ENSP00000330320:p.Thr312Pro		46406502	O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101983	0.56183	.	.	ENSG00000065923	ENST00000328306	T	0.57595	0.39	5.02	3.77	0.43336	Cation/H+ exchanger (1);	0.099738	0.64402	D	0.000002	T	0.39682	0.1087	N	0.03324	-0.35	0.58432	D	0.999998	P;B	0.40230	0.708;0.009	P;B	0.53313	0.723;0.008	T	0.28235	-1.0050	10	0.22706	T	0.39	.	10.148	0.42776	0.1513:0.0:0.0:0.8487	.	83;312	B3KPP8;Q96T83	.;SL9A7_HUMAN	P	312	ENSP00000330320:T312P	ENSP00000330320:T312P	T	-	1	0	SLC9A7	46406502	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.765000	0.68834	1.785000	0.52413	0.486000	0.48141	ACT		0.413	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		G	46521558	T	G	46521558	3	3	168	1	0	0	0	0	1	0	0	0	14722	1696	59	5	1287	5	SLC9A7	23	46521558	Missense_Mutation	SNP	T	TCGA-23-1021-01B-01W-0488-09		46521558	108749002	78	9531											
CLCN5	1184	genome.wustl.edu	37	X	49850698	49850698	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chrX:49850698T>A	ENST00000307367.2	+	7	1076	c.785T>A	c.(784-786)gTa>gAa	p.V262E	CLCN5_ENST00000376091.3_Missense_Mutation_p.V332E|CLCN5_ENST00000376108.3_Missense_Mutation_p.V262E|CLCN5_ENST00000376088.3_Missense_Mutation_p.V332E			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	262					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.V262E(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATAGGTGGAGTATTATTCAGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											167	142	151					X																	49850698		2203	4300	6503	49737438	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.785T>A	X.37:g.49850698T>A	ENSP00000304257:p.Val262Glu		49737438	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199903	0.79015	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	6.04	6.04	0.98038	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98563	0.9520	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.99429	1.0935	10	0.87932	D	0	-16.9653	14.4009	0.67044	0.0:0.0:0.0:1.0	.	262;332	P51795;P51795-2	CLCN5_HUMAN;.	E	332;164;332;262;262	ENSP00000365256:V332E;ENSP00000365259:V332E;ENSP00000365276:V262E;ENSP00000304257:V262E	ENSP00000304257:V262E	V	+	2	0	CLCN5	49737438	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.910000	0.87451	2.047000	0.60756	0.430000	0.28490	GTA		0.403	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			A	49850698	T	A	49850698	3	1	168	1	0	0	0	0	1	0	0	0	3466	1638	57	5	1025	5	CLCN5	23	49850698	Missense_Mutation	SNP	T	TCGA-23-1021-01B-01W-0488-09	3329140	49850698	105419862	79	9532											
IRS4	8471	genome.wustl.edu	37	X	107977213	107977213	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chrX:107977213C>T	ENST00000372129.2	-	1	2438	c.2362G>A	c.(2362-2364)Gca>Aca	p.A788T	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	788	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.A788T(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTTGGAATTGCACCGGCTCCA	0.483																																																1	Substitution - Missense(1)	ovary(1)	X											130	137	135					X																	107977213		2203	4300	6503	107863869	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2362G>A	X.37:g.107977213C>T	ENSP00000361202:p.Ala788Thr		107863869		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664596	0.47572	.	.	ENSG00000133124	ENST00000372129	T	0.17213	2.29	5.33	4.45	0.53987	.	0.380105	0.27393	N	0.019580	T	0.26738	0.0654	M	0.63428	1.95	0.25970	N	0.982515	D	0.57257	0.979	P	0.54759	0.76	T	0.13415	-1.0510	10	0.62326	D	0.03	-13.6959	6.2438	0.20805	0.2421:0.6615:0.0:0.0964	.	788	O14654	IRS4_HUMAN	T	788	ENSP00000361202:A788T	ENSP00000361202:A788T	A	-	1	0	IRS4	107863869	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.994000	0.49433	2.447000	0.82792	0.600000	0.82982	GCA		0.483	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		T	107977213	C	T	107977213	3	4	168	1	0	0	0	0	1	0	0	0	7842	710	25	2	1415	2	IRS4	23	107977213	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	58126515	107977213	47293347	80	9533											
ZNF449	203523	genome.wustl.edu	37	X	134493888	134493888	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1021-01B-01W-0488-09	TCGA-23-1021-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	4f14d366-4750-471f-98a1-a01934365ee1	88c16b55-b357-4328-ace7-6e5cab2f75aa	g.chrX:134493888C>A	ENST00000339249.4	+	4	771	c.631C>A	c.(631-633)Cag>Aag	p.Q211K		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	211					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.Q211K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGAATTACAGGATTCTAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	X											102	98	100					X																	134493888		2203	4299	6502	134321554	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.631C>A	X.37:g.134493888C>A	ENSP00000339585:p.Gln211Lys		134321554	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	8.992	0.977968	0.18812	.	.	ENSG00000173275	ENST00000339249	T	0.05447	3.44	4.85	1.95	0.26073	.	0.161421	0.29572	N	0.011763	T	0.03871	0.0109	N	0.24115	0.695	0.34113	D	0.663263	B	0.19583	0.037	B	0.22880	0.042	T	0.38090	-0.9677	10	0.12103	T	0.63	.	7.3958	0.26936	0.0:0.5836:0.3197:0.0967	.	211	Q6P9G9	ZN449_HUMAN	K	211	ENSP00000339585:Q211K	ENSP00000339585:Q211K	Q	+	1	0	ZNF449	134321554	0.021000	0.18746	0.955000	0.39395	0.979000	0.70002	0.985000	0.29578	0.529000	0.28599	0.523000	0.50628	CAG		0.333	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		A	134493888	C	A	134493888	3	1	168	1	0	0	0	0	1	0	0	0	17920	479	17	3	641	3	ZNF449	23	134493888	Missense_Mutation	SNP	C	TCGA-23-1021-01B-01W-0488-09	26516675	134493888	20776672	81	9534											
SLC2A5	6518	genome.wustl.edu	37	1	9098913	9098913	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:9098913C>T	ENST00000377424.4	-	9	1251	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	SLC2A5_ENST00000535586.1_Missense_Mutation_p.V243M|SLC2A5_ENST00000536305.1_Missense_Mutation_p.V299M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	358					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.V358M(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGTGAGCACGCAGCAGGCT	0.667																																																1	Substitution - Missense(1)	ovary(1)	1											17	19	18					1																	9098913		2197	4297	6494	9021500	SO:0001583	missense	6518			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1072G>A	1.37:g.9098913C>T	ENSP00000366641:p.Val358Met		9021500	Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	CCDS99.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.418149	0.42918	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.76316	-1.01;-1.01;-1.01	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.131786	0.52532	D	0.000073	D	0.87521	0.6198	M	0.83384	2.64	0.47621	D	0.999479	D;D;D	0.69078	0.986;0.997;0.986	P;D;P	0.65684	0.803;0.937;0.861	D	0.88036	0.2778	10	0.49607	T	0.09	.	14.3269	0.66526	0.0:0.8507:0.1493:0.0	.	314;299;358	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	M	358;341;299;243	ENSP00000366641:V358M;ENSP00000440688:V299M;ENSP00000442744:V243M	ENSP00000366641:V358M	V	-	1	0	SLC2A5	9021500	0.209000	0.23505	0.962000	0.40283	0.185000	0.23345	0.610000	0.24253	2.553000	0.86117	0.655000	0.94253	GTG		0.667	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		T	9098913	C	T	9098913	3	4	169	1	0	0	0	0	1	0	0	0	14551	536	19	1	449	1	SLC2A5	1	9098913	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09		9098913	240151708	1	9535											
PAX7	5081	genome.wustl.edu	37	1	18960889	18960889	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:18960889G>C	ENST00000375375.3	+	2	776	c.178G>C	c.(178-180)Gtg>Ctg	p.V60L	PAX7_ENST00000420770.2_Missense_Mutation_p.V60L|PAX7_ENST00000400661.3_Missense_Mutation_p.V60L	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	60	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.|Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V60L(1)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CCACAAGATAGTGGAGATGGC	0.612			T	FOXO1A	alveolar rhabdomyosarcoma																																		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	1	Substitution - Missense(1)	ovary(1)	1											52	48	50					1																	18960889		2203	4300	6503	18833476	SO:0001583	missense	5081			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.178G>C	1.37:g.18960889G>C	ENSP00000364524:p.Val60Leu		18833476	E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	CCDS186.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139650	0.94560	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.99537	-6.11;-6.11;-6.11	5.34	5.34	0.76211	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.068847	0.64402	D	0.000017	D	0.99606	0.9857	M	0.83384	2.64	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.992	D;D;D	0.81914	0.995;0.991;0.971	D	0.98072	1.0399	10	0.87932	D	0	.	17.6184	0.88074	0.0:0.0:1.0:0.0	.	60;60;60	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	L	60	ENSP00000364524:V60L;ENSP00000403389:V60L;ENSP00000383502:V60L	ENSP00000364524:V60L	V	+	1	0	PAX7	18833476	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.799000	0.99117	2.499000	0.84300	0.462000	0.41574	GTG		0.612	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		C	18960889	G	C	18960889	3	2	169	1	0	0	0	0	1	0	0	0	11484	1029	36	3	184	3	PAX7	1	18960889	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	9861976	18960889	230289732	2	9536											
HSPG2	3339	genome.wustl.edu	37	1	22205548	22205548	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:22205548T>C	ENST00000374695.3	-	18	2489	c.2410A>G	c.(2410-2412)Atg>Gtg	p.M804V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	804	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.M804V(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTGGCCTTCATGGCGTCCCCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											67	67	67					1																	22205548		2203	4300	6503	22078135	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2410A>G	1.37:g.22205548T>C	ENSP00000363827:p.Met804Val		22078135	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951062	0.53186	.	.	ENSG00000142798	ENST00000374695	T	0.60920	0.15	5.33	5.33	0.75918	EGF-like, laminin (4);	0.184216	0.26231	N	0.025578	T	0.27900	0.0687	N	0.00637	-1.305	0.23036	N	0.998394	B	0.02656	0.0	B	0.01281	0.0	T	0.30909	-0.9962	10	0.66056	D	0.02	.	13.2647	0.60127	0.0:0.0:0.0:1.0	.	804	P98160	PGBM_HUMAN	V	804	ENSP00000363827:M804V	ENSP00000363827:M804V	M	-	1	0	HSPG2	22078135	1.000000	0.71417	0.876000	0.34364	0.971000	0.66376	2.581000	0.46077	2.008000	0.58898	0.454000	0.30748	ATG		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		C	22205548	T	C	22205548	3	2	169	1	0	0	0	0	1	0	0	0	7430	1464	51	4	11085	4	HSPG2	1	22205548	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	3244659	22205548	227045073	3	9537											
WDTC1	23038	genome.wustl.edu	37	1	27632830	27632830	+	Missense_Mutation	SNP	G	G	A	rs138646253		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:27632830G>A	ENST00000319394.3	+	16	2525	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	WDTC1_ENST00000361771.3_Missense_Mutation_p.D663N	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	664					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)	p.D663N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGCCTCTGATGATGAGGACAG	0.667																																																1	Substitution - Missense(1)	ovary(1)	1						G	ASN/ASP	0,4406		0,0,2203	41	45	43		1987	4.4	0.6	1	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDTC1	NM_015023.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	663/677	27632830	1,13005	2203	4300	6503	27505417	SO:0001583	missense	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1990G>A	1.37:g.27632830G>A	ENSP00000317971:p.Asp664Asn		27505417	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37		.	.	.	.	.	.	.	.	.	.	G	16.58	3.163624	0.57476	0.0	1.16E-4	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.63913	-0.07;-0.07	5.33	4.39	0.52855	.	0.094576	0.64402	D	0.000001	T	0.44435	0.1293	N	0.08118	0	0.53005	D	0.999963	B;B	0.25609	0.079;0.13	B;B	0.29440	0.047;0.102	T	0.39603	-0.9606	10	0.41790	T	0.15	.	14.5891	0.68351	0.0:0.0:0.8529:0.1471	.	664;663	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	N	664;663	ENSP00000317971:D664N;ENSP00000355317:D663N	ENSP00000317971:D664N	D	+	1	0	WDTC1	27505417	1.000000	0.71417	0.617000	0.29091	0.905000	0.53344	9.414000	0.97362	1.339000	0.45563	0.655000	0.94253	GAT		0.667	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		A	27632830	G	A	27632830	3	1	169	1	0	0	0	0	1	0	0	0	17342	1290	45	2	2045	2	WDTC1	1	27632830	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	5427282	27632830	221617791	4	9538											
COL16A1	1307	genome.wustl.edu	37	1	32151712	32151712	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:32151712C>T	ENST00000373672.3	-	28	2380	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	COL16A1_ENST00000271069.6_Missense_Mutation_p.A621T|COL16A1_ENST00000373668.3_Missense_Mutation_p.A622T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	622	Collagen-like 2.|Triple-helical region 7 (COL7) with 1 imperfection.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.A622T(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTGATGCCTGCTGGCCCCACT	0.597																																					Colon(143;498 1786 21362 25193 36625)											1	Substitution - Missense(1)	ovary(1)	1											95	107	103					1																	32151712		2120	4224	6344	31924299	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1864G>A	1.37:g.32151712C>T	ENSP00000362776:p.Ala622Thr		31924299	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	7.855	0.724804	0.15439	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	D;D;D	0.93604	-3.25;-2.58;-3.25	5.53	1.13	0.20643	.	0.844778	0.10606	N	0.655043	D	0.85191	0.5640	N	0.22421	0.69	0.21652	N	0.9996	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.12837	0.003;0.008;0.005	T	0.69669	-0.5083	10	0.14656	T	0.56	.	6.7909	0.23699	0.1464:0.7493:0.0:0.1043	.	622;622;622	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	T	622;621;622	ENSP00000362776:A622T;ENSP00000271069:A621T;ENSP00000362772:A622T	ENSP00000271069:A621T	A	-	1	0	COL16A1	31924299	0.859000	0.29813	0.556000	0.28293	0.122000	0.20287	0.386000	0.20702	0.326000	0.23384	0.563000	0.77884	GCA		0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32151712	C	T	32151712	3	4	169	1	0	0	0	0	1	0	0	0	3673	797	28	2	3126	2	COL16A1	1	32151712	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	4518882	32151712	217098909	5	9539											
ZSCAN20	7579	genome.wustl.edu	37	1	33959131	33959131	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:33959131A>G	ENST00000361328.3	+	7	1942	c.1789A>G	c.(1789-1791)Act>Gct	p.T597A		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	597					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T597A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TAGTGCTGAGACTGATGCCCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											130	135	133					1																	33959131		2102	4231	6333	33731718	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1789A>G	1.37:g.33959131A>G	ENSP00000355053:p.Thr597Ala		33731718	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.461166	0.00171	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	4.34	0.213	0.15244	.	0.925114	0.09139	N	0.843286	T	0.07369	0.0186	N	0.00642	-1.3	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35549	-0.9784	9	0.02654	T	1	0.4354	6.8621	0.24072	0.4373:0.0:0.5627:0.0	.	596;597	P17040-3;P17040	.;ZSC20_HUMAN	A	597;531;531	.	ENSP00000324450:T597A	T	+	1	0	ZSCAN20	33731718	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-0.185000	0.09684	-0.059000	0.13154	-0.242000	0.12053	ACT		0.582	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		G	33959131	A	G	33959131	3	3	169	1	0	0	0	0	1	0	0	0	18232	275	10	4	1811	4	ZSCAN20	1	33959131	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	1807419	33959131	215291490	6	9540											
LRRC39	127495	genome.wustl.edu	37	1	100618068	100618068	+	Silent	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:100618068G>A	ENST00000370137.1	-	9	1023	c.825C>T	c.(823-825)ttC>ttT	p.F275F	LRRC39_ENST00000342895.3_Silent_p.F275F|LRRC39_ENST00000370138.1_Silent_p.F275F	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	275								p.F275F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GGTTGTCTCTGAAGTTGACAA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	1											107	102	104					1																	100618068		2203	4300	6503	100390656	SO:0001819	synonymous_variant	127495			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.825C>T	1.37:g.100618068G>A			100390656	B3KUD2|D3DT56|Q5VVK7	Silent	SNP	ENST00000370137.1	37	CCDS766.1																																																																																				0.373	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		A	100618068	G	A	100618068	2	1	169	1	0	0	0	0	0	0	0	1	8995	1281	45	2		2	LRRC39	1	100618068	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	66658937	100618068	148632553	7	9541											
GJA8	2703	genome.wustl.edu	37	1	147381251	147381251	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:147381251A>G	ENST00000369235.1	+	1	1169	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	GJA8_ENST00000240986.4_Missense_Mutation_p.K390R			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	390					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.K390R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAGTCGGAGAAGGTGTCAAAG	0.577																																					Melanoma(76;1255 1795 8195 52096)											1	Substitution - Missense(1)	ovary(1)	1											54	58	56					1																	147381251		2203	4300	6503	145847875	SO:0001583	missense	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1169A>G	1.37:g.147381251A>G	ENSP00000358238:p.Lys390Arg		145847875	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	N	0.911	-0.719159	0.03182	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97710	-4.5;-4.5	5.31	-0.0276	0.13926	.	3.328010	0.01636	U	0.023780	D	0.83394	0.5245	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83794	0.0232	10	0.19147	T	0.46	.	2.2679	0.04083	0.4047:0.1267:0.0727:0.396	.	390	P48165	CXA8_HUMAN	R	390	ENSP00000240986:K390R;ENSP00000358238:K390R	ENSP00000240986:K390R	K	+	2	0	GJA8	145847875	0.992000	0.36948	0.003000	0.11579	0.235000	0.25334	0.511000	0.22739	-0.168000	0.10853	-0.327000	0.08410	AAG		0.577	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		G	147381251	A	G	147381251	3	3	169	1	0	0	0	0	1	0	0	0	6405	72	3	4	1171	4	GJA8	1	147381251	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	46763183	147381251	101869370	8	9542											
BOLA1	51027	genome.wustl.edu	37	1	149871669	149871669	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:149871669G>C	ENST00000369153.2	+	3	721	c.57G>C	c.(55-57)ttG>ttC	p.L19F	BOLA1_ENST00000369150.1_Missense_Mutation_p.L19F|BOLA1_ENST00000476344.1_Intron|BOLA1_ENST00000369152.5_Missense_Mutation_p.L19F			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	19						extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.L19F(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGTTTGTTTGTGCCAGGGCA	0.682																																																1	Substitution - Missense(1)	ovary(1)	1											38	44	42					1																	149871669		2203	4300	6503	148138293	SO:0001583	missense	51027			AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"bolA-like 1 (E. coli)", "bolA homolog 1 (E. coli)"			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.57G>C	1.37:g.149871669G>C	ENSP00000358149:p.Leu19Phe		148138293	B2R7K2|D3DUZ4|Q5QNY0	Missense_Mutation	SNP	ENST00000369153.2	37	CCDS939.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334011	0.24253	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	T;T;T	0.46451	0.87;0.87;0.87	4.55	3.62	0.41486	.	0.709712	0.12486	N	0.464665	T	0.11324	0.0276	N	0.14661	0.345	0.25773	N	0.984814	B	0.32968	0.392	B	0.33042	0.157	T	0.11767	-1.0574	10	0.51188	T	0.08	-3.5487	7.5122	0.27579	0.1964:0.0:0.8036:0.0	.	19	Q9Y3E2	BOLA1_HUMAN	F	19	ENSP00000358149:L19F;ENSP00000358148:L19F;ENSP00000358146:L19F	ENSP00000358146:L19F	L	+	3	2	BOLA1	148138293	0.039000	0.19947	0.978000	0.43139	0.076000	0.17211	0.529000	0.23019	1.233000	0.43693	0.455000	0.32223	TTG		0.682	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		C	149871669	G	C	149871669	3	2	169	1	0	0	0	0	1	0	0	0	1485	1368	48	3	59	3	BOLA1	1	149871669	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	2490418	149871669	99378952	9	9543											
SHC1	6464	genome.wustl.edu	37	1	154942743	154942743	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:154942743G>A	ENST00000368445.5	-	1	474	c.260C>T	c.(259-261)gCa>gTa	p.A87V	SHC1_ENST00000448116.2_Missense_Mutation_p.A87V|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	87					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.A87V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATCATCAGCTGCCCTTCCTGG	0.672																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)											1	Substitution - Missense(1)	ovary(1)	1											26	31	30					1																	154942743		2203	4298	6501	153209367	SO:0001583	missense	6464			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.260C>T	1.37:g.154942743G>A	ENSP00000357430:p.Ala87Val		153209367	B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296564	0.40594	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368443	T;T	0.55052	0.54;0.54	4.27	1.13	0.20643	.	0.533336	0.18979	N	0.125936	T	0.22475	0.0542	L	0.43152	1.355	0.58432	D	0.999999	B;B	0.33583	0.152;0.418	B;B	0.34180	0.05;0.177	T	0.03566	-1.1024	10	0.25751	T	0.34	.	7.2195	0.25979	0.1722:0.1413:0.6865:0.0	.	87;87	P29353-6;P29353	.;SHC1_HUMAN	V	87;87;23	ENSP00000357430:A87V;ENSP00000401303:A87V	ENSP00000357428:A23V	A	-	2	0	SHC1	153209367	0.817000	0.29147	0.713000	0.30519	0.955000	0.61496	2.071000	0.41500	0.552000	0.29026	0.555000	0.69702	GCA		0.672	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		A	154942743	G	A	154942743	3	1	169	1	0	0	0	0	1	0	0	0	14273	1319	46	2	1542	2	SHC1	1	154942743	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	5071074	154942743	94307878	10	9544											
LMNA	4000	genome.wustl.edu	37	1	156104723	156104723	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:156104723T>G	ENST00000368300.4	+	4	979	c.767T>G	c.(766-768)gTg>gGg	p.V256G	LMNA_ENST00000473598.2_Missense_Mutation_p.V157G|LMNA_ENST00000448611.2_Missense_Mutation_p.V144G|LMNA_ENST00000392353.3_Missense_Mutation_p.V175G|LMNA_ENST00000368297.1_Missense_Mutation_p.V175G|LMNA_ENST00000368301.2_Missense_Mutation_p.V256G|LMNA_ENST00000347559.2_Missense_Mutation_p.V256G|LMNA_ENST00000361308.4_Missense_Mutation_p.V256G|LMNA_ENST00000368299.3_Missense_Mutation_p.V256G|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	256	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)	p.V256G(1)		NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GAGGACCAGGTGGAGCAGTAT	0.582									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																							1	Substitution - Missense(1)	ovary(1)	1											109	90	96					1																	156104723		2203	4300	6503	154371347	SO:0001583	missense	4000	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.767T>G	1.37:g.156104723T>G	ENSP00000357283:p.Val256Gly		154371347	B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001873	0.93227	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000504687;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.58	5.58	0.84498	Filament (1);	0.000000	0.49916	D	0.000131	D	0.89952	0.6864	L	0.58669	1.825	0.80722	D	1	P;B;P;B;B;B;B	0.48764	0.775;0.009;0.915;0.082;0.022;0.033;0.017	P;B;P;B;B;B;B	0.57468	0.735;0.038;0.821;0.098;0.038;0.085;0.012	D	0.91509	0.5225	10	0.87932	D	0	.	13.6959	0.62580	0.0:0.0:0.0:1.0	.	144;256;157;175;256;256;256	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	G	256;256;256;256;256;256;256;144;175;173;157;175	ENSP00000357284:V256G;ENSP00000292304:V256G;ENSP00000355292:V256G;ENSP00000357283:V256G;ENSP00000357282:V256G;ENSP00000395597:V144G;ENSP00000357280:V175G;ENSP00000426535:V173G;ENSP00000421821:V157G;ENSP00000376164:V175G	ENSP00000292302:V256G	V	+	2	0	LMNA	154371347	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.957000	0.87870	2.111000	0.64477	0.460000	0.39030	GTG		0.582	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		G	156104723	T	G	156104723	3	3	169	1	0	0	0	0	1	0	0	0	8848	1696	59	5	781	5	LMNA	1	156104723	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	1161980	156104723	93145898	11	9545											
SPTA1	6708	genome.wustl.edu	37	1	158583525	158583525	+	Silent	SNP	A	A	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:158583525A>C	ENST00000368147.4	-	50	7155	c.6975T>G	c.(6973-6975)gcT>gcG	p.A2325A	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2325	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2325A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGGATCCACAGCATCCAGGA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	1											72	71	71					1																	158583525		1947	4138	6085	156850149	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6975T>G	1.37:g.158583525A>C			156850149	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158583525	A	C	158583525	2	2	169	1	0	0	0	0	0	0	0	1	15118	175	7	5		5	SPTA1	1	158583525	Silent	SNP	A	TCGA-23-1022-01A-02W-0488-09	2478802	158583525	90667096	12	9546											
MNDA	4332	genome.wustl.edu	37	1	158819015	158819015	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:158819015G>A	ENST00000368141.4	+	7	1473	c.1212G>A	c.(1210-1212)atG>atA	p.M404I		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	404					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M404I(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGGACCAATGAATGTTAATT	0.308																																																1	Substitution - Missense(1)	ovary(1)	1											92	85	87					1																	158819015		2203	4300	6503	157085639	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.1212G>A	1.37:g.158819015G>A	ENSP00000357123:p.Met404Ile		157085639		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.497|4.497	0.092164|0.092164	0.08632|0.08632	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000438394|ENST00000368141	.|T	.|0.04317	.|3.65	2.84|2.84	-2.48|-2.48	0.06423|0.06423	.|.	.|7.046570	.|0.00424	.|N	.|0.000061	T|T	0.01189|0.01189	0.0039|0.0039	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.47837|0.47837	-0.9086|-0.9086	5|10	.|0.37606	.|T	.|0.19	.|.	8.122|8.122	0.30976|0.30976	0.1482:0.2393:0.6125:0.0|0.1482:0.2393:0.6125:0.0	.|.	.|404	.|P41218	.|MNDA_HUMAN	K|I	101|404	.|ENSP00000357123:M404I	.|ENSP00000357123:M404I	E|M	+|+	1|3	0|0	MNDA|MNDA	157085639|157085639	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.120000|0.120000	0.20174|0.20174	-2.912000|-2.912000	0.00698|0.00698	-0.515000|-0.515000	0.06479|0.06479	0.462000|0.462000	0.41574|0.41574	GAA|ATG		0.308	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		A	158819015	G	A	158819015	3	1	169	1	0	0	0	0	1	0	0	0	9676	1290	45	2	1234	2	MNDA	1	158819015	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	235490	158819015	90431606	13	9547											
PYHIN1	149628	genome.wustl.edu	37	1	158913767	158913767	+	Splice_Site	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:158913767A>T	ENST00000368140.1	+	6	1435	c.1190A>T	c.(1189-1191)cAg>cTg	p.Q397L	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Splice_Site_p.Q397L|PYHIN1_ENST00000392252.3_Splice_Site_p.Q388L|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388L	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	397	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.Q397L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGTTTCATCCAGGTGAGAAAT	0.333																																																1	Substitution - Missense(1)	ovary(1)	1											51	52	52					1																	158913767		2203	4299	6502	157180391	SO:0001630	splice_region_variant	149628			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1191+1A>T	1.37:g.158913767A>T			157180391	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630317	0.46944	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	3.04	3.04	0.35103	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.23249	0.0562	L	0.61218	1.895	0.34847	D	0.741289	P;P;P;P	0.52061	0.95;0.913;0.95;0.917	P;P;P;B	0.53062	0.717;0.544;0.544;0.342	T	0.08452	-1.0721	9	0.87932	D	0	.	7.7222	0.28740	1.0:0.0:0.0:0.0	.	388;397;388;397	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	L	397;388;397;388	ENSP00000357122:Q397L;ENSP00000357120:Q388L;ENSP00000376083:Q397L;ENSP00000376082:Q388L	ENSP00000357120:Q388L	Q	+	2	0	PYHIN1	157180391	0.723000	0.28027	0.079000	0.20413	0.104000	0.19210	2.044000	0.41241	1.368000	0.46115	0.482000	0.46254	CAG		0.333	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	Missense_Mutation	T	158913767	A	T	158913767	5	4	169	1	0	0	0	0	0	0	1	0	12868	202	7	5	1208	5	PYHIN1	1	158913767	Splice_Site	SNP	A	TCGA-23-1022-01A-02W-0488-09	94752	158913767	90336854	14	9548											
ARHGAP30	257106	genome.wustl.edu	37	1	161018482	161018482	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:161018482G>C	ENST00000368013.3	-	12	2649	c.2329C>G	c.(2329-2331)Caa>Gaa	p.Q777E	ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.Q600E|USF1_ENST00000435396.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	777	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.Q777E(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCAGCAACTTGATCTTCCTGG	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											209	208	208					1																	161018482		2203	4300	6503	159285106	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2329C>G	1.37:g.161018482G>C	ENSP00000356992:p.Gln777Glu		159285106	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.321760	0.01320	.	.	ENSG00000186517	ENST00000368013;ENST00000368015	T;T	0.30714	3.05;1.52	4.63	2.72	0.32119	.	0.924044	0.08880	N	0.880174	T	0.12860	0.0312	L	0.60455	1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35001	-0.9806	10	0.51188	T	0.08	.	6.7894	0.23692	0.096:0.3442:0.5598:0.0	.	777	Q7Z6I6	RHG30_HUMAN	E	777;600	ENSP00000356992:Q777E;ENSP00000356994:Q600E	ENSP00000356992:Q777E	Q	-	1	0	ARHGAP30	159285106	0.001000	0.12720	0.000000	0.03702	0.717000	0.41224	0.485000	0.22324	0.388000	0.25054	-0.519000	0.04390	CAA		0.493	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		C	161018482	G	C	161018482	3	2	169	1	0	0	0	0	1	0	0	0	879	1299	45	3	980	3	ARHGAP30	1	161018482	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	2104715	161018482	88232139	15	9549											
SLC9A11	284525	genome.wustl.edu	37	1	173505055	173505055	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:173505055C>G	ENST00000367714.3	-	15	2111	c.1689G>C	c.(1687-1689)atG>atC	p.M563I	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	563					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.M563I(1)									TTCTAGTTCTCATATAAGTTG	0.254																																																1	Substitution - Missense(1)	ovary(1)	1											22	26	24					1																	173505055		2137	4230	6367	171771678	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1689G>C	1.37:g.173505055C>G	ENSP00000356687:p.Met563Ile		171771678	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	0.247	-1.009188	0.02112	.	.	ENSG00000162753	ENST00000367714	T	0.21361	2.01	5.81	-4.24	0.03777	.	0.546793	0.16489	N	0.212219	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44097	-0.9350	10	0.21540	T	0.41	-9.9766	6.4471	0.21882	0.0:0.3339:0.4045:0.2615	.	563	Q5TAH2	S9A11_HUMAN	I	563	ENSP00000356687:M563I	ENSP00000356687:M563I	M	-	3	0	SLC9A11	171771678	0.023000	0.18921	0.004000	0.12327	0.002000	0.02628	-0.187000	0.09656	-0.383000	0.07858	-0.331000	0.08364	ATG		0.254	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		G	173505055	C	G	173505055	3	3	169	1	0	0	0	0	1	0	0	0	14714	826	29	3	1741	3	SLC9A11	1	173505055	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	12486573	173505055	75745566	16	9550											
PPFIA4	8497	genome.wustl.edu	37	1	203037592	203037592	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:203037592T>A	ENST00000447715.2	+	32	3535	c.3094T>A	c.(3094-3096)Tgg>Agg	p.W1032R	PPFIA4_ENST00000367240.2_Missense_Mutation_p.W1033R|PPFIA4_ENST00000272198.6_Missense_Mutation_p.W548R|PPFIA4_ENST00000414050.2_Missense_Mutation_p.W761R|PPFIA4_ENST00000295706.4_Missense_Mutation_p.W539R|PPFIA4_ENST00000599966.1_Missense_Mutation_p.W539R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	1032	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.W1178R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTGTTAGTCTGGACCAACGA	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											75	73	73					1																	203037592		1969	4145	6114	201304215	SO:0001583	missense	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.3094T>A	1.37:g.203037592T>A	ENSP00000402576:p.Trp1032Arg		201304215	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	t	20.5	3.998346	0.74818	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55	3.62	3.62	0.41486	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.38663	U	0.001616	D	0.95878	0.8658	H	0.96175	3.78	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96721	0.9532	10	0.87932	D	0	-14.2893	12.6981	0.57016	0.0:0.0:0.0:1.0	.	761;1032;234;539;548	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	R	1033;1032;539;761;548	ENSP00000356209:W1033R;ENSP00000402576:W1032R;ENSP00000295706:W539R;ENSP00000400379:W761R;ENSP00000272198:W548R	ENSP00000272198:W548R	W	+	1	0	PPFIA4	201304215	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.760000	0.85248	1.644000	0.50603	0.449000	0.29647	TGG		0.552	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		A	203037592	T	A	203037592	3	1	169	1	0	0	0	0	1	0	0	0	12312	1580	55	5	1696	5	PPFIA4	1	203037592	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	29532537	203037592	46213029	17	9551											
KCNH1	3756	genome.wustl.edu	37	1	210857394	210857394	+	Silent	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:210857394C>T	ENST00000271751.4	-	11	2226	c.2199G>A	c.(2197-2199)ccG>ccA	p.P733P	KCNH1_ENST00000367007.4_Silent_p.P706P			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	733	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.P733P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAGGGTGGTCCGGGGGCAAGA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1											47	50	49					1																	210857394		2203	4300	6503	208924017	SO:0001819	synonymous_variant	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2199G>A	1.37:g.210857394C>T			208924017	B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																				0.582	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	210857394	C	T	210857394	2	4	169	1	0	0	0	0	0	0	0	1	8031	639	23	1		1	KCNH1	1	210857394	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	7819802	210857394	38393227	18	9552											
USH2A	7399	genome.wustl.edu	37	1	216246484	216246484	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:216246484C>T	ENST00000307340.3	-	28	6117	c.5731G>A	c.(5731-5733)Gga>Aga	p.G1911R	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.G1911R|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1911	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G1911R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTCTTTTCCCTGGTAAACC	0.463										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											86	76	79					1																	216246484		2203	4300	6503	214313107	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5731G>A	1.37:g.216246484C>T	ENSP00000305941:p.Gly1911Arg		214313107	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249447	0.95305	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.44881	0.91;0.91	6.03	6.03	0.97812	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000492	T	0.67031	0.2850	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65344	-0.6191	10	0.56958	D	0.05	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1911	O75445	USH2A_HUMAN	R	1911	ENSP00000305941:G1911R;ENSP00000355910:G1911R	ENSP00000305941:G1911R	G	-	1	0	USH2A	214313107	1.000000	0.71417	0.907000	0.35723	0.999000	0.98932	7.294000	0.78760	2.854000	0.98071	0.655000	0.94253	GGA		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216246484	C	T	216246484	3	4	169	1	0	0	0	0	1	0	0	0	17036	632	22	2	10057	2	USH2A	1	216246484	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	5389090	216246484	33004137	19	9553											
RYR2	6262	genome.wustl.edu	37	1	237838123	237838123	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr1:237838123C>G	ENST00000366574.2	+	60	9124	c.8807C>G	c.(8806-8808)gCc>gGc	p.A2936G	RYR2_ENST00000360064.6_Missense_Mutation_p.A2934G|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.A2920G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2936					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A2934G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGATGAAGCCCATCAGTAT	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											112	106	108					1																	237838123		1886	4113	5999	235904746	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8807C>G	1.37:g.237838123C>G	ENSP00000355533:p.Ala2936Gly		235904746	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756600	0.89843	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97924	-4.61;-4.58;-4.6	4.88	4.88	0.63580	.	0.185793	0.32190	U	0.006443	D	0.98077	0.9366	M	0.79123	2.44	0.80722	D	1	D	0.59357	0.985	P	0.53360	0.724	D	0.99153	1.0859	10	0.87932	D	0	.	18.3939	0.90492	0.0:1.0:0.0:0.0	.	2936	Q92736	RYR2_HUMAN	G	2936;2934;2920	ENSP00000355533:A2936G;ENSP00000353174:A2934G;ENSP00000443798:A2920G	ENSP00000353174:A2934G	A	+	2	0	RYR2	235904746	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.182000	0.77689	2.406000	0.81754	0.557000	0.71058	GCC		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237838123	C	G	237838123	3	3	169	1	0	0	0	0	1	0	0	0	13772	739	26	3	9045	3	RYR2	1	237838123	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	21591639	237838123	11412498	20	9554											
ADCY3	109	genome.wustl.edu	37	2	25051013	25051013	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:25051013G>T	ENST00000260600.5	-	13	3041	c.2190C>A	c.(2188-2190)taC>taA	p.Y730*	ADCY3_ENST00000405392.1_Intron|ADCY3_ENST00000450524.1_5'UTR|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	730					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.Y730*(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTCCCGTGTAGTACTGGAGAC	0.597											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	ovary(1)	2											61	53	56					2																	25051013		2203	4300	6503	24904517	SO:0001587	stop_gained	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2190C>A	2.37:g.25051013G>T	ENSP00000260600:p.Tyr730*	776	24904517	B3KT86|Q53T54|Q9UDB1	Nonsense_Mutation	SNP	ENST00000260600.5	37	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	46	12.500396	0.99673	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000455323;ENST00000450524	.	.	.	5.0	5.0	0.66597	.	0.650946	0.16370	N	0.217344	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1003	0.89504	0.0:0.0:1.0:0.0	.	.	.	.	X	730;705;69;73	.	ENSP00000260600:Y730X	Y	-	3	2	ADCY3	24904517	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.158000	0.58150	2.608000	0.88229	0.561000	0.74099	TAC		0.597	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			T	25051013	G	T	25051013	4	4	169	1	0	0	0	0	0	1	0	0	295	1024	36	3	1280	3	ADCY3	2	25051013	Nonsense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09		25051013	218148360	21	9555											
LTBP1	4052	genome.wustl.edu	37	2	33540336	33540336	+	Splice_Site	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:33540336G>A	ENST00000404816.2	+	24	4083	c.3730G>A	c.(3730-3732)Gat>Aat	p.D1244N	LTBP1_ENST00000354476.3_Splice_Site_p.D1245N|LTBP1_ENST00000407925.1_Splice_Site_p.D918N|LTBP1_ENST00000418533.2_Splice_Site_p.D918N|LTBP1_ENST00000272273.5_Splice_Site_p.D184N|LTBP1_ENST00000402934.1_Splice_Site_p.D865N|LTBP1_ENST00000404525.1_Splice_Site_p.D865N|LTBP1_ENST00000390003.4_Splice_Site_p.D919N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1244	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.D1245N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TACGTGTGAAGGTAAGATAAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											104	92	96					2																	33540336		2203	4300	6503	33393840	SO:0001630	splice_region_variant	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3730+1G>A	2.37:g.33540336G>A			33393840	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590875	0.86851	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;D;D;D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-5.37;-5.37;-5.37;-5.37;-5.37	4.98	4.98	0.66077	EGF-like calcium-binding, conserved site (1);	.	.	.	.	D	0.99363	0.9776	M	0.86864	2.845	0.80722	D	1	B;B;B;D;D;D;D	0.89917	0.024;0.066;0.084;1.0;1.0;1.0;1.0	B;B;B;D;D;D;D	0.91635	0.016;0.043;0.015;0.992;0.999;0.999;0.999	D	0.98956	1.0796	9	0.72032	D	0.01	.	18.2782	0.90089	0.0:0.0:1.0:0.0	.	184;1286;918;865;918;919;1245	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	N	1244;1245;919;918;865;865;918;184;122	ENSP00000386043:D1244N;ENSP00000346467:D1245N;ENSP00000374653:D919N;ENSP00000393057:D918N;ENSP00000384373:D865N;ENSP00000385359:D865N;ENSP00000384091:D918N;ENSP00000272273:D184N;ENSP00000395211:D122N	ENSP00000272273:D184N	D	+	1	0	LTBP1	33393840	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.159000	0.77483	2.295000	0.77249	0.655000	0.94253	GAT		0.443	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Missense_Mutation	A	33540336	G	A	33540336	5	1	169	1	0	0	0	0	0	0	1	0	9073	1014	35	2	3879	2	LTBP1	2	33540336	Splice_Site	SNP	G	TCGA-23-1022-01A-02W-0488-09	8489323	33540336	209659037	22	9556											
MTA3	57504	genome.wustl.edu	37	2	42936244	42936244	+	Intron	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:42936244G>T	ENST00000405094.1	+	14	1525				MTA3_ENST00000406911.1_Missense_Mutation_p.M510I|MTA3_ENST00000406652.1_Intron|MTA3_ENST00000407270.3_Missense_Mutation_p.M511I|MTA3_ENST00000405592.1_Intron|MTA3_ENST00000472767.1_3'UTR			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3							intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AATGTAAGATGCTTTTAAATT	0.393																																																1	Unknown(1)	ovary(1)	2											64	61	62					2																	42936244		1823	4077	5900	42789748	SO:0001627	intron_variant	57504			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1525+8G>T	2.37:g.42936244G>T			42789748	Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37		.	.	.	.	.	.	.	.	.	.	G	9.520	1.108032	0.20714	.	.	ENSG00000057935	ENST00000407270;ENST00000406911	T;T	0.39406	1.08;1.08	5.71	4.82	0.62117	.	.	.	.	.	T	0.12817	0.0311	N	0.00621	-1.32	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.24368	-1.0162	8	.	.	.	.	9.087	0.36587	0.0731:0.0:0.7796:0.1472	.	510;511	E7EQY4;Q9BTC8-2	.;.	I	511;510	ENSP00000385045:M511I;ENSP00000385241:M510I	.	M	+	3	0	MTA3	42789748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.013000	0.57138	2.687000	0.91594	0.655000	0.94253	ATG		0.393	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		T	42936244	G	T	42936244	1	4	169	0	1	0	0	0	0	0	0	0	9910	1319	46	3		3	MTA3	2	42936244	Intron	SNP	G	TCGA-23-1022-01A-02W-0488-09	9395908	42936244	200263129	23	9557											
HK2	3099	genome.wustl.edu	37	2	75081576	75081576	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:75081576G>T	ENST00000290573.2	+	2	820	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	HK2_ENST00000409174.1_Missense_Mutation_p.G46W	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	74	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.G74W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CACTCCAGATGGGACAGGTAC	0.542																																																1	Substitution - Missense(1)	ovary(1)	2											89	84	85					2																	75081576		2203	4300	6503	74935084	SO:0001583	missense	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.220G>T	2.37:g.75081576G>T	ENSP00000290573:p.Gly74Trp		74935084	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358367	0.82243	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99722	-6.53;-6.53	5.24	5.24	0.73138	Hexokinase, N-terminal (1);	0.056612	0.64402	D	0.000001	D	0.99862	0.9935	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96559	0.9414	10	0.87932	D	0	-35.2519	16.3815	0.83462	0.0:0.0:1.0:0.0	.	74	P52789	HXK2_HUMAN	W	74;74;46	ENSP00000290573:G74W;ENSP00000387140:G46W	ENSP00000290573:G74W	G	+	1	0	HK2	74935084	1.000000	0.71417	0.992000	0.48379	0.906000	0.53458	9.263000	0.95617	2.724000	0.93272	0.561000	0.74099	GGG		0.542	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		T	75081576	G	T	75081576	3	4	169	1	0	0	0	0	1	0	0	0	7191	1348	47	3	226	3	HK2	2	75081576	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	32145332	75081576	168117797	24	9558											
NPAS2	4862	genome.wustl.edu	37	2	101564740	101564740	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:101564740A>G	ENST00000335681.5	+	6	692	c.407A>G	c.(406-408)cAa>cGa	p.Q136R	NPAS2_ENST00000542504.1_Missense_Mutation_p.Q201R|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	136	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q136R(2)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCCAGAACAAGAACATTCA	0.358																																																2	Substitution - Missense(2)	ovary(2)	2											113	110	111					2																	101564740		2203	4300	6503	100931172	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.407A>G	2.37:g.101564740A>G	ENSP00000338283:p.Gln136Arg		100931172	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.26|13.26	2.184786|2.184786	0.38609|0.38609	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000427413|ENST00000335681;ENST00000542504	.|T;T	.|0.16324	.|2.35;2.35	4.97|4.97	4.97|4.97	0.65823|0.65823	.|PAS (3);PAS fold (1);	.|0.060448	.|0.64402	.|D	.|0.000002	T|T	0.08179|0.08179	0.0204|0.0204	N|N	0.03238|0.03238	-0.38|-0.38	0.45490|0.45490	D|D	0.99845|0.99845	.|B;B	.|0.23442	.|0.069;0.085	.|B;B	.|0.24155	.|0.051;0.03	T|T	0.29427|0.29427	-1.0012|-1.0012	5|10	.|0.13108	.|T	.|0.6	.|.	14.8137|14.8137	0.70013|0.70013	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|201;136	.|F5H027;Q99743	.|.;NPAS2_HUMAN	E|R	202|136;201	.|ENSP00000338283:Q136R;ENSP00000438428:Q201R	.|ENSP00000338283:Q136R	K|Q	+|+	1|2	0|0	NPAS2|NPAS2	100931172|100931172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.293000|6.293000	0.72731|0.72731	2.077000|2.077000	0.62373|0.62373	0.528000|0.528000	0.53228|0.53228	AAG|CAA		0.358	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			G	101564740	A	G	101564740	3	3	169	1	0	0	0	0	1	0	0	0	10563	130	5	4	425	4	NPAS2	2	101564740	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	26483164	101564740	141634633	25	9559											
LIMS1	3987	genome.wustl.edu	37	2	109276124	109276125	+	Nonsense_Mutation	DNP	TG	TG	CT			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	TG	TG	TG	CT	TG	TG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:109276124_109276125TG>CT	ENST00000393310.1	+	2	227_228	c.60_61TG>CT	c.(58-63)gcTGag>gcCTag	p.E21*	LIMS1_ENST00000410093.1_Nonsense_Mutation_p.E25*|LIMS1_ENST00000338045.3_Nonsense_Mutation_p.E21*|LIMS1_ENST00000393314.2_Nonsense_Mutation_p.E83*|LIMS1_ENST00000332345.6_Nonsense_Mutation_p.E21*|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000542845.1_Nonsense_Mutation_p.E83*|LIMS1_ENST00000409441.1_Nonsense_Mutation_p.E58*|LIMS1_ENST00000544547.1_Nonsense_Mutation_p.E33*	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	21	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TTGCGCCCGCTGAGAAGATCGT	0.574																																																0			2																																								108642557	SO:0001587	stop_gained	3987				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	Exception_encountered	2.37:g.109276124_109276125delinsCT	ENSP00000376987:p.Glu21*		108642556	B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Nonsense_Mutation	DNP	ENST00000393310.1	37	CCDS2078.1																																																																																				0.574	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		CT	109276125	TG	CT	109276124	4	2	169	1	0	0	0	0	0	1	0	0	8803	1567	55	4	62	4	LIMS1	2	109276124	Nonsense_Mutation	DNP	TG	TCGA-23-1022-01A-02W-0488-09	7711384	109276124	133923249	26	9560											
PSD4	23550	genome.wustl.edu	37	2	113943815	113943815	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:113943815C>G	ENST00000245796.6	+	5	1806	c.1611C>G	c.(1609-1611)caC>caG	p.H537Q	PSD4_ENST00000441564.3_Missense_Mutation_p.H509Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	537					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.H537Q(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGACATTCACCTGACTTCTG	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											42	46	44					2																	113943815		2200	4300	6500	113660286	SO:0001583	missense	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1611C>G	2.37:g.113943815C>G	ENSP00000245796:p.His537Gln		113660286	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249073	0.22880	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10668	2.86;2.85	4.88	3.08	0.35506	.	2.408010	0.01155	N	0.006519	T	0.07052	0.0179	N	0.19112	0.55	0.09310	N	0.999997	B;B;P	0.34462	0.054;0.018;0.454	B;B;B	0.24006	0.024;0.014;0.05	T	0.34378	-0.9831	10	0.12103	T	0.63	.	7.5425	0.27746	0.0:0.8059:0.0:0.1941	.	195;509;537	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	Q	537;509	ENSP00000245796:H537Q;ENSP00000413997:H509Q	ENSP00000245796:H537Q	H	+	3	2	PSD4	113660286	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.256000	0.18351	0.764000	0.33197	0.655000	0.94253	CAC		0.488	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		G	113943815	C	G	113943815	3	3	169	1	0	0	0	0	1	0	0	0	12652	506	18	3	1625	3	PSD4	2	113943815	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	4667691	113943815	129255558	27	9561											
UGGT1	56886	genome.wustl.edu	37	2	128886622	128886622	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:128886622A>G	ENST00000259253.6	+	13	1293	c.1246A>G	c.(1246-1248)Aat>Gat	p.N416D	UGGT1_ENST00000375990.3_Missense_Mutation_p.N392D	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	416					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.N416D(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTGTTGAGGAATGAAGCTCG	0.383																																																1	Substitution - Missense(1)	ovary(1)	2											122	125	124					2																	128886622		2203	4300	6503	128603092	SO:0001583	missense	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1246A>G	2.37:g.128886622A>G	ENSP00000259253:p.Asn416Asp		128603092	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057271	0.36277	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.36520	1.25;1.25	5.7	5.7	0.88788	.	0.045125	0.85682	D	0.000000	T	0.37571	0.1008	L	0.59436	1.845	0.58432	D	0.999993	B;B	0.32101	0.356;0.048	B;B	0.34536	0.185;0.034	T	0.13415	-1.0510	10	0.20519	T	0.43	.	15.9666	0.79979	1.0:0.0:0.0:0.0	.	392;416	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	D	392;416	ENSP00000365158:N392D;ENSP00000259253:N416D	ENSP00000259253:N416D	N	+	1	0	UGGT1	128603092	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.827000	0.92041	2.174000	0.68829	0.482000	0.46254	AAT		0.383	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		G	128886622	A	G	128886622	3	3	169	1	0	0	0	0	1	0	0	0	16941	246	9	4	1296	4	UGGT1	2	128886622	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	14942807	128886622	114312751	28	9562											
TTN	7273	genome.wustl.edu	37	2	179465864	179465864	+	Silent	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:179465864G>T	ENST00000591111.1	-	238	51068	c.50844C>A	c.(50842-50844)ggC>ggA	p.G16948G	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.G9649G|TTN_ENST00000460472.2_Silent_p.G9524G|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.G16021G|TTN_ENST00000342175.6_Silent_p.G9716G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.G18589G|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16948	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G16021G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGATGAGGCCAATCTTGA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	2											49	49	49					2																	179465864		1858	4106	5964	179174109	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50844C>A	2.37:g.179465864G>T			179174109	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179465864	G	T	179465864	2	4	169	1	0	0	0	0	0	0	0	1	16735	1190	42	3		3	TTN	2	179465864	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	50579242	179465864	63733509	29	9563											
ASNSD1	54529	genome.wustl.edu	37	2	190531586	190531586	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:190531586C>A	ENST00000260952.4	+	4	1141	c.728C>A	c.(727-729)cCt>cAt	p.P243H	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	243					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.P243H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CCTGTTGTTCCTTTAAATATG	0.373																																																1	Substitution - Missense(1)	ovary(1)	2																																								190239831	SO:0001583	missense	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.728C>A	2.37:g.190531586C>A	ENSP00000260952:p.Pro243His		190239831	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138954	0.77775	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.31769	1.48;1.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.76002	2.32	0.80722	D	1	D	0.61697	0.99	P	0.53401	0.725	T	0.51371	-0.8714	10	0.72032	D	0.01	2.4643	20.8794	0.99867	0.0:1.0:0.0:0.0	.	243	Q9NWL6	ASND1_HUMAN	H	243	ENSP00000260952:P243H;ENSP00000406790:P243H	ENSP00000260952:P243H	P	+	2	0	ASNSD1	190239831	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.421000	0.80204	2.941000	0.99782	0.655000	0.94253	CCT		0.373	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		A	190531586	C	A	190531586	3	1	169	1	0	0	0	0	1	0	0	0	1049	681	24	3	730	3	ASNSD1	2	190531586	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	11065722	190531586	52667787	30	9564											
HECW2	57520	genome.wustl.edu	37	2	197297969	197297969	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:197297969C>T	ENST00000260983.3	-	2	361	c.179G>A	c.(178-180)aGc>aAc	p.S60N		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	60					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S60N(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCAGTTAAGCTGGAGCGGCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											82	74	77					2																	197297969		2203	4300	6503	197006214	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.179G>A	2.37:g.197297969C>T	ENSP00000260983:p.Ser60Asn		197006214	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260156	0.59321	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.35605	1.3;1.3;1.3	5.27	5.27	0.74061	.	0.116141	0.64402	D	0.000011	T	0.39306	0.1073	M	0.67953	2.075	0.44702	D	0.997693	P	0.40638	0.725	B	0.38428	0.273	T	0.40905	-0.9538	10	0.66056	D	0.02	.	14.6536	0.68817	0.0:0.855:0.145:0.0	.	60	Q9P2P5	HECW2_HUMAN	N	60	ENSP00000260983:S60N;ENSP00000409918:S60N;ENSP00000395770:S60N	ENSP00000260983:S60N	S	-	2	0	HECW2	197006214	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.776000	0.62354	2.736000	0.93811	0.561000	0.74099	AGC		0.572	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197297969	C	T	197297969	3	4	169	1	0	0	0	0	1	0	0	0	7043	797	28	2	4651	2	HECW2	2	197297969	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	6766383	197297969	45901404	31	9565											
PTPRN	5798	genome.wustl.edu	37	2	220162763	220162763	+	Silent	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:220162763C>G	ENST00000295718.2	-	13	1971	c.1731G>C	c.(1729-1731)gtG>gtC	p.V577V	PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Silent_p.V548V|PTPRN_ENST00000423636.2_Silent_p.V487V|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	577					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V577V(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAGTGAGCAGCACTGAGCGCA	0.637																																																1	Substitution - coding silent(1)	ovary(1)	2											68	65	66					2																	220162763		2203	4300	6503	219871007	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1731G>C	2.37:g.220162763C>G			219871007	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	CCDS2440.1																																																																																				0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			G	220162763	C	G	220162763	2	3	169	1	0	0	0	0	0	0	0	1	12810	697	25	3		3	PTPRN	2	220162763	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	22864794	220162763	23036610	32	9566											
GPR55	9290	genome.wustl.edu	37	2	231774990	231774990	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:231774990C>G	ENST00000392040.1	-	2	880	c.688G>C	c.(688-690)Gcc>Ccc	p.A230P	GPR55_ENST00000392039.2_Missense_Mutation_p.A230P|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	230					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.A230P(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GCCAGGCTGGCTGCGATGCTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											92	93	93					2																	231774990		2203	4300	6503	231483234	SO:0001583	missense	9290			AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.688G>C	2.37:g.231774990C>G	ENSP00000375894:p.Ala230Pro		231483234	Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	C	9.423	1.083497	0.20309	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.40225	1.04;1.04;1.04	5.53	0.44	0.16572	GPCR, rhodopsin-like superfamily (1);	0.588445	0.18744	N	0.132363	T	0.43166	0.1235	M	0.78916	2.43	0.09310	N	1	B	0.32071	0.355	B	0.38296	0.27	T	0.44651	-0.9314	10	0.72032	D	0.01	-17.9653	5.3476	0.16018	0.5568:0.2809:0.0:0.1623	.	230	Q9Y2T6	GPR55_HUMAN	P	230	ENSP00000375894:A230P;ENSP00000375893:A230P;ENSP00000412768:A230P	ENSP00000375893:A230P	A	-	1	0	GPR55	231483234	0.302000	0.24454	0.000000	0.03702	0.097000	0.18754	0.875000	0.28079	-0.005000	0.14395	0.561000	0.74099	GCC		0.592	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		G	231774990	C	G	231774990	3	3	169	1	0	0	0	0	1	0	0	0	6699	797	28	3	275	3	GPR55	2	231774990	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	11612227	231774990	11424383	33	9567											
SCLY	51540	genome.wustl.edu	37	2	238991893	238991893	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr2:238991893A>T	ENST00000555827.1	+	7	846	c.782A>T	c.(781-783)tAt>tTt	p.Y261F	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.Y179F|SCLY_ENST00000254663.6_Missense_Mutation_p.Y269F|SCLY_ENST00000422984.2_Missense_Mutation_p.Y167F|SCLY_ENST00000409736.2_Missense_Mutation_p.Y261F			Q96I15	SCLY_HUMAN	selenocysteine lyase	261					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.Y261F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TTCCAGTTTTATGGTCCCAGG	0.443																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)											1	Substitution - Missense(1)	ovary(1)	2											149	136	140					2																	238991893		2203	4300	6503	238656632	SO:0001583	missense	51540			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.782A>T	2.37:g.238991893A>T	ENSP00000450613:p.Tyr261Phe		238656632	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	17.45|17.45|17.45	3.392835|3.392835|3.392835	0.62066|0.62066|0.62066	.|.|.	.|.|.	ENSG00000132330|ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000433750|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965	.|.|T;T;D;D;T;D	.|.|0.87966	.|.|2.01;2.01;-2.32;-2.32;2.01;-2.32	5.79|5.79|5.79	4.64|4.64|4.64	0.57946|0.57946|0.57946	.|.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.93900|0.93900|0.93900	0.8048|0.8048|0.8048	M|M|M	0.90595|0.90595|0.90595	3.13|3.13|3.13	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D	.|.|0.89917	.|.|1.0;0.998;0.978	.|.|D;D;P	.|.|0.85130	.|.|0.997;0.97;0.84	D|D|D	0.93911|0.93911|0.93911	0.7197|0.7197|0.7197	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-24.5411|-24.5411|-24.5411	10.9022|10.9022|10.9022	0.47058|0.47058|0.47058	0.9255:0.0:0.0745:0.0|0.9255:0.0:0.0745:0.0|0.9255:0.0:0.0745:0.0	.|.|.	.|.|167;261;261	.|.|E7ESG3;Q96I15;Q96I15-2	.|.|.;SCLY_HUMAN;.	F|L|F	104|3|269;261;179;261;167;91	.|.|ENSP00000254663:Y269F;ENSP00000450613:Y261F;ENSP00000362429:Y179F;ENSP00000387162:Y261F;ENSP00000416865:Y167F;ENSP00000414053:Y91F	.|.|ENSP00000254663:Y261F	L|M|Y	+|+|+	3|1|2	2|0|0	SCLY|SCLY|SCLY	238656632|238656632|238656632	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.968000|0.968000|0.968000	0.41197|0.41197|0.41197	0.258000|0.258000|0.258000	0.26162|0.26162|0.26162	8.427000|8.427000|8.427000	0.90275|0.90275|0.90275	1.022000|1.022000|1.022000	0.39626|0.39626|0.39626	-0.256000|-0.256000|-0.256000	0.11100|0.11100|0.11100	TTA|ATG|TAT		0.443	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		T	238991893	A	T	238991893	3	4	169	1	0	0	0	0	1	0	0	0	13910	449	16	5	808	5	SCLY	2	238991893	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	7216903	238991893	4207480	34	9568											
CELSR3	1951	genome.wustl.edu	37	3	48689423	48689423	+	Missense_Mutation	SNP	C	C	G	rs369174347		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr3:48689423C>G	ENST00000164024.4	-	12	6090	c.5810G>C	c.(5809-5811)cGa>cCa	p.R1937P	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1937P	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1937	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1937P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCATTCACTCGGTGGCTGGG	0.657																																																1	Substitution - Missense(1)	ovary(1)	3											29	32	31					3																	48689423		2203	4300	6503	48664427	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5810G>C	3.37:g.48689423C>G	ENSP00000164024:p.Arg1937Pro		48664427	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305045	0.23736	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.79653	-1.29;-1.29	5.72	2.57	0.30868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.69540	0.3122	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.59059	-0.7525	9	0.46703	T	0.11	.	8.1423	0.31091	0.0:0.5774:0.249:0.1736	.	1937;2007	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	P	1937	ENSP00000164024:R1937P;ENSP00000445694:R1937P	ENSP00000164024:R1937P	R	-	2	0	CELSR3	48664427	0.400000	0.25295	0.997000	0.53966	0.776000	0.43924	0.758000	0.26447	0.790000	0.33803	-0.797000	0.03246	CGA		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		G	48689423	C	G	48689423	3	3	169	1	0	0	0	0	1	0	0	0	3223	884	31	3	4224	3	CELSR3	3	48689423	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09		48689423	149333007	35	9569											
GPR128	84873	genome.wustl.edu	37	3	100413790	100413790	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr3:100413790C>T	ENST00000273352.3	+	16	2607	c.2339C>T	c.(2338-2340)cCg>cTg	p.P780L	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P485L	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	780					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P780L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAAACCTCTCCGAGTACTGAG	0.443																																					Pancreas(87;185 1975 7223 18722)											1	Substitution - Missense(1)	ovary(1)	3											124	119	120					3																	100413790		2203	4300	6503	101896480	SO:0001583	missense	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2339C>T	3.37:g.100413790C>T	ENSP00000273352:p.Pro780Leu		101896480	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	c	2.432	-0.330558	0.05314	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.38240	1.15;1.51	5.2	-10.4	0.00318	.	16.475400	0.00166	N	0.000000	T	0.11196	0.0273	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25813	-1.0121	10	0.07325	T	0.83	.	1.1229	0.01728	0.3686:0.2922:0.1868:0.1524	.	485;780	E9PHI0;Q96K78	.;GP128_HUMAN	L	780;485	ENSP00000273352:P780L;ENSP00000419788:P485L	ENSP00000273352:P780L	P	+	2	0	GPR128	101896480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.539000	0.00219	-2.785000	0.00359	-4.252000	0.00008	CCG		0.443	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			T	100413790	C	T	100413790	3	4	169	1	0	0	0	0	1	0	0	0	6641	652	23	1	2401	1	GPR128	3	100413790	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	51724367	100413790	97608640	36	9570											
ZBTB20	26137	genome.wustl.edu	37	3	114057992	114057992	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr3:114057992G>T	ENST00000474710.1	-	5	2264	c.2086C>A	c.(2086-2088)Ccc>Acc	p.P696T	ZBTB20_ENST00000464560.1_Missense_Mutation_p.P623T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.P623T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.P623T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.P623T|ZBTB20_ENST00000462705.1_Missense_Mutation_p.P623T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.P623T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	696						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P623T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCACCTGGGGGTGTGCCTGCA	0.632																																					NSCLC(69;748 1344 9802 11203 30933)											1	Substitution - Missense(1)	ovary(1)	3											49	49	49					3																	114057992		2203	4300	6503	115540682	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2086C>A	3.37:g.114057992G>T	ENSP00000419153:p.Pro696Thr		115540682	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743913	0.15642	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.76;2.75;2.75	5.65	0.219	0.15274	.	0.871567	0.10103	N	0.715680	T	0.08802	0.0218	N	0.14661	0.345	0.31893	N	0.616969	B	0.06786	0.001	B	0.06405	0.002	T	0.20505	-1.0273	10	0.27785	T	0.31	.	20.4617	0.99160	0.0:0.6352:0.3648:0.0	.	696	Q9HC78	ZBT20_HUMAN	T	623;623;623;623;696;623;623	ENSP00000420324:P623T;ENSP00000377375:P623T;ENSP00000418092:P623T;ENSP00000419902:P623T;ENSP00000419153:P696T;ENSP00000349803:P623T;ENSP00000417307:P623T	ENSP00000349803:P623T	P	-	1	0	ZBTB20	115540682	0.194000	0.23325	0.993000	0.49108	0.990000	0.78478	0.573000	0.23699	0.121000	0.18284	0.655000	0.94253	CCC		0.632	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		T	114057992	G	T	114057992	3	4	169	1	0	0	0	0	1	0	0	0	17529	1261	44	3	143	3	ZBTB20	3	114057992	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	13644202	114057992	83964438	37	9571											
ZXDC	79364	genome.wustl.edu	37	3	126191065	126191065	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr3:126191065A>G	ENST00000389709.3	-	2	1044	c.991T>C	c.(991-993)Tcc>Ccc	p.S331P	ZXDC_ENST00000336332.5_Missense_Mutation_p.S331P	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	331					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S331P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCAGGAAAGGAGCAGGAAAAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											77	82	80					3																	126191065		2194	4296	6490	127673755	SO:0001583	missense	79364			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.991T>C	3.37:g.126191065A>G	ENSP00000374359:p.Ser331Pro		127673755	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673902	0.47781	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.11712	2.75;2.78	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.137618	0.49916	D	0.000124	T	0.17408	0.0418	N	0.19112	0.55	0.50039	D	0.999848	D;D	0.76494	0.999;0.999	D;D	0.69142	0.962;0.916	T	0.03034	-1.1080	10	0.72032	D	0.01	-23.1139	11.8496	0.52403	1.0:0.0:0.0:0.0	.	331;331	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	P	331	ENSP00000374359:S331P;ENSP00000337694:S331P	ENSP00000337694:S331P	S	-	1	0	ZXDC	127673755	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.441000	0.59981	1.756000	0.51951	0.402000	0.26972	TCC		0.493	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		G	126191065	A	G	126191065	3	3	169	1	0	0	0	0	1	0	0	0	18252	304	11	4	1627	4	ZXDC	3	126191065	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	12133073	126191065	71831365	38	9572											
COPB2	9276	genome.wustl.edu	37	3	139077104	139077104	+	Missense_Mutation	SNP	C	C	T	rs560518160		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr3:139077104C>T	ENST00000333188.5	-	21	2744	c.2563G>A	c.(2563-2565)Ggg>Agg	p.G855R	COPB2_ENST00000507777.1_Missense_Mutation_p.G826R	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	855					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.G855R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAGGTTTCCCATCAAGTTCC	0.433													C|||	1	0.000199681	0	0	5008	,	,		18641	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	3											110	96	100					3																	139077104		2203	4300	6503	140559794	SO:0001583	missense	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2563G>A	3.37:g.139077104C>T	ENSP00000329419:p.Gly855Arg		140559794	B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.84|12.84	2.058654|2.058654	0.36277|0.36277	.|.	.|.	ENSG00000184432|ENSG00000184432	ENST00000333188;ENST00000507777|ENST00000503326	T;T|.	0.61980|.	0.06;0.17|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.717399|.	0.13055|.	N|.	0.417385|.	T|.	0.41190|.	0.1148|.	N|N	0.24115|0.24115	0.695|0.695	0.30766|0.30766	N|N	0.743519|0.743519	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|.	0.39121|.	-0.9629|.	10|.	0.20519|.	T|.	0.43|.	-21.3713|-21.3713	13.8059|13.8059	0.63230|0.63230	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	855|.	P35606|.	COPB2_HUMAN|.	R|X	855;826|68	ENSP00000329419:G855R;ENSP00000422295:G826R|.	ENSP00000329419:G855R|.	G|W	-|-	1|2	0|0	COPB2|COPB2	140559794|140559794	0.797000|0.797000	0.28877|0.28877	0.936000|0.936000	0.37596|0.37596	0.765000|0.765000	0.43378|0.43378	3.232000|3.232000	0.51302|0.51302	2.634000|2.634000	0.89283|0.89283	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.433	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		T	139077104	C	T	139077104	3	4	169	1	0	0	0	0	1	0	0	0	3729	594	21	2	165	2	COPB2	3	139077104	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	12886039	139077104	58945326	39	9573											
KLHL6	89857	genome.wustl.edu	37	3	183210290	183210290	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr3:183210290T>C	ENST00000341319.3	-	6	1591	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	519					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.Y519C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACCAACGACATAGATGCGGTC	0.532																																																1	Substitution - Missense(1)	ovary(1)	3											134	111	119					3																	183210290		2203	4300	6503	184692984	SO:0001583	missense	89857			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1556A>G	3.37:g.183210290T>C	ENSP00000341342:p.Tyr519Cys		184692984	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770515	0.69992	.	.	ENSG00000172578	ENST00000341319	T	0.73897	-0.79	5.12	5.12	0.69794	Kelch-type beta propeller (1);	0.055265	0.85682	D	0.000000	D	0.89350	0.6690	M	0.93550	3.43	0.50632	D	0.999888	D	0.89917	1.0	D	0.81914	0.995	D	0.92215	0.5779	10	0.87932	D	0	.	15.21	0.73214	0.0:0.0:0.0:1.0	.	519	Q8WZ60	KLHL6_HUMAN	C	519	ENSP00000341342:Y519C	ENSP00000341342:Y519C	Y	-	2	0	KLHL6	184692984	1.000000	0.71417	0.966000	0.40874	0.863000	0.49368	6.129000	0.71657	2.051000	0.60960	0.482000	0.46254	TAT		0.532	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		C	183210290	T	C	183210290	3	2	169	1	0	0	0	0	1	0	0	0	8393	1406	49	4	317	4	KLHL6	3	183210290	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	44133186	183210290	14812140	40	9574											
EIF4G1	1981	genome.wustl.edu	37	3	184042725	184042725	+	Silent	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr3:184042725G>T	ENST00000346169.2	+	18	2950	c.2679G>T	c.(2677-2679)cgG>cgT	p.R893R	EIF4G1_ENST00000435046.2_Silent_p.R697R|EIF4G1_ENST00000319274.6_Silent_p.R893R|EIF4G1_ENST00000382330.3_Silent_p.R900R|EIF4G1_ENST00000414031.1_Silent_p.R853R|EIF4G1_ENST00000342981.4_Silent_p.R894R|EIF4G1_ENST00000427845.1_Silent_p.R807R|EIF4G1_ENST00000424196.1_Silent_p.R900R|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.R806R|EIF4G1_ENST00000350481.5_Silent_p.R729R|EIF4G1_ENST00000411531.1_Silent_p.R854R|EIF4G1_ENST00000434061.2_Silent_p.R698R|EIF4G1_ENST00000352767.3_Silent_p.R900R|EIF4G1_ENST00000441154.1_Silent_p.R730R|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	893	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R893R(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAGCCCGGCGGCGCTCTTTAG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	3											67	77	73					3																	184042725		2203	4300	6503	185525419	SO:0001819	synonymous_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2679G>T	3.37:g.184042725G>T			185525419	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.478	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		T	184042725	G	T	184042725	2	4	169	1	0	0	0	0	0	0	0	1	5036	1190	42	3		3	EIF4G1	3	184042725	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	832435	184042725	13979705	41	9575											
LPHN3	23284	genome.wustl.edu	37	4	62598858	62598858	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr4:62598858T>A	ENST00000514591.1	+	7	1110	c.781T>A	c.(781-783)Tct>Act	p.S261T	LPHN3_ENST00000508946.1_Missense_Mutation_p.S261T|LPHN3_ENST00000511324.1_Missense_Mutation_p.S329T|LPHN3_ENST00000506720.1_Missense_Mutation_p.S329T|LPHN3_ENST00000508693.1_Missense_Mutation_p.S329T|LPHN3_ENST00000545650.1_Missense_Mutation_p.S261T|LPHN3_ENST00000507164.1_Missense_Mutation_p.S329T|LPHN3_ENST00000504896.1_Missense_Mutation_p.S261T|LPHN3_ENST00000509896.1_Missense_Mutation_p.S329T|LPHN3_ENST00000506700.1_Missense_Mutation_p.S261T|LPHN3_ENST00000506746.1_Missense_Mutation_p.S329T|LPHN3_ENST00000514157.1_Missense_Mutation_p.S261T|LPHN3_ENST00000507625.1_Missense_Mutation_p.S329T|LPHN3_ENST00000514996.1_Missense_Mutation_p.S261T|LPHN3_ENST00000512091.2_Missense_Mutation_p.S261T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	261	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.S261T(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGGAGGCAAATCTGACATAGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	4											75	68	70					4																	62598858		1925	4129	6054	62281453	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.781T>A	4.37:g.62598858T>A	ENSP00000422533:p.Ser261Thr		62281453	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	2.590	-0.295448	0.05532	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	N	0.04148	-0.265	0.49051	D	0.99974	D;D;P	0.63046	0.992;0.992;0.954	D;D;D	0.76071	0.987;0.987;0.943	T	0.79892	-0.1611	10	0.02654	T	1	.	9.7144	0.40265	0.1545:0.0:0.0:0.8455	.	261;329;261	E9PE04;E7EN28;Q9HAR2-2	.;.;.	T	261;261;329;329;261;261;261;261;261;329;329;329;261;261;261;329;329;261	ENSP00000423388:S261T;ENSP00000422533:S261T;ENSP00000423787:S329T;ENSP00000425033:S329T;ENSP00000424120:S261T;ENSP00000439831:S261T;ENSP00000421476:S329T;ENSP00000424030:S329T;ENSP00000421372:S329T;ENSP00000425201:S261T;ENSP00000423434:S261T;ENSP00000421627:S261T;ENSP00000420931:S329T;ENSP00000425884:S329T;ENSP00000424258:S261T	ENSP00000280009:S261T	S	+	1	0	LPHN3	62281453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	1.989000	0.58080	0.455000	0.32223	TCT		0.413	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			A	62598858	T	A	62598858	3	1	169	1	0	0	0	0	1	0	0	0	8917	1435	50	5	799	5	LPHN3	4	62598858	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09		62598858	128555418	42	9576											
PPBP	5473	genome.wustl.edu	37	4	74853678	74853678	+	Missense_Mutation	SNP	C	C	A	rs373114326		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr4:74853678C>A	ENST00000296028.3	-	1	236	c.143G>T	c.(142-144)gGc>gTc	p.G48V		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	48					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)	p.G48V(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TCTACCTTTGCCTTTCGCCAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	4											138	129	132					4																	74853678		2203	4300	6503	75072542	SO:0001583	missense	5473			M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"Endogenous ligands"	9240	protein-coding gene	gene with protein product	"platelet basic protein", "beta-thromboglobulin", "connective tissue-activating peptide III", "neutrophil-activating peptide-2"	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.143G>T	4.37:g.74853678C>A	ENSP00000296028:p.Gly48Val		75072542	B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	C	4.844	0.156914	0.09236	.	.	ENSG00000163736	ENST00000296028	T	0.50001	0.76	2.23	-4.34	0.03666	Chemokine interleukin-8-like domain (1);	.	.	.	.	T	0.21718	0.0523	N	0.14661	0.345	0.09310	N	0.999998	B	0.19817	0.039	B	0.15052	0.012	T	0.12016	-1.0564	9	0.37606	T	0.19	.	1.078	0.01637	0.1549:0.3541:0.2366:0.2544	.	48	P02775	CXCL7_HUMAN	V	48	ENSP00000296028:G48V	ENSP00000296028:G48V	G	-	2	0	PPBP	75072542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.801000	0.04550	-1.088000	0.03077	-0.494000	0.04653	GGC		0.537	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		A	74853678	C	A	74853678	3	1	169	1	0	0	0	0	1	0	0	0	12303	739	26	3	255	3	PPBP	4	74853678	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	12254820	74853678	116300598	43	9577											
BMP3	651	genome.wustl.edu	37	4	81967025	81967025	+	Silent	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr4:81967025A>G	ENST00000282701.2	+	2	770	c.450A>G	c.(448-450)ggA>ggG	p.G150G		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	150					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.G150G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CAGTGTCTGGAGGATGCTCCC	0.448																																																1	Substitution - coding silent(1)	ovary(1)	4											124	108	113					4																	81967025		2203	4300	6503	82186049	SO:0001819	synonymous_variant	651			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.450A>G	4.37:g.81967025A>G			82186049	Q4VAS5	Silent	SNP	ENST00000282701.2	37	CCDS3588.1																																																																																				0.448	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			G	81967025	A	G	81967025	2	3	169	1	0	0	0	0	0	0	0	1	1461	291	11	4		4	BMP3	4	81967025	Silent	SNP	A	TCGA-23-1022-01A-02W-0488-09	7113347	81967025	109187251	44	9578											
HELQ	113510	genome.wustl.edu	37	4	84337944	84337944	+	Silent	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr4:84337944G>C	ENST00000295488.3	-	17	3300	c.3138C>G	c.(3136-3138)ctC>ctG	p.L1046L	HELQ_ENST00000510985.1_Silent_p.L979L	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1046					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L1046L(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TTGTCCTTACGAGCACTTCAG	0.368								Other identified genes with known or suspected DNA repair function																																								1	Substitution - coding silent(1)	ovary(1)	4											191	182	185					4																	84337944		2203	4300	6503	84556968	SO:0001819	synonymous_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.3138C>G	4.37:g.84337944G>C			84556968	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	CCDS3603.1																																																																																				0.368	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		C	84337944	G	C	84337944	2	2	169	1	0	0	0	0	0	0	0	1	7047	1045	37	3		3	HELQ	4	84337944	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	2370919	84337944	106816332	45	9579											
PTPN13	5783	genome.wustl.edu	37	4	87655895	87655895	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr4:87655895C>T	ENST00000411767.2	+	14	2081	c.2018C>T	c.(2017-2019)aCt>aTt	p.T673I	PTPN13_ENST00000427191.2_Missense_Mutation_p.T673I|PTPN13_ENST00000316707.6_Missense_Mutation_p.T673I|PTPN13_ENST00000436978.1_Missense_Mutation_p.T673I|PTPN13_ENST00000511467.1_Missense_Mutation_p.T673I			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	673	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.T673I(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCAGACATACTCTGACGTGT	0.388																																																1	Substitution - Missense(1)	ovary(1)	4											99	93	95					4																	87655895		1888	4121	6009	87874919	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2018C>T	4.37:g.87655895C>T	ENSP00000407249:p.Thr673Ile		87874919	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318284	0.23994	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.85	3.84	0.44239	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.378221	0.22298	N	0.061916	T	0.29620	0.0739	N	0.24115	0.695	0.09310	N	0.999998	P;B;P;P	0.52316	0.952;0.338;0.724;0.677	P;B;P;P	0.51582	0.674;0.377;0.511;0.48	T	0.07443	-1.0772	10	0.66056	D	0.02	.	10.419	0.44340	0.205:0.5504:0.2446:0.0	.	673;673;673;673	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	I	673;673;673;673;673;641	ENSP00000408368:T673I;ENSP00000394794:T673I;ENSP00000322675:T673I;ENSP00000407249:T673I;ENSP00000426626:T673I	ENSP00000322675:T673I	T	+	2	0	PTPN13	87874919	0.000000	0.05858	0.038000	0.18304	0.198000	0.23893	0.971000	0.29396	0.548000	0.28955	0.655000	0.94253	ACT		0.388	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			T	87655895	C	T	87655895	3	4	169	1	0	0	0	0	1	0	0	0	12785	565	20	2	2068	2	PTPN13	4	87655895	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	3317951	87655895	103498381	46	9580											
HPGDS	27306	genome.wustl.edu	37	4	95239089	95239089	+	Frame_Shift_Del	DEL	A	A	-			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr4:95239089delA	ENST00000295256.5	-	3	251	c.161delT	c.(160-162)ttgfs	p.L54fs	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	54	GST N-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)	p.L54fs*12(1)		breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	ATCAACTTCCAAAATGGGGAT	0.323																																					Colon(86;1802 1843 17863 46794)											1	Deletion - Frameshift(1)	ovary(1)	4											84	85	85					4																	95239089		2203	4299	6502	95458112	SO:0001589	frameshift_variant	27306			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"Glutathione S-transferases / Soluble"	17890	protein-coding gene	gene with protein product	"glutathione S-transferase sigma"	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.161delT	4.37:g.95239089delA	ENSP00000295256:p.Leu54fs		95458112	Q6FHT9	Frame_Shift_Del	DEL	ENST00000295256.5	37	CCDS3640.1																																																																																				0.323	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		-	95239089	A	-	95239089	7	5	169	1	0	1	0	1	0	0	0	0	7335	131	5	0	454	0	HPGDS	4	95239089	Frame_Shift_Del	DEL	A	TCGA-23-1022-01A-02W-0488-09	7583194	95239089	95915187	47	9581											
FAT1	2195	genome.wustl.edu	37	4	187540678	187540678	+	Silent	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr4:187540678C>T	ENST00000441802.2	-	10	7271	c.7062G>A	c.(7060-7062)cgG>cgA	p.R2354R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2354	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2354R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGTGTGCTGCCGGGACTGCT	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											1	Substitution - coding silent(1)	ovary(1)	4											128	132	131					4																	187540678		2130	4241	6371	187777672	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7062G>A	4.37:g.187540678C>T			187777672		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187540678	C	T	187540678	2	4	169	1	0	0	0	0	0	0	0	1	5689	726	26	2		2	FAT1	4	187540678	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	92301589	187540678	3613598	48	9582											
ENC1	8507	genome.wustl.edu	37	5	73931272	73931272	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:73931272C>G	ENST00000302351.4	-	2	2169	c.1039G>C	c.(1039-1041)Ggg>Cgg	p.G347R	ENC1_ENST00000510316.1_Missense_Mutation_p.G274R|ENC1_ENST00000537006.1_Missense_Mutation_p.G347R	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	347					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.G347R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GACCCCCGCCCCCCAGTAATG	0.527																																																1	Substitution - Missense(1)	ovary(1)	5											91	100	97					5																	73931272		2203	4300	6503	73967028	SO:0001583	missense	8507			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1039G>C	5.37:g.73931272C>G	ENSP00000306356:p.Gly347Arg		73967028	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061727	0.76187	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	D;D;D	0.99494	-6.01;-6.01;-6.01	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.97575	1.0107	10	0.87932	D	0	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	347	O14682	ENC1_HUMAN	R	347;274;347	ENSP00000306356:G347R;ENSP00000423804:G274R;ENSP00000446289:G347R	ENSP00000306356:G347R	G	-	1	0	ENC1	73967028	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.818000	0.86416	2.793000	0.96121	0.561000	0.74099	GGG		0.527	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		G	73931272	C	G	73931272	3	3	169	1	0	0	0	0	1	0	0	0	5113	623	22	3	734	3	ENC1	5	73931272	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09		73931272	106983988	49	9583											
APC	324	genome.wustl.edu	37	5	112174650	112174650	+	Missense_Mutation	SNP	G	G	A	rs28933379		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:112174650G>A	ENST00000457016.1	+	16	3739	c.3359G>A	c.(3358-3360)gGa>gAa	p.G1120E	APC_ENST00000508376.2_Missense_Mutation_p.G1120E|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.G1120E			P25054	APC_HUMAN	adenomatous polyposis coli	1120	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		G -> E (in gastric cancer; dbSNP:rs28933379).		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.G1120E(2)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTAATCATGGAATTAATCAA	0.403		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	3	Substitution - Missense(2)|Unknown(1)	ovary(1)|stomach(1)|skin(1)	5	GRCh37	CI972534	APC	I	rs28933379						85	77	80					5																	112174650		2202	4300	6502	112202549	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3359G>A	5.37:g.112174650G>A	ENSP00000413133:p.Gly1120Glu		112202549	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620341	0.28801	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93763	-2.49;-3.28;-2.49;-2.49;-2.67	5.56	3.71	0.42584	.	0.488596	0.20777	N	0.085862	D	0.87621	0.6223	N	0.24115	0.695	0.30362	N	0.783718	P;P	0.34780	0.468;0.468	B;B	0.30855	0.121;0.121	T	0.83023	-0.0166	10	0.49607	T	0.09	-9.3002	15.3711	0.74564	0.0:0.4124:0.5876:0.0	rs28933379	1122;1120	Q4LE70;P25054	.;APC_HUMAN	E	1120;1102;1120;1120;1120	ENSP00000413133:G1120E;ENSP00000423224:G1102E;ENSP00000257430:G1120E;ENSP00000427089:G1120E;ENSP00000423828:G1120E	ENSP00000257430:G1120E	G	+	2	0	APC	112202549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.085000	0.57657	0.657000	0.30906	0.655000	0.94253	GGA		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		A	112174650	G	A	112174650	3	1	169	1	0	0	0	0	1	0	0	0	763	1174	41	2	3417	2	APC	5	112174650	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	38243378	112174650	68740610	50	9584											
APC	324	genome.wustl.edu	37	5	112177305	112177305	+	Nonsense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:112177305C>G	ENST00000457016.1	+	16	6394	c.6014C>G	c.(6013-6015)tCa>tGa	p.S2005*	APC_ENST00000508376.2_Nonsense_Mutation_p.S2005*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S2005*			P25054	APC_HUMAN	adenomatous polyposis coli	2005	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S2005*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCTCAAGCatcaggctatgct	0.408		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Substitution - Nonsense(1)|Unknown(1)	ovary(1)|skin(1)	5											81	80	80					5																	112177305		2200	4299	6499	112205204	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6014C>G	5.37:g.112177305C>G	ENSP00000413133:p.Ser2005*		112205204	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	44	10.687366	0.99450	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	5.86	5.86	0.93980	.	0.293920	0.37577	N	0.002030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0943	20.1986	0.98248	0.0:1.0:0.0:0.0	.	.	.	.	X	2005	.	.	S	+	2	0	APC	112205204	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	3.601000	0.54059	2.781000	0.95711	0.650000	0.86243	TCA		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112177305	C	G	112177305	4	3	169	1	0	0	0	0	0	1	0	0	763	838	29	3	6072	3	APC	5	112177305	Nonsense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	2655	112177305	68737955	51	9585											
ADAMTS19	171019	genome.wustl.edu	37	5	129037270	129037270	+	Silent	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:129037270G>A	ENST00000274487.4	+	20	3271	c.3126G>A	c.(3124-3126)gcG>gcA	p.A1042A	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1042	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1042A(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTGGGAGGCGGGAGTGTGGT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	5											68	63	65					5																	129037270		2203	4300	6503	129065169	SO:0001819	synonymous_variant	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3126G>A	5.37:g.129037270G>A			129065169		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.567	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		A	129037270	G	A	129037270	2	1	169	1	0	0	0	0	0	0	0	1	264	1103	39	1		1	ADAMTS19	5	129037270	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	16859965	129037270	51877990	52	9586											
PCDHB7	56129	genome.wustl.edu	37	5	140554153	140554153	+	Silent	SNP	G	G	A	rs567529552		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:140554153G>A	ENST00000231137.3	+	1	1911	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	579	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A579A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCCGGGCGGCCGAGCCGG	0.706													G|||	1	0.000199681	0	0	5008	,	,		16255	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	5											28	38	35					5																	140554153		2116	4170	6286	140534337	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1737G>A	5.37:g.140554153G>A			140534337	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	5.924	0.354469	0.11239	.	.	ENSG00000113212	ENST00000543636	.	.	.	4.3	-0.293	0.12835	.	.	.	.	.	T	0.56688	0.2002	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56214	-0.8016	5	0.87932	D	0	.	4.0236	0.09677	0.0763:0.2456:0.4274:0.2508	.	.	.	.	Q	362	.	ENSP00000440828:R362Q	R	+	2	0	PCDHB7	140534337	0.000000	0.05858	0.998000	0.56505	0.662000	0.39071	-0.573000	0.05874	0.016000	0.14998	0.449000	0.29647	CGG		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140554153	G	A	140554153	2	1	169	1	0	0	0	0	0	0	0	1	11547	1103	39	1		1	PCDHB7	5	140554153	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	11516883	140554153	40361107	53	9587											
PCDHB15	56121	genome.wustl.edu	37	5	140626712	140626712	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:140626712G>C	ENST00000231173.3	+	1	1566	c.1566G>C	c.(1564-1566)gaG>gaC	p.E522D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E522D(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACTACGAGGCCCTGCAGG	0.697																																																1	Substitution - Missense(1)	ovary(1)	5											73	84	80					5																	140626712		2203	4300	6503	140606896	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1566G>C	5.37:g.140626712G>C	ENSP00000231173:p.Glu522Asp		140606896	Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560544	0.45590	.	.	ENSG00000113248	ENST00000231173	T	0.72394	-0.65	4.62	2.38	0.29361	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.87321	0.6148	H	0.95982	3.75	0.21325	N	0.999725	D	0.89917	1.0	D	0.97110	1.0	T	0.75706	-0.3224	9	0.87932	D	0	.	8.8014	0.34912	0.2931:0.0:0.7069:0.0	.	522	Q9Y5E8	PCDBF_HUMAN	D	522	ENSP00000231173:E522D	ENSP00000231173:E522D	E	+	3	2	PCDHB15	140606896	0.298000	0.24417	1.000000	0.80357	0.724000	0.41520	0.818000	0.27295	1.099000	0.41499	0.485000	0.47835	GAG		0.697	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		C	140626712	G	C	140626712	3	2	169	1	0	0	0	0	1	0	0	0	11540	991	35	3	1568	3	PCDHB15	5	140626712	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	72559	140626712	40288548	54	9588											
PCDH1	5097	genome.wustl.edu	37	5	141243376	141243376	+	Silent	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:141243376C>G	ENST00000394536.3	-	3	2659	c.2520G>C	c.(2518-2520)ggG>ggC	p.G840G	PCDH1_ENST00000287008.3_Silent_p.G840G|PCDH1_ENST00000456271.1_Silent_p.G828G|PCDH1_ENST00000536585.1_Silent_p.G818G|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	840	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G840G(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ATTCTGGATCCCCAGCAATGT	0.587																																					Ovarian(132;1609 1739 4190 14731 45037)											1	Substitution - coding silent(1)	ovary(1)	5											108	117	114					5																	141243376		2203	4300	6503	141223560	SO:0001819	synonymous_variant	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2520G>C	5.37:g.141243376C>G			141223560	Q8IUP2	Silent	SNP	ENST00000394536.3	37	CCDS43375.1																																																																																				0.587	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		G	141243376	C	G	141243376	2	3	169	1	0	0	0	0	0	0	0	1	11506	610	22	3		3	PCDH1	5	141243376	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	616664	141243376	39671884	55	9589											
ADRB2	154	genome.wustl.edu	37	5	148207445	148207445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	-	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:148207445delG	ENST00000305988.4	+	1	1290	c.1051delG	c.(1051-1053)gggfs	p.G351fs		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	351					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.N352fs>62(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	GAAGGCCTATGGGAATGGCTA	0.517																																																1	Deletion - Frameshift(1)	ovary(1)	5											55	57	56					5																	148207445		2203	4300	6503	148187638	SO:0001589	frameshift_variant	154			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.1051delG	5.37:g.148207445delG	ENSP00000305372:p.Gly351fs		148187638	B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Frame_Shift_Del	DEL	ENST00000305988.4	37	CCDS4292.1																																																																																				0.517	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		-	148207445	G	-	148207445	7	5	169	1	0	1	0	1	0	0	0	0	341	1348	47	0	1053	0	ADRB2	5	148207445	Frame_Shift_Del	DEL	G	TCGA-23-1022-01A-02W-0488-09	6964069	148207445	32707815	56	9590											
SH3TC2	79628	genome.wustl.edu	37	5	148392217	148392217	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:148392217T>A	ENST00000515425.1	-	13	3235	c.3134A>T	c.(3133-3135)gAg>gTg	p.E1045V	SH3TC2_ENST00000538184.1_Missense_Mutation_p.E592V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E1038V	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1045					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.E1045V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCAGGCCTCAGCAGCCTT	0.597																																																1	Substitution - Missense(1)	ovary(1)	5											49	49	49					5																	148392217		2203	4300	6503	148372410	SO:0001583	missense	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3134A>T	5.37:g.148392217T>A	ENSP00000423660:p.Glu1045Val		148372410	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.603850	0.66445	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049	T;T;T	0.77489	-1.04;-1.1;-1.04	5.67	3.28	0.37604	Tetratricopeptide-like helical (1);	0.066004	0.64402	D	0.000018	T	0.75191	0.3816	L	0.56769	1.78	0.80722	D	1	P;P;P	0.48640	0.913;0.913;0.913	B;P;B	0.47470	0.424;0.548;0.424	T	0.74134	-0.3763	10	0.54805	T	0.06	-4.4403	7.2814	0.26314	0.1303:0.0701:0.0:0.7996	.	1038;1045;1045	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	V	592;1045;1038	ENSP00000441427:E592V;ENSP00000423660:E1045V;ENSP00000421860:E1038V	ENSP00000425627:E1045V	E	-	2	0	SH3TC2	148372410	1.000000	0.71417	0.966000	0.40874	0.793000	0.44817	3.947000	0.56652	0.956000	0.37904	-0.333000	0.08304	GAG		0.597	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		A	148392217	T	A	148392217	3	1	169	1	0	0	0	0	1	0	0	0	14265	1551	54	5	752	5	SH3TC2	5	148392217	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	184772	148392217	32523043	57	9591											
ITK	3702	genome.wustl.edu	37	5	156649982	156649982	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:156649982A>C	ENST00000422843.3	+	6	757	c.605A>C	c.(604-606)gAc>gCc	p.D202A	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	202	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.D202A(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TGCCTGCTGGACAGTTCTGAG	0.498			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - Missense(1)	ovary(1)	5											139	130	133					5																	156649982		2203	4300	6503	156582560	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.605A>C	5.37:g.156649982A>C	ENSP00000398655:p.Asp202Ala		156582560	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234596	0.79800	.	.	ENSG00000113263	ENST00000422843	T	0.19669	2.13	5.81	5.81	0.92471	Src homology-3 domain (4);	0.097116	0.64402	D	0.000001	T	0.33089	0.0851	M	0.69823	2.125	0.52099	D	0.999947	P	0.38745	0.645	P	0.44477	0.451	T	0.08827	-1.0703	10	0.66056	D	0.02	.	13.7005	0.62606	1.0:0.0:0.0:0.0	.	202	Q08881	ITK_HUMAN	A	202	ENSP00000398655:D202A	ENSP00000398655:D202A	D	+	2	0	ITK	156582560	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.215000	0.72206	2.217000	0.71921	0.482000	0.46254	GAC		0.498	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			C	156649982	A	C	156649982	3	2	169	1	0	0	0	0	1	0	0	0	7909	275	10	5	627	5	ITK	5	156649982	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	8257765	156649982	24265278	58	9592											
GABRG2	2566	genome.wustl.edu	37	5	161524811	161524811	+	Silent	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr5:161524811C>A	ENST00000361925.4	+	4	715	c.495C>A	c.(493-495)acC>acA	p.T165T	GABRG2_ENST00000356592.3_Silent_p.T165T|GABRG2_ENST00000414552.2_Silent_p.T165T|GABRG2_ENST00000393933.4_Silent_p.T70T			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	165					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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.T165T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGATCACCACCCCCAACAGGA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	5											98	98	98					5																	161524811		2203	4300	6503	161457389	SO:0001819	synonymous_variant	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.495C>A	5.37:g.161524811C>A			161457389	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	CCDS4358.1																																																																																				0.418	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			A	161524811	C	A	161524811	2	1	169	1	0	0	0	0	0	0	0	1	6172	610	22	3		3	GABRG2	5	161524811	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	4874829	161524811	19390449	59	9593											
TNF	7124	genome.wustl.edu	37	6	31545063	31545063	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:31545063C>T	ENST00000449264.2	+	4	626	c.451C>T	c.(451-453)Ctc>Ttc	p.L151F		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	151					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)	p.L151F(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	CACCCATGTGCTCCTCACCCA	0.617									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							1	Substitution - Missense(1)	ovary(1)	6											144	100	116					6																	31545063		1511	2709	4220	31653042	SO:0001583	missense	7124	Familial Cancer Database	incl.: Familial Head and Neck Cancer	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.451C>T	6.37:g.31545063C>T	ENSP00000398698:p.Leu151Phe		31653042	O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	C	7.669	0.686489	0.14973	.	.	ENSG00000232810	ENST00000449264	D	0.94537	-3.45	5.4	-0.0979	0.13631	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.428589	0.26411	N	0.024521	T	0.74786	0.3762	L	0.31420	0.93	0.31269	N	0.691996	B	0.13145	0.007	B	0.17098	0.017	T	0.57406	-0.7817	10	0.17832	T	0.49	.	1.6819	0.02833	0.2791:0.4168:0.1363:0.1677	.	151	P01375	TNFA_HUMAN	F	151	ENSP00000398698:L151F	ENSP00000398698:L151F	L	+	1	0	TNF	31653042	0.014000	0.17966	0.381000	0.26106	0.598000	0.36846	0.247000	0.18179	-0.030000	0.13804	0.561000	0.74099	CTC		0.617	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			T	31545063	C	T	31545063	3	4	169	1	0	0	0	0	1	0	0	0	16271	797	28	2	465	2	TNF	6	31545063	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09		31545063	139570004	60	9594											
COL11A2	1302	genome.wustl.edu	37	6	33154447	33154447	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:33154447G>T	ENST00000374708.4	-	5	1013	c.755C>A	c.(754-756)cCa>cAa	p.P252Q	COL11A2_ENST00000361917.1_Missense_Mutation_p.P252Q|COL11A2_ENST00000341947.2_Missense_Mutation_p.P252Q|COL11A2_ENST00000374712.1_Missense_Mutation_p.P252Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.P252Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.P252Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.P252Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.P252Q|COL11A2_ENST00000395194.1_Missense_Mutation_p.P252Q	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	252	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P252Q(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AAGTCTTGATGGTTGCTGCTG	0.572																																					Melanoma(1;90 116 3946 5341 17093)											1	Substitution - Missense(1)	ovary(1)	6											238	224	228					6																	33154447		2203	4300	6503	33262425	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.755C>A	6.37:g.33154447G>T	ENSP00000363840:p.Pro252Gln		33262425	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142308	0.37825	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	D;D;D;D;D;D;D;D;D;T	0.90069	-2.36;-2.26;-2.31;-2.32;-2.31;-2.33;-2.44;-2.32;-2.61;1.8	4.21	3.33	0.38152	.	0.326711	0.18020	N	0.154275	T	0.79930	0.4531	N	0.14661	0.345	0.09310	N	0.999996	D;B;D;D	0.89917	1.0;0.054;0.986;0.995	D;B;P;D	0.85130	0.997;0.056;0.649;0.941	T	0.69007	-0.5259	10	0.16420	T	0.52	.	7.2786	0.26297	0.1197:0.0:0.8803:0.0	.	252;252;252;252	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	Q	252	ENSP00000363840:P252Q;ENSP00000339915:P252Q;ENSP00000350079:P252Q;ENSP00000363846:P252Q;ENSP00000363845:P252Q;ENSP00000378623:P252Q;ENSP00000363844:P252Q;ENSP00000355123:P252Q;ENSP00000405520:P252Q;ENSP00000378620:P252Q	ENSP00000339915:P252Q	P	-	2	0	COL11A2	33262425	0.828000	0.29307	0.715000	0.30552	0.564000	0.35744	2.075000	0.41538	2.342000	0.79632	0.442000	0.29010	CCA		0.572	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			T	33154447	G	T	33154447	3	4	169	1	0	0	0	0	1	0	0	0	3668	1348	47	3	4778	3	COL11A2	6	33154447	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	1609384	33154447	137960620	61	9595											
RXRB	6257	genome.wustl.edu	37	6	33163374	33163374	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:33163374G>A	ENST00000374680.3	-	7	1440	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	RXRB_ENST00000544186.1_Missense_Mutation_p.S220L|RXRB_ENST00000374685.4_Missense_Mutation_p.S410L	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	410	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S410L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TACTCCTGCTGAATGGGCTGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	6											94	89	91					6																	33163374		1510	2709	4219	33271352	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1229C>T	6.37:g.33163374G>A	ENSP00000363812:p.Ser410Leu		33271352	P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346933	0.41599	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186	D;D;D	0.96716	-4.1;-4.1;-4.1	5.35	3.52	0.40303	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.305250	0.33753	N	0.004596	D	0.95316	0.8480	L	0.41632	1.29	0.80722	D	1	B;D;D;D	0.76494	0.001;0.999;0.999;0.999	B;D;D;D	0.70935	0.008;0.971;0.96;0.971	D	0.94153	0.7407	10	0.37606	T	0.19	.	13.3383	0.60530	0.0:0.4688:0.5312:0.0	.	220;410;450;410	E9PK95;Q5STP9;Q59G65;P28702	.;.;.;RXRB_HUMAN	L	410;410;220	ENSP00000363817:S410L;ENSP00000363812:S410L;ENSP00000439222:S220L	ENSP00000363812:S410L	S	-	2	0	RXRB	33271352	1.000000	0.71417	0.448000	0.26945	0.538000	0.34931	6.671000	0.74472	0.788000	0.33755	0.549000	0.68633	TCA		0.562	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		A	33163374	G	A	33163374	3	1	169	1	0	0	0	0	1	0	0	0	13767	1294	45	2	388	2	RXRB	6	33163374	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	8927	33163374	137951693	62	9596											
ABCC10	89845	genome.wustl.edu	37	6	43400778	43400778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:43400778C>T	ENST00000372530.4	+	3	1275	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	ABCC10_ENST00000244533.3_Nonsense_Mutation_p.Q311*|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	354	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q311K(1)|p.Q311*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGTAACACTTCAGGCACGGGG	0.592																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	ovary(1)|lung(1)	6											58	57	57					6																	43400778		2203	4300	6503	43508756	SO:0001587	stop_gained	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1060C>T	6.37:g.43400778C>T	ENSP00000361608:p.Gln354*		43508756	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Nonsense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701534	0.68501	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	.	.	.	5.2	5.2	0.72013	.	0.710044	0.14003	N	0.347967	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-17.3198	9.1942	0.37217	0.1551:0.5925:0.2524:0.0	.	.	.	.	X	354;311	.	ENSP00000244533:Q311X	Q	+	1	0	ABCC10	43508756	0.989000	0.36119	1.000000	0.80357	0.135000	0.20990	1.709000	0.37909	2.445000	0.82738	0.561000	0.74099	CAG		0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43400778	C	T	43400778	4	4	169	1	0	0	0	0	0	1	0	0	50	827	29	2	933	2	ABCC10	6	43400778	Nonsense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	10237404	43400778	127714289	63	9597											
DEFB114	245928	genome.wustl.edu	37	6	49928151	49928151	+	Missense_Mutation	SNP	T	T	A	rs562939075		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:49928151T>A	ENST00000322066.3	-	2	63	c.64A>T	c.(64-66)Acc>Tcc	p.T22S		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	22					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)	p.T22S(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTCACCAAGGTACATGTGGCT	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											88	79	82					6																	49928151		2203	4299	6502	50036110	SO:0001583	missense	245928			DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"Defensins, beta"	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.64A>T	6.37:g.49928151T>A	ENSP00000312702:p.Thr22Ser		50036110	Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	T	1.845	-0.466437	0.04476	.	.	ENSG00000177684	ENST00000322066	.	.	.	3.4	-0.777	0.10981	.	0.942717	0.08681	N	0.909428	T	0.05960	0.0155	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39187	-0.9626	7	.	.	.	-1.4887	3.9034	0.09172	0.5446:0.0:0.1571:0.2983	.	22	Q30KQ6	DB114_HUMAN	S	22	.	.	T	-	1	0	DEFB114	50036110	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-1.309000	0.02728	-0.136000	0.11475	0.528000	0.53228	ACC		0.348	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		A	49928151	T	A	49928151	3	1	169	1	0	0	0	0	1	0	0	0	4403	1638	57	5	148	5	DEFB114	6	49928151	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	6527373	49928151	121186916	64	9598											
COL9A1	1297	genome.wustl.edu	37	6	71011764	71011764	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:71011764A>T	ENST00000357250.6	-	2	186	c.28T>A	c.(28-30)Ttc>Atc	p.F10I	COL9A1_ENST00000370496.3_Missense_Mutation_p.F10I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	10					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.F10I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACAAAGAAGAAAACTGGAATT	0.423																																																1	Substitution - Missense(1)	ovary(1)	6											36	37	37					6																	71011764		2203	4300	6503	71068485	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.28T>A	6.37:g.71011764A>T	ENSP00000349790:p.Phe10Ile		71068485	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.002053	0.54254	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	D;D	0.91068	-2.41;-2.78	5.85	4.69	0.59074	.	0.078571	0.56097	D	0.000035	T	0.76863	0.4047	L	0.32530	0.975	0.80722	D	1	B	0.20368	0.044	B	0.13407	0.009	T	0.74740	-0.3563	10	0.52906	T	0.07	.	9.9087	0.41392	0.9212:0.0:0.0788:0.0	.	10	P20849	CO9A1_HUMAN	I	10	ENSP00000349790:F10I;ENSP00000359527:F10I	ENSP00000349790:F10I	F	-	1	0	COL9A1	71068485	1.000000	0.71417	0.993000	0.49108	0.891000	0.51852	2.396000	0.44468	1.038000	0.40049	0.533000	0.62120	TTC		0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			T	71011764	A	T	71011764	3	4	169	1	0	0	0	0	1	0	0	0	3707	14	1	5	2961	5	COL9A1	6	71011764	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	21083613	71011764	100103303	65	9599											
RRAGD	58528	genome.wustl.edu	37	6	90089026	90089026	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:90089026T>C	ENST00000369415.4	-	4	952	c.676A>G	c.(676-678)Ata>Gta	p.I226V	RRAGD_ENST00000359203.3_Missense_Mutation_p.I75V|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D									p.I226V(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		GCTTCAAATATTGAATGATCA	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											79	81	80					6																	90089026		2203	4300	6503	90145745	SO:0001583	missense	58528			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.676A>G	6.37:g.90089026T>C	ENSP00000358423:p.Ile226Val		90145745		Missense_Mutation	SNP	ENST00000369415.4	37	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908968	0.72868	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	D;D	0.82255	-1.59;-1.59	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.81118	0.4756	L	0.52266	1.64	0.80722	D	1	P	0.48764	0.915	P	0.53518	0.728	T	0.79092	-0.1945	10	0.25751	T	0.34	-19.8113	16.4075	0.83691	0.0:0.0:0.0:1.0	.	226	Q9NQL2	RRAGD_HUMAN	V	226;75	ENSP00000358423:I226V;ENSP00000352131:I75V	ENSP00000352131:I75V	I	-	1	0	RRAGD	90145745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	ATA		0.353	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		C	90089026	T	C	90089026	3	2	169	1	0	0	0	0	1	0	0	0	13678	1493	52	4	542	4	RRAGD	6	90089026	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	19077262	90089026	81026041	66	9600											
MANEA	79694	genome.wustl.edu	37	6	96034488	96034488	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:96034488A>T	ENST00000358812.4	+	2	307	c.173A>T	c.(172-174)aAt>aTt	p.N58I	MANEA_ENST00000369293.1_Missense_Mutation_p.N58I	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	58					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.N58I(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TTGGGGAAAAATTTTGATTTC	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											79	81	80					6																	96034488		2203	4300	6503	96141209	SO:0001583	missense	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.173A>T	6.37:g.96034488A>T	ENSP00000351669:p.Asn58Ile		96141209	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	A	2.606	-0.291779	0.05568	.	.	ENSG00000172469	ENST00000358812;ENST00000369293;ENST00000542500	.	.	.	5.58	-11.2	0.00127	.	1.615210	0.02944	N	0.140904	T	0.01940	0.0061	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.21621	-1.0240	9	0.36615	T	0.2	-0.022	0.2847	0.00249	0.3541:0.1536:0.1919:0.3004	.	58;58	Q5SRI9;Q8WWX4	MANEA_HUMAN;.	I	58	.	ENSP00000351669:N58I	N	+	2	0	MANEA	96141209	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.253000	0.08794	-2.763000	0.00369	-1.219000	0.01604	AAT		0.353	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		T	96034488	A	T	96034488	3	4	169	1	0	0	0	0	1	0	0	0	9221	101	4	5	175	5	MANEA	6	96034488	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	5945462	96034488	75080579	67	9601											
PDSS2	57107	genome.wustl.edu	37	6	107566787	107566787	+	Missense_Mutation	SNP	C	C	G	rs35555197	byFrequency	TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:107566787C>G	ENST00000369037.4	-	4	944	c.667G>C	c.(667-669)Gta>Cta	p.V223L	PDSS2_ENST00000453874.2_Missense_Mutation_p.V223L	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	223					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.V223L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		ACTCCTTGTACCAAGTCCATA	0.294																																																1	Substitution - Missense(1)	ovary(1)	6											44	42	42					6																	107566787		2202	4295	6497	107673480	SO:0001583	missense	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"chromosome 6 open reading frame 210"	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.667G>C	6.37:g.107566787C>G	ENSP00000358033:p.Val223Leu		107673480	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370499	0.61624	.	.	ENSG00000164494	ENST00000369037;ENST00000453874	T;T	0.64438	-0.1;-0.1	5.6	5.6	0.85130	Terpenoid synthase (2);	0.056183	0.64402	D	0.000001	T	0.74928	0.3781	M	0.89785	3.06	0.58432	D	0.999998	P;P;P	0.49862	0.86;0.929;0.929	P;P;P	0.52309	0.695;0.627;0.627	T	0.79165	-0.1916	10	0.52906	T	0.07	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	223;223;223	B4DKU5;B2RE48;Q86YH6	.;.;DLP1_HUMAN	L	223	ENSP00000358033:V223L;ENSP00000399691:V223L	ENSP00000358033:V223L	V	-	1	0	PDSS2	107673480	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.940000	0.70187	2.631000	0.89168	0.585000	0.79938	GTA		0.294	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		G	107566787	C	G	107566787	3	3	169	1	0	0	0	0	1	0	0	0	11694	507	18	3	552	3	PDSS2	6	107566787	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	11532299	107566787	63548280	68	9602											
ENPP1	5167	genome.wustl.edu	37	6	132171147	132171147	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:132171147C>T	ENST00000360971.2	+	3	351	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	111	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|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)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.R59C(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTGCAAAGGTCGCTGTTTCGA	0.383																																					Colon(104;336 1535 5856 11019 33782)											1	Substitution - Missense(1)	ovary(1)	6											128	122	124					6																	132171147		2203	4300	6503	132212840	SO:0001583	missense	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.331C>T	6.37:g.132171147C>T	ENSP00000354238:p.Arg111Cys		132212840	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333520	0.81801	.	.	ENSG00000197594	ENST00000360971	T	0.63255	-0.03	5.16	5.16	0.70880	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.000000	0.64402	D	0.000002	T	0.81635	0.4864	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85706	0.1316	10	0.87932	D	0	-16.9205	17.7963	0.88572	0.0:1.0:0.0:0.0	.	111	P22413	ENPP1_HUMAN	C	111	ENSP00000354238:R111C	ENSP00000354238:R111C	R	+	1	0	ENPP1	132212840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.031000	0.64134	2.563000	0.86464	0.650000	0.86243	CGC		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			T	132171147	C	T	132171147	3	4	169	1	0	0	0	0	1	0	0	0	5129	884	31	1	341	1	ENPP1	6	132171147	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	24604360	132171147	38943920	69	9603											
PEX3	8504	genome.wustl.edu	37	6	143792700	143792700	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:143792700C>G	ENST00000367591.4	+	7	593	c.530C>G	c.(529-531)aCa>aGa	p.T177R		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	177					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)	p.T177R(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		ATAGGCCTGACAGAATTGATC	0.294																																																1	Substitution - Missense(1)	ovary(1)	6											85	81	82					6																	143792700		2203	4298	6501	143834393	SO:0001583	missense	8504			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.530C>G	6.37:g.143792700C>G	ENSP00000356563:p.Thr177Arg		143834393	Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365789	0.24684	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.40225	1.04;1.04	5.68	5.68	0.88126	.	0.189579	0.56097	D	0.000035	T	0.17789	0.0427	L	0.27053	0.805	0.44956	D	0.997975	B;B	0.31503	0.123;0.326	B;B	0.34536	0.026;0.185	T	0.04579	-1.0941	10	0.15499	T	0.54	-10.0695	14.3477	0.66678	0.0:0.929:0.0:0.071	.	177;177	B4DV31;P56589	.;PEX3_HUMAN	R	133;133;177	ENSP00000356564:T133R;ENSP00000356563:T177R	ENSP00000344195:T133R	T	+	2	0	PEX3	143834393	0.963000	0.33076	1.000000	0.80357	0.995000	0.86356	1.850000	0.39328	2.838000	0.97847	0.591000	0.81541	ACA		0.294	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			G	143792700	C	G	143792700	3	3	169	1	0	0	0	0	1	0	0	0	11747	478	17	3	556	3	PEX3	6	143792700	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	11621553	143792700	27322367	70	9604											
UST	10090	genome.wustl.edu	37	6	149342611	149342611	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:149342611G>C	ENST00000367463.4	+	7	1034	c.931G>C	c.(931-933)Gac>Cac	p.D311H		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	311					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.D311H(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TATCTACAAAGACCCAGGTAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	6											102	96	98					6																	149342611		2203	4300	6503	149384304	SO:0001583	missense	10090			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"Sulfotransferases, membrane-bound"	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.931G>C	6.37:g.149342611G>C	ENSP00000356433:p.Asp311His		149384304	B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812105	0.50527	.	.	ENSG00000111962	ENST00000367463	T	0.73681	-0.77	5.64	4.69	0.59074	.	0.208451	0.49916	D	0.000133	T	0.37571	0.1008	N	0.12182	0.205	0.40860	D	0.983829	B	0.16166	0.016	B	0.29440	0.102	T	0.41998	-0.9477	10	0.46703	T	0.11	-19.0774	3.2538	0.06824	0.5423:0.0:0.4577:0.0	.	311	Q9Y2C2	UST_HUMAN	H	311	ENSP00000356433:D311H	ENSP00000356433:D311H	D	+	1	0	UST	149384304	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.435000	0.73412	1.425000	0.47237	0.650000	0.86243	GAC		0.453	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		C	149342611	G	C	149342611	3	2	169	1	0	0	0	0	1	0	0	0	17093	942	33	3	957	3	UST	6	149342611	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	5549911	149342611	21772456	71	9605											
FAM120B	84498	genome.wustl.edu	37	6	170713658	170713659	+	Frame_Shift_Ins	INS	-	-	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	-	-	-	T	-	-	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr6:170713658_170713659insT	ENST00000476287.1	+	10	2821_2822	c.2713_2714insT	c.(2713-2715)gacfs	p.D905fs	FAM120B_ENST00000537664.1_Frame_Shift_Ins_p.D928fs|FAM120B_ENST00000496635.1_3'UTR|FAM120B_ENST00000540480.1_Frame_Shift_Ins_p.D917fs|FAM120B_ENST00000252510.9_Frame_Shift_Ins_p.D237fs	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	905					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTATGAGCATGACCAGTGGAGA	0.386																																																1	Unknown(1)	ovary(1)	6																																								170555584	SO:0001589	frameshift_variant	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	Exception_encountered	6.37:g.170713658_170713659insT	ENSP00000417970:p.Asp905fs		170555583	B4DL34|Q86V68|Q96JI9	Frame_Shift_Ins	INS	ENST00000476287.1	37	CCDS5314.1																																																																																				0.386	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		T	170713659	-	T	170713658	7	5	169	1	0	1	1	0	0	0	0	0	5417	1290	45	0	2747	0	FAM120B	6	170713658	Frame_Shift_Ins	INS	-	TCGA-23-1022-01A-02W-0488-09	21371047	170713658	401409	72	9606											
C7orf16	10842	genome.wustl.edu	37	7	31746836	31746836	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:31746836A>G	ENST00000342032.3	+	5	1035	c.407A>G	c.(406-408)gAc>gGc	p.D136G	PPP1R17_ENST00000409146.3_Missense_Mutation_p.D85G|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	136					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.D136G(1)									TTGCTCAGGGACGAGAGACCC	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											132	115	121					7																	31746836		2203	4300	6503	31713361	SO:0001583	missense	10842			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.407A>G	7.37:g.31746836A>G	ENSP00000340125:p.Asp136Gly		31713361	B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.944535	0.34283	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.33865	1.4;1.39	5.86	3.52	0.40303	.	0.278005	0.35407	N	0.003235	T	0.25938	0.0632	L	0.41236	1.265	0.29332	N	0.866636	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.003	T	0.12268	-1.0554	10	0.31617	T	0.26	-3.3014	6.8767	0.24151	0.8243:0.0:0.1757:0.0	.	85;136	B4DE58;O96001	.;PPR17_HUMAN	G	136;85	ENSP00000340125:D136G;ENSP00000386459:D85G	ENSP00000340125:D136G	D	+	2	0	C7orf16	31713361	0.989000	0.36119	0.799000	0.32177	0.926000	0.56050	2.904000	0.48719	1.157000	0.42530	0.528000	0.53228	GAC		0.418	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		G	31746836	A	G	31746836	3	3	169	1	0	0	0	0	1	0	0	0	2378	275	10	4	421	4	C7orf16	7	31746836	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09		31746836	127391827	73	9607											
BMPER	168667	genome.wustl.edu	37	7	33976958	33976958	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:33976958C>G	ENST00000297161.2	+	4	651	c.277C>G	c.(277-279)Ctg>Gtg	p.L93V	BMPER_ENST00000426693.1_Missense_Mutation_p.L93V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	93	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.L93V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGACTGTGCCCTGGCCATCAA	0.478																																																1	Substitution - Missense(1)	ovary(1)	7											123	113	116					7																	33976958		2203	4300	6503	33943483	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.277C>G	7.37:g.33976958C>G	ENSP00000297161:p.Leu93Val		33943483	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658253	0.29425	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64991	-0.13;-0.13	5.18	3.39	0.38822	von Willebrand factor, type C (2);	0.000000	0.64402	D	0.000004	T	0.43942	0.1270	L	0.35723	1.085	0.50467	D	0.999872	P	0.43750	0.816	B	0.32762	0.152	T	0.29058	-1.0024	10	0.40728	T	0.16	.	8.9439	0.35747	0.0:0.7714:0.0:0.2286	.	93	Q8N8U9	BMPER_HUMAN	V	93	ENSP00000297161:L93V;ENSP00000393950:L93V	ENSP00000297161:L93V	L	+	1	2	BMPER	33943483	1.000000	0.71417	0.998000	0.56505	0.105000	0.19272	2.278000	0.43426	0.572000	0.29383	-0.251000	0.11542	CTG		0.478	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		G	33976958	C	G	33976958	3	3	169	1	0	0	0	0	1	0	0	0	1468	680	24	3	287	3	BMPER	7	33976958	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	2230122	33976958	125161705	74	9608											
MGC26647	219557	genome.wustl.edu	37	7	88423915	88423915	+	Silent	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:88423915A>G	ENST00000297203.2	-	2	527	c.342T>C	c.(340-342)taT>taC	p.Y114Y	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	114								p.Y114Y(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CATGGCCAATATAATCTAAAA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	7											54	55	55					7																	88423915		2203	4300	6503	88261851	SO:0001819	synonymous_variant	219557			BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.342T>C	7.37:g.88423915A>G			88261851		Silent	SNP	ENST00000297203.2	37	CCDS34678.1																																																																																				0.373	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		G	88423915	A	G	88423915	2	3	169	1	0	0	0	0	0	0	0	1	9550	456	16	4		4	MGC26647	7	88423915	Silent	SNP	A	TCGA-23-1022-01A-02W-0488-09	54446957	88423915	70714748	75	9609											
COL1A2	1278	genome.wustl.edu	37	7	94054949	94054949	+	Missense_Mutation	SNP	G	G	A	rs72659309		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:94054949G>A	ENST00000297268.6	+	43	3280	c.2809G>A	c.(2809-2811)Ggt>Agt	p.G937S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	937					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G937S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCCCAGGTCGCGATGG	0.478										HNSCC(75;0.22)																																						1	Substitution - Missense(1)	ovary(1)	7	GRCh37	CM070783	COL1A2	M	rs72659309						105	95	98					7																	94054949		2203	4300	6503	93892885	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2809G>A	7.37:g.94054949G>A	ENSP00000297268:p.Gly937Ser		93892885	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927895	0.92389	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99167	-5.51	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98459	1.0595	10	0.87932	D	0	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	937	P08123	CO1A2_HUMAN	S	937;938	ENSP00000297268:G937S	ENSP00000297268:G937S	G	+	1	0	COL1A2	93892885	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GGT		0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94054949	G	A	94054949	3	1	169	1	0	0	0	0	1	0	0	0	3678	1000	35	2	2979	2	COL1A2	7	94054949	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	5631034	94054949	65083714	76	9610											
ASNS	440	genome.wustl.edu	37	7	97482384	97482384	+	Nonsense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:97482384G>C	ENST00000394309.3	-	12	1935	c.1464C>G	c.(1462-1464)taC>taG	p.Y488*	ASNS_ENST00000444334.1_Nonsense_Mutation_p.Y467*|ASNS_ENST00000175506.4_Nonsense_Mutation_p.Y488*|ASNS_ENST00000422745.1_Nonsense_Mutation_p.Y467*|ASNS_ENST00000437628.1_Nonsense_Mutation_p.Y405*|ASNS_ENST00000455086.1_Nonsense_Mutation_p.Y405*|ASNS_ENST00000394308.3_Nonsense_Mutation_p.Y488*	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	488	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.Y488*(2)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GATGTTCAACGTATTCCTGTA	0.353																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)											2	Substitution - Nonsense(2)	ovary(2)	7											39	37	38					7																	97482384		2203	4299	6502	97320320	SO:0001587	stop_gained	440			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1464C>G	7.37:g.97482384G>C	ENSP00000377846:p.Tyr488*		97320320	A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Nonsense_Mutation	SNP	ENST00000394309.3	37	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	39	7.372672	0.98241	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	.	.	.	3.63	-3.07	0.05363	.	0.318671	0.34156	N	0.004209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6364	10.0663	0.42306	0.5217:0.0:0.4783:0.0	.	.	.	.	X	488;488;405;488;467;405;467	.	ENSP00000175506:Y488X	Y	-	3	2	ASNS	97320320	0.182000	0.23173	0.008000	0.14137	0.839000	0.47603	0.229000	0.17833	-0.636000	0.05524	-1.191000	0.01696	TAC		0.353	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		C	97482384	G	C	97482384	4	2	169	1	0	0	0	0	0	1	0	0	1048	1140	40	3	229	3	ASNS	7	97482384	Nonsense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	3427435	97482384	61656279	77	9611											
LMTK2	22853	genome.wustl.edu	37	7	97833389	97833389	+	Silent	SNP	G	G	A	rs542059077	byFrequency	TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:97833389G>A	ENST00000297293.5	+	13	4667	c.4374G>A	c.(4372-4374)acG>acA	p.T1458T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1458				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCGGAGCACGGAGCAGAGCT	0.572													G|||	3	0.000599042	8e-04	0	5008	,	,		14903	0.002		0	False		,,,				2504	0															0			7											81	90	87					7																	97833389		2203	4300	6503	97671325	SO:0001819	synonymous_variant	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4374G>A	7.37:g.97833389G>A			97671325	A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	CCDS5654.1																																																																																				0.572	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		A	97833389	G	A	97833389	2	1	169	1	0	0	0	0	0	0	0	1	8859	1103	39	1		1	LMTK2	7	97833389	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	351005	97833389	61305274	78	9612											
TAF6	6878	genome.wustl.edu	37	7	99709850	99709850	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:99709850G>T	ENST00000344095.4	-	7	1126	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	TAF6_ENST00000453269.2_Missense_Mutation_p.L201M|TAF6_ENST00000452041.1_Missense_Mutation_p.L201M|TAF6_ENST00000437822.2_Missense_Mutation_p.L238M|TAF6_ENST00000472509.1_Missense_Mutation_p.L258M|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000418432.2_Missense_Mutation_p.L125M|RP11-506M12.1_ENST00000494221.1_RNA	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	201					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L201M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCCCTCCAGCAAGGGCGGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	7											28	36	34					7																	99709850		2202	4300	6502	99547786	SO:0001583	missense	6878				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.601C>A	7.37:g.99709850G>T	ENSP00000344537:p.Leu201Met		99547786	A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423324	0.62733	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822;ENST00000493322;ENST00000440225	T;T;T;T;T;T;T	0.45668	0.9;0.89;0.9;0.9;0.9;0.96;0.94	4.99	4.11	0.48088	.	0.469100	0.19100	N	0.122740	T	0.44561	0.1299	L	0.34521	1.04	0.31409	N	0.675751	D;D;D;D;D;D	0.63880	0.987;0.993;0.987;0.978;0.993;0.987	P;P;P;P;P;P	0.59221	0.719;0.854;0.719;0.706;0.719;0.7	T	0.48969	-0.8987	10	0.46703	T	0.11	-13.6225	7.7042	0.28640	0.1865:0.0:0.8134:0.0	.	238;201;191;201;201;125	B4DT11;P49848-2;A4D299;P49848;C9JTY6;B3KUR4	.;.;.;TAF6_HUMAN;.;.	M	201;258;201;201;125;238;201;182	ENSP00000389575:L201M;ENSP00000419760:L258M;ENSP00000416396:L201M;ENSP00000344537:L201M;ENSP00000399982:L238M;ENSP00000419555:L201M;ENSP00000410012:L182M	ENSP00000344537:L201M	L	-	1	2	TAF6	99547786	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.860000	0.62961	1.319000	0.45190	0.563000	0.77884	CTG		0.567	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		T	99709850	G	T	99709850	3	4	169	1	0	0	0	0	1	0	0	0	15530	962	34	3	1468	3	TAF6	7	99709850	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	1876461	99709850	59428813	79	9613											
LRCH4	4034	genome.wustl.edu	37	7	100173896	100173896	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:100173896G>T	ENST00000310300.6	-	15	1655	c.1603C>A	c.(1603-1605)Cca>Aca	p.P535T	SAP25_ENST00000538735.1_5'Flank|LRCH4_ENST00000497245.1_Missense_Mutation_p.P83T	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	535	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)		p.P535T(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCTCATCTGGAACCTGGGGG	0.632																																																1	Substitution - Missense(1)	ovary(1)	7											34	36	35					7																	100173896		2203	4300	6503	100011832	SO:0001583	missense	4034			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1603C>A	7.37:g.100173896G>T	ENSP00000309689:p.Pro535Thr		100011832	A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	CCDS34706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.470|1.470	-0.560200|-0.560200	0.03939|0.03939	.|.	.|.	ENSG00000077454|ENSG00000077454	ENST00000485554|ENST00000310300;ENST00000497245	.|T;T	.|0.45276	.|1.5;0.9	4.14|4.14	1.08|1.08	0.20341|0.20341	.|Calponin homology domain (1);	.|0.891443	.|0.09738	.|N	.|0.762221	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.28713	.|0.017;0.22	.|B;B	.|0.28139	.|0.01;0.086	T|T	0.20974|0.20974	-1.0259|-1.0259	5|10	.|0.54805	.|T	.|0.06	0.5773|0.5773	3.732|3.732	0.08496|0.08496	0.2312:0.2073:0.5615:0.0|0.2312:0.2073:0.5615:0.0	.|.	.|83;535	.|C9JYK0;O75427	.|.;LRCH4_HUMAN	L|T	59|535;83	.|ENSP00000309689:P535T;ENSP00000419870:P83T	.|ENSP00000309689:P535T	F|P	-|-	3|1	2|0	LRCH4|LRCH4	100011832|100011832	0.000000|0.000000	0.05858|0.05858	0.020000|0.020000	0.16555|0.16555	0.101000|0.101000	0.19017|0.19017	0.193000|0.193000	0.17116|0.17116	0.518000|0.518000	0.28383|0.28383	0.555000|0.555000	0.69702|0.69702	TTC|CCA		0.632	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		T	100173896	G	T	100173896	3	4	169	1	0	0	0	0	1	0	0	0	8935	1174	41	3	464	3	LRCH4	7	100173896	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	464046	100173896	58964767	80	9614											
FBXO24	26261	genome.wustl.edu	37	7	100187937	100187937	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:100187937G>C	ENST00000241071.6	+	3	601	c.279G>C	c.(277-279)caG>caC	p.Q93H	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Splice_Site_p.Q93H|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Splice_Site_p.Q93H|FBXO24_ENST00000468962.1_Missense_Mutation_p.Q81H|FBXO24_ENST00000427939.2_Missense_Mutation_p.Q131H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	93					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.Q93H(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCCAAGATCAGGGTTCTGGAG	0.607																																																1	Substitution - Missense(1)	ovary(1)	7											59	51	54					7																	100187937		2203	4300	6503	100025873	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.279G>C	7.37:g.100187937G>C	ENSP00000241071:p.Gln93His		100025873	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628640	0.46944	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.66	4.66	0.58398	F-box domain, Skp2-like (1);	0.265146	0.27759	N	0.017962	T	0.34687	0.0906	N	0.08118	0	0.41271	D	0.986846	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.09377	0.001;0.001;0.001;0.004	T	0.25293	-1.0136	10	0.66056	D	0.02	-17.3398	15.1425	0.72620	0.0:0.0:1.0:0.0	.	81;131;93;93	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	116;93;93;93;98;81;131	ENSP00000419587:Q116H;ENSP00000241071:Q93H;ENSP00000353821:Q93H;ENSP00000419602:Q93H;ENSP00000417179:Q98H;ENSP00000420239:Q81H;ENSP00000416558:Q131H	ENSP00000241071:Q93H	Q	+	3	2	FBXO24	100025873	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	0.811000	0.27198	2.427000	0.82271	0.456000	0.33151	CAG		0.607	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			C	100187937	G	C	100187937	3	2	169	1	0	0	0	0	1	0	0	0	5735	991	35	3	446	3	FBXO24	7	100187937	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	14041	100187937	58950726	81	9615											
MUC17	140453	genome.wustl.edu	37	7	100683992	100683992	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:100683992A>T	ENST00000306151.4	+	3	9359	c.9295A>T	c.(9295-9297)Act>Tct	p.T3099S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3099	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3099S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAATCTCAACTTATAGTGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	7											262	266	265					7																	100683992		2203	4300	6503	100470712	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9295A>T	7.37:g.100683992A>T	ENSP00000302716:p.Thr3099Ser		100470712	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	9.280	1.047996	0.19827	.	.	ENSG00000169876	ENST00000306151	T	0.03441	3.93	1.15	-0.369	0.12534	.	.	.	.	.	T	0.05090	0.0136	N	0.24115	0.695	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.39078	-0.9631	9	0.16420	T	0.52	.	2.1865	0.03888	0.4497:0.3258:0.2246:0.0	.	3099	Q685J3	MUC17_HUMAN	S	3099	ENSP00000302716:T3099S	ENSP00000302716:T3099S	T	+	1	0	MUC17	100470712	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.322000	0.00513	-0.071000	0.12886	0.102000	0.15555	ACT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100683992	A	T	100683992	3	4	169	1	0	0	0	0	1	0	0	0	9974	43	2	5	9305	5	MUC17	7	100683992	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	496055	100683992	58454671	82	9616											
CBLL1	79872	genome.wustl.edu	37	7	107389401	107389401	+	Silent	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:107389401C>T	ENST00000440859.3	+	2	557	c.90C>T	c.(88-90)ctC>ctT	p.L30L	CBLL1_ENST00000222597.2_Silent_p.L30L|CBLL1_ENST00000415884.2_Silent_p.L30L	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	30					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L30L(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CTATAAAGCTCATCTCCAAAC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	7											141	142	142					7																	107389401		2203	4300	6503	107176637	SO:0001819	synonymous_variant	100128737			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.90C>T	7.37:g.107389401C>T			107176637	B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1																																																																																				0.423	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		T	107389401	C	T	107389401	2	4	169	1	0	0	0	0	0	0	0	1	2703	813	29	2		2	CBLL1	7	107389401	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	6705409	107389401	51749262	83	9617											
WNT2	7472	genome.wustl.edu	37	7	116937751	116937751	+	Silent	SNP	A	A	T	rs373540369		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:116937751A>T	ENST00000265441.3	-	4	1067	c.768T>A	c.(766-768)gcT>gcA	p.A256A		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	256					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.A256A(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACCTCTCGTTAGCCACAGTGA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	7											109	99	102					7																	116937751		2203	4300	6503	116724987	SO:0001819	synonymous_variant	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.768T>A	7.37:g.116937751A>T			116724987	A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	CCDS5771.1																																																																																				0.488	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		T	116937751	A	T	116937751	2	4	169	1	0	0	0	0	0	0	0	1	17386	407	15	5		5	WNT2	7	116937751	Silent	SNP	A	TCGA-23-1022-01A-02W-0488-09	9548350	116937751	42200912	84	9618											
PAX4	5078	genome.wustl.edu	37	7	127253098	127253098	+	Silent	SNP	G	G	C	rs115621771	byFrequency	TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:127253098G>C	ENST00000341640.2	-	6	874	c.669C>G	c.(667-669)ctC>ctG	p.L223L	PAX4_ENST00000463946.1_Silent_p.L221L|PAX4_ENST00000338516.3_Silent_p.L231L|PAX4_ENST00000378740.2_Silent_p.L223L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	231					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.L223L(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTTCCCACTTGAGCTTCTCTT	0.527																																					Ovarian(113;737 1605 7858 27720 34092)											1	Substitution - coding silent(1)	ovary(1)	7											264	195	218					7																	127253098		2203	4300	6503	127040334	SO:0001819	synonymous_variant	5078				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.669C>G	7.37:g.127253098G>C			127040334	O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	CCDS5797.1																																																																																				0.527	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			C	127253098	G	C	127253098	2	2	169	1	0	0	0	0	0	0	0	1	11481	1277	45	3		3	PAX4	7	127253098	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	10315347	127253098	31885565	85	9619											
CHRM2	1129	genome.wustl.edu	37	7	136699896	136699896	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:136699896T>G	ENST00000445907.2	+	3	812	c.284T>G	c.(283-285)gTg>gGg	p.V95G	hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V95G|CHRM2_ENST00000401861.1_Missense_Mutation_p.V95G|CHRM2_ENST00000453373.1_Missense_Mutation_p.V95G|CHRM2_ENST00000320658.5_Missense_Mutation_p.V95G|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V95G|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	95					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.V95G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGACCTGTGGTGTGTGACCTT	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											195	184	188					7																	136699896		2203	4300	6503	136350436	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.284T>G	7.37:g.136699896T>G	ENSP00000399745:p.Val95Gly		136350436	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.549583	0.65311	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.69463	2.115	0.80722	D	1	D	0.63046	0.992	D	0.63597	0.916	T	0.52983	-0.8502	10	0.33141	T	0.24	-6.1645	15.8611	0.79021	0.0:0.0:0.0:1.0	.	95	P08172	ACM2_HUMAN	G	95	ENSP00000399745:V95G;ENSP00000415386:V95G;ENSP00000319984:V95G;ENSP00000380733:V95G;ENSP00000384937:V95G;ENSP00000384401:V95G	ENSP00000319984:V95G	V	+	2	0	CHRM2	136350436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.243000	0.72384	2.145000	0.66743	0.529000	0.55759	GTG		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			G	136699896	T	G	136699896	3	3	169	1	0	0	0	0	1	0	0	0	3377	1696	59	5	286	5	CHRM2	7	136699896	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	9446798	136699896	22438767	86	9620											
DENND2A	27147	genome.wustl.edu	37	7	140301270	140301270	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:140301270A>C	ENST00000275884.6	-	2	1345	c.928T>G	c.(928-930)Tct>Gct	p.S310A	DENND2A_ENST00000496613.1_Missense_Mutation_p.S310A|DENND2A_ENST00000492720.1_Missense_Mutation_p.S310A|DENND2A_ENST00000537639.1_Missense_Mutation_p.S310A			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	310					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S310A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ggtgggggagaggagggcaga	0.597																																																1	Substitution - Missense(1)	ovary(1)	7											44	49	48					7																	140301270		1974	4151	6125	139947739	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.928T>G	7.37:g.140301270A>C	ENSP00000275884:p.Ser310Ala		139947739	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.109456	0.56398	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10005	3.63;3.63;3.63;2.92	4.85	4.85	0.62838	.	0.209266	0.43260	D	0.000581	T	0.12817	0.0311	L	0.55834	1.745	0.38068	D	0.936296	B;B	0.29862	0.259;0.104	B;B	0.25291	0.041;0.059	T	0.05241	-1.0897	10	0.51188	T	0.08	-9.5576	14.5958	0.68407	1.0:0.0:0.0:0.0	.	310;310	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	A	310	ENSP00000275884:S310A;ENSP00000442245:S310A;ENSP00000419654:S310A;ENSP00000419464:S310A	ENSP00000275884:S310A	S	-	1	0	DENND2A	139947739	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.161000	0.77505	2.038000	0.60285	0.379000	0.24179	TCT		0.597	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		C	140301270	A	C	140301270	3	2	169	1	0	0	0	0	1	0	0	0	4429	304	11	5	2173	5	DENND2A	7	140301270	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	3601374	140301270	18837393	87	9621											
GIMAP5	55340	genome.wustl.edu	37	7	150439380	150439380	+	Silent	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:150439380C>G	ENST00000358647.3	+	3	520	c.153C>G	c.(151-153)ccC>ccG	p.P51P	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	51	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.P51P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGCCAGCCCGTGTTTGAGT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	7											88	74	79					7																	150439380		2203	4300	6503	150070313	SO:0001819	synonymous_variant	55340			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.153C>G	7.37:g.150439380C>G			150070313	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	CCDS5907.1																																																																																				0.552	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		G	150439380	C	G	150439380	2	3	169	1	0	0	0	0	0	0	0	1	6382	639	23	3		3	GIMAP5	7	150439380	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	10138110	150439380	8699283	88	9622											
ABP1	26	genome.wustl.edu	37	7	150557711	150557711	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr7:150557711T>C	ENST00000493429.1	+	6	2563	c.1979T>C	c.(1978-1980)aTt>aCt	p.I660T	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.I679T|AOC1_ENST00000467291.1_Missense_Mutation_p.I660T|AOC1_ENST00000360937.4_Missense_Mutation_p.I660T			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	660					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.I660T(1)								Amiloride(DB00594)	AACGAGAACATTGAAAATGAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	7											130	142	138					7																	150557711		2080	4221	6301	150188644	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1979T>C	7.37:g.150557711T>C	ENSP00000418614:p.Ile660Thr		150188644	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.572749	0.65765	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.05	5.05	0.67936	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.977	T	0.47195	-0.9136	10	0.87932	D	0	-39.4316	12.7556	0.57333	0.0:0.0:0.0:1.0	.	679;660	C9J690;P19801	.;ABP1_HUMAN	T	660;660;660;679;536	ENSP00000418614:I660T;ENSP00000418328:I660T;ENSP00000354193:I660T;ENSP00000411613:I679T	ENSP00000354193:I660T	I	+	2	0	ABP1	150188644	1.000000	0.71417	0.996000	0.52242	0.557000	0.35523	3.868000	0.56055	1.907000	0.55213	0.402000	0.26972	ATT		0.602	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		C	150557711	T	C	150557711	3	2	169	1	0	0	0	0	1	0	0	0	98	1493	52	4	1989	4	ABP1	7	150557711	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	118331	150557711	8580952	89	9623											
MATN2	4147	genome.wustl.edu	37	8	98954029	98954029	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr8:98954029A>T	ENST00000520016.1	+	3	861	c.737A>T	c.(736-738)gAg>gTg	p.E246V	MATN2_ENST00000522025.2_Splice_Site|MATN2_ENST00000254898.5_Missense_Mutation_p.E246V|MATN2_ENST00000524308.1_Missense_Mutation_p.E246V|MATN2_ENST00000521689.1_Missense_Mutation_p.E246V			O00339	MATN2_HUMAN	matrilin 2	246	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E246V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGCACCCTGGAGCATAACTGT	0.502																																																1	Substitution - Missense(1)	ovary(1)	8											100	103	102					8																	98954029		2139	4252	6391	99023205	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.737A>T	8.37:g.98954029A>T	ENSP00000430487:p.Glu246Val		99023205	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.139744	0.56936	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.24	4.08	0.47627	Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.672540	0.13775	N	0.363633	D	0.92424	0.7595	L	0.33137	0.985	0.37674	D	0.923244	B;B;B;B	0.14438	0.01;0.004;0.005;0.007	B;B;B;B	0.16289	0.015;0.009;0.015;0.015	D	0.88398	0.3013	10	0.38643	T	0.18	-6.9535	9.3587	0.38182	0.9175:0.0:0.0825:0.0	.	246;246;246;246	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	V	246	ENSP00000429977:E246V;ENSP00000254898:E246V;ENSP00000430221:E246V;ENSP00000430487:E246V	ENSP00000254898:E246V	E	+	2	0	MATN2	99023205	1.000000	0.71417	0.989000	0.46669	0.894000	0.52154	2.476000	0.45171	0.839000	0.34971	-0.379000	0.06801	GAG		0.502	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	98954029	A	T	98954029	3	4	169	1	0	0	0	0	1	0	0	0	9334	304	11	5	747	5	MATN2	8	98954029	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09		98954029	47409993	90	9624											
ABRA	137735	genome.wustl.edu	37	8	107782232	107782232	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr8:107782232G>T	ENST00000311955.3	-	1	241	c.187C>A	c.(187-189)Cct>Act	p.P63T		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.P63T(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ATTGGTTTAGGAGCTTGAGGT	0.607																																																1	Substitution - Missense(1)	ovary(1)	8											89	90	90					8																	107782232		2203	4300	6503	107851408	SO:0001583	missense	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.187C>A	8.37:g.107782232G>T	ENSP00000311436:p.Pro63Thr		107851408		Missense_Mutation	SNP	ENST00000311955.3	37	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	2.325	-0.354630	0.05138	.	.	ENSG00000174429	ENST00000311955	D	0.91740	-2.9	5.66	0.368	0.16146	.	0.804396	0.11835	N	0.524850	D	0.85305	0.5666	L	0.50333	1.59	0.09310	N	1	B	0.18610	0.029	B	0.15052	0.012	T	0.70385	-0.4886	10	0.31617	T	0.26	0.172	0.8137	0.01098	0.3794:0.1161:0.2683:0.2362	.	63	Q8N0Z2	ABRA_HUMAN	T	63	ENSP00000311436:P63T	ENSP00000311436:P63T	P	-	1	0	ABRA	107851408	0.000000	0.05858	0.008000	0.14137	0.330000	0.28571	0.103000	0.15292	0.030000	0.15379	-0.150000	0.13652	CCT		0.607	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		T	107782232	G	T	107782232	3	4	169	1	0	0	0	0	1	0	0	0	100	1174	41	3	966	3	ABRA	8	107782232	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	8828203	107782232	38581790	91	9625											
PKHD1L1	93035	genome.wustl.edu	37	8	110530403	110530403	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	-	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr8:110530403delC	ENST00000378402.5	+	73	11801	c.11697delC	c.(11695-11697)ttcfs	p.F3899fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3899					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L3904fs*38(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGACCAATTCCTTCCTAACC	0.343										HNSCC(38;0.096)																																						1	Deletion - Frameshift(1)	ovary(1)	8											75	66	68					8																	110530403		1859	4094	5953	110599579	SO:0001589	frameshift_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11697delC	8.37:g.110530403delC	ENSP00000367655:p.Phe3899fs		110599579	Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	CCDS47911.1																																																																																				0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		-	110530403	C	-	110530403	7	5	169	1	0	1	0	1	0	0	0	0	11972	854	30	0	11987	0	PKHD1L1	8	110530403	Frame_Shift_Del	DEL	C	TCGA-23-1022-01A-02W-0488-09	2748171	110530403	35833619	92	9626											
FAM135B	51059	genome.wustl.edu	37	8	139144882	139144882	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr8:139144882A>G	ENST00000395297.1	-	20	4345	c.4175T>C	c.(4174-4176)tTc>tCc	p.F1392S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1392								p.F1392S(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTCTCCAGGAAGAGTTCTGA	0.522										HNSCC(54;0.14)																																						4	Substitution - Missense(4)	ovary(2)|lung(2)	8											179	187	184					8																	139144882		1954	4149	6103	139214064	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4175T>C	8.37:g.139144882A>G	ENSP00000378710:p.Phe1392Ser		139214064	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434611	0.83885	.	.	ENSG00000147724	ENST00000395297	T	0.26957	1.7	5.74	5.74	0.90152	.	0.059495	0.64402	D	0.000002	T	0.54983	0.1892	M	0.82517	2.595	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.61456	-0.7059	10	0.87932	D	0	-24.7186	15.226	0.73352	1.0:0.0:0.0:0.0	.	1392	Q49AJ0	F135B_HUMAN	S	1392	ENSP00000378710:F1392S	ENSP00000378710:F1392S	F	-	2	0	FAM135B	139214064	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	9.339000	0.96797	2.206000	0.71126	0.482000	0.46254	TTC		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		G	139144882	A	G	139144882	3	3	169	1	0	0	0	0	1	0	0	0	5449	246	9	4	49	4	FAM135B	8	139144882	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	28614479	139144882	7219140	93	9627											
SHARPIN	81858	genome.wustl.edu	37	8	145153859	145153859	+	Silent	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr8:145153859G>A	ENST00000398712.2	-	8	1522	c.1086C>T	c.(1084-1086)gcC>gcT	p.A362A	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	362					apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)	p.A362A(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCGGTCTGGGGCATTGATGA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	8											54	58	57					8																	145153859		2048	4217	6265	145225847	SO:0001819	synonymous_variant	81858			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.1086C>T	8.37:g.145153859G>A			145225847	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	ENST00000398712.2	37	CCDS43777.1	.	.	.	.	.	.	.	.	.	.	g	15.59	2.879274	0.51801	.	.	ENSG00000179526	ENST00000359551	T	0.31510	1.49	4.62	0.638	0.17742	.	1.121610	0.06917	N	0.808765	T	0.27731	0.0682	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37686	-0.9695	7	0.39692	T	0.17	.	7.2447	0.26115	0.3912:0.0:0.6088:0.0	.	.	.	.	S	321	ENSP00000352551:P321S	ENSP00000352551:P321S	P	-	1	0	SHARPIN	145225847	0.958000	0.32768	0.540000	0.28089	0.760000	0.43138	0.542000	0.23222	0.188000	0.20168	0.550000	0.68814	CCC		0.612	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		A	145153859	G	A	145153859	2	1	169	1	0	0	0	0	0	0	0	1	14270	1219	43	2		2	SHARPIN	8	145153859	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	6008977	145153859	1210163	94	9628											
RANBP6	26953	genome.wustl.edu	37	9	6015291	6015291	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr9:6015291T>C	ENST00000259569.5	-	1	327	c.317A>G	c.(316-318)aAg>aGg	p.K106R	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	106					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K106R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TGTTTCTAACTTAACAGCCAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	9											77	79	78					9																	6015291		2203	4300	6503	6005291	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.317A>G	9.37:g.6015291T>C	ENSP00000259569:p.Lys106Arg		6005291	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.931252	0.34096	.	.	ENSG00000137040	ENST00000259569	T	0.09723	2.95	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.112660	0.64402	D	0.000009	T	0.06280	0.0162	N	0.14661	0.345	0.32630	N	0.522188	B	0.02656	0.0	B	0.04013	0.001	T	0.15549	-1.0433	10	0.11794	T	0.64	-10.6746	12.4374	0.55606	0.0:0.0:0.0:1.0	.	106	O60518	RNBP6_HUMAN	R	106	ENSP00000259569:K106R	ENSP00000259569:K106R	K	-	2	0	RANBP6	6005291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.678000	0.68153	2.254000	0.74563	0.459000	0.35465	AAG		0.443	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		C	6015291	T	C	6015291	3	2	169	1	0	0	0	0	1	0	0	0	13034	1609	56	4	3004	4	RANBP6	9	6015291	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09		6015291	135198140	95	9629											
KIAA1797	54914	genome.wustl.edu	37	9	20881926	20881926	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr9:20881926G>T	ENST00000380249.1	+	22	2738	c.2374G>T	c.(2374-2376)Ggg>Tgg	p.G792W	FOCAD_ENST00000338382.6_Missense_Mutation_p.G792W|FOCAD_ENST00000605086.1_Missense_Mutation_p.G228W	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	792						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.G792W(1)									TATGCCTCGTGGGATATATCA	0.368																																																1	Substitution - Missense(1)	ovary(1)	9											87	97	94					9																	20881926		2203	4300	6503	20871926	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2374G>T	9.37:g.20881926G>T	ENSP00000369599:p.Gly792Trp		20871926	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730071	0.89390	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.10099	2.91;2.91	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00953	-1.1502	10	0.87932	D	0	-27.0064	20.1022	0.97879	0.0:0.0:1.0:0.0	.	792	Q5VW36	K1797_HUMAN	W	792	ENSP00000369599:G792W;ENSP00000344307:G792W	ENSP00000344307:G792W	G	+	1	0	KIAA1797	20871926	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.682000	0.98655	2.759000	0.94783	0.555000	0.69702	GGG		0.368	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		T	20881926	G	T	20881926	3	4	169	1	0	0	0	0	1	0	0	0	8258	1348	47	3	2448	3	KIAA1797	9	20881926	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	14866635	20881926	120331505	96	9630											
KIF24	347240	genome.wustl.edu	37	9	34255784	34255784	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr9:34255784C>T	ENST00000402558.2	-	10	3845	c.3821G>A	c.(3820-3822)tGc>tAc	p.C1274Y	KIF24_ENST00000379174.3_Missense_Mutation_p.C1140Y|KIF24_ENST00000379166.2_Missense_Mutation_p.C1274Y|KIF24_ENST00000345050.2_Missense_Mutation_p.C1140Y			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1274					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C756Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTTGGGAGAGCAGCTGGGAAC	0.562											OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	9											72	59	64					9																	34255784		2203	4300	6503	34245784	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3821G>A	9.37:g.34255784C>T	ENSP00000384433:p.Cys1274Tyr	846	34245784	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	9.912	1.209856	0.22289	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050	T;T;T;T	0.71222	-0.33;-0.55;-0.33;-0.55	4.73	3.76	0.43208	.	0.149300	0.31884	N	0.006905	T	0.65637	0.2710	M	0.62723	1.935	0.34193	D	0.67224	B	0.06786	0.001	B	0.06405	0.002	T	0.71307	-0.4632	10	0.44086	T	0.13	.	11.8133	0.52195	0.1749:0.8251:0.0:0.0	.	1274	Q5T7B8	KIF24_HUMAN	Y	1274;1140;1274;1140	ENSP00000384433:C1274Y;ENSP00000368472:C1140Y;ENSP00000368464:C1274Y;ENSP00000340179:C1140Y	ENSP00000340179:C1140Y	C	-	2	0	KIF24	34245784	0.066000	0.20996	0.996000	0.52242	0.330000	0.28571	0.375000	0.20518	2.604000	0.88044	0.650000	0.86243	TGC		0.562	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			T	34255784	C	T	34255784	3	4	169	1	0	0	0	0	1	0	0	0	8292	710	25	2	297	2	KIF24	9	34255784	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	13373858	34255784	106957647	97	9631											
RORB	6096	genome.wustl.edu	37	9	77257495	77257495	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr9:77257495A>G	ENST00000396204.2	+	4	434	c.434A>G	c.(433-435)aAc>aGc	p.N145S	RORB_ENST00000376896.3_Missense_Mutation_p.N134S			Q92753	RORB_HUMAN	RAR-related orphan receptor B	145	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.N134S(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AGCAACCTGAACAACGAGACC	0.597																																																1	Substitution - Missense(1)	ovary(1)	9											122	99	106					9																	77257495		2203	4300	6503	76447315	SO:0001583	missense	6096			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.434A>G	9.37:g.77257495A>G	ENSP00000379507:p.Asn145Ser		76447315	Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37		.	.	.	.	.	.	.	.	.	.	A	5.240	0.229713	0.09916	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.93488	-3.22;-3.23	5.63	-2.82	0.05787	.	0.589252	0.20979	N	0.082256	D	0.84311	0.5444	N	0.25647	0.755	0.44188	D	0.997007	B;B	0.19331	0.035;0.033	B;B	0.17098	0.017;0.013	T	0.66712	-0.5854	10	0.09590	T	0.72	.	11.6213	0.51119	0.649:0.0:0.351:0.0	.	145;134	Q92753;Q58EY0	RORB_HUMAN;.	S	134;145	ENSP00000366093:N134S;ENSP00000379507:N145S	ENSP00000366093:N134S	N	+	2	0	RORB	76447315	0.995000	0.38212	0.041000	0.18516	0.947000	0.59692	1.383000	0.34385	-0.819000	0.04323	0.533000	0.62120	AAC		0.597	RORB-201	KNOWN	basic	protein_coding	protein_coding				G	77257495	A	G	77257495	3	3	169	1	0	0	0	0	1	0	0	0	13532	43	2	4	415	4	RORB	9	77257495	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	43001711	77257495	63955936	98	9632											
S1PR3	1903	genome.wustl.edu	37	9	91617047	91617047	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr9:91617047G>T	ENST00000375846.3	+	1	5627	c.932G>T	c.(931-933)cGt>cTt	p.R311L	S1PR3_ENST00000358157.2_Missense_Mutation_p.R311L			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	311					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.R311L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GCCTTCTTCCGTCTGGTCTGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	9											47	43	44					9																	91617047		2203	4300	6503	90806867	SO:0001583	missense	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3167	protein-coding gene	gene with protein product	"sphingosine-1-phosphate receptor 3"	601965	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.932G>T	9.37:g.91617047G>T	ENSP00000365006:p.Arg311Leu		90806867	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611720	0.66558	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.40225	1.04;1.04	5.15	4.23	0.50019	.	0.316092	0.32002	N	0.006727	T	0.49898	0.1584	M	0.64567	1.98	0.46260	D	0.998957	D	0.54207	0.965	P	0.50049	0.629	T	0.55560	-0.8122	10	0.72032	D	0.01	.	14.2324	0.65903	0.0734:0.0:0.9266:0.0	.	311	Q99500	S1PR3_HUMAN	L	311	ENSP00000350878:R311L;ENSP00000365006:R311L	ENSP00000350878:R311L	R	+	2	0	S1PR3	90806867	1.000000	0.71417	0.960000	0.40013	0.487000	0.33371	3.815000	0.55651	2.683000	0.91414	0.313000	0.20887	CGT		0.607	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		T	91617047	G	T	91617047	3	4	169	1	0	0	0	0	1	0	0	0	13798	1145	40	3	934	3	S1PR3	9	91617047	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	14359552	91617047	49596384	99	9633											
ZFP37	7539	genome.wustl.edu	37	9	115818910	115818910	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr9:115818910C>T	ENST00000374227.3	-	1	86	c.59G>A	c.(58-60)aGa>aAa	p.R20K	ZFP37_ENST00000553380.1_Missense_Mutation_p.R20K|ZFP37_ENST00000555206.1_Missense_Mutation_p.R20K	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R20K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCCGCACTTCTCCTCCGGTC	0.667																																																1	Substitution - Missense(1)	ovary(1)	9											123	122	122					9																	115818910		2203	4300	6503	114858731	SO:0001583	missense	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.59G>A	9.37:g.115818910C>T	ENSP00000363344:p.Arg20Lys		114858731	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111607	0.37242	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05139	3.51;3.49;3.58	3.29	0.45	0.16624	.	.	.	.	.	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.46952	-0.9154	9	0.05721	T	0.95	.	5.4579	0.16600	0.0:0.6311:0.0:0.3689	.	20;20;20	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	K	20	ENSP00000363344:R20K;ENSP00000451310:R20K;ENSP00000452552:R20K	ENSP00000363344:R20K	R	-	2	0	ZFP37	114858731	0.001000	0.12720	0.000000	0.03702	0.096000	0.18686	-0.188000	0.09642	0.084000	0.17077	0.558000	0.71614	AGA		0.667	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		T	115818910	C	T	115818910	3	4	169	1	0	0	0	0	1	0	0	0	17648	913	32	2	1849	2	ZFP37	9	115818910	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	24201863	115818910	25394521	100	9634											
ODF2	4957	genome.wustl.edu	37	9	131256968	131256968	+	Intron	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr9:131256968G>T	ENST00000434106.3	+	17	2274				ODF2_ENST00000351030.3_Intron|ODF2_ENST00000372791.3_Silent_p.G625G|ODF2_ENST00000444119.2_Intron|ODF2_ENST00000393533.2_Silent_p.G644G|ODF2_ENST00000393527.3_Intron|ODF2_ENST00000372814.3_Silent_p.G688G|ODF2_ENST00000448249.3_Silent_p.G563G|ODF2_ENST00000546203.1_Silent_p.G625G|ODF2_ENST00000372807.5_Intron|ODF2_ENST00000604420.1_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGCAGAAAGGGTCCCACGAAC	0.567																																																0			9											49	49	49					9																	131256968		2203	4300	6503	130296789	SO:0001627	intron_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1911+21G>T	9.37:g.131256968G>T			130296789	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	CCDS56588.1																																																																																				0.567	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			T	131256968	G	T	131256968	1	4	169	0	1	0	0	0	0	0	0	0	10827	1248	44	3		3	ODF2	9	131256968	Intron	SNP	G	TCGA-23-1022-01A-02W-0488-09	15438058	131256968	9956463	101	9635											
ST8SIA6	338596	genome.wustl.edu	37	10	17363274	17363274	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr10:17363274A>C	ENST00000377602.4	-	8	874	c.800T>G	c.(799-801)cTt>cGt	p.L267R		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	267					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.L267R(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TGCTGGCAGAAGAAAAAATGC	0.368																																																1	Substitution - Missense(1)	ovary(1)	10											73	81	78					10																	17363274		2203	4300	6503	17403280	SO:0001583	missense	338596				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.800T>G	10.37:g.17363274A>C	ENSP00000366827:p.Leu267Arg		17403280	B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387435	0.82902	.	.	ENSG00000148488	ENST00000377610;ENST00000377602	T	0.33654	1.4	5.18	5.18	0.71444	.	0.061476	0.64402	D	0.000005	T	0.63070	0.2480	M	0.82630	2.6	0.53005	D	0.999963	D	0.89917	1.0	D	0.76071	0.987	T	0.67268	-0.5713	10	0.52906	T	0.07	-5.111	15.4962	0.75653	1.0:0.0:0.0:0.0	.	267	P61647	SIA8F_HUMAN	R	97;267	ENSP00000366827:L267R	ENSP00000366827:L267R	L	-	2	0	ST8SIA6	17403280	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.974000	0.76122	2.307000	0.77673	0.528000	0.53228	CTT		0.368	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		C	17363274	A	C	17363274	3	2	169	1	0	0	0	0	1	0	0	0	15238	72	3	5	400	5	ST8SIA6	10	17363274	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09		17363274	118171473	102	9636											
INA	9118	genome.wustl.edu	37	10	105048223	105048223	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr10:105048223A>C	ENST00000369849.4	+	3	1346	c.1297A>C	c.(1297-1299)Agt>Cgt	p.S433R		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	433	Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.S433R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TAGAATCCTCAGTGCTACAAC	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											123	118	120					10																	105048223		2203	4300	6503	105038213	SO:0001583	missense	9118			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1297A>C	10.37:g.105048223A>C	ENSP00000358865:p.Ser433Arg		105038213	B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521039	0.64747	.	.	ENSG00000148798	ENST00000369849	D	0.83506	-1.73	5.17	5.17	0.71159	.	0.104186	0.64402	D	0.000007	T	0.73598	0.3607	N	0.24115	0.695	0.46376	D	0.999016	B	0.02656	0.0	B	0.01281	0.0	T	0.70117	-0.4960	10	0.51188	T	0.08	.	14.1255	0.65217	1.0:0.0:0.0:0.0	.	433	Q16352	AINX_HUMAN	R	433	ENSP00000358865:S433R	ENSP00000358865:S433R	S	+	1	0	INA	105038213	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.564000	0.53791	2.173000	0.68751	0.454000	0.30748	AGT		0.507	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		C	105048223	A	C	105048223	3	2	169	1	0	0	0	0	1	0	0	0	7730	188	7	5	1307	5	INA	10	105048223	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	87684949	105048223	30486524	103	9637											
NRAP	4892	genome.wustl.edu	37	10	115368216	115368216	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr10:115368216G>T	ENST00000359988.3	-	32	3903	c.3659C>A	c.(3658-3660)cCc>cAc	p.P1220H	NRAP_ENST00000369358.4_Missense_Mutation_p.P1228H|NRAP_ENST00000360478.3_Missense_Mutation_p.P1185H|NRAP_ENST00000369360.3_Missense_Mutation_p.P1193H	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.P1220H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AAGGAGGTTGGGAGTGTCTGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	10											261	252	255					10																	115368216		2203	4300	6503	115358206	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3659C>A	10.37:g.115368216G>T	ENSP00000353078:p.Pro1220His		115358206		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073999	0.76415	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	6.17	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.82976	0.5154	M	0.85630	2.765	0.44736	D	0.997738	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	D	0.83637	0.0148	10	0.51188	T	0.08	.	15.4094	0.74905	0.0:0.0:0.8616:0.1384	.	1220;1185;1220	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	H	1228;1193;1220;1185	ENSP00000358365:P1228H;ENSP00000358367:P1193H;ENSP00000353078:P1220H;ENSP00000353666:P1185H	ENSP00000353078:P1220H	P	-	2	0	NRAP	115358206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.477000	0.66799	2.941000	0.99782	0.655000	0.94253	CCC		0.428	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		T	115368216	G	T	115368216	3	4	169	1	0	0	0	0	1	0	0	0	10638	1232	43	3	1577	3	NRAP	10	115368216	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	10319993	115368216	20166531	104	9638											
OR51E2	81285	genome.wustl.edu	37	11	4703040	4703040	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:4703040C>A	ENST00000396950.3	-	2	1141	c.902G>T	c.(901-903)cGg>cTg	p.R301L		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	301					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)	p.R301L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCCAGCACCCGTGTTCTGAT	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											153	127	136					11																	4703040		2201	4298	6499	4659616	SO:0001583	missense	81285			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.902G>T	11.37:g.4703040C>A	ENSP00000380153:p.Arg301Leu		4659616	B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799287	0.70567	.	.	ENSG00000167332	ENST00000396950	T	0.37584	1.19	5.35	5.35	0.76521	.	0.000000	0.41712	D	0.000840	T	0.50222	0.1603	L	0.39514	1.22	0.35947	D	0.833637	D	0.76494	0.999	D	0.70935	0.971	T	0.53795	-0.8388	10	0.40728	T	0.16	.	15.9013	0.79380	0.0:1.0:0.0:0.0	.	301	Q9H255	O51E2_HUMAN	L	301	ENSP00000380153:R301L	ENSP00000380153:R301L	R	-	2	0	OR51E2	4659616	0.499000	0.26083	0.975000	0.42487	0.669000	0.39330	0.878000	0.28126	2.781000	0.95711	0.655000	0.94253	CGG		0.488	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		A	4703040	C	A	4703040	3	1	169	1	0	0	0	0	1	0	0	0	11095	652	23	3	64	3	OR51E2	11	4703040	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09		4703040	130303476	105	9639											
PIK3C2A	5286	genome.wustl.edu	37	11	17172172	17172172	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:17172172G>C	ENST00000265970.7	-	3	1199	c.1200C>G	c.(1198-1200)caC>caG	p.H400Q	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.H20Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	400					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.H400Q(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GGTTTGTGCGGTGATTGGTAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	11											167	150	156					11																	17172172		2200	4293	6493	17128748	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1200C>G	11.37:g.17172172G>C	ENSP00000265970:p.His400Gln		17128748	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	3.738	-0.054187	0.07362	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.40476	1.03;1.03	5.94	1.47	0.22746	.	0.393472	0.28398	N	0.015486	T	0.18718	0.0449	N	0.12182	0.205	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.12837	0.008;0.001	T	0.09357	-1.0678	10	0.28530	T	0.3	-2.7413	2.9173	0.05757	0.2142:0.2862:0.3943:0.1053	.	400;400	F5H5W9;O00443	.;P3C2A_HUMAN	Q	400;20;400	ENSP00000265970:H400Q;ENSP00000438687:H20Q	ENSP00000265970:H400Q	H	-	3	2	PIK3C2A	17128748	0.001000	0.12720	0.390000	0.26220	0.186000	0.23388	-0.055000	0.11807	0.392000	0.25172	0.591000	0.81541	CAC		0.368	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		C	17172172	G	C	17172172	3	2	169	1	0	0	0	0	1	0	0	0	11909	1252	44	3	3980	3	PIK3C2A	11	17172172	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	12469132	17172172	117834344	106	9640											
CELF1	10658	genome.wustl.edu	37	11	47508323	47508323	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:47508323C>G	ENST00000358597.3	-	3	288	c.289G>C	c.(289-291)Gct>Cct	p.A97P	CELF1_ENST00000361904.3_Missense_Mutation_p.A97P|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000395292.2_Missense_Mutation_p.A97P|CELF1_ENST00000395290.2_Missense_Mutation_p.A97P|CELF1_ENST00000532048.1_Missense_Mutation_p.A124P|CELF1_ENST00000531165.1_Missense_Mutation_p.A124P|CELF1_ENST00000310513.5_Missense_Mutation_p.A97P			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	97	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)	p.A97P(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TCACTGTCAGCAGGTTTCATC	0.383																																					Pancreas(163;1949 1966 9906 43218 43785)											1	Substitution - Missense(1)	ovary(1)	11											172	167	169					11																	47508323		2201	4298	6499	47464899	SO:0001583	missense	10658			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.289G>C	11.37:g.47508323C>G	ENSP00000351409:p.Ala97Pro		47464899	B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743231	0.96873	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.80393	-1.37;0.83;0.83;0.83;0.83;0.83;0.83	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.92701	0.7680	M	0.92077	3.27	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.996;0.996;1.0;0.99	D	0.93526	0.6865	10	0.87932	D	0	-9.1305	20.2723	0.98479	0.0:1.0:0.0:0.0	.	97;124;124;97;97;97	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	P	97;97;97;97;97;124;124	ENSP00000378705:A97P;ENSP00000351409:A97P;ENSP00000378706:A97P;ENSP00000308386:A97P;ENSP00000354639:A97P;ENSP00000436864:A124P;ENSP00000435926:A124P	ENSP00000308386:A97P	A	-	1	0	CELF1	47464899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.793000	0.96121	0.563000	0.77884	GCT		0.383	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		G	47508323	C	G	47508323	3	3	169	1	0	0	0	0	1	0	0	0	3215	710	25	3	1214	3	CELF1	11	47508323	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	30336151	47508323	87498193	107	9641											
OR5AS1	219447	genome.wustl.edu	37	11	55798731	55798731	+	Silent	SNP	T	T	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:55798731T>G	ENST00000313555.1	+	1	837	c.837T>G	c.(835-837)acT>acG	p.T279T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T279T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGTTTTATACTGTTGTATTTC	0.363																																																1	Substitution - coding silent(1)	ovary(1)	11											70	65	66					11																	55798731		2201	4296	6497	55555307	SO:0001819	synonymous_variant	219447			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.837T>G	11.37:g.55798731T>G			55555307	Q6IFB8	Silent	SNP	ENST00000313555.1	37	CCDS31516.1																																																																																				0.363	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		G	55798731	T	G	55798731	2	3	169	1	0	0	0	0	0	0	0	1	11146	1567	55	5		5	OR5AS1	11	55798731	Silent	SNP	T	TCGA-23-1022-01A-02W-0488-09	8290408	55798731	79207785	108	9642											
OR4D6	219983	genome.wustl.edu	37	11	59225293	59225293	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:59225293A>C	ENST00000300127.2	+	1	883	c.860A>C	c.(859-861)tAt>tCt	p.Y287S		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y287S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCCATCATCTATTCCCTGAGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											112	114	113					11																	59225293		2201	4295	6496	58981869	SO:0001583	missense	219983			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.860A>C	11.37:g.59225293A>C	ENSP00000300127:p.Tyr287Ser		58981869	B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.779153	0.49891	.	.	ENSG00000166884	ENST00000300127	T	0.61742	0.08	6.01	6.01	0.97437	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000182	T	0.81192	0.4771	M	0.91920	3.255	0.50467	D	0.999875	D	0.89917	1.0	D	0.97110	1.0	D	0.85425	0.1145	10	0.87932	D	0	-17.2115	15.3555	0.74423	1.0:0.0:0.0:0.0	.	287	Q8NGJ1	OR4D6_HUMAN	S	287	ENSP00000300127:Y287S	ENSP00000300127:Y287S	Y	+	2	0	OR4D6	58981869	1.000000	0.71417	0.997000	0.53966	0.002000	0.02628	8.922000	0.92789	2.299000	0.77371	0.533000	0.62120	TAT		0.507	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		C	59225293	A	C	59225293	3	2	169	1	0	0	0	0	1	0	0	0	11058	449	16	5	862	5	OR4D6	11	59225293	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	3426562	59225293	75781223	109	9643											
SCGB2A2	4250	genome.wustl.edu	37	11	62037717	62037717	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:62037717C>T	ENST00000227918.2	+	1	91	c.29C>T	c.(28-30)gCg>gTg	p.A10V	SCGB2A2_ENST00000525380.1_Missense_Mutation_p.A10V	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	10								p.A10V(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						CTCATGCTGGCGGCCCTCTCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											131	124	126					11																	62037717		2202	4299	6501	61794293	SO:0001583	missense	4250			AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"Secretoglobins"	7050	protein-coding gene	gene with protein product	"mammaglobin A"	605562	"mammaglobin 1"	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	ENST00000227918.2:c.29C>T	11.37:g.62037717C>T	ENSP00000227918:p.Ala10Val		61794293	A1A522|Q86WH8	Missense_Mutation	SNP	ENST00000227918.2	37	CCDS8018.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463708	0.26335	.	.	ENSG00000110484	ENST00000227918;ENST00000525380	.	.	.	2.99	-2.06	0.07298	.	.	.	.	.	T	0.13500	0.0327	.	.	.	0.09310	N	1	B;B	0.27951	0.195;0.123	B;B	0.12837	0.008;0.004	T	0.26395	-1.0104	7	0.12766	T	0.61	.	3.674	0.08284	0.0:0.3786:0.2019:0.4195	.	10;10	Q13296-2;Q13296	.;SG2A2_HUMAN	V	10	.	ENSP00000227918:A10V	A	+	2	0	SCGB2A2	61794293	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	-0.815000	0.04481	-0.421000	0.07416	0.467000	0.42956	GCG		0.612	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394860.1	NM_002411		T	62037717	C	T	62037717	3	4	169	1	0	0	0	0	1	0	0	0	13903	768	27	1	31	1	SCGB2A2	11	62037717	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	2812424	62037717	72968799	110	9644											
C2CD3	26005	genome.wustl.edu	37	11	73843994	73843994	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:73843994C>G	ENST00000334126.7	-	7	1338	c.1112G>C	c.(1111-1113)cGg>cCg	p.R371P	C2CD3_ENST00000539061.1_Missense_Mutation_p.R371P|C2CD3_ENST00000313663.7_Missense_Mutation_p.R371P			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	371					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.R371P(1)|p.R371Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTCTTTAAACCGATTCCTAGA	0.388																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	11											171	155	160					11																	73843994		2200	4293	6493	73521642	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1112G>C	11.37:g.73843994C>G	ENSP00000334379:p.Arg371Pro		73521642	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.17|12.17	1.858920|1.858920	0.32884|0.32884	.|.	.|.	ENSG00000168014|ENSG00000168014	ENST00000289350|ENST00000334126;ENST00000313663;ENST00000313681;ENST00000539061	.|T;T	.|0.10099	.|2.91;2.91	5.2|5.2	-0.211|-0.211	0.13172|0.13172	.|.	.|1.109980	.|0.06889	.|N	.|0.803948	T|T	0.04048|0.04048	0.0113|0.0113	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.42865|0.42865	-0.9426|-0.9426	6|10	0.25751|0.34782	T|T	0.34|0.22	6.7573|6.7573	5.9902|5.9902	0.19456|0.19456	0.0:0.3639:0.2564:0.3797|0.0:0.3639:0.2564:0.3797	.|.	.|371;371	.|Q4AC94;Q4AC94-1	.|C2CD3_HUMAN;.	R|P	371|371	.|ENSP00000334379:R371P;ENSP00000323339:R371P	ENSP00000289350:G371R|ENSP00000323339:R371P	G|R	-|-	1|2	0|0	C2CD3|C2CD3	73521642|73521642	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.144000|0.144000	0.21451|0.21451	0.034000|0.034000	0.13776|0.13776	-0.270000|-0.270000	0.09285|0.09285	-0.254000|-0.254000	0.11334|0.11334	GGT|CGG		0.388	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		G	73843994	C	G	73843994	3	3	169	1	0	0	0	0	1	0	0	0	2154	652	23	3	4879	3	C2CD3	11	73843994	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	11806277	73843994	61162522	111	9645											
ODZ4	26011	genome.wustl.edu	37	11	78387369	78387369	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:78387369C>T	ENST00000278550.7	-	30	5786	c.5324G>A	c.(5323-5325)gGc>gAc	p.G1775D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1775					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.G1775D(1)									CACCTCCATGCCGTTGGCCAG	0.627																																																1	Substitution - Missense(1)	ovary(1)	11											28	35	33					11																	78387369		2149	4243	6392	78065017	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5324G>A	11.37:g.78387369C>T	ENSP00000278550:p.Gly1775Asp		78065017	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935833	0.92458	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.91521	-2.86;0.35	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95541	0.8551	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95414	0.8501	9	.	.	.	.	18.2069	0.89858	0.0:1.0:0.0:0.0	.	1775	Q6N022	TEN4_HUMAN	D	1775;239	ENSP00000278550:G1775D;ENSP00000431711:G239D	.	G	-	2	0	ODZ4	78065017	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.593000	0.82686	2.584000	0.87258	0.650000	0.86243	GGC		0.627	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			T	78387369	C	T	78387369	3	4	169	1	0	0	0	0	1	0	0	0	10837	739	26	2	3005	2	ODZ4	11	78387369	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	4543375	78387369	56619147	112	9646											
FAT3	120114	genome.wustl.edu	37	11	92085950	92085950	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:92085950G>T	ENST00000298047.6	+	1	689	c.672G>T	c.(670-672)aaG>aaT	p.K224N	FAT3_ENST00000409404.2_Missense_Mutation_p.K224N|FAT3_ENST00000541502.1_Missense_Mutation_p.K224N|FAT3_ENST00000525166.1_Missense_Mutation_p.K74N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K224N(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGATGAAAAGAATAGGTATG	0.388										TCGA Ovarian(4;0.039)																																						2	Substitution - Missense(2)	large_intestine(2)	11											119	113	115					11																	92085950		1855	4102	5957	91725598	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.672G>T	11.37:g.92085950G>T	ENSP00000298047:p.Lys224Asn		91725598	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	13.01	2.109088	0.37242	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.15	4.23	0.50019	.	.	.	.	.	T	0.37598	0.1009	N	0.25890	0.77	0.27808	N	0.942236	P	0.44627	0.839	P	0.46543	0.52	T	0.15492	-1.0435	9	0.37606	T	0.19	.	5.4549	0.16584	0.1846:0.1671:0.6484:0.0	.	224	Q8TDW7-3	.	N	224;224;224;74	ENSP00000298047:K224N;ENSP00000387040:K224N;ENSP00000443786:K224N;ENSP00000432586:K74N	ENSP00000298047:K224N	K	+	3	2	FAT3	91725598	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.459000	0.35234	1.281000	0.44480	0.655000	0.94253	AAG		0.388	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92085950	G	T	92085950	3	4	169	1	0	0	0	0	1	0	0	0	5691	933	33	3	674	3	FAT3	11	92085950	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	13698581	92085950	42920566	113	9647											
CUL5	8065	genome.wustl.edu	37	11	107925383	107925383	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:107925383G>T	ENST00000393094.2	+	6	1179	c.563G>T	c.(562-564)tGt>tTt	p.C188F		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	188					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.C188F(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GTTAACCTTTGTTCTAATCCT	0.289																																																1	Substitution - Missense(1)	ovary(1)	11											33	37	35					11																	107925383		2189	4285	6474	107430593	SO:0001583	missense	8065			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.563G>T	11.37:g.107925383G>T	ENSP00000376808:p.Cys188Phe		107430593	A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	CCDS31668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.42|19.42	3.823913|3.823913	0.71143|0.71143	.|.	.|.	ENSG00000166266|ENSG00000166266	ENST00000393094|ENST00000532782	T|T	0.29917|0.43294	1.55|0.95	5.88|5.88	4.96|4.96	0.65561|0.65561	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.312664|.	0.42682|.	D|.	0.000668|.	T|T	0.60196|0.60196	0.2250|0.2250	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.63488|.	0.915|.	T|T	0.61836|0.61836	-0.6981|-0.6981	10|6	0.72032|.	D|.	0.01|.	-10.797|-10.797	16.3587|16.3587	0.83245|0.83245	0.0:0.0:0.8669:0.1331|0.0:0.0:0.8669:0.1331	.|.	188|.	Q93034|.	CUL5_HUMAN|.	F|F	188|84	ENSP00000376808:C188F|ENSP00000431221:L84F	ENSP00000376808:C188F|.	C|L	+|+	2|3	0|2	CUL5|CUL5	107430593|107430593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.827000|9.827000	0.99397|0.99397	1.462000|1.462000	0.47948|0.47948	0.655000|0.655000	0.94253|0.94253	TGT|TTG		0.289	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			T	107925383	G	T	107925383	3	4	169	1	0	0	0	0	1	0	0	0	4059	1377	48	3	585	3	CUL5	11	107925383	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	15839433	107925383	27081133	114	9648											
NNMT	4837	genome.wustl.edu	37	11	114167364	114167364	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:114167364C>G	ENST00000535401.1	+	3	350	c.86C>G	c.(85-87)tCt>tGt	p.S29C	NNMT_ENST00000545255.1_5'Flank|NNMT_ENST00000299964.3_Missense_Mutation_p.S29C|NNMT_ENST00000541754.1_5'Flank|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_5'Flank			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	29					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)	p.S29C(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	AAGTTTGGTTCTAGGCACTCT	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											90	86	87					11																	114167364		2201	4296	6497	113672574	SO:0001583	missense	4837			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.86C>G	11.37:g.114167364C>G	ENSP00000441434:p.Ser29Cys		113672574		Missense_Mutation	SNP	ENST00000535401.1	37	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522294	0.27211	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.04317	3.65;3.65	5.36	4.45	0.53987	.	0.493601	0.19741	N	0.107124	T	0.07999	0.0200	M	0.67397	2.05	0.80722	D	1	B	0.20550	0.046	B	0.11329	0.006	T	0.04593	-1.0940	10	0.54805	T	0.06	-1.1869	11.7574	0.51882	0.0:0.9135:0.0:0.0865	.	29	P40261	NNMT_HUMAN	C	29	ENSP00000441434:S29C;ENSP00000299964:S29C	ENSP00000299964:S29C	S	+	2	0	NNMT	113672574	0.034000	0.19679	0.882000	0.34594	0.239000	0.25481	1.838000	0.39211	1.267000	0.44247	0.591000	0.81541	TCT		0.413	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		G	114167364	C	G	114167364	3	3	169	1	0	0	0	0	1	0	0	0	10509	913	32	3	88	3	NNMT	11	114167364	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	6241981	114167364	20839152	115	9649											
JAM3	83700	genome.wustl.edu	37	11	133939045	133939045	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr11:133939045C>A	ENST00000299106.4	+	1	226	c.67C>A	c.(67-69)Ctt>Att	p.L23I	JAM3_ENST00000441717.3_Missense_Mutation_p.L23I|JAM3_ENST00000529443.2_Missense_Mutation_p.L68I			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	23					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)	p.L68I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CCTGCTGCTGCTTTTCAGGGG	0.692																																																1	Substitution - Missense(1)	ovary(1)	11											20	19	19					11																	133939045		2170	4239	6409	133444255	SO:0001583	missense	83700			AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.67C>A	11.37:g.133939045C>A	ENSP00000299106:p.Leu23Ile		133444255	B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	CCDS8494.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.13|12.13	1.845600|1.845600	0.32606|0.32606	.|.	.|.	ENSG00000166086|ENSG00000166086	ENST00000534549;ENST00000531698;ENST00000529443|ENST00000299106;ENST00000441717	T|T	0.73789|0.79247	-0.78|-1.25	5.2|5.2	4.18|4.18	0.49190|0.49190	.|Immunoglobulin-like (1);	.|3.389020	.|0.00649	.|N	.|0.000551	T|T	0.63885|0.63885	0.2549|0.2549	N|N	0.14661|0.14661	0.345|0.345	0.28465|0.28465	N|N	0.915692|0.915692	.|P;B	.|0.39424	.|0.673;0.427	.|B;B	.|0.35813	.|0.211;0.142	T|T	0.60500|0.60500	-0.7251|-0.7251	6|10	.|0.46703	.|T	.|0.11	.|.	5.7822|5.7822	0.18312|0.18312	0.0:0.8311:0.0:0.1689|0.0:0.8311:0.0:0.1689	.|.	.|23;23	.|B3KWG9;Q9BX67	.|.;JAM3_HUMAN	D|I	27|68;23	ENSP00000431883:A27D|ENSP00000395742:L23I	.|ENSP00000299106:L68I	A|L	+|+	2|1	0|0	JAM3|JAM3	133444255|133444255	0.751000|0.751000	0.28327|0.28327	0.860000|0.860000	0.33809|0.33809	0.470000|0.470000	0.32858|0.32858	0.393000|0.393000	0.20817|0.20817	2.403000|2.403000	0.81681|0.81681	0.508000|0.508000	0.49915|0.49915	GCT|CTT		0.692	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		A	133939045	C	A	133939045	3	1	169	1	0	0	0	0	1	0	0	0	7944	797	28	3	204	3	JAM3	11	133939045	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	19771681	133939045	1067471	116	9650											
ACSM4	341392	genome.wustl.edu	37	12	7456964	7456964	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:7456964A>T	ENST00000399422.4	+	1	85	c.37A>T	c.(37-39)Atc>Ttc	p.I13F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	13					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ATTTAGATTCATCTGGCTCAC	0.478																																																0			12											160	153	155					12																	7456964		1886	4117	6003	7348231	SO:0001583	missense	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.37A>T	12.37:g.7456964A>T	ENSP00000382349:p.Ile13Phe		7348231	A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366926	0.41902	.	.	ENSG00000215009	ENST00000399422	T	0.46063	0.88	4.42	-1.0	0.10196	.	.	.	.	.	T	0.19287	0.0463	N	0.08118	0	0.20307	N	0.999911	B	0.02656	0.0	B	0.04013	0.001	T	0.17715	-1.0360	9	0.52906	T	0.07	-13.2738	4.2111	0.10512	0.3851:0.3981:0.2168:0.0	.	13	P0C7M7	ACSM4_HUMAN	F	13	ENSP00000382349:I13F	ENSP00000382349:I13F	I	+	1	0	ACSM4	7348231	0.000000	0.05858	0.257000	0.24404	0.484000	0.33280	-0.697000	0.05098	0.019000	0.15079	0.533000	0.62120	ATC		0.478	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		T	7456964	A	T	7456964	3	4	169	1	0	0	0	0	1	0	0	0	186	217	8	5	39	5	ACSM4	12	7456964	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09		7456964	126394931	117	9651											
KIAA0528	9847	genome.wustl.edu	37	12	22622721	22622721	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:22622721C>G	ENST00000333957.4	-	22	2710	c.2455G>C	c.(2455-2457)Gat>Cat	p.D819H	C2CD5_ENST00000536386.1_Missense_Mutation_p.D821H|C2CD5_ENST00000545552.1_Missense_Mutation_p.D832H|C2CD5_ENST00000542676.1_Missense_Mutation_p.D819H|C2CD5_ENST00000396028.2_Missense_Mutation_p.D810H|C2CD5_ENST00000446597.1_Missense_Mutation_p.D819H|C2CD5_ENST00000544930.1_Missense_Mutation_p.D634H	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	819					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.D819H(1)									TCTTCATTATCTGTTGAGGCT	0.313																																																1	Substitution - Missense(1)	ovary(1)	12											84	86	85					12																	22622721		2203	4300	6503	22513988	SO:0001583	missense	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2455G>C	12.37:g.22622721C>G	ENSP00000334229:p.Asp819His		22513988	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.78|17.78	3.473837|3.473837	0.63737|0.63737	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.66099|.	-0.15;-0.18;-0.19;-0.18;-0.18;-0.12|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.060005|.	0.64402|.	D|.	0.000003|.	T|T	0.59810|0.59810	0.2221|0.2221	L|L	0.38175|0.38175	1.15|1.15	0.44619|0.44619	D|D	0.997597|0.997597	D;P;D;D;P|.	0.63880|.	0.973;0.802;0.987;0.993;0.761|.	P;P;D;P;B|.	0.64144|.	0.896;0.467;0.922;0.889;0.275|.	T|T	0.55114|0.55114	-0.8191|-0.8191	10|5	0.59425|.	D|.	0.04|.	-24.2712|-24.2712	17.1161|17.1161	0.86689|0.86689	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	821;819;634;810;819|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	H|H	819;819;821;810;819;832;634|102	ENSP00000334229:D819H;ENSP00000388756:D819H;ENSP00000439392:D821H;ENSP00000379345:D810H;ENSP00000441951:D819H;ENSP00000443204:D832H|.	ENSP00000334229:D819H|.	D|Q	-|-	1|3	0|2	KIAA0528|KIAA0528	22513988|22513988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.529000|3.529000	0.53532|0.53532	2.538000|2.538000	0.85594|0.85594	0.650000|0.650000	0.86243|0.86243	GAT|CAG		0.313	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		G	22622721	C	G	22622721	3	3	169	1	0	0	0	0	1	0	0	0	8182	913	32	3	563	3	KIAA0528	12	22622721	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	15165757	22622721	111229174	118	9652											
IFLTD1	160492	genome.wustl.edu	37	12	25679139	25679139	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:25679139G>A	ENST00000282881.6	-	5	778	c.629C>T	c.(628-630)gCa>gTa	p.A210V	IFLTD1_ENST00000445693.1_Missense_Mutation_p.A147V|IFLTD1_ENST00000413632.2_Intron|IFLTD1_ENST00000458174.2_Missense_Mutation_p.A231V|IFLTD1_ENST00000539744.1_Missense_Mutation_p.A113V	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		210	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)	p.A210V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGCTTCAGATGCTGCTGCCCA	0.388																																																1	Substitution - Missense(1)	ovary(1)	12											119	108	112					12																	25679139		2203	4300	6503	25570406	SO:0001583	missense	160492																														ENST00000282881.6:c.629C>T	12.37:g.25679139G>A	ENSP00000282881:p.Ala210Val		25570406	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622438	0.66787	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000545543	D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.86	5.29	4.38	0.52667	Intermediate filament, C-terminal (1);	.	.	.	.	D	0.98024	0.9349	L	0.51422	1.61	0.80722	D	1	D;D;D	0.76494	0.975;0.988;0.999	P;P;D	0.70935	0.741;0.796;0.971	D	0.97533	1.0081	8	.	.	.	-19.3654	11.0225	0.47726	0.0:0.0:0.8143:0.1857	.	147;231;210	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9	.;.;ILFT1_HUMAN	V	210;113;231;147;40	ENSP00000282881:A210V;ENSP00000443132:A113V;ENSP00000407353:A231V;ENSP00000407043:A147V;ENSP00000443596:A40V	.	A	-	2	0	IFLTD1	25570406	0.944000	0.32072	0.933000	0.37362	0.972000	0.66771	1.912000	0.39946	1.422000	0.47177	0.655000	0.94253	GCA		0.388	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			A	25679139	G	A	25679139	3	1	169	1	0	0	0	0	1	0	0	0	7530	1319	46	2	553	2	IFLTD1	12	25679139	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	3056418	25679139	108172756	119	9653											
SCN8A	6334	genome.wustl.edu	37	12	52115511	52115511	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:52115511G>A	ENST00000354534.6	+	12	1995	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	SCN8A_ENST00000545061.1_Missense_Mutation_p.R606Q|SCN8A_ENST00000550891.1_Missense_Mutation_p.R606Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	606					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.R606Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATCCCCATCCGGGCCCGCGAG	0.706																																																1	Substitution - Missense(1)	ovary(1)	12											7	12	11					12																	52115511		1968	4103	6071	50401778	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1817G>A	12.37:g.52115511G>A	ENSP00000346534:p.Arg606Gln		50401778	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341898	0.81911	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	3.83	3.83	0.44106	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.95847	0.8648	M	0.83118	2.625	0.58432	D	0.999996	P;D;D;P	0.71674	0.937;0.998;0.996;0.949	B;D;P;P	0.72982	0.329;0.979;0.644;0.459	D	0.95744	0.8786	10	0.45353	T	0.12	.	16.3045	0.82842	0.0:0.0:1.0:0.0	.	606;606;606;606	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	Q	606;606;606;606;519;404	ENSP00000448415:R606Q;ENSP00000346534:R606Q;ENSP00000440360:R606Q;ENSP00000347255:R606Q;ENSP00000447567:R404Q	ENSP00000346534:R606Q	R	+	2	0	SCN8A	50401778	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.747000	0.55134	2.136000	0.66102	0.467000	0.42956	CGG		0.706	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		A	52115511	G	A	52115511	3	1	169	1	0	0	0	0	1	0	0	0	13927	1116	39	1	1859	1	SCN8A	12	52115511	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	26436372	52115511	81736384	120	9654											
CAPS2	84698	genome.wustl.edu	37	12	75676116	75676116	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:75676116T>G	ENST00000409445.3	-	17	1780	c.1584A>C	c.(1582-1584)aaA>aaC	p.K528N	CAPS2_ENST00000393284.3_Missense_Mutation_p.K296N|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.K446N|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Missense_Mutation_p.K118N	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	528	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.K296N(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TGAAATCCAGTTTCATAAAGG	0.358																																																1	Substitution - Missense(1)	ovary(1)	12											88	93	91					12																	75676116		2203	4300	6503	73962383	SO:0001583	missense	84698			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1584A>C	12.37:g.75676116T>G	ENSP00000386959:p.Lys528Asn		73962383	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609789	0.66558	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.29917	1.67;1.55;1.63;1.72	5.95	4.78	0.61160	EF-hand-like domain (1);	0.202382	0.40640	N	0.001043	T	0.57666	0.2069	M	0.90705	3.14	0.50171	D	0.999856	B;P;D;D;P	0.76494	0.399;0.837;0.999;0.968;0.923	B;B;D;P;P	0.68039	0.206;0.373;0.955;0.823;0.786	T	0.62877	-0.6761	10	0.87932	D	0	-9.302	8.2909	0.31956	0.0:0.0682:0.1347:0.7971	.	118;296;264;528;446	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	N	446;528;264;296;118	ENSP00000386977:K446N;ENSP00000386959:K528N;ENSP00000376963:K296N;ENSP00000389633:K118N	ENSP00000367975:K264N	K	-	3	2	CAPS2	73962383	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	1.604000	0.36804	1.041000	0.40125	0.519000	0.50382	AAA		0.358	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			G	75676116	T	G	75676116	3	3	169	1	0	0	0	0	1	0	0	0	2638	1722	60	5	97	5	CAPS2	12	75676116	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	23560605	75676116	58175779	121	9655											
CSRP2	1466	genome.wustl.edu	37	12	77252746	77252746	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:77252746C>A	ENST00000311083.5	-	6	691	c.568G>T	c.(568-570)Gtt>Ttt	p.V190F	CSRP2_ENST00000552330.1_Missense_Mutation_p.V240F|CSRP2_ENST00000546966.1_Missense_Mutation_p.V190F	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	190					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V190F(1)		kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						TGGGCATGAACAAGAGCCCCT	0.433																																																1	Substitution - Missense(1)	ovary(1)	12											96	95	95					12																	77252746		2203	4300	6503	75776877	SO:0001583	missense	1466			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.568G>T	12.37:g.77252746C>A	ENSP00000310901:p.Val190Phe		75776877	Q93030	Missense_Mutation	SNP	ENST00000311083.5	37	CCDS9015.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456681	0.84317	.	.	ENSG00000175183	ENST00000311083;ENST00000552330;ENST00000546966	D;D;D	0.92397	-3.03;-3.03;-3.03	6.03	6.03	0.97812	.	0.451193	0.23591	N	0.046542	D	0.89983	0.6873	L	0.38175	1.15	0.80722	D	1	P	0.45011	0.848	B	0.41723	0.365	D	0.90220	0.4271	10	0.59425	D	0.04	-21.8977	20.5666	0.99351	0.0:1.0:0.0:0.0	.	190	Q16527	CSRP2_HUMAN	F	190;240;190	ENSP00000310901:V190F;ENSP00000449824:V240F;ENSP00000450056:V190F	ENSP00000310901:V190F	V	-	1	0	CSRP2	75776877	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	4.554000	0.60760	2.854000	0.98071	0.655000	0.94253	GTT		0.433	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406572.1	NM_001321		A	77252746	C	A	77252746	3	1	169	1	0	0	0	0	1	0	0	0	3967	478	17	3	17	3	CSRP2	12	77252746	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	1576630	77252746	56599149	122	9656											
CEP290	80184	genome.wustl.edu	37	12	88465166	88465166	+	Silent	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:88465166A>G	ENST00000552810.1	-	43	6259	c.5916T>C	c.(5914-5916)gaT>gaC	p.D1972D	CEP290_ENST00000397838.3_Silent_p.D1032D|CEP290_ENST00000309041.7_Silent_p.D1974D|CEP290_ENST00000547691.2_Silent_p.D1032D	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1972					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.D1974D(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CCAAAACCTGATCAACAGTCA	0.323																																																1	Substitution - coding silent(1)	ovary(1)	12											141	126	131					12																	88465166		1812	4075	5887	86989297	SO:0001819	synonymous_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5916T>C	12.37:g.88465166A>G			86989297	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	CCDS55858.1																																																																																				0.323	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		G	88465166	A	G	88465166	2	3	169	1	0	0	0	0	0	0	0	1	3253	330	12	4		4	CEP290	12	88465166	Silent	SNP	A	TCGA-23-1022-01A-02W-0488-09	11212420	88465166	45386729	123	9657											
PLXNC1	10154	genome.wustl.edu	37	12	94575306	94575306	+	Missense_Mutation	SNP	G	G	A	rs533262461		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:94575306G>A	ENST00000258526.4	+	3	1537	c.1288G>A	c.(1288-1290)Gtt>Att	p.V430I	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	430	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.V430I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTACAAACTCGTTCCTGATCC	0.313																																																1	Substitution - Missense(1)	ovary(1)	12											97	108	105					12																	94575306		2203	4300	6503	93099437	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1288G>A	12.37:g.94575306G>A	ENSP00000258526:p.Val430Ile		93099437	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046206	0.19748	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.04502	3.61;3.61	6.08	4.28	0.50868	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.698869	0.15271	N	0.271252	T	0.04543	0.0124	L	0.34521	1.04	0.80722	D	1	B	0.17268	0.021	B	0.04013	0.001	T	0.39121	-0.9629	10	0.19147	T	0.46	.	10.4697	0.44629	0.1516:0.0:0.8484:0.0	.	430	O60486	PLXC1_HUMAN	I	430;46	ENSP00000258526:V430I;ENSP00000447843:V46I	ENSP00000258526:V430I	V	+	1	0	PLXNC1	93099437	0.975000	0.34042	0.787000	0.31911	0.359000	0.29487	1.615000	0.36922	0.922000	0.37019	0.591000	0.81541	GTT		0.313	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			A	94575306	G	A	94575306	3	1	169	1	0	0	0	0	1	0	0	0	12126	1145	40	1	1298	1	PLXNC1	12	94575306	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	6110140	94575306	39276589	124	9658											
SCYL2	55681	genome.wustl.edu	37	12	100708360	100708360	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:100708360G>A	ENST00000360820.2	+	8	1500	c.1063G>A	c.(1063-1065)Gga>Aga	p.G355R		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	355					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.G355R(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GTTTTTCAAAGGACTGCCAAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	12											66	66	66					12																	100708360		2203	4297	6500	99232491	SO:0001583	missense	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1063G>A	12.37:g.100708360G>A	ENSP00000354061:p.Gly355Arg		99232491	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349223	0.61183	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.32753	1.44;1.44	5.43	5.43	0.79202	Armadillo-like helical (1);Protein kinase-like domain (1);Armadillo-type fold (1);	0.097529	0.64402	D	0.000001	T	0.35770	0.0943	M	0.66939	2.045	0.80722	D	1	B	0.33477	0.413	B	0.29077	0.098	T	0.17684	-1.0361	10	0.45353	T	0.12	.	19.6166	0.95636	0.0:0.0:1.0:0.0	.	355	Q6P3W7	SCYL2_HUMAN	R	355;182;355	ENSP00000448366:G355R;ENSP00000354061:G355R	ENSP00000258506:G182R	G	+	1	0	SCYL2	99232491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.701000	0.84566	2.721000	0.93114	0.655000	0.94253	GGA		0.313	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		A	100708360	G	A	100708360	3	1	169	1	0	0	0	0	1	0	0	0	13951	1001	35	2	1089	2	SCYL2	12	100708360	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	6133054	100708360	33143535	125	9659											
STAB2	55576	genome.wustl.edu	37	12	104054121	104054121	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:104054121C>T	ENST00000388887.2	+	16	1951	c.1747C>T	c.(1747-1749)Ctt>Ttt	p.L583F	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.L583F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATCTCGGAAGCTTCTGGAACT	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											237	238	238					12																	104054121		2203	4300	6503	102578251	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1747C>T	12.37:g.104054121C>T	ENSP00000373539:p.Leu583Phe		102578251		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626284	0.87560	.	.	ENSG00000136011	ENST00000388887	D	0.93712	-3.27	5.99	5.99	0.97316	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	M	0.90759	3.145	0.49389	D	0.999787	D	0.89917	1.0	D	0.97110	1.0	D	0.97636	1.0145	10	0.72032	D	0.01	.	19.2492	0.93917	0.0:1.0:0.0:0.0	.	583	Q8WWQ8	STAB2_HUMAN	F	583	ENSP00000373539:L583F	ENSP00000373539:L583F	L	+	1	0	STAB2	102578251	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.386000	0.59620	2.840000	0.97914	0.655000	0.94253	CTT		0.438	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104054121	C	T	104054121	3	4	169	1	0	0	0	0	1	0	0	0	15240	797	28	2	1809	2	STAB2	12	104054121	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	3345761	104054121	29797774	126	9660											
TDG	6996	genome.wustl.edu	37	12	104376702	104376702	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:104376702G>T	ENST00000392872.3	+	5	838	c.604G>T	c.(604-606)Gat>Tat	p.D202Y	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.K25N|TDG_ENST00000544861.1_Missense_Mutation_p.D59Y|TDG_ENST00000266775.9_Missense_Mutation_p.D198Y	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	202					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.D202Y(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CGGCAGCAAAGATCTCTCCAG	0.453								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	ovary(1)	12											80	77	78					12																	104376702		2203	4300	6503	102900832	SO:0001583	missense	6996			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.604G>T	12.37:g.104376702G>T	ENSP00000376611:p.Asp202Tyr		102900832	Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	CCDS9095.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.64|18.64	3.667285|3.667285	0.67814|0.67814	.|.	.|.	ENSG00000139372|ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100|ENST00000542036	T;T;T;T|T	0.49139|0.22539	0.79;0.79;0.79;0.79|1.95	5.4|5.4	5.4|5.4	0.78164|0.78164	Uracil-DNA glycosylase-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.36991|0.36991	0.0987|0.0987	M|M	0.89095|0.89095	3.005|3.005	0.38388|0.38388	D|D	0.945323|0.945323	D;D|B	0.89917|0.18741	1.0;1.0|0.03	D;D|B	0.91635|0.12837	0.999;0.994|0.008	T|T	0.44620|0.44620	-0.9316|-0.9316	10|9	0.87932|0.87932	D|D	0|0	-33.6241|-33.6241	19.1762|19.1762	0.93603|0.93603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	202;202|25	B2R848;Q13569|B4DI29	.;TDG_HUMAN|.	Y|N	202;198;59;195|25	ENSP00000376611:D202Y;ENSP00000266775:D198Y;ENSP00000445899:D59Y;ENSP00000439825:D195Y|ENSP00000439054:K25N	ENSP00000266775:D198Y|ENSP00000439054:K25N	D|K	+|+	1|3	0|2	TDG|TDG	102900832|102900832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.724000|0.724000	0.41520|0.41520	9.796000|9.796000	0.99103|0.99103	2.518000|2.518000	0.84900|0.84900	0.563000|0.563000	0.77884|0.77884	GAT|AAG		0.453	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			T	104376702	G	T	104376702	3	4	169	1	0	0	0	0	1	0	0	0	15725	942	33	3	622	3	TDG	12	104376702	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	322581	104376702	29475193	127	9661											
C12orf51	283450	genome.wustl.edu	37	12	112610483	112610483	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:112610483C>T	ENST00000430131.2	-	66	11656	c.10511G>A	c.(10510-10512)tGt>tAt	p.C3504Y	HECTD4_ENST00000377560.5_Missense_Mutation_p.C3754Y|HECTD4_ENST00000550722.1_Missense_Mutation_p.C3780Y			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3504					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.C3504Y(1)									ACTCAGGAGACAGGCCACTCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											53	63	60					12																	112610483		2134	4244	6378	111094866	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10511G>A	12.37:g.112610483C>T	ENSP00000404379:p.Cys3504Tyr		111094866	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	32	5.182680	0.94885	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.46451	0.87;0.87;0.87	5.75	5.75	0.90469	.	.	.	.	.	T	0.38692	0.1050	N	0.24115	0.695	0.58432	D	0.999999	P	0.50943	0.94	P	0.44732	0.459	T	0.32851	-0.9891	9	0.72032	D	0.01	.	19.9421	0.97168	0.0:1.0:0.0:0.0	.	3504	Q9Y4D8	K0614_HUMAN	Y	3754;3504;3780	ENSP00000366783:C3754Y;ENSP00000404379:C3504Y;ENSP00000449784:C3780Y	ENSP00000366783:C3754Y	C	-	2	0	C12orf51	111094866	1.000000	0.71417	0.992000	0.48379	0.924000	0.55760	7.456000	0.80751	2.714000	0.92807	0.561000	0.74099	TGT		0.612	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112610483	C	T	112610483	3	4	169	1	0	0	0	0	1	0	0	0	1696	478	17	2	1519	2	C12orf51	12	112610483	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	8233781	112610483	21241412	128	9662											
GPR133	283383	genome.wustl.edu	37	12	131451011	131451011	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr12:131451011T>A	ENST00000261654.5	+	3	666	c.107T>A	c.(106-108)tTt>tAt	p.F36Y	GPR133_ENST00000535015.1_Missense_Mutation_p.F36Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	36					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F36Y(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCCAAGGATTTCAGGTGTTG	0.453																																																1	Substitution - Missense(1)	ovary(1)	12											69	72	71					12																	131451011		2203	4300	6503	130016964	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.107T>A	12.37:g.131451011T>A	ENSP00000261654:p.Phe36Tyr		130016964	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.158910	0.57368	.	.	ENSG00000111452	ENST00000261654;ENST00000543826;ENST00000542091;ENST00000535015	T;T	0.53423	0.82;0.62	5.03	5.03	0.67393	.	0.149224	0.46442	D	0.000292	T	0.54983	0.1892	M	0.68952	2.095	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.49922	0.626;0.626	T	0.61505	-0.7049	10	0.72032	D	0.01	.	12.7929	0.57545	0.0:0.0:0.0:1.0	.	36;36	B7ZLF7;Q6QNK2	.;GP133_HUMAN	Y	36	ENSP00000261654:F36Y;ENSP00000444425:F36Y	ENSP00000261654:F36Y	F	+	2	0	GPR133	130016964	1.000000	0.71417	0.812000	0.32479	0.005000	0.04900	6.329000	0.72920	2.001000	0.58596	0.533000	0.62120	TTT		0.453	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131451011	T	A	131451011	3	1	169	1	0	0	0	0	1	0	0	0	6643	1841	64	5	117	5	GPR133	12	131451011	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	18840528	131451011	2400884	129	9663											
SACS	26278	genome.wustl.edu	37	13	23913870	23913870	+	Missense_Mutation	SNP	T	T	C	rs550057119		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr13:23913870T>C	ENST00000382292.3	-	9	4418	c.4145A>G	c.(4144-4146)cAt>cGt	p.H1382R	SACS_ENST00000382298.3_Missense_Mutation_p.H1382R|SACS_ENST00000402364.1_Missense_Mutation_p.H632R			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1382					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.H1235R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTGCTATGATGTATAGGAAC	0.348													T|||	1	0.000199681	0	0	5008	,	,		22108	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	13											180	174	176					13																	23913870		2203	4300	6503	22811870	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4145A>G	13.37:g.23913870T>C	ENSP00000371729:p.His1382Arg		22811870	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	10.34	1.323769	0.24080	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93307	-3.2;-3.2;-3.2	6.06	6.06	0.98353	.	0.291907	0.39407	N	0.001366	D	0.87229	0.6125	N	0.14661	0.345	0.26146	N	0.980205	B	0.13145	0.007	B	0.15052	0.012	T	0.73933	-0.3826	10	0.25106	T	0.35	.	16.6127	0.84892	0.0:0.0:0.0:1.0	.	1382	Q9NZJ4	SACS_HUMAN	R	1382;632;1382	ENSP00000371729:H1382R;ENSP00000385844:H632R;ENSP00000371735:H1382R	ENSP00000371729:H1382R	H	-	2	0	SACS	22811870	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.134000	0.71689	2.322000	0.78497	0.528000	0.53228	CAT		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23913870	T	C	23913870	3	2	169	1	0	0	0	0	1	0	0	0	13807	1464	51	4	9598	4	SACS	13	23913870	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09		23913870	91256008	130	9664											
FREM2	341640	genome.wustl.edu	37	13	39358814	39358814	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr13:39358814T>C	ENST00000280481.7	+	6	6104	c.5888T>C	c.(5887-5889)aTa>aCa	p.I1963T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1963	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I1963T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGTGTCGGATAGTCATAATT	0.502																																																1	Substitution - Missense(1)	ovary(1)	13											147	131	136					13																	39358814		2203	4300	6503	38256814	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5888T>C	13.37:g.39358814T>C	ENSP00000280481:p.Ile1963Thr		38256814	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592274	0.46214	.	.	ENSG00000150893	ENST00000280481	T	0.36878	1.23	5.96	5.96	0.96718	Na-Ca exchanger/integrin-beta4 (2);	0.382193	0.26258	N	0.025419	T	0.60183	0.2249	M	0.89715	3.055	0.30691	N	0.751359	B;P	0.38148	0.374;0.62	B;P	0.47705	0.22;0.555	T	0.69658	-0.5086	10	0.87932	D	0	.	16.4293	0.83835	0.0:0.0:0.0:1.0	.	1963;1963	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	T	1963	ENSP00000280481:I1963T	ENSP00000280481:I1963T	I	+	2	0	FREM2	38256814	0.982000	0.34865	0.007000	0.13788	0.034000	0.12701	7.950000	0.87804	2.271000	0.75665	0.528000	0.53228	ATA		0.502	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39358814	T	C	39358814	3	2	169	1	0	0	0	0	1	0	0	0	6045	1406	49	4	5910	4	FREM2	13	39358814	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	15444944	39358814	75811064	131	9665											
OR4N2	390429	genome.wustl.edu	37	14	20296515	20296515	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr14:20296515A>T	ENST00000315947.1	+	1	908	c.908A>T	c.(907-909)aAt>aTt	p.N303I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N303I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGGTGTTTAATAAGCACATA	0.343																																																1	Substitution - Missense(1)	ovary(1)	14											26	28	27					14																	20296515		2190	4245	6435	19366355	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.908A>T	14.37:g.20296515A>T	ENSP00000319601:p.Asn303Ile		19366355	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	8.484	0.860556	0.17178	.	.	ENSG00000176294	ENST00000315947	T	0.36699	1.24	4.57	-6.42	0.01932	.	0.808003	0.10618	N	0.653687	T	0.14700	0.0355	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17992	-1.0351	10	0.33141	T	0.24	.	0.583	0.00715	0.2986:0.1131:0.2385:0.3497	.	303	Q8NGD1	OR4N2_HUMAN	I	303	ENSP00000319601:N303I	ENSP00000319601:N303I	N	+	2	0	OR4N2	19366355	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.069000	0.14552	-1.060000	0.03189	0.482000	0.46254	AAT		0.343	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			T	20296515	A	T	20296515	3	4	169	1	0	0	0	0	1	0	0	0	11077	101	4	5	910	5	OR4N2	14	20296515	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09		20296515	87053025	132	9666											
HEATR5A	25938	genome.wustl.edu	37	14	31856365	31856365	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr14:31856365C>G	ENST00000389961.3	-	7	1131	c.1132G>C	c.(1132-1134)Gat>Cat	p.D378H	HEATR5A_ENST00000404677.3_Missense_Mutation_p.D384H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.D91H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.D378H|HEATR5A_ENST00000543095.2_Missense_Mutation_p.D384H			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	378								p.D378H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGGCAAATATCCTTTACAGCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	14											133	125	128					14																	31856365		1872	4113	5985	30926116	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1132G>C	14.37:g.31856365C>G	ENSP00000374611:p.Asp378His		30926116	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.78|15.78|15.78	2.935888|2.935888|2.935888	0.52972|0.52972|0.52972	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366|ENST00000538864	T;T;T;T;T|.|.	0.08102|.|.	3.13;3.13;3.13;3.13;3.13|.|.	5.35|5.35|5.35	5.35|5.35|5.35	0.76521|0.76521|0.76521	.|.|.	0.354964|.|.	0.31358|.|.	N|.|.	0.007792|.|.	T|T|T	0.66839|0.66839|0.66839	0.2830|0.2830|0.2830	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.49299|0.49299|0.49299	D|D|D	0.999775|0.999775|0.999775	P|.|.	0.37708|.|.	0.606|.|.	P|.|.	0.47528|.|.	0.549|.|.	T|T|T	0.62378|0.62378|0.62378	-0.6867|-0.6867|-0.6867	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.0578|19.0578|19.0578	0.93072|0.93072|0.93072	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	384|.|.	B5MC49|.|.	.|.|.	H|A|S	378;378;91;384;384|42|11	ENSP00000374611:D378H;ENSP00000405407:D378H;ENSP00000408681:D91H;ENSP00000437968:D384H;ENSP00000384646:D384H|.|.	ENSP00000374611:D378H|.|.	D|G|R	-|-|-	1|2|3	0|0|2	HEATR5A|HEATR5A|HEATR5A	30926116|30926116|30926116	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.869000|0.869000|0.869000	0.49853|0.49853|0.49853	4.805000|4.805000|4.805000	0.62561|0.62561|0.62561	2.496000|2.496000|2.496000	0.84212|0.84212|0.84212	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GAT|GGA|AGG		0.428	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		G	31856365	C	G	31856365	3	3	169	1	0	0	0	0	1	0	0	0	7031	855	30	3	5106	3	HEATR5A	14	31856365	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	11559850	31856365	75493175	133	9667											
AKAP6	9472	genome.wustl.edu	37	14	33293555	33293555	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr14:33293555C>G	ENST00000280979.4	+	13	6706	c.6536C>G	c.(6535-6537)tCt>tGt	p.S2179C	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2179					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S2179C(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCAAATGAATCTGCAGTTCCC	0.453																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - Missense(1)	ovary(1)	14											92	80	84					14																	33293555		2203	4300	6503	32363306	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6536C>G	14.37:g.33293555C>G	ENSP00000280979:p.Ser2179Cys		32363306	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683267	0.68157	.	.	ENSG00000151320	ENST00000280979	T	0.05513	3.43	5.93	5.93	0.95920	.	0.615681	0.16383	N	0.216839	T	0.07458	0.0188	L	0.29908	0.895	0.53688	D	0.999975	P	0.38642	0.641	B	0.36959	0.237	T	0.25572	-1.0128	10	0.66056	D	0.02	-1.7001	15.8897	0.79286	0.1359:0.8641:0.0:0.0	.	2179	Q13023	AKAP6_HUMAN	C	2179	ENSP00000280979:S2179C	ENSP00000280979:S2179C	S	+	2	0	AKAP6	32363306	0.000000	0.05858	0.149000	0.22428	0.736000	0.42039	0.653000	0.24902	2.805000	0.96524	0.655000	0.94253	TCT		0.453	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		G	33293555	C	G	33293555	3	3	169	1	0	0	0	0	1	0	0	0	455	913	32	3	6582	3	AKAP6	14	33293555	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	1437190	33293555	74055985	134	9668											
CCDC88C	440193	genome.wustl.edu	37	14	91772241	91772241	+	Silent	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr14:91772241C>G	ENST00000389857.6	-	19	3311	c.3225G>C	c.(3223-3225)ctG>ctC	p.L1075L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1075					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.L1075L(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTTCCTTTAGCAGCTGCTTCT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	14											78	77	77					14																	91772241		2052	4191	6243	90841994	SO:0001819	synonymous_variant	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3225G>C	14.37:g.91772241C>G			90841994	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																				0.537	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		G	91772241	C	G	91772241	2	3	169	1	0	0	0	0	0	0	0	1	2865	697	25	3		3	CCDC88C	14	91772241	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	58478686	91772241	15577299	135	9669											
FSIP1	161835	genome.wustl.edu	37	15	40056114	40056114	+	Splice_Site	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr15:40056114G>T	ENST00000350221.3	-	5	676	c.467C>A	c.(466-468)tCt>tAt	p.S156Y		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	156								p.S156Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATATTTTGCAGACTAATGAAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	15											43	48	47					15																	40056114		2192	4290	6482	37843406	SO:0001630	splice_region_variant	161835			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.466-1C>A	15.37:g.40056114G>T			37843406	Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.620080	0.28801	.	.	ENSG00000150667	ENST00000350221	T	0.25579	1.79	5.87	2.93	0.34026	.	0.439784	0.21582	N	0.072229	T	0.31199	0.0789	M	0.63428	1.95	0.30869	N	0.732699	P	0.49358	0.923	P	0.51055	0.657	T	0.28106	-1.0054	9	.	.	.	-1.4837	4.5517	0.12116	0.2675:0.16:0.5725:0.0	.	156	Q8NA03	FSIP1_HUMAN	Y	156	ENSP00000280236:S156Y	.	S	-	2	0	FSIP1	37843406	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	0.581000	0.23819	0.779000	0.33543	0.650000	0.86243	TCT		0.323	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597	Missense_Mutation	T	40056114	G	T	40056114	5	4	169	1	0	0	0	0	0	0	1	0	6074	956	33	3	1310	3	FSIP1	15	40056114	Splice_Site	SNP	G	TCGA-23-1022-01A-02W-0488-09		40056114	62475278	136	9670											
GLDN	342035	genome.wustl.edu	37	15	51687159	51687159	+	Silent	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr15:51687159C>T	ENST00000335449.6	+	5	725	c.669C>T	c.(667-669)tcC>tcT	p.S223S	GLDN_ENST00000396399.2_Silent_p.S99S	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	223					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S223S(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GAGATGTGTCCAACGACGTGC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	15											117	101	106					15																	51687159		2196	4293	6489	49474451	SO:0001819	synonymous_variant	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.669C>T	15.37:g.51687159C>T			49474451	Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	CCDS10140.2																																																																																				0.592	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		T	51687159	C	T	51687159	2	4	169	1	0	0	0	0	0	0	0	1	6434	581	21	2		2	GLDN	15	51687159	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	11631045	51687159	50844233	137	9671											
RNF111	54778	genome.wustl.edu	37	15	59384740	59384740	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr15:59384740A>T	ENST00000557998.1	+	13	3055	c.2768A>T	c.(2767-2769)aAa>aTa	p.K923I	RNF111_ENST00000348370.4_Missense_Mutation_p.K915I|RNF111_ENST00000561186.1_Missense_Mutation_p.K932I|RNF111_ENST00000434298.1_Missense_Mutation_p.K932I|RNF111_ENST00000559209.1_Missense_Mutation_p.K924I	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	923					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K915I(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCACAGAGGAAACTGCACTGC	0.368																																					NSCLC(72;983 1365 10746 34387 47081)											1	Substitution - Missense(1)	ovary(1)	15											96	92	94					15																	59384740		2192	4291	6483	57172032	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2768A>T	15.37:g.59384740A>T	ENSP00000452732:p.Lys923Ile		57172032	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479006	0.84747	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17370	2.29;2.28	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.34521	1.04	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.672	D;D;P	0.91635	0.999;0.997;0.651	T	0.03969	-1.0988	10	0.59425	D	0.04	-20.4849	15.5098	0.75772	1.0:0.0:0.0:0.0	.	932;923;915	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	I	915;932	ENSP00000288199:K915I;ENSP00000393641:K932I	ENSP00000288199:K915I	K	+	2	0	RNF111	57172032	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.730000	0.91510	2.075000	0.62263	0.254000	0.18369	AAA		0.368	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		T	59384740	A	T	59384740	3	4	169	1	0	0	0	0	1	0	0	0	13428	14	1	5	2790	5	RNF111	15	59384740	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	7697581	59384740	43146652	138	9672											
TRIP4	9325	genome.wustl.edu	37	15	64690018	64690018	+	Splice_Site	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr15:64690018G>T	ENST00000261884.3	+	4	678		c.e4+1		TRIP4_ENST00000559565.1_Splice_Site|RN7SL595P_ENST00000582065.1_RNA	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGGCACTCTGGTAAATTATTT	0.398																																																1	Unknown(1)	ovary(1)	15											74	72	73					15																	64690018		2203	4300	6503	62477071	SO:0001630	splice_region_variant	56238			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"-"	12310	protein-coding gene	gene with protein product	"zinc finger, C2HC5-type"	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.618+1G>T	15.37:g.64690018G>T			62477071	B2RAS0|Q96ED7|Q9UKH0	Splice_Site	SNP	ENST00000261884.3	37	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187231	0.78789	.	.	ENSG00000103671	ENST00000261884	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4354	0.90643	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIP4	62477071	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.386000	0.97228	2.415000	0.81967	0.563000	0.77884	.		0.398	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213	Intron	T	64690018	G	T	64690018	5	4	169	1	0	0	0	0	0	0	1	0	16558	1275	44	3	633	3	TRIP4	15	64690018	Splice_Site	SNP	G	TCGA-23-1022-01A-02W-0488-09	5305278	64690018	37841374	139	9673											
PIAS1	8554	genome.wustl.edu	37	15	68434291	68434291	+	Silent	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr15:68434291C>T	ENST00000249636.6	+	3	625	c.477C>T	c.(475-477)gaC>gaT	p.D159D	PIAS1_ENST00000545237.1_Silent_p.D161D	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	159	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D159D(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TAGCATCAGACAACAGTCAGC	0.353																																																1	Substitution - coding silent(1)	ovary(1)	15											61	57	58					15																	68434291		1867	4116	5983	66221345	SO:0001819	synonymous_variant	8554			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.477C>T	15.37:g.68434291C>T			66221345	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Silent	SNP	ENST00000249636.6	37	CCDS45290.1																																																																																				0.353	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			T	68434291	C	T	68434291	2	4	169	1	0	0	0	0	0	0	0	1	11875	477	17	2		2	PIAS1	15	68434291	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	3744273	68434291	34097101	140	9674											
HEXA	3073	genome.wustl.edu	37	15	72638893	72638893	+	Silent	SNP	G	G	A	rs587779406		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr15:72638893G>A	ENST00000268097.5	-	11	1808	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	HEXA_ENST00000567159.1_Silent_p.Y435Y|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Silent_p.Y446Y|HEXA_ENST00000429918.2_Silent_p.Y262Y|HEXA_ENST00000457859.2_Intron|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	435					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.Y435Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GTTCCACTATGTAGAAATCCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	15											101	109	107					15																	72638893		2199	4297	6496	70425947	SO:0001819	synonymous_variant	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1305C>T	15.37:g.72638893G>A			70425947	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Silent	SNP	ENST00000268097.5	37	CCDS10243.1																																																																																				0.572	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		A	72638893	G	A	72638893	2	1	169	1	0	0	0	0	0	0	0	1	7073	1372	48	2		2	HEXA	15	72638893	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	4204602	72638893	29892499	141	9675											
HCN4	10021	genome.wustl.edu	37	15	73635973	73635973	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr15:73635973T>A	ENST00000261917.3	-	2	1955	c.962A>T	c.(961-963)gAg>gTg	p.E321V	RP11-272D12.1_ENST00000557981.1_RNA|RP11-272D12.1_ENST00000558742.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	321					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.E321V(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTGTTGTCCTCCACCACGAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	15											98	80	87					15																	73635973		2198	4297	6495	71423026	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.962A>T	15.37:g.73635973T>A	ENSP00000261917:p.Glu321Val		71423026	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949961	0.73787	.	.	ENSG00000138622	ENST00000261917	D	0.94793	-3.52	5.34	5.34	0.76211	Ion transport (1);	.	.	.	.	D	0.96741	0.8936	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96747	0.9551	9	0.49607	T	0.09	.	15.6106	0.76713	0.0:0.0:0.0:1.0	.	321	Q9Y3Q4	HCN4_HUMAN	V	321	ENSP00000261917:E321V	ENSP00000261917:E321V	E	-	2	0	HCN4	71423026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.889000	0.87307	2.147000	0.66899	0.533000	0.62120	GAG		0.493	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		A	73635973	T	A	73635973	3	1	169	1	0	0	0	0	1	0	0	0	6999	1551	54	5	2677	5	HCN4	15	73635973	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	997080	73635973	28895419	142	9676											
ALPK3	57538	genome.wustl.edu	37	15	85400841	85400841	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr15:85400841G>C	ENST00000258888.5	+	6	3645	c.3478G>C	c.(3478-3480)Gat>Cat	p.D1160H		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1160					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D1160H(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGCCTCATAGATTCCCTGAA	0.637																																																1	Substitution - Missense(1)	ovary(1)	15											44	50	48					15																	85400841		2203	4299	6502	83201845	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3478G>C	15.37:g.85400841G>C	ENSP00000258888:p.Asp1160His		83201845	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832089	0.71258	.	.	ENSG00000136383	ENST00000258888	T	0.66460	-0.21	5.17	5.17	0.71159	.	0.692719	0.13759	N	0.364684	T	0.74558	0.3732	L	0.32530	0.975	0.38348	D	0.944241	D	0.89917	1.0	D	0.85130	0.997	T	0.76812	-0.2821	10	0.87932	D	0	-18.2419	14.1715	0.65512	0.0:0.0:1.0:0.0	.	1160	Q96L96	ALPK3_HUMAN	H	1160	ENSP00000258888:D1160H	ENSP00000258888:D1160H	D	+	1	0	ALPK3	83201845	0.998000	0.40836	0.970000	0.41538	0.973000	0.67179	3.502000	0.53332	2.417000	0.82017	0.563000	0.77884	GAT		0.637	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		C	85400841	G	C	85400841	3	2	169	1	0	0	0	0	1	0	0	0	546	942	33	3	3500	3	ALPK3	15	85400841	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	11764868	85400841	17130551	143	9677											
UMOD	7369	genome.wustl.edu	37	16	20348686	20348686	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr16:20348686G>C	ENST00000570689.1	-	8	1813	c.1667C>G	c.(1666-1668)gCt>gGt	p.A556G	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.A589G|UMOD_ENST00000396142.2_Missense_Mutation_p.A556G|UMOD_ENST00000396138.4_Missense_Mutation_p.A605G|UMOD_ENST00000302509.4_Missense_Mutation_p.A556G|UMOD_ENST00000396134.2_Missense_Mutation_p.A589G			P07911	UROM_HUMAN	uromodulin	556	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.A556G(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATAGTTTCCAGCAAACCGGAA	0.527																																																1	Substitution - Missense(1)	ovary(1)	16											108	105	106					16																	20348686		2203	4300	6503	20256187	SO:0001583	missense	7369			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1667C>G	16.37:g.20348686G>C	ENSP00000460548:p.Ala556Gly		20256187	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075324	0.76415	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.62	5.62	0.85841	Zona pellucida sperm-binding protein (3);	0.126915	0.36101	N	0.002787	D	0.90731	0.7091	M	0.89214	3.015	0.36588	D	0.873919	P;P	0.49862	0.896;0.929	P;P	0.61477	0.649;0.889	D	0.93629	0.6954	10	0.87932	D	0	-7.6534	10.568	0.45184	0.0869:0.0:0.9131:0.0	.	589;556	E9PEA4;P07911	.;UROM_HUMAN	G	556;589;589;556;534;556	ENSP00000379438:A589G;ENSP00000416346:A589G;ENSP00000306279:A556G;ENSP00000379446:A556G	ENSP00000306279:A556G	A	-	2	0	UMOD	20256187	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	2.959000	0.49153	2.614000	0.88457	0.655000	0.94253	GCT		0.527	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			C	20348686	G	C	20348686	3	2	169	1	0	0	0	0	1	0	0	0	16979	971	34	3	271	3	UMOD	16	20348686	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09		20348686	70006067	144	9678											
XPO6	23214	genome.wustl.edu	37	16	28192352	28192352	+	Splice_Site	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr16:28192352C>G	ENST00000304658.5	-	2	504	c.4G>C	c.(4-6)Gca>Cca	p.A2P	Y_RNA_ENST00000363268.1_RNA|SNORA25_ENST00000363782.1_RNA|XPO6_ENST00000565698.1_5'UTR	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	2					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCTTCAGATGCCTAACAAAGG	0.388																																																0			16											64	55	58					16																	28192352		1819	4083	5902	28099853	SO:0001630	splice_region_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.4-1G>C	16.37:g.28192352C>G			28099853	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041894	0.93685	.	.	ENSG00000169180	ENST00000304658	T	0.58358	0.34	6.04	6.04	0.98038	Armadillo-type fold (1);	0.052497	0.85682	D	0.000000	T	0.57051	0.2027	L	0.29908	0.895	0.58432	D	0.999996	D;P	0.58620	0.983;0.952	P;P	0.56474	0.799;0.601	T	0.49762	-0.8905	10	0.32370	T	0.25	-9.3211	18.073	0.89417	0.0:1.0:0.0:0.0	.	2;2	B7ZM10;Q96QU8	.;XPO6_HUMAN	P	2	ENSP00000302790:A2P	ENSP00000302790:A2P	A	-	1	0	XPO6	28099853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.429000	0.59901	2.873000	0.98535	0.561000	0.74099	GCA		0.388	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195	Missense_Mutation	G	28192352	C	G	28192352	5	3	169	1	0	0	0	0	0	0	1	0	17448	753	26	3	3465	3	XPO6	16	28192352	Splice_Site	SNP	C	TCGA-23-1022-01A-02W-0488-09	7843666	28192352	62162401	145	9679											
DOC2A	8448	genome.wustl.edu	37	16	30021350	30021350	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr16:30021350G>A	ENST00000350119.4	-	2	384	c.194C>T	c.(193-195)gCa>gTa	p.A65V	DOC2A_ENST00000564944.1_Missense_Mutation_p.A65V|DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564979.1_Missense_Mutation_p.A65V	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	65	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.A65V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						AAGGAGGGCTGCAGGGGGGGC	0.701																																																1	Substitution - Missense(1)	ovary(1)	16											19	20	20					16																	30021350		2180	4250	6430	29928851	SO:0001583	missense	8448			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.194C>T	16.37:g.30021350G>A	ENSP00000340017:p.Ala65Val		29928851	B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	37	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919371	0.33908	.	.	ENSG00000149927	ENST00000350119	T	0.61980	0.06	3.98	-0.219	0.13135	.	0.205957	0.23983	N	0.042660	T	0.44540	0.1298	L	0.36672	1.1	0.09310	N	1	B	0.19706	0.038	B	0.16722	0.016	T	0.22312	-1.0220	10	0.27785	T	0.31	.	7.1527	0.25620	0.5307:0.0:0.4693:0.0	.	65	Q14183	DOC2A_HUMAN	V	65	ENSP00000340017:A65V	ENSP00000340017:A65V	A	-	2	0	DOC2A	29928851	0.005000	0.15991	0.066000	0.19879	0.944000	0.59088	0.498000	0.22530	-0.188000	0.10499	-0.258000	0.10820	GCA		0.701	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		A	30021350	G	A	30021350	3	1	169	1	0	0	0	0	1	0	0	0	4683	1319	46	2	1048	2	DOC2A	16	30021350	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	1828998	30021350	60333403	146	9680											
HYDIN	54768	genome.wustl.edu	37	16	70977797	70977797	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr16:70977797G>C	ENST00000393567.2	-	42	6737	c.6587C>G	c.(6586-6588)cCc>cGc	p.P2196R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2196					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.P2147R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCGACACTGGGACTAACACT	0.602																																																1	Substitution - Missense(1)	ovary(1)	16											34	36	35					16																	70977797		2020	4181	6201	69535298	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6587C>G	16.37:g.70977797G>C	ENSP00000377197:p.Pro2196Arg		69535298	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	5.159	0.214865	0.09810	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00824	5.65	5.14	2.04	0.26737	.	0.584174	0.12357	U	0.476014	T	0.00845	0.0028	N	0.25647	0.755	0.34811	D	0.737708	B	0.22346	0.068	B	0.23716	0.048	T	0.46596	-0.9180	10	0.36615	T	0.2	.	4.2963	0.10902	0.1456:0.1254:0.5998:0.1292	.	2195	F8WD23	.	R	2196;2195	ENSP00000377197:P2196R	ENSP00000313052:P2195R	P	-	2	0	HYDIN	69535298	0.970000	0.33590	0.460000	0.27093	0.046000	0.14306	1.611000	0.36879	0.655000	0.30866	0.609000	0.83330	CCC		0.602	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			C	70977797	G	C	70977797	3	2	169	1	0	0	0	0	1	0	0	0	7467	1232	43	3	8958	3	HYDIN	16	70977797	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	40956447	70977797	19376956	147	9681											
GAN	8139	genome.wustl.edu	37	16	81391420	81391420	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr16:81391420G>A	ENST00000568107.2	+	5	1019	c.857G>A	c.(856-858)cGg>cAg	p.R286Q		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	286					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R286Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CTTAGTTCACGGAAACCCACA	0.403																																					GBM(106;1239 1507 7582 9741 33976)											1	Substitution - Missense(1)	ovary(1)	16											176	157	164					16																	81391420		2202	4300	6502	79948921	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.857G>A	16.37:g.81391420G>A	ENSP00000476795:p.Arg286Gln		79948921		Missense_Mutation	SNP	ENST00000568107.2	37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684729	0.88639	.	.	ENSG00000127688	ENST00000248272	T	0.66815	-0.23	5.83	5.83	0.93111	Galactose oxidase, beta-propeller (1);	0.000000	0.37219	U	0.002182	T	0.56001	0.1956	N	0.19112	0.55	0.80722	D	1	D	0.57571	0.98	P	0.44422	0.449	T	0.52373	-0.8584	10	0.13853	T	0.58	.	20.1197	0.97955	0.0:0.0:1.0:0.0	.	286	Q9H2C0	GAN_HUMAN	Q	286	ENSP00000248272:R286Q	ENSP00000248272:R286Q	R	+	2	0	GAN	79948921	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	9.610000	0.98337	2.755000	0.94549	0.557000	0.71058	CGG		0.403	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			A	81391420	G	A	81391420	3	1	169	1	0	0	0	0	1	0	0	0	6232	1116	39	1	875	1	GAN	16	81391420	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	10413623	81391420	8963333	148	9682											
NXN	64359	genome.wustl.edu	37	17	725672	725672	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr17:725672C>T	ENST00000336868.3	-	4	729	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NXN_ENST00000575801.1_Missense_Mutation_p.R105Q|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'Flank	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	213	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.R213Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CACCAGGACCCGGGTGAGGCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											92	70	78					17																	725672		2203	4300	6503	672422	SO:0001583	missense	64359				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.638G>A	17.37:g.725672C>T	ENSP00000337443:p.Arg213Gln		672422	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997162	0.74818	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	T	0.80123	-1.34	5.94	5.94	0.96194	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.108375	0.64402	D	0.000004	D	0.82472	0.5044	N	0.12887	0.27	0.80722	D	1	B;D;D	0.76494	0.282;0.999;0.999	B;D;D	0.77557	0.035;0.99;0.986	D	0.85269	0.1055	10	0.66056	D	0.02	-15.4728	19.3475	0.94370	0.0:1.0:0.0:0.0	.	105;100;213	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	Q	213;105	ENSP00000337443:R213Q	ENSP00000337443:R213Q	R	-	2	0	NXN	672422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.881000	0.69706	2.816000	0.96949	0.563000	0.77884	CGG		0.607	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			T	725672	C	T	725672	3	4	169	1	0	0	0	0	1	0	0	0	10787	652	23	1	689	1	NXN	17	725672	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09		725672	80469538	149	9683											
SLC16A11	162515	genome.wustl.edu	37	17	6945155	6945155	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr17:6945155C>A	ENST00000308009.1	-	4	1596	c.1259G>T	c.(1258-1260)aGc>aTc	p.S420I	SLC16A11_ENST00000447225.1_Missense_Mutation_p.S388I	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	420					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S420I(1)		endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GTAGATGAAGCTGCCGGAGAG	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											38	49	46					17																	6945155		2199	4296	6495	6885879	SO:0001583	missense	162515			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1259G>T	17.37:g.6945155C>A	ENSP00000310490:p.Ser420Ile		6885879		Missense_Mutation	SNP	ENST00000308009.1	37	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828791	0.50845	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.57273	0.41;0.41	5.12	5.12	0.69794	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.340460	0.32488	N	0.006037	T	0.60495	0.2273	L	0.58101	1.795	0.35949	D	0.833792	D	0.59357	0.985	P	0.55055	0.767	T	0.64326	-0.6434	10	0.27082	T	0.32	.	13.9443	0.64075	0.0:1.0:0.0:0.0	.	420	Q8NCK7	MOT11_HUMAN	I	420;388	ENSP00000310490:S420I;ENSP00000394449:S388I	ENSP00000310490:S420I	S	-	2	0	SLC16A11	6885879	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.845000	0.39279	2.644000	0.89710	0.650000	0.86243	AGC		0.607	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		A	6945155	C	A	6945155	3	1	169	1	0	0	0	0	1	0	0	0	14407	797	28	3	160	3	SLC16A11	17	6945155	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	6219483	6945155	74250055	150	9684											
TP53	7157	genome.wustl.edu	37	17	7578440	7578440	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr17:7578440T>C	ENST00000269305.4	-	5	679	c.490A>G	c.(490-492)Aag>Gag	p.K164E	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.K164E|TP53_ENST00000420246.2_Missense_Mutation_p.K164E|TP53_ENST00000445888.2_Missense_Mutation_p.K164E|TP53_ENST00000359597.4_Missense_Mutation_p.K164E|TP53_ENST00000413465.2_Missense_Mutation_p.K164E	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	164	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K164E(15)|p.K164*(11)|p.0?(8)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.K71E(1)|p.K164fs*17(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.K32E(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)	TGTGACTGCTTGTAGATGGCC	0.627		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"	51	Substitution - Missense(19)|Substitution - Nonsense(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(1)	lung(12)|central_nervous_system(6)|bone(5)|urinary_tract(4)|breast(4)|oesophagus(4)|upper_aerodigestive_tract(3)|large_intestine(3)|ovary(3)|liver(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	17											54	54	54					17																	7578440		2203	4300	6503	7519165	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.490A>G	17.37:g.7578440T>C	ENSP00000269305:p.Lys164Glu		7519165	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	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195088	0.58017	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.59	4.5	0.54988	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	0.99585	0.9850	M	0.62088	1.915	0.58432	D	0.999992	D;D;D;D;D;P;D	0.89917	0.986;0.996;0.965;0.998;0.997;0.95;1.0	D;D;P;D;D;P;D	0.85130	0.934;0.952;0.76;0.98;0.972;0.9;0.997	D	0.98302	1.0519	10	0.87932	D	0	-15.5455	10.4804	0.44689	0.1456:0.0:0.0:0.8544	.	125;164;164;71;164;164;164	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	164;164;164;164;164;164;153;71;32;71;32;164	ENSP00000410739:K164E;ENSP00000352610:K164E;ENSP00000269305:K164E;ENSP00000398846:K164E;ENSP00000391127:K164E;ENSP00000391478:K164E;ENSP00000425104:K32E;ENSP00000423862:K71E;ENSP00000424104:K164E	ENSP00000269305:K164E	K	-	1	0	TP53	7519165	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.996000	0.88334	1.039000	0.40074	-0.336000	0.08194	AAG		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578440	T	C	7578440	3	2	169	1	0	0	0	0	1	0	0	0	16381	1821	63	4	808	4	TP53	17	7578440	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	633285	7578440	73616770	151	9685											
ADORA2B	136	genome.wustl.edu	37	17	15878585	15878585	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr17:15878585C>T	ENST00000304222.2	+	2	1260	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	310					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.L310F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	CAGGTATCTTCTCTGCCAAGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											103	109	107					17																	15878585		2203	4300	6503	15819310	SO:0001583	missense	136			M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"GPCR / Class A : Adenosine receptors"	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.928C>T	17.37:g.15878585C>T	ENSP00000304501:p.Leu310Phe		15819310		Missense_Mutation	SNP	ENST00000304222.2	37	CCDS11173.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650058	0.29336	.	.	ENSG00000170425	ENST00000304222	T	0.37411	1.2	5.79	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	N	0.17082	0.46	0.47374	D	0.999408	B	0.15719	0.014	B	0.14023	0.01	T	0.07139	-1.0788	10	0.19147	T	0.46	-13.9349	9.6001	0.39598	0.0:0.7842:0.1416:0.0742	.	310	P29275	AA2BR_HUMAN	F	310	ENSP00000304501:L310F	ENSP00000304501:L310F	L	+	1	0	ADORA2B	15819310	1.000000	0.71417	0.920000	0.36463	0.512000	0.34134	4.280000	0.58959	1.464000	0.47987	-0.253000	0.11424	CTC		0.498	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1			T	15878585	C	T	15878585	3	4	169	1	0	0	0	0	1	0	0	0	328	913	32	2	934	2	ADORA2B	17	15878585	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	8300145	15878585	65316625	152	9686											
RNF112	7732	genome.wustl.edu	37	17	19317435	19317435	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr17:19317435G>A	ENST00000461366.1	+	7	1068	c.853G>A	c.(853-855)Gat>Aat	p.D285N	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	285	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.D285N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGAGCTGAAGGATACAGACCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	17											62	63	63					17																	19317435		1890	4113	6003	19258027	SO:0001583	missense	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.853G>A	17.37:g.19317435G>A	ENSP00000454919:p.Asp285Asn		19258027	O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	CCDS58529.1																																																																																				0.562	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		A	19317435	G	A	19317435	3	1	169	1	0	0	0	0	1	0	0	0	13429	1174	41	2	589	2	RNF112	17	19317435	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	3438850	19317435	61877775	153	9687											
PSMD3	5709	genome.wustl.edu	37	17	38151480	38151480	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr17:38151480G>T	ENST00000264639.4	+	8	1322	c.1148G>T	c.(1147-1149)gGg>gTg	p.G383V	PSMD3_ENST00000541736.1_Missense_Mutation_p.G245V	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	383	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.G383V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GATCAGTTTGGGGAGAAGTTT	0.517																																					Ovarian(186;531 2051 6385 19668 48409)											3	Substitution - Missense(3)	prostate(2)|ovary(1)	17											191	190	190					17																	38151480		2203	4300	6503	35405006	SO:0001583	missense	5709			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"Proteasome (prosome, macropain) subunits"	9560	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 2"	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1148G>T	17.37:g.38151480G>T	ENSP00000264639:p.Gly383Val		35405006	B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052366	0.75960	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.28895	1.59;1.59	5.17	5.17	0.71159	Tetratricopeptide-like helical (1);PCI/PINT associated module (1);Proteasome component (PCI) domain (1);	0.101932	0.64402	D	0.000002	T	0.47469	0.1447	M	0.82323	2.585	0.80722	D	1	B	0.29671	0.254	B	0.38755	0.281	T	0.52931	-0.8509	10	0.72032	D	0.01	-32.1036	17.6102	0.88050	0.0:0.0:1.0:0.0	.	383	O43242	PSMD3_HUMAN	V	383;370;245	ENSP00000264639:G383V;ENSP00000442508:G245V	ENSP00000264639:G383V	G	+	2	0	PSMD3	35405006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.257000	0.72480	2.687000	0.91594	0.655000	0.94253	GGG		0.517	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		T	38151480	G	T	38151480	3	4	169	1	0	0	0	0	1	0	0	0	12702	1232	43	3	1178	3	PSMD3	17	38151480	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	18834045	38151480	43043730	154	9688											
C1QTNF1	114897	genome.wustl.edu	37	17	77043752	77043752	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr17:77043752G>A	ENST00000339142.2	+	5	983	c.428G>A	c.(427-429)aGc>aAc	p.S143N	C1QTNF1_ENST00000579760.1_Missense_Mutation_p.S143N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.S61N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.S143N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.S143N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.S143N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.S61N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.S153N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.S143N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.S143N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	143	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)	p.S61N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CGGTGCAAGAGCCACTACGCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	17											61	61	61					17																	77043752		2203	4300	6503	74555347	SO:0001583	missense	114897			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.428G>A	17.37:g.77043752G>A	ENSP00000340864:p.Ser143Asn		74555347	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	6.713	0.500316	0.12762	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;D;T	0.81659	-1.0;-1.52;-1.02	5.33	1.82	0.25136	Tumour necrosis factor-like (1);Complement C1q protein (2);	0.459560	0.23724	N	0.045183	T	0.64583	0.2611	L	0.34521	1.04	0.33892	D	0.637441	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.008;0.008;0.008	T	0.54344	-0.8308	10	0.17369	T	0.5	.	4.8665	0.13611	0.4576:0.283:0.2593:0.0	.	153;153;143	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	N	143;61;153;143;153	ENSP00000340864:S143N;ENSP00000311265:S61N;ENSP00000343230:S153N	ENSP00000311265:S61N	S	+	2	0	C1QTNF1	74555347	0.074000	0.21230	0.998000	0.56505	0.761000	0.43186	-0.455000	0.06762	0.032000	0.15435	-0.367000	0.07326	AGC		0.612	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		A	77043752	G	A	77043752	3	1	169	1	0	0	0	0	1	0	0	0	1962	971	34	2	438	2	C1QTNF1	17	77043752	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	38892272	77043752	4151458	155	9689											
KIAA0802	23255	genome.wustl.edu	37	18	8784735	8784735	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr18:8784735C>A	ENST00000306329.11	+	5	2705	c.2705C>A	c.(2704-2706)cCc>cAc	p.P902H	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.P542H|SOGA2_ENST00000359865.3_Missense_Mutation_p.P542H|SOGA2_ENST00000400050.3_Missense_Mutation_p.P542H														p.P542H(1)									GGCCTATCCCCCTTGCCCCAC	0.617																																																1	Substitution - Missense(1)	ovary(1)	18											89	89	89					18																	8784735		2203	4300	6503	8774735	SO:0001583	missense	23255																														ENST00000306329.11:c.2705C>A	18.37:g.8784735C>A	ENSP00000305027:p.Pro902His		8774735		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	11.11	1.543429	0.27563	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.51574	0.7;0.7;0.7	5.35	5.35	0.76521	.	0.150419	0.31612	N	0.007342	T	0.66781	0.2824	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.957;0.981	T	0.68580	-0.5371	10	0.66056	D	0.02	-21.1224	19.0641	0.93103	0.0:1.0:0.0:0.0	.	563;542	A8MQ54;Q9Y4B5-3	.;.	H	563;542;542;542	ENSP00000429556:P542H;ENSP00000352927:P542H;ENSP00000382924:P542H	ENSP00000305027:P563H	P	+	2	0	CCDC165	8774735	1.000000	0.71417	0.938000	0.37757	0.705000	0.40729	7.487000	0.81328	2.497000	0.84241	0.655000	0.94253	CCC		0.617	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			A	8784735	C	A	8784735	3	1	169	1	0	0	0	0	1	0	0	0	8194	623	22	3	1639	3	KIAA0802	18	8784735	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09		8784735	69292513	156	9690											
CHST9	83539	genome.wustl.edu	37	18	24496362	24496362	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr18:24496362C>T	ENST00000284224.8	-	6	1470	c.1193G>A	c.(1192-1194)aGg>aAg	p.R398K	CHST9_ENST00000581714.1_Missense_Mutation_p.R398K|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	398					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.R398K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GGAAGAGTGCCTATCCTTAAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	18											154	142	146					18																	24496362		1839	4092	5931	22750360	SO:0001583	missense	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1193G>A	18.37:g.24496362C>T	ENSP00000284224:p.Arg398Lys		22750360	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749683	0.69533	.	.	ENSG00000154080	ENST00000284224	T	0.73047	-0.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81903	0.4921	L	0.49640	1.575	0.80722	D	1	D	0.67145	0.996	D	0.69824	0.966	T	0.81106	-0.1083	10	0.62326	D	0.03	-25.1503	20.6593	0.99626	0.0:1.0:0.0:0.0	.	398	Q7L1S5	CHST9_HUMAN	K	398	ENSP00000284224:R398K	ENSP00000284224:R398K	R	-	2	0	CHST9	22750360	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	5.733000	0.68571	2.885000	0.99019	0.655000	0.94253	AGG		0.373	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		T	24496362	C	T	24496362	3	4	169	1	0	0	0	0	1	0	0	0	3411	681	24	2	142	2	CHST9	18	24496362	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	15711627	24496362	53580886	157	9691											
ACAA2	10449	genome.wustl.edu	37	18	47310299	47310299	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr18:47310299C>G	ENST00000285093.10	-	10	1587	c.1112G>C	c.(1111-1113)cGt>cCt	p.R371P	ACAA2_ENST00000587994.1_Missense_Mutation_p.R368P|ACAA2_ENST00000589432.1_Missense_Mutation_p.R316P	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	371					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)	p.R371P(1)		large_intestine(2)|lung(7)|ovary(1)	10						TCCACCTCGACGCCTGAAAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	18											72	57	62					18																	47310299		2203	4300	6503	45564297	SO:0001583	missense	10449			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"mitochondrial 3-oxoacyl-Coenzyme A thiolase"	604770	"acetyl-Coenzyme A acyltransferase 2"			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.1112G>C	18.37:g.47310299C>G	ENSP00000285093:p.Arg371Pro		45564297	Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372572	0.61624	.	.	ENSG00000167315	ENST00000285093	D	0.93133	-3.17	5.88	5.01	0.66863	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97198	0.9084	M	0.91196	3.185	0.80722	D	1	D;D	0.67145	0.991;0.996	D;D	0.72982	0.931;0.979	D	0.97969	1.0342	10	0.87932	D	0	-19.5067	14.7838	0.69787	0.0:0.9312:0.0:0.0688	.	371;371	B2RB23;P42765	.;THIM_HUMAN	P	371	ENSP00000285093:R371P	ENSP00000285093:R371P	R	-	2	0	ACAA2	45564297	1.000000	0.71417	0.985000	0.45067	0.147000	0.21601	7.094000	0.76944	1.487000	0.48415	0.655000	0.94253	CGT		0.408	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		G	47310299	C	G	47310299	3	3	169	1	0	0	0	0	1	0	0	0	105	536	19	3	85	3	ACAA2	18	47310299	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	22813937	47310299	30766949	158	9692											
OR7D2	162998	genome.wustl.edu	37	19	9296785	9296785	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:9296785C>G	ENST00000344248.2	+	1	507	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	110					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L110V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTTCCTATTCTGGACACGCT	0.517																																																1	Substitution - Missense(1)	ovary(1)	19											182	167	172					19																	9296785		2203	4300	6503	9157785	SO:0001583	missense	162998			AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.328C>G	19.37:g.9296785C>G	ENSP00000345563:p.Leu110Val		9157785	Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	0.830	-0.745599	0.03065	.	.	ENSG00000188000	ENST00000344248	T	0.00653	5.96	2.21	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31268	U	0.007960	T	0.00496	0.0016	L	0.28649	0.875	0.09310	N	1	B	0.23058	0.079	B	0.19946	0.027	T	0.49466	-0.8937	10	0.62326	D	0.03	.	1.8614	0.03189	0.4995:0.2153:0.1648:0.1204	.	110	Q96RA2	OR7D2_HUMAN	V	110	ENSP00000345563:L110V	ENSP00000345563:L110V	L	+	1	2	OR7D2	9157785	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.338000	0.07842	-0.321000	0.08627	0.511000	0.50034	CTG		0.517	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			G	9296785	C	G	9296785	3	3	169	1	0	0	0	0	1	0	0	0	11219	912	32	3	330	3	OR7D2	19	9296785	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09		9296785	49832198	159	9693											
CYP4F12	66002	genome.wustl.edu	37	19	15793204	15793204	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:15793204G>T	ENST00000550308.1	+	6	911	c.531G>T	c.(529-531)aaG>aaT	p.K177N	CYP4F12_ENST00000324632.10_Missense_Mutation_p.K177N	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	177					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.K177N(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCCAGGACAAGTGGCAGCACC	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											61	57	59					19																	15793204		2203	4300	6503	15654204	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.531G>T	19.37:g.15793204G>T	ENSP00000448998:p.Lys177Asn		15654204	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	13.13	2.144196	0.37825	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69806	-0.43;-0.43	2.36	1.26	0.21427	.	0.072728	0.52532	U	0.000068	T	0.66723	0.2818	L	0.55743	1.74	0.37933	D	0.932079	P	0.45011	0.848	P	0.51742	0.678	T	0.67565	-0.5638	10	0.51188	T	0.08	.	8.1436	0.31097	0.0:0.0:0.7582:0.2418	.	177	Q9HCS2	CP4FC_HUMAN	N	177	ENSP00000448998:K177N;ENSP00000321821:K177N	ENSP00000321821:K177N	K	+	3	2	CYP4F12	15654204	1.000000	0.71417	0.998000	0.56505	0.363000	0.29612	1.013000	0.29937	0.516000	0.28340	0.491000	0.48974	AAG		0.567	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			T	15793204	G	T	15793204	3	4	169	1	0	0	0	0	1	0	0	0	4187	1020	36	3	549	3	CYP4F12	19	15793204	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	6496419	15793204	43335779	160	9694											
ZNF90	7643	genome.wustl.edu	37	19	20216091	20216091	+	Silent	SNP	T	T	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:20216091T>A	ENST00000418063.2	+	3	304	c.192T>A	c.(190-192)acT>acA	p.T64T	ZNF90_ENST00000474284.1_3'UTR	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T64T(2)		breast(1)|lung(2)|ovary(1)|skin(1)	5						AACCCTTCACTGTGAAGAGAC	0.398																																																2	Substitution - coding silent(2)	ovary(2)	19											110	111	111					19																	20216091		692	1591	2283	20077091	SO:0001819	synonymous_variant	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.192T>A	19.37:g.20216091T>A			20077091	B9EH87	Silent	SNP	ENST00000418063.2	37	CCDS46028.1																																																																																				0.398	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		A	20216091	T	A	20216091	2	1	169	1	0	0	0	0	0	0	0	1	18199	1567	55	5		5	ZNF90	19	20216091	Silent	SNP	T	TCGA-23-1022-01A-02W-0488-09	4422887	20216091	38912892	161	9695											
ZNF91	7644	genome.wustl.edu	37	19	23542956	23542956	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:23542956T>G	ENST00000300619.7	-	4	3030	c.2825A>C	c.(2824-2826)gAa>gCa	p.E942A	ZNF91_ENST00000397082.2_Missense_Mutation_p.E910A|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	942					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E942A(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTGCCACATTCTTCACATTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	19											64	67	66					19																	23542956		2172	4283	6455	23334796	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2825A>C	19.37:g.23542956T>G	ENSP00000300619:p.Glu942Ala		23334796	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.341662	0.24339	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.06933	3.24;3.24	1.34	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16128	0.0388	L	0.42487	1.325	0.09310	N	1	D;D	0.71674	0.998;0.987	P;D	0.63793	0.854;0.918	T	0.10382	-1.0632	9	0.56958	D	0.05	.	7.53	0.27677	0.0:0.0:0.0:1.0	.	910;942	Q05481-2;Q05481	.;ZNF91_HUMAN	A	942;910	ENSP00000300619:E942A;ENSP00000380272:E910A	ENSP00000300619:E942A	E	-	2	0	ZNF91	23334796	0.000000	0.05858	0.512000	0.27736	0.122000	0.20287	-0.101000	0.10973	0.569000	0.29329	0.172000	0.16884	GAA		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		G	23542956	T	G	23542956	3	3	169	1	0	0	0	0	1	0	0	0	18200	1783	62	5	754	5	ZNF91	19	23542956	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	3326865	23542956	35586027	162	9696											
FAM187B	148109	genome.wustl.edu	37	19	35719310	35719310	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:35719310G>A	ENST00000324675.3	-	1	322	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	92						integral component of membrane (GO:0016021)		p.L92F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CAGTGGTAGAGGCCCGTCTGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											78	71	73					19																	35719310		2203	4300	6503	40411150	SO:0001583	missense	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.274C>T	19.37:g.35719310G>A	ENSP00000323355:p.Leu92Phe		40411150	Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	2.400	-0.337877	0.05278	.	.	ENSG00000177558	ENST00000324675	T	0.23147	1.92	5.33	-10.7	0.00240	Immunoglobulin-like fold (1);	1.444210	0.04160	N	0.322854	T	0.08268	0.0206	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27331	-1.0077	10	0.33141	T	0.24	-12.6343	0.3105	0.00287	0.2637:0.1932:0.2743:0.2689	.	92	Q17R55	F187B_HUMAN	F	92	ENSP00000323355:L92F	ENSP00000323355:L92F	L	-	1	0	FAM187B	40411150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.936000	0.00685	-4.132000	0.00071	-4.230000	0.00009	CTC		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		A	35719310	G	A	35719310	3	1	169	1	0	0	0	0	1	0	0	0	5513	1000	35	2	843	2	FAM187B	19	35719310	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	12176354	35719310	23409673	163	9697											
RYR1	6261	genome.wustl.edu	37	19	38998378	38998378	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:38998378C>G	ENST00000359596.3	+	58	8843	c.8843C>G	c.(8842-8844)tCg>tGg	p.S2948W	RYR1_ENST00000355481.4_Missense_Mutation_p.S2948W|RYR1_ENST00000360985.3_Missense_Mutation_p.S2948W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2948	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.S2948W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAACTGGACTCGTCTTCCATT	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											160	140	147					19																	38998378		2203	4300	6503	43690218	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8843C>G	19.37:g.38998378C>G	ENSP00000352608:p.Ser2948Trp		43690218	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865557	0.32977	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96967	-4.19;-4.19;-4.18	4.15	4.15	0.48705	.	0.181373	0.31199	U	0.008067	D	0.95001	0.8382	L	0.40543	1.245	0.44852	D	0.997868	P;P	0.42827	0.791;0.687	P;B	0.47346	0.544;0.342	D	0.94821	0.7987	10	0.42905	T	0.14	.	16.2015	0.82084	0.0:1.0:0.0:0.0	.	2948;2948	P21817-2;P21817	.;RYR1_HUMAN	W	2948	ENSP00000352608:S2948W;ENSP00000347667:S2948W;ENSP00000354254:S2948W	ENSP00000347667:S2948W	S	+	2	0	RYR1	43690218	0.992000	0.36948	0.973000	0.42090	0.943000	0.58893	4.385000	0.59613	2.155000	0.67459	0.305000	0.20034	TCG		0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	38998378	C	G	38998378	3	3	169	1	0	0	0	0	1	0	0	0	13771	893	31	3	9073	3	RYR1	19	38998378	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	3279068	38998378	20130605	164	9698											
NUMBL	9253	genome.wustl.edu	37	19	41188843	41188843	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:41188843G>A	ENST00000252891.4	-	4	447	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000540131.1_Missense_Mutation_p.R53W|NUMBL_ENST00000598779.1_Missense_Mutation_p.R53W	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	94	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)		p.R94W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGCATTCCCCGGGACTCCTCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											141	120	127					19																	41188843		2203	4300	6503	45880683	SO:0001583	missense	9253			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.280C>T	19.37:g.41188843G>A	ENSP00000252891:p.Arg94Trp		45880683	Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923144	0.52653	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.19532	2.14;2.14	4.16	0.501	0.16925	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	M	0.91972	3.26	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59231	-0.7493	10	0.87932	D	0	-21.8703	11.9091	0.52729	0.0:0.0:0.3957:0.6042	.	94;94	A8K033;Q9Y6R0	.;NUMBL_HUMAN	W	94;53	ENSP00000252891:R94W;ENSP00000442759:R53W	ENSP00000252891:R94W	R	-	1	2	NUMBL	45880683	0.939000	0.31865	0.994000	0.49952	0.460000	0.32559	0.696000	0.25541	0.091000	0.17302	0.460000	0.39030	CGG		0.592	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		A	41188843	G	A	41188843	3	1	169	1	0	0	0	0	1	0	0	0	10752	1115	39	1	1577	1	NUMBL	19	41188843	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	2190465	41188843	17940140	165	9699											
B9D2	80776	genome.wustl.edu	37	19	41863906	41863906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:41863906G>T	ENST00000243578.3	-	3	329	c.110C>A	c.(109-111)tCa>tAa	p.S37*	CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron|TMEM91_ENST00000604123.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	37	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)	p.S37*(1)		large_intestine(1)|ovary(1)	2						CCGCACGCCTGACAGGAGCTT	0.627																																																1	Substitution - Nonsense(1)	ovary(1)	19											76	61	66					19																	41863906		2203	4300	6503	46555746	SO:0001587	stop_gained	80776			BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.110C>A	19.37:g.41863906G>T	ENSP00000243578:p.Ser37*		46555746		Nonsense_Mutation	SNP	ENST00000243578.3	37	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098232	0.94197	.	.	ENSG00000123810	ENST00000243578	.	.	.	4.48	4.48	0.54585	.	0.074638	0.56097	U	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0826	0.81014	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000243578:S37X	S	-	2	0	B9D2	46555746	1.000000	0.71417	0.966000	0.40874	0.360000	0.29518	8.426000	0.90273	2.332000	0.79248	0.313000	0.20887	TCA		0.627	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		T	41863906	G	T	41863906	4	4	169	1	0	0	0	0	0	1	0	0	1278	1294	45	3	425	3	B9D2	19	41863906	Nonsense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	675063	41863906	17265077	166	9700											
MYH14	79784	genome.wustl.edu	37	19	50804965	50804965	+	Silent	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:50804965C>G	ENST00000596571.1	+	37	5394	c.5394C>G	c.(5392-5394)gcC>gcG	p.A1798A	MYH14_ENST00000440075.2_Silent_p.A1839A|MYH14_ENST00000262269.8_Silent_p.A1839A|MYH14_ENST00000425460.1_Silent_p.A1806A|MYH14_ENST00000376970.2_Silent_p.A1831A|MYH14_ENST00000598205.1_Silent_p.A1806A|MYH14_ENST00000601313.1_Silent_p.A1839A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1798					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTTTCTCAGCCAAGGCAGAGA	0.622																																																0			19											39	46	44					19																	50804965		2055	4223	6278	55496777	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5394C>G	19.37:g.50804965C>G			55496777	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																				0.622	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		G	50804965	C	G	50804965	2	3	169	1	0	0	0	0	0	0	0	1	10033	581	21	3		3	MYH14	19	50804965	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	8941059	50804965	8324018	167	9701											
KLK3	354	genome.wustl.edu	37	19	51361312	51361312	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:51361312C>A	ENST00000326003.2	+	3	275	c.234C>A	c.(232-234)caC>caA	p.H78Q	KLK3_ENST00000593997.1_Missense_Mutation_p.H78Q|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.H78Q	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	78	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.H78Q(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGGGTCGGCACAGCCTGTTTC	0.537																																					Colon(185;1767 2023 13025 30120 37630)											1	Substitution - Missense(1)	ovary(1)	19											65	56	59					19																	51361312		2203	4300	6503	56053124	SO:0001583	missense	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.234C>A	19.37:g.51361312C>A	ENSP00000314151:p.His78Gln		56053124	C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936722	0.52972	.	.	ENSG00000142515	ENST00000326003;ENST00000360617;ENST00000326052	D;D	0.89746	-2.56;-2.56	2.31	1.26	0.21427	.	0.591479	0.14082	N	0.342610	D	0.92381	0.7582	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.74023	0.962;0.982	D	0.89987	0.4105	10	0.87932	D	0	.	7.202	0.25887	0.0:0.8512:0.0:0.1488	.	78;78	Q8NCW4;G3XAE3	.;.	Q	78	ENSP00000314151:H78Q;ENSP00000353829:H78Q	ENSP00000314151:H78Q	H	+	3	2	KLK3	56053124	0.000000	0.05858	0.003000	0.11579	0.153000	0.21895	-0.143000	0.10296	0.520000	0.28426	0.505000	0.49811	CAC		0.537	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		A	51361312	C	A	51361312	3	1	169	1	0	0	0	0	1	0	0	0	8405	477	17	3	248	3	KLK3	19	51361312	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	556347	51361312	7767671	168	9702											
SIGLEC8	27181	genome.wustl.edu	37	19	51957963	51957963	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:51957963G>T	ENST00000321424.3	-	5	1189	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L282M|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L266M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	375					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.L375M(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGAAGGACAGGAAGGCCAGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	19											137	125	129					19																	51957963		2203	4300	6503	56649775	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1123C>A	19.37:g.51957963G>T	ENSP00000321077:p.Leu375Met		56649775	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.59	1.983117	0.34942	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.69806	0.94;-0.43;0.65	2.31	0.102	0.14522	.	1.150660	0.07064	U	0.834174	T	0.80884	0.4709	M	0.87547	2.89	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.994	T	0.62105	-0.6924	10	0.87932	D	0	.	3.9509	0.09369	0.3995:0.0:0.6005:0.0	.	266;282;375	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	M	266;375;282	ENSP00000389142:L266M;ENSP00000321077:L375M;ENSP00000339448:L282M	ENSP00000321077:L375M	L	-	1	2	SIGLEC8	56649775	0.000000	0.05858	0.002000	0.10522	0.240000	0.25518	-0.370000	0.07523	0.311000	0.23014	0.393000	0.25936	CTG		0.582	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		T	51957963	G	T	51957963	3	4	169	1	0	0	0	0	1	0	0	0	14317	991	35	3	388	3	SIGLEC8	19	51957963	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	596651	51957963	7171020	169	9703											
ZNF613	79898	genome.wustl.edu	37	19	52448889	52448889	+	Silent	SNP	T	T	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:52448889T>C	ENST00000293471.6	+	6	2432	c.1753T>C	c.(1753-1755)Tta>Cta	p.L585L	ZNF613_ENST00000391794.4_Silent_p.L549L|ZNF613_ENST00000601794.1_Intron	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L585L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCAGACCTCATTAACTAACAG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	19											86	72	77					19																	52448889		2203	4300	6503	57140701	SO:0001819	synonymous_variant	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1753T>C	19.37:g.52448889T>C			57140701	Q96SS9	Silent	SNP	ENST00000293471.6	37	CCDS33089.1																																																																																				0.448	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		C	52448889	T	C	52448889	2	2	169	1	0	0	0	0	0	0	0	1	18038	1490	52	4		4	ZNF613	19	52448889	Silent	SNP	T	TCGA-23-1022-01A-02W-0488-09	490926	52448889	6680094	170	9704											
NLRP12	91662	genome.wustl.edu	37	19	54314534	54314534	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:54314534C>T	ENST00000324134.6	-	3	547	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	NLRP12_ENST00000391772.1_Missense_Mutation_p.E127K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E127K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E127K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E127K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E127K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E127K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E127K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	127					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.E127K(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGTAGGTTTCCTGGGGATCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											73	71	72					19																	54314534		2202	4295	6497	59006346	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.379G>A	19.37:g.54314534C>T	ENSP00000319377:p.Glu127Lys		59006346	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	8.754	0.922051	0.17982	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.73681	-0.7;-0.73;-0.76;-0.77;-0.75;-0.69;-0.75	4.47	2.3	0.28687	.	0.703660	0.12215	N	0.488905	T	0.49677	0.1571	L	0.28014	0.82	0.18873	N	0.999981	P;P;P;P	0.40144	0.454;0.651;0.651;0.704	B;B;B;B	0.33521	0.15;0.115;0.165;0.152	T	0.41288	-0.9517	10	0.06625	T	0.88	.	3.8827	0.09085	0.1885:0.5987:0.0:0.2128	.	127;127;127;127	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	127	ENSP00000319377:E127K;ENSP00000438030:E127K;ENSP00000340473:E127K;ENSP00000346231:E127K;ENSP00000375655:E127K;ENSP00000375653:E127K;ENSP00000375652:E127K	ENSP00000319377:E127K	E	-	1	0	NLRP12	59006346	0.001000	0.12720	0.002000	0.10522	0.243000	0.25628	0.402000	0.20965	0.431000	0.26258	0.306000	0.20318	GAA		0.542	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54314534	C	T	54314534	3	4	169	1	0	0	0	0	1	0	0	0	10474	864	30	2	2934	2	NLRP12	19	54314534	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	1865645	54314534	4814449	171	9705											
BRSK1	84446	genome.wustl.edu	37	19	55805588	55805588	+	Silent	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:55805588C>A	ENST00000309383.1	+	6	859	c.582C>A	c.(580-582)ccC>ccA	p.P194P	BRSK1_ENST00000585418.1_Silent_p.P194P|BRSK1_ENST00000590333.1_Silent_p.P210P	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.P194P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCAGGTCCCCCCATTATGCGT	0.617																																																1	Substitution - coding silent(1)	ovary(1)	19											82	85	84					19																	55805588		2203	4300	6503	60497400	SO:0001819	synonymous_variant	84446			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.582C>A	19.37:g.55805588C>A			60497400	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	CCDS12921.1																																																																																				0.617	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		A	55805588	C	A	55805588	2	1	169	1	0	0	0	0	0	0	0	1	1523	610	22	3		3	BRSK1	19	55805588	Silent	SNP	C	TCGA-23-1022-01A-02W-0488-09	1491054	55805588	3323395	172	9706											
NLRP13	126204	genome.wustl.edu	37	19	56423971	56423971	+	Missense_Mutation	SNP	T	T	A	rs149489544		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:56423971T>A	ENST00000342929.3	-	5	1211	c.1212A>T	c.(1210-1212)gaA>gaT	p.E404D	NLRP13_ENST00000588751.1_Missense_Mutation_p.E404D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	404	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.E404D(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTTTCTCAACTTCACTTGAGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	19											86	90	89					19																	56423971		2203	4300	6503	61115783	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1212A>T	19.37:g.56423971T>A	ENSP00000343891:p.Glu404Asp		61115783	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	7.970	0.748967	0.15710	.	.	ENSG00000173572	ENST00000342929	T	0.73047	-0.71	2.7	-3.58	0.04597	.	.	.	.	.	T	0.42653	0.1212	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.21917	0.037	T	0.17745	-1.0359	9	0.40728	T	0.16	.	0.8016	0.01076	0.1622:0.2545:0.1636:0.4197	.	404	Q86W25	NAL13_HUMAN	D	404	ENSP00000343891:E404D	ENSP00000343891:E404D	E	-	3	2	NLRP13	61115783	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.703000	0.05063	-1.109000	0.02996	-1.431000	0.01090	GAA		0.448	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56423971	T	A	56423971	3	1	169	1	0	0	0	0	1	0	0	0	10475	1606	56	5	1945	5	NLRP13	19	56423971	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09	618383	56423971	2705012	173	9707											
ZNF583	147949	genome.wustl.edu	37	19	56925716	56925716	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:56925716G>T	ENST00000333201.9	+	4	349	c.139G>T	c.(139-141)Gtt>Ttt	p.V47F	ZNF583_ENST00000291598.7_Missense_Mutation_p.V47F	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V47F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GTAAGCAGGAGTTTCTGTTTC	0.453																																																1	Substitution - Missense(1)	ovary(1)	19											94	103	100					19																	56925716		2203	4300	6503	61617528	SO:0001583	missense	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.139G>T	19.37:g.56925716G>T	ENSP00000388502:p.Val47Phe		61617528	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949729	0.53186	.	.	ENSG00000198440	ENST00000537943;ENST00000291598;ENST00000333201;ENST00000391778;ENST00000436972	T;T;T;T	0.00801	5.68;5.68;5.68;5.68	4.72	-7.55	0.01327	Krueppel-associated box (3);	0.213057	0.23736	N	0.045064	T	0.00300	0.0009	N	0.00321	-1.65	0.09310	N	1	B	0.29805	0.257	B	0.29942	0.109	T	0.52381	-0.8583	10	0.41790	T	0.15	.	7.1416	0.25558	0.0971:0.6142:0.1646:0.1241	.	47	Q96ND8	ZN583_HUMAN	F	47	ENSP00000444291:V47F;ENSP00000291598:V47F;ENSP00000388502:V47F;ENSP00000375657:V47F	ENSP00000291598:V47F	V	+	1	0	ZNF583	61617528	0.000000	0.05858	0.001000	0.08648	0.956000	0.61745	-4.190000	0.00277	-0.682000	0.05197	0.467000	0.42956	GTT		0.453	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		T	56925716	G	T	56925716	3	4	169	1	0	0	0	0	1	0	0	0	18015	1029	36	3	149	3	ZNF583	19	56925716	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	501745	56925716	2203267	174	9708											
ZNF324B	388569	genome.wustl.edu	37	19	58967205	58967205	+	Silent	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr19:58967205G>C	ENST00000336614.4	+	4	1001	c.894G>C	c.(892-894)tcG>tcC	p.S298S	ZNF324B_ENST00000545523.1_Silent_p.S298S|ZNF324B_ENST00000391696.1_Silent_p.S288S	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S298S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCAGACGTCGCACTTGACGC	0.677																																																1	Substitution - coding silent(1)	ovary(1)	19											43	38	39					19																	58967205		2201	4298	6499	63659017	SO:0001819	synonymous_variant	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.894G>C	19.37:g.58967205G>C			63659017	B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	CCDS33138.1																																																																																				0.677	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		C	58967205	G	C	58967205	2	2	169	1	0	0	0	0	0	0	0	1	17845	1074	38	3		3	ZNF324B	19	58967205	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	2041489	58967205	161778	175	9709											
RIMS4	140730	genome.wustl.edu	37	20	43384918	43384919	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G|C	G|C	G|C	A|G	G|C	G|C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr20:43384918_43384919GC>AG	ENST00000372851.3	-	6	732_733	c.666_667GC>CT	c.(664-669)gaGCtg>gaCTtg	p.E222D	RIMS4_ENST00000541604.2_Missense_Mutation_p.E223D	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	222					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.L223L(1)|p.E222D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GTCAAGTCCAGCTCCTCCAGCA	0.644																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(2)	20																																								42818332|42818333	SO:0001583	missense	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.666_667delinsAG	20.37:g.43384918_43384919delinsAG	ENSP00000361942:p.Glu222Asp		42818332|42818333	A4FU94|E1P613|Q3MI44|Q5JWT7	Silent|Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1																																																																																				0.644	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		AG	43384919	GC	AG	43384918	3	1	169	1	0	0	0	0	1	0	0	0	13373	962	34	2	146	2	RIMS4	20	43384918	Missense_Mutation	DNP	GC	TCGA-23-1022-01A-02W-0488-09		43384918	19640602	176	9710											
PTGIS	5740	genome.wustl.edu	37	20	48130869	48130869	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr20:48130869C>A	ENST00000244043.4	-	7	948	c.919G>T	c.(919-921)Gct>Tct	p.A307S	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	307					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.A307S(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	CGGACAGCAGCCAGGGCTTCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	20											52	49	50					20																	48130869		2203	4300	6503	47564276	SO:0001583	missense	5740				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.919G>T	20.37:g.48130869C>A	ENSP00000244043:p.Ala307Ser		47564276	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	7.421	0.636689	0.14386	.	.	ENSG00000124212	ENST00000244043	T	0.01379	4.96	4.1	3.12	0.35913	.	0.327620	0.27640	N	0.018461	T	0.02533	0.0077	L	0.60957	1.885	0.40171	D	0.977179	B	0.33583	0.418	B	0.39339	0.297	T	0.53933	-0.8368	10	0.48119	T	0.1	-17.051	9.0233	0.36213	0.0:0.8814:0.0:0.1186	.	307	Q16647	PTGIS_HUMAN	S	307	ENSP00000244043:A307S	ENSP00000244043:A307S	A	-	1	0	PTGIS	47564276	0.259000	0.24043	0.851000	0.33527	0.773000	0.43773	0.459000	0.21908	0.780000	0.33566	0.561000	0.74099	GCT		0.577	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			A	48130869	C	A	48130869	3	1	169	1	0	0	0	0	1	0	0	0	12755	739	26	3	599	3	PTGIS	20	48130869	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	4745951	48130869	14894651	177	9711											
TIAM1	7074	genome.wustl.edu	37	21	32638780	32638780	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr21:32638780G>A	ENST00000286827.3	-	5	980	c.509C>T	c.(508-510)tCc>tTc	p.S170F	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.S170F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	170					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S170F(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGCAGATTTGGAGCGTTTCTT	0.502																																																1	Substitution - Missense(1)	ovary(1)	21											101	99	100					21																	32638780		2203	4300	6503	31560651	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.509C>T	21.37:g.32638780G>A	ENSP00000286827:p.Ser170Phe		31560651	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574479	0.86542	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036;ENST00000455508	T;T	0.60040	0.35;0.22	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.996	T	0.75476	-0.3304	10	0.87932	D	0	.	19.5961	0.95538	0.0:0.0:1.0:0.0	.	170;170;170	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	F	170;11;170;170	ENSP00000286827:S170F;ENSP00000441570:S170F	ENSP00000286827:S170F	S	-	2	0	TIAM1	31560651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.870000	0.92336	2.621000	0.88768	0.591000	0.81541	TCC		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		A	32638780	G	A	32638780	3	1	169	1	0	0	0	0	1	0	0	0	15890	1174	41	2	4366	2	TIAM1	21	32638780	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09		32638780	15491115	178	9712											
C21orf63	59271	genome.wustl.edu	37	21	33887206	33887206	+	Silent	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr21:33887206A>G	ENST00000300255.2	+	8	1505	c.1032A>G	c.(1030-1032)agA>agG	p.R344R	EVA1C_ENST00000382699.3_Silent_p.R341R|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Silent_p.R296R	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	344						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R344R(1)									TGGTCATCAGAGAGTCCTGTG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	21											59	57	58					21																	33887206		2203	4300	6503	32809077	SO:0001819	synonymous_variant	59271			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 64", "chromosome 21 open reading frame 63", "family with sequence similarity 176, member C"	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1032A>G	21.37:g.33887206A>G			32809077	A6ND58|Q8IXZ0	Silent	SNP	ENST00000300255.2	37	CCDS13614.1																																																																																				0.622	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		G	33887206	A	G	33887206	2	3	169	1	0	0	0	0	0	0	0	1	2131	301	11	4		4	C21orf63	21	33887206	Silent	SNP	A	TCGA-23-1022-01A-02W-0488-09	1248426	33887206	14242689	179	9713											
XKR3	150165	genome.wustl.edu	37	22	17265233	17265233	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr22:17265233A>G	ENST00000331428.5	-	4	758	c.656T>C	c.(655-657)aTc>aCc	p.I219T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I219T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCTGATCTGGATGGCCAGTAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	22											16	16	16					22																	17265233		1466	3479	4945	15645233	SO:0001583	missense	150165			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.656T>C	22.37:g.17265233A>G	ENSP00000331704:p.Ile219Thr		15645233	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	16.01	3.001119	0.54254	.	.	ENSG00000172967	ENST00000331428	T	0.64991	-0.13	0.771	0.771	0.18504	.	0.132226	0.47455	U	0.000232	T	0.53367	0.1792	L	0.46157	1.445	0.39338	D	0.965532	D	0.59767	0.986	P	0.49301	0.606	T	0.50432	-0.8829	10	0.22706	T	0.39	.	5.862	0.18754	1.0:0.0:0.0:0.0	.	219	Q5GH77	XKR3_HUMAN	T	219	ENSP00000331704:I219T	ENSP00000331704:I219T	I	-	2	0	XKR3	15645233	1.000000	0.71417	0.818000	0.32626	0.116000	0.19942	5.834000	0.69361	0.630000	0.30394	0.246000	0.17985	ATC		0.403	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		G	17265233	A	G	17265233	3	3	169	1	0	0	0	0	1	0	0	0	17432	333	12	4	727	4	XKR3	22	17265233	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09		17265233	34039333	180	9714											
RGL4	266747	genome.wustl.edu	37	22	24038801	24038801	+	Splice_Site	SNP	G	G	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr22:24038801G>T	ENST00000290691.5	+	7	2257	c.1087G>T	c.(1087-1089)Gcg>Tcg	p.A363S	RGL4_ENST00000401461.1_Splice_Site_p.A227S|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	363	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A363S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CACCTGGCAGGCGGGGAGCTT	0.652																																																1	Substitution - Missense(1)	ovary(1)	22											38	39	39					22																	24038801		2202	4299	6501	22368801	SO:0001630	splice_region_variant	266747				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1087-1G>T	22.37:g.24038801G>T			22368801	Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	CCDS13811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.69|12.69	2.014901|2.014901	0.35511|0.35511	.|.	.|.	ENSG00000159496|ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392|ENST00000452208	T;T;T|.	0.33865|.	1.39;1.71;1.57|.	1.94|1.94	-1.87|-1.87	0.07737|0.07737	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);|.	0.858235|.	0.09731|.	U|.	0.763093|.	T|T	0.18841|0.18841	0.0452|0.0452	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P;P;P;P|.	0.39424|.	0.536;0.536;0.536;0.673|.	B;B;B;B|.	0.39027|.	0.229;0.288;0.288;0.245|.	T|T	0.26608|0.26608	-1.0098|-1.0098	10|5	0.34782|.	T|.	0.22|.	.|.	3.6957|3.6957	0.08364|0.08364	0.2994:0.2091:0.4914:0.0|0.2994:0.2091:0.4914:0.0	.|.	227;227;363;363|.	E7EW79;Q495L8;E9PH87;Q8IZJ4|.	.;.;.;RGDSR_HUMAN|.	S|V	227;363;363;363|44	ENSP00000383951:A227S;ENSP00000290691:A363S;ENSP00000402142:A363S|.	ENSP00000290691:A363S|.	A|G	+|+	1|2	0|0	RGL4|RGL4	22368801|22368801	0.994000|0.994000	0.37717|0.37717	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	2.228000|2.228000	0.42981|0.42981	-0.411000|-0.411000	0.07530|0.07530	-0.385000|-0.385000	0.06624|0.06624	GCG|GGC		0.652	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615	Missense_Mutation	T	24038801	G	T	24038801	5	4	169	1	0	0	0	0	0	0	1	0	13282	1217	42	3	1113	3	RGL4	22	24038801	Splice_Site	SNP	G	TCGA-23-1022-01A-02W-0488-09	6773568	24038801	27265765	181	9715											
PLA2G6	8398	genome.wustl.edu	37	22	38509582	38509582	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr22:38509582C>T	ENST00000332509.3	-	15	2297	c.2114G>A	c.(2113-2115)tGt>tAt	p.C705Y	PLA2G6_ENST00000335539.3_Missense_Mutation_p.C651Y|BAIAP2L2_ENST00000332536.5_5'Flank|PLA2G6_ENST00000402064.1_Missense_Mutation_p.C651Y|BAIAP2L2_ENST00000381669.3_5'Flank	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	705					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.C705Y(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GACATCCACACAGGTCACAGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	22											131	111	118					22																	38509582		2203	4300	6503	36839528	SO:0001583	missense	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.2114G>A	22.37:g.38509582C>T	ENSP00000333142:p.Cys705Tyr		36839528	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419281	0.62622	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.75589	-0.95;-0.95;-0.95	4.36	4.36	0.52297	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.110594	0.64402	D	0.000007	T	0.73969	0.3655	L	0.29908	0.895	0.80722	D	1	D;P	0.65815	0.995;0.894	P;P	0.58172	0.834;0.535	T	0.75382	-0.3337	10	0.49607	T	0.09	-7.4005	12.0905	0.53724	0.0:0.6623:0.3377:0.0	.	651;705	O60733-2;O60733	.;PA2G6_HUMAN	Y	705;566;651;651	ENSP00000333142:C705Y;ENSP00000335149:C651Y;ENSP00000386100:C651Y	ENSP00000333142:C705Y	C	-	2	0	PLA2G6	36839528	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.557000	0.73937	1.965000	0.57142	0.561000	0.74099	TGT		0.592	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		T	38509582	C	T	38509582	3	4	169	1	0	0	0	0	1	0	0	0	12008	478	17	2	318	2	PLA2G6	22	38509582	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	14470781	38509582	12794984	182	9716											
WBP2NL	164684	genome.wustl.edu	37	22	42415741	42415741	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chr22:42415741C>G	ENST00000328823.9	+	3	278	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V	WBP2NL_ENST00000543212.1_Missense_Mutation_p.L9V	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	83	GRAM.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)	p.L83V(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GATGACGAACCTCACTGTTGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	22											239	218	225					22																	42415741		2203	4300	6503	40745687	SO:0001583	missense	164684			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"postacrosomal sheath WW domain-binding protein"	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.247C>G	22.37:g.42415741C>G	ENSP00000332983:p.Leu83Val		40745687	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	C	5.310	0.242606	0.10077	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	D;T	0.83335	-1.71;1.45	4.86	3.83	0.44106	GRAM (1);	0.581392	0.15696	N	0.249197	T	0.58963	0.2159	N	0.02751	-0.505	0.21627	N	0.99962	B	0.26775	0.159	B	0.27262	0.078	T	0.49244	-0.8960	10	0.06891	T	0.86	-4.2251	8.9917	0.36028	0.0:0.0913:0.0:0.9087	.	83	Q6ICG8	WBP2L_HUMAN	V	83;9	ENSP00000332983:L83V;ENSP00000442447:L9V	ENSP00000332983:L83V	L	+	1	0	WBP2NL	40745687	1.000000	0.71417	0.247000	0.24249	0.023000	0.10783	4.351000	0.59398	0.899000	0.36444	-0.302000	0.09304	CTC		0.393	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		G	42415741	C	G	42415741	3	3	169	1	0	0	0	0	1	0	0	0	17260	681	24	3	257	3	WBP2NL	22	42415741	Missense_Mutation	SNP	C	TCGA-23-1022-01A-02W-0488-09	3906159	42415741	8888825	183	9717											
KLHL34	257240	genome.wustl.edu	37	X	21674169	21674169	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chrX:21674169T>G	ENST00000379499.2	-	1	2279	c.1738A>C	c.(1738-1740)Aag>Cag	p.K580Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	580						extracellular space (GO:0005615)		p.K580Q(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TCCCGCCACTTGAGGCCGCCC	0.697																																																1	Substitution - Missense(1)	ovary(1)	X											21	19	19					X																	21674169		2198	4293	6491	21584090	SO:0001583	missense	257240			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1738A>C	X.37:g.21674169T>G	ENSP00000368813:p.Lys580Gln		21584090		Missense_Mutation	SNP	ENST00000379499.2	37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709785	0.68730	.	.	ENSG00000185915	ENST00000379499	T	0.72835	-0.69	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.063652	0.64402	D	0.000008	T	0.76392	0.3981	L	0.44542	1.39	0.33634	D	0.606424	D	0.69078	0.997	P	0.60789	0.879	D	0.83479	0.0063	10	0.54805	T	0.06	.	14.3873	0.66953	0.0:0.0:0.0:1.0	.	580	Q8N239	KLH34_HUMAN	Q	580	ENSP00000368813:K580Q	ENSP00000368813:K580Q	K	-	1	0	KLHL34	21584090	1.000000	0.71417	0.987000	0.45799	0.963000	0.63663	5.959000	0.70339	1.973000	0.57446	0.486000	0.48141	AAG		0.697	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		G	21674169	T	G	21674169	3	3	169	1	0	0	0	0	1	0	0	0	8387	1821	63	5	200	5	KLHL34	23	21674169	Missense_Mutation	SNP	T	TCGA-23-1022-01A-02W-0488-09		21674169	133596391	184	9718											
ACOT9	23597	genome.wustl.edu	37	X	23731273	23731273	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chrX:23731273G>C	ENST00000336430.7	-	8	745	c.614C>G	c.(613-615)gCt>gGt	p.A205G	ACOT9_ENST00000492081.1_Intron|ACOT9_ENST00000379295.1_Missense_Mutation_p.A145G|ACOT9_ENST00000379303.5_Missense_Mutation_p.A214G	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	205					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)	p.A205G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AGAATCACGAGCCACCATTAC	0.299																																																1	Substitution - Missense(1)	ovary(1)	X											81	68	73					X																	23731273		2203	4300	6503	23641194	SO:0001583	missense	23597			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.614C>G	X.37:g.23731273G>C	ENSP00000336580:p.Ala205Gly		23641194	B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854545	0.91355	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295;ENST00000473710	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.82	4.82	0.62117	.	0.093606	0.64402	D	0.000001	T	0.61739	0.2371	M	0.88512	2.96	0.80722	D	1	P;P;P	0.42296	0.699;0.659;0.775	P;P;P	0.53035	0.533;0.524;0.716	T	0.69942	-0.5008	10	0.62326	D	0.03	-7.0552	17.4533	0.87599	0.0:0.0:1.0:0.0	.	172;205;214	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	G	214;205;145;131	ENSP00000368605:A214G;ENSP00000336580:A205G;ENSP00000368597:A145G;ENSP00000420490:A131G	ENSP00000336580:A205G	A	-	2	0	ACOT9	23641194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.055000	0.93873	2.134000	0.65973	0.525000	0.51046	GCT		0.299	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		C	23731273	G	C	23731273	3	2	169	1	0	0	0	0	1	0	0	0	157	971	34	3	737	3	ACOT9	23	23731273	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	2057104	23731273	131539287	185	9719											
BCOR	54880	genome.wustl.edu	37	X	39922071	39922071	+	Silent	SNP	G	G	A			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chrX:39922071G>A	ENST00000378444.4	-	9	4329	c.4101C>T	c.(4099-4101)caC>caT	p.H1367H	BCOR_ENST00000378463.1_Silent_p.H210H|BCOR_ENST00000342274.4_Silent_p.H1333H|BCOR_ENST00000378455.4_Silent_p.H1315H|BCOR_ENST00000397354.3_Silent_p.H1333H	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1367					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H1333H(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGGGATCAAGTGTTTGGTTT	0.567			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		1	Substitution - coding silent(1)	ovary(1)	X											133	99	110					X																	39922071		2202	4300	6502	39807015	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4101C>T	X.37:g.39922071G>A			39807015	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314227	0.05422	.	.	ENSG00000183337	ENST00000427012	.	.	.	5.88	-0.292	0.12839	.	.	.	.	.	T	0.60143	0.2246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53528	-0.8426	4	.	.	.	-28.0923	11.9777	0.53103	0.4003:0.0:0.5997:0.0	.	.	.	.	I	62	.	.	T	-	2	0	BCOR	39807015	1.000000	0.71417	0.432000	0.26747	0.572000	0.35998	2.983000	0.49345	-0.593000	0.05844	-0.912000	0.02778	ACT		0.567	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		A	39922071	G	A	39922071	2	1	169	1	0	0	0	0	0	0	0	1	1386	1020	36	2		2	BCOR	23	39922071	Silent	SNP	G	TCGA-23-1022-01A-02W-0488-09	16190798	39922071	115348489	186	9720											
LPAR4	2846	genome.wustl.edu	37	X	78010950	78010950	+	Missense_Mutation	SNP	G	G	A	rs372050796		TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chrX:78010950G>A	ENST00000435339.3	+	2	970	c.584G>A	c.(583-585)cGt>cAt	p.R195H		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	195					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.R195H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTCTCCAAACGTGTCTGGAAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											87	78	81					X																	78010950		2202	4299	6501	77897606	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.584G>A	X.37:g.78010950G>A	ENSP00000408205:p.Arg195His		77897606	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529279	0.44969	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37411	1.2;1.2	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.261041	0.37348	N	0.002130	T	0.32941	0.0846	N	0.16862	0.45	0.36077	D	0.842523	D	0.54772	0.968	P	0.51701	0.677	T	0.40270	-0.9572	10	0.36615	T	0.2	.	14.3788	0.66897	0.0:0.0:1.0:0.0	.	195	Q99677	LPAR4_HUMAN	H	195	ENSP00000408205:R195H;ENSP00000362398:R195H	ENSP00000362398:R195H	R	+	2	0	LPAR4	77897606	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.973000	0.49264	1.938000	0.56188	0.415000	0.27848	CGT		0.418	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		A	78010950	G	A	78010950	3	1	169	1	0	0	0	0	1	0	0	0	8907	1145	40	1	586	1	LPAR4	23	78010950	Missense_Mutation	SNP	G	TCGA-23-1022-01A-02W-0488-09	38088879	78010950	77259610	187	9721											
ZCCHC18	644353	genome.wustl.edu	37	X	103359003	103359003	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1022-01A-02W-0488-09	TCGA-23-1022-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	160a0e7d-315e-4de3-a7d4-928412fd909c	6bd506d5-4f1a-4f51-a71f-e453196b245a	g.chrX:103359003A>T	ENST00000537356.3	+	2	1615	c.201A>T	c.(199-201)caA>caT	p.Q67H	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	67							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										GGCTGATCCAAGTCAATGAGG	0.498																																																0			X											69	57	61					X																	103359003		692	1591	2283	103245659	SO:0001583	missense	644353			AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	32459	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7B"		"zinc finger, CCHC domain containing 12 pseudogene 1"				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.201A>T	X.37:g.103359003A>T	ENSP00000473824:p.Gln67His		103245659		Missense_Mutation	SNP	ENST00000537356.3	37																																																																																					0.498	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978		T	103359003	A	T	103359003	3	4	169	1	0	0	0	0	1	0	0	0	17586	69	3	5	203	5	ZCCHC18	23	103359003	Missense_Mutation	SNP	A	TCGA-23-1022-01A-02W-0488-09	25348053	103359003	51911557	188	9722											
ZNF642	339559	hgsc.bcm.edu	37	1	40945126	40945126	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr1:40945126delG	ENST00000372706.1	+	2	1099	c.93delG	c.(91-93)ctgfs	p.L31fs	ZFP69_ENST00000372705.3_Frame_Shift_Del_p.L31fs			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	31	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W32fs*4(1)									GGGCGCCCCTGTGGGAGGATG	0.547																																																1	Deletion - Frameshift(1)	ovary(1)	1											42	45	44					1																	40945126		2203	4300	6503	40717713	SO:0001589	frameshift_variant	339559			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.93delG	1.37:g.40945126delG	ENSP00000361791:p.Leu31fs		40717713	Q5SWM5|Q6ZWK8	Frame_Shift_Del	DEL	ENST00000372706.1	37	CCDS30686.1																																																																																				0.547	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		-	40945126	G	-	40945126	7	5	170	1	0	1	0	1	0	0	0	0	18058	1364	48	0	95	0	ZNF642	1	40945126	Frame_Shift_Del	DEL	G	TCGA-23-1023-01A-03W-0484-10		40945126	208305495	1	9723											
GJA5	2702	hgsc.bcm.edu	37	1	147231245	147231245	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr1:147231245C>T	ENST00000271348.2	-	2	263	c.102G>A	c.(100-102)atG>atA	p.M34I	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.M34I	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	34					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.M34I(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGCACGAGCATACGGAATA	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											101	100	100					1																	147231245		2203	4300	6503	145697869	SO:0001583	missense	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.102G>A	1.37:g.147231245C>T	ENSP00000271348:p.Met34Ile		145697869	Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	6.091	0.385006	0.11524	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.98313	-4.86;-4.86;-4.86	5.78	4.87	0.63330	Connexin, N-terminal (1);	0.080516	0.85682	N	0.000000	D	0.85279	0.5660	N	0.01473	-0.845	0.54753	D	0.999988	B	0.20052	0.041	B	0.24269	0.052	T	0.80975	-0.1142	10	0.02654	T	1	.	14.8613	0.70384	0.0:0.9314:0.0:0.0686	.	34	P36382	CXA5_HUMAN	I	34	ENSP00000271348:M34I;ENSP00000358240:M34I;ENSP00000407645:M34I	ENSP00000271348:M34I	M	-	3	0	GJA5	145697869	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.637000	0.54324	1.452000	0.47756	0.563000	0.77884	ATG		0.557	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		T	147231245	C	T	147231245	3	4	170	1	0	0	0	0	1	0	0	0	6404	710	25	2	978	2	GJA5	1	147231245	Missense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10	106286119	147231245	102019376	2	9724											
TNR	7143	hgsc.bcm.edu	37	1	175372583	175372583	+	Silent	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr1:175372583G>A	ENST00000367674.2	-	4	1377	c.669C>T	c.(667-669)agC>agT	p.S223S	TNR_ENST00000263525.2_Silent_p.S223S			Q92752	TENR_HUMAN	tenascin R	223	Cys-rich.|EGF-like 2.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S223S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCTGTACTCGCTGTCACAGA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	1											108	107	107					1																	175372583		2203	4300	6503	173639206	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.669C>T	1.37:g.175372583G>A			173639206	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.627	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175372583	G	A	175372583	2	1	170	1	0	0	0	0	0	0	0	1	16338	1078	38	1		1	TNR	1	175372583	Silent	SNP	G	TCGA-23-1023-01A-03W-0484-10	28141338	175372583	73878038	3	9725											
EIF2AK3	9451	hgsc.bcm.edu	37	2	88857412	88857412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr2:88857412G>A	ENST00000303236.3	-	17	3494	c.3193C>T	c.(3193-3195)Cga>Tga	p.R1065*	EIF2AK3_ENST00000419748.1_Nonsense_Mutation_p.R914*|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1065	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.R1064*(1)		ovary(3)	3						GCTTCAGGTCGTTCCATGGGG	0.413																																					GBM(138;671 1851 16235 39058 45249)											1	Substitution - Nonsense(1)	ovary(1)	2											161	154	157					2																	88857412		2203	4300	6503	88638527	SO:0001587	stop_gained	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3193C>T	2.37:g.88857412G>A	ENSP00000307235:p.Arg1065*		88638527	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Nonsense_Mutation	SNP	ENST00000303236.3	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	40	8.503850	0.98838	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	.	.	.	5.65	3.7	0.42460	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.379	14.4007	0.67044	0.0:0.0:0.5777:0.4223	.	.	.	.	X	914;1065;914;944	.	ENSP00000307235:R1065X	R	-	1	2	EIF2AK3	88638527	0.996000	0.38824	0.940000	0.37924	0.866000	0.49608	1.785000	0.38684	1.483000	0.48342	0.655000	0.94253	CGA		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		A	88857412	G	A	88857412	4	1	170	1	0	0	0	0	0	1	0	0	4998	1153	40	1	161	1	EIF2AK3	2	88857412	Nonsense_Mutation	SNP	G	TCGA-23-1023-01A-03W-0484-10		88857412	154341961	4	9726											
CTDSP1	58190	hgsc.bcm.edu	37	2	219266330	219266330	+	Silent	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr2:219266330C>T	ENST00000273062.2	+	2	447	c.111C>T	c.(109-111)ggC>ggT	p.G37G	RP11-378A13.2_ENST00000608367.1_RNA|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000443891.1_Silent_p.G37G|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	37					negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.G37G(1)		NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCCGGGGCATCCTCCACT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	2											52	54	53					2																	219266330		2203	4300	6503	218974574	SO:0001819	synonymous_variant	58190			AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	21614	protein-coding gene	gene with protein product	"nuclear LIM interactor-interacting factor", "small CTD phosphatase 1"	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.111C>T	2.37:g.219266330C>T			218974574	C9IYG0|Q7Z5Q3|Q7Z5Q4	Silent	SNP	ENST00000273062.2	37	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704998	0.30232	.	.	ENSG00000144579	ENST00000452977;ENST00000428361;ENST00000431127	.	.	.	5.08	1.89	0.25635	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48210	-0.9055	4	.	.	.	-33.484	7.8771	0.29599	0.1281:0.6885:0.1113:0.0722	.	.	.	.	V	23;39;107	.	.	A	+	2	0	CTDSP1	218974574	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.627000	0.24506	0.544000	0.28883	-0.126000	0.14955	GCA		0.637	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		T	219266330	C	T	219266330	2	4	170	1	0	0	0	0	0	0	0	1	4003	697	25	2		2	CTDSP1	2	219266330	Silent	SNP	C	TCGA-23-1023-01A-03W-0484-10	130408918	219266330	23933043	5	9727											
COL6A3	1293	hgsc.bcm.edu	37	2	238303599	238303599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr2:238303599C>A	ENST00000295550.4	-	3	792	c.340G>T	c.(340-342)Gga>Tga	p.G114*	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.G114*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.G114*|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	114	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G114*(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGATTGGTTCCCCCAATATAA	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	2											92	97	95					2																	238303599		2203	4300	6503	237968338	SO:0001587	stop_gained	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.340G>T	2.37:g.238303599C>A	ENSP00000295550:p.Gly114*		237968338	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	40	8.048532	0.98627	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	.	.	.	4.81	4.81	0.61882	.	0.000000	0.46145	U	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9023	0.88907	0.0:1.0:0.0:0.0	.	.	.	.	X	114	.	ENSP00000295550:G114X	G	-	1	0	COL6A3	237968338	1.000000	0.71417	0.870000	0.34147	0.434000	0.31775	5.904000	0.69886	2.208000	0.71279	0.455000	0.32223	GGA		0.463	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238303599	C	A	238303599	4	1	170	1	0	0	0	0	0	1	0	0	3701	632	22	3	9408	3	COL6A3	2	238303599	Nonsense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10	19037269	238303599	4895774	6	9728											
XRN1	54464	hgsc.bcm.edu	37	3	142140334	142140334	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr3:142140334A>T	ENST00000264951.4	-	9	1136	c.1019T>A	c.(1018-1020)cTt>cAt	p.L340H	XRN1_ENST00000463916.1_Missense_Mutation_p.L340H|XRN1_ENST00000544157.1_Missense_Mutation_p.L130H|XRN1_ENST00000392981.2_Missense_Mutation_p.L340H|RNU1-100P_ENST00000365255.1_RNA	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	340					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L340H(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTTTCACAAGGTATTTCTC	0.328																																																1	Substitution - Missense(1)	ovary(1)	3											60	59	59					3																	142140334		2202	4299	6501	143623024	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1019T>A	3.37:g.142140334A>T	ENSP00000264951:p.Leu340His		143623024	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231265	0.79688	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T	0.50277	0.75;0.76	5.27	5.27	0.74061	.	0.174438	0.51477	D	0.000089	T	0.76219	0.3957	M	0.93150	3.385	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999	D;D;D;D;D	0.76071	0.986;0.952;0.95;0.987;0.971	D	0.83361	0.0002	10	0.87932	D	0	-17.5749	15.1465	0.72657	1.0:0.0:0.0:0.0	.	130;340;201;340;340	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	H	340;340;340;130	ENSP00000264951:L340H;ENSP00000376707:L340H	ENSP00000264951:L340H	L	-	2	0	XRN1	143623024	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.730000	0.91510	2.118000	0.64928	0.377000	0.23210	CTT		0.328	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		T	142140334	A	T	142140334	3	4	170	1	0	0	0	0	1	0	0	0	17459	72	3	5	4237	5	XRN1	3	142140334	Missense_Mutation	SNP	A	TCGA-23-1023-01A-03W-0484-10		142140334	55882096	7	9729											
FNDC3B	64778	hgsc.bcm.edu	37	3	171965365	171965365	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr3:171965365C>T	ENST00000336824.4	+	5	406	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	FNDC3B_ENST00000416957.1_Missense_Mutation_p.P103S|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P103S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	103					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.P103S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGTGGTCACACCCCAGTCTCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											168	148	155					3																	171965365		2203	4300	6503	173448059	SO:0001583	missense	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.307C>T	3.37:g.171965365C>T	ENSP00000338523:p.Pro103Ser		173448059	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129952	0.94473	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.983	T	0.62334	-0.6876	10	0.87932	D	0	-14.3507	20.2192	0.98319	0.0:1.0:0.0:0.0	.	103;103	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	S	103;103;103;76	ENSP00000411242:P103S;ENSP00000338523:P103S;ENSP00000389094:P103S;ENSP00000389064:P76S	ENSP00000338523:P103S	P	+	1	0	FNDC3B	173448059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.219000	0.78000	2.780000	0.95670	0.655000	0.94253	CCC		0.458	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		T	171965365	C	T	171965365	3	4	170	1	0	0	0	0	1	0	0	0	5970	507	18	2	321	2	FNDC3B	3	171965365	Missense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10	29825031	171965365	26057065	8	9730											
PDCL2	132954	hgsc.bcm.edu	37	4	56428648	56428648	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr4:56428648A>C	ENST00000295645.4	-	5	596	c.494T>G	c.(493-495)tTt>tGt	p.F165C		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	165	Thioredoxin fold. {ECO:0000250}.							p.F165C(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTTATACACAAAAATTGTTGG	0.318																																																1	Substitution - Missense(1)	ovary(1)	4											71	67	68					4																	56428648		1800	4076	5876	56123405	SO:0001583	missense	132954			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.494T>G	4.37:g.56428648A>C	ENSP00000295645:p.Phe165Cys		56123405	A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	CCDS47059.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319908	0.81469	.	.	ENSG00000163440	ENST00000295645	T	0.43294	0.95	5.85	5.85	0.93711	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.084010	0.52532	D	0.000075	T	0.67496	0.2899	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71699	-0.4514	10	0.66056	D	0.02	-14.9925	16.2236	0.82274	1.0:0.0:0.0:0.0	.	165	Q8N4E4	PDCL2_HUMAN	C	165	ENSP00000295645:F165C	ENSP00000295645:F165C	F	-	2	0	PDCL2	56123405	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.591000	0.90824	2.235000	0.73313	0.402000	0.26972	TTT		0.318	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		C	56428648	A	C	56428648	3	2	170	1	0	0	0	0	1	0	0	0	11627	14	1	5	239	5	PDCL2	4	56428648	Missense_Mutation	SNP	A	TCGA-23-1023-01A-03W-0484-10		56428648	134725628	9	9731											
CENPE	1062	hgsc.bcm.edu	37	4	104065688	104065688	+	Silent	SNP	A	A	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr4:104065688A>G	ENST00000265148.3	-	33	5034	c.4945T>C	c.(4945-4947)Ttg>Ctg	p.L1649L	CENPE_ENST00000380026.3_Silent_p.L1624L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1649					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L1649L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTCCTTCAAGTGTTCTATT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	4											118	113	115					4																	104065688		2203	4299	6502	104285137	SO:0001819	synonymous_variant	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4945T>C	4.37:g.104065688A>G			104285137	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																				0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	104065688	A	G	104065688	2	3	170	1	0	0	0	0	0	0	0	1	3230	69	3	4		4	CENPE	4	104065688	Silent	SNP	A	TCGA-23-1023-01A-03W-0484-10	47637040	104065688	87088588	10	9732											
CTNND2	1501	hgsc.bcm.edu	37	5	10973590	10973590	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr5:10973590G>A	ENST00000304623.8	-	22	3842	c.3653C>T	c.(3652-3654)cCg>cTg	p.P1218L	CTNND2_ENST00000511377.1_Missense_Mutation_p.P1127L|CTNND2_ENST00000359640.2_Missense_Mutation_p.P1160L|CTNND2_ENST00000503622.1_Missense_Mutation_p.P881L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.P785L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1218					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P1218L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGGGAGGCCGGGTAGTGGCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											50	56	54					5																	10973590		2203	4300	6503	11026590	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3653C>T	5.37:g.10973590G>A	ENSP00000307134:p.Pro1218Leu		11026590	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181097	0.78677	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	D;D;D;D;T	0.82526	-1.52;-1.62;-1.56;-1.54;-1.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.992	D	0.88846	0.3316	10	0.87932	D	0	-23.6005	20.0522	0.97631	0.0:0.0:1.0:0.0	.	881;810;1218	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	L	1218;1160;1127;313;785;881	ENSP00000307134:P1218L;ENSP00000352661:P1160L;ENSP00000426510:P1127L;ENSP00000391155:P785L;ENSP00000426887:P881L	ENSP00000307134:P1218L	P	-	2	0	CTNND2	11026590	1.000000	0.71417	0.969000	0.41365	0.954000	0.61252	9.476000	0.97823	2.737000	0.93849	0.563000	0.77884	CCG		0.542	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		A	10973590	G	A	10973590	3	1	170	1	0	0	0	0	1	0	0	0	4020	1116	39	1	28	1	CTNND2	5	10973590	Missense_Mutation	SNP	G	TCGA-23-1023-01A-03W-0484-10		10973590	169941670	11	9733											
TTC33	23548	hgsc.bcm.edu	37	5	40716408	40716408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr5:40716408C>A	ENST00000337702.4	-	5	780	c.628G>T	c.(628-630)Gag>Tag	p.E210*	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	210								p.E210*(1)		NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GCAACAATCTCATCACTTTCA	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	5											120	106	111					5																	40716408		2203	4300	6503	40752165	SO:0001587	stop_gained	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"Tetratricopeptide (TTC) repeat domain containing"	29959	protein-coding gene	gene with protein product	"osmosis responsive factor"					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.628G>T	5.37:g.40716408C>A	ENSP00000338533:p.Glu210*		40752165	B2R6G0|O95105	Nonsense_Mutation	SNP	ENST00000337702.4	37	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879925	0.91740	.	.	ENSG00000113638	ENST00000337702	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-23.8489	19.4191	0.94713	0.0:1.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000338533:E210X	E	-	1	0	TTC33	40752165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.294000	0.72738	2.594000	0.87642	0.650000	0.86243	GAG		0.408	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		A	40716408	C	A	40716408	4	1	170	1	0	0	0	0	0	1	0	0	16702	835	29	3	164	3	TTC33	5	40716408	Nonsense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10	29742818	40716408	140198852	12	9734											
MAS1L	116511	hgsc.bcm.edu	37	6	29455532	29455532	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr6:29455532C>T	ENST00000377127.3	-	1	206	c.148G>A	c.(148-150)Gtc>Atc	p.V50I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	50					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V50I(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGAAGAAAGACGCCACAGAGC	0.498																																					NSCLC(153;755 1987 3859 11251 32945)											2	Substitution - Missense(2)	ovary(2)	6											89	88	88					6																	29455532		2203	4300	6503	29563511	SO:0001583	missense	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.148G>A	6.37:g.29455532C>T	ENSP00000366331:p.Val50Ile		29563511	Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	4.103	0.017108	0.07959	.	.	ENSG00000204687	ENST00000377127	T	0.03745	3.82	0.675	-1.35	0.09114	.	.	.	.	.	T	0.00524	0.0017	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44513	-0.9323	8	0.20519	T	0.43	.	.	.	.	.	50	P35410	MAS1L_HUMAN	I	50	ENSP00000366331:V50I	ENSP00000366331:V50I	V	-	1	0	MAS1L	29563511	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.652000	0.01988	-0.526000	0.06383	0.388000	0.25769	GTC		0.498	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		T	29455532	C	T	29455532	3	4	170	1	0	0	0	0	1	0	0	0	9321	536	19	1	990	1	MAS1L	6	29455532	Missense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10		29455532	141659535	13	9735											
LAMA2	3908	hgsc.bcm.edu	37	6	129663610	129663610	+	Silent	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr6:129663610C>T	ENST00000421865.2	+	30	4483	c.4434C>T	c.(4432-4434)aaC>aaT	p.N1478N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1478	Laminin EGF-like 16. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.N1478N(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTCCAGTAACAAGTAAGATT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	6											118	112	114					6																	129663610		2203	4300	6503	129705303	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4434C>T	6.37:g.129663610C>T			129705303	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129663610	C	T	129663610	2	4	170	1	0	0	0	0	0	0	0	1	8606	477	17	2		2	LAMA2	6	129663610	Silent	SNP	C	TCGA-23-1023-01A-03W-0484-10	100208078	129663610	41451457	14	9736											
C7orf10	79783	hgsc.bcm.edu	37	7	40488936	40488936	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr7:40488936G>T	ENST00000335693.4	+	10	911	c.888G>T	c.(886-888)caG>caT	p.Q296H	C7orf10_ENST00000401647.2_Missense_Mutation_p.Q248H|C7orf10_ENST00000309930.5_Missense_Mutation_p.Q296H	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		296					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.Q296H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAATAACCAGCAGTTTGCCA	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											111	106	107					7																	40488936		1832	4090	5922	40455461	SO:0001583	missense	79783																														ENST00000335693.4:c.888G>T	7.37:g.40488936G>T	ENSP00000338475:p.Gln296His		40455461	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.781|6.781	0.513084|0.513084	0.12944|0.12944	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.76060|.	-0.99;-0.99;-0.99|.	5.4|5.4	-2.79|-2.79	0.05841|0.05841	CoA-transferase family III domain (2);|.	0.254327|.	0.38897|.	N|.	0.001528|.	T|T	0.43033|0.43033	0.1229|0.1229	L|L	0.45698|0.45698	1.435|1.435	0.80722|0.80722	D|D	1|1	B;B;B|.	0.15473|.	0.001;0.006;0.013|.	B;B;B|.	0.20577|.	0.014;0.03;0.018|.	T|T	0.37291|0.37291	-0.9712|-0.9712	10|5	0.54805|.	T|.	0.06|.	-5.5528|-5.5528	3.1437|3.1437	0.06464|0.06464	0.3575:0.1245:0.3964:0.1215|0.3575:0.1245:0.3964:0.1215	.|.	248;296;259|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	H|I	296;248;296|291	ENSP00000312054:Q296H;ENSP00000385222:Q248H;ENSP00000338475:Q296H|.	ENSP00000312054:Q296H|.	Q|S	+|+	3|2	2|0	C7orf10|C7orf10	40455461|40455461	0.860000|0.860000	0.29831|0.29831	0.982000|0.982000	0.44146|0.44146	0.101000|0.101000	0.19017|0.19017	-0.231000|-0.231000	0.09069|0.09069	-0.401000|-0.401000	0.07644|0.07644	-1.107000|-1.107000	0.02091|0.02091	CAG|AGC		0.373	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			T	40488936	G	T	40488936	3	4	170	1	0	0	0	0	1	0	0	0	2376	962	34	3	815	3	C7orf10	7	40488936	Missense_Mutation	SNP	G	TCGA-23-1023-01A-03W-0484-10		40488936	118649727	15	9737											
EPHB4	2050	hgsc.bcm.edu	37	7	100410422	100410422	+	Missense_Mutation	SNP	C	C	T	rs529340542		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr7:100410422C>T	ENST00000358173.3	-	12	2533	c.2065G>A	c.(2065-2067)Gtc>Atc	p.V689I	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.V689I	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	689	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V689I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGAATCATGACGGGCATGCTG	0.627																																					GBM(200;2113 3072 25865 52728)											1	Substitution - Missense(1)	ovary(1)	7											88	84	85					7																	100410422		2203	4300	6503	100248358	SO:0001583	missense	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2065G>A	7.37:g.100410422C>T	ENSP00000350896:p.Val689Ile		100248358	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048239	0.55110	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.61859	0.07;0.07	4.79	4.79	0.61399	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000166	T	0.53916	0.1826	N	0.02802	-0.49	0.54753	D	0.999981	D;D	0.89917	0.996;1.0	D;D	0.79108	0.97;0.992	T	0.67730	-0.5595	10	0.56958	D	0.05	.	15.6721	0.77286	0.0:1.0:0.0:0.0	.	689;689	Q96L35;P54760	.;EPHB4_HUMAN	I	689	ENSP00000353833:V689I;ENSP00000350896:V689I	ENSP00000350896:V689I	V	-	1	0	EPHB4	100248358	0.997000	0.39634	0.934000	0.37439	0.028000	0.11728	3.649000	0.54417	2.368000	0.80403	0.650000	0.86243	GTC		0.627	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		T	100410422	C	T	100410422	3	4	170	1	0	0	0	0	1	0	0	0	5177	536	19	1	922	1	EPHB4	7	100410422	Missense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10	59921486	100410422	58728241	16	9738											
FGFR1	2260	hgsc.bcm.edu	37	8	38275796	38275796	+	Silent	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr8:38275796G>A	ENST00000447712.2	-	10	2321	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V	FGFR1_ENST00000397091.5_Silent_p.V458V|FGFR1_ENST00000356207.5_Silent_p.V371V|FGFR1_ENST00000397113.2_Silent_p.V458V|FGFR1_ENST00000397103.1_Silent_p.V371V|FGFR1_ENST00000532791.1_Silent_p.V458V|FGFR1_ENST00000397108.4_Silent_p.V458V|FGFR1_ENST00000425967.3_Silent_p.V491V|FGFR1_ENST00000326324.6_Silent_p.V369V|FGFR1_ENST00000341462.5_Silent_p.V460V|FGFR1_ENST00000335922.5_Silent_p.V450V	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	460					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.V460V(2)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CATACTCAGAGACCCCTGCTA	0.542		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	2	Substitution - coding silent(2)	ovary(2)	8											73	78	77					8																	38275796		2025	4176	6201	38394953	SO:0001819	synonymous_variant	2260			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1380C>T	8.37:g.38275796G>A			38394953	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	CCDS6107.2																																																																																				0.542	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	38275796	G	A	38275796	2	1	170	1	0	0	0	0	0	0	0	1	5863	929	33	2		2	FGFR1	8	38275796	Silent	SNP	G	TCGA-23-1023-01A-03W-0484-10		38275796	108088226	17	9739											
ADAM2	2515	hgsc.bcm.edu	37	8	39613302	39613302	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr8:39613302T>G	ENST00000265708.4	-	16	1845	c.1742A>C	c.(1741-1743)cAt>cCt	p.H581P	AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000347580.4_Missense_Mutation_p.H562P|ADAM2_ENST00000379853.2_Missense_Mutation_p.H425P|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	581	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H581P(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCTGTCTGCATGATCACTGGC	0.333																																																1	Substitution - Missense(1)	ovary(1)	8											98	95	96					8																	39613302		2203	4300	6503	39732459	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1742A>C	8.37:g.39613302T>G	ENSP00000265708:p.His581Pro		39732459	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	6.125	0.391266	0.11581	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708	T;T;T	0.21734	1.99;1.99;1.99	4.67	2.1	0.27182	ADAM, cysteine-rich (2);	.	.	.	.	T	0.20941	0.0504	L	0.41415	1.275	0.09310	N	1	P;B;B	0.48998	0.918;0.0;0.009	P;B;B	0.49140	0.601;0.012;0.007	T	0.09596	-1.0667	8	.	.	.	.	5.2195	0.15362	0.1798:0.0:0.1875:0.6327	.	425;562;581	Q6P2G0;Q99965-2;Q99965	.;.;ADAM2_HUMAN	P	562;425;581	ENSP00000343854:H562P;ENSP00000369182:H425P;ENSP00000265708:H581P	.	H	-	2	0	ADAM2	39732459	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.087000	0.11215	0.196000	0.20367	0.533000	0.62120	CAT		0.333	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		G	39613302	T	G	39613302	3	3	170	1	0	0	0	0	1	0	0	0	241	1464	51	5	485	5	ADAM2	8	39613302	Missense_Mutation	SNP	T	TCGA-23-1023-01A-03W-0484-10	1337506	39613302	106750720	18	9740											
CA9	768	hgsc.bcm.edu	37	9	35679874	35679874	+	Silent	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr9:35679874G>A	ENST00000378357.4	+	8	1193	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	363	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.L363L(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTGACACCCTGTGGGGACCTG	0.597																																																1	Substitution - coding silent(1)	ovary(1)	9											75	65	68					9																	35679874		2203	4300	6503	35669874	SO:0001819	synonymous_variant	768			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.1089G>A	9.37:g.35679874G>A			35669874	Q5T4R1	Silent	SNP	ENST00000378357.4	37	CCDS6585.1																																																																																				0.597	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		A	35679874	G	A	35679874	2	1	170	1	0	0	0	0	0	0	0	1	2524	1364	48	2		2	CA9	9	35679874	Silent	SNP	G	TCGA-23-1023-01A-03W-0484-10		35679874	105533557	19	9741											
VPS13A	23230	hgsc.bcm.edu	37	9	79929533	79929533	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr9:79929533C>G	ENST00000360280.3	+	37	4625	c.4365C>G	c.(4363-4365)aaC>aaG	p.N1455K	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.N1455K|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1455K|VPS13A_ENST00000376636.3_Missense_Mutation_p.N1416K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1455					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.N1455K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CATTAAAAAACTGTATTTTAG	0.294																																																1	Substitution - Missense(1)	ovary(1)	9											55	58	57					9																	79929533		2200	4294	6494	79119353	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4365C>G	9.37:g.79929533C>G	ENSP00000353422:p.Asn1455Lys		79119353	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630887	0.46944	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46063	1.06;0.88;0.96;1.06	5.59	0.64	0.17752	.	0.375086	0.25747	N	0.028561	T	0.32496	0.0831	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.47762	0.696;0.704;0.9;0.9	B;B;B;B	0.42522	0.358;0.231;0.39;0.39	T	0.04737	-1.0930	10	0.42905	T	0.14	.	5.748	0.18130	0.1212:0.5295:0.0:0.3493	.	1416;1455;1455;1455	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	1455;1416;1455;1455	ENSP00000365821:N1455K;ENSP00000365823:N1416K;ENSP00000353422:N1455K;ENSP00000349985:N1455K	ENSP00000349985:N1455K	N	+	3	2	VPS13A	79119353	0.169000	0.23002	0.997000	0.53966	0.991000	0.79684	-0.521000	0.06245	0.057000	0.16193	0.557000	0.71058	AAC		0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		G	79929533	C	G	79929533	3	3	170	1	0	0	0	0	1	0	0	0	17189	564	20	3	4511	3	VPS13A	9	79929533	Missense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10	44249659	79929533	61283898	20	9742											
TDRD7	23424	hgsc.bcm.edu	37	9	100190856	100190856	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr9:100190856G>C	ENST00000355295.4	+	2	404	c.109G>C	c.(109-111)Gac>Cac	p.D37H	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	37	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.D37H(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CTTGACTGGAGACTGGATCCC	0.488																																																1	Substitution - Missense(1)	ovary(1)	9											110	104	106					9																	100190856		2203	4300	6503	99230677	SO:0001583	missense	23424			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.109G>C	9.37:g.100190856G>C	ENSP00000347444:p.Asp37His		99230677	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313728	0.81358	.	.	ENSG00000196116	ENST00000355295	T	0.41400	1.0	4.75	4.75	0.60458	.	0.047132	0.85682	D	0.000000	T	0.48132	0.1483	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.64410	0.925	T	0.53049	-0.8493	10	0.66056	D	0.02	-24.7046	16.0463	0.80724	0.0:0.0:1.0:0.0	.	37	Q8NHU6	TDRD7_HUMAN	H	37	ENSP00000347444:D37H	ENSP00000347444:D37H	D	+	1	0	TDRD7	99230677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.659000	0.83766	2.563000	0.86464	0.591000	0.81541	GAC		0.488	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		C	100190856	G	C	100190856	3	2	170	1	0	0	0	0	1	0	0	0	15735	942	33	3	111	3	TDRD7	9	100190856	Missense_Mutation	SNP	G	TCGA-23-1023-01A-03W-0484-10	20261323	100190856	41022575	21	9743											
ATRNL1	26033	hgsc.bcm.edu	37	10	117059759	117059759	+	Splice_Site	SNP	T	T	A	rs530243727		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr10:117059759T>A	ENST00000355044.3	+	16	2755		c.e16+2		ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACCTGTTGGTAAGTAGTCCA	0.398																																																1	Unknown(1)	ovary(1)	10											59	61	60					10																	117059759		2203	4300	6503	117049749	SO:0001630	splice_region_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2629+2T>A	10.37:g.117059759T>A			117049749	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978173	0.74360	.	.	ENSG00000107518	ENST00000355044;ENST00000526373	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8142	0.78586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRNL1	117049749	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.950000	0.87804	2.197000	0.70478	0.477000	0.44152	.		0.398	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	A	117059759	T	A	117059759	5	1	170	1	0	0	0	0	0	0	1	0	1207	1652	57	5	2693	5	ATRNL1	10	117059759	Splice_Site	SNP	T	TCGA-23-1023-01A-03W-0484-10		117059759	18474988	22	9744											
INPP5F	79892	hgsc.bcm.edu	37	10	121586929	121586929	+	IGR	SNP	G	G	A	rs563867547		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr10:121586929G>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Silent_p.S402S|INPP5F_ENST00000361976.2_Silent_p.S1012S	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.S1012S(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CTCGGCCATCGCAATTAGATG	0.463													g|||	1	0.000199681	0	0	5008	,	,		21259	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	10											129	123	125					10																	121586929		2203	4300	6503	121576919	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586929G>A			121576919	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	CCDS7617.1																																																																																				0.463	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		A	121586929	G	A	121586929	1	1	170	0	1	0	0	0	0	0	0	0	7758	1074	38	1		1	INPP5F	10	121586929	IGR	SNP	G	TCGA-23-1023-01A-03W-0484-10	4527170	121586929	13947818	23	9745											
OR5B17	219965	hgsc.bcm.edu	37	11	58126179	58126179	+	Missense_Mutation	SNP	C	C	T	rs372264787		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr11:58126179C>T	ENST00000357377.3	-	1	363	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A122T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACACTGCTGCGTAGCGGTCA	0.478																																																1	Substitution - Missense(1)	ovary(1)	11						C	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	122	110	114		364	1.4	0	11		114	3,8587	3.0+/-9.4	0,3,4292	no	missense	OR5B17	NM_001005489.1	58	0,4,6492	TT,TC,CC		0.0349,0.0227,0.0308	benign	122/315	58126179	4,12988	2201	4295	6496	57882755	SO:0001583	missense	219965			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.364G>A	11.37:g.58126179C>T	ENSP00000349945:p.Ala122Thr		57882755	Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	c	11.79	1.743809	0.30865	2.27E-4	3.49E-4	ENSG00000197786	ENST00000357377	T	0.00402	7.56	3.6	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	1.037490	0.07744	N	0.947442	T	0.00328	0.0010	L	0.48174	1.505	0.09310	N	1	P	0.44776	0.843	B	0.34536	0.185	T	0.50808	-0.8784	10	0.56958	D	0.05	-0.0087	7.6295	0.28230	0.0:0.7521:0.0:0.2479	.	122	Q8NGF7	OR5BH_HUMAN	T	122	ENSP00000349945:A122T	ENSP00000349945:A122T	A	-	1	0	OR5B17	57882755	0.000000	0.05858	0.008000	0.14137	0.610000	0.37248	-0.861000	0.04268	0.082000	0.17018	0.461000	0.40582	GCA		0.478	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		T	58126179	C	T	58126179	3	4	170	1	0	0	0	0	1	0	0	0	11149	768	27	1	582	1	OR5B17	11	58126179	Missense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10		58126179	76880337	24	9746											
MMP1	4312	hgsc.bcm.edu	37	11	102663432	102663432	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr11:102663432C>G	ENST00000315274.6	-	7	1004	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	313					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E313Q(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	AAATTGAGCTCAACTTCCGGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	11											119	119	119					11																	102663432		2203	4299	6502	102168642	SO:0001583	missense	4312			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.937G>C	11.37:g.102663432C>G	ENSP00000322788:p.Glu313Gln		102168642	P08156	Missense_Mutation	SNP	ENST00000315274.6	37	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	c	18.43	3.622298	0.66787	.	.	ENSG00000196611	ENST00000315274	T	0.02812	4.15	6.16	6.16	0.99307	Hemopexin/matrixin (2);	0.259487	0.33346	N	0.005016	T	0.05868	0.0153	L	0.60012	1.86	0.58432	D	0.999996	D	0.56287	0.975	P	0.44946	0.465	T	0.04678	-1.0934	10	0.66056	D	0.02	.	12.6979	0.57014	0.0:0.9251:0.0:0.0749	.	313	P03956	MMP1_HUMAN	Q	313	ENSP00000322788:E313Q	ENSP00000322788:E313Q	E	-	1	0	MMP1	102168642	0.995000	0.38212	0.990000	0.47175	0.502000	0.33828	5.027000	0.64109	2.937000	0.99478	0.650000	0.86243	GAG		0.408	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		G	102663432	C	G	102663432	3	3	170	1	0	0	0	0	1	0	0	0	9648	835	29	3	488	3	MMP1	11	102663432	Missense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10	44537253	102663432	32343084	25	9747											
KCNJ1	3758	hgsc.bcm.edu	37	11	128709991	128709991	+	Frame_Shift_Del	DEL	A	A	-			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr11:128709991delA	ENST00000392664.2	-	2	321	c.205delT	c.(205-207)tggfs	p.W69fs	KCNJ1_ENST00000392665.2_Frame_Shift_Del_p.W50fs|KCNJ1_ENST00000392666.1_Frame_Shift_Del_p.W50fs|KCNJ1_ENST00000324036.3_Frame_Shift_Del_p.W50fs|KCNJ1_ENST00000440599.2_Frame_Shift_Del_p.W50fs	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	69					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.W69fs*13(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ACCGTTGTCCAGATGTCCACA	0.443																																																1	Deletion - Frameshift(1)	ovary(1)	11											189	176	180					11																	128709991		2201	4297	6498	128215201	SO:0001589	frameshift_variant	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.205delT	11.37:g.128709991delA	ENSP00000376432:p.Trp69fs		128215201	B2RMR4|Q6LD67	Frame_Shift_Del	DEL	ENST00000392664.2	37	CCDS8476.1																																																																																				0.443	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		-	128709991	A	-	128709991	7	5	170	1	0	1	0	1	0	0	0	0	8043	188	7	0	974	0	KCNJ1	11	128709991	Frame_Shift_Del	DEL	A	TCGA-23-1023-01A-03W-0484-10	26046559	128709991	6296525	26	9748											
SLC2A14	144195	hgsc.bcm.edu	37	12	7970608	7970608	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr12:7970608A>C	ENST00000543909.1	-	15	1922	c.1163T>G	c.(1162-1164)tTt>tGt	p.F388C	SLC2A14_ENST00000340749.5_Missense_Mutation_p.F365C|SLC2A14_ENST00000535295.1_Missense_Mutation_p.F279C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.F403C|SLC2A14_ENST00000542505.1_Missense_Mutation_p.F29C|SLC2A14_ENST00000542546.1_Missense_Mutation_p.F279C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.F365C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.F388C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	388					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.F388C(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AATACAGACAAAGCTCATCCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											40	41	41					12																	7970608		2203	4300	6503	7861875	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1163T>G	12.37:g.7970608A>C	ENSP00000440480:p.Phe388Cys		7861875	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	A	8.286	0.816601	0.16607	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	D;D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	3.12	-0.717	0.11208	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169871	0.53938	D	0.000049	T	0.69424	0.3109	L	0.28556	0.865	0.38894	D	0.957177	B;B;B;B	0.15141	0.012;0.004;0.001;0.003	B;B;B;B	0.20577	0.03;0.021;0.012;0.021	T	0.60627	-0.7226	10	0.87932	D	0	.	6.4599	0.21950	0.3434:0.0:0.0:0.6566	.	403;279;365;388	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	C	365;388;365;29;388;279;279;403	ENSP00000340450:F365C;ENSP00000440480:F388C;ENSP00000407287:F365C;ENSP00000438484:F29C;ENSP00000379834:F388C;ENSP00000440492:F279C;ENSP00000443903:F279C;ENSP00000445929:F403C	ENSP00000340450:F365C	F	-	2	0	SLC2A14	7861875	1.000000	0.71417	0.902000	0.35471	0.417000	0.31264	4.515000	0.60489	0.190000	0.20209	0.164000	0.16699	TTT		0.463	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		C	7970608	A	C	7970608	3	2	170	1	0	0	0	0	1	0	0	0	14546	14	1	5	407	5	SLC2A14	12	7970608	Missense_Mutation	SNP	A	TCGA-23-1023-01A-03W-0484-10		7970608	125881287	27	9749											
MLL2	8085	hgsc.bcm.edu	37	12	49425260	49425260	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr12:49425260C>A	ENST00000301067.7	-	39	13227	c.13228G>T	c.(13228-13230)Gca>Tca	p.A4410S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4410					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A4140S(1)									AGTTGGGATGCCTCAGGCACC	0.602																																																1	Substitution - Missense(1)	ovary(1)	12											32	32	32					12																	49425260		2004	4176	6180	47711527	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13228G>T	12.37:g.49425260C>A	ENSP00000301067:p.Ala4410Ser		47711527	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	6.842	0.524650	0.13066	.	.	ENSG00000167548	ENST00000301067	T	0.78481	-1.18	5.57	1.55	0.23275	.	0.222761	0.23226	N	0.050503	T	0.55242	0.1908	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49872	-0.8893	10	0.87932	D	0	.	7.0637	0.25139	0.1586:0.4437:0.3977:0.0	.	4410	O14686	MLL2_HUMAN	S	4410	ENSP00000301067:A4410S	ENSP00000301067:A4410S	A	-	1	0	MLL2	47711527	0.002000	0.14202	0.883000	0.34634	0.925000	0.55904	0.054000	0.14205	0.082000	0.17018	-0.165000	0.13383	GCA		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49425260	C	A	49425260	3	1	170	1	0	0	0	0	1	0	0	0	9621	739	26	3	3449	3	MLL2	12	49425260	Missense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10	41454652	49425260	84426635	28	9750											
ITGB7	3695	hgsc.bcm.edu	37	12	53585702	53585702	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr12:53585702A>G	ENST00000267082.5	-	15	2488	c.2257T>C	c.(2257-2259)Tat>Cat	p.Y753H	ITGB7_ENST00000550743.2_Missense_Mutation_p.Y605H|ITGB7_ENST00000338737.4_Missense_Mutation_p.Y605H|ITGB7_ENST00000422257.3_Missense_Mutation_p.Y753H	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	753					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.Y753H(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGGCGGTCATAGATTTCCACC	0.597																																																1	Substitution - Missense(1)	ovary(1)	12											56	57	57					12																	53585702		2203	4300	6503	51871969	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2257T>C	12.37:g.53585702A>G	ENSP00000267082:p.Tyr753His		51871969	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247410	0.39697	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.86230	-2.09;-2.09;-2.09	4.86	4.86	0.63082	Integrin beta subunit, cytoplasmic (2);	0.000000	0.38548	N	0.001645	T	0.77370	0.4120	N	0.20574	0.59	0.32126	N	0.587357	P	0.36199	0.543	B	0.39660	0.306	T	0.74368	-0.3688	10	0.02654	T	1	.	13.7769	0.63059	1.0:0.0:0.0:0.0	.	753	P26010	ITB7_HUMAN	H	753;753;605	ENSP00000408741:Y753H;ENSP00000267082:Y753H;ENSP00000345501:Y605H	ENSP00000267082:Y753H	Y	-	1	0	ITGB7	51871969	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.980000	0.49321	1.970000	0.57323	0.533000	0.62120	TAT		0.597	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			G	53585702	A	G	53585702	3	3	170	1	0	0	0	0	1	0	0	0	7900	420	15	4	147	4	ITGB7	12	53585702	Missense_Mutation	SNP	A	TCGA-23-1023-01A-03W-0484-10	4160442	53585702	80266193	29	9751											
TMEM132D	121256	hgsc.bcm.edu	37	12	129558988	129558988	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr12:129558988T>A	ENST00000422113.2	-	9	3058	c.2732A>T	c.(2731-2733)aAa>aTa	p.K911I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.K449I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	911					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.K911I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTCAGCCCTTTGGATGCCTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											132	115	121					12																	129558988		2203	4300	6503	128124941	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2732A>T	12.37:g.129558988T>A	ENSP00000408581:p.Lys911Ile		128124941	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304271	0.40795	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.15017	2.46;2.46	4.21	-0.0458	0.13850	.	0.161832	0.41500	D	0.000874	T	0.22003	0.0530	L	0.53249	1.67	0.30599	N	0.76071	D;P	0.53885	0.963;0.896	P;P	0.53809	0.735;0.555	T	0.10177	-1.0641	9	.	.	.	-9.7941	7.4063	0.26993	0.0:0.662:0.0:0.338	.	911;449	Q14C87;Q14C87-2	T132D_HUMAN;.	I	449;911	ENSP00000374092:K449I;ENSP00000408581:K911I	.	K	-	2	0	TMEM132D	128124941	0.992000	0.36948	0.119000	0.21687	0.272000	0.26649	3.100000	0.50275	0.134000	0.18681	0.383000	0.25322	AAA		0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129558988	T	A	129558988	3	1	170	1	0	0	0	0	1	0	0	0	16047	1841	64	5	571	5	TMEM132D	12	129558988	Missense_Mutation	SNP	T	TCGA-23-1023-01A-03W-0484-10	75973286	129558988	4292907	30	9752											
MNAT1	4331	hgsc.bcm.edu	37	14	61285490	61285490	+	Silent	SNP	A	A	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr14:61285490A>G	ENST00000261245.4	+	6	713	c.612A>G	c.(610-612)agA>agG	p.R204R	MNAT1_ENST00000539616.2_Intron	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	204					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)	p.R204R(1)		NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ATAAAGATAGATCTACCCAAT	0.363								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - coding silent(1)	ovary(1)	14											77	77	77					14																	61285490		2203	4300	6503	60355243	SO:0001819	synonymous_variant	4331			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"RING-type (C3HC4) zinc fingers", "General transcription factor IIH complex subunits"	7181	protein-coding gene	gene with protein product	"CDK-activating kinase assembly factor"	602659	"menage a trois 1 (CAK assembly factor)", "menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.612A>G	14.37:g.61285490A>G			60355243	G3V1U8|Q15817|Q6ICQ7	Silent	SNP	ENST00000261245.4	37	CCDS9750.1																																																																																				0.363	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431		G	61285490	A	G	61285490	2	3	170	1	0	0	0	0	0	0	0	1	9674	330	12	4		4	MNAT1	14	61285490	Silent	SNP	A	TCGA-23-1023-01A-03W-0484-10		61285490	46064050	31	9753											
KCNK10	54207	hgsc.bcm.edu	37	14	88693873	88693873	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr14:88693873C>G	ENST00000340700.5	-	4	963	c.512G>C	c.(511-513)gGg>gCg	p.G171A	KCNK10_ENST00000319231.5_Missense_Mutation_p.G176A|KCNK10_ENST00000312350.5_Missense_Mutation_p.G176A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	171					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G171A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGCAATATTCCCATACCCTGG	0.393																																																1	Substitution - Missense(1)	ovary(1)	14											81	89	86					14																	88693873		2203	4300	6503	87763626	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.512G>C	14.37:g.88693873C>G	ENSP00000343104:p.Gly171Ala		87763626	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910219	0.92107	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.82893	-1.66;-1.66;-1.66	5.91	5.91	0.95273	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94917	0.8070	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	171;176;176	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	A	171;176;176	ENSP00000343104:G171A;ENSP00000310568:G176A;ENSP00000312811:G176A	ENSP00000310568:G176A	G	-	2	0	KCNK10	87763626	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GGG		0.393	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		G	88693873	C	G	88693873	3	3	170	1	0	0	0	0	1	0	0	0	8059	623	22	3	1120	3	KCNK10	14	88693873	Missense_Mutation	SNP	C	TCGA-23-1023-01A-03W-0484-10	27408383	88693873	18655667	32	9754											
TP53	7157	hgsc.bcm.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	C	rs587781525		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr17:7577096T>C	ENST00000269305.4	-	8	1031	c.842A>G	c.(841-843)gAc>gGc	p.D281G	TP53_ENST00000445888.2_Missense_Mutation_p.D281G|TP53_ENST00000420246.2_Missense_Mutation_p.D281G|TP53_ENST00000455263.2_Missense_Mutation_p.D281G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.D281G|TP53_ENST00000413465.2_Intron	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TGTGCGCCGGTCTCTCCCAGG	0.552		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"	44	Substitution - Missense(18)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(8)|upper_aerodigestive_tract(7)|breast(5)|lung(5)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|stomach(2)|urinary_tract(2)|oesophagus(1)	17	GRCh37	CM004343|CM056068	TP53	M							82	70	74					17																	7577096		2203	4300	6503	7517821	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.842A>G	17.37:g.7577096T>C	ENSP00000269305:p.Asp281Gly		7517821	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	.	.	.	.	.	.	.	.	.	.	T	28.5	4.928501	0.92389	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99871	-7.35;-7.35;-7.35;-7.35;-7.35;-7.35	5.13	5.13	0.70059	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	0.99876	0.9941	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.97110	0.997;1.0;0.996;0.996	D	0.96385	0.9284	10	0.87932	D	0	-25.6697	12.9367	0.58319	0.0:0.0:0.0:1.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	281;281;281;281;281;270;149	ENSP00000352610:D281G;ENSP00000269305:D281G;ENSP00000398846:D281G;ENSP00000391127:D281G;ENSP00000391478:D281G;ENSP00000425104:D149G	ENSP00000269305:D281G	D	-	2	0	TP53	7517821	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577096	T	C	7577096	3	2	170	1	0	0	0	0	1	0	0	0	16381	1667	58	4	444	4	TP53	17	7577096	Missense_Mutation	SNP	T	TCGA-23-1023-01A-03W-0484-10		7577096	73618114	33	9755											
FBXL20	84961	hgsc.bcm.edu	37	17	37425079	37425079	+	Splice_Site	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr17:37425079C>T	ENST00000264658.6	-	12	1194		c.e12+1		FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site|FBXL20_ENST00000583610.1_Splice_Site	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20						behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.?(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TACAATCTTACCTGAACACAC	0.333																																																1	Unknown(1)	ovary(1)	17											135	129	131					17																	37425079		2203	4300	6503	34678605	SO:0001630	splice_region_variant	84961			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.933+1G>A	17.37:g.37425079C>T			34678605	A8K729|Q38J52	Splice_Site	SNP	ENST00000264658.6	37	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518841	0.85495	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.834	0.88691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXL20	34678605	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.747000	0.85070	2.303000	0.77524	0.650000	0.86243	.		0.333	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875	Intron	T	37425079	C	T	37425079	5	4	170	1	0	0	0	0	0	0	1	0	5717	521	18	2	392	2	FBXL20	17	37425079	Splice_Site	SNP	C	TCGA-23-1023-01A-03W-0484-10	29847983	37425079	43770131	34	9756											
CDK5RAP1	51654	hgsc.bcm.edu	37	20	31984680	31984680	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr20:31984680G>T	ENST00000357886.4	-	2	344	c.191C>A	c.(190-192)aCt>aAt	p.T64N	CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.T64N|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.T64N|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.T64N			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	64	CDK5 activation inhibition.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.T64N(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						ATGTTGAAAAGTCGGTCCAGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	20											83	84	84					20																	31984680		2203	4300	6503	31448341	SO:0001583	missense	51654			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.191C>A	20.37:g.31984680G>T	ENSP00000350558:p.Thr64Asn		31448341	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37		.	.	.	.	.	.	.	.	.	.	G	8.329	0.826109	0.16749	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.42	4.45	0.53987	.	0.329618	0.35555	N	0.003133	T	0.36663	0.0975	L	0.46157	1.445	0.21841	N	0.999511	B;B;B;B;B;B	0.30634	0.007;0.288;0.007;0.007;0.003;0.004	B;B;B;B;B;B	0.32533	0.006;0.147;0.006;0.006;0.006;0.014	T	0.27054	-1.0085	9	0.38643	T	0.18	-12.0512	11.2526	0.49034	0.0:0.0:0.8181:0.1819	.	64;64;64;64;64;64	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3	.;.;CK5P1_HUMAN;.;.;.	N	64	.	ENSP00000341840:T64N	T	-	2	0	CDK5RAP1	31448341	0.969000	0.33509	0.439000	0.26833	0.645000	0.38454	2.115000	0.41921	1.475000	0.48197	0.491000	0.48974	ACT		0.512	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		T	31984680	G	T	31984680	3	4	170	1	0	0	0	0	1	0	0	0	3145	1029	36	3	1624	3	CDK5RAP1	20	31984680	Missense_Mutation	SNP	G	TCGA-23-1023-01A-03W-0484-10		31984680	31040840	35	9757											
PRPF6	57473	hgsc.bcm.edu	37	20	62641616	62641616	+	Intron	SNP	A	A	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr20:62641616A>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.E417V|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E417V(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAAGAACCTGAAGATGCTAGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											111	100	104					20																	62641616		2203	4300	6503	62112060	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+38441T>A	20.37:g.62641616A>T			62112060	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698609	0.88830	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.38560	1.13;1.13	5.99	5.99	0.97316	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	H	0.94582	3.555	0.80722	D	1	D;P	0.59767	0.986;0.955	P;P	0.61592	0.891;0.642	T	0.80810	-0.1216	10	0.66056	D	0.02	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	417;417	O94906-2;O94906	.;PRP6_HUMAN	V	417	ENSP00000266079:E417V;ENSP00000446216:E417V	ENSP00000266079:E417V	E	+	2	0	PRPF6	62112060	1.000000	0.71417	0.866000	0.34008	0.456000	0.32438	8.994000	0.93529	2.291000	0.77112	0.533000	0.62120	GAA		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		T	62641616	A	T	62641616	1	4	170	0	1	0	0	0	0	0	0	0	12577	246	9	5		5	PRPF6	20	62641616	Intron	SNP	A	TCGA-23-1023-01A-03W-0484-10	30656936	62641616	383904	36	9758											
SREBF2	6721	hgsc.bcm.edu	37	22	42269825	42269825	+	Silent	SNP	C	C	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr22:42269825C>G	ENST00000361204.4	+	5	1057	c.891C>G	c.(889-891)acC>acG	p.T297T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	297	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T297T(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCAGTGGGACCATTCTGACCA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	22											52	39	44					22																	42269825		2203	4300	6503	40599771	SO:0001819	synonymous_variant	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.891C>G	22.37:g.42269825C>G			40599771	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	CCDS14023.1																																																																																				0.522	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		G	42269825	C	G	42269825	2	3	170	1	0	0	0	0	0	0	0	1	15144	581	21	3		3	SREBF2	22	42269825	Silent	SNP	C	TCGA-23-1023-01A-03W-0484-10		42269825	9034741	37	9759											
ARSF	416	hgsc.bcm.edu	37	X	3002505	3002505	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chrX:3002505G>A	ENST00000381127.1	+	6	849	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	ARSF_ENST00000359361.2_Missense_Mutation_p.G210S|ARSF_ENST00000537104.1_Missense_Mutation_p.G210S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	210					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.G210S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGCTGAGCGGCTGGGTCTC	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											133	108	116					X																	3002505		2203	4300	6503	3012505	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.628G>A	X.37:g.3002505G>A	ENSP00000370519:p.Gly210Ser		3012505	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035265	0.35893	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93659	-3.26;-3.26;-3.26	3.44	-3.03	0.05429	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.326203	0.27139	N	0.020744	D	0.88481	0.6448	M	0.64997	1.995	0.09310	N	1	P	0.44309	0.832	B	0.43478	0.421	T	0.80710	-0.1261	10	0.38643	T	0.18	.	2.4257	0.04459	0.2605:0.3568:0.2751:0.1076	.	210	P54793	ARSF_HUMAN	S	210	ENSP00000370519:G210S;ENSP00000445594:G210S;ENSP00000352319:G210S	ENSP00000352319:G210S	G	+	1	0	ARSF	3012505	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.579000	0.02123	-0.448000	0.07128	-0.273000	0.10243	GGC		0.522	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			A	3002505	G	A	3002505	3	1	170	1	0	0	0	0	1	0	0	0	991	1116	39	1	646	1	ARSF	23	3002505	Missense_Mutation	SNP	G	TCGA-23-1023-01A-03W-0484-10		3002505	152268055	38	9760											
RBM10	8241	hgsc.bcm.edu	37	X	47028833	47028833	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chrX:47028833G>A	ENST00000377604.3	+	3	879	c.137G>A	c.(136-138)cGc>cAc	p.R46H	RBM10_ENST00000345781.6_Missense_Mutation_p.R46H|RBM10_ENST00000329236.7_Missense_Mutation_p.R46H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	46					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.R46H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCATATCCTCGCGAGTATGGC	0.637																																					Melanoma(171;120 2705 19495 39241)											1	Substitution - Missense(1)	ovary(1)	X											91	58	69					X																	47028833		2203	4300	6503	46913777	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.137G>A	X.37:g.47028833G>A	ENSP00000366829:p.Arg46His		46913777	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907271	0.72868	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20069	2.52;2.1;2.34	4.65	4.65	0.58169	.	0.263378	0.31936	N	0.006822	T	0.30355	0.0762	N	0.24115	0.695	0.26362	N	0.977035	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;P;D;D;D	0.76071	0.984;0.902;0.955;0.984;0.987	T	0.06162	-1.0842	10	0.49607	T	0.09	-10.6527	12.3651	0.55224	0.0:0.0:1.0:0.0	.	46;111;46;46;46	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	46	ENSP00000366829:R46H;ENSP00000328848:R46H;ENSP00000329659:R46H	ENSP00000328848:R46H	R	+	2	0	RBM10	46913777	1.000000	0.71417	0.766000	0.31476	0.734000	0.41952	6.182000	0.71995	2.056000	0.61249	0.513000	0.50165	CGC		0.637	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		A	47028833	G	A	47028833	3	1	170	1	0	0	0	0	1	0	0	0	13114	1087	38	1	143	1	RBM10	23	47028833	Missense_Mutation	SNP	G	TCGA-23-1023-01A-03W-0484-10	44026328	47028833	108241727	39	9761											
SNX12	29934	hgsc.bcm.edu	37	X	70282710	70282710	+	Silent	SNP	A	A	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chrX:70282710A>G	ENST00000374274.3	-	2	371	c.255T>C	c.(253-255)gaT>gaC	p.D85D	SNX12_ENST00000276105.3_Silent_p.D81D|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	85	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)	p.D85D(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					ATACCTTGCTATCTCTCTCCA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	X											107	82	91					X																	70282710		2203	4300	6503	70199435	SO:0001819	synonymous_variant	29934			AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"Sorting nexins"	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.255T>C	X.37:g.70282710A>G			70199435	F8W8K5|Q8WUG9	Silent	SNP	ENST00000374274.3	37	CCDS14405.1																																																																																				0.483	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057094.1	NM_013346		G	70282710	A	G	70282710	2	3	170	1	0	0	0	0	0	0	0	1	14886	446	16	4		4	SNX12	23	70282710	Silent	SNP	A	TCGA-23-1023-01A-03W-0484-10	23253877	70282710	84987850	40	9762											
SMPDL3B	27293	hgsc.bcm.edu	37	1	28282473	28282473	+	Silent	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr1:28282473C>T	ENST00000373894.3	+	7	1076	c.885C>T	c.(883-885)agC>agT	p.S295S	SMPDL3B_ENST00000549094.1_Silent_p.S247S|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Silent_p.S295S	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	295					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.S295S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TCCCCATAAGCGCCATGTTCA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	1											75	68	70					1																	28282473		2203	4300	6503	28155060	SO:0001819	synonymous_variant	27293			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.885C>T	1.37:g.28282473C>T			28155060	B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	CCDS30655.1																																																																																				0.567	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		T	28282473	C	T	28282473	2	4	171	1	0	0	0	0	0	0	0	1	14812	767	27	1		1	SMPDL3B	1	28282473	Silent	SNP	C	TCGA-23-1024-01A-02W-0484-10		28282473	220968148	1	9763											
SESN2	83667	hgsc.bcm.edu	37	1	28599184	28599184	+	Silent	SNP	C	C	T	rs376476503		TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr1:28599184C>T	ENST00000253063.3	+	5	951	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	210					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F210F(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCCTTCGTGTTTGGCT	0.647																																																1	Substitution - coding silent(1)	ovary(1)	1						C		0,4406		0,0,2203	111	96	101		630	-6.5	0.5	1		101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SESN2	NM_031459.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		210/481	28599184	2,13004	2203	4300	6503	28471771	SO:0001819	synonymous_variant	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.630C>T	1.37:g.28599184C>T			28471771	Q5T7D0|Q96SI5	Silent	SNP	ENST00000253063.3	37	CCDS321.1																																																																																				0.647	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			T	28599184	C	T	28599184	2	4	171	1	0	0	0	0	0	0	0	1	14128	883	31	1		1	SESN2	1	28599184	Silent	SNP	C	TCGA-23-1024-01A-02W-0484-10	316711	28599184	220651437	2	9764											
NES	10763	hgsc.bcm.edu	37	1	156641953	156641953	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr1:156641953T>C	ENST00000368223.3	-	4	2159	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	676	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.E676G(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCAGTGGCTCTTGATTCTC	0.438																																																1	Substitution - Missense(1)	ovary(1)	1											56	51	53					1																	156641953		2203	4300	6503	154908577	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2027A>G	1.37:g.156641953T>C	ENSP00000357206:p.Glu676Gly		154908577	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433889	0.83776	.	.	ENSG00000132688	ENST00000368223	D	0.87491	-2.26	4.75	3.62	0.41486	.	0.000000	0.33057	N	0.005333	T	0.70535	0.3235	L	0.54323	1.7	0.09310	N	1	B	0.22683	0.073	B	0.17433	0.018	T	0.62728	-0.6793	10	0.39692	T	0.17	.	8.554	0.33469	0.0:0.092:0.0:0.908	.	676	P48681	NEST_HUMAN	G	676	ENSP00000357206:E676G	ENSP00000357206:E676G	E	-	2	0	NES	154908577	0.018000	0.18449	0.014000	0.15608	0.866000	0.49608	2.170000	0.42443	0.847000	0.35167	0.383000	0.25322	GAG		0.438	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		C	156641953	T	C	156641953	3	2	171	1	0	0	0	0	1	0	0	0	10337	1551	54	4	2842	4	NES	1	156641953	Missense_Mutation	SNP	T	TCGA-23-1024-01A-02W-0484-10	128042769	156641953	92608668	3	9765											
ACTN2	88	hgsc.bcm.edu	37	1	236918421	236918421	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr1:236918421G>A	ENST00000366578.4	+	17	2243	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	ACTN2_ENST00000542672.1_Missense_Mutation_p.D693N|ACTN2_ENST00000546208.1_Missense_Mutation_p.D187N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	693					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.D693N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAACAACATCGACAAGCTGGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											201	192	195					1																	236918421		2203	4300	6503	234985044	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2077G>A	1.37:g.236918421G>A	ENSP00000355537:p.Asp693Asn		234985044	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574577	0.65878	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.51574	0.7;0.7;0.7	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.47716	1.5	0.80722	D	1	D;B;D;D	0.76494	0.999;0.028;0.999;0.995	D;B;D;D	0.87578	0.998;0.057;0.998;0.987	T	0.61168	-0.7117	10	0.36615	T	0.2	.	17.4718	0.87648	0.0:0.0:1.0:0.0	.	478;693;463;693	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	693;693;187;462	ENSP00000443495:D693N;ENSP00000355537:D693N;ENSP00000438384:D187N	ENSP00000355537:D693N	D	+	1	0	ACTN2	234985044	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	9.835000	0.99442	2.100000	0.63781	0.557000	0.71058	GAC		0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		A	236918421	G	A	236918421	3	1	171	1	0	0	0	0	1	0	0	0	205	1058	37	1	2143	1	ACTN2	1	236918421	Missense_Mutation	SNP	G	TCGA-23-1024-01A-02W-0484-10	80276468	236918421	12332200	4	9766											
VN1R5	317705	hgsc.bcm.edu	37	1	247420027	247420027	+	IGR	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr1:247420027C>T								RP11-488L18.8 (14902 upstream) : Y_RNA (38109 downstream)																							CTGTTTTTCACACTAATGACT	0.463																																																0			1											241	225	230					1																	247420027		1903	4129	6032	245486650	SO:0001628	intergenic_variant	317705																															1.37:g.247420027C>T			245486650		Missense_Mutation	SNP		37																																																																																				0	0.463									T	247420027	C	T	247420027	1	4	171	0	1	0	0	0	0	0	0	0	17181	477	17	2		2	VN1R5	1	247420027	IGR	SNP	C	TCGA-23-1024-01A-02W-0484-10	10501606	247420027	1830594	5	9767											
SOS1	6654	hgsc.bcm.edu	37	2	39213013	39213013	+	Silent	SNP	G	G	C			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr2:39213013G>C	ENST00000426016.1	-	24	4040	c.3954C>G	c.(3952-3954)tcC>tcG	p.S1318S	SOS1_ENST00000402219.2_Silent_p.S1318S|SOS1_ENST00000395038.2_Silent_p.S1303S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1318					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1318S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTCTGTGCATGGATGGGTGTG	0.488									Noonan syndrome																																							1	Substitution - coding silent(1)	ovary(1)	2											270	229	243					2																	39213013		2203	4300	6503	39066517	SO:0001819	synonymous_variant	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3954C>G	2.37:g.39213013G>C			39066517	A8K2G3|B4DXG2	Silent	SNP	ENST00000426016.1	37	CCDS1802.1																																																																																				0.488	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		C	39213013	G	C	39213013	2	2	171	1	0	0	0	0	0	0	0	1	14939	1335	47	3		3	SOS1	2	39213013	Silent	SNP	G	TCGA-23-1024-01A-02W-0484-10		39213013	203986360	6	9768											
CYP8B1	1582	hgsc.bcm.edu	37	3	42916315	42916315	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr3:42916315C>T	ENST00000316161.4	-	1	1318	c.994G>A	c.(994-996)Ggt>Agt	p.G332S	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.G332S	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	332					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.G332S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGCAGGGCACCGAGTTTGAAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											39	38	38					3																	42916315		2203	4300	6503	42891319	SO:0001583	missense	1582			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.994G>A	3.37:g.42916315C>T	ENSP00000318867:p.Gly332Ser		42891319	B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.688369	0.00738	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01203	5.18;5.18	5.27	-1.48	0.08745	.	0.473932	0.22942	N	0.053764	T	0.00440	0.0014	N	0.00661	-1.28	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.002	T	0.46105	-0.9215	10	0.14252	T	0.57	-0.5105	10.7228	0.46050	0.0:0.4678:0.0:0.5322	.	332;332	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	S	332	ENSP00000404499:G332S;ENSP00000318867:G332S	ENSP00000318867:G332S	G	-	1	0	CYP8B1	42891319	0.006000	0.16342	0.000000	0.03702	0.008000	0.06430	0.480000	0.22244	-0.532000	0.06332	-1.434000	0.01081	GGT		0.597	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		T	42916315	C	T	42916315	3	4	171	1	0	0	0	0	1	0	0	0	4198	652	23	1	515	1	CYP8B1	3	42916315	Missense_Mutation	SNP	C	TCGA-23-1024-01A-02W-0484-10		42916315	155106115	7	9769											
COL7A1	1294	hgsc.bcm.edu	37	3	48605952	48605952	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr3:48605952C>T	ENST00000328333.8	-	104	7881	c.7774G>A	c.(7774-7776)Gca>Aca	p.A2592T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A2560T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2592	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2592T(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGATCCCTGCTGCACCAGGT	0.647																																																1	Substitution - Missense(1)	ovary(1)	3											27	28	27					3																	48605952		2203	4300	6503	48580956	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7774G>A	3.37:g.48605952C>T	ENSP00000332371:p.Ala2592Thr		48580956	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772930	0.31411	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93366	-3.21;-3.21	4.56	1.41	0.22369	.	0.760238	0.11190	N	0.590034	D	0.84611	0.5510	L	0.28608	0.87	0.24560	N	0.993973	B	0.14805	0.011	B	0.12837	0.008	T	0.68515	-0.5388	10	0.12766	T	0.61	.	2.4171	0.04438	0.2931:0.4598:0.1448:0.1023	.	2592	Q02388	CO7A1_HUMAN	T	2592;2560	ENSP00000332371:A2592T;ENSP00000412569:A2560T	ENSP00000332371:A2592T	A	-	1	0	COL7A1	48580956	0.000000	0.05858	0.995000	0.50966	0.822000	0.46500	-0.697000	0.05098	0.585000	0.29608	0.462000	0.41574	GCA		0.647	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		T	48605952	C	T	48605952	3	4	171	1	0	0	0	0	1	0	0	0	3704	797	28	2	1120	2	COL7A1	3	48605952	Missense_Mutation	SNP	C	TCGA-23-1024-01A-02W-0484-10	5689637	48605952	149416478	8	9770											
DAG1	1605	hgsc.bcm.edu	37	3	49568626	49568626	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr3:49568626G>T	ENST00000539901.1	+	3	1240	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	DAG1_ENST00000538711.1_Missense_Mutation_p.V228L|DAG1_ENST00000545947.1_Missense_Mutation_p.V228L|DAG1_ENST00000308775.2_Missense_Mutation_p.V228L|DAG1_ENST00000541308.1_Missense_Mutation_p.V228L|DAG1_ENST00000515359.2_Missense_Mutation_p.V228L	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	228	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.V228L(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATGAAATTAGTGCCGGTGGT	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											78	83	81					3																	49568626		2203	4300	6503	49543630	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.682G>T	3.37:g.49568626G>T	ENSP00000439334:p.Val228Leu		49543630	A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	8.279	0.815023	0.16607	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.92	5.05	0.67936	.	0.058901	0.64402	D	0.000003	T	0.56731	0.2005	N	0.05124	-0.11	0.40964	D	0.984642	B	0.29188	0.236	B	0.23852	0.049	T	0.56360	-0.7992	10	0.18710	T	0.47	-17.7946	14.3493	0.66688	0.0719:0.0:0.9281:0.0	.	228	Q14118	DAG1_HUMAN	L	228;228;228;228;228;228;27	ENSP00000440705:V228L;ENSP00000312435:V228L;ENSP00000442600:V228L;ENSP00000440590:V228L;ENSP00000439334:V228L;ENSP00000438421:V228L	ENSP00000312435:V228L	V	+	1	0	DAG1	49543630	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.891000	0.48617	1.525000	0.49052	-0.123000	0.14984	GTG		0.507	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			T	49568626	G	T	49568626	3	4	171	1	0	0	0	0	1	0	0	0	4225	1029	36	3	688	3	DAG1	3	49568626	Missense_Mutation	SNP	G	TCGA-23-1024-01A-02W-0484-10	962674	49568626	148453804	9	9771											
TRH	7200	hgsc.bcm.edu	37	3	129695772	129695772	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr3:129695772G>T	ENST00000302649.3	+	3	969	c.442G>T	c.(442-444)Gtc>Ttc	p.V148F	TRH_ENST00000507066.1_Missense_Mutation_p.V144F	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	148					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.V148F(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TGCATATGCTGTCCCGAAGCG	0.607																																					Esophageal Squamous(60;321 1330 17401 41911)											1	Substitution - Missense(1)	ovary(1)	3											50	48	48					3																	129695772		2203	4300	6503	131178462	SO:0001583	missense	7200				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.442G>T	3.37:g.129695772G>T	ENSP00000303452:p.Val148Phe		131178462	B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	3.871	-0.027929	0.07589	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.54675	0.56;0.56	4.98	0.731	0.18277	.	1.135550	0.06324	N	0.704960	T	0.39145	0.1067	N	0.17631	0.505	0.09310	N	0.999999	B	0.13145	0.007	B	0.14578	0.011	T	0.30119	-0.9989	10	0.35671	T	0.21	-1.6823	11.0788	0.48047	0.0869:0.0:0.7685:0.1446	.	148	P20396	TRH_HUMAN	F	148;144	ENSP00000303452:V148F;ENSP00000426522:V144F	ENSP00000303452:V148F	V	+	1	0	TRH	131178462	0.002000	0.14202	0.020000	0.16555	0.211000	0.24417	-0.251000	0.08818	-0.105000	0.12132	0.591000	0.81541	GTC		0.607	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		T	129695772	G	T	129695772	3	4	171	1	0	0	0	0	1	0	0	0	16478	1377	48	3	448	3	TRH	3	129695772	Missense_Mutation	SNP	G	TCGA-23-1024-01A-02W-0484-10	80127146	129695772	68326658	10	9772											
HIST1H1T	3010	hgsc.bcm.edu	37	6	26108018	26108018	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr6:26108018C>G	ENST00000338379.4	-	1	346	c.304G>C	c.(304-306)Ggt>Cgt	p.G102R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	102	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G102R(1)		breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						GCACCAGTACCCCTGGTTTGC	0.483																																																1	Substitution - Missense(1)	ovary(1)	6											101	101	101					6																	26108018		2203	4300	6503	26215997	SO:0001583	missense	3010			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.304G>C	6.37:g.26108018C>G	ENSP00000341214:p.Gly102Arg		26215997	Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	16.05	3.013580	0.54468	.	.	ENSG00000187475	ENST00000338379	T	0.36157	1.27	5.53	4.64	0.57946	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70911	0.3278	H	0.98818	4.34	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.84701	0.0728	10	0.87932	D	0	-20.8268	15.39	0.74735	0.0:0.8605:0.1395:0.0	.	102	P22492	H1T_HUMAN	R	102	ENSP00000341214:G102R	ENSP00000341214:G102R	G	-	1	0	HIST1H1T	26215997	1.000000	0.71417	0.084000	0.20598	0.071000	0.16799	4.786000	0.62425	1.514000	0.48869	0.655000	0.94253	GGT		0.483	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		G	26108018	C	G	26108018	3	3	171	1	0	0	0	0	1	0	0	0	7127	623	22	3	323	3	HIST1H1T	6	26108018	Missense_Mutation	SNP	C	TCGA-23-1024-01A-02W-0484-10		26108018	145007049	11	9773											
PBX2	5089	hgsc.bcm.edu	37	6	32156565	32156565	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr6:32156565G>A	ENST00000375050.4	-	2	500	c.230C>T	c.(229-231)gCc>gTc	p.A77V	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	77					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A77V(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCAGTTTAGGGCGTGTTTCCT	0.552																																																1	Substitution - Missense(1)	ovary(1)	6											117	143	133					6																	32156565		1511	2709	4220	32264543	SO:0001583	missense	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.230C>T	6.37:g.32156565G>A	ENSP00000364190:p.Ala77Val		32264543	A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569766	0.65765	.	.	ENSG00000204304	ENST00000375050	T	0.32515	1.45	4.92	4.05	0.47172	PBX (1);	0.082836	0.49916	N	0.000129	T	0.27832	0.0685	M	0.71581	2.175	0.58432	D	0.999992	P;P	0.46142	0.763;0.873	B;P	0.47941	0.378;0.562	T	0.10291	-1.0636	10	0.72032	D	0.01	-32.7796	11.0297	0.47765	0.0922:0.0:0.9078:0.0	.	77;77	Q7KZE5;P40425	.;PBX2_HUMAN	V	77	ENSP00000364190:A77V	ENSP00000364190:A77V	A	-	2	0	PBX2	32264543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.480000	0.81109	1.060000	0.40578	0.561000	0.74099	GCC		0.552	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			A	32156565	G	A	32156565	3	1	171	1	0	0	0	0	1	0	0	0	11493	1203	42	2	1094	2	PBX2	6	32156565	Missense_Mutation	SNP	G	TCGA-23-1024-01A-02W-0484-10	6048547	32156565	138958502	12	9774											
AARS2	57505	hgsc.bcm.edu	37	6	44279976	44279976	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr6:44279976C>T	ENST00000244571.4	-	2	270	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.V90M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTGGATCCACGGTGCCCAGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	6											90	70	77					6																	44279976		2203	4300	6503	44387954	SO:0001583	missense	57505			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.268G>A	6.37:g.44279976C>T	ENSP00000244571:p.Val90Met		44387954		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102542	0.76983	.	.	ENSG00000124608	ENST00000244571	T	0.72835	-0.69	4.9	4.03	0.46877	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.283428	0.34156	N	0.004204	T	0.75606	0.3872	M	0.78637	2.42	0.31480	N	0.667275	D	0.89917	1.0	D	0.73380	0.98	T	0.75522	-0.3288	10	0.87932	D	0	-13.7405	9.5589	0.39357	0.0:0.8405:0.0:0.1595	.	90	Q5JTZ9	SYAM_HUMAN	M	90	ENSP00000244571:V90M	ENSP00000244571:V90M	V	-	1	0	AARS2	44387954	0.560000	0.26570	0.874000	0.34290	0.945000	0.59286	2.580000	0.46068	1.279000	0.44446	0.436000	0.28706	GTG		0.542	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		T	44279976	C	T	44279976	3	4	171	1	0	0	0	0	1	0	0	0	20	536	19	1	2773	1	AARS2	6	44279976	Missense_Mutation	SNP	C	TCGA-23-1024-01A-02W-0484-10	12123411	44279976	126835091	13	9775											
FRMD1	79981	hgsc.bcm.edu	37	6	168464403	168464403	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr6:168464403G>A	ENST00000283309.6	-	6	746	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.R160W|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.R228W(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCATGTGCCGGAGGATGTAG	0.657																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)											1	Substitution - Missense(1)	ovary(1)	6											103	86	92					6																	168464403		2203	4300	6503	168207252	SO:0001583	missense	79981				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.682C>T	6.37:g.168464403G>A	ENSP00000283309:p.Arg228Trp		168207252	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532869	0.27387	.	.	ENSG00000153303	ENST00000283309;ENST00000440994	T;T	0.78707	-1.2;-1.2	2.83	0.191	0.15130	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.506221	0.18349	U	0.143925	T	0.77425	0.4128	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.65140	0.932;0.932;0.888	T	0.77104	-0.2711	10	0.87932	D	0	.	9.1883	0.37184	0.0:0.0:0.3699:0.6301	.	140;228;160	B7Z8G9;Q8N878;Q8N878-2	.;FRMD1_HUMAN;.	W	228;160	ENSP00000283309:R228W;ENSP00000414115:R160W	ENSP00000283309:R228W	R	-	1	2	FRMD1	168207252	0.549000	0.26481	0.003000	0.11579	0.137000	0.21094	-0.029000	0.12329	-0.172000	0.10779	0.305000	0.20034	CGG		0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		A	168464403	G	A	168464403	3	1	171	1	0	0	0	0	1	0	0	0	6049	1115	39	1	991	1	FRMD1	6	168464403	Missense_Mutation	SNP	G	TCGA-23-1024-01A-02W-0484-10	124184427	168464403	2650664	14	9776											
ZNF789	285989	hgsc.bcm.edu	37	7	99081750	99081750	+	Silent	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr7:99081750C>T	ENST00000331410.5	+	4	519	c.249C>T	c.(247-249)tcC>tcT	p.S83S	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_3'UTR|ZNF789_ENST00000448667.1_Silent_p.S76S	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	83					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.S83S(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAAGGCTTCCGGTAGTGCTT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	7											110	105	107					7																	99081750		2203	4300	6503	98919686	SO:0001819	synonymous_variant	285989			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.249C>T	7.37:g.99081750C>T			98919686	A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	CCDS34693.1																																																																																				0.542	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		T	99081750	C	T	99081750	2	4	171	1	0	0	0	0	0	0	0	1	18160	639	23	1		1	ZNF789	7	99081750	Silent	SNP	C	TCGA-23-1024-01A-02W-0484-10		99081750	60056913	15	9777											
MOSPD3	64598	hgsc.bcm.edu	37	7	100211201	100211201	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr7:100211201G>A	ENST00000393950.2	+	3	665	c.383G>A	c.(382-384)cGc>cAc	p.R128H	MOSPD3_ENST00000223054.4_Missense_Mutation_p.R128H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R128H|MOSPD3_ENST00000424091.2_Missense_Mutation_p.R118H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	128	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.R128H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGGTGGGACGCAAGGACATT	0.617																																																1	Substitution - Missense(1)	ovary(1)	7											77	70	73					7																	100211201		2203	4300	6503	100049137	SO:0001583	missense	64598			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.383G>A	7.37:g.100211201G>A	ENSP00000377522:p.Arg128His		100049137	A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971836	0.74246	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	.	.	.	4.13	3.22	0.36961	PapD-like (1);	0.000000	0.48767	D	0.000178	T	0.66771	0.2823	L	0.42245	1.32	0.39542	D	0.968832	D;D	0.89917	0.964;1.0	P;D	0.87578	0.451;0.998	T	0.70554	-0.4840	9	0.66056	D	0.02	-10.3986	12.0543	0.53524	0.0:0.1758:0.8242:0.0	.	118;128	C9JE89;O75425	.;MSPD3_HUMAN	H	128;128;128;128;118;114	.	ENSP00000223054:R128H	R	+	2	0	MOSPD3	100049137	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	4.064000	0.57506	1.292000	0.44672	0.563000	0.77884	CGC		0.617	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		A	100211201	G	A	100211201	3	1	171	1	0	0	0	0	1	0	0	0	9717	1087	38	1	393	1	MOSPD3	7	100211201	Missense_Mutation	SNP	G	TCGA-23-1024-01A-02W-0484-10	1129451	100211201	58927462	16	9778											
MMP16	4325	hgsc.bcm.edu	37	8	89128918	89128918	+	Nonsense_Mutation	SNP	T	T	A			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr8:89128918T>A	ENST00000286614.6	-	6	1182	c.901A>T	c.(901-903)Aga>Tga	p.R301*	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	301					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R301*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGTAGAGGTCTTGTAGGTGGA	0.512																																																1	Substitution - Nonsense(1)	ovary(1)	8											198	205	202					8																	89128918		2203	4300	6503	89198034	SO:0001587	stop_gained	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.901A>T	8.37:g.89128918T>A	ENSP00000286614:p.Arg301*		89198034	B2RAN7|Q14824|Q52H48	Nonsense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	39	7.558196	0.98358	.	.	ENSG00000156103	ENST00000286614	.	.	.	5.79	3.32	0.38043	.	0.154467	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6824	0.56928	0.0:0.0:0.2603:0.7397	.	.	.	.	X	301	.	ENSP00000286614:R301X	R	-	1	2	MMP16	89198034	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	2.488000	0.45276	0.412000	0.25729	0.455000	0.32223	AGA		0.512	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		A	89128918	T	A	89128918	4	1	171	1	0	0	0	0	0	1	0	0	9655	1617	56	5	1098	5	MMP16	8	89128918	Nonsense_Mutation	SNP	T	TCGA-23-1024-01A-02W-0484-10		89128918	57235104	17	9779											
RANBP6	26953	hgsc.bcm.edu	37	9	6014121	6014123	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr9:6014121_6014123delTTT	ENST00000259569.5	-	1	1495_1497	c.1485_1487delAAA	c.(1483-1488)aaaaat>aat	p.K495del	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	495					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K495delK(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGAATGTAGATTTTTCACCATAC	0.379																																																1	Deletion - In frame(1)	ovary(1)	9																																								6004123	SO:0001651	inframe_deletion	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1485_1487delAAA	9.37:g.6014121_6014123delTTT	ENSP00000259569:p.Lys495del		6004121	Q5T7X4|Q7Z3V2|Q96E78	In_Frame_Del	DEL	ENST00000259569.5	37	CCDS6467.1																																																																																				0.379	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		-	6014123	TTT	-	6014121	7	5	171	1	0	1	0	1	0	0	0	0	13034	1493	52	0	1834	0	RANBP6	9	6014121	In_Frame_Del	DEL	TTT	TCGA-23-1024-01A-02W-0484-10		6014121	135199310	18	9780											
MASTL	84930	hgsc.bcm.edu	37	10	27459587	27459587	+	Missense_Mutation	SNP	A	A	G	rs371475858		TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr10:27459587A>G	ENST00000375940.4	+	8	1756	c.1699A>G	c.(1699-1701)Atg>Gtg	p.M567V	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.M567V|MASTL_ENST00000342386.6_Missense_Mutation_p.M567V			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	567	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.M567V(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAATATTTCTATGAACTCTGA	0.338																																																1	Substitution - Missense(1)	ovary(1)	10						A	VAL/MET,VAL/MET,VAL/MET	0,4406		0,0,2203	39	41	41		1699,1699,1699	2.1	0.4	10		41	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense	MASTL	NM_001172303.1,NM_001172304.1,NM_032844.3	21,21,21	0,1,6498	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	567/880,567/841,567/879	27459587	1,12997	2203	4296	6499	27499593	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1699A>G	10.37:g.27459587A>G	ENSP00000365107:p.Met567Val		27499593	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	A	0.837	-0.743125	0.03088	0.0	1.16E-4	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.22539	1.95;1.95;1.95	5.58	2.07	0.26955	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.497646	0.25094	N	0.033182	T	0.10937	0.0267	N	0.20685	0.6	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.22068	-1.0227	10	0.33141	T	0.24	-3.1704	5.1482	0.14996	0.294:0.3231:0.3829:0.0	.	567;567;567	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	V	567	ENSP00000365113:M567V;ENSP00000343446:M567V;ENSP00000365107:M567V	ENSP00000343446:M567V	M	+	1	0	MASTL	27499593	0.425000	0.25498	0.364000	0.25888	0.376000	0.30014	0.637000	0.24659	0.419000	0.25927	0.482000	0.46254	ATG		0.338	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		G	27459587	A	G	27459587	3	3	171	1	0	0	0	0	1	0	0	0	9328	449	16	4	1729	4	MASTL	10	27459587	Missense_Mutation	SNP	A	TCGA-23-1024-01A-02W-0484-10		27459587	108075160	19	9781											
OLFML1	283298	hgsc.bcm.edu	37	11	7509443	7509443	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr11:7509443G>T	ENST00000329293.3	+	2	609	c.215G>T	c.(214-216)gGa>gTa	p.G72V	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Intron|OLFML1_ENST00000530135.1_Missense_Mutation_p.G72V	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	72						extracellular region (GO:0005576)		p.G72V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTCATGCTGGGAAGATGTCAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	11											104	91	95					11																	7509443		2201	4296	6497	7466019	SO:0001583	missense	283298			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.215G>T	11.37:g.7509443G>T	ENSP00000332511:p.Gly72Val		7466019	B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494836	0.64186	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.88277	-2.36;-2.36	5.77	4.76	0.60689	.	0.489631	0.20641	N	0.088402	D	0.87458	0.6182	L	0.57536	1.79	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.49140	0.524;0.601	D	0.85531	0.1209	10	0.41790	T	0.15	.	6.6823	0.23127	0.1457:0.0:0.8543:0.0	.	72;72	Q6UWY5;Q5HYE3	OLFL1_HUMAN;.	V	72	ENSP00000433455:G72V;ENSP00000332511:G72V	ENSP00000332511:G72V	G	+	2	0	OLFML1	7466019	0.996000	0.38824	1.000000	0.80357	0.917000	0.54804	2.962000	0.49176	2.732000	0.93576	0.655000	0.94253	GGA		0.433	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		T	7509443	G	T	7509443	3	4	171	1	0	0	0	0	1	0	0	0	10856	1174	41	3	221	3	OLFML1	11	7509443	Missense_Mutation	SNP	G	TCGA-23-1024-01A-02W-0484-10		7509443	127497073	20	9782											
CASP1	834	hgsc.bcm.edu	37	11	104899872	104899872	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr11:104899872C>T	ENST00000533400.1	-	7	1020	c.985G>A	c.(985-987)Gct>Act	p.A329T	CASP1_ENST00000528974.1_Missense_Mutation_p.A290T|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.A292T|CASP1_ENST00000393136.4_Missense_Mutation_p.A308T|CASP1_ENST00000525825.1_Missense_Mutation_p.A308T|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.A308T|CASP1_ENST00000598974.1_Missense_Mutation_p.A329T|CASP1_ENST00000436863.3_Missense_Mutation_p.A329T|CASP1_ENST00000526568.1_Missense_Mutation_p.A236T	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	329					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.A329T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	GAGCAGAAAGCGATAAAATCC	0.398																																					NSCLC(41;1246 1743 4934)											1	Substitution - Missense(1)	ovary(1)	11											122	114	117					11																	104899872		2202	4299	6501	104405082	SO:0001583	missense	834			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.985G>A	11.37:g.104899872C>T	ENSP00000433138:p.Ala329Thr		104405082	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	17.51	3.407002	0.62399	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	4.34	3.39	0.38822	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.262127	0.37761	N	0.001944	T	0.42359	0.1199	M	0.81614	2.55	0.21579	N	0.999632	D;D;D;D;D;D	0.89917	0.975;1.0;0.986;0.989;0.986;0.992	P;D;P;P;P;P	0.80764	0.586;0.994;0.45;0.743;0.45;0.605	T	0.24048	-1.0171	10	0.23891	T	0.37	.	9.4761	0.38873	0.3849:0.6151:0.0:0.0	.	290;329;308;329;292;236	B4DVD8;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	T	178;236;292;329;329;308;308;290	ENSP00000435536:A178T;ENSP00000434250:A236T;ENSP00000432340:A292T;ENSP00000433138:A329T;ENSP00000410076:A329T;ENSP00000376844:A308T;ENSP00000434779:A308T;ENSP00000434259:A290T	ENSP00000376844:A308T	A	-	1	0	CASP1	104405082	0.978000	0.34361	0.991000	0.47740	0.701000	0.40568	0.589000	0.23939	1.122000	0.41944	0.557000	0.71058	GCT		0.398	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		T	104899872	C	T	104899872	3	4	171	1	0	0	0	0	1	0	0	0	2668	768	27	1	241	1	CASP1	11	104899872	Missense_Mutation	SNP	C	TCGA-23-1024-01A-02W-0484-10	97390429	104899872	30106644	21	9783											
PRR4	11272	hgsc.bcm.edu	37	12	10999790	10999790	+	Nonsense_Mutation	SNP	G	G	A	rs200314617		TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr12:10999790G>A	ENST00000228811.4	-	3	314	c.277C>T	c.(277-279)Cga>Tga	p.R93*	PRR4_ENST00000540107.1_Missense_Mutation_p.T35M|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	93	Pro-rich.				retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)		p.R93*(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						CGGGGTGGTCGTTGCTGATTT	0.542													G|||	0	0	0	0	5008	,	,		17811	0		0	False		,,,				2504	0															2	Substitution - Nonsense(2)	ovary(1)|large_intestine(1)	12											243	251	249					12																	10999790		2038	4179	6217	10891057	SO:0001587	stop_gained	11272				CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.277C>T	12.37:g.10999790G>A	ENSP00000228811:p.Arg93*		10891057	A8KA69|F5H0D7|Q8NFB3	Nonsense_Mutation	SNP	ENST00000228811.4	37	CCDS41756.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	4.837|4.837	0.155590|0.155590	0.09236|0.09236	.|.	.|.	ENSG00000111215|ENSG00000111215	ENST00000228811|ENST00000540107	.|T	.|0.04360	.|3.64	1.63|1.63	-3.26|-3.26	0.05064|0.05064	.|.	3.053280|.	0.05590|.	U|.	0.574564|.	.|T	.|0.05456	.|0.0144	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28650	.|-1.0037	.|6	0.02654|0.87932	T|D	1|0	.|.	4.026|4.026	0.09687|0.09687	0.0:0.3163:0.1915:0.4922|0.0:0.3163:0.1915:0.4922	.|.	.|.	.|.	.|.	X|M	93|35	.|ENSP00000443939:T35M	ENSP00000228811:R93X|ENSP00000443939:T35M	R|T	-|-	1|2	2|0	PRR4|PRR4	10891057|10891057	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.440000|-1.440000	0.02412|0.02412	-1.674000|-1.674000	0.01461|0.01461	-1.928000|-1.928000	0.00512|0.00512	CGA|ACG		0.542	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1	NM_007244		A	10999790	G	A	10999790	4	1	171	1	0	0	0	0	0	1	0	0	12602	1153	40	1	131	1	PRR4	12	10999790	Nonsense_Mutation	SNP	G	TCGA-23-1024-01A-02W-0484-10		10999790	122852105	22	9784											
DIP2B	57609	hgsc.bcm.edu	37	12	51074522	51074522	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr12:51074522A>T	ENST00000301180.5	+	9	1216	c.1182A>T	c.(1180-1182)gaA>gaT	p.E394D		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	394						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E394D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCAAAAATGAACCTGTGTTAA	0.353																																																1	Substitution - Missense(1)	ovary(1)	12											215	247	236					12																	51074522		2203	4300	6503	49360789	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1182A>T	12.37:g.51074522A>T	ENSP00000301180:p.Glu394Asp		49360789	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937857	0.52972	.	.	ENSG00000066084	ENST00000301180	T	0.48201	0.82	4.87	-1.27	0.09347	AMP-dependent synthetase/ligase (1);	0.105068	0.64402	D	0.000002	T	0.62344	0.2420	M	0.79805	2.47	0.46028	D	0.998823	P	0.51147	0.942	P	0.62298	0.9	T	0.64407	-0.6415	10	0.49607	T	0.09	-8.0763	11.5431	0.50677	0.5218:0.0:0.4782:0.0	.	394	Q9P265	DIP2B_HUMAN	D	394	ENSP00000301180:E394D	ENSP00000301180:E394D	E	+	3	2	DIP2B	49360789	0.640000	0.27243	0.996000	0.52242	0.998000	0.95712	-0.040000	0.12104	-0.086000	0.12550	0.529000	0.55759	GAA		0.353	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		T	51074522	A	T	51074522	3	4	171	1	0	0	0	0	1	0	0	0	4528	40	2	5	1216	5	DIP2B	12	51074522	Missense_Mutation	SNP	A	TCGA-23-1024-01A-02W-0484-10	40074732	51074522	82777373	23	9785											
PPFIA2	8499	hgsc.bcm.edu	37	12	81732980	81732980	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr12:81732980T>C	ENST00000549396.1	-	21	2687	c.2527A>G	c.(2527-2529)Aaa>Gaa	p.K843E	PPFIA2_ENST00000550584.2_Missense_Mutation_p.K843E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K744E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K843E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K843E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K825E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K769E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K690E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K825E|PPFIA2_ENST00000541017.1_Missense_Mutation_p.K60E|PPFIA2_ENST00000541570.2_Missense_Mutation_p.K410E	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	843					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.K843E(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTCGAGCTTTTTCTTTTTTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											200	196	197					12																	81732980		1853	4106	5959	80257111	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2527A>G	12.37:g.81732980T>C	ENSP00000450337:p.Lys843Glu		80257111	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.617894|4.617894	0.87359|0.87359	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	T;T;T;T;T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79173|0.79173	0.4401|0.4401	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|1	D|.	0.58620|.	0.983|.	P|.	0.52758|.	0.708|.	T|T	0.81805|0.81805	-0.0764|-0.0764	10|6	0.56958|.	D|.	0.05|.	-30.2066|-30.2066	15.8745|15.8745	0.79151|0.79151	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	843|.	O75334|.	LIPA2_HUMAN|.	E|R	843;825;410;60;769;854;825;843;744;843|5	ENSP00000450337:K843E;ENSP00000450298:K825E;ENSP00000438337:K410E;ENSP00000445532:K60E;ENSP00000385093:K769E;ENSP00000327416:K825E;ENSP00000449338:K843E;ENSP00000388373:K744E;ENSP00000447868:K843E|.	ENSP00000327416:K825E|.	K|K	-|-	1|2	0|0	PPFIA2|PPFIA2	80257111|80257111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	7.937000|7.937000	0.87672|0.87672	2.151000|2.151000	0.67156|0.67156	0.459000|0.459000	0.35465|0.35465	AAA|AAA		0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			C	81732980	T	C	81732980	3	2	171	1	0	0	0	0	1	0	0	0	12310	1850	64	4	1294	4	PPFIA2	12	81732980	Missense_Mutation	SNP	T	TCGA-23-1024-01A-02W-0484-10	30658458	81732980	52118915	24	9786											
C14orf28	122525	hgsc.bcm.edu	37	14	45373649	45373649	+	Silent	SNP	C	C	A			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr14:45373649C>A	ENST00000325192.3	+	4	941	c.666C>A	c.(664-666)ccC>ccA	p.P222P	C14orf28_ENST00000553841.1_3'UTR|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Silent_p.P192P	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	222								p.P222P(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						ATGGGGCACCCCCTTTTGTTG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	14											183	178	180					14																	45373649		2203	4300	6503	44443399	SO:0001819	synonymous_variant	122525			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"dopamine receptor interacting protein 1"						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.666C>A	14.37:g.45373649C>A			44443399		Silent	SNP	ENST00000325192.3	37	CCDS32069.1																																																																																				0.398	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		A	45373649	C	A	45373649	2	1	171	1	0	0	0	0	0	0	0	1	1770	610	22	3		3	C14orf28	14	45373649	Silent	SNP	C	TCGA-23-1024-01A-02W-0484-10		45373649	61975891	25	9787											
SLC28A1	9154	hgsc.bcm.edu	37	15	85447460	85447460	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr15:85447460T>A	ENST00000286749.3	+	6	684	c.594T>A	c.(592-594)caT>caA	p.H198Q	SLC28A1_ENST00000537216.1_Missense_Mutation_p.H198Q|SLC28A1_ENST00000537624.1_Missense_Mutation_p.H198Q|SLC28A1_ENST00000538177.1_Missense_Mutation_p.H198Q|SLC28A1_ENST00000394573.1_Missense_Mutation_p.H198Q|SLC28A1_ENST00000537703.1_Missense_Mutation_p.H120Q			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	198					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.H198Q(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GCTCAAAGCATCATTGCGCAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	15											143	126	132					15																	85447460		2203	4299	6502	83248464	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.594T>A	15.37:g.85447460T>A	ENSP00000286749:p.His198Gln		83248464	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086483	0.36855	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58	4.38	0.789	0.18607	Na dependent nucleoside transporter (1);	0.110552	0.64402	D	0.000007	T	0.31949	0.0813	M	0.81802	2.56	0.47123	D	0.999329	D;B;D;B;P	0.76494	0.994;0.133;0.999;0.132;0.954	D;B;D;B;D	0.77557	0.94;0.138;0.99;0.314;0.94	T	0.02244	-1.1189	10	0.87932	D	0	-0.2747	6.1629	0.20373	0.0:0.3185:0.0:0.6815	.	198;198;198;120;198	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	Q	198;198;198;198;198;120	ENSP00000440546:H198Q;ENSP00000443752:H198Q;ENSP00000444700:H198Q;ENSP00000286749:H198Q;ENSP00000378074:H198Q;ENSP00000443764:H120Q	ENSP00000286749:H198Q	H	+	3	2	SLC28A1	83248464	0.992000	0.36948	0.759000	0.31340	0.566000	0.35808	0.586000	0.23894	-0.019000	0.14055	0.529000	0.55759	CAT		0.587	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			A	85447460	T	A	85447460	3	1	171	1	0	0	0	0	1	0	0	0	14534	1432	50	5	683	5	SLC28A1	15	85447460	Missense_Mutation	SNP	T	TCGA-23-1024-01A-02W-0484-10		85447460	17083932	26	9788											
TP53	7157	hgsc.bcm.edu	37	17	7579362	7579363	+	Frame_Shift_Ins	INS	-	-	ACCGT	rs587783063		TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr17:7579362_7579363insACCGT	ENST00000269305.4	-	4	513_514	c.324_325insACGGT	c.(322-327)ggtttcfs	p.F109fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.F109fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.F109fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.F109fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.F109fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.F109fs|TP53_ENST00000574684.1_5'Flank	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	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.G108del(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G108G(1)|p.G105_T125del21(1)|p.?_?ins?(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(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)	CCCAGACGGAAACCGTAGCTGC	0.614		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"	35	Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(3)|Complex - deletion inframe(2)|Insertion - In frame(1)|Substitution - Missense(1)|Substitution - coding silent(1)	ovary(6)|breast(6)|upper_aerodigestive_tract(5)|bone(4)|large_intestine(3)|lung(3)|central_nervous_system(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)	17																																								7520088	SO:0001589	frameshift_variant	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.320_324dupACGGT	17.37:g.7579363_7579367dupACCGT	ENSP00000269305:p.Phe109fs		7520087	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.614	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		ACCGT	7579363	-	ACCGT	7579362	7	5	171	1	0	1	1	0	0	0	0	0	16381	14	1	0	977	0	TP53	17	7579362	Frame_Shift_Ins	INS	-	TCGA-23-1024-01A-02W-0484-10		7579362	73615848	27	9789											
DNAH2	146754	hgsc.bcm.edu	37	17	7636505	7636505	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr17:7636505A>T	ENST00000572933.1	+	5	1960	c.500A>T	c.(499-501)tAt>tTt	p.Y167F	DNAH2_ENST00000570791.1_Missense_Mutation_p.Y167F|DNAH2_ENST00000082259.3_Missense_Mutation_p.Y167F|DNAH2_ENST00000389173.2_Missense_Mutation_p.Y167F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	167	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y167F(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGGGCCCCTATATCCCGGCC	0.547																																																1	Substitution - Missense(1)	ovary(1)	17											92	90	91					17																	7636505		2203	4300	6503	7577230	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.500A>T	17.37:g.7636505A>T	ENSP00000458355:p.Tyr167Phe		7577230	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039357	0.55003	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.42131	0.98;0.98	5.42	5.42	0.78866	.	1.787720	0.02770	N	0.119601	T	0.46619	0.1402	L	0.27053	0.805	0.28732	N	0.902446	B;D	0.53745	0.201;0.962	B;P	0.54706	0.073;0.759	T	0.31586	-0.9938	10	0.13853	T	0.58	.	10.5872	0.45290	0.8385:0.1615:0.0:0.0	.	167;167	Q9P225;Q9P225-3	DYH2_HUMAN;.	F	167	ENSP00000373825:Y167F;ENSP00000082259:Y167F	ENSP00000082259:Y167F	Y	+	2	0	DNAH2	7577230	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	4.231000	0.58639	2.071000	0.62044	0.459000	0.35465	TAT		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7636505	A	T	7636505	3	4	171	1	0	0	0	0	1	0	0	0	4602	449	16	5	514	5	DNAH2	17	7636505	Missense_Mutation	SNP	A	TCGA-23-1024-01A-02W-0484-10	57143	7636505	73558705	28	9790											
RHOT1	55288	hgsc.bcm.edu	37	17	30526010	30526010	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr17:30526010C>T	ENST00000333942.6	+	12	1153	c.914C>T	c.(913-915)gCa>gTa	p.A305V	RHOT1_ENST00000545287.2_Missense_Mutation_p.A305V|RHOT1_ENST00000358365.3_Missense_Mutation_p.A305V|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000354266.3_Missense_Mutation_p.A284V|RHOT1_ENST00000581094.1_Missense_Mutation_p.A305V|RHOT1_ENST00000394692.2_Missense_Mutation_p.A305V|RHOT1_ENST00000583994.1_Missense_Mutation_p.A178V	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	305	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A305V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AATCATCATGCATATTTATTT	0.274																																																1	Substitution - Missense(1)	ovary(1)	17											70	69	69					17																	30526010		2202	4299	6501	27550123	SO:0001583	missense	55288			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.914C>T	17.37:g.30526010C>T	ENSP00000334724:p.Ala305Val		27550123	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017561	0.54576	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.51574	0.7;0.7;0.7	5.56	5.56	0.83823	EF hand associated, type-2 (1);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.76494	0.969;0.997;0.989;0.999	P;D;P;D	0.71656	0.813;0.944;0.898;0.974	T	0.65520	-0.6148	10	0.87932	D	0	-9.2087	15.061	0.71955	0.0:0.8585:0.1415:0.0	.	305;305;305;305	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	V	305	ENSP00000351132:A305V;ENSP00000378184:A305V;ENSP00000334724:A305V	ENSP00000334724:A305V	A	+	2	0	RHOT1	27550123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.776000	0.68924	2.598000	0.87819	0.650000	0.86243	GCA		0.274	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		T	30526010	C	T	30526010	3	4	171	1	0	0	0	0	1	0	0	0	13346	710	25	2	960	2	RHOT1	17	30526010	Missense_Mutation	SNP	C	TCGA-23-1024-01A-02W-0484-10	22889505	30526010	50669200	29	9791											
CCT6B	10693	hgsc.bcm.edu	37	17	33279009	33279009	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr17:33279009C>G	ENST00000314144.5	-	5	689	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	CCT6B_ENST00000421975.3_Missense_Mutation_p.E192Q|CCT6B_ENST00000436961.3_Missense_Mutation_p.E147Q	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	192					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)	p.E192Q(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCCATTATTTCTACCATGAAG	0.318																																																1	Substitution - Missense(1)	ovary(1)	17											103	97	99					17																	33279009		2203	4300	6503	30303122	SO:0001583	missense	10693			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.574G>C	17.37:g.33279009C>G	ENSP00000327191:p.Glu192Gln		30303122	B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331568	0.60853	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.79247	-0.24;-1.25;-1.25	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.989;0.999;1.0	D;D;D	0.91635	0.978;0.994;0.999	D	0.88639	0.3174	10	0.62326	D	0.03	-21.0335	15.6109	0.76716	0.0:1.0:0.0:0.0	.	147;192;192	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	Q	192;192;147	ENSP00000398044:E192Q;ENSP00000327191:E192Q;ENSP00000400917:E147Q	ENSP00000327191:E192Q	E	-	1	0	CCT6B	30303122	1.000000	0.71417	0.923000	0.36655	0.236000	0.25371	6.653000	0.74382	2.627000	0.88993	0.655000	0.94253	GAA		0.318	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		G	33279009	C	G	33279009	3	3	171	1	0	0	0	0	1	0	0	0	2958	922	32	3	1058	3	CCT6B	17	33279009	Missense_Mutation	SNP	C	TCGA-23-1024-01A-02W-0484-10	2752999	33279009	47916201	30	9792											
SLFN11	91607	hgsc.bcm.edu	37	17	33679891	33679891	+	Silent	SNP	T	T	A			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr17:33679891T>A	ENST00000394566.1	-	7	2462	c.2190A>T	c.(2188-2190)atA>atT	p.I730I	SLFN11_ENST00000308377.4_Silent_p.I730I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	730					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.I730I(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATTGCGAACTATTCTGGTGA	0.438																																																1	Substitution - coding silent(1)	ovary(1)	17											141	140	141					17																	33679891		2203	4300	6503	30704004	SO:0001819	synonymous_variant	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2190A>T	17.37:g.33679891T>A			30704004	E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	CCDS11294.1																																																																																				0.438	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		A	33679891	T	A	33679891	2	1	171	1	0	0	0	0	0	0	0	1	14736	1512	53	5		5	SLFN11	17	33679891	Silent	SNP	T	TCGA-23-1024-01A-02W-0484-10	400882	33679891	47515319	31	9793											
PRPSAP1	5635	hgsc.bcm.edu	37	17	74309053	74309053	+	Silent	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr17:74309053C>T	ENST00000446526.3	-	9	1342	c.897G>A	c.(895-897)gaG>gaA	p.E299E	PRPSAP1_ENST00000324684.4_Silent_p.E196E|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	270					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.E270E(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTTCAGGATCTCCGCGGCAG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	17											109	106	107					17																	74309053		2203	4300	6503	71820648	SO:0001819	synonymous_variant	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.897G>A	17.37:g.74309053C>T			71820648	B2R6M4|Q96H06	Silent	SNP	ENST00000446526.3	37	CCDS11743.2																																																																																				0.527	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		T	74309053	C	T	74309053	2	4	171	1	0	0	0	0	0	0	0	1	12584	912	32	2		2	PRPSAP1	17	74309053	Silent	SNP	C	TCGA-23-1024-01A-02W-0484-10	40629162	74309053	6886157	32	9794											
ANKRD12	23253	hgsc.bcm.edu	37	18	9255224	9255224	+	Silent	SNP	T	T	C			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr18:9255224T>C	ENST00000262126.4	+	9	2199	c.1959T>C	c.(1957-1959)caT>caC	p.H653H	ANKRD12_ENST00000383440.2_Silent_p.H630H|ANKRD12_ENST00000400020.3_Silent_p.H630H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	653						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H653H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						taaaaaaacataaattgaagc	0.294																																																1	Substitution - coding silent(1)	ovary(1)	18											34	38	37					18																	9255224		2192	4282	6474	9245224	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1959T>C	18.37:g.9255224T>C			9245224	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	CCDS11843.1																																																																																				0.294	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		C	9255224	T	C	9255224	2	2	171	1	0	0	0	0	0	0	0	1	640	1403	49	4		4	ANKRD12	18	9255224	Silent	SNP	T	TCGA-23-1024-01A-02W-0484-10		9255224	68822024	33	9795											
FAM59A	64762	hgsc.bcm.edu	37	18	29866996	29866996	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr18:29866996C>G	ENST00000269209.6	-	4	1567	c.1564G>C	c.(1564-1566)Gcc>Ccc	p.A522P	GAREM_ENST00000399218.4_Missense_Mutation_p.A522P|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	522	Necessary for interaction with GRB2.|Pro-rich.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.A522P(1)									TGACTTACGGCTTCAGATTTG	0.478																																																1	Substitution - Missense(1)	ovary(1)	18											71	76	74					18																	29866996		2203	4300	6503	28120994	SO:0001583	missense	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1564G>C	18.37:g.29866996C>G	ENSP00000269209:p.Ala522Pro		28120994	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453422	0.84209	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.22945	1.93;1.94	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	L	0.42245	1.32	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.71414	0.844;0.973	T	0.21586	-1.0241	10	0.56958	D	0.05	-26.6956	19.3995	0.94621	0.0:1.0:0.0:0.0	.	522;522	Q9H706;Q9H706-3	FA59A_HUMAN;.	P	522	ENSP00000382165:A522P;ENSP00000269209:A522P	ENSP00000269209:A522P	A	-	1	0	FAM59A	28120994	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.231000	0.78106	2.890000	0.99128	0.655000	0.94253	GCC		0.478	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		G	29866996	C	G	29866996	3	3	171	1	0	0	0	0	1	0	0	0	5592	797	28	3	1075	3	FAM59A	18	29866996	Missense_Mutation	SNP	C	TCGA-23-1024-01A-02W-0484-10	20611772	29866996	48210252	34	9796											
SIGLEC11	114132	hgsc.bcm.edu	37	19	50461967	50461967	+	Silent	SNP	T	T	G			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chr19:50461967T>G	ENST00000447370.2	-	7	1386	c.1296A>C	c.(1294-1296)ggA>ggC	p.G432G	SIGLEC11_ENST00000426971.2_Silent_p.G432G|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	432	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G420G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGGTGAACTCTCCTTCGTGCT	0.667																																																1	Substitution - coding silent(1)	ovary(1)	19											76	73	74					19																	50461967		2203	4300	6503	55153779	SO:0001819	synonymous_variant	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1296A>C	19.37:g.50461967T>G			55153779		Silent	SNP	ENST00000447370.2	37	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	T	4.752	0.139859	0.09083	.	.	ENSG00000161640	ENST00000426971	T	0.22134	1.97	3.1	-2.34	0.06704	.	.	.	.	.	T	0.12390	0.0301	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	T	0.34976	-0.9807	5	.	.	.	.	4.3254	0.11038	0.0:0.1785:0.2711:0.5504	.	.	.	.	A	422	ENSP00000398891:E422A	.	E	-	2	0	SIGLEC11	55153779	0.000000	0.05858	0.002000	0.10522	0.068000	0.16541	-1.907000	0.01589	-0.647000	0.05444	0.454000	0.30748	GAG		0.667	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		G	50461967	T	G	50461967	2	3	171	1	0	0	0	0	0	0	0	1	14310	1538	54	5		5	SIGLEC11	19	50461967	Silent	SNP	T	TCGA-23-1024-01A-02W-0484-10		50461967	8667016	35	9797											
CXorf21	80231	hgsc.bcm.edu	37	X	30578015	30578015	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chrX:30578015C>T	ENST00000378962.3	-	3	780	c.458G>A	c.(457-459)gGc>gAc	p.G153D		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	153								p.G153D(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CAGCAAAGGGCCATATTCAAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											54	53	53					X																	30578015		2202	4300	6502	30487936	SO:0001583	missense	80231			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.458G>A	X.37:g.30578015C>T	ENSP00000368245:p.Gly153Asp		30487936		Missense_Mutation	SNP	ENST00000378962.3	37	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510619	0.64522	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000003	T	0.72977	0.3528	L	0.61387	1.9	0.48185	D	0.999606	D	0.61080	0.989	P	0.55749	0.783	T	0.76149	-0.3065	9	0.66056	D	0.02	-25.7028	17.958	0.89075	0.0:1.0:0.0:0.0	.	153	Q9HAI6	CX021_HUMAN	D	153	.	ENSP00000368245:G153D	G	-	2	0	CXorf21	30487936	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.459000	0.66685	2.431000	0.82371	0.513000	0.50165	GGC		0.443	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		T	30578015	C	T	30578015	3	4	171	1	0	0	0	0	1	0	0	0	4101	739	26	2	451	2	CXorf21	23	30578015	Missense_Mutation	SNP	C	TCGA-23-1024-01A-02W-0484-10		30578015	124692545	36	9798											
CPXCR1	53336	hgsc.bcm.edu	37	X	88008468	88008468	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chrX:88008468A>T	ENST00000276127.4	+	3	312	c.53A>T	c.(52-54)aAt>aTt	p.N18I	CPXCR1_ENST00000373111.1_Missense_Mutation_p.N18I	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	18							metal ion binding (GO:0046872)	p.N18I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GCTCACAAAAATTCTGAAAAT	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											31	27	29					X																	88008468		2203	4297	6500	87895124	SO:0001583	missense	53336			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.53A>T	X.37:g.88008468A>T	ENSP00000276127:p.Asn18Ile		87895124	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307411	0.23821	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.35048	1.33;1.33	3.28	2.08	0.27032	.	0.182677	0.26578	N	0.023592	T	0.24431	0.0592	L	0.29908	0.895	0.09310	N	1	P	0.44816	0.844	B	0.43809	0.432	T	0.06588	-1.0818	9	.	.	.	.	5.0645	0.14574	0.7323:0.0:0.0:0.2677	.	18	Q8N123	CPXCR_HUMAN	I	18	ENSP00000276127:N18I;ENSP00000362203:N18I	.	N	+	2	0	CPXCR1	87895124	0.051000	0.20477	0.070000	0.20053	0.280000	0.26924	0.280000	0.18790	0.472000	0.27344	0.481000	0.45027	AAT		0.373	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		T	88008468	A	T	88008468	3	4	171	1	0	0	0	0	1	0	0	0	3836	101	4	5	55	5	CPXCR1	23	88008468	Missense_Mutation	SNP	A	TCGA-23-1024-01A-02W-0484-10	57430453	88008468	67262092	37	9799											
TMEM185A	84548	hgsc.bcm.edu	37	X	148690459	148690459	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1024-01A-02W-0484-10	TCGA-23-1024-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8f84bb04-db2c-423a-a355-0143d874edbb	2f1c5714-d7e1-44f3-9a3d-327dcc961aff	g.chrX:148690459A>T	ENST00000316916.8	-	3	582	c.278T>A	c.(277-279)cTc>cAc	p.L93H	TMEM185A_ENST00000507237.1_Missense_Mutation_p.L93H|TMEM185A_ENST00000536359.1_Missense_Mutation_p.L34H	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	93						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.L93H(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CATCAACAAGAGCAAGTGGAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	X											170	150	157					X																	148690459		2202	4299	6501	148498255	SO:0001583	missense	84548			AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"chromosome X open reading frame 13", "family with sequence similarity 11, member A"	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.278T>A	X.37:g.148690459A>T	ENSP00000359449:p.Leu93His		148498255	B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300025	0.81136	.	.	ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237;ENST00000511776	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.982;0.959;0.987	T	0.60094	-0.7330	10	0.72032	D	0.01	-16.1468	13.6613	0.62368	1.0:0.0:0.0:0.0	.	93;34;93	Q8NFB2;F5H5U0;E7EMM1	T185A_HUMAN;.;.	H	93;34;93;34	ENSP00000359449:L93H;ENSP00000443119:L34H;ENSP00000427766:L93H;ENSP00000428659:L34H	ENSP00000359449:L93H	L	-	2	0	TMEM185A	148498255	1.000000	0.71417	0.913000	0.36048	0.932000	0.56968	8.901000	0.92560	1.821000	0.53095	0.417000	0.27973	CTC		0.468	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		T	148690459	A	T	148690459	3	4	171	1	0	0	0	0	1	0	0	0	16107	304	11	5	794	5	TMEM185A	23	148690459	Missense_Mutation	SNP	A	TCGA-23-1024-01A-02W-0484-10	60681991	148690459	6580101	38	9800											
IL23R	149233	hgsc.bcm.edu	37	1	67648526	67648526	+	Silent	SNP	A	A	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr1:67648526A>T	ENST00000347310.5	+	4	546	c.375A>T	c.(373-375)ccA>ccT	p.P125P	IL23R_ENST00000371002.1_Silent_p.P125P|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	125					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.P125P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAGATCCGCCAGATATTCCTG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	1											164	161	162					1																	67648526		2203	4300	6503	67421114	SO:0001819	synonymous_variant	149233			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.375A>T	1.37:g.67648526A>T			67421114	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	CCDS637.1																																																																																				0.438	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		T	67648526	A	T	67648526	2	4	172	1	0	0	0	0	0	0	0	1	7676	175	7	5		5	IL23R	1	67648526	Silent	SNP	A	TCGA-23-1026-01B-01W-0484-10		67648526	181602095	1	9801											
MTF2	22823	hgsc.bcm.edu	37	1	93602348	93602348	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr1:93602348G>T	ENST00000370298.4	+	15	1835	c.1546G>T	c.(1546-1548)Gta>Tta	p.V516L	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.V414L|MTF2_ENST00000370303.4_Missense_Mutation_p.V459L|MTF2_ENST00000545708.1_Missense_Mutation_p.V414L	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	516					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.V516L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTCAGAAATTGTAAAAGATGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											92	89	90					1																	93602348		2203	4300	6503	93374936	SO:0001583	missense	22823			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1546G>T	1.37:g.93602348G>T	ENSP00000359321:p.Val516Leu		93374936	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275947	0.40294	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.29397	1.57;1.57;1.98;1.96	5.9	4.99	0.66335	.	0.327890	0.33040	N	0.005355	T	0.08044	0.0201	N	0.14661	0.345	0.37965	D	0.933083	B;B;B	0.22003	0.063;0.001;0.004	B;B;B	0.19666	0.026;0.001;0.004	T	0.11817	-1.0572	10	0.28530	T	0.3	-6.841	11.0071	0.47641	0.1414:0.0:0.8586:0.0	.	459;516;414	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	L	414;414;516;459	ENSP00000444962:V414L;ENSP00000443295:V414L;ENSP00000359321:V516L;ENSP00000359326:V459L	ENSP00000359321:V516L	V	+	1	0	MTF2	93374936	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.133000	0.64764	1.511000	0.48818	0.655000	0.94253	GTA		0.408	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		T	93602348	G	T	93602348	3	4	172	1	0	0	0	0	1	0	0	0	9923	1377	48	3	1604	3	MTF2	1	93602348	Missense_Mutation	SNP	G	TCGA-23-1026-01B-01W-0484-10	25953822	93602348	155648273	2	9802											
HHIPL2	79802	hgsc.bcm.edu	37	1	222717252	222717252	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr1:222717252G>A	ENST00000343410.6	-	2	659	c.601C>T	c.(601-603)Cct>Tct	p.P201S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	201					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.P201S(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGCCCTGAGGATCTTGGGCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											53	56	55					1																	222717252		2203	4300	6503	220783875	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.601C>T	1.37:g.222717252G>A	ENSP00000342118:p.Pro201Ser		220783875	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.859147	0.00552	.	.	ENSG00000143512	ENST00000343410	T	0.73789	-0.78	5.31	3.43	0.39272	Folate receptor-like (1);Six-bladed beta-propeller, TolB-like (1);	1.193380	0.06390	N	0.716982	T	0.68586	0.3017	L	0.55103	1.725	0.09310	N	1	B	0.13594	0.008	B	0.15052	0.012	T	0.51348	-0.8717	10	0.27082	T	0.32	1.4485	6.4166	0.21719	0.073:0.1313:0.6598:0.1359	.	201	Q6UWX4	HIPL2_HUMAN	S	201	ENSP00000342118:P201S	ENSP00000342118:P201S	P	-	1	0	HHIPL2	220783875	0.091000	0.21658	0.031000	0.17742	0.013000	0.08279	0.446000	0.21694	0.603000	0.29913	0.467000	0.42956	CCT		0.602	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		A	222717252	G	A	222717252	3	1	172	1	0	0	0	0	1	0	0	0	7094	1174	41	2	1605	2	HHIPL2	1	222717252	Missense_Mutation	SNP	G	TCGA-23-1026-01B-01W-0484-10	129114904	222717252	26533369	3	9803											
OTOF	9381	hgsc.bcm.edu	37	2	26696339	26696339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr2:26696339delA	ENST00000272371.2	-	28	3631	c.3505delT	c.(3505-3507)tcgfs	p.S1170fs	OTOF_ENST00000403946.3_Frame_Shift_Del_p.S1170fs|OTOF_ENST00000338581.6_Frame_Shift_Del_p.S423fs|OTOF_ENST00000339598.3_Frame_Shift_Del_p.S423fs|OTOF_ENST00000402415.3_Frame_Shift_Del_p.S480fs	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1170					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.S1169fs*3(1)|p.S422fs*3(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGGGACGACTGCACCCCC	0.602																																					GBM(102;732 1451 20652 24062 31372)											2	Deletion - Frameshift(2)	ovary(2)	2											79	75	76					2																	26696339		2203	4300	6503	26549843	SO:0001589	frameshift_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3505delT	2.37:g.26696339delA	ENSP00000272371:p.Ser1170fs		26549843	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Frame_Shift_Del	DEL	ENST00000272371.2	37	CCDS1725.1																																																																																				0.602	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			-	26696339	A	-	26696339	7	5	172	1	0	1	0	1	0	0	0	0	11303	275	10	0	2749	0	OTOF	2	26696339	Frame_Shift_Del	DEL	A	TCGA-23-1026-01B-01W-0484-10		26696339	216503034	4	9804											
YSK4	80122	hgsc.bcm.edu	37	2	135744151	135744151	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr2:135744151T>A	ENST00000375845.3	-	7	2321	c.2291A>T	c.(2290-2292)gAa>gTa	p.E764V	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E651V|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E781V|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	764							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E116V(1)|p.E764V(1)									CCAGTCTGGTTCTGAAATACC	0.388																																																2	Substitution - Missense(2)	ovary(2)	2											73	73	73					2																	135744151		2203	4300	6503	135460621	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2291A>T	2.37:g.135744151T>A	ENSP00000365005:p.Glu764Val		135460621	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141336	0.37825	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.76709	-1.04;-0.98;1.32;-1.03	4.75	3.56	0.40772	.	0.428095	0.19756	N	0.106764	T	0.61173	0.2326	L	0.32530	0.975	0.30279	N	0.791468	B;P;B	0.37207	0.091;0.587;0.221	B;B;B	0.32465	0.07;0.146;0.07	T	0.63225	-0.6685	10	0.72032	D	0.01	.	3.551	0.07845	0.1673:0.205:0.0:0.6277	.	651;781;764	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	V	764;651;781;154	ENSP00000365005:E764V;ENSP00000351140:E651V;ENSP00000376647:E781V;ENSP00000392827:E154V	ENSP00000351140:E651V	E	-	2	0	YSK4	135460621	0.821000	0.29204	0.554000	0.28268	0.799000	0.45148	0.563000	0.23547	0.794000	0.33899	0.334000	0.21626	GAA		0.388	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135744151	T	A	135744151	3	1	172	1	0	0	0	0	1	0	0	0	17495	1783	62	5	1711	5	YSK4	2	135744151	Missense_Mutation	SNP	T	TCGA-23-1026-01B-01W-0484-10	109047812	135744151	107455222	5	9805											
DUSP19	142679	hgsc.bcm.edu	37	2	183943752	183943752	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr2:183943752A>G	ENST00000354221.4	+	1	266	c.91A>G	c.(91-93)Att>Gtt	p.I31V	DUSP19_ENST00000342619.6_Missense_Mutation_p.I31V|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	31					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.I31V(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TGGAAAGAAAATTATAGAAAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	2											116	118	118					2																	183943752		2203	4300	6503	183651997	SO:0001583	missense	142679			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.91A>G	2.37:g.183943752A>G	ENSP00000346160:p.Ile31Val		183651997	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701751	0.48307	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	T;T	0.16196	2.36;3.77	6.17	2.21	0.28008	.	0.385018	0.29868	N	0.010989	T	0.12902	0.0313	L	0.34521	1.04	0.32762	N	0.504902	B;B	0.17667	0.023;0.016	B;B	0.12156	0.007;0.004	T	0.13150	-1.0520	10	0.19147	T	0.46	.	14.4546	0.67409	0.5978:0.4022:0.0:0.0	.	31;31	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	V	31	ENSP00000343905:I31V;ENSP00000346160:I31V	ENSP00000343905:I31V	I	+	1	0	DUSP19	183651997	0.985000	0.35326	0.984000	0.44739	0.991000	0.79684	1.272000	0.33109	1.134000	0.42165	0.533000	0.62120	ATT		0.453	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			G	183943752	A	G	183943752	3	3	172	1	0	0	0	0	1	0	0	0	4818	101	4	4	93	4	DUSP19	2	183943752	Missense_Mutation	SNP	A	TCGA-23-1026-01B-01W-0484-10	48199601	183943752	59255621	6	9806											
ATP13A5	344905	hgsc.bcm.edu	37	3	193042719	193042719	+	Silent	SNP	C	C	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr3:193042719C>T	ENST00000342358.4	-	14	1725	c.1608G>A	c.(1606-1608)ctG>ctA	p.L536L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	536						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L536L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGAGAAGGATCAGAGAGTGGC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	3											123	130	128					3																	193042719		2203	4300	6503	194525413	SO:0001819	synonymous_variant	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1608G>A	3.37:g.193042719C>T			194525413	Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	CCDS33914.1																																																																																				0.542	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		T	193042719	C	T	193042719	2	4	172	1	0	0	0	0	0	0	0	1	1127	813	29	2		2	ATP13A5	3	193042719	Silent	SNP	C	TCGA-23-1026-01B-01W-0484-10		193042719	4979711	7	9807											
C5orf22	55322	hgsc.bcm.edu	37	5	31545772	31545772	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr5:31545772C>T	ENST00000325366.9	+	7	1139	c.1012C>T	c.(1012-1014)Ctt>Ttt	p.L338F	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	338								p.L338F(1)|p.L338I(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						ACTAGTTCCCCTTGTACAGAG	0.308																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	5											162	164	163					5																	31545772		2203	4299	6502	31581529	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.1012C>T	5.37:g.31545772C>T	ENSP00000326879:p.Leu338Phe		31581529	Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747221	0.89663	.	.	ENSG00000082213	ENST00000325366;ENST00000543911	T	0.38077	1.16	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62426	-0.6857	10	0.54805	T	0.06	-23.337	19.4899	0.95046	0.0:1.0:0.0:0.0	.	338	Q49AR2	CE022_HUMAN	F	338;73	ENSP00000326879:L338F	ENSP00000326879:L338F	L	+	1	0	C5orf22	31581529	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.954000	0.63631	2.603000	0.88011	0.555000	0.69702	CTT		0.308	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		T	31545772	C	T	31545772	3	4	172	1	0	0	0	0	1	0	0	0	2285	681	24	2	1038	2	C5orf22	5	31545772	Missense_Mutation	SNP	C	TCGA-23-1026-01B-01W-0484-10		31545772	149369488	8	9808											
FTSJ2	29960	hgsc.bcm.edu	37	7	2279193	2279193	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr7:2279193C>T	ENST00000242257.8	-	2	186	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	FTSJ2_ENST00000407040.1_5'Flank|NUDT1_ENST00000397048.1_5'Flank|NUDT1_ENST00000397046.1_5'Flank|NUDT1_ENST00000356714.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|NUDT1_ENST00000397049.1_5'Flank|FTSJ2_ENST00000440306.2_Missense_Mutation_p.R53Q	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)									p.R53Q(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		GCTTCGACACCGGTAACTCTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	7											80	76	77					7																	2279193		2203	4300	6503	2245719	SO:0001583	missense	29960			AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"rRNA (uridine-2'-O-)-methyltransferase", "MRM2 RNA methyltransferase homolog (S. cerevisiae)"	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.158G>A	7.37:g.2279193C>T	ENSP00000242257:p.Arg53Gln		2245719		Missense_Mutation	SNP	ENST00000242257.8	37	CCDS5328.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066759	0.93898	.	.	ENSG00000122687	ENST00000242257;ENST00000440306	T;T	0.37058	1.22;1.22	5.96	5.96	0.96718	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86489	0.1796	10	0.87932	D	0	1.8642	20.422	0.99049	0.0:1.0:0.0:0.0	.	53	Q9UI43	RRMJ2_HUMAN	Q	53	ENSP00000242257:R53Q;ENSP00000392343:R53Q	ENSP00000242257:R53Q	R	-	2	0	FTSJ2	2245719	1.000000	0.71417	0.811000	0.32455	0.397000	0.30659	7.320000	0.79064	2.832000	0.97577	0.655000	0.94253	CGG		0.622	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060187.1	NM_013393		T	2279193	C	T	2279193	3	4	172	1	0	0	0	0	1	0	0	0	6088	652	23	1	590	1	FTSJ2	7	2279193	Missense_Mutation	SNP	C	TCGA-23-1026-01B-01W-0484-10		2279193	156859470	9	9809											
CNGB3	54714	hgsc.bcm.edu	37	8	87679289	87679289	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr8:87679289C>T	ENST00000320005.5	-	6	763	c.716G>A	c.(715-717)cGc>cAc	p.R239H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	239					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R239H(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAAGACGAGGCGCAGTGGTAT	0.428																																																1	Substitution - Missense(1)	ovary(1)	8											112	103	106					8																	87679289		2203	4300	6503	87748405	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.716G>A	8.37:g.87679289C>T	ENSP00000316605:p.Arg239His		87748405	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943318	0.92593	.	.	ENSG00000170289	ENST00000320005	T	0.14266	2.52	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.55159	-0.8184	10	0.87932	D	0	.	19.4973	0.95079	0.0:1.0:0.0:0.0	.	239;239	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	H	239	ENSP00000316605:R239H	ENSP00000316605:R239H	R	-	2	0	CNGB3	87748405	1.000000	0.71417	0.949000	0.38748	0.654000	0.38779	6.033000	0.70925	2.608000	0.88229	0.655000	0.94253	CGC		0.428	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		T	87679289	C	T	87679289	3	4	172	1	0	0	0	0	1	0	0	0	3601	768	27	1	1765	1	CNGB3	8	87679289	Missense_Mutation	SNP	C	TCGA-23-1026-01B-01W-0484-10		87679289	58684733	10	9810											
PTK2	5747	hgsc.bcm.edu	37	8	141829027	141829027	+	Silent	SNP	C	C	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr8:141829027C>A	ENST00000522684.1	-	9	970	c.741G>T	c.(739-741)ctG>ctT	p.L247L	PTK2_ENST00000517887.1_Silent_p.L291L|PTK2_ENST00000340930.3_Silent_p.L247L|PTK2_ENST00000519419.1_Silent_p.L291L|PTK2_ENST00000535192.1_Silent_p.L247L|PTK2_ENST00000395218.2_Silent_p.L247L|PTK2_ENST00000521059.1_Silent_p.L247L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	247	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.L269L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGACTGGAGACAGGATCTCAA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	8											170	170	170					8																	141829027		2203	4299	6502	141898209	SO:0001819	synonymous_variant	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.741G>T	8.37:g.141829027C>A			141898209	B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.082979	0.20309	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.6	-3.82	0.04281	.	.	.	.	.	T	0.49389	0.1554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43294	-0.9400	4	.	.	.	.	6.3336	0.21285	0.0902:0.3938:0.4205:0.0955	.	.	.	.	F	258	.	.	V	-	1	0	PTK2	141898209	0.833000	0.29383	0.872000	0.34217	0.996000	0.88848	-0.144000	0.10280	-1.071000	0.03145	-0.165000	0.13383	GTC		0.358	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		A	141829027	C	A	141829027	2	1	172	1	0	0	0	0	0	0	0	1	12765	465	17	3		3	PTK2	8	141829027	Silent	SNP	C	TCGA-23-1026-01B-01W-0484-10	54149738	141829027	4534995	11	9811											
KIAA2026	158358	hgsc.bcm.edu	37	9	5923031	5923031	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr9:5923031C>A	ENST00000399933.3	-	8	2964	c.2965G>T	c.(2965-2967)Gcc>Tcc	p.A989S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.A959S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	989								p.A164S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCCAATGAGGCAAATGACTCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	9											147	137	140					9																	5923031		1909	4134	6043	5913031	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2965G>T	9.37:g.5923031C>A	ENSP00000382815:p.Ala989Ser		5913031	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	C	9.979	1.227596	0.22542	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.4	3.46	0.39613	.	0.363764	0.23477	N	0.047759	T	0.24431	0.0592	N	0.17082	0.46	0.25971	N	0.982499	B	0.23377	0.084	B	0.18561	0.022	T	0.12837	-1.0532	9	0.27082	T	0.32	-1.7065	9.7186	0.40289	0.2921:0.5809:0.127:0.0	.	989	Q5HYC2	K2026_HUMAN	S	989;959	.	ENSP00000370870:A959S	A	-	1	0	KIAA2026	5913031	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.765000	0.38481	1.247000	0.43917	0.462000	0.41574	GCC		0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		A	5923031	C	A	5923031	3	1	172	1	0	0	0	0	1	0	0	0	8270	710	25	3	3350	3	KIAA2026	9	5923031	Missense_Mutation	SNP	C	TCGA-23-1026-01B-01W-0484-10		5923031	135290400	12	9812											
AKR1C4	1109	hgsc.bcm.edu	37	10	5247796	5247796	+	Splice_Site	SNP	A	A	C			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr10:5247796A>C	ENST00000380448.1	+	6	699	c.446A>C	c.(445-447)gAg>gCg	p.E149A	AKR1C4_ENST00000263126.1_Splice_Site_p.E149A			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	149					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.E149A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						GCCACATGGGAGGTGAGTGCT	0.448																																																1	Substitution - Missense(1)	ovary(1)	10											119	105	109					10																	5247796		2203	4300	6503	5237796	SO:0001630	splice_region_variant	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.447+1A>C	10.37:g.5247796A>C			5237796	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	A	9.951	1.220177	0.22373	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.52983	0.64;0.64	3.16	3.16	0.36331	NADP-dependent oxidoreductase domain (3);	0.270365	0.31031	N	0.008395	T	0.41673	0.1169	L	0.28740	0.885	0.45025	D	0.998044	B	0.25441	0.126	B	0.39904	0.313	T	0.38845	-0.9642	10	0.48119	T	0.1	.	9.6032	0.39617	1.0:0.0:0.0:0.0	.	149	P17516	AK1C4_HUMAN	A	149	ENSP00000369814:E149A;ENSP00000263126:E149A	ENSP00000263126:E149A	E	+	2	0	AKR1C4	5237796	1.000000	0.71417	0.995000	0.50966	0.028000	0.11728	7.251000	0.78297	1.195000	0.43115	0.260000	0.18958	GAG		0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818	Missense_Mutation	C	5247796	A	C	5247796	5	2	172	1	0	0	0	0	0	0	1	0	472	318	11	5	460	5	AKR1C4	10	5247796	Splice_Site	SNP	A	TCGA-23-1026-01B-01W-0484-10		5247796	130286951	13	9813											
ZEB1	6935	hgsc.bcm.edu	37	10	31791301	31791301	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr10:31791301T>A	ENST00000320985.10	+	4	455	c.345T>A	c.(343-345)gaT>gaA	p.D115E	ZEB1_ENST00000542815.3_Missense_Mutation_p.D48E|ZEB1_ENST00000361642.5_Missense_Mutation_p.D116E|ZEB1_ENST00000560721.2_Missense_Mutation_p.D95E|ZEB1_ENST00000446923.2_Missense_Mutation_p.D99E|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	115					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D115E(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCGAGTCAGATGCAGAAAATG	0.358																																					Ovarian(40;423 959 14296 36701 49589)											1	Substitution - Missense(1)	ovary(1)	10											110	101	104					10																	31791301		2203	4300	6503	31831307	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.345T>A	10.37:g.31791301T>A	ENSP00000319248:p.Asp115Glu		31831307	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.34|19.34	3.808129|3.808129	0.70797|0.70797	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923|ENST00000543514	T;T;T;T;T|.	0.81415|.	-1.49;-1.49;-1.49;-1.49;-1.49|.	5.92|5.92	2.35|2.35	0.29111|0.29111	.|.	0.099877|.	0.44285|.	D|.	0.000462|.	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.46157|0.46157	1.445|1.445	0.50171|0.50171	D|D	0.99985|0.99985	P;P;P;P;P;P|.	0.45044|.	0.702;0.849;0.849;0.589;0.849;0.849|.	B;B;P;B;P;P|.	0.47102|.	0.421;0.386;0.514;0.145;0.537;0.514|.	T|T	0.55431|0.55431	-0.8142|-0.8142	10|6	0.22706|0.87932	T|D	0.39|0	-26.901|-26.901	8.5821|8.5821	0.33634|0.33634	0.0:0.2766:0.0:0.7234|0.0:0.2766:0.0:0.7234	.|.	48;99;115;95;116;115|.	F5H4I8;E9PCM7;B2RBI8;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;ZEB1_HUMAN|.	E|K	115;116;115;48;115;95;116;99|7	ENSP00000354487:D116E;ENSP00000444891:D48E;ENSP00000319248:D115E;ENSP00000415961:D116E;ENSP00000391612:D99E|.	ENSP00000319248:D115E|ENSP00000443742:M7K	D|M	+|+	3|2	2|0	ZEB1|ZEB1	31831307|31831307	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.412000|0.412000	0.21131|0.21131	0.158000|0.158000	0.19367|0.19367	-0.263000|-0.263000	0.10527|0.10527	GAT|ATG		0.358	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		A	31791301	T	A	31791301	3	1	172	1	0	0	0	0	1	0	0	0	17623	1461	51	5	373	5	ZEB1	10	31791301	Missense_Mutation	SNP	T	TCGA-23-1026-01B-01W-0484-10	26543505	31791301	103743446	14	9814											
TMEM180	79847	hgsc.bcm.edu	37	10	104229753	104229753	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr10:104229753G>C	ENST00000238936.4	+	4	409	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L	TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.V58L	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	58						integral component of membrane (GO:0016021)		p.V58L(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTGCAGACAGTGTTTCTCCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	10											136	94	108					10																	104229753		2203	4300	6503	104219743	SO:0001583	missense	79847			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.172G>C	10.37:g.104229753G>C	ENSP00000238936:p.Val58Leu		104219743	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969430	0.53614	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.88586	-2.4	5.08	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);	0.192894	0.45606	D	0.000357	D	0.86104	0.5853	L	0.56769	1.78	0.80722	D	1	B;P;P	0.43578	0.451;0.793;0.811	B;B;B	0.40534	0.07;0.329;0.332	D	0.85204	0.1017	10	0.35671	T	0.21	.	11.8955	0.52654	0.0804:0.0:0.9196:0.0	.	58;58;58	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	L	58	ENSP00000238936:V58L	ENSP00000238936:V58L	V	+	1	0	TMEM180	104219743	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.867000	0.69597	2.365000	0.80145	0.491000	0.48974	GTG		0.612	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		C	104229753	G	C	104229753	3	2	172	1	0	0	0	0	1	0	0	0	16099	1029	36	3	178	3	TMEM180	10	104229753	Missense_Mutation	SNP	G	TCGA-23-1026-01B-01W-0484-10	72438452	104229753	31304994	15	9815											
NAT10	55226	hgsc.bcm.edu	37	11	34158196	34158196	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr11:34158196G>A	ENST00000257829.3	+	20	2242	c.2036G>A	c.(2035-2037)aGc>aAc	p.S679N	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.S607N	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	679	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.S679N(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CAGGCTGTCAGCTTGTTGGAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	11											97	86	90					11																	34158196		2202	4298	6500	34114772	SO:0001583	missense	55226			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2036G>A	11.37:g.34158196G>A	ENSP00000257829:p.Ser679Asn		34114772	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652334	0.47362	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.31769	1.48;1.48	5.4	5.4	0.78164	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.035614	0.85682	D	0.000000	T	0.27798	0.0684	L	0.33710	1.025	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.03060	-1.1077	10	0.29301	T	0.29	-17.3389	19.1798	0.93619	0.0:0.0:1.0:0.0	.	679	Q9H0A0	NAT10_HUMAN	N	679;607	ENSP00000257829:S679N;ENSP00000433011:S607N	ENSP00000257829:S679N	S	+	2	0	NAT10	34114772	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	9.869000	0.99810	2.537000	0.85549	0.561000	0.74099	AGC		0.557	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		A	34158196	G	A	34158196	3	1	172	1	0	0	0	0	1	0	0	0	10174	971	34	2	2110	2	NAT10	11	34158196	Missense_Mutation	SNP	G	TCGA-23-1026-01B-01W-0484-10		34158196	100848320	16	9816											
SFRS2IP	9169	hgsc.bcm.edu	37	12	46320485	46320489	+	Frame_Shift_Del	DEL	TTTTC	TTTTC	-			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	TTTTC	TTTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr12:46320485_46320489delTTTTC	ENST00000369367.3	-	11	3228_3232	c.2995_2999delGAAAA	c.(2995-3000)gaaaaafs	p.EK999fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.EK807fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.EK999fs|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.EK684fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	999					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E999fs*2(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGTCATTTTTTTCTTTTCTTGTA	0.39																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								44606756	SO:0001589	frameshift_variant	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2995_2999delGAAAA	12.37:g.46320490_46320494delTTTTC	ENSP00000358374:p.Glu999fs		44606752	A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	CCDS8748.2																																																																																				0.39	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		-	46320489	TTTTC	-	46320485	7	5	172	1	0	1	0	1	0	0	0	0	14180	1841	64	0	1412	0	SFRS2IP	12	46320485	Frame_Shift_Del	DEL	TTTTC	TCGA-23-1026-01B-01W-0484-10		46320485	87531410	17	9817											
TMPO	7112	hgsc.bcm.edu	37	12	98921763	98921763	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr12:98921763T>C	ENST00000556029.1	+	2	735	c.379T>C	c.(379-381)Tac>Cac	p.Y127H	TMPO_ENST00000266732.4_Missense_Mutation_p.Y127H|TMPO_ENST00000393053.2_Missense_Mutation_p.Y127H|TMPO_ENST00000261210.5_Missense_Mutation_p.Y127H|TMPO_ENST00000343315.5_Missense_Mutation_p.Y127H	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	127	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.Y127H(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTTGTGAAATACGGAGTGAA	0.353																																																2	Substitution - Missense(2)	ovary(2)	12											158	163	161					12																	98921763		2203	4300	6503	97445894	SO:0001583	missense	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.379T>C	12.37:g.98921763T>C	ENSP00000450627:p.Tyr127His		97445894	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748818	0.30955	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000266732;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	4.89	3.74	0.42951	LEM-like domain (4);Lamino-associated polypeptide 2/emerin (6);	0.055722	0.85682	D	0.000000	T	0.52821	0.1758	L	0.43701	1.375	0.53005	D	0.999968	B;B;B;P	0.36086	0.285;0.013;0.121;0.536	B;B;B;P	0.48552	0.377;0.022;0.111;0.581	T	0.47560	-0.9108	10	0.38643	T	0.18	.	8.3687	0.32402	0.0:0.1644:0.0:0.8356	.	160;127;127;127	Q59G12;P42167;A2T926;P42166	.;LAP2B_HUMAN;.;LAP2A_HUMAN	H	127;127;127;127;127;34	ENSP00000450627:Y127H;ENSP00000340251:Y127H;ENSP00000266732:Y127H;ENSP00000376773:Y127H;ENSP00000261210:Y127H;ENSP00000451552:Y34H	ENSP00000261210:Y127H	Y	+	1	0	TMPO	97445894	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.283000	0.51701	0.715000	0.32103	0.482000	0.46254	TAC		0.353	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		C	98921763	T	C	98921763	3	2	172	1	0	0	0	0	1	0	0	0	16237	1406	49	4	385	4	TMPO	12	98921763	Missense_Mutation	SNP	T	TCGA-23-1026-01B-01W-0484-10	52601278	98921763	34930132	18	9818											
SETDB2	83852	hgsc.bcm.edu	37	13	50055232	50055232	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr13:50055232C>A	ENST00000317257.8	+	9	1997	c.1172C>A	c.(1171-1173)aCa>aAa	p.T391K	SETDB2_ENST00000354234.4_Missense_Mutation_p.T379K|SETDB2_ENST00000258672.5_Missense_Mutation_p.T379K	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	391	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)	p.T391K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GACAGAGGGACATTTGTTTGC	0.398																																																1	Substitution - Missense(1)	ovary(1)	13											143	128	133					13																	50055232		2203	4300	6503	48953233	SO:0001583	missense	83852			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1172C>A	13.37:g.50055232C>A	ENSP00000326477:p.Thr391Lys		48953233	Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162959	0.78226	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;D	0.82984	-1.67;-1.67;-1.67	5.72	4.88	0.63580	SET domain (3);	0.049083	0.85682	D	0.000000	D	0.89805	0.6821	M	0.66939	2.045	0.45139	D	0.998154	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;D	0.97110	0.996;0.999;1.0;0.911	D	0.90856	0.4735	10	0.87932	D	0	.	14.6798	0.69009	0.0:0.9305:0.0:0.0695	.	391;379;391;109	Q96T68-3;Q96T68-2;Q96T68;Q59FW0	.;.;SETB2_HUMAN;.	K	379;391;379	ENSP00000346175:T379K;ENSP00000326477:T391K;ENSP00000258672:T379K	ENSP00000258672:T379K	T	+	2	0	SETDB2	48953233	0.999000	0.42202	0.819000	0.32651	0.952000	0.60782	6.008000	0.70739	1.436000	0.47453	0.655000	0.94253	ACA		0.398	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		A	50055232	C	A	50055232	3	1	172	1	0	0	0	0	1	0	0	0	14142	478	17	3	1202	3	SETDB2	13	50055232	Missense_Mutation	SNP	C	TCGA-23-1026-01B-01W-0484-10		50055232	65114646	19	9819											
SLITRK1	114798	hgsc.bcm.edu	37	13	84455109	84455109	+	Silent	SNP	G	G	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr13:84455109G>T	ENST00000377084.2	-	1	1419	c.534C>A	c.(532-534)ccC>ccA	p.P178P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	178					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.P178P(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGTGGGTGATGGGCACATACT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	13											95	94	94					13																	84455109		2203	4300	6503	83353110	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.534C>A	13.37:g.84455109G>T			83353110	Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	CCDS9464.1																																																																																				0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		T	84455109	G	T	84455109	2	4	172	1	0	0	0	0	0	0	0	1	14745	1335	47	3		3	SLITRK1	13	84455109	Silent	SNP	G	TCGA-23-1026-01B-01W-0484-10	34399877	84455109	30714769	20	9820											
GCNT3	9245	hgsc.bcm.edu	37	15	59911235	59911235	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr15:59911235A>T	ENST00000396065.1	+	3	1246	c.798A>T	c.(796-798)aaA>aaT	p.K266N	GCNT3_ENST00000560585.1_Missense_Mutation_p.K266N	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	266					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.K266N(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCGCTGGAAATATCACTTTG	0.433																																																1	Substitution - Missense(1)	ovary(1)	15											164	173	170					15																	59911235		2190	4290	6480	57698527	SO:0001583	missense	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.798A>T	15.37:g.59911235A>T	ENSP00000379377:p.Lys266Asn		57698527		Missense_Mutation	SNP	ENST00000396065.1	37	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	A	9.322	1.058369	0.19987	.	.	ENSG00000140297	ENST00000396065	T	0.14893	2.47	5.95	3.43	0.39272	.	0.481778	0.23870	N	0.043744	T	0.20088	0.0483	M	0.72353	2.195	0.33914	D	0.640041	P	0.40360	0.714	B	0.39379	0.298	T	0.24261	-1.0165	10	0.51188	T	0.08	.	8.4289	0.32746	0.7066:0.0:0.2934:0.0	.	266	O95395	GCNT3_HUMAN	N	266	ENSP00000379377:K266N	ENSP00000379377:K266N	K	+	3	2	GCNT3	57698527	0.483000	0.25956	0.999000	0.59377	0.033000	0.12548	0.579000	0.23788	0.421000	0.25980	-0.250000	0.11733	AAA		0.433	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		T	59911235	A	T	59911235	3	4	172	1	0	0	0	0	1	0	0	0	6302	98	4	5	800	5	GCNT3	15	59911235	Missense_Mutation	SNP	A	TCGA-23-1026-01B-01W-0484-10		59911235	42620157	21	9821											
C16orf5	29965	hgsc.bcm.edu	37	16	4562577	4562577	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr16:4562577C>A	ENST00000399599.3	-	5	1171	c.623G>T	c.(622-624)tGc>tTc	p.C208F	CDIP1_ENST00000563507.1_Missense_Mutation_p.C169F|CDIP1_ENST00000562334.1_Missense_Mutation_p.C129F|CDIP1_ENST00000564828.1_3'UTR|CDIP1_ENST00000563332.2_Missense_Mutation_p.C208F|CDIP1_ENST00000567695.1_Missense_Mutation_p.C208F			Q9H305	CDIP1_HUMAN	cell death-inducing p53 target 1	208					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	nucleus (GO:0005634)		p.C208F(1)									GCTCCGTTAGCACAGGCGCTT	0.607																																																1	Substitution - Missense(1)	ovary(1)	16											59	63	62					16																	4562577		2108	4246	6354	4502578	SO:0001583	missense	29965			AF131218	CCDS42114.1, CCDS58419.1, CCDS58420.1	16p13.3	2012-11-14	2012-11-14	2012-11-14	ENSG00000089486	ENSG00000089486			13234	protein-coding gene	gene with protein product	"cell death involved p53-target", "lipopolysaccharide-induced TNF factor-like"	610503	"chromosome 16 open reading frame 5"	C16orf5		10570909, 17599062	Standard	NM_013399		Approved	CDIP, LITAFL	uc002cww.3	Q9H305	OTTHUMG00000177172	ENST00000399599.3:c.623G>T	16.37:g.4562577C>A	ENSP00000382508:p.Cys208Phe		4502578	A8K7M1|B4DFU1|B4DY75|D3DUD6|Q96ID8|Q9H0Q4|Q9P112	Missense_Mutation	SNP	ENST00000399599.3	37	CCDS42114.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957722	0.92726	.	.	ENSG00000089486	ENST00000399599	D	0.93659	-3.26	5.85	5.85	0.93711	.	.	.	.	.	D	0.95551	0.8554	L	0.48877	1.53	0.80722	D	1	D;D;D	0.63046	0.98;0.992;0.98	D;D;D	0.74023	0.962;0.982;0.974	D	0.95680	0.8731	9	0.87932	D	0	-8.7833	18.7358	0.91753	0.0:1.0:0.0:0.0	.	129;169;208	B4DY75;B4DFU1;Q9H305	.;.;LITFL_HUMAN	F	208	ENSP00000382508:C208F	ENSP00000382508:C208F	C	-	2	0	C16orf5	4502578	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.629000	0.83207	2.767000	0.95098	0.655000	0.94253	TGC		0.607	CDIP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435718.2	NM_013399		A	4562577	C	A	4562577	3	1	172	1	0	0	0	0	1	0	0	0	1817	710	25	3	7	3	C16orf5	16	4562577	Missense_Mutation	SNP	C	TCGA-23-1026-01B-01W-0484-10		4562577	85792176	22	9822											
TP53	7157	hgsc.bcm.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr17:7578535T>C	ENST00000269305.4	-	5	584	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.K132R|TP53_ENST00000413465.2_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000420246.2_Missense_Mutation_p.K132R	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)	GCAAAACATCTTGTTGAGGGC	0.562		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"	90	Substitution - Missense(64)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(5)	lung(15)|ovary(12)|large_intestine(11)|central_nervous_system(8)|oesophagus(7)|breast(5)|bone(5)|upper_aerodigestive_tract(4)|biliary_tract(4)|urinary_tract(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|kidney(2)|prostate(2)|liver(2)|stomach(1)|endometrium(1)|skin(1)|pancreas(1)	17											46	47	47					17																	7578535		2203	4300	6503	7519260	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.395A>G	17.37:g.7578535T>C	ENSP00000269305:p.Lys132Arg		7519260	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	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072716	0.76415	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.48	4.41	0.53225	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	0.99753	0.9901	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.991;0.985;0.989;0.995;0.988;1.0	D	0.97766	1.0223	10	0.87932	D	0	-14.0777	9.8103	0.40820	0.0:0.082:0.0:0.918	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132R;ENSP00000352610:K132R;ENSP00000269305:K132R;ENSP00000398846:K132R;ENSP00000391127:K132R;ENSP00000391478:K132R;ENSP00000423862:K39R;ENSP00000424104:K132R	ENSP00000269305:K132R	K	-	2	0	TP53	7519260	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.993000	0.88291	1.020000	0.39573	-0.256000	0.11100	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578535	T	C	7578535	3	2	172	1	0	0	0	0	1	0	0	0	16381	1609	56	4	903	4	TP53	17	7578535	Missense_Mutation	SNP	T	TCGA-23-1026-01B-01W-0484-10		7578535	73616675	23	9823											
BRCA1	672	hgsc.bcm.edu	37	17	41245110	41245110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr17:41245110delC	ENST00000357654.3	-	10	2556	c.2438delG	c.(2437-2439)ggafs	p.G813fs	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.G813fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.G813fs|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.G766fs|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.G813fs|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.G517fs|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	813					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G813fs*2(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGAATTAGTCCCTTGGGGTT	0.403			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Deletion - Frameshift(1)	ovary(1)	17											223	222	222					17																	41245110		2203	4300	6503	38498636	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2438delG	17.37:g.41245110delC	ENSP00000350283:p.Gly813fs		38498636	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	ENST00000357654.3	37	CCDS11453.1																																																																																				0.403	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		-	41245110	C	-	41245110	7	5	172	1	0	1	0	1	0	0	0	0	1498	855	30	0	3279	0	BRCA1	17	41245110	Frame_Shift_Del	DEL	C	TCGA-23-1026-01B-01W-0484-10	33666575	41245110	39950100	24	9824											
ZNF554	115196	hgsc.bcm.edu	37	19	2832405	2832405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr19:2832405delC	ENST00000317243.5	+	4	556	c.358delC	c.(358-360)cttfs	p.L120fs	ZNF554_ENST00000591265.1_Frame_Shift_Del_p.L120fs	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	120	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L120fs*18(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTATTTACTTTTTCAACC	0.478																																																1	Deletion - Frameshift(1)	ovary(1)	19											149	148	148					19																	2832405		1877	4105	5982	2783405	SO:0001589	frameshift_variant	115196			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.358delC	19.37:g.2832405delC	ENSP00000321132:p.Leu120fs		2783405	Q8NAT3|Q9BWN3	Frame_Shift_Del	DEL	ENST00000317243.5	37	CCDS42462.1																																																																																				0.478	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		-	2832405	C	-	2832405	7	5	172	1	0	1	0	1	0	0	0	0	17985	565	20	0	372	0	ZNF554	19	2832405	Frame_Shift_Del	DEL	C	TCGA-23-1026-01B-01W-0484-10		2832405	56296578	25	9825											
DDX49	54555	hgsc.bcm.edu	37	19	19037162	19037162	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr19:19037162G>T	ENST00000247003.4	+	10	1145	c.1078G>T	c.(1078-1080)Gtg>Ttg	p.V360L	DDX49_ENST00000599156.1_3'UTR|DDX49_ENST00000438170.2_3'UTR|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	360	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.V360L(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CATCCACCTGGTGCACGCCAT	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											75	49	58					19																	19037162		2194	4277	6471	18898162	SO:0001583	missense	54555				CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"DEAD-boxes"	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.1078G>T	19.37:g.19037162G>T	ENSP00000247003:p.Val360Leu		18898162	E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	G	5.109	0.205661	0.09704	.	.	ENSG00000105671	ENST00000247003	T	0.04083	3.71	4.68	-1.53	0.08611	Helicase, C-terminal (1);	0.379970	0.26241	N	0.025507	T	0.01661	0.0053	N	0.02751	-0.505	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51252	-0.8729	10	0.02654	T	1	-8.19	11.7456	0.51817	0.0:0.3799:0.5042:0.1159	.	360	Q9Y6V7	DDX49_HUMAN	L	360	ENSP00000247003:V360L	ENSP00000247003:V360L	V	+	1	0	DDX49	18898162	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	2.512000	0.45485	0.010000	0.14839	0.561000	0.74099	GTG		0.637	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070		T	19037162	G	T	19037162	3	4	172	1	0	0	0	0	1	0	0	0	4366	1261	44	3	1116	3	DDX49	19	19037162	Missense_Mutation	SNP	G	TCGA-23-1026-01B-01W-0484-10	16204757	19037162	40091821	26	9826											
PORCN	64840	hgsc.bcm.edu	37	X	48374143	48374143	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chrX:48374143G>A	ENST00000326194.6	+	10	1028	c.985G>A	c.(985-987)Gct>Act	p.A329T	PORCN_ENST00000355961.4_Missense_Mutation_p.A324T|PORCN_ENST00000367574.4_Missense_Mutation_p.A247T|PORCN_ENST00000355092.3_Missense_Mutation_p.A323T|PORCN_ENST00000537758.1_Missense_Mutation_p.A329T|PORCN_ENST00000361988.3_Missense_Mutation_p.A318T|PORCN_ENST00000359882.4_Missense_Mutation_p.A323T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	329					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.A329T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCTTCTCGGCTGTGCTGGT	0.612																																																1	Substitution - Missense(1)	ovary(1)	X											53	50	51					X																	48374143		2203	4300	6503	48259087	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.985G>A	X.37:g.48374143G>A	ENSP00000322304:p.Ala329Thr		48259087	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845188	0.91197	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.998;1.0;1.0	D	0.91072	0.4893	10	0.87932	D	0	-13.6158	14.4711	0.67517	0.0:0.0:1.0:0.0	.	323;329;247;318;324	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	T	323;329;247;324;318;329;323	ENSP00000352946:A323T;ENSP00000446401:A329T;ENSP00000356546:A247T;ENSP00000348233:A324T;ENSP00000354978:A318T;ENSP00000322304:A329T;ENSP00000347207:A323T	ENSP00000322304:A329T	A	+	1	0	PORCN	48259087	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	8.900000	0.92551	2.084000	0.62774	0.529000	0.55759	GCT		0.612	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		A	48374143	G	A	48374143	3	1	172	1	0	0	0	0	1	0	0	0	12258	1203	42	2	1023	2	PORCN	23	48374143	Missense_Mutation	SNP	G	TCGA-23-1026-01B-01W-0484-10		48374143	106896417	27	9827											
ERCC6L	54821	hgsc.bcm.edu	37	X	71426275	71426275	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chrX:71426275G>A	ENST00000334463.3	-	2	2477	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	ERCC6L_ENST00000373657.1_Missense_Mutation_p.P658L|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	781					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P781L(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACCCTCTTTGGGCAGATCATC	0.413																																																1	Substitution - Missense(1)	ovary(1)	X											132	120	124					X																	71426275		2203	4300	6503	71343000	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2342C>T	X.37:g.71426275G>A	ENSP00000334675:p.Pro781Leu		71343000	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037925	0.35989	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90504	-2.65;-2.68	5.04	4.11	0.48088	.	.	.	.	.	D	0.86418	0.5928	L	0.44542	1.39	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.77915	-0.2409	9	0.49607	T	0.09	-1.4678	11.1586	0.48501	0.0:0.0:0.8157:0.1843	.	781	Q2NKX8	ERC6L_HUMAN	L	658;781	ENSP00000362761:P658L;ENSP00000334675:P781L	ENSP00000334675:P781L	P	-	2	0	ERCC6L	71343000	0.000000	0.05858	0.005000	0.12908	0.101000	0.19017	0.184000	0.16939	2.230000	0.72887	0.594000	0.82650	CCC		0.413	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		A	71426275	G	A	71426275	3	1	172	1	0	0	0	0	1	0	0	0	5218	1232	43	2	1414	2	ERCC6L	23	71426275	Missense_Mutation	SNP	G	TCGA-23-1026-01B-01W-0484-10	23052132	71426275	83844285	28	9828											
IFI44	10561	broad.mit.edu	37	1	79116109	79116109	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr1:79116109A>G	ENST00000370747.4	+	2	314	c.229A>G	c.(229-231)Atc>Gtc	p.I77V	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	77					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.I77V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTATGCTTCCATCATCCTTTT	0.348																																																1	Substitution - Missense(1)	ovary(1)	1											132	135	134					1																	79116109		2203	4300	6503	78888697	SO:0001583	missense	10561			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.229A>G	1.37:g.79116109A>G	ENSP00000359783:p.Ile77Val		78888697	B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	CCDS688.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.656789	0.00779	.	.	ENSG00000137965	ENST00000370747	T	0.40756	1.02	3.03	-6.07	0.02158	TLDc (1);	0.948341	0.08700	N	0.906574	T	0.07638	0.0192	L	0.43923	1.385	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.33752	-0.9856	10	0.02654	T	1	4.0E-4	6.8065	0.23780	0.2654:0.0:0.5756:0.159	.	77;77	B7ZB11;Q8TCB0	.;IFI44_HUMAN	V	77	ENSP00000359783:I77V	ENSP00000359783:I77V	I	+	1	0	IFI44	78888697	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.675000	0.05227	-1.532000	0.01747	-1.451000	0.01035	ATC		0.348	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		G	79116109	A	G	79116109	3	3	173	1	0	0	0	0	1	0	0	0	7517	217	8	4	231	4	IFI44	1	79116109	Missense_Mutation	SNP	A	TCGA-23-1027-01A-02W-0486-08		79116109	170134512	1	9829											
KCNA3	3738	broad.mit.edu	37	1	111216396	111216396	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr1:111216396C>T	ENST00000369769.2	-	1	1259	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	346					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.E346K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TCGGCCAGCTCGGTACCCAGA	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											91	92	91					1																	111216396		2203	4300	6503	111017919	SO:0001583	missense	3738			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1036G>A	1.37:g.111216396C>T	ENSP00000358784:p.Glu346Lys		111017919	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378057	0.61735	.	.	ENSG00000177272	ENST00000369769	D	0.98345	-4.88	5.47	5.47	0.80525	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98779	0.9589	M	0.82630	2.6	0.80722	D	1	D	0.63046	0.992	P	0.60236	0.871	D	0.99474	1.0946	10	0.66056	D	0.02	.	19.3206	0.94237	0.0:1.0:0.0:0.0	.	346	P22001	KCNA3_HUMAN	K	346	ENSP00000358784:E346K	ENSP00000358784:E346K	E	-	1	0	KCNA3	111017919	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.727000	0.84838	2.573000	0.86826	0.655000	0.94253	GAG		0.547	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		T	111216396	C	T	111216396	3	4	173	1	0	0	0	0	1	0	0	0	8004	893	31	1	695	1	KCNA3	1	111216396	Missense_Mutation	SNP	C	TCGA-23-1027-01A-02W-0486-08	32100287	111216396	138034225	2	9830											
IQGAP3	128239	broad.mit.edu	37	1	156503658	156503658	+	Nonsense_Mutation	SNP	C	C	A	rs550783446		TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr1:156503658C>A	ENST00000361170.2	-	31	3893	c.3883G>T	c.(3883-3885)Gag>Tag	p.E1295*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1295					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.E1295*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTGGTGCTCCAGCAACAGC	0.592																																																1	Substitution - Nonsense(1)	ovary(1)	1											62	51	55					1																	156503658		2203	4300	6503	154770282	SO:0001587	stop_gained	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3883G>T	1.37:g.156503658C>A	ENSP00000354451:p.Glu1295*		154770282	Q5T3H8	Nonsense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	41	8.793662	0.98956	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.99	4.99	0.66335	.	0.059563	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-25.7785	17.365	0.87360	0.0:1.0:0.0:0.0	.	.	.	.	X	1295	.	ENSP00000354451:E1295X	E	-	1	0	IQGAP3	154770282	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	7.609000	0.82925	2.757000	0.94681	0.462000	0.41574	GAG		0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		A	156503658	C	A	156503658	4	1	173	1	0	0	0	0	0	1	0	0	7816	864	30	3	1044	3	IQGAP3	1	156503658	Nonsense_Mutation	SNP	C	TCGA-23-1027-01A-02W-0486-08	45287262	156503658	92746963	3	9831											
SEC16B	89866	broad.mit.edu	37	1	177917070	177917070	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr1:177917070C>G	ENST00000308284.6	-	13	1642	c.1553G>C	c.(1552-1554)gGa>gCa	p.G518A	SEC16B_ENST00000464631.2_Missense_Mutation_p.G519A|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	518					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.G519A(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTGCTTTTCTCCACAACACTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											42	44	43					1																	177917070		1913	4058	5971	176183693	SO:0001583	missense	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1553G>C	1.37:g.177917070C>G	ENSP00000308339:p.Gly518Ala		176183693	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.00|16.00	2.998513|2.998513	0.54147|0.54147	.|.	.|.	ENSG00000120341|ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472;ENST00000464631|ENST00000527976	T;T|.	0.50813|.	2.33;0.73|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.67970|0.67970	0.2950|0.2950	L|L	0.42581|0.42581	1.335|1.335	0.49051|0.49051	D|D	0.999744|0.999744	P;B;P;B;B|.	0.48230|.	0.655;0.127;0.907;0.02;0.016|.	B;B;P;B;B|.	0.48654|.	0.405;0.132;0.585;0.044;0.083|.	T|T	0.63409|0.63409	-0.6644|-0.6644	10|5	0.24483|.	T|.	0.36|.	-25.5089|-25.5089	19.0314|19.0314	0.92959|0.92959	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	73;519;519;518;215|.	B1AM07;E9PK14;B1AM08;Q96JE7;Q96PW0|.	.;.;.;SC16B_HUMAN;.|.	A|C	518;202;233;519|101	ENSP00000308339:G518A;ENSP00000431727:G519A|.	ENSP00000239472:G233A|.	G|W	-|-	2|3	0|0	AL359075.1|AL359075.1	176183693|176183693	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	5.358000|5.358000	0.66064|0.66064	2.582000|2.582000	0.87167|0.87167	0.557000|0.557000	0.71058|0.71058	GGA|TGG		0.463	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		G	177917070	C	G	177917070	3	3	173	1	0	0	0	0	1	0	0	0	13990	855	30	3	1685	3	SEC16B	1	177917070	Missense_Mutation	SNP	C	TCGA-23-1027-01A-02W-0486-08	21413412	177917070	71333551	4	9832											
ANTXR1	84168	broad.mit.edu	37	2	69297801	69297801	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr2:69297801G>C	ENST00000303714.4	+	4	641	c.319G>C	c.(319-321)Gaa>Caa	p.E107Q	ANTXR1_ENST00000409349.3_Missense_Mutation_p.E107Q|ANTXR1_ENST00000409829.3_Missense_Mutation_p.E107Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	107	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.E107Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCAAGGCCTAGAAGAACTCCA	0.353									Familial Infantile Hemangioma																																							1	Substitution - Missense(1)	ovary(1)	2											89	90	89					2																	69297801		2203	4300	6503	69151305	SO:0001583	missense	84168	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.319G>C	2.37:g.69297801G>C	ENSP00000301945:p.Glu107Gln		69151305	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534873	0.45073	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	T;T;T	0.67171	-0.25;-0.25;-0.25	6.03	6.03	0.97812	von Willebrand factor, type A (3);	0.046520	0.85682	D	0.000000	T	0.52141	0.1716	N	0.16266	0.395	0.48087	D	0.999582	B;B;B;B	0.28350	0.103;0.05;0.176;0.208	B;B;B;B	0.22753	0.041;0.019;0.036;0.024	T	0.46965	-0.9153	10	0.31617	T	0.26	-20.7668	18.0507	0.89347	0.0:0.0:1.0:0.0	.	107;107;107;107	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3	ANTR1_HUMAN;.;.;.	Q	107	ENSP00000301945:E107Q;ENSP00000387058:E107Q;ENSP00000386494:E107Q	ENSP00000301945:E107Q	E	+	1	0	ANTXR1	69151305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.316000	0.65815	2.861000	0.98227	0.655000	0.94253	GAA		0.353	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		C	69297801	G	C	69297801	3	2	173	1	0	0	0	0	1	0	0	0	711	943	33	3	333	3	ANTXR1	2	69297801	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08		69297801	173901572	5	9833											
ZAP70	7535	broad.mit.edu	37	2	98351001	98351001	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr2:98351001A>G	ENST00000264972.5	+	9	1123	c.908A>G	c.(907-909)gAc>gGc	p.D303G	ZAP70_ENST00000442208.1_Missense_Mutation_p.D177G|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_5'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	303	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D303G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACGTCCCCAGACAAACCGCGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	2											78	70	73					2																	98351001		2203	4300	6503	97717433	SO:0001583	missense	7535			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.908A>G	2.37:g.98351001A>G	ENSP00000264972:p.Asp303Gly		97717433	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	A	8.554	0.876262	0.17395	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	T;T	0.72725	-0.67;-0.68	5.01	2.62	0.31277	.	0.882685	0.09610	N	0.778961	T	0.52403	0.1732	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35251	-0.9796	10	0.23302	T	0.38	.	6.9697	0.24642	0.7297:0.0:0.2703:0.0	.	177;303	P43403-3;P43403	.;ZAP70_HUMAN	G	303;177	ENSP00000264972:D303G;ENSP00000411141:D177G	ENSP00000264972:D303G	D	+	2	0	ZAP70	97717433	0.474000	0.25886	0.009000	0.14445	0.093000	0.18481	0.561000	0.23515	0.459000	0.27016	-0.290000	0.09829	GAC		0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			G	98351001	A	G	98351001	3	3	173	1	0	0	0	0	1	0	0	0	17514	275	10	4	934	4	ZAP70	2	98351001	Missense_Mutation	SNP	A	TCGA-23-1027-01A-02W-0486-08	29053200	98351001	144848372	6	9834											
SF3B1	23451	broad.mit.edu	37	2	198257819	198257819	+	Silent	SNP	C	C	T			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr2:198257819C>T	ENST00000335508.6	-	24	3724	c.3633G>A	c.(3631-3633)ttG>ttA	p.L1211L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1211					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.L1211L(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATAGTTCAACAAGTGATTCA	0.458			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	1	Substitution - coding silent(1)	ovary(1)	2											123	107	113					2																	198257819		2203	4300	6503	197966064	SO:0001819	synonymous_variant	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3633G>A	2.37:g.198257819C>T			197966064	E9PCH3	Silent	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	8.958	0.969800	0.18659	.	.	ENSG00000115524	ENST00000424674	.	.	.	5.39	2.55	0.30701	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53858	-0.8379	4	.	.	.	.	9.9261	0.41494	0.0:0.774:0.0:0.226	.	.	.	.	Y	227	.	.	C	-	2	0	SF3B1	197966064	0.999000	0.42202	0.968000	0.41197	0.976000	0.68499	0.736000	0.26130	0.645000	0.30675	0.491000	0.48974	TGT		0.458	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			T	198257819	C	T	198257819	2	4	173	1	0	0	0	0	0	0	0	1	14152	477	17	2		2	SF3B1	2	198257819	Silent	SNP	C	TCGA-23-1027-01A-02W-0486-08	99906818	198257819	44941554	7	9835											
DNAH1	25981	broad.mit.edu	37	3	52357823	52357823	+	Splice_Site	SNP	G	G	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr3:52357823G>A	ENST00000420323.2	+	3	594		c.e3-1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTTGGTTTCAGGAGGTATGTC	0.622																																																1	Unknown(1)	ovary(1)	3											48	49	49					3																	52357823		1916	4132	6048	52332863	SO:0001630	splice_region_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.334-1G>A	3.37:g.52357823G>A			52332863	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633947	0.29068	.	.	ENSG00000114841	ENST00000420323	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1855	0.86866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52332863	1.000000	0.71417	0.960000	0.40013	0.038000	0.13279	5.952000	0.70282	2.650000	0.89964	0.655000	0.94253	.		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Intron	A	52357823	G	A	52357823	5	1	173	1	0	0	0	0	0	0	1	0	4597	1014	35	2	339	2	DNAH1	3	52357823	Splice_Site	SNP	G	TCGA-23-1027-01A-02W-0486-08		52357823	145664607	8	9836											
ARGFX	503582	broad.mit.edu	37	3	121304901	121304901	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr3:121304901G>T	ENST00000334384.3	+	4	412	c.402G>T	c.(400-402)aaG>aaT	p.K134N		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K134N(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TCAAATTGAAGAAGCAGCAGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	3											83	80	81					3																	121304901		2203	4300	6503	122787591	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.402G>T	3.37:g.121304901G>T	ENSP00000335578:p.Lys134Asn		122787591		Missense_Mutation	SNP	ENST00000334384.3	37	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889861	0.52014	.	.	ENSG00000186103	ENST00000334384	D	0.98313	-4.86	3.17	2.3	0.28687	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.717195	0.11854	N	0.523099	D	0.98036	0.9353	M	0.86343	2.81	0.09310	N	1	P	0.47841	0.901	P	0.49683	0.619	D	0.94358	0.7585	10	0.87932	D	0	-4.2254	6.5352	0.22350	0.1356:0.0:0.8644:0.0	.	134	A6NJG6	ARGFX_HUMAN	N	134	ENSP00000335578:K134N	ENSP00000335578:K134N	K	+	3	2	ARGFX	122787591	0.017000	0.18338	0.022000	0.16811	0.399000	0.30720	1.225000	0.32551	0.908000	0.36671	-0.254000	0.11334	AAG		0.517	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		T	121304901	G	T	121304901	3	4	173	1	0	0	0	0	1	0	0	0	859	933	33	3	416	3	ARGFX	3	121304901	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08	68947078	121304901	76717529	9	9837											
ANXA5	308	broad.mit.edu	37	4	122592792	122592792	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr4:122592792C>G	ENST00000296511.5	-	10	916	c.631G>C	c.(631-633)Gac>Cac	p.D211H	ANXA5_ENST00000515017.1_Missense_Mutation_p.D111H|ANXA5_ENST00000501272.2_Missense_Mutation_p.D151H	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	211					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)	p.D211H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						ATGTACTTGTCAAACACTAGA	0.368																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)											1	Substitution - Missense(1)	ovary(1)	4											109	101	103					4																	122592792		2203	4299	6502	122812242	SO:0001583	missense	308			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.631G>C	4.37:g.122592792C>G	ENSP00000296511:p.Asp211His		122812242	D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737480	0.69304	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	T;T;T	0.03496	3.91;3.91;3.91	5.45	5.45	0.79879	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.58101	1.795	0.80722	D	1	P;D;D;D	0.89917	0.468;0.999;1.0;0.996	B;D;D;D	0.77004	0.165;0.972;0.989;0.972	T	0.00073	-1.2125	10	0.62326	D	0.03	.	18.8902	0.92397	0.0:1.0:0.0:0.0	.	111;151;211;211	D6RBE9;D6RBL5;E7ENQ5;P08758	.;.;.;ANXA5_HUMAN	H	211;211;151;111	ENSP00000296511:D211H;ENSP00000424106:D151H;ENSP00000424199:D111H	ENSP00000296511:D211H	D	-	1	0	ANXA5	122812242	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.252000	0.72447	2.559000	0.86315	0.591000	0.81541	GAC		0.368	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		G	122592792	C	G	122592792	3	3	173	1	0	0	0	0	1	0	0	0	721	826	29	3	347	3	ANXA5	4	122592792	Missense_Mutation	SNP	C	TCGA-23-1027-01A-02W-0486-08		122592792	68561484	10	9838											
RXRB	6257	broad.mit.edu	37	6	33165606	33165606	+	Silent	SNP	C	C	T			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr6:33165606C>T	ENST00000374680.3	-	4	964	c.753G>A	c.(751-753)aaG>aaA	p.K251K	RXRB_ENST00000374685.4_Silent_p.K251K|RXRB_ENST00000413614.2_Silent_p.K155K|SLC39A7_ENST00000374675.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000544186.1_Silent_p.K61K	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	251					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K251K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCGCTGGCGCTTGTCCACTG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	6											79	66	71					6																	33165606		1511	2709	4220	33273584	SO:0001819	synonymous_variant	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.753G>A	6.37:g.33165606C>T			33273584	P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	CCDS4768.1																																																																																				0.577	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		T	33165606	C	T	33165606	2	4	173	1	0	0	0	0	0	0	0	1	13767	796	28	2		2	RXRB	6	33165606	Silent	SNP	C	TCGA-23-1027-01A-02W-0486-08		33165606	137949461	11	9839											
EFHC1	114327	broad.mit.edu	37	6	52329846	52329846	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr6:52329846A>C	ENST00000371068.5	+	6	1173	c.1070A>C	c.(1069-1071)gAg>gCg	p.E357A	EFHC1_ENST00000433625.2_Missense_Mutation_p.E266A|EFHC1_ENST00000538167.1_Missense_Mutation_p.E338A	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	357	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.		E -> K (in dbSNP:rs505760).			axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.E357A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TATTACAAAGAGAAGTTTGGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											93	85	88					6																	52329846		2203	4300	6503	52437805	SO:0001583	missense	114327			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1070A>C	6.37:g.52329846A>C	ENSP00000360107:p.Glu357Ala		52437805	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370828	0.42003	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.69175	-0.13;-0.38;-0.34	5.38	4.2	0.49525	Uncharacterised domain DM10 (2);	0.615460	0.19068	N	0.123572	T	0.36880	0.0983	L	0.29908	0.895	0.30424	N	0.777787	B;B;B	0.28636	0.218;0.015;0.035	B;B;B	0.33620	0.167;0.007;0.027	T	0.18555	-1.0333	10	0.24483	T	0.36	-10.8625	12.5017	0.55960	0.8603:0.1397:0.0:0.0	.	338;266;357	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	A	357;266;338	ENSP00000360107:E357A;ENSP00000416492:E266A;ENSP00000444521:E338A	ENSP00000360107:E357A	E	+	2	0	EFHC1	52437805	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.300000	0.59079	0.862000	0.35528	0.477000	0.44152	GAG		0.393	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		C	52329846	A	C	52329846	3	2	173	1	0	0	0	0	1	0	0	0	4946	304	11	5	1102	5	EFHC1	6	52329846	Missense_Mutation	SNP	A	TCGA-23-1027-01A-02W-0486-08	19164240	52329846	118785221	12	9840											
RIMS1	22999	broad.mit.edu	37	6	73108726	73108726	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr6:73108726G>A	ENST00000521978.1	+	33	4790	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q	RIMS1_ENST00000520567.1_Missense_Mutation_p.R1247Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.R403Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1386Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1276Q|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517827.1_Missense_Mutation_p.R731Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1380Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.R1446Q|RIMS1_ENST00000414192.2_Missense_Mutation_p.R124Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R917Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1196Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R665Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R722Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1380Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1597	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R1597Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAATTGCACGAAAAACCCTT	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											121	118	119					6																	73108726		1831	4085	5916	73165447	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4790G>A	6.37:g.73108726G>A	ENSP00000428417:p.Arg1597Gln		73165447	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.708477|5.708477	0.96821|0.96821	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.69806	.|-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.37|5.37	5.37|5.37	0.77165|0.77165	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.52532	.|D	.|0.000064	T|T	0.82079|0.82079	0.4959|0.4959	M|M	0.84683|0.84683	2.71|2.71	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.992;0.844;0.997;0.998;0.994;1.0;0.991;1.0;0.994;0.991;0.993;0.999;0.997	.|P;P;D;P;P;D;P;D;P;P;D;D;D	.|0.73708	.|0.869;0.718;0.981;0.851;0.824;0.972;0.846;0.972;0.824;0.893;0.926;0.978;0.949	D|D	0.84239|0.84239	0.0471|0.0471	5|10	.|0.72032	.|D	.|0.01	-20.9392|-20.9392	19.4549|19.4549	0.94884|0.94884	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|221;403;731;722;1446;917;1196;500;1276;1380;673;1386;1597	.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	K|Q	515|1386;1446;1386;1380;1276;1196;1446;1380;1276;1247;1196;1597;917;722;665;731;645;403;124	.|ENSP00000430101:R1386Q;ENSP00000275037:R1380Q;ENSP00000264839:R1446Q;ENSP00000429959:R1380Q;ENSP00000430408:R1276Q;ENSP00000430502:R1247Q;ENSP00000430932:R1196Q;ENSP00000428417:R1597Q;ENSP00000385649:R917Q;ENSP00000428328:R722Q;ENSP00000411235:R665Q;ENSP00000428367:R731Q;ENSP00000359448:R645Q;ENSP00000439730:R403Q;ENSP00000402273:R124Q	.|ENSP00000264839:R1446Q	E|R	+|+	1|2	0|0	RIMS1|RIMS1	73165447|73165447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.733000|9.733000	0.98818|0.98818	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.353	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			A	73108726	G	A	73108726	3	1	173	1	0	0	0	0	1	0	0	0	13370	1058	37	1	5083	1	RIMS1	6	73108726	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08	20778880	73108726	98006341	13	9841											
GRIK2	2898	broad.mit.edu	37	6	102483297	102483297	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr6:102483297G>A	ENST00000421544.1	+	14	2657	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	GRIK2_ENST00000369134.4_Missense_Mutation_p.E674K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E723K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E647K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E723K|GRIK2_ENST00000369138.1_Missense_Mutation_p.E723K	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	723					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E723K(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAGTAATGAAGAAGGAATCCA	0.413																																																2	Substitution - Missense(2)	ovary(2)	6											145	144	144					6																	102483297		2203	4299	6502	102589990	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2167G>A	6.37:g.102483297G>A	ENSP00000397026:p.Glu723Lys		102589990	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555595	0.96514	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.093842	0.64402	D	0.000001	T	0.23688	0.0573	L	0.47190	1.495	0.80722	D	1	D;D;D	0.55172	0.963;0.97;0.963	P;D;P	0.65443	0.893;0.935;0.893	T	0.00664	-1.1620	10	0.59425	D	0.04	.	19.301	0.94144	0.0:0.0:1.0:0.0	.	723;723;723	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	K	723;723;723;647;723;674;498	ENSP00000397026:E723K;ENSP00000405596:E723K;ENSP00000358134:E723K;ENSP00000358133:E647K;ENSP00000313276:E723K;ENSP00000358130:E674K	ENSP00000313276:E723K	E	+	1	0	GRIK2	102589990	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.555000	0.86185	0.655000	0.94253	GAA		0.413	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			A	102483297	G	A	102483297	3	1	173	1	0	0	0	0	1	0	0	0	6774	943	33	2	2221	2	GRIK2	6	102483297	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08	29374571	102483297	68631770	14	9842											
HACE1	57531	broad.mit.edu	37	6	105280966	105280966	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr6:105280966G>A	ENST00000262903.4	-	6	761	c.485C>T	c.(484-486)gCc>gTc	p.A162V	HACE1_ENST00000369125.2_Missense_Mutation_p.A162V|RP11-809N15.2_ENST00000422930.2_RNA	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	162					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.A162V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGCCCCATGGCATCCTCAAC	0.468																																																1	Substitution - Missense(1)	ovary(1)	6											177	141	153					6																	105280966		2203	4300	6503	105387659	SO:0001583	missense	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.485C>T	6.37:g.105280966G>A	ENSP00000262903:p.Ala162Val		105387659	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777884	0.90195	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000524020	T;T;T	0.71222	-0.55;-0.55;1.57	4.96	4.96	0.65561	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	L	0.35793	1.09	0.80722	D	1	P;D	0.59767	0.856;0.986	B;P	0.58970	0.381;0.849	T	0.71699	-0.4514	10	0.48119	T	0.1	.	18.207	0.89858	0.0:0.0:1.0:0.0	.	162;162	E9PGP0;Q8IYU2	.;HACE1_HUMAN	V	162;162;128	ENSP00000262903:A162V;ENSP00000358121:A162V;ENSP00000427901:A128V	ENSP00000262903:A162V	A	-	2	0	HACE1	105387659	1.000000	0.71417	0.946000	0.38457	0.981000	0.71138	9.392000	0.97252	2.296000	0.77279	0.557000	0.71058	GCC		0.468	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		A	105280966	G	A	105280966	3	1	173	1	0	0	0	0	1	0	0	0	6940	1203	42	2	2320	2	HACE1	6	105280966	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08	2797669	105280966	65834101	15	9843											
SBDS	51119	broad.mit.edu	37	7	66456236	66456236	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr7:66456236T>A	ENST00000246868.2	-	4	695	c.512A>T	c.(511-513)cAc>cTc	p.H171L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	171					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)	p.H171L(1)		cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						AAGCCTCATGTGAGCACGTTC	0.383			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																													yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	1	Substitution - Missense(1)	ovary(1)	7											127	108	114					7																	66456236		2203	4300	6503	66093671	SO:0001583	missense	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.512A>T	7.37:g.66456236T>A	ENSP00000246868:p.His171Leu		66093671	A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	37	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073284	0.55646	.	.	ENSG00000126524	ENST00000246868	D	0.95788	-3.81	5.04	5.04	0.67666	Ribosome maturation protein SBDS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	L	0.56769	1.78	0.80722	D	1	B	0.18310	0.027	B	0.27380	0.079	D	0.91656	0.5338	10	0.49607	T	0.09	-24.4632	12.7832	0.57489	0.0:0.0:0.0:1.0	.	171	Q9Y3A5	SBDS_HUMAN	L	171	ENSP00000246868:H171L	ENSP00000246868:H171L	H	-	2	0	SBDS	66093671	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	7.163000	0.77524	2.134000	0.65973	0.454000	0.30748	CAC		0.383	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		A	66456236	T	A	66456236	3	1	173	1	0	0	0	0	1	0	0	0	13860	1696	59	5	248	5	SBDS	7	66456236	Missense_Mutation	SNP	T	TCGA-23-1027-01A-02W-0486-08		66456236	92682427	16	9844											
ATP5J2	9551	broad.mit.edu	37	7	99057761	99057761	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr7:99057761C>G	ENST00000292475.3	-	2	276	c.87G>C	c.(85-87)tgG>tgC	p.W29C	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.W23C|ATP5J2_ENST00000488775.1_Missense_Mutation_p.W23C|ATP5J2_ENST00000544611.1_Missense_Mutation_p.W23C|ATP5J2_ENST00000359832.4_Missense_Mutation_p.W29C|ATP5J2_ENST00000394186.3_Missense_Mutation_p.W23C|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Missense_Mutation_p.W23C|ATP5J2_ENST00000449683.1_Missense_Mutation_p.W33C|ATP5J2_ENST00000466753.1_Intron	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	29					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)	p.W29C(1)		large_intestine(1)|ovary(1)	2	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCATCAAGATCCAGCTTGGCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											173	189	184					7																	99057761		2203	4300	6503	98895697	SO:0001583	missense	9551			AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	848	protein-coding gene	gene with protein product	"F1Fo-ATPase synthase f subunit", "ATP synthase f chain, mitochondrial", "F1Fo-ATP synthase complex Fo membrane domain f subunit"		"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.87G>C	7.37:g.99057761C>G	ENSP00000292475:p.Trp29Cys		98895697	C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Missense_Mutation	SNP	ENST00000292475.3	37	CCDS5665.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464416	0.84425	.	.	ENSG00000106246;ENSG00000248919;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468	ENST00000555673;ENST00000413834;ENST00000449683;ENST00000359832;ENST00000292475;ENST00000544611;ENST00000488775;ENST00000394186	D;D;T;T	0.93366	-3.21;-3.21;2.58;2.58	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	M	0.62088	1.915	0.58432	D	0.999999	D;D;B;B;B	0.89917	1.0;1.0;0.109;0.345;0.189	D;D;B;B;B	0.91635	0.999;0.999;0.166;0.429;0.182	D	0.96457	0.9338	10	0.66056	D	0.02	.	18.0577	0.89368	0.0:1.0:0.0:0.0	.	23;29;23;29;23	G3V325;F8W7V3;C9J8H9;P56134;P56134-2	.;.;.;ATPK_HUMAN;.	C	23;23;33;29;29;23;23;23	ENSP00000450995:W23C;ENSP00000400168:W23C;ENSP00000407540:W33C;ENSP00000377740:W23C	ENSP00000292475:W29C	W	-	3	0	ATP5J2;ATP5J2-PTCD1;PTCD1	98895697	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	6.847000	0.75404	2.376000	0.81061	0.462000	0.41574	TGG		0.468	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336263.1	NM_004889		G	99057761	C	G	99057761	3	3	173	1	0	0	0	0	1	0	0	0	1159	856	30	3	238	3	ATP5J2	7	99057761	Missense_Mutation	SNP	C	TCGA-23-1027-01A-02W-0486-08	32601525	99057761	60080902	17	9845											
GPR37	2861	broad.mit.edu	37	7	124404008	124404008	+	Splice_Site	SNP	C	C	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr7:124404008C>G	ENST00000303921.2	-	1	1673	c.1023G>C	c.(1021-1023)gaG>gaC	p.E341D		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	341					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.E341D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGGCATTACCTCTATATAGG	0.502																																																1	Substitution - Missense(1)	ovary(1)	7											143	158	153					7																	124404008		2203	4300	6503	124191244	SO:0001630	splice_region_variant	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1023+1G>C	7.37:g.124404008C>G			124191244	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814407	0.90790	.	.	ENSG00000170775	ENST00000303921	T	0.36157	1.27	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.50718	0.1632	L	0.38838	1.175	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.35649	-0.9780	9	.	.	.	-35.7224	18.0126	0.89229	0.0:1.0:0.0:0.0	.	341	O15354	GPR37_HUMAN	D	341	ENSP00000306449:E341D	.	E	-	3	2	GPR37	124191244	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.645000	0.83430	2.727000	0.93392	0.643000	0.83706	GAG		0.502	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	Missense_Mutation	G	124404008	C	G	124404008	5	3	173	1	0	0	0	0	0	0	1	0	6691	695	24	3	826	3	GPR37	7	124404008	Splice_Site	SNP	C	TCGA-23-1027-01A-02W-0486-08	25346247	124404008	34734655	18	9846											
KIAA1147	57189	broad.mit.edu	37	7	141363999	141363999	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr7:141363999T>C	ENST00000536163.1	-	8	1144	c.1145A>G	c.(1144-1146)aAc>aGc	p.N382S	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Missense_Mutation_p.N278S	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	382								p.N382S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TTCACAAGGGTTGTAGTCTTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	7											65	72	70					7																	141363999		2063	4194	6257	141010468	SO:0001583	missense	57189			AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.1145A>G	7.37:g.141363999T>C	ENSP00000445768:p.Asn382Ser		141010468	Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	T	8.635	0.894500	0.17613	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	6.07	-9.17	0.00691	.	0.366403	0.34002	N	0.004351	T	0.19406	0.0466	N	0.22421	0.69	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.09574	-1.0668	9	0.21540	T	0.41	-10.3646	11.4712	0.50270	0.0:0.4909:0.2718:0.2373	.	382	A4D1U4	LCHN_HUMAN	S	382;278	.	ENSP00000297761:N382S	N	-	2	0	KIAA1147	141010468	0.399000	0.25287	0.469000	0.27204	0.982000	0.71751	-0.378000	0.07446	-1.559000	0.01688	-0.256000	0.11100	AAC		0.567	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			C	141363999	T	C	141363999	3	2	173	1	0	0	0	0	1	0	0	0	8210	1725	60	4	230	4	KIAA1147	7	141363999	Missense_Mutation	SNP	T	TCGA-23-1027-01A-02W-0486-08	16959991	141363999	17774664	19	9847											
GFRA1	2674	broad.mit.edu	37	10	117971142	117971142	+	Splice_Site	SNP	C	C	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr10:117971142C>A	ENST00000355422.6	-	5	984		c.e5+1		GFRA1_ENST00000439649.3_Intron|GFRA1_ENST00000544592.1_Intron|GFRA1_ENST00000369236.1_Intron	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1						axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AGTGAACTTACCTTGCTGAAA	0.433																																					Ovarian(128;329 1725 45498 46808 50759)											0			10											87	87	87					10																	117971142		1011	2118	3129	117961132	SO:0001630	splice_region_variant	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.433+1G>T	10.37:g.117971142C>A			117961132	A8KA21|O15507|O43912	Splice_Site	SNP	ENST00000355422.6	37	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183649	0.78677	.	.	ENSG00000151892	ENST00000439649	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1152	0.72394	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GFRA1	117961132	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.454000	0.52986	2.630000	0.89119	0.655000	0.94253	.		0.433	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793	Intron	A	117971142	C	A	117971142	5	1	173	1	0	0	0	0	0	0	1	0	6347	521	18	3	991	3	GFRA1	10	117971142	Splice_Site	SNP	C	TCGA-23-1027-01A-02W-0486-08		117971142	17563605	20	9848											
C10orf137	26098	broad.mit.edu	37	10	127414256	127414256	+	Missense_Mutation	SNP	A	A	G	rs141672047	byFrequency	TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr10:127414256A>G	ENST00000356792.4	+	6	873	c.641A>G	c.(640-642)aAt>aGt	p.N214S	C10orf137_ENST00000337623.3_Missense_Mutation_p.N214S	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.N214S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCAGTATCAATGGTGATGGA	0.438													A|||	2	0.000399361	0	0.0014	5008	,	,		17029	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	10						A	SER/ASN,SER/ASN	0,4406		0,0,2203	60	56	57		641,641	4.8	1	10	dbSNP_134	57	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	C10orf137	NM_001202438.1,NM_015608.2	46,46	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	probably-damaging,probably-damaging	214/1239,214/1205	127414256	4,13002	2203	4300	6503	127404246	SO:0001583	missense	26098																														ENST00000356792.4:c.641A>G	10.37:g.127414256A>G	ENSP00000349244:p.Asn214Ser		127404246	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	19.96	3.922572	0.73213	0.0	4.65E-4	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	N	0.14661	0.345	0.58432	D	0.999996	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.76071	0.987;0.98;0.987	T	0.44559	-0.9320	9	0.10377	T	0.69	.	14.9034	0.70699	1.0:0.0:0.0:0.0	.	214;214;214	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	S	214	.	ENSP00000336727:N214S	N	+	2	0	C10orf137	127404246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.641000	0.74324	2.177000	0.69029	0.528000	0.53228	AAT		0.438	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			G	127414256	A	G	127414256	3	3	173	1	0	0	0	0	1	0	0	0	1594	101	4	4	663	4	C10orf137	10	127414256	Missense_Mutation	SNP	A	TCGA-23-1027-01A-02W-0486-08	9443114	127414256	8120491	21	9849											
C10orf137	26098	broad.mit.edu	37	10	127436444	127436444	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr10:127436444G>T	ENST00000356792.4	+	21	3218	c.2986G>T	c.(2986-2988)Gtc>Ttc	p.V996F	RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.V962F	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		996					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V962F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAGAAAGAAGTCAGTGAGGC	0.413																																																1	Substitution - Missense(1)	ovary(1)	10											120	114	116					10																	127436444		2203	4300	6503	127426434	SO:0001583	missense	26098																														ENST00000356792.4:c.2986G>T	10.37:g.127436444G>T	ENSP00000349244:p.Val996Phe		127426434	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931274	0.92389	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.70595	2.14	0.80722	D	1	P;D;D	0.89917	0.937;0.994;1.0	P;D;D	0.85130	0.679;0.974;0.997	T	0.81446	-0.0929	9	0.87932	D	0	.	19.385	0.94553	0.0:0.0:1.0:0.0	.	996;343;962	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	F	996;962	.	ENSP00000336727:V962F	V	+	1	0	C10orf137	127426434	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.360000	0.97119	2.561000	0.86390	0.650000	0.86243	GTC		0.413	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			T	127436444	G	T	127436444	3	4	173	1	0	0	0	0	1	0	0	0	1594	1029	36	3	2962	3	C10orf137	10	127436444	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08	22188	127436444	8098303	22	9850											
PTPN5	84867	broad.mit.edu	37	11	18754173	18754173	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr11:18754173G>A	ENST00000358540.2	-	12	1725	c.1295C>T	c.(1294-1296)aCg>aTg	p.T432M	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Missense_Mutation_p.T400M|PTPN5_ENST00000396171.4_Missense_Mutation_p.T432M|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396167.2_Missense_Mutation_p.T400M|PTPN5_ENST00000396168.1_Missense_Mutation_p.T408M|PTPN5_ENST00000477854.1_Missense_Mutation_p.T236M	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	432	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)	p.T432M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GTAATCCTCCGTGTGAATGAC	0.597											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											183	167	172					11																	18754173		2199	4293	6492	18710749	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1295C>T	11.37:g.18754173G>A	ENSP00000351342:p.Thr432Met	728	18710749	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780819	0.70222	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.29	5.29	0.74685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.148856	0.45361	D	0.000375	T	0.78868	0.4351	N	0.11341	0.13	0.36430	D	0.864877	D;D	0.76494	0.993;0.999	P;P	0.53954	0.709;0.738	T	0.83295	-0.0031	10	0.42905	T	0.14	.	17.2991	0.87177	0.0:0.0:1.0:0.0	.	432;400	P54829;B3KXG7	PTN5_HUMAN;.	M	236;432;400;432;400;408	ENSP00000435056:T236M;ENSP00000351342:T432M;ENSP00000379473:T400M;ENSP00000379474:T432M;ENSP00000379470:T400M;ENSP00000379471:T408M	ENSP00000351342:T432M	T	-	2	0	PTPN5	18710749	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	5.970000	0.70431	2.767000	0.95098	0.655000	0.94253	ACG		0.597	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		A	18754173	G	A	18754173	3	1	173	1	0	0	0	0	1	0	0	0	12794	1145	40	1	418	1	PTPN5	11	18754173	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08		18754173	116252343	23	9851											
FOLH1B	219595	broad.mit.edu	37	11	89409338	89409338	+	RNA	SNP	T	T	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr11:89409338T>A	ENST00000532352.1	+	0	1261							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTATAGAAGGTGAATATCGTT	0.343																																																1	Unknown(1)	ovary(1)	11											95	95	95					11																	89409338		2201	4296	6497	89048986			219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89409338T>A			89048986		Splice_Site	SNP	ENST00000532352.1	37																																																																																					0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		A	89409338	T	A	89409338	1	1	173	0	1	0	0	0	0	0	0	0	5980	1710	59	5		5	FOLH1B	11	89409338	RNA	SNP	T	TCGA-23-1027-01A-02W-0486-08	70655165	89409338	45597178	24	9852											
CASP1	834	broad.mit.edu	37	11	104901070	104901070	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr11:104901070T>A	ENST00000533400.1	-	5	649	c.614A>T	c.(613-615)aAt>aTt	p.N205I	CASP1_ENST00000598974.1_Missense_Mutation_p.N205I|CASP1_ENST00000593315.1_Missense_Mutation_p.N184I|CASP1_ENST00000594519.1_Missense_Mutation_p.N112I|CASP1_ENST00000446369.1_Missense_Mutation_p.N112I|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Missense_Mutation_p.N112I|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.N205I|CASP1_ENST00000527979.1_Missense_Mutation_p.N168I|CASP1_ENST00000526568.1_Missense_Mutation_p.N112I|CASP1_ENST00000528974.1_Missense_Mutation_p.N166I|CASP1_ENST00000525825.1_Missense_Mutation_p.N184I|CASP1_ENST00000393136.4_Missense_Mutation_p.N184I|CASP1_ENST00000353247.5_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	205					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.N205I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	AGCAGTGAGATTTTTTTTCAC	0.378																																					NSCLC(41;1246 1743 4934)											1	Substitution - Missense(1)	ovary(1)	11											111	109	110					11																	104901070		2202	4299	6501	104406280	SO:0001583	missense	834			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.614A>T	11.37:g.104901070T>A	ENSP00000433138:p.Asn205Ile		104406280	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.011256	0.35511	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000446369;ENST00000393136;ENST00000525825;ENST00000534497;ENST00000528974	T;T;T;T;T;T;T;T;T;T	0.53857	3.71;3.71;3.71;3.71;3.71;0.6;3.71;3.71;0.6;3.71	4.37	3.23	0.37069	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.150098	0.56097	D	0.000026	T	0.74951	0.3784	M	0.92169	3.28	0.40834	D	0.98361	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.937;0.996;0.993;0.998;0.993;0.992	T	0.77384	-0.2608	10	0.87932	D	0	.	8.0487	0.30564	0.0:0.0992:0.0:0.9008	.	166;112;205;184;205;168;112	B4DVD8;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	I	54;112;168;205;205;112;184;184;112;166	ENSP00000435536:N54I;ENSP00000434250:N112I;ENSP00000432340:N168I;ENSP00000433138:N205I;ENSP00000410076:N205I;ENSP00000403260:N112I;ENSP00000376844:N184I;ENSP00000434779:N184I;ENSP00000436875:N112I;ENSP00000434259:N166I	ENSP00000376844:N184I	N	-	2	0	CASP1	104406280	0.997000	0.39634	0.952000	0.39060	0.076000	0.17211	4.170000	0.58229	0.818000	0.34468	0.455000	0.32223	AAT		0.378	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		A	104901070	T	A	104901070	3	1	173	1	0	0	0	0	1	0	0	0	2668	1493	52	5	620	5	CASP1	11	104901070	Missense_Mutation	SNP	T	TCGA-23-1027-01A-02W-0486-08	15491732	104901070	30105446	25	9853											
KRT72	140807	broad.mit.edu	37	12	52981578	52981578	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr12:52981578T>G	ENST00000537672.2	-	7	1157	c.1147A>C	c.(1147-1149)Aaa>Caa	p.K383Q	KRT72_ENST00000293745.2_Missense_Mutation_p.K383Q|KRT72_ENST00000354310.4_Missense_Mutation_p.K341Q|KRT72_ENST00000398066.3_Missense_Mutation_p.K195Q	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	383	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.K383Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CGGGCATCTTTCAGGGCGCAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	12											58	55	56					12																	52981578		2203	4300	6503	51267845	SO:0001583	missense	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1147A>C	12.37:g.52981578T>G	ENSP00000441160:p.Lys383Gln		51267845	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.028870	0.54790	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;T;D	0.88586	-2.4;-2.4;2.54;-2.4	4.92	4.92	0.64577	Filament (1);	0.000000	0.53938	D	0.000044	D	0.95290	0.8472	M	0.89904	3.07	0.36628	D	0.87611	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98243	1.0489	10	0.87932	D	0	.	15.2878	0.73843	0.0:0.0:0.0:1.0	.	341;383	B4DEI8;Q14CN4	.;K2C72_HUMAN	Q	383;383;341;195	ENSP00000441160:K383Q;ENSP00000293745:K383Q;ENSP00000346269:K341Q;ENSP00000446151:K195Q	ENSP00000293745:K383Q	K	-	1	0	KRT72	51267845	0.972000	0.33761	1.000000	0.80357	0.206000	0.24218	3.408000	0.52651	2.143000	0.66587	0.528000	0.53228	AAA		0.642	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		G	52981578	T	G	52981578	3	3	173	1	0	0	0	0	1	0	0	0	8485	1792	62	5	400	5	KRT72	12	52981578	Missense_Mutation	SNP	T	TCGA-23-1027-01A-02W-0486-08		52981578	80870317	26	9854											
ERCC5	2073	broad.mit.edu	37	13	103504612	103504612	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr13:103504612G>T	ENST00000355739.4	+	2	1656	c.233G>T	c.(232-234)gGg>gTg	p.G78V	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.W503C|ERCC5_ENST00000535557.1_Missense_Mutation_p.G78V	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	78	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.G78V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTGTTTGATGGGGATGCTCCA	0.348			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	1	Substitution - Missense(1)	ovary(1)	13											125	124	124					13																	103504612		2203	4300	6503	102302613	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.233G>T	13.37:g.103504612G>T	ENSP00000347978:p.Gly78Val		102302613	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233701	0.79688	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.73152	-0.72;-0.72	5.27	5.27	0.74061	XPG conserved site (1);XPG N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91199	0.7227	H	0.99042	4.41	0.80722	D	1	P;B;D	0.89917	0.462;0.345;1.0	P;B;D	0.97110	0.539;0.197;1.0	D	0.94713	0.7894	10	0.72032	D	0.01	-25.6783	18.879	0.92350	0.0:0.0:1.0:0.0	.	78;78;503	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	503;78;78	ENSP00000347978:G78V;ENSP00000442117:G78V	ENSP00000347978:G78V	G	+	2	0	ERCC5	102302613	1.000000	0.71417	0.998000	0.56505	0.754000	0.42855	9.396000	0.97270	2.454000	0.82982	0.579000	0.79373	GGG		0.348	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			T	103504612	G	T	103504612	3	4	173	1	0	0	0	0	1	0	0	0	5216	1232	43	3	239	3	ERCC5	13	103504612	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08		103504612	11665266	27	9855											
SERPINA10	51156	broad.mit.edu	37	14	94756388	94756388	+	Missense_Mutation	SNP	T	T	G	rs374100149		TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr14:94756388T>G	ENST00000393096.1	-	2	1008	c.543A>C	c.(541-543)ttA>ttC	p.L181F	SERPINA10_ENST00000554173.1_Missense_Mutation_p.L181F|SERPINA10_ENST00000554723.1_Missense_Mutation_p.L221F|SERPINA10_ENST00000261994.4_Missense_Mutation_p.L181F	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	181					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L181F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACCTCTTGGATAAATTGAAGA	0.453																																																1	Substitution - Missense(1)	ovary(1)	14											76	79	78					14																	94756388		2203	4300	6503	93826141	SO:0001583	missense	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.543A>C	14.37:g.94756388T>G	ENSP00000376809:p.Leu181Phe		93826141	A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	T	4.481	0.089247	0.08632	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.87	-9.73	0.00512	Serpin domain (3);	0.131690	0.29668	N	0.011514	T	0.71239	0.3316	L	0.55990	1.75	0.09310	N	0.999998	B	0.28258	0.205	B	0.22880	0.042	T	0.54695	-0.8255	10	0.62326	D	0.03	.	4.9267	0.13896	0.0899:0.4175:0.2868:0.2058	.	181	Q9UK55	ZPI_HUMAN	F	221;181;181;181	ENSP00000450896:L221F;ENSP00000376809:L181F;ENSP00000261994:L181F;ENSP00000450971:L181F	ENSP00000261994:L181F	L	-	3	2	SERPINA10	93826141	0.000000	0.05858	0.000000	0.03702	0.317000	0.28152	-1.529000	0.02223	-1.870000	0.01139	0.260000	0.18958	TTA		0.453	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		G	94756388	T	G	94756388	3	3	173	1	0	0	0	0	1	0	0	0	14090	1403	49	5	807	5	SERPINA10	14	94756388	Missense_Mutation	SNP	T	TCGA-23-1027-01A-02W-0486-08		94756388	12593152	28	9856											
CES7	221223	broad.mit.edu	37	16	55907868	55907868	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr16:55907868A>G	ENST00000290567.9	-	2	276	c.155T>C	c.(154-156)gTg>gCg	p.V52A	CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000521992.1_Missense_Mutation_p.V81A|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Missense_Mutation_p.V52A|CES5A_ENST00000520435.1_Missense_Mutation_p.V52A	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	52						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.V52A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTTCACAGGCACAGGGCTTCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											84	71	76					16																	55907868		2198	4300	6498	54465369	SO:0001583	missense	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.155T>C	16.37:g.55907868A>G	ENSP00000290567:p.Val52Ala		54465369	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351819	0.24512	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000290567;ENST00000520435	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.66	-10.1	0.00402	Carboxylesterase, type B (1);	0.885835	0.09708	N	0.766121	T	0.27933	0.0688	N	0.12920	0.275	0.09310	N	1	B;B	0.26081	0.017;0.141	B;B	0.23419	0.023;0.046	T	0.24693	-1.0153	10	0.08381	T	0.77	.	3.6099	0.08057	0.1205:0.1596:0.1377:0.5821	.	52;52	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	A	81;52;52;52	ENSP00000428864:V81A;ENSP00000324271:V52A;ENSP00000290567:V52A;ENSP00000428887:V52A	ENSP00000290567:V52A	V	-	2	0	CES5A	54465369	0.000000	0.05858	0.000000	0.03702	0.677000	0.39632	-0.212000	0.09319	-1.327000	0.02264	-0.320000	0.08662	GTG		0.612	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		G	55907868	A	G	55907868	3	3	173	1	0	0	0	0	1	0	0	0	3272	159	6	4	1620	4	CES7	16	55907868	Missense_Mutation	SNP	A	TCGA-23-1027-01A-02W-0486-08		55907868	34446885	29	9857											
CHRNB1	1140	broad.mit.edu	37	17	7358630	7358630	+	Silent	SNP	C	C	T			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr17:7358630C>T	ENST00000306071.2	+	9	1139	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	CHRNB1_ENST00000575379.1_5'Flank|CHRNB1_ENST00000536404.2_Silent_p.L286L|CHRNB1_ENST00000576360.1_Silent_p.L237L	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	358					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.L358L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TCCGCTGTACCTGCGTCTAAA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	17											106	107	107					17																	7358630		2203	4300	6503	7299354	SO:0001819	synonymous_variant	1140			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1072C>T	17.37:g.7358630C>T			7299354	B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	CCDS11106.1																																																																																				0.532	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			T	7358630	C	T	7358630	2	4	173	1	0	0	0	0	0	0	0	1	3390	680	24	2		2	CHRNB1	17	7358630	Silent	SNP	C	TCGA-23-1027-01A-02W-0486-08		7358630	73836580	30	9858											
NF1	4763	broad.mit.edu	37	17	29654836	29654836	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr17:29654836G>C	ENST00000358273.4	+	38	5971	c.5588G>C	c.(5587-5589)gGc>gCc	p.G1863A	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.G1842A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1863					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.G1863A(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTAATTTAGGCAGTTCTGAC	0.413			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17											80	81	80					17																	29654836		2203	4300	6503	26678962	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5588G>C	17.37:g.29654836G>C	ENSP00000351015:p.Gly1863Ala		26678962	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724556	0.89298	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;T;D	0.96967	-4.19;-0.11;-4.19	5.8	5.8	0.92144	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	L	0.54908	1.71	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.983	D;D;D	0.80764	0.989;0.994;0.938	D	0.97018	0.9741	10	0.41790	T	0.15	.	19.049	0.93034	0.0:0.0:1.0:0.0	.	892;1842;1863	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	A	1863;1842;1508	ENSP00000351015:G1863A;ENSP00000348498:G1842A;ENSP00000389907:G1508A	ENSP00000348498:G1842A	G	+	2	0	NF1	26678962	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.733000	0.93635	0.650000	0.86243	GGC		0.413	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29654836	G	C	29654836	3	2	173	1	0	0	0	0	1	0	0	0	10356	1203	42	3	5799	3	NF1	17	29654836	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08	22296206	29654836	51540374	31	9859											
WNK4	65266	broad.mit.edu	37	17	40947736	40947736	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr17:40947736C>G	ENST00000246914.5	+	16	3137	c.3116C>G	c.(3115-3117)tCt>tGt	p.S1039C		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1039					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.S1027C(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCACTCTCTCTGGTTCTCCA	0.572																																					Esophageal Squamous(6;201 374 4964 23855 42828)											1	Substitution - Missense(1)	ovary(1)	17											82	78	79					17																	40947736		2203	4300	6503	38201262	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3116C>G	17.37:g.40947736C>G	ENSP00000246914:p.Ser1039Cys		38201262	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	3.793	-0.043252	0.07452	.	.	ENSG00000126562	ENST00000246914	T	0.72615	-0.67	4.92	3.94	0.45596	.	0.145674	0.32258	N	0.006342	T	0.61837	0.2379	L	0.40543	1.245	0.19775	N	0.99996	B;B	0.24368	0.102;0.062	B;B	0.23852	0.049;0.01	T	0.59461	-0.7450	10	0.66056	D	0.02	-18.1643	12.2678	0.54689	0.0:0.6448:0.3552:0.0	.	1039;1039	Q96J92-3;Q96J92	.;WNK4_HUMAN	C	1039	ENSP00000246914:S1039C	ENSP00000246914:S1039C	S	+	2	0	WNK4	38201262	0.000000	0.05858	0.039000	0.18376	0.177000	0.22998	0.479000	0.22228	1.425000	0.47237	0.491000	0.48974	TCT		0.572	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			G	40947736	C	G	40947736	3	3	173	1	0	0	0	0	1	0	0	0	17380	913	32	3	3178	3	WNK4	17	40947736	Missense_Mutation	SNP	C	TCGA-23-1027-01A-02W-0486-08	11292900	40947736	40247474	32	9860											
LPIN2	9663	broad.mit.edu	37	18	2951130	2951130	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr18:2951130C>G	ENST00000261596.4	-	4	751	c.513G>C	c.(511-513)caG>caC	p.Q171H	RP11-737O24.2_ENST00000581488.1_RNA|RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	171					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.Q171H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAGATGCGGCCTGCTCTTCCT	0.493																																																1	Substitution - Missense(1)	ovary(1)	18											185	151	163					18																	2951130		2203	4300	6503	2941130	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.513G>C	18.37:g.2951130C>G	ENSP00000261596:p.Gln171His		2941130	A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.907037	0.33628	.	.	ENSG00000101577	ENST00000261596;ENST00000455369	T	0.80738	-1.41	5.92	-0.266	0.12942	.	0.472448	0.24282	N	0.039897	T	0.68430	0.3000	L	0.53249	1.67	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.55724	-0.8096	10	0.44086	T	0.13	-11.0924	2.094	0.03663	0.1051:0.3003:0.2062:0.3884	.	171	Q92539	LPIN2_HUMAN	H	171	ENSP00000261596:Q171H	ENSP00000261596:Q171H	Q	-	3	2	LPIN2	2941130	0.000000	0.05858	0.012000	0.15200	0.874000	0.50279	-1.271000	0.02828	-0.111000	0.12001	0.655000	0.94253	CAG		0.493	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		G	2951130	C	G	2951130	3	3	173	1	0	0	0	0	1	0	0	0	8919	680	24	3	2245	3	LPIN2	18	2951130	Missense_Mutation	SNP	C	TCGA-23-1027-01A-02W-0486-08		2951130	75126118	33	9861											
PRX	57716	broad.mit.edu	37	19	40901791	40901791	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr19:40901791G>A	ENST00000324001.7	-	7	2738	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	823					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A823V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCAGCACCCGCCTCGCCTGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											92	82	85					19																	40901791		2202	4300	6502	45593631	SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2468C>T	19.37:g.40901791G>A	ENSP00000326018:p.Ala823Val		45593631	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303864	0.10678	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01192	5.2	5.15	1.49	0.22878	.	0.297914	0.24107	N	0.041497	T	0.00784	0.0026	N	0.17082	0.46	0.09310	N	0.999999	B	0.23316	0.083	B	0.23018	0.043	T	0.49969	-0.8882	10	0.20519	T	0.43	-13.0857	5.0452	0.14480	0.2711:0.1659:0.5629:0.0	.	823	Q9BXM0	PRAX_HUMAN	V	823	ENSP00000326018:A823V	ENSP00000326018:A823V	A	-	2	0	PRX	45593631	0.061000	0.20836	0.784000	0.31847	0.310000	0.27922	0.457000	0.21875	1.165000	0.42670	0.655000	0.94253	GCG		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		A	40901791	G	A	40901791	3	1	173	1	0	0	0	0	1	0	0	0	12645	1087	38	1	1921	1	PRX	19	40901791	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08		40901791	18227192	34	9862											
SIGLEC12	89858	broad.mit.edu	37	19	52003577	52003577	+	Intron	SNP	C	C	A			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr19:52003577C>A	ENST00000291707.3	-	2	483				SIGLEC12_ENST00000598614.1_Missense_Mutation_p.W17C	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAGGGTCAGCCCAGCCCCCAC	0.607																																																0			19											43	39	40					19																	52003577		2203	4300	6503	56695389	SO:0001627	intron_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.428-23G>T	19.37:g.52003577C>A			56695389	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1																																																																																				0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		A	52003577	C	A	52003577	1	1	173	0	1	0	0	0	0	0	0	0	14311	624	22	3		3	SIGLEC12	19	52003577	Intron	SNP	C	TCGA-23-1027-01A-02W-0486-08	11101786	52003577	7125406	35	9863											
NLRP11	204801	broad.mit.edu	37	19	56303709	56303709	+	Missense_Mutation	SNP	G	G	A	rs374529395		TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr19:56303709G>A	ENST00000589093.1	-	7	2564	c.2471C>T	c.(2470-2472)aCg>aTg	p.T824M	NLRP11_ENST00000592953.1_Missense_Mutation_p.T725M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T770M|NLRP11_ENST00000443188.1_Missense_Mutation_p.T824M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T770M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	824							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.T824M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAGGGAAACGTCACATGCAA	0.488																																																1	Substitution - Missense(1)	ovary(1)	19						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	200	176	184		2471	-4.4	0	19		184	0,8600		0,0,4300	no	missense	NLRP11	NM_145007.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	824/1034	56303709	1,13005	2203	4300	6503	60995521	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2471C>T	19.37:g.56303709G>A	ENSP00000466285:p.Thr824Met		60995521	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	4.126	0.021719	0.08006	2.27E-4	0.0	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.53640	0.61;0.61	2.18	-4.36	0.03645	.	.	.	.	.	T	0.31327	0.0793	L	0.43152	1.355	0.09310	N	1	P;P	0.42993	0.695;0.797	B;B	0.37601	0.129;0.254	T	0.13926	-1.0491	9	0.72032	D	0.01	.	4.3745	0.11263	0.4516:0.3414:0.207:0.0	.	824;770	P59045;P59045-2	NAL11_HUMAN;.	M	824;770	ENSP00000409898:T824M;ENSP00000353251:T770M	ENSP00000353251:T770M	T	-	2	0	NLRP11	60995521	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.565000	0.05929	-1.536000	0.01738	-0.909000	0.02823	ACG		0.488	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		A	56303709	G	A	56303709	3	1	173	1	0	0	0	0	1	0	0	0	10473	1145	40	1	646	1	NLRP11	19	56303709	Missense_Mutation	SNP	G	TCGA-23-1027-01A-02W-0486-08	4300132	56303709	2825274	36	9864											
SAPS2	9701	broad.mit.edu	37	22	50857872	50857872	+	Silent	SNP	C	C	T			TCGA-23-1027-01A-02W-0486-08	TCGA-23-1027-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	56c555bc-a836-48a7-9cb2-912010561ae1	9f3c5e54-582d-4243-a814-140f3e685aad	g.chr22:50857872C>T	ENST00000216061.5	+	9	1196	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	PPP6R2_ENST00000395741.3_Silent_p.L277L|PPP6R2_ENST00000359139.3_Silent_p.L276L|PPP6R2_ENST00000395744.3_Silent_p.L276L			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	276						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.L276L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACTCACCTTGCTGGAAACCAG	0.552																																																1	Substitution - coding silent(1)	ovary(1)	22											99	81	87					22																	50857872		2203	4300	6503	49204738	SO:0001819	synonymous_variant	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.826C>T	22.37:g.50857872C>T			49204738	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37																																																																																					0.552	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		T	50857872	C	T	50857872	2	4	173	1	0	0	0	0	0	0	0	1	13840	796	28	2		2	SAPS2	22	50857872	Silent	SNP	C	TCGA-23-1027-01A-02W-0486-08		50857872	446694	37	9865											
PAFAH2	5051	hgsc.bcm.edu	37	1	26299186	26299186	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr1:26299186C>T	ENST00000374282.3	-	10	1126	c.947G>A	c.(946-948)aGt>aAt	p.S316N	PAFAH2_ENST00000374284.1_Missense_Mutation_p.S316N	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	316					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)	p.S316N(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGTTTGACTCCGATGAAC	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											59	56	57					1																	26299186		2203	4300	6503	26171773	SO:0001583	missense	5051			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.947G>A	1.37:g.26299186C>T	ENSP00000363400:p.Ser316Asn		26171773	D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	CCDS270.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757475	0.31137	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.48522	0.81;0.81	5.68	4.77	0.60923	.	0.068000	0.64402	N	0.000007	T	0.33147	0.0853	N	0.21508	0.67	0.39705	D	0.971247	B	0.19331	0.035	B	0.20767	0.031	T	0.13548	-1.0505	10	0.27082	T	0.32	-7.3595	11.7053	0.51593	0.0:0.9174:0.0:0.0826	.	316	Q99487	PAFA2_HUMAN	N	316	ENSP00000363400:S316N;ENSP00000363402:S316N	ENSP00000363400:S316N	S	-	2	0	PAFAH2	26171773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.735000	0.55044	1.419000	0.47118	0.555000	0.69702	AGT		0.498	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		T	26299186	C	T	26299186	3	4	174	1	0	0	0	0	1	0	0	0	11387	565	20	2	239	2	PAFAH2	1	26299186	Missense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10		26299186	222951435	1	9866											
TRNAU1AP	54952	hgsc.bcm.edu	37	1	28897732	28897732	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr1:28897732G>C	ENST00000373830.3	+	7	601	c.575G>C	c.(574-576)aGc>aCc	p.S192T		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	192	Tyr-rich.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S192T(1)		breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TACAGTTATAGCTACAACCAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											184	153	164					1																	28897732		2203	4300	6503	28770319	SO:0001583	missense	54952				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"RNA binding motif (RRM) containing"	30813	protein-coding gene	gene with protein product			"tRNA selenocysteine associated protein 1"	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.575G>C	1.37:g.28897732G>C	ENSP00000362936:p.Ser192Thr		28770319	Q86SU7	Missense_Mutation	SNP	ENST00000373830.3	37	CCDS324.1	.	.	.	.	.	.	.	.	.	.	G	9.643	1.139406	0.21205	.	.	ENSG00000180098	ENST00000373830	T	0.23348	1.91	5.87	3.95	0.45737	.	0.317040	0.40818	N	0.001018	T	0.10294	0.0252	N	0.08118	0	0.27978	N	0.936126	B	0.20052	0.041	B	0.16722	0.016	T	0.25779	-1.0122	10	0.12766	T	0.61	.	5.67	0.17717	0.1441:0.1803:0.6756:0.0	.	192	Q9NX07	TSAP1_HUMAN	T	192	ENSP00000362936:S192T	ENSP00000362936:S192T	S	+	2	0	TRNAU1AP	28770319	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.033000	0.49743	1.437000	0.47472	0.655000	0.94253	AGC		0.428	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		C	28897732	G	C	28897732	3	2	174	1	0	0	0	0	1	0	0	0	16572	971	34	3	601	3	TRNAU1AP	1	28897732	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10	2598546	28897732	220352889	2	9867											
IL6R	3570	hgsc.bcm.edu	37	1	154420632	154420632	+	Silent	SNP	G	G	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr1:154420632G>T	ENST00000368485.3	+	7	1418	c.981G>T	c.(979-981)gtG>gtT	p.V327V	IL6R_ENST00000344086.4_Silent_p.V327V|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	327					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.V327V(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	AGAACGAGGTGTCCACCCCCA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	1											108	107	107					1																	154420632		2203	4300	6503	152687256	SO:0001819	synonymous_variant	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.981G>T	1.37:g.154420632G>T			152687256	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	37	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	G	3.356	-0.131454	0.06753	.	.	ENSG00000160712	ENST00000476006;ENST00000515190	.	.	.	3.33	1.4	0.22301	.	.	.	.	.	T	0.10208	0.0250	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31081	-0.9956	4	.	.	.	12.1515	4.869	0.13622	0.1237:0.2178:0.6585:0.0	.	.	.	.	F	266;130	.	.	C	+	2	0	IL6R	152687256	0.003000	0.15002	0.000000	0.03702	0.150000	0.21749	1.105000	0.31086	0.390000	0.25115	0.655000	0.94253	TGT		0.542	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		T	154420632	G	T	154420632	2	4	174	1	0	0	0	0	0	0	0	1	7702	1364	48	3		3	IL6R	1	154420632	Silent	SNP	G	TCGA-23-1028-01A-01W-0484-10	125522900	154420632	94829989	3	9868											
IQGAP3	128239	hgsc.bcm.edu	37	1	156496299	156496299	+	Silent	SNP	G	G	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr1:156496299G>A	ENST00000361170.2	-	38	4885	c.4875C>T	c.(4873-4875)aaC>aaT	p.N1625N	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1625					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.N1625N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAAACTTCTTGTTGAGGAGGA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	1											109	91	97					1																	156496299		2203	4300	6503	154762923	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4875C>T	1.37:g.156496299G>A			154762923	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																				0.493	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		A	156496299	G	A	156496299	2	1	174	1	0	0	0	0	0	0	0	1	7816	1368	48	2		2	IQGAP3	1	156496299	Silent	SNP	G	TCGA-23-1028-01A-01W-0484-10	2075667	156496299	92754322	4	9869											
TAF1B	9014	hgsc.bcm.edu	37	2	10045024	10045024	+	Frame_Shift_Del	DEL	G	G	-	rs396190	byFrequency	TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr2:10045024delG	ENST00000263663.5	+	9	1032	c.844delG	c.(844-846)gtafs	p.V282fs	TAF1B_ENST00000396242.3_Frame_Shift_Del_p.V27fs	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	282	C-terminal cyclin fold.		V -> I (in dbSNP:rs396190). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7801123}.		gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.V282fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAAAAAAACAGTAGAAGTTGG	0.338																																																1	Deletion - Frameshift(1)	ovary(1)	2											81	70	74					2																	10045024		2203	4300	6503	9962475	SO:0001589	frameshift_variant	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.844delG	2.37:g.10045024delG	ENSP00000263663:p.Val282fs		9962475	B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	ENST00000263663.5	37	CCDS33143.1																																																																																				0.338	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		-	10045024	G	-	10045024	7	5	174	1	0	1	0	1	0	0	0	0	15520	1029	36	0	878	0	TAF1B	2	10045024	Frame_Shift_Del	DEL	G	TCGA-23-1028-01A-01W-0484-10		10045024	233154349	5	9870											
GPR113	165082	hgsc.bcm.edu	37	2	26535951	26535951	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr2:26535951G>C	ENST00000311519.1	-	10	1512	c.1513C>G	c.(1513-1515)Cca>Gca	p.P505A	GPR113_ENST00000333478.6_Missense_Mutation_p.P306A|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.P436A|GPR113_ENST00000541401.1_Missense_Mutation_p.P108A	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	505					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P306T(1)|p.P306A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGATCTGTGGCACCTCCTCA	0.587																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	2											101	88	93					2																	26535951		2203	4300	6503	26389455	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1513C>G	2.37:g.26535951G>C	ENSP00000307831:p.Pro505Ala		26389455	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.332838	0.24167	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.82	4.03	0.46877	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.16727	0.0402	L	0.55481	1.735	0.80722	D	1	P;B;P;B	0.46142	0.846;0.007;0.873;0.007	B;B;P;B	0.56088	0.41;0.017;0.791;0.017	T	0.01136	-1.1440	9	0.35671	T	0.21	-5.0457	9.1166	0.36762	0.1683:0.0:0.8317:0.0	.	436;306;505;108	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	A	108;306;436;505	ENSP00000445729:P108A;ENSP00000327396:P306A;ENSP00000388537:P436A;ENSP00000307831:P505A	ENSP00000307831:P505A	P	-	1	0	GPR113	26389455	0.989000	0.36119	0.506000	0.27664	0.087000	0.18053	2.512000	0.45485	0.817000	0.34445	0.655000	0.94253	CCA		0.587	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		C	26535951	G	C	26535951	3	2	174	1	0	0	0	0	1	0	0	0	6630	1203	42	3	1831	3	GPR113	2	26535951	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10	16490927	26535951	216663422	6	9871											
KIAA1841	84542	hgsc.bcm.edu	37	2	61315323	61315324	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr2:61315323_61315324delTG	ENST00000402291.1	+	9	1161_1162	c.920_921delTG	c.(919-921)ctgfs	p.L307fs	KIAA1841_ENST00000356719.2_Frame_Shift_Del_p.L307fs|KIAA1841_ENST00000453873.1_Frame_Shift_Del_p.L307fs|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Frame_Shift_Del_p.L307fs	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	307								p.F308fs*1(1)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATTGAAAGACTGTTTGATCCTG	0.302																																																1	Deletion - Frameshift(1)	ovary(1)	2																																								61168828	SO:0001589	frameshift_variant	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.920_921delTG	2.37:g.61315323_61315324delTG	ENSP00000385579:p.Leu307fs		61168827	Q49AF0|Q6ZND0|Q96JI6	Frame_Shift_Del	DEL	ENST00000402291.1	37	CCDS46296.1																																																																																				0.302	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		-	61315324	TG	-	61315323	7	5	174	1	0	1	0	1	0	0	0	0	8261	1580	55	0	946	0	KIAA1841	2	61315323	Frame_Shift_Del	DEL	TG	TCGA-23-1028-01A-01W-0484-10	34779372	61315323	181884050	7	9872											
MFSD6	54842	hgsc.bcm.edu	37	2	191301317	191301317	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr2:191301317T>G	ENST00000392328.1	+	3	886	c.562T>G	c.(562-564)Ttc>Gtc	p.F188V	MFSD6_ENST00000281416.7_Missense_Mutation_p.F188V	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	188					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F188V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CTTTACCTCTTTCCTCACCAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											82	91	87					2																	191301317		2203	4300	6503	191009562	SO:0001583	missense	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.562T>G	2.37:g.191301317T>G	ENSP00000376141:p.Phe188Val		191009562	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	T	0.147	-1.095460	0.01858	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.29142	1.58;1.58	5.29	-0.272	0.12919	Major facilitator superfamily domain, general substrate transporter (1);	0.928689	0.09281	N	0.823667	T	0.17323	0.0416	L	0.36672	1.1	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.33317	-0.9873	10	0.12766	T	0.61	-0.0482	1.6266	0.02724	0.1695:0.3953:0.1743:0.2608	.	188	Q6ZSS7	MFSD6_HUMAN	V	188	ENSP00000376141:F188V;ENSP00000281416:F188V	ENSP00000281416:F188V	F	+	1	0	MFSD6	191009562	0.185000	0.23213	0.018000	0.16275	0.247000	0.25773	0.319000	0.19522	0.047000	0.15862	0.528000	0.53228	TTC		0.433	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			G	191301317	T	G	191301317	3	3	174	1	0	0	0	0	1	0	0	0	9535	1841	64	5	564	5	MFSD6	2	191301317	Missense_Mutation	SNP	T	TCGA-23-1028-01A-01W-0484-10	129985994	191301317	51898056	8	9873											
ZDBF2	57683	hgsc.bcm.edu	37	2	207174848	207174848	+	Frame_Shift_Del	DEL	A	A	-			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr2:207174848delA	ENST00000374423.3	+	5	5982	c.5596delA	c.(5596-5598)aaafs	p.K1867fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1867							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V1868fs*46(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTGTGAGACCAAAAAAGTTTC	0.418																																																1	Deletion - Frameshift(1)	ovary(1)	2											67	64	65					2																	207174848		1893	4115	6008	206883093	SO:0001589	frameshift_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5596delA	2.37:g.207174848delA	ENSP00000363545:p.Lys1867fs		206883093	Q6ZNP7|Q6ZSN8	Frame_Shift_Del	DEL	ENST00000374423.3	37	CCDS46501.1																																																																																				0.418	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		-	207174848	A	-	207174848	7	5	174	1	0	1	0	1	0	0	0	0	17599	131	5	0	5606	0	ZDBF2	2	207174848	Frame_Shift_Del	DEL	A	TCGA-23-1028-01A-01W-0484-10	15873531	207174848	36024525	9	9874											
RNF25	64320	hgsc.bcm.edu	37	2	219528823	219528823	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr2:219528823T>C	ENST00000295704.2	-	10	1677	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	413					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R413G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCGAGTCCTGCGGGGTGGG	0.652																																																1	Substitution - Missense(1)	ovary(1)	2											65	82	76					2																	219528823		2203	4300	6503	219237067	SO:0001583	missense	64320				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1237A>G	2.37:g.219528823T>C	ENSP00000295704:p.Arg413Gly		219237067	A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304821	0.60305	.	.	ENSG00000163481	ENST00000295704	T	0.51325	0.71	5.37	5.37	0.77165	.	0.162339	0.56097	D	0.000038	T	0.37598	0.1009	L	0.29908	0.895	0.40020	D	0.975391	P	0.42871	0.792	B	0.40329	0.326	T	0.27088	-1.0084	10	0.38643	T	0.18	-9.6402	13.2425	0.60006	0.0:0.0:0.0:1.0	.	413	Q96BH1	RNF25_HUMAN	G	413	ENSP00000295704:R413G	ENSP00000295704:R413G	R	-	1	2	RNF25	219237067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.423000	0.34837	2.254000	0.74563	0.533000	0.62120	AGG		0.652	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		C	219528823	T	C	219528823	3	2	174	1	0	0	0	0	1	0	0	0	13488	1579	55	4	146	4	RNF25	2	219528823	Missense_Mutation	SNP	T	TCGA-23-1028-01A-01W-0484-10	12353975	219528823	23670550	10	9875											
CAMK1	8536	hgsc.bcm.edu	37	3	9803325	9803325	+	Silent	SNP	C	C	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr3:9803325C>T	ENST00000256460.3	-	6	723	c.546G>A	c.(544-546)ccG>ccA	p.P182P	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.P182P(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCACGTATCCCGGAGTTCCAC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	3											68	71	70					3																	9803325		2203	4300	6503	9778325	SO:0001819	synonymous_variant	8536			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.546G>A	3.37:g.9803325C>T			9778325	Q3KPF6	Silent	SNP	ENST00000256460.3	37	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	6.741	0.505513	0.12822	.	.	ENSG00000134072	ENST00000421120	.	.	.	4.78	-9.56	0.00566	.	.	.	.	.	T	0.33527	0.0866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40365	-0.9567	4	.	.	.	-6.6674	1.7732	0.03016	0.291:0.3574:0.158:0.1937	.	.	.	.	R	29	.	.	G	-	1	0	CAMK1	9778325	0.000000	0.05858	0.851000	0.33527	0.709000	0.40893	-2.773000	0.00778	-1.818000	0.01218	-0.345000	0.07892	GGG		0.602	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		T	9803325	C	T	9803325	2	4	174	1	0	0	0	0	0	0	0	1	2596	639	23	1		1	CAMK1	3	9803325	Silent	SNP	C	TCGA-23-1028-01A-01W-0484-10		9803325	188219105	11	9876											
CCRL2	9034	hgsc.bcm.edu	37	3	46449636	46449636	+	Silent	SNP	C	C	T	rs200036183		TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr3:46449636C>T	ENST00000399036.3	+	2	418	c.66C>T	c.(64-66)agC>agT	p.S22S	CCRL2_ENST00000400880.3_Silent_p.S22S|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Silent_p.S34S|CCRL2_ENST00000400882.2_Silent_p.S22S	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	22					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)	p.S22S(1)		lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		AACTGGAGAGCGATGAGGCAG	0.522													C|||	1	0.000199681	8e-04	0	5008	,	,		20273	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	3						C	,	5,4233		0,5,2114	74	74	74		102,66	1.9	0	3		74	0,8458		0,0,4229	no	coding-synonymous,coding-synonymous	CCRL2	NM_001130910.1,NM_003965.4	,	0,5,6343	TT,TC,CC		0.0,0.118,0.0394	,	34/357,22/345	46449636	5,12691	2119	4229	6348	46424640	SO:0001819	synonymous_variant	9034			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"GPCR / Class A : Chemokine receptors : Atypical"	1612	protein-coding gene	gene with protein product	"atypical chemokine receptor 5"	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.66C>T	3.37:g.46449636C>T			46424640	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Silent	SNP	ENST00000399036.3	37	CCDS43079.1																																																																																				0.522	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			T	46449636	C	T	46449636	2	4	174	1	0	0	0	0	0	0	0	1	2950	767	27	1		1	CCRL2	3	46449636	Silent	SNP	C	TCGA-23-1028-01A-01W-0484-10	36646311	46449636	151572794	12	9877											
BBX	56987	hgsc.bcm.edu	37	3	107435479	107435479	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr3:107435479T>C	ENST00000325805.8	+	5	475	c.188T>C	c.(187-189)cTa>cCa	p.L63P	BBX_ENST00000402543.1_Missense_Mutation_p.L63P|BBX_ENST00000415149.2_Missense_Mutation_p.L63P|BBX_ENST00000406780.1_Missense_Mutation_p.L63P|BBX_ENST00000416476.2_Missense_Mutation_p.L63P			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	63					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.L63P(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)			GCCGATGGCCTAGAGCAAGAT	0.408																																																1	Substitution - Missense(1)	ovary(1)	3											99	96	97					3																	107435479		2203	4300	6503	108918169	SO:0001583	missense	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.188T>C	3.37:g.107435479T>C	ENSP00000319974:p.Leu63Pro		108918169	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018213	0.35606	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000431630;ENST00000449335;ENST00000456817;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000449213;ENST00000457496;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98633	-4.57;-4.58;-4.58;-4.95;-5.04;-4.97;-4.96;-5.04;-4.57;-4.39;-1.72;-4.55;-4.56	5.06	3.9	0.45041	.	0.485693	0.21788	N	0.069112	D	0.97554	0.9199	N	0.17082	0.46	0.80722	D	1	B;B;B;D	0.76494	0.036;0.036;0.013;0.999	B;B;B;D	0.83275	0.01;0.01;0.028;0.996	D	0.96491	0.9364	10	0.42905	T	0.14	-7.0966	10.4348	0.44428	0.0:0.0771:0.0:0.9229	.	63;63;63;63	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	P	63;63;63;63;63;93;63;63;63;63;63;63;63;63;63;63;63;63	ENSP00000408358:L63P;ENSP00000385317:L63P;ENSP00000319974:L63P;ENSP00000413320:L63P;ENSP00000403860:L63P;ENSP00000408297:L63P;ENSP00000413274:L63P;ENSP00000385518:L63P;ENSP00000385530:L63P;ENSP00000403806:L63P;ENSP00000406554:L63P;ENSP00000407662:L63P;ENSP00000414673:L63P	ENSP00000319974:L63P	L	+	2	0	BBX	108918169	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.682000	0.46934	2.028000	0.59812	0.377000	0.23210	CTA		0.408	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		C	107435479	T	C	107435479	3	2	174	1	0	0	0	0	1	0	0	0	1343	1522	53	4	194	4	BBX	3	107435479	Missense_Mutation	SNP	T	TCGA-23-1028-01A-01W-0484-10	60985843	107435479	90586951	13	9878											
DNAH5	1767	hgsc.bcm.edu	37	5	13763005	13763005	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr5:13763005G>T	ENST00000265104.4	-	60	10211	c.10107C>A	c.(10105-10107)ttC>ttA	p.F3369L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3369	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F3369L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTCTTTTGGGAATTGCTATG	0.368									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											56	54	55					5																	13763005		2203	4300	6503	13816005	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10107C>A	5.37:g.13763005G>T	ENSP00000265104:p.Phe3369Leu		13816005	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095651	0.76870	.	.	ENSG00000039139	ENST00000265104	T	0.78003	-1.14	5.69	2.85	0.33270	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.89476	0.6726	H	0.96142	3.775	0.58432	D	0.999998	D	0.76494	0.999	D	0.77004	0.989	D	0.87559	0.2470	10	0.62326	D	0.03	.	6.1137	0.20114	0.4979:0.0:0.5021:0.0	.	3369	Q8TE73	DYH5_HUMAN	L	3369	ENSP00000265104:F3369L	ENSP00000265104:F3369L	F	-	3	2	DNAH5	13816005	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.372000	0.34261	0.702000	0.31825	0.561000	0.74099	TTC		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13763005	G	T	13763005	3	4	174	1	0	0	0	0	1	0	0	0	4604	1165	41	3	3847	3	DNAH5	5	13763005	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10		13763005	167152255	14	9879											
DNAH5	1767	hgsc.bcm.edu	37	5	13868012	13868012	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr5:13868012C>A	ENST00000265104.4	-	25	4028	c.3924G>T	c.(3922-3924)aaG>aaT	p.K1308N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1308	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1308N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGCCAGCAGCTTCTCCCAAG	0.428									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											124	106	112					5																	13868012		2203	4300	6503	13921012	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3924G>T	5.37:g.13868012C>A	ENSP00000265104:p.Lys1308Asn		13921012	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	8.751	0.921381	0.17982	.	.	ENSG00000039139	ENST00000265104	T	0.23348	1.91	5.12	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.52011	1.625	0.49798	D	0.999827	B	0.18610	0.029	B	0.21151	0.033	T	0.07790	-1.0754	10	0.15499	T	0.54	.	4.6134	0.12413	0.1441:0.5523:0.0:0.3036	.	1308	Q8TE73	DYH5_HUMAN	N	1308	ENSP00000265104:K1308N	ENSP00000265104:K1308N	K	-	3	2	DNAH5	13921012	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	0.879000	0.28146	0.578000	0.29487	-0.136000	0.14681	AAG		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13868012	C	A	13868012	3	1	174	1	0	0	0	0	1	0	0	0	4604	796	28	3	10170	3	DNAH5	5	13868012	Missense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10	105007	13868012	167047248	15	9880											
MCCC2	64087	hgsc.bcm.edu	37	5	70900297	70900297	+	Splice_Site	SNP	T	T	C			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr5:70900297T>C	ENST00000340941.6	+	6	753		c.e6+2		MCCC2_ENST00000510895.2_Splice_Site|MCCC2_ENST00000509358.2_Splice_Site|MCCC2_ENST00000323375.8_Splice_Site	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)						biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.?(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	ATTGCACAGGTAATTTTTCAT	0.358																																																1	Unknown(1)	ovary(1)	5											92	87	88					5																	70900297		2203	4300	6503	70936053	SO:0001630	splice_region_variant	64087			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.624+2T>C	5.37:g.70900297T>C			70936053	A6NIY9|Q96C27|Q9Y4L7	Splice_Site	SNP	ENST00000340941.6	37	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098115	0.56183	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7865	0.69808	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCCC2	70936053	1.000000	0.71417	0.997000	0.53966	0.632000	0.37999	7.430000	0.80321	2.182000	0.69389	0.456000	0.33151	.		0.358	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4		Intron	C	70900297	T	C	70900297	5	2	174	1	0	0	0	0	0	0	1	0	9375	1652	57	4	648	4	MCCC2	5	70900297	Splice_Site	SNP	T	TCGA-23-1028-01A-01W-0484-10	57032285	70900297	110014963	16	9881											
SLCO6A1	133482	hgsc.bcm.edu	37	5	101709112	101709112	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr5:101709112G>T	ENST00000506729.1	-	13	2275	c.2104C>A	c.(2104-2106)Cca>Aca	p.P702T	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P449T|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P702T|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P449T|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P640T			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	702						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P702T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTTACATCTGGGAAGTCAGTG	0.308																																																1	Substitution - Missense(1)	ovary(1)	5											140	141	141					5																	101709112		2202	4298	6500	101737011	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2104C>A	5.37:g.101709112G>T	ENSP00000421339:p.Pro702Thr		101737011	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	2.994	-0.207574	0.06180	.	.	ENSG00000205359	ENST00000506729;ENST00000511588;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.41400	1.01;1.01;1.07;1.0;1.0	3.34	-2.3	0.06785	.	6.813090	0.00397	N	0.000042	T	0.30448	0.0765	L	0.36672	1.1	0.09310	N	1	P;B;B	0.36837	0.571;0.286;0.435	B;B;B	0.38712	0.28;0.082;0.145	T	0.05852	-1.0860	10	0.16896	T	0.51	.	2.6766	0.05083	0.3627:0.0:0.2901:0.3472	.	640;449;702	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	T	702;8;702;640;449;449	ENSP00000421339:P702T;ENSP00000369135:P702T;ENSP00000373671:P640T;ENSP00000421990:P449T;ENSP00000369138:P449T	ENSP00000369135:P702T	P	-	1	0	SLCO6A1	101737011	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.530000	0.02221	-0.563000	0.06078	-0.355000	0.07637	CCA		0.308	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		T	101709112	G	T	101709112	3	4	174	1	0	0	0	0	1	0	0	0	14735	1232	43	3	59	3	SLCO6A1	5	101709112	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10	30808815	101709112	79206148	17	9882											
NCR2	9436	hgsc.bcm.edu	37	6	41304034	41304034	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr6:41304034G>C	ENST00000373089.5	+	2	350	c.262G>C	c.(262-264)Gat>Cat	p.D88H	NCR2_ENST00000373086.3_Missense_Mutation_p.D88H|NCR2_ENST00000373083.4_Missense_Mutation_p.D88H	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	88	Ig-like.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.D88H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGACGACCCTGATGCTGGCTT	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											79	75	76					6																	41304034		2203	4300	6503	41412012	SO:0001583	missense	9436			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	6732	protein-coding gene	gene with protein product		604531	"lymphocyte antigen 95 (activating NK-receptor; NK-p44)"	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.262G>C	6.37:g.41304034G>C	ENSP00000362181:p.Asp88His		41412012	Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	ENST00000373089.5	37	CCDS4855.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100204	0.20552	.	.	ENSG00000096264	ENST00000373083;ENST00000373089;ENST00000373086	T;T;T	0.66638	-0.22;-0.22;-0.22	4.39	-3.89	0.04193	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32882	0.0844	L	0.33339	1.005	0.09310	N	1	B;B;B	0.18741	0.03;0.03;0.005	B;B;B	0.21917	0.037;0.037;0.01	T	0.43556	-0.9384	9	0.51188	T	0.08	.	11.4161	0.49954	0.8363:0.0:0.1637:0.0	.	88;88;88	O95944-3;O95944-2;O95944	.;.;NCTR2_HUMAN	H	88	ENSP00000362175:D88H;ENSP00000362181:D88H;ENSP00000362178:D88H	ENSP00000362175:D88H	D	+	1	0	NCR2	41412012	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.493000	0.02298	-0.712000	0.04988	0.655000	0.94253	GAT		0.512	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			C	41304034	G	C	41304034	3	2	174	1	0	0	0	0	1	0	0	0	10238	1290	45	3	268	3	NCR2	6	41304034	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10		41304034	129811033	18	9883											
PION	54103	hgsc.bcm.edu	37	7	76950105	76950105	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr7:76950105C>T	ENST00000257626.7	-	26	2104	c.2026G>A	c.(2026-2028)Gtt>Att	p.V676I	GSAP_ENST00000441833.2_5'UTR|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	676					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.V676I(1)									ATGTGAAAAACTGCAAATTCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	7											74	73	73					7																	76950105		1912	4129	6041	76788041	SO:0001583	missense	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2026G>A	7.37:g.76950105C>T	ENSP00000257626:p.Val676Ile		76788041	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944624	0.73672	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.32272	1.46;1.46	5.76	4.88	0.63580	.	0.127905	0.53938	N	0.000045	T	0.39759	0.1090	M	0.67953	2.075	0.80722	D	1	P	0.46859	0.885	P	0.48189	0.57	T	0.22871	-1.0204	10	0.41790	T	0.15	.	11.9472	0.52934	0.0:0.9184:0.0:0.0816	.	676	A4D1B5	GSAP_HUMAN	I	676;129	ENSP00000257626:V676I;ENSP00000396230:V129I	ENSP00000257626:V676I	V	-	1	0	PION	76788041	0.956000	0.32656	0.883000	0.34634	0.896000	0.52359	2.075000	0.41538	1.423000	0.47198	0.655000	0.94253	GTT		0.423	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		T	76950105	C	T	76950105	3	4	174	1	0	0	0	0	1	0	0	0	11934	565	20	2	562	2	PION	7	76950105	Missense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10		76950105	82188558	19	9884											
CSPP1	79848	hgsc.bcm.edu	37	8	68105774	68105775	+	Frame_Shift_Ins	INS	-	-	G	rs560351612		TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr8:68105774_68105775insG	ENST00000262210.5	+	28	3422_3423	c.3391_3392insG	c.(3391-3393)agafs	p.R1131fs	CSPP1_ENST00000412460.1_Frame_Shift_Ins_p.R786fs|CSPP1_ENST00000521168.1_Intron|ARFGEF1_ENST00000520381.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1166					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.V1132fs*4(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGATGAGCTTAGAGTGAGAAAT	0.376																																																1	Insertion - Frameshift(1)	ovary(1)	8																																								68268329	SO:0001589	frameshift_variant	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3392dupG	8.37:g.68105775_68105775dupG	ENSP00000262210:p.Arg1131fs		68268328	A6ND63|Q70F00|Q8TBC1	Frame_Shift_Ins	INS	ENST00000262210.5	37	CCDS43744.1																																																																																				0.376	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		G	68105775	-	G	68105774	7	5	174	1	0	1	1	0	0	0	0	0	3962	412	15	0	3614	0	CSPP1	8	68105774	Frame_Shift_Ins	INS	-	TCGA-23-1028-01A-01W-0484-10		68105774	78258248	20	9885											
HAS2	3037	hgsc.bcm.edu	37	8	122641020	122641020	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr8:122641020C>A	ENST00000303924.4	-	2	1098	c.561G>T	c.(559-561)tgG>tgT	p.W187C		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	187					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.W187*(1)|p.W187C(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTCCACCCCATTTTTGCA	0.463																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|lung(1)	8											232	210	217					8																	122641020		2203	4300	6503	122710201	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.561G>T	8.37:g.122641020C>A	ENSP00000306991:p.Trp187Cys		122710201	Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113366	0.77210	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.59364	0.27	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77598	-0.2528	10	0.54805	T	0.06	-11.0399	20.5827	0.99408	0.0:1.0:0.0:0.0	.	187	Q92819	HAS2_HUMAN	C	187	ENSP00000306991:W187C	ENSP00000306991:W187C	W	-	3	0	HAS2	122710201	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.941000	0.99782	0.655000	0.94253	TGG		0.463	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		A	122641020	C	A	122641020	3	1	174	1	0	0	0	0	1	0	0	0	6962	624	22	3	1109	3	HAS2	8	122641020	Missense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10	54535246	122641020	23723002	21	9886											
COMMD5	28991	hgsc.bcm.edu	37	8	146076705	146076705	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr8:146076705C>T	ENST00000305103.3	-	2	271	c.19G>A	c.(19-21)Gca>Aca	p.A7T	COMMD5_ENST00000450361.2_Missense_Mutation_p.A7T|ZNF250_ENST00000543949.1_3'UTR|COMMD5_ENST00000402718.3_Missense_Mutation_p.A7T|AF235103.1_ENST00000578937.1_RNA	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	7						nucleus (GO:0005634)		p.A7T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TATGGAGTTGCAGCCCCCACA	0.587																																																1	Substitution - Missense(1)	ovary(1)	8											65	68	67					8																	146076705		2203	4300	6503	146047509	SO:0001583	missense	28991			AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.19G>A	8.37:g.146076705C>T	ENSP00000304544:p.Ala7Thr		146047509	D3DWN7|Q9NVN6|Q9UHX5	Missense_Mutation	SNP	ENST00000305103.3	37	CCDS6436.1	.	.	.	.	.	.	.	.	.	.	C	9.950	1.219767	0.22373	.	.	ENSG00000170619	ENST00000402718;ENST00000450361;ENST00000305103;ENST00000529143;ENST00000533270	T;T;T;T;T	0.36878	1.25;1.25;1.25;1.23;1.23	4.69	3.8	0.43715	.	0.216830	0.30820	N	0.008812	T	0.32194	0.0821	L	0.57536	1.79	0.50313	D	0.999863	B	0.33826	0.427	B	0.29176	0.099	T	0.17868	-1.0355	10	0.62326	D	0.03	-11.4731	10.3847	0.44132	0.1963:0.8037:0.0:0.0	.	7	Q9GZQ3	COMD5_HUMAN	T	7	ENSP00000385793:A7T;ENSP00000394331:A7T;ENSP00000304544:A7T;ENSP00000435552:A7T;ENSP00000433758:A7T	ENSP00000304544:A7T	A	-	1	0	COMMD5	146047509	0.006000	0.16342	0.006000	0.13384	0.257000	0.26127	0.094000	0.15107	1.078000	0.41014	0.557000	0.71058	GCA		0.587	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066		T	146076705	C	T	146076705	3	4	174	1	0	0	0	0	1	0	0	0	3719	710	25	2	659	2	COMMD5	8	146076705	Missense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10	23435685	146076705	287317	22	9887											
ITGA8	8516	hgsc.bcm.edu	37	10	15720743	15720743	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr10:15720743C>A	ENST00000378076.3	-	5	961	c.608G>T	c.(607-609)gGa>gTa	p.G203V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	203					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.G203V(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAGACTAAATCCTGCTTGGCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	10											92	96	94					10																	15720743		2203	4300	6503	15760749	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.608G>T	10.37:g.15720743C>A	ENSP00000367316:p.Gly203Val		15760749	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953068	0.92660	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.20463	2.07	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75668	-0.3238	10	0.87932	D	0	.	19.6746	0.95926	0.0:1.0:0.0:0.0	.	203;203	F5H818;P53708	.;ITA8_HUMAN	V	203	ENSP00000367316:G203V	ENSP00000367316:G203V	G	-	2	0	ITGA8	15760749	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.676000	0.74498	2.654000	0.90174	0.655000	0.94253	GGA		0.363	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		A	15720743	C	A	15720743	3	1	174	1	0	0	0	0	1	0	0	0	7882	855	30	3	2687	3	ITGA8	10	15720743	Missense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10		15720743	119814004	23	9888											
MYST4	23522	hgsc.bcm.edu	37	10	76781770	76781770	+	Silent	SNP	C	C	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr10:76781770C>T	ENST00000287239.4	+	16	3642	c.3153C>T	c.(3151-3153)agC>agT	p.S1051S	KAT6B_ENST00000372711.1_Silent_p.S868S|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372725.1_Silent_p.S759S|KAT6B_ENST00000372724.1_Silent_p.S759S|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Silent_p.S759S|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1051					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1051S(1)									CCCCGGAGAGCCGGCCAGTCA	0.512											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	10											37	39	39					10																	76781770		2203	4300	6503	76451776	SO:0001819	synonymous_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3153C>T	10.37:g.76781770C>T		1170	76451776	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	CCDS7345.1																																																																																				0.512	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		T	76781770	C	T	76781770	2	4	174	1	0	0	0	0	0	0	0	1	10105	738	26	2		2	MYST4	10	76781770	Silent	SNP	C	TCGA-23-1028-01A-01W-0484-10	61061027	76781770	58752977	24	9889											
ACCSL	390110	hgsc.bcm.edu	37	11	44069679	44069679	+	Silent	SNP	G	G	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr11:44069679G>A	ENST00000378832.1	+	1	149	c.93G>A	c.(91-93)gaG>gaA	p.E31E		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	31					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.E31E(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGCTGTTGGAGATAACGCTGC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	11											48	53	51					11																	44069679		2056	4209	6265	44026255	SO:0001819	synonymous_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.93G>A	11.37:g.44069679G>A			44026255		Silent	SNP	ENST00000378832.1	37	CCDS41636.1																																																																																				0.602	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		A	44069679	G	A	44069679	2	1	174	1	0	0	0	0	0	0	0	1	134	933	33	2		2	ACCSL	11	44069679	Silent	SNP	G	TCGA-23-1028-01A-01W-0484-10		44069679	90936837	25	9890											
OR6T1	219874	hgsc.bcm.edu	37	11	123814385	123814385	+	Missense_Mutation	SNP	C	C	T	rs368321030		TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr11:123814385C>T	ENST00000321252.2	-	1	195	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R54H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TATGTGCAGGCGTTGGTCTAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	11						T	HIS/ARG	0,4404		0,0,2202	133	123	126		161	-1.4	0	11		126	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR6T1	NM_001005187.1	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	54/324	123814385	1,13001	2202	4299	6501	123319595	SO:0001583	missense	219874			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.161G>A	11.37:g.123814385C>T	ENSP00000325203:p.Arg54His		123319595	Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.475526	0.01035	0.0	1.16E-4	ENSG00000181499	ENST00000321252	T	0.00476	7.15	4.26	-1.42	0.08913	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	N	0.21583	0.68	0.09310	N	1	B	0.21225	0.053	B	0.17979	0.02	T	0.37384	-0.9708	9	0.02654	T	1	-19.5441	4.9088	0.13811	0.0:0.3514:0.1601:0.4885	.	54	Q8NGN1	OR6T1_HUMAN	H	54	ENSP00000325203:R54H	ENSP00000325203:R54H	R	-	2	0	OR6T1	123319595	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-2.850000	0.00732	-0.266000	0.09339	-0.119000	0.15052	CGC		0.493	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		T	123814385	C	T	123814385	3	4	174	1	0	0	0	0	1	0	0	0	11210	768	27	1	813	1	OR6T1	11	123814385	Missense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10	79744706	123814385	11192131	26	9891											
LRP1	4035	hgsc.bcm.edu	37	12	57552345	57552345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr12:57552345C>A	ENST00000243077.3	+	11	2188	c.1722C>A	c.(1720-1722)taC>taA	p.Y574*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	574					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.Y574*(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTTCATCTACTTTGCCGACA	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	12											94	78	83					12																	57552345		2203	4300	6503	55838612	SO:0001587	stop_gained	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1722C>A	12.37:g.57552345C>A	ENSP00000243077:p.Tyr574*		55838612	Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	43	9.927459	0.99298	.	.	ENSG00000123384	ENST00000243077	.	.	.	4.3	2.49	0.30216	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5353	0.33360	0.0:0.8088:0.0:0.1912	.	.	.	.	X	574	.	ENSP00000243077:Y574X	Y	+	3	2	LRP1	55838612	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.465000	0.45075	0.772000	0.33382	0.561000	0.74099	TAC		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57552345	C	A	57552345	4	1	174	1	0	0	0	0	0	1	0	0	8951	576	20	3	1764	3	LRP1	12	57552345	Nonsense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10		57552345	76299550	27	9892											
PLXNC1	10154	hgsc.bcm.edu	37	12	94641843	94641843	+	Silent	SNP	G	G	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr12:94641843G>T	ENST00000258526.4	+	13	2802	c.2553G>T	c.(2551-2553)gtG>gtT	p.V851V		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	851					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.V851V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGTATCGGGTGGAATCCGAGG	0.507																																																1	Substitution - coding silent(1)	ovary(1)	12											86	78	81					12																	94641843		2203	4300	6503	93165974	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2553G>T	12.37:g.94641843G>T			93165974	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																				0.507	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			T	94641843	G	T	94641843	2	4	174	1	0	0	0	0	0	0	0	1	12126	1335	47	3		3	PLXNC1	12	94641843	Silent	SNP	G	TCGA-23-1028-01A-01W-0484-10	37089498	94641843	39210052	28	9893											
OAS3	4940	hgsc.bcm.edu	37	12	113379415	113379415	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr12:113379415G>T	ENST00000228928.7	+	2	397	c.218G>T	c.(217-219)tGt>tTt	p.C73F	OAS3_ENST00000546638.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Missense_Mutation_p.C73F|OAS3_ENST00000548514.1_Missense_Mutation_p.C73F	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	73	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.C73F(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AAGGGTGGCTGTGATTCTGAA	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											84	87	86					12																	113379415		1936	4122	6058	111863798	SO:0001583	missense	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.218G>T	12.37:g.113379415G>T	ENSP00000228928:p.Cys73Phe		111863798	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174679	0.38413	.	.	ENSG00000111331	ENST00000228928;ENST00000551007;ENST00000548514;ENST00000323881	T;T;T	0.07021	3.23;3.23;3.23	3.69	0.583	0.17417	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	.	.	.	.	T	0.20129	0.0484	L	0.61218	1.895	0.09310	N	1	P;D;D	0.76494	0.561;0.999;0.999	B;D;D	0.74348	0.086;0.983;0.977	T	0.08066	-1.0740	9	0.87932	D	0	.	5.5372	0.17018	0.1207:0.4202:0.4591:0.0	.	73;73;73	Q9Y6K5;F8VS35;F8VWK9	OAS3_HUMAN;.;.	F	73	ENSP00000228928:C73F;ENSP00000449299:C73F;ENSP00000448388:C73F	ENSP00000228928:C73F	C	+	2	0	OAS3	111863798	0.001000	0.12720	0.000000	0.03702	0.928000	0.56348	-0.050000	0.11904	0.007000	0.14760	0.561000	0.74099	TGT		0.542	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			T	113379415	G	T	113379415	3	4	174	1	0	0	0	0	1	0	0	0	10801	1377	48	3	224	3	OAS3	12	113379415	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10	18737572	113379415	20472480	29	9894											
RASAL1	8437	hgsc.bcm.edu	37	12	113565669	113565671	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr12:113565669_113565671delGTC	ENST00000261729.5	-	5	559_561	c.244_246delGAC	c.(244-246)gacdel	p.D82del	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_In_Frame_Del_p.D82del|RASAL1_ENST00000446861.3_In_Frame_Del_p.D82del|RASAL1_ENST00000546530.1_In_Frame_Del_p.D82del			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	82	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGCCGATGATGTCGTCGTGCCTG	0.67																																																0			12																																								112050054	SO:0001651	inframe_deletion	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.244_246delGAC	12.37:g.113565672_113565674delGTC	ENSP00000261729:p.Asp82del		112050052	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	In_Frame_Del	DEL	ENST00000261729.5	37	CCDS9165.1																																																																																				0.67	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		-	113565671	GTC	-	113565669	7	5	174	1	0	1	0	1	0	0	0	0	13066	1368	48	0	2240	0	RASAL1	12	113565669	In_Frame_Del	DEL	GTC	TCGA-23-1028-01A-01W-0484-10	186254	113565669	20286226	30	9895											
FRY	10129	hgsc.bcm.edu	37	13	32731510	32731510	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr13:32731510G>C	ENST00000380250.3	+	16	2248	c.1752G>C	c.(1750-1752)caG>caC	p.Q584H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	584						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q584H(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTAATGTACAGATGTTAAACA	0.363																																																1	Substitution - Missense(1)	ovary(1)	13											117	108	111					13																	32731510		1893	4109	6002	31629510	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1752G>C	13.37:g.32731510G>C	ENSP00000369600:p.Gln584His		31629510	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987652	0.35036	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.26660	1.72	5.41	1.81	0.25067	.	0.060066	0.64402	D	0.000002	T	0.40247	0.1109	L	0.58810	1.83	0.80722	D	1	P	0.46859	0.885	P	0.58130	0.833	T	0.18555	-1.0333	10	0.87932	D	0	.	11.9427	0.52909	0.1788:0.0:0.8212:0.0	.	584	Q5TBA9	FRY_HUMAN	H	584;512	ENSP00000369600:Q584H	ENSP00000267067:Q512H	Q	+	3	2	FRY	31629510	1.000000	0.71417	0.998000	0.56505	0.234000	0.25298	3.460000	0.53028	0.091000	0.17302	-2.789000	0.00116	CAG		0.363	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		C	32731510	G	C	32731510	3	2	174	1	0	0	0	0	1	0	0	0	6063	933	33	3	1814	3	FRY	13	32731510	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10		32731510	82438368	31	9896											
CYFIP1	23191	hgsc.bcm.edu	37	15	22963843	22963843	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr15:22963843G>A	ENST00000313077.7	+	21	2482	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	CYFIP1_ENST00000560848.1_Missense_Mutation_p.R786Q|CYFIP1_ENST00000435939.2_Missense_Mutation_p.R355Q	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.R786Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCGATTGGACGATTTGAAAGT	0.443																																																1	Substitution - Missense(1)	ovary(1)	15											136	126	129					15																	22963843		2203	4300	6503	20515284	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2357G>A	15.37:g.22963843G>A	ENSP00000324549:p.Arg786Gln		20515284		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056361	0.93793	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.23950	1.88;1.88	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000018	T	0.58623	0.2135	M	0.84433	2.695	0.80722	D	1	D;D;P	0.76494	0.999;0.973;0.952	D;B;P	0.75484	0.986;0.209;0.647	T	0.62704	-0.6798	10	0.66056	D	0.02	-12.9138	19.9036	0.96999	0.0:0.0:1.0:0.0	.	814;355;786	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	Q	786;814;355	ENSP00000324549:R786Q;ENSP00000405956:R355Q	ENSP00000324549:R786Q	R	+	2	0	CYFIP1	20515284	1.000000	0.71417	0.843000	0.33291	0.799000	0.45148	9.622000	0.98378	2.706000	0.92434	0.655000	0.94253	CGA		0.443	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		A	22963843	G	A	22963843	3	1	174	1	0	0	0	0	1	0	0	0	4137	1058	37	1	2816	1	CYFIP1	15	22963843	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10		22963843	79567549	32	9897											
RAD51	5888	hgsc.bcm.edu	37	15	41001312	41001312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr15:41001312C>T	ENST00000267868.3	+	5	701	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	RAD51_ENST00000382643.3_Nonsense_Mutation_p.Q146*|RAD51_ENST00000557850.1_Intron|RAD51_ENST00000532743.1_Nonsense_Mutation_p.Q146*|RAD51_ENST00000423169.2_Nonsense_Mutation_p.Q145*	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	145					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.Q145*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		TGTCACCTGCCAGGTGAGCTG	0.438								Homologous recombination																																								1	Substitution - Nonsense(1)	ovary(1)	15											84	79	80					15																	41001312		2203	4300	6503	38788604	SO:0001587	stop_gained	5888			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.433C>T	15.37:g.41001312C>T	ENSP00000267868:p.Gln145*		38788604	B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Nonsense_Mutation	SNP	ENST00000267868.3	37	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	C	38	6.717808	0.97784	.	.	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000267868;ENST00000532743;ENST00000382643	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.7379	19.4904	0.95048	0.0:1.0:0.0:0.0	.	.	.	.	X	145;145;145;146;146	.	ENSP00000267868:Q145X	Q	+	1	0	RAD51	38788604	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.618000	0.83043	2.708000	0.92522	0.561000	0.74099	CAG		0.438	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		T	41001312	C	T	41001312	4	4	174	1	0	0	0	0	0	1	0	0	12988	595	21	2	572	2	RAD51	15	41001312	Nonsense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10	18037469	41001312	61530080	33	9898											
UBL7	84993	hgsc.bcm.edu	37	15	74743861	74743861	+	Splice_Site	SNP	C	C	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr15:74743861C>T	ENST00000567435.1	-	5	851	c.388G>A	c.(388-390)Gtc>Atc	p.V130I	UBL7_ENST00000564488.1_Splice_Site_p.V130I|UBL7_ENST00000395081.2_Splice_Site_p.V130I|UBL7_ENST00000361351.4_Splice_Site_p.V130I|UBL7_ENST00000565335.1_Splice_Site_p.V130I			Q96S82	UBL7_HUMAN	ubiquitin-like 7	130								p.V130I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ATCTTAAAGACCTGCAGGAGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	15											92	86	88					15																	74743861		2197	4296	6493	72530914	SO:0001630	splice_region_variant	84993			BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived ubiquitin-like", " ubiquitin-like protein SB132"	609748	"ubiquitin-like 7 (bone marrow stromal cell-derived)"			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.388-1G>A	15.37:g.74743861C>T			72530914	D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	37	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469087	0.84533	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.46063	0.88;0.88	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.50333	1.59	0.58432	D	0.999998	P;P	0.47604	0.761;0.898	B;P	0.47891	0.441;0.56	T	0.27400	-1.0075	10	0.23302	T	0.38	-13.7446	18.9062	0.92462	0.0:1.0:0.0:0.0	.	170;130	D3DW56;Q96S82	.;UBL7_HUMAN	I	130	ENSP00000354883:V130I;ENSP00000378518:V130I	ENSP00000354883:V130I	V	-	1	0	UBL7	72530914	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.892000	0.69790	2.517000	0.84864	0.563000	0.77884	GTC		0.522	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265	Missense_Mutation	T	74743861	C	T	74743861	5	4	174	1	0	0	0	0	0	0	1	0	16890	521	18	2	782	2	UBL7	15	74743861	Splice_Site	SNP	C	TCGA-23-1028-01A-01W-0484-10	33742549	74743861	27787531	34	9899											
IL16	3603	hgsc.bcm.edu	37	15	81571970	81571970	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr15:81571970C>A	ENST00000302987.4	+	7	936	c.936C>A	c.(934-936)caC>caA	p.H312Q	IL16_ENST00000394660.2_Missense_Mutation_p.H312Q			Q14005	IL16_HUMAN	interleukin 16	312	Interaction with GRIN2A.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H312Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGTGCAGCCACCTGTCTCCCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	15											37	39	38					15																	81571970		1963	4154	6117	79359025	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.936C>A	15.37:g.81571970C>A	ENSP00000302935:p.His312Gln		79359025	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447758	0.26074	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.10192	2.9;2.9	4.95	1.93	0.25924	PDZ/DHR/GLGF (1);	0.442661	0.19316	N	0.117271	T	0.08223	0.0205	L	0.44542	1.39	0.54753	D	0.999983	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.24977	-1.0145	10	0.21014	T	0.42	.	6.241	0.20791	0.0:0.5049:0.3192:0.1759	.	312;312	Q14005;Q14005-2	IL16_HUMAN;.	Q	312;312;144;312	ENSP00000378155:H312Q;ENSP00000302935:H312Q	ENSP00000302935:H312Q	H	+	3	2	IL16	79359025	0.356000	0.24930	0.942000	0.38095	0.948000	0.59901	0.540000	0.23191	0.235000	0.21160	0.585000	0.79938	CAC		0.617	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		A	81571970	C	A	81571970	3	1	174	1	0	0	0	0	1	0	0	0	7633	506	18	3	962	3	IL16	15	81571970	Missense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10	6828109	81571970	20959422	35	9900											
ABCC1	4363	hgsc.bcm.edu	37	16	16130332	16130332	+	Silent	SNP	G	G	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr16:16130332G>A	ENST00000399410.3	+	7	856	c.681G>A	c.(679-681)ttG>ttA	p.L227L	ABCC1_ENST00000346370.5_Silent_p.L227L|ABCC1_ENST00000351154.5_Silent_p.L227L|ABCC1_ENST00000345148.5_Silent_p.L227L|ABCC1_ENST00000349029.5_Silent_p.L227L|ABCC1_ENST00000399408.2_Silent_p.L227L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	227					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L227L(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GCCCCAGGTTGATTGTCCGGG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	16											44	45	45					16																	16130332		1928	4134	6062	16037833	SO:0001819	synonymous_variant	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.681G>A	16.37:g.16130332G>A			16037833	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																				0.582	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		A	16130332	G	A	16130332	2	1	174	1	0	0	0	0	0	0	0	1	49	1281	45	2		2	ABCC1	16	16130332	Silent	SNP	G	TCGA-23-1028-01A-01W-0484-10		16130332	74224421	36	9901											
PHKG2	5261	hgsc.bcm.edu	37	16	30768418	30768418	+	Silent	SNP	G	G	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr16:30768418G>A	ENST00000563588.1	+	10	1460	c.1221G>A	c.(1219-1221)taG>taA	p.*407*	PHKG2_ENST00000328273.7_Silent_p.*411*|PHKG2_ENST00000424889.3_Intron	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	0					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.*407*(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TGCTGGGCTAGGACCTCAACC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	16											53	59	57					16																	30768418		2193	4299	6492	30675919	SO:0001819	synonymous_variant	5261			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.1221G>A	16.37:g.30768418G>A			30675919	A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	ENST00000563588.1	37	CCDS10690.1																																																																																				0.592	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		A	30768418	G	A	30768418	2	1	174	1	0	0	0	0	0	0	0	1	11847	995	35	2		2	PHKG2	16	30768418	Silent	SNP	G	TCGA-23-1028-01A-01W-0484-10	14638086	30768418	59586335	37	9902											
CCL17	6361	hgsc.bcm.edu	37	16	57449102	57449102	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr16:57449102T>A	ENST00000219244.4	+	3	309	c.180T>A	c.(178-180)gaT>gaA	p.D60E		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	60					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)	p.D60E(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)	5						GCTCCAGGGATGCCATCGTGT	0.617																																																1	Substitution - Missense(1)	ovary(1)	16											116	107	110					16																	57449102		2198	4300	6498	56006603	SO:0001583	missense	6361			D43767	CCDS10780.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102970	ENSG00000102970		"Chemokine ligands", "Endogenous ligands"	10615	protein-coding gene	gene with protein product		601520	"small inducible cytokine subfamily A (Cys-Cys), member 17"	SCYA17		8702936, 9070951	Standard	NM_002987		Approved	TARC, ABCD-2	uc002elj.1	Q92583	OTTHUMG00000133468	ENST00000219244.4:c.180T>A	16.37:g.57449102T>A	ENSP00000219244:p.Asp60Glu		56006603	A0N0Q9|Q2M287	Missense_Mutation	SNP	ENST00000219244.4	37	CCDS10780.1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.387485	0.01194	.	.	ENSG00000102970	ENST00000219244	T	0.04502	3.61	5.06	-10.1	0.00402	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.981306	0.08381	N	0.954619	T	0.01661	0.0053	.	.	.	0.19300	N	0.999978	B	0.21821	0.061	B	0.20767	0.031	T	0.39272	-0.9622	9	0.11182	T	0.66	-0.3954	0.9458	0.01365	0.2948:0.1868:0.3183:0.2001	.	60	Q92583	CCL17_HUMAN	E	60	ENSP00000219244:D60E	ENSP00000219244:D60E	D	+	3	2	CCL17	56006603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.242000	0.00138	-3.797000	0.00105	-1.646000	0.00762	GAT		0.617	CCL17-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257344.1	NM_002987		A	57449102	T	A	57449102	3	1	174	1	0	0	0	0	1	0	0	0	2888	1461	51	5	186	5	CCL17	16	57449102	Missense_Mutation	SNP	T	TCGA-23-1028-01A-01W-0484-10	26680684	57449102	32905651	38	9903											
TP53	7157	hgsc.bcm.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000574684.1_5'Flank	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	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)	GGTGAGGATGGGCCTCCGGTT	0.577		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"	80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(1)	17	GRCh37	CM973401	TP53	M							154	112	126					17																	7577532		2203	4300	6503	7518257	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.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu		7518257	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	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577532	G	A	7577532	3	1	174	1	0	0	0	0	1	0	0	0	16381	1232	43	2	541	2	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10		7577532	73617678	39	9904											
NF1	4763	hgsc.bcm.edu	37	17	29654578	29654581	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	TCTT	TCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr17:29654578_29654581delTCTT	ENST00000358273.4	+	38	5713_5716	c.5330_5333delTCTT	c.(5329-5334)gtctttfs	p.VF1777fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.VF1756fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1777	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.F1778fs*1(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGCAATCAGTCTTTCTAAATGAC	0.456			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17	GRCh37	CI032156	NF1	I																																				26678707	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5330_5333delTCTT	17.37:g.29654578_29654581delTCTT	ENSP00000351015:p.Val1777fs		26678704	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.456	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29654581	TCTT	-	29654578	7	5	174	1	0	1	0	1	0	0	0	0	10356	1667	58	0	5541	0	NF1	17	29654578	Frame_Shift_Del	DEL	TCTT	TCGA-23-1028-01A-01W-0484-10	22077046	29654578	51540632	40	9905											
TOP2A	7153	hgsc.bcm.edu	37	17	38569218	38569219	+	Frame_Shift_Ins	INS	-	-	CATGT			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr17:38569218_38569219insCATGT	ENST00000423485.1	-	7	739_740	c.581_582insACATG	c.(580-582)tggfs	p.W194fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	194					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TATTATCCATCCATGTCTATGG	0.332																																																0			17																																								35822745	SO:0001589	frameshift_variant	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.577_581dupACATG	17.37:g.38569219_38569223dupCATGT	ENSP00000411532:p.Trp194fs		35822744	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Frame_Shift_Ins	INS	ENST00000423485.1	37	CCDS45672.1																																																																																				0.332	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			CATGT	38569219	-	CATGT	38569218	7	5	174	1	0	1	1	0	0	0	0	0	16365	856	30	0	4129	0	TOP2A	17	38569218	Frame_Shift_Ins	INS	-	TCGA-23-1028-01A-01W-0484-10	8914640	38569218	42625992	41	9906											
KRT27	342574	hgsc.bcm.edu	37	17	38936007	38936008	+	Frame_Shift_Ins	INS	-	-	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr17:38936007_38936008insA	ENST00000301656.3	-	4	830_831	c.790_791insT	c.(790-792)tacfs	p.Y264fs	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27									p.Y264fs*29(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				GAGGGCTTCGTACTCAGCTCGC	0.629																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								36189534	SO:0001589	frameshift_variant	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.791dupT	17.37:g.38936008_38936008dupA	ENSP00000301656:p.Tyr264fs		36189533		Frame_Shift_Ins	INS	ENST00000301656.3	37	CCDS11375.1																																																																																				0.629	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		A	38936008	-	A	38936007	7	5	174	1	0	1	1	0	0	0	0	0	8464	1638	57	0	608	0	KRT27	17	38936007	Frame_Shift_Ins	INS	-	TCGA-23-1028-01A-01W-0484-10	366789	38936007	42259203	42	9907											
TOB1	10140	hgsc.bcm.edu	37	17	48941049	48941050	+	Frame_Shift_Ins	INS	-	-	A			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr17:48941049_48941050insA	ENST00000268957.3	-	3	757_758	c.329_330insT	c.(328-330)aagfs	p.K110fs	TOB1-AS1_ENST00000416263.3_RNA|TOB1_ENST00000499247.2_Frame_Shift_Ins_p.K110fs|TOB1_ENST00000509385.1_5'UTR	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	110					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)	p.K110fs*7(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGTAAAGCACCTTCACTGGTCC	0.421											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(144;643 1919 24513 29423 40686)											1	Insertion - Frameshift(1)	ovary(1)	17																																								46296049	SO:0001589	frameshift_variant	10140			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.329_330insT	17.37:g.48941049_48941050insA	ENSP00000268957:p.Lys110fs	958	46296048	B2R9T0|D3DTY3|Q4KMQ0	Frame_Shift_Ins	INS	ENST00000268957.3	37	CCDS11576.1																																																																																				0.421	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			A	48941050	-	A	48941049	7	5	174	1	0	1	1	0	0	0	0	0	16347	680	24	0	711	0	TOB1	17	48941049	Frame_Shift_Ins	INS	-	TCGA-23-1028-01A-01W-0484-10	10005042	48941049	32254161	43	9908											
PIGN	23556	hgsc.bcm.edu	37	18	59825034	59825034	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr18:59825034T>C	ENST00000357637.5	-	5	644	c.229A>G	c.(229-231)Ata>Gta	p.I77V	PIGN_ENST00000400334.3_Missense_Mutation_p.I77V	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	77					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.I77V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TCATGCATTATGATATTCCTA	0.373																																																1	Substitution - Missense(1)	ovary(1)	18											49	47	48					18																	59825034		1902	4138	6040	57976014	SO:0001583	missense	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.229A>G	18.37:g.59825034T>C	ENSP00000350263:p.Ile77Val		57976014	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191557	0.38707	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.30182	1.54;1.54	5.47	5.47	0.80525	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.185601	0.48286	D	0.000189	T	0.27349	0.0671	L	0.31578	0.945	0.49798	D	0.99982	B;P	0.37158	0.338;0.585	B;B	0.42319	0.277;0.383	T	0.04621	-1.0938	9	.	.	.	-14.8642	12.6005	0.56494	0.0:0.0:0.1475:0.8525	.	77;77	B2RCI8;O95427	.;PIGN_HUMAN	V	77	ENSP00000350263:I77V;ENSP00000383188:I77V	.	I	-	1	0	PIGN	57976014	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.273000	0.58914	2.199000	0.70637	0.533000	0.62120	ATA		0.373	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		C	59825034	T	C	59825034	3	2	174	1	0	0	0	0	1	0	0	0	11893	1464	51	4	2674	4	PIGN	18	59825034	Missense_Mutation	SNP	T	TCGA-23-1028-01A-01W-0484-10		59825034	18252214	44	9909											
PRTN3	5657	hgsc.bcm.edu	37	19	847909	847909	+	Silent	SNP	C	C	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr19:847909C>T	ENST00000234347.5	+	5	757	c.711C>T	c.(709-711)gcC>gcT	p.A237A	PRTN3_ENST00000544537.2_Silent_p.A196A	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	237	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A237A(1)		lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGGTAGCCCTCTACGTGG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	19											70	53	59					19																	847909		2202	4300	6502	798909	SO:0001819	synonymous_variant	5657				CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"myeloblastin", "serine proteinase, neutrophil", "Wegener granulomatosis autoantigen"	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.711C>T	19.37:g.847909C>T			798909	P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Silent	SNP	ENST00000234347.5	37	CCDS32860.1																																																																																				0.652	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457888.2	NM_002777		T	847909	C	T	847909	2	4	174	1	0	0	0	0	0	0	0	1	12642	610	22	2		2	PRTN3	19	847909	Silent	SNP	C	TCGA-23-1028-01A-01W-0484-10		847909	58281074	45	9910											
COMP	1311	hgsc.bcm.edu	37	19	18896323	18896324	+	Frame_Shift_Ins	INS	-	-	GA	rs577011338		TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr19:18896323_18896324insGA	ENST00000222271.2	-	15	1745_1746	c.1701_1702insTC	c.(1699-1704)gacccafs	p.P568fs	COMP_ENST00000425807.1_Frame_Shift_Ins_p.P515fs|COMP_ENST00000542601.2_Frame_Shift_Ins_p.P535fs	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	568	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.P568fs*22(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCCAGGCCTGGGTCGCTGTTCA	0.649																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								18757324	SO:0001589	frameshift_variant	1311			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1701_1702insTC	19.37:g.18896323_18896324insGA	ENSP00000222271:p.Pro568fs		18757323	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Frame_Shift_Ins	INS	ENST00000222271.2	37	CCDS12385.1																																																																																				0.649	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		GA	18896324	-	GA	18896323	7	5	174	1	0	1	1	0	0	0	0	0	3724	1232	43	0	591	0	COMP	19	18896323	Frame_Shift_Ins	INS	-	TCGA-23-1028-01A-01W-0484-10	18048414	18896323	40232660	46	9911											
MAP3K10	4294	hgsc.bcm.edu	37	19	40720904	40720904	+	Missense_Mutation	SNP	G	G	A	rs368709344		TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chr19:40720904G>A	ENST00000253055.3	+	10	2858	c.2570G>A	c.(2569-2571)cGc>cAc	p.R857H		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	857					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.R857H(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GACTTCCCCCGCCTGCCCGAC	0.677																																																1	Substitution - Missense(1)	ovary(1)	19						G	HIS/ARG	1,4363		0,1,2181	20	19	20		2570	3.5	1	19		20	0,8512		0,0,4256	no	missense	MAP3K10	NM_002446.3	29	0,1,6437	AA,AG,GG		0.0,0.0229,0.0078	benign	857/955	40720904	1,12875	2182	4256	6438	45412744	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2570G>A	19.37:g.40720904G>A	ENSP00000253055:p.Arg857His		45412744	Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.272036	0.40194	2.29E-4	0.0	ENSG00000130758	ENST00000253055	T	0.78364	-1.17	4.5	3.46	0.39613	.	0.113352	0.64402	N	0.000009	T	0.69984	0.3172	L	0.52573	1.65	0.44890	D	0.9979	B	0.14438	0.01	B	0.08055	0.003	T	0.66548	-0.5896	10	0.45353	T	0.12	.	10.269	0.43473	0.0975:0.0:0.9025:0.0	.	857	Q02779	M3K10_HUMAN	H	857	ENSP00000253055:R857H	ENSP00000253055:R857H	R	+	2	0	MAP3K10	45412744	1.000000	0.71417	0.999000	0.59377	0.550000	0.35303	5.602000	0.67612	1.117000	0.41842	0.511000	0.50034	CGC		0.677	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		A	40720904	G	A	40720904	3	1	174	1	0	0	0	0	1	0	0	0	9244	1087	38	1	2608	1	MAP3K10	19	40720904	Missense_Mutation	SNP	G	TCGA-23-1028-01A-01W-0484-10	21824581	40720904	18408079	47	9912											
L1CAM	3897	hgsc.bcm.edu	37	X	153130576	153130576	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1028-01A-01W-0484-10	TCGA-23-1028-10B-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	9ec6775e-5110-4a80-bae9-bc9833d88a84	9b11f1f4-ce72-4f8c-8d42-cd40fea4f013	g.chrX:153130576C>T	ENST00000370060.1	-	22	3028	c.2839G>A	c.(2839-2841)Gtg>Atg	p.V947M	L1CAM_ENST00000370057.3_Missense_Mutation_p.V947M|L1CAM_ENST00000538883.1_Missense_Mutation_p.V949M|L1CAM_ENST00000361981.3_Missense_Mutation_p.V942M|L1CAM_ENST00000543994.1_Missense_Mutation_p.V949M|L1CAM_ENST00000361699.4_Missense_Mutation_p.V947M|L1CAM_ENST00000370055.1_Missense_Mutation_p.V942M	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	947	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		Missing (in HSAS). {ECO:0000269|PubMed:9195224}.		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.V947M(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)					CCGGTGAGCACGCCGTTGTGG	0.716																																																1	Substitution - Missense(1)	ovary(1)	X											24	23	23					X																	153130576		2200	4295	6495	152783770	SO:0001583	missense	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.2839G>A	X.37:g.153130576C>T	ENSP00000359077:p.Val947Met		152783770	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396302	0.42512	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.16	4.28	0.50868	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.281403	0.24786	N	0.035610	T	0.63896	0.2550	M	0.85197	2.74	0.09310	N	1	D;P;D	0.56968	0.972;0.912;0.978	P;B;P	0.54460	0.638;0.34;0.753	T	0.60372	-0.7276	10	0.49607	T	0.09	.	6.2199	0.20675	0.0:0.7877:0.0:0.2123	.	942;947;947	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	M	947;949;947;949;942;942;947	ENSP00000359077:V947M;ENSP00000438430:V949M;ENSP00000359074:V947M;ENSP00000439645:V949M;ENSP00000354712:V942M;ENSP00000359072:V942M;ENSP00000355380:V947M	ENSP00000355380:V947M	V	-	1	0	L1CAM	152783770	0.689000	0.27690	0.979000	0.43373	0.455000	0.32408	1.090000	0.30902	2.143000	0.66587	0.523000	0.50628	GTG		0.716	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		T	153130576	C	T	153130576	3	4	174	1	0	0	0	0	1	0	0	0	8588	536	19	1	966	1	L1CAM	23	153130576	Missense_Mutation	SNP	C	TCGA-23-1028-01A-01W-0484-10		153130576	2139984	48	9913											
NADK	65220	genome.wustl.edu	37	1	1684347	1684348	+	In_Frame_Ins	INS	-	-	CCT	rs139135464|rs71578334|rs150880809		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:1684347_1684348insCCT	ENST00000341426.5	-	12	1557_1558	c.1336_1337insAGG	c.(1336-1338)ggc>gAGGgc	p.445_446insE	NADK_ENST00000341991.3_In_Frame_Ins_p.445_446insE|NADK_ENST00000342348.5_In_Frame_Ins_p.413_414insE|NADK_ENST00000378625.1_In_Frame_Ins_p.590_591insE|NADK_ENST00000344463.4_In_Frame_Ins_p.590_591insE	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	445	Poly-Glu.			E -> EE (in Ref. 2; BAB14412). {ECO:0000305}.|G -> EG (in Ref. 3; BAH12420). {ECO:0000305}.	ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTTGACCTAGCcctcctcctcc	0.629																																																0			1																																								1674208	SO:0001652	inframe_insertion	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1334_1336dupAGG	1.37:g.1684354_1684356dupCCT	ENSP00000341679:p.Glu445_Glu445dup		1674207	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	In_Frame_Ins	INS	ENST00000341426.5	37	CCDS30565.1																																																																																				0.629	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		CCT	1684348	-	CCT	1684347	7	5	175	1	0	1	1	0	0	0	0	0	10137	739	26	0	7	0	NADK	1	1684347	In_Frame_Ins	INS	-	TCGA-23-1029-01B-01W-0639-09		1684347	247566274	1	9914											
LPHN2	23266	genome.wustl.edu	37	1	82436208	82436208	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:82436208A>G	ENST00000370728.1	+	18	3577	c.2932A>G	c.(2932-2934)Aca>Gca	p.T978A	LPHN2_ENST00000370723.1_Missense_Mutation_p.T965A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T978A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T978A|LPHN2_ENST00000335786.5_Missense_Mutation_p.T978A|LPHN2_ENST00000370717.2_Missense_Mutation_p.T978A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T965A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T903A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T965A|LPHN2_ENST00000370713.1_Missense_Mutation_p.T965A|LPHN2_ENST00000370727.1_Missense_Mutation_p.T978A|LPHN2_ENST00000370725.1_Missense_Mutation_p.T978A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T965A|LPHN2_ENST00000370715.1_Missense_Mutation_p.T965A|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	978					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GAGCTATGGAACAGAAAAAGC	0.373																																																0			1											83	83	83					1																	82436208		2203	4300	6503	82208796	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2932A>G	1.37:g.82436208A>G	ENSP00000359763:p.Thr978Ala		82208796	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	A	14.49	2.550227	0.45383	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.83	5.83	0.93111	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	M	0.75264	2.295	0.58432	D	0.999998	B;B;B;B	0.11235	0.002;0.001;0.001;0.004	B;B;B;B	0.16289	0.015;0.011;0.005;0.009	T	0.23119	-1.0197	10	0.72032	D	0.01	.	11.2595	0.49074	0.9291:0.0:0.0709:0.0	.	978;965;965;965	O95490;O95490-3;O95490-4;O95490-2	LPHN2_HUMAN;.;.;.	A	903;978;978;978;978;965;965;965;965;965;978;965;978;978	ENSP00000359756:T903A;ENSP00000359763:T978A;ENSP00000359765:T978A;ENSP00000359762:T978A;ENSP00000359760:T978A;ENSP00000359758:T965A;ENSP00000353006:T965A;ENSP00000359750:T965A;ENSP00000359748:T965A;ENSP00000322270:T965A;ENSP00000359752:T978A;ENSP00000378344:T965A;ENSP00000271029:T978A;ENSP00000337306:T978A	ENSP00000271029:T978A	T	+	1	0	LPHN2	82208796	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.538000	0.82048	2.229000	0.72834	0.533000	0.62120	ACA		0.373	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		G	82436208	A	G	82436208	3	3	175	1	0	0	0	0	1	0	0	0	8916	43	2	4	2943	4	LPHN2	1	82436208	Missense_Mutation	SNP	A	TCGA-23-1029-01B-01W-0639-09	80751861	82436208	166814413	2	9915											
ADAM30	11085	genome.wustl.edu	37	1	120438205	120438205	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:120438205G>A	ENST00000369400.1	-	1	913	c.755C>T	c.(754-756)gCt>gTt	p.A252V		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	252	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TACTTCAAGAGCCTTTAAGTG	0.338																																																0			1											87	91	90					1																	120438205		2203	4300	6503	120239728	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.755C>T	1.37:g.120438205G>A	ENSP00000358407:p.Ala252Val		120239728	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403588	0.42613	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10860	2.83	4.67	-0.778	0.10977	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.299086	0.23459	N	0.047947	T	0.09335	0.0230	M	0.68593	2.085	0.09310	N	1	P	0.38745	0.645	P	0.50537	0.643	T	0.10847	-1.0612	10	0.87932	D	0	.	9.7374	0.40397	0.0858:0.5645:0.3497:0.0	.	252	Q9UKF2	ADA30_HUMAN	V	252	ENSP00000358407:A252V	ENSP00000358407:A252V	A	-	2	0	ADAM30	120239728	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.318000	0.02705	-0.323000	0.08602	0.563000	0.77884	GCT		0.338	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		A	120438205	G	A	120438205	3	1	175	1	0	0	0	0	1	0	0	0	248	971	34	2	1621	2	ADAM30	1	120438205	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	38001997	120438205	128812416	3	9916											
SETDB1	9869	genome.wustl.edu	37	1	150915106	150915106	+	Silent	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:150915106G>C	ENST00000271640.5	+	6	805	c.615G>C	c.(613-615)ctG>ctC	p.L205L	SETDB1_ENST00000368969.4_Silent_p.L205L|SETDB1_ENST00000368962.2_Silent_p.L205L|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Silent_p.L205L	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	205					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCGAATTCTGGGCAAGAAGA	0.448																																																0			1											118	113	115					1																	150915106		2203	4300	6503	149181730	SO:0001819	synonymous_variant	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.615G>C	1.37:g.150915106G>C			149181730	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	CCDS44217.1																																																																																				0.448	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			C	150915106	G	C	150915106	2	2	175	1	0	0	0	0	0	0	0	1	14141	1335	47	3		3	SETDB1	1	150915106	Silent	SNP	G	TCGA-23-1029-01B-01W-0639-09	30476901	150915106	98335515	4	9917											
PRUNE	58497	genome.wustl.edu	37	1	151001309	151001309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:151001309C>A	ENST00000271620.3	+	7	978	c.822C>A	c.(820-822)tgC>tgA	p.C274*	PRUNE_ENST00000368934.1_Intron|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368936.1_Nonsense_Mutation_p.C92*|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368937.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	274						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGCTTTCTGCCAGGCTCACA	0.483																																																0			1											181	152	162					1																	151001309		2203	4300	6503	149267933	SO:0001587	stop_gained	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"prune homolog (Drosophila)"			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.822C>A	1.37:g.151001309C>A	ENSP00000271620:p.Cys274*		149267933	B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Nonsense_Mutation	SNP	ENST00000271620.3	37	CCDS977.1	.	.	.	.	.	.	.	.	.	.	C	38	7.060543	0.98036	.	.	ENSG00000143363	ENST00000450884;ENST00000271620;ENST00000302413;ENST00000368936	.	.	.	5.12	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9844	11.7433	0.51804	0.0:0.9123:0.0:0.0877	.	.	.	.	X	92;274;207;92	.	ENSP00000271620:C274X	C	+	3	2	PRUNE	149267933	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.097000	0.50251	2.661000	0.90470	0.603000	0.83216	TGC		0.483	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		A	151001309	C	A	151001309	4	1	175	1	0	0	0	0	0	1	0	0	12643	747	26	3	848	3	PRUNE	1	151001309	Nonsense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	86203	151001309	98249312	5	9918											
APCS	325	genome.wustl.edu	37	1	159558366	159558366	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:159558366C>G	ENST00000255040.2	+	2	637	c.540C>G	c.(538-540)gaC>gaG	p.D180E		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	180	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATGTGGGACTCTGTGCTGC	0.522																																																0			1											129	132	131					1																	159558366		2203	4300	6503	157824990	SO:0001583	missense	325				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.540C>G	1.37:g.159558366C>G	ENSP00000255040:p.Asp180Glu		157824990		Missense_Mutation	SNP	ENST00000255040.2	37	CCDS1186.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628720	0.46944	.	.	ENSG00000132703	ENST00000255040	T	0.66815	-0.23	4.24	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.049536	0.85682	D	0.000000	T	0.63010	0.2475	M	0.89353	3.025	0.39816	D	0.972774	P	0.44627	0.839	P	0.47827	0.558	T	0.67891	-0.5553	10	0.87932	D	0	-17.7821	4.8095	0.13337	0.0:0.5953:0.0:0.4047	.	180	P02743	SAMP_HUMAN	E	180	ENSP00000255040:D180E	ENSP00000255040:D180E	D	+	3	2	APCS	157824990	0.003000	0.15002	0.924000	0.36721	0.483000	0.33249	-0.096000	0.11059	1.029000	0.39812	0.650000	0.86243	GAC		0.522	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		G	159558366	C	G	159558366	3	3	175	1	0	0	0	0	1	0	0	0	767	564	20	3	546	3	APCS	1	159558366	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	8557057	159558366	89692255	6	9919											
CFH	3075	genome.wustl.edu	37	1	196716245	196716245	+	Silent	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:196716245G>A	ENST00000367429.4	+	22	3738	c.3498G>A	c.(3496-3498)ccG>ccA	p.P1166P		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1166					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTCAGATCCGTGTGTAATAT	0.323																																																0			1											78	78	78					1																	196716245		2203	4296	6499	194982868	SO:0001819	synonymous_variant	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3498G>A	1.37:g.196716245G>A			194982868	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	CCDS1385.1																																																																																				0.323	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		A	196716245	G	A	196716245	2	1	175	1	0	0	0	0	0	0	0	1	3283	1132	40	1		1	CFH	1	196716245	Silent	SNP	G	TCGA-23-1029-01B-01W-0639-09	37157879	196716245	52534376	7	9920											
CAPN13	92291	genome.wustl.edu	37	2	30987079	30987079	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:30987079G>T	ENST00000295055.8	-	6	794	c.618C>A	c.(616-618)caC>caA	p.H206Q	CAPN13_ENST00000534090.2_Missense_Mutation_p.H206Q|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	206	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAGGGGAAGAGTGCAGATGGA	0.592																																																0			2											68	70	69					2																	30987079		2111	4230	6341	30840583	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.618C>A	2.37:g.30987079G>T	ENSP00000295055:p.His206Gln		30840583	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271577	0.23221	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.86769	-2.17;-2.17	5.44	0.526	0.17078	Peptidase C2, calpain, catalytic domain (3);	0.994734	0.08173	N	0.986702	T	0.75932	0.3917	N	0.20483	0.58	0.09310	N	1	B	0.20887	0.049	B	0.18263	0.021	T	0.63730	-0.6571	10	0.45353	T	0.12	.	5.6708	0.17721	0.2752:0.3085:0.4163:0.0	.	206	Q6MZZ7	CAN13_HUMAN	Q	206	ENSP00000295055:H206Q;ENSP00000431298:H206Q	ENSP00000295055:H206Q	H	-	3	2	CAPN13	30840583	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	0.047000	0.14056	0.666000	0.31087	0.462000	0.41574	CAC		0.592	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		T	30987079	G	T	30987079	3	4	175	1	0	0	0	0	1	0	0	0	2626	1020	36	3	1459	3	CAPN13	2	30987079	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09		30987079	212212294	8	9921											
PLEKHH2	130271	genome.wustl.edu	37	2	43969963	43969963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:43969963C>A	ENST00000282406.4	+	22	3415	c.3305C>A	c.(3304-3306)tCa>tAa	p.S1102*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1102	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCAAGACCCTCAAGGATGGAA	0.403																																																0			2											170	148	155					2																	43969963		2203	4300	6503	43823467	SO:0001587	stop_gained	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3305C>A	2.37:g.43969963C>A	ENSP00000282406:p.Ser1102*		43823467	Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	43	10.270048	0.99372	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3014	19.1716	0.93580	0.0:1.0:0.0:0.0	.	.	.	.	X	1102	.	ENSP00000282406:S1102X	S	+	2	0	PLEKHH2	43823467	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.487000	0.81328	2.516000	0.84829	0.563000	0.77884	TCA		0.403	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		A	43969963	C	A	43969963	4	1	175	1	0	0	0	0	0	1	0	0	12077	838	29	3	3387	3	PLEKHH2	2	43969963	Nonsense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	12982884	43969963	199229410	9	9922											
ABCG8	64241	genome.wustl.edu	37	2	44071693	44071693	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:44071693C>T	ENST00000272286.2	+	2	201	c.111C>T	c.(109-111)taC>taT	p.Y37Y		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	37					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ACAGCCTGTACTTCACCTACA	0.562																																																0			2											68	57	60					2																	44071693		2203	4300	6503	43925197	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.111C>T	2.37:g.44071693C>T			43925197	Q53QN8	Silent	SNP	ENST00000272286.2	37	CCDS1815.1																																																																																				0.562	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		T	44071693	C	T	44071693	2	4	175	1	0	0	0	0	0	0	0	1	72	576	20	2		2	ABCG8	2	44071693	Silent	SNP	C	TCGA-23-1029-01B-01W-0639-09	101730	44071693	199127680	10	9923											
UBR3	130507	genome.wustl.edu	37	2	170857850	170857850	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:170857850G>A	ENST00000272793.5	+	27	4005	c.3955G>A	c.(3955-3957)Gga>Aga	p.G1319R	UBR3_ENST00000418381.1_Missense_Mutation_p.G1319R|UBR3_ENST00000392631.1_Missense_Mutation_p.G140R			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1319					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGGCTGGGAAGGAGGTGTTTA	0.289																																																0			2											132	127	129					2																	170857850		2203	4300	6503	170566096	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3955G>A	2.37:g.170857850G>A	ENSP00000272793:p.Gly1319Arg		170566096	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	g	26.2	4.713773	0.89112	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631	T;T;T	0.48201	0.82;0.82;0.84	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.64567	1.98	0.52501	D	0.999958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.60727	-0.7206	10	0.24483	T	0.36	.	18.7896	0.91968	0.0:0.0:1.0:0.0	.	1319;140;1319	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	R	1319;1319;1319;140	ENSP00000272793:G1319R;ENSP00000396068:G1319R;ENSP00000376408:G140R	ENSP00000272793:G1319R	G	+	1	0	UBR3	170566096	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.417000	0.97391	2.518000	0.84900	0.298000	0.19748	GGA		0.289	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		A	170857850	G	A	170857850	3	1	175	1	0	0	0	0	1	0	0	0	16903	1001	35	2	4061	2	UBR3	2	170857850	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	126786157	170857850	72341523	11	9924											
NCKAP1	10787	genome.wustl.edu	37	2	183860498	183860498	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:183860498C>G	ENST00000361354.4	-	7	1044	c.672G>C	c.(670-672)tgG>tgC	p.W224C	NCKAP1_ENST00000360982.2_Missense_Mutation_p.W230C	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	224					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGGCATTTCTCCACTGGTCAG	0.373																																																0			2											117	119	118					2																	183860498		2203	4300	6503	183568743	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.672G>C	2.37:g.183860498C>G	ENSP00000355348:p.Trp224Cys		183568743	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729511	0.89390	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.37058	1.22;1.22	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	T	0.72265	-0.4344	10	0.87932	D	0	-4.9767	20.1438	0.98071	0.0:1.0:0.0:0.0	.	224;230	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	C	224;230	ENSP00000355348:W224C;ENSP00000354251:W230C	ENSP00000354251:W230C	W	-	3	0	NCKAP1	183568743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.768000	0.95171	0.650000	0.86243	TGG		0.373	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		G	183860498	C	G	183860498	3	3	175	1	0	0	0	0	1	0	0	0	10221	856	30	3	2814	3	NCKAP1	2	183860498	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	13002648	183860498	59338875	12	9925											
PLCL1	5334	genome.wustl.edu	37	2	198950443	198950443	+	Silent	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:198950443A>G	ENST00000428675.1	+	2	2600	c.2202A>G	c.(2200-2202)ccA>ccG	p.P734P	PLCL1_ENST00000437704.2_Silent_p.P636P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	734	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGAATTTCCCAAAGCCCAAGG	0.438																																																0			2											66	67	67					2																	198950443		2203	4300	6503	198658688	SO:0001819	synonymous_variant	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2202A>G	2.37:g.198950443A>G			198658688	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	CCDS2326.2																																																																																				0.438	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		G	198950443	A	G	198950443	2	3	175	1	0	0	0	0	0	0	0	1	12039	117	5	4		4	PLCL1	2	198950443	Silent	SNP	A	TCGA-23-1029-01B-01W-0639-09	15089945	198950443	44248930	13	9926											
PIKFYVE	200576	genome.wustl.edu	37	2	209188915	209188915	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:209188915C>A	ENST00000264380.4	+	18	2398	c.2240C>A	c.(2239-2241)cCc>cAc	p.P747H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	747					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATGTTCGACCCACCTTGGTT	0.383																																																0			2											179	169	172					2																	209188915		2203	4300	6503	208897160	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2240C>A	2.37:g.209188915C>A	ENSP00000264380:p.Pro747His		208897160	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010947	0.93346	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.78364	-1.17;-1.17	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	D	0.90920	0.7146	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.92211	0.5776	10	0.87932	D	0	-13.6809	18.4332	0.90634	0.0:1.0:0.0:0.0	.	747;691	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	H	747;323;691	ENSP00000264380:P747H;ENSP00000405736:P691H	ENSP00000264380:P747H	P	+	2	0	PIKFYVE	208897160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.788000	0.95919	0.557000	0.71058	CCC		0.383	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		A	209188915	C	A	209188915	3	1	175	1	0	0	0	0	1	0	0	0	11924	623	22	3	2317	3	PIKFYVE	2	209188915	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	10238472	209188915	34010458	14	9927											
CPNE9	151835	genome.wustl.edu	37	3	9767733	9767761	+	Splice_Site	DEL	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA	-	rs574537034|rs555885422|rs376465868		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:9767733_9767761delAGCGTGAGTCTGAGGAGGAGGGCTTGGCA	ENST00000383832.3	+	18	1532_1534	c.1342_1344delAGCGTGAGTCTGAGGAGGAGGGCTTGGCA	c.(1342-1344)agcdel	p.S448fs	CPNE9_ENST00000383831.3_Splice_Site_p.S448fs	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	448	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GGCCATCGTCAGCGTGAGTCTGAGGAGGAGGGCTTGGCAGGGAGGAGTA	0.515																																																0			3																																								9742761	SO:0001630	splice_region_variant	151835				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1344+1AGCGTGAGTCTGAGGAGGAGGGCTTGGCA>-	3.37:g.9767733_9767761delAGCGTGAGTCTGAGGAGGAGGGCTTGGCA			9742733	A1L430|A6NDX6|A8MSP8	In_Frame_Del	DEL	ENST00000383832.3	37	CCDS2574.2																																																																																				0.515	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755	Frame_Shift_Del	-	9767761	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA	-	9767733	8	5	175	1	0	1	0	1	0	0	1	0	3819	188	7	0	1408	0	CPNE9	3	9767733	Splice_Site	DEL	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA	TCGA-23-1029-01B-01W-0639-09		9767733	188254697	15	9928											
KBTBD5	131377	genome.wustl.edu	37	3	42727774	42727774	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:42727774G>A	ENST00000287777.4	+	1	764	c.664G>A	c.(664-666)Gag>Aag	p.E222K		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	222	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CACCGTCTTCGAGAGCGTGCG	0.716																																																0			3											12	12	12					3																	42727774		2171	4249	6420	42702778	SO:0001583	missense	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.664G>A	3.37:g.42727774G>A	ENSP00000287777:p.Glu222Lys		42702778	Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230177	0.58777	.	.	ENSG00000157119	ENST00000287777	T	0.68479	-0.33	4.56	3.68	0.42216	BTB/Kelch-associated (2);	0.164086	0.53938	N	0.000060	T	0.59542	0.2201	L	0.41961	1.31	0.45272	D	0.998278	B	0.30021	0.265	B	0.33750	0.169	T	0.58825	-0.7568	10	0.41790	T	0.15	.	12.5689	0.56326	0.0808:0.0:0.9192:0.0	.	222	Q2TBA0	KBTB5_HUMAN	K	222	ENSP00000287777:E222K	ENSP00000287777:E222K	E	+	1	0	KBTBD5	42702778	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.308000	0.59129	1.154000	0.42482	0.655000	0.94253	GAG		0.716	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		A	42727774	G	A	42727774	3	1	175	1	0	0	0	0	1	0	0	0	7996	1059	37	1	666	1	KBTBD5	3	42727774	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	32960041	42727774	155294656	16	9929											
MST1R	4486	genome.wustl.edu	37	3	49935018	49935019	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	TA	TA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:49935018_49935019delTA	ENST00000296474.3	-	6	2007_2008	c.1980_1981delTA	c.(1978-1983)actaacfs	p.N661fs	MST1R_ENST00000344206.4_Frame_Shift_Del_p.N661fs|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	661	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGTGGCATGTTAGTCACGGTGA	0.599																																																0			3																																								49910023	SO:0001589	frameshift_variant	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1980_1981delTA	3.37:g.49935018_49935019delTA	ENSP00000296474:p.Asn661fs		49910022	B5A944|B5A945|B5A946|B5A947	Frame_Shift_Del	DEL	ENST00000296474.3	37	CCDS2807.1																																																																																				0.599	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			-	49935019	TA	-	49935018	7	5	175	1	0	1	0	1	0	0	0	0	9891	1754	61	0	2281	0	MST1R	3	49935018	Frame_Shift_Del	DEL	TA	TCGA-23-1029-01B-01W-0639-09	7207244	49935018	148087412	17	9930											
PHLDB2	90102	genome.wustl.edu	37	3	111604069	111604069	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:111604069A>G	ENST00000431670.2	+	2	1556	c.1145A>G	c.(1144-1146)aAc>aGc	p.N382S	PHLDB2_ENST00000412622.1_Missense_Mutation_p.N382S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.N409S|PHLDB2_ENST00000478922.1_Missense_Mutation_p.N382S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.N382S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.N382S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.N382S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	382						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACCAGGAGGAACTTCTCTTGT	0.512																																																0			3											85	85	85					3																	111604069		2203	4300	6503	113086759	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1145A>G	3.37:g.111604069A>G	ENSP00000405405:p.Asn382Ser		113086759	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913584	0.52439	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.28666	1.6;1.6;1.61;1.62;1.6;1.61	5.78	5.78	0.91487	.	0.446886	0.26808	N	0.022382	T	0.20210	0.0486	N	0.11064	0.09	0.34877	D	0.744209	B;P;P;B;B	0.52316	0.156;0.873;0.952;0.417;0.417	B;B;P;B;B	0.47626	0.039;0.291;0.552;0.085;0.124	T	0.08638	-1.0712	10	0.07482	T	0.82	.	13.9178	0.63911	1.0:0.0:0.0:0.0	.	382;382;382;382;409	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	S	409;409;382;382;382;382;382;382;382	ENSP00000377500:N409S;ENSP00000405405:N382S;ENSP00000405292:N382S;ENSP00000418296:N382S;ENSP00000377502:N382S;ENSP00000418319:N382S	ENSP00000352764:N409S	N	+	2	0	PHLDB2	113086759	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.485000	0.60279	2.333000	0.79357	0.533000	0.62120	AAC		0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		G	111604069	A	G	111604069	3	3	175	1	0	0	0	0	1	0	0	0	11852	43	2	4	1232	4	PHLDB2	3	111604069	Missense_Mutation	SNP	A	TCGA-23-1029-01B-01W-0639-09	61669051	111604069	86418361	18	9931											
GPR149	344758	genome.wustl.edu	37	3	154138981	154138981	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:154138981A>T	ENST00000389740.2	-	3	1569	c.1470T>A	c.(1468-1470)gaT>gaA	p.D490E		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	490					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAGAAAACGCATCCTTTTTGT	0.423																																																0			3											287	269	275					3																	154138981		1906	4118	6024	155621675	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1470T>A	3.37:g.154138981A>T	ENSP00000374390:p.Asp490Glu		155621675		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	1.852	-0.464692	0.04476	.	.	ENSG00000174948	ENST00000389740	.	.	.	4.88	-0.809	0.10864	.	1.008970	0.07930	N	0.977276	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25082	-1.0142	9	0.72032	D	0.01	0.7639	5.5365	0.17013	0.391:0.1432:0.4658:0.0	.	490	Q86SP6	GP149_HUMAN	E	490	.	ENSP00000374390:D490E	D	-	3	2	GPR149	155621675	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.238000	0.18004	-0.401000	0.07644	0.372000	0.22366	GAT		0.423	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		T	154138981	A	T	154138981	3	4	175	1	0	0	0	0	1	0	0	0	6654	214	8	5	733	5	GPR149	3	154138981	Missense_Mutation	SNP	A	TCGA-23-1029-01B-01W-0639-09	42534912	154138981	43883449	19	9932											
PEX5L	51555	genome.wustl.edu	37	3	179593160	179593160	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:179593160C>T	ENST00000467460.1	-	6	941	c.611G>A	c.(610-612)gGa>gAa	p.G204E	PEX5L_ENST00000263962.8_Missense_Mutation_p.G202E|PEX5L_ENST00000467440.2_5'UTR|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000468741.1_Missense_Mutation_p.G12E|PEX5L_ENST00000392649.3_Missense_Mutation_p.G96E|PEX5L_ENST00000476138.1_Missense_Mutation_p.G161E|PEX5L_ENST00000485199.1_Missense_Mutation_p.G169E|PEX5L_ENST00000472994.1_Missense_Mutation_p.G145E|PEX5L_ENST00000464614.1_Missense_Mutation_p.G96E|PEX5L_ENST00000465751.1_Missense_Mutation_p.G180E	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	204					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTCTTTTGATCCAGTTCTAGA	0.378																																																0			3											199	176	184					3																	179593160		2203	4300	6503	181075854	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.611G>A	3.37:g.179593160C>T	ENSP00000419975:p.Gly204Glu		181075854	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579567	0.28180	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640;ENST00000469198	D;D;D;D;D;D;D;D;D	0.87103	-2.18;-2.19;-2.16;-2.19;-2.21;-2.16;-2.16;-2.19;-2.16	5.88	5.88	0.94601	.	0.276343	0.35772	N	0.002985	T	0.75110	0.3805	N	0.08118	0	0.36850	D	0.887831	B;B;B;B;B;B	0.27416	0.049;0.02;0.063;0.178;0.137;0.085	B;B;B;B;B;B	0.28011	0.026;0.018;0.016;0.085;0.058;0.026	T	0.76686	-0.2868	10	0.66056	D	0.02	-22.1714	10.5477	0.45070	0.1261:0.6948:0.179:0.0	.	145;180;96;202;169;204	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	E	204;202;169;202;96;12;161;92;145;96;180;12;12;193	ENSP00000419975:G204E;ENSP00000263962:G202E;ENSP00000418440:G169E;ENSP00000376420:G96E;ENSP00000418665:G12E;ENSP00000420555:G161E;ENSP00000418054:G145E;ENSP00000417270:G96E;ENSP00000419348:G180E	ENSP00000263962:G202E	G	-	2	0	PEX5L	181075854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.373000	0.44266	2.788000	0.95919	0.650000	0.86243	GGA		0.378	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		T	179593160	C	T	179593160	3	4	175	1	0	0	0	0	1	0	0	0	11749	855	30	2	1309	2	PEX5L	3	179593160	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	25454179	179593160	18429270	20	9933											
SRP72	6731	genome.wustl.edu	37	4	57354175	57354175	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr4:57354175G>A	ENST00000342756.5	+	12	1941	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D	SRP72_ENST00000510663.1_Missense_Mutation_p.G346D	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	407					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CATAAACCAGGCATGGTGAGT	0.279																																																0			4											57	60	59					4																	57354175		2193	4290	6483	57048932	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1220G>A	4.37:g.57354175G>A	ENSP00000342181:p.Gly407Asp		57048932	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467353	0.84533	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.37584	1.19;1.19	4.91	4.91	0.64330	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.995	D;P;P	0.77004	0.989;0.887;0.86	T	0.67248	-0.5718	10	0.51188	T	0.08	.	15.9856	0.80151	0.0:0.0:1.0:0.0	.	346;407;407	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	D	407;352;346;168	ENSP00000342181:G407D;ENSP00000424576:G346D	ENSP00000342181:G407D	G	+	2	0	SRP72	57048932	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.266000	0.89871	2.712000	0.92718	0.650000	0.86243	GGC		0.279	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			A	57354175	G	A	57354175	3	1	175	1	0	0	0	0	1	0	0	0	15159	1203	42	2	1266	2	SRP72	4	57354175	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09		57354175	133800101	21	9934											
HERC3	8916	genome.wustl.edu	37	4	89575201	89575201	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr4:89575201T>A	ENST00000402738.1	+	7	933	c.694T>A	c.(694-696)Tct>Act	p.S232T	HERC3_ENST00000264345.3_Missense_Mutation_p.S232T|HERC3_ENST00000407637.1_Missense_Mutation_p.S232T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	232					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AGATCGAGAATCTCCATGCCA	0.363																																																0			4											89	90	90					4																	89575201		2203	4300	6503	89794224	SO:0001583	missense	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.694T>A	4.37:g.89575201T>A	ENSP00000385684:p.Ser232Thr		89794224	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261082	0.39995	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	D;D;D	0.83837	-1.77;-1.77;-1.77	5.12	5.12	0.69794	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.200790	0.47093	D	0.000249	T	0.67646	0.2915	N	0.11818	0.18	0.80722	D	1	B;B	0.18461	0.009;0.028	B;B	0.18263	0.021;0.012	T	0.63010	-0.6732	10	0.22706	T	0.39	.	11.1389	0.48392	0.0:0.0:0.1541:0.8459	.	232;232	Q15034;Q8IXX3	HERC3_HUMAN;.	T	232	ENSP00000385684:S232T;ENSP00000384005:S232T;ENSP00000264345:S232T	ENSP00000264345:S232T	S	+	1	0	HERC3	89794224	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.139000	0.42149	2.152000	0.67230	0.533000	0.62120	TCT		0.363	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		A	89575201	T	A	89575201	3	1	175	1	0	0	0	0	1	0	0	0	7059	1435	50	5	712	5	HERC3	4	89575201	Missense_Mutation	SNP	T	TCGA-23-1029-01B-01W-0639-09	32221026	89575201	101579075	22	9935											
ADAD1	132612	genome.wustl.edu	37	4	123302167	123302167	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr4:123302167C>A	ENST00000296513.2	+	4	378	c.193C>A	c.(193-195)Ctt>Att	p.L65I	ADAD1_ENST00000388724.2_Missense_Mutation_p.L65I|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.L47I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	65					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGAGCCGTTGCTTTCCAAGAA	0.318																																																0			4											67	70	69					4																	123302167		2203	4300	6503	123521617	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.193C>A	4.37:g.123302167C>A	ENSP00000296513:p.Leu65Ile		123521617	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070494	0.20147	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.38077	1.16;1.17;1.19	5.23	1.59	0.23543	.	0.265860	0.21547	N	0.072795	T	0.26412	0.0645	L	0.32530	0.975	0.29358	N	0.864901	B;B	0.33103	0.348;0.397	B;B	0.38755	0.281;0.176	T	0.19745	-1.0296	10	0.21540	T	0.41	-9.5607	7.94	0.29952	0.0:0.5868:0.0:0.4132	.	65;65	Q96M93-2;Q96M93	.;ADAD1_HUMAN	I	65;65;65;65;47	ENSP00000296513:L65I;ENSP00000373376:L65I;ENSP00000373377:L47I	ENSP00000296513:L65I	L	+	1	0	ADAD1	123521617	0.010000	0.17322	0.970000	0.41538	0.133000	0.20885	-0.182000	0.09726	0.222000	0.20900	0.563000	0.77884	CTT		0.318	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		A	123302167	C	A	123302167	3	1	175	1	0	0	0	0	1	0	0	0	231	797	28	3	199	3	ADAD1	4	123302167	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	33726966	123302167	67852109	23	9936											
PCDH10	57575	genome.wustl.edu	37	4	134073742	134073742	+	Missense_Mutation	SNP	A	A	G	rs199658438		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr4:134073742A>G	ENST00000264360.5	+	1	3273	c.2447A>G	c.(2446-2448)aAc>aGc	p.N816S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	816					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACCACCACAACCAGAATTAC	0.577																																																0			4											79	69	73					4																	134073742		2203	4300	6503	134293192	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2447A>G	4.37:g.134073742A>G	ENSP00000264360:p.Asn816Ser		134293192	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	1.397	-0.579211	0.03854	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.50548	0.74	5.01	2.36	0.29203	.	0.133960	0.34067	N	0.004294	T	0.13756	0.0333	N	0.00677	-1.265	0.47153	D	0.999337	B;B	0.23540	0.087;0.001	B;B	0.17433	0.018;0.001	T	0.28839	-1.0031	10	0.05721	T	0.95	.	11.1991	0.48730	0.7084:0.2916:0.0:0.0	.	816;816	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	816	ENSP00000264360:N816S	ENSP00000264360:N816S	N	+	2	0	PCDH10	134293192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.793000	0.47845	0.736000	0.32559	0.459000	0.35465	AAC		0.577	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		G	134073742	A	G	134073742	3	3	175	1	0	0	0	0	1	0	0	0	11507	43	2	4	2449	4	PCDH10	4	134073742	Missense_Mutation	SNP	A	TCGA-23-1029-01B-01W-0639-09	10771575	134073742	57080534	24	9937											
CDH6	1004	genome.wustl.edu	37	5	31323027	31323027	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:31323027A>G	ENST00000265071.2	+	12	2250	c.1985A>G	c.(1984-1986)gAa>gGa	p.E662G		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	662					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACAACGACGAAGGTGGTGGA	0.488																																																0			5											87	84	85					5																	31323027		2203	4300	6503	31358784	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1985A>G	5.37:g.31323027A>G	ENSP00000265071:p.Glu662Gly		31358784	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795560	0.90453	.	.	ENSG00000113361	ENST00000265071	D	0.82344	-1.6	5.52	5.52	0.82312	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95515	0.8589	10	0.87932	D	0	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	662	P55285	CADH6_HUMAN	G	662	ENSP00000265071:E662G	ENSP00000265071:E662G	E	+	2	0	CDH6	31358784	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.201000	0.95017	2.222000	0.72286	0.533000	0.62120	GAA		0.488	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		G	31323027	A	G	31323027	3	3	175	1	0	0	0	0	1	0	0	0	3114	246	9	4	2027	4	CDH6	5	31323027	Missense_Mutation	SNP	A	TCGA-23-1029-01B-01W-0639-09		31323027	149592233	25	9938											
NUP155	9631	genome.wustl.edu	37	5	37299662	37299662	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:37299662C>T	ENST00000231498.3	-	31	3773	c.3570G>A	c.(3568-3570)ggG>ggA	p.G1190G	NUP155_ENST00000513532.1_Silent_p.G1126G|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Silent_p.G1131G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1190					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAAATTCCCCATAAAGCT	0.363																																																0			5											71	73	72					5																	37299662		2203	4300	6503	37335419	SO:0001819	synonymous_variant	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3570G>A	5.37:g.37299662C>T			37335419	Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	CCDS3921.1																																																																																				0.363	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		T	37299662	C	T	37299662	2	4	175	1	0	0	0	0	0	0	0	1	10756	610	22	2		2	NUP155	5	37299662	Silent	SNP	C	TCGA-23-1029-01B-01W-0639-09	5976635	37299662	143615598	26	9939											
GDNF	2668	genome.wustl.edu	37	5	37816140	37816140	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:37816140C>T	ENST00000326524.2	-	3	448	c.249G>A	c.(247-249)atG>atA	p.M83I	GDNF_ENST00000381826.4_Missense_Mutation_p.M74I|GDNF_ENST00000427982.1_Missense_Mutation_p.M100I|GDNF_ENST00000515058.1_Missense_Mutation_p.M57I|GDNF_ENST00000344622.4_Missense_Mutation_p.M57I	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	83					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GAAGCACTGCCATTTGTTTAT	0.483																																																0			5											84	89	87					5																	37816140		2203	4300	6503	37851897	SO:0001583	missense	2668				CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"Endogenous ligands"	4232	protein-coding gene	gene with protein product	"astrocyte-derived trophic factor", "glial cell line derived neurotrophic factor", "glial derived neurotrophic factor"	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.249G>A	5.37:g.37816140C>T	ENSP00000317145:p.Met83Ile		37851897	B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	7.375	0.627552	0.14257	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826;ENST00000502572;ENST00000510177	D;D;D;D;D;T;T	0.93019	-3.13;-3.15;-3.15;-3.13;-3.15;-0.99;-0.99	5.9	3.99	0.46301	.	0.475283	0.27331	N	0.019841	D	0.87406	0.6169	L	0.36672	1.1	0.23346	N	0.997861	B;B;B;B	0.10296	0.0;0.003;0.002;0.0	B;B;B;B	0.14578	0.001;0.008;0.011;0.0	T	0.73366	-0.4005	10	0.33141	T	0.24	-0.1946	7.5777	0.27946	0.2436:0.6729:0.0:0.0835	.	83;74;100;57	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	I	83;57;57;100;74;57;57	ENSP00000317145:M83I;ENSP00000339703:M57I;ENSP00000425928:M57I;ENSP00000409007:M100I;ENSP00000371248:M74I;ENSP00000423557:M57I;ENSP00000424592:M57I	ENSP00000317145:M83I	M	-	3	0	GDNF	37851897	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	0.315000	0.19451	2.806000	0.96561	0.655000	0.94253	ATG		0.483	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		T	37816140	C	T	37816140	3	4	175	1	0	0	0	0	1	0	0	0	6322	594	21	2	389	2	GDNF	5	37816140	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	516478	37816140	143099120	27	9940											
FGF10	2255	genome.wustl.edu	37	5	44305238	44305238	+	Silent	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:44305238A>G	ENST00000264664.4	-	3	600	c.486T>C	c.(484-486)aaT>aaC	p.N162N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	162					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					ATGCATAGGTATTGTATCCAT	0.383																																																0			5											243	212	223					5																	44305238		2203	4300	6503	44340995	SO:0001819	synonymous_variant	2255				CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.486T>C	5.37:g.44305238A>G			44340995	C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	ENST00000264664.4	37	CCDS3950.1																																																																																				0.383	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		G	44305238	A	G	44305238	2	3	175	1	0	0	0	0	0	0	0	1	5839	446	16	4		4	FGF10	5	44305238	Silent	SNP	A	TCGA-23-1029-01B-01W-0639-09	6489098	44305238	136610022	28	9941											
PCDHB2	56133	genome.wustl.edu	37	5	140476703	140476703	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:140476703G>T	ENST00000194155.4	+	1	2477	c.2329G>T	c.(2329-2331)Gtt>Ttt	p.V777F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	777					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAACTTCGTTGCTCAGGG	0.507																																																0			5											89	92	91					5																	140476703		2203	4297	6500	140456887	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2329G>T	5.37:g.140476703G>T	ENSP00000194155:p.Val777Phe		140456887	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.284377	0.01398	.	.	ENSG00000112852	ENST00000194155	T	0.14766	2.48	4.34	3.46	0.39613	.	.	.	.	.	T	0.08846	0.0219	N	0.19112	0.55	0.09310	N	0.999996	B	0.06786	0.001	B	0.09377	0.004	T	0.28996	-1.0026	9	0.37606	T	0.19	.	7.488	0.27445	0.0:0.7328:0.1733:0.0939	.	777	Q9Y5E7	PCDB2_HUMAN	F	777	ENSP00000194155:V777F	ENSP00000194155:V777F	V	+	1	0	PCDHB2	140456887	0.000000	0.05858	0.499000	0.27577	0.170000	0.22686	-0.062000	0.11674	0.936000	0.37367	-0.153000	0.13522	GTT		0.507	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		T	140476703	G	T	140476703	3	4	175	1	0	0	0	0	1	0	0	0	11542	1145	40	3	2331	3	PCDHB2	5	140476703	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	96171465	140476703	40438557	29	9942											
PCDHB4	56131	genome.wustl.edu	37	5	140502109	140502109	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:140502109T>A	ENST00000194152.1	+	1	529	c.529T>A	c.(529-531)Ttt>Att	p.F177I	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATTCTCATTTTCACATTCT	0.453																																																0			5											58	59	59					5																	140502109		2203	4300	6503	140482293	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.529T>A	5.37:g.140502109T>A	ENSP00000194152:p.Phe177Ile		140482293	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938392	0.73557	.	.	ENSG00000081818	ENST00000194152	T	0.71934	-0.61	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90807	0.7113	H	0.99851	4.845	0.43879	D	0.996492	D	0.58620	0.983	D	0.64321	0.924	D	0.94699	0.7881	9	0.87932	D	0	.	14.3668	0.66810	0.0:0.0:0.0:1.0	.	177	Q9Y5E5	PCDB4_HUMAN	I	177	ENSP00000194152:F177I	ENSP00000194152:F177I	F	+	1	0	PCDHB4	140482293	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.701000	0.68325	2.033000	0.60031	0.533000	0.62120	TTT		0.453	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140502109	T	A	140502109	3	1	175	1	0	0	0	0	1	0	0	0	11544	1841	64	5	531	5	PCDHB4	5	140502109	Missense_Mutation	SNP	T	TCGA-23-1029-01B-01W-0639-09	25406	140502109	40413151	30	9943											
SKIV2L	6499	genome.wustl.edu	37	6	31931792	31931792	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr6:31931792T>G	ENST00000375394.2	+	16	1863	c.1750T>G	c.(1750-1752)Tca>Gca	p.S584A	SKIV2L_ENST00000544581.1_Missense_Mutation_p.S391A	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	584					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGAGCAGGCCTCAGGCCTCAC	0.662																																																0			6											107	111	110					6																	31931792		1510	2709	4219	32039771	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1750T>G	6.37:g.31931792T>G	ENSP00000364543:p.Ser584Ala		32039771	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856742	0.32791	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.70516	-0.49;-0.49	5.69	4.5	0.54988	.	0.193399	0.43747	D	0.000538	T	0.19327	0.0464	N	0.04245	-0.25	0.31559	N	0.657755	B	0.18461	0.028	B	0.09377	0.004	T	0.09840	-1.0656	10	0.07644	T	0.81	-6.8039	7.4095	0.27009	0.1427:0.0:0.1492:0.7081	.	584	Q15477	SKIV2_HUMAN	A	584;426;391	ENSP00000364543:S584A;ENSP00000442645:S391A	ENSP00000364543:S584A	S	+	1	0	SKIV2L	32039771	0.998000	0.40836	0.953000	0.39169	0.997000	0.91878	3.196000	0.51020	0.958000	0.37956	0.533000	0.62120	TCA		0.662	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			G	31931792	T	G	31931792	3	3	175	1	0	0	0	0	1	0	0	0	14362	1551	54	5	1812	5	SKIV2L	6	31931792	Missense_Mutation	SNP	T	TCGA-23-1029-01B-01W-0639-09		31931792	139183275	31	9944											
BRPF3	27154	genome.wustl.edu	37	6	36168392	36168392	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr6:36168392A>G	ENST00000357641.6	+	2	546	c.293A>G	c.(292-294)aAa>aGa	p.K98R	BRPF3_ENST00000443324.2_Missense_Mutation_p.K98R|BRPF3_ENST00000339717.7_Missense_Mutation_p.K98R|BRPF3_ENST00000543502.1_Missense_Mutation_p.K98R|BRPF3_ENST00000534400.1_Missense_Mutation_p.K98R|BRPF3_ENST00000534694.1_Missense_Mutation_p.K98R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	98					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCCAAGGGCAAAAAGAAGGAA	0.522																																																0			6											99	92	95					6																	36168392		2203	4300	6503	36276370	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.293A>G	6.37:g.36168392A>G	ENSP00000350267:p.Lys98Arg		36276370	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.209556	0.39003	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000454960;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.73	5.73	0.89815	Enhancer of polycomb-like, N-terminal (1);	0.194725	0.45867	D	0.000323	T	0.22126	0.0533	L	0.34521	1.04	0.46336	D	0.998991	B;B;B	0.18863	0.004;0.012;0.031	B;B;B	0.22152	0.015;0.026;0.038	T	0.04607	-1.0939	10	0.41790	T	0.15	.	16.0601	0.80834	1.0:0.0:0.0:0.0	.	98;98;98	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	R	98	ENSP00000350267:K98R;ENSP00000345419:K98R;ENSP00000434501:K98R;ENSP00000413655:K98R;ENSP00000445352:K98R;ENSP00000387368:K98R;ENSP00000436504:K98R	ENSP00000345419:K98R	K	+	2	0	BRPF3	36276370	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.751000	0.68720	2.199000	0.70637	0.451000	0.29950	AAA		0.522	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		G	36168392	A	G	36168392	3	3	175	1	0	0	0	0	1	0	0	0	1521	14	1	4	295	4	BRPF3	6	36168392	Missense_Mutation	SNP	A	TCGA-23-1029-01B-01W-0639-09	4236600	36168392	134946675	32	9945											
SLC35D3	340146	genome.wustl.edu	37	6	137245635	137245635	+	Missense_Mutation	SNP	C	C	G	rs141505785	byFrequency	TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr6:137245635C>G	ENST00000331858.4	+	2	1217	c.1052C>G	c.(1051-1053)gCa>gGa	p.A351G		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	351					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GGTGGGGAGGCAGCAGGTGGC	0.682																																																0			6											38	40	40					6																	137245635		2203	4300	6503	137287328	SO:0001583	missense	340146				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"Solute carriers"	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1052C>G	6.37:g.137245635C>G	ENSP00000333591:p.Ala351Gly		137287328	B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	C	2.064	-0.414612	0.04766	.	.	ENSG00000182747	ENST00000331858	T	0.56103	0.48	6.06	1.22	0.21188	.	0.885835	0.09970	N	0.732419	T	0.12475	0.0303	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30880	-0.9963	10	0.27785	T	0.31	0.0043	5.7914	0.18363	0.2091:0.4691:0.2588:0.063	.	351	Q5M8T2	S35D3_HUMAN	G	351	ENSP00000333591:A351G	ENSP00000333591:A351G	A	+	2	0	SLC35D3	137287328	0.937000	0.31787	0.740000	0.30986	0.127000	0.20565	0.750000	0.26334	-0.063000	0.13065	-0.181000	0.13052	GCA		0.682	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		G	137245635	C	G	137245635	3	3	175	1	0	0	0	0	1	0	0	0	14586	710	25	3	1058	3	SLC35D3	6	137245635	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	101077243	137245635	33869432	33	9946											
HIVEP2	3097	genome.wustl.edu	37	6	143074718	143074723	+	In_Frame_Del	DEL	AGCGTG	AGCGTG	-	rs374372846		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	AGCGTG	AGCGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr6:143074718_143074723delAGCGTG	ENST00000367604.1	-	9	7501_7506	c.6862_6867delCACGCT	c.(6862-6867)cacgctdel	p.HA2288del	HIVEP2_ENST00000012134.2_In_Frame_Del_p.HA2288del|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_In_Frame_Del_p.HA2288del			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATGACTGCAAAGCGTGAGGACCTCGC	0.558																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											0			6																																								143116416	SO:0001651	inframe_deletion	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6862_6867delCACGCT	6.37:g.143074718_143074723delAGCGTG	ENSP00000356576:p.His2288_Ala2289del		143116411	Q02646|Q5THT5|Q9NS05	In_Frame_Del	DEL	ENST00000367604.1	37	CCDS43510.1																																																																																				0.558	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			-	143074723	AGCGTG	-	143074718	7	5	175	1	0	1	0	1	0	0	0	0	7187	59	3	0	477	0	HIVEP2	6	143074718	In_Frame_Del	DEL	AGCGTG	TCGA-23-1029-01B-01W-0639-09	5829083	143074718	28040349	34	9947											
MKLN1	4289	genome.wustl.edu	37	7	131084026	131084026	+	Silent	SNP	T	T	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr7:131084026T>A	ENST00000352689.6	+	6	577	c.537T>A	c.(535-537)ctT>ctA	p.L179L	MKLN1_ENST00000421797.2_Silent_p.L87L|MKLN1_ENST00000429546.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	179	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CTATTCGCCTTTGCCTAAAAC	0.378																																																0			7											131	132	131					7																	131084026		2203	4300	6503	130734566	SO:0001819	synonymous_variant	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.537T>A	7.37:g.131084026T>A			130734566	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	CCDS34754.1																																																																																				0.378	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		A	131084026	T	A	131084026	2	1	175	1	0	0	0	0	0	0	0	1	9603	1828	64	5		5	MKLN1	7	131084026	Silent	SNP	T	TCGA-23-1029-01B-01W-0639-09		131084026	28054637	35	9948											
RP1L1	94137	genome.wustl.edu	37	8	10464495	10464495	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr8:10464495G>T	ENST00000382483.3	-	4	7336	c.7113C>A	c.(7111-7113)gaC>gaA	p.D2371E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2451					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCTTGTAGGTCATAACCTT	0.552																																																0			8											102	107	106					8																	10464495		1913	4116	6029	10501905	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7113C>A	8.37:g.10464495G>T	ENSP00000371923:p.Asp2371Glu		10501905	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	9.297	1.052198	0.19827	.	.	ENSG00000183638	ENST00000382483	T	0.04083	3.71	4.29	2.44	0.29823	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	P	0.37330	0.59	B	0.33196	0.159	T	0.39210	-0.9625	9	0.10902	T	0.67	-3.3776	3.5326	0.07782	0.2967:0.1999:0.5034:0.0	.	2371	A6NKC6	.	E	2371	ENSP00000371923:D2371E	ENSP00000371923:D2371E	D	-	3	2	RP1L1	10501905	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.417000	0.21214	0.539000	0.28788	0.555000	0.69702	GAC		0.552	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10464495	G	T	10464495	3	4	175	1	0	0	0	0	1	0	0	0	13536	1252	44	3	93	3	RP1L1	8	10464495	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09		10464495	135899527	36	9949											
CLVS1	157807	genome.wustl.edu	37	8	62370995	62370995	+	Missense_Mutation	SNP	G	G	T	rs562615173		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr8:62370995G>T	ENST00000519846.1	+	6	1343	c.871G>T	c.(871-873)Gac>Tac	p.D291Y	CLVS1_ENST00000325897.4_Missense_Mutation_p.D291Y|CLVS1_ENST00000518592.1_Missense_Mutation_p.D12Y			Q8IUQ0	CLVS1_HUMAN	clavesin 1	291					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACTCGGTCCCGACTACAGCGA	0.478																																																0			8											106	93	97					8																	62370995		2203	4300	6503	62533549	SO:0001583	missense	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.871G>T	8.37:g.62370995G>T	ENSP00000428402:p.Asp291Tyr		62533549	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002983	0.93287	.	.	ENSG00000177182	ENST00000519846;ENST00000518592;ENST00000325897;ENST00000520712	T;T	0.80304	-1.36;-1.36	5.43	5.43	0.79202	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	P	0.58172	0.834	T	0.82210	-0.0570	10	0.49607	T	0.09	-6.6879	19.4372	0.94801	0.0:0.0:1.0:0.0	.	291	Q8IUQ0	CLVS1_HUMAN	Y	291;12;291;12	ENSP00000428402:D291Y;ENSP00000325506:D291Y	ENSP00000325506:D291Y	D	+	1	0	CLVS1	62533549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.155000	0.94700	2.827000	0.97445	0.650000	0.86243	GAC		0.478	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		T	62370995	G	T	62370995	3	4	175	1	0	0	0	0	1	0	0	0	3571	1058	37	3	885	3	CLVS1	8	62370995	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	51906500	62370995	83993027	37	9950											
YTHDF3	253943	genome.wustl.edu	37	8	64099737	64099737	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr8:64099737G>A	ENST00000539294.1	+	4	1481	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.E200K|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	390							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TTCTAGTGTAGAAGTGCATCC	0.433																																																0			8											99	96	97					8																	64099737		1951	4147	6098	64262291	SO:0001583	missense	253943			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"YTH domain family 3"			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1165G>A	8.37:g.64099737G>A	ENSP00000473496:p.Glu389Lys		64262291	B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37																																																																																					0.433	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		A	64099737	G	A	64099737	3	1	175	1	0	0	0	0	1	0	0	0	17500	937	33	2	1181	2	YTHDF3	8	64099737	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	1728742	64099737	82264285	38	9951											
RPL8	6132	genome.wustl.edu	37	8	146015206	146015206	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr8:146015206G>C	ENST00000262584.3	-	6	989	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	RPL8_ENST00000529163.1_5'UTR|ZNF34_ENST00000343459.4_5'Flank|ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000394920.2_Missense_Mutation_p.Q253E|RPL8_ENST00000527914.1_Missense_Mutation_p.Q144E|RPL8_ENST00000528957.1_Missense_Mutation_p.Q253E	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	253					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		TCTTTCTCCTGCACAGTCTTG	0.602																																																0			8											144	148	147					8																	146015206		2203	4300	6503	145986010	SO:0001583	missense	6132			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"L ribosomal proteins"	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.757C>G	8.37:g.146015206G>C	ENSP00000262584:p.Gln253Glu		145986010	A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	ENST00000262584.3	37	CCDS6433.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401497	0.62288	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000534813;ENST00000533397	T;T;T	0.41065	1.01;1.01;1.01	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	N	0.26042	0.785	0.80722	D	1	B;B	0.12013	0.0;0.005	B;B	0.11329	0.0;0.006	T	0.08806	-1.0704	10	0.42905	T	0.14	-5.2294	15.6573	0.77150	0.0:0.0:1.0:0.0	.	253;217	P62917;E9PIZ3	RL8_HUMAN;.	E	253;144;253;217;232	ENSP00000378378:Q253E;ENSP00000262584:Q253E;ENSP00000435313:Q232E	ENSP00000262584:Q253E	Q	-	1	0	RPL8	145986010	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	8.425000	0.90270	2.364000	0.80123	0.555000	0.69702	CAG		0.602	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		C	146015206	G	C	146015206	3	2	175	1	0	0	0	0	1	0	0	0	13605	1328	46	3	20	3	RPL8	8	146015206	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	81915469	146015206	348816	39	9952											
RLN1	6013	genome.wustl.edu	37	9	5339624	5339624	+	Silent	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr9:5339624G>A	ENST00000223862.1	-	1	249	c.123C>T	c.(121-123)cgC>cgT	p.R41R	RLN1_ENST00000487557.2_5'Flank|RLN1_ENST00000223858.4_Silent_p.R41R	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	41					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		CAATCTGCGCGCGAACTAATT	0.512																																																0			9											36	40	39					9																	5339624		2200	4299	6499	5329624	SO:0001819	synonymous_variant	6013				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"Endogenous ligands"	10026	protein-coding gene	gene with protein product	"prorelaxin H1"	179730	"relaxin 1 (H1)"				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.123C>T	9.37:g.5339624G>A			5329624	Q99936|Q9UQJ1	Silent	SNP	ENST00000223862.1	37	CCDS6462.1																																																																																				0.512	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051617.1			A	5339624	G	A	5339624	2	1	175	1	0	0	0	0	0	0	0	1	13394	1074	38	1		1	RLN1	9	5339624	Silent	SNP	G	TCGA-23-1029-01B-01W-0639-09		5339624	135873807	40	9953											
ZNF462	58499	genome.wustl.edu	37	9	109689187	109689187	+	Silent	SNP	T	T	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr9:109689187T>C	ENST00000277225.5	+	3	3283	c.2994T>C	c.(2992-2994)ggT>ggC	p.G998G	ZNF462_ENST00000457913.1_Silent_p.G998G|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	998					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCGTGGTGGTGGTTTGCCAG	0.478																																																0			9											96	102	100					9																	109689187		2203	4300	6503	108729008	SO:0001819	synonymous_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2994T>C	9.37:g.109689187T>C			108729008	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.478	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		C	109689187	T	C	109689187	2	2	175	1	0	0	0	0	0	0	0	1	17926	1683	59	4		4	ZNF462	9	109689187	Silent	SNP	T	TCGA-23-1029-01B-01W-0639-09	104349563	109689187	31524244	41	9954											
MLLT10	8028	genome.wustl.edu	37	10	21962363	21962363	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr10:21962363A>T	ENST00000307729.7	+	11	1314	c.1136A>T	c.(1135-1137)gAc>gTc	p.D379V	MLLT10_ENST00000377059.3_Missense_Mutation_p.D379V|MLLT10_ENST00000377072.3_Missense_Mutation_p.D379V|MLLT10_ENST00000446906.2_Missense_Mutation_p.D379V			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	379	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AGCTTTACAGACTCAGATCTG	0.448			T	"MLL, PICALM, CDK6"	AL																																		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0			10											138	145	143					10																	21962363		2203	4300	6503	22002369	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1136A>T	10.37:g.21962363A>T	ENSP00000307411:p.Asp379Val		22002369	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032010	0.54790	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.15952	2.39;2.39;2.38;2.39	5.97	5.97	0.96955	.	0.364684	0.31834	N	0.006990	T	0.23249	0.0562	N	0.14661	0.345	0.80722	D	1	D;B;P;B	0.63046	0.992;0.104;0.535;0.129	P;B;B;B	0.59546	0.859;0.035;0.31;0.048	T	0.05225	-1.0898	10	0.49607	T	0.09	.	16.4383	0.83889	1.0:0.0:0.0:0.0	.	225;379;379;379	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	V	379;379;379;225;379	ENSP00000366272:D379V;ENSP00000401406:D379V;ENSP00000307411:D379V;ENSP00000366258:D379V	ENSP00000307411:D379V	D	+	2	0	MLLT10	22002369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.165000	0.77544	2.287000	0.76781	0.482000	0.46254	GAC		0.448	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			T	21962363	A	T	21962363	3	4	175	1	0	0	0	0	1	0	0	0	9626	275	10	5	1174	5	MLLT10	10	21962363	Missense_Mutation	SNP	A	TCGA-23-1029-01B-01W-0639-09		21962363	113572384	42	9955											
A1CF	29974	genome.wustl.edu	37	10	52619624	52619624	+	Missense_Mutation	SNP	C	C	T	rs529819396		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr10:52619624C>T	ENST00000373993.1	-	1	121	c.77G>A	c.(76-78)cGc>cAc	p.R26H	A1CF_ENST00000373997.3_Missense_Mutation_p.R26H|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.R26H|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.2_Missense_Mutation_p.R26H|A1CF_ENST00000395495.1_Missense_Mutation_p.R26H			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	26					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATATCCTGTGCGCTGGACCAG	0.483													C|||	1	0.000199681	0	0	5008	,	,		17519	0.001		0	False		,,,				2504	0															0			10											91	81	84					10																	52619624		2203	4300	6503	52289630	SO:0001583	missense	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.77G>A	10.37:g.52619624C>T	ENSP00000363105:p.Arg26His		52289630	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894296	0.91889	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000282641;ENST00000395495;ENST00000414883	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;2.57;1.98	5.83	5.83	0.93111	.	1.126430	0.06545	N	0.743895	T	0.73877	0.3643	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.74023	0.495;0.982	T	0.65639	-0.6119	10	0.87932	D	0	.	17.6277	0.88097	0.0:1.0:0.0:0.0	.	26;26	Q9NQ94;Q9NQ94-2	A1CF_HUMAN;.	H	26	ENSP00000363113:R26H;ENSP00000363105:R26H;ENSP00000363109:R26H;ENSP00000282641:R26H;ENSP00000378873:R26H;ENSP00000397953:R26H	ENSP00000282641:R26H	R	-	2	0	A1CF	52289630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.944000	0.75940	2.770000	0.95276	0.655000	0.94253	CGC		0.483	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		T	52619624	C	T	52619624	3	4	175	1	0	0	0	0	1	0	0	0	2	768	27	1	1878	1	A1CF	10	52619624	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	30657261	52619624	82915123	43	9956											
PDE6C	5146	genome.wustl.edu	37	10	95380445	95380445	+	Silent	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr10:95380445G>T	ENST00000371447.3	+	2	675	c.537G>T	c.(535-537)ctG>ctT	p.L179L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	179	GAF 1.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CTAAGAACCTGCTGGCAACCC	0.428																																																0			10											112	107	109					10																	95380445		2203	4300	6503	95370435	SO:0001819	synonymous_variant	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.537G>T	10.37:g.95380445G>T			95370435	A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	CCDS7429.1																																																																																				0.428	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		T	95380445	G	T	95380445	2	4	175	1	0	0	0	0	0	0	0	1	11647	1306	46	3		3	PDE6C	10	95380445	Silent	SNP	G	TCGA-23-1029-01B-01W-0639-09	42760821	95380445	40154302	44	9957											
OBFC1	79991	genome.wustl.edu	37	10	105658748	105658748	+	Silent	SNP	G	G	A	rs577905006		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr10:105658748G>A	ENST00000224950.3	-	6	635	c.468C>T	c.(466-468)gaC>gaT	p.D156D	OBFC1_ENST00000369764.1_Silent_p.D156D|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	156					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		ACACTGGGTCGTCCACTTTAT	0.423													G|||	1	0.000199681	8e-04	0	5008	,	,		23383	0		0	False		,,,				2504	0															0			10											85	79	81					10																	105658748		2203	4300	6503	105648738	SO:0001819	synonymous_variant	79991			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.468C>T	10.37:g.105658748G>A			105648738	D3DR99|Q5TCZ0	Silent	SNP	ENST00000224950.3	37	CCDS7552.1																																																																																				0.423	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		A	105658748	G	A	105658748	2	1	175	1	0	0	0	0	0	0	0	1	10807	1136	40	1		1	OBFC1	10	105658748	Silent	SNP	G	TCGA-23-1029-01B-01W-0639-09	10278303	105658748	29875999	45	9958											
SIRT3	23410	genome.wustl.edu	37	11	218843	218843	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:218843C>T	ENST00000382743.4	-	6	1270	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	SIRT3_ENST00000529382.1_Missense_Mutation_p.E248K|SIRT3_ENST00000524564.1_Missense_Mutation_p.E326K|SIRT3_ENST00000525319.1_Missense_Mutation_p.E309K|SIRT3_ENST00000532956.1_Missense_Mutation_p.E336K	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	390					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TTCCCAGTTTCCCGCTGCACA	0.602																																																0			11											115	98	104					11																	218843		2203	4300	6503	208843	SO:0001583	missense	23410			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1168G>A	11.37:g.218843C>T	ENSP00000372191:p.Glu390Lys		208843	B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987917	0.35036	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.91	4.91	0.64330	.	0.305928	0.30159	N	0.010276	T	0.19685	0.0473	M	0.66439	2.03	0.50813	D	0.999892	P;P;P;P;P	0.50617	0.716;0.937;0.574;0.896;0.555	B;B;B;B;B	0.40741	0.297;0.191;0.056;0.339;0.143	T	0.01706	-1.1291	10	0.51188	T	0.08	-22.2293	11.0606	0.47944	0.0:0.9139:0.0:0.0861	.	336;390;309;326;390	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	K	390;309;326;336;248	ENSP00000372191:E390K;ENSP00000435464:E309K;ENSP00000432937:E326K;ENSP00000433077:E336K;ENSP00000437216:E248K	ENSP00000372191:E390K	E	-	1	0	SIRT3	208843	0.697000	0.27767	0.972000	0.41901	0.095000	0.18619	2.321000	0.43805	2.457000	0.83068	0.505000	0.49811	GAA		0.602	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			T	218843	C	T	218843	3	4	175	1	0	0	0	0	1	0	0	0	14342	864	30	2	39	2	SIRT3	11	218843	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09		218843	134787673	46	9959											
LDHAL6A	160287	genome.wustl.edu	37	11	18485528	18485528	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:18485528C>T	ENST00000280706.2	+	2	944	c.147C>T	c.(145-147)gtC>gtT	p.V49V	LDHAL6A_ENST00000396213.3_Silent_p.V49V	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	49					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						ATGAACTTGTCCTTGTGGATG	0.388																																																0			11											167	139	149					11																	18485528		2199	4293	6492	18442104	SO:0001819	synonymous_variant	160287			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.147C>T	11.37:g.18485528C>T			18442104	D3DQY5	Silent	SNP	ENST00000280706.2	37	CCDS7841.1																																																																																				0.388	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		T	18485528	C	T	18485528	2	4	175	1	0	0	0	0	0	0	0	1	8699	842	30	2		2	LDHAL6A	11	18485528	Silent	SNP	C	TCGA-23-1029-01B-01W-0639-09	18266685	18485528	116520988	47	9960											
CELF1	10658	genome.wustl.edu	37	11	47497019	47497019	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:47497019C>T	ENST00000358597.3	-	10	1057	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	CELF1_ENST00000539455.1_5'Flank|CELF1_ENST00000395290.2_Missense_Mutation_p.G352E|CELF1_ENST00000361904.3_Missense_Mutation_p.G350E|CELF1_ENST00000532048.1_Missense_Mutation_p.G379E|CELF1_ENST00000310513.5_Missense_Mutation_p.G349E|CELF1_ENST00000531165.1_Missense_Mutation_p.G381E|CELF1_ENST00000395292.2_Missense_Mutation_p.G350E			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	353					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CATGGTGCTCCCGGTGCCATT	0.522																																					Pancreas(163;1949 1966 9906 43218 43785)											0			11											80	80	80					11																	47497019		2201	4298	6499	47453595	SO:0001583	missense	10658			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1058G>A	11.37:g.47497019C>T	ENSP00000351409:p.Gly353Glu		47453595	B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665811	0.88251	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.4	5.4	0.78164	.	0.214337	0.48286	N	0.000193	T	0.51991	0.1707	L	0.40543	1.245	0.80722	D	1	P;P;P;P;P;P	0.45078	0.85;0.85;0.85;0.85;0.85;0.767	P;P;P;P;P;B	0.44477	0.451;0.451;0.451;0.451;0.451;0.264	T	0.52268	-0.8598	10	0.45353	T	0.12	-6.0827	19.1802	0.93620	0.0:1.0:0.0:0.0	.	352;381;379;349;350;353	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	E	352;353;350;349;350;381;379	ENSP00000378705:G352E;ENSP00000351409:G353E;ENSP00000378706:G350E;ENSP00000308386:G349E;ENSP00000354639:G350E;ENSP00000436864:G381E;ENSP00000435926:G379E	ENSP00000308386:G349E	G	-	2	0	CELF1	47453595	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	3.261000	0.51530	2.537000	0.85549	0.557000	0.71058	GGG		0.522	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		T	47497019	C	T	47497019	3	4	175	1	0	0	0	0	1	0	0	0	3215	623	22	2	414	2	CELF1	11	47497019	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	29011491	47497019	87509497	48	9961											
CCDC86	79080	genome.wustl.edu	37	11	60617762	60617762	+	Silent	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:60617762G>A	ENST00000227520.5	+	4	1101	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Silent_p.Q93Q	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	349					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CCCTGCTGCAGAAGCAGCCGC	0.637																																																0			11											33	41	38					11																	60617762		2203	4299	6502	60374338	SO:0001819	synonymous_variant	79080			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.1047G>A	11.37:g.60617762G>A			60374338	B4DY99	Silent	SNP	ENST00000227520.5	37	CCDS7993.1																																																																																				0.637	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		A	60617762	G	A	60617762	2	1	175	1	0	0	0	0	0	0	0	1	2861	933	33	2		2	CCDC86	11	60617762	Silent	SNP	G	TCGA-23-1029-01B-01W-0639-09	13120743	60617762	74388754	49	9962											
KDM4D	55693	genome.wustl.edu	37	11	94731825	94731825	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:94731825G>C	ENST00000335080.5	+	3	2121	c.1289G>C	c.(1288-1290)aGc>aCc	p.S430T	KDM4D_ENST00000536741.1_Missense_Mutation_p.S430T	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	430					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAGAAGCCCAGCTCAACTCCA	0.587																																																0			11											73	73	73					11																	94731825		2201	4298	6499	94371473	SO:0001583	missense	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1289G>C	11.37:g.94731825G>C	ENSP00000334181:p.Ser430Thr		94371473	B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742152	0.03088	.	.	ENSG00000186280	ENST00000335080	T	0.27890	1.64	3.92	-1.43	0.08884	.	2.040860	0.03520	U	0.220847	T	0.13841	0.0335	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.20874	-1.0262	10	0.13108	T	0.6	0.008	7.5499	0.27790	0.6166:0.0:0.3834:0.0	.	430	Q6B0I6	KDM4D_HUMAN	T	430	ENSP00000334181:S430T	ENSP00000334181:S430T	S	+	2	0	KDM4D	94371473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.031000	0.13710	-0.271000	0.09272	0.655000	0.94253	AGC		0.587	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		C	94731825	G	C	94731825	3	2	175	1	0	0	0	0	1	0	0	0	8131	971	34	3	1291	3	KDM4D	11	94731825	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	34114063	94731825	40274691	50	9963											
OR8D4	338662	genome.wustl.edu	37	11	123777825	123777825	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:123777825C>G	ENST00000321355.2	+	1	717	c.687C>G	c.(685-687)caC>caG	p.H229Q		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCGCATCCACTCTAAAAAGG	0.433																																																0			11											103	102	102					11																	123777825		2202	4299	6501	123283035	SO:0001583	missense	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.687C>G	11.37:g.123777825C>G	ENSP00000325381:p.His229Gln		123283035	Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	7.311	0.614930	0.14129	.	.	ENSG00000181518	ENST00000321355	T	0.35605	1.3	5.81	-0.494	0.12034	GPCR, rhodopsin-like superfamily (1);	1.095760	0.07015	N	0.825811	T	0.20659	0.0497	N	0.13352	0.335	0.09310	N	0.999991	B	0.14805	0.011	B	0.18871	0.023	T	0.26643	-1.0097	10	0.35671	T	0.21	.	5.9819	0.19411	0.1258:0.3875:0.0:0.4867	.	229	Q8NGM9	OR8D4_HUMAN	Q	229	ENSP00000325381:H229Q	ENSP00000325381:H229Q	H	+	3	2	OR8D4	123283035	0.000000	0.05858	0.006000	0.13384	0.748000	0.42578	-3.749000	0.00376	-0.351000	0.08249	0.655000	0.94253	CAC		0.433	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		G	123777825	C	G	123777825	3	3	175	1	0	0	0	0	1	0	0	0	11233	564	20	3	689	3	OR8D4	11	123777825	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	29046000	123777825	11228691	51	9964											
SLCO1A2	6579	genome.wustl.edu	37	12	21454177	21454177	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr12:21454177C>A	ENST00000307378.6	-	8	1336	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G74C|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G204C|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G74C|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G206C	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	206					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATCAAAGGACCAATAATAGCT	0.328																																																0			12											67	62	64					12																	21454177		2203	4298	6501	21345444	SO:0001583	missense	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.616G>T	12.37:g.21454177C>A	ENSP00000305974:p.Gly206Cys		21345444	Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866478	0.51588	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.43	5.43	0.79202	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.96239	3.79	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94763	0.7938	10	0.87932	D	0	.	17.6045	0.88034	0.0:1.0:0.0:0.0	.	186;204;206	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	C	206;206;74;74;204	ENSP00000305974:G206C;ENSP00000393973:G206C;ENSP00000394854:G74C;ENSP00000439401:G74C;ENSP00000375088:G204C	ENSP00000305974:G206C	G	-	1	0	SLCO1A2	21345444	1.000000	0.71417	0.976000	0.42696	0.006000	0.05464	5.188000	0.65093	2.826000	0.97356	0.655000	0.94253	GGT		0.328	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		A	21454177	C	A	21454177	3	1	175	1	0	0	0	0	1	0	0	0	14725	594	21	3	1432	3	SLCO1A2	12	21454177	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09		21454177	112397718	52	9965											
SLC16A7	9194	genome.wustl.edu	37	12	60098800	60098800	+	Splice_Site	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr12:60098800G>T	ENST00000261187.4	+	2	381		c.e2+1		SLC16A7_ENST00000543448.1_Splice_Site|SLC16A7_ENST00000547379.1_Splice_Site|SLC16A7_ENST00000549588.1_Splice_Site|SLC16A7_ENST00000552432.1_Splice_Site|SLC16A7_ENST00000549465.1_Splice_Site|SLC16A7_ENST00000552024.1_Splice_Site	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7						lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TACGCAGGAGGTAAGCTTCTT	0.353																																																0			12											68	65	66					12																	60098800		2203	4300	6503	58385067	SO:0001630	splice_region_variant	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.217+1G>T	12.37:g.60098800G>T			58385067	Q8NEM3|Q9UPB3	Splice_Site	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679435	0.88542	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000549465;ENST00000552024;ENST00000548610;ENST00000261187	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3075	0.98634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC16A7	58385067	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.718000	0.98758	2.880000	0.98712	0.650000	0.86243	.		0.353	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	Intron	T	60098800	G	T	60098800	5	4	175	1	0	0	0	0	0	0	1	0	14416	1275	44	3	220	3	SLC16A7	12	60098800	Splice_Site	SNP	G	TCGA-23-1029-01B-01W-0639-09	38644623	60098800	73753095	53	9966											
ACADS	35	genome.wustl.edu	37	12	121177128	121177158	+	Frame_Shift_Del	DEL	CGTGACAGAGATGCCGGCAGAGCGGCACTAC	CGTGACAGAGATGCCGGCAGAGCGGCACTAC	-	rs183161718|rs28940875|rs371934737|rs374867417|rs368064268		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	CGTGACAGAGATGCCGGCAGAGCGGCACTAC	CGTGACAGAGATGCCGGCAGAGCGGCACTAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr12:121177128_121177158delCGTGACAGAGATGCCGGCAGAGCGGCACTAC	ENST00000242592.4	+	10	1267_1297	c.1116_1146delCGTGACAGAGATGCCGGCAGAGCGGCACTAC	c.(1114-1146)tacgtgacagagatgccggcagagcggcactacfs	p.YVTEMPAERHY372fs	ACADS_ENST00000411593.2_Frame_Shift_Del_p.YVTEMPAERHY368fs|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	372					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GCATGGGCTACGTGACAGAGATGCCGGCAGAGCGGCACTACCGCGACGCCC	0.654																																																0			12	GRCh37	CM010009	ACADS	M	rs28940875																																			119661541	SO:0001589	frameshift_variant	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.1116_1146delCGTGACAGAGATGCCGGCAGAGCGGCACTAC	12.37:g.121177128_121177158delCGTGACAGAGATGCCGGCAGAGCGGCACTAC	ENSP00000242592:p.Tyr372fs		119661511	P78331	Frame_Shift_Del	DEL	ENST00000242592.4	37	CCDS9207.1																																																																																				0.654	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		-	121177158	CGTGACAGAGATGCCGGCAGAGCGGCACTAC	-	121177128	7	5	175	1	0	1	0	1	0	0	0	0	114	547	19	0	1154	0	ACADS	12	121177128	Frame_Shift_Del	DEL	CGTGACAGAGATGCCGGCAGAGCGGCACTAC	TCGA-23-1029-01B-01W-0639-09	61078328	121177128	12674767	54	9967											
CCNA1	8900	genome.wustl.edu	37	13	37007278	37007278	+	Missense_Mutation	SNP	C	C	A	rs370590641		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr13:37007278C>A	ENST00000255465.4	+	2	481	c.217C>A	c.(217-219)Ccg>Acg	p.P73T	CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.P72T|CCNA1_ENST00000440264.1_Missense_Mutation_p.P29T|CCNA1_ENST00000449823.1_Missense_Mutation_p.P29T			P78396	CCNA1_HUMAN	cyclin A1	73					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CACCAGAGCCCCGCTGGGCCA	0.592																																																0			13											76	74	75					13																	37007278		2203	4300	6503	35905278	SO:0001583	missense	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.217C>A	13.37:g.37007278C>A	ENSP00000255465:p.Pro73Thr		35905278	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620574	0.28801	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.13538	2.61;2.61;2.58;2.58	4.63	3.79	0.43588	.	0.877543	0.10026	N	0.725334	T	0.07369	0.0186	N	0.08118	0	0.24577	N	0.99389	B;B	0.17667	0.009;0.023	B;B	0.15870	0.013;0.014	T	0.38693	-0.9649	10	0.15952	T	0.53	.	10.1372	0.42715	0.0:0.9042:0.0:0.0958	.	72;73	P78396-2;P78396	.;CCNA1_HUMAN	T	29;29;72;73	ENSP00000400666:P29T;ENSP00000409873:P29T;ENSP00000396479:P72T;ENSP00000255465:P73T	ENSP00000255465:P73T	P	+	1	0	CCNA1	35905278	0.084000	0.21492	0.967000	0.41034	0.950000	0.60333	2.376000	0.44292	1.066000	0.40716	0.555000	0.69702	CCG		0.592	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		A	37007278	C	A	37007278	3	1	175	1	0	0	0	0	1	0	0	0	2909	623	22	3	223	3	CCNA1	13	37007278	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09		37007278	78162600	55	9968											
FANCM	57697	genome.wustl.edu	37	14	45645514	45645514	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr14:45645514A>C	ENST00000267430.5	+	14	3642	c.3557A>C	c.(3556-3558)aAt>aCt	p.N1186T	FANCM_ENST00000542564.2_Missense_Mutation_p.N1160T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1186					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTGTTGGACAATAATTCTGAA	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0			14											88	93	91					14																	45645514		2203	4300	6503	44715264	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3557A>C	14.37:g.45645514A>C	ENSP00000267430:p.Asn1186Thr		44715264	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.04|10.04	1.240568|1.240568	0.22711|0.22711	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.17691|.	2.86;2.86;2.26|.	5.61|5.61	-2.93|-2.93	0.05598|0.05598	.|.	0.839320|.	0.10950|.	N|.	0.616142|.	T|T	0.31358|0.31358	0.0794|0.0794	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.31125|.	0.309;0.309|.	B;B|.	0.26770|.	0.049;0.073|.	T|T	0.35624|0.35624	-0.9781|-0.9781	10|5	0.10377|.	T|.	0.69|.	.|.	1.7647|1.7647	0.02999|0.02999	0.3534:0.2366:0.2946:0.1154|0.3534:0.2366:0.2946:0.1154	.|.	1160;1186|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	T|H	1186;1160;702|118	ENSP00000267430:N1186T;ENSP00000442493:N1160T;ENSP00000452033:N702T|.	ENSP00000267430:N1186T|.	N|Q	+|+	2|3	0|2	FANCM|FANCM	44715264|44715264	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.387000|0.387000	0.30353|0.30353	-0.229000|-0.229000	0.09098|0.09098	-0.140000|-0.140000	0.11394|0.11394	-0.462000|-0.462000	0.05337|0.05337	AAT|CAA		0.373	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		C	45645514	A	C	45645514	3	2	175	1	0	0	0	0	1	0	0	0	5671	101	4	5	3611	5	FANCM	14	45645514	Missense_Mutation	SNP	A	TCGA-23-1029-01B-01W-0639-09		45645514	61704026	56	9969											
FBLN5	10516	genome.wustl.edu	37	14	92344024	92344024	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr14:92344024C>T	ENST00000342058.4	-	10	1585	c.992G>A	c.(991-993)cGc>cAc	p.R331H	FBLN5_ENST00000556961.1_5'Flank|FBLN5_ENST00000267620.10_Missense_Mutation_p.R372H|FBLN5_ENST00000556154.1_Missense_Mutation_p.R336H	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	331	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ACACATACAGCGGCTGTGGAA	0.542																																																0			14											85	76	79					14																	92344024		2203	4300	6503	91413777	SO:0001583	missense	10516			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.992G>A	14.37:g.92344024C>T	ENSP00000345008:p.Arg331His		91413777	O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	CCDS9898.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.318764|3.318764	0.60524|0.60524	.|.	.|.	ENSG00000140092|ENSG00000140092	ENST00000554121|ENST00000267620;ENST00000342058;ENST00000556154	.|D;D;D	.|0.91577	.|-2.87;-1.78;-2.87	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.057080	.|0.64402	.|D	.|0.000001	D|D	0.89434|0.89434	0.6714|0.6714	M|M	0.69358|0.69358	2.11|2.11	0.58432|0.58432	D|D	0.999991|0.999991	.|B;B;B	.|0.22276	.|0.067;0.022;0.007	.|B;B;B	.|0.16289	.|0.015;0.007;0.001	D|D	0.85385|0.85385	0.1122|0.1122	5|10	.|0.56958	.|D	.|0.05	.|.	14.9567|14.9567	0.71120|0.71120	0.0:0.9326:0.0:0.0674|0.0:0.9326:0.0:0.0674	.|.	.|372;336;331	.|G3XA98;G3V4U0;Q9UBX5	.|.;.;FBLN5_HUMAN	T|H	40|372;331;336	.|ENSP00000267620:R372H;ENSP00000345008:R331H;ENSP00000451982:R336H	.|ENSP00000267620:R428H	A|R	-|-	1|2	0|0	FBLN5|FBLN5	91413777|91413777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	2.572000|2.572000	0.45999|0.45999	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.542	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			T	92344024	C	T	92344024	3	4	175	1	0	0	0	0	1	0	0	0	5700	768	27	1	362	1	FBLN5	14	92344024	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	46698510	92344024	15005516	57	9970											
NARG2	79664	genome.wustl.edu	37	15	60740277	60740277	+	Silent	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr15:60740277A>G	ENST00000261520.4	-	11	2421	c.2187T>C	c.(2185-2187)aaT>aaC	p.N729N	NARG2_ENST00000439632.1_Silent_p.N592N	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TATAAACAAAATTTCCTTCCT	0.363																																																0			15											98	94	95					15																	60740277		2203	4300	6503	58527569	SO:0001819	synonymous_variant	79664																														ENST00000261520.4:c.2187T>C	15.37:g.60740277A>G			58527569		Silent	SNP	ENST00000261520.4	37	CCDS10176.1																																																																																				0.363	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			G	60740277	A	G	60740277	2	3	175	1	0	0	0	0	0	0	0	1	10169	98	4	4		4	NARG2	15	60740277	Silent	SNP	A	TCGA-23-1029-01B-01W-0639-09		60740277	41791115	58	9971											
SPG21	51324	genome.wustl.edu	37	15	65261653	65261653	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr15:65261653T>C	ENST00000204566.2	-	7	903	c.608A>G	c.(607-609)aAt>aGt	p.N203S	SPG21_ENST00000433215.2_Missense_Mutation_p.N203S|SPG21_ENST00000416889.2_Missense_Mutation_p.N176S|SPG21_ENST00000559199.1_Missense_Mutation_p.N49S	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	203					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						ATTTTGACAATTCAAGGTAAG	0.328																																																0			15											106	111	109					15																	65261653		2202	4299	6501	63048706	SO:0001583	missense	51324			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"maspardin"	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.608A>G	15.37:g.65261653T>C	ENSP00000204566:p.Asn203Ser		63048706	B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836343	0.91117	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.66815	-0.23;-0.23;-0.23	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.79351	-0.1839	10	0.08381	T	0.77	-13.526	15.2533	0.73564	0.0:0.0:0.0:1.0	.	176;203	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	S	203;176;203	ENSP00000204566:N203S;ENSP00000394846:N176S;ENSP00000404111:N203S	ENSP00000204566:N203S	N	-	2	0	SPG21	63048706	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.673000	0.83973	2.271000	0.75665	0.528000	0.53228	AAT		0.328	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		C	65261653	T	C	65261653	3	2	175	1	0	0	0	0	1	0	0	0	15045	1493	52	4	330	4	SPG21	15	65261653	Missense_Mutation	SNP	T	TCGA-23-1029-01B-01W-0639-09	4521376	65261653	37269739	59	9972											
LRRK1	79705	genome.wustl.edu	37	15	101595398	101595398	+	Silent	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr15:101595398G>A	ENST00000388948.3	+	27	4661	c.4302G>A	c.(4300-4302)gaG>gaA	p.E1434E	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.E1431E	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGCCCCAGAGATCAGGCCTC	0.602																																																0			15											50	50	50					15																	101595398		1975	4145	6120	99412921	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4302G>A	15.37:g.101595398G>A			99412921		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101595398	G	A	101595398	2	1	175	1	0	0	0	0	0	0	0	1	9032	933	33	2		2	LRRK1	15	101595398	Silent	SNP	G	TCGA-23-1029-01B-01W-0639-09	36333745	101595398	935994	60	9973											
TEKT5	146279	genome.wustl.edu	37	16	10788177	10788183	+	Frame_Shift_Del	DEL	CAGTTCA	CAGTTCA	-	rs201673586|rs148458964		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	CAGTTCA	CAGTTCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr16:10788177_10788183delCAGTTCA	ENST00000283025.2	-	1	619_625	c.548_554delTGAACTG	c.(547-555)gtgaactgcfs	p.VNC183fs	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	183						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTGCAATGGGCAGTTCACCTCATTGGC	0.57																																																0			16																																								10695684	SO:0001589	frameshift_variant	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.548_554delTGAACTG	16.37:g.10788177_10788183delCAGTTCA	ENSP00000283025:p.Val183fs		10695678	A1L3Z3	Frame_Shift_Del	DEL	ENST00000283025.2	37	CCDS10542.1																																																																																				0.57	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		-	10788183	CAGTTCA	-	10788177	7	5	175	1	0	1	0	1	0	0	0	0	15756	710	25	0	931	0	TEKT5	16	10788177	Frame_Shift_Del	DEL	CAGTTCA	TCGA-23-1029-01B-01W-0639-09		10788177	79566576	61	9974											
DNAH3	55567	genome.wustl.edu	37	16	21132167	21132167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr16:21132167G>T	ENST00000261383.3	-	11	1592	c.1593C>A	c.(1591-1593)taC>taA	p.Y531*	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Y531*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	531	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAAGTGGTATGTATTTCAGCT	0.502																																																0			16											112	92	99					16																	21132167		2201	4300	6501	21039668	SO:0001587	stop_gained	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1593C>A	16.37:g.21132167G>T	ENSP00000261383:p.Tyr531*		21039668	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437132	0.83885	.	.	ENSG00000158486	ENST00000544558;ENST00000261383;ENST00000415178	.	.	.	3.45	1.41	0.22369	.	1.562080	0.03697	N	0.248041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.4116	0.11436	0.1203:0.0:0.6611:0.2186	.	.	.	.	X	82;531;531	.	ENSP00000261383:Y531X	Y	-	3	2	DNAH3	21039668	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.424000	0.21330	0.430000	0.26230	-0.208000	0.12717	TAC		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21132167	G	T	21132167	4	4	175	1	0	0	0	0	0	1	0	0	4603	1372	48	3	10964	3	DNAH3	16	21132167	Nonsense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	10343990	21132167	69222586	62	9975											
FAM65A	79567	genome.wustl.edu	37	16	67576753	67576753	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr16:67576753C>T	ENST00000379312.3	+	13	2197	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Silent_p.S708S|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Silent_p.S688S|FAM65A_ENST00000428437.2_Silent_p.S702S|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Silent_p.S708S	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	692	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTACCCTCTCCAGCCCCTCCA	0.572																																																0			16											203	212	209					16																	67576753		2198	4300	6498	66134254	SO:0001819	synonymous_variant	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2076C>T	16.37:g.67576753C>T			66134254	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729548	0.30684	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.25	1.08	0.20341	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.5387	5.6557	0.17640	0.146:0.63:0.0:0.224	.	.	.	.	X	683	.	.	Q	+	1	0	FAM65A	66134254	0.003000	0.15002	0.936000	0.37596	0.159000	0.22180	0.321000	0.19558	0.614000	0.30107	-0.384000	0.06662	CAG		0.572	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		T	67576753	C	T	67576753	2	4	175	1	0	0	0	0	0	0	0	1	5599	581	21	2		2	FAM65A	16	67576753	Silent	SNP	C	TCGA-23-1029-01B-01W-0639-09	46444586	67576753	22778000	63	9976											
TP53	7157	genome.wustl.edu	37	17	7577529	7577529	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr17:7577529A>C	ENST00000269305.4	-	7	941	c.752T>G	c.(751-753)aTc>aGc	p.I251S	TP53_ENST00000359597.4_Missense_Mutation_p.I251S|TP53_ENST00000413465.2_Missense_Mutation_p.I251S|TP53_ENST00000455263.2_Missense_Mutation_p.I251S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.I251S|TP53_ENST00000445888.2_Missense_Mutation_p.I251S	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	251	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I251S(11)|p.I251N(10)|p.0?(8)|p.I251T(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)|p.I251fs*13(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)	GATGGTGAGGATGGGCCTCCG	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	50	Substitution - Missense(25)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(6)|stomach(6)|haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(5)|oesophagus(4)|liver(4)|bone(4)|breast(4)|central_nervous_system(3)|prostate(3)|ovary(2)|thyroid(1)|soft_tissue(1)|skin(1)	17											153	111	125					17																	7577529		2203	4300	6503	7518254	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.752T>G	17.37:g.7577529A>C	ENSP00000269305:p.Ile251Ser		7518254	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	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713126	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0	D	0.96495	0.9367	10	0.87932	D	0	-1.7057	12.3101	0.54924	1.0:0.0:0.0:0.0	.	251;251;251;251;251	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	251;251;251;251;251;251;240;119	ENSP00000410739:I251S;ENSP00000352610:I251S;ENSP00000269305:I251S;ENSP00000398846:I251S;ENSP00000391127:I251S;ENSP00000391478:I251S;ENSP00000425104:I119S	ENSP00000269305:I251S	I	-	2	0	TP53	7518254	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577529	A	C	7577529	3	2	175	1	0	0	0	0	1	0	0	0	16381	333	12	5	538	5	TP53	17	7577529	Missense_Mutation	SNP	A	TCGA-23-1029-01B-01W-0639-09		7577529	73617681	64	9977											
GPR142	350383	genome.wustl.edu	37	17	72368475	72368475	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr17:72368475C>T	ENST00000335666.4	+	4	1173	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	375						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F375F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCCGGGTCTTCGTCATGCTCT	0.662																																																1	Substitution - coding silent(1)	large_intestine(1)	17											116	98	104					17																	72368475		2203	4300	6503	69880070	SO:0001819	synonymous_variant	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1125C>T	17.37:g.72368475C>T			69880070	A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	CCDS11698.1																																																																																				0.662	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		T	72368475	C	T	72368475	2	4	175	1	0	0	0	0	0	0	0	1	6650	883	31	1		1	GPR142	17	72368475	Silent	SNP	C	TCGA-23-1029-01B-01W-0639-09	64790946	72368475	8826735	65	9978											
C17orf28	283987	genome.wustl.edu	37	17	72959930	72959930	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr17:72959930T>G	ENST00000425042.2	-	3	369	c.292A>C	c.(292-294)Agc>Cgc	p.S98R	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	98					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AGCAGCCGGCTGCAGTTCAGG	0.657																																																0			17											54	48	50					17																	72959930		2203	4300	6503	70471525	SO:0001583	missense	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.292A>C	17.37:g.72959930T>G	ENSP00000413520:p.Ser98Arg		70471525	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119301	0.56505	.	.	ENSG00000167861	ENST00000425042;ENST00000534480	.	.	.	4.83	3.63	0.41609	.	0.286719	0.37623	N	0.002005	T	0.30070	0.0753	N	0.14661	0.345	0.35509	D	0.800495	B;B	0.31752	0.338;0.096	B;B	0.36134	0.109;0.218	T	0.41893	-0.9483	9	0.72032	D	0.01	-31.9497	6.3573	0.21408	0.2245:0.0795:0.0:0.696	.	98;98	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	R	98	.	ENSP00000413520:S98R	S	-	1	0	C17orf28	70471525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.762000	0.47597	1.819000	0.53055	0.528000	0.53228	AGC		0.657	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		G	72959930	T	G	72959930	3	3	175	1	0	0	0	0	1	0	0	0	1853	1580	55	5	2142	5	C17orf28	17	72959930	Missense_Mutation	SNP	T	TCGA-23-1029-01B-01W-0639-09	591455	72959930	8235280	66	9979											
LAMA1	284217	genome.wustl.edu	37	18	7023221	7023221	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr18:7023221G>C	ENST00000389658.3	-	19	2736	c.2643C>G	c.(2641-2643)caC>caG	p.H881Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	881	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCTTTCACAGTGGGCGCCAT	0.607																																																0			18											94	71	79					18																	7023221		2203	4300	6503	7013221	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2643C>G	18.37:g.7023221G>C	ENSP00000374309:p.His881Gln		7013221		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109014	0.56398	.	.	ENSG00000101680	ENST00000389658	T	0.61392	0.11	5.47	3.65	0.41850	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	L	0.41079	1.255	0.44852	D	0.997864	D	0.56287	0.975	P	0.57720	0.826	T	0.55611	-0.8114	10	0.41790	T	0.15	.	8.687	0.34243	0.2936:0.0:0.7064:0.0	.	881	P25391	LAMA1_HUMAN	Q	881	ENSP00000374309:H881Q	ENSP00000374309:H881Q	H	-	3	2	LAMA1	7013221	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	1.344000	0.33941	0.659000	0.30945	0.643000	0.83706	CAC		0.607	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		C	7023221	G	C	7023221	3	2	175	1	0	0	0	0	1	0	0	0	8605	1020	36	3	6764	3	LAMA1	18	7023221	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09		7023221	71054027	67	9980											
TTC39C	125488	genome.wustl.edu	37	18	21698196	21698196	+	Splice_Site	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr18:21698196G>C	ENST00000317571.3	+	8	1422	c.1186G>C	c.(1186-1188)Gtt>Ctt	p.V396L	TTC39C_ENST00000540918.2_Splice_Site_p.V89L|TTC39C_ENST00000304621.6_Splice_Site_p.V335L|RP11-799B12.2_ENST00000583782.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	396										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CTTGACTGCAGGTGAGTCGCC	0.493																																																0			18											101	89	93					18																	21698196		2203	4300	6503	19952194	SO:0001630	splice_region_variant	125488			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1186+1G>C	18.37:g.21698196G>C			19952194	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121708	0.56613	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.44482	0.92;0.92;0.92	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	L	0.52011	1.625	0.80722	D	1	P	0.38827	0.649	B	0.37692	0.256	T	0.26087	-1.0113	10	0.36615	T	0.2	-1.2893	18.0387	0.89313	0.0:0.0:1.0:0.0	.	396	Q8N584	TT39C_HUMAN	L	335;396;89	ENSP00000306598:V335L;ENSP00000323645:V396L;ENSP00000443016:V89L	ENSP00000306598:V335L	V	+	1	0	TTC39C	19952194	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.343000	0.79319	2.544000	0.85801	0.655000	0.94253	GTT		0.493	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211	Missense_Mutation	C	21698196	G	C	21698196	5	2	175	1	0	0	0	0	0	0	1	0	16709	1014	35	3	1216	3	TTC39C	18	21698196	Splice_Site	SNP	G	TCGA-23-1029-01B-01W-0639-09	14674975	21698196	56379052	68	9981											
CDH2	1000	genome.wustl.edu	37	18	25532156	25532156	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr18:25532156G>C	ENST00000269141.3	-	16	3105	c.2682C>G	c.(2680-2682)ttC>ttG	p.F894L	CDH2_ENST00000399380.3_Missense_Mutation_p.F863L|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	894					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAAGTTTCTTGAACCGTGGCC	0.468																																																0			18											126	117	120					18																	25532156		2203	4300	6503	23786154	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2682C>G	18.37:g.25532156G>C	ENSP00000269141:p.Phe894Leu		23786154	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674652	0.67928	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	D;D	0.85556	-2.0;-2.0	5.43	5.43	0.79202	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.90977	3.165	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.992	D	0.95175	0.8294	10	0.87932	D	0	.	19.2485	0.93913	0.0:0.0:1.0:0.0	.	863;894	A8MWK3;P19022	.;CADH2_HUMAN	L	894;863	ENSP00000269141:F894L;ENSP00000382312:F863L	ENSP00000269141:F894L	F	-	3	2	CDH2	23786154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.240000	0.58701	2.563000	0.86464	0.591000	0.81541	TTC		0.468	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		C	25532156	G	C	25532156	3	2	175	1	0	0	0	0	1	0	0	0	3105	1281	45	3	42	3	CDH2	18	25532156	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09	3833960	25532156	52545092	69	9982											
PRAM1	84106	genome.wustl.edu	37	19	8564363	8564363	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:8564363G>T	ENST00000423345.4	-	2	849	c.329C>A	c.(328-330)cCt>cAt	p.P110H	PRAM1_ENST00000255612.3_Missense_Mutation_p.P110H			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	158	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGTGACCTCAGGCGGCGGGGG	0.642																																																0			19											55	57	57					19																	8564363		1616	3695	5311	8470363	SO:0001583	missense	84106			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.329C>A	19.37:g.8564363G>T	ENSP00000408342:p.Pro110His		8470363	Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	g	15.27	2.785155	0.49997	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.30182	1.54;1.54	4.11	2.98	0.34508	.	0.000000	0.41712	D	0.000836	T	0.47820	0.1466	M	0.75264	2.295	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.947	T	0.26224	-1.0109	10	0.87932	D	0	.	5.3255	0.15905	0.1122:0.2085:0.6793:0.0	.	110;158	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	H	110	ENSP00000255612:P110H;ENSP00000408342:P110H	ENSP00000255612:P110H	P	-	2	0	PRAM1	8470363	0.011000	0.17503	0.228000	0.23943	0.163000	0.22366	1.524000	0.35942	2.283000	0.76528	0.586000	0.80456	CCT		0.642	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		T	8564363	G	T	8564363	3	4	175	1	0	0	0	0	1	0	0	0	12426	1000	35	3	1716	3	PRAM1	19	8564363	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09		8564363	50564620	70	9983											
ZNF676	163223	genome.wustl.edu	37	19	22363142	22363142	+	Silent	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:22363142G>T	ENST00000397121.2	-	3	1694	c.1377C>A	c.(1375-1377)acC>acA	p.T459T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGAGGACCAGGTGAAGGCTT	0.433																																																0			19											124	128	127					19																	22363142		2147	4265	6412	22154982	SO:0001819	synonymous_variant	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1377C>A	19.37:g.22363142G>T			22154982	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		T	22363142	G	T	22363142	2	4	175	1	0	0	0	0	0	0	0	1	18083	987	35	3		3	ZNF676	19	22363142	Silent	SNP	G	TCGA-23-1029-01B-01W-0639-09	13798779	22363142	36765841	71	9984											
NCCRP1	342897	genome.wustl.edu	37	19	39691103	39691103	+	Silent	SNP	A	A	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:39691103A>T	ENST00000339852.4	+	5	688	c.666A>T	c.(664-666)ggA>ggT	p.G222G		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	222	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CTGGGAGAGGACCCCCTGGCC	0.657																																					Melanoma(107;1207 1556 14956 29427 52130)											0			19											53	62	59					19																	39691103		2203	4298	6501	44382943	SO:0001819	synonymous_variant	342897			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.666A>T	19.37:g.39691103A>T			44382943	Q6NVV5	Silent	SNP	ENST00000339852.4	37	CCDS12529.1																																																																																				0.657	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		T	39691103	A	T	39691103	2	4	175	1	0	0	0	0	0	0	0	1	10213	262	10	5		5	NCCRP1	19	39691103	Silent	SNP	A	TCGA-23-1029-01B-01W-0639-09	17327961	39691103	19437880	72	9985											
ZNF225	7768	genome.wustl.edu	37	19	44635843	44635843	+	Frame_Shift_Del	DEL	T	T	-			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:44635843delT	ENST00000262894.6	+	5	1356	c.1076delT	c.(1075-1077)cttfs	p.L359fs	ZNF225_ENST00000590612.1_Frame_Shift_Del_p.L359fs|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGGCAAGATCTTTATAAGCAT	0.428																																																0			19											95	103	100					19																	44635843		2190	4291	6481	49327683	SO:0001589	frameshift_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1076delT	19.37:g.44635843delT	ENSP00000262894:p.Leu359fs		49327683	A8K8S2|Q53F12|Q9NS46|Q9UID8	Frame_Shift_Del	DEL	ENST00000262894.6	37	CCDS46100.1																																																																																				0.428	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			-	44635843	T	-	44635843	7	5	175	1	0	1	0	1	0	0	0	0	17779	1609	56	0	1090	0	ZNF225	19	44635843	Frame_Shift_Del	DEL	T	TCGA-23-1029-01B-01W-0639-09	4944740	44635843	14493140	73	9986											
ZNF772	400720	genome.wustl.edu	37	19	57984796	57984796	+	Missense_Mutation	SNP	C	C	A	rs375447706		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:57984796C>A	ENST00000343280.4	-	5	1576	c.1316G>T	c.(1315-1317)tGt>tTt	p.C439F	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.C327F|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.C398F|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GGCTTTTCCACATTCACTGCA	0.428																																					Melanoma(5;289 436 14293 15924 30817)											0			19											116	101	106					19																	57984796		2203	4300	6503	62676608	SO:0001583	missense	400720			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1316G>T	19.37:g.57984796C>A	ENSP00000341165:p.Cys439Phe		62676608	A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578940	0.65878	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	D;D;D	0.85861	-2.04;-2.04;-2.04	3.72	3.72	0.42706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93648	0.7971	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.997	D	0.94925	0.8077	9	0.87932	D	0	.	13.0178	0.58768	0.0:1.0:0.0:0.0	.	327;398;439	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	F	439;327;398;364	ENSP00000341165:C439F;ENSP00000395967:C327F;ENSP00000348992:C398F	ENSP00000291809:C364F	C	-	2	0	ZNF772	62676608	1.000000	0.71417	0.982000	0.44146	0.882000	0.50991	6.500000	0.73687	1.917000	0.55516	0.305000	0.20034	TGT		0.428	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		A	57984796	C	A	57984796	3	1	175	1	0	0	0	0	1	0	0	0	18145	478	17	3	157	3	ZNF772	19	57984796	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	13348953	57984796	1144187	74	9987											
NRSN2	80023	genome.wustl.edu	37	20	334082	334082	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:334082G>T	ENST00000382291.3	+	4	658	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Missense_Mutation_p.G140C	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	140						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GGCCATGATAGGCTGGCTGAG	0.637																																																0			20											58	53	54					20																	334082		2203	4300	6503	282082	SO:0001583	missense	80023			AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"chromosome 20 open reading frame 98"	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.418G>T	20.37:g.334082G>T	ENSP00000371728:p.Gly140Cys		282082	A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235555	0.39498	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.17854	2.25;2.25	4.66	0.194	0.15143	.	0.471157	0.19173	N	0.120886	T	0.25754	0.0627	L	0.59436	1.845	0.19775	N	0.99996	D	0.56746	0.977	P	0.57548	0.823	T	0.05305	-1.0893	10	0.72032	D	0.01	-18.6503	6.2757	0.20979	0.4567:0.0:0.5433:0.0	.	140	Q9GZP1	NRSN2_HUMAN	C	140	ENSP00000371728:G140C;ENSP00000371722:G140C	ENSP00000371722:G140C	G	+	1	0	NRSN2	282082	0.178000	0.23122	0.221000	0.23827	0.365000	0.29674	0.323000	0.19593	0.204000	0.20548	0.643000	0.83706	GGC		0.637	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		T	334082	G	T	334082	3	4	175	1	0	0	0	0	1	0	0	0	10663	1000	35	3	424	3	NRSN2	20	334082	Missense_Mutation	SNP	G	TCGA-23-1029-01B-01W-0639-09		334082	62691438	75	9988											
CST4	1472	genome.wustl.edu	37	20	23667727	23667727	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:23667727T>G	ENST00000217423.3	-	2	410	c.340A>C	c.(340-342)Aag>Cag	p.K114Q		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	114					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAACGTACCTTCTGCAGTTCT	0.567																																																0			20											205	164	178					20																	23667727		2203	4300	6503	23615727	SO:0001583	missense	1472				CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.340A>C	20.37:g.23667727T>G	ENSP00000217423:p.Lys114Gln		23615727	Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	CCDS13159.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930441	0.34096	.	.	ENSG00000101441	ENST00000217423	T	0.25085	1.82	1.94	0.826	0.18829	Proteinase inhibitor I25, cystatin (2);	0.470225	0.21911	U	0.067313	T	0.20210	0.0486	L	0.46567	1.45	0.09310	N	1	B	0.33528	0.416	B	0.38921	0.285	T	0.11817	-1.0572	10	0.40728	T	0.16	.	3.4618	0.07536	0.0:0.2185:0.0:0.7815	.	114	P01036	CYTS_HUMAN	Q	114	ENSP00000217423:K114Q	ENSP00000217423:K114Q	K	-	1	0	CST4	23615727	0.010000	0.17322	0.024000	0.17045	0.567000	0.35839	0.672000	0.25187	0.218000	0.20820	0.172000	0.16884	AAG		0.567	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		G	23667727	T	G	23667727	3	3	175	1	0	0	0	0	1	0	0	0	3974	1792	62	5	93	5	CST4	20	23667727	Missense_Mutation	SNP	T	TCGA-23-1029-01B-01W-0639-09	23333645	23667727	39357793	76	9989											
TM9SF4	9777	genome.wustl.edu	37	20	30753128	30753128	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:30753128C>T	ENST00000398022.2	+	18	2045	c.1810C>T	c.(1810-1812)Ctc>Ttc	p.L604F	TM9SF4_ENST00000217315.5_Missense_Mutation_p.L587F	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	604						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCCTCTCTCCTCTACTTTGG	0.562																																																0			20											295	205	236					20																	30753128		2203	4300	6503	30216789	SO:0001583	missense	9777			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1810C>T	20.37:g.30753128C>T	ENSP00000381104:p.Leu604Phe		30216789	B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537459	0.85917	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.53857	1.18;0.6	4.66	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	L	0.49513	1.565	0.80722	D	1	P;D	0.76494	0.78;0.999	P;D	0.71184	0.565;0.972	T	0.68078	-0.5504	10	0.87932	D	0	-22.8226	13.2974	0.60305	0.0:0.9212:0.0:0.0788	.	511;604	B4DH88;Q92544	.;TM9S4_HUMAN	F	604;587	ENSP00000381104:L604F;ENSP00000217315:L587F	ENSP00000217315:L587F	L	+	1	0	TM9SF4	30216789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.782000	0.62396	2.404000	0.81709	0.561000	0.74099	CTC		0.562	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		T	30753128	C	T	30753128	3	4	175	1	0	0	0	0	1	0	0	0	15980	681	24	2	1880	2	TM9SF4	20	30753128	Missense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09	7085401	30753128	32272392	77	9990											
SLC12A5	57468	genome.wustl.edu	37	20	44682246	44682246	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:44682246C>T	ENST00000454036.2	+	20	2695	c.2646C>T	c.(2644-2646)ttC>ttT	p.F882F	SLC12A5_ENST00000243964.3_Silent_p.F859F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	882					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGTATCTTCACTGTGGCCC	0.532																																																0			20											219	171	187					20																	44682246		2203	4300	6503	44115653	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2646C>T	20.37:g.44682246C>T			44115653	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	CCDS46610.1																																																																																				0.532	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44682246	C	T	44682246	2	4	175	1	0	0	0	0	0	0	0	1	14389	825	29	2		2	SLC12A5	20	44682246	Silent	SNP	C	TCGA-23-1029-01B-01W-0639-09	13929118	44682246	18343274	78	9991											
BCAS1	8537	genome.wustl.edu	37	20	52675234	52675234	+	Silent	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:52675234G>T	ENST00000395961.3	-	2	190	c.24C>A	c.(22-24)ccC>ccA	p.P8P	BCAS1_ENST00000371435.2_Silent_p.P8P|BCAS1_ENST00000411563.1_Intron|BCAS1_ENST00000371440.3_Silent_p.P8P	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	8						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAACTCTTTGGGGAACACTCA	0.393																																																0			20											178	181	180					20																	52675234		2203	4300	6503	52108641	SO:0001819	synonymous_variant	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.24C>A	20.37:g.52675234G>T			52108641	A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	CCDS13444.1																																																																																				0.393	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		T	52675234	G	T	52675234	2	4	175	1	0	0	0	0	0	0	0	1	1350	1219	43	3		3	BCAS1	20	52675234	Silent	SNP	G	TCGA-23-1029-01B-01W-0639-09	7992988	52675234	10350286	79	9992											
CLDN17	26285	genome.wustl.edu	37	21	31538578	31538578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr21:31538578C>A	ENST00000286808.3	-	1	393	c.358G>T	c.(358-360)Gga>Tga	p.G120*		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	120					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CCTGAAGTTCCCAGAAGGTAT	0.517																																																0			21											85	85	85					21																	31538578		2203	4300	6503	30460449	SO:0001587	stop_gained	26285			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"Claudins"	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.358G>T	21.37:g.31538578C>A	ENSP00000286808:p.Gly120*		30460449	Q3MJB5|Q6UY37	Nonsense_Mutation	SNP	ENST00000286808.3	37	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550480	0.86127	.	.	ENSG00000156282	ENST00000286808	.	.	.	4.69	3.78	0.43462	.	0.136127	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.5621	0.56288	0.3479:0.652:0.0:0.0	.	.	.	.	X	120	.	ENSP00000286808:G120X	G	-	1	0	CLDN17	30460449	0.033000	0.19621	0.977000	0.42913	0.939000	0.58152	0.509000	0.22707	1.534000	0.49203	0.655000	0.94253	GGA		0.517	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		A	31538578	C	A	31538578	4	1	175	1	0	0	0	0	0	1	0	0	3478	632	22	3	320	3	CLDN17	21	31538578	Nonsense_Mutation	SNP	C	TCGA-23-1029-01B-01W-0639-09		31538578	16591317	80	9993											
KCTD17	79734	genome.wustl.edu	37	22	37458586	37458586	+	Silent	SNP	C	C	T	rs116956945	byFrequency	TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr22:37458586C>T	ENST00000403888.3	+	9	919	c.918C>T	c.(916-918)ccC>ccT	p.P306P	KCTD17_ENST00000402077.3_Silent_p.P282P	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	306	Pro-rich.				protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						CAGAGGCACCCGGATGTGAGG	0.587													C|||	106	0.0211661	0.0045	0.0259	5008	,	,		12259	0.001		0.0447	False		,,,				2504	0.0368															0			22						C		42,4364	44.6+/-78.6	0,42,2161	55	56	55		846	1.5	1	22	dbSNP_132	55	472,8128	134.3+/-191.7	15,442,3843	no	coding-synonymous	KCTD17	NM_024681.2		15,484,6004	TT,TC,CC		5.4884,0.9532,3.952		282/298	37458586	514,12492	2203	4300	6503	35788532	SO:0001819	synonymous_variant	79734			BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 17"			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.918C>T	22.37:g.37458586C>T			35788532	B0QYA9|B0QYB0|O95517	Silent	SNP	ENST00000403888.3	37																																																																																					0.587	KCTD17-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318781.1	NM_024681		T	37458586	C	T	37458586	2	4	175	1	0	0	0	0	0	0	0	1	8104	639	23	1		1	KCTD17	22	37458586	Silent	SNP	C	TCGA-23-1029-01B-01W-0639-09		37458586	13845980	81	9994											
ENTHD1	150350	genome.wustl.edu	37	22	40257812	40257812	+	Nonsense_Mutation	SNP	T	T	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr22:40257812T>A	ENST00000325157.6	-	3	800	c.550A>T	c.(550-552)Aag>Tag	p.K184*		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	184										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTATACTTCTTCTCTGAAGCA	0.363																																																0			22											58	61	60					22																	40257812		2203	4300	6503	38587758	SO:0001587	stop_gained	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.550A>T	22.37:g.40257812T>A	ENSP00000317431:p.Lys184*		38587758	B0QYD5|Q5H9F7|Q96LK3	Nonsense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	T	39	7.774816	0.98483	.	.	ENSG00000176177	ENST00000325157	.	.	.	6.17	6.17	0.99709	.	0.773311	0.12216	N	0.488782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4876	13.214	0.59844	0.0:0.0:0.0:1.0	.	.	.	.	X	184	.	ENSP00000317431:K184X	K	-	1	0	ENTHD1	38587758	1.000000	0.71417	0.793000	0.32043	0.891000	0.51852	1.659000	0.37387	2.371000	0.80710	0.533000	0.62120	AAG		0.363	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		A	40257812	T	A	40257812	4	1	175	1	0	0	0	0	0	1	0	0	5137	1792	62	5	1293	5	ENTHD1	22	40257812	Nonsense_Mutation	SNP	T	TCGA-23-1029-01B-01W-0639-09	2799226	40257812	11046754	82	9995											
L1TD1	54596	broad.mit.edu	37	1	62675768	62675768	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr1:62675768A>G	ENST00000498273.1	+	4	1617	c.1322A>G	c.(1321-1323)gAa>gGa	p.E441G	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	441	Glu-rich.							p.E441G(1)|p.E441V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CAGACTTCAGAACAGGACTCA	0.493																																																2	Substitution - Missense(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	1											72	68	69					1																	62675768		2203	4300	6503	62448356	SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1322A>G	1.37:g.62675768A>G	ENSP00000419901:p.Glu441Gly		62448356	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569768	0.28003	.	.	ENSG00000240563	ENST00000498273	T	0.15952	2.38	1.53	-3.07	0.05363	.	.	.	.	.	T	0.08313	0.0207	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.29971	-0.9994	9	0.48119	T	0.1	.	0.229	0.00177	0.2447:0.1972:0.1663:0.3918	.	441	Q5T7N2	LITD1_HUMAN	G	441	ENSP00000419901:E441G	ENSP00000419901:E441G	E	+	2	0	L1TD1	62448356	0.005000	0.15991	0.000000	0.03702	0.673000	0.39480	0.035000	0.13797	-1.938000	0.01046	0.172000	0.16884	GAA		0.493	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		G	62675768	A	G	62675768	3	3	176	1	0	0	0	0	1	0	0	0	8589	246	9	4	1328	4	L1TD1	1	62675768	Missense_Mutation	SNP	A	TCGA-23-1030-01A-02W-0486-08		62675768	186574853	1	9996											
CLCA4	22802	broad.mit.edu	37	1	87031502	87031502	+	Silent	SNP	C	C	T	rs199899112		TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr1:87031502C>T	ENST00000370563.3	+	6	795	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	251					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.N251N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATTTTGTAACGAAAAAACCC	0.269													C|||	1	0.000199681	8e-04	0	5008	,	,		16264	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1						C		1,3603		0,1,1801	62	55	57		753	-1.6	0.1	1		57	0,8132		0,0,4066	no	coding-synonymous	CLCA4	NM_012128.3		0,1,5867	TT,TC,CC		0.0,0.0277,0.0085		251/920	87031502	1,11735	1802	4066	5868	86804090	SO:0001819	synonymous_variant	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.753C>T	1.37:g.87031502C>T			86804090	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	CCDS41355.1																																																																																				0.269	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		T	87031502	C	T	87031502	2	4	176	1	0	0	0	0	0	0	0	1	3459	535	19	1		1	CLCA4	1	87031502	Silent	SNP	C	TCGA-23-1030-01A-02W-0486-08	24355734	87031502	162219119	2	9997											
CCDC76	54482	broad.mit.edu	37	1	100613448	100613448	+	Splice_Site	SNP	A	A	C			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr1:100613448A>C	ENST00000370141.2	+	10	823		c.e10-1			NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)						tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.?(1)									TTGTGTTTGCAGATCTTGCAT	0.328																																																1	Unknown(1)	ovary(1)	1											54	55	55					1																	100613448		2201	4300	6501	100386036	SO:0001630	splice_region_variant	54482			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.818-1A>C	1.37:g.100613448A>C			100386036	Q5VVL0|Q9NW65	Splice_Site	SNP	ENST00000370141.2	37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	.	17.61	3.433052	0.62844	.	.	ENSG00000122435	ENST00000370141	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9199	0.79556	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC76	100386036	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.680000	0.84062	2.161000	0.67846	0.533000	0.62120	.		0.328	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083	Intron	C	100613448	A	C	100613448	5	2	176	1	0	0	0	0	0	0	1	0	2850	202	7	5	854	5	CCDC76	1	100613448	Splice_Site	SNP	A	TCGA-23-1030-01A-02W-0486-08	13581946	100613448	148637173	3	9998											
SCAMP3	10067	broad.mit.edu	37	1	155227416	155227416	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr1:155227416C>T	ENST00000302631.3	-	6	657	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SCAMP3_ENST00000355379.3_Missense_Mutation_p.A158T|FAM189B_ENST00000472550.1_5'Flank|SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000350210.2_5'Flank|FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000361361.2_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	184					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.A184T(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)			GCCAGGCAGGCGAGGAAGTTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											41	41	41					1																	155227416		2197	4298	6495	153494040	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.550G>A	1.37:g.155227416C>T	ENSP00000307275:p.Ala184Thr		153494040	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.140292	0.77775	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.20881	2.04;2.04	4.92	4.92	0.64577	.	0.059356	0.64402	D	0.000002	T	0.24198	0.0586	L	0.55990	1.75	0.46981	D	0.99927	P;P;D	0.64830	0.817;0.879;0.994	B;B;P	0.55965	0.41;0.329;0.788	T	0.00715	-1.1597	10	0.56958	D	0.05	-14.4334	12.7333	0.57210	0.1649:0.8351:0.0:0.0	.	184;158;184	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	T	184;158	ENSP00000307275:A184T;ENSP00000347540:A158T	ENSP00000307275:A184T	A	-	1	0	SCAMP3	153494040	0.977000	0.34250	0.999000	0.59377	0.994000	0.84299	2.555000	0.45854	2.554000	0.86153	0.561000	0.74099	GCC		0.567	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		T	155227416	C	T	155227416	3	4	176	1	0	0	0	0	1	0	0	0	13875	768	27	1	509	1	SCAMP3	1	155227416	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08	54613968	155227416	94023205	4	9999											
NAT8B	0	broad.mit.edu	37	2	73927939	73927939	+	IGR	SNP	G	G	A			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr2:73927939G>A								ALMS1P (15236 upstream) : TPRKB (29017 downstream)																							CTAGTCCCGGGCAAACTGGAG	0.567																																																0			2											63	69	67					2																	73927939		2203	4300	6503	73781447	SO:0001628	intergenic_variant	51471																															2.37:g.73927939G>A			73781447		Missense_Mutation	SNP		37																																																																																				0	0.567									A	73927939	G	A	73927939	1	1	176	0	1	0	0	0	0	0	0	0	10180	1203	42	2		2	NAT8B	2	73927939	IGR	SNP	G	TCGA-23-1030-01A-02W-0486-08		73927939	169271434	5	10000											
VGLL4	9686	broad.mit.edu	37	3	11643368	11643368	+	Nonsense_Mutation	SNP	C	C	A	rs77883256	byFrequency	TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr3:11643368C>A	ENST00000413604.1	-	2	386	c.16G>T	c.(16-18)Gag>Tag	p.E6*	VGLL4_ENST00000480288.1_5'Flank|VGLL4_ENST00000404339.1_Nonsense_Mutation_p.E70*|VGLL4_ENST00000273038.3_Nonsense_Mutation_p.E65*|VGLL4_ENST00000430365.2_Nonsense_Mutation_p.E71*			Q14135	VGLL4_HUMAN	vestigial-like family member 4	65					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E65*(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TCTAGGTCCTCGTCACCTGGC	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	3											136	128	131					3																	11643368		2203	4300	6503	11618368	SO:0001587	stop_gained	9686			D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"vestigial like 4 (Drosophila)"			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000413604.1:c.16G>T	3.37:g.11643368C>A	ENSP00000404624:p.Glu6*		11618368	B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Nonsense_Mutation	SNP	ENST00000413604.1	37		.	.	.	.	.	.	.	.	.	.	C	36	5.943076	0.97128	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000430365;ENST00000404339;ENST00000445411;ENST00000418000;ENST00000458499;ENST00000417206;ENST00000424709;ENST00000419541;ENST00000437722	.	.	.	5.33	4.44	0.53790	.	0.405259	0.29280	N	0.012618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-16.3103	13.0763	0.59089	0.0:0.9212:0.0:0.0787	.	.	.	.	X	65;6;71;70;65;65;61;65;6;65;6	.	ENSP00000273038:E65X	E	-	1	0	VGLL4	11618368	1.000000	0.71417	0.329000	0.25429	0.954000	0.61252	4.219000	0.58561	1.207000	0.43291	0.655000	0.94253	GAG		0.567	VGLL4-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000339139.2	NM_014667		A	11643368	C	A	11643368	4	1	176	1	0	0	0	0	0	1	0	0	17161	893	31	3	719	3	VGLL4	3	11643368	Nonsense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08		11643368	186379062	6	10001											
C3orf39	84892	broad.mit.edu	37	3	43121736	43121736	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr3:43121736C>T	ENST00000344697.2	-	2	1533	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	POMGNT2_ENST00000441964.1_Missense_Mutation_p.M396I	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	396					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.M396I(1)									TCTCTGGCATCATGTTCCGCC	0.592																																																1	Substitution - Missense(1)	ovary(1)	3											78	69	72					3																	43121736		2203	4300	6503	43096740	SO:0001583	missense	84892			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1188G>A	3.37:g.43121736C>T	ENSP00000344125:p.Met396Ile		43096740	B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020275	0.19433	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.76060	-0.99;-0.99	5.32	2.43	0.29744	.	0.210813	0.49305	D	0.000160	T	0.51312	0.1667	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37911	-0.9685	10	0.46703	T	0.11	-22.0436	4.2354	0.10623	0.2187:0.5175:0.1805:0.0833	.	396	Q8NAT1	AGO61_HUMAN	I	396	ENSP00000408992:M396I;ENSP00000344125:M396I	ENSP00000344125:M396I	M	-	3	0	C3orf39	43096740	0.000000	0.05858	0.267000	0.24556	0.932000	0.56968	-0.637000	0.05459	1.259000	0.44117	0.650000	0.86243	ATG		0.592	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		T	43121736	C	T	43121736	3	4	176	1	0	0	0	0	1	0	0	0	2229	826	29	2	558	2	C3orf39	3	43121736	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08	31478368	43121736	154900694	7	10002											
FLNB	2317	broad.mit.edu	37	3	58097923	58097923	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr3:58097923G>C	ENST00000295956.4	+	18	2788	c.2623G>C	c.(2623-2625)Gct>Cct	p.A875P	FLNB_ENST00000429972.2_Missense_Mutation_p.A875P|FLNB_ENST00000490882.1_Missense_Mutation_p.A875P|FLNB_ENST00000358537.3_Missense_Mutation_p.A875P|FLNB_ENST00000493452.1_Missense_Mutation_p.A706P|FLNB_ENST00000419752.2_Missense_Mutation_p.A706P|FLNB_ENST00000357272.4_Missense_Mutation_p.A875P|FLNB_ENST00000348383.5_Missense_Mutation_p.A875P	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	875					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.A875P(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACCAAGGGGGCTGGGAAAGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	3											109	112	111					3																	58097923		2203	4300	6503	58072963	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2623G>C	3.37:g.58097923G>C	ENSP00000295956:p.Ala875Pro		58072963	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279472	0.95489	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0	D	0.97698	1.0183	10	0.87932	D	0	.	18.9418	0.92608	0.0:0.0:1.0:0.0	.	875;875;706;706;875;875	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	P	875;875;875;875;875;875;706;706	ENSP00000295956:A875P;ENSP00000420213:A875P;ENSP00000351339:A875P;ENSP00000415599:A875P;ENSP00000232447:A875P;ENSP00000349819:A875P;ENSP00000418510:A706P;ENSP00000414532:A706P	ENSP00000295956:A875P	A	+	1	0	FLNB	58072963	1.000000	0.71417	0.609000	0.28983	0.982000	0.71751	9.866000	0.99616	2.488000	0.83962	0.655000	0.94253	GCT		0.498	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		C	58097923	G	C	58097923	3	2	176	1	0	0	0	0	1	0	0	0	5934	1203	42	3	2693	3	FLNB	3	58097923	Missense_Mutation	SNP	G	TCGA-23-1030-01A-02W-0486-08	14976187	58097923	139924507	8	10003											
TMPRSS7	344805	broad.mit.edu	37	3	111795730	111795730	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr3:111795730G>C	ENST00000452346.2	+	16	1966	c.1963G>C	c.(1963-1965)Gat>Cat	p.D655H	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.D529H			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	655	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D384H(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGGCTGTCAGATCCCACACC	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											172	166	168					3																	111795730		1982	4180	6162	113278420	SO:0001583	missense	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1963G>C	3.37:g.111795730G>C	ENSP00000398236:p.Asp655His		113278420	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.364284	0.82463	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.89617	-2.54;-2.54	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.92479	0.7612	L	0.42529	1.33	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.92226	0.5788	10	0.59425	D	0.04	.	17.651	0.88164	0.0:0.0:1.0:0.0	.	655;529	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	H	655;643;629;529	ENSP00000398236:D655H;ENSP00000411645:D529H	ENSP00000411645:D529H	D	+	1	0	TMPRSS7	113278420	1.000000	0.71417	0.987000	0.45799	0.837000	0.47467	6.964000	0.76061	2.906000	0.99361	0.655000	0.94253	GAT		0.448	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		C	111795730	G	C	111795730	3	2	176	1	0	0	0	0	1	0	0	0	16252	942	33	3	1635	3	TMPRSS7	3	111795730	Missense_Mutation	SNP	G	TCGA-23-1030-01A-02W-0486-08	53697807	111795730	86226700	9	10004											
UROC1	131669	broad.mit.edu	37	3	126219626	126219626	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr3:126219626C>T	ENST00000290868.2	-	11	1110	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	UROC1_ENST00000383579.3_Missense_Mutation_p.G413S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	353					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.G353S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGGTAGTAGCCGCCATTGAAC	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											106	100	102					3																	126219626		2203	4300	6503	127702316	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1057G>A	3.37:g.126219626C>T	ENSP00000290868:p.Gly353Ser		127702316	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.321938	0.81580	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.71103	-0.54;-0.54	4.94	4.07	0.47477	Urocanase domain (2);	0.109289	0.64402	D	0.000006	D	0.83464	0.5260	M	0.83774	2.66	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76575	0.97;0.988	D	0.85161	0.0992	10	0.87932	D	0	-0.3433	11.4876	0.50363	0.0:0.8183:0.1817:0.0	.	413;353	E9PE13;Q96N76	.;HUTU_HUMAN	S	353;413	ENSP00000290868:G353S;ENSP00000373073:G413S	ENSP00000290868:G353S	G	-	1	0	UROC1	127702316	1.000000	0.71417	0.854000	0.33618	0.940000	0.58332	5.594000	0.67557	1.096000	0.41439	-0.344000	0.07964	GGC		0.607	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		T	126219626	C	T	126219626	3	4	176	1	0	0	0	0	1	0	0	0	17028	652	23	1	1013	1	UROC1	3	126219626	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08	14423896	126219626	71802804	10	10005											
AMBN	258	broad.mit.edu	37	4	71472089	71472089	+	Missense_Mutation	SNP	C	C	T	rs140331879	byFrequency	TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr4:71472089C>T	ENST00000322937.6	+	13	1089	c.986C>T	c.(985-987)cCg>cTg	p.P329L	AMBN_ENST00000449493.2_Missense_Mutation_p.P314L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	329					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.P329L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCCCCTATGCCGGAGGCCAAC	0.567													C|||	20	0.00399361	0	0.0029	5008	,	,		19515	0.0169		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	4											62	61	61					4																	71472089		2203	4300	6503	71506678	SO:0001583	missense	258			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.986C>T	4.37:g.71472089C>T	ENSP00000313809:p.Pro329Leu		71506678	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	CCDS3543.1	14	0.00641025641025641	0	0.0	1	0.0027624309392265192	13	0.022727272727272728	0	0.0	C	9.225	1.034382	0.19590	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.30714	1.52;1.52	5.79	-0.696	0.11287	.	0.812013	0.11105	N	0.599212	T	0.13072	0.0317	L	0.59436	1.845	0.09310	N	0.999999	B	0.29612	0.251	B	0.27608	0.081	T	0.20638	-1.0269	10	0.59425	D	0.04	0.5528	4.3771	0.11275	0.4659:0.2914:0.0:0.2428	.	329	Q9NP70	AMBN_HUMAN	L	329;328;314	ENSP00000313809:P329L;ENSP00000391234:P314L	ENSP00000313809:P329L	P	+	2	0	AMBN	71506678	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.193000	0.17116	-0.155000	0.11098	-0.793000	0.03317	CCG		0.567	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		T	71472089	C	T	71472089	3	4	176	1	0	0	0	0	1	0	0	0	563	652	23	1	1036	1	AMBN	4	71472089	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08		71472089	119682187	11	10006											
MAST4	375449	broad.mit.edu	37	5	66448676	66448676	+	Silent	SNP	A	A	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr5:66448676A>T	ENST00000403625.2	+	25	3802	c.3507A>T	c.(3505-3507)acA>acT	p.T1169T	MAST4_ENST00000403666.1_Silent_p.T980T|MAST4_ENST00000261569.7_Silent_p.T975T|MAST4_ENST00000405643.1_Silent_p.T990T|MAST4_ENST00000404260.3_Silent_p.T1172T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1172	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.T1069T(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACATCTATACAGTGCACCATA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	5											48	47	48					5																	66448676		1974	4142	6116	66484432	SO:0001819	synonymous_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3507A>T	5.37:g.66448676A>T			66484432	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	A	5.393	0.257652	0.10239	.	.	ENSG00000069020	ENST00000443808	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.32971	0.0847	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44574	-0.9319	4	.	.	.	-22.095	3.3878	0.07278	0.2077:0.4017:0.2495:0.1411	.	.	.	.	C	226	.	.	S	+	1	0	MAST4	66484432	0.000000	0.05858	0.077000	0.20336	0.653000	0.38743	-2.778000	0.00775	-3.053000	0.00259	-1.117000	0.02048	AGT		0.498	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66448676	A	T	66448676	2	4	176	1	0	0	0	0	0	0	0	1	9327	175	7	5		5	MAST4	5	66448676	Silent	SNP	A	TCGA-23-1030-01A-02W-0486-08		66448676	114466584	12	10007											
HIST1H1T	3010	broad.mit.edu	37	6	26107987	26107987	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr6:26107987C>G	ENST00000338379.4	-	1	377	c.335G>C	c.(334-336)aGt>aCt	p.S112T		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	112	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S112T(1)		breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CACCTTCTTACTAAGCTTAAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											93	90	91					6																	26107987		2203	4300	6503	26215966	SO:0001583	missense	3010			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.335G>C	6.37:g.26107987C>G	ENSP00000341214:p.Ser112Thr		26215966	Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	12.85	2.061774	0.36373	.	.	ENSG00000187475	ENST00000338379	T	0.10477	2.87	5.38	1.3	0.21679	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.360243	0.30714	N	0.009030	T	0.06371	0.0164	L	0.60957	1.885	0.25959	N	0.982652	P	0.41569	0.755	P	0.45660	0.489	T	0.11817	-1.0572	10	0.66056	D	0.02	-19.109	8.6391	0.33966	0.0:0.5711:0.0:0.4289	.	112	P22492	H1T_HUMAN	T	112	ENSP00000341214:S112T	ENSP00000341214:S112T	S	-	2	0	HIST1H1T	26215966	0.000000	0.05858	0.614000	0.29051	0.091000	0.18340	-2.693000	0.00829	0.380000	0.24823	0.655000	0.94253	AGT		0.458	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		G	26107987	C	G	26107987	3	3	176	1	0	0	0	0	1	0	0	0	7127	565	20	3	292	3	HIST1H1T	6	26107987	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08		26107987	145007080	13	10008											
HSPA1L	3305	broad.mit.edu	37	6	31779014	31779014	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr6:31779014C>G	ENST00000375654.4	-	2	925	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E246Q	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	246					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.E246Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCTTGAACTCCTCCACGAAG	0.572																																																1	Substitution - Missense(1)	ovary(1)	6											69	71	70					6																	31779014		2203	4298	6501	31886993	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.736G>C	6.37:g.31779014C>G	ENSP00000364805:p.Glu246Gln		31886993	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605510	0.46527	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.01178	5.22;5.22	5.29	5.29	0.74685	.	0.000000	0.35067	N	0.003470	T	0.04137	0.0115	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.30446	-0.9978	10	0.87932	D	0	-3.5899	16.462	0.84059	0.0:1.0:0.0:0.0	.	246	P34931	HS71L_HUMAN	Q	246;246;191;136	ENSP00000364805:E246Q;ENSP00000387691:E246Q	ENSP00000364804:E191Q	E	-	1	0	HSPA1L	31886993	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	5.907000	0.69908	2.739000	0.93911	0.585000	0.79938	GAG		0.572	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			G	31779014	C	G	31779014	3	3	176	1	0	0	0	0	1	0	0	0	7410	864	30	3	1193	3	HSPA1L	6	31779014	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08	5671027	31779014	139336053	14	10009											
FHL5	9457	broad.mit.edu	37	6	97051519	97051519	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr6:97051519C>A	ENST00000326771.2	+	3	410	c.30C>A	c.(28-30)taC>taA	p.Y10*	FHL5_ENST00000541107.1_Nonsense_Mutation_p.Y10*	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	10					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Y10*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ACTGTCAATACTGCACAGCAT	0.328																																																1	Substitution - Nonsense(1)	ovary(1)	6											158	137	145					6																	97051519		2203	4300	6503	97158240	SO:0001587	stop_gained	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.30C>A	6.37:g.97051519C>A	ENSP00000326022:p.Tyr10*		97158240	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Nonsense_Mutation	SNP	ENST00000326771.2	37	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400487	0.62177	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	.	.	.	5.65	3.86	0.44501	.	0.000000	0.39834	N	0.001251	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7571	0.57341	0.0:0.8642:0.0:0.1358	.	.	.	.	X	10	.	ENSP00000326022:Y10X	Y	+	3	2	FHL5	97158240	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	2.034000	0.41145	0.716000	0.32124	0.591000	0.81541	TAC		0.328	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		A	97051519	C	A	97051519	4	1	176	1	0	0	0	0	0	1	0	0	5881	576	20	3	32	3	FHL5	6	97051519	Nonsense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08	65272505	97051519	74063548	15	10010											
ALDH8A1	64577	broad.mit.edu	37	6	135239875	135239875	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr6:135239875A>C	ENST00000265605.2	-	7	1210	c.1142T>G	c.(1141-1143)aTt>aGt	p.I381S	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.I327S|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.I331S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	381					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.I381S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TTCATCCTTAATGTCTGTTAT	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											134	117	123					6																	135239875		2203	4300	6503	135281568	SO:0001583	missense	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1142T>G	6.37:g.135239875A>C	ENSP00000265605:p.Ile381Ser		135281568	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437710	0.62955	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	T;T;T;T	0.76316	-1.01;1.55;-1.01;-1.01	5.72	5.72	0.89469	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.265778	0.44097	D	0.000489	T	0.59046	0.2165	L	0.31578	0.945	0.54753	D	0.999988	B;B;B	0.13594	0.008;0.006;0.008	B;B;B	0.16722	0.016;0.009;0.016	T	0.62393	-0.6864	10	0.87932	D	0	.	15.9941	0.80228	1.0:0.0:0.0:0.0	.	331;327;381	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	S	381;327;331;66	ENSP00000265605:I381S;ENSP00000356819:I327S;ENSP00000356821:I331S;ENSP00000437161:I66S	ENSP00000265605:I381S	I	-	2	0	ALDH8A1	135281568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.163000	0.94750	2.179000	0.69175	0.533000	0.62120	ATT		0.502	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			C	135239875	A	C	135239875	3	2	176	1	0	0	0	0	1	0	0	0	505	101	4	5	325	5	ALDH8A1	6	135239875	Missense_Mutation	SNP	A	TCGA-23-1030-01A-02W-0486-08	38188356	135239875	35875192	16	10011											
ZNF107	51427	broad.mit.edu	37	7	64166798	64166798	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr7:64166798A>T	ENST00000395391.1	+	4	1491	c.116A>T	c.(115-117)tAt>tTt	p.Y39F	ZNF107_ENST00000344930.3_Missense_Mutation_p.Y39F|ZNF107_ENST00000423627.1_Missense_Mutation_p.Y39F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y39F(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAATGTGAATATGAGAATTTA	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											76	71	73					7																	64166798		2203	4300	6503	63804233	SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.116A>T	7.37:g.64166798A>T	ENSP00000378789:p.Tyr39Phe		63804233		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	8.892	0.954298	0.18431	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.06768	4.95;3.26;3.26;3.26	1.13	-2.26	0.06867	.	.	.	.	.	T	0.04137	0.0115	N	0.22421	0.69	0.09310	N	1	P	0.34615	0.459	B	0.30943	0.122	T	0.35151	-0.9800	9	0.45353	T	0.12	.	1.5596	0.02592	0.358:0.3205:0.0:0.3215	.	39	Q9UII5	ZN107_HUMAN	F	39	ENSP00000353234:Y39F;ENSP00000343443:Y39F;ENSP00000400037:Y39F;ENSP00000378789:Y39F	ENSP00000343443:Y39F	Y	+	2	0	ZNF107	63804233	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.908000	0.04063	-0.545000	0.06224	0.254000	0.18369	TAT		0.393	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		T	64166798	A	T	64166798	3	4	176	1	0	0	0	0	1	0	0	0	17715	449	16	5	122	5	ZNF107	7	64166798	Missense_Mutation	SNP	A	TCGA-23-1030-01A-02W-0486-08		64166798	94971865	17	10012											
NRG1	3084	broad.mit.edu	37	8	32620819	32620819	+	Intron	SNP	G	G	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr8:32620819G>T	ENST00000405005.3	+	12	1268				NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000521670.1_Missense_Mutation_p.R451I|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACTCATCTTAGATCTTCTTCC	0.403																																																0			8											212	195	201					8																	32620819		2203	4300	6503	32740361	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1269-447G>T	8.37:g.32620819G>T			32740361	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459568	0.43736	.	.	ENSG00000157168	ENST00000521670	T	0.72051	-0.62	5.72	3.85	0.44370	.	.	.	.	.	T	0.49440	0.1557	N	0.08118	0	0.80722	D	1	B;B;B	0.21606	0.022;0.012;0.058	B;B;B	0.16722	0.007;0.007;0.016	T	0.52968	-0.8504	9	0.87932	D	0	.	9.9398	0.41574	0.0:0.1481:0.6997:0.1522	.	297;447;451	B7Z1D7;B0FYA9;Q02297-3	.;.;.	I	451	ENSP00000428828:R451I	ENSP00000428828:R451I	R	+	2	0	NRG1	32740361	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.860000	0.39428	2.702000	0.92279	0.650000	0.86243	AGA		0.403	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			T	32620819	G	T	32620819	1	4	176	0	1	0	0	0	0	0	0	0	10647	942	33	3		3	NRG1	8	32620819	Intron	SNP	G	TCGA-23-1030-01A-02W-0486-08		32620819	113743203	18	10013											
RB1CC1	9821	broad.mit.edu	37	8	53568620	53568622	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	CAA	CAA	-	-	CAA	CAA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr8:53568620_53568622delCAA	ENST00000025008.5	-	15	4290_4292	c.3767_3769delTTG	c.(3766-3771)gttgag>gag	p.V1256del	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_In_Frame_Del_p.V1256del|RB1CC1_ENST00000435644.2_In_Frame_Del_p.V1256del	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1256					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.V1256del(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AACTCTTTCTCAACAACTTCTCT	0.291																																					GBM(180;1701 2102 13475 42023 52570)											1	Deletion - In frame(1)	ovary(1)	8																																								53731175	SO:0001651	inframe_deletion	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3767_3769delTTG	8.37:g.53568623_53568625delCAA	ENSP00000025008:p.Val1256del		53731173	Q86YR4|Q8WVU9|Q92601	In_Frame_Del	DEL	ENST00000025008.5	37	CCDS34892.1																																																																																				0.291	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		-	53568622	CAA	-	53568620	7	5	176	1	0	1	0	1	0	0	0	0	13102	835	29	0	1055	0	RB1CC1	8	53568620	In_Frame_Del	DEL	CAA	TCGA-23-1030-01A-02W-0486-08	20947801	53568620	92795402	19	10014											
TG	7038	broad.mit.edu	37	8	134042140	134042140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr8:134042140C>T	ENST00000220616.4	+	41	7151	c.7111C>T	c.(7111-7113)Cga>Tga	p.R2371*	TG_ENST00000542445.1_Nonsense_Mutation_p.R741*|TG_ENST00000377869.1_Nonsense_Mutation_p.R2314*|TG_ENST00000519543.1_Nonsense_Mutation_p.R504*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2371					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R2371*(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACCCACATCCGAGGATTTGG	0.642																																																1	Substitution - Nonsense(1)	ovary(1)	8											47	48	48					8																	134042140		2203	4300	6503	134111322	SO:0001587	stop_gained	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7111C>T	8.37:g.134042140C>T	ENSP00000220616:p.Arg2371*		134111322	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.335392|10.335392	0.99385|0.99385	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178;ENST00000518108|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|.	.|.	.|.	5.47|5.47	-1.68|-1.68	0.08212|0.08212	.|.	.|1.253950	.|0.05376	.|N	.|0.536251	T|.	0.12433|.	0.0302|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18808|.	-1.0325|.	3|.	.|0.12103	.|T	.|0.63	.|.	2.5159|2.5159	0.04667|0.04667	0.218:0.2297:0.4416:0.1108|0.218:0.2297:0.4416:0.1108	.|.	.|.	.|.	.|.	L|X	826;166|2314;1177;2371;741;504	.|.	.|ENSP00000220616:R2371X	P|R	+|+	2|1	0|2	TG|TG	134111322|134111322	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	0.461000|0.461000	0.21940|0.21940	-0.292000|-0.292000	0.08999|0.08999	-1.086000|-1.086000	0.02197|0.02197	CCG|CGA		0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134042140	C	T	134042140	4	4	176	1	0	0	0	0	0	1	0	0	15813	644	23	1	7273	1	TG	8	134042140	Nonsense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08	80473520	134042140	12321882	20	10015											
AKNA	80709	broad.mit.edu	37	9	117113181	117113181	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr9:117113181G>C	ENST00000307564.4	-	15	3340	c.3179C>G	c.(3178-3180)aCa>aGa	p.T1060R	AKNA_ENST00000223791.3_Missense_Mutation_p.T520R|AKNA_ENST00000374079.4_5'Flank|AKNA_ENST00000374088.3_Missense_Mutation_p.T1060R|AKNA_ENST00000374075.5_Missense_Mutation_p.T979R	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1060					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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 positive regulation of transcription (GO:0001077)	p.T1060R(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GATGGTCTCTGTTGGTCCACA	0.597																																																1	Substitution - Missense(1)	ovary(1)	9											80	80	80					9																	117113181		2203	4300	6503	116153002	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3179C>G	9.37:g.117113181G>C	ENSP00000303769:p.Thr1060Arg		116153002	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	8.944	0.966559	0.18659	.	.	ENSG00000106948	ENST00000307564;ENST00000320310;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T	0.14640	2.71;2.71;2.49;2.71	3.85	2.95	0.34219	.	0.962947	0.08585	N	0.923868	T	0.12732	0.0309	L	0.34521	1.04	0.09310	N	0.99999	P;B	0.35575	0.51;0.386	B;B	0.36766	0.116;0.232	T	0.27262	-1.0079	10	0.62326	D	0.03	-2.7421	8.9839	0.35980	0.0:0.0:0.7797:0.2203	.	1060;979	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	R	1060;72;1060;520;979	ENSP00000303769:T1060R;ENSP00000363201:T1060R;ENSP00000223791:T520R;ENSP00000363188:T979R	ENSP00000223791:T520R	T	-	2	0	AKNA	116153002	0.187000	0.23238	0.015000	0.15790	0.025000	0.11179	2.400000	0.44504	1.208000	0.43306	-0.261000	0.10672	ACA		0.597	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		C	117113181	G	C	117113181	3	2	176	1	0	0	0	0	1	0	0	0	463	1377	48	3	1172	3	AKNA	9	117113181	Missense_Mutation	SNP	G	TCGA-23-1030-01A-02W-0486-08		117113181	24100250	21	10016											
OR5D16	390144	broad.mit.edu	37	11	55606580	55606580	+	Missense_Mutation	SNP	C	C	T	rs562661348		TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr11:55606580C>T	ENST00000378396.1	+	1	353	c.353C>T	c.(352-354)gCg>gTg	p.A118V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A118V(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATTCTATTTGCGGTGATGGCC	0.423													-|||	1	0.000199681	0	0.0014	5008	,	,		18662	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11											122	118	119					11																	55606580		2201	4296	6497	55363156	SO:0001583	missense	390144			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.353C>T	11.37:g.55606580C>T	ENSP00000367649:p.Ala118Val		55363156	Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	14.25	2.478779	0.44044	.	.	ENSG00000205029	ENST00000378396	T	0.02015	4.5	4.47	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07954	0.0199	M	0.76433	2.335	0.09310	N	1	D	0.55605	0.972	P	0.53593	0.73	T	0.08994	-1.0695	9	0.72032	D	0.01	-5.0358	11.1707	0.48569	0.0:0.9083:0.0:0.0917	.	118	Q8NGK9	OR5DG_HUMAN	V	118	ENSP00000367649:A118V	ENSP00000367649:A118V	A	+	2	0	OR5D16	55363156	0.001000	0.12720	0.009000	0.14445	0.743000	0.42351	1.590000	0.36654	1.048000	0.40298	0.530000	0.56133	GCG		0.423	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		T	55606580	C	T	55606580	3	4	176	1	0	0	0	0	1	0	0	0	11156	768	27	1	355	1	OR5D16	11	55606580	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08		55606580	79399936	22	10017											
SLC37A2	219855	broad.mit.edu	37	11	124954721	124954721	+	Splice_Site	SNP	A	A	G			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr11:124954721A>G	ENST00000403796.2	+	13	1427	c.1126A>G	c.(1126-1128)Atg>Gtg	p.M376V	SLC37A2_ENST00000308074.4_Splice_Site_p.M376V|SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000407458.1_Splice_Site_p.M376V|SLC37A2_ENST00000298280.5_Splice_Site_p.D347G	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	376					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.M376V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CCTCTCTCAGATGTTCCTGTA	0.592																																					Melanoma(11;373 620 21213 26083 47768)											1	Substitution - Missense(1)	ovary(1)	11											75	62	66					11																	124954721		2201	4299	6500	124459931	SO:0001630	splice_region_variant	219855			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1126-1A>G	11.37:g.124954721A>G			124459931	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	CCDS44757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.37|12.37	1.916494|1.916494	0.33815|0.33815	.|.	.|.	ENSG00000134955|ENSG00000134955	ENST00000298280|ENST00000403796;ENST00000407458;ENST00000308074	T|T;T;T	0.49720|0.56776	0.77|0.44;0.44;0.44	4.89|4.89	1.17|1.17	0.20885|0.20885	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.230675	.|0.45126	.|N	.|0.000396	T|T	0.32315|0.32315	0.0825|0.0825	N|N	0.19112|0.19112	0.55|0.55	0.28261|0.28261	N|N	0.924848|0.924848	.|B;B;B	.|0.21688	.|0.059;0.001;0.0	.|B;B;B	.|0.28991	.|0.097;0.006;0.006	T|T	0.17961|0.17961	-1.0352|-1.0352	6|9	.|.	.|.	.|.	-28.0857|-28.0857	6.5329|6.5329	0.22336|0.22336	0.4042:0.4631:0.0:0.1327|0.4042:0.4631:0.0:0.1327	.|.	.|1;376;376	.|B7Z480;Q8TED4-2;Q8TED4	.|.;.;SPX2_HUMAN	G|V	347|376	ENSP00000298280:D347G|ENSP00000384407:M376V;ENSP00000385126:M376V;ENSP00000311833:M376V	.|.	D|M	+|+	2|1	0|0	SLC37A2|SLC37A2	124459931|124459931	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.832000|0.832000	0.47134|0.47134	2.079000|2.079000	0.41577|0.41577	0.360000|0.360000	0.24265|0.24265	0.460000|0.460000	0.39030|0.39030	GAT|ATG		0.592	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184	Missense_Mutation	G	124954721	A	G	124954721	5	3	176	1	0	0	0	0	0	0	1	0	14601	347	12	4	1176	4	SLC37A2	11	124954721	Splice_Site	SNP	A	TCGA-23-1030-01A-02W-0486-08	69348141	124954721	10051795	23	10018											
NTM	50863	broad.mit.edu	37	11	132016219	132016219	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr11:132016219C>T	ENST00000374786.1	+	2	690	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	NTM_ENST00000427481.2_Missense_Mutation_p.R62C|NTM_ENST00000539799.1_Missense_Mutation_p.R71C|NTM_ENST00000374784.1_Missense_Mutation_p.R71C|NTM_ENST00000425719.2_Missense_Mutation_p.R71C|NTM_ENST00000374791.3_Missense_Mutation_p.R71C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	71	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R71C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CTGGCTAAACCGCAGCACCAT	0.567																																																1	Substitution - Missense(1)	ovary(1)	11											151	116	128					11																	132016219		2201	4297	6498	131521429	SO:0001583	missense	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.211C>T	11.37:g.132016219C>T	ENSP00000363918:p.Arg71Cys		131521429	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810210	0.90707	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.69	4.79	0.61399	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0	T	0.76334	-0.2997	10	0.72032	D	0.01	-21.636	14.9742	0.71257	0.0:0.9316:0.0:0.0684	.	71;62;71;71;71;71	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	C	71;71;62;62;71;71;71	ENSP00000363923:R71C;ENSP00000437668:R71C;ENSP00000448104:R62C;ENSP00000416320:R62C;ENSP00000363918:R71C;ENSP00000396722:R71C;ENSP00000363916:R71C	ENSP00000363916:R71C	R	+	1	0	NTM	131521429	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.085000	0.71343	1.428000	0.47296	-0.123000	0.14984	CGC		0.567	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		T	132016219	C	T	132016219	3	4	176	1	0	0	0	0	1	0	0	0	10699	652	23	1	303	1	NTM	11	132016219	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08	7061498	132016219	2990297	24	10019											
FAM113B	91523	broad.mit.edu	37	12	47629840	47629840	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr12:47629840C>T	ENST00000546455.1	+	4	1725	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.R332W			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	332	Pro-rich.						hydrolase activity (GO:0016787)	p.R332W(1)									GGGAATGCCCCGGTTCCCACA	0.597																																																1	Substitution - Missense(1)	ovary(1)	12											121	127	125					12																	47629840		2203	4300	6503	45916107	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.994C>T	12.37:g.47629840C>T	ENSP00000446688:p.Arg332Trp		45916107	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368718	0.24771	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.31247	1.5;1.5	3.95	3.06	0.35304	.	1.882490	0.03437	N	0.208652	T	0.21387	0.0515	N	0.14661	0.345	0.09310	N	1	D	0.60575	0.988	B	0.41299	0.353	T	0.25082	-1.0142	10	0.37606	T	0.19	-0.74	9.1444	0.36923	0.2168:0.7832:0.0:0.0	.	332	Q96HM7	F113B_HUMAN	W	332	ENSP00000446688:R332W;ENSP00000396040:R332W	ENSP00000396040:R332W	R	+	1	2	FAM113B	45916107	0.016000	0.18221	0.024000	0.17045	0.069000	0.16628	0.685000	0.25378	1.230000	0.43646	0.655000	0.94253	CGG		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		T	47629840	C	T	47629840	3	4	176	1	0	0	0	0	1	0	0	0	5402	643	23	1	996	1	FAM113B	12	47629840	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08		47629840	86222055	25	10020											
BRCA2	675	broad.mit.edu	37	13	32912553	32912553	+	Missense_Mutation	SNP	C	C	T	rs80358656|rs397507322		TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr13:32912553C>T	ENST00000380152.3	+	11	4294	c.4061C>T	c.(4060-4062)aCg>aTg	p.T1354M	BRCA2_ENST00000544455.1_Missense_Mutation_p.T1354M			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1354	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.T1354M(1)|p.E1353fs*5(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGATGAAACGGACTTGCTA	0.323			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(2)	13	GRCh37	CM035691	BRCA2	M	rs80358656	C	MET/THR	0,4406		0,0,2203	60	61	61	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4061	-3	0	13	dbSNP_132	61	3,8593	3.0+/-9.4	0,3,4295	no	missense	BRCA2	NM_000059.3	81	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	1354/3419	32912553	3,12999	2203	4298	6501	31810553	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4061C>T	13.37:g.32912553C>T	ENSP00000369497:p.Thr1354Met		31810553	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	5.731	0.319279	0.10845	0.0	3.49E-4	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00717	5.79;5.79	5.75	-3.01	0.05463	.	0.534882	0.19957	N	0.102297	T	0.00468	0.0015	N	0.22421	0.69	0.09310	N	1	P	0.46327	0.876	B	0.30646	0.118	T	0.55451	-0.8139	10	0.72032	D	0.01	.	7.0232	0.24926	0.4571:0.1323:0.4106:0.0	.	1354	P51587	BRCA2_HUMAN	M	1354	ENSP00000369497:T1354M;ENSP00000439902:T1354M	ENSP00000369497:T1354M	T	+	2	0	BRCA2	31810553	0.001000	0.12720	0.002000	0.10522	0.274000	0.26718	0.055000	0.14229	-0.494000	0.06669	-0.363000	0.07495	ACG		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		T	32912553	C	T	32912553	3	4	176	1	0	0	0	0	1	0	0	0	1499	536	19	1	4099	1	BRCA2	13	32912553	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08		32912553	82257325	26	10021											
SEC23A	10484	broad.mit.edu	37	14	39565308	39565308	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr14:39565308C>A	ENST00000307712.6	-	2	532	c.15G>T	c.(13-15)ttG>ttT	p.L5F	SEC23A_ENST00000548032.2_Missense_Mutation_p.L5F|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000557280.1_Missense_Mutation_p.L5F|SEC23A_ENST00000553970.1_Missense_Mutation_p.L5F|SEC23A_ENST00000545328.2_Missense_Mutation_p.L5F	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	5					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.L5F(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GAATGAATTCCAAATAGGTTG	0.343																																																1	Substitution - Missense(1)	ovary(1)	14											107	101	103					14																	39565308		2203	4300	6503	38635059	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.15G>T	14.37:g.39565308C>A	ENSP00000306881:p.Leu5Phe		38635059	B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668309	0.47677	.	.	ENSG00000100934	ENST00000307712;ENST00000545328;ENST00000555017;ENST00000556092;ENST00000548032;ENST00000555425;ENST00000557280;ENST00000553970;ENST00000557437	D;D;D;D;D;D;D;D;D	0.88741	-2.24;-2.23;-1.66;-1.66;-2.42;-2.39;-2.41;-2.41;-2.1	5.72	3.9	0.45041	.	0.208543	0.43110	D	0.000617	T	0.81978	0.4937	N	0.24115	0.695	0.80722	D	1	B;B	0.33073	0.244;0.396	B;B	0.35899	0.213;0.163	T	0.81346	-0.0974	10	0.51188	T	0.08	-10.9126	11.7522	0.51855	0.0:0.8582:0.0:0.1418	.	5;5	F5H365;Q15436	.;SC23A_HUMAN	F	5	ENSP00000306881:L5F;ENSP00000445393:L5F;ENSP00000450819:L5F;ENSP00000451230:L5F;ENSP00000447489:L5F;ENSP00000451999:L5F;ENSP00000452575:L5F;ENSP00000451924:L5F;ENSP00000452390:L5F	ENSP00000306881:L5F	L	-	3	2	SEC23A	38635059	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	0.449000	0.21744	1.413000	0.46997	0.563000	0.77884	TTG		0.343	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			A	39565308	C	A	39565308	3	1	176	1	0	0	0	0	1	0	0	0	13994	593	21	3	2358	3	SEC23A	14	39565308	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08		39565308	67784232	27	10022											
DLST	1743	broad.mit.edu	37	14	75367869	75367869	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr14:75367869A>G	ENST00000334220.4	+	14	1221	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	DLST_ENST00000334212.6_Missense_Mutation_p.N301S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	387					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)	p.N387S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CCCATTATCAACCCCCCTCAG	0.517																																																1	Substitution - Missense(1)	ovary(1)	14											122	111	115					14																	75367869		2203	4300	6503	74437622	SO:0001583	missense	1743				CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1160A>G	14.37:g.75367869A>G	ENSP00000335304:p.Asn387Ser		74437622	B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356883	0.61293	.	.	ENSG00000119689	ENST00000334220;ENST00000334212	T;T	0.52295	0.67;0.67	5.94	5.94	0.96194	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	H	0.97315	3.98	0.80722	D	1	B;B;B	0.33288	0.17;0.013;0.406	B;B;B	0.37387	0.139;0.034;0.248	T	0.77183	-0.2681	10	0.87932	D	0	-15.9156	16.3979	0.83621	1.0:0.0:0.0:0.0	.	301;387;299	B7Z5W8;P36957;Q86TQ8	.;ODO2_HUMAN;.	S	387;301	ENSP00000335304:N387S;ENSP00000335465:N301S	ENSP00000335465:N301S	N	+	2	0	DLST	74437622	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	9.339000	0.96797	2.279000	0.76181	0.459000	0.35465	AAC		0.517	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			G	75367869	A	G	75367869	3	3	176	1	0	0	0	0	1	0	0	0	4569	43	2	4	1214	4	DLST	14	75367869	Missense_Mutation	SNP	A	TCGA-23-1030-01A-02W-0486-08	35802561	75367869	31981671	28	10023											
IGDCC3	9543	broad.mit.edu	37	15	65624385	65624385	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr15:65624385T>A	ENST00000327987.4	-	7	1293	c.1042A>T	c.(1042-1044)Atg>Ttg	p.M348L	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	348	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.M348L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGTGAACATGGCTGTGGTC	0.612																																																1	Substitution - Missense(1)	ovary(1)	15											85	69	74					15																	65624385		2201	4299	6500	63411438	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1042A>T	15.37:g.65624385T>A	ENSP00000332773:p.Met348Leu		63411438	O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.587991	0.28268	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.37752	1.18	4.56	2.24	0.28232	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.254237	0.43919	D	0.000515	T	0.15392	0.0371	N	0.05259	-0.085	0.36382	D	0.861962	B	0.26318	0.146	B	0.24006	0.05	T	0.13953	-1.0490	10	0.20519	T	0.43	-23.7951	8.4244	0.32720	0.0:0.1621:0.0:0.8379	.	348	Q8IVU1	IGDC3_HUMAN	L	348;211	ENSP00000332773:M348L	ENSP00000332773:M348L	M	-	1	0	IGDCC3	63411438	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.839000	0.48207	0.712000	0.32039	-0.250000	0.11733	ATG		0.612	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		A	65624385	T	A	65624385	3	1	176	1	0	0	0	0	1	0	0	0	7568	1464	51	5	1434	5	IGDCC3	15	65624385	Missense_Mutation	SNP	T	TCGA-23-1030-01A-02W-0486-08		65624385	36907007	29	10024											
BLM	641	broad.mit.edu	37	15	91312750	91312750	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr15:91312750C>T	ENST00000355112.3	+	12	2607	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	BLM_ENST00000560509.1_Missense_Mutation_p.T830M|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	830	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.T830M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ATGGCTCTTACGGCCACAGCT	0.443			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	1	Substitution - Missense(1)	ovary(1)	15											82	71	75					15																	91312750		2198	4298	6496	89113754	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2489C>T	15.37:g.91312750C>T	ENSP00000347232:p.Thr830Met		89113754	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525064	0.85600	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.18338	2.22	4.86	4.86	0.63082	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65595	0.2706	H	0.99924	4.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83462	0.0054	10	0.87932	D	0	-2.0889	15.8442	0.78874	0.0:1.0:0.0:0.0	.	830;455;830	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	M	830;483;17	ENSP00000347232:T830M	ENSP00000347232:T830M	T	+	2	0	BLM	89113754	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	7.544000	0.82117	2.398000	0.81561	0.591000	0.81541	ACG		0.443	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			T	91312750	C	T	91312750	3	4	176	1	0	0	0	0	1	0	0	0	1445	536	19	1	2531	1	BLM	15	91312750	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08	25688365	91312750	11218642	30	10025											
ZNF434	54925	broad.mit.edu	37	16	3434788	3434788	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr16:3434788G>A	ENST00000396852.4	-	6	1212	c.905C>T	c.(904-906)aCc>aTc	p.T302I	ZSCAN32_ENST00000574940.1_Missense_Mutation_p.T302I|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.T90I|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.T13I|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.T90I|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.T302I|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.T13I	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	302					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T90I(1)									CTGTTCTGGGGTCCGCAGAAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	16											155	162	160					16																	3434788		2197	4300	6497	3374789	SO:0001583	missense	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.905C>T	16.37:g.3434788G>A	ENSP00000380061:p.Thr302Ile		3374789	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	G	18.21	3.572825	0.65765	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	3.17	1.14	0.20703	.	0.278577	0.18971	U	0.126125	T	0.71108	0.3301	H	0.94462	3.54	0.09310	N	1	D;B;B	0.89917	1.0;0.057;0.229	D;B;B	0.85130	0.997;0.039;0.072	T	0.60475	-0.7256	10	0.87932	D	0	.	5.4715	0.16672	0.2825:0.0:0.7175:0.0	.	90;90;302	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	I	90;302;302;13;90	ENSP00000302502:T90I;ENSP00000380061:T302I;ENSP00000380057:T302I;ENSP00000391787:T13I;ENSP00000407312:T90I	ENSP00000302502:T90I	T	-	2	0	ZNF434	3374789	0.002000	0.14202	0.163000	0.22734	0.734000	0.41952	0.411000	0.21115	0.052000	0.16007	0.655000	0.94253	ACC		0.502	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		A	3434788	G	A	3434788	3	1	176	1	0	0	0	0	1	0	0	0	17908	1261	44	2	1196	2	ZNF434	16	3434788	Missense_Mutation	SNP	G	TCGA-23-1030-01A-02W-0486-08		3434788	86919965	31	10026											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	176	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-23-1030-01A-02W-0486-08		7578406	73616804	32	10027											
C20orf117	140710	broad.mit.edu	37	20	35425305	35425305	+	Silent	SNP	A	A	G			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chr20:35425305A>G	ENST00000357779.3	-	13	3074	c.2748T>C	c.(2746-2748)ctT>ctC	p.L916L	SOGA1_ENST00000237536.4_Silent_p.L1154L|SOGA1_ENST00000456801.2_Silent_p.L757L|SOGA1_ENST00000279034.6_Silent_p.L916L			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	916					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.L1154L(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CATTTCCTCCAAGCTCAACTT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	20											113	123	120					20																	35425305		2121	4228	6349	34858719	SO:0001819	synonymous_variant	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2748T>C	20.37:g.35425305A>G			34858719	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																					0.582	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		G	35425305	A	G	35425305	2	3	176	1	0	0	0	0	0	0	0	1	2083	117	5	4		4	C20orf117	20	35425305	Silent	SNP	A	TCGA-23-1030-01A-02W-0486-08		35425305	27600215	33	10028											
TSPAN7	7102	broad.mit.edu	37	X	38530639	38530639	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1030-01A-02W-0486-08	TCGA-23-1030-10C-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b85a6d4c-613c-4f66-893d-c3846a4cf6bc	747b636b-ea6a-4a5a-94de-6606a1a9827d	g.chrX:38530639T>A	ENST00000378482.2	+	3	457	c.280T>A	c.(280-282)Ttt>Att	p.F94I	TSPAN7_ENST00000488893.1_3'UTR|TM4SF2_ENST00000465127.1_Missense_Mutation_p.F124I|TSPAN7_ENST00000286824.6_Missense_Mutation_p.F111I|TSPAN7_ENST00000422612.2_Missense_Mutation_p.F120I|TSPAN7_ENST00000545599.1_Missense_Mutation_p.F68I	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	94					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.F89I(1)|p.F94I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTATGCCATGTTTCTGTCCCT	0.438																																																2	Substitution - Missense(2)	ovary(2)	X											371	313	333					X																	38530639		2202	4300	6502	38415583	SO:0001583	missense	7102			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"CD molecules", "Tetraspanins"	11854	protein-coding gene	gene with protein product		300096	"transmembrane 4 superfamily member 2", "mental retardation, X-linked 58"	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.280T>A	X.37:g.38530639T>A	ENSP00000367743:p.Phe94Ile		38415583	B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	ENST00000378482.2	37	CCDS14248.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486812	0.84854	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.87	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	L	0.54863	1.705	0.80722	D	1	P;P;P	0.49696	0.927;0.927;0.863	P;P;P	0.58620	0.842;0.781;0.629	T	0.79374	-0.1830	9	.	.	.	.	11.0941	0.48134	0.0:0.073:0.0:0.927	.	111;120;94	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	I	124;94;120;111;68	ENSP00000417050:F124I;ENSP00000367743:F94I;ENSP00000388954:F120I;ENSP00000286824:F111I;ENSP00000441540:F68I	.	F	+	1	0	RP5-972B16.2;TSPAN7	38415583	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.698000	0.84413	0.833000	0.34828	0.486000	0.48141	TTT		0.438	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			A	38530639	T	A	38530639	3	1	176	1	0	0	0	0	1	0	0	0	16652	1725	60	5	290	5	TSPAN7	23	38530639	Missense_Mutation	SNP	T	TCGA-23-1030-01A-02W-0486-08		38530639	116739921	34	10029											
LEPRE1	64175	broad.mit.edu	37	1	43220616	43220616	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr1:43220616G>T	ENST00000296388.5	-	8	1320	c.1269C>A	c.(1267-1269)aaC>aaA	p.N423K	LEPRE1_ENST00000397054.3_Missense_Mutation_p.N423K|LEPRE1_ENST00000236040.4_Missense_Mutation_p.N423K			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	423					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.N423K(1)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTTCATAAGGTTCCCAATCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											108	98	101					1																	43220616		2203	4300	6503	42993203	SO:0001583	missense	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1269C>A	1.37:g.43220616G>T	ENSP00000296388:p.Asn423Lys		42993203	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	CCDS472.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.223881|4.223881	0.79576|0.79576	.|.	.|.	ENSG00000117385|ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027|ENST00000447502	T;T;T|.	0.37058|.	1.26;1.22;1.47|.	5.57|5.57	3.65|3.65	0.41850|0.41850	.|.	0.306356|.	0.39020|.	N|.	0.001493|.	T|T	0.58623|0.58623	0.2135|0.2135	L|L	0.53249|0.53249	1.67|1.67	0.49915|0.49915	D|D	0.999831|0.999831	P;B;P|.	0.47545|.	0.897;0.376;0.605|.	P;B;B|.	0.45639|.	0.488;0.144;0.258|.	T|T	0.53070|0.53070	-0.8490|-0.8490	10|5	0.23891|.	T|.	0.37|.	-22.1698|-22.1698	9.1066|9.1066	0.36701|0.36701	0.0817:0.1483:0.7701:0.0|0.0817:0.1483:0.7701:0.0	.|.	423;288;423|.	Q32P28-3;B4DNM8;Q32P28|.	.;.;P3H1_HUMAN|.	K|T	423;423;423;288|15	ENSP00000380245:N423K;ENSP00000236040:N423K;ENSP00000296388:N423K|.	ENSP00000236040:N423K|.	N|P	-|-	3|1	2|0	LEPRE1|LEPRE1	42993203|42993203	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.978000|0.978000	0.69477|0.69477	2.954000|2.954000	0.49113|0.49113	0.668000|0.668000	0.31126|0.31126	0.462000|0.462000	0.41574|0.41574	AAC|CCT		0.562	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		T	43220616	G	T	43220616	3	4	177	1	0	0	0	0	1	0	0	0	8729	1252	44	3	992	3	LEPRE1	1	43220616	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08		43220616	206030005	1	10030											
LRRC7	57554	broad.mit.edu	37	1	70502241	70502241	+	Missense_Mutation	SNP	G	G	C	rs140092259		TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr1:70502241G>C	ENST00000035383.5	+	18	2138	c.2108G>C	c.(2107-2109)cGg>cCg	p.R703P	LRRC7_ENST00000310961.5_Missense_Mutation_p.R708P|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	703						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R703P(1)|p.R703L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTAATACCCGGGTTAAAGTG	0.453																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	1											117	128	124					1																	70502241		2203	4300	6503	70274829	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2108G>C	1.37:g.70502241G>C	ENSP00000035383:p.Arg703Pro		70274829	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505082	0.26949	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37584	1.19;1.26	6.07	6.07	0.98685	.	0.187127	0.48286	D	0.000188	T	0.11665	0.0284	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06320	-1.0833	10	0.07990	T	0.79	.	12.7923	0.57541	0.0815:0.0:0.9185:0.0	.	703	Q96NW7	LRRC7_HUMAN	P	708;703;526	ENSP00000309245:R708P;ENSP00000035383:R703P	ENSP00000035383:R703P	R	+	2	0	LRRC7	70274829	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.587000	0.60991	2.890000	0.99128	0.650000	0.86243	CGG		0.453	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		C	70502241	G	C	70502241	3	2	177	1	0	0	0	0	1	0	0	0	9020	1116	39	3	2178	3	LRRC7	1	70502241	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	27281625	70502241	178748380	2	10031											
ASTN1	460	broad.mit.edu	37	1	177000081	177000081	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr1:177000081G>T	ENST00000367654.3	-	4	1084	c.873C>A	c.(871-873)gaC>gaA	p.D291E	MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.D291E|ASTN1_ENST00000424564.2_Missense_Mutation_p.D291E|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291E	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	291					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D291E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTTGGCATTGTCACTTCCTG	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											102	103	103					1																	177000081		2203	4300	6503	175266704	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.873C>A	1.37:g.177000081G>T	ENSP00000356626:p.Asp291Glu		175266704	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	G	15.82	2.946652	0.53186	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14893	2.47;2.89;2.89;2.47	5.76	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	L	0.27053	0.805	0.49483	D	0.999798	D;D;D	0.67145	0.996;0.99;0.99	D;D;D	0.77557	0.99;0.98;0.98	T	0.05289	-1.0894	10	0.08837	T	0.75	-36.3384	11.5906	0.50943	0.146:0.0:0.854:0.0	.	291;291;291	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	E	291	ENSP00000356629:D291E;ENSP00000354536:D291E;ENSP00000356626:D291E;ENSP00000395041:D291E	ENSP00000354536:D291E	D	-	3	2	ASTN1	175266704	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.101000	0.50283	1.428000	0.47296	0.655000	0.94253	GAC		0.418	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	177000081	G	T	177000081	3	4	177	1	0	0	0	0	1	0	0	0	1064	1368	48	3	3095	3	ASTN1	1	177000081	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	106497840	177000081	72250540	3	10032											
HIST3H2A	92815	broad.mit.edu	37	1	228645228	228645228	+	Silent	SNP	C	C	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr1:228645228C>T	ENST00000366695.2	-	1	332	c.291G>A	c.(289-291)ctG>ctA	p.L97L	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	97					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)	p.L97L(1)		endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				CGCGGCCCAGCAGCTTGTTGA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	1											81	76	78					1																	228645228		2203	4299	6502	226711851	SO:0001819	synonymous_variant	92815			AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"Histones / Replication-dependent"	20507	protein-coding gene	gene with protein product		615015	"histone 3, H2a"			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.291G>A	1.37:g.228645228C>T			226711851	B2R4S4	Silent	SNP	ENST00000366695.2	37	CCDS1573.1																																																																																				0.657	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		T	228645228	C	T	228645228	2	4	177	1	0	0	0	0	0	0	0	1	7182	697	25	2		2	HIST3H2A	1	228645228	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	51645147	228645228	20605393	4	10033											
RYR2	6262	broad.mit.edu	37	1	237947294	237947294	+	Silent	SNP	C	C	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr1:237947294C>T	ENST00000366574.2	+	90	12599	c.12282C>T	c.(12280-12282)atC>atT	p.I4094I	RYR2_ENST00000542537.1_Silent_p.I4078I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.I4100I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4094					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I4092I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGAAGGACATCGGCTTCAACG	0.498																																																1	Substitution - coding silent(1)	ovary(1)	1											43	44	44					1																	237947294		2018	4199	6217	236013917	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12282C>T	1.37:g.237947294C>T			236013917	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237947294	C	T	237947294	2	4	177	1	0	0	0	0	0	0	0	1	13772	874	31	1		1	RYR2	1	237947294	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	9302066	237947294	11303327	5	10034											
OR2M2	391194	broad.mit.edu	37	1	248343304	248343304	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr1:248343304A>G	ENST00000359682.2	+	1	17	c.17A>G	c.(16-18)cAg>cGg	p.Q6R		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q6R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGAGAATCAGACCTTCAAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											198	195	196					1																	248343304		2203	4300	6503	246409927	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.17A>G	1.37:g.248343304A>G	ENSP00000352710:p.Gln6Arg		246409927	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	12.92	2.082954	0.36758	.	.	ENSG00000198601	ENST00000359682	T	0.00262	8.4	1.44	1.44	0.22558	.	0.306691	0.17821	U	0.160853	T	0.00144	0.0004	L	0.41906	1.305	0.21290	N	0.999737	B	0.34264	0.446	B	0.35182	0.197	T	0.26573	-1.0099	10	0.52906	T	0.07	.	7.7689	0.28997	1.0:0.0:0.0:0.0	.	6	Q96R28	OR2M2_HUMAN	R	6	ENSP00000352710:Q6R	ENSP00000352710:Q6R	Q	+	2	0	OR2M2	246409927	0.000000	0.05858	0.062000	0.19696	0.564000	0.35744	0.030000	0.13688	0.651000	0.30788	0.248000	0.18094	CAG		0.423	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		G	248343304	A	G	248343304	3	3	177	1	0	0	0	0	1	0	0	0	11010	188	7	4	19	4	OR2M2	1	248343304	Missense_Mutation	SNP	A	TCGA-23-1031-01A-01W-0486-08	10396010	248343304	907317	6	10035											
BIRC6	57448	broad.mit.edu	37	2	32690187	32690187	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr2:32690187C>G	ENST00000421745.2	+	26	5445	c.5311C>G	c.(5311-5313)Caa>Gaa	p.Q1771E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1771					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1743E(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACATTTTCTTCAACCTCCGCC	0.343																																					Pancreas(94;175 1509 16028 18060 45422)											1	Substitution - Missense(1)	ovary(1)	2											55	55	55					2																	32690187		2203	4299	6502	32543691	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5311C>G	2.37:g.32690187C>G	ENSP00000393596:p.Gln1771Glu		32543691	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865899	0.71949	.	.	ENSG00000115760	ENST00000421745	T	0.73897	-0.79	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	L	0.47716	1.5	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.80865	-0.1191	10	0.48119	T	0.1	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	1771	Q9NR09	BIRC6_HUMAN	E	1771	ENSP00000393596:Q1771E	ENSP00000393596:Q1771E	Q	+	1	0	BIRC6	32543691	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.818000	0.86416	2.810000	0.96702	0.650000	0.86243	CAA		0.343	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32690187	C	G	32690187	3	3	177	1	0	0	0	0	1	0	0	0	1438	827	29	3	5413	3	BIRC6	2	32690187	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08		32690187	210509186	7	10036											
PUS10	150962	broad.mit.edu	37	2	61180218	61180218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr2:61180218C>A	ENST00000316752.6	-	15	1483	c.1222G>T	c.(1222-1224)Gaa>Taa	p.E408*	PUS10_ENST00000407787.1_Nonsense_Mutation_p.E408*	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	408					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.E408*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GTCTTTTCTTCTTCACCTTCT	0.318																																																1	Substitution - Nonsense(1)	ovary(1)	2											283	266	271					2																	61180218		2203	4300	6503	61033722	SO:0001587	stop_gained	150962			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1222G>T	2.37:g.61180218C>A	ENSP00000326003:p.Glu408*		61033722	Q5JPJ5|Q96MI8	Nonsense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	36	5.933441	0.97116	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.65	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-7.9721	14.5491	0.68054	0.0:0.9296:0.0:0.0704	.	.	.	.	X	408	.	ENSP00000326003:E408X	E	-	1	0	PUS10	61033722	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.432000	0.66514	1.405000	0.46838	0.484000	0.47621	GAA		0.318	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		A	61180218	C	A	61180218	4	1	177	1	0	0	0	0	0	1	0	0	12834	922	32	3	383	3	PUS10	2	61180218	Nonsense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	28490031	61180218	182019155	8	10037											
ADD2	119	broad.mit.edu	37	2	70900428	70900428	+	Intron	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr2:70900428C>G	ENST00000264436.4	-	15	2186				ADD2_ENST00000355733.3_Missense_Mutation_p.G591A|ADD2_ENST00000407644.2_Intron	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.G591A(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CACGGCCGGACCAGAGCCTGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	2											73	68	69					2																	70900428		2203	4300	6503	70753936	SO:0001627	intron_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1742-290G>C	2.37:g.70900428C>G			70753936	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.726951	0.00694	.	.	ENSG00000075340	ENST00000355733	T	0.06449	3.3	1.9	-0.317	0.12736	.	.	.	.	.	T	0.02230	0.0069	.	.	.	0.09310	N	1	B	0.15930	0.015	B	0.17098	0.017	T	0.46652	-0.9176	8	0.06625	T	0.88	.	2.6268	0.04932	0.0:0.4609:0.3114:0.2277	.	591	P35612-3	.	A	591	ENSP00000347972:G591A	ENSP00000347972:G591A	G	-	2	0	ADD2	70753936	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.256000	0.08757	-0.096000	0.12329	0.650000	0.86243	GGT		0.542	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		G	70900428	C	G	70900428	1	3	177	0	1	0	0	0	0	0	0	0	305	507	18	3		3	ADD2	2	70900428	Intron	SNP	C	TCGA-23-1031-01A-01W-0486-08	9720210	70900428	172298945	9	10038											
CNTNAP5	129684	broad.mit.edu	37	2	125530421	125530421	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr2:125530421T>C	ENST00000431078.1	+	17	2940	c.2576T>C	c.(2575-2577)gTg>gCg	p.V859A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	859	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V859A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATGGTCCTGTGGAGCTTGTA	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											181	168	172					2																	125530421		1942	4141	6083	125246891	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2576T>C	2.37:g.125530421T>C	ENSP00000399013:p.Val859Ala		125246891	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	t	5.608	0.296954	0.10622	.	.	ENSG00000155052	ENST00000431078	T	0.76578	-1.03	5.49	4.31	0.51392	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.477600	0.04600	N	0.398417	T	0.63094	0.2482	N	0.20445	0.575	0.09310	N	1	B	0.24823	0.112	B	0.30716	0.119	T	0.54649	-0.8262	10	0.06365	T	0.9	.	4.2645	0.10757	0.0:0.16:0.1837:0.6563	.	859	Q8WYK1	CNTP5_HUMAN	A	859	ENSP00000399013:V859A	ENSP00000399013:V859A	V	+	2	0	CNTNAP5	125246891	0.015000	0.18098	0.003000	0.11579	0.056000	0.15407	2.075000	0.41538	0.904000	0.36572	0.524000	0.50904	GTG		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			C	125530421	T	C	125530421	3	2	177	1	0	0	0	0	1	0	0	0	3650	1696	59	4	2642	4	CNTNAP5	2	125530421	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08	54629993	125530421	117668952	10	10039											
MFSD6	54842	broad.mit.edu	37	2	191301408	191301408	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr2:191301408C>G	ENST00000392328.1	+	3	977	c.653C>G	c.(652-654)cCa>cGa	p.P218R	MFSD6_ENST00000281416.7_Missense_Mutation_p.P218R	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	218					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P218R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CCAACAGCTCCAAACATGAAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	2											87	89	88					2																	191301408		2203	4300	6503	191009653	SO:0001583	missense	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.653C>G	2.37:g.191301408C>G	ENSP00000376141:p.Pro218Arg		191009653	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.228069	0.00280	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.30714	1.52;1.52	5.54	-3.39	0.04868	Major facilitator superfamily domain, general substrate transporter (1);	2.133840	0.01337	N	0.011446	T	0.19327	0.0464	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16630	-1.0396	10	0.13853	T	0.58	5.0121	8.3519	0.32307	0.1217:0.3248:0.0:0.5535	.	218	Q6ZSS7	MFSD6_HUMAN	R	218	ENSP00000376141:P218R;ENSP00000281416:P218R	ENSP00000281416:P218R	P	+	2	0	MFSD6	191009653	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.118000	0.15605	-0.729000	0.04875	-1.761000	0.00669	CCA		0.453	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			G	191301408	C	G	191301408	3	3	177	1	0	0	0	0	1	0	0	0	9535	594	21	3	655	3	MFSD6	2	191301408	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	65770987	191301408	51897965	11	10040											
ATP2B2	491	broad.mit.edu	37	3	10491053	10491053	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr3:10491053G>A	ENST00000352432.4	-	1	244	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	ATP2B2_ENST00000397077.1_Missense_Mutation_p.R59C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R59C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R59C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R59C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	59					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.R59C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTTTTGAGGCGCCGGCAGATG	0.567																																					Ovarian(125;1619 1709 15675 19819 38835)											1	Substitution - Missense(1)	ovary(1)	3											74	69	71					3																	10491053		2203	4300	6503	10466053	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.175C>T	3.37:g.10491053G>A	ENSP00000324172:p.Arg59Cys		10466053	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587878	0.86851	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	4.9	4.9	0.64082	ATPase, P-type cation-transporter, N-terminal (2);	0.071490	0.56097	D	0.000023	D	0.91369	0.7277	M	0.92923	3.36	0.80722	D	1	D;D;D	0.71674	0.984;0.994;0.998	P;P;D	0.66716	0.681;0.766;0.946	D	0.93420	0.6776	10	0.72032	D	0.01	-24.0908	15.5665	0.76298	0.0:0.0:1.0:0.0	.	59;71;59	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	C	59;59;59;59;59;25;59	ENSP00000324172:R59C;ENSP00000373311:R59C;ENSP00000380267:R59C;ENSP00000353414:R59C;ENSP00000344677:R59C	ENSP00000342954:R59C	R	-	1	0	ATP2B2	10466053	0.959000	0.32827	1.000000	0.80357	0.988000	0.76386	2.144000	0.42197	2.275000	0.75901	0.462000	0.41574	CGC		0.567	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		A	10491053	G	A	10491053	3	1	177	1	0	0	0	0	1	0	0	0	1140	1087	38	1	3644	1	ATP2B2	3	10491053	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08		10491053	187531377	12	10041											
AZI2	64343	broad.mit.edu	37	3	28380074	28380074	+	Silent	SNP	G	G	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr3:28380074G>A	ENST00000479665.1	-	3	780	c.249C>T	c.(247-249)tcC>tcT	p.S83S	AZI2_ENST00000334100.6_Silent_p.S83S|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000457172.1_Silent_p.S83S|AZI2_ENST00000420543.2_Silent_p.S83S	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	83	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)		p.S83S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCGTCCCACGGAACTTGTTT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	3											118	105	109					3																	28380074		2202	4300	6502	28355078	SO:0001819	synonymous_variant	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.249C>T	3.37:g.28380074G>A			28355078	A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Silent	SNP	ENST00000479665.1	37	CCDS2647.1																																																																																				0.348	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		A	28380074	G	A	28380074	2	1	177	1	0	0	0	0	0	0	0	1	1241	1103	39	1		1	AZI2	3	28380074	Silent	SNP	G	TCGA-23-1031-01A-01W-0486-08	17889021	28380074	169642356	13	10042											
NPHP3	27031	broad.mit.edu	37	3	132433930	132433930	+	Splice_Site	SNP	T	T	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr3:132433930T>A	ENST00000337331.5	-	5	1042	c.956A>T	c.(955-957)aAg>aTg	p.K319M	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Splice_Site_p.K319M	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	319					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.K319M(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TATCCTCACCTTAAGGAAAAG	0.323																																																1	Substitution - Missense(1)	ovary(1)	3											63	64	64					3																	132433930		2203	4299	6502	133916620	SO:0001630	splice_region_variant	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.957+1A>T	3.37:g.132433930T>A			133916620	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046826	0.75846	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.93953	-3.32;-3.22	6.17	4.84	0.62591	.	0.142072	0.64402	D	0.000007	D	0.91168	0.7218	L	0.46157	1.445	0.80722	D	1	P	0.52170	0.951	P	0.45971	0.499	D	0.91623	0.5312	10	0.87932	D	0	-19.8451	10.9812	0.47494	0.0:0.1089:0.0:0.8911	.	319	Q7Z494	NPHP3_HUMAN	M	319	ENSP00000319909:K319M;ENSP00000338766:K319M	ENSP00000319909:K319M	K	-	2	0	NPHP3	133916620	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.340000	0.43974	2.371000	0.80710	0.533000	0.62120	AAG		0.323	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	Missense_Mutation	A	132433930	T	A	132433930	5	1	177	1	0	0	0	0	0	0	1	0	10580	1623	56	5	3128	5	NPHP3	3	132433930	Splice_Site	SNP	T	TCGA-23-1031-01A-01W-0486-08	104053856	132433930	65588500	14	10043											
TSC22D2	9819	broad.mit.edu	37	3	150127730	150127730	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr3:150127730C>G	ENST00000361875.3	+	1	1609	c.593C>G	c.(592-594)tCc>tGc	p.S198C	TSC22D2_ENST00000361136.2_Missense_Mutation_p.S198C	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	198					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S198C(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGACTAGATCCGGGGATTGC	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											89	90	90					3																	150127730		2203	4300	6503	151610420	SO:0001583	missense	9819			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.593C>G	3.37:g.150127730C>G	ENSP00000354543:p.Ser198Cys		151610420	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972572	0.74246	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.33438	1.41;1.42	4.08	4.08	0.47627	.	0.129947	0.31370	N	0.007780	T	0.35451	0.0932	N	0.22421	0.69	0.47374	D	0.999407	D;D	0.69078	0.997;0.983	P;P	0.56474	0.799;0.635	T	0.26467	-1.0102	10	0.52906	T	0.07	.	15.9027	0.79392	0.0:1.0:0.0:0.0	.	198;198	O75157-2;O75157	.;T22D2_HUMAN	C	198	ENSP00000354543:S198C;ENSP00000354893:S198C	ENSP00000354893:S198C	S	+	2	0	TSC22D2	151610420	1.000000	0.71417	0.993000	0.49108	0.863000	0.49368	5.303000	0.65738	1.833000	0.53350	0.650000	0.86243	TCC		0.597	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		G	150127730	C	G	150127730	3	3	177	1	0	0	0	0	1	0	0	0	16608	855	30	3	595	3	TSC22D2	3	150127730	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	17693800	150127730	47894700	15	10044											
UGT2B10	7365	broad.mit.edu	37	4	69682127	69682127	+	Silent	SNP	T	T	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr4:69682127T>C	ENST00000265403.7	+	1	417	c.390T>C	c.(388-390)gtT>gtC	p.V130V	UGT2B10_ENST00000458688.2_Silent_p.V130V	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	130					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V130V(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAGATGTAGTTTCAAATAAGA	0.328																																					Melanoma(133;755 1763 25578 26334 46021)											1	Substitution - coding silent(1)	ovary(1)	4											48	52	51					4																	69682127		2161	4274	6435	69716716	SO:0001819	synonymous_variant	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.390T>C	4.37:g.69682127T>C			69716716	A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37																																																																																					0.328	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		C	69682127	T	C	69682127	2	2	177	1	0	0	0	0	0	0	0	1	16956	1828	64	4		4	UGT2B10	4	69682127	Silent	SNP	T	TCGA-23-1031-01A-01W-0486-08		69682127	121472149	16	10045											
PPP3CA	5530	broad.mit.edu	37	4	102004363	102004363	+	Silent	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr4:102004363G>C	ENST00000394854.3	-	7	1523	c.840C>G	c.(838-840)gcC>gcG	p.A280A	PPP3CA_ENST00000523694.2_Silent_p.A213A|PPP3CA_ENST00000394853.4_Silent_p.A280A|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Silent_p.A280A|PPP3CA_ENST00000507176.1_Silent_p.A182A	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	280	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.A280A(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GGGCTTCGTGGGCTCGGAGTA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	4											274	286	282					4																	102004363		2203	4300	6503	102223386	SO:0001819	synonymous_variant	5530				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.840C>G	4.37:g.102004363G>C			102223386	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	ENST00000394854.3	37	CCDS34037.1																																																																																				0.433	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		C	102004363	G	C	102004363	2	2	177	1	0	0	0	0	0	0	0	1	12400	1219	43	3		3	PPP3CA	4	102004363	Silent	SNP	G	TCGA-23-1031-01A-01W-0486-08	32322236	102004363	89149913	17	10046											
HIST1H3J	8356	broad.mit.edu	37	6	27858544	27858544	+	Silent	SNP	G	G	C	rs547660432	byFrequency	TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr6:27858544G>C	ENST00000359303.2	-	1	26	c.27C>G	c.(25-27)cgC>cgG	p.R9R	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	9					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R9R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CGGTAGACTTGCGAGCTGTCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	6											30	33	32					6																	27858544		2195	4290	6485	27966523	SO:0001819	synonymous_variant	8356			Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"Histones / Replication-dependent"	4774	protein-coding gene	gene with protein product		602817	"H3 histone family, member J", "histone 1, H3j"	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.27C>G	6.37:g.27858544G>C			27966523	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000359303.2	37	CCDS4638.1																																																																																				0.572	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		C	27858544	G	C	27858544	2	2	177	1	0	0	0	0	0	0	0	1	7164	1306	46	3		3	HIST1H3J	6	27858544	Silent	SNP	G	TCGA-23-1031-01A-01W-0486-08		27858544	143256523	18	10047											
RPP21	79897	broad.mit.edu	37	6	30314294	30314294	+	Silent	SNP	C	C	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr6:30314294C>A	ENST00000442966.2	+	4	340	c.327C>A	c.(325-327)ctC>ctA	p.L109L	RPP21_ENST00000428040.2_Silent_p.L132L|RPP21_ENST00000433076.2_Silent_p.L117L|TRIM39-RPP21_ENST00000513556.1_Silent_p.L370L|RPP21_ENST00000436442.2_Silent_p.L109L			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	109					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)	p.L109L(1)		endometrium(2)|ovary(1)|prostate(1)	4						GGCATTTACTCTGGGGAGACA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	6											58	55	56					6																	30314294		2203	4300	6503	30422273	SO:0001819	synonymous_variant	79897			AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.327C>A	6.37:g.30314294C>A			30422273	A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Silent	SNP	ENST00000442966.2	37	CCDS4679.1																																																																																				0.597	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		A	30314294	C	A	30314294	2	1	177	1	0	0	0	0	0	0	0	1	13613	900	32	3		3	RPP21	6	30314294	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	2455750	30314294	140800773	19	10048											
EYS	346007	broad.mit.edu	37	6	66115118	66115118	+	Missense_Mutation	SNP	C	C	G	rs80095433	byFrequency	TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr6:66115118C>G	ENST00000370621.3	-	6	1531	c.1005G>C	c.(1003-1005)gaG>gaC	p.E335D	EYS_ENST00000503581.1_Missense_Mutation_p.E335D|EYS_ENST00000393380.2_Missense_Mutation_p.E335D|EYS_ENST00000370616.2_Missense_Mutation_p.E335D|EYS_ENST00000370618.3_Missense_Mutation_p.E335D|EYS_ENST00000342421.5_Missense_Mutation_p.E335D			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	335	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E335D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTAATGAAAACTCACTGACAT	0.333																																																1	Substitution - Missense(1)	ovary(1)	6											121	121	121					6																	66115118		2203	4300	6503	66171839	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1005G>C	6.37:g.66115118C>G	ENSP00000359655:p.Glu335Asp		66171839	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	2.664	-0.279155	0.05642	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;T;T;T	0.86694	-2.16;-2.16;-2.16;1.45;1.45;1.45	4.89	-3.98	0.04082	.	.	.	.	.	T	0.58119	0.2100	L	0.42581	1.335	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.40869	-0.9540	9	0.29301	T	0.29	.	1.8166	0.03102	0.1702:0.2802:0.1096:0.4401	.	335;335;335	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	D	335	ENSP00000424243:E335D;ENSP00000359655:E335D;ENSP00000359650:E335D;ENSP00000377042:E335D;ENSP00000341818:E335D;ENSP00000359652:E335D	ENSP00000341818:E335D	E	-	3	2	EYS	66171839	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.429000	0.02437	-1.075000	0.03129	-1.363000	0.01210	GAG		0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	66115118	C	G	66115118	3	3	177	1	0	0	0	0	1	0	0	0	5332	564	20	3	8543	3	EYS	6	66115118	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	35800824	66115118	104999949	20	10049											
IMPG1	3617	broad.mit.edu	37	6	76660659	76660659	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr6:76660659G>A	ENST00000369950.3	-	13	1633	c.1444C>T	c.(1444-1446)Ccc>Tcc	p.P482S	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.P482S(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCACTGGTGGGGATGGTGAGC	0.488																																					Pancreas(37;839 1141 2599 26037)											1	Substitution - Missense(1)	ovary(1)	6											175	167	170					6																	76660659		2203	4300	6503	76717379	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1444C>T	6.37:g.76660659G>A	ENSP00000358966:p.Pro482Ser		76717379		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137820	0.56936	.	.	ENSG00000112706	ENST00000369950	T	0.34275	1.37	5.6	2.79	0.32731	.	0.101557	0.44097	N	0.000490	T	0.20373	0.0490	M	0.63843	1.955	0.80722	D	1	P	0.37330	0.59	B	0.40602	0.334	T	0.02983	-1.1086	10	0.52906	T	0.07	.	6.4715	0.22011	0.0712:0.1317:0.6602:0.1369	.	482	Q17R60	IMPG1_HUMAN	S	482	ENSP00000358966:P482S	ENSP00000358966:P482S	P	-	1	0	IMPG1	76717379	0.883000	0.30277	0.029000	0.17559	0.110000	0.19582	2.132000	0.42083	0.278000	0.22164	-0.156000	0.13503	CCC		0.488	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76660659	G	A	76660659	3	1	177	1	0	0	0	0	1	0	0	0	7728	1232	43	2	969	2	IMPG1	6	76660659	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	10545541	76660659	94454408	21	10050											
ELOVL4	6785	broad.mit.edu	37	6	80631376	80631376	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr6:80631376C>A	ENST00000369816.4	-	4	807	c.507G>T	c.(505-507)tgG>tgT	p.W169C		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	169					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.W169C(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TTCCAATCCACCACAAGGTAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	6											142	132	135					6																	80631376		2203	4300	6503	80688095	SO:0001583	missense	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"cancer/testis antigen 118"	605512	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.507G>T	6.37:g.80631376C>A	ENSP00000358831:p.Trp169Cys		80688095	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205045	0.79127	.	.	ENSG00000118402	ENST00000369816	T	0.20738	2.05	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.52364	1.645	0.80722	D	1	P	0.40681	0.727	P	0.49085	0.6	T	0.00747	-1.1583	10	0.51188	T	0.08	-7.0251	18.0115	0.89225	0.0:1.0:0.0:0.0	.	169	Q9GZR5	ELOV4_HUMAN	C	169	ENSP00000358831:W169C	ENSP00000358831:W169C	W	-	3	0	ELOVL4	80688095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.558000	0.86282	0.591000	0.81541	TGG		0.378	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			A	80631376	C	A	80631376	3	1	177	1	0	0	0	0	1	0	0	0	5076	508	18	3	449	3	ELOVL4	6	80631376	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	3970717	80631376	90483691	22	10051											
HTR1E	3354	broad.mit.edu	37	6	87725323	87725323	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr6:87725323G>C	ENST00000305344.5	+	2	974	c.271G>C	c.(271-273)Ggg>Cgg	p.G91R		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	91					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.G91R(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTGGAAGCTTGGGTACTTCCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	6											151	129	137					6																	87725323		2203	4300	6503	87782042	SO:0001583	missense	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.271G>C	6.37:g.87725323G>C	ENSP00000307766:p.Gly91Arg		87782042	E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481000	0.63849	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.50548	0.74;0.74	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000013	T	0.71978	0.3404	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81033	-0.1116	10	0.72032	D	0.01	.	17.3338	0.87274	0.0:0.0:1.0:0.0	.	91	P28566	5HT1E_HUMAN	R	91	ENSP00000307766:G91R;ENSP00000358597:G91R	ENSP00000307766:G91R	G	+	1	0	HTR1E	87782042	1.000000	0.71417	0.989000	0.46669	0.570000	0.35934	9.219000	0.95173	2.085000	0.62840	0.404000	0.27445	GGG		0.562	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		C	87725323	G	C	87725323	3	2	177	1	0	0	0	0	1	0	0	0	7439	1348	47	3	273	3	HTR1E	6	87725323	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	7093947	87725323	83389744	23	10052											
TIAM2	26230	broad.mit.edu	37	6	155458322	155458322	+	Silent	SNP	C	C	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr6:155458322C>A	ENST00000461783.3	+	7	2479	c.1206C>A	c.(1204-1206)tcC>tcA	p.S402S	TIAM2_ENST00000318981.5_Silent_p.S402S|TIAM2_ENST00000529824.2_Silent_p.S402S|TIAM2_ENST00000456144.1_Silent_p.S402S|TIAM2_ENST00000360366.4_Silent_p.S402S|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	402					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S402S(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCGAGGTCCAAGGAGGGCA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	6											82	73	76					6																	155458322		2203	4300	6503	155500014	SO:0001819	synonymous_variant	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1206C>A	6.37:g.155458322C>A			155500014	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.517	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		A	155458322	C	A	155458322	2	1	177	1	0	0	0	0	0	0	0	1	15891	581	21	3		3	TIAM2	6	155458322	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	67732999	155458322	15656745	24	10053											
CPVL	54504	broad.mit.edu	37	7	29070326	29070326	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr7:29070326G>C	ENST00000409850.1	-	16	1833	c.1187C>G	c.(1186-1188)aCa>aGa	p.T396R	CPVL_ENST00000396276.3_Missense_Mutation_p.T396R|CPVL_ENST00000265394.5_Missense_Mutation_p.T396R			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	396						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.T396R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GGAGCGCTCTGTCAGGGCAGC	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											121	120	120					7																	29070326		2203	4300	6503	29036851	SO:0001583	missense	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1187C>G	7.37:g.29070326G>C	ENSP00000387164:p.Thr396Arg		29036851	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.51|13.51	2.257303|2.257303	0.39896|0.39896	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000432534|ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850	.|D;D;D;D	.|0.87029	.|-2.2;-2.2;-2.2;-2.2	5.71|5.71	3.92|3.92	0.45320|0.45320	.|.	.|0.097095	.|0.64402	.|D	.|0.000001	D|D	0.95389|0.95389	0.8503|0.8503	H|H	0.97315|0.97315	3.98|3.98	0.54753|0.54753	D|D	0.999987|0.999987	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	D|D	0.95341|0.95341	0.8438|0.8438	5|10	.|0.87932	.|D	.|0	-16.4966|-16.4966	11.384|11.384	0.49773|0.49773	0.1485:0.0:0.8515:0.0|0.1485:0.0:0.8515:0.0	.|.	.|396	.|Q9H3G5	.|CPVL_HUMAN	E|R	99|396;396;61;396	.|ENSP00000265394:T396R;ENSP00000379572:T396R;ENSP00000403580:T61R;ENSP00000387164:T396R	.|ENSP00000265394:T396R	D|T	-|-	3|2	2|0	CPVL|CPVL	29036851|29036851	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.042000|0.042000	0.13812|0.13812	4.655000|4.655000	0.61476|0.61476	0.770000|0.770000	0.33336|0.33336	-0.224000|-0.224000	0.12420|0.12420	GAC|ACA		0.463	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		C	29070326	G	C	29070326	3	2	177	1	0	0	0	0	1	0	0	0	3835	1377	48	3	251	3	CPVL	7	29070326	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08		29070326	130068337	25	10054											
KIAA1324L	222223	broad.mit.edu	37	7	86541404	86541404	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr7:86541404C>T	ENST00000450689.2	-	15	2338	c.2153G>A	c.(2152-2154)aGt>aAt	p.S718N	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S647N|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S551N|KIAA1324L_ENST00000490995.1_5'Flank|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S478N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	718						integral component of membrane (GO:0016021)		p.S478N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCCACATAAACTGATATTGAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											131	123	126					7																	86541404		2203	4300	6503	86379340	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2153G>A	7.37:g.86541404C>T	ENSP00000413445:p.Ser718Asn		86379340	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932537	0.73442	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.33438	1.66;1.41;4.37;1.43	5.82	5.82	0.92795	Mannose-6-phosphate receptor, binding (1);	0.037481	0.85682	D	0.000000	T	0.58836	0.2150	M	0.82630	2.6	0.80722	D	1	P;D;D	0.76494	0.92;0.999;0.999	P;D;D	0.63283	0.615;0.913;0.913	T	0.60301	-0.7290	10	0.51188	T	0.08	.	19.0848	0.93200	0.0:1.0:0.0:0.0	.	718;478;551	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	N	718;478;647;551	ENSP00000413445:S718N;ENSP00000297222:S478N;ENSP00000397377:S647N;ENSP00000402390:S551N	ENSP00000297222:S478N	S	-	2	0	KIAA1324L	86379340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	AGT		0.413	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		T	86541404	C	T	86541404	3	4	177	1	0	0	0	0	1	0	0	0	8224	565	20	2	968	2	KIAA1324L	7	86541404	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	57471078	86541404	72597259	26	10055											
CTTNBP2	83992	broad.mit.edu	37	7	117386110	117386110	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr7:117386110C>G	ENST00000160373.3	-	13	3483	c.3392G>C	c.(3391-3393)aGc>aCc	p.S1131T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1131					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.S1131T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTCTTGCAAGCTTCCTTCTGG	0.393											OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	ovary(1)	7											152	137	142					7																	117386110		2203	4300	6503	117173346	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3392G>C	7.37:g.117386110C>G	ENSP00000160373:p.Ser1131Thr	1480	117173346	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.18|19.18	3.778072|3.778072	0.70107|0.70107	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.61742	.|0.08	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.067229	.|0.85682	.|D	.|0.000000	T|T	0.67363|0.67363	0.2885|0.2885	M|M	0.71920|0.71920	2.185|2.185	0.49915|0.49915	D|D	0.999836|0.999836	.|P	.|0.50617	.|0.937	.|P	.|0.48654	.|0.585	T|T	0.65282|0.65282	-0.6206|-0.6206	5|10	.|0.38643	.|T	.|0.18	-13.2714|-13.2714	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1131	.|Q8WZ74	.|CTTB2_HUMAN	N|T	618|1131	.|ENSP00000160373:S1131T	.|ENSP00000160373:S1131T	K|S	-|-	3|2	2|0	CTTNBP2|CTTNBP2	117173346|117173346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.938000|5.938000	0.70170|0.70170	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	AAG|AGC		0.393	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		G	117386110	C	G	117386110	3	3	177	1	0	0	0	0	1	0	0	0	4045	797	28	3	1643	3	CTTNBP2	7	117386110	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	30844706	117386110	41752553	27	10056											
IQUB	154865	broad.mit.edu	37	7	123152133	123152133	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr7:123152133C>A	ENST00000466202.1	-	2	838	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000324698.6_Missense_Mutation_p.V88F	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	88					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.V88F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTATATGAAACTTGTCTTGGT	0.398																																																1	Substitution - Missense(1)	ovary(1)	7											238	202	214					7																	123152133		2203	4300	6503	122939369	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.262G>T	7.37:g.123152133C>A	ENSP00000417769:p.Val88Phe		122939369	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742963	0.30865	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.48522	1.83;1.83;0.81	5.1	2.13	0.27403	.	11.468500	0.00481	N	0.000138	T	0.34600	0.0903	N	0.19112	0.55	0.09310	N	1	B;B;B	0.33379	0.41;0.32;0.214	B;B;B	0.35510	0.204;0.192;0.07	T	0.19877	-1.0292	10	0.30854	T	0.27	.	4.1337	0.10160	0.1796:0.6169:0.0:0.2034	.	88;88;88	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	F	88	ENSP00000417769:V88F;ENSP00000324882:V88F;ENSP00000388498:V88F	ENSP00000324882:V88F	V	-	1	0	IQUB	122939369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.088000	0.11198	0.347000	0.23924	-0.355000	0.07637	GTT		0.398	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		A	123152133	C	A	123152133	3	1	177	1	0	0	0	0	1	0	0	0	7820	565	20	3	2161	3	IQUB	7	123152133	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	5766023	123152133	35986530	28	10057											
TTC26	79989	broad.mit.edu	37	7	138831941	138831941	+	Silent	SNP	C	C	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr7:138831941C>T	ENST00000464848.1	+	6	530	c.450C>T	c.(448-450)gtC>gtT	p.V150V	TTC26_ENST00000430935.1_Silent_p.V150V|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Silent_p.V150V|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000343187.4_Silent_p.V119V			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	150					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.V150V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TTCAGGATGTCACAGAAGATC	0.343																																																1	Substitution - coding silent(1)	ovary(1)	7											119	118	118					7																	138831941		2203	4300	6503	138482481	SO:0001819	synonymous_variant	79989			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.450C>T	7.37:g.138831941C>T			138482481	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	CCDS5852.1																																																																																				0.343	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		T	138831941	C	T	138831941	2	4	177	1	0	0	0	0	0	0	0	1	16694	813	29	2		2	TTC26	7	138831941	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	15679808	138831941	20306722	29	10058											
DUSP4	1846	broad.mit.edu	37	8	29203023	29203023	+	Intron	SNP	G	G	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr8:29203023G>A	ENST00000240100.2	-	1	823				DUSP4_ENST00000240101.2_Silent_p.N8N	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4						endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		ACTGGCTTCCGTTGGAGTGAA	0.532																																																0			8											137	136	136					8																	29203023		2203	4300	6503	29258942	SO:0001627	intron_variant	1846			U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.433+4339C>T	8.37:g.29203023G>A			29258942	B2RBU5|D3DSU4|G5E930|Q13524	Silent	SNP	ENST00000240100.2	37	CCDS6072.1																																																																																				0.532	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		A	29203023	G	A	29203023	1	1	177	0	1	0	0	0	0	0	0	0	4827	1136	40	1		1	DUSP4	8	29203023	Intron	SNP	G	TCGA-23-1031-01A-01W-0486-08		29203023	117160999	30	10059											
ZFPM2	23414	broad.mit.edu	37	8	106813579	106813579	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr8:106813579C>G	ENST00000407775.2	+	8	1519	c.1269C>G	c.(1267-1269)agC>agG	p.S423R	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S154R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S291R|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S291R|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	423					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S423R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCCCCAGAGCCAAAAGGCCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	8											63	64	64					8																	106813579		1964	4169	6133	106882755	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1269C>G	8.37:g.106813579C>G	ENSP00000384179:p.Ser423Arg		106882755	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872511	0.51695	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20881	2.04;2.52;2.52;3.72	5.97	4.13	0.48395	.	0.168138	0.64402	D	0.000003	T	0.26268	0.0641	L	0.43152	1.355	0.58432	D	0.999997	D	0.57899	0.981	P	0.55161	0.77	T	0.01935	-1.1244	10	0.27785	T	0.31	.	8.295	0.31980	0.1182:0.7038:0.1142:0.0638	.	423	Q8WW38	FOG2_HUMAN	R	423;291;291;154	ENSP00000384179:S423R;ENSP00000430757:S291R;ENSP00000428720:S291R;ENSP00000367733:S154R	ENSP00000367733:S154R	S	+	3	2	ZFPM2	106882755	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	2.085000	0.41634	1.495000	0.48549	0.655000	0.94253	AGC		0.488	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			G	106813579	C	G	106813579	3	3	177	1	0	0	0	0	1	0	0	0	17658	738	26	3	1299	3	ZFPM2	8	106813579	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	77610556	106813579	39550443	31	10060											
CNTFR	1271	broad.mit.edu	37	9	34564662	34564662	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr9:34564662C>G	ENST00000378980.3	-	4	547	c.254G>C	c.(253-255)gGc>gCc	p.G85A	CNTFR_ENST00000351266.4_Missense_Mutation_p.G85A	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	85	Ig-like C2-type.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.G85A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GGCGTAGAGGCCACTGTGGCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	9											93	76	82					9																	34564662		2203	4300	6503	34554662	SO:0001583	missense	1271			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.254G>C	9.37:g.34564662C>G	ENSP00000368265:p.Gly85Ala		34554662	Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294838	0.81025	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	D;D;T	0.88354	-2.37;-2.37;0.86	5.26	5.26	0.73747	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	M	0.80422	2.495	0.39396	D	0.966500	D	0.76494	0.999	D	0.80764	0.994	D	0.94182	0.7433	9	0.48119	T	0.1	.	16.3749	0.83382	0.0:1.0:0.0:0.0	.	85	P26992	CNTFR_HUMAN	A	85	ENSP00000368265:G85A;ENSP00000242338:G85A;ENSP00000388082:G85A	ENSP00000242338:G85A	G	-	2	0	CNTFR	34554662	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	5.677000	0.68142	2.453000	0.82957	0.467000	0.42956	GGC		0.642	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			G	34564662	C	G	34564662	3	3	177	1	0	0	0	0	1	0	0	0	3638	739	26	3	892	3	CNTFR	9	34564662	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08		34564662	106648769	32	10061											
SMC5	23137	broad.mit.edu	37	9	72939036	72939036	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr9:72939036T>C	ENST00000361138.5	+	17	2432	c.2374T>C	c.(2374-2376)Tct>Cct	p.S792P		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	792					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.S792P(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TATGGCCGCATCTTCACAACT	0.323																																																1	Substitution - Missense(1)	ovary(1)	9											70	75	73					9																	72939036		2203	4294	6497	72128856	SO:0001583	missense	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2374T>C	9.37:g.72939036T>C	ENSP00000354957:p.Ser792Pro		72128856	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.376210	0.61735	.	.	ENSG00000198887	ENST00000361138	T	0.18810	2.19	5.79	1.53	0.23141	RecF/RecN/SMC (1);	0.369709	0.30676	N	0.009116	T	0.27663	0.0680	L	0.48642	1.525	0.09310	N	1	D	0.67145	0.996	P	0.61800	0.894	T	0.02698	-1.1122	10	0.44086	T	0.13	-8.6914	4.8897	0.13721	0.3888:0.0:0.2248:0.3864	.	792	Q8IY18	SMC5_HUMAN	P	792	ENSP00000354957:S792P	ENSP00000354957:S792P	S	+	1	0	SMC5	72128856	0.041000	0.20044	0.397000	0.26308	0.123000	0.20343	1.475000	0.35409	0.964000	0.38108	0.482000	0.46254	TCT		0.323	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		C	72939036	T	C	72939036	3	2	177	1	0	0	0	0	1	0	0	0	14789	1435	50	4	2440	4	SMC5	9	72939036	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08	38374374	72939036	68274395	33	10062											
PSAT1	29968	broad.mit.edu	37	9	80943096	80943102	+	Frame_Shift_Del	DEL	AGGGCAT	AGGGCAT	-	rs200973599		TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	AGGGCAT	AGGGCAT	-	-	AGGGCAT	AGGGCAT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr9:80943096_80943102delAGGGCAT	ENST00000376588.3	+	8	1067_1073	c.999_1005delAGGGCAT	c.(997-1005)aaagggcatfs	p.KGH333fs	PSAT1_ENST00000347159.2_Intron	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	333					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)	p.H335fs*25(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TGTCCTTGAAAGGGCATAGGTGAGTAC	0.377																																					Colon(34;187 791 10662 18313 37609)											1	Deletion - Frameshift(1)	ovary(1)	9																																								80132922	SO:0001589	frameshift_variant	29968			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.999_1005delAGGGCAT	9.37:g.80943096_80943102delAGGGCAT	ENSP00000365773:p.Lys333fs		80132916	Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Frame_Shift_Del	DEL	ENST00000376588.3	37	CCDS6660.1																																																																																				0.377	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		-	80943102	AGGGCAT	-	80943096	7	5	177	1	0	1	0	1	0	0	0	0	12647	69	3	0	1029	0	PSAT1	9	80943096	Frame_Shift_Del	DEL	AGGGCAT	TCGA-23-1031-01A-01W-0486-08	8004060	80943096	60270335	34	10063											
RGS3	5998	broad.mit.edu	37	9	116224456	116224456	+	Silent	SNP	C	C	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr9:116224456C>T	ENST00000374140.2	+	4	599	c.390C>T	c.(388-390)atC>atT	p.I130I	RGS3_ENST00000317613.6_5'Flank|RGS3_ENST00000350696.5_Silent_p.I130I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	130					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.I26I(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGAAGAGGATCACGCATGCCA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	9											75	78	77					9																	116224456		2078	4217	6295	115264277	SO:0001819	synonymous_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.390C>T	9.37:g.116224456C>T			115264277	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																				0.537	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		T	116224456	C	T	116224456	2	4	177	1	0	0	0	0	0	0	0	1	13309	816	29	2		2	RGS3	9	116224456	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	35281360	116224456	24988975	35	10064											
C10orf113	387638	broad.mit.edu	37	10	21435304	21435304	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr10:21435304C>G	ENST00000534331.1	-	1	184	c.134G>C	c.(133-135)tGt>tCt	p.C45S	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.C35S|C10orf113_ENST00000529198.1_Missense_Mutation_p.C45S	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	45								p.C35S(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTCAGCCACACAAGAAAAAAA	0.438																																																2	Substitution - Missense(2)	ovary(2)	10											156	139	145					10																	21435304		2203	4300	6503	21475310	SO:0001583	missense	387638				CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.134G>C	10.37:g.21435304C>G	ENSP00000433646:p.Cys45Ser		21475310	B9EIM9|E9PRX7	Missense_Mutation	SNP	ENST00000534331.1	37	CCDS31162.2	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510259	0.27036	.	.	ENSG00000204683	ENST00000534331;ENST00000529198;ENST00000377118	T;T	0.38401	1.14;1.14	5.71	-3.02	0.05446	.	.	.	.	.	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23261	-1.0193	9	0.87932	D	0	.	4.246	0.10672	0.2034:0.5007:0.2065:0.0895	.	45	Q5VZT2	CJ113_HUMAN	S	45;45;35	ENSP00000433646:C45S;ENSP00000366322:C35S	ENSP00000366322:C35S	C	-	2	0	C10orf113	21475310	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.616000	0.05591	-0.229000	0.09854	0.655000	0.94253	TGT		0.438	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896		G	21435304	C	G	21435304	3	3	177	1	0	0	0	0	1	0	0	0	1584	478	17	3	376	3	C10orf113	10	21435304	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08		21435304	114099443	36	10065											
ARID5B	84159	broad.mit.edu	37	10	63850715	63850715	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr10:63850715A>T	ENST00000279873.7	+	10	1903	c.1493A>T	c.(1492-1494)gAa>gTa	p.E498V	ARID5B_ENST00000309334.5_Missense_Mutation_p.E255V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	498					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.E498V(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAAAAAATAGAAGGGTATCAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	10											77	78	78					10																	63850715		2203	4300	6503	63520721	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1493A>T	10.37:g.63850715A>T	ENSP00000279873:p.Glu498Val		63520721	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829615	0.32329	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.50001	0.76;0.76	5.57	5.57	0.84162	.	0.196250	0.52532	D	0.000069	T	0.38532	0.1044	L	0.29908	0.895	0.47905	D	0.999542	P	0.35033	0.481	B	0.34038	0.174	T	0.27020	-1.0086	10	0.44086	T	0.13	-14.5936	16.0216	0.80499	1.0:0.0:0.0:0.0	.	498	Q14865	ARI5B_HUMAN	V	498;255	ENSP00000279873:E498V;ENSP00000308862:E255V	ENSP00000279873:E498V	E	+	2	0	ARID5B	63520721	1.000000	0.71417	0.996000	0.52242	0.422000	0.31414	6.258000	0.72487	2.242000	0.73789	0.533000	0.62120	GAA		0.463	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		T	63850715	A	T	63850715	3	4	177	1	0	0	0	0	1	0	0	0	922	246	9	5	1531	5	ARID5B	10	63850715	Missense_Mutation	SNP	A	TCGA-23-1031-01A-01W-0486-08	42415411	63850715	71684032	37	10066											
NLRP14	338323	broad.mit.edu	37	11	7071013	7071013	+	Silent	SNP	A	A	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr11:7071013A>T	ENST00000299481.4	+	6	2581	c.2235A>T	c.(2233-2235)ggA>ggT	p.G745G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	745					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.G745G(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGATAATGGAGTAAAGTCAT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	11											205	189	194					11																	7071013		2201	4296	6497	7027589	SO:0001819	synonymous_variant	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2235A>T	11.37:g.7071013A>T			7027589	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																				0.373	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		T	7071013	A	T	7071013	2	4	177	1	0	0	0	0	0	0	0	1	10476	291	11	5		5	NLRP14	11	7071013	Silent	SNP	A	TCGA-23-1031-01A-01W-0486-08		7071013	127935503	38	10067											
FNBP4	23360	broad.mit.edu	37	11	47755636	47755636	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr11:47755636A>C	ENST00000263773.5	-	10	1639	c.1627T>G	c.(1627-1629)Ttt>Gtt	p.F543V	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	543						nucleus (GO:0005634)		p.F543V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ATGCCTAGAAACTCGAATTTA	0.323																																																1	Substitution - Missense(1)	ovary(1)	11											112	110	111					11																	47755636		1836	4093	5929	47712212	SO:0001583	missense	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1627T>G	11.37:g.47755636A>C	ENSP00000263773:p.Phe543Val		47712212	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721092	0.89205	.	.	ENSG00000109920	ENST00000263773	T	0.10573	2.86	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01013	-1.1481	10	0.87932	D	0	-11.8796	16.542	0.84395	1.0:0.0:0.0:0.0	.	543	Q8N3X1	FNBP4_HUMAN	V	543	ENSP00000263773:F543V	ENSP00000263773:F543V	F	-	1	0	FNBP4	47712212	1.000000	0.71417	0.962000	0.40283	0.768000	0.43524	9.313000	0.96297	2.304000	0.77564	0.528000	0.53228	TTT		0.323	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			C	47755636	A	C	47755636	3	2	177	1	0	0	0	0	1	0	0	0	5967	43	2	5	1458	5	FNBP4	11	47755636	Missense_Mutation	SNP	A	TCGA-23-1031-01A-01W-0486-08	40684623	47755636	87250880	39	10068											
COPS7A	50813	broad.mit.edu	37	12	6838552	6838552	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr12:6838552A>G	ENST00000543155.1	+	5	949	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	COPS7A_ENST00000229251.3_Missense_Mutation_p.Y156C|COPS7A_ENST00000534877.1_Missense_Mutation_p.Y156C|COPS7A_ENST00000534947.1_Missense_Mutation_p.Y156C|COPS7A_ENST00000539735.1_Missense_Mutation_p.Y156C|COPS7A_ENST00000538410.1_Missense_Mutation_p.Y156C|COPS7A_ENST00000542150.1_3'UTR	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	156	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.Y156C(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						GAGGTTGACTACAGCATCGGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	12											133	101	112					12																	6838552		2203	4300	6503	6708813	SO:0001583	missense	50813			AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A", "COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.467A>G	12.37:g.6838552A>G	ENSP00000438115:p.Tyr156Cys		6708813	A8K9A6|Q9NVX3|Q9UJW4	Missense_Mutation	SNP	ENST00000543155.1	37	CCDS8558.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890508	0.52014	.	.	ENSG00000111652	ENST00000543155;ENST00000442593;ENST00000229251;ENST00000539735;ENST00000538410;ENST00000534947;ENST00000541866;ENST00000534877;ENST00000538753	.	.	.	5.39	5.39	0.77823	Proteasome component (PCI) domain (1);	0.057279	0.64402	D	0.000001	T	0.53417	0.1795	L	0.45470	1.425	0.50467	D	0.999879	P;B	0.36249	0.545;0.426	B;B	0.40659	0.191;0.336	T	0.55360	-0.8153	9	0.45353	T	0.12	-17.0141	10.627	0.45512	0.8568:0.0:0.0:0.1432	.	156;156	F5H248;Q9UBW8	.;CSN7A_HUMAN	C	156	.	ENSP00000229251:Y156C	Y	+	2	0	COPS7A	6708813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.741000	0.47426	2.043000	0.60533	0.533000	0.62120	TAC		0.607	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402740.1			G	6838552	A	G	6838552	3	3	177	1	0	0	0	0	1	0	0	0	3738	391	14	4	481	4	COPS7A	12	6838552	Missense_Mutation	SNP	A	TCGA-23-1031-01A-01W-0486-08		6838552	127013343	40	10069											
CD163	9332	broad.mit.edu	37	12	7640087	7640087	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr12:7640087T>C	ENST00000359156.4	-	8	2120	c.1918A>G	c.(1918-1920)Aaa>Gaa	p.K640E	CD163_ENST00000541972.1_Missense_Mutation_p.K628E|CD163_ENST00000396620.3_Missense_Mutation_p.K673E|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.K640E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	640	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.K640E(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCATTTCCTTTTCCAAAACGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											153	139	144					12																	7640087		2203	4300	6503	7531354	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1918A>G	12.37:g.7640087T>C	ENSP00000352071:p.Lys640Glu		7531354	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.592849	0.00864	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.14	3.97	0.46021	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.468250	0.23033	N	0.052706	T	0.15652	0.0377	N	0.11673	0.155	0.26106	N	0.980747	B;B;B	0.34147	0.305;0.008;0.438	B;B;B	0.36030	0.216;0.019;0.216	T	0.28681	-1.0036	10	0.02654	T	1	.	6.8806	0.24170	0.0:0.1766:0.0:0.8234	.	673;640;640	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	E	640;628;673;640	ENSP00000352071:K640E;ENSP00000444071:K628E;ENSP00000379863:K673E;ENSP00000403885:K640E	ENSP00000352071:K640E	K	-	1	0	CD163	7531354	0.000000	0.05858	1.000000	0.80357	0.135000	0.20990	-0.630000	0.05502	2.070000	0.61991	0.533000	0.62120	AAA		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		C	7640087	T	C	7640087	3	2	177	1	0	0	0	0	1	0	0	0	2967	1850	64	4	1588	4	CD163	12	7640087	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08	801535	7640087	126211808	41	10070											
C12orf40	283461	broad.mit.edu	37	12	40076823	40076823	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr12:40076823G>T	ENST00000324616.5	+	8	1251	c.1097G>T	c.(1096-1098)aGt>aTt	p.S366I	C12orf40_ENST00000405531.3_Missense_Mutation_p.S366I|C12orf40_ENST00000398716.1_Missense_Mutation_p.S289I	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	366								p.S366I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AATAAAACAAGTTATCCAGAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	12											43	40	41					12																	40076823		1823	4066	5889	38363090	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1097G>T	12.37:g.40076823G>T	ENSP00000317671:p.Ser366Ile		38363090	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.119897	0.37436	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.54866	0.55;0.55	5.04	0.134	0.14771	.	0.662123	0.14502	N	0.315652	T	0.48732	0.1516	L	0.32530	0.975	0.09310	N	1	P	0.52061	0.95	P	0.53809	0.735	T	0.39583	-0.9607	10	0.66056	D	0.02	.	7.4462	0.27213	0.5424:0.0:0.4576:0.0	.	366	Q86WS4	CL040_HUMAN	I	366;289;366	ENSP00000383897:S366I;ENSP00000317671:S366I	ENSP00000317671:S366I	S	+	2	0	C12orf40	38363090	0.000000	0.05858	0.001000	0.08648	0.591000	0.36615	-0.118000	0.10692	0.101000	0.17610	0.591000	0.81541	AGT		0.323	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		T	40076823	G	T	40076823	3	4	177	1	0	0	0	0	1	0	0	0	1686	1029	36	3	1127	3	C12orf40	12	40076823	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	32436736	40076823	93775072	42	10071											
C12orf40	283461	broad.mit.edu	37	12	40114805	40114805	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr12:40114805T>G	ENST00000324616.5	+	13	1865	c.1711T>G	c.(1711-1713)Tgc>Ggc	p.C571G		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	571								p.C571G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACAGTTGCAGTGCAATTCAGC	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											95	90	92					12																	40114805		1922	4136	6058	38401072	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1711T>G	12.37:g.40114805T>G	ENSP00000317671:p.Cys571Gly		38401072	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474608	0.26511	.	.	ENSG00000180116	ENST00000324616	T	0.50277	0.75	4.95	0.83	0.18854	.	0.543405	0.18058	N	0.153036	T	0.29458	0.0734	L	0.32530	0.975	0.24512	N	0.994207	B	0.14012	0.009	B	0.16289	0.015	T	0.22068	-1.0227	10	0.62326	D	0.03	.	1.465	0.02404	0.2136:0.0941:0.159:0.5333	.	571	Q86WS4	CL040_HUMAN	G	571	ENSP00000317671:C571G	ENSP00000317671:C571G	C	+	1	0	C12orf40	38401072	0.000000	0.05858	0.077000	0.20336	0.012000	0.07955	-0.490000	0.06482	0.023000	0.15187	0.477000	0.44152	TGC		0.383	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		G	40114805	T	G	40114805	3	3	177	1	0	0	0	0	1	0	0	0	1686	1696	59	5	1761	5	C12orf40	12	40114805	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08	37982	40114805	93737090	43	10072											
KRT79	338785	broad.mit.edu	37	12	53227730	53227730	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr12:53227730A>T	ENST00000330553.5	-	1	349	c.315T>A	c.(313-315)ttT>ttA	p.F105L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	105	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.F105L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCAGGCCCAAACGTCTGCC	0.647																																																1	Substitution - Missense(1)	ovary(1)	12											45	47	46					12																	53227730		2203	4300	6503	51513997	SO:0001583	missense	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.315T>A	12.37:g.53227730A>T	ENSP00000328358:p.Phe105Leu		51513997	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	A	0.027	-1.358942	0.01245	.	.	ENSG00000185640	ENST00000330553	T	0.76839	-1.05	4.02	-5.18	0.02840	.	0.131398	0.35067	N	0.003476	T	0.50786	0.1636	N	0.25789	0.76	0.20074	N	0.999937	B	0.02656	0.0	B	0.01281	0.0	T	0.45512	-0.9256	10	0.10902	T	0.67	.	3.3336	0.07093	0.6015:0.1865:0.1183:0.0936	.	105	Q5XKE5	K2C79_HUMAN	L	105	ENSP00000328358:F105L	ENSP00000328358:F105L	F	-	3	2	KRT79	51513997	0.003000	0.15002	0.207000	0.23584	0.017000	0.09413	-1.222000	0.02965	-0.901000	0.03891	-0.936000	0.02699	TTT		0.647	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		T	53227730	A	T	53227730	3	4	177	1	0	0	0	0	1	0	0	0	8492	127	5	5	1328	5	KRT79	12	53227730	Missense_Mutation	SNP	A	TCGA-23-1031-01A-01W-0486-08	13112925	53227730	80624165	44	10073											
LRRIQ1	84125	broad.mit.edu	37	12	85500303	85500303	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr12:85500303T>C	ENST00000393217.2	+	15	3348	c.3287T>C	c.(3286-3288)cTt>cCt	p.L1096P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1096								p.L1096P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTGTAGATCTTAAAAGTGCC	0.328																																																1	Substitution - Missense(1)	ovary(1)	12											110	110	110					12																	85500303		2203	4299	6502	84024434	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3287T>C	12.37:g.85500303T>C	ENSP00000376910:p.Leu1096Pro		84024434	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581955	0.46006	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.62105	0.05	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000006	T	0.77942	0.4206	M	0.75085	2.285	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.72982	0.92;0.979	T	0.81309	-0.0991	10	0.87932	D	0	.	14.7093	0.69215	0.0:0.0:0.0:1.0	.	1096;1071	Q96JM4;C9JI57	LRIQ1_HUMAN;.	P	1096;1071;1096	ENSP00000376910:L1096P	ENSP00000256007:L1096P	L	+	2	0	LRRIQ1	84024434	1.000000	0.71417	0.998000	0.56505	0.113000	0.19764	2.385000	0.44371	2.106000	0.64143	0.455000	0.32223	CTT		0.328	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		C	85500303	T	C	85500303	3	2	177	1	0	0	0	0	1	0	0	0	9029	1609	56	4	3341	4	LRRIQ1	12	85500303	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08	32272573	85500303	48351592	45	10074											
RPH3A	22895	broad.mit.edu	37	12	113285632	113285632	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr12:113285632A>T	ENST00000389385.4	+	5	712	c.215A>T	c.(214-216)gAg>gTg	p.E72V	RPH3A_ENST00000551052.1_Missense_Mutation_p.E68V|RPH3A_ENST00000543106.2_Missense_Mutation_p.E72V|RPH3A_ENST00000420983.2_Missense_Mutation_p.E72V|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Missense_Mutation_p.E72V	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	72	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.E68V(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GAAGAGATGGAGCAGGAGCGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											86	69	75					12																	113285632		2203	4300	6503	111770015	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.215A>T	12.37:g.113285632A>T	ENSP00000374036:p.Glu72Val		111770015	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503697	0.85176	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000420983	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.07	5.07	0.68467	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000008	D	0.92283	0.7552	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.92818	0.6270	9	.	.	.	.	14.1061	0.65091	1.0:0.0:0.0:0.0	.	72;72;68	B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	V	72;72;72;72;72;72;72;72;72;72;72;5;72;68;72;72;72	ENSP00000446570:E72V;ENSP00000449705:E72V;ENSP00000440384:E72V;ENSP00000446780:E72V;ENSP00000447306:E72V;ENSP00000446556:E72V;ENSP00000450382:E72V;ENSP00000449613:E72V;ENSP00000447505:E72V;ENSP00000449650:E72V;ENSP00000374036:E72V;ENSP00000448100:E5V;ENSP00000447083:E72V;ENSP00000448297:E68V;ENSP00000405357:E72V;ENSP00000450216:E72V;ENSP00000408889:E72V	.	E	+	2	0	RPH3A	111770015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.325000	0.90007	2.017000	0.59298	0.533000	0.62120	GAG		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		T	113285632	A	T	113285632	3	4	177	1	0	0	0	0	1	0	0	0	13554	304	11	5	225	5	RPH3A	12	113285632	Missense_Mutation	SNP	A	TCGA-23-1031-01A-01W-0486-08	27785329	113285632	20566263	46	10075											
CIT	11113	broad.mit.edu	37	12	120151400	120151400	+	Missense_Mutation	SNP	C	C	T	rs370080702		TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr12:120151400C>T	ENST00000261833.7	-	33	4286	c.4234G>A	c.(4234-4236)Ggc>Agc	p.G1412S	CIT_ENST00000392521.2_Missense_Mutation_p.G1454S|CIT_ENST00000537607.1_5'UTR|MIR1178_ENST00000408396.1_RNA	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1412					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G1440S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCAGGCAAGCCGCAGGTGGCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	12						C	SER/GLY,SER/GLY	0,4406		0,0,2203	89	77	81		4360,4234	6.1	1	12		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CIT	NM_001206999.1,NM_007174.2	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1454/2070,1412/2028	120151400	1,13005	2203	4300	6503	118635783	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4234G>A	12.37:g.120151400C>T	ENSP00000261833:p.Gly1412Ser		118635783	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	35	5.525819	0.96431	0.0	1.16E-4	ENSG00000122966	ENST00000392521;ENST00000261833	D;D	0.84516	-1.86;-1.86	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.993	D	0.93270	0.6651	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1454;1412;930	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	S	1454;1412	ENSP00000376306:G1454S;ENSP00000261833:G1412S	ENSP00000261833:G1412S	G	-	1	0	CIT	118635783	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.610000	0.82949	2.884000	0.98904	0.655000	0.94253	GGC		0.577	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120151400	C	T	120151400	3	4	177	1	0	0	0	0	1	0	0	0	3438	652	23	1	1909	1	CIT	12	120151400	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	6865768	120151400	13700495	47	10076											
PABPC3	5042	broad.mit.edu	37	13	25671197	25671197	+	Missense_Mutation	SNP	G	G	C	rs139504722		TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr13:25671197G>C	ENST00000281589.3	+	1	898	c.861G>C	c.(859-861)agG>agC	p.R287S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	287					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.R287S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGCAAGATAGGATCACCAGAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	13						G	SER/ARG	0,4406		0,0,2203	187	180	182		861	0.9	1	13	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	no	missense	PABPC3	NM_030979.2	110	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging	287/632	25671197	1,13005	2203	4300	6503	24569197	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.861G>C	13.37:g.25671197G>C	ENSP00000281589:p.Arg287Ser		24569197	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189286	0.38707	0.0	1.16E-4	ENSG00000151846	ENST00000281589	T	0.29655	1.56	0.875	0.875	0.19130	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.45126	U	0.000389	T	0.45975	0.1369	M	0.88241	2.94	0.43175	D	0.994981	P	0.51240	0.943	P	0.54210	0.745	T	0.48502	-0.9030	10	0.87932	D	0	.	4.7628	0.13116	0.0:0.4037:0.5962:0.0	.	287	Q9H361	PABP3_HUMAN	S	287	ENSP00000281589:R287S	ENSP00000281589:R287S	R	+	3	2	PABPC3	24569197	1.000000	0.71417	0.983000	0.44433	0.693000	0.40251	0.640000	0.24705	0.759000	0.33084	0.313000	0.20887	AGG		0.403	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		C	25671197	G	C	25671197	3	2	177	1	0	0	0	0	1	0	0	0	11365	1165	41	3	863	3	PABPC3	13	25671197	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08		25671197	89498681	48	10077											
ESD	2098	broad.mit.edu	37	13	47361169	47361169	+	Silent	SNP	C	C	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr13:47361169C>A	ENST00000378720.3	-	4	326	c.144G>T	c.(142-144)ctG>ctT	p.L48L	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Silent_p.L19L	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	48					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)	p.L48L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	AGAGCCAATACAGTGCAGGGC	0.338																																																1	Substitution - coding silent(1)	ovary(1)	13											80	73	76					13																	47361169		2203	4300	6503	46259170	SO:0001819	synonymous_variant	2098			M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.144G>T	13.37:g.47361169C>A			46259170	Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Silent	SNP	ENST00000378720.3	37	CCDS9404.1																																																																																				0.338	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			A	47361169	C	A	47361169	2	1	177	1	0	0	0	0	0	0	0	1	5250	465	17	3		3	ESD	13	47361169	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	21689972	47361169	67808709	49	10078											
KLF5	688	broad.mit.edu	37	13	73636580	73636580	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr13:73636580G>T	ENST00000377687.4	+	2	1379	c.843G>T	c.(841-843)atG>atT	p.M281I	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.M190I	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	281					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)	p.M281fs*43(1)|p.M281I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCCAGGGCATGCCCCCTTGCA	0.512																																																2	Substitution - Missense(1)|Insertion - Frameshift(1)	ovary(1)|prostate(1)	13											108	94	99					13																	73636580		2203	4300	6503	72534581	SO:0001583	missense	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.843G>T	13.37:g.73636580G>T	ENSP00000366915:p.Met281Ile		72534581	L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902090	0.17760	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.06608	3.43;3.28	5.94	5.05	0.67936	.	0.221845	0.56097	D	0.000028	T	0.02929	0.0087	N	0.04508	-0.205	0.33952	D	0.644536	B	0.02656	0.0	B	0.01281	0.0	T	0.39961	-0.9588	10	0.19147	T	0.46	.	8.9493	0.35779	0.0:0.2961:0.4766:0.2274	.	281	Q13887	KLF5_HUMAN	I	190;281;261	ENSP00000440407:M190I;ENSP00000366915:M281I	ENSP00000366915:M281I	M	+	3	0	KLF5	72534581	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.599000	0.36751	2.816000	0.96949	0.561000	0.74099	ATG		0.512	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			T	73636580	G	T	73636580	3	4	177	1	0	0	0	0	1	0	0	0	8349	1319	46	3	849	3	KLF5	13	73636580	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	26275411	73636580	41533298	50	10079											
PNN	5411	broad.mit.edu	37	14	39650221	39650221	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr14:39650221T>A	ENST00000216832.4	+	9	1375	c.1308T>A	c.(1306-1308)gaT>gaA	p.D436E	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	436	Glu-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.D436E(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTGAGCCAGATAAAGAATGTA	0.383																																																1	Substitution - Missense(1)	ovary(1)	14											63	67	66					14																	39650221		2203	4300	6503	38719972	SO:0001583	missense	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1308T>A	14.37:g.39650221T>A	ENSP00000216832:p.Asp436Glu		38719972	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	T	5.569	0.289901	0.10567	.	.	ENSG00000100941	ENST00000216832	T	0.35421	1.31	5.9	1.24	0.21308	.	0.537042	0.21477	N	0.073897	T	0.08403	0.0209	N	0.01297	-0.9	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32052	-0.9921	10	0.02654	T	1	-11.0169	3.249	0.06807	0.1621:0.0705:0.3469:0.4205	.	436	Q9H307	PININ_HUMAN	E	436	ENSP00000216832:D436E	ENSP00000216832:D436E	D	+	3	2	PNN	38719972	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.327000	0.19663	1.022000	0.39626	0.528000	0.53228	GAT		0.383	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		A	39650221	T	A	39650221	3	1	177	1	0	0	0	0	1	0	0	0	12160	1403	49	5	1342	5	PNN	14	39650221	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08		39650221	67699319	51	10080											
KIAA0586	9786	broad.mit.edu	37	14	58938975	58938975	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr14:58938975A>G	ENST00000556134.1	+	19	2841	c.2567A>G	c.(2566-2568)gAt>gGt	p.D856G	KIAA0586_ENST00000261244.5_Missense_Mutation_p.D795G|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D924G|KIAA0586_ENST00000423743.3_Missense_Mutation_p.D827G|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	856					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.D924G(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTAACTTTGATGAAATAATC	0.338																																																1	Substitution - Missense(1)	ovary(1)	14											54	51	52					14																	58938975		1816	4065	5881	58008728	SO:0001583	missense	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2567A>G	14.37:g.58938975A>G	ENSP00000452351:p.Asp856Gly		58008728	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763629	0.69878	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.76	5.76	0.90799	.	0.289314	0.34700	N	0.003749	T	0.65688	0.2715	.	.	.	0.32386	N	0.55394	P;D;D;D;D;D	0.71674	0.925;0.961;0.993;0.998;0.961;0.961	P;P;D;D;P;P	0.81914	0.691;0.691;0.91;0.995;0.691;0.691	T	0.75728	-0.3216	9	0.72032	D	0.01	.	9.3411	0.38080	0.8403:0.0:0.0:0.1597	.	731;731;924;795;856;827	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	G	924;856;827;795;731	ENSP00000346359:D924G;ENSP00000452351:D856G;ENSP00000399427:D827G;ENSP00000261244:D795G	ENSP00000261244:D795G	D	+	2	0	KIAA0586	58008728	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.688000	0.46984	2.191000	0.70037	0.482000	0.46254	GAT		0.338	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		G	58938975	A	G	58938975	3	3	177	1	0	0	0	0	1	0	0	0	8186	333	12	4	2450	4	KIAA0586	14	58938975	Missense_Mutation	SNP	A	TCGA-23-1031-01A-01W-0486-08	19288754	58938975	48410565	52	10081											
GPR176	11245	broad.mit.edu	37	15	40093611	40093611	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr15:40093611G>T	ENST00000561100.1	-	3	2135	c.1270C>A	c.(1270-1272)Ccc>Acc	p.P424T	GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000543580.1_Missense_Mutation_p.P379T|GPR176_ENST00000299092.3_Missense_Mutation_p.P423T|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	424					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.P424T(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GTGCTCAGGGGTGGGGCAGAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	15											129	129	129					15																	40093611		2203	4300	6503	37880903	SO:0001583	missense	11245			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1270C>A	15.37:g.40093611G>T	ENSP00000453076:p.Pro424Thr		37880903	Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269149	0.40095	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.81163	-1.46	6.17	6.17	0.99709	.	0.166440	0.53938	D	0.000045	T	0.80747	0.4682	L	0.43923	1.385	0.48632	D	0.999682	P	0.41214	0.742	P	0.45119	0.47	T	0.75772	-0.3200	10	0.27785	T	0.31	-16.8021	20.8794	0.99867	0.0:0.0:1.0:0.0	.	424	Q14439	GP176_HUMAN	T	424;379	ENSP00000439361:P379T	ENSP00000299092:P424T	P	-	1	0	GPR176	37880903	1.000000	0.71417	0.790000	0.31976	0.044000	0.14063	7.787000	0.85759	2.941000	0.99782	0.655000	0.94253	CCC		0.582	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		T	40093611	G	T	40093611	3	4	177	1	0	0	0	0	1	0	0	0	6673	1261	44	3	281	3	GPR176	15	40093611	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08		40093611	62437781	53	10082											
TYRO3	7301	broad.mit.edu	37	15	41859592	41859592	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr15:41859592C>G	ENST00000263798.3	+	7	1042	c.818C>G	c.(817-819)gCt>gGt	p.A273G	TYRO3_ENST00000559066.1_Missense_Mutation_p.A228G	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	273	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A265G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAAGTCCTGGCTGTTGTGGTC	0.597																																																1	Substitution - Missense(1)	ovary(1)	15											79	84	82					15																	41859592		2203	4300	6503	39646884	SO:0001583	missense	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.818C>G	15.37:g.41859592C>G	ENSP00000263798:p.Ala273Gly		39646884	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230476	0.58777	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.57595	0.39	4.64	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42172	D	0.000741	T	0.44603	0.1301	L	0.33485	1.01	0.41357	D	0.987407	P	0.45428	0.858	B	0.42462	0.388	T	0.44559	-0.9320	10	0.41790	T	0.15	-10.0747	14.5246	0.67878	0.0:1.0:0.0:0.0	.	273	Q06418	TYRO3_HUMAN	G	205;273	ENSP00000263798:A273G	ENSP00000263798:A273G	A	+	2	0	TYRO3	39646884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.131000	0.57970	2.417000	0.82017	0.655000	0.94253	GCT		0.597	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			G	41859592	C	G	41859592	3	3	177	1	0	0	0	0	1	0	0	0	16814	797	28	3	844	3	TYRO3	15	41859592	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	1765981	41859592	60671800	54	10083											
EPB42	2038	broad.mit.edu	37	15	43498730	43498730	+	Silent	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr15:43498730G>C	ENST00000441366.2	-	10	1641	c.1416C>G	c.(1414-1416)gcC>gcG	p.A472A	EPB42_ENST00000300215.3_Silent_p.A502A|EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000540029.1_Silent_p.A394A	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	472					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.A502A(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACAGAGGACTGGCAGTCTCGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	15											176	166	169					15																	43498730		2203	4299	6502	41286022	SO:0001819	synonymous_variant	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1416C>G	15.37:g.43498730G>C			41286022	Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	CCDS45249.1																																																																																				0.542	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		C	43498730	G	C	43498730	2	2	177	1	0	0	0	0	0	0	0	1	5158	1335	47	3		3	EPB42	15	43498730	Silent	SNP	G	TCGA-23-1031-01A-01W-0486-08	1639138	43498730	59032662	55	10084											
SPG11	80208	broad.mit.edu	37	15	44952718	44952718	+	Silent	SNP	A	A	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr15:44952718A>G	ENST00000261866.7	-	2	370	c.354T>C	c.(352-354)ttT>ttC	p.F118F	SPG11_ENST00000559193.1_Silent_p.F118F|SPG11_ENST00000427534.2_Silent_p.F118F|SPG11_ENST00000535302.2_Silent_p.F118F|SPG11_ENST00000558319.1_Silent_p.F118F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	118					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.F118F(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTTTCAAATTAAATTCATAGA	0.388																																																1	Substitution - coding silent(1)	ovary(1)	15											148	142	144					15																	44952718		2198	4298	6496	42740010	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.354T>C	15.37:g.44952718A>G			42740010	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.388	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			G	44952718	A	G	44952718	2	3	177	1	0	0	0	0	0	0	0	1	15043	359	13	4		4	SPG11	15	44952718	Silent	SNP	A	TCGA-23-1031-01A-01W-0486-08	1453988	44952718	57578674	56	10085											
SLC28A2	9153	broad.mit.edu	37	15	45557851	45557851	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr15:45557851T>C	ENST00000347644.3	+	9	916	c.851T>C	c.(850-852)gTa>gCa	p.V284A	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	284					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.V284A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	GTGCAATGGGTAGTTCAGAAG	0.468																																					NSCLC(92;493 1501 26361 28917 47116)											1	Substitution - Missense(1)	ovary(1)	15											236	184	202					15																	45557851		2198	4298	6496	43345143	SO:0001583	missense	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.851T>C	15.37:g.45557851T>C	ENSP00000315006:p.Val284Ala		43345143	A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.109449	0.56398	.	.	ENSG00000137860	ENST00000347644	T	0.31769	1.48	5.41	4.29	0.51040	Nucleoside recognition (1);	0.530450	0.19665	N	0.108893	T	0.43897	0.1268	M	0.73372	2.23	0.29571	N	0.849921	P	0.46621	0.881	P	0.52481	0.7	T	0.44221	-0.9342	10	0.54805	T	0.06	-1.1696	9.3912	0.38374	0.0:0.0846:0.0:0.9154	.	284	O43868	S28A2_HUMAN	A	284	ENSP00000315006:V284A	ENSP00000315006:V284A	V	+	2	0	SLC28A2	43345143	0.931000	0.31567	0.110000	0.21437	0.640000	0.38277	5.610000	0.67668	0.909000	0.36697	-0.250000	0.11733	GTA		0.468	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		C	45557851	T	C	45557851	3	2	177	1	0	0	0	0	1	0	0	0	14535	1638	57	4	881	4	SLC28A2	15	45557851	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08	605133	45557851	56973541	57	10086											
AQP9	366	broad.mit.edu	37	15	58465355	58465355	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr15:58465355G>C	ENST00000219919.4	+	3	697	c.327G>C	c.(325-327)caG>caC	p.Q109H	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.Q109H|AQP9_ENST00000558772.1_Missense_Mutation_p.Q44H	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	109					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.Q109H(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGGGAGCCCAGTTCTTGGGAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	15											174	176	176					15																	58465355		2192	4292	6484	56252647	SO:0001583	missense	366			AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.327G>C	15.37:g.58465355G>C	ENSP00000219919:p.Gln109His		56252647	Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868783	0.72065	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.48522	0.81;0.81	5.33	5.33	0.75918	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	T	0.82107	0.4965	H	0.99689	4.705	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88639	0.3174	10	0.87932	D	0	-2.1556	12.9189	0.58220	0.0834:0.0:0.9166:0.0	.	109	O43315	AQP9_HUMAN	H	109	ENSP00000219919:Q109H;ENSP00000441390:Q109H	ENSP00000219919:Q109H	Q	+	3	2	AQP9	56252647	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.918000	0.48829	2.771000	0.95319	0.561000	0.74099	CAG		0.478	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		C	58465355	G	C	58465355	3	2	177	1	0	0	0	0	1	0	0	0	833	1020	36	3	337	3	AQP9	15	58465355	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	12907504	58465355	44066037	58	10087											
ADCY9	115	broad.mit.edu	37	16	4016249	4016249	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr16:4016249T>C	ENST00000294016.3	-	11	4127	c.3589A>G	c.(3589-3591)Atg>Gtg	p.M1197V		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1197	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.M1197V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGGTGTCCATCCTGCTGGCG	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											124	109	114					16																	4016249		2197	4300	6497	3956250	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3589A>G	16.37:g.4016249T>C	ENSP00000294016:p.Met1197Val		3956250	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118524	0.77323	.	.	ENSG00000162104	ENST00000294016	T	0.34472	1.36	5.67	5.67	0.87782	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	M	0.94142	3.5	0.58432	D	0.999991	D	0.71674	0.998	D	0.80764	0.994	T	0.80221	-0.1472	10	0.87932	D	0	.	16.2014	0.82084	0.0:0.0:0.0:1.0	.	1197	O60503	ADCY9_HUMAN	V	1197	ENSP00000294016:M1197V	ENSP00000294016:M1197V	M	-	1	0	ADCY9	3956250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	ATG		0.622	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			C	4016249	T	C	4016249	3	2	177	1	0	0	0	0	1	0	0	0	301	1435	50	4	476	4	ADCY9	16	4016249	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08		4016249	86338504	59	10088											
ZC3H7A	29066	broad.mit.edu	37	16	11861400	11861400	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr16:11861400G>C	ENST00000396516.2	-	12	1592	c.1395C>G	c.(1393-1395)aaC>aaG	p.N465K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.N465K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	465						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N465K(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TATGATCTATGTTAGCATGGT	0.289																																																1	Substitution - Missense(1)	ovary(1)	16											111	109	110					16																	11861400		2196	4299	6495	11768901	SO:0001583	missense	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1395C>G	16.37:g.11861400G>C	ENSP00000379773:p.Asn465Lys		11768901	D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435223	0.25813	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09817	2.94;2.94	5.77	4.68	0.58851	Zinc finger, C2H2-like (1);	0.309628	0.40640	N	0.001056	T	0.09512	0.0234	L	0.44542	1.39	0.80722	D	1	B;B	0.18166	0.026;0.002	B;B	0.19391	0.025;0.002	T	0.14144	-1.0483	10	0.13470	T	0.59	.	9.9899	0.41865	0.8582:0.0:0.1418:0.0	.	186;465	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	K	465	ENSP00000347999:N465K;ENSP00000379773:N465K	ENSP00000347999:N465K	N	-	3	2	ZC3H7A	11768901	0.981000	0.34729	0.936000	0.37596	0.797000	0.45037	1.753000	0.38359	1.002000	0.39104	-0.600000	0.04104	AAC		0.289	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		C	11861400	G	C	11861400	3	2	177	1	0	0	0	0	1	0	0	0	17572	1368	48	3	1564	3	ZC3H7A	16	11861400	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	7845151	11861400	78493353	60	10089											
GDE1	51573	broad.mit.edu	37	16	19528413	19528413	+	Silent	SNP	A	A	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr16:19528413A>T	ENST00000353258.3	-	2	540	c.360T>A	c.(358-360)acT>acA	p.T120T		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	120	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)	p.T120T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						CAGTCCCATCAGTCGTCCTAT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	16											188	158	168					16																	19528413		2197	4300	6497	19435914	SO:0001819	synonymous_variant	51573				CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"membrane interacting protein of RGS16"	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.360T>A	16.37:g.19528413A>T			19435914	O43334|Q6PKF7|Q7KYR4	Silent	SNP	ENST00000353258.3	37	CCDS10578.1																																																																																				0.438	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		T	19528413	A	T	19528413	2	4	177	1	0	0	0	0	0	0	0	1	6310	175	7	5		5	GDE1	16	19528413	Silent	SNP	A	TCGA-23-1031-01A-01W-0486-08	7667013	19528413	70826340	61	10090											
DNAH3	55567	broad.mit.edu	37	16	21031085	21031085	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr16:21031085C>G	ENST00000261383.3	-	41	5882	c.5883G>C	c.(5881-5883)tgG>tgC	p.W1961C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1961					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.W1961C(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGCCACGGTCCACACCAAGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	16											118	106	110					16																	21031085		2201	4300	6501	20938586	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5883G>C	16.37:g.21031085C>G	ENSP00000261383:p.Trp1961Cys		20938586	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516689	0.85495	.	.	ENSG00000158486	ENST00000261383	T	0.26518	1.73	5.58	5.58	0.84498	.	0.209750	0.44097	D	0.000493	T	0.71913	0.3396	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84701	0.0728	10	0.87932	D	0	.	19.6338	0.95721	0.0:1.0:0.0:0.0	.	1961	Q8TD57	DYH3_HUMAN	C	1961	ENSP00000261383:W1961C	ENSP00000261383:W1961C	W	-	3	0	DNAH3	20938586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.558000	0.82253	2.648000	0.89879	0.558000	0.71614	TGG		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		G	21031085	C	G	21031085	3	3	177	1	0	0	0	0	1	0	0	0	4603	856	30	3	6554	3	DNAH3	16	21031085	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	1502672	21031085	69323668	62	10091											
CNOT1	23019	broad.mit.edu	37	16	58579273	58579273	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr16:58579273T>G	ENST00000317147.5	-	30	4461	c.4129A>C	c.(4129-4131)Aat>Cat	p.N1377H	CNOT1_ENST00000441024.2_Missense_Mutation_p.N1377H|CNOT1_ENST00000245138.4_Missense_Mutation_p.N228H|CNOT1_ENST00000569240.1_Missense_Mutation_p.N1372H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1377	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.N1377H(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACTGTTGGATTCAGAGTAATG	0.473																																																1	Substitution - Missense(1)	ovary(1)	16											246	201	216					16																	58579273		2198	4300	6498	57136774	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4129A>C	16.37:g.58579273T>G	ENSP00000320949:p.Asn1377His		57136774	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501374	0.64298	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.52754	0.68;0.65	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	L	0.55743	1.74	0.80722	D	1	B;D;P;P	0.71674	0.157;0.998;0.559;0.506	B;D;B;B	0.68039	0.086;0.955;0.22;0.234	T	0.55360	-0.8153	10	0.15952	T	0.53	.	15.5087	0.75764	0.0:0.0:0.0:1.0	.	228;1377;1377;1372	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	H	1377;228;1372;1377	ENSP00000320949:N1377H;ENSP00000413113:N1377H	ENSP00000245138:N228H	N	-	1	0	CNOT1	57136774	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.437000	0.80417	2.057000	0.61298	0.533000	0.62120	AAT		0.473	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		G	58579273	T	G	58579273	3	3	177	1	0	0	0	0	1	0	0	0	3617	1783	62	5	3303	5	CNOT1	16	58579273	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08	37548188	58579273	31775480	63	10092											
TP53	7157	broad.mit.edu	37	17	7577514	7577522	+	In_Frame_Del	DEL	GTGATGATG	GTGATGATG	-	rs587781433		TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	GTGATGATG	GTGATGATG	-	-	GTGATGATG	GTGATGATG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr17:7577514_7577522delGTGATGATG	ENST00000269305.4	-	7	948_956	c.759_767delCATCATCAC	c.(757-768)accatcatcaca>aca	p.253_256TIIT>T	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_In_Frame_Del_p.253_256TIIT>T|TP53_ENST00000413465.2_In_Frame_Del_p.253_256TIIT>T|TP53_ENST00000455263.2_In_Frame_Del_p.253_256TIIT>T|TP53_ENST00000445888.2_In_Frame_Del_p.253_256TIIT>T|TP53_ENST00000420246.2_In_Frame_Del_p.253_256TIIT>T	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	253	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255F(20)|p.I255S(10)|p.0?(8)|p.I254V(7)|p.I254F(7)|p.I255del(7)|p.I255T(7)|p.I255N(7)|p.I254S(6)|p.I254fs*10(5)|p.L252_I254delLTI(4)|p.I255fs*90(4)|p.T256fs*89(4)|p.I251_T253delILT(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T256A(3)|p.I255fs*9(3)|p.I255V(3)|p.T256fs*8(2)|p.T253_I255del(2)|p.T253T(2)|p.T253fs*91(2)|p.I254del(2)|p.T256I(2)|p.T256K(2)|p.I255I(2)|p.T256S(2)|p.L252_T253delLT(1)|p.T256fs*90(1)|p.P250_T253delPILT(1)|p.T256del(1)|p.I254I(1)|p.?(1)|p.I254fs*7(1)|p.T253del(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I255fs*8(1)|p.I254fs*91(1)|p.I255M(1)|p.T256P(1)|p.T256fs*17(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)	GTCTTCCAGTGTGATGATGGTGAGGATGG	0.584		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"	152	Substitution - Missense(87)|Deletion - In frame(25)|Deletion - Frameshift(14)|Insertion - Frameshift(12)|Whole gene deletion(8)|Substitution - coding silent(5)|Unknown(1)	haematopoietic_and_lymphoid_tissue(21)|breast(20)|large_intestine(19)|oesophagus(14)|lung(14)|upper_aerodigestive_tract(11)|ovary(10)|central_nervous_system(8)|pancreas(7)|liver(6)|bone(5)|stomach(4)|urinary_tract(3)|endometrium(2)|skin(2)|prostate(2)|thyroid(1)|soft_tissue(1)|peritoneum(1)|kidney(1)	17	GRCh37	CM951232	TP53	M																																				7518247	SO:0001651	inframe_deletion	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.759_767delCATCATCAC	17.37:g.7577514_7577522delGTGATGATG	ENSP00000269305:p.Thr253_Ile255del		7518239	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	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.584	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577522	GTGATGATG	-	7577514	7	5	177	1	0	1	0	1	0	0	0	0	16381	1377	48	0	523	0	TP53	17	7577514	In_Frame_Del	DEL	GTGATGATG	TCGA-23-1031-01A-01W-0486-08		7577514	73617696	64	10093											
TEKT3	64518	broad.mit.edu	37	17	15234415	15234415	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr17:15234415T>A	ENST00000395930.1	-	3	674	c.488A>T	c.(487-489)gAg>gTg	p.E163V	TEKT3_ENST00000338696.2_Missense_Mutation_p.E163V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	163					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E163V(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTCATCCAACTCATGAATGAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	17											171	156	161					17																	15234415		2203	4300	6503	15175140	SO:0001583	missense	64518			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.488A>T	17.37:g.15234415T>A	ENSP00000379263:p.Glu163Val		15175140	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672804	0.88445	.	.	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.02944	4.1;4.1	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05533	-1.0879	10	0.87932	D	0	-4.9219	16.1054	0.81216	0.0:0.0:0.0:1.0	.	163	Q9BXF9	TEKT3_HUMAN	V	163	ENSP00000379263:E163V;ENSP00000343995:E163V	ENSP00000343995:E163V	E	-	2	0	TEKT3	15175140	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.655000	0.83696	2.266000	0.75297	0.533000	0.62120	GAG		0.418	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		A	15234415	T	A	15234415	3	1	177	1	0	0	0	0	1	0	0	0	15754	1551	54	5	1012	5	TEKT3	17	15234415	Missense_Mutation	SNP	T	TCGA-23-1031-01A-01W-0486-08	7656901	15234415	65960795	65	10094											
RHOT1	55288	broad.mit.edu	37	17	30529839	30529839	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr17:30529839G>C	ENST00000333942.6	+	15	1491	c.1252G>C	c.(1252-1254)Gtg>Ctg	p.V418L	RHOT1_ENST00000358365.3_Missense_Mutation_p.V418L|RHOT1_ENST00000583994.1_Missense_Mutation_p.V291L|RHOT1_ENST00000354266.3_Missense_Mutation_p.V397L|RHOT1_ENST00000545287.2_Missense_Mutation_p.V418L|RHOT1_ENST00000394692.2_Missense_Mutation_p.V418L|RHOT1_ENST00000581094.1_Missense_Mutation_p.V418L	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	418	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V418L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TCAAAGAAATGTGTTCAGATG	0.318																																																1	Substitution - Missense(1)	ovary(1)	17											98	106	103					17																	30529839		2203	4299	6502	27553952	SO:0001583	missense	55288			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1252G>C	17.37:g.30529839G>C	ENSP00000334724:p.Val418Leu		27553952	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118385	0.56505	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.21543	2.0;2.0;2.0	5.47	5.47	0.80525	MIRO (1);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.89968	3.075	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.999;0.997	D;P;D;D	0.91635	0.999;0.831;0.967;0.919	T	0.66160	-0.5993	10	0.87932	D	0	-8.0249	19.3261	0.94262	0.0:0.0:1.0:0.0	.	418;418;418;418	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	L	418	ENSP00000351132:V418L;ENSP00000378184:V418L;ENSP00000334724:V418L	ENSP00000334724:V418L	V	+	1	0	RHOT1	27553952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.728000	0.98792	2.569000	0.86673	0.585000	0.79938	GTG		0.318	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		C	30529839	G	C	30529839	3	2	177	1	0	0	0	0	1	0	0	0	13346	1377	48	3	1310	3	RHOT1	17	30529839	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	15295424	30529839	50665371	66	10095											
GGNBP2	79893	broad.mit.edu	37	17	34943520	34943520	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr17:34943520G>C	ENST00000304718.4	+	13	2051	c.1735G>C	c.(1735-1737)Gat>Cat	p.D579H		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	579					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.D579H(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAAGACCAAAGATACACATCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	17											150	142	145					17																	34943520		2203	4300	6503	32017633	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1735G>C	17.37:g.34943520G>C	ENSP00000307617:p.Asp579His		32017633	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059505	0.76074	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.93	5.93	0.95920	.	0.209202	0.49305	D	0.000156	T	0.59101	0.2169	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60414	-0.7268	9	0.26408	T	0.33	-20.9135	18.5243	0.90965	0.0:0.0:1.0:0.0	.	579	Q9H3C7	GGNB2_HUMAN	H	579	.	ENSP00000307617:D579H	D	+	1	0	GGNBP2	32017633	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.763000	0.74955	2.815000	0.96918	0.561000	0.74099	GAT		0.458	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		C	34943520	G	C	34943520	3	2	177	1	0	0	0	0	1	0	0	0	6359	942	33	3	1781	3	GGNBP2	17	34943520	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	4413681	34943520	46251690	67	10096											
KIF2B	84643	broad.mit.edu	37	17	51901684	51901684	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr17:51901684G>C	ENST00000268919.4	+	1	1446	c.1290G>C	c.(1288-1290)caG>caC	p.Q430H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	430	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q430H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGTGTTCCAGATCATCCTGA	0.502																																																1	Substitution - Missense(1)	ovary(1)	17											80	64	69					17																	51901684		2203	4300	6503	49256683	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1290G>C	17.37:g.51901684G>C	ENSP00000268919:p.Gln430His		49256683	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817943	0.32145	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.18502	2.21	5.73	3.75	0.43078	Kinesin, motor domain (5);	0.000000	0.42682	D	0.000678	T	0.46132	0.1377	M	0.88512	2.96	0.43930	D	0.996583	D	0.89917	1.0	D	0.77004	0.989	T	0.53078	-0.8489	10	0.66056	D	0.02	.	12.1358	0.53970	0.1393:0.0:0.8607:0.0	.	430	Q8N4N8	KIF2B_HUMAN	H	430;318	ENSP00000268919:Q430H	ENSP00000268919:Q430H	Q	+	3	2	KIF2B	49256683	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	2.822000	0.48073	0.885000	0.36088	-0.140000	0.14226	CAG		0.502	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		C	51901684	G	C	51901684	3	2	177	1	0	0	0	0	1	0	0	0	8298	933	33	3	1292	3	KIF2B	17	51901684	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	16958164	51901684	29293526	68	10097											
RNF213	57674	broad.mit.edu	37	17	78319618	78319618	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr17:78319618A>C	ENST00000582970.1	+	29	7626	c.7483A>C	c.(7483-7485)Ata>Cta	p.I2495L	RNF213_ENST00000336301.6_Missense_Mutation_p.I568L|RNF213_ENST00000508628.2_Missense_Mutation_p.I2544L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2495					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I568L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AACGGAAGCTATAAGCTGTAT	0.488																																																1	Substitution - Missense(1)	ovary(1)	17											118	105	109					17																	78319618		2203	4300	6503	75934213	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7483A>C	17.37:g.78319618A>C	ENSP00000464087:p.Ile2495Leu		75934213	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	3.715	-0.058742	0.07317	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.43294	0.95;1.13	5.42	-3.78	0.04333	ATPase, AAA+ type, core (1);	0.754197	0.12618	N	0.453260	T	0.33000	0.0848	L	0.40543	1.245	0.09310	N	0.999994	B	0.15141	0.012	B	0.18263	0.021	T	0.13656	-1.0501	10	0.30854	T	0.27	.	16.4445	0.83913	0.479:0.0:0.521:0.0	.	568	Q63HN8	RN213_HUMAN	L	2495;2544;568	ENSP00000425956:I2495L;ENSP00000338218:I568L	ENSP00000338218:I568L	I	+	1	0	RNF213	75934213	0.013000	0.17824	0.000000	0.03702	0.009000	0.06853	0.254000	0.18314	-1.027000	0.03325	-2.200000	0.00306	ATA		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		C	78319618	A	C	78319618	3	2	177	1	0	0	0	0	1	0	0	0	13480	449	16	5	7912	5	RNF213	17	78319618	Missense_Mutation	SNP	A	TCGA-23-1031-01A-01W-0486-08	26417934	78319618	2875592	69	10098											
CEP192	55125	broad.mit.edu	37	18	13114130	13114130	+	Splice_Site	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr18:13114130G>C	ENST00000325971.8	+	40	6974	c.5381G>C	c.(5380-5382)aGc>aCc	p.S1794T	CEP192_ENST00000506447.1_Splice_Site_p.S2390T|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Splice_Site_p.S1915T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1794					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.S1794T(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTGTATAGAGCATCGAAGCA	0.343																																																1	Substitution - Missense(1)	ovary(1)	18											104	105	104					18																	13114130		2203	4300	6503	13104130	SO:0001630	splice_region_variant	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5380-1G>C	18.37:g.13114130G>C			13104130	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	G	13.37	2.217351	0.39201	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06933	3.24;3.24;3.25	5.19	4.31	0.51392	.	0.183652	0.48286	D	0.000183	T	0.09379	0.0231	M	0.64997	1.995	0.29641	N	0.844723	B;B;B;P	0.40476	0.091;0.01;0.041;0.718	B;B;B;B	0.32762	0.037;0.01;0.011;0.152	T	0.09335	-1.0679	10	0.41790	T	0.15	-1.2489	12.7765	0.57451	0.0819:0.0:0.9181:0.0	.	1915;2390;394;992	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	T	2390;1794;1794;1915;394	ENSP00000427550:S2390T;ENSP00000317156:S1794T;ENSP00000389190:S1915T	ENSP00000317156:S1794T	S	+	2	0	CEP192	13104130	1.000000	0.71417	0.659000	0.29680	0.017000	0.09413	5.524000	0.67105	2.433000	0.82419	0.455000	0.32223	AGC		0.343	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	Missense_Mutation	C	13114130	G	C	13114130	5	2	177	1	0	0	0	0	0	0	1	0	3251	985	34	3	7331	3	CEP192	18	13114130	Splice_Site	SNP	G	TCGA-23-1031-01A-01W-0486-08		13114130	64963118	70	10099											
DSG3	1830	broad.mit.edu	37	18	29046617	29046617	+	Silent	SNP	C	C	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr18:29046617C>T	ENST00000257189.4	+	11	1619	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	512					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S512S(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGTTGTCTCCGCTAGAACAC	0.448																																																1	Substitution - coding silent(1)	ovary(1)	18											141	126	131					18																	29046617		2203	4300	6503	27300615	SO:0001819	synonymous_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1536C>T	18.37:g.29046617C>T			27300615	A8K2V2	Silent	SNP	ENST00000257189.4	37	CCDS11898.1																																																																																				0.448	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29046617	C	T	29046617	2	4	177	1	0	0	0	0	0	0	0	1	4778	639	23	1		1	DSG3	18	29046617	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	15932487	29046617	49030631	71	10100											
RFX2	5990	broad.mit.edu	37	19	6002737	6002737	+	Missense_Mutation	SNP	C	C	G	rs140937075		TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr19:6002737C>G	ENST00000303657.5	-	14	1794	c.1645G>C	c.(1645-1647)Gtg>Ctg	p.V549L	RFX2_ENST00000592546.1_Missense_Mutation_p.V524L|RFX2_ENST00000359161.3_Missense_Mutation_p.V549L|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V549L(1)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTCACCTGCACGTTGGCAAAG	0.662																																					Colon(38;171 817 19800 47433 48051)											1	Substitution - Missense(1)	ovary(1)	19											101	73	82					19																	6002737		2203	4300	6503	5953737	SO:0001583	missense	5990				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1645G>C	19.37:g.6002737C>G	ENSP00000306335:p.Val549Leu		5953737	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279661	0.95489	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.46819	0.86	4.74	4.74	0.60224	.	0.126937	0.52532	N	0.000065	T	0.64011	0.2560	M	0.75777	2.31	0.80722	D	1	D;P	0.55605	0.972;0.952	P;P	0.55871	0.786;0.687	T	0.70260	-0.4921	10	0.87932	D	0	-39.3134	16.6557	0.85227	0.0:1.0:0.0:0.0	.	524;549	P48378-2;P48378	.;RFX2_HUMAN	L	549;524;336	ENSP00000306335:V549L	ENSP00000306335:V549L	V	-	1	0	RFX2	5953737	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.552000	0.82192	2.323000	0.78572	0.655000	0.94253	GTG		0.662	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		G	6002737	C	G	6002737	3	3	177	1	0	0	0	0	1	0	0	0	13266	536	19	3	546	3	RFX2	19	6002737	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08		6002737	53126246	72	10101											
CTXN1	404217	broad.mit.edu	37	19	7990283	7990283	+	Silent	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr19:7990283C>G	ENST00000318978.4	-	2	360	c.141G>C	c.(139-141)gtG>gtC	p.V47V	CTD-3193O13.8_ENST00000594308.1_RNA|TIMM44_ENST00000598968.1_5'Flank	NM_206833.3	NP_996664.1	P60606	CTXN1_HUMAN	cortexin 1	47						integral component of membrane (GO:0016021)		p.V47V(1)		ovary(1)	1						GCACGCAGCGCACCATCAACA	0.711																																																1	Substitution - coding silent(1)	ovary(1)	19											23	24	24					19																	7990283		2184	4292	6476	7896283	SO:0001819	synonymous_variant	404217			AK098834	CCDS12191.1	19p13.2	2012-10-02			ENSG00000178531	ENSG00000178531			31108	protein-coding gene	gene with protein product		600135					Standard	NM_206833		Approved	FLJ25968	uc002miy.4	P60606		ENST00000318978.4:c.141G>C	19.37:g.7990283C>G			7896283		Silent	SNP	ENST00000318978.4	37	CCDS12191.1																																																																																				0.711	CTXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461614.1			G	7990283	C	G	7990283	2	3	177	1	0	0	0	0	0	0	0	1	4049	697	25	3		3	CTXN1	19	7990283	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	1987546	7990283	51138700	73	10102											
MUC16	94025	broad.mit.edu	37	19	9074946	9074946	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr19:9074946G>C	ENST00000397910.4	-	3	12703	c.12500C>G	c.(12499-12501)gCt>gGt	p.A4167G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4169	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A4167G(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGAGGTTGTAGCATGGATAGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											157	146	149					19																	9074946		1977	4165	6142	8935946	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12500C>G	19.37:g.9074946G>C	ENSP00000381008:p.Ala4167Gly		8935946	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.470	0.454876	0.12283	.	.	ENSG00000181143	ENST00000397910	T	0.26660	1.72	1.49	-1.17	0.09648	.	.	.	.	.	T	0.12944	0.0314	L	0.29908	0.895	.	.	.	P	0.52061	0.95	B	0.36766	0.232	T	0.20107	-1.0285	8	0.87932	D	0	.	3.5646	0.07895	0.0:0.2806:0.4345:0.2849	.	4167	B5ME49	.	G	4167	ENSP00000381008:A4167G	ENSP00000381008:A4167G	A	-	2	0	MUC16	8935946	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-3.077000	0.00615	-0.215000	0.10063	0.313000	0.20887	GCT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9074946	G	C	9074946	3	2	177	1	0	0	0	0	1	0	0	0	9973	971	34	3	31351	3	MUC16	19	9074946	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	1084663	9074946	50054037	74	10103											
PGLYRP2	114770	broad.mit.edu	37	19	15579505	15579505	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr19:15579505G>T	ENST00000340880.4	-	5	2180	c.1700C>A	c.(1699-1701)cCa>cAa	p.P567Q	PGLYRP2_ENST00000292609.4_3'UTR	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	567					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.P567Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGGGTCCTTGGGGGTGGCTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											111	117	115					19																	15579505		1939	4136	6075	15440505	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1700C>A	19.37:g.15579505G>T	ENSP00000345968:p.Pro567Gln		15440505	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	9.393	1.076087	0.20227	.	.	ENSG00000161031	ENST00000340880	T	0.04194	3.68	3.26	-3.16	0.05217	.	.	.	.	.	T	0.02727	0.0082	L	0.40543	1.245	0.09310	N	1	P	0.39964	0.697	B	0.32289	0.143	T	0.44620	-0.9316	9	0.12430	T	0.62	.	4.3242	0.11032	0.4268:0.1696:0.4036:0.0	.	567	Q96PD5	PGRP2_HUMAN	Q	567	ENSP00000345968:P567Q	ENSP00000345968:P567Q	P	-	2	0	PGLYRP2	15440505	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.878000	0.04192	-0.511000	0.06514	-0.133000	0.14855	CCA		0.507	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		T	15579505	G	T	15579505	3	4	177	1	0	0	0	0	1	0	0	0	11794	1348	47	3	34	3	PGLYRP2	19	15579505	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	6504559	15579505	43549478	75	10104											
C19orf55	148137	broad.mit.edu	37	19	36255763	36255763	+	Silent	SNP	C	C	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr19:36255763C>T	ENST00000544099.1	+	6	615	c.552C>T	c.(550-552)caC>caT	p.H184H	C19orf55_ENST00000396908.4_Silent_p.H184H			Q2NL68	PRSR3_HUMAN		184								p.H184H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAACCTCCACACATGGAACT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	19											34	41	39					19																	36255763		2098	4225	6323	40947603	SO:0001819	synonymous_variant	148137																														ENST00000544099.1:c.552C>T	19.37:g.36255763C>T			40947603	Q8NDI3|Q8WWC8|Q96NL4	Silent	SNP	ENST00000544099.1	37																																																																																					0.622	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			T	36255763	C	T	36255763	2	4	177	1	0	0	0	0	0	0	0	1	1937	477	17	2		2	C19orf55	19	36255763	Silent	SNP	C	TCGA-23-1031-01A-01W-0486-08	20676258	36255763	22873220	76	10105											
HKR1	284459	broad.mit.edu	37	19	37853136	37853136	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr19:37853136C>T	ENST00000324411.4	+	6	708	c.439C>T	c.(439-441)Cct>Tct	p.P147S	HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000541583.2_Missense_Mutation_p.P86S|HKR1_ENST00000589392.1_Missense_Mutation_p.P129S|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.P128S|HKR1_ENST00000586897.1_3'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	147					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P147S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCAGGAAATCCTCTCCACCT	0.478																																																1	Substitution - Missense(1)	ovary(1)	19											82	82	82					19																	37853136		2203	4300	6503	42544976	SO:0001583	missense	284459			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.439C>T	19.37:g.37853136C>T	ENSP00000315505:p.Pro147Ser		42544976	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	C	2.100	-0.406185	0.04832	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.05649	3.57;3.52;3.41	2.71	2.71	0.32032	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.80722	D	1	B;B;B;B	0.30482	0.18;0.228;0.281;0.18	B;B;B;B	0.29862	0.025;0.108;0.025;0.025	T	0.47898	-0.9081	9	0.09338	T	0.73	0.8199	11.6642	0.51364	0.0:1.0:0.0:0.0	.	86;128;147;129	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	S	86;128;183;147;86	ENSP00000375994:P128S;ENSP00000315505:P147S;ENSP00000438261:P86S	ENSP00000315505:P147S	P	+	1	0	HKR1	42544976	0.000000	0.05858	0.551000	0.28230	0.666000	0.39218	0.505000	0.22642	1.821000	0.53095	0.650000	0.86243	CCT		0.478	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		T	37853136	C	T	37853136	3	4	177	1	0	0	0	0	1	0	0	0	7194	855	30	2	453	2	HKR1	19	37853136	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	1597373	37853136	21275847	77	10106											
CATSPERG	57828	broad.mit.edu	37	19	38861335	38861335	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr19:38861335C>T	ENST00000409235.3	+	29	3498	c.3383C>T	c.(3382-3384)tCt>tTt	p.S1128F	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S1088F	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1128					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.S768F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGCATGCCGTCTCTGAGACAT	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											152	137	142					19																	38861335		2203	4300	6503	43553175	SO:0001583	missense	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3383C>T	19.37:g.38861335C>T	ENSP00000386962:p.Ser1128Phe		43553175	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712933	0.48517	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.28895	1.6;1.59	3.25	3.25	0.37280	.	2.847580	0.01174	N	0.006938	T	0.45657	0.1353	N	0.24115	0.695	0.39799	D	0.97254	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.44937	-0.9295	10	0.87932	D	0	-0.7155	10.2829	0.43550	0.0:1.0:0.0:0.0	.	1128;1088	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	F	1088;1128;1128	ENSP00000387057:S1088F;ENSP00000386962:S1128F	ENSP00000386962:S1128F	S	+	2	0	CATSPERG	43553175	0.002000	0.14202	0.024000	0.17045	0.021000	0.10359	1.010000	0.29898	2.136000	0.66102	0.484000	0.47621	TCT		0.537	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		T	38861335	C	T	38861335	3	4	177	1	0	0	0	0	1	0	0	0	2692	913	32	2	3493	2	CATSPERG	19	38861335	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08	1008199	38861335	20267648	78	10107											
CALM3	808	broad.mit.edu	37	19	47112395	47112395	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr19:47112395G>C	ENST00000291295.9	+	6	634	c.435G>C	c.(433-435)atG>atC	p.M145I	CALM3_ENST00000594523.1_Missense_Mutation_p.M109I|CALM3_ENST00000597743.1_Missense_Mutation_p.M79I|CALM3_ENST00000391918.2_Missense_Mutation_p.M109I|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000596362.1_Missense_Mutation_p.M145I|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000599839.1_Missense_Mutation_p.M109I|CALM3_ENST00000598871.1_Missense_Mutation_p.M109I	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	145	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.M145I(1)		breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TTGTACAGATGATGACTGCAA	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											53	47	49					19																	47112395		2203	4300	6503	51804235	SO:0001583	missense	808				CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"EF-hand domain containing", "Endogenous ligands"	1449	protein-coding gene	gene with protein product	"prepro-calmodulin 3"	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.435G>C	19.37:g.47112395G>C	ENSP00000291295:p.Met145Ile		51804235	P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000291295.9	37	CCDS33061.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771055	0.49680	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	T	0.57107	0.42	4.86	4.86	0.63082	.	0.094831	0.46758	N	0.000269	T	0.38746	0.1052	N	0.03071	-0.42	0.80722	D	1	.	.	.	.	.	.	T	0.54357	-0.8306	8	0.87932	D	0	-20.9666	15.5217	0.75871	0.0:0.0:1.0:0.0	.	.	.	.	I	145	ENSP00000291295:M145I	ENSP00000291295:M145I	M	+	3	0	CALM3	51804235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.507000	0.84556	0.655000	0.94253	ATG		0.602	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257483.2			C	47112395	G	C	47112395	3	2	177	1	0	0	0	0	1	0	0	0	2586	1290	45	3	457	3	CALM3	19	47112395	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08	8251060	47112395	12016588	79	10108											
DPM1	8813	broad.mit.edu	37	20	49575039	49575039	+	Missense_Mutation	SNP	G	G	T	rs201392536	byFrequency	TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr20:49575039G>T	ENST00000371588.5	-	1	48	c.22C>A	c.(22-24)Cgt>Agt	p.R8S	DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371582.4_Missense_Mutation_p.R8S|DPM1_ENST00000371583.5_Missense_Mutation_p.R8S|MOCS3_ENST00000244051.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	8					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.R8S(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CGAGGACTACGACTGACTTCC	0.572																																																1	Substitution - Missense(1)	ovary(1)	20											60	57	58					20																	49575039		2203	4300	6503	49008446	SO:0001583	missense	8813			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.22C>A	20.37:g.49575039G>T	ENSP00000360644:p.Arg8Ser		49008446	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.140017|2.140017	0.37728|0.37728	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	D;D;D;D|.	0.86366|.	-2.11;-2.11;-2.1;-1.67|.	5.48|5.48	-0.0705|-0.0705	0.13747|0.13747	.|.	0.655088|.	0.13930|.	N|.	0.352988|.	T|.	0.19604|.	0.0471|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.26883|.	-1.0090|.	9|.	.|.	.|.	.|.	0.2886|0.2886	12.4827|12.4827	0.55854|0.55854	0.0:0.5174:0.3582:0.1244|0.0:0.5174:0.3582:0.1244	.|.	8|.	O60762|.	DPM1_HUMAN|.	S|X	8|7	ENSP00000360644:R8S;ENSP00000360638:R8S;ENSP00000360639:R8S;ENSP00000394921:R8S|.	.|.	R|S	-|-	1|2	0|0	DPM1|DPM1	49008446|49008446	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.222000|-0.222000	0.09190|0.09190	-0.224000|-0.224000	0.09928|0.09928	-0.156000|-0.156000	0.13503|0.13503	CGT|TCG		0.572	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		T	49575039	G	T	49575039	3	4	177	1	0	0	0	0	1	0	0	0	4724	1058	37	3	796	3	DPM1	20	49575039	Missense_Mutation	SNP	G	TCGA-23-1031-01A-01W-0486-08		49575039	13450481	80	10109											
CTCFL	140690	broad.mit.edu	37	20	56078560	56078560	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chr20:56078560A>G	ENST00000608263.1	-	9	2433	c.1772T>C	c.(1771-1773)aTc>aCc	p.I591T	CTCFL_ENST00000608440.1_Missense_Mutation_p.I591T|CTCFL_ENST00000429804.3_Missense_Mutation_p.I541T|CTCFL_ENST00000371196.2_Missense_Mutation_p.I591T|CTCFL_ENST00000243914.3_Missense_Mutation_p.I591T|CTCFL_ENST00000502686.2_Missense_Mutation_p.I329T|CTCFL_ENST00000433949.3_Missense_Mutation_p.I386T|CTCFL_ENST00000609232.1_Missense_Mutation_p.I591T|CTCFL_ENST00000423479.3_Missense_Mutation_p.I591T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	591					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.I591T(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTCCTTCAGGATGGTCTGCTT	0.502																																																1	Substitution - Missense(1)	ovary(1)	20											207	177	187					20																	56078560		2203	4300	6503	55511966	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1772T>C	20.37:g.56078560A>G	ENSP00000476783:p.Ile591Thr		55511966	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	A	1.714	-0.498316	0.04291	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686	T;T;T;T;T;T	0.09817	2.94;2.98;2.98;3.15;3.01;3.04	2.65	-5.29	0.02747	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	0.999998	B;B;B;B;B	0.12630	0.0;0.0;0.003;0.006;0.006	B;B;B;B;B	0.12156	0.0;0.0;0.007;0.007;0.005	T	0.42085	-0.9472	9	0.10111	T	0.7	2.7444	4.1714	0.10331	0.1734:0.5643:0.1194:0.1429	.	591;541;591;591;591	A6XGM2;E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	T	591;591;591;541;591;329	ENSP00000415579:I591T;ENSP00000243914:I591T;ENSP00000360239:I591T;ENSP00000415329:I541T;ENSP00000392034:I591T;ENSP00000437999:I329T	ENSP00000243914:I591T	I	-	2	0	CTCFL	55511966	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.067000	0.03451	-2.017000	0.00944	0.402000	0.26972	ATC		0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		G	56078560	A	G	56078560	3	3	177	1	0	0	0	0	1	0	0	0	4001	333	12	4	227	4	CTCFL	20	56078560	Missense_Mutation	SNP	A	TCGA-23-1031-01A-01W-0486-08	6503521	56078560	6946960	81	10110											
ZCCHC5	203430	broad.mit.edu	37	X	77913139	77913139	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1031-01A-01W-0486-08	TCGA-23-1031-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6a074fd8-3424-4909-bd45-2ecf48301240	50ae5b6d-16f7-459e-890c-a4ea42c8c454	g.chrX:77913139C>G	ENST00000321110.1	-	2	1074	c.779G>C	c.(778-780)aGt>aCt	p.S260T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	260							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S260T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTCATGTAACTATACAGCTG	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											31	28	29					X																	77913139		2203	4300	6503	77799795	SO:0001583	missense	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.779G>C	X.37:g.77913139C>G	ENSP00000316794:p.Ser260Thr		77799795	B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.753266	0.00663	.	.	ENSG00000179300	ENST00000321110	T	0.17054	2.3	3.29	1.36	0.22044	.	0.506319	0.15351	U	0.266951	T	0.09113	0.0225	L	0.31752	0.955	0.18873	N	0.999984	P	0.52842	0.956	B	0.41374	0.355	T	0.19745	-1.0296	10	0.16896	T	0.51	.	3.4394	0.07458	0.0:0.5691:0.264:0.1669	.	260	Q8N8U3	ZCHC5_HUMAN	T	260	ENSP00000316794:S260T	ENSP00000316794:S260T	S	-	2	0	ZCCHC5	77799795	0.001000	0.12720	0.396000	0.26296	0.071000	0.16799	0.227000	0.17795	0.213000	0.20722	0.513000	0.50165	AGT		0.512	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		G	77913139	C	G	77913139	3	3	177	1	0	0	0	0	1	0	0	0	17591	565	20	3	652	3	ZCCHC5	23	77913139	Missense_Mutation	SNP	C	TCGA-23-1031-01A-01W-0486-08		77913139	77357421	82	10111											
PRAMEF4	400735	broad.mit.edu	37	1	12939706	12939706	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr1:12939706C>G	ENST00000235349.5	-	4	1166	c.1096G>C	c.(1096-1098)Gac>Cac	p.D366H		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	366					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.D366H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTGGGAGTCTATGATGCCA	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											77	82	80					1																	12939706		1491	2670	4161	12862293	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1096G>C	1.37:g.12939706C>G	ENSP00000235349:p.Asp366His		12862293	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	c	11.12	1.545189	0.27652	.	.	ENSG00000243073	ENST00000235349	T	0.13778	2.56	1.48	1.48	0.22813	.	0.119879	0.53938	D	0.000059	T	0.38453	0.1041	M	0.91249	3.19	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07195	-1.0785	10	0.87932	D	0	.	6.4564	0.21932	0.0:1.0:0.0:0.0	.	366	O60810	PRAM4_HUMAN	H	366	ENSP00000235349:D366H	ENSP00000235349:D366H	D	-	1	0	PRAMEF4	12862293	0.006000	0.16342	0.088000	0.20740	0.017000	0.09413	1.044000	0.30329	1.137000	0.42214	0.400000	0.26472	GAC		0.502	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		G	12939706	C	G	12939706	3	3	178	1	0	0	0	0	1	0	0	0	12440	913	32	3	344	3	PRAMEF4	1	12939706	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08		12939706	236310915	1	10112											
RGS4	5999	broad.mit.edu	37	1	163044228	163044228	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr1:163044228C>T	ENST00000367909.6	+	5	836	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_Missense_Mutation_p.R148C|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000421743.2_Missense_Mutation_p.R263C|RGS4_ENST00000527809.1_Missense_Mutation_p.R148C|RGS4_ENST00000491263.1_3'UTR	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	166	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.R166C(1)|p.R263S(1)|p.R166S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GGATTCCTACCGCCGCTTCCT	0.502																																					Ovarian(76;1257 1738 3039 6086)											3	Substitution - Missense(3)	lung(2)|ovary(1)	1											233	249	243					1																	163044228		2203	4300	6503	161310852	SO:0001583	missense	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.496C>T	1.37:g.163044228C>T	ENSP00000356885:p.Arg166Cys		161310852	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844833	0.91197	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	4.84	4.84	0.62591	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.058915	0.64402	D	0.000002	T	0.05777	0.0151	L	0.54323	1.7	0.49389	D	0.999788	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.986	T	0.13629	-1.0502	9	0.87932	D	0	.	15.4794	0.75514	0.0:1.0:0.0:0.0	.	166;263	P49798;A7XA59	RGS4_HUMAN;.	C	263;166;148;148	ENSP00000397181:R263C;ENSP00000356885:R166C;ENSP00000433261:R148C;ENSP00000356882:R148C	ENSP00000356882:R148C	R	+	1	0	RGS4	161310852	0.990000	0.36364	0.998000	0.56505	0.991000	0.79684	4.564000	0.60830	2.501000	0.84356	0.591000	0.81541	CGC		0.502	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		T	163044228	C	T	163044228	3	4	178	1	0	0	0	0	1	0	0	0	13310	652	23	1	809	1	RGS4	1	163044228	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08	150104522	163044228	86206393	2	10113											
ARID4B	51742	broad.mit.edu	37	1	235345429	235345429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr1:235345429C>T	ENST00000264183.3	-	20	3302	c.2805G>A	c.(2803-2805)tgG>tgA	p.W935*	ARID4B_ENST00000349213.3_Nonsense_Mutation_p.W849*|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.W935*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	935					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.W935*(2)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTTTTAGGCCACTGTCCCT	0.463																																																2	Substitution - Nonsense(2)	ovary(2)	1											65	69	68					1																	235345429		2203	4300	6503	233412052	SO:0001587	stop_gained	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2805G>A	1.37:g.235345429C>T	ENSP00000264183:p.Trp935*		233412052	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_Mutation	SNP	ENST00000264183.3	37	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.628944|4.628944	0.87560|0.87560	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.76343|.	0.3974|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76971|.	-0.2761|.	3|.	.|0.51188	.|T	.|0.08	-4.2182|-4.2182	18.7115|18.7115	0.91658|0.91658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	335|935;849;935;935	.|.	.|ENSP00000264183:W935X	G|W	-|-	2|3	0|0	ARID4B|ARID4B	233412052|233412052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.763000|0.763000	0.43281|0.43281	7.320000|7.320000	0.79064|0.79064	2.654000|2.654000	0.90174|0.90174	0.585000|0.585000	0.79938|0.79938	GGC|TGG		0.463	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		T	235345429	C	T	235345429	4	4	178	1	0	0	0	0	0	1	0	0	920	740	26	2	1153	2	ARID4B	1	235345429	Nonsense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08	72301201	235345429	13905192	3	10114											
DTNB	1838	broad.mit.edu	37	2	25678274	25678274	+	Splice_Site	SNP	C	C	T	rs200296831		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr2:25678274C>T	ENST00000406818.3	-	11	1418	c.1169G>A	c.(1168-1170)cGt>cAt	p.R390H	DTNB_ENST00000405222.1_Intron|DTNB_ENST00000407186.1_Intron|DTNB_ENST00000288642.8_Splice_Site_p.R390H|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000404103.3_Splice_Site_p.R390H|DTNB_ENST00000545439.1_Splice_Site_p.R186H|DTNB_ENST00000407661.3_Splice_Site_p.R390H|DTNB_ENST00000496972.2_Splice_Site_p.R333H	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	390						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R390H(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCACTGACCGTGCACAGTG	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											32	33	33					2																	25678274		2057	4210	6267	25531778	SO:0001630	splice_region_variant	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1169+1G>A	2.37:g.25678274C>T			25531778	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165981	0.57476	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T	0.48522	2.15;2.14;2.14;2.15;2.14;0.81	5.11	5.11	0.69529	.	0.336663	0.33792	N	0.004546	T	0.44726	0.1307	L	0.58810	1.83	0.49130	D	0.999751	P;P;B;B;B;B;B;B	0.35493	0.505;0.505;0.003;0.001;0.002;0.0;0.003;0.004	B;B;B;B;B;B;B;B	0.32465	0.081;0.146;0.003;0.005;0.002;0.001;0.003;0.002	T	0.39761	-0.9598	9	.	.	.	-15.487	16.3891	0.83525	0.0:1.0:0.0:0.0	.	390;186;333;390;390;390;390;390	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	H	333;390;390;390;390;186;243	ENSP00000444463:R333H;ENSP00000384084:R390H;ENSP00000385482:R390H;ENSP00000385193:R390H;ENSP00000288642:R390H;ENSP00000444961:R186H	.	R	-	2	0	DTNB	25531778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.439000	0.66556	2.530000	0.85305	0.655000	0.94253	CGT		0.547	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147	Missense_Mutation	T	25678274	C	T	25678274	5	4	178	1	0	0	0	0	0	0	1	0	4789	666	23	1	754	1	DTNB	2	25678274	Splice_Site	SNP	C	TCGA-23-1032-01A-02W-0486-08		25678274	217521099	4	10115											
ZEB2	9839	broad.mit.edu	37	2	145187410	145187410	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr2:145187410T>C	ENST00000558170.2	-	3	1441	c.257A>G	c.(256-258)gAt>gGt	p.D86G	ZEB2_ENST00000409487.3_Missense_Mutation_p.D86G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D86G|ZEB2_ENST00000539609.3_Missense_Mutation_p.D86G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	86					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.D86G(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTTATTTCATCTTCCTCTTC	0.537																																					Melanoma(33;1235 1264 5755 16332)											1	Substitution - Missense(1)	ovary(1)	2											147	132	137					2																	145187410		2203	4300	6503	144903880	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.257A>G	2.37:g.145187410T>C	ENSP00000454157:p.Asp86Gly		144903880	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.47|15.47	2.842981|2.842981	0.51057|0.51057	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211;ENST00000435831|ENST00000419938;ENST00000431672;ENST00000440875	D;D;D;D;D;D;D|.	0.82984|.	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.159347|.	0.56097|.	D|.	0.000040|.	T|T	0.51534|0.51534	0.1680|0.1680	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;B;P;B;B|.	0.45348|.	0.708;0.189;0.856;0.247;0.247|.	B;B;P;B;B|.	0.46419|.	0.338;0.112;0.516;0.086;0.086|.	T|T	0.48747|0.48747	-0.9008|-0.9008	10|5	0.19590|.	T|.	0.45|.	-2.7614|-2.7614	15.9677|15.9677	0.79987|0.79987	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	86;86;86;86;86|.	F5H814;B7Z2P2;E7ESP8;A0JP08;O60315|.	.;.;.;.;ZEB2_HUMAN|.	G|V	81;86;86;86;86;86;86;86|62;76;73	ENSP00000443792:D86G;ENSP00000302501:D86G;ENSP00000386854:D86G;ENSP00000395496:D86G;ENSP00000376601:D86G;ENSP00000387256:D86G;ENSP00000400993:D86G|.	ENSP00000302501:D86G|.	D|M	-|-	2|1	0|0	ZEB2|ZEB2	144903880|144903880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.353000|7.353000	0.79414|0.79414	2.174000|2.174000	0.68829|0.68829	0.528000|0.528000	0.53228|0.53228	GAT|ATG		0.537	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		C	145187410	T	C	145187410	3	2	178	1	0	0	0	0	1	0	0	0	17624	1435	50	4	3419	4	ZEB2	2	145187410	Missense_Mutation	SNP	T	TCGA-23-1032-01A-02W-0486-08	119509136	145187410	98011963	5	10116											
XIRP2	129446	broad.mit.edu	37	2	168114746	168114746	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr2:168114746C>A	ENST00000409728.1	+	11	1878	c.1789C>A	c.(1789-1791)Cca>Aca	p.P597T	XIRP2_ENST00000420519.1_Missense_Mutation_p.P597T|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.P342T|XIRP2_ENST00000409756.2_Missense_Mutation_p.P564T|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.P564T|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.P597T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCTAAGTGGCCACCTGAAAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											80	79	79					2																	168114746		1874	4110	5984	167822992	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1789C>A	2.37:g.168114746C>A	ENSP00000386619:p.Pro597Thr		167822992	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419700	0.83559	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	D;D;D;D;D	0.96685	-3.77;-3.72;-3.77;-3.72;-4.09	6.06	6.06	0.98353	.	.	.	.	.	D	0.98337	0.9448	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98574	1.0647	8	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	564;597	A4UGR9-4;A4UGR9-6	.;.	T	564;597;564;597;342	ENSP00000386454:P564T;ENSP00000386619:P597T;ENSP00000386724:P564T;ENSP00000415541:P597T;ENSP00000386981:P342T	ENSP00000386454:P564T	P	+	1	0	XIRP2	167822992	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.311000	0.78958	2.882000	0.98803	0.655000	0.94253	CCA		0.403	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		A	168114746	C	A	168114746	3	1	178	1	0	0	0	0	1	0	0	0	17430	739	26	3	11107	3	XIRP2	2	168114746	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08	22927336	168114746	75084627	6	10117											
TTN	7273	broad.mit.edu	37	2	179585662	179585662	+	Missense_Mutation	SNP	G	G	A	rs201003628		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr2:179585662G>A	ENST00000591111.1	-	77	22357	c.22133C>T	c.(22132-22134)gCg>gTg	p.A7378V	TTN_ENST00000342992.6_Missense_Mutation_p.A6451V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A7695V			Q8WZ42	TITIN_HUMAN	titin	12938	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A6451V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTCAACGCTGTGCTGCA	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											59	59	59					2																	179585662		2020	4200	6220	179293907	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22133C>T	2.37:g.179585662G>A	ENSP00000465570:p.Ala7378Val		179293907	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.45	1.942707	0.34283	.	.	ENSG00000155657	ENST00000342992	T	0.67345	-0.26	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51941	0.1704	N	0.12502	0.225	0.80722	D	1	P	0.42248	0.774	B	0.35655	0.207	T	0.60762	-0.7199	9	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	7378	Q8WZ42	TITIN_HUMAN	V	6451	ENSP00000343764:A6451V	ENSP00000343764:A6451V	A	-	2	0	TTN	179293907	0.014000	0.17966	0.947000	0.38551	0.945000	0.59286	1.872000	0.39549	2.857000	0.98124	0.650000	0.86243	GCG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179585662	G	A	179585662	3	1	178	1	0	0	0	0	1	0	0	0	16735	1087	38	1	81581	1	TTN	2	179585662	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	11470916	179585662	63613711	7	10118											
RAPH1	65059	broad.mit.edu	37	2	204306134	204306134	+	Silent	SNP	G	G	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr2:204306134G>T	ENST00000319170.5	-	14	2078	c.1779C>A	c.(1777-1779)gcC>gcA	p.A593A	RAPH1_ENST00000374493.3_Silent_p.A645A|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	593					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.A593A(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTCCATTCTGGCCTAAAAGG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	2											23	27	26					2																	204306134		1775	3412	5187	204014379	SO:0001819	synonymous_variant	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1779C>A	2.37:g.204306134G>T			204014379	Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																				0.448	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		T	204306134	G	T	204306134	2	4	178	1	0	0	0	0	0	0	0	1	13053	1335	47	3		3	RAPH1	2	204306134	Silent	SNP	G	TCGA-23-1032-01A-02W-0486-08	24720472	204306134	38893239	8	10119											
ABCA12	26154	broad.mit.edu	37	2	215845230	215845230	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr2:215845230G>A	ENST00000272895.7	-	31	4936	c.4717C>T	c.(4717-4719)Cac>Tac	p.H1573Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.H1255Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1573	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.H1573Y(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCGTGAGGTGATACCCATCG	0.478																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	ovary(1)	2											87	84	85					2																	215845230		2203	4300	6503	215553475	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4717C>T	2.37:g.215845230G>A	ENSP00000272895:p.His1573Tyr		215553475	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156518	0.21454	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.59906	0.23;0.23	5.56	5.56	0.83823	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	N	0.17723	0.515	0.80722	D	1	D;D	0.69078	0.997;0.997	P;D	0.64042	0.854;0.921	T	0.48758	-0.9007	10	0.05833	T	0.94	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	1573;1255	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1573;1255	ENSP00000272895:H1573Y;ENSP00000374312:H1255Y	ENSP00000272895:H1573Y	H	-	1	0	ABCA12	215553475	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	5.841000	0.69409	2.771000	0.95319	0.650000	0.86243	CAC		0.478	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		A	215845230	G	A	215845230	3	1	178	1	0	0	0	0	1	0	0	0	30	1290	45	2	3162	2	ABCA12	2	215845230	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	11539096	215845230	27354143	9	10120											
SLC16A14	151473	broad.mit.edu	37	2	230910735	230910735	+	Silent	SNP	G	G	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr2:230910735G>T	ENST00000295190.4	-	4	1565	c.1107C>A	c.(1105-1107)atC>atA	p.I369I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	369						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.I369I(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGACGCCCAGGATCACTTTTC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	2											98	87	91					2																	230910735		2203	4300	6503	230618979	SO:0001819	synonymous_variant	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1107C>A	2.37:g.230910735G>T			230618979	A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	CCDS2473.1																																																																																				0.433	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		T	230910735	G	T	230910735	2	4	178	1	0	0	0	0	0	0	0	1	14410	1164	41	3		3	SLC16A14	2	230910735	Silent	SNP	G	TCGA-23-1032-01A-02W-0486-08	15065505	230910735	12288638	10	10121											
UGT1A7	54577	broad.mit.edu	37	2	234591343	234591343	+	Nonsense_Mutation	SNP	C	C	T	rs201879946	byFrequency	TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr2:234591343C>T	ENST00000373426.3	+	1	760	c.760C>T	c.(760-762)Cga>Tga	p.R254*	UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	254					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.R254*(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TTGGTTGTTGCGAACTGACTT	0.428													C|||	5	0.000998403	0	0	5008	,	,		19131	0.005		0	False		,,,				2504	0															1	Substitution - Nonsense(1)	ovary(1)	2											190	192	191					2																	234591343		2203	4300	6503	234256082	SO:0001587	stop_gained	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.760C>T	2.37:g.234591343C>T	ENSP00000362525:p.Arg254*		234256082	B8K293|O00473	Nonsense_Mutation	SNP	ENST00000373426.3	37	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141175	0.56936	.	.	ENSG00000244122	ENST00000373426	.	.	.	3.58	-5.14	0.02875	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9279	0.47201	0.7579:0.1508:0.0912:0.0	.	.	.	.	X	254	.	ENSP00000362525:R254X	R	+	1	2	UGT1A7	234256082	0.057000	0.20700	0.216000	0.23742	0.294000	0.27393	0.610000	0.24253	-1.024000	0.03338	0.479000	0.44913	CGA		0.428	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		T	234591343	C	T	234591343	4	4	178	1	0	0	0	0	0	1	0	0	16950	760	27	1	762	1	UGT1A7	2	234591343	Nonsense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08	3680608	234591343	8608030	11	10122											
ROBO2	6092	broad.mit.edu	37	3	77651424	77651424	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr3:77651424T>A	ENST00000461745.1	+	20	3818	c.2918T>A	c.(2917-2919)aTt>aAt	p.I973N	ROBO2_ENST00000487694.3_Missense_Mutation_p.I989N|ROBO2_ENST00000332191.8_Missense_Mutation_p.I973N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	973					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.I973N(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GATGGAGCCATTTATAGTAGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											115	110	112					3																	77651424		2004	4192	6196	77734114	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2918T>A	3.37:g.77651424T>A	ENSP00000417164:p.Ile973Asn		77734114	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	23.4|23.4|23.4	4.406638|4.406638|4.406638	0.83230|0.83230|0.83230	.|.|.	.|.|.	ENSG00000185008|ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000471893|ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.|.|T;T;T	.|.|0.68331	.|.|-0.32;-0.28;-0.22	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|.	.|.|0.000000	.|.|0.46442	.|.|D	.|.|0.000283	T|T|T	0.80243|0.80243|0.80243	0.4587|0.4587|0.4587	M|M|M	0.68593|0.68593|0.68593	2.085|2.085|2.085	.|.|0.34337	.|.|D	.|.|0.688379	.|.|D;D;D	.|.|0.89917	.|.|0.998;1.0;1.0	.|.|P;D;D	.|.|0.91635	.|.|0.896;0.999;0.987	T|T|T	0.80701|0.80701|0.80701	-0.1265|-0.1265|-0.1265	4|4|9	.|.|0.42905	.|.|T	.|.|0.14	.|.|.	15.9361|15.9361|15.9361	0.79707|0.79707|0.79707	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|.|989;973;973	.|.|Q19AB5;F8W703;Q9HCK4	.|.|.;.;ROBO2_HUMAN	I|Q|N	130|47|989;989;993;973;973	.|.|ENSP00000417335:I989N;ENSP00000417164:I973N;ENSP00000327536:I973N	.|.|ENSP00000327536:I973N	F|H|I	+|+|+	1|3|2	0|2|0	ROBO2|ROBO2|ROBO2	77734114|77734114|77734114	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.971000|0.971000|0.971000	0.66376|0.66376|0.66376	7.698000|7.698000|7.698000	0.84413|0.84413|0.84413	2.168000|2.168000|2.168000	0.68352|0.68352|0.68352	0.454000|0.454000|0.454000	0.30748|0.30748|0.30748	TTT|CAT|ATT		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		A	77651424	T	A	77651424	3	1	178	1	0	0	0	0	1	0	0	0	13517	1493	52	5	2998	5	ROBO2	3	77651424	Missense_Mutation	SNP	T	TCGA-23-1032-01A-02W-0486-08		77651424	120371006	12	10123											
GPR156	165829	broad.mit.edu	37	3	119892318	119892318	+	Splice_Site	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr3:119892318C>T	ENST00000464295.1	-	9	1379		c.e9-1		GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.?(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		ATTGCTTCAGCTGTTAGATAA	0.378																																																1	Unknown(1)	ovary(1)	3											170	154	160					3																	119892318		2203	4300	6503	121375008	SO:0001630	splice_region_variant	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.934-1G>A	3.37:g.119892318C>T			121375008	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Splice_Site	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243844	0.79912	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7505	0.88432	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPR156	121375008	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.640000	0.74319	2.427000	0.82271	0.462000	0.41574	.		0.378	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	Intron	T	119892318	C	T	119892318	5	4	178	1	0	0	0	0	0	0	1	0	6661	811	28	2	1519	2	GPR156	3	119892318	Splice_Site	SNP	C	TCGA-23-1032-01A-02W-0486-08	42240894	119892318	78130112	13	10124											
IGSF10	285313	broad.mit.edu	37	3	151163627	151163627	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr3:151163627G>A	ENST00000282466.3	-	4	4141	c.4142C>T	c.(4141-4143)aCa>aTa	p.T1381I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1381					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.T1381I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTTTCGGCTGTGGTTAGAAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											178	172	174					3																	151163627		2203	4300	6503	152646317	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4142C>T	3.37:g.151163627G>A	ENSP00000282466:p.Thr1381Ile		152646317	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313609	0.23908	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.70164	-0.46	4.8	1.35	0.21983	.	0.729003	0.11873	N	0.521276	T	0.47525	0.1450	N	0.19112	0.55	0.09310	N	0.999999	B	0.17465	0.022	B	0.10450	0.005	T	0.40384	-0.9566	10	0.59425	D	0.04	.	5.9327	0.19148	0.2256:0.1547:0.6197:0.0	.	1381	Q6WRI0	IGS10_HUMAN	I	1381;8	ENSP00000282466:T1381I	ENSP00000282466:T1381I	T	-	2	0	IGSF10	152646317	0.005000	0.15991	0.002000	0.10522	0.022000	0.10575	0.944000	0.29043	0.531000	0.28639	0.591000	0.81541	ACA		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151163627	G	A	151163627	3	1	178	1	0	0	0	0	1	0	0	0	7597	1377	48	2	3789	2	IGSF10	3	151163627	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	31271309	151163627	46858803	14	10125											
SMC4	10051	broad.mit.edu	37	3	160120593	160120593	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr3:160120593G>A	ENST00000357388.3	+	4	899	c.448G>A	c.(448-450)Gat>Aat	p.D150N	SMC4_ENST00000462787.1_Missense_Mutation_p.D150N|SMC4_ENST00000360111.2_Missense_Mutation_p.D150N|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000469762.1_Missense_Mutation_p.D125N|SMC4_ENST00000344722.5_Missense_Mutation_p.D150N|RP11-432B6.3_ENST00000483754.1_Intron|MIR15B_ENST00000385045.1_RNA	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	150					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.D150N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACATAATTCTGATGAACACAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	3											84	89	87					3																	160120593		2203	4299	6502	161603287	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.448G>A	3.37:g.160120593G>A	ENSP00000349961:p.Asp150Asn		161603287	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343661	0.95783	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T;T;T;T	0.67171	3.24;-0.25;3.24;3.24;-0.25;3.24;3.24;-0.25;3.24;-0.25;3.24;3.24;-0.25	5.38	5.38	0.77491	RecF/RecN/SMC (1);	0.048124	0.85682	D	0.000000	T	0.77765	0.4179	L	0.53729	1.69	0.80722	D	1	D;D;P	0.63880	0.974;0.993;0.918	P;D;P	0.63113	0.842;0.911;0.762	T	0.76796	-0.2827	10	0.44086	T	0.13	-26.4066	19.1303	0.93402	0.0:0.0:1.0:0.0	.	150;125;150	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	N	150;150;150;150;150;150;25;25;125;150;150;150;78;150	ENSP00000418820:D150N;ENSP00000349961:D150N;ENSP00000419247:D150N;ENSP00000420644:D150N;ENSP00000353225:D150N;ENSP00000417999:D25N;ENSP00000419360:D25N;ENSP00000417964:D125N;ENSP00000420121:D150N;ENSP00000420734:D150N;ENSP00000420817:D150N;ENSP00000417612:D78N;ENSP00000341382:D150N	ENSP00000341382:D150N	D	+	1	0	SMC4	161603287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.514000	0.84764	0.491000	0.48974	GAT		0.313	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			A	160120593	G	A	160120593	3	1	178	1	0	0	0	0	1	0	0	0	14788	1290	45	2	458	2	SMC4	3	160120593	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	8956966	160120593	37901837	15	10126											
AFM	173	broad.mit.edu	37	4	74351669	74351669	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr4:74351669A>G	ENST00000226355.3	+	4	454	c.361A>G	c.(361-363)Aga>Gga	p.R121G		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	121	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.R121G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATGCTCAAAGAAGACTCTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	4											99	101	100					4																	74351669		2203	4300	6503	74570533	SO:0001583	missense	173			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.361A>G	4.37:g.74351669A>G	ENSP00000226355:p.Arg121Gly		74570533	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199262	0.38806	.	.	ENSG00000079557	ENST00000226355	T	0.80994	-1.44	4.86	4.86	0.63082	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.054242	0.64402	D	0.000001	D	0.88771	0.6527	M	0.83774	2.66	0.32759	N	0.505351	D	0.76494	0.999	D	0.68943	0.961	D	0.91878	0.5513	10	0.87932	D	0	.	11.1378	0.48386	1.0:0.0:0.0:0.0	.	121	P43652	AFAM_HUMAN	G	121	ENSP00000226355:R121G	ENSP00000226355:R121G	R	+	1	2	AFM	74570533	0.473000	0.25878	0.592000	0.28758	0.104000	0.19210	1.882000	0.39648	1.953000	0.56701	0.482000	0.46254	AGA		0.403	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			G	74351669	A	G	74351669	3	3	178	1	0	0	0	0	1	0	0	0	361	64	3	4	375	4	AFM	4	74351669	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08		74351669	116802607	16	10127											
WDR17	116966	broad.mit.edu	37	4	177046420	177046420	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr4:177046420T>C	ENST00000280190.4	+	6	932	c.776T>C	c.(775-777)aTa>aCa	p.I259T	WDR17_ENST00000507824.2_Missense_Mutation_p.I242T|WDR17_ENST00000508596.1_Missense_Mutation_p.I235T|WDR17_ENST00000393643.2_Missense_Mutation_p.I235T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	259								p.I259T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTCTTGCATAACAACATTT	0.443																																																1	Substitution - Missense(1)	ovary(1)	4											189	192	191					4																	177046420		2203	4300	6503	177283414	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.776T>C	4.37:g.177046420T>C	ENSP00000280190:p.Ile259Thr		177283414	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701736	0.68501	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.67171	-0.25;-0.25;-0.25	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71195	0.3311	M	0.75447	2.3	0.80722	D	1	P;P	0.45348	0.856;0.856	B;B	0.43809	0.432;0.432	T	0.76353	-0.2990	10	0.72032	D	0.01	-18.5221	16.0847	0.81038	0.0:0.0:0.0:1.0	.	235;259	E7EQX0;Q8IZU2	.;WDR17_HUMAN	T	235;235;259;242	ENSP00000422763:I235T;ENSP00000377258:I235T;ENSP00000280190:I259T	ENSP00000280190:I259T	I	+	2	0	WDR17	177283414	1.000000	0.71417	0.996000	0.52242	0.471000	0.32888	7.361000	0.79497	2.199000	0.70637	0.528000	0.53228	ATA		0.443	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			C	177046420	T	C	177046420	3	2	178	1	0	0	0	0	1	0	0	0	17277	1406	49	4	794	4	WDR17	4	177046420	Missense_Mutation	SNP	T	TCGA-23-1032-01A-02W-0486-08	102694751	177046420	14107856	17	10128											
HSPA1L	3305	broad.mit.edu	37	6	31778436	31778436	+	Silent	SNP	G	G	T	rs199726010		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr6:31778436G>T	ENST00000375654.4	-	2	1503	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	HSPA1L_ENST00000417199.3_Silent_p.P438P	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	438					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.P438P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGCACCCCGGGTTGGTTGT	0.587																																																1	Substitution - coding silent(1)	ovary(1)	6											126	126	126					6																	31778436		2203	4300	6503	31886415	SO:0001819	synonymous_variant	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1314C>A	6.37:g.31778436G>T			31886415	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	CCDS34413.1																																																																																				0.587	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			T	31778436	G	T	31778436	2	4	178	1	0	0	0	0	0	0	0	1	7410	1103	39	3		3	HSPA1L	6	31778436	Silent	SNP	G	TCGA-23-1032-01A-02W-0486-08		31778436	139336631	18	10129											
GPRC6A	222545	broad.mit.edu	37	6	117130679	117130679	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr6:117130679A>T	ENST00000310357.3	-	2	317	c.296T>A	c.(295-297)aTc>aAc	p.I99N	GPRC6A_ENST00000530250.1_Missense_Mutation_p.I99N|GPRC6A_ENST00000368549.3_Missense_Mutation_p.I99N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	99					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I99N(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGTGTCATAGATTTCATACCC	0.398																																																1	Substitution - Missense(1)	ovary(1)	6											112	103	106					6																	117130679		2203	4300	6503	117237372	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.296T>A	6.37:g.117130679A>T	ENSP00000309493:p.Ile99Asn		117237372	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157615	0.78114	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.84873	-1.91;-1.91;-1.91	4.81	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.91399	0.7286	M	0.88906	2.99	0.33103	D	0.539495	D;D;D	0.71674	0.998;0.997;0.998	P;P;D	0.68353	0.894;0.858;0.957	D	0.92549	0.6048	10	0.87932	D	0	.	14.5343	0.67950	1.0:0.0:0.0:0.0	.	99;99;99	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	N	99	ENSP00000309493:I99N;ENSP00000357537:I99N;ENSP00000433465:I99N	ENSP00000309493:I99N	I	-	2	0	GPRC6A	117237372	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.198000	0.89729	2.015000	0.59207	0.528000	0.53228	ATC		0.398	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			T	117130679	A	T	117130679	3	4	178	1	0	0	0	0	1	0	0	0	6728	333	12	5	2504	5	GPRC6A	6	117130679	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	85352243	117130679	53984388	19	10130											
THBS2	7058	broad.mit.edu	37	6	169648825	169648825	+	Missense_Mutation	SNP	G	G	A	rs369355659		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr6:169648825G>A	ENST00000366787.3	-	4	545	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	99	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T99M(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGCCAACAGCGTGCCCCTGGA	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)											1	Substitution - Missense(1)	ovary(1)	6						G	MET/THR	0,4406		0,0,2203	113	101	105		296	4.6	1	6		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	THBS2	NM_003247.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	99/1173	169648825	1,13005	2203	4300	6503	169390750	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.296C>T	6.37:g.169648825G>A	ENSP00000355751:p.Thr99Met		169390750	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426381	0.62733	0.0	1.16E-4	ENSG00000186340	ENST00000366787	T	0.02552	4.25	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.42172	U	0.000746	T	0.10809	0.0264	M	0.77820	2.39	0.52501	D	0.999954	D	0.89917	1.0	D	0.91635	0.999	T	0.02358	-1.1171	10	0.87932	D	0	-23.6862	17.7033	0.88301	0.0:0.0:1.0:0.0	.	99	P35442	TSP2_HUMAN	M	99	ENSP00000355751:T99M	ENSP00000355751:T99M	T	-	2	0	THBS2	169390750	1.000000	0.71417	0.964000	0.40570	0.066000	0.16364	9.187000	0.94912	2.250000	0.74265	0.563000	0.77884	ACG		0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		A	169648825	G	A	169648825	3	1	178	1	0	0	0	0	1	0	0	0	15854	1145	40	1	3302	1	THBS2	6	169648825	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	52518146	169648825	1466242	20	10131											
GRM3	2913	broad.mit.edu	37	7	86469005	86469005	+	Silent	SNP	A	A	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr7:86469005A>G	ENST00000361669.2	+	4	3274	c.2175A>G	c.(2173-2175)acA>acG	p.T725T	GRM3_ENST00000546348.1_Silent_p.T317T|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.T597T|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	725					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.T725T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AGCGGGAAACAGTCATCCTAA	0.502																																					GBM(52;969 1098 3139 52280)											1	Substitution - coding silent(1)	ovary(1)	7											110	97	101					7																	86469005		2203	4300	6503	86306941	SO:0001819	synonymous_variant	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2175A>G	7.37:g.86469005A>G			86306941	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	CCDS5600.1																																																																																				0.502	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			G	86469005	A	G	86469005	2	3	178	1	0	0	0	0	0	0	0	1	6798	175	7	4		4	GRM3	7	86469005	Silent	SNP	A	TCGA-23-1032-01A-02W-0486-08		86469005	72669658	21	10132											
LRRN3	54674	broad.mit.edu	37	7	110763551	110763551	+	Silent	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr7:110763551C>T	ENST00000422987.3	+	2	1554	c.723C>T	c.(721-723)atC>atT	p.I241I	LRRN3_ENST00000308478.5_Silent_p.I241I|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Silent_p.I241I|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	241					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I241I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAGAAAGCATCTCTTTTTACG	0.343																																																1	Substitution - coding silent(1)	ovary(1)	7											60	63	62					7																	110763551		2202	4299	6501	110550787	SO:0001819	synonymous_variant	54674			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.723C>T	7.37:g.110763551C>T			110550787	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	CCDS5754.1																																																																																				0.343	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		T	110763551	C	T	110763551	2	4	178	1	0	0	0	0	0	0	0	1	9036	903	32	2		2	LRRN3	7	110763551	Silent	SNP	C	TCGA-23-1032-01A-02W-0486-08	24294546	110763551	48375112	22	10133											
PPP1R3A	5506	broad.mit.edu	37	7	113519408	113519408	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr7:113519408T>A	ENST00000284601.3	-	4	1807	c.1739A>T	c.(1738-1740)gAt>gTt	p.D580V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	580					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D580V(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGAGACACATCTGCTGTGAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	7											116	111	113					7																	113519408		2203	4300	6503	113306644	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1739A>T	7.37:g.113519408T>A	ENSP00000284601:p.Asp580Val		113306644	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989730	0.54041	.	.	ENSG00000154415	ENST00000284601	T	0.20463	2.07	5.89	2.34	0.29019	.	0.367658	0.26407	N	0.024551	T	0.26011	0.0634	M	0.69823	2.125	0.20489	N	0.999894	D	0.60575	0.988	P	0.46479	0.518	T	0.14090	-1.0485	10	0.87932	D	0	-0.3165	7.6128	0.28139	0.0:0.2351:0.0:0.7649	.	580	Q16821	PPR3A_HUMAN	V	580	ENSP00000284601:D580V	ENSP00000284601:D580V	D	-	2	0	PPP1R3A	113306644	0.000000	0.05858	0.004000	0.12327	0.062000	0.15995	0.087000	0.14958	0.505000	0.28104	0.460000	0.39030	GAT		0.483	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113519408	T	A	113519408	3	1	178	1	0	0	0	0	1	0	0	0	12374	1435	50	5	1633	5	PPP1R3A	7	113519408	Missense_Mutation	SNP	T	TCGA-23-1032-01A-02W-0486-08	2755857	113519408	45619255	23	10134											
TMEM176B	28959	broad.mit.edu	37	7	150493653	150493653	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr7:150493653G>A	ENST00000447204.2	-	2	377	c.5C>T	c.(4-6)aCg>aTg	p.T2M	TMEM176B_ENST00000429904.2_Missense_Mutation_p.T2M|TMEM176B_ENST00000450753.2_Missense_Mutation_p.T2M|TMEM176B_ENST00000434545.1_Missense_Mutation_p.T2M|TMEM176B_ENST00000492607.1_Missense_Mutation_p.T2M|TMEM176B_ENST00000326442.5_Missense_Mutation_p.T2M	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	2					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.T2M(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGTTTTGCGTCATCCTGCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	7											66	60	62					7																	150493653		2203	4300	6503	150124586	SO:0001583	missense	28959			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.5C>T	7.37:g.150493653G>A	ENSP00000410269:p.Thr2Met		150124586	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342108	0.24339	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.09723	3.1;3.1;3.1;3.1;3.1;2.95	4.92	2.68	0.31781	.	1.351640	0.05234	N	0.510941	T	0.17152	0.0412	L	0.44542	1.39	0.09310	N	1	D;D	0.60160	0.987;0.987	P;P	0.50754	0.649;0.649	T	0.22626	-1.0211	10	0.54805	T	0.06	-1.4617	8.1318	0.31031	0.2229:0.0:0.7771:0.0	.	2;2	E9PAV4;Q3YBM2	.;T176B_HUMAN	M	2	ENSP00000419258:T2M;ENSP00000318409:T2M;ENSP00000410269:T2M;ENSP00000413531:T2M;ENSP00000397810:T2M;ENSP00000404831:T2M	ENSP00000318409:T2M	T	-	2	0	TMEM176B	150124586	0.001000	0.12720	0.032000	0.17829	0.085000	0.17905	0.475000	0.22164	1.033000	0.39918	0.467000	0.42956	ACG		0.512	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		A	150493653	G	A	150493653	3	1	178	1	0	0	0	0	1	0	0	0	16093	1145	40	1	831	1	TMEM176B	7	150493653	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	36974245	150493653	8645010	24	10135											
TEX15	56154	broad.mit.edu	37	8	30706056	30706056	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr8:30706056A>G	ENST00000256246.2	-	1	552	c.478T>C	c.(478-480)Tct>Cct	p.S160P	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	160					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S160P(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGACACAGAAATTGGGAAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	8											74	73	73					8																	30706056		2203	4300	6503	30825598	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.478T>C	8.37:g.30706056A>G	ENSP00000256246:p.Ser160Pro		30825598		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.551425	0.27739	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	5.66	3.13	0.36017	.	0.452720	0.20979	N	0.082256	T	0.06917	0.0176	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.26326	-1.0106	10	0.87932	D	0	.	4.8167	0.13371	0.6286:0.0:0.3714:0.0	.	160	Q9BXT5	TEX15_HUMAN	P	160	ENSP00000256246:S160P	ENSP00000256246:S160P	S	-	1	0	TEX15	30825598	0.000000	0.05858	0.001000	0.08648	0.931000	0.56810	0.742000	0.26216	1.092000	0.41356	0.533000	0.62120	TCT		0.453	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			G	30706056	A	G	30706056	3	3	178	1	0	0	0	0	1	0	0	0	15779	246	9	4	7907	4	TEX15	8	30706056	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08		30706056	115657966	25	10136											
IDO2	169355	broad.mit.edu	37	8	39840218	39840218	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr8:39840218C>A	ENST00000389060.4	+	4	363	c.363C>A	c.(361-363)aaC>aaA	p.N121K	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.N134K			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	121					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.N121K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCTCCAGGAACTTGGGGCTCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	8											74	74	74					8																	39840218		1887	4105	5992	39959375	SO:0001583	missense	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.363C>A	8.37:g.39840218C>A	ENSP00000426447:p.Asn121Lys		39959375	A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37		.	.	.	.	.	.	.	.	.	.	C	0.532	-0.857355	0.02630	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.39229	1.09;1.09	5.57	2.76	0.32466	.	0.894012	0.10063	N	0.720654	T	0.21427	0.0516	N	0.11023	0.085	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.28776	-1.0033	9	.	.	.	.	5.6595	0.17660	0.0:0.6629:0.1619:0.1752	.	134	F5H5G0	.	K	134;121	ENSP00000443432:N134K;ENSP00000426447:N121K	.	N	+	3	2	IDO2	39959375	0.000000	0.05858	0.113000	0.21522	0.971000	0.66376	-0.187000	0.09656	0.296000	0.22592	0.467000	0.42956	AAC		0.463	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		A	39840218	C	A	39840218	3	1	178	1	0	0	0	0	1	0	0	0	7502	564	20	3	420	3	IDO2	8	39840218	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08	9134162	39840218	106523804	26	10137											
SPAG1	6674	broad.mit.edu	37	8	101253167	101253167	+	Silent	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr8:101253167C>T	ENST00000388798.2	+	19	2889	c.2698C>T	c.(2698-2700)Ctg>Ttg	p.L900L	SPAG1_ENST00000251809.3_Silent_p.L900L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	900					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.L900L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AATTGAACAGCTGTTTGAGGA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	8											82	82	82					8																	101253167		2203	4300	6503	101322343	SO:0001819	synonymous_variant	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2698C>T	8.37:g.101253167C>T			101322343	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Silent	SNP	ENST00000388798.2	37	CCDS34930.1																																																																																				0.338	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		T	101253167	C	T	101253167	2	4	178	1	0	0	0	0	0	0	0	1	14978	796	28	2		2	SPAG1	8	101253167	Silent	SNP	C	TCGA-23-1032-01A-02W-0486-08	61412949	101253167	45110855	27	10138											
KIAA1797	54914	broad.mit.edu	37	9	20874701	20874701	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr9:20874701C>G	ENST00000380249.1	+	21	2576	c.2212C>G	c.(2212-2214)Cct>Gct	p.P738A	FOCAD_ENST00000604828.1_3'UTR|FOCAD_ENST00000338382.6_Missense_Mutation_p.P738A|FOCAD_ENST00000605086.1_Missense_Mutation_p.P174A	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	738						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.P738A(1)									AATTCCCATTCCTGAAGAGTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	9											177	162	167					9																	20874701		2203	4300	6503	20864701	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2212C>G	9.37:g.20874701C>G	ENSP00000369599:p.Pro738Ala		20864701	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	3.643	-0.073102	0.07228	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.66280	-0.2;-0.2	5.21	2.02	0.26589	Armadillo-type fold (1);	0.434923	0.26525	N	0.023893	T	0.42832	0.1220	L	0.43152	1.355	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.10917	-1.0609	10	0.13108	T	0.6	-18.8689	2.0074	0.03480	0.1345:0.488:0.1314:0.2461	.	738	Q5VW36	K1797_HUMAN	A	738	ENSP00000369599:P738A;ENSP00000344307:P738A	ENSP00000344307:P738A	P	+	1	0	KIAA1797	20864701	0.004000	0.15560	0.255000	0.24374	0.103000	0.19146	0.164000	0.16542	0.618000	0.30179	-0.157000	0.13467	CCT		0.368	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		G	20874701	C	G	20874701	3	3	178	1	0	0	0	0	1	0	0	0	8258	855	30	3	2282	3	KIAA1797	9	20874701	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08		20874701	120338730	28	10139											
ITIH5	80760	broad.mit.edu	37	10	7618800	7618800	+	Missense_Mutation	SNP	C	C	G	rs529874492		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr10:7618800C>G	ENST00000256861.6	-	10	1672	c.1594G>C	c.(1594-1596)Gcc>Ccc	p.A532P	ITIH5_ENST00000397146.2_Missense_Mutation_p.A532P|ITIH5_ENST00000298441.6_Missense_Mutation_p.A318P|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.A314P|ITIH5_ENST00000397145.2_Missense_Mutation_p.A532P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	532					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A532P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGTTGCTGGCGGTGACCTCC	0.567																																																1	Substitution - Missense(1)	ovary(1)	10											87	81	83					10																	7618800		2203	4300	6503	7658806	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1594G>C	10.37:g.7618800C>G	ENSP00000256861:p.Ala532Pro		7658806	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	C	24.3	4.510844	0.85389	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	.	.	.	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.36065	-0.9763	9	0.87932	D	0	-34.9461	19.1863	0.93645	0.0:1.0:0.0:0.0	.	532;532;318	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	P	532;532;318;314;532	ENSP00000256861:A532P;ENSP00000380333:A532P;ENSP00000298441:A318P;ENSP00000387969:A314P;ENSP00000380332:A532P	ENSP00000256861:A532P	A	-	1	0	ITIH5	7658806	1.000000	0.71417	0.989000	0.46669	0.855000	0.48748	7.380000	0.79704	2.516000	0.84829	0.462000	0.41574	GCC		0.567	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		G	7618800	C	G	7618800	3	3	178	1	0	0	0	0	1	0	0	0	7907	768	27	3	1377	3	ITIH5	10	7618800	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08		7618800	127915947	29	10140											
ANKRD30A	91074	broad.mit.edu	37	10	37430973	37430973	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr10:37430973T>A	ENST00000602533.1	+	7	1079	c.980T>A	c.(979-981)aTc>aAc	p.I327N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I327N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I327N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	383					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I327N(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTAGGAAGATCGCATGGGAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											114	112	112					10																	37430973		1841	4094	5935	37470979	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.980T>A	10.37:g.37430973T>A	ENSP00000473551:p.Ile327Asn		37470979	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	10.22	1.289020	0.23478	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39997	1.15;1.05	0.104	0.104	0.14531	.	.	.	.	.	T	0.21841	0.0526	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.39738	0.308	T	0.13282	-1.0515	8	0.59425	D	0.04	.	.	.	.	.	383	Q9BXX3	AN30A_HUMAN	N	327	ENSP00000354432:I327N;ENSP00000363792:I327N	ENSP00000354432:I327N	I	+	2	0	ANKRD30A	37470979	0.978000	0.34361	0.266000	0.24541	0.267000	0.26476	1.253000	0.32886	0.149000	0.19098	0.147000	0.16070	ATC		0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		A	37430973	T	A	37430973	3	1	178	1	0	0	0	0	1	0	0	0	658	1435	50	5	1006	5	ANKRD30A	10	37430973	Missense_Mutation	SNP	T	TCGA-23-1032-01A-02W-0486-08	29812173	37430973	98103774	30	10141											
DLG5	9231	broad.mit.edu	37	10	79595499	79595499	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr10:79595499A>C	ENST00000372391.2	-	8	1624	c.1619T>G	c.(1618-1620)aTc>aGc	p.I540S	DLG5_ENST00000372388.2_Missense_Mutation_p.I540S	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	540					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.I540S(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCCATACCGGATGCTGTCACG	0.607																																																1	Substitution - Missense(1)	ovary(1)	10											72	57	62					10																	79595499		2203	4300	6503	79265505	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1619T>G	10.37:g.79595499A>C	ENSP00000361467:p.Ile540Ser		79265505	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222518	0.79464	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.08102	3.13;3.19	5.8	5.8	0.92144	.	0.000000	0.39834	N	0.001249	T	0.26882	0.0658	L	0.59436	1.845	0.49213	D	0.99976	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.994	T	0.00423	-1.1748	10	0.87932	D	0	.	16.1549	0.81657	1.0:0.0:0.0:0.0	.	430;540;540	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	S	540	ENSP00000361467:I540S;ENSP00000361464:I540S	ENSP00000361464:I540S	I	-	2	0	DLG5	79265505	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	8.887000	0.92456	2.209000	0.71365	0.533000	0.62120	ATC		0.607	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			C	79595499	A	C	79595499	3	2	178	1	0	0	0	0	1	0	0	0	4558	333	12	5	4240	5	DLG5	10	79595499	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	42164526	79595499	55939248	31	10142											
ZNF518A	9849	broad.mit.edu	37	10	97916860	97916860	+	RNA	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr10:97916860C>T	ENST00000534948.1	+	0	1638							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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.P261S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGGTACTTTTCCCTTCACTTG	0.343																																																1	Substitution - Missense(1)	ovary(1)	10											88	85	86					10																	97916860		1888	4115	6003	97906850			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916860C>T			97906850	A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.343	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		T	97916860	C	T	97916860	1	4	178	0	1	0	0	0	0	0	0	0	17962	855	30	2		2	ZNF518A	10	97916860	RNA	SNP	C	TCGA-23-1032-01A-02W-0486-08	18321361	97916860	37617887	32	10143											
LOXL4	84171	broad.mit.edu	37	10	100015394	100015394	+	Missense_Mutation	SNP	C	C	G	rs199622385		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr10:100015394C>G	ENST00000260702.3	-	10	1681	c.1531G>C	c.(1531-1533)Ggg>Cgg	p.G511R	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	511	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.G511R(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TGCACCGGCCCGTGCCTCTGG	0.682																																																1	Substitution - Missense(1)	ovary(1)	10											54	55	55					10																	100015394		2203	4299	6502	100005384	SO:0001583	missense	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1531G>C	10.37:g.100015394C>G	ENSP00000260702:p.Gly511Arg		100005384	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995168	0.74703	.	.	ENSG00000138131	ENST00000260702	T	0.35605	1.3	5.25	5.25	0.73442	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.216095	0.49916	D	0.000138	T	0.57681	0.2070	M	0.76328	2.33	0.44345	D	0.997235	D	0.76494	0.999	D	0.71414	0.973	T	0.60979	-0.7155	10	0.66056	D	0.02	.	11.9075	0.52721	0.0:0.9192:0.0:0.0808	.	511	Q96JB6	LOXL4_HUMAN	R	511	ENSP00000260702:G511R	ENSP00000260702:G511R	G	-	1	0	LOXL4	100005384	0.962000	0.33011	0.998000	0.56505	0.961000	0.63080	2.423000	0.44705	2.456000	0.83038	0.561000	0.74099	GGG		0.682	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		G	100015394	C	G	100015394	3	3	178	1	0	0	0	0	1	0	0	0	8902	652	23	3	763	3	LOXL4	10	100015394	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08	2098534	100015394	35519353	33	10144											
SLC6A5	9152	broad.mit.edu	37	11	20649563	20649563	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr11:20649563T>C	ENST00000525748.1	+	9	1706	c.1433T>C	c.(1432-1434)tTa>tCa	p.L478S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	478					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L478S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTCTTCTCTTTATCTGCTGCA	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											133	122	126					11																	20649563		2203	4300	6503	20606139	SO:0001583	missense	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1433T>C	11.37:g.20649563T>C	ENSP00000434364:p.Leu478Ser		20606139	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997567	0.74818	.	.	ENSG00000165970	ENST00000525748	T	0.80033	-1.33	5.65	5.65	0.86999	.	0.075804	0.53938	D	0.000054	D	0.92567	0.7639	H	0.94847	3.59	0.52501	D	0.999952	D	0.89917	1.0	D	0.87578	0.998	D	0.94488	0.7699	10	0.87932	D	0	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	478	Q9Y345	SC6A5_HUMAN	S	478	ENSP00000434364:L478S	ENSP00000434364:L478S	L	+	2	0	SLC6A5	20606139	0.994000	0.37717	0.199000	0.23439	0.997000	0.91878	4.967000	0.63722	2.279000	0.76181	0.533000	0.62120	TTA		0.483	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		C	20649563	T	C	20649563	3	2	178	1	0	0	0	0	1	0	0	0	14690	1764	61	4	1467	4	SLC6A5	11	20649563	Missense_Mutation	SNP	T	TCGA-23-1032-01A-02W-0486-08		20649563	114356953	34	10145											
LRRC4C	57689	broad.mit.edu	37	11	40137798	40137798	+	Silent	SNP	A	A	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr11:40137798A>C	ENST00000278198.2	-	2	2008	c.45T>G	c.(43-45)ggT>ggG	p.G15G	LRRC4C_ENST00000528697.1_Silent_p.G15G|LRRC4C_ENST00000530763.1_Silent_p.G15G|LRRC4C_ENST00000527150.1_Silent_p.G15G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	15					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.G15G(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TAAACCTAGGACCTATCATTA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	11											101	101	101					11																	40137798		2203	4300	6503	40094374	SO:0001819	synonymous_variant	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.45T>G	11.37:g.40137798A>C			40094374	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.473	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		C	40137798	A	C	40137798	2	2	178	1	0	0	0	0	0	0	0	1	9008	262	10	5		5	LRRC4C	11	40137798	Silent	SNP	A	TCGA-23-1032-01A-02W-0486-08	19488235	40137798	94868718	35	10146											
OR5L1	219437	broad.mit.edu	37	11	55579783	55579783	+	Missense_Mutation	SNP	G	G	C	rs61735738	byFrequency	TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr11:55579783G>C	ENST00000333973.2	+	1	930	c.841G>C	c.(841-843)Gtg>Ctg	p.V281L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V281L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTACACAGTCGTGATTCCTAT	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											66	62	63					11																	55579783		2200	4296	6496	55336359	SO:0001583	missense	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.841G>C	11.37:g.55579783G>C	ENSP00000335529:p.Val281Leu		55336359	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	12.87	2.067051	0.36470	.	.	ENSG00000186117	ENST00000333973	T	0.00227	8.5	4.12	0.896	0.19253	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000237	T	0.00300	0.0009	L	0.53780	1.695	0.09310	N	1	P	0.49447	0.924	P	0.57720	0.826	T	0.47799	-0.9089	10	0.66056	D	0.02	-35.2853	5.4059	0.16320	0.1862:0.0:0.564:0.2498	.	281	Q8NGL2	OR5L1_HUMAN	L	281	ENSP00000335529:V281L	ENSP00000335529:V281L	V	+	1	0	OR5L1	55336359	0.001000	0.12720	0.361000	0.25849	0.295000	0.27426	0.156000	0.16382	0.736000	0.32559	0.428000	0.28381	GTG		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		C	55579783	G	C	55579783	3	2	178	1	0	0	0	0	1	0	0	0	11170	1145	40	3	843	3	OR5L1	11	55579783	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	15441985	55579783	79426733	36	10147											
LPXN	9404	broad.mit.edu	37	11	58317325	58317325	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr11:58317325T>C	ENST00000395074.2	-	7	764	c.676A>G	c.(676-678)Atg>Gtg	p.M226V	LPXN_ENST00000528954.1_Missense_Mutation_p.M231V|LPXN_ENST00000528489.1_Missense_Mutation_p.M206V	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	226	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.M226V(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTCTGGTTCATTGCTGTCAGC	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											98	84	89					11																	58317325		2201	4295	6496	58073901	SO:0001583	missense	9404			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.676A>G	11.37:g.58317325T>C	ENSP00000378512:p.Met226Val		58073901	B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967186	0.53507	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.87103	-2.21;-2.21	5.95	4.82	0.62117	Zinc finger, LIM-type (5);	0.099080	0.64402	D	0.000001	D	0.88127	0.6353	L	0.59912	1.85	0.50467	D	0.999873	P;P;B	0.52463	0.883;0.953;0.425	P;P;B	0.52031	0.688;0.621;0.304	D	0.87634	0.2518	10	0.66056	D	0.02	.	9.8141	0.40842	0.2741:0.0:0.0:0.7259	.	206;231;226	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	V	231;226	ENSP00000431284:M231V;ENSP00000378512:M226V	ENSP00000378512:M226V	M	-	1	0	LPXN	58073901	0.359000	0.24955	0.998000	0.56505	0.987000	0.75469	0.592000	0.23984	1.058000	0.40530	-0.327000	0.08410	ATG		0.488	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		C	58317325	T	C	58317325	3	2	178	1	0	0	0	0	1	0	0	0	8929	1493	52	4	496	4	LPXN	11	58317325	Missense_Mutation	SNP	T	TCGA-23-1032-01A-02W-0486-08	2737542	58317325	76689191	37	10148											
SLC22A25	387601	broad.mit.edu	37	11	62996901	62996901	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr11:62996901A>G	ENST00000306494.6	-	1	223	c.224T>C	c.(223-225)aTc>aCc	p.I75T	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.I75T(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TGGGATGGAGATTCTCAGGAG	0.517																																																1	Substitution - Missense(1)	ovary(1)	11											137	124	129					11																	62996901		2201	4298	6499	62753477	SO:0001583	missense	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.224T>C	11.37:g.62996901A>G	ENSP00000307443:p.Ile75Thr		62753477		Missense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646546	0.47258	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.34859	1.34	3.54	3.54	0.40534	Major facilitator superfamily domain (1);	0.737600	0.12650	N	0.450490	T	0.59905	0.2228	M	0.86805	2.84	0.80722	D	1	D;D	0.69078	0.982;0.997	P;P	0.62649	0.889;0.905	T	0.62205	-0.6903	10	0.72032	D	0.01	.	8.8801	0.35370	1.0:0.0:0.0:0.0	.	73;75	A4IF29;Q6T423	.;S22AP_HUMAN	T	75	ENSP00000307443:I75T	ENSP00000307443:I75T	I	-	2	0	SLC22A25	62753477	0.971000	0.33674	0.994000	0.49952	0.586000	0.36452	2.601000	0.46249	1.389000	0.46526	0.240000	0.17902	ATC		0.517	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		G	62996901	A	G	62996901	3	3	178	1	0	0	0	0	1	0	0	0	14457	333	12	4	1455	4	SLC22A25	11	62996901	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	4679576	62996901	72009615	38	10149											
CLLU1	574028	broad.mit.edu	37	12	92818613	92818613	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr12:92818613T>G	ENST00000378485.1	+	1	879	c.157T>G	c.(157-159)Tct>Gct	p.S53A	RP11-693J15.4_ENST00000508671.1_RNA|CLLU1OS_ENST00000378487.2_Intron|CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Intron	NM_001025233.1	NP_001020404.1	Q5K131	CLLU1_HUMAN	chronic lymphocytic leukemia up-regulated 1	53						cytoplasm (GO:0005737)		p.S53A(1)		NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TTATTTATTTTCTCAAAACAA	0.303																																																1	Substitution - Missense(1)	ovary(1)	12											36	34	35					12																	92818613		1793	4054	5847	91342744	SO:0001583	missense	574028			AJ845162		12q22	2012-04-19			ENSG00000257127	ENSG00000257127			29841	protein-coding gene	gene with protein product						19726446	Standard	NR_027932		Approved		uc001tcg.1	Q5K131	OTTHUMG00000170103	ENST00000378485.1:c.157T>G	12.37:g.92818613T>G	ENSP00000367746:p.Ser53Ala		91342744		Missense_Mutation	SNP	ENST00000378485.1	37		.	.	.	.	.	.	.	.	.	.	T	3.802	-0.041578	0.07452	.	.	ENSG00000257127	ENST00000378485	T	0.52295	0.67	2.22	1.0	0.19881	.	.	.	.	.	T	0.25938	0.0632	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.22521	-1.0214	7	0.87932	D	0	.	4.2089	0.10502	0.0:0.178:0.0:0.822	.	.	.	.	A	53	ENSP00000367746:S53A	ENSP00000367746:S53A	S	+	1	0	AC063949.1	91342744	0.112000	0.22096	0.055000	0.19348	0.014000	0.08584	0.645000	0.24782	0.268000	0.21939	0.523000	0.50628	TCT		0.303	CLLU1-003	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000366643.1	NM_001025233		G	92818613	T	G	92818613	3	3	178	1	0	0	0	0	1	0	0	0	3540	1783	62	5	159	5	CLLU1	12	92818613	Missense_Mutation	SNP	T	TCGA-23-1032-01A-02W-0486-08		92818613	41033282	39	10150											
WSB2	55884	broad.mit.edu	37	12	118472046	118472046	+	Silent	SNP	T	T	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr12:118472046T>C	ENST00000315436.3	-	9	1311	c.1170A>G	c.(1168-1170)ccA>ccG	p.P390P	WSB2_ENST00000542304.1_Silent_p.P165P|WSB2_ENST00000535496.1_Silent_p.P392P|WSB2_ENST00000544233.1_Silent_p.P180P|WSB2_ENST00000536738.1_5'Flank|WSB2_ENST00000441406.2_Silent_p.P407P	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	390	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.P390P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTGGGGATTGGCAGTGCTA	0.468																																																1	Substitution - coding silent(1)	ovary(1)	12											248	210	223					12																	118472046		2203	4300	6503	116956429	SO:0001819	synonymous_variant	55884			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.1170A>G	12.37:g.118472046T>C			116956429	B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	ENST00000315436.3	37	CCDS9186.1																																																																																				0.468	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		C	118472046	T	C	118472046	2	2	178	1	0	0	0	0	0	0	0	1	17405	1799	63	4		4	WSB2	12	118472046	Silent	SNP	T	TCGA-23-1032-01A-02W-0486-08	25653433	118472046	15379849	40	10151											
RPLP0	6175	broad.mit.edu	37	12	120635197	120635197	+	Silent	SNP	A	A	G	rs200799516		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr12:120635197A>G	ENST00000551150.1	-	6	1035	c.720T>C	c.(718-720)tcT>tcC	p.S240S	RPLP0_ENST00000313104.5_Silent_p.S178S|GCN1L1_ENST00000300648.6_5'Flank|RPLP0_ENST00000392514.4_Silent_p.S240S|RPLP0_ENST00000228306.4_Silent_p.S240S|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000552292.1_Silent_p.S30S|RPLP0_ENST00000546989.1_Silent_p.S204S			P05388	RLA0_HUMAN	ribosomal protein, large, P0	240					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.S240S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTTGATGATAGAATGGGGTA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	12											68	57	61					12																	120635197		2203	4297	6500	119119580	SO:0001819	synonymous_variant	6175			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.720T>C	12.37:g.120635197A>G			119119580	Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	CCDS9193.1																																																																																				0.507	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		G	120635197	A	G	120635197	2	3	178	1	0	0	0	0	0	0	0	1	13607	407	15	4		4	RPLP0	12	120635197	Silent	SNP	A	TCGA-23-1032-01A-02W-0486-08	2163151	120635197	13216698	41	10152											
MTUS2	23281	broad.mit.edu	37	13	29599284	29599284	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr13:29599284G>T	ENST00000431530.3	+	1	537	c.479G>T	c.(478-480)aGg>aTg	p.R160M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	150						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R160M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGGCTAAAAGGGATGCTGAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	13											104	106	106					13																	29599284		2038	4200	6238	28497284	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.479G>T	13.37:g.29599284G>T	ENSP00000392057:p.Arg160Met		28497284	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	12.98	2.101026	0.37048	.	.	ENSG00000132938	ENST00000431530	T	0.15017	2.46	5.22	3.07	0.35406	.	0.450854	0.19397	N	0.115275	T	0.27169	0.0666	L	0.47716	1.5	0.19300	N	0.999971	D	0.65815	0.995	P	0.60415	0.874	T	0.05022	-1.0911	9	.	.	.	.	9.0708	0.36491	0.2149:0.0:0.7851:0.0	.	150	Q5JR59	MTUS2_HUMAN	M	160	ENSP00000392057:R160M	.	R	+	2	0	MTUS2	28497284	0.755000	0.28372	0.012000	0.15200	0.048000	0.14542	1.010000	0.29898	0.351000	0.24027	0.655000	0.94253	AGG		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29599284	G	T	29599284	3	4	178	1	0	0	0	0	1	0	0	0	9966	1000	35	3	481	3	MTUS2	13	29599284	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08		29599284	85570594	42	10153											
HMGB1	3146	broad.mit.edu	37	13	31037343	31037343	+	Splice_Site	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr13:31037343C>T	ENST00000405805.1	-	3	1237		c.e3+1		HMGB1_ENST00000339872.4_Splice_Site|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399494.1_Splice_Site|HMGB1_ENST00000341423.5_Splice_Site|HMGB1_ENST00000326004.4_Splice_Site|HMGB1_ENST00000399489.1_Splice_Site			P09429	HMGB1_HUMAN	high mobility group box 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		AAGATACTCACGGAGGCCTCT	0.418																																																1	Unknown(1)	ovary(1)	13											105	120	115					13																	31037343		2203	4300	6503	29935343	SO:0001630	splice_region_variant	3146			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.296+1G>A	13.37:g.31037343C>T			29935343	A5D8W9|Q14321|Q5T7C3|Q6IBE1	Splice_Site	SNP	ENST00000405805.1	37	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388734	0.82902	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399489;ENST00000399494;ENST00000426225;ENST00000326004	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2732	0.94019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HMGB1	29935343	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.585000	0.82584	2.547000	0.85894	0.643000	0.83706	.		0.418	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128	Intron	T	31037343	C	T	31037343	5	4	178	1	0	0	0	0	0	0	1	0	7225	550	19	1	362	1	HMGB1	13	31037343	Splice_Site	SNP	C	TCGA-23-1032-01A-02W-0486-08	1438059	31037343	84132535	43	10154											
GPC5	2262	broad.mit.edu	37	13	92380859	92380859	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr13:92380859A>G	ENST00000377067.3	+	4	1466	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	365					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.E365G(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGAGCAAAGAGAAGCATGGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	13											127	132	130					13																	92380859		2203	4300	6503	91178860	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1094A>G	13.37:g.92380859A>G	ENSP00000366267:p.Glu365Gly		91178860	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207050	0.58343	.	.	ENSG00000179399	ENST00000377067	T	0.47177	0.85	5.88	4.67	0.58626	.	0.506290	0.22119	N	0.064361	T	0.43612	0.1255	L	0.53249	1.67	0.37203	D	0.904452	B	0.18310	0.027	B	0.22152	0.038	T	0.44832	-0.9302	10	0.49607	T	0.09	0.0079	10.2909	0.43594	0.853:0.0:0.0:0.147	.	365	P78333	GPC5_HUMAN	G	365	ENSP00000366267:E365G	ENSP00000366267:E365G	E	+	2	0	GPC5	91178860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.878000	0.56130	1.014000	0.39417	0.455000	0.32223	GAG		0.398	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		G	92380859	A	G	92380859	3	3	178	1	0	0	0	0	1	0	0	0	6601	304	11	4	1108	4	GPC5	13	92380859	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	61343516	92380859	22789019	44	10155											
KLHDC2	23588	broad.mit.edu	37	14	50244914	50244914	+	Silent	SNP	G	G	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr14:50244914G>A	ENST00000298307.5	+	5	1347	c.486G>A	c.(484-486)ggG>ggA	p.G162G	KLHDC2_ENST00000554589.1_Silent_p.G162G|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Silent_p.G162G	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	162						nucleus (GO:0005634)		p.G162G(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TTTTTGGAGGGTATGGATATT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	14											129	129	129					14																	50244914		2203	4300	6503	49314664	SO:0001819	synonymous_variant	23588			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.486G>A	14.37:g.50244914G>A			49314664	B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	ENST00000298307.5	37	CCDS9693.1																																																																																				0.343	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			A	50244914	G	A	50244914	2	1	178	1	0	0	0	0	0	0	0	1	8356	1248	44	2		2	KLHDC2	14	50244914	Silent	SNP	G	TCGA-23-1032-01A-02W-0486-08		50244914	57104626	45	10156											
C14orf135	64430	broad.mit.edu	37	14	60581979	60581979	+	Missense_Mutation	SNP	A	A	G	rs200309248		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr14:60581979A>G	ENST00000406854.1	+	4	1711	c.1157A>G	c.(1156-1158)aAt>aGt	p.N386S	PCNXL4_ENST00000406949.1_Missense_Mutation_p.N152S|PCNXL4_ENST00000317623.4_Missense_Mutation_p.N152S|PCNXL4_ENST00000404681.2_Missense_Mutation_p.N386S			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	386						integral component of membrane (GO:0016021)		p.N152S(1)									TCTAAAAGCAATTCCCAGGCT	0.348																																																1	Substitution - Missense(1)	ovary(1)	14						A	SER/ASN	8,3640		0,8,1816	143	137	139		455	2.7	0	14		139	0,8158		0,0,4079	yes	missense	C14orf135	NM_022495.5	46	0,8,5895	GG,GA,AA		0.0,0.2193,0.0678	benign	152/939	60581979	8,11798	1824	4079	5903	59651732	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1157A>G	14.37:g.60581979A>G	ENSP00000384801:p.Asn386Ser		59651732	A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	a	0.003	-2.478818	0.00165	0.002193	0.0	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.20200	2.1;2.09;2.1;2.09	5.51	2.68	0.31781	.	.	.	.	.	T	0.04588	0.0125	N	0.00289	-1.7	0.20403	N	0.99991	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35475	-0.9787	9	0.02654	T	1	.	11.709	0.51614	0.1967:0.0:0.8033:0.0	.	386;152	Q63HM2;B5MC47	CN135_HUMAN;.	S	152;386;152;386	ENSP00000317396:N152S;ENSP00000384801:N386S;ENSP00000385201:N152S;ENSP00000385713:N386S	ENSP00000317396:N152S	N	+	2	0	C14orf135	59651732	0.481000	0.25941	0.003000	0.11579	0.168000	0.22595	1.849000	0.39318	0.368000	0.24481	-0.400000	0.06385	AAT		0.348	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		G	60581979	A	G	60581979	3	3	178	1	0	0	0	0	1	0	0	0	1745	101	4	4	461	4	C14orf135	14	60581979	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	10337065	60581979	46767561	46	10157											
BAG5	9529	broad.mit.edu	37	14	104027422	104027422	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr14:104027422A>C	ENST00000445922.2	-	2	326	c.80T>G	c.(79-81)gTt>gGt	p.V27G	APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_Missense_Mutation_p.V27G|APOPT1_ENST00000409074.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.V68G|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	27	BAG 1. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.V27G(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GAAGCCGATAACTTGCTGTTC	0.373																																					NSCLC(171;1832 2055 18950 31566 41632)											1	Substitution - Missense(1)	ovary(1)	14											85	86	86					14																	104027422		2203	4300	6503	103097175	SO:0001583	missense	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.80T>G	14.37:g.104027422A>C	ENSP00000391713:p.Val27Gly		103097175	O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700694	0.68501	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322;ENST00000557666	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	5.61	5.61	0.85477	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.95683	0.8596	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96308	0.9226	10	0.87932	D	0	-25.0726	15.8191	0.78626	1.0:0.0:0.0:0.0	.	27;68	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	G	27;27;68;27	ENSP00000299204:V27G;ENSP00000391713:V27G;ENSP00000338814:V68G;ENSP00000450497:V27G	ENSP00000299204:V27G	V	-	2	0	BAG5	103097175	1.000000	0.71417	0.887000	0.34795	0.788000	0.44548	8.117000	0.89575	2.139000	0.66308	0.533000	0.62120	GTT		0.373	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			C	104027422	A	C	104027422	3	2	178	1	0	0	0	0	1	0	0	0	1290	43	2	5	1267	5	BAG5	14	104027422	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	43445443	104027422	3322118	47	10158											
MKRN3	7681	broad.mit.edu	37	15	23811155	23811155	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr15:23811155C>T	ENST00000314520.3	+	1	702	c.226C>T	c.(226-228)Cca>Tca	p.P76S	MKRN3_ENST00000568252.1_Missense_Mutation_p.P76S|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.P76S	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	76					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P76S(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAGGCCTGCCCCAGCCTCAGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	15											29	31	30					15																	23811155		2203	4300	6503	21362248	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.226C>T	15.37:g.23811155C>T	ENSP00000313881:p.Pro76Ser		21362248		Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	14.45	2.538627	0.45176	.	.	ENSG00000179455	ENST00000314520	T	0.30714	1.52	3.6	3.6	0.41247	.	0.685661	0.11953	N	0.513536	T	0.16385	0.0394	N	0.14661	0.345	0.09310	N	1	B;B	0.33103	0.397;0.033	B;B	0.24701	0.055;0.007	T	0.06463	-1.0825	10	0.25751	T	0.34	.	11.0336	0.47787	0.0:1.0:0.0:0.0	.	76;76	Q6NSB6;Q13064	.;MKRN3_HUMAN	S	76	ENSP00000313881:P76S	ENSP00000313881:P76S	P	+	1	0	MKRN3	21362248	0.000000	0.05858	0.010000	0.14722	0.036000	0.12997	0.744000	0.26245	2.304000	0.77564	0.467000	0.42956	CCA		0.627	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		T	23811155	C	T	23811155	3	4	178	1	0	0	0	0	1	0	0	0	9608	623	22	2	228	2	MKRN3	15	23811155	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08		23811155	78720237	48	10159											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	178	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08		7577538	73617672	49	10160											
WDR16	146845	broad.mit.edu	37	17	9536212	9536212	+	Silent	SNP	C	C	T	rs376283850		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr17:9536212C>T	ENST00000352665.5	+	10	1251	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N	WDR16_ENST00000299764.5_Silent_p.N404N|WDR16_ENST00000396219.3_Silent_p.N326N	NM_145054.4	NP_659491.4			WD repeat domain 16									p.N394N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGCATGGAACGACGGTAAAA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	17						C	,	0,4406		0,0,2203	102	86	92		978,1182	-1.5	0.5	17		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WDR16	NM_001080556.1,NM_145054.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	326/553,394/621	9536212	1,13005	2203	4300	6503	9476937	SO:0001819	synonymous_variant	146845			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1182C>T	17.37:g.9536212C>T			9476937		Silent	SNP	ENST00000352665.5	37	CCDS11149.2																																																																																				0.557	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		T	9536212	C	T	9536212	2	4	178	1	0	0	0	0	0	0	0	1	17276	535	19	1		1	WDR16	17	9536212	Silent	SNP	C	TCGA-23-1032-01A-02W-0486-08	1958674	9536212	71658998	50	10161											
SHMT1	6470	broad.mit.edu	37	17	18232093	18232093	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr17:18232093A>C	ENST00000316694.3	-	12	1557	c.1423T>G	c.(1423-1425)Ttc>Gtc	p.F475V	SHMT1_ENST00000354098.3_Missense_Mutation_p.F436V|SHMT1_ENST00000539052.1_Missense_Mutation_p.F337V|SHMT1_ENST00000352886.6_Missense_Mutation_p.F395V|RP1-178F10.3_ENST00000577764.1_lincRNA	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	475					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.F475V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	GGCAGAGGGAAGAGAGAGGCG	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											24	23	23					17																	18232093		2201	4295	6496	18172818	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1423T>G	17.37:g.18232093A>C	ENSP00000318868:p.Phe475Val		18172818	B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252492	0.80135	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.48	5.48	0.80851	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79108	0.988;0.984;0.992	T	0.80214	-0.1475	10	0.87932	D	0	-28.2211	15.8563	0.78979	1.0:0.0:0.0:0.0	.	438;436;475	A8MYA6;P34896-2;P34896	.;.;GLYC_HUMAN	V	475;250;395;337;436;438	ENSP00000318868:F475V;ENSP00000345881:F395V;ENSP00000440089:F337V;ENSP00000318805:F436V	ENSP00000318868:F475V	F	-	1	0	SHMT1	18172818	1.000000	0.71417	0.976000	0.42696	0.440000	0.31957	8.949000	0.93012	2.210000	0.71456	0.533000	0.62120	TTC		0.637	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		C	18232093	A	C	18232093	3	2	178	1	0	0	0	0	1	0	0	0	14288	72	3	5	32	5	SHMT1	17	18232093	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	8695881	18232093	62963117	51	10162											
TUBG2	27175	broad.mit.edu	37	17	40817779	40817779	+	Silent	SNP	G	G	C	rs141008194		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr17:40817779G>C	ENST00000251412.7	+	8	976	c.777G>C	c.(775-777)tcG>tcC	p.S259S	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	259					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.S259S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCATCGCCTCGCTCATTCCCA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	17											215	176	189					17																	40817779		2203	4300	6503	38071305	SO:0001819	synonymous_variant	27175			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.777G>C	17.37:g.40817779G>C			38071305	A6NDI4|Q32NB2	Silent	SNP	ENST00000251412.7	37	CCDS32658.1																																																																																				0.627	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		C	40817779	G	C	40817779	2	2	178	1	0	0	0	0	0	0	0	1	16765	1074	38	3		3	TUBG2	17	40817779	Silent	SNP	G	TCGA-23-1032-01A-02W-0486-08	22585686	40817779	40377431	52	10163											
NGFR	4804	broad.mit.edu	37	17	47590150	47590150	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr17:47590150G>T	ENST00000172229.3	+	6	1188	c.1063G>T	c.(1063-1065)Gcg>Tcg	p.A355S	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A261S	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	355	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A355S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CAACGGCTCTGCGGGGGACAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	17											52	59	57					17																	47590150		2203	4299	6502	44945149	SO:0001583	missense	4804			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1063G>T	17.37:g.47590150G>T	ENSP00000172229:p.Ala355Ser		44945149	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	2.389	-0.340277	0.05243	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.84873	-1.91;-1.91	4.37	3.28	0.37604	Death (3);DEATH-like (2);	1.060590	0.07213	N	0.859623	T	0.66287	0.2774	N	0.05441	-0.05	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.59069	-0.7523	10	0.07644	T	0.81	-23.947	3.7729	0.08649	0.1027:0.1488:0.5754:0.1731	.	355	P08138	TNR16_HUMAN	S	355;261	ENSP00000172229:A355S;ENSP00000421731:A261S	ENSP00000172229:A355S	A	+	1	0	NGFR	44945149	0.001000	0.12720	0.702000	0.30337	0.184000	0.23303	0.748000	0.26305	1.958000	0.56883	0.561000	0.74099	GCG		0.667	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			T	47590150	G	T	47590150	3	4	178	1	0	0	0	0	1	0	0	0	10396	1319	46	3	1085	3	NGFR	17	47590150	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	6772371	47590150	33605060	53	10164											
CLTC	1213	broad.mit.edu	37	17	57760368	57760368	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr17:57760368A>G	ENST00000269122.3	+	24	4140	c.3866A>G	c.(3865-3867)tAc>tGc	p.Y1289C	CLTC_ENST00000393043.1_Missense_Mutation_p.Y1289C|CLTC_ENST00000579456.1_Missense_Mutation_p.Y226C	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1289	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.Y1289C(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTTATCAACTACTATCAGGTA	0.373			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	1	Substitution - Missense(1)	ovary(1)	17											127	120	122					17																	57760368		2203	4300	6503	55115150	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3866A>G	17.37:g.57760368A>G	ENSP00000269122:p.Tyr1289Cys		55115150	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.439811	0.63067	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.20069	2.1;2.1	5.59	5.59	0.84812	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;0.975	D;P	0.91635	0.999;0.854	T	0.61267	-0.7097	10	0.52906	T	0.07	-20.0608	15.7603	0.78073	1.0:0.0:0.0:0.0	.	1289;1289	Q00610;Q00610-2	CLH1_HUMAN;.	C	1289	ENSP00000269122:Y1289C;ENSP00000376763:Y1289C	ENSP00000269122:Y1289C	Y	+	2	0	CLTC	55115150	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.339000	0.96797	2.132000	0.65825	0.379000	0.24179	TAC		0.373	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		G	57760368	A	G	57760368	3	3	178	1	0	0	0	0	1	0	0	0	3566	391	14	4	3960	4	CLTC	17	57760368	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	10170218	57760368	23434842	54	10165											
LAMA3	3909	broad.mit.edu	37	18	21329425	21329425	+	Missense_Mutation	SNP	G	G	A	rs78284895	byFrequency	TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr18:21329425G>A	ENST00000313654.9	+	4	840	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R200Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	200	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R200Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAATTTGGGCGGGAGGCAAAT	0.328													G|||	6	0.00119808	0.0038	0	5008	,	,		15812	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	18						G	GLN/ARG,GLN/ARG	12,3602		0,12,1795	62	64	63		599,599	-3.5	1	18	dbSNP_131	63	1,8147		0,1,4073	yes	missense,missense	LAMA3	NM_001127717.1,NM_198129.1	43,43	0,13,5868	AA,AG,GG		0.0123,0.332,0.1105	benign,benign	200/3278,200/3334	21329425	13,11749	1807	4074	5881	19583423	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.599G>A	18.37:g.21329425G>A	ENSP00000324532:p.Arg200Gln		19583423	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	5.933	0.356147	0.11239	0.00332	1.23E-4	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.75050	-0.9;-0.9	5.72	-3.49	0.04724	Laminin, N-terminal (3);	.	.	.	.	T	0.45296	0.1335	L	0.28014	0.82	0.80722	D	1	B;B;B	0.20261	0.043;0.009;0.007	B;B;B	0.08055	0.003;0.002;0.001	T	0.21415	-1.0246	9	0.16896	T	0.51	.	9.0176	0.36179	0.6509:0.0993:0.2498:0.0	.	200;200;200	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	Q	200	ENSP00000324532:R200Q;ENSP00000382432:R200Q	ENSP00000324532:R200Q	R	+	2	0	LAMA3	19583423	0.930000	0.31532	0.963000	0.40424	0.004000	0.04260	1.110000	0.31147	-0.367000	0.08052	-1.642000	0.00770	CGG		0.328	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21329425	G	A	21329425	3	1	178	1	0	0	0	0	1	0	0	0	8607	1116	39	1	613	1	LAMA3	18	21329425	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08		21329425	56747823	55	10166											
ILF3	3609	broad.mit.edu	37	19	10792757	10792757	+	Silent	SNP	G	G	A	rs35968299		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr19:10792757G>A	ENST00000590261.1	+	11	1269	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ILF3_ENST00000592763.1_Silent_p.Q423Q|ILF3_ENST00000588657.1_Silent_p.Q423Q|ILF3_ENST00000449870.1_Silent_p.Q423Q|ILF3_ENST00000407004.3_Silent_p.Q423Q|ILF3_ENST00000589998.1_Silent_p.Q423Q|ILF3_ENST00000250241.8_Silent_p.Q423Q|ILF3_ENST00000318511.3_Silent_p.Q423Q|ILF3_ENST00000420083.1_Silent_p.Q423Q			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	423	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q423Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGGTGTCCCAGACTGGGCCCG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	19											67	64	65					19																	10792757		2203	4300	6503	10653757	SO:0001819	synonymous_variant	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1269G>A	19.37:g.10792757G>A			10653757	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																				0.582	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			A	10792757	G	A	10792757	2	1	178	1	0	0	0	0	0	0	0	1	7712	933	33	2		2	ILF3	19	10792757	Silent	SNP	G	TCGA-23-1032-01A-02W-0486-08		10792757	48336226	56	10167											
IL28A	282616	broad.mit.edu	37	19	39759799	39759799	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr19:39759799C>G	ENST00000331982.5	+	3	255	c.200C>G	c.(199-201)tCg>tGg	p.S67W		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	67					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.S67W(1)									TAGGAAGAGTCGCTTCTGCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											34	35	35					19																	39759799		2202	4299	6501	44451639	SO:0001583	missense	282616			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.200C>G	19.37:g.39759799C>G	ENSP00000333639:p.Ser67Trp		44451639	Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	ENST00000331982.5	37	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	c	10.75	1.439561	0.25900	.	.	ENSG00000183709	ENST00000331982	T	0.34859	1.34	3.13	-2.37	0.06643	.	1.660860	0.03362	N	0.197765	T	0.55768	0.1941	M	0.81341	2.54	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48779	-0.9005	10	0.72032	D	0.01	2.0703	0.7117	0.00925	0.181:0.3804:0.1924:0.2461	.	67	Q8IZJ0	IL28A_HUMAN	W	67	ENSP00000333639:S67W	ENSP00000333639:S67W	S	+	2	0	IL28A	44451639	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.088000	0.11198	-0.437000	0.07243	-1.906000	0.00525	TCG		0.622	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		G	39759799	C	G	39759799	3	3	178	1	0	0	0	0	1	0	0	0	7682	893	31	3	210	3	IL28A	19	39759799	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08	28967042	39759799	19369184	57	10168											
GRWD1	83743	broad.mit.edu	37	19	48956277	48956277	+	Missense_Mutation	SNP	G	G	A	rs371830640		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr19:48956277G>A	ENST00000253237.5	+	7	1569	c.1336G>A	c.(1336-1338)Gtc>Atc	p.V446I	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	446						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V446I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CACCATCAGCGTCTGAGGCGT	0.607																																																1	Substitution - Missense(1)	ovary(1)	19						G	ILE/VAL	1,4405		0,1,2202	32	35	34		1336	4.9	1	19		34	0,8576		0,0,4288	no	missense	GRWD1	NM_031485.3	29	0,1,6490	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	446/447	48956277	1,12981	2203	4288	6491	53648089	SO:0001583	missense	83743			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1336G>A	19.37:g.48956277G>A	ENSP00000253237:p.Val446Ile		53648089	Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823963	0.71143	2.27E-4	0.0	ENSG00000105447	ENST00000253237	T	0.71698	-0.59	4.93	4.93	0.64822	.	0.070670	0.56097	D	0.000036	T	0.71005	0.3289	L	0.52011	1.625	0.80722	D	1	P	0.51351	0.944	P	0.47744	0.556	T	0.69269	-0.5189	10	0.28530	T	0.3	.	17.3051	0.87192	0.0:0.0:1.0:0.0	.	446	Q9BQ67	GRWD1_HUMAN	I	446	ENSP00000253237:V446I	ENSP00000253237:V446I	V	+	1	0	GRWD1	53648089	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	6.445000	0.73456	2.449000	0.82847	0.561000	0.74099	GTC		0.607	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		A	48956277	G	A	48956277	3	1	178	1	0	0	0	0	1	0	0	0	6811	1145	40	1	1362	1	GRWD1	19	48956277	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	9196478	48956277	10172706	58	10169											
ATRN	8455	broad.mit.edu	37	20	3578566	3578566	+	Silent	SNP	T	T	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr20:3578566T>A	ENST00000262919.5	+	22	3551	c.3483T>A	c.(3481-3483)atT>atA	p.I1161I	ATRN_ENST00000446916.2_Silent_p.I1161I	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1161					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.I1161I(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTCTTCTTATTGACTATCAGT	0.333																																																1	Substitution - coding silent(1)	ovary(1)	20											157	150	152					20																	3578566		2203	4300	6503	3526566	SO:0001819	synonymous_variant	8455			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3483T>A	20.37:g.3578566T>A			3526566	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	CCDS13053.1																																																																																				0.333	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		A	3578566	T	A	3578566	2	1	178	1	0	0	0	0	0	0	0	1	1206	1800	63	5		5	ATRN	20	3578566	Silent	SNP	T	TCGA-23-1032-01A-02W-0486-08		3578566	59446954	59	10170											
TTLL9	164395	broad.mit.edu	37	20	30530752	30530752	+	Silent	SNP	C	C	T	rs376499277		TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr20:30530752C>T	ENST00000375938.4	+	15	1501	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C	TTLL9_ENST00000535842.1_Silent_p.C416C|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375922.4_Missense_Mutation_p.R317C			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	416					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.C416C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCCAGGCTGCGTCAACGATC	0.577																																																1	Substitution - coding silent(1)	ovary(1)	20						T		0,3956		0,0,1978	182	186	185		1248	-7.3	0	20		185	1,8305		0,1,4152	no	coding-synonymous	TTLL9	NM_001008409.2		0,1,6130	TT,TC,CC		0.012,0.0,0.0082		416/440	30530752	1,12261	1978	4153	6131	29994413	SO:0001819	synonymous_variant	164395			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1248C>T	20.37:g.30530752C>T			29994413	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	c	13.36	2.214692	0.39102	0.0	1.2E-4	ENSG00000131044	ENST00000375922	T	0.03982	3.74	5.91	-7.28	0.01456	.	.	.	.	.	T	0.11239	0.0274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08743	-1.0707	6	0.51188	T	0.08	.	16.112	0.81271	0.0:0.3094:0.0:0.6906	.	.	.	.	C	317	ENSP00000365088:R317C	ENSP00000365088:R317C	R	+	1	0	TTLL9	29994413	0.074000	0.21230	0.001000	0.08648	0.391000	0.30476	-0.498000	0.06420	-1.961000	0.01016	-1.082000	0.02213	CGT		0.577	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		T	30530752	C	T	30530752	2	4	178	1	0	0	0	0	0	0	0	1	16734	776	27	1		1	TTLL9	20	30530752	Silent	SNP	C	TCGA-23-1032-01A-02W-0486-08	26952186	30530752	32494768	60	10171											
CDH4	1002	broad.mit.edu	37	20	60419727	60419727	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr20:60419727C>T	ENST00000360469.5	+	5	668	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	CDH4_ENST00000543233.1_Missense_Mutation_p.R120W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	194	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R194W(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTTTCAGATCCGGTCCGACAA	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											87	78	81					20																	60419727		2203	4300	6503	59853122	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.580C>T	20.37:g.60419727C>T	ENSP00000353656:p.Arg194Trp		59853122	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263355	0.59431	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.70164	-0.46;-0.46	3.68	2.67	0.31697	Cadherin (4);Cadherin-like (1);	0.061344	0.64402	D	0.000003	T	0.82070	0.4957	M	0.87971	2.92	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.83301	-0.0028	9	.	.	.	.	12.1497	0.54044	0.173:0.827:0.0:0.0	.	194	P55283	CADH4_HUMAN	W	194;102;120	ENSP00000353656:R194W;ENSP00000443301:R120W	.	R	+	1	2	CDH4	59853122	1.000000	0.71417	0.998000	0.56505	0.596000	0.36781	2.832000	0.48152	0.585000	0.29608	0.313000	0.20887	CGG		0.587	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60419727	C	T	60419727	3	4	178	1	0	0	0	0	1	0	0	0	3112	643	23	1	598	1	CDH4	20	60419727	Missense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08	29888975	60419727	2605793	61	10172											
CLDN17	26285	broad.mit.edu	37	21	31538436	31538436	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr21:31538436A>C	ENST00000286808.3	-	1	535	c.500T>G	c.(499-501)cTt>cGt	p.L167R		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	167					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L167R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGCCCAGCCAAGGAAAAGTGC	0.507																																																1	Substitution - Missense(1)	ovary(1)	21											76	73	74					21																	31538436		2203	4300	6503	30460307	SO:0001583	missense	26285			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"Claudins"	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.500T>G	21.37:g.31538436A>C	ENSP00000286808:p.Leu167Arg		30460307	Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551528	0.65311	.	.	ENSG00000156282	ENST00000286808	D	0.92199	-2.99	4.63	4.63	0.57726	.	0.134719	0.49305	D	0.000143	D	0.96156	0.8747	M	0.87971	2.92	0.42438	D	0.992701	D	0.54397	0.966	D	0.68483	0.958	D	0.96986	0.9718	10	0.87932	D	0	.	14.7649	0.69632	1.0:0.0:0.0:0.0	.	167	P56750	CLD17_HUMAN	R	167	ENSP00000286808:L167R	ENSP00000286808:L167R	L	-	2	0	CLDN17	30460307	0.964000	0.33143	0.329000	0.25429	0.702000	0.40608	8.986000	0.93492	2.311000	0.77944	0.533000	0.62120	CTT		0.507	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		C	31538436	A	C	31538436	3	2	178	1	0	0	0	0	1	0	0	0	3478	72	3	5	178	5	CLDN17	21	31538436	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08		31538436	16591459	62	10173											
DEPDC5	9681	broad.mit.edu	37	22	32162610	32162610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr22:32162610C>T	ENST00000382112.3	+	5	389	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000400242.3_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000536766.1_Intron	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	107					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.Q107*(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTTTAAGGATCAGTATATTGG	0.353																																																1	Substitution - Nonsense(1)	ovary(1)	22											196	205	202					22																	32162610		2155	4273	6428	30492610	SO:0001587	stop_gained	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.319C>T	22.37:g.32162610C>T	ENSP00000371546:p.Gln107*		30492610	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633922	0.96682	.	.	ENSG00000100150	ENST00000535622;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.42	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9192	0.63921	0.0:0.8466:0.1534:0.0	.	.	.	.	X	107	.	ENSP00000266091:Q107X	Q	+	1	0	DEPDC5	30492610	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	7.058000	0.76676	1.266000	0.44231	0.655000	0.94253	CAG		0.353	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		T	32162610	C	T	32162610	4	4	178	1	0	0	0	0	0	1	0	0	4442	827	29	2	337	2	DEPDC5	22	32162610	Nonsense_Mutation	SNP	C	TCGA-23-1032-01A-02W-0486-08		32162610	19141956	63	10174											
EFCAB6	64800	broad.mit.edu	37	22	44011710	44011710	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chr22:44011710G>C	ENST00000262726.7	-	21	2811	c.2558C>G	c.(2557-2559)tCt>tGt	p.S853C	EFCAB6_ENST00000396231.2_Missense_Mutation_p.S701C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	853	EF-hand 9. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S853C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTTACCTTAGACAAGTCTGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	22											89	82	85					22																	44011710		2203	4300	6503	42343043	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2558C>G	22.37:g.44011710G>C	ENSP00000262726:p.Ser853Cys		42343043	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049482	0.55218	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08008	3.14;3.14	4.87	3.85	0.44370	EF-hand-like domain (1);	0.083632	0.48767	D	0.000161	T	0.13798	0.0334	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.04635	-1.0937	10	0.56958	D	0.05	-19.5382	10.0154	0.42011	0.1619:0.0:0.8381:0.0	.	853	Q5THR3	EFCB6_HUMAN	C	701;853	ENSP00000379533:S701C;ENSP00000262726:S853C	ENSP00000262726:S853C	S	-	2	0	EFCAB6	42343043	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.385000	0.59613	1.414000	0.47017	0.655000	0.94253	TCT		0.373	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		C	44011710	G	C	44011710	3	2	178	1	0	0	0	0	1	0	0	0	4939	942	33	3	1995	3	EFCAB6	22	44011710	Missense_Mutation	SNP	G	TCGA-23-1032-01A-02W-0486-08	11849100	44011710	7292856	64	10175											
CDKL5	6792	broad.mit.edu	37	X	18668702	18668702	+	Silent	SNP	C	C	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chrX:18668702C>A	ENST00000379989.3	+	21	3255	c.2970C>A	c.(2968-2970)acC>acA	p.T990T	CDKL5_ENST00000379996.3_Silent_p.T990T|RS1_ENST00000476595.1_5'Flank|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	990					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.T990T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCTGCCCAACCCAGCAATCCG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	X											89	73	79					X																	18668702		2203	4300	6503	18578623	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2970C>A	X.37:g.18668702C>A			18578623	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	CCDS14186.1																																																																																				0.587	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		A	18668702	C	A	18668702	2	1	178	1	0	0	0	0	0	0	0	1	3157	610	22	3		3	CDKL5	23	18668702	Silent	SNP	C	TCGA-23-1032-01A-02W-0486-08		18668702	136601858	65	10176											
BMP15	9210	broad.mit.edu	37	X	50659057	50659057	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chrX:50659057A>T	ENST00000252677.3	+	2	629	c.629A>T	c.(628-630)cAg>cTg	p.Q210L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	210					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.Q210L(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TTTATGTGTCAGCAGCAAAAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											146	116	126					X																	50659057		2203	4299	6502	50675797	SO:0001583	missense	9210			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.629A>T	X.37:g.50659057A>T	ENSP00000252677:p.Gln210Leu		50675797	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	a	6.659	0.490064	0.12702	.	.	ENSG00000130385	ENST00000252677	T	0.78595	-1.19	5.52	4.37	0.52481	.	0.658526	0.16461	N	0.213438	T	0.70474	0.3228	M	0.69823	2.125	0.22996	N	0.998456	P	0.35383	0.498	B	0.30401	0.115	T	0.61088	-0.7133	10	0.27082	T	0.32	.	6.4618	0.21960	0.8927:0.0:0.1073:0.0	.	210	O95972	BMP15_HUMAN	L	210	ENSP00000252677:Q210L	ENSP00000252677:Q210L	Q	+	2	0	BMP15	50675797	0.030000	0.19436	0.812000	0.32479	0.010000	0.07245	0.714000	0.25808	1.854000	0.53819	0.451000	0.29950	CAG		0.418	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		T	50659057	A	T	50659057	3	4	178	1	0	0	0	0	1	0	0	0	1458	188	7	5	635	5	BMP15	23	50659057	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	31990355	50659057	104611503	66	10177											
MTMR8	55613	broad.mit.edu	37	X	63574698	63574698	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chrX:63574698T>A	ENST00000374852.3	-	4	494	c.427A>T	c.(427-429)Aac>Tac	p.N143Y	MTMR8_ENST00000453546.1_Missense_Mutation_p.N143Y	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	143	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.N143Y(1)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CAGTTTCTGTTGGGTATTCCC	0.378																																																2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(2)	X											155	124	134					X																	63574698		2203	4300	6503	63491423	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.427A>T	X.37:g.63574698T>A	ENSP00000363985:p.Asn143Tyr		63491423	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.350|7.350	0.622724|0.622724	0.14193|0.14193	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	D;D|.	0.93366|.	-3.21;-3.21|.	2.67|2.67	2.67|2.67	0.31697|0.31697	Myotubularin phosphatase domain (1);|.	0.000000|.	0.52532|.	U|.	0.000071|.	T|T	0.73644|0.73644	0.3613|0.3613	H|H	0.94183|0.94183	3.505|3.505	0.09310|0.09310	N|N	0.999997|0.999997	D;D|.	0.89917|.	0.988;1.0|.	P;D|.	0.69307|.	0.484;0.963|.	T|T	0.64879|0.64879	-0.6303|-0.6303	10|5	0.28530|.	T|.	0.3|.	.|.	9.6324|9.6324	0.39787|0.39787	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	143;143|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	Y|L	143;143;142|59	ENSP00000394003:N143Y;ENSP00000363985:N143Y|.	ENSP00000247400:N142Y|.	N|Q	-|-	1|2	0|0	MTMR8|MTMR8	63491423|63491423	0.994000|0.994000	0.37717|0.37717	0.276000|0.276000	0.24689|0.24689	0.792000|0.792000	0.44763|0.44763	3.641000|3.641000	0.54360|0.54360	1.309000|1.309000	0.44985|0.44985	0.412000|0.412000	0.27726|0.27726	AAC|CAA		0.378	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		A	63574698	T	A	63574698	3	1	178	1	0	0	0	0	1	0	0	0	9949	1812	63	5	1731	5	MTMR8	23	63574698	Missense_Mutation	SNP	T	TCGA-23-1032-01A-02W-0486-08	12915641	63574698	91695862	67	10178											
DACH2	117154	broad.mit.edu	37	X	86069730	86069730	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chrX:86069730A>T	ENST00000373125.4	+	10	1577	c.1577A>T	c.(1576-1578)aAg>aTg	p.K526M	DACH2_ENST00000373131.1_Missense_Mutation_p.K513M|DACH2_ENST00000510272.1_Missense_Mutation_p.K307M|DACH2_ENST00000508860.1_Missense_Mutation_p.K359M	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	526	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K526M(1)|p.K513M(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AAAAAAACCAAGAGAAAATTG	0.448																																																2	Substitution - Missense(2)	ovary(2)	X											60	57	58					X																	86069730		2203	4300	6503	85956386	SO:0001583	missense	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1577A>T	X.37:g.86069730A>T	ENSP00000362217:p.Lys526Met		85956386	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.404069	0.62288	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.86956	-2.15;-2.19	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000002	D	0.92136	0.7507	M	0.69358	2.11	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	D	0.92864	0.6308	10	0.87932	D	0	.	13.4743	0.61299	1.0:0.0:0.0:0.0	.	392;526;513;526	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	M	526;513;526;359;307;359;191	ENSP00000362223:K513M;ENSP00000362217:K526M	ENSP00000345134:K526M	K	+	2	0	DACH2	85956386	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	8.793000	0.91862	1.553000	0.49476	0.339000	0.21740	AAG		0.448	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		T	86069730	A	T	86069730	3	4	178	1	0	0	0	0	1	0	0	0	4221	72	3	5	1615	5	DACH2	23	86069730	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	22495032	86069730	69200830	68	10179											
DIAPH2	1730	broad.mit.edu	37	X	96502831	96502831	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1032-01A-02W-0486-08	TCGA-23-1032-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6771005e-67f4-4908-a7af-db2eefaebb0d	d874acfb-68ac-4c23-94be-3ccff76e99cd	g.chrX:96502831A>T	ENST00000324765.8	+	23	3184	c.2837A>T	c.(2836-2838)aAg>aTg	p.K946M	DIAPH2_ENST00000373054.4_Missense_Mutation_p.K942M|DIAPH2_ENST00000355827.4_Missense_Mutation_p.K946M|DIAPH2_ENST00000373049.4_Missense_Mutation_p.K946M|DIAPH2_ENST00000373061.3_Missense_Mutation_p.K946M			O60879	DIAP2_HUMAN	diaphanous-related formin 2	946	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.K946M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTTGTGGAAAAGATGACCATA	0.348																																																1	Substitution - Missense(1)	ovary(1)	X											135	114	121					X																	96502831		2203	4300	6503	96389487	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2837A>T	X.37:g.96502831A>T	ENSP00000321348:p.Lys946Met		96389487	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734556	0.69189	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	5.66	5.66	0.87406	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.183014	0.32802	U	0.005633	T	0.54127	0.1839	M	0.90252	3.1	0.53688	D	0.999971	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	T	0.62105	-0.6924	10	0.48119	T	0.1	.	15.0903	0.72188	1.0:0.0:0.0:0.0	.	946;946	O60879;O60879-2	DIAP2_HUMAN;.	M	946;942;946;946;946;953	ENSP00000362152:K946M;ENSP00000362145:K942M;ENSP00000348082:K946M;ENSP00000362140:K946M;ENSP00000321348:K946M	ENSP00000321348:K946M	K	+	2	0	DIAPH2	96389487	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.560000	0.90712	2.014000	0.59158	0.481000	0.45027	AAG		0.348	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		T	96502831	A	T	96502831	3	4	178	1	0	0	0	0	1	0	0	0	4519	72	3	5	2927	5	DIAPH2	23	96502831	Missense_Mutation	SNP	A	TCGA-23-1032-01A-02W-0486-08	10433101	96502831	58767729	69	10180											
FOXP1	27086	hgsc.bcm.edu	37	3	71037144	71037144	+	Splice_Site	SNP	C	C	T			TCGA-23-1107-01A-01W-0484-10	TCGA-23-1107-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8220c5da-a8ee-41ae-b75b-1ccc837c0f94	3ee463be-f238-47f7-8682-63eace5d2a88	g.chr3:71037144C>T	ENST00000318789.4	-	14	1672		c.e14+1		FOXP1_ENST00000484350.1_Splice_Site|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000493089.1_Splice_Site|FOXP1_ENST00000468577.1_Splice_Site|FOXP1_ENST00000475937.1_Splice_Site|FOXP1_ENST00000491238.1_Splice_Site	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCAATACTTACGGGCTGAGGG	0.488			T	PAX5	ALL																																		Dom	yes		3	3p14.1	27086	forkhead box P1		L	1	Unknown(1)	ovary(1)	3											185	197	193					3																	71037144		2203	4300	6503	71119834	SO:0001630	splice_region_variant	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1146+1G>A	3.37:g.71037144C>T			71119834	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Splice_Site	SNP	ENST00000318789.4	37	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020962	0.75275	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6051	0.95577	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXP1	71119834	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.487000	0.81328	2.636000	0.89361	0.655000	0.94253	.		0.488	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	Intron	T	71037144	C	T	71037144	5	4	179	1	0	0	0	0	0	0	1	0	6026	550	19	1	918	1	FOXP1	3	71037144	Splice_Site	SNP	C	TCGA-23-1107-01A-01W-0484-10		71037144	126985286	1	10181											
LPHN3	23284	hgsc.bcm.edu	37	4	62800670	62800670	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1107-01A-01W-0484-10	TCGA-23-1107-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8220c5da-a8ee-41ae-b75b-1ccc837c0f94	3ee463be-f238-47f7-8682-63eace5d2a88	g.chr4:62800670A>T	ENST00000514591.1	+	13	2350	c.2021A>T	c.(2020-2022)gAg>gTg	p.E674V	LPHN3_ENST00000512091.2_Missense_Mutation_p.E674V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000507164.1_Missense_Mutation_p.E742V|LPHN3_ENST00000506720.1_Missense_Mutation_p.E742V|LPHN3_ENST00000514996.1_Missense_Mutation_p.E674V|LPHN3_ENST00000509896.1_Missense_Mutation_p.E742V|LPHN3_ENST00000506746.1_Missense_Mutation_p.E742V|LPHN3_ENST00000514157.1_Missense_Mutation_p.E674V|LPHN3_ENST00000511324.1_Missense_Mutation_p.E742V|LPHN3_ENST00000545650.1_Missense_Mutation_p.E674V|LPHN3_ENST00000508946.1_Missense_Mutation_p.E674V|LPHN3_ENST00000504896.1_Missense_Mutation_p.E674V|LPHN3_ENST00000508693.1_Missense_Mutation_p.E742V|LPHN3_ENST00000507625.1_Missense_Mutation_p.E742V|LPHN3_ENST00000506700.1_Missense_Mutation_p.E674V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	661					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CATACTGTGGAGGAAAGTGCT	0.458																																																0			4											115	118	117					4																	62800670		2071	4207	6278	62483265	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2021A>T	4.37:g.62800670A>T	ENSP00000422533:p.Glu674Val		62483265	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383786	0.82792	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.43	5.43	0.79202	Domain of unknown function DUF3497 (1);	0.122957	0.64402	D	0.000011	T	0.59487	0.2197	M	0.70595	2.14	0.80722	D	1	D;D;D	0.58268	0.982;0.982;0.977	P;P;P	0.57620	0.824;0.824;0.787	T	0.64394	-0.6418	10	0.87932	D	0	.	15.65	0.77084	1.0:0.0:0.0:0.0	.	674;661;674	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	V	674;674;742;742;674;661;674;661;674;742;742;742;674;674;674;742;742;674	ENSP00000423388:E674V;ENSP00000422533:E674V;ENSP00000423787:E742V;ENSP00000425033:E742V;ENSP00000424120:E674V;ENSP00000439831:E674V;ENSP00000421476:E742V;ENSP00000424030:E742V;ENSP00000421372:E742V;ENSP00000425201:E674V;ENSP00000423434:E674V;ENSP00000421627:E674V;ENSP00000420931:E742V;ENSP00000425884:E742V;ENSP00000424258:E674V	ENSP00000280009:E674V	E	+	2	0	LPHN3	62483265	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.139000	0.94554	2.281000	0.76405	0.528000	0.53228	GAG		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			T	62800670	A	T	62800670	3	4	179	1	0	0	0	0	1	0	0	0	8917	304	11	5	2063	5	LPHN3	4	62800670	Missense_Mutation	SNP	A	TCGA-23-1107-01A-01W-0484-10		62800670	128353606	2	10182											
PPAP2A	8611	hgsc.bcm.edu	37	5	54763901	54763901	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1107-01A-01W-0484-10	TCGA-23-1107-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8220c5da-a8ee-41ae-b75b-1ccc837c0f94	3ee463be-f238-47f7-8682-63eace5d2a88	g.chr5:54763901G>A	ENST00000307259.8	-	3	707	c.287C>T	c.(286-288)gCc>gTc	p.A96V	PPAP2A_ENST00000515132.1_5'UTR|PPAP2A_ENST00000264775.5_Missense_Mutation_p.A97V	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	96					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.A97V(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GTAAATAGTGGCTATGTAGTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	5											105	108	107					5																	54763901		2203	4300	6503	54799658	SO:0001583	missense	8611			AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.287C>T	5.37:g.54763901G>A	ENSP00000302229:p.Ala96Val		54799658	B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182006	0.78677	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.30714	1.53;1.52	5.73	5.73	0.89815	.	0.094057	0.64402	D	0.000001	T	0.41373	0.1156	M	0.66297	2.02	0.58432	D	0.999999	P;B	0.35714	0.517;0.343	B;B	0.40506	0.285;0.331	T	0.09662	-1.0664	10	0.30854	T	0.27	-7.0087	20.315	0.98648	0.0:0.0:1.0:0.0	.	96;97	O14494;G3XA95	LPP1_HUMAN;.	V	97;96	ENSP00000264775:A97V;ENSP00000302229:A96V	ENSP00000264775:A97V	A	-	2	0	PPAP2A	54799658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	2.881000	0.98747	0.573000	0.79308	GCC		0.393	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			A	54763901	G	A	54763901	3	1	179	1	0	0	0	0	1	0	0	0	12290	1203	42	2	583	2	PPAP2A	5	54763901	Missense_Mutation	SNP	G	TCGA-23-1107-01A-01W-0484-10		54763901	126151359	3	10183											
DAXX	1616	hgsc.bcm.edu	37	6	33289560	33289560	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1107-01A-01W-0484-10	TCGA-23-1107-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8220c5da-a8ee-41ae-b75b-1ccc837c0f94	3ee463be-f238-47f7-8682-63eace5d2a88	g.chr6:33289560C>G	ENST00000374542.5	-	2	347	c.143G>C	c.(142-144)aGa>aCa	p.R48T	DAXX_ENST00000266000.6_Missense_Mutation_p.R48T|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	48	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R48T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ACTGCTTCCTCTGGCCCCATG	0.592			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	1	Substitution - Missense(1)	ovary(1)	6											183	189	187					6																	33289560		2203	4300	6503	33397538	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.143G>C	6.37:g.33289560C>G	ENSP00000363668:p.Arg48Thr		33397538	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	5.800	0.331899	0.10956	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407;ENST00000446511	.	.	.	5.01	1.22	0.21188	.	0.599767	0.17544	N	0.170417	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.18871	0.023;0.023	T	0.35176	-0.9799	9	0.41790	T	0.15	-0.3436	3.8266	0.08856	0.1672:0.5605:0.0:0.2723	.	60;48	B4E1C1;Q9UER7	.;DAXX_HUMAN	T	48	.	ENSP00000266000:R48T	R	-	2	0	DAXX	33397538	0.000000	0.05858	0.085000	0.20634	0.416000	0.31233	0.124000	0.15728	0.034000	0.15491	0.549000	0.68633	AGA		0.592	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			G	33289560	C	G	33289560	3	3	179	1	0	0	0	0	1	0	0	0	4243	913	32	3	2107	3	DAXX	6	33289560	Missense_Mutation	SNP	C	TCGA-23-1107-01A-01W-0484-10		33289560	137825507	4	10184											
CACNA2D1	781	hgsc.bcm.edu	37	7	81667455	81667455	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1107-01A-01W-0484-10	TCGA-23-1107-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8220c5da-a8ee-41ae-b75b-1ccc837c0f94	3ee463be-f238-47f7-8682-63eace5d2a88	g.chr7:81667455T>C	ENST00000356253.5	-	11	1231	c.976A>G	c.(976-978)Aca>Gca	p.T326A	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.T326A			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	326	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T326A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	cctttggctGTGATATTATTC	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											160	157	158					7																	81667455		2202	4300	6502	81505391	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.976A>G	7.37:g.81667455T>C	ENSP00000348589:p.Thr326Ala		81505391	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	T	11.24	1.581776	0.28180	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.82984	-1.67;-1.67	6.07	6.07	0.98685	.	0.052459	0.85682	D	0.000000	T	0.74869	0.3773	L	0.55481	1.735	0.80722	D	1	B	0.14438	0.01	B	0.16289	0.015	T	0.65331	-0.6194	10	0.06891	T	0.86	-19.9245	8.6003	0.33740	0.133:0.0:0.1241:0.7429	.	326	P54289-2	.	A	326	ENSP00000349320:T326A;ENSP00000348589:T326A	ENSP00000284088:T326A	T	-	1	0	CACNA2D1	81505391	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.507000	0.35758	2.330000	0.79161	0.477000	0.44152	ACA		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				C	81667455	T	C	81667455	3	2	179	1	0	0	0	0	1	0	0	0	2548	1696	59	4	2415	4	CACNA2D1	7	81667455	Missense_Mutation	SNP	T	TCGA-23-1107-01A-01W-0484-10		81667455	77471208	5	10185											
TP53	7157	hgsc.bcm.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A			TCGA-23-1107-01A-01W-0484-10	TCGA-23-1107-10A-01W-0484-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8220c5da-a8ee-41ae-b75b-1ccc837c0f94	3ee463be-f238-47f7-8682-63eace5d2a88	g.chr17:7579311C>A	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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"	38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	17	GRCh37	CS951538	TP53	S							66	61	63					17																	7579311		2203	4300	6503	7520036	SO:0001630	splice_region_variant	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.375+1G>T	17.37:g.7579311C>A			7520036	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954926	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7579311	C	A	7579311	5	1	179	1	0	0	0	0	0	0	1	0	16381	521	18	3	926	3	TP53	17	7579311	Splice_Site	SNP	C	TCGA-23-1107-01A-01W-0484-10		7579311	73615899	6	10186											
LAMA1	284217	hgsc.bcm.edu	37	18	6965295	6965295	+	Missense_Mutation	SNP	C	C	T	rs200776408		TCGA-23-1107-01A-01W-0484-10	TCGA-23-1107-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8220c5da-a8ee-41ae-b75b-1ccc837c0f94	3ee463be-f238-47f7-8682-63eace5d2a88	g.chr18:6965295C>T	ENST00000389658.3	-	50	7280	c.7187G>A	c.(7186-7188)cGg>cAg	p.R2396Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2396	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R2396Q(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCTTGCTTCCGGTTTCGCTG	0.433													C|||	1	0.000199681	0	0	5008	,	,		19387	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	18						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	133	125	128		7187	4.4	1	18		128	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LAMA1	NM_005559.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	2396/3076	6965295	2,13004	2203	4300	6503	6955295	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7187G>A	18.37:g.6965295C>T	ENSP00000374309:p.Arg2396Gln		6955295		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901954	0.33535	2.27E-4	1.16E-4	ENSG00000101680	ENST00000389658	T	0.74947	-0.89	6.17	4.39	0.52855	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.200360	0.40908	D	0.000993	T	0.59059	0.2166	N	0.16098	0.37	0.29713	N	0.839229	D	0.54601	0.967	P	0.47705	0.555	T	0.55010	-0.8207	10	0.11182	T	0.66	.	10.3221	0.43773	0.0:0.7663:0.0:0.2337	.	2396	P25391	LAMA1_HUMAN	Q	2396	ENSP00000374309:R2396Q	ENSP00000374309:R2396Q	R	-	2	0	LAMA1	6955295	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.233000	0.32648	1.634000	0.50500	0.655000	0.94253	CGG		0.433	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6965295	C	T	6965295	3	4	179	1	0	0	0	0	1	0	0	0	8605	652	23	1	2096	1	LAMA1	18	6965295	Missense_Mutation	SNP	C	TCGA-23-1107-01A-01W-0484-10		6965295	71111953	7	10187											
ELAVL4	1996	hgsc.bcm.edu	37	1	50666792	50666792	+	Missense_Mutation	SNP	G	G	A	rs377132231		TCGA-23-1109-01A-01W-0484-10	TCGA-23-1109-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	5afcf837-a7d9-4b97-b4c7-a0f2652f5200	4bbc6ec2-2d1c-4fef-a40a-e90d608c4673	g.chr1:50666792G>A	ENST00000371823.4	+	7	1309	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	ELAVL4_ENST00000371827.1_Missense_Mutation_p.R348H|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R351H|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R353H|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R367H|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R365H|ELAVL4_ENST00000371824.1_Missense_Mutation_p.R348H	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	362	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R362H(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AACGGGTACCGCCTGGGAGAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	1						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	51	48	49		1043,1094,1043,1052,1085	6.1	1	1		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ELAVL4	NM_001144774.1,NM_001144775.1,NM_001144776.1,NM_001144777.1,NM_021952.3	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	348/367,365/384,348/367,351/370,362/381	50666792	1,13005	2203	4300	6503	50439379	SO:0001583	missense	1996			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.1085G>A	1.37:g.50666792G>A	ENSP00000360888:p.Arg362His		50439379	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922027	0.73213	0.0	1.16E-4	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	N	0.21142	0.635	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.993;0.997;0.996;0.992;0.997	P;P;P;P;P;D	0.63957	0.841;0.753;0.895;0.753;0.753;0.92	T	0.00920	-1.1514	10	0.44086	T	0.13	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	353;348;362;365;348;351	B1APY9;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;ELAV4_HUMAN;.;.;.	H	351;348;365;348;362;367;353	ENSP00000399939:R351H;ENSP00000360892:R348H;ENSP00000349594:R365H;ENSP00000360889:R348H;ENSP00000360888:R362H;ENSP00000360886:R367H;ENSP00000360884:R353H	ENSP00000349594:R365H	R	+	2	0	ELAVL4	50439379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.885000	0.99019	0.655000	0.94253	CGC		0.443	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		A	50666792	G	A	50666792	3	1	180	1	0	0	0	0	1	0	0	0	5052	1087	38	1	1210	1	ELAVL4	1	50666792	Missense_Mutation	SNP	G	TCGA-23-1109-01A-01W-0484-10		50666792	198583829	1	10188											
EPHA3	2042	hgsc.bcm.edu	37	3	89448466	89448466	+	Splice_Site	SNP	A	A	G			TCGA-23-1109-01A-01W-0484-10	TCGA-23-1109-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	5afcf837-a7d9-4b97-b4c7-a0f2652f5200	4bbc6ec2-2d1c-4fef-a40a-e90d608c4673	g.chr3:89448466A>G	ENST00000336596.2	+	7	1656		c.e7-1		EPHA3_ENST00000494014.1_Splice_Site|EPHA3_ENST00000452448.2_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.?(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGACCTCAAAGCAGGAACAA	0.338										TSP Lung(6;0.00050)																																						1	Unknown(1)	ovary(1)	3											64	66	65					3																	89448466		2203	4300	6503	89531156	SO:0001630	splice_region_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1432-1A>G	3.37:g.89448466A>G			89531156	Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.510330	0.85389	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.602	0.76631	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA3	89531156	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.082000	0.62665	0.460000	0.39030	.		0.338	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Intron	G	89448466	A	G	89448466	5	3	180	1	0	0	0	0	0	0	1	0	5168	86	3	4	1456	4	EPHA3	3	89448466	Splice_Site	SNP	A	TCGA-23-1109-01A-01W-0484-10		89448466	108573964	2	10189											
COL17A1	1308	hgsc.bcm.edu	37	10	105800875	105800875	+	Splice_Site	SNP	C	C	T			TCGA-23-1109-01A-01W-0484-10	TCGA-23-1109-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	5afcf837-a7d9-4b97-b4c7-a0f2652f5200	4bbc6ec2-2d1c-4fef-a40a-e90d608c4673	g.chr10:105800875C>T	ENST00000353479.5	-	39	2939	c.2649G>A	c.(2647-2649)ggG>ggA	p.G883G	COL17A1_ENST00000369733.3_Splice_Site_p.G883G	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	883	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G883G(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCAAACCCTCCCCTAGGAAAG	0.572																																																1	Substitution - coding silent(1)	ovary(1)	10											97	99	99					10																	105800875		2203	4300	6503	105790865	SO:0001630	splice_region_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2648-1G>A	10.37:g.105800875C>T			105790865	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Splice_Site	SNP	ENST00000353479.5	37	CCDS7554.1																																																																																				0.572	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	Silent	T	105800875	C	T	105800875	5	4	180	1	0	0	0	0	0	0	1	0	3674	637	22	2	1916	2	COL17A1	10	105800875	Splice_Site	SNP	C	TCGA-23-1109-01A-01W-0484-10		105800875	29733872	3	10190											
ESR2	2100	hgsc.bcm.edu	37	14	64727260	64727260	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1109-01A-01W-0484-10	TCGA-23-1109-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	5afcf837-a7d9-4b97-b4c7-a0f2652f5200	4bbc6ec2-2d1c-4fef-a40a-e90d608c4673	g.chr14:64727260C>T	ENST00000341099.4	-	5	1276	c.859G>A	c.(859-861)Gcg>Acg	p.A287T	ESR2_ENST00000542956.1_Missense_Mutation_p.A287T|ESR2_ENST00000358599.5_Missense_Mutation_p.A287T|ESR2_ENST00000357782.2_Missense_Mutation_p.A287T|ESR2_ENST00000554572.1_Missense_Mutation_p.A287T|ESR2_ENST00000555278.1_Missense_Mutation_p.A287T|ESR2_ENST00000553796.1_Missense_Mutation_p.A287T|ESR2_ENST00000353772.3_Missense_Mutation_p.A287T|ESR2_ENST00000557772.1_Missense_Mutation_p.A287T|ESR2_ENST00000267525.6_Missense_Mutation_p.A287T|ESR2_ENST00000555483.1_5'UTR	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	287	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A287T(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGAAGGGCGCACTGGGGCGG	0.642																																																1	Substitution - Missense(1)	ovary(1)	14											68	70	69					14																	64727260		2203	4300	6503	63797013	SO:0001583	missense	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.859G>A	14.37:g.64727260C>T	ENSP00000343925:p.Ala287Thr		63797013	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109085	0.37242	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;T	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;0.66	5.83	-11.7	0.00046	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.654924	0.16758	N	0.200721	D	0.84383	0.5460	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.0;0.0;0.0;0.0	B;B;B;B;B	0.11329	0.006;0.001;0.0;0.0;0.0	T	0.69796	-0.5048	10	0.30854	T	0.27	.	7.3614	0.26748	0.3309:0.4253:0.0:0.2438	.	287;287;287;287;287	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	T	287	ENSP00000452485:A287T;ENSP00000441792:A287T;ENSP00000450699:A287T;ENSP00000335551:A287T;ENSP00000351412:A287T;ENSP00000450488:A287T;ENSP00000452426:A287T;ENSP00000350427:A287T;ENSP00000451582:A287T;ENSP00000343925:A287T;ENSP00000267525:A287T	ENSP00000267525:A287T	A	-	1	0	ESR2	63797013	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-0.476000	0.06591	-3.548000	0.00143	-0.309000	0.09137	GCG		0.642	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64727260	C	T	64727260	3	4	180	1	0	0	0	0	1	0	0	0	5257	710	25	2	839	2	ESR2	14	64727260	Missense_Mutation	SNP	C	TCGA-23-1109-01A-01W-0484-10		64727260	42622280	4	10191											
MYO5C	55930	hgsc.bcm.edu	37	15	52564779	52564779	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1109-01A-01W-0484-10	TCGA-23-1109-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	5afcf837-a7d9-4b97-b4c7-a0f2652f5200	4bbc6ec2-2d1c-4fef-a40a-e90d608c4673	g.chr15:52564779G>T	ENST00000261839.7	-	6	909	c.748C>A	c.(748-750)Caa>Aaa	p.Q250K	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Missense_Mutation_p.Q193K	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	250	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q250K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATACTTACTTGAAAGACAACT	0.348																																																1	Substitution - Missense(1)	ovary(1)	15											108	100	103					15																	52564779		1817	4075	5892	50352071	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.748C>A	15.37:g.52564779G>T	ENSP00000261839:p.Gln250Lys		50352071	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348055	0.95807	.	.	ENSG00000128833	ENST00000261839;ENST00000443683;ENST00000541028	D;D	0.88975	-2.45;-2.45	5.98	5.98	0.97165	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.98521	1.0623	10	0.72032	D	0.01	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	213;250	F5H231;Q9NQX4	.;MYO5C_HUMAN	K	250;193;213	ENSP00000261839:Q250K;ENSP00000410582:Q193K	ENSP00000261839:Q250K	Q	-	1	0	MYO5C	50352071	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.838000	0.97847	0.655000	0.94253	CAA		0.348	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		T	52564779	G	T	52564779	3	4	180	1	0	0	0	0	1	0	0	0	10080	1299	45	3	4624	3	MYO5C	15	52564779	Missense_Mutation	SNP	G	TCGA-23-1109-01A-01W-0484-10		52564779	49966613	5	10192											
SRPX2	27286	hgsc.bcm.edu	37	X	99921808	99921808	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1109-01A-01W-0484-10	TCGA-23-1109-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	5afcf837-a7d9-4b97-b4c7-a0f2652f5200	4bbc6ec2-2d1c-4fef-a40a-e90d608c4673	g.chrX:99921808C>T	ENST00000373004.3	+	8	1267	c.839C>T	c.(838-840)gCg>gTg	p.A280V		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	280	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.A280V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGCACCTCAGCGGGGGACAAC	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											61	52	55					X																	99921808		2203	4300	6503	99808464	SO:0001583	missense	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.839C>T	X.37:g.99921808C>T	ENSP00000362095:p.Ala280Val		99808464	B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701842	0.30232	.	.	ENSG00000102359	ENST00000373004	T	0.64618	-0.11	5.7	1.73	0.24493	Complement control module (2);Sushi/SCR/CCP (3);	0.356956	0.32244	N	0.006364	T	0.50051	0.1593	L	0.55017	1.72	0.22511	N	0.999033	B	0.06786	0.001	B	0.06405	0.002	T	0.34675	-0.9819	9	.	.	.	-1.9363	6.5492	0.22423	0.3457:0.5087:0.0:0.1456	.	280	O60687	SRPX2_HUMAN	V	280	ENSP00000362095:A280V	.	A	+	2	0	SRPX2	99808464	0.186000	0.23225	0.175000	0.22980	0.519000	0.34347	0.760000	0.26475	0.195000	0.20347	-0.191000	0.12829	GCG		0.572	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		T	99921808	C	T	99921808	3	4	180	1	0	0	0	0	1	0	0	0	15167	768	27	1	865	1	SRPX2	23	99921808	Missense_Mutation	SNP	C	TCGA-23-1109-01A-01W-0484-10		99921808	55348752	6	10193											
C1orf158	93190	broad.mit.edu	37	1	12819361	12819361	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:12819361G>C	ENST00000288048.5	+	3	560	c.344G>C	c.(343-345)cGc>cCc	p.R115P	C1orf158_ENST00000376210.3_Missense_Mutation_p.R77P	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	115								p.R115P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCACTCCGCACTTGGAAT	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											113	116	115					1																	12819361		2203	4300	6503	12741948	SO:0001583	missense	93190			BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.344G>C	1.37:g.12819361G>C	ENSP00000288048:p.Arg115Pro		12741948	Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	16.21	3.058780	0.55325	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.73047	-0.52;-0.71	5.69	4.77	0.60923	.	0.057423	0.64402	D	0.000001	D	0.82444	0.5038	M	0.79475	2.455	0.23107	N	0.998286	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.979	T	0.74269	-0.3720	10	0.87932	D	0	-21.3366	11.0859	0.48086	0.0878:0.0:0.9122:0.0	.	115;115	B4DQE0;Q8N1D5	.;CA158_HUMAN	P	115;77	ENSP00000288048:R115P;ENSP00000365383:R77P	ENSP00000288048:R115P	R	+	2	0	C1orf158	12741948	0.717000	0.27966	0.590000	0.28732	0.595000	0.36748	3.224000	0.51238	2.684000	0.91462	0.655000	0.94253	CGC		0.537	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		C	12819361	G	C	12819361	3	2	181	1	0	0	0	0	1	0	0	0	2007	1087	38	3	354	3	C1orf158	1	12819361	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08		12819361	236431260	1	10194											
TMEM53	79639	broad.mit.edu	37	1	45120665	45120665	+	Missense_Mutation	SNP	G	G	T	rs371389325		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:45120665G>T	ENST00000372237.3	-	3	563	c.400C>A	c.(400-402)Cgc>Agc	p.R134S	TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R104S|TMEM53_ENST00000372242.3_Missense_Mutation_p.R134S	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	134						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R134S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					ACACGCAGGCGGCAGAAGCGA	0.647																																																1	Substitution - Missense(1)	ovary(1)	1											39	40	40					1																	45120665		2203	4300	6503	44893252	SO:0001583	missense	79639				CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.400C>A	1.37:g.45120665G>T	ENSP00000361311:p.Arg134Ser		44893252	B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532321	0.27387	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.67	4.76	0.60689	.	0.326909	0.35838	N	0.002942	T	0.14227	0.0344	N	0.03608	-0.345	0.09310	N	0.999995	B	0.10296	0.003	B	0.11329	0.006	T	0.26360	-1.0105	9	0.08381	T	0.77	.	8.5795	0.33619	0.0745:0.0:0.6745:0.2511	.	134	Q6P2H8	TMM53_HUMAN	S	134;134;104;103	.	ENSP00000361309:R104S	R	-	1	0	TMEM53	44893252	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	2.163000	0.42377	1.411000	0.46957	0.563000	0.77884	CGC		0.647	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		T	45120665	G	T	45120665	3	4	181	1	0	0	0	0	1	0	0	0	16179	1116	39	3	437	3	TMEM53	1	45120665	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	32301304	45120665	204129956	2	10195											
DNASE2B	58511	broad.mit.edu	37	1	84864267	84864267	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:84864267C>A	ENST00000370665.3	+	1	53	c.20C>A	c.(19-21)gCa>gAa	p.A7E		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	7					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)	p.A7E(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		AAAATGATGGCAAGACTGCTA	0.478																																					Pancreas(54;788 1175 11852 16034 30034)											1	Substitution - Missense(1)	ovary(1)	1											193	201	199					1																	84864267		2062	4212	6274	84636855	SO:0001583	missense	58511			AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.20C>A	1.37:g.84864267C>A	ENSP00000359699:p.Ala7Glu		84636855	Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	C	8.713	0.912454	0.17907	.	.	ENSG00000137976	ENST00000370665	T	0.11385	2.78	5.23	3.3	0.37823	.	0.604283	0.17048	N	0.189058	T	0.04452	0.0122	L	0.54323	1.7	0.23550	N	0.997439	P	0.48911	0.917	B	0.41299	0.353	T	0.23904	-1.0175	10	0.87932	D	0	-0.0238	7.0029	0.24820	0.0:0.785:0.0:0.215	.	7	Q8WZ79	DNS2B_HUMAN	E	7	ENSP00000359699:A7E	ENSP00000359699:A7E	A	+	2	0	DNASE2B	84636855	0.000000	0.05858	0.091000	0.20842	0.034000	0.12701	0.221000	0.17680	0.838000	0.34948	0.655000	0.94253	GCA		0.478	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		A	84864267	C	A	84864267	3	1	181	1	0	0	0	0	1	0	0	0	4665	710	25	3	22	3	DNASE2B	1	84864267	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	39743602	84864267	164386354	3	10196											
NTNG1	22854	broad.mit.edu	37	1	107979317	107979317	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:107979317A>C	ENST00000370068.1	+	7	2132	c.1286A>C	c.(1285-1287)cAt>cCt	p.H429P	NTNG1_ENST00000370073.2_Missense_Mutation_p.H429P|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H429P|NTNG1_ENST00000370061.3_Missense_Mutation_p.H395P|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	429	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGCTCAATCCATGATCGTTGT	0.478																																																0			1											163	139	146					1																	107979317		1568	3582	5150	107780840	SO:0001583	missense	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1286A>C	1.37:g.107979317A>C	ENSP00000359085:p.His429Pro		107780840	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486335	0.26686	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	6.17	6.17	0.99709	EGF-like, laminin (3);	0.000000	0.64402	D	0.000006	T	0.38772	0.1053	L	0.49640	1.575	0.80722	D	1	P;P	0.43938	0.68;0.822	B;B	0.41374	0.284;0.355	T	0.34625	-0.9821	10	0.29301	T	0.29	.	11.794	0.52088	0.9326:0.0:0.0674:0.0	.	395;429	B4DKF0;Q9Y2I2	.;NTNG1_HUMAN	P	429;429;395;232;176;429	ENSP00000359090:H429P;ENSP00000440561:H429P;ENSP00000359078:H395P;ENSP00000359085:H429P	ENSP00000359078:H395P	H	+	2	0	NTNG1	107780840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.821000	0.39041	2.371000	0.80710	0.533000	0.62120	CAT		0.478	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		C	107979317	A	C	107979317	3	2	181	1	0	0	0	0	1	0	0	0	10704	217	8	5	1442	5	NTNG1	1	107979317	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	23115050	107979317	141271304	4	10197											
LCE5A	254910	broad.mit.edu	37	1	152484108	152484108	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:152484108C>T	ENST00000334269.2	+	2	274	c.98C>T	c.(97-99)cCc>cTc	p.P33L	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	33	Cys-rich.				keratinization (GO:0031424)			p.P33L(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cccaagtgtcccccaaAATGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											97	88	91					1																	152484108		2203	4300	6503	150750732	SO:0001583	missense	254910			BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"Late cornified envelopes"	16614	protein-coding gene	gene with protein product		612619	"small proline rich-like (epidermal differentiation complex) 5A"	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.98C>T	1.37:g.152484108C>T	ENSP00000333952:p.Pro33Leu		150750732		Missense_Mutation	SNP	ENST00000334269.2	37	CCDS1011.1	.	.	.	.	.	.	.	.	.	.	C	2.837	-0.241304	0.05906	.	.	ENSG00000186207	ENST00000334269	T	0.12984	2.63	4.17	3.23	0.37069	.	.	.	.	.	T	0.13157	0.0319	M	0.88906	2.99	0.09310	N	1	P	0.46784	0.884	P	0.45538	0.484	T	0.07443	-1.0772	9	0.38643	T	0.18	-2.1669	9.8973	0.41327	0.0:0.792:0.208:0.0	.	33	Q5TCM9	LCE5A_HUMAN	L	33	ENSP00000333952:P33L	ENSP00000333952:P33L	P	+	2	0	LCE5A	150750732	0.009000	0.17119	0.020000	0.16555	0.221000	0.24807	1.257000	0.32932	1.055000	0.40461	0.404000	0.27445	CCC		0.607	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		T	152484108	C	T	152484108	3	4	181	1	0	0	0	0	1	0	0	0	8675	623	22	2	100	2	LCE5A	1	152484108	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	44504791	152484108	96766513	5	10198											
GON4L	54856	broad.mit.edu	37	1	155791321	155791321	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:155791321G>C	ENST00000368331.1	-	5	955	c.907C>G	c.(907-909)Cac>Gac	p.H303D	GON4L_ENST00000437809.1_Missense_Mutation_p.H303D|GON4L_ENST00000271883.5_Missense_Mutation_p.H303D|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.H303D	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	303					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.H303D(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTACCACGTGTTCATTTGTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											213	170	184					1																	155791321		2203	4300	6503	154057945	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.907C>G	1.37:g.155791321G>C	ENSP00000357315:p.His303Asp		154057945	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.968177	0.74131	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.14640	2.67;2.68;2.67;2.49	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.72118	2.19	0.39230	D	0.963653	D;D;D;D	0.76494	0.996;0.999;0.999;0.999	D;D;D;D	0.77557	0.99;0.973;0.941;0.973	T	0.01185	-1.1425	10	0.54805	T	0.06	.	16.5835	0.84720	0.0:0.0:1.0:0.0	.	303;303;303;303	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	D	303	ENSP00000396117:H303D;ENSP00000357315:H303D;ENSP00000271883:H303D;ENSP00000354322:H303D	ENSP00000271883:H303D	H	-	1	0	GON4L	154057945	1.000000	0.71417	0.989000	0.46669	0.880000	0.50808	7.337000	0.79256	2.693000	0.91896	0.655000	0.94253	CAC		0.393	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		C	155791321	G	C	155791321	3	2	181	1	0	0	0	0	1	0	0	0	6572	1377	48	3	6044	3	GON4L	1	155791321	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	3307213	155791321	93459300	6	10199											
OR10J1	26476	broad.mit.edu	37	1	159409906	159409906	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:159409906A>T	ENST00000423932.3	+	1	395	c.358A>T	c.(358-360)Atc>Ttc	p.I120F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	120					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I120F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AACCTTTGGCATCACTAACTG	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											110	92	98					1																	159409906		2203	4300	6503	157676530	SO:0001583	missense	26476			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.358A>T	1.37:g.159409906A>T	ENSP00000399078:p.Ile120Phe		157676530	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461109	0.43736	.	.	ENSG00000196184	ENST00000423932	T	0.01313	5.02	4.49	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000737	T	0.01124	0.0037	L	0.42581	1.335	0.09310	N	1	D	0.64830	0.994	D	0.71656	0.974	T	0.44143	-0.9347	10	0.09843	T	0.71	.	5.7886	0.18347	0.7917:0.0:0.2083:0.0	.	120	P30954	O10J1_HUMAN	F	120	ENSP00000399078:I120F	ENSP00000399078:I120F	I	+	1	0	OR10J1	157676530	0.000000	0.05858	0.029000	0.17559	0.976000	0.68499	0.114000	0.15520	0.854000	0.35336	0.533000	0.62120	ATC		0.488	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		T	159409906	A	T	159409906	3	4	181	1	0	0	0	0	1	0	0	0	10910	217	8	5	360	5	OR10J1	1	159409906	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	3618585	159409906	89840715	7	10200											
LRRC52	440699	broad.mit.edu	37	1	165513563	165513563	+	Silent	SNP	G	G	T	rs137987001		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:165513563G>T	ENST00000294818.1	+	1	320	c.30G>T	c.(28-30)ggG>ggT	p.G10G	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	10					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G10G(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTGGCCCTGGGTGGTTACTCT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	1											119	113	115					1																	165513563		2203	4300	6503	163780187	SO:0001819	synonymous_variant	440699			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.30G>T	1.37:g.165513563G>T			163780187	A2RUN7|Q5T9K5	Silent	SNP	ENST00000294818.1	37	CCDS30930.1																																																																																				0.532	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		T	165513563	G	T	165513563	2	4	181	1	0	0	0	0	0	0	0	1	9010	1248	44	3		3	LRRC52	1	165513563	Silent	SNP	G	TCGA-23-1110-01A-01D-0428-08	6103657	165513563	83737058	8	10201											
CACNA1S	779	broad.mit.edu	37	1	201061156	201061156	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:201061156T>G	ENST00000362061.3	-	4	711	c.485A>C	c.(484-486)aAg>aCg	p.K162T	CACNA1S_ENST00000367338.3_Missense_Mutation_p.K162T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	162					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K162T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTGAGGGCCTTGACATCCAA	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											89	83	85					1																	201061156		2203	4300	6503	199327779	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.485A>C	1.37:g.201061156T>G	ENSP00000355192:p.Lys162Thr		199327779	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887834	0.72410	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97505	-4.41;-4.41	4.48	4.48	0.54585	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.80616	2.505	0.44946	D	0.997969	D	0.89917	1.0	D	0.97110	1.0	D	0.98233	1.0484	10	0.59425	D	0.04	.	10.2539	0.43385	0.0:0.0818:0.0:0.9182	.	162	Q13698	CAC1S_HUMAN	T	162	ENSP00000355192:K162T;ENSP00000356307:K162T	ENSP00000355192:K162T	K	-	2	0	CACNA1S	199327779	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.886000	0.56190	1.784000	0.52394	0.533000	0.62120	AAG		0.592	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201061156	T	G	201061156	3	3	181	1	0	0	0	0	1	0	0	0	2547	1609	56	5	5300	5	CACNA1S	1	201061156	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	35547593	201061156	48189465	9	10202											
TLR5	7100	broad.mit.edu	37	1	223284970	223284970	+	Silent	SNP	G	G	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:223284970G>T	ENST00000540964.1	-	4	1865	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	TLR5_ENST00000342210.6_Silent_p.T468T			O60602	TLR5_HUMAN	toll-like receptor 5	468			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.T468T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCTCTGAAGGGGTTTGATCTC	0.413																																																1	Substitution - coding silent(1)	ovary(1)	1											81	83	82					1																	223284970		2203	4300	6503	221351593	SO:0001819	synonymous_variant	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1404C>A	1.37:g.223284970G>T			221351593	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	CCDS31033.1																																																																																				0.413	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		T	223284970	G	T	223284970	2	4	181	1	0	0	0	0	0	0	0	1	15954	1219	43	3		3	TLR5	1	223284970	Silent	SNP	G	TCGA-23-1110-01A-01D-0428-08	22223814	223284970	25965651	10	10203											
EPHX1	2052	broad.mit.edu	37	1	226019478	226019478	+	Splice_Site	SNP	A	A	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr1:226019478A>T	ENST00000366837.4	+	3	379		c.e3-1		EPHX1_ENST00000467015.1_Splice_Site|EPHX1_ENST00000272167.5_Splice_Site	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)						aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ATTTTGCTCCAGGACTTACAC	0.493																																																1	Unknown(1)	ovary(1)	1											82	75	77					1																	226019478		2203	4300	6503	224086101	SO:0001630	splice_region_variant	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.184-1A>T	1.37:g.226019478A>T			224086101	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Splice_Site	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.773918	0.49786	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8228	0.78673	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHX1	224086101	1.000000	0.71417	0.970000	0.41538	0.279000	0.26890	9.070000	0.93974	2.146000	0.66826	0.528000	0.53228	.		0.493	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120	Intron	T	226019478	A	T	226019478	5	4	181	1	0	0	0	0	0	0	1	0	5179	202	7	5	188	5	EPHX1	1	226019478	Splice_Site	SNP	A	TCGA-23-1110-01A-01D-0428-08	2734508	226019478	23231143	11	10204											
LPIN1	23175	broad.mit.edu	37	2	11944604	11944604	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr2:11944604A>G	ENST00000256720.2	+	15	2054	c.1961A>G	c.(1960-1962)cAg>cGg	p.Q654R	LPIN1_ENST00000404113.2_Missense_Mutation_p.Q155R|LPIN1_ENST00000449576.2_Missense_Mutation_p.Q739R|LPIN1_ENST00000396099.1_Missense_Mutation_p.Q696R|LPIN1_ENST00000425416.2_Missense_Mutation_p.Q660R|LPIN1_ENST00000396097.1_Missense_Mutation_p.Q384R	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	654	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.Q654R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GTCACCACGCAGTACCAAGGC	0.463																																																1	Substitution - Missense(1)	ovary(1)	2											116	102	107					2																	11944604		2203	4300	6503	11862055	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1961A>G	2.37:g.11944604A>G	ENSP00000256720:p.Gln654Arg		11862055	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148788	0.78001	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	D;T;T;T;T;T;T	0.81579	-1.51;-1.49;-1.48;-1.48;-1.32;-0.12;0.31	4.75	4.75	0.60458	.	0.050518	0.85682	D	0.000000	D	0.87184	0.6114	L	0.58583	1.82	0.80722	D	1	D;D;B	0.76494	0.999;0.999;0.057	D;D;B	0.91635	0.967;0.999;0.053	D	0.87155	0.2211	10	0.45353	T	0.12	-27.2587	14.9748	0.71264	1.0:0.0:0.0:0.0	.	155;739;654	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	R	739;696;660;654;384;155;181	ENSP00000397908:Q739R;ENSP00000379406:Q696R;ENSP00000401522:Q660R;ENSP00000256720:Q654R;ENSP00000379404:Q384R;ENSP00000386120:Q155R;ENSP00000413714:Q181R	ENSP00000256720:Q654R	Q	+	2	0	LPIN1	11862055	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	8.839000	0.92120	2.090000	0.63153	0.533000	0.62120	CAG		0.463	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		G	11944604	A	G	11944604	3	3	181	1	0	0	0	0	1	0	0	0	8918	188	7	4	2015	4	LPIN1	2	11944604	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08		11944604	231254769	12	10205											
CD8A	925	broad.mit.edu	37	2	87017544	87017544	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr2:87017544C>T	ENST00000409511.2	-	5	1340	c.310G>A	c.(310-312)Gac>Aac	p.D104N	CD8A_ENST00000538832.1_Missense_Mutation_p.D145N|CD8A_ENST00000409781.1_Missense_Mutation_p.D104N|CD8A_ENST00000283635.3_Missense_Mutation_p.D104N|CD8A_ENST00000456996.2_Missense_Mutation_p.D104N|CD8A_ENST00000352580.3_Missense_Mutation_p.D104N	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	104	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.D104N(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CGGCGGAAGTCGCTCAGGGTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	2											61	67	65					2																	87017544		2203	4300	6503	86871055	SO:0001583	missense	925				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1706	protein-coding gene	gene with protein product		186910	"CD8 antigen, alpha polypeptide (p32)", "T-cell surface glycoprotein CD8 alpha chain"	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.310G>A	2.37:g.87017544C>T	ENSP00000386559:p.Asp104Asn		86871055	B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	C	2.355	-0.348045	0.05208	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	4.69	-9.38	0.00623	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	4.468150	0.00166	N	0.000000	T	0.30008	0.0751	N	0.13235	0.315	0.09310	N	1	P;B;B	0.41947	0.766;0.001;0.032	B;B;B	0.31290	0.127;0.0;0.002	T	0.46735	-0.9170	10	0.02654	T	1	9.0E-4	7.0182	0.24900	0.0663:0.2856:0.0938:0.5544	.	145;104;104	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	N	104;104;104;104;89;145;104	ENSP00000398868:D104N;ENSP00000321631:D104N;ENSP00000283635:D104N;ENSP00000386559:D104N;ENSP00000438371:D145N;ENSP00000387314:D104N	ENSP00000283635:D104N	D	-	1	0	CD8A	86871055	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.943000	0.00167	-3.858000	0.00098	-0.304000	0.09214	GAC		0.617	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		T	87017544	C	T	87017544	3	4	181	1	0	0	0	0	1	0	0	0	3044	884	31	1	417	1	CD8A	2	87017544	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	75072940	87017544	156181829	13	10206											
ARHGAP15	55843	broad.mit.edu	37	2	144193179	144193179	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr2:144193179G>T	ENST00000295095.6	+	7	651	c.484G>T	c.(484-486)Gta>Tta	p.V162L	RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	162	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.V162L(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCACAACAGTATCAGGAAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	2											93	84	87					2																	144193179		2203	4299	6502	143909649	SO:0001583	missense	55843			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.484G>T	2.37:g.144193179G>T	ENSP00000295095:p.Val162Leu		143909649	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	8.219	0.801997	0.16397	.	.	ENSG00000075884	ENST00000295095	T	0.74947	-0.89	5.47	0.932	0.19466	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.242940	0.05219	N	0.508190	T	0.65123	0.2661	L	0.42744	1.35	0.26967	N	0.965679	B;B	0.02656	0.0;0.0	B;B	0.11329	0.001;0.006	T	0.42999	-0.9418	10	0.26408	T	0.33	.	5.8033	0.18426	0.1643:0.0:0.3058:0.5299	.	162;162	B4E0R3;Q53QZ3	.;RHG15_HUMAN	L	162	ENSP00000295095:V162L	ENSP00000295095:V162L	V	+	1	0	ARHGAP15	143909649	0.993000	0.37304	0.650000	0.29550	0.867000	0.49689	0.887000	0.28254	-0.061000	0.13110	-0.188000	0.12872	GTA		0.299	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		T	144193179	G	T	144193179	3	4	181	1	0	0	0	0	1	0	0	0	866	1029	36	3	506	3	ARHGAP15	2	144193179	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	57175635	144193179	99006194	14	10207											
TTN	7273	broad.mit.edu	37	2	179427935	179427935	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr2:179427935A>G	ENST00000591111.1	-	276	78225	c.78001T>C	c.(78001-78003)Tat>Cat	p.Y26001H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y18577H|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y18702H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y25074H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y18769H|TTN_ENST00000589042.1_Missense_Mutation_p.Y27642H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26001	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y25072H(1)|p.Y18577H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGAAGTTATATTCAGTGTTT	0.463																																																2	Substitution - Missense(2)	ovary(2)	2											150	152	151					2																	179427935		1998	4162	6160	179136181	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78001T>C	2.37:g.179427935A>G	ENSP00000465570:p.Tyr26001His		179136181	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	16.90	3.250683	0.59212	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.41	5.41	0.78517	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97275	0.9109	H	0.99619	4.66	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.99146	1.0857	9	0.87932	D	0	.	15.4331	0.75121	1.0:0.0:0.0:0.0	.	18577;18702;18769;26001	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	25074;18577;18769;18702;18575	ENSP00000343764:Y25074H;ENSP00000434586:Y18577H;ENSP00000340554:Y18769H;ENSP00000352154:Y18702H	ENSP00000340554:Y18769H	Y	-	1	0	TTN	179136181	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.281000	0.95811	2.061000	0.61500	0.379000	0.24179	TAT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179427935	A	G	179427935	3	3	181	1	0	0	0	0	1	0	0	0	16735	449	16	4	25203	4	TTN	2	179427935	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	35234756	179427935	63771438	15	10208											
SGOL2	151246	broad.mit.edu	37	2	201438387	201438387	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr2:201438387G>T	ENST00000357799.4	+	7	3416	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1106					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.K1106N(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCAGGGAAAGTCTACTGTAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											112	107	108					2																	201438387		1838	4082	5920	201146632	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3318G>T	2.37:g.201438387G>T	ENSP00000350447:p.Lys1106Asn		201146632	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980195	0.34942	.	.	ENSG00000163535	ENST00000357799	T	0.12361	2.69	5.3	0.948	0.19561	.	0.942678	0.08813	N	0.889982	T	0.13200	0.0320	L	0.34521	1.04	0.09310	N	1	P;P;P	0.41265	0.744;0.744;0.744	B;B;B	0.41619	0.361;0.361;0.211	T	0.29397	-1.0013	10	0.62326	D	0.03	1.3423	10.2543	0.43388	0.2334:0.0:0.7666:0.0	.	1106;1106;1106	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	1106	ENSP00000350447:K1106N	ENSP00000350447:K1106N	K	+	3	2	SGOL2	201146632	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.264000	0.18497	-0.011000	0.14247	-0.145000	0.13849	AAG		0.363	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		T	201438387	G	T	201438387	3	4	181	1	0	0	0	0	1	0	0	0	14220	1020	36	3	3340	3	SGOL2	2	201438387	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	22010452	201438387	41760986	16	10209											
TNS1	7145	broad.mit.edu	37	2	218678419	218678419	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr2:218678419T>C	ENST00000171887.4	-	26	4990	c.4538A>G	c.(4537-4539)cAg>cGg	p.Q1513R	TNS1_ENST00000430930.1_Missense_Mutation_p.Q1492R|TNS1_ENST00000419504.1_Missense_Mutation_p.Q1500R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1513	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.Q1513R(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTTTTTATTCTGCTGCATGAT	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											133	133	133					2																	218678419		2203	4300	6503	218386664	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4538A>G	2.37:g.218678419T>C	ENSP00000171887:p.Gln1513Arg		218386664	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207175	0.58343	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91843	-2.92;2.14;-2.85;-2.92	5.15	5.15	0.70609	SH2 motif (4);	0.070369	0.64402	D	0.000015	D	0.93697	0.7986	M	0.65975	2.015	0.80722	D	1	P;P;B	0.47604	0.743;0.898;0.07	P;P;B	0.57057	0.677;0.812;0.143	D	0.92920	0.6354	10	0.41790	T	0.15	.	11.1855	0.48653	0.0:0.0:0.1536:0.8464	.	1513;1492;1500	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	R	1513;651;1500;1492	ENSP00000171887:Q1513R;ENSP00000394171:Q651R;ENSP00000408724:Q1500R;ENSP00000406016:Q1492R	ENSP00000171887:Q1513R	Q	-	2	0	TNS1	218386664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.004000	0.40854	2.163000	0.67991	0.459000	0.35465	CAG		0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		C	218678419	T	C	218678419	3	2	181	1	0	0	0	0	1	0	0	0	16343	1580	55	4	701	4	TNS1	2	218678419	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	17240032	218678419	24520954	17	10210											
UGT1A8	54658	broad.mit.edu	37	2	234526586	234526586	+	Nonsense_Mutation	SNP	C	C	G	rs200115254		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr2:234526586C>G	ENST00000373450.4	+	1	296	c.233C>G	c.(232-234)tCa>tGa	p.S78*		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	80					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.S78*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AAGACTTACTCAACCTCATAC	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	2											133	124	127					2																	234526586		2203	4300	6503	234191325	SO:0001587	stop_gained	54576			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.233C>G	2.37:g.234526586C>G	ENSP00000362549:p.Ser78*		234191325	A6NJC3|B8K286	Nonsense_Mutation	SNP	ENST00000373450.4	37	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707344	0.68615	.	.	ENSG00000242366	ENST00000373450	.	.	.	3.96	-2.22	0.06952	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.6158	0.33831	0.5213:0.4042:0.0:0.0746	.	.	.	.	X	78	.	ENSP00000362549:S78X	S	+	2	0	UGT1A8	234191325	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.735000	0.26115	-0.191000	0.10448	-0.558000	0.04189	TCA		0.463	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			G	234526586	C	G	234526586	4	3	181	1	0	0	0	0	0	1	0	0	16951	838	29	3	235	3	UGT1A8	2	234526586	Nonsense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	15848167	234526586	8672787	18	10211											
RFTN1	23180	broad.mit.edu	37	3	16358730	16358730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr3:16358730G>A	ENST00000334133.4	-	10	1614	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000432519.1_Nonsense_Mutation_p.R412*|OXNAD1_ENST00000605932.1_Intron|RP11-415F23.2_ENST00000607464.1_RNA	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	448					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.R448*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTGGAGAATCGCCACTGAAAC	0.438																																																1	Substitution - Nonsense(1)	ovary(1)	3											72	70	71					3																	16358730		2203	4300	6503	16333734	SO:0001587	stop_gained	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1342C>T	3.37:g.16358730G>A	ENSP00000334153:p.Arg448*		16333734	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Nonsense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	37	5.996026	0.97184	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	.	.	.	5.43	4.53	0.55603	.	0.207467	0.35349	N	0.003275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5365	11.4175	0.49960	0.0:0.0:0.6731:0.3269	.	.	.	.	X	412;448	.	ENSP00000334153:R448X	R	-	1	2	RFTN1	16333734	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.515000	0.45512	1.375000	0.46248	0.563000	0.77884	CGA		0.438	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		A	16358730	G	A	16358730	4	1	181	1	0	0	0	0	0	1	0	0	13261	1095	38	1	398	1	RFTN1	3	16358730	Nonsense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08		16358730	181663700	19	10212											
OR5H2	79310	broad.mit.edu	37	3	98001793	98001793	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr3:98001793G>A	ENST00000355273.2	+	1	62	c.62G>A	c.(61-63)gGa>gAa	p.G21E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G21E(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTTCTCACAGGACTTACATAT	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											243	230	234					3																	98001793		2203	4300	6503	99484483	SO:0001583	missense	79310				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.62G>A	3.37:g.98001793G>A	ENSP00000347418:p.Gly21Glu		99484483	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380029	0.61845	.	.	ENSG00000197938	ENST00000355273	T	0.00655	5.95	3.2	3.2	0.36748	.	0.000000	0.38897	U	0.001522	T	0.05823	0.0152	M	0.92507	3.315	0.43110	D	0.994811	D	0.89917	1.0	D	0.97110	1.0	T	0.02683	-1.1124	10	0.87932	D	0	.	12.205	0.54346	0.0:0.0:1.0:0.0	.	21	Q8NGV7	OR5H2_HUMAN	E	21	ENSP00000347418:G21E	ENSP00000347418:G21E	G	+	2	0	OR5H2	99484483	1.000000	0.71417	0.994000	0.49952	0.656000	0.38851	7.904000	0.87408	1.787000	0.52448	0.543000	0.68304	GGA		0.413	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			A	98001793	G	A	98001793	3	1	181	1	0	0	0	0	1	0	0	0	11162	1174	41	2	64	2	OR5H2	3	98001793	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	81643063	98001793	100020637	20	10213											
MORC1	27136	broad.mit.edu	37	3	108822695	108822695	+	Splice_Site	SNP	C	C	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr3:108822695C>A	ENST00000483760.1	-	4	267		c.e4+1		MORC1_ENST00000232603.5_Splice_Site|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1									p.?(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTAACTTACCAGGGCTCAT	0.363																																																1	Unknown(1)	ovary(1)	3											105	104	104					3																	108822695		2203	4300	6503	110305385	SO:0001630	splice_region_variant	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.223+1G>T	3.37:g.108822695C>A			110305385		Splice_Site	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.086876	0.76642	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7355	0.85446	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC1	110305385	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.571000	0.67404	2.821000	0.97095	0.484000	0.47621	.		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		Intron	A	108822695	C	A	108822695	5	1	181	1	0	0	0	0	0	0	1	0	9701	521	18	3	2830	3	MORC1	3	108822695	Splice_Site	SNP	C	TCGA-23-1110-01A-01D-0428-08	10820902	108822695	89199735	21	10214											
MFN1	55669	broad.mit.edu	37	3	179066743	179066743	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr3:179066743T>A	ENST00000471841.1	+	2	230	c.104T>A	c.(103-105)tTt>tAt	p.F35Y	MFN1_ENST00000280653.7_Missense_Mutation_p.F35Y|MFN1_ENST00000263969.5_Missense_Mutation_p.F35Y	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	35					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F35Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGATCACATTTTGTTGAAGGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	3											173	170	171					3																	179066743		2203	4300	6503	180549437	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.104T>A	3.37:g.179066743T>A	ENSP00000420617:p.Phe35Tyr		180549437	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806607	0.70682	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.99839	-6.14;-7.07;-5.31;-6.14	4.26	4.26	0.50523	.	0.113912	0.64402	D	0.000009	D	0.99603	0.9856	M	0.69185	2.1	0.58432	D	0.999999	D;D	0.69078	0.997;0.988	P;P	0.57679	0.825;0.769	D	0.97582	1.0111	10	0.52906	T	0.07	-12.5762	13.6784	0.62469	0.0:0.0:0.0:1.0	.	63;35	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	Y	35	ENSP00000420617:F35Y;ENSP00000280653:F35Y;ENSP00000419134:F35Y;ENSP00000263969:F35Y	ENSP00000263969:F35Y	F	+	2	0	MFN1	180549437	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.590000	0.82653	1.687000	0.51057	0.477000	0.44152	TTT		0.348	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		A	179066743	T	A	179066743	3	1	181	1	0	0	0	0	1	0	0	0	9523	1841	64	5	106	5	MFN1	3	179066743	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	70244048	179066743	18955687	22	10215											
EHHADH	1962	broad.mit.edu	37	3	184910746	184910746	+	Silent	SNP	C	C	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr3:184910746C>G	ENST00000231887.3	-	7	1515	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Silent_p.V384V	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	480	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.V480V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TTCGATTCCCCACAAATCCAA	0.413																																																1	Substitution - coding silent(1)	ovary(1)	3											108	109	109					3																	184910746		2203	4300	6503	186393440	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1440G>C	3.37:g.184910746C>G			186393440	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	37	CCDS33901.1																																																																																				0.413	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			G	184910746	C	G	184910746	2	3	181	1	0	0	0	0	0	0	0	1	4982	581	21	3		3	EHHADH	3	184910746	Silent	SNP	C	TCGA-23-1110-01A-01D-0428-08	5844003	184910746	13111684	23	10216											
MASP1	5648	broad.mit.edu	37	3	186974476	186974476	+	Silent	SNP	C	C	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr3:186974476C>A	ENST00000337774.5	-	5	1109	c.720G>T	c.(718-720)gtG>gtT	p.V240V	MASP1_ENST00000392472.2_Silent_p.V127V|MASP1_ENST00000296280.6_Silent_p.V240V|MASP1_ENST00000169293.6_Silent_p.V240V|MASP1_ENST00000392470.2_Silent_p.V214V|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	240	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.V240V(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGGGGCAGGGCACCTCAGGAT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	3											159	129	139					3																	186974476		2203	4300	6503	188457170	SO:0001819	synonymous_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.720G>T	3.37:g.186974476C>A			188457170	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	CCDS33907.1																																																																																				0.488	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		A	186974476	C	A	186974476	2	1	181	1	0	0	0	0	0	0	0	1	9322	697	25	3		3	MASP1	3	186974476	Silent	SNP	C	TCGA-23-1110-01A-01D-0428-08	2063730	186974476	11047954	24	10217											
BOD1L	259282	broad.mit.edu	37	4	13603693	13603693	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr4:13603693T>C	ENST00000040738.5	-	10	4966	c.4831A>G	c.(4831-4833)Aag>Gag	p.K1611E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1611						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1611E(1)									TCCCCTTCCTTAGTGCTTGTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	4											82	81	82					4																	13603693		2203	4300	6503	13212791	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4831A>G	4.37:g.13603693T>C	ENSP00000040738:p.Lys1611Glu		13212791	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777894	0.70107	.	.	ENSG00000038219	ENST00000040738	T	0.11385	2.78	5.23	5.23	0.72850	.	0.000000	0.56097	D	0.000022	T	0.21145	0.0509	L	0.36672	1.1	0.34984	D	0.754387	D	0.76494	0.999	D	0.78314	0.991	T	0.18524	-1.0334	10	0.54805	T	0.06	-9.426	9.8253	0.40908	0.0:0.0809:0.0:0.9191	.	1611	Q8NFC6	BOD1L_HUMAN	E	1611	ENSP00000040738:K1611E	ENSP00000040738:K1611E	K	-	1	0	BOD1L	13212791	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.325000	0.52030	1.965000	0.57142	0.528000	0.53228	AAG		0.493	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13603693	T	C	13603693	3	2	181	1	0	0	0	0	1	0	0	0	1483	1763	61	4	4392	4	BOD1L	4	13603693	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08		13603693	177550583	25	10218											
ZCCHC4	29063	broad.mit.edu	37	4	25334974	25334974	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr4:25334974A>C	ENST00000302874.4	+	4	523	c.499A>C	c.(499-501)Aag>Cag	p.K167Q	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	167							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K167Q(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				ACTGGAAAACAAGAAGACAAA	0.468																																																1	Substitution - Missense(1)	ovary(1)	4											130	124	126					4																	25334974		1893	4107	6000	24944072	SO:0001583	missense	29063			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.499A>C	4.37:g.25334974A>C	ENSP00000303468:p.Lys167Gln		24944072	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	CCDS43218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.317249|4.317249	0.81469|0.81469	.|.	.|.	ENSG00000168228|ENSG00000168228	ENST00000302874|ENST00000505412	T|.	0.22743|.	1.94|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73401|0.73401	0.3582|0.3582	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.59767|.	0.986|.	P|.	0.56163|.	0.793|.	T|T	0.72766|0.72766	-0.4194|-0.4194	10|5	0.45353|.	T|.	0.12|.	-9.7747|-9.7747	16.1832|16.1832	0.81925|0.81925	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	167|.	Q9H5U6|.	ZCHC4_HUMAN|.	Q|P	167|31	ENSP00000303468:K167Q|.	ENSP00000303468:K167Q|.	K|Q	+|+	1|2	0|0	ZCCHC4|ZCCHC4	24944072|24944072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	8.847000|8.847000	0.92166|0.92166	2.228000|2.228000	0.72767|0.72767	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.468	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			C	25334974	A	C	25334974	3	2	181	1	0	0	0	0	1	0	0	0	17590	131	5	5	513	5	ZCCHC4	4	25334974	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	11731281	25334974	165819302	26	10219											
ARAP2	116984	broad.mit.edu	37	4	36230974	36230974	+	Silent	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr4:36230974C>T	ENST00000303965.4	-	2	624	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	45	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.L45L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCTGCAGCAGGCTGTCAT	0.368																																																1	Substitution - coding silent(1)	ovary(1)	4											67	69	68					4																	36230974		2203	4300	6503	35907369	SO:0001819	synonymous_variant	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.135G>A	4.37:g.36230974C>T			35907369	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1																																																																																				0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		T	36230974	C	T	36230974	2	4	181	1	0	0	0	0	0	0	0	1	839	697	25	2		2	ARAP2	4	36230974	Silent	SNP	C	TCGA-23-1110-01A-01D-0428-08	10896000	36230974	154923302	27	10220											
CCDC158	339965	broad.mit.edu	37	4	77276468	77276483	+	Splice_Site	DEL	GCAACCCACCTTATTT	GCAACCCACCTTATTT	-			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	GCAACCCACCTTATTT	GCAACCCACCTTATTT	-	-	GCAACCCACCTTATTT	GCAACCCACCTTATTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr4:77276468_77276483delGCAACCCACCTTATTT	ENST00000388914.3	-	14	2432_2439	c.2280_2287delAAATAAGGTGGGTTGC	c.(2278-2289)gcaaataaggtg>gctg	p.NKV761fs	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	761								p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTGAGGACAGCAACCCACCTTATTTGCATTTGTCA	0.463																																																1	Unknown(1)	ovary(1)	4																																								77495507	SO:0001630	splice_region_variant	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2286+1AAATAAGGTGGGTTGC>-	4.37:g.77276468_77276483delGCAACCCACCTTATTT			77495492	Q8IYQ1|Q8N7D4|Q8N7E3	Splice_Site	DEL	ENST00000388914.3	37	CCDS43242.1																																																																																				0.463	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	Frame_Shift_Del	-	77276483	GCAACCCACCTTATTT	-	77276468	8	5	181	1	0	1	0	1	0	0	1	0	2790	986	34	0		0	CCDC158	4	77276468	Splice_Site	DEL	GCAACCCACCTTATTT	TCGA-23-1110-01A-01D-0428-08	41045494	77276468	113877808	28	10221											
DKK2	27123	broad.mit.edu	37	4	107846995	107846995	+	Missense_Mutation	SNP	G	G	C	rs528677483		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr4:107846995G>C	ENST00000285311.3	-	2	1039	c.334C>G	c.(334-336)Cga>Gga	p.R112G	DKK2_ENST00000513208.1_Missense_Mutation_p.R12G|DKK2_ENST00000510463.1_Missense_Mutation_p.R66G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	112	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGCCATCTCGGTGGCAGCGC	0.493																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	ovary(1)|lung(1)	4											177	162	167					4																	107846995		2203	4300	6503	108066444	SO:0001583	missense	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.334C>G	4.37:g.107846995G>C	ENSP00000285311:p.Arg112Gly		108066444	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437691	0.62955	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.60672	0.17;0.39;0.32	5.42	-2.84	0.05751	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.79011	2.435	0.34883	D	0.744787	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.993	T	0.83150	-0.0104	10	0.87932	D	0	-15.7364	19.6666	0.95895	0.0:0.0:0.6583:0.3417	.	112;112	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	G	112;12;66	ENSP00000285311:R112G;ENSP00000421255:R12G;ENSP00000423797:R66G	ENSP00000285311:R112G	R	-	1	2	DKK2	108066444	0.905000	0.30787	0.213000	0.23690	0.983000	0.72400	1.314000	0.33597	-0.155000	0.11098	0.467000	0.42956	CGA		0.493	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			C	107846995	G	C	107846995	3	2	181	1	0	0	0	0	1	0	0	0	4545	1124	39	3	457	3	DKK2	4	107846995	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	30570527	107846995	83307281	29	10222											
FGA	2243	broad.mit.edu	37	4	155505781	155505781	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr4:155505781A>T	ENST00000302053.3	-	6	2174	c.2096T>A	c.(2095-2097)cTg>cAg	p.L699Q		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	699	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.L699Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTCGTCATTCAGGCTGCCGAA	0.493																																					NSCLC(143;340 1922 20892 22370 48145)											1	Substitution - Missense(1)	ovary(1)	4											107	101	103					4																	155505781		2203	4300	6503	155725231	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2096T>A	4.37:g.155505781A>T	ENSP00000306361:p.Leu699Gln		155725231	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741774	0.69304	.	.	ENSG00000171560	ENST00000302053	T	0.79247	-1.25	5.81	4.61	0.57282	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.329619	0.31976	N	0.006778	T	0.73179	0.3554	L	0.47190	1.495	0.80722	D	1	P	0.43938	0.822	B	0.42163	0.378	T	0.74763	-0.3555	10	0.87932	D	0	.	12.2068	0.54356	0.8721:0.0:0.0:0.1279	.	699	P02671	FIBA_HUMAN	Q	699	ENSP00000306361:L699Q	ENSP00000306361:L699Q	L	-	2	0	FGA	155725231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.292000	0.72725	0.989000	0.38761	0.528000	0.53228	CTG		0.493	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		T	155505781	A	T	155505781	3	4	181	1	0	0	0	0	1	0	0	0	5830	188	7	5	508	5	FGA	4	155505781	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	47658786	155505781	35648495	30	10223											
FSTL5	56884	broad.mit.edu	37	4	162402181	162402181	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr4:162402181T>A	ENST00000306100.5	-	13	2035	c.1599A>T	c.(1597-1599)aaA>aaT	p.K533N	FSTL5_ENST00000536695.1_Missense_Mutation_p.K532N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K523N|FSTL5_ENST00000379164.4_Missense_Mutation_p.K532N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	533						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.K533N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCTGAACAACTTTTTGGGACT	0.333																																																1	Substitution - Missense(1)	ovary(1)	4																																								162621631	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1599A>T	4.37:g.162402181T>A	ENSP00000305334:p.Lys533Asn		162621631	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738184	0.69304	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.8	1.96	0.26148	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.76574	2.34	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.997;0.994	P;P;P	0.62382	0.879;0.901;0.829	T	0.35500	-0.9786	10	0.49607	T	0.09	.	9.1795	0.37131	0.0:0.208:0.0:0.792	.	523;532;533	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	533;532;523;532	ENSP00000305334:K533N;ENSP00000368462:K532N;ENSP00000389270:K523N;ENSP00000440409:K532N	ENSP00000305334:K533N	K	-	3	2	FSTL5	162621631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.907000	0.28531	0.111000	0.17947	0.528000	0.53228	AAA		0.333	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		A	162402181	T	A	162402181	3	1	181	1	0	0	0	0	1	0	0	0	6080	1606	56	5	960	5	FSTL5	4	162402181	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	6896400	162402181	28752095	31	10224											
TARS	6897	broad.mit.edu	37	5	33445499	33445499	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr5:33445499G>A	ENST00000265112.3	+	2	438	c.127G>A	c.(127-129)Ggt>Agt	p.G43S	TARS_ENST00000455217.2_Missense_Mutation_p.G43S|TARS_ENST00000541634.1_Silent_p.E2E|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.G43S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	43					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.G43S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGGAGATGGAGGTCGAGCTGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											103	101	102					5																	33445499		2203	4300	6503	33481256	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.127G>A	5.37:g.33445499G>A	ENSP00000265112:p.Gly43Ser		33481256	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466471	0.63625	.	.	ENSG00000113407	ENST00000502553;ENST00000514259;ENST00000265112;ENST00000455217	T;T;T;T	0.45668	0.98;0.89;0.98;0.92	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.986	T	0.50491	-0.8822	10	0.12430	T	0.62	-25.4839	17.5737	0.87942	0.0:0.0:1.0:0.0	.	43;43	B4DEG8;P26639	.;SYTC_HUMAN	S	43	ENSP00000424387:G43S;ENSP00000422130:G43S;ENSP00000265112:G43S;ENSP00000387710:G43S	ENSP00000265112:G43S	G	+	1	0	TARS	33481256	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.040000	0.64191	2.560000	0.86352	0.563000	0.77884	GGT		0.403	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		A	33445499	G	A	33445499	3	1	181	1	0	0	0	0	1	0	0	0	15559	1000	35	2	133	2	TARS	5	33445499	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08		33445499	147469761	32	10225											
C7	730	broad.mit.edu	37	5	40964847	40964847	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr5:40964847A>C	ENST00000313164.9	+	14	2113	c.1754A>C	c.(1753-1755)gAa>gCa	p.E585A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	585	CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.E585A(1)					Ovarian(839;0.0112)				GTTTAGGATGAAGGTACAATG	0.343																																																1	Substitution - Missense(1)	ovary(1)	5											139	138	138					5																	40964847		1854	4102	5956	41000604	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1754A>C	5.37:g.40964847A>C	ENSP00000322061:p.Glu585Ala		41000604	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475185	0.26511	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.64260	-0.09	6.17	5.06	0.68205	Complement control module (2);Sushi/SCR/CCP (3);	0.379952	0.29668	N	0.011504	T	0.47746	0.1462	L	0.33189	0.99	0.29291	N	0.869363	B	0.15141	0.012	B	0.15052	0.012	T	0.34129	-0.9841	10	0.15066	T	0.55	-11.741	11.421	0.49982	0.6391:0.3609:0.0:0.0	.	585	P10643	CO7_HUMAN	A	585;425	ENSP00000322061:E585A	ENSP00000322061:E585A	E	+	2	0	C7	41000604	1.000000	0.71417	0.470000	0.27216	0.616000	0.37450	3.582000	0.53921	2.371000	0.80710	0.533000	0.62120	GAA		0.343	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			C	40964847	A	C	40964847	3	2	181	1	0	0	0	0	1	0	0	0	2375	246	9	5	1808	5	C7	5	40964847	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	7519348	40964847	139950413	33	10226											
RREB1	6239	broad.mit.edu	37	6	7240715	7240715	+	Intron	SNP	A	A	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr6:7240715A>G	ENST00000349384.6	+	11	4122				RREB1_ENST00000334984.6_Missense_Mutation_p.T1285A|RREB1_ENST00000379938.2_Missense_Mutation_p.T1285A|RREB1_ENST00000379933.3_Intron	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTTCTTTTCTACCAAATCTAA	0.423																																																0			6											120	116	117					6																	7240715		2203	4300	6503	7185714	SO:0001627	intron_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3809-5942A>G	6.37:g.7240715A>G			7185714	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.945560	0.73672	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	T;T	0.22539	1.95;1.95	5.17	5.17	0.71159	.	.	.	.	.	T	0.32315	0.0825	M	0.69823	2.125	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.08722	-1.0708	9	0.17832	T	0.49	-48.5737	15.1796	0.72945	1.0:0.0:0.0:0.0	.	1285;1285	Q92766-3;Q92766-2	.;.	A	1285	ENSP00000369270:T1285A;ENSP00000335574:T1285A	ENSP00000335574:T1285A	T	+	1	0	RREB1	7185714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.514000	0.73746	2.167000	0.68274	0.528000	0.53228	ACC		0.423	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			G	7240715	A	G	7240715	1	3	181	0	1	0	0	0	0	0	0	0	13682	391	14	4		4	RREB1	6	7240715	Intron	SNP	A	TCGA-23-1110-01A-01D-0428-08		7240715	163874352	34	10227											
VARS2	57176	broad.mit.edu	37	6	30890956	30890956	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr6:30890956G>T	ENST00000321897.5	+	23	2893	c.2261G>T	c.(2260-2262)cGc>cTc	p.R754L	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.R754L|VARS2_ENST00000542001.1_Missense_Mutation_p.R614L|VARS2_ENST00000541562.1_Missense_Mutation_p.R784L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	754					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R754L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AATGCTCTTCGCTTTATCCTC	0.517																																																1	Substitution - Missense(1)	ovary(1)	6											110	120	117					6																	30890956		1510	2708	4218	30998935	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2261G>T	6.37:g.30890956G>T	ENSP00000316092:p.Arg754Leu		30998935	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990592	0.74589	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.24	5.24	0.73138	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.103673	0.64402	D	0.000008	T	0.47340	0.1440	H	0.94385	3.53	0.46396	D	0.999029	P;D;D;D	0.76494	0.947;0.998;0.999;0.991	P;D;D;P	0.73380	0.791;0.955;0.98;0.664	T	0.59590	-0.7426	10	0.87932	D	0	-22.003	10.1833	0.42982	0.0915:0.0:0.9085:0.0	.	192;752;784;754	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	L	754;754;614;784	ENSP00000316092:R754L;ENSP00000394802:R754L;ENSP00000438200:R614L;ENSP00000441000:R784L	ENSP00000316092:R754L	R	+	2	0	VARS2	30998935	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.224000	0.51238	2.618000	0.88619	0.462000	0.41574	CGC		0.517	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		T	30890956	G	T	30890956	3	4	181	1	0	0	0	0	1	0	0	0	17124	1087	38	3	2445	3	VARS2	6	30890956	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	23650241	30890956	140224111	35	10228											
TFEB	7942	broad.mit.edu	37	6	41655674	41655674	+	Silent	SNP	C	C	G	rs202071361		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr6:41655674C>G	ENST00000230323.4	-	6	943	c.642G>C	c.(640-642)gcG>gcC	p.A214A	TFEB_ENST00000358871.2_Silent_p.A228A|TFEB_ENST00000373033.1_Silent_p.A214A|TFEB_ENST00000420312.1_Silent_p.A129A|TFEB_ENST00000394283.1_Silent_p.A214A|TFEB_ENST00000403298.4_Silent_p.A214A	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	214					autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A214A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGTCAGGTCCGCAGGGCAGG	0.637			T	ALPHA	renal (childhood epithelioid)																																		Dom	yes		6	6p21	7942	transcription factor EB		"E,M"	1	Substitution - coding silent(1)	ovary(1)	6											78	75	76					6																	41655674		2203	4300	6503	41763652	SO:0001819	synonymous_variant	7942			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"Basic helix-loop-helix proteins"	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.642G>C	6.37:g.41655674C>G			41763652	Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Silent	SNP	ENST00000230323.4	37	CCDS4858.1																																																																																				0.637	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			G	41655674	C	G	41655674	2	3	181	1	0	0	0	0	0	0	0	1	15801	639	23	3		3	TFEB	6	41655674	Silent	SNP	C	TCGA-23-1110-01A-01D-0428-08	10764718	41655674	129459393	36	10229											
PTPRK	5796	broad.mit.edu	37	6	128298168	128298168	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr6:128298168G>T	ENST00000368215.3	-	26	3739	c.3740C>A	c.(3739-3741)aCa>aAa	p.T1247K	PTPRK_ENST00000532331.1_Missense_Mutation_p.T1270K|PTPRK_ENST00000368227.3_Missense_Mutation_p.T1265K|PTPRK_ENST00000368207.3_Missense_Mutation_p.T1280K|PTPRK_ENST00000368226.4_Missense_Mutation_p.T1248K|PTPRK_ENST00000368210.3_Missense_Mutation_p.T1266K|PTPRK_ENST00000368213.5_Missense_Mutation_p.T1254K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1247	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T1248K(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGGTATTGTGTGACGATGAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	6											143	129	134					6																	128298168		2203	4300	6503	128339861	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3740C>A	6.37:g.128298168G>T	ENSP00000357198:p.Thr1247Lys		128339861	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	G	31	5.088155	0.94100	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.69	5.69	0.88448	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	H	0.98951	4.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	1.0;1.0;0.997;0.994	D	0.97742	1.0209	10	0.87932	D	0	.	20.1608	0.98132	0.0:0.0:1.0:0.0	.	1270;1254;1247;1248	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	K	1248;1265;1270;1254;1266;1247;1280	ENSP00000357209:T1248K;ENSP00000357210:T1265K;ENSP00000432973:T1270K;ENSP00000357196:T1254K;ENSP00000357193:T1266K;ENSP00000357198:T1247K;ENSP00000357190:T1280K	ENSP00000357190:T1280K	T	-	2	0	PTPRK	128339861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.843000	0.97960	0.591000	0.81541	ACA		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			T	128298168	G	T	128298168	3	4	181	1	0	0	0	0	1	0	0	0	12808	1377	48	3	599	3	PTPRK	6	128298168	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	86642494	128298168	42816899	37	10230											
UTRN	7402	broad.mit.edu	37	6	144772594	144772594	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr6:144772594A>G	ENST00000367545.3	+	17	2161	c.2161A>G	c.(2161-2163)Atg>Gtg	p.M721V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	721	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.M721V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTATATGAAGATGCAAGACAC	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											100	95	96					6																	144772594		2203	4300	6503	144814287	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2161A>G	6.37:g.144772594A>G	ENSP00000356515:p.Met721Val		144814287	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	5.694	0.312636	0.10789	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.58797	0.31	5.99	4.81	0.61882	.	0.374408	0.22871	N	0.054632	T	0.29158	0.0725	L	0.36672	1.1	0.80722	D	1	B	0.14805	0.011	B	0.10450	0.005	T	0.09122	-1.0689	10	0.26408	T	0.33	.	12.2395	0.54534	0.8689:0.0:0.0:0.1311	.	721	P46939	UTRO_HUMAN	V	721	ENSP00000356515:M721V	ENSP00000356499:M721V	M	+	1	0	UTRN	144814287	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	3.628000	0.54259	1.048000	0.40298	0.533000	0.62120	ATG		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	144772594	A	G	144772594	3	3	181	1	0	0	0	0	1	0	0	0	17103	333	12	4	2227	4	UTRN	6	144772594	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	16474426	144772594	26342473	38	10231											
GPER	2852	broad.mit.edu	37	7	1131801	1131801	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr7:1131801T>A	ENST00000297469.3	+	2	1128	c.437T>A	c.(436-438)tTc>tAc	p.F146Y	C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.F146Y|GPER1_ENST00000397092.1_Missense_Mutation_p.F146Y|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.F146Y	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	146				NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736). {ECO:0000305}.	apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)	p.F146Y(1)									AGCAGCGTCTTCTTCCTCACC	0.607																																																1	Substitution - Missense(1)	ovary(1)	7											139	101	114					7																	1131801		2203	4300	6503	1098327	SO:0001583	missense	2852			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.437T>A	7.37:g.1131801T>A	ENSP00000297469:p.Phe146Tyr		1098327	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.032586	0.93575	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.61417	-0.7067	10	0.66056	D	0.02	-31.8486	14.3613	0.66773	0.0:0.0:0.0:1.0	.	146	Q99527	GPER_HUMAN	Y	146	ENSP00000385151:F146Y;ENSP00000380281:F146Y;ENSP00000297469:F146Y;ENSP00000380277:F146Y	ENSP00000297469:F146Y	F	+	2	0	GPER	1098327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	1.996000	0.58369	0.523000	0.50628	TTC		0.607	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		A	1131801	T	A	1131801	3	1	181	1	0	0	0	0	1	0	0	0	6607	1783	62	5	439	5	GPER	7	1131801	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08		1131801	158006862	39	10232											
CDK13	8621	broad.mit.edu	37	7	40127843	40127843	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr7:40127843G>T	ENST00000181839.4	+	12	3753	c.3148G>T	c.(3148-3150)Ggc>Tgc	p.G1050C	CDK13_ENST00000340829.5_Missense_Mutation_p.G1050C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1050					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.G1050C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTTGTCTCTGGGCTTGGATGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	7											91	83	86					7																	40127843		2203	4300	6503	40094368	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3148G>T	7.37:g.40127843G>T	ENSP00000181839:p.Gly1050Cys		40094368	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942456	0.92526	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.73047	-0.71;-0.63	5.43	5.43	0.79202	.	.	.	.	.	T	0.81903	0.4921	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.939	T	0.79657	-0.1712	8	.	.	.	-10.8689	19.6396	0.95753	0.0:0.0:1.0:0.0	.	1050;1050	Q14004-2;Q14004	.;CDK13_HUMAN	C	1050	ENSP00000181839:G1050C;ENSP00000340557:G1050C	.	G	+	1	0	CDK13	40094368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.718000	0.92993	0.650000	0.86243	GGC		0.488	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		T	40127843	G	T	40127843	3	4	181	1	0	0	0	0	1	0	0	0	3129	1232	43	3	3194	3	CDK13	7	40127843	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	38996042	40127843	119010820	40	10233											
MUC17	140453	broad.mit.edu	37	7	100686648	100686648	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr7:100686648C>A	ENST00000306151.4	+	3	12015	c.11951C>A	c.(11950-11952)tCt>tAt	p.S3984Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3984					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S3984Y(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACCACATCTTTTTCAACT	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											140	138	139					7																	100686648		2203	4300	6503	100473368	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11951C>A	7.37:g.100686648C>A	ENSP00000302716:p.Ser3984Tyr		100473368	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	8.106	0.777676	0.16120	.	.	ENSG00000169876	ENST00000306151	T	0.01981	4.52	1.43	-1.99	0.07457	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	P	0.42078	0.77	P	0.46253	0.509	T	0.46034	-0.9220	9	0.24483	T	0.36	.	2.8449	0.05540	0.3061:0.3887:0.3052:0.0	.	3984	Q685J3	MUC17_HUMAN	Y	3984	ENSP00000302716:S3984Y	ENSP00000302716:S3984Y	S	+	2	0	MUC17	100473368	0.000000	0.05858	0.007000	0.13788	0.536000	0.34869	-0.249000	0.08842	-0.108000	0.12066	0.424000	0.28305	TCT		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100686648	C	A	100686648	3	1	181	1	0	0	0	0	1	0	0	0	9974	913	32	3	11961	3	MUC17	7	100686648	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	60558805	100686648	58452015	41	10234											
MLL3	58508	broad.mit.edu	37	7	151878644	151878644	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr7:151878644G>C	ENST00000262189.6	-	36	6519	c.6301C>G	c.(6301-6303)Cca>Gca	p.P2101A	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2101A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2101	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P2101A(1)									GCTGGATGTGGGGTAAGGGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	7											94	94	94					7																	151878644		2203	4300	6503	151509577	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6301C>G	7.37:g.151878644G>C	ENSP00000262189:p.Pro2101Ala		151509577	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	5.365	0.252637	0.10185	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.96619	-4.02;-4.07	5.38	4.5	0.54988	.	0.000000	0.44688	D	0.000425	D	0.97579	0.9207	M	0.72894	2.215	0.80722	D	1	P;D	0.89917	0.91;1.0	B;D	0.85130	0.388;0.997	D	0.97948	1.0330	10	0.72032	D	0.01	.	13.3327	0.60497	0.0:0.0:0.7127:0.2873	.	2101;1162	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	A	2101	ENSP00000262189:P2101A;ENSP00000347325:P2101A	ENSP00000262189:P2101A	P	-	1	0	MLL3	151509577	1.000000	0.71417	0.443000	0.26883	0.076000	0.17211	5.530000	0.67141	1.275000	0.44379	-0.261000	0.10672	CCA		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151878644	G	C	151878644	3	2	181	1	0	0	0	0	1	0	0	0	9622	1232	43	3	8530	3	MLL3	7	151878644	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	51191996	151878644	7260019	42	10235											
MYOM2	9172	broad.mit.edu	37	8	2088796	2088796	+	Missense_Mutation	SNP	C	C	A	rs568923144		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr8:2088796C>A	ENST00000262113.4	+	33	4092	c.3951C>A	c.(3949-3951)gaC>gaA	p.D1317E	MYOM2_ENST00000523438.1_Missense_Mutation_p.D742E|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1317					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D1317E(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCTCCCTTGACCTGTCCGGAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	8											85	78	80					8																	2088796		2203	4300	6503	2076203	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3951C>A	8.37:g.2088796C>A	ENSP00000262113:p.Asp1317Glu		2076203	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733794	0.48939	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.52526	0.66;0.83	5.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	L	0.57536	1.79	0.39744	D	0.971781	D	0.71674	0.998	P	0.58013	0.831	T	0.56408	-0.7984	10	0.46703	T	0.11	.	3.3123	0.07021	0.0:0.6091:0.0:0.3909	.	1317	P54296	MYOM2_HUMAN	E	1317;742	ENSP00000262113:D1317E;ENSP00000428396:D742E	ENSP00000262113:D1317E	D	+	3	2	MYOM2	2076203	1.000000	0.71417	0.994000	0.49952	0.211000	0.24417	1.821000	0.39041	2.385000	0.81259	0.563000	0.77884	GAC		0.393	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2088796	C	A	2088796	3	1	181	1	0	0	0	0	1	0	0	0	10092	506	18	3	4077	3	MYOM2	8	2088796	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08		2088796	144275226	43	10236											
PTK2B	2185	broad.mit.edu	37	8	27303406	27303406	+	Silent	SNP	G	G	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr8:27303406G>T	ENST00000397501.1	+	29	3118	c.2310G>T	c.(2308-2310)cgG>cgT	p.R770R	PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000338238.4_Intron|PTK2B_ENST00000544172.1_Silent_p.R770R|PTK2B_ENST00000346049.5_Silent_p.R770R|PTK2B_ENST00000397497.4_Intron	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	770					activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.R770R(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTCTCCACCGGCACAATGTCT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	8											139	123	129					8																	27303406		2203	4300	6503	27359323	SO:0001819	synonymous_variant	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2310G>T	8.37:g.27303406G>T			27359323	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	CCDS6057.1																																																																																				0.607	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		T	27303406	G	T	27303406	2	4	181	1	0	0	0	0	0	0	0	1	12766	1190	42	3		3	PTK2B	8	27303406	Silent	SNP	G	TCGA-23-1110-01A-01D-0428-08	25214610	27303406	119060616	44	10237											
KCNU1	157855	broad.mit.edu	37	8	36692362	36692362	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr8:36692362C>T	ENST00000399881.3	+	12	1308	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	424	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A424V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATTCCCATGCTGAAGATATT	0.388																																																1	Substitution - Missense(1)	ovary(1)	8											129	127	127					8																	36692362		1889	4116	6005	36811520	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1271C>T	8.37:g.36692362C>T	ENSP00000382770:p.Ala424Val		36811520		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.847090	0.32606	.	.	ENSG00000215262	ENST00000399881	T	0.37752	1.18	5.9	3.01	0.34805	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.422650	0.16743	U	0.201346	T	0.30355	0.0762	L	0.61218	1.895	0.80722	D	1	D	0.53619	0.961	B	0.36244	0.22	T	0.17623	-1.0363	10	0.72032	D	0.01	-3.7167	9.0239	0.36218	0.2675:0.6621:0.0:0.0704	.	424	A8MYU2	KCNU1_HUMAN	V	424	ENSP00000382770:A424V	ENSP00000382770:A424V	A	+	2	0	KCNU1	36811520	0.903000	0.30736	0.871000	0.34182	0.016000	0.09150	0.917000	0.28665	0.757000	0.33036	0.650000	0.86243	GCT		0.388	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		T	36692362	C	T	36692362	3	4	181	1	0	0	0	0	1	0	0	0	8093	797	28	2	1317	2	KCNU1	8	36692362	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	9388956	36692362	109671660	45	10238											
GPR124	25960	broad.mit.edu	37	8	37697734	37697734	+	Silent	SNP	C	C	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr8:37697734C>G	ENST00000412232.2	+	17	2620	c.2607C>G	c.(2605-2607)ccC>ccG	p.P869P	GPR124_ENST00000315215.7_Silent_p.P652P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	869					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P862P(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGAGGGCACCCCCTCCGCAAG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	8											71	61	64					8																	37697734		2203	4300	6503	37816892	SO:0001819	synonymous_variant	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2607C>G	8.37:g.37697734C>G			37816892	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																				0.607	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			G	37697734	C	G	37697734	2	3	181	1	0	0	0	0	0	0	0	1	6638	610	22	3		3	GPR124	8	37697734	Silent	SNP	C	TCGA-23-1110-01A-01D-0428-08	1005372	37697734	108666288	46	10239											
TGS1	96764	broad.mit.edu	37	8	56723473	56723473	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr8:56723473C>G	ENST00000260129.5	+	11	2654	c.2177C>G	c.(2176-2178)gCc>gGc	p.A726G		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	726	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.A726G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GTTAAGATTGCCCTTGCTCGC	0.353																																					Esophageal Squamous(34;275 823 4842 34837 48447)											1	Substitution - Missense(1)	ovary(1)	8											206	208	207					8																	56723473		2203	4300	6503	56886027	SO:0001583	missense	96764			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2177C>G	8.37:g.56723473C>G	ENSP00000260129:p.Ala726Gly		56886027	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154418	0.38021	.	.	ENSG00000137574	ENST00000260129	T	0.54071	0.59	5.57	4.42	0.53409	.	0.269103	0.39985	N	0.001217	T	0.43567	0.1253	L	0.56199	1.76	0.34370	D	0.691899	B	0.09022	0.002	B	0.13407	0.009	T	0.49485	-0.8935	10	0.34782	T	0.22	-21.6624	5.8816	0.18858	0.7161:0.1743:0.1096:0.0	.	726	Q96RS0	TGS1_HUMAN	G	726	ENSP00000260129:A726G	ENSP00000260129:A726G	A	+	2	0	TGS1	56886027	0.985000	0.35326	1.000000	0.80357	0.982000	0.71751	2.459000	0.45023	0.952000	0.37798	-0.262000	0.10625	GCC		0.353	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		G	56723473	C	G	56723473	3	3	181	1	0	0	0	0	1	0	0	0	15837	739	26	3	2219	3	TGS1	8	56723473	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	19025739	56723473	89640549	47	10240											
MOS	4342	broad.mit.edu	37	8	57025501	57025501	+	Splice_Site	SNP	T	T	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr8:57025501T>A	ENST00000311923.1	-	1	1040	c.1041A>T	c.(1039-1041)tgA>tgT	p.*347C		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	0					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.*347C(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGTTTTCAGTCAGCCGAGTT	0.483																																					Esophageal Squamous(124;373 2870 4778)											1	Nonstop extension(1)	ovary(1)	8											25	27	26					8																	57025501		2203	4300	6503	57188055	SO:0001630	splice_region_variant	4342				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.1038+1A>T	8.37:g.57025501T>A			57188055	Q3KPG9|Q3KPH0	Nonstop_Mutation	SNP	ENST00000311923.1	37	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709854	0.48517	.	.	ENSG00000172680	ENST00000311923	.	.	.	5.8	0.388	0.16264	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8563	0.01183	0.1576:0.1833:0.1638:0.4953	.	.	.	.	C	347	.	.	X	-	3	0	MOS	57188055	0.001000	0.12720	0.004000	0.12327	0.175000	0.22909	0.103000	0.15292	0.422000	0.26005	0.459000	0.35465	TGA		0.483	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372	Nonstop_Mutation	A	57025501	T	A	57025501	5	1	181	1	0	0	0	0	0	0	1	0	9712	1682	58	5	2	5	MOS	8	57025501	Splice_Site	SNP	T	TCGA-23-1110-01A-01D-0428-08	302028	57025501	89338521	48	10241											
CA1	759	broad.mit.edu	37	8	86245847	86245847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	-	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr8:86245847delA	ENST00000523953.1	-	6	1403	c.357delT	c.(355-357)cttfs	p.L119fs	CA1_ENST00000518341.1_5'UTR|CA1_ENST00000542576.1_Frame_Shift_Del_p.L119fs|CA1_ENST00000432364.2_Frame_Shift_Del_p.L119fs|CA1_ENST00000523022.1_Frame_Shift_Del_p.L119fs|CA1_ENST00000431316.1_Frame_Shift_Del_p.L119fs|CA1_ENST00000522389.1_Frame_Shift_Del_p.L6fs|CA1_ENST00000256119.5_Frame_Shift_Del_p.L119fs			P00915	CAH1_HUMAN	carbonic anhydrase I	119					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.H120fs*2(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GAGCTACGTGAAGCTAAAAAT	0.363																																																1	Deletion - Frameshift(1)	ovary(1)	8											76	72	74					8																	86245847		2203	4300	6503	86433099	SO:0001589	frameshift_variant	759			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"Carbonic anhydrases"	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.357delT	8.37:g.86245847delA	ENSP00000430656:p.Leu119fs		86433099		Frame_Shift_Del	DEL	ENST00000523953.1	37	CCDS6237.1																																																																																				0.363	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		-	86245847	A	-	86245847	7	5	181	1	0	1	0	1	0	0	0	0	2510	233	9	0	444	0	CA1	8	86245847	Frame_Shift_Del	DEL	A	TCGA-23-1110-01A-01D-0428-08	29220346	86245847	60118175	49	10242											
LRRC6	23639	broad.mit.edu	37	8	133637631	133637631	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr8:133637631G>T	ENST00000519595.1	-	6	821	c.723C>A	c.(721-723)gaC>gaA	p.D241E	LRRC6_ENST00000518642.1_Missense_Mutation_p.D241E|LRRC6_ENST00000250173.1_Missense_Mutation_p.D241E|LRRC6_ENST00000520446.1_5'UTR			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	241					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D241E(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTCACTGTTGTCTAATTTCT	0.388																																																1	Substitution - Missense(1)	ovary(1)	8											208	202	204					8																	133637631		2203	4300	6503	133706813	SO:0001583	missense	23639			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.723C>A	8.37:g.133637631G>T	ENSP00000429791:p.Asp241Glu		133706813	Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37		.	.	.	.	.	.	.	.	.	.	G	8.639	0.895539	0.17686	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T;T	0.52526	0.83;0.84;0.66;0.83	4.34	-4.85	0.03142	.	0.999417	0.08096	N	0.998636	T	0.20495	0.0493	N	0.13235	0.315	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35001	-0.9806	10	0.02654	T	1	-0.9799	6.0938	0.20008	0.3358:0.3067:0.3575:0.0	.	241	Q86X45	LRRC6_HUMAN	E	241;1;241;241;241	ENSP00000429791:D241E;ENSP00000428015:D1E;ENSP00000428610:D241E;ENSP00000250173:D241E	ENSP00000250173:D241E	D	-	3	2	LRRC6	133706813	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.425000	0.07017	-0.632000	0.05553	-0.323000	0.08544	GAC		0.388	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		T	133637631	G	T	133637631	3	4	181	1	0	0	0	0	1	0	0	0	9016	1368	48	3	705	3	LRRC6	8	133637631	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	47391784	133637631	12726391	50	10243											
RFX3	5991	broad.mit.edu	37	9	3330481	3330481	+	Missense_Mutation	SNP	C	C	T	rs370801268		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr9:3330481C>T	ENST00000382004.3	-	5	563	c.252G>A	c.(250-252)atG>atA	p.M84I	RFX3_ENST00000302303.1_Missense_Mutation_p.M84I|RFX3_ENST00000358730.2_Missense_Mutation_p.M84I	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	84					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M84I(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTGGCTGTACATCTGTGTCT	0.408																																																1	Substitution - Missense(1)	ovary(1)	9						C	ILE/MET,ILE/MET	0,4406		0,0,2203	105	99	101		252,252	5.5	1	9		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFX3	NM_002919.2,NM_134428.1	10,10	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	84/708,84/750	3330481	1,13005	2203	4300	6503	3320481	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.252G>A	9.37:g.3330481C>T	ENSP00000371434:p.Met84Ile		3320481	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035043	0.35893	0.0	1.16E-4	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373;ENST00000451859;ENST00000442560;ENST00000420720;ENST00000381985;ENST00000449190	T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.5	5.5	0.81552	RFX1 transcription activation region (1);	0.043366	0.85682	D	0.000000	T	0.13243	0.0321	N	0.03050	-0.425	0.44241	D	0.997081	B;B;B;B	0.16802	0.003;0.019;0.003;0.003	B;B;B;B	0.14023	0.007;0.01;0.006;0.01	T	0.18681	-1.0329	10	0.16896	T	0.51	-20.8715	19.3658	0.94461	0.0:1.0:0.0:0.0	.	84;84;84;84	B1ANP5;P48380-3;P48380-2;P48380	.;.;.;RFX3_HUMAN	I	84;84;84;84;84;84;45;45;84;84	ENSP00000371434:M84I;ENSP00000351574:M84I;ENSP00000303847:M84I;ENSP00000405664:M84I;ENSP00000411756:M84I;ENSP00000410988:M45I;ENSP00000416189:M45I;ENSP00000399352:M84I	ENSP00000303847:M84I	M	-	3	0	RFX3	3320481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.516000	0.53436	2.737000	0.93849	0.563000	0.77884	ATG		0.408	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		T	3330481	C	T	3330481	3	4	181	1	0	0	0	0	1	0	0	0	13267	478	17	2	2209	2	RFX3	9	3330481	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08		3330481	137882950	51	10244											
DDX58	23586	broad.mit.edu	37	9	32487984	32487984	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr9:32487984G>C	ENST00000379883.2	-	8	1328	c.1171C>G	c.(1171-1173)Cta>Gta	p.L391V	DDX58_ENST00000379868.1_Missense_Mutation_p.L188V|DDX58_ENST00000545044.1_Missense_Mutation_p.L188V|DDX58_ENST00000379882.1_Missense_Mutation_p.L346V|DDX58_ENST00000542096.1_Missense_Mutation_p.L320V	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	391	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.L391V(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTCTGATCTAGATAATTAAAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											143	152	149					9																	32487984		2203	4300	6503	32477984	SO:0001583	missense	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1171C>G	9.37:g.32487984G>C	ENSP00000369213:p.Leu391Val		32477984	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272879	0.59649	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	4.73	2.48	0.30137	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.49305	D	0.000155	T	0.28234	0.0697	L	0.58101	1.795	0.31292	N	0.689261	D;P;D;D	0.71674	0.997;0.589;0.979;0.998	D;B;D;D	0.73380	0.92;0.365;0.957;0.98	T	0.14172	-1.0482	10	0.27082	T	0.32	-8.6428	4.6341	0.12516	0.442:0.0:0.558:0.0	.	188;346;320;391	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	V	346;391;188;320;188	ENSP00000369212:L346V;ENSP00000369213:L391V;ENSP00000369197:L188V;ENSP00000442160:L320V;ENSP00000443055:L188V	ENSP00000369197:L188V	L	-	1	2	DDX58	32477984	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.462000	0.35266	1.137000	0.42214	0.455000	0.32223	CTA		0.393	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		C	32487984	G	C	32487984	3	2	181	1	0	0	0	0	1	0	0	0	4375	933	33	3	1650	3	DDX58	9	32487984	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	29157503	32487984	108725447	52	10245											
SMU1	55234	broad.mit.edu	37	9	33076580	33076580	+	Splice_Site	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr9:33076580C>T	ENST00000397149.3	-	1	77		c.e1+1		SMU1_ENST00000536631.1_Splice_Site	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GCAGGACTCACTCCGAAGATT	0.642																																																1	Unknown(1)	ovary(1)	9											111	101	104					9																	33076580		2203	4300	6503	33066580	SO:0001630	splice_region_variant	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.26+1G>A	9.37:g.33076580C>T			33066580	B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Splice_Site	SNP	ENST00000397149.3	37	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923243	0.73213	.	.	ENSG00000122692	ENST00000397149	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7486	0.69508	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMU1	33066580	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.561000	0.60809	2.767000	0.95098	0.650000	0.86243	.		0.642	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225	Intron	T	33076580	C	T	33076580	5	4	181	1	0	0	0	0	0	0	1	0	14820	579	20	2	1562	2	SMU1	9	33076580	Splice_Site	SNP	C	TCGA-23-1110-01A-01D-0428-08	588596	33076580	108136851	53	10246											
ANKS6	203286	broad.mit.edu	37	9	101530427	101530427	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr9:101530427G>C	ENST00000353234.4	-	11	2125	c.2078C>G	c.(2077-2079)gCa>gGa	p.A693G	ANKS6_ENST00000540940.1_Missense_Mutation_p.A498G|ANKS6_ENST00000375018.1_Missense_Mutation_p.A693G|ANKS6_ENST00000375019.2_Missense_Mutation_p.A392G			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	693	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)		p.A693G(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGACCCCGGTGCTGGCCCCAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	9											35	42	40					9																	101530427		2080	4212	6292	100570248	SO:0001583	missense	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2078C>G	9.37:g.101530427G>C	ENSP00000297837:p.Ala693Gly		100570248	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.722467|4.722467	0.89298|0.89298	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.69685|.	1.76;-0.4;-0.42;2.01|.	5.79|5.79	3.94|3.94	0.45596|0.45596	.|.	0.395400|.	0.31461|.	N|.	0.007605|.	T|T	0.44519|0.44519	0.1297|0.1297	L|L	0.54323|0.54323	1.7|1.7	0.24203|0.24203	N|N	0.995508|0.995508	P;P|.	0.49559|.	0.925;0.877|.	P;B|.	0.49597|.	0.616;0.411|.	T|T	0.29640|0.29640	-1.0005|-1.0005	10|5	0.35671|.	T|.	0.21|.	-10.7606|-10.7606	9.4237|9.4237	0.38567|0.38567	0.1692:0.0:0.8308:0.0|0.1692:0.0:0.8308:0.0	.|.	693;693|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	G|R	392;693;693;498|161	ENSP00000364159:A392G;ENSP00000364158:A693G;ENSP00000297837:A693G;ENSP00000442189:A498G|.	ENSP00000297837:A693G|.	A|S	-|-	2|3	0|2	ANKS6|ANKS6	100570248|100570248	0.018000|0.018000	0.18449|0.18449	0.174000|0.174000	0.22961|0.22961	0.610000|0.610000	0.37248|0.37248	1.041000|1.041000	0.30291|0.30291	1.460000|1.460000	0.47911|0.47911	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.582	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		C	101530427	G	C	101530427	3	2	181	1	0	0	0	0	1	0	0	0	692	1319	46	3	557	3	ANKS6	9	101530427	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	68453847	101530427	39683004	54	10247											
NR6A1	2649	broad.mit.edu	37	9	127316808	127316808	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr9:127316808T>A	ENST00000487099.2	-	3	341	c.184A>T	c.(184-186)Att>Ttt	p.I62F	NR6A1_ENST00000416460.2_Missense_Mutation_p.I58F|NR6A1_ENST00000373584.3_Missense_Mutation_p.I58F|NR6A1_ENST00000344523.4_Missense_Mutation_p.I62F	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	62					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.I62F(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TCCCCACAAATGAGACAGGTT	0.463																																					Esophageal Squamous(192;272 2884 6208 20560)											1	Substitution - Missense(1)	ovary(1)	9											98	91	93					9																	127316808		2203	4300	6503	126356629	SO:0001583	missense	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.184A>T	9.37:g.127316808T>A	ENSP00000420267:p.Ile62Phe		126356629	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330214	0.81690	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57	5.57	4.42	0.53409	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.99113	1.0847	10	0.87932	D	0	.	12.0832	0.53682	0.0:0.0:0.144:0.856	.	58;62;58	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	F	62;58;58;62;20	ENSP00000420267:I62F;ENSP00000362686:I58F;ENSP00000413701:I58F;ENSP00000341135:I62F;ENSP00000420587:I20F	ENSP00000341135:I62F	I	-	1	0	NR6A1	126356629	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.968000	0.70413	0.926000	0.37118	0.460000	0.39030	ATT		0.463	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			A	127316808	T	A	127316808	3	1	181	1	0	0	0	0	1	0	0	0	10637	1464	51	5	1290	5	NR6A1	9	127316808	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	25786381	127316808	13896623	55	10248											
MAPKAP1	79109	broad.mit.edu	37	9	128434612	128434612	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr9:128434612C>G	ENST00000373498.1	-	1	310	c.242G>C	c.(241-243)aGa>aCa	p.R81T	MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.R81T|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.R81T|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.R81T|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.R81T|MAPKAP1_ENST00000373503.3_Intron			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	81	Interaction with MAP3K2.|Interaction with NBN.			WDFGIRRRSNT -> ADPARSVEAAS (in Ref. 9; AAA36551). {ECO:0000305}.	epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.R81T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGAGCGTCTTCTAATACCAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											116	96	103					9																	128434612		2203	4300	6503	127474433	SO:0001583	missense	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.242G>C	9.37:g.128434612C>G	ENSP00000362597:p.Arg81Thr		127474433	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429179	0.83776	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000373505;ENST00000394060;ENST00000433483	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.81942	2.565	0.80722	D	1	D;D;P;P	0.89917	1.0;0.957;0.663;0.911	D;P;B;P	0.85130	0.997;0.526;0.323;0.64	T	0.82922	-0.0217	9	0.46703	T	0.11	-6.2619	20.0608	0.97674	0.0:1.0:0.0:0.0	.	81;81;81;81	Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	T	81;81;81;81;36;81;81	.	ENSP00000265960:R81T	R	-	2	0	MAPKAP1	127474433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.280000	0.78610	2.733000	0.93635	0.650000	0.86243	AGA		0.408	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			G	128434612	C	G	128434612	3	3	181	1	0	0	0	0	1	0	0	0	9288	913	32	3	1388	3	MAPKAP1	9	128434612	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	1117804	128434612	12778819	56	10249											
DIP2C	22982	broad.mit.edu	37	10	436258	436258	+	Silent	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr10:436258G>C	ENST00000280886.6	-	12	1527	c.1440C>G	c.(1438-1440)ccC>ccG	p.P480P	DIP2C_ENST00000381496.3_Silent_p.P373P	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	480						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P480P(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACCAGTCTCGGGGCGGTTTGG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	10											128	126	127					10																	436258		2203	4300	6503	426258	SO:0001819	synonymous_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1440C>G	10.37:g.436258G>C			426258	B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1																																																																																				0.478	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		C	436258	G	C	436258	2	2	181	1	0	0	0	0	0	0	0	1	4529	1219	43	3		3	DIP2C	10	436258	Silent	SNP	G	TCGA-23-1110-01A-01D-0428-08		436258	135098489	57	10250											
CUBN	8029	broad.mit.edu	37	10	17145125	17145125	+	Splice_Site	SNP	T	T	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr10:17145125T>G	ENST00000377833.4	-	13	1594	c.1529A>C	c.(1528-1530)aAg>aCg	p.K510T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	510	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.K510T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACATTTACCTTTCCCATTTC	0.328																																																1	Substitution - Missense(1)	ovary(1)	10											87	84	85					10																	17145125		2203	4300	6503	17185131	SO:0001630	splice_region_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1530+1A>C	10.37:g.17145125T>G			17185131	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081884	0.55861	.	.	ENSG00000107611	ENST00000377833	T	0.59906	0.23	5.65	5.65	0.86999	CUB (5);	0.000000	0.46758	D	0.000263	T	0.75591	0.3870	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.77056	-0.2729	10	0.49607	T	0.09	.	15.8914	0.79303	0.0:0.0:0.0:1.0	.	510	O60494	CUBN_HUMAN	T	510	ENSP00000367064:K510T	ENSP00000367064:K510T	K	-	2	0	CUBN	17185131	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	6.173000	0.71937	2.154000	0.67381	0.528000	0.53228	AAG		0.328	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Missense_Mutation	G	17145125	T	G	17145125	5	3	181	1	0	0	0	0	0	0	1	0	4051	1623	56	5	9562	5	CUBN	10	17145125	Splice_Site	SNP	T	TCGA-23-1110-01A-01D-0428-08	16708867	17145125	118389622	58	10251											
ZNF365	22891	broad.mit.edu	37	10	64136256	64136256	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr10:64136256T>C	ENST00000395254.3	+	2	584	c.304T>C	c.(304-306)Tac>Cac	p.Y102H	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Missense_Mutation_p.Y102H|ZNF365_ENST00000410046.3_Missense_Mutation_p.Y102H	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	61								p.Y102H(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGTTAACTTGTACAGCATTTC	0.493																																																1	Substitution - Missense(1)	ovary(1)	10											127	111	116					10																	64136256		2203	4300	6503	63806262	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.304T>C	10.37:g.64136256T>C	ENSP00000378674:p.Tyr102His		63806262		Missense_Mutation	SNP	ENST00000395254.3	37	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	T	6.879	0.531591	0.13127	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35605	1.3;1.3;1.3	5.61	5.61	0.85477	.	1.157610	0.06314	N	0.703224	T	0.28001	0.0690	L	0.38175	1.15	0.58432	D	0.999997	B;B;B;B	0.29432	0.244;0.019;0.019;0.019	B;B;B;B	0.22753	0.041;0.018;0.012;0.018	T	0.11867	-1.0570	10	0.15952	T	0.53	-2.1542	7.4495	0.27229	0.0:0.0724:0.1441:0.7835	.	102;102;102;117	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	H	102	ENSP00000378674:Y102H;ENSP00000378675:Y102H;ENSP00000387091:Y102H	ENSP00000378674:Y102H	Y	+	1	0	ZNF365	63806262	0.999000	0.42202	1.000000	0.80357	0.822000	0.46500	3.411000	0.52672	2.138000	0.66242	0.454000	0.30748	TAC		0.493	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		C	64136256	T	C	64136256	3	2	181	1	0	0	0	0	1	0	0	0	17869	1638	57	4	306	4	ZNF365	10	64136256	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	46991131	64136256	71398491	59	10252											
JMJD1C	221037	broad.mit.edu	37	10	64944406	64944406	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr10:64944406A>T	ENST00000399262.2	-	21	7141	c.6923T>A	c.(6922-6924)gTa>gAa	p.V2308E	JMJD1C_ENST00000542921.1_Missense_Mutation_p.V2126E|JMJD1C_ENST00000402544.1_Missense_Mutation_p.V2071E|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2308	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.V2071E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATCAGGACGTACAAAAAATCC	0.358																																																1	Substitution - Missense(1)	ovary(1)	10											100	98	98					10																	64944406		1834	4080	5914	64614412	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6923T>A	10.37:g.64944406A>T	ENSP00000382204:p.Val2308Glu		64614412	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.226229|4.226229	0.79576|0.79576	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	D;D;D|.	0.83992|.	-1.79;-1.79;-1.79|.	5.96|5.96	4.81|4.81	0.61882|0.61882	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63861|0.63861	0.2547|0.2547	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.997|.	D;D;D|.	0.81914|.	0.995;0.995;0.92|.	T|T	0.61073|0.61073	-0.7136|-0.7136	10|5	0.72032|.	D|.	0.01|.	-14.127|-14.127	13.0011|13.0011	0.58676|0.58676	0.8649:0.1351:0.0:0.0|0.8649:0.1351:0.0:0.0	.|.	2126;2308;2126|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	E|N	2308;2071;2126|855	ENSP00000382204:V2308E;ENSP00000384990:V2071E;ENSP00000444682:V2126E|.	ENSP00000382204:V2308E|.	V|Y	-|-	2|1	0|0	JMJD1C|JMJD1C	64614412|64614412	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.860000|0.860000	0.49131|0.49131	9.307000|9.307000	0.96226|0.96226	1.056000|1.056000	0.40484|0.40484	-0.446000|-0.446000	0.05623|0.05623	GTA|TAC		0.358	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		T	64944406	A	T	64944406	3	4	181	1	0	0	0	0	1	0	0	0	7950	391	14	5	723	5	JMJD1C	10	64944406	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	808150	64944406	70590341	60	10253											
DOCK1	1793	broad.mit.edu	37	10	128797685	128797685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr10:128797685C>T	ENST00000280333.6	+	9	944	c.835C>T	c.(835-837)Cga>Tga	p.R279*	RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	279					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R279*(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACATAATTTGCGAGCCGTGTT	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	10											103	98	100					10																	128797685		1896	4130	6026	128687675	SO:0001587	stop_gained	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.835C>T	10.37:g.128797685C>T	ENSP00000280333:p.Arg279*		128687675	A9Z1Z5	Nonsense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	C	38	7.065561	0.98040	.	.	ENSG00000150760	ENST00000280333	.	.	.	3.97	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	13.7232	0.62740	0.1555:0.8445:0.0:0.0	.	.	.	.	X	279	.	ENSP00000280333:R279X	R	+	1	2	DOCK1	128687675	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.645000	0.67909	1.212000	0.43366	0.563000	0.77884	CGA		0.403	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		T	128797685	C	T	128797685	4	4	181	1	0	0	0	0	0	1	0	0	4684	760	27	1	869	1	DOCK1	10	128797685	Nonsense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	63853279	128797685	6737062	61	10254											
IGSF22	283284	broad.mit.edu	37	11	18739641	18739641	+	Splice_Site	SNP	C	C	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr11:18739641C>G	ENST00000513874.1	-	9	950		c.e9-1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22									p.?(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTCAGTACCCTGCCTCATGG	0.537																																																1	Unknown(1)	ovary(1)	11											112	105	107					11																	18739641		2039	4188	6227	18696217	SO:0001630	splice_region_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.811-1G>C	11.37:g.18739641C>G			18696217	A6NNA0|D6RGV7	Splice_Site	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327938	0.60743	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4642	0.61243	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF22	18696217	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	4.868000	0.63021	1.883000	0.54544	0.561000	0.74099	.		0.537	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	Intron	G	18739641	C	G	18739641	5	3	181	1	0	0	0	0	0	0	1	0	7600	695	24	3	3230	3	IGSF22	11	18739641	Splice_Site	SNP	C	TCGA-23-1110-01A-01D-0428-08		18739641	116266875	62	10255											
OR5AN1	390195	broad.mit.edu	37	11	59132241	59132241	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr11:59132241A>T	ENST00000313940.2	+	1	357	c.310A>T	c.(310-312)Atc>Ttc	p.I104F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I104F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCAGTACTTTATCTTTTCAAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	11											206	188	194					11																	59132241		2201	4295	6496	58888817	SO:0001583	missense	390195			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.310A>T	11.37:g.59132241A>T	ENSP00000320302:p.Ile104Phe		58888817	B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.576175	0.00887	.	.	ENSG00000176495	ENST00000313940	T	0.00302	8.2	4.42	-7.93	0.01156	GPCR, rhodopsin-like superfamily (1);	0.722427	0.12385	N	0.473539	T	0.00039	0.0001	N	0.01015	-1.05	0.09310	N	1	P	0.44946	0.846	B	0.40101	0.319	T	0.52946	-0.8507	10	0.02654	T	1	-4.2895	5.7136	0.17948	0.1746:0.0:0.2984:0.527	.	104	Q8NGI8	O5AN1_HUMAN	F	104	ENSP00000320302:I104F	ENSP00000320302:I104F	I	+	1	0	OR5AN1	58888817	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-3.028000	0.00639	-0.925000	0.03775	-0.408000	0.06270	ATC		0.428	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		T	59132241	A	T	59132241	3	4	181	1	0	0	0	0	1	0	0	0	11143	449	16	5	312	5	OR5AN1	11	59132241	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	40392600	59132241	75874275	63	10256											
AHNAK	79026	broad.mit.edu	37	11	62286515	62286515	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr11:62286515G>C	ENST00000378024.4	-	5	15648	c.15374C>G	c.(15373-15375)tCt>tGt	p.S5125C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5125					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.S5125C(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGCTGGCAAAGAAAGTTCCAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											71	71	71					11																	62286515		2202	4299	6501	62043091	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15374C>G	11.37:g.62286515G>C	ENSP00000367263:p.Ser5125Cys		62043091	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865504	0.17250	.	.	ENSG00000124942	ENST00000378024	T	0.00922	5.54	4.7	3.76	0.43208	.	0.000000	0.44483	D	0.000459	T	0.05914	0.0154	M	0.85462	2.755	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.03287	-1.1052	10	0.59425	D	0.04	-1.6751	12.8273	0.57726	0.0:0.0:0.7051:0.2949	.	5125	Q09666	AHNK_HUMAN	C	5125	ENSP00000367263:S5125C	ENSP00000367263:S5125C	S	-	2	0	AHNAK	62043091	1.000000	0.71417	0.587000	0.28692	0.129000	0.20672	4.281000	0.58965	1.055000	0.40461	0.542000	0.68232	TCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62286515	G	C	62286515	3	2	181	1	0	0	0	0	1	0	0	0	414	942	33	3	2418	3	AHNAK	11	62286515	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	3154274	62286515	72720001	64	10257											
SLC22A10	387775	broad.mit.edu	37	11	63057878	63057878	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr11:63057878T>A	ENST00000332793.6	+	1	243	c.241T>A	c.(241-243)Tca>Aca	p.S81T	SLC22A10_ENST00000526800.1_Missense_Mutation_p.S29T|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	81						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.S81T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CCCACTAGACTCAAATCTGAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											112	116	114					11																	63057878		2201	4298	6499	62814454	SO:0001583	missense	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.241T>A	11.37:g.63057878T>A	ENSP00000327569:p.Ser81Thr		62814454	Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	T	2.095	-0.407357	0.04832	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.66099	2.48;-0.19	2.89	2.89	0.33648	.	0.523213	0.16788	U	0.199520	T	0.72285	0.3441	M	0.81802	2.56	0.41428	D	0.98784	B;D	0.69078	0.095;0.997	B;P	0.61328	0.046;0.887	T	0.69800	-0.5047	10	0.24483	T	0.36	.	7.6374	0.28274	0.0:0.0:0.0:1.0	.	29;81	E9PJB1;Q63ZE4	.;S22AA_HUMAN	T	81;29	ENSP00000327569:S81T;ENSP00000433908:S29T	ENSP00000327569:S81T	S	+	1	0	SLC22A10	62814454	0.001000	0.12720	0.052000	0.19188	0.218000	0.24690	-0.061000	0.11693	1.360000	0.45960	0.472000	0.43445	TCA		0.493	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		A	63057878	T	A	63057878	3	1	181	1	0	0	0	0	1	0	0	0	14444	1551	54	5	243	5	SLC22A10	11	63057878	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	771363	63057878	71948638	65	10258											
BIRC3	330	broad.mit.edu	37	11	102207518	102207518	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr11:102207518C>G	ENST00000263464.3	+	8	4357	c.1607C>G	c.(1606-1608)aCa>aGa	p.T536R	BIRC3_ENST00000532808.1_Missense_Mutation_p.T536R	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	536					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T536R(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATATTCCCACAGAAGATGTT	0.269			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	1	Substitution - Missense(1)	ovary(1)	11											72	73	72					11																	102207518		2202	4297	6499	101712728	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1607C>G	11.37:g.102207518C>G	ENSP00000263464:p.Thr536Arg		101712728	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744611	0.49151	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.26518	1.73;1.73	5.34	3.46	0.39613	Baculoviral inhibition of apoptosis protein repeat (1);DEATH-like (1);	0.289920	0.44285	D	0.000474	T	0.31857	0.0810	L	0.49126	1.545	0.38892	D	0.957138	P	0.52577	0.954	P	0.51777	0.679	T	0.10474	-1.0628	10	0.59425	D	0.04	.	9.1464	0.36935	0.0:0.7757:0.1466:0.0777	.	536	Q13489	BIRC3_HUMAN	R	536;536;304	ENSP00000263464:T536R;ENSP00000432907:T536R	ENSP00000263464:T536R	T	+	2	0	BIRC3	101712728	0.978000	0.34361	0.949000	0.38748	0.894000	0.52154	1.653000	0.37323	0.816000	0.34421	-0.225000	0.12378	ACA		0.269	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102207518	C	G	102207518	3	3	181	1	0	0	0	0	1	0	0	0	1436	478	17	3	1633	3	BIRC3	11	102207518	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	39149640	102207518	32798998	66	10259											
TSPAN19	144448	broad.mit.edu	37	12	85417152	85417152	+	Silent	SNP	A	A	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr12:85417152A>G	ENST00000532498.2	-	5	371	c.291T>C	c.(289-291)ttT>ttC	p.F97F	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	97						integral component of membrane (GO:0016021)		p.F97F(1)		ovary(1)	1						CCTGAACAGCAAAGGTCCATG	0.318																																																1	Substitution - coding silent(1)	ovary(1)	12											69	62	64					12																	85417152		1850	4098	5948	83941283	SO:0001819	synonymous_variant	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.291T>C	12.37:g.85417152A>G			83941283		Silent	SNP	ENST00000532498.2	37	CCDS44949.1																																																																																				0.318	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		G	85417152	A	G	85417152	2	3	181	1	0	0	0	0	0	0	0	1	16643	127	5	4		4	TSPAN19	12	85417152	Silent	SNP	A	TCGA-23-1110-01A-01D-0428-08		85417152	48434743	67	10260											
TPTE2	93492	broad.mit.edu	37	13	20041412	20041412	+	Silent	SNP	A	A	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr13:20041412A>G	ENST00000400230.2	-	7	509	c.465T>C	c.(463-465)gaT>gaC	p.D155D	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Silent_p.D155D|TPTE2_ENST00000382978.1_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	155					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGTAAATGACATCAACCAGCA	0.279																																																0			13											48	53	51					13																	20041412		2201	4289	6490	18939412	SO:0001819	synonymous_variant	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.465T>C	13.37:g.20041412A>G			18939412	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	CCDS45014.1																																																																																				0.279	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20041412	A	G	20041412	2	3	181	1	0	0	0	0	0	0	0	1	16431	214	8	4		4	TPTE2	13	20041412	Silent	SNP	A	TCGA-23-1110-01A-01D-0428-08		20041412	95128466	68	10261											
SLITRK5	26050	broad.mit.edu	37	13	88330418	88330418	+	Silent	SNP	A	A	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr13:88330418A>G	ENST00000325089.6	+	2	2994	c.2775A>G	c.(2773-2775)gtA>gtG	p.V925V	SLITRK5_ENST00000400028.3_Silent_p.V684V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	925					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.V925V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTGTCTTTGTAGAACCCAACC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	13											92	102	98					13																	88330418		2203	4298	6501	87128419	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2775A>G	13.37:g.88330418A>G			87128419	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	CCDS9465.1																																																																																				0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			G	88330418	A	G	88330418	2	3	181	1	0	0	0	0	0	0	0	1	14749	407	15	4		4	SLITRK5	13	88330418	Silent	SNP	A	TCGA-23-1110-01A-01D-0428-08	68289006	88330418	26839460	69	10262											
GMPR2	51292	broad.mit.edu	37	14	24707820	24707820	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr14:24707820G>C	ENST00000355299.4	+	10	1344	c.883G>C	c.(883-885)Gtt>Ctt	p.V295L	GMPR2_ENST00000559836.1_Missense_Mutation_p.V295L|GMPR2_ENST00000399440.2_Missense_Mutation_p.V295L|GMPR2_ENST00000559104.1_Missense_Mutation_p.V280L|GMPR2_ENST00000559910.1_Missense_Mutation_p.V262L|GMPR2_ENST00000348719.7_Missense_Mutation_p.V356L|GMPR2_ENST00000456667.3_Missense_Mutation_p.V267L|GMPR2_ENST00000420554.2_Missense_Mutation_p.V313L|GMPR2_ENST00000557854.1_Missense_Mutation_p.V374L	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	295					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.V295L(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GACAGTGGAAGTTCCTTTTAA	0.463																																																1	Substitution - Missense(1)	ovary(1)	14											114	106	109					14																	24707820		1962	4167	6129	23777660	SO:0001583	missense	51292				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.883G>C	14.37:g.24707820G>C	ENSP00000347449:p.Val295Leu		23777660	D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171894	0.21704	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	6.17	4.37	0.52481	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.055271	0.64402	D	0.000001	T	0.74891	0.3776	L	0.58101	1.795	0.30471	N	0.773287	B;B;B;B;B;B	0.29531	0.002;0.071;0.247;0.049;0.006;0.023	B;B;B;B;B;B	0.30029	0.015;0.075;0.11;0.022;0.015;0.037	T	0.66945	-0.5795	10	0.13853	T	0.58	-1.4763	12.4528	0.55686	0.1372:0.0:0.8628:0.0	.	132;267;356;313;297;295	Q86SZ5;Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;.;GMPR2_HUMAN	L	295;295;313;295;356;267	ENSP00000347449:V295L;ENSP00000392859:V313L;ENSP00000382369:V295L;ENSP00000334409:V356L;ENSP00000405743:V267L	ENSP00000334409:V356L	V	+	1	0	GMPR2	23777660	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.613000	0.74192	0.951000	0.37770	-0.140000	0.14226	GTT		0.463	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		C	24707820	G	C	24707820	3	2	181	1	0	0	0	0	1	0	0	0	6497	1029	36	3	971	3	GMPR2	14	24707820	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08		24707820	82641720	70	10263											
SYNE2	23224	broad.mit.edu	37	14	64518439	64518439	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr14:64518439T>C	ENST00000344113.4	+	48	8020	c.7808T>C	c.(7807-7809)cTt>cCt	p.L2603P	SYNE2_ENST00000358025.3_Missense_Mutation_p.L2603P|SYNE2_ENST00000554584.1_Missense_Mutation_p.L2636P|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2603					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L2603P(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTAAGCAACTTGAACATGGT	0.373																																																1	Substitution - Missense(1)	ovary(1)	14											101	95	97					14																	64518439		1874	4113	5987	63588192	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7808T>C	14.37:g.64518439T>C	ENSP00000341781:p.Leu2603Pro		63588192	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	6.137	0.393538	0.11638	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.70282	0.63;0.63;-0.47	5.91	4.77	0.60923	.	0.000000	0.52532	D	0.000078	T	0.60715	0.2290	L	0.34521	1.04	0.80722	D	1	B;B	0.32203	0.246;0.36	B;B	0.34385	0.088;0.181	T	0.61574	-0.7035	10	0.72032	D	0.01	.	10.5827	0.45265	0.0:0.0722:0.0:0.9278	.	2603;2603	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	2603;2603;2636;2636	ENSP00000350719:L2603P;ENSP00000341781:L2603P;ENSP00000452570:L2636P	ENSP00000261678:L2636P	L	+	2	0	SYNE2	63588192	0.998000	0.40836	0.062000	0.19696	0.101000	0.19017	5.172000	0.65003	1.066000	0.40716	-0.250000	0.11733	CTT		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64518439	T	C	64518439	3	2	181	1	0	0	0	0	1	0	0	0	15446	1609	56	4	7994	4	SYNE2	14	64518439	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	39810619	64518439	42831101	71	10264											
KIAA0247	9766	broad.mit.edu	37	14	70171360	70171360	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr14:70171360C>A	ENST00000342745.4	+	4	672	c.359C>A	c.(358-360)tCt>tAt	p.S120Y		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	120						integral component of membrane (GO:0016021)		p.S120Y(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CCCACGCTGTCTATAGTGGCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	14											80	68	72					14																	70171360		2203	4300	6503	69241113	SO:0001583	missense	9766			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.359C>A	14.37:g.70171360C>A	ENSP00000344424:p.Ser120Tyr		69241113		Missense_Mutation	SNP	ENST00000342745.4	37	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895376	0.91962	.	.	ENSG00000100647	ENST00000342745	T	0.67865	-0.29	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82065	-0.0642	10	0.66056	D	0.02	-13.8884	19.2191	0.93789	0.0:1.0:0.0:0.0	.	120	Q92537	K0247_HUMAN	Y	120	ENSP00000344424:S120Y	ENSP00000344424:S120Y	S	+	2	0	KIAA0247	69241113	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.426000	0.80270	2.541000	0.85698	0.561000	0.74099	TCT		0.498	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		A	70171360	C	A	70171360	3	1	181	1	0	0	0	0	1	0	0	0	8165	913	32	3	369	3	KIAA0247	14	70171360	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	5652921	70171360	37178180	72	10265											
EPB42	2038	broad.mit.edu	37	15	43500502	43500502	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr15:43500502A>T	ENST00000441366.2	-	8	1226	c.1001T>A	c.(1000-1002)aTg>aAg	p.M334K	EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000300215.3_Missense_Mutation_p.M364K|EPB42_ENST00000540029.1_Missense_Mutation_p.M256K	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	334					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.M364K(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGGCCGCGTCATCCAGCACTC	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											68	58	61					15																	43500502		2203	4299	6502	41287794	SO:0001583	missense	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1001T>A	15.37:g.43500502A>T	ENSP00000396616:p.Met334Lys		41287794	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543307	0.86022	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366	T;T;T	0.54279	0.58;0.58;0.58	5.77	5.77	0.91146	Transglutaminase-like (2);	0.036561	0.85682	D	0.000000	T	0.78742	0.4331	M	0.93808	3.46	0.58432	D	0.999995	D;D;D;D	0.76494	0.989;0.997;0.999;0.997	P;D;D;D	0.71414	0.836;0.97;0.973;0.97	D	0.84410	0.0565	10	0.87932	D	0	-28.2954	14.3281	0.66534	1.0:0.0:0.0:0.0	.	256;334;364;334	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	K	364;256;334	ENSP00000300215:M364K;ENSP00000444699:M256K;ENSP00000396616:M334K	ENSP00000300215:M364K	M	-	2	0	EPB42	41287794	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	8.489000	0.90461	2.330000	0.79161	0.528000	0.53228	ATG		0.527	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		T	43500502	A	T	43500502	3	4	181	1	0	0	0	0	1	0	0	0	5158	217	8	5	1098	5	EPB42	15	43500502	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08		43500502	59030890	73	10266											
DUOX1	53905	broad.mit.edu	37	15	45442897	45442897	+	Silent	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr15:45442897C>T	ENST00000321429.4	+	23	3293	c.2886C>T	c.(2884-2886)atC>atT	p.I962I	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.I962I|DUOX1_ENST00000561166.1_Silent_p.I608I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	962	Interaction with TXNDC11. {ECO:0000250}.		I -> T (in dbSNP:rs16939743).		cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.I962I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGGATATGATCTGGTGAGCAC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	15											47	44	45					15																	45442897		2198	4298	6496	43230189	SO:0001819	synonymous_variant	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2886C>T	15.37:g.45442897C>T			43230189	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																				0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		T	45442897	C	T	45442897	2	4	181	1	0	0	0	0	0	0	0	1	4800	903	32	2		2	DUOX1	15	45442897	Silent	SNP	C	TCGA-23-1110-01A-01D-0428-08	1942395	45442897	57088495	74	10267											
TMC7	79905	broad.mit.edu	37	16	19056666	19056666	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr16:19056666T>A	ENST00000304381.5	+	11	1589	c.1459T>A	c.(1459-1461)Tgg>Agg	p.W487R	TMC7_ENST00000569532.1_Missense_Mutation_p.W487R|TMC7_ENST00000421369.3_Missense_Mutation_p.W377R	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	487					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.W487R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATTTCAGTGCTGGGAGACCCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	16											130	109	116					16																	19056666		2197	4300	6497	18964167	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1459T>A	16.37:g.19056666T>A	ENSP00000304710:p.Trp487Arg		18964167	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416470	0.83449	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.74421	-0.84;-0.84	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.87732	0.6251	M	0.89840	3.065	0.80722	D	1	D;P	0.60575	0.988;0.942	D;P	0.64595	0.927;0.9	D	0.90463	0.4447	10	0.87932	D	0	.	15.1905	0.73041	0.0:0.0:0.0:1.0	.	487;487	Q7Z402;B3KSZ3	TMC7_HUMAN;.	R	487;377	ENSP00000304710:W487R;ENSP00000397081:W377R	ENSP00000304710:W487R	W	+	1	0	TMC7	18964167	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.948000	0.87774	1.973000	0.57446	0.454000	0.30748	TGG		0.463	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		A	19056666	T	A	19056666	3	1	181	1	0	0	0	0	1	0	0	0	15990	1580	55	5	1501	5	TMC7	16	19056666	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08		19056666	71298087	75	10268											
RABEP2	79874	broad.mit.edu	37	16	28922431	28922431	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr16:28922431G>A	ENST00000358201.4	-	6	1552	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	RABEP2_ENST00000357573.6_Intron|RABEP2_ENST00000544477.1_Missense_Mutation_p.R251W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	322					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.R322W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATTGCTCCGTCTCAGGCCC	0.672																																					Pancreas(66;639 1284 10093 31061 49099)											1	Substitution - Missense(1)	ovary(1)	16											55	67	63					16																	28922431		2144	4239	6383	28829932	SO:0001583	missense	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.964C>T	16.37:g.28922431G>A	ENSP00000350934:p.Arg322Trp		28829932		Missense_Mutation	SNP	ENST00000358201.4	37	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851293	0.71719	.	.	ENSG00000177548	ENST00000358201;ENST00000544477	T;T	0.32753	1.44;1.44	5.03	1.7	0.24286	Rabaptin coiled-coil domain (1);	0.365727	0.24864	N	0.034981	T	0.39118	0.1066	L	0.36672	1.1	0.31209	N	0.698897	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.87578	0.998;0.877;0.993	T	0.37009	-0.9724	10	0.72032	D	0.01	-34.5244	6.8316	0.23913	0.0815:0.0:0.4633:0.4551	.	251;322;322	B4DHR0;Q49AT6;Q9H5N1	.;.;RABE2_HUMAN	W	322;251	ENSP00000350934:R322W;ENSP00000442798:R251W	ENSP00000350934:R322W	R	-	1	2	RABEP2	28829932	0.984000	0.35163	0.885000	0.34714	0.982000	0.71751	1.799000	0.38824	0.498000	0.27948	0.561000	0.74099	CGG		0.672	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		A	28922431	G	A	28922431	3	1	181	1	0	0	0	0	1	0	0	0	12965	1144	40	1	777	1	RABEP2	16	28922431	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	9865765	28922431	61432322	76	10269											
ABCC11	85320	broad.mit.edu	37	16	48230203	48230203	+	Nonsense_Mutation	SNP	C	C	A	rs149334541		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr16:48230203C>A	ENST00000394747.1	-	17	2693	c.2344G>T	c.(2344-2346)Gag>Tag	p.E782*	ABCC11_ENST00000356608.2_Nonsense_Mutation_p.E782*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.E782*|ABCC11_ENST00000537808.1_Missense_Mutation_p.R749S|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.E782*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	782					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.E782K(1)|p.E782*(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCTTCCATCTCCTCCTCCTGT	0.562																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|skin(1)	16											128	93	105					16																	48230203		2201	4300	6501	46787704	SO:0001587	stop_gained	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2344G>T	16.37:g.48230203C>A	ENSP00000378230:p.Glu782*		46787704	Q8TDJ0|Q96JA6|Q9BX80	Nonsense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.260463|7.260463	0.98171|0.98171	.|.	.|.	ENSG00000121270|ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747|ENST00000537808	.|D	.|0.92805	.|-3.11	5.24|5.24	0.692|0.692	0.18050|0.18050	.|.	1.277270|.	0.05123|.	N|.	0.491111|.	.|D	.|0.85982	.|0.5824	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999986|0.999986	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74456	.|-0.3659	.|6	0.22706|0.33940	T|T	0.39|0.23	-3.8781|-3.8781	2.8913|2.8913	0.05677|0.05677	0.1966:0.4052:0.0:0.3983|0.1966:0.4052:0.0:0.3983	.|.	.|.	.|.	.|.	X|S	782|749	.|ENSP00000438530:R749S	ENSP00000311326:E782X|ENSP00000438530:R749S	E|R	-|-	1|3	0|2	ABCC11|ABCC11	46787704|46787704	0.006000|0.006000	0.16342|0.16342	0.846000|0.846000	0.33378|0.33378	0.068000|0.068000	0.16541|0.16541	0.020000|0.020000	0.13466|0.13466	-0.132000|-0.132000	0.11557|0.11557	-0.140000|-0.140000	0.14226|0.14226	GAG|AGG		0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48230203	C	A	48230203	4	1	181	1	0	0	0	0	0	1	0	0	51	864	30	3	1856	3	ABCC11	16	48230203	Nonsense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	19307772	48230203	42124550	77	10270											
CDH16	1014	broad.mit.edu	37	16	66947454	66947454	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr16:66947454T>A	ENST00000299752.4	-	8	1036	c.843A>T	c.(841-843)gaA>gaT	p.E281D	CDH16_ENST00000568632.1_Missense_Mutation_p.E184D|CDH16_ENST00000565796.1_Missense_Mutation_p.E281D|CDH16_ENST00000570262.1_Missense_Mutation_p.E201D|CDH16_ENST00000394055.3_Missense_Mutation_p.E281D	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E281D(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGCATTCACTTCAAAGGGTC	0.617																																																1	Substitution - Missense(1)	ovary(1)	16											122	113	116					16																	66947454		2200	4300	6500	65504955	SO:0001583	missense	1014			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.843A>T	16.37:g.66947454T>A	ENSP00000299752:p.Glu281Asp		65504955	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	T	0.887	-0.726862	0.03158	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53206	0.63;0.63	5.39	-3.14	0.05250	Cadherin (4);Cadherin-like (1);	0.636580	0.16713	N	0.202597	T	0.12944	0.0314	N	0.01242	-0.935	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.18023	-1.0350	10	0.25751	T	0.34	-1.3153	2.5906	0.04841	0.2632:0.1247:0.0825:0.5296	.	281;281;281	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	D	281;281;245	ENSP00000377619:E281D;ENSP00000299752:E281D	ENSP00000299752:E281D	E	-	3	2	CDH16	65504955	0.152000	0.22762	0.884000	0.34674	0.019000	0.09904	-0.188000	0.09642	-0.224000	0.09928	-0.270000	0.10280	GAA		0.617	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		A	66947454	T	A	66947454	3	1	181	1	0	0	0	0	1	0	0	0	3101	1606	56	5	1690	5	CDH16	16	66947454	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	18717251	66947454	23407299	78	10271											
PRDM7	11105	broad.mit.edu	37	16	90126903	90126903	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr16:90126903T>C	ENST00000449207.2	-	9	1098	c.1079A>G	c.(1078-1080)gAg>gGg	p.E360G	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	360					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGGCCATACTCATCCCCAGA	0.547																																																0			16											100	98	99					16																	90126903		1940	4145	6085	88654404	SO:0001583	missense	11105			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1079A>G	16.37:g.90126903T>C	ENSP00000396732:p.Glu360Gly		88654404	A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.612	0.674981	0.14841	.	.	ENSG00000126856	ENST00000449207	D	0.85702	-2.02	1.02	1.02	0.19986	SET domain (2);	.	.	.	.	D	0.88800	0.6535	M	0.76328	2.33	0.23425	N	0.997708	D	0.67145	0.996	D	0.65323	0.934	T	0.77003	-0.2749	8	.	.	.	-14.1093	4.6015	0.12356	0.0:0.0:0.0:1.0	.	360	Q9NQW5	PRDM7_HUMAN	G	360	ENSP00000396732:E360G	.	E	-	2	0	PRDM7	88654404	0.815000	0.29118	0.002000	0.10522	0.141000	0.21300	0.735000	0.26115	0.362000	0.24319	0.055000	0.15244	GAG		0.547	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			C	90126903	T	C	90126903	3	2	181	1	0	0	0	0	1	0	0	0	12464	1551	54	4	407	4	PRDM7	16	90126903	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	23179449	90126903	227850	79	10272											
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578403	C	T	7578403	3	4	181	1	0	0	0	0	1	0	0	0	16381	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08		7578403	73616807	80	10273											
MYO15A	51168	broad.mit.edu	37	17	18054759	18054759	+	Missense_Mutation	SNP	T	T	A	rs374708771		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr17:18054759T>A	ENST00000205890.5	+	40	8043	c.7705T>A	c.(7705-7707)Ttc>Atc	p.F2569I	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2569	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F2569I(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCTGAGCACTTCCCACAGCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											73	78	76					17																	18054759		2083	4229	6312	17995484	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7705T>A	17.37:g.18054759T>A	ENSP00000205890:p.Phe2569Ile		17995484	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.139196	0.56936	.	.	ENSG00000091536	ENST00000205890	D	0.87029	-2.2	5.25	4.14	0.48551	.	.	.	.	.	T	0.81143	0.4761	L	0.54323	1.7	0.80722	D	1	B	0.29188	0.236	B	0.22386	0.039	T	0.73541	-0.3950	9	0.19147	T	0.46	.	9.8908	0.41290	0.2718:0.0:0.0:0.7282	.	2569	Q9UKN7	MYO15_HUMAN	I	2569	ENSP00000205890:F2569I	ENSP00000205890:F2569I	F	+	1	0	MYO15A	17995484	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.832000	0.27490	0.895000	0.36342	0.533000	0.62120	TTC		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18054759	T	A	18054759	3	1	181	1	0	0	0	0	1	0	0	0	10063	1609	56	5	7855	5	MYO15A	17	18054759	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	10476356	18054759	63140451	81	10274											
KRT35	3886	broad.mit.edu	37	17	39633357	39633357	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr17:39633357T>G	ENST00000393989.1	-	7	1361	c.1319A>C	c.(1318-1320)aAc>aCc	p.N440T	KRT35_ENST00000246639.2_Missense_Mutation_p.N410T	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	440	Tail.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.N440T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGGGCTGCAGTTTGTGCGGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	17											45	53	50					17																	39633357		1935	4127	6062	36886883	SO:0001583	missense	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1319A>C	17.37:g.39633357T>G	ENSP00000377558:p.Asn440Thr		36886883	O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.662493	0.00772	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	T;T	0.80304	-1.36;-1.31	5.41	-0.375	0.12509	.	0.562317	0.17311	N	0.178870	T	0.39545	0.1082	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46884	-0.9159	10	0.06365	T	0.9	.	4.0746	0.09897	0.0784:0.1273:0.308:0.4864	.	440	Q92764	KRT35_HUMAN	T	410;440	ENSP00000246639:N410T;ENSP00000377558:N440T	ENSP00000246639:N410T	N	-	2	0	KRT35	36886883	0.142000	0.22610	0.085000	0.20634	0.338000	0.28826	-0.019000	0.12546	-0.159000	0.11021	-0.247000	0.11927	AAC		0.622	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		G	39633357	T	G	39633357	3	3	181	1	0	0	0	0	1	0	0	0	8472	1725	60	5	52	5	KRT35	17	39633357	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	21578598	39633357	41561853	82	10275											
MBTD1	54799	broad.mit.edu	37	17	49272709	49272709	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr17:49272709C>A	ENST00000586178.1	-	13	1581	c.1238G>T	c.(1237-1239)gGa>gTa	p.G413V	MBTD1_ENST00000415868.1_Missense_Mutation_p.G413V|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	413					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G249V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CATCAGGAATCCGTCAGCTAG	0.383																																																1	Substitution - Missense(1)	ovary(1)	17											100	86	91					17																	49272709		2203	4300	6503	46627708	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1238G>T	17.37:g.49272709C>A	ENSP00000468304:p.Gly413Val		46627708	Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655456	0.88056	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.29917	1.55	5.36	5.36	0.76844	.	0.053226	0.85682	D	0.000000	T	0.59032	0.2164	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.986;0.999	D;D	0.71184	0.962;0.972	T	0.62859	-0.6765	10	0.87932	D	0	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	413;249	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	V	413	ENSP00000403946:G413V	ENSP00000386072:G413V	G	-	2	0	MBTD1	46627708	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	7.769000	0.85360	2.665000	0.90641	0.643000	0.83706	GGA		0.383	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			A	49272709	C	A	49272709	3	1	181	1	0	0	0	0	1	0	0	0	9360	855	30	3	668	3	MBTD1	17	49272709	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	9639352	49272709	31922501	83	10276											
PRR11	55771	broad.mit.edu	37	17	57262467	57262483	+	Frame_Shift_Del	DEL	TCCTGGAACTTCAATTT	TCCTGGAACTTCAATTT	-	rs373624342|rs201630179	byFrequency	TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	TCCTGGAACTTCAATTT	TCCTGGAACTTCAATTT	-	-	TCCTGGAACTTCAATTT	TCCTGGAACTTCAATTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr17:57262467_57262483delTCCTGGAACTTCAATTT	ENST00000262293.4	+	3	493_509	c.181_197delTCCTGGAACTTCAATTT	c.(181-198)tcctggaacttcaattttfs	p.SWNFNF61fs		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	61						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.W62fs*1(1)|p.N65Y(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCTAACATCATCCTGGAACTTCAATTTTCCTAACATC	0.373																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|breast(1)	17																																								54617265	SO:0001589	frameshift_variant	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.181_197delTCCTGGAACTTCAATTT	17.37:g.57262467_57262483delTCCTGGAACTTCAATTT	ENSP00000262293:p.Ser61fs		54617249	Q9NUZ7|Q9NXE9	Frame_Shift_Del	DEL	ENST00000262293.4	37	CCDS11614.1																																																																																				0.373	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		-	57262483	TCCTGGAACTTCAATTT	-	57262467	7	5	181	1	0	1	0	1	0	0	0	0	12586	1435	50	0	187	0	PRR11	17	57262467	Frame_Shift_Del	DEL	TCCTGGAACTTCAATTT	TCGA-23-1110-01A-01D-0428-08	7989758	57262467	23932743	84	10277											
MRPL4	51073	broad.mit.edu	37	19	10370467	10370473	+	Frame_Shift_Del	DEL	CGGCCAC	CGGCCAC	-	rs537189707|rs144195512	byFrequency	TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	CGGCCAC	CGGCCAC	-	-	CGGCCAC	CGGCCAC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr19:10370467_10370473delCGGCCAC	ENST00000253099.6	+	9	1201_1207	c.914_920delCGGCCAC	c.(913-921)gcggccaccfs	p.AAT305fs	CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000307422.5_Frame_Shift_Del_p.AAT305fs|MRPL4_ENST00000393733.2_3'UTR	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	305					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A306S(1)|p.A306fs>4(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CAGGGCCCAGCGGCCACCCCGTACCAC	0.657																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|kidney(1)	19																																								10231473	SO:0001589	frameshift_variant	51073			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.914_920delCGGCCAC	19.37:g.10370467_10370473delCGGCCAC	ENSP00000253099:p.Ala305fs		10231467	A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Frame_Shift_Del	DEL	ENST00000253099.6	37	CCDS12230.1																																																																																				0.657	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			-	10370473	CGGCCAC	-	10370467	7	5	181	1	0	1	0	1	0	0	0	0	9803	768	27	0	1001	0	MRPL4	19	10370467	Frame_Shift_Del	DEL	CGGCCAC	TCGA-23-1110-01A-01D-0428-08		10370467	48758516	85	10278											
MEGF8	1954	broad.mit.edu	37	19	42839282	42839282	+	Silent	SNP	G	G	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr19:42839282G>A	ENST00000251268.6	+	4	654	c.654G>A	c.(652-654)gtG>gtA	p.V218V	MEGF8_ENST00000334370.4_Silent_p.V218V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	218					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.V218V(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCACAACGTGAGTGCCAGGG	0.667																																																1	Substitution - coding silent(1)	ovary(1)	19											33	39	37					19																	42839282		2045	4176	6221	47531122	SO:0001819	synonymous_variant	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.654G>A	19.37:g.42839282G>A			47531122	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37																																																																																					0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		A	42839282	G	A	42839282	2	1	181	1	0	0	0	0	0	0	0	1	9463	1277	45	2		2	MEGF8	19	42839282	Silent	SNP	G	TCGA-23-1110-01A-01D-0428-08	32468815	42839282	16289701	86	10279											
ZNF235	9310	broad.mit.edu	37	19	44791915	44791915	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr19:44791915A>T	ENST00000291182.4	-	5	1775	c.1673T>A	c.(1672-1674)cTt>cAt	p.L558H	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	558					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.L558H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ATGATTGTGAAGATTCAAGCT	0.448																																																1	Substitution - Missense(1)	ovary(1)	19											86	82	83					19																	44791915		2203	4300	6503	49483755	SO:0001583	missense	9310			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1673T>A	19.37:g.44791915A>T	ENSP00000291182:p.Leu558His		49483755	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103280	0.76983	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.14266	2.52	5.04	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37955	N	0.001866	T	0.48768	0.1518	H	0.94222	3.51	0.47862	D	0.999537	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63769	-0.6562	10	0.87932	D	0	.	14.0388	0.64663	1.0:0.0:0.0:0.0	.	554;558	Q14590-2;Q14590	.;ZN235_HUMAN	H	558;558;450	ENSP00000291182:L558H	ENSP00000291182:L558H	L	-	2	0	ZNF235	49483755	0.998000	0.40836	0.958000	0.39756	0.983000	0.72400	4.704000	0.61831	2.023000	0.59567	0.379000	0.24179	CTT		0.448	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			T	44791915	A	T	44791915	3	4	181	1	0	0	0	0	1	0	0	0	17788	72	3	5	547	5	ZNF235	19	44791915	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	1952633	44791915	14337068	87	10280											
PGLYRP1	8993	broad.mit.edu	37	19	46522497	46522497	+	Silent	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr19:46522497C>T	ENST00000008938.4	-	3	633	c.590G>A	c.(589-591)tGa>tAa	p.*197*	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	0					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.*197*(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGCAGGGCCTCAGGGGGAGCG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19											160	161	160					19																	46522497		2203	4300	6503	51214337	SO:0001819	synonymous_variant	8993			AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"peptidoglycan recognition protein"	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.590G>A	19.37:g.46522497C>T			51214337	Q4VB36	Silent	SNP	ENST00000008938.4	37	CCDS12680.1																																																																																				0.547	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		T	46522497	C	T	46522497	2	4	181	1	0	0	0	0	0	0	0	1	11793	837	29	2		2	PGLYRP1	19	46522497	Silent	SNP	C	TCGA-23-1110-01A-01D-0428-08	1730582	46522497	12606486	88	10281											
HRC	3270	broad.mit.edu	37	19	49657294	49657294	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr19:49657294T>C	ENST00000252825.4	-	1	1387	c.1201A>G	c.(1201-1203)Agt>Ggt	p.S401G	HRC_ENST00000595625.1_Missense_Mutation_p.S401G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	401					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.S401G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCTTCATCACTCTTGTGGCCT	0.517																																					Melanoma(37;75 1097 24567 25669 30645)											1	Substitution - Missense(1)	ovary(1)	19											117	110	113					19																	49657294		2203	4300	6503	54349106	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1201A>G	19.37:g.49657294T>C	ENSP00000252825:p.Ser401Gly		54349106	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	T	2.728	-0.265084	0.05754	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.37235	1.21	3.18	0.417	0.16421	.	.	.	.	.	T	0.20129	0.0484	L	0.29908	0.895	0.09310	N	1	B	0.32918	0.39	B	0.28991	0.097	T	0.16867	-1.0388	9	0.24483	T	0.36	-0.6991	4.4721	0.11717	0.0:0.4993:0.0:0.5007	.	401	P23327	SRCH_HUMAN	G	401;100;371	ENSP00000252825:S401G	ENSP00000252825:S401G	S	-	1	0	HRC	54349106	0.001000	0.12720	0.008000	0.14137	0.174000	0.22865	0.104000	0.15313	0.283000	0.22279	0.379000	0.24179	AGT		0.517	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		C	49657294	T	C	49657294	3	2	181	1	0	0	0	0	1	0	0	0	7352	1551	54	4	922	4	HRC	19	49657294	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	3134797	49657294	9471689	89	10282											
CACNG7	59284	broad.mit.edu	37	19	54445451	54445451	+	Silent	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr19:54445451C>T	ENST00000391767.1	+	6	944	c.732C>T	c.(730-732)tcC>tcT	p.S244S	CACNG7_ENST00000222212.2_Silent_p.S244S			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	244				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.S244S(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GGAGCCCCTCCGACATCTCCA	0.677																																																1	Substitution - coding silent(1)	ovary(1)	19											102	106	105					19																	54445451		2203	4300	6503	59137263	SO:0001819	synonymous_variant	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.732C>T	19.37:g.54445451C>T			59137263	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	CCDS12868.1																																																																																				0.677	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			T	54445451	C	T	54445451	2	4	181	1	0	0	0	0	0	0	0	1	2562	639	23	1		1	CACNG7	19	54445451	Silent	SNP	C	TCGA-23-1110-01A-01D-0428-08	4788157	54445451	4683532	90	10283											
LILRA3	11026	broad.mit.edu	37	19	54803581	54803581	+	Silent	SNP	G	G	T	rs202151416		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr19:54803581G>T	ENST00000251390.3	-	3	334	c.243C>A	c.(241-243)ggC>ggA	p.G81G	LILRA3_ENST00000391745.1_Silent_p.G98G|LILRA3_ENST00000391744.3_Silent_p.G81G	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	81	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G81G(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGAACTGGCCCTTCTTCA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19											165	138	147					19																	54803581		2195	4170	6365	59495393	SO:0001819	synonymous_variant	11026			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.243C>A	19.37:g.54803581G>T			59495393	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	CCDS12887.1																																																																																				0.547	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			T	54803581	G	T	54803581	2	4	181	1	0	0	0	0	0	0	0	1	8786	1190	42	3		3	LILRA3	19	54803581	Silent	SNP	G	TCGA-23-1110-01A-01D-0428-08	358130	54803581	4325402	91	10284											
RDH13	112724	broad.mit.edu	37	19	55556577	55556577	+	Nonsense_Mutation	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr19:55556577G>C	ENST00000415061.3	-	7	1004	c.861C>G	c.(859-861)taC>taG	p.Y287*	RDH13_ENST00000396247.3_Nonsense_Mutation_p.Y216*|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|RDH13_ENST00000592423.1_5'Flank	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	287					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.Y216*(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GTCCATCGAAGTACTTTCCGG	0.652																																																1	Substitution - Nonsense(1)	ovary(1)	19											44	50	48					19																	55556577		1923	4126	6049	60248389	SO:0001587	stop_gained	112724				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19978	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 3"		"retinol dehydrogenase 13 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.861C>G	19.37:g.55556577G>C	ENSP00000391121:p.Tyr287*		60248389	Q6UX79|Q96G88	Nonsense_Mutation	SNP	ENST00000415061.3	37	CCDS54320.1	.	.	.	.	.	.	.	.	.	.	G	36	5.771209	0.96922	.	.	ENSG00000160439	ENST00000415061;ENST00000396247	.	.	.	4.61	2.5	0.30297	.	0.260889	0.39146	N	0.001459	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9799	0.19401	0.2924:0.0:0.7076:0.0	.	.	.	.	X	287;216	.	ENSP00000379547:Y216X	Y	-	3	2	RDH13	60248389	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	2.458000	0.45014	1.322000	0.45245	-0.671000	0.03813	TAC		0.652	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1	NM_138412		C	55556577	G	C	55556577	4	2	181	1	0	0	0	0	0	1	0	0	13195	1024	36	3	138	3	RDH13	19	55556577	Nonsense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08	752996	55556577	3572406	92	10285											
RIN2	54453	broad.mit.edu	37	20	19870273	19870273	+	Missense_Mutation	SNP	G	G	T	rs535994976		TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr20:19870273G>T	ENST00000255006.6	+	2	324	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	RIN2_ENST00000440354.2_Missense_Mutation_p.G10C	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	10					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.G10C(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGGCGCCCGCGGTCTGGACAA	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											20	25	23					20																	19870273		1858	4073	5931	19818273	SO:0001583	missense	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.175G>T	20.37:g.19870273G>T	ENSP00000255006:p.Gly59Cys		19818273	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258250	0.39896	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.06528	3.29;3.29	6.08	-8.46	0.00942	.	0.771349	0.12236	N	0.487020	T	0.02807	0.0084	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.40175	-0.9577	9	.	.	.	0.087	2.1744	0.03858	0.4256:0.1692:0.2912:0.114	.	10;10	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	C	59;10	ENSP00000255006:G59C;ENSP00000391239:G10C	.	G	+	1	0	RIN2	19818273	0.000000	0.05858	0.045000	0.18777	0.995000	0.86356	-0.716000	0.04991	-0.940000	0.03705	-0.290000	0.09829	GGT		0.567	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			T	19870273	G	T	19870273	3	4	181	1	0	0	0	0	1	0	0	0	13375	1116	39	3	30	3	RIN2	20	19870273	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08		19870273	43155247	93	10286											
FOXA2	3170	broad.mit.edu	37	20	22563750	22563750	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr20:22563750T>G	ENST00000377115.4	-	3	293	c.112A>C	c.(112-114)Aac>Cac	p.N38H	FOXA2_ENST00000419308.2_Missense_Mutation_p.N44H	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	38	Transactivation domain 1. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N38H(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TTCATGCCGTTCATCCCCAGG	0.672																																																1	Substitution - Missense(1)	ovary(1)	20											58	64	62					20																	22563750		2201	4299	6500	22511750	SO:0001583	missense	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.112A>C	20.37:g.22563750T>G	ENSP00000366319:p.Asn38His		22511750	Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.322541	0.60634	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993	T;T;T	0.25749	1.78;1.78;1.78	3.89	3.89	0.44902	Fork-head N-terminal (1);	.	.	.	.	T	0.47451	0.1446	M	0.71581	2.175	0.54753	D	0.999987	D;D	0.76494	0.998;0.999	D;D	0.73708	0.967;0.981	T	0.48352	-0.9043	9	0.51188	T	0.08	.	12.5631	0.56293	0.0:0.0:0.0:1.0	.	38;44	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	H	38;38;44	ENSP00000366319:N38H;ENSP00000400341:N38H;ENSP00000315955:N44H	ENSP00000315955:N44H	N	-	1	0	FOXA2	22511750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.711000	0.61881	1.624000	0.50355	0.383000	0.25322	AAC		0.672	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			G	22563750	T	G	22563750	3	3	181	1	0	0	0	0	1	0	0	0	5990	1783	62	5	1265	5	FOXA2	20	22563750	Missense_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08	2693477	22563750	40461770	94	10287											
NDUFV3	4731	broad.mit.edu	37	21	44329129	44329129	+	Nonstop_Mutation	SNP	T	T	G			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chr21:44329129T>G	ENST00000340344.4	+	3	391	c.325T>G	c.(325-327)Tga>Gga	p.*109G	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Nonstop_Mutation_p.*474G	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)	p.*474G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		ACCTCGACACTGAGGGCCCTC	0.522																																																1	Nonstop extension(1)	ovary(1)	21											156	143	148					21																	44329129		2203	4300	6503	43202198	SO:0001578	stop_lost	4731				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.325T>G	21.37:g.44329129T>G	ENSP00000342895:p.*109Glyext*5		43202198	A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Nonstop_Mutation	SNP	ENST00000340344.4	37	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.720516	0.48728	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5679	0.84603	0.0:0.0:0.0:1.0	.	.	.	.	G	474;109;113	.	.	X	+	1	0	NDUFV3	43202198	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	6.897000	0.75671	2.312000	0.78011	0.524000	0.50904	TGA		0.522	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			G	44329129	T	G	44329129	4	3	181	1	0	0	0	0	0	0	0	0	10301	1593	55	5	1434	5	NDUFV3	21	44329129	Nonstop_Mutation	SNP	T	TCGA-23-1110-01A-01D-0428-08		44329129	3800766	95	10288											
MXRA5	25878	broad.mit.edu	37	X	3241097	3241097	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chrX:3241097G>C	ENST00000217939.6	-	5	2783	c.2629C>G	c.(2629-2631)Cct>Gct	p.P877A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	877						extracellular vesicular exosome (GO:0070062)		p.P877A(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTACTTCAGGTTCAACAAGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	X											103	88	93					X																	3241097		2203	4300	6503	3251097	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2629C>G	X.37:g.3241097G>C	ENSP00000217939:p.Pro877Ala		3251097	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	6.652	0.488857	0.12641	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62105	0.05	3.31	2.41	0.29592	.	0.410860	0.17541	N	0.170555	T	0.38081	0.1027	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.28808	-1.0032	10	0.62326	D	0.03	.	6.5689	0.22527	0.0:0.3636:0.448:0.1885	.	877	Q9NR99	MXRA5_HUMAN	A	877	ENSP00000217939:P877A	ENSP00000217939:P877A	P	-	1	0	MXRA5	3251097	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.273000	0.08548	0.401000	0.25424	0.529000	0.55759	CCT		0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		C	3241097	G	C	3241097	3	2	181	1	0	0	0	0	1	0	0	0	10003	1261	44	3	5869	3	MXRA5	23	3241097	Missense_Mutation	SNP	G	TCGA-23-1110-01A-01D-0428-08		3241097	152029463	96	10289											
FRMPD4	9758	broad.mit.edu	37	X	12735839	12735839	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chrX:12735839C>A	ENST00000380682.1	+	16	3400	c.2894C>A	c.(2893-2895)cCa>cAa	p.P965Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	965					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.P965Q(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGCTTGCCTCCAAAGTCCTCG	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											64	67	66					X																	12735839		2203	4300	6503	12645760	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2894C>A	X.37:g.12735839C>A	ENSP00000370057:p.Pro965Gln		12645760	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	4.534	0.099171	0.08681	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05199	3.48	5.65	4.68	0.58851	.	0.598474	0.17640	N	0.167054	T	0.04861	0.0131	L	0.44542	1.39	0.23468	N	0.997613	B;P	0.36959	0.421;0.575	B;B	0.28849	0.095;0.095	T	0.38200	-0.9672	10	0.56958	D	0.05	-13.3607	3.2422	0.06784	0.0:0.5721:0.0:0.4279	.	957;965	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Q	965;956;954	ENSP00000370057:P965Q	ENSP00000304583:P954Q	P	+	2	0	FRMPD4	12645760	0.166000	0.22962	0.981000	0.43875	0.112000	0.19704	1.409000	0.34680	2.397000	0.81536	0.600000	0.82982	CCA		0.617	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		A	12735839	C	A	12735839	3	1	181	1	0	0	0	0	1	0	0	0	6059	594	21	3	2956	3	FRMPD4	23	12735839	Missense_Mutation	SNP	C	TCGA-23-1110-01A-01D-0428-08	9494742	12735839	142534721	97	10290											
ALAS2	212	broad.mit.edu	37	X	55042153	55042153	+	Silent	SNP	C	C	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chrX:55042153C>T	ENST00000330807.5	-	8	1163	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	ALAS2_ENST00000396198.3_Silent_p.E329E|ALAS2_ENST00000335854.4_Silent_p.E305E|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	342					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.E342E(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATCACACAACTCCTCGAGGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	X											83	58	67					X																	55042153		2203	4300	6503	55058878	SO:0001819	synonymous_variant	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1026G>A	X.37:g.55042153C>T			55058878	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	CCDS14366.1																																																																																				0.567	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		T	55042153	C	T	55042153	2	4	181	1	0	0	0	0	0	0	0	1	485	564	20	2		2	ALAS2	23	55042153	Silent	SNP	C	TCGA-23-1110-01A-01D-0428-08	42306314	55042153	100228407	98	10291											
CHM	1121	broad.mit.edu	37	X	85236776	85236776	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chrX:85236776A>T	ENST00000357749.2	-	3	183	c.154T>A	c.(154-156)Ttt>Att	p.F52I	CHM_ENST00000537751.1_Intron|CHM_ENST00000467744.2_Intron|CHM_ENST00000358786.4_Missense_Mutation_p.F52I	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	52					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.F52I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AGTCCTGAAAAGCTAAAACTG	0.318																																																1	Substitution - Missense(1)	ovary(1)	X											51	44	46					X																	85236776		2203	4299	6502	85123432	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.154T>A	X.37:g.85236776A>T	ENSP00000350386:p.Phe52Ile		85123432	A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982253	0.74474	.	.	ENSG00000188419	ENST00000357749;ENST00000358786	D;D	0.84873	-1.91;-1.91	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	N	0.21583	0.68	0.80722	D	1	D;P	0.89917	1.0;0.956	D;P	0.91635	0.999;0.812	D	0.86645	0.1894	10	0.56958	D	0.05	-10.1495	11.0076	0.47644	1.0:0.0:0.0:0.0	.	52;52	A1L4D2;P24386	.;RAE1_HUMAN	I	52	ENSP00000350386:F52I;ENSP00000362228:F52I	ENSP00000350386:F52I	F	-	1	0	CHM	85123432	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.605000	0.67634	1.577000	0.49804	0.417000	0.27973	TTT		0.318	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		T	85236776	A	T	85236776	3	4	181	1	0	0	0	0	1	0	0	0	3350	72	3	5	1882	5	CHM	23	85236776	Missense_Mutation	SNP	A	TCGA-23-1110-01A-01D-0428-08	30194623	85236776	70033784	99	10292											
PNMA5	114824	broad.mit.edu	37	X	152159720	152159720	+	Silent	SNP	T	T	C			TCGA-23-1110-01A-01D-0428-08	TCGA-23-1110-10A-01D-0428-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	da817198-59b9-4931-a893-86b0521370c3	bae2d953-6faf-49e3-9b76-08eb36a5109a	g.chrX:152159720T>C	ENST00000439251.1	-	2	861	c.423A>G	c.(421-423)caA>caG	p.Q141Q	PNMA5_ENST00000535214.1_Silent_p.Q141Q|PNMA5_ENST00000361887.5_Silent_p.Q141Q|PNMA5_ENST00000452693.1_Silent_p.Q141Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	141					positive regulation of apoptotic process (GO:0043065)			p.Q141Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATCTAACTTGGGGCATGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	X											147	151	149					X																	152159720		2203	4300	6503	151910376	SO:0001819	synonymous_variant	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.423A>G	X.37:g.152159720T>C			151910376	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	CCDS14718.1																																																																																				0.542	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		C	152159720	T	C	152159720	2	2	181	1	0	0	0	0	0	0	0	1	12156	1606	56	4		4	PNMA5	23	152159720	Silent	SNP	T	TCGA-23-1110-01A-01D-0428-08	66922944	152159720	3110840	100	10293											
PRAMEF12	390999	genome.wustl.edu	37	1	12837355	12837355	+	Silent	SNP	A	A	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:12837355A>G	ENST00000357726.4	+	3	1092	c.1065A>G	c.(1063-1065)ttA>ttG	p.L355L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	355					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGGACTTAGAGGACTGTG	0.592																																																0			1											94	94	94					1																	12837355		2203	4300	6503	12759942	SO:0001819	synonymous_variant	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1065A>G	1.37:g.12837355A>G			12759942		Silent	SNP	ENST00000357726.4	37	CCDS41254.1																																																																																				0.592	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		G	12837355	A	G	12837355	2	3	182	1	0	0	0	0	0	0	0	1	12431	417	15	4		4	PRAMEF12	1	12837355	Silent	SNP	A	TCGA-23-1111-01A-01W-0639-09		12837355	236413266	1	10294											
ASH1L	55870	genome.wustl.edu	37	1	155324364	155324364	+	Silent	SNP	T	T	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:155324364T>C	ENST00000368346.3	-	16	7767	c.7128A>G	c.(7126-7128)caA>caG	p.Q2376Q	ASH1L_ENST00000392403.3_Silent_p.Q2371Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2376					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTGTTTTTGACGAATCT	0.378																																																0			1											220	192	202					1																	155324364		2203	4300	6503	153590988	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7128A>G	1.37:g.155324364T>C			153590988	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																					0.378	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		C	155324364	T	C	155324364	2	2	182	1	0	0	0	0	0	0	0	1	1041	1838	64	4		4	ASH1L	1	155324364	Silent	SNP	T	TCGA-23-1111-01A-01W-0639-09	142487009	155324364	93926257	2	10295											
C1orf125	126859	genome.wustl.edu	37	1	179335673	179335673	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:179335673C>T	ENST00000367618.3	+	2	416	c.29C>T	c.(28-30)cCg>cTg	p.P10L	AXDND1_ENST00000457238.2_Missense_Mutation_p.P10L|RN7SL374P_ENST00000577343.1_RNA|AXDND1_ENST00000461179.2_Intron	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	10										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CCCTCCACCCCGCTAAACTCT	0.403																																																0			1											89	85	86					1																	179335673		2203	4300	6503	177602296	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.29C>T	1.37:g.179335673C>T	ENSP00000356590:p.Pro10Leu		177602296	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	5.679	0.309771	0.10733	.	.	ENSG00000162779	ENST00000367618;ENST00000508229;ENST00000457238;ENST00000508285	T;T	0.48201	2.14;0.82	3.49	1.2	0.21068	.	1.144270	0.06891	N	0.804221	T	0.19327	0.0464	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23691	-1.0181	10	0.10377	T	0.69	4.1529	5.2049	0.15285	0.0:0.5842:0.0:0.4158	.	10	Q5T1B0	AXDN1_HUMAN	L	10	ENSP00000356590:P10L;ENSP00000416712:P10L	ENSP00000356590:P10L	P	+	2	0	AXDND1	177602296	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	0.216000	0.17585	0.122000	0.18314	0.297000	0.19635	CCG		0.403	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		T	179335673	C	T	179335673	3	4	182	1	0	0	0	0	1	0	0	0	1993	652	23	1	31	1	C1orf125	1	179335673	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09	24011309	179335673	69914948	3	10296											
CEP350	9857	genome.wustl.edu	37	1	180061940	180061940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:180061940G>T	ENST00000367607.3	+	34	7118	c.6700G>T	c.(6700-6702)Gaa>Taa	p.E2234*	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2234					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTTCTCAAAGAATTAAATGC	0.333																																																0			1											20	20	20					1																	180061940		2195	4294	6489	178328563	SO:0001587	stop_gained	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6700G>T	1.37:g.180061940G>T	ENSP00000356579:p.Glu2234*		178328563	O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.150812|5.150812	0.94645|0.94645	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	.|.	.|.	.|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.162995|.	0.28630|.	N|.	0.014670|.	.|T	.|0.72431	.|0.3459	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73332	.|-0.4016	.|3	.|.	.|.	.|.	.|.	16.862|16.862	0.86021|0.86021	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2234|408	.|.	.|.	E|R	+|+	1|2	0|0	CEP350|CEP350	178328563|178328563	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.833000|0.833000	0.47200|0.47200	5.865000|5.865000	0.69583|0.69583	2.422000|2.422000	0.82143|0.82143	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.333	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		T	180061940	G	T	180061940	4	4	182	1	0	0	0	0	0	1	0	0	3254	943	33	3	6830	3	CEP350	1	180061940	Nonsense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	726267	180061940	69188681	4	10297											
NCF2	4688	genome.wustl.edu	37	1	183532573	183532573	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:183532573G>C	ENST00000367535.3	-	12	1425	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V	NCF2_ENST00000418089.1_Missense_Mutation_p.L311V|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367536.1_Missense_Mutation_p.L392V|NCF2_ENST00000413720.1_Missense_Mutation_p.L347V	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	392	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GCTCACCTCAGCTTAGTGTGT	0.557																																																0			1											136	142	140					1																	183532573		2203	4300	6503	181799196	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1174C>G	1.37:g.183532573G>C	ENSP00000356505:p.Leu392Val		181799196	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507710	0.85282	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.74	5.74	0.90152	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	M	0.83483	2.645	0.53688	D	0.999975	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.84974	0.0884	10	0.62326	D	0.03	.	18.1482	0.89665	0.0:0.0:1.0:0.0	.	311;347;392	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	V	392;464;347;311;392;43;131	ENSP00000356506:L392V;ENSP00000399294:L347V;ENSP00000407217:L311V;ENSP00000356505:L392V;ENSP00000397228:L43V;ENSP00000406198:L131V	ENSP00000356505:L392V	L	-	1	2	NCF2	181799196	1.000000	0.71417	0.970000	0.41538	0.889000	0.51656	6.438000	0.73426	2.727000	0.93392	0.650000	0.86243	CTG		0.557	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		C	183532573	G	C	183532573	3	2	182	1	0	0	0	0	1	0	0	0	10217	962	34	3	422	3	NCF2	1	183532573	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	3470633	183532573	65718048	5	10298											
USH2A	7399	genome.wustl.edu	37	1	216270450	216270450	+	Missense_Mutation	SNP	C	C	T	rs552928943		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:216270450C>T	ENST00000307340.3	-	22	5119	c.4733G>A	c.(4732-4734)cGt>cAt	p.R1578H	USH2A_ENST00000366943.2_Missense_Mutation_p.R1578H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1578	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAATAAAGACGTCCCTTCTT	0.373										HNSCC(13;0.011)																																						0			1											63	62	62					1																	216270450		2203	4300	6503	214337073	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4733G>A	1.37:g.216270450C>T	ENSP00000305941:p.Arg1578His		214337073	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274609	0.59649	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78246	-1.16;-1.16	6.06	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.148676	0.31246	N	0.007990	T	0.75339	0.3836	L	0.58810	1.83	0.44789	D	0.997795	B	0.24368	0.102	B	0.23419	0.046	T	0.72711	-0.4211	10	0.48119	T	0.1	.	15.4089	0.74902	0.0:0.9337:0.0:0.0663	.	1578	O75445	USH2A_HUMAN	H	1578	ENSP00000305941:R1578H;ENSP00000355910:R1578H	ENSP00000305941:R1578H	R	-	2	0	USH2A	214337073	0.977000	0.34250	0.859000	0.33776	0.987000	0.75469	2.424000	0.44714	1.576000	0.49790	0.655000	0.94253	CGT		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216270450	C	T	216270450	3	4	182	1	0	0	0	0	1	0	0	0	17036	536	19	1	11079	1	USH2A	1	216270450	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09	32737877	216270450	32980171	6	10299											
RGS7	6000	genome.wustl.edu	37	1	240979637	240979637	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr1:240979637C>T	ENST00000407727.1	-	10	762	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	RGS7_ENST00000348120.2_Missense_Mutation_p.E202K|RGS7_ENST00000401882.1_Missense_Mutation_p.E202K|RGS7_ENST00000446183.2_Missense_Mutation_p.E171K|RGS7_ENST00000331110.7_Missense_Mutation_p.E229K|RGS7_ENST00000366565.1_Missense_Mutation_p.E255K|RGS7_ENST00000366563.1_Missense_Mutation_p.E255K|RGS7_ENST00000366564.1_Missense_Mutation_p.E255K|RGS7_ENST00000366562.4_Missense_Mutation_p.E255K			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	255	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AACTCATCTTCTGTTGGAGGT	0.358																																																0			1											281	253	263					1																	240979637		2203	4300	6503	239046260	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.763G>A	1.37:g.240979637C>T	ENSP00000384428:p.Glu255Lys		239046260	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	C	9.089	1.001258	0.19121	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34	6.07	4.18	0.49190	G-protein gamma domain (3);	0.050576	0.85682	D	0.000000	T	0.03827	0.0108	N	0.00419	-1.52	0.49798	D	0.999826	B;B;B;B;B;B;B	0.15141	0.0;0.001;0.01;0.0;0.001;0.0;0.012	B;B;B;B;B;B;B	0.18871	0.006;0.013;0.013;0.002;0.013;0.001;0.023	T	0.30268	-0.9984	10	0.05833	T	0.94	-20.8448	9.7501	0.40470	0.0:0.6622:0.2686:0.0692	.	171;229;202;255;255;255;255	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	K	229;255;255;255;86;202;171;255;255;202	ENSP00000331485:E229K;ENSP00000355523:E255K;ENSP00000355522:E255K;ENSP00000355521:E255K;ENSP00000404399:E86K;ENSP00000341242:E202K;ENSP00000390138:E171K;ENSP00000355520:E255K;ENSP00000384428:E255K;ENSP00000385508:E202K	ENSP00000331485:E229K	E	-	1	0	RGS7	239046260	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.493000	0.45320	0.871000	0.35750	0.655000	0.94253	GAA		0.358	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		T	240979637	C	T	240979637	3	4	182	1	0	0	0	0	1	0	0	0	13313	922	32	2	732	2	RGS7	1	240979637	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09	24709187	240979637	8270984	7	10300											
CNGA3	1261	genome.wustl.edu	37	2	99013327	99013327	+	Missense_Mutation	SNP	C	C	T	rs201747279		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:99013327C>T	ENST00000272602.2	+	7	1733	c.1694C>T	c.(1693-1695)aCg>aTg	p.T565M	CNGA3_ENST00000393504.1_Missense_Mutation_p.T565M|CNGA3_ENST00000409937.1_Missense_Mutation_p.T569M|CNGA3_ENST00000436404.2_Missense_Mutation_p.T547M			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	565			T -> M (in ACHM2). {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:15712225}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AACCGCAGGACGGCCAACATC	0.587																																																0			2	GRCh37	CM014558	CNGA3	M		C	MET/THR,MET/THR	0,4406		0,0,2203	124	120	122		1640,1694	5.4	1	2		122	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CNGA3	NM_001079878.1,NM_001298.2	81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	547/677,565/695	99013327	2,13004	2203	4300	6503	98379759	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1694C>T	2.37:g.99013327C>T	ENSP00000272602:p.Thr565Met		98379759	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266669	0.80358	0.0	2.33E-4	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.42	5.42	0.78866	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97253	0.9102	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.966	D	0.97633	1.0143	10	0.87932	D	0	.	18.154	0.89686	0.0:1.0:0.0:0.0	.	569;547;565	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	M	565;547;565;569	ENSP00000377140:T565M;ENSP00000410070:T547M;ENSP00000272602:T565M;ENSP00000386761:T569M	ENSP00000272602:T565M	T	+	2	0	CNGA3	98379759	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	7.320000	0.79064	2.826000	0.97356	0.563000	0.77884	ACG		0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		T	99013327	C	T	99013327	3	4	182	1	0	0	0	0	1	0	0	0	3598	536	19	1	1720	1	CNGA3	2	99013327	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09		99013327	144186046	8	10301											
PKP4	8502	genome.wustl.edu	37	2	159433807	159433807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:159433807C>T	ENST00000389759.3	+	3	269	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PKP4_ENST00000389757.3_Nonsense_Mutation_p.R53*	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	53					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)				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						GCGACTCACCCGAGAACTGGA	0.468										HNSCC(62;0.18)																																						0			2											83	74	77					2																	159433807		2203	4300	6503	159142053	SO:0001587	stop_gained	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.157C>T	2.37:g.159433807C>T	ENSP00000374409:p.Arg53*		159142053	Q86W91	Nonsense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	38	7.086662	0.98055	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	.	.	.	6.16	2.91	0.33838	.	0.175388	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.448	14.5523	0.68075	0.7279:0.2721:0.0:0.0	.	.	.	.	X	53	.	ENSP00000374407:R53X	R	+	1	2	PKP4	159142053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.544000	0.53640	0.770000	0.33336	0.650000	0.86243	CGA		0.468	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			T	159433807	C	T	159433807	4	4	182	1	0	0	0	0	0	1	0	0	11987	644	23	1	163	1	PKP4	2	159433807	Nonsense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09	60420480	159433807	83765566	9	10302											
TTN	7273	genome.wustl.edu	37	2	179502115	179502115	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:179502115C>G	ENST00000591111.1	-	174	36209	c.35985G>C	c.(35983-35985)aaG>aaC	p.K11995N	TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K4696N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K4571N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K4763N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K13636N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K11068N			Q8WZ42	TITIN_HUMAN	titin	11995	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCTTTTGGCTTGGCAGCCT	0.338																																																0			2											49	50	50					2																	179502115		1809	4072	5881	179210360	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35985G>C	2.37:g.179502115C>G	ENSP00000465570:p.Lys11995Asn		179210360	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.06	1.824654	0.32237	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70516	-0.49;-0.06;-0.08;-0.1	5.4	1.03	0.20045	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.70254	0.3203	L	0.53249	1.67	0.31210	N	0.698728	D;D;D;D	0.55385	0.971;0.971;0.971;0.971	P;P;P;P	0.49012	0.598;0.598;0.598;0.598	T	0.71971	-0.4431	9	0.87932	D	0	.	11.2836	0.49210	0.0:0.7058:0.0:0.2941	.	4571;4696;4763;11995	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	11068;4571;4763;4696;4571	ENSP00000343764:K11068N;ENSP00000434586:K4571N;ENSP00000340554:K4763N;ENSP00000352154:K4696N	ENSP00000340554:K4763N	K	-	3	2	TTN	179210360	0.980000	0.34600	0.997000	0.53966	0.945000	0.59286	0.014000	0.13333	0.259000	0.21709	-0.266000	0.10368	AAG		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179502115	C	G	179502115	3	3	182	1	0	0	0	0	1	0	0	0	16735	796	28	3	67341	3	TTN	2	179502115	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09	20068308	179502115	63697258	10	10303											
IKZF2	22807	genome.wustl.edu	37	2	213872250	213872250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:213872250delT	ENST00000434687.1	-	9	1724	c.1415delA	c.(1414-1416)aagfs	p.K472fs	IKZF2_ENST00000374319.4_Frame_Shift_Del_p.K446fs|IKZF2_ENST00000451136.2_Frame_Shift_Del_p.K400fs|IKZF2_ENST00000374327.4_Frame_Shift_Del_p.K327fs|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000457361.1_Frame_Shift_Del_p.K472fs|IKZF2_ENST00000342002.2_Frame_Shift_Del_p.K478fs|IKZF2_ENST00000421754.2_Frame_Shift_Del_p.K398fs			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	472					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTGCTCACACTTGAAGGCCCT	0.502																																																0			2											183	174	177					2																	213872250		2203	4300	6503	213580495	SO:0001589	frameshift_variant	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1415delA	2.37:g.213872250delT	ENSP00000412869:p.Lys472fs		213580495	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Frame_Shift_Del	DEL	ENST00000434687.1	37	CCDS2395.1																																																																																				0.502	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		-	213872250	T	-	213872250	7	5	182	1	0	1	0	1	0	0	0	0	7615	1609	56	0	169	0	IKZF2	2	213872250	Frame_Shift_Del	DEL	T	TCGA-23-1111-01A-01W-0639-09	34370135	213872250	29327123	11	10304	19	2									
IKZF2	22807	genome.wustl.edu	37	2	213872253	213872257	+	Frame_Shift_Del	DEL	AAGGC	AAGGC	-			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	AAGGC	AAGGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:213872253_213872257delAAGGC	ENST00000434687.1	-	9	1717_1721	c.1408_1412delGCCTT	c.(1408-1413)gccttcfs	p.AF470fs	IKZF2_ENST00000374319.4_Frame_Shift_Del_p.AF444fs|IKZF2_ENST00000451136.2_Frame_Shift_Del_p.AF398fs|IKZF2_ENST00000374327.4_Frame_Shift_Del_p.AF325fs|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000457361.1_Frame_Shift_Del_p.AF470fs|IKZF2_ENST00000342002.2_Frame_Shift_Del_p.AF476fs|IKZF2_ENST00000421754.2_Frame_Shift_Del_p.AF396fs			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	470					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTCACACTTGAAGGCCCTAATCTGT	0.493																																																0			2																																								213580502	SO:0001589	frameshift_variant	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1408_1412delGCCTT	2.37:g.213872253_213872257delAAGGC	ENSP00000412869:p.Ala470fs		213580498	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Frame_Shift_Del	DEL	ENST00000434687.1	37	CCDS2395.1																																																																																				0.493	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		-	213872257	AAGGC	-	213872253	7	5	182	1	0	1	0	1	0	0	0	0	7615	246	9	0	172	0	IKZF2	2	213872253	Frame_Shift_Del	DEL	AAGGC	TCGA-23-1111-01A-01W-0639-09	3	213872253	29327120	12	10305	19	2									
INPP5D	3635	genome.wustl.edu	37	2	234079715	234079715	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr2:234079715G>A	ENST00000359570.5	+	19	1870	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.E388K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E388K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	636					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTCAGAGGAGGAAGAAATCAC	0.473																																					NSCLC(82;1215 1426 16163 20348 41018)											0			2											66	67	67					2																	234079715		1895	4108	6003	233743778	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1870G>A	2.37:g.234079715G>A	ENSP00000352575:p.Glu624Lys		233743778	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.648840	0.87958	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	4.34	4.34	0.51931	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.109437	0.64402	D	0.000010	D	0.89287	0.6672	.	.	.	0.54753	D	0.999982	D;D	0.89917	1.0;0.996	D;D	0.75020	0.985;0.949	D	0.90341	0.4359	9	0.52906	T	0.07	.	17.2149	0.86940	0.0:0.0:1.0:0.0	.	635;636	Q92835-2;Q92835	.;SHIP1_HUMAN	K	624;388;388;257;257;257	ENSP00000352575:E624K;ENSP00000407916:E388K;ENSP00000404610:E388K;ENSP00000400151:E257K;ENSP00000397421:E257K;ENSP00000405338:E257K	ENSP00000352575:E624K	E	+	1	0	INPP5D	233743778	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.184000	0.94893	2.142000	0.66516	0.561000	0.74099	GAA		0.473	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		A	234079715	G	A	234079715	3	1	182	1	0	0	0	0	1	0	0	0	7756	1175	41	2	1480	2	INPP5D	2	234079715	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	20207462	234079715	9119658	13	10306											
TRAK1	22906	genome.wustl.edu	37	3	42251732	42251732	+	Intron	SNP	G	G	A	rs374428098		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:42251732G>A	ENST00000327628.5	+	14	2363				TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000341421.3_Missense_Mutation_p.A682T	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGTAGCTTCCGCTCGTCTGTG	0.478																																					GBM(44;195 884 22595 31865 41850)											0			3											263	278	273					3																	42251732		2203	4300	6503	42226736	SO:0001627	intron_variant	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+255G>A	3.37:g.42251732G>A			42226736	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180063	0.78564	.	.	ENSG00000182606	ENST00000341421	T	0.09538	2.97	5.41	4.52	0.55395	.	.	.	.	.	T	0.09905	0.0243	N	0.19112	0.55	0.21020	N	0.999802	.	.	.	.	.	.	T	0.33111	-0.9881	6	.	.	.	.	13.1405	0.59432	0.0:0.0:0.8399:0.1601	.	.	.	.	T	682	ENSP00000340702:A682T	.	A	+	1	0	TRAK1	42226736	1.000000	0.71417	0.564000	0.28396	0.956000	0.61745	4.720000	0.61944	1.373000	0.46208	0.655000	0.94253	GCT		0.478	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		A	42251732	G	A	42251732	1	1	182	0	1	0	0	0	0	0	0	0	16449	1087	38	1		1	TRAK1	3	42251732	Intron	SNP	G	TCGA-23-1111-01A-01W-0639-09		42251732	155770698	14	10307											
MAP4	4134	genome.wustl.edu	37	3	47960286	47960286	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:47960286A>G	ENST00000360240.6	-	6	1093	c.575T>C	c.(574-576)gTg>gCg	p.V192A	MAP4_ENST00000395734.3_Missense_Mutation_p.V192A|MAP4_ENST00000426837.2_Missense_Mutation_p.V209A|MAP4_ENST00000383737.4_Missense_Mutation_p.V192A	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	192					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TAAGGCTTCCACAGACCACCC	0.438																																																0			3											100	93	95					3																	47960286		2203	4300	6503	47935290	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.575T>C	3.37:g.47960286A>G	ENSP00000353375:p.Val192Ala		47935290	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.18|10.18	1.280013|1.280013	0.23392|0.23392	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240|ENST00000423088	T;T;T;T|.	0.12361|.	2.69;2.8;2.83;2.79|.	4.51|4.51	2.1|2.1	0.27182|0.27182	.|.	.|.	.|.	.|.	.|.	T|T	0.38268|0.38268	0.1034|0.1034	L|L	0.28115|0.28115	0.83|0.83	0.45594|0.45594	D|D	0.998533|0.998533	B;B;B|.	0.16396|.	0.017;0.013;0.002|.	B;B;B|.	0.14578|.	0.007;0.011;0.004|.	T|T	0.07385|0.07385	-1.0775|-1.0775	9|5	0.51188|.	T|.	0.08|.	-0.8173|-0.8173	4.772|4.772	0.13160|0.13160	0.7103:0.1909:0.0988:0.0|0.7103:0.1909:0.0988:0.0	.|.	169;192;192|.	C9JFC3;P27816-6;P27816|.	.;.;MAP4_HUMAN|.	A|R	192;192;209;192|161	ENSP00000373243:V192A;ENSP00000379083:V192A;ENSP00000407602:V209A;ENSP00000353375:V192A|.	ENSP00000353375:V192A|.	V|W	-|-	2|1	0|0	MAP4|MAP4	47935290|47935290	0.304000|0.304000	0.24472|0.24472	0.640000|0.640000	0.29408|0.29408	0.386000|0.386000	0.30323|0.30323	1.347000|1.347000	0.33975|0.33975	0.345000|0.345000	0.23873|0.23873	-0.429000|-0.429000	0.05907|0.05907	GTG|TGG		0.438	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		G	47960286	A	G	47960286	3	3	182	1	0	0	0	0	1	0	0	0	9258	159	6	4	4298	4	MAP4	3	47960286	Missense_Mutation	SNP	A	TCGA-23-1111-01A-01W-0639-09	5708554	47960286	150062144	15	10308											
UBA7	7318	genome.wustl.edu	37	3	49849924	49849924	+	Missense_Mutation	SNP	C	C	T	rs199791699		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:49849924C>T	ENST00000333486.3	-	6	769	c.611G>A	c.(610-612)cGt>cAt	p.R204H	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	204	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTCTCCATCACGGAAGTAGTG	0.572																																																0			3											81	76	78					3																	49849924		2203	4300	6503	49824928	SO:0001583	missense	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.611G>A	3.37:g.49849924C>T	ENSP00000333266:p.Arg204His		49824928	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392420	0.42410	.	.	ENSG00000182179	ENST00000333486	T	0.30448	1.53	5.46	-4.99	0.03010	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	1.802330	0.01983	N	0.044960	T	0.10895	0.0266	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23797	-1.0178	10	0.52906	T	0.07	6.3175	4.3259	0.11039	0.1051:0.2416:0.1042:0.5492	.	204	P41226	UBA7_HUMAN	H	204	ENSP00000333266:R204H	ENSP00000333266:R204H	R	-	2	0	UBA7	49824928	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.706000	0.05047	-0.813000	0.04357	0.462000	0.41574	CGT		0.572	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		T	49849924	C	T	49849924	3	4	182	1	0	0	0	0	1	0	0	0	16833	536	19	1	2503	1	UBA7	3	49849924	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09	1889638	49849924	148172506	16	10309											
PTPRG	5793	genome.wustl.edu	37	3	61975339	61975339	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:61975339C>G	ENST00000474889.1	+	3	608	c.231C>G	c.(229-231)agC>agG	p.S77R	PTPRG_ENST00000295874.10_Missense_Mutation_p.S77R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	77	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTAGTGTCAGCTGTGGGGGCC	0.493																																																0			3											96	87	90					3																	61975339		2203	4300	6503	61950379	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.231C>G	3.37:g.61975339C>G	ENSP00000418112:p.Ser77Arg		61950379	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288494	0.40494	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.67171	-0.25;-0.25	5.65	4.59	0.56863	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.351549	0.34700	N	0.003755	T	0.51517	0.1679	L	0.31804	0.96	0.33931	D	0.642031	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.59311	-0.7478	10	0.54805	T	0.06	.	8.4767	0.33018	0.0:0.6981:0.154:0.1479	.	77;77	P23470-2;P23470	.;PTPRG_HUMAN	R	77	ENSP00000418112:S77R;ENSP00000295874:S77R	ENSP00000295874:S77R	S	+	3	2	PTPRG	61950379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.289000	0.33307	2.650000	0.89964	0.655000	0.94253	AGC		0.493	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		G	61975339	C	G	61975339	3	3	182	1	0	0	0	0	1	0	0	0	12805	796	28	3	241	3	PTPRG	3	61975339	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09	12125415	61975339	136047091	17	10310											
ALDH1L1	10840	genome.wustl.edu	37	3	125854451	125854451	+	Missense_Mutation	SNP	C	C	T	rs369044554		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr3:125854451C>T	ENST00000393434.2	-	12	1748	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	467	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGGCTGCGGCCACTGCC	0.602																																																0			3											141	110	121					3																	125854451		2203	4300	6503	127337141	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1399G>A	3.37:g.125854451C>T	ENSP00000377083:p.Ala467Thr		127337141	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882415	0.33255	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.16	3.29	0.37713	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.200686	0.40640	N	0.001053	D	0.82903	0.5138	M	0.88031	2.925	0.80722	D	1	P;P;B	0.52577	0.954;0.592;0.363	B;B;B	0.44085	0.44;0.244;0.1	D	0.84958	0.0875	10	0.72032	D	0.01	.	10.254	0.43385	0.0:0.9007:0.0:0.0993	.	366;519;467	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	T	477;467;366;467;467	ENSP00000273450:A477T;ENSP00000420293:A467T;ENSP00000395881:A366T;ENSP00000377083:A467T;ENSP00000377081:A467T	ENSP00000273450:A477T	A	-	1	0	ALDH1L1	127337141	0.998000	0.40836	0.351000	0.25721	0.004000	0.04260	3.988000	0.56951	1.125000	0.41998	-0.368000	0.07277	GCA		0.602	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		T	125854451	C	T	125854451	3	4	182	1	0	0	0	0	1	0	0	0	494	768	27	1	1357	1	ALDH1L1	3	125854451	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09	63879112	125854451	72167979	18	10311											
GUCY1A3	2982	genome.wustl.edu	37	4	156632014	156632014	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr4:156632014G>A	ENST00000296518.7	+	6	906	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V233M|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V233M|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V233M|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V233M|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V233M			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	233					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGAAGTGGAAGTGTCGTTAAT	0.458																																																0			4											124	118	120					4																	156632014		2203	4300	6503	156851464	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.697G>A	4.37:g.156632014G>A	ENSP00000296518:p.Val233Met		156851464	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616777	0.66672	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.74	5.74	0.90152	Heme-NO binding (1);	0.000000	0.56097	D	0.000021	T	0.71213	0.3313	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67413	-0.5677	10	0.36615	T	0.2	.	20.2908	0.98543	0.0:0.0:1.0:0.0	.	233;233;233	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	M	233	ENSP00000424361:V233M;ENSP00000421493:V233M;ENSP00000426968:V233M;ENSP00000412201:V233M;ENSP00000296518:V233M;ENSP00000426040:V233M	ENSP00000296518:V233M	V	+	1	0	GUCY1A3	156851464	1.000000	0.71417	0.905000	0.35620	0.139000	0.21198	7.257000	0.78362	2.861000	0.98227	0.643000	0.83706	GTG		0.458	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			A	156632014	G	A	156632014	3	1	182	1	0	0	0	0	1	0	0	0	6894	1029	36	2	711	2	GUCY1A3	4	156632014	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09		156632014	34522262	19	10312											
HTR1A	3350	genome.wustl.edu	37	5	63256709	63256709	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr5:63256709C>T	ENST00000323865.3	-	1	1071	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	280					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGCCTCACCGCGCCATTGGCG	0.662																																																0			5											47	44	45					5																	63256709		2203	4300	6503	63292465	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.838G>A	5.37:g.63256709C>T	ENSP00000316244:p.Ala280Thr		63292465	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589864	0.46214	.	.	ENSG00000178394	ENST00000323865	T	0.63096	-0.02	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.059916	0.64402	D	0.000004	T	0.70307	0.3209	L	0.49455	1.56	0.58432	D	0.999998	D	0.71674	0.998	P	0.61722	0.893	T	0.63139	-0.6704	10	0.13853	T	0.58	.	17.8521	0.88750	0.0:1.0:0.0:0.0	.	280	P08908	5HT1A_HUMAN	T	280	ENSP00000316244:A280T	ENSP00000316244:A280T	A	-	1	0	HTR1A	63292465	0.998000	0.40836	0.821000	0.32701	0.489000	0.33432	4.614000	0.61183	2.692000	0.91855	0.655000	0.94253	GCG		0.662	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		T	63256709	C	T	63256709	3	4	182	1	0	0	0	0	1	0	0	0	7436	768	27	1	433	1	HTR1A	5	63256709	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09		63256709	117658551	20	10313											
FAM53C	51307	genome.wustl.edu	37	5	137681226	137681226	+	Silent	SNP	T	T	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr5:137681226T>G	ENST00000239906.5	+	4	1277	c.849T>G	c.(847-849)acT>acG	p.T283T	FAM53C_ENST00000434981.2_Silent_p.T283T|FAM53C_ENST00000513056.1_Missense_Mutation_p.L93R|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	283										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCGCAAAACTGGGGTCAAGC	0.627																																																0			5											49	59	56					5																	137681226		2203	4300	6503	137709125	SO:0001819	synonymous_variant	51307			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.849T>G	5.37:g.137681226T>G			137709125	B2RDJ5|D3DQB9	Silent	SNP	ENST00000239906.5	37	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306346	0.23736	.	.	ENSG00000120709	ENST00000513056	T	0.55760	0.5	5.55	4.4	0.53042	.	.	.	.	.	T	0.68210	0.2976	.	.	.	0.25298	N	0.989306	D	0.71674	0.998	D	0.65443	0.935	T	0.59936	-0.7360	8	0.87932	D	0	-1.1893	10.4863	0.44724	0.0:0.0765:0.0:0.9235	.	93	D6RE00	.	R	93	ENSP00000425154:L93R	ENSP00000425154:L93R	L	+	2	0	FAM53C	137709125	0.032000	0.19561	1.000000	0.80357	0.999000	0.98932	0.139000	0.16036	1.135000	0.42183	0.533000	0.62120	CTG		0.627	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		G	137681226	T	G	137681226	2	3	182	1	0	0	0	0	0	0	0	1	5581	1567	55	5		5	FAM53C	5	137681226	Silent	SNP	T	TCGA-23-1111-01A-01W-0639-09	74424517	137681226	43234034	21	10314											
GRIA1	2890	genome.wustl.edu	37	5	153144084	153144084	+	Silent	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr5:153144084G>A	ENST00000285900.5	+	12	2257	c.1914G>A	c.(1912-1914)ctG>ctA	p.L638L	GRIA1_ENST00000448073.4_Silent_p.L648L|GRIA1_ENST00000521843.2_Silent_p.L569L|GRIA1_ENST00000518783.1_Silent_p.L648L|GRIA1_ENST00000340592.5_Silent_p.L638L|GRIA1_ENST00000518142.1_Silent_p.L558L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	638					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCGCCTTCCTGACCGTGGAGA	0.547																																																0			5											122	103	109					5																	153144084		2203	4300	6503	153124277	SO:0001819	synonymous_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1914G>A	5.37:g.153144084G>A			153124277	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1																																																																																				0.547	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			A	153144084	G	A	153144084	2	1	182	1	0	0	0	0	0	0	0	1	6767	1277	45	2		2	GRIA1	5	153144084	Silent	SNP	G	TCGA-23-1111-01A-01W-0639-09	15462858	153144084	27771176	22	10315											
HIST1H2AG	8969	genome.wustl.edu	37	6	27100953	27100953	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr6:27100953C>T	ENST00000359193.2	+	1	122	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	35						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCACCGCCTGCTCCGCAAAGG	0.682																																																0			6											31	36	35					6																	27100953		2203	4300	6503	27208932	SO:0001583	missense	8969			L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"Histones / Replication-dependent"	4737	protein-coding gene	gene with protein product		615012	"H2A histone family, member P", "histone 1, H2ag"	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.103C>T	6.37:g.27100953C>T	ENSP00000352119:p.Leu35Phe		27208932	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359193.2	37	CCDS4619.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490511	0.44249	.	.	ENSG00000196787	ENST00000359193	T	0.60797	0.16	4.08	4.08	0.47627	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.34986	N	0.003526	T	0.47637	0.1456	.	.	.	0.32274	N	0.568546	P	0.47841	0.901	P	0.49665	0.618	T	0.55477	-0.8135	9	0.87932	D	0	.	8.42	0.32694	0.0:0.8895:0.0:0.1105	.	35	P0C0S8	H2A1_HUMAN	F	35	ENSP00000352119:L35F	ENSP00000352119:L35F	L	+	1	0	HIST1H2AG	27208932	1.000000	0.71417	0.989000	0.46669	0.308000	0.27856	2.611000	0.46334	2.217000	0.71921	0.655000	0.94253	CTC		0.682	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		T	27100953	C	T	27100953	3	4	182	1	0	0	0	0	1	0	0	0	7133	797	28	2	105	2	HIST1H2AG	6	27100953	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09		27100953	144014114	23	10316											
OR2J2	26707	genome.wustl.edu	37	6	29141853	29141853	+	Silent	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr6:29141853G>A	ENST00000377167.2	+	1	543	c.441G>A	c.(439-441)gcG>gcA	p.A147A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTTGGTTGCGGCTTCTTGGG	0.463																																																0			6											295	269	278					6																	29141853		1981	4160	6141	29249832	SO:0001819	synonymous_variant	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.441G>A	6.37:g.29141853G>A			29249832	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	CCDS43434.1																																																																																				0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			A	29141853	G	A	29141853	2	1	182	1	0	0	0	0	0	0	0	1	11003	1103	39	1		1	OR2J2	6	29141853	Silent	SNP	G	TCGA-23-1111-01A-01W-0639-09	2040900	29141853	141973214	24	10317											
CDSN	170679	genome.wustl.edu	37	6	31084483	31084483	+	Intron	SNP	A	A	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr6:31084483A>C	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.S303S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GATAACTGTCAGAGGAGCCAC	0.552																																																0			6											34	33	33					6																	31084483		1957	3933	5890	31192462	SO:0001627	intron_variant	1041			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1815A>C	6.37:g.31084483A>C			31192462	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	CCDS34390.1																																																																																				0.552	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		C	31084483	A	C	31084483	1	2	182	0	1	0	0	0	0	0	0	0	3179	175	7	5		5	CDSN	6	31084483	Intron	SNP	A	TCGA-23-1111-01A-01W-0639-09	1942630	31084483	140030584	25	10318											
CUL9	23113	genome.wustl.edu	37	6	43154024	43154024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr6:43154024G>A	ENST00000252050.4	+	4	1166	c.1082G>A	c.(1081-1083)tGg>tAg	p.W361*	CUL9_ENST00000354495.3_Nonsense_Mutation_p.W361*|CUL9_ENST00000372647.2_Nonsense_Mutation_p.W361*	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	361					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGACAAGGGTGGGTCTTCCGC	0.577																																																0			6											76	79	78					6																	43154024		2203	4300	6503	43262002	SO:0001587	stop_gained	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1082G>A	6.37:g.43154024G>A	ENSP00000252050:p.Trp361*		43262002	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Nonsense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237890	0.95240	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	.	.	.	5.5	4.63	0.57726	.	1.264050	0.05032	N	0.474747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.8782	11.2137	0.48815	0.1472:0.0:0.8528:0.0	.	.	.	.	X	361	.	ENSP00000252050:W361X	W	+	2	0	CUL9	43262002	0.002000	0.14202	0.884000	0.34674	0.920000	0.55202	1.114000	0.31196	1.329000	0.45376	0.467000	0.42956	TGG		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43154024	G	A	43154024	4	1	182	1	0	0	0	0	0	1	0	0	4061	1357	47	2	1092	2	CUL9	6	43154024	Nonsense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	12069541	43154024	127961043	26	10319											
VPS37D	155382	genome.wustl.edu	37	7	73085387	73085387	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr7:73085387C>A	ENST00000324941.4	+	4	571	c.437C>A	c.(436-438)gCc>gAc	p.A146D	VPS37D_ENST00000451519.1_Missense_Mutation_p.A61D	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGCCTGGAGGCCTTCCTGCCT	0.697																																																0			7											21	24	23					7																	73085387		2037	4162	6199	72723323	SO:0001583	missense	155382			AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"Williams Beuren syndrome chromosome region 24", "vacuolar protein sorting 37D (yeast)"	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.437C>A	7.37:g.73085387C>A	ENSP00000320416:p.Ala146Asp		72723323		Missense_Mutation	SNP	ENST00000324941.4	37	CCDS43596.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026123	0.54683	.	.	ENSG00000176428	ENST00000324941;ENST00000451519	T;T	0.76186	-1.0;-1.0	4.18	4.18	0.49190	Modifier of rudimentary, Modr (2);	0.086068	0.45867	D	0.000335	T	0.68805	0.3041	N	0.04018	-0.295	0.37824	D	0.928472	D	0.65815	0.995	D	0.66602	0.945	T	0.77422	-0.2594	10	0.72032	D	0.01	.	11.8522	0.52417	0.0:1.0:0.0:0.0	.	146	Q86XT2	VP37D_HUMAN	D	146;61	ENSP00000320416:A146D;ENSP00000413337:A61D	ENSP00000320416:A146D	A	+	2	0	VPS37D	72723323	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	2.383000	0.44354	2.147000	0.66899	0.561000	0.74099	GCC		0.697	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		A	73085387	C	A	73085387	3	1	182	1	0	0	0	0	1	0	0	0	17208	739	26	3	451	3	VPS37D	7	73085387	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09		73085387	86053276	27	10320											
KCND2	3751	genome.wustl.edu	37	7	120372975	120372975	+	Silent	SNP	A	A	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr7:120372975A>C	ENST00000331113.4	+	2	2099	c.1134A>C	c.(1132-1134)ccA>ccC	p.P378P		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	378					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ACATGGTGCCAAAAACCATAG	0.373																																																0			7											148	135	139					7																	120372975		2203	4300	6503	120160211	SO:0001819	synonymous_variant	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1134A>C	7.37:g.120372975A>C			120160211	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	CCDS5776.1																																																																																				0.373	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		C	120372975	A	C	120372975	2	2	182	1	0	0	0	0	0	0	0	1	8019	117	5	5		5	KCND2	7	120372975	Silent	SNP	A	TCGA-23-1111-01A-01W-0639-09	47287588	120372975	38765688	28	10321											
TMEM139	135932	genome.wustl.edu	37	7	142983680	142983680	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr7:142983680G>A	ENST00000359333.3	+	3	922	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409244.1_Missense_Mutation_p.A137T|TMEM139_ENST00000410004.1_Missense_Mutation_p.A137T|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409102.1_Missense_Mutation_p.A137T|AC073342.12_ENST00000427392.1_RNA|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409541.1_Missense_Mutation_p.A137T	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	137						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					GTCCAGGAGAGCCAAACTGGA	0.617																																																0			7											75	77	76					7																	142983680		2203	4300	6503	142693802	SO:0001583	missense	135932			AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.409G>A	7.37:g.142983680G>A	ENSP00000352284:p.Ala137Thr		142693802	B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	37	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	G	7.058	0.565839	0.13560	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.1	1.18	0.20946	.	0.944877	0.08882	N	0.879899	T	0.41259	0.1151	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.34030	-0.9845	9	0.36615	T	0.2	0.0017	5.6598	0.17662	0.1723:0.3062:0.5215:0.0	.	137	Q8IV31	TM139_HUMAN	T	137	.	ENSP00000352284:A137T	A	+	1	0	TMEM139	142693802	0.108000	0.22018	0.003000	0.11579	0.007000	0.05969	0.719000	0.25881	0.017000	0.15025	-0.261000	0.10672	GCC		0.617	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		A	142983680	G	A	142983680	3	1	182	1	0	0	0	0	1	0	0	0	16054	971	34	2	415	2	TMEM139	7	142983680	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	22610705	142983680	16154983	29	10322											
GIMAP2	26157	genome.wustl.edu	37	7	150389657	150389657	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr7:150389657G>C	ENST00000223293.5	+	3	377	c.283G>C	c.(283-285)Gtg>Ctg	p.V95L		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	95	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		gtacaaagaggtgcagaggtg	0.522																																																0			7											66	62	64					7																	150389657		2203	4300	6503	150020590	SO:0001583	missense	26157			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.283G>C	7.37:g.150389657G>C	ENSP00000223293:p.Val95Leu		150020590	Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307488	0.23821	.	.	ENSG00000106560	ENST00000223293	T	0.06768	3.26	3.41	1.55	0.23275	AIG1 (1);	0.384828	0.22352	N	0.061193	T	0.05914	0.0154	L	0.31420	0.93	0.09310	N	0.99999	B	0.27765	0.188	B	0.28305	0.088	T	0.31668	-0.9935	10	0.52906	T	0.07	.	5.4996	0.16821	0.2702:0.0:0.7298:0.0	.	95	Q9UG22	GIMA2_HUMAN	L	95	ENSP00000223293:V95L	ENSP00000223293:V95L	V	+	1	0	GIMAP2	150020590	0.021000	0.18746	0.170000	0.22879	0.908000	0.53690	0.238000	0.18004	0.274000	0.22072	0.609000	0.83330	GTG		0.522	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		C	150389657	G	C	150389657	3	2	182	1	0	0	0	0	1	0	0	0	6380	1261	44	3	289	3	GIMAP2	7	150389657	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	7405977	150389657	8749006	30	10323											
RP1	6101	genome.wustl.edu	37	8	55533784	55533784	+	Silent	SNP	T	T	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr8:55533784T>G	ENST00000220676.1	+	2	406	c.258T>G	c.(256-258)ccT>ccG	p.P86P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	86	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGCACCCCTCGGGGCAGGC	0.587																																					Colon(91;1014 1389 7634 14542 40420)											0			8											100	82	88					8																	55533784		2203	4300	6503	55696337	SO:0001819	synonymous_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.258T>G	8.37:g.55533784T>G			55696337		Silent	SNP	ENST00000220676.1	37	CCDS6160.1																																																																																				0.587	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		G	55533784	T	G	55533784	2	3	182	1	0	0	0	0	0	0	0	1	13535	1538	54	5		5	RP1	8	55533784	Silent	SNP	T	TCGA-23-1111-01A-01W-0639-09		55533784	90830238	31	10324											
NIPSNAP3A	25934	genome.wustl.edu	37	9	107521369	107521369	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr9:107521369A>T	ENST00000374767.4	+	5	689	c.584A>T	c.(583-585)cAt>cTt	p.H195L	NIPSNAP3A_ENST00000471001.1_3'UTR	NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	195						cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TCTGCAGTTCATGTTCTTTGG	0.388																																																0			9											106	93	97					9																	107521369		2203	4300	6503	106561190	SO:0001583	missense	25934			BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.584A>T	9.37:g.107521369A>T	ENSP00000363899:p.His195Leu		106561190	A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	CCDS6760.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809144	0.70797	.	.	ENSG00000136783	ENST00000374767	T	0.51817	0.69	4.11	4.11	0.48088	Dimeric alpha-beta barrel (1);	0.099482	0.64402	D	0.000002	T	0.56321	0.1977	M	0.83852	2.665	0.58432	D	0.999996	P;P	0.44281	0.831;0.831	B;P	0.48425	0.438;0.577	T	0.58323	-0.7656	10	0.11485	T	0.65	.	13.543	0.61686	1.0:0.0:0.0:0.0	.	195;195	B4DW81;Q9UFN0	.;NPS3A_HUMAN	L	195	ENSP00000363899:H195L	ENSP00000363899:H195L	H	+	2	0	NIPSNAP3A	106561190	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	8.005000	0.88553	1.861000	0.53984	0.482000	0.46254	CAT		0.388	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469		T	107521369	A	T	107521369	3	4	182	1	0	0	0	0	1	0	0	0	10430	217	8	5	602	5	NIPSNAP3A	9	107521369	Missense_Mutation	SNP	A	TCGA-23-1111-01A-01W-0639-09		107521369	33692062	32	10325											
MKI67	4288	genome.wustl.edu	37	10	129904502	129904502	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr10:129904502C>T	ENST00000368654.3	-	13	5977	c.5602G>A	c.(5602-5604)Gac>Aac	p.D1868N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1508N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1868	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTGGGGTGTCCGCTGGGTCT	0.463																																																0			10											246	253	251					10																	129904502		2203	4300	6503	129794492	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5602G>A	10.37:g.129904502C>T	ENSP00000357643:p.Asp1868Asn		129794492	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	1.283	-0.609707	0.03690	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02421	4.3;4.3	3.13	-5.2	0.02823	.	1.540700	0.04453	N	0.372840	T	0.01627	0.0052	N	0.20766	0.605	0.09310	N	1	B;B;B	0.28713	0.006;0.22;0.145	B;B;B	0.25140	0.005;0.058;0.032	T	0.46414	-0.9193	10	0.13853	T	0.58	.	2.635	0.04955	0.1459:0.4675:0.1706:0.216	.	1867;1508;1868	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	1868;1508;1867	ENSP00000357643:D1868N;ENSP00000357642:D1508N	ENSP00000357642:D1508N	D	-	1	0	MKI67	129794492	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.476000	0.02333	-0.733000	0.04850	-0.291000	0.09656	GAC		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129904502	C	T	129904502	3	4	182	1	0	0	0	0	1	0	0	0	9598	855	30	2	4180	2	MKI67	10	129904502	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09		129904502	5630245	33	10326											
KIF18A	81930	genome.wustl.edu	37	11	28106228	28106228	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr11:28106228delG	ENST00000263181.6	-	7	1315	c.1025delC	c.(1024-1026)acafs	p.T342fs		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	342	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AGTGTTATATGTGTCATCGTA	0.373																																																0			11											129	127	128					11																	28106228		2202	4299	6501	28062804	SO:0001589	frameshift_variant	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1025delC	11.37:g.28106228delG	ENSP00000263181:p.Thr342fs		28062804	Q4VPE3|Q86VS5|Q9H0F3	Frame_Shift_Del	DEL	ENST00000263181.6	37	CCDS7867.1																																																																																				0.373	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		-	28106228	G	-	28106228	7	5	182	1	0	1	0	1	0	0	0	0	8280	1377	48	0	1715	0	KIF18A	11	28106228	Frame_Shift_Del	DEL	G	TCGA-23-1111-01A-01W-0639-09		28106228	106900288	34	10327											
VWF	7450	genome.wustl.edu	37	12	6103216	6103216	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr12:6103216G>T	ENST00000261405.5	-	37	6664	c.6410C>A	c.(6409-6411)tCc>tAc	p.S2137Y		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2137	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCAGTGGGAGCTGTCGGG	0.582																																																0			12											88	77	81					12																	6103216		2203	4300	6503	5973477	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6410C>A	12.37:g.6103216G>T	ENSP00000261405:p.Ser2137Tyr		5973477	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	8.352	0.831167	0.16820	.	.	ENSG00000110799	ENST00000261405	T	0.78003	-1.14	5.17	5.17	0.71159	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.170257	0.28612	N	0.014725	D	0.86904	0.6045	M	0.77103	2.36	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	D	0.87787	0.2616	10	0.56958	D	0.05	.	14.1299	0.65247	0.0:0.1621:0.8379:0.0	.	2137	P04275	VWF_HUMAN	Y	2137	ENSP00000261405:S2137Y	ENSP00000261405:S2137Y	S	-	2	0	VWF	5973477	0.273000	0.24181	0.993000	0.49108	0.056000	0.15407	1.598000	0.36740	2.413000	0.81919	0.561000	0.74099	TCC		0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6103216	G	T	6103216	3	4	182	1	0	0	0	0	1	0	0	0	17246	1174	41	3	2095	3	VWF	12	6103216	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09		6103216	127748679	35	10328											
C1RL	51279	genome.wustl.edu	37	12	7260932	7260932	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr12:7260932T>C	ENST00000266542.4	-	2	307	c.215A>G	c.(214-216)aAg>aGg	p.K72R	C1RL-AS1_ENST00000382215.3_RNA|C1RL_ENST00000544702.1_Missense_Mutation_p.K72R|C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000545337.1_Missense_Mutation_p.K72R|C1RL-AS1_ENST00000536679.1_RNA|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	72	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCTGGAGCCTTGATGTCCGT	0.632																																																0			12											80	81	81					12																	7260932		2203	4300	6503	7152208	SO:0001583	missense	51279			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.215A>G	12.37:g.7260932T>C	ENSP00000266542:p.Lys72Arg		7152208	Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.283249	0.23392	.	.	ENSG00000139178	ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	4.11	-0.0596	0.13792	CUB (5);	1.160520	0.06329	N	0.705837	T	0.06462	0.0166	N	0.11364	0.135	0.09310	N	0.999999	P;B;B	0.36837	0.571;0.103;0.002	B;B;B	0.33620	0.167;0.085;0.005	T	0.18272	-1.0342	10	0.07175	T	0.84	.	2.9467	0.05848	0.3857:0.1111:0.0:0.5032	.	72;72;72	F5GWF3;F5H7C8;Q9NZP8	.;.;C1RL_HUMAN	R	72	ENSP00000266542:K72R;ENSP00000441885:K72R;ENSP00000437398:K72R;ENSP00000442611:K72R	ENSP00000266542:K72R	K	-	2	0	C1RL	7152208	0.012000	0.17670	0.500000	0.27589	0.377000	0.30045	-0.177000	0.09796	0.206000	0.20587	0.460000	0.39030	AAG		0.632	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		C	7260932	T	C	7260932	3	2	182	1	0	0	0	0	1	0	0	0	1973	1609	56	4	1268	4	C1RL	12	7260932	Missense_Mutation	SNP	T	TCGA-23-1111-01A-01W-0639-09	1157716	7260932	126590963	36	10329											
NAV3	89795	genome.wustl.edu	37	12	78225284	78225284	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr12:78225284G>A	ENST00000397909.2	+	1	216	c.43G>A	c.(43-45)Gtt>Att	p.V15I	NAV3_ENST00000228327.6_Missense_Mutation_p.V15I|NAV3_ENST00000266692.7_Missense_Mutation_p.V15I|NAV3_ENST00000536525.2_Missense_Mutation_p.V15I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	15						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAGCCAGCTGTTGGGTCAAA	0.458										HNSCC(70;0.22)																																						0			12											168	167	167					12																	78225284		1903	4119	6022	76749415	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.43G>A	12.37:g.78225284G>A	ENSP00000381007:p.Val15Ile		76749415	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	16.46	3.130086	0.56721	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.61742	0.08;1.62;1.61;1.62;1.52	5.54	5.54	0.83059	Calponin homology domain (1);	.	.	.	.	T	0.47525	0.1450	N	0.19112	0.55	0.80722	D	1	B;B	0.28971	0.147;0.229	B;B	0.35278	0.098;0.199	T	0.50474	-0.8824	9	0.62326	D	0.03	-12.8001	13.7432	0.62860	0.0736:0.0:0.9264:0.0	.	15;15	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	15	ENSP00000446628:V15I;ENSP00000446132:V15I;ENSP00000381007:V15I;ENSP00000228327:V15I;ENSP00000266692:V15I	ENSP00000228327:V15I	V	+	1	0	NAV3	76749415	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.105000	0.57797	2.615000	0.88500	0.655000	0.94253	GTT		0.458	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78225284	G	A	78225284	3	1	182	1	0	0	0	0	1	0	0	0	10185	1377	48	2	45	2	NAV3	12	78225284	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	70964352	78225284	55626611	37	10330											
TMPO	7112	genome.wustl.edu	37	12	98927404	98927404	+	Intron	SNP	A	A	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr12:98927404A>T	ENST00000556029.1	+	3	921				TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.M457L	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCCGAACTGATGTCTTCTTT	0.438																																																0			12											161	135	144					12																	98927404		2203	4300	6503	97451535	SO:0001627	intron_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1788A>T	12.37:g.98927404A>T			97451535	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.742814	0.00087	.	.	ENSG00000120802	ENST00000266732	T	0.25912	1.77	5.65	1.73	0.24493	.	0.378151	0.27927	N	0.017286	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	B	0.13145	0.007	B	0.12156	0.007	T	0.36841	-0.9731	10	0.07175	T	0.84	-2.1734	7.3004	0.26418	0.5923:0.3265:0.0812:0.0	.	457	P42166	LAP2A_HUMAN	L	457	ENSP00000266732:M457L	ENSP00000266732:M457L	M	+	1	0	TMPO	97451535	0.700000	0.27796	0.091000	0.20842	0.277000	0.26821	1.155000	0.31700	0.160000	0.19432	-1.334000	0.01262	ATG		0.438	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		T	98927404	A	T	98927404	1	4	182	0	1	0	0	0	0	0	0	0	16237	333	12	5		5	TMPO	12	98927404	Intron	SNP	A	TCGA-23-1111-01A-01W-0639-09	20702120	98927404	34924491	38	10331											
KBTBD6	89890	genome.wustl.edu	37	13	41705386	41705386	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr13:41705386C>T	ENST00000379485.1	-	1	1496	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R355H	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	421										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ACACAGCAAGCGATCTGCAAG	0.488																																																0			13											112	107	109					13																	41705386		2203	4298	6501	40603386	SO:0001583	missense	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1262G>A	13.37:g.41705386C>T	ENSP00000368799:p.Arg421His		40603386	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	11.78	1.741716	0.30865	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.66460	-0.21;-0.21	3.8	1.93	0.25924	Kelch-type beta propeller (1);	0.126768	0.47852	D	0.000209	T	0.48409	0.1498	L	0.31065	0.9	0.29823	N	0.830696	B;B	0.23377	0.067;0.084	B;B	0.14023	0.01;0.004	T	0.45056	-0.9287	10	0.56958	D	0.05	.	6.1459	0.20285	0.0:0.6919:0.1924:0.1157	.	355;421	F5GZN7;Q86V97	.;KBTB6_HUMAN	H	421;355	ENSP00000368799:R421H;ENSP00000444326:R355H	ENSP00000368799:R421H	R	-	2	0	KBTBD6	40603386	0.989000	0.36119	0.654000	0.29608	0.735000	0.41995	1.745000	0.38278	0.346000	0.23899	0.462000	0.41574	CGC		0.488	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		T	41705386	C	T	41705386	3	4	182	1	0	0	0	0	1	0	0	0	7997	768	27	1	766	1	KBTBD6	13	41705386	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09		41705386	73464492	39	10332											
NALCN	259232	genome.wustl.edu	37	13	101721133	101721133	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr13:101721133G>C	ENST00000251127.6	-	38	4325	c.4244C>G	c.(4243-4245)aCa>aGa	p.T1415R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1415					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCACAGTCTGTTGCCCAGTA	0.403																																																0			13											83	74	77					13																	101721133		2203	4300	6503	100519134	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4244C>G	13.37:g.101721133G>C	ENSP00000251127:p.Thr1415Arg		100519134	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412881	0.83340	.	.	ENSG00000102452	ENST00000251127	D	0.97831	-4.56	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.99360	1.0917	10	0.66056	D	0.02	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	1415	Q8IZF0	NALCN_HUMAN	R	1415	ENSP00000251127:T1415R	ENSP00000251127:T1415R	T	-	2	0	NALCN	100519134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.388000	0.97237	2.746000	0.94184	0.655000	0.94253	ACA		0.403	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		C	101721133	G	C	101721133	3	2	182	1	0	0	0	0	1	0	0	0	10148	1377	48	3	1000	3	NALCN	13	101721133	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	60015747	101721133	13448745	40	10333											
ZNF828	283489	genome.wustl.edu	37	13	115091623	115091623	+	Missense_Mutation	SNP	G	G	C	rs376247811		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr13:115091623G>C	ENST00000361283.1	+	3	2615	c.2306G>C	c.(2305-2307)cGt>cCt	p.R769P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	769	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R769L(1)									AAATGTCCACGTTGTAATTTT	0.363																																																1	Substitution - Missense(1)	lung(1)	13											53	56	55					13																	115091623		2203	4300	6503	114109725	SO:0001583	missense	283489			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.2306G>C	13.37:g.115091623G>C	ENSP00000354730:p.Arg769Pro		114109725	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	g	15.56	2.869484	0.51588	.	.	ENSG00000198824	ENST00000361283	T	0.42513	0.97	5.81	4.96	0.65561	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000010	T	0.51024	0.1650	L	0.50333	1.59	0.39297	D	0.964844	D	0.56035	0.974	P	0.57620	0.824	T	0.48043	-0.9069	9	.	.	.	-7.5168	12.5339	0.56131	0.1313:0.0:0.8687:0.0	.	769	Q96JM3	ZN828_HUMAN	P	769	ENSP00000354730:R769P	.	R	+	2	0	ZNF828	114109725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.691000	0.47010	2.746000	0.94184	0.655000	0.94253	CGT		0.363	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		C	115091623	G	C	115091623	3	2	182	1	0	0	0	0	1	0	0	0	18181	1145	40	3	2308	3	ZNF828	13	115091623	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	13370490	115091623	78255	41	10334											
SAMD4A	23034	genome.wustl.edu	37	14	55226944	55226944	+	Silent	SNP	G	G	A	rs577864831	byFrequency	TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr14:55226944G>A	ENST00000554335.1	+	7	1905	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	SAMD4A_ENST00000555192.1_Silent_p.P5P|SAMD4A_ENST00000392067.3_Silent_p.P414P|SAMD4A_ENST00000357634.3_Silent_p.P413P|SAMD4A_ENST00000251091.5_Silent_p.P326P			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	414					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCCTGACTCCGATCAAGGCCT	0.677													G|||	2	0.000399361	0	0	5008	,	,		14892	0.001		0.001	False		,,,				2504	0															0			14																																								54296694	SO:0001819	synonymous_variant	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1242G>A	14.37:g.55226944G>A			54296694	A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	CCDS32084.2																																																																																				0.677	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		A	55226944	G	A	55226944	2	1	182	1	0	0	0	0	0	0	0	1	13824	1045	37	1		1	SAMD4A	14	55226944	Silent	SNP	G	TCGA-23-1111-01A-01W-0639-09		55226944	52122596	42	10335											
SYNE2	23224	genome.wustl.edu	37	14	64428310	64428310	+	Silent	SNP	C	C	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr14:64428310C>T	ENST00000344113.4	+	9	1067	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SYNE2_ENST00000358025.3_Silent_p.S285S|SYNE2_ENST00000554584.1_Silent_p.S285S|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	285	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCAGTATTCCAAAGATGCCC	0.393																																																0			14											149	134	139					14																	64428310		1929	4136	6065	63498063	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.855C>T	14.37:g.64428310C>T			63498063	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64428310	C	T	64428310	2	4	182	1	0	0	0	0	0	0	0	1	15446	581	21	2		2	SYNE2	14	64428310	Silent	SNP	C	TCGA-23-1111-01A-01W-0639-09	9201366	64428310	42921230	43	10336											
ARID3B	10620	genome.wustl.edu	37	15	74883752	74883752	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr15:74883752C>A	ENST00000346246.5	+	6	1373	c.1142C>A	c.(1141-1143)tCc>tAc	p.S381Y		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	381						nucleus (GO:0005634)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.S381F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCTCGGATATCCCCAGCAACC	0.597																																																1	Substitution - Missense(1)	NS(1)	15											55	60	58					15																	74883752		2197	4296	6493	72670805	SO:0001583	missense	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1142C>A	15.37:g.74883752C>A	ENSP00000343126:p.Ser381Tyr		72670805	O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966500	0.92855	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.50548	0.74	5.42	5.42	0.78866	.	1.013720	0.07851	N	0.964575	T	0.63010	0.2475	L	0.54323	1.7	0.47621	D	0.999479	P;P;D	0.54047	0.956;0.924;0.964	P;B;P	0.53593	0.459;0.44;0.73	T	0.58668	-0.7596	10	0.52906	T	0.07	-3.6286	19.2305	0.93836	0.0:1.0:0.0:0.0	.	381;381;381	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	Y	381	ENSP00000343126:S381Y	ENSP00000343126:S381Y	S	+	2	0	ARID3B	72670805	0.187000	0.23238	0.935000	0.37517	0.988000	0.76386	4.355000	0.59424	2.549000	0.85964	0.655000	0.94253	TCC		0.597	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		A	74883752	C	A	74883752	3	1	182	1	0	0	0	0	1	0	0	0	917	855	30	3	1160	3	ARID3B	15	74883752	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09		74883752	27647640	44	10337											
HMOX2	3163	genome.wustl.edu	37	16	4557853	4557853	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr16:4557853A>C	ENST00000570646.1	+	4	949	c.344A>C	c.(343-345)tAt>tCt	p.Y115S	HMOX2_ENST00000406590.2_Missense_Mutation_p.Y115S|HMOX2_ENST00000398595.3_Missense_Mutation_p.Y115S|HMOX2_ENST00000414777.1_Missense_Mutation_p.Y115S|HMOX2_ENST00000458134.3_Missense_Mutation_p.Y115S|HMOX2_ENST00000219700.6_Missense_Mutation_p.Y115S|HMOX2_ENST00000575120.1_Missense_Mutation_p.Y86S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	115					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						GACATGGAGTATTTCTTTGGT	0.572																																																0			16											70	62	65					16																	4557853		2197	4300	6497	4497854	SO:0001583	missense	3163				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.344A>C	16.37:g.4557853A>C	ENSP00000459214:p.Tyr115Ser		4497854	A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473783	0.63737	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.62	5.62	0.85841	Haem oxygenase-like, multi-helical (2);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.63033	-0.6727	10	0.87932	D	0	-17.0367	14.6409	0.68723	1.0:0.0:0.0:0.0	.	115;115	B3KSE0;P30519	.;HMOX2_HUMAN	S	115	ENSP00000385100:Y115S;ENSP00000394103:Y115S;ENSP00000219700:Y115S;ENSP00000391637:Y115S;ENSP00000381595:Y115S	ENSP00000219700:Y115S	Y	+	2	0	HMOX2	4497854	1.000000	0.71417	0.992000	0.48379	0.813000	0.45954	4.063000	0.57499	2.142000	0.66516	0.459000	0.35465	TAT		0.572	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			C	4557853	A	C	4557853	3	2	182	1	0	0	0	0	1	0	0	0	7244	449	16	5	354	5	HMOX2	16	4557853	Missense_Mutation	SNP	A	TCGA-23-1111-01A-01W-0639-09		4557853	85796900	45	10338											
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	182	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09		7578406	73616804	46	10339											
PER1	5187	genome.wustl.edu	37	17	8052945	8052945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr17:8052945G>A	ENST00000317276.4	-	6	925	c.688C>T	c.(688-690)Cga>Tga	p.R230*	PER1_ENST00000581082.1_Intron|PER1_ENST00000354903.5_Nonsense_Mutation_p.R214*	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	230	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TAGACGATTCGGCCCGTCAGG	0.612			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0			17											60	64	63					17																	8052945		2203	4300	6503	7993670	SO:0001587	stop_gained	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.688C>T	17.37:g.8052945G>A	ENSP00000314420:p.Arg230*		7993670	B2RPA8|B4DI49|D3DTR3	Nonsense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	38	6.829168	0.97869	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	.	.	.	5.55	5.55	0.83447	.	0.193481	0.44483	D	0.000455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-14.5059	17.0051	0.86391	0.0:0.0:1.0:0.0	.	.	.	.	X	230;214	.	ENSP00000314420:R230X	R	-	1	2	PER1	7993670	0.768000	0.28519	1.000000	0.80357	0.936000	0.57629	1.751000	0.38339	2.620000	0.88729	0.563000	0.77884	CGA		0.612	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8052945	G	A	8052945	4	1	182	1	0	0	0	0	0	1	0	0	11729	1124	39	1	3256	1	PER1	17	8052945	Nonsense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09	474539	8052945	73142265	47	10340											
GLT25D1	79709	genome.wustl.edu	37	19	17670132	17670132	+	Silent	SNP	C	C	T	rs118174667	byFrequency	TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr19:17670132C>T	ENST00000252599.4	+	2	393	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	91					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TGGCTACGGACCACAACATGG	0.612													c|||	40	0.00798722	8e-04	0.0058	5008	,	,		17628	0.005		0.0139	False		,,,				2504	0.0164															0			19						C		7,4287		0,7,2140	146	108	121		273	2.6	1	19	dbSNP_132	121	71,8291		0,71,4110	no	coding-synonymous	GLT25D1	NM_024656.2		0,78,6250	TT,TC,CC		0.8491,0.163,0.6163		91/623	17670132	78,12578	2147	4181	6328	17531132	SO:0001819	synonymous_variant	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.273C>T	19.37:g.17670132C>T			17531132	Q8NC64	Silent	SNP	ENST00000252599.4	37	CCDS12363.1																																																																																				0.612	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		T	17670132	C	T	17670132	2	4	182	1	0	0	0	0	0	0	0	1	6466	506	18	2		2	GLT25D1	19	17670132	Silent	SNP	C	TCGA-23-1111-01A-01W-0639-09		17670132	41458851	48	10341											
KCNN1	3780	genome.wustl.edu	37	19	18085910	18085910	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr19:18085910T>A	ENST00000222249.9	+	4	731	c.412T>A	c.(412-414)Tac>Aac	p.Y138N	RNA5SP468_ENST00000516782.1_RNA	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	138					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	GGAGTCTCTGTACTCATTCGC	0.612																																																0			19											102	106	105					19																	18085910		2095	4210	6305	17946910	SO:0001583	missense	3780			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.412T>A	19.37:g.18085910T>A	ENSP00000476519:p.Tyr138Asn		17946910	Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37		.	.	.	.	.	.	.	.	.	.	T	18.93	3.727075	0.69074	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	3.89	2.87	0.33458	Potassium channel, calcium-activated, SK, conserved region (1);	0.311390	0.31061	N	0.008328	T	0.70631	0.3246	M	0.79475	2.455	0.33926	D	0.641502	P	0.41366	0.747	P	0.59948	0.866	T	0.76482	-0.2943	9	0.66056	D	0.02	-5.6281	6.9584	0.24583	0.0:0.1145:0.0:0.8855	.	138	Q92952	KCNN1_HUMAN	N	155;138	.	ENSP00000222249:Y155N	Y	+	1	0	KCNN1	17946910	0.999000	0.42202	0.978000	0.43139	0.963000	0.63663	5.599000	0.67592	0.576000	0.29452	0.459000	0.35465	TAC		0.612	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		A	18085910	T	A	18085910	3	1	182	1	0	0	0	0	1	0	0	0	8078	1638	57	5	418	5	KCNN1	19	18085910	Missense_Mutation	SNP	T	TCGA-23-1111-01A-01W-0639-09	415778	18085910	41043073	49	10342											
LGALS4	3960	genome.wustl.edu	37	19	39292788	39292788	+	Silent	SNP	G	G	T			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr19:39292788G>T	ENST00000307751.4	-	9	1146	c.669C>A	c.(667-669)atC>atA	p.I223I		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	223	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCTTGAAGTTGATAGCAAAGC	0.587																																																0			19											38	36	37					19																	39292788		2203	4300	6503	43984628	SO:0001819	synonymous_variant	3960				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"Lectins, galactoside-binding"	6565	protein-coding gene	gene with protein product	"galectin 4"	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.669C>A	19.37:g.39292788G>T			43984628		Silent	SNP	ENST00000307751.4	37	CCDS12521.1																																																																																				0.587	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		T	39292788	G	T	39292788	2	4	182	1	0	0	0	0	0	0	0	1	8745	1280	45	3		3	LGALS4	19	39292788	Silent	SNP	G	TCGA-23-1111-01A-01W-0639-09	21206878	39292788	19836195	50	10343											
LILRB1	10859	genome.wustl.edu	37	19	55143564	55143564	+	Silent	SNP	C	C	T	rs532278161		TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chr19:55143564C>T	ENST00000396331.1	+	6	894	c.537C>T	c.(535-537)cgC>cgT	p.R179R	AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396315.1_Silent_p.R179R|LILRB1_ENST00000427581.2_Silent_p.R215R|LILRB1_ENST00000434867.2_Silent_p.R179R|LILRB1_ENST00000396332.4_Silent_p.R179R|LILRB1_ENST00000396317.1_Silent_p.R179R|LILRB1_ENST00000324602.7_Silent_p.R179R|LILRB1_ENST00000396327.3_Silent_p.R179R|LILRB1_ENST00000448689.1_Silent_p.R179R|LILRB1_ENST00000418536.2_Silent_p.R179R|LILRB1_ENST00000396321.2_Silent_p.R179R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	179	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGTCGTCCCGCGCCATCTTCT	0.577										HNSCC(37;0.09)																																						0			19											129	126	127					19																	55143564		2203	4300	6503	59835376	SO:0001819	synonymous_variant	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.537C>T	19.37:g.55143564C>T			59835376	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																				0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			T	55143564	C	T	55143564	2	4	182	1	0	0	0	0	0	0	0	1	8790	755	27	1		1	LILRB1	19	55143564	Silent	SNP	C	TCGA-23-1111-01A-01W-0639-09	15850776	55143564	3985419	51	10344											
FAM155B	27112	genome.wustl.edu	37	X	68748887	68748887	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chrX:68748887G>A	ENST00000252338.4	+	2	955	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	305						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACCCAGCAGGAATGCCAGCG	0.597																																																0			X											58	44	49					X																	68748887		2203	4300	6503	68665612	SO:0001583	missense	27112			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.913G>A	X.37:g.68748887G>A	ENSP00000252338:p.Glu305Lys		68665612	B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294363	0.40594	.	.	ENSG00000130054	ENST00000252338	T	0.11821	2.74	5.07	2.99	0.34606	.	0.381500	0.23624	N	0.046220	T	0.06005	0.0156	N	0.14661	0.345	0.29623	N	0.846048	P	0.34587	0.458	B	0.31869	0.137	T	0.15838	-1.0423	10	0.22109	T	0.4	-5.6724	4.9746	0.14135	0.1294:0.3807:0.4899:0.0	.	305	O75949-2	.	K	305	ENSP00000252338:E305K	ENSP00000252338:E305K	E	+	1	0	FAM155B	68665612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.276000	0.43408	2.092000	0.63282	0.523000	0.50628	GAA		0.597	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		A	68748887	G	A	68748887	3	1	182	1	0	0	0	0	1	0	0	0	5466	1175	41	2	919	2	FAM155B	23	68748887	Missense_Mutation	SNP	G	TCGA-23-1111-01A-01W-0639-09		68748887	86521673	52	10345											
FAM127C	441518	genome.wustl.edu	37	X	134156168	134156168	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chrX:134156168C>G	ENST00000391440.1	-	1	391	c.322G>C	c.(322-324)Gag>Cag	p.E108Q		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	108										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					TCGTCCTCCTCCCATCCAAAG	0.662																																																0			X											40	42	41					X																	134156168		2189	4281	6470	133983834	SO:0001583	missense	441518			BC048268	CCDS43996.1	Xq26.3	2014-05-16			ENSG00000212747	ENSG00000212747			33156	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078173		Approved	MAR8B, CXX1c	uc004eyc.1	Q17RB0	OTTHUMG00000022464	ENST00000391440.1:c.322G>C	X.37:g.134156168C>G	ENSP00000375268:p.Glu108Gln		133983834		Missense_Mutation	SNP	ENST00000391440.1	37	CCDS43996.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.05|10.05	1.244965|1.244965	0.22796|0.22796	.|.	.|.	ENSG00000212747|ENSG00000212747	ENST00000391440|ENST00000538706	T|.	0.32515|.	1.45|.	2.35|2.35	2.35|2.35	0.29111|0.29111	.|.	0.776386|.	0.10313|.	U|.	0.689662|.	T|T	0.25938|0.25938	0.0632|0.0632	N|N	0.16478|0.16478	0.41|0.41	0.26094|0.26094	N|N	0.980905|0.980905	B|.	0.14805|.	0.011|.	B|.	0.14023|.	0.01|.	T|T	0.21075|0.21075	-1.0256|-1.0256	10|6	0.56958|0.87932	D|D	0.05|0	.|.	7.4608|7.4608	0.27294|0.27294	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|.	Q17RB0|.	F127C_HUMAN|.	Q|A	108|2	ENSP00000375268:E108Q|.	ENSP00000375268:E108Q|ENSP00000442860:G2A	E|G	-|-	1|2	0|0	FAM127C|FAM127C	133983834|133983834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.834000|1.834000	0.39171|0.39171	1.455000|1.455000	0.47813|0.47813	0.436000|0.436000	0.28706|0.28706	GAG|GGA		0.662	FAM127C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058389.2	NM_001078173		G	134156168	C	G	134156168	3	3	182	1	0	0	0	0	1	0	0	0	5433	864	30	3	23	3	FAM127C	23	134156168	Missense_Mutation	SNP	C	TCGA-23-1111-01A-01W-0639-09	65407281	134156168	21114392	53	10346											
GABRE	2564	genome.wustl.edu	37	X	151131085	151131085	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1111-01A-01W-0639-09	TCGA-23-1111-10C-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e42e28-39a8-4439-9c57-b11660d46115	6af014f9-1996-46ba-9505-e63cb29302ff	g.chrX:151131085T>A	ENST00000370328.3	-	4	426	c.373A>T	c.(373-375)Acc>Tcc	p.T125S	GABRE_ENST00000370325.1_Missense_Mutation_p.T125S|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	125					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGTACCAGGTCTGGGAGAAG	0.458																																																0			X											168	133	145					X																	151131085		2203	4300	6503	150881741	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.373A>T	X.37:g.151131085T>A	ENSP00000359353:p.Thr125Ser		150881741	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.318996	0.23994	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79247	-1.25;-1.25	5.6	4.44	0.53790	Neurotransmitter-gated ion-channel ligand-binding (3);	0.396600	0.20850	N	0.084552	T	0.66839	0.2830	N	0.25332	0.735	0.80722	D	1	B	0.32283	0.362	B	0.38225	0.268	T	0.58544	-0.7618	10	0.26408	T	0.33	.	8.7093	0.34374	0.0:0.0908:0.0:0.9092	.	125	P78334	GBRE_HUMAN	S	125	ENSP00000359353:T125S;ENSP00000359350:T125S	ENSP00000359350:T125S	T	-	1	0	GABRE	150881741	1.000000	0.71417	0.964000	0.40570	0.339000	0.28857	4.258000	0.58822	0.762000	0.33152	0.486000	0.48141	ACC		0.458	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		A	151131085	T	A	151131085	3	1	182	1	0	0	0	0	1	0	0	0	6170	1667	58	5	1171	5	GABRE	23	151131085	Missense_Mutation	SNP	T	TCGA-23-1111-01A-01W-0639-09	16974917	151131085	4139475	54	10347											
CTNNBIP1	56998	genome.wustl.edu	37	1	9910818	9910818	+	Silent	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:9910818C>T	ENST00000377263.1	-	6	515	c.204G>A	c.(202-204)gtG>gtA	p.V68V	RP11-84A14.5_ENST00000454104.1_RNA|CTNNBIP1_ENST00000377258.1_Silent_p.V68V|CTNNBIP1_ENST00000400904.3_Silent_p.V68V|CTNNBIP1_ENST00000537447.1_Silent_p.V68V|CTNNBIP1_ENST00000377256.1_Silent_p.V68V	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	68					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AAAACGCCATCACCACGTCCT	0.587																																																0			1											131	118	122					1																	9910818		2203	4300	6503	9833405	SO:0001819	synonymous_variant	56998			AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"beta-catenin-interacting protein ICAT", "inhibitor of beta-catenin and Tcf-4"	607758	"catenin, beta-interacting protein 1"			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.204G>A	1.37:g.9910818C>T			9833405	Q5T4V2	Silent	SNP	ENST00000377263.1	37	CCDS106.1																																																																																				0.587	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005012.1	NM_020248		T	9910818	C	T	9910818	2	4	183	1	0	0	0	0	0	0	0	1	4017	813	29	2		2	CTNNBIP1	1	9910818	Silent	SNP	C	TCGA-23-1114-01B-01W-0633-09		9910818	239339803	1	10348											
C1orf187	374946	genome.wustl.edu	37	1	11772023	11772023	+	Splice_Site	SNP	G	G	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:11772023G>T	ENST00000294485.5	+	4	892		c.e4+1			NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		AAGAAGAAAGGTATGCCCACC	0.567																																																0			1											85	56	66					1																	11772023		2203	4300	6503	11694610	SO:0001630	splice_region_variant	374946			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"dorsal repulsive axon guidance protein", "neural tissue-specific cysteine-rich protein"	612682	"chromosome 1 open reading frame 187"	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.757+1G>T	1.37:g.11772023G>T			11694610		Splice_Site	SNP	ENST00000294485.5	37	CCDS135.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926793	0.52759	.	.	ENSG00000162490	ENST00000294485	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8233	0.92106	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf187	11694610	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	8.780000	0.91799	2.687000	0.91594	0.655000	0.94253	.		0.567	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545	Intron	T	11772023	G	T	11772023	5	4	183	1	0	0	0	0	0	0	1	0	2021	1275	44	3	768	3	C1orf187	1	11772023	Splice_Site	SNP	G	TCGA-23-1114-01B-01W-0633-09	1861205	11772023	237478598	2	10349											
MFN2	9927	genome.wustl.edu	37	1	12067114	12067114	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:12067114G>T	ENST00000235329.5	+	17	2199	c.1877G>T	c.(1876-1878)tGg>tTg	p.W626L	MFN2_ENST00000444836.1_Missense_Mutation_p.W626L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	626					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTGCAGGTGTGGAAGGCAGTG	0.632																																																0			1											125	119	121					1																	12067114		2203	4300	6503	11989701	SO:0001583	missense	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1877G>T	1.37:g.12067114G>T	ENSP00000235329:p.Trp626Leu		11989701	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389985	0.42410	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.95980	-3.87;-3.87	4.6	4.6	0.57074	Fzo/mitofusin HR2 domain (1);	0.135470	0.53938	D	0.000052	D	0.95481	0.8532	L	0.49778	1.585	0.80722	D	1	P	0.52316	0.952	P	0.60117	0.869	D	0.93148	0.6547	10	0.06494	T	0.89	-12.5313	16.6266	0.84972	0.0:0.0:1.0:0.0	.	626	O95140	MFN2_HUMAN	L	626;626;324	ENSP00000416338:W626L;ENSP00000235329:W626L	ENSP00000235329:W626L	W	+	2	0	MFN2	11989701	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	7.434000	0.80377	2.381000	0.81170	0.655000	0.94253	TGG		0.632	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		T	12067114	G	T	12067114	3	4	183	1	0	0	0	0	1	0	0	0	9524	1357	47	3	1935	3	MFN2	1	12067114	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	295091	12067114	237183507	3	10350											
CNN3	1266	genome.wustl.edu	37	1	95363310	95363310	+	Silent	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:95363310G>A	ENST00000370206.4	-	7	1361	c.978C>T	c.(976-978)ggC>ggT	p.G326G	CNN3_ENST00000394202.4_Silent_p.G280G|CNN3_ENST00000545882.1_Silent_p.G285G|CNN3_ENST00000538964.1_Silent_p.G326G|CNN3_ENST00000487539.1_5'Flank	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	326	Asp/Glu-rich (acidic).				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		AATAATCAATGCCTTGGTCGC	0.408																																																0			1											174	158	163					1																	95363310		2203	4300	6503	95135898	SO:0001819	synonymous_variant	1266			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.978C>T	1.37:g.95363310G>A			95135898	B4DFK6|B4DP09|F8WA86|Q6FHA7	Silent	SNP	ENST00000370206.4	37	CCDS30775.1																																																																																				0.408	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		A	95363310	G	A	95363310	2	1	183	1	0	0	0	0	0	0	0	1	3611	1306	46	2		2	CNN3	1	95363310	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09	83296196	95363310	153887311	4	10351											
LCE2B	26239	genome.wustl.edu	37	1	152659606	152659606	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:152659606C>A	ENST00000368780.3	+	2	341	c.287C>A	c.(286-288)cCt>cAt	p.P96H	LCE2B_ENST00000417924.2_Missense_Mutation_p.P96H	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	96	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGTGAACCTTCTGGGGGC	0.622																																																0			1											34	43	40					1																	152659606		2190	4278	6468	150926230	SO:0001583	missense	26239			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.287C>A	1.37:g.152659606C>A	ENSP00000357769:p.Pro96His		150926230	Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	3.877	-0.026644	0.07589	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03635	3.86;3.86	2.46	-0.0736	0.13734	.	.	.	.	.	T	0.01124	0.0037	L	0.38838	1.175	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.46119	-0.9214	9	0.87932	D	0	.	6.1011	0.20047	0.5693:0.4307:0.0:0.0	.	96	O14633	LCE2B_HUMAN	H	96	ENSP00000414043:P96H;ENSP00000357769:P96H	ENSP00000357769:P96H	P	+	2	0	LCE2B	150926230	0.000000	0.05858	0.022000	0.16811	0.064000	0.16182	0.164000	0.16542	0.282000	0.22254	0.313000	0.20887	CCT		0.622	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		A	152659606	C	A	152659606	3	1	183	1	0	0	0	0	1	0	0	0	8666	681	24	3	289	3	LCE2B	1	152659606	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	57296296	152659606	96591015	5	10352											
NUF2	83540	genome.wustl.edu	37	1	163297340	163297349	+	Frame_Shift_Del	DEL	ACATTTTTAC	ACATTTTTAC	-			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	ACATTTTTAC	ACATTTTTAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:163297340_163297349delACATTTTTAC	ENST00000271452.3	+	3	465_474	c.186_195delACATTTTTAC	c.(184-195)gaacatttttacfs	p.EHFY62fs	NUF2_ENST00000367900.3_Frame_Shift_Del_p.EHFY62fs|NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Frame_Shift_Del_p.EHFY62fs	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	62	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTCGACTGGAACATTTTTACATGGTGAGTT	0.357																																																0			1																																								161563973	SO:0001589	frameshift_variant	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.186_195delACATTTTTAC	1.37:g.163297340_163297349delACATTTTTAC	ENSP00000271452:p.Glu62fs		161563964	Q8WU69|Q96HJ4|Q96Q78	Frame_Shift_Del	DEL	ENST00000271452.3	37	CCDS1245.1																																																																																				0.357	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		-	163297349	ACATTTTTAC	-	163297340	7	5	183	1	0	1	0	1	0	0	0	0	10747	40	2	0	192	0	NUF2	1	163297340	Frame_Shift_Del	DEL	ACATTTTTAC	TCGA-23-1114-01B-01W-0633-09	10637734	163297340	85953281	6	10353											
MYOC	4653	genome.wustl.edu	37	1	171605173	171605173	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:171605173G>C	ENST00000037502.6	-	3	1478	c.1407C>G	c.(1405-1407)aaC>aaG	p.N469K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	469	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTTATAGCGGTTCTTGAATG	0.488																																																0			1											211	185	194					1																	171605173		2203	4300	6503	169871796	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1407C>G	1.37:g.171605173G>C	ENSP00000037502:p.Asn469Lys		169871796	B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864257	0.71949	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	D	0.88509	-2.39	5.08	4.15	0.48705	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	L	0.54965	1.715	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90227	0.4276	10	0.87932	D	0	.	8.3567	0.32335	0.1847:0.0:0.8153:0.0	.	411;469	B4DV44;Q99972	.;MYOC_HUMAN	K	469;422;402	ENSP00000037502:N469K	ENSP00000037502:N469K	N	-	3	2	MYOC	169871796	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	5.709000	0.68384	1.230000	0.43646	0.484000	0.47621	AAC		0.488	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		C	171605173	G	C	171605173	3	2	183	1	0	0	0	0	1	0	0	0	10086	1252	44	3	111	3	MYOC	1	171605173	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	8307833	171605173	77645448	7	10354											
F13B	2165	genome.wustl.edu	37	1	197009835	197009835	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:197009835T>C	ENST00000367412.1	-	11	1812	c.1769A>G	c.(1768-1770)gAa>gGa	p.E590G	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	590	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATTATTCTTTTCCATTTCAGT	0.303																																																0			1											45	42	43					1																	197009835		2201	4294	6495	195276458	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1769A>G	1.37:g.197009835T>C	ENSP00000356382:p.Glu590Gly		195276458	A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960564	0.53400	.	.	ENSG00000143278	ENST00000367412	D	0.84070	-1.8	5.59	5.59	0.84812	Complement control module (1);	0.239048	0.21752	N	0.069645	T	0.81322	0.4798	M	0.81497	2.545	0.36654	D	0.877574	P	0.44627	0.839	B	0.36134	0.218	D	0.85670	0.1294	10	0.45353	T	0.12	.	11.5362	0.50639	0.0:0.0:0.1495:0.8505	.	590	P05160	F13B_HUMAN	G	590	ENSP00000356382:E590G	ENSP00000356382:E590G	E	-	2	0	F13B	195276458	0.962000	0.33011	0.942000	0.38095	0.911000	0.54048	1.678000	0.37586	2.246000	0.74042	0.533000	0.62120	GAA		0.303	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		C	197009835	T	C	197009835	3	2	183	1	0	0	0	0	1	0	0	0	5341	1783	62	4	224	4	F13B	1	197009835	Missense_Mutation	SNP	T	TCGA-23-1114-01B-01W-0633-09	25404662	197009835	52240786	8	10355											
CACNA1S	779	genome.wustl.edu	37	1	201035010	201035010	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:201035010delG	ENST00000362061.3	-	22	3035	c.2809delC	c.(2809-2811)ctcfs	p.L938fs	CACNA1S_ENST00000367338.3_Frame_Shift_Del_p.L938fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	938					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AACTGTAGGAGGGTAGTGACC	0.647																																																0			1											102	82	89					1																	201035010		2203	4300	6503	199301633	SO:0001589	frameshift_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2809delC	1.37:g.201035010delG	ENSP00000355192:p.Leu938fs		199301633	A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Del	DEL	ENST00000362061.3	37	CCDS1407.1																																																																																				0.647	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		-	201035010	G	-	201035010	7	5	183	1	0	1	0	1	0	0	0	0	2547	1000	35	0	2904	0	CACNA1S	1	201035010	Frame_Shift_Del	DEL	G	TCGA-23-1114-01B-01W-0633-09	4025175	201035010	48215611	9	10356											
REN	5972	genome.wustl.edu	37	1	204129729	204129729	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:204129729T>C	ENST00000272190.8	-	4	479	c.451A>G	c.(451-453)Aca>Gca	p.T151A	REN_ENST00000367195.2_Missense_Mutation_p.T151A	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	151					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	ACTGTCCCTGTTGAATAGCGG	0.572																																																0			1											179	150	160					1																	204129729		2203	4300	6503	202396352	SO:0001583	missense	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.451A>G	1.37:g.204129729T>C	ENSP00000272190:p.Thr151Ala		202396352	Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	T	7.022	0.558874	0.13436	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.60299	0.2;0.2	4.86	2.45	0.29901	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.183072	0.49916	D	0.000131	T	0.49287	0.1548	M	0.62209	1.925	0.33074	D	0.535735	B	0.15141	0.012	B	0.18871	0.023	T	0.53187	-0.8474	10	0.72032	D	0.01	.	4.5514	0.12114	0.4419:0.0:0.0862:0.4719	.	151	P00797	RENI_HUMAN	A	151;70;151	ENSP00000356163:T151A;ENSP00000272190:T151A	ENSP00000272190:T151A	T	-	1	0	REN	202396352	0.866000	0.29940	0.889000	0.34880	0.001000	0.01503	1.760000	0.38430	0.194000	0.20326	-1.407000	0.01130	ACA		0.572	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		C	204129729	T	C	204129729	3	2	183	1	0	0	0	0	1	0	0	0	13227	1725	60	4	797	4	REN	1	204129729	Missense_Mutation	SNP	T	TCGA-23-1114-01B-01W-0633-09	3094719	204129729	45120892	10	10357											
RYR2	6262	genome.wustl.edu	37	1	237551468	237551468	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:237551468G>T	ENST00000366574.2	+	10	1075	c.758G>T	c.(757-759)gGt>gTt	p.G253V	RYR2_ENST00000542537.1_Missense_Mutation_p.G237V|RYR2_ENST00000360064.6_Missense_Mutation_p.G251V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	253	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGAACATGGTGAAGAGCAG	0.443																																																0			1											100	99	99					1																	237551468		2053	4207	6260	235618091	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.758G>T	1.37:g.237551468G>T	ENSP00000355533:p.Gly253Val		235618091	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889292	0.52014	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.86694	-2.16;-2.16;-2.16	5.34	5.34	0.76211	MIR motif (2);MIR (2);	0.000000	0.64402	D	0.000010	D	0.86573	0.5965	M	0.63428	1.95	0.80722	D	1	P	0.49253	0.921	B	0.43950	0.437	D	0.85843	0.1399	10	0.33141	T	0.24	.	15.9497	0.79823	0.0:0.0:1.0:0.0	.	253	Q92736	RYR2_HUMAN	V	253;251;237	ENSP00000355533:G253V;ENSP00000353174:G251V;ENSP00000443798:G237V	ENSP00000353174:G251V	G	+	2	0	RYR2	235618091	1.000000	0.71417	0.969000	0.41365	0.992000	0.81027	5.470000	0.66756	2.502000	0.84385	0.655000	0.94253	GGT		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237551468	G	T	237551468	3	4	183	1	0	0	0	0	1	0	0	0	13772	1261	44	3	796	3	RYR2	1	237551468	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	33421739	237551468	11699153	11	10358											
OR2T11	127077	genome.wustl.edu	37	1	248789970	248789970	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr1:248789970A>T	ENST00000330803.2	-	1	521	c.460T>A	c.(460-462)Ttt>Att	p.F154I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGAGCAGAAAGCCATCGAGG	0.532																																																0			1											49	57	55					1																	248789970		2049	4233	6282	246856593	SO:0001583	missense	127077			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.460T>A	1.37:g.248789970A>T	ENSP00000328934:p.Phe154Ile		246856593	Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	8.491	0.862011	0.17178	.	.	ENSG00000183130	ENST00000330803	T	0.00042	8.84	4.38	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000411	T	0.00178	0.0005	N	0.21508	0.67	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.55623	-0.8112	10	0.21014	T	0.42	.	5.7549	0.18168	0.766:0.0:0.0862:0.1478	.	154	Q8NH01	O2T11_HUMAN	I	154	ENSP00000328934:F154I	ENSP00000328934:F154I	F	-	1	0	OR2T11	246856593	0.000000	0.05858	0.610000	0.28997	0.127000	0.20565	-1.019000	0.03622	0.700000	0.31782	0.533000	0.62120	TTT		0.532	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		T	248789970	A	T	248789970	3	4	183	1	0	0	0	0	1	0	0	0	11018	72	3	5	494	5	OR2T11	1	248789970	Missense_Mutation	SNP	A	TCGA-23-1114-01B-01W-0633-09	11238502	248789970	460651	12	10359											
B3GNT2	10678	genome.wustl.edu	37	2	62449713	62449713	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr2:62449713delC	ENST00000301998.4	+	2	610	c.358delC	c.(358-360)ctgfs	p.L121fs	B3GNT2_ENST00000405767.1_Frame_Shift_Del_p.L121fs	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	121					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TAAAGACTTTCTGCTGTATTT	0.458																																																0			2											153	173	166					2																	62449713		2203	4300	6503	62303217	SO:0001589	frameshift_variant	10678			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.358delC	2.37:g.62449713delC	ENSP00000305595:p.Leu121fs		62303217	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Frame_Shift_Del	DEL	ENST00000301998.4	37	CCDS1870.1																																																																																				0.458	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		-	62449713	C	-	62449713	7	5	183	1	0	1	0	1	0	0	0	0	1257	912	32	0	360	0	B3GNT2	2	62449713	Frame_Shift_Del	DEL	C	TCGA-23-1114-01B-01W-0633-09		62449713	180749660	13	10360											
ALMS1	7840	genome.wustl.edu	37	2	73676187	73676187	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr2:73676187G>A	ENST00000264448.6	+	8	2641	c.2530G>A	c.(2530-2532)Gac>Aac	p.D844N	ALMS1_ENST00000377715.1_Missense_Mutation_p.D844N|ALMS1_ENST00000409009.1_Missense_Mutation_p.D802N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	844	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGACCAGCTGACGGAAAGAC	0.507																																																0			2											76	78	78					2																	73676187		1894	4112	6006	73529695	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2530G>A	2.37:g.73676187G>A	ENSP00000264448:p.Asp844Asn		73529695	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448901	0.43531	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19250	3.04;3.04;2.16	4.07	4.07	0.47477	.	1.368040	0.05334	N	0.528830	T	0.23370	0.0565	L	0.43152	1.355	0.09310	N	0.999995	B;B;B	0.28880	0.226;0.136;0.136	B;B;B	0.29524	0.103;0.038;0.042	T	0.13072	-1.0523	10	0.41790	T	0.15	.	12.0643	0.53580	0.0:0.0:1.0:0.0	.	844;802;844	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	N	802;844;844	ENSP00000386627:D802N;ENSP00000264448:D844N;ENSP00000366944:D844N	ENSP00000264448:D844N	D	+	1	0	ALMS1	73529695	0.009000	0.17119	0.251000	0.24312	0.032000	0.12392	1.001000	0.29783	2.559000	0.86315	0.655000	0.94253	GAC		0.507	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73676187	G	A	73676187	3	1	183	1	0	0	0	0	1	0	0	0	535	1290	45	2	2560	2	ALMS1	2	73676187	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	11226474	73676187	169523186	14	10361											
LRP1B	53353	genome.wustl.edu	37	2	141215125	141215125	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr2:141215125G>C	ENST00000389484.3	-	61	10692	c.9721C>G	c.(9721-9723)Cat>Gat	p.H3241D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3241					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGTTTTATGGGCACGGCTG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0			2											231	202	212					2																	141215125		2203	4300	6503	140931595	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9721C>G	2.37:g.141215125G>C	ENSP00000374135:p.His3241Asp		140931595	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309883	0.60414	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87103	-2.21	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.89259	0.6664	N	0.25890	0.77	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.86880	0.2041	10	0.23891	T	0.37	.	19.3152	0.94208	0.0:0.0:1.0:0.0	.	3241	Q9NZR2	LRP1B_HUMAN	D	3241;3179	ENSP00000374135:H3241D	ENSP00000374135:H3241D	H	-	1	0	LRP1B	140931595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.550000	0.86006	0.655000	0.94253	CAT		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141215125	G	C	141215125	3	2	183	1	0	0	0	0	1	0	0	0	8955	1348	47	3	4202	3	LRP1B	2	141215125	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	67538938	141215125	101984248	15	10362											
MBD5	55777	genome.wustl.edu	37	2	149247139	149247139	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr2:149247139C>T	ENST00000407073.1	+	12	4236	c.3239C>T	c.(3238-3240)cCa>cTa	p.P1080L	MBD5_ENST00000404807.1_Missense_Mutation_p.P1313L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1080					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGGGTGGCCCAGGTGATGCT	0.498																																																0			2											151	136	141					2																	149247139		2203	4300	6503	148963609	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3239C>T	2.37:g.149247139C>T	ENSP00000386049:p.Pro1080Leu		148963609	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406956	0.25378	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.17854	2.25;2.25	5.94	0.457	0.16661	.	0.430369	0.22190	N	0.063381	T	0.09818	0.0241	N	0.08118	0	0.37286	D	0.908032	B;B	0.19817	0.039;0.039	B;B	0.22753	0.023;0.041	T	0.16660	-1.0395	10	0.62326	D	0.03	0.8125	14.6144	0.68539	0.5003:0.4997:0.0:0.0	.	1313;1080	E9PHH0;Q9P267	.;MBD5_HUMAN	L	1080;1313	ENSP00000386049:P1080L;ENSP00000384672:P1313L	ENSP00000384672:P1313L	P	+	2	0	MBD5	148963609	0.997000	0.39634	0.977000	0.42913	0.994000	0.84299	1.181000	0.32017	0.122000	0.18314	-0.474000	0.04947	CCA		0.498	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			T	149247139	C	T	149247139	3	4	183	1	0	0	0	0	1	0	0	0	9347	594	21	2	3265	2	MBD5	2	149247139	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	8032014	149247139	93952234	16	10363											
RBM45	129831	genome.wustl.edu	37	2	178977301	178977301	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr2:178977301G>C	ENST00000286070.5	+	1	120	c.28G>C	c.(28-30)Ggc>Cgc	p.G10R		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	10					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CTCTGCGAGCGGCGGGGGCTT	0.637											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			2											23	28	26					2																	178977301		2173	4258	6431	178685547	SO:0001583	missense	129831			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"RNA binding motif (RRM) containing"	24468	protein-coding gene	gene with protein product	"developmentally regulated RNA binding protein 1"	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.28G>C	2.37:g.178977301G>C	ENSP00000286070:p.Gly10Arg	1950	178685547	Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911641	0.33721	.	.	ENSG00000155636	ENST00000286070	T	0.05447	3.44	5.44	4.56	0.56223	.	0.534620	0.20024	N	0.100842	T	0.04227	0.0117	N	0.19112	0.55	0.33718	D	0.616613	P	0.36789	0.57	B	0.34138	0.176	T	0.37888	-0.9686	10	0.39692	T	0.17	-2.215	7.0484	0.25059	0.2691:0.0:0.7309:0.0	.	10	Q8IUH3-3	.	R	10	ENSP00000286070:G10R	ENSP00000286070:G10R	G	+	1	0	RBM45	178685547	1.000000	0.71417	0.990000	0.47175	0.366000	0.29705	2.473000	0.45145	1.265000	0.44215	0.563000	0.77884	GGC		0.637	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		C	178977301	G	C	178977301	3	2	183	1	0	0	0	0	1	0	0	0	13142	1116	39	3	30	3	RBM45	2	178977301	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	29730162	178977301	64222072	17	10364											
CALCRL	10203	genome.wustl.edu	37	2	188210990	188210990	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr2:188210990C>G	ENST00000409998.1	-	16	2088	c.1307G>C	c.(1306-1308)tGt>tCt	p.C436S	CALCRL_ENST00000410068.1_Missense_Mutation_p.C436S|CALCRL_ENST00000392370.3_Missense_Mutation_p.C436S|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	436					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTCACTAGGACAGTCATGACT	0.353																																																0			2											123	114	117					2																	188210990		2203	4299	6502	187919235	SO:0001583	missense	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1307G>C	2.37:g.188210990C>G	ENSP00000386972:p.Cys436Ser		187919235	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	C	6.419	0.445373	0.12164	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.39787	1.06;1.06;1.06	5.7	-6.48	0.01896	.	0.628423	0.15424	N	0.263085	T	0.16300	0.0392	N	0.17312	0.475	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30736	-0.9968	10	0.10377	T	0.69	.	5.8489	0.18681	0.2747:0.3173:0.0:0.4079	.	436	Q16602	CALRL_HUMAN	S	436	ENSP00000376177:C436S;ENSP00000386972:C436S;ENSP00000387190:C436S	ENSP00000376177:C436S	C	-	2	0	CALCRL	187919235	0.001000	0.12720	0.001000	0.08648	0.911000	0.54048	-0.324000	0.07986	-1.122000	0.02945	-0.899000	0.02877	TGT		0.353	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		G	188210990	C	G	188210990	3	3	183	1	0	0	0	0	1	0	0	0	2580	478	17	3	82	3	CALCRL	2	188210990	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	9233689	188210990	54988383	18	10365											
PMS1	5378	genome.wustl.edu	37	2	190728861	190728861	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr2:190728861A>G	ENST00000441310.2	+	10	2482	c.2249A>G	c.(2248-2250)tAt>tGt	p.Y750C	PMS1_ENST00000432292.3_Missense_Mutation_p.Y574C|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000418224.3_Missense_Mutation_p.Y574C|PMS1_ENST00000409823.3_Missense_Mutation_p.Y711C	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	750					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTAAATCCATATAGAGTAGAA	0.383			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0			2											106	118	114					2																	190728861		2203	4300	6503	190437106	SO:0001583	missense	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2249A>G	2.37:g.190728861A>G	ENSP00000406490:p.Tyr750Cys		190437106	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.544692	0.65198	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.87809	1.79;1.79;1.79;1.79;-2.3;1.79	5.45	5.45	0.79879	.	0.271361	0.43579	D	0.000552	D	0.92502	0.7619	M	0.71581	2.175	0.48452	D	0.999652	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68353	0.957;0.953;0.957	D	0.93315	0.6688	10	0.87932	D	0	-7.57	15.7434	0.77920	1.0:0.0:0.0:0.0	.	750;711;750	Q4VAL4;Q5FBZ3;P54277	.;.;PMS1_HUMAN	C	750;574;711;574;689;138	ENSP00000406490:Y750C;ENSP00000404492:Y574C;ENSP00000387125:Y711C;ENSP00000398378:Y574C;ENSP00000389938:Y689C;ENSP00000396232:Y138C	ENSP00000387125:Y711C	Y	+	2	0	PMS1	190437106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.018000	0.70811	2.301000	0.77427	0.524000	0.50904	TAT		0.383	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			G	190728861	A	G	190728861	3	3	183	1	0	0	0	0	1	0	0	0	12142	449	16	4	2283	4	PMS1	2	190728861	Missense_Mutation	SNP	A	TCGA-23-1114-01B-01W-0633-09	2517871	190728861	52470512	19	10366											
GPR1	2825	genome.wustl.edu	37	2	207041082	207041082	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr2:207041082C>T	ENST00000407325.2	-	3	1252	c.890G>A	c.(889-891)aGt>aAt	p.S297N	GPR1_ENST00000437420.1_Missense_Mutation_p.S297N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	297					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GTTCAAGCAACTATTGAGGAA	0.478																																																0			2											115	109	111					2																	207041082		2203	4300	6503	206749327	SO:0001583	missense	2825				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.890G>A	2.37:g.207041082C>T	ENSP00000384345:p.Ser297Asn		206749327	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871722	0.91587	.	.	ENSG00000183671	ENST00000407325;ENST00000437420	T;T	0.79554	-1.28;-1.28	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92077	0.7489	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91430	0.5165	10	0.38643	T	0.18	.	19.8379	0.96666	0.0:1.0:0.0:0.0	.	297	P46091	GPR1_HUMAN	N	297	ENSP00000384345:S297N;ENSP00000397535:S297N	ENSP00000384345:S297N	S	-	2	0	GPR1	206749327	1.000000	0.71417	0.971000	0.41717	0.955000	0.61496	7.772000	0.85439	2.696000	0.92011	0.655000	0.94253	AGT		0.478	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		T	207041082	C	T	207041082	3	4	183	1	0	0	0	0	1	0	0	0	6621	565	20	2	181	2	GPR1	2	207041082	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	16312221	207041082	36158291	20	10367											
WDR6	11180	genome.wustl.edu	37	3	49052721	49052721	+	Nonstop_Mutation	SNP	A	A	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr3:49052721A>C	ENST00000608424.1	+	6	3405	c.3366A>C	c.(3364-3366)tgA>tgC	p.*1122C	WDR6_ENST00000448293.1_Nonstop_Mutation_p.*1071C|WDR6_ENST00000415265.2_Nonstop_Mutation_p.*570C|WDR6_ENST00000395474.3_Nonstop_Mutation_p.*1152C|DALRD3_ENST00000496568.1_5'Flank			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	0					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGTATGACTGAGGTATCCTGC	0.612																																																0			3											60	55	57					3																	49052721		2203	4300	6503	49027725	SO:0001578	stop_lost	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.3366A>C	3.37:g.49052721A>C	ENSP00000477389:p.*1122Cysext*86		49027725	B4DHK2|Q3MIT1|Q9UF63	Nonstop_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	A	12.87	2.066549	0.36470	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9527	0.58409	1.0:0.0:0.0:0.0	.	.	.	.	C	1152;570;1071	.	.	X	+	3	0	WDR6	49027725	0.992000	0.36948	0.824000	0.32777	0.334000	0.28698	1.802000	0.38853	2.110000	0.64415	0.459000	0.35465	TGA		0.612	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			C	49052721	A	C	49052721	4	2	183	1	0	0	0	0	0	0	0	0	17310	317	11	5	3478	5	WDR6	3	49052721	Nonstop_Mutation	SNP	A	TCGA-23-1114-01B-01W-0633-09		49052721	148969709	21	10368											
SIDT1	54847	genome.wustl.edu	37	3	113320464	113320464	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr3:113320464A>G	ENST00000264852.4	+	11	1801	c.1075A>G	c.(1075-1077)Att>Gtt	p.I359V	SIDT1_ENST00000393830.3_Missense_Mutation_p.I359V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	359					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ATCTCATCCCATTGCTGCCAG	0.408																																																0			3											120	107	111					3																	113320464		2203	4300	6503	114803154	SO:0001583	missense	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1075A>G	3.37:g.113320464A>G	ENSP00000264852:p.Ile359Val		114803154	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	A	8.433	0.849052	0.17034	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23754	1.89;1.89	6.17	5.01	0.66863	.	0.084780	0.50627	D	0.000105	T	0.22820	0.0551	L	0.50333	1.59	0.42425	D	0.992652	B;B	0.28178	0.099;0.202	B;B	0.33846	0.137;0.171	T	0.02917	-1.1094	10	0.02654	T	1	-16.3141	12.6751	0.56889	0.935:0.0:0.065:0.0	.	359;359	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	V	359	ENSP00000264852:I359V;ENSP00000377416:I359V	ENSP00000264852:I359V	I	+	1	0	SIDT1	114803154	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.451000	0.60047	2.371000	0.80710	0.533000	0.62120	ATT		0.408	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		G	113320464	A	G	113320464	3	3	183	1	0	0	0	0	1	0	0	0	14305	217	8	4	1117	4	SIDT1	3	113320464	Missense_Mutation	SNP	A	TCGA-23-1114-01B-01W-0633-09	64267743	113320464	84701966	22	10369											
ROPN1	54763	genome.wustl.edu	37	3	123694318	123694318	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr3:123694318C>G	ENST00000184183.4	-	5	644	c.304G>C	c.(304-306)Gat>Cat	p.D102H	ROPN1_ENST00000405845.3_Missense_Mutation_p.D102H	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	102						cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TTAAACAGATCTGTTGGGAGA	0.522																																																0			3											6	6	6					3																	123694318		1934	4044	5978	125177008	SO:0001583	missense	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"cancer/testis antigen 91"	611757	"ropporin, rhophilin associated protein 1"			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.304G>C	3.37:g.123694318C>G	ENSP00000184183:p.Asp102His		125177008	D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231756	0.39399	.	.	ENSG00000065371	ENST00000184183;ENST00000405845;ENST00000467907;ENST00000460743;ENST00000495336	T;T;T;T	0.32753	1.97;1.97;1.97;1.44	4.61	3.73	0.42828	.	0.060284	0.64402	D	0.000011	T	0.25754	0.0627	L	0.38175	1.15	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.08973	-1.0696	10	0.72032	D	0.01	-24.1068	12.5989	0.56487	0.0:0.8328:0.1672:0.0	.	102	Q9HAT0	ROP1A_HUMAN	H	102	ENSP00000184183:D102H;ENSP00000385919:D102H;ENSP00000417067:D102H;ENSP00000420310:D102H	ENSP00000184183:D102H	D	-	1	0	ROPN1	125177008	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	4.462000	0.60121	1.342000	0.45619	-0.168000	0.13345	GAT		0.522	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		G	123694318	C	G	123694318	3	3	183	1	0	0	0	0	1	0	0	0	13526	913	32	3	346	3	ROPN1	3	123694318	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	10373854	123694318	74328112	23	10370											
MUC13	56667	genome.wustl.edu	37	3	124630974	124630978	+	Frame_Shift_Del	DEL	TAGCC	TAGCC	-	rs368618875		TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	TAGCC	TAGCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr3:124630974_124630978delTAGCC	ENST00000311075.3	-	9	1260_1264	c.1222_1226delGGCTA	c.(1222-1227)ggctacfs	p.GY408fs		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	409					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GAGTCCACTGTAGCCAAATGCACAC	0.429																																																0			3																																								126113668	SO:0001589	frameshift_variant	56667			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1222_1226delGGCTA	3.37:g.124630974_124630978delTAGCC	ENSP00000312235:p.Gly408fs		126113664	Q6UWD9|Q9NXT5	Frame_Shift_Del	DEL	ENST00000311075.3	37																																																																																					0.429	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		-	124630978	TAGCC	-	124630974	7	5	183	1	0	1	0	1	0	0	0	0	9971	1638	57	0	321	0	MUC13	3	124630974	Frame_Shift_Del	DEL	TAGCC	TCGA-23-1114-01B-01W-0633-09	936656	124630974	73391456	24	10371											
COPS4	51138	genome.wustl.edu	37	4	83971131	83971131	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr4:83971131G>A	ENST00000264389.2	+	4	539	c.404G>A	c.(403-405)gGa>gAa	p.G135E	COPS4_ENST00000503682.1_Missense_Mutation_p.G135E|COPS4_ENST00000511653.1_Missense_Mutation_p.G135E|COPS4_ENST00000509093.1_Missense_Mutation_p.G135E	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	135					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TTGGAAACAGGACAAAAGTAT	0.343																																																0			4											111	126	121					4																	83971131		2203	4299	6502	84190155	SO:0001583	missense	51138			AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.404G>A	4.37:g.83971131G>A	ENSP00000264389:p.Gly135Glu		84190155	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	G	35	5.456580	0.96223	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000503682;ENST00000511653	T;T;T;T	0.48201	0.84;0.85;0.82;0.82	5.64	5.64	0.86602	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.90814	3.15	0.80722	D	1	D;D;D;P	0.71674	0.993;0.994;0.998;0.778	D;D;P;P	0.68353	0.91;0.957;0.817;0.516	T	0.74609	-0.3608	10	0.31617	T	0.26	-19.3077	19.7164	0.96122	0.0:0.0:1.0:0.0	.	135;135;135;135	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	E	135	ENSP00000425976:G135E;ENSP00000264389:G135E;ENSP00000424791:G135E;ENSP00000424655:G135E	ENSP00000264389:G135E	G	+	2	0	COPS4	84190155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.645000	0.98471	2.662000	0.90505	0.650000	0.86243	GGA		0.343	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			A	83971131	G	A	83971131	3	1	183	1	0	0	0	0	1	0	0	0	3735	1174	41	2	418	2	COPS4	4	83971131	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09		83971131	107183145	25	10372											
PTPN13	5783	genome.wustl.edu	37	4	87695539	87695539	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr4:87695539T>A	ENST00000411767.2	+	33	5426	c.5363T>A	c.(5362-5364)cTc>cAc	p.L1788H	PTPN13_ENST00000427191.2_Missense_Mutation_p.L1769H|PTPN13_ENST00000316707.6_Missense_Mutation_p.L1597H|PTPN13_ENST00000436978.1_Missense_Mutation_p.L1793H|PTPN13_ENST00000511467.1_Missense_Mutation_p.L1793H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1788	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTAGAACTCCTCATTACCCTA	0.363																																																0			4											32	31	31					4																	87695539		1824	4081	5905	87914563	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5363T>A	4.37:g.87695539T>A	ENSP00000407249:p.Leu1788His		87914563	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	7.116	0.577006	0.13686	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.33	-0.915	0.10494	PDZ/DHR/GLGF (2);	0.545711	0.15091	N	0.281077	T	0.16214	0.0390	N	0.05554	-0.025	0.21984	N	0.999435	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.001;0.0	T	0.22138	-1.0225	10	0.14656	T	0.56	.	4.515	0.11930	0.5024:0.1756:0.0:0.322	.	1597;1769;1788;1793	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	1769;1793;1597;1788;1793;1737	ENSP00000408368:L1769H;ENSP00000394794:L1793H;ENSP00000322675:L1597H;ENSP00000407249:L1788H;ENSP00000426626:L1793H	ENSP00000322675:L1597H	L	+	2	0	PTPN13	87914563	0.004000	0.15560	0.107000	0.21349	0.927000	0.56198	0.402000	0.20965	0.102000	0.17638	0.460000	0.39030	CTC		0.363	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			A	87695539	T	A	87695539	3	1	183	1	0	0	0	0	1	0	0	0	12785	1551	54	5	5504	5	PTPN13	4	87695539	Missense_Mutation	SNP	T	TCGA-23-1114-01B-01W-0633-09	3724408	87695539	103458737	26	10373											
ARSJ	79642	genome.wustl.edu	37	4	114824798	114824798	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr4:114824798G>C	ENST00000315366.7	-	2	1298	c.432C>G	c.(430-432)atC>atG	p.I144M	ARSJ_ENST00000541197.1_Missense_Mutation_p.I144M	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	144					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TAGGTCTTATGATAGAATGTT	0.393																																																0			4											197	176	182					4																	114824798		1838	4092	5930	115044247	SO:0001583	missense	79642				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.432C>G	4.37:g.114824798G>C	ENSP00000320219:p.Ile144Met		115044247	A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176115	0.57692	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.98617	-5.03;-5.03	5.68	5.68	0.88126	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98570	0.9522	M	0.62209	1.925	0.45015	D	0.998036	D;D	0.61080	0.989;0.981	D;D	0.71656	0.974;0.962	D	0.97957	1.0335	10	0.49607	T	0.09	.	9.8691	0.41164	0.0716:0.0:0.7899:0.1385	.	144;144	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	M	144	ENSP00000320219:I144M;ENSP00000438836:I144M	ENSP00000320219:I144M	I	-	3	3	ARSJ	115044247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.660000	0.54496	2.675000	0.91044	0.655000	0.94253	ATC		0.393	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		C	114824798	G	C	114824798	3	2	183	1	0	0	0	0	1	0	0	0	995	1280	45	3	1371	3	ARSJ	4	114824798	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	27129259	114824798	76329478	27	10374											
PRDM5	11107	genome.wustl.edu	37	4	121774644	121774644	+	Silent	SNP	G	G	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr4:121774644G>T	ENST00000264808.3	-	3	469	c.229C>A	c.(229-231)Cgg>Agg	p.R77R	PRDM5_ENST00000428209.2_Silent_p.R77R|PRDM5_ENST00000515109.1_Silent_p.R77R|PRDM5_ENST00000394435.2_Silent_p.R77R	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	77	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTGGAGTGCCGTGGGTTGGTA	0.448																																																0			4											299	293	295					4																	121774644		2203	4300	6503	121994094	SO:0001819	synonymous_variant	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.229C>A	4.37:g.121774644G>T			121994094	Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	CCDS3716.1																																																																																				0.448	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			T	121774644	G	T	121774644	2	4	183	1	0	0	0	0	0	0	0	1	12463	1144	40	3		3	PRDM5	4	121774644	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09	6949846	121774644	69379632	28	10375											
ADCY2	108	genome.wustl.edu	37	5	7695938	7695938	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr5:7695938C>G	ENST00000338316.4	+	6	1032	c.943C>G	c.(943-945)Ctg>Gtg	p.L315V	ADCY2_ENST00000537121.1_Missense_Mutation_p.L135V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	315					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGTCCACATGCTGAATGAGCT	0.443																																																0			5											113	104	108					5																	7695938		2203	4300	6503	7748938	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.943C>G	5.37:g.7695938C>G	ENSP00000342952:p.Leu315Val		7748938	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325988	0.60743	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.86230	-2.09;-2.09	5.51	4.64	0.57946	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.95683	0.8596	H	0.99026	4.405	0.39623	D	0.970059	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.994	D	0.95897	0.8912	10	0.87932	D	0	.	8.9645	0.35867	0.0:0.7263:0.0:0.2737	.	135;315	B7Z2C1;Q08462	.;ADCY2_HUMAN	V	315;166;135	ENSP00000342952:L315V;ENSP00000444803:L135V	ENSP00000342952:L315V	L	+	1	2	ADCY2	7748938	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.165000	0.31822	1.446000	0.47643	0.655000	0.94253	CTG		0.443	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		G	7695938	C	G	7695938	3	3	183	1	0	0	0	0	1	0	0	0	294	796	28	3	965	3	ADCY2	5	7695938	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09		7695938	173219322	29	10376											
MARCH6	10299	genome.wustl.edu	37	5	10415676	10415676	+	Silent	SNP	T	T	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr5:10415676T>G	ENST00000274140.5	+	21	2175	c.2043T>G	c.(2041-2043)ggT>ggG	p.G681G	MARCH6_ENST00000503788.1_Silent_p.G576G|MARCH6_ENST00000449913.2_Silent_p.G633G|MARCH6_ENST00000510792.1_Silent_p.G379G	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	681					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTGCTTGTGGTCTCTATGTTT	0.478																																																0			5											255	228	237					5																	10415676		2203	4300	6503	10468676	SO:0001819	synonymous_variant	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2043T>G	5.37:g.10415676T>G			10468676	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	CCDS34135.1																																																																																				0.478	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		G	10415676	T	G	10415676	2	3	183	1	0	0	0	0	0	0	0	1	9305	1654	58	5		5	MARCH6	5	10415676	Silent	SNP	T	TCGA-23-1114-01B-01W-0633-09	2719738	10415676	170499584	30	10377											
NUP155	9631	genome.wustl.edu	37	5	37302961	37302961	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr5:37302961G>C	ENST00000231498.3	-	29	3570	c.3367C>G	c.(3367-3369)Ctt>Gtt	p.L1123V	NUP155_ENST00000381843.2_Missense_Mutation_p.L1064V|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.L1059V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1123					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGCACTAAGAATGGCTCGA	0.373																																																0			5											133	134	133					5																	37302961		2203	4300	6503	37338718	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3367C>G	5.37:g.37302961G>C	ENSP00000231498:p.Leu1123Val		37338718	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665226	0.29604	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.77877	-1.13;-1.12;-1.12	5.44	5.44	0.79542	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66015	0.2747	L	0.39245	1.2	0.58432	D	0.999998	B;B	0.32526	0.374;0.127	B;B	0.31101	0.097;0.124	T	0.61417	-0.7067	10	0.16420	T	0.52	.	10.4091	0.44282	0.1198:0.0:0.8802:0.0	.	1059;1123	E9PF10;O75694	.;NU155_HUMAN	V	1123;1064;1085;1059	ENSP00000231498:L1123V;ENSP00000371265:L1064V;ENSP00000422019:L1059V	ENSP00000231498:L1123V	L	-	1	0	NUP155	37338718	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.106000	0.71511	2.550000	0.86006	0.591000	0.81541	CTT		0.373	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		C	37302961	G	C	37302961	3	2	183	1	0	0	0	0	1	0	0	0	10756	942	33	3	836	3	NUP155	5	37302961	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	26887285	37302961	143612299	31	10378											
PCDHB7	56129	genome.wustl.edu	37	5	140552444	140552444	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr5:140552444C>A	ENST00000231137.3	+	1	202	c.28C>A	c.(28-30)Cag>Aag	p.Q10K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	10					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGCTGTGCAGAAAAGGCA	0.512																																																0			5											188	159	169					5																	140552444		2203	4300	6503	140532628	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.28C>A	5.37:g.140552444C>A	ENSP00000231137:p.Gln10Lys		140532628	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.301377	0.01364	.	.	ENSG00000113212	ENST00000231137	T	0.47177	0.85	4.56	3.68	0.42216	.	.	.	.	.	T	0.26991	0.0661	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14309	-1.0477	9	0.24483	T	0.36	.	5.76	0.18195	0.348:0.5612:0.0:0.0908	.	10	Q9Y5E2	PCDB7_HUMAN	K	10	ENSP00000231137:Q10K	ENSP00000231137:Q10K	Q	+	1	0	PCDHB7	140532628	0.005000	0.15991	0.400000	0.26346	0.049000	0.14656	0.512000	0.22755	1.240000	0.43803	0.650000	0.86243	CAG		0.512	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140552444	C	A	140552444	3	1	183	1	0	0	0	0	1	0	0	0	11547	711	25	3	30	3	PCDHB7	5	140552444	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	103249483	140552444	40362816	32	10379											
PCDHB13	56123	genome.wustl.edu	37	5	140595283	140595283	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr5:140595283C>T	ENST00000341948.4	+	1	1775	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.672																																																0			5											59	68	65					5																	140595283		2203	4300	6503	140575467	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1588C>T	5.37:g.140595283C>T	ENSP00000345491:p.Arg530Cys		140575467	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	11.05	1.525206	0.27299	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.01767	4.65	3.42	-5.59	0.02505	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01523	0.0049	L	0.55743	1.74	0.09310	N	1	P	0.35174	0.488	B	0.24394	0.053	T	0.38134	-0.9675	9	0.54805	T	0.06	.	4.1035	0.10025	0.1858:0.307:0.4107:0.0964	.	530	Q9Y5F0	PCDBD_HUMAN	C	530	ENSP00000345491:R530C	ENSP00000345491:R530C	R	+	1	0	PCDHB13	140575467	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-5.426000	0.00123	-0.626000	0.05596	0.449000	0.29647	CGC		0.672	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140595283	C	T	140595283	3	4	183	1	0	0	0	0	1	0	0	0	11538	652	23	1	1590	1	PCDHB13	5	140595283	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	42839	140595283	40319977	33	10380											
FBXO38	81545	genome.wustl.edu	37	5	147806900	147806900	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr5:147806900C>G	ENST00000340253.5	+	15	2211	c.2043C>G	c.(2041-2043)atC>atG	p.I681M	FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000394370.3_Missense_Mutation_p.I681M			Q6PIJ6	FBX38_HUMAN	F-box protein 38	681					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCAGATCAAAGCCGATA	0.498																																																0			5											64	59	60					5																	147806900		2203	4300	6503	147787093	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2043C>G	5.37:g.147806900C>G	ENSP00000342023:p.Ile681Met		147787093	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	C	14.92	2.680787	0.47886	.	.	ENSG00000145868	ENST00000340253;ENST00000394370	T;T	0.42513	0.98;0.97	5.89	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.80764	0.858;0.994	T	0.47787	-0.9090	10	0.66056	D	0.02	-13.4282	6.6942	0.23189	0.2978:0.6209:0.0:0.0813	.	681;681	Q6PIJ6-2;Q6PIJ6	.;FBX38_HUMAN	M	681	ENSP00000342023:I681M;ENSP00000377895:I681M	ENSP00000342023:I681M	I	+	3	3	FBXO38	147787093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.688000	0.25422	2.793000	0.96121	0.655000	0.94253	ATC		0.498	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		G	147806900	C	G	147806900	3	3	183	1	0	0	0	0	1	0	0	0	5746	816	29	3	2097	3	FBXO38	5	147806900	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	7211617	147806900	33108360	34	10381											
RPS14	6208	genome.wustl.edu	37	5	149826457	149826467	+	Frame_Shift_Del	DEL	AGCATATGGTG	AGCATATGGTG	-	rs200242397|rs11538774		TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	AGCATATGGTG	AGCATATGGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr5:149826457_149826467delAGCATATGGTG	ENST00000401695.3	-	3	255_265	c.209_219delCACCATATGCT	c.(208-219)tcaccatatgctfs	p.SPYA70fs	RPS14_ENST00000312037.5_Frame_Shift_Del_p.SPYA70fs|RPS14_ENST00000407193.1_Frame_Shift_Del_p.SPYA70fs			P62263	RS14_HUMAN	ribosomal protein S14	70					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAACATAGCAGCATATGGTGAGGATTCATC	0.545																																																0			5																																								149806660	SO:0001589	frameshift_variant	6208				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"S ribosomal proteins"	10387	protein-coding gene	gene with protein product	"emetine resistance", "40S ribosomal protein S14"	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.209_219delCACCATATGCT	5.37:g.149826457_149826467delAGCATATGGTG	ENSP00000385958:p.Ser70fs		149806650	B2R5G5|D3DQG5|P06366|Q5BJI0	Frame_Shift_Del	DEL	ENST00000401695.3	37	CCDS4307.1																																																																																				0.545	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252373.1	NM_001025071		-	149826467	AGCATATGGTG	-	149826457	7	5	183	1	0	1	0	1	0	0	0	0	13627	175	7	0	248	0	RPS14	5	149826457	Frame_Shift_Del	DEL	AGCATATGGTG	TCGA-23-1114-01B-01W-0633-09	2019557	149826457	31088803	35	10382											
ODZ2	57451	genome.wustl.edu	37	5	167631496	167631496	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr5:167631496G>C	ENST00000518659.1	+	19	3733	c.3694G>C	c.(3694-3696)Gct>Cct	p.A1232P	TENM2_ENST00000520394.1_Missense_Mutation_p.A1000P|TENM2_ENST00000519204.1_Missense_Mutation_p.A1111P|TENM2_ENST00000545108.1_Missense_Mutation_p.A1232P|TENM2_ENST00000403607.2_Missense_Mutation_p.A1056P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1232					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAACGGCCTTGCTGAAGGCAA	0.577																																																0			5											77	78	78					5																	167631496		2007	4175	6182	167564074	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3694G>C	5.37:g.167631496G>C	ENSP00000429430:p.Ala1232Pro		167564074	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	g	28.2	4.903573	0.92035	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91945	-2.47;-2.43;-2.59;-2.94;-2.94	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96442	0.8839	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	D	0.97038	0.9755	10	0.66056	D	0.02	.	18.1219	0.89574	0.0:0.0:1.0:0.0	.	1232;1232;1000	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	P	1232;1232;1111;1000;1056	ENSP00000429430:A1232P;ENSP00000438635:A1232P;ENSP00000428964:A1111P;ENSP00000427874:A1000P;ENSP00000384905:A1056P	ENSP00000384905:A1056P	A	+	1	0	ODZ2	167564074	1.000000	0.71417	0.851000	0.33527	0.879000	0.50718	9.866000	0.99616	2.255000	0.74692	0.550000	0.68814	GCT		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		C	167631496	G	C	167631496	3	2	183	1	0	0	0	0	1	0	0	0	10835	1319	46	3	3741	3	ODZ2	5	167631496	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	17805039	167631496	13283764	36	10383											
HIVEP1	3096	genome.wustl.edu	37	6	12120832	12120832	+	Silent	SNP	T	T	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr6:12120832T>C	ENST00000379388.2	+	4	1136	c.804T>C	c.(802-804)gcT>gcC	p.A268A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	268					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATATGTCTGCTGCTCAGAAGA	0.408																																																0			6											127	115	118					6																	12120832		1924	4151	6075	12228818	SO:0001819	synonymous_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.804T>C	6.37:g.12120832T>C			12228818	B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	CCDS43426.1																																																																																				0.408	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		C	12120832	T	C	12120832	2	2	183	1	0	0	0	0	0	0	0	1	7186	1567	55	4		4	HIVEP1	6	12120832	Silent	SNP	T	TCGA-23-1114-01B-01W-0633-09		12120832	158994235	37	10384											
RPS10	6204	genome.wustl.edu	37	6	34392999	34392999	+	Splice_Site	SNP	C	C	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr6:34392999C>A	ENST00000326199.8	-	2	94		c.e2-1		RPS10_ENST00000494077.1_Splice_Site|RPS10-NUDT3_ENST00000605528.1_Splice_Site|RPS10_ENST00000344700.3_5'Flank	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						GCATCAACATCTGCAAGAAGG	0.493																																					Colon(121;749 1624 4895 8687 22360)											0			6											12	13	13					6																	34392999		2198	4282	6480	34500977	SO:0001630	splice_region_variant	6204			U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"S ribosomal proteins"	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.1-1G>T	6.37:g.34392999C>A			34500977	B2R4E3|Q5TZC0	Splice_Site	SNP	ENST00000326199.8	37	CCDS4792.1																																																																																				0.493	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1		Intron	A	34392999	C	A	34392999	5	1	183	1	0	0	0	0	0	0	1	0	13623	927	32	3	517	3	RPS10	6	34392999	Splice_Site	SNP	C	TCGA-23-1114-01B-01W-0633-09	22272167	34392999	136722068	38	10385											
AKAP12	9590	genome.wustl.edu	37	6	151669871	151669871	+	Silent	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr6:151669871G>C	ENST00000253332.1	+	3	534	c.345G>C	c.(343-345)gtG>gtC	p.V115V	AKAP12_ENST00000354675.6_Silent_p.V17V|AKAP12_ENST00000402676.2_Silent_p.V115V|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Silent_p.V10V|snoU13_ENST00000458767.1_RNA			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	115					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CTGAAGATGTGAGCAAAAGAG	0.453																																					Melanoma(141;1616 1805 10049 24534 51979)											0			6											36	35	35					6																	151669871		2203	4300	6503	151711564	SO:0001819	synonymous_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.345G>C	6.37:g.151669871G>C			151711564	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.453	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			C	151669871	G	C	151669871	2	2	183	1	0	0	0	0	0	0	0	1	448	1277	45	3		3	AKAP12	6	151669871	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09	117276872	151669871	19445196	39	10386											
CCDC129	223075	genome.wustl.edu	37	7	31594114	31594114	+	Silent	SNP	G	G	A	rs200034335		TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr7:31594114G>A	ENST00000407970.3	+	3	227	c.189G>A	c.(187-189)caG>caA	p.Q63Q	CCDC129_ENST00000409210.1_5'UTR|CCDC129_ENST00000451887.2_Silent_p.Q89Q|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000319386.3_Silent_p.Q63Q	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	63										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAGTATTCAGCAGTGGCTGG	0.413																																																0			7											100	99	100					7																	31594114		2203	4300	6503	31560639	SO:0001819	synonymous_variant	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.189G>A	7.37:g.31594114G>A			31560639	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	CCDS5435.2																																																																																				0.413	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		A	31594114	G	A	31594114	2	1	183	1	0	0	0	0	0	0	0	1	2764	962	34	2		2	CCDC129	7	31594114	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09		31594114	127544549	40	10387											
NPC1L1	29881	genome.wustl.edu	37	7	44578506	44578506	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr7:44578506T>C	ENST00000289547.4	-	2	1545	c.1490A>G	c.(1489-1491)aAc>aGc	p.N497S	NPC1L1_ENST00000546276.1_Missense_Mutation_p.N497S|NPC1L1_ENST00000423141.1_Missense_Mutation_p.N497S|NPC1L1_ENST00000381160.3_Missense_Mutation_p.N497S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	497					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGCGTGCGGTTGTTCTGGAA	0.547																																																0			7											142	124	130					7																	44578506		2203	4300	6503	44545031	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1490A>G	7.37:g.44578506T>C	ENSP00000289547:p.Asn497Ser		44545031	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	t	0.424	-0.906819	0.02434	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.07	5.07	0.68467	.	0.265269	0.42420	D	0.000709	T	0.79040	0.4379	N	0.16307	0.4	0.32613	N	0.524311	B;B;B;B	0.19200	0.034;0.028;0.002;0.009	B;B;B;B	0.19391	0.025;0.013;0.007;0.009	T	0.74659	-0.3591	10	0.11485	T	0.65	-19.9189	12.7542	0.57325	0.0:0.0:0.0:1.0	.	497;497;497;497	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	S	497	ENSP00000289547:N497S;ENSP00000370552:N497S;ENSP00000438033:N497S;ENSP00000404670:N497S	ENSP00000289547:N497S	N	-	2	0	NPC1L1	44545031	1.000000	0.71417	0.942000	0.38095	0.743000	0.42351	2.573000	0.46007	1.904000	0.55121	0.334000	0.21626	AAC		0.547	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		C	44578506	T	C	44578506	3	2	183	1	0	0	0	0	1	0	0	0	10571	1725	60	4	2665	4	NPC1L1	7	44578506	Missense_Mutation	SNP	T	TCGA-23-1114-01B-01W-0633-09	12984392	44578506	114560157	41	10388											
ABCA13	154664	genome.wustl.edu	37	7	48356770	48356793	+	In_Frame_Del	DEL	GCTTTATCAGGAAATTCTACAATT	GCTTTATCAGGAAATTCTACAATT	-	rs370598060		TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	GCTTTATCAGGAAATTCTACAATT	GCTTTATCAGGAAATTCTACAATT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr7:48356770_48356793delGCTTTATCAGGAAATTCTACAATT	ENST00000435803.1	+	27	9900_9923	c.9876_9899delGCTTTATCAGGAAATTCTACAATT	c.(9874-9900)aagctttatcaggaaattctacaattg>aag	p.LYQEILQL3293del		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3293					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGCTTGAAGCTTTATCAGGAAATTCTACAATTGCCAAATGGT	0.362																																																0			7																																								48327339	SO:0001651	inframe_deletion	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9876_9899delGCTTTATCAGGAAATTCTACAATT	7.37:g.48356770_48356793delGCTTTATCAGGAAATTCTACAATT	ENSP00000411096:p.Leu3293_Leu3300del		48327316	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	In_Frame_Del	DEL	ENST00000435803.1	37	CCDS47584.1																																																																																				0.362	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		-	48356793	GCTTTATCAGGAAATTCTACAATT	-	48356770	7	5	183	1	0	1	0	1	0	0	0	0	31	962	34	0	9811	0	ABCA13	7	48356770	In_Frame_Del	DEL	GCTTTATCAGGAAATTCTACAATT	TCGA-23-1114-01B-01W-0633-09	3778264	48356770	110781893	42	10389											
RSBN1L	222194	genome.wustl.edu	37	7	77408439	77408439	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr7:77408439C>T	ENST00000334955.8	+	8	2522	c.2495C>T	c.(2494-2496)tCa>tTa	p.S832L	RSBN1L_ENST00000445288.1_Missense_Mutation_p.S562L	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	832						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAACACAGTTCAGCACATTCA	0.284																																																0			7											32	31	32					7																	77408439		1831	4071	5902	77246375	SO:0001583	missense	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2495C>T	7.37:g.77408439C>T	ENSP00000334040:p.Ser832Leu		77246375	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334648	0.41297	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.83	4.02	0.46733	.	0.224192	0.32287	N	0.006311	T	0.28599	0.0708	L	0.29908	0.895	0.32927	D	0.516647	B	0.12013	0.005	B	0.11329	0.006	T	0.32561	-0.9902	9	0.05525	T	0.97	-2.6742	8.1178	0.30953	0.0:0.7306:0.1305:0.1389	.	832	Q6PCB5	RSBNL_HUMAN	L	832;562	.	ENSP00000334040:S832L	S	+	2	0	RSBN1L	77246375	0.951000	0.32395	0.780000	0.31762	0.978000	0.69477	1.207000	0.32333	0.800000	0.34041	0.655000	0.94253	TCA		0.284	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		T	77408439	C	T	77408439	3	4	183	1	0	0	0	0	1	0	0	0	13700	838	29	2	2525	2	RSBN1L	7	77408439	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	29051669	77408439	81730224	43	10390											
MGC26647	219557	genome.wustl.edu	37	7	88424242	88424242	+	Silent	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr7:88424242G>A	ENST00000297203.2	-	2	200	c.15C>T	c.(13-15)gtC>gtT	p.V5V	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	5										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGGTTATGGACCGAAAAGG	0.413																																																0			7											97	105	102					7																	88424242		2200	4299	6499	88262178	SO:0001819	synonymous_variant	219557			BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.15C>T	7.37:g.88424242G>A			88262178		Silent	SNP	ENST00000297203.2	37	CCDS34678.1																																																																																				0.413	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		A	88424242	G	A	88424242	2	1	183	1	0	0	0	0	0	0	0	1	9550	1161	41	2		2	MGC26647	7	88424242	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09	11015803	88424242	70714421	44	10391											
ZNF282	8427	genome.wustl.edu	37	7	148895442	148895442	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr7:148895442G>A	ENST00000262085.3	+	2	288	c.183G>A	c.(181-183)atG>atA	p.M61I	ZNF282_ENST00000479907.1_Missense_Mutation_p.M61I	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	61					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AATGGGACATGGACGCCCGGC	0.587																																																0			7											61	60	61					7																	148895442		2201	4300	6501	148526375	SO:0001583	missense	8427			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.183G>A	7.37:g.148895442G>A	ENSP00000262085:p.Met61Ile		148526375	B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422649	0.43020	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.05717	3.4;5.2	4.56	3.64	0.41730	.	0.000000	0.51477	D	0.000085	T	0.09818	0.0241	N	0.24115	0.695	0.30959	N	0.72385	P;P;P;P	0.45126	0.851;0.851;0.851;0.851	P;P;P;P	0.58391	0.838;0.838;0.838;0.838	T	0.05616	-1.0874	10	0.24483	T	0.36	-32.5932	10.7085	0.45969	0.0:0.1921:0.8079:0.0	.	61;12;33;61	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	I	61	ENSP00000262085:M61I;ENSP00000418840:M61I	ENSP00000262085:M61I	M	+	3	0	ZNF282	148526375	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.264000	0.43302	2.096000	0.63516	0.313000	0.20887	ATG		0.587	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		A	148895442	G	A	148895442	3	1	183	1	0	0	0	0	1	0	0	0	17819	1348	47	2	189	2	ZNF282	7	148895442	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	60471200	148895442	10243221	45	10392											
ADAM7	8756	genome.wustl.edu	37	8	24344811	24344811	+	Missense_Mutation	SNP	G	G	A	rs146451180	byFrequency	TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr8:24344811G>A	ENST00000175238.6	+	11	1155	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	ADAM7_ENST00000380789.1_Missense_Mutation_p.V358M|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.V130M|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	358	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGGAAAATGCGTGATGGACAG	0.463													G|||	17	0.00339457	0	0.0014	5008	,	,		20616	0		0.004	False		,,,				2504	0.0123															0			8						G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	107	80	89		1072	5	1	8	dbSNP_134	89	25,8575	17.9+/-57.8	0,25,4275	yes	missense	ADAM7	NM_003817.2	21	0,27,6476	AA,AG,GG		0.2907,0.0454,0.2076	probably-damaging	358/755	24344811	27,12979	2203	4300	6503	24400701	SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1072G>A	8.37:g.24344811G>A	ENSP00000175238:p.Val358Met		24400701	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	13.57	2.276436	0.40294	4.54E-4	0.002907	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.37411	1.2;1.2;1.2	5.03	5.03	0.67393	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.50627	D	0.000116	T	0.58047	0.2095	M	0.78801	2.425	0.34320	D	0.686517	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71731	-0.4504	10	0.87932	D	0	.	9.4766	0.38875	0.0973:0.0:0.9027:0.0	.	130;358	E5RK87;Q9H2U9	.;ADAM7_HUMAN	M	358;358;130;173	ENSP00000175238:V358M;ENSP00000370166:V358M;ENSP00000430400:V130M	ENSP00000175238:V358M	V	+	1	0	ADAM7	24400701	0.998000	0.40836	0.995000	0.50966	0.222000	0.24845	2.890000	0.48609	2.331000	0.79229	0.561000	0.74099	GTG		0.463	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		A	24344811	G	A	24344811	3	1	183	1	0	0	0	0	1	0	0	0	251	1145	40	1	1114	1	ADAM7	8	24344811	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09		24344811	122019211	46	10393											
C8orf47	203111	genome.wustl.edu	37	8	99101307	99101307	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr8:99101307C>A	ENST00000318528.3	+	2	421	c.62C>A	c.(61-63)aCt>aAt	p.T21N	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		21										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			ACCAAAGTAACTTCAAATGAG	0.333																																																0			8											39	38	38					8																	99101307		2203	4300	6503	99170483	SO:0001583	missense	203111																														ENST00000318528.3:c.62C>A	8.37:g.99101307C>A	ENSP00000315614:p.Thr21Asn		99170483	G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220988	0.39201	.	.	ENSG00000177459	ENST00000318528	T	0.30448	1.53	4.76	4.76	0.60689	.	0.532611	0.15901	N	0.239073	T	0.39226	0.1070	L	0.40543	1.245	0.80722	D	1	D	0.57257	0.979	P	0.54664	0.758	T	0.08146	-1.0736	10	0.52906	T	0.07	-0.5167	13.4541	0.61189	0.0:1.0:0.0:0.0	.	21	Q6P6B1	CH047_HUMAN	N	21	ENSP00000315614:T21N	ENSP00000315614:T21N	T	+	2	0	C8orf47	99170483	0.987000	0.35691	0.908000	0.35775	0.144000	0.21451	0.790000	0.26900	2.634000	0.89283	0.655000	0.94253	ACT		0.333	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			A	99101307	C	A	99101307	3	1	183	1	0	0	0	0	1	0	0	0	2432	565	20	3	68	3	C8orf47	8	99101307	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	74756496	99101307	47262715	47	10394											
POP1	10940	genome.wustl.edu	37	8	99161225	99161225	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr8:99161225G>T	ENST00000401707.2	+	13	1974	c.1893G>T	c.(1891-1893)tgG>tgT	p.W631C	POP1_ENST00000349693.3_Missense_Mutation_p.W631C	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	631					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGGCTTTCTGGATTCCATTTG	0.403																																																0			8											54	48	50					8																	99161225		2203	4300	6503	99230401	SO:0001583	missense	10940			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1893G>T	8.37:g.99161225G>T	ENSP00000385787:p.Trp631Cys		99230401	A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986436	0.74589	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.66460	-0.21;-0.21	5.46	5.46	0.80206	POPLD (1);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88832	0.3306	10	0.87932	D	0	-7.4411	17.4961	0.87718	0.0:0.0:1.0:0.0	.	631	Q99575	POP1_HUMAN	C	631	ENSP00000385787:W631C;ENSP00000339529:W631C	ENSP00000339529:W631C	W	+	3	0	POP1	99230401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.567000	0.86603	0.655000	0.94253	TGG		0.403	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		T	99161225	G	T	99161225	3	4	183	1	0	0	0	0	1	0	0	0	12251	1183	41	3	1939	3	POP1	8	99161225	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	59918	99161225	47202797	48	10395											
PPAPDC2	403313	genome.wustl.edu	37	9	4662652	4662652	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr9:4662652G>T	ENST00000381883.2	+	1	355	c.277G>T	c.(277-279)Gac>Tac	p.D93Y	SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000454239.2_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	93						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGACCGCATGGACTTGAACCC	0.716											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(187;1057 3809 8526)											0			9											22	24	23					9																	4662652		2200	4298	6498	4652652	SO:0001583	missense	403313			AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"polyisoprenoid diphosphate phosphatase type 1"	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.277G>T	9.37:g.4662652G>T	ENSP00000371307:p.Asp93Tyr	620	4652652	B3KY05|Q5JVJ6|Q8NCK9	Missense_Mutation	SNP	ENST00000381883.2	37	CCDS34981.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812900	0.50527	.	.	ENSG00000205808	ENST00000381883;ENST00000537542	T	0.14766	2.48	4.76	1.56	0.23342	.	0.523497	0.19930	U	0.102882	T	0.07863	0.0197	L	0.40543	1.245	0.22629	N	0.998913	P	0.44877	0.845	B	0.34536	0.185	T	0.30208	-0.9986	10	0.66056	D	0.02	-26.6401	3.0786	0.06254	0.3303:0.221:0.4487:0.0	.	93	Q8IY26	PPAC2_HUMAN	Y	93;2	ENSP00000371307:D93Y	ENSP00000371307:D93Y	D	+	1	0	PPAPDC2	4652652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.825000	0.27393	0.556000	0.29098	0.655000	0.94253	GAC		0.716	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		T	4662652	G	T	4662652	3	4	183	1	0	0	0	0	1	0	0	0	12295	1174	41	3	279	3	PPAPDC2	9	4662652	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09		4662652	136550779	49	10396											
KIAA1529	100499483	genome.wustl.edu	37	9	100133988	100133988	+	Splice_Site	SNP	A	A	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr9:100133988A>G	ENST00000357054.1	+	46	5502	c.4567A>G	c.(4567-4569)Agg>Ggg	p.R1523G	CCDC180_ENST00000529487.1_Splice_Site_p.R1578G|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Splice_Site_p.R1578G|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1523						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCAGGTTGCAAGTAAGAGGCA	0.532																																																0			9											111	90	97					9																	100133988		2203	4300	6503	99173809	SO:0001630	splice_region_variant	57653			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4567+1A>G	9.37:g.100133988A>G			99173809	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	A	16.63	3.176245	0.57692	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.40756	1.02;1.02;1.02	5.29	2.86	0.33363	.	0.774398	0.12189	N	0.491383	T	0.37625	0.1010	L	0.51422	1.61	0.25562	N	0.986987	B;P	0.42078	0.137;0.77	B;B	0.39217	0.086;0.294	T	0.16070	-1.0415	10	0.72032	D	0.01	-2.6941	9.7271	0.40339	0.6471:0.3529:0.0:0.0	.	1717;1523	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	G	1523;1578;1578	ENSP00000349562:R1523G;ENSP00000364348:R1578G;ENSP00000434727:R1578G	ENSP00000349562:R1523G	R	+	1	2	C9orf174	99173809	1.000000	0.71417	0.996000	0.52242	0.640000	0.38277	2.580000	0.46068	0.382000	0.24878	0.459000	0.35465	AGG		0.532	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	Missense_Mutation	G	100133988	A	G	100133988	5	3	183	1	0	0	0	0	0	0	1	0	8240	86	3	4	4705	4	KIAA1529	9	100133988	Splice_Site	SNP	A	TCGA-23-1114-01B-01W-0633-09	95471336	100133988	41079443	50	10397											
C9orf125	84302	genome.wustl.edu	37	9	104239151	104239151	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr9:104239151G>A	ENST00000374851.1	-	4	1371	c.224C>T	c.(223-225)gCt>gTt	p.A75V	RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.A75V|TMEM246_ENST00000374847.1_Missense_Mutation_p.A75V|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	75						integral component of membrane (GO:0016021)											GTGGAGGGCAGCCTCACCCTC	0.552																																																0			9											65	64	65					9																	104239151		2203	4300	6503	103278972	SO:0001583	missense	84302			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.224C>T	9.37:g.104239151G>A	ENSP00000363984:p.Ala75Val		103278972	Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	g	12.56	1.975441	0.34848	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.63	5.63	0.86233	.	0.184772	0.47093	D	0.000245	T	0.36138	0.0956	N	0.25647	0.755	0.34647	D	0.721215	D	0.52996	0.957	B	0.42692	0.395	T	0.47661	-0.9100	9	0.30854	T	0.27	-9.9823	13.1223	0.59334	0.0:0.0:0.7284:0.2716	.	75	Q9BRR3	CI125_HUMAN	V	75	.	ENSP00000363980:A75V	A	-	2	0	C9orf125	103278972	0.997000	0.39634	1.000000	0.80357	0.917000	0.54804	2.659000	0.46741	2.636000	0.89361	0.645000	0.84053	GCT		0.552	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		A	104239151	G	A	104239151	3	1	183	1	0	0	0	0	1	0	0	0	2454	971	34	2	991	2	C9orf125	9	104239151	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	4105163	104239151	36974280	51	10398											
OR1J1	347168	genome.wustl.edu	37	9	125239497	125239497	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr9:125239497C>G	ENST00000259357.2	-	1	738	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GTGGACAAGGCTTTGCATATG	0.463																																																0			9											144	129	134					9																	125239497		2203	4300	6503	124279318	SO:0001583	missense	347168			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.709G>C	9.37:g.125239497C>G	ENSP00000259357:p.Ala237Pro		124279318	A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746730	0.69418	.	.	ENSG00000136834	ENST00000259357	T	0.00363	7.83	4.93	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.103999	0.42821	D	0.000643	T	0.01558	0.0050	H	0.99299	4.505	0.37093	D	0.899557	D	0.89917	1.0	D	0.85130	0.997	T	0.01935	-1.1244	10	0.87932	D	0	.	9.5398	0.39244	0.0:0.8294:0.0:0.1706	.	237	Q8NGS3	OR1J1_HUMAN	P	237	ENSP00000259357:A237P	ENSP00000259357:A237P	A	-	1	0	OR1J1	124279318	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.472000	0.45136	1.455000	0.47813	0.597000	0.82753	GCC		0.463	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			G	125239497	C	G	125239497	3	3	183	1	0	0	0	0	1	0	0	0	10959	797	28	3	262	3	OR1J1	9	125239497	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	21000346	125239497	15973934	52	10399											
SCAI	286205	genome.wustl.edu	37	9	127791975	127791975	+	Missense_Mutation	SNP	C	C	T	rs200106227		TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr9:127791975C>T	ENST00000336505.6	-	4	332	c.274G>A	c.(274-276)Gga>Aga	p.G92R	SCAI_ENST00000373549.4_Missense_Mutation_p.G115R	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	92	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.|Required for interaction with MKL1. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AAAGTTCTTCCAAAATAGGAC	0.333																																																0			9											82	79	80					9																	127791975		1841	4093	5934	126831796	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.274G>A	9.37:g.127791975C>T	ENSP00000336756:p.Gly92Arg		126831796	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079024	0.76528	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.42513	0.97;0.97	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	L	0.46614	1.455	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	T	0.54490	-0.8286	10	0.44086	T	0.13	-15.3376	18.7503	0.91812	0.0:1.0:0.0:0.0	.	92;115	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	R	92;115	ENSP00000336756:G92R;ENSP00000362650:G115R	ENSP00000336756:G92R	G	-	1	0	SCAI	126831796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.777000	0.68931	2.775000	0.95449	0.655000	0.94253	GGA		0.333	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		T	127791975	C	T	127791975	3	4	183	1	0	0	0	0	1	0	0	0	13872	603	21	2	1606	2	SCAI	9	127791975	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	2552478	127791975	13421456	53	10400											
GATA3	2625	genome.wustl.edu	37	10	8115829	8115829	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr10:8115829A>T	ENST00000346208.3	+	6	1630	c.1175A>T	c.(1174-1176)aAc>aTc	p.N392I	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.N393I			P23771	GATA3_HUMAN	GATA binding protein 3	392					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.A395fs*54(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCTCGTTTAACCCGGCCGCC	0.557			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	breast(1)	10											100	102	101					10																	8115829		2203	4300	6503	8155835	SO:0001583	missense	2625			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1175A>T	10.37:g.8115829A>T	ENSP00000341619:p.Asn392Ile		8155835	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513607	0.44763	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96334	-3.98;-3.95	5.26	5.26	0.73747	.	0.148164	0.56097	D	0.000021	D	0.89832	0.6829	N	0.08118	0	0.44880	D	0.997898	P;P	0.46395	0.877;0.713	B;B	0.40506	0.216;0.331	D	0.90621	0.4559	10	0.66056	D	0.02	-9.1164	9.6669	0.39990	0.9222:0.0:0.0778:0.0	.	392;393	P23771;P23771-2	GATA3_HUMAN;.	I	393;392	ENSP00000368632:N393I;ENSP00000341619:N392I	ENSP00000341619:N392I	N	+	2	0	GATA3	8155835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.063000	0.71162	1.981000	0.57761	0.379000	0.24179	AAC		0.557	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		T	8115829	A	T	8115829	3	4	183	1	0	0	0	0	1	0	0	0	6255	43	2	5	1196	5	GATA3	10	8115829	Missense_Mutation	SNP	A	TCGA-23-1114-01B-01W-0633-09		8115829	127418918	54	10401											
PLXDC2	84898	genome.wustl.edu	37	10	20534380	20534380	+	Silent	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr10:20534380G>C	ENST00000377252.4	+	13	2260	c.1419G>C	c.(1417-1419)gtG>gtC	p.V473V	PLXDC2_ENST00000377242.3_Silent_p.V424V|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	473					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCATTCTTGTGACAGTCTATA	0.473																																																0			10											284	243	257					10																	20534380		2203	4300	6503	20574386	SO:0001819	synonymous_variant	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1419G>C	10.37:g.20534380G>C			20574386	Q96E59|Q96PD9|Q96SU9	Silent	SNP	ENST00000377252.4	37	CCDS7132.1																																																																																				0.473	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		C	20534380	G	C	20534380	2	2	183	1	0	0	0	0	0	0	0	1	12118	1277	45	3		3	PLXDC2	10	20534380	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09	12418551	20534380	115000367	55	10402											
MYOZ1	58529	genome.wustl.edu	37	10	75394308	75394308	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr10:75394308C>A	ENST00000359322.4	-	4	800	c.436G>T	c.(436-438)Ggt>Tgt	p.G146C		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCCGCGGGACCACCTGTACCC	0.632																																																0			10											57	60	59					10																	75394308		2203	4300	6503	75064314	SO:0001583	missense	58529			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.436G>T	10.37:g.75394308C>A	ENSP00000352272:p.Gly146Cys		75064314		Missense_Mutation	SNP	ENST00000359322.4	37	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912944	0.52439	.	.	ENSG00000177791	ENST00000359322	T	0.63417	-0.04	6.05	4.17	0.49024	.	0.346432	0.36444	N	0.002596	T	0.71350	0.3329	L	0.56769	1.78	0.51767	D	0.999939	D	0.56521	0.976	P	0.59948	0.866	T	0.71513	-0.4570	10	0.51188	T	0.08	1.0681	12.585	0.56412	0.1326:0.7402:0.1272:0.0	.	146	Q9NP98	MYOZ1_HUMAN	C	146	ENSP00000352272:G146C	ENSP00000352272:G146C	G	-	1	0	MYOZ1	75064314	0.349000	0.24870	0.999000	0.59377	0.076000	0.17211	1.203000	0.32284	0.853000	0.35312	-0.176000	0.13171	GGT		0.632	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			A	75394308	C	A	75394308	3	1	183	1	0	0	0	0	1	0	0	0	10095	594	21	3	475	3	MYOZ1	10	75394308	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	54859928	75394308	60140439	56	10403											
VCL	7414	genome.wustl.edu	37	10	75863620	75863620	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr10:75863620C>G	ENST00000211998.4	+	15	2159	c.2065C>G	c.(2065-2067)Caa>Gaa	p.Q689E	VCL_ENST00000478896.2_3'UTR|VCL_ENST00000372755.3_Missense_Mutation_p.Q689E|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	689	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCCTGGAAATCAAGCTGCTTA	0.408																																																0			10											198	167	178					10																	75863620		2203	4300	6503	75533626	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2065C>G	10.37:g.75863620C>G	ENSP00000211998:p.Gln689Glu		75533626	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251289	0.39797	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.37058	1.22;1.22;1.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.50333	1.59	0.80722	D	1	B;B;P	0.44776	0.038;0.012;0.843	B;B;P	0.61800	0.01;0.01;0.894	T	0.52193	-0.8608	10	0.66056	D	0.02	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	616;689;689	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	E	689;689;596;616;361	ENSP00000361841:Q689E;ENSP00000211998:Q689E;ENSP00000415489:Q361E	ENSP00000211998:Q689E	Q	+	1	0	VCL	75533626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.566000	0.67372	2.788000	0.95919	0.557000	0.71058	CAA		0.408	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		G	75863620	C	G	75863620	3	3	183	1	0	0	0	0	1	0	0	0	17139	827	29	3	2123	3	VCL	10	75863620	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	469312	75863620	59671127	57	10404											
GFRA1	2674	genome.wustl.edu	37	10	117884801	117884801	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr10:117884801G>C	ENST00000355422.6	-	6	1251	c.701C>G	c.(700-702)tCc>tGc	p.S234C	GFRA1_ENST00000439649.3_Missense_Mutation_p.S229C|GFRA1_ENST00000369236.1_Missense_Mutation_p.S229C|GFRA1_ENST00000544592.1_Missense_Mutation_p.S113C	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	234					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTCTTCATAGGAGCACACAGG	0.557																																					Ovarian(128;329 1725 45498 46808 50759)											0			10											75	65	68					10																	117884801		2203	4300	6503	117874791	SO:0001583	missense	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.701C>G	10.37:g.117884801G>C	ENSP00000347591:p.Ser234Cys		117874791	A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970041	0.92855	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.55413	1.03;0.52	5.75	5.75	0.90469	.	0.112810	0.64402	D	0.000007	T	0.76385	0.3980	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.97;0.981	T	0.78640	-0.2125	10	0.72032	D	0.01	-19.3602	19.9522	0.97203	0.0:0.0:1.0:0.0	.	234;229	P56159;P56159-2	GFRA1_HUMAN;.	C	234;229;229;113;229	ENSP00000358239:S229C;ENSP00000442179:S113C	ENSP00000347591:S229C	S	-	2	0	GFRA1	117874791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.725000	0.93324	0.655000	0.94253	TCC		0.557	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		C	117884801	G	C	117884801	3	2	183	1	0	0	0	0	1	0	0	0	6347	1174	41	3	720	3	GFRA1	10	117884801	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	42021181	117884801	17649946	58	10405											
GFRA1	2674	genome.wustl.edu	37	10	117885055	117885055	+	Silent	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr10:117885055G>C	ENST00000355422.6	-	6	997	c.447C>G	c.(445-447)ccC>ccG	p.P149P	GFRA1_ENST00000439649.3_Silent_p.P144P|GFRA1_ENST00000369236.1_Silent_p.P144P|GFRA1_ENST00000544592.1_Silent_p.P28P	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	149					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGTTCCCTTTGGGAATGTGCT	0.522																																					Ovarian(128;329 1725 45498 46808 50759)											0			10											41	36	38					10																	117885055		2203	4300	6503	117875045	SO:0001819	synonymous_variant	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.447C>G	10.37:g.117885055G>C			117875045	A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	CCDS44481.1																																																																																				0.522	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		C	117885055	G	C	117885055	2	2	183	1	0	0	0	0	0	0	0	1	6347	1335	47	3		3	GFRA1	10	117885055	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09	254	117885055	17649692	59	10406											
CUZD1	50624	genome.wustl.edu	37	10	124600783	124600783	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr10:124600783C>T	ENST00000368904.1	-	4	1093	c.144G>A	c.(142-144)atG>atA	p.M48I	CUZD1_ENST00000392790.1_Missense_Mutation_p.M48I|CUZD1_ENST00000545804.1_Missense_Mutation_p.M48I					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GTTGCAGGATCATGGCTTTGT	0.458																																																0			10											198	175	183					10																	124600783		2203	4300	6503	124590773	SO:0001583	missense	50624			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.144G>A	10.37:g.124600783C>T	ENSP00000357900:p.Met48Ile		124590773		Missense_Mutation	SNP	ENST00000368904.1	37	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136565	0.37728	.	.	ENSG00000138161	ENST00000368904;ENST00000545804;ENST00000392790	T;T;T	0.37752	1.18;1.18;1.18	5.42	-1.47	0.08772	CUB (3);	0.915016	0.09027	N	0.859337	T	0.14056	0.0340	N	0.03608	-0.345	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.18808	-1.0325	10	0.66056	D	0.02	0.061	2.7338	0.05234	0.111:0.3557:0.3259:0.2074	.	48	Q86UP6	CUZD1_HUMAN	I	48	ENSP00000357900:M48I;ENSP00000441590:M48I;ENSP00000376540:M48I	ENSP00000357900:M48I	M	-	3	0	CUZD1	124590773	0.000000	0.05858	0.002000	0.10522	0.988000	0.76386	-1.516000	0.02250	-0.636000	0.05524	0.563000	0.77884	ATG		0.458	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		T	124600783	C	T	124600783	3	4	183	1	0	0	0	0	1	0	0	0	4066	826	29	2	1711	2	CUZD1	10	124600783	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	6715728	124600783	10933964	60	10407											
OR52R1	119695	genome.wustl.edu	37	11	4824880	4824880	+	Missense_Mutation	SNP	C	C	T	rs150778227		TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr11:4824880C>T	ENST00000356069.2	-	1	730	c.731G>A	c.(730-732)cGt>cAt	p.R244H	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.R323H|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGAGGAACGTGTGCTAAA	0.473																																																0			11						C	HIS/ARG	0,4402		0,0,2201	86	85	85		731	5.6	1	11	dbSNP_134	85	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR52R1	NM_001005177.3	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	244/316	4824880	1,12997	2201	4298	6499	4781456	SO:0001583	missense	119695			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.731G>A	11.37:g.4824880C>T	ENSP00000348368:p.Arg244His		4781456	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616511	0.66672	0.0	1.16E-4	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00091	8.74;8.74	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.116326	0.39083	N	0.001462	T	0.00109	0.0003	N	0.14661	0.345	0.35573	D	0.805663	P	0.37370	0.592	B	0.18871	0.023	D	0.88826	0.3302	10	0.87932	D	0	.	18.291	0.90130	0.0:1.0:0.0:0.0	.	244	Q8NGF1	O52R1_HUMAN	H	244;323	ENSP00000348368:R244H;ENSP00000369742:R323H	ENSP00000348368:R244H	R	-	2	0	OR52R1	4781456	1.000000	0.71417	0.994000	0.49952	0.888000	0.51559	5.822000	0.69265	2.902000	0.99343	0.650000	0.86243	CGT		0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		T	4824880	C	T	4824880	3	4	183	1	0	0	0	0	1	0	0	0	11131	536	19	1	219	1	OR52R1	11	4824880	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09		4824880	130181636	61	10408											
KCNA4	3739	genome.wustl.edu	37	11	30033813	30033813	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr11:30033813C>T	ENST00000328224.6	-	2	1646	c.413G>A	c.(412-414)gGa>gAa	p.G138E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	138					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTAAAACCTTCcctcctcttc	0.552																																																0			11											50	49	50					11																	30033813		2193	4294	6487	29990389	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.413G>A	11.37:g.30033813C>T	ENSP00000328511:p.Gly138Glu		29990389		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	4.149	0.026061	0.08054	.	.	ENSG00000182255	ENST00000328224	D	0.96554	-4.05	4.66	3.74	0.42951	.	1.055600	0.07635	U	0.929381	D	0.92189	0.7523	N	0.24115	0.695	0.40633	D	0.981874	B	0.02656	0.0	B	0.04013	0.001	D	0.84270	0.0488	10	0.44086	T	0.13	.	8.5109	0.33217	0.0:0.7631:0.1553:0.0816	.	138	P22459	KCNA4_HUMAN	E	138	ENSP00000328511:G138E	ENSP00000328511:G138E	G	-	2	0	KCNA4	29990389	0.765000	0.28485	0.294000	0.24946	0.513000	0.34164	1.288000	0.33296	0.942000	0.37525	0.561000	0.74099	GGA		0.552	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		T	30033813	C	T	30033813	3	4	183	1	0	0	0	0	1	0	0	0	8005	855	30	2	1552	2	KCNA4	11	30033813	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	25208933	30033813	104972703	62	10409											
POLA2	23649	genome.wustl.edu	37	11	65036162	65036162	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr11:65036162G>T	ENST00000265465.3	+	4	847	c.316G>T	c.(316-318)Gag>Tag	p.E106*	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	106	Poly-Glu.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GGAAGAAGAAGAGGAAATCCT	0.398																																																0			11											105	100	101					11																	65036162		2201	4297	6498	64792738	SO:0001587	stop_gained	23649			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.316G>T	11.37:g.65036162G>T	ENSP00000265465:p.Glu106*		64792738	B4DNB4|Q9BPV3	Nonsense_Mutation	SNP	ENST00000265465.3	37	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	G	36	5.845290	0.97016	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-27.3772	17.8657	0.88794	0.0:0.0:1.0:0.0	.	.	.	.	X	106;66	.	ENSP00000265465:E106X	E	+	1	0	POLA2	64792738	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	6.043000	0.71004	2.826000	0.97356	0.491000	0.48974	GAG		0.398	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		T	65036162	G	T	65036162	4	4	183	1	0	0	0	0	0	1	0	0	12188	943	33	3	330	3	POLA2	11	65036162	Nonsense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	35002349	65036162	69970354	63	10410											
ACTN3	8722	genome.wustl.edu	37	11	66330659	66330659	+	IGR	SNP	C	C	A	rs368116977		TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr11:66330659C>A	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGAGAGCGACCTTTGACCCCA	0.607																																																0			11											41	44	43					11																	66330659		1993	4160	6153	66087235	SO:0001628	intergenic_variant	89			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330659C>A			66087235	B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.607	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		A	66330659	C	A	66330659	1	1	183	0	1	0	0	0	0	0	0	0	206	681	24	3		3	ACTN3	11	66330659	IGR	SNP	C	TCGA-23-1114-01B-01W-0633-09	1294497	66330659	68675857	64	10411											
FAT3	120114	genome.wustl.edu	37	11	92533847	92533847	+	Silent	SNP	A	A	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr11:92533847A>G	ENST00000298047.6	+	9	7685	c.7668A>G	c.(7666-7668)gaA>gaG	p.E2556E	FAT3_ENST00000409404.2_Silent_p.E2556E|FAT3_ENST00000525166.1_Silent_p.E2406E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2556	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACCACAGAAAGGCTAGACC	0.488										TCGA Ovarian(4;0.039)																																						0			11											50	49	50					11																	92533847		1986	4160	6146	92173495	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7668A>G	11.37:g.92533847A>G			92173495	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92533847	A	G	92533847	2	3	183	1	0	0	0	0	0	0	0	1	5691	11	1	4		4	FAT3	11	92533847	Silent	SNP	A	TCGA-23-1114-01B-01W-0633-09	26203188	92533847	42472669	65	10412											
GUCY1A2	2977	genome.wustl.edu	37	11	106810882	106810882	+	Silent	SNP	T	T	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr11:106810882T>C	ENST00000526355.2	-	4	978	c.510A>G	c.(508-510)caA>caG	p.Q170Q	GUCY1A2_ENST00000347596.2_Silent_p.Q170Q|GUCY1A2_ENST00000282249.2_Silent_p.Q170Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	170					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CAAATCTTTTTTGAATTTCCT	0.333																																																0			11											36	41	39					11																	106810882		2147	4284	6431	106316092	SO:0001819	synonymous_variant	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.510A>G	11.37:g.106810882T>C			106316092	A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	CCDS8335.1																																																																																				0.333	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			C	106810882	T	C	106810882	2	2	183	1	0	0	0	0	0	0	0	1	6893	1838	64	4		4	GUCY1A2	11	106810882	Silent	SNP	T	TCGA-23-1114-01B-01W-0633-09	14277035	106810882	28195634	66	10413											
ARHGAP20	57569	genome.wustl.edu	37	11	110450156	110450156	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr11:110450156G>T	ENST00000260283.4	-	16	3798	c.3514C>A	c.(3514-3516)Cca>Aca	p.P1172T	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P1146T|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P1136T|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P1149T|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P1136T|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.P715T|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P1146T	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1172					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTGAGTCTGGGCTGGTCGCA	0.493																																																0			11											123	127	126					11																	110450156		2201	4298	6499	109955366	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3514C>A	11.37:g.110450156G>T	ENSP00000260283:p.Pro1172Thr		109955366	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	8.394	0.840331	0.16891	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.08896	3.04;3.04;3.08;3.04;3.05;3.04;3.05	5.62	2.72	0.32119	.	0.254272	0.28307	N	0.015839	T	0.06188	0.0160	L	0.36672	1.1	0.28635	N	0.907441	P;B;B	0.36683	0.565;0.113;0.18	B;B;B	0.33254	0.16;0.071;0.15	T	0.21759	-1.0236	10	0.45353	T	0.12	.	6.4424	0.21856	0.1553:0.0:0.6988:0.1459	.	1146;1172;1149	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	T	1172;1146;715;1149;1136;1146;1136	ENSP00000260283:P1172T;ENSP00000349660:P1146T;ENSP00000437905:P715T;ENSP00000432076:P1149T;ENSP00000436319:P1136T;ENSP00000436522:P1146T;ENSP00000431399:P1136T	ENSP00000260283:P1172T	P	-	1	0	ARHGAP20	109955366	0.958000	0.32768	0.959000	0.39883	0.115000	0.19883	0.494000	0.22467	0.300000	0.22699	0.655000	0.94253	CCA		0.493	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		T	110450156	G	T	110450156	3	4	183	1	0	0	0	0	1	0	0	0	870	1232	43	3	65	3	ARHGAP20	11	110450156	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	3639274	110450156	24556360	67	10414											
MLL	4297	genome.wustl.edu	37	11	118342400	118342400	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr11:118342400C>A	ENST00000389506.5	+	3	526	c.526C>A	c.(526-528)Cgt>Agt	p.R176S	KMT2A_ENST00000534358.1_Missense_Mutation_p.R176S|KMT2A_ENST00000354520.4_Missense_Mutation_p.R176S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	176					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCGAAAACCTCGTGGGAGACC	0.368																																																0			11											51	53	52					11																	118342400		2200	4296	6496	117847610	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.526C>A	11.37:g.118342400C>A	ENSP00000374157:p.Arg176Ser		117847610	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144835	0.57044	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000328469	D;T;D;D	0.90444	-2.65;1.53;-2.65;-2.67	5.92	5.01	0.66863	AT hook, DNA-binding motif (1);	0.117709	0.56097	N	0.000028	D	0.86045	0.5839	L	0.32530	0.975	0.58432	D	0.999994	B;B;B	0.21753	0.06;0.06;0.013	B;B;B	0.15484	0.013;0.013;0.006	T	0.83062	-0.0147	10	0.87932	D	0	.	14.9691	0.71220	0.0:0.9316:0.0:0.0683	.	176;176;209	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	S	176;209;176;176;209	ENSP00000436786:R176S;ENSP00000432391:R209S;ENSP00000374157:R176S;ENSP00000346516:R176S	ENSP00000333556:R209S	R	+	1	0	MLL	117847610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	1.495000	0.48549	0.650000	0.86243	CGT		0.368	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		A	118342400	C	A	118342400	3	1	183	1	0	0	0	0	1	0	0	0	9620	884	31	3	536	3	MLL	11	118342400	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	7892244	118342400	16664116	68	10415											
RPUSD4	84881	genome.wustl.edu	37	11	126073350	126073350	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr11:126073350T>A	ENST00000298317.4	-	7	1150	c.1097A>T	c.(1096-1098)aAt>aTt	p.N366I	RPUSD4_ENST00000534393.1_5'Flank|RPUSD4_ENST00000533628.1_Missense_Mutation_p.N335I	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	366					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTGTTCTCATTTTGATCCTC	0.542																																																0			11											153	147	149					11																	126073350		2201	4299	6500	125578560	SO:0001583	missense	84881			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.1097A>T	11.37:g.126073350T>A	ENSP00000298317:p.Asn366Ile		125578560	E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489305	0.44249	.	.	ENSG00000165526	ENST00000298317;ENST00000533628	T;T	0.13538	2.74;2.58	5.23	-9.03	0.00737	Pseudouridine synthase, catalytic domain (1);	1.575620	0.03532	N	0.222647	T	0.08223	0.0205	L	0.51422	1.61	0.09310	N	1	P;P	0.34780	0.468;0.468	B;B	0.27500	0.08;0.08	T	0.18555	-1.0333	10	0.16896	T	0.51	-16.2212	3.8662	0.09018	0.107:0.4222:0.2351:0.2357	.	335;366	E9PML2;Q96CM3	.;RUSD4_HUMAN	I	366;335	ENSP00000298317:N366I;ENSP00000433065:N335I	ENSP00000298317:N366I	N	-	2	0	RPUSD4	125578560	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-1.335000	0.02662	-1.690000	0.01432	-0.400000	0.06385	AAT		0.542	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		A	126073350	T	A	126073350	3	1	183	1	0	0	0	0	1	0	0	0	13672	1493	52	5	40	5	RPUSD4	11	126073350	Missense_Mutation	SNP	T	TCGA-23-1114-01B-01W-0633-09	7730950	126073350	8933166	69	10416											
PEX5	5830	genome.wustl.edu	37	12	7361146	7361146	+	Silent	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr12:7361146C>T	ENST00000455147.2	+	14	1855	c.1275C>T	c.(1273-1275)acC>acT	p.T425T	PEX5_ENST00000266564.3_Silent_p.T417T|PEX5_ENST00000266563.5_Silent_p.T388T|PEX5_ENST00000434354.2_Silent_p.T440T|PEX5_ENST00000420616.2_Silent_p.T425T|PEX5_ENST00000412720.2_Silent_p.T446T	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	425				T -> I (in Ref. 1; AAC50103). {ECO:0000305}.	cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CCTGTGAAACCCTACGAGACT	0.597																																																0			12											66	60	62					12																	7361146		2203	4300	6503	7252413	SO:0001819	synonymous_variant	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1275C>T	12.37:g.7361146C>T			7252413	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	CCDS44823.1																																																																																				0.597	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		T	7361146	C	T	7361146	2	4	183	1	0	0	0	0	0	0	0	1	11748	610	22	2		2	PEX5	12	7361146	Silent	SNP	C	TCGA-23-1114-01B-01W-0633-09		7361146	126490749	70	10417											
DPPA3	359787	genome.wustl.edu	37	12	7869651	7869651	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr12:7869651A>G	ENST00000345088.2	+	4	575	c.458A>G	c.(457-459)gAc>gGc	p.D153G		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	153					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GGGAATCAAGACACCAAGCCA	0.378																																																0			12											80	82	81					12																	7869651		2203	4300	6503	7760918	SO:0001583	missense	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.458A>G	12.37:g.7869651A>G	ENSP00000339250:p.Asp153Gly		7760918	Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	A	6.746	0.506496	0.12883	.	.	ENSG00000187569	ENST00000345088	T	0.46063	0.88	2.45	-1.4	0.08968	.	.	.	.	.	T	0.24509	0.0594	N	0.24115	0.695	0.09310	N	1	B	0.27910	0.193	B	0.30646	0.118	T	0.24440	-1.0160	9	0.46703	T	0.11	.	2.9208	0.05768	0.4583:0.2443:0.2974:0.0	.	153	Q6W0C5	DPPA3_HUMAN	G	153	ENSP00000339250:D153G	ENSP00000339250:D153G	D	+	2	0	DPPA3	7760918	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.401000	0.20948	-0.321000	0.08627	-0.464000	0.05259	GAC		0.378	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		G	7869651	A	G	7869651	3	3	183	1	0	0	0	0	1	0	0	0	4735	275	10	4	472	4	DPPA3	12	7869651	Missense_Mutation	SNP	A	TCGA-23-1114-01B-01W-0633-09	508505	7869651	125982244	71	10418											
EPS8	2059	genome.wustl.edu	37	12	15811014	15811014	+	Splice_Site	SNP	A	A	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr12:15811014A>T	ENST00000281172.5	-	12	1536	c.1100T>A	c.(1099-1101)aTg>aAg	p.M367K	EPS8_ENST00000542903.1_Splice_Site_p.M107K|EPS8_ENST00000543612.1_Splice_Site_p.M367K|EPS8_ENST00000543523.1_Splice_Site_p.M367K|EPS8_ENST00000540613.1_Splice_Site_p.M107K	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	367					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AAATCTCACCATATTTAATGG	0.343																																																0			12											59	60	60					12																	15811014		2203	4300	6503	15702281	SO:0001630	splice_region_variant	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1101+1T>A	12.37:g.15811014A>T			15702281	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720504	0.68959	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.0	5.0	0.66597	.	0.040549	0.85682	D	0.000000	T	0.23727	0.0574	L	0.49640	1.575	0.58432	D	0.999999	B	0.33120	0.398	B	0.34489	0.184	T	0.05194	-1.0900	10	0.87932	D	0	-24.5893	14.8694	0.70444	1.0:0.0:0.0:0.0	.	367	Q12929	EPS8_HUMAN	K	367;367;367;107;107;367	ENSP00000441867:M367K;ENSP00000281172:M367K;ENSP00000442388:M367K;ENSP00000441888:M107K;ENSP00000437806:M107K	ENSP00000281172:M367K	M	-	2	0	EPS8	15702281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.271000	0.89883	2.108000	0.64289	0.477000	0.44152	ATG		0.343	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		Missense_Mutation	T	15811014	A	T	15811014	5	4	183	1	0	0	0	0	0	0	1	0	5194	231	8	5	1408	5	EPS8	12	15811014	Splice_Site	SNP	A	TCGA-23-1114-01B-01W-0633-09	7941363	15811014	118040881	72	10419											
YARS2	51067	genome.wustl.edu	37	12	32908075	32908075	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr12:32908075G>C	ENST00000324868.8	-	1	761	c.734C>G	c.(733-735)tCt>tGt	p.S245C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	245					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TAGTTGATCAGATCCGCCCAG	0.478											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			12											146	156	153					12																	32908075		2203	4300	6503	32799342	SO:0001583	missense	51067			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.734C>G	12.37:g.32908075G>C	ENSP00000320658:p.Ser245Cys	836	32799342	D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210812	0.79240	.	.	ENSG00000139131	ENST00000324868	T	0.55413	0.52	5.86	4.92	0.64577	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.133751	0.51477	D	0.000083	T	0.76709	0.4025	H	0.94771	3.58	0.44570	D	0.997535	D	0.69078	0.997	P	0.60789	0.879	T	0.83003	-0.0176	10	0.87932	D	0	-11.8828	13.6561	0.62339	0.0:0.0:0.7398:0.2602	.	245	Q9Y2Z4	SYYM_HUMAN	C	245	ENSP00000320658:S245C	ENSP00000320658:S245C	S	-	2	0	YARS2	32799342	1.000000	0.71417	0.193000	0.23327	0.932000	0.56968	4.303000	0.59098	2.784000	0.95788	0.644000	0.83932	TCT		0.478	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		C	32908075	G	C	32908075	3	2	183	1	0	0	0	0	1	0	0	0	17468	942	33	3	719	3	YARS2	12	32908075	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	17097061	32908075	100943820	73	10420											
FAM186B	84070	genome.wustl.edu	37	12	49994080	49994080	+	Frame_Shift_Del	DEL	A	A	-			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr12:49994080delA	ENST00000257894.2	-	4	1504	c.1343delT	c.(1342-1344)ttcfs	p.F448fs	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Frame_Shift_Del_p.F358fs	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	448						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCCTTCTGGAAGTAGTCCTC	0.517																																																0			12											92	83	86					12																	49994080		2203	4300	6503	48280347	SO:0001589	frameshift_variant	84070			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1343delT	12.37:g.49994080delA	ENSP00000257894:p.Phe448fs		48280347	B4DZ15|Q8TCP7|Q9H0L3	Frame_Shift_Del	DEL	ENST00000257894.2	37	CCDS8788.1																																																																																				0.517	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		-	49994080	A	-	49994080	7	5	183	1	0	1	0	1	0	0	0	0	5512	246	9	0	1354	0	FAM186B	12	49994080	Frame_Shift_Del	DEL	A	TCGA-23-1114-01B-01W-0633-09	17086005	49994080	83857815	74	10421											
KNTC1	9735	genome.wustl.edu	37	12	123014649	123014649	+	Silent	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr12:123014649C>T	ENST00000333479.7	+	2	216	c.39C>T	c.(37-39)acC>acT	p.T13T	KNTC1_ENST00000450485.2_Silent_p.T13T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	13					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATGATGATACCGGAAGTGGGT	0.388																																																0			12											103	107	106					12																	123014649		1883	4112	5995	121580602	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.39C>T	12.37:g.123014649C>T			121580602	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																				0.388	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			T	123014649	C	T	123014649	2	4	183	1	0	0	0	0	0	0	0	1	8428	639	23	1		1	KNTC1	12	123014649	Silent	SNP	C	TCGA-23-1114-01B-01W-0633-09	73020569	123014649	10837246	75	10422											
OR4K14	122740	genome.wustl.edu	37	14	20483062	20483062	+	Silent	SNP	T	T	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr14:20483062T>C	ENST00000305045.2	-	1	290	c.291A>G	c.(289-291)ggA>ggG	p.G97G		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GAGCCATACATCCTCCAAAGG	0.483																																																0			14											107	100	102					14																	20483062		2203	4300	6503	19552902	SO:0001819	synonymous_variant	122740				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.291A>G	14.37:g.20483062T>C			19552902	Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	CCDS32027.1																																																																																				0.483	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			C	20483062	T	C	20483062	2	2	183	1	0	0	0	0	0	0	0	1	11069	1422	50	4		4	OR4K14	14	20483062	Silent	SNP	T	TCGA-23-1114-01B-01W-0633-09		20483062	86866478	76	10423											
TXNDC16	57544	genome.wustl.edu	37	14	52955151	52955152	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	AT	AT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr14:52955151_52955152delAT	ENST00000281741.4	-	12	1408_1409	c.1037_1038delAT	c.(1036-1038)catfs	p.H346fs	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	346					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TATTTTCCACATGAGATATTAT	0.312																																																0			14																																								52024902	SO:0001589	frameshift_variant	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1037_1038delAT	14.37:g.52955151_52955152delAT	ENSP00000281741:p.His346fs		52024901	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Frame_Shift_Del	DEL	ENST00000281741.4	37	CCDS32083.1																																																																																				0.312	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		-	52955152	AT	-	52955151	7	5	183	1	0	1	0	1	0	0	0	0	16795	214	8	0	1479	0	TXNDC16	14	52955151	Frame_Shift_Del	DEL	AT	TCGA-23-1114-01B-01W-0633-09	32472089	52955151	54394389	77	10424											
KCNK13	56659	genome.wustl.edu	37	14	90650588	90650588	+	Silent	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr14:90650588C>T	ENST00000282146.4	+	2	909	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	156					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCGCCTACATCATGAAGTCGT	0.582																																																0			14											90	93	92					14																	90650588		2203	4300	6503	89720341	SO:0001819	synonymous_variant	56659			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.468C>T	14.37:g.90650588C>T			89720341	B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	CCDS9889.1																																																																																				0.582	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		T	90650588	C	T	90650588	2	4	183	1	0	0	0	0	0	0	0	1	8061	816	29	2		2	KCNK13	14	90650588	Silent	SNP	C	TCGA-23-1114-01B-01W-0633-09	37695437	90650588	16698952	78	10425											
OR4M2	390538	genome.wustl.edu	37	15	22369419	22369419	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr15:22369419C>T	ENST00000332663.2	+	1	942	c.844C>T	c.(844-846)Cct>Tct	p.P282S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTAATATTCCCTTTACGTAA	0.378																																																0			15											184	142	157					15																	22369419		2203	4300	6503	19870783	SO:0001583	missense	390538			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.844C>T	15.37:g.22369419C>T	ENSP00000329467:p.Pro282Ser		19870783	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.611515	0.46631	.	.	ENSG00000182974	ENST00000332663	T	0.00330	8.08	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000149	T	0.00967	0.0032	M	0.92738	3.34	0.36867	D	0.88872	D	0.89917	1.0	D	0.97110	1.0	T	0.55075	-0.8197	10	0.87932	D	0	-12.8675	10.3191	0.43756	0.0:1.0:0.0:0.0	.	282	Q8NGB6	OR4M2_HUMAN	S	282	ENSP00000329467:P282S	ENSP00000329467:P282S	P	+	1	0	OR4M2	19870783	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.243000	0.65395	1.297000	0.44761	0.448000	0.29417	CCT		0.378	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			T	22369419	C	T	22369419	3	4	183	1	0	0	0	0	1	0	0	0	11076	623	22	2	846	2	OR4M2	15	22369419	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09		22369419	80161973	79	10426											
CHST14	113189	genome.wustl.edu	37	15	40764103	40764103	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr15:40764103C>G	ENST00000306243.5	+	1	944	c.691C>G	c.(691-693)Cga>Gga	p.R231G	CHST14_ENST00000559991.1_Missense_Mutation_p.R206G	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	231					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		TGGCGAGATCCGAGAGTACCA	0.597																																																0			15											84	93	90					15																	40764103		2203	4300	6503	38551395	SO:0001583	missense	113189			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"Sulfotransferases, membrane-bound"	24464	protein-coding gene	gene with protein product		608429	"dermatan 4 sulfotransferase 1"	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.691C>G	15.37:g.40764103C>G	ENSP00000307297:p.Arg231Gly		38551395	Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317256	0.40996	.	.	ENSG00000169105	ENST00000306243	T	0.73681	-0.77	5.01	2.95	0.34219	.	0.401882	0.23718	N	0.045256	T	0.55625	0.1932	N	0.16656	0.425	0.38037	D	0.93533	B	0.13145	0.007	B	0.14578	0.011	T	0.52823	-0.8524	10	0.26408	T	0.33	-17.6039	10.3066	0.43685	0.4841:0.5159:0.0:0.0	.	231	Q8NCH0	CHSTE_HUMAN	G	231	ENSP00000307297:R231G	ENSP00000307297:R231G	R	+	1	2	CHST14	38551395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.317000	0.33631	1.320000	0.45209	0.655000	0.94253	CGA		0.597	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		G	40764103	C	G	40764103	3	3	183	1	0	0	0	0	1	0	0	0	3402	644	23	3	693	3	CHST14	15	40764103	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	18394684	40764103	61767289	80	10427											
EPB42	2038	genome.wustl.edu	37	15	43507498	43507498	+	Silent	SNP	G	G	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr15:43507498G>T	ENST00000441366.2	-	3	450	c.225C>A	c.(223-225)acC>acA	p.T75T	EPB42_ENST00000300215.3_Silent_p.T105T|EPB42_ENST00000540029.1_Intron	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	75					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATGTGGCTTGGGTCCTGTTGA	0.527																																																0			15											138	111	120					15																	43507498		2203	4299	6502	41294790	SO:0001819	synonymous_variant	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.225C>A	15.37:g.43507498G>T			41294790	Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	CCDS45249.1																																																																																				0.527	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		T	43507498	G	T	43507498	2	4	183	1	0	0	0	0	0	0	0	1	5158	1219	43	3		3	EPB42	15	43507498	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09	2743395	43507498	59023894	81	10428											
TRAP1	10131	genome.wustl.edu	37	16	3713464	3713464	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr16:3713464C>T	ENST00000246957.5	-	14	1757	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	DNASE1_ENST00000414110.2_Intron|DNASE1_ENST00000575152.1_3'UTR|TRAP1_ENST00000573872.1_5'Flank|TRAP1_ENST00000538171.1_Missense_Mutation_p.D504N|TRAP1_ENST00000575671.1_Missense_Mutation_p.D348N	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	557					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TTGTAGTGATCCACGACTATG	0.562																																																0			16											142	128	133					16																	3713464		2197	4300	6497	3653465	SO:0001583	missense	10131			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1669G>A	16.37:g.3713464C>T	ENSP00000246957:p.Asp557Asn		3653465	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146000	0.57044	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.10477	2.87;2.87	5.83	5.83	0.93111	.	0.208986	0.49305	D	0.000156	T	0.13543	0.0328	L	0.41710	1.295	0.80722	D	1	B;B	0.24043	0.078;0.096	B;B	0.26094	0.039;0.066	T	0.03630	-1.1018	10	0.46703	T	0.11	-32.1787	19.112	0.93319	0.0:1.0:0.0:0.0	.	504;557	F5H897;Q12931	.;TRAP1_HUMAN	N	557;504	ENSP00000246957:D557N;ENSP00000442070:D504N	ENSP00000246957:D557N	D	-	1	0	TRAP1	3653465	1.000000	0.71417	0.868000	0.34077	0.295000	0.27426	7.424000	0.80242	2.764000	0.94973	0.557000	0.71058	GAT		0.562	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		T	3713464	C	T	3713464	3	4	183	1	0	0	0	0	1	0	0	0	16455	855	30	2	465	2	TRAP1	16	3713464	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09		3713464	86641289	82	10429											
ADCY9	115	genome.wustl.edu	37	16	4015998	4015998	+	Silent	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr16:4015998G>A	ENST00000294016.3	-	11	4378	c.3840C>T	c.(3838-3840)aaC>aaT	p.N1280N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1280					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AAGGCACCAGGTTGGCAATCT	0.597																																																0			16											109	93	99					16																	4015998		2197	4300	6497	3955999	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3840C>T	16.37:g.4015998G>A			3955999	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																				0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4015998	G	A	4015998	2	1	183	1	0	0	0	0	0	0	0	1	301	1252	44	2		2	ADCY9	16	4015998	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09	302534	4015998	86338755	83	10430											
TP53	7157	genome.wustl.edu	37	17	7577017	7577017	+	Splice_Site	SNP	A	A	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr17:7577017A>C	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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						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.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(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)	CTGCTTGCTTACCTCGCTTAG	0.557		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"	16	Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(2)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|stomach(1)|urinary_tract(1)|ovary(1)	17											128	112	117					17																	7577017		2203	4300	6503	7517742	SO:0001630	splice_region_variant	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.919+1T>G	17.37:g.7577017A>C			7517742	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	8.950	0.968007	0.18659	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7248	0.28753	0.8139:0.0:0.0:0.1861	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517742	1.000000	0.71417	0.780000	0.31762	0.217000	0.24651	7.280000	0.78610	0.855000	0.35359	0.459000	0.35465	.		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7577017	A	C	7577017	5	2	183	1	0	0	0	0	0	0	1	0	16381	405	14	5	365	5	TP53	17	7577017	Splice_Site	SNP	A	TCGA-23-1114-01B-01W-0633-09		7577017	73618193	84	10431											
NAGLU	4669	genome.wustl.edu	37	17	40693191	40693191	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr17:40693191G>A	ENST00000225927.2	+	5	1089	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	330					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTTGCCGCAGCCACCACTGC	0.577																																																0			17											70	62	64					17																	40693191		2203	4300	6503	37946717	SO:0001583	missense	4669				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.988G>A	17.37:g.40693191G>A	ENSP00000225927:p.Ala330Thr		37946717		Missense_Mutation	SNP	ENST00000225927.2	37	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	7.692	0.691259	0.15039	.	.	ENSG00000108784	ENST00000225927	D	0.98207	-4.79	5.07	1.95	0.26073	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.516889	0.21799	N	0.068943	D	0.93861	0.8036	N	0.17764	0.52	0.21762	N	0.999556	B	0.19073	0.033	B	0.21708	0.036	D	0.86473	0.1786	10	0.23302	T	0.38	-14.0686	9.5673	0.39407	0.2341:0.0:0.7659:0.0	.	330	P54802	ANAG_HUMAN	T	330	ENSP00000225927:A330T	ENSP00000225927:A330T	A	+	1	0	NAGLU	37946717	0.992000	0.36948	0.342000	0.25602	0.080000	0.17528	2.141000	0.42168	0.732000	0.32470	0.561000	0.74099	GCC		0.577	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		A	40693191	G	A	40693191	3	1	183	1	0	0	0	0	1	0	0	0	10143	971	34	2	1006	2	NAGLU	17	40693191	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	33116174	40693191	40502019	85	10432											
BCAS3	54828	genome.wustl.edu	37	17	59093135	59093135	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr17:59093135T>C	ENST00000390652.5	+	16	1541	c.1510T>C	c.(1510-1512)Tat>Cat	p.Y504H	BCAS3_ENST00000585744.1_Missense_Mutation_p.Y275H|BCAS3_ENST00000408905.3_Missense_Mutation_p.Y504H|BCAS3_ENST00000588462.1_Missense_Mutation_p.Y504H|BCAS3_ENST00000407086.3_Missense_Mutation_p.Y504H|BCAS3_ENST00000589222.1_Missense_Mutation_p.Y504H|BCAS3_ENST00000588874.1_Missense_Mutation_p.Y275H	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCAAGACTCCTATAACAATTT	0.448																																																0			17											201	183	189					17																	59093135		1878	4108	5986	56447917	SO:0001583	missense	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1510T>C	17.37:g.59093135T>C	ENSP00000375067:p.Tyr504His		56447917		Missense_Mutation	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269196	0.80469	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.32988	1.43;1.48;1.48	5.59	5.59	0.84812	.	0.065742	0.64402	D	0.000006	T	0.37758	0.1015	L	0.29908	0.895	0.50039	D	0.999841	D;P;B;D;D;D	0.58620	0.971;0.936;0.029;0.983;0.971;0.983	P;P;B;P;P;P	0.56700	0.641;0.568;0.009;0.804;0.641;0.804	T	0.06991	-1.0796	10	0.33940	T	0.23	.	15.774	0.78193	0.0:0.0:0.0:1.0	.	295;504;504;504;504;504	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;BCAS3_HUMAN;.	H	504;504;504;504;296	ENSP00000375067:Y504H;ENSP00000385323:Y504H;ENSP00000386173:Y504H	ENSP00000353336:Y296H	Y	+	1	0	BCAS3	56447917	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.499000	0.81566	2.124000	0.65301	0.533000	0.62120	TAT		0.448	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		C	59093135	T	C	59093135	3	2	183	1	0	0	0	0	1	0	0	0	1352	1522	53	4	1568	4	BCAS3	17	59093135	Missense_Mutation	SNP	T	TCGA-23-1114-01B-01W-0633-09	18399944	59093135	22102075	86	10433											
FTSJ3	5705	genome.wustl.edu	37	17	61904239	61904239	+	5'Flank	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr17:61904239G>C	ENST00000310144.6	+	0	0				PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_Silent_p.G8G	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GTCGGCTCTTGCCAACTTTGC	0.562																																																0			17											95	90	92					17																	61904239		2203	4300	6503	59257971	SO:0001631	upstream_gene_variant	117246			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61904239G>C	Exception_encountered		59257971	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	CCDS11645.1																																																																																				0.562	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		C	61904239	G	C	61904239	1	2	183	0	1	0	0	0	0	0	0	0	6089	1306	46	3		3	FTSJ3	17	61904239	5'Flank	SNP	G	TCGA-23-1114-01B-01W-0633-09	2811104	61904239	19290971	87	10434											
BAHCC1	57597	genome.wustl.edu	37	17	79425877	79425877	+	Silent	SNP	C	C	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr17:79425877C>T	ENST00000307745.7	+	24	5487	c.5487C>T	c.(5485-5487)ttC>ttT	p.F1829F	RP11-1055B8.8_ENST00000572590.1_RNA																							TGGAAAGCTTCGCCGTGGAGG	0.662																																																0			17											18	23	21					17																	79425877		2107	4218	6325	77040472	SO:0001819	synonymous_variant	57597																														ENST00000307745.7:c.5487C>T	17.37:g.79425877C>T			77040472		Silent	SNP	ENST00000307745.7	37																																																																																					0.662	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	79425877	C	T	79425877	2	4	183	1	0	0	0	0	0	0	0	1	1296	883	31	1		1	BAHCC1	17	79425877	Silent	SNP	C	TCGA-23-1114-01B-01W-0633-09	17521638	79425877	1769333	88	10435											
NPC1	4864	genome.wustl.edu	37	18	21121119	21121119	+	Silent	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr18:21121119G>A	ENST00000269228.5	-	16	2981	c.2427C>T	c.(2425-2427)agC>agT	p.S809S	NPC1_ENST00000412552.2_Silent_p.S491S|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	809					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGCCTGGACGCTTGTTCCAT	0.473																																																0			18											109	106	107					18																	21121119		2203	4300	6503	19375117	SO:0001819	synonymous_variant	4864			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2427C>T	18.37:g.21121119G>A			19375117	B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	CCDS11878.1																																																																																				0.473	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		A	21121119	G	A	21121119	2	1	183	1	0	0	0	0	0	0	0	1	10570	1078	38	1		1	NPC1	18	21121119	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09		21121119	56956129	89	10436											
OR10H1	26539	genome.wustl.edu	37	19	15918749	15918749	+	Silent	SNP	C	C	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr19:15918749C>A	ENST00000334920.2	-	1	187	c.99G>T	c.(97-99)ctG>ctT	p.L33L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACAGGTACATCAGCAGGAACA	0.592																																																0			19											150	134	140					19																	15918749		2203	4298	6501	15779749	SO:0001819	synonymous_variant	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.99G>T	19.37:g.15918749C>A			15779749	Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	CCDS12335.1																																																																																				0.592	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			A	15918749	C	A	15918749	2	1	183	1	0	0	0	0	0	0	0	1	10905	813	29	3		3	OR10H1	19	15918749	Silent	SNP	C	TCGA-23-1114-01B-01W-0633-09		15918749	43210234	90	10437											
MAG	4099	genome.wustl.edu	37	19	35800951	35800951	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr19:35800951T>C	ENST00000392213.3	+	8	1565	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.V444A|MAG_ENST00000361922.4_Missense_Mutation_p.V469A	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	469	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGCGGCCTCGTGCTCACCAGC	0.687																																																0			19											57	51	53					19																	35800951		2203	4300	6503	40492791	SO:0001583	missense	27307			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1406T>C	19.37:g.35800951T>C	ENSP00000376048:p.Val469Ala		40492791	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108330	0.37242	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13657	2.57;2.57;2.57	4.8	4.8	0.61643	.	0.513575	0.19972	N	0.101963	T	0.08268	0.0206	N	0.14661	0.345	0.23459	N	0.997636	B;B;B	0.13145	0.007;0.003;0.002	B;B;B	0.13407	0.004;0.009;0.006	T	0.31138	-0.9954	10	0.15499	T	0.54	.	12.3376	0.55075	0.0:0.0:0.0:1.0	.	506;469;469	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	A	506;469;469;444	ENSP00000355234:V469A;ENSP00000376048:V469A;ENSP00000440695:V444A	ENSP00000262624:V506A	V	+	2	0	MAG	40492791	0.961000	0.32948	1.000000	0.80357	0.904000	0.53231	1.827000	0.39102	2.020000	0.59435	0.379000	0.24179	GTG		0.687	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		C	35800951	T	C	35800951	3	2	183	1	0	0	0	0	1	0	0	0	9162	1696	59	4	1428	4	MAG	19	35800951	Missense_Mutation	SNP	T	TCGA-23-1114-01B-01W-0633-09	19882202	35800951	23328032	91	10438											
ZNF224	7767	genome.wustl.edu	37	19	44611121	44611121	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr19:44611121A>C	ENST00000336976.6	+	6	1062	c.808A>C	c.(808-810)Att>Ctt	p.I270L	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	270					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAAGGCCTTCATTCACGATTC	0.423																																																0			19											134	138	137					19																	44611121		2203	4300	6503	49302961	SO:0001583	missense	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.808A>C	19.37:g.44611121A>C	ENSP00000337368:p.Ile270Leu		49302961	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	a	9.484	1.098927	0.20552	.	.	ENSG00000186019	ENST00000336976	T	0.07114	3.22	3.44	-1.93	0.07594	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.17379	0.485	0.09310	N	1	P	0.42456	0.78	P	0.45232	0.474	T	0.25467	-1.0131	9	0.39692	T	0.17	.	2.046	0.03561	0.2451:0.1355:0.094:0.5253	.	270	Q9NZL3	ZN224_HUMAN	L	270	ENSP00000337368:I270L	ENSP00000337368:I270L	I	+	1	0	ZNF224	49302961	0.000000	0.05858	0.001000	0.08648	0.314000	0.28054	0.447000	0.21710	-0.675000	0.05246	0.482000	0.46254	ATT		0.423	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		C	44611121	A	C	44611121	3	2	183	1	0	0	0	0	1	0	0	0	17778	217	8	5	822	5	ZNF224	19	44611121	Missense_Mutation	SNP	A	TCGA-23-1114-01B-01W-0633-09	8810170	44611121	14517862	92	10439											
FBXO46	23403	genome.wustl.edu	37	19	46216180	46216180	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr19:46216180G>C	ENST00000317683.3	-	2	707	c.574C>G	c.(574-576)Cga>Gga	p.R192G		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	192										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTGGTCGGTCGTGGGTAGCTC	0.697																																																0			19											12	15	14					19																	46216180		2002	4147	6149	50908020	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.574C>G	19.37:g.46216180G>C	ENSP00000410007:p.Arg192Gly		50908020		Missense_Mutation	SNP	ENST00000317683.3	37	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195459	0.09599	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	P	0.38300	0.626	B	0.30572	0.117	T	0.09378	-1.0677	8	0.72032	D	0.01	-19.276	11.743	0.51804	0.0:0.0:1.0:0.0	.	192	Q6PJ61	FBX46_HUMAN	G	192	.	ENSP00000410007:R192G	R	-	1	2	FBXO46	50908020	0.001000	0.12720	0.334000	0.25495	0.092000	0.18411	0.654000	0.24918	2.136000	0.66102	0.462000	0.41574	CGA		0.697	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		C	46216180	G	C	46216180	3	2	183	1	0	0	0	0	1	0	0	0	5755	1153	40	3	1241	3	FBXO46	19	46216180	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	1605059	46216180	12912803	93	10440											
TRPM4	54795	genome.wustl.edu	37	19	49674985	49674985	+	Missense_Mutation	SNP	C	C	T	rs368950027		TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr19:49674985C>T	ENST00000252826.5	+	8	1135	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Missense_Mutation_p.R54C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R337C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	337					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCGAATCAGGCGTTTCTTTCC	0.642																																																0			19						C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	33	35	34		1009,1009	5.1	1	19		34	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	TRPM4	NM_001195227.1,NM_017636.3	180,180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	337/1070,337/1215	49674985	3,13003	2203	4300	6503	54366797	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1009C>T	19.37:g.49674985C>T	ENSP00000252826:p.Arg337Cys		54366797	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855153	0.71719	0.0	3.49E-4	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.61980	1.27;1.27;0.06	5.05	5.05	0.67936	.	0.501510	0.20472	N	0.091670	T	0.74854	0.3771	L	0.52573	1.65	0.37783	D	0.927092	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;P	0.76071	0.972;0.987;0.987;0.644	T	0.78996	-0.1983	10	0.87932	D	0	-9.783	16.2632	0.82562	0.0:1.0:0.0:0.0	.	54;163;337;337	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	337;337;54	ENSP00000252826:R337C;ENSP00000407492:R337C;ENSP00000347944:R54C	ENSP00000252826:R337C	R	+	1	0	TRPM4	54366797	0.990000	0.36364	0.963000	0.40424	0.715000	0.41141	3.913000	0.56394	2.529000	0.85273	0.591000	0.81541	CGT		0.642	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		T	49674985	C	T	49674985	3	4	183	1	0	0	0	0	1	0	0	0	16588	768	27	1	1039	1	TRPM4	19	49674985	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	3458805	49674985	9453998	94	10441											
SLC17A7	57030	genome.wustl.edu	37	19	49934399	49934399	+	Splice_Site	SNP	C	C	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr19:49934399C>A	ENST00000221485.3	-	11	1433	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V	SLC17A7_ENST00000600601.1_Splice_Site_p.G354V|SLC17A7_ENST00000543531.1_Splice_Site_p.G409V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	421					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CACGTTGAACCCTGGCGGAGA	0.617																																																0			19											78	65	69					19																	49934399		2203	4300	6503	54626211	SO:0001630	splice_region_variant	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1262-1G>T	19.37:g.49934399C>A			54626211	B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528208	0.85706	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.68331	-0.32;-0.32	4.38	4.38	0.52667	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000022	D	0.87321	0.6148	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.988	D	0.91349	0.5103	10	0.87932	D	0	.	14.8148	0.70024	0.0:1.0:0.0:0.0	.	421;263	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	V	421;409	ENSP00000221485:G421V;ENSP00000441767:G409V	ENSP00000221485:G421V	G	-	2	0	SLC17A7	54626211	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.368000	0.79567	2.462000	0.83206	0.484000	0.47621	GGG		0.617	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		Missense_Mutation	A	49934399	C	A	49934399	5	1	183	1	0	0	0	0	0	0	1	0	14425	637	22	3	428	3	SLC17A7	19	49934399	Splice_Site	SNP	C	TCGA-23-1114-01B-01W-0633-09	259414	49934399	9194584	95	10442											
SNRPB	6628	genome.wustl.edu	37	20	2448390	2448390	+	Silent	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr20:2448390G>A	ENST00000438552.2	-	2	180	c.18C>T	c.(16-18)agC>agT	p.S6S	SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000381342.2_Silent_p.S6S|RP4-734P14.4_ENST00000461548.1_Nonsense_Mutation_p.Q107*	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	6					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GCATCTTGCTGCTCTTGCCCA	0.522																																																0			20											120	103	109					20																	2448390		2203	4300	6503	2396390	SO:0001819	synonymous_variant	6628				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.18C>T	20.37:g.2448390G>A			2396390	Q15490|Q6IB35|Q9UIS5	Silent	SNP	ENST00000438552.2	37	CCDS13026.1																																																																																				0.522	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			A	2448390	G	A	2448390	2	1	183	1	0	0	0	0	0	0	0	1	14864	1310	46	2		2	SNRPB	20	2448390	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09		2448390	60577130	96	10443											
PYGB	5834	genome.wustl.edu	37	20	25277071	25277071	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr20:25277071delC	ENST00000216962.4	+	20	2555	c.2445delC	c.(2443-2445)gacfs	p.D815fs	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	815					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TCTCCAGTGACCGGACCATCA	0.607																																																0			20											104	81	89					20																	25277071		2203	4300	6503	25225071	SO:0001589	frameshift_variant	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2445delC	20.37:g.25277071delC	ENSP00000216962:p.Asp815fs		25225071	Q96AK1|Q9NPX8	Frame_Shift_Del	DEL	ENST00000216962.4	37	CCDS13171.1																																																																																				0.607	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		-	25277071	C	-	25277071	7	5	183	1	0	1	0	1	0	0	0	0	12863	506	18	0	2523	0	PYGB	20	25277071	Frame_Shift_Del	DEL	C	TCGA-23-1114-01B-01W-0633-09	22828681	25277071	37748449	97	10444											
JPH2	57158	genome.wustl.edu	37	20	42744587	42744587	+	Silent	SNP	G	G	C	rs74352869	byFrequency	TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr20:42744587G>C	ENST00000372980.3	-	4	2600	c.1728C>G	c.(1726-1728)ccC>ccG	p.P576P		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	576	Pro-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTGGGGGCTCGGGCGGCGTGG	0.746													G|||	766	0.152955	0.2345	0.1254	5008	,	,		10507	0.0804		0.2247	False		,,,				2504	0.0634															0			20						G		672,2910		75,522,1194	4	5	5		1728	1.3	0.9	20	dbSNP_131	5	1430,6150		154,1122,2514	no	coding-synonymous	JPH2	NM_020433.4		229,1644,3708	CC,CG,GG		18.8654,18.7605,18.8318		576/697	42744587	2102,9060	1791	3790	5581	42178001	SO:0001819	synonymous_variant	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1728C>G	20.37:g.42744587G>C			42178001	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																				0.746	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			C	42744587	G	C	42744587	2	2	183	1	0	0	0	0	0	0	0	1	7961	1103	39	3		3	JPH2	20	42744587	Silent	SNP	G	TCGA-23-1114-01B-01W-0633-09	17467516	42744587	20280933	98	10445											
CDH4	1002	genome.wustl.edu	37	20	60499506	60499506	+	Silent	SNP	C	C	T	rs559348748		TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chr20:60499506C>T	ENST00000360469.5	+	11	1831	c.1743C>T	c.(1741-1743)taC>taT	p.Y581Y	CDH4_ENST00000543233.1_Silent_p.Y507Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	581	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACAACGTCTACGAGGCCACCT	0.647													C|||	1	0.000199681	0	0	5008	,	,		16084	0		0	False		,,,				2504	0.001															0			20											124	94	104					20																	60499506		2203	4300	6503	59932901	SO:0001819	synonymous_variant	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1743C>T	20.37:g.60499506C>T			59932901	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																				0.647	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60499506	C	T	60499506	2	4	183	1	0	0	0	0	0	0	0	1	3112	547	19	1		1	CDH4	20	60499506	Silent	SNP	C	TCGA-23-1114-01B-01W-0633-09	17754919	60499506	2526014	99	10446											
WDR13	64743	genome.wustl.edu	37	X	48457119	48457119	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chrX:48457119G>A	ENST00000218056.5	+	2	561	c.56G>A	c.(55-57)cGc>cAc	p.R19H	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.R19H	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	19						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						AACGCGTACCGCACACCAACG	0.652																																																0			X											41	28	33					X																	48457119		2203	4299	6502	48342063	SO:0001583	missense	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.56G>A	X.37:g.48457119G>A	ENSP00000218056:p.Arg19His		48342063	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495996	0.64186	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	D;D	0.81739	-1.53;-1.53	4.53	4.53	0.55603	.	0.054916	0.85682	D	0.000000	T	0.77143	0.4087	L	0.60455	1.87	0.58432	D	0.999998	B	0.22683	0.073	B	0.17722	0.019	T	0.76526	-0.2927	10	0.59425	D	0.04	-14.9143	13.6403	0.62246	0.0:0.0:1.0:0.0	.	19	Q9H1Z4	WDR13_HUMAN	H	19	ENSP00000365919:R19H;ENSP00000218056:R19H	ENSP00000218056:R19H	R	+	2	0	WDR13	48342063	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.792000	0.91856	2.081000	0.62600	0.523000	0.50628	CGC		0.652	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			A	48457119	G	A	48457119	3	1	183	1	0	0	0	0	1	0	0	0	17275	1087	38	1	62	1	WDR13	23	48457119	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09		48457119	106813441	100	10447											
STARD8	9754	genome.wustl.edu	37	X	67941447	67941447	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chrX:67941447A>T	ENST00000252336.6	+	9	2450	c.2078A>T	c.(2077-2079)gAg>gTg	p.E693V	STARD8_ENST00000374599.3_Missense_Mutation_p.E773V|STARD8_ENST00000374597.3_Missense_Mutation_p.E693V	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	693	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAGAACCGAGAGGTGCTACAG	0.577																																																0			X											99	83	89					X																	67941447		2203	4300	6503	67858172	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2078A>T	X.37:g.67941447A>T	ENSP00000252336:p.Glu693Val		67858172	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277444	0.80580	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.20069	2.1;2.1;2.1	4.15	4.15	0.48705	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.43033	0.1229	M	0.75150	2.29	0.80722	D	1	P;D	0.69078	0.935;0.997	P;D	0.70935	0.649;0.971	T	0.41556	-0.9502	10	0.87932	D	0	.	10.4115	0.44296	1.0:0.0:0.0:0.0	.	773;693	Q92502-2;Q92502	.;STAR8_HUMAN	V	693;773;693	ENSP00000252336:E693V;ENSP00000363727:E773V;ENSP00000363725:E693V	ENSP00000252336:E693V	E	+	2	0	STARD8	67858172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.581000	0.90788	1.652000	0.50683	0.486000	0.48141	GAG		0.577	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		T	67941447	A	T	67941447	3	4	183	1	0	0	0	0	1	0	0	0	15265	304	11	5	2356	5	STARD8	23	67941447	Missense_Mutation	SNP	A	TCGA-23-1114-01B-01W-0633-09	19484328	67941447	87329113	101	10448											
EFNB1	1947	genome.wustl.edu	37	X	68059567	68059567	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chrX:68059567G>A	ENST00000204961.4	+	3	1247	c.467G>A	c.(466-468)cGc>cAc	p.R156H		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	156	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TGCCGCACACGCACCATGAAG	0.572																																																0			X											82	59	67					X																	68059567		2203	4300	6503	67976292	SO:0001583	missense	1947			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.467G>A	X.37:g.68059567G>A	ENSP00000204961:p.Arg156His		67976292	D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231202	0.79688	.	.	ENSG00000090776	ENST00000204961	D	0.93547	-3.24	5.24	5.24	0.73138	Cupredoxin (2);	0.177297	0.48767	D	0.000169	D	0.90058	0.6895	L	0.28014	0.82	0.42859	D	0.994103	D	0.59767	0.986	P	0.47864	0.559	D	0.88979	0.3406	10	0.27785	T	0.31	-7.2292	15.0463	0.71830	0.0:0.0:1.0:0.0	.	156	P98172	EFNB1_HUMAN	H	156	ENSP00000204961:R156H	ENSP00000204961:R156H	R	+	2	0	EFNB1	67976292	0.182000	0.23173	0.964000	0.40570	0.970000	0.65996	2.769000	0.47654	2.435000	0.82474	0.544000	0.68410	CGC		0.572	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		A	68059567	G	A	68059567	3	1	183	1	0	0	0	0	1	0	0	0	4955	1087	38	1	477	1	EFNB1	23	68059567	Missense_Mutation	SNP	G	TCGA-23-1114-01B-01W-0633-09	118120	68059567	87210993	102	10449											
PHKA1	5255	genome.wustl.edu	37	X	71846834	71846834	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chrX:71846834A>T	ENST00000373542.4	-	17	1939	c.1780T>A	c.(1780-1782)Ttt>Att	p.F594I	PHKA1_ENST00000339490.3_Missense_Mutation_p.F594I|PHKA1_ENST00000541944.1_Missense_Mutation_p.F594I|PHKA1_ENST00000373545.3_Missense_Mutation_p.F594I|PHKA1_ENST00000373539.3_Missense_Mutation_p.F594I	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	594					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCCCCACCAAAATACCCATCT	0.388																																																0			X											166	139	148					X																	71846834		2203	4300	6503	71763559	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1780T>A	X.37:g.71846834A>T	ENSP00000362643:p.Phe594Ile		71763559	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842112	0.32513	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.89939	-2.54;-2.59;-2.54;-2.57;-2.57	4.85	4.85	0.62838	Glycoside hydrolase 15-related (1);	0.109695	0.64402	D	0.000007	D	0.86020	0.5833	L	0.35593	1.075	0.58432	D	0.999998	P;B;B	0.48834	0.916;0.036;0.201	P;B;B	0.54706	0.759;0.027;0.141	T	0.82798	-0.0279	10	0.02654	T	1	-17.3519	11.3458	0.49559	1.0:0.0:0.0:0.0	.	594;594;594	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	I	594	ENSP00000362646:F594I;ENSP00000362643:F594I;ENSP00000441251:F594I;ENSP00000342469:F594I;ENSP00000362640:F594I	ENSP00000342469:F594I	F	-	1	0	PHKA1	71763559	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	8.754000	0.91642	1.577000	0.49804	0.345000	0.21793	TTT		0.388	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			T	71846834	A	T	71846834	3	4	183	1	0	0	0	0	1	0	0	0	11843	14	1	5	1955	5	PHKA1	23	71846834	Missense_Mutation	SNP	A	TCGA-23-1114-01B-01W-0633-09	3787267	71846834	83423726	103	10450											
SMARCA1	6594	genome.wustl.edu	37	X	128602868	128602868	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chrX:128602868C>G	ENST00000371122.4	-	21	2709	c.2580G>C	c.(2578-2580)tgG>tgC	p.W860C	SMARCA1_ENST00000371121.3_Missense_Mutation_p.W848C|SMARCA1_ENST00000371123.1_Missense_Mutation_p.W848C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	860	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCGTTTAGTCCAGTTTGTGA	0.333																																																0			X											96	86	90					X																	128602868		2203	4300	6503	128430549	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2580G>C	X.37:g.128602868C>G	ENSP00000360163:p.Trp860Cys		128430549	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790805	0.70452	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.97665	-4.47;-4.47;-4.48;-4.3	5.3	5.3	0.74995	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.64402	D	0.000005	D	0.98985	0.9654	H	0.95679	3.705	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99560	1.0968	10	0.87932	D	0	-4.4856	18.2711	0.90069	0.0:1.0:0.0:0.0	.	839;860;848;860	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	C	848;848;860;839	ENSP00000360162:W848C;ENSP00000360164:W848C;ENSP00000360163:W860C;ENSP00000404275:W839C	ENSP00000360162:W848C	W	-	3	0	SMARCA1	128430549	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.617000	0.83032	2.340000	0.79590	0.544000	0.68410	TGG		0.333	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		G	128602868	C	G	128602868	3	3	183	1	0	0	0	0	1	0	0	0	14771	856	30	3	600	3	SMARCA1	23	128602868	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	56756034	128602868	26667692	104	10451											
PLAC1	10761	genome.wustl.edu	37	X	133700432	133700432	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chrX:133700432T>A	ENST00000359237.4	-	3	566	c.281A>T	c.(280-282)tAc>tTc	p.Y94F	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CTCAGTGCTGTAGATAACCAT	0.532																																																0			X											210	177	188					X																	133700432		2203	4300	6503	133528098	SO:0001583	missense	10761			AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"cancer/testis antigen 92"	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.281A>T	X.37:g.133700432T>A	ENSP00000352173:p.Tyr94Phe		133528098		Missense_Mutation	SNP	ENST00000359237.4	37	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945338	0.53079	.	.	ENSG00000170965	ENST00000359237	D	0.86497	-2.13	4.39	4.39	0.52855	.	0.000000	0.34362	N	0.004037	D	0.88599	0.6480	L	0.46157	1.445	0.22305	N	0.999212	D	0.76494	0.999	D	0.83275	0.996	T	0.78191	-0.2300	10	0.14656	T	0.56	-23.7138	9.0168	0.36175	0.0:0.0:0.0:1.0	.	94	Q9HBJ0	PLAC1_HUMAN	F	94	ENSP00000352173:Y94F	ENSP00000352173:Y94F	Y	-	2	0	PLAC1	133528098	1.000000	0.71417	0.483000	0.27378	0.274000	0.26718	3.042000	0.49815	1.951000	0.56629	0.486000	0.48141	TAC		0.532	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		A	133700432	T	A	133700432	3	1	183	1	0	0	0	0	1	0	0	0	12012	1638	57	5	361	5	PLAC1	23	133700432	Missense_Mutation	SNP	T	TCGA-23-1114-01B-01W-0633-09	5097564	133700432	21570128	105	10452											
MAGEC1	9947	genome.wustl.edu	37	X	140994026	140994026	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chrX:140994026C>A	ENST00000285879.4	+	4	1122	c.836C>A	c.(835-837)aCt>aAt	p.T279N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	279										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCTCCACTTTAGTGAGT	0.498										HNSCC(15;0.026)																																						0			X											91	84	86					X																	140994026		2164	4022	6186	140821692	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.836C>A	X.37:g.140994026C>A	ENSP00000285879:p.Thr279Asn		140821692	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	0.506	-0.868617	0.02590	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.20332	3.8;2.08	.	.	.	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.46437	D	0.999045	P	0.51933	0.949	B	0.37304	0.246	T	0.21518	-1.0243	8	0.87932	D	0	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	279	O60732	MAGC1_HUMAN	N	279;81;80	ENSP00000285879:T279N;ENSP00000359542:T81N	ENSP00000285879:T279N	T	+	2	0	MAGEC1	140821692	0.000000	0.05858	0.028000	0.17463	0.028000	0.11728	-0.802000	0.04545	0.148000	0.19059	0.150000	0.16122	ACT		0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140994026	C	A	140994026	3	1	183	1	0	0	0	0	1	0	0	0	9180	565	20	3	842	3	MAGEC1	23	140994026	Missense_Mutation	SNP	C	TCGA-23-1114-01B-01W-0633-09	7293594	140994026	14276534	106	10453											
FUNDC2	65991	genome.wustl.edu	37	X	154282920	154282920	+	Silent	SNP	A	A	G			TCGA-23-1114-01B-01W-0633-09	TCGA-23-1114-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0114ee8f-86b5-4353-b16b-45899cf9bfc5	6a619513-c467-4c62-96bc-cefa5de3c3a2	g.chrX:154282920A>G	ENST00000369498.3	+	5	797	c.543A>G	c.(541-543)ggA>ggG	p.G181G	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	181						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTTTTCGGAGGCTTTCTGC	0.428																																																0			X											155	143	147					X																	154282920		2203	4300	6503	153936114	SO:0001819	synonymous_variant	65991			AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.543A>G	X.37:g.154282920A>G			153936114	B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Silent	SNP	ENST00000369498.3	37	CCDS14763.1																																																																																				0.428	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		G	154282920	A	G	154282920	2	3	183	1	0	0	0	0	0	0	0	1	6098	291	11	4		4	FUNDC2	23	154282920	Silent	SNP	A	TCGA-23-1114-01B-01W-0633-09	13288894	154282920	987640	107	10454											
PAPPA2	60676	broad.mit.edu	37	1	176664927	176664927	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr1:176664927A>G	ENST00000367662.3	+	7	3842	c.2678A>G	c.(2677-2679)tAt>tGt	p.Y893C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	893					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y893C(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCGTCAGTATGTGCACACA	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											83	86	85					1																	176664927		2086	4234	6320	174931550	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2678A>G	1.37:g.176664927A>G	ENSP00000356634:p.Tyr893Cys		174931550	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165435	0.78339	.	.	ENSG00000116183	ENST00000367662	T	0.04706	3.57	5.51	5.51	0.81932	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01218	-1.1415	10	0.87932	D	0	-22.1286	15.2975	0.73922	1.0:0.0:0.0:0.0	.	893	Q9BXP8	PAPP2_HUMAN	C	893	ENSP00000356634:Y893C	ENSP00000356634:Y893C	Y	+	2	0	PAPPA2	174931550	1.000000	0.71417	0.986000	0.45419	0.958000	0.62258	7.137000	0.77295	2.098000	0.63641	0.460000	0.39030	TAT		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			G	176664927	A	G	176664927	3	3	184	1	0	0	0	0	1	0	0	0	11433	449	16	4	2753	4	PAPPA2	1	176664927	Missense_Mutation	SNP	A	TCGA-23-1116-01A-01W-0486-08		176664927	72585694	1	10455											
LAMC1	3915	broad.mit.edu	37	1	183111876	183111876	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr1:183111876A>C	ENST00000258341.4	+	28	5038	c.4781A>C	c.(4780-4782)aAg>aCg	p.K1594T	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1594	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.K1594T(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GACATCAGGAAGACCTTACCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											126	110	115					1																	183111876		2203	4300	6503	181378499	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4781A>C	1.37:g.183111876A>C	ENSP00000258341:p.Lys1594Thr		181378499	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.119317	0.37436	.	.	ENSG00000135862	ENST00000258341	T	0.31247	1.5	5.57	3.28	0.37604	.	0.159267	0.53938	D	0.000041	T	0.25975	0.0633	L	0.56769	1.78	0.43317	D	0.995334	B	0.29716	0.255	B	0.24394	0.053	T	0.03566	-1.1024	10	0.25106	T	0.35	.	9.517	0.39111	0.8577:0.0:0.1423:0.0	.	1594	P11047	LAMC1_HUMAN	T	1594	ENSP00000258341:K1594T	ENSP00000258341:K1594T	K	+	2	0	LAMC1	181378499	1.000000	0.71417	0.973000	0.42090	0.997000	0.91878	5.465000	0.66725	0.415000	0.25817	0.533000	0.62120	AAG		0.522	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		C	183111876	A	C	183111876	3	2	184	1	0	0	0	0	1	0	0	0	8614	72	3	5	4891	5	LAMC1	1	183111876	Missense_Mutation	SNP	A	TCGA-23-1116-01A-01W-0486-08	6446949	183111876	66138745	2	10456											
OR2M5	127059	broad.mit.edu	37	1	248308539	248308539	+	Silent	SNP	G	G	T			TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr1:248308539G>T	ENST00000366476.1	+	1	90	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L30L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCTTCTTTCTGGTCCTGGCCA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	1											220	222	222					1																	248308539		2203	4297	6500	246375162	SO:0001819	synonymous_variant	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.90G>T	1.37:g.248308539G>T			246375162		Silent	SNP	ENST00000366476.1	37	CCDS31105.1																																																																																				0.507	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		T	248308539	G	T	248308539	2	4	184	1	0	0	0	0	0	0	0	1	11013	1335	47	3		3	OR2M5	1	248308539	Silent	SNP	G	TCGA-23-1116-01A-01W-0486-08	65196663	248308539	942082	3	10457											
DDX1	1653	broad.mit.edu	37	2	15760383	15760383	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr2:15760383G>A	ENST00000381341.2	+	18	1647	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	DDX1_ENST00000233084.3_Missense_Mutation_p.E420K			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	420	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.E420K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GAAACTGTCCGAGAAGATAAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											130	126	128					2																	15760383		2203	4300	6503	15677834	SO:0001583	missense	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1258G>A	2.37:g.15760383G>A	ENSP00000370745:p.Glu420Lys		15677834	B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141873	0.94560	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.04454	3.62;3.62	6.07	6.07	0.98685	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.06735	0.0172	N	0.17872	0.535	0.80722	D	1	D	0.61697	0.99	P	0.46659	0.523	T	0.46992	-0.9151	10	0.33141	T	0.24	-29.4035	20.6525	0.99598	0.0:0.0:1.0:0.0	.	420	Q92499	DDX1_HUMAN	K	420;420;404	ENSP00000370745:E420K;ENSP00000233084:E420K	ENSP00000233084:E420K	E	+	1	0	DDX1	15677834	1.000000	0.71417	0.995000	0.50966	0.436000	0.31835	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	GAG		0.368	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		A	15760383	G	A	15760383	3	1	184	1	0	0	0	0	1	0	0	0	4341	1059	37	1	1324	1	DDX1	2	15760383	Missense_Mutation	SNP	G	TCGA-23-1116-01A-01W-0486-08		15760383	227438990	4	10458											
ATP6V1E2	90423	broad.mit.edu	37	2	46739447	46739447	+	Missense_Mutation	SNP	C	C	T	rs142304043		TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr2:46739447C>T	ENST00000306448.4	-	2	1517	c.404G>A	c.(403-405)cGc>cAc	p.R135H	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.R135H	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	135					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.R135H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCCGGCAGCGTACAATCAT	0.552													C|||	1	0.000199681	0	0	5008	,	,		19067	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2						C	HIS/ARG	0,4406		0,0,2203	91	88	89		404	4.4	1	2	dbSNP_134	89	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ATP6V1E2	NM_080653.3	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	135/227	46739447	3,13003	2203	4300	6503	46592951	SO:0001583	missense	90423			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"ATPases / V-type"	18125	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.404G>A	2.37:g.46739447C>T	ENSP00000304891:p.Arg135His		46592951		Missense_Mutation	SNP	ENST00000306448.4	37	CCDS1826.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.48	3.633009	0.67015	0.0	3.49E-4	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	M	0.80183	2.485	0.80722	D	1	B	0.24533	0.105	B	0.26969	0.075	T	0.71361	-0.4616	9	0.72032	D	0.01	-9.083	12.7449	0.57276	0.0:1.0:0.0:0.0	.	135	Q96A05	VATE2_HUMAN	H	135	.	ENSP00000304891:R135H	R	-	2	0	ATP6V1E2	46592951	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	3.920000	0.56446	2.713000	0.92767	0.655000	0.94253	CGC		0.552	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		T	46739447	C	T	46739447	3	4	184	1	0	0	0	0	1	0	0	0	1184	768	27	1	280	1	ATP6V1E2	2	46739447	Missense_Mutation	SNP	C	TCGA-23-1116-01A-01W-0486-08	30979064	46739447	196459926	5	10459											
ALS2CR12	130540	broad.mit.edu	37	2	202208956	202208956	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr2:202208956T>G	ENST00000286190.5	-	5	445	c.399A>C	c.(397-399)caA>caC	p.Q133H	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.Q133H|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.Q133H|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.Q133H			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	133					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.Q133H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GCTCTGAGATTTGCTCTTCTA	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											271	255	261					2																	202208956		2203	4300	6503	201917201	SO:0001583	missense	130540			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.399A>C	2.37:g.202208956T>G	ENSP00000286190:p.Gln133His		201917201	G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.481966	0.44147	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.17	2.3	0.28687	.	0.136402	0.33959	N	0.004394	T	0.36744	0.0978	M	0.66939	2.045	0.28104	N	0.931296	B;B	0.32800	0.385;0.385	B;B	0.33295	0.161;0.099	T	0.38351	-0.9665	10	0.87932	D	0	-7.1569	4.8772	0.13662	0.1674:0.6461:0.0:0.1865	.	133;133	Q96Q35;G5E9S3	AL2SB_HUMAN;.	H	133	ENSP00000286190:Q133H;ENSP00000385098:Q133H;ENSP00000376086:Q133H;ENSP00000412073:Q133H	ENSP00000286190:Q133H	Q	-	3	2	ALS2CR12	201917201	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	0.620000	0.24403	0.240000	0.21263	-0.375000	0.07067	CAA		0.433	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		G	202208956	T	G	202208956	3	3	184	1	0	0	0	0	1	0	0	0	553	1838	64	5	978	5	ALS2CR12	2	202208956	Missense_Mutation	SNP	T	TCGA-23-1116-01A-01W-0486-08	155469509	202208956	40990417	6	10460											
ZCWPW2	152098	broad.mit.edu	37	3	28454696	28454696	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr3:28454696G>T	ENST00000383768.2	+	3	325	c.137G>T	c.(136-138)aGt>aTt	p.S46I	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.S46I			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	46							zinc ion binding (GO:0008270)	p.S46I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTGTTATCAAGTGAGGATTCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	3											138	132	134					3																	28454696		2203	4300	6503	28429700	SO:0001583	missense	152098			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.137G>T	3.37:g.28454696G>T	ENSP00000373278:p.Ser46Ile		28429700		Missense_Mutation	SNP	ENST00000383768.2	37	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.736214|1.736214	0.30774|0.30774	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000428875|ENST00000420223;ENST00000383768;ENST00000421010	.|T;T	.|0.32988	.|1.43;1.43	5.46|5.46	0.421|0.421	0.16451|0.16451	.|Zinc finger, CW-type (2);	.|0.425465	.|0.22405	.|N	.|0.060488	T|T	0.19725|0.19725	0.0474|0.0474	L|L	0.31578|0.31578	0.945|0.945	0.22842|0.22842	N|N	0.998661|0.998661	.|P	.|0.36789	.|0.57	.|B	.|0.39805	.|0.31	T|T	0.11108|0.11108	-1.0601|-1.0601	5|10	.|0.38643	.|T	.|0.18	-1.4113|-1.4113	5.0514|5.0514	0.14511|0.14511	0.2519:0.2965:0.4515:0.0|0.2519:0.2965:0.4515:0.0	.|.	.|46	.|Q504Y3	.|ZCPW2_HUMAN	N|I	29|46	.|ENSP00000373278:S46I;ENSP00000412386:S46I	.|ENSP00000373278:S46I	K|S	+|+	3|2	2|0	ZCWPW2|ZCWPW2	28429700|28429700	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.908000|0.908000	0.53690|0.53690	0.384000|0.384000	0.20668|0.20668	-0.226000|-0.226000	0.09899|0.09899	-0.216000|-0.216000	0.12614|0.12614	AAG|AGT		0.363	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		T	28454696	G	T	28454696	3	4	184	1	0	0	0	0	1	0	0	0	17598	1029	36	3	139	3	ZCWPW2	3	28454696	Missense_Mutation	SNP	G	TCGA-23-1116-01A-01W-0486-08		28454696	169567734	7	10461											
SDC2	6383	broad.mit.edu	37	8	97620629	97620629	+	Missense_Mutation	SNP	G	G	A	rs200028820		TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr8:97620629G>A	ENST00000302190.4	+	4	1294	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	SDC2_ENST00000518385.1_Missense_Mutation_p.E89K|SDC2_ENST00000522911.1_Missense_Mutation_p.E96K|SDC2_ENST00000519914.1_Missense_Mutation_p.E96K	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	125					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)	p.E125K(1)		breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GGACCCAGCCGAAGAGGATAC	0.458																																																1	Substitution - Missense(1)	ovary(1)	8						G	LYS/GLU	0,4406		0,0,2203	94	91	92		373	4.4	0.1	8		92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SDC2	NM_002998.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	125/202	97620629	2,13004	2203	4300	6503	97689805	SO:0001583	missense	6383			BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"Proteoglycans / Cell Surface : Syndecans", "CD molecules"	10659	protein-coding gene	gene with protein product	"syndecan proteoglycan 2"	142460	"heparan sulfate proteoglycan 1, cell surface-associated"	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.373G>A	8.37:g.97620629G>A	ENSP00000307046:p.Glu125Lys		97689805	B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	G	9.959	1.222336	0.22457	0.0	2.33E-4	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T;T	0.31247	1.52;1.5;1.53;1.53;1.51	6.17	4.37	0.52481	.	0.807226	0.12068	N	0.502522	T	0.13372	0.0324	N	0.08118	0	0.24271	N	0.995245	P	0.41524	0.753	B	0.35655	0.207	T	0.04522	-1.0945	10	0.07644	T	0.81	-3.8934	10.21	0.43134	0.2061:0.0:0.7939:0.0	.	125	P34741	SDC2_HUMAN	K	125;89;125;115;96;96;96;96	ENSP00000307046:E125K;ENSP00000429045:E89K;ENSP00000427784:E96K;ENSP00000428256:E96K;ENSP00000429121:E96K	ENSP00000307046:E125K	E	+	1	0	SDC2	97689805	1.000000	0.71417	0.082000	0.20525	0.178000	0.23041	3.450000	0.52957	0.918000	0.36919	-0.150000	0.13652	GAA		0.458	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		A	97620629	G	A	97620629	3	1	184	1	0	0	0	0	1	0	0	0	13955	1059	37	1	387	1	SDC2	8	97620629	Missense_Mutation	SNP	G	TCGA-23-1116-01A-01W-0486-08		97620629	48743393	8	10462											
TP53	7157	broad.mit.edu	37	17	7577146	7577156	+	Splice_Site	DEL	TAGATTACCAC	TAGATTACCAC	-	rs72661119|rs200579969		TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	TAGATTACCAC	TAGATTACCAC	-	-	TAGATTACCAC	TAGATTACCAC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr17:7577146_7577156delTAGATTACCAC	ENST00000269305.4	-	8	972_981	c.783_792delGTGGTAATCTA	c.(781-792)aggtggtaatct>ag	p.RW*S261fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site_p.RW*S261fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.RW*S261fs|TP53_ENST00000445888.2_Splice_Site_p.RW*S261fs|TP53_ENST00000455263.2_Splice_Site_p.RW*S261fs	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	261	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(26)|p.G262V(19)|p.0?(8)|p.L264L(5)|p.G262fs*83(5)|p.G262D(4)|p.L264fs*81(4)|p.L264del(4)|p.S261R(4)|p.L264I(3)|p.N263fs*82(3)|p.G262_F270delGNLLGRNSF(2)|p.N263D(2)|p.N263H(2)|p.N263I(2)|p.G262S(2)|p.G262del(2)|p.S261S(2)|p.G262_S269delGNLLGRNS(2)|p.L265del(2)|p.264_265insSSGNL(1)|p.L265fs*81(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_G262insX(1)|p.N263K(1)|p.G262fs*2(1)|p.L264V(1)|p.L264P(1)|p.L264R(1)|p.S261_L264>R(1)|p.N263fs*5(1)|p.G262H(1)|p.N263fs*84(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)	TCCGTCCCAGTAGATTACCACTACTCAGGAT	0.521		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"	117	Substitution - Missense(43)|Unknown(26)|Deletion - Frameshift(15)|Deletion - In frame(12)|Whole gene deletion(8)|Substitution - coding silent(8)|Insertion - Frameshift(2)|Insertion - In frame(2)|Complex - deletion inframe(1)	lung(18)|upper_aerodigestive_tract(16)|large_intestine(16)|urinary_tract(14)|ovary(13)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|breast(6)|stomach(5)|bone(4)|endometrium(2)|liver(2)|pancreas(2)|oesophagus(2)|eye(1)|genital_tract(1)|kidney(1)|skin(1)	17																																								7517881	SO:0001630	splice_region_variant	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.783-1GTGGTAATCTA>-	17.37:g.7577146_7577156delTAGATTACCAC			7517871	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	Splice_Site	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.521	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Frame_Shift_Del	-	7577156	TAGATTACCAC	-	7577146	8	5	184	1	0	1	0	1	0	0	1	0	16381	1625	57	0	494	0	TP53	17	7577146	Splice_Site	DEL	TAGATTACCAC	TCGA-23-1116-01A-01W-0486-08		7577146	73618064	9	10463											
CPAMD8	27151	broad.mit.edu	37	19	17039019	17039019	+	Missense_Mutation	SNP	T	T	C	rs375296622		TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr19:17039019T>C	ENST00000443236.1	-	25	3342	c.3311A>G	c.(3310-3312)aAt>aGt	p.N1104S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1057						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N1104S(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						GACAGACTCATTGGATGGCTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	19						T	SER/ASN	0,3938		0,0,1969	35	39	38		3311	3.1	0.8	19		38	1,8309		0,1,4154	no	missense	CPAMD8	NM_015692.2	46	0,1,6123	CC,CT,TT		0.012,0.0,0.0082	possibly-damaging	1104/1933	17039019	1,12247	1969	4155	6124	16900019	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.3311A>G	19.37:g.17039019T>C	ENSP00000402505:p.Asn1104Ser		16900019	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.558|4.558	0.103578|0.103578	0.08731|0.08731	0.0|0.0	1.2E-4|1.2E-4	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	3.13|3.13	3.13|3.13	0.36017|0.36017	.|Farnesoic acid O-methyl transferase (1);	.|0.462648	.|0.17924	.|U	.|0.157387	T|T	0.35970|0.35970	0.0950|0.0950	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P	.|0.38420	.|0.63	.|B	.|0.34873	.|0.191	T|T	0.09185|0.09185	-1.0686|-1.0686	5|9	.|0.27082	.|T	.|0.32	.|.	11.38|11.38	0.49752|0.49752	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1057	.|Q8IZJ3	.|CPMD8_HUMAN	V|S	1115|1104	.|.	.|ENSP00000291440:N1104S	M|N	-|-	1|2	0|0	CPAMD8|CPAMD8	16900019|16900019	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.075000|0.075000	0.17131|0.17131	2.111000|2.111000	0.41883|0.41883	1.072000|1.072000	0.40860|0.40860	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		C	17039019	T	C	17039019	3	2	184	1	0	0	0	0	1	0	0	0	3795	1493	52	4	2559	4	CPAMD8	19	17039019	Missense_Mutation	SNP	T	TCGA-23-1116-01A-01W-0486-08		17039019	42089964	10	10464											
GYS1	2997	broad.mit.edu	37	19	49489140	49489140	+	Silent	SNP	G	G	A	rs371721154		TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr19:49489140G>A	ENST00000323798.3	-	4	841	c.645C>T	c.(643-645)gcC>gcT	p.A215A	GYS1_ENST00000541188.1_Silent_p.A135A|GYS1_ENST00000540532.1_Silent_p.A135A|GYS1_ENST00000263276.6_Silent_p.A151A|GYS1_ENST00000457974.1_5'Flank|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	215					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)	p.A215A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCACGGCACCGGCACACAGGT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19						G	,	0,4406		0,0,2203	68	61	64		453,645	-7.9	0	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GYS1	NM_001161587.1,NM_002103.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	151/674,215/738	49489140	1,13005	2203	4300	6503	54180952	SO:0001819	synonymous_variant	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.645C>T	19.37:g.49489140G>A			54180952	Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1																																																																																				0.632	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		A	49489140	G	A	49489140	2	1	184	1	0	0	0	0	0	0	0	1	6912	1103	39	1		1	GYS1	19	49489140	Silent	SNP	G	TCGA-23-1116-01A-01W-0486-08	32450121	49489140	9639843	11	10465											
MC3R	4159	broad.mit.edu	37	20	54824044	54824044	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1116-01A-01W-0486-08	TCGA-23-1116-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a7a5ba23-a4bb-4224-9e67-36866679f583	c1171469-248f-4cd9-9af0-1356bbaf4b60	g.chr20:54824044G>C	ENST00000243911.2	+	1	257	c.145G>C	c.(145-147)Ggc>Cgc	p.G49R		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	49					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.G86R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGTCTCTGGGCATCGTCAG	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											105	90	95					20																	54824044		2203	4300	6503	54257451	SO:0001583	missense	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.145G>C	20.37:g.54824044G>C	ENSP00000243911:p.Gly49Arg		54257451	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889499	0.72524	.	.	ENSG00000124089	ENST00000243911	T	0.02974	4.09	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000003	T	0.06600	0.0169	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56763	-0.7925	10	0.87932	D	0	.	17.9343	0.89008	0.0:0.0:1.0:0.0	.	86	P41968	MC3R_HUMAN	R	49	ENSP00000243911:G49R	ENSP00000243911:G49R	G	+	1	0	MC3R	54257451	1.000000	0.71417	0.999000	0.59377	0.518000	0.34316	9.618000	0.98365	2.317000	0.78254	0.650000	0.86243	GGC		0.567	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			C	54824044	G	C	54824044	3	2	184	1	0	0	0	0	1	0	0	0	9365	1232	43	3	147	3	MC3R	20	54824044	Missense_Mutation	SNP	G	TCGA-23-1116-01A-01W-0486-08		54824044	8201476	12	10466											
TARDBP	23435	genome.wustl.edu	37	1	11078845	11078845	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:11078845C>T	ENST00000240185.3	+	4	572	c.458C>T	c.(457-459)aCg>aTg	p.T153M	TARDBP_ENST00000315091.3_Missense_Mutation_p.T153M|TARDBP_ENST00000439080.2_Missense_Mutation_p.T37M	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	153	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T153M(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GTTCGTTTTACGGAATATGAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											200	190	194					1																	11078845		2203	4300	6503	11001432	SO:0001583	missense	23435			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.458C>T	1.37:g.11078845C>T	ENSP00000240185:p.Thr153Met		11001432	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	CCDS122.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360400	0.61403	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	D;D;D	0.86030	-2.06;-2.06;-2.06	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.173376	0.64402	D	0.000016	T	0.79592	0.4472	L	0.32530	0.975	0.49299	D	0.999771	B;B	0.31548	0.328;0.269	B;B	0.22753	0.018;0.041	T	0.76639	-0.2885	10	0.44086	T	0.13	-19.1925	20.0826	0.97783	0.0:1.0:0.0:0.0	.	37;153	B4DJ45;Q13148	.;TADBP_HUMAN	M	153;37;153	ENSP00000240185:T153M;ENSP00000404666:T37M;ENSP00000313129:T153M	ENSP00000240185:T153M	T	+	2	0	TARDBP	11001432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.802000	0.69122	2.746000	0.94184	0.655000	0.94253	ACG		0.393	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		T	11078845	C	T	11078845	3	4	185	1	0	0	0	0	1	0	0	0	15557	536	19	1	468	1	TARDBP	1	11078845	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09		11078845	238171776	1	10467											
YTHDF2	51441	genome.wustl.edu	37	1	29069845	29069845	+	Missense_Mutation	SNP	C	C	T	rs370101470		TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:29069845C>T	ENST00000373812.3	+	4	1425	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	YTHDF2_ENST00000542507.1_Missense_Mutation_p.R355W|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R305W	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	355	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.R355W(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCACCTCGGAACCGTGG	0.582																																																2	Substitution - Missense(2)	ovary(1)|NS(1)	1						C	TRP/ARG,TRP/ARG,TRP/ARG	0,3994		0,0,1997	98	97	97		913,1063,1063	5.9	1	1		97	1,8369		0,1,4184	no	missense,missense,missense	YTHDF2	NM_001172828.1,NM_001173128.1,NM_016258.2	101,101,101	0,1,6181	TT,TC,CC		0.0119,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging	305/530,355/580,355/580	29069845	1,12363	1997	4185	6182	28942432	SO:0001583	missense	51441			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1063C>T	1.37:g.29069845C>T	ENSP00000362918:p.Arg355Trp		28942432	A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604094	0.66445	0.0	1.19E-4	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.59364	0.27;0.27;0.27	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72147	-0.4378	9	.	.	.	.	13.9701	0.64235	0.1518:0.8482:0.0:0.0	.	355;355	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	W	355;355;305;355	ENSP00000444660:R355W;ENSP00000362918:R355W;ENSP00000439394:R305W	.	R	+	1	2	YTHDF2	28942432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.861000	0.69553	2.802000	0.96397	0.655000	0.94253	CGG		0.582	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		T	29069845	C	T	29069845	3	4	185	1	0	0	0	0	1	0	0	0	17499	875	31	1	1077	1	YTHDF2	1	29069845	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	17991000	29069845	220180776	2	10468											
ZSCAN20	7579	genome.wustl.edu	37	1	33945215	33945215	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:33945215C>A	ENST00000361328.3	+	2	479	c.326C>A	c.(325-327)aCc>aAc	p.T109N	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.T109N|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	109	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T109N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGGTCCAGACCTGGGTGCAG	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											38	42	40					1																	33945215		2203	4299	6502	33717802	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.326C>A	1.37:g.33945215C>A	ENSP00000355053:p.Thr109Asn		33717802	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564208	0.27915	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.06218	3.33	4.97	1.86	0.25419	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.277671	0.26052	N	0.026637	T	0.07593	0.0191	L	0.42686	1.345	0.26485	N	0.975041	B;P;B	0.44627	0.275;0.839;0.379	B;P;B	0.48677	0.075;0.586;0.129	T	0.20306	-1.0279	10	0.24483	T	0.36	-2.8947	5.1322	0.14917	0.0:0.4533:0.3559:0.1908	.	109;109;109	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	N	109;109;109;43;43	ENSP00000362512:T109N	ENSP00000324450:T109N	T	+	2	0	ZSCAN20	33717802	0.046000	0.20272	1.000000	0.80357	0.975000	0.68041	-0.193000	0.09573	0.669000	0.31146	0.637000	0.83480	ACC		0.607	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		A	33945215	C	A	33945215	3	1	185	1	0	0	0	0	1	0	0	0	18232	507	18	3	328	3	ZSCAN20	1	33945215	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	4875370	33945215	215305406	3	10469											
ZNF691	51058	genome.wustl.edu	37	1	43316672	43316672	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:43316672G>A	ENST00000372506.1	+	4	383	c.43G>A	c.(43-45)Gag>Aag	p.E15K	ZNF691_ENST00000397044.3_Missense_Mutation_p.E46K|ZNF691_ENST00000372504.1_Missense_Mutation_p.E37K|ZNF691_ENST00000372502.1_Missense_Mutation_p.E37K|ZNF691_ENST00000372507.1_Missense_Mutation_p.E15K|ZNF691_ENST00000372508.3_Missense_Mutation_p.E15K	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	46						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E46K(1)|p.E15K(1)		large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACACCTGCCTGAGGAAGGGGA	0.547																																																2	Substitution - Missense(2)	ovary(2)	1											73	73	73					1																	43316672		2203	4300	6503	43089259	SO:0001583	missense	51058				CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"Zinc fingers, C2H2-type"	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.43G>A	1.37:g.43316672G>A	ENSP00000361584:p.Glu15Lys		43089259	A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	37	CCDS476.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164676	0.78339	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000397034;ENST00000372503;ENST00000372502	T;T;T;T;T;T;T	0.09073	3.06;3.06;3.06;3.02;3.02;4.46;3.02	5.85	5.85	0.93711	.	0.220360	0.32593	N	0.005885	T	0.07593	0.0191	N	0.19112	0.55	0.47214	D	0.99935	P;P	0.45348	0.7;0.856	B;B	0.39935	0.314;0.314	T	0.31336	-0.9947	10	0.38643	T	0.18	-16.8708	18.0364	0.89305	0.0:0.0:1.0:0.0	.	46;46	B4DJR7;Q5VV52	.;ZN691_HUMAN	K	15;15;15;46;37;46;46;37	ENSP00000361586:E15K;ENSP00000361585:E15K;ENSP00000361584:E15K;ENSP00000380237:E46K;ENSP00000361582:E37K;ENSP00000380228:E46K;ENSP00000361580:E37K	ENSP00000361580:E37K	E	+	1	0	ZNF691	43089259	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.120000	0.71596	2.941000	0.99782	0.655000	0.94253	GAG		0.547	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		A	43316672	G	A	43316672	3	1	185	1	0	0	0	0	1	0	0	0	18096	1291	45	2	45	2	ZNF691	1	43316672	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	9371457	43316672	205933949	4	10470											
KCNA10	3744	genome.wustl.edu	37	1	111061295	111061295	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:111061295C>G	ENST00000369771.2	-	1	502	c.115G>C	c.(115-117)Ggc>Cgc	p.G39R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	39					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.G39R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CCAGGCCGGCCTTTTGGGCTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											44	48	47					1																	111061295		2203	4300	6503	110862818	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.115G>C	1.37:g.111061295C>G	ENSP00000358786:p.Gly39Arg		110862818		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802543	0.31869	.	.	ENSG00000143105	ENST00000369771	D	0.96913	-4.17	5.63	4.71	0.59529	.	0.858044	0.10658	N	0.649041	D	0.93210	0.7837	L	0.60455	1.87	0.35048	D	0.760352	P	0.51240	0.943	P	0.45681	0.49	D	0.88403	0.3016	10	0.27785	T	0.31	.	12.9071	0.58158	0.2951:0.7049:0.0:0.0	.	39	Q16322	KCA10_HUMAN	R	39	ENSP00000358786:G39R	ENSP00000358786:G39R	G	-	1	0	KCNA10	110862818	0.977000	0.34250	0.998000	0.56505	0.866000	0.49608	2.575000	0.46025	1.356000	0.45884	0.655000	0.94253	GGC		0.527	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		G	111061295	C	G	111061295	3	3	185	1	0	0	0	0	1	0	0	0	8002	681	24	3	1424	3	KCNA10	1	111061295	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	67744623	111061295	138189326	5	10471											
KCNA3	3738	genome.wustl.edu	37	1	111216555	111216555	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:111216555C>T	ENST00000369769.2	-	1	1100	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	293					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.D293N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AAGAAGGGATCGGAGAAGCTG	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											68	70	69					1																	111216555		2203	4300	6503	111018078	SO:0001583	missense	3738			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.877G>A	1.37:g.111216555C>T	ENSP00000358784:p.Asp293Asn		111018078	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401152	0.62288	.	.	ENSG00000177272	ENST00000369769	D	0.97404	-4.37	5.04	5.04	0.67666	.	0.000000	0.85682	U	0.000000	D	0.97520	0.9188	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	P	0.59487	0.858	D	0.97672	1.0167	10	0.56958	D	0.05	.	18.3557	0.90356	0.0:1.0:0.0:0.0	.	293	P22001	KCNA3_HUMAN	N	293	ENSP00000358784:D293N	ENSP00000358784:D293N	D	-	1	0	KCNA3	111018078	1.000000	0.71417	0.945000	0.38365	0.975000	0.68041	7.727000	0.84838	2.337000	0.79520	0.655000	0.94253	GAT		0.612	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		T	111216555	C	T	111216555	3	4	185	1	0	0	0	0	1	0	0	0	8004	884	31	1	854	1	KCNA3	1	111216555	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	155260	111216555	138034066	6	10472											
TMOD4	79005	genome.wustl.edu	37	1	151143925	151143925	+	IGR	SNP	C	C	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:151143925C>A	ENST00000368905.4	+	0	2016				TMOD4_ENST00000416280.2_Missense_Mutation_p.G168V	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.G237V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AATGGGGTCACCACTCCTCGT	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											201	160	174					1																	151143925		2203	4300	6503	149410549	SO:0001628	intergenic_variant	29765			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258		1.37:g.151143925C>A			149410549	B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	CCDS987.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376119	0.82682	.	.	ENSG00000163157	ENST00000295314;ENST00000416280	T;T	0.23147	1.92;1.92	5.89	4.98	0.66077	.	0.101710	0.64402	D	0.000002	T	0.25975	0.0633	L	0.54965	1.715	0.80722	D	1	P;D	0.64830	0.945;0.994	P;P	0.57548	0.493;0.823	T	0.03933	-1.0991	10	0.72032	D	0.01	-16.5	6.8453	0.23984	0.0:0.7758:0.0:0.2242	.	168;237	B7Z6N9;Q9NZQ9	.;TMOD4_HUMAN	V	237;168	ENSP00000295314:G237V;ENSP00000414180:G168V	ENSP00000295314:G237V	G	-	2	0	TMOD4	149410549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.367000	0.59498	2.793000	0.96121	0.561000	0.74099	GGT		0.517	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	NM_024041		A	151143925	C	A	151143925	1	1	185	0	1	0	0	0	0	0	0	0	16236	507	18	3		3	TMOD4	1	151143925	IGR	SNP	C	TCGA-23-1117-01A-02W-0488-09	39927370	151143925	98106696	7	10473											
SLAMF9	89886	genome.wustl.edu	37	1	159922246	159922246	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:159922246G>T	ENST00000368093.3	-	3	586	c.470C>A	c.(469-471)tCt>tAt	p.S157Y	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	157	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S157Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCTCCACAGAGCACACCAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											145	139	141					1																	159922246		2203	4300	6503	158188870	SO:0001583	missense	89886			AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"Immunoglobulin superfamily / V-set domain containing"	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.470C>A	1.37:g.159922246G>T	ENSP00000357072:p.Ser157Tyr		158188870	Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524778	0.64747	.	.	ENSG00000162723	ENST00000368093	T	0.04119	3.7	4.89	2.73	0.32206	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.395756	0.28635	N	0.014643	T	0.10594	0.0259	M	0.88979	2.995	0.09310	N	1	D	0.69078	0.997	D	0.66196	0.942	T	0.04607	-1.0939	9	.	.	.	-1.0116	7.0579	0.25109	0.1017:0.0:0.717:0.1813	.	157	Q96A28	SLAF9_HUMAN	Y	157	ENSP00000357072:S157Y	.	S	-	2	0	SLAMF9	158188870	0.812000	0.29077	0.031000	0.17742	0.789000	0.44602	0.960000	0.29253	1.027000	0.39758	0.650000	0.86243	TCT		0.547	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		T	159922246	G	T	159922246	3	4	185	1	0	0	0	0	1	0	0	0	14374	942	33	3	407	3	SLAMF9	1	159922246	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	8778321	159922246	89328375	8	10474											
RNASEL	6041	genome.wustl.edu	37	1	182555278	182555278	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:182555278T>A	ENST00000367559.3	-	2	917	c.664A>T	c.(664-666)Acg>Tcg	p.T222S	RNASEL_ENST00000444138.1_Missense_Mutation_p.T222S|RNASEL_ENST00000539397.1_Missense_Mutation_p.T222S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	222					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.T222S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AGCAGATGCGTAATAGCCTCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											87	81	83					1																	182555278		2203	4300	6503	180821901	SO:0001583	missense	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.664A>T	1.37:g.182555278T>A	ENSP00000356530:p.Thr222Ser		180821901	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.517413	0.27123	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.65178	-0.14;-0.14;-0.14	4.81	-2.84	0.05751	Ankyrin repeat-containing domain (4);	1.119570	0.06668	N	0.765590	T	0.49541	0.1563	L	0.38953	1.18	0.09310	N	1	B;B;B	0.30851	0.297;0.297;0.164	B;B;B	0.28784	0.094;0.094;0.026	T	0.39961	-0.9588	10	0.33940	T	0.23	-0.0318	11.7759	0.51985	0.0:0.6564:0.0:0.3436	.	222;222;222	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	S	222	ENSP00000356530:T222S;ENSP00000411147:T222S;ENSP00000440844:T222S	ENSP00000356530:T222S	T	-	1	0	RNASEL	180821901	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.936000	0.28938	-0.303000	0.08856	-0.376000	0.06991	ACG		0.522	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		A	182555278	T	A	182555278	3	1	185	1	0	0	0	0	1	0	0	0	13419	1638	57	5	1585	5	RNASEL	1	182555278	Missense_Mutation	SNP	T	TCGA-23-1117-01A-02W-0488-09	22633032	182555278	66695343	9	10475											
HMCN1	83872	genome.wustl.edu	37	1	186135993	186135993	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:186135993G>T	ENST00000271588.4	+	100	15722	c.15493G>T	c.(15493-15495)Gac>Tac	p.D5165Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.D5165Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5165	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D5165Y(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAGGACTGTGACAATACGAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											225	186	199					1																	186135993		2203	4300	6503	184402616	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15493G>T	1.37:g.186135993G>T	ENSP00000271588:p.Asp5165Tyr		184402616	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281465	0.80692	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87256	-2.23;-2.23	5.69	5.69	0.88448	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.088997	0.85682	D	0.000000	D	0.85553	0.5723	N	0.11870	0.19	0.47994	D	0.999564	D	0.65815	0.995	D	0.63283	0.913	D	0.86248	0.1647	10	0.46703	T	0.11	.	13.0716	0.59064	0.0732:0.0:0.9268:0.0	.	5165	Q96RW7	HMCN1_HUMAN	Y	5165	ENSP00000271588:D5165Y;ENSP00000356462:D5165Y	ENSP00000271588:D5165Y	D	+	1	0	HMCN1	184402616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.468000	0.80943	2.677000	0.91161	0.655000	0.94253	GAC		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186135993	G	T	186135993	3	4	185	1	0	0	0	0	1	0	0	0	7220	1290	45	3	15891	3	HMCN1	1	186135993	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	3580715	186135993	63114628	10	10476											
C4BPB	725	genome.wustl.edu	37	1	207269942	207269942	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:207269942G>T	ENST00000243611.5	+	4	779	c.485G>T	c.(484-486)aGt>aTt	p.S162I	C4BPB_ENST00000391923.1_Missense_Mutation_p.S162I|C4BPB_ENST00000367078.3_Missense_Mutation_p.S162I|C4BPB_ENST00000367076.3_Missense_Mutation_p.S161I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	162	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)		p.S161I(1)		breast(2)|lung(1)|ovary(1)	4						TCCACCATTAGTTATTACTGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											83	83	83					1																	207269942		2203	4300	6503	205336565	SO:0001583	missense	725			L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"complement component 4 binding protein, beta chain", "C4b binding protein, beta chain"	120831	"complement component 4-binding protein, beta"	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.485G>T	1.37:g.207269942G>T	ENSP00000243611:p.Ser162Ile		205336565	A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	37	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	G	8.944	0.966550	0.18659	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	4.34	2.37	0.29283	Complement control module (2);Sushi/SCR/CCP (3);	0.277722	0.25651	N	0.029202	T	0.52108	0.1714	L	0.43554	1.36	0.21220	N	0.999757	B;B	0.33413	0.411;0.358	B;B	0.35114	0.196;0.124	T	0.40794	-0.9544	10	0.33940	T	0.23	-13.7594	11.0622	0.47955	0.0:0.5614:0.4386:0.0	.	162;161	P20851;P20851-2	C4BPB_HUMAN;.	I	162;162;162;161;162	ENSP00000356045:S162I;ENSP00000392237:S162I;ENSP00000243611:S162I;ENSP00000356043:S161I;ENSP00000375790:S162I	ENSP00000243611:S162I	S	+	2	0	C4BPB	205336565	0.087000	0.21565	0.040000	0.18447	0.030000	0.12068	0.284000	0.18864	0.518000	0.28383	-0.282000	0.10007	AGT		0.458	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		T	207269942	G	T	207269942	3	4	185	1	0	0	0	0	1	0	0	0	2250	1029	36	3	499	3	C4BPB	1	207269942	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	21133949	207269942	41980679	11	10477											
USH2A	7399	genome.wustl.edu	37	1	216420527	216420527	+	Nonsense_Mutation	SNP	G	G	A	rs111033334		TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:216420527G>A	ENST00000307340.3	-	13	2595	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.R737*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.R737*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	737	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R737*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAAAGCTTCGGAGAAATTTA	0.388										HNSCC(13;0.011)																																						1	Substitution - Nonsense(1)	ovary(1)	1	GRCh37	CM071124	USH2A	M	rs111033334						66	71	69					1																	216420527		2180	4292	6472	214487150	SO:0001587	stop_gained	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2209C>T	1.37:g.216420527G>A	ENSP00000305941:p.Arg737*		214487150	Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	43	9.874808	0.99285	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.69	3.59	0.41128	.	0.619565	0.12799	N	0.438220	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	14.9335	0.70935	0.0:0.0:0.7011:0.2989	.	.	.	.	X	737	.	ENSP00000305941:R737X	R	-	1	2	USH2A	214487150	0.955000	0.32602	0.479000	0.27329	0.985000	0.73830	1.627000	0.37050	1.308000	0.44962	0.655000	0.94253	CGA		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216420527	G	A	216420527	4	1	185	1	0	0	0	0	0	1	0	0	17036	1124	39	1	13653	1	USH2A	1	216420527	Nonsense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	9150585	216420527	32830094	12	10478											
ZNF496	84838	genome.wustl.edu	37	1	247464555	247464555	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr1:247464555C>G	ENST00000294753.4	-	9	1494	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.E380Q	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	344					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E344Q(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGGCTGTTCTCTAGAGATCGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											65	73	70					1																	247464555		2134	4193	6327	245531178	SO:0001583	missense	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1030G>C	1.37:g.247464555C>G	ENSP00000294753:p.Glu344Gln		245531178	Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	4.136	0.023595	0.08006	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.06528	3.29;3.3	4.28	-0.344	0.12628	.	0.793754	0.11089	N	0.601000	T	0.03390	0.0098	N	0.11560	0.145	0.09310	N	1	P;B	0.46142	0.873;0.001	B;B	0.41412	0.356;0.001	T	0.47611	-0.9104	10	0.21540	T	0.41	-11.767	8.1634	0.31211	0.0:0.4532:0.4491:0.0977	.	380;344	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	Q	344;380	ENSP00000294753:E344Q;ENSP00000355454:E380Q	ENSP00000294753:E344Q	E	-	1	0	ZNF496	245531178	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.092000	0.11129	0.135000	0.18707	-0.165000	0.13383	GAG		0.612	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		G	247464555	C	G	247464555	3	3	185	1	0	0	0	0	1	0	0	0	17945	922	32	3	737	3	ZNF496	1	247464555	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	31044028	247464555	1786066	13	10479											
EML4	27436	genome.wustl.edu	37	2	42522282	42522282	+	Silent	SNP	T	T	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:42522282T>A	ENST00000318522.5	+	12	1498	c.1236T>A	c.(1234-1236)gtT>gtA	p.V412V	EML4_ENST00000402711.2_Silent_p.V354V|EML4_ENST00000401738.3_Silent_p.V423V	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	412					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.V412V(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATGAAGTTGTTTTGGCTGTGG	0.348			T	ALK	NSCLC																																		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	1	Substitution - coding silent(1)	ovary(1)	2											111	107	108					2																	42522282		2203	4300	6503	42375786	SO:0001819	synonymous_variant	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1236T>A	2.37:g.42522282T>A			42375786	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	CCDS1807.1																																																																																				0.348	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		A	42522282	T	A	42522282	2	1	185	1	0	0	0	0	0	0	0	1	5099	1828	64	5		5	EML4	2	42522282	Silent	SNP	T	TCGA-23-1117-01A-02W-0488-09		42522282	200677091	14	10480											
MSH2	4436	genome.wustl.edu	37	2	47657031	47657031	+	Silent	SNP	G	G	A	rs63750086		TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:47657031G>A	ENST00000233146.2	+	7	1450	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	MSH2_ENST00000543555.1_Silent_p.Q343Q|MSH2_ENST00000406134.1_Silent_p.Q409Q	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	409					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.Q409Q(1)|p.Q409H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GACTCTATCAGGGTATAAATC	0.348			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	6	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|ovary(1)	2											76	70	72					2																	47657031		2203	4300	6503	47510535	SO:0001819	synonymous_variant	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1227G>A	2.37:g.47657031G>A			47510535	B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	g	8.637	0.895125	0.17613	.	.	ENSG00000095002	ENST00000448533	.	.	.	5.45	4.37	0.52481	.	.	.	.	.	T	0.69133	0.3077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67825	-0.5570	5	0.39692	T	0.17	-3.3463	14.0859	0.64957	0.1286:0.0:0.8714:0.0	.	.	.	.	K	409	.	ENSP00000415023:R409K	R	+	2	0	MSH2	47510535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.772000	0.47678	2.571000	0.86741	0.651000	0.88453	AGG		0.348	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			A	47657031	G	A	47657031	2	1	185	1	0	0	0	0	0	0	0	1	9870	991	35	2		2	MSH2	2	47657031	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	5134749	47657031	195542342	15	10481											
RTN4	57142	genome.wustl.edu	37	2	55214836	55214836	+	Splice_Site	SNP	T	T	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:55214836T>C	ENST00000337526.6	-	4	3257		c.e4-2		RTN4_ENST00000486085.1_5'Flank|RTN4_ENST00000357732.4_Splice_Site|RTN4_ENST00000405240.1_Splice_Site|RTN4_ENST00000404909.1_Splice_Site|RTN4_ENST00000354474.6_Splice_Site|RTN4_ENST00000317610.7_Splice_Site|RTN4_ENST00000402434.2_Splice_Site|RTN4_ENST00000357376.3_Splice_Site|RTN4_ENST00000394611.2_Splice_Site|RTN4_ENST00000394609.2_Splice_Site	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GGTCAACAACTAAAAATTGAA	0.343																																																1	Unknown(1)	ovary(1)	2											36	34	35					2																	55214836		2203	4300	6503	55068340	SO:0001630	splice_region_variant	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3014-2A>G	2.37:g.55214836T>C			55068340	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Splice_Site	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360116	0.61403	.	.	ENSG00000115310	ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474;ENST00000438462	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0979	0.72250	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RTN4	55068340	1.000000	0.71417	0.969000	0.41365	0.938000	0.57974	7.782000	0.85680	2.014000	0.59158	0.528000	0.53228	.		0.343	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		Intron	C	55214836	T	C	55214836	5	2	185	1	0	0	0	0	0	0	1	0	13731	1536	53	4	590	4	RTN4	2	55214836	Splice_Site	SNP	T	TCGA-23-1117-01A-02W-0488-09	7557805	55214836	187984537	16	10482											
GLI2	2736	genome.wustl.edu	37	2	121748046	121748046	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:121748046G>A	ENST00000452319.1	+	14	4616	c.4556G>A	c.(4555-4557)gGc>gAc	p.G1519D	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.G1519D					GLI family zinc finger 2									p.G1519D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGGATGATGGCGATCACTCG	0.622																																																1	Substitution - Missense(1)	ovary(1)	2											118	130	126					2																	121748046		2203	4300	6503	121464516	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4556G>A	2.37:g.121748046G>A	ENSP00000390436:p.Gly1519Asp		121464516		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772452	0.90108	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.24151	1.87;1.87	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.77313	2.365	0.80722	D	1	D;D	0.64830	0.99;0.994	P;P	0.60886	0.762;0.88	T	0.56727	-0.7931	10	0.87932	D	0	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	1519;1174	P10070;P10070-2	GLI2_HUMAN;.	D	1519	ENSP00000390436:G1519D;ENSP00000354586:G1519D	ENSP00000354586:G1519D	G	+	2	0	GLI2	121464516	1.000000	0.71417	0.671000	0.29857	0.989000	0.77384	9.657000	0.98554	2.581000	0.87130	0.555000	0.69702	GGC		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		A	121748046	G	A	121748046	3	1	185	1	0	0	0	0	1	0	0	0	6438	1203	42	2	4606	2	GLI2	2	121748046	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	66533210	121748046	121451327	17	10483											
PRPF40A	151188	genome.wustl.edu	37	2	153572550	153572550	+	5'Flank	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:153572550G>C	ENST00000326446.5	+	0	0				PRPF40A_ENST00000410080.1_Missense_Mutation_p.P59A|PRPF40A_ENST00000486100.1_5'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6							integral component of membrane (GO:0016021)		p.P86A(1)		kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						ATCATCTGCGGCATCATTCCA	0.458																																																1	Substitution - Missense(1)	ovary(1)	2											146	142	143					2																	153572550		1914	4119	6033	153280796	SO:0001631	upstream_gene_variant	55660			AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901		2.37:g.153572550G>C	Exception_encountered		153280796	B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902269	0.52227	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000359961;ENST00000545856;ENST00000493468;ENST00000448428	T	0.43294	0.95	5.17	5.17	0.71159	.	0.049207	0.85682	D	0.000000	T	0.32734	0.0839	L	0.36672	1.1	0.58432	D	0.999995	B;B;B	0.25667	0.07;0.114;0.131	B;B;B	0.24394	0.016;0.053;0.039	T	0.11275	-1.0594	10	0.40728	T	0.16	-10.3854	11.0054	0.47631	0.0876:0.0:0.9124:0.0	.	86;86;59	O75400;O75400-3;E9PFS0	PR40A_HUMAN;.;.	A	59;86;59;86;79;65	ENSP00000386458:P59A	ENSP00000348770:P86A	P	-	1	0	PRPF40A	153280796	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.960000	0.70348	2.411000	0.81874	0.462000	0.41574	CCG		0.458	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		C	153572550	G	C	153572550	1	2	185	0	1	0	0	0	0	0	0	0	12574	1203	42	3		3	PRPF40A	2	153572550	5'Flank	SNP	G	TCGA-23-1117-01A-02W-0488-09	31824504	153572550	89626823	18	10484											
LRP2	4036	genome.wustl.edu	37	2	170034522	170034522	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	C	T	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:170034522T>C	ENST00000263816.3	-	53	10469	c.10184A>G	c.(10183-10185)gAg>gGg	p.E3395G	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3395					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E3395G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATGGTGGCCCTCCAAATCAGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											82	72	75					2																	170034522		2203	4300	6503	169742768	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10184A>G	2.37:g.170034522T>C	ENSP00000263816:p.Glu3395Gly		169742768	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863371	0.71949	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.96104	-3.91	5.88	5.88	0.94601	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.048433	0.85682	D	0.000000	D	0.96383	0.8820	L	0.59912	1.85	0.80722	D	1	D	0.56746	0.977	P	0.57152	0.814	D	0.96731	0.9539	10	0.72032	D	0.01	.	16.2881	0.82732	0.0:0.0:0.0:1.0	.	3395	P98164	LRP2_HUMAN	G	3395;90	ENSP00000263816:E3395G	ENSP00000263816:E3395G	E	-	2	0	LRP2	169742768	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	8.036000	0.88901	2.227000	0.72691	0.528000	0.53228	GAG		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170034522	T	C	170034522	3	2	185	1	0	0	0	0	1	0	0	0	8956	1551	54	4	3891	4	LRP2	2	170034522	Missense_Mutation	SNP	T	TCGA-23-1117-01A-02W-0488-09	16461972	170034522	73164851	19	10485											
TTN	7273	genome.wustl.edu	37	2	179642016	179642016	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:179642016A>C	ENST00000591111.1	-	27	4898	c.4674T>G	c.(4672-4674)ttT>ttG	p.F1558L	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.F1558L|TTN_ENST00000342175.6_Missense_Mutation_p.F1512L|TTN_ENST00000359218.5_Missense_Mutation_p.F1512L|TTN_ENST00000460472.2_Missense_Mutation_p.F1512L|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F1558L|TTN_ENST00000342992.6_Missense_Mutation_p.F1558L			Q8WZ42	TITIN_HUMAN	titin	12415	Ig-like 7.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F1558L(2)|p.F1512L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTTCTACAAACATCGGTT	0.383																																																3	Substitution - Missense(3)	ovary(3)	2											105	99	101					2																	179642016		2203	4300	6503	179350261	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4674T>G	2.37:g.179642016A>C	ENSP00000465570:p.Phe1558Leu		179350261	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	10.88	1.476351	0.26511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.9	3.53	0.40419	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80025	0.4548	M	0.83118	2.625	0.26888	N	0.967395	P;P;P;P;D	0.57571	0.63;0.63;0.63;0.76;0.98	B;B;B;B;P	0.54856	0.273;0.273;0.273;0.273;0.762	T	0.71649	-0.4529	9	0.87932	D	0	.	10.1519	0.42799	0.8652:0.0:0.1348:0.0	.	1512;1512;1512;1558;1558	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	1558;1512;1512;1512;1512;1558	ENSP00000343764:F1558L;ENSP00000434586:F1512L;ENSP00000340554:F1512L;ENSP00000352154:F1512L;ENSP00000354117:F1558L	ENSP00000340554:F1512L	F	-	3	2	TTN	179350261	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	2.524000	0.45589	0.496000	0.27904	0.528000	0.53228	TTT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179642016	A	C	179642016	3	2	185	1	0	0	0	0	1	0	0	0	16735	127	5	5	106658	5	TTN	2	179642016	Missense_Mutation	SNP	A	TCGA-23-1117-01A-02W-0488-09	9607494	179642016	63557357	20	10486											
UBE2E3	10477	genome.wustl.edu	37	2	181846835	181846835	+	Silent	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:181846835G>T	ENST00000410062.4	+	2	459	c.66G>T	c.(64-66)gcG>gcT	p.A22A	UBE2E3_ENST00000602959.1_Silent_p.A22A|UBE2E3_ENST00000392415.2_Silent_p.A22A|UBE2E3_ENST00000602710.1_Silent_p.A22A|UBE2E3_ENST00000602475.1_Silent_p.A22A|UBE2E3_ENST00000602632.1_Silent_p.A22A|AC104076.3_ENST00000428080.1_RNA	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	22					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.A22A(1)		breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						GTTCAGATGCGGACCAGCGAG	0.493																																																1	Substitution - coding silent(1)	ovary(1)	2											34	42	39					2																	181846835		2202	4279	6481	181555080	SO:0001819	synonymous_variant	10477			AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"Ubiquitin-conjugating enzymes E2"	12479	protein-coding gene	gene with protein product		604151	"ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.66G>T	2.37:g.181846835G>T			181555080	B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Silent	SNP	ENST00000410062.4	37	CCDS2282.1																																																																																				0.493	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357		T	181846835	G	T	181846835	2	4	185	1	0	0	0	0	0	0	0	1	16854	1103	39	3		3	UBE2E3	2	181846835	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	2204819	181846835	61352538	21	10487											
PIKFYVE	200576	genome.wustl.edu	37	2	209201629	209201629	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:209201629C>G	ENST00000264380.4	+	28	4746	c.4588C>G	c.(4588-4590)Ctg>Gtg	p.L1530V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1530					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.L1530V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCCTGGAAGACTGAGACAAGG	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											71	76	74					2																	209201629		2203	4300	6503	208909874	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4588C>G	2.37:g.209201629C>G	ENSP00000264380:p.Leu1530Val		208909874	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	7.397	0.631891	0.14322	.	.	ENSG00000115020	ENST00000264380	T	0.27890	1.64	5.67	3.64	0.41730	.	0.234296	0.37393	N	0.002116	T	0.17704	0.0425	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04855	-1.0922	10	0.28530	T	0.3	-3.4948	11.6158	0.51090	0.2254:0.6655:0.1092:0.0	.	1530	Q9Y2I7	FYV1_HUMAN	V	1530	ENSP00000264380:L1530V	ENSP00000264380:L1530V	L	+	1	2	PIKFYVE	208909874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.213000	0.32407	1.363000	0.46019	0.655000	0.94253	CTG		0.368	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		G	209201629	C	G	209201629	3	3	185	1	0	0	0	0	1	0	0	0	11924	564	20	3	4705	3	PIKFYVE	2	209201629	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	27354794	209201629	33997744	22	10488											
AAMP	14	genome.wustl.edu	37	2	219130790	219130790	+	Nonsense_Mutation	SNP	T	T	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:219130790T>A	ENST00000248450.4	-	6	930	c.760A>T	c.(760-762)Aaa>Taa	p.K254*	AAMP_ENST00000420660.1_Nonsense_Mutation_p.K235*|AAMP_ENST00000444053.1_Nonsense_Mutation_p.K255*			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	254					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.K254*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGATACCTTTCAGTACATGG	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	2											123	107	113					2																	219130790		2203	4300	6503	218839034	SO:0001587	stop_gained	14			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.760A>T	2.37:g.219130790T>A	ENSP00000248450:p.Lys254*		218839034	Q8WUJ9|Q96H92	Nonsense_Mutation	SNP	ENST00000248450.4	37	CCDS33378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.9|28.9	4.963396|4.963396	0.92791|0.92791	.|.	.|.	ENSG00000127837|ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660|ENST00000422731	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	.|.	12.1182|12.1182	0.53878|0.53878	0.0:0.0:0.1428:0.8572|0.0:0.0:0.1428:0.8572	.|.	.|.	.|.	.|.	X|C	254;255;235|5	.|.	ENSP00000248450:K254X|.	K|X	-|-	1|3	0|0	AAMP|AAMP	218839034|218839034	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.972000|0.972000	0.66771|0.66771	5.319000|5.319000	0.65835|0.65835	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	AAA|TGA		0.557	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		A	219130790	T	A	219130790	4	1	185	1	0	0	0	0	0	1	0	0	17	1792	62	5	568	5	AAMP	2	219130790	Nonsense_Mutation	SNP	T	TCGA-23-1117-01A-02W-0488-09	9929161	219130790	24068583	23	10489											
COL4A4	1286	genome.wustl.edu	37	2	227924933	227924933	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr2:227924933C>A	ENST00000396625.3	-	27	2290	c.2083G>T	c.(2083-2085)Ggt>Tgt	p.G695C	COL4A4_ENST00000329662.7_Missense_Mutation_p.G695C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	695	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G695C(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGGGCACCTTGGGGACCT	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											83	84	84					2																	227924933		1846	4095	5941	227633177	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2083G>T	2.37:g.227924933C>A	ENSP00000379866:p.Gly695Cys		227633177	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374055	0.42105	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99369	-5.78;-5.78	5.75	4.84	0.62591	.	.	.	.	.	D	0.99566	0.9844	H	0.95402	3.665	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.97907	1.0306	9	0.87932	D	0	.	14.2258	0.65858	0.1485:0.8515:0.0:0.0	.	695	P53420	CO4A4_HUMAN	C	695	ENSP00000379866:G695C;ENSP00000328553:G695C	ENSP00000328553:G695C	G	-	1	0	COL4A4	227633177	0.982000	0.34865	0.192000	0.23308	0.014000	0.08584	3.849000	0.55910	2.725000	0.93324	0.655000	0.94253	GGT		0.433	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		A	227924933	C	A	227924933	3	1	185	1	0	0	0	0	1	0	0	0	3693	681	24	3	3077	3	COL4A4	2	227924933	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	8794143	227924933	15274440	24	10490											
ITPR1	3708	genome.wustl.edu	37	3	4816925	4816925	+	Splice_Site	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr3:4816925G>T	ENST00000443694.2	+	44	5934		c.e44-1		ITPR1_ENST00000423119.2_Splice_Site|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Splice_Site|ITPR1_ENST00000302640.8_Splice_Site|ITPR1_ENST00000357086.4_Splice_Site|ITPR1_ENST00000456211.2_Splice_Site			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.?(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCCAATTGCAGAACTTCCTCC	0.463																																																2	Unknown(2)	ovary(1)|kidney(1)	3											130	129	129					3																	4816925		1936	4151	6087	4791925	SO:0001630	splice_region_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5935-1G>T	3.37:g.4816925G>T			4791925	E7EPX7|E9PDE9|Q14660|Q99897	Splice_Site	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321952	0.81580	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2136	0.89878	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITPR1	4791925	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	9.787000	0.99055	2.301000	0.77427	0.591000	0.81541	.		0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	Intron	T	4816925	G	T	4816925	5	4	185	1	0	0	0	0	0	0	1	0	7920	956	33	3	6157	3	ITPR1	3	4816925	Splice_Site	SNP	G	TCGA-23-1117-01A-02W-0488-09		4816925	193205505	25	10491											
FBLN2	2199	genome.wustl.edu	37	3	13679166	13679166	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr3:13679166C>A	ENST00000295760.7	+	17	3371	c.3302C>A	c.(3301-3303)gCg>gAg	p.A1101E	FBLN2_ENST00000535798.1_Missense_Mutation_p.A1127E|FBLN2_ENST00000492059.1_Missense_Mutation_p.A1148E|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1148E	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1101	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.A567E(1)|p.A1148E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGGTGCCTGCGCATATCTTC	0.632																																																2	Substitution - Missense(2)	ovary(2)	3											46	50	49					3																	13679166		2175	4273	6448	13654167	SO:0001583	missense	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3302C>A	3.37:g.13679166C>A	ENSP00000295760:p.Ala1101Glu		13654167	B7Z9C5|Q8IUI0|Q8IUI1	Nonsense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941483	0.73557	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.78816	-1.21;-1.21;-1.12;-1.21	4.73	4.73	0.59995	.	0.057560	0.64402	D	0.000001	D	0.86518	0.5952	M	0.78049	2.395	0.80722	D	1	D;D;D	0.67145	0.988;0.996;0.977	D;D;P	0.64144	0.914;0.922;0.838	D	0.84597	0.0670	10	0.25106	T	0.35	.	17.9076	0.88923	0.0:1.0:0.0:0.0	.	1101;1148;1127	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	E	1127;1148;1101;1148	ENSP00000445705:A1127E;ENSP00000384169:A1148E;ENSP00000295760:A1101E;ENSP00000420042:A1148E	ENSP00000295760:A1101E	A	+	2	0	FBLN2	13654167	1.000000	0.71417	0.018000	0.16275	0.589000	0.36550	4.745000	0.62125	2.456000	0.83038	0.563000	0.77884	GCG		0.632	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		A	13679166	C	A	13679166	3	1	185	1	0	0	0	0	1	0	0	0	5699	768	27	3	2199	3	FBLN2	3	13679166	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	8862241	13679166	184343264	26	10492											
PRICKLE2	166336	genome.wustl.edu	37	3	64085392	64085392	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr3:64085392G>T	ENST00000295902.6	-	8	2455	c.1870C>A	c.(1870-1872)Ctc>Atc	p.L624I	PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.L680I	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	624					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L624I(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGTTGCTGAGCTGGTGGAGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	3											114	105	108					3																	64085392		2203	4300	6503	64060432	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1870C>A	3.37:g.64085392G>T	ENSP00000295902:p.Leu624Ile		64060432	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175496	0.38413	.	.	ENSG00000163637	ENST00000295902	T	0.59502	0.26	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000014	T	0.43853	0.1266	L	0.50333	1.59	0.42629	D	0.993379	P	0.40144	0.704	B	0.24394	0.053	T	0.43065	-0.9414	10	0.22706	T	0.39	-30.5079	12.9355	0.58311	0.0741:0.0:0.9259:0.0	.	624	Q7Z3G6	PRIC2_HUMAN	I	624	ENSP00000295902:L624I	ENSP00000295902:L624I	L	-	1	0	PRICKLE2	64060432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.974000	0.56852	2.655000	0.90218	0.591000	0.81541	CTC		0.587	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		T	64085392	G	T	64085392	3	4	185	1	0	0	0	0	1	0	0	0	12490	971	34	3	668	3	PRICKLE2	3	64085392	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	50406226	64085392	133937038	27	10493											
C3orf58	205428	genome.wustl.edu	37	3	143704415	143704415	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr3:143704415G>C	ENST00000315691.3	+	2	1223	c.688G>C	c.(688-690)Gca>Cca	p.A230P	C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000495414.1_Missense_Mutation_p.A21P|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	230					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.A230P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGGCCATTTGCAAAGTATCT	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											148	147	147					3																	143704415		2203	4300	6503	145187105	SO:0001583	missense	205428			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.688G>C	3.37:g.143704415G>C	ENSP00000320081:p.Ala230Pro		145187105	B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	7.593	0.671182	0.14776	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452	T	0.15718	2.4	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.08846	0.0219	N	0.03281	-0.365	0.80722	D	1	B;B	0.23128	0.003;0.08	B;B	0.29440	0.001;0.102	T	0.11567	-1.0582	10	0.02654	T	1	.	18.8382	0.92171	0.0:0.0:1.0:0.0	.	21;230	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	P	230;21;36	ENSP00000320081:A230P	ENSP00000320081:A230P	A	+	1	0	C3orf58	145187105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.461000	0.83175	0.655000	0.94253	GCA		0.383	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		C	143704415	G	C	143704415	3	2	185	1	0	0	0	0	1	0	0	0	2236	1319	46	3	728	3	C3orf58	3	143704415	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	79619023	143704415	54318015	28	10494											
CPN2	1370	genome.wustl.edu	37	3	194062469	194062469	+	Silent	SNP	T	T	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr3:194062469T>C	ENST00000323830.3	-	2	1052	c.963A>G	c.(961-963)tcA>tcG	p.S321S	CPN2_ENST00000429275.1_Silent_p.S321S	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	321					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.S321S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGGCATTGTATGAGAGCATGA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	3											50	46	47					3																	194062469		2203	4300	6503	195544164	SO:0001819	synonymous_variant	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.963A>G	3.37:g.194062469T>C			195544164	B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	CCDS33920.1																																																																																				0.587	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		C	194062469	T	C	194062469	2	2	185	1	0	0	0	0	0	0	0	1	3810	1451	51	4		4	CPN2	3	194062469	Silent	SNP	T	TCGA-23-1117-01A-02W-0488-09	50358054	194062469	3959961	29	10495											
NUP54	53371	genome.wustl.edu	37	4	77051836	77051836	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr4:77051836C>T	ENST00000264883.3	-	8	1169	c.1029G>A	c.(1027-1029)atG>atA	p.M343I	NUP54_ENST00000342467.6_Missense_Mutation_p.M163I|NUP54_ENST00000514987.1_Missense_Mutation_p.M295I|NUP54_ENST00000458189.2_Missense_Mutation_p.M163I	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	343	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.M343I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						GCTGCTTAGTCATCTGATCTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											95	76	82					4																	77051836		2203	4300	6503	77270860	SO:0001583	missense	53371			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1029G>A	4.37:g.77051836C>T	ENSP00000264883:p.Met343Ile		77270860	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788825	0.90367	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	L	0.54323	1.7	0.80722	D	1	P;P;P	0.48694	0.719;0.914;0.6	B;P;B	0.48425	0.308;0.577;0.308	T	0.56571	-0.7957	9	0.22109	T	0.4	-17.6058	19.5275	0.95212	0.0:1.0:0.0:0.0	.	295;163;343	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	I	343;163;295;163	.	ENSP00000264883:M343I	M	-	3	0	NUP54	77270860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.402000	0.79972	2.616000	0.88540	0.563000	0.77884	ATG		0.383	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			T	77051836	C	T	77051836	3	4	185	1	0	0	0	0	1	0	0	0	10767	826	29	2	514	2	NUP54	4	77051836	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09		77051836	114102440	30	10496											
MTTP	4547	genome.wustl.edu	37	4	100543935	100543935	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr4:100543935A>T	ENST00000265517.5	+	18	2818	c.2615A>T	c.(2614-2616)cAa>cTa	p.Q872L	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.Q872L|MTTP_ENST00000511045.1_Missense_Mutation_p.Q899L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	872					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.Q872L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CCGCTCCATCAAGAGAACTCA	0.433																																																1	Substitution - Missense(1)	ovary(1)	4											162	159	160					4																	100543935		2203	4300	6503	100762958	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2615A>T	4.37:g.100543935A>T	ENSP00000265517:p.Gln872Leu		100762958	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	A	31	5.098753	0.94197	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.67345	-0.26;-0.24;-0.24	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.78314	0.889;0.991	T	0.82697	-0.0329	10	0.66056	D	0.02	-19.5906	16.4795	0.84153	1.0:0.0:0.0:0.0	.	899;872	E9PBP6;P55157	.;MTP_HUMAN	L	899;872;872	ENSP00000427679:Q899L;ENSP00000400821:Q872L;ENSP00000265517:Q872L	ENSP00000265517:Q872L	Q	+	2	0	MTTP	100762958	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.764000	0.74960	2.367000	0.80283	0.528000	0.53228	CAA		0.433	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			T	100543935	A	T	100543935	3	4	185	1	0	0	0	0	1	0	0	0	9964	130	5	5	2685	5	MTTP	4	100543935	Missense_Mutation	SNP	A	TCGA-23-1117-01A-02W-0488-09	23492099	100543935	90610341	31	10497											
TRPC3	7222	genome.wustl.edu	37	4	122824122	122824122	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr4:122824122A>G	ENST00000379645.3	-	9	2421	c.2348T>C	c.(2347-2349)gTt>gCt	p.V783A	TRPC3_ENST00000513531.1_Missense_Mutation_p.V655A|TRPC3_ENST00000264811.5_Missense_Mutation_p.V710A	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	698	Binds to IP3R3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.V710A(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGACTAGGAACTAGACTGAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	4											113	110	111					4																	122824122		2203	4300	6503	123043572	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2348T>C	4.37:g.122824122A>G	ENSP00000368966:p.Val783Ala		123043572	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.635980	0.87760	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.85088	-1.94;-1.94;-1.94	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000002	D	0.87180	0.6113	M	0.80746	2.51	0.58432	D	0.999999	P;P;P	0.37233	0.588;0.588;0.588	B;B;B	0.38880	0.206;0.284;0.269	D	0.88543	0.3111	10	0.87932	D	0	-11.259	16.0985	0.81148	1.0:0.0:0.0:0.0	.	698;655;783	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	A	710;783;655	ENSP00000264811:V710A;ENSP00000368966:V783A;ENSP00000426899:V655A	ENSP00000264811:V710A	V	-	2	0	TRPC3	123043572	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.197000	0.70478	0.455000	0.32223	GTT		0.373	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		G	122824122	A	G	122824122	3	3	185	1	0	0	0	0	1	0	0	0	16579	43	2	4	433	4	TRPC3	4	122824122	Missense_Mutation	SNP	A	TCGA-23-1117-01A-02W-0488-09	22280187	122824122	68330154	32	10498											
DCLK2	166614	genome.wustl.edu	37	4	151168756	151168756	+	Splice_Site	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	A	G	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr4:151168756G>A	ENST00000296550.7	+	13	2534	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	DCLK2_ENST00000506325.1_Splice_Site_p.E593K|DCLK2_ENST00000302176.8_Splice_Site_p.E611K	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	594	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E594K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTGGCTTAGTGAGAACAATCT	0.488																																					GBM(195;186 2215 13375 16801 37459)											1	Substitution - Missense(1)	ovary(1)	4											64	67	66					4																	151168756		2203	4300	6503	151388206	SO:0001630	splice_region_variant	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1779-1G>A	4.37:g.151168756G>A			151388206	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862479	0.91511	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.65364	-0.15;-0.15;-0.15	6.03	5.18	0.71444	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	0.66386	0.2784	N	0.17631	0.505	0.58432	D	0.999999	P;D;B	0.71674	0.868;0.998;0.082	P;D;B	0.78314	0.511;0.991;0.166	T	0.67803	-0.5576	10	0.39692	T	0.17	.	15.0435	0.71811	0.0676:0.0:0.9324:0.0	.	611;593;594	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	K	594;593;611	ENSP00000296550:E594K;ENSP00000427235:E593K;ENSP00000303887:E611K	ENSP00000296550:E594K	E	+	1	0	DCLK2	151388206	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	9.229000	0.95273	1.551000	0.49450	0.655000	0.94253	GAG		0.488	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	Missense_Mutation	A	151168756	G	A	151168756	5	1	185	1	0	0	0	0	0	0	1	0	4292	1304	45	2	1830	2	DCLK2	4	151168756	Splice_Site	SNP	G	TCGA-23-1117-01A-02W-0488-09	28344634	151168756	39985520	33	10499											
AGXT2	64902	genome.wustl.edu	37	5	35035363	35035363	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr5:35035363C>G	ENST00000231420.6	-	5	745	c.545G>C	c.(544-546)aGg>aCg	p.R182T	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	182					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.R182T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TGAGTGCGCCCTGGCCATCAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	5											134	143	140					5																	35035363		2203	4300	6503	35071120	SO:0001583	missense	64902			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.545G>C	5.37:g.35035363C>G	ENSP00000231420:p.Arg182Thr		35071120	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494928	0.85069	.	.	ENSG00000113492	ENST00000231420	T	0.27402	1.67	6.06	6.06	0.98353	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.63931	0.2553	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.66536	-0.5899	10	0.87932	D	0	-2.0862	20.6282	0.99521	0.0:1.0:0.0:0.0	.	90;182;182	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	T	182	ENSP00000231420:R182T	ENSP00000231420:R182T	R	-	2	0	AGXT2	35071120	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.250000	0.78287	2.871000	0.98454	0.655000	0.94253	AGG		0.443	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		G	35035363	C	G	35035363	3	3	185	1	0	0	0	0	1	0	0	0	405	681	24	3	1039	3	AGXT2	5	35035363	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09		35035363	145879897	34	10500											
AQPEP	206338	genome.wustl.edu	37	5	115323552	115323552	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr5:115323552G>T	ENST00000357872.4	+	4	1145	c.1021G>T	c.(1021-1023)Gca>Tca	p.A341S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		341						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A341S(1)									AAATGGAAGTGCAGACTTTGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	5											183	170	174					5																	115323552		2202	4300	6502	115351451	SO:0001583	missense	206338																														ENST00000357872.4:c.1021G>T	5.37:g.115323552G>T	ENSP00000350541:p.Ala341Ser		115351451	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271839	0.23221	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06218	3.33	5.14	3.3	0.37823	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.379490	0.24105	N	0.041511	T	0.09642	0.0237	L	0.54908	1.71	0.80722	D	1	P	0.39883	0.693	P	0.44990	0.466	T	0.18461	-1.0336	10	0.30078	T	0.28	.	8.8884	0.35418	0.0805:0.0:0.7669:0.1527	.	341	Q6Q4G3	AMPQ_HUMAN	S	341;330	ENSP00000350541:A341S	ENSP00000350541:A341S	A	+	1	0	AC010282.1	115351451	1.000000	0.71417	0.158000	0.22627	0.080000	0.17528	4.711000	0.61881	0.509000	0.28195	-0.217000	0.12591	GCA		0.393	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			T	115323552	G	T	115323552	3	4	185	1	0	0	0	0	1	0	0	0	834	1319	46	3	1035	3	AQPEP	5	115323552	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	80288189	115323552	65591708	35	10501											
SEMA6A	57556	genome.wustl.edu	37	5	115827448	115827448	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr5:115827448C>T	ENST00000343348.6	-	7	1310	c.523G>A	c.(523-525)Gca>Aca	p.A175T	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A175T|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A175T|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	175	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.A175T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCAAACAGTGCAACGTTGGCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	5											130	132	132					5																	115827448		2004	4171	6175	115855347	SO:0001583	missense	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.523G>A	5.37:g.115827448C>T	ENSP00000345512:p.Ala175Thr		115855347	Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295220	0.95574	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.11277	2.79;2.79;2.79	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.25984	-1.0116	10	0.87932	D	0	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	175;175	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	T	175	ENSP00000345512:A175T;ENSP00000257414:A175T;ENSP00000424388:A175T	ENSP00000257414:A175T	A	-	1	0	SEMA6A	115855347	1.000000	0.71417	0.936000	0.37596	0.645000	0.38454	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GCA		0.448	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		T	115827448	C	T	115827448	3	4	185	1	0	0	0	0	1	0	0	0	14042	710	25	2	2621	2	SEMA6A	5	115827448	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	503896	115827448	65087812	36	10502											
PCDHGB4	8641	genome.wustl.edu	37	5	140768891	140768891	+	Silent	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr5:140768891G>T	ENST00000519479.1	+	1	1440	c.1440G>T	c.(1438-1440)ggG>ggT	p.G480G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACTTGGGGCCCAACGGCC	0.577																																																0			5											68	77	74					5																	140768891		1960	4133	6093	140749075	SO:0001819	synonymous_variant	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1440G>T	5.37:g.140768891G>T			140749075	O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	CCDS54928.1																																																																																				0.577	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		T	140768891	G	T	140768891	2	4	185	1	0	0	0	0	0	0	0	1	11565	1190	42	3		3	PCDHGB4	5	140768891	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	24941443	140768891	40146369	37	10503											
CCDC69	26112	genome.wustl.edu	37	5	150581211	150581211	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr5:150581211G>C	ENST00000355417.2	-	3	337	c.163C>G	c.(163-165)Cgg>Ggg	p.R55G	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	55								p.R55G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTGGTGCCGCTCAGCCTCC	0.448																																																1	Substitution - Missense(1)	ovary(1)	5											160	143	149					5																	150581211		2203	4300	6503	150561404	SO:0001583	missense	26112				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.163C>G	5.37:g.150581211G>C	ENSP00000347586:p.Arg55Gly		150561404	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753024	0.31046	.	.	ENSG00000198624	ENST00000355417	T	0.23552	1.9	4.0	4.0	0.46444	.	0.987391	0.08243	N	0.975854	T	0.16085	0.0387	N	0.08118	0	0.24529	N	0.994125	B	0.22146	0.065	B	0.19666	0.026	T	0.10064	-1.0646	10	0.51188	T	0.08	-12.4226	11.8141	0.52199	0.0:0.0:1.0:0.0	.	55	A6NI79	CCD69_HUMAN	G	55	ENSP00000347586:R55G	ENSP00000347586:R55G	R	-	1	2	CCDC69	150561404	0.967000	0.33354	0.213000	0.23690	0.031000	0.12232	1.104000	0.31074	2.220000	0.72140	0.655000	0.94253	CGG		0.448	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		C	150581211	G	C	150581211	3	2	185	1	0	0	0	0	1	0	0	0	2841	1086	38	3	755	3	CCDC69	5	150581211	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	9812320	150581211	30334049	38	10504											
FAM153B	202134	genome.wustl.edu	37	5	175520250	175520250	+	Silent	SNP	A	A	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr5:175520250A>T	ENST00000253490.4	+	5	369	c.312A>T	c.(310-312)acA>acT	p.T104T	FAM153B_ENST00000510151.1_Silent_p.T27T|FAM153B_ENST00000512862.1_Silent_p.T27T|FAM153B_ENST00000515817.1_Silent_p.T27T			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	104								p.T104T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TATACAGCACATGGAAGAAGT	0.468																																																1	Substitution - coding silent(1)	ovary(1)	5											59	52	55					5																	175520250		2092	3608	5700	175452856	SO:0001819	synonymous_variant	202134			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.312A>T	5.37:g.175520250A>T			175452856	A8MTI1	Silent	SNP	ENST00000253490.4	37																																																																																					0.468	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		T	175520250	A	T	175520250	2	4	185	1	0	0	0	0	0	0	0	1	5461	204	8	5		5	FAM153B	5	175520250	Silent	SNP	A	TCGA-23-1117-01A-02W-0488-09	24939039	175520250	5395010	39	10505											
UIMC1	51720	genome.wustl.edu	37	5	176396700	176396700	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr5:176396700C>T	ENST00000377227.4	-	5	497	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	UIMC1_ENST00000377219.2_Missense_Mutation_p.R122Q|UIMC1_ENST00000511320.1_Missense_Mutation_p.R122Q|UIMC1_ENST00000506128.1_Missense_Mutation_p.R122Q|UIMC1_ENST00000503273.1_5'Flank			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	122	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.R122Q(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCAGAAGGCCGGCAACTCTG	0.498																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	5											103	99	100					5																	176396700		2203	4300	6503	176329306	SO:0001583	missense	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.365G>A	5.37:g.176396700C>T	ENSP00000366434:p.Arg122Gln		176329306	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042222	0.19748	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000509236	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.64	2.47	0.30058	Ubiquitin interacting motif (1);	0.486110	0.19314	N	0.117319	T	0.16471	0.0396	N	0.19112	0.55	0.46542	D	0.999096	B	0.21147	0.052	B	0.08055	0.003	T	0.06625	-1.0816	10	0.26408	T	0.33	0.0817	7.2125	0.25941	0.0:0.6133:0.0:0.3867	.	122	Q96RL1	UIMC1_HUMAN	Q	122;122;122;122;44;122	ENSP00000366434:R122Q;ENSP00000366425:R122Q;ENSP00000421926:R122Q;ENSP00000427480:R122Q;ENSP00000423885:R122Q	ENSP00000366425:R122Q	R	-	2	0	UIMC1	176329306	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.491000	0.22419	0.747000	0.32809	-0.258000	0.10820	CGG		0.498	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		T	176396700	C	T	176396700	3	4	185	1	0	0	0	0	1	0	0	0	16971	652	23	1	1838	1	UIMC1	5	176396700	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	876450	176396700	4518560	40	10506											
HIST1H2BD	3017	genome.wustl.edu	37	6	26158751	26158751	+	Silent	SNP	C	C	G	rs541069056		TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr6:26158751C>G	ENST00000289316.2	+	1	378	c.354C>G	c.(352-354)gcC>gcG	p.A118A	HIST1H2BD_ENST00000377777.4_Silent_p.A118A	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	118					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A118A(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCACCAAGGCCGTCACCAAGT	0.547													C|||	1	0.000199681	0	0	5008	,	,		19344	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	6											70	76	74					6																	26158751		2203	4300	6503	26266730	SO:0001819	synonymous_variant	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.354C>G	6.37:g.26158751C>G			26266730		Silent	SNP	ENST00000289316.2	37	CCDS4587.1																																																																																				0.547	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		G	26158751	C	G	26158751	2	3	185	1	0	0	0	0	0	0	0	1	7143	639	23	3		3	HIST1H2BD	6	26158751	Silent	SNP	C	TCGA-23-1117-01A-02W-0488-09		26158751	144956316	41	10507											
PPP1R10	5514	genome.wustl.edu	37	6	30572486	30572486	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr6:30572486G>T	ENST00000376511.2	-	12	1533	c.981C>A	c.(979-981)agC>agA	p.S327R		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	327	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.S327R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTGGTTCTGTGCTCGTTTTCC	0.537																																																1	Substitution - Missense(1)	ovary(1)	6											304	296	299					6																	30572486		1511	2709	4220	30680465	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.981C>A	6.37:g.30572486G>T	ENSP00000365694:p.Ser327Arg		30680465	O00405	Missense_Mutation	SNP	ENST00000376511.2	37	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504392	0.26949	.	.	ENSG00000204569	ENST00000376511	T	0.47177	0.85	5.46	4.59	0.56863	.	0.499688	0.23801	N	0.044422	T	0.12263	0.0298	N	0.08118	0	0.37095	D	0.8996	B	0.33694	0.421	B	0.29942	0.109	T	0.06789	-1.0807	10	0.42905	T	0.14	-14.4655	9.3405	0.38076	0.1647:0.0:0.8353:0.0	.	327	Q96QC0	PP1RA_HUMAN	R	327	ENSP00000365694:S327R	ENSP00000365694:S327R	S	-	3	2	PPP1R10	30680465	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.158000	0.31737	1.308000	0.44962	0.655000	0.94253	AGC		0.537	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		T	30572486	G	T	30572486	3	4	185	1	0	0	0	0	1	0	0	0	12355	1310	46	3	1877	3	PPP1R10	6	30572486	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	4413735	30572486	140542581	42	10508											
RIMS1	22999	genome.wustl.edu	37	6	72968728	72968728	+	Silent	SNP	T	T	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr6:72968728T>C	ENST00000521978.1	+	18	2967	c.2967T>C	c.(2965-2967)tcT>tcC	p.S989S	RIMS1_ENST00000517827.1_Silent_p.S448S|RIMS1_ENST00000401910.3_Silent_p.S462S|RIMS1_ENST00000522291.1_Silent_p.S988S|RIMS1_ENST00000264839.7_Silent_p.S989S|RIMS1_ENST00000523963.1_Silent_p.S463S|RIMS1_ENST00000520567.1_Silent_p.S988S|RIMS1_ENST00000491071.2_Silent_p.S989S|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000348717.5_Silent_p.S988S|RIMS1_ENST00000517960.1_Silent_p.S988S|RIMS1_ENST00000425662.2_Silent_p.S382S|RIMS1_ENST00000518273.1_Silent_p.S989S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	989					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.S989S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGTCACGTTCTCCAACCAGAC	0.378																																																1	Substitution - coding silent(1)	ovary(1)	6											138	138	138					6																	72968728		1943	4127	6070	73025449	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2967T>C	6.37:g.72968728T>C			73025449	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.30|10.30	1.312011|1.312011	0.23821|0.23821	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|T	.|0.15718	.|2.4	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.23688|0.23688	0.0573|0.0573	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.00538|0.00538	-1.1682|-1.1682	4|7	.|0.46703	.|T	.|0.11	-13.104|-13.104	15.7332|15.7332	0.77822|0.77822	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	P|P	80|563	.|ENSP00000430359:S563P	.|ENSP00000430359:S563P	L|S	+|+	2|1	0|0	RIMS1|RIMS1	73025449|73025449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.150000|4.150000	0.58098|0.58098	2.182000|2.182000	0.69389|0.69389	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.378	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			C	72968728	T	C	72968728	2	2	185	1	0	0	0	0	0	0	0	1	13370	1538	54	4		4	RIMS1	6	72968728	Silent	SNP	T	TCGA-23-1117-01A-02W-0488-09	42396242	72968728	98146339	43	10509											
C6orf182	285753	genome.wustl.edu	37	6	109480666	109480666	+	Splice_Site	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr6:109480666G>A	ENST00000517392.1	+	9	1442		c.e9+1		CEP57L1_ENST00000523787.1_Splice_Site|CEP57L1_ENST00000520883.1_Splice_Site|CEP57L1_ENST00000407272.1_Splice_Site|CEP57L1_ENST00000336977.4_Splice_Site|CEP57L1_ENST00000359793.3_Splice_Site|CEP57L1_ENST00000521522.1_Splice_Site|CEP57L1_ENST00000368968.2_Splice_Site|CEP57L1_ENST00000368970.2_Splice_Site	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1						microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAATGAGCATGTAAGTATTTA	0.413																																																1	Unknown(1)	ovary(1)	6											48	50	49					6																	109480666		2203	4299	6502	109587359	SO:0001630	splice_region_variant	285753			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1016+1G>A	6.37:g.109480666G>A			109587359	G5E992	Splice_Site	SNP	ENST00000517392.1	37	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626609	0.28978	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368968;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793;ENST00000523174	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4538	0.87600	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP57L1	109587359	1.000000	0.71417	0.988000	0.46212	0.109000	0.19521	7.208000	0.77907	2.427000	0.82271	0.650000	0.86243	.		0.413	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830	Intron	A	109480666	G	A	109480666	5	1	185	1	0	0	0	0	0	0	1	0	2346	1391	48	2	1047	2	C6orf182	6	109480666	Splice_Site	SNP	G	TCGA-23-1117-01A-02W-0488-09	36511938	109480666	61634401	44	10510											
CUX1	1523	genome.wustl.edu	37	7	101840497	101840497	+	Silent	SNP	T	T	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr7:101840497T>G	ENST00000292535.7	+	15	1844	c.1806T>G	c.(1804-1806)cgT>cgG	p.R602R	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Silent_p.R602R|CUX1_ENST00000556210.1_Silent_p.R500R|CUX1_ENST00000546411.2_Silent_p.R500R|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Silent_p.R602R|CUX1_ENST00000360264.3_Silent_p.R613R	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	602					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R602R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGACTGTTCGTGGCAAGGAGC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	7											81	76	78					7																	101840497		2203	4300	6503	101627217	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1806T>G	7.37:g.101840497T>G			101627217	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	CCDS5721.1																																																																																				0.522	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		G	101840497	T	G	101840497	2	3	185	1	0	0	0	0	0	0	0	1	4064	1683	59	5		5	CUX1	7	101840497	Silent	SNP	T	TCGA-23-1117-01A-02W-0488-09		101840497	57298166	45	10511											
FLNC	2318	genome.wustl.edu	37	7	128484288	128484288	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr7:128484288G>T	ENST00000325888.8	+	20	3421	c.3160G>T	c.(3160-3162)Gtg>Ttg	p.V1054L	FLNC_ENST00000346177.6_Missense_Mutation_p.V1054L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1054					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.V1054L(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCGTTTGCTGTGGAGGGTGT	0.617																																																1	Substitution - Missense(1)	ovary(1)	7											26	30	29					7																	128484288		2028	4170	6198	128271524	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3160G>T	7.37:g.128484288G>T	ENSP00000327145:p.Val1054Leu		128271524	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727620	0.48833	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.92647	-3.08;-2.94	5.05	5.05	0.67936	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	L	0.52266	1.64	0.50171	D	0.999857	B;B	0.14438	0.01;0.001	B;B	0.26416	0.069;0.007	D	0.86897	0.2052	10	0.36615	T	0.2	.	18.4021	0.90520	0.0:0.0:1.0:0.0	.	1054;1054	Q14315-2;Q14315	.;FLNC_HUMAN	L	1054	ENSP00000327145:V1054L;ENSP00000344002:V1054L	ENSP00000327145:V1054L	V	+	1	0	FLNC	128271524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.782000	0.75073	2.346000	0.79739	0.484000	0.47621	GTG		0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128484288	G	T	128484288	3	4	185	1	0	0	0	0	1	0	0	0	5935	1377	48	3	3238	3	FLNC	7	128484288	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	26643791	128484288	30654375	46	10512											
TSGA13	114960	genome.wustl.edu	37	7	130357608	130357608	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr7:130357608C>T	ENST00000456951.1	-	7	1347	c.496G>A	c.(496-498)Gat>Aat	p.D166N	TSGA13_ENST00000356588.3_Missense_Mutation_p.D166N			Q96PP4	TSG13_HUMAN	testis specific, 13	166								p.D166N(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GTGGGATCATCCGACAGTATC	0.433																																																1	Substitution - Missense(1)	ovary(1)	7											193	181	185					7																	130357608		2203	4300	6503	130008148	SO:0001583	missense	114960			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.496G>A	7.37:g.130357608C>T	ENSP00000406047:p.Asp166Asn		130008148	B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164185	0.57476	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.52	3.68	0.42216	.	1.360770	0.04761	N	0.426324	T	0.28034	0.0691	N	0.19112	0.55	0.09310	N	1	P	0.36535	0.557	B	0.35971	0.215	T	0.27191	-1.0081	9	0.52906	T	0.07	-0.0326	9.1369	0.36879	0.0:0.8214:0.0:0.1786	.	166	Q96PP4	TSG13_HUMAN	N	166	.	ENSP00000348996:D166N	D	-	1	0	TSGA13	130008148	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.415000	0.21181	1.455000	0.47813	-0.150000	0.13652	GAT		0.433	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		T	130357608	C	T	130357608	3	4	185	1	0	0	0	0	1	0	0	0	16619	855	30	2	343	2	TSGA13	7	130357608	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	1873320	130357608	28781055	47	10513											
GALNTL5	168391	genome.wustl.edu	37	7	151716755	151716755	+	Missense_Mutation	SNP	G	G	A	rs150782880	byFrequency	TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr7:151716755G>A	ENST00000392800.2	+	9	1455	c.1201G>A	c.(1201-1203)Ggt>Agt	p.G401S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G401S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	401					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.G401S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TCGAAAGCCTGGTCTGAAATA	0.378													G|||	5	0.000998403	0.0038	0	5008	,	,		18963	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7						G	SER/GLY	29,4377	35.2+/-66.4	0,29,2174	98	97	97		1201	-4	0	7	dbSNP_134	97	0,8600		0,0,4300	yes	missense	GALNTL5	NM_145292.3	56	0,29,6474	AA,AG,GG		0.0,0.6582,0.223	benign	401/444	151716755	29,12977	2203	4300	6503	151347688	SO:0001583	missense	168391			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1201G>A	7.37:g.151716755G>A	ENSP00000376548:p.Gly401Ser		151347688	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.321	0.427252	0.11987	0.006582	0.0	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.68181	-0.31;-0.31	4.91	-3.99	0.04069	.	1.368850	0.04740	N	0.422679	T	0.36193	0.0958	N	0.17674	0.51	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.13407	0.005;0.009	T	0.12372	-1.0550	10	0.39692	T	0.17	.	1.4341	0.02339	0.4105:0.1157:0.3072:0.1666	.	152;401	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	S	401	ENSP00000392582:G401S;ENSP00000376548:G401S	ENSP00000376548:G401S	G	+	1	0	GALNTL5	151347688	0.218000	0.23608	0.000000	0.03702	0.001000	0.01503	0.491000	0.22419	-0.747000	0.04759	-0.965000	0.02619	GGT		0.378	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		A	151716755	G	A	151716755	3	1	185	1	0	0	0	0	1	0	0	0	6224	1348	47	2	1231	2	GALNTL5	7	151716755	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	21359147	151716755	7421908	48	10514											
NRG1	3084	genome.wustl.edu	37	8	32505637	32505637	+	Intron	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr8:32505637G>T	ENST00000405005.3	+	5	502				NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.W134L|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCAGCTGTGTGGGTGTCGTCT	0.498																																																0			8											139	122	128					8																	32505637		2203	4300	6503	32625179	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31234G>T	8.37:g.32505637G>T			32625179	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	0.369	-0.935150	0.02340	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	6.07	4.22	0.49857	.	.	.	.	.	T	0.35098	0.0920	N	0.12746	0.255	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.003	T	0.23404	-1.0189	8	0.02654	T	1	.	14.0757	0.64889	0.0:0.0:0.5921:0.4078	.	134;134	Q53F54;Q02297-10	.;.	L	134;94	.	ENSP00000433289:W134L	W	+	2	0	NRG1	32625179	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.030000	0.49720	0.820000	0.34516	0.655000	0.94253	TGG		0.498	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			T	32505637	G	T	32505637	1	4	185	0	1	0	0	0	0	0	0	0	10647	1357	47	3		3	NRG1	8	32505637	Intron	SNP	G	TCGA-23-1117-01A-02W-0488-09		32505637	113858385	49	10515											
SNAI2	6591	genome.wustl.edu	37	8	49831546	49831546	+	Splice_Site	SNP	C	C	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr8:49831546C>A	ENST00000396822.1	-	4	984	c.627G>T	c.(625-627)ggG>ggT	p.G209G	SNAI2_ENST00000020945.1_Splice_Site_p.G209G			O43623	SNAI2_HUMAN	snail family zinc finger 2	209					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.G209G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AAGGCTTCTCCCCTGGGGGTG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	8											59	60	60					8																	49831546		2203	4300	6503	49994099	SO:0001630	splice_region_variant	6591			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.626-1G>T	8.37:g.49831546C>A			49994099	B2R6P6|Q53FC1	Silent	SNP	ENST00000396822.1	37	CCDS6146.1																																																																																				0.408	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068	Silent	A	49831546	C	A	49831546	5	1	185	1	0	0	0	0	0	0	1	0	14830	637	22	3	183	3	SNAI2	8	49831546	Splice_Site	SNP	C	TCGA-23-1117-01A-02W-0488-09	17325909	49831546	96532476	50	10516											
SLC25A32	81034	genome.wustl.edu	37	8	104419864	104419864	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr8:104419864G>T	ENST00000297578.4	-	2	469	c.303C>A	c.(301-303)ttC>ttA	p.F101L	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	101					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)	p.F101L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CTACTCACAAGAAAAAGTAGA	0.348																																																1	Substitution - Missense(1)	ovary(1)	8											94	98	96					8																	104419864		2203	4300	6503	104489040	SO:0001583	missense	81034			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.303C>A	8.37:g.104419864G>T	ENSP00000297578:p.Phe101Leu		104489040	Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942654	0.34283	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	T	0.78481	-1.18	6.05	3.34	0.38264	Mitochondrial carrier domain (2);	0.093429	0.85682	N	0.000000	T	0.55878	0.1948	N	0.10707	0.03	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.38757	-0.9646	10	0.16420	T	0.52	-22.8482	10.8297	0.46652	0.2564:0.0:0.7436:0.0	.	101	Q9H2D1	MFTC_HUMAN	L	101;85	ENSP00000297578:F101L	ENSP00000297578:F101L	F	-	3	2	SLC25A32	104489040	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.405000	0.52630	0.469000	0.27268	-0.142000	0.14014	TTC		0.348	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		T	104419864	G	T	104419864	3	4	185	1	0	0	0	0	1	0	0	0	14499	933	33	3	668	3	SLC25A32	8	104419864	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	54588318	104419864	41944158	51	10517											
SLC24A2	25769	genome.wustl.edu	37	9	19550152	19550152	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr9:19550152G>T	ENST00000341998.2	-	7	1523	c.1462C>A	c.(1462-1464)Cct>Act	p.P488T	SLC24A2_ENST00000286344.3_Missense_Mutation_p.P471T	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	488					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.P488T(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CGAACGTCAGGTAACGTAATC	0.438																																																1	Substitution - Missense(1)	ovary(1)	9											114	107	109					9																	19550152		2203	4300	6503	19540152	SO:0001583	missense	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1462C>A	9.37:g.19550152G>T	ENSP00000344801:p.Pro488Thr		19540152	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436608	0.62955	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	D;D	0.81499	-1.5;-1.5	5.38	3.5	0.40072	.	0.171467	0.53938	D	0.000060	D	0.92107	0.7498	H	0.96833	3.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.92220	0.5783	9	.	.	.	.	10.138	0.42719	0.0762:0.1376:0.7863:0.0	.	471;488	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	T	488;471	ENSP00000344801:P488T;ENSP00000286344:P471T	.	P	-	1	0	SLC24A2	19540152	1.000000	0.71417	0.900000	0.35374	0.943000	0.58893	7.883000	0.87264	0.718000	0.32166	0.655000	0.94253	CCT		0.438	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		T	19550152	G	T	19550152	3	4	185	1	0	0	0	0	1	0	0	0	14469	1261	44	3	539	3	SLC24A2	9	19550152	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09		19550152	121663279	52	10518											
COL15A1	1306	genome.wustl.edu	37	9	101810247	101810247	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr9:101810247A>C	ENST00000375001.3	+	28	3181	c.2758A>C	c.(2758-2760)Aag>Cag	p.K920Q		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	920	Collagen-like 4.|Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.K920Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAATGGCCTCAAGGGTACCAA	0.622																																																1	Substitution - Missense(1)	ovary(1)	9											58	50	53					9																	101810247		2202	4300	6502	100850068	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2758A>C	9.37:g.101810247A>C	ENSP00000364140:p.Lys920Gln		100850068	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368149	0.42003	.	.	ENSG00000204291	ENST00000375001	D	0.91464	-2.85	5.95	5.95	0.96441	C-type lectin fold (1);	0.110211	0.64402	D	0.000012	D	0.93403	0.7896	M	0.62016	1.91	0.43771	D	0.996292	D	0.89917	1.0	D	0.87578	0.998	D	0.91163	0.4962	10	0.17832	T	0.49	-19.8028	12.8155	0.57663	1.0:0.0:0.0:0.0	.	920	P39059	COFA1_HUMAN	Q	920	ENSP00000364140:K920Q	ENSP00000364140:K920Q	K	+	1	0	COL15A1	100850068	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	5.842000	0.69417	2.279000	0.76181	0.533000	0.62120	AAG		0.622	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		C	101810247	A	C	101810247	3	2	185	1	0	0	0	0	1	0	0	0	3672	131	5	5	2868	5	COL15A1	9	101810247	Missense_Mutation	SNP	A	TCGA-23-1117-01A-02W-0488-09	82260095	101810247	39403184	53	10519											
RNF20	56254	genome.wustl.edu	37	9	104312889	104312889	+	Splice_Site	SNP	T	T	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr9:104312889T>G	ENST00000389120.3	+	10	1184	c.1094T>G	c.(1093-1095)gTg>gGg	p.V365G	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	365					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V365G(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCTCCTAAGGTGGAATTGCGG	0.468																																																1	Substitution - Missense(1)	ovary(1)	9											150	146	148					9																	104312889		2203	4300	6503	103352710	SO:0001630	splice_region_variant	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1093-1T>G	9.37:g.104312889T>G			103352710	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.005499	0.54254	.	.	ENSG00000155827	ENST00000389120	T	0.32515	1.45	5.92	4.79	0.61399	.	0.301944	0.37095	N	0.002247	T	0.27384	0.0672	L	0.59436	1.845	0.80722	D	1	B	0.22003	0.063	B	0.17433	0.018	T	0.06180	-1.0841	10	0.22109	T	0.4	-23.1326	8.711	0.34385	0.0:0.1461:0.0:0.8539	.	365	Q5VTR2	BRE1A_HUMAN	G	365	ENSP00000373772:V365G	ENSP00000373772:V365G	V	+	2	0	RNF20	103352710	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.272000	0.43373	1.079000	0.41038	0.528000	0.53228	GTG		0.468	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592	Missense_Mutation	G	104312889	T	G	104312889	5	3	185	1	0	0	0	0	0	0	1	0	13476	1710	59	5	1128	5	RNF20	9	104312889	Splice_Site	SNP	T	TCGA-23-1117-01A-02W-0488-09	2502642	104312889	36900542	54	10520											
SCAI	286205	genome.wustl.edu	37	9	127828305	127828305	+	Intron	SNP	T	T	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr9:127828305T>A	ENST00000336505.6	-	3	157				SCAI_ENST00000373549.4_Missense_Mutation_p.Q44L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.Q44L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						cccttgagattgtgaatgact	0.284																																																1	Substitution - Missense(1)	ovary(1)	9											79	76	77					9																	127828305		1808	4059	5867	126868126	SO:0001627	intron_variant	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.99-10019A>T	9.37:g.127828305T>A			126868126	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	T	0.163	-1.079134	0.01903	.	.	ENSG00000173611	ENST00000373549	T	0.41758	0.99	0.502	0.502	0.16932	.	.	.	.	.	T	0.40670	0.1126	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39742	-0.9599	5	0.87932	D	0	.	.	.	.	.	44	Q8N9R8-2	.	L	44	ENSP00000362650:Q44L	ENSP00000362650:Q44L	Q	-	2	0	SCAI	126868126	0.465000	0.25815	0.428000	0.26697	0.589000	0.36550	0.479000	0.22228	0.454000	0.26884	0.102000	0.15555	CAA		0.284	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		A	127828305	T	A	127828305	1	1	185	0	1	0	0	0	0	0	0	0	13872	1812	63	5		5	SCAI	9	127828305	Intron	SNP	T	TCGA-23-1117-01A-02W-0488-09	23515416	127828305	13385126	55	10521											
EXOSC2	23404	genome.wustl.edu	37	9	133578463	133578463	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr9:133578463G>T	ENST00000372358.5	+	8	767	c.696G>T	c.(694-696)gaG>gaT	p.E232D	EXOSC2_ENST00000372351.3_Missense_Mutation_p.E202D|EXOSC2_ENST00000467138.1_3'UTR|EXOSC2_ENST00000372352.3_Missense_Mutation_p.E224D|EXOSC2_ENST00000546165.1_Missense_Mutation_p.E206D			Q13868	EXOS2_HUMAN	exosome component 2	232					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)	p.E232D(1)		breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CTGATCGAGAGGTGATATCCC	0.478																																					Pancreas(134;1683 1824 10118 27928 31640)											1	Substitution - Missense(1)	ovary(1)	9											158	144	149					9																	133578463		2203	4300	6503	132568284	SO:0001583	missense	23404			AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.696G>T	9.37:g.133578463G>T	ENSP00000361433:p.Glu232Asp		132568284	A3KFL3|B4DKK6|Q9NUY4	Missense_Mutation	SNP	ENST00000372358.5	37	CCDS6935.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186983	0.57909	.	.	ENSG00000130713	ENST00000372358;ENST00000546165;ENST00000372352;ENST00000372351;ENST00000495699	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.58969	1.84	0.80722	D	1	B;B	0.24533	0.105;0.007	B;B	0.20955	0.032;0.005	T	0.54221	-0.8326	9	0.37606	T	0.19	-38.571	11.7974	0.52108	0.0797:0.0:0.9203:0.0	.	206;232	B4DKK6;Q13868	.;EXOS2_HUMAN	D	232;206;224;202;209	.	ENSP00000361426:E202D	E	+	3	2	EXOSC2	132568284	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.759000	0.68785	2.648000	0.89879	0.650000	0.86243	GAG		0.478	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054673.1	NM_014285		T	133578463	G	T	133578463	3	4	185	1	0	0	0	0	1	0	0	0	5315	991	35	3	726	3	EXOSC2	9	133578463	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	5750158	133578463	7634968	56	10522											
C10orf68	79741	genome.wustl.edu	37	10	33000616	33000616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr10:33000616C>T	ENST00000375030.2	+	10	1090	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q150*|C10orf68_ENST00000375028.3_Nonsense_Mutation_p.Q126*			Q9H943	CJ068_HUMAN		150								p.Q150*(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AATCCAAGTGCAATTAGAGAT	0.308																																																1	Substitution - Nonsense(1)	ovary(1)	10											66	70	69					10																	33000616		2203	4296	6499	33040622	SO:0001587	stop_gained	79741																														ENST00000375030.2:c.472C>T	10.37:g.33000616C>T	ENSP00000364170:p.Gln158*		33040622	B0QZ71|Q08AN7|Q8N7T7	Nonsense_Mutation	SNP	ENST00000375030.2	37		.	.	.	.	.	.	.	.	.	.	.	14.41	2.526755	0.44969	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	2.71	0.731	0.18277	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.141	0.14959	0.2353:0.5355:0.2293:0.0	.	.	.	.	X	150;158;126;150;98	.	ENSP00000303710:Q150X	Q	+	1	0	C10orf68	33040622	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.162000	0.10012	0.181000	0.19994	0.460000	0.39030	CAA		0.308	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			T	33000616	C	T	33000616	4	4	185	1	0	0	0	0	0	1	0	0	1613	711	25	2	466	2	C10orf68	10	33000616	Nonsense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09		33000616	102534131	57	10523											
C10orf54	64115	genome.wustl.edu	37	10	73520673	73520673	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr10:73520673C>G	ENST00000394957.3	-	3	578	c.520G>C	c.(520-522)Gca>Cca	p.A174P	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	174					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.A174P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TTGGATGGTGCATCTTTGCCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	10											199	160	173					10																	73520673		2203	4300	6503	73190679	SO:0001583	missense	64115			AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.520G>C	10.37:g.73520673C>G	ENSP00000378409:p.Ala174Pro		73190679	A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216622	0.39201	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.47528	0.84	5.8	-1.02	0.10135	.	0.607155	0.18705	N	0.133476	T	0.30727	0.0774	L	0.44542	1.39	0.09310	N	1	B;B	0.20671	0.047;0.001	B;B	0.22386	0.039;0.002	T	0.18777	-1.0326	10	0.51188	T	0.08	-12.9874	1.0684	0.01616	0.1473:0.351:0.1506:0.3511	.	170;174	Q2TA85;Q9H7M9	.;GI24_HUMAN	P	174;170	ENSP00000378409:A174P	ENSP00000263569:A170P	A	-	1	0	C10orf54	73190679	0.000000	0.05858	0.014000	0.15608	0.808000	0.45660	-0.375000	0.07475	0.077000	0.16863	0.655000	0.94253	GCA		0.572	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		G	73520673	C	G	73520673	3	3	185	1	0	0	0	0	1	0	0	0	1607	710	25	3	435	3	C10orf54	10	73520673	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	40520057	73520673	62014074	58	10524											
LCOR	84458	genome.wustl.edu	37	10	98715149	98715149	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr10:98715149G>C	ENST00000371097.4	+	8	1318	c.772G>C	c.(772-774)Gtt>Ctt	p.V258L	LCOR_ENST00000356016.3_Missense_Mutation_p.V258L|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000540664.1_Missense_Mutation_p.V258L|LCOR_ENST00000371103.3_Missense_Mutation_p.V258L			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	258					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V258L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GATACCACAAGTTCGAGGAAT	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											82	84	84					10																	98715149		2203	4300	6503	98705139	SO:0001583	missense	84458				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.772G>C	10.37:g.98715149G>C	ENSP00000360138:p.Val258Leu		98705139	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	9.426	1.084224	0.20309	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	N	0.11560	0.145	0.51482	D	0.999924	P;D	0.55605	0.953;0.972	D;D	0.72625	0.952;0.978	T	0.56932	-0.7897	9	0.17832	T	0.49	-3.4284	19.1864	0.93645	0.0:0.0:1.0:0.0	.	258;258	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	L	258	.	ENSP00000348298:V258L	V	+	1	0	LCOR	98705139	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.316000	0.96319	2.606000	0.88127	0.650000	0.86243	GTT		0.423	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			C	98715149	G	C	98715149	3	2	185	1	0	0	0	0	1	0	0	0	8689	1029	36	3	782	3	LCOR	10	98715149	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	25194476	98715149	36819598	59	10525											
OR51T1	401665	genome.wustl.edu	37	11	4903876	4903876	+	Silent	SNP	A	A	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr11:4903876A>C	ENST00000322049.1	+	1	747	c.747A>C	c.(745-747)gcA>gcC	p.A249A	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.A276A|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A276A(1)|p.A249A(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACATCTGTGCAGTCACTATTT	0.488																																																2	Substitution - coding silent(2)	ovary(2)	11											104	86	92					11																	4903876		2201	4298	6499	4860452	SO:0001819	synonymous_variant	401665			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.747A>C	11.37:g.4903876A>C			4860452	Q6IFH9	Silent	SNP	ENST00000322049.1	37																																																																																					0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		C	4903876	A	C	4903876	2	2	185	1	0	0	0	0	0	0	0	1	11106	175	7	5		5	OR51T1	11	4903876	Silent	SNP	A	TCGA-23-1117-01A-02W-0488-09		4903876	130102640	60	10526											
SYT9	143425	genome.wustl.edu	37	11	7441836	7441836	+	Silent	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr11:7441836G>A	ENST00000318881.6	+	6	1674	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	479					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.K479K(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATCCTCGGAAGCCCATTGCAC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	11											168	136	147					11																	7441836		2201	4296	6497	7398412	SO:0001819	synonymous_variant	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1437G>A	11.37:g.7441836G>A			7398412		Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.502	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		A	7441836	G	A	7441836	2	1	185	1	0	0	0	0	0	0	0	1	15481	962	34	2		2	SYT9	11	7441836	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	2537960	7441836	127564680	61	10527											
MRVI1	10335	genome.wustl.edu	37	11	10651173	10651173	+	Silent	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr11:10651173C>T	ENST00000436272.1	-	4	537	c.459G>A	c.(457-459)gcG>gcA	p.A153A	MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000541483.1_Silent_p.A162A|MRVI1_ENST00000527509.2_Silent_p.A71A|MRVI1_ENST00000531107.1_Silent_p.A153A|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000423302.2_Silent_p.A162A|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000532037.1_5'Flank|MRVI1_ENST00000421747.1_Silent_p.A153A|MRVI1_ENST00000547195.1_Silent_p.A71A|MRVI1_ENST00000552103.1_Silent_p.A71A			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	153	Interaction with PRKG1. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.A153A(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTTCCAGCAGCGCCAGGTTTT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	11											78	84	82					11																	10651173		2060	4192	6252	10607749	SO:0001819	synonymous_variant	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.459G>A	11.37:g.10651173C>T			10607749	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37																																																																																					0.592	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		T	10651173	C	T	10651173	2	4	185	1	0	0	0	0	0	0	0	1	9853	755	27	1		1	MRVI1	11	10651173	Silent	SNP	C	TCGA-23-1117-01A-02W-0488-09	3209337	10651173	124355343	62	10528											
OR5M1	390168	genome.wustl.edu	37	11	56380397	56380397	+	Silent	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr11:56380397G>C	ENST00000526538.1	-	1	581	c.582C>G	c.(580-582)gtC>gtG	p.V194V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V194V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CCATCTTTTTGACACGGGTGT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	11											57	54	55					11																	56380397		1887	4111	5998	56136973	SO:0001819	synonymous_variant	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.582C>G	11.37:g.56380397G>C			56136973	Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	CCDS53631.1																																																																																				0.433	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		C	56380397	G	C	56380397	2	2	185	1	0	0	0	0	0	0	0	1	11172	1277	45	3		3	OR5M1	11	56380397	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	45729224	56380397	78626119	63	10529											
MS4A2	2206	genome.wustl.edu	37	11	59863107	59863107	+	Missense_Mutation	SNP	T	T	C	rs370005134		TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr11:59863107T>C	ENST00000278888.3	+	7	815	c.713T>C	c.(712-714)aTg>aCg	p.M238T		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	238					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.M238T(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CCAGGGGAAATGTCTCCTCCC	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											117	114	115					11																	59863107		2201	4295	6496	59619683	SO:0001583	missense	2206			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.713T>C	11.37:g.59863107T>C	ENSP00000278888:p.Met238Thr		59619683	Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	T	0.108	-1.142002	0.01728	.	.	ENSG00000149534	ENST00000278888	T	0.18657	2.2	4.49	-8.99	0.00751	.	3.283390	0.00766	N	0.001160	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23404	-1.0189	10	0.07482	T	0.82	10.3495	4.3106	0.10969	0.3717:0.4306:0.0932:0.1046	.	238	Q01362	FCERB_HUMAN	T	238	ENSP00000278888:M238T	ENSP00000278888:M238T	M	+	2	0	MS4A2	59619683	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.933000	0.00687	-3.066000	0.00255	-0.327000	0.08410	ATG		0.413	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			C	59863107	T	C	59863107	3	2	185	1	0	0	0	0	1	0	0	0	9860	1464	51	4	790	4	MS4A2	11	59863107	Missense_Mutation	SNP	T	TCGA-23-1117-01A-02W-0488-09	3482710	59863107	75143409	64	10530											
BACE1	23621	genome.wustl.edu	37	11	117161212	117161212	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr11:117161212G>C	ENST00000313005.6	-	8	1716	c.1256C>G	c.(1255-1257)gCt>gGt	p.A419G	BACE1_ENST00000510630.1_Missense_Mutation_p.A294G|BACE1_ENST00000392937.6_Missense_Mutation_p.A319G|BACE1_ENST00000513780.1_Missense_Mutation_p.A394G|BACE1_ENST00000428381.2_Missense_Mutation_p.A350G|BACE1_ENST00000528053.1_Missense_Mutation_p.A385G|BACE1_ENST00000445823.2_Missense_Mutation_p.A375G	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	419					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)	p.A419G(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ACCATGGCAAGCGCTGACAGC	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											85	71	76					11																	117161212		2201	4296	6497	116666422	SO:0001583	missense	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.1256C>G	11.37:g.117161212G>C	ENSP00000318585:p.Ala419Gly		116666422	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	CCDS8383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.48|16.48	3.133942|3.133942	0.56828|0.56828	.|.	.|.	ENSG00000186318|ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823|ENST00000292095	D;D;D;D;D;D|.	0.82711|.	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64|.	5.9|5.9	5.9|5.9	0.94986|0.94986	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.234655|.	0.44902|.	D|.	0.000415|.	T|T	0.49287|0.49287	0.1548|0.1548	N|N	0.08118|0.08118	0|0	0.41433|0.41433	D|D	0.987873|0.987873	B;B;B;B;B;B|.	0.26147|.	0.001;0.008;0.0;0.143;0.004;0.082|.	B;B;B;B;B;B|.	0.31614|.	0.005;0.012;0.002;0.133;0.003;0.054|.	T|T	0.49952|0.49952	-0.8884|-0.8884	10|6	0.59425|0.31617	D|T	0.04|0.26	.|.	19.2604|19.2604	0.93966|0.93966	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	319;294;419;375;350;394|.	F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2|.	.;.;BACE1_HUMAN;.;.;.|.	G|V	419;319;385;294;350;394;375|182	ENSP00000318585:A419G;ENSP00000431848:A385G;ENSP00000422461:A294G;ENSP00000402228:A350G;ENSP00000424536:A394G;ENSP00000403685:A375G|.	ENSP00000318585:A419G|ENSP00000292095:L182V	A|L	-|-	2|1	0|0	BACE1|BACE1	116666422|116666422	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.973000|0.973000	0.67179|0.67179	5.435000|5.435000	0.66532|0.66532	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GCT|CTT		0.507	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			C	117161212	G	C	117161212	3	2	185	1	0	0	0	0	1	0	0	0	1281	971	34	3	257	3	BACE1	11	117161212	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	57298105	117161212	17845304	65	10531											
OR6X1	390260	genome.wustl.edu	37	11	123624990	123624990	+	Silent	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr11:123624990C>T	ENST00000327930.2	-	1	263	c.237G>A	c.(235-237)ctG>ctA	p.L79L		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L79L(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGTTCCTAGCAGTTTGGGGA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	11											139	134	136					11																	123624990		2202	4299	6501	123130200	SO:0001819	synonymous_variant	390260			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.237G>A	11.37:g.123624990C>T			123130200	B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	CCDS31695.1																																																																																				0.493	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		T	123624990	C	T	123624990	2	4	185	1	0	0	0	0	0	0	0	1	11212	697	25	2		2	OR6X1	11	123624990	Silent	SNP	C	TCGA-23-1117-01A-02W-0488-09	6463778	123624990	11381526	66	10532											
WNK1	65125	genome.wustl.edu	37	12	994022	994022	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr12:994022C>T	ENST00000315939.6	+	19	4695	c.4052C>T	c.(4051-4053)gCa>gTa	p.A1351V	WNK1_ENST00000537687.1_Missense_Mutation_p.A1611V|WNK1_ENST00000340908.4_Missense_Mutation_p.A944V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1104V|WNK1_ENST00000530271.2_Missense_Mutation_p.A1849V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1351					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.A1351V(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCACAGCAGCAGCCACAGCA	0.498																																					Colon(19;451 567 6672 12618 28860)											1	Substitution - Missense(1)	ovary(1)	12											90	85	87					12																	994022		2203	4300	6503	864283	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4052C>T	12.37:g.994022C>T	ENSP00000313059:p.Ala1351Val		864283	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	6.915	0.538434	0.13250	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.45	2.64	0.31445	.	0.438861	0.22158	N	0.063838	T	0.28599	0.0708	L	0.40543	1.245	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.001	B;B;B	0.12156	0.007;0.007;0.003	T	0.18871	-1.0323	10	0.42905	T	0.14	-4.4642	10.571	0.45200	0.0:0.7913:0.0:0.2087	.	1104;1104;1351	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	1104;1351;1611;524;1849;944	ENSP00000441972:A1104V;ENSP00000313059:A1351V;ENSP00000444465:A1611V;ENSP00000433548:A1849V;ENSP00000341292:A944V	ENSP00000252477:A524V	A	+	2	0	WNK1	864283	0.050000	0.20438	0.142000	0.22268	0.036000	0.12997	0.658000	0.24979	0.363000	0.24346	0.655000	0.94253	GCA		0.498	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		T	994022	C	T	994022	3	4	185	1	0	0	0	0	1	0	0	0	17377	710	25	2	5628	2	WNK1	12	994022	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09		994022	132857873	67	10533											
VWF	7450	genome.wustl.edu	37	12	6167145	6167145	+	Silent	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr12:6167145G>A	ENST00000261405.5	-	14	1853	c.1599C>T	c.(1597-1599)gaC>gaT	p.D533D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	533	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.D533D(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TAAGGAAGTCGTCGCCCTGGT	0.657																																																1	Substitution - coding silent(1)	ovary(1)	12											57	59	58					12																	6167145		2203	4300	6503	6037406	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1599C>T	12.37:g.6167145G>A			6037406	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.657	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6167145	G	A	6167145	2	1	185	1	0	0	0	0	0	0	0	1	17246	1136	40	1		1	VWF	12	6167145	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	5173123	6167145	127684750	68	10534											
PLEKHA5	54477	genome.wustl.edu	37	12	19518902	19518902	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr12:19518902C>G	ENST00000299275.6	+	24	3121	c.3115C>G	c.(3115-3117)Caa>Gaa	p.Q1039E	PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Q983E|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Q1097E|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Q1021E|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Q1102E|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Q1097E|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Q1028E|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Q797E|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Q1205E	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1039					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.Q1200E(1)|p.Q1039E(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CATCAGCCCTCAAGATGAAAC	0.313																																					Pancreas(196;329 2193 11246 14234 19524)											2	Substitution - Missense(2)	ovary(2)	12											63	58	59					12																	19518902		2203	4300	6503	19410169	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.3115C>G	12.37:g.19518902C>G	ENSP00000299275:p.Gln1039Glu		19410169	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	3.899	-0.022336	0.07634	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000538972	T;T;T;T;T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0;3.0;3.0;3.0;3.0	4.24	2.34	0.29019	.	0.924676	0.09165	N	0.839660	T	0.08313	0.0207	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.30236	0.274;0.179;0.0;0.058;0.073	B;B;B;B;B	0.34722	0.188;0.092;0.003;0.021;0.047	T	0.43376	-0.9395	10	0.31617	T	0.26	-1.8594	4.1735	0.10341	0.1625:0.5924:0.1574:0.0877	.	1021;1028;983;1039;1097	F5H0I0;E7EME8;Q9HAU0-5;Q9HAU0;Q9HAU0-2	.;.;.;PKHA5_HUMAN;.	E	1102;1097;983;1205;1039;797;1097;1028;1021;320	ENSP00000325155:Q1102E;ENSP00000347560:Q1097E;ENSP00000352104:Q983E;ENSP00000404296:Q1205E;ENSP00000299275:Q1039E;ENSP00000440611:Q797E;ENSP00000439673:Q1097E;ENSP00000400411:Q1028E;ENSP00000439837:Q1021E;ENSP00000443553:Q320E	ENSP00000299275:Q1039E	Q	+	1	0	PLEKHA5	19410169	0.997000	0.39634	0.219000	0.23793	0.105000	0.19272	2.162000	0.42367	0.512000	0.28257	-0.384000	0.06662	CAA		0.313	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		G	19518902	C	G	19518902	3	3	185	1	0	0	0	0	1	0	0	0	12059	827	29	3	3527	3	PLEKHA5	12	19518902	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	13351757	19518902	114332993	69	10535											
DGKA	1606	genome.wustl.edu	37	12	56334431	56334431	+	Silent	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr12:56334431G>A	ENST00000331886.5	+	12	1396	c.942G>A	c.(940-942)gcG>gcA	p.A314A	DGKA_ENST00000394147.1_Silent_p.A314A|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.A314A	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	314					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.A314A(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GCCTGCAAGCGGTGGGCCATG	0.592											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	12											135	126	129					12																	56334431		2203	4300	6503	54620698	SO:0001819	synonymous_variant	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.942G>A	12.37:g.56334431G>A		1014	54620698	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	CCDS8896.1																																																																																				0.592	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			A	56334431	G	A	56334431	2	1	185	1	0	0	0	0	0	0	0	1	4465	1103	39	1		1	DGKA	12	56334431	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	36815529	56334431	77517464	70	10536											
TMEM119	338773	genome.wustl.edu	37	12	108985584	108985584	+	Silent	SNP	G	G	A	rs147107990	byFrequency	TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr12:108985584G>A	ENST00000392806.3	-	2	744	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	192					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G192G(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CGTCCCCACCGCCCAGTGCAG	0.687													G|||	2	0.000399361	0	0	5008	,	,		14559	0.001		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	12						G		1,4401		0,1,2200	36	32	33		576	4.3	0	12	dbSNP_134	33	0,8600		0,0,4300	no	coding-synonymous	TMEM119	NM_181724.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		192/284	108985584	1,13001	2201	4300	6501	107509713	SO:0001819	synonymous_variant	338773			AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.576C>T	12.37:g.108985584G>A			107509713	Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	CCDS9119.1																																																																																				0.687	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		A	108985584	G	A	108985584	2	1	185	1	0	0	0	0	0	0	0	1	16032	1074	38	1		1	TMEM119	12	108985584	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	52651153	108985584	24866311	71	10537											
TMEM132D	121256	genome.wustl.edu	37	12	130184522	130184522	+	Silent	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr12:130184522G>A	ENST00000422113.2	-	2	1127	c.801C>T	c.(799-801)atC>atT	p.I267I	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	267					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I267I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGATGCTCCCGATCCTCTGCA	0.572																																																1	Substitution - coding silent(1)	ovary(1)	12											92	82	86					12																	130184522		2203	4300	6503	128750475	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.801C>T	12.37:g.130184522G>A			128750475	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	130184522	G	A	130184522	2	1	185	1	0	0	0	0	0	0	0	1	16047	1048	37	1		1	TMEM132D	12	130184522	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	21198938	130184522	3667373	72	10538											
N4BP2L2	10443	genome.wustl.edu	37	13	33016881	33016893	+	Frame_Shift_Del	DEL	AAAGAAGGAATAT	AAAGAAGGAATAT	-			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	AAAGAAGGAATAT	AAAGAAGGAATAT	AAAGAAGGAATAT	-	AAAGAAGGAATAT	AAAGAAGGAATAT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr13:33016881_33016893delAAAGAAGGAATAT	ENST00000504114.1	-	6	1827_1839	c.1736_1748delATATTCCTTCTTT	c.(1735-1749)tatattccttcttttfs	p.YIPSF579fs	N4BP2L2_ENST00000399396.3_Frame_Shift_Del_p.YIPSF594fs|N4BP2L2_ENST00000357505.6_Frame_Shift_Del_p.YIPSF579fs|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGTAGCACAAAAGAAGGAATATAATTTTTGTA	0.315																																																0			13																																								31914893	SO:0001589	frameshift_variant	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1736_1748delATATTCCTTCTTT	13.37:g.33016881_33016893delAAAGAAGGAATAT	ENSP00000427477:p.Tyr579fs		31914881	A3KME8	Frame_Shift_Del	DEL	ENST00000504114.1	37																																																																																					0.315	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		-	33016893	AAAGAAGGAATAT	-	33016881	7	5	185	1	0	1	0	1	0	0	0	0	10112	14	1	0	477	0	N4BP2L2	13	33016881	Frame_Shift_Del	DEL	AAAGAAGGAATAT	TCGA-23-1117-01A-02W-0488-09		33016881	82152997	73	10539											
SCEL	8796	genome.wustl.edu	37	13	78167662	78167662	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr13:78167662G>C	ENST00000349847.3	+	12	790	c.706G>C	c.(706-708)Gat>Cat	p.D236H	SCEL_ENST00000377246.3_Intron|SCEL_ENST00000535157.1_Missense_Mutation_p.D214H	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	236					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.D236H(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TCAGGATCTTGATAACATCGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	13											133	122	126					13																	78167662		2203	4300	6503	77065663	SO:0001583	missense	8796			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.706G>C	13.37:g.78167662G>C	ENSP00000302579:p.Asp236His		77065663	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406558	0.42715	.	.	ENSG00000136155	ENST00000535157;ENST00000349847	T;T	0.29917	1.55;1.55	5.36	3.64	0.41730	.	0.464380	0.20181	N	0.097508	T	0.38639	0.1048	L	0.38175	1.15	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.62649	0.873;0.905	T	0.10613	-1.0622	10	0.56958	D	0.05	-5.4825	8.2856	0.31926	0.1827:0.0:0.8173:0.0	.	214;236	F5H651;O95171	.;SCEL_HUMAN	H	214;236	ENSP00000437895:D214H;ENSP00000302579:D236H	ENSP00000302579:D236H	D	+	1	0	SCEL	77065663	0.160000	0.22878	0.001000	0.08648	0.748000	0.42578	2.035000	0.41155	0.753000	0.32945	0.655000	0.94253	GAT		0.363	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		C	78167662	G	C	78167662	3	2	185	1	0	0	0	0	1	0	0	0	13891	1290	45	3	748	3	SCEL	13	78167662	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	45150781	78167662	37002216	74	10540											
EAPP	55837	genome.wustl.edu	37	14	34998570	34998570	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr14:34998570C>G	ENST00000250454.3	-	4	545	c.464G>C	c.(463-465)aGa>aCa	p.R155T		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	155					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R155T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTACCCCCTTCTCTGTGCATC	0.299																																																1	Substitution - Missense(1)	ovary(1)	14											138	122	126					14																	34998570		1814	4075	5889	34068321	SO:0001583	missense	55837			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.464G>C	14.37:g.34998570C>G	ENSP00000250454:p.Arg155Thr		34068321	Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688601	0.88639	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.45668	0.89;0.89	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.91612	3.225	0.80722	D	1	D	0.62365	0.991	P	0.55824	0.785	T	0.76377	-0.2981	10	0.66056	D	0.02	-19.5171	19.5171	0.95169	0.0:1.0:0.0:0.0	.	155	Q56P03	EAPP_HUMAN	T	155;134	ENSP00000250454:R155T;ENSP00000450908:R134T	ENSP00000250454:R155T	R	-	2	0	EAPP	34068321	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.847000	0.75404	2.705000	0.92388	0.585000	0.79938	AGA		0.299	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		G	34998570	C	G	34998570	3	3	185	1	0	0	0	0	1	0	0	0	4877	913	32	3	405	3	EAPP	14	34998570	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09		34998570	72350970	75	10541											
SOS2	6655	genome.wustl.edu	37	14	50585461	50585461	+	Silent	SNP	C	C	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr14:50585461C>A	ENST00000216373.5	-	23	3874	c.3600G>T	c.(3598-3600)ctG>ctT	p.L1200L	VCPKMT_ENST00000395860.2_5'Flank|SOS2_ENST00000543680.1_Silent_p.L1167L|VCPKMT_ENST00000395859.2_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1200					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1200L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GTGGACTATGCAGAGGCCCAT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	14											95	100	98					14																	50585461		2203	4300	6503	49655211	SO:0001819	synonymous_variant	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3600G>T	14.37:g.50585461C>A			49655211	B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	CCDS9697.1																																																																																				0.507	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			A	50585461	C	A	50585461	2	1	185	1	0	0	0	0	0	0	0	1	14940	697	25	3		3	SOS2	14	50585461	Silent	SNP	C	TCGA-23-1117-01A-02W-0488-09	15586891	50585461	56764079	76	10542											
FBXO34	55030	genome.wustl.edu	37	14	55819068	55819068	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr14:55819068T>A	ENST00000313833.4	+	2	2205	c.1960T>A	c.(1960-1962)Tat>Aat	p.Y654N	FBXO34_ENST00000440021.1_Missense_Mutation_p.Y654N	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	654								p.Y654N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCCCAAGCCCTATTGCCAGGC	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											90	87	88					14																	55819068		2203	4300	6503	54888821	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1960T>A	14.37:g.55819068T>A	ENSP00000313159:p.Tyr654Asn		54888821	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969732	0.74246	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.44881	0.91;0.91	5.91	5.91	0.95273	.	0.238756	0.35936	N	0.002883	T	0.65502	0.2697	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.69217	-0.5203	10	0.87932	D	0	.	16.3512	0.83208	0.0:0.0:0.0:1.0	.	654	Q9NWN3	FBX34_HUMAN	N	654	ENSP00000313159:Y654N;ENSP00000394117:Y654N	ENSP00000313159:Y654N	Y	+	1	0	FBXO34	54888821	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	8.040000	0.89188	2.266000	0.75297	0.533000	0.62120	TAT		0.537	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			A	55819068	T	A	55819068	3	1	185	1	0	0	0	0	1	0	0	0	5744	1522	53	5	1962	5	FBXO34	14	55819068	Missense_Mutation	SNP	T	TCGA-23-1117-01A-02W-0488-09	5233607	55819068	51530472	77	10543											
SPG11	80208	genome.wustl.edu	37	15	44952735	44952735	+	Silent	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr15:44952735G>A	ENST00000261866.7	-	2	353	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	SPG11_ENST00000427534.2_Silent_p.L113L|SPG11_ENST00000559193.1_Silent_p.L113L|SPG11_ENST00000535302.2_Silent_p.L113L|SPG11_ENST00000558319.1_Silent_p.L113L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	113					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.L113L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TAGATAAGCAGTTCATAATTT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	15											128	125	126					15																	44952735		2198	4298	6496	42740027	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.337C>T	15.37:g.44952735G>A			42740027	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.378	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44952735	G	A	44952735	2	1	185	1	0	0	0	0	0	0	0	1	15043	1020	36	2		2	SPG11	15	44952735	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09		44952735	57578657	78	10544											
SPATA5L1	79029	genome.wustl.edu	37	15	45713330	45713330	+	Silent	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr15:45713330G>A	ENST00000305560.6	+	8	2283	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	728						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.P728P(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGTAAAACCGTCGTTAAGTT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	15											71	73	73					15																	45713330		2198	4298	6496	43500622	SO:0001819	synonymous_variant	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2184G>A	15.37:g.45713330G>A			43500622	C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	G	1.748	-0.489945	0.04322	.	.	ENSG00000171763	ENST00000531624	.	.	.	5.6	-4.29	0.03721	.	.	.	.	.	T	0.61652	0.2364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59568	-0.7430	4	.	.	.	-29.4054	12.7091	0.57080	0.5312:0.0:0.4688:0.0	.	.	.	.	H	233	.	.	R	+	2	0	SPATA5L1	43500622	0.025000	0.19082	0.900000	0.35374	0.230000	0.25150	-0.888000	0.04148	-1.187000	0.02709	-1.267000	0.01435	CGT		0.358	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		A	45713330	G	A	45713330	2	1	185	1	0	0	0	0	0	0	0	1	15014	1132	40	1		1	SPATA5L1	15	45713330	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	760595	45713330	56818062	79	10545											
CCDC33	80125	genome.wustl.edu	37	15	74623038	74623038	+	Silent	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr15:74623038G>A	ENST00000398814.3	+	13	1922	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	CCDC33_ENST00000558821.1_Silent_p.L90L|CCDC33_ENST00000268082.4_Silent_p.L90L|CCDC33_ENST00000321288.5_Silent_p.L700L	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	700								p.L497L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGAGTGAGCTGGATATGAAGA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	15											79	81	80					15																	74623038		1991	4183	6174	72410091	SO:0001819	synonymous_variant	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1491G>A	15.37:g.74623038G>A			72410091	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	CCDS42058.1																																																																																				0.567	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		A	74623038	G	A	74623038	2	1	185	1	0	0	0	0	0	0	0	1	2806	1335	47	2		2	CCDC33	15	74623038	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	28909708	74623038	27908354	80	10546											
RASGRF1	5923	genome.wustl.edu	37	15	79339206	79339206	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr15:79339206C>G	ENST00000419573.3	-	5	1034	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E254Q|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	254	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E254Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCACGTACTCAGCCTCAGCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	15											136	103	114					15																	79339206		2196	4293	6489	77126261	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.760G>C	15.37:g.79339206C>G	ENSP00000405963:p.Glu254Gln		77126261	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646950	0.87958	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.63255	-0.03	4.03	4.03	0.46877	Dbl homology (DH) domain (5);	0.000000	0.52532	U	0.000069	T	0.70798	0.3265	L	0.53249	1.67	0.80722	D	1	D;D;D;P	0.64830	0.994;0.994;0.989;0.898	D;D;D;P	0.69142	0.962;0.944;0.944;0.737	T	0.66333	-0.5950	10	0.18276	T	0.48	.	13.7003	0.62604	0.0:1.0:0.0:0.0	.	254;254;254;254	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Q	254	ENSP00000405963:E254Q	ENSP00000378224:E254Q	E	-	1	0	RASGRF1	77126261	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.434000	0.80377	2.072000	0.62099	0.655000	0.94253	GAG		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		G	79339206	C	G	79339206	3	3	185	1	0	0	0	0	1	0	0	0	13075	835	29	3	3157	3	RASGRF1	15	79339206	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	4716168	79339206	23192186	81	10547											
ACAN	176	genome.wustl.edu	37	15	89382075	89382075	+	Silent	SNP	A	A	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr15:89382075A>G	ENST00000561243.1	+	2	252	c.252A>G	c.(250-252)gtA>gtG	p.V84V	ACAN_ENST00000559004.1_Silent_p.V84V|ACAN_ENST00000352105.7_Silent_p.V84V|ACAN_ENST00000439576.2_Silent_p.V84V|ACAN_ENST00000558207.1_Silent_p.V84V			P16112	PGCA_HUMAN	aggrecan	84	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.V84V(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGAAGGAGGTAGTGCTGCTGG	0.617																																																1	Substitution - coding silent(1)	ovary(1)	15											114	132	126					15																	89382075		2122	4240	6362	87183079	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.252A>G	15.37:g.89382075A>G			87183079	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																				0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		G	89382075	A	G	89382075	2	3	185	1	0	0	0	0	0	0	0	1	117	407	15	4		4	ACAN	15	89382075	Silent	SNP	A	TCGA-23-1117-01A-02W-0488-09	10042869	89382075	13149317	82	10548											
ANPEP	290	genome.wustl.edu	37	15	90349386	90349386	+	Silent	SNP	T	T	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr15:90349386T>C	ENST00000300060.6	-	2	742	c.429A>G	c.(427-429)ggA>ggG	p.G143G		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	143	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.G143G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCTGGGAGCCTCCCACACCAC	0.607																																					NSCLC(30;827 977 2459 19669 26125)											1	Substitution - coding silent(1)	ovary(1)	15											83	72	76					15																	90349386		2200	4299	6499	88150390	SO:0001819	synonymous_variant	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.429A>G	15.37:g.90349386T>C			88150390	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	CCDS10356.1																																																																																				0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90349386	T	C	90349386	2	2	185	1	0	0	0	0	0	0	0	1	710	1538	54	4		4	ANPEP	15	90349386	Silent	SNP	T	TCGA-23-1117-01A-02W-0488-09	967311	90349386	12182006	83	10549											
CDH8	1006	genome.wustl.edu	37	16	61851493	61851493	+	Silent	SNP	C	C	A	rs551243066		TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr16:61851493C>A	ENST00000577390.1	-	7	2121	c.1167G>T	c.(1165-1167)ccG>ccT	p.P389P	CDH8_ENST00000299345.6_Silent_p.P389P|CDH8_ENST00000577730.1_Silent_p.P389P|CDH8_ENST00000584337.1_Silent_p.P389P	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	389	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.P389P(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AAGAGAAGACCGGAGGCTCAT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	16											108	91	97					16																	61851493		2203	4300	6503	60408994	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1167G>T	16.37:g.61851493C>A			60408994	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.502	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		A	61851493	C	A	61851493	2	1	185	1	0	0	0	0	0	0	0	1	3116	639	23	3		3	CDH8	16	61851493	Silent	SNP	C	TCGA-23-1117-01A-02W-0488-09		61851493	28503260	84	10550											
TUBB3	10381	genome.wustl.edu	37	16	89999920	89999920	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr16:89999920G>A	ENST00000315491.7	+	3	334	c.211G>A	c.(211-213)Gga>Aga	p.G71R	TUBB3_ENST00000556922.1_Missense_Mutation_p.G418R|TUBB3_ENST00000553967.1_Missense_Mutation_p.G71R|TUBB3_ENST00000554444.1_5'UTR|TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000554336.1_Missense_Mutation_p.G71R|TUBB3_ENST00000555576.1_Missense_Mutation_p.G71R	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	71					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G71R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CCTGGAACCCGGAACCATGGA	0.582																																																1	Substitution - Missense(1)	ovary(1)	16											211	213	212					16																	89999920		2198	4300	6498	88527421	SO:0001583	missense	10381			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.211G>A	16.37:g.89999920G>A	ENSP00000320295:p.Gly71Arg		88527421	A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114937	0.56505	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000554336;ENST00000553967;ENST00000315491;ENST00000555576	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	4.57	4.57	0.56435	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.56097	D	0.000030	T	0.78861	0.4350	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.85130	0.997;0.689	T	0.79017	-0.1975	9	.	.	.	.	15.2253	0.73345	0.0:0.0:1.0:0.0	.	71;71	Q13509;B2RBD5	TBB3_HUMAN;.	R	418;71;71;71;71;71	ENSP00000451560:G418R;ENSP00000450822:G71R;ENSP00000450765:G71R;ENSP00000320295:G71R;ENSP00000452554:G71R	.	G	+	1	0	RP11-566K11.2;TUBB3	88527421	1.000000	0.71417	0.982000	0.44146	0.497000	0.33675	9.632000	0.98428	2.255000	0.74692	0.650000	0.86243	GGA		0.582	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		A	89999920	G	A	89999920	3	1	185	1	0	0	0	0	1	0	0	0	16757	1117	39	1	221	1	TUBB3	16	89999920	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	28148427	89999920	354833	85	10551											
TP53	7157	genome.wustl.edu	37	17	7578470	7578500	+	Frame_Shift_Del	DEL	CGGGCGGGGGTGTGGAATCAACCCACAGCTG	CGGGCGGGGGTGTGGAATCAACCCACAGCTG	-	rs137852790|rs137852791|rs587782705|rs137852789|rs28934874|rs587782197|rs72661116		TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	CGGGCGGGGGTGTGGAATCAACCCACAGCTG	CGGGCGGGGGTGTGGAATCAACCCACAGCTG	CGGGCGGGGGTGTGGAATCAACCCACAGCTG	-	CGGGCGGGGGTGTGGAATCAACCCACAGCTG	CGGGCGGGGGTGTGGAATCAACCCACAGCTG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr17:7578470_7578500delCGGGCGGGGGTGTGGAATCAACCCACAGCTG	ENST00000269305.4	-	5	619_649	c.430_460delCAGCTGTGGGTTGATTCCACACCCCCGCCCG	c.(430-462)cagctgtgggttgattccacacccccgcccggcfs	p.QLWVDSTPPPG144fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.QLWVDSTPPPG144fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.QLWVDSTPPPG144fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.QLWVDSTPPPG144fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.QLWVDSTPPPG144fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.QLWVDSTPPPG144fs|TP53_ENST00000574684.1_5'Flank	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	144	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W146*(72)|p.P151S(68)|p.P152L(66)|p.Q144*(36)|p.P151H(31)|p.P152S(22)|p.P152fs*18(18)|p.L145Q(17)|p.L145P(17)|p.P151T(16)|p.P151A(13)|p.P151P(12)|p.P153fs*28(11)|p.G154S(9)|p.P151R(9)|p.L145L(8)|p.P152R(8)|p.0?(8)|p.Q144L(8)|p.P153S(8)|p.L145R(7)|p.P151fs*30(7)|p.P151L(7)|p.P152T(7)|p.P153P(7)|p.T150fs*16(6)|p.V147G(6)|p.S149S(6)|p.S149F(6)|p.V147I(6)|p.P153L(6)|p.V147D(5)|p.P152fs*29(5)|p.P152fs*14(5)|p.V147fs*23(5)|p.W146R(5)|p.S149fs*32(5)|p.P152P(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.T150I(4)|p.Q144H(4)|p.D148E(4)|p.Q144R(4)|p.Q144P(4)|p.D148N(4)|p.S149P(4)|p.W146S(4)|p.P152fs*28(3)|p.W14*(3)|p.W53*(3)|p.Q144fs*25(3)|p.G154I(3)|p.S149fs*21(3)|p.P153T(3)|p.G154fs*27(3)|p.V147V(3)|p.Q12*(2)|p.D148fs*33(2)|p.P58H(2)|p.P58A(2)|p.P58S(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.S149T(2)|p.Q144fs*26(2)|p.P152A(2)|p.Q51*(2)|p.Q144del(2)|p.Q144K(2)|p.P20L(2)|p.V147A(2)|p.L145V(2)|p.P59L(2)|p.D148V(2)|p.Q144Q(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.D148fs*23(2)|p.D148fs*22(2)|p.W146C(2)|p.P19S(2)|p.P19H(2)|p.P19A(2)|p.L137_W146del10(1)|p.D148fs*34(1)|p.D148fs*32(1)|p.L145del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.G61C(1)|p.W14S(1)|p.P58T(1)|p.P58R(1)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.Q144fs*32(1)|p.T150fs*31(1)|p.T150fs*23(1)|p.W53S(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.Q51fs*25(1)|p.P152del(1)|p.S149fs*72(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.L145M(1)|p.P152_P153del(1)|p.T150R(1)|p.P20R(1)|p.P151del(1)|p.W146_S149>C(1)|p.D148del(1)|p.T150K(1)|p.S149fs*17(1)|p.V143_S149del(1)|p.P152_P153insXXX(1)|p.T150_P151delTP(1)|p.Q144fs*4(1)|p.P142_Q144delPVQ(1)|p.P153fs*16(1)|p.D148Y(1)|p.P151_V173del23(1)|p.D148D(1)|p.Q12fs*25(1)|p.D148H(1)|p.P59R(1)|p.G22C(1)|p.P153fs*20(1)|p.W146fs*1(1)|p.S149fs*31(1)|p.W146G(1)|p.V147E(1)|p.G154fs*22(1)|p.V147F(1)|p.P19R(1)|p.P19T(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.D148*(1)|p.P153H(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)	ACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAG	0.597		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"	752	Substitution - Missense(444)|Substitution - Nonsense(119)|Deletion - Frameshift(72)|Substitution - coding silent(44)|Insertion - Frameshift(39)|Deletion - In frame(16)|Whole gene deletion(8)|Unknown(5)|Insertion - In frame(3)|Complex - frameshift(1)|Complex - deletion inframe(1)	large_intestine(112)|upper_aerodigestive_tract(82)|lung(81)|oesophagus(59)|breast(59)|haematopoietic_and_lymphoid_tissue(49)|ovary(41)|central_nervous_system(39)|stomach(39)|urinary_tract(39)|skin(30)|endometrium(23)|liver(23)|prostate(22)|soft_tissue(13)|pancreas(12)|biliary_tract(8)|bone(6)|vulva(5)|thyroid(3)|adrenal_gland(2)|pleura(1)|peritoneum(1)|cervix(1)|eye(1)|small_intestine(1)	17	GRCh37	CD044990|CD090894|CI920955|CM012662|CM023462|CM941326|CM941327	TP53	D|I|M	rs137852789|rs28934874																																			7519225	SO:0001589	frameshift_variant	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.430_460delCAGCTGTGGGTTGATTCCACACCCCCGCCCG	17.37:g.7578470_7578500delCGGGCGGGGGTGTGGAATCAACCCACAGCTG	ENSP00000269305:p.Gln144fs		7519195	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578500	CGGGCGGGGGTGTGGAATCAACCCACAGCTG	-	7578470	7	5	185	1	0	1	0	1	0	0	0	0	16381	652	23	0	838	0	TP53	17	7578470	Frame_Shift_Del	DEL	CGGGCGGGGGTGTGGAATCAACCCACAGCTG	TCGA-23-1117-01A-02W-0488-09		7578470	73616740	86	10552											
ARHGEF15	22899	genome.wustl.edu	37	17	8215517	8215517	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr17:8215517C>G	ENST00000361926.3	+	2	270	c.160C>G	c.(160-162)Cca>Gca	p.P54A	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P54A	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	54	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P54A(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAATGATGCACCAACCCCAAT	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											102	106	105					17																	8215517		2203	4300	6503	8156242	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.160C>G	17.37:g.8215517C>G	ENSP00000355026:p.Pro54Ala		8156242	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	CCDS11139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.303|1.303	-0.604215|-0.604215	0.03717|0.03717	.|.	.|.	ENSG00000198844|ENSG00000198844	ENST00000455564|ENST00000361926;ENST00000421050	.|T;T	.|0.68624	.|-0.34;-0.34	5.0|5.0	1.66|1.66	0.24008|0.24008	.|.	.|0.707374	.|0.11585	.|N	.|0.549335	T|T	0.44623|0.44623	0.1302|0.1302	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.16603	.|0.018;0.018	.|B;B	.|0.14023	.|0.01;0.01	T|T	0.22382|0.22382	-1.0218|-1.0218	6|10	0.23891|0.25751	T|T	0.37|0.34	0.0478|0.0478	3.663|3.663	0.08245|0.08245	0.0:0.5523:0.2106:0.2372|0.0:0.5523:0.2106:0.2372	.|.	.|54;54	.|D3DTR7;O94989	.|.;ARHGF_HUMAN	Q|A	15|54	.|ENSP00000355026:P54A;ENSP00000412505:P54A	ENSP00000413324:H15Q|ENSP00000355026:P54A	H|P	+|+	3|1	2|0	ARHGEF15|ARHGEF15	8156242|8156242	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.198000|0.198000	0.23893|0.23893	-0.412000|-0.412000	0.07132|0.07132	0.664000|0.664000	0.31047|0.31047	0.650000|0.650000	0.86243|0.86243	CAC|CCA		0.637	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		G	8215517	C	G	8215517	3	3	185	1	0	0	0	0	1	0	0	0	898	507	18	3	162	3	ARHGEF15	17	8215517	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	637047	8215517	72979693	87	10553											
FBXW10	10517	genome.wustl.edu	37	17	18654366	18654366	+	Splice_Site	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr17:18654366G>C	ENST00000395665.4	+	5	1343	c.1122G>C	c.(1120-1122)aaG>aaC	p.K374N	FBXW10_ENST00000301938.4_Splice_Site_p.K374N|FBXW10_ENST00000308799.4_Splice_Site_p.K403N|FBXW10_ENST00000395667.1_Splice_Site_p.K374N			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	374								p.K374N(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGAGAACGAAGGTGGGTTCCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	17											209	200	203					17																	18654366		2203	4300	6503	18595091	SO:0001630	splice_region_variant	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1122+1G>C	17.37:g.18654366G>C			18595091	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624529	0.28889	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	2.73	2.73	0.32206	F-box domain, Skp2-like (1);	0.000000	0.38720	U	0.001593	T	0.46639	0.1403	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.996	D;D;D;D	0.85130	0.996;0.997;0.991;0.937	T	0.49103	-0.8974	10	0.59425	D	0.04	.	11.2579	0.49065	0.0:0.0:1.0:0.0	.	374;403;374;374	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	N	374;403;374;374	ENSP00000379026:K374N;ENSP00000310382:K403N;ENSP00000306937:K374N;ENSP00000379025:K374N	ENSP00000306937:K374N	K	+	3	2	FBXW10	18595091	1.000000	0.71417	0.995000	0.50966	0.182000	0.23217	3.349000	0.52217	1.518000	0.48934	0.405000	0.27470	AAG		0.488	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	Missense_Mutation	C	18654366	G	C	18654366	5	2	185	1	0	0	0	0	0	0	1	0	5763	1014	35	3	1140	3	FBXW10	17	18654366	Splice_Site	SNP	G	TCGA-23-1117-01A-02W-0488-09	10438849	18654366	62540844	88	10554											
CDC6	990	genome.wustl.edu	37	17	38447467	38447467	+	Silent	SNP	A	A	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr17:38447467A>C	ENST00000209728.4	+	3	807	c.336A>C	c.(334-336)ctA>ctC	p.L112L		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	112					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)	p.L112L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AAAGAGAACTAGCCAAAGTTC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	17											101	94	96					17																	38447467		2203	4300	6503	35700993	SO:0001819	synonymous_variant	990			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.336A>C	17.37:g.38447467A>C			35700993	Q8TB30	Silent	SNP	ENST00000209728.4	37	CCDS11365.1																																																																																				0.388	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			C	38447467	A	C	38447467	2	2	185	1	0	0	0	0	0	0	0	1	3083	407	15	5		5	CDC6	17	38447467	Silent	SNP	A	TCGA-23-1117-01A-02W-0488-09	19793101	38447467	42747743	89	10555											
CDC6	990	genome.wustl.edu	37	17	38457165	38457165	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr17:38457165G>T	ENST00000209728.4	+	10	1806	c.1335G>T	c.(1333-1335)agG>agT	p.R445S	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	445					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)	p.R445S(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						ATGGTAACAGGATGACCTTGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	17											223	193	203					17																	38457165		2203	4300	6503	35710691	SO:0001583	missense	990			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1335G>T	17.37:g.38457165G>T	ENSP00000209728:p.Arg445Ser		35710691	Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	8.334	0.827158	0.16749	.	.	ENSG00000094804	ENST00000209728	T	0.21191	2.02	5.96	2.36	0.29203	.	0.143965	0.64402	D	0.000012	T	0.13927	0.0337	L	0.39566	1.225	0.37906	D	0.931192	P	0.46064	0.872	B	0.40982	0.345	T	0.12993	-1.0526	10	0.07644	T	0.81	-13.5765	9.5958	0.39573	0.3346:0.0:0.6654:0.0	.	445	Q99741	CDC6_HUMAN	S	445	ENSP00000209728:R445S	ENSP00000209728:R445S	R	+	3	2	CDC6	35710691	0.999000	0.42202	0.999000	0.59377	0.866000	0.49608	0.421000	0.21280	0.735000	0.32537	0.655000	0.94253	AGG		0.418	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			T	38457165	G	T	38457165	3	4	185	1	0	0	0	0	1	0	0	0	3083	1165	41	3	1369	3	CDC6	17	38457165	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	9698	38457165	42738045	90	10556											
AOC3	8639	genome.wustl.edu	37	17	41004661	41004661	+	Missense_Mutation	SNP	A	A	T	rs200247368		TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr17:41004661A>T	ENST00000308423.2	+	1	1461	c.1301A>T	c.(1300-1302)cAg>cTg	p.Q434L	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	434					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.Q434L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTGTTTGAACAGAACCAGGGC	0.577																																					NSCLC(3;192 220 10664 11501 16477)											1	Substitution - Missense(1)	ovary(1)	17											100	89	93					17																	41004661		2203	4300	6503	38258187	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1301A>T	17.37:g.41004661A>T	ENSP00000312326:p.Gln434Leu		38258187	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	A	2.750	-0.260322	0.05791	.	.	ENSG00000131471	ENST00000308423	T	0.04015	3.73	4.64	4.64	0.57946	Copper amine oxidase, C-terminal (3);	0.252843	0.39210	N	0.001427	T	0.03959	0.0111	N	0.16790	0.44	0.80722	D	1	B	0.18741	0.03	B	0.31290	0.127	T	0.50767	-0.8789	10	0.20519	T	0.43	.	9.8683	0.41157	0.8475:0.0:0.0:0.1525	.	434	Q16853	AOC3_HUMAN	L	434	ENSP00000312326:Q434L	ENSP00000312326:Q434L	Q	+	2	0	AOC3	38258187	0.999000	0.42202	1.000000	0.80357	0.561000	0.35649	2.851000	0.48302	2.093000	0.63338	0.482000	0.46254	CAG		0.577	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		T	41004661	A	T	41004661	3	4	185	1	0	0	0	0	1	0	0	0	728	188	7	5	1303	5	AOC3	17	41004661	Missense_Mutation	SNP	A	TCGA-23-1117-01A-02W-0488-09	2547496	41004661	40190549	91	10557											
SDK2	54549	genome.wustl.edu	37	17	71364621	71364621	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr17:71364621C>A	ENST00000392650.3	-	37	5092	c.5092G>T	c.(5092-5094)Gtc>Ttc	p.V1698F	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.V1679F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1698	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V1698F(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCACGCTGACCATGTAGGCC	0.647																																																1	Substitution - Missense(1)	ovary(1)	17											58	43	48					17																	71364621		2203	4300	6503	68876216	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5092G>T	17.37:g.71364621C>A	ENSP00000376421:p.Val1698Phe		68876216	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043926	0.75732	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.56444	0.46;0.46;0.46	5.21	5.21	0.72293	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.060308	0.64402	D	0.000003	T	0.63908	0.2551	L	0.55017	1.72	0.41861	D	0.990222	D;B;B	0.58620	0.983;0.441;0.386	D;B;B	0.69654	0.965;0.393;0.273	T	0.64850	-0.6310	10	0.51188	T	0.08	.	9.5072	0.39053	0.0:0.843:0.0:0.157	.	1698;1698;1679	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	F	1322;1698;1679;855;1698;39	ENSP00000376421:V1698F;ENSP00000373378:V1679F;ENSP00000407098:V855F	ENSP00000324967:V1698F	V	-	1	0	SDK2	68876216	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.864000	0.39469	2.432000	0.82394	0.563000	0.77884	GTC		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71364621	C	A	71364621	3	1	185	1	0	0	0	0	1	0	0	0	13972	507	18	3	1462	3	SDK2	17	71364621	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	30359960	71364621	9830589	92	10558											
DSG3	1830	genome.wustl.edu	37	18	29055844	29055844	+	Missense_Mutation	SNP	C	C	A	rs561235235		TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr18:29055844C>A	ENST00000257189.4	+	16	2704	c.2621C>A	c.(2620-2622)tCt>tAt	p.S874Y		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	874					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S874Y(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCCACCCTCTAAAGACAGC	0.463																																																1	Substitution - Missense(1)	ovary(1)	18											129	125	126					18																	29055844		2203	4300	6503	27309842	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2621C>A	18.37:g.29055844C>A	ENSP00000257189:p.Ser874Tyr		27309842	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490396	0.44249	.	.	ENSG00000134757	ENST00000257189	T	0.60424	0.19	5.54	3.65	0.41850	.	0.766462	0.11481	N	0.559727	T	0.49864	0.1582	L	0.42245	1.32	0.09310	N	1	P	0.47841	0.901	B	0.42738	0.396	T	0.43261	-0.9402	10	0.66056	D	0.02	.	7.528	0.27666	0.1349:0.7233:0.0:0.1417	.	874	P32926	DSG3_HUMAN	Y	874	ENSP00000257189:S874Y	ENSP00000257189:S874Y	S	+	2	0	DSG3	27309842	0.004000	0.15560	0.006000	0.13384	0.011000	0.07611	1.870000	0.39529	1.489000	0.48450	0.655000	0.94253	TCT		0.463	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		A	29055844	C	A	29055844	3	1	185	1	0	0	0	0	1	0	0	0	4778	913	32	3	2683	3	DSG3	18	29055844	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09		29055844	49021404	93	10559											
TCF4	6925	genome.wustl.edu	37	18	52895488	52895488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr18:52895488C>A	ENST00000356073.4	-	19	2583	c.1972G>T	c.(1972-1974)Gga>Tga	p.G658*	TCF4_ENST00000568673.1_Nonsense_Mutation_p.G638*|TCF4_ENST00000570287.2_Nonsense_Mutation_p.G498*|TCF4_ENST00000570177.2_Nonsense_Mutation_p.G528*|TCF4_ENST00000537856.3_Nonsense_Mutation_p.G528*|TCF4_ENST00000544241.2_Nonsense_Mutation_p.G591*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.G602*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.G662*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.G598*|TCF4_ENST00000543082.1_Nonsense_Mutation_p.G616*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.G668*|TCF4_ENST00000537578.1_Nonsense_Mutation_p.G638*|TCF4_ENST00000564228.1_Nonsense_Mutation_p.G587*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.G658*|TCF4_ENST00000540999.1_Nonsense_Mutation_p.G634*|TCF4_ENST00000457482.3_Nonsense_Mutation_p.G502*|TCF4_ENST00000568740.1_Nonsense_Mutation_p.G633*|TCF4_ENST00000561831.3_Nonsense_Mutation_p.G498*|TCF4_ENST00000354452.3_Nonsense_Mutation_p.G662*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.G764*|TCF4_ENST00000566286.1_Nonsense_Mutation_p.G655*|TCF4_ENST00000561992.1_Nonsense_Mutation_p.G528*	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	658					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.G658*(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GATGCGTCTCCCATTCCAGGG	0.498																																																1	Substitution - Nonsense(1)	ovary(1)	18											112	96	101					18																	52895488		2203	4300	6503	51046486	SO:0001587	stop_gained	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1972G>T	18.37:g.52895488C>A	ENSP00000348374:p.Gly658*		51046486	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Nonsense_Mutation	SNP	ENST00000356073.4	37	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	37	6.383347	0.97524	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	.	.	.	5.72	5.72	0.89469	.	0.298693	0.35936	N	0.002892	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.4491	18.6583	0.91462	0.0:1.0:0.0:0.0	.	.	.	.	X	662;502;658;616;634;638;591;528;764	.	ENSP00000346440:G662X	G	-	1	0	TCF4	51046486	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.047000	0.57383	2.689000	0.91719	0.650000	0.86243	GGA		0.498	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		A	52895488	C	A	52895488	4	1	185	1	0	0	0	0	0	1	0	0	15695	632	22	3	35	3	TCF4	18	52895488	Nonsense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	23839644	52895488	25181760	94	10560											
SERPINB11	89778	genome.wustl.edu	37	18	61390572	61390572	+	RNA	SNP	T	T	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr18:61390572T>A	ENST00000382749.5	+	0	1363				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CCCTTCCTTTTCTTTATAAGG	0.527																																					Ovarian(27;496 784 5942 8975 23930)											0			18											139	130	133					18																	61390572		2177	4288	6465	59541552			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390572T>A			59541552	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37		.	.	.	.	.	.	.	.	.	.	T	23.1	4.374869	0.82573	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;T;D	0.87334	-2.24;2.17;-2.24	5.27	5.27	0.74061	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.64402	D	0.000016	D	0.92609	0.7652	M	0.71206	2.165	0.32591	N	0.527139	D;D;D;D	0.89917	0.998;1.0;1.0;0.999	D;D;D;D	0.87578	0.991;0.998;0.998;0.995	D	0.94568	0.7768	10	0.87932	D	0	.	14.6673	0.68918	0.0:0.0:0.0:1.0	.	198;171;286;373	F5GWT8;F5GY69;Q96P15-2;Q96P15	.;.;.;SPB11_HUMAN	Y	373;171;198	ENSP00000441497:F373Y;ENSP00000440795:F171Y;ENSP00000441708:F198Y	ENSP00000421854:F373Y	F	+	2	0	SERPINB11	59541552	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	7.663000	0.83820	2.106000	0.64143	0.533000	0.62120	TTC		0.527	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		A	61390572	T	A	61390572	1	1	185	0	1	0	0	0	0	0	0	0	14101	1783	62	5		5	SERPINB11	18	61390572	RNA	SNP	T	TCGA-23-1117-01A-02W-0488-09	8495084	61390572	16686676	95	10561											
MARCH2	51257	genome.wustl.edu	37	19	8491561	8491561	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr19:8491561G>C	ENST00000602117.1	+	3	700	c.245G>C	c.(244-246)tGc>tCc	p.C82S	MARCH2_ENST00000381035.4_Missense_Mutation_p.C82S|MARCH2_ENST00000215555.2_Missense_Mutation_p.C82S|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.C82S|RP11-886P16.6_ENST00000595706.1_RNA			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	82					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C82S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCGTGTGGCTGCACCGGCACG	0.582																																																1	Substitution - Missense(1)	ovary(1)	19											98	76	84					19																	8491561		2203	4300	6503	8397561	SO:0001583	missense	51257			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28038	protein-coding gene	gene with protein product		613332	"membrane-associated ring finger (C3HC4) 2"			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.245G>C	19.37:g.8491561G>C	ENSP00000471536:p.Cys82Ser		8397561	A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	g	14.43	2.534429	0.45073	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	D;D;D	0.86030	-2.06;-2.06;-2.06	5.41	5.41	0.78517	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	H	0.97707	4.06	0.80722	D	1	P;P	0.46142	0.873;0.722	B;B	0.42625	0.356;0.393	D	0.94442	0.7659	10	0.87932	D	0	-14.9653	17.8494	0.88740	0.0:0.0:1.0:0.0	.	82;82	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	S	82	ENSP00000377518:C82S;ENSP00000215555:C82S;ENSP00000370423:C82S	ENSP00000215555:C82S	C	+	2	0	MARCH2	8397561	1.000000	0.71417	0.823000	0.32752	0.155000	0.21991	9.623000	0.98386	2.562000	0.86427	0.574000	0.79327	TGC		0.582	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		C	8491561	G	C	8491561	3	2	185	1	0	0	0	0	1	0	0	0	9301	1319	46	3	251	3	MARCH2	19	8491561	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09		8491561	50637422	96	10562											
ZNF461	92283	genome.wustl.edu	37	19	37130147	37130147	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr19:37130147C>A	ENST00000588268.1	-	6	1327	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	ZNF461_ENST00000360357.4_Missense_Mutation_p.R344M|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	367					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.R240M(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAGCGATGCCTAAAAGTCTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	19											76	84	81					19																	37130147		2196	4300	6496	41821987	SO:0001583	missense	92283			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1100G>T	19.37:g.37130147C>A	ENSP00000467931:p.Arg367Met		41821987	A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212768	0.39102	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	T	0.08193	3.12	3.48	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18759	0.0450	L	0.49455	1.56	0.09310	N	1	D;D;D	0.89917	0.996;1.0;0.97	D;D;P	0.81914	0.993;0.995;0.843	T	0.04930	-1.0917	9	0.66056	D	0.02	.	6.1914	0.20526	0.185:0.4755:0.3395:0.0	.	344;289;367	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	M	367;98;344;240	ENSP00000353515:R344M	ENSP00000353515:R344M	R	-	2	0	ZNF461	41821987	0.000000	0.05858	0.321000	0.25320	0.981000	0.71138	-3.723000	0.00383	1.941000	0.56285	0.491000	0.48974	AGG		0.423	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		A	37130147	C	A	37130147	3	1	185	1	0	0	0	0	1	0	0	0	17925	681	24	3	595	3	ZNF461	19	37130147	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	28638586	37130147	21998836	97	10563											
SIPA1L3	23094	genome.wustl.edu	37	19	38610261	38610261	+	Silent	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr19:38610261G>A	ENST00000222345.6	+	9	3116	c.2607G>A	c.(2605-2607)ggG>ggA	p.G869G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	869					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.G869G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACAGTGCAGGGGCCATCGCCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	19											70	77	75					19																	38610261		2203	4300	6503	43302101	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2607G>A	19.37:g.38610261G>A			43302101	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																				0.572	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38610261	G	A	38610261	2	1	185	1	0	0	0	0	0	0	0	1	14334	1219	43	2		2	SIPA1L3	19	38610261	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	1480114	38610261	20518722	98	10564											
RYR1	6261	genome.wustl.edu	37	19	38924483	38924483	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr19:38924483A>T	ENST00000359596.3	+	1	14	c.14A>T	c.(13-15)gAa>gTa	p.E5V	RYR1_ENST00000355481.4_Missense_Mutation_p.E5V|RYR1_ENST00000360985.3_Missense_Mutation_p.E5V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	5					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E5V(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGTGACGCAGAAGGCGAAGAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	19											139	137	138					19																	38924483		2203	4300	6503	43616323	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14A>T	19.37:g.38924483A>T	ENSP00000352608:p.Glu5Val		43616323	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153425	0.57259	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97279	-4.32;-4.32;-4.32	4.81	4.81	0.61882	.	0.077847	0.48286	U	0.000185	D	0.97424	0.9157	L	0.55481	1.735	0.37484	D	0.916105	D;D	0.61080	0.989;0.964	D;P	0.75020	0.985;0.632	D	0.99013	1.0815	10	0.87932	D	0	.	10.9198	0.47158	1.0:0.0:0.0:0.0	.	5;5	P21817-2;P21817	.;RYR1_HUMAN	V	5	ENSP00000352608:E5V;ENSP00000347667:E5V;ENSP00000354254:E5V	ENSP00000347667:E5V	E	+	2	0	RYR1	43616323	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.891000	0.63185	2.144000	0.66660	0.459000	0.35465	GAA		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38924483	A	T	38924483	3	4	185	1	0	0	0	0	1	0	0	0	13771	246	9	5	16	5	RYR1	19	38924483	Missense_Mutation	SNP	A	TCGA-23-1117-01A-02W-0488-09	314222	38924483	20204500	99	10565											
IZUMO1	284359	genome.wustl.edu	37	19	49245071	49245071	+	Silent	SNP	G	G	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr19:49245071G>C	ENST00000332955.2	-	8	1276	c.729C>G	c.(727-729)gcC>gcG	p.A243A	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	243	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.A243A(1)		endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGATGATCGTGGCTGGGCTGG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	19											44	44	44					19																	49245071		2203	4300	6503	53936883	SO:0001819	synonymous_variant	284359			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.729C>G	19.37:g.49245071G>C			53936883	Q6Q8P6|Q6Q8P7	Silent	SNP	ENST00000332955.2	37	CCDS12732.1																																																																																				0.622	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		C	49245071	G	C	49245071	2	2	185	1	0	0	0	0	0	0	0	1	7933	1335	47	3		3	IZUMO1	19	49245071	Silent	SNP	G	TCGA-23-1117-01A-02W-0488-09	10320588	49245071	9883912	100	10566											
RPN2	6185	genome.wustl.edu	37	20	35862446	35862446	+	Silent	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr20:35862446C>T	ENST00000237530.6	+	15	2012	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	RPN2_ENST00000373622.5_Silent_p.V535V|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	567					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)	p.V567V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GTGCCAATGTCTCCAACTTCA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	20											175	147	156					20																	35862446		2203	4300	6503	35295860	SO:0001819	synonymous_variant	6185			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1701C>T	20.37:g.35862446C>T			35295860	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	8.721	0.914257	0.17907	.	.	ENSG00000118705	ENST00000456400	.	.	.	5.27	3.22	0.36961	.	.	.	.	.	T	0.53222	0.1783	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49485	-0.8935	4	.	.	.	-7.0535	5.5011	0.16829	0.0:0.698:0.0:0.302	.	.	.	.	F	92	.	.	L	+	1	0	RPN2	35295860	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.386000	0.20702	1.453000	0.47775	0.655000	0.94253	CTC		0.433	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		T	35862446	C	T	35862446	2	4	185	1	0	0	0	0	0	0	0	1	13611	900	32	2		2	RPN2	20	35862446	Silent	SNP	C	TCGA-23-1117-01A-02W-0488-09		35862446	27163074	101	10567											
GABPA	2551	genome.wustl.edu	37	21	27121414	27121414	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr21:27121414A>C	ENST00000354828.3	+	4	817	c.290A>C	c.(289-291)cAg>cCg	p.Q97P	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.Q97P	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	97					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|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 positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.Q97P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CTTAGTGTACAGGTAATTTCT	0.303																																																1	Substitution - Missense(1)	ovary(1)	21											72	68	69					21																	27121414		2203	4298	6501	26043285	SO:0001583	missense	2551				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"human nuclear respiratory factor-2 subunit alpha", "nuclear respiratory factor 2 alpha subunit"	600609	"GA-binding protein transcription factor, alpha subunit (60kD)"			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.290A>C	21.37:g.27121414A>C	ENSP00000346886:p.Gln97Pro		26043285	Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977484	0.74360	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.18174	2.23;2.23	4.73	4.73	0.59995	GA-binding protein alpha subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.35101	-0.9802	10	0.87932	D	0	.	14.3334	0.66572	1.0:0.0:0.0:0.0	.	97	Q06546	GABPA_HUMAN	P	97	ENSP00000346886:Q97P;ENSP00000382948:Q97P	ENSP00000346886:Q97P	Q	+	2	0	GABPA	26043285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.140000	0.89616	2.107000	0.64212	0.445000	0.29226	CAG		0.303	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		C	27121414	A	C	27121414	3	2	185	1	0	0	0	0	1	0	0	0	6157	188	7	5	300	5	GABPA	21	27121414	Missense_Mutation	SNP	A	TCGA-23-1117-01A-02W-0488-09		27121414	21008481	102	10568											
ETS2	2114	genome.wustl.edu	37	21	40191681	40191681	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chr21:40191681G>T	ENST00000360214.3	+	9	1526	c.1066G>T	c.(1066-1068)Ggc>Tgc	p.G356C	ETS2_ENST00000360938.3_Missense_Mutation_p.G356C	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	356					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G356C(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGTGCTGGCCGGCTTCACAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	21											36	30	32					21																	40191681		2203	4300	6503	39113551	SO:0001583	missense	2114				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.1066G>T	21.37:g.40191681G>T	ENSP00000353344:p.Gly356Cys		39113551	A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851390	0.91355	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.14391	2.51;2.51	5.9	5.9	0.94986	Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.32556	0.0833	M	0.76328	2.33	0.80722	D	1	P	0.51147	0.942	P	0.51385	0.668	T	0.02015	-1.1229	9	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	356	P15036	ETS2_HUMAN	C	356	ENSP00000353344:G356C;ENSP00000354194:G356C	ENSP00000353344:G356C	G	+	1	0	ETS2	39113551	1.000000	0.71417	0.989000	0.46669	0.711000	0.40976	7.427000	0.80284	2.788000	0.95919	0.650000	0.86243	GGC		0.562	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			T	40191681	G	T	40191681	3	4	185	1	0	0	0	0	1	0	0	0	5276	1116	39	3	1092	3	ETS2	21	40191681	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	13070267	40191681	7938214	103	10569											
IL1RAPL1	11141	genome.wustl.edu	37	X	29938089	29938089	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chrX:29938089A>C	ENST00000378993.1	+	8	1608	c.935A>C	c.(934-936)gAa>gCa	p.E312A	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E312A	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	312	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.E312A(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CATCTTGGGGAACAGGAAGTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	X											208	177	187					X																	29938089		2202	4300	6502	29848010	SO:0001583	missense	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.935A>C	X.37:g.29938089A>C	ENSP00000368278:p.Glu312Ala		29848010	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203993	0.79127	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.13307	2.6;2.6	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	M	0.75447	2.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.12863	-1.0531	9	.	.	.	.	15.3142	0.74059	1.0:0.0:0.0:0.0	.	312	Q9NZN1	IRPL1_HUMAN	A	312	ENSP00000368278:E312A;ENSP00000305200:E312A	.	E	+	2	0	IL1RAPL1	29848010	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.962000	0.93254	2.000000	0.58554	0.425000	0.28330	GAA		0.383	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		C	29938089	A	C	29938089	3	2	185	1	0	0	0	0	1	0	0	0	7661	246	9	5	961	5	IL1RAPL1	23	29938089	Missense_Mutation	SNP	A	TCGA-23-1117-01A-02W-0488-09		29938089	125332471	104	10570											
PASD1	139135	genome.wustl.edu	37	X	150793954	150793954	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chrX:150793954C>T	ENST00000370357.4	+	8	826	c.581C>T	c.(580-582)gCt>gTt	p.A194V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	194						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A194V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATGAAGCTGTACTTACA	0.323																																																1	Substitution - Missense(1)	ovary(1)	X											174	171	172					X																	150793954		2203	4300	6503	150544610	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.581C>T	X.37:g.150793954C>T	ENSP00000359382:p.Ala194Val		150544610	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587528	0.28268	.	.	ENSG00000166049	ENST00000370357	T	0.70631	-0.5	4.0	-7.99	0.01131	.	.	.	.	.	T	0.48059	0.1479	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.28870	-1.0030	9	0.23891	T	0.37	-9.0989	8.4359	0.32786	0.1341:0.5742:0.0:0.2917	.	194	Q8IV76	PASD1_HUMAN	V	194	ENSP00000359382:A194V	ENSP00000359382:A194V	A	+	2	0	PASD1	150544610	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.099000	0.00295	-2.103000	0.00844	-0.515000	0.04445	GCT		0.323	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		T	150793954	C	T	150793954	3	4	185	1	0	0	0	0	1	0	0	0	11471	797	28	2	607	2	PASD1	23	150793954	Missense_Mutation	SNP	C	TCGA-23-1117-01A-02W-0488-09	120855865	150793954	4476606	105	10571											
ATP2B3	492	genome.wustl.edu	37	X	152845739	152845739	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1117-01A-02W-0488-09	TCGA-23-1117-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	3a4b0c6a-1f43-437c-b715-fc50c1c0303d	4d020436-5a7e-42bc-af98-233e3d2d025d	g.chrX:152845739G>A	ENST00000349466.2	+	21	3972	c.3646G>A	c.(3646-3648)Gtg>Atg	p.V1216M	ATP2B3_ENST00000263519.4_Missense_Mutation_p.V1216M|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000359149.3_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1216					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.V1216M(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCACAGCGTGGAGACGTC	0.557																																																1	Substitution - Missense(1)	ovary(1)	X											88	76	80					X																	152845739		2203	4300	6503	152498933	SO:0001583	missense	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3646G>A	X.37:g.152845739G>A	ENSP00000343886:p.Val1216Met		152498933	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	g	12.80	2.045946	0.36085	.	.	ENSG00000067842	ENST00000349466;ENST00000263519	D;D	0.93953	-3.32;-3.32	5.04	1.46	0.22682	.	0.506810	0.20174	N	0.097671	T	0.82015	0.4945	N	0.04508	-0.205	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.11329	0.006;0.001	T	0.71434	-0.4594	10	0.52906	T	0.07	-17.4703	7.3049	0.26443	0.6198:0.0:0.3802:0.0	.	1202;1216	Q16720-4;Q16720	.;AT2B3_HUMAN	M	1216	ENSP00000343886:V1216M;ENSP00000263519:V1216M	ENSP00000263519:V1216M	V	+	1	0	ATP2B3	152498933	0.000000	0.05858	1.000000	0.80357	0.351000	0.29236	-0.849000	0.04322	0.207000	0.20607	-0.402000	0.06365	GTG		0.557	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		A	152845739	G	A	152845739	3	1	185	1	0	0	0	0	1	0	0	0	1141	1145	40	1	3882	1	ATP2B3	23	152845739	Missense_Mutation	SNP	G	TCGA-23-1117-01A-02W-0488-09	2051785	152845739	2424821	106	10572											
HSD3B1	3283	genome.wustl.edu	37	1	120057191	120057191	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr1:120057191G>T	ENST00000369413.3	+	4	1190	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	HSD3B1_ENST00000235547.6_Missense_Mutation_p.A351S|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A349S			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	349					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.A349S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CTGGGAGGAAGCCAAGCAGAA	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											71	59	63					1																	120057191		2203	4300	6503	119858714	SO:0001583	missense	3283			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1045G>T	1.37:g.120057191G>T	ENSP00000358421:p.Ala349Ser		119858714	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	CCDS903.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518590	0.44763	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.88896	-2.44;-2.44;-2.44	3.26	3.26	0.37387	.	0.052181	0.85682	D	0.000000	D	0.89767	0.6810	M	0.63843	1.955	0.50313	D	0.999867	D;D	0.89917	0.988;1.0	P;D	0.91635	0.668;0.999	D	0.88908	0.3357	10	0.46703	T	0.11	-1.7518	7.907	0.29767	0.0:0.0:0.7541:0.2459	.	351;349	Q5TDG2;P14060	.;3BHS1_HUMAN	S	349;351;349	ENSP00000358421:A349S;ENSP00000235547:A351S;ENSP00000432268:A349S	ENSP00000235547:A351S	A	+	1	0	HSD3B1	119858714	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	3.326000	0.52037	1.799000	0.52666	0.313000	0.20887	GCC		0.498	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		T	120057191	G	T	120057191	3	4	186	1	0	0	0	0	1	0	0	0	7390	971	34	3	1055	3	HSD3B1	1	120057191	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09		120057191	129193430	1	10573											
PGLYRP3	114771	genome.wustl.edu	37	1	153283093	153283093	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr1:153283093C>T	ENST00000290722.1	-	1	101	c.49G>A	c.(49-51)Gct>Act	p.A17T		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	17					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.A17T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTACCCCAAGCCTGGAGACCC	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											154	156	155					1																	153283093		2203	4300	6503	151549717	SO:0001583	missense	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.49G>A	1.37:g.153283093C>T	ENSP00000290722:p.Ala17Thr		151549717	A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779066	0.49891	.	.	ENSG00000159527	ENST00000290722	T	0.07021	3.23	3.22	3.22	0.36961	N-acetylmuramoyl-L-alanine amidase domain (1);	0.194892	0.25581	N	0.029699	T	0.03871	0.0109	L	0.55990	1.75	0.09310	N	1	P	0.46784	0.884	B	0.41374	0.355	T	0.31081	-0.9956	10	0.38643	T	0.18	-0.1639	10.2206	0.43194	0.0:1.0:0.0:0.0	.	17	Q96LB9	PGRP3_HUMAN	T	17	ENSP00000290722:A17T	ENSP00000290722:A17T	A	-	1	0	PGLYRP3	151549717	0.003000	0.15002	0.003000	0.11579	0.008000	0.06430	0.850000	0.27737	2.076000	0.62316	0.655000	0.94253	GCT		0.502	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		T	153283093	C	T	153283093	3	4	186	1	0	0	0	0	1	0	0	0	11795	739	26	2	1004	2	PGLYRP3	1	153283093	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09	33225902	153283093	95967528	2	10574											
INSRR	3645	genome.wustl.edu	37	1	156823702	156823702	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr1:156823702G>C	ENST00000368195.3	-	2	875	c.479C>G	c.(478-480)cCa>cGa	p.P160R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	160					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P160R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGGTGCTGGCTGCAGCAG	0.652																																																1	Substitution - Missense(1)	ovary(1)	1											62	55	57					1																	156823702		2203	4300	6503	155090326	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.479C>G	1.37:g.156823702G>C	ENSP00000357178:p.Pro160Arg		155090326	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214286	0.39102	.	.	ENSG00000027644	ENST00000368195	T	0.28666	1.6	5.11	5.11	0.69529	.	0.000000	0.45867	D	0.000323	T	0.17746	0.0426	.	.	.	0.41359	D	0.987411	P	0.51933	0.949	B	0.43331	0.416	T	0.01982	-1.1235	9	0.42905	T	0.14	.	11.1849	0.48650	0.0:0.0:0.8163:0.1837	.	160	P14616	INSRR_HUMAN	R	160	ENSP00000357178:P160R	ENSP00000357178:P160R	P	-	2	0	INSRR	155090326	1.000000	0.71417	0.926000	0.36857	0.900000	0.52787	3.255000	0.51484	2.381000	0.81170	0.557000	0.71058	CCA		0.652	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		C	156823702	G	C	156823702	3	2	186	1	0	0	0	0	1	0	0	0	7774	1348	47	3	3497	3	INSRR	1	156823702	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	3540609	156823702	92426919	3	10575											
SRGAP2	23380	genome.wustl.edu	37	1	206632235	206632235	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr1:206632235C>A	ENST00000414007.1	+	18	2354	c.2354C>A	c.(2353-2355)gCg>gAg	p.A785E	SRGAP2_ENST00000419187.2_Missense_Mutation_p.A243E			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	925	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTGCCACAGCGGGAAGGTCA	0.542																																																0			1											33	37	35					1																	206632235		2006	4173	6179	204698858	SO:0001583	missense	23380			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2354C>A	1.37:g.206632235C>A	ENSP00000390898:p.Ala785Glu		204698858		Missense_Mutation	SNP	ENST00000414007.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.469656|5.469656	0.96274|0.96274	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414007;ENST00000419187|ENST00000295713	T;T|.	0.38722|.	2.94;1.12|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.053404|.	0.85682|.	D|.	0.000000|.	T|T	0.79839|0.79839	0.4515|0.4515	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.76898|0.76898	-0.2789|-0.2789	6|3	0.27785|.	T|.	0.31|.	.|.	19.609|19.609	0.95594|0.95594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|R	785;243|838	ENSP00000390898:A785E;ENSP00000397990:A243E|.	ENSP00000390898:A785E|.	A|S	+|+	2|3	0|2	SRGAP2|SRGAP2	204698858|204698858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.336000|7.336000	0.79245|0.79245	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCG|AGC		0.542	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		A	206632235	C	A	206632235	3	1	186	1	0	0	0	0	1	0	0	0	15148	768	27	3	2592	3	SRGAP2	1	206632235	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09	49808533	206632235	42618386	4	10576											
LAMB3	3914	genome.wustl.edu	37	1	209790790	209790790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr1:209790790C>A	ENST00000356082.4	-	21	3327	c.3193G>T	c.(3193-3195)Gaa>Taa	p.E1065*	LAMB3_ENST00000391911.1_Nonsense_Mutation_p.E1065*|LAMB3_ENST00000367030.3_Nonsense_Mutation_p.E1065*	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1065	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.E1065*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGGCACCTTCCGCAAGCTGC	0.627																																																1	Substitution - Nonsense(1)	ovary(1)	1											77	74	75					1																	209790790		2203	4300	6503	207857413	SO:0001587	stop_gained	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3193G>T	1.37:g.209790790C>A	ENSP00000348384:p.Glu1065*		207857413	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Nonsense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	38	7.107272	0.98066	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	.	.	.	5.77	1.44	0.22558	.	0.529886	0.20647	N	0.088292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.6558	0.22986	0.0:0.6166:0.1404:0.2431	.	.	.	.	X	1065;1065;1065;134	.	ENSP00000348384:E1065X	E	-	1	0	LAMB3	207857413	0.000000	0.05858	0.005000	0.12908	0.276000	0.26787	-0.218000	0.09240	0.371000	0.24564	0.456000	0.33151	GAA		0.627	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		A	209790790	C	A	209790790	4	1	186	1	0	0	0	0	0	1	0	0	8612	864	30	3	337	3	LAMB3	1	209790790	Nonsense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09	3158555	209790790	39459831	5	10577											
CAPN9	10753	genome.wustl.edu	37	1	230928621	230928621	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr1:230928621A>T	ENST00000271971.2	+	17	1930	c.1817A>T	c.(1816-1818)gAc>gTc	p.D606V	CAPN9_ENST00000354537.1_Missense_Mutation_p.D580V|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000366666.2_Missense_Mutation_p.D543V	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	606	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.D580V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TTTGATGCTGACAAGTCCGGC	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											157	159	158					1																	230928621		2203	4300	6503	228995244	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1817A>T	1.37:g.230928621A>T	ENSP00000271971:p.Asp606Val		228995244	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304357	0.81136	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.77229	-1.08;-1.08;-1.08	5.49	5.49	0.81192	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93028	0.7781	H	0.98965	4.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.996	D	0.95715	0.8761	10	0.87932	D	0	.	15.2417	0.73476	1.0:0.0:0.0:0.0	.	543;580;606	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	V	606;580;543	ENSP00000271971:D606V;ENSP00000346538:D580V;ENSP00000355626:D543V	ENSP00000271971:D606V	D	+	2	0	CAPN9	228995244	1.000000	0.71417	0.988000	0.46212	0.971000	0.66376	6.965000	0.76067	2.082000	0.62665	0.533000	0.62120	GAC		0.507	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		T	230928621	A	T	230928621	3	4	186	1	0	0	0	0	1	0	0	0	2632	275	10	5	1883	5	CAPN9	1	230928621	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09	21137831	230928621	18322000	6	10578											
PLD5	200150	genome.wustl.edu	37	1	242277237	242277237	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr1:242277237A>C	ENST00000536534.2	-	7	1266	c.1025T>G	c.(1024-1026)aTc>aGc	p.I342S	PLD5_ENST00000442594.2_Missense_Mutation_p.I250S|PLD5_ENST00000427495.1_Missense_Mutation_p.I280S			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	342						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.I250S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CATGACAGCGATGTACACATA	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											194	145	162					1																	242277237		2203	4300	6503	240343860	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1025T>G	1.37:g.242277237A>C	ENSP00000440896:p.Ile342Ser		240343860	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062365	0.76187	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.37411	1.2;1.2;1.2	5.48	5.48	0.80851	Phospholipase D/viral envelope (1);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.88241	2.94	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.72075	0.976;0.966;0.976	T	0.72811	-0.4180	10	0.87932	D	0	-14.6395	13.8095	0.63253	1.0:0.0:0.0:0.0	.	250;342;280	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	S	280;250;342	ENSP00000401285:I280S;ENSP00000414188:I250S;ENSP00000440896:I342S	ENSP00000401285:I280S	I	-	2	0	PLD5	240343860	1.000000	0.71417	0.992000	0.48379	0.892000	0.51952	7.485000	0.81204	2.078000	0.62432	0.523000	0.50628	ATC		0.453	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		C	242277237	A	C	242277237	3	2	186	1	0	0	0	0	1	0	0	0	12049	333	12	5	601	5	PLD5	1	242277237	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09	11348616	242277237	6973384	7	10579											
PELI1	57162	genome.wustl.edu	37	2	64322049	64322050	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	TC	TC	TC	AT	TC	TC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr2:64322049_64322050TC>AT	ENST00000358912.4	-	7	1485_1486	c.1043_1044GA>AT	c.(1042-1044)gGA>gAT	p.G348D		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	348					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CAGCTTCACATCCAAGCCACAG	0.49																																																0			2																																								64175554	SO:0001583	missense	57162				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.1043_1044delinsAT	2.37:g.64322049_64322050delinsAT	ENSP00000351789:p.Gly348Asp		64175553	Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	DNP	ENST00000358912.4	37	CCDS1876.1																																																																																				0.49	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		AT	64322050	TC	AT	64322049	3	1	186	1	0	0	0	0	1	0	0	0	11721	1422	50	5	216	5	PELI1	2	64322049	Missense_Mutation	DNP	TC	TCGA-23-1118-01A-01W-0488-09		64322049	178877324	8	10580											
GGCX	2677	genome.wustl.edu	37	2	85785630	85785643	+	Frame_Shift_Del	DEL	TCCATGATGTCTTG	TCCATGATGTCTTG	-	rs371283360		TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	TCCATGATGTCTTG	TCCATGATGTCTTG	TCCATGATGTCTTG	-	TCCATGATGTCTTG	TCCATGATGTCTTG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr2:85785630_85785643delTCCATGATGTCTTG	ENST00000233838.4	-	4	539_552	c.459_472delCAAGACATCATGGA	c.(457-474)gacaagacatcatggaacfs	p.DKTSWN153fs	GGCX_ENST00000430215.3_Frame_Shift_Del_p.DKTSWN96fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	153					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.D153fs*33(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GAGTGGTTGTTCCATGATGTCTTGTCCAGGAGAA	0.514																																																1	Deletion - Frameshift(1)	ovary(1)	2	GRCh37	CM064017	GGCX	M																																				85639154	SO:0001589	frameshift_variant	2677				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.459_472delCAAGACATCATGGA	2.37:g.85785630_85785643delTCCATGATGTCTTG	ENSP00000233838:p.Asp153fs		85639141	B4DMC5|E9PEE1|Q14415|Q6GU45	Frame_Shift_Del	DEL	ENST00000233838.4	37	CCDS1978.1																																																																																				0.514	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		-	85785643	TCCATGATGTCTTG	-	85785630	7	5	186	1	0	1	0	1	0	0	0	0	6356	1783	62	0	1852	0	GGCX	2	85785630	Frame_Shift_Del	DEL	TCCATGATGTCTTG	TCGA-23-1118-01A-01W-0488-09	21463581	85785630	157413743	9	10581											
ZC3H6	376940	genome.wustl.edu	37	2	113088582	113088582	+	Splice_Site	SNP	A	A	G			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr2:113088582A>G	ENST00000409871.1	+	12	2488	c.2087A>G	c.(2086-2088)gAt>gGt	p.D696G	ZC3H6_ENST00000343936.4_Splice_Site_p.D696G|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	696							metal ion binding (GO:0046872)	p.D696G(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTGCATTTAGATGATACAGTT	0.229																																																1	Substitution - Missense(1)	ovary(1)	2											22	17	19					2																	113088582		1763	3987	5750	112805053	SO:0001630	splice_region_variant	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2087-1A>G	2.37:g.113088582A>G			112805053	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736116	0.49045	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.14391	2.51;2.51	5.4	5.4	0.78164	.	0.052835	0.64402	D	0.000001	T	0.14356	0.0347	L	0.43152	1.355	0.58432	D	0.999991	P	0.43750	0.816	B	0.39840	0.311	T	0.03493	-1.1031	9	.	.	.	.	15.7209	0.77710	1.0:0.0:0.0:0.0	.	696	P61129	ZC3H6_HUMAN	G	696;696;673	ENSP00000386764:D696G;ENSP00000340298:D696G	.	D	+	2	0	ZC3H6	112805053	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.775000	0.75018	2.173000	0.68751	0.533000	0.62120	GAT		0.229	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	Missense_Mutation	G	113088582	A	G	113088582	5	3	186	1	0	0	0	0	0	0	1	0	17571	347	12	4	2133	4	ZC3H6	2	113088582	Splice_Site	SNP	A	TCGA-23-1118-01A-01W-0488-09	27302952	113088582	130110791	10	10582											
PKP4	8502	genome.wustl.edu	37	2	159477843	159477843	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr2:159477843G>C	ENST00000389759.3	+	6	625	c.513G>C	c.(511-513)aaG>aaC	p.K171N	PKP4_ENST00000389757.3_Missense_Mutation_p.K171N	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	171					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.K171N(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						ACGTGAGCAAGGCAGACAACA	0.443										HNSCC(62;0.18)																																						1	Substitution - Missense(1)	ovary(1)	2											140	117	125					2																	159477843		2203	4300	6503	159186089	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.513G>C	2.37:g.159477843G>C	ENSP00000374409:p.Lys171Asn		159186089	Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673457	0.67928	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.75050	-0.9;-0.9	5.79	1.87	0.25490	.	0.269624	0.41938	D	0.000797	T	0.77519	0.4142	L	0.44542	1.39	0.51482	D	0.999927	D;D;D;D	0.71674	0.993;0.994;0.996;0.998	P;P;P;D	0.65573	0.893;0.785;0.711;0.936	T	0.75536	-0.3283	10	0.44086	T	0.13	-18.9021	11.0315	0.47776	0.3227:0.0:0.6773:0.0	.	23;171;171;23	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	N	23;171;171	ENSP00000374407:K171N;ENSP00000374409:K171N	ENSP00000374407:K171N	K	+	3	2	PKP4	159186089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.239000	0.32719	0.750000	0.32877	0.655000	0.94253	AAG		0.443	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			C	159477843	G	C	159477843	3	2	186	1	0	0	0	0	1	0	0	0	11987	991	35	3	531	3	PKP4	2	159477843	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	46389261	159477843	83721530	11	10583											
ASNSD1	54529	genome.wustl.edu	37	2	190531843	190531843	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr2:190531843G>T	ENST00000260952.4	+	4	1398	c.985G>T	c.(985-987)Ggc>Tgc	p.G329C	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	329	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.G329C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GTTTTCTGGGGGCATTGATTC	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											213	203	206					2																	190531843		2203	4300	6503	190240088	SO:0001583	missense	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.985G>T	2.37:g.190531843G>T	ENSP00000260952:p.Gly329Cys		190240088	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523175	0.85600	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	D;D	0.97642	-4.47;-4.47	6.17	6.17	0.99709	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.042911	0.85682	D	0.000000	D	0.99152	0.9707	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98826	1.0749	10	0.87932	D	0	-0.0047	20.8794	0.99867	0.0:0.0:1.0:0.0	.	329	Q9NWL6	ASND1_HUMAN	C	329	ENSP00000260952:G329C;ENSP00000406790:G329C	ENSP00000260952:G329C	G	+	1	0	ASNSD1	190240088	1.000000	0.71417	0.957000	0.39632	0.998000	0.95712	9.430000	0.97488	2.941000	0.99782	0.655000	0.94253	GGC		0.393	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		T	190531843	G	T	190531843	3	4	186	1	0	0	0	0	1	0	0	0	1049	1232	43	3	987	3	ASNSD1	2	190531843	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	31054000	190531843	52667530	12	10584											
CRBN	51185	genome.wustl.edu	37	3	3215765	3215765	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr3:3215765T>C	ENST00000231948.4	-	3	377	c.355A>G	c.(355-357)Acc>Gcc	p.T119A	CRBN_ENST00000432408.2_Missense_Mutation_p.T118A	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	119	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)	p.T119A(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	ACAGCAAAGGTTCTATCTTTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	3											87	88	88					3																	3215765		2203	4300	6503	3190765	SO:0001583	missense	51185			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"mental retardation, non-syndromic, autosomal recessive, 2A"	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.355A>G	3.37:g.3215765T>C	ENSP00000231948:p.Thr119Ala		3190765	B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	CCDS2562.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244536	0.79912	.	.	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	T;T	0.39787	1.06;1.06	5.75	5.75	0.90469	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.992	D;D;D	0.85130	0.997;0.98;0.989	T	0.51434	-0.8706	10	0.10111	T	0.7	-19.6453	16.0563	0.80809	0.0:0.0:0.0:1.0	.	56;118;119	F5H3U1;Q96SW2-2;Q96SW2	.;.;CRBN_HUMAN	A	119;118;56	ENSP00000231948:T119A;ENSP00000412499:T118A	ENSP00000231948:T119A	T	-	1	0	CRBN	3190765	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.855000	0.86950	2.183000	0.69458	0.528000	0.53228	ACC		0.408	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		C	3215765	T	C	3215765	3	2	186	1	0	0	0	0	1	0	0	0	3851	1725	60	4	1009	4	CRBN	3	3215765	Missense_Mutation	SNP	T	TCGA-23-1118-01A-01W-0488-09		3215765	194806665	13	10585											
CDCP1	64866	genome.wustl.edu	37	3	45127495	45127495	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr3:45127495G>C	ENST00000296129.1	-	9	2280	c.2146C>G	c.(2146-2148)Ccg>Gcg	p.P716A		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	716						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P716A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGCTGCCTCGGCATCTCAGTA	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											204	200	202					3																	45127495		2203	4300	6503	45102499	SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2146C>G	3.37:g.45127495G>C	ENSP00000296129:p.Pro716Ala		45102499	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776772	0.49786	.	.	ENSG00000163814	ENST00000296129	T	0.34667	1.35	5.7	5.7	0.88788	.	0.048676	0.85682	D	0.000000	T	0.56702	0.2003	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.58216	-0.7675	10	0.62326	D	0.03	.	13.0801	0.59109	0.0732:0.0:0.9268:0.0	.	716	Q9H5V8	CDCP1_HUMAN	A	716	ENSP00000296129:P716A	ENSP00000296129:P716A	P	-	1	0	CDCP1	45102499	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	4.278000	0.58946	2.692000	0.91855	0.467000	0.42956	CCG		0.448	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		C	45127495	G	C	45127495	3	2	186	1	0	0	0	0	1	0	0	0	3093	1203	42	3	368	3	CDCP1	3	45127495	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	41911730	45127495	152894935	14	10586											
C3orf63	23272	genome.wustl.edu	37	3	56675697	56675697	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr3:56675697C>G	ENST00000493960.2	-	15	2309	c.2299G>C	c.(2299-2301)Gac>Cac	p.D767H	FAM208A_ENST00000355628.5_Missense_Mutation_p.D767H|FAM208A_ENST00000431842.2_Missense_Mutation_p.D371H	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	767							poly(A) RNA binding (GO:0044822)	p.D371H(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTATGGATGTCAGCAATGCCG	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											108	99	102					3																	56675697		2203	4300	6503	56650737	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2299G>C	3.37:g.56675697C>G	ENSP00000417509:p.Asp767His		56650737	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548060	0.65311	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.15372	2.43;2.58;2.57	5.99	4.21	0.49690	.	0.151519	0.46758	D	0.000274	T	0.25195	0.0612	L	0.27053	0.805	0.44611	D	0.997586	D;D;D	0.64830	0.972;0.98;0.994	P;P;D	0.63877	0.805;0.835;0.919	T	0.01587	-1.1318	10	0.72032	D	0.01	-4.5504	11.0919	0.48121	0.0:0.858:0.0:0.142	.	767;767;371	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	H	371;767;767	ENSP00000399410:D371H;ENSP00000417509:D767H;ENSP00000347845:D767H	ENSP00000347845:D767H	D	-	1	0	C3orf63	56650737	1.000000	0.71417	0.603000	0.28903	0.655000	0.38815	2.478000	0.45189	0.872000	0.35775	0.655000	0.94253	GAC		0.478	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		G	56675697	C	G	56675697	3	3	186	1	0	0	0	0	1	0	0	0	2239	826	29	3	2813	3	C3orf63	3	56675697	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09	11548202	56675697	141346733	15	10587											
CORIN	10699	genome.wustl.edu	37	4	47667238	47667238	+	Missense_Mutation	SNP	G	G	C	rs193921036		TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr4:47667238G>C	ENST00000273857.4	-	11	1399	c.1400C>G	c.(1399-1401)cCc>cGc	p.P467R	CORIN_ENST00000504584.1_Missense_Mutation_p.P430R|CORIN_ENST00000508498.1_Missense_Mutation_p.P328R|CORIN_ENST00000505909.1_Missense_Mutation_p.P430R|CORIN_ENST00000502252.1_Missense_Mutation_p.P400R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	467	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.P467R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACTGTTGTAGGGCAAATTCAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											90	89	90					4																	47667238		2203	4300	6503	47361995	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1400C>G	4.37:g.47667238G>C	ENSP00000273857:p.Pro467Arg		47361995	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125901	0.56721	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.25	5.25	0.73442	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.997;0.997	D	0.91486	0.5208	10	0.59425	D	0.04	.	19.0552	0.93062	0.0:0.0:1.0:0.0	.	430;430;400;467	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	R	467;328;400;430;430	ENSP00000273857:P467R;ENSP00000425597:P328R;ENSP00000424212:P400R;ENSP00000425401:P430R;ENSP00000423216:P430R	ENSP00000273857:P467R	P	-	2	0	CORIN	47361995	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	8.853000	0.92222	2.729000	0.93468	0.650000	0.86243	CCC		0.358	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			C	47667238	G	C	47667238	3	2	186	1	0	0	0	0	1	0	0	0	3752	1232	43	3	1776	3	CORIN	4	47667238	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09		47667238	143487038	16	10588											
FGF2	11162	genome.wustl.edu	37	4	123813548	123813548	+	IGR	SNP	C	C	G			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr4:123813548C>G	ENST00000304430.5	-	0	1169				FGF2_ENST00000608478.1_Missense_Mutation_p.S155R|NUDT6_ENST00000608639.1_Intron|FGF2_ENST00000264498.3_Missense_Mutation_p.S288R	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6							mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.S288R(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CTGCTAAGAGCTGATTTTAAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	4											110	106	107					4																	123813548		2203	4300	6503	124032998	SO:0001628	intergenic_variant	2247			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507		4.37:g.123813548C>G			124032998	A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741864	0.69304	.	.	ENSG00000138685	ENST00000264498	T	0.79653	-1.29	5.54	4.7	0.59300	.	0.241565	0.41396	D	0.000893	T	0.81645	0.4866	N	0.21448	0.665	0.31099	N	0.710612	D	0.76494	0.999	D	0.73708	0.981	D	0.86552	0.1835	9	0.87932	D	0	.	11.1609	0.48516	0.0:0.8532:0.0:0.1468	.	288	P09038	FGF2_HUMAN	R	288	ENSP00000264498:S288R	ENSP00000264498:S288R	S	+	3	2	FGF2	124032998	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.972000	0.49256	1.339000	0.45563	0.585000	0.79938	AGC		0.353	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		G	123813548	C	G	123813548	1	3	186	0	1	0	0	0	0	0	0	0	5848	796	28	3		3	FGF2	4	123813548	IGR	SNP	C	TCGA-23-1118-01A-01W-0488-09	76146310	123813548	67340728	17	10589											
TRIM23	373	genome.wustl.edu	37	5	64892342	64892342	+	Silent	SNP	A	A	G			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr5:64892342A>G	ENST00000231524.9	-	9	1697	c.1326T>C	c.(1324-1326)acT>acC	p.T442T	TRIM23_ENST00000274327.7_Silent_p.T442T|TRIM23_ENST00000381018.3_Silent_p.T442T	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	442	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T442T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TATATTCTACAGTTTCCACGT	0.289																																																1	Substitution - coding silent(1)	ovary(1)	5											88	88	88					5																	64892342		2201	4291	6492	64928098	SO:0001819	synonymous_variant	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1326T>C	5.37:g.64892342A>G			64928098	Q9BZY4|Q9BZY5	Silent	SNP	ENST00000231524.9	37	CCDS3987.1																																																																																				0.289	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		G	64892342	A	G	64892342	2	3	186	1	0	0	0	0	0	0	0	1	16497	175	7	4		4	TRIM23	5	64892342	Silent	SNP	A	TCGA-23-1118-01A-01W-0488-09		64892342	116022918	18	10590											
ANKHD1	54882	genome.wustl.edu	37	5	139903719	139903719	+	Silent	SNP	G	G	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr5:139903719G>A	ENST00000360839.2	+	25	4540	c.4386G>A	c.(4384-4386)aaG>aaA	p.K1462K	ANKHD1_ENST00000544120.1_5'Flank|ANKHD1_ENST00000297183.6_Silent_p.K1462K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1462K	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1462						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K1462K(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			agagaaaaaagaaaaaagagg	0.358																																																2	Substitution - coding silent(2)	ovary(2)	5											76	75	76					5																	139903719		2203	4299	6502	139883903	SO:0001819	synonymous_variant	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4386G>A	5.37:g.139903719G>A			139883903	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.981989	0.18812	.	.	ENSG00000131503	ENST00000310356	.	.	.	5.0	4.12	0.48240	.	.	.	.	.	T	0.63593	0.2524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62011	-0.6944	4	.	.	.	.	12.6156	0.56576	0.082:0.0:0.918:0.0	.	.	.	.	K	996	.	.	E	+	1	0	ANKHD1	139883903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.350000	0.73017	1.233000	0.43693	0.650000	0.86243	GAA		0.358	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		A	139903719	G	A	139903719	2	1	186	1	0	0	0	0	0	0	0	1	628	933	33	2		2	ANKHD1	5	139903719	Silent	SNP	G	TCGA-23-1118-01A-01W-0488-09	75011377	139903719	41011541	19	10591											
SYNGAP1	8831	genome.wustl.edu	37	6	33405745	33405745	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr6:33405745G>A	ENST00000418600.2	+	8	1164	c.1063G>A	c.(1063-1065)Ggg>Agg	p.G355R	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.G296R|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.G355R|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	355					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.G340R(1)|p.G355R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CACCCTGGCTGGGCGCCACTT	0.647																																																2	Substitution - Missense(2)	ovary(2)	6											45	44	44					6																	33405745		2203	4300	6503	33513723	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1063G>A	6.37:g.33405745G>A	ENSP00000403636:p.Gly355Arg		33513723	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326020	0.81580	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.38401	1.14;1.14;1.14	4.75	4.75	0.60458	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.126702	0.53938	D	0.000058	T	0.50956	0.1646	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.983	D;D;D;D	0.97110	0.999;1.0;1.0;0.923	T	0.55159	-0.8184	10	0.87932	D	0	.	15.2813	0.73787	0.0:0.0:1.0:0.0	.	355;355;355;355	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	R	355;355;355;296	ENSP00000293748:G355R;ENSP00000403636:G355R;ENSP00000412475:G296R	ENSP00000293748:G355R	G	+	1	0	SYNGAP1	33513723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.446000	0.82766	0.655000	0.94253	GGG		0.647	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		A	33405745	G	A	33405745	3	1	186	1	0	0	0	0	1	0	0	0	15447	1348	47	2	1093	2	SYNGAP1	6	33405745	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09		33405745	137709322	20	10592											
ME1	4199	genome.wustl.edu	37	6	83926303	83926303	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr6:83926303G>T	ENST00000369705.3	-	13	1578	c.1462C>A	c.(1462-1464)Caa>Aaa	p.Q488K	ME1_ENST00000541327.1_Missense_Mutation_p.Q322K|ME1_ENST00000543031.1_Missense_Mutation_p.Q413K	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	488					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.Q488K(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TCTGACACTTGCTGAGCTATA	0.363																																																1	Substitution - Missense(1)	ovary(1)	6											85	91	89					6																	83926303		2203	4300	6503	83983022	SO:0001583	missense	4199			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1462C>A	6.37:g.83926303G>T	ENSP00000358719:p.Gln488Lys		83983022	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227494	0.39399	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.29917	1.55;1.55;1.55	5.41	3.47	0.39725	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.361383	0.32608	N	0.005863	T	0.18509	0.0444	L	0.59436	1.845	0.35551	D	0.803846	B	0.21753	0.06	B	0.26693	0.072	T	0.08722	-1.0708	10	0.27785	T	0.31	-10.5691	16.9189	0.86159	0.0:0.3312:0.6688:0.0	.	488	P48163	MAOX_HUMAN	K	488;148;322;413	ENSP00000358719:Q488K;ENSP00000439912:Q322K;ENSP00000446114:Q413K	ENSP00000358719:Q488K	Q	-	1	0	ME1	83983022	0.989000	0.36119	1.000000	0.80357	0.986000	0.74619	0.812000	0.27211	1.393000	0.46605	0.650000	0.86243	CAA		0.363	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			T	83926303	G	T	83926303	3	4	186	1	0	0	0	0	1	0	0	0	9417	1328	46	3	264	3	ME1	6	83926303	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	50520558	83926303	87188764	21	10593											
VNN1	8876	genome.wustl.edu	37	6	133004364	133004364	+	Nonsense_Mutation	SNP	G	G	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr6:133004364G>C	ENST00000367928.4	-	7	1470	c.1457C>G	c.(1456-1458)tCa>tGa	p.S486*		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	486					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.S486*(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TGAAGCATTTGATGCCCAGTC	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	6											143	131	135					6																	133004364		2203	4300	6503	133046057	SO:0001587	stop_gained	8876			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1457C>G	6.37:g.133004364G>C	ENSP00000356905:p.Ser486*		133046057	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Nonsense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688968	0.68271	.	.	ENSG00000112299	ENST00000367928	.	.	.	5.86	-0.294	0.12831	.	1.217070	0.05699	N	0.593683	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-25.3861	1.4841	0.02443	0.278:0.2367:0.3638:0.1215	.	.	.	.	X	486	.	ENSP00000356905:S486X	S	-	2	0	VNN1	133046057	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	0.243000	0.18106	-0.371000	0.08004	0.650000	0.86243	TCA		0.418	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			C	133004364	G	C	133004364	4	2	186	1	0	0	0	0	0	1	0	0	17182	1294	45	3	88	3	VNN1	6	133004364	Nonsense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	49078061	133004364	38110703	22	10594											
SLC35D3	340146	genome.wustl.edu	37	6	137245563	137245563	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr6:137245563G>C	ENST00000331858.4	+	2	1145	c.980G>C	c.(979-981)gGa>gCa	p.G327A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	327					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)		p.G327A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CAGCTAAGTGGAGACCAGCTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											28	30	29					6																	137245563		2203	4300	6503	137287256	SO:0001583	missense	340146				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"Solute carriers"	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.980G>C	6.37:g.137245563G>C	ENSP00000333591:p.Gly327Ala		137287256	B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430201	0.62844	.	.	ENSG00000182747	ENST00000331858	T	0.59224	0.28	5.99	5.99	0.97316	.	0.256834	0.39687	N	0.001285	T	0.61912	0.2385	L	0.27053	0.805	0.51233	D	0.999915	D	0.76494	0.999	D	0.85130	0.997	T	0.63233	-0.6683	10	0.54805	T	0.06	-7.6185	20.4724	0.99163	0.0:0.0:1.0:0.0	.	327	Q5M8T2	S35D3_HUMAN	A	327	ENSP00000333591:G327A	ENSP00000333591:G327A	G	+	2	0	SLC35D3	137287256	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.758000	0.62220	2.848000	0.98002	0.609000	0.83330	GGA		0.617	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		C	137245563	G	C	137245563	3	2	186	1	0	0	0	0	1	0	0	0	14586	1174	41	3	986	3	SLC35D3	6	137245563	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	4241199	137245563	33869504	23	10595											
TRRAP	8295	genome.wustl.edu	37	7	98592278	98592278	+	Silent	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr7:98592278G>T	ENST00000359863.4	+	66	10283	c.10074G>T	c.(10072-10074)gtG>gtT	p.V3358V	TRRAP_ENST00000446306.3_Silent_p.V3347V|TRRAP_ENST00000355540.3_Silent_p.V3329V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3358					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.V3329V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGAGCGGTGTCCGATGCTA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	7											197	186	189					7																	98592278		2203	4300	6503	98430214	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10074G>T	7.37:g.98592278G>T			98430214	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	4.929	0.172694	0.09391	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.05	3.0	0.34707	.	.	.	.	.	T	0.56659	0.2000	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52193	-0.8608	4	.	.	.	.	8.0923	0.30807	0.0939:0.0:0.6716:0.2345	.	.	.	.	F	3087	.	.	C	+	2	0	TRRAP	98430214	1.000000	0.71417	0.959000	0.39883	0.547000	0.35210	2.076000	0.41548	1.091000	0.41335	0.462000	0.41574	TGT		0.517	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98592278	G	T	98592278	2	4	186	1	0	0	0	0	0	0	0	1	16601	1364	48	3		3	TRRAP	7	98592278	Silent	SNP	G	TCGA-23-1118-01A-01W-0488-09		98592278	60546385	24	10596											
ZKSCAN1	7586	genome.wustl.edu	37	7	99621928	99621928	+	Missense_Mutation	SNP	G	G	A	rs148037051	byFrequency	TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr7:99621928G>A	ENST00000324306.6	+	3	812	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R157Q|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	193					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.R193Q(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTACAGTCACGAGGTAAGAAG	0.512													G|||	3	0.000599042	0.0015	0	5008	,	,		18560	0.001		0	False		,,,				2504	0															2	Substitution - Missense(2)	urinary_tract(1)|ovary(1)	7						G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	59	53	55		578	2.5	0.5	7	dbSNP_134	55	0,8600		0,0,4300	yes	missense	ZKSCAN1	NM_003439.1	43	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	193/564	99621928	4,13002	2203	4300	6503	99459864	SO:0001583	missense	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.578G>A	7.37:g.99621928G>A	ENSP00000323148:p.Arg193Gln		99459864	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	13.96	2.391957	0.42410	9.08E-4	0.0	ENSG00000106261	ENST00000324306;ENST00000426572	T;T	0.06608	3.32;3.28	4.51	2.46	0.29980	.	0.179711	0.26875	N	0.022049	T	0.03263	0.0095	N	0.08118	0	0.20307	N	0.999913	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40979	-0.9534	10	0.42905	T	0.14	.	7.5794	0.27955	0.1895:0.0:0.8105:0.0	.	193;157	P17029;E9PC66	ZKSC1_HUMAN;.	Q	193;157	ENSP00000323148:R193Q;ENSP00000409172:R157Q	ENSP00000323148:R193Q	R	+	2	0	ZKSCAN1	99459864	0.277000	0.24220	0.524000	0.27887	0.964000	0.63967	1.331000	0.33793	0.391000	0.25143	0.491000	0.48974	CGA		0.512	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		A	99621928	G	A	99621928	3	1	186	1	0	0	0	0	1	0	0	0	17686	1058	37	1	584	1	ZKSCAN1	7	99621928	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	1029650	99621928	59516735	25	10597											
GSR	2936	genome.wustl.edu	37	8	30567420	30567420	+	Splice_Site	DEL	C	C	-			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	-	C	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr8:30567420delC	ENST00000221130.5	-	3	424		c.e3-1		GSR_ENST00000414019.1_Splice_Site|GSR_ENST00000541648.1_Splice_Site|GSR_ENST00000537535.1_Splice_Site|GSR_ENST00000546342.1_Splice_Site	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase						cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TCCACATTACCTGTAAAAAAA	0.368																																																1	Unknown(1)	ovary(1)	8											42	38	39					8																	30567420		2203	4300	6503	30686962	SO:0001630	splice_region_variant	2936				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.334-1G>-	8.37:g.30567420delC			30686962	C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Splice_Site	DEL	ENST00000221130.5	37	CCDS34877.1																																																																																				0.368	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1		Intron	-	30567420	C	-	30567420	8	5	186	1	0	1	0	1	0	0	1	0	6828	695	24	0	1279	0	GSR	8	30567420	Splice_Site	DEL	C	TCGA-23-1118-01A-01W-0488-09		30567420	115796602	26	10598											
PENK	5179	genome.wustl.edu	37	8	57353989	57353989	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr8:57353989T>C	ENST00000314922.3	-	2	722	c.646A>G	c.(646-648)Aga>Gga	p.R216G	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.R216G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	216					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.R216G(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CGACCTACTCTTCTCATGAAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	8											103	104	104					8																	57353989		2203	4300	6503	57516543	SO:0001583	missense	5179				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.646A>G	8.37:g.57353989T>C	ENSP00000324248:p.Arg216Gly		57516543	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934999	0.73442	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.19669	2.13;2.13	5.91	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57659	-0.7773	10	0.87932	D	0	-32.7907	12.3965	0.55389	0.0:0.0:0.1407:0.8593	.	216	P01210	PENK_HUMAN	G	216	ENSP00000324248:R216G;ENSP00000400894:R216G	ENSP00000324248:R216G	R	-	1	2	PENK	57516543	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.887000	0.48586	1.023000	0.39654	0.533000	0.62120	AGA		0.542	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			C	57353989	T	C	57353989	3	2	186	1	0	0	0	0	1	0	0	0	11727	1617	56	4	161	4	PENK	8	57353989	Missense_Mutation	SNP	T	TCGA-23-1118-01A-01W-0488-09	26786569	57353989	89010033	27	10599											
MELK	9833	genome.wustl.edu	37	9	36671029	36671029	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr9:36671029C>T	ENST00000298048.2	+	16	1724	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y	MELK_ENST00000543751.1_Missense_Mutation_p.H482Y|MELK_ENST00000536860.1_Missense_Mutation_p.H466Y|MELK_ENST00000536329.1_Missense_Mutation_p.H443Y|MELK_ENST00000545008.1_Missense_Mutation_p.H443Y|MELK_ENST00000538311.1_Missense_Mutation_p.H320Y|MELK_ENST00000541717.1_Missense_Mutation_p.H473Y|MELK_ENST00000536987.1_Missense_Mutation_p.H383Y	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	514	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.H514Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CAACCAAGCACATATGGAGGA	0.502																																					Ovarian(82;980 1317 7225 14391 18624)											1	Substitution - Missense(1)	ovary(1)	9											102	100	101					9																	36671029		2203	4300	6503	36661029	SO:0001583	missense	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1540C>T	9.37:g.36671029C>T	ENSP00000298048:p.His514Tyr		36661029	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311412	0.60414	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.71698	-0.4;0.58;0.36;0.9;0.27;-0.59;-0.42;-0.41	5.95	5.06	0.68205	.	0.203413	0.51477	D	0.000085	T	0.69788	0.3150	M	0.65498	2.005	0.58432	D	0.999993	B;B;B;B;B;B;B	0.19331	0.013;0.035;0.003;0.001;0.024;0.003;0.002	B;B;B;B;B;B;B	0.21151	0.017;0.033;0.012;0.009;0.025;0.013;0.002	T	0.67499	-0.5655	10	0.48119	T	0.1	-10.8298	14.947	0.71039	0.0:0.9321:0.0:0.0679	.	434;443;466;473;443;482;514	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	Y	514;320;383;443;466;443;473;482	ENSP00000298048:H514Y;ENSP00000438226:H320Y;ENSP00000439184:H383Y;ENSP00000445452:H443Y;ENSP00000439792:H466Y;ENSP00000443550:H443Y;ENSP00000437804:H473Y;ENSP00000441596:H482Y	ENSP00000298048:H514Y	H	+	1	0	MELK	36661029	1.000000	0.71417	0.951000	0.38953	0.983000	0.72400	4.031000	0.57267	1.531000	0.49152	0.655000	0.94253	CAT		0.502	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		T	36671029	C	T	36671029	3	4	186	1	0	0	0	0	1	0	0	0	9470	478	17	2	1598	2	MELK	9	36671029	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09		36671029	104542402	28	10600											
CRTAC1	55118	genome.wustl.edu	37	10	99655652	99655652	+	Missense_Mutation	SNP	C	C	A	rs370948741		TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr10:99655652C>A	ENST00000370597.3	-	10	1662	c.1307G>T	c.(1306-1308)cGg>cTg	p.R436L	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R436L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R436L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	436						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R436L(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTGATTGCCCCGGAAGACGGA	0.612																																																1	Substitution - Missense(1)	ovary(1)	10											91	78	83					10																	99655652		2203	4300	6503	99645642	SO:0001583	missense	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1307G>T	10.37:g.99655652C>A	ENSP00000359629:p.Arg436Leu		99645642	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148456	0.57151	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.76968	1.19;-1.06;1.19;-0.22;-0.23	5.26	5.26	0.73747	.	0.227351	0.36893	N	0.002353	T	0.68311	0.2987	L	0.42744	1.35	0.34848	D	0.741369	B;B;B	0.33198	0.339;0.304;0.401	B;B;B	0.33568	0.166;0.1;0.117	T	0.76044	-0.3103	10	0.62326	D	0.03	-15.4908	6.8522	0.24020	0.0:0.7845:0.0:0.2155	.	436;436;332	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	L	332;436;436;428;436	ENSP00000408445:R332L;ENSP00000359629:R436L;ENSP00000298819:R436L;ENSP00000310810:R428L;ENSP00000359623:R436L	ENSP00000298819:R436L	R	-	2	0	CRTAC1	99645642	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	3.227000	0.51262	2.423000	0.82170	0.655000	0.94253	CGG		0.612	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		A	99655652	C	A	99655652	3	1	186	1	0	0	0	0	1	0	0	0	3896	652	23	3	702	3	CRTAC1	10	99655652	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09		99655652	35879095	29	10601											
C10orf2	56652	genome.wustl.edu	37	10	102748277	102748277	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr10:102748277A>T	ENST00000311916.2	+	1	495	c.310A>T	c.(310-312)Att>Ttt	p.I104F	MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.I104F|MRPL43_ENST00000493646.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	104					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.I104F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGCCTCTTCATTGACAAGAC	0.587																																																1	Substitution - Missense(1)	ovary(1)	10											119	125	123					10																	102748277		2203	4300	6503	102738267	SO:0001583	missense	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.310A>T	10.37:g.102748277A>T	ENSP00000309595:p.Ile104Phe		102738267	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.625553	0.66901	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.97041	-3.93;-4.22	5.51	5.51	0.81932	.	0.053009	0.64402	D	0.000001	D	0.97867	0.9299	M	0.65498	2.005	0.50039	D	0.999843	D;D	0.76494	0.999;0.999	D;D	0.68192	0.956;0.946	D	0.98348	1.0542	10	0.56958	D	0.05	-17.9654	14.4616	0.67453	1.0:0.0:0.0:0.0	.	104;104	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	F	104	ENSP00000309595:I104F;ENSP00000359248:I104F	ENSP00000309595:I104F	I	+	1	0	C10orf2	102738267	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.098000	0.64548	2.096000	0.63516	0.374000	0.22700	ATT		0.587	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		T	102748277	A	T	102748277	3	4	186	1	0	0	0	0	1	0	0	0	1597	217	8	5	312	5	C10orf2	10	102748277	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09	3092625	102748277	32786470	30	10602											
PNLIPRP3	119548	genome.wustl.edu	37	10	118236234	118236234	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr10:118236234A>T	ENST00000369230.3	+	11	1389	c.1243A>T	c.(1243-1245)Agt>Tgt	p.S415C		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	415	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.S415C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAACATTACAAGTGTTCAGTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	10											119	118	118					10																	118236234		2203	4300	6503	118226224	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1243A>T	10.37:g.118236234A>T	ENSP00000358232:p.Ser415Cys		118226224		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998153	0.35226	.	.	ENSG00000203837	ENST00000369230	T	0.65178	-0.14	3.88	2.71	0.32032	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.640922	0.13650	N	0.372357	T	0.64638	0.2616	L	0.40543	1.245	0.22342	N	0.999188	D	0.55605	0.972	P	0.58520	0.84	T	0.53222	-0.8469	10	0.87932	D	0	.	7.5342	0.27700	0.893:0.0:0.107:0.0	.	415	Q17RR3	LIPR3_HUMAN	C	415	ENSP00000358232:S415C	ENSP00000358232:S415C	S	+	1	0	PNLIPRP3	118226224	0.891000	0.30450	0.247000	0.24249	0.148000	0.21650	1.114000	0.31196	0.617000	0.30160	-0.290000	0.09829	AGT		0.338	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		T	118236234	A	T	118236234	3	4	186	1	0	0	0	0	1	0	0	0	12152	72	3	5	1285	5	PNLIPRP3	10	118236234	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09	15487957	118236234	17298513	31	10603											
IGSF22	283284	genome.wustl.edu	37	11	18730933	18730933	+	Splice_Site	SNP	C	C	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr11:18730933C>T	ENST00000513874.1	-	18	3138		c.e18+1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22									p.?(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGTGTCCTCACCTGGTGGTGG	0.562																																																1	Unknown(1)	ovary(1)	11											60	62	61					11																	18730933		1989	4156	6145	18687509	SO:0001630	splice_region_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2998+1G>A	11.37:g.18730933C>T			18687509	A6NNA0|D6RGV7	Splice_Site	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524059	0.64747	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.46	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5677	0.50815	0.1788:0.8212:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF22	18687509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.014000	0.49590	1.044000	0.40200	0.655000	0.94253	.		0.562	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	Intron	T	18730933	C	T	18730933	5	4	186	1	0	0	0	0	0	0	1	0	7600	521	18	2	1005	2	IGSF22	11	18730933	Splice_Site	SNP	C	TCGA-23-1118-01A-01W-0488-09		18730933	116275583	32	10604											
CKAP5	9793	genome.wustl.edu	37	11	46818491	46818491	+	Splice_Site	SNP	C	C	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr11:46818491C>T	ENST00000529230.1	-	12	1385		c.e12-1		CKAP5_ENST00000312055.5_Splice_Site|CKAP5_ENST00000415402.1_Splice_Site|CKAP5_ENST00000354558.3_Splice_Site|CKAP5_ENST00000532321.1_5'Flank			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.?(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CATTGATGTGCTATAGTCCAG	0.383																																					Ovarian(4;85 273 2202 4844 13323)											1	Unknown(1)	ovary(1)	11											113	101	105					11																	46818491		2201	4299	6500	46775067	SO:0001630	splice_region_variant	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1339-1G>A	11.37:g.46818491C>T			46775067	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Splice_Site	SNP	ENST00000529230.1	37	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757873	0.89843	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5394	0.95268	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CKAP5	46775067	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.776000	0.85560	2.703000	0.92315	0.650000	0.86243	.		0.383	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	Intron	T	46818491	C	T	46818491	5	4	186	1	0	0	0	0	0	0	1	0	3445	811	28	2	4892	2	CKAP5	11	46818491	Splice_Site	SNP	C	TCGA-23-1118-01A-01W-0488-09	28087558	46818491	88188025	33	10605											
PATL1	219988	genome.wustl.edu	37	11	59423058	59423058	+	Silent	SNP	G	G	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr11:59423058G>C	ENST00000300146.9	-	8	1053	c.969C>G	c.(967-969)ccC>ccG	p.P323P		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	323	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.P323P(1)		central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GTGTAGCGGAGGGTGGAGCAC	0.552																																																1	Substitution - coding silent(1)	ovary(1)	11											61	64	63					11																	59423058		1980	4147	6127	59179634	SO:0001819	synonymous_variant	219988			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.969C>G	11.37:g.59423058G>C			59179634	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	37	CCDS44613.1																																																																																				0.552	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		C	59423058	G	C	59423058	2	2	186	1	0	0	0	0	0	0	0	1	11475	987	35	3		3	PATL1	11	59423058	Silent	SNP	G	TCGA-23-1118-01A-01W-0488-09	12604567	59423058	75583458	34	10606											
SUV420H1	51111	genome.wustl.edu	37	11	67925805	67925805	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr11:67925805G>T	ENST00000304363.4	-	11	2361	c.2008C>A	c.(2008-2010)Cct>Act	p.P670T		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	670					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.P670T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACGGGTGAAGGAGCACAGTCT	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											89	79	82					11																	67925805		2200	4294	6494	67682381	SO:0001583	missense	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2008C>A	11.37:g.67925805G>T	ENSP00000305899:p.Pro670Thr		67682381	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379190	0.61735	.	.	ENSG00000110066	ENST00000304363	T	0.43688	0.94	5.04	3.15	0.36227	.	0.532175	0.19788	N	0.106057	T	0.26593	0.0650	N	0.19112	0.55	0.09310	N	0.999995	B	0.23442	0.085	B	0.19666	0.026	T	0.21008	-1.0258	10	0.72032	D	0.01	-5.0111	8.3334	0.32200	0.1448:0.1295:0.7257:0.0	.	670	Q4FZB7	SV421_HUMAN	T	670	ENSP00000305899:P670T	ENSP00000305899:P670T	P	-	1	0	SUV420H1	67682381	0.742000	0.28228	0.021000	0.16686	0.926000	0.56050	1.433000	0.34947	0.701000	0.31803	0.491000	0.48974	CCT		0.488	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		T	67925805	G	T	67925805	3	4	186	1	0	0	0	0	1	0	0	0	15414	1174	41	3	653	3	SUV420H1	11	67925805	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	8502747	67925805	67080711	35	10607											
CNTN1	1272	genome.wustl.edu	37	12	41419103	41419103	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr12:41419103C>A	ENST00000551295.2	+	21	2792	c.2675C>A	c.(2674-2676)cCa>cAa	p.P892Q	CNTN1_ENST00000347616.1_Missense_Mutation_p.P892Q|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Missense_Mutation_p.P881Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	892	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P892Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTGGACCTCCAAGTGACATG	0.473																																																1	Substitution - Missense(1)	ovary(1)	12											170	181	177					12																	41419103		2203	4300	6503	39705370	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2675C>A	12.37:g.41419103C>A	ENSP00000447006:p.Pro892Gln		39705370	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501718	0.85176	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57436	0.4;0.4;0.4	4.88	4.88	0.63580	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.179496	0.49916	D	0.000138	T	0.68256	0.2981	L	0.54323	1.7	0.80722	D	1	D;D	0.57257	0.974;0.979	D;D	0.67900	0.923;0.954	T	0.67929	-0.5543	10	0.48119	T	0.1	.	18.9334	0.92576	0.0:1.0:0.0:0.0	.	881;892	Q12860-2;Q12860	.;CNTN1_HUMAN	Q	892;892;881	ENSP00000447006:P892Q;ENSP00000325660:P892Q;ENSP00000261160:P881Q	ENSP00000325660:P892Q	P	+	2	0	CNTN1	39705370	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	7.174000	0.77620	2.631000	0.89168	0.655000	0.94253	CCA		0.473	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		A	41419103	C	A	41419103	3	1	186	1	0	0	0	0	1	0	0	0	3640	594	21	3	2753	3	CNTN1	12	41419103	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09		41419103	92432792	36	10608											
MARS	4141	genome.wustl.edu	37	12	57908505	57908505	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr12:57908505C>T	ENST00000262027.5	+	16	2104	c.1970C>T	c.(1969-1971)gCt>gTt	p.A657V	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.A423V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	657					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.A657V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CAACCAAGAGCTGGGATGTTT	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											226	231	229					12																	57908505		2203	4300	6503	56194772	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1970C>T	12.37:g.57908505C>T	ENSP00000262027:p.Ala657Val		56194772	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536665	0.85812	.	.	ENSG00000166986	ENST00000262027;ENST00000315473;ENST00000552914	T;T;T	0.39997	1.05;1.05;1.05	5.02	5.02	0.67125	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.107328	0.64402	D	0.000007	T	0.30634	0.0771	N	0.11673	0.155	0.80722	D	1	B;B	0.23591	0.007;0.088	B;B	0.34180	0.013;0.177	T	0.10042	-1.0647	10	0.22109	T	0.4	-12.1823	17.6356	0.88121	0.0:1.0:0.0:0.0	.	423;657	A6NC17;P56192	.;SYMC_HUMAN	V	657;423;13	ENSP00000262027:A657V;ENSP00000314653:A423V;ENSP00000449787:A13V	ENSP00000262027:A657V	A	+	2	0	MARS	56194772	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	5.340000	0.65958	2.767000	0.95098	0.591000	0.81541	GCT		0.502	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		T	57908505	C	T	57908505	3	4	186	1	0	0	0	0	1	0	0	0	9316	797	28	2	2032	2	MARS	12	57908505	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09	16489402	57908505	75943390	37	10609											
CCDC60	160777	genome.wustl.edu	37	12	119937928	119937928	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr12:119937928C>A	ENST00000327554.2	+	6	1068	c.603C>A	c.(601-603)gaC>gaA	p.D201E	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	201								p.D201E(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCAATAAGGACAAGTCCATGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											108	110	109					12																	119937928		2203	4300	6503	118422311	SO:0001583	missense	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.603C>A	12.37:g.119937928C>A	ENSP00000333374:p.Asp201Glu		118422311		Missense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079237	0.36662	.	.	ENSG00000183273	ENST00000327554	T	0.21191	2.02	5.57	3.52	0.40303	.	0.109649	0.40302	N	0.001128	T	0.16769	0.0403	L	0.50993	1.605	0.80722	D	1	P	0.36683	0.565	B	0.33690	0.168	T	0.01800	-1.1271	9	.	.	.	-34.3501	8.7776	0.34771	0.1661:0.6731:0.1608:0.0	.	201	Q8IWA6	CCD60_HUMAN	E	201	ENSP00000333374:D201E	.	D	+	3	2	CCDC60	118422311	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.272000	0.18644	2.599000	0.87857	0.650000	0.86243	GAC		0.463	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		A	119937928	C	A	119937928	3	1	186	1	0	0	0	0	1	0	0	0	2831	477	17	3	625	3	CCDC60	12	119937928	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09	62029423	119937928	13913967	38	10610											
TMEM132B	114795	genome.wustl.edu	37	12	126068411	126068411	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr12:126068411G>T	ENST00000299308.3	+	5	1301	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	431						integral component of membrane (GO:0016021)		p.L431F(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCGAGGTTTTGAACACTGCCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											227	222	224					12																	126068411		1983	4137	6120	124634364	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1293G>T	12.37:g.126068411G>T	ENSP00000299308:p.Leu431Phe		124634364	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176264	0.38413	.	.	ENSG00000139364	ENST00000299308	T	0.52754	0.65	4.83	3.87	0.44632	.	0.000000	0.30464	U	0.009576	T	0.61375	0.2342	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.62973	-0.6740	10	0.56958	D	0.05	.	6.589	0.22636	0.0979:0.2984:0.6038:0.0	.	431	Q14DG7	T132B_HUMAN	F	431	ENSP00000299308:L431F	ENSP00000299308:L431F	L	+	3	2	TMEM132B	124634364	0.997000	0.39634	1.000000	0.80357	0.157000	0.22087	0.274000	0.18680	2.218000	0.71995	0.655000	0.94253	TTG		0.542	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126068411	G	T	126068411	3	4	186	1	0	0	0	0	1	0	0	0	16046	1281	45	3	1311	3	TMEM132B	12	126068411	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	6130483	126068411	7783484	39	10611											
STARD13	90627	genome.wustl.edu	37	13	33716466	33716466	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr13:33716466A>T	ENST00000336934.5	-	4	484	c.368T>A	c.(367-369)gTg>gAg	p.V123E	STARD13_ENST00000255486.4_Missense_Mutation_p.V115E|STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_Missense_Mutation_p.V5E	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	123					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.V123E(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTGGAAGTTCACATCAAGTTT	0.378																																																1	Substitution - Missense(1)	ovary(1)	13											163	142	149					13																	33716466		2203	4300	6503	32614466	SO:0001583	missense	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.368T>A	13.37:g.33716466A>T	ENSP00000338785:p.Val123Glu		32614466	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320195	0.81469	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.39406	3.06;1.08;1.08	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.73962	2.25	0.80722	D	1	D;D;D;P	0.67145	0.991;0.996;0.996;0.785	P;D;P;P	0.68192	0.892;0.956;0.905;0.596	T	0.67749	-0.5590	10	0.62326	D	0.03	.	15.1508	0.72696	1.0:0.0:0.0:0.0	.	115;88;123;115	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	E	5;115;123;115	ENSP00000382300:V5E;ENSP00000255486:V115E;ENSP00000338785:V123E	ENSP00000255486:V115E	V	-	2	0	STARD13	32614466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.348000	0.79366	2.122000	0.65172	0.528000	0.53228	GTG		0.378	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		T	33716466	A	T	33716466	3	4	186	1	0	0	0	0	1	0	0	0	15258	159	6	5	3017	5	STARD13	13	33716466	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09		33716466	81453412	40	10612											
CEBPE	1053	genome.wustl.edu	37	14	23588243	23588243	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr14:23588243A>T	ENST00000206513.5	-	1	582	c.58T>A	c.(58-60)Ttc>Atc	p.F20I		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	20					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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 positive regulation of transcription (GO:0001077)	p.F20I(1)		large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CCCCCTGAGAACTCGAGTGGC	0.682																																					NSCLC(63;1230 1818 14565 22565)											1	Substitution - Missense(1)	ovary(1)	14											20	24	23					14																	23588243		2197	4295	6492	22658083	SO:0001583	missense	1053				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"basic leucine zipper proteins"	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.58T>A	14.37:g.23588243A>T	ENSP00000206513:p.Phe20Ile		22658083	Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003840	0.35320	.	.	ENSG00000092067	ENST00000206513	T	0.29655	1.56	4.24	4.24	0.50183	.	0.271190	0.37304	N	0.002148	T	0.16557	0.0398	L	0.29908	0.895	0.35997	D	0.837126	P	0.42827	0.791	B	0.31751	0.135	T	0.18967	-1.0320	10	0.22706	T	0.39	-26.9489	9.2637	0.37627	0.8183:0.1817:0.0:0.0	.	20	Q15744	CEBPE_HUMAN	I	20	ENSP00000206513:F20I	ENSP00000206513:F20I	F	-	1	0	CEBPE	22658083	0.733000	0.28132	1.000000	0.80357	0.741000	0.42261	0.165000	0.16564	1.784000	0.52394	0.402000	0.26972	TTC		0.682	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		T	23588243	A	T	23588243	3	4	186	1	0	0	0	0	1	0	0	0	3202	43	2	5	795	5	CEBPE	14	23588243	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09		23588243	83761297	41	10613											
RTN1	6252	genome.wustl.edu	37	14	60212554	60212554	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr14:60212554G>T	ENST00000267484.5	-	2	1222	c.887C>A	c.(886-888)aCc>aAc	p.T296N		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	296					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.T296N(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTTCTCTTGGGTAGTGGTTTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	14											100	94	96					14																	60212554		2203	4300	6503	59282307	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.887C>A	14.37:g.60212554G>T	ENSP00000267484:p.Thr296Asn		59282307	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285845	0.23478	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.23754	1.89	5.53	3.68	0.42216	.	0.756701	0.12837	N	0.435101	T	0.17746	0.0426	L	0.57536	1.79	0.09310	N	0.999991	P	0.40144	0.704	B	0.31442	0.13	T	0.15954	-1.0419	10	0.15066	T	0.55	.	4.0203	0.09662	0.0755:0.2649:0.425:0.2346	.	296	Q16799	RTN1_HUMAN	N	296;222	ENSP00000267484:T296N	ENSP00000267484:T296N	T	-	2	0	RTN1	59282307	0.596000	0.26866	0.011000	0.14972	0.954000	0.61252	0.752000	0.26362	0.670000	0.31165	0.557000	0.71058	ACC		0.498	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			T	60212554	G	T	60212554	3	4	186	1	0	0	0	0	1	0	0	0	13728	1261	44	3	1540	3	RTN1	14	60212554	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	36624311	60212554	47136986	42	10614											
VSX2	338917	genome.wustl.edu	37	14	74711917	74711917	+	Missense_Mutation	SNP	G	G	A	rs573993188		TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr14:74711917G>A	ENST00000261980.2	+	3	595	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	169					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E169K(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GGCATTCAACGAAGCCCACTA	0.562																																																1	Substitution - Missense(1)	ovary(1)	14											78	66	70					14																	74711917		2203	4300	6503	73781670	SO:0001583	missense	338917			AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.505G>A	14.37:g.74711917G>A	ENSP00000261980:p.Glu169Lys		73781670	A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717386	0.89205	.	.	ENSG00000119614	ENST00000261980	D	0.96041	-3.89	4.82	4.82	0.62117	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93350	0.7880	N	0.02721	-0.515	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93260	0.6642	10	0.25751	T	0.34	.	18.0779	0.89433	0.0:0.0:1.0:0.0	.	169	P58304	VSX2_HUMAN	K	169	ENSP00000261980:E169K	ENSP00000261980:E169K	E	+	1	0	VSX2	73781670	1.000000	0.71417	0.963000	0.40424	0.914000	0.54420	7.566000	0.82347	2.502000	0.84385	0.655000	0.94253	GAA		0.562	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		A	74711917	G	A	74711917	3	1	186	1	0	0	0	0	1	0	0	0	17232	1059	37	1	515	1	VSX2	14	74711917	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	14499363	74711917	32637623	43	10615											
TDRD9	122402	genome.wustl.edu	37	14	104482383	104482383	+	Silent	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr14:104482383G>T	ENST00000409874.4	+	22	2337	c.2289G>T	c.(2287-2289)gcG>gcT	p.A763A	RN7SL634P_ENST00000485467.2_RNA|TDRD9_ENST00000339063.5_Silent_p.A763A	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	763					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.A478A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGAGATGGCGGTGAGGGAGC	0.498																																																1	Substitution - coding silent(1)	ovary(1)	14											43	44	44					14																	104482383		2203	4299	6502	103552136	SO:0001819	synonymous_variant	122402			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2289G>T	14.37:g.104482383G>T			103552136	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Silent	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.220449	0.01530	.	.	ENSG00000156414	ENST00000557332	.	.	.	4.84	-9.68	0.00528	.	.	.	.	.	T	0.30759	0.0775	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41251	-0.9519	4	.	.	.	.	0.3254	0.00310	0.1911:0.227:0.2047:0.3772	.	.	.	.	C	490	.	.	G	+	1	0	TDRD9	103552136	0.000000	0.05858	0.011000	0.14972	0.056000	0.15407	-2.682000	0.00836	-2.849000	0.00332	-1.710000	0.00715	GGT		0.498	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		T	104482383	G	T	104482383	2	4	186	1	0	0	0	0	0	0	0	1	15736	1103	39	3		3	TDRD9	14	104482383	Silent	SNP	G	TCGA-23-1118-01A-01W-0488-09	29770466	104482383	2867157	44	10616											
THBS1	7057	genome.wustl.edu	37	15	39874834	39874835	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	GA	GA	GA	TT	GA	GA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr15:39874834_39874835GA>TT	ENST00000260356.5	+	3	673_674	c.508_509GA>TT	c.(508-510)GAc>TTc	p.D170F		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	170	Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GCTGTACATCGACTGTGAAAAG	0.574																																																0			15																																								37662127	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	Exception_encountered	15.37:g.39874834_39874835delinsTT	ENSP00000260356:p.Asp170Phe		37662126	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	DNP	ENST00000260356.5	37	CCDS32194.1																																																																																				0.574	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		TT	39874835	GA	TT	39874834	3	4	186	1	0	0	0	0	1	0	0	0	15853	1058	37	3	514	3	THBS1	15	39874834	Missense_Mutation	DNP	GA	TCGA-23-1118-01A-01W-0488-09		39874834	62656558	45	10617											
VPS18	57617	genome.wustl.edu	37	15	41193072	41193072	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr15:41193072G>A	ENST00000220509.5	+	4	2395	c.2056G>A	c.(2056-2058)Gct>Act	p.A686T	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	686					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.A686T(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCTGGAGCAGGCTGGGGCCAG	0.637																																																1	Substitution - Missense(1)	ovary(1)	15											71	68	69					15																	41193072		2203	4300	6503	38980364	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2056G>A	15.37:g.41193072G>A	ENSP00000220509:p.Ala686Thr		38980364	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445342	0.83993	.	.	ENSG00000104142	ENST00000220509	T	0.43688	0.94	5.93	5.93	0.95920	.	0.045909	0.85682	D	0.000000	T	0.42359	0.1199	L	0.46157	1.445	0.80722	D	1	B	0.32968	0.392	B	0.37989	0.262	T	0.16748	-1.0392	10	0.10377	T	0.69	-14.2638	20.3437	0.98782	0.0:0.0:1.0:0.0	.	686	Q9P253	VPS18_HUMAN	T	686	ENSP00000220509:A686T	ENSP00000220509:A686T	A	+	1	0	VPS18	38980364	1.000000	0.71417	0.995000	0.50966	0.888000	0.51559	6.652000	0.74377	2.815000	0.96918	0.561000	0.74099	GCT		0.637	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			A	41193072	G	A	41193072	3	1	186	1	0	0	0	0	1	0	0	0	17194	1203	42	2	2070	2	VPS18	15	41193072	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	1318238	41193072	61338320	46	10618											
GPR139	124274	genome.wustl.edu	37	16	20043233	20043233	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr16:20043233C>A	ENST00000570682.1	-	2	1186	c.886G>T	c.(886-888)Gca>Tca	p.A296S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	296					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.A296S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGGCGGCTGCCATGGTGCGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	16											116	113	114					16																	20043233		2203	4300	6503	19950734	SO:0001583	missense	124274			AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.886G>T	16.37:g.20043233C>A	ENSP00000458791:p.Ala296Ser		19950734	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324215	0.81580	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	N	0.19112	0.55	0.58432	D	0.999999	D	0.63880	0.993	P	0.52957	0.714	T	0.62025	-0.6941	9	0.62326	D	0.03	-19.5674	18.4466	0.90686	0.0:1.0:0.0:0.0	.	296	Q6DWJ6	GP139_HUMAN	S	296	.	ENSP00000370779:A296S	A	-	1	0	GPR139	19950734	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.484000	0.81180	2.581000	0.87130	0.655000	0.94253	GCA		0.507	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		A	20043233	C	A	20043233	3	1	186	1	0	0	0	0	1	0	0	0	6648	739	26	3	179	3	GPR139	16	20043233	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09		20043233	70311520	47	10619											
GPR139	124274	genome.wustl.edu	37	16	20043353	20043353	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr16:20043353G>A	ENST00000570682.1	-	2	1066	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	256					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.P256S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCTGGATGGGCGCCCCATAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	16											61	66	64					16																	20043353		2203	4300	6503	19950854	SO:0001583	missense	124274			AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.766C>T	16.37:g.20043353G>A	ENSP00000458791:p.Pro256Ser		19950854	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253491	0.39797	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.054949	0.85682	D	0.000000	T	0.44932	0.1317	N	0.20986	0.625	0.58432	D	0.999999	B	0.28933	0.228	B	0.33454	0.164	T	0.36890	-0.9729	9	0.05620	T	0.96	-52.7686	18.8716	0.92317	0.0:0.0:1.0:0.0	.	256	Q6DWJ6	GP139_HUMAN	S	256	.	ENSP00000370779:P256S	P	-	1	0	GPR139	19950854	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	9.471000	0.97696	2.694000	0.91930	0.655000	0.94253	CCC		0.532	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		A	20043353	G	A	20043353	3	1	186	1	0	0	0	0	1	0	0	0	6648	1203	42	2	299	2	GPR139	16	20043353	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	120	20043353	70311400	48	10620											
FBRS	64319	genome.wustl.edu	37	16	30680724	30680724	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr16:30680724G>T	ENST00000287468.5	+	12	1404	c.1141G>T	c.(1141-1143)Ggt>Tgt	p.G381C	FBRS_ENST00000395073.2_Missense_Mutation_p.G293C|FBRS_ENST00000356166.6_Missense_Mutation_p.G901C|FBRS_ENST00000568722.1_Missense_Mutation_p.G293C	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	381	Pro-rich.							p.G381C(1)		ovary(1)	1			Colorectal(24;0.103)			CTATGAGGCGGGTGAGGAGCT	0.677																																																1	Substitution - Missense(1)	ovary(1)	16											28	34	32					16																	30680724		2194	4293	6487	30588225	SO:0001583	missense	64319			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1141G>T	16.37:g.30680724G>T	ENSP00000287468:p.Gly381Cys		30588225	B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37		.	.	.	.	.	.	.	.	.	.	G	15.71	2.914066	0.52546	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.36340	1.26	5.09	5.09	0.68999	.	0.092218	0.44483	D	0.000446	T	0.42607	0.1210	N	0.22421	0.69	0.35164	D	0.770954	D	0.89917	1.0	D	0.76575	0.988	T	0.53933	-0.8368	10	0.66056	D	0.02	-2.9202	9.401	0.38433	0.0936:0.0:0.9064:0.0	.	381	Q9HAH7	FBRS_HUMAN	C	901;381;293	ENSP00000348489:G901C	ENSP00000287468:G381C	G	+	1	0	FBRS	30588225	1.000000	0.71417	0.968000	0.41197	0.962000	0.63368	4.547000	0.60712	2.656000	0.90262	0.561000	0.74099	GGT		0.677	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		T	30680724	G	T	30680724	3	4	186	1	0	0	0	0	1	0	0	0	5707	1232	43	3	1183	3	FBRS	16	30680724	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	10637371	30680724	59674029	49	10621											
ITGAX	3687	genome.wustl.edu	37	16	31374588	31374588	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr16:31374588A>C	ENST00000268296.4	+	14	1724	c.1603A>C	c.(1603-1605)Aag>Cag	p.K535Q	ITGAX_ENST00000562522.1_Missense_Mutation_p.K535Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	535					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.K535Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAATGGGGACAAGCTGACAGA	0.632																																																1	Substitution - Missense(1)	ovary(1)	16											130	137	135					16																	31374588		2197	4300	6497	31282089	SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1603A>C	16.37:g.31374588A>C	ENSP00000268296:p.Lys535Gln		31282089	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	A	6.341	0.430926	0.12045	.	.	ENSG00000140678	ENST00000268296	T	0.68025	-0.3	4.03	-5.64	0.02466	.	.	.	.	.	T	0.49115	0.1538	L	0.39147	1.195	0.09310	N	1	B	0.20368	0.044	B	0.16289	0.015	T	0.29427	-1.0012	9	0.27785	T	0.31	.	7.547	0.27772	0.2119:0.5197:0.2684:0.0	.	535	P20702	ITAX_HUMAN	Q	535	ENSP00000268296:K535Q	ENSP00000268296:K535Q	K	+	1	0	ITGAX	31282089	0.002000	0.14202	0.063000	0.19743	0.264000	0.26372	-0.188000	0.09642	-1.191000	0.02695	0.377000	0.23210	AAG		0.632	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		C	31374588	A	C	31374588	3	2	186	1	0	0	0	0	1	0	0	0	7889	131	5	5	1657	5	ITGAX	16	31374588	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09	693864	31374588	58980165	50	10622											
RBL2	5934	genome.wustl.edu	37	16	53524061	53524061	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr16:53524061G>T	ENST00000262133.6	+	22	3406	c.3269G>T	c.(3268-3270)aGt>aTt	p.S1090I	RBL2_ENST00000544545.1_Missense_Mutation_p.S469I|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1090					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.S1090I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAATTAATAGTATGATACGC	0.333																																																1	Substitution - Missense(1)	ovary(1)	16											56	60	59					16																	53524061		2198	4300	6498	52081562	SO:0001583	missense	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3269G>T	16.37:g.53524061G>T	ENSP00000262133:p.Ser1090Ile		52081562	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029398	0.75504	.	.	ENSG00000103479	ENST00000262133;ENST00000379935;ENST00000544545	T;T	0.55588	0.51;0.51	5.63	5.63	0.86233	.	0.042083	0.85682	D	0.000000	T	0.67202	0.2868	M	0.63843	1.955	0.30883	N	0.731171	D;D;D	0.56521	0.965;0.964;0.976	P;P;P	0.56088	0.742;0.791;0.675	T	0.68603	-0.5365	10	0.62326	D	0.03	-26.1697	20.0401	0.97581	0.0:0.0:1.0:0.0	.	469;800;1090	B7Z913;E9PG04;Q08999	.;.;RBL2_HUMAN	I	1090;800;469	ENSP00000262133:S1090I;ENSP00000444685:S469I	ENSP00000262133:S1090I	S	+	2	0	RBL2	52081562	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.890000	0.75633	2.805000	0.96524	0.655000	0.94253	AGT		0.333	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		T	53524061	G	T	53524061	3	4	186	1	0	0	0	0	1	0	0	0	13113	1029	36	3	3355	3	RBL2	16	53524061	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	22149473	53524061	36830692	51	10623											
HYDIN	54768	genome.wustl.edu	37	16	71103360	71103360	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr16:71103360A>T	ENST00000393567.2	-	14	1934	c.1784T>A	c.(1783-1785)aTc>aAc	p.I595N	HYDIN_ENST00000448089.2_Missense_Mutation_p.I595N|HYDIN_ENST00000393550.2_Missense_Mutation_p.I610N|HYDIN_ENST00000541601.1_Missense_Mutation_p.I612N|HYDIN_ENST00000538248.1_Missense_Mutation_p.I622N|HYDIN_ENST00000288168.10_Missense_Mutation_p.I612N|HYDIN_ENST00000321489.5_Missense_Mutation_p.I595N|HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000448691.1_Missense_Mutation_p.I595N	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	595					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I595N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTCATGGGGATCAAAGAGGT	0.443																																																2	Substitution - Missense(2)	ovary(2)	16											28	29	29					16																	71103360		2196	4297	6493	69660861	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1784T>A	16.37:g.71103360A>T	ENSP00000377197:p.Ile595Asn		69660861	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464288	0.63513	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.20881	5.17;3.45;3.48;3.48;3.47;3.48;3.02;2.04	4.98	4.98	0.66077	.	0.286356	0.17311	U	0.178898	T	0.36413	0.0966	L	0.41492	1.28	0.24195	N	0.995539	P;P;D;P;P	0.65815	0.938;0.938;0.995;0.876;0.471	P;P;D;P;B	0.66847	0.905;0.905;0.947;0.698;0.323	T	0.13098	-1.0522	10	0.66056	D	0.02	.	13.6945	0.62569	1.0:0.0:0.0:0.0	.	622;612;612;595;595	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	N	595;595;595;595;595;622;612;612;610	ENSP00000377197:I595N;ENSP00000398544:I595N;ENSP00000394826:I595N;ENSP00000314736:I595N;ENSP00000444970:I622N;ENSP00000437341:I612N;ENSP00000288168:I612N;ENSP00000377181:I610N	ENSP00000288168:I612N	I	-	2	0	HYDIN	69660861	1.000000	0.71417	0.997000	0.53966	0.620000	0.37586	6.983000	0.76180	1.880000	0.54463	0.438000	0.28831	ATC		0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71103360	A	T	71103360	3	4	186	1	0	0	0	0	1	0	0	0	7467	333	12	5	13882	5	HYDIN	16	71103360	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09	17579299	71103360	19251393	52	10624											
TP53	7157	genome.wustl.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874|rs137852790|rs137852791		TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000420246.2_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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"	156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(1)	17	GRCh37	CM012662|CM941326	TP53	M	rs28934874						55	55	55					17																	7578479		2203	4300	6503	7519204	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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser		7519204	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	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578479	G	A	7578479	3	1	186	1	0	0	0	0	1	0	0	0	16381	1261	44	2	847	2	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09		7578479	73616731	53	10625											
TNRC6C	57690	genome.wustl.edu	37	17	76046839	76046839	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr17:76046839G>T	ENST00000588061.1	+	5	2423	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	TNRC6C_ENST00000544502.1_Missense_Mutation_p.D566Y|TNRC6C_ENST00000335749.4_Missense_Mutation_p.D566Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.D566Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.D566Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.D566Y			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	566	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D566Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAATCAGGAGGACAAGTCACC	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											53	57	56					17																	76046839		2026	4186	6212	73558434	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1696G>T	17.37:g.76046839G>T	ENSP00000468647:p.Asp566Tyr		73558434	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269088	0.59540	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.75	5.75	0.90469	.	0.147934	0.64402	D	0.000007	T	0.43055	0.1230	M	0.64997	1.995	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.979	T	0.13072	-1.0523	10	0.62326	D	0.03	-27.8981	19.9417	0.97165	0.0:0.0:1.0:0.0	.	566;566;566	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	Y	566	ENSP00000336783:D566Y;ENSP00000301624:D566Y;ENSP00000440310:D566Y;ENSP00000442421:D566Y	ENSP00000301624:D566Y	D	+	1	0	TNRC6C	73558434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.784000	0.85713	2.720000	0.93068	0.655000	0.94253	GAC		0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		T	76046839	G	T	76046839	3	4	186	1	0	0	0	0	1	0	0	0	16342	1174	41	3	1698	3	TNRC6C	17	76046839	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09	68468360	76046839	5148371	54	10626											
GALNT1	2589	genome.wustl.edu	37	18	33272183	33272183	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr18:33272183G>A	ENST00000269195.5	+	8	1301	c.1198G>A	c.(1198-1200)Gtt>Att	p.V400I	GALNT1_ENST00000537549.1_Missense_Mutation_p.V340I	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	400					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V400I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATCGTCAAGAGTTGGTCTAAG	0.333																																																1	Substitution - Missense(1)	ovary(1)	18											149	153	152					18																	33272183		2203	4298	6501	31526181	SO:0001583	missense	2589				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1198G>A	18.37:g.33272183G>A	ENSP00000269195:p.Val400Ile		31526181	Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	7.446	0.641671	0.14451	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.29142	1.58;1.58	5.6	-0.271	0.12922	.	0.569932	0.19834	N	0.105024	T	0.14356	0.0347	N	0.10618	0.005	0.22253	N	0.999256	B	0.06786	0.001	B	0.09377	0.004	T	0.23904	-1.0175	10	0.19147	T	0.46	.	13.4837	0.61353	0.1003:0.3514:0.5483:0.0	.	400	Q10472	GALT1_HUMAN	I	400;400;340	ENSP00000269195:V400I;ENSP00000440910:V340I	ENSP00000269195:V400I	V	+	1	0	GALNT1	31526181	0.872000	0.30054	0.981000	0.43875	0.985000	0.73830	0.691000	0.25467	-0.008000	0.14320	-0.165000	0.13383	GTT		0.333	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		A	33272183	G	A	33272183	3	1	186	1	0	0	0	0	1	0	0	0	6207	1029	36	2	1228	2	GALNT1	18	33272183	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09		33272183	44805065	55	10627											
SLC14A2	8170	genome.wustl.edu	37	18	43262376	43262376	+	Silent	SNP	G	G	A	rs143610580		TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr18:43262376G>A	ENST00000255226.6	+	20	3471	c.2655G>A	c.(2653-2655)ccG>ccA	p.P885P	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.P885P|SLC14A2_ENST00000589658.1_Silent_p.P362P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	885					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.P885P(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAGCTCCCGCTCAGCAAAG	0.542																																																1	Substitution - coding silent(1)	ovary(1)	18						G	,	2,4404	4.2+/-10.8	0,2,2201	250	240	244		2655,2655	-10.3	0.3	18	dbSNP_134	244	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC14A2	NM_001242692.1,NM_007163.3	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	885/921,885/921	43262376	3,13003	2203	4300	6503	41516374	SO:0001819	synonymous_variant	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2655G>A	18.37:g.43262376G>A			41516374	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																				0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			A	43262376	G	A	43262376	2	1	186	1	0	0	0	0	0	0	0	1	14400	1074	38	1		1	SLC14A2	18	43262376	Silent	SNP	G	TCGA-23-1118-01A-01W-0488-09	9990193	43262376	34814872	56	10628											
OR10H5	284433	genome.wustl.edu	37	19	15904980	15904980	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr19:15904980G>A	ENST00000308940.8	+	1	220	c.122G>A	c.(121-123)gGc>gAc	p.G41D		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACGCTGCTGGGCAACCTGCTC	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											222	177	192					19																	15904980		2203	4300	6503	15765980	SO:0001583	missense	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.122G>A	19.37:g.15904980G>A	ENSP00000310704:p.Gly41Asp		15765980	Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	16.55	3.156004	0.57259	.	.	ENSG00000172519	ENST00000308940	T	0.04360	3.64	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000103	T	0.30008	0.0751	H	0.95079	3.62	0.31580	N	0.655224	D	0.89917	1.0	D	0.97110	1.0	T	0.54330	-0.8310	10	0.87932	D	0	.	12.818	0.57677	0.0:0.0:1.0:0.0	.	41	Q8NGA6	O10H5_HUMAN	D	41	ENSP00000310704:G41D	ENSP00000310704:G41D	G	+	2	0	OR10H5	15765980	0.462000	0.25791	0.998000	0.56505	0.993000	0.82548	1.280000	0.33202	1.647000	0.50633	0.585000	0.79938	GGC		0.577	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			A	15904980	G	A	15904980	3	1	186	1	0	0	0	0	1	0	0	0	10909	1203	42	2	124	2	OR10H5	19	15904980	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09		15904980	43224003	57	10629											
DDA1	79016	genome.wustl.edu	37	19	17425170	17425170	+	Silent	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr19:17425170G>T	ENST00000359866.4	+	3	232	c.108G>T	c.(106-108)ctG>ctT	p.L36L		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	36								p.L36L(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CAGTCTACCTGCCTACCCGCG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	19											107	82	90					19																	17425170		2203	4300	6503	17286170	SO:0001819	synonymous_variant	79016			BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 58"	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.108G>T	19.37:g.17425170G>T			17286170		Silent	SNP	ENST00000359866.4	37	CCDS12357.1																																																																																				0.627	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		T	17425170	G	T	17425170	2	4	186	1	0	0	0	0	0	0	0	1	4320	1306	46	3		3	DDA1	19	17425170	Silent	SNP	G	TCGA-23-1118-01A-01W-0488-09	1520190	17425170	41703813	58	10630											
ZNF222	7673	genome.wustl.edu	37	19	44536079	44536079	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr19:44536079A>C	ENST00000187879.8	+	4	414	c.252A>C	c.(250-252)caA>caC	p.Q84H	ZNF222_ENST00000391960.3_Missense_Mutation_p.Q124H|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q84H(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CCAGGTCTCAAGATACCACCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	19											105	103	104					19																	44536079		2203	4300	6503	49227919	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.252A>C	19.37:g.44536079A>C	ENSP00000187879:p.Gln84His		49227919	G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847414	0.32606	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.06294	3.32;3.37	2.14	-0.0708	0.13746	.	.	.	.	.	T	0.13286	0.0322	L	0.51914	1.62	0.09310	N	1	D;D	0.60160	0.987;0.978	D;P	0.65684	0.937;0.867	T	0.19289	-1.0310	9	0.35671	T	0.21	.	5.595	0.17321	0.5054:0.0:0.4946:0.0	.	124;84	G5E9B9;Q9UK12	.;ZN222_HUMAN	H	124;84;30	ENSP00000375822:Q124H;ENSP00000187879:Q84H	ENSP00000187879:Q84H	Q	+	3	2	ZNF222	49227919	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	-0.799000	0.04560	-0.097000	0.12307	0.172000	0.16884	CAA		0.403	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			C	44536079	A	C	44536079	3	2	186	1	0	0	0	0	1	0	0	0	17776	69	3	5	405	5	ZNF222	19	44536079	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09	27110909	44536079	14592904	59	10631											
ZNF649	65251	genome.wustl.edu	37	19	52400191	52400191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr19:52400191C>T	ENST00000354957.3	-	3	340	c.56G>A	c.(55-57)tGg>tAg	p.W19*	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Nonsense_Mutation_p.W19*	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W19*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CCACTCCTCCCAGGTGAAGTC	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	19											170	163	165					19																	52400191		2203	4300	6503	57092003	SO:0001587	stop_gained	65251			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.56G>A	19.37:g.52400191C>T	ENSP00000347043:p.Trp19*		57092003	A8MYJ5|B2RDC4|Q9H9N2	Nonsense_Mutation	SNP	ENST00000354957.3	37	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258337	0.95368	.	.	ENSG00000198093	ENST00000354957	.	.	.	2.51	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	6.4411	0.21851	0.0:0.6902:0.3098:0.0	.	.	.	.	X	19	.	ENSP00000347043:W19X	W	-	2	0	ZNF649	57092003	0.000000	0.05858	0.994000	0.49952	0.745000	0.42441	-1.176000	0.03099	1.402000	0.46780	0.543000	0.68304	TGG		0.488	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		T	52400191	C	T	52400191	4	4	186	1	0	0	0	0	0	1	0	0	18064	595	21	2	1473	2	ZNF649	19	52400191	Nonsense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09	7864112	52400191	6728792	60	10632											
ZNF813	126017	genome.wustl.edu	37	19	53995002	53995002	+	Missense_Mutation	SNP	C	C	T	rs199775956		TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr19:53995002C>T	ENST00000396403.4	+	4	1644	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGGTTTTAATCGGAAAACACA	0.403																																																0			19						C	TRP/ARG	0,4396		0,0,2198	50	54	53		1516	-2.6	0	19		53	5,8593	3.7+/-12.6	0,5,4294	no	missense	ZNF813	NM_001004301.3	101	0,5,6492	TT,TC,CC		0.0582,0.0,0.0385	probably-damaging	506/618	53995002	5,12989	2198	4299	6497	58686814	SO:0001583	missense	126017			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1516C>T	19.37:g.53995002C>T	ENSP00000379684:p.Arg506Trp		58686814		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	c	6.236	0.411728	0.11812	0.0	5.82E-4	ENSG00000198346	ENST00000396403	T	0.16073	2.37	1.32	-2.63	0.06133	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26412	0.0645	M	0.71036	2.16	0.09310	N	1	D	0.89917	1.0	D	0.63597	0.916	T	0.11227	-1.0596	9	0.28530	T	0.3	.	0.2847	0.00249	0.364:0.171:0.1427:0.3222	.	506	Q6ZN06	ZN813_HUMAN	W	506	ENSP00000379684:R506W	ENSP00000379684:R506W	R	+	1	2	ZNF813	58686814	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.809000	0.00361	-1.896000	0.01102	-1.139000	0.01908	CGG		0.403	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		T	53995002	C	T	53995002	3	4	186	1	0	0	0	0	1	0	0	0	18175	875	31	1	1526	1	ZNF813	19	53995002	Missense_Mutation	SNP	C	TCGA-23-1118-01A-01W-0488-09	1594811	53995002	5133981	61	10633											
LILRA2	11027	genome.wustl.edu	37	19	55086380	55086380	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr19:55086380A>G	ENST00000251377.3	+	5	668	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.I179V|LILRA2_ENST00000391738.3_Missense_Mutation_p.I179V|LILRA2_ENST00000391737.1_Missense_Mutation_p.I167V|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	179	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.I179V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTCCTGGGCCATCTTCTCCGT	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											160	150	154					19																	55086380		2203	4300	6503	59778192	SO:0001583	missense	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.535A>G	19.37:g.55086380A>G	ENSP00000251377:p.Ile179Val		59778192	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	7.518	0.656085	0.14580	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.02787	4.16;4.16;4.16;4.16;4.16	2.93	-5.86	0.02304	Immunoglobulin-like fold (1);	0.746744	0.11359	N	0.572090	T	0.00845	0.0028	N	0.01817	-0.705	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.44742	-0.9308	9	.	.	.	.	2.0011	0.03467	0.4159:0.1938:0.2836:0.1067	.	179;167;179;179	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	V	179;179;179;179;167	ENSP00000388131:I179V;ENSP00000251377:I179V;ENSP00000375618:I179V;ENSP00000251376:I179V;ENSP00000375617:I167V	.	I	+	1	0	LILRA2	59778192	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.973000	0.03798	-1.127000	0.02925	-2.500000	0.00191	ATC		0.562	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			G	55086380	A	G	55086380	3	3	186	1	0	0	0	0	1	0	0	0	8785	217	8	4	549	4	LILRA2	19	55086380	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09	1091378	55086380	4042603	62	10634											
NLRP8	126205	genome.wustl.edu	37	19	56477747	56477747	+	Splice_Site	SNP	G	G	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr19:56477747G>T	ENST00000291971.3	+	5	2452		c.e5+1		NLRP8_ENST00000590542.1_Splice_Site	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8						neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.?(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGTGTCTCAGGTGAGATTTGA	0.532																																																1	Unknown(1)	ovary(1)	19											60	62	61					19																	56477747		2203	4300	6503	61169559	SO:0001630	splice_region_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2381+1G>T	19.37:g.56477747G>T			61169559	Q7RTR4	Splice_Site	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.782	0.513167	0.12944	.	.	ENSG00000179709	ENST00000291971	.	.	.	1.69	1.69	0.24217	.	.	.	.	.	.	.	.	.	.	.	0.29051	N	0.88452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8465	0.23990	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP8	61169559	0.910000	0.30920	0.060000	0.19600	0.011000	0.07611	2.303000	0.43646	1.232000	0.43678	0.455000	0.32223	.		0.532	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	Intron	T	56477747	G	T	56477747	5	4	186	1	0	0	0	0	0	0	1	0	10483	1275	44	3	2400	3	NLRP8	19	56477747	Splice_Site	SNP	G	TCGA-23-1118-01A-01W-0488-09	1391367	56477747	2651236	63	10635											
ZSWIM3	140831	genome.wustl.edu	37	20	44505469	44505469	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr20:44505469T>A	ENST00000255152.2	+	2	481	c.272T>A	c.(271-273)cTa>cAa	p.L91Q	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.L85Q	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	91							zinc ion binding (GO:0008270)	p.L91Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CTAGATAGACTATTTATCAGT	0.473																																																1	Substitution - Missense(1)	ovary(1)	20											131	116	121					20																	44505469		2203	4300	6503	43938876	SO:0001583	missense	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.272T>A	20.37:g.44505469T>A	ENSP00000255152:p.Leu91Gln		43938876	Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180496	0.57800	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.58060	0.36;0.86	5.36	5.36	0.76844	.	0.000000	0.52532	D	0.000061	T	0.63082	0.2481	L	0.34521	1.04	0.40414	D	0.97977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.67397	-0.5681	10	0.72032	D	0.01	-13.5129	15.1751	0.72903	0.0:0.0:0.0:1.0	.	85;91	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	Q	91;85	ENSP00000255152:L91Q;ENSP00000406313:L85Q	ENSP00000255152:L91Q	L	+	2	0	ZSWIM3	43938876	0.958000	0.32768	0.770000	0.31555	0.749000	0.42624	4.677000	0.61634	2.257000	0.74773	0.459000	0.35465	CTA		0.473	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		A	44505469	T	A	44505469	3	1	186	1	0	0	0	0	1	0	0	0	18242	1522	53	5	278	5	ZSWIM3	20	44505469	Missense_Mutation	SNP	T	TCGA-23-1118-01A-01W-0488-09		44505469	18520051	64	10636											
NCOA3	8202	genome.wustl.edu	37	20	46262903	46262903	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr20:46262903A>T	ENST00000371998.3	+	10	1267	c.1076A>T	c.(1075-1077)gAt>gTt	p.D359V	NCOA3_ENST00000371997.3_Missense_Mutation_p.D369V|NCOA3_ENST00000372004.3_Missense_Mutation_p.D359V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D369V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	359					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.D359V(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTAACAAATGATCGACATGGC	0.398																																																1	Substitution - Missense(1)	ovary(1)	20											173	148	156					20																	46262903		2203	4300	6503	45696310	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1076A>T	20.37:g.46262903A>T	ENSP00000361066:p.Asp359Val		45696310	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409980	0.83340	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.75	5.75	0.90469	.	0.052398	0.64402	D	0.000001	T	0.34164	0.0888	L	0.39397	1.21	0.80722	D	1	B;D;B;B;B;B	0.89917	0.125;1.0;0.125;0.125;0.198;0.125	B;D;B;B;B;B	0.74023	0.082;0.982;0.082;0.082;0.171;0.082	T	0.04400	-1.0954	10	0.87932	D	0	-28.5847	16.0663	0.80878	1.0:0.0:0.0:0.0	.	359;369;363;359;359;359	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	V	359;369;359;359;369;125	ENSP00000342123:D369V;ENSP00000361073:D359V;ENSP00000361066:D359V;ENSP00000361065:D369V	ENSP00000345671:D359V	D	+	2	0	NCOA3	45696310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAT		0.398	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		T	46262903	A	T	46262903	3	4	186	1	0	0	0	0	1	0	0	0	10230	333	12	5	1136	5	NCOA3	20	46262903	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09	1757434	46262903	16762617	65	10637											
RIPK4	54101	genome.wustl.edu	37	21	43161430	43161430	+	Silent	SNP	C	C	T			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr21:43161430C>T	ENST00000352483.2	-	9	2131	c.2067G>A	c.(2065-2067)ctG>ctA	p.L689L	RIPK4_ENST00000542057.1_Silent_p.L578L|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.L641L|RIPK4_ENST00000544709.1_Silent_p.L578L			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	689					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L641L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGGCCACGTGCAGGGGTGTCT	0.692																																																1	Substitution - coding silent(1)	ovary(1)	21											43	46	45					21																	43161430		2202	4298	6500	42034499	SO:0001819	synonymous_variant	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2067G>A	21.37:g.43161430C>T			42034499	Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		.	.	.	.	.	.	.	.	.	.	C	9.738	1.164219	0.21538	.	.	ENSG00000183421	ENST00000330470	.	.	.	4.75	2.82	0.32997	.	.	.	.	.	T	0.35038	0.0918	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04976	-1.0914	5	0.08179	T	0.78	-19.5169	7.8049	0.29195	0.2393:0.5405:0.2202:0.0	.	.	.	.	T	378	.	ENSP00000330975:A378T	A	-	1	0	RIPK4	42034499	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	0.727000	0.25999	0.954000	0.37851	0.655000	0.94253	GCA		0.692	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		T	43161430	C	T	43161430	2	4	186	1	0	0	0	0	0	0	0	1	13386	697	25	2		2	RIPK4	21	43161430	Silent	SNP	C	TCGA-23-1118-01A-01W-0488-09		43161430	4968465	66	10638											
MYO18B	84700	genome.wustl.edu	37	22	26388430	26388430	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chr22:26388430A>C	ENST00000407587.2	+	40	6430	c.6261A>C	c.(6259-6261)gaA>gaC	p.E2087D	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2086D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2086D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2086						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E2087D(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTTGGAAGAAGTGGCATCCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	22											55	58	57					22																	26388430		2016	4168	6184	24718430	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6261A>C	22.37:g.26388430A>C	ENSP00000386096:p.Glu2087Asp		24718430	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.00|13.00	2.106538|2.106538	0.37145|0.37145	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.87650|.	-2.28;-2.28;-2.28|.	5.26|5.26	-1.31|-1.31	0.09230|0.09230	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.49440|0.49440	0.1557|0.1557	L|L	0.58428|0.58428	1.81|1.81	0.33060|0.33060	D|D	0.533894|0.533894	B;B;B;B;B|.	0.33448|.	0.011;0.022;0.022;0.412;0.037|.	B;B;B;B;B|.	0.39068|.	0.011;0.011;0.011;0.289;0.024|.	T|T	0.56745|0.56745	-0.7928|-0.7928	10|5	0.23302|.	T|.	0.38|.	.|.	5.4145|5.4145	0.16365|0.16365	0.4371:0.0:0.4219:0.141|0.4371:0.0:0.4219:0.141	.|.	1599;2088;2086;2087;2086|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|T	2086;2086;2087|51	ENSP00000441229:E2086D;ENSP00000334563:E2086D;ENSP00000386096:E2087D|.	ENSP00000334563:E2086D|.	E|K	+|+	3|2	2|0	MYO18B|MYO18B	24718430|24718430	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.824000|0.824000	0.46624|0.46624	0.634000|0.634000	0.24614|0.24614	-0.015000|-0.015000	0.14150|0.14150	-0.242000|-0.242000	0.12053|0.12053	GAA|AAG		0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		C	26388430	A	C	26388430	3	2	186	1	0	0	0	0	1	0	0	0	10066	69	3	5	6412	5	MYO18B	22	26388430	Missense_Mutation	SNP	A	TCGA-23-1118-01A-01W-0488-09		26388430	24916136	67	10639											
SLC25A5	292	genome.wustl.edu	37	X	118603984	118603984	+	Missense_Mutation	SNP	G	G	A	rs199678822		TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chrX:118603984G>A	ENST00000317881.8	+	2	588	c.472G>A	c.(472-474)Ggt>Agt	p.G158S	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	158					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)	p.G158S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CCGAGGCCTCGGTGACTGCCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											92	97	96					X																	118603984		2203	4300	6503	118488012	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.472G>A	X.37:g.118603984G>A	ENSP00000360671:p.Gly158Ser		118488012	B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336216	0.41398	.	.	ENSG00000005022	ENST00000317881	T	0.78481	-1.18	4.35	4.35	0.52113	Mitochondrial carrier domain (2);	0.049000	0.85682	N	0.000000	T	0.71134	0.3304	L	0.43757	1.38	0.58432	D	0.999999	B	0.15719	0.014	B	0.24394	0.053	T	0.66176	-0.5989	10	0.21014	T	0.42	.	15.7288	0.77784	0.0:0.0:1.0:0.0	.	158	P05141	ADT2_HUMAN	S	158	ENSP00000360671:G158S	ENSP00000360671:G158S	G	+	1	0	SLC25A5	118488012	1.000000	0.71417	0.992000	0.48379	0.931000	0.56810	9.347000	0.97059	2.100000	0.63781	0.529000	0.55759	GGT		0.512	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		A	118603984	G	A	118603984	3	1	186	1	0	0	0	0	1	0	0	0	14515	1116	39	1	478	1	SLC25A5	23	118603984	Missense_Mutation	SNP	G	TCGA-23-1118-01A-01W-0488-09		118603984	36666576	68	10640											
HCFC1	3054	genome.wustl.edu	37	X	153222894	153222894	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1118-01A-01W-0488-09	TCGA-23-1118-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	00c41845-6b48-40fa-82e9-1b436e7d91c3	4c9bc38a-51ca-49dc-9120-68e7c490c62a	g.chrX:153222894T>C	ENST00000310441.7	-	13	3190	c.2224A>G	c.(2224-2226)Agt>Ggt	p.S742G	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.S742G|HCFC1_ENST00000354233.3_Missense_Mutation_p.S673G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	742					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S645G(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGCCCCACTGGCCTGCGTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											93	100	98					X																	153222894		2151	4220	6371	152876088	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2224A>G	X.37:g.153222894T>C	ENSP00000309555:p.Ser742Gly		152876088	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	8.536	0.872032	0.17322	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.02812	4.16;4.15;4.16	5.64	3.25	0.37280	.	0.092556	0.85682	N	0.000000	T	0.01092	0.0036	N	0.01352	-0.895	0.31310	N	0.687256	B	0.06786	0.001	B	0.01281	0.0	T	0.38929	-0.9638	10	0.15499	T	0.54	.	7.2049	0.25901	0.0:0.3499:0.0:0.6501	.	742	P51610	HCFC1_HUMAN	G	742;742;673	ENSP00000309555:S742G;ENSP00000359001:S742G;ENSP00000346174:S673G	ENSP00000309555:S742G	S	-	1	0	HCFC1	152876088	1.000000	0.71417	0.943000	0.38184	0.747000	0.42532	3.672000	0.54583	0.271000	0.22005	0.486000	0.48141	AGT		0.622	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		C	153222894	T	C	153222894	3	2	186	1	0	0	0	0	1	0	0	0	6991	1580	55	4	3939	4	HCFC1	23	153222894	Missense_Mutation	SNP	T	TCGA-23-1118-01A-01W-0488-09	34618910	153222894	2047666	69	10641											
PDE4B	5142	hgsc.bcm.edu	37	1	66834500	66834500	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr1:66834500C>G	ENST00000329654.4	+	16	1880	c.1693C>G	c.(1693-1695)Ctg>Gtg	p.L565V	PDE4B_ENST00000371049.3_Missense_Mutation_p.L565V|PDE4B_ENST00000371045.5_Missense_Mutation_p.L393V|PDE4B_ENST00000480109.2_Missense_Mutation_p.L332V|PDE4B_ENST00000423207.2_Missense_Mutation_p.L550V	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	565					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.L550V(1)|p.L565V(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)	CTGTGCAGACCTGAGCAACCC	0.473																																																2	Substitution - Missense(2)	ovary(2)	1											108	99	102					1																	66834500		2203	4300	6503	66607088	SO:0001583	missense	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.1693C>G	1.37:g.66834500C>G	ENSP00000332116:p.Leu565Val		66607088	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467799	0.63625	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	4.44	4.44	0.53790	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000001	D	0.84556	0.5498	L	0.35249	1.045	0.80722	D	1	D;D;D;D;D	0.89917	0.986;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.935;0.998;0.999;0.999;0.999	D	0.85763	0.1350	10	0.54805	T	0.06	.	12.1391	0.53989	0.0:0.9133:0.0:0.0867	.	332;550;435;555;565	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	V	565;565;565;550;393;332	ENSP00000332116:L565V;ENSP00000342637:L565V;ENSP00000360088:L565V;ENSP00000392947:L550V;ENSP00000360084:L393V;ENSP00000432592:L332V	ENSP00000332116:L565V	L	+	1	2	PDE4B	66607088	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.426000	0.44731	2.451000	0.82905	0.563000	0.77884	CTG		0.473	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		G	66834500	C	G	66834500	3	3	187	1	0	0	0	0	1	0	0	0	11640	680	24	3	2109	3	PDE4B	1	66834500	Missense_Mutation	SNP	C	TCGA-23-1119-01A-02W-0484-10		66834500	182416121	1	10642											
FBXO11	80204	hgsc.bcm.edu	37	2	48035532	48035532	+	Missense_Mutation	SNP	T	T	C	rs373629400		TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr2:48035532T>C	ENST00000403359.3	-	22	2662	c.2590A>G	c.(2590-2592)Ata>Gta	p.I864V	FBXO11_ENST00000316377.4_Missense_Mutation_p.I780V|FBXO11_ENST00000405808.1_Missense_Mutation_p.I18V|FBXO11_ENST00000402508.1_Missense_Mutation_p.I780V|FBXO11_ENST00000434523.2_Missense_Mutation_p.I288V|MSH6_ENST00000234420.5_3'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	864					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I780V(2)|p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACACATATGGCATTTCGA	0.338			"Mis, F, D"		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	4	Substitution - Missense(2)|Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)|lung(1)	2						T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	146	129	135		2590,2338	5.7	1	2		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO11	NM_001190274.1,NM_025133.4	29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	864/928,780/844	48035532	1,13005	2203	4300	6503	47889036	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2590A>G	2.37:g.48035532T>C	ENSP00000384823:p.Ile864Val		47889036	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	T	5.321	0.244606	0.10077	0.0	1.16E-4	ENSG00000138081	ENST00000405808;ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	N	0.16016	0.355	0.80722	D	1	B	0.20671	0.047	B	0.30179	0.112	T	0.73020	-0.4114	10	0.87932	D	0	-13.1688	16.2962	0.82776	0.0:0.0:0.0:1.0	.	288	B3KUR1	.	V	18;780;864;780;288	ENSP00000385127:I18V;ENSP00000385398:I780V;ENSP00000384823:I864V;ENSP00000323822:I780V;ENSP00000397359:I288V	ENSP00000323822:I780V	I	-	1	0	FBXO11	47889036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.970000	0.88000	2.304000	0.77564	0.528000	0.53228	ATA		0.338	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		C	48035532	T	C	48035532	3	2	187	1	0	0	0	0	1	0	0	0	5727	1464	51	4	201	4	FBXO11	2	48035532	Missense_Mutation	SNP	T	TCGA-23-1119-01A-02W-0484-10		48035532	195163841	2	10643											
TTN	7273	hgsc.bcm.edu	37	2	179452694	179452694	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr2:179452694G>A	ENST00000591111.1	-	255	58741	c.58517C>T	c.(58516-58518)gCc>gTc	p.A19506V	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A21147V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A18579V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12274V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A12207V|TTN_ENST00000460472.2_Missense_Mutation_p.A12082V			Q8WZ42	TITIN_HUMAN	titin	19506	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A18577V(1)|p.A12082V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTTTGGGCACACACCCT	0.458																																																2	Substitution - Missense(2)	ovary(2)	2											59	56	57					2																	179452694		1917	4116	6033	179160940	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58517C>T	2.37:g.179452694G>A	ENSP00000465570:p.Ala19506Val		179160940	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.93	2.979078	0.53827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.78	5.78	0.91487	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88890	0.6560	H	0.96833	3.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.91913	0.5541	9	0.87932	D	0	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	12082;12207;12274;19506	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	18579;12082;12274;12207;12080	ENSP00000343764:A18579V;ENSP00000434586:A12082V;ENSP00000340554:A12274V;ENSP00000352154:A12207V	ENSP00000340554:A12274V	A	-	2	0	TTN	179160940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.729000	0.93468	0.650000	0.86243	GCC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179452694	G	A	179452694	3	1	187	1	0	0	0	0	1	0	0	0	16735	1203	42	2	44771	2	TTN	2	179452694	Missense_Mutation	SNP	G	TCGA-23-1119-01A-02W-0484-10	131417162	179452694	63746679	3	10644											
NEK1	4750	hgsc.bcm.edu	37	4	170508744	170508744	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr4:170508744C>A	ENST00000439128.2	-	8	1212	c.572G>T	c.(571-573)tGt>tTt	p.C191F	NEK1_ENST00000511633.1_Missense_Mutation_p.C191F|NEK1_ENST00000507142.1_Missense_Mutation_p.C191F|NEK1_ENST00000512193.1_Missense_Mutation_p.C191F|NEK1_ENST00000510533.1_Missense_Mutation_p.C191F	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.C191F(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATAAAGGACACACCCCAGAGC	0.303																																																1	Substitution - Missense(1)	ovary(1)	4											30	29	29					4																	170508744		1801	4057	5858	170745319	SO:0001583	missense	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.572G>T	4.37:g.170508744C>A	ENSP00000408020:p.Cys191Phe		170745319	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273978	0.80580	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.05	5.05	0.67936	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	0.64402	D	0.000003	T	0.67767	0.2928	H	0.97732	4.065	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999;1.0	T	0.81028	-0.1118	10	0.87932	D	0	.	18.3746	0.90431	0.0:1.0:0.0:0.0	.	191;191;191;191;191;191	Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;.;NEK1_HUMAN	F	191	ENSP00000408020:C191F;ENSP00000423332:C191F;ENSP00000427653:C191F;ENSP00000424757:C191F;ENSP00000424938:C191F	ENSP00000408020:C191F	C	-	2	0	NEK1	170745319	1.000000	0.71417	0.995000	0.50966	0.802000	0.45316	5.504000	0.66968	2.512000	0.84698	0.460000	0.39030	TGT		0.303	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			A	170508744	C	A	170508744	3	1	187	1	0	0	0	0	1	0	0	0	10321	478	17	3	3312	3	NEK1	4	170508744	Missense_Mutation	SNP	C	TCGA-23-1119-01A-02W-0484-10		170508744	20645532	4	10645											
SLC22A16	85413	hgsc.bcm.edu	37	6	110777751	110777751	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr6:110777751A>T	ENST00000368919.3	-	2	589	c.523T>A	c.(523-525)Ttt>Att	p.F175I	SLC22A16_ENST00000439654.1_Missense_Mutation_p.F175I|SLC22A16_ENST00000330550.4_Missense_Mutation_p.F141I|SLC22A16_ENST00000456137.2_Missense_Mutation_p.F175I|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	175					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.F175I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CTGTCAGAAAAGTAGCCAAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											122	131	128					6																	110777751		2203	4300	6503	110884444	SO:0001583	missense	85413				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.523T>A	6.37:g.110777751A>T	ENSP00000357915:p.Phe175Ile		110884444	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.638474	0.29157	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.69	0.997	0.19851	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.610246	0.16050	N	0.232003	T	0.20292	0.0488	N	0.00670	-1.27	0.24660	N	0.993479	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.37009	-0.9724	10	0.36615	T	0.2	.	5.3032	0.15790	0.179:0.0:0.2952:0.5259	.	175;141	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	I	175;92;141;175;132;175;132	ENSP00000357915:F175I;ENSP00000395642:F92I;ENSP00000328583:F141I;ENSP00000408799:F175I;ENSP00000416310:F132I;ENSP00000402111:F175I;ENSP00000401007:F132I	ENSP00000328583:F141I	F	-	1	0	SLC22A16	110884444	1.000000	0.71417	0.995000	0.50966	0.779000	0.44077	0.789000	0.26886	-0.166000	0.10890	-0.624000	0.04008	TTT		0.408	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		T	110777751	A	T	110777751	3	4	187	1	0	0	0	0	1	0	0	0	14450	72	3	5	1238	5	SLC22A16	6	110777751	Missense_Mutation	SNP	A	TCGA-23-1119-01A-02W-0484-10		110777751	60337316	5	10646											
ATM	472	hgsc.bcm.edu	37	11	108160508	108160508	+	Missense_Mutation	SNP	G	G	T	rs201526888		TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr11:108160508G>T	ENST00000452508.2	+	30	4605	c.4416G>T	c.(4414-4416)ttG>ttT	p.L1472F	ATM_ENST00000278616.4_Missense_Mutation_p.L1472F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1472					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L1472F(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTATACTTTGATTCACTATA	0.303			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	1	Substitution - Missense(1)	ovary(1)	11											59	60	60					11																	108160508		2201	4298	6499	107665718	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4416G>T	11.37:g.108160508G>T	ENSP00000388058:p.Leu1472Phe		107665718	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.681198|3.681198	0.68042|0.68042	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000278616;ENST00000452508;ENST00000389511|ENST00000531525	T;T|.	0.76578|.	-1.03;-1.03|.	5.56|5.56	2.64|2.64	0.31445|0.31445	Armadillo-type fold (1);|.	0.066456|.	0.64402|.	D|.	0.000016|.	T|.	0.56834|.	0.2012|.	L|L	0.58101|0.58101	1.795|1.795	0.41741|0.41741	D|D	0.989612|0.989612	D;D|.	0.76494|.	0.977;0.999|.	P;D|.	0.68943|.	0.847;0.961|.	T|.	0.50372|.	-0.8836|.	10|.	0.56958|.	D|.	0.05|.	.|.	5.6865|5.6865	0.17805|0.17805	0.2105:0.0:0.6515:0.1379|0.2105:0.0:0.6515:0.1379	.|.	124;1472|.	E7EV38;Q13315|.	.;ATM_HUMAN|.	F|L	1472;1472;124|142	ENSP00000278616:L1472F;ENSP00000388058:L1472F|.	ENSP00000278616:L1472F|.	L|X	+|+	3|2	2|2	ATM|ATM	107665718|107665718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	1.432000|1.432000	0.34936|0.34936	0.374000|0.374000	0.24650|0.24650	0.650000|0.650000	0.86243|0.86243	TTG|TGA		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108160508	G	T	108160508	3	4	187	1	0	0	0	0	1	0	0	0	1109	1281	45	3	4526	3	ATM	11	108160508	Missense_Mutation	SNP	G	TCGA-23-1119-01A-02W-0484-10		108160508	26846008	6	10647											
ENDOU	8909	hgsc.bcm.edu	37	12	48107168	48107168	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr12:48107168C>G	ENST00000422538.3	-	7	877	c.755G>C	c.(754-756)cGc>cCc	p.R252P	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Missense_Mutation_p.R189P|ENDOU_ENST00000542202.1_Missense_Mutation_p.R18P|ENDOU_ENST00000229003.3_Missense_Mutation_p.R211P	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	252					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)	p.R211P(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						TGAGCCATAGCGATCTGCAGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	12											136	124	128					12																	48107168		2203	4300	6503	46393435	SO:0001583	missense	8909			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"Serine peptidases / Serine peptidases"	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.755G>C	12.37:g.48107168C>G	ENSP00000397679:p.Arg252Pro		46393435	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	37	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063757	0.36373	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000542202;ENST00000545824	T;T	0.31769	1.48;1.49	5.64	5.64	0.86602	.	0.315127	0.33792	N	0.004544	T	0.37812	0.1017	N	0.25890	0.77	0.34679	D	0.724548	D;D;P;D	0.63880	0.985;0.993;0.934;0.985	P;P;P;P	0.61201	0.774;0.885;0.812;0.774	T	0.43523	-0.9386	10	0.36615	T	0.2	-35.7234	13.2741	0.60178	0.1585:0.8415:0.0:0.0	.	189;18;252;211	P21128-3;B7Z7N4;P21128;P21128-2	.;.;ENDOU_HUMAN;.	P	211;252;18;189	ENSP00000229003:R211P;ENSP00000397679:R252P	ENSP00000229003:R211P	R	-	2	0	ENDOU	46393435	0.954000	0.32549	1.000000	0.80357	0.115000	0.19883	1.856000	0.39389	2.653000	0.90120	0.655000	0.94253	CGC		0.522	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		G	48107168	C	G	48107168	3	3	187	1	0	0	0	0	1	0	0	0	5116	768	27	3	493	3	ENDOU	12	48107168	Missense_Mutation	SNP	C	TCGA-23-1119-01A-02W-0484-10		48107168	85744727	7	10648											
ZDHHC20	253832	hgsc.bcm.edu	37	13	21987904	21987904	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr13:21987904A>C	ENST00000400590.3	-	4	455	c.257T>G	c.(256-258)tTg>tGg	p.L86W	ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000422251.1_Missense_Mutation_p.L86W|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.L86W|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.L86W|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.L86W|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.L23W			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	86					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.L86W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		AGAATTGGACAAGTAGAACTA	0.303																																																1	Substitution - Missense(1)	ovary(1)	13											80	66	70					13																	21987904		1787	4056	5843	20885904	SO:0001583	missense	253832			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"Zinc fingers, DHHC-type"	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.257T>G	13.37:g.21987904A>C	ENSP00000383433:p.Leu86Trp		20885904	A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	ENST00000400590.3	37		.	.	.	.	.	.	.	.	.	.	A	17.85	3.490142	0.64074	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724;ENST00000422251	T;T;T;T;T	0.57107	0.63;0.68;0.64;0.42;0.63	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	M	0.85373	2.75	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79778	-0.1660	10	0.87932	D	0	4.925	14.3268	0.66526	1.0:0.0:0.0:0.0	.	23;86	B4DRN8;Q5W0Z9-3	.;.	W	86;86;86;23;86;86	ENSP00000383433:L86W;ENSP00000313583:L86W;ENSP00000371905:L86W;ENSP00000443236:L23W;ENSP00000401232:L86W	ENSP00000313583:L86W	L	-	2	0	ZDHHC20	20885904	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	6.769000	0.74985	2.136000	0.66102	0.402000	0.26972	TTG		0.303	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251		C	21987904	A	C	21987904	3	2	187	1	0	0	0	0	1	0	0	0	17611	131	5	5	843	5	ZDHHC20	13	21987904	Missense_Mutation	SNP	A	TCGA-23-1119-01A-02W-0484-10		21987904	93181974	8	10649											
TMTC4	84899	hgsc.bcm.edu	37	13	101315232	101315232	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr13:101315232C>T	ENST00000376234.3	-	4	670	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	TMTC4_ENST00000328767.5_Intron|TMTC4_ENST00000342624.5_Missense_Mutation_p.V180M	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	161						integral component of membrane (GO:0016021)		p.V180M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCGGTGTGCACAGGATGGACA	0.607																																																1	Substitution - Missense(1)	ovary(1)	13											58	66	63					13																	101315232		2149	4265	6414	100113233	SO:0001583	missense	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.481G>A	13.37:g.101315232C>T	ENSP00000365408:p.Val161Met		100113233	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273143	0.80580	.	.	ENSG00000125247	ENST00000376234;ENST00000342624	D;D	0.94650	-3.48;-3.48	5.67	5.67	0.87782	.	0.053088	0.85682	D	0.000000	D	0.97170	0.9075	M	0.77616	2.38	0.80722	D	1	D;P	0.71674	0.998;0.754	D;P	0.67725	0.953;0.622	D	0.97400	0.9995	10	0.87932	D	0	.	19.7824	0.96422	0.0:1.0:0.0:0.0	.	161;180	Q5T4D3;Q5T4D3-3	TMTC4_HUMAN;.	M	161;180	ENSP00000365408:V161M;ENSP00000343871:V180M	ENSP00000343871:V180M	V	-	1	0	TMTC4	100113233	1.000000	0.71417	0.962000	0.40283	0.712000	0.41017	4.495000	0.60353	2.677000	0.91161	0.561000	0.74099	GTG		0.607	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		T	101315232	C	T	101315232	3	4	187	1	0	0	0	0	1	0	0	0	16263	478	17	2	1804	2	TMTC4	13	101315232	Missense_Mutation	SNP	C	TCGA-23-1119-01A-02W-0484-10	79327328	101315232	13854646	9	10650											
RDH11	51109	hgsc.bcm.edu	37	14	68145137	68145137	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr14:68145137G>C	ENST00000381346.4	-	7	968	c.858C>G	c.(856-858)gaC>gaG	p.D286E	RP11-1012A1.4_ENST00000554493.1_Intron|RDH11_ENST00000428130.2_Missense_Mutation_p.D216E|RP11-1012A1.4_ENST00000553306.1_Intron|RDH11_ENST00000553384.1_Missense_Mutation_p.D273E	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	286					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.D286E(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CCACATGACAGTCACTGGAAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	14											80	71	74					14																	68145137		2203	4300	6503	67214890	SO:0001583	missense	51109			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	17964	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 1", "androgen-regulated short-chain dehydrogenase/reductase 1"	607849	"retinol dehydrogenase 11 (all-trans and 9-cis)"			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.858C>G	14.37:g.68145137G>C	ENSP00000370750:p.Asp286Glu		67214890	A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203003	0.58234	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.31	1.09	0.20402	NAD(P)-binding domain (1);	0.046925	0.85682	N	0.000000	T	0.62441	0.2428	M	0.78223	2.4	0.22081	N	0.999376	B;B;B	0.30511	0.032;0.282;0.185	B;B;B	0.35655	0.019;0.207;0.077	T	0.57642	-0.7776	10	0.52906	T	0.07	.	3.3071	0.07003	0.1558:0.135:0.5701:0.1391	.	216;273;286	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	E	286;273;216;172	ENSP00000370750:D286E;ENSP00000452079:D273E;ENSP00000416395:D216E;ENSP00000450802:D172E	ENSP00000370750:D286E	D	-	3	2	RDH11	67214890	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	0.577000	0.23758	0.345000	0.23873	0.650000	0.86243	GAC		0.478	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			C	68145137	G	C	68145137	3	2	187	1	0	0	0	0	1	0	0	0	13193	1020	36	3	102	3	RDH11	14	68145137	Missense_Mutation	SNP	G	TCGA-23-1119-01A-02W-0484-10		68145137	39204403	10	10651											
NRXN3	9369	hgsc.bcm.edu	37	14	79117669	79117669	+	Splice_Site	SNP	G	G	C			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr14:79117669G>C	ENST00000554719.1	+	3	593	c.102G>C	c.(100-102)gaG>gaC	p.E34D	NRXN3_ENST00000335750.5_Splice_Site_p.E34D	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.E34D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCTTAAAGAGGTAAAGTTCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	14											85	79	81					14																	79117669		2203	4300	6503	78187422	SO:0001630	splice_region_variant	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.102+1G>C	14.37:g.79117669G>C			78187422	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821314	0.50633	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.67345	-0.26;-0.26	6.01	6.01	0.97437	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.051848	0.85682	D	0.000000	T	0.74913	0.3779	.	.	.	0.80722	D	1	D;B	0.52996	0.957;0.096	P;B	0.51453	0.67;0.041	T	0.72290	-0.4337	8	.	.	.	.	20.5141	0.99211	0.0:0.0:1.0:0.0	.	407;34	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	D	407;405;34;34	ENSP00000451648:E34D;ENSP00000338349:E34D	.	E	+	3	2	NRXN3	78187422	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.869000	0.99810	2.850000	0.98022	0.655000	0.94253	GAG		0.438	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	Missense_Mutation	C	79117669	G	C	79117669	5	2	187	1	0	0	0	0	0	0	1	0	10667	1014	35	3	104	3	NRXN3	14	79117669	Splice_Site	SNP	G	TCGA-23-1119-01A-02W-0484-10	10972532	79117669	28231871	11	10652											
SETD1A	9739	hgsc.bcm.edu	37	16	30995249	30995249	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr16:30995249G>C	ENST00000262519.8	+	19	5715	c.5029G>C	c.(5029-5031)Gac>Cac	p.D1677H	HSD3B7_ENST00000262520.6_5'Flank|HSD3B7_ENST00000353250.5_5'Flank|HSD3B7_ENST00000297679.5_5'Flank	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1677	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D1677H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CATTGGCGTGGACGAGGAGAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	16											105	75	85					16																	30995249		2197	4300	6497	30902750	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.5029G>C	16.37:g.30995249G>C	ENSP00000262519:p.Asp1677His		30902750	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803653	0.31869	.	.	ENSG00000099381	ENST00000262519	D	0.81739	-1.53	4.45	4.45	0.53987	SET domain (3);	0.071105	0.56097	D	0.000035	T	0.82010	0.4944	L	0.45228	1.405	0.48087	D	0.999588	D	0.59357	0.985	D	0.63877	0.919	T	0.81805	-0.0764	10	0.56958	D	0.05	.	6.6278	0.22839	0.1967:0.0:0.8032:0.0	.	1677	O15047	SET1A_HUMAN	H	1677	ENSP00000262519:D1677H	ENSP00000262519:D1677H	D	+	1	0	SETD1A	30902750	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.339000	0.79282	2.307000	0.77673	0.455000	0.32223	GAC		0.562	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		C	30995249	G	C	30995249	3	2	187	1	0	0	0	0	1	0	0	0	14133	1174	41	3	5099	3	SETD1A	16	30995249	Missense_Mutation	SNP	G	TCGA-23-1119-01A-02W-0484-10		30995249	59359504	12	10653											
NOD2	64127	hgsc.bcm.edu	37	16	50745015	50745015	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr16:50745015C>T	ENST00000300589.2	+	4	1298	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	398	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.T398I(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGCTCCCCGACCGACCCCACC	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											66	67	67					16																	50745015		2198	4300	6498	49302516	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1193C>T	16.37:g.50745015C>T	ENSP00000300589:p.Thr398Ile		49302516	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	0.288	-0.981889	0.02197	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.78364	-1.17	5.59	2.52	0.30459	NACHT nucleoside triphosphatase (1);	0.523671	0.18981	N	0.125885	T	0.69593	0.3128	L	0.58810	1.83	0.09310	N	1	B;B;B	0.26318	0.041;0.146;0.041	B;B;B	0.31337	0.034;0.128;0.034	T	0.57283	-0.7838	10	0.31617	T	0.26	.	3.933	0.09293	0.1675:0.5679:0.0:0.2646	.	182;371;398	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	I	371;398	ENSP00000300589:T398I	ENSP00000300589:T398I	T	+	2	0	NOD2	49302516	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.458000	0.21892	0.287000	0.22375	-0.258000	0.10820	ACC		0.587	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		T	50745015	C	T	50745015	3	4	187	1	0	0	0	0	1	0	0	0	10517	507	18	2	1207	2	NOD2	16	50745015	Missense_Mutation	SNP	C	TCGA-23-1119-01A-02W-0484-10	19749766	50745015	39609738	13	10654											
TP53	7157	hgsc.bcm.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	17											47	47	47					17																	7578394		2203	4300	6503	7519119	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		7519119	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	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578394	T	C	7578394	3	2	187	1	0	0	0	0	1	0	0	0	16381	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-23-1119-01A-02W-0484-10		7578394	73616816	14	10655											
NF1	4763	hgsc.bcm.edu	37	17	29676194	29676194	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1119-01A-02W-0484-10	TCGA-23-1119-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e2865e15-2df1-4c56-be3a-652583b8d1e9	59f3ed74-f187-499d-8a77-aab31dcfc5cb	g.chr17:29676194C>G	ENST00000358273.4	+	49	7629	c.7246C>G	c.(7246-7248)Cta>Gta	p.L2416V	NF1_ENST00000356175.3_Missense_Mutation_p.L2395V|NF1_ENST00000444181.2_Missense_Mutation_p.L209V|NF1_ENST00000417592.2_Missense_Mutation_p.L129V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2416					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.L2416V(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTACATACACTACTAACTCT	0.333			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17											82	77	79					17																	29676194		2203	4300	6503	26700320	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7246C>G	17.37:g.29676194C>G	ENSP00000351015:p.Leu2416Val		26700320	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094170	0.76870	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.72615	0.87;0.87;0.87;-0.67	5.78	3.81	0.43845	Armadillo-type fold (2);	0.077748	0.53938	D	0.000051	T	0.81064	0.4745	M	0.67397	2.05	0.54753	D	0.999985	D;P	0.56035	0.974;0.874	D;P	0.70487	0.969;0.477	T	0.81777	-0.0777	10	0.72032	D	0.01	.	12.3242	0.55001	0.0:0.864:0.0:0.136	.	2395;2416	P21359-2;P21359	.;NF1_HUMAN	V	2416;2395;2061;209;129	ENSP00000351015:L2416V;ENSP00000348498:L2395V;ENSP00000389907:L2061V;ENSP00000396481:L209V	ENSP00000348498:L2395V	L	+	1	2	NF1	26700320	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.409000	0.59768	0.814000	0.34374	0.655000	0.94253	CTA		0.333	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		G	29676194	C	G	29676194	3	3	187	1	0	0	0	0	1	0	0	0	10356	564	20	3	7501	3	NF1	17	29676194	Missense_Mutation	SNP	C	TCGA-23-1119-01A-02W-0484-10	22097800	29676194	51519016	15	10656											
KIAA1751	85452	hgsc.bcm.edu	37	1	1920336	1920337	+	In_Frame_Ins	INS	-	-	CCC			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr1:1920336_1920337insCCC	ENST00000434971.2	-	3	175_176	c.143_144insGGG	c.(142-144)gga>ggGGGa	p.48_48G>GG				Q69YW0	CA222_HUMAN		274								p.G48_H49insG(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTGCTGTGTCCCGGGTCCAC	0.584																																																1	Insertion - In frame(1)	ovary(1)	1																																								1910197	SO:0001652	inframe_insertion	85452																														ENST00000434971.2:c.141_143dupGGG	1.37:g.1920337_1920339dupCCC	ENSP00000408078:p.Gly48dup		1910196		In_Frame_Ins	INS	ENST00000434971.2	37																																																																																					0.584	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				CCC	1920337	-	CCC	1920336	7	5	188	1	0	1	1	0	0	0	0	0	8256	1654	58	0	2208	0	KIAA1751	1	1920336	In_Frame_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10		1920336	247330285	1	10657											
CASP9	842	hgsc.bcm.edu	37	1	15831240	15831240	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr1:15831240T>G	ENST00000333868.5	-	6	828	c.734A>C	c.(733-735)cAg>cCg	p.Q245P	CASP9_ENST00000348549.5_Intron|CASP9_ENST00000546424.1_Missense_Mutation_p.Q245P|CASP9_ENST00000375890.4_Missense_Mutation_p.Q162P	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	245					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.Q245P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CCCTGGGAACTGCAGGTGGCT	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											53	54	54					1																	15831240		2203	4300	6503	15703827	SO:0001583	missense	842			U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.734A>C	1.37:g.15831240T>G	ENSP00000330237:p.Gln245Pro		15703827	B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	CCDS158.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986980	0.74589	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522;ENST00000440484	T;T;T;T;T	0.03094	4.12;4.12;4.12;4.12;4.05	5.45	5.45	0.79879	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.106824	0.64402	D	0.000003	T	0.20047	0.0482	M	0.85197	2.74	0.58432	D	0.999991	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.991	T	0.00505	-1.1700	10	0.59425	D	0.04	.	13.4602	0.61223	0.0:0.0:0.0:1.0	.	245;245	P55211;F8VVS7	CASP9_HUMAN;.	P	245;245;89;162;162;215	ENSP00000449584:Q245P;ENSP00000330237:Q245P;ENSP00000365051:Q162P;ENSP00000396540:Q162P;ENSP00000411304:Q215P	ENSP00000330237:Q245P	Q	-	2	0	CASP9	15703827	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.302000	0.65733	2.054000	0.61138	0.533000	0.62120	CAG		0.547	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		G	15831240	T	G	15831240	3	3	188	1	0	0	0	0	1	0	0	0	2679	1580	55	5	532	5	CASP9	1	15831240	Missense_Mutation	SNP	T	TCGA-23-1120-01A-02W-0484-10	13910904	15831240	233419381	2	10658											
COL9A2	1298	hgsc.bcm.edu	37	1	40779891	40779892	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr1:40779891_40779892insGA	ENST00000372748.3	-	4	330_331	c.234_235insTC	c.(232-237)gggaagfs	p.K79fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	79	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.K79fs*8(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			ATCCCGGGCTTCCCGTCTGGCC	0.589																																																1	Insertion - Frameshift(1)	ovary(1)	1																																								40552479	SO:0001589	frameshift_variant	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.234_235insTC	1.37:g.40779891_40779892insGA	ENSP00000361834:p.Lys79fs		40552478	B2RMP9	Frame_Shift_Ins	INS	ENST00000372748.3	37	CCDS450.1																																																																																				0.589	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		GA	40779892	-	GA	40779891	7	5	188	1	0	1	1	0	0	0	0	0	3708	1792	62	0	1950	0	COL9A2	1	40779891	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	24948651	40779891	208470730	3	10659											
USP24	23358	hgsc.bcm.edu	37	1	55600023	55600023	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr1:55600023G>C	ENST00000294383.6	-	29	3264	c.3265C>G	c.(3265-3267)Ctc>Gtc	p.L1089V	USP24_ENST00000407756.1_Missense_Mutation_p.L929V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1089					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.L1006V(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGATTGGCGAGCTGATAAAGC	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											35	34	34					1																	55600023		1832	4087	5919	55372611	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3265C>G	1.37:g.55600023G>C	ENSP00000294383:p.Leu1089Val		55372611	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193058	0.58017	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.04234	3.71;3.67	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	L	0.44542	1.39	0.80722	D	1	D	0.61080	0.989	P	0.52957	0.714	T	0.02173	-1.1201	10	0.33141	T	0.24	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	929	B7WPF4	.	V	1089;929	ENSP00000294383:L1089V;ENSP00000385700:L929V	ENSP00000294383:L1089V	L	-	1	0	USP24	55372611	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.476000	0.97823	2.868000	0.98415	0.557000	0.71058	CTC		0.378	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			C	55600023	G	C	55600023	3	2	188	1	0	0	0	0	1	0	0	0	17055	971	34	3	4757	3	USP24	1	55600023	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10	14820132	55600023	193650598	4	10660											
VAV3	10451	hgsc.bcm.edu	37	1	108298100	108298100	+	Silent	SNP	A	A	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr1:108298100A>G	ENST00000370056.4	-	12	1396	c.1122T>C	c.(1120-1122)gaT>gaC	p.D374D	VAV3_ENST00000527011.1_Silent_p.D374D|VAV3_ENST00000371846.4_Silent_p.D309D|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	374					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.D374D(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GGGTCTCATTATCTCTTTTCA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	1											84	81	82					1																	108298100		2203	4300	6503	108099623	SO:0001819	synonymous_variant	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1122T>C	1.37:g.108298100A>G			108099623	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	A	9.113	1.007034	0.19199	.	.	ENSG00000134215	ENST00000490388	.	.	.	5.61	3.31	0.37934	.	.	.	.	.	T	0.43456	0.1248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33777	-0.9855	4	.	.	.	.	8.0842	0.30762	0.7055:0.0:0.2945:0.0	.	.	.	.	T	369	.	.	I	-	2	0	VAV3	108099623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.916000	0.28651	0.424000	0.26061	0.533000	0.62120	ATA		0.378	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		G	108298100	A	G	108298100	2	3	188	1	0	0	0	0	0	0	0	1	17133	446	16	4		4	VAV3	1	108298100	Silent	SNP	A	TCGA-23-1120-01A-02W-0484-10	52698077	108298100	140952521	5	10661											
NOTCH2	4853	hgsc.bcm.edu	37	1	120468421	120468421	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr1:120468421C>A	ENST00000256646.2	-	25	4237	c.4018G>T	c.(4018-4020)Gca>Tca	p.A1340S	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1340	EGF-like 34. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.A1340S(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCACCTTGCCCCGGAAAAT	0.517			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	ovary(1)	1											26	24	25					1																	120468421		2202	4296	6498	120269944	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4018G>T	1.37:g.120468421C>A	ENSP00000256646:p.Ala1340Ser		120269944	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	3.658	-0.070143	0.07228	.	.	ENSG00000134250	ENST00000256646	D	0.92149	-2.98	5.84	3.93	0.45458	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.37577	U	0.002033	T	0.62048	0.2396	N	0.04994	-0.135	0.20975	N	0.999812	B	0.14012	0.009	B	0.15052	0.012	T	0.54603	-0.8269	10	0.08599	T	0.76	.	7.6421	0.28300	0.2946:0.6306:0.0:0.0748	.	1340	Q04721	NOTC2_HUMAN	S	1340	ENSP00000256646:A1340S	ENSP00000256646:A1340S	A	-	1	0	NOTCH2	120269944	0.016000	0.18221	0.917000	0.36280	0.527000	0.34593	0.873000	0.28052	1.427000	0.47276	0.561000	0.74099	GCA		0.517	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120468421	C	A	120468421	3	1	188	1	0	0	0	0	1	0	0	0	10548	739	26	3	3437	3	NOTCH2	1	120468421	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	12170321	120468421	128782200	6	10662											
LIX1L	128077	hgsc.bcm.edu	37	1	145492369	145492369	+	Silent	SNP	T	T	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr1:145492369T>A	ENST00000369308.3	+	3	665	c.591T>A	c.(589-591)tcT>tcA	p.S197S	RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000366105.2_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	197								p.S197S(1)		large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTGGCATCTTTTAATGTAA	0.443																																																1	Substitution - coding silent(1)	ovary(1)	1											98	101	100					1																	145492369		2203	4300	6503	144203726	SO:0001819	synonymous_variant	128077			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"Lix1 homolog (mouse) like", "Lix1 homolog (chicken)-like"			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.591T>A	1.37:g.145492369T>A			144203726	Q6AI36	Silent	SNP	ENST00000369308.3	37	CCDS915.1																																																																																				0.443	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		A	145492369	T	A	145492369	2	1	188	1	0	0	0	0	0	0	0	1	8832	1596	56	5		5	LIX1L	1	145492369	Silent	SNP	T	TCGA-23-1120-01A-02W-0484-10	25023948	145492369	103758252	7	10663											
SOX13	9580	hgsc.bcm.edu	37	1	204093883	204093883	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr1:204093883C>G	ENST00000367204.1	+	13	1599	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	497					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P497R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGCCGCGGCCCAAGCGCACC	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											20	24	22					1																	204093883		2199	4297	6496	202360506	SO:0001583	missense	9580				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1490C>G	1.37:g.204093883C>G	ENSP00000356172:p.Pro497Arg		202360506	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672969	0.88445	.	.	ENSG00000143842	ENST00000367204	T	0.61158	0.13	5.53	5.53	0.82687	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.82047	-0.0651	10	0.87932	D	0	.	19.0635	0.93101	0.0:1.0:0.0:0.0	.	364;364;497	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	R	497	ENSP00000356172:P497R	ENSP00000356172:P497R	P	+	2	0	SOX13	202360506	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.779000	0.85648	2.596000	0.87737	0.491000	0.48974	CCC		0.627	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		G	204093883	C	G	204093883	3	3	188	1	0	0	0	0	1	0	0	0	14947	623	22	3	1536	3	SOX13	1	204093883	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	58601514	204093883	45156738	8	10664											
MIA3	375056	hgsc.bcm.edu	37	1	222803382	222803382	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr1:222803382G>C	ENST00000344922.5	+	4	2845	c.2820G>C	c.(2818-2820)caG>caC	p.Q940H	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.Q940H|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	940					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Q940H(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCGGTTCCAGAAGTACTTTA	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											82	76	78					1																	222803382		1930	4163	6093	220870005	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2820G>C	1.37:g.222803382G>C	ENSP00000340900:p.Gln940His		220870005	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.130|6.130	0.392161|0.392161	0.11581|0.11581	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|T;T	.|0.05258	.|3.47;3.47	5.25|5.25	1.76|1.76	0.24704|0.24704	.|.	.|.	.|.	.|.	.|.	T|T	0.11024|0.11024	0.0269|0.0269	L|L	0.50333|0.50333	1.59|1.59	0.25916|0.25916	N|N	0.983173|0.983173	.|P;P	.|0.52842	.|0.956;0.612	.|P;B	.|0.52267	.|0.694;0.219	T|T	0.14282|0.14282	-1.0478|-1.0478	5|9	.|0.62326	.|D	.|0.03	.|.	7.032|7.032	0.24972|0.24972	0.2384:0.1363:0.6253:0.0|0.2384:0.1363:0.6253:0.0	.|.	.|940;940	.|Q5JRA6-2;Q5JRA6	.|.;MIA3_HUMAN	Q|H	523|940	.|ENSP00000340900:Q940H;ENSP00000340587:Q940H	.|ENSP00000325973:Q940H	E|Q	+|+	1|3	0|2	MIA3|MIA3	220870005|220870005	0.162000|0.162000	0.22906|0.22906	0.974000|0.974000	0.42286|0.42286	0.005000|0.005000	0.04900|0.04900	-0.027000|-0.027000	0.12371|0.12371	0.690000|0.690000	0.31570|0.31570	-0.448000|-0.448000	0.05591|0.05591	GAA|CAG		0.443	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		C	222803382	G	C	222803382	3	2	188	1	0	0	0	0	1	0	0	0	9565	933	33	3	2834	3	MIA3	1	222803382	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10	18709499	222803382	26447239	9	10665											
OTOF	9381	hgsc.bcm.edu	37	2	26696340	26696341	+	In_Frame_Ins	INS	-	-	TCA			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr2:26696340_26696341insTCA	ENST00000272371.2	-	28	3629_3630	c.3503_3504insTGA	c.(3502-3504)cag>caTGAg	p.1168_1168Q>HE	OTOF_ENST00000338581.6_In_Frame_Ins_p.421_421Q>HE|OTOF_ENST00000402415.3_In_Frame_Ins_p.478_478Q>HE|OTOF_ENST00000403946.3_In_Frame_Ins_p.1168_1168Q>HE|OTOF_ENST00000339598.3_In_Frame_Ins_p.421_421Q>HE	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1168					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.Q421>HE(1)|p.Q1168>HE(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGGACGACTGCACCCCCTT	0.599																																					GBM(102;732 1451 20652 24062 31372)											2	Complex - insertion inframe(2)	ovary(2)	2																																								26549845	SO:0001652	inframe_insertion	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3503_3504insTGA	2.37:g.26696340_26696341insTCA	ENSP00000272371:p.Gln1168delinsHisGlu		26549844	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Ins	INS	ENST00000272371.2	37	CCDS1725.1																																																																																				0.599	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			TCA	26696341	-	TCA	26696340	7	5	188	1	0	1	1	0	0	0	0	0	11303	564	20	0	2750	0	OTOF	2	26696340	In_Frame_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10		26696340	216503033	10	10666											
OTOF	9381	hgsc.bcm.edu	37	2	26739340	26739340	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr2:26739340A>C	ENST00000272371.2	-	5	581	c.455T>G	c.(454-456)cTg>cGg	p.L152R	OTOF_ENST00000403946.3_Missense_Mutation_p.L152R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	152					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.L152R(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGGAGCAGTCCATCCGT	0.642																																					GBM(102;732 1451 20652 24062 31372)											1	Substitution - Missense(1)	ovary(1)	2											78	84	82					2																	26739340		2203	4300	6503	26592844	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.455T>G	2.37:g.26739340A>C	ENSP00000272371:p.Leu152Arg		26592844	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324142	0.41197	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.81247	-1.47;-1.47	5.46	5.46	0.80206	.	0.646085	0.15103	N	0.280439	T	0.76863	0.4047	M	0.62723	1.935	0.51233	D	0.999916	B	0.12013	0.005	B	0.09377	0.004	T	0.69917	-0.5015	10	0.14252	T	0.57	-16.6119	13.5006	0.61452	1.0:0.0:0.0:0.0	.	152	Q9HC10	OTOF_HUMAN	R	152;152;21	ENSP00000272371:L152R;ENSP00000385255:L152R	ENSP00000272371:L152R	L	-	2	0	OTOF	26592844	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	5.395000	0.66291	2.081000	0.62600	0.533000	0.62120	CTG		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			C	26739340	A	C	26739340	3	2	188	1	0	0	0	0	1	0	0	0	11303	188	7	5	6035	5	OTOF	2	26739340	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	43000	26739340	216460033	11	10667											
THADA	63892	hgsc.bcm.edu	37	2	43514123	43514123	+	Silent	SNP	T	T	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr2:43514123T>C	ENST00000405006.4	-	35	5439	c.5088A>G	c.(5086-5088)acA>acG	p.T1696T	THADA_ENST00000415080.2_Silent_p.T1377T|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Silent_p.T1696T	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1696								p.T1696T(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCCTAGACTCTGTAGGAAGAT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	2											90	90	90					2																	43514123		2000	4181	6181	43367627	SO:0001819	synonymous_variant	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5088A>G	2.37:g.43514123T>C			43367627	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	6.230	0.410535	0.11812	.	.	ENSG00000115970	ENST00000407351	.	.	.	5.78	-1.72	0.08107	.	.	.	.	.	T	0.38904	0.1058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32877	-0.9890	4	.	.	.	.	0.8662	0.01204	0.2323:0.3398:0.1538:0.2741	.	.	.	.	R	936	.	.	Q	-	2	0	THADA	43367627	0.048000	0.20356	0.997000	0.53966	0.415000	0.31203	-1.641000	0.02007	0.042000	0.15717	0.533000	0.62120	CAG		0.488	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		C	43514123	T	C	43514123	2	2	188	1	0	0	0	0	0	0	0	1	15840	1567	55	4		4	THADA	2	43514123	Silent	SNP	T	TCGA-23-1120-01A-02W-0484-10	16774783	43514123	199685250	12	10668											
CCDC88A	55704	hgsc.bcm.edu	37	2	55646004	55646004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr2:55646004delC	ENST00000436346.1	-	2	953	c.112delG	c.(112-114)gaafs	p.E38fs	CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.E38fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.E38fs|CCDC88A_ENST00000471947.1_5'UTR|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.E38fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	38					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.E38fs*11(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCCACATATTCATCAAGGTTG	0.458																																																1	Deletion - Frameshift(1)	ovary(1)	2											139	128	132					2																	55646004		2203	4300	6503	55499508	SO:0001589	frameshift_variant	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.112delG	2.37:g.55646004delC	ENSP00000410608:p.Glu38fs		55499508	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37																																																																																					0.458	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		-	55646004	C	-	55646004	7	5	188	1	0	1	0	1	0	0	0	0	2863	835	29	0	5627	0	CCDC88A	2	55646004	Frame_Shift_Del	DEL	C	TCGA-23-1120-01A-02W-0484-10	12131881	55646004	187553369	13	10669											
ATP5G3	518	hgsc.bcm.edu	37	2	176043978	176043978	+	Splice_Site	SNP	C	C	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr2:176043978C>G	ENST00000284727.4	-	4	3145	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R	ATP5G3_ENST00000392541.3_Splice_Site_p.G41R|Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Splice_Site_p.G41R	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	41					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.G41R(1)		large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			ACCGTAGAGCCCTGGAAAACA	0.378																																					GBM(30;387 605 18606 28805 47989)											1	Substitution - Missense(1)	ovary(1)	2											49	49	49					2																	176043978		2203	4300	6503	175752224	SO:0001630	splice_region_variant	518			BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	843	protein-coding gene	gene with protein product		602736	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.121-1G>C	2.37:g.176043978C>G			175752224	B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328682	0.24167	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.21191	2.02;2.02;2.02	5.6	2.83	0.33086	.	0.458120	0.26704	N	0.022940	T	0.14227	0.0344	L	0.36672	1.1	0.47276	D	0.99937	B	0.06786	0.001	B	0.04013	0.001	T	0.11036	-1.0604	10	0.13853	T	0.58	0.0483	9.3178	0.37946	0.0:0.7493:0.1194:0.1314	.	41	P48201	AT5G3_HUMAN	R	41	ENSP00000284727:G41R;ENSP00000387317:G41R;ENSP00000376324:G41R	ENSP00000284727:G41R	G	-	1	0	ATP5G3	175752224	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	1.738000	0.38207	0.319000	0.23209	0.557000	0.71058	GGC		0.378	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689	Missense_Mutation	G	176043978	C	G	176043978	5	3	188	1	0	0	0	0	0	0	1	0	1155	637	22	3	319	3	ATP5G3	2	176043978	Splice_Site	SNP	C	TCGA-23-1120-01A-02W-0484-10	120397974	176043978	67155395	14	10670											
NEUROD1	4760	hgsc.bcm.edu	37	2	182542923	182542924	+	Frame_Shift_Ins	INS	-	-	G	rs201829057		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr2:182542923_182542924insG	ENST00000295108.3	-	2	1121_1122	c.664_665insC	c.(664-666)cagfs	p.Q222fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	222					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q222fs*22(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCCAGGCGACTGGTAGGAGTAG	0.639																																																1	Insertion - Frameshift(1)	ovary(1)	2																																								182251169	SO:0001589	frameshift_variant	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.665dupC	2.37:g.182542925_182542925dupG	ENSP00000295108:p.Gln222fs		182251168	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	CCDS2283.1																																																																																				0.639	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		G	182542924	-	G	182542923	7	5	188	1	0	1	1	0	0	0	0	0	10348	1580	55	0	409	0	NEUROD1	2	182542923	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	6498945	182542923	60656450	15	10671											
BMPR2	659	hgsc.bcm.edu	37	2	203420662	203420662	+	Silent	SNP	G	G	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr2:203420662G>A	ENST00000374580.4	+	12	2813	c.2274G>A	c.(2272-2274)ttG>ttA	p.L758L	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	758					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.L758L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CTACTAGTTTGCCTTTGAACA	0.443																																																1	Substitution - coding silent(1)	ovary(1)	2											58	61	60					2																	203420662		2203	4300	6503	203128907	SO:0001819	synonymous_variant	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2274G>A	2.37:g.203420662G>A			203128907	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	CCDS33361.1																																																																																				0.443	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		A	203420662	G	A	203420662	2	1	188	1	0	0	0	0	0	0	0	1	1471	1310	46	2		2	BMPR2	2	203420662	Silent	SNP	G	TCGA-23-1120-01A-02W-0484-10	20877739	203420662	39778711	16	10672											
ECEL1	9427	hgsc.bcm.edu	37	2	233347595	233347596	+	Frame_Shift_Del	DEL	CT	CT	-	rs202046121		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr2:233347595_233347596delCT	ENST00000304546.1	-	10	1860_1861	c.1650_1651delAG	c.(1648-1653)tcagttfs	p.V551fs	ECEL1_ENST00000409941.1_Frame_Shift_Del_p.V551fs	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	551					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)	p.V551fs*1(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATCTTCTTAACTGAGAGCTGGA	0.584																																																1	Deletion - Frameshift(1)	ovary(1)	2																																								233055840	SO:0001589	frameshift_variant	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1650_1651delAG	2.37:g.233347595_233347596delCT	ENSP00000302051:p.Val551fs		233055839	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Frame_Shift_Del	DEL	ENST00000304546.1	37	CCDS2493.1																																																																																				0.584	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		-	233347596	CT	-	233347595	7	5	188	1	0	1	0	1	0	0	0	0	4891	565	20	0	712	0	ECEL1	2	233347595	Frame_Shift_Del	DEL	CT	TCGA-23-1120-01A-02W-0484-10	29926933	233347595	9851778	17	10673											
SNED1	25992	hgsc.bcm.edu	37	2	242004803	242004806	+	Frame_Shift_Del	DEL	CAGG	CAGG	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	CAGG	CAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr2:242004803_242004806delCAGG	ENST00000310397.8	+	21	2802_2805	c.2802_2805delCAGG	c.(2800-2805)gccaggfs	p.AR934fs	SNED1_ENST00000405547.3_Frame_Shift_Del_p.AR934fs|SNED1_ENST00000401884.1_Frame_Shift_Del_p.AR934fs|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Frame_Shift_Del_p.AR934fs	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	934	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Q936fs*47(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTCCAGCCGCCAGGCAGATGCTTG	0.627																																																1	Deletion - Frameshift(1)	ovary(1)	2																																								241653479	SO:0001589	frameshift_variant	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2802_2805delCAGG	2.37:g.242004803_242004806delCAGG	ENSP00000308893:p.Ala934fs		241653476	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Frame_Shift_Del	DEL	ENST00000310397.8	37	CCDS46562.1																																																																																				0.627	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		-	242004806	CAGG	-	242004803	7	5	188	1	0	1	0	1	0	0	0	0	14848	581	21	0	2884	0	SNED1	2	242004803	Frame_Shift_Del	DEL	CAGG	TCGA-23-1120-01A-02W-0484-10	8657208	242004803	1194570	18	10674											
ATP2B2	491	hgsc.bcm.edu	37	3	10401757	10401757	+	Missense_Mutation	SNP	C	C	G	rs554270950		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr3:10401757C>G	ENST00000352432.4	-	12	1779	c.1710G>C	c.(1708-1710)gaG>gaC	p.E570D	ATP2B2_ENST00000343816.4_Missense_Mutation_p.E556D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E570D|ATP2B2_ENST00000397077.1_Missense_Mutation_p.E525D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E525D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	570					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.E525D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCAGGCCGCACTCCGTCTTGT	0.637																																					Ovarian(125;1619 1709 15675 19819 38835)											1	Substitution - Missense(1)	ovary(1)	3											61	54	57					3																	10401757		2203	4300	6503	10376757	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1710G>C	3.37:g.10401757C>G	ENSP00000324172:p.Glu570Asp		10376757	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947103	0.73672	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	4.93	1.08	0.20341	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.85366	0.5680	M	0.79475	2.455	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.999	D;D;D	0.77004	0.984;0.986;0.989	D	0.85076	0.0943	10	0.87932	D	0	-37.8701	10.1781	0.42950	0.0:0.6059:0.0:0.3941	.	505;537;570	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	D	570;525;525;570;556;505;426;570	ENSP00000324172:E570D;ENSP00000373311:E525D;ENSP00000380267:E525D;ENSP00000353414:E570D;ENSP00000344677:E556D;ENSP00000414854:E426D	ENSP00000342954:E570D	E	-	3	2	ATP2B2	10376757	0.073000	0.21202	0.995000	0.50966	0.995000	0.86356	-0.461000	0.06712	0.496000	0.27904	0.591000	0.81541	GAG		0.637	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		G	10401757	C	G	10401757	3	3	188	1	0	0	0	0	1	0	0	0	1140	564	20	3	2065	3	ATP2B2	3	10401757	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10		10401757	187620673	19	10675											
SCN11A	11280	hgsc.bcm.edu	37	3	38889039	38889039	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr3:38889039T>A	ENST00000302328.3	-	26	4720	c.4522A>T	c.(4522-4524)Atg>Ttg	p.M1508L	SCN11A_ENST00000450244.1_Missense_Mutation_p.M1508L|SCN11A_ENST00000456224.3_Missense_Mutation_p.M1470L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1508					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M1508L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAGATAAACATAATCAGAAAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											80	80	80					3																	38889039		2203	4300	6503	38864043	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4522A>T	3.37:g.38889039T>A	ENSP00000307599:p.Met1508Leu		38864043	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.982917	0.93044	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97941	-4.62;-4.62;-4.62	5.81	5.81	0.92471	Ion transport (1);	0.120921	0.85682	D	0.000000	D	0.98337	0.9448	M	0.73598	2.24	0.53005	D	0.999966	D	0.60160	0.987	P	0.61592	0.891	D	0.99349	1.0914	10	0.87932	D	0	.	16.1668	0.81768	0.0:0.0:0.0:1.0	.	1508	Q9UI33	SCNBA_HUMAN	L	1508;1508;1470	ENSP00000307599:M1508L;ENSP00000400945:M1508L;ENSP00000416757:M1470L	ENSP00000307599:M1508L	M	-	1	0	SCN11A	38864043	1.000000	0.71417	0.980000	0.43619	0.924000	0.55760	8.032000	0.88838	2.220000	0.72140	0.519000	0.50382	ATG		0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		A	38889039	T	A	38889039	3	1	188	1	0	0	0	0	1	0	0	0	13916	1406	49	5	857	5	SCN11A	3	38889039	Missense_Mutation	SNP	T	TCGA-23-1120-01A-02W-0484-10	28487282	38889039	159133391	20	10676											
DNAH1	25981	hgsc.bcm.edu	37	3	52404172	52404174	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr3:52404172_52404174delCAA	ENST00000420323.2	+	39	6446_6448	c.6185_6187delCAA	c.(6184-6189)tcaacc>tcc	p.T2063del		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2063					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T2063delT(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGATCGCCTCAACCAACTGCAA	0.576																																																1	Deletion - In frame(1)	ovary(1)	3																																								52379214	SO:0001651	inframe_deletion	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6185_6187delCAA	3.37:g.52404172_52404174delCAA	ENSP00000401514:p.Thr2063del		52379212	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	In_Frame_Del	DEL	ENST00000420323.2	37	CCDS46842.1																																																																																				0.576	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		-	52404174	CAA	-	52404172	7	5	188	1	0	1	0	1	0	0	0	0	4597	838	29	0	6335	0	DNAH1	3	52404172	In_Frame_Del	DEL	CAA	TCGA-23-1120-01A-02W-0484-10	13515133	52404172	145618258	21	10677											
ACTR8	93973	hgsc.bcm.edu	37	3	53904167	53904167	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr3:53904167C>G	ENST00000335754.3	-	12	1673	c.1573G>C	c.(1573-1575)Gac>Cac	p.D525H	ACTR8_ENST00000482349.1_Missense_Mutation_p.D414H|ACTR8_ENST00000231909.7_Missense_Mutation_p.D230H|ACTR8_ENST00000488802.1_5'UTR	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	525					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.D525H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TTGGTGTCGTCAGATGCTGAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											163	142	149					3																	53904167		2203	4300	6503	53879207	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1573G>C	3.37:g.53904167C>G	ENSP00000336842:p.Asp525His		53879207	B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396441	0.83011	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	D;D;D	0.94280	-3.39;-3.39;-3.39	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	D	0.97268	0.9909	10	0.72032	D	0.01	-12.8458	17.2355	0.86997	0.0:1.0:0.0:0.0	.	525;230	Q9H981;Q9H981-3	ARP8_HUMAN;.	H	525;414;230	ENSP00000336842:D525H;ENSP00000419429:D414H;ENSP00000231909:D230H	ENSP00000231909:D230H	D	-	1	0	ACTR8	53879207	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.464000	0.80887	2.574000	0.86865	0.655000	0.94253	GAC		0.438	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		G	53904167	C	G	53904167	3	3	188	1	0	0	0	0	1	0	0	0	217	826	29	3	309	3	ACTR8	3	53904167	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	1499995	53904167	144118263	22	10678											
PDE12	201626	hgsc.bcm.edu	37	3	57542507	57542507	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr3:57542507A>T	ENST00000311180.8	+	1	504	c.401A>T	c.(400-402)gAg>gTg	p.E134V	PDE12_ENST00000487257.1_Missense_Mutation_p.E134V	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	134					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.E134V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCAGTGGCTGAGGACGTGCTC	0.647																																					Colon(125;308 1634 19198 50622 50717)											1	Substitution - Missense(1)	ovary(1)	3											39	40	40					3																	57542507		2203	4300	6503	57517547	SO:0001583	missense	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.401A>T	3.37:g.57542507A>T	ENSP00000309142:p.Glu134Val		57517547	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943972	0.53079	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.25912	1.77;1.81	5.61	4.45	0.53987	.	0.316938	0.37577	N	0.002028	T	0.20577	0.0495	L	0.41824	1.3	0.54753	D	0.999985	B;B	0.31209	0.172;0.313	B;B	0.26202	0.03;0.067	T	0.02781	-1.1111	10	0.49607	T	0.09	-16.2501	11.1325	0.48356	0.927:0.0:0.073:0.0	.	134;134	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	V	134	ENSP00000420626:E134V;ENSP00000309142:E134V	ENSP00000309142:E134V	E	+	2	0	PDE12	57517547	1.000000	0.71417	0.577000	0.28562	0.989000	0.77384	8.056000	0.89455	0.964000	0.38108	0.374000	0.22700	GAG		0.647	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		T	57542507	A	T	57542507	3	4	188	1	0	0	0	0	1	0	0	0	11632	304	11	5	403	5	PDE12	3	57542507	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	3638340	57542507	140479923	23	10679											
PDE12	201626	hgsc.bcm.edu	37	3	57542916	57542916	+	Silent	SNP	A	A	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr3:57542916A>C	ENST00000311180.8	+	1	913	c.810A>C	c.(808-810)gtA>gtC	p.V270V	PDE12_ENST00000487257.1_Silent_p.V270V	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	270					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.V270V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGTGTGTGGTAGAGGCTGGGC	0.587																																					Colon(125;308 1634 19198 50622 50717)											1	Substitution - coding silent(1)	ovary(1)	3											96	94	95					3																	57542916		2203	4300	6503	57517956	SO:0001819	synonymous_variant	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.810A>C	3.37:g.57542916A>C			57517956	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	ENST00000311180.8	37	CCDS33772.1																																																																																				0.587	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		C	57542916	A	C	57542916	2	2	188	1	0	0	0	0	0	0	0	1	11632	407	15	5		5	PDE12	3	57542916	Silent	SNP	A	TCGA-23-1120-01A-02W-0484-10	409	57542916	140479514	24	10680											
MYH15	22989	hgsc.bcm.edu	37	3	108124275	108124275	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr3:108124275T>A	ENST00000273353.3	-	34	4762	c.4706A>T	c.(4705-4707)aAg>aTg	p.K1569M		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1569						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1569M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATGAAGAATCTTGCTTTCATT	0.318																																																1	Substitution - Missense(1)	ovary(1)	3											62	59	60					3																	108124275		1813	4069	5882	109606965	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4706A>T	3.37:g.108124275T>A	ENSP00000273353:p.Lys1569Met		109606965		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199582	0.58126	.	.	ENSG00000144821	ENST00000273353	D	0.82526	-1.62	5.13	5.13	0.70059	Myosin tail (1);	.	.	.	.	D	0.92678	0.7673	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94266	0.7506	9	0.87932	D	0	.	15.1071	0.72329	0.0:0.0:0.0:1.0	.	1569	Q9Y2K3	MYH15_HUMAN	M	1569	ENSP00000273353:K1569M	ENSP00000273353:K1569M	K	-	2	0	MYH15	109606965	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	4.058000	0.57463	2.150000	0.67090	0.533000	0.62120	AAG		0.318	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		A	108124275	T	A	108124275	3	1	188	1	0	0	0	0	1	0	0	0	10034	1609	56	5	1170	5	MYH15	3	108124275	Missense_Mutation	SNP	T	TCGA-23-1120-01A-02W-0484-10	50581359	108124275	89898155	25	10681											
STXBP5L	9515	hgsc.bcm.edu	37	3	120628437	120628437	+	Silent	SNP	T	T	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr3:120628437T>C	ENST00000273666.6	+	2	283	c.12T>C	c.(10-12)ttT>ttC	p.F4F	STXBP5L_ENST00000471454.1_Silent_p.F4F|STXBP5L_ENST00000497029.1_Silent_p.F4F|STXBP5L_ENST00000472879.1_Silent_p.F4F|STXBP5L_ENST00000492541.1_Silent_p.F4F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	4					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F4F(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGAAGAAGTTTAATTTCCGAA	0.438																																																1	Substitution - coding silent(1)	ovary(1)	3											46	48	47					3																	120628437		1872	4106	5978	122111127	SO:0001819	synonymous_variant	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.12T>C	3.37:g.120628437T>C			122111127	Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	CCDS43137.1																																																																																				0.438	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			C	120628437	T	C	120628437	2	2	188	1	0	0	0	0	0	0	0	1	15359	1751	61	4		4	STXBP5L	3	120628437	Silent	SNP	T	TCGA-23-1120-01A-02W-0484-10	12504162	120628437	77393993	26	10682											
ZNF148	7707	hgsc.bcm.edu	37	3	124952176	124952176	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr3:124952176T>A	ENST00000360647.4	-	9	1879	c.1394A>T	c.(1393-1395)gAt>gTt	p.D465V	ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.D465V|ZNF148_ENST00000485866.1_Missense_Mutation_p.D465V|ZNF148_ENST00000492394.1_Missense_Mutation_p.D465V|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	465					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D465V(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CATGGCATCATCATAATTAGT	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											112	113	113					3																	124952176		2203	4300	6503	126434866	SO:0001583	missense	7707			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1394A>T	3.37:g.124952176T>A	ENSP00000353863:p.Asp465Val		126434866	D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910349	0.72983	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.49	5.49	0.81192	.	0.043864	0.85682	D	0.000000	T	0.71484	0.3345	M	0.65975	2.015	0.80722	D	1	D	0.54601	0.967	P	0.52909	0.713	T	0.75744	-0.3210	10	0.87932	D	0	-16.2112	15.7623	0.78096	0.0:0.0:0.0:1.0	.	465	Q9UQR1	ZN148_HUMAN	V	465	ENSP00000353863:D465V;ENSP00000420335:D465V;ENSP00000419322:D465V;ENSP00000420448:D465V	ENSP00000353863:D465V	D	-	2	0	ZNF148	126434866	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	6.127000	0.71642	2.311000	0.77944	0.533000	0.62120	GAT		0.443	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		A	124952176	T	A	124952176	3	1	188	1	0	0	0	0	1	0	0	0	17734	1435	50	5	994	5	ZNF148	3	124952176	Missense_Mutation	SNP	T	TCGA-23-1120-01A-02W-0484-10	4323739	124952176	73070254	27	10683											
LIMCH1	22998	hgsc.bcm.edu	37	4	41686515	41686515	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr4:41686515C>G	ENST00000313860.7	+	22	2849	c.2795C>G	c.(2794-2796)aCa>aGa	p.T932R	LIMCH1_ENST00000381753.4_Missense_Mutation_p.T765R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.T777R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.T931R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.T855R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.T765R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.T772R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.T785R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.T772R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.T1316R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.T944R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.T932R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	932					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.T932R(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACTGTGGAACAAACCCACAG	0.483																																																1	Substitution - Missense(1)	ovary(1)	4											49	46	47					4																	41686515		2203	4300	6503	41381272	SO:0001583	missense	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2795C>G	4.37:g.41686515C>G	ENSP00000316891:p.Thr932Arg		41381272	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.921|6.921	0.539573|0.539573	0.13250|0.13250	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.45276	.|0.9;1.5;1.5;1.51;0.91;1.47;0.9;0.92;0.91;0.91;0.91;0.91	5.37|5.37	0.45|0.45	0.16624|0.16624	.|.	.|1.596950	.|0.02786	.|N	.|0.121516	T|T	0.43897|0.43897	0.1268|0.1268	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;P;B;B;B;B;B	.|0.52170	.|0.201;0.047;0.134;0.006;0.21;0.127;0.951;0.127;0.404;0.134;0.21;0.351	.|B;B;B;B;B;B;P;B;B;B;B;B	.|0.53809	.|0.04;0.078;0.115;0.012;0.165;0.081;0.735;0.162;0.249;0.126;0.249;0.265	T|T	0.33752|0.33752	-0.9856|-0.9856	5|10	.|0.21540	.|T	.|0.41	0.0123|0.0123	7.4946|7.4946	0.27481|0.27481	0.0:0.3077:0.0:0.6923|0.0:0.3077:0.0:0.6923	.|.	.|772;682;765;855;765;777;1316;785;944;931;932;932	.|E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	E|R	766|785;931;932;932;855;944;1316;772;1315;772;765;777;765;284	.|ENSP00000425222:T785R;ENSP00000424825:T931R;ENSP00000424645:T932R;ENSP00000316891:T932R;ENSP00000427045:T855R;ENSP00000424437:T944R;ENSP00000425631:T1316R;ENSP00000421242:T772R;ENSP00000426334:T772R;ENSP00000422864:T765R;ENSP00000379840:T777R;ENSP00000371172:T765R	.|ENSP00000316891:T932R	Q|T	+|+	1|2	0|0	LIMCH1|LIMCH1	41381272|41381272	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.079000|-0.079000	0.11357|0.11357	-0.048000|-0.048000	0.13401|0.13401	-0.251000|-0.251000	0.11542|0.11542	CAA|ACA		0.483	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		G	41686515	C	G	41686515	3	3	188	1	0	0	0	0	1	0	0	0	8797	478	17	3	2909	3	LIMCH1	4	41686515	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10		41686515	149467761	28	10684											
KIT	3815	hgsc.bcm.edu	37	4	55524245	55524245	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr4:55524245A>G	ENST00000288135.5	+	1	161	c.64A>G	c.(64-66)Aca>Gca	p.T22A		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	22					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T22A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCGCGTCCAGACAGGTGGGAC	0.667		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	1	Substitution - Missense(1)	ovary(1)	4											45	46	45					4																	55524245		2203	4300	6503	55219002	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.64A>G	4.37:g.55524245A>G	ENSP00000288135:p.Thr22Ala		55219002	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	4.599	0.111251	0.08831	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.76316	-1.01;-1.01	3.46	2.2	0.27929	Immunoglobulin-like fold (1);	0.245550	0.28343	N	0.015700	T	0.57562	0.2062	N	0.19112	0.55	0.47341	D	0.999396	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.38908	-0.9639	10	0.19590	T	0.45	.	6.6161	0.22778	0.7542:0.2458:0.0:0.0	.	22;22	P10721-2;P10721	.;KIT_HUMAN	A	22	ENSP00000288135:T22A;ENSP00000390987:T22A	ENSP00000288135:T22A	T	+	1	0	KIT	55219002	1.000000	0.71417	0.998000	0.56505	0.106000	0.19336	1.802000	0.38853	0.468000	0.27243	0.260000	0.18958	ACA		0.667	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			G	55524245	A	G	55524245	3	3	188	1	0	0	0	0	1	0	0	0	8329	275	10	4	66	4	KIT	4	55524245	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	13837730	55524245	135630031	29	10685											
KIAA1109	84162	hgsc.bcm.edu	37	4	123117898	123117898	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr4:123117898G>A	ENST00000264501.4	+	12	1534	c.1161G>A	c.(1159-1161)atG>atA	p.M387I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.M387I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M387I			Q2LD37	K1109_HUMAN	KIAA1109	387					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.M387I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATTACGAATGAATATTATTG	0.303																																																1	Substitution - Missense(1)	ovary(1)	4											114	107	109					4																	123117898		1803	4066	5869	123337348	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1161G>A	4.37:g.123117898G>A	ENSP00000264501:p.Met387Ile		123337348	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.94|19.94	3.919611|3.919611	0.73098|0.73098	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.19669	.|2.72;2.72;2.13	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|3.263340	.|0.01230	.|N	.|0.008336	T|T	0.36580|0.36580	0.0972|0.0972	N|N	0.20530|0.20530	0.585|0.585	0.80722|0.80722	D|D	1|1	.|P	.|0.50528	.|0.936	.|P	.|0.61201	.|0.885	T|T	0.47433|0.47433	-0.9118|-0.9118	5|10	.|0.11794	.|T	.|0.64	.|.	19.7617|19.7617	0.96321|0.96321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|387	.|Q2LD37	.|K1109_HUMAN	K|I	220|387	.|ENSP00000264501:M387I;ENSP00000373390:M387I;ENSP00000389925:M387I	.|ENSP00000264501:M387I	E|M	+|+	1|3	0|0	KIAA1109|KIAA1109	123337348|123337348	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.753000|9.753000	0.98904|0.98904	2.671000|2.671000	0.90904|0.90904	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.303	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123117898	G	A	123117898	3	1	188	1	0	0	0	0	1	0	0	0	8208	1290	45	2	1199	2	KIAA1109	4	123117898	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10	67593653	123117898	68036378	30	10686											
FYB	2533	hgsc.bcm.edu	37	5	39202368	39202368	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr5:39202368C>G	ENST00000351578.6	-	2	885	c.695G>C	c.(694-696)aGg>aCg	p.R232T	FYB_ENST00000515010.1_Missense_Mutation_p.R232T|FYB_ENST00000540520.1_Missense_Mutation_p.R242T|FYB_ENST00000512982.1_Missense_Mutation_p.R232T|FYB_ENST00000505428.1_Missense_Mutation_p.R232T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	232					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.R232T(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTTTGGACCTGACTCCCAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	5											78	78	78					5																	39202368		1837	4081	5918	39238125	SO:0001583	missense	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.695G>C	5.37:g.39202368C>G	ENSP00000316460:p.Arg232Thr		39238125	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	6.971	0.549092	0.13312	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	6.07	2.36	0.29203	.	0.863259	0.10719	N	0.642006	T	0.14743	0.0356	N	0.14661	0.345	0.09310	N	1	B;B	0.28128	0.201;0.201	B;B	0.27608	0.037;0.081	T	0.32561	-0.9902	10	0.25751	T	0.34	-2.9495	8.9822	0.35972	0.0:0.3638:0.0:0.6362	.	242;232	B4DLN2;O15117	.;FYB_HUMAN	T	232;232;232;232;242;232	ENSP00000316460:R232T;ENSP00000426346:R232T;ENSP00000425845:R232T;ENSP00000427114:R232T;ENSP00000442840:R242T	ENSP00000316460:R232T	R	-	2	0	FYB	39238125	0.819000	0.29175	0.018000	0.16275	0.201000	0.24016	0.986000	0.29590	0.175000	0.19841	0.655000	0.94253	AGG		0.507	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		G	39202368	C	G	39202368	3	3	188	1	0	0	0	0	1	0	0	0	6124	681	24	3	1866	3	FYB	5	39202368	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10		39202368	141712892	31	10687											
TXNDC15	79770	hgsc.bcm.edu	37	5	134210206	134210206	+	Frame_Shift_Del	DEL	T	T	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr5:134210206delT	ENST00000358387.4	+	1	714	c.89delT	c.(88-90)gtcfs	p.V30fs	TXNDC15_ENST00000546290.1_5'Flank	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	30					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.V30fs*63(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACTTCCCGTCCGCGGCGTG	0.716																																																1	Deletion - Frameshift(1)	ovary(1)	5											54	60	58					5																	134210206		2202	4298	6500	134238105	SO:0001589	frameshift_variant	79770			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 14"	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.89delT	5.37:g.134210206delT	ENSP00000351157:p.Val30fs		134238105	D3DQA9|Q96MT2|Q9H639	Frame_Shift_Del	DEL	ENST00000358387.4	37	CCDS4180.1																																																																																				0.716	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		-	134210206	T	-	134210206	7	5	188	1	0	1	0	1	0	0	0	0	16794	1667	58	0	91	0	TXNDC15	5	134210206	Frame_Shift_Del	DEL	T	TCGA-23-1120-01A-02W-0484-10	95007838	134210206	46705054	32	10688											
PCDHGB4	8641	hgsc.bcm.edu	37	5	140768013	140768013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr5:140768013delG	ENST00000519479.1	+	1	562	c.562delG	c.(562-564)ggcfs	p.G188fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G188C(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATCAGATGGCAGTAAATA	0.438																																																1	Substitution - Missense(1)	lung(1)	5											65	66	65					5																	140768013		1915	4125	6040	140748197	SO:0001589	frameshift_variant	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.562delG	5.37:g.140768013delG	ENSP00000428288:p.Gly188fs		140748197	O15099|Q2M267|Q9UN64	Frame_Shift_Del	DEL	ENST00000519479.1	37	CCDS54928.1																																																																																				0.438	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		-	140768013	G	-	140768013	7	5	188	1	0	1	0	1	0	0	0	0	11565	1348	47	0	564	0	PCDHGB4	5	140768013	Frame_Shift_Del	DEL	G	TCGA-23-1120-01A-02W-0484-10	6557807	140768013	40147247	33	10689											
PCDH12	51294	hgsc.bcm.edu	37	5	141337140	141337140	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr5:141337140C>G	ENST00000231484.3	-	1	1487	c.277G>C	c.(277-279)Gat>Cat	p.D93H	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	93	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D93H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTCGATCCAGCCGCCTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	5											52	55	54					5																	141337140		2203	4300	6503	141317324	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.277G>C	5.37:g.141337140C>G	ENSP00000231484:p.Asp93His		141317324	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668742	0.88348	.	.	ENSG00000113555	ENST00000231484	T	0.53640	0.61	4.81	4.81	0.61882	Cadherin, N-terminal (1);Cadherin (4);	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	H	0.94620	3.56	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.83896	0.0287	10	0.87932	D	0	.	15.4202	0.75006	0.0:1.0:0.0:0.0	.	93	Q9NPG4	PCD12_HUMAN	H	93	ENSP00000231484:D93H	ENSP00000231484:D93H	D	-	1	0	PCDH12	141317324	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.905000	0.69893	2.504000	0.84457	0.563000	0.77884	GAT		0.602	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		G	141337140	C	G	141337140	3	3	188	1	0	0	0	0	1	0	0	0	11510	855	30	3	3293	3	PCDH12	5	141337140	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	569127	141337140	39578120	34	10690											
SH3TC2	79628	hgsc.bcm.edu	37	5	148384447	148384447	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr5:148384447C>T	ENST00000515425.1	-	17	3795	c.3694G>A	c.(3694-3696)Gag>Aag	p.E1232K	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E1225K|SH3TC2_ENST00000502274.1_Missense_Mutation_p.E94K|SH3TC2_ENST00000538184.1_3'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1232					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.E1232K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAGTACTCAGTGGCATCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	5											66	65	65					5																	148384447		2203	4300	6503	148364640	SO:0001583	missense	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3694G>A	5.37:g.148384447C>T	ENSP00000423660:p.Glu1232Lys		148364640	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293143	0.60086	.	.	ENSG00000169247	ENST00000502274;ENST00000515425;ENST00000512049	T;T;T	0.75704	0.13;-0.92;-0.96	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);	0.280362	0.37623	N	0.002010	T	0.57519	0.2059	N	0.22421	0.69	0.80722	D	1	B;B	0.20887	0.049;0.049	B;B	0.18561	0.022;0.022	T	0.53514	-0.8428	10	0.29301	T	0.29	-11.2722	7.3563	0.26721	0.1421:0.7233:0.0:0.1346	.	1225;1232	Q14CC0;Q8TF17	.;S3TC2_HUMAN	K	94;1232;1225	ENSP00000421092:E94K;ENSP00000423660:E1232K;ENSP00000421860:E1225K	ENSP00000421092:E94K	E	-	1	0	SH3TC2	148364640	0.995000	0.38212	0.971000	0.41717	0.983000	0.72400	3.705000	0.54823	2.873000	0.98535	0.561000	0.74099	GAG		0.582	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		T	148384447	C	T	148384447	3	4	188	1	0	0	0	0	1	0	0	0	14265	835	29	2	176	2	SH3TC2	5	148384447	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	7047307	148384447	32530813	35	10691											
ABCF1	23	hgsc.bcm.edu	37	6	30558467	30558467	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr6:30558467C>T	ENST00000326195.8	+	25	2639	c.2527C>T	c.(2527-2529)Ccc>Tcc	p.P843S	ABCF1_ENST00000396515.4_Missense_Mutation_p.P236S|ABCF1_ENST00000376545.3_Missense_Mutation_p.P805S	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	843					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.P843S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GGTCAGCCGGCCCCGAGAGTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	6											118	133	128					6																	30558467		1511	2708	4219	30666446	SO:0001583	missense	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2527C>T	6.37:g.30558467C>T	ENSP00000313603:p.Pro843Ser		30666446	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	c	16.58	3.164245	0.57476	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000396515	D;D;T	0.90385	-2.51;-2.66;-1.32	5.39	5.39	0.77823	.	0.245105	0.40554	N	0.001079	D	0.86863	0.6035	L	0.44542	1.39	0.38752	D	0.954125	P;P;P	0.47762	0.9;0.759;0.9	B;B;P	0.46452	0.415;0.379;0.517	D	0.88761	0.3257	10	0.59425	D	0.04	-16.0273	16.0942	0.81110	0.0:1.0:0.0:0.0	.	236;805;843	Q5STZ7;Q2L6I2;Q8NE71	.;.;ABCF1_HUMAN	S	843;805;531;236	ENSP00000313603:P843S;ENSP00000365728:P805S;ENSP00000379772:P236S	ENSP00000313603:P843S	P	+	1	0	ABCF1	30666446	0.940000	0.31905	0.980000	0.43619	0.956000	0.61745	2.583000	0.46094	2.548000	0.85928	0.580000	0.79431	CCC		0.567	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			T	30558467	C	T	30558467	3	4	188	1	0	0	0	0	1	0	0	0	65	739	26	2	2625	2	ABCF1	6	30558467	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10		30558467	140556600	36	10692											
SKIV2L	6499	hgsc.bcm.edu	37	6	31930761	31930761	+	Splice_Site	SNP	G	G	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr6:31930761G>A	ENST00000375394.2	+	13	1409		c.e13-1		SKIV2L_ENST00000544581.1_Splice_Site	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)						ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.?(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCTGTGCCCAGCGTGGGGTCG	0.567																																																1	Unknown(1)	ovary(1)	6											72	62	65					6																	31930761		1510	2709	4219	32038740	SO:0001630	splice_region_variant	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1297-1G>A	6.37:g.31930761G>A			32038740	O15005|Q12902|Q15476|Q5ST66	Splice_Site	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349209	0.82132	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2295	0.86981	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKIV2L	32038740	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.646000	0.67916	2.612000	0.88384	0.655000	0.94253	.		0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3		Intron	A	31930761	G	A	31930761	5	1	188	1	0	0	0	0	0	0	1	0	14362	985	34	2	1346	2	SKIV2L	6	31930761	Splice_Site	SNP	G	TCGA-23-1120-01A-02W-0484-10	1372294	31930761	139184306	37	10693											
ME1	4199	hgsc.bcm.edu	37	6	84140610	84140610	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr6:84140610G>T	ENST00000369705.3	-	1	180	c.64C>A	c.(64-66)Cct>Act	p.P22T	ME1_ENST00000543031.1_5'UTR|ME1_ENST00000541327.1_5'UTR	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	22					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.P22T(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TTGAGGTGAGGGTTCCGTGTC	0.716																																																1	Substitution - Missense(1)	ovary(1)	6											48	41	43					6																	84140610		2202	4299	6501	84197329	SO:0001583	missense	4199			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.64C>A	6.37:g.84140610G>T	ENSP00000358719:p.Pro22Thr		84197329	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144966	0.37825	.	.	ENSG00000065833	ENST00000369705	T	0.29142	1.58	2.54	2.54	0.30619	.	0.394081	0.24793	N	0.035548	T	0.33147	0.0853	M	0.92367	3.3	0.80722	D	1	P	0.43633	0.813	B	0.44224	0.444	T	0.43766	-0.9371	10	0.87932	D	0	-6.5626	8.5929	0.33699	0.0:0.0:1.0:0.0	.	22	P48163	MAOX_HUMAN	T	22	ENSP00000358719:P22T	ENSP00000358719:P22T	P	-	1	0	ME1	84197329	0.991000	0.36638	0.966000	0.40874	0.644000	0.38419	1.672000	0.37523	1.422000	0.47177	0.313000	0.20887	CCT		0.716	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			T	84140610	G	T	84140610	3	4	188	1	0	0	0	0	1	0	0	0	9417	1232	43	3	1710	3	ME1	6	84140610	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10	52209849	84140610	86974457	38	10694											
SYNE1	23345	hgsc.bcm.edu	37	6	152469323	152469324	+	Frame_Shift_Ins	INS	-	-	T	rs200663180		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr6:152469323_152469324insT	ENST00000367255.5	-	137	25433_25434	c.24832_24833insA	c.(24832-24834)gtgfs	p.V8278fs	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.V8207fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.V8278fs|SYNE1_ENST00000354674.4_Frame_Shift_Ins_p.V433fs|SYNE1_ENST00000539504.1_Frame_Shift_Ins_p.V433fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.V7890fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.V8207fs|SYNE1_ENST00000356820.4_Frame_Shift_Ins_p.V2802fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8278					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V8278fs*13(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGGAGTCCACACTAGCCGGG	0.609										HNSCC(10;0.0054)																																						2	Insertion - Frameshift(2)	ovary(2)	6																																								152511017	SO:0001589	frameshift_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24832_24833insA	6.37:g.152469323_152469324insT	ENSP00000356224:p.Val8278fs		152511016	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Ins	INS	ENST00000367255.5	37	CCDS5236.2																																																																																				0.609	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152469324	-	T	152469323	7	5	188	1	0	1	1	0	0	0	0	0	15445	159	6	0	1673	0	SYNE1	6	152469323	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	68328713	152469323	18645744	39	10695											
RPS6KA2	6196	hgsc.bcm.edu	37	6	166827304	166827304	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr6:166827304C>A	ENST00000265678.4	-	20	2277	c.2054G>T	c.(2053-2055)cGa>cTa	p.R685L	RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R596L|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.R710L|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R693L|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R596L	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	685					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.R685L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACGTCCTGTCGGCTGAGCTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											106	83	91					6																	166827304		2203	4300	6503	166747294	SO:0001583	missense	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.2054G>T	6.37:g.166827304C>A	ENSP00000265678:p.Arg685Leu		166747294	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796437	0.70567	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	3.99	3.99	0.46301	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.14657	0.0354	M	0.68317	2.08	0.80722	D	1	B;B;P	0.48694	0.007;0.012;0.914	B;B;B	0.27076	0.007;0.015;0.076	T	0.14035	-1.0487	10	0.10377	T	0.69	.	15.671	0.77274	0.0:1.0:0.0:0.0	.	710;693;685	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	L	685;710;693;596;596	ENSP00000265678:R685L;ENSP00000422435:R710L;ENSP00000427015:R693L;ENSP00000422484:R596L;ENSP00000386050:R596L	ENSP00000265678:R685L	R	-	2	0	RPS6KA2	166747294	1.000000	0.71417	0.991000	0.47740	0.926000	0.56050	4.132000	0.57977	2.245000	0.73994	0.478000	0.44815	CGA		0.582	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		A	166827304	C	A	166827304	3	1	188	1	0	0	0	0	1	0	0	0	13654	884	31	3	155	3	RPS6KA2	6	166827304	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	14357981	166827304	4287763	40	10696											
SCRN1	9805	hgsc.bcm.edu	37	7	29983757	29983757	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr7:29983757A>G	ENST00000426154.1	-	4	556	c.380T>C	c.(379-381)tTa>tCa	p.L127S	SCRN1_ENST00000409497.1_Missense_Mutation_p.L127S|SCRN1_ENST00000434476.2_Missense_Mutation_p.L147S|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000416113.2_Missense_Mutation_p.L18S|SCRN1_ENST00000242059.5_Missense_Mutation_p.L127S|SCRN1_ENST00000425819.2_Missense_Mutation_p.L59S	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	127					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)	p.L127S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						AATGACATCTAAGGCTTCTTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	7											119	106	110					7																	29983757		2203	4300	6503	29950282	SO:0001583	missense	9805			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.380T>C	7.37:g.29983757A>G	ENSP00000409068:p.Leu127Ser		29950282	A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681491	0.88542	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434;ENST00000438497	T;T;T;T;T;T;T;T	0.37411	1.9;1.9;1.9;1.9;2.46;1.9;1.9;1.2	5.93	5.93	0.95920	.	0.107748	0.40469	N	0.001086	T	0.68238	0.2979	M	0.92169	3.28	0.40575	D	0.981334	D;D;D	0.59767	0.978;0.971;0.986	D;P;D	0.69142	0.962;0.857;0.962	T	0.77435	-0.2589	9	.	.	.	-9.5276	15.2069	0.73186	1.0:0.0:0.0:0.0	.	147;59;127	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	S	127;127;59;127;18;147;127;127	ENSP00000242059:L127S;ENSP00000409068:L127S;ENSP00000414245:L59S;ENSP00000386872:L127S;ENSP00000407460:L18S;ENSP00000388942:L147S;ENSP00000413184:L127S;ENSP00000406289:L127S	.	L	-	2	0	SCRN1	29950282	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.271000	0.75665	0.459000	0.35465	TTA		0.428	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		G	29983757	A	G	29983757	3	3	188	1	0	0	0	0	1	0	0	0	13941	372	13	4	884	4	SCRN1	7	29983757	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10		29983757	129154906	41	10697											
TBX20	57057	hgsc.bcm.edu	37	7	35242182	35242182	+	Missense_Mutation	SNP	T	T	C	rs368803336		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr7:35242182T>C	ENST00000408931.3	-	8	1730	c.1204A>G	c.(1204-1206)Att>Gtt	p.I402V		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	402					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I402V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GAGCTGGCAATGGCCGATGGT	0.562																																																1	Substitution - Missense(1)	ovary(1)	7						T	VAL/ILE	1,3993		0,1,1996	76	75	75		1204	5.7	1	7		75	0,8364		0,0,4182	no	missense	TBX20	NM_001077653.2	29	0,1,6178	CC,CT,TT		0.0,0.025,0.0081	benign	402/448	35242182	1,12357	1997	4182	6179	35208707	SO:0001583	missense	57057			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1204A>G	7.37:g.35242182T>C	ENSP00000386170:p.Ile402Val		35208707	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086745	0.36855	2.5E-4	0.0	ENSG00000164532	ENST00000408931	D	0.87334	-2.24	5.66	5.66	0.87406	.	.	.	.	.	T	0.73273	0.3566	N	0.08118	0	0.37795	D	0.927494	B	0.10296	0.003	B	0.14023	0.01	T	0.69975	-0.4999	9	0.15499	T	0.54	.	11.8301	0.52290	0.0:0.0:0.1462:0.8538	.	402	Q9UMR3	TBX20_HUMAN	V	402	ENSP00000386170:I402V	ENSP00000386170:I402V	I	-	1	0	TBX20	35208707	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.127000	0.64727	2.144000	0.66660	0.496000	0.49642	ATT		0.562	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		C	35242182	T	C	35242182	3	2	188	1	0	0	0	0	1	0	0	0	15656	1464	51	4	142	4	TBX20	7	35242182	Missense_Mutation	SNP	T	TCGA-23-1120-01A-02W-0484-10	5258425	35242182	123896481	42	10698											
PKD1L1	168507	hgsc.bcm.edu	37	7	47904851	47904851	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr7:47904851A>G	ENST00000289672.2	-	26	4162	c.4112T>C	c.(4111-4113)gTt>gCt	p.V1371A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1371	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V1371A(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAACATAAGAACAGAACCAAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	7											55	51	52					7																	47904851		2203	4300	6503	47871376	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4112T>C	7.37:g.47904851A>G	ENSP00000289672:p.Val1371Ala		47871376	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596189	0.46318	.	.	ENSG00000158683	ENST00000289672	T	0.31769	1.48	5.21	5.21	0.72293	Egg jelly receptor, REJ-like (1);	0.182824	0.34700	N	0.003759	T	0.43567	0.1253	L	0.56769	1.78	0.09310	N	1	D	0.67145	0.996	P	0.60541	0.876	T	0.35076	-0.9803	10	0.11485	T	0.65	-18.2141	13.0122	0.58737	1.0:0.0:0.0:0.0	.	1371	Q8TDX9	PK1L1_HUMAN	A	1371	ENSP00000289672:V1371A	ENSP00000289672:V1371A	V	-	2	0	PKD1L1	47871376	0.009000	0.17119	0.025000	0.17156	0.362000	0.29581	2.584000	0.46102	1.946000	0.56461	0.528000	0.53228	GTT		0.348	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		G	47904851	A	G	47904851	3	3	188	1	0	0	0	0	1	0	0	0	11964	43	2	4	4565	4	PKD1L1	7	47904851	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	12662669	47904851	111233812	43	10699											
PTPN12	5782	hgsc.bcm.edu	37	7	77268030	77268030	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr7:77268030A>G	ENST00000248594.6	+	17	2535	c.2263A>G	c.(2263-2265)Aca>Gca	p.T755A	PTPN12_ENST00000435495.2_Missense_Mutation_p.T625A|PTPN12_ENST00000415482.2_Missense_Mutation_p.T636A	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	755					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.T755A(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGAAAATCCAACAGAAGCCAC	0.353																																																1	Substitution - Missense(1)	ovary(1)	7											83	87	85					7																	77268030		2203	4300	6503	77105966	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.2263A>G	7.37:g.77268030A>G	ENSP00000248594:p.Thr755Ala		77105966	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	A	2.484	-0.319021	0.05386	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000435495	T;T;T	0.06068	3.93;3.35;3.35	5.46	-6.97	0.01616	.	0.822405	0.10716	N	0.642304	T	0.02848	0.0085	N	0.15975	0.35	0.19945	N	0.999947	B	0.02656	0.0	B	0.01281	0.0	T	0.42327	-0.9458	10	0.38643	T	0.18	.	5.9629	0.19308	0.2943:0.0:0.371:0.3347	.	755	Q05209	PTN12_HUMAN	A	755;636;625	ENSP00000248594:T755A;ENSP00000392429:T636A;ENSP00000397991:T625A	ENSP00000248594:T755A	T	+	1	0	PTPN12	77105966	0.013000	0.17824	0.868000	0.34077	0.132000	0.20833	-0.119000	0.10676	-0.768000	0.04626	-1.303000	0.01326	ACA		0.353	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			G	77268030	A	G	77268030	3	3	188	1	0	0	0	0	1	0	0	0	12784	43	2	4	2329	4	PTPN12	7	77268030	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	29363179	77268030	81870633	44	10700											
MUC17	140453	hgsc.bcm.edu	37	7	100696301	100696301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr7:100696301G>T	ENST00000306151.4	+	10	13202	c.13138G>T	c.(13138-13140)Gag>Tag	p.E4380*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4380					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.E4380*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTACAGTGGGGAGACCTGTAA	0.602																																																1	Substitution - Nonsense(1)	ovary(1)	7											88	79	82					7																	100696301		2203	4300	6503	100483021	SO:0001587	stop_gained	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13138G>T	7.37:g.100696301G>T	ENSP00000302716:p.Glu4380*		100483021	O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	54	22.421701	0.99948	.	.	ENSG00000169876	ENST00000306151	.	.	.	5.52	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	10.7946	0.46453	0.0:0.0:0.8111:0.1889	.	.	.	.	X	4380	.	ENSP00000302716:E4380X	E	+	1	0	MUC17	100483021	0.159000	0.22864	0.310000	0.25168	0.038000	0.13279	1.695000	0.37763	2.595000	0.87683	0.650000	0.86243	GAG		0.602	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100696301	G	T	100696301	4	4	188	1	0	0	0	0	0	1	0	0	9974	1175	41	3	13176	3	MUC17	7	100696301	Nonsense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10	23428271	100696301	58442362	45	10701											
CHRNA2	1135	hgsc.bcm.edu	37	8	27327474	27327475	+	Frame_Shift_Ins	INS	-	-	GGGTGGA			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr8:27327474_27327475insGGGTGGA	ENST00000520933.2	-	2	250_251	c.97_98insTCCACCC	c.(97-99)cctfs	p.-32fs	CHRNA2_ENST00000240132.2_Frame_Shift_Ins_p.-32fs|CHRNA2_ENST00000407991.1_Frame_Shift_Ins_p.-32fs			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.P33fs*29(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	AGCCCTGGGAGGTGGGCGCTTA	0.574																																																1	Insertion - Frameshift(1)	ovary(1)	8																																								27383392	SO:0001589	frameshift_variant	1135			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.97_98insTCCACCC	8.37:g.27327474_27327475insGGGTGGA	ENSP00000429616:p.Pro32fs		27383391	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Frame_Shift_Ins	INS	ENST00000520933.2	37	CCDS6059.1																																																																																				0.574	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			GGGTGGA	27327475	-	GGGTGGA	27327474	7	5	188	1	0	1	1	0	0	0	0	0	3383	1000	35	0	1511	0	CHRNA2	8	27327474	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10		27327474	119036548	46	10702											
ASPH	444	hgsc.bcm.edu	37	8	62550514	62550514	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr8:62550514A>G	ENST00000379454.4	-	12	1068	c.881T>C	c.(880-882)aTt>aCt	p.I294T	ASPH_ENST00000522835.1_Missense_Mutation_p.I237T|ASPH_ENST00000541428.1_Missense_Mutation_p.I265T|ASPH_ENST00000522919.1_Missense_Mutation_p.I107T|ASPH_ENST00000517847.2_Missense_Mutation_p.I280T|ASPH_ENST00000445642.3_Missense_Mutation_p.I280T|ASPH_ENST00000518068.1_Missense_Mutation_p.I251T|ASPH_ENST00000356457.5_Missense_Mutation_p.I294T|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000517903.1_Missense_Mutation_p.I279T	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	294	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.I294T(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ACCTTCTACAATTACCTGTGA	0.343																																																1	Substitution - Missense(1)	ovary(1)	8											51	50	50					8																	62550514		2203	4300	6503	62713068	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.881T>C	8.37:g.62550514A>G	ENSP00000368767:p.Ile294Thr		62713068	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	A	8.531	0.871111	0.17322	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	3.82	2.67	0.31697	Aspartyl beta-hydroxylase/Triadin domain (1);	0.635376	0.14174	N	0.336533	T	0.61413	0.2345	L	0.55481	1.735	0.09310	N	1	P;D;D;D;B;P;D;B;D;B	0.67145	0.936;0.994;0.976;0.976;0.187;0.921;0.996;0.017;0.989;0.27	P;D;D;P;B;P;D;B;D;B	0.67725	0.63;0.947;0.95;0.872;0.08;0.497;0.953;0.018;0.953;0.089	T	0.47522	-0.9111	10	0.59425	D	0.04	-4.5662	5.9268	0.19116	0.8827:0.0:0.1173:0.0	.	275;237;279;260;265;275;251;294;280;294	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	T	275;265;294;107;294;308;251;279;280;280;237	ENSP00000437864:I265T;ENSP00000368767:I294T;ENSP00000430516:I107T;ENSP00000348841:I294T;ENSP00000427823:I308T;ENSP00000429286:I251T;ENSP00000430245:I279T;ENSP00000394013:I280T;ENSP00000429954:I280T;ENSP00000429160:I237T	ENSP00000348841:I294T	I	-	2	0	ASPH	62713068	0.345000	0.24835	0.001000	0.08648	0.003000	0.03518	1.682000	0.37628	0.832000	0.34804	-0.256000	0.11100	ATT		0.343	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		G	62550514	A	G	62550514	3	3	188	1	0	0	0	0	1	0	0	0	1053	101	4	4	1463	4	ASPH	8	62550514	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	35223040	62550514	83813508	47	10703											
NSMCE2	286053	hgsc.bcm.edu	37	8	126369996	126369996	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr8:126369996A>T	ENST00000287437.3	+	7	778	c.562A>T	c.(562-564)Acc>Tcc	p.T188S	NSMCE2_ENST00000522563.1_Missense_Mutation_p.T188S|NSMCE2_ENST00000517315.1_Missense_Mutation_p.T128S	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	188					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.T188S(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GTGTGGCCACACCTATGAAGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	8											115	97	103					8																	126369996		2203	4300	6503	126439178	SO:0001583	missense	286053			AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"Zinc fingers, MIZ-type"	26513	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 7"		"chromosome 8 open reading frame 36", "non-SMC element 2 homolog (MMS21, S. cerevisiae)"	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.562A>T	8.37:g.126369996A>T	ENSP00000287437:p.Thr188Ser		126439178	Q8N549	Missense_Mutation	SNP	ENST00000287437.3	37	CCDS6356.1	.	.	.	.	.	.	.	.	.	.	A	9.684	1.150059	0.21371	.	.	ENSG00000156831	ENST00000517532;ENST00000287437;ENST00000522563;ENST00000517315	T;T;T;T	0.48201	0.82;0.86;0.86;0.85	5.43	4.19	0.49359	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (1);	0.267790	0.37809	N	0.001936	T	0.33381	0.0861	L	0.33668	1.02	0.27827	N	0.941572	P	0.34934	0.476	B	0.34873	0.191	T	0.15925	-1.0420	10	0.21540	T	0.41	.	9.8299	0.40934	0.7494:0.0:0.0:0.2506	.	188	Q96MF7	NSE2_HUMAN	S	188;188;188;128	ENSP00000429612:T188S;ENSP00000287437:T188S;ENSP00000430668:T188S;ENSP00000428846:T128S	ENSP00000287437:T188S	T	+	1	0	NSMCE2	126439178	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.108000	0.31123	2.190000	0.69967	0.397000	0.26171	ACC		0.473	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		T	126369996	A	T	126369996	3	4	188	1	0	0	0	0	1	0	0	0	10676	159	6	5	580	5	NSMCE2	8	126369996	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	63819482	126369996	19994026	48	10704											
FRMPD1	22844	hgsc.bcm.edu	37	9	37745493	37745494	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr9:37745493_37745494delGT	ENST00000539465.1	+	16	4057_4058	c.3464_3465delGT	c.(3463-3465)ggtfs	p.G1155fs	FRMPD1_ENST00000377765.3_Frame_Shift_Del_p.G1155fs|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1155						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.G1155fs*24(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCTCCAGCTGGTAAAATAGTAA	0.49																																																1	Deletion - Frameshift(1)	ovary(1)	9																																								37735494	SO:0001589	frameshift_variant	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3464_3465delGT	9.37:g.37745493_37745494delGT	ENSP00000444411:p.Gly1155fs		37735493	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Frame_Shift_Del	DEL	ENST00000539465.1	37	CCDS6612.1																																																																																				0.49	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		-	37745494	GT	-	37745493	7	5	188	1	0	1	0	1	0	0	0	0	6057	1261	44	0	3522	0	FRMPD1	9	37745493	Frame_Shift_Del	DEL	GT	TCGA-23-1120-01A-02W-0484-10		37745493	103467938	49	10705											
GRIN3A	116443	hgsc.bcm.edu	37	9	104375703	104375703	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr9:104375703C>A	ENST00000361820.3	-	6	3321	c.2721G>T	c.(2719-2721)tgG>tgT	p.W907C	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	907					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.W907C(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCACCCTGTACCACTTGTCAT	0.478																																																1	Substitution - Missense(1)	ovary(1)	9											180	140	153					9																	104375703		2203	4300	6503	103415524	SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2721G>T	9.37:g.104375703C>A	ENSP00000355155:p.Trp907Cys		103415524	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362936	0.82353	.	.	ENSG00000198785	ENST00000361820	T	0.42131	0.98	5.2	5.2	0.72013	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80067	-0.1537	10	0.87932	D	0	.	19.0971	0.93257	0.0:1.0:0.0:0.0	.	907	Q8TCU5	NMD3A_HUMAN	C	907	ENSP00000355155:W907C	ENSP00000355155:W907C	W	-	3	0	GRIN3A	103415524	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.445000	0.80570	2.586000	0.87340	0.655000	0.94253	TGG		0.478	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			A	104375703	C	A	104375703	3	1	188	1	0	0	0	0	1	0	0	0	6783	508	18	3	642	3	GRIN3A	9	104375703	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	66630210	104375703	36837728	50	10706											
SVEP1	79987	hgsc.bcm.edu	37	9	113212416	113212416	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr9:113212416A>C	ENST00000401783.2	-	24	4362	c.4026T>G	c.(4024-4026)tgT>tgG	p.C1342W	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.C1319W|SVEP1_ENST00000302728.8_Missense_Mutation_p.C1342W	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1342	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.C1342W(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGTTCTTTCCACATCGGGTAC	0.458																																																1	Substitution - Missense(1)	ovary(1)	9											247	231	236					9																	113212416		1893	4113	6006	112252237	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4026T>G	9.37:g.113212416A>C	ENSP00000384917:p.Cys1342Trp		112252237	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.519637	0.44866	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.82433	-1.61;-1.61;-1.61	5.44	4.3	0.51218	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	H	0.99811	4.8	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93986	0.7262	10	0.87932	D	0	.	8.6577	0.34073	0.8525:0.0:0.1475:0.0	.	1342;1342	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	W	1342;1319;1342	ENSP00000384917:C1342W;ENSP00000363593:C1319W;ENSP00000304118:C1342W	ENSP00000304118:C1342W	C	-	3	2	SVEP1	112252237	1.000000	0.71417	0.999000	0.59377	0.477000	0.33069	2.754000	0.47532	1.007000	0.39238	-0.334000	0.08254	TGT		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113212416	A	C	113212416	3	2	188	1	0	0	0	0	1	0	0	0	15420	157	6	5	6789	5	SVEP1	9	113212416	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	8836713	113212416	28001015	51	10707											
MUSK	4593	hgsc.bcm.edu	37	9	113459743	113459743	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr9:113459743G>C	ENST00000374448.4	+	5	759	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	MUSK_ENST00000416899.2_Missense_Mutation_p.E209Q|MUSK_ENST00000374439.1_Missense_Mutation_p.E91Q|MUSK_ENST00000374440.3_Missense_Mutation_p.E91Q|MUSK_ENST00000189978.5_Missense_Mutation_p.E209Q	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	209					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E209Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCTGGAAGTTGAGGGTAAGGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	9											85	87	86					9																	113459743		1958	4147	6105	112499564	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.625G>C	9.37:g.113459743G>C	ENSP00000363571:p.Glu209Gln		112499564	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138047	0.37728	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374440;ENST00000416899;ENST00000374439	T;T;T	0.27256	1.68;1.68;1.68	5.82	5.82	0.92795	Immunoglobulin-like fold (1);	0.053263	0.85682	D	0.000000	T	0.15349	0.0370	N	0.04994	-0.135	0.50313	D	0.999864	B;B	0.24533	0.105;0.053	B;B	0.24974	0.011;0.057	T	0.15492	-1.0435	10	0.17832	T	0.49	.	18.6627	0.91477	0.0:0.0:1.0:0.0	.	209;209	O15146;F5H6T2	MUSK_HUMAN;.	Q	209;209;209;209;209;91;209;91	ENSP00000363571:E209Q;ENSP00000363563:E91Q;ENSP00000363562:E91Q	ENSP00000189978:E209Q	E	+	1	0	MUSK	112499564	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.373000	0.66162	2.740000	0.93945	0.655000	0.94253	GAG		0.512	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	113459743	G	C	113459743	3	2	188	1	0	0	0	0	1	0	0	0	9989	1291	45	3	643	3	MUSK	9	113459743	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10	247327	113459743	27753688	52	10708											
ZDHHC12	84885	hgsc.bcm.edu	37	9	131483625	131483626	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr9:131483625_131483626delTT	ENST00000372663.4	-	5	650_651	c.638_639delAA	c.(637-639)gaafs	p.E213fs	ZDHHC12_ENST00000372667.5_Frame_Shift_Del_p.E227fs|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Intron	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	213					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.E213fs*44(1)		central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						AGGAGATGAATTCCCAGGTGGT	0.634																																																1	Deletion - Frameshift(1)	ovary(1)	9																																								130523447	SO:0001589	frameshift_variant	84885			AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"Zinc fingers, DHHC-type"	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.638_639delAA	9.37:g.131483625_131483626delTT	ENSP00000361748:p.Glu213fs		130523446	A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Frame_Shift_Del	DEL	ENST00000372663.4	37	CCDS6909.1																																																																																				0.634	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054484.1	NM_032799		-	131483626	TT	-	131483625	7	5	188	1	0	1	0	1	0	0	0	0	17602	1490	52	0	168	0	ZDHHC12	9	131483625	Frame_Shift_Del	DEL	TT	TCGA-23-1120-01A-02W-0484-10	18023882	131483625	9729806	53	10709											
C9orf96	169436	hgsc.bcm.edu	37	9	136265611	136265612	+	Frame_Shift_Ins	INS	-	-	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr9:136265611_136265612insC	ENST00000371957.3	+	12	1259_1260	c.1152_1153insC	c.(1153-1155)gtcfs	p.V385fs	C9orf96_ENST00000371955.1_Frame_Shift_Ins_p.V10fs	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		385							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.V429fs*67(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGTCCTCGATGTCCAGCTGTG	0.678																																																1	Insertion - Frameshift(1)	ovary(1)	9																																								135255433	SO:0001589	frameshift_variant	169436																														Exception_encountered	9.37:g.136265611_136265612insC	ENSP00000361025:p.Val385fs		135255432	Q5T8U8|Q6ZMP6|Q6ZMQ5	Frame_Shift_Ins	INS	ENST00000371957.3	37	CCDS35169.1																																																																																				0.678	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			C	136265612	-	C	136265611	7	5	188	1	0	1	1	0	0	0	0	0	2508	1461	51	0	1198	0	C9orf96	9	136265611	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	4781986	136265611	4947820	54	10710											
ADAMTSL2	9719	hgsc.bcm.edu	37	9	136405833	136405834	+	Frame_Shift_Ins	INS	-	-	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr9:136405833_136405834insT	ENST00000354484.4	+	6	1083_1084	c.526_527insT	c.(526-528)ctgfs	p.L176fs	ADAMTSL2_ENST00000393060.1_Frame_Shift_Ins_p.L176fs|ADAMTSL2_ENST00000393061.3_Frame_Shift_Ins_p.L285fs	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	176					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R177fs*10(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCTCACTGACCTGCGAGGGGTT	0.614																																																1	Insertion - Frameshift(1)	ovary(1)	9																																								135395655	SO:0001589	frameshift_variant	9719			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.527dupT	9.37:g.136405834_136405834dupT	ENSP00000346478:p.Leu176fs		135395654	B1B0D5|O60345	Frame_Shift_Ins	INS	ENST00000354484.4	37	CCDS6976.1																																																																																				0.614	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		T	136405834	-	T	136405833	7	5	188	1	0	1	1	0	0	0	0	0	275	680	24	0	544	0	ADAMTSL2	9	136405833	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	140222	136405833	4807598	55	10711											
DIP2C	22982	hgsc.bcm.edu	37	10	391048	391048	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr10:391048delC	ENST00000280886.6	-	27	3321	c.3234delG	c.(3232-3234)gtgfs	p.V1078fs		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1078						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S1079fs*6(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAGAGCGACTCACCTGGCATC	0.577																																																1	Deletion - Frameshift(1)	ovary(1)	10											46	38	40					10																	391048		2203	4300	6503	381048	SO:0001589	frameshift_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3234delG	10.37:g.391048delC	ENSP00000280886:p.Val1078fs		381048	B4DPI5|Q5SS78	Frame_Shift_Del	DEL	ENST00000280886.6	37	CCDS7054.1																																																																																				0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		-	391048	C	-	391048	7	5	188	1	0	1	0	1	0	0	0	0	4529	813	29	0	1480	0	DIP2C	10	391048	Frame_Shift_Del	DEL	C	TCGA-23-1120-01A-02W-0484-10		391048	135143699	56	10712											
DDX21	9188	hgsc.bcm.edu	37	10	70723144	70723144	+	Silent	SNP	G	G	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr10:70723144G>A	ENST00000354185.4	+	4	803	c.705G>A	c.(703-705)ggG>ggA	p.G235G	RN7SL373P_ENST00000577512.1_RNA	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	235	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.G235G(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGGAACTGGGAAGACATTCT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	10											147	127	134					10																	70723144		2203	4300	6503	70393150	SO:0001819	synonymous_variant	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.705G>A	10.37:g.70723144G>A			70393150	B2RDL0|Q13436|Q5VX41|Q68D35	Silent	SNP	ENST00000354185.4	37	CCDS31211.1																																																																																				0.473	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		A	70723144	G	A	70723144	2	1	188	1	0	0	0	0	0	0	0	1	4349	1161	41	2		2	DDX21	10	70723144	Silent	SNP	G	TCGA-23-1120-01A-02W-0484-10	70332096	70723144	64811603	57	10713											
DLG5	9231	hgsc.bcm.edu	37	10	79595594	79595594	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr10:79595594C>A	ENST00000372391.2	-	8	1529	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	DLG5_ENST00000372388.2_Missense_Mutation_p.E508D	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	508					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.E508D(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTTCCTTCAGCTCCTGGCACA	0.582																																																1	Substitution - Missense(1)	ovary(1)	10											102	87	92					10																	79595594		2203	4300	6503	79265600	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1524G>T	10.37:g.79595594C>A	ENSP00000361467:p.Glu508Asp		79265600	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606440	0.66445	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.06371	3.31;3.38	5.8	1.9	0.25705	.	0.000000	0.39544	N	0.001326	T	0.18130	0.0435	M	0.68317	2.08	0.29106	N	0.88118	D;D;D	0.76494	0.989;0.999;0.996	D;D;D	0.77557	0.922;0.99;0.987	T	0.01051	-1.1468	10	0.51188	T	0.08	.	8.823	0.35039	0.0:0.5889:0.0:0.4111	.	398;508;508	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	D	508	ENSP00000361467:E508D;ENSP00000361464:E508D	ENSP00000361464:E508D	E	-	3	2	DLG5	79265600	0.928000	0.31464	1.000000	0.80357	0.999000	0.98932	0.083000	0.14871	0.801000	0.34066	0.655000	0.94253	GAG		0.582	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			A	79595594	C	A	79595594	3	1	188	1	0	0	0	0	1	0	0	0	4558	796	28	3	4335	3	DLG5	10	79595594	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	8872450	79595594	55939153	58	10714											
ANXA11	311	hgsc.bcm.edu	37	10	81930613	81930613	+	Silent	SNP	C	C	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr10:81930613C>A	ENST00000438331.1	-	5	596	c.114G>T	c.(112-114)ggG>ggT	p.G38G	ANXA11_ENST00000360615.4_Silent_p.G38G|ANXA11_ENST00000265447.4_Silent_p.G38G|ANXA11_ENST00000537102.1_Silent_p.G5G|ANXA11_ENST00000372231.3_Silent_p.G38G|ANXA11_ENST00000422982.3_Silent_p.G38G|ANXA11_ENST00000535999.1_Silent_p.G38G|ANXA11_ENST00000463657.1_5'Flank	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	38					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.G38G(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CGTTATCCAGCCCGATGGGGG	0.647																																																1	Substitution - coding silent(1)	ovary(1)	10											70	62	65					10																	81930613		2203	4300	6503	81920593	SO:0001819	synonymous_variant	311			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.114G>T	10.37:g.81930613C>A			81920593	B4DVE7	Silent	SNP	ENST00000438331.1	37	CCDS7364.1																																																																																				0.647	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		A	81930613	C	A	81930613	2	1	188	1	0	0	0	0	0	0	0	1	716	726	26	3		3	ANXA11	10	81930613	Silent	SNP	C	TCGA-23-1120-01A-02W-0484-10	2335019	81930613	53604134	59	10715											
SEC23IP	11196	hgsc.bcm.edu	37	10	121658154	121658154	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr10:121658154C>G	ENST00000369075.3	+	2	451	c.379C>G	c.(379-381)Caa>Gaa	p.Q127E	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	127	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q127E(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AACTGGATCCCAAGATGTCTC	0.478																																																1	Substitution - Missense(1)	ovary(1)	10											165	140	148					10																	121658154		2203	4300	6503	121648144	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.379C>G	10.37:g.121658154C>G	ENSP00000358071:p.Gln127Glu		121648144	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.110997	0.37242	.	.	ENSG00000107651	ENST00000369075	D	0.97352	-4.35	5.44	5.44	0.79542	.	0.670897	0.16279	N	0.221442	D	0.94968	0.8372	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	D	0.92006	0.5614	10	0.07813	T	0.8	-11.319	19.2574	0.93951	0.0:1.0:0.0:0.0	.	127	Q9Y6Y8	S23IP_HUMAN	E	127	ENSP00000358071:Q127E	ENSP00000358071:Q127E	Q	+	1	0	SEC23IP	121648144	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	2.310000	0.43708	2.546000	0.85860	0.655000	0.94253	CAA		0.478	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			G	121658154	C	G	121658154	3	3	188	1	0	0	0	0	1	0	0	0	13996	595	21	3	385	3	SEC23IP	10	121658154	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	39727541	121658154	13876593	60	10716											
AP2A2	161	hgsc.bcm.edu	37	11	993375	993375	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr11:993375G>A	ENST00000448903.2	+	12	1685	c.1544G>A	c.(1543-1545)aGa>aAa	p.R515K	AP2A2_ENST00000332231.5_Missense_Mutation_p.R516K|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	515					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.R516K(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGACCCGAGATCCAGGTGA	0.657																																																1	Substitution - Missense(1)	ovary(1)	11											37	41	40					11																	993375		1925	4129	6054	983375	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1544G>A	11.37:g.993375G>A	ENSP00000413234:p.Arg515Lys		983375	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	G	5.737	0.320433	0.10845	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.26810	1.71;1.71	3.51	3.51	0.40186	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39064	0.1064	L	0.46819	1.47	0.80722	D	1	P;B;B	0.42161	0.772;0.302;0.332	P;B;B	0.62382	0.901;0.182;0.277	T	0.09443	-1.0674	10	0.08179	T	0.78	-44.1555	15.903	0.79397	0.0:0.0:1.0:0.0	.	254;516;515	B7Z1Q4;O94973-2;O94973	.;.;AP2A2_HUMAN	K	515;516;516;252;255	ENSP00000413234:R515K;ENSP00000327694:R516K	ENSP00000327694:R516K	R	+	2	0	AP2A2	983375	1.000000	0.71417	0.218000	0.23776	0.076000	0.17211	9.709000	0.98729	1.896000	0.54893	0.462000	0.41574	AGA		0.657	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		A	993375	G	A	993375	3	1	188	1	0	0	0	0	1	0	0	0	740	942	33	2	1590	2	AP2A2	11	993375	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10		993375	134013141	61	10717											
ARFGAP2	84364	hgsc.bcm.edu	37	11	47197456	47197456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr11:47197456delG	ENST00000524782.1	-	3	438	c.210delC	c.(208-210)tccfs	p.S70fs	ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000426335.2_Frame_Shift_Del_p.S70fs	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	70	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.N71fs*7(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTTCCAGTTGGAATCCAACT	0.547																																																1	Deletion - Frameshift(1)	ovary(1)	11											128	106	113					11																	47197456		2201	4298	6499	47154032	SO:0001589	frameshift_variant	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.210delC	11.37:g.47197456delG	ENSP00000434442:p.Ser70fs		47154032	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Frame_Shift_Del	DEL	ENST00000524782.1	37	CCDS7926.1																																																																																				0.547	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		-	47197456	G	-	47197456	7	5	188	1	0	1	0	1	0	0	0	0	850	1335	47	0	1411	0	ARFGAP2	11	47197456	Frame_Shift_Del	DEL	G	TCGA-23-1120-01A-02W-0484-10	46204081	47197456	87809060	62	10718											
SCYL1	57410	hgsc.bcm.edu	37	11	65305475	65305475	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr11:65305475A>G	ENST00000270176.5	+	16	2146	c.2069A>G	c.(2068-2070)gAg>gGg	p.E690G	SCYL1_ENST00000527009.1_Missense_Mutation_p.E547G|SCYL1_ENST00000533862.1_Splice_Site_p.S678G|SCYL1_ENST00000525364.1_Missense_Mutation_p.E689G|SCYL1_ENST00000534462.1_3'UTR|SCYL1_ENST00000420247.2_Missense_Mutation_p.E673G|SCYL1_ENST00000279270.6_Missense_Mutation_p.E690G|SCYL1_ENST00000524944.1_Missense_Mutation_p.E690G	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	690					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.E690G(1)		ovary(1)|skin(1)	2						AAATCCCCAGAGTCCGACTGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	11											50	51	51					11																	65305475		1901	4125	6026	65062051	SO:0001583	missense	57410			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.2069A>G	11.37:g.65305475A>G	ENSP00000270176:p.Glu690Gly		65062051	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	CCDS41672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.48|11.48	1.651560|1.651560	0.29336|0.29336	.|.	.|.	ENSG00000142186|ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545|ENST00000533862	T;T;T;T;T;T;T|T	0.36520|0.08720	2.3;2.22;2.28;2.3;2.3;2.3;1.25|3.06	4.16|4.16	2.98|2.98	0.34508|0.34508	.|.	0.314247|.	0.21700|.	U|.	0.070431|.	T|T	0.08403|0.08403	0.0209|0.0209	L|L	0.53249|0.53249	1.67|1.67	0.43133|0.43133	D|D	0.994872|0.994872	B;P;B;B|B	0.35575|0.02656	0.191;0.51;0.29;0.191|0.0	B;B;B;B|B	0.32864|0.06405	0.073;0.154;0.098;0.073|0.002	T|T	0.15752|0.15752	-1.0426|-1.0426	10|8	0.45353|.	T|.	0.12|.	.|.	7.7708|7.7708	0.29008|0.29008	0.7869:0.213:0.0:0.0|0.7869:0.213:0.0:0.0	.|.	690;690;673;690|678	E9PS17;Q96KG9-4;Q96KG9-2;Q96KG9|Q96KG9-6	.;.;.;NTKL_HUMAN|.	G|G	690;689;673;690;690;547;162|678	ENSP00000270176:E690G;ENSP00000431635:E689G;ENSP00000408192:E673G;ENSP00000279270:E690G;ENSP00000432175:E690G;ENSP00000436993:E547G;ENSP00000433604:E162G|ENSP00000437254:S678G	ENSP00000270176:E690G|.	E|S	+|+	2|1	0|0	SCYL1|SCYL1	65062051|65062051	0.998000|0.998000	0.40836|0.40836	0.110000|0.110000	0.21437|0.21437	0.110000|0.110000	0.19582|0.19582	3.175000|3.175000	0.50855|0.50855	0.561000|0.561000	0.29186|0.29186	0.459000|0.459000	0.35465|0.35465	GAG|AGT		0.627	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		G	65305475	A	G	65305475	3	3	188	1	0	0	0	0	1	0	0	0	13950	304	11	4	2131	4	SCYL1	11	65305475	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	18108019	65305475	69701041	63	10719											
DDX25	29118	hgsc.bcm.edu	37	11	125788554	125788555	+	In_Frame_Ins	INS	-	-	GAT			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr11:125788554_125788555insGAT	ENST00000263576.6	+	10	1225_1226	c.1070_1071insGAT	c.(1069-1074)gagatg>gaGATgatg	p.358_359insM	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	358	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.M244_I245insM(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TTGACCGTGGAGATGATACAGG	0.515																																																1	Insertion - In frame(1)	ovary(1)	11																																								125293765	SO:0001652	inframe_insertion	29118			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1074_1076dupGAT	11.37:g.125788558_125788560dupGAT	ENSP00000263576:p.Met358_Met358dup		125293764	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	In_Frame_Ins	INS	ENST00000263576.6	37	CCDS44766.1																																																																																				0.515	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		GAT	125788555	-	GAT	125788554	7	5	188	1	0	1	1	0	0	0	0	0	4352	304	11	0	1108	0	DDX25	11	125788554	In_Frame_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	60483079	125788554	9217962	64	10720											
KCNA6	3742	hgsc.bcm.edu	37	12	4919495	4919496	+	Frame_Shift_Ins	INS	-	-	A	rs570806842|rs533147484		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr12:4919495_4919496insA	ENST00000280684.3	+	1	1154_1155	c.288_289insA	c.(289-291)ctcfs	p.L97fs	KCNA6_ENST00000433855.1_Frame_Shift_Ins_p.L97fs|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	97					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.L97fs*69(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TCGACGCCATCCTCTACTACTA	0.653										HNSCC(72;0.22)																																						1	Insertion - Frameshift(1)	ovary(1)	12																																								4789757	SO:0001589	frameshift_variant	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		Exception_encountered	12.37:g.4919495_4919496insA	ENSP00000280684:p.Leu97fs		4789756		Frame_Shift_Ins	INS	ENST00000280684.3	37	CCDS8534.1																																																																																				0.653	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		A	4919496	-	A	4919495	7	5	188	1	0	1	1	0	0	0	0	0	8007	845	30	0	290	0	KCNA6	12	4919495	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10		4919495	128932400	65	10721											
KCNA6	3742	hgsc.bcm.edu	37	12	4919678	4919679	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr12:4919678_4919679delGC	ENST00000280684.3	+	1	1337_1338	c.471_472delGC	c.(469-474)cagcgcfs	p.R158fs	KCNA6_ENST00000433855.1_Frame_Shift_Del_p.R158fs|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	158					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R158fs*7(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	AGCCCTTCCAGCGCCAGGTGTG	0.658										HNSCC(72;0.22)																																						1	Deletion - Frameshift(1)	ovary(1)	12																																								4789940	SO:0001589	frameshift_variant	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.471_472delGC	12.37:g.4919680_4919681delGC	ENSP00000280684:p.Arg158fs		4789939		Frame_Shift_Del	DEL	ENST00000280684.3	37	CCDS8534.1																																																																																				0.658	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		-	4919679	GC	-	4919678	7	5	188	1	0	1	0	1	0	0	0	0	8007	962	34	0	473	0	KCNA6	12	4919678	Frame_Shift_Del	DEL	GC	TCGA-23-1120-01A-02W-0484-10	183	4919678	128932217	66	10722											
VWF	7450	hgsc.bcm.edu	37	12	6103046	6103047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr12:6103046_6103047insC	ENST00000261405.5	-	37	6833_6834	c.6579_6580insG	c.(6577-6582)tggaggfs	p.R2194fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2194					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R2194fs*4(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCAGGTGTCCTCCAGTCAACGC	0.545																																																1	Insertion - Frameshift(1)	ovary(1)	12																																								5973308	SO:0001589	frameshift_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6580dupG	12.37:g.6103048_6103048dupC	ENSP00000261405:p.Arg2194fs		5973307	Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	CCDS8539.1																																																																																				0.545	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6103047	-	C	6103046	7	5	188	1	0	1	1	0	0	0	0	0	17246	1550	54	0	1925	0	VWF	12	6103046	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	1183368	6103046	127748849	67	10723											
KRT77	374454	hgsc.bcm.edu	37	12	53096815	53096815	+	Missense_Mutation	SNP	C	C	G	rs377708946		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr12:53096815C>G	ENST00000341809.3	-	1	432	c.404G>C	c.(403-405)gGc>gCc	p.G135A	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	135	Head.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G135A(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCTTGGATGCCCCCAGGAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											137	123	128					12																	53096815		2203	4300	6503	51383082	SO:0001583	missense	374454			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.404G>C	12.37:g.53096815C>G	ENSP00000342710:p.Gly135Ala		51383082	Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781795	0.49891	.	.	ENSG00000189182	ENST00000341809	D	0.98060	-4.69	4.4	4.4	0.53042	.	.	.	.	.	D	0.99042	0.9672	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99316	1.0905	9	0.87932	D	0	.	17.6072	0.88041	0.0:1.0:0.0:0.0	.	135	Q7Z794	K2C1B_HUMAN	A	135	ENSP00000342710:G135A	ENSP00000342710:G135A	G	-	2	0	KRT77	51383082	0.923000	0.31300	0.951000	0.38953	0.056000	0.15407	3.146000	0.50631	2.483000	0.83821	0.585000	0.79938	GGC		0.562	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		G	53096815	C	G	53096815	3	3	188	1	0	0	0	0	1	0	0	0	8490	739	26	3	1368	3	KRT77	12	53096815	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	46993769	53096815	80755080	68	10724											
GLI1	2735	hgsc.bcm.edu	37	12	57865802	57865802	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr12:57865802A>T	ENST00000228682.2	+	12	3370	c.3279A>T	c.(3277-3279)agA>agT	p.R1093S	GLI1_ENST00000543426.1_Missense_Mutation_p.R965S|GLI1_ENST00000546141.1_Missense_Mutation_p.R1052S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1093					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.R1093S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCTTACTGAGATCCCTACCTG	0.532																																					Pancreas(157;841 1936 10503 41495 50368)											1	Substitution - Missense(1)	ovary(1)	12											68	69	69					12																	57865802		2203	4300	6503	56152069	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.3279A>T	12.37:g.57865802A>T	ENSP00000228682:p.Arg1093Ser		56152069	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344005	0.24339	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.11063	2.92;2.81;2.88;2.88	5.22	-2.5	0.06384	.	0.151192	0.31082	N	0.008282	T	0.02418	0.0074	N	0.01874	-0.695	0.23162	N	0.99819	B	0.02656	0.0	B	0.04013	0.001	T	0.37549	-0.9701	10	0.20046	T	0.44	.	2.1559	0.03811	0.2367:0.1259:0.3927:0.2447	.	1093	P08151	GLI1_HUMAN	S	965;1093;1052;1052;561	ENSP00000437607:R965S;ENSP00000228682:R1093S;ENSP00000441006:R1052S;ENSP00000434408:R1052S	ENSP00000228682:R1093S	R	+	3	2	GLI1	56152069	0.975000	0.34042	0.982000	0.44146	0.677000	0.39632	0.130000	0.15850	-0.279000	0.09167	-0.250000	0.11733	AGA		0.532	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		T	57865802	A	T	57865802	3	4	188	1	0	0	0	0	1	0	0	0	6437	330	12	5	3321	5	GLI1	12	57865802	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	4768987	57865802	75986093	69	10725											
AVIL	10677	hgsc.bcm.edu	37	12	58201432	58201432	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr12:58201432G>T	ENST00000257861.3	-	11	1703	c.1273C>A	c.(1273-1275)Ctg>Atg	p.L425M	AVIL_ENST00000537081.1_Missense_Mutation_p.L418M|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'Flank|RNU6-1083P_ENST00000384022.1_RNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	425	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.L425M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TAGAGGACCAGATAACAGTCT	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											116	108	111					12																	58201432		2203	4300	6503	56487699	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1273C>A	12.37:g.58201432G>T	ENSP00000257861:p.Leu425Met		56487699	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433558	0.62955	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.71103	-0.54;-0.54	5.07	4.18	0.49190	Gelsolin domain (1);	0.000000	0.64402	D	0.000001	D	0.85881	0.5800	H	0.94771	3.58	0.49299	D	0.999771	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.86358	0.1715	10	0.72032	D	0.01	-8.148	6.6144	0.22769	0.2682:0.0:0.7318:0.0	.	418;425	O75366-2;O75366	.;AVIL_HUMAN	M	418;425	ENSP00000443207:L418M;ENSP00000257861:L425M	ENSP00000257861:L425M	L	-	1	2	AVIL	56487699	1.000000	0.71417	0.997000	0.53966	0.897000	0.52465	2.139000	0.42149	1.360000	0.45960	0.561000	0.74099	CTG		0.507	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		T	58201432	G	T	58201432	3	4	188	1	0	0	0	0	1	0	0	0	1227	933	33	3	1222	3	AVIL	12	58201432	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10	335630	58201432	75650463	70	10726											
ACACB	32	hgsc.bcm.edu	37	12	109671624	109671624	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr12:109671624C>T	ENST00000338432.7	+	30	4330	c.4211C>T	c.(4210-4212)aCc>aTc	p.T1404I	ACACB_ENST00000543201.1_Missense_Mutation_p.T70I|ACACB_ENST00000377854.5_Missense_Mutation_p.T1334I|ACACB_ENST00000377848.3_Missense_Mutation_p.T1404I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1404					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.T1404I(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAGGCCCGCACCTCCCTATAC	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											79	77	78					12																	109671624		2203	4300	6503	108156007	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4211C>T	12.37:g.109671624C>T	ENSP00000341044:p.Thr1404Ile		108156007	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	9.596	1.127480	0.20959	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.21	-0.389	0.12455	Acetyl-CoA carboxylase, central domain (1);	0.485095	0.24167	N	0.040929	T	0.30916	0.0780	N	0.14661	0.345	0.09310	N	1	P	0.41498	0.752	P	0.48488	0.579	T	0.28106	-1.0054	10	0.38643	T	0.18	.	10.2596	0.43419	0.3775:0.4015:0.221:0.0	.	1404	O00763	ACACB_HUMAN	I	1404;1404;1334;635;70	ENSP00000341044:T1404I;ENSP00000367079:T1404I;ENSP00000367085:T1334I;ENSP00000444075:T70I	ENSP00000341044:T1404I	T	+	2	0	ACACB	108156007	0.015000	0.18098	0.000000	0.03702	0.269000	0.26545	1.102000	0.31050	-0.279000	0.09167	0.655000	0.94253	ACC		0.617	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109671624	C	T	109671624	3	4	188	1	0	0	0	0	1	0	0	0	107	507	18	2	4325	2	ACACB	12	109671624	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	51470192	109671624	24180271	71	10727											
SRRM4	84530	hgsc.bcm.edu	37	12	119583488	119583489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr12:119583488_119583489insC	ENST00000267260.4	+	9	1462_1463	c.1074_1075insC	c.(1075-1077)aggfs	p.R359fs		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	359	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.R359fs*67(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCAGAGAGTCAAGGTCAGTGCA	0.594																																																1	Insertion - Frameshift(1)	ovary(1)	12																																								118067872	SO:0001589	frameshift_variant	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	Exception_encountered	12.37:g.119583488_119583489insC	ENSP00000267260:p.Arg359fs		118067871	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Frame_Shift_Ins	INS	ENST00000267260.4	37	CCDS44994.1																																																																																				0.594	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		C	119583489	-	C	119583488	7	5	188	1	0	1	1	0	0	0	0	0	15173	117	5	0	1108	0	SRRM4	12	119583488	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	9911864	119583488	14268407	72	10728											
DNAH10	196385	hgsc.bcm.edu	37	12	124415898	124415898	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr12:124415898delG	ENST00000409039.3	+	73	12466	c.12441delG	c.(12439-12441)gagfs	p.E4147fs	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4147					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2740fs*60(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGCCATCGAGGCCCTCCCGC	0.582																																																1	Deletion - Frameshift(1)	ovary(1)	12											55	61	59					12																	124415898		2104	4218	6322	122981851	SO:0001589	frameshift_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12441delG	12.37:g.124415898delG	ENSP00000386770:p.Glu4147fs		122981851	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	CCDS9255.2																																																																																				0.582	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			-	124415898	G	-	124415898	7	5	188	1	0	1	0	1	0	0	0	0	4598	991	35	0	12731	0	DNAH10	12	124415898	Frame_Shift_Del	DEL	G	TCGA-23-1120-01A-02W-0484-10	4832410	124415898	9435997	73	10729											
BRCA2	90634	hgsc.bcm.edu	37	13	32972481	32972481	+	IGR	DEL	G	G	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	-	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr13:32972481delG	ENST00000380130.2	-	0	3046				BRCA2_ENST00000544455.1_Frame_Shift_Del_p.L3277fs|BRCA2_ENST00000380152.3_Frame_Shift_Del_p.L3277fs	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1									p.P3278fs*35(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TGAGTAGACTGCCTTTACCTC	0.448																																																1	Deletion - Frameshift(1)	ovary(1)	13											181	177	178					13																	32972481		2203	4300	6503	31870481	SO:0001628	intergenic_variant	675			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972481delG			31870481	A4QN21|Q5TBK0	Frame_Shift_Del	DEL	ENST00000380130.2	37	CCDS9345.2																																																																																				0.448	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		-	32972481	G	-	32972481	6	5	188	0	1	1	0	1	0	0	0	0	1499	1306	46	0		0	BRCA2	13	32972481	IGR	DEL	G	TCGA-23-1120-01A-02W-0484-10		32972481	82197397	74	10730											
DACH1	1602	hgsc.bcm.edu	37	13	72147085	72147085	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr13:72147085C>T	ENST00000359684.2	-	5	1347	c.1348G>A	c.(1348-1350)Gca>Aca	p.A450T	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.A398T			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	450					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.A398T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTGACAGATGCTGGAGGTAGG	0.478																																																1	Substitution - Missense(1)	ovary(1)	13											98	100	100					13																	72147085		2082	4248	6330	71045086	SO:0001583	missense	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1348G>A	13.37:g.72147085C>T	ENSP00000352712:p.Ala450Thr		71045086	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37		.	.	.	.	.	.	.	.	.	.	C	35	5.502694	0.96371	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.50813	1.15;0.73	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	M	0.74881	2.28	0.80722	D	1	D	0.55605	0.972	P	0.52159	0.691	T	0.62515	-0.6838	10	0.44086	T	0.13	-10.1282	19.5667	0.95397	0.0:1.0:0.0:0.0	.	396	Q9UI36-2	.	T	398;450;450	ENSP00000304994:A398T;ENSP00000352712:A450T	ENSP00000304994:A398T	A	-	1	0	DACH1	71045086	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.346000	0.79347	2.800000	0.96347	0.591000	0.81541	GCA		0.478	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		T	72147085	C	T	72147085	3	4	188	1	0	0	0	0	1	0	0	0	4220	797	28	2	966	2	DACH1	13	72147085	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	39174604	72147085	43022793	75	10731											
RASA3	22821	hgsc.bcm.edu	37	13	114765132	114765133	+	In_Frame_Ins	INS	-	-	CTC			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr13:114765132_114765133insCTC	ENST00000334062.7	-	20	1981_1982	c.1860_1861insGAG	c.(1858-1863)cctctc>cctGAGctc	p.620_621PL>PEL	RASA3_ENST00000389544.4_In_Frame_Ins_p.588_589PL>PEL	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	620	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.P620_L621insE(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATGCTGTAGAGAGGCTGGTCCC	0.624																																																1	Insertion - In frame(1)	ovary(1)	13																																								113783235	SO:0001652	inframe_insertion	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1860_1861insGAG	13.37:g.114765132_114765133insCTC	ENSP00000335029:p.Pro620_Leu621insGlu		113783234	A6NL15|F8W6X8|Q8IUY2	In_Frame_Ins	INS	ENST00000334062.7	37	CCDS32016.1																																																																																				0.624	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		CTC	114765133	-	CTC	114765132	7	5	188	1	0	1	1	0	0	0	0	0	13065	942	33	0	663	0	RASA3	13	114765132	In_Frame_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	42618047	114765132	404746	76	10732											
METT11D1	64745	hgsc.bcm.edu	37	14	21458722	21458722	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr14:21458722C>A	ENST00000339374.6	+	3	562	c.329C>A	c.(328-330)gCt>gAt	p.A110D	METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000382985.4_Missense_Mutation_p.A110D|METTL17_ENST00000556670.2_Missense_Mutation_p.A110D	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	110					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)	p.A110D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAAAGACGGGCTAGGCATCTT	0.453											OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	14											55	61	59					14																	21458722		2203	4300	6503	20528562	SO:0001583	missense	64745			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.329C>A	14.37:g.21458722C>A	ENSP00000343041:p.Ala110Asp	748	20528562	Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970383	0.74246	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000536700;ENST00000553564;ENST00000554751;ENST00000554283;ENST00000555670	T;T;T	0.34859	1.37;1.34;1.93	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.65498	2.005	0.53688	D	0.999973	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.44590	-0.9318	10	0.12766	T	0.61	.	16.1513	0.81624	0.0:1.0:0.0:0.0	.	110;110;110;110	B4E298;Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;.;MET17_HUMAN;.	D	110;110;148;28;28;148;28	ENSP00000343041:A110D;ENSP00000372445:A110D;ENSP00000451478:A28D	ENSP00000343041:A110D	A	+	2	0	METTL17	20528562	0.965000	0.33210	0.966000	0.40874	0.324000	0.28378	2.303000	0.43646	2.882000	0.98803	0.655000	0.94253	GCT		0.453	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		A	21458722	C	A	21458722	3	1	188	1	0	0	0	0	1	0	0	0	9491	797	28	3	339	3	METT11D1	14	21458722	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10		21458722	85890818	77	10733											
PSME1	5720	hgsc.bcm.edu	37	14	24606394	24606394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr14:24606394delG	ENST00000206451.6	+	3	220	c.115delG	c.(115-117)gagfs	p.E39fs	PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000382708.3_Frame_Shift_Del_p.E39fs|EMC9_ENST00000558200.1_5'Flank|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000561435.1_Frame_Shift_Del_p.E39fs|PSME1_ENST00000559123.1_5'UTR	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)	p.E39fs*6(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GAAGATTTCTGAGCTGGATGC	0.547																																																1	Deletion - Frameshift(1)	ovary(1)	14											120	130	127					14																	24606394		2203	4300	6503	23676234	SO:0001589	frameshift_variant	5720				CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"Proteasome (prosome, macropain) subunits"	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.115delG	14.37:g.24606394delG	ENSP00000206451:p.Glu39fs		23676234	A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Frame_Shift_Del	DEL	ENST00000206451.6	37	CCDS9612.1																																																																																				0.547	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		-	24606394	G	-	24606394	7	5	188	1	0	1	0	1	0	0	0	0	12709	1291	45	0	125	0	PSME1	14	24606394	Frame_Shift_Del	DEL	G	TCGA-23-1120-01A-02W-0484-10	3147672	24606394	82743146	78	10734											
CHMP4A	29082	hgsc.bcm.edu	37	14	24680630	24680630	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr14:24680630T>G	ENST00000609024.1	-	3	398	c.350A>C	c.(349-351)tAc>tCc	p.Y117S	TM9SF1_ENST00000556387.1_Missense_Mutation_p.Y117S|CHMP4A_ENST00000530996.1_Missense_Mutation_p.Y12S|MDP1_ENST00000532557.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_Missense_Mutation_p.Y160S|NEDD8-MDP1_ENST00000604306.1_5'Flank|TM9SF1_ENST00000530611.1_Missense_Mutation_p.Y117S|CHMP4A_ENST00000542700.2_5'UTR			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	117	Intramolecular interaction with C- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.Y160S(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		CATGTCCTGGTAGGCCTTCTT	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											82	71	74					14																	24680630		2203	4300	6503	23750470	SO:0001583	missense	29082			AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"Charged multivesicular body proteins"	20274	protein-coding gene	gene with protein product		610051	"chromosome 14 open reading frame 123", "chromatin modifying protein 4A"	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.350A>C	14.37:g.24680630T>G	ENSP00000476412:p.Tyr117Ser		23750470	Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37		.	.	.	.	.	.	.	.	.	.	T	16.76	3.211825	0.58452	.	.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.59	4.59	0.56863	.	0.161391	0.29493	N	0.011995	T	0.62454	0.2429	L	0.34521	1.04	0.37264	D	0.907109	B;B	0.26041	0.14;0.066	B;B	0.32090	0.14;0.069	T	0.68349	-0.5432	10	0.87932	D	0	-2.9377	11.9493	0.52946	0.0:0.0:0.0:1.0	.	117;160	Q9BY43;Q14D22	CHM4A_HUMAN;.	S	117;117;160;127	ENSP00000451949:Y117S;ENSP00000433967:Y117S;ENSP00000324205:Y160S;ENSP00000432575:Y127S	ENSP00000324205:Y160S	Y	-	2	0	TM9SF1;AL096870.1;RP11-468E2.1	23750470	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.602000	0.67612	1.934000	0.56057	0.459000	0.35465	TAC		0.537	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		G	24680630	T	G	24680630	3	3	188	1	0	0	0	0	1	0	0	0	3356	1638	57	5	334	5	CHMP4A	14	24680630	Missense_Mutation	SNP	T	TCGA-23-1120-01A-02W-0484-10	74236	24680630	82668910	79	10735											
AHNAK2	113146	hgsc.bcm.edu	37	14	105413319	105413320	+	Frame_Shift_Del	DEL	GA	GA	-	rs367598825	byFrequency	TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr14:105413319_105413320delGA	ENST00000333244.5	-	7	8587_8588	c.8468_8469delTC	c.(8467-8469)ttcfs	p.F2823fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2823						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.F2823F(1)|p.F2823fs*17(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGACACCCCGAATGACGGCAT	0.599																																																2	Deletion - Frameshift(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(1)|ovary(1)	14																																								104484365	SO:0001589	frameshift_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8468_8469delTC	14.37:g.105413319_105413320delGA	ENSP00000353114:p.Phe2823fs		104484364	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	CCDS45177.1																																																																																				0.599	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		-	105413320	GA	-	105413319	7	5	188	1	0	1	0	1	0	0	0	0	415	1049	37	0	8922	0	AHNAK2	14	105413319	Frame_Shift_Del	DEL	GA	TCGA-23-1120-01A-02W-0484-10	80732689	105413319	1936221	80	10736											
TBC1D21	161514	hgsc.bcm.edu	37	15	74177227	74177227	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr15:74177227A>T	ENST00000300504.2	+	5	556	c.473A>T	c.(472-474)cAg>cTg	p.Q158L	TBC1D21_ENST00000535547.2_Missense_Mutation_p.Q122L|TBC1D21_ENST00000562056.1_Intron	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	158	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.Q158L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TGCAACACGCAGGCAGGTGAG	0.577																																																1	Substitution - Missense(1)	ovary(1)	15											83	73	76					15																	74177227		2198	4297	6495	71964280	SO:0001583	missense	161514			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.473A>T	15.37:g.74177227A>T	ENSP00000300504:p.Gln158Leu		71964280	B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.076745	0.55753	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.04360	3.64;3.64	5.29	5.29	0.74685	Rab-GAP/TBC domain (4);	0.253309	0.27500	N	0.019083	T	0.03434	0.0099	N	0.08118	0	0.80722	D	1	B;B	0.23185	0.081;0.024	B;B	0.24269	0.052;0.052	T	0.48843	-0.8999	10	0.87932	D	0	.	11.6003	0.50999	1.0:0.0:0.0:0.0	.	122;158	B9A6M2;Q8IYX1	.;TBC21_HUMAN	L	158;122	ENSP00000300504:Q158L;ENSP00000439325:Q122L	ENSP00000300504:Q158L	Q	+	2	0	TBC1D21	71964280	0.999000	0.42202	0.991000	0.47740	0.985000	0.73830	4.753000	0.62183	1.999000	0.58509	0.459000	0.35465	CAG		0.577	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		T	74177227	A	T	74177227	3	4	188	1	0	0	0	0	1	0	0	0	15610	188	7	5	491	5	TBC1D21	15	74177227	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10		74177227	28354165	81	10737											
MGRN1	23295	hgsc.bcm.edu	37	16	4700453	4700454	+	Frame_Shift_Ins	INS	-	-	GCCG			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr16:4700453_4700454insGCCG	ENST00000399577.5	+	2	269_270	c.176_177insGCCG	c.(175-180)gatctgfs	p.DL59fs	MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.DL59fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.DL59fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.DL59fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.DL59fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	59					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D59fs*122(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAGAACATGGATCTGAACTTCC	0.569																																																1	Insertion - Frameshift(1)	ovary(1)	16																																								4640455	SO:0001589	frameshift_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		Exception_encountered	16.37:g.4700453_4700454insGCCG	ENSP00000382487:p.Asp59fs		4640454	A4URL3|A4URL4|Q86W76	Frame_Shift_Ins	INS	ENST00000399577.5	37	CCDS45402.1																																																																																				0.569	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			GCCG	4700454	-	GCCG	4700453	7	5	188	1	0	1	1	0	0	0	0	0	9559	333	12	0	182	0	MGRN1	16	4700453	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10		4700453	85654300	82	10738											
DPEP3	64180	hgsc.bcm.edu	37	16	68009858	68009859	+	Frame_Shift_Ins	INS	-	-	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr16:68009858_68009859insA	ENST00000268793.4	-	10	1724_1725	c.1351_1352insT	c.(1351-1353)ccafs	p.P451fs	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	426					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.P451fs*>64(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TTGCCCATATGGAAACTCAGCC	0.609																																																1	Insertion - Frameshift(1)	ovary(1)	16																																								66567360	SO:0001589	frameshift_variant	64180			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1351_1352insT	16.37:g.68009858_68009859insA	ENSP00000268793:p.Pro451fs		66567359	B3KQ48|Q6PEZ5|Q6UXE4	Frame_Shift_Ins	INS	ENST00000268793.4	37	CCDS10856.1																																																																																				0.609	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		A	68009859	-	A	68009858	7	5	188	1	0	1	1	0	0	0	0	0	4715	1348	47	0	193	0	DPEP3	16	68009858	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	63309405	68009858	22344895	83	10739											
GLG1	2734	hgsc.bcm.edu	37	16	74499603	74499603	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr16:74499603G>A	ENST00000422840.2	-	19	2637	c.2638C>T	c.(2638-2640)Ctc>Ttc	p.L880F	Y_RNA_ENST00000384794.1_RNA|GLG1_ENST00000447066.2_Missense_Mutation_p.L869F|GLG1_ENST00000205061.5_Missense_Mutation_p.L880F	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	880					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.L880F(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACCCTCATGAGGGTGTAGTCT	0.478																																																1	Substitution - Missense(1)	ovary(1)	16											212	204	207					16																	74499603		2198	4300	6498	73057104	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2638C>T	16.37:g.74499603G>A	ENSP00000405984:p.Leu880Phe		73057104	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200250	0.94997	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.71581	2.175	0.80722	D	1	B;P;P;D	0.54207	0.235;0.91;0.811;0.965	B;P;P;P	0.55345	0.285;0.737;0.618;0.774	T	0.75510	-0.3292	9	0.54805	T	0.06	-18.2125	20.3789	0.98926	0.0:0.0:1.0:0.0	.	10;880;880;869	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	F	880;869;880	.	ENSP00000205061:L880F	L	-	1	0	GLG1	73057104	1.000000	0.71417	0.986000	0.45419	0.971000	0.66376	9.505000	0.97989	2.826000	0.97356	0.563000	0.77884	CTC		0.478	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		A	74499603	G	A	74499603	3	1	188	1	0	0	0	0	1	0	0	0	6436	1000	35	2	1013	2	GLG1	16	74499603	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10	6489745	74499603	15855150	84	10740											
PSMB6	5694	hgsc.bcm.edu	37	17	4701625	4701625	+	Silent	SNP	C	C	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr17:4701625C>T	ENST00000270586.3	+	6	679	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	210					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)	p.L210L(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						AGTGATCCGCCTGGCAGCCAT	0.557																																																1	Substitution - coding silent(1)	ovary(1)	17											130	127	128					17																	4701625		2203	4300	6503	4648583	SO:0001819	synonymous_variant	5694			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.628C>T	17.37:g.4701625C>T			4648583	Q96J55	Silent	SNP	ENST00000270586.3	37	CCDS11056.1																																																																																				0.557	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		T	4701625	C	T	4701625	2	4	188	1	0	0	0	0	0	0	0	1	12684	680	24	2		2	PSMB6	17	4701625	Silent	SNP	C	TCGA-23-1120-01A-02W-0484-10		4701625	76493585	85	10741											
ARHGEF15	22899	hgsc.bcm.edu	37	17	8219206	8219207	+	In_Frame_Ins	INS	-	-	ATT			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr17:8219206_8219207insATT	ENST00000361926.3	+	8	1665_1666	c.1555_1556insATT	c.(1555-1557)gag>gATTag	p.519_519E>D*	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_In_Frame_Ins_p.519_519E>D*	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	519	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E519>D*(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTATCAGGAGGAGACCTACAGC	0.619																																																1	Complex - insertion inframe(1)	ovary(1)	17																																								8159932	SO:0001652	inframe_insertion	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	Exception_encountered	17.37:g.8219206_8219207insATT	ENSP00000355026:p.Glu519delinsAsp*		8159931	A8K6G1|Q8N449|Q9H8B4	In_Frame_Ins	INS	ENST00000361926.3	37	CCDS11139.1																																																																																				0.619	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		ATT	8219207	-	ATT	8219206	7	5	188	1	0	1	1	0	0	0	0	0	898	1175	41	0	1581	0	ARHGEF15	17	8219206	In_Frame_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	3517581	8219206	72976004	86	10742											
DRG2	1819	hgsc.bcm.edu	37	17	18003917	18003920	+	Frame_Shift_Del	DEL	CAGT	CAGT	-	rs143296623	byFrequency	TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	CAGT	CAGT	-	-	CAGT	CAGT	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr17:18003917_18003920delCAGT	ENST00000225729.3	+	7	713_716	c.575_578delCAGT	c.(574-579)acagtcfs	p.TV192fs	DRG2_ENST00000395726.4_Frame_Shift_Del_p.TV192fs|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	192	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.V193fs*2(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TTTAACTCGACAGTCACGCTGACC	0.559																																																1	Deletion - Frameshift(1)	ovary(1)	17																																								17944645	SO:0001589	frameshift_variant	1819			X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"developmentally regulated GTP-binding protein 2"			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.575_578delCAGT	17.37:g.18003917_18003920delCAGT	ENSP00000225729:p.Thr192fs		17944642	B2R8G5|Q53Y50|Q9BWB2	Frame_Shift_Del	DEL	ENST00000225729.3	37	CCDS11191.1																																																																																				0.559	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		-	18003920	CAGT	-	18003917	7	5	188	1	0	1	0	1	0	0	0	0	4762	478	17	0	601	0	DRG2	17	18003917	Frame_Shift_Del	DEL	CAGT	TCGA-23-1120-01A-02W-0484-10	9784711	18003917	63191293	87	10743											
GSDMB	55876	hgsc.bcm.edu	37	17	38063235	38063235	+	Intron	SNP	C	C	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr17:38063235C>A	ENST00000394179.1	-	7	843				GSDMB_ENST00000418519.1_Missense_Mutation_p.D236Y|GSDMB_ENST00000394175.2_Intron|GSDMB_ENST00000520542.1_Intron|GSDMB_ENST00000309481.7_Missense_Mutation_p.D223Y|GSDMB_ENST00000360317.3_Missense_Mutation_p.D236Y			Q8TAX9	GSDMB_HUMAN	gasdermin B							cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GAAGCACCATCCTTCTCTGCA	0.498																																																0			17											108	105	106					17																	38063235		1991	4160	6151	35316761	SO:0001627	intron_variant	55876			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"gasdermin-like"	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.713-711G>T	17.37:g.38063235C>A			35316761	B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.35|10.35	1.324803|1.324803	0.24080|0.24080	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000309481;ENST00000418519|ENST00000420491	T;T|.	0.21191|.	3.09;2.02|.	3.54|3.54	3.54|3.54	0.40534|0.40534	.|.	.|.	.|.	.|.	.|.	T|T	0.51856|0.51856	0.1699|0.1699	L|L	0.44542|0.44542	1.39|1.39	0.34599|0.34599	D|D	0.716311|0.716311	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.67382|.	0.917;0.951|.	T|T	0.60296|0.60296	-0.7291|-0.7291	9|5	0.66056|.	D|.	0.02|.	.|.	10.9149|10.9149	0.47131|0.47131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	236;223|.	Q8TAX9-4;Q8TAX9-3|.	.;.|.	Y|S	223;236|167	ENSP00000312584:D223Y;ENSP00000415049:D236Y|.	ENSP00000312584:D223Y|.	D|R	-|-	1|3	0|2	GSDMB|GSDMB	35316761|35316761	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.399000|0.399000	0.30720|0.30720	0.564000|0.564000	0.23563|0.23563	2.278000|2.278000	0.76064|0.76064	0.609000|0.609000	0.83330|0.83330	GAT|AGG		0.498	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		A	38063235	C	A	38063235	1	1	188	0	1	0	0	0	0	0	0	0	6817	855	30	3		3	GSDMB	17	38063235	Intron	SNP	C	TCGA-23-1120-01A-02W-0484-10	20059318	38063235	43131975	88	10744											
TNS4	84951	hgsc.bcm.edu	37	17	38638615	38638616	+	Frame_Shift_Ins	INS	-	-	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr17:38638615_38638616insT	ENST00000254051.6	-	7	1712_1713	c.1554_1555insA	c.(1552-1557)aaaggafs	p.G519fs		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	519	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.G519fs*9(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGATGCACTCCTTTGGCAGACG	0.564																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								35892142	SO:0001589	frameshift_variant	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1555dupA	17.37:g.38638618_38638618dupT	ENSP00000254051:p.Gly519fs		35892141	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Frame_Shift_Ins	INS	ENST00000254051.6	37	CCDS11368.1																																																																																				0.564	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		T	38638616	-	T	38638615	7	5	188	1	0	1	1	0	0	0	0	0	16345	690	24	0	620	0	TNS4	17	38638615	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	575380	38638615	42556595	89	10745											
COASY	80347	hgsc.bcm.edu	37	17	40716173	40716173	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr17:40716173A>G	ENST00000393818.2	+	2	1351	c.895A>G	c.(895-897)Aac>Gac	p.N299D	MLX_ENST00000346833.4_5'Flank|MLX_ENST00000435881.2_5'Flank|COASY_ENST00000590958.1_Missense_Mutation_p.N328D|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000421097.2_Missense_Mutation_p.N299D|COASY_ENST00000420359.1_Missense_Mutation_p.N299D|COASY_ENST00000449624.1_Missense_Mutation_p.N4D|MLX_ENST00000246912.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	299	Phosphopantetheine adenylyltransferase.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.N299D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GATGGCCATCAACCGCTTCCG	0.622																																																1	Substitution - Missense(1)	ovary(1)	17											35	37	36					17																	40716173		2203	4300	6503	37969699	SO:0001583	missense	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.895A>G	17.37:g.40716173A>G	ENSP00000377406:p.Asn299Asp		37969699	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	A	32	5.131680	0.94473	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	T;D;D	0.96716	0.3;-4.1;-4.1	5.23	5.23	0.72850	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	D	0.98771	1.0728	10	0.87932	D	0	-28.222	13.3897	0.60816	1.0:0.0:0.0:0.0	.	328;299	Q13057-2;Q13057	.;COASY_HUMAN	D	328;4;299;299	ENSP00000407740:N4D;ENSP00000413338:N299D;ENSP00000377406:N299D	ENSP00000377406:N299D	N	+	1	0	COASY	37969699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.118000	0.77137	2.324000	0.78689	0.533000	0.62120	AAC		0.622	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		G	40716173	A	G	40716173	3	3	188	1	0	0	0	0	1	0	0	0	3652	130	5	4	992	4	COASY	17	40716173	Missense_Mutation	SNP	A	TCGA-23-1120-01A-02W-0484-10	2077558	40716173	40479037	90	10746											
SLC4A1	6521	hgsc.bcm.edu	37	17	42330613	42330613	+	Silent	SNP	G	G	A	rs150858709		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr17:42330613G>A	ENST00000262418.6	-	17	2339	c.2184C>T	c.(2182-2184)acC>acT	p.T728T		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	728	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.T728T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGAACGCACGGTGGTGGCAC	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		12368	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	17						G		1,4405	2.1+/-5.4	0,1,2202	76	66	69		2184	-9.2	0.1	17	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous	SLC4A1	NM_000342.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		728/912	42330613	1,13005	2203	4300	6503	39686139	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2184C>T	17.37:g.42330613G>A			39686139	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	CCDS11481.1																																																																																				0.642	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		A	42330613	G	A	42330613	2	1	188	1	0	0	0	0	0	0	0	1	14653	1103	39	1		1	SLC4A1	17	42330613	Silent	SNP	G	TCGA-23-1120-01A-02W-0484-10	1614440	42330613	38864597	91	10747											
AXIN2	8313	hgsc.bcm.edu	37	17	63554371	63554371	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr17:63554371T>G	ENST00000375702.5	-	1	476	c.368A>C	c.(367-369)aAg>aCg	p.K123T	AXIN2_ENST00000307078.5_Missense_Mutation_p.K123T|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	123	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.K123T(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTTGGTATCCTTCAGGTTCAT	0.478									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																							1	Substitution - Missense(1)	ovary(1)	17											269	238	248					17																	63554371		2203	4300	6503	60984833	SO:0001583	missense	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.368A>C	17.37:g.63554371T>G	ENSP00000364854:p.Lys123Thr		60984833	Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37		.	.	.	.	.	.	.	.	.	.	T	9.433	1.086142	0.20390	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.21543	2.0;2.0;2.0	4.36	4.36	0.52297	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.113878	0.64402	D	0.000009	T	0.31796	0.0808	L	0.43152	1.355	0.58432	D	0.999991	D;P;D	0.76494	0.999;0.599;0.999	D;P;D	0.74674	0.984;0.475;0.984	T	0.04333	-1.0959	10	0.23302	T	0.38	-26.2133	8.3559	0.32329	0.0:0.0894:0.0:0.9106	.	123;123;123	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	T	123	ENSP00000302625:K123T;ENSP00000441151:K123T;ENSP00000364854:K123T	ENSP00000302625:K123T	K	-	2	0	AXIN2	60984833	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.533000	0.81994	1.602000	0.50124	0.374000	0.22700	AAG		0.478	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		G	63554371	T	G	63554371	3	3	188	1	0	0	0	0	1	0	0	0	1237	1609	56	5	2203	5	AXIN2	17	63554371	Missense_Mutation	SNP	T	TCGA-23-1120-01A-02W-0484-10	21223758	63554371	17640839	92	10748											
NARF	26502	hgsc.bcm.edu	37	17	80445993	80445994	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr17:80445993_80445994insGA	ENST00000309794.11	+	11	1529_1530	c.1331_1332insGA	c.(1330-1335)agccagfs	p.SQ444fs	NARF_ENST00000345415.7_Frame_Shift_Ins_p.SQ396fs|NARF_ENST00000457415.3_Frame_Shift_Ins_p.SQ490fs|NARF_ENST00000390006.4_Frame_Shift_Ins_p.SQ385fs	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	444						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.S490fs*>14(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACGTACCAGAGCCAGGAGCGTG	0.629																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								78039283	SO:0001589	frameshift_variant	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		Exception_encountered	17.37:g.80445993_80445994insGA	ENSP00000309899:p.Ser444fs		78039282	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Frame_Shift_Ins	INS	ENST00000309794.11	37	CCDS32777.1																																																																																				0.629	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		GA	80445994	-	GA	80445993	7	5	188	1	0	1	1	0	0	0	0	0	10167	971	34	0	1515	0	NARF	17	80445993	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	16891622	80445993	749217	93	10749											
CETN1	1068	hgsc.bcm.edu	37	18	580475	580475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr18:580475delC	ENST00000327228.3	+	1	109	c.67delC	c.(67-69)cccfs	p.P23fs		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	23					cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.E24fs*30(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGCACCTAAGCCCGAGCTCAC	0.612																																																1	Deletion - Frameshift(1)	ovary(1)	18											42	31	34					18																	580475		2203	4300	6503	570475	SO:0001589	frameshift_variant	1068			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.67delC	18.37:g.580475delC	ENSP00000319052:p.Pro23fs		570475	B2R536	Frame_Shift_Del	DEL	ENST00000327228.3	37	CCDS11820.1																																																																																				0.612	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		-	580475	C	-	580475	7	5	188	1	0	1	0	1	0	0	0	0	3274	739	26	0	69	0	CETN1	18	580475	Frame_Shift_Del	DEL	C	TCGA-23-1120-01A-02W-0484-10		580475	77496773	94	10750											
KIAA1632	57724	hgsc.bcm.edu	37	18	43496072	43496072	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr18:43496072C>G	ENST00000282041.5	-	19	3518	c.3484G>C	c.(3484-3486)Gaa>Caa	p.E1162Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1162					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.E1162Q(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATAGGTTGTTCTCGGTACCAG	0.483																																																1	Substitution - Missense(1)	ovary(1)	18											71	69	70					18																	43496072		1940	4139	6079	41750070	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3484G>C	18.37:g.43496072C>G	ENSP00000282041:p.Glu1162Gln		41750070	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829795	0.91036	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10192	2.9	5.92	5.92	0.95590	.	0.370981	0.30428	N	0.009644	T	0.25158	0.0611	L	0.43152	1.355	0.58432	D	0.999998	D;D	0.61080	0.989;0.976	P;P	0.58266	0.836;0.743	T	0.00045	-1.2215	10	0.72032	D	0.01	-17.6143	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1162;1162	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	Q	1162;37	ENSP00000282041:E1162Q	ENSP00000282041:E1162Q	E	-	1	0	EPG5	41750070	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	7.599000	0.82757	2.804000	0.96469	0.655000	0.94253	GAA		0.483	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		G	43496072	C	G	43496072	3	3	188	1	0	0	0	0	1	0	0	0	8249	922	32	3	4359	3	KIAA1632	18	43496072	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	42915597	43496072	34581176	95	10751											
FAM69C	125704	hgsc.bcm.edu	37	18	72103737	72103737	+	Stop_Codon_Del	DEL	T	T	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr18:72103737delT	ENST00000343998.6	-	0	1267				FAM69C_ENST00000400291.2_Stop_Codon_Del	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.*121fs?(1)		breast(1)|large_intestine(2)|ovary(2)	5						AGAGAGTGGCTACTTCTCTGC	0.542																																																1	Deletion - Frameshift(1)	ovary(1)	18											30	34	32					18																	72103737		1949	4142	6091	70254717	SO:0001567	stop_retained_variant	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"chromosome 18 open reading frame 51"	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	Exception_encountered	18.37:g.72103737delT	Exception_encountered		70254717		Frame_Shift_Del	DEL	ENST00000343998.6	37	CCDS42445.2																																																																																				0.542	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931		-	72103737	T	-	72103737	7	5	188	1	0	1	0	1	0	0	0	0	5604	1535	53	0	4	0	FAM69C	18	72103737	Stop_Codon_Del	DEL	T	TCGA-23-1120-01A-02W-0484-10	28607665	72103737	5973511	96	10752											
GADD45B	4616	hgsc.bcm.edu	37	19	2477147	2477148	+	Frame_Shift_Ins	INS	-	-	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr19:2477147_2477148insG	ENST00000215631.4	+	3	499_500	c.267_268insG	c.(268-270)gtgfs	p.V90fs	GADD45B_ENST00000587345.1_Frame_Shift_Ins_p.V90fs	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	90					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V90fs*>72(1)		cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATCAACATCGTGCGGGTGTC	0.624											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Insertion - Frameshift(1)	ovary(1)	19																																								2428148	SO:0001589	frameshift_variant	4616			AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"myeloid differentiation primary response", "growth arrest and DNA-damage-inducible beta"	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.268dupG	19.37:g.2477148_2477148dupG	ENSP00000215631:p.Val90fs	603	2428147	A8KAM2|O75960|Q17R46	Frame_Shift_Ins	INS	ENST00000215631.4	37	CCDS32868.1																																																																																				0.624	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451337.1	NM_015675		G	2477148	-	G	2477147	7	5	188	1	0	1	1	0	0	0	0	0	6182	874	31	0	277	0	GADD45B	19	2477147	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10		2477147	56651836	97	10753											
TNPO2	30000	hgsc.bcm.edu	37	19	12825707	12825708	+	Frame_Shift_Ins	INS	-	-	CGTTG			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr19:12825707_12825708insCGTTG	ENST00000592287.1	-	9	925_926	c.817_818insCAACG	c.(817-819)gagfs	p.E273fs	TNPO2_ENST00000425528.1_Frame_Shift_Ins_p.E273fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.E273fs|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.E273fs|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.E273fs|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.E273fs	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	273					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.E273fs*9(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCACAGGCCTCAAGGGCAACG	0.629																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								12686708	SO:0001589	frameshift_variant	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.817_818insCAACG	19.37:g.12825707_12825708insCGTTG	ENSP00000468434:p.Glu273fs		12686707	O14655|Q6IN77	Frame_Shift_Ins	INS	ENST00000592287.1	37	CCDS45991.1																																																																																				0.629	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		CGTTG	12825708	-	CGTTG	12825707	7	5	188	1	0	1	1	0	0	0	0	0	16336	1551	54	0	1939	0	TNPO2	19	12825707	Frame_Shift_Ins	INS	-	TCGA-23-1120-01A-02W-0484-10	10348560	12825707	46303276	98	10754											
PIK3R2	5296	hgsc.bcm.edu	37	19	18272834	18272835	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr19:18272834_18272835delTT	ENST00000593731.1	+	7	1434_1435	c.874_875delTT	c.(874-876)ttgfs	p.L292fs	PIK3R2_ENST00000222254.8_Frame_Shift_Del_p.L292fs			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	292	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.L292fs*13(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	TCAGGAACACTTGGAAGAGCAG	0.614																																																1	Deletion - Frameshift(1)	ovary(1)	19																																								18133835	SO:0001589	frameshift_variant	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.874_875delTT	19.37:g.18272834_18272835delTT	ENSP00000471914:p.Leu292fs		18133834	Q5EAT5|Q9UPH9	Frame_Shift_Del	DEL	ENST00000593731.1	37	CCDS12371.1																																																																																				0.614	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		-	18272835	TT	-	18272834	7	5	188	1	0	1	0	1	0	0	0	0	11919	1606	56	0	896	0	PIK3R2	19	18272834	Frame_Shift_Del	DEL	TT	TCGA-23-1120-01A-02W-0484-10	5447127	18272834	40856149	99	10755											
CRLF1	9244	hgsc.bcm.edu	37	19	18707727	18707728	+	Frame_Shift_Del	DEL	CG	CG	-	rs137853145		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr19:18707727_18707728delCG	ENST00000392386.3	-	5	1022_1023	c.829_830delCG	c.(829-831)cgafs	p.R277fs	CRLF1_ENST00000594325.1_5'Flank	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	277	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R277fs*52(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTCCTCCACTCGGTAGCGGATC	0.668																																																1	Deletion - Frameshift(1)	ovary(1)	19	GRCh37	CM086806	CRLF1	M	rs137853145																																			18568728	SO:0001589	frameshift_variant	9244			AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.829_830delCG	19.37:g.18707727_18707728delCG	ENSP00000376188:p.Arg277fs		18568727	Q9UHH5	Frame_Shift_Del	DEL	ENST00000392386.3	37	CCDS32962.1																																																																																				0.668	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			-	18707728	CG	-	18707727	7	5	188	1	0	1	0	1	0	0	0	0	3886	884	31	0	458	0	CRLF1	19	18707727	Frame_Shift_Del	DEL	CG	TCGA-23-1120-01A-02W-0484-10	434893	18707727	40421256	100	10756											
BLOC1S3	388552	hgsc.bcm.edu	37	19	45683137	45683137	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr19:45683137delG	ENST00000433642.2	+	2	679	c.583delG	c.(583-585)gagfs	p.E195fs	TRAPPC6A_ENST00000006275.4_5'Flank|AC005779.2_ENST00000593083.1_Frame_Shift_Del_p.E20fs|TRAPPC6A_ENST00000592647.1_5'Flank|TRAPPC6A_ENST00000585934.1_5'Flank|TRAPPC6A_ENST00000588062.1_5'Flank|BLOC1S3_ENST00000587722.1_Frame_Shift_Del_p.E195fs	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	195					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133)		p.E195fs*>8(1)		ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GACCGAGCCTGAGAAAGACCC	0.672									Hermansky-Pudlak syndrome																																							1	Deletion - Frameshift(1)	ovary(1)	19											23	24	23					19																	45683137		1868	3724	5592	50374977	SO:0001589	frameshift_variant	388552	Familial Cancer Database	HPS, HPS1-8	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114		"Biogenesis of lysosomal organelles complex-1 subunits"	20914	protein-coding gene	gene with protein product	"BLOC-1 subunit 3", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 3", "Hermansky-Pudlak syndrome 8"	609762				15102850	Standard	NM_212550		Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.583delG	19.37:g.45683137delG	ENSP00000393840:p.Glu195fs		50374977	B2RXB8	Frame_Shift_Del	DEL	ENST00000433642.2	37	CCDS12656.1																																																																																				0.672	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457559.1	NM_212550		-	45683137	G	-	45683137	7	5	188	1	0	1	0	1	0	0	0	0	1450	1291	45	0	585	0	BLOC1S3	19	45683137	Frame_Shift_Del	DEL	G	TCGA-23-1120-01A-02W-0484-10	26975410	45683137	13445846	101	10757											
MARK4	57787	hgsc.bcm.edu	37	19	45783675	45783675	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr19:45783675G>T	ENST00000262891.4	+	11	1381	c.1050G>T	c.(1048-1050)gaG>gaT	p.E350D	MARK4_ENST00000300843.4_Missense_Mutation_p.E350D	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	350	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.E350D(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AAATCAAAGAGTCCTTGACCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											137	132	134					19																	45783675		2203	4300	6503	50475515	SO:0001583	missense	57787			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1050G>T	19.37:g.45783675G>T	ENSP00000262891:p.Glu350Asp		50475515	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	3.135	-0.177575	0.06380	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.23552	1.9;1.9	5.16	4.12	0.48240	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);	0.063428	0.64402	D	0.000010	T	0.07908	0.0198	N	0.02973	-0.45	0.36626	D	0.876031	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.0	T	0.22556	-1.0213	10	0.02654	T	1	.	6.3205	0.21215	0.0919:0.0:0.7258:0.1823	.	216;350;350	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	D	380;350;350	ENSP00000262891:E350D;ENSP00000300843:E350D	ENSP00000262891:E350D	E	+	3	2	MARK4	50475515	0.878000	0.30173	1.000000	0.80357	0.996000	0.88848	0.017000	0.13399	1.406000	0.46857	0.561000	0.74099	GAG		0.577	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		T	45783675	G	T	45783675	3	4	188	1	0	0	0	0	1	0	0	0	9315	1020	36	3	1092	3	MARK4	19	45783675	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10	100538	45783675	13345308	102	10758											
CCDC155	147872	hgsc.bcm.edu	37	19	49897817	49897817	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr19:49897817C>T	ENST00000447857.3	+	3	333	c.128C>T	c.(127-129)gCt>gTt	p.A43V		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	43						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A43V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACGTTCGAAGCTTGTGACCCT	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											76	79	78					19																	49897817		2080	4214	6294	54589629	SO:0001583	missense	147872				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.128C>T	19.37:g.49897817C>T	ENSP00000404220:p.Ala43Val		54589629	Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502741	0.85176	.	.	ENSG00000161609	ENST00000447857	T	0.63255	-0.03	4.96	4.96	0.65561	EF-hand-like domain (1);	0.141423	0.43579	D	0.000548	T	0.77824	0.4188	M	0.76574	2.34	0.35849	D	0.826601	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	D	0.83499	0.0074	10	0.54805	T	0.06	-19.1132	14.0553	0.64764	0.0:1.0:0.0:0.0	.	43;43;123	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	V	43	ENSP00000404220:A43V	ENSP00000404220:A43V	A	+	2	0	CCDC155	54589629	0.993000	0.37304	0.999000	0.59377	0.897000	0.52465	3.750000	0.55157	2.465000	0.83290	0.462000	0.41574	GCT		0.632	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		T	49897817	C	T	49897817	3	4	188	1	0	0	0	0	1	0	0	0	2788	797	28	2	134	2	CCDC155	19	49897817	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	4114142	49897817	9231166	103	10759											
HAO1	54363	hgsc.bcm.edu	37	20	7915282	7915282	+	Splice_Site	SNP	T	T	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr20:7915282T>A	ENST00000378789.3	-	2	189	c.138A>T	c.(136-138)agA>agT	p.R46S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	46	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.R46S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAGCTTCCATCTAGaattaa	0.343																																																1	Substitution - Missense(1)	ovary(1)	20											29	26	27					20																	7915282		2203	4300	6503	7863282	SO:0001630	splice_region_variant	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.138-1A>T	20.37:g.7915282T>A			7863282	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533310	0.85812	.	.	ENSG00000101323	ENST00000378789	T	0.31510	1.49	5.93	-3.38	0.04883	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.039322	0.85682	N	0.000000	T	0.41096	0.1144	L	0.55834	1.745	0.58432	D	0.999992	D;D	0.63046	0.992;0.992	D;D	0.63793	0.918;0.918	T	0.36504	-0.9745	10	0.59425	D	0.04	.	11.7172	0.51661	0.0:0.4954:0.0:0.5046	.	46;46	A8K058;Q9UJM8	.;HAOX1_HUMAN	S	46	ENSP00000368066:R46S	ENSP00000368066:R46S	R	-	3	2	HAO1	7863282	0.471000	0.25862	0.987000	0.45799	0.968000	0.65278	-0.451000	0.06795	-0.396000	0.07703	0.533000	0.62120	AGA		0.343	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		Missense_Mutation	A	7915282	T	A	7915282	5	1	188	1	0	0	0	0	0	0	1	0	6951	1449	50	5	1002	5	HAO1	20	7915282	Splice_Site	SNP	T	TCGA-23-1120-01A-02W-0484-10		7915282	55110238	104	10760											
CST9	128822	hgsc.bcm.edu	37	20	23584223	23584223	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr20:23584223C>G	ENST00000376971.3	-	2	415	c.404G>C	c.(403-405)aGc>aCc	p.S135T		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	135						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S135T(1)		central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					GCATCCACAGCTGTGGACCTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	20											166	133	144					20																	23584223		2203	4300	6503	23532223	SO:0001583	missense	128822			AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.404G>C	20.37:g.23584223C>G	ENSP00000366170:p.Ser135Thr		23532223	B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	4.345	0.063468	0.08388	.	.	ENSG00000173335	ENST00000376971	D	0.93076	-3.16	2.19	-2.0	0.07433	.	0.701100	0.11723	N	0.535658	T	0.80984	0.4729	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.10450	0.005	T	0.66748	-0.5845	10	0.14656	T	0.56	.	7.6236	0.28200	0.0:0.5363:0.0:0.4637	.	135	Q5W186	CST9_HUMAN	T	135	ENSP00000366170:S135T	ENSP00000366170:S135T	S	-	2	0	CST9	23532223	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.030000	0.12308	-0.957000	0.03627	-1.134000	0.01955	AGC		0.527	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		G	23584223	C	G	23584223	3	3	188	1	0	0	0	0	1	0	0	0	3979	797	28	3	79	3	CST9	20	23584223	Missense_Mutation	SNP	C	TCGA-23-1120-01A-02W-0484-10	15668941	23584223	39441297	105	10761											
MOCS3	8813	hgsc.bcm.edu	37	20	49575905	49575905	+	5'Flank	SNP	G	G	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr20:49575905G>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000466152.1_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.V176L	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.V176L(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						ATATGATGTGGTGGCTGACTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	20											75	70	71					20																	49575905		2203	4300	6503	49009312	SO:0001631	upstream_gene_variant	27304			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575905G>T	Exception_encountered		49009312	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076460	0.94000	.	.	ENSG00000124217	ENST00000244051	T	0.54479	0.57	5.6	5.6	0.85130	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.063541	0.64402	D	0.000006	T	0.77831	0.4189	M	0.89968	3.075	0.80722	D	1	D	0.71674	0.998	D	0.66084	0.941	T	0.81597	-0.0860	9	.	.	.	-18.8689	19.1951	0.93684	0.0:0.0:1.0:0.0	.	176	O95396	MOCS3_HUMAN	L	176	ENSP00000244051:V176L	.	V	+	1	0	MOCS3	49009312	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	5.098000	0.64548	2.640000	0.89533	0.561000	0.74099	GTG		0.637	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		T	49575905	G	T	49575905	1	4	188	0	1	0	0	0	0	0	0	0	9692	1261	44	3		3	MOCS3	20	49575905	5'Flank	SNP	G	TCGA-23-1120-01A-02W-0484-10	25991682	49575905	13449615	106	10762											
SLCO4A1	28231	hgsc.bcm.edu	37	20	61299403	61299403	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr20:61299403T>A	ENST00000370507.1	+	8	1774	c.1678T>A	c.(1678-1680)Tct>Act	p.S560T	RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.S560T|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	560					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S560T(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAATCTTTCCTCTGGTTTTGG	0.498											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)											1	Substitution - Missense(1)	ovary(1)	20											180	174	176					20																	61299403		2203	4300	6503	60769848	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1678T>A	20.37:g.61299403T>A	ENSP00000359538:p.Ser560Thr	1052	60769848	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	T	9.585	1.124542	0.20959	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.39787	1.06;1.06	4.22	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.915506	0.08762	U	0.897602	T	0.32882	0.0844	L	0.46670	1.46	0.32232	N	0.573803	B	0.10296	0.003	B	0.14023	0.01	T	0.38950	-0.9637	10	0.15952	T	0.53	.	4.866	0.13609	0.0:0.1746:0.0:0.8254	.	560	Q96BD0	SO4A1_HUMAN	T	560;560;560;412	ENSP00000217159:S560T;ENSP00000359538:S560T	ENSP00000217159:S560T	S	+	1	0	SLCO4A1	60769848	0.167000	0.22975	0.999000	0.59377	0.879000	0.50718	-0.225000	0.09151	1.759000	0.51996	0.482000	0.46254	TCT		0.498	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		A	61299403	T	A	61299403	3	1	188	1	0	0	0	0	1	0	0	0	14732	1551	54	5	1708	5	SLCO4A1	20	61299403	Missense_Mutation	SNP	T	TCGA-23-1120-01A-02W-0484-10	11723498	61299403	1726117	107	10763											
BPIL2	254240	hgsc.bcm.edu	37	22	32815387	32815387	+	Missense_Mutation	SNP	G	G	A	rs376981555		TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chr22:32815387G>A	ENST00000397452.1	-	13	1332	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	BPIFC_ENST00000432451.2_Missense_Mutation_p.R165C|BPIFC_ENST00000534972.1_Missense_Mutation_p.R132C|BPIFC_ENST00000300399.3_Missense_Mutation_p.R408C			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	408						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.R408C(1)									AAAGCAAGGCGGAATCTAAAA	0.383																																																1	Substitution - Missense(1)	ovary(1)	22						G	CYS/ARG	0,4406		0,0,2203	101	104	103		1222	4.9	1	22		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFC	NM_174932.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	408/508	32815387	1,13005	2203	4300	6503	31145387	SO:0001583	missense	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1222C>T	22.37:g.32815387G>A	ENSP00000380594:p.Arg408Cys		31145387	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822349	0.71028	0.0	1.16E-4	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	4.87	4.87	0.63330	.	0.571361	0.19698	N	0.108115	T	0.28067	0.0692	M	0.75447	2.3	0.45161	D	0.998174	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.971	T	0.01036	-1.1473	10	0.66056	D	0.02	-6.5261	13.5063	0.61485	0.0:0.0:1.0:0.0	.	165;408	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	C	408;408;132;165	ENSP00000380594:R408C;ENSP00000300399:R408C;ENSP00000439123:R132C;ENSP00000408920:R165C	ENSP00000300399:R408C	R	-	1	0	BPIFC	31145387	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.393000	0.59665	2.238000	0.73509	0.455000	0.32223	CGC		0.383	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		A	32815387	G	A	32815387	3	1	188	1	0	0	0	0	1	0	0	0	1492	1116	39	1	317	1	BPIL2	22	32815387	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10		32815387	18489179	108	10764											
AFF2	2334	hgsc.bcm.edu	37	X	148049172	148049172	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1120-01A-02W-0484-10	TCGA-23-1120-10A-01W-0484-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	dac1d202-260b-4460-9f5c-ee1901a8fc22	78cfabcc-6888-48a4-9d1b-7edc747554dd	g.chrX:148049172G>T	ENST00000370460.2	+	15	3696	c.3217G>T	c.(3217-3219)Gat>Tat	p.D1073Y	AFF2_ENST00000286437.5_Missense_Mutation_p.D714Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D1038Y|AFF2_ENST00000342251.3_Missense_Mutation_p.D1040Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1073					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.D1073Y(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCACAATGCTGATTATTACAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	X											144	131	136					X																	148049172		2203	4300	6503	147856866	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3217G>T	X.37:g.148049172G>T	ENSP00000359489:p.Asp1073Tyr		147856866	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658168	0.88154	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.89798	0.6819	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.995;0.999;0.997;0.999;0.999;1.0	D	0.91106	0.4918	10	0.87932	D	0	.	18.9066	0.92464	0.0:0.0:1.0:0.0	.	714;1038;1038;1034;1063;1073	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	1073;1038;1040;714	ENSP00000359489:D1073Y;ENSP00000359486:D1038Y;ENSP00000345459:D1040Y;ENSP00000286437:D714Y	ENSP00000286437:D714Y	D	+	1	0	AFF2	147856866	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.822000	0.99363	2.412000	0.81896	0.523000	0.50628	GAT		0.338	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	148049172	G	T	148049172	3	4	188	1	0	0	0	0	1	0	0	0	357	1290	45	3	3330	3	AFF2	23	148049172	Missense_Mutation	SNP	G	TCGA-23-1120-01A-02W-0484-10		148049172	7221388	109	10765											
MTOR	2475	broad.mit.edu	37	1	11307883	11307883	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:11307883A>T	ENST00000361445.4	-	7	1185	c.1109T>A	c.(1108-1110)tTt>tAt	p.F370Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	370	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.F370Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TACCTGATCAAATTTCTCCTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											61	66	64					1																	11307883		2203	4300	6503	11230470	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1109T>A	1.37:g.11307883A>T	ENSP00000354558:p.Phe370Tyr		11230470	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529328	0.44969	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.66280	-0.2	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	L	0.28014	0.82	0.80722	D	1	B	0.15141	0.012	B	0.11329	0.006	T	0.43988	-0.9357	10	0.02654	T	1	-6.1107	16.0546	0.80788	1.0:0.0:0.0:0.0	.	370	P42345	MTOR_HUMAN	Y	370	ENSP00000354558:F370Y	ENSP00000354558:F370Y	F	-	2	0	MTOR	11230470	1.000000	0.71417	0.981000	0.43875	0.965000	0.64279	8.923000	0.92808	2.191000	0.70037	0.528000	0.53228	TTT		0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11307883	A	T	11307883	3	4	189	1	0	0	0	0	1	0	0	0	9954	14	1	5	6748	5	MTOR	1	11307883	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08		11307883	237942738	1	10766											
HDAC1	3065	broad.mit.edu	37	1	32768246	32768246	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:32768246G>C	ENST00000373548.3	+	2	158	c.74G>C	c.(73-75)gGa>gCa	p.G25A	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	25	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G25A(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TACTATTATGGACAAGGCCAC	0.438																																																1	Substitution - Missense(1)	ovary(1)	1											125	109	114					1																	32768246		2203	4300	6503	32540833	SO:0001583	missense	3065			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.74G>C	1.37:g.32768246G>C	ENSP00000362649:p.Gly25Ala		32540833	Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	CCDS360.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429924	0.96131	.	.	ENSG00000116478	ENST00000373548;ENST00000428704	T;T	0.68624	-0.34;-0.34	5.43	5.43	0.79202	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	H	0.94183	3.505	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.68943	0.622;0.961	D	0.89742	0.3934	10	0.62326	D	0.03	-11.8068	19.275	0.94027	0.0:0.0:1.0:0.0	.	25;25	B4DSK9;Q13547	.;HDAC1_HUMAN	A	25	ENSP00000362649:G25A;ENSP00000407859:G25A	ENSP00000362649:G25A	G	+	2	0	HDAC1	32540833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.140000	0.94607	2.738000	0.93877	0.650000	0.86243	GGA		0.438	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		C	32768246	G	C	32768246	3	2	189	1	0	0	0	0	1	0	0	0	7004	1174	41	3	80	3	HDAC1	1	32768246	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	21460363	32768246	216482375	2	10767											
EIF2C1	26523	broad.mit.edu	37	1	36367660	36367660	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:36367660T>C	ENST00000373204.4	+	10	1465	c.1252T>C	c.(1252-1254)Tac>Cac	p.Y418H	AGO1_ENST00000373206.1_Missense_Mutation_p.Y343H	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	418					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y418H(1)									CATCTTGCAGTACGGCGGCCG	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											56	61	59					1																	36367660		2203	4300	6503	36140247	SO:0001583	missense	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1252T>C	1.37:g.36367660T>C	ENSP00000362300:p.Tyr418His		36140247	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964341	0.92791	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.06687	3.27;3.27	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	M	0.93808	3.46	0.80722	D	1	D	0.65815	0.995	D	0.67900	0.954	T	0.52823	-0.8524	10	0.87932	D	0	-25.8524	16.6093	0.84858	0.0:0.0:0.0:1.0	.	418	Q9UL18	AGO1_HUMAN	H	343;418	ENSP00000362302:Y343H;ENSP00000362300:Y418H	ENSP00000362300:Y418H	Y	+	1	0	EIF2C1	36140247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	TAC		0.587	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			C	36367660	T	C	36367660	3	2	189	1	0	0	0	0	1	0	0	0	5005	1638	57	4	1290	4	EIF2C1	1	36367660	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	3599414	36367660	212882961	3	10768											
KIF2C	11004	broad.mit.edu	37	1	45213058	45213058	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:45213058T>G	ENST00000372224.4	+	3	281	c.168T>G	c.(166-168)atT>atG	p.I56M	KIF2C_ENST00000372217.1_Missense_Mutation_p.I2M|KIF2C_ENST00000372222.3_5'UTR|KIF2C_ENST00000372218.4_Missense_Mutation_p.I56M|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	56	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.I56M(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CCTTGCAGATTGATTTTGATG	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											120	117	118					1																	45213058		2203	4300	6503	44985645	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.168T>G	1.37:g.45213058T>G	ENSP00000361298:p.Ile56Met		44985645	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	t	19.07	3.755452	0.69648	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372217	T;T;T;T;T	0.81078	0.53;-1.45;-1.26;0.14;-1.15	6.07	3.61	0.41365	.	0.224883	0.43260	D	0.000599	D	0.86104	0.5853	M	0.75085	2.285	0.80722	D	1	P;P;D	0.53312	0.895;0.836;0.959	P;P;P	0.59595	0.625;0.577;0.86	D	0.86619	0.1878	10	0.87932	D	0	.	10.1186	0.42607	0.2667:0.0:0.0:0.7333	.	56;2;56	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	M	56;56;56;47;2	ENSP00000410346:I56M;ENSP00000361298:I56M;ENSP00000361292:I56M;ENSP00000395050:I47M;ENSP00000361291:I2M	ENSP00000361291:I2M	I	+	3	3	KIF2C	44985645	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.355000	0.44107	1.093000	0.41377	0.533000	0.62120	ATT		0.373	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		G	45213058	T	G	45213058	3	3	189	1	0	0	0	0	1	0	0	0	8299	1800	63	5	178	5	KIF2C	1	45213058	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	8845398	45213058	204037563	4	10769											
NBPF14	25832	broad.mit.edu	37	1	148004589	148004589	+	Missense_Mutation	SNP	G	G	A	rs148079257	byFrequency	TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:148004589G>A	ENST00000369219.1	-	22	2741	c.2725C>T	c.(2725-2727)Ctc>Ttc	p.L909F				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	909	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L909F(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					ACCAGGTGGAGACTTGTCACC	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											59	87	78					1																	148004589		2036	4211	6247	146471213	SO:0001583	missense	25832			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2725C>T	1.37:g.148004589G>A	ENSP00000358221:p.Leu909Phe		146471213	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	g	4.096	0.015819	0.07959	.	.	ENSG00000122497	ENST00000369219;ENST00000369368	T	0.04502	3.61	0.512	0.512	0.16994	DUF1220 (1);	.	.	.	.	T	0.03348	0.0097	L	0.48642	1.525	0.09310	N	1	B;D;D	0.56035	0.446;0.974;0.97	B;P;P	0.51806	0.058;0.497;0.68	T	0.41324	-0.9515	8	0.66056	D	0.02	.	.	.	.	.	257;890;909	F8WEX8;B4DH59;Q5TI25	.;.;NBPFE_HUMAN	F	909;257	ENSP00000358221:L909F	ENSP00000358221:L909F	L	-	1	0	NBPF14	146471213	0.892000	0.30473	0.002000	0.10522	0.006000	0.05464	0.775000	0.26689	0.585000	0.29608	0.433000	0.28618	CTC		0.468	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		A	148004589	G	A	148004589	3	1	189	1	0	0	0	0	1	0	0	0	10194	942	33	2	44	2	NBPF14	1	148004589	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	102791531	148004589	101246032	5	10770											
POGZ	23126	broad.mit.edu	37	1	151400883	151400883	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:151400883C>T	ENST00000271715.2	-	6	889	c.575G>A	c.(574-576)gGt>gAt	p.G192D	POGZ_ENST00000491586.1_Missense_Mutation_p.G139D|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.G192D|POGZ_ENST00000531094.1_Missense_Mutation_p.G139D|POGZ_ENST00000368863.2_Missense_Mutation_p.G97D|POGZ_ENST00000361398.3_Missense_Mutation_p.G139D|POGZ_ENST00000392723.1_Missense_Mutation_p.G139D	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	192					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G192D(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAACTGGGTACCTGGGGCTTT	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											127	137	134					1																	151400883		2203	4300	6503	149667507	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.575G>A	1.37:g.151400883C>T	ENSP00000271715:p.Gly192Asp		149667507	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188619	0.78789	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	T;T;T;T;T;T;T	0.03920	4.29;4.21;4.29;5.26;4.19;5.37;3.76	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.07503	0.0189	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.996;1.0;0.999;0.998;0.998;0.999	T	0.42155	-0.9468	10	0.72032	D	0.01	-14.1448	17.436	0.87552	0.0:1.0:0.0:0.0	.	139;192;97;192;139;139;192	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	D	139;192;139;97;192;139;139;192	ENSP00000376484:G139D;ENSP00000271715:G192D;ENSP00000354467:G139D;ENSP00000357856:G97D;ENSP00000386836:G192D;ENSP00000431259:G139D;ENSP00000418408:G139D	ENSP00000271715:G192D	G	-	2	0	POGZ	149667507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.481000	0.66826	2.696000	0.92011	0.467000	0.42956	GGT		0.498	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		T	151400883	C	T	151400883	3	4	189	1	0	0	0	0	1	0	0	0	12186	507	18	2	3727	2	POGZ	1	151400883	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	3396294	151400883	97849738	6	10771											
C1orf125	126859	broad.mit.edu	37	1	179347861	179347861	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:179347861A>T	ENST00000367618.3	+	5	851	c.464A>T	c.(463-465)cAg>cTg	p.Q155L	AXDND1_ENST00000457238.2_Missense_Mutation_p.Q155L|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	155								p.Q155L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CGTTCATTACAGTCACATGAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											118	97	104					1																	179347861		2203	4300	6503	177614484	SO:0001583	missense	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.464A>T	1.37:g.179347861A>T	ENSP00000356590:p.Gln155Leu		177614484	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450359	0.26074	.	.	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000457238;ENST00000511889;ENST00000434088	T;T;T	0.45668	2.19;0.89;2.21	3.56	2.39	0.29439	.	1.066530	0.07255	N	0.866526	T	0.32224	0.0822	L	0.47716	1.5	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.25291	0.059;0.026	T	0.18808	-1.0325	10	0.30078	T	0.28	-1.2528	6.8382	0.23947	0.7608:0.2392:0.0:0.0	.	113;155	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	L	113;155;113;155;113;89	ENSP00000356590:Q155L;ENSP00000416712:Q155L;ENSP00000391716:Q89L	ENSP00000353471:Q113L	Q	+	2	0	AXDND1	177614484	0.070000	0.21116	0.002000	0.10522	0.249000	0.25844	2.261000	0.43276	0.697000	0.31718	0.383000	0.25322	CAG		0.363	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		T	179347861	A	T	179347861	3	4	189	1	0	0	0	0	1	0	0	0	1993	188	7	5	478	5	C1orf125	1	179347861	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08	27946978	179347861	69902760	7	10772											
DDX59	83479	broad.mit.edu	37	1	200619725	200619725	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:200619725A>G	ENST00000331314.6	-	5	1355	c.1142T>C	c.(1141-1143)aTt>aCt	p.I381T	DDX59_ENST00000447706.2_Missense_Mutation_p.I381T|DDX59_ENST00000367348.3_Missense_Mutation_p.I381T	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	381	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.I381T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGAAACCAAAATGGTCTGACA	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											98	91	93					1																	200619725		2203	4300	6503	198886348	SO:0001583	missense	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1142T>C	1.37:g.200619725A>G	ENSP00000330460:p.Ile381Thr		198886348	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773522	0.69992	.	.	ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000331314;ENST00000433235;ENST00000453944	T;T;T;T;T;T	0.48522	2.15;3.38;2.15;2.15;3.38;0.81	5.75	5.75	0.90469	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.239170	0.41605	D	0.000845	T	0.47322	0.1439	L	0.42744	1.35	0.53005	D	0.999967	P;B	0.37688	0.605;0.316	B;B	0.40782	0.34;0.259	T	0.50608	-0.8808	10	0.72032	D	0.01	-3.4623	16.0479	0.80734	1.0:0.0:0.0:0.0	.	381;381	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	T	381;19;381;381;24;24	ENSP00000394367:I381T;ENSP00000394304:I19T;ENSP00000356317:I381T;ENSP00000330460:I381T;ENSP00000409954:I24T;ENSP00000398152:I24T	ENSP00000330460:I381T	I	-	2	0	DDX59	198886348	1.000000	0.71417	0.496000	0.27539	0.996000	0.88848	9.281000	0.95811	2.195000	0.70347	0.467000	0.42956	ATT		0.363	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		G	200619725	A	G	200619725	3	3	189	1	0	0	0	0	1	0	0	0	4376	101	4	4	733	4	DDX59	1	200619725	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08	21271864	200619725	48630896	8	10773											
C1orf106	55765	broad.mit.edu	37	1	200876999	200876999	+	Silent	SNP	G	G	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:200876999G>T	ENST00000367342.4	+	6	1013	c.813G>T	c.(811-813)ggG>ggT	p.G271G	C1orf106_ENST00000413687.2_Silent_p.G186G	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	271								p.G271G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGTCAGATGGGCTCCTCCTGG	0.507																																																1	Substitution - coding silent(1)	ovary(1)	1											118	109	112					1																	200876999		2203	4300	6503	199143622	SO:0001819	synonymous_variant	55765			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.813G>T	1.37:g.200876999G>T			199143622	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37																																																																																					0.507	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		T	200876999	G	T	200876999	2	4	189	1	0	0	0	0	0	0	0	1	1980	1190	42	3		3	C1orf106	1	200876999	Silent	SNP	G	TCGA-23-1122-01A-01W-0486-08	257274	200876999	48373622	9	10774											
PRELP	5549	broad.mit.edu	37	1	203452815	203452815	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:203452815C>T	ENST00000343110.2	+	2	630	c.503C>T	c.(502-504)gCc>gTc	p.A168V		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	168					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.A168V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCCCTCGGCCCTGCCCCGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											72	76	75					1																	203452815		2203	4300	6503	201719438	SO:0001583	missense	5549			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.503C>T	1.37:g.203452815C>T	ENSP00000343924:p.Ala168Val		201719438	Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041823	0.35989	.	.	ENSG00000188783	ENST00000343110	T	0.04317	3.65	4.59	4.59	0.56863	.	0.283074	0.33534	N	0.004810	T	0.03915	0.0110	L	0.38953	1.18	0.09310	N	1	B	0.31581	0.329	B	0.28465	0.09	T	0.39187	-0.9626	10	0.30078	T	0.28	-10.3697	6.0043	0.19537	0.19:0.7125:0.0:0.0975	.	168	P51888	PRELP_HUMAN	V	168	ENSP00000343924:A168V	ENSP00000343924:A168V	A	+	2	0	PRELP	201719438	0.000000	0.05858	0.889000	0.34880	0.965000	0.64279	0.038000	0.13862	2.110000	0.64415	0.462000	0.41574	GCC		0.587	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		T	203452815	C	T	203452815	3	4	189	1	0	0	0	0	1	0	0	0	12476	739	26	2	505	2	PRELP	1	203452815	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	2575816	203452815	45797806	10	10775											
EPHX1	2052	broad.mit.edu	37	1	226030165	226030165	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr1:226030165G>A	ENST00000366837.4	+	7	1226	c.1030G>A	c.(1030-1032)Ggc>Agc	p.G344S	EPHX1_ENST00000272167.5_Missense_Mutation_p.G344S|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	344					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.G344S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGAGGATGGAGGCCTGGAAAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											94	104	101					1																	226030165		2203	4300	6503	224096788	SO:0001583	missense	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1030G>A	1.37:g.226030165G>A	ENSP00000355802:p.Gly344Ser		224096788	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431858	0.96150	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.61627	0.09;0.09	5.19	5.19	0.71726	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78411	-0.2214	10	0.66056	D	0.02	-12.171	19.084	0.93194	0.0:0.0:1.0:0.0	.	344	P07099	HYEP_HUMAN	S	344	ENSP00000272167:G344S;ENSP00000355802:G344S	ENSP00000272167:G344S	G	+	1	0	EPHX1	224096788	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.707000	0.98725	2.575000	0.86900	0.561000	0.74099	GGC		0.557	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		A	226030165	G	A	226030165	3	1	189	1	0	0	0	0	1	0	0	0	5179	1000	35	2	1052	2	EPHX1	1	226030165	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	22577350	226030165	23220456	11	10776											
KLF11	8462	broad.mit.edu	37	2	10186296	10186296	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr2:10186296G>A	ENST00000305883.1	+	2	224	c.62G>A	c.(61-63)tGt>tAt	p.C21Y	KLF11_ENST00000540845.1_Missense_Mutation_p.C4Y|KLF11_ENST00000535335.1_Missense_Mutation_p.C4Y	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	21					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.C21Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		ATGGACATATGTGAGTCCATC	0.502																																					Melanoma(56;431 1507 23687 50789)											1	Substitution - Missense(1)	ovary(1)	2											127	106	113					2																	10186296		2203	4300	6503	10103747	SO:0001583	missense	8462			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.62G>A	2.37:g.10186296G>A	ENSP00000307023:p.Cys21Tyr		10103747	B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216595	0.58452	.	.	ENSG00000172059	ENST00000401510;ENST00000305883;ENST00000448523;ENST00000540845;ENST00000440320;ENST00000535335	T;T;T;T;T;T	0.66460	-0.21;2.39;-0.15;2.39;-0.19;2.39	5.31	5.31	0.75309	.	0.044597	0.85682	D	0.000000	T	0.73329	0.3573	L	0.55834	1.745	0.52099	D	0.999949	D	0.76494	0.999	D	0.79784	0.993	T	0.68138	-0.5488	10	0.13470	T	0.59	.	10.1852	0.42993	0.123:0.0:0.877:0.0	.	21	O14901	KLF11_HUMAN	Y	4;21;4;4;4;4	ENSP00000386058:C4Y;ENSP00000307023:C21Y;ENSP00000387866:C4Y;ENSP00000444690:C4Y;ENSP00000388263:C4Y;ENSP00000442722:C4Y	ENSP00000307023:C21Y	C	+	2	0	KLF11	10103747	0.993000	0.37304	0.984000	0.44739	0.987000	0.75469	2.742000	0.47434	2.469000	0.83416	0.462000	0.41574	TGT		0.502	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		A	10186296	G	A	10186296	3	1	189	1	0	0	0	0	1	0	0	0	8339	1377	48	2	68	2	KLF11	2	10186296	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08		10186296	233013077	12	10777											
ITSN2	50618	broad.mit.edu	37	2	24524840	24524840	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr2:24524840G>C	ENST00000355123.4	-	10	1432	c.989C>G	c.(988-990)tCt>tGt	p.S330C	ITSN2_ENST00000361999.3_Missense_Mutation_p.S330C|ITSN2_ENST00000406921.3_Missense_Mutation_p.S330C	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	330	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.S329C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACCTGAAAGATGGAGGAAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	2											101	88	93					2																	24524840		2203	4300	6503	24378344	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.989C>G	2.37:g.24524840G>C	ENSP00000347244:p.Ser330Cys		24378344	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574337	0.65878	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.25	4.25	0.50352	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.33980	U	0.004370	T	0.72875	0.3515	M	0.94021	3.485	0.52501	D	0.999956	D;D;D;P	0.89917	1.0;1.0;1.0;0.94	D;D;D;P	0.83275	0.991;0.991;0.996;0.907	T	0.79769	-0.1664	10	0.45353	T	0.12	.	17.2187	0.86951	0.0:0.0:1.0:0.0	.	330;330;330;330	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	C	330;330;330;354;330;355	ENSP00000354561:S330C;ENSP00000347244:S330C;ENSP00000370250:S330C;ENSP00000384499:S330C;ENSP00000391224:S355C	ENSP00000347244:S330C	S	-	2	0	ITSN2	24378344	1.000000	0.71417	0.956000	0.39512	0.549000	0.35272	7.407000	0.80029	2.376000	0.81061	0.491000	0.48974	TCT		0.423	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		C	24524840	G	C	24524840	3	2	189	1	0	0	0	0	1	0	0	0	7927	942	33	3	4279	3	ITSN2	2	24524840	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	14338544	24524840	218674533	13	10778											
NEB	4703	broad.mit.edu	37	2	152397960	152397960	+	Splice_Site	DEL	C	C	-			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	-	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr2:152397960delC	ENST00000172853.10	-	108	15727		c.e108+1		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.?(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGAGCTTACCTGACTCTGA	0.507																																																1	Unknown(1)	ovary(1)	2											100	98	98					2																	152397960		2049	4202	6251	152106206	SO:0001630	splice_region_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15579+1G>-	2.37:g.152397960delC			152106206	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	DEL	ENST00000172853.10	37																																																																																					0.507	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Intron	-	152397960	C	-	152397960	8	5	189	1	0	1	0	1	0	0	1	0	10302	521	18	0	5191	0	NEB	2	152397960	Splice_Site	DEL	C	TCGA-23-1122-01A-01W-0486-08	127873120	152397960	90801413	14	10779											
TTN	7273	broad.mit.edu	37	2	179485181	179485181	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr2:179485181T>G	ENST00000591111.1	-	198	41368	c.41144A>C	c.(41143-41145)cAc>cCc	p.H13715P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H15356P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12788P|TTN_ENST00000359218.5_Missense_Mutation_p.H6416P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H6291P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H6483P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13715	Ig-like 93.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H6291P(1)|p.H12788P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTAACATGTGCTTGTACTT	0.418																																																2	Substitution - Missense(2)	ovary(2)	2											164	161	162					2																	179485181		1933	4126	6059	179193426	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41144A>C	2.37:g.179485181T>G	ENSP00000465570:p.His13715Pro		179193426	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	8.630	0.893515	0.17613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67040	0.2851	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.70898	-0.4747	9	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	6291;6416;6483;13715	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	12788;6291;6483;6416;6291	ENSP00000343764:H12788P;ENSP00000434586:H6291P;ENSP00000340554:H6483P;ENSP00000352154:H6416P	ENSP00000340554:H6483P	H	-	2	0	TTN	179193426	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	7.991000	0.88244	2.308000	0.77769	0.533000	0.62120	CAC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179485181	T	G	179485181	3	3	189	1	0	0	0	0	1	0	0	0	16735	1696	59	5	62086	5	TTN	2	179485181	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	27087221	179485181	63714192	15	10780											
TTN	7273	broad.mit.edu	37	2	179485250	179485250	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr2:179485250T>A	ENST00000591111.1	-	198	41299	c.41075A>T	c.(41074-41076)aAg>aTg	p.K13692M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K15333M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K12765M|TTN_ENST00000359218.5_Missense_Mutation_p.K6393M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K6268M|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K6460M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13692	Ig-like 93.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K12765M(1)|p.K6268M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGTCCACTTCAGTGTTAC	0.403																																																2	Substitution - Missense(2)	ovary(2)	2											136	128	130					2																	179485250		1938	4131	6069	179193495	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41075A>T	2.37:g.179485250T>A	ENSP00000465570:p.Lys13692Met		179193495	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.41	1.930367	0.34096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62816	0.2459	L	0.47016	1.485	0.36228	D	0.852473	B;B;B;B	0.28128	0.201;0.201;0.201;0.201	B;B;B;B	0.33620	0.167;0.167;0.167;0.167	T	0.70121	-0.4959	9	0.87932	D	0	.	11.4123	0.49933	0.1347:0.0:0.0:0.8653	.	6268;6393;6460;13692	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	12765;6268;6460;6393;6268	ENSP00000343764:K12765M;ENSP00000434586:K6268M;ENSP00000340554:K6460M;ENSP00000352154:K6393M	ENSP00000340554:K6460M	K	-	2	0	TTN	179193495	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	3.966000	0.56795	2.254000	0.74563	0.460000	0.39030	AAG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179485250	T	A	179485250	3	1	189	1	0	0	0	0	1	0	0	0	16735	1609	56	5	62155	5	TTN	2	179485250	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	69	179485250	63714123	16	10781											
PDCD1	5133	broad.mit.edu	37	2	242794952	242794952	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr2:242794952C>G	ENST00000334409.5	-	2	326	c.257G>C	c.(256-258)cGc>cCc	p.R86P		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	86	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.R86P(1)		endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGGCTGGCTGCGGTCCTCGGG	0.647																																																1	Substitution - Missense(1)	ovary(1)	2											45	44	44					2																	242794952		2203	4300	6503	242443625	SO:0001583	missense	5133			AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	8760	protein-coding gene	gene with protein product		600244	"systemic lupus erythematosus susceptibility 2"	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.257G>C	2.37:g.242794952C>G	ENSP00000335062:p.Arg86Pro		242443625	O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	12.12	1.841230	0.32513	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.22336	1.96	3.38	-4.02	0.04034	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	2.336870	0.01232	N	0.008396	T	0.26048	0.0635	L	0.59436	1.845	0.09310	N	1	P;P	0.42518	0.782;0.782	P;P	0.46885	0.53;0.53	T	0.29366	-1.0014	10	0.34782	T	0.22	-0.4601	4.8651	0.13604	0.0:0.2175:0.3086:0.4739	.	86;86	Q8IX89;Q15116	.;PDCD1_HUMAN	P	86	ENSP00000335062:R86P	ENSP00000335062:R86P	R	-	2	0	PDCD1	242443625	0.000000	0.05858	0.000000	0.03702	0.800000	0.45204	-1.437000	0.02419	-1.010000	0.03396	-0.265000	0.10407	CGC		0.647	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		G	242794952	C	G	242794952	3	3	189	1	0	0	0	0	1	0	0	0	11615	768	27	3	625	3	PDCD1	2	242794952	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	63309702	242794952	404421	17	10782											
ZNF620	253639	broad.mit.edu	37	3	40553904	40553904	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr3:40553904A>T	ENST00000314529.6	+	4	312	c.163A>T	c.(163-165)Acc>Tcc	p.T55S	ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T55S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATTCCCATTCACCACGCCTGT	0.562																																																1	Substitution - Missense(1)	ovary(1)	3											78	76	77					3																	40553904		2203	4300	6503	40528908	SO:0001583	missense	253639			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"Zinc fingers, C2H2-type", "-"	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.163A>T	3.37:g.40553904A>T	ENSP00000322265:p.Thr55Ser		40528908	Q8N223	Missense_Mutation	SNP	ENST00000314529.6	37	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	A	0.196	-1.048973	0.01981	.	.	ENSG00000177842	ENST00000420891;ENST00000314529	T;T	0.00745	5.75;5.75	2.19	-0.499	0.12015	Krueppel-associated box (3);	.	.	.	.	T	0.00356	0.0011	N	0.02830	-0.485	0.09310	N	0.999999	B	0.20887	0.049	B	0.19666	0.026	T	0.43048	-0.9415	9	0.02654	T	1	.	3.898	0.09147	0.3456:0.4387:0.0:0.2156	.	55	Q6ZNG0	ZN620_HUMAN	S	55	ENSP00000406156:T55S;ENSP00000322265:T55S	ENSP00000322265:T55S	T	+	1	0	ZNF620	40528908	0.000000	0.05858	0.019000	0.16419	0.160000	0.22226	-3.075000	0.00616	-0.121000	0.11787	0.455000	0.32223	ACC		0.562	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060		T	40553904	A	T	40553904	3	4	189	1	0	0	0	0	1	0	0	0	18044	159	6	5	173	5	ZNF620	3	40553904	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08		40553904	157468526	18	10783											
DNAH1	25981	broad.mit.edu	37	3	52394004	52394004	+	Missense_Mutation	SNP	G	G	T	rs369984253		TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr3:52394004G>T	ENST00000420323.2	+	27	4741	c.4480G>T	c.(4480-4482)Gtc>Ttc	p.V1494F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1494	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1494F(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCGCTAATCGTCATTGAGGT	0.567																																																1	Substitution - Missense(1)	ovary(1)	3											165	172	170					3																	52394004		2159	4263	6422	52369044	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4480G>T	3.37:g.52394004G>T	ENSP00000401514:p.Val1494Phe		52369044	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093525	0.76756	.	.	ENSG00000114841	ENST00000420323	T	0.59083	0.29	5.13	5.13	0.70059	.	0.000000	0.46758	D	0.000266	D	0.85195	0.5641	H	0.97540	4.025	0.49130	D	0.999758	D	0.89917	1.0	D	0.83275	0.996	D	0.90370	0.4380	10	0.87932	D	0	.	18.7672	0.91878	0.0:0.0:1.0:0.0	.	1494	C9JXH6	.	F	1494	ENSP00000401514:V1494F	ENSP00000401514:V1494F	V	+	1	0	DNAH1	52369044	1.000000	0.71417	0.959000	0.39883	0.798000	0.45092	4.661000	0.61518	2.677000	0.91161	0.561000	0.74099	GTC		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52394004	G	T	52394004	3	4	189	1	0	0	0	0	1	0	0	0	4597	1145	40	3	4582	3	DNAH1	3	52394004	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	11840100	52394004	145628426	19	10784											
ITIH1	3697	broad.mit.edu	37	3	52814369	52814369	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr3:52814369A>T	ENST00000273283.2	+	6	682	c.658A>T	c.(658-660)Act>Tct	p.T220S	ITIH1_ENST00000542827.1_Missense_Mutation_p.T220S|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.T78S|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	220					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T220S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGCAGCCCAAACTATCAAGAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											42	42	42					3																	52814369		2203	4300	6503	52789409	SO:0001583	missense	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.658A>T	3.37:g.52814369A>T	ENSP00000273283:p.Thr220Ser		52789409	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888508	0.52014	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02177	4.41;4.9;4.77	6.07	-3.47	0.04753	.	0.885724	0.10177	N	0.706335	T	0.01287	0.0042	N	0.16233	0.39	0.09310	N	0.999995	B	0.26120	0.142	B	0.26614	0.071	T	0.47971	-0.9075	10	0.41790	T	0.15	-6.5651	0.9806	0.01435	0.3858:0.24:0.1099:0.2643	.	220	P19827	ITIH1_HUMAN	S	220;220;78	ENSP00000442584:T220S;ENSP00000273283:T220S;ENSP00000443973:T78S	ENSP00000273283:T220S	T	+	1	0	ITIH1	52789409	0.063000	0.20901	0.023000	0.16930	0.967000	0.64934	0.536000	0.23129	-0.007000	0.14345	0.533000	0.62120	ACT		0.537	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		T	52814369	A	T	52814369	3	4	189	1	0	0	0	0	1	0	0	0	7903	43	2	5	680	5	ITIH1	3	52814369	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08	420365	52814369	145208061	20	10785											
ALCAM	214	broad.mit.edu	37	3	105266316	105266316	+	Silent	SNP	A	A	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr3:105266316A>G	ENST00000306107.5	+	11	1823	c.1323A>G	c.(1321-1323)ccA>ccG	p.P441P	ALCAM_ENST00000472644.2_Silent_p.P441P|ALCAM_ENST00000389927.4_Silent_p.P163P|ALCAM_ENST00000486979.2_Silent_p.P390P	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	441	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.P441P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAGGTTTTCCAAAGCCAGCCA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	3											94	89	91					3																	105266316		2203	4298	6501	106749006	SO:0001819	synonymous_variant	214			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1323A>G	3.37:g.105266316A>G			106749006	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	A	0.856	-0.736964	0.03111	.	.	ENSG00000170017	ENST00000465413	.	.	.	5.46	1.72	0.24424	.	.	.	.	.	T	0.53610	0.1807	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43605	-0.9381	4	.	.	.	-9.8939	6.1457	0.20285	0.5567:0.2083:0.235:0.0	.	.	.	.	E	202	.	.	K	+	1	0	ALCAM	106749006	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	0.847000	0.27696	0.457000	0.26962	0.383000	0.25322	AAA		0.373	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		G	105266316	A	G	105266316	2	3	189	1	0	0	0	0	0	0	0	1	487	117	5	4		4	ALCAM	3	105266316	Silent	SNP	A	TCGA-23-1122-01A-01W-0486-08	52451947	105266316	92756114	21	10786											
BBX	56987	broad.mit.edu	37	3	107497277	107497277	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr3:107497277C>T	ENST00000325805.8	+	13	2401	c.2114C>T	c.(2113-2115)cCt>cTt	p.P705L	BBX_ENST00000416476.2_Silent_p.L369L|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000406780.1_Missense_Mutation_p.P705L|BBX_ENST00000415149.2_Missense_Mutation_p.P705L|BBX_ENST00000402543.1_Missense_Mutation_p.P705L			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	705	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.P705L(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)			CAATATAGTCCTGTTACATTT	0.418																																																1	Substitution - Missense(1)	ovary(1)	3											96	96	96					3																	107497277		2203	4300	6503	108979967	SO:0001583	missense	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.2114C>T	3.37:g.107497277C>T	ENSP00000319974:p.Pro705Leu		108979967	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145413	0.94603	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.71241	-0.4651	10	0.87932	D	0	-9.5728	20.327	0.98704	0.0:1.0:0.0:0.0	.	705;705	Q8WY36;Q8WY36-2	BBX_HUMAN;.	L	705	ENSP00000408358:P705L;ENSP00000385317:P705L;ENSP00000319974:P705L;ENSP00000385530:P705L	ENSP00000319974:P705L	P	+	2	0	BBX	108979967	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.487000	0.81328	2.794000	0.96219	0.650000	0.86243	CCT		0.418	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		T	107497277	C	T	107497277	3	4	189	1	0	0	0	0	1	0	0	0	1343	681	24	2	2152	2	BBX	3	107497277	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	2230961	107497277	90525153	22	10787											
HTR3E	285242	broad.mit.edu	37	3	183819289	183819289	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr3:183819289T>C	ENST00000415389.2	+	3	717	c.251T>C	c.(250-252)cTc>cCc	p.L84P	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Intron|HTR3E_ENST00000335304.2_Missense_Mutation_p.L99P|HTR3E_ENST00000440596.2_Intron|HTR3E_ENST00000425359.2_Intron	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	84					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.L99P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGCTGCACCTCTTGTCATCA	0.393																																					Melanoma(7;227 727 6634 44770)											1	Substitution - Missense(1)	ovary(1)	3											222	212	216					3																	183819289		2203	4300	6503	185301983	SO:0001583	missense	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.251T>C	3.37:g.183819289T>C	ENSP00000401444:p.Leu84Pro		185301983	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	t	15.89	2.967702	0.53507	.	.	ENSG00000186038	ENST00000415389;ENST00000335304;ENST00000431041	T;T;T	0.78481	-1.18;-1.18;-1.18	3.8	3.8	0.43715	Neurotransmitter-gated ion-channel ligand-binding (3);	0.232575	0.27331	U	0.019844	D	0.87164	0.6109	M	0.84846	2.72	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69479	0.964;0.939	D	0.88614	0.3158	10	0.87932	D	0	.	10.8206	0.46601	0.0:0.0:0.0:1.0	.	84;99	A5X5Y0;A5X5Y0-3	5HT3E_HUMAN;.	P	84;99;13	ENSP00000401444:L84P;ENSP00000335511:L99P;ENSP00000391254:L13P	ENSP00000335511:L99P	L	+	2	0	HTR3E	185301983	0.980000	0.34600	1.000000	0.80357	0.819000	0.46315	3.761000	0.55242	1.713000	0.51359	0.533000	0.62120	CTC		0.393	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		C	183819289	T	C	183819289	3	2	189	1	0	0	0	0	1	0	0	0	7448	1551	54	4	302	4	HTR3E	3	183819289	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	76322012	183819289	14203141	23	10788											
CLDN16	10686	broad.mit.edu	37	3	190126232	190126232	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr3:190126232C>A	ENST00000264734.2	+	4	970	c.722C>A	c.(721-723)gCt>gAt	p.A241D	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	241					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.A241D(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTCGGAATGGCTGGGTCTCTG	0.388																																																1	Substitution - Missense(1)	ovary(1)	3											169	164	166					3																	190126232		2203	4300	6503	191608926	SO:0001583	missense	10686			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.722C>A	3.37:g.190126232C>A	ENSP00000264734:p.Ala241Asp		191608926		Missense_Mutation	SNP	ENST00000264734.2	37	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644750	0.87859	.	.	ENSG00000113946	ENST00000264734	D	0.90133	-2.62	5.6	5.6	0.85130	.	0.316082	0.31323	N	0.007846	D	0.93884	0.8043	M	0.78049	2.395	0.80722	D	1	P	0.50369	0.934	P	0.52909	0.713	D	0.94413	0.7633	10	0.87932	D	0	-17.2997	18.5954	0.91228	0.0:1.0:0.0:0.0	.	241	Q9Y5I7	CLD16_HUMAN	D	241	ENSP00000264734:A241D	ENSP00000264734:A241D	A	+	2	0	CLDN16	191608926	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.010000	0.57117	2.624000	0.88883	0.557000	0.71058	GCT		0.388	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		A	190126232	C	A	190126232	3	1	189	1	0	0	0	0	1	0	0	0	3477	797	28	3	736	3	CLDN16	3	190126232	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	6306943	190126232	7896198	24	10789											
GRID2	2895	broad.mit.edu	37	4	94137990	94137990	+	Silent	SNP	G	G	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr4:94137990G>T	ENST00000282020.4	+	6	1149	c.891G>T	c.(889-891)cgG>cgT	p.R297R	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.R202R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	297					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.R297R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TAAGTCAGCGGTGTTTCCGTG	0.393																																																1	Substitution - coding silent(1)	ovary(1)	4											160	156	157					4																	94137990		2203	4300	6503	94357013	SO:0001819	synonymous_variant	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.891G>T	4.37:g.94137990G>T			94357013	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																				0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			T	94137990	G	T	94137990	2	4	189	1	0	0	0	0	0	0	0	1	6772	1248	44	3		3	GRID2	4	94137990	Silent	SNP	G	TCGA-23-1122-01A-01W-0486-08		94137990	97016286	25	10790											
ALPK1	80216	broad.mit.edu	37	4	113353419	113353419	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr4:113353419A>T	ENST00000458497.1	+	11	2995	c.2716A>T	c.(2716-2718)Act>Tct	p.T906S	ALPK1_ENST00000177648.9_Missense_Mutation_p.T906S|ALPK1_ENST00000504176.2_Missense_Mutation_p.T828S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	906							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T906S(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGAGGACTGCACTACCACAGA	0.537																																																1	Substitution - Missense(1)	ovary(1)	4											122	119	120					4																	113353419		2203	4300	6503	113572868	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2716A>T	4.37:g.113353419A>T	ENSP00000398048:p.Thr906Ser		113572868	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.202356	0.38905	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02525	4.33;4.33;4.26	5.47	-2.73	0.05950	.	0.648638	0.15215	N	0.274233	T	0.02455	0.0075	L	0.48642	1.525	0.09310	N	1	B;B;B	0.20052	0.041;0.01;0.024	B;B;B	0.16722	0.016;0.005;0.007	T	0.48139	-0.9061	10	0.12766	T	0.61	-4.7301	7.8153	0.29256	0.2665:0.0:0.5834:0.1502	.	828;828;906	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	S	906;906;828	ENSP00000398048:T906S;ENSP00000177648:T906S;ENSP00000426044:T828S	ENSP00000177648:T906S	T	+	1	0	ALPK1	113572868	0.001000	0.12720	0.237000	0.24090	0.914000	0.54420	0.100000	0.15231	-0.463000	0.06973	0.533000	0.62120	ACT		0.537	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		T	113353419	A	T	113353419	3	4	189	1	0	0	0	0	1	0	0	0	544	159	6	5	2750	5	ALPK1	4	113353419	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08	19215429	113353419	77800857	26	10791											
DCLK2	166614	broad.mit.edu	37	4	151160899	151160899	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr4:151160899T>G	ENST00000296550.7	+	11	2326	c.1572T>G	c.(1570-1572)tgT>tgG	p.C524W	DCLK2_ENST00000302176.8_Missense_Mutation_p.C541W|DCLK2_ENST00000506325.1_Missense_Mutation_p.C523W	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	524	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C524W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTCAGGTGTGTGAATATCCTG	0.428																																					GBM(195;186 2215 13375 16801 37459)											1	Substitution - Missense(1)	ovary(1)	4											129	131	130					4																	151160899		2203	4300	6503	151380349	SO:0001583	missense	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1572T>G	4.37:g.151160899T>G	ENSP00000296550:p.Cys524Trp		151380349	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090418	0.36855	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.65364	-0.15;-0.15;-0.15	5.84	2.13	0.27403	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096907	0.64402	D	0.000001	T	0.65709	0.2717	L	0.49571	1.57	0.80722	D	1	P;D;P	0.67145	0.905;0.996;0.727	P;P;P	0.59288	0.753;0.855;0.796	T	0.60490	-0.7253	10	0.38643	T	0.18	.	9.1366	0.36877	0.0:0.21:0.0:0.79	.	541;523;524	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	W	524;523;541	ENSP00000296550:C524W;ENSP00000427235:C523W;ENSP00000303887:C541W	ENSP00000296550:C524W	C	+	3	2	DCLK2	151380349	0.995000	0.38212	1.000000	0.80357	0.978000	0.69477	0.271000	0.18626	0.145000	0.18977	0.528000	0.53228	TGT		0.428	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		G	151160899	T	G	151160899	3	3	189	1	0	0	0	0	1	0	0	0	4292	1702	59	5	1614	5	DCLK2	4	151160899	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	37807480	151160899	39993377	27	10792											
WWC2	80014	broad.mit.edu	37	4	184190299	184190299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr4:184190299C>T	ENST00000403733.3	+	15	2582	c.2383C>T	c.(2383-2385)Cga>Tga	p.R795*	WWC2_ENST00000506225.1_3'UTR|WWC2_ENST00000504005.1_Nonsense_Mutation_p.R477*|WWC2_ENST00000378925.3_Intron|WWC2_ENST00000448232.2_Nonsense_Mutation_p.R795*|WWC2_ENST00000513834.1_Nonsense_Mutation_p.R746*	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	795	C2.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.R795*(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CAGTAAACACCGAAGGGAAGA	0.413																																																1	Substitution - Nonsense(1)	ovary(1)	4											78	76	76					4																	184190299		2203	4300	6503	184427293	SO:0001587	stop_gained	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2383C>T	4.37:g.184190299C>T	ENSP00000384222:p.Arg795*		184427293	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Nonsense_Mutation	SNP	ENST00000403733.3	37	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649584	0.87958	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005	.	.	.	5.35	3.6	0.41247	.	0.532203	0.18140	N	0.150455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-0.4876	10.1123	0.42570	0.1444:0.7849:0.0:0.0707	.	.	.	.	X	795;746;795;477	.	ENSP00000384222:R795X	R	+	1	2	WWC2	184427293	0.337000	0.24766	0.006000	0.13384	0.346000	0.29079	2.203000	0.42752	0.796000	0.33947	0.555000	0.69702	CGA		0.413	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		T	184190299	C	T	184190299	4	4	189	1	0	0	0	0	0	1	0	0	17412	644	23	1	2441	1	WWC2	4	184190299	Nonsense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	33029400	184190299	6963977	28	10793											
PCDHA10	56139	broad.mit.edu	37	5	140236992	140236992	+	Silent	SNP	G	G	A	rs372428918		TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr5:140236992G>A	ENST00000307360.5	+	1	1359	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A453A|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A453A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGT	0.677																																																2	Substitution - coding silent(2)	ovary(2)	5											101	94	97					5																	140236992		2196	4274	6470	140217176	SO:0001819	synonymous_variant	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1359G>A	5.37:g.140236992G>A			140217176	A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	CCDS54921.1																																																																																				0.677	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		A	140236992	G	A	140236992	2	1	189	1	0	0	0	0	0	0	0	1	11520	1132	40	1		1	PCDHA10	5	140236992	Silent	SNP	G	TCGA-23-1122-01A-01W-0486-08		140236992	40678268	29	10794											
BRPF3	27154	broad.mit.edu	37	6	36185695	36185695	+	Splice_Site	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr6:36185695C>T	ENST00000357641.6	+	9	3244	c.2991C>T	c.(2989-2991)ggC>ggT	p.G997G	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Splice_Site_p.G727G|BRPF3_ENST00000339717.7_Splice_Site_p.G727G|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Splice_Site_p.G997G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	997					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.G997G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTTGGCAGGCATGACCAACG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	6											148	122	131					6																	36185695		2203	4300	6503	36293673	SO:0001630	splice_region_variant	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2990-1C>T	6.37:g.36185695C>T			36293673	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	CCDS34437.1																																																																																				0.537	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	Silent	T	36185695	C	T	36185695	5	4	189	1	0	0	0	0	0	0	1	0	1521	724	25	2	3021	2	BRPF3	6	36185695	Splice_Site	SNP	C	TCGA-23-1122-01A-01W-0486-08		36185695	134929372	30	10795											
DNAH8	1769	broad.mit.edu	37	6	38919130	38919130	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr6:38919130A>T	ENST00000359357.3	+	80	11888	c.11634A>T	c.(11632-11634)agA>agT	p.R3878S	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4095S|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3842S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3878	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3878S(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCAAGCAAGAAAGTATATTG	0.373																																																1	Substitution - Missense(1)	ovary(1)	6											126	134	131					6																	38919130		2203	4300	6503	39027108	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11634A>T	6.37:g.38919130A>T	ENSP00000352312:p.Arg3878Ser		39027108	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	19.88	3.909261	0.72868	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.11277	2.79;3.06;3.06;3.06	5.6	3.21	0.36854	Dynein heavy chain (1);	0.048986	0.85682	D	0.000000	T	0.11153	0.0272	L	0.52364	1.645	0.51233	D	0.999912	D;D	0.67145	0.995;0.996	D;D	0.68039	0.925;0.955	T	0.04427	-1.0952	10	0.42905	T	0.14	.	5.4942	0.16793	0.6293:0.0:0.3707:0.0	.	3842;3878	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	S	4083;4083;3878;3842	ENSP00000415331:R4083S;ENSP00000333363:R4083S;ENSP00000352312:R3878S;ENSP00000402294:R3842S	ENSP00000333363:R4083S	R	+	3	2	DNAH8	39027108	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.370000	0.20433	1.049000	0.40321	0.533000	0.62120	AGA		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38919130	A	T	38919130	3	4	189	1	0	0	0	0	1	0	0	0	4607	243	9	5	11944	5	DNAH8	6	38919130	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08	2733435	38919130	132195937	31	10796											
TAF8	129685	broad.mit.edu	37	6	42045277	42045277	+	Silent	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr6:42045277C>T	ENST00000372977.3	+	9	945	c.927C>T	c.(925-927)ctC>ctT	p.L309L	TAF8_ENST00000456846.2_Intron|TAF8_ENST00000465926.1_Silent_p.L233L|TAF8_ENST00000372982.4_Intron|TAF8_ENST00000494547.1_3'UTR	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	309					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)		p.L309L(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CTAGGTCCCTCTCCTGAGCTG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	6											46	46	46					6																	42045277		1932	4129	6061	42153255	SO:0001819	synonymous_variant	129685			AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa", "taube nuss homolog (mouse)"	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.927C>T	6.37:g.42045277C>T			42153255	Q5T0K1|Q8N4R9|Q96M52	Silent	SNP	ENST00000372977.3	37	CCDS43462.1																																																																																				0.577	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572		T	42045277	C	T	42045277	2	4	189	1	0	0	0	0	0	0	0	1	15534	900	32	2		2	TAF8	6	42045277	Silent	SNP	C	TCGA-23-1122-01A-01W-0486-08	3126147	42045277	129069790	32	10797											
TDRD6	221400	broad.mit.edu	37	6	46658991	46658991	+	Silent	SNP	C	C	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr6:46658991C>G	ENST00000316081.6	+	1	3126	c.3126C>G	c.(3124-3126)gcC>gcG	p.A1042A	TDRD6_ENST00000544460.1_Silent_p.A1042A	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1042	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.A1042A(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTGCCTTGCCAAGTATACTG	0.343																																																1	Substitution - coding silent(1)	ovary(1)	6											70	75	73					6																	46658991		2203	4300	6503	46766950	SO:0001819	synonymous_variant	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3126C>G	6.37:g.46658991C>G			46766950	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	CCDS34470.1																																																																																				0.343	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		G	46658991	C	G	46658991	2	3	189	1	0	0	0	0	0	0	0	1	15734	581	21	3		3	TDRD6	6	46658991	Silent	SNP	C	TCGA-23-1122-01A-01W-0486-08	4613714	46658991	124456076	33	10798											
C6orf70	55780	broad.mit.edu	37	6	170168266	170168266	+	Splice_Site	SNP	T	T	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr6:170168266T>C	ENST00000366773.3	+	11	1091	c.1058T>C	c.(1057-1059)aTg>aCg	p.M353T	RP1-266L20.9_ENST00000586101.1_RNA|ERMARD_ENST00000392095.4_Splice_Site_p.M227T|ERMARD_ENST00000588451.1_Splice_Site_p.M217T|ERMARD_ENST00000366772.2_Splice_Site_p.M353T|ERMARD_ENST00000418781.3_Splice_Site_p.M353T	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	353					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.M353T(1)									GAGCCTGCTATGGTAAGTATT	0.328																																																1	Substitution - Missense(1)	ovary(1)	6											111	109	109					6																	170168266		2203	4300	6503	169910191	SO:0001630	splice_region_variant	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1059+1T>C	6.37:g.170168266T>C			169910191	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577798	0.45902	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.49432	0.79;0.78	5.1	5.1	0.69264	.	0.150630	0.46758	D	0.000263	T	0.64068	0.2565	M	0.80982	2.52	0.40748	D	0.98289	D;D;P	0.89917	1.0;0.999;0.651	D;D;B	0.83275	0.996;0.994;0.273	T	0.71283	-0.4639	10	0.87932	D	0	.	14.8493	0.70284	0.0:0.0:0.0:1.0	.	353;353;353	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	T	353;353;353;227;1	ENSP00000355735:M353T;ENSP00000375945:M227T	ENSP00000355733:M1T	M	+	2	0	C6orf70	169910191	1.000000	0.71417	0.992000	0.48379	0.865000	0.49528	4.675000	0.61619	2.059000	0.61396	0.533000	0.62120	ATG		0.328	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	Missense_Mutation	C	170168266	T	C	170168266	5	2	189	1	0	0	0	0	0	0	1	0	2370	1478	51	4	1100	4	C6orf70	6	170168266	Splice_Site	SNP	T	TCGA-23-1122-01A-01W-0486-08	123509275	170168266	946801	34	10799											
GHRHR	2692	broad.mit.edu	37	7	31013649	31013649	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr7:31013649A>C	ENST00000326139.2	+	7	693	c.647A>C	c.(646-648)aAc>aCc	p.N216T	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000409904.3_Missense_Mutation_p.N152T	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	216					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.N216T(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	ACCATGACCAACTTCAGCTGG	0.632																																																1	Substitution - Missense(1)	ovary(1)	7											82	79	80					7																	31013649		2203	4300	6503	30980174	SO:0001583	missense	2692				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.647A>C	7.37:g.31013649A>C	ENSP00000320180:p.Asn216Thr		30980174	Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	a	23.5	4.418380	0.83559	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.36340	1.26;1.26	5.13	5.13	0.70059	GPCR, family 2-like (1);	.	.	.	.	T	0.66752	0.2821	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74887	-0.3511	9	0.87932	D	0	.	12.965	0.58480	1.0:0.0:0.0:0.0	.	152;216	Q9HB45;Q02643	.;GHRHR_HUMAN	T	216;152	ENSP00000320180:N216T;ENSP00000387113:N152T	ENSP00000320180:N216T	N	+	2	0	GHRHR	30980174	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.325000	0.90007	2.155000	0.67459	0.524000	0.50904	AAC		0.632	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			C	31013649	A	C	31013649	3	2	189	1	0	0	0	0	1	0	0	0	6373	43	2	5	673	5	GHRHR	7	31013649	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08		31013649	128125014	35	10800											
SEMA3D	223117	broad.mit.edu	37	7	84636125	84636125	+	Missense_Mutation	SNP	C	C	G	rs370785183		TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr7:84636125C>G	ENST00000284136.6	-	16	1944	c.1901G>C	c.(1900-1902)cGa>cCa	p.R634P	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	634	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R634P(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TACCTCCTCTCGATGCTCATC	0.373																																					Ovarian(63;442 1191 17318 29975 31528)											1	Substitution - Missense(1)	ovary(1)	7											224	209	214					7																	84636125		2203	4299	6502	84474061	SO:0001583	missense	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1901G>C	7.37:g.84636125C>G	ENSP00000284136:p.Arg634Pro		84474061	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162163	0.38217	.	.	ENSG00000153993	ENST00000284136	T	0.66280	-0.2	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.808830	0.01029	N	0.004110	T	0.64516	0.2605	L	0.50333	1.59	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.30149	-0.9988	10	0.41790	T	0.15	.	13.6832	0.62499	0.0:0.9299:0.0:0.0701	.	634	O95025	SEM3D_HUMAN	P	634	ENSP00000284136:R634P	ENSP00000284136:R634P	R	-	2	0	SEMA3D	84474061	0.998000	0.40836	0.995000	0.50966	0.938000	0.57974	1.543000	0.36147	2.861000	0.98227	0.650000	0.86243	CGA		0.373	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		G	84636125	C	G	84636125	3	3	189	1	0	0	0	0	1	0	0	0	14030	884	31	3	440	3	SEMA3D	7	84636125	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	53622476	84636125	74502538	36	10801											
ADAM22	53616	broad.mit.edu	37	7	87763699	87763699	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr7:87763699T>C	ENST00000265727.7	+	13	1212	c.1133T>C	c.(1132-1134)aTt>aCt	p.I378T	ADAM22_ENST00000398209.3_Missense_Mutation_p.I378T|ADAM22_ENST00000315984.7_Missense_Mutation_p.I378T|ADAM22_ENST00000398201.4_Missense_Mutation_p.I378T|ADAM22_ENST00000398204.4_Missense_Mutation_p.I378T			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	378	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I378T(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCATAATATTGGTATTATC	0.289																																																2	Substitution - Missense(2)	ovary(2)	7											78	79	79					7																	87763699		1795	4066	5861	87601635	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1133T>C	7.37:g.87763699T>C	ENSP00000265727:p.Ile378Thr		87601635	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.572987	0.65765	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.157793	0.56097	D	0.000035	T	0.39517	0.1081	M	0.69823	2.125	0.58432	D	0.999999	P;B;B;B	0.39782	0.688;0.257;0.303;0.279	P;B;P;B	0.55545	0.778;0.424;0.56;0.345	T	0.15896	-1.0421	10	0.87932	D	0	.	15.7086	0.77606	0.0:0.0:0.0:1.0	.	430;378;378;378	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	T	378;378;378;378;378;345	ENSP00000381262:I378T;ENSP00000381260:I378T;ENSP00000265727:I378T;ENSP00000315900:I378T;ENSP00000381267:I378T;ENSP00000381261:I345T	ENSP00000265727:I378T	I	+	2	0	ADAM22	87601635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.293000	0.78740	2.113000	0.64589	0.528000	0.53228	ATT		0.289	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		C	87763699	T	C	87763699	3	2	189	1	0	0	0	0	1	0	0	0	244	1493	52	4	1183	4	ADAM22	7	87763699	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	3127574	87763699	71374964	37	10802											
ZNF804B	219578	broad.mit.edu	37	7	88963451	88963451	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr7:88963451T>A	ENST00000333190.4	+	4	1764	c.1155T>A	c.(1153-1155)gaT>gaA	p.D385E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	385							metal ion binding (GO:0046872)	p.D385E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATGCCTGGATGAGTTTTCAT	0.383										HNSCC(36;0.09)																																						1	Substitution - Missense(1)	ovary(1)	7											45	51	49					7																	88963451		2203	4300	6503	88801387	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1155T>A	7.37:g.88963451T>A	ENSP00000329638:p.Asp385Glu		88801387	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395366	0.25205	.	.	ENSG00000182348	ENST00000333190	T	0.04970	3.52	5.19	5.19	0.71726	.	0.333086	0.25900	N	0.027563	T	0.08670	0.0215	M	0.65975	2.015	0.29169	N	0.877267	B	0.32918	0.39	B	0.27380	0.079	T	0.07328	-1.0778	10	0.59425	D	0.04	-20.5529	10.4536	0.44537	0.1451:0.0:0.0:0.8549	.	385	A4D1E1	Z804B_HUMAN	E	385	ENSP00000329638:D385E	ENSP00000329638:D385E	D	+	3	2	ZNF804B	88801387	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.921000	0.40035	2.188000	0.69820	0.533000	0.62120	GAT		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		A	88963451	T	A	88963451	3	1	189	1	0	0	0	0	1	0	0	0	18171	1461	51	5	1169	5	ZNF804B	7	88963451	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	1199752	88963451	70175212	38	10803											
ACCN3	9311	broad.mit.edu	37	7	150747657	150747657	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr7:150747657C>T	ENST00000349064.5	+	3	973	c.775C>T	c.(775-777)Ccg>Tcg	p.P259S	ASIC3_ENST00000357922.4_Missense_Mutation_p.P259S|ASIC3_ENST00000297512.8_Missense_Mutation_p.P259S	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	259					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.P259S(1)									GGGGGTGTCCCCGGGCTACCA	0.612																																																1	Substitution - Missense(1)	ovary(1)	7											81	88	86					7																	150747657		2203	4300	6503	150378590	SO:0001583	missense	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.775C>T	7.37:g.150747657C>T	ENSP00000344838:p.Pro259Ser		150378590	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864831	0.71949	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.67698	-0.28;-0.28;-0.28	4.88	4.88	0.63580	.	0.000000	0.37906	U	0.001881	D	0.85106	0.5621	M	0.91249	3.19	0.58432	D	0.99999	D;P;D	0.89917	0.999;0.929;1.0	D;P;D	0.91635	0.976;0.834;0.999	D	0.88122	0.2832	10	0.59425	D	0.04	-11.9577	15.8774	0.79178	0.0:1.0:0.0:0.0	.	259;259;259	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	S	259	ENSP00000350600:P259S;ENSP00000344838:P259S;ENSP00000297512:P259S	ENSP00000297512:P259S	P	+	1	0	ACCN3	150378590	1.000000	0.71417	0.973000	0.42090	0.226000	0.24999	7.746000	0.85057	2.406000	0.81754	0.555000	0.69702	CCG		0.612	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		T	150747657	C	T	150747657	3	4	189	1	0	0	0	0	1	0	0	0	130	623	22	2	785	2	ACCN3	7	150747657	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	61784206	150747657	8391006	39	10804											
MYOM2	9172	broad.mit.edu	37	8	2063847	2063847	+	Silent	SNP	T	T	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr8:2063847T>A	ENST00000262113.4	+	26	3417	c.3276T>A	c.(3274-3276)atT>atA	p.I1092I	MYOM2_ENST00000523438.1_Silent_p.I517I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1092					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.I1092I(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTGCAGATTCATGATGGGA	0.368																																																1	Substitution - coding silent(1)	ovary(1)	8											163	154	157					8																	2063847		2203	4300	6503	2051254	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3276T>A	8.37:g.2063847T>A			2051254	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.368	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2063847	T	A	2063847	2	1	189	1	0	0	0	0	0	0	0	1	10092	1771	62	5		5	MYOM2	8	2063847	Silent	SNP	T	TCGA-23-1122-01A-01W-0486-08		2063847	144300175	40	10805											
CSMD1	64478	broad.mit.edu	37	8	2820040	2820040	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr8:2820040T>A	ENST00000520002.1	-	62	10134	c.9579A>T	c.(9577-9579)agA>agT	p.R3193S	CSMD1_ENST00000537824.1_Missense_Mutation_p.R3192S|CSMD1_ENST00000602557.1_Missense_Mutation_p.R3193S|CSMD1_ENST00000602723.1_Missense_Mutation_p.R3016S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R3016S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3015S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3193	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2921S(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)		GGCAGACTCTTCTGGAGGATC	0.493																																																1	Substitution - Missense(1)	ovary(1)	8											64	63	64					8																	2820040		1929	4129	6058	2807447	SO:0001583	missense	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.9579A>T	8.37:g.2820040T>A	ENSP00000430733:p.Arg3193Ser		2807447	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.987|3.987	-0.005333|-0.005333	0.07773|0.07773	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07	5.6|5.6	-5.66|-5.66	0.02451|0.02451	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.162286	.|0.43416	.|D	.|0.000571	.|T	.|0.53465	.|0.1798	N|N	0.11106|0.11106	0.095|0.095	0.37608|0.37608	D|D	0.920818|0.920818	.|D;B;B	.|0.64830	.|0.994;0.04;0.013	.|D;B;B	.|0.75020	.|0.985;0.074;0.02	.|T	.|0.62868	.|-0.6763	.|10	.|0.13470	.|T	.|0.59	.|.	15.8887|15.8887	0.79273|0.79273	0.0:0.5816:0.0:0.4184|0.0:0.5816:0.0:0.4184	.|.	.|3193;3193;3015	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	X|S	2610|3016;3193;3054;3192;3015	.|ENSP00000383047:R3016S;ENSP00000430733:R3193S;ENSP00000441462:R3192S;ENSP00000446243:R3015S	.|ENSP00000320445:R3054S	K|R	-|-	1|3	0|2	CSMD1|CSMD1	2807447|2807447	0.018000|0.018000	0.18449|0.18449	0.000000|0.000000	0.03702|0.03702	0.068000|0.068000	0.16541|0.16541	-0.251000|-0.251000	0.08818|0.08818	-1.493000|-1.493000	0.01835|0.01835	-0.256000|-0.256000	0.11100|0.11100	AAG|AGA		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2820040	T	A	2820040	3	1	189	1	0	0	0	0	1	0	0	0	3944	1780	62	5	1158	5	CSMD1	8	2820040	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	756193	2820040	143543982	41	10806											
PKHD1L1	93035	broad.mit.edu	37	8	110451188	110451188	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr8:110451188G>A	ENST00000378402.5	+	32	3927	c.3823G>A	c.(3823-3825)Gtg>Atg	p.V1275M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1275	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V1277M(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACATGGCGGTGTATGTTGG	0.338										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	ovary(1)	8																																								110520364	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3823G>A	8.37:g.110451188G>A	ENSP00000367655:p.Val1275Met		110520364	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379398	0.61845	.	.	ENSG00000205038	ENST00000378402	D	0.84442	-1.85	5.7	5.7	0.88788	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.93028	0.7781	M	0.89095	3.005	0.37311	D	0.909124	D	0.61080	0.989	P	0.62885	0.908	D	0.95211	0.8325	10	0.87932	D	0	.	17.338	0.87287	0.0:0.0:1.0:0.0	.	1275	Q86WI1	PKHL1_HUMAN	M	1275	ENSP00000367655:V1275M	ENSP00000367655:V1275M	V	+	1	0	PKHD1L1	110520364	1.000000	0.71417	0.173000	0.22940	0.375000	0.29983	6.377000	0.73145	2.689000	0.91719	0.655000	0.94253	GTG		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110451188	G	A	110451188	3	1	189	1	0	0	0	0	1	0	0	0	11972	1261	44	2	3949	2	PKHD1L1	8	110451188	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	107631148	110451188	35912834	42	10807											
CYP11B1	1584	broad.mit.edu	37	8	143957130	143957130	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr8:143957130C>A	ENST00000292427.4	-	6	1151	c.1119G>T	c.(1117-1119)ttG>ttT	p.L373F	CYP11B1_ENST00000377675.3_Missense_Mutation_p.L444F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.L373F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	373					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L373F(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCACCCACCGCAAGGTCTCCT	0.672									Familial Hyperaldosteronism type I																																							1	Substitution - Missense(1)	ovary(1)	8											44	46	46					8																	143957130		2203	4300	6503	143954132	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1119G>T	8.37:g.143957130C>A	ENSP00000292427:p.Leu373Phe		143954132	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	13.37	2.217377	0.39201	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;D;D;D	0.81659	-1.06;-1.52;-1.52;-1.52	4.42	3.47	0.39725	.	0.000000	0.39544	N	0.001325	D	0.87022	0.6074	M	0.80508	2.5	0.48975	D	0.999739	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.86104	0.1558	10	0.51188	T	0.08	.	5.9481	0.19229	0.19:0.7046:0.0:0.1054	.	444;373;373;373;89	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	F	28;373;373;444	ENSP00000430144:L28F;ENSP00000292427:L373F;ENSP00000428043:L373F;ENSP00000366903:L444F	ENSP00000292427:L373F	L	-	3	2	CYP11B1	143954132	0.990000	0.36364	0.986000	0.45419	0.226000	0.24999	0.305000	0.19254	2.169000	0.68431	0.555000	0.69702	TTG		0.672	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			A	143957130	C	A	143957130	3	1	189	1	0	0	0	0	1	0	0	0	4145	709	25	3	408	3	CYP11B1	8	143957130	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	33505942	143957130	2406892	43	10808											
KIAA1797	54914	broad.mit.edu	37	9	20953038	20953038	+	Missense_Mutation	SNP	G	G	A	rs535565536		TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr9:20953038G>A	ENST00000380249.1	+	37	4470	c.4106G>A	c.(4105-4107)gGc>gAc	p.G1369D	FOCAD_ENST00000605086.1_Missense_Mutation_p.G805D|FOCAD_ENST00000338382.6_Missense_Mutation_p.G1369D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1369						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.G1369D(1)									GCAGCTATTGGCTTCTTCATT	0.373																																																1	Substitution - Missense(1)	ovary(1)	9											121	116	118					9																	20953038		2203	4300	6503	20943038	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4106G>A	9.37:g.20953038G>A	ENSP00000369599:p.Gly1369Asp		20943038	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	3.777	-0.046472	0.07407	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.30182	1.54;1.54	6.07	4.02	0.46733	.	0.212156	0.47093	D	0.000249	T	0.09423	0.0232	N	0.02960	-0.455	0.33898	D	0.638131	B	0.09022	0.002	B	0.12156	0.007	T	0.26395	-1.0104	10	0.02654	T	1	-20.2164	5.0518	0.14513	0.3666:0.0:0.6334:0.0	.	1369	Q5VW36	K1797_HUMAN	D	1369	ENSP00000369599:G1369D;ENSP00000344307:G1369D	ENSP00000344307:G1369D	G	+	2	0	KIAA1797	20943038	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.711000	0.54868	1.577000	0.49804	0.655000	0.94253	GGC		0.373	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		A	20953038	G	A	20953038	3	1	189	1	0	0	0	0	1	0	0	0	8258	1203	42	2	4240	2	KIAA1797	9	20953038	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08		20953038	120260393	44	10809											
C10orf18	54906	broad.mit.edu	37	10	5790325	5790325	+	Silent	SNP	A	A	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr10:5790325A>C	ENST00000328090.5	+	15	5566	c.4941A>C	c.(4939-4941)acA>acC	p.T1647T		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1647								p.T1647T(1)									CTTATTCTACACAGGGATGCA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	10											61	63	62					10																	5790325		2115	4235	6350	5830331	SO:0001819	synonymous_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4941A>C	10.37:g.5790325A>C			5830331	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	CCDS41485.1																																																																																				0.458	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		C	5790325	A	C	5790325	2	2	189	1	0	0	0	0	0	0	0	1	1596	146	6	5		5	C10orf18	10	5790325	Silent	SNP	A	TCGA-23-1122-01A-01W-0486-08		5790325	129744422	45	10810											
FBXO18	84893	broad.mit.edu	37	10	5978419	5978419	+	Splice_Site	SNP	G	G	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr10:5978419G>C	ENST00000362091.4	+	20	2945	c.2830G>C	c.(2830-2832)Gag>Cag	p.E944Q	FBXO18_ENST00000397269.3_Splice_Site_p.E448Q|FBXO18_ENST00000379999.5_Splice_Site_p.E995Q|RP11-536K7.3_ENST00000397264.4_RNA	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	944					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.E995Q(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TCTTTCTCAGGAGTACTTCTT	0.522																																																1	Substitution - Missense(1)	ovary(1)	10											104	84	91					10																	5978419		2203	4300	6503	6018425	SO:0001630	splice_region_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2830-1G>C	10.37:g.5978419G>C			6018425	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537749	0.65085	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	4.75	4.75	0.60458	.	0.115763	0.56097	D	0.000028	T	0.53658	0.1810	L	0.29908	0.895	0.58432	D	0.999994	P;P;P	0.48089	0.813;0.883;0.905	P;B;P	0.48270	0.572;0.399;0.479	T	0.51585	-0.8687	8	.	.	.	-12.4049	16.946	0.86230	0.0:0.0:1.0:0.0	.	995;944;870	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Q	448;944;995	.	.	E	+	1	0	FBXO18	6018425	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	5.462000	0.66707	2.341000	0.79615	0.454000	0.30748	GAG		0.522	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	Missense_Mutation	C	5978419	G	C	5978419	5	2	189	1	0	0	0	0	0	0	1	0	5731	1188	41	3	3070	3	FBXO18	10	5978419	Splice_Site	SNP	G	TCGA-23-1122-01A-01W-0486-08	188094	5978419	129556328	46	10811											
GPAM	57678	broad.mit.edu	37	10	113933556	113933556	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr10:113933556C>A	ENST00000348367.4	-	7	658	c.461G>T	c.(460-462)gGt>gTt	p.G154V	GPAM_ENST00000423155.1_Missense_Mutation_p.G154V|GPAM_ENST00000369425.1_Missense_Mutation_p.G154V			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	154					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.G154V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CTGGGCAGAACCATCAGGGTT	0.403																																					Ovarian(161;1017 2606 18293 52943)											1	Substitution - Missense(1)	ovary(1)	10											99	87	91					10																	113933556		2203	4300	6503	113923546	SO:0001583	missense	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.461G>T	10.37:g.113933556C>A	ENSP00000265276:p.Gly154Val		113923546	Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401298	0.42613	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.71103	-0.54;-0.54;-0.53	6.02	5.06	0.68205	.	0.266734	0.41097	D	0.000944	T	0.66915	0.2838	L	0.58101	1.795	0.46823	D	0.999213	B;B	0.20671	0.047;0.019	B;B	0.21708	0.036;0.025	T	0.61088	-0.7133	10	0.27082	T	0.32	-22.6179	15.1506	0.72696	0.0:0.8598:0.1402:0.0	.	154;154	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	V	154	ENSP00000265276:G154V;ENSP00000409242:G154V;ENSP00000358433:G154V	ENSP00000265276:G154V	G	-	2	0	GPAM	113923546	0.881000	0.30235	0.975000	0.42487	0.741000	0.42261	2.007000	0.40883	2.857000	0.98124	0.650000	0.86243	GGT		0.403	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		A	113933556	C	A	113933556	3	1	189	1	0	0	0	0	1	0	0	0	6588	507	18	3	2089	3	GPAM	10	113933556	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	107955137	113933556	21601191	47	10812											
DMBT1	1755	broad.mit.edu	37	10	124377810	124377810	+	Silent	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr10:124377810C>T	ENST00000338354.3	+	38	4888	c.4782C>T	c.(4780-4782)ctC>ctT	p.L1594L	DMBT1_ENST00000330163.4_Silent_p.L966L|DMBT1_ENST00000368955.3_Silent_p.L1584L|DMBT1_ENST00000344338.3_Silent_p.L1584L|DMBT1_ENST00000368909.3_Silent_p.L1594L|DMBT1_ENST00000368956.2_Silent_p.L966L|DMBT1_ENST00000359586.6_Silent_p.L445L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1594	SRCR 12. {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.L1723L(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)				ATGGCTGGCTCTCCCACAACT	0.557																																					Ovarian(182;93 2026 18125 22222 38972)											1	Substitution - coding silent(1)	ovary(1)	10											82	81	81					10																	124377810		1922	4144	6066	124367800	SO:0001819	synonymous_variant	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.4782C>T	10.37:g.124377810C>T			124367800	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																					0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		T	124377810	C	T	124377810	2	4	189	1	0	0	0	0	0	0	0	1	4577	900	32	2		2	DMBT1	10	124377810	Silent	SNP	C	TCGA-23-1122-01A-01W-0486-08	10444254	124377810	11156937	48	10813											
CHRNA10	57053	broad.mit.edu	37	11	3687612	3687612	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr11:3687612A>G	ENST00000250699.2	-	5	1149	c.1078T>C	c.(1078-1080)Tcc>Ccc	p.S360P	CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	360					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)	p.S360P(1)		breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GGTGGCCTGGACTGCCCACAG	0.701																																					Melanoma(153;17 1869 2949 7120 36888)											1	Substitution - Missense(1)	ovary(1)	11											53	57	55					11																	3687612		2201	4297	6498	3644188	SO:0001583	missense	57053			AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1078T>C	11.37:g.3687612A>G	ENSP00000250699:p.Ser360Pro		3644188		Missense_Mutation	SNP	ENST00000250699.2	37	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	A	2.332	-0.353110	0.05173	.	.	ENSG00000129749	ENST00000250699	D	0.85484	-1.99	5.61	-3.39	0.04868	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.127130	0.02439	N	0.084345	T	0.64438	0.2598	N	0.02697	-0.525	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57493	-0.7802	10	0.16420	T	0.52	.	6.5739	0.22553	0.2469:0.4023:0.3508:0.0	.	360	Q9GZZ6	ACH10_HUMAN	P	360	ENSP00000250699:S360P	ENSP00000250699:S360P	S	-	1	0	CHRNA10	3644188	0.000000	0.05858	0.003000	0.11579	0.090000	0.18270	-0.373000	0.07494	-0.218000	0.10018	-0.366000	0.07423	TCC		0.701	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			G	3687612	A	G	3687612	3	3	189	1	0	0	0	0	1	0	0	0	3382	275	10	4	278	4	CHRNA10	11	3687612	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08		3687612	131318904	49	10814											
MRGPRX3	117195	broad.mit.edu	37	11	18159317	18159317	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr11:18159317G>T	ENST00000396275.2	+	3	929	c.568G>T	c.(568-570)Gtt>Ttt	p.V190F		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V190F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTATGTGTGGTTCTCTGTGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											142	132	135					11																	18159317		2200	4293	6493	18115893	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.568G>T	11.37:g.18159317G>T	ENSP00000379571:p.Val190Phe		18115893	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139508	0.37728	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.74002	-0.8;-0.8	1.46	-2.82	0.05787	GPCR, rhodopsin-like superfamily (1);	1.016490	0.07876	N	0.968818	D	0.85513	0.5714	M	0.92367	3.3	0.25011	N	0.991407	D	0.67145	0.996	D	0.71184	0.972	T	0.73636	-0.3920	10	0.87932	D	0	.	3.679	0.08304	0.3211:0.2105:0.4685:0.0	.	190	Q96LB0	MRGX3_HUMAN	F	190	ENSP00000379571:V190F;ENSP00000436242:V190F	ENSP00000379571:V190F	V	+	1	0	MRGPRX3	18115893	0.420000	0.25457	0.030000	0.17652	0.017000	0.09413	-0.327000	0.07955	-0.873000	0.04032	0.430000	0.28490	GTT		0.507	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		T	18159317	G	T	18159317	3	4	189	1	0	0	0	0	1	0	0	0	9768	1261	44	3	570	3	MRGPRX3	11	18159317	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	14471705	18159317	116847199	50	10815											
OR5M10	390167	broad.mit.edu	37	11	56344609	56344609	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr11:56344609T>A	ENST00000526812.2	-	1	654	c.589A>T	c.(589-591)Atg>Ttg	p.M197L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AACATTGCCATCTTTTTGACA	0.443																																																0			11											73	71	72					11																	56344609		1921	4114	6035	56101185	SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.589A>T	11.37:g.56344609T>A	ENSP00000436004:p.Met197Leu		56101185	B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.749438	0.00086	.	.	ENSG00000254834	ENST00000526812	T	0.00024	8.97	4.2	0.134	0.14771	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00630	-1.315	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38178	-0.9673	9	0.02654	T	1	.	1.3898	0.02248	0.144:0.1772:0.1483:0.5305	.	197	Q6IEU7	OR5MA_HUMAN	L	197	ENSP00000436004:M197L	ENSP00000436004:M197L	M	-	1	0	OR5M10	56101185	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.763000	0.04740	0.232000	0.21100	-0.283000	0.09986	ATG		0.443	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		A	56344609	T	A	56344609	3	1	189	1	0	0	0	0	1	0	0	0	11173	1435	50	5	362	5	OR5M10	11	56344609	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	38185292	56344609	78661907	51	10816											
SSH3	54961	broad.mit.edu	37	11	67075069	67075069	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr11:67075069G>T	ENST00000308127.4	+	7	830	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C	SSH3_ENST00000532181.1_Intron|SSH3_ENST00000308298.7_Missense_Mutation_p.G218C|SSH3_ENST00000376757.5_Missense_Mutation_p.G218C	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	218					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G218C(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTAGGCAGCGGCCTTGTACC	0.617																																																1	Substitution - Missense(1)	ovary(1)	11											54	56	55					11																	67075069		2200	4295	6495	66831645	SO:0001583	missense	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.652G>T	11.37:g.67075069G>T	ENSP00000312081:p.Gly218Cys		66831645	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506997	0.27036	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.31769	3.78;1.48;3.82	4.49	3.57	0.40892	.	0.305972	0.26153	N	0.026025	T	0.43523	0.1251	L	0.44542	1.39	0.28171	N	0.928589	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.951	T	0.30995	-0.9959	10	0.72032	D	0.01	-16.4393	10.2369	0.43288	0.1817:0.0:0.8183:0.0	.	72;218	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	C	218	ENSP00000312081:G218C;ENSP00000310055:G218C;ENSP00000365948:G218C	ENSP00000312081:G218C	G	+	1	0	SSH3	66831645	0.001000	0.12720	0.721000	0.30653	0.207000	0.24258	0.713000	0.25794	0.469000	0.27268	-1.644000	0.00765	GGC		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		T	67075069	G	T	67075069	3	4	189	1	0	0	0	0	1	0	0	0	15188	1116	39	3	678	3	SSH3	11	67075069	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	10730460	67075069	67931447	52	10817											
TYR	7299	broad.mit.edu	37	11	88911742	88911742	+	Silent	SNP	T	T	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr11:88911742T>C	ENST00000263321.5	+	1	1123	c.621T>C	c.(619-621)ttT>ttC	p.F207F	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	207					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.F207F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CACCAGCTTTTCTGCCTTGGC	0.458																																																1	Substitution - coding silent(1)	ovary(1)	11											157	151	153					11																	88911742		2201	4299	6500	88551390	SO:0001819	synonymous_variant	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.621T>C	11.37:g.88911742T>C			88551390	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	CCDS8284.1																																																																																				0.458	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		C	88911742	T	C	88911742	2	2	189	1	0	0	0	0	0	0	0	1	16813	1780	62	4		4	TYR	11	88911742	Silent	SNP	T	TCGA-23-1122-01A-01W-0486-08	21836673	88911742	46094774	53	10818											
MLL	4297	broad.mit.edu	37	11	118359387	118359387	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr11:118359387A>G	ENST00000389506.5	+	11	4391	c.4391A>G	c.(4390-4392)gAg>gGg	p.E1464G	KMT2A_ENST00000354520.4_Missense_Mutation_p.E1426G|KMT2A_ENST00000534358.1_Missense_Mutation_p.E1464G			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1464					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E1464G(1)									GAGGAGAACGAGCGCCCTCTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	11											134	121	125					11																	118359387		2200	4296	6496	117864597	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4391A>G	11.37:g.118359387A>G	ENSP00000374157:p.Glu1464Gly		117864597	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896118	0.72639	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.90955	-1.75;-1.75;-1.69;-2.76	5.52	5.52	0.82312	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	D	0.95450	0.8533	10	0.87932	D	0	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	1464;1464	E9PQG7;Q03164	.;MLL1_HUMAN	G	1464;1464;1426;374;176	ENSP00000436786:E1464G;ENSP00000374157:E1464G;ENSP00000346516:E1426G;ENSP00000376612:E176G	ENSP00000346516:E1426G	E	+	2	0	MLL	117864597	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.905000	0.92613	2.222000	0.72286	0.533000	0.62120	GAG		0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		G	118359387	A	G	118359387	3	3	189	1	0	0	0	0	1	0	0	0	9620	304	11	4	4433	4	MLL	11	118359387	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08	29447645	118359387	16647129	54	10819											
GUCY2C	2984	broad.mit.edu	37	12	14796586	14796586	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr12:14796586T>C	ENST00000261170.3	-	17	1988	c.1852A>G	c.(1852-1854)Acc>Gcc	p.T618A		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	618	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.T618A(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACGCAGTTGGTAGATTTCAGA	0.388																																																1	Substitution - Missense(1)	ovary(1)	12											160	152	154					12																	14796586		2203	4300	6503	14687853	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1852A>G	12.37:g.14796586T>C	ENSP00000261170:p.Thr618Ala		14687853	B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519930	0.85495	.	.	ENSG00000070019	ENST00000261170	D	0.82255	-1.59	5.47	5.47	0.80525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	N	0.05280	-0.08	0.80722	D	1	P	0.39696	0.683	P	0.47528	0.549	T	0.81351	-0.0972	10	0.66056	D	0.02	.	15.5397	0.76031	0.0:0.0:0.0:1.0	.	618	P25092	GUC2C_HUMAN	A	618	ENSP00000261170:T618A	ENSP00000261170:T618A	T	-	1	0	GUCY2C	14687853	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.250000	0.72435	2.060000	0.61445	0.528000	0.53228	ACC		0.388	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			C	14796586	T	C	14796586	3	2	189	1	0	0	0	0	1	0	0	0	6896	1638	57	4	1413	4	GUCY2C	12	14796586	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08		14796586	119055309	55	10820											
ZNF641	121274	broad.mit.edu	37	12	48739139	48739139	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr12:48739139A>G	ENST00000544117.2	-	4	1145	c.437T>C	c.(436-438)gTa>gCa	p.V146A	ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000301042.3_Missense_Mutation_p.V146A|ZNF641_ENST00000547026.1_Missense_Mutation_p.V132A			Q96N77	ZN641_HUMAN	zinc finger protein 641	146	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V146A(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CAGAGAGACTACTATCCCACA	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											94	89	91					12																	48739139		2203	4300	6503	47025406	SO:0001583	missense	121274			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.437T>C	12.37:g.48739139A>G	ENSP00000437832:p.Val146Ala		47025406	B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229469	0.79688	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026	T;T;T	0.01963	4.53;4.53;4.53	5.54	5.54	0.83059	Krueppel-associated box (4);	0.000000	0.53938	D	0.000052	T	0.12305	0.0299	M	0.78637	2.42	0.41010	D	0.984994	D	0.69078	0.997	D	0.76071	0.987	T	0.00436	-1.1740	10	0.52906	T	0.07	.	13.9163	0.63899	1.0:0.0:0.0:0.0	.	146	Q96N77	ZN641_HUMAN	A	146;146;132	ENSP00000301042:V146A;ENSP00000437832:V146A;ENSP00000449974:V132A	ENSP00000301042:V146A	V	-	2	0	ZNF641	47025406	0.952000	0.32445	1.000000	0.80357	0.997000	0.91878	5.732000	0.68563	2.243000	0.73865	0.533000	0.62120	GTA		0.507	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		G	48739139	A	G	48739139	3	3	189	1	0	0	0	0	1	0	0	0	18057	391	14	4	891	4	ZNF641	12	48739139	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08	33942553	48739139	85112756	56	10821											
SCN8A	6334	broad.mit.edu	37	12	52200485	52200485	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr12:52200485C>A	ENST00000354534.6	+	27	5393	c.5215C>A	c.(5215-5217)Ccc>Acc	p.P1739T	SCN8A_ENST00000545061.1_Missense_Mutation_p.P1698T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1739					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.P1739T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TTGTGGGAACCCCTCAGTGGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	12											73	80	78					12																	52200485		2134	4269	6403	50486752	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5215C>A	12.37:g.52200485C>A	ENSP00000346534:p.Pro1739Thr		50486752	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012259	0.54468	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.98192	-4.78;-4.78	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.99698	1.1003	10	0.87932	D	0	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	1739	Q9UQD0	SCN8A_HUMAN	T	1739;1698	ENSP00000346534:P1739T;ENSP00000440360:P1698T	ENSP00000346534:P1739T	P	+	1	0	SCN8A	50486752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CCC		0.507	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		A	52200485	C	A	52200485	3	1	189	1	0	0	0	0	1	0	0	0	13927	623	22	3	5317	3	SCN8A	12	52200485	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	3461346	52200485	81651410	57	10822											
SCN8A	6334	broad.mit.edu	37	12	52200805	52200805	+	Silent	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr12:52200805G>A	ENST00000354534.6	+	27	5713	c.5535G>A	c.(5533-5535)ttG>ttA	p.L1845L	SCN8A_ENST00000545061.1_Silent_p.L1804L|RP11-923I11.3_ENST00000565518.1_lincRNA|AC068987.1_ENST00000599343.1_5'Flank	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1845					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.L1845L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCCACTGCTTGGACATCCTTT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	12											90	95	93					12																	52200805		2115	4255	6370	50487072	SO:0001819	synonymous_variant	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5535G>A	12.37:g.52200805G>A			50487072	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	CCDS44891.1																																																																																				0.567	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		A	52200805	G	A	52200805	2	1	189	1	0	0	0	0	0	0	0	1	13927	1339	47	2		2	SCN8A	12	52200805	Silent	SNP	G	TCGA-23-1122-01A-01W-0486-08	320	52200805	81651090	58	10823											
SPPL3	121665	broad.mit.edu	37	12	121204137	121204137	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr12:121204137C>T	ENST00000353487.2	-	10	1515	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	339						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.A338T(1)				all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCTGGGCGGCCCGGTGAATG	0.547																																																1	Substitution - Missense(1)	ovary(1)	12											40	37	38					12																	121204137		2203	4298	6501	119688520	SO:0001583	missense	121665				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.1012G>A	12.37:g.121204137C>T	ENSP00000288680:p.Ala338Thr		119688520	Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	37	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380902	0.95945	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.17854	2.25	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	L	0.56769	1.78	0.80722	D	1	P;P	0.46020	0.871;0.811	P;B	0.52343	0.696;0.433	T	0.01195	-1.1422	10	0.14656	T	0.56	-15.7169	19.8579	0.96771	0.0:1.0:0.0:0.0	.	339;338	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	T	338;337	ENSP00000288680:A338T	ENSP00000288680:A338T	A	-	1	0	AC069214.1	119688520	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.487000	0.81328	2.687000	0.91594	0.655000	0.94253	GCC		0.547	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		T	121204137	C	T	121204137	3	4	189	1	0	0	0	0	1	0	0	0	15092	739	26	2	150	2	SPPL3	12	121204137	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	69003332	121204137	12647758	59	10824											
DGKH	160851	broad.mit.edu	37	13	42772647	42772647	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr13:42772647G>C	ENST00000337343.4	+	18	2222	c.2201G>C	c.(2200-2202)gGg>gCg	p.G734A	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.5_Missense_Mutation_p.G734A|DGKH_ENST00000379274.2_Missense_Mutation_p.G598A|DGKH_ENST00000538674.1_Missense_Mutation_p.G489A|DGKH_ENST00000540693.1_Missense_Mutation_p.G734A|DGKH_ENST00000536612.1_Missense_Mutation_p.G598A	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	734					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.G734A(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TCAATTGCTGGGAGTTCGATT	0.418																																																1	Substitution - Missense(1)	ovary(1)	13											136	127	130					13																	42772647		2203	4300	6503	41670647	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2201G>C	13.37:g.42772647G>C	ENSP00000337572:p.Gly734Ala		41670647	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717496	0.89205	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;T;D;D;D;T	0.82255	-1.58;-1.45;-1.58;-1.59;-1.59;1.64	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	M	0.71581	2.175	0.80722	D	1	D;D;D;B	0.89917	0.966;0.966;1.0;0.25	P;P;D;B	0.83275	0.747;0.73;0.996;0.109	D	0.87476	0.2417	10	0.27082	T	0.32	.	19.8372	0.96661	0.0:0.0:1.0:0.0	.	489;598;734;734	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	A	734;734;734;598;598;489	ENSP00000440823:G734A;ENSP00000337572:G734A;ENSP00000261491:G734A;ENSP00000368576:G598A;ENSP00000445114:G598A;ENSP00000441308:G489A	ENSP00000261491:G734A	G	+	2	0	DGKH	41670647	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.825000	0.92029	2.770000	0.95276	0.655000	0.94253	GGG		0.418	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		C	42772647	G	C	42772647	3	2	189	1	0	0	0	0	1	0	0	0	4470	1232	43	3	2271	3	DGKH	13	42772647	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08		42772647	72397231	60	10825											
CHD8	57680	broad.mit.edu	37	14	21876941	21876941	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr14:21876941T>C	ENST00000557364.1	-	12	2671	c.2408A>G	c.(2407-2409)cAt>cGt	p.H803R	CHD8_ENST00000430710.3_Missense_Mutation_p.H524R|CHD8_ENST00000399982.2_Missense_Mutation_p.H803R|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	803					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.H803R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTATATTCATGTGATAGCTC	0.388																																																1	Substitution - Missense(1)	ovary(1)	14											89	76	80					14																	21876941		1810	4080	5890	20946781	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2408A>G	14.37:g.21876941T>C	ENSP00000451601:p.His803Arg		20946781	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	T	3.139	-0.176663	0.06380	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.93189	-3.18;-3.18;-3.18	5.31	5.31	0.75309	.	0.061993	0.64402	D	0.000007	T	0.71350	0.3329	N	0.00254	-1.765	0.34308	D	0.685128	B	0.02656	0.0	B	0.01281	0.0	T	0.73199	-0.4058	10	0.02654	T	1	-21.6595	8.9353	0.35695	0.0:0.0833:0.0:0.9167	.	524	Q9HCK8-2	.	R	524;803;523;803	ENSP00000406288:H524R;ENSP00000382863:H803R;ENSP00000451601:H803R	ENSP00000262707:H523R	H	-	2	0	CHD8	20946781	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	1.457000	0.35212	2.219000	0.72066	0.528000	0.53228	CAT		0.388	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		C	21876941	T	C	21876941	3	2	189	1	0	0	0	0	1	0	0	0	3331	1464	51	4	5445	4	CHD8	14	21876941	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08		21876941	85472599	61	10826											
DCAF4	26094	broad.mit.edu	37	14	73420934	73420934	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr14:73420934T>A	ENST00000358377.2	+	10	1091	c.871T>A	c.(871-873)Tcc>Acc	p.S291T	DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000394234.2_Missense_Mutation_p.S191T|DCAF4_ENST00000509153.1_Missense_Mutation_p.S231T|DCAF4_ENST00000555042.1_Missense_Mutation_p.S292T|DCAF4_ENST00000553457.1_Missense_Mutation_p.S191T	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	291					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.S291T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CTGTGCCTGGTCCCTGAATAT	0.542																																																1	Substitution - Missense(1)	ovary(1)	14											183	187	185					14																	73420934		2203	4300	6503	72490687	SO:0001583	missense	26094			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.871T>A	14.37:g.73420934T>A	ENSP00000351147:p.Ser291Thr		72490687	B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.718941	0.30503	.	.	ENSG00000119599	ENST00000358377;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T	0.61627	0.48;0.09;0.46;0.13;4.67	4.94	3.79	0.43588	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.183049	0.64402	D	0.000010	T	0.51805	0.1696	L	0.51422	1.61	0.36368	D	0.861115	B;B;P;P;B	0.35033	0.224;0.349;0.481;0.481;0.349	B;B;B;B;B	0.38500	0.145;0.142;0.275;0.204;0.101	T	0.59225	-0.7494	10	0.45353	T	0.12	.	9.4129	0.38503	0.0:0.081:0.0:0.919	.	231;270;291;292;291	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q8WV16	.;.;.;.;DCAF4_HUMAN	T	291;191;231;292;191	ENSP00000351147:S291T;ENSP00000377781:S191T;ENSP00000426178:S231T;ENSP00000452131:S292T;ENSP00000451186:S191T	ENSP00000351147:S291T	S	+	1	0	DCAF4	72490687	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.706000	0.74649	1.018000	0.39521	0.448000	0.29417	TCC		0.542	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		A	73420934	T	A	73420934	3	1	189	1	0	0	0	0	1	0	0	0	4270	1667	58	5	908	5	DCAF4	14	73420934	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	51543993	73420934	33928606	62	10827											
KCNK10	54207	broad.mit.edu	37	14	88652212	88652212	+	Silent	SNP	C	C	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr14:88652212C>T	ENST00000340700.5	-	7	1735	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	KCNK10_ENST00000319231.5_Silent_p.P433P|KCNK10_ENST00000312350.5_Silent_p.P433P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	428					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.P428P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCAGCTGCTCCGGCCCCTTCA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	14											75	76	75					14																	88652212		2203	4300	6503	87721965	SO:0001819	synonymous_variant	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1284G>A	14.37:g.88652212C>T			87721965	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	CCDS9880.1																																																																																				0.587	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		T	88652212	C	T	88652212	2	4	189	1	0	0	0	0	0	0	0	1	8059	639	23	1		1	KCNK10	14	88652212	Silent	SNP	C	TCGA-23-1122-01A-01W-0486-08	15231278	88652212	18697328	63	10828											
DYNC1H1	1778	broad.mit.edu	37	14	102505809	102505809	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr14:102505809T>C	ENST00000360184.4	+	61	11685	c.11521T>C	c.(11521-11523)Tac>Cac	p.Y3841H	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3841					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.Y3841H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAACGTCCTATACGAGAACCC	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											104	94	98					14																	102505809		2203	4300	6503	101575562	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11521T>C	14.37:g.102505809T>C	ENSP00000348965:p.Tyr3841His		101575562	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	8.082	0.772596	0.16051	.	.	ENSG00000197102	ENST00000360184	T	0.54279	0.58	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37320	0.0999	N	0.13168	0.305	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.14282	-1.0478	10	0.27785	T	0.31	.	15.745	0.77932	0.0:0.0:0.0:1.0	.	3841	Q14204	DYHC1_HUMAN	H	3841	ENSP00000348965:Y3841H	ENSP00000348965:Y3841H	Y	+	1	0	DYNC1H1	101575562	1.000000	0.71417	0.974000	0.42286	0.084000	0.17831	8.040000	0.89188	2.122000	0.65172	0.482000	0.46254	TAC		0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		C	102505809	T	C	102505809	3	2	189	1	0	0	0	0	1	0	0	0	4841	1406	49	4	11763	4	DYNC1H1	14	102505809	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	13853597	102505809	4843731	64	10829											
MTFMT	123263	broad.mit.edu	37	15	65295594	65295594	+	Splice_Site	SNP	C	C	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr15:65295594C>A	ENST00000220058.4	-	9	989	c.976G>T	c.(976-978)Gat>Tat	p.D326Y		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	326						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)	p.D326Y(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ATCCAACCATCCTAAAGGGCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	15											56	48	51					15																	65295594		1846	4091	5937	63082647	SO:0001630	splice_region_variant	123263			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.976-1G>T	15.37:g.65295594C>A			63082647	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192763	0.38707	.	.	ENSG00000103707	ENST00000220058	T	0.52754	0.65	5.23	4.31	0.51392	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.103551	0.64402	D	0.000005	T	0.67683	0.2919	M	0.80746	2.51	0.45541	D	0.998492	D	0.89917	1.0	D	0.74348	0.983	T	0.72077	-0.4399	10	0.87932	D	0	-19.8781	11.5388	0.50655	0.0:0.914:0.0:0.086	.	326	Q96DP5	FMT_HUMAN	Y	326	ENSP00000220058:D326Y	ENSP00000220058:D326Y	D	-	1	0	MTFMT	63082647	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	3.416000	0.52707	1.318000	0.45170	0.591000	0.81541	GAT		0.363	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242	Missense_Mutation	A	65295594	C	A	65295594	5	1	189	1	0	0	0	0	0	0	1	0	9924	869	30	3	197	3	MTFMT	15	65295594	Splice_Site	SNP	C	TCGA-23-1122-01A-01W-0486-08		65295594	37235798	65	10830											
C15orf42	90381	broad.mit.edu	37	15	90168333	90168333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr15:90168333G>T	ENST00000268138.7	+	20	4897	c.4792G>T	c.(4792-4794)Gaa>Taa	p.E1598*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.E1597*|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1598					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E1598*(1)									CTCTCTGGGAGAAGAGAGCTT	0.572																																																1	Substitution - Nonsense(1)	ovary(1)	15											53	52	52					15																	90168333		2200	4299	6499	87969337	SO:0001587	stop_gained	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4792G>T	15.37:g.90168333G>T	ENSP00000268138:p.Glu1598*		87969337	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	41	8.964155	0.99019	.	.	ENSG00000140534	ENST00000268138	.	.	.	4.9	3.98	0.46160	.	0.700448	0.13861	N	0.357660	.	.	.	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-7.2641	15.5703	0.76330	0.0:0.1385:0.8615:0.0	.	.	.	.	X	1598	.	ENSP00000268138:E1598X	E	+	1	0	C15orf42	87969337	0.997000	0.39634	0.089000	0.20774	0.023000	0.10783	5.149000	0.64863	1.155000	0.42497	0.563000	0.77884	GAA		0.572	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		T	90168333	G	T	90168333	4	4	189	1	0	0	0	0	0	1	0	0	1796	943	33	3	4870	3	C15orf42	15	90168333	Nonsense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	24872739	90168333	12363059	66	10831											
IFT140	9742	broad.mit.edu	37	16	1636197	1636197	+	Silent	SNP	T	T	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr16:1636197T>G	ENST00000426508.2	-	10	1452	c.1089A>C	c.(1087-1089)gcA>gcC	p.A363A	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	363					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.A363A(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCTTGCCCTCTGCCCCGGGGC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	16											126	111	116					16																	1636197		2199	4300	6499	1576198	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1089A>C	16.37:g.1636197T>G			1576198	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.582	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		G	1636197	T	G	1636197	2	3	189	1	0	0	0	0	0	0	0	1	7556	1567	55	5		5	IFT140	16	1636197	Silent	SNP	T	TCGA-23-1122-01A-01W-0486-08		1636197	88718556	67	10832											
ABCC6	368	broad.mit.edu	37	16	16278888	16278888	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr16:16278888G>A	ENST00000205557.7	-	15	1900	c.1871C>T	c.(1870-1872)gCc>gTc	p.A624V	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	624					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A624V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	ATCCTTCCCGGCAGCTGCAGG	0.652																																																1	Substitution - Missense(1)	ovary(1)	16											130	99	109					16																	16278888		2197	4300	6497	16186389	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1871C>T	16.37:g.16278888G>A	ENSP00000205557:p.Ala624Val		16186389	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847192	0.32606	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.90676	-2.71;-2.71	4.83	4.83	0.62350	.	1.436400	0.04905	U	0.452064	D	0.83594	0.5288	N	0.12182	0.205	0.58432	D	0.999999	B;B	0.28933	0.228;0.049	B;B	0.25140	0.058;0.026	T	0.61549	-0.7040	10	0.20519	T	0.43	.	13.7739	0.63041	0.0:0.0:1.0:0.0	.	636;624	F5GWQ0;O95255	.;MRP6_HUMAN	V	624;624;636	ENSP00000205557:A624V;ENSP00000405002:A624V	ENSP00000205557:A624V	A	-	2	0	ABCC6	16186389	0.000000	0.05858	0.005000	0.12908	0.206000	0.24218	0.497000	0.22514	2.384000	0.81235	0.655000	0.94253	GCC		0.652	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			A	16278888	G	A	16278888	3	1	189	1	0	0	0	0	1	0	0	0	57	1203	42	2	2708	2	ABCC6	16	16278888	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	14642691	16278888	74075865	68	10833											
SHCBP1	79801	broad.mit.edu	37	16	46615701	46615701	+	Silent	SNP	C	C	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr16:46615701C>G	ENST00000303383.3	-	13	2225	c.1959G>C	c.(1957-1959)ggG>ggC	p.G653G		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	653					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.G653G(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCCCCACAATCCCAACAAACA	0.428																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	16											230	198	209					16																	46615701		2203	4300	6503	45173202	SO:0001819	synonymous_variant	79801			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1959G>C	16.37:g.46615701C>G			45173202	Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	CCDS10720.1																																																																																				0.428	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		G	46615701	C	G	46615701	2	3	189	1	0	0	0	0	0	0	0	1	14277	842	30	3		3	SHCBP1	16	46615701	Silent	SNP	C	TCGA-23-1122-01A-01W-0486-08	30336813	46615701	43739052	69	10834											
RSPRY1	89970	broad.mit.edu	37	16	57261340	57261340	+	Silent	SNP	T	T	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr16:57261340T>A	ENST00000537866.1	+	11	2121	c.1248T>A	c.(1246-1248)ccT>ccA	p.P416P	RSPRY1_ENST00000394420.4_Silent_p.P416P|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	416	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.P416P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAAGTAAGCCTCACATACACC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	16											120	103	109					16																	57261340		2198	4300	6498	55818841	SO:0001819	synonymous_variant	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1248T>A	16.37:g.57261340T>A			55818841	Q6UX21|Q8ND53	Silent	SNP	ENST00000537866.1	37	CCDS10775.1																																																																																				0.428	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		A	57261340	T	A	57261340	2	1	189	1	0	0	0	0	0	0	0	1	13716	1538	54	5		5	RSPRY1	16	57261340	Silent	SNP	T	TCGA-23-1122-01A-01W-0486-08	10645639	57261340	33093413	70	10835											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	189	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08		7578406	73616804	71	10836											
ABCA9	10350	broad.mit.edu	37	17	67014629	67014629	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr17:67014629G>A	ENST00000340001.4	-	20	2903	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S	ABCA9_ENST00000453985.2_Missense_Mutation_p.P898S|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.P898S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	898					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P898S(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATGTATTTGGAGACAGTTCC	0.418																																																1	Substitution - Missense(1)	ovary(1)	17											245	241	242					17																	67014629		2203	4300	6503	64526224	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2692C>T	17.37:g.67014629G>A	ENSP00000342216:p.Pro898Ser		64526224	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951298	0.53186	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.82526	-1.62;-1.62	5.49	5.49	0.81192	.	0.000000	0.43579	D	0.000558	D	0.85279	0.5660	M	0.64676	1.99	0.32223	N	0.575016	D;P	0.54397	0.966;0.583	P;B	0.54270	0.747;0.222	D	0.85321	0.1084	10	0.25106	T	0.35	.	12.3621	0.55209	0.082:0.0:0.918:0.0	.	898;898	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	898;881;898;893	ENSP00000342216:P898S;ENSP00000359767:P898S	ENSP00000342216:P898S	P	-	1	0	ABCA9	64526224	1.000000	0.71417	0.868000	0.34077	0.162000	0.22319	2.776000	0.47709	2.577000	0.86979	0.655000	0.94253	CCA		0.418	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		A	67014629	G	A	67014629	3	1	189	1	0	0	0	0	1	0	0	0	39	1174	41	2	2262	2	ABCA9	17	67014629	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	59436223	67014629	14180581	72	10837											
ABCA10	10349	broad.mit.edu	37	17	67171636	67171636	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr17:67171636G>A	ENST00000269081.4	-	24	3697	c.2788C>T	c.(2788-2790)Ctt>Ttt	p.L930F	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	930					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L930F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATAAAACCAAGATCCAGCACT	0.358																																																1	Substitution - Missense(1)	ovary(1)	17											99	89	92					17																	67171636		2203	4300	6503	64683231	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2788C>T	17.37:g.67171636G>A	ENSP00000269081:p.Leu930Phe		64683231	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.408762	0.00193	.	.	ENSG00000154263	ENST00000269081	D	0.83250	-1.7	2.88	-5.76	0.02376	.	.	.	.	.	T	0.53753	0.1816	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.45411	-0.9263	9	0.09338	T	0.73	.	1.6779	0.02826	0.2036:0.1059:0.15:0.5405	.	930	Q8WWZ4	ABCAA_HUMAN	F	930	ENSP00000269081:L930F	ENSP00000269081:L930F	L	-	1	0	ABCA10	64683231	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.945000	0.01537	-2.938000	0.00298	-0.750000	0.03501	CTT		0.358	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		A	67171636	G	A	67171636	3	1	189	1	0	0	0	0	1	0	0	0	29	942	33	2	1911	2	ABCA10	17	67171636	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	157007	67171636	14023574	73	10838											
CD300A	11314	broad.mit.edu	37	17	72470705	72470705	+	Silent	SNP	G	G	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr17:72470705G>T	ENST00000360141.3	+	3	702	c.414G>T	c.(412-414)gcG>gcT	p.A138A	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Silent_p.A8A|CD300A_ENST00000310828.5_Silent_p.A25A|CD300A_ENST00000392625.3_Silent_p.A25A	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	138					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)	p.A138A(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GTATCACTGCGGCCAAGACCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	17											234	173	194					17																	72470705		2203	4300	6503	69982300	SO:0001819	synonymous_variant	11314			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.414G>T	17.37:g.72470705G>T			69982300	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Silent	SNP	ENST00000360141.3	37	CCDS32720.1																																																																																				0.547	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		T	72470705	G	T	72470705	2	4	189	1	0	0	0	0	0	0	0	1	2996	1103	39	3		3	CD300A	17	72470705	Silent	SNP	G	TCGA-23-1122-01A-01W-0486-08	5299069	72470705	8724505	74	10839											
CNDP2	55748	broad.mit.edu	37	18	72187269	72187269	+	Missense_Mutation	SNP	C	C	T	rs559463515		TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr18:72187269C>T	ENST00000324262.4	+	12	1710	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	CNDP2_ENST00000579847.1_Missense_Mutation_p.A465V|CNDP2_ENST00000324301.8_Missense_Mutation_p.A381V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	465					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.A465V(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGCTGGCCGCGTACCTGTAT	0.537																																																1	Substitution - Missense(1)	ovary(1)	18											119	94	102					18																	72187269		2203	4300	6503	70338249	SO:0001583	missense	55748			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1394C>T	18.37:g.72187269C>T	ENSP00000325548:p.Ala465Val		70338249	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188860	0.57909	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.53423	0.62;0.62	5.44	5.44	0.79542	.	0.048840	0.85682	D	0.000000	T	0.48484	0.1502	M	0.85462	2.755	0.80722	D	1	P;P	0.46064	0.523;0.872	B;B	0.29663	0.076;0.105	T	0.61207	-0.7109	10	0.40728	T	0.16	-24.1893	17.4447	0.87574	0.0:1.0:0.0:0.0	.	381;465	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	V	465;381	ENSP00000325548:A465V;ENSP00000325756:A381V	ENSP00000325548:A465V	A	+	2	0	CNDP2	70338249	1.000000	0.71417	0.275000	0.24674	0.244000	0.25665	7.329000	0.79170	2.548000	0.85928	0.650000	0.86243	GCG		0.537	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		T	72187269	C	T	72187269	3	4	189	1	0	0	0	0	1	0	0	0	3594	768	27	1	1436	1	CNDP2	18	72187269	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08		72187269	5889979	75	10840											
CYP4F2	8529	broad.mit.edu	37	19	16000331	16000331	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr19:16000331G>A	ENST00000221700.6	-	7	915	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	CYP4F2_ENST00000011989.7_Missense_Mutation_p.R125W	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R274W(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGCGGCGCCGCTCCTGGATG	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											95	90	92					19																	16000331		2203	4300	6503	15861331	SO:0001583	missense	8529			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.820C>T	19.37:g.16000331G>A	ENSP00000221700:p.Arg274Trp		15861331		Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	14.80	2.644070	0.47258	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.73681	-0.77;1.07	2.72	1.65	0.23941	.	0.106930	0.36268	U	0.002685	D	0.84206	0.5421	H	0.95365	3.66	0.41827	D	0.990051	D;P	0.53885	0.963;0.886	P;P	0.56648	0.803;0.668	T	0.81618	-0.0851	10	0.87932	D	0	.	3.458	0.07523	0.1448:0.0:0.6077:0.2475	.	125;274	B4DV75;P78329	.;CP4F2_HUMAN	W	274;125;125	ENSP00000221700:R274W;ENSP00000011989:R125W	ENSP00000011989:R125W	R	-	1	2	CYP4F2	15861331	0.996000	0.38824	0.780000	0.31762	0.857000	0.48899	3.121000	0.50438	0.454000	0.26884	0.305000	0.20034	CGG		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		A	16000331	G	A	16000331	3	1	189	1	0	0	0	0	1	0	0	0	4188	1086	38	1	770	1	CYP4F2	19	16000331	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08		16000331	43128652	76	10841											
PGLYRP1	8993	broad.mit.edu	37	19	46522630	46522630	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr19:46522630C>G	ENST00000008938.4	-	3	500	c.457G>C	c.(457-459)Gcc>Ccc	p.A153P	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	153					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.A153P(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		ACACCGCAGGCCAGTAGACCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											86	89	88					19																	46522630		2203	4300	6503	51214470	SO:0001583	missense	8993			AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"peptidoglycan recognition protein"	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.457G>C	19.37:g.46522630C>G	ENSP00000008938:p.Ala153Pro		51214470	Q4VB36	Missense_Mutation	SNP	ENST00000008938.4	37	CCDS12680.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590007	0.28357	.	.	ENSG00000008438	ENST00000008938	T	0.17691	2.26	4.71	-3.9	0.04181	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	1.137000	0.06796	N	0.787913	T	0.20047	0.0482	M	0.92738	3.34	0.09310	N	1	P	0.49185	0.92	B	0.38683	0.279	T	0.43877	-0.9364	10	0.27785	T	0.31	-2.2435	1.037	0.01551	0.1433:0.3056:0.2808:0.2703	.	153	O75594	PGRP1_HUMAN	P	153	ENSP00000008938:A153P	ENSP00000008938:A153P	A	-	1	0	PGLYRP1	51214470	0.074000	0.21230	0.722000	0.30670	0.210000	0.24377	-0.293000	0.08320	0.057000	0.16193	0.558000	0.71614	GCC		0.637	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		G	46522630	C	G	46522630	3	3	189	1	0	0	0	0	1	0	0	0	11793	739	26	3	137	3	PGLYRP1	19	46522630	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	30522299	46522630	12606353	77	10842											
KPTN	11133	broad.mit.edu	37	19	47979937	47979937	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr19:47979937G>C	ENST00000338134.3	-	11	1141	c.1034C>G	c.(1033-1035)tCg>tGg	p.S345W	KPTN_ENST00000536339.1_Missense_Mutation_p.S105W	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	345					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.S345W(1)		breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGAAGCCCCGACTCTGGGCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											16	19	18					19																	47979937		1931	4129	6060	52671749	SO:0001583	missense	11133			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"kaptin (actin-binding protein)"			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.1034C>G	19.37:g.47979937G>C	ENSP00000337850:p.Ser345Trp		52671749	B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303893	0.23736	.	.	ENSG00000118162	ENST00000338134;ENST00000536339	T;T	0.59083	0.29;1.83	4.07	-0.694	0.11294	.	1.458410	0.04468	N	0.375557	T	0.49029	0.1533	L	0.46157	1.445	0.09310	N	1	P	0.52577	0.954	B	0.43413	0.419	T	0.44528	-0.9322	10	0.66056	D	0.02	-8.3366	2.3588	0.04302	0.1735:0.2863:0.4044:0.1358	.	345	Q9Y664	KPTN_HUMAN	W	345;105	ENSP00000337850:S345W;ENSP00000442579:S105W	ENSP00000337850:S345W	S	-	2	0	KPTN	52671749	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.002000	0.13061	0.013000	0.14918	-0.333000	0.08304	TCG		0.642	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			C	47979937	G	C	47979937	3	2	189	1	0	0	0	0	1	0	0	0	8437	1059	37	3	284	3	KPTN	19	47979937	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	1457307	47979937	11149046	78	10843											
FCGRT	2217	broad.mit.edu	37	19	50017245	50017245	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr19:50017245C>G	ENST00000221466.5	+	3	666	c.180C>G	c.(178-180)agC>agG	p.S60R	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Missense_Mutation_p.S60R|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Missense_Mutation_p.S60R	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	60	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)	p.S60R(1)		endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AGTACCTGAGCTACAATAGCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											67	73	71					19																	50017245		2203	4300	6503	54709057	SO:0001583	missense	2217			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.180C>G	19.37:g.50017245C>G	ENSP00000221466:p.Ser60Arg		54709057	Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	2.064	-0.414791	0.04766	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	T;T	0.00633	6.08;6.08	4.6	3.57	0.40892	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.629272	0.14136	N	0.339012	T	0.00936	0.0031	N	0.20766	0.605	0.31735	N	0.636608	D	0.76494	0.999	P	0.58970	0.849	T	0.31641	-0.9936	10	0.02654	T	1	.	10.7232	0.46052	0.0:0.8072:0.1928:0.0	.	60	P55899	FCGRN_HUMAN	R	60	ENSP00000221466:S60R;ENSP00000410798:S60R	ENSP00000221466:S60R	S	+	3	2	FCGRT	54709057	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	0.882000	0.28186	1.172000	0.42781	-0.225000	0.12378	AGC		0.632	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			G	50017245	C	G	50017245	3	3	189	1	0	0	0	0	1	0	0	0	5786	796	28	3	186	3	FCGRT	19	50017245	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08	2037308	50017245	9111738	79	10844											
ZNF765	91661	broad.mit.edu	37	19	53912239	53912239	+	Silent	SNP	G	G	T	rs535191602		TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr19:53912239G>T	ENST00000396408.3	+	4	1548	c.1431G>T	c.(1429-1431)cgG>cgT	p.R477R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R477R(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CCTTCAGCCGGACGTCATCCC	0.373													.|||	1	0.000199681	8e-04	0	5008	,	,		22917	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19											98	103	102					19																	53912239		2202	4300	6502	58604051	SO:0001819	synonymous_variant	91661			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1431G>T	19.37:g.53912239G>T			58604051	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	ENST00000396408.3	37	CCDS46171.1																																																																																				0.373	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		T	53912239	G	T	53912239	2	4	189	1	0	0	0	0	0	0	0	1	18139	1161	41	3		3	ZNF765	19	53912239	Silent	SNP	G	TCGA-23-1122-01A-01W-0486-08	3894994	53912239	5216744	80	10845											
RIMS4	140730	broad.mit.edu	37	20	43384921	43384921	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr20:43384921C>G	ENST00000372851.3	-	6	730	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.E223Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	222					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.E222Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AAGTCCAGCTCCTCCAGCAGC	0.642																																																1	Substitution - Missense(1)	ovary(1)	20											57	48	51					20																	43384921		2203	4300	6503	42818335	SO:0001583	missense	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.664G>C	20.37:g.43384921C>G	ENSP00000361942:p.Glu222Gln		42818335	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490144	0.64074	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.79845	-1.31;-1.31	5.07	5.07	0.68467	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	L	0.52905	1.665	0.80722	D	1	B;B	0.28324	0.207;0.207	B;B	0.29524	0.103;0.084	T	0.79142	-0.1925	10	0.72032	D	0.01	.	18.4886	0.90838	0.0:1.0:0.0:0.0	.	223;222	E1P613;Q9H426	.;RIMS4_HUMAN	Q	222;223	ENSP00000361942:E222Q;ENSP00000439287:E223Q	ENSP00000361942:E222Q	E	-	1	0	RIMS4	42818335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.355000	0.79922	0.655000	0.94253	GAG		0.642	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		G	43384921	C	G	43384921	3	3	189	1	0	0	0	0	1	0	0	0	13373	864	30	3	149	3	RIMS4	20	43384921	Missense_Mutation	SNP	C	TCGA-23-1122-01A-01W-0486-08		43384921	19640599	81	10846											
DOK5	55816	broad.mit.edu	37	20	53205045	53205045	+	Silent	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr20:53205045G>A	ENST00000262593.5	+	3	548	c.198G>A	c.(196-198)aaG>aaA	p.K66K	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	66	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.K66K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATAATGTGAAGAACGTAGCTC	0.413																																																1	Substitution - coding silent(1)	ovary(1)	20											145	139	141					20																	53205045		2203	4300	6503	52638452	SO:0001819	synonymous_variant	55816			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.198G>A	20.37:g.53205045G>A			52638452	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Silent	SNP	ENST00000262593.5	37	CCDS13446.1																																																																																				0.413	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			A	53205045	G	A	53205045	2	1	189	1	0	0	0	0	0	0	0	1	4700	933	33	2		2	DOK5	20	53205045	Silent	SNP	G	TCGA-23-1122-01A-01W-0486-08	9820124	53205045	9820475	82	10847											
MYO18B	84700	broad.mit.edu	37	22	26342103	26342103	+	Splice_Site	SNP	C	C	G			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr22:26342103C>G	ENST00000407587.2	+	35	5690	c.5521C>G	c.(5521-5523)Ctg>Gtg	p.L1841V	MYO18B_ENST00000335473.7_Splice_Site_p.L1840V|MYO18B_ENST00000536101.1_Splice_Site_p.L1840V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1840	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L1841V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTGGTCCAGCTGGAGCAGAG	0.592																																																1	Substitution - Missense(1)	ovary(1)	22											30	32	31					22																	26342103		1984	4143	6127	24672103	SO:0001630	splice_region_variant	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5521-1C>G	22.37:g.26342103C>G			24672103	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	c	13.40	2.225694	0.39300	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.91464	-2.83;-2.83;-2.85	4.92	3.91	0.45181	.	0.000000	0.53938	D	0.000041	D	0.83972	0.5370	L	0.38531	1.155	0.35578	D	0.806065	B;B;B;B	0.23490	0.013;0.052;0.026;0.086	B;B;B;B	0.25291	0.014;0.026;0.017;0.059	T	0.80311	-0.1436	9	.	.	.	.	8.9374	0.35708	0.0:0.8218:0.0:0.1782	.	1353;1840;1841;1840	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	1840;1840;1841	ENSP00000441229:L1840V;ENSP00000334563:L1840V;ENSP00000386096:L1841V	.	L	+	1	2	MYO18B	24672103	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.968000	0.29357	1.076000	0.40961	0.598000	0.82781	CTG		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	Missense_Mutation	G	26342103	C	G	26342103	5	3	189	1	0	0	0	0	0	0	1	0	10066	811	28	3	5652	3	MYO18B	22	26342103	Splice_Site	SNP	C	TCGA-23-1122-01A-01W-0486-08		26342103	24962463	83	10848											
ADSL	158	broad.mit.edu	37	22	40745999	40745999	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chr22:40745999T>C	ENST00000216194.7	+	2	373	c.317T>C	c.(316-318)aTt>aCt	p.I106T	ADSL_ENST00000342312.6_Missense_Mutation_p.I106T|ADSL_ENST00000454266.2_Missense_Mutation_p.I106T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	106					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.I106T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GCAGGCATTATTCACCTTGGT	0.428																																					Colon(4;65 130 1097 1516)											1	Substitution - Missense(1)	ovary(1)	22											156	123	134					22																	40745999		2203	4300	6503	39075945	SO:0001583	missense	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.317T>C	22.37:g.40745999T>C	ENSP00000216194:p.Ile106Thr		39075945	B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661452	0.88154	.	.	ENSG00000239900	ENST00000216194;ENST00000544206;ENST00000425605;ENST00000454266;ENST00000342312	D;D;D	0.99479	-3.87;-3.87;-5.98	5.59	5.59	0.84812	Lyase 1, N-terminal (1);L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.96301	3.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.97347	0.9961	10	0.87932	D	0	-17.1412	15.8537	0.78956	0.0:0.0:0.0:1.0	.	106;106;106;106	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	T	106	ENSP00000216194:I106T;ENSP00000390107:I106T;ENSP00000341429:I106T	ENSP00000216194:I106T	I	+	2	0	ADSL	39075945	1.000000	0.71417	0.401000	0.26359	0.993000	0.82548	7.516000	0.81772	2.141000	0.66446	0.529000	0.55759	ATT		0.428	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		C	40745999	T	C	40745999	3	2	189	1	0	0	0	0	1	0	0	0	346	1493	52	4	323	4	ADSL	22	40745999	Missense_Mutation	SNP	T	TCGA-23-1122-01A-01W-0486-08	14403896	40745999	10558567	84	10849											
KIF4A	24137	broad.mit.edu	37	X	69563732	69563732	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chrX:69563732A>C	ENST00000374403.3	+	13	1413	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	KIF4A_ENST00000374388.3_Missense_Mutation_p.K444T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	444					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K444T(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCAGCTGCAAACTGGATCTT	0.378																																																1	Substitution - Missense(1)	ovary(1)	X											46	41	43					X																	69563732		2203	4300	6503	69480457	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1331A>C	X.37:g.69563732A>C	ENSP00000363524:p.Lys444Thr		69480457	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794949	0.31777	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.54479	0.57;0.57	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000009	T	0.39809	0.1092	L	0.46885	1.475	0.58432	D	0.999991	P;B	0.39535	0.677;0.019	B;B	0.29353	0.101;0.034	T	0.29243	-1.0018	10	0.22109	T	0.4	.	12.7735	0.57434	1.0:0.0:0.0:0.0	.	444;444	O95239;O95239-2	KIF4A_HUMAN;.	T	444	ENSP00000363509:K444T;ENSP00000363524:K444T	ENSP00000363509:K444T	K	+	2	0	KIF4A	69480457	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.229000	0.58625	1.894000	0.54839	0.486000	0.48141	AAA		0.378	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		C	69563732	A	C	69563732	3	2	189	1	0	0	0	0	1	0	0	0	8303	14	1	5	1377	5	KIF4A	23	69563732	Missense_Mutation	SNP	A	TCGA-23-1122-01A-01W-0486-08		69563732	85706828	85	10850											
NOX1	27035	broad.mit.edu	37	X	100117759	100117759	+	Silent	SNP	G	G	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chrX:100117759G>T	ENST00000372966.3	-	5	593	c.388C>A	c.(388-390)Cga>Aga	p.R130R	NOX1_ENST00000217885.5_Silent_p.R130R|NOX1_ENST00000372960.4_Silent_p.R93R|NOX1_ENST00000372964.1_Silent_p.R130R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	130	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.R130R(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTGGCCTGTCGGCTTCTGCTA	0.453																																																1	Substitution - coding silent(1)	ovary(1)	X											142	141	141					X																	100117759		2203	4299	6502	100004415	SO:0001819	synonymous_variant	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.388C>A	X.37:g.100117759G>T			100004415	A8K836|O95691|Q2PP02	Silent	SNP	ENST00000372966.3	37	CCDS14474.1																																																																																				0.453	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		T	100117759	G	T	100117759	2	4	189	1	0	0	0	0	0	0	0	1	10556	1124	39	3		3	NOX1	23	100117759	Silent	SNP	G	TCGA-23-1122-01A-01W-0486-08	30554027	100117759	55152801	86	10851											
ARL13A	392509	broad.mit.edu	37	X	100240796	100240796	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chrX:100240796G>T	ENST00000450049.2	+	4	384	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	91					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.G107W(1)		endometrium(1)|ovary(1)	2						ACAGGCCCATGGGCTTGTTTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											98	91	93					X																	100240796		1936	4142	6078	100127452	SO:0001583	missense	392509				CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	31709	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 13"	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.271G>T	X.37:g.100240796G>T	ENSP00000398637:p.Gly91Trp		100127452	B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600799	0.46423	.	.	ENSG00000174225	ENST00000450049	D	0.84070	-1.8	4.55	4.55	0.56014	.	0.050099	0.85682	D	0.000000	D	0.92737	0.7691	H	0.95004	3.61	0.44966	D	0.997986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93811	0.7110	10	0.87932	D	0	.	11.6418	0.51237	0.0:0.0:1.0:0.0	.	91;91	B2RTT6;Q5H913	.;AR13A_HUMAN	W	91	ENSP00000398637:G91W	ENSP00000398637:G91W	G	+	1	0	ARL13A	100127452	1.000000	0.71417	0.394000	0.26270	0.318000	0.28184	4.353000	0.59411	2.522000	0.85027	0.594000	0.82650	GGG		0.473	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		T	100240796	G	T	100240796	3	4	189	1	0	0	0	0	1	0	0	0	928	1348	47	3	281	3	ARL13A	23	100240796	Missense_Mutation	SNP	G	TCGA-23-1122-01A-01W-0486-08	123037	100240796	55029764	87	10852											
IKBKG	8517	broad.mit.edu	37	X	153770592	153770592	+	5'UTR	SNP	G	G	A			TCGA-23-1122-01A-01W-0486-08	TCGA-23-1122-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ff74a9b0-a7f5-4f45-ace7-d7236efad78b	dfa95a8b-811f-4f82-8800-2f3710c0f78d	g.chrX:153770592G>A	ENST00000369607.1	+	0	115				G6PD_ENST00000393562.2_Intron|IKBKG_ENST00000369609.5_Silent_p.E38E|G6PD_ENST00000393564.2_Intron|G6PD_ENST00000497281.1_Intron|G6PD_ENST00000369620.2_Intron			Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma						activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of neuron death (GO:1901215)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular (GO:0005622)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	linear polyubiquitin binding (GO:1990450)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATCATCGAGGTCCCATCAG	0.567																																																0			X											57	48	51					X																	153770592		1568	3581	5149	153423786	SO:0001623	5_prime_UTR_variant	8517			AF074382	CCDS14757.1, CCDS48196.1, CCDS48197.1	Xq28	2014-09-17			ENSG00000073009	ENSG00000269335		"Zinc fingers, C2HC-type containing"	5961	protein-coding gene	gene with protein product		300248	"incontinentia pigmenti"	IP2, IP1		9751060, 10087442, 11590134	Standard	NM_001099857		Approved	IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, ZC2HC9	uc011mzr.2	Q9Y6K9	OTTHUMG00000024234	ENST00000369607.1:c.-26G>A	X.37:g.153770592G>A			153423786	Q7LBY6|Q7Z7F1	Silent	SNP	ENST00000369607.1	37	CCDS14757.1																																																																																				0.567	IKBKG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061155.2	NM_003639		A	153770592	G	A	153770592	1	1	189	0	1	0	0	0	0	0	0	0	7613	991	35	2		2	IKBKG	23	153770592	5'UTR	SNP	G	TCGA-23-1122-01A-01W-0486-08	53529796	153770592	1499968	88	10853											
CAMTA1	23261	genome.wustl.edu	37	1	7723427	7723427	+	Missense_Mutation	SNP	G	G	A	rs77267405		TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:7723427G>A	ENST00000303635.7	+	9	1027	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V274M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V274M(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGGCGGCAGCGTGCATCACAA	0.597			T	WWTR1	epitheliod hemangioendothelioma								G|||	1	0.000199681	0	0	5008	,	,		20408	0		0.001	False		,,,				2504	0						Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - Missense(1)	ovary(1)	1											127	125	126					1																	7723427		2203	4300	6503	7646014	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.820G>A	1.37:g.7723427G>A	ENSP00000306522:p.Val274Met		7646014	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	12.83	2.056042	0.36277	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.54675	0.56;0.56	4.89	3.97	0.46021	.	0.069722	0.56097	D	0.000023	T	0.64994	0.2649	L	0.50333	1.59	0.47123	D	0.99932	D	0.89917	1.0	D	0.80764	0.994	T	0.64609	-0.6367	10	0.46703	T	0.11	-11.4612	12.9368	0.58319	0.0784:0.0:0.9216:0.0	.	274	Q9Y6Y1	CMTA1_HUMAN	M	274	ENSP00000306522:V274M;ENSP00000402561:V274M	ENSP00000306522:V274M	V	+	1	0	CAMTA1	7646014	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.044000	0.57361	1.065000	0.40693	0.549000	0.68633	GTG		0.597	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		A	7723427	G	A	7723427	3	1	190	1	0	0	0	0	1	0	0	0	2613	1145	40	1	854	1	CAMTA1	1	7723427	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09		7723427	241527194	1	10854											
KIF17	57576	genome.wustl.edu	37	1	20992729	20992729	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:20992729G>T	ENST00000247986.2	-	14	3199	c.2889C>A	c.(2887-2889)agC>agA	p.S963R	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Missense_Mutation_p.S962R|KIF17_ENST00000375044.1_Missense_Mutation_p.S863R			Q9P2E2	KIF17_HUMAN	kinesin family member 17	963					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.S963R(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGGCGTCTGTGCTGAGGATCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											179	150	160					1																	20992729		2203	4300	6503	20865316	SO:0001583	missense	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2889C>A	1.37:g.20992729G>T	ENSP00000247986:p.Ser963Arg		20865316	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730874	0.30684	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.70986	-0.53;-0.42;-0.42	5.95	3.12	0.35913	.	.	.	.	.	T	0.65428	0.2690	L	0.55481	1.735	0.23762	N	0.996916	B;B;B	0.30146	0.177;0.27;0.177	B;B;B	0.32289	0.036;0.143;0.068	T	0.53215	-0.8470	9	0.35671	T	0.21	.	10.7608	0.46264	0.2077:0.0:0.7923:0.0	.	963;962;963	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	R	863;962;963;344	ENSP00000364184:S863R;ENSP00000383311:S962R;ENSP00000247986:S963R	ENSP00000247986:S963R	S	-	3	2	KIF17	20865316	0.026000	0.19158	0.817000	0.32601	0.168000	0.22595	0.343000	0.19944	0.437000	0.26423	-0.244000	0.11960	AGC		0.577	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		T	20992729	G	T	20992729	3	4	190	1	0	0	0	0	1	0	0	0	8279	1310	46	3	208	3	KIF17	1	20992729	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	13269302	20992729	228257892	2	10855											
UBAP2L	9898	genome.wustl.edu	37	1	154223752	154223752	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:154223752G>C	ENST00000361546.2	+	12	1491	c.1449G>C	c.(1447-1449)caG>caC	p.Q483H	UBAP2L_ENST00000343815.6_Missense_Mutation_p.Q483H|UBAP2L_ENST00000428931.1_Missense_Mutation_p.Q483H|UBAP2L_ENST00000271877.7_Missense_Mutation_p.Q494H			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	483					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.Q483H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGGCTCAGCAGAAACTGAAAC	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											60	65	64					1																	154223752		2203	4300	6503	152490376	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1449G>C	1.37:g.154223752G>C	ENSP00000355343:p.Gln483His		152490376	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255065	0.59321	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	T;T;T;T	0.12672	2.67;2.67;2.66;2.67	5.65	-2.67	0.06059	.	0.000000	0.85682	D	0.000000	T	0.08403	0.0209	N	0.08118	0	0.35991	D	0.836705	D;D;D;D;D	0.89917	0.99;1.0;0.994;0.994;0.99	D;D;D;D;D	0.81914	0.979;0.995;0.991;0.991;0.979	T	0.07693	-1.0759	10	0.72032	D	0.01	-2.1592	14.2947	0.66304	0.2947:0.0:0.7053:0.0	.	397;494;476;483;483	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	H	483;483;494;483	ENSP00000345308:Q483H;ENSP00000389445:Q483H;ENSP00000271877:Q494H;ENSP00000355343:Q483H	ENSP00000271877:Q494H	Q	+	3	2	UBAP2L	152490376	0.999000	0.42202	0.945000	0.38365	0.983000	0.72400	0.567000	0.23608	-0.355000	0.08199	-0.137000	0.14449	CAG		0.488	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		C	154223752	G	C	154223752	3	2	190	1	0	0	0	0	1	0	0	0	16838	933	33	3	1495	3	UBAP2L	1	154223752	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	133231023	154223752	95026869	3	10856											
NCF2	4688	genome.wustl.edu	37	1	183543675	183543675	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:183543675T>C	ENST00000367535.3	-	4	699	c.448A>G	c.(448-450)Atg>Gtg	p.M150V	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Missense_Mutation_p.M150V|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	150					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.M150V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TCAGACTTCATGCTCGTGGCC	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											322	286	298					1																	183543675		2203	4300	6503	181810298	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.448A>G	1.37:g.183543675T>C	ENSP00000356505:p.Met150Val		181810298	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	T	7.945	0.743577	0.15642	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000367535	T;T	0.64991	-0.13;-0.13	5.32	2.84	0.33178	Tetratricopeptide-like helical (1);	0.356073	0.34460	N	0.003945	T	0.48804	0.1520	L	0.54323	1.7	0.42751	D	0.993777	B	0.27700	0.186	B	0.23852	0.049	T	0.26573	-1.0099	10	0.15499	T	0.54	-22.9273	6.2955	0.21083	0.314:0.0:0.2308:0.4552	.	150	P19878	NCF2_HUMAN	V	150;178;150	ENSP00000356506:M150V;ENSP00000356505:M150V	ENSP00000356505:M150V	M	-	1	0	NCF2	181810298	0.997000	0.39634	0.528000	0.27938	0.439000	0.31926	0.794000	0.26958	0.345000	0.23873	0.533000	0.62120	ATG		0.453	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		C	183543675	T	C	183543675	3	2	190	1	0	0	0	0	1	0	0	0	10217	1464	51	4	1180	4	NCF2	1	183543675	Missense_Mutation	SNP	T	TCGA-23-1123-01A-01W-0488-09	29319923	183543675	65706946	4	10857											
TPR	7175	genome.wustl.edu	37	1	186328958	186328958	+	Silent	SNP	T	T	C	rs201691804	byFrequency	TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:186328958T>C	ENST00000367478.4	-	12	1658	c.1362A>G	c.(1360-1362)ttA>ttG	p.L454L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	454	Necessary for association to the NPC.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.L455L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCTTAACAGATAAACTTGCTA	0.368			T	NTRK1	papillary thyroid								T|||	12	0.00239617	0	0.0014	5008	,	,		16823	0		0.001	False		,,,				2504	0.0102						Dom	yes		1	1q25	7175	translocated promoter region		E	1	Substitution - coding silent(1)	ovary(1)	1						T		1,3697		0,1,1848	142	125	130		1362	0.9	1	1		130	12,8192		0,12,4090	no	coding-synonymous	TPR	NM_003292.2		0,13,5938	CC,CT,TT		0.1463,0.027,0.1092		454/2364	186328958	13,11889	1849	4102	5951	184595581	SO:0001819	synonymous_variant	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1362A>G	1.37:g.186328958T>C			184595581	Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																				0.368	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		C	186328958	T	C	186328958	2	2	190	1	0	0	0	0	0	0	0	1	16416	1403	49	4		4	TPR	1	186328958	Silent	SNP	T	TCGA-23-1123-01A-01W-0488-09	2785283	186328958	62921663	5	10858											
TRIM67	440730	genome.wustl.edu	37	1	231342437	231342437	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:231342437G>A	ENST00000366653.5	+	7	1720	c.1720G>A	c.(1720-1722)Ggt>Agt	p.G574S	TRIM67_ENST00000444294.3_Missense_Mutation_p.G572S|TRIM67_ENST00000366652.2_Missense_Mutation_p.G574S|TRIM67_ENST00000449018.3_Missense_Mutation_p.G512S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	574	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.G574S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TACCATCGACGGTCTTCACTT	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											78	85	83					1																	231342437		2067	4223	6290	229409060	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1720G>A	1.37:g.231342437G>A	ENSP00000355613:p.Gly574Ser		229409060	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544569	0.86022	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.89534	3.04	0.80722	D	1	P	0.51057	0.941	P	0.48677	0.586	T	0.69194	-0.5209	10	0.72032	D	0.01	.	19.7611	0.96319	0.0:0.0:1.0:0.0	.	574	Q6ZTA4	TRI67_HUMAN	S	572;574;512;574	ENSP00000412124:G572S;ENSP00000355612:G574S;ENSP00000400163:G512S;ENSP00000355613:G574S	ENSP00000355612:G574S	G	+	1	0	TRIM67	229409060	1.000000	0.71417	0.463000	0.27130	0.747000	0.42532	9.658000	0.98594	2.741000	0.93983	0.655000	0.94253	GGT		0.502	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		A	231342437	G	A	231342437	3	1	190	1	0	0	0	0	1	0	0	0	16540	1116	39	1	1746	1	TRIM67	1	231342437	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	45013479	231342437	17908184	6	10859											
LYST	1130	genome.wustl.edu	37	1	235966296	235966296	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:235966296C>A	ENST00000389794.3	-	8	3798	c.3624G>T	c.(3622-3624)caG>caT	p.Q1208H	LYST_ENST00000536965.1_Missense_Mutation_p.Q1208H|LYST_ENST00000389793.2_Missense_Mutation_p.Q1208H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1208					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.Q1208H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACTACAACACTGAGAATCCT	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											88	80	83					1																	235966296		2203	4300	6503	234032919	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3624G>T	1.37:g.235966296C>A	ENSP00000374444:p.Gln1208His		234032919	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055219	0.36277	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63255	-0.03;-0.03;1.05	4.48	1.4	0.22301	.	0.334685	0.32703	N	0.005755	T	0.45094	0.1325	L	0.28740	0.885	0.43394	D	0.995518	B;B	0.18610	0.029;0.019	B;B	0.18561	0.022;0.014	T	0.20107	-1.0285	10	0.37606	T	0.19	.	8.2726	0.31853	0.0:0.7215:0.1295:0.149	.	1208;1208	Q99698-3;Q99698	.;LYST_HUMAN	H	1208	ENSP00000374444:Q1208H;ENSP00000374443:Q1208H;ENSP00000438315:Q1208H	ENSP00000374443:Q1208H	Q	-	3	2	LYST	234032919	0.886000	0.30341	0.972000	0.41901	0.986000	0.74619	0.394000	0.20834	0.198000	0.20407	0.655000	0.94253	CAG		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235966296	C	A	235966296	3	1	190	1	0	0	0	0	1	0	0	0	9128	564	20	3	7965	3	LYST	1	235966296	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	4623859	235966296	13284325	7	10860											
FMN2	56776	genome.wustl.edu	37	1	240370537	240370537	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:240370537C>A	ENST00000319653.9	+	5	2655	c.2425C>A	c.(2425-2427)Cag>Aag	p.Q809K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	809	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.Q952K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGCATCTCACAGCCTCCACC	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											71	66	67					1																	240370537		2203	4300	6503	238437160	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2425C>A	1.37:g.240370537C>A	ENSP00000318884:p.Gln809Lys		238437160	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	6.204	0.405825	0.11754	.	.	ENSG00000155816	ENST00000319653	T	0.32988	1.43	4.65	3.74	0.42951	Actin-binding FH2/DRF autoregulatory (1);	0.368136	0.23351	N	0.049131	T	0.34308	0.0893	L	0.60455	1.87	0.80722	D	1	P	0.50443	0.935	P	0.45753	0.492	T	0.12066	-1.0562	9	.	.	.	.	12.7689	0.57408	0.0:0.9207:0.0:0.0793	.	809	Q9NZ56	FMN2_HUMAN	K	809	ENSP00000318884:Q809K	.	Q	+	1	0	FMN2	238437160	1.000000	0.71417	0.007000	0.13788	0.057000	0.15508	3.102000	0.50291	1.184000	0.42957	0.650000	0.86243	CAG		0.532	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240370537	C	A	240370537	3	1	190	1	0	0	0	0	1	0	0	0	5950	479	17	3	2443	3	FMN2	1	240370537	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	4404241	240370537	8880084	8	10861											
FH	2271	genome.wustl.edu	37	1	241663802	241663802	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:241663802G>C	ENST00000366560.3	-	9	1363	c.1325C>G	c.(1324-1326)aCa>aGa	p.T442R		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	442					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)	p.T442R(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GATCCTTTCTGTATTGGCCTG	0.398			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"E, M"	1	Substitution - Missense(1)	ovary(1)	1											153	147	149					1																	241663802		2203	4300	6503	239730425	SO:0001583	missense	2271	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1325C>G	1.37:g.241663802G>C	ENSP00000355518:p.Thr442Arg		239730425	B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415363	0.25552	.	.	ENSG00000091483	ENST00000366560	D	0.99552	-6.15	5.71	3.8	0.43715	L-Aspartase-like (1);	0.498928	0.22500	N	0.059256	D	0.95050	0.8397	N	0.01146	-0.985	0.58432	D	0.999998	B	0.02656	0.0	B	0.08055	0.003	D	0.93512	0.6854	10	0.02654	T	1	-17.6664	9.3499	0.38131	0.0776:0.0:0.7794:0.143	.	442	P07954	FUMH_HUMAN	R	442	ENSP00000355518:T442R	ENSP00000355518:T442R	T	-	2	0	FH	239730425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.156000	0.58138	1.386000	0.46466	0.655000	0.94253	ACA		0.398	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		C	241663802	G	C	241663802	3	2	190	1	0	0	0	0	1	0	0	0	5875	1377	48	3	215	3	FH	1	241663802	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	1293265	241663802	7586819	9	10862											
OR2AK2	391191	genome.wustl.edu	37	1	248128699	248128699	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr1:248128699T>A	ENST00000366480.3	+	1	165	c.66T>A	c.(64-66)agT>agA	p.S22R	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S22R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GAAATCAAAGTTTTGGGACAG	0.368																																					Melanoma(45;390 1181 23848 28461 41504)											1	Substitution - Missense(1)	ovary(1)	1											131	126	128					1																	248128699		2203	4300	6503	246195322	SO:0001583	missense	391191			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.66T>A	1.37:g.248128699T>A	ENSP00000355436:p.Ser22Arg		246195322	B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	13.54	2.268956	0.40095	.	.	ENSG00000187080	ENST00000366480	T	0.54479	0.57	3.22	-3.84	0.04256	.	.	.	.	.	T	0.50531	0.1621	M	0.74546	2.27	0.09310	N	1	P	0.51791	0.948	P	0.48270	0.572	T	0.48317	-0.9046	9	0.87932	D	0	.	2.24	0.04017	0.1354:0.3808:0.1379:0.3459	.	22	Q8NG84	O2AK2_HUMAN	R	22	ENSP00000355436:S22R	ENSP00000355436:S22R	S	+	3	2	OR2AK2	246195322	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.380000	0.07427	-0.697000	0.05092	-0.473000	0.04963	AGT		0.368	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		A	248128699	T	A	248128699	3	1	190	1	0	0	0	0	1	0	0	0	10986	1722	60	5	68	5	OR2AK2	1	248128699	Missense_Mutation	SNP	T	TCGA-23-1123-01A-01W-0488-09	6464897	248128699	1121922	10	10863											
TTC15	51112	genome.wustl.edu	37	2	3464057	3464057	+	Missense_Mutation	SNP	C	C	T	rs201978278		TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr2:3464057C>T	ENST00000324266.5	+	8	1822	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R543C	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	543					vesicle-mediated transport (GO:0016192)			p.R543C(1)									GTGGAGGTCACGTCTGGGCCG	0.547													C|||	1	0.000199681	0	0	5008	,	,		16310	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2											95	85	88					2																	3464057		2203	4300	6503	3443064	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1627C>T	2.37:g.3464057C>T	ENSP00000324318:p.Arg543Cys		3443064	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	22.2|22.2	4.255633|4.255633	0.80135|0.80135	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624|ENST00000433382	T;T|.	0.67523|.	-0.27;-0.27|.	5.75|5.75	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80319|0.80319	0.4601|0.4601	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84033|0.84033	0.0360|0.0360	10|5	0.87932|.	D|.	0|.	.|.	13.8667|13.8667	0.63592|0.63592	0.0:0.9267:0.0:0.0733|0.0:0.9267:0.0:0.0733	.|.	532;543|.	E7ENL7;Q8WVT3|.	.;TPC12_HUMAN|.	C|M	543;532;543;41|88	ENSP00000371544:R543C;ENSP00000324318:R543C|.	ENSP00000303612:R532C|.	R|T	+|+	1|2	0|0	TTC15|TTC15	3443064|3443064	1.000000|1.000000	0.71417|0.71417	0.877000|0.877000	0.34402|0.34402	0.728000|0.728000	0.41692|0.41692	7.260000|7.260000	0.78391|0.78391	1.434000|1.434000	0.47414|0.47414	0.467000|0.467000	0.42956|0.42956	CGT|ACG		0.547	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		T	3464057	C	T	3464057	3	4	190	1	0	0	0	0	1	0	0	0	16682	536	19	1	1653	1	TTC15	2	3464057	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09		3464057	239735316	11	10864											
XPO1	7514	genome.wustl.edu	37	2	61724139	61724139	+	Silent	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr2:61724139G>A	ENST00000401558.2	-	10	1490	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	XPO1_ENST00000404992.2_Silent_p.L255L|XPO1_ENST00000406957.1_Silent_p.L255L	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	255	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.L255L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GGAACATTCAGGAACTATTTA	0.343			Mis		CLL																																	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	1	Substitution - coding silent(1)	ovary(1)	2											79	81	80					2																	61724139		2203	4300	6503	61577643	SO:0001819	synonymous_variant	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.763C>T	2.37:g.61724139G>A			61577643	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	ENST00000401558.2	37	CCDS33205.1																																																																																				0.343	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		A	61724139	G	A	61724139	2	1	190	1	0	0	0	0	0	0	0	1	17445	991	35	2		2	XPO1	2	61724139	Silent	SNP	G	TCGA-23-1123-01A-01W-0488-09	58260082	61724139	181475234	12	10865											
SMYD1	150572	genome.wustl.edu	37	2	88387386	88387386	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr2:88387386C>T	ENST00000419482.2	+	3	405	c.320C>T	c.(319-321)gCg>gTg	p.A107V	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.A107V|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	107	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.A107V(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CACAGGCTGGCGGCGCGCATC	0.602																																																1	Substitution - Missense(1)	ovary(1)	2											25	23	24					2																	88387386		2199	4296	6495	88168501	SO:0001583	missense	150572			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.320C>T	2.37:g.88387386C>T	ENSP00000393453:p.Ala107Val		88168501	A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	C	8.183	0.794184	0.16327	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	T;T	0.21361	2.01;2.01	4.82	4.82	0.62117	SET domain (2);	0.049513	0.85682	D	0.000000	T	0.08891	0.0220	N	0.17379	0.485	0.80722	D	1	P	0.52842	0.956	B	0.28991	0.097	T	0.22347	-1.0219	10	0.02654	T	1	-20.2177	17.2354	0.86997	0.0:1.0:0.0:0.0	.	107	Q8NB12	SMYD1_HUMAN	V	107	ENSP00000393453:A107V;ENSP00000407888:A107V	ENSP00000393453:A107V	A	+	2	0	SMYD1	88168501	0.996000	0.38824	0.943000	0.38184	0.616000	0.37450	3.412000	0.52679	2.363000	0.80096	0.561000	0.74099	GCG		0.602	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		T	88387386	C	T	88387386	3	4	190	1	0	0	0	0	1	0	0	0	14824	768	27	1	330	1	SMYD1	2	88387386	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	26663247	88387386	154811987	13	10866											
DPP10	57628	genome.wustl.edu	37	2	116510874	116510874	+	Splice_Site	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr2:116510874G>A	ENST00000410059.1	+	11	1554		c.e11+1		DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.?(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTAGTAAAGTGAGTATAAT	0.373																																																1	Unknown(1)	ovary(1)	2											98	92	94					2																	116510874		2203	4300	6503	116227344	SO:0001630	splice_region_variant	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1074+1G>A	2.37:g.116510874G>A			116227344	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566750	0.45694	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6852	0.88255	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	116227344	1.000000	0.71417	0.782000	0.31804	0.205000	0.24178	9.236000	0.95360	2.660000	0.90430	0.650000	0.86243	.		0.373	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Intron	A	116510874	G	A	116510874	5	1	190	1	0	0	0	0	0	0	1	0	4727	1043	36	2	1288	2	DPP10	2	116510874	Splice_Site	SNP	G	TCGA-23-1123-01A-01W-0488-09	28123488	116510874	126688499	14	10867											
THSD7B	80731	genome.wustl.edu	37	2	137990529	137990529	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr2:137990529C>A	ENST00000409968.1	+	9	2154	c.1976C>A	c.(1975-1977)tCc>tAc	p.S659Y	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S659Y|THSD7B_ENST00000413152.2_Missense_Mutation_p.S628Y			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	659	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.S659Y(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATGACCATTCCTGTATGCAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											114	114	114					2																	137990529		1995	4164	6159	137706999	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1976C>A	2.37:g.137990529C>A	ENSP00000387145:p.Ser659Tyr		137706999		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	16.64	3.180431	0.57800	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.54279	0.58;0.58;0.58	5.65	5.65	0.86999	.	0.147403	0.64402	D	0.000006	T	0.69070	0.3070	M	0.64404	1.975	0.80722	D	1	D;D	0.64830	0.994;0.988	D;P	0.68943	0.961;0.862	T	0.70528	-0.4847	10	0.87932	D	0	.	15.2101	0.73214	0.0:0.9306:0.0:0.0694	.	659;628	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Y	659;659;628	ENSP00000387145:S659Y;ENSP00000272643:S659Y;ENSP00000413841:S628Y	ENSP00000272643:S659Y	S	+	2	0	THSD7B	137706999	0.995000	0.38212	0.999000	0.59377	0.236000	0.25371	3.845000	0.55880	2.826000	0.97356	0.491000	0.48974	TCC		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	137990529	C	A	137990529	3	1	190	1	0	0	0	0	1	0	0	0	15880	855	30	3	1913	3	THSD7B	2	137990529	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	21479655	137990529	105208844	15	10868											
CCDC148	130940	genome.wustl.edu	37	2	159035456	159035456	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr2:159035456C>A	ENST00000283233.5	-	12	1736	c.1423G>T	c.(1423-1425)Gtg>Ttg	p.V475L	CCDC148_ENST00000409187.1_Missense_Mutation_p.V484L|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	475								p.V475L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAGGGCCACTTCCTTTTTC	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											99	98	98					2																	159035456		2203	4300	6503	158743702	SO:0001583	missense	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1423G>T	2.37:g.159035456C>A	ENSP00000283233:p.Val475Leu		158743702	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	8.459	0.854791	0.17106	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	T;T	0.21543	2.0;2.01	5.93	3.76	0.43208	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.44492	D	0.997438	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.13710	-1.0499	9	0.28530	T	0.3	0.0071	8.3907	0.32526	0.2817:0.6362:0.0:0.0821	.	484;475	B8ZZV3;Q8NFR7	.;CC148_HUMAN	L	475;484	ENSP00000283233:V475L;ENSP00000386674:V484L	ENSP00000283233:V475L	V	-	1	0	CCDC148	158743702	0.000000	0.05858	0.966000	0.40874	0.317000	0.28152	-0.204000	0.09425	1.455000	0.47813	0.655000	0.94253	GTG		0.378	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		A	159035456	C	A	159035456	3	1	190	1	0	0	0	0	1	0	0	0	2782	565	20	3	364	3	CCDC148	2	159035456	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	21044927	159035456	84163917	16	10869											
PKP4	8502	genome.wustl.edu	37	2	159481794	159481794	+	Silent	SNP	G	G	A	rs200934987		TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr2:159481794G>A	ENST00000389759.3	+	7	1120	c.1008G>A	c.(1006-1008)tcG>tcA	p.S336S	PKP4_ENST00000389757.3_Silent_p.S336S	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	336				S -> V (in Ref. 1; CAA57478). {ECO:0000305}.	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.S336S(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						TGGGGTCGTCGTCCCCCAAAC	0.592										HNSCC(62;0.18)																																						1	Substitution - coding silent(1)	ovary(1)	2											70	63	66					2																	159481794		2203	4300	6503	159190040	SO:0001819	synonymous_variant	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.1008G>A	2.37:g.159481794G>A			159190040	Q86W91	Silent	SNP	ENST00000389759.3	37	CCDS33305.1																																																																																				0.592	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			A	159481794	G	A	159481794	2	1	190	1	0	0	0	0	0	0	0	1	11987	1132	40	1		1	PKP4	2	159481794	Silent	SNP	G	TCGA-23-1123-01A-01W-0488-09	446338	159481794	83717579	17	10870											
FAM171B	165215	genome.wustl.edu	37	2	187627354	187627354	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr2:187627354A>C	ENST00000304698.5	+	8	2488	c.2285A>C	c.(2284-2286)cAc>cCc	p.H762P		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	762						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.H762P(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTTTAAGGCACATCCTAGAT	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											75	77	77					2																	187627354		2203	4300	6503	187335599	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2285A>C	2.37:g.187627354A>C	ENSP00000304108:p.His762Pro		187335599	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.630778	0.28978	.	.	ENSG00000144369	ENST00000304698	T	0.26957	1.7	6.02	4.81	0.61882	.	0.143965	0.64402	D	0.000006	T	0.14527	0.0351	N	0.10874	0.06	0.47407	D	0.999414	B;B	0.15473	0.013;0.013	B;B	0.18871	0.023;0.023	T	0.08994	-1.0695	10	0.27082	T	0.32	-18.4059	13.0247	0.58808	0.8658:0.1342:0.0:0.0	.	762;763	Q6P995;A8K122	F171B_HUMAN;.	P	762	ENSP00000304108:H762P	ENSP00000304108:H762P	H	+	2	0	FAM171B	187335599	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	4.628000	0.61282	2.299000	0.77371	0.528000	0.53228	CAC		0.498	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		C	187627354	A	C	187627354	3	2	190	1	0	0	0	0	1	0	0	0	5491	159	6	5	2315	5	FAM171B	2	187627354	Missense_Mutation	SNP	A	TCGA-23-1123-01A-01W-0488-09	28145560	187627354	55572019	18	10871											
BMPR2	659	genome.wustl.edu	37	2	203383770	203383770	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr2:203383770C>A	ENST00000374580.4	+	6	1386	c.847C>A	c.(847-849)Ccc>Acc	p.P283T	BMPR2_ENST00000374574.2_Missense_Mutation_p.P283T	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.P283T(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GGAGTACTATCCCAATGTAAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	2											114	103	107					2																	203383770		2203	4300	6503	203092015	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.847C>A	2.37:g.203383770C>A	ENSP00000363708:p.Pro283Thr		203092015	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847144	0.51164	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.94046	-3.34;-3.34	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100972	0.64402	D	0.000001	D	0.94850	0.8336	M	0.73372	2.23	0.58432	D	0.999999	P;P	0.49696	0.565;0.927	B;P	0.53035	0.213;0.716	D	0.95000	0.8142	10	0.72032	D	0.01	.	14.6084	0.68498	0.0:0.7335:0.2665:0.0	.	283;283	Q13161;Q13873	.;BMPR2_HUMAN	T	283	ENSP00000363708:P283T;ENSP00000363702:P283T	ENSP00000363702:P283T	P	+	1	0	BMPR2	203092015	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.154000	0.50693	2.666000	0.90696	0.650000	0.86243	CCC		0.453	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		A	203383770	C	A	203383770	3	1	190	1	0	0	0	0	1	0	0	0	1471	855	30	3	869	3	BMPR2	2	203383770	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	15756416	203383770	39815603	19	10872											
FANCD2	2177	genome.wustl.edu	37	3	10106040	10106040	+	Splice_Site	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr3:10106040G>T	ENST00000419585.1	+	22	2109	c.1948G>T	c.(1948-1950)Gaa>Taa	p.E650*	FANCD2_ENST00000383807.1_Splice_Site_p.E650*|FANCD2_ENST00000287647.3_Splice_Site_p.E650*|FANCD2_ENST00000383806.1_Splice_Site_p.E650*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	650					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.E650*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CTTCCTGAAGGAATGGGTTGG	0.453			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	1	Substitution - Nonsense(1)	ovary(1)	3											114	109	111					3																	10106040		2202	4280	6482	10081040	SO:0001630	splice_region_variant	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1948-1G>T	3.37:g.10106040G>T			10081040	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	40	8.498528	0.98838	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.58	5.58	0.84498	.	0.289991	0.42053	D	0.000779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.8721	0.46889	0.0861:0.0:0.9139:0.0	.	.	.	.	X	650	.	ENSP00000287647:E650X	E	+	1	0	FANCD2	10081040	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	4.394000	0.59671	2.808000	0.96608	0.585000	0.79938	GAA		0.453	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Nonsense_Mutation	T	10106040	G	T	10106040	5	4	190	1	0	0	0	0	0	0	1	0	5665	1188	41	3	2030	3	FANCD2	3	10106040	Splice_Site	SNP	G	TCGA-23-1123-01A-01W-0488-09		10106040	187916390	20	10873											
QRICH1	54870	genome.wustl.edu	37	3	49069660	49069660	+	Silent	SNP	T	T	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr3:49069660T>C	ENST00000395443.2	-	9	2566	c.2094A>G	c.(2092-2094)ccA>ccG	p.P698P	QRICH1_ENST00000479449.1_5'Flank|IMPDH2_ENST00000326739.4_5'Flank|RP13-131K19.6_ENST00000607245.1_RNA|QRICH1_ENST00000424300.1_Silent_p.P698P|QRICH1_ENST00000357496.2_Silent_p.P698P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	698						nucleus (GO:0005634)		p.P698P(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GACATCTCAATGGATTCTCTG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	3											247	208	221					3																	49069660		2203	4300	6503	49044664	SO:0001819	synonymous_variant	54870				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2094A>G	3.37:g.49069660T>C			49044664	Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	CCDS2787.1																																																																																				0.458	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		C	49069660	T	C	49069660	2	2	190	1	0	0	0	0	0	0	0	1	12882	1451	51	4		4	QRICH1	3	49069660	Silent	SNP	T	TCGA-23-1123-01A-01W-0488-09	38963620	49069660	148952770	21	10874											
CAMKV	79012	genome.wustl.edu	37	3	49899251	49899251	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr3:49899251C>T	ENST00000477224.1	-	4	753	c.275G>A	c.(274-276)cGc>cAc	p.R92H	CAMKV_ENST00000463537.1_Missense_Mutation_p.R92H|CAMKV_ENST00000488336.1_Missense_Mutation_p.R92H|CAMKV_ENST00000466940.1_Missense_Mutation_p.R92H|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000296471.7_Missense_Mutation_p.R92H|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000467248.1_Missense_Mutation_p.R17H			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.R92H(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTACTCCTTGCGGGTCACAAA	0.587																																																2	Substitution - Missense(2)	ovary(2)	3											60	58	59					3																	49899251		2203	4300	6503	49874255	SO:0001583	missense	79012			BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.275G>A	3.37:g.49899251C>T	ENSP00000419195:p.Arg92His		49874255	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923739	0.73213	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.66280	2.75;2.75;1.04;2.75;-0.2;2.75	4.94	4.94	0.65067	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	0.43416	D	0.000577	T	0.67249	0.2873	N	0.17723	0.515	0.51767	D	0.999939	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.928;0.991;0.959;0.97;0.952	T	0.71540	-0.4562	10	0.59425	D	0.04	.	16.3199	0.82945	0.0:1.0:0.0:0.0	.	92;55;92;92;92	E7ETR1;B4DMF2;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;CAMKV_HUMAN	H	92;92;92;92;17;92	ENSP00000296471:R92H;ENSP00000418809:R92H;ENSP00000417614:R92H;ENSP00000419195:R92H;ENSP00000420053:R17H;ENSP00000420724:R92H	ENSP00000296471:R92H	R	-	2	0	CAMKV	49874255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.650000	0.61440	2.459000	0.83118	0.462000	0.41574	CGC		0.587	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		T	49899251	C	T	49899251	3	4	190	1	0	0	0	0	1	0	0	0	2608	768	27	1	1262	1	CAMKV	3	49899251	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	829591	49899251	148123179	22	10875											
DOCK3	1795	genome.wustl.edu	37	3	51418727	51418727	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr3:51418727G>A	ENST00000266037.9	+	53	5853	c.5830G>A	c.(5830-5832)Gtc>Atc	p.V1944I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1944					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1944I(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGTCTGCCGTCCTGGACTC	0.632																																																1	Substitution - Missense(1)	ovary(1)	3											67	80	76					3																	51418727		2155	4258	6413	51393767	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5830G>A	3.37:g.51418727G>A	ENSP00000266037:p.Val1944Ile		51393767	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779546	0.49891	.	.	ENSG00000088538	ENST00000266037	T	0.05382	3.45	6.17	6.17	0.99709	.	0.294963	0.32852	N	0.005568	T	0.07503	0.0189	L	0.36672	1.1	0.39183	D	0.962814	B	0.33857	0.429	B	0.25140	0.058	T	0.32903	-0.9889	10	0.35671	T	0.21	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1944	Q8IZD9	DOCK3_HUMAN	I	1944	ENSP00000266037:V1944I	ENSP00000266037:V1944I	V	+	1	0	DOCK3	51393767	1.000000	0.71417	0.916000	0.36221	0.982000	0.71751	7.198000	0.77823	2.941000	0.99782	0.655000	0.94253	GTC		0.632	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51418727	G	A	51418727	3	1	190	1	0	0	0	0	1	0	0	0	4688	1145	40	1	6040	1	DOCK3	3	51418727	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	1519476	51418727	146603703	23	10876											
CPB1	1360	genome.wustl.edu	37	3	148558742	148558742	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr3:148558742C>T	ENST00000491148.1	+	6	788	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	CPB1_ENST00000282957.4_Missense_Mutation_p.R152C			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	152						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R152C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATTTGAGGGACGCGCTATTTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											145	127	133					3																	148558742		2203	4300	6503	150041432	SO:0001583	missense	1360			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.454C>T	3.37:g.148558742C>T	ENSP00000417222:p.Arg152Cys		150041432	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729464	0.48833	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.28895	1.59;1.59	5.29	3.44	0.39384	Peptidase M14, carboxypeptidase A (3);	0.171581	0.51477	D	0.000097	T	0.69396	0.3106	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.80993	-0.1134	10	0.87932	D	0	.	13.9431	0.64069	0.2933:0.7067:0.0:0.0	.	152	P15086	CBPB1_HUMAN	C	152	ENSP00000417222:R152C;ENSP00000282957:R152C	ENSP00000282957:R152C	R	+	1	0	CPB1	150041432	0.996000	0.38824	0.626000	0.29213	0.501000	0.33797	3.484000	0.53201	0.561000	0.29186	0.655000	0.94253	CGC		0.428	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		T	148558742	C	T	148558742	3	4	190	1	0	0	0	0	1	0	0	0	3796	536	19	1	472	1	CPB1	3	148558742	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	97140015	148558742	49463688	24	10877											
GC	2638	genome.wustl.edu	37	4	72629573	72629573	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr4:72629573A>G	ENST00000273951.8	-	5	897	c.554T>C	c.(553-555)aTg>aCg	p.M185T	GC_ENST00000504199.1_Missense_Mutation_p.M204T|GC_ENST00000513476.1_Missense_Mutation_p.M185T|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	185	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.M185T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GGACCCTACCATAGAAAGATA	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											106	112	110					4																	72629573		2203	4300	6503	72848437	SO:0001583	missense	2638			L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.554T>C	4.37:g.72629573A>G	ENSP00000273951:p.Met185Thr		72848437	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.411857	0.62511	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.71934	-0.61;-0.61;-0.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.77616	2.38	0.51767	D	0.999935	D;D	0.71674	0.993;0.998	D;D	0.87578	0.996;0.998	D	0.86052	0.1526	10	0.66056	D	0.02	.	15.5538	0.76173	1.0:0.0:0.0:0.0	.	204;185	D6RAK8;D6RF35	.;.	T	185;204;185	ENSP00000273951:M185T;ENSP00000421725:M204T;ENSP00000426683:M185T	ENSP00000273951:M185T	M	-	2	0	GC	72848437	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	6.137000	0.71710	2.205000	0.71048	0.533000	0.62120	ATG		0.363	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			G	72629573	A	G	72629573	3	3	190	1	0	0	0	0	1	0	0	0	6282	217	8	4	902	4	GC	4	72629573	Missense_Mutation	SNP	A	TCGA-23-1123-01A-01W-0488-09		72629573	118524703	25	10878											
AFP	174	genome.wustl.edu	37	4	74310761	74310761	+	Silent	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr4:74310761C>T	ENST00000395792.2	+	7	865	c.765C>T	c.(763-765)atC>atT	p.I255I	AFP_ENST00000226359.2_Silent_p.I255I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	255	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.I255I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTACTGAAATCCAGAAACTAG	0.378									Alpha-Fetoprotein, Hereditary Persistence of																																							1	Substitution - coding silent(1)	ovary(1)	4											88	87	87					4																	74310761		2203	4300	6503	74529625	SO:0001819	synonymous_variant	174	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.765C>T	4.37:g.74310761C>T			74529625	B2RBU3	Silent	SNP	ENST00000395792.2	37	CCDS3556.1																																																																																				0.378	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			T	74310761	C	T	74310761	2	4	190	1	0	0	0	0	0	0	0	1	363	845	30	2		2	AFP	4	74310761	Silent	SNP	C	TCGA-23-1123-01A-01W-0488-09	1681188	74310761	116843515	26	10879											
RRH	10692	genome.wustl.edu	37	4	110765294	110765294	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr4:110765294G>C	ENST00000317735.4	+	7	989	c.955G>C	c.(955-957)Gtg>Ctg	p.V319L		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	319					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.V319L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AACAATGCCTGTGACAAGTAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											167	159	162					4																	110765294		2203	4300	6503	110984743	SO:0001583	missense	10692			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"GPCR / Class A : Opsin receptors"	10450	protein-coding gene	gene with protein product	"peropsin"	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.955G>C	4.37:g.110765294G>C	ENSP00000314992:p.Val319Leu		110984743	A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	G	5.256	0.232658	0.09969	.	.	ENSG00000180245	ENST00000317735	T	0.37915	1.17	5.9	1.26	0.21427	.	0.551296	0.18332	N	0.144465	T	0.13970	0.0338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19257	-1.0311	10	0.26408	T	0.33	.	5.4253	0.16423	0.4141:0.1408:0.4451:0.0	.	319	O14718	OPSX_HUMAN	L	319	ENSP00000314992:V319L	ENSP00000314992:V319L	V	+	1	0	RRH	110984743	0.004000	0.15560	0.002000	0.10522	0.156000	0.22039	0.348000	0.20031	0.412000	0.25729	0.655000	0.94253	GTG		0.368	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		C	110765294	G	C	110765294	3	2	190	1	0	0	0	0	1	0	0	0	13683	1377	48	3	981	3	RRH	4	110765294	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	36454533	110765294	80388982	27	10880											
FBXL7	23194	genome.wustl.edu	37	5	15928350	15928350	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr5:15928350C>T	ENST00000504595.1	+	3	960	c.479C>T	c.(478-480)aCg>aTg	p.T160M	FBXL7_ENST00000510662.1_Missense_Mutation_p.T113M|FBXL7_ENST00000329673.7_Missense_Mutation_p.T148M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	160					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.T160M(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATCCGCCTGACGGGCGAGACC	0.657																																																1	Substitution - Missense(1)	ovary(1)	5											19	23	22					5																	15928350		2087	4213	6300	15981350	SO:0001583	missense	23194			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.479C>T	5.37:g.15928350C>T	ENSP00000423630:p.Thr160Met		15981350	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389583	0.42410	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.10382	2.88;2.88;2.88	5.36	4.5	0.54988	F-box domain, Skp2-like (1);	0.092711	0.85682	N	0.000000	T	0.09818	0.0241	L	0.36672	1.1	0.50632	D	0.999887	B	0.18968	0.032	B	0.11329	0.006	T	0.08806	-1.0704	10	0.44086	T	0.13	.	11.1644	0.48535	0.0:0.8515:0.0:0.1485	.	160	Q9UJT9	FBXL7_HUMAN	M	160;113;148	ENSP00000423630:T160M;ENSP00000425184:T113M;ENSP00000329632:T148M	ENSP00000329632:T148M	T	+	2	0	FBXL7	15981350	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	2.700000	0.47085	1.274000	0.44362	0.561000	0.74099	ACG		0.657	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		T	15928350	C	T	15928350	3	4	190	1	0	0	0	0	1	0	0	0	5724	536	19	1	489	1	FBXL7	5	15928350	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09		15928350	164986910	28	10881											
PLCXD3	345557	genome.wustl.edu	37	5	41313739	41313739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr5:41313739C>A	ENST00000377801.3	-	3	1020	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.E316*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	316					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.E316*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCTTCTCCTTCATCAAAGACA	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	5											122	109	113					5																	41313739		2203	4300	6503	41349496	SO:0001587	stop_gained	345557				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.946G>T	5.37:g.41313739C>A	ENSP00000367032:p.Glu316*		41349496	A6NL04	Nonsense_Mutation	SNP	ENST00000377801.3	37	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	37	6.047347	0.97236	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	.	0.110420	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-16.8443	19.7362	0.96205	0.0:1.0:0.0:0.0	.	.	.	.	X	316	.	ENSP00000333751:E316X	E	-	1	0	PLCXD3	41349496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.395000	0.79876	2.678000	0.91216	0.655000	0.94253	GAA		0.408	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		A	41313739	C	A	41313739	4	1	190	1	0	0	0	0	0	1	0	0	12043	835	29	3	23	3	PLCXD3	5	41313739	Nonsense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	25385389	41313739	139601521	29	10882											
VCAN	1462	genome.wustl.edu	37	5	82834217	82834217	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr5:82834217T>A	ENST00000265077.3	+	8	5960	c.5395T>A	c.(5395-5397)Tta>Ata	p.L1799I	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.L812I|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1799	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.L1799I(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACAAATACATTAGAAAATTT	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											51	55	54					5																	82834217		2203	4299	6502	82869973	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5395T>A	5.37:g.82834217T>A	ENSP00000265077:p.Leu1799Ile		82869973	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478481	0.26511	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85088	-1.89;-1.94;3.21	5.82	3.35	0.38373	.	0.816597	0.10695	N	0.644709	T	0.79131	0.4394	L	0.52364	1.645	0.09310	N	0.999999	P;P	0.38078	0.617;0.483	B;B	0.33196	0.159;0.076	T	0.59721	-0.7401	10	0.16420	T	0.52	.	11.9	0.52678	0.0:0.0:0.3525:0.6475	.	812;1799	P13611-2;P13611	.;CSPG2_HUMAN	I	1799;812;812	ENSP00000265077:L1799I;ENSP00000340062:L812I;ENSP00000426251:L812I	ENSP00000265077:L1799I	L	+	1	2	VCAN	82869973	0.014000	0.17966	0.005000	0.12908	0.026000	0.11368	1.904000	0.39868	0.404000	0.25506	0.533000	0.62120	TTA		0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82834217	T	A	82834217	3	1	190	1	0	0	0	0	1	0	0	0	17138	1490	52	5	5421	5	VCAN	5	82834217	Missense_Mutation	SNP	T	TCGA-23-1123-01A-01W-0488-09	41520478	82834217	98081043	30	10883											
SFXN1	94081	genome.wustl.edu	37	5	174940555	174940555	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr5:174940555T>C	ENST00000321442.5	+	7	940	c.686T>C	c.(685-687)gTt>gCt	p.V229A		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	229					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.V229A(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCACGCAAGTTGTCGTGTCC	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											107	96	100					5																	174940555		2203	4300	6503	174873161	SO:0001583	missense	94081			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.686T>C	5.37:g.174940555T>C	ENSP00000316905:p.Val229Ala		174873161	B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359838	0.61403	.	.	ENSG00000164466	ENST00000321442	T	0.37058	1.22	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	H	0.94542	3.55	0.80722	D	1	P	0.51791	0.948	P	0.60068	0.868	T	0.77067	-0.2725	10	0.66056	D	0.02	-32.8627	14.0874	0.64968	0.0:0.0:0.0:1.0	.	229	Q9H9B4	SFXN1_HUMAN	A	229	ENSP00000316905:V229A	ENSP00000316905:V229A	V	+	2	0	SFXN1	174873161	1.000000	0.71417	0.079000	0.20413	0.020000	0.10135	7.787000	0.85759	1.971000	0.57363	0.379000	0.24179	GTT		0.532	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		C	174940555	T	C	174940555	3	2	190	1	0	0	0	0	1	0	0	0	14197	1725	60	4	708	4	SFXN1	5	174940555	Missense_Mutation	SNP	T	TCGA-23-1123-01A-01W-0488-09	92106338	174940555	5974705	31	10884											
UIMC1	51720	genome.wustl.edu	37	5	176338311	176338311	+	Splice_Site	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr5:176338311C>T	ENST00000377227.4	-	11	1809		c.e11+1		UIMC1_ENST00000511320.1_Splice_Site|UIMC1_ENST00000506128.1_Splice_Site|UIMC1_ENST00000503273.1_Splice_Site|UIMC1_ENST00000377219.2_Splice_Site			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1						double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.?(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCTACTTACTTGTCAATGT	0.393																																																1	Unknown(1)	ovary(1)	5											140	131	134					5																	176338311		2203	4300	6503	176270917	SO:0001630	splice_region_variant	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1676+1G>A	5.37:g.176338311C>T			176270917	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Splice_Site	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243015	0.79912	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000323774	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5308	0.87814	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UIMC1	176270917	1.000000	0.71417	0.982000	0.44146	0.862000	0.49288	4.509000	0.60448	2.551000	0.86045	0.650000	0.86243	.		0.393	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290	Intron	T	176338311	C	T	176338311	5	4	190	1	0	0	0	0	0	0	1	0	16971	579	20	2	502	2	UIMC1	5	176338311	Splice_Site	SNP	C	TCGA-23-1123-01A-01W-0488-09	1397756	176338311	4576949	32	10885											
C6orf146	222826	genome.wustl.edu	37	6	4070003	4070003	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr6:4070003G>A	ENST00000274673.3	-	7	857	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	152								p.P152S(1)									TCAGCATAGGGCCAGCAGAGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											95	87	89					6																	4070003		2203	4300	6503	4015002	SO:0001583	missense	222826			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.454C>T	6.37:g.4070003G>A	ENSP00000274673:p.Pro152Ser		4015002	Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	9.148	1.015640	0.19355	.	.	ENSG00000145975	ENST00000274673;ENST00000470599	T	0.26660	1.72	5.64	3.88	0.44766	.	0.179687	0.37348	N	0.002134	T	0.08447	0.0210	N	0.20986	0.625	0.30120	N	0.805789	B	0.29301	0.241	B	0.35971	0.215	T	0.12091	-1.0561	10	0.87932	D	0	-9.4794	8.4504	0.32866	0.1721:0.0:0.8279:0.0	.	152	Q8IXS0	CF146_HUMAN	S	152;280	ENSP00000274673:P152S	ENSP00000274673:P152S	P	-	1	0	C6orf146	4015002	0.996000	0.38824	0.992000	0.48379	0.403000	0.30841	0.293000	0.19029	0.949000	0.37715	-0.143000	0.13931	CCC		0.403	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		A	4070003	G	A	4070003	3	1	190	1	0	0	0	0	1	0	0	0	2335	1203	42	2	1076	2	C6orf146	6	4070003	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09		4070003	167045064	33	10886											
TULP1	7287	genome.wustl.edu	37	6	35477519	35477519	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr6:35477519C>G	ENST00000229771.6	-	7	689	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	TULP1_ENST00000322263.4_Missense_Mutation_p.E151Q	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	204					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.E204Q(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						TTGTCGGCCTCCCCAGACCCT	0.597																																					GBM(55;1027 1091 11115 23439)											1	Substitution - Missense(1)	ovary(1)	6											117	116	116					6																	35477519		2203	4300	6503	35585497	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.610G>C	6.37:g.35477519C>G	ENSP00000229771:p.Glu204Gln		35585497	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047308	0.75846	.	.	ENSG00000112041	ENST00000229771;ENST00000322263;ENST00000545327;ENST00000428978	D;D;T	0.82984	-1.67;-1.6;-0.18	4.16	4.16	0.48862	.	0.389460	0.23760	N	0.044821	D	0.83783	0.5329	L	0.59436	1.845	0.41873	D	0.990286	D;D	0.69078	0.993;0.997	D;P	0.63033	0.91;0.815	D	0.83619	0.0138	10	0.42905	T	0.14	-29.3315	11.8129	0.52194	0.0:1.0:0.0:0.0	.	151;204	O00294-2;O00294	.;TULP1_HUMAN	Q	204;151;151;156	ENSP00000229771:E204Q;ENSP00000319414:E151Q;ENSP00000406765:E156Q	ENSP00000229771:E204Q	E	-	1	0	TULP1	35585497	0.723000	0.28027	0.803000	0.32268	0.042000	0.13812	2.732000	0.47352	2.151000	0.67156	0.462000	0.41574	GAG		0.597	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			G	35477519	C	G	35477519	3	3	190	1	0	0	0	0	1	0	0	0	16773	864	30	3	1054	3	TULP1	6	35477519	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	31407516	35477519	135637548	34	10887											
SFRS18	25957	genome.wustl.edu	37	6	99857075	99857075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr6:99857075delG	ENST00000369239.5	-	6	851	c.647delC	c.(646-648)cctfs	p.P216fs	PNISR_ENST00000466057.1_5'Flank|PNISR_ENST00000438806.1_Frame_Shift_Del_p.P216fs	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	216	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P216fs*2(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTGCTTCACAGGAAGTGCAAT	0.443																																																1	Deletion - Frameshift(1)	ovary(1)	6											87	83	84					6																	99857075		2203	4300	6503	99963796	SO:0001589	frameshift_variant	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.647delC	6.37:g.99857075delG	ENSP00000358242:p.Pro216fs		99963796	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Frame_Shift_Del	DEL	ENST00000369239.5	37	CCDS5043.1																																																																																				0.443	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		-	99857075	G	-	99857075	7	5	190	1	0	1	0	1	0	0	0	0	14177	1000	35	0	1798	0	SFRS18	6	99857075	Frame_Shift_Del	DEL	G	TCGA-23-1123-01A-01W-0488-09	64379556	99857075	71257992	35	10888											
BCLAF1	9774	genome.wustl.edu	37	6	136597310	136597310	+	Missense_Mutation	SNP	A	A	T	rs369686402		TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr6:136597310A>T	ENST00000531224.1	-	5	1605	c.1353T>A	c.(1351-1353)gaT>gaA	p.D451E	BCLAF1_ENST00000527536.1_Missense_Mutation_p.D451E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D449E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D449E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D449E|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	451					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D451E(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCTAAATCCATCACTTTCTC	0.363																																					Colon(142;1534 1789 5427 7063 28491)											1	Substitution - Missense(1)	ovary(1)	6											142	144	143					6																	136597310		2203	4300	6503	136639003	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1353T>A	6.37:g.136597310A>T	ENSP00000435210:p.Asp451Glu		136639003	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	0.968	-0.700945	0.03255	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57	5.21	2.63	0.31362	.	0.087906	0.49305	D	0.000154	T	0.01124	0.0037	N	0.02916	-0.46	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.45338	-0.9268	10	0.05525	T	0.97	-11.4404	5.5787	0.17238	0.6179:0.0:0.076:0.3061	.	449;449;451	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	E	451;449;451;449;449;451	ENSP00000435210:D451E;ENSP00000229446:D449E;ENSP00000435441:D451E;ENSP00000434826:D449E;ENSP00000376159:D449E;ENSP00000431734:D451E	ENSP00000229446:D449E	D	-	3	2	BCLAF1	136639003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.073000	0.41519	0.935000	0.37341	0.524000	0.50904	GAT		0.363	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136597310	A	T	136597310	3	4	190	1	0	0	0	0	1	0	0	0	1383	214	8	5	1445	5	BCLAF1	6	136597310	Missense_Mutation	SNP	A	TCGA-23-1123-01A-01W-0488-09	36740235	136597310	34517757	36	10889											
SNX8	29886	genome.wustl.edu	37	7	2304007	2304007	+	Silent	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr7:2304007G>T	ENST00000222990.3	-	6	750	c.708C>A	c.(706-708)cgC>cgA	p.R236R		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	236					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.R236R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGGCCCTGTCGCGAAGCTTGT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	7											81	72	75					7																	2304007		2203	4300	6503	2270533	SO:0001819	synonymous_variant	29886			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.708C>A	7.37:g.2304007G>T			2270533	A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	CCDS5331.1																																																																																				0.552	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			T	2304007	G	T	2304007	2	4	190	1	0	0	0	0	0	0	0	1	14911	1074	38	3		3	SNX8	7	2304007	Silent	SNP	G	TCGA-23-1123-01A-01W-0488-09		2304007	156834656	37	10890											
FIGNL1	63979	genome.wustl.edu	37	7	50514775	50514775	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr7:50514775C>A	ENST00000419119.1	-	2	1764	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	FIGNL1_ENST00000433017.1_Missense_Mutation_p.D71Y|FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000395556.2_Missense_Mutation_p.D71Y|FIGNL1_ENST00000356889.4_Missense_Mutation_p.D71Y			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	71					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.D71Y(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGTCAGAATCAATAATTGCA	0.368																																																1	Substitution - Missense(1)	ovary(1)	7											85	82	83					7																	50514775		2203	4300	6503	50482269	SO:0001583	missense	63979			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.211G>T	7.37:g.50514775C>A	ENSP00000410811:p.Asp71Tyr		50482269	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045216	0.75846	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590;ENST00000422854;ENST00000440350	T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48843	-0.8999	10	0.87932	D	0	-23.2158	19.4655	0.94935	0.0:1.0:0.0:0.0	.	71	Q6PIW4	FIGL1_HUMAN	Y	71	ENSP00000349356:D71Y;ENSP00000378924:D71Y;ENSP00000399997:D71Y;ENSP00000410811:D71Y;ENSP00000394070:D71Y;ENSP00000403012:D71Y;ENSP00000388471:D71Y	ENSP00000349356:D71Y	D	-	1	0	FIGNL1	50482269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.356000	0.79445	2.680000	0.91292	0.563000	0.77884	GAT		0.368	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		A	50514775	C	A	50514775	3	1	190	1	0	0	0	0	1	0	0	0	5892	826	29	3	1817	3	FIGNL1	7	50514775	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	48210768	50514775	108623888	38	10891											
C7orf42	55069	genome.wustl.edu	37	7	66410186	66410186	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr7:66410186G>T	ENST00000341567.4	+	3	638	c.383G>T	c.(382-384)gGg>gTg	p.G128V		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	128						integral component of membrane (GO:0016021)		p.G128V(1)									CCCTTCGGAGGGTATTCCCGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	7											98	96	96					7																	66410186		2203	4300	6503	66047621	SO:0001583	missense	55069				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.383G>T	7.37:g.66410186G>T	ENSP00000340668:p.Gly128Val		66047621	Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629738	0.87660	.	.	ENSG00000106609	ENST00000341567;ENST00000424964	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	D	0.64776	0.929	T	0.69038	-0.5251	9	0.72032	D	0.01	-5.0415	19.0145	0.92888	0.0:0.0:1.0:0.0	.	128	Q9NWD8	CG042_HUMAN	V	128	.	ENSP00000340668:G128V	G	+	2	0	C7orf42	66047621	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	9.394000	0.97261	2.735000	0.93741	0.655000	0.94253	GGG		0.567	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		T	66410186	G	T	66410186	3	4	190	1	0	0	0	0	1	0	0	0	2392	1232	43	3	389	3	C7orf42	7	66410186	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	15895411	66410186	92728477	39	10892											
HEPACAM2	253012	genome.wustl.edu	37	7	92844715	92844715	+	Splice_Site	SNP	A	A	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr7:92844715A>T	ENST00000394468.2	-	3	791	c.714T>A	c.(712-714)taT>taA	p.Y238*	HEPACAM2_ENST00000341723.4_Splice_Site_p.Y226*|HEPACAM2_ENST00000440868.1_Splice_Site_p.Y226*|HEPACAM2_ENST00000453812.2_Splice_Site_p.Y261*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	238	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.Y226*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TAAACTTACAATATATGATGG	0.358																																																1	Substitution - Nonsense(1)	ovary(1)	7											70	69	69					7																	92844715		2203	4300	6503	92682651	SO:0001630	splice_region_variant	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.715+1T>A	7.37:g.92844715A>T			92682651	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Nonsense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.950620	0.92660	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	.	.	.	5.07	-3.61	0.04556	.	0.170513	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-12.8736	13.4712	0.61283	0.4715:0.0:0.5285:0.0	.	.	.	.	X	238;226;226;261	.	ENSP00000340532:Y226X	Y	-	3	2	HEPACAM2	92682651	0.966000	0.33281	0.973000	0.42090	0.957000	0.61999	0.096000	0.15147	-0.484000	0.06763	0.482000	0.46254	TAT		0.358	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	Nonsense_Mutation	T	92844715	A	T	92844715	5	4	190	1	0	0	0	0	0	0	1	0	7053	115	4	5	706	5	HEPACAM2	7	92844715	Splice_Site	SNP	A	TCGA-23-1123-01A-01W-0488-09	26434529	92844715	66293948	40	10893											
IFNA5	3442	genome.wustl.edu	37	9	21304927	21304927	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr9:21304927G>C	ENST00000259555.4	-	1	385	c.329C>G	c.(328-330)aCt>aGt	p.T110S		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	110					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.T110S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTAAAGTTCAGTGTAGAATTT	0.468																																																1	Substitution - Missense(1)	ovary(1)	9											120	116	117					9																	21304927		2203	4300	6503	21294927	SO:0001583	missense	3442				CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"Interferons"	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.329C>G	9.37:g.21304927G>C	ENSP00000259555:p.Thr110Ser		21294927	Q52LX3	Missense_Mutation	SNP	ENST00000259555.4	37	CCDS6502.1	.	.	.	.	.	.	.	.	.	.	G	5.422	0.263030	0.10294	.	.	ENSG00000147873	ENST00000259555	T	0.03496	3.91	4.16	-4.13	0.03904	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.767710	0.02814	N	0.124715	T	0.03959	0.0111	L	0.45228	1.405	0.09310	N	1	B	0.09022	0.002	B	0.23419	0.046	T	0.45160	-0.9280	10	0.32370	T	0.25	.	3.3838	0.07264	0.0877:0.3601:0.2956:0.2566	.	110	P01569	IFNA5_HUMAN	S	110	ENSP00000259555:T110S	ENSP00000259555:T110S	T	-	2	0	IFNA5	21294927	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.439000	0.06897	-0.339000	0.08401	0.537000	0.68136	ACT		0.468	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169		C	21304927	G	C	21304927	3	2	190	1	0	0	0	0	1	0	0	0	7540	1029	36	3	244	3	IFNA5	9	21304927	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09		21304927	119908504	41	10894											
C9orf79	286234	genome.wustl.edu	37	9	90503023	90503023	+	Silent	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr9:90503023C>T	ENST00000325643.5	+	4	3687	c.3621C>T	c.(3619-3621)caC>caT	p.H1207H		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1207					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.H1207H(1)									GCGAGGCCCACAGGAGGCCCA	0.647																																																1	Substitution - coding silent(1)	ovary(1)	9											12	11	12					9																	90503023		2191	4276	6467	89692843	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3621C>T	9.37:g.90503023C>T			89692843	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																				0.647	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		T	90503023	C	T	90503023	2	4	190	1	0	0	0	0	0	0	0	1	2497	477	17	2		2	C9orf79	9	90503023	Silent	SNP	C	TCGA-23-1123-01A-01W-0488-09	69198096	90503023	50710408	42	10895											
ANKS6	203286	genome.wustl.edu	37	9	101552872	101552872	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr9:101552872C>G	ENST00000353234.4	-	2	423	c.376G>C	c.(376-378)Gtg>Ctg	p.V126L	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Missense_Mutation_p.V126L			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	126						cilium (GO:0005929)|cytoplasm (GO:0005737)		p.V126L(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGTGTGCCACACTCACATGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	9											31	34	33					9																	101552872		2102	4217	6319	100592693	SO:0001583	missense	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.376G>C	9.37:g.101552872C>G	ENSP00000297837:p.Val126Leu		100592693	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.349980	0.41599	.	.	ENSG00000165138	ENST00000375018;ENST00000353234	T;T	0.63580	-0.05;-0.05	5.67	5.67	0.87782	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	L	0.37850	1.14	0.80722	D	1	P	0.38110	0.618	B	0.33750	0.169	T	0.58261	-0.7667	10	0.56958	D	0.05	-28.2508	17.2762	0.87116	0.0:1.0:0.0:0.0	.	126	Q68DC2	ANKS6_HUMAN	L	126	ENSP00000364158:V126L;ENSP00000297837:V126L	ENSP00000297837:V126L	V	-	1	0	ANKS6	100592693	1.000000	0.71417	0.960000	0.40013	0.013000	0.08279	5.546000	0.67243	2.677000	0.91161	0.561000	0.74099	GTG		0.557	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		G	101552872	C	G	101552872	3	3	190	1	0	0	0	0	1	0	0	0	692	478	17	3	2295	3	ANKS6	9	101552872	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	11049849	101552872	39660559	43	10896											
COL27A1	85301	genome.wustl.edu	37	9	117070033	117070033	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr9:117070033G>T	ENST00000356083.3	+	59	5583	c.5192G>T	c.(5191-5193)tGt>tTt	p.C1731F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1731	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.C1731F(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGACAGACGTGTCTCAAGCCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	9											210	155	174					9																	117070033		2203	4300	6503	116109854	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5192G>T	9.37:g.117070033G>T	ENSP00000348385:p.Cys1731Phe		116109854	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.809832	0.70797	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.88046	-2.33	5.6	5.6	0.85130	Fibrillar collagen, C-terminal (3);	.	.	.	.	D	0.95443	0.8520	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.947	D	0.96223	0.9162	9	0.66056	D	0.02	.	17.1167	0.86690	0.0:0.0:1.0:0.0	.	46;1731	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	F	1731;1738	ENSP00000348385:C1731F	ENSP00000348385:C1731F	C	+	2	0	COL27A1	116109854	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	9.869000	0.99810	2.648000	0.89879	0.561000	0.74099	TGT		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117070033	G	T	117070033	3	4	190	1	0	0	0	0	1	0	0	0	3685	1377	48	3	5426	3	COL27A1	9	117070033	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	15517161	117070033	24143398	44	10897											
AKNA	80709	genome.wustl.edu	37	9	117139410	117139410	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr9:117139410G>C	ENST00000307564.4	-	3	838	c.677C>G	c.(676-678)cCc>cGc	p.P226R	AKNA_ENST00000374075.5_Missense_Mutation_p.P145R|AKNA_ENST00000312033.3_Missense_Mutation_p.P226R|AKNA_ENST00000374088.3_Missense_Mutation_p.P226R|AKNA_ENST00000223791.3_5'Flank	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	226					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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 positive regulation of transcription (GO:0001077)	p.P226R(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGTGGGCTGGGGGCCATCGGT	0.632																																																1	Substitution - Missense(1)	ovary(1)	9											58	52	54					9																	117139410		2203	4300	6503	116179231	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.677C>G	9.37:g.117139410G>C	ENSP00000303769:p.Pro226Arg		116179231	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289887	0.10567	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.57273	1.69;1.69;1.7;0.41	4.49	2.25	0.28309	.	0.000000	0.39834	N	0.001243	T	0.43211	0.1237	L	0.29908	0.895	0.09310	N	0.999995	P;P;P	0.41131	0.739;0.622;0.739	P;B;B	0.47705	0.555;0.18;0.334	T	0.25467	-1.0131	10	0.62326	D	0.03	-15.6933	4.4732	0.11722	0.1171:0.0:0.6074:0.2755	.	226;226;145	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	R	226;226;145;226;226	ENSP00000303769:P226R;ENSP00000363201:P226R;ENSP00000363188:P145R;ENSP00000309222:P226R	ENSP00000303769:P226R	P	-	2	0	AKNA	116179231	0.943000	0.32029	0.021000	0.16686	0.074000	0.17049	1.170000	0.31883	0.990000	0.38787	0.462000	0.41574	CCC		0.632	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		C	117139410	G	C	117139410	3	2	190	1	0	0	0	0	1	0	0	0	463	1232	43	3	3722	3	AKNA	9	117139410	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	69377	117139410	24074021	45	10898											
KIAA1462	57608	genome.wustl.edu	37	10	30315774	30315774	+	Silent	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr10:30315774C>T	ENST00000375377.1	-	3	3404	c.3303G>A	c.(3301-3303)ccG>ccA	p.P1101P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1101					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.P1101P(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCGGATGCCCGGCAGGAGGG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	10											62	64	63					10																	30315774		1950	4163	6113	30355780	SO:0001819	synonymous_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3303G>A	10.37:g.30315774C>T			30355780	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																				0.632	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		T	30315774	C	T	30315774	2	4	190	1	0	0	0	0	0	0	0	1	8234	639	23	1		1	KIAA1462	10	30315774	Silent	SNP	C	TCGA-23-1123-01A-01W-0488-09		30315774	105218973	46	10899											
P4HA1	5033	genome.wustl.edu	37	10	74810982	74810982	+	Silent	SNP	A	A	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr10:74810982A>T	ENST00000307116.2	-	7	845	c.729T>A	c.(727-729)ggT>ggA	p.G243G	P4HA1_ENST00000412021.2_Silent_p.G243G|P4HA1_ENST00000263556.3_Silent_p.G243G|P4HA1_ENST00000394890.2_Silent_p.G243G|P4HA1_ENST00000440381.1_Silent_p.G243G|P4HA1_ENST00000373008.2_Silent_p.G243G			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	243					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.G243G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATTTTAAGTTACCATTAGCTC	0.318																																					Colon(147;367 2405 2662 52127)											1	Substitution - coding silent(1)	ovary(1)	10											69	71	70					10																	74810982		2203	4300	6503	74480988	SO:0001819	synonymous_variant	5033				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.729T>A	10.37:g.74810982A>T			74480988	C9JL12|Q15082|Q15083|Q5VSQ5	Silent	SNP	ENST00000307116.2	37																																																																																					0.318	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		T	74810982	A	T	74810982	2	4	190	1	0	0	0	0	0	0	0	1	11356	378	14	5		5	P4HA1	10	74810982	Silent	SNP	A	TCGA-23-1123-01A-01W-0488-09	44495208	74810982	60723765	47	10900											
VAX1	11023	genome.wustl.edu	37	10	118891748	118891748	+	IGR	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr10:118891748G>T	ENST00000369206.5	-	0	1723				VAX1_ENST00000277905.2_Missense_Mutation_p.S178Y	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1						axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S178Y(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCTGCCCCCGGAGTCCCCACG	0.522																																																1	Substitution - Missense(1)	ovary(1)	10											50	62	58					10																	118891748		2203	4300	6503	118881738	SO:0001628	intergenic_variant	11023			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117		10.37:g.118891748G>T			118881738	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587894	0.28268	.	.	ENSG00000148704	ENST00000277905	D	0.86769	-2.17	4.69	-2.03	0.07365	.	.	.	.	.	T	0.74935	0.3782	.	.	.	0.09310	N	1	B	0.27068	0.167	B	0.25987	0.065	T	0.61187	-0.7113	8	0.45353	T	0.12	.	1.0468	0.01571	0.2607:0.2847:0.3088:0.1459	.	178	Q5SQQ9-2	.	Y	178	ENSP00000277905:S178Y	ENSP00000277905:S178Y	S	-	2	0	VAX1	118881738	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.510000	0.22723	-0.491000	0.06697	-0.175000	0.13238	TCC		0.522	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		T	118891748	G	T	118891748	1	4	190	0	1	0	0	0	0	0	0	0	17134	1174	41	3		3	VAX1	10	118891748	IGR	SNP	G	TCGA-23-1123-01A-01W-0488-09	44080766	118891748	16642999	48	10901											
PPFIBP2	8495	genome.wustl.edu	37	11	7661073	7661073	+	Silent	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr11:7661073C>T	ENST00000299492.4	+	15	1735	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	PPFIBP2_ENST00000528883.1_Silent_p.D337D|PPFIBP2_ENST00000530181.1_Silent_p.D306D|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Silent_p.D291D	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	449					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.D449D(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCCAGCCTGACGCCACGGGGA	0.572																																																1	Substitution - coding silent(1)	ovary(1)	11											77	78	78					11																	7661073		2201	4296	6497	7617649	SO:0001819	synonymous_variant	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1347C>T	11.37:g.7661073C>T			7617649	B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.276828	0.01410	.	.	ENSG00000166387	ENST00000534409	.	.	.	5.37	-4.73	0.03259	.	.	.	.	.	T	0.16385	0.0394	.	.	.	0.20975	N	0.999815	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	-12.5771	1.0042	0.01483	0.2446:0.2108:0.1204:0.4242	.	.	.	.	C	129	.	.	R	+	1	0	PPFIBP2	7617649	0.007000	0.16637	0.009000	0.14445	0.052000	0.14988	-0.157000	0.10085	-0.461000	0.06993	-0.979000	0.02580	CGC		0.572	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		T	7661073	C	T	7661073	2	4	190	1	0	0	0	0	0	0	0	1	12314	535	19	1		1	PPFIBP2	11	7661073	Silent	SNP	C	TCGA-23-1123-01A-01W-0488-09		7661073	127345443	49	10902											
SOX6	55553	genome.wustl.edu	37	11	16010675	16010675	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr11:16010675G>A	ENST00000352083.6	-	14	1911	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	SOX6_ENST00000528429.1_Missense_Mutation_p.R612C|SOX6_ENST00000316399.6_Missense_Mutation_p.R592C|SOX6_ENST00000396356.3_Missense_Mutation_p.R592C|SOX6_ENST00000528252.1_Missense_Mutation_p.R585C|SOX6_ENST00000527619.1_Missense_Mutation_p.R588C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	612					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R592C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCACGGCCGCGGGCGTCCCTG	0.522											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											141	136	138					11																	16010675		2200	4294	6494	15967251	SO:0001583	missense	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1834C>T	11.37:g.16010675G>A	ENSP00000339876:p.Arg612Cys	707	15967251	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.034538	0.75617	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98264	-4.82;-4.8;-4.82;-4.83;-4.83;-4.8	5.72	5.72	0.89469	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	L	0.43923	1.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.995	D	0.99904	1.1171	10	0.87932	D	0	.	19.879	0.96888	0.0:0.0:1.0:0.0	.	592;612;588	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	C	592;612;592;585;588;612	ENSP00000324948:R592C;ENSP00000339876:R612C;ENSP00000379644:R592C;ENSP00000432134:R585C;ENSP00000434455:R588C;ENSP00000433233:R612C	ENSP00000324948:R592C	R	-	1	0	SOX6	15967251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.531000	0.60602	2.695000	0.91970	0.655000	0.94253	CGC		0.522	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		A	16010675	G	A	16010675	3	1	190	1	0	0	0	0	1	0	0	0	14958	1116	39	1	664	1	SOX6	11	16010675	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	8349602	16010675	118995841	50	10903											
NUP160	23279	genome.wustl.edu	37	11	47869846	47869846	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr11:47869846G>A	ENST00000378460.2	-	1	173	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	NUP160_ENST00000526870.1_Missense_Mutation_p.R43W|NUP160_ENST00000532747.1_Missense_Mutation_p.R9W|NUP160_ENST00000530326.1_De_novo_Start_OutOfFrame	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	43					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.R43W(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACGAAGCTCCGTTCCAGGGCT	0.682																																																1	Substitution - Missense(1)	ovary(1)	11											39	44	42					11																	47869846		2201	4298	6499	47826422	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.127C>T	11.37:g.47869846G>A	ENSP00000367721:p.Arg43Trp		47826422	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075970	0.55646	.	.	ENSG00000030066	ENST00000378460;ENST00000532747;ENST00000526870	T;T;T	0.59083	1.1;0.29;0.29	4.85	3.87	0.44632	.	0.083760	0.45606	D	0.000349	T	0.60104	0.2243	N	0.19112	0.55	0.32620	N	0.52341	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.914	T	0.66952	-0.5793	10	0.49607	T	0.09	.	12.201	0.54326	0.0:0.0:0.7254:0.2746	.	43;43	Q12769-2;Q12769	.;NU160_HUMAN	W	43;9;43	ENSP00000367721:R43W;ENSP00000432437:R9W;ENSP00000431495:R43W	ENSP00000367721:R43W	R	-	1	2	NUP160	47826422	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	3.257000	0.51500	2.404000	0.81709	0.491000	0.48974	CGG		0.682	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		A	47869846	G	A	47869846	3	1	190	1	0	0	0	0	1	0	0	0	10757	1144	40	1	4327	1	NUP160	11	47869846	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	31859171	47869846	87136670	51	10904											
OR5AK2	390181	genome.wustl.edu	37	11	56756974	56756974	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr11:56756974A>G	ENST00000326855.2	+	1	628	c.586A>G	c.(586-588)Atc>Gtc	p.I196V		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I196V(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGACATCAACATCATGCTACT	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											322	285	298					11																	56756974		2201	4296	6497	56513550	SO:0001583	missense	390181			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.586A>G	11.37:g.56756974A>G	ENSP00000322784:p.Ile196Val		56513550	B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	A	2.243	-0.373308	0.05034	.	.	ENSG00000181273	ENST00000326855	T	0.00058	8.79	3.85	-7.01	0.01594	GPCR, rhodopsin-like superfamily (1);	0.581630	0.14288	N	0.329118	T	0.00039	0.0001	N	0.04090	-0.28	0.09310	N	1	B	0.06786	0.001	B	0.17722	0.019	T	0.40757	-0.9546	10	0.66056	D	0.02	-18.6514	2.4558	0.04529	0.1774:0.1289:0.4246:0.2691	.	196	Q8NH90	O5AK2_HUMAN	V	196	ENSP00000322784:I196V	ENSP00000322784:I196V	I	+	1	0	OR5AK2	56513550	0.000000	0.05858	0.028000	0.17463	0.012000	0.07955	-1.024000	0.03603	-1.481000	0.01863	-1.341000	0.01249	ATC		0.413	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		G	56756974	A	G	56756974	3	3	190	1	0	0	0	0	1	0	0	0	11142	217	8	4	588	4	OR5AK2	11	56756974	Missense_Mutation	SNP	A	TCGA-23-1123-01A-01W-0488-09	8887128	56756974	78249542	52	10905											
MMP13	4322	genome.wustl.edu	37	11	102815027	102815027	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr11:102815027C>T	ENST00000260302.3	-	10	1412	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I		NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	462	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V462I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GCTGGCATGACGCGAACAATA	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											138	150	146					11																	102815027		2202	4299	6501	102320237	SO:0001583	missense	4322			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1384G>A	11.37:g.102815027C>T	ENSP00000260302:p.Val462Ile		102320237	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	3.486	-0.104955	0.06967	.	.	ENSG00000137745	ENST00000260302	T	0.02446	4.29	5.99	5.09	0.68999	Hemopexin/matrixin (2);	.	.	.	.	T	0.02267	0.0070	N	0.17379	0.485	0.80722	D	1	B	0.24426	0.103	B	0.25614	0.062	T	0.57136	-0.7863	9	0.18710	T	0.47	.	10.1943	0.43045	0.0:0.7944:0.0:0.2056	.	462	P45452	MMP13_HUMAN	I	462	ENSP00000260302:V462I	ENSP00000260302:V462I	V	-	1	0	MMP13	102320237	0.611000	0.26992	0.875000	0.34327	0.345000	0.29048	1.086000	0.30853	1.549000	0.49425	0.655000	0.94253	GTC		0.363	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		T	102815027	C	T	102815027	3	4	190	1	0	0	0	0	1	0	0	0	9652	536	19	1	35	1	MMP13	11	102815027	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	46058053	102815027	32191489	53	10906											
FAM55B	120406	genome.wustl.edu	37	11	114569224	114569224	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr11:114569224G>A	ENST00000389586.4	+	3	780	c.590G>A	c.(589-591)aGt>aAt	p.S197N	NXPE2_ENST00000375475.5_Missense_Mutation_p.S197N	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	197						integral component of membrane (GO:0016021)		p.S197N(1)									ATCCACCCCAGTGAAGGGGTA	0.527																																																1	Substitution - Missense(1)	ovary(1)	11											83	91	89					11																	114569224		692	1591	2283	114074434	SO:0001583	missense	120406			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.590G>A	11.37:g.114569224G>A	ENSP00000374237:p.Ser197Asn		114074434	Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004220	0.74932	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.29397	2.22;1.57	4.66	3.73	0.42828	.	0.000000	0.64402	D	0.000001	T	0.65417	0.2689	H	0.95437	3.67	0.39962	D	0.974676	D	0.89917	1.0	D	0.87578	0.998	T	0.75795	-0.3192	10	0.62326	D	0.03	.	12.4603	0.55729	0.0:0.1704:0.8296:0.0	.	197	Q96DL1	FA55B_HUMAN	N	197	ENSP00000374237:S197N;ENSP00000364624:S197N	ENSP00000364624:S197N	S	+	2	0	FAM55B	114074434	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.143000	0.71756	0.928000	0.37168	0.591000	0.81541	AGT		0.527	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		A	114569224	G	A	114569224	3	1	190	1	0	0	0	0	1	0	0	0	5585	1029	36	2	600	2	FAM55B	11	114569224	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	11754197	114569224	20437292	54	10907											
EFCAB4B	84766	genome.wustl.edu	37	12	3768784	3768784	+	Silent	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr12:3768784G>T	ENST00000252322.1	-	8	1176	c.708C>A	c.(706-708)ctC>ctA	p.L236L	EFCAB4B_ENST00000444507.1_Silent_p.L236L|EFCAB4B_ENST00000440314.2_Silent_p.L236L	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		236					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L236L(1)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTCCTCATAGAGATGCTGGA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	12											183	155	164					12																	3768784		2203	4300	6503	3639045	SO:0001819	synonymous_variant	84766																														ENST00000252322.1:c.708C>A	12.37:g.3768784G>T			3639045	B4E1X0|B9EK63	Silent	SNP	ENST00000252322.1	37	CCDS8522.1																																																																																				0.483	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			T	3768784	G	T	3768784	2	4	190	1	0	0	0	0	0	0	0	1	4937	929	33	3		3	EFCAB4B	12	3768784	Silent	SNP	G	TCGA-23-1123-01A-01W-0488-09		3768784	130083111	55	10908											
REP15	387849	genome.wustl.edu	37	12	27849550	27849550	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr12:27849550G>A	ENST00000310791.2	+	1	123	c.55G>A	c.(55-57)Gtc>Atc	p.V19I	RP11-1060J15.4_ENST00000536317.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000542660.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	19					receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	endosome membrane (GO:0010008)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)		p.V19I(1)		breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					AGAGGTGCCCGTCGTCTGTGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											85	72	76					12																	27849550		2203	4300	6503	27740817	SO:0001583	missense	387849			BC140921	CCDS31762.1	12p11.22	2010-09-02			ENSG00000174236	ENSG00000174236			33748	protein-coding gene	gene with protein product		610848				16195351	Standard	NM_001029874		Approved	RAB15EP	uc001rig.1	Q6BDI9		ENST00000310791.2:c.55G>A	12.37:g.27849550G>A	ENSP00000310335:p.Val19Ile		27740817	B2RU16	Missense_Mutation	SNP	ENST00000310791.2	37	CCDS31762.1	.	.	.	.	.	.	.	.	.	.	G	6.760	0.509149	0.12883	.	.	ENSG00000174236	ENST00000310791	T	0.29655	1.56	4.99	-9.98	0.00438	.	1.784800	0.03098	N	0.160664	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10776	-1.0615	10	0.20046	T	0.44	-6.0538	6.0293	0.19671	0.2411:0.2396:0.4401:0.0793	.	19	Q6BDI9	REP15_HUMAN	I	19	ENSP00000310335:V19I	ENSP00000310335:V19I	V	+	1	0	REP15	27740817	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.449000	0.06812	-2.469000	0.00531	-1.193000	0.01689	GTC		0.478	REP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402894.1	NM_001029874		A	27849550	G	A	27849550	3	1	190	1	0	0	0	0	1	0	0	0	13229	1145	40	1	57	1	REP15	12	27849550	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	24080766	27849550	106002345	56	10909											
FGD4	121512	genome.wustl.edu	37	12	32735390	32735390	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr12:32735390C>T	ENST00000427716.2	+	4	1013	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	FGD4_ENST00000472289.1_Missense_Mutation_p.H197Y|FGD4_ENST00000534526.2_Missense_Mutation_p.H334Y|FGD4_ENST00000531134.1_Missense_Mutation_p.H282Y|FGD4_ENST00000546442.1_Missense_Mutation_p.H104Y|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Missense_Mutation_p.H309Y	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	197					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.H197Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GGACCAGCACCATGAGATGAA	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											42	43	43					12																	32735390		2203	4300	6503	32626657	SO:0001583	missense	121512			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.589C>T	12.37:g.32735390C>T	ENSP00000394487:p.His197Tyr		32626657	Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	9.131	1.011442	0.19277	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.70282	-0.47;-0.46;-0.46;1.61;-0.46	5.04	1.91	0.25777	Dbl homology (DH) domain (1);	2.378200	0.01570	N	0.020534	T	0.60431	0.2268	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.32620	0.106;0.106;0.105;0.378	B;B;B;B	0.33339	0.162;0.105;0.026;0.128	T	0.55673	-0.8104	10	0.56958	D	0.05	3.205	8.0618	0.30638	0.1609:0.411:0.4281:0.0	.	309;282;197;197	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	Y	334;282;197;197;104;309;178	ENSP00000449273:H334Y;ENSP00000431323:H282Y;ENSP00000394487:H197Y;ENSP00000446695:H104Y;ENSP00000433666:H309Y	ENSP00000379089:H197Y	H	+	1	0	FGD4	32626657	0.005000	0.15991	0.311000	0.25182	0.771000	0.43674	1.245000	0.32790	1.088000	0.41272	0.563000	0.77884	CAT		0.478	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		T	32735390	C	T	32735390	3	4	190	1	0	0	0	0	1	0	0	0	5835	594	21	2	595	2	FGD4	12	32735390	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	4885840	32735390	101116505	57	10910											
TROAP	10024	genome.wustl.edu	37	12	49724346	49724346	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr12:49724346A>G	ENST00000257909.3	+	13	1794	c.1718A>G	c.(1717-1719)gAa>gGa	p.E573G	TROAP_ENST00000551245.1_Missense_Mutation_p.E573G|TROAP_ENST00000547923.1_Missense_Mutation_p.E281G	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	573	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.E573G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCTCGCCAGGAACAGCTTGAG	0.592																																																1	Substitution - Missense(1)	ovary(1)	12											72	69	70					12																	49724346		2203	4300	6503	48010613	SO:0001583	missense	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1718A>G	12.37:g.49724346A>G	ENSP00000257909:p.Glu573Gly		48010613	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	A	9.293	1.051081	0.19827	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	2.69	-3.03	0.05429	.	.	.	.	.	T	0.16514	0.0397	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.08055	0.003;0.002;0.003	T	0.24512	-1.0158	8	0.23891	T	0.37	.	0.3863	0.00403	0.2916:0.2082:0.2953:0.2049	.	573;281;573	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	G	573;573;281	.	ENSP00000257909:E573G	E	+	2	0	TROAP	48010613	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-2.066000	0.01385	-0.520000	0.06435	0.402000	0.26972	GAA		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		G	49724346	A	G	49724346	3	3	190	1	0	0	0	0	1	0	0	0	16575	246	9	4	1866	4	TROAP	12	49724346	Missense_Mutation	SNP	A	TCGA-23-1123-01A-01W-0488-09	16988956	49724346	84127549	58	10911											
CUX2	23316	genome.wustl.edu	37	12	111785395	111785395	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr12:111785395G>C	ENST00000261726.6	+	22	3881	c.3727G>C	c.(3727-3729)Ggt>Cgt	p.G1243R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1243					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.G1243R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAAGCGGGGGTCCTGGAAT	0.662																																																1	Substitution - Missense(1)	ovary(1)	12											58	67	64					12																	111785395		1902	4111	6013	110269778	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3727G>C	12.37:g.111785395G>C	ENSP00000261726:p.Gly1243Arg		110269778	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236864	0.39498	.	.	ENSG00000111249	ENST00000261726	T	0.44881	0.91	5.78	4.81	0.61882	.	0.173828	0.39544	N	0.001340	T	0.42291	0.1196	L	0.29908	0.895	0.33612	D	0.603661	D	0.60575	0.988	P	0.55222	0.771	T	0.44636	-0.9315	10	0.23891	T	0.37	-6.8542	12.8375	0.57782	0.0:0.0:0.767:0.233	.	1243	O14529	CUX2_HUMAN	R	1243	ENSP00000261726:G1243R	ENSP00000261726:G1243R	G	+	1	0	CUX2	110269778	0.604000	0.26932	0.990000	0.47175	0.924000	0.55760	2.050000	0.41297	2.729000	0.93468	0.650000	0.86243	GGT		0.662	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		C	111785395	G	C	111785395	3	2	190	1	0	0	0	0	1	0	0	0	4065	1232	43	3	3813	3	CUX2	12	111785395	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	62061049	111785395	22066500	59	10912											
OR11H12	440153	genome.wustl.edu	37	14	19377878	19377878	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr14:19377878G>T	ENST00000550708.1	+	1	357	c.285G>T	c.(283-285)aaG>aaT	p.K95N		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K95N(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGTTCCCAAGATGTTGGTCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	14											5	5	5					14																	19377878		1166	2726	3892	18447878	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.285G>T	14.37:g.19377878G>T	ENSP00000449002:p.Lys95Asn		18447878		Missense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.632051	0.00115	.	.	ENSG00000257115	ENST00000550708	T	0.03330	3.97	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.767664	0.10851	N	0.627168	T	0.02649	0.0080	L	0.37850	1.14	0.24192	N	0.99555	B	0.12630	0.006	B	0.10450	0.005	T	0.44832	-0.9302	9	0.09084	T	0.74	.	3.7193	0.08450	0.0:1.0E-4:0.5702:0.4297	.	95	B2RN74	O11HC_HUMAN	N	95	ENSP00000449002:K95N	ENSP00000449002:K95N	K	+	3	2	CR383656.1	18447878	0.000000	0.05858	0.990000	0.47175	0.276000	0.26787	-2.263000	0.01174	0.619000	0.30197	0.064000	0.15345	AAG		0.408	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		T	19377878	G	T	19377878	3	4	190	1	0	0	0	0	1	0	0	0	10927	933	33	3	287	3	OR11H12	14	19377878	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09		19377878	87971662	60	10913											
PNP	4860	genome.wustl.edu	37	14	20943361	20943361	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr14:20943361A>T	ENST00000361505.5	+	5	748	c.602A>T	c.(601-603)gAg>gTg	p.E201V	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.E201V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CCCAGCTTTGAGACTGTGGCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	14											89	84	86					14																	20943361		2203	4300	6503	20013201	SO:0001583	missense	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.602A>T	14.37:g.20943361A>T	ENSP00000354532:p.Glu201Val		20013201		Missense_Mutation	SNP	ENST00000361505.5	37	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967990	0.74131	.	.	ENSG00000198805	ENST00000361505;ENST00000554469	D	0.89485	-2.52	5.91	5.91	0.95273	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.96297	0.8792	H	0.96430	3.82	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97483	1.0048	10	0.87932	D	0	-15.0541	15.3309	0.74208	1.0:0.0:0.0:0.0	.	201	P00491	PNPH_HUMAN	V	201;133	ENSP00000354532:E201V	ENSP00000354532:E201V	E	+	2	0	PNP	20013201	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.690000	0.91272	2.254000	0.74563	0.533000	0.62120	GAG		0.552	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		T	20943361	A	T	20943361	3	4	190	1	0	0	0	0	1	0	0	0	12163	304	11	5	620	5	PNP	14	20943361	Missense_Mutation	SNP	A	TCGA-23-1123-01A-01W-0488-09	1565483	20943361	86406179	61	10914											
SLC8A3	6547	genome.wustl.edu	37	14	70518707	70518707	+	Splice_Site	SNP	C	C	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr14:70518707C>A	ENST00000381269.2	-	5	2784	c.2031G>T	c.(2029-2031)aaG>aaT	p.K677N	SLC8A3_ENST00000528359.1_Splice_Site_p.K675N|SLC8A3_ENST00000394330.2_Splice_Site_p.K34N|SLC8A3_ENST00000533541.1_Splice_Site_p.K34N|SLC8A3_ENST00000216568.7_Splice_Site_p.K48N|SLC8A3_ENST00000357887.3_Splice_Site_p.K675N|SLC8A3_ENST00000534137.1_Splice_Site_p.K674N|SLC8A3_ENST00000356921.2_Splice_Site_p.K671N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	677					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.K677N(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTTGCCTGACCTTGAACTCAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	14											129	112	118					14																	70518707		2203	4300	6503	69588460	SO:0001630	splice_region_variant	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2031+1G>T	14.37:g.70518707C>A			69588460	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453618	0.84209	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	T;T;T;T;T;T;T;T	0.72051	1.62;1.62;1.62;-0.62;-0.61;1.62;1.62;0.74	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84840	0.5561	M	0.79343	2.45	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.993;0.997;0.997	D;D;D;D;D;D	0.80764	0.979;0.994;0.991;0.971;0.98;0.951	D	0.84549	0.0643	9	.	.	.	.	19.5956	0.95536	0.0:1.0:0.0:0.0	.	34;671;677;675;674;48	F2Z391;P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;.;NAC3_HUMAN;.;.;.	N	671;677;675;48;34;674;675;34	ENSP00000349392:K671N;ENSP00000370669:K677N;ENSP00000350560:K675N;ENSP00000216568:K48N;ENSP00000377863:K34N;ENSP00000436688:K674N;ENSP00000433531:K675N;ENSP00000437103:K34N	.	K	-	3	2	SLC8A3	69588460	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.773000	0.85462	2.715000	0.92844	0.650000	0.86243	AAG		0.418	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		Missense_Mutation	A	70518707	C	A	70518707	5	1	190	1	0	0	0	0	0	0	1	0	14711	695	24	3	768	3	SLC8A3	14	70518707	Splice_Site	SNP	C	TCGA-23-1123-01A-01W-0488-09	49575346	70518707	36830833	62	10915											
STARD5	80765	genome.wustl.edu	37	15	81605705	81605705	+	Silent	SNP	G	G	T	rs200366069		TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr15:81605705G>T	ENST00000302824.6	-	6	559	c.534C>A	c.(532-534)acC>acA	p.T178T		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	178	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)	p.T178T(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CGCTGAGGTCGGTATGGAAGA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	15											196	167	177					15																	81605705		2203	4300	6503	79392760	SO:0001819	synonymous_variant	80765			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"StAR-related lipid transfer (START) domain containing"	18065	protein-coding gene	gene with protein product		607050	"START domain containing 5"			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.534C>A	15.37:g.81605705G>T			79392760	P59094	Silent	SNP	ENST00000302824.6	37	CCDS10318.1																																																																																				0.557	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2			T	81605705	G	T	81605705	2	4	190	1	0	0	0	0	0	0	0	1	15262	1103	39	3		3	STARD5	15	81605705	Silent	SNP	G	TCGA-23-1123-01A-01W-0488-09		81605705	20925687	63	10916											
CPEB1	64506	genome.wustl.edu	37	15	83240144	83240144	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr15:83240144G>T	ENST00000562019.1	-	3	645	c.329C>A	c.(328-330)cCc>cAc	p.P110H	CPEB1_ENST00000568128.1_Missense_Mutation_p.P110H|CPEB1_ENST00000563800.1_Missense_Mutation_p.P137H|CPEB1_ENST00000398592.2_5'UTR|CPEB1_ENST00000568757.1_Missense_Mutation_p.P35H|CPEB1_ENST00000423133.2_Missense_Mutation_p.P35H|CPEB1_ENST00000261723.6_Missense_Mutation_p.P113H|CPEB1_ENST00000564522.1_Missense_Mutation_p.P35H|CPEB1_ENST00000398591.2_Missense_Mutation_p.P35H|CPEB1_ENST00000450751.2_Missense_Mutation_p.P35H			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	110					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.P35H(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGTGCTCCAGGGTCGGTCCCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	15											94	98	97					15																	83240144		1992	4172	6164	81037199	SO:0001583	missense	64506			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.329C>A	15.37:g.83240144G>T	ENSP00000457836:p.Pro110His		81037199	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	G	24.6	4.552289	0.86127	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	U	0.000000	T	0.67887	0.2941	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.70970	-0.4727	9	0.87932	D	0	-9.6672	19.8535	0.96748	0.0:0.0:1.0:0.0	.	113;110;110;110	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	H	110;110;35;35;113	.	ENSP00000261723:P113H	P	-	2	0	CPEB1	81037199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.479000	0.81095	2.694000	0.91930	0.557000	0.71058	CCC		0.597	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		T	83240144	G	T	83240144	3	4	190	1	0	0	0	0	1	0	0	0	3800	1232	43	3	1411	3	CPEB1	15	83240144	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	1634439	83240144	19291248	64	10917											
AP3B2	8120	genome.wustl.edu	37	15	83331513	83331513	+	Silent	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr15:83331513G>T	ENST00000261722.3	-	22	2916	c.2709C>A	c.(2707-2709)atC>atA	p.I903I	AP3B2_ENST00000535348.1_Silent_p.I871I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.I922I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	903					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.I902I(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCAGGCCCTTGATGGGGGTAT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	15											38	42	41					15																	83331513		1990	4155	6145	81128568	SO:0001819	synonymous_variant	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2709C>A	15.37:g.83331513G>T			81128568	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Nonsense_Mutation	SNP	ENST00000261722.3	37	CCDS45331.1																																																																																				0.582	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			T	83331513	G	T	83331513	2	4	190	1	0	0	0	0	0	0	0	1	745	1280	45	3		3	AP3B2	15	83331513	Silent	SNP	G	TCGA-23-1123-01A-01W-0488-09	91369	83331513	19199879	65	10918											
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578403	C	T	7578403	3	4	190	1	0	0	0	0	1	0	0	0	16381	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09		7578403	73616807	66	10919											
AOC2	314	genome.wustl.edu	37	17	40997575	40997575	+	Missense_Mutation	SNP	C	C	T	rs142697203		TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr17:40997575C>T	ENST00000253799.3	+	1	959	c.932C>T	c.(931-933)tCg>tTg	p.S311L	AOC2_ENST00000452774.2_Missense_Mutation_p.S311L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	311					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.S311L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTCAGTTCTCGCCCCAGGGT	0.557													C|||	1	0.000199681	0	0	5008	,	,		19702	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	17						C	LEU/SER,LEU/SER	0,4406		0,0,2203	90	92	91		932,932	1.4	0	17	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AOC2	NM_001158.3,NM_009590.2	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	311/730,311/757	40997575	1,13005	2203	4300	6503	38251101	SO:0001583	missense	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.932C>T	17.37:g.40997575C>T	ENSP00000253799:p.Ser311Leu		38251101	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597324	0.28445	0.0	1.16E-4	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03951	3.75;3.75	5.69	1.36	0.22044	Copper amine oxidase, C-terminal (3);	0.790355	0.11554	N	0.552456	T	0.05090	0.0136	L	0.50333	1.59	0.23765	N	0.996907	B;B	0.16166	0.016;0.012	B;B	0.15484	0.013;0.008	T	0.41360	-0.9513	10	0.72032	D	0.01	-16.3637	2.5934	0.04848	0.3835:0.3737:0.1047:0.138	.	311;311	O75106;O75106-2	AOC2_HUMAN;.	L	311	ENSP00000253799:S311L;ENSP00000406134:S311L	ENSP00000253799:S311L	S	+	2	0	AOC2	38251101	0.582000	0.26749	0.003000	0.11579	0.841000	0.47740	4.520000	0.60524	0.049000	0.15920	0.511000	0.50034	TCG		0.557	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		T	40997575	C	T	40997575	3	4	190	1	0	0	0	0	1	0	0	0	727	893	31	1	934	1	AOC2	17	40997575	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	33419172	40997575	40197635	67	10920											
DSG4	147409	genome.wustl.edu	37	18	28993336	28993336	+	Missense_Mutation	SNP	A	A	T	rs151254406	byFrequency	TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr18:28993336A>T	ENST00000308128.4	+	16	3036	c.2901A>T	c.(2899-2901)agA>agT	p.R967S	DSG4_ENST00000359747.4_Missense_Mutation_p.R986S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	967					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R967S(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGCTGAGAGAGTACTGGCTA	0.443																																																1	Substitution - Missense(1)	ovary(1)	18											179	164	169					18																	28993336		2203	4300	6503	27247334	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2901A>T	18.37:g.28993336A>T	ENSP00000311859:p.Arg967Ser		27247334	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555427	0.65425	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	D;D	0.82619	-1.63;-1.63	5.24	-0.997	0.10215	.	0.000000	0.37809	N	0.001936	D	0.87501	0.6193	M	0.75777	2.31	0.34820	D	0.738578	D;D	0.69078	0.997;0.997	D;P	0.65010	0.931;0.905	D	0.88931	0.3373	10	0.87932	D	0	.	10.8061	0.46518	0.5849:0.0:0.4151:0.0	.	986;967	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	967;986	ENSP00000311859:R967S;ENSP00000352785:R986S	ENSP00000311859:R967S	R	+	3	2	DSG4	27247334	0.977000	0.34250	0.914000	0.36105	0.960000	0.62799	0.127000	0.15790	0.025000	0.15241	0.533000	0.62120	AGA		0.443	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28993336	A	T	28993336	3	4	190	1	0	0	0	0	1	0	0	0	4779	301	11	5	3084	5	DSG4	18	28993336	Missense_Mutation	SNP	A	TCGA-23-1123-01A-01W-0488-09		28993336	49083912	68	10921											
MYO1F	4542	genome.wustl.edu	37	19	8620639	8620639	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr19:8620639C>G	ENST00000338257.8	-	2	312	c.45G>C	c.(43-45)aaG>aaC	p.K15N		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	15					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K15N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCCGCTCTGCTTCACGTTGT	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											79	86	84					19																	8620639		2086	4208	6294	8526639	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.45G>C	19.37:g.8620639C>G	ENSP00000344871:p.Lys15Asn		8526639	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728826	0.69074	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95342	-3.68	3.98	0.387	0.16259	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.95443	0.8520	M	0.82630	2.6	0.58432	D	0.999997	P;D;D	0.56287	0.849;0.975;0.975	P;P;P	0.57468	0.544;0.821;0.821	D	0.93487	0.6832	10	0.66056	D	0.02	.	7.3467	0.26668	0.0:0.5715:0.0:0.4285	.	15;15;15	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	N	60;15	ENSP00000344871:K15N	ENSP00000304899:K60N	K	-	3	2	MYO1F	8526639	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.827000	0.27421	0.339000	0.23719	0.455000	0.32223	AAG		0.632	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			G	8620639	C	G	8620639	3	3	190	1	0	0	0	0	1	0	0	0	10073	796	28	3	3359	3	MYO1F	19	8620639	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09		8620639	50508344	69	10922											
SMARCA4	6597	genome.wustl.edu	37	19	11129635	11129635	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr19:11129635C>A	ENST00000429416.3	+	18	2722	c.2441C>A	c.(2440-2442)aCg>aAg	p.T814K	SMARCA4_ENST00000541122.2_Missense_Mutation_p.T814K|SMARCA4_ENST00000358026.2_Missense_Mutation_p.T814K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T814K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T814K|CTC-215O4.4_ENST00000587831.1_RNA	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	814	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)|p.T814K(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCATCAGAACGCTGTCCAAC	0.547			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	2	Substitution - Missense(1)|Unknown(1)	ovary(1)|lung(1)	19											183	156	166					19																	11129635		2203	4300	6503	10990635	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2441C>A	19.37:g.11129635C>A	ENSP00000395654:p.Thr814Lys		10990635	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671694	0.88348	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	4.95	4.95	0.65309	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.97340	3.985	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.999;0.999	D	0.99349	1.0914	10	0.87932	D	0	-35.1325	17.1079	0.86668	0.0:1.0:0.0:0.0	.	814;814;814;814;814;814;814	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	K	814;814;878;814;814;814;814;814	ENSP00000395654:T814K;ENSP00000350720:T814K;ENSP00000343896:T814K;ENSP00000445036:T814K;ENSP00000392837:T814K;ENSP00000397783:T814K;ENSP00000414727:T814K	ENSP00000343896:T814K	T	+	2	0	SMARCA4	10990635	1.000000	0.71417	0.341000	0.25589	0.054000	0.15201	7.627000	0.83176	2.571000	0.86741	0.591000	0.81541	ACG		0.547	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		A	11129635	C	A	11129635	3	1	190	1	0	0	0	0	1	0	0	0	14773	536	19	3	2503	3	SMARCA4	19	11129635	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	2508996	11129635	47999348	70	10923											
MAN2B1	4125	genome.wustl.edu	37	19	12776302	12776302	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr19:12776302G>C	ENST00000456935.2	-	3	340	c.300C>G	c.(298-300)atC>atG	p.I100M	CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.I97M|WDR83_ENST00000418543.3_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.I100M	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	100					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.I100M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCGAGTCCAGGATGTACTGCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											119	118	118					19																	12776302		2203	4300	6503	12637302	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.300C>G	19.37:g.12776302G>C	ENSP00000395473:p.Ile100Met		12637302	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857195	0.51376	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.76186	-1.0;-1.0	5.86	4.82	0.62117	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.50627	D	0.000110	D	0.90511	0.7027	H	0.96943	3.91	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93413	0.6770	10	0.87932	D	0	-62.3424	14.2791	0.66199	0.0:0.0:0.8502:0.1498	.	100;100	G5E928;O00754	.;MA2B1_HUMAN	M	100;39;100	ENSP00000395473:I100M;ENSP00000221363:I100M	ENSP00000221363:I100M	I	-	3	3	MAN2B1	12637302	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	3.577000	0.53885	1.481000	0.48307	-0.152000	0.13540	ATC		0.542	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			C	12776302	G	C	12776302	3	2	190	1	0	0	0	0	1	0	0	0	9216	1164	41	3	2823	3	MAN2B1	19	12776302	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	1646667	12776302	46352681	71	10924											
CACNA1A	773	genome.wustl.edu	37	19	13325133	13325133	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr19:13325133C>T	ENST00000360228.5	-	40	5853	c.5854G>A	c.(5854-5856)Gtg>Atg	p.V1952M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1953M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1953					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.V1953M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCTTCCCCACGGTGAGGTCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											34	38	37					19																	13325133		2157	4259	6416	13186133	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5854G>A	19.37:g.13325133C>T	ENSP00000353362:p.Val1952Met		13186133	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332350	0.60853	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.85088	-1.94	4.72	4.72	0.59763	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.000000	0.64402	D	0.000005	D	0.92420	0.7594	M	0.82056	2.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.93643	0.6966	10	0.87932	D	0	.	16.4549	0.84009	0.0:1.0:0.0:0.0	.	1953;1958;1952;1953	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	M	1952;1958;1953;1953	ENSP00000353362:V1952M	ENSP00000317661:V1953M	V	-	1	0	CACNA1A	13186133	1.000000	0.71417	0.974000	0.42286	0.956000	0.61745	7.394000	0.79862	2.184000	0.69523	0.491000	0.48974	GTG		0.632	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13325133	C	T	13325133	3	4	190	1	0	0	0	0	1	0	0	0	2538	536	19	1	1698	1	CACNA1A	19	13325133	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	548831	13325133	45803850	72	10925											
EMR3	84658	genome.wustl.edu	37	19	14758092	14758092	+	Silent	SNP	A	A	G			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr19:14758092A>G	ENST00000253673.5	-	8	883	c.783T>C	c.(781-783)gaT>gaC	p.D261D	EMR3_ENST00000443157.2_Silent_p.D135D|EMR3_ENST00000344373.4_Silent_p.D209D|EMR3_ENST00000599900.1_Silent_p.D46D	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	261					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D261D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GATACACTTGATCTTTCTTAT	0.428																																																1	Substitution - coding silent(1)	ovary(1)	19											167	138	148					19																	14758092		2203	4300	6503	14619092	SO:0001819	synonymous_variant	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.783T>C	19.37:g.14758092A>G			14619092		Silent	SNP	ENST00000253673.5	37	CCDS12315.1																																																																																				0.428	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		G	14758092	A	G	14758092	2	3	190	1	0	0	0	0	0	0	0	1	5106	330	12	4		4	EMR3	19	14758092	Silent	SNP	A	TCGA-23-1123-01A-01W-0488-09	1432959	14758092	44370891	73	10926											
EPS15L1	58513	genome.wustl.edu	37	19	16495995	16495995	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr19:16495995C>G	ENST00000248070.6	-	21	2331	c.2192G>C	c.(2191-2193)gGa>gCa	p.G731A	EPS15L1_ENST00000594975.1_Missense_Mutation_p.G733A|EPS15L1_ENST00000455140.2_Missense_Mutation_p.G731A|EPS15L1_ENST00000535753.2_Missense_Mutation_p.G731A	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	731	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G731A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGACCCACTTCCGAAGGGATC	0.532																																																1	Substitution - Missense(1)	ovary(1)	19											110	115	114					19																	16495995		2203	4300	6503	16356995	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2192G>C	19.37:g.16495995C>G	ENSP00000248070:p.Gly731Ala		16356995	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018971	0.54576	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.31247	1.92;1.85;1.5	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.41027	1.25	0.80722	D	1	D;P;B;B	0.58268	0.982;0.489;0.035;0.152	P;B;B;B	0.46543	0.52;0.118;0.038;0.065	T	0.01762	-1.1279	10	0.21540	T	0.41	.	18.5423	0.91033	0.0:1.0:0.0:0.0	.	733;731;731;731	A8K5P4;A2RRF3;Q9UBC2;G3V0H2	.;.;EP15R_HUMAN;.	A	731	ENSP00000393313:G731A;ENSP00000248070:G731A;ENSP00000440103:G731A	ENSP00000248070:G731A	G	-	2	0	EPS15L1	16356995	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.500000	0.73687	2.642000	0.89623	0.460000	0.39030	GGA		0.532	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		G	16495995	C	G	16495995	3	3	190	1	0	0	0	0	1	0	0	0	5193	855	30	3	414	3	EPS15L1	19	16495995	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	1737903	16495995	42632988	74	10927											
ZNF285	26974	genome.wustl.edu	37	19	44896566	44896566	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr19:44896566T>C	ENST00000330997.4	-	3	144	c.80A>G	c.(79-81)aAa>aGa	p.K27R	CTC-512J12.4_ENST00000588655.1_RNA|ZNF285_ENST00000544719.2_Missense_Mutation_p.K27R|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.K34R	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K27R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TATCTGGGCTTTATCCAATAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	19											153	134	141					19																	44896566		2203	4300	6503	49588406	SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.80A>G	19.37:g.44896566T>C	ENSP00000333595:p.Lys27Arg		49588406	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510326	0.44660	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.01745	4.66	3.07	-5.9	0.02275	Krueppel-associated box (4);	.	.	.	.	T	0.01523	0.0049	N	0.20986	0.625	0.09310	N	1	P;B	0.37914	0.611;0.348	B;B	0.40444	0.329;0.329	T	0.41305	-0.9516	9	0.37606	T	0.19	.	8.0968	0.30833	0.1273:0.0:0.5555:0.3171	.	51;27	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	R	50;27	ENSP00000333595:K27R	ENSP00000333595:K27R	K	-	2	0	ZNF285	49588406	0.000000	0.05858	0.000000	0.03702	0.885000	0.51271	-1.842000	0.01681	-0.979000	0.03529	0.369000	0.22263	AAA		0.458	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		C	44896566	T	C	44896566	3	2	190	1	0	0	0	0	1	0	0	0	17822	1841	64	4	1700	4	ZNF285	19	44896566	Missense_Mutation	SNP	T	TCGA-23-1123-01A-01W-0488-09	28400571	44896566	14232417	75	10928											
ARHGAP35	2909	genome.wustl.edu	37	19	47424187	47424187	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr19:47424187G>T	ENST00000404338.3	+	1	2255	c.2255G>T	c.(2254-2256)aGt>aTt	p.S752I		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	752					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.S752I(1)									AAGCAAATCAGTCAAGTTTTG	0.433																																																1	Substitution - Missense(1)	ovary(1)	19											91	88	89					19																	47424187		1950	4155	6105	52116027	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2255G>T	19.37:g.47424187G>T	ENSP00000385720:p.Ser752Ile		52116027	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149011	0.37923	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.45668	0.89	5.39	4.28	0.50868	.	0.081164	0.85682	D	0.000000	T	0.37571	0.1008	L	0.39898	1.24	0.44149	D	0.996947	P	0.39940	0.696	B	0.40285	0.325	T	0.26467	-1.0102	10	0.46703	T	0.11	-23.1953	14.8208	0.70070	0.0:0.145:0.855:0.0	.	752	Q9NRY4-2	.	I	752	ENSP00000385720:S752I	ENSP00000324820:S752I	S	+	2	0	ARHGAP35	52116027	0.882000	0.30256	1.000000	0.80357	0.992000	0.81027	1.973000	0.40550	2.684000	0.91462	0.655000	0.94253	AGT		0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		T	47424187	G	T	47424187	3	4	190	1	0	0	0	0	1	0	0	0	6795	1029	36	3	2257	3	ARHGAP35	19	47424187	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	2527621	47424187	11704796	76	10929											
ZNFX1	57169	genome.wustl.edu	37	20	47866023	47866023	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr20:47866023T>C	ENST00000396105.1	-	14	3784	c.3538A>G	c.(3538-3540)Agg>Ggg	p.R1180G	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1180G	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1180							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1180G(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACATGGACCCTGACGCCAGCA	0.532																																																2	Substitution - Missense(2)	ovary(2)	20											158	143	148					20																	47866023		2203	4300	6503	47299430	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3538A>G	20.37:g.47866023T>C	ENSP00000379412:p.Arg1180Gly		47299430	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490293	0.26686	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.92495	-3.05;-3.05	6.03	6.03	0.97812	.	0.103596	0.64402	D	0.000004	D	0.94338	0.8180	M	0.93197	3.39	0.30480	N	0.772486	B	0.28470	0.213	B	0.30716	0.119	D	0.92892	0.6332	10	0.66056	D	0.02	-23.3123	15.3822	0.74669	0.0:0.0:0.0:1.0	.	1180	Q9P2E3	ZNFX1_HUMAN	G	1180	ENSP00000360817:R1180G;ENSP00000379412:R1180G	ENSP00000360817:R1180G	R	-	1	2	ZNFX1	47299430	1.000000	0.71417	0.999000	0.59377	0.359000	0.29487	6.142000	0.71750	2.308000	0.77769	0.533000	0.62120	AGG		0.532	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		C	47866023	T	C	47866023	3	2	190	1	0	0	0	0	1	0	0	0	18205	1579	55	4	2222	4	ZNFX1	20	47866023	Missense_Mutation	SNP	T	TCGA-23-1123-01A-01W-0488-09		47866023	15159497	77	10930											
ADNP	23394	genome.wustl.edu	37	20	49509183	49509183	+	Missense_Mutation	SNP	C	C	T	rs370301614		TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr20:49509183C>T	ENST00000396029.3	-	5	2635	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	ADNP_ENST00000349014.3_Missense_Mutation_p.V690I|ADNP_ENST00000371602.4_Missense_Mutation_p.V690I|ADNP_ENST00000396032.3_Missense_Mutation_p.V690I	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	690					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V690I(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GTCTTTCCAACGCCCCTGCAG	0.483																																																1	Substitution - Missense(1)	ovary(1)	20						C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	132	116	121		2068,2068	6.1	1	20		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADNP	NM_015339.2,NM_181442.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	690/1103,690/1103	49509183	1,13005	2203	4300	6503	48942590	SO:0001583	missense	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2068G>A	20.37:g.49509183C>T	ENSP00000379346:p.Val690Ile		48942590	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924691	0.73213	0.0	1.16E-4	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	L	0.53249	1.67	0.58432	D	0.999999	D	0.69078	0.997	D	0.68039	0.955	T	0.73981	-0.3811	9	0.49607	T	0.09	-19.6929	20.6397	0.99537	0.0:1.0:0.0:0.0	.	690	Q9H2P0	ADNP_HUMAN	I	690	.	ENSP00000342905:V690I	V	-	1	0	ADNP	48942590	1.000000	0.71417	0.952000	0.39060	0.991000	0.79684	7.476000	0.81055	2.880000	0.98712	0.650000	0.86243	GTT		0.483	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		T	49509183	C	T	49509183	3	4	190	1	0	0	0	0	1	0	0	0	323	536	19	1	1244	1	ADNP	20	49509183	Missense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	1643160	49509183	13516337	78	10931											
GNAS	2778	genome.wustl.edu	37	20	57480494	57480494	+	Nonsense_Mutation	SNP	C	C	G	rs372290095		TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr20:57480494C>G	ENST00000371085.3	+	6	913	c.489C>G	c.(487-489)taC>taG	p.Y163*	GNAS_ENST00000354359.7_Nonsense_Mutation_p.Y164*|GNAS_ENST00000306090.10_Nonsense_Mutation_p.Y149*|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Nonsense_Mutation_p.Y806*|GNAS_ENST00000371095.3_Nonsense_Mutation_p.Y149*|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Nonsense_Mutation_p.Y148*|GNAS_ENST00000371102.4_Nonsense_Mutation_p.Y792*|GNAS_ENST00000371075.3_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	163					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Y806*(2)|p.Y163*(2)|p.Y806Y(1)|p.Y163Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTGCCTGCTACGAACGCTCCA	0.468			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	6	Substitution - Nonsense(4)|Substitution - coding silent(2)	ovary(4)|prostate(2)	20	GRCh37	CM002274	GNAS	M							127	116	120					20																	57480494		2203	4300	6503	56913889	SO:0001587	stop_gained	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.489C>G	20.37:g.57480494C>G	ENSP00000360126:p.Tyr163*		56913889	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Nonsense_Mutation	SNP	ENST00000371085.3	37	CCDS13472.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.68|11.68	1.709782|1.709782	0.30322|0.30322	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371100;ENST00000371102;ENST00000349036;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	.|.	.|.	.|.	5.93|5.93	-11.9|-11.9	0.00025|0.00025	.|.	.|0.299614	.|0.37053	.|N	.|0.002265	T|.	0.43100|.	0.1232|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.58370|.	-0.7648|.	3|.	.|0.10902	.|T	.|0.67	.|.	19.0914|19.0914	0.93228|0.93228	0.0:0.426:0.0:0.574|0.0:0.426:0.0:0.574	.|.	.|.	.|.	.|.	G|X	178|806;792;180;149;163;164;148;149	.|.	.|ENSP00000265620:Y148X	R|Y	+|+	1|3	2|2	GNAS|GNAS	56913889|56913889	0.000000|0.000000	0.05858|0.05858	0.228000|0.228000	0.23943|0.23943	0.653000|0.653000	0.38743|0.38743	-2.176000|-2.176000	0.01262|0.01262	-2.589000|-2.589000	0.00457|0.00457	-2.036000|-2.036000	0.00420|0.00420	CGA|TAC		0.468	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		G	57480494	C	G	57480494	4	3	190	1	0	0	0	0	0	1	0	0	6510	547	19	3	3328	3	GNAS	20	57480494	Nonsense_Mutation	SNP	C	TCGA-23-1123-01A-01W-0488-09	7971311	57480494	5545026	79	10932											
POTED	317754	genome.wustl.edu	37	21	14983001	14983001	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chr21:14983001A>G	ENST00000299443.5	+	1	504	c.452A>G	c.(451-453)aAa>aGa	p.K151R		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	151						plasma membrane (GO:0005886)		p.K151R(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TGGTGGGGTAAAGTCCCCAGA	0.577																																																1	Substitution - Missense(1)	ovary(1)	21											10	17	16					21																	14983001		665	2939	3604	13904872	SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.452A>G	21.37:g.14983001A>G	ENSP00000299443:p.Lys151Arg		13904872	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940228	0.34283	.	.	ENSG00000166351	ENST00000299443	T	0.52295	0.67	1.13	1.13	0.20643	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.39784	0.1091	L	0.47716	1.5	0.09310	N	1	P	0.34587	0.458	B	0.39152	0.292	T	0.36212	-0.9757	9	0.52906	T	0.07	.	4.4646	0.11682	1.0:0.0:0.0:0.0	.	151	Q86YR6	POTED_HUMAN	R	151	ENSP00000299443:K151R	ENSP00000299443:K151R	K	+	2	0	POTED	13904872	0.002000	0.14202	0.001000	0.08648	0.158000	0.22134	1.367000	0.34204	0.756000	0.33013	0.155000	0.16302	AAA		0.577	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		G	14983001	A	G	14983001	3	3	190	1	0	0	0	0	1	0	0	0	12263	14	1	4	454	4	POTED	21	14983001	Missense_Mutation	SNP	A	TCGA-23-1123-01A-01W-0488-09		14983001	33146894	80	10933											
ZNF182	7569	genome.wustl.edu	37	X	47836716	47836716	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chrX:47836716G>A	ENST00000396965.1	-	7	1120	c.770C>T	c.(769-771)aCg>aTg	p.T257M	ZNF182_ENST00000376943.3_Missense_Mutation_p.T238M|ZNF182_ENST00000305127.6_Missense_Mutation_p.T257M	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	257					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.T257M(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTCTCTCCCGTATGAGTTCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											74	72	72					X																	47836716		2203	4300	6503	47721660	SO:0001583	missense	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.770C>T	X.37:g.47836716G>A	ENSP00000380165:p.Thr257Met		47721660	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533754	0.45073	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.18810	2.19;2.19;2.19	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47783	0.1464	M	0.80422	2.495	0.33233	D	0.556232	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.99;0.991;0.975	T	0.64296	-0.6441	9	0.87932	D	0	.	13.3752	0.60734	0.0:0.0:1.0:0.0	.	237;238;257	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	M	238;257;257	ENSP00000366142:T238M;ENSP00000380165:T257M;ENSP00000306351:T257M	ENSP00000306351:T257M	T	-	2	0	ZNF182	47721660	0.997000	0.39634	0.977000	0.42913	0.910000	0.53928	2.347000	0.44036	2.110000	0.64415	0.594000	0.82650	ACG		0.403	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		A	47836716	G	A	47836716	3	1	190	1	0	0	0	0	1	0	0	0	17750	1145	40	1	1153	1	ZNF182	23	47836716	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09		47836716	107433844	81	10934											
ZC4H2	55906	genome.wustl.edu	37	X	64141803	64141803	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chrX:64141803G>A	ENST00000374839.3	-	2	225	c.119C>T	c.(118-120)tCa>tTa	p.S40L	ZC4H2_ENST00000447788.2_Missense_Mutation_p.S40L|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000545618.1_Missense_Mutation_p.S35L|ZC4H2_ENST00000337990.2_Missense_Mutation_p.S17L	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	40					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.S40*(2)|p.S40L(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTTTCCTCTGACTCAAGTGC	0.507																																																3	Substitution - Nonsense(2)|Substitution - Missense(1)	lung(2)|ovary(1)	X											158	107	124					X																	64141803		2203	4300	6503	64058528	SO:0001583	missense	55906			AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.119C>T	X.37:g.64141803G>A	ENSP00000363972:p.Ser40Leu		64058528	B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710967	0.48517	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.48	4.56	0.56223	.	0.060317	0.64402	D	0.000002	T	0.32164	0.0820	N	0.08118	0	0.54753	D	0.999984	B;B	0.27882	0.192;0.126	B;B	0.29077	0.098;0.042	T	0.16158	-1.0412	9	0.29301	T	0.29	.	12.5338	0.56131	0.0:0.1647:0.8353:0.0	.	40;40	B4DED0;Q9NQZ6	.;ZC4H2_HUMAN	L	40;35;40;17	.	ENSP00000338650:S17L	S	-	2	0	ZC4H2	64058528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.166000	0.64965	2.436000	0.82500	0.600000	0.82982	TCA		0.507	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		A	64141803	G	A	64141803	3	1	190	1	0	0	0	0	1	0	0	0	17578	1294	45	2	590	2	ZC4H2	23	64141803	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	16305087	64141803	91128757	82	10935											
DGAT2L6	347516	genome.wustl.edu	37	X	69421817	69421817	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chrX:69421817G>T	ENST00000333026.3	+	5	650	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	184					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.V184L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGTTATTGTGGTGGGTGGAGC	0.532																																																1	Substitution - Missense(1)	ovary(1)	X											109	88	95					X																	69421817		2203	4300	6503	69338542	SO:0001583	missense	347516			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.550G>T	X.37:g.69421817G>T	ENSP00000328036:p.Val184Leu		69338542	Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453145	0.63290	.	.	ENSG00000184210	ENST00000333026	T	0.16073	2.37	4.51	3.62	0.41486	.	0.302194	0.27567	N	0.018793	T	0.30324	0.0761	M	0.66506	2.035	0.33933	D	0.642297	P	0.39216	0.664	P	0.49922	0.626	T	0.46638	-0.9177	10	0.66056	D	0.02	-21.6203	11.1799	0.48623	0.0:0.1895:0.8105:0.0	.	184	Q6ZPD8	DG2L6_HUMAN	L	184	ENSP00000328036:V184L	ENSP00000328036:V184L	V	+	1	0	DGAT2L6	69338542	0.985000	0.35326	0.959000	0.39883	0.897000	0.52465	1.725000	0.38074	0.997000	0.38969	0.594000	0.82650	GTG		0.532	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		T	69421817	G	T	69421817	3	4	190	1	0	0	0	0	1	0	0	0	4459	1261	44	3	568	3	DGAT2L6	23	69421817	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	5280014	69421817	85848743	83	10936											
PABPC5	140886	genome.wustl.edu	37	X	90691013	90691013	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chrX:90691013G>C	ENST00000312600.3	+	2	651	c.437G>C	c.(436-438)gGt>gCt	p.G146A	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	146	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G146A(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GGCTCTAAGGGTTATGCCTAT	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											80	70	73					X																	90691013		2203	4300	6503	90577669	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.437G>C	X.37:g.90691013G>C	ENSP00000308012:p.Gly146Ala		90577669	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695323	0.68386	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.27256	1.68	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75522	-0.3288	10	0.87932	D	0	.	13.8905	0.63736	0.0:0.0:1.0:0.0	.	146	Q96DU9	PABP5_HUMAN	A	146;114	ENSP00000308012:G146A	ENSP00000308012:G146A	G	+	2	0	PABPC5	90577669	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.429000	0.80309	2.450000	0.82876	0.600000	0.82982	GGT		0.488	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		C	90691013	G	C	90691013	3	2	190	1	0	0	0	0	1	0	0	0	11367	1261	44	3	439	3	PABPC5	23	90691013	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	21269196	90691013	64579547	84	10937											
ZMAT1	84460	genome.wustl.edu	37	X	101152946	101152946	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1123-01A-01W-0488-09	TCGA-23-1123-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	22cfe2c8-5e1f-4b64-854d-2a7a02bf10fe	378b119a-44b0-468e-9270-a6247a96a77a	g.chrX:101152946G>A	ENST00000372782.3	-	5	447	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L134F	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	134						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L134F(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGAGCAATAAGTGGAGAGCTA	0.393																																																1	Substitution - Missense(1)	ovary(1)	X											158	125	136					X																	101152946		2203	4300	6503	101039602	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.400C>T	X.37:g.101152946G>A	ENSP00000361868:p.Leu134Phe		101039602	Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774439	0.02951	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.22134	1.97;1.97	4.59	-1.44	0.08856	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	1.017460	0.07909	N	0.973892	T	0.11965	0.0291	L	0.27053	0.805	0.21499	N	0.999666	B	0.18166	0.026	B	0.15052	0.012	T	0.33085	-0.9882	10	0.51188	T	0.08	-0.0416	1.3095	0.02094	0.1334:0.3782:0.1667:0.3217	.	134	Q5H9K5	ZMAT1_HUMAN	F	134	ENSP00000361868:L134F;ENSP00000437529:L134F	ENSP00000361868:L134F	L	-	1	0	ZMAT1	101039602	0.015000	0.18098	0.014000	0.15608	0.001000	0.01503	-0.684000	0.05173	-0.760000	0.04677	-2.445000	0.00210	CTT		0.393	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			A	101152946	G	A	101152946	3	1	190	1	0	0	0	0	1	0	0	0	17691	1029	36	2	1528	2	ZMAT1	23	101152946	Missense_Mutation	SNP	G	TCGA-23-1123-01A-01W-0488-09	10461933	101152946	54117614	85	10938											
PRAMEF12	390999	genome.wustl.edu	37	1	12835105	12835105	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:12835105C>G	ENST00000357726.4	+	1	122	c.95C>G	c.(94-96)cCc>cGc	p.P32R		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	32					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.P32R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGCTGCCCAGGGAGCTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											61	68	66					1																	12835105		2203	4300	6503	12757692	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.95C>G	1.37:g.12835105C>G	ENSP00000350358:p.Pro32Arg		12757692		Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.570291	0.45798	.	.	ENSG00000116726	ENST00000357726	T	0.08193	3.12	2.68	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	M	0.94021	3.485	0.25397	N	0.988479	D	0.89917	1.0	D	0.91635	0.999	T	0.20075	-1.0286	10	0.87932	D	0	.	11.5003	0.50433	0.0:1.0:0.0:0.0	.	32	O95522	PRA12_HUMAN	R	32	ENSP00000350358:P32R	ENSP00000350358:P32R	P	+	2	0	PRAMEF12	12757692	0.014000	0.17966	0.084000	0.20598	0.055000	0.15305	1.510000	0.35790	1.791000	0.52520	0.195000	0.17529	CCC		0.622	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		G	12835105	C	G	12835105	3	3	191	1	0	0	0	0	1	0	0	0	12431	623	22	3	97	3	PRAMEF12	1	12835105	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09		12835105	236415516	1	10939											
PTPRF	5792	genome.wustl.edu	37	1	44069511	44069511	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:44069511C>G	ENST00000359947.4	+	16	3028	c.2688C>G	c.(2686-2688)aaC>aaG	p.N896K	PTPRF_ENST00000372414.3_Missense_Mutation_p.N896K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.N887K|PTPRF_ENST00000372413.3_Missense_Mutation_p.N887K|PTPRF_ENST00000422171.2_Missense_Mutation_p.N244K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	896	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N886K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGCCAAGAACCGGGCTGGCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											53	56	55					1																	44069511		2203	4300	6503	43842098	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2688C>G	1.37:g.44069511C>G	ENSP00000353030:p.Asn896Lys		43842098	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.56|15.56|15.56	2.868728|2.868728|2.868728	0.51588|0.51588|0.51588	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171|ENST00000414879|ENST00000429895	T;T;T;T;T|.|.	0.62232|.|.	0.04;0.04;0.04;0.04;0.04|.|.	5.03|5.03|5.03	4.12|4.12|4.12	0.48240|0.48240|0.48240	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.|.	0.000000|.|.	0.37437|.|.	N|.|.	0.002090|.|.	T|T|T	0.80534|0.80534|0.80534	0.4641|0.4641|0.4641	M|M|M	0.92880|0.92880|0.92880	3.355|3.355|3.355	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	D;D;P;D|.|.	0.89917|.|.	0.999;0.994;0.884;1.0|.|.	D;D;P;D|.|.	0.91635|.|.	0.994;0.953;0.503;0.999|.|.	D|D|D	0.84066|0.84066|0.84066	0.0377|0.0377|0.0377	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	.|.|.	10.9193|10.9193|10.9193	0.47154|0.47154|0.47154	0.0:0.8481:0.0:0.1519|0.0:0.8481:0.0:0.1519|0.0:0.8481:0.0:0.1519	.|.|.	541;244;887;896|.|.	Q59FI2;F2Z3B8;P10586-2;P10586|.|.	.;.;.;PTPRF_HUMAN|.|.	K|A|S	896;887;896;887;244|310|542	ENSP00000353030:N896K;ENSP00000398822:N887K;ENSP00000361491:N896K;ENSP00000361490:N887K;ENSP00000387885:N244K|.|.	ENSP00000353030:N896K|.|.	N|P|T	+|+|+	3|1|2	2|0|0	PTPRF|PTPRF|PTPRF	43842098|43842098|43842098	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.437000|0.437000|0.437000	0.31866|0.31866|0.31866	4.892000|4.892000|4.892000	0.63193|0.63193|0.63193	1.264000|1.264000|1.264000	0.44198|0.44198|0.44198	-0.136000|-0.136000|-0.136000	0.14681|0.14681|0.14681	AAC|CCG|ACC		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			G	44069511	C	G	44069511	3	3	191	1	0	0	0	0	1	0	0	0	12804	506	18	3	2742	3	PTPRF	1	44069511	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	31234406	44069511	205181110	2	10940											
USP33	23032	genome.wustl.edu	37	1	78180334	78180334	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:78180334G>C	ENST00000370793.1	-	20	2619	c.2273C>G	c.(2272-2274)cCt>cGt	p.P758R	USP33_ENST00000370792.3_Missense_Mutation_p.P750R|USP33_ENST00000370794.3_Missense_Mutation_p.P727R|USP33_ENST00000357428.1_Missense_Mutation_p.P758R	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	758	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P758R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATTTGAAATAGGGCCAGGTTC	0.348																																					Melanoma(152;72 1870 11110 26780 42647)											1	Substitution - Missense(1)	ovary(1)	1											94	95	95					1																	78180334		2203	4300	6503	77952922	SO:0001583	missense	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2273C>G	1.37:g.78180334G>C	ENSP00000359829:p.Pro758Arg		77952922	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.535970|4.535970	0.85812|0.85812	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.12569	.|2.69;2.67;2.67;2.71	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38719|0.38719	0.1051|0.1051	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;0.997;1.0	T|T	0.45041|0.45041	-0.9288|-0.9288	5|10	.|0.87932	.|D	.|0	.|.	19.1552|19.1552	0.93507|0.93507	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|750;727;758;92	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7;Q9Y417	.|.;.;UBP33_HUMAN;.	V|R	363|727;758;758;750	.|ENSP00000359830:P727R;ENSP00000359829:P758R;ENSP00000350009:P758R;ENSP00000359828:P750R	.|ENSP00000350009:P758R	L|P	-|-	1|2	2|0	USP33|USP33	77952922|77952922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.461000|9.461000	0.97646|0.97646	2.586000|2.586000	0.87340|0.87340	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.348	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		C	78180334	G	C	78180334	3	2	191	1	0	0	0	0	1	0	0	0	17064	1000	35	3	591	3	USP33	1	78180334	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	34110823	78180334	171070287	3	10941											
ZNF326	284695	genome.wustl.edu	37	1	90482997	90482997	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:90482997G>T	ENST00000340281.4	+	8	1191	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y	ZNF326_ENST00000370447.3_Missense_Mutation_p.D261Y|ZNF326_ENST00000455342.2_Missense_Mutation_p.D144Y	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	350					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.D350Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AACTAAATTTGATAAAGTAGT	0.299																																																1	Substitution - Missense(1)	ovary(1)	1											64	65	65					1																	90482997		2200	4288	6488	90255585	SO:0001583	missense	284695			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1048G>T	1.37:g.90482997G>T	ENSP00000340796:p.Asp350Tyr		90255585	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827649	0.71143	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.49720	0.77;0.77;0.77	5.48	4.56	0.56223	.	0.053403	0.64402	D	0.000001	T	0.55529	0.1926	L	0.54323	1.7	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.57596	-0.7784	10	0.62326	D	0.03	-17.2863	14.5819	0.68298	0.0719:0.0:0.9281:0.0	.	350;350	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	Y	350;350;261;144	ENSP00000340796:D350Y;ENSP00000359476:D261Y;ENSP00000403470:D144Y	ENSP00000340796:D350Y	D	+	1	0	ZNF326	90255585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.033000	0.70925	2.578000	0.87016	0.650000	0.86243	GAT		0.299	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		T	90482997	G	T	90482997	3	4	191	1	0	0	0	0	1	0	0	0	17846	1290	45	3	1082	3	ZNF326	1	90482997	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	12302663	90482997	158767624	4	10942											
AMY2A	279	genome.wustl.edu	37	1	104166801	104166801	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:104166801G>T	ENST00000414303.2	+	9	1368	c.1304G>T	c.(1303-1305)gGg>gTg	p.G435V	AMY2A_ENST00000497748.1_3'UTR	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	435					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)	p.G435V(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	GTGGCTTTTGGGAGAGGAAAC	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											1	1	1					1																	104166801		50	162	212	103968324	SO:0001583	missense	279			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.1304G>T	1.37:g.104166801G>T	ENSP00000397582:p.Gly435Val		103968324	B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	CCDS783.1	.	.	.	.	.	.	.	.	.	.	-	12.38	1.920638	0.33908	.	.	ENSG00000243480	ENST00000414303	T	0.75260	-0.92	2.94	2.94	0.34122	Alpha-amylase, C-terminal all beta (2);Glycosyl hydrolase, family 13, all-beta (1);	0.125799	0.53938	D	0.000043	D	0.87111	0.6096	H	0.95780	3.72	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.89811	0.3982	10	0.51188	T	0.08	.	13.9272	0.63970	0.0:0.0:1.0:0.0	.	435	P04746	AMYP_HUMAN	V	435	ENSP00000397582:G435V	ENSP00000397582:G435V	G	+	2	0	AMY2A	103968324	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	9.214000	0.95140	1.652000	0.50683	0.305000	0.20034	GGG		0.343	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		T	104166801	G	T	104166801	3	4	191	1	0	0	0	0	1	0	0	0	594	1232	43	3	1338	3	AMY2A	1	104166801	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	13683804	104166801	145083820	5	10943											
STXBP3	6814	genome.wustl.edu	37	1	109315285	109315285	+	Splice_Site	SNP	A	A	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:109315285A>T	ENST00000370008.3	+	7	488		c.e7-1		STXBP3_ENST00000485167.1_Splice_Site	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3						blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GTCTTAACTTAGGTGTATACT	0.289																																																2	Unknown(2)	ovary(1)|lung(1)	1											85	75	78					1																	109315285		2203	4300	6503	109116808	SO:0001630	splice_region_variant	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.439-1A>T	1.37:g.109315285A>T			109116808	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Splice_Site	SNP	ENST00000370008.3	37	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165249	0.78339	.	.	ENSG00000116266	ENST00000370008	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0072	0.80372	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STXBP3	109116808	1.000000	0.71417	0.985000	0.45067	0.847000	0.48162	8.856000	0.92245	2.260000	0.74910	0.528000	0.53228	.		0.289	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269	Intron	T	109315285	A	T	109315285	5	4	191	1	0	0	0	0	0	0	1	0	15356	434	15	5	463	5	STXBP3	1	109315285	Splice_Site	SNP	A	TCGA-23-1124-01A-01W-0488-09	5148484	109315285	139935336	6	10944											
ACP6	51205	genome.wustl.edu	37	1	147131780	147131780	+	Silent	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:147131780G>A	ENST00000369238.6	-	2	777	c.330C>T	c.(328-330)taC>taT	p.Y110Y	ACP6_ENST00000392988.2_Silent_p.Y110Y	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	110	Substrate binding. {ECO:0000250}.				dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.Y110Y(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TGGTCTCATGGTATTGAGAGT	0.517																																																1	Substitution - coding silent(1)	ovary(1)	1											101	102	102					1																	147131780		2203	4300	6503	145598404	SO:0001819	synonymous_variant	51205			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.330C>T	1.37:g.147131780G>A			145598404	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Silent	SNP	ENST00000369238.6	37	CCDS928.1																																																																																				0.517	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		A	147131780	G	A	147131780	2	1	191	1	0	0	0	0	0	0	0	1	165	1256	44	2		2	ACP6	1	147131780	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	37816495	147131780	102118841	7	10945											
CA14	23632	genome.wustl.edu	37	1	150234556	150234556	+	Splice_Site	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:150234556G>A	ENST00000369111.4	+	4	1226		c.e4-1		snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV						bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TTTCCTCACAGTGCAACTCTC	0.547																																																1	Unknown(1)	ovary(1)	1											124	106	112					1																	150234556		2203	4300	6503	148501180	SO:0001630	splice_region_variant	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.257-1G>A	1.37:g.150234556G>A			148501180	Q5TB24|Q8NCF4	Splice_Site	SNP	ENST00000369111.4	37	CCDS947.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068584	0.76301	.	.	ENSG00000118298	ENST00000369111	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9363	0.79712	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CA14	148501180	1.000000	0.71417	0.991000	0.47740	0.977000	0.68977	6.713000	0.74686	2.642000	0.89623	0.462000	0.41574	.		0.547	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113	Intron	A	150234556	G	A	150234556	5	1	191	1	0	0	0	0	0	0	1	0	2515	1043	36	2	270	2	CA14	1	150234556	Splice_Site	SNP	G	TCGA-23-1124-01A-01W-0488-09	3102776	150234556	99016065	8	10946											
POGZ	23126	genome.wustl.edu	37	1	151400755	151400755	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:151400755G>C	ENST00000271715.2	-	6	1017	c.703C>G	c.(703-705)Ctt>Gtt	p.L235V	POGZ_ENST00000531094.1_Missense_Mutation_p.L182V|POGZ_ENST00000361398.3_Missense_Mutation_p.L182V|POGZ_ENST00000491586.1_Missense_Mutation_p.L182V|POGZ_ENST00000368863.2_Missense_Mutation_p.L140V|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.L235V|POGZ_ENST00000392723.1_Missense_Mutation_p.L182V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	235					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L235V(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGAATGGTAAGAGTGGCCGGG	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											292	279	284					1																	151400755		2203	4300	6503	149667379	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.703C>G	1.37:g.151400755G>C	ENSP00000271715:p.Leu235Val		149667379	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869012	0.72065	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000011	T	0.79493	0.4455	N	0.19112	0.55	0.80722	D	1	D;P;D;D;D;D;D	0.71674	0.997;0.956;0.998;0.992;0.99;0.974;0.997	D;D;D;D;D;D;D	0.77557	0.978;0.931;0.99;0.984;0.979;0.969;0.978	T	0.82345	-0.0503	10	0.54805	T	0.06	-15.8125	17.1134	0.86682	0.0:0.0:1.0:0.0	.	182;235;140;235;182;182;235	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	V	182;235;182;140;235;182;182;235	ENSP00000376484:L182V;ENSP00000271715:L235V;ENSP00000354467:L182V;ENSP00000357856:L140V;ENSP00000386836:L235V;ENSP00000431259:L182V;ENSP00000418408:L182V	ENSP00000271715:L235V	L	-	1	0	POGZ	149667379	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.881000	0.75584	2.615000	0.88500	0.467000	0.42956	CTT		0.597	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		C	151400755	G	C	151400755	3	2	191	1	0	0	0	0	1	0	0	0	12186	942	33	3	3599	3	POGZ	1	151400755	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	1166199	151400755	97849866	9	10947											
DUSP27	92235	genome.wustl.edu	37	1	167097259	167097259	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr1:167097259G>A	ENST00000361200.2	+	6	3057	c.2891G>A	c.(2890-2892)aGa>aAa	p.R964K	DUSP27_ENST00000271385.5_Missense_Mutation_p.R964K|DUSP27_ENST00000443333.1_Missense_Mutation_p.R964K|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	964	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R964K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGTACACCAGATCGTCCCTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											61	55	57					1																	167097259		2203	4300	6503	165363883	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2891G>A	1.37:g.167097259G>A	ENSP00000354483:p.Arg964Lys		165363883	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136070	0.56936	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03689	3.84;3.84;3.84	5.42	5.42	0.78866	.	0.000000	0.53938	D	0.000045	T	0.02610	0.0079	M	0.65975	2.015	0.27363	N	0.955915	P	0.48503	0.911	B	0.39185	0.293	T	0.19976	-1.0289	10	0.87932	D	0	-23.0185	12.5574	0.56261	0.0761:0.0:0.9239:0.0	.	964	Q5VZP5	DUS27_HUMAN	K	964	ENSP00000354483:R964K;ENSP00000271385:R964K;ENSP00000404874:R964K	ENSP00000271385:R964K	R	+	2	0	DUSP27	165363883	0.988000	0.35896	0.671000	0.29857	0.420000	0.31355	4.532000	0.60608	2.530000	0.85305	0.643000	0.83706	AGA		0.493	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167097259	G	A	167097259	3	1	191	1	0	0	0	0	1	0	0	0	4824	942	33	2	2909	2	DUSP27	1	167097259	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	15696504	167097259	82153362	10	10948											
SDC1	6382	genome.wustl.edu	37	2	20405145	20405145	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:20405145C>G	ENST00000254351.4	-	2	351	c.107G>C	c.(106-108)gGc>gCc	p.G36A	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000381150.1_Missense_Mutation_p.G36A|SDC1_ENST00000403076.1_Missense_Mutation_p.G36A	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	36					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.G36A(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		ATCCCCAGAGCCATCTTGATC	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											84	86	85					2																	20405145		2203	4300	6503	20268626	SO:0001583	missense	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.107G>C	2.37:g.20405145C>G	ENSP00000254351:p.Gly36Ala		20268626	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726417	0.69074	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.45668	2.19;2.19;1.01;0.89	4.46	4.46	0.54185	.	0.228386	0.30410	N	0.009686	T	0.54935	0.1889	M	0.72118	2.19	0.29469	N	0.857155	D;P	0.56521	0.976;0.81	P;P	0.55824	0.785;0.601	T	0.57768	-0.7754	10	0.87932	D	0	-12.1344	11.2977	0.49288	0.0:0.8143:0.1857:0.0	.	36;36	E9PHH3;P18827	.;SDC1_HUMAN	A	36;36;36;44	ENSP00000254351:G36A;ENSP00000370542:G36A;ENSP00000384613:G36A;ENSP00000400773:G44A	ENSP00000254351:G36A	G	-	2	0	SDC1	20268626	0.992000	0.36948	0.924000	0.36721	0.826000	0.46750	2.737000	0.47393	2.415000	0.81967	0.462000	0.41574	GGC		0.557	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		G	20405145	C	G	20405145	3	3	191	1	0	0	0	0	1	0	0	0	13954	739	26	3	841	3	SDC1	2	20405145	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09		20405145	222794228	11	10949											
ATAD2B	54454	genome.wustl.edu	37	2	23980761	23980761	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:23980761G>C	ENST00000238789.5	-	25	3948	c.3605C>G	c.(3604-3606)tCt>tGt	p.S1202C	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1202						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.S1202C(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGGTCATAGATAAGTCTCC	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											146	142	143					2																	23980761		1963	4144	6107	23834265	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3605C>G	2.37:g.23980761G>C	ENSP00000238789:p.Ser1202Cys		23834265	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.23|18.23	3.578903|3.578903	0.65878|0.65878	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.92249	.|-3.0	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.656831	.|0.16012	.|N	.|0.233728	D|D	0.91442|0.91442	0.7299|0.7299	L|L	0.27053|0.27053	0.805|0.805	0.41527|0.41527	D|D	0.988432|0.988432	.|D;D	.|0.65815	.|0.983;0.995	.|B;P	.|0.55824	.|0.439;0.785	D|D	0.91110|0.91110	0.4921|0.4921	5|10	.|0.56958	.|D	.|0.05	.|.	14.2451|14.2451	0.65983|0.65983	0.0714:0.0:0.9286:0.0|0.0714:0.0:0.9286:0.0	.|.	.|1202;1197	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	V|C	478|1202;370	.|ENSP00000238789:S1202C	.|ENSP00000238789:S1202C	L|S	-|-	1|2	2|0	ATAD2B|ATAD2B	23834265|23834265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.396000|6.396000	0.73234|0.73234	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CTA|TCT		0.443	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		C	23980761	G	C	23980761	3	2	191	1	0	0	0	0	1	0	0	0	1072	942	33	3	787	3	ATAD2B	2	23980761	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	3575616	23980761	219218612	12	10950											
USP34	9736	genome.wustl.edu	37	2	61522381	61522381	+	Silent	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:61522381G>A	ENST00000398571.2	-	31	4375	c.4299C>T	c.(4297-4299)agC>agT	p.S1433S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1433					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S1433S(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCTTGTGGGCGCTCTTAATTT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	2											106	99	102					2																	61522381		1808	4069	5877	61375885	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4299C>T	2.37:g.61522381G>A			61375885	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																				0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61522381	G	A	61522381	2	1	191	1	0	0	0	0	0	0	0	1	17065	1078	38	1		1	USP34	2	61522381	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	37541620	61522381	181676992	13	10951											
PROKR1	10887	genome.wustl.edu	37	2	68882521	68882521	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:68882521T>G	ENST00000303786.3	+	3	1415	c.995T>G	c.(994-996)aTg>aGg	p.M332R	PROKR1_ENST00000394342.2_Missense_Mutation_p.M332R			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	332					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.M332R(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCATCGCCATGAGCAACAGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											196	140	159					2																	68882521		2203	4300	6503	68736025	SO:0001583	missense	10887			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.995T>G	2.37:g.68882521T>G	ENSP00000303775:p.Met332Arg		68736025	A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004102	0.74932	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72725	-0.68;-0.68	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88386	0.3005	10	0.87932	D	0	.	12.7537	0.57321	0.0:0.0:0.0:1.0	.	332	Q8TCW9	PKR1_HUMAN	R	332	ENSP00000303775:M332R;ENSP00000377874:M332R	ENSP00000303775:M332R	M	+	2	0	PROKR1	68736025	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.582000	0.82546	2.326000	0.78906	0.533000	0.62120	ATG		0.512	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			G	68882521	T	G	68882521	3	3	191	1	0	0	0	0	1	0	0	0	12555	1464	51	5	1001	5	PROKR1	2	68882521	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	7360140	68882521	174316852	14	10952											
SLC4A5	57835	genome.wustl.edu	37	2	74491340	74491340	+	Missense_Mutation	SNP	G	G	A	rs374602113		TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:74491340G>A	ENST00000377634.4	-	10	1048	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SLC4A5_ENST00000359484.4_Missense_Mutation_p.R153C|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R217C|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R217C|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R217C|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R217C|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R217C|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R153C					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.R217C(3)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTTTGGTGGCGGTGCCTCCTC	0.557																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	2						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	189	160	169		649,649	4.8	1	2		169	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC4A5	NM_021196.3,NM_133478.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	217/1138,217/1122	74491340	1,13005	2203	4300	6503	74344848	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.649C>T	2.37:g.74491340G>A	ENSP00000366861:p.Arg217Cys		74344848		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105952	0.77096	0.0	1.16E-4	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.83	4.83	0.62350	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.81654	0.4868	M	0.85945	2.785	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.988;1.0;1.0;1.0;0.996	B;D;D;D;P	0.97110	0.445;0.999;1.0;1.0;0.81	D	0.83423	0.0034	10	0.66056	D	0.02	.	10.7977	0.46470	0.0:0.0:0.8111:0.1889	.	217;217;153;217;217	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	C	217;217;217;153;217;153;217;217;217;217;101	ENSP00000377587:R217C;ENSP00000251768:R217C;ENSP00000352461:R153C;ENSP00000395804:R217C;ENSP00000351513:R153C;ENSP00000350475:R217C;ENSP00000366859:R217C;ENSP00000366861:R217C;ENSP00000405678:R217C;ENSP00000414162:R101C	ENSP00000251768:R217C	R	-	1	0	SLC4A5	74344848	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	6.292000	0.72725	2.648000	0.89879	0.655000	0.94253	CGC		0.557	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			A	74491340	G	A	74491340	3	1	191	1	0	0	0	0	1	0	0	0	14660	1116	39	1	2852	1	SLC4A5	2	74491340	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	5608819	74491340	168708033	15	10953											
SLC4A5	57835	genome.wustl.edu	37	2	74531799	74531799	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:74531799G>T	ENST00000377634.4	-	7	487	c.88C>A	c.(88-90)Cct>Act	p.P30T	SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000483195.1_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P30T|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P30T|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P30T|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P30T|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P30T|SLC4A5_ENST00000358683.4_Intron					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.P30T(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGTGGATAGGAGGGCATTCT	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											62	62	62					2																	74531799		2203	4300	6503	74385307	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.88C>A	2.37:g.74531799G>T	ENSP00000366861:p.Pro30Thr		74385307		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	2.559	-0.302379	0.05495	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000423644;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000444570;ENST00000436454	T;T;T;T;T;T;T	0.75589	-0.95;-0.76;-0.4;-0.95;-0.76;-0.95;-0.12	4.93	1.21	0.21127	.	0.187555	0.47455	D	0.000237	T	0.29491	0.0735	N	0.00462	-1.47	0.09310	N	0.999999	B;B;B;B	0.14012	0.002;0.002;0.009;0.002	B;B;B;B	0.13407	0.006;0.004;0.009;0.006	T	0.43180	-0.9407	10	0.02654	T	1	.	3.818	0.08824	0.6112:0.1869:0.2018:0.0	.	30;30;30;30	Q9BY07-4;E7EQT3;Q9BY07;Q9BY07-3	.;.;S4A5_HUMAN;.	T	30	ENSP00000377587:P30T;ENSP00000251768:P30T;ENSP00000395804:P30T;ENSP00000350475:P30T;ENSP00000366859:P30T;ENSP00000366861:P30T;ENSP00000405678:P30T	ENSP00000251768:P30T	P	-	1	0	SLC4A5	74385307	0.957000	0.32711	0.523000	0.27875	0.052000	0.14988	1.080000	0.30779	0.115000	0.18071	-0.484000	0.04775	CCT		0.488	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			T	74531799	G	T	74531799	3	4	191	1	0	0	0	0	1	0	0	0	14660	1174	41	3	3425	3	SLC4A5	2	74531799	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	40459	74531799	168667574	16	10954											
FMNL2	114793	genome.wustl.edu	37	2	153417433	153417433	+	Silent	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:153417433C>T	ENST00000288670.9	+	6	847	c.480C>T	c.(478-480)agC>agT	p.S160S		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	160	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)		p.S160S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTGTGGAGAGCTCGGTGGACA	0.468																																																1	Substitution - coding silent(1)	ovary(1)	2											50	51	51					2																	153417433		1876	4109	5985	153125679	SO:0001819	synonymous_variant	114793			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.480C>T	2.37:g.153417433C>T			153125679	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000288670.9	37	CCDS46429.1																																																																																				0.468	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		T	153417433	C	T	153417433	2	4	191	1	0	0	0	0	0	0	0	1	5952	796	28	2		2	FMNL2	2	153417433	Silent	SNP	C	TCGA-23-1124-01A-01W-0488-09	78885634	153417433	89781940	17	10955											
SLC38A11	151258	genome.wustl.edu	37	2	165795967	165795967	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:165795967A>T	ENST00000409149.3	-	5	653	c.362T>A	c.(361-363)cTt>cAt	p.L121H	SLC38A11_ENST00000409662.1_Missense_Mutation_p.L121H|SLC38A11_ENST00000303735.4_Missense_Mutation_p.L99H|SLC38A11_ENST00000493887.1_5'Flank|SLC38A11_ENST00000409058.1_Missense_Mutation_p.L152H	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	121					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.L99H(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TACCTTTCCAAGCTTTGCTAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											96	94	95					2																	165795967		2203	4299	6502	165504213	SO:0001583	missense	151258				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.362T>A	2.37:g.165795967A>T	ENSP00000386272:p.Leu121His		165504213	B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410990	0.83340	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	5.97	5.97	0.96955	.	0.056893	0.64402	D	0.000001	T	0.32793	0.0841	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.29150	-1.0021	10	0.87932	D	0	-28.97	13.9686	0.64225	1.0:0.0:0.0:0.0	.	121;99	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	H	99;121;152;121	ENSP00000306178:L99H;ENSP00000386272:L121H;ENSP00000387345:L152H;ENSP00000386774:L121H	ENSP00000306178:L99H	L	-	2	0	SLC38A11	165504213	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.105000	0.89553	2.275000	0.75901	0.533000	0.62120	CTT		0.363	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		T	165795967	A	T	165795967	3	4	191	1	0	0	0	0	1	0	0	0	14606	72	3	5	886	5	SLC38A11	2	165795967	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	12378534	165795967	77403406	18	10956											
XIRP2	129446	genome.wustl.edu	37	2	168100320	168100336	+	Frame_Shift_Del	DEL	TAAGGCAAAGTGGTTAT	TAAGGCAAAGTGGTTAT	-			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	TAAGGCAAAGTGGTTAT	TAAGGCAAAGTGGTTAT	TAAGGCAAAGTGGTTAT	-	TAAGGCAAAGTGGTTAT	TAAGGCAAAGTGGTTAT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:168100320_168100336delTAAGGCAAAGTGGTTAT	ENST00000409195.1	+	9	2507_2523	c.2418_2434delTAAGGCAAAGTGGTTAT	c.(2416-2436)agtaaggcaaagtggttatttfs	p.KAKWLF807fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.KAKWLF585fs|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.KAKWLF807fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	632					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGGGGTGAGTAAGGCAAAGTGGTTATTTGAAACCCA	0.373																																																0			2																																								167808582	SO:0001589	frameshift_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2418_2434delTAAGGCAAAGTGGTTAT	2.37:g.168100320_168100336delTAAGGCAAAGTGGTTAT	ENSP00000386840:p.Lys807fs		167808566	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Del	DEL	ENST00000409195.1	37	CCDS42769.1																																																																																				0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		-	168100336	TAAGGCAAAGTGGTTAT	-	168100320	7	5	191	1	0	1	0	1	0	0	0	0	17430	1635	57	0	2448	0	XIRP2	2	168100320	Frame_Shift_Del	DEL	TAAGGCAAAGTGGTTAT	TCGA-23-1124-01A-01W-0488-09	2304353	168100320	75099053	19	10957											
CDCA7	83879	genome.wustl.edu	37	2	174230274	174230274	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:174230274A>G	ENST00000347703.3	+	6	896	c.752A>G	c.(751-753)gAg>gGg	p.E251G	CDCA7_ENST00000410019.3_Missense_Mutation_p.E209G|CDCA7_ENST00000392567.2_Missense_Mutation_p.E251G|CDCA7_ENST00000306721.3_Missense_Mutation_p.E330G|CDCA7_ENST00000410101.3_Missense_Mutation_p.E286G	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	251	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E330G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GAGGAGTTGGAGAACGTCTGC	0.478																																																1	Substitution - Missense(1)	ovary(1)	2											76	71	73					2																	174230274		2203	4300	6503	173938520	SO:0001583	missense	83879			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.752A>G	2.37:g.174230274A>G	ENSP00000272789:p.Glu251Gly		173938520	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.037366	0.54896	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.50277	0.79;0.75;0.77;0.8;0.79	5.71	3.3	0.37823	.	0.512426	0.24035	N	0.042146	T	0.45196	0.1330	L	0.54323	1.7	0.31247	N	0.694481	B;B;B;B	0.23185	0.081;0.081;0.081;0.057	B;B;B;B	0.32533	0.08;0.05;0.034;0.147	T	0.51647	-0.8679	10	0.59425	D	0.04	-7.0781	9.474	0.38860	0.7877:0.0:0.2123:0.0	.	209;286;251;330	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	G	251;251;330;286;209	ENSP00000272789:E251G;ENSP00000376348:E251G;ENSP00000306968:E330G;ENSP00000386656:E286G;ENSP00000386833:E209G	ENSP00000306968:E330G	E	+	2	0	CDCA7	173938520	1.000000	0.71417	0.979000	0.43373	0.862000	0.49288	2.218000	0.42889	0.434000	0.26340	0.402000	0.26972	GAG		0.478	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		G	174230274	A	G	174230274	3	3	191	1	0	0	0	0	1	0	0	0	3090	304	11	4	1015	4	CDCA7	2	174230274	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	6129954	174230274	68969099	20	10958											
FRZB	2487	genome.wustl.edu	37	2	183730937	183730937	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:183730937G>T	ENST00000295113.4	-	1	953	c.344C>A	c.(343-345)gCc>gAc	p.A115D		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	115	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A115D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GCCCTGCCGGGCCCGCTCGCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	2											42	43	43					2																	183730937		2203	4300	6503	183439182	SO:0001583	missense	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.344C>A	2.37:g.183730937G>T	ENSP00000295113:p.Ala115Asp		183439182	O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174333	0.94807	.	.	ENSG00000162998	ENST00000295113	T	0.81330	-1.48	5.04	5.04	0.67666	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94245	0.7488	10	0.87932	D	0	.	18.5725	0.91140	0.0:0.0:1.0:0.0	.	115	Q92765	SFRP3_HUMAN	D	115	ENSP00000295113:A115D	ENSP00000295113:A115D	A	-	2	0	FRZB	183439182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.542000	0.98086	2.611000	0.88343	0.462000	0.41574	GCC		0.622	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		T	183730937	G	T	183730937	3	4	191	1	0	0	0	0	1	0	0	0	6065	1203	42	3	657	3	FRZB	2	183730937	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	9500663	183730937	59468436	21	10959											
CPS1	1373	genome.wustl.edu	37	2	211476989	211476989	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:211476989G>C	ENST00000233072.5	+	20	2736	c.2540G>C	c.(2539-2541)aGc>aCc	p.S847T	CPS1_ENST00000430249.2_Missense_Mutation_p.S853T|CPS1_ENST00000451903.2_Missense_Mutation_p.S396T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	847					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.S847T(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TCTGAACCAAGCAGCACGCGT	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											105	103	104					2																	211476989		2203	4300	6503	211185234	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2540G>C	2.37:g.211476989G>C	ENSP00000233072:p.Ser847Thr		211185234	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	1.629	-0.519526	0.04171	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96168	-3.93;-3.93;-3.93	5.65	4.77	0.60923	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.207754	0.52532	N	0.000068	D	0.88247	0.6385	N	0.11154	0.105	0.39298	D	0.964858	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.005	T	0.83109	-0.0124	10	0.02654	T	1	0.7729	16.6933	0.85327	0.0:0.8685:0.1315:0.0	.	857;847	Q59HF8;P31327	.;CPSM_HUMAN	T	853;855;847;396	ENSP00000402608:S853T;ENSP00000233072:S847T;ENSP00000406136:S396T	ENSP00000233072:S847T	S	+	2	0	CPS1	211185234	1.000000	0.71417	0.987000	0.45799	0.402000	0.30811	4.713000	0.61895	1.380000	0.46344	-0.265000	0.10407	AGC		0.438	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			C	211476989	G	C	211476989	3	2	191	1	0	0	0	0	1	0	0	0	3823	971	34	3	2640	3	CPS1	2	211476989	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	27746052	211476989	31722384	22	10960											
UGT1A8	54658	genome.wustl.edu	37	2	234526510	234526510	+	Missense_Mutation	SNP	C	C	T	rs45504099	byFrequency	TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr2:234526510C>T	ENST00000373450.4	+	1	220	c.157C>T	c.(157-159)Cat>Tat	p.H53Y		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	55					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.H53Y(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CCTCAGGGGGCATGAGGTGGT	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											98	84	89					2																	234526510		2203	4298	6501	234191249	SO:0001583	missense	54576			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.157C>T	2.37:g.234526510C>T	ENSP00000362549:p.His53Tyr		234191249	A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058140	0.36277	.	.	ENSG00000242366	ENST00000373450	T	0.68903	-0.36	3.96	3.96	0.45880	.	.	.	.	.	D	0.87148	0.6105	H	0.95850	3.73	0.38961	D	0.958559	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.92518	0.6022	9	0.87932	D	0	.	16.6114	0.84884	0.0:1.0:0.0:0.0	.	53;53	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	Y	53	ENSP00000362549:H53Y	ENSP00000362549:H53Y	H	+	1	0	UGT1A8	234191249	1.000000	0.71417	0.739000	0.30968	0.026000	0.11368	5.323000	0.65858	2.226000	0.72624	0.505000	0.49811	CAT		0.522	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			T	234526510	C	T	234526510	3	4	191	1	0	0	0	0	1	0	0	0	16951	710	25	2	159	2	UGT1A8	2	234526510	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	23049521	234526510	8672863	23	10961											
SYN2	6854	genome.wustl.edu	37	3	12211352	12211352	+	RNA	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr3:12211352G>T	ENST00000432424.2	+	0	1426							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.L349L(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACCAGCTGCTGTCCAGGACTC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	3											67	67	67					3																	12211352		2039	4218	6257	12186352			6854				CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12211352G>T			12186352	A8MY98	Missense_Mutation	SNP	ENST00000432424.2	37																																																																																					0.537	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		T	12211352	G	T	12211352	1	4	191	0	1	0	0	0	0	0	0	0	15441	1364	48	3		3	SYN2	3	12211352	RNA	SNP	G	TCGA-23-1124-01A-01W-0488-09		12211352	185811078	24	10962											
XCR1	2829	genome.wustl.edu	37	3	46062720	46062720	+	Silent	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr3:46062720G>A	ENST00000309285.3	-	2	1076	c.720C>T	c.(718-720)ccC>ccT	p.P240P	XCR1_ENST00000542109.1_Silent_p.P240P	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	240					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.P240P(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGAAGTTGTAGGGACCCCAGC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	3											70	71	71					3																	46062720		2203	4300	6503	46037724	SO:0001819	synonymous_variant	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.720C>T	3.37:g.46062720G>A			46037724		Silent	SNP	ENST00000309285.3	37	CCDS2736.1																																																																																				0.602	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			A	46062720	G	A	46062720	2	1	191	1	0	0	0	0	0	0	0	1	17425	987	35	2		2	XCR1	3	46062720	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	33851368	46062720	151959710	25	10963											
BSN	8927	genome.wustl.edu	37	3	49699949	49699949	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr3:49699949G>T	ENST00000296452.4	+	6	10785	c.10671G>T	c.(10669-10671)gaG>gaT	p.E3557D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3557					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.E3557D(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCGTGAGGAGGGCTACATCC	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											54	58	57					3																	49699949		2203	4300	6503	49674953	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10671G>T	3.37:g.49699949G>T	ENSP00000296452:p.Glu3557Asp		49674953	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247914	0.22880	.	.	ENSG00000164061	ENST00000296452	T	0.17854	2.25	5.97	1.7	0.24286	.	0.054929	0.64402	D	0.000001	T	0.09379	0.0231	N	0.24115	0.695	0.34705	D	0.727124	B	0.24963	0.115	B	0.22386	0.039	T	0.30238	-0.9985	10	0.15952	T	0.53	-23.4864	8.7191	0.34430	0.4761:0.0:0.5239:0.0	.	3557	Q9UPA5	BSN_HUMAN	D	3557	ENSP00000296452:E3557D	ENSP00000296452:E3557D	E	+	3	2	BSN	49674953	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	0.297000	0.19101	0.427000	0.26145	0.655000	0.94253	GAG		0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		T	49699949	G	T	49699949	3	4	191	1	0	0	0	0	1	0	0	0	1530	991	35	3	10693	3	BSN	3	49699949	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	3637229	49699949	148322481	26	10964											
UBA7	7318	genome.wustl.edu	37	3	49847748	49847748	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr3:49847748G>T	ENST00000333486.3	-	13	1739	c.1581C>A	c.(1579-1581)aaC>aaA	p.N527K	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	527	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.N527K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGAGAAAAAGTTATCCCCAT	0.602																																																1	Substitution - Missense(1)	ovary(1)	3											89	90	90					3																	49847748		2203	4300	6503	49822752	SO:0001583	missense	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1581C>A	3.37:g.49847748G>T	ENSP00000333266:p.Asn527Lys		49822752	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574376	0.45902	.	.	ENSG00000182179	ENST00000333486	T	0.41400	1.0	5.67	1.88	0.25563	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	1.610700	0.02527	N	0.093168	T	0.33323	0.0859	N	0.26130	0.795	0.36394	D	0.862706	B	0.09022	0.002	B	0.15052	0.012	T	0.10042	-1.0647	10	0.41790	T	0.15	0.3008	7.1487	0.25597	0.1839:0.0:0.6919:0.1242	.	527	P41226	UBA7_HUMAN	K	527	ENSP00000333266:N527K	ENSP00000333266:N527K	N	-	3	2	UBA7	49822752	1.000000	0.71417	0.113000	0.21522	0.784000	0.44337	2.775000	0.47702	0.068000	0.16574	0.561000	0.74099	AAC		0.602	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		T	49847748	G	T	49847748	3	4	191	1	0	0	0	0	1	0	0	0	16833	1020	36	3	1505	3	UBA7	3	49847748	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	147799	49847748	148174682	27	10965											
C3orf1	51300	genome.wustl.edu	37	3	119219566	119219566	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr3:119219566C>G	ENST00000494664.1	+	2	421	c.219C>G	c.(217-219)gaC>gaG	p.D73E	TIMMDC1_ENST00000493694.1_Intron|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	73						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.D73E(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTTCAAAGGACCTTGCTAATA	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											133	133	133					3																	119219566		2203	4300	6503	120702256	SO:0001583	missense	51300			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.219C>G	3.37:g.119219566C>G	ENSP00000418803:p.Asp73Glu		120702256	D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660201	0.00772	.	.	ENSG00000113845	ENST00000494664	T	0.21734	1.99	5.53	1.84	0.25277	.	0.050377	0.85682	N	0.000000	T	0.02193	0.0068	N	0.00027	-2.65	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36407	-0.9749	10	0.02654	T	1	-14.145	4.6368	0.12528	0.6658:0.1653:0.1689:0.0	.	73	Q9NPL8	TIDC1_HUMAN	E	73	ENSP00000418803:D73E	ENSP00000264244:D73E	D	+	3	2	TIMMDC1	120702256	0.998000	0.40836	0.998000	0.56505	0.034000	0.12701	0.656000	0.24948	0.170000	0.19704	-0.256000	0.11100	GAC		0.398	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		G	119219566	C	G	119219566	3	3	191	1	0	0	0	0	1	0	0	0	2206	506	18	3	225	3	C3orf1	3	119219566	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	69371818	119219566	78802864	28	10966											
C3orf36	80111	genome.wustl.edu	37	3	133647488	133647488	+	Silent	SNP	T	T	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr3:133647488T>G	ENST00000408895.2	-	1	1168	c.160A>C	c.(160-162)Agg>Cgg	p.R54R		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	54								p.R54R(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						AATGCCTTCCTGAGCGTGGTT	0.647																																																1	Substitution - coding silent(1)	ovary(1)	3											39	41	41					3																	133647488		2203	4300	6503	135130178	SO:0001819	synonymous_variant	80111			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.160A>C	3.37:g.133647488T>G			135130178	Q3SXR3|Q9H6K8	Silent	SNP	ENST00000408895.2	37	CCDS3083.1																																																																																				0.647	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		G	133647488	T	G	133647488	2	3	191	1	0	0	0	0	0	0	0	1	2226	1579	55	5		5	C3orf36	3	133647488	Silent	SNP	T	TCGA-23-1124-01A-01W-0488-09	14427922	133647488	64374942	29	10967											
GPR149	344758	genome.wustl.edu	37	3	154146819	154146819	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr3:154146819T>C	ENST00000389740.2	-	1	685	c.586A>G	c.(586-588)Atc>Gtc	p.I196V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	196					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I196V(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCGTACACGATAGAGAGGAAT	0.642																																																1	Substitution - Missense(1)	ovary(1)	3											47	53	51					3																	154146819		2034	4186	6220	155629513	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.586A>G	3.37:g.154146819T>C	ENSP00000374390:p.Ile196Val		155629513		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	0.709	-0.787796	0.02884	.	.	ENSG00000174948	ENST00000389740	T	0.36340	1.26	5.41	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.874705	0.10482	N	0.669506	T	0.19805	0.0476	N	0.17872	0.535	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.17832	T	0.49	-2.6402	6.1675	0.20398	0.1227:0.5418:0.0:0.3355	.	196	Q86SP6	GP149_HUMAN	V	196	ENSP00000374390:I196V	ENSP00000374390:I196V	I	-	1	0	GPR149	155629513	0.000000	0.05858	0.084000	0.20598	0.002000	0.02628	-0.116000	0.10724	0.640000	0.30582	-0.242000	0.12053	ATC		0.642	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		C	154146819	T	C	154146819	3	2	191	1	0	0	0	0	1	0	0	0	6654	1406	49	4	1625	4	GPR149	3	154146819	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	20499331	154146819	43875611	30	10968											
MASP1	5648	genome.wustl.edu	37	3	186954120	186954120	+	Intron	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr3:186954120C>T	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Silent_p.K400K|MASP1_ENST00000296280.6_Silent_p.K513K	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGACATGCTCCTTGGAGACTG	0.597																																																0			3											106	92	96					3																	186954120		2203	4300	6503	188436814	SO:0001627	intron_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5148G>A	3.37:g.186954120C>T			188436814	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	CCDS33907.1																																																																																				0.597	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		T	186954120	C	T	186954120	1	4	191	0	1	0	0	0	0	0	0	0	9322	680	24	2		2	MASP1	3	186954120	Intron	SNP	C	TCGA-23-1124-01A-01W-0488-09	32807301	186954120	11068310	31	10969											
TFRC	7037	genome.wustl.edu	37	3	195798994	195798994	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr3:195798994C>T	ENST00000360110.4	-	5	633	c.464G>A	c.(463-465)cGt>cAt	p.R155H	TFRC_ENST00000540528.1_3'UTR|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000392396.3_Missense_Mutation_p.R155H|TFRC_ENST00000420415.1_Missense_Mutation_p.R74H|TFRC_ENST00000535031.1_De_novo_Start_OutOfFrame	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	155					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.R155H(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TCCAGCCTCACGAGGGACATA	0.333			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	1	Substitution - Missense(1)	ovary(1)	3											72	72	72					3																	195798994		2203	4300	6503	197283391	SO:0001583	missense	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.464G>A	3.37:g.195798994C>T	ENSP00000353224:p.Arg155His		197283391	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884309	0.51908	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.62105	0.05;0.05;0.05	5.68	4.8	0.61643	.	0.306462	0.40640	N	0.001058	T	0.52403	0.1732	M	0.62266	1.93	0.80722	D	1	B	0.25105	0.118	B	0.10450	0.005	T	0.47787	-0.9090	10	0.02654	T	1	-10.3439	13.2258	0.59914	0.0:0.9183:0.0:0.0817	.	155	P02786	TFR1_HUMAN	H	155;74;155	ENSP00000353224:R155H;ENSP00000390133:R74H;ENSP00000376197:R155H	ENSP00000353224:R155H	R	-	2	0	TFRC	197283391	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.160000	0.31761	2.847000	0.97988	0.591000	0.81541	CGT		0.333	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			T	195798994	C	T	195798994	3	4	191	1	0	0	0	0	1	0	0	0	15812	536	19	1	1878	1	TFRC	3	195798994	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	8844874	195798994	2223436	32	10970											
LRPAP1	4043	genome.wustl.edu	37	4	3519782	3519782	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr4:3519782G>T	ENST00000500728.2	-	5	876	c.730C>A	c.(730-732)Cag>Aag	p.Q244K	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	244	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.Q244K(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CTGTAGCCCTGGTGGCTGACC	0.657																																																1	Substitution - Missense(1)	ovary(1)	4											44	39	41					4																	3519782		2203	4300	6503	3489580	SO:0001583	missense	4043				CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.730C>A	4.37:g.3519782G>T	ENSP00000421922:p.Gln244Lys		3489580	D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	G	1.798	-0.477718	0.04414	.	.	ENSG00000163956	ENST00000500728	T	0.40756	1.02	4.2	3.35	0.38373	Alpha-2-macroglobulin receptor-associated protein, domain 1 (1);Alpha-2-macroglobulin RAP, C-terminal (1);	0.258640	0.37809	N	0.001922	T	0.25754	0.0627	L	0.28694	0.88	0.30482	N	0.772289	B	0.15141	0.012	B	0.19666	0.026	T	0.26815	-1.0092	10	0.02654	T	1	-51.8463	10.6212	0.45481	0.0:0.3797:0.6203:0.0	.	244	P30533	AMRP_HUMAN	K	244	ENSP00000421922:Q244K	ENSP00000421922:Q244K	Q	-	1	0	LRPAP1	3489580	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	3.443000	0.52907	0.984000	0.38629	-0.304000	0.09214	CAG		0.657	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			T	3519782	G	T	3519782	3	4	191	1	0	0	0	0	1	0	0	0	8964	1357	47	3	359	3	LRPAP1	4	3519782	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09		3519782	187634494	33	10971											
BMP2K	55589	genome.wustl.edu	37	4	79786722	79786722	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	G	C	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr4:79786722C>G	ENST00000335016.5	+	10	1245	c.1079C>G	c.(1078-1080)aCc>aGc	p.T360S	BMP2K_ENST00000502871.1_Missense_Mutation_p.T360S	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	360					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.T360S(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATAACAGATACCATTGGACCA	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											98	91	93					4																	79786722		2203	4300	6503	80005746	SO:0001583	missense	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1079C>G	4.37:g.79786722C>G	ENSP00000334836:p.Thr360Ser		80005746	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.831991|2.831991	0.50845|0.50845	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889|ENST00000502613	T;T|.	0.71341|.	2.05;-0.56|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Protein kinase-like domain (1);|.	0.378699|.	0.27437|.	N|.	0.019370|.	T|.	0.61350|.	0.2340|.	L|L	0.39020|0.39020	1.185|1.185	0.35972|0.35972	D|D	0.835412|0.835412	B;B|.	0.28998|.	0.112;0.23|.	B;B|.	0.27076|.	0.076;0.05|.	T|.	0.63301|.	-0.6668|.	10|.	0.23891|.	T|.	0.37|.	-12.5546|-12.5546	19.2484|19.2484	0.93912|0.93912	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	360;360|.	Q9NSY1;Q4W5H2|.	BMP2K_HUMAN;.|.	S|X	360;360;374|52	ENSP00000421768:T360S;ENSP00000334836:T360S|.	ENSP00000264889:T374S|.	T|Y	+|+	2|3	0|2	BMP2K|BMP2K	80005746|80005746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.570000|2.570000	0.45981|0.45981	2.629000|2.629000	0.89072|0.89072	0.655000|0.655000	0.94253|0.94253	ACC|TAC		0.368	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		G	79786722	C	G	79786722	3	3	191	1	0	0	0	0	1	0	0	0	1460	507	18	3	1117	3	BMP2K	4	79786722	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	76266940	79786722	111367554	34	10972											
SPP1	6696	genome.wustl.edu	37	4	88903788	88903788	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr4:88903788C>A	ENST00000395080.3	+	7	812	c.685C>A	c.(685-687)Cag>Aag	p.Q229K	SPP1_ENST00000360804.4_Missense_Mutation_p.Q202K|SPP1_ENST00000237623.7_Missense_Mutation_p.Q215K|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	229					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)	p.Q229K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TGAAACGAGTCAGCTGGATGA	0.517																																																1	Substitution - Missense(1)	ovary(1)	4											152	139	143					4																	88903788		2203	4300	6503	89122812	SO:0001583	missense	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.685C>A	4.37:g.88903788C>A	ENSP00000378517:p.Gln229Lys		89122812	B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212074	0.58452	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.13	4.27	0.50696	.	0.467756	0.20009	N	0.101164	T	0.59307	0.2184	L	0.61218	1.895	0.18873	N	0.999989	B;D;B;D;B	0.69078	0.375;0.985;0.229;0.997;0.057	B;D;B;D;B	0.76071	0.127;0.981;0.072;0.987;0.032	T	0.51718	-0.8670	10	0.66056	D	0.02	-5.5096	11.1777	0.48610	0.1839:0.8161:0.0:0.0	.	242;188;215;202;229	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	K	207;188;215;229;202;188	ENSP00000237623:Q215K;ENSP00000378517:Q229K;ENSP00000354042:Q202K;ENSP00000422973:Q188K	ENSP00000237623:Q215K	Q	+	1	0	SPP1	89122812	1.000000	0.71417	0.032000	0.17829	0.079000	0.17450	1.955000	0.40372	1.245000	0.43885	0.579000	0.79373	CAG		0.517	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			A	88903788	C	A	88903788	3	1	191	1	0	0	0	0	1	0	0	0	15088	827	29	3	707	3	SPP1	4	88903788	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	9117066	88903788	102250488	35	10973											
ARFIP1	27236	genome.wustl.edu	37	4	153809373	153809373	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr4:153809373C>G	ENST00000451320.2	+	8	1044	c.880C>G	c.(880-882)Cag>Gag	p.Q294E	ARFIP1_ENST00000356064.3_Missense_Mutation_p.Q262E|ARFIP1_ENST00000429148.2_Missense_Mutation_p.Q114E|ARFIP1_ENST00000405727.2_Missense_Mutation_p.Q262E|ARFIP1_ENST00000353617.2_Missense_Mutation_p.Q294E			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	294	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)		p.Q294E(1)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TGAGCAGTCACAGCATCTCTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											121	111	114					4																	153809373		2203	4300	6503	154028823	SO:0001583	missense	27236			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"arfaptin 1"	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.880C>G	4.37:g.153809373C>G	ENSP00000395083:p.Gln294Glu		154028823	Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	ENST00000451320.2	37	CCDS34080.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723568	0.89298	.	.	ENSG00000164144	ENST00000451320;ENST00000429148;ENST00000353617;ENST00000405727;ENST00000356064	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.85	5.85	0.93711	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.88826	0.6542	M	0.68952	2.095	0.80722	D	1	P;P;D	0.61697	0.836;0.473;0.99	P;B;D	0.69824	0.463;0.11;0.966	D	0.86073	0.1539	10	0.33940	T	0.23	-8.7562	20.1731	0.98165	0.0:1.0:0.0:0.0	.	114;262;294	B4DS69;Q2M2X4;P53367	.;.;ARFP1_HUMAN	E	294;114;294;262;262	ENSP00000395083:Q294E;ENSP00000396653:Q114E;ENSP00000296557:Q294E;ENSP00000384189:Q262E;ENSP00000348360:Q262E	ENSP00000296557:Q294E	Q	+	1	0	ARFIP1	154028823	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.768000	0.95171	0.655000	0.94253	CAG		0.368	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		G	153809373	C	G	153809373	3	3	191	1	0	0	0	0	1	0	0	0	854	479	17	3	906	3	ARFIP1	4	153809373	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	64905585	153809373	37344903	36	10974											
PALLD	23022	genome.wustl.edu	37	4	169824955	169824955	+	Silent	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr4:169824955C>T	ENST00000505667.1	+	15	2693	c.2520C>T	c.(2518-2520)caC>caT	p.H840H	PALLD_ENST00000335742.7_Silent_p.H665H|PALLD_ENST00000261509.6_Silent_p.H823H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Silent_p.H441H|PALLD_ENST00000507735.1_Silent_p.H336H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1047	Interaction with ACTN.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.H823H(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGAGTGATCACTACACCATTC	0.413									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											1	Substitution - coding silent(1)	ovary(1)	4											104	100	101					4																	169824955		2203	4300	6503	170061530	SO:0001819	synonymous_variant	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2520C>T	4.37:g.169824955C>T			170061530	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																				0.413	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		T	169824955	C	T	169824955	2	4	191	1	0	0	0	0	0	0	0	1	11407	564	20	2		2	PALLD	4	169824955	Silent	SNP	C	TCGA-23-1124-01A-01W-0488-09	16015582	169824955	21329321	37	10975											
SLC6A3	6531	genome.wustl.edu	37	5	1441479	1441479	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr5:1441479A>C	ENST00000270349.9	-	3	540	c.413T>G	c.(412-414)cTg>cGg	p.L138R	SLC6A3_ENST00000453492.2_Missense_Mutation_p.L138R	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	138					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.L138R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATTACCTTTCAGTATGGGGCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	5											76	69	72					5																	1441479		2203	4300	6503	1494479	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.413T>G	5.37:g.1441479A>C	ENSP00000270349:p.Leu138Arg		1494479	A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748870	0.49257	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.79141	-1.24;-1.24;-1.24	3.45	3.45	0.39498	.	0.141898	0.48286	D	0.000190	D	0.85741	0.5767	M	0.85542	2.76	0.36302	D	0.857084	P	0.46064	0.872	P	0.57620	0.824	D	0.89566	0.3810	10	0.87932	D	0	.	10.1692	0.42900	1.0:0.0:0.0:0.0	.	138	Q01959	SC6A3_HUMAN	R	138;138;64	ENSP00000270349:L138R;ENSP00000399806:L138R;ENSP00000429101:L64R	ENSP00000270349:L138R	L	-	2	0	SLC6A3	1494479	1.000000	0.71417	0.669000	0.29828	0.540000	0.34992	8.432000	0.90288	1.331000	0.45412	0.459000	0.35465	CTG		0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		C	1441479	A	C	1441479	3	2	191	1	0	0	0	0	1	0	0	0	14688	188	7	5	1501	5	SLC6A3	5	1441479	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09		1441479	179473781	38	10976											
MGC42105	167359	genome.wustl.edu	37	5	43280531	43280531	+	Silent	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr5:43280531C>T	ENST00000512796.1	+	4	2510	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	NIM1_ENST00000326035.2_Silent_p.F337F			Q8IY84	NIM1_HUMAN		337					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.F337F(1)									TGGAACCTTTCCAACTGGATC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	5											100	96	98					5																	43280531		2203	4300	6503	43316288	SO:0001819	synonymous_variant	167359																														ENST00000512796.1:c.1011C>T	5.37:g.43280531C>T			43316288	B3KVM1	Silent	SNP	ENST00000512796.1	37	CCDS3943.1																																																																																				0.463	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			T	43280531	C	T	43280531	2	4	191	1	0	0	0	0	0	0	0	1	9552	854	30	2		2	MGC42105	5	43280531	Silent	SNP	C	TCGA-23-1124-01A-01W-0488-09	41839052	43280531	137634729	39	10977											
ADAMTS6	11174	genome.wustl.edu	37	5	64510687	64510687	+	IGR	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr5:64510687C>G								ADAMTS6 (16095 upstream) : ADAMTS6 (82347 downstream)														p.D837H(1)									ACTTCATTATCTCCACTGCCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	5											155	134	141					5																	64510687		2203	4300	6503	64546443	SO:0001628	intergenic_variant	11174																															5.37:g.64510687C>G			64546443		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	C	17.37	3.371278	0.61624	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.59502	0.26;0.38	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	L	0.60957	1.885	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.63597	0.916;0.916	T	0.73014	-0.4116	10	0.59425	D	0.04	.	20.0022	0.97423	0.0:1.0:0.0:0.0	.	837;837	D6R9L6;Q9UKP5	.;ATS6_HUMAN	H	837;787;837	ENSP00000370443:D837H;ENSP00000423551:D837H	ENSP00000261306:D787H	D	-	1	0	ADAMTS6	64546443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.738000	0.93877	0.655000	0.94253	GAT	0	0.468									G	64510687	C	G	64510687	1	3	191	0	1	0	0	0	0	0	0	0	270	913	32	3		3	ADAMTS6	5	64510687	IGR	SNP	C	TCGA-23-1124-01A-01W-0488-09	21230156	64510687	116404573	40	10978											
BHMT	635	genome.wustl.edu	37	5	78423785	78423785	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr5:78423785C>G	ENST00000274353.5	+	7	1123	c.1016C>G	c.(1015-1017)aCc>aGc	p.T339S	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.T186S	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	339					amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.T339S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GACATGCACACCAAACCCTGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											32	33	33					5																	78423785		2203	4300	6503	78459541	SO:0001583	missense	635			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.1016C>G	5.37:g.78423785C>G	ENSP00000274353:p.Thr339Ser		78459541	Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	CCDS4046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.53|18.53	3.643092|3.643092	0.67244|0.67244	.|.	.|.	ENSG00000145692|ENSG00000145692	ENST00000436224|ENST00000274353;ENST00000524080	.|T;T	.|0.30182	.|1.54;1.54	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Homocysteine S-methyltransferase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49949|0.49949	0.1587|0.1587	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	.|P;B	.|0.38642	.|0.641;0.005	.|P;B	.|0.45712	.|0.491;0.015	T|T	0.50242|0.50242	-0.8851|-0.8851	6|10	0.87932|0.33141	D|T	0|0.24	-22.1978|-22.1978	19.2188|19.2188	0.93788|0.93788	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|186;339	.|E5RJH0;Q93088	.|.;BHMT1_HUMAN	A|S	186|339;186	.|ENSP00000274353:T339S;ENSP00000428240:T186S	ENSP00000405681:P186A|ENSP00000274353:T339S	P|T	+|+	1|2	0|0	BHMT|BHMT	78459541|78459541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.610000|7.610000	0.82949|0.82949	2.607000|2.607000	0.88179|0.88179	0.650000|0.650000	0.86243|0.86243	CCA|ACC		0.458	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		G	78423785	C	G	78423785	3	3	191	1	0	0	0	0	1	0	0	0	1425	507	18	3	1042	3	BHMT	5	78423785	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	13913098	78423785	102491475	41	10979											
GPR98	84059	genome.wustl.edu	37	5	89989844	89989844	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr5:89989844G>A	ENST00000405460.2	+	33	7367	c.7271G>A	c.(7270-7272)aGa>aAa	p.R2424K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2424					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R2424K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCACTTTGGAGAACTTGGATG	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											80	78	78					5																	89989844		1909	4116	6025	90025600	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7271G>A	5.37:g.89989844G>A	ENSP00000384582:p.Arg2424Lys		90025600	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	5.447	0.267493	0.10294	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.25749	1.78	5.92	5.92	0.95590	.	0.251771	0.44285	D	0.000467	T	0.17450	0.0419	L	0.38838	1.175	0.58432	D	0.999999	B;B	0.30605	0.287;0.156	B;B	0.28709	0.093;0.067	T	0.09618	-1.0666	10	0.31617	T	0.26	.	5.6778	0.17759	0.1467:0.0:0.6822:0.1711	.	2424;2424	E7ETI5;Q8WXG9	.;GPR98_HUMAN	K	2424	ENSP00000384582:R2424K	ENSP00000296619:R2424K	R	+	2	0	GPR98	90025600	1.000000	0.71417	0.983000	0.44433	0.010000	0.07245	2.212000	0.42835	2.795000	0.96236	0.655000	0.94253	AGA		0.483	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89989844	G	A	89989844	3	1	191	1	0	0	0	0	1	0	0	0	6721	942	33	2	7401	2	GPR98	5	89989844	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	11566059	89989844	90925416	42	10980											
LECT2	3950	genome.wustl.edu	37	5	135286975	135286975	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr5:135286975C>G	ENST00000274507.1	-	3	426	c.226G>C	c.(226-228)Ggc>Cgc	p.G76R	LECT2_ENST00000522943.1_Missense_Mutation_p.G76R|LECT2_ENST00000514447.2_Missense_Mutation_p.G76R|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_Missense_Mutation_p.G4R|LECT2_ENST00000471827.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	76					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.G76R(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCTCCTGGCCCACAATCATT	0.468																																																1	Substitution - Missense(1)	ovary(1)	5											139	128	131					5																	135286975		2203	4300	6503	135314874	SO:0001583	missense	3950			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.226G>C	5.37:g.135286975C>G	ENSP00000274507:p.Gly76Arg		135314874	B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000274507.1	37	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353978	0.24512	.	.	ENSG00000145826	ENST00000522943;ENST00000274507;ENST00000512872;ENST00000514447	T;T;T;T	0.40225	3.03;1.04;3.03;3.03	5.86	3.0	0.34707	Peptidase M23 (1);	0.197223	0.53938	D	0.000049	T	0.26629	0.0651	L	0.35542	1.07	0.44345	D	0.997234	B	0.12013	0.005	B	0.17098	0.017	T	0.05225	-1.0898	10	0.13470	T	0.59	-3.9485	7.7341	0.28804	0.0:0.6922:0.1486:0.1592	.	76	O14960	LECT2_HUMAN	R	76;76;4;76	ENSP00000429618:G76R;ENSP00000274507:G76R;ENSP00000427012:G4R;ENSP00000421123:G76R	ENSP00000274507:G76R	G	-	1	0	LECT2	135314874	0.141000	0.22595	0.994000	0.49952	0.507000	0.33981	0.721000	0.25911	1.498000	0.48600	-0.142000	0.14014	GGC		0.468	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		G	135286975	C	G	135286975	3	3	191	1	0	0	0	0	1	0	0	0	8713	623	22	3	237	3	LECT2	5	135286975	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	45297131	135286975	45628285	43	10981											
PCDHGA1	56114	genome.wustl.edu	37	5	140712162	140712162	+	Silent	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr5:140712162G>A	ENST00000517417.1	+	1	1911	c.1911G>A	c.(1909-1911)gcG>gcA	p.A637A	PCDHGA1_ENST00000378105.3_Silent_p.A637A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A637A(1)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.697																																																1	Substitution - coding silent(1)	ovary(1)	5											38	43	41					5																	140712162		2200	4297	6497	140692346	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1911G>A	5.37:g.140712162G>A			140692346	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		A	140712162	G	A	140712162	2	1	191	1	0	0	0	0	0	0	0	1	11550	1074	38	1		1	PCDHGA1	5	140712162	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	5425187	140712162	40203098	44	10982											
WWC1	23286	genome.wustl.edu	37	5	167894880	167894880	+	Silent	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr5:167894880G>A	ENST00000265293.4	+	22	3688	c.3186G>A	c.(3184-3186)caG>caA	p.Q1062Q	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.Q1068Q	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1062	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.Q1062Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTGAGCTTCAGACAGACAAGA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	5											76	73	74					5																	167894880		2203	4300	6503	167827458	SO:0001819	synonymous_variant	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3186G>A	5.37:g.167894880G>A			167827458	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975195	0.18736	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.29	4.41	0.53225	.	.	.	.	.	T	0.62258	0.2413	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60063	-0.7336	4	.	.	.	.	10.8617	0.46831	0.1537:0.0:0.8463:0.0	.	.	.	.	N	1029;838	.	.	D	+	1	0	WWC1	167827458	0.999000	0.42202	0.642000	0.29436	0.969000	0.65631	0.469000	0.22067	1.203000	0.43233	0.591000	0.81541	GAC		0.582	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		A	167894880	G	A	167894880	2	1	191	1	0	0	0	0	0	0	0	1	17411	933	33	2		2	WWC1	5	167894880	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	27182718	167894880	13020380	45	10983											
MGAT1	4245	genome.wustl.edu	37	5	180219413	180219413	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr5:180219413G>A	ENST00000446023.2	-	3	1309	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	MGAT1_ENST00000333055.3_Missense_Mutation_p.R187C|MGAT1_ENST00000427865.2_Missense_Mutation_p.R187C|MGAT1_ENST00000393340.3_Missense_Mutation_p.R187C|MGAT1_ENST00000307826.4_Missense_Mutation_p.R187C	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	187					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)	p.R187C(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTAGTGGCGCGCGATCTTG	0.682																																																1	Substitution - Missense(1)	ovary(1)	5											40	46	44					5																	180219413		2201	4296	6497	180152019	SO:0001583	missense	4245			M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.559C>T	5.37:g.180219413G>A	ENSP00000404718:p.Arg187Cys		180152019	A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859990	0.51482	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000427865;ENST00000504671	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.09	-0.559	0.11792	.	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	M	0.88241	2.94	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.91893	0.5525	10	0.87932	D	0	-28.1319	9.0051	0.36106	0.0757:0.0:0.4613:0.463	.	187	P26572	MGAT1_HUMAN	C	187	ENSP00000332073:R187C;ENSP00000311888:R187C;ENSP00000404718:R187C;ENSP00000377010:R187C;ENSP00000402838:R187C;ENSP00000424891:R187C	ENSP00000311888:R187C	R	-	1	0	MGAT1	180152019	0.522000	0.26266	0.080000	0.20451	0.851000	0.48451	0.748000	0.26305	-0.004000	0.14419	0.655000	0.94253	CGC		0.682	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		A	180219413	G	A	180219413	3	1	191	1	0	0	0	0	1	0	0	0	9542	1087	38	1	782	1	MGAT1	5	180219413	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	12324533	180219413	695847	46	10984											
ERVFRDE1	405754	genome.wustl.edu	37	6	11104776	11104776	+	Silent	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr6:11104776G>C	ENST00000472091.1	-	2	1143	c.768C>G	c.(766-768)gtC>gtG	p.V256V	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Silent_p.V256V	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	256					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.V256V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						tgcctgctaagacttggacgc	0.453																																																1	Substitution - coding silent(1)	ovary(1)	6											28	26	27					6																	11104776		2195	4279	6474	11212762	SO:0001819	synonymous_variant	405754			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.768C>G	6.37:g.11104776G>C			11212762		Silent	SNP	ENST00000472091.1	37	CCDS4519.1																																																																																				0.453	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		C	11104776	G	C	11104776	2	2	191	1	0	0	0	0	0	0	0	1	5246	929	33	3		3	ERVFRDE1	6	11104776	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09		11104776	160010291	47	10985											
RXRB	6257	genome.wustl.edu	37	6	33165605	33165605	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr6:33165605G>A	ENST00000374680.3	-	4	965	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000413614.2_Missense_Mutation_p.R156C|SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000374685.4_Missense_Mutation_p.R252C|RXRB_ENST00000544186.1_Missense_Mutation_p.R62C	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	252					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R252C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TTCCGCTGGCGCTTGTCCACT	0.572																																																1	Substitution - Missense(1)	ovary(1)	6											79	66	71					6																	33165605		1511	2709	4220	33273583	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.754C>T	6.37:g.33165605G>A	ENSP00000363812:p.Arg252Cys		33273583	P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775024	0.70107	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	4.52	3.65	0.41850	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.116095	0.56097	D	0.000030	D	0.98232	0.9415	H	0.94345	3.525	0.54753	D	0.999988	D;D;D;D;D;D;D;D	0.89917	0.987;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D	0.91635	0.705;0.997;0.996;0.994;0.999;0.999;0.999;0.999	D	0.98154	1.0443	10	0.87932	D	0	.	5.7085	0.17921	0.099:0.0:0.708:0.193	.	156;252;135;62;252;252;292;252	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	C	252;252;62;156	ENSP00000363817:R252C;ENSP00000363812:R252C;ENSP00000439222:R62C;ENSP00000415561:R156C	ENSP00000363812:R252C	R	-	1	0	RXRB	33273583	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.230000	0.58632	1.263000	0.44181	0.448000	0.29417	CGC		0.572	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		A	33165605	G	A	33165605	3	1	191	1	0	0	0	0	1	0	0	0	13767	1087	38	1	875	1	RXRB	6	33165605	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	22060829	33165605	137949462	48	10986											
TRERF1	55809	genome.wustl.edu	37	6	42196193	42196193	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr6:42196193C>T	ENST00000372922.4	-	18	4055	c.3493G>A	c.(3493-3495)Gac>Aac	p.D1165N	TRERF1_ENST00000541110.1_Missense_Mutation_p.D1185N|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1094N|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1082N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1094N	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1165	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D1165N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGACGACGTCGTCGTCGAGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											148	140	143					6																	42196193		2203	4300	6503	42304171	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3493G>A	6.37:g.42196193C>T	ENSP00000362013:p.Asp1165Asn		42304171	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576165	0.86645	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.20738	2.05;2.28;2.33;2.28;2.3	5.78	5.78	0.91487	.	0.190268	0.36374	N	0.002627	T	0.28732	0.0712	L	0.27053	0.805	0.46298	D	0.998976	D;P;P;D;D	0.89917	0.966;0.943;0.943;0.966;1.0	B;B;B;B;D	0.79108	0.418;0.238;0.238;0.418;0.992	T	0.08554	-1.0716	10	0.87932	D	0	-11.1455	19.9976	0.97389	0.0:1.0:0.0:0.0	.	1082;1185;1165;921;933	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	N	1185;1094;1165;1094;1082	ENSP00000439689:D1185N;ENSP00000362008:D1094N;ENSP00000362013:D1165N;ENSP00000339438:D1094N;ENSP00000346285:D1082N	ENSP00000339438:D1094N	D	-	1	0	TRERF1	42304171	0.999000	0.42202	0.034000	0.17996	0.612000	0.37316	5.338000	0.65947	2.737000	0.93849	0.563000	0.77884	GAC		0.582	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		T	42196193	C	T	42196193	3	4	191	1	0	0	0	0	1	0	0	0	16475	884	31	1	113	1	TRERF1	6	42196193	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	9030588	42196193	128918874	49	10987	20	2									
TRERF1	55809	genome.wustl.edu	37	6	42196196	42196196	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr6:42196196C>T	ENST00000372922.4	-	18	4052	c.3490G>A	c.(3490-3492)Gac>Aac	p.D1164N	TRERF1_ENST00000541110.1_Missense_Mutation_p.D1184N|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1093N|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1081N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1093N	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1164	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D1164N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACGACGTCGTCGTCGAGGATG	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											150	143	145					6																	42196196		2203	4300	6503	42304174	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3490G>A	6.37:g.42196196C>T	ENSP00000362013:p.Asp1164Asn		42304174	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803405	0.50315	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12879	2.82;2.64;2.84;2.64;2.64	5.78	4.89	0.63831	.	0.529823	0.18083	N	0.152222	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B;B;B;B;P	0.51791	0.013;0.007;0.007;0.013;0.948	B;B;B;B;B	0.42771	0.003;0.001;0.001;0.003;0.397	T	0.28138	-1.0053	10	0.37606	T	0.19	-4.353	7.4591	0.27285	0.0:0.7183:0.1413:0.1405	.	1081;1184;1164;920;932	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	N	1184;1093;1164;1093;1081	ENSP00000439689:D1184N;ENSP00000362008:D1093N;ENSP00000362013:D1164N;ENSP00000339438:D1093N;ENSP00000346285:D1081N	ENSP00000339438:D1093N	D	-	1	0	TRERF1	42304174	0.038000	0.19896	0.003000	0.11579	0.602000	0.36980	2.109000	0.41863	1.411000	0.46957	0.563000	0.77884	GAC		0.577	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		T	42196196	C	T	42196196	3	4	191	1	0	0	0	0	1	0	0	0	16475	884	31	1	116	1	TRERF1	6	42196196	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	3	42196196	128918871	50	10988	20	2									
LRRC1	55227	genome.wustl.edu	37	6	53743857	53743857	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr6:53743857A>T	ENST00000370888.1	+	3	621	c.344A>T	c.(343-345)aAc>aTc	p.N115I	LRRC1_ENST00000370882.1_Missense_Mutation_p.N115I	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	115						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.N115I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TTCAGCGGAAACCCACTGACT	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											65	55	58					6																	53743857		2203	4300	6503	53851816	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.344A>T	6.37:g.53743857A>T	ENSP00000359925:p.Asn115Ile		53851816	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255477	0.59321	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.67865	2.91;-0.29	5.06	5.06	0.68205	.	0.048115	0.85682	D	0.000000	T	0.74458	0.3719	H	0.96208	3.785	0.80722	D	1	P	0.40050	0.7	B	0.43575	0.424	T	0.82723	-0.0316	10	0.87932	D	0	.	13.0893	0.59158	1.0:0.0:0.0:0.0	.	115	Q9BTT6	LRRC1_HUMAN	I	115	ENSP00000359925:N115I;ENSP00000359919:N115I	ENSP00000359919:N115I	N	+	2	0	LRRC1	53851816	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.811000	0.86092	2.256000	0.74724	0.533000	0.62120	AAC		0.408	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		T	53743857	A	T	53743857	3	4	191	1	0	0	0	0	1	0	0	0	8966	43	2	5	354	5	LRRC1	6	53743857	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	11547661	53743857	117371210	51	10989											
AKD1	221264	genome.wustl.edu	37	6	109854526	109854526	+	Silent	SNP	T	T	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr6:109854526T>C	ENST00000424296.2	-	28	3574	c.3498A>G	c.(3496-3498)gaA>gaG	p.E1166E	AK9_ENST00000341338.6_Silent_p.E245E|AK9_ENST00000355283.1_Silent_p.E245E	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1166	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.E245E(1)									GTTTCCACTTTTCAATTTGGG	0.358																																																1	Substitution - coding silent(1)	ovary(1)	6											169	151	157					6																	109854526		2203	4300	6503	109961219	SO:0001819	synonymous_variant	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3498A>G	6.37:g.109854526T>C			109961219	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	T	8.653	0.898716	0.17686	.	.	ENSG00000155085	ENST00000470564;ENST00000491875	.	.	.	5.16	-0.0333	0.13901	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.22941	-1.0202	4	.	.	.	.	4.5933	0.12317	0.1325:0.2279:0.0:0.6396	.	.	.	.	R	4;101	.	.	K	-	2	0	AKD1	109961219	0.456000	0.25744	0.472000	0.27241	0.889000	0.51656	0.241000	0.18065	0.047000	0.15862	0.448000	0.29417	AAA		0.358	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		C	109854526	T	C	109854526	2	2	191	1	0	0	0	0	0	0	0	1	460	1838	64	4		4	AKD1	6	109854526	Silent	SNP	T	TCGA-23-1124-01A-01W-0488-09	56110669	109854526	61260541	52	10990											
ENPP1	5167	genome.wustl.edu	37	6	132211589	132211589	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr6:132211589G>C	ENST00000360971.2	+	25	2736	c.2716G>C	c.(2716-2718)Gag>Cag	p.E906Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	906	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|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)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.E854Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ACAAAGAAAAGAGCCAGTTTC	0.388																																					Colon(104;336 1535 5856 11019 33782)											1	Substitution - Missense(1)	ovary(1)	6											107	100	103					6																	132211589		2203	4300	6503	132253282	SO:0001583	missense	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2716G>C	6.37:g.132211589G>C	ENSP00000354238:p.Glu906Gln		132253282	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	8.740	0.918718	0.17982	.	.	ENSG00000197594	ENST00000360971	T	0.70986	-0.53	5.82	4.93	0.64822	Extracellular Endonuclease, subunit A (2);	0.407179	0.26457	N	0.024269	T	0.38134	0.1029	L	0.41027	1.25	0.30844	N	0.735381	B	0.15141	0.012	B	0.18871	0.023	T	0.13124	-1.0521	10	0.11485	T	0.65	-14.9932	10.4224	0.44359	0.0:0.3282:0.5419:0.1299	.	906	P22413	ENPP1_HUMAN	Q	906	ENSP00000354238:E906Q	ENSP00000354238:E906Q	E	+	1	0	ENPP1	132253282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.001000	0.40825	1.424000	0.47217	0.650000	0.86243	GAG		0.388	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			C	132211589	G	C	132211589	3	2	191	1	0	0	0	0	1	0	0	0	5129	943	33	3	2814	3	ENPP1	6	132211589	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	22357063	132211589	38903478	53	10991											
GPR146	115330	genome.wustl.edu	37	7	1097891	1097891	+	Missense_Mutation	SNP	C	C	G	rs144581322		TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:1097891C>G	ENST00000397095.1	+	2	963	c.740C>G	c.(739-741)aCg>aGg	p.T247R	C7orf50_ENST00000397100.2_Intron|GPR146_ENST00000297468.3_Missense_Mutation_p.T247R|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|RP11-449P15.1_ENST00000549241.1_RNA			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T247R(1)		autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGCTCTGGACGCCACACTAT	0.652																																																1	Substitution - Missense(1)	ovary(1)	7											54	44	48					7																	1097891		2202	4298	6500	1064417	SO:0001583	missense	115330			BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.740C>G	7.37:g.1097891C>G	ENSP00000380283:p.Thr247Arg		1064417	Q86SP5	Missense_Mutation	SNP	ENST00000397095.1	37	CCDS5321.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784344	0.70222	.	.	ENSG00000164849	ENST00000444847;ENST00000397095;ENST00000500070;ENST00000297468	T;T;T	0.73258	-0.73;-0.73;-0.73	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.80681	-0.1274	10	0.87932	D	0	-30.3921	17.5152	0.87771	0.0:1.0:0.0:0.0	.	247	Q96CH1	GP146_HUMAN	R	247;247;165;247	ENSP00000410743:T247R;ENSP00000380283:T247R;ENSP00000297468:T247R	ENSP00000297468:T247R	T	+	2	0	GPR146	1064417	1.000000	0.71417	0.970000	0.41538	0.300000	0.27592	7.217000	0.77982	2.389000	0.81357	0.561000	0.74099	ACG		0.652	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445		G	1097891	C	G	1097891	3	3	191	1	0	0	0	0	1	0	0	0	6652	536	19	3	742	3	GPR146	7	1097891	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09		1097891	158040772	54	10992											
DGKB	1607	genome.wustl.edu	37	7	14733771	14733771	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:14733771C>T	ENST00000403951.2	-	9	1059	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	DGKB_ENST00000444700.2_Missense_Mutation_p.V207M|DGKB_ENST00000402815.1_Missense_Mutation_p.V214M|DGKB_ENST00000258767.5_Missense_Mutation_p.V214M|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.V214M|DGKB_ENST00000399322.3_Missense_Mutation_p.V214M|DGKB_ENST00000407950.1_Missense_Mutation_p.V207M			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	214	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.V214M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TCCAGAGACACGGTTCCATCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	7											77	73	74					7																	14733771		1940	4153	6093	14700296	SO:0001583	missense	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.640G>A	7.37:g.14733771C>T	ENSP00000385780:p.Val214Met		14700296	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096299	0.94197	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.72	5.72	0.89469	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89487	0.6729	M	0.90252	3.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.997	D	0.90880	0.4753	10	0.87932	D	0	.	19.8709	0.96851	0.0:1.0:0.0:0.0	.	214;207;214;214	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	M	214;214;214;214;207;207;214	ENSP00000385780:V214M;ENSP00000382260:V214M;ENSP00000258767:V214M;ENSP00000384909:V214M;ENSP00000385031:V207M;ENSP00000388451:V207M;ENSP00000386066:V214M	ENSP00000258767:V214M	V	-	1	0	DGKB	14700296	1.000000	0.71417	0.919000	0.36401	0.867000	0.49689	7.818000	0.86416	2.698000	0.92095	0.591000	0.81541	GTG		0.423	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		T	14733771	C	T	14733771	3	4	191	1	0	0	0	0	1	0	0	0	4466	536	19	1	1861	1	DGKB	7	14733771	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	13635880	14733771	144404892	55	10993											
POLM	27434	genome.wustl.edu	37	7	44120512	44120512	+	Silent	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:44120512G>A	ENST00000242248.5	-	2	293	c.192C>T	c.(190-192)tcC>tcT	p.S64S	POLM_ENST00000335195.6_Silent_p.S64S|POLM_ENST00000395831.3_Silent_p.S64S	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	64	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.S64S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GTGTCGCTTCGGAGCTGGTGG	0.637								DNA polymerases (catalytic subunits)																																								1	Substitution - coding silent(1)	ovary(1)	7											56	56	56					7																	44120512		2203	4300	6503	44087037	SO:0001819	synonymous_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.192C>T	7.37:g.44120512G>A			44087037	D3DVK4|Q6P5X8|Q86WQ9	Silent	SNP	ENST00000242248.5	37	CCDS34625.1																																																																																				0.637	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		A	44120512	G	A	44120512	2	1	191	1	0	0	0	0	0	0	0	1	12206	1103	39	1		1	POLM	7	44120512	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	29386741	44120512	115018151	56	10994											
TNS3	64759	genome.wustl.edu	37	7	47440385	47440385	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:47440385T>G	ENST00000398879.1	-	14	1216	c.850A>C	c.(850-852)Aaa>Caa	p.K284Q	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.K284Q			Q68CZ2	TENS3_HUMAN	tensin 3	284	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.K284Q(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCCTCACCTTTGCTGGCATTG	0.577																																																1	Substitution - Missense(1)	ovary(1)	7											72	89	84					7																	47440385		2075	4206	6281	47406910	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.850A>C	7.37:g.47440385T>G	ENSP00000381854:p.Lys284Gln		47406910	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	14.63	2.593495	0.46214	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.99	2.47	0.30058	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.365437	0.28409	N	0.015457	D	0.84451	0.5475	M	0.70842	2.15	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.72161	-0.4374	10	0.17832	T	0.49	.	6.2934	0.21073	0.0:0.0886:0.2018:0.7095	.	284	Q68CZ2	TENS3_HUMAN	Q	284;394;284;387;373	ENSP00000312143:K284Q;ENSP00000381854:K284Q;ENSP00000414358:K387Q;ENSP00000396914:K373Q	ENSP00000312143:K284Q	K	-	1	0	TNS3	47406910	1.000000	0.71417	0.396000	0.26296	0.953000	0.61014	2.485000	0.45250	0.195000	0.20347	0.374000	0.22700	AAA		0.577	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		G	47440385	T	G	47440385	3	3	191	1	0	0	0	0	1	0	0	0	16344	1821	63	5	3559	5	TNS3	7	47440385	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	3319873	47440385	111698278	57	10995											
GTF2IRD2	84163	genome.wustl.edu	37	7	74211464	74211464	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:74211464G>C	ENST00000405086.2	-	16	2576	c.2387C>G	c.(2386-2388)aCt>aGt	p.T796S	GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.T343S	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	796					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T796S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						cgtcaaatgagtctcccagag	0.498																																					NSCLC(40;560 1096 7501 40315 49546)											1	Substitution - Missense(1)	ovary(1)	7											56	60	58					7																	74211464		2193	4286	6479	73849400	SO:0001583	missense	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.2387C>G	7.37:g.74211464G>C	ENSP00000385491:p.Thr796Ser		73849400	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Missense_Mutation	SNP	ENST00000405086.2	37	CCDS5576.1	.	.	.	.	.	.	.	.	.	.	g	10.38	1.334383	0.24253	.	.	ENSG00000196275	ENST00000405086;ENST00000451013	T;T	0.44881	0.91;0.91	1.74	1.74	0.24563	Ribonuclease H-like (1);	.	.	.	.	T	0.31167	0.0788	N	0.04018	-0.295	0.58432	D	0.999999	D	0.63880	0.993	D	0.65443	0.935	T	0.06463	-1.0825	9	0.13108	T	0.6	-11.6005	7.1297	0.25493	0.0:0.0:1.0:0.0	.	796	Q86UP8	GTD2A_HUMAN	S	796;343	ENSP00000385491:T796S;ENSP00000406723:T343S	ENSP00000385491:T796S	T	-	2	0	GTF2IRD2	73849400	0.961000	0.32948	0.711000	0.30485	0.898000	0.52572	2.258000	0.43249	1.317000	0.45149	0.442000	0.29010	ACT		0.498	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		C	74211464	G	C	74211464	3	2	191	1	0	0	0	0	1	0	0	0	6869	1029	36	3	466	3	GTF2IRD2	7	74211464	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	26771079	74211464	84927199	58	10996											
AKAP9	10142	genome.wustl.edu	37	7	91641910	91641910	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:91641910G>C	ENST00000359028.2	+	10	3747	c.3522G>C	c.(3520-3522)caG>caC	p.Q1174H	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q1162H|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q1174H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1174					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.Q1174H(2)|p.Q1162H(2)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAACTTCAGAAAATACACC	0.328			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	4	Substitution - Missense(4)	ovary(2)|lung(2)	7											76	79	78					7																	91641910		2203	4300	6503	91479846	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3522G>C	7.37:g.91641910G>C	ENSP00000351922:p.Gln1174His		91479846	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	7.797	0.712845	0.15306	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03496	3.91;3.91;3.91	4.66	2.74	0.32292	.	0.717110	0.11507	N	0.557096	T	0.02193	0.0068	N	0.15975	0.35	0.22940	N	0.99854	B;B;B;B	0.12630	0.001;0.002;0.006;0.003	B;B;B;B	0.09377	0.002;0.004;0.003;0.004	T	0.48811	-0.9002	10	0.22109	T	0.4	.	3.5746	0.07930	0.0867:0.1407:0.4656:0.307	.	1174;1162;1162;1174	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	H	1162;1174;1174;1174;1174	ENSP00000348573:Q1162H;ENSP00000351922:Q1174H;ENSP00000350813:Q1174H	ENSP00000348573:Q1162H	Q	+	3	2	AKAP9	91479846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.878000	0.28126	0.598000	0.29829	0.655000	0.94253	CAG		0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		C	91641910	G	C	91641910	3	2	191	1	0	0	0	0	1	0	0	0	459	933	33	3	3520	3	AKAP9	7	91641910	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	17430446	91641910	67496753	59	10997											
DYNC1I1	1780	genome.wustl.edu	37	7	95705504	95705504	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:95705504A>C	ENST00000324972.6	+	15	1889	c.1696A>C	c.(1696-1698)Acc>Ccc	p.T566P	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T549P|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T546P|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T529P|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T549P|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T529P	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	566					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.T566P(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAACAATGACACCGAGGTGAG	0.632											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	7											50	48	49					7																	95705504		2203	4300	6503	95543440	SO:0001583	missense	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1696A>C	7.37:g.95705504A>C	ENSP00000320130:p.Thr566Pro	1315	95543440	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.901987	0.72754	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23	4.28	4.28	0.50868	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047299	0.85682	D	0.000000	T	0.17492	0.0420	M	0.87827	2.91	0.80722	D	1	P;P;P;B;P	0.40553	0.6;0.721;0.721;0.225;0.525	B;B;B;B;B	0.40038	0.168;0.317;0.317;0.127;0.251	T	0.04650	-1.0936	10	0.62326	D	0.03	-9.5149	13.5646	0.61810	1.0:0.0:0.0:0.0	.	549;546;549;566;529	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	P	549;566;529;546;529;549	ENSP00000392337:T549P;ENSP00000320130:T566P;ENSP00000438377:T529P;ENSP00000398118:T546P;ENSP00000352348:T529P;ENSP00000412444:T549P	ENSP00000320130:T566P	T	+	1	0	DYNC1I1	95543440	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.945000	0.92985	1.938000	0.56188	0.260000	0.18958	ACC		0.632	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		C	95705504	A	C	95705504	3	2	191	1	0	0	0	0	1	0	0	0	4842	159	6	5	1750	5	DYNC1I1	7	95705504	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	4063594	95705504	63433159	60	10998											
JHDM1D	80853	genome.wustl.edu	37	7	139796808	139796808	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:139796808C>T	ENST00000397560.2	-	16	2153	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	JHDM1D_ENST00000006967.5_Missense_Mutation_p.D686N|Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		686					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.D686N(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTCTTTTCATCACCTGAACTT	0.353																																																1	Substitution - Missense(1)	ovary(1)	7											106	90	95					7																	139796808		1834	4091	5925	139443277	SO:0001583	missense	80853																														ENST00000397560.2:c.2056G>A	7.37:g.139796808C>T	ENSP00000380692:p.Asp686Asn		139443277	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389048	0.82902	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.18810	2.39;2.19	5.54	5.54	0.83059	.	0.172390	0.50627	D	0.000103	T	0.42177	0.1191	M	0.62723	1.935	0.49130	D	0.999753	D	0.76494	0.999	D	0.64144	0.922	T	0.06303	-1.0834	10	0.19590	T	0.45	-20.1209	19.4865	0.95030	0.0:1.0:0.0:0.0	.	686	Q6ZMT4	KDM7_HUMAN	N	686	ENSP00000380692:D686N;ENSP00000006967:D686N	ENSP00000006967:D686N	D	-	1	0	JHDM1D	139443277	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.114000	0.64648	2.585000	0.87301	0.563000	0.77884	GAT		0.353	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			T	139796808	C	T	139796808	3	4	191	1	0	0	0	0	1	0	0	0	7948	826	29	2	789	2	JHDM1D	7	139796808	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	44091304	139796808	19341855	61	10999											
MKRN1	23608	genome.wustl.edu	37	7	140154928	140154928	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:140154928C>G	ENST00000255977.2	-	7	1427	c.1203G>C	c.(1201-1203)caG>caC	p.Q401H	MKRN1_ENST00000437223.2_Missense_Mutation_p.Q135H|MKRN1_ENST00000474576.1_Missense_Mutation_p.Q337H	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	401					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q401H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTTTCTGTCTCTGTGGCTCCT	0.483																																																1	Substitution - Missense(1)	ovary(1)	7											143	140	141					7																	140154928		2203	4300	6503	139801397	SO:0001583	missense	23608			AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1203G>C	7.37:g.140154928C>G	ENSP00000255977:p.Gln401His		139801397	A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	CCDS5860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.312034|3.312034	0.60414|0.60414	.|.	.|.	ENSG00000133606|ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576|ENST00000463142	T;T;T|.	0.40756|.	1.02;1.47;1.02|.	5.0|5.0	4.12|4.12	0.48240|0.48240	.|.	0.065987|.	0.64402|.	D|.	0.000009|.	T|T	0.66046|0.66046	0.2750|0.2750	M|M	0.67397|0.67397	2.05|2.05	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	T|T	0.68735|0.68735	-0.5330|-0.5330	10|6	0.40728|0.72032	T|D	0.16|0.01	.|.	10.2532|10.2532	0.43381|0.43381	0.0:0.8283:0.0:0.1717|0.0:0.8283:0.0:0.1717	.|.	401|.	Q9UHC7|.	MKRN1_HUMAN|.	H|T	401;337;135;337|54	ENSP00000255977:Q401H;ENSP00000439823:Q135H;ENSP00000417863:Q337H|.	ENSP00000255977:Q401H|ENSP00000417346:R54T	Q|R	-|-	3|2	2|0	MKRN1|MKRN1	139801397|139801397	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.021000|1.021000	0.30040|0.30040	1.328000|1.328000	0.45358|0.45358	0.650000|0.650000	0.86243|0.86243	CAG|AGA		0.483	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		G	140154928	C	G	140154928	3	3	191	1	0	0	0	0	1	0	0	0	9606	912	32	3	253	3	MKRN1	7	140154928	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	358120	140154928	18983735	62	11000											
HTR5A	3361	genome.wustl.edu	37	7	154876012	154876012	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr7:154876012T>G	ENST00000287907.2	+	2	1465	c.889T>G	c.(889-891)Tgc>Ggc	p.C297G	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	297					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.C297G(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTTCGTGCTCTGCTGGATCCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	7											229	185	200					7																	154876012		2203	4300	6503	154506945	SO:0001583	missense	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.889T>G	7.37:g.154876012T>G	ENSP00000287907:p.Cys297Gly		154506945	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	t	20.9	4.059641	0.76074	.	.	ENSG00000157219	ENST00000287907	T	0.54071	0.59	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90189	0.4248	10	0.87932	D	0	.	14.594	0.68392	0.0:0.0:0.0:1.0	.	297	P47898	5HT5A_HUMAN	G	297	ENSP00000287907:C297G	ENSP00000287907:C297G	C	+	1	0	HTR5A	154506945	1.000000	0.71417	0.993000	0.49108	0.704000	0.40688	7.699000	0.84547	1.845000	0.53610	0.533000	0.62120	TGC		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		G	154876012	T	G	154876012	3	3	191	1	0	0	0	0	1	0	0	0	7450	1580	55	5	895	5	HTR5A	7	154876012	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	14721084	154876012	4262651	63	11001											
PPP3CC	5533	genome.wustl.edu	37	8	22380232	22380232	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr8:22380232C>T	ENST00000240139.5	+	8	1240	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	PPP3CC_ENST00000518852.1_Missense_Mutation_p.P305S|PPP3CC_ENST00000289963.8_Missense_Mutation_p.P305S|PPP3CC_ENST00000397775.3_Missense_Mutation_p.P305S	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	305					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.P305S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTCTCTGCCCCCAATTACCT	0.368																																																1	Substitution - Missense(1)	ovary(1)	8											87	87	87					8																	22380232		2203	4300	6503	22436177	SO:0001583	missense	5533				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.913C>T	8.37:g.22380232C>T	ENSP00000240139:p.Pro305Ser		22436177	B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	CCDS34859.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024705	0.75390	.	.	ENSG00000120910	ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13	5.53	4.64	0.57946	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.993;0.985;0.963	T	0.10520	-1.0626	10	0.87932	D	0	-12.2268	14.5757	0.68246	0.1477:0.8523:0.0:0.0	.	305;305;305;305	B4DRT5;P48454-2;P48454;G3V111	.;.;PP2BC_HUMAN;.	S	305;305;305;305;131	ENSP00000429379:P305S;ENSP00000240139:P305S;ENSP00000289963:P305S;ENSP00000380878:P305S;ENSP00000430555:P131S	ENSP00000240139:P305S	P	+	1	0	PPP3CC	22436177	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.776000	0.85560	1.303000	0.44873	0.563000	0.77884	CCC		0.368	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		T	22380232	C	T	22380232	3	4	191	1	0	0	0	0	1	0	0	0	12402	623	22	2	943	2	PPP3CC	8	22380232	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09		22380232	123983790	64	11002											
RBPMS	11030	genome.wustl.edu	37	8	30332300	30332300	+	Silent	SNP	G	G	C	rs368733156		TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr8:30332300G>C	ENST00000320203.4	+	2	654	c.72G>C	c.(70-72)cgG>cgC	p.R24R	RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000538486.1_Silent_p.R24R|RBPMS_ENST00000287771.5_Silent_p.R24R|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000397323.4_Silent_p.R24R|RBPMS_ENST00000339877.4_Silent_p.R24R|RBPMS_ENST00000517860.1_Silent_p.R24R	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	24	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.R24R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCCAGGTCCGGACCCTATTTG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	8											169	177	174					8																	30332300		2203	4300	6503	30451842	SO:0001819	synonymous_variant	11030			D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"RNA binding motif (RRM) containing"	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.72G>C	8.37:g.30332300G>C			30451842	D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	CCDS6077.1																																																																																				0.388	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			C	30332300	G	C	30332300	2	2	191	1	0	0	0	0	0	0	0	1	13166	1161	41	3		3	RBPMS	8	30332300	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	7952068	30332300	116031722	65	11003											
TRIM55	84675	genome.wustl.edu	37	8	67039617	67039617	+	Silent	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr8:67039617G>A	ENST00000315962.4	+	1	487	c.114G>A	c.(112-114)gtG>gtA	p.V38V	TRIM55_ENST00000350034.4_Silent_p.V38V|TRIM55_ENST00000353317.5_Silent_p.V38V|TRIM55_ENST00000276573.7_Silent_p.V38V	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	38					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.V38V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AACCTGTGGTGATTCTCCCTT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	8											233	227	229					8																	67039617		2203	4300	6503	67202171	SO:0001819	synonymous_variant	84675			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.114G>A	8.37:g.67039617G>A			67202171	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	ENST00000315962.4	37	CCDS6184.1																																																																																				0.433	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		A	67039617	G	A	67039617	2	1	191	1	0	0	0	0	0	0	0	1	16529	1277	45	2		2	TRIM55	8	67039617	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	36707317	67039617	79324405	66	11004											
XKR9	389668	genome.wustl.edu	37	8	71646497	71646497	+	Silent	SNP	T	T	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr8:71646497T>C	ENST00000408926.3	+	5	1494	c.960T>C	c.(958-960)ccT>ccC	p.P320P	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Silent_p.P320P	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	320						integral component of membrane (GO:0016021)		p.P320P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ATTTTATACCTATCAGTATAA	0.343																																																1	Substitution - coding silent(1)	ovary(1)	8											73	73	73					8																	71646497		2203	4299	6502	71809051	SO:0001819	synonymous_variant	389668			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.960T>C	8.37:g.71646497T>C			71809051	B2RNS9|B9EH74	Silent	SNP	ENST00000408926.3	37	CCDS34905.1																																																																																				0.343	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		C	71646497	T	C	71646497	2	2	191	1	0	0	0	0	0	0	0	1	17438	1509	53	4		4	XKR9	8	71646497	Silent	SNP	T	TCGA-23-1124-01A-01W-0488-09	4606880	71646497	74717525	67	11005											
NOV	4856	genome.wustl.edu	37	8	120430510	120430510	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr8:120430510C>G	ENST00000259526.3	+	3	750	c.523C>G	c.(523-525)Cca>Gca	p.P175A	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.P175A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GATCTGTGGCCCAGATGAGGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	8											144	134	137					8																	120430510		2203	4300	6503	120499691	SO:0001583	missense	4856			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.523C>G	8.37:g.120430510C>G	ENSP00000259526:p.Pro175Ala		120499691		Missense_Mutation	SNP	ENST00000259526.3	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	C	8.269	0.812940	0.16537	.	.	ENSG00000136999	ENST00000259526	T	0.78126	-1.15	5.51	2.48	0.30137	.	0.411457	0.29246	N	0.012720	T	0.52058	0.1711	N	0.08118	0	0.27704	N	0.945691	B	0.06786	0.001	B	0.06405	0.002	T	0.34179	-0.9839	10	0.29301	T	0.29	-1.7924	4.0268	0.09692	0.0:0.3764:0.1798:0.4438	.	175	P48745	NOV_HUMAN	A	175	ENSP00000259526:P175A	ENSP00000259526:P175A	P	+	1	0	NOV	120499691	0.000000	0.05858	0.766000	0.31476	0.874000	0.50279	-0.065000	0.11617	0.310000	0.22990	0.561000	0.74099	CCA		0.512	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		G	120430510	C	G	120430510	3	3	191	1	0	0	0	0	1	0	0	0	10553	623	22	3	533	3	NOV	8	120430510	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	48784013	120430510	25933512	68	11006											
ZNF16	7564	genome.wustl.edu	37	8	146156539	146156539	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr8:146156539T>C	ENST00000276816.4	-	4	1820	c.1634A>G	c.(1633-1635)tAt>tGt	p.Y545C	ZNF16_ENST00000394909.2_Missense_Mutation_p.Y545C	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	545					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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.Y545C(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AGTACATTCATAGGGCTTCTC	0.522																																																1	Substitution - Missense(1)	ovary(1)	8											92	89	90					8																	146156539		2203	4300	6503	146127343	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1634A>G	8.37:g.146156539T>C	ENSP00000276816:p.Tyr545Cys		146127343	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.382083	0.42207	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.25414	1.8;1.8	4.0	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47451	0.1446	M	0.75777	2.31	0.26016	N	0.981927	D	0.89917	1.0	D	0.78314	0.991	T	0.30937	-0.9961	9	0.87932	D	0	.	7.7616	0.28955	0.187:0.0:0.0:0.813	.	545	P17020	ZNF16_HUMAN	C	545	ENSP00000276816:Y545C;ENSP00000378369:Y545C	ENSP00000276816:Y545C	Y	-	2	0	ZNF16	146127343	0.062000	0.20869	0.999000	0.59377	0.946000	0.59487	0.512000	0.22755	1.673000	0.50895	0.379000	0.24179	TAT		0.522	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		C	146156539	T	C	146156539	3	2	191	1	0	0	0	0	1	0	0	0	17738	1406	49	4	418	4	ZNF16	8	146156539	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	25726029	146156539	207483	69	11007											
C9orf24	84688	genome.wustl.edu	37	9	34382763	34382763	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr9:34382763G>A	ENST00000297623.2	-	3	583	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	C9orf24_ENST00000379124.1_5'Flank|C9orf24_ENST00000379133.3_5'Flank|C9orf24_ENST00000379126.3_5'Flank|C9orf24_ENST00000379127.1_5'Flank|C9orf24_ENST00000481295.1_5'Flank	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	129					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.R129W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TTAGGCAGCCGAGGAAGGTAG	0.522																																																1	Substitution - Missense(1)	ovary(1)	9											236	195	209					9																	34382763		2203	4300	6503	34372763	SO:0001583	missense	84688			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.385C>T	9.37:g.34382763G>A	ENSP00000297623:p.Arg129Trp		34372763	Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Missense_Mutation	SNP	ENST00000297623.2	37	CCDS6554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.97|14.97	2.693848|2.693848	0.48202|0.48202	.|.	.|.	ENSG00000164972|ENSG00000164972	ENST00000297623|ENST00000444429	T|.	0.52754|.	0.65|.	5.69|5.69	3.65|3.65	0.41850|0.41850	.|.	0.676018|.	0.13386|.	N|.	0.391777|.	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	D|.	0.69078|.	0.997|.	P|.	0.50896|.	0.653|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|5	0.72032|.	D|.	0.01|.	-3.2259|-3.2259	13.7612|13.7612	0.62968|0.62968	0.0:0.0:0.7103:0.2897|0.0:0.0:0.7103:0.2897	.|.	129|.	Q8NCR6|.	CI024_HUMAN|.	W|L	129|94	ENSP00000297623:R129W|.	ENSP00000297623:R129W|.	R|S	-|-	1|2	2|0	C9orf24|C9orf24	34372763|34372763	0.401000|0.401000	0.25303|0.25303	0.401000|0.401000	0.26359|0.26359	0.569000|0.569000	0.35902|0.35902	2.816000|2.816000	0.48026|0.48026	1.405000|1.405000	0.46838|0.46838	-0.169000|-0.169000	0.13324|0.13324	CGG|TCG		0.522	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		A	34382763	G	A	34382763	3	1	191	1	0	0	0	0	1	0	0	0	2475	1057	37	1	529	1	C9orf24	9	34382763	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09		34382763	106830668	70	11008											
GOLGA2	2801	genome.wustl.edu	37	9	131022956	131022956	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr9:131022956C>T	ENST00000421699.2	-	17	1477	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	GOLGA2_ENST00000609374.1_Missense_Mutation_p.D477N|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	489					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.D477N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTCATTGTCTTGCACCTGG	0.682																																																1	Substitution - Missense(1)	ovary(1)	9											39	44	42					9																	131022956		2203	4300	6503	130062777	SO:0001583	missense	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1465G>A	9.37:g.131022956C>T	ENSP00000416097:p.Asp489Asn		130062777	Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	18.93	3.727355	0.69074	.	.	ENSG00000167110	ENST00000421699	T	0.28895	1.59	5.3	4.41	0.53225	.	0.097640	0.64402	N	0.000002	T	0.32615	0.0835	L	0.28740	0.885	0.53688	D	0.999974	P	0.50272	0.933	P	0.52424	0.698	T	0.02491	-1.1151	10	0.25106	T	0.35	.	13.5747	0.61866	0.0:0.9252:0.0:0.0748	.	489	Q08379	GOGA2_HUMAN	N	489	ENSP00000416097:D489N	ENSP00000416097:D489N	D	-	1	0	GOLGA2	130062777	1.000000	0.71417	0.162000	0.22713	0.972000	0.66771	5.748000	0.68697	1.238000	0.43771	0.305000	0.20034	GAC		0.682	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		T	131022956	C	T	131022956	3	4	191	1	0	0	0	0	1	0	0	0	6552	913	32	2	1583	2	GOLGA2	9	131022956	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	96640193	131022956	10190475	71	11009											
KIAA1984	84960	genome.wustl.edu	37	9	139697148	139697148	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr9:139697148G>C	ENST00000338005.6	+	6	611	c.576G>C	c.(574-576)aaG>aaC	p.K192N	RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		192								p.K192N(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGCTGGACAAGCTGCAGAACC	0.542																																																1	Substitution - Missense(1)	ovary(1)	9											116	125	122					9																	139697148		2030	4187	6217	138816969	SO:0001583	missense	84960																														ENST00000338005.6:c.576G>C	9.37:g.139697148G>C	ENSP00000338013:p.Lys192Asn		138816969	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.514650	0.27123	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11604	2.76	4.83	2.59	0.31030	.	0.646888	0.12566	U	0.457724	T	0.08802	0.0218	L	0.47716	1.5	0.80722	D	1	B	0.20671	0.047	B	0.24701	0.055	T	0.17018	-1.0383	10	0.19147	T	0.46	-25.0294	2.9868	0.05971	0.2166:0.2789:0.5045:0.0	.	192	Q5T5S1	K1984_HUMAN	N	192	ENSP00000338013:K192N	ENSP00000338013:K192N	K	+	3	2	KIAA1984	138816969	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	1.073000	0.30691	1.014000	0.39417	0.561000	0.74099	AAG		0.542	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			C	139697148	G	C	139697148	3	2	191	1	0	0	0	0	1	0	0	0	8266	962	34	3	598	3	KIAA1984	9	139697148	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	8674192	139697148	1516283	72	11010											
HHEX	3087	genome.wustl.edu	37	10	94454460	94454460	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr10:94454460A>G	ENST00000282728.5	+	4	2547	c.748A>G	c.(748-750)Att>Gtt	p.I250V	HHEX_ENST00000492654.2_Missense_Mutation_p.I78V|HHEX_ENST00000472590.2_Missense_Mutation_p.I78V	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	250					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.I250V(1)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TGAATCAGAGATTTCAGAGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											90	90	90					10																	94454460		2203	4300	6503	94444440	SO:0001583	missense	3087			Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.748A>G	10.37:g.94454460A>G	ENSP00000282728:p.Ile250Val		94444440	B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	7.729	0.698767	0.15106	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.90324	-2.65;-1.59;-1.59	5.44	4.3	0.51218	.	0.131519	0.49305	D	0.000152	T	0.76421	0.3985	N	0.14661	0.345	0.27988	N	0.935775	B	0.02656	0.0	B	0.06405	0.002	T	0.61158	-0.7119	10	0.02654	T	1	-0.9239	5.8023	0.18420	0.7043:0.0:0.2957:0.0	.	250	Q03014	HHEX_HUMAN	V	250;78;78	ENSP00000282728:I250V;ENSP00000450017:I78V;ENSP00000447953:I78V	ENSP00000282728:I250V	I	+	1	0	HHEX	94444440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.557000	0.36299	1.071000	0.40834	0.533000	0.62120	ATT		0.458	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			G	94454460	A	G	94454460	3	3	191	1	0	0	0	0	1	0	0	0	7091	333	12	4	762	4	HHEX	10	94454460	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09		94454460	41080287	73	11011											
CYP2C9	1559	genome.wustl.edu	37	10	96748644	96748644	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr10:96748644G>C	ENST00000260682.6	+	9	1344	c.1332G>C	c.(1330-1332)gaG>gaC	p.E444D		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	444					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.E444D(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCGGCATGGAGCTGTTTTTAT	0.453																																					Ovarian(54;1266 1406 16072 35076)											1	Substitution - Missense(1)	ovary(1)	10											160	150	153					10																	96748644		2203	4300	6503	96738634	SO:0001583	missense	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1332G>C	10.37:g.96748644G>C	ENSP00000260682:p.Glu444Asp		96738634	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	11.50	1.656849	0.29425	.	.	ENSG00000138109	ENST00000260682	T	0.75477	-0.94	3.42	0.332	0.15938	.	0.000000	0.64402	U	0.000001	D	0.84777	0.5547	M	0.90814	3.15	0.31235	N	0.695856	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.81256	-0.1015	10	0.87932	D	0	.	6.3541	0.21393	0.4754:0.0:0.5246:0.0	.	444;444	Q5VX92;P11712	.;CP2C9_HUMAN	D	444	ENSP00000260682:E444D	ENSP00000260682:E444D	E	+	3	2	CYP2C9	96738634	1.000000	0.71417	0.988000	0.46212	0.045000	0.14185	3.457000	0.53007	-0.032000	0.13758	-0.397000	0.06425	GAG		0.453	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		C	96748644	G	C	96748644	3	2	191	1	0	0	0	0	1	0	0	0	4168	962	34	3	1366	3	CYP2C9	10	96748644	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	2294184	96748644	38786103	74	11012											
CRTAC1	55118	genome.wustl.edu	37	10	99643995	99643995	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr10:99643995C>T	ENST00000370597.3	-	12	1955	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	CRTAC1_ENST00000468549.1_5'UTR|CRTAC1_ENST00000370591.2_Missense_Mutation_p.E534K|CRTAC1_ENST00000298819.4_Missense_Mutation_p.E534K	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	534						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E534K(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGTGTGTCCTCATCCCGGGGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	10											66	44	51					10																	99643995		2201	4299	6500	99633985	SO:0001583	missense	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1600G>A	10.37:g.99643995C>T	ENSP00000359629:p.Glu534Lys		99633985	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079725	0.55753	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.73469	1.49;-0.75;1.49;0.1;0.1	5.45	5.45	0.79879	.	0.452872	0.23189	N	0.050925	T	0.59838	0.2223	L	0.42245	1.32	0.34104	D	0.662202	P;B;B	0.37276	0.589;0.255;0.309	B;B;B	0.30316	0.114;0.034;0.037	T	0.64601	-0.6369	10	0.07644	T	0.81	-12.4926	12.2784	0.54751	0.0:0.9176:0.0:0.0824	.	534;534;430	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	K	430;534;534;526;534	ENSP00000408445:E430K;ENSP00000359629:E534K;ENSP00000298819:E534K;ENSP00000310810:E526K;ENSP00000359623:E534K	ENSP00000298819:E534K	E	-	1	0	CRTAC1	99633985	0.308000	0.24509	0.794000	0.32065	0.769000	0.43574	2.326000	0.43849	2.572000	0.86782	0.462000	0.41574	GAG		0.622	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		T	99643995	C	T	99643995	3	4	191	1	0	0	0	0	1	0	0	0	3896	835	29	2	401	2	CRTAC1	10	99643995	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	2895351	99643995	35890752	75	11013											
C10orf79	80217	genome.wustl.edu	37	10	105952029	105952029	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr10:105952029C>T	ENST00000278064.2	-	12	1592	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R	WDR96_ENST00000428666.1_Missense_Mutation_p.G493R|WDR96_ENST00000357060.3_Missense_Mutation_p.G492R														p.G492R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTGCTGTTCCAACTAACAGA	0.338																																																1	Substitution - Missense(1)	ovary(1)	10											124	121	122					10																	105952029		2203	4300	6503	105942019	SO:0001583	missense	80217																														ENST00000278064.2:c.1267G>A	10.37:g.105952029C>T	ENSP00000278064:p.Gly423Arg		105942019		Missense_Mutation	SNP	ENST00000278064.2	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.950309	0.73787	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064	T;T;T	0.37752	1.18;1.18;1.18	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.42821	D	0.000656	T	0.50854	0.1640	M	0.74881	2.28	0.43025	D	0.994585	P;P	0.50272	0.933;0.898	P;P	0.50352	0.629;0.638	T	0.43426	-0.9392	10	0.29301	T	0.29	.	17.7923	0.88558	0.0:1.0:0.0:0.0	.	493;492	B4DHB6;Q8NDM7	.;WDR96_HUMAN	R	492;493;423	ENSP00000349568:G492R;ENSP00000400289:G493R;ENSP00000278064:G423R	ENSP00000278064:G423R	G	-	1	0	WDR96	105942019	0.976000	0.34144	0.961000	0.40146	0.693000	0.40251	2.868000	0.48436	2.793000	0.96121	0.655000	0.94253	GGA		0.338	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			T	105952029	C	T	105952029	3	4	191	1	0	0	0	0	1	0	0	0	1618	603	21	2	3631	2	C10orf79	10	105952029	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	6308034	105952029	29582718	76	11014											
C10orf96	374355	genome.wustl.edu	37	10	118116907	118116907	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr10:118116907A>G	ENST00000333254.3	+	6	715	c.464A>G	c.(463-465)gAa>gGa	p.E155G		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	155								p.E155G(1)									AAGTCAATGGAACATGATAGT	0.289																																																1	Substitution - Missense(1)	ovary(1)	10											41	41	41					10																	118116907		2191	4271	6462	118106897	SO:0001583	missense	374355			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 96"	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.464A>G	10.37:g.118116907A>G	ENSP00000329860:p.Glu155Gly		118106897		Missense_Mutation	SNP	ENST00000333254.3	37	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	A	9.790	1.177572	0.21787	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.59	4.46	0.54185	.	0.233427	0.38720	N	0.001600	T	0.46658	0.1404	L	0.34521	1.04	0.34202	D	0.673268	B	0.18166	0.026	B	0.19946	0.027	T	0.54840	-0.8233	9	0.52906	T	0.07	-18.3339	11.4406	0.50094	0.9296:0.0:0.0704:0.0	.	155	P0C7W6	CJ096_HUMAN	G	155	.	ENSP00000329860:E155G	E	+	2	0	C10orf96	118106897	1.000000	0.71417	0.959000	0.39883	0.601000	0.36947	4.478000	0.60230	0.959000	0.37980	0.528000	0.53228	GAA		0.289	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		G	118116907	A	G	118116907	3	3	191	1	0	0	0	0	1	0	0	0	1627	246	9	4	482	4	C10orf96	10	118116907	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	12164878	118116907	17417840	77	11015											
OR51B2	79345	genome.wustl.edu	37	11	5345006	5345006	+	Silent	SNP	A	A	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr11:5345006A>C	ENST00000328813.2	-	1	576	c.522T>G	c.(520-522)cgT>cgG	p.R174R	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R174R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGAAAGCACGTGTGATAA	0.388																																																1	Substitution - coding silent(1)	ovary(1)	11											95	93	94					11																	5345006		2201	4297	6498	5301582	SO:0001819	synonymous_variant	79345			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.522T>G	11.37:g.5345006A>C			5301582	Q96RD4	Silent	SNP	ENST00000328813.2	37	CCDS31377.1																																																																																				0.388	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		C	5345006	A	C	5345006	2	2	191	1	0	0	0	0	0	0	0	1	11089	146	6	5		5	OR51B2	11	5345006	Silent	SNP	A	TCGA-23-1124-01A-01W-0488-09		5345006	129661510	78	11016											
OR52H1	390067	genome.wustl.edu	37	11	5566538	5566538	+	Silent	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr11:5566538G>C	ENST00000322653.4	-	1	241	c.216C>G	c.(214-216)tcC>tcG	p.S72S	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S72S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCAGCATGGAGAGAAAGA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	11											88	76	80					11																	5566538		2201	4297	6498	5523114	SO:0001819	synonymous_variant	390067			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.216C>G	11.37:g.5566538G>C			5523114	B9EH26|Q6IF79	Silent	SNP	ENST00000322653.4	37	CCDS31386.1																																																																																				0.483	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		C	5566538	G	C	5566538	2	2	191	1	0	0	0	0	0	0	0	1	11119	1335	47	3		3	OR52H1	11	5566538	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	221532	5566538	129439978	79	11017											
SWAP70	23075	genome.wustl.edu	37	11	9746380	9746380	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr11:9746380C>A	ENST00000318950.6	+	4	693	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	SWAP70_ENST00000447399.2_Missense_Mutation_p.S139Y	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	197					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.S197Y(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CAGACTGTGTCTATGGCAATT	0.343																																																1	Substitution - Missense(1)	ovary(1)	11											107	107	107					11																	9746380		2201	4294	6495	9702956	SO:0001583	missense	23075			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.590C>A	11.37:g.9746380C>A	ENSP00000315630:p.Ser197Tyr		9702956	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773681	0.90108	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.13196	2.61;2.61;2.61	5.79	5.79	0.91817	.	0.111114	0.64402	D	0.000005	T	0.38931	0.1059	M	0.72118	2.19	0.80722	D	1	D;D;D	0.71674	0.998;0.989;0.963	D;P;P	0.65573	0.936;0.817;0.642	T	0.07443	-1.0772	10	0.87932	D	0	-4.8497	20.0235	0.97511	0.0:1.0:0.0:0.0	.	139;197;139	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	Y	139;197;48	ENSP00000399056:S139Y;ENSP00000315630:S197Y;ENSP00000435587:S48Y	ENSP00000315630:S197Y	S	+	2	0	SWAP70	9702956	1.000000	0.71417	0.498000	0.27564	0.996000	0.88848	7.783000	0.85696	2.727000	0.93392	0.563000	0.77884	TCT		0.343	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		A	9746380	C	A	9746380	3	1	191	1	0	0	0	0	1	0	0	0	15425	913	32	3	604	3	SWAP70	11	9746380	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	4179842	9746380	125260136	80	11018											
AGBL2	79841	genome.wustl.edu	37	11	47681860	47681860	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr11:47681860C>G	ENST00000525123.1	-	19	2859	c.2574G>C	c.(2572-2574)aaG>aaC	p.K858N	AGBL2_ENST00000298861.4_Missense_Mutation_p.K858N|AGBL2_ENST00000357610.3_Missense_Mutation_p.K860N	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	858						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K858N(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTATGGTTCTCTTTGGAGAGC	0.433																																																1	Substitution - Missense(1)	ovary(1)	11											109	100	103					11																	47681860		2201	4298	6499	47638436	SO:0001583	missense	79841				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2574G>C	11.37:g.47681860C>G	ENSP00000435582:p.Lys858Asn		47638436	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683612	0.68157	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861	T;T;T	0.10668	2.85;2.85;2.85	4.79	3.87	0.44632	.	0.141097	0.32987	N	0.005419	T	0.14270	0.0345	M	0.63428	1.95	0.24607	N	0.993748	D	0.53151	0.958	P	0.45343	0.477	T	0.09684	-1.0663	10	0.42905	T	0.14	-18.7905	9.4198	0.38544	0.0:0.9026:0.0:0.0974	.	858	Q5U5Z8	CBPC2_HUMAN	N	241;858;860;858	ENSP00000435582:K858N;ENSP00000350228:K860N;ENSP00000298861:K858N	ENSP00000298861:K858N	K	-	3	2	AGBL2	47638436	0.050000	0.20438	0.771000	0.31576	0.335000	0.28730	0.388000	0.20735	1.383000	0.46405	0.460000	0.39030	AAG		0.433	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		G	47681860	C	G	47681860	3	3	191	1	0	0	0	0	1	0	0	0	376	912	32	3	138	3	AGBL2	11	47681860	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	37935480	47681860	87324656	81	11019											
PLCB3	5331	genome.wustl.edu	37	11	64029960	64029960	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr11:64029960G>A	ENST00000540288.1	+	18	2223	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	PLCB3_ENST00000279230.6_Missense_Mutation_p.R707Q|PLCB3_ENST00000325234.5_Missense_Mutation_p.R640Q	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	707					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R707Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TTCATGCGGCGGCCGGACAAG	0.652																																																1	Substitution - Missense(1)	ovary(1)	11											64	72	69					11																	64029960		2201	4297	6498	63786536	SO:0001583	missense	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2120G>A	11.37:g.64029960G>A	ENSP00000443631:p.Arg707Gln		63786536	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	36	5.869140	0.97049	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.53206	0.63;0.63;0.63	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	L	0.38733	1.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.59150	-0.7508	10	0.44086	T	0.13	.	17.8548	0.88759	0.0:0.0:1.0:0.0	.	640;707	G5E960;Q01970	.;PLCB3_HUMAN	Q	707;707;640	ENSP00000279230:R707Q;ENSP00000443631:R707Q;ENSP00000324660:R640Q	ENSP00000279230:R707Q	R	+	2	0	PLCB3	63786536	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.753000	0.98904	2.518000	0.84900	0.591000	0.81541	CGG		0.652	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			A	64029960	G	A	64029960	3	1	191	1	0	0	0	0	1	0	0	0	12029	1116	39	1	2190	1	PLCB3	11	64029960	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	16348100	64029960	70976556	82	11020											
TM7SF2	7108	genome.wustl.edu	37	11	64881061	64881061	+	Missense_Mutation	SNP	G	G	C	rs377167308		TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr11:64881061G>C	ENST00000279263.7	+	5	760	c.598G>C	c.(598-600)Ggc>Cgc	p.G200R	TM7SF2_ENST00000345348.5_Missense_Mutation_p.G200R|TM7SF2_ENST00000540748.1_Missense_Mutation_p.G84R|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000531029.1_Intron	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	200					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)	p.G200R(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGGCCTCATCGGCTGGGTATG	0.557																																																1	Substitution - Missense(1)	ovary(1)	11											91	94	93					11																	64881061		1880	4088	5968	64637637	SO:0001583	missense	7108			BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.598G>C	11.37:g.64881061G>C	ENSP00000279263:p.Gly200Arg		64637637	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547391	0.86022	.	.	ENSG00000149809	ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000531321;ENST00000529414;ENST00000526085;ENST00000527968	D;D;D;D;D;D;D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7	4.83	3.92	0.45320	.	0.101398	0.64402	D	0.000002	D	0.98924	0.9635	H	0.95712	3.71	0.53005	D	0.99996	D;D;D	0.71674	0.995;0.998;0.998	D;D;D	0.77557	0.973;0.983;0.99	D	0.99094	1.0841	10	0.62326	D	0.03	-7.5381	10.7792	0.46367	0.0926:0.0:0.9074:0.0	.	84;200;200	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	R	200;171;132;84;171;200;106;189;51;32	ENSP00000279263:G200R;ENSP00000435972:G171R;ENSP00000432187:G132R;ENSP00000441215:G84R;ENSP00000433325:G171R;ENSP00000329520:G200R;ENSP00000431300:G106R;ENSP00000433275:G189R;ENSP00000434447:G51R;ENSP00000431685:G32R	ENSP00000279263:G200R	G	+	1	0	TM7SF2	64637637	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	7.351000	0.79395	1.275000	0.44379	-0.339000	0.08088	GGC		0.557	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		C	64881061	G	C	64881061	3	2	191	1	0	0	0	0	1	0	0	0	15974	1116	39	3	616	3	TM7SF2	11	64881061	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	851101	64881061	70125455	83	11021											
FOLR4	390243	genome.wustl.edu	37	11	94040366	94040366	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr11:94040366T>A	ENST00000440961.2	+	3	407	c.363T>A	c.(361-363)aaT>aaA	p.N121K		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	128					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.N122K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GAGTTGTGAATGTGCCGCTGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	11											93	100	98					11																	94040366		2185	4286	6471	93680014	SO:0001583	missense	390243					11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"folate receptor 4 (delta) homolog (mouse)"			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.363T>A	11.37:g.94040366T>A	ENSP00000416935:p.Asn121Lys		93680014		Missense_Mutation	SNP	ENST00000440961.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.76|12.76	2.033120|2.033120	0.35893|0.35893	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000328458|ENST00000440961	.|T	.|0.75477	.|-0.94	4.57|4.57	-6.96|-6.96	0.01622|0.01622	.|.	.|0.885835	.|0.09877	.|N	.|0.744177	T|T	0.53594|0.53594	0.1806|0.1806	N|N	0.25485|0.25485	0.75|0.75	0.09310|0.09310	N|N	1|1	.|P	.|0.40553	.|0.721	.|B	.|0.42030	.|0.373	T|T	0.50145|0.50145	-0.8862|-0.8862	5|9	.|.	.|.	.|.	-15.711|-15.711	3.8329|3.8329	0.08882|0.08882	0.1055:0.2616:0.1047:0.5283|0.1055:0.2616:0.1047:0.5283	.|.	.|121	.|A6ND01-2	.|.	K|K	122|121	.|ENSP00000416935:N121K	.|.	M|N	+|+	2|3	0|2	FOLR4|FOLR4	93680014|93680014	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.849000|-1.849000	0.01672|0.01672	-1.309000|-1.309000	0.02315|0.02315	0.402000|0.402000	0.26972|0.26972	ATG|AAT		0.537	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		A	94040366	T	A	94040366	3	1	191	1	0	0	0	0	1	0	0	0	5984	1461	51	5	373	5	FOLR4	11	94040366	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	29159305	94040366	40966150	84	11022											
NCAPD3	23310	genome.wustl.edu	37	11	134027822	134027822	+	Splice_Site	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr11:134027822C>A	ENST00000534548.2	-	31	4239		c.e31+1			NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATAAGGCTTACCCTGACTGCA	0.443																																																1	Unknown(1)	ovary(1)	11											215	221	219					11																	134027822		2201	4297	6498	133533032	SO:0001630	splice_region_variant	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4174+1G>T	11.37:g.134027822C>A			133533032	A6NFS2|Q4KMQ9	Splice_Site	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051229	0.36181	.	.	ENSG00000151503	ENST00000534548	.	.	.	4.85	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8872	0.46974	0.0:0.908:0.0:0.092	.	.	.	.	.	-1	.	.	.	-	.	.	NCAPD3	133533032	0.999000	0.42202	0.941000	0.38009	0.150000	0.21749	2.362000	0.44169	2.526000	0.85167	0.561000	0.74099	.		0.443	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Intron	A	134027822	C	A	134027822	5	1	191	1	0	0	0	0	0	0	1	0	10206	521	18	3	341	3	NCAPD3	11	134027822	Splice_Site	SNP	C	TCGA-23-1124-01A-01W-0488-09	39987456	134027822	978694	85	11023											
LRRC23	10233	genome.wustl.edu	37	12	7023194	7023194	+	3'UTR	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:7023194C>T	ENST00000007969.8	+	0	1416				ENO2_ENST00000229277.1_5'Flank|LRRC23_ENST00000323702.5_Missense_Mutation_p.P300S|ENO2_ENST00000541477.1_5'Flank|ENO2_ENST00000544774.1_5'Flank|LRRC23_ENST00000443597.2_3'UTR|ENO2_ENST00000535366.1_5'Flank|ENO2_ENST00000538763.1_5'Flank|ENO2_ENST00000545045.2_5'Flank|LRRC23_ENST00000429740.1_3'UTR	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23									p.P300S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CTGCTCTGTGCCGGTCCTCTG	0.627																																																1	Substitution - Missense(1)	ovary(1)	12											120	112	115					12																	7023194		2203	4300	6503	6893455	SO:0001624	3_prime_UTR_variant	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.*164C>T	12.37:g.7023194C>T			6893455	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	C	7.446	0.641617	0.14451	.	.	ENSG00000010626	ENST00000323702	T	0.68765	-0.35	2.88	-5.07	0.02938	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.08055	0.003	T	0.35674	-0.9779	8	0.87932	D	0	.	1.6198	0.02711	0.218:0.3958:0.2457:0.1405	.	300	Q53EV4-2	.	S	300	ENSP00000317464:P300S	ENSP00000317464:P300S	P	+	1	0	LRRC23	6893455	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.574000	0.05868	-1.160000	0.02804	0.462000	0.41574	CCG		0.627	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		T	7023194	C	T	7023194	1	4	191	0	1	0	0	0	0	0	0	0	8978	739	26	2		2	LRRC23	12	7023194	3'UTR	SNP	C	TCGA-23-1124-01A-01W-0488-09		7023194	126828701	86	11024											
CD163	9332	genome.wustl.edu	37	12	7651519	7651519	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:7651519T>A	ENST00000359156.4	-	4	925	c.723A>T	c.(721-723)caA>caT	p.Q241H	CD163_ENST00000541972.1_Missense_Mutation_p.Q229H|CD163_ENST00000396620.3_Missense_Mutation_p.Q241H|CD163_ENST00000432237.2_Missense_Mutation_p.Q241H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	241	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.Q241H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTCCCCATCCTTGATGTTTGC	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											196	182	187					12																	7651519		2203	4300	6503	7542786	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.723A>T	12.37:g.7651519T>A	ENSP00000352071:p.Gln241His		7542786	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.611628	0.28712	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.16	-3.03	0.05429	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.570510	0.03376	N	0.199754	T	0.25457	0.0619	N	0.16166	0.38	0.09310	N	1	P;P;P	0.45634	0.863;0.457;0.598	P;B;B	0.48227	0.571;0.206;0.366	T	0.09640	-1.0665	10	0.51188	T	0.08	.	1.7487	0.02967	0.1327:0.3255:0.2728:0.2691	.	241;241;241	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	H	241;229;241;241	ENSP00000352071:Q241H;ENSP00000444071:Q229H;ENSP00000379863:Q241H;ENSP00000403885:Q241H	ENSP00000352071:Q241H	Q	-	3	2	CD163	7542786	0.000000	0.05858	0.022000	0.16811	0.734000	0.41952	-1.605000	0.02074	-0.473000	0.06871	0.528000	0.53228	CAA		0.438	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		A	7651519	T	A	7651519	3	1	191	1	0	0	0	0	1	0	0	0	2967	1606	56	5	2799	5	CD163	12	7651519	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	628325	7651519	126200376	87	11025											
TAS2R8	50836	genome.wustl.edu	37	12	10959143	10959143	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:10959143A>T	ENST00000240615.2	-	1	749	c.437T>A	c.(436-438)cTt>cAt	p.L146H		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	146					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.L146H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCTGCTATAAGGCTGACCAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	12											117	105	109					12																	10959143		2203	4300	6503	10850410	SO:0001583	missense	50836			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.437T>A	12.37:g.10959143A>T	ENSP00000240615:p.Leu146His		10850410	Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669581	0.47677	.	.	ENSG00000121314	ENST00000240615	T	0.46819	0.86	5.24	-0.279	0.12890	GPCR, rhodopsin-like superfamily (1);	0.657076	0.12233	U	0.487271	T	0.54727	0.1876	L	0.59912	1.85	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.44190	-0.9344	10	0.87932	D	0	.	0.8822	0.01236	0.4303:0.1586:0.2577:0.1534	.	146	Q9NYW2	TA2R8_HUMAN	H	146	ENSP00000240615:L146H	ENSP00000240615:L146H	L	-	2	0	TAS2R8	10850410	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.402000	0.20965	0.307000	0.22880	0.455000	0.32223	CTT		0.398	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			T	10959143	A	T	10959143	3	4	191	1	0	0	0	0	1	0	0	0	15587	72	3	5	495	5	TAS2R8	12	10959143	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	3307624	10959143	122892752	88	11026											
PLCZ1	89869	genome.wustl.edu	37	12	18836226	18836226	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:18836226C>A	ENST00000538330.1	-	11	1501	c.1120G>T	c.(1120-1122)Ggt>Tgt	p.G374C	PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.G592C|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G399C|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G590C|PLCZ1_ENST00000534932.1_Missense_Mutation_p.G73C|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G397C					phospholipase C, zeta 1									p.G592C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AGGCTCTCACCCATTCTGGAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	12											122	110	114					12																	18836226		2203	4300	6503	18727493	SO:0001583	missense	89869			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1120G>T	12.37:g.18836226C>A	ENSP00000445880:p.Gly374Cys		18727493		Missense_Mutation	SNP	ENST00000538330.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.949412|3.949412	0.73787|0.73787	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875|ENST00000536023	T;T;T;T;T;T|.	0.16897|.	2.31;2.31;2.31;2.31;2.31;2.31|.	5.34|5.34	5.34|5.34	0.76211|0.76211	C2 calcium/lipid-binding domain, CaLB (1);|.	0.059793|0.059793	0.64402|0.64402	D|D	0.000003|0.000003	D|D	0.84005|0.84005	0.5377|0.5377	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.86952|0.86952	0.2086|0.2086	10|6	0.87932|.	D|.	0|.	.|.	14.4155|14.4155	0.67148|0.67148	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	592;374|.	Q86YW0;Q8N7S5|.	PLCZ1_HUMAN;.|.	C|V	73;374;592;590;397;399|84	ENSP00000438826:G73C;ENSP00000445880:G374C;ENSP00000266505:G592C;ENSP00000402358:G590C;ENSP00000400504:G397C;ENSP00000445026:G399C|.	ENSP00000266505:G592C|.	G|G	-|-	1|2	0|0	PLCZ1|PLCZ1	18727493|18727493	0.977000|0.977000	0.34250|0.34250	0.758000|0.758000	0.31321|0.31321	0.820000|0.820000	0.46376|0.46376	4.117000|4.117000	0.57877|0.57877	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GGT|GGG		0.378	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		A	18836226	C	A	18836226	3	1	191	1	0	0	0	0	1	0	0	0	12044	623	22	3	56	3	PLCZ1	12	18836226	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	7877083	18836226	115015669	89	11027											
COL2A1	1280	genome.wustl.edu	37	12	48386684	48386684	+	Missense_Mutation	SNP	G	G	A	rs372264296		TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:48386684G>A	ENST00000380518.3	-	16	1164	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	COL2A1_ENST00000337299.6_Missense_Mutation_p.R265W	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	334	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R265W(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGCCAGTCCGTCCTCTTTCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	12						G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	91	71	78		1000,793	4.6	1	12		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COL2A1	NM_001844.4,NM_033150.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	334/1488,265/1419	48386684	1,13005	2203	4300	6503	46672951	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1000C>T	12.37:g.48386684G>A	ENSP00000369889:p.Arg334Trp		46672951	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145913	0.77888	0.0	1.16E-4	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93366	-3.21;-3.21	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	M	0.90705	3.14	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.979	D	0.97942	1.0326	10	0.87932	D	0	.	16.636	0.85060	0.0:0.0:1.0:0.0	.	265;334	P02458-1;P02458	.;CO2A1_HUMAN	W	334;265;265	ENSP00000369889:R334W;ENSP00000338213:R265W	ENSP00000338213:R265W	R	-	1	2	COL2A1	46672951	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.185000	0.65076	2.532000	0.85374	0.655000	0.94253	CGG		0.542	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		A	48386684	G	A	48386684	3	1	191	1	0	0	0	0	1	0	0	0	3687	1144	40	1	3619	1	COL2A1	12	48386684	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	29550458	48386684	85465211	90	11028											
IKZF4	64375	genome.wustl.edu	37	12	56417511	56417511	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:56417511C>A	ENST00000262032.5	+	6	511	c.144C>A	c.(142-144)gaC>gaA	p.D48E	IKZF4_ENST00000548601.1_Intron|IKZF4_ENST00000547791.1_Intron|IKZF4_ENST00000547167.1_Missense_Mutation_p.D48E|IKZF4_ENST00000431367.2_Intron			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	48					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D48E(1)		NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGCCCAAGACTCCAACCATT	0.453																																																1	Substitution - Missense(1)	ovary(1)	12											97	95	95					12																	56417511		1850	4092	5942	54703778	SO:0001583	missense	64375			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.144C>A	12.37:g.56417511C>A	ENSP00000262032:p.Asp48Glu		54703778	Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091361	0.55968	.	.	ENSG00000123411	ENST00000262032;ENST00000547167	T;T	0.08458	3.09;3.09	5.55	4.59	0.56863	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.80722	D	1	P	0.42584	0.784	B	0.25884	0.064	T	0.54629	-0.8265	9	0.15499	T	0.54	-4.7527	8.4428	0.32824	0.0:0.895:0.0:0.105	.	48	Q9H2S9	IKZF4_HUMAN	E	48	ENSP00000262032:D48E;ENSP00000448419:D48E	ENSP00000262032:D48E	D	+	3	2	IKZF4	54703778	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.949000	0.40313	2.885000	0.99019	0.655000	0.94253	GAC		0.453	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		A	56417511	C	A	56417511	3	1	191	1	0	0	0	0	1	0	0	0	7617	564	20	3	150	3	IKZF4	12	56417511	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	8030827	56417511	77434384	91	11029											
GLS2	27165	genome.wustl.edu	37	12	56865559	56865559	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:56865559G>T	ENST00000311966.4	-	17	1928	c.1650C>A	c.(1648-1650)gaC>gaA	p.D550E	GLS2_ENST00000476991.1_5'Flank|MIP_ENST00000555551.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	550					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.D550E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TTCCTCACCTGTCCTTGGCAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											163	157	159					12																	56865559		2203	4300	6503	55151826	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1650C>A	12.37:g.56865559G>T	ENSP00000310447:p.Asp550Glu		55151826	B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288587	0.80914	.	.	ENSG00000135423	ENST00000311966	T	0.43688	0.94	4.81	2.98	0.34508	Ankyrin repeat-containing domain (4);	0.049158	0.85682	D	0.000000	T	0.65688	0.2715	M	0.88704	2.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68010	-0.5522	10	0.87932	D	0	-34.9482	8.7622	0.34680	0.1827:0.0:0.8173:0.0	.	550	Q9UI32	GLSL_HUMAN	E	550	ENSP00000310447:D550E	ENSP00000310447:D550E	D	-	3	2	GLS2	55151826	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.476000	0.45171	0.710000	0.31997	0.563000	0.77884	GAC		0.493	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		T	56865559	G	T	56865559	3	4	191	1	0	0	0	0	1	0	0	0	6464	1368	48	3	166	3	GLS2	12	56865559	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	448048	56865559	76986336	92	11030											
WIF1	11197	genome.wustl.edu	37	12	65445178	65445178	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:65445178T>C	ENST00000286574.4	-	10	1465	c.1091A>G	c.(1090-1092)aAa>aGa	p.K364R		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	364					multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.K364R(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTCGGCCTTTTTAAGTGAAGG	0.498			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	1	Substitution - Missense(1)	ovary(1)	12											62	63	63					12																	65445178		2203	4300	6503	63731445	SO:0001583	missense	11197			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.1091A>G	12.37:g.65445178T>C	ENSP00000286574:p.Lys364Arg		63731445	Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158634	0.78226	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	D;T	0.89270	-2.49;-0.99	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.90484	0.7019	L	0.29908	0.895	0.53005	D	0.999966	D	0.63880	0.993	D	0.70935	0.971	D	0.89511	0.3771	9	.	.	.	.	16.226	0.82293	0.0:0.0:0.0:1.0	.	364	Q9Y5W5	WIF1_HUMAN	R	364;113	ENSP00000286574:K364R;ENSP00000439024:K113R	.	K	-	2	0	WIF1	63731445	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.403000	0.66338	2.371000	0.80710	0.533000	0.62120	AAA		0.498	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			C	65445178	T	C	65445178	3	2	191	1	0	0	0	0	1	0	0	0	17366	1841	64	4	52	4	WIF1	12	65445178	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	8579619	65445178	68406717	93	11031											
GRIP1	23426	genome.wustl.edu	37	12	66856837	66856837	+	Silent	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:66856837G>T	ENST00000398016.3	-	9	977	c.909C>A	c.(907-909)tcC>tcA	p.S303S	GRIP1_ENST00000286445.7_Silent_p.S303S|GRIP1_ENST00000359742.4_Silent_p.S303S	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.S303S(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTCCATCGATGGAGAGGATGT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	12											135	132	133					12																	66856837		2053	4206	6259	65143104	SO:0001819	synonymous_variant	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.909C>A	12.37:g.66856837G>T			65143104	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.371|5.371	0.253762|0.253762	0.10185|0.10185	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000543172|ENST00000538164	.|.	.|.	.|.	5.23|5.23	3.18|3.18	0.36537|0.36537	.|.	.|.	.|.	.|.	.|.	T|T	0.52306|0.52306	0.1726|0.1726	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44019|0.44019	-0.9355|-0.9355	4|4	.|.	.|.	.|.	-13.3827|-13.3827	4.8374|4.8374	0.13471|0.13471	0.0769:0.1234:0.5516:0.2481|0.0769:0.1234:0.5516:0.2481	.|.	.|.	.|.	.|.	N|Q	124|118	.|.	.|.	H|P	-|-	1|2	0|0	GRIP1|GRIP1	65143104|65143104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.536000|0.536000	0.34869|0.34869	1.066000|1.066000	0.30604|0.30604	0.721000|0.721000	0.32231|0.32231	0.655000|0.655000	0.94253|0.94253	CAT|CCA		0.502	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			T	66856837	G	T	66856837	2	4	191	1	0	0	0	0	0	0	0	1	6787	1335	47	3		3	GRIP1	12	66856837	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	1411659	66856837	66995058	94	11032											
NAV3	89795	genome.wustl.edu	37	12	78582112	78582112	+	Missense_Mutation	SNP	C	C	T	rs573838509		TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:78582112C>T	ENST00000397909.2	+	32	6048	c.5875C>T	c.(5875-5877)Cgt>Tgt	p.R1959C	NAV3_ENST00000266692.7_Missense_Mutation_p.R1760C|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.R1937C|NAV3_ENST00000228327.6_Missense_Mutation_p.R1937C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1959						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1937C(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTAATAAGACGTCTCTTTAA	0.343										HNSCC(70;0.22)			C|||	1	0.000199681	8e-04	0	5008	,	,		17994	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12											113	109	111					12																	78582112		1852	4089	5941	77106243	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5875C>T	12.37:g.78582112C>T	ENSP00000381007:p.Arg1959Cys		77106243	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.555528|4.555528	0.86231|0.86231	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.32753|.	1.51;1.49;1.5;1.44;2.34|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.41097|.	U|.	0.000944|.	T|T	0.75199|0.75199	0.3817|0.3817	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.985;0.996;0.951;0.998|.	T|T	0.74621|0.74621	-0.3604|-0.3604	10|5	0.87932|.	D|.	0|.	-4.2121|-4.2121	15.5263|15.5263	0.75910|0.75910	0.1387:0.8613:0.0:0.0|0.1387:0.8613:0.0:0.0	.|.	1937;1760;1959;1937|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	C|M	1937;1959;1937;1760;551;559|831	ENSP00000446132:R1937C;ENSP00000381007:R1959C;ENSP00000228327:R1937C;ENSP00000266692:R1760C;ENSP00000448303:R559C|.	ENSP00000228327:R1937C|.	R|T	+|+	1|2	0|0	NAV3|NAV3	77106243|77106243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.931000|5.931000	0.70113|0.70113	2.722000|2.722000	0.93159|0.93159	0.591000|0.591000	0.81541|0.81541	CGT|ACG		0.343	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78582112	C	T	78582112	3	4	191	1	0	0	0	0	1	0	0	0	10185	536	19	1	5931	1	NAV3	12	78582112	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	11725275	78582112	55269783	95	11033											
MLXIP	22877	genome.wustl.edu	37	12	122623472	122623472	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr12:122623472G>T	ENST00000319080.7	+	15	2627	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	MLXIP_ENST00000538698.1_Missense_Mutation_p.W439L					MLX interacting protein									p.W832L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TTGCAGAATTGGAAGTTCTGG	0.507																																					Esophageal Squamous(105;787 1493 16200 18566 52466)											1	Substitution - Missense(1)	ovary(1)	12											81	83	82					12																	122623472		1876	4099	5975	121189425	SO:0001583	missense	22877			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2495G>T	12.37:g.122623472G>T	ENSP00000312834:p.Trp832Leu		121189425		Nonsense_Mutation	SNP	ENST00000319080.7	37		.	.	.	.	.	.	.	.	.	.	G	33	5.230587	0.95207	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000366272	T;T;T	0.61742	2.35;1.61;0.08	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79676	-0.1704	9	0.62326	D	0.03	-12.1622	19.2864	0.94072	0.0:0.0:1.0:0.0	.	832	Q9HAP2	MLXIP_HUMAN	L	832;439;303	ENSP00000312834:W832L;ENSP00000440769:W439L;ENSP00000445891:W303L	ENSP00000312834:W832L	W	+	2	0	MLXIP	121189425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.748000	0.98867	2.549000	0.85964	0.655000	0.94253	TGG		0.507	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		T	122623472	G	T	122623472	3	4	191	1	0	0	0	0	1	0	0	0	9636	1357	47	3	2553	3	MLXIP	12	122623472	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	44041360	122623472	11228423	96	11034											
CPB2	1361	genome.wustl.edu	37	13	46627781	46627781	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr13:46627781T>G	ENST00000181383.4	-	11	1256	c.1240A>C	c.(1240-1242)Aaa>Caa	p.K414Q	CPB2_ENST00000439329.3_Silent_p.L359L|ZC3H13_ENST00000242848.4_5'Flank|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|ZC3H13_ENST00000282007.3_5'Flank|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	414					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K414Q(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CAAGCTATTTTAGAGACAGCG	0.408																																																1	Substitution - Missense(1)	ovary(1)	13											93	97	96					13																	46627781		2203	4300	6503	45525782	SO:0001583	missense	1361			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1240A>C	13.37:g.46627781T>G	ENSP00000181383:p.Lys414Gln		45525782	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.422983	0.25639	.	.	ENSG00000080618	ENST00000181383	T	0.28666	1.6	5.84	1.79	0.24919	.	0.409334	0.31113	N	0.008234	T	0.15912	0.0383	N	0.25890	0.77	0.48341	D	0.999632	B	0.28605	0.217	B	0.21546	0.035	T	0.07481	-1.0770	10	0.30854	T	0.27	.	4.7107	0.12872	0.1312:0.2478:0.0:0.621	.	414	Q96IY4	CBPB2_HUMAN	Q	414	ENSP00000181383:K414Q	ENSP00000181383:K414Q	K	-	1	0	CPB2	45525782	0.993000	0.37304	0.842000	0.33263	0.517000	0.34286	0.847000	0.27696	0.438000	0.26450	-0.366000	0.07423	AAA		0.408	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		G	46627781	T	G	46627781	3	3	191	1	0	0	0	0	1	0	0	0	3797	1763	61	5	35	5	CPB2	13	46627781	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09		46627781	68542097	97	11035											
KLF12	11278	genome.wustl.edu	37	13	74289529	74289529	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr13:74289529T>C	ENST00000377669.2	-	6	1029	c.1003A>G	c.(1003-1005)Aag>Gag	p.K335E	KLF12_ENST00000377666.4_Missense_Mutation_p.K335E	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	335					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K335E(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CGGTGAGCCTTCAGGTGAGAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	13											172	141	151					13																	74289529		2203	4300	6503	73187530	SO:0001583	missense	11278			AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.1003A>G	13.37:g.74289529T>C	ENSP00000366897:p.Lys335Glu		73187530	A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.016432	0.93404	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.39592	1.07;1.07	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	T	0.62229	-0.6898	10	0.87932	D	0	.	15.3448	0.74327	0.0:0.0:0.0:1.0	.	335	Q9Y4X4	KLF12_HUMAN	E	335	ENSP00000366897:K335E;ENSP00000366894:K335E	ENSP00000344057:K335E	K	-	1	0	KLF12	73187530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.978000	0.88095	2.216000	0.71823	0.533000	0.62120	AAG		0.537	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		C	74289529	T	C	74289529	3	2	191	1	0	0	0	0	1	0	0	0	8340	1792	62	4	213	4	KLF12	13	74289529	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	27661748	74289529	40880349	98	11036											
MYCBP2	23077	genome.wustl.edu	37	13	77629819	77629819	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr13:77629819C>G	ENST00000544440.2	-	80	13424	c.13407G>C	c.(13405-13407)atG>atC	p.M4469I	MYCBP2_ENST00000407578.2_Missense_Mutation_p.M4507I|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M4469I					MYC binding protein 2, E3 ubiquitin protein ligase									p.M4469I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTCCAATCTCATTAAGGCTT	0.348																																																1	Substitution - Missense(1)	ovary(1)	13											122	93	103					13																	77629819		2203	4300	6503	76527820	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13407G>C	13.37:g.77629819C>G	ENSP00000444596:p.Met4469Ile		76527820		Missense_Mutation	SNP	ENST00000544440.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.596094|3.596094	0.66332|0.66332	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48003|0.48003	0.1476|0.1476	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|P	.|0.35872	.|0.525	.|P	.|0.45428	.|0.48	T|T	0.52253|0.52253	-0.8600|-0.8600	5|10	.|0.87932	.|D	.|0	.|.	18.7211|18.7211	0.91694|0.91694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4469	.|O75592	.|MYCB2_HUMAN	Q|I	890|4469;4507;4469	.|ENSP00000349892:M4469I;ENSP00000384288:M4507I;ENSP00000444596:M4469I	.|ENSP00000349892:M4469I	E|M	-|-	1|3	0|0	MYCBP2|MYCBP2	76527820|76527820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.314000|7.314000	0.78988|0.78988	2.637000|2.637000	0.89404|0.89404	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77629819	C	G	77629819	3	3	191	1	0	0	0	0	1	0	0	0	10018	826	29	3	531	3	MYCBP2	13	77629819	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	3340290	77629819	37540059	99	11037											
POU4F1	5457	genome.wustl.edu	37	13	79175768	79175768	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr13:79175768C>G	ENST00000377208.5	-	2	1253	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	348					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.E348Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTGAAGAGCTCAGGCTTGTTC	0.662																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)											1	Substitution - Missense(1)	ovary(1)	13											30	32	31					13																	79175768		2203	4300	6503	78073769	SO:0001583	missense	5457			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"Homeoboxes / POU class"	9218	protein-coding gene	gene with protein product		601632	"POU domain class 4, transcription factor 1"	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1042G>C	13.37:g.79175768C>G	ENSP00000366413:p.Glu348Gln		78073769	Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552654	0.65425	.	.	ENSG00000152192	ENST00000377208	D	0.85171	-1.95	4.14	4.14	0.48551	Homeodomain-related (1);Homeodomain-like (1);	0.180276	0.47852	D	0.000220	D	0.84506	0.5487	L	0.50847	1.595	0.49798	D	0.999821	P	0.45044	0.849	P	0.45377	0.478	D	0.86933	0.2074	10	0.62326	D	0.03	.	16.4369	0.83878	0.0:1.0:0.0:0.0	.	348	Q01851	PO4F1_HUMAN	Q	348	ENSP00000366413:E348Q	ENSP00000366413:E348Q	E	-	1	0	POU4F1	78073769	1.000000	0.71417	0.976000	0.42696	0.977000	0.68977	7.621000	0.83083	2.046000	0.60703	0.499000	0.49734	GAG		0.662	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			G	79175768	C	G	79175768	3	3	191	1	0	0	0	0	1	0	0	0	12278	835	29	3	221	3	POU4F1	13	79175768	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	1545949	79175768	35994110	100	11038											
OR11H4	390442	genome.wustl.edu	37	14	20711205	20711205	+	Silent	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr14:20711205C>T	ENST00000315409.2	+	1	308	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S85S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GGTATGTGTCCTCCACTATTC	0.453																																																1	Substitution - coding silent(1)	ovary(1)	14											168	162	164					14																	20711205		2203	4300	6503	19781045	SO:0001819	synonymous_variant	390442				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.255C>T	14.37:g.20711205C>T			19781045	B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	CCDS32034.1																																																																																				0.453	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			T	20711205	C	T	20711205	2	4	191	1	0	0	0	0	0	0	0	1	10928	668	24	2		2	OR11H4	14	20711205	Silent	SNP	C	TCGA-23-1124-01A-01W-0488-09		20711205	86638335	101	11039											
OTX2	5015	genome.wustl.edu	37	14	57269021	57269021	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr14:57269021T>G	ENST00000555006.1	-	4	710	c.302A>C	c.(301-303)cAg>cCg	p.Q101P	OTX2_ENST00000408990.3_Missense_Mutation_p.Q101P|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000339475.5_Missense_Mutation_p.Q109P			P32243	OTX2_HUMAN	orthodenticle homeobox 2	101	Poly-Gln.				axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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 positive regulation of transcription (GO:0001077)	p.Q109P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCTCCATTCTGCTGTTGTTG	0.448																																																1	Substitution - Missense(1)	ovary(1)	14											107	110	109					14																	57269021		2203	4300	6503	56338774	SO:0001583	missense	5015			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.302A>C	14.37:g.57269021T>G	ENSP00000452336:p.Gln101Pro		56338774	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843487	0.51057	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.92048	-2.79;-2.79;-2.79;-2.84;-2.96	5.78	5.78	0.91487	.	0.000000	0.40554	N	0.001076	D	0.92227	0.7535	M	0.65320	2	0.80722	D	1	P;P	0.52577	0.954;0.824	P;B	0.47470	0.548;0.327	D	0.92436	0.5958	10	0.52906	T	0.07	.	14.9485	0.71050	0.0:0.0:0.0:1.0	.	109;101	F1T0D1;P32243	.;OTX2_HUMAN	P	109;101;101;109;101	ENSP00000343819:Q109P;ENSP00000386185:Q101P;ENSP00000452336:Q101P;ENSP00000451357:Q109P;ENSP00000451272:Q101P	ENSP00000343819:Q109P	Q	-	2	0	OTX2	56338774	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.040000	0.89188	2.212000	0.71576	0.374000	0.22700	CAG		0.448	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		G	57269021	T	G	57269021	3	3	191	1	0	0	0	0	1	0	0	0	11321	1580	55	5	571	5	OTX2	14	57269021	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	36557816	57269021	50080519	102	11040											
CCDC88C	440193	genome.wustl.edu	37	14	91779753	91779753	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr14:91779753G>C	ENST00000389857.6	-	15	2493	c.2407C>G	c.(2407-2409)Ctg>Gtg	p.L803V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	803					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.L803V(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGGGCCTCCAGGTCCCGCCGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	14											13	15	14					14																	91779753		2060	4196	6256	90849506	SO:0001583	missense	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2407C>G	14.37:g.91779753G>C	ENSP00000374507:p.Leu803Val		90849506	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004063	0.35320	.	.	ENSG00000015133	ENST00000389857	T	0.18960	2.18	5.03	4.13	0.48395	.	0.189754	0.25324	U	0.031495	T	0.23370	0.0565	M	0.68317	2.08	0.80722	D	1	P	0.40515	0.719	B	0.41135	0.348	T	0.01670	-1.1299	10	0.42905	T	0.14	-12.8865	7.7863	0.29093	0.2371:0.0:0.7629:0.0	.	803	Q9P219	DAPLE_HUMAN	V	803	ENSP00000374507:L803V	ENSP00000374507:L803V	L	-	1	2	CCDC88C	90849506	0.737000	0.28175	1.000000	0.80357	0.987000	0.75469	0.409000	0.21082	2.338000	0.79540	0.561000	0.74099	CTG		0.672	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		C	91779753	G	C	91779753	3	2	191	1	0	0	0	0	1	0	0	0	2865	991	35	3	3743	3	CCDC88C	14	91779753	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	34510732	91779753	15569787	103	11041											
DDX24	57062	genome.wustl.edu	37	14	94528821	94528821	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr14:94528821C>G	ENST00000330836.5	-	3	996	c.865G>C	c.(865-867)Ggc>Cgc	p.G289R	DDX24_ENST00000544005.1_Missense_Mutation_p.G39R|DDX24_ENST00000555054.1_Missense_Mutation_p.G246R	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	289	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.G289R(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCAGCCTTGCCTGGTGATCTA	0.552																																																1	Substitution - Missense(1)	ovary(1)	14											131	107	115					14																	94528821		2203	4300	6503	93598574	SO:0001583	missense	57062			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.865G>C	14.37:g.94528821C>G	ENSP00000328690:p.Gly289Arg		93598574	E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	9.602	1.128839	0.21041	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	T;T;T	0.03152	4.08;4.03;4.08	4.1	-8.21	0.01041	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	1.044510	0.07473	N	0.902534	T	0.02688	0.0081	L	0.38175	1.15	0.09310	N	1	B	0.21688	0.059	B	0.24974	0.057	T	0.43702	-0.9375	10	0.39692	T	0.17	-10.0209	3.6214	0.08097	0.1147:0.4143:0.1108:0.3602	.	289	Q9GZR7	DDX24_HUMAN	R	289;39;234;246;246	ENSP00000328690:G289R;ENSP00000440623:G39R;ENSP00000452145:G246R	ENSP00000328690:G289R	G	-	1	0	DDX24	93598574	0.000000	0.05858	0.000000	0.03702	0.240000	0.25518	-0.748000	0.04818	-1.659000	0.01488	-0.367000	0.07326	GGC		0.552	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		G	94528821	C	G	94528821	3	3	191	1	0	0	0	0	1	0	0	0	4351	681	24	3	1742	3	DDX24	14	94528821	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	2749068	94528821	12820719	104	11042											
BDKRB2	624	genome.wustl.edu	37	14	96707746	96707746	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr14:96707746A>T	ENST00000306005.3	+	3	1277	c.1081A>T	c.(1081-1083)Att>Ttt	p.I361F	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.I361F|BDKRB2_ENST00000539359.1_Missense_Mutation_p.I334F|BDKRB2_ENST00000542454.2_Missense_Mutation_p.I334F	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	361					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.I361F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GTCAGAACCCATTCAGATGGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	14											57	56	57					14																	96707746		2203	4300	6503	95777499	SO:0001583	missense	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.1081A>T	14.37:g.96707746A>T	ENSP00000307713:p.Ile361Phe		95777499		Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	A	7.098	0.573484	0.13623	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	4.68	-3.52	0.04682	.	1.243560	0.05824	N	0.616216	T	0.18882	0.0453	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.20140	-1.0284	10	0.27785	T	0.31	-4.9367	6.1658	0.20390	0.3617:0.2397:0.3986:0.0	.	361	P30411	BKRB2_HUMAN	F	334;361;361;334	ENSP00000439459:I334F;ENSP00000450482:I361F;ENSP00000307713:I361F;ENSP00000438376:I334F	ENSP00000307713:I361F	I	+	1	0	BDKRB2	95777499	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	-0.207000	0.09384	-0.991000	0.03476	0.402000	0.26972	ATT		0.572	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			T	96707746	A	T	96707746	3	4	191	1	0	0	0	0	1	0	0	0	1393	217	8	5	1087	5	BDKRB2	14	96707746	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	2178925	96707746	10641794	105	11043											
CYFIP1	23191	genome.wustl.edu	37	15	22969246	22969246	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:22969246G>A	ENST00000313077.7	+	22	2597	c.2472G>A	c.(2470-2472)atG>atA	p.M824I	CYFIP1_ENST00000560848.1_Missense_Mutation_p.M824I|CYFIP1_ENST00000435939.2_Missense_Mutation_p.M393I	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.M824I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGACGCCATGTTCCGGGAGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	15											144	110	122					15																	22969246		2203	4300	6503	20520687	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2472G>A	15.37:g.22969246G>A	ENSP00000324549:p.Met824Ile		20520687		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541603	0.85917	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.21932	1.98;1.98	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.38175	1.15	0.80722	D	1	B;B;B	0.24651	0.065;0.108;0.035	B;B;B	0.26864	0.037;0.054;0.074	T	0.02705	-1.1121	10	0.30854	T	0.27	-37.4563	19.1873	0.93649	0.0:0.0:1.0:0.0	.	852;393;824	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	I	824;852;393	ENSP00000324549:M824I;ENSP00000405956:M393I	ENSP00000324549:M824I	M	+	3	0	CYFIP1	20520687	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.643000	0.98464	2.546000	0.85860	0.561000	0.74099	ATG		0.587	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		A	22969246	G	A	22969246	3	1	191	1	0	0	0	0	1	0	0	0	4137	1377	48	2	2935	2	CYFIP1	15	22969246	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09		22969246	79562146	106	11044											
NDNL2	56160	genome.wustl.edu	37	15	29561198	29561199	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	TC	TC	TC	AT	TC	TC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:29561198_29561199TC>AT	ENST00000332303.4	-	1	834_835	c.711_712GA>AT	c.(709-714)cgGAta>cgATta	p.I238L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	238	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GTGTGGGGTATCCGCCGGTATT	0.515																																																0			15																																								27348491	SO:0001583	missense	56160			AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.711_712delinsAT	15.37:g.29561198_29561199delinsAT	ENSP00000330694:p.Ile238Leu		27348490	Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	DNP	ENST00000332303.4	37	CCDS10023.1																																																																																				0.515	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		AT	29561199	TC	AT	29561198	3	1	191	1	0	0	0	0	1	0	0	0	10248	1435	50	5	206	5	NDNL2	15	29561198	Missense_Mutation	DNP	TC	TCGA-23-1124-01A-01W-0488-09	6591952	29561198	72970194	107	11045											
PLA2G4F	255189	genome.wustl.edu	37	15	42436294	42436294	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:42436294C>G	ENST00000382396.4	-	18	2110	c.2024G>C	c.(2023-2025)tGc>tCc	p.C675S	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.C677S			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	675	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.C675S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGGTACAGGCAGTCCCGCAT	0.577																																																1	Substitution - Missense(1)	ovary(1)	15											94	80	85					15																	42436294		2203	4299	6502	40223586	SO:0001583	missense	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2024G>C	15.37:g.42436294C>G	ENSP00000371833:p.Cys675Ser		40223586	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195540	0.22037	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.08546	3.08;3.08	5.58	1.4	0.22301	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.439557	0.22584	N	0.058167	T	0.03220	0.0094	N	0.08118	0	0.20403	N	0.999909	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.43343	-0.9397	10	0.20519	T	0.43	-7.1612	3.9648	0.09426	0.1151:0.5871:0.1067:0.1911	.	462;675	A2RRC4;Q68DD2	.;PA24F_HUMAN	S	671;677;675;675	ENSP00000380442:C677S;ENSP00000371833:C675S	ENSP00000290497:C671S	C	-	2	0	PLA2G4F	40223586	0.000000	0.05858	0.983000	0.44433	0.885000	0.51271	-0.476000	0.06591	0.265000	0.21872	0.609000	0.83330	TGC		0.577	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		G	42436294	C	G	42436294	3	3	191	1	0	0	0	0	1	0	0	0	12006	710	25	3	537	3	PLA2G4F	15	42436294	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	12875096	42436294	60095098	108	11046											
DMXL2	23312	genome.wustl.edu	37	15	51795104	51795104	+	Missense_Mutation	SNP	A	A	G	rs373891521		TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:51795104A>G	ENST00000251076.5	-	17	3178	c.2891T>C	c.(2890-2892)cTt>cCt	p.L964P	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.L964P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	964						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.L964P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGCAGTTTGAAGATTGGCAAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	15											148	149	149					15																	51795104		2195	4293	6488	49582396	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2891T>C	15.37:g.51795104A>G	ENSP00000251076:p.Leu964Pro		49582396	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283289	0.80803	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.48836	0.8;0.8	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.974;0.998	T	0.67975	-0.5531	10	0.36615	T	0.2	.	15.2424	0.73480	1.0:0.0:0.0:0.0	.	964;964	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	P	964	ENSP00000251076:L964P;ENSP00000441858:L964P	ENSP00000251076:L964P	L	-	2	0	DMXL2	49582396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.698000	0.91311	1.990000	0.58119	0.524000	0.50904	CTT		0.448	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51795104	A	G	51795104	3	3	191	1	0	0	0	0	1	0	0	0	4595	72	3	4	6330	4	DMXL2	15	51795104	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	9358810	51795104	50736288	109	11047											
PLEKHO2	80301	genome.wustl.edu	37	15	65157820	65157820	+	Silent	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:65157820C>A	ENST00000323544.4	+	6	1334	c.1206C>A	c.(1204-1206)ccC>ccA	p.P402P	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	402								p.P402P(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGCGGCATCCCTTGCAGCCCA	0.637																																																1	Substitution - coding silent(1)	ovary(1)	15											55	54	54					15																	65157820		2202	4299	6501	62944873	SO:0001819	synonymous_variant	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1206C>A	15.37:g.65157820C>A			62944873	Q7L4H4|Q8WYS8	Silent	SNP	ENST00000323544.4	37	CCDS10196.1																																																																																				0.637	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		A	65157820	C	A	65157820	2	1	191	1	0	0	0	0	0	0	0	1	12085	668	24	3		3	PLEKHO2	15	65157820	Silent	SNP	C	TCGA-23-1124-01A-01W-0488-09	13362716	65157820	37373572	110	11048											
UACA	55075	genome.wustl.edu	37	15	70959142	70959142	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:70959142T>C	ENST00000322954.6	-	16	4066	c.3881A>G	c.(3880-3882)gAt>gGt	p.D1294G	UACA_ENST00000379983.2_Missense_Mutation_p.D1281G|UACA_ENST00000539319.1_Missense_Mutation_p.D1185G|UACA_ENST00000560441.1_Missense_Mutation_p.D1279G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1294					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.D1281G(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TAAGGACTTATCACATCGTTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	15											181	155	164					15																	70959142		2199	4297	6496	68746196	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3881A>G	15.37:g.70959142T>C	ENSP00000314556:p.Asp1294Gly		68746196	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062390	0.76187	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.36340	1.26;1.28;1.73	5.85	5.85	0.93711	.	0.085159	0.49916	D	0.000122	T	0.60856	0.2301	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.64063	-0.6495	10	0.72032	D	0.01	-26.0951	16.2303	0.82332	0.0:0.0:0.0:1.0	.	1185;1294;1294;1281	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	G	1294;1281;1185	ENSP00000314556:D1294G;ENSP00000369319:D1281G;ENSP00000438667:D1185G	ENSP00000314556:D1294G	D	-	2	0	UACA	68746196	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.404000	0.79996	2.233000	0.73108	0.533000	0.62120	GAT		0.343	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			C	70959142	T	C	70959142	3	2	191	1	0	0	0	0	1	0	0	0	16824	1435	50	4	385	4	UACA	15	70959142	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	5801322	70959142	31572250	111	11049											
CYP11A1	1583	genome.wustl.edu	37	15	74631650	74631650	+	Missense_Mutation	SNP	G	G	T	rs537187397	byFrequency	TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:74631650G>T	ENST00000268053.6	-	7	1318	c.1164C>A	c.(1162-1164)caC>caA	p.H388Q	CYP11A1_ENST00000419019.2_Missense_Mutation_p.H230Q|CYP11A1_ENST00000358632.4_Missense_Mutation_p.H230Q	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	388					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.H388Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CGGAGATGGGGTGAAGTCTGC	0.587																																					Esophageal Squamous(87;818 1337 4093 9268 37314)											1	Substitution - Missense(1)	ovary(1)	15											60	63	62					15																	74631650		2197	4297	6494	72418703	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1164C>A	15.37:g.74631650G>T	ENSP00000268053:p.His388Gln		72418703	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691592	0.68271	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.70516	-0.49;-0.49;-0.49	5.03	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80248	-0.1461	10	0.66056	D	0.02	-22.1762	11.296	0.49277	0.1543:0.0:0.8457:0.0	.	388	P05108	CP11A_HUMAN	Q	388;230;230;153	ENSP00000268053:H388Q;ENSP00000351455:H230Q;ENSP00000405488:H230Q	ENSP00000268053:H388Q	H	-	3	2	CYP11A1	72418703	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.330000	0.33781	1.104000	0.41587	0.549000	0.68633	CAC		0.587	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			T	74631650	G	T	74631650	3	4	191	1	0	0	0	0	1	0	0	0	4144	1252	44	3	413	3	CYP11A1	15	74631650	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	3672508	74631650	27899742	112	11050											
MPI	4351	genome.wustl.edu	37	15	75188616	75188616	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:75188616G>T	ENST00000352410.4	+	6	861	c.794G>T	c.(793-795)gGg>gTg	p.G265V	MPI_ENST00000563422.1_Missense_Mutation_p.G265V|MPI_ENST00000566377.1_Missense_Mutation_p.G265V|MPI_ENST00000535694.1_Missense_Mutation_p.G215V|MPI_ENST00000562606.1_Missense_Mutation_p.G245V|MPI_ENST00000323744.6_Missense_Mutation_p.G204V|MPI_ENST00000563786.1_Missense_Mutation_p.G245V|MPI_ENST00000564003.1_Missense_Mutation_p.G154V			P34949	MPI_HUMAN	mannose phosphate isomerase	265					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)	p.G265V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTGAAGCCTGGGGAGGCCATG	0.572																																																1	Substitution - Missense(1)	ovary(1)	15											91	81	84					15																	75188616		2197	4295	6492	72975669	SO:0001583	missense	4351				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.794G>T	15.37:g.75188616G>T	ENSP00000318318:p.Gly265Val		72975669	A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943674	0.92593	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000379693;ENST00000323744	D;D;D	0.99287	-5.69;-5.69;-5.69	5.43	5.43	0.79202	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.98786	4.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999	D	0.97120	0.9810	10	0.87932	D	0	.	18.2874	0.90119	0.0:0.0:1.0:0.0	.	154;265;204;245;265	B4DYB8;B4DFC4;P34949-2;Q8NHZ6;P34949	.;.;.;.;MPI_HUMAN	V	265;215;245;204	ENSP00000318318:G265V;ENSP00000440447:G215V;ENSP00000318192:G204V	ENSP00000318192:G204V	G	+	2	0	MPI	72975669	1.000000	0.71417	0.850000	0.33497	0.994000	0.84299	9.202000	0.95026	2.566000	0.86566	0.555000	0.69702	GGG		0.572	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			T	75188616	G	T	75188616	3	4	191	1	0	0	0	0	1	0	0	0	9729	1232	43	3	816	3	MPI	15	75188616	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	556966	75188616	27342776	113	11051											
AKAP13	11214	genome.wustl.edu	37	15	86228052	86228052	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:86228052G>T	ENST00000394518.2	+	16	5332	c.5237G>T	c.(5236-5238)aGt>aTt	p.S1746I	AKAP13_ENST00000361243.2_Missense_Mutation_p.S1750I|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1746					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.S1750I(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACAAAAGTCAGTCGTACATTC	0.393																																					Melanoma(94;603 1453 3280 32295 32951)											1	Substitution - Missense(1)	ovary(1)	15											132	120	124					15																	86228052		2202	4299	6501	84029056	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5237G>T	15.37:g.86228052G>T	ENSP00000378026:p.Ser1746Ile		84029056	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830294	0.91036	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.13901	2.55;2.6	5.88	5.88	0.94601	.	.	.	.	.	T	0.39036	0.1063	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.04242	-1.0966	9	0.87932	D	0	.	18.8019	0.92022	0.0:0.0:1.0:0.0	.	1728;1746;1750	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	I	1750;1746;1749;1727;368	ENSP00000354718:S1750I;ENSP00000378026:S1746I	ENSP00000354718:S1750I	S	+	2	0	AKAP13	84029056	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.686000	0.84128	2.779000	0.95612	0.650000	0.86243	AGT		0.393	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		T	86228052	G	T	86228052	3	4	191	1	0	0	0	0	1	0	0	0	449	1029	36	3	5365	3	AKAP13	15	86228052	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	11039436	86228052	16303340	114	11052											
SPATA8	145946	genome.wustl.edu	37	15	97328234	97328234	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:97328234T>C	ENST00000328504.3	+	3	472	c.205T>C	c.(205-207)Tgt>Cgt	p.C69R	SPATA8-AS1_ENST00000558722.1_RNA|SPATA8_ENST00000558553.1_Missense_Mutation_p.L28P	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	69								p.C69R(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			AGAGAACAGCTGTTCTCACGG	0.453																																																1	Substitution - Missense(1)	ovary(1)	15											136	129	131					15																	97328234		2197	4298	6495	95129238	SO:0001583	missense	145946			AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.205T>C	15.37:g.97328234T>C	ENSP00000328149:p.Cys69Arg		95129238	Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	T	6.999	0.554483	0.13374	.	.	ENSG00000185594	ENST00000328504	T	0.33216	1.42	3.03	2.09	0.27110	.	.	.	.	.	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.30068	0.267	B	0.27380	0.079	T	0.18587	-1.0332	9	0.87932	D	0	.	7.286	0.26340	0.0:0.0:0.719:0.281	.	69	Q6RVD6	SPAT8_HUMAN	R	69	ENSP00000328149:C69R	ENSP00000328149:C69R	C	+	1	0	SPATA8	95129238	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-0.181000	0.09740	0.831000	0.34780	-0.644000	0.03951	TGT		0.453	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		C	97328234	T	C	97328234	3	2	191	1	0	0	0	0	1	0	0	0	15017	1580	55	4	215	4	SPATA8	15	97328234	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	11100182	97328234	5203158	115	11053											
SYNM	23336	genome.wustl.edu	37	15	99672483	99672483	+	Silent	SNP	A	A	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr15:99672483A>G	ENST00000336292.6	+	5	4035	c.3915A>G	c.(3913-3915)acA>acG	p.T1305T	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1306	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAGCAGCACATCCATCAGGC	0.537																																					Pancreas(125;1071 1762 21750 40003 40381)											0			15											146	152	150					15																	99672483		2117	4239	6356	97490006	SO:0001819	synonymous_variant	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3915A>G	15.37:g.99672483A>G			97490006	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37																																																																																					0.537	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		G	99672483	A	G	99672483	2	3	191	1	0	0	0	0	0	0	0	1	15455	204	8	4		4	SYNM	15	99672483	Silent	SNP	A	TCGA-23-1124-01A-01W-0488-09	2344249	99672483	2858909	116	11054											
ZNF263	10127	genome.wustl.edu	37	16	3334004	3334004	+	Silent	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr16:3334004C>T	ENST00000219069.5	+	1	1062	c.186C>T	c.(184-186)ctC>ctT	p.L62L	ZNF263_ENST00000574253.1_Silent_p.L62L|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000573578.1_Silent_p.L62L	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	62	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L62L(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TCAGCCGGCTCCAAGAGCTTT	0.647																																																1	Substitution - coding silent(1)	ovary(1)	16											47	52	50					16																	3334004		2197	4300	6497	3274005	SO:0001819	synonymous_variant	10127			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.186C>T	16.37:g.3334004C>T			3274005	B2R634|O43387|Q96H95	Silent	SNP	ENST00000219069.5	37	CCDS10499.1																																																																																				0.647	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			T	3334004	C	T	3334004	2	4	191	1	0	0	0	0	0	0	0	1	17803	842	30	2		2	ZNF263	16	3334004	Silent	SNP	C	TCGA-23-1124-01A-01W-0488-09		3334004	87020749	117	11055											
USP7	7874	genome.wustl.edu	37	16	9024254	9024254	+	Splice_Site	SNP	G	G	C	rs370070575		TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr16:9024254G>C	ENST00000344836.4	-	2	278	c.80C>G	c.(79-81)gCg>gGg	p.A27G	USP7_ENST00000535863.1_5'UTR|USP7_ENST00000381886.4_Splice_Site_p.A11G|USP7_ENST00000566224.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	27	Interaction with TSPYL5.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A27G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGTATCTCCCGCTTTAAAGAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	16											97	74	82					16																	9024254		2197	4300	6497	8931755	SO:0001630	splice_region_variant	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.80-1C>G	16.37:g.9024254G>C			8931755	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334036	0.60853	.	.	ENSG00000187555	ENST00000344836;ENST00000381886	T	0.07114	3.22	5.59	5.59	0.84812	.	0.046972	0.85682	D	0.000000	T	0.07683	0.0193	N	0.19112	0.55	0.80722	D	1	B;B	0.20261	0.0;0.043	B;B	0.15052	0.0;0.012	T	0.39057	-0.9632	10	0.24483	T	0.36	.	19.5934	0.95525	0.0:0.0:1.0:0.0	.	27;11	Q93009;B7Z815	UBP7_HUMAN;.	G	27;35	ENSP00000343535:A27G	ENSP00000343535:A27G	A	-	2	0	USP7	8931755	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	9.719000	0.98760	2.635000	0.89317	0.467000	0.42956	GCG		0.398	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		Missense_Mutation	C	9024254	G	C	9024254	5	2	191	1	0	0	0	0	0	0	1	0	17088	1101	38	3	3348	3	USP7	16	9024254	Splice_Site	SNP	G	TCGA-23-1124-01A-01W-0488-09	5690250	9024254	81330499	118	11056											
MYH11	4629	genome.wustl.edu	37	16	15841481	15841481	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr16:15841481A>G	ENST00000300036.5	-	19	2466	c.2357T>C	c.(2356-2358)aTc>aCc	p.I786T	MYH11_ENST00000452625.2_Missense_Mutation_p.I793T|MYH11_ENST00000396324.3_Missense_Mutation_p.I793T|MYH11_ENST00000576790.2_Missense_Mutation_p.I786T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	786	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.I786T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GACATCGGTGATCTTCAAATC	0.507			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	1	Substitution - Missense(1)	ovary(1)	16											120	110	113					16																	15841481		2197	4300	6497	15748982	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2357T>C	16.37:g.15841481A>G	ENSP00000300036:p.Ile786Thr		15748982	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126877	0.77549	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.46	5.46	0.80206	.	0.062064	0.64402	D	0.000004	D	0.83275	0.5219	M	0.78637	2.42	0.80722	D	1	D;D;P;D;P	0.64830	0.994;0.987;0.932;0.987;0.932	D;D;D;D;D	0.67900	0.933;0.954;0.954;0.938;0.933	D	0.85731	0.1331	10	0.87932	D	0	.	14.7206	0.69302	1.0:0.0:0.0:0.0	.	793;786;793;786;793	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	786;786;793;793;793	ENSP00000300036:I786T;ENSP00000345136:I786T;ENSP00000379616:I793T;ENSP00000407821:I793T	ENSP00000300036:I786T	I	-	2	0	MYH11	15748982	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.339000	0.96797	2.075000	0.62263	0.459000	0.35465	ATC		0.507	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		G	15841481	A	G	15841481	3	3	191	1	0	0	0	0	1	0	0	0	10031	333	12	4	3688	4	MYH11	16	15841481	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	6817227	15841481	74513272	119	11057											
PRKCB	5579	genome.wustl.edu	37	16	24231294	24231294	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr16:24231294G>A	ENST00000321728.7	+	17	2051	c.1876G>A	c.(1876-1878)Gac>Aac	p.D626N	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	626	AGC-kinase C-terminal.				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)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AGACAAGAGAGACACCTCCAA	0.453																																																0			16											95	87	90					16																	24231294		2197	4300	6497	24138795	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.1876G>A	16.37:g.24231294G>A	ENSP00000318315:p.Asp626Asn		24138795	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577091	0.65878	.	.	ENSG00000166501	ENST00000321728	T	0.76578	-1.03	5.9	5.9	0.94986	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	D	0.84804	0.5553	M	0.93507	3.425	0.80722	D	1	B	0.14805	0.011	B	0.19148	0.024	T	0.82055	-0.0647	9	0.45353	T	0.12	.	19.2669	0.93990	0.0:0.0:1.0:0.0	.	626	P05771	KPCB_HUMAN	N	626	ENSP00000318315:D626N	ENSP00000318315:D626N	D	+	1	0	PRKCB	24138795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.467000	0.97671	2.798000	0.96311	0.650000	0.86243	GAC		0.453	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		A	24231294	G	A	24231294	3	1	191	1	0	0	0	0	1	0	0	0	12511	942	33	2	2105	2	PRKCB	16	24231294	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	8389813	24231294	66123459	120	11058											
SLC5A11	115584	genome.wustl.edu	37	16	24902341	24902341	+	Silent	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr16:24902341G>T	ENST00000347898.3	+	9	1438	c.816G>T	c.(814-816)ccG>ccT	p.P272P	SLC5A11_ENST00000545376.1_Silent_p.P202P|SLC5A11_ENST00000539472.1_Silent_p.P208P|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000565769.1_Silent_p.P208P|SLC5A11_ENST00000568579.1_Silent_p.P202P|SLC5A11_ENST00000424767.2_Silent_p.P237P|SLC5A11_ENST00000567758.1_Silent_p.P237P	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.P272P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TCCCGTGGCCGGGGGTCCTAT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	16											123	121	122					16																	24902341		2197	4300	6497	24809842	SO:0001819	synonymous_variant	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.816G>T	16.37:g.24902341G>T			24809842		Silent	SNP	ENST00000347898.3	37	CCDS10625.1																																																																																				0.562	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		T	24902341	G	T	24902341	2	4	191	1	0	0	0	0	0	0	0	1	14666	1103	39	3		3	SLC5A11	16	24902341	Silent	SNP	G	TCGA-23-1124-01A-01W-0488-09	671047	24902341	65452412	121	11059											
RPGRIP1L	23322	genome.wustl.edu	37	16	53726199	53726199	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr16:53726199C>A	ENST00000379925.3	-	4	358	c.308G>T	c.(307-309)gGa>gTa	p.G103V	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.G103V|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.G103V|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.G103V	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	103					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.G103V(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CACATCTCGTCCCAGCCGCTT	0.433																																																1	Substitution - Missense(1)	ovary(1)	16											166	181	176					16																	53726199		2198	4300	6498	52283700	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.308G>T	16.37:g.53726199C>A	ENSP00000369257:p.Gly103Val		52283700	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102055	0.56183	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.80304	-1.36;-1.36	5.83	5.83	0.93111	.	0.109437	0.64402	D	0.000010	D	0.87581	0.6213	L	0.54908	1.71	0.80722	D	1	D;P;D;D	0.89917	0.985;0.911;0.999;1.0	P;B;D;D	0.80764	0.493;0.376;0.992;0.994	D	0.83394	0.0019	10	0.23891	T	0.37	-23.5607	20.1374	0.98035	0.0:1.0:0.0:0.0	.	103;103;103;103	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	V	103	ENSP00000369257:G103V;ENSP00000262135:G103V	ENSP00000262135:G103V	G	-	2	0	RPGRIP1L	52283700	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.873000	0.56093	2.763000	0.94921	0.563000	0.77884	GGA		0.433	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		A	53726199	C	A	53726199	3	1	191	1	0	0	0	0	1	0	0	0	13553	855	30	3	3735	3	RPGRIP1L	16	53726199	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	28823858	53726199	36628554	122	11060											
CDH16	1014	genome.wustl.edu	37	16	66946665	66946665	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr16:66946665G>C	ENST00000299752.4	-	10	1377	c.1184C>G	c.(1183-1185)cCc>cGc	p.P395R	CDH16_ENST00000568632.1_Missense_Mutation_p.P298R|CDH16_ENST00000394055.3_Missense_Mutation_p.P395R|CDH16_ENST00000570262.1_Missense_Mutation_p.P315R|CDH16_ENST00000565796.1_Missense_Mutation_p.P395R	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.P395R(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCTGAAGTGGGGTCCACCTG	0.642																																																1	Substitution - Missense(1)	ovary(1)	16											65	63	64					16																	66946665		2200	4300	6500	65504166	SO:0001583	missense	1014			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1184C>G	16.37:g.66946665G>C	ENSP00000299752:p.Pro395Arg		65504166	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	0.532	-0.857417	0.02630	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53640	0.61;0.61	4.98	2.98	0.34508	Cadherin (4);Cadherin-like (1);	0.863790	0.10479	N	0.669796	T	0.37376	0.1001	L	0.39020	1.185	0.09310	N	1	B;B;B	0.33826	0.017;0.427;0.01	B;B;B	0.37198	0.008;0.243;0.02	T	0.20840	-1.0263	10	0.20046	T	0.44	-0.2234	8.3325	0.32195	0.1959:0.0:0.8041:0.0	.	395;395;395	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	R	395;395;359	ENSP00000377619:P395R;ENSP00000299752:P395R	ENSP00000299752:P395R	P	-	2	0	CDH16	65504166	0.032000	0.19561	0.002000	0.10522	0.397000	0.30659	1.398000	0.34554	1.243000	0.43853	0.561000	0.74099	CCC		0.642	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		C	66946665	G	C	66946665	3	2	191	1	0	0	0	0	1	0	0	0	3101	1232	43	3	1341	3	CDH16	16	66946665	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	13220466	66946665	23408088	123	11061											
MBTPS1	8720	genome.wustl.edu	37	16	84127339	84127339	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr16:84127339G>T	ENST00000343411.3	-	5	1208	c.713C>A	c.(712-714)aCc>aAc	p.T238N	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	238	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.T238N(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGCTCGTTGGTCCAGTTGGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	16											174	130	145					16																	84127339		2200	4300	6500	82684840	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.713C>A	16.37:g.84127339G>T	ENSP00000344223:p.Thr238Asn		82684840	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469790	0.96274	.	.	ENSG00000140943	ENST00000343411	T	0.43688	0.94	5.44	5.44	0.79542	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	M	0.66378	2.025	0.80722	D	1	P	0.49862	0.929	P	0.58391	0.838	T	0.63937	-0.6524	10	0.72032	D	0.01	-30.9746	19.2669	0.93990	0.0:0.0:1.0:0.0	.	238	Q14703	MBTP1_HUMAN	N	238	ENSP00000344223:T238N	ENSP00000344223:T238N	T	-	2	0	MBTPS1	82684840	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.605000	0.98321	2.549000	0.85964	0.655000	0.94253	ACC		0.488	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		T	84127339	G	T	84127339	3	4	191	1	0	0	0	0	1	0	0	0	9361	1261	44	3	2521	3	MBTPS1	16	84127339	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	17180674	84127339	6227414	124	11062											
TRPV3	162514	genome.wustl.edu	37	17	3427556	3427556	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr17:3427556G>A	ENST00000576742.1	-	13	2000	c.1679C>T	c.(1678-1680)gCg>gTg	p.A560V	TRPV3_ENST00000301365.4_Missense_Mutation_p.A560V|TRPV3_ENST00000572519.1_Missense_Mutation_p.A560V	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	560					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.A560V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GAGCATGTTCGCCCAGCCCAG	0.572																																																1	Substitution - Missense(1)	ovary(1)	17											127	116	119					17																	3427556		2203	4300	6503	3374306	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1679C>T	17.37:g.3427556G>A	ENSP00000461518:p.Ala560Val		3374306	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	g	7.892	0.732628	0.15507	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.84442	-1.85	5.23	5.23	0.72850	.	0.164522	0.42682	D	0.000677	T	0.63768	0.2539	N	0.11427	0.14	0.45439	D	0.998411	B;B;P;B;P;P;P	0.48834	0.255;0.107;0.843;0.107;0.632;0.916;0.897	B;B;B;B;B;B;B	0.35312	0.074;0.032;0.144;0.032;0.197;0.2;0.127	T	0.70655	-0.4812	10	0.05721	T	0.95	-13.3407	11.6278	0.51156	0.0814:0.0:0.9185:0.0	.	544;544;560;544;560;560;560	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	V	560;560;544	ENSP00000301365:A560V	ENSP00000301365:A560V	A	-	2	0	TRPV3	3374306	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	3.399000	0.52586	2.634000	0.89283	0.563000	0.77884	GCG		0.572	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		A	3427556	G	A	3427556	3	1	191	1	0	0	0	0	1	0	0	0	16597	1087	38	1	717	1	TRPV3	17	3427556	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09		3427556	77767654	125	11063											
TP53	7157	genome.wustl.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	C	G	rs371524413		TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr17:7578463C>G	ENST00000269305.4	-	5	656	c.467G>C	c.(466-468)cGc>cCc	p.R156P	TP53_ENST00000359597.4_Missense_Mutation_p.R156P|TP53_ENST00000420246.2_Missense_Mutation_p.R156P|TP53_ENST00000455263.2_Missense_Mutation_p.R156P|TP53_ENST00000413465.2_Missense_Mutation_p.R156P|TP53_ENST00000445888.2_Missense_Mutation_p.R156P|TP53_ENST00000574684.1_5'Flank	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	156	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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)	GGCGCGGACGCGGGTGCCGGG	0.612		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"	72	Substitution - Missense(37)|Deletion - In frame(11)|Deletion - Frameshift(10)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(1)	breast(9)|lung(8)|ovary(8)|stomach(7)|upper_aerodigestive_tract(6)|large_intestine(5)|skin(5)|bone(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|kidney(2)|liver(2)|oesophagus(2)|biliary_tract(1)|prostate(1)|pancreas(1)	17	GRCh37	CM984589	TP53	M							50	52	51					17																	7578463		2203	4300	6503	7519188	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.467G>C	17.37:g.7578463C>G	ENSP00000269305:p.Arg156Pro		7519188	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076061	0.36662	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	5.47	3.45	0.39498	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.599272	0.17934	N	0.157074	D	0.99576	0.9847	M	0.73598	2.24	0.09310	N	1	D;D;D;D;D;D;D	0.89917	1.0;0.988;0.96;0.985;0.982;0.996;1.0	D;P;P;D;P;D;D	0.74674	0.984;0.887;0.614;0.924;0.902;0.953;0.958	D	0.99552	1.0966	10	0.54805	T	0.06	-1.0137	6.8349	0.23931	0.3112:0.607:0.0:0.0817	.	117;156;156;63;156;156;156	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	156;156;156;156;156;156;145;63;24;63;24;156	ENSP00000410739:R156P;ENSP00000352610:R156P;ENSP00000269305:R156P;ENSP00000398846:R156P;ENSP00000391127:R156P;ENSP00000391478:R156P;ENSP00000425104:R24P;ENSP00000423862:R63P;ENSP00000424104:R156P	ENSP00000269305:R156P	R	-	2	0	TP53	7519188	0.333000	0.24731	0.002000	0.10522	0.138000	0.21146	4.631000	0.61304	0.779000	0.33543	0.563000	0.77884	CGC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578463	C	G	7578463	3	3	191	1	0	0	0	0	1	0	0	0	16381	768	27	3	831	3	TP53	17	7578463	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	4150907	7578463	73616747	126	11064											
CSF3	1440	genome.wustl.edu	37	17	38171943	38171943	+	Splice_Site	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr17:38171943G>A	ENST00000225474.2	+	2	71		c.e2-1		RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000577675.1_Missense_Mutation_p.A10T|CSF3_ENST00000394149.3_Splice_Site|CSF3_ENST00000394148.3_Splice_Site|CSF3_ENST00000331769.2_Missense_Mutation_p.A10T			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)						cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)	p.A10T(1)		endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				TCTGTCCCCAGCCCTGCAGCT	0.647																																																1	Substitution - Missense(1)	ovary(1)	17											22	22	22					17																	38171943		2198	4298	6496	35425469	SO:0001630	splice_region_variant	1440				CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"Endogenous ligands"	2438	protein-coding gene	gene with protein product	"granulocyte colony stimulating factor", "pluripoietin", "filgrastim", "lenograstim"	138970	"chromosome 17 open reading frame 33"	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.41-1G>A	17.37:g.38171943G>A			35425469	A8MXR7	Splice_Site	SNP	ENST00000225474.2	37	CCDS11357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.17|18.17	3.564863|3.564863	0.65651|0.65651	.|.	.|.	ENSG00000108342|ENSG00000108342	ENST00000394149;ENST00000225474;ENST00000394148|ENST00000331769	.|T	.|0.34859	.|1.34	5.72|5.72	4.73|4.73	0.59995|0.59995	.|.	.|.	.|.	.|.	.|.	.|T	.|0.29556	.|0.0737	.|.	.|.	.|.	0.31018|0.31018	N|N	0.718419|0.718419	.|P;B	.|0.34522	.|0.455;0.281	.|B;B	.|0.30029	.|0.11;0.06	.|T	.|0.32402	.|-0.9908	.|8	.|0.56958	.|D	.|0.05	.|.	11.8547|11.8547	0.52431|0.52431	0.0:0.0:0.8254:0.1746|0.0:0.0:0.8254:0.1746	.|.	.|10;10	.|B4DNY7;Q8N4W3	.|.;.	.|T	-1|10	.|ENSP00000327766:A10T	.|ENSP00000327766:A10T	.|A	+|+	.|1	.|0	CSF3|CSF3	35425469|35425469	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.956000|0.956000	0.61745|0.61745	3.553000|3.553000	0.53713|0.53713	1.360000|1.360000	0.45960|0.45960	0.561000|0.561000	0.74099|0.74099	.|GCC		0.647	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220	Intron	A	38171943	G	A	38171943	5	1	191	1	0	0	0	0	0	0	1	0	3936	985	34	2	46	2	CSF3	17	38171943	Splice_Site	SNP	G	TCGA-23-1124-01A-01W-0488-09	30593480	38171943	43023267	127	11065											
C17orf71	55181	genome.wustl.edu	37	17	57289008	57289008	+	Silent	SNP	T	T	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr17:57289008T>C	ENST00000543872.2	+	2	1860	c.1596T>C	c.(1594-1596)ctT>ctC	p.L532L	SMG8_ENST00000300917.5_Silent_p.L532L|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.L532L|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	532				L -> R (in Ref. 1; AAL83913). {ECO:0000305}.	gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.L532L(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCCAGGCTCTTCGAGTGTACA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	17											85	77	80					17																	57289008		2203	4300	6503	54643790	SO:0001819	synonymous_variant	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1596T>C	17.37:g.57289008T>C			54643790	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	CCDS11615.1																																																																																				0.458	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		C	57289008	T	C	57289008	2	2	191	1	0	0	0	0	0	0	0	1	1878	1770	62	4		4	C17orf71	17	57289008	Silent	SNP	T	TCGA-23-1124-01A-01W-0488-09	19117065	57289008	23906202	128	11066											
OTOP2	92736	genome.wustl.edu	37	17	72926820	72926820	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr17:72926820A>G	ENST00000580223.1	+	5	1120	c.1090A>G	c.(1090-1092)Acg>Gcg	p.T364A	OTOP2_ENST00000331427.4_Missense_Mutation_p.T364A			Q7RTS6	OTOP2_HUMAN	otopetrin 2	364						integral component of membrane (GO:0016021)		p.T364A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TAAGAACCCCACGCGCACTCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	17											66	61	62					17																	72926820		2203	4300	6503	70438415	SO:0001583	missense	92736			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1090A>G	17.37:g.72926820A>G	ENSP00000463837:p.Thr364Ala		70438415		Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257240	0.59321	.	.	ENSG00000183034	ENST00000331427	T	0.21191	2.02	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	L	0.37697	1.125	0.54753	D	0.999985	D	0.76494	0.999	D	0.74023	0.982	T	0.04347	-1.0958	10	0.15499	T	0.54	-9.5329	15.592	0.76537	1.0:0.0:0.0:0.0	.	364	Q7RTS6	OTOP2_HUMAN	A	364	ENSP00000332528:T364A	ENSP00000332528:T364A	T	+	1	0	OTOP2	70438415	1.000000	0.71417	0.972000	0.41901	0.426000	0.31534	6.230000	0.72301	2.086000	0.62901	0.374000	0.22700	ACG		0.612	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		G	72926820	A	G	72926820	3	3	191	1	0	0	0	0	1	0	0	0	11306	159	6	4	1108	4	OTOP2	17	72926820	Missense_Mutation	SNP	A	TCGA-23-1124-01A-01W-0488-09	15637812	72926820	8268390	129	11067											
MFSD11	79157	genome.wustl.edu	37	17	74774349	74774349	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr17:74774349G>T	ENST00000588460.1	+	13	3307	c.1265G>T	c.(1264-1266)gGg>gTg	p.G422V	MFSD11_ENST00000336509.4_Missense_Mutation_p.G422V|MFSD11_ENST00000590514.1_Missense_Mutation_p.G422V|MFSD11_ENST00000593181.1_Missense_Mutation_p.G370V|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Missense_Mutation_p.G422V|MFSD11_ENST00000355954.3_Missense_Mutation_p.G370V	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	422						integral component of membrane (GO:0016021)		p.G422V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GTGATATTTGGGTTTTTTGGA	0.463																																																1	Substitution - Missense(1)	ovary(1)	17											185	170	175					17																	74774349		2203	4300	6503	72285944	SO:0001583	missense	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1265G>T	17.37:g.74774349G>T	ENSP00000464932:p.Gly422Val		72285944	O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000588460.1	37	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328615	0.81690	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.80304	-1.36;-1.36	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.042696	0.85682	D	0.000000	D	0.86640	0.5981	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.959	T	0.82824	-0.0266	10	0.29301	T	0.29	-15.2757	20.2544	0.98414	0.0:0.0:1.0:0.0	.	370;422	O43934-2;O43934	.;MFS11_HUMAN	V	422;370	ENSP00000337240:G422V;ENSP00000348225:G370V	ENSP00000337240:G422V	G	+	2	0	MFSD11	72285944	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.744000	0.85034	2.885000	0.99019	0.655000	0.94253	GGG		0.463	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		T	74774349	G	T	74774349	3	4	191	1	0	0	0	0	1	0	0	0	9529	1232	43	3	1315	3	MFSD11	17	74774349	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	1847529	74774349	6420861	130	11068											
SEC14L1	6397	genome.wustl.edu	37	17	75205535	75205535	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr17:75205535G>A	ENST00000413679.2	+	14	1891	c.1588G>A	c.(1588-1590)Gtc>Atc	p.V530I	SEC14L1_ENST00000591437.1_Missense_Mutation_p.V496I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V530I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V530I|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V530I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V496I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V530I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V530I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	530	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V530I(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GTCTGCAAGCGTCTTCAAAGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	17											79	66	70					17																	75205535		2203	4300	6503	72717130	SO:0001583	missense	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1588G>A	17.37:g.75205535G>A	ENSP00000394716:p.Val530Ile		72717130	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780767	0.31502	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (1);GOLD (2);	0.114663	0.64402	D	0.000012	T	0.37046	0.0989	N	0.24115	0.695	0.49915	D	0.999838	B;B	0.20671	0.047;0.028	B;B	0.15484	0.013;0.008	T	0.09015	-1.0694	10	0.31617	T	0.26	-47.5095	18.3308	0.90268	0.0:0.0:1.0:0.0	.	530;530	Q92503-2;Q92503	.;S14L1_HUMAN	I	530;530;530;530;530;496	ENSP00000376268:V530I;ENSP00000406030:V530I;ENSP00000390392:V530I;ENSP00000408169:V530I;ENSP00000394716:V530I;ENSP00000389838:V496I	ENSP00000376268:V530I	V	+	1	0	SEC14L1	72717130	1.000000	0.71417	0.860000	0.33809	0.348000	0.29142	5.928000	0.70088	2.553000	0.86117	0.655000	0.94253	GTC		0.622	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		A	75205535	G	A	75205535	3	1	191	1	0	0	0	0	1	0	0	0	13984	1145	40	1	1634	1	SEC14L1	17	75205535	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	431186	75205535	5989675	131	11069											
YES1	7525	genome.wustl.edu	37	18	724573	724573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr18:724573G>A	ENST00000584307.1	-	12	1653	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	YES1_ENST00000577961.1_Nonsense_Mutation_p.Q500*|YES1_ENST00000314574.4_Nonsense_Mutation_p.Q495*			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	495	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.Q495*(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGACAGCCCTGAGGGCACGGC	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	18											92	94	93					18																	724573		2203	4300	6503	714573	SO:0001587	stop_gained	7525			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1483C>T	18.37:g.724573G>A	ENSP00000462468:p.Gln495*		714573	A6NLB3|D3DUH1	Nonsense_Mutation	SNP	ENST00000584307.1	37	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	G	37	6.288145	0.97444	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.5435	0.91038	0.0:0.0:1.0:0.0	.	.	.	.	X	495	.	ENSP00000324740:Q495X	Q	-	1	0	YES1	714573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.510000	0.98004	2.468000	0.83385	0.591000	0.81541	CAG		0.418	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		A	724573	G	A	724573	4	1	191	1	0	0	0	0	0	1	0	0	17474	1299	45	2	152	2	YES1	18	724573	Nonsense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09		724573	77352675	132	11070											
TLE6	79816	genome.wustl.edu	37	19	2991957	2991957	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr19:2991957C>A	ENST00000246112.4	+	14	1562	c.1361C>A	c.(1360-1362)cCt>cAt	p.P454H	TLE6_ENST00000452088.1_Missense_Mutation_p.P331H	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	454					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.P331H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCATGAAACCTCTGGAGTAC	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											78	70	73					19																	2991957		2203	4300	6503	2942957	SO:0001583	missense	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1361C>A	19.37:g.2991957C>A	ENSP00000246112:p.Pro454His		2942957	J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009434	0.35415	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.11277	2.79;2.79	3.09	0.934	0.19477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.27313	0.0670	M	0.77820	2.39	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.70935	0.971;0.971;0.964;0.964	T	0.05666	-1.0871	9	0.72032	D	0.01	-5.884	5.3809	0.16192	0.0:0.7447:0.0:0.2553	.	454;312;331;331	C9JGZ7;Q9Y6S1;Q9H808;Q6PJM9	.;.;TLE6_HUMAN;.	H	454;454;331;331	ENSP00000246112:P454H;ENSP00000406893:P331H	ENSP00000246112:P454H	P	+	2	0	TLE6	2942957	0.919000	0.31177	0.001000	0.08648	0.025000	0.11179	1.797000	0.38804	0.345000	0.23873	0.462000	0.41574	CCT		0.567	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		A	2991957	C	A	2991957	3	1	191	1	0	0	0	0	1	0	0	0	15942	681	24	3	1411	3	TLE6	19	2991957	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09		2991957	56137026	133	11071											
NWD1	284434	genome.wustl.edu	37	19	16860175	16860175	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr19:16860175C>G	ENST00000552788.1	+	4	722	c.722C>G	c.(721-723)aCc>aGc	p.T241S	NWD1_ENST00000379808.3_Missense_Mutation_p.T241S|NWD1_ENST00000524140.2_Missense_Mutation_p.T241S|NWD1_ENST00000549814.1_Missense_Mutation_p.T241S|NWD1_ENST00000523826.1_Missense_Mutation_p.T35S|NWD1_ENST00000339803.6_Missense_Mutation_p.T106S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	241							ATP binding (GO:0005524)	p.T106S(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCCTCAAGACCCACCGCCTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											49	46	47					19																	16860175		2203	4299	6502	16721175	SO:0001583	missense	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.722C>G	19.37:g.16860175C>G	ENSP00000447224:p.Thr241Ser		16721175	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	c	0.005	-2.179247	0.00308	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57752	0.38;0.43;0.38;0.38;0.43;0.45	4.35	0.386	0.16254	.	1.231340	0.05583	N	0.573181	T	0.23289	0.0563	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.25433	-1.0132	10	0.02654	T	1	-2.4251	5.4002	0.16291	0.0:0.5537:0.0:0.4462	.	241;241;106	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	S	106;241;241;241;35;241;106	ENSP00000428579:T241S;ENSP00000447548:T241S;ENSP00000369136:T241S;ENSP00000428955:T35S;ENSP00000447224:T241S;ENSP00000340159:T106S	ENSP00000340159:T106S	T	+	2	0	NWD1	16721175	0.520000	0.26250	0.016000	0.15963	0.002000	0.02628	1.331000	0.33793	0.399000	0.25367	-0.170000	0.13304	ACC		0.607	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		G	16860175	C	G	16860175	3	3	191	1	0	0	0	0	1	0	0	0	10781	507	18	3	323	3	NWD1	19	16860175	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	13868218	16860175	42268808	134	11072											
PBX4	80714	genome.wustl.edu	37	19	19675835	19675835	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr19:19675835C>G	ENST00000251203.9	-	6	1118	c.832G>C	c.(832-834)Gag>Cag	p.E278Q		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	278					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E278Q(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						ATGGTAGCCTCTTCTTGAAAC	0.527																																																1	Substitution - Missense(1)	ovary(1)	19											338	343	342					19																	19675835		2203	4300	6503	19536835	SO:0001583	missense	80714			AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"Homeoboxes / TALE class"	13403	protein-coding gene	gene with protein product		608127	"pre-B-cell leukemia transcription factor 4"				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.832G>C	19.37:g.19675835C>G	ENSP00000251203:p.Glu278Gln		19536835	A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543930	0.45280	.	.	ENSG00000105717	ENST00000251203	D	0.83837	-1.77	3.85	2.81	0.32909	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.82600	0.5072	M	0.78049	2.395	0.58432	D	0.999998	P	0.46784	0.884	B	0.43990	0.438	T	0.82440	-0.0456	10	0.62326	D	0.03	-4.9499	9.4242	0.38570	0.0:0.892:0.0:0.108	.	278	Q9BYU1	PBX4_HUMAN	Q	278	ENSP00000251203:E278Q	ENSP00000251203:E278Q	E	-	1	0	PBX4	19536835	1.000000	0.71417	0.862000	0.33874	0.141000	0.21300	4.905000	0.63286	0.852000	0.35287	0.505000	0.49811	GAG		0.527	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			G	19675835	C	G	19675835	3	3	191	1	0	0	0	0	1	0	0	0	11495	922	32	3	304	3	PBX4	19	19675835	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	2815660	19675835	39453148	135	11073											
ZNF14	7561	genome.wustl.edu	37	19	19823201	19823201	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr19:19823201G>A	ENST00000344099.3	-	4	1027	c.889C>T	c.(889-891)Cat>Tat	p.H297Y		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	297					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.H297Y(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GTCCTTTTATGCCTTCGAAAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	19											42	42	42					19																	19823201		2203	4300	6503	19684201	SO:0001583	missense	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.889C>T	19.37:g.19823201G>A	ENSP00000340514:p.His297Tyr		19684201	B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489857	0.64074	.	.	ENSG00000105708	ENST00000344099	D	0.86769	-2.17	1.8	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94761	0.8309	H	0.96175	3.78	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85651	0.1282	9	0.87932	D	0	.	9.1514	0.36965	0.0:0.0:1.0:0.0	.	297	P17017	ZNF14_HUMAN	Y	297	ENSP00000340514:H297Y	ENSP00000340514:H297Y	H	-	1	0	ZNF14	19684201	1.000000	0.71417	0.012000	0.15200	0.946000	0.59487	6.627000	0.74258	0.977000	0.38444	0.467000	0.42956	CAT		0.373	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		A	19823201	G	A	19823201	3	1	191	1	0	0	0	0	1	0	0	0	17728	1319	46	2	1043	2	ZNF14	19	19823201	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	147366	19823201	39305782	136	11074											
FAM187B	148109	genome.wustl.edu	37	19	35719434	35719434	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr19:35719434G>T	ENST00000324675.3	-	1	198	c.150C>A	c.(148-150)caC>caA	p.H50Q		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	50						integral component of membrane (GO:0016021)		p.H50Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AATAGTACCAGTGCGCCCCCG	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											63	67	66					19																	35719434		2203	4300	6503	40411274	SO:0001583	missense	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.150C>A	19.37:g.35719434G>T	ENSP00000323355:p.His50Gln		40411274	Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	3.604	-0.080878	0.07141	.	.	ENSG00000177558	ENST00000324675	T	0.20738	2.05	4.87	-6.98	0.01611	Immunoglobulin-like fold (1);	2.545690	0.01112	N	0.005599	T	0.05823	0.0152	N	0.01576	-0.805	0.09310	N	0.999999	B	0.12013	0.005	B	0.09377	0.004	T	0.22452	-1.0216	10	0.24483	T	0.36	-4.1348	2.075	0.03622	0.1968:0.1985:0.4273:0.1773	.	50	Q17R55	F187B_HUMAN	Q	50	ENSP00000323355:H50Q	ENSP00000323355:H50Q	H	-	3	2	FAM187B	40411274	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	-1.232000	0.02936	-0.866000	0.04068	0.655000	0.94253	CAC		0.498	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		T	35719434	G	T	35719434	3	4	191	1	0	0	0	0	1	0	0	0	5513	1020	36	3	967	3	FAM187B	19	35719434	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	15896233	35719434	23409549	137	11075											
CEACAM21	90273	genome.wustl.edu	37	19	42085771	42085771	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr19:42085771C>A	ENST00000401445.2	+	3	516	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	CEACAM21_ENST00000187608.9_Missense_Mutation_p.L164M|CEACAM21_ENST00000407170.2_Missense_Mutation_p.L36M|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	164	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.L164M(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CTCCGTGGTCCTGACCTGCCA	0.527																																																1	Substitution - Missense(1)	ovary(1)	19											55	60	58					19																	42085771		2073	4219	6292	46777611	SO:0001583	missense	90273			AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.490C>A	19.37:g.42085771C>A	ENSP00000385739:p.Leu164Met		46777611	B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303534	0.60195	.	.	ENSG00000007129	ENST00000407170;ENST00000187608;ENST00000401445	T;T;T	0.01854	4.6;4.6;4.6	3.56	-0.183	0.13284	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09862	0.0242	M	0.85462	2.755	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.17561	-1.0365	9	0.87932	D	0	.	2.5165	0.04669	0.229:0.4784:0.0:0.2926	.	164;164	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	M	36;164;164	ENSP00000384380:L36M;ENSP00000187608:L164M;ENSP00000385739:L164M	ENSP00000187608:L164M	L	+	1	2	CEACAM21	46777611	0.000000	0.05858	0.148000	0.22405	0.768000	0.43524	-0.176000	0.09811	0.223000	0.20920	0.385000	0.25706	CTG		0.527	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		A	42085771	C	A	42085771	3	1	191	1	0	0	0	0	1	0	0	0	3192	680	24	3	500	3	CEACAM21	19	42085771	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	6366337	42085771	17043212	138	11076											
C20orf54	113278	genome.wustl.edu	37	20	745986	745986	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr20:745986C>G	ENST00000217254.7	-	2	674	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	SLC52A3_ENST00000381944.3_Missense_Mutation_p.E145Q|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	145					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.E145Q(1)									CTGAGTCCTTCACCCACAAAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	20											69	61	63					20																	745986		2203	4300	6503	693986	SO:0001583	missense	113278			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.433G>C	20.37:g.745986C>G	ENSP00000217254:p.Glu145Gln		693986	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845046	0.71603	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	D;D	0.89939	-2.59;-2.59	5.65	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.92453	0.7604	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91307	0.5071	10	0.33141	T	0.24	-9.2925	15.3965	0.74798	0.0:0.8602:0.1398:0.0	.	145;145	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	Q	145	ENSP00000217254:E145Q;ENSP00000371370:E145Q	ENSP00000217254:E145Q	E	-	1	0	C20orf54	693986	1.000000	0.71417	0.984000	0.44739	0.970000	0.65996	7.759000	0.85235	1.386000	0.46466	0.561000	0.74099	GAA		0.597	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		G	745986	C	G	745986	3	3	191	1	0	0	0	0	1	0	0	0	2114	835	29	3	992	3	C20orf54	20	745986	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09		745986	62279534	139	11077											
GINS1	9837	genome.wustl.edu	37	20	25405913	25405913	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr20:25405913G>C	ENST00000262460.4	+	5	491	c.397G>C	c.(397-399)Ggt>Cgt	p.G133R	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	133					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G133R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGAGATGAAGGTTTGGACAT	0.313																																																1	Substitution - Missense(1)	ovary(1)	20											93	93	93					20																	25405913		2203	4299	6502	25353913	SO:0001583	missense	9837			BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.397G>C	20.37:g.25405913G>C	ENSP00000262460:p.Gly133Arg		25353913	Q9NQE2|Q9NQI7	Missense_Mutation	SNP	ENST00000262460.4	37	CCDS33451.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813481	0.90790	.	.	ENSG00000101003	ENST00000262460	T	0.47528	0.84	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.69401	-0.5155	10	0.38643	T	0.18	-15.4848	18.8867	0.92381	0.0:0.0:1.0:0.0	.	133	Q14691	PSF1_HUMAN	R	133	ENSP00000262460:G133R	ENSP00000262460:G133R	G	+	1	0	GINS1	25353913	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.521000	0.90569	2.750000	0.94351	0.655000	0.94253	GGT		0.313	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		C	25405913	G	C	25405913	3	2	191	1	0	0	0	0	1	0	0	0	6387	1000	35	3	415	3	GINS1	20	25405913	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09	24659927	25405913	37619607	140	11078											
TTC3	7267	genome.wustl.edu	37	21	38537877	38537877	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr21:38537877C>G	ENST00000399017.2	+	33	6108	c.3361C>G	c.(3361-3363)Cat>Gat	p.H1121D	TTC3_ENST00000354749.2_Missense_Mutation_p.H1121D|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.H1121D	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1121					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H1121D(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTGGAGGAACATGGTCCCTT	0.333																																					Ovarian(38;194 1649 35661)											1	Substitution - Missense(1)	ovary(1)	21											108	118	114					21																	38537877		2202	4299	6501	37459747	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3361C>G	21.37:g.38537877C>G	ENSP00000381981:p.His1121Asp		37459747	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.89|12.89	2.073989|2.073989	0.36566|0.36566	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.16324|.	2.35;2.36;2.65;2.65;2.65|.	4.61|4.61	2.63|2.63	0.31362|0.31362	.|.	0.500739|.	0.19424|.	N|.	0.114611|.	T|T	0.68393|0.68393	0.2996|0.2996	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	P;B|.	0.34587|.	0.458;0.329|.	B;B|.	0.35039|.	0.194;0.095|.	T|T	0.65030|0.65030	-0.6267|-0.6267	10|5	0.72032|.	D|.	0.01|.	-7.8057|-7.8057	11.6451|11.6451	0.51257|0.51257	0.3574:0.6426:0.0:0.0|0.3574:0.6426:0.0:0.0	.|.	179;1121|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	D|K	1121;1103;1121;1121;1121|276	ENSP00000403943:H1121D;ENSP00000391891:H1103D;ENSP00000347889:H1121D;ENSP00000381981:H1121D;ENSP00000346791:H1121D|.	ENSP00000346791:H1121D|.	H|N	+|+	1|3	0|2	TTC3|TTC3	37459747|37459747	0.999000|0.999000	0.42202|0.42202	0.211000|0.211000	0.23655|0.23655	0.944000|0.944000	0.59088|0.59088	1.902000|1.902000	0.39848|0.39848	0.395000|0.395000	0.25257|0.25257	0.491000|0.491000	0.48974|0.48974	CAT|AAC		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			G	38537877	C	G	38537877	3	3	191	1	0	0	0	0	1	0	0	0	16697	478	17	3	3487	3	TTC3	21	38537877	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09		38537877	9592018	141	11079											
DSCAM	1826	genome.wustl.edu	37	21	41424001	41424001	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr21:41424001T>G	ENST00000400454.1	-	30	5546	c.5069A>C	c.(5068-5070)gAc>gCc	p.D1690A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1690					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D1690A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCTCCAAAGTCAGCATCCGT	0.532																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - Missense(1)	ovary(1)	21											90	91	91					21																	41424001		2042	4194	6236	40345871	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5069A>C	21.37:g.41424001T>G	ENSP00000383303:p.Asp1690Ala		40345871	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.803132	0.70682	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.62639	0.01;0.11	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	N	0.24115	0.695	0.50813	D	0.999891	P	0.43788	0.817	B	0.39339	0.297	T	0.48490	-0.9031	10	0.28530	T	0.3	.	16.1299	0.81422	0.0:0.0:0.0:1.0	.	1690	O60469	DSCAM_HUMAN	A	1690;1442	ENSP00000383303:D1690A;ENSP00000385342:D1442A	ENSP00000383303:D1690A	D	-	2	0	DSCAM	40345871	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.603000	0.82811	2.215000	0.71742	0.528000	0.53228	GAC		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		G	41424001	T	G	41424001	3	3	191	1	0	0	0	0	1	0	0	0	4768	1667	58	5	985	5	DSCAM	21	41424001	Missense_Mutation	SNP	T	TCGA-23-1124-01A-01W-0488-09	2886124	41424001	6705894	142	11080											
SF3A1	10291	genome.wustl.edu	37	22	30735183	30735183	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr22:30735183C>A	ENST00000215793.8	-	10	1587	c.1433G>T	c.(1432-1434)gGt>gTt	p.G478V	SF3A1_ENST00000439242.1_Missense_Mutation_p.G413V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	478					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G478V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TTCCTCTACACCGAAGATGTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	22											229	186	201					22																	30735183		2203	4300	6503	29065183	SO:0001583	missense	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1433G>T	22.37:g.30735183C>A	ENSP00000215793:p.Gly478Val		29065183	E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083973	0.55861	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.52526	0.66;0.72	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76924	-0.2779	10	0.87932	D	0	-10.8267	20.3248	0.98698	0.0:1.0:0.0:0.0	.	478	Q15459	SF3A1_HUMAN	V	413;478;375	ENSP00000390336:G413V;ENSP00000215793:G478V	ENSP00000215793:G478V	G	-	2	0	SF3A1	29065183	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	7.649000	0.83500	2.818000	0.97014	0.655000	0.94253	GGT		0.498	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		A	30735183	C	A	30735183	3	1	191	1	0	0	0	0	1	0	0	0	14149	507	18	3	976	3	SF3A1	22	30735183	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09		30735183	20569383	143	11081											
KDELR3	11015	genome.wustl.edu	37	22	38877445	38877446	+	Missense_Mutation	DNP	TT	TT	GA			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	T	T	T	G|A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chr22:38877445_38877446TT>GA	ENST00000216014.4	+	4	752_753	c.580_581TT>GA	c.(580-582)TTc>GAc	p.F194D	KDELR3_ENST00000409006.3_Missense_Mutation_p.F194D|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	194					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)	p.F194V(1)|p.F194Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CTACTGTGACTTCTTCTACTTG	0.441																																					Ovarian(11;103 529 24120 28493 32980)											2	Substitution - Missense(2)	ovary(2)	22																																								37207391|37207392	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	Exception_encountered	22.37:g.38877445_38877446delinsGA	ENSP00000216014:p.Phe194Asp		37207391|37207392	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	CCDS13972.1																																																																																				0.441	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			GA	38877446	TT	GA	38877445	3	3	191	1	0	0	0	0	1	0	0	0	8121	1609	56	5	594	5	KDELR3	22	38877445	Missense_Mutation	DNP	TT	TCGA-23-1124-01A-01W-0488-09	8142262	38877445	12427121	144	11082											
LPAR4	2846	genome.wustl.edu	37	X	78011285	78011285	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chrX:78011285G>C	ENST00000435339.3	+	2	1305	c.919G>C	c.(919-921)Gac>Cac	p.D307H		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	307					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.D307N(1)|p.D307Y(1)|p.D307H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTGTTGTTTTGACCCTTTCAT	0.418																																																3	Substitution - Missense(3)	ovary(2)|breast(1)	X											197	159	172					X																	78011285		2203	4300	6503	77897941	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.919G>C	X.37:g.78011285G>C	ENSP00000408205:p.Asp307His		77897941	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177791	0.57692	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.74106	-0.81;-0.81	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.88224	0.6379	M	0.91406	3.205	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.91010	0.4849	10	0.87932	D	0	.	13.9688	0.64225	0.0:0.0:1.0:0.0	.	307	Q99677	LPAR4_HUMAN	H	307	ENSP00000408205:D307H;ENSP00000362398:D307H	ENSP00000362398:D307H	D	+	1	0	LPAR4	77897941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.112000	0.94314	1.832000	0.53329	0.422000	0.28245	GAC		0.418	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		C	78011285	G	C	78011285	3	2	191	1	0	0	0	0	1	0	0	0	8907	1290	45	3	921	3	LPAR4	23	78011285	Missense_Mutation	SNP	G	TCGA-23-1124-01A-01W-0488-09		78011285	77259275	145	11083											
MOSPD1	56180	genome.wustl.edu	37	X	134033376	134033376	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1124-01A-01W-0488-09	TCGA-23-1124-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	8a4061a0-77f2-4bb4-a3da-9b3d9f0314b9	9740f8a4-5a1c-4f7e-9c09-630287a7ae7d	g.chrX:134033376C>T	ENST00000370783.3	-	2	274	c.88G>A	c.(88-90)Gat>Aat	p.D30N	MOSPD1_ENST00000370779.4_Missense_Mutation_p.D30N|MOSPD1_ENST00000370777.1_Missense_Mutation_p.D30N|MOSPD1_ENST00000491609.1_5'UTR	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	30	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)	p.D30N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					GTTGACTGATCATCTGCATAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											154	142	146					X																	134033376		2203	4300	6503	133861042	SO:0001583	missense	56180			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.88G>A	X.37:g.134033376C>T	ENSP00000359819:p.Asp30Asn		133861042	B2RE62|D3DTG5|Q5H9C5|Q5H9C7	Missense_Mutation	SNP	ENST00000370783.3	37	CCDS14645.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621218	0.87460	.	.	ENSG00000101928	ENST00000370783;ENST00000370779;ENST00000370777	T;T;T	0.71461	-0.57;-0.57;-0.57	5.91	5.91	0.95273	PapD-like (2);	0.092927	0.64402	D	0.000001	T	0.75042	0.3796	L	0.55743	1.74	0.80722	D	1	P;D;P	0.53619	0.943;0.961;0.93	P;P;P	0.51701	0.677;0.566;0.619	T	0.71213	-0.4659	10	0.24483	T	0.36	-1.2971	18.0725	0.89415	0.0:1.0:0.0:0.0	.	30;30;30	B4DR28;Q9UJG1;Q9UJG1-2	.;MSPD1_HUMAN;.	N	30	ENSP00000359819:D30N;ENSP00000359815:D30N;ENSP00000359813:D30N	ENSP00000359813:D30N	D	-	1	0	MOSPD1	133861042	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.491000	0.84063	0.594000	0.82650	GAT		0.403	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085439.1	NM_019556		T	134033376	C	T	134033376	3	4	191	1	0	0	0	0	1	0	0	0	9715	826	29	2	573	2	MOSPD1	23	134033376	Missense_Mutation	SNP	C	TCGA-23-1124-01A-01W-0488-09	56022091	134033376	21237184	146	11084											
FCRL4	83417	genome.wustl.edu	37	1	157559011	157559011	+	Missense_Mutation	SNP	C	C	T	rs200366937		TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr1:157559011C>T	ENST00000271532.1	-	3	425	c.290G>A	c.(289-291)cGc>cAc	p.R97H	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	97	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAAGAGCAAGCGCACAGGGTT	0.502													C|||	1	0.000199681	0	0	5008	,	,		18190	0		0.001	False		,,,				2504	0															0			1											65	71	69					1																	157559011		2203	4300	6503	155825635	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.290G>A	1.37:g.157559011C>T	ENSP00000271532:p.Arg97His		155825635	Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.009	-1.828377	0.00584	.	.	ENSG00000163518	ENST00000271532	T	0.13538	2.58	4.2	-8.41	0.00961	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.085590	0.00616	N	0.000432	T	0.00936	0.0031	N	0.11255	0.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29610	-1.0006	10	0.02654	T	1	.	3.4917	0.07639	0.1931:0.447:0.1785:0.1815	.	97	Q96PJ5	FCRL4_HUMAN	H	97	ENSP00000271532:R97H	ENSP00000271532:R97H	R	-	2	0	FCRL4	155825635	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-3.799000	0.00363	-3.237000	0.00208	-1.031000	0.02408	CGC		0.502	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		T	157559011	C	T	157559011	3	4	192	1	0	0	0	0	1	0	0	0	5797	768	27	1	1297	1	FCRL4	1	157559011	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09		157559011	91691610	1	11085											
DUSP27	92235	genome.wustl.edu	37	1	167097496	167097496	+	Missense_Mutation	SNP	G	G	A	rs373097210		TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr1:167097496G>A	ENST00000361200.2	+	6	3294	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	DUSP27_ENST00000443333.1_Missense_Mutation_p.R1043H|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1043H|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1043					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACTTCTTCCGCCGGACCCCA	0.587													G|||	1	0.000199681	0	0	5008	,	,		17980	0.001		0	False		,,,				2504	0															0			1						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	30	35	34		3128	3	1	1		34	0,8600		0,0,4300	no	missense	DUSP27	NM_001080426.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	1043/1159	167097496	2,13004	2203	4300	6503	165364120	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3128G>A	1.37:g.167097496G>A	ENSP00000354483:p.Arg1043His		165364120	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404622	0.42613	4.54E-4	0.0	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03607	3.87;3.87;3.87	5.25	3.01	0.34805	.	0.728597	0.12539	N	0.460071	T	0.02047	0.0064	L	0.57536	1.79	0.25501	N	0.987551	B	0.18610	0.029	B	0.10450	0.005	T	0.36553	-0.9743	10	0.87932	D	0	-4.8272	11.2261	0.48884	0.1697:0.0:0.8303:0.0	.	1043	Q5VZP5	DUS27_HUMAN	H	1043	ENSP00000354483:R1043H;ENSP00000271385:R1043H;ENSP00000404874:R1043H	ENSP00000271385:R1043H	R	+	2	0	DUSP27	165364120	0.997000	0.39634	0.989000	0.46669	0.516000	0.34256	2.891000	0.48617	1.189000	0.43028	0.643000	0.83706	CGC		0.587	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167097496	G	A	167097496	3	1	192	1	0	0	0	0	1	0	0	0	4824	1087	38	1	3146	1	DUSP27	1	167097496	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	9538485	167097496	82153125	2	11086											
CRB1	23418	genome.wustl.edu	37	1	197396643	197396643	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr1:197396643G>A	ENST00000367400.3	+	7	2323	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N	CRB1_ENST00000544212.1_Missense_Mutation_p.D211N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.D618N|CRB1_ENST00000535699.1_Missense_Mutation_p.D661N|CRB1_ENST00000367397.1_Missense_Mutation_p.D111N|CRB1_ENST00000543483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	730	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTTACTCTTGATGAGAGCTA	0.418																																																0			1											87	77	80					1																	197396643		2203	4300	6503	195663266	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2188G>A	1.37:g.197396643G>A	ENSP00000356370:p.Asp730Asn		195663266	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344617	0.11126	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.75	3.88	0.44766	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.60366	0.2263	N	0.16368	0.405	0.20638	N	0.999875	B;B;B;B	0.17268	0.005;0.021;0.005;0.007	B;B;B;B	0.15484	0.009;0.013;0.006;0.004	T	0.35871	-0.9771	9	0.08837	T	0.75	.	11.6491	0.51277	0.1444:0.0:0.8556:0.0	.	661;618;379;730	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	661;730;618;211;111;379	ENSP00000438786:D661N;ENSP00000356370:D730N;ENSP00000356369:D618N;ENSP00000444556:D211N;ENSP00000356367:D111N	ENSP00000356367:D111N	D	+	1	0	CRB1	195663266	0.043000	0.20138	0.004000	0.12327	0.007000	0.05969	2.149000	0.42244	0.757000	0.33036	0.650000	0.86243	GAT		0.418	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		A	197396643	G	A	197396643	3	1	192	1	0	0	0	0	1	0	0	0	3848	1290	45	2	2214	2	CRB1	1	197396643	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	30299147	197396643	51853978	3	11087											
CRB1	23418	genome.wustl.edu	37	1	197396764	197396764	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr1:197396764G>C	ENST00000367400.3	+	7	2444	c.2309G>C	c.(2308-2310)gGc>gCc	p.G770A	CRB1_ENST00000544212.1_Missense_Mutation_p.G251A|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.G658A|CRB1_ENST00000535699.1_Missense_Mutation_p.G701A|CRB1_ENST00000367397.1_Missense_Mutation_p.G151A|CRB1_ENST00000543483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	770	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTAGAGCGCGGCAGACTAGCA	0.408																																																0			1											51	49	49					1																	197396764		2203	4300	6503	195663387	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2309G>C	1.37:g.197396764G>C	ENSP00000356370:p.Gly770Ala		195663387	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176848	0.57692	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.56	5.56	0.83823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.94955	0.8368	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.95018	0.8158	9	0.54805	T	0.06	.	19.5255	0.95203	0.0:0.0:1.0:0.0	.	701;658;419;770	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	A	701;770;658;251;151;419	ENSP00000438786:G701A;ENSP00000356370:G770A;ENSP00000356369:G658A;ENSP00000444556:G251A;ENSP00000356367:G151A	ENSP00000356367:G151A	G	+	2	0	CRB1	195663387	1.000000	0.71417	0.176000	0.23000	0.017000	0.09413	9.212000	0.95126	2.595000	0.87683	0.650000	0.86243	GGC		0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		C	197396764	G	C	197396764	3	2	192	1	0	0	0	0	1	0	0	0	3848	1203	42	3	2335	3	CRB1	1	197396764	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	121	197396764	51853857	4	11088											
USH2A	7399	genome.wustl.edu	37	1	215848894	215848894	+	Missense_Mutation	SNP	C	C	T	rs188008529	byFrequency	TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr1:215848894C>T	ENST00000307340.3	-	63	12745	c.12359G>A	c.(12358-12360)cGc>cAc	p.R4120H	USH2A_ENST00000366943.2_Missense_Mutation_p.R4120H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4120	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCAGGCGGCGGAAGAGAAA	0.532										HNSCC(13;0.011)			C|||	3	0.000599042	0	0.0014	5008	,	,		16504	0.001		0.001	False		,,,				2504	0															0			1											64	62	62					1																	215848894		2203	4300	6503	213915517	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12359G>A	1.37:g.215848894C>T	ENSP00000305941:p.Arg4120His		213915517	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	24.6	4.553248	0.86127	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54279	0.58;0.58	5.25	5.25	0.73442	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.38164	N	0.001785	T	0.67998	0.2953	M	0.65975	2.015	0.49915	D	0.999838	D	0.89917	1.0	D	0.69142	0.962	T	0.70306	-0.4908	10	0.62326	D	0.03	.	12.2311	0.54488	0.0:0.9223:0.0:0.0777	.	4120	O75445	USH2A_HUMAN	H	4120	ENSP00000305941:R4120H;ENSP00000355910:R4120H	ENSP00000305941:R4120H	R	-	2	0	USH2A	213915517	0.998000	0.40836	0.426000	0.26672	0.974000	0.67602	4.575000	0.60908	2.454000	0.82982	0.650000	0.86243	CGC		0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215848894	C	T	215848894	3	4	192	1	0	0	0	0	1	0	0	0	17036	768	27	1	3289	1	USH2A	1	215848894	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	18452130	215848894	33401727	5	11089											
GNPAT	8443	genome.wustl.edu	37	1	231401855	231401855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr1:231401855G>T	ENST00000366647.4	+	7	1037	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	GNPAT_ENST00000366646.3_Nonsense_Mutation_p.E229*	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	290					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GATCTTGGAAGAAACTCTTTA	0.363																																																0			1											116	116	116					1																	231401855		2203	4300	6503	229468478	SO:0001587	stop_gained	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.868G>T	1.37:g.231401855G>T	ENSP00000355607:p.Glu290*		229468478	B4DNM9|Q5TBH7|Q9BWC2	Nonsense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	G	38	6.860793	0.97893	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6181	0.95643	0.0:0.0:1.0:0.0	.	.	.	.	X	290;229;280	.	.	E	+	1	0	GNPAT	229468478	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.639000	0.89480	0.460000	0.39030	GAA		0.363	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			T	231401855	G	T	231401855	4	4	192	1	0	0	0	0	0	1	0	0	6541	943	33	3	894	3	GNPAT	1	231401855	Nonsense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	15552961	231401855	17848766	6	11090											
CEP170	9859	genome.wustl.edu	37	1	243328396	243328396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr1:243328396G>A	ENST00000366542.1	-	13	2917	c.2866C>T	c.(2866-2868)Cga>Tga	p.R956*	RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Nonsense_Mutation_p.R858*|CEP170_ENST00000366544.1_Nonsense_Mutation_p.R858*|CEP170_ENST00000490813.1_5'Flank	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	956	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AAACTCTTTCGCTTTTGGGTT	0.373																																																0			1											13	12	12					1																	243328396		1740	3931	5671	241395019	SO:0001587	stop_gained	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2866C>T	1.37:g.243328396G>A	ENSP00000355500:p.Arg956*		241395019	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Nonsense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	38	6.924332	0.97940	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543	.	.	.	4.89	4.89	0.63831	.	0.064020	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4089	12.1925	0.54278	0.0:0.0:0.8294:0.1706	.	.	.	.	X	956;858;858	.	ENSP00000355500:R956X	R	-	1	2	CEP170	241395019	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.022000	0.64078	2.248000	0.74166	0.555000	0.69702	CGA		0.373	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		A	243328396	G	A	243328396	4	1	192	1	0	0	0	0	0	1	0	0	3250	1095	38	1	1950	1	CEP170	1	243328396	Nonsense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	11926541	243328396	5922225	7	11091											
OR2L3	391192	genome.wustl.edu	37	1	248224819	248224819	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr1:248224819C>A	ENST00000359959.3	+	1	836	c.836C>A	c.(835-837)aCc>aAc	p.T279N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCTACACCACCCTCACTCCA	0.493																																																0			1											101	92	95					1																	248224819		2203	4300	6503	246291442	SO:0001583	missense	391192			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.836C>A	1.37:g.248224819C>A	ENSP00000353044:p.Thr279Asn		246291442	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	T	5.296	0.239985	0.10023	.	.	ENSG00000198128	ENST00000359959	T	0.00115	8.71	2.01	0.771	0.18504	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31821	U	0.007016	T	0.00109	0.0003	N	0.16567	0.415	0.09310	N	1	B	0.24258	0.1	B	0.36092	0.217	T	0.30179	-0.9987	10	0.87932	D	0	.	6.3461	0.21351	0.0:0.2447:0.0:0.7553	.	279	Q8NG85	OR2L3_HUMAN	N	279	ENSP00000353044:T279N	ENSP00000353044:T279N	T	+	2	0	OR2L3	246291442	0.000000	0.05858	0.070000	0.20053	0.405000	0.30901	0.295000	0.19065	-0.357000	0.08175	-0.535000	0.04281	ACC		0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		A	248224819	C	A	248224819	3	1	192	1	0	0	0	0	1	0	0	0	11008	507	18	3	838	3	OR2L3	1	248224819	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	4896423	248224819	1025802	8	11092											
EMILIN1	11117	genome.wustl.edu	37	2	27306616	27306616	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr2:27306616G>A	ENST00000380320.4	+	4	2676	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q	KHK_ENST00000260599.6_5'Flank	NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	726					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGAGGGGCGATTGGGCCGT	0.647																																																0			2											70	76	74					2																	27306616		2203	4300	6503	27160120	SO:0001583	missense	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2177G>A	2.37:g.27306616G>A	ENSP00000369677:p.Arg726Gln		27160120	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	CCDS1733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.808605|3.808605	0.70797|0.70797	.|.	.|.	ENSG00000138080|ENSG00000138080	ENST00000433140|ENST00000380320;ENST00000544143	.|T	.|0.75477	.|-0.94	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.74959|0.74959	0.3785|0.3785	L|L	0.29908|0.29908	0.895|0.895	0.20196|0.20196	N|N	0.999929|0.999929	.|D	.|0.89917	.|1.0	.|D	.|0.63957	.|0.92	T|T	0.65602|0.65602	-0.6128|-0.6128	5|10	.|0.39692	.|T	.|0.17	-11.0345|-11.0345	10.6237|10.6237	0.45495|0.45495	0.0:0.0:0.8086:0.1914|0.0:0.0:0.8086:0.1914	.|.	.|726	.|Q9Y6C2	.|EMIL1_HUMAN	N|Q	52|726;52	.|ENSP00000369677:R726Q	.|ENSP00000369677:R726Q	D|R	+|+	1|2	0|0	EMILIN1|EMILIN1	27160120|27160120	0.998000|0.998000	0.40836|0.40836	0.304000|0.304000	0.25085|0.25085	0.956000|0.956000	0.61745|0.61745	7.006000|7.006000	0.76329|0.76329	2.539000|2.539000	0.85634|0.85634	0.561000|0.561000	0.74099|0.74099	GAT|CGA		0.647	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		A	27306616	G	A	27306616	3	1	192	1	0	0	0	0	1	0	0	0	5093	1058	37	1	2191	1	EMILIN1	2	27306616	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09		27306616	215892757	9	11093											
NEB	4703	genome.wustl.edu	37	2	152500388	152500388	+	Silent	SNP	G	G	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr2:152500388G>A	ENST00000172853.10	-	57	8047	c.7900C>T	c.(7900-7902)Ctg>Ttg	p.L2634L	NEB_ENST00000397345.3_Silent_p.L2634L|NEB_ENST00000427231.2_Silent_p.L2634L|NEB_ENST00000603639.1_Silent_p.L2634L|NEB_ENST00000604864.1_Silent_p.L2634L|NEB_ENST00000409198.1_Silent_p.L2634L			P20929	NEBU_HUMAN	nebulin	2634					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTCGGGCAGGCATGTCCAC	0.547																																																0			2											226	217	220					2																	152500388		2051	4206	6257	152208634	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7900C>T	2.37:g.152500388G>A			152208634	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.547	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152500388	G	A	152500388	2	1	192	1	0	0	0	0	0	0	0	1	10302	991	35	2		2	NEB	2	152500388	Silent	SNP	G	TCGA-23-1809-01A-01W-0633-09	125193772	152500388	90698985	10	11094											
HNRNPA3	220988	genome.wustl.edu	37	2	178082446	178082446	+	Silent	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr2:178082446C>T	ENST00000392524.2	+	8	1071	c.834C>T	c.(832-834)ggC>ggT	p.G278G	HNRNPA3_ENST00000411529.2_Silent_p.G256G|HNRNPA3_ENST00000435711.1_Silent_p.G278G			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	278	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GCAACTATGGCGGTGGTCCTG	0.448																																																0			2											249	251	250					2																	178082446		2203	4300	6503	177790692	SO:0001819	synonymous_variant	220988			AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"RNA binding motif (RRM) containing"	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.834C>T	2.37:g.178082446C>T			177790692	D3DPF4|Q53RW7|Q6URK5	Silent	SNP	ENST00000392524.2	37	CCDS2273.1																																																																																				0.448	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		T	178082446	C	T	178082446	2	4	192	1	0	0	0	0	0	0	0	1	7260	755	27	1		1	HNRNPA3	2	178082446	Silent	SNP	C	TCGA-23-1809-01A-01W-0633-09	25582058	178082446	65116927	11	11095											
MARCH4	57574	genome.wustl.edu	37	2	217234468	217234468	+	Splice_Site	SNP	C	C	G			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr2:217234468C>G	ENST00000273067.4	-	1	2282	c.516G>C	c.(514-516)caG>caC	p.Q172H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	172						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGGGACTCACCTGTTCTGGCC	0.537																																																0			2											82	83	82					2																	217234468		2203	4300	6503	216942713	SO:0001630	splice_region_variant	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.516+1G>C	2.37:g.217234468C>G			216942713	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144237	0.37825	.	.	ENSG00000144583	ENST00000273067	T	0.29917	1.55	5.5	5.5	0.81552	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.143577	0.48767	D	0.000174	T	0.31857	0.0810	L	0.52126	1.63	0.49687	D	0.99981	B	0.17038	0.02	B	0.17433	0.018	T	0.04961	-1.0915	9	.	.	.	0.0268	18.7696	0.91885	0.0:1.0:0.0:0.0	.	172	Q9P2E8	MARH4_HUMAN	H	172	ENSP00000273067:Q172H	.	Q	-	3	2	MARCH4	216942713	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.500000	0.53318	2.757000	0.94681	0.591000	0.81541	CAG		0.537	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814	Missense_Mutation	G	217234468	C	G	217234468	5	3	192	1	0	0	0	0	0	0	1	0	9303	695	24	3	732	3	MARCH4	2	217234468	Splice_Site	SNP	C	TCGA-23-1809-01A-01W-0633-09	39152022	217234468	25964905	12	11096											
LRRFIP1	9208	genome.wustl.edu	37	2	238688126	238688126	+	Missense_Mutation	SNP	G	G	A	rs200515993	byFrequency	TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr2:238688126G>A	ENST00000308482.9	+	24	1943	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	471					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TTAGTGAAGCGTCTGGAAAAA	0.488													G|||	2	0.000399361	0	0.0029	5008	,	,		18110	0		0	False		,,,				2504	0															0			2											76	70	72					2																	238688126		1568	3582	5150	238352865	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1874G>A	2.37:g.238688126G>A	ENSP00000310109:p.Arg625His		238352865	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000308482.9	37	CCDS46551.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	33	5.228303	0.95173	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	D	0.83163	-1.69	4.85	4.85	0.62838	.	.	.	.	.	D	0.91663	0.7365	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.92967	0.6394	9	0.87932	D	0	.	17.3552	0.87334	0.0:0.0:1.0:0.0	.	379;625	B4DPC0;E9PGZ2	.;.	H	625;615	ENSP00000310109:R625H	ENSP00000310109:R625H	R	+	2	0	LRRFIP1	238352865	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	9.375000	0.97178	2.409000	0.81822	0.563000	0.77884	CGT		0.488	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	NM_004735		A	238688126	G	A	238688126	3	1	192	1	0	0	0	0	1	0	0	0	9027	1145	40	1	3580	1	LRRFIP1	2	238688126	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	21453658	238688126	4511247	13	11097											
WDR49	151790	genome.wustl.edu	37	3	167246840	167246840	+	Splice_Site	SNP	C	C	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr3:167246840C>A	ENST00000308378.3	-	10	1655	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D	WDR49_ENST00000476376.1_Splice_Site_p.E275D|WDR49_ENST00000453925.2_Splice_Site_p.E514D|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	450								p.E450D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTCAATTTACCTCTATATTCC	0.358																																																1	Substitution - Missense(1)	lung(1)	3											64	61	62					3																	167246840		2203	4299	6502	168729534	SO:0001630	splice_region_variant	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1350+1G>T	3.37:g.167246840C>A			168729534	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.42|15.42	2.827757|2.827757	0.50845|0.50845	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600;ENST00000493061	T;T;T|.	0.35048|.	1.59;1.33;2.29|.	5.52|5.52	2.43|2.43	0.29744|0.29744	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.391663|.	0.29676|.	N|.	0.011493|.	T|T	0.44117|0.44117	0.1278|0.1278	L|L	0.57536|0.57536	1.79|1.79	0.19575|0.19575	N|N	0.999968|0.999968	P;P|.	0.48694|.	0.914;0.651|.	B;B|.	0.41236|.	0.351;0.165|.	T|T	0.28459|0.28459	-1.0043|-1.0043	9|5	.|.	.|.	.|.	.|.	8.8415|8.8415	0.35144|0.35144	0.0:0.7211:0.0:0.2789|0.0:0.7211:0.0:0.2789	.|.	514;450|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	D|M	450;275;514|526;88	ENSP00000311343:E450D;ENSP00000420508:E275D;ENSP00000410863:E514D|.	.|.	E|R	-|-	3|2	2|0	WDR49|WDR49	168729534|168729534	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.970000|0.970000	0.65996|0.65996	1.759000|1.759000	0.38420|0.38420	0.172000|0.172000	0.19760|0.19760	0.563000|0.563000	0.77884|0.77884	GAG|AGG		0.358	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	Missense_Mutation	A	167246840	C	A	167246840	5	1	192	1	0	0	0	0	0	0	1	0	17302	695	24	3	767	3	WDR49	3	167246840	Splice_Site	SNP	C	TCGA-23-1809-01A-01W-0633-09		167246840	30775590	14	11098											
SEC31A	22872	genome.wustl.edu	37	4	83765560	83765560	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr4:83765560G>T	ENST00000395310.2	-	21	2787	c.2605C>A	c.(2605-2607)Cca>Aca	p.P869T	SEC31A_ENST00000355196.2_Missense_Mutation_p.P869T|SEC31A_ENST00000432794.1_Missense_Mutation_p.P869T|SEC31A_ENST00000448323.1_Missense_Mutation_p.P869T|SEC31A_ENST00000264405.5_Missense_Mutation_p.P633T|SEC31A_ENST00000508502.1_Missense_Mutation_p.P869T|SEC31A_ENST00000513858.1_Missense_Mutation_p.P830T|SEC31A_ENST00000326950.5_Missense_Mutation_p.P830T|SEC31A_ENST00000311785.7_Missense_Mutation_p.P869T|SEC31A_ENST00000508479.1_Missense_Mutation_p.P869T|SEC31A_ENST00000509142.1_Missense_Mutation_p.P869T|SEC31A_ENST00000505984.1_Missense_Mutation_p.P830T|SEC31A_ENST00000348405.4_Missense_Mutation_p.P830T|SEC31A_ENST00000443462.2_Missense_Mutation_p.P864T|SEC31A_ENST00000505472.1_Missense_Mutation_p.P900T|SEC31A_ENST00000500777.2_Missense_Mutation_p.P830T	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	869	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGATAAGGTGGTACCTGGGTG	0.443																																																0			4											169	164	166					4																	83765560		2203	4300	6503	83984584	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2605C>A	4.37:g.83765560G>T	ENSP00000378721:p.Pro869Thr		83984584	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.816|6.816|6.816	0.519571|0.519571|0.519571	0.13005|0.13005|0.13005	.|.|.	.|.|.	ENSG00000138674|ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479|ENST00000511338|ENST00000503937	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.44482|.|.	1.14;0.95;2.26;2.23;1.08;2.14;2.26;1.14;1.08;0.92;0.95;2.24;2.26;2.93;2.11;2.21|.|.	5.52|5.52|5.52	4.65|4.65|4.65	0.58169|0.58169|0.58169	.|.|.	0.489959|.|.	0.22690|.|.	N|.|.	0.056826|.|.	T|T|.	0.53706|0.53706|.	0.1813|0.1813|.	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.53688|0.53688|0.53688	D|D|D	0.999977|0.999977|0.999977	P;P;P;P;B;B;P;B;B;D|.|.	0.54397|.|.	0.709;0.518;0.455;0.59;0.328;0.103;0.702;0.44;0.015;0.966|.|.	B;B;B;B;B;B;P;B;B;P|.|.	0.57324|.|.	0.343;0.255;0.085;0.176;0.178;0.058;0.544;0.118;0.015;0.818|.|.	T|T|.	0.49204|0.49204|.	-0.8964|-0.8964|.	10|5|.	0.54805|.|.	T|.|.	0.06|.|.	-9.8264|-9.8264|-9.8264	14.3409|14.3409|14.3409	0.66624|0.66624|0.66624	0.0:0.1482:0.8518:0.0|0.0:0.1482:0.8518:0.0|0.0:0.1482:0.8518:0.0	.|.|.	864;830;869;830;830;869;869;869;633;869|.|.	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8|.|.	.;.;.;.;.;.;.;SC31A_HUMAN;.;.|.|.	T|N|X	830;830;869;864;869;869;869;830;869;900;830;869;869;633;830;869|79|18	ENSP00000337602:P830T;ENSP00000426886:P830T;ENSP00000378721:P869T;ENSP00000408027:P864T;ENSP00000426569:P869T;ENSP00000407944:P869T;ENSP00000400926:P869T;ENSP00000325087:P830T;ENSP00000309070:P869T;ENSP00000421633:P900T;ENSP00000421464:P830T;ENSP00000424635:P869T;ENSP00000347329:P869T;ENSP00000264405:P633T;ENSP00000424451:P830T;ENSP00000425999:P869T|.|.	ENSP00000264405:P633T|.|.	P|T|Y	-|-|-	1|2|3	0|0|2	SEC31A|SEC31A|SEC31A	83984584|83984584|83984584	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.949000|0.949000|0.949000	0.60115|0.60115|0.60115	1.922000|1.922000|1.922000	0.40045|0.40045|0.40045	1.267000|1.267000|1.267000	0.44247|0.44247|0.44247	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	CCA|ACC|TAC		0.443	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		T	83765560	G	T	83765560	3	4	192	1	0	0	0	0	1	0	0	0	14001	1261	44	3	1085	3	SEC31A	4	83765560	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09		83765560	107388716	15	11099											
INTU	27152	genome.wustl.edu	37	4	128625389	128625389	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr4:128625389G>A	ENST00000335251.6	+	10	1613	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	504					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CCAGTCCGAGGATTACTATGA	0.308																																																0			4											113	116	115					4																	128625389		2203	4300	6503	128844839	SO:0001583	missense	27152			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1510G>A	4.37:g.128625389G>A	ENSP00000334003:p.Asp504Asn		128844839	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142783	0.94560	.	.	ENSG00000164066	ENST00000335251	T	0.35789	1.29	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.65319	-0.6197	10	0.72032	D	0.01	-20.6031	18.4011	0.90516	0.0:0.0:1.0:0.0	.	504	Q9ULD6	PDZD6_HUMAN	N	504	ENSP00000334003:D504N	ENSP00000334003:D504N	D	+	1	0	INTU	128844839	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.131000	0.94446	2.672000	0.90937	0.555000	0.69702	GAT		0.308	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		A	128625389	G	A	128625389	3	1	192	1	0	0	0	0	1	0	0	0	7786	1174	41	2	1548	2	INTU	4	128625389	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	44859829	128625389	62528887	16	11100											
DCTD	1635	genome.wustl.edu	37	4	183836655	183836655	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr4:183836655C>T	ENST00000438320.2	-	2	357	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	DCTD_ENST00000510370.1_Missense_Mutation_p.A23T|DCTD_ENST00000357067.3_Missense_Mutation_p.A34T|DCTD_ENST00000513383.1_5'UTR	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	23					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	GATAAGAAGGCCACAGCCATA	0.413																																																0			4											121	133	129					4																	183836655		2203	4300	6503	184073649	SO:0001583	missense	1635			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.67G>A	4.37:g.183836655C>T	ENSP00000398194:p.Ala23Thr		184073649	B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	ENST00000438320.2	37	CCDS3831.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541156	0.96474	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766;ENST00000514754;ENST00000503820;ENST00000503988;ENST00000508994	T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	4.58	4.58	0.56647	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.84754	0.5542	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	D	0.88066	0.2797	10	0.87932	D	0	-19.9159	17.9365	0.89013	0.0:1.0:0.0:0.0	.	34;23	P32321-2;P32321	.;DCTD_HUMAN	T	34;23;23;23;23;23;23;23;23;23	ENSP00000349576:A34T;ENSP00000398194:A23T;ENSP00000424017:A23T;ENSP00000422662:A23T;ENSP00000424050:A23T;ENSP00000423182:A23T;ENSP00000423894:A23T;ENSP00000421792:A23T;ENSP00000422729:A23T	ENSP00000349576:A34T	A	-	1	0	DCTD	184073649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.303000	0.78871	2.530000	0.85305	0.655000	0.94253	GCC		0.413	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2			T	183836655	C	T	183836655	3	4	192	1	0	0	0	0	1	0	0	0	4305	739	26	2	489	2	DCTD	4	183836655	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	55211266	183836655	7317621	17	11101											
ADAM19	8728	genome.wustl.edu	37	5	156915448	156915448	+	Missense_Mutation	SNP	C	C	T	rs138014472		TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr5:156915448C>T	ENST00000517905.1	-	21	2419	c.2375G>A	c.(2374-2376)cGg>cAg	p.R792Q	ADAM19_ENST00000394020.1_Missense_Mutation_p.R794Q|ADAM19_ENST00000257527.4_Missense_Mutation_p.R792Q|ADAM19_ENST00000430702.2_Missense_Mutation_p.R525Q			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	792					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGGGGGCCGGGGAGGAGG	0.607																																																0			5						C	GLN/ARG	0,4402		0,0,2201	33	36	35		2375	3.8	1	5	dbSNP_134	35	2,8588		0,2,4293	no	missense	ADAM19	NM_033274.3	43	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	792/919	156915448	2,12990	2201	4295	6496	156848026	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2375G>A	5.37:g.156915448C>T	ENSP00000428654:p.Arg792Gln		156848026	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.80|10.80	1.451453|1.451453	0.26074|0.26074	0.0|0.0	2.33E-4|2.33E-4	ENSG00000135074|ENSG00000135074	ENST00000517374|ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	.|T;T;T;T	.|0.01685	.|4.69;4.81;4.84;4.81	5.58|5.58	3.79|3.79	0.43588|0.43588	.|.	.|0.327401	.|0.26708	.|N	.|0.022916	T|T	0.01189|0.01189	0.0039|0.0039	L|L	0.35487|0.35487	1.065|1.065	0.30636|0.30636	N|N	0.756988|0.756988	.|B;B;B	.|0.33494	.|0.414;0.147;0.106	.|B;B;B	.|0.20384	.|0.029;0.009;0.024	T|T	0.34030|0.34030	-0.9845|-0.9845	5|10	.|0.10377	.|T	.|0.69	.|.	4.474|4.474	0.11726|0.11726	0.1722:0.6183:0.0:0.2094|0.1722:0.6183:0.0:0.2094	.|.	.|792;792;525	.|Q9H013-2;Q9H013;E9PD32	.|.;ADA19_HUMAN;.	S|Q	363|525;792;794;792	.|ENSP00000414088:R525Q;ENSP00000257527:R792Q;ENSP00000377588:R794Q;ENSP00000428654:R792Q	.|ENSP00000257527:R792Q	G|R	-|-	1|2	0|0	ADAM19|ADAM19	156848026|156848026	0.113000|0.113000	0.22115|0.22115	0.970000|0.970000	0.41538|0.41538	0.034000|0.034000	0.12701|0.12701	0.374000|0.374000	0.20501|0.20501	0.709000|0.709000	0.31976|0.31976	-0.332000|-0.332000	0.08345|0.08345	GGC|CGG		0.607	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		T	156915448	C	T	156915448	3	4	192	1	0	0	0	0	1	0	0	0	240	652	23	1	393	1	ADAM19	5	156915448	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09		156915448	23999812	18	11102											
ATP10B	23120	genome.wustl.edu	37	5	160047770	160047770	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr5:160047770G>A	ENST00000327245.5	-	15	2846	c.2000C>T	c.(1999-2001)tCt>tTt	p.S667F	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	667					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGCACACAGATGCATCATC	0.587																																																0			5											67	70	69					5																	160047770		2170	4272	6442	159980348	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2000C>T	5.37:g.160047770G>A	ENSP00000313600:p.Ser667Phe		159980348	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	3.685	-0.064763	0.07273	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.86497	-2.13;-2.13	5.36	5.36	0.76844	HAD-like domain (1);	0.317848	0.30979	N	0.008498	D	0.86892	0.6042	L	0.58101	1.795	0.21652	N	0.9996	P;P	0.52463	0.817;0.953	B;P	0.44597	0.372;0.454	T	0.81510	-0.0900	9	.	.	.	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	275;667	Q2YDW8;O94823	.;AT10B_HUMAN	F	667;275	ENSP00000313600:S667F;ENSP00000431081:S275F	.	S	-	2	0	ATP10B	159980348	1.000000	0.71417	0.536000	0.28039	0.021000	0.10359	5.996000	0.70639	2.523000	0.85059	0.655000	0.94253	TCT		0.587	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		A	160047770	G	A	160047770	3	1	192	1	0	0	0	0	1	0	0	0	1117	942	33	2	2433	2	ATP10B	5	160047770	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	3132322	160047770	20867490	19	11103											
ITPR3	3710	genome.wustl.edu	37	6	33636358	33636358	+	Silent	SNP	C	C	G			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr6:33636358C>G	ENST00000374316.5	+	18	3013	c.1953C>G	c.(1951-1953)ctC>ctG	p.L651L	ITPR3_ENST00000605930.1_Silent_p.L651L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	651					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCCAAGAGCTCATCTGCAAGT	0.617																																																0			6											171	137	148					6																	33636358		2203	4300	6503	33744336	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1953C>G	6.37:g.33636358C>G			33744336	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.617	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		G	33636358	C	G	33636358	2	3	192	1	0	0	0	0	0	0	0	1	7922	813	29	3		3	ITPR3	6	33636358	Silent	SNP	C	TCGA-23-1809-01A-01W-0633-09		33636358	137478709	20	11104											
OR2A4	79541	genome.wustl.edu	37	6	132021773	132021773	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr6:132021773T>A	ENST00000315453.2	-	1	862	c.769A>T	c.(769-771)Atg>Ttg	p.M257L	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	257					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		CCAACATACATGATAATGGCT	0.473																																																0			6											52	75	68					6																	132021773		1799	4252	6051	132063466	SO:0001583	missense	79541			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"GPCR / Class A : Olfactory receptors"	14729	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 10"	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.769A>T	6.37:g.132021773T>A	ENSP00000319546:p.Met257Leu		132063466	Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	ENST00000315453.2	37	CCDS5149.1	.	.	.	.	.	.	.	.	.	.	-	2.989	-0.208582	0.06140	.	.	ENSG00000180658	ENST00000315453	T	0.00115	8.71	1.65	0.0121	0.14090	GPCR, rhodopsin-like superfamily (1);	0.387008	0.19223	U	0.119603	T	0.00039	0.0001	L	0.41632	1.29	0.20638	N	0.999872	B	0.26935	0.164	B	0.21917	0.037	T	0.31916	-0.9926	10	0.59425	D	0.04	.	4.7835	0.13213	0.5003:0.0:0.0:0.4997	.	257	O95047	OR2A4_HUMAN	L	257	ENSP00000319546:M257L	ENSP00000319546:M257L	M	-	1	0	OR2A4	132063466	0.009000	0.17119	0.998000	0.56505	0.000000	0.00434	0.215000	0.17562	-0.085000	0.12573	0.000000	0.15137	ATG		0.473	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908		A	132021773	T	A	132021773	3	1	192	1	0	0	0	0	1	0	0	0	10979	1464	51	5	166	5	OR2A4	6	132021773	Missense_Mutation	SNP	T	TCGA-23-1809-01A-01W-0633-09	98385415	132021773	39093294	21	11105											
PODXL	5420	genome.wustl.edu	37	7	131196071	131196071	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr7:131196071G>C	ENST00000378555.3	-	2	469	c.222C>G	c.(220-222)atC>atG	p.I74M	PODXL_ENST00000322985.9_Missense_Mutation_p.I74M|PODXL_ENST00000537928.1_Missense_Mutation_p.I74M|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000541194.1_Missense_Mutation_p.I76M			O00592	PODXL_HUMAN	podocalyxin-like	74	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CCGAGGCCAAGATTTCGTTGG	0.562																																																0			7											188	181	183					7																	131196071		2203	4300	6503	130846611	SO:0001583	missense	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.222C>G	7.37:g.131196071G>C	ENSP00000367817:p.Ile74Met		130846611	A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	G	6.587	0.476646	0.12521	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.12569	2.8;2.67;2.81;2.79	2.93	-5.86	0.02304	.	24.233300	0.00678	N	0.000661	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.25847	-1.0120	10	0.45353	T	0.12	3.1544	3.3928	0.07295	0.1405:0.4103:0.3345:0.1148	.	74;74	O00592-2;O00592	.;PODXL_HUMAN	M	76;74;64;74;74	ENSP00000440518:I76M;ENSP00000442655:I74M;ENSP00000367817:I74M;ENSP00000319782:I74M	ENSP00000319782:I74M	I	-	3	3	PODXL	130846611	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.452000	0.06787	-2.025000	0.00935	0.511000	0.50034	ATC		0.562	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		C	131196071	G	C	131196071	3	2	192	1	0	0	0	0	1	0	0	0	12180	932	33	3	1486	3	PODXL	7	131196071	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09		131196071	27942592	22	11106											
UBN2	254048	genome.wustl.edu	37	7	138969002	138969002	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr7:138969002G>A	ENST00000473989.3	+	15	3351	c.3351G>A	c.(3349-3351)atG>atA	p.M1117I	UBN2_ENST00000288561.8_Missense_Mutation_p.M1034I	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1117	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCAGTGGAATGAACATCAGCA	0.498																																																0			7											79	82	81					7																	138969002		2021	4192	6213	138619542	SO:0001583	missense	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3351G>A	7.37:g.138969002G>A	ENSP00000418648:p.Met1117Ile		138619542	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	1.183	-0.637677	0.03557	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.28895	1.59;1.6	5.51	-11.0	0.00169	.	1.032470	0.07602	N	0.923919	T	0.09730	0.0239	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13548	-1.0505	10	0.18710	T	0.47	1.6182	4.8769	0.13660	0.3872:0.3764:0.1607:0.0757	.	1117	Q6ZU65	UBN2_HUMAN	I	1117;1034	ENSP00000418648:M1117I;ENSP00000288561:M1034I	ENSP00000288561:M1034I	M	+	3	0	UBN2	138619542	0.154000	0.22792	0.016000	0.15963	0.874000	0.50279	-0.686000	0.05161	-2.134000	0.00812	-1.141000	0.01876	ATG		0.498	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		A	138969002	G	A	138969002	3	1	192	1	0	0	0	0	1	0	0	0	16893	1290	45	2	3409	2	UBN2	7	138969002	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	7772931	138969002	20169661	23	11107											
EPHX2	2053	genome.wustl.edu	37	8	27401703	27401703	+	Splice_Site	SNP	A	A	G			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr8:27401703A>G	ENST00000521400.1	+	18	1961	c.1531A>G	c.(1531-1533)Att>Gtt	p.I511V	EPHX2_ENST00000517536.1_Splice_Site_p.I328V|EPHX2_ENST00000380476.3_Splice_Site_p.I458V|EPHX2_ENST00000518379.1_Splice_Site_p.I479V|EPHX2_ENST00000521780.1_Splice_Site_p.I445V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	511	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TTCCTTTCAGATTCCCCACCT	0.572																																																0			8											141	133	136					8																	27401703		2203	4300	6503	27457620	SO:0001630	splice_region_variant	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1531-1A>G	8.37:g.27401703A>G			27457620	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170290	0.38315	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.05	4.05	0.47172	Alpha/beta hydrolase fold-1 (1);	0.102754	0.64402	D	0.000004	T	0.49864	0.1582	N	0.11000	0.08	0.53688	D	0.999974	B;B	0.30889	0.299;0.233	P;B	0.45610	0.487;0.274	T	0.45775	-0.9238	9	.	.	.	-27.6493	9.6845	0.40089	1.0:0.0:0.0:0.0	.	479;511	E5RFU2;P34913	.;HYES_HUMAN	V	511;328;445;458;458;479	ENSP00000430269:I511V;ENSP00000428875:I328V;ENSP00000430302:I445V;ENSP00000369843:I458V;ENSP00000427956:I479V	.	I	+	1	0	EPHX2	27457620	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	4.067000	0.57527	2.061000	0.61500	0.402000	0.26972	ATT		0.572	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4		Missense_Mutation	G	27401703	A	G	27401703	5	3	192	1	0	0	0	0	0	0	1	0	5180	347	12	4	1601	4	EPHX2	8	27401703	Splice_Site	SNP	A	TCGA-23-1809-01A-01W-0633-09		27401703	118962319	24	11108											
ELP3	55140	genome.wustl.edu	37	8	28017873	28017873	+	Missense_Mutation	SNP	G	G	A	rs190129217		TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr8:28017873G>A	ENST00000256398.8	+	13	1762	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	ELP3_ENST00000542181.1_Missense_Mutation_p.R333H|ELP3_ENST00000537665.1_Missense_Mutation_p.R343H|ELP3_ENST00000521015.1_Missense_Mutation_p.R448H|ELP3_ENST00000380353.4_Missense_Mutation_p.R370H|ELP3_ENST00000524103.1_Missense_Mutation_p.R390H	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	462	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GAAACTTTCCGTTTCGAATTG	0.478													G|||	1	0.000199681	0	0.0014	5008	,	,		17499	0		0	False		,,,				2504	0															0			8						G	HIS/ARG	0,4406		0,0,2203	170	145	153		1385	5.2	1	8		153	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ELP3	NM_018091.5	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	462/548	28017873	1,13005	2203	4300	6503	28073792	SO:0001583	missense	55140				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1385G>A	8.37:g.28017873G>A	ENSP00000256398:p.Arg462His		28073792	B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	CCDS6065.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.0	4.964935	0.92855	0.0	1.16E-4	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353;ENST00000523357;ENST00000517975	.	.	.	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.89805	0.6821	H	0.98027	4.13	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70016	0.932;0.967	D	0.93157	0.6554	9	0.62326	D	0.03	-14.2666	16.5174	0.84304	0.0:0.0:1.0:0.0	.	343;462	B4DE19;Q9H9T3	.;ELP3_HUMAN	H	448;462;333;390;343;370;61;55	.	ENSP00000256398:R462H	R	+	2	0	ELP3	28073792	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.785000	0.99042	2.543000	0.85770	0.655000	0.94253	CGT		0.478	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		A	28017873	G	A	28017873	3	1	192	1	0	0	0	0	1	0	0	0	5081	1145	40	1	1435	1	ELP3	8	28017873	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	616170	28017873	118346149	25	11109											
NBN	4683	genome.wustl.edu	37	8	90982674	90982674	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr8:90982674C>T	ENST00000265433.3	-	7	968	c.814G>A	c.(814-816)Gat>Aat	p.D272N	NBN_ENST00000409330.1_Missense_Mutation_p.D190N	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	272	Interaction with MTOR, MAPKAP1 and RICTOR.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATTCCTGTATCAACAACACAC	0.388								Homologous recombination																																								0			8											106	104	104					8																	90982674		2203	4300	6503	91051850	SO:0001583	missense	4683			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.814G>A	8.37:g.90982674C>T	ENSP00000265433:p.Asp272Asn		91051850	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677955	0.68042	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.62105	0.09;0.05	5.6	5.6	0.85130	.	0.087373	0.85682	D	0.000000	T	0.76328	0.3972	M	0.75447	2.3	0.58432	D	0.999998	D;D	0.52996	0.957;0.957	P;P	0.57244	0.764;0.816	T	0.79072	-0.1953	10	0.87932	D	0	-18.8863	17.3941	0.87440	0.0:1.0:0.0:0.0	.	272;272	A6H8Y5;O60934	.;NBN_HUMAN	N	272;190;272	ENSP00000265433:D272N;ENSP00000386924:D190N	ENSP00000265433:D272N	D	-	1	0	NBN	91051850	1.000000	0.71417	0.997000	0.53966	0.129000	0.20672	4.824000	0.62701	2.627000	0.88993	0.655000	0.94253	GAT		0.388	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		T	90982674	C	T	90982674	3	4	192	1	0	0	0	0	1	0	0	0	10191	826	29	2	1490	2	NBN	8	90982674	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	62964801	90982674	55381348	26	11110											
ACTL7A	10881	genome.wustl.edu	37	9	111624725	111624725	+	Silent	SNP	C	C	T	rs570985989		TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr9:111624725C>T	ENST00000333999.3	+	1	123	c.123C>T	c.(121-123)gcC>gcT	p.A41A		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	41	Required for interaction with TES.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGAAGCGGGCCGTGTGGGTCC	0.622																																					Esophageal Squamous(177;1480 3591 17554)											0			9											44	47	46					9																	111624725		2203	4300	6503	110664546	SO:0001819	synonymous_variant	10881			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.123C>T	9.37:g.111624725C>T			110664546	B2RC83|Q5JSV0	Silent	SNP	ENST00000333999.3	37	CCDS6772.1																																																																																				0.622	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		T	111624725	C	T	111624725	2	4	192	1	0	0	0	0	0	0	0	1	200	639	23	1		1	ACTL7A	9	111624725	Silent	SNP	C	TCGA-23-1809-01A-01W-0633-09		111624725	29588706	27	11111											
PTPN3	5774	genome.wustl.edu	37	9	112199195	112199195	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr9:112199195C>T	ENST00000374541.2	-	9	747	c.643G>A	c.(643-645)Gac>Aac	p.D215N	PTPN3_ENST00000446349.1_Missense_Mutation_p.D84N|PTPN3_ENST00000262539.3_Missense_Mutation_p.D106N|PTPN3_ENST00000412145.1_Missense_Mutation_p.D84N	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	215	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCATAGAAGTCGAGGGTCCGC	0.383																																																0			9											118	108	111					9																	112199195		2203	4300	6503	111239016	SO:0001583	missense	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.643G>A	9.37:g.112199195C>T	ENSP00000363667:p.Asp215Asn		111239016	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	36	5.860110	0.97036	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.82	5.82	0.92795	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.145706	0.64402	D	0.000010	D	0.90259	0.6954	M	0.68952	2.095	0.80722	D	1	D;P;D	0.67145	0.996;0.913;0.977	P;P;P	0.57204	0.815;0.595;0.756	D	0.90691	0.4613	10	0.72032	D	0.01	.	18.8705	0.92311	0.0:1.0:0.0:0.0	.	106;215;215	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	N	215;84;84;215;106	ENSP00000416654:D84N;ENSP00000395384:D84N;ENSP00000363667:D215N;ENSP00000262539:D106N	ENSP00000262539:D106N	D	-	1	0	PTPN3	111239016	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	6.275000	0.72594	2.752000	0.94435	0.655000	0.94253	GAC		0.383	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			T	112199195	C	T	112199195	3	4	192	1	0	0	0	0	1	0	0	0	12792	884	31	1	2170	1	PTPN3	9	112199195	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	574470	112199195	29014236	28	11112											
TDRD1	56165	genome.wustl.edu	37	10	115980407	115980407	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr10:115980407G>C	ENST00000369280.1	+	19	3035	c.2575G>C	c.(2575-2577)Gcc>Ccc	p.A859P	TDRD1_ENST00000369282.1_Missense_Mutation_p.A859P|TDRD1_ENST00000422662.1_Missense_Mutation_p.A463P|TDRD1_ENST00000369281.2_Missense_Mutation_p.A745P|TDRD1_ENST00000251864.2_Missense_Mutation_p.A859P			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	859					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAATTGCAAGCCAGAGTGGT	0.393																																																0			10											123	115	117					10																	115980407		2203	4300	6503	115970397	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2575G>C	10.37:g.115980407G>C	ENSP00000358286:p.Ala859Pro		115970397	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	G	25.9	4.689631	0.88735	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.29917	2.56;2.52;1.55;2.13;2.58	5.83	5.83	0.93111	.	0.237004	0.42294	D	0.000729	T	0.58206	0.2106	M	0.76574	2.34	0.48087	D	0.999585	D;P;P;D;D	0.69078	0.997;0.955;0.892;0.973;0.975	D;P;P;P;P	0.76071	0.987;0.572;0.562;0.754;0.826	T	0.59295	-0.7481	10	0.72032	D	0.01	-12.1578	18.3179	0.90227	0.0:0.0:1.0:0.0	.	463;859;745;859;745	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	P	859;859;745;463;859	ENSP00000358288:A859P;ENSP00000251864:A859P;ENSP00000358287:A745P;ENSP00000402794:A463P;ENSP00000358286:A859P	ENSP00000251864:A859P	A	+	1	0	TDRD1	115970397	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.558000	0.73942	2.763000	0.94921	0.563000	0.77884	GCC		0.393	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			C	115980407	G	C	115980407	3	2	192	1	0	0	0	0	1	0	0	0	15730	971	34	3	2645	3	TDRD1	10	115980407	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09		115980407	19554340	29	11113											
FGFR2	2263	genome.wustl.edu	37	10	123279674	123279674	+	Missense_Mutation	SNP	G	G	C	rs77543610|rs281865420|rs387907372		TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr10:123279674G>C	ENST00000358487.5	-	7	1030	c.758C>G	c.(757-759)cCt>cGt	p.P253R	FGFR2_ENST00000369059.1_Missense_Mutation_p.P138R|FGFR2_ENST00000457416.2_Missense_Mutation_p.P253R|FGFR2_ENST00000357555.5_Missense_Mutation_p.P164R|FGFR2_ENST00000369056.1_Missense_Mutation_p.P253R|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000351936.6_Missense_Mutation_p.P253R|FGFR2_ENST00000360144.3_Missense_Mutation_p.P164R|FGFR2_ENST00000369060.4_Missense_Mutation_p.P253R|FGFR2_ENST00000478859.1_Missense_Mutation_p.P25R|FGFR2_ENST00000356226.4_Missense_Mutation_p.P138R|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000346997.2_Missense_Mutation_p.P253R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	253			P -> R (in APRS; common mutation). {ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:7668257, ECO:0000269|PubMed:7719344, ECO:0000269|PubMed:9452027, ECO:0000269|PubMed:9677057}.|SP -> FS (in PS).		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.P253R(7)|p.P253L(3)|p.P164R(1)|p.P164L(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GGGCCGGTGAGGCGATCGCTC	0.567		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																														Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	12	Substitution - Missense(12)	endometrium(8)|lung(4)	10	GRCh37	CM950459	FGFR2	M	rs77543610						58	47	50					10																	123279674		2203	4300	6503	123269664	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.758C>G	10.37:g.123279674G>C	ENSP00000351276:p.Pro253Arg		123269664	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662958	0.67700	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	T;T;T;D;T;T;D;T;T;T;T;T	0.81908	-1.44;-1.47;-1.43;-1.55;-1.45;-1.47;-1.5;-1.47;-1.46;-1.47;-1.47;-1.41	5.79	5.79	0.91817	.	0.047110	0.85682	D	0.000000	D	0.86636	0.5980	M	0.70275	2.135	0.80722	A	1	P;B;D;B;B;B;B;D;B;B	0.62365	0.563;0.086;0.966;0.001;0.011;0.211;0.003;0.991;0.035;0.323	B;B;P;B;B;P;B;P;B;B	0.47705	0.153;0.045;0.555;0.005;0.059;0.506;0.036;0.488;0.029;0.278	D	0.88096	0.2816	9	0.87932	D	0	.	20.0368	0.97565	0.0:0.0:1.0:0.0	.	272;138;253;272;253;164;138;272;164;253	D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;.;.	R	164;253;253;138;253;138;253;253;253;164;253;253;164	ENSP00000350166:P164R;ENSP00000351276:P253R;ENSP00000348559:P138R;ENSP00000358056:P253R;ENSP00000358055:P138R;ENSP00000263451:P253R;ENSP00000410294:P253R;ENSP00000309878:P253R;ENSP00000353262:P164R;ENSP00000358052:P253R;ENSP00000358054:P253R;ENSP00000337665:P164R	ENSP00000337665:P164R	P	-	2	0	FGFR2	123269664	1.000000	0.71417	0.871000	0.34182	0.805000	0.45488	9.860000	0.99555	2.735000	0.93741	0.563000	0.77884	CCT		0.567	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		C	123279674	G	C	123279674	3	2	192	1	0	0	0	0	1	0	0	0	5866	1000	35	3	2011	3	FGFR2	10	123279674	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	7299267	123279674	12255073	30	11114											
ZBTB3	79842	genome.wustl.edu	37	11	62519928	62519928	+	Silent	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr11:62519928C>T	ENST00000394807.3	-	2	1484	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						ACTCAGAAGACAGGTAAAGTG	0.537																																																0			11											67	63	65					11																	62519928		2202	4299	6501	62276504	SO:0001819	synonymous_variant	79842			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1359G>A	11.37:g.62519928C>T			62276504		Silent	SNP	ENST00000394807.3	37	CCDS8034.1																																																																																				0.537	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		T	62519928	C	T	62519928	2	4	192	1	0	0	0	0	0	0	0	1	17534	465	17	2		2	ZBTB3	11	62519928	Silent	SNP	C	TCGA-23-1809-01A-01W-0633-09		62519928	72486588	31	11115											
WDR74	54663	genome.wustl.edu	37	11	62607022	62607022	+	Silent	SNP	G	G	C	rs114810174	byFrequency	TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr11:62607022G>C	ENST00000525239.1	-	2	558	c.21C>G	c.(19-21)cgC>cgG	p.R7R	RNU2-2P_ENST00000410396.1_RNA|WDR74_ENST00000529106.1_Silent_p.R7R|WDR74_ENST00000525752.1_5'UTR|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000278856.4_Silent_p.R7R|WDR74_ENST00000311713.7_Silent_p.R7R			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	7					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						CATGGTTCCAGCGTGCAGCAG	0.667													G|||	61	0.0121805	0.0439	0.0043	5008	,	,		15014	0		0	False		,,,				2504	0															0			11						G		134,4160		0,134,2013	34	40	38		21	-1.1	0.6	11	dbSNP_132	38	1,8523		0,1,4261	yes	coding-synonymous	WDR74	NM_018093.2		0,135,6274	CC,CG,GG		0.0117,3.1206,1.0532		7/386	62607022	135,12683	2147	4262	6409	62363598	SO:0001819	synonymous_variant	54663				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.21C>G	11.37:g.62607022G>C			62363598	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Silent	SNP	ENST00000525239.1	37	CCDS44630.1																																																																																				0.667	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		C	62607022	G	C	62607022	2	2	192	1	0	0	0	0	0	0	0	1	17324	958	34	3		3	WDR74	11	62607022	Silent	SNP	G	TCGA-23-1809-01A-01W-0633-09	87094	62607022	72399494	32	11116											
MRGPRD	116512	genome.wustl.edu	37	11	68747636	68747636	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr11:68747636C>T	ENST00000309106.3	-	1	819	c.820G>A	c.(820-822)Gtc>Atc	p.V274I		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	274						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAGTAGATGACGGGGTTGGCG	0.647																																																0			11											42	42	42					11																	68747636		2200	4294	6494	68504212	SO:0001583	missense	116512			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"GPCR / Class A : Orphans"	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.820G>A	11.37:g.68747636C>T	ENSP00000310631:p.Val274Ile		68504212	Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.490700	0.00011	.	.	ENSG00000172938	ENST00000309106	T	0.32753	1.44	4.53	-9.05	0.00730	GPCR, rhodopsin-like superfamily (1);	0.904688	0.09038	N	0.857708	T	0.07593	0.0191	N	0.04746	-0.17	0.09310	N	0.999999	B	0.21520	0.057	B	0.12837	0.008	T	0.18429	-1.0337	10	0.02654	T	1	-9.3492	1.0516	0.01581	0.204:0.1724:0.2995:0.3241	.	274	Q8TDS7	MRGRD_HUMAN	I	274	ENSP00000310631:V274I	ENSP00000310631:V274I	V	-	1	0	MRGPRD	68504212	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-8.439000	0.00020	-4.304000	0.00058	-3.118000	0.00062	GTC		0.647	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		T	68747636	C	T	68747636	3	4	192	1	0	0	0	0	1	0	0	0	9763	536	19	1	148	1	MRGPRD	11	68747636	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	6140614	68747636	66258880	33	11117											
OR8B3	390271	genome.wustl.edu	37	11	124266664	124266664	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr11:124266664T>A	ENST00000354597.3	-	1	600	c.584A>T	c.(583-585)aAc>aTc	p.N195I		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AACCACCTCGTTGACATAGGT	0.428																																																0			11											89	92	91					11																	124266664		2201	4299	6500	123771874	SO:0001583	missense	390271			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.584A>T	11.37:g.124266664T>A	ENSP00000346611:p.Asn195Ile		123771874	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	9.136	1.012511	0.19277	.	.	ENSG00000196661	ENST00000354597	T	0.00231	8.49	3.62	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.090718	0.47852	D	0.000209	T	0.00210	0.0006	L	0.41710	1.295	0.23425	N	0.997704	D	0.55172	0.97	P	0.51742	0.678	T	0.50423	-0.8830	10	0.62326	D	0.03	.	2.9325	0.05804	0.2931:0.2972:0.0:0.4097	.	195	Q8NGG8	OR8B3_HUMAN	I	195	ENSP00000346611:N195I	ENSP00000346611:N195I	N	-	2	0	OR8B3	123771874	0.027000	0.19231	0.108000	0.21378	0.170000	0.22686	1.164000	0.31810	0.250000	0.21479	0.454000	0.30748	AAC		0.428	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		A	124266664	T	A	124266664	3	1	192	1	0	0	0	0	1	0	0	0	11228	1725	60	5	359	5	OR8B3	11	124266664	Missense_Mutation	SNP	T	TCGA-23-1809-01A-01W-0633-09	55519028	124266664	10739852	34	11118											
MVK	4598	genome.wustl.edu	37	12	110019277	110019277	+	Missense_Mutation	SNP	C	C	T	rs104895310		TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr12:110019277C>T	ENST00000228510.3	+	5	525	c.449C>T	c.(448-450)tCg>tTg	p.S150L	MVK_ENST00000535044.1_Intron|MVK_ENST00000392727.3_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	150			S -> L (in HIDS). {ECO:0000269|PubMed:11313769}.		cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GCCGCCTACTCGGTGTGTCTG	0.637																																																0			12	GRCh37	CM010934	MVK	M							71	69	70					12																	110019277		2203	4300	6503	108503660	SO:0001583	missense	4598			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.449C>T	12.37:g.110019277C>T	ENSP00000228510:p.Ser150Leu		108503660		Missense_Mutation	SNP	ENST00000228510.3	37	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175779	0.78564	.	.	ENSG00000110921	ENST00000539335;ENST00000546277;ENST00000228510	D;D;D	0.85702	-2.02;-2.02;-2.02	5.15	5.15	0.70609	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.394630	0.28946	N	0.013634	D	0.89336	0.6686	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.63877	0.919	D	0.90122	0.4200	10	0.72032	D	0.01	-19.1924	14.1183	0.65169	0.0:1.0:0.0:0.0	.	150	Q03426	KIME_HUMAN	L	150	ENSP00000440379:S150L;ENSP00000438153:S150L;ENSP00000228510:S150L	ENSP00000228510:S150L	S	+	2	0	MVK	108503660	0.978000	0.34361	0.984000	0.44739	0.672000	0.39443	2.453000	0.44970	2.395000	0.81488	0.655000	0.94253	TCG		0.637	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		T	110019277	C	T	110019277	3	4	192	1	0	0	0	0	1	0	0	0	9995	893	31	1	463	1	MVK	12	110019277	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09		110019277	23832618	35	11119											
C12orf51	283450	genome.wustl.edu	37	12	112621071	112621071	+	Splice_Site	SNP	C	C	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr12:112621071C>A	ENST00000430131.2	-	61	10659		c.e61-1		HECTD4_ENST00000550722.1_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGGATCTTATCTGTGTGAACA	0.408																																																0			12											106	106	106					12																	112621071		1852	4100	5952	111105454	SO:0001630	splice_region_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9514-1G>T	12.37:g.112621071C>A			111105454	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Splice_Site	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.021060	0.93462	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8351	0.96655	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf51	111105454	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.153000	0.77428	2.687000	0.91594	0.655000	0.94253	.		0.408	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	Intron	A	112621071	C	A	112621071	5	1	192	1	0	0	0	0	0	0	1	0	1696	927	32	3	2537	3	C12orf51	12	112621071	Splice_Site	SNP	C	TCGA-23-1809-01A-01W-0633-09	2601794	112621071	21230824	36	11120											
SLC25A15	10166	genome.wustl.edu	37	13	41381594	41381594	+	Missense_Mutation	SNP	A	A	G	rs576852849		TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr13:41381594A>G	ENST00000338625.4	+	5	853	c.617A>G	c.(616-618)gAa>gGa	p.E206G	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	206					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TCAAAAGATGAATTAGGTAAA	0.468																																																0			13											133	126	128					13																	41381594		2203	4300	6503	40279594	SO:0001583	missense	10166			AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"Solute carriers"	10985	protein-coding gene	gene with protein product	"ornithine transporter 1"	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.617A>G	13.37:g.41381594A>G	ENSP00000342267:p.Glu206Gly		40279594	Q5VZD8|Q9HC45	Missense_Mutation	SNP	ENST00000338625.4	37	CCDS9373.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560815	0.65538	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	T	0.78707	-1.2	5.46	5.46	0.80206	Mitochondrial carrier domain (2);	0.095292	0.64402	D	0.000001	T	0.75759	0.3893	L	0.58302	1.8	0.54753	D	0.999989	B;B	0.21225	0.053;0.02	B;B	0.25759	0.063;0.033	T	0.72852	-0.4167	10	0.46703	T	0.11	.	15.0131	0.71565	1.0:0.0:0.0:0.0	.	146;206	B4DL63;Q9Y619	.;ORNT1_HUMAN	G	206;146	ENSP00000342267:E206G	ENSP00000342267:E206G	E	+	2	0	SLC25A15	40279594	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.896000	0.69822	2.199000	0.70637	0.455000	0.32223	GAA		0.468	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252		G	41381594	A	G	41381594	3	3	192	1	0	0	0	0	1	0	0	0	14480	246	9	4	631	4	SLC25A15	13	41381594	Missense_Mutation	SNP	A	TCGA-23-1809-01A-01W-0633-09		41381594	73788284	37	11121											
OR4N2	390429	genome.wustl.edu	37	14	20296116	20296116	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr14:20296116G>A	ENST00000315947.1	+	1	509	c.509G>A	c.(508-510)gGc>gAc	p.G170D	OR4N2_ENST00000568211.1_Missense_Mutation_p.G170D	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTTTTGTGGCCCAAACCAG	0.517																																																0			14											127	134	132					14																	20296116		2203	4297	6500	19365956	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.509G>A	14.37:g.20296116G>A	ENSP00000319601:p.Gly170Asp		19365956	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.758058	0.69648	.	.	ENSG00000176294	ENST00000315947	T	0.38887	1.11	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.126944	0.36167	N	0.002759	T	0.66848	0.2831	M	0.82630	2.6	0.30102	N	0.807326	D	0.89917	1.0	D	0.97110	1.0	T	0.68819	-0.5308	10	0.87932	D	0	-7.0683	15.0916	0.72198	0.0:0.0:1.0:0.0	.	170	Q8NGD1	OR4N2_HUMAN	D	170	ENSP00000319601:G170D	ENSP00000319601:G170D	G	+	2	0	OR4N2	19365956	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.917000	0.56424	2.483000	0.83821	0.585000	0.79938	GGC		0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20296116	G	A	20296116	3	1	192	1	0	0	0	0	1	0	0	0	11077	1203	42	2	511	2	OR4N2	14	20296116	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09		20296116	87053424	38	11122											
TIMM9	26520	genome.wustl.edu	37	14	58875825	58875825	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr14:58875825C>G	ENST00000395159.2	-	6	722	c.197G>C	c.(196-198)aGa>aCa	p.R66T	TIMM9_ENST00000555061.1_Missense_Mutation_p.R66T|TIMM9_ENST00000216463.4_5'UTR|TIMM9_ENST00000555404.1_Missense_Mutation_p.R66T|TIMM9_ENST00000555593.1_Missense_Mutation_p.R66T|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000556007.2_Intron	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)	66					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			kidney(2)|skin(1)	3						TTCCTGAAATCTCATGGATAT	0.403																																																0			14											99	90	93					14																	58875825		2203	4300	6503	57945578	SO:0001583	missense	26520			AF150100	CCDS9735.1	14q22.3-q24	2008-07-04	2001-11-28		ENSG00000100575	ENSG00000100575			11819	protein-coding gene	gene with protein product		607384	"translocase of inner mitochondrial membrane 9 (yeast) homolog"			10552927, 14726512	Standard	NM_012460		Approved	TIM9A	uc001xds.3	Q9Y5J7	OTTHUMG00000140322	ENST00000395159.2:c.197G>C	14.37:g.58875825C>G	ENSP00000378588:p.Arg66Thr		57945578	B2R584	Missense_Mutation	SNP	ENST00000395159.2	37	CCDS9735.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744593	0.89663	.	.	ENSG00000100575	ENST00000395159;ENST00000555593;ENST00000555061;ENST00000555404	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.55	5.55	0.83447	.	0.045286	0.85682	D	0.000000	T	0.81361	0.4806	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82748	-0.0304	9	0.87932	D	0	-17.8487	19.2868	0.94082	0.0:1.0:0.0:0.0	.	66	Q9Y5J7	TIM9_HUMAN	T	66	ENSP00000378588:R66T;ENSP00000451006:R66T;ENSP00000450638:R66T;ENSP00000451198:R66T	ENSP00000216463:R66T	R	-	2	0	TIMM9	57945578	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.512000	0.81728	2.885000	0.99019	0.655000	0.94253	AGA		0.403	TIMM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276936.2			G	58875825	C	G	58875825	3	3	192	1	0	0	0	0	1	0	0	0	15916	913	32	3	76	3	TIMM9	14	58875825	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	38579709	58875825	48473715	39	11123											
TMEM63C	57156	genome.wustl.edu	37	14	77705773	77705773	+	Silent	SNP	T	T	C	rs116434167	byFrequency	TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr14:77705773T>C	ENST00000298351.4	+	11	888	c.744T>C	c.(742-744)agT>agC	p.S248S		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	248					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ATCCAGGCAGTGTCGTGACAA	0.642													T|||	88	0.0175719	0.0628	0.0058	5008	,	,		17800	0.001		0	False		,,,				2504	0															0			14						T		201,3913		1,199,1857	50	55	53		744	-1.1	0.1	14	dbSNP_132	53	2,8394		0,2,4196	no	coding-synonymous	TMEM63C	NM_020431.2		1,201,6053	CC,CT,TT		0.0238,4.8858,1.6227		248/807	77705773	203,12307	2057	4198	6255	76775526	SO:0001819	synonymous_variant	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.744T>C	14.37:g.77705773T>C			76775526	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	CCDS45141.1																																																																																				0.642	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			C	77705773	T	C	77705773	2	2	192	1	0	0	0	0	0	0	0	1	16192	1693	59	4		4	TMEM63C	14	77705773	Silent	SNP	T	TCGA-23-1809-01A-01W-0633-09	18829948	77705773	29643767	40	11124											
BAIAP3	8938	genome.wustl.edu	37	16	1388909	1388909	+	Silent	SNP	C	C	T	rs77633104	byFrequency	TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr16:1388909C>T	ENST00000324385.5	+	3	401	c.243C>T	c.(241-243)ccC>ccT	p.P81P	BAIAP3_ENST00000568887.1_Silent_p.P46P|BAIAP3_ENST00000426824.3_Silent_p.P46P|BAIAP3_ENST00000421665.2_Silent_p.P46P|BAIAP3_ENST00000562208.1_Silent_p.P46P|BAIAP3_ENST00000397488.2_Silent_p.P46P|BAIAP3_ENST00000397489.1_Silent_p.P46P	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	81					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCAGGAAACCCGGGGATGGCG	0.647													C|||	207	0.0413339	0.0908	0.0259	5008	,	,		17156	0		0.0179	False		,,,				2504	0.0521															0			16						C	,,,,	417,3981	202.8+/-225.5	15,387,1797	81	87	85		138,138,138,138,243	-8.1	0.1	16	dbSNP_132	85	131,8469	67.0+/-129.4	0,131,4169	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	15,518,5966	TT,TC,CC		1.5233,9.4816,4.216	,,,,	46/1117,46/1153,46/1130,46/1125,81/1188	1388909	548,12450	2199	4300	6499	1328910	SO:0001819	synonymous_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.243C>T	16.37:g.1388909C>T			1328910	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	CCDS10434.1																																																																																				0.647	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			T	1388909	C	T	1388909	2	4	192	1	0	0	0	0	0	0	0	1	1304	639	23	1		1	BAIAP3	16	1388909	Silent	SNP	C	TCGA-23-1809-01A-01W-0633-09		1388909	88965844	41	11125											
ZFHX3	463	genome.wustl.edu	37	16	72832395	72832395	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr16:72832395G>A	ENST00000268489.5	-	9	4858	c.4186C>T	c.(4186-4188)Cgc>Tgc	p.R1396C	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R482C	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1396					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TACACATGGCGATCTGACACC	0.502																																																0			16											162	142	149					16																	72832395		2198	4300	6498	71389896	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4186C>T	16.37:g.72832395G>A	ENSP00000268489:p.Arg1396Cys		71389896	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836117	0.50951	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76839	-1.05;-1.05	5.94	5.94	0.96194	.	0.000000	0.51477	D	0.000097	D	0.89019	0.6596	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.89105	0.3492	10	0.87932	D	0	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	1396	Q15911	ZFHX3_HUMAN	C	1396;482	ENSP00000268489:R1396C;ENSP00000438926:R482C	ENSP00000268489:R1396C	R	-	1	0	ZFHX3	71389896	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	9.869000	0.99810	2.826000	0.97356	0.561000	0.74099	CGC		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72832395	G	A	72832395	3	1	192	1	0	0	0	0	1	0	0	0	17634	1058	37	1	6933	1	ZFHX3	16	72832395	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	71443486	72832395	17522358	42	11126											
FLCN	201163	genome.wustl.edu	37	17	17125975	17125975	+	Splice_Site	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr17:17125975C>T	ENST00000285071.4	-	7	1073	c.619G>A	c.(619-621)Gtg>Atg	p.V207M	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Splice_Site_p.V207M	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	207					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCCTCAAACACCTGAAATGCA	0.582									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																							0			17											111	85	94					17																	17125975		2203	4300	6503	17066700	SO:0001630	splice_region_variant	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.619-1G>A	17.37:g.17125975C>T			17066700	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970070	0.92855	.	.	ENSG00000154803	ENST00000285071;ENST00000389169	D;D	0.89270	-2.49;-2.49	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.92897	0.6336	10	0.33141	T	0.24	-33.1454	19.5045	0.95110	0.0:1.0:0.0:0.0	.	207;207	Q8NFG4-2;Q8NFG4	.;FLCN_HUMAN	M	207	ENSP00000285071:V207M;ENSP00000373821:V207M	ENSP00000285071:V207M	V	-	1	0	FLCN	17066700	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.017000	0.76399	2.623000	0.88846	0.462000	0.41574	GTG		0.582	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606	Missense_Mutation	T	17125975	C	T	17125975	5	4	192	1	0	0	0	0	0	0	1	0	5921	521	18	2	1310	2	FLCN	17	17125975	Splice_Site	SNP	C	TCGA-23-1809-01A-01W-0633-09		17125975	64069235	43	11127											
KRT19	3880	genome.wustl.edu	37	17	39680089	39680089	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr17:39680089T>C	ENST00000361566.3	-	6	1169	c.1109A>G	c.(1108-1110)aAg>aGg	p.K370R	KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393974.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	370	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CAGCCGCGACTTGATGTCCAT	0.577																																																0			17											58	53	54					17																	39680089		2203	4300	6503	36933615	SO:0001583	missense	3880				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.1109A>G	17.37:g.39680089T>C	ENSP00000355124:p.Lys370Arg		36933615	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416496	0.83449	.	.	ENSG00000171345	ENST00000361566	D	0.94376	-3.41	4.99	4.99	0.66335	Filament (1);	0.000000	0.49305	D	0.000150	D	0.97065	0.9041	M	0.91768	3.24	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.96844	0.9620	10	0.30854	T	0.27	.	14.7481	0.69505	0.0:0.0:0.0:1.0	.	533;370	B4DE59;P08727	.;K1C19_HUMAN	R	370	ENSP00000355124:K370R	ENSP00000355124:K370R	K	-	2	0	KRT19	36933615	1.000000	0.71417	0.953000	0.39169	0.990000	0.78478	7.947000	0.87758	1.882000	0.54519	0.454000	0.30748	AAG		0.577	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		C	39680089	T	C	39680089	3	2	192	1	0	0	0	0	1	0	0	0	8456	1609	56	4	97	4	KRT19	17	39680089	Missense_Mutation	SNP	T	TCGA-23-1809-01A-01W-0633-09	22554114	39680089	41515121	44	11128											
DSC2	1824	genome.wustl.edu	37	18	28662381	28662381	+	Silent	SNP	T	T	C			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr18:28662381T>C	ENST00000280904.6	-	9	1529	c.1086A>G	c.(1084-1086)acA>acG	p.T362T	DSC2_ENST00000251081.6_Silent_p.T362T	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	362	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTCCACTGATGTCACATACT	0.318																																																0			18											69	66	67					18																	28662381		2200	4299	6499	26916379	SO:0001819	synonymous_variant	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1086A>G	18.37:g.28662381T>C			26916379		Silent	SNP	ENST00000280904.6	37	CCDS11892.1																																																																																				0.318	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		C	28662381	T	C	28662381	2	2	192	1	0	0	0	0	0	0	0	1	4766	1451	51	4		4	DSC2	18	28662381	Silent	SNP	T	TCGA-23-1809-01A-01W-0633-09		28662381	49414867	45	11129											
ZNF24	7572	genome.wustl.edu	37	18	32919936	32919936	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr18:32919936G>C	ENST00000261332.6	-	3	604	c.425C>G	c.(424-426)tCt>tGt	p.S142C	ZNF24_ENST00000399061.3_Missense_Mutation_p.S142C|ZNF24_ENST00000589881.1_Missense_Mutation_p.S142C	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	142					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCGACGGAGAGAAACCTGGAA	0.418																																					Colon(42;769 913 8916 19469 46270)											0			18											83	79	80					18																	32919936		2203	4300	6503	31173934	SO:0001583	missense	7572			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.425C>G	18.37:g.32919936G>C	ENSP00000261332:p.Ser142Cys		31173934	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635885	0.67130	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.05382	3.45;3.45	5.5	5.5	0.81552	Transcription regulator SCAN (1);	0.000000	0.56097	D	0.000034	T	0.09069	0.0224	N	0.08118	0	0.38509	D	0.948429	P;D	0.63046	0.921;0.992	P;P	0.60117	0.753;0.869	T	0.48854	-0.8998	10	0.34782	T	0.22	.	15.2701	0.73693	0.0:0.0:1.0:0.0	.	142;142	P17028-2;P17028	.;ZNF24_HUMAN	C	142	ENSP00000261332:S142C;ENSP00000382015:S142C	ENSP00000261332:S142C	S	-	2	0	ZNF24	31173934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.100000	0.50275	2.771000	0.95319	0.655000	0.94253	TCT		0.418	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		C	32919936	G	C	32919936	3	2	192	1	0	0	0	0	1	0	0	0	17792	942	33	3	689	3	ZNF24	18	32919936	Missense_Mutation	SNP	G	TCGA-23-1809-01A-01W-0633-09	4257555	32919936	45157312	46	11130											
ZNF404	342908	genome.wustl.edu	37	19	44377031	44377031	+	Silent	SNP	T	T	C			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr19:44377031T>C	ENST00000587539.1	-	3	1334	c.1335A>G	c.(1333-1335)ggA>ggG	p.G445G	ZNF404_ENST00000324394.6_Silent_p.G443G	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TAAAGGTTTTTCCACATTCCT	0.368																																																0			19																																								49068871	SO:0001819	synonymous_variant	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1335A>G	19.37:g.44377031T>C			49068871	A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	CCDS59394.1																																																																																				0.368	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		C	44377031	T	C	44377031	2	2	192	1	0	0	0	0	0	0	0	1	17886	1770	62	4		4	ZNF404	19	44377031	Silent	SNP	T	TCGA-23-1809-01A-01W-0633-09		44377031	14751952	47	11131											
PTPRH	5794	genome.wustl.edu	37	19	55696927	55696927	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr19:55696927A>G	ENST00000376350.3	-	18	3027	c.3005T>C	c.(3004-3006)aTg>aCg	p.M1002T	PTPRH_ENST00000263434.5_Missense_Mutation_p.M824T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1002	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGCCGAAGCATCCTCCAGAA	0.627																																																0			19											58	50	53					19																	55696927		2203	4300	6503	60388739	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3005T>C	19.37:g.55696927A>G	ENSP00000365528:p.Met1002Thr		60388739	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310720	0.23821	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.82984	-1.67;-1.67	5.21	3.09	0.35607	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.838721	0.10022	N	0.725851	T	0.67002	0.2847	N	0.16903	0.455	0.09310	N	1	B;B	0.27013	0.077;0.166	B;B	0.19148	0.011;0.024	T	0.51124	-0.8745	10	0.21014	T	0.42	.	6.6468	0.22939	0.7861:0.0:0.0768:0.1371	.	824;1002	C9JCH2;Q9HD43	.;PTPRH_HUMAN	T	1002;824	ENSP00000365528:M1002T;ENSP00000263434:M824T	ENSP00000263434:M824T	M	-	2	0	PTPRH	60388739	0.000000	0.05858	0.004000	0.12327	0.326000	0.28443	1.126000	0.31344	0.387000	0.25024	-0.341000	0.08007	ATG		0.627	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			G	55696927	A	G	55696927	3	3	192	1	0	0	0	0	1	0	0	0	12806	217	8	4	354	4	PTPRH	19	55696927	Missense_Mutation	SNP	A	TCGA-23-1809-01A-01W-0633-09	11319896	55696927	3432056	48	11132											
SIGLEC1	6614	genome.wustl.edu	37	20	3674875	3674875	+	Silent	SNP	G	G	A	rs79525664	byFrequency	TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr20:3674875G>A	ENST00000344754.4	-	12	3248	c.3249C>T	c.(3247-3249)gaC>gaT	p.D1083D	SIGLEC1_ENST00000202578.4_Silent_p.D1083D	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1083	Ig-like C2-type 10.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GACCTTGAGCGTCGAAGTCAG	0.572													G|||	32	0.00638978	0.0212	0.0014	5008	,	,		14821	0.003		0	False		,,,				2504	0															0			20						G		55,4295		1,53,2121	55	45	49		3249	-1.1	0.7	20	dbSNP_132	49	4,8414		0,4,4205	no	coding-synonymous	SIGLEC1	NM_023068.3		1,57,6326	AA,AG,GG		0.0475,1.2644,0.4621		1083/1710	3674875	59,12709	2175	4209	6384	3622875	SO:0001819	synonymous_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3249C>T	20.37:g.3674875G>A			3622875	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1																																																																																				0.572	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		A	3674875	G	A	3674875	2	1	192	1	0	0	0	0	0	0	0	1	14308	1136	40	1		1	SIGLEC1	20	3674875	Silent	SNP	G	TCGA-23-1809-01A-01W-0633-09		3674875	59350645	49	11133											
DNAJC5	80331	genome.wustl.edu	37	20	62562232	62562232	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr20:62562232C>T	ENST00000360864.4	+	4	503	c.350C>T	c.(349-351)aCg>aTg	p.T117M	DNAJC5_ENST00000369911.2_Missense_Mutation_p.T117M	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	117					cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGCCTCCTCACGtgctgctac	0.622																																																0			20											84	75	78					20																	62562232		2203	4299	6502	62032676	SO:0001583	missense	80331				CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"Heat shock proteins / DNAJ (HSP40)"	16235	protein-coding gene	gene with protein product		611203	"ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.350C>T	20.37:g.62562232C>T	ENSP00000354111:p.Thr117Met		62032676	A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	ENST00000360864.4	37	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041520	0.93685	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.72942	-0.63;-0.7	5.91	5.91	0.95273	.	0.114243	0.64402	D	0.000020	D	0.87822	0.6274	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72338	0.944;0.977	D	0.89018	0.3433	10	0.72032	D	0.01	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	117;117	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	M	117	ENSP00000358927:T117M;ENSP00000354111:T117M	ENSP00000354111:T117M	T	+	2	0	DNAJC5	62032676	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.297000	0.65704	2.808000	0.96608	0.655000	0.94253	ACG		0.622	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		T	62562232	C	T	62562232	3	4	192	1	0	0	0	0	1	0	0	0	4650	536	19	1	360	1	DNAJC5	20	62562232	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	58887357	62562232	463288	50	11134											
NCAM2	4685	genome.wustl.edu	37	21	22664541	22664541	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr21:22664541A>T	ENST00000400546.1	+	5	848	c.599A>T	c.(598-600)gAt>gTt	p.D200V	NCAM2_ENST00000535285.1_Missense_Mutation_p.D225V|NCAM2_ENST00000284894.7_Missense_Mutation_p.D58V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	200	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GACTTCCGTGATATCATTGTT	0.338																																																0			21											156	156	156					21																	22664541		1836	4095	5931	21586412	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.599A>T	21.37:g.22664541A>T	ENSP00000383392:p.Asp200Val		21586412	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130903	0.56828	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.76316	1.74;-1.01;1.74	5.48	5.48	0.80851	.	0.044202	0.85682	D	0.000000	T	0.81088	0.4750	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.66351	0.931;0.943;0.943	T	0.80970	-0.1144	10	0.41790	T	0.15	-30.0262	14.6778	0.68993	1.0:0.0:0.0:0.0	.	225;58;200	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	V	200;58;225	ENSP00000383392:D200V;ENSP00000284894:D58V;ENSP00000441887:D225V	ENSP00000284894:D58V	D	+	2	0	NCAM2	21586412	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.970000	0.49240	2.206000	0.71126	0.533000	0.62120	GAT		0.338	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		T	22664541	A	T	22664541	3	4	192	1	0	0	0	0	1	0	0	0	10203	333	12	5	617	5	NCAM2	21	22664541	Missense_Mutation	SNP	A	TCGA-23-1809-01A-01W-0633-09		22664541	25465354	51	11135											
TOP3B	8940	genome.wustl.edu	37	22	22324757	22324757	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr22:22324757C>T	ENST00000398793.2	-	6	840	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.V136I	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	136	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTGTTCATGACGGGCAGAACA	0.607																																																0			22											67	57	60					22																	22324757		2203	4300	6503	20654757	SO:0001583	missense	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.406G>A	22.37:g.22324757C>T	ENSP00000381773:p.Val136Ile		20654757	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229377	0.39399	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.22743	1.94;1.94;1.94	4.87	3.85	0.44370	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);	0.129763	0.52532	N	0.000074	T	0.22627	0.0546	M	0.74467	2.265	0.80722	D	1	B	0.19200	0.034	B	0.16289	0.015	T	0.04767	-1.0928	10	0.16420	T	0.52	.	10.6385	0.45579	0.0:0.845:0.0:0.155	.	136	O95985	TOP3B_HUMAN	I	136	ENSP00000349705:V136I;ENSP00000381773:V136I;ENSP00000390977:V136I	ENSP00000349705:V136I	V	-	1	0	TOP3B	20654757	1.000000	0.71417	0.900000	0.35374	0.684000	0.39900	4.799000	0.62517	1.290000	0.44636	0.561000	0.74099	GTC		0.607	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		T	22324757	C	T	22324757	3	4	192	1	0	0	0	0	1	0	0	0	16368	536	19	1	2234	1	TOP3B	22	22324757	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09		22324757	28979809	52	11136											
HDAC10	83933	genome.wustl.edu	37	22	50684515	50684515	+	Missense_Mutation	SNP	C	C	T	rs138919111	byFrequency	TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chr22:50684515C>T	ENST00000216271.5	-	18	2009	c.1657G>A	c.(1657-1659)Ggt>Agt	p.G553S	HDAC10_ENST00000498366.1_5'UTR|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.G533S|HDAC10_ENST00000448072.1_Missense_Mutation_p.G503S|TUBGCP6_ENST00000439308.2_5'Flank	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	553					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGAAACCACCGGTCATCTGT	0.647													C|||	11	0.00219649	0.0083	0	5008	,	,		18272	0		0	False		,,,				2504	0															0			22						C	SER/GLY,SER/GLY	26,4376	32.6+/-62.9	0,26,2175	43	45	44		1597,1657	4.8	0.5	22	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	HDAC10	NM_001159286.1,NM_032019.5	56,56	0,27,6474	TT,TC,CC		0.0116,0.5906,0.2077	benign,benign	533/650,553/670	50684515	27,12975	2201	4300	6501	49026642	SO:0001583	missense	83933			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1657G>A	22.37:g.50684515C>T	ENSP00000216271:p.Gly553Ser		49026642	Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	CCDS14088.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.75	2.331549	0.41297	0.005906	1.16E-4	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.28666	1.6;1.6;1.6	4.8	4.8	0.61643	Histone deacetylase domain (1);	0.371913	0.22522	N	0.058959	T	0.19725	0.0474	L	0.54323	1.7	0.80722	D	1	P;B;P;P	0.48503	0.911;0.003;0.911;0.855	B;B;B;B	0.36989	0.238;0.002;0.238;0.12	T	0.03157	-1.1066	10	0.31617	T	0.26	-17.6656	13.5279	0.61605	0.0:1.0:0.0:0.0	.	533;503;553;553	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	S	553;503;533	ENSP00000216271:G553S;ENSP00000397542:G503S;ENSP00000343540:G533S	ENSP00000216271:G553S	G	-	1	0	HDAC10	49026642	0.147000	0.22687	0.546000	0.28166	0.220000	0.24768	1.808000	0.38912	2.641000	0.89580	0.561000	0.74099	GGT		0.647	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		T	50684515	C	T	50684515	3	4	192	1	0	0	0	0	1	0	0	0	7005	652	23	1	364	1	HDAC10	22	50684515	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	28359758	50684515	620051	53	11137											
FGD1	2245	genome.wustl.edu	37	X	54472831	54472831	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chrX:54472831C>T	ENST00000375135.3	-	18	3330	c.2597G>A	c.(2596-2598)cGc>cAc	p.R866H		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	866	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGCAGGCTGCGCTGGGCTTT	0.632																																																0			X											25	21	23					X																	54472831		2202	4300	6502	54489556	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2597G>A	X.37:g.54472831C>T	ENSP00000364277:p.Arg866His		54489556	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225287	0.58668	.	.	ENSG00000102302	ENST00000375135	T	0.12361	2.69	5.79	5.79	0.91817	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.53938	D	0.000046	T	0.15998	0.0385	L	0.50333	1.59	0.47584	D	0.999462	P	0.40083	0.702	B	0.37780	0.258	T	0.03287	-1.1052	10	0.24483	T	0.36	-15.4332	17.6058	0.88037	0.0:1.0:0.0:0.0	.	866	P98174	FGD1_HUMAN	H	866	ENSP00000364277:R866H	ENSP00000364277:R866H	R	-	2	0	FGD1	54489556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.124000	0.57924	2.429000	0.82318	0.513000	0.50165	CGC		0.632	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		T	54472831	C	T	54472831	3	4	192	1	0	0	0	0	1	0	0	0	5832	768	27	1	292	1	FGD1	23	54472831	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09		54472831	100797729	54	11138											
TBC1D8B	54885	genome.wustl.edu	37	X	106070472	106070472	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1809-01A-01W-0633-09	TCGA-23-1809-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dd837ff4-200c-4a34-8041-32e8bea0735d	0a8ad60d-da44-4fce-8678-59772304d75f	g.chrX:106070472C>T	ENST00000357242.5	+	7	1282	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R370C|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.R370C|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.R370C	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	370							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AACAGCTTTTCGCTTCCATGA	0.388																																																0			X											105	105	105					X																	106070472		2203	4300	6503	105957128	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1108C>T	X.37:g.106070472C>T	ENSP00000349781:p.Arg370Cys		105957128	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.329037	0.81690	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.23348	3.12;2.52;1.91;3.1	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.95;0.996	T	0.53500	-0.8430	10	0.49607	T	0.09	-7.8169	16.5658	0.84599	0.0:1.0:0.0:0.0	.	370;370;370	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	C	370	ENSP00000349781:R370C;ENSP00000310675:R370C;ENSP00000421375:R370C;ENSP00000276175:R370C	ENSP00000276175:R370C	R	+	1	0	TBC1D8B	105957128	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	6.915000	0.75770	2.219000	0.72066	0.502000	0.49764	CGC		0.388	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		T	106070472	C	T	106070472	3	4	192	1	0	0	0	0	1	0	0	0	15626	884	31	1	1134	1	TBC1D8B	23	106070472	Missense_Mutation	SNP	C	TCGA-23-1809-01A-01W-0633-09	51597641	106070472	49200088	55	11139											
LRRC40	55631	broad.mit.edu	37	1	70650576	70650576	+	Silent	SNP	G	G	C	rs75077715		TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr1:70650576G>C	ENST00000370952.3	-	4	508	c.429C>G	c.(427-429)ctC>ctG	p.L143L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	143						membrane (GO:0016020)		p.L143L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTTCTTCAGGGAGTATTTTCA	0.308																																																1	Substitution - coding silent(1)	ovary(1)	1											142	143	143					1																	70650576		2202	4300	6502	70423164	SO:0001819	synonymous_variant	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.429C>G	1.37:g.70650576G>C			70423164	Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	ENST00000370952.3	37	CCDS646.1																																																																																				0.308	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		C	70650576	G	C	70650576	2	2	193	1	0	0	0	0	0	0	0	1	8998	1161	41	3		3	LRRC40	1	70650576	Silent	SNP	G	TCGA-23-2072-01A-01W-0722-08		70650576	178600045	1	11140											
KCND3	3752	broad.mit.edu	37	1	112524271	112524271	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr1:112524271A>G	ENST00000315987.2	-	2	1557	c.1078T>C	c.(1078-1080)Tac>Cac	p.Y360H	KCND3_ENST00000302127.4_Missense_Mutation_p.Y360H|KCND3_ENST00000369697.1_Missense_Mutation_p.Y360H	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	360					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.Y360H(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ACAATGGTGTACCAAAACGAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											106	88	94					1																	112524271		2203	4300	6503	112325794	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1078T>C	1.37:g.112524271A>G	ENSP00000319591:p.Tyr360His		112325794	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.780927	0.70222	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97620	-4.46;-4.46;-4.46	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99826	1.1050	10	0.87932	D	0	.	15.4356	0.75143	1.0:0.0:0.0:0.0	.	360;360	Q14D71;Q9UK17	.;KCND3_HUMAN	H	360	ENSP00000358711:Y360H;ENSP00000319591:Y360H;ENSP00000306923:Y360H	ENSP00000306923:Y360H	Y	-	1	0	KCND3	112325794	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.130000	0.65690	0.533000	0.62120	TAC		0.542	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		G	112524271	A	G	112524271	3	3	193	1	0	0	0	0	1	0	0	0	8020	391	14	4	917	4	KCND3	1	112524271	Missense_Mutation	SNP	A	TCGA-23-2072-01A-01W-0722-08	41873695	112524271	136726350	2	11141											
KCTD3	51133	broad.mit.edu	37	1	215785206	215785206	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr1:215785206A>G	ENST00000259154.4	+	15	1799	c.1505A>G	c.(1504-1506)cAg>cGg	p.Q502R		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	502					protein homooligomerization (GO:0051260)			p.Q502R(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTGTTTATCCAGAAAGTTGTT	0.313																																																1	Substitution - Missense(1)	ovary(1)	1											92	98	96					1																	215785206		2203	4300	6503	213851829	SO:0001583	missense	51133			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1505A>G	1.37:g.215785206A>G	ENSP00000259154:p.Gln502Arg		213851829	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.882327	0.91740	.	.	ENSG00000136636	ENST00000259154;ENST00000366946	T	0.52754	0.65	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;0.999;1.0	D;D;D;D	0.91635	0.986;0.997;0.997;0.999	T	0.78489	-0.2184	10	0.87932	D	0	-19.2743	14.9223	0.70847	1.0:0.0:0.0:0.0	.	254;254;502;502	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	R	502;154	ENSP00000259154:Q502R	ENSP00000259154:Q502R	Q	+	2	0	KCTD3	213851829	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.887000	0.92456	2.114000	0.64651	0.383000	0.25322	CAG		0.313	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		G	215785206	A	G	215785206	3	3	193	1	0	0	0	0	1	0	0	0	8110	188	7	4	1563	4	KCTD3	1	215785206	Missense_Mutation	SNP	A	TCGA-23-2072-01A-01W-0722-08	103260935	215785206	33465415	3	11142											
LYST	1130	broad.mit.edu	37	1	235840882	235840882	+	Missense_Mutation	SNP	T	T	C	rs151167023		TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr1:235840882T>C	ENST00000389794.3	-	49	11012	c.10838A>G	c.(10837-10839)tAt>tGt	p.Y3613C	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.Y3613C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3613					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.Y3613C(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTGTGACCATAGAGATGTAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	1						T	CYS/TYR	0,4406		0,0,2203	147	130	136		10838	5.7	1	1	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense	LYST	NM_000081.2	194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	3613/3802	235840882	1,13005	2203	4300	6503	233907505	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10838A>G	1.37:g.235840882T>C	ENSP00000374444:p.Tyr3613Cys		233907505	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388862	0.82902	0.0	1.16E-4	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.28895	1.59;1.59	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.33245	0.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46373	-0.9196	10	0.87932	D	0	.	15.9462	0.79796	0.0:0.0:0.0:1.0	.	3613	Q99698	LYST_HUMAN	C	3613	ENSP00000374444:Y3613C;ENSP00000374443:Y3613C	ENSP00000374443:Y3613C	Y	-	2	0	LYST	233907505	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.950000	0.87804	2.168000	0.68352	0.533000	0.62120	TAT		0.338	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235840882	T	C	235840882	3	2	193	1	0	0	0	0	1	0	0	0	9128	1406	49	4	587	4	LYST	1	235840882	Missense_Mutation	SNP	T	TCGA-23-2072-01A-01W-0722-08	20055676	235840882	13409739	4	11143											
APOB	338	broad.mit.edu	37	2	21235485	21235485	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr2:21235485T>C	ENST00000233242.1	-	26	4382	c.4255A>G	c.(4255-4257)Aca>Gca	p.T1419A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1419					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T1419A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGATAGTGTGAACGTATTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	2											75	79	78					2																	21235485		2199	4300	6499	21088990	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4255A>G	2.37:g.21235485T>C	ENSP00000233242:p.Thr1419Ala		21088990	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434964	0.25813	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00737	5.76	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000004	T	0.02807	0.0084	M	0.70595	2.14	0.80722	D	1	D	0.60575	0.988	P	0.54759	0.76	T	0.54781	-0.8242	10	0.54805	T	0.06	.	14.398	0.67025	0.0:0.0:0.0:1.0	.	1419	P04114	APOB_HUMAN	A	1419	ENSP00000233242:T1419A	ENSP00000233242:T1419A	T	-	1	0	APOB	21088990	0.949000	0.32298	0.521000	0.27850	0.075000	0.17131	2.141000	0.42168	2.129000	0.65627	0.533000	0.62120	ACA		0.343	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21235485	T	C	21235485	3	2	193	1	0	0	0	0	1	0	0	0	785	1696	59	4	9452	4	APOB	2	21235485	Missense_Mutation	SNP	T	TCGA-23-2072-01A-01W-0722-08		21235485	221963888	5	11144											
HADHA	3030	broad.mit.edu	37	2	26424110	26424110	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr2:26424110C>G	ENST00000380649.3	-	13	1429	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	434					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.D434H(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGGTAATCAAGCTGCCCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											99	91	94					2																	26424110		2203	4300	6503	26277614	SO:0001583	missense	3030			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1300G>C	2.37:g.26424110C>G	ENSP00000370023:p.Asp434His		26277614	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102746	0.76983	.	.	ENSG00000084754	ENST00000380649	T	0.80393	-1.37	5.43	4.56	0.56223	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.042848	0.85682	D	0.000000	D	0.88489	0.6450	M	0.77486	2.375	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	D	0.89621	0.3848	10	0.87932	D	0	.	12.9488	0.58388	0.0:0.9214:0.0:0.0786	.	434;434	E9KL44;P40939	.;ECHA_HUMAN	H	434	ENSP00000370023:D434H	ENSP00000370023:D434H	D	-	1	0	HADHA	26277614	1.000000	0.71417	0.847000	0.33407	0.963000	0.63663	6.031000	0.70911	1.305000	0.44909	-0.140000	0.14226	GAT		0.408	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		G	26424110	C	G	26424110	3	3	193	1	0	0	0	0	1	0	0	0	6943	826	29	3	1023	3	HADHA	2	26424110	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	5188625	26424110	216775263	6	11145											
SLC5A6	8884	broad.mit.edu	37	2	27423930	27423930	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr2:27423930G>A	ENST00000310574.3	-	16	2173	c.1700C>T	c.(1699-1701)cCa>cTa	p.P567L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.P567L|SLC5A6_ENST00000461319.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	567					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.P567L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CAGGAGCTTTGGCAACACTGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	2											116	111	112					2																	27423930		2203	4300	6503	27277434	SO:0001583	missense	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1700C>T	2.37:g.27423930G>A	ENSP00000310208:p.Pro567Leu		27277434	B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422221	0.25639	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.85088	-1.94;-1.94	5.73	5.73	0.89815	.	0.381500	0.29307	N	0.012521	D	0.82287	0.5004	L	0.54323	1.7	0.40652	D	0.982042	B	0.16603	0.018	B	0.15484	0.013	T	0.77199	-0.2675	10	0.32370	T	0.25	.	15.4002	0.74834	0.0:0.0:1.0:0.0	.	567	Q9Y289	SC5A6_HUMAN	L	567	ENSP00000310208:P567L;ENSP00000384853:P567L	ENSP00000310208:P567L	P	-	2	0	SLC5A6	27277434	0.467000	0.25831	0.170000	0.22879	0.002000	0.02628	2.924000	0.48876	2.698000	0.92095	0.650000	0.86243	CCA		0.582	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		A	27423930	G	A	27423930	3	1	193	1	0	0	0	0	1	0	0	0	14672	1348	47	2	215	2	SLC5A6	2	27423930	Missense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08	999820	27423930	215775443	7	11146											
LRP2	4036	broad.mit.edu	37	2	170068633	170068633	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr2:170068633G>C	ENST00000263816.3	-	37	6410	c.6125C>G	c.(6124-6126)tCc>tGc	p.S2042C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2042	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S2042C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACAGGCGCAGGAAAACAATCC	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											106	115	112					2																	170068633		2203	4300	6503	169776879	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6125C>G	2.37:g.170068633G>C	ENSP00000263816:p.Ser2042Cys		169776879	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707157	0.68615	.	.	ENSG00000081479	ENST00000263816	D	0.96651	-4.08	5.88	5.88	0.94601	Epidermal growth factor-like (1);	0.103397	0.64402	D	0.000002	D	0.98454	0.9485	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	P	0.62491	0.903	D	0.98139	1.0435	10	0.42905	T	0.14	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	2042	P98164	LRP2_HUMAN	C	2042	ENSP00000263816:S2042C	ENSP00000263816:S2042C	S	-	2	0	LRP2	169776879	1.000000	0.71417	0.996000	0.52242	0.561000	0.35649	6.074000	0.71253	2.780000	0.95670	0.655000	0.94253	TCC		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170068633	G	C	170068633	3	2	193	1	0	0	0	0	1	0	0	0	8956	1174	41	3	8014	3	LRP2	2	170068633	Missense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08	142644703	170068633	73130740	8	11147											
ZBTB20	26137	broad.mit.edu	37	3	114070129	114070129	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr3:114070129C>T	ENST00000474710.1	-	4	974	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V193M|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V193M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V193M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.V193M|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.V193M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V193M	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	266				V -> M (in Ref. 1; AAG28340). {ECO:0000305}.		nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.V193M(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGGCTGACCACTGCGCCGCTG	0.637																																					NSCLC(69;748 1344 9802 11203 30933)											1	Substitution - Missense(1)	ovary(1)	3											47	47	47					3																	114070129		2203	4299	6502	115552819	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.796G>A	3.37:g.114070129C>T	ENSP00000419153:p.Val266Met		115552819	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	4.600	0.111457	0.08831	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10668	2.88;2.88;2.88;2.88;2.85;2.88;2.88	5.52	5.52	0.82312	.	0.279795	0.37304	N	0.002156	T	0.08891	0.0220	N	0.19112	0.55	0.42943	D	0.99435	B	0.15930	0.015	B	0.09377	0.004	T	0.14727	-1.0462	10	0.49607	T	0.09	.	15.1528	0.72713	0.0:0.8595:0.1405:0.0	.	266	Q9HC78	ZBT20_HUMAN	M	193;193;193;193;266;193;193	ENSP00000420324:V193M;ENSP00000377375:V193M;ENSP00000418092:V193M;ENSP00000419902:V193M;ENSP00000419153:V266M;ENSP00000349803:V193M;ENSP00000417307:V193M	ENSP00000349803:V193M	V	-	1	0	ZBTB20	115552819	0.932000	0.31603	0.972000	0.41901	0.974000	0.67602	1.717000	0.37991	2.878000	0.98634	0.650000	0.86243	GTG		0.637	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		T	114070129	C	T	114070129	3	4	193	1	0	0	0	0	1	0	0	0	17529	565	20	2	1437	2	ZBTB20	3	114070129	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08		114070129	83952301	9	11148											
OSBPL11	114885	broad.mit.edu	37	3	125298793	125298793	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr3:125298793C>A	ENST00000296220.5	-	3	614	c.325G>T	c.(325-327)Gca>Tca	p.A109S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	109	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.A109S(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ACAGCTCCTGCAAGCTGCAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	3											120	123	122					3																	125298793		2203	4300	6503	126781483	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.325G>T	3.37:g.125298793C>A	ENSP00000296220:p.Ala109Ser		126781483	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580725	0.65992	.	.	ENSG00000144909	ENST00000296220	T	0.73789	-0.78	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.113736	0.64402	D	0.000016	T	0.76528	0.4000	N	0.25789	0.76	0.80722	D	1	P	0.40230	0.708	P	0.59288	0.855	T	0.67995	-0.5526	10	0.09843	T	0.71	.	18.6341	0.91371	0.0:1.0:0.0:0.0	.	109	Q9BXB4	OSB11_HUMAN	S	109	ENSP00000296220:A109S	ENSP00000296220:A109S	A	-	1	0	OSBPL11	126781483	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.597000	0.82733	2.628000	0.89032	0.655000	0.94253	GCA		0.408	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		A	125298793	C	A	125298793	3	1	193	1	0	0	0	0	1	0	0	0	11276	710	25	3	1962	3	OSBPL11	3	125298793	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	11228664	125298793	72723637	10	11149											
PLXNA1	5361	broad.mit.edu	37	3	126735405	126735405	+	Silent	SNP	C	C	T			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr3:126735405C>T	ENST00000393409.2	+	15	3060	c.3060C>T	c.(3058-3060)agC>agT	p.S1020S	PLXNA1_ENST00000251772.4_Silent_p.S997S	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1020	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.S997S(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCGGGCAGAGCCCTGGCAGCG	0.637																																																1	Substitution - coding silent(1)	ovary(1)	3											91	96	95					3																	126735405		2203	4300	6503	128218095	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3060C>T	3.37:g.126735405C>T			128218095		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																				0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126735405	C	T	126735405	2	4	193	1	0	0	0	0	0	0	0	1	12119	738	26	2		2	PLXNA1	3	126735405	Silent	SNP	C	TCGA-23-2072-01A-01W-0722-08	1436612	126735405	71287025	11	11150											
RNF175	285533	broad.mit.edu	37	4	154636783	154636783	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr4:154636783C>T	ENST00000347063.4	-	7	1034	c.662G>A	c.(661-663)aGc>aAc	p.S221N	RNF175_ENST00000274068.4_Missense_Mutation_p.S93N	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	221						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S221N(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GTCCGATAAGCTCCTTGTAGG	0.478																																																1	Substitution - Missense(1)	ovary(1)	4											86	83	84					4																	154636783		2038	4205	6243	154856233	SO:0001583	missense	285533			BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"RING-type (C3HC4) zinc fingers"	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.662G>A	4.37:g.154636783C>T	ENSP00000340979:p.Ser221Asn		154856233	C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	CCDS47149.1	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738816	0.15642	.	.	ENSG00000145428	ENST00000347063;ENST00000274068	T;T	0.19532	2.14;2.14	4.35	3.5	0.40072	Zinc finger, RING/FYVE/PHD-type (1);	0.110678	0.64402	N	0.000019	T	0.07863	0.0197	N	0.02916	-0.46	0.25480	N	0.987749	B;B	0.26081	0.141;0.001	B;B	0.26517	0.07;0.003	T	0.25606	-1.0127	10	0.27785	T	0.31	-10.0123	6.6249	0.22824	0.0:0.7938:0.0:0.2062	.	93;221	Q8NB61;Q8N4F7	.;RN175_HUMAN	N	221;93	ENSP00000340979:S221N;ENSP00000274068:S93N	ENSP00000274068:S93N	S	-	2	0	RNF175	154856233	0.009000	0.17119	0.182000	0.23118	0.408000	0.30992	1.064000	0.30579	1.422000	0.47177	0.591000	0.81541	AGC		0.478	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		T	154636783	C	T	154636783	3	4	193	1	0	0	0	0	1	0	0	0	13466	797	28	2	336	2	RNF175	4	154636783	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08		154636783	36517493	12	11151											
IQGAP2	10788	broad.mit.edu	37	5	75970460	75970460	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr5:75970460C>G	ENST00000274364.6	+	27	3750	c.3453C>G	c.(3451-3453)aaC>aaG	p.N1151K	IQGAP2_ENST00000396234.3_Missense_Mutation_p.N647K|IQGAP2_ENST00000379730.3_Missense_Mutation_p.N653K|IQGAP2_ENST00000502745.1_Missense_Mutation_p.N647K	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1151					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.N1151K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGCCTCCAACAAGCTGTTTG	0.438																																																1	Substitution - Missense(1)	ovary(1)	5											94	90	91					5																	75970460		2203	4300	6503	76006216	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3453C>G	5.37:g.75970460C>G	ENSP00000274364:p.Asn1151Lys		76006216	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417376	0.42918	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.67	4.81	0.61882	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.042899	0.85682	D	0.000000	T	0.77177	0.4092	L	0.53561	1.675	0.80722	D	1	B;B;B	0.23442	0.053;0.053;0.085	B;B;B	0.17433	0.018;0.018;0.017	T	0.72494	-0.4276	10	0.37606	T	0.19	-29.2834	9.2097	0.37311	0.0:0.7814:0.0:0.2186	.	653;647;1151	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	K	1151;653;1101;647;647	ENSP00000274364:N1151K;ENSP00000442313:N653K;ENSP00000421097:N1101K;ENSP00000379535:N647K;ENSP00000426027:N647K	ENSP00000274364:N1151K	N	+	3	2	IQGAP2	76006216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.184000	0.42575	1.400000	0.46741	0.591000	0.81541	AAC		0.438	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		G	75970460	C	G	75970460	3	3	193	1	0	0	0	0	1	0	0	0	7815	477	17	3	3559	3	IQGAP2	5	75970460	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08		75970460	104944800	13	11152											
PPIP5K2	23262	broad.mit.edu	37	5	102519086	102519086	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr5:102519086G>A	ENST00000358359.3	+	25	3583	c.3074G>A	c.(3073-3075)aGt>aAt	p.S1025N	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.S1025N|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S1025N	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1025					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.S1025N(1)|p.S1025I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTCACATCCAGTATTTTTGGC	0.438																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	5											102	100	101					5																	102519086		2203	4300	6503	102546985	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3074G>A	5.37:g.102519086G>A	ENSP00000351126:p.Ser1025Asn		102546985	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	G	13.61	2.289351	0.40494	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15017	2.46;2.47;2.46	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.33644	0.0870	L	0.47716	1.5	0.49798	D	0.999823	D;D	0.57899	0.981;0.967	D;P	0.66351	0.943;0.878	T	0.01371	-1.1372	10	0.14656	T	0.56	-16.7021	19.661	0.95871	0.0:0.0:1.0:0.0	.	1025;1025	O43314-2;O43314	.;VIP2_HUMAN	N	1025;1025;1040;1025	ENSP00000313070:S1025N;ENSP00000351126:S1025N;ENSP00000416016:S1025N	ENSP00000313070:S1025N	S	+	2	0	PPIP5K2	102546985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.075000	0.71261	2.706000	0.92434	0.591000	0.81541	AGT		0.438	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		A	102519086	G	A	102519086	3	1	193	1	0	0	0	0	1	0	0	0	12336	1029	36	2	3168	2	PPIP5K2	5	102519086	Missense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08	26548626	102519086	78396174	14	11153											
SLIT3	6586	broad.mit.edu	37	5	168112727	168112727	+	Missense_Mutation	SNP	C	C	T	rs200822063		TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr5:168112727C>T	ENST00000519560.1	-	31	3939	c.3520G>A	c.(3520-3522)Gcc>Acc	p.A1174T	SLIT3_ENST00000404867.3_Missense_Mutation_p.A1174T|SLIT3_ENST00000332966.8_Missense_Mutation_p.A1181T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1174	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.A1174T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGACCTTGGCGGAGGCCAGT	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		18331	0		0	False		,,,				2504	0				Ovarian(29;311 847 10864 17279 24903)											1	Substitution - Missense(1)	ovary(1)	5											73	78	76					5																	168112727		2203	4300	6503	168045305	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3520G>A	5.37:g.168112727C>T	ENSP00000430333:p.Ala1174Thr		168045305	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.487	0.861180	0.17178	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.68765	-0.35;-0.35;-0.35	4.76	3.87	0.44632	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.200754	0.53938	D	0.000050	T	0.45074	0.1324	N	0.19112	0.55	0.41357	D	0.987401	B	0.15473	0.013	B	0.14023	0.01	T	0.33214	-0.9877	10	0.14656	T	0.56	.	7.8458	0.29424	0.1612:0.7564:0.0:0.0823	.	1174	O75094	SLIT3_HUMAN	T	1174;1181;1174	ENSP00000430333:A1174T;ENSP00000332164:A1181T;ENSP00000384890:A1174T	ENSP00000332164:A1181T	A	-	1	0	SLIT3	168045305	1.000000	0.71417	0.984000	0.44739	0.925000	0.55904	3.095000	0.50235	2.349000	0.79799	0.561000	0.74099	GCC		0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168112727	C	T	168112727	3	4	193	1	0	0	0	0	1	0	0	0	14744	768	27	1	1075	1	SLIT3	5	168112727	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	65593641	168112727	12802533	15	11154											
SLIT3	6586	broad.mit.edu	37	5	168678454	168678454	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr5:168678454G>T	ENST00000519560.1	-	2	626	c.207C>A	c.(205-207)gaC>gaA	p.D69E	SLIT3_ENST00000404867.3_Missense_Mutation_p.D69E|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Missense_Mutation_p.D69E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	69					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.D69E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTATTTCTGTCCAGGTCAC	0.433																																					Ovarian(29;311 847 10864 17279 24903)											1	Substitution - Missense(1)	ovary(1)	5											155	144	148					5																	168678454		2203	4300	6503	168611032	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.207C>A	5.37:g.168678454G>T	ENSP00000430333:p.Asp69Glu		168611032	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344651	0.41498	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.23754	1.89;1.89;1.89	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000003	T	0.33527	0.0866	N	0.17901	0.54	0.35953	D	0.834037	D;B	0.61697	0.99;0.086	D;B	0.70935	0.971;0.133	T	0.35500	-0.9786	10	0.35671	T	0.21	.	13.7144	0.62687	0.0:0.0:1.0:0.0	.	69;69	O75094-2;O75094	.;SLIT3_HUMAN	E	69	ENSP00000430333:D69E;ENSP00000332164:D69E;ENSP00000384890:D69E	ENSP00000332164:D69E	D	-	3	2	SLIT3	168611032	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.268000	0.43338	2.298000	0.77334	0.655000	0.94253	GAC		0.433	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168678454	G	T	168678454	3	4	193	1	0	0	0	0	1	0	0	0	14744	1368	48	3	4504	3	SLIT3	5	168678454	Missense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08	565727	168678454	12236806	16	11155											
BMP6	654	broad.mit.edu	37	6	7845412	7845412	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr6:7845412A>G	ENST00000283147.6	+	2	863	c.704A>G	c.(703-705)cAc>cGc	p.H235R		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	235					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.H235R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAGCGACACCACAAAGAGTTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											134	132	133					6																	7845412		2203	4300	6503	7790411	SO:0001583	missense	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.704A>G	6.37:g.7845412A>G	ENSP00000283147:p.His235Arg		7790411	Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.525973	0.44969	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.61859	0.07	5.41	5.41	0.78517	Transforming growth factor-beta, N-terminal (1);	0.048468	0.85682	D	0.000000	T	0.37237	0.0996	L	0.44542	1.39	0.80722	D	1	B	0.23442	0.085	B	0.29440	0.102	T	0.28808	-1.0032	10	0.25106	T	0.35	.	15.4422	0.75195	1.0:0.0:0.0:0.0	.	235	P22004	BMP6_HUMAN	R	157;235;198	ENSP00000283147:H235R	ENSP00000283147:H235R	H	+	2	0	BMP6	7790411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.735000	0.91549	2.044000	0.60594	0.455000	0.32223	CAC		0.458	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		G	7845412	A	G	7845412	3	3	193	1	0	0	0	0	1	0	0	0	1464	159	6	4	710	4	BMP6	6	7845412	Missense_Mutation	SNP	A	TCGA-23-2072-01A-01W-0722-08		7845412	163269655	17	11156											
RNF8	9025	broad.mit.edu	37	6	37358531	37358531	+	Silent	SNP	C	C	T			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr6:37358531C>T	ENST00000373479.4	+	8	1648	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	RNF8_ENST00000469731.1_Missense_Mutation_p.S417F	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	485					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F485F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGAGATTGTTCTGAAGACCGT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	6											114	111	112					6																	37358531		2203	4300	6503	37466509	SO:0001819	synonymous_variant	9025			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1455C>T	6.37:g.37358531C>T			37466509	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461741	0.26248	.	.	ENSG00000112130	ENST00000469731	T	0.55234	0.53	5.02	0.676	0.17958	.	.	.	.	.	T	0.26666	0.0652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14699	-1.0463	5	.	.	.	.	2.9089	0.05730	0.409:0.3646:0.1347:0.0917	.	.	.	.	F	417	ENSP00000418879:S417F	.	S	+	2	0	RNF8	37466509	0.000000	0.05858	0.870000	0.34147	0.540000	0.34992	-1.118000	0.03280	-0.012000	0.14223	0.655000	0.94253	TCT		0.507	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			T	37358531	C	T	37358531	2	4	193	1	0	0	0	0	0	0	0	1	13503	913	32	2		2	RNF8	6	37358531	Silent	SNP	C	TCGA-23-2072-01A-01W-0722-08	29513119	37358531	133756536	18	11157											
RBAK	57786	broad.mit.edu	37	7	5103357	5103357	+	Silent	SNP	A	A	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr7:5103357A>G	ENST00000353796.3	+	6	594	c.270A>G	c.(268-270)agA>agG	p.R90R	RBAK_ENST00000396912.1_Silent_p.R90R|RBAK-RBAKDN_ENST00000407184.1_Silent_p.R90R|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	90					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R90R(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGATAGAGAGAATCCAAGAAA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	7											58	55	56					7																	5103357		2203	4300	6503	5069883	SO:0001819	synonymous_variant	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.270A>G	7.37:g.5103357A>G			5069883	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	CCDS5337.1																																																																																				0.358	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		G	5103357	A	G	5103357	2	3	193	1	0	0	0	0	0	0	0	1	13103	243	9	4		4	RBAK	7	5103357	Silent	SNP	A	TCGA-23-2072-01A-01W-0722-08		5103357	154035306	19	11158											
GPR141	353345	broad.mit.edu	37	7	37780440	37780440	+	Missense_Mutation	SNP	C	C	T	rs545002848	byFrequency	TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr7:37780440C>T	ENST00000447769.1	+	4	734	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.P149S			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P149S(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATTGTGGTACCCCTGGTTGT	0.438													C|||	2	0.000399361	0	0	5008	,	,		20490	0		0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	7											151	146	147					7																	37780440		2203	4300	6503	37746965	SO:0001583	missense	353345			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.445C>T	7.37:g.37780440C>T	ENSP00000390410:p.Pro149Ser		37746965	A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616473	0.46736	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.50001	0.76;0.76	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.143577	0.47852	D	0.000220	T	0.69566	0.3125	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73633	-0.3921	10	0.62326	D	0.03	-25.7606	16.6324	0.85037	0.0:1.0:0.0:0.0	.	149	Q7Z602	GP141_HUMAN	S	149	ENSP00000390410:P149S;ENSP00000334540:P149S	ENSP00000334540:P149S	P	+	1	0	GPR141	37746965	0.975000	0.34042	0.373000	0.26003	0.412000	0.31113	4.341000	0.59335	2.525000	0.85131	0.655000	0.94253	CCC		0.438	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		T	37780440	C	T	37780440	3	4	193	1	0	0	0	0	1	0	0	0	6649	507	18	2	447	2	GPR141	7	37780440	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	32677083	37780440	121358223	20	11159											
C7orf44	55744	broad.mit.edu	37	7	43684999	43684999	+	Splice_Site	SNP	C	C	G	rs200911102		TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr7:43684999C>G	ENST00000395879.1	-	3	1797		c.e3-1		COA1_ENST00000395880.3_Splice_Site|COA1_ENST00000310564.6_Splice_Site|COA1_ENST00000223336.6_Splice_Site			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)						mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)		p.?(1)									GAATGAAACTCTAAGGACGAA	0.433													C|||	1	0.000199681	0	0.0014	5008	,	,		16970	0		0	False		,,,				2504	0															1	Unknown(1)	ovary(1)	7											59	57	58					7																	43684999		2203	4300	6503	43651524	SO:0001630	splice_region_variant	55744			AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"Mitochondrial respiratory chain complex assembly factors"	21868	protein-coding gene	gene with protein product		614769	"chromosome 7 open reading frame 44"	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.116-1G>C	7.37:g.43684999C>G			43651524	A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	Splice_Site	SNP	ENST00000395879.1	37	CCDS5471.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.66	2.004787	0.35320	.	.	ENSG00000106603	ENST00000395879;ENST00000310564;ENST00000395880;ENST00000223336;ENST00000415798;ENST00000431651	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7061	0.62639	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C7orf44	43651524	0.859000	0.29813	0.814000	0.32528	0.026000	0.11368	0.949000	0.29109	2.501000	0.84356	0.650000	0.86243	.		0.433	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313664.1	NM_018224	Intron	G	43684999	C	G	43684999	5	3	193	1	0	0	0	0	0	0	1	0	2394	927	32	3	337	3	C7orf44	7	43684999	Splice_Site	SNP	C	TCGA-23-2072-01A-01W-0722-08	5904559	43684999	115453664	21	11160											
GIMAP1	170575	broad.mit.edu	37	7	150417157	150417157	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr7:150417157C>A	ENST00000307194.5	+	3	205	c.65C>A	c.(64-66)tCc>tAc	p.S22Y		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	22					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.S22Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AACGCTCAGTCCCGGCAGGAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											137	160	152					7																	150417157		2167	4229	6396	150048090	SO:0001583	missense	170575			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.65C>A	7.37:g.150417157C>A	ENSP00000302833:p.Ser22Tyr		150048090	B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	C	2.499	-0.315639	0.05422	.	.	ENSG00000213203	ENST00000307194	T	0.05580	3.42	4.57	0.596	0.17496	.	1.573830	0.05104	U	0.487712	T	0.04907	0.0132	N	0.14661	0.345	0.09310	N	1	B	0.24092	0.097	B	0.26517	0.07	T	0.44697	-0.9311	10	0.40728	T	0.16	.	7.0074	0.24844	0.0:0.5961:0.0:0.4039	.	22	Q8WWP7	GIMA1_HUMAN	Y	22	ENSP00000302833:S22Y	ENSP00000302833:S22Y	S	+	2	0	GIMAP1	150048090	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.003000	0.13083	0.194000	0.20326	0.650000	0.86243	TCC		0.527	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		A	150417157	C	A	150417157	3	1	193	1	0	0	0	0	1	0	0	0	6379	855	30	3	71	3	GIMAP1	7	150417157	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	106732158	150417157	8721506	22	11161											
DKK4	27121	broad.mit.edu	37	8	42231699	42231699	+	Silent	SNP	A	A	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr8:42231699A>G	ENST00000220812.2	-	4	780	c.594T>C	c.(592-594)ccT>ccC	p.P198P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	198	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.P198P(1)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACAGTAGTCCAGGGCCACAGT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	8											91	91	91					8																	42231699		2203	4300	6503	42350856	SO:0001819	synonymous_variant	27121			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"dickkopf (Xenopus laevis) homolog 4", "dickkopf homolog 4 (Xenopus laevis)"			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.594T>C	8.37:g.42231699A>G			42350856	Q3KNX0|Q9Y4C3	Silent	SNP	ENST00000220812.2	37	CCDS6130.1																																																																																				0.448	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1			G	42231699	A	G	42231699	2	3	193	1	0	0	0	0	0	0	0	1	4547	175	7	4		4	DKK4	8	42231699	Silent	SNP	A	TCGA-23-2072-01A-01W-0722-08		42231699	104132323	23	11162											
TRPA1	8989	broad.mit.edu	37	8	72948576	72948576	+	Silent	SNP	A	A	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr8:72948576A>G	ENST00000262209.4	-	21	2709	c.2502T>C	c.(2500-2502)tgT>tgC	p.C834C	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	834					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.C834C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAATTGCTCCACATTGCCACT	0.353																																																1	Substitution - coding silent(1)	ovary(1)	8											66	66	66					8																	72948576		2203	4300	6503	73111130	SO:0001819	synonymous_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2502T>C	8.37:g.72948576A>G			73111130	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		G	72948576	A	G	72948576	2	3	193	1	0	0	0	0	0	0	0	1	16577	157	6	4		4	TRPA1	8	72948576	Silent	SNP	A	TCGA-23-2072-01A-01W-0722-08	30716877	72948576	73415446	24	11163											
KIAA1797	54914	broad.mit.edu	37	9	20923752	20923752	+	Silent	SNP	T	T	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr9:20923752T>A	ENST00000380249.1	+	27	3310	c.2946T>A	c.(2944-2946)tcT>tcA	p.S982S	FOCAD_ENST00000338382.6_Silent_p.S982S|FOCAD_ENST00000605086.1_Silent_p.S418S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	982						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.S982S(1)									CCTCAGACTCTGACGGGCTCC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	9											73	60	64					9																	20923752		2203	4300	6503	20913752	SO:0001819	synonymous_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2946T>A	9.37:g.20923752T>A			20913752	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	CCDS34993.1																																																																																				0.502	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		A	20923752	T	A	20923752	2	1	193	1	0	0	0	0	0	0	0	1	8258	1567	55	5		5	KIAA1797	9	20923752	Silent	SNP	T	TCGA-23-2072-01A-01W-0722-08		20923752	120289679	25	11164											
TSTD2	158427	broad.mit.edu	37	9	100364996	100364996	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr9:100364996G>C	ENST00000341170.4	-	10	1688	c.1306C>G	c.(1306-1308)Cag>Gag	p.Q436E		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	436								p.Q436E(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TGGCGGCACTGGGGAGTAGAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	9											105	98	100					9																	100364996		2203	4300	6503	99404817	SO:0001583	missense	158427			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1306C>G	9.37:g.100364996G>C	ENSP00000342499:p.Gln436Glu		99404817	A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323893	0.24080	.	.	ENSG00000136925	ENST00000375173;ENST00000375172;ENST00000341170	T;T	0.35605	1.3;1.3	5.63	4.73	0.59995	.	0.478865	0.24024	N	0.042242	T	0.24160	0.0585	N	0.25890	0.77	0.41728	D	0.989543	B	0.20887	0.049	B	0.16722	0.016	T	0.08432	-1.0722	10	0.02654	T	1	-2.9296	16.048	0.80734	0.0:0.0:0.8647:0.1353	.	436	Q5T7W7	TSTD2_HUMAN	E	32;210;436	ENSP00000364316:Q32E;ENSP00000342499:Q436E	ENSP00000342499:Q436E	Q	-	1	0	TSTD2	99404817	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	4.946000	0.63576	1.518000	0.48934	0.655000	0.94253	CAG		0.507	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		C	100364996	G	C	100364996	3	2	193	1	0	0	0	0	1	0	0	0	16675	1357	47	3	248	3	TSTD2	9	100364996	Missense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08	79441244	100364996	40848435	26	11165											
ALG2	85365	broad.mit.edu	37	9	101980977	101980977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr9:101980977C>A	ENST00000476832.1	-	2	551	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	ALG2_ENST00000319033.6_Nonsense_Mutation_p.E71*	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.E164*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GTGGTGTATTCCTCTATCCAG	0.443																																																1	Substitution - Nonsense(1)	ovary(1)	9											92	92	92					9																	101980977		2203	4300	6503	101020798	SO:0001587	stop_gained	85365			AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"Glycosyltransferase group 1 domain containing"	23159	protein-coding gene	gene with protein product		607905	"asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.490G>T	9.37:g.101980977C>A	ENSP00000417764:p.Glu164*		101020798	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Nonsense_Mutation	SNP	ENST00000476832.1	37	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538588	0.96474	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-8.2339	19.0186	0.92903	0.0:1.0:0.0:0.0	.	.	.	.	X	164;71	.	ENSP00000432675:E71X	E	-	1	0	ALG2	101020798	1.000000	0.71417	0.958000	0.39756	0.927000	0.56198	7.445000	0.80570	2.565000	0.86533	0.650000	0.86243	GAA		0.443	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		A	101980977	C	A	101980977	4	1	193	1	0	0	0	0	0	1	0	0	519	864	30	3	764	3	ALG2	9	101980977	Nonsense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	1615981	101980977	39232454	27	11166											
LARP4B	23185	broad.mit.edu	37	10	871158	871158	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr10:871158C>T	ENST00000316157.3	-	12	1371	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	444					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.R444Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ATTAATTAATCGATCTGCAGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											149	159	155					10																	871158		2203	4300	6503	861158	SO:0001583	missense	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1331G>A	10.37:g.871158C>T	ENSP00000326128:p.Arg444Gln		861158	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818557	0.71028	.	.	ENSG00000107929	ENST00000316157	T	0.34667	1.35	5.57	4.67	0.58626	.	0.114761	0.64402	D	0.000012	T	0.25975	0.0633	N	0.14661	0.345	0.58432	D	0.999998	D	0.64830	0.994	B	0.43916	0.436	T	0.04961	-1.0915	10	0.44086	T	0.13	-14.6697	14.4915	0.67654	0.0:0.9296:0.0:0.0704	.	444	Q92615	LAR4B_HUMAN	Q	444	ENSP00000326128:R444Q	ENSP00000326128:R444Q	R	-	2	0	LARP4B	861158	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	4.781000	0.62389	1.379000	0.46325	0.655000	0.94253	CGA		0.458	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		T	871158	C	T	871158	3	4	193	1	0	0	0	0	1	0	0	0	8631	884	31	1	909	1	LARP4B	10	871158	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08		871158	134663589	28	11167											
HELLS	3070	broad.mit.edu	37	10	96341236	96341236	+	Silent	SNP	T	T	C			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr10:96341236T>C	ENST00000348459.5	+	11	1291	c.1186T>C	c.(1186-1188)Ttg>Ctg	p.L396L	HELLS_ENST00000394045.1_Intron|HELLS_ENST00000371332.4_Silent_p.L396L|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific									p.L396L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ACTTTGGTCATTGCTAAACTT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	10											94	89	91					10																	96341236		2203	4300	6503	96331226	SO:0001819	synonymous_variant	3070			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1186T>C	10.37:g.96341236T>C			96331226		Silent	SNP	ENST00000348459.5	37	CCDS7434.1																																																																																				0.348	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		C	96341236	T	C	96341236	2	2	193	1	0	0	0	0	0	0	0	1	7046	1490	52	4		4	HELLS	10	96341236	Silent	SNP	T	TCGA-23-2072-01A-01W-0722-08	95470078	96341236	39193511	29	11168											
PPFIBP2	8495	broad.mit.edu	37	11	7670885	7670885	+	Splice_Site	SNP	G	G	C			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr11:7670885G>C	ENST00000299492.4	+	21	2509	c.2121G>C	c.(2119-2121)gaG>gaC	p.E707D	PPFIBP2_ENST00000533792.1_Splice_Site_p.E549D|PPFIBP2_ENST00000530181.1_Splice_Site_p.E564D|PPFIBP2_ENST00000528883.1_Splice_Site_p.E595D|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	707					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.E707D(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGCTGATGAGGTGAGACCAC	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											199	208	205					11																	7670885		2201	4296	6497	7627461	SO:0001630	splice_region_variant	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2121+1G>C	11.37:g.7670885G>C			7627461	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211383	0.95069	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.3	5.3	0.74995	Sterile alpha motif/pointed domain (2);	0.000000	0.64402	D	0.000001	T	0.63367	0.2505	L	0.38838	1.175	0.80722	D	1	D;B;D;P;P;D	0.64830	0.99;0.027;0.994;0.903;0.942;0.99	D;B;D;P;P;D	0.70016	0.947;0.023;0.967;0.851;0.761;0.928	T	0.61802	-0.6988	10	0.44086	T	0.13	-23.2599	16.8132	0.85726	0.0:0.0:1.0:0.0	.	595;595;630;549;564;707	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	D	707;48;549;630;595;564	ENSP00000299492:E707D;ENSP00000436498:E549D;ENSP00000435469:E595D;ENSP00000437321:E564D	ENSP00000299492:E707D	E	+	3	2	PPFIBP2	7627461	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.813000	0.99286	2.629000	0.89072	0.563000	0.77884	GAG		0.498	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621	Missense_Mutation	C	7670885	G	C	7670885	5	2	193	1	0	0	0	0	0	0	1	0	12314	1014	35	3	2199	3	PPFIBP2	11	7670885	Splice_Site	SNP	G	TCGA-23-2072-01A-01W-0722-08		7670885	127335631	30	11169											
OR5F1	338674	broad.mit.edu	37	11	55761891	55761891	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr11:55761891C>G	ENST00000278409.1	-	1	210	c.211G>C	c.(211-213)Gtt>Ctt	p.V71L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	71					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V71L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GAGTTACAAACGTCCACAAAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											62	58	59					11																	55761891		2201	4296	6497	55518467	SO:0001583	missense	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.211G>C	11.37:g.55761891C>G	ENSP00000278409:p.Val71Leu		55518467	Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.668372	0.00105	.	.	ENSG00000149133	ENST00000278409	T	0.77750	-1.12	3.02	-0.899	0.10547	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42988	0.1227	N	0.02368	-0.58	0.09310	N	1	B	0.25105	0.118	B	0.22152	0.038	T	0.43245	-0.9403	9	0.02654	T	1	.	4.543	0.12067	0.0:0.414:0.1687:0.4172	.	71	O95221	OR5F1_HUMAN	L	71	ENSP00000278409:V71L	ENSP00000278409:V71L	V	-	1	0	OR5F1	55518467	0.000000	0.05858	0.301000	0.25044	0.204000	0.24138	-2.119000	0.01324	-0.001000	0.14495	-0.734000	0.03567	GTT		0.438	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		G	55761891	C	G	55761891	3	3	193	1	0	0	0	0	1	0	0	0	11158	536	19	3	736	3	OR5F1	11	55761891	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	48091006	55761891	79244625	31	11170											
ANO2	57101	broad.mit.edu	37	12	5708776	5708776	+	Nonsense_Mutation	SNP	G	G	A	rs368566641		TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr12:5708776G>A	ENST00000356134.5	-	22	2181	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	ANO2_ENST00000546188.1_Nonsense_Mutation_p.R704*|ANO2_ENST00000327087.8_Nonsense_Mutation_p.R703*	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	708					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R704*(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCAGCTTTCGAAATAGTTTC	0.428																																																1	Substitution - Nonsense(1)	ovary(1)	12						G	stop/ARG	0,4014		0,0,2007	104	99	101		2107	5.9	1	12		101	1,8357		0,1,4178	no	stop-gained	ANO2	NM_020373.2		0,1,6185	AA,AG,GG		0.012,0.0,0.0081		703/999	5708776	1,12371	2007	4179	6186	5579037	SO:0001587	stop_gained	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2110C>T	12.37:g.5708776G>A	ENSP00000348453:p.Arg704*		5579037	C4N787|Q9H847	Nonsense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	G	40	8.262735	0.98732	0.0	1.2E-4	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	.	.	.	5.9	5.9	0.94986	.	0.067886	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6796	0.56914	0.0:0.0:0.8353:0.1647	.	.	.	.	X	703;704;704;708	.	ENSP00000314048:R703X	R	-	1	2	ANO2	5579037	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.158000	0.42329	2.793000	0.96121	0.563000	0.77884	CGA		0.428	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		A	5708776	G	A	5708776	4	1	193	1	0	0	0	0	0	1	0	0	697	1066	37	1	913	1	ANO2	12	5708776	Nonsense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08		5708776	128143119	32	11171											
ATF1	466	broad.mit.edu	37	12	51213428	51213428	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr12:51213428C>G	ENST00000262053.3	+	7	704	c.682C>G	c.(682-684)Cga>Gga	p.R228G	ATF1_ENST00000539132.1_Missense_Mutation_p.R93G	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	228	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R228G(1)	EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AGAAGCTGCTCGAGAATGTCG	0.328			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "																																		Dom	yes		12	12q13	466	activating transcription factor 1		"E, M"	1	Substitution - Missense(1)	ovary(1)	12											43	47	46					12																	51213428		2203	4297	6500	49499695	SO:0001583	missense	466			BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"basic leucine zipper proteins"	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.682C>G	12.37:g.51213428C>G	ENSP00000262053:p.Arg228Gly		49499695	B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112516	0.56398	.	.	ENSG00000123268	ENST00000262053;ENST00000539132	T;T	0.61392	0.11;0.11	5.24	4.33	0.51752	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.82042	0.4951	H	0.95679	3.705	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.86975	0.2100	10	0.87932	D	0	0.9326	13.1532	0.59500	0.2904:0.7096:0.0:0.0	.	228	P18846	ATF1_HUMAN	G	228;93	ENSP00000262053:R228G;ENSP00000438403:R93G	ENSP00000262053:R228G	R	+	1	2	ATF1	49499695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.900000	0.48687	1.305000	0.44909	0.643000	0.83706	CGA		0.328	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		G	51213428	C	G	51213428	3	3	193	1	0	0	0	0	1	0	0	0	1079	876	31	3	704	3	ATF1	12	51213428	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	45504652	51213428	82638467	33	11172											
KRT78	196374	broad.mit.edu	37	12	53242380	53242380	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr12:53242380G>A	ENST00000304620.4	-	1	398	c.335C>T	c.(334-336)aCc>aTc	p.T112I	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	112	Coil 1A.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T112I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GATCTCCTGGGTCTCCTGCGT	0.567																																																1	Substitution - Missense(1)	ovary(1)	12											108	91	97					12																	53242380		2203	4300	6503	51528647	SO:0001583	missense	196374			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.335C>T	12.37:g.53242380G>A	ENSP00000306261:p.Thr112Ile		51528647	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856381	0.71834	.	.	ENSG00000170423	ENST00000304620	D	0.88741	-2.42	5.18	4.22	0.49857	Filament (1);	.	.	.	.	D	0.91994	0.7464	M	0.63428	1.95	0.30469	N	0.773525	D	0.76494	0.999	D	0.68483	0.958	D	0.87891	0.2684	9	0.87932	D	0	.	8.5513	0.33453	0.0:0.2627:0.5868:0.1505	.	112	Q8N1N4	K2C78_HUMAN	I	112	ENSP00000306261:T112I	ENSP00000306261:T112I	T	-	2	0	KRT78	51528647	0.997000	0.39634	0.994000	0.49952	0.985000	0.73830	1.405000	0.34635	2.575000	0.86900	0.491000	0.48974	ACC		0.567	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		A	53242380	G	A	53242380	3	1	193	1	0	0	0	0	1	0	0	0	8491	1261	44	2	1263	2	KRT78	12	53242380	Missense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08	2028952	53242380	80609515	34	11173											
ALX1	8092	broad.mit.edu	37	12	85680720	85680720	+	Nonsense_Mutation	SNP	T	T	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr12:85680720T>A	ENST00000316824.3	+	3	776	c.621T>A	c.(619-621)taT>taA	p.Y207*		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	207					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Y207*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTGCCACCTATGATATATCAG	0.368																																																1	Substitution - Nonsense(1)	ovary(1)	12											122	111	115					12																	85680720		2203	4300	6503	84204851	SO:0001587	stop_gained	8092			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.621T>A	12.37:g.85680720T>A	ENSP00000315417:p.Tyr207*		84204851	Q546C8|Q96FH4	Nonsense_Mutation	SNP	ENST00000316824.3	37	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	t	37	6.161046	0.97338	.	.	ENSG00000180318	ENST00000316824	.	.	.	5.78	2.21	0.28008	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4906	0.33098	0.0:0.2768:0.0:0.7232	.	.	.	.	X	207	.	ENSP00000315417:Y207X	Y	+	3	2	ALX1	84204851	0.994000	0.37717	0.999000	0.59377	0.992000	0.81027	0.331000	0.19733	0.139000	0.18822	-0.266000	0.10368	TAT		0.368	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		A	85680720	T	A	85680720	4	1	193	1	0	0	0	0	0	1	0	0	556	1471	51	5	631	5	ALX1	12	85680720	Nonsense_Mutation	SNP	T	TCGA-23-2072-01A-01W-0722-08	32438340	85680720	48171175	35	11174											
MYBPC1	4604	broad.mit.edu	37	12	102043146	102043146	+	Silent	SNP	T	T	C			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr12:102043146T>C	ENST00000550270.1	+	13	1230	c.1230T>C	c.(1228-1230)gcT>gcC	p.A410A	MYBPC1_ENST00000536007.1_Silent_p.A391A|MYBPC1_ENST00000441232.1_Silent_p.A410A|MYBPC1_ENST00000361685.2_Silent_p.A435A|MYBPC1_ENST00000547405.1_Silent_p.A384A|MYBPC1_ENST00000361466.2_Silent_p.A435A|MYBPC1_ENST00000553190.1_Silent_p.A410A|MYBPC1_ENST00000392934.3_Silent_p.A397A|MYBPC1_ENST00000547509.1_Silent_p.A396A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000452455.2_Silent_p.A410A|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000545503.2_Silent_p.A410A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Silent_p.A410A|MYBPC1_ENST00000541119.1_Silent_p.A398A|MYBPC1_ENST00000551300.1_Silent_p.A311A|MYBPC1_ENST00000549145.1_Silent_p.A423A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	410	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A435A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGGCTGATGCTGCAGAATATT	0.393																																																1	Substitution - coding silent(1)	ovary(1)	12											191	174	180					12																	102043146		2203	4300	6503	100567277	SO:0001819	synonymous_variant	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1230T>C	12.37:g.102043146T>C			100567277	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	CCDS9085.1																																																																																				0.393	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			C	102043146	T	C	102043146	2	2	193	1	0	0	0	0	0	0	0	1	10011	1567	55	4		4	MYBPC1	12	102043146	Silent	SNP	T	TCGA-23-2072-01A-01W-0722-08	16362426	102043146	31808749	36	11175											
CATSPERB	79820	broad.mit.edu	37	14	92102892	92102892	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr14:92102892G>C	ENST00000256343.3	-	17	1775	c.1619C>G	c.(1618-1620)gCc>gGc	p.A540G		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	540					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.A540G(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTGCTGTGGGGCAAGCGCAGT	0.383																																																1	Substitution - Missense(1)	ovary(1)	14											101	93	96					14																	92102892		2203	4300	6503	91172645	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1619C>G	14.37:g.92102892G>C	ENSP00000256343:p.Ala540Gly		91172645	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379271	0.42207	.	.	ENSG00000133962	ENST00000256343	T	0.54071	0.59	4.63	3.72	0.42706	.	0.116455	0.38548	N	0.001645	T	0.63815	0.2543	L	0.61218	1.895	0.24151	N	0.995697	D	0.89917	1.0	D	0.70935	0.971	T	0.53049	-0.8493	10	0.44086	T	0.13	-19.0323	7.7057	0.28648	0.1162:0.0:0.8838:0.0	.	540	Q9H7T0	CTSRB_HUMAN	G	540	ENSP00000256343:A540G	ENSP00000256343:A540G	A	-	2	0	CATSPERB	91172645	0.930000	0.31532	0.243000	0.24186	0.332000	0.28634	2.620000	0.46410	1.150000	0.42419	0.491000	0.48974	GCC		0.383	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		C	92102892	G	C	92102892	3	2	193	1	0	0	0	0	1	0	0	0	2691	1203	42	3	1775	3	CATSPERB	14	92102892	Missense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08		92102892	15246648	37	11176											
SCAPER	49855	broad.mit.edu	37	15	77096971	77096971	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr15:77096971C>T	ENST00000563290.1	-	6	492	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	SCAPER_ENST00000538941.2_De_novo_Start_InFrame|SCAPER_ENST00000324767.7_Missense_Mutation_p.V133M			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	133						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V133M(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATCATTAGCACCTCCTAAAAG	0.318																																																1	Substitution - Missense(1)	ovary(1)	15											77	67	70					15																	77096971		1815	4063	5878	74884026	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.397G>A	15.37:g.77096971C>T	ENSP00000454973:p.Val133Met		74884026	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482083	0.84747	.	.	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.28666	1.6	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	L	0.58428	1.81	0.58432	D	0.999999	D;D	0.60160	0.974;0.987	P;D	0.65684	0.876;0.937	T	0.53767	-0.8392	10	0.72032	D	0.01	.	19.2746	0.94026	0.0:1.0:0.0:0.0	.	133;148	Q6NSF1;Q9BY12-2	.;.	M	133;149	ENSP00000326924:V133M	ENSP00000303560:V149M	V	-	1	0	SCAPER	74884026	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.415000	0.80131	2.541000	0.85698	0.650000	0.86243	GTG		0.318	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		T	77096971	C	T	77096971	3	4	193	1	0	0	0	0	1	0	0	0	13881	507	18	2	3951	2	SCAPER	15	77096971	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08		77096971	25434421	38	11177											
FAM65A	79567	broad.mit.edu	37	16	67575618	67575618	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr16:67575618C>G	ENST00000379312.3	+	12	1146	c.1025C>G	c.(1024-1026)aCc>aGc	p.T342S	FAM65A_ENST00000540839.3_Missense_Mutation_p.T358S|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.T352S|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.T338S|FAM65A_ENST00000422602.2_Missense_Mutation_p.T358S	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	342						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.T338S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCCACAGTCACCAAGCGCTTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	16											107	103	104					16																	67575618		2198	4300	6498	66133119	SO:0001583	missense	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1025C>G	16.37:g.67575618C>G	ENSP00000368614:p.Thr342Ser		66133119	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.93|10.93	1.490681|1.490681	0.26686|0.26686	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.01685	.|4.69;4.69;4.69	4.8|4.8	3.82|3.82	0.43975|0.43975	.|.	.|0.217050	.|0.50627	.|D	.|0.000112	T|T	0.00496|0.00496	0.0016|0.0016	N|N	0.00260|0.00260	-1.75|-1.75	0.27504|0.27504	N|N	0.951901|0.951901	.|B;B;B;B	.|0.23128	.|0.01;0.01;0.01;0.08	.|B;B;B;B	.|0.18871	.|0.004;0.007;0.004;0.023	T|T	0.46205|0.46205	-0.9208|-0.9208	5|10	.|0.06494	.|T	.|0.89	-20.8064|-20.8064	6.3094|6.3094	0.21156|0.21156	0.3355:0.466:0.1985:0.0|0.3355:0.466:0.1985:0.0	.|.	.|352;358;342;358	.|B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.|.;.;FA65A_HUMAN;.	Q|S	332|342;338;358;352	.|ENSP00000368614:T342S;ENSP00000042381:T338S;ENSP00000400099:T358S	.|ENSP00000042381:T338S	H|T	+|+	3|2	2|0	FAM65A|FAM65A	66133119|66133119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	1.731000|1.731000	0.38135|0.38135	2.212000|2.212000	0.71576|0.71576	0.561000|0.561000	0.74099|0.74099	CAC|ACC		0.592	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		G	67575618	C	G	67575618	3	3	193	1	0	0	0	0	1	0	0	0	5599	507	18	3	1055	3	FAM65A	16	67575618	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08		67575618	22779135	39	11178											
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr17:7576852C>T	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site	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						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.?(24)|p.0?(8)|p.I332fs*49(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)	AGACTTAGTACCTGAAGGGTG	0.458		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"	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	17	GRCh37	CD002536	TP53	D	rs11575997						115	108	111					17																	7576852		2203	4300	6503	7517577	SO:0001630	splice_region_variant	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.993+1G>A	17.37:g.7576852C>T			7517577	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361474	0.41801	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7576852	C	T	7576852	5	4	193	1	0	0	0	0	0	0	1	0	16381	521	18	2	288	2	TP53	17	7576852	Splice_Site	SNP	C	TCGA-23-2072-01A-01W-0722-08		7576852	73618358	40	11179											
ENOSF1	55556	broad.mit.edu	37	18	688606	688606	+	Silent	SNP	G	G	C			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr18:688606G>C	ENST00000251101.7	-	9	709	c.621C>G	c.(619-621)ctC>ctG	p.L207L	ENOSF1_ENST00000340116.7_Silent_p.L228L|ENOSF1_ENST00000383578.3_Silent_p.L125L|ENOSF1_ENST00000319815.6_5'Flank|ENOSF1_ENST00000583973.1_5'Flank|ENOSF1_ENST00000580982.1_Silent_p.L131L	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	207					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)	p.L207L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCTGGGCACAGAGCTGTGGGA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	18											99	78	85					18																	688606		2203	4300	6503	678606	SO:0001819	synonymous_variant	55556			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.621C>G	18.37:g.688606G>C			678606	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Silent	SNP	ENST00000251101.7	37	CCDS11822.1																																																																																				0.547	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		C	688606	G	C	688606	2	2	193	1	0	0	0	0	0	0	0	1	5125	929	33	3		3	ENOSF1	18	688606	Silent	SNP	G	TCGA-23-2072-01A-01W-0722-08		688606	77388642	41	11180											
ZNF257	113835	broad.mit.edu	37	19	22271223	22271223	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr19:22271223C>T	ENST00000594947.1	+	4	815	c.671C>T	c.(670-672)aCt>aTt	p.T224I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T224I(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGACTCATACTGGAGAGAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	19											38	42	41					19																	22271223		2174	4286	6460	22063063	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.671C>T	19.37:g.22271223C>T	ENSP00000470209:p.Thr224Ile		22063063	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529028	0.44969	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-1.34	0.09143	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36799	0.0980	M	0.70842	2.15	0.29830	N	0.830079	P	0.42871	0.792	B	0.38428	0.273	T	0.33420	-0.9869	8	0.41790	T	0.15	.	7.5524	0.27804	0.0:0.7306:0.2694:0.0	.	224	Q9Y2Q1	ZN257_HUMAN	I	224;196	.	ENSP00000380312:T196I	T	+	2	0	ZNF257	22063063	0.028000	0.19301	0.053000	0.19242	0.709000	0.40893	1.613000	0.36900	-0.455000	0.07054	0.313000	0.20887	ACT		0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			T	22271223	C	T	22271223	3	4	193	1	0	0	0	0	1	0	0	0	17800	565	20	2	685	2	ZNF257	19	22271223	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08		22271223	36857760	42	11181											
KCNK6	9424	broad.mit.edu	37	19	38817898	38817898	+	Missense_Mutation	SNP	C	C	T	rs555738978		TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr19:38817898C>T	ENST00000263372.3	+	3	904	c.797C>T	c.(796-798)aCg>aTg	p.T266M		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	266					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.T266M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CACGGCCTCACGGAGCTCATC	0.657													C|||	1	0.000199681	0	0	5008	,	,		18376	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19											71	59	63					19																	38817898		2203	4300	6503	43509738	SO:0001583	missense	9424			AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.797C>T	19.37:g.38817898C>T	ENSP00000263372:p.Thr266Met		43509738	Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517649	0.64634	.	.	ENSG00000099337	ENST00000263372	T	0.23950	1.88	5.36	5.36	0.76844	.	0.214951	0.47093	D	0.000260	T	0.32224	0.0822	M	0.72118	2.19	0.51767	D	0.999932	P	0.52692	0.955	B	0.41988	0.372	T	0.15752	-1.0426	10	0.41790	T	0.15	.	16.5833	0.84720	0.0:1.0:0.0:0.0	.	266	Q9Y257	KCNK6_HUMAN	M	266	ENSP00000263372:T266M	ENSP00000263372:T266M	T	+	2	0	KCNK6	43509738	0.987000	0.35691	0.951000	0.38953	0.875000	0.50365	2.841000	0.48223	2.529000	0.85273	0.561000	0.74099	ACG		0.657	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		T	38817898	C	T	38817898	3	4	193	1	0	0	0	0	1	0	0	0	8070	536	19	1	807	1	KCNK6	19	38817898	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	16546675	38817898	20311085	43	11182											
KIR3DL2	3812	broad.mit.edu	37	19	55377869	55377869	+	Missense_Mutation	SNP	A	A	G	rs150305828		TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chr19:55377869A>G	ENST00000326321.3	+	8	1183	c.1150A>G	c.(1150-1152)Aat>Gat	p.N384D	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.N367D|RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.N384D	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	384					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.N384D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CAGAACAGTGAATAGGCAGGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											137	140	139					19																	55377869		2203	4300	6503	60069681	SO:0001583	missense	3812			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1150A>G	19.37:g.55377869A>G	ENSP00000325525:p.Asn384Asp		60069681	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	A	6.701	0.497962	0.12762	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00481	7.24;7.21;7.11	1.05	-0.0311	0.13911	.	.	.	.	.	T	0.00695	0.0023	L	0.51422	1.61	0.09310	N	1	P;P;D	0.69078	0.588;0.547;0.997	B;B;D	0.64237	0.146;0.155;0.923	T	0.53913	-0.8371	9	0.87932	D	0	.	2.9856	0.05966	0.7032:0.0:0.2968:0.0	.	367;384;384	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	D	384;384;367	ENSP00000384528:N384D;ENSP00000325525:N384D;ENSP00000270442:N367D	ENSP00000384528:N384D	N	+	1	0	KIR3DL1;KIR3DL2	60069681	0.031000	0.19500	0.000000	0.03702	0.005000	0.04900	0.863000	0.27913	-0.043000	0.13513	0.324000	0.21423	AAT		0.537	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			G	55377869	A	G	55377869	3	3	193	1	0	0	0	0	1	0	0	0	8321	246	9	4	1180	4	KIR3DL2	19	55377869	Missense_Mutation	SNP	A	TCGA-23-2072-01A-01W-0722-08	16559971	55377869	3751114	44	11183											
GRIPAP1	56850	broad.mit.edu	37	X	48855894	48855894	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chrX:48855894G>T	ENST00000376441.1	-	2	99	c.65C>A	c.(64-66)aCa>aAa	p.T22K	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.T22K|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.T22K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.T22K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	22						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.T22K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GTAGTTGTTTGTCCGGAGTTC	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											118	94	102					X																	48855894		2203	4300	6503	48740838	SO:0001583	missense	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.65C>A	X.37:g.48855894G>T	ENSP00000365624:p.Thr22Lys		48740838	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.784227	0.90282	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.52364	1.645	0.42717	D	0.993665	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.932	T	0.30966	-0.9960	10	0.02654	T	1	-7.7684	14.4662	0.67485	0.0:0.0:1.0:0.0	.	22;22	Q4V328-2;Q4V328	.;GRAP1_HUMAN	K	22	ENSP00000365608:T22K;ENSP00000365627:T22K;ENSP00000365624:T22K;ENSP00000365606:T22K	ENSP00000365606:T22K	T	-	2	0	GRIPAP1	48740838	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.770000	0.85390	2.390000	0.81377	0.521000	0.50471	ACA		0.552	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		T	48855894	G	T	48855894	3	4	193	1	0	0	0	0	1	0	0	0	6789	1377	48	3	2614	3	GRIPAP1	23	48855894	Missense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08		48855894	106414666	45	11184											
DACH2	117154	broad.mit.edu	37	X	85994760	85994760	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chrX:85994760C>A	ENST00000373125.4	+	7	1115	c.1115C>A	c.(1114-1116)cCa>cAa	p.P372Q	DACH2_ENST00000510272.1_Missense_Mutation_p.P153Q|DACH2_ENST00000373131.1_Missense_Mutation_p.P359Q|DACH2_ENST00000508860.1_Missense_Mutation_p.P205Q	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	372					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P372Q(1)|p.P359Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAGCGGATCCCAGAGAGTCCT	0.488																																																2	Substitution - Missense(2)	ovary(2)	X											98	80	86					X																	85994760		2195	4286	6481	85881416	SO:0001583	missense	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1115C>A	X.37:g.85994760C>A	ENSP00000362217:p.Pro372Gln		85881416	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410284	0.25465	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82893	-1.66;-1.66	4.98	4.02	0.46733	.	0.176719	0.39083	N	0.001474	T	0.60932	0.2307	N	0.03324	-0.35	0.30044	N	0.812371	B;B;B;B	0.23316	0.013;0.013;0.079;0.083	B;B;B;B	0.24848	0.007;0.007;0.056;0.045	T	0.55003	-0.8208	10	0.13108	T	0.6	.	9.5704	0.39425	0.53:0.47:0.0:0.0	.	238;372;359;372	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	Q	372;359;372;205;153;205;27	ENSP00000362223:P359Q;ENSP00000362217:P372Q	ENSP00000345134:P372Q	P	+	2	0	DACH2	85881416	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	2.039000	0.41193	2.056000	0.61249	0.506000	0.49869	CCA		0.488	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		A	85994760	C	A	85994760	3	1	193	1	0	0	0	0	1	0	0	0	4221	594	21	3	1141	3	DACH2	23	85994760	Missense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	37138866	85994760	69275800	46	11185											
WDR44	54521	broad.mit.edu	37	X	117527021	117527021	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chrX:117527021G>A	ENST00000254029.3	+	4	1008	c.613G>A	c.(613-615)Gct>Act	p.A205T	WDR44_ENST00000371822.5_Missense_Mutation_p.A180T|WDR44_ENST00000371825.3_Missense_Mutation_p.A205T|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	205						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.A205T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGATTTTGCCGCTGTGGAAGA	0.493																																																2	Substitution - Missense(2)	ovary(2)	X											143	124	131					X																	117527021		2203	4300	6503	117411049	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.613G>A	X.37:g.117527021G>A	ENSP00000254029:p.Ala205Thr		117411049	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.075|0.075	-1.194118|-1.194118	0.01594|0.01594	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.73047|.	-0.71;-0.12;0.01|.	5.17|5.17	2.41|2.41	0.29592|0.29592	.|.	0.818750|.	0.11442|.	N|.	0.563695|.	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.12182|0.12182	0.205|0.205	0.19775|0.19775	N|N	0.999953|0.999953	B;B;B|.	0.06786|.	0.001;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.0;0.0|.	T|T	0.25152|0.25152	-1.0140|-1.0140	10|5	0.16896|.	T|.	0.51|.	-2.4172|-2.4172	4.2889|4.2889	0.10869|0.10869	0.3396:0.0:0.5056:0.1548|0.3396:0.0:0.5056:0.1548	.|.	180;205;205|.	F8W913;Q5JSH3-2;Q5JSH3|.	.;.;WDR44_HUMAN|.	T|H	180;205;205|104	ENSP00000360887:A180T;ENSP00000254029:A205T;ENSP00000360890:A205T|.	ENSP00000254029:A205T|.	A|R	+|+	1|2	0|0	WDR44|WDR44	117411049|117411049	0.901000|0.901000	0.30685|0.30685	0.108000|0.108000	0.21378|0.21378	0.125000|0.125000	0.20455|0.20455	0.149000|0.149000	0.16243|0.16243	0.177000|0.177000	0.19895|0.19895	-0.190000|-0.190000	0.12839|0.12839	GCT|CGC		0.493	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		A	117527021	G	A	117527021	3	1	193	1	0	0	0	0	1	0	0	0	17296	1087	38	1	627	1	WDR44	23	117527021	Missense_Mutation	SNP	G	TCGA-23-2072-01A-01W-0722-08	31532261	117527021	37743539	47	11186											
ATP6AP1	537	broad.mit.edu	37	X	153663713	153663713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-2072-01A-01W-0722-08	TCGA-23-2072-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	bb4767d9-4639-4023-bbfc-88a5cdefd136	92612e6b-b2d1-41be-a6a4-26d73360406b	g.chrX:153663713C>A	ENST00000369762.2	+	9	1126	c.1065C>A	c.(1063-1065)taC>taA	p.Y355*	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	355					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.Y355*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGTCGCCTACTTCAATGCTT	0.602																																																1	Substitution - Nonsense(1)	ovary(1)	X											65	52	57					X																	153663713		2203	4300	6503	153316907	SO:0001587	stop_gained	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1065C>A	X.37:g.153663713C>A	ENSP00000358777:p.Tyr355*		153316907	A6ZKI4|Q8NBT4|Q9H0C7	Nonsense_Mutation	SNP	ENST00000369762.2	37	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519275	0.44866	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.69	2.97	0.34412	.	1.941890	0.01935	N	0.041465	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0649	8.5569	0.33487	0.0:0.736:0.0:0.264	.	.	.	.	X	355;269;179	.	ENSP00000358777:Y355X	Y	+	3	2	ATP6AP1	153316907	0.001000	0.12720	0.160000	0.22671	0.435000	0.31806	-0.154000	0.10130	0.200000	0.20447	-0.195000	0.12781	TAC		0.602	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		A	153663713	C	A	153663713	4	1	193	1	0	0	0	0	0	1	0	0	1165	576	20	3	1099	3	ATP6AP1	23	153663713	Nonsense_Mutation	SNP	C	TCGA-23-2072-01A-01W-0722-08	36136692	153663713	1606847	48	11187											
CSMD2	114784	broad.mit.edu	37	1	34128623	34128623	+	Silent	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr1:34128623C>T	ENST00000373380.1	-	5	961	c.741G>A	c.(739-741)gaG>gaA	p.E247E	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.E1374E			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1334	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1334E(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAACCCCGCTCTCCACAGGCC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	1											92	85	87					1																	34128623		2203	4300	6503	33901210	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.741G>A	1.37:g.34128623C>T			33901210	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37																																																																																					0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		T	34128623	C	T	34128623	2	4	194	1	0	0	0	0	0	0	0	1	3945	912	32	2		2	CSMD2	1	34128623	Silent	SNP	C	TCGA-23-2077-01A-01W-0722-08		34128623	215121998	1	11188											
COL9A2	1298	broad.mit.edu	37	1	40777384	40777384	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr1:40777384C>T	ENST00000372748.3	-	9	517	c.421G>A	c.(421-423)Gac>Aac	p.D141N		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	141	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D141N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGTCCAGGGTCCCCCTGGAAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											41	52	48					1																	40777384		2197	4294	6491	40549971	SO:0001583	missense	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.421G>A	1.37:g.40777384C>T	ENSP00000361834:p.Asp141Asn		40549971	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.14|18.14	3.557854|3.557854	0.65425|0.65425	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748;ENST00000372736|ENST00000417105	D;D|D	0.94184|0.97505	-3.37;-3.23|-4.41	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.267459|.	0.35466|.	N|.	0.003185|.	D|D	0.97451|0.97451	0.9166|0.9166	M|M	0.65320|0.65320	2|2	0.33007|0.33007	D|D	0.527019|0.527019	D|.	0.57257|.	0.979|.	P|.	0.57960|.	0.83|.	D|D	0.99961|0.99961	1.1726|1.1726	10|7	0.16896|0.87932	T|D	0.51|0	.|.	15.8313|15.8313	0.78752|0.78752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	141|.	Q14055|.	CO9A2_HUMAN|.	N|E	141;70|129	ENSP00000361834:D141N;ENSP00000361821:D70N|ENSP00000388493:G129E	ENSP00000361821:D70N|ENSP00000388493:G129E	D|G	-|-	1|2	0|0	COL9A2|COL9A2	40549971|40549971	0.960000|0.960000	0.32886|0.32886	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	2.687000|2.687000	0.46976|0.46976	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.622	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		T	40777384	C	T	40777384	3	4	194	1	0	0	0	0	1	0	0	0	3708	855	30	2	1744	2	COL9A2	1	40777384	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	6648761	40777384	208473237	2	11189											
C1orf141	400757	broad.mit.edu	37	1	67559074	67559074	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr1:67559074G>C	ENST00000371007.2	-	8	926	c.817C>G	c.(817-819)Cct>Gct	p.P273A	C1orf141_ENST00000371006.1_Missense_Mutation_p.P273A|C1orf141_ENST00000544837.1_Missense_Mutation_p.P273A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	273								p.P273A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGTACTGTAGGCATAGTTTTT	0.313																																																1	Substitution - Missense(1)	ovary(1)	1											84	85	85					1																	67559074		2203	4298	6501	67331662	SO:0001583	missense	400757			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.817C>G	1.37:g.67559074G>C	ENSP00000360046:p.Pro273Ala		67331662	Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478605	0.26511	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.31769	1.48;1.48;1.48	4.66	-2.04	0.07343	.	1.016720	0.07878	N	0.969119	T	0.05686	0.0149	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.22152	0.038	T	0.41215	-0.9521	10	0.18276	T	0.48	1.0971	5.2647	0.15593	0.4376:0.1429:0.4195:0.0	.	273	Q5JVX7	CA141_HUMAN	A	273	ENSP00000360046:P273A;ENSP00000360045:P273A;ENSP00000444018:P273A	ENSP00000360045:P273A	P	-	1	0	C1orf141	67331662	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.001000	0.03690	-0.504000	0.06577	0.561000	0.74099	CCT		0.313	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		C	67559074	G	C	67559074	3	2	194	1	0	0	0	0	1	0	0	0	2001	1203	42	3	389	3	C1orf141	1	67559074	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08	26781690	67559074	181691547	3	11190											
ST6GALNAC3	256435	broad.mit.edu	37	1	76779491	76779491	+	Splice_Site	SNP	G	G	T	rs555017128		TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr1:76779491G>T	ENST00000328299.3	+	2	168	c.20G>T	c.(19-21)aGa>aTa	p.R7I		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	7					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.R7I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GTTTTGTAGAGAAAGTCTGTG	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											144	130	135					1																	76779491		2203	4300	6503	76552079	SO:0001630	splice_region_variant	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.19-1G>T	1.37:g.76779491G>T			76552079	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388015	0.61956	.	.	ENSG00000184005	ENST00000328299;ENST00000394993	T	0.33216	1.42	5.26	4.34	0.51931	.	0.184880	0.56097	N	0.000024	T	0.19685	0.0473	L	0.29908	0.895	0.52099	D	0.99994	P;P	0.45176	0.61;0.852	B;P	0.47705	0.103;0.555	T	0.02121	-1.1210	10	0.72032	D	0.01	-5.5151	12.3621	0.55209	0.0815:0.0:0.9185:0.0	.	7;7	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	I	7;6	ENSP00000329214:R7I	ENSP00000329214:R7I	R	+	2	0	ST6GALNAC3	76552079	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	3.785000	0.55424	2.462000	0.83206	0.491000	0.48974	AGA		0.378	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	Missense_Mutation	T	76779491	G	T	76779491	5	4	194	1	0	0	0	0	0	0	1	0	15227	956	33	3	26	3	ST6GALNAC3	1	76779491	Splice_Site	SNP	G	TCGA-23-2077-01A-01W-0722-08	9220417	76779491	172471130	4	11191											
OVGP1	5016	broad.mit.edu	37	1	111964026	111964026	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr1:111964026C>T	ENST00000369732.3	-	8	830	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	259					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.G259R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GTGGGGATCCCCATGATGAGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											113	112	113					1																	111964026		2203	4300	6503	111765549	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.775G>A	1.37:g.111964026C>T	ENSP00000358747:p.Gly259Arg		111765549	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764801	0.90020	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.20069	2.1	5.08	5.08	0.68730	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048832	0.85682	D	0.000000	T	0.60366	0.2263	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77267	-0.2651	10	0.87932	D	0	-26.6177	15.9896	0.80193	0.0:1.0:0.0:0.0	.	259;323	Q12889;Q59HH5	OVGP1_HUMAN;.	R	259;323;67	ENSP00000358747:G259R	ENSP00000358743:G323R	G	-	1	0	OVGP1	111765549	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	6.749000	0.74883	2.635000	0.89317	0.491000	0.48974	GGG		0.512	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		T	111964026	C	T	111964026	3	4	194	1	0	0	0	0	1	0	0	0	11325	623	22	2	1277	2	OVGP1	1	111964026	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	35184535	111964026	137286595	5	11192											
LCE2B	26239	broad.mit.edu	37	1	152659649	152659649	+	Silent	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr1:152659649C>T	ENST00000368780.3	+	2	384	c.330C>T	c.(328-330)tgC>tgT	p.C110C	LCE2B_ENST00000417924.2_Silent_p.C110C	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	110	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)			p.C110C(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCTGCTGCTGACCTGGGC	0.577																																																1	Substitution - coding silent(1)	ovary(1)	1											32	39	37					1																	152659649		2163	4260	6423	150926273	SO:0001819	synonymous_variant	26239			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.330C>T	1.37:g.152659649C>T			150926273	Q5TA80	Silent	SNP	ENST00000368780.3	37	CCDS1020.1																																																																																				0.577	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		T	152659649	C	T	152659649	2	4	194	1	0	0	0	0	0	0	0	1	8666	805	28	2		2	LCE2B	1	152659649	Silent	SNP	C	TCGA-23-2077-01A-01W-0722-08	40695623	152659649	96590972	6	11193											
PGBD5	79605	broad.mit.edu	37	1	230513265	230513265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr1:230513265G>A	ENST00000525115.1	-	1	126	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	PGBD5_ENST00000321327.2_Nonsense_Mutation_p.Q35*|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	35						integral component of membrane (GO:0016021)		p.Q35*(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TCGCTTGGCTGCAGATCCCGG	0.527																																																1	Substitution - Nonsense(1)	ovary(1)	1											65	56	59					1																	230513265		2203	4300	6503	228579888	SO:0001587	stop_gained	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.103C>T	1.37:g.230513265G>A	ENSP00000431404:p.Gln35*		228579888	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Nonsense_Mutation	SNP	ENST00000525115.1	37		.	.	.	.	.	.	.	.	.	.	G	14.19	2.462109	0.43736	.	.	ENSG00000177614	ENST00000321327;ENST00000525115	.	.	.	2.84	-5.68	0.02436	.	12.972700	0.00531	U	0.000215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	3.3465	7.0964	0.25311	0.2597:0.153:0.5873:0.0	.	.	.	.	X	35	.	ENSP00000322530:Q35X	Q	-	1	0	PGBD5	228579888	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.447000	0.02396	-1.806000	0.01237	-0.300000	0.09419	CAG		0.527	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		A	230513265	G	A	230513265	4	1	194	1	0	0	0	0	0	1	0	0	11784	1328	46	2	1292	2	PGBD5	1	230513265	Nonsense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08	77853616	230513265	18737356	7	11194											
ZNF670	93474	broad.mit.edu	37	1	247201191	247201191	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr1:247201191C>T	ENST00000366503.2	-	4	888	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E244K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TGAGATCTTTCATGTTGGCGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											82	84	83					1																	247201191		2203	4300	6503	245267814	SO:0001583	missense	93474				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"Zinc fingers, C2H2-type", "-"	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.730G>A	1.37:g.247201191C>T	ENSP00000355459:p.Glu244Lys		245267814		Missense_Mutation	SNP	ENST00000366503.2	37	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496064	0.26774	.	.	ENSG00000135747	ENST00000366503	T	0.07327	3.2	0.641	0.641	0.17759	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03095	0.0091	N	0.03016	-0.435	0.19775	N	0.999951	B	0.24576	0.106	B	0.29663	0.105	T	0.48559	-0.9025	9	0.18710	T	0.47	.	4.4357	0.11549	1.0E-4:0.5719:0.428:0.0	.	244	Q9BS34	ZN670_HUMAN	K	244	ENSP00000355459:E244K	ENSP00000355459:E244K	E	-	1	0	ZNF670	245267814	0.001000	0.12720	0.004000	0.12327	0.018000	0.09664	0.098000	0.15189	0.604000	0.29930	0.467000	0.42956	GAA		0.398	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		T	247201191	C	T	247201191	3	4	194	1	0	0	0	0	1	0	0	0	18077	835	29	2	443	2	ZNF670	1	247201191	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	16687926	247201191	2049430	8	11195											
PXDN	7837	broad.mit.edu	37	2	1652025	1652025	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr2:1652025T>G	ENST00000252804.4	-	17	3577	c.3527A>C	c.(3526-3528)tAc>tCc	p.Y1176S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1176					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Y1176S(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TAGATTGCAGTAGACCCTGTA	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											118	125	123					2																	1652025		1995	4179	6174	1631032	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3527A>C	2.37:g.1652025T>G	ENSP00000252804:p.Tyr1176Ser		1631032	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311577	0.60414	.	.	ENSG00000130508	ENST00000252804	T	0.66815	-0.23	5.48	5.48	0.80851	.	0.062021	0.64402	D	0.000002	T	0.64864	0.2637	L	0.41124	1.26	0.52099	D	0.999941	P	0.41624	0.757	P	0.47626	0.552	T	0.68337	-0.5435	10	0.72032	D	0.01	-53.5128	10.8021	0.46495	0.1412:0.0:0.0:0.8588	.	1176	Q92626	PXDN_HUMAN	S	1176	ENSP00000252804:Y1176S	ENSP00000252804:Y1176S	Y	-	2	0	PXDN	1631032	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.227000	0.58612	2.092000	0.63282	0.529000	0.55759	TAC		0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		G	1652025	T	G	1652025	3	3	194	1	0	0	0	0	1	0	0	0	12850	1638	57	5	940	5	PXDN	2	1652025	Missense_Mutation	SNP	T	TCGA-23-2077-01A-01W-0722-08		1652025	241547348	9	11196											
LRP2	4036	broad.mit.edu	37	2	170070307	170070307	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr2:170070307G>T	ENST00000263816.3	-	36	6185	c.5900C>A	c.(5899-5901)gCa>gAa	p.A1967E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1967					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A1967E(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATCATGGACTGCAATTCCCCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											95	94	94					2																	170070307		2203	4300	6503	169778553	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5900C>A	2.37:g.170070307G>T	ENSP00000263816:p.Ala1967Glu		169778553	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027486	0.75390	.	.	ENSG00000081479	ENST00000263816	D	0.92965	-3.14	5.96	3.12	0.35913	Six-bladed beta-propeller, TolB-like (1);	0.265184	0.42821	D	0.000657	D	0.94062	0.8097	M	0.81614	2.55	0.80722	D	1	D	0.64830	0.994	P	0.58130	0.833	D	0.92435	0.5957	10	0.66056	D	0.02	.	8.2908	0.31956	0.1358:0.0:0.7368:0.1274	.	1967	P98164	LRP2_HUMAN	E	1967	ENSP00000263816:A1967E	ENSP00000263816:A1967E	A	-	2	0	LRP2	169778553	1.000000	0.71417	0.223000	0.23860	0.711000	0.40976	5.504000	0.66968	0.376000	0.24707	0.650000	0.86243	GCA		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170070307	G	T	170070307	3	4	194	1	0	0	0	0	1	0	0	0	8956	1319	46	3	8243	3	LRP2	2	170070307	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08	168418282	170070307	73129066	10	11197											
MTX2	10651	broad.mit.edu	37	2	177191609	177191609	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr2:177191609G>A	ENST00000249442.6	+	5	476	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	MTX2_ENST00000443241.1_Missense_Mutation_p.V33I|MTX2_ENST00000392529.2_Missense_Mutation_p.V79I	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	89					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.V89I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGGTCCAATAGTCCAATTTGT	0.279																																																1	Substitution - Missense(1)	ovary(1)	2											63	69	67					2																	177191609		2201	4279	6480	176899855	SO:0001583	missense	10651			AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.265G>A	2.37:g.177191609G>A	ENSP00000249442:p.Val89Ile		176899855	A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Missense_Mutation	SNP	ENST00000249442.6	37	CCDS2272.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054357	0.55218	.	.	ENSG00000128654	ENST00000249442;ENST00000392529;ENST00000443241;ENST00000452865	T;T;T;T	0.37235	2.63;2.63;1.21;2.63	5.44	4.55	0.56014	.	0.059595	0.64402	N	0.000003	T	0.25644	0.0624	L	0.34521	1.04	0.58432	D	0.999999	B;B	0.15141	0.001;0.012	B;B	0.20955	0.032;0.022	T	0.08310	-1.0728	10	0.02654	T	1	-13.1181	14.555	0.68094	0.0716:0.0:0.9284:0.0	.	89;79	O75431;Q8IZ68	MTX2_HUMAN;.	I	89;79;33;89	ENSP00000249442:V89I;ENSP00000376314:V79I;ENSP00000414176:V33I;ENSP00000398757:V89I	ENSP00000249442:V89I	V	+	1	0	MTX2	176899855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.388000	0.79795	1.264000	0.44198	0.557000	0.71058	GTC		0.279	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255695.4	NM_006554		A	177191609	G	A	177191609	3	1	194	1	0	0	0	0	1	0	0	0	9968	1029	36	2	283	2	MTX2	2	177191609	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08	7121302	177191609	66007764	11	11198											
COL4A4	1286	broad.mit.edu	37	2	227872074	227872074	+	Silent	SNP	G	G	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr2:227872074G>T	ENST00000396625.3	-	48	5247	c.5040C>A	c.(5038-5040)atC>atA	p.I1680I	COL4A4_ENST00000329662.7_Silent_p.I1677I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1680	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.I1680I(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGCACCGGCTGATTTTCTGGC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	2											352	352	352					2																	227872074		1963	4164	6127	227580318	SO:0001819	synonymous_variant	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.5040C>A	2.37:g.227872074G>T			227580318	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	CCDS42828.1																																																																																				0.502	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		T	227872074	G	T	227872074	2	4	194	1	0	0	0	0	0	0	0	1	3693	1280	45	3		3	COL4A4	2	227872074	Silent	SNP	G	TCGA-23-2077-01A-01W-0722-08	50680465	227872074	15327299	12	11199											
GIGYF2	26058	broad.mit.edu	37	2	233684544	233684544	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr2:233684544C>T	ENST00000409547.1	+	23	2689	c.2378C>T	c.(2377-2379)gCt>gTt	p.A793V	GIGYF2_ENST00000373566.3_Missense_Mutation_p.A815V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A815V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A787V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A793V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A814V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A624V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	793	Gln-rich.|Glu-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A793V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TAGGAAGAGGCTCTGCGTCGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											28	32	31					2																	233684544		2203	4300	6503	233392788	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2378C>T	2.37:g.233684544C>T	ENSP00000386537:p.Ala793Val		233392788	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659620	0.67586	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T	0.76968	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.06	5.04	5.04	0.67666	.	0.051269	0.85682	D	0.000000	T	0.79633	0.4479	L	0.40543	1.245	0.58432	D	0.999999	D;P;P;P	0.54207	0.965;0.888;0.888;0.888	P;B;B;B	0.53266	0.722;0.3;0.3;0.3	T	0.78738	-0.2087	10	0.36615	T	0.2	-5.3235	18.3852	0.90464	0.0:1.0:0.0:0.0	.	624;814;793;787	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	815;793;815;793;787;814;787;624	ENSP00000362667:A815V;ENSP00000362664:A793V;ENSP00000386765:A815V;ENSP00000386537:A793V;ENSP00000387070:A787V;ENSP00000387170:A814V;ENSP00000410297:A787V;ENSP00000411505:A624V	ENSP00000362664:A793V	A	+	2	0	GIGYF2	233392788	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.007000	0.70731	2.333000	0.79357	0.462000	0.41574	GCT		0.473	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		T	233684544	C	T	233684544	3	4	194	1	0	0	0	0	1	0	0	0	6378	797	28	2	2522	2	GIGYF2	2	233684544	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	5812470	233684544	9514829	13	11200											
ABCF3	55324	broad.mit.edu	37	3	183909027	183909027	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr3:183909027A>T	ENST00000429586.2	+	16	1738	c.1553A>T	c.(1552-1554)gAg>gTg	p.E518V	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.E512V	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	518	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E518V(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGATCTCGAGTCTCGCATC	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											188	162	171					3																	183909027		2203	4300	6503	185391721	SO:0001583	missense	55324			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1553A>T	3.37:g.183909027A>T	ENSP00000411471:p.Glu518Val		185391721	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834964	0.91036	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	T;T	0.80393	-1.37;-1.37	5.93	5.93	0.95920	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.100946	0.64402	D	0.000003	T	0.79616	0.4476	L	0.43923	1.385	0.80722	D	1	P;P	0.52692	0.897;0.955	P;P	0.46975	0.533;0.52	T	0.82295	-0.0528	10	0.87932	D	0	-25.7026	15.5577	0.76213	1.0:0.0:0.0:0.0	.	512;518	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	V	518;512	ENSP00000411471:E518V;ENSP00000292808:E512V	ENSP00000292808:E512V	E	+	2	0	ABCF3	185391721	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.962000	0.93254	2.263000	0.75096	0.533000	0.62120	GAG		0.537	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		T	183909027	A	T	183909027	3	4	194	1	0	0	0	0	1	0	0	0	67	304	11	5	1615	5	ABCF3	3	183909027	Missense_Mutation	SNP	A	TCGA-23-2077-01A-01W-0722-08		183909027	14113403	14	11201											
HEATR7B2	133558	broad.mit.edu	37	5	41048528	41048528	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr5:41048528C>G	ENST00000399564.4	-	16	2032	c.1582G>C	c.(1582-1584)Gct>Cct	p.A528P	MROH2B_ENST00000506092.2_Missense_Mutation_p.A83P	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	528								p.A528P(1)									ATTGCACCAGCCCCACGTAAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	5											93	86	88					5																	41048528		1883	4103	5986	41084285	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1582G>C	5.37:g.41048528C>G	ENSP00000382476:p.Ala528Pro		41084285	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	9.330	1.060365	0.19987	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.09255	3.0;3.0	4.87	1.16	0.20824	Armadillo-type fold (1);	0.866255	0.10125	N	0.712891	T	0.13457	0.0326	L	0.55481	1.735	0.09310	N	1	P	0.35656	0.514	B	0.41332	0.354	T	0.28933	-1.0028	10	0.45353	T	0.12	.	6.4791	0.22053	0.0:0.6078:0.0:0.3922	.	528	Q7Z745	HTRB2_HUMAN	P	83;232;528	ENSP00000441504:A83P;ENSP00000382476:A528P	ENSP00000296803:A232P	A	-	1	0	HEATR7B2	41084285	0.009000	0.17119	0.048000	0.18961	0.082000	0.17680	0.382000	0.20635	0.357000	0.24183	-0.137000	0.14449	GCT		0.453	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		G	41048528	C	G	41048528	3	3	194	1	0	0	0	0	1	0	0	0	7035	739	26	3	3283	3	HEATR7B2	5	41048528	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08		41048528	139866732	15	11202											
GMPR	2766	broad.mit.edu	37	6	16290697	16290697	+	Silent	SNP	T	T	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr6:16290697T>A	ENST00000259727.4	+	8	816	c.702T>A	c.(700-702)gcT>gcA	p.A234A	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	234			A -> T. {ECO:0000269|PubMed:1757097}.		nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.A234A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				ATTTAGGAGCTGGAGCAGATT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	6											272	268	269					6																	16290697		2203	4300	6503	16398676	SO:0001819	synonymous_variant	2766				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.702T>A	6.37:g.16290697T>A			16398676	Q96HQ6	Silent	SNP	ENST00000259727.4	37	CCDS4537.1																																																																																				0.512	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			A	16290697	T	A	16290697	2	1	194	1	0	0	0	0	0	0	0	1	6496	1567	55	5		5	GMPR	6	16290697	Silent	SNP	T	TCGA-23-2077-01A-01W-0722-08		16290697	154824370	16	11203											
OR5V1	81696	broad.mit.edu	37	6	29323191	29323191	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr6:29323191C>T	ENST00000377154.1	-	4	1081	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	OR5V1_ENST00000543825.1_Missense_Mutation_p.R261Q			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261Q(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAGATGGGCCGTACATATGT	0.433																																					Ovarian(32;43 883 21137 32120 42650)											1	Substitution - Missense(1)	ovary(1)	6											89	88	88					6																	29323191		2203	4299	6502	29431170	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.782G>A	6.37:g.29323191C>T	ENSP00000366359:p.Arg261Gln		29431170	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	8.751	0.921178	0.17982	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.37235	1.21;1.21	4.53	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.279943	0.18565	N	0.137514	T	0.29093	0.0723	L	0.39898	1.24	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.08617	-1.0713	10	0.30854	T	0.27	-6.5251	9.5835	0.39501	0.0:0.7573:0.0:0.2427	.	261	Q9UGF6	OR5V1_HUMAN	Q	261	ENSP00000366359:R261Q;ENSP00000443309:R261Q	ENSP00000366356:R261Q	R	-	2	0	OR5V1	29431170	0.000000	0.05858	0.067000	0.19924	0.699000	0.40488	-0.564000	0.05936	0.634000	0.30469	0.543000	0.68304	CGG		0.433	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			T	29323191	C	T	29323191	3	4	194	1	0	0	0	0	1	0	0	0	11184	652	23	1	186	1	OR5V1	6	29323191	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	13032494	29323191	141791876	17	11204											
TFAP2D	83741	broad.mit.edu	37	6	50740384	50740384	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr6:50740384C>T	ENST00000008391.3	+	8	1394	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.P389L(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTTGGGACTCCGGCAATATGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	6											56	55	55					6																	50740384		2203	4300	6503	50848343	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1166C>T	6.37:g.50740384C>T	ENSP00000008391:p.Pro389Leu		50848343		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309643	0.81247	.	.	ENSG00000008197	ENST00000008391	D	0.96992	-4.2	5.46	5.46	0.80206	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98903	1.0777	10	0.87932	D	0	-13.8523	19.3034	0.94151	0.0:1.0:0.0:0.0	.	389	Q7Z6R9	AP2D_HUMAN	L	389	ENSP00000008391:P389L	ENSP00000008391:P389L	P	+	2	0	TFAP2D	50848343	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.577000	0.86979	0.467000	0.42956	CCG		0.428	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		T	50740384	C	T	50740384	3	4	194	1	0	0	0	0	1	0	0	0	15790	652	23	1	1196	1	TFAP2D	6	50740384	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	21417193	50740384	120374683	18	11205											
BAZ1B	9031	broad.mit.edu	37	7	72907176	72907176	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr7:72907176T>A	ENST00000339594.4	-	5	985	c.647A>T	c.(646-648)aAa>aTa	p.K216I	BAZ1B_ENST00000404251.1_Missense_Mutation_p.K216I	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	216	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.K216I(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCAGAAATTTTGGAGGAGC	0.333																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											1	Substitution - Missense(1)	ovary(1)	7											121	118	119					7																	72907176		2203	4299	6502	72545112	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.647A>T	7.37:g.72907176T>A	ENSP00000342434:p.Lys216Ile		72545112	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	31	5.078816	0.94050	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.62232	0.04;0.04	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	L	0.34521	1.04	0.58432	D	0.999999	D	0.59767	0.986	P	0.53649	0.731	T	0.64884	-0.6302	10	0.46703	T	0.11	-11.6195	15.1539	0.72723	0.0:0.0:0.0:1.0	.	216	Q9UIG0	BAZ1B_HUMAN	I	216	ENSP00000342434:K216I;ENSP00000385442:K216I	ENSP00000342434:K216I	K	-	2	0	BAZ1B	72545112	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.114000	0.77103	2.172000	0.68678	0.477000	0.44152	AAA		0.333	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		A	72907176	T	A	72907176	3	1	194	1	0	0	0	0	1	0	0	0	1330	1841	64	5	3864	5	BAZ1B	7	72907176	Missense_Mutation	SNP	T	TCGA-23-2077-01A-01W-0722-08		72907176	86231487	19	11206											
ABCB1	5243	broad.mit.edu	37	7	87173491	87173491	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr7:87173491C>A	ENST00000265724.3	-	18	2582	c.2165G>T	c.(2164-2166)gGa>gTa	p.G722V	ABCB1_ENST00000543898.1_Missense_Mutation_p.G658V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	722	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G722V(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTGCAGGCCTCCATTTATAAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											111	110	110					7																	87173491		2203	4300	6503	87011427	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2165G>T	7.37:g.87173491C>A	ENSP00000265724:p.Gly722Val		87011427	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011495	0.75046	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92048	-2.96;-2.96	6.01	6.01	0.97437	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.098391	0.64402	D	0.000001	D	0.97873	0.9301	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98354	1.0545	10	0.87932	D	0	-21.6625	20.5211	0.99222	0.0:1.0:0.0:0.0	.	658;722	B5AK60;P08183	.;MDR1_HUMAN	V	503;722;658	ENSP00000265724:G722V;ENSP00000444095:G658V	ENSP00000265724:G722V	G	-	2	0	ABCB1	87011427	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	7.243000	0.78219	2.861000	0.98227	0.650000	0.86243	GGA		0.358	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87173491	C	A	87173491	3	1	194	1	0	0	0	0	1	0	0	0	40	855	30	3	1725	3	ABCB1	7	87173491	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	14266315	87173491	71965172	20	11207											
BAIAP2L1	55971	broad.mit.edu	37	7	97937073	97937073	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr7:97937073C>G	ENST00000005260.8	-	10	1306	c.1091G>C	c.(1090-1092)gGa>gCa	p.G364A	BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000608882.1_RNA|RP4-607J23.2_ENST00000609873.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	364	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.G364A(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GATGACATCTCCCTGTGCAAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											204	148	167					7																	97937073		2203	4300	6503	97775009	SO:0001583	missense	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1091G>C	7.37:g.97937073C>G	ENSP00000005260:p.Gly364Ala		97775009	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901586	0.72754	.	.	ENSG00000006453	ENST00000005260	T	0.69435	-0.4	4.87	3.99	0.46301	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.82006	0.4943	M	0.90650	3.135	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.85350	0.1101	10	0.66056	D	0.02	-14.97	12.7419	0.57257	0.0:0.9196:0.0:0.0804	.	364	Q9UHR4	BI2L1_HUMAN	A	364	ENSP00000005260:G364A	ENSP00000005260:G364A	G	-	2	0	AC093799.1	97775009	1.000000	0.71417	0.988000	0.46212	0.775000	0.43874	5.741000	0.68638	1.195000	0.43115	-0.252000	0.11476	GGA		0.557	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		G	97937073	C	G	97937073	3	3	194	1	0	0	0	0	1	0	0	0	1302	855	30	3	464	3	BAIAP2L1	7	97937073	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	10763582	97937073	61201590	21	11208											
DENND2A	27147	broad.mit.edu	37	7	140302091	140302091	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr7:140302091C>G	ENST00000275884.6	-	2	524	c.107G>C	c.(106-108)aGa>aCa	p.R36T	DENND2A_ENST00000492720.1_Missense_Mutation_p.R36T|DENND2A_ENST00000537639.1_Missense_Mutation_p.R36T|DENND2A_ENST00000496613.1_Missense_Mutation_p.R36T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	36					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R36T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGGTCTGGCTCTGGCAGATGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											139	129	132					7																	140302091		1938	4160	6098	139948560	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.107G>C	7.37:g.140302091C>G	ENSP00000275884:p.Arg36Thr		139948560	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806522	0.31961	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.91	-1.74	0.08056	.	2.488840	0.01905	N	0.039448	T	0.70272	0.3205	L	0.52573	1.65	0.09310	N	1	B;P	0.37914	0.302;0.611	B;B	0.32533	0.124;0.147	T	0.59778	-0.7390	10	0.72032	D	0.01	5.9864	6.9419	0.24498	0.0:0.2111:0.256:0.5329	.	36;36	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	T	36	ENSP00000275884:R36T;ENSP00000442245:R36T;ENSP00000419654:R36T;ENSP00000419464:R36T;ENSP00000418844:R36T;ENSP00000418088:R36T	ENSP00000275884:R36T	R	-	2	0	DENND2A	139948560	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.429000	0.06982	-0.598000	0.05806	-0.136000	0.14681	AGA		0.547	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		G	140302091	C	G	140302091	3	3	194	1	0	0	0	0	1	0	0	0	4429	913	32	3	2994	3	DENND2A	7	140302091	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	42365018	140302091	18836572	22	11209											
OR2A7	401427	broad.mit.edu	37	7	143955998	143955998	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr7:143955998A>G	ENST00000493325.1	-	1	817	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P	ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S242P(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CAGAGGTGGGAGAAGCAGGTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	7											199	202	201					7																	143955998		2203	4300	6503	143586931	SO:0001583	missense	401427				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.724T>C	7.37:g.143955998A>G	ENSP00000420502:p.Ser242Pro		143586931	B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	a	9.919	1.211737	0.22289	.	.	ENSG00000243896	ENST00000493325	T	0.39592	1.07	3.17	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66297	0.2775	M	0.86864	2.845	0.29099	N	0.881613	D	0.89917	1.0	D	0.97110	1.0	T	0.61098	-0.7131	9	0.87932	D	0	.	10.0247	0.42063	1.0:0.0:0.0:0.0	.	242	Q96R45	OR2A7_HUMAN	P	242	ENSP00000420502:S242P	ENSP00000420502:S242P	S	-	1	0	OR2A7	143586931	0.990000	0.36364	0.997000	0.53966	0.095000	0.18619	2.857000	0.48349	1.676000	0.50930	0.416000	0.27883	TCC		0.458	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			G	143955998	A	G	143955998	3	3	194	1	0	0	0	0	1	0	0	0	10982	304	11	4	211	4	OR2A7	7	143955998	Missense_Mutation	SNP	A	TCGA-23-2077-01A-01W-0722-08	3653907	143955998	15182665	23	11210											
EIF3E	3646	broad.mit.edu	37	8	109240604	109240604	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr8:109240604A>T	ENST00000220849.5	-	7	676	c.614T>A	c.(613-615)cTt>cAt	p.L205H	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.L112H|RP11-35G22.1_ENST00000520037.1_RNA	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.L205H(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAGAGACTGAAGTGGAGAACT	0.348																																					GBM(15;360 410 8460 34179 52246)											1	Substitution - Missense(1)	ovary(1)	8											74	74	74					8																	109240604		2203	4300	6503	109309780	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.614T>A	8.37:g.109240604A>T	ENSP00000220849:p.Leu205His		109309780		Missense_Mutation	SNP	ENST00000220849.5	37	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575827	0.86645	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.51817	0.69;0.69;0.69	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.75884	2.315	0.80722	D	1	D;P	0.89917	1.0;0.939	D;B	0.91635	0.999;0.446	T	0.73375	-0.4002	10	0.87932	D	0	-11.5618	15.9153	0.79512	1.0:0.0:0.0:0.0	.	205;205	B2R806;P60228	.;EIF3E_HUMAN	H	205;112;78	ENSP00000220849:L205H;ENSP00000428796:L112H;ENSP00000430839:L78H	ENSP00000220849:L205H	L	-	2	0	EIF3E	109309780	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.287000	0.95975	2.213000	0.71641	0.477000	0.44152	CTT		0.348	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		T	109240604	A	T	109240604	3	4	194	1	0	0	0	0	1	0	0	0	5015	72	3	5	751	5	EIF3E	8	109240604	Missense_Mutation	SNP	A	TCGA-23-2077-01A-01W-0722-08		109240604	37123418	24	11211											
ASAP1	50807	broad.mit.edu	37	8	131073206	131073206	+	Silent	SNP	T	T	C			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr8:131073206T>C	ENST00000518721.1	-	28	3038	c.2811A>G	c.(2809-2811)ggA>ggG	p.G937G	ASAP1_ENST00000357668.1_Silent_p.G937G	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	937	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.G937G(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGGGCAGGTCTCCAGGTGGTG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	8											92	110	104					8																	131073206		2203	4300	6503	131142388	SO:0001819	synonymous_variant	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2811A>G	8.37:g.131073206T>C			131142388	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.248660	0.22880	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.43	1.85	0.25348	.	.	.	.	.	T	0.55862	0.1947	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47699	-0.9097	4	.	.	.	.	8.2688	0.31831	0.0:0.229:0.0:0.771	.	.	.	.	G	758;294	.	.	R	-	1	2	ASAP1	131142388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.758000	0.26447	0.380000	0.24823	0.533000	0.62120	AGA		0.562	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		C	131073206	T	C	131073206	2	2	194	1	0	0	0	0	0	0	0	1	1010	1538	54	4		4	ASAP1	8	131073206	Silent	SNP	T	TCGA-23-2077-01A-01W-0722-08	21832602	131073206	15290816	25	11212											
ERMP1	79956	broad.mit.edu	37	9	5801200	5801200	+	Silent	SNP	C	C	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr9:5801200C>G	ENST00000339450.5	-	11	2132	c.2043G>C	c.(2041-2043)ccG>ccC	p.P681P	ERMP1_ENST00000543230.1_Silent_p.P259P|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	681						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.P681P(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TCTTTGGCTTCGGATTAGCAG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	9											116	113	114					9																	5801200		2203	4300	6503	5791200	SO:0001819	synonymous_variant	79956			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2043G>C	9.37:g.5801200C>G			5791200	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																				0.398	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		G	5801200	C	G	5801200	2	3	194	1	0	0	0	0	0	0	0	1	5236	871	31	3		3	ERMP1	9	5801200	Silent	SNP	C	TCGA-23-2077-01A-01W-0722-08		5801200	135412231	26	11213											
TMEM2	23670	broad.mit.edu	37	9	74365245	74365245	+	Silent	SNP	T	T	C			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr9:74365245T>C	ENST00000377044.4	-	2	584	c.45A>G	c.(43-45)caA>caG	p.Q15Q	TMEM2_ENST00000377066.5_Silent_p.Q15Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	15					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q15Q(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATTCTGAGGTTGGAGGAAAG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	9											66	66	66					9																	74365245		2203	4300	6503	73555065	SO:0001819	synonymous_variant	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.45A>G	9.37:g.74365245T>C			73555065	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	CCDS6638.1																																																																																				0.453	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		C	74365245	T	C	74365245	2	2	194	1	0	0	0	0	0	0	0	1	16121	1722	60	4		4	TMEM2	9	74365245	Silent	SNP	T	TCGA-23-2077-01A-01W-0722-08	68564045	74365245	66848186	27	11214											
FAM21C	253725	broad.mit.edu	37	10	46272810	46272810	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr10:46272810G>C	ENST00000336378.4	+	22	2344	c.2226G>C	c.(2224-2226)aaG>aaC	p.K742N	FAM21C_ENST00000374362.2_Missense_Mutation_p.K744N|FAM21C_ENST00000359860.4_Missense_Mutation_p.K686N|FAM21C_ENST00000540872.1_Missense_Mutation_p.K744N|FAM21C_ENST00000537517.1_Intron	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	742					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.K741N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTGTGGATAAGAAGGTTGAGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											133	133	133					10																	46272810		1820	4048	5868	45592816	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2226G>C	10.37:g.46272810G>C	ENSP00000337541:p.Lys742Asn		45592816	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	G	3.429	-0.116532	0.06838	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.01	3.01	0.34805	.	1.772090	0.02631	N	0.104260	T	0.48466	0.1501	M	0.65975	2.015	0.09310	N	0.999999	B;B	0.21071	0.051;0.051	B;B	0.14023	0.01;0.01	T	0.33085	-0.9882	9	0.20519	T	0.43	-0.2029	9.7037	0.40203	0.0:0.0:1.0:0.0	.	744;742	Q9Y4E1-4;Q9Y4E1	.;FA21C_HUMAN	N	742;744;744;744;686;656	.	ENSP00000337541:K742N	K	+	3	2	FAM21C	45592816	0.998000	0.40836	0.062000	0.19696	0.384000	0.30261	4.259000	0.58828	1.719000	0.51432	0.289000	0.19496	AAG		0.423	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				C	46272810	G	C	46272810	3	2	194	1	0	0	0	0	1	0	0	0	5542	933	33	3	2318	3	FAM21C	10	46272810	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08		46272810	89261937	28	11215											
OR8K3	219473	broad.mit.edu	37	11	56085842	56085842	+	Silent	SNP	C	C	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr11:56085842C>A	ENST00000312711.1	+	1	60	c.60C>A	c.(58-60)atC>atA	p.I20I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I20I(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCACAGATATCGCTGAGCTGC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	11											171	153	159					11																	56085842		2201	4295	6496	55842418	SO:0001819	synonymous_variant	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.60C>A	11.37:g.56085842C>A			55842418	Q6IFC4	Silent	SNP	ENST00000312711.1	37	CCDS31527.1																																																																																				0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		A	56085842	C	A	56085842	2	1	194	1	0	0	0	0	0	0	0	1	11244	874	31	3		3	OR8K3	11	56085842	Silent	SNP	C	TCGA-23-2077-01A-01W-0722-08		56085842	78920674	29	11216											
TAF6L	10629	broad.mit.edu	37	11	62545450	62545450	+	Splice_Site	SNP	G	G	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr11:62545450G>A	ENST00000294168.3	+	4	436	c.235G>A	c.(235-237)Gct>Act	p.A79T	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	79					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.A79T(2)		endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TTTTCCTCAGGCTGTGTGTGG	0.592																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	11											86	77	80					11																	62545450		2201	4299	6500	62302026	SO:0001630	splice_region_variant	10629			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.235-1G>A	11.37:g.62545450G>A			62302026	B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868615	0.51588	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.47177	0.85;0.9	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	N	0.16478	0.41	0.80722	D	1	B;B	0.17852	0.003;0.024	B;B	0.15052	0.005;0.012	T	0.10683	-1.0619	9	.	.	.	-0.8087	17.5103	0.87758	0.0:0.0:1.0:0.0	.	79;79	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	T	79	ENSP00000294168:A79T;ENSP00000434662:A79T	.	A	+	1	0	TAF6L	62302026	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	6.833000	0.75334	2.740000	0.93945	0.455000	0.32223	GCT		0.592	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473	Missense_Mutation	A	62545450	G	A	62545450	5	1	194	1	0	0	0	0	0	0	1	0	15531	1217	42	2	245	2	TAF6L	11	62545450	Splice_Site	SNP	G	TCGA-23-2077-01A-01W-0722-08	6459608	62545450	72461066	30	11217											
KDELC2	143888	broad.mit.edu	37	11	108350193	108350193	+	Silent	SNP	G	G	A	rs183206038		TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr11:108350193G>A	ENST00000323468.5	-	6	1193	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	KDELC2_ENST00000375648.1_Silent_p.T320T|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000434945.2_Silent_p.T320T	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	376						endoplasmic reticulum (GO:0005783)		p.T376T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AAGCAGCCACGGTCCCATCCA	0.408													G|||	1	0.000199681	0	0	5008	,	,		16437	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	11											68	66	67					11																	108350193		1946	4144	6090	107855403	SO:0001819	synonymous_variant	143888			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1128C>T	11.37:g.108350193G>A			107855403	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	37	CCDS41711.1																																																																																				0.408	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		A	108350193	G	A	108350193	2	1	194	1	0	0	0	0	0	0	0	1	8118	1103	39	1		1	KDELC2	11	108350193	Silent	SNP	G	TCGA-23-2077-01A-01W-0722-08	45804743	108350193	26656323	31	11218											
CAPZA3	93661	broad.mit.edu	37	12	18891609	18891609	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr12:18891609G>C	ENST00000317658.3	+	1	565	c.407G>C	c.(406-408)gGa>gCa	p.G136A	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	136					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.G136A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TATCCAAAAGGAAATTGCAAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											88	81	83					12																	18891609		2203	4300	6503	18782876	SO:0001583	missense	93661			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.407G>C	12.37:g.18891609G>C	ENSP00000326238:p.Gly136Ala		18782876	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053792	0.36277	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	L	0.52011	1.625	0.49687	D	0.999812	D	0.76494	0.999	D	0.91635	0.999	T	0.76353	-0.2990	9	0.87932	D	0	-16.7324	14.3621	0.66779	0.0:0.0:1.0:0.0	.	136	Q96KX2	CAZA3_HUMAN	A	136	.	ENSP00000326238:G136A	G	+	2	0	CAPZA3	18782876	1.000000	0.71417	0.896000	0.35187	0.204000	0.24138	4.228000	0.58619	2.426000	0.82243	0.462000	0.41574	GGA		0.403	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		C	18891609	G	C	18891609	3	2	194	1	0	0	0	0	1	0	0	0	2642	1174	41	3	409	3	CAPZA3	12	18891609	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08		18891609	114960286	32	11219											
ALG10B	144245	broad.mit.edu	37	12	38710737	38710737	+	Missense_Mutation	SNP	C	C	A	rs376126647		TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr12:38710737C>A	ENST00000308742.4	+	1	358	c.42C>A	c.(40-42)agC>agA	p.S14R	ALG10B_ENST00000551464.1_Missense_Mutation_p.S14R	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	14					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.S14R(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCGCCTTGAGCTGTACCTTTT	0.597											OREG0021733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12						C	ARG/SER	0,4406		0,0,2203	199	205	203		42	2.8	1	12		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALG10B	NM_001013620.3	110	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	14/474	38710737	1,13005	2203	4300	6503	36997004	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.42C>A	12.37:g.38710737C>A	ENSP00000310120:p.Ser14Arg	880	36997004	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	c	18.74	3.689126	0.68271	0.0	1.16E-4	ENSG00000175548	ENST00000308742;ENST00000551464	T;T	0.46451	1.48;0.87	3.64	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.56823	-0.7915	10	0.49607	T	0.09	.	7.3924	0.26917	0.0:0.8804:0.0:0.1196	.	14	Q5I7T1	AG10B_HUMAN	R	14	ENSP00000310120:S14R;ENSP00000448819:S14R	ENSP00000310120:S14R	S	+	3	2	ALG10B	36997004	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.775000	0.62346	1.092000	0.41356	0.655000	0.94253	AGC		0.597	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		A	38710737	C	A	38710737	3	1	194	1	0	0	0	0	1	0	0	0	512	796	28	3	44	3	ALG10B	12	38710737	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	19819128	38710737	95141158	33	11220											
OR10A7	121364	broad.mit.edu	37	12	55615709	55615709	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr12:55615709G>A	ENST00000326258.1	+	1	901	c.901G>A	c.(901-903)Gtc>Atc	p.V301I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V301I(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GAAAGGGGCTGTCAAGAGGAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	12											78	64	69					12																	55615709		2203	4299	6502	53901976	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.901G>A	12.37:g.55615709G>A	ENSP00000326718:p.Val301Ile		53901976	Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	g	10.39	1.338109	0.24253	.	.	ENSG00000179919	ENST00000326258	T	0.37752	1.18	3.45	1.53	0.23141	.	0.508702	0.14446	N	0.319100	T	0.15955	0.0384	N	0.10972	0.075	0.09310	N	1	B	0.14805	0.011	B	0.16289	0.015	T	0.13818	-1.0495	10	0.51188	T	0.08	.	1.6615	0.02792	0.1103:0.236:0.3349:0.3188	.	301	Q8NGE5	O10A7_HUMAN	I	301	ENSP00000326718:V301I	ENSP00000326718:V301I	V	+	1	0	OR10A7	53901976	0.000000	0.05858	0.037000	0.18230	0.107000	0.19398	-1.256000	0.02869	0.775000	0.33450	0.542000	0.68232	GTC		0.433	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			A	55615709	G	A	55615709	3	1	194	1	0	0	0	0	1	0	0	0	10895	1377	48	2	903	2	OR10A7	12	55615709	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08	16904972	55615709	78236186	34	11221											
GALNT4	8693	broad.mit.edu	37	12	89917956	89917956	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr12:89917956C>G	ENST00000529983.2	-	1	627	c.371G>C	c.(370-372)tGt>tCt	p.C124S	POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.C121S|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000541909.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	124					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CTGGGACTTACACTCATACAT	0.423											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			12											196	190	192					12																	89917956		1918	4131	6049	88442087	SO:0001583	missense	8693			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.371G>C	12.37:g.89917956C>G	ENSP00000436604:p.Cys124Ser	1271	88442087	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025207	0.75390	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.59638	0.25;0.25	5.62	5.62	0.85841	.	.	.	.	.	T	0.80914	0.4715	M	0.89658	3.05	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84578	0.0659	9	0.87932	D	0	.	16.8057	0.85626	0.0:1.0:0.0:0.0	.	121;124	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	S	121;124	ENSP00000447852:C121S;ENSP00000436604:C124S	ENSP00000436604:C124S	C	-	2	0	GALNT4;RP11-1109F11.4	88442087	1.000000	0.71417	0.969000	0.41365	0.985000	0.73830	7.725000	0.84808	2.645000	0.89757	0.655000	0.94253	TGT		0.423	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		G	89917956	C	G	89917956	3	3	194	1	0	0	0	0	1	0	0	0	6215	478	17	3	1369	3	GALNT4	12	89917956	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	34302247	89917956	43933939	35	11222											
ZFYVE26	23503	broad.mit.edu	37	14	68268819	68268819	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr14:68268819G>A	ENST00000347230.4	-	10	1754	c.1616C>T	c.(1615-1617)gCg>gTg	p.A539V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A539V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	539					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A539V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAGTCATTCGCTGGCTCTGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	14											141	129	133					14																	68268819		2203	4300	6503	67338572	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1616C>T	14.37:g.68268819G>A	ENSP00000251119:p.Ala539Val		67338572	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639717	0.29157	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28255	1.76;1.62	5.97	-8.7	0.00851	.	1.455720	0.03675	N	0.244581	T	0.19208	0.0461	L	0.40543	1.245	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.0	T	0.18681	-1.0329	10	0.40728	T	0.16	2.6915	3.6315	0.08133	0.4483:0.263:0.2031:0.0856	.	539;539;539	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	V	539;518;539	ENSP00000251119:A539V;ENSP00000450603:A539V	ENSP00000251119:A539V	A	-	2	0	ZFYVE26	67338572	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.510000	0.06328	-1.288000	0.02378	-0.880000	0.02959	GCG		0.532	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68268819	G	A	68268819	3	1	194	1	0	0	0	0	1	0	0	0	17668	1087	38	1	6135	1	ZFYVE26	14	68268819	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08		68268819	39080721	36	11223											
TTLL5	23093	broad.mit.edu	37	14	76211898	76211898	+	Silent	SNP	T	T	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr14:76211898T>A	ENST00000298832.9	+	17	1666	c.1461T>A	c.(1459-1461)ccT>ccA	p.P487P	TTLL5_ENST00000554510.1_5'UTR|TTLL5_ENST00000556893.1_Silent_p.P25P|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Silent_p.P501P	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	487					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.P487P(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCATATTTCCTACATCTGAGA	0.348																																																1	Substitution - coding silent(1)	ovary(1)	14											140	132	135					14																	76211898		2203	4300	6503	75281651	SO:0001819	synonymous_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1461T>A	14.37:g.76211898T>A			75281651	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	CCDS32124.1																																																																																				0.348	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		A	76211898	T	A	76211898	2	1	194	1	0	0	0	0	0	0	0	1	16730	1509	53	5		5	TTLL5	14	76211898	Silent	SNP	T	TCGA-23-2077-01A-01W-0722-08	7943079	76211898	31137642	37	11224											
PAQR5	54852	broad.mit.edu	37	15	69696080	69696080	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr15:69696080C>G	ENST00000340965.3	+	9	1580	c.912C>G	c.(910-912)atC>atG	p.I304M	RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA|PAQR5_ENST00000561153.1_Missense_Mutation_p.I304M|PAQR5_ENST00000395407.2_Missense_Mutation_p.I304M|Y_RNA_ENST00000384665.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	304					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)	p.I304M(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TGTGCATCATCTTCAGCCTCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	15											99	90	93					15																	69696080		2199	4298	6497	67483134	SO:0001583	missense	54852				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.912C>G	15.37:g.69696080C>G	ENSP00000343877:p.Ile304Met		67483134	Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478764	0.26511	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.24350	1.86;1.86	5.71	4.8	0.61643	.	0.751372	0.13520	N	0.381745	T	0.28532	0.0706	M	0.64997	1.995	0.32452	N	0.545323	B	0.18968	0.032	B	0.23150	0.044	T	0.24657	-1.0154	10	0.34782	T	0.22	-23.2169	10.9428	0.47283	0.0:0.9137:0.0:0.0863	.	304	Q9NXK6	MPRG_HUMAN	M	304	ENSP00000378803:I304M;ENSP00000343877:I304M	ENSP00000343877:I304M	I	+	3	3	PAQR5	67483134	0.996000	0.38824	0.990000	0.47175	0.629000	0.37895	1.528000	0.35985	1.431000	0.47355	-0.143000	0.13931	ATC		0.448	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		G	69696080	C	G	69696080	3	3	194	1	0	0	0	0	1	0	0	0	11438	903	32	3	938	3	PAQR5	15	69696080	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08		69696080	32835312	38	11225											
ESRP2	80004	broad.mit.edu	37	16	68265187	68265187	+	Missense_Mutation	SNP	C	C	G	rs568451834	byFrequency	TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr16:68265187C>G	ENST00000565858.1	-	12	1721	c.1635G>C	c.(1633-1635)gaG>gaC	p.E545D	ESRP2_ENST00000473183.2_Missense_Mutation_p.E535D|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	545	RRM 3.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E535D(1)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCACGTAGCGCTCCTTCATCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											98	73	81					16																	68265187		2198	4300	6498	66822688	SO:0001583	missense	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1635G>C	16.37:g.68265187C>G	ENSP00000454554:p.Glu545Asp		66822688	Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37		.	.	.	.	.	.	.	.	.	.	C	1.030	-0.682178	0.03353	.	.	ENSG00000103067	ENST00000473183	T	0.07688	3.17	5.79	-1.64	0.08318	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.048423	0.85682	D	0.000000	T	0.02455	0.0075	N	0.02830	-0.485	0.37847	D	0.929247	B;B	0.10296	0.003;0.003	B;B	0.20184	0.028;0.011	T	0.48031	-0.9070	10	0.07325	T	0.83	-12.7736	7.7498	0.28890	0.0:0.3461:0.3466:0.3073	.	545;535	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	D	535	ENSP00000418748:E535D	ENSP00000418748:E535D	E	-	3	2	ESRP2	66822688	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.030000	0.30153	-0.096000	0.12329	-1.264000	0.01445	GAG		0.622	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		G	68265187	C	G	68265187	3	3	194	1	0	0	0	0	1	0	0	0	5259	796	28	3	564	3	ESRP2	16	68265187	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08		68265187	22089566	39	11226											
PKD1L2	114780	broad.mit.edu	37	16	81190525	81190525	+	RNA	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr16:81190525C>T	ENST00000525539.1	-	0	4063				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.C1355Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAGACCACACACAGGCAGCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											64	66	65					16																	81190525		2175	4271	6446	79748026			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190525C>T			79748026	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37																																																																																					0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			T	81190525	C	T	81190525	1	4	194	0	1	0	0	0	0	0	0	0	11965	478	17	2		2	PKD1L2	16	81190525	RNA	SNP	C	TCGA-23-2077-01A-01W-0722-08	12925338	81190525	9164228	40	11227											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	194	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08		7578406	73616804	41	11228											
CD300E	342510	broad.mit.edu	37	17	72613409	72613409	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr17:72613409C>G	ENST00000328630.3	-	2	276	c.236G>C	c.(235-237)aGa>aCa	p.R79T	CD300E_ENST00000392619.1_Missense_Mutation_p.R106T|CD300E_ENST00000426295.2_Missense_Mutation_p.R120T			Q496F6	CLM2_HUMAN	CD300e molecule	79	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R79T(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CGGGTGGTCTCTGATGGACAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	17											243	166	192					17																	72613409		2203	4300	6503	70125004	SO:0001583	missense	342510			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	28874	protein-coding gene	gene with protein product		609801	"CD300 antigen like family member E", "CD300e antigen"	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.236G>C	17.37:g.72613409C>G	ENSP00000329942:p.Arg79Thr		70125004	B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107407	0.37145	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	4.89	2.87	0.33458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000098	T	0.08223	0.0205	L	0.52364	1.645	0.27218	N	0.95975	D	0.53619	0.961	P	0.58130	0.833	T	0.04991	-1.0913	10	0.56958	D	0.05	-16.9687	5.9519	0.19250	0.0:0.7012:0.1969:0.1019	.	79	Q496F6	CLM2_HUMAN	T	106;120;79;81	ENSP00000376395:R106T;ENSP00000416642:R120T;ENSP00000329942:R79T;ENSP00000415488:R81T	ENSP00000329942:R79T	R	-	2	0	CD300E	70125004	0.013000	0.17824	1.000000	0.80357	0.005000	0.04900	-0.312000	0.08113	1.354000	0.45846	-0.274000	0.10170	AGA		0.532	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		G	72613409	C	G	72613409	3	3	194	1	0	0	0	0	1	0	0	0	2998	913	32	3	393	3	CD300E	17	72613409	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	65035003	72613409	8581801	42	11229											
TSEN54	283989	broad.mit.edu	37	17	73519781	73519781	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr17:73519781G>C	ENST00000333213.6	+	10	1387	c.1351G>C	c.(1351-1353)Gat>Cat	p.D451H	LLGL2_ENST00000375227.4_5'Flank|LLGL2_ENST00000578363.1_5'Flank|LLGL2_ENST00000392550.3_5'Flank|LLGL2_ENST00000167462.5_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	451					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)		p.D451H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AATCATCTTTGATGTTTACCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											89	86	87					17																	73519781		2203	4300	6503	71031376	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1351G>C	17.37:g.73519781G>C	ENSP00000327487:p.Asp451His		71031376	Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064085	0.36373	.	.	ENSG00000182173	ENST00000333213	T	0.66995	-0.24	6.06	5.08	0.68730	.	0.128434	0.64402	D	0.000001	T	0.76593	0.4009	M	0.77313	2.365	0.43267	D	0.99521	D	0.55800	0.973	P	0.57468	0.821	T	0.78753	-0.2081	10	0.87932	D	0	-20.7019	10.1921	0.43032	0.1965:0.0:0.8035:0.0	.	451	Q7Z6J9	SEN54_HUMAN	H	451	ENSP00000327487:D451H	ENSP00000327487:D451H	D	+	1	0	TSEN54	71031376	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.385000	0.44371	2.879000	0.98667	0.650000	0.86243	GAT		0.498	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		C	73519781	G	C	73519781	3	2	194	1	0	0	0	0	1	0	0	0	16614	1290	45	3	1389	3	TSEN54	17	73519781	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08	906372	73519781	7675429	43	11230											
ZGLP1	100125288	broad.mit.edu	37	19	10415818	10415818	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr19:10415818C>G	ENST00000403903.3	-	4	1963	c.765G>C	c.(763-765)aaG>aaC	p.K255N	ZGLP1_ENST00000403352.1_Missense_Mutation_p.K171N	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	255					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K255N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						CACATAGCCTCTTGGGCTGGA	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											71	75	73					19																	10415818		2037	4191	6228	10276818	SO:0001583	missense	100125288			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"GATA zinc finger domain containing"	37245	protein-coding gene	gene with protein product	"GATA like protein 1", "GATA zinc finger domain containing 3"	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.765G>C	19.37:g.10415818C>G	ENSP00000384434:p.Lys255Asn		10276818		Missense_Mutation	SNP	ENST00000403903.3	37	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220244	0.39201	.	.	ENSG00000220201	ENST00000403903;ENST00000403352	D;D	0.98164	-4.76;-4.7	5.67	0.757	0.18427	.	.	.	.	.	D	0.92283	0.7552	N	0.14661	0.345	0.09310	N	1	B	0.26195	0.144	B	0.21546	0.035	D	0.86083	0.1545	9	0.33141	T	0.24	-7.7277	0.6604	0.00842	0.1771:0.3501:0.1527:0.3202	.	255	P0C6A0	ZGLP1_HUMAN	N	255;171	ENSP00000384434:K255N;ENSP00000385403:K171N	ENSP00000385403:K171N	K	-	3	2	ZGLP1	10276818	0.831000	0.29352	0.051000	0.19133	0.103000	0.19146	0.868000	0.27982	0.673000	0.31224	0.561000	0.74099	AAG		0.552	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		G	10415818	C	G	10415818	3	3	194	1	0	0	0	0	1	0	0	0	17673	912	32	3	54	3	ZGLP1	19	10415818	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08		10415818	48713165	44	11231											
MAN2B1	4125	broad.mit.edu	37	19	12774203	12774203	+	Silent	SNP	C	C	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr19:12774203C>A	ENST00000456935.2	-	6	877	c.837G>T	c.(835-837)gtG>gtT	p.V279V	MAN2B1_ENST00000221363.4_Silent_p.V279V	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	279					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V279V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGGGTCCTCCACCAGCGGCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	19											115	95	102					19																	12774203		2203	4300	6503	12635203	SO:0001819	synonymous_variant	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.837G>T	19.37:g.12774203C>A			12635203	G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	CCDS32919.1																																																																																				0.572	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			A	12774203	C	A	12774203	2	1	194	1	0	0	0	0	0	0	0	1	9216	581	21	3		3	MAN2B1	19	12774203	Silent	SNP	C	TCGA-23-2077-01A-01W-0722-08	2358385	12774203	46354780	45	11232											
MAST1	22983	broad.mit.edu	37	19	12979505	12979505	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr19:12979505A>G	ENST00000251472.4	+	21	2654	c.2615A>G	c.(2614-2616)gAt>gGt	p.D872G		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.D872G(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGGATGGGGATGCATCAGGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											113	108	110					19																	12979505		2203	4300	6503	12840505	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2615A>G	19.37:g.12979505A>G	ENSP00000251472:p.Asp872Gly		12840505		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346675	0.41599	.	.	ENSG00000105613	ENST00000251472	T	0.66460	-0.21	5.05	5.05	0.67936	.	0.257697	0.36234	N	0.002704	T	0.56934	0.2019	L	0.40543	1.245	0.43724	D	0.996203	P	0.35124	0.485	B	0.34489	0.184	T	0.57406	-0.7817	10	0.35671	T	0.21	-35.5376	12.7388	0.57239	1.0:0.0:0.0:0.0	.	872	Q9Y2H9	MAST1_HUMAN	G	872	ENSP00000251472:D872G	ENSP00000251472:D872G	D	+	2	0	MAST1	12840505	1.000000	0.71417	0.191000	0.23289	0.513000	0.34164	3.899000	0.56288	1.913000	0.55393	0.459000	0.35465	GAT		0.587	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		G	12979505	A	G	12979505	3	3	194	1	0	0	0	0	1	0	0	0	9324	333	12	4	2697	4	MAST1	19	12979505	Missense_Mutation	SNP	A	TCGA-23-2077-01A-01W-0722-08	205302	12979505	46149478	46	11233											
EMR3	84658	broad.mit.edu	37	19	14752392	14752392	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr19:14752392C>T	ENST00000253673.5	-	10	1187	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R	EMR3_ENST00000344373.4_Missense_Mutation_p.G311R|EMR3_ENST00000443157.2_Missense_Mutation_p.G237R|EMR3_ENST00000599900.1_Missense_Mutation_p.G148R	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	363					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G363R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACGCTCAGCCCCACGTAGGTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											80	66	71					19																	14752392		2203	4300	6503	14613392	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1087G>A	19.37:g.14752392C>T	ENSP00000253673:p.Gly363Arg		14613392		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717492	0.68844	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.67171	-0.25;-0.25;-0.25	3.68	3.68	0.42216	GPCR, family 2-like (1);	.	.	.	.	D	0.88104	0.6347	H	0.98276	4.19	0.32884	D	0.510943	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92567	0.6063	9	0.87932	D	0	.	12.9483	0.58386	0.0:1.0:0.0:0.0	.	237;311;363	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	R	237;363;311	ENSP00000396208:G237R;ENSP00000253673:G363R;ENSP00000340758:G311R	ENSP00000253673:G363R	G	-	1	0	EMR3	14613392	1.000000	0.71417	0.999000	0.59377	0.635000	0.38103	4.412000	0.59787	1.895000	0.54865	0.561000	0.74099	GGG		0.567	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		T	14752392	C	T	14752392	3	4	194	1	0	0	0	0	1	0	0	0	5106	623	22	2	899	2	EMR3	19	14752392	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	1772887	14752392	44376591	47	11234											
UNC13A	23025	broad.mit.edu	37	19	17785535	17785535	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr19:17785535A>T	ENST00000519716.2	-	3	82	c.83T>A	c.(82-84)gTg>gAg	p.V28E	UNC13A_ENST00000551649.1_Missense_Mutation_p.V28E|UNC13A_ENST00000252773.7_Missense_Mutation_p.V28E|UNC13A_ENST00000552293.1_Missense_Mutation_p.V28E|UNC13A_ENST00000550896.1_Missense_Mutation_p.V28E|UNC13A_ENST00000428389.2_Missense_Mutation_p.V116E	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	28	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.V116E(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GACATTCTGCACTTTCAGGGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											135	131	132					19																	17785535		2109	4252	6361	17646535	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.83T>A	19.37:g.17785535A>T	ENSP00000429562:p.Val28Glu		17646535	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514560	0.64522	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	4.93	4.93	0.64822	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000002	T	0.81673	0.4872	M	0.67953	2.075	0.50171	D	0.999854	D	0.89917	1.0	D	0.97110	1.0	D	0.83705	0.0184	10	0.87932	D	0	-16.5273	12.5081	0.55991	1.0:0.0:0.0:0.0	.	28	Q9UPW8	UN13A_HUMAN	E	28;116;28;28;28;28	ENSP00000429562:V28E;ENSP00000400409:V116E;ENSP00000252773:V28E;ENSP00000447236:V28E;ENSP00000447572:V28E;ENSP00000446831:V28E	ENSP00000252773:V28E	V	-	2	0	UNC13A	17646535	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	9.156000	0.94705	1.854000	0.53819	0.260000	0.18958	GTG		0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		T	17785535	A	T	17785535	3	4	194	1	0	0	0	0	1	0	0	0	16984	159	6	5	5188	5	UNC13A	19	17785535	Missense_Mutation	SNP	A	TCGA-23-2077-01A-01W-0722-08	3033143	17785535	41343448	48	11235											
DYRK1B	9149	broad.mit.edu	37	19	40321171	40321171	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr19:40321171C>G	ENST00000593685.1	-	4	684	c.216G>C	c.(214-216)caG>caC	p.Q72H	DYRK1B_ENST00000601972.1_Missense_Mutation_p.Q72H|DYRK1B_ENST00000430012.2_Missense_Mutation_p.Q72H|DYRK1B_ENST00000348817.3_Missense_Mutation_p.Q72H|DYRK1B_ENST00000597639.1_Missense_Mutation_p.Q72H|DYRK1B_ENST00000323039.5_Missense_Mutation_p.Q72H			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	72					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.Q72H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GTGGCGCCTGCTGGGCCCGCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											79	67	71					19																	40321171		2203	4300	6503	45013011	SO:0001583	missense	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.216G>C	19.37:g.40321171C>G	ENSP00000469863:p.Gln72His		45013011	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913121	0.72983	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.58797	0.31;0.36;0.34	4.44	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.82630	2.6	0.58432	D	0.999997	D;B;D;D	0.54397	0.966;0.037;0.966;0.964	P;B;P;P	0.58873	0.497;0.06;0.497;0.847	T	0.69154	-0.5220	10	0.62326	D	0.03	.	7.9729	0.30138	0.0:0.799:0.0:0.201	.	72;72;72;72	B3KQI0;Q9Y463-2;Q9Y463;Q9Y463-3	.;.;DYR1B_HUMAN;.	H	72	ENSP00000312789:Q72H;ENSP00000221803:Q72H;ENSP00000403182:Q72H	ENSP00000312789:Q72H	Q	-	3	2	DYRK1B	45013011	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.421000	0.21280	0.312000	0.23038	0.563000	0.77884	CAG		0.587	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		G	40321171	C	G	40321171	3	3	194	1	0	0	0	0	1	0	0	0	4855	796	28	3	1705	3	DYRK1B	19	40321171	Missense_Mutation	SNP	C	TCGA-23-2077-01A-01W-0722-08	22535636	40321171	18807812	49	11236											
DNMT3B	1789	broad.mit.edu	37	20	31390200	31390200	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr20:31390200G>T	ENST00000328111.2	+	20	2476	c.2155G>T	c.(2155-2157)Gtg>Ttg	p.V719L	DNMT3B_ENST00000443239.3_Missense_Mutation_p.V657L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V699L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V623L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V699L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V711L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V699L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	719	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.V719L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTAATCCAGTGATGATTGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	20											183	172	175					20																	31390200		2203	4300	6503	30853861	SO:0001583	missense	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2155G>T	20.37:g.31390200G>T	ENSP00000328547:p.Val719Leu		30853861	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662965	0.88251	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;T;D	0.96365	-3.9;-3.9;-3.99;-3.99;-3.99;1.01;-3.9	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98068	0.9363	M	0.81497	2.545	0.80722	D	1	P;D;P;B;P;B;D	0.56287	0.774;0.975;0.93;0.281;0.733;0.281;0.961	P;P;P;B;P;B;D	0.67231	0.627;0.836;0.734;0.323;0.493;0.323;0.95	D	0.98304	1.0520	10	0.62326	D	0.03	-29.1751	19.0954	0.93248	0.0:0.0:1.0:0.0	.	623;657;418;711;699;699;719	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	L	719;699;699;657;623;699;711	ENSP00000328547:V719L;ENSP00000313397:V699L;ENSP00000337764:V699L;ENSP00000403169:V657L;ENSP00000412305:V623L;ENSP00000345105:V699L;ENSP00000201963:V711L	ENSP00000201963:V711L	V	+	1	0	DNMT3B	30853861	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.823000	0.97156	0.650000	0.86243	GTG		0.493	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		T	31390200	G	T	31390200	3	4	194	1	0	0	0	0	1	0	0	0	4677	1029	36	3	2269	3	DNMT3B	20	31390200	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08		31390200	31635320	50	11237											
C20orf185	359710	broad.mit.edu	37	20	31644409	31644409	+	Silent	SNP	T	T	C			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr20:31644409T>C	ENST00000375494.3	+	2	186	c.186T>C	c.(184-186)gcT>gcC	p.A62A	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	62	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A62A(1)									CGGTCACAGCTGTGAACCGGG	0.597																																																1	Substitution - coding silent(1)	ovary(1)	20											94	95	94					20																	31644409		2203	4300	6503	31108070	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.186T>C	20.37:g.31644409T>C			31108070	Q5TDX7	Silent	SNP	ENST00000375494.3	37	CCDS13212.1																																																																																				0.597	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		C	31644409	T	C	31644409	2	2	194	1	0	0	0	0	0	0	0	1	2097	1567	55	4		4	C20orf185	20	31644409	Silent	SNP	T	TCGA-23-2077-01A-01W-0722-08	254209	31644409	31381111	51	11238											
ELMO2	63916	broad.mit.edu	37	20	45004386	45004386	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr20:45004386T>A	ENST00000290246.6	-	12	1045	c.851A>T	c.(850-852)cAt>cTt	p.H284L	ELMO2_ENST00000445496.2_Missense_Mutation_p.H101L|ELMO2_ENST00000352077.2_Missense_Mutation_p.H282L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000454865.2_Missense_Mutation_p.H16L|ELMO2_ENST00000372176.1_Missense_Mutation_p.H196L|ELMO2_ENST00000396391.1_Missense_Mutation_p.H284L|ELMO2_ENST00000439931.2_Missense_Mutation_p.H296L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	284					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)	p.H284L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATATAGCTGATGGGCCATCTC	0.502																																																1	Substitution - Missense(1)	ovary(1)	20											128	113	118					20																	45004386		2203	4300	6503	44437793	SO:0001583	missense	63916			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.851A>T	20.37:g.45004386T>A	ENSP00000290246:p.His284Leu		44437793	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942732	0.92526	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T;T	0.38077	2.24;1.98;2.24;1.67;1.6;1.29;2.23;1.16;1.18	4.99	4.99	0.66335	Terpene synthase-like (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.978;0.999;0.991;0.98;0.986	T	0.69172	-0.5215	10	0.87932	D	0	-17.0858	14.0317	0.64619	0.0:0.0:0.0:1.0	.	296;16;284;101;284	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	L	284;196;284;296;101;16;282;72;284	ENSP00000290246:H284L;ENSP00000361249:H196L;ENSP00000379673:H284L;ENSP00000396519:H296L;ENSP00000409920:H101L;ENSP00000415641:H16L;ENSP00000326172:H282L;ENSP00000388962:H72L;ENSP00000416181:H284L	ENSP00000290246:H284L	H	-	2	0	ELMO2	44437793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.868000	0.87116	2.096000	0.63516	0.454000	0.30748	CAT		0.502	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		A	45004386	T	A	45004386	3	1	194	1	0	0	0	0	1	0	0	0	5066	1464	51	5	1355	5	ELMO2	20	45004386	Missense_Mutation	SNP	T	TCGA-23-2077-01A-01W-0722-08	13359977	45004386	18021134	52	11239											
CTCFL	140690	broad.mit.edu	37	20	56099088	56099088	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chr20:56099088G>T	ENST00000608263.1	-	1	835	c.174C>A	c.(172-174)gaC>gaA	p.D58E	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608425.1_Missense_Mutation_p.D58E|CTCFL_ENST00000432255.2_Missense_Mutation_p.D58E|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Missense_Mutation_p.D58E|CTCFL_ENST00000429804.3_Missense_Mutation_p.D58E|CTCFL_ENST00000422869.2_Missense_Mutation_p.D58E|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000371196.2_Missense_Mutation_p.D58E|CTCFL_ENST00000481655.2_Missense_Mutation_p.D58E|CTCFL_ENST00000243914.3_Missense_Mutation_p.D58E|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000609232.1_Missense_Mutation_p.D58E|CTCFL_ENST00000608440.1_Missense_Mutation_p.D58E|CTCFL_ENST00000423479.3_Missense_Mutation_p.D58E	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	58					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.D58E(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCAGGACGCTGTCCTGGAAGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	20											129	140	136					20																	56099088		2203	4300	6503	55532494	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.174C>A	20.37:g.56099088G>T	ENSP00000476783:p.Asp58Glu		55532494	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.667953	0.29604	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.09350	2.99;3.02;3.02;3.2;3.05;3.38;3.05;3.68;3.05	4.45	2.46	0.29980	.	1.429750	0.04724	N	0.419981	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	B;B;B;P;B;B;B;B	0.38565	0.072;0.0;0.033;0.637;0.033;0.033;0.118;0.118	B;B;B;B;B;B;B;B	0.30495	0.021;0.0;0.019;0.116;0.013;0.019;0.021;0.021	T	0.20538	-1.0272	10	0.02654	T	1	-1.0719	6.1325	0.20213	0.1057:0.1905:0.7037:0.0	.	58;58;58;58;58;58;58;58	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	E	58	ENSP00000415579:D58E;ENSP00000243914:D58E;ENSP00000360239:D58E;ENSP00000415329:D58E;ENSP00000392034:D58E;ENSP00000413713:D58E;ENSP00000403369:D58E;ENSP00000409344:D58E;ENSP00000399061:D58E	ENSP00000243914:D58E	D	-	3	2	CTCFL	55532494	0.030000	0.19436	0.000000	0.03702	0.003000	0.03518	1.513000	0.35823	0.314000	0.23086	-0.199000	0.12753	GAC		0.592	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		T	56099088	G	T	56099088	3	4	194	1	0	0	0	0	1	0	0	0	4001	1368	48	3	1857	3	CTCFL	20	56099088	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08	11094702	56099088	6926432	53	11240											
THOC2	57187	broad.mit.edu	37	X	122759896	122759896	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01A-01W-0722-08	TCGA-23-2077-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	96c45d8c-a348-473a-b9df-c57a92e7bae4	21ca21ab-d092-4af8-a589-1a0e9467c90b	g.chrX:122759896G>C	ENST00000245838.8	-	25	2955	c.2924C>G	c.(2923-2925)aCa>aGa	p.T975R	THOC2_ENST00000491737.1_Missense_Mutation_p.T860R|THOC2_ENST00000355725.4_Missense_Mutation_p.T975R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	975					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.T896R(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TAGAAATTTTGTGATGGTCTC	0.338																																																1	Substitution - Missense(1)	ovary(1)	X											73	62	65					X																	122759896		1800	4067	5867	122587577	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2924C>G	X.37:g.122759896G>C	ENSP00000245838:p.Thr975Arg		122587577	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.880754|3.880754	0.72294|0.72294	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000438358|ENST00000245838;ENST00000355725;ENST00000491737	.|T;T;T	.|0.24350	.|1.86;1.86;1.86	5.83|5.83	4.96|4.96	0.65561|0.65561	.|THO complex, subunitTHOC2, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.51126|0.51126	0.1656|0.1656	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.72982	.|0.979	T|T	0.52124|0.52124	-0.8617|-0.8617	5|10	.|0.42905	.|T	.|0.14	-15.7862|-15.7862	16.0817|16.0817	0.81010|0.81010	0.0:0.1303:0.8696:0.0|0.0:0.1303:0.8696:0.0	.|.	.|975	.|Q8NI27	.|THOC2_HUMAN	Q|R	47|975;975;860	.|ENSP00000245838:T975R;ENSP00000347959:T975R;ENSP00000419795:T860R	.|ENSP00000245838:T975R	H|T	-|-	3|2	2|0	THOC2|THOC2	122587577|122587577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.810000|9.810000	0.99221|0.99221	1.207000|1.207000	0.43291|0.43291	0.600000|0.600000	0.82982|0.82982	CAC|ACA		0.338	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			C	122759896	G	C	122759896	3	2	194	1	0	0	0	0	1	0	0	0	15865	1377	48	3	1913	3	THOC2	23	122759896	Missense_Mutation	SNP	G	TCGA-23-2077-01A-01W-0722-08		122759896	32510664	54	11241											
PTCHD2	57540	broad.mit.edu	37	1	11561401	11561401	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr1:11561401C>T	ENST00000294484.6	+	2	490	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R118C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	118					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.R335C(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCTCACAGCGTTTCGACGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											65	65	65					1																	11561401		2104	4217	6321	11483988	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.352C>T	1.37:g.11561401C>T	ENSP00000294484:p.Arg118Cys		11483988	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266555	0.80358	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.25912	1.77;1.77	5.8	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.19712	-1.0297	10	0.87932	D	0	-5.7102	14.7923	0.69851	0.1446:0.8554:0.0:0.0	.	118	Q9P2K9	PTHD2_HUMAN	C	118	ENSP00000294484:R118C;ENSP00000374226:R118C	ENSP00000294484:R118C	R	+	1	0	PTCHD2	11483988	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.348000	0.59379	2.735000	0.93741	0.655000	0.94253	CGT		0.592	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11561401	C	T	11561401	3	4	195	1	0	0	0	0	1	0	0	0	12736	768	27	1	354	1	PTCHD2	1	11561401	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08		11561401	237689220	1	11242											
CRTC2	200186	broad.mit.edu	37	1	153921792	153921792	+	Silent	SNP	T	T	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr1:153921792T>A	ENST00000368633.1	-	12	1600	c.1473A>T	c.(1471-1473)ccA>ccT	p.P491P	CRTC2_ENST00000368630.3_Silent_p.P171P|DENND4B_ENST00000361217.4_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	491					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.P491P(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAACCAGACTTGGGGAGCTGT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	1											57	60	59					1																	153921792		2203	4300	6503	152188416	SO:0001819	synonymous_variant	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1473A>T	1.37:g.153921792T>A			152188416	Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	CCDS30875.1																																																																																				0.572	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		A	153921792	T	A	153921792	2	1	195	1	0	0	0	0	0	0	0	1	3900	1799	63	5		5	CRTC2	1	153921792	Silent	SNP	T	TCGA-23-2078-01A-01W-0722-08	142360391	153921792	95328829	2	11243											
C1orf9	51430	broad.mit.edu	37	1	172520743	172520743	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr1:172520743G>A	ENST00000263688.3	+	2	373	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	SUCO_ENST00000608151.1_Missense_Mutation_p.E248K|SUCO_ENST00000367723.4_Missense_Mutation_p.E247K|SUCO_ENST00000610051.1_Missense_Mutation_p.E52K	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	52					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.E52K(1)									ACTAGAAAATGAAGATGTACA	0.368																																																1	Substitution - Missense(1)	ovary(1)	1											85	83	84					1																	172520743		2203	4300	6503	170787366	SO:0001583	missense	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.154G>A	1.37:g.172520743G>A	ENSP00000263688:p.Glu52Lys		170787366	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775901	0.49786	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.69	3.8	0.43715	.	0.173923	0.40554	N	0.001076	T	0.34106	0.0886	L	0.32530	0.975	0.39238	D	0.963805	B;D;P;P	0.53885	0.001;0.963;0.953;0.9	B;P;P;P	0.50825	0.002;0.651;0.551;0.493	T	0.30149	-0.9988	9	0.66056	D	0.02	-7.2602	7.9261	0.29876	0.0859:0.1611:0.753:0.0	.	52;52;248;52	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	K	248;52	.	ENSP00000263688:E52K	E	+	1	0	C1orf9	170787366	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	4.340000	0.59328	0.737000	0.32582	-0.237000	0.12165	GAA		0.368	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		A	172520743	G	A	172520743	3	1	195	1	0	0	0	0	1	0	0	0	2067	1291	45	2	160	2	C1orf9	1	172520743	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	18598951	172520743	76729878	3	11244											
TNR	7143	broad.mit.edu	37	1	175375513	175375513	+	Missense_Mutation	SNP	G	G	C	rs140600179	byFrequency	TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr1:175375513G>C	ENST00000367674.2	-	3	1046	c.338C>G	c.(337-339)aCc>aGc	p.T113S	TNR_ENST00000263525.2_Missense_Mutation_p.T113S			Q92752	TENR_HUMAN	tenascin R	113					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.T113S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGTGTAAAGGTGACCTGGCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											214	176	188					1																	175375513		2203	4300	6503	173642136	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.338C>G	1.37:g.175375513G>C	ENSP00000356646:p.Thr113Ser		173642136	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333290	0.81801	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.30714	1.52;1.52	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	L	0.58101	1.795	0.51482	D	0.999923	D;D	0.76494	0.997;0.999	D;D	0.78314	0.97;0.991	T	0.55341	-0.8156	10	0.66056	D	0.02	.	18.4464	0.90685	0.0:0.0:1.0:0.0	.	113;113	B4DIX8;Q92752	.;TENR_HUMAN	S	113	ENSP00000356646:T113S;ENSP00000263525:T113S	ENSP00000263525:T113S	T	-	2	0	TNR	173642136	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.930000	0.87610	2.445000	0.82738	0.561000	0.74099	ACC		0.587	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		C	175375513	G	C	175375513	3	2	195	1	0	0	0	0	1	0	0	0	16338	1261	44	3	3822	3	TNR	1	175375513	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	2854770	175375513	73875108	4	11245											
TNR	7143	broad.mit.edu	37	1	175375818	175375818	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr1:175375818C>A	ENST00000367674.2	-	3	741	c.33G>T	c.(31-33)aaG>aaT	p.K11N	TNR_ENST00000263525.2_Missense_Mutation_p.K11N			Q92752	TENR_HUMAN	tenascin R	11					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.K11N(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGAGCATGTTCTTCAGAACCA	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											153	138	143					1																	175375818		2203	4300	6503	173642441	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.33G>T	1.37:g.175375818C>A	ENSP00000356646:p.Lys11Asn		173642441	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420397	0.42918	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.27256	1.68;1.68	5.56	4.65	0.58169	.	0.451738	0.24172	N	0.040883	T	0.17916	0.0430	L	0.34521	1.04	0.26972	N	0.965578	P;P	0.47106	0.89;0.651	B;B	0.38378	0.272;0.15	T	0.11743	-1.0575	10	0.62326	D	0.03	.	9.0317	0.36262	0.0:0.7739:0.0:0.2261	.	11;11	B4DIX8;Q92752	.;TENR_HUMAN	N	11	ENSP00000356646:K11N;ENSP00000263525:K11N	ENSP00000263525:K11N	K	-	3	2	TNR	173642441	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	0.371000	0.20450	1.348000	0.45733	-0.258000	0.10820	AAG		0.542	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175375818	C	A	175375818	3	1	195	1	0	0	0	0	1	0	0	0	16338	912	32	3	4127	3	TNR	1	175375818	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	305	175375818	73874803	5	11246											
CRB1	23418	broad.mit.edu	37	1	197396584	197396584	+	Splice_Site	SNP	A	A	G	rs145282040		TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr1:197396584A>G	ENST00000367400.3	+	7	2264	c.2129A>G	c.(2128-2130)gAg>gGg	p.E710G	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Splice_Site_p.E598G|CRB1_ENST00000367397.1_Splice_Site_p.E91G|CRB1_ENST00000535699.1_Splice_Site_p.E641G|CRB1_ENST00000544212.1_Splice_Site_p.E191G	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	710			E -> Q (in LCA8). {ECO:0000269|PubMed:15024725}.|E -> V (in RP12). {ECO:0000269|PubMed:20591486, ECO:0000269|PubMed:20956273}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E710G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GACATTGAAGAGTATGTGGCA	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											59	55	57					1																	197396584		2203	4300	6503	195663207	SO:0001630	splice_region_variant	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2129-1A>G	1.37:g.197396584A>G			195663207	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459088	0.43634	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.75	3.37	0.38596	Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	D	0.88829	0.6543	M	0.84511	2.7	0.58432	D	0.999999	P;B;D;B	0.89917	0.547;0.285;1.0;0.412	B;B;D;B	0.97110	0.162;0.275;1.0;0.078	D	0.87170	0.2220	8	.	.	.	.	9.1357	0.36872	0.7467:0.1298:0.0:0.1235	.	641;598;359;710	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	G	641;710;598;191;91;359	ENSP00000438786:E641G;ENSP00000356370:E710G;ENSP00000356369:E598G;ENSP00000444556:E191G;ENSP00000356367:E91G	.	E	+	2	0	CRB1	195663207	1.000000	0.71417	0.300000	0.25030	0.033000	0.12548	5.546000	0.67243	0.404000	0.25506	0.528000	0.53228	GAG		0.413	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	Missense_Mutation	G	197396584	A	G	197396584	5	3	195	1	0	0	0	0	0	0	1	0	3848	318	11	4	2155	4	CRB1	1	197396584	Splice_Site	SNP	A	TCGA-23-2078-01A-01W-0722-08	22020766	197396584	51854037	6	11247											
KISS1	3814	broad.mit.edu	37	1	204161957	204161957	+	Silent	SNP	G	G	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr1:204161957G>T	ENST00000367194.4	-	2	196	c.48C>A	c.(46-48)acC>acA	p.T16T		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	16					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.T16T(1)		large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CCCCAAAGTGGGTGGCACAGA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	1											32	32	32					1																	204161957		1867	4109	5976	202428580	SO:0001819	synonymous_variant	3814			U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"Endogenous ligands"	6341	protein-coding gene	gene with protein product	"prepro-kisspeptin", "kisspeptin"	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.48C>A	1.37:g.204161957G>T			202428580	A8K6N0|Q9HBP1	Silent	SNP	ENST00000367194.4	37	CCDS41454.1																																																																																				0.532	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		T	204161957	G	T	204161957	2	4	195	1	0	0	0	0	0	0	0	1	8327	1219	43	3		3	KISS1	1	204161957	Silent	SNP	G	TCGA-23-2078-01A-01W-0722-08	6765373	204161957	45088664	7	11248											
SYT14	255928	broad.mit.edu	37	1	210194567	210194567	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr1:210194567A>T	ENST00000472886.1	+	4	424	c.410A>T	c.(409-411)gAt>gTt	p.D137V	SYT14_ENST00000367019.1_Missense_Mutation_p.D137V|SYT14_ENST00000399639.2_Missense_Mutation_p.D137V|SYT14_ENST00000534859.1_Missense_Mutation_p.D137V|SYT14_ENST00000367015.1_Missense_Mutation_p.D99V|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Missense_Mutation_p.D99V|SYT14_ENST00000422431.1_Missense_Mutation_p.D182V			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	137					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.D137V(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GCAGAGTATGATGGATACAGT	0.388																																																1	Substitution - Missense(1)	ovary(1)	1											117	106	110					1																	210194567		2203	4300	6503	208261190	SO:0001583	missense	255928			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.410A>T	1.37:g.210194567A>T	ENSP00000418901:p.Asp137Val		208261190	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.368445	0.82463	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.19938	3.22;3.09;2.11;3.36;3.09;3.35;3.36	5.15	5.15	0.70609	.	0.051803	0.64402	D	0.000001	T	0.35480	0.0933	L	0.54323	1.7	0.80722	D	1	D;P;D;P	0.61080	0.974;0.627;0.989;0.914	P;B;P;P	0.55391	0.497;0.139;0.775;0.475	T	0.08146	-1.0736	10	0.56958	D	0.05	-14.1983	15.2559	0.73585	1.0:0.0:0.0:0.0	.	165;137;137;182	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	V	182;137;137;99;137;137;99	ENSP00000389039:D182V;ENSP00000442891:D137V;ENSP00000445837:D137V;ENSP00000437423:D99V;ENSP00000355986:D137V;ENSP00000418901:D137V;ENSP00000355982:D99V	ENSP00000355982:D99V	D	+	2	0	SYT14	208261190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.626000	0.83164	2.078000	0.62432	0.528000	0.53228	GAT		0.388	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		T	210194567	A	T	210194567	3	4	195	1	0	0	0	0	1	0	0	0	15470	333	12	5	563	5	SYT14	1	210194567	Missense_Mutation	SNP	A	TCGA-23-2078-01A-01W-0722-08	6032610	210194567	39056054	8	11249											
CNIH4	29097	broad.mit.edu	37	1	224559009	224559009	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr1:224559009C>A	ENST00000465271.1	+	4	351	c.276C>A	c.(274-276)aaC>aaA	p.N92K	CNIH4_ENST00000366858.3_Intron|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366856.3_Missense_Mutation_p.N92K|CNIH4_ENST00000366857.5_Intron	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	92					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.N92K(1)		kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		CGAGTGGTAACATGGGAGTGT	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											189	171	177					1																	224559009		2203	4300	6503	222625632	SO:0001583	missense	29097				CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"cornichon homolog 4 (Drosophila)"			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.276C>A	1.37:g.224559009C>A	ENSP00000420443:p.Asn92Lys		222625632	A8K1Q8|B2R553|Q9H0X8	Missense_Mutation	SNP	ENST00000465271.1	37	CCDS1543.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226837	0.79576	.	.	ENSG00000143771	ENST00000465271;ENST00000366856	T;T	0.41400	1.04;1.0	5.43	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.54543	-0.8278	10	0.30854	T	0.27	-0.2236	15.098	0.72250	0.0:0.9281:0.0:0.0719	.	92	Q9P003	CNIH4_HUMAN	K	92	ENSP00000420443:N92K;ENSP00000355821:N92K	ENSP00000355821:N92K	N	+	3	2	CNIH4	222625632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.555000	0.45854	2.692000	0.91855	0.655000	0.94253	AAC		0.383	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091754.1	NM_014184		A	224559009	C	A	224559009	3	1	195	1	0	0	0	0	1	0	0	0	3605	477	17	3	290	3	CNIH4	1	224559009	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	14364442	224559009	24691612	9	11250											
NRXN1	9378	broad.mit.edu	37	2	50699576	50699576	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr2:50699576G>A	ENST00000406316.2	-	16	4580	c.3104C>T	c.(3103-3105)aCa>aTa	p.T1035I	NRXN1_ENST00000405472.3_Missense_Mutation_p.T1027I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.T44I|NRXN1_ENST00000401669.2_Missense_Mutation_p.T1035I|NRXN1_ENST00000402717.3_Missense_Mutation_p.T1027I|NRXN1_ENST00000406859.3_Missense_Mutation_p.T1035I|NRXN1_ENST00000404971.1_Missense_Mutation_p.T1075I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1035	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.T1035I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGATTTGTATGTTTCTTTAGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											100	96	97					2																	50699576		1863	4097	5960	50553080	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3104C>T	2.37:g.50699576G>A	ENSP00000384311:p.Thr1035Ile		50553080	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656967	0.47467	.	.	ENSG00000179915	ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.42	4.31	0.51392	.	0.044361	0.85682	D	0.000000	T	0.59018	0.2163	N	0.16903	0.455	0.23271	N	0.99801	B;P;B	0.34546	0.004;0.456;0.066	B;B;B	0.32928	0.014;0.115;0.155	T	0.55335	-0.8157	10	0.56958	D	0.05	.	6.8891	0.24220	0.2455:0.0:0.7545:0.0	.	1075;1035;1027	Q9ULB1-3;F8WB18;A7E294	.;.;.	I	44;1075;1035;1027;1035;1076;1027;1035	ENSP00000385580:T44I;ENSP00000385142:T1075I;ENSP00000384311:T1035I;ENSP00000434015:T1027I;ENSP00000385017:T1035I;ENSP00000385434:T1027I;ENSP00000385681:T1035I	ENSP00000385017:T1035I	T	-	2	0	NRXN1	50553080	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	4.448000	0.60027	2.691000	0.91804	0.655000	0.94253	ACA		0.403	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50699576	G	A	50699576	3	1	195	1	0	0	0	0	1	0	0	0	10665	1377	48	2	1714	2	NRXN1	2	50699576	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08		50699576	192499797	10	11251											
RTN4	57142	broad.mit.edu	37	2	55252692	55252692	+	Missense_Mutation	SNP	G	G	C	rs144867063	byFrequency	TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr2:55252692G>C	ENST00000337526.6	-	3	2786	c.2543C>G	c.(2542-2544)tCt>tGt	p.S848C	RTN4_ENST00000405240.1_Missense_Mutation_p.S642C|RTN4_ENST00000404909.1_Missense_Mutation_p.S642C|RTN4_ENST00000354474.6_Missense_Mutation_p.S616C|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.S642C|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S642C|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	848					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.S642C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGCTTCCTTAGAAATAAATAA	0.338													G|||	7	0.00139776	0.0053	0	5008	,	,		19160	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2						G	CYS/SER,,,CYS/SER	21,4383	25.3+/-52.1	1,19,2182	46	48	47		2543,,,1925	4.6	0.8	2	dbSNP_134	47	0,8596		0,0,4298	yes	missense,intron,intron,missense	RTN4	NM_020532.4,NM_153828.2,NM_207520.1,NM_207521.1	112,,,112	1,19,6480	CC,CG,GG		0.0,0.4768,0.1615	probably-damaging,,,probably-damaging	848/1193,,,642/987	55252692	21,12979	2202	4298	6500	55106196	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2543C>G	2.37:g.55252692G>C	ENSP00000337838:p.Ser848Cys		55106196	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.51	3.143857	0.57044	0.004768	0.0	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.93	5.45	4.56	0.56223	.	1.697110	0.02987	N	0.146379	T	0.42832	0.1220	L	0.43152	1.355	0.29850	N	0.828543	D	0.62365	0.991	P	0.52710	0.707	T	0.49173	-0.8967	10	0.72032	D	0.01	-2.5692	16.1142	0.81289	0.0:0.1341:0.8659:0.0	.	848	Q9NQC3	RTN4_HUMAN	C	642;642;848;642;642;616	ENSP00000384471:S642C;ENSP00000349944:S642C;ENSP00000337838:S848C;ENSP00000378109:S642C;ENSP00000385650:S642C;ENSP00000346465:S616C	ENSP00000337838:S848C	S	-	2	0	RTN4	55106196	1.000000	0.71417	0.842000	0.33263	0.611000	0.37282	3.149000	0.50655	1.235000	0.43724	0.655000	0.94253	TCT		0.338	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			C	55252692	G	C	55252692	3	2	195	1	0	0	0	0	1	0	0	0	13731	942	33	3	1101	3	RTN4	2	55252692	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	4553116	55252692	187946681	11	11252											
ERMN	57471	broad.mit.edu	37	2	158178234	158178234	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr2:158178234G>A	ENST00000410096.1	-	3	695	c.404C>T	c.(403-405)aCt>aTt	p.T135I	ERMN_ENST00000535935.1_Missense_Mutation_p.T29I|ERMN_ENST00000397283.2_Missense_Mutation_p.T148I|ERMN_ENST00000420719.2_Missense_Mutation_p.T115I|ERMN_ENST00000409216.1_3'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	135					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)		p.T148I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AGGCTGCTCAGTAATCCTCTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	2											103	98	100					2																	158178234		1909	4126	6035	157886480	SO:0001583	missense	57471			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"juxtanodin", "ermin"	610072	"KIAA1189"	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.404C>T	2.37:g.158178234G>A	ENSP00000387047:p.Thr135Ile		157886480	B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.524586	0.00959	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719;ENST00000420317;ENST00000411762	.	.	.	5.77	-0.835	0.10775	.	1.619920	0.03004	N	0.148536	T	0.20170	0.0485	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.002;0.007;0.002	B;B;B	0.06405	0.001;0.002;0.002	T	0.25813	-1.0121	9	0.54805	T	0.06	-0.3165	5.753	0.18158	0.3044:0.2715:0.424:0.0	.	115;148;135	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	I	135;148;29;115;135;135	.	ENSP00000380453:T148I	T	-	2	0	ERMN	157886480	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.529000	0.06186	0.014000	0.14944	-0.305000	0.09177	ACT		0.458	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		A	158178234	G	A	158178234	3	1	195	1	0	0	0	0	1	0	0	0	5235	1029	36	2	454	2	ERMN	2	158178234	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	102925542	158178234	85021139	12	11253											
GAD1	2571	broad.mit.edu	37	2	171687500	171687500	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr2:171687500A>T	ENST00000358196.3	+	5	895	c.345A>T	c.(343-345)caA>caT	p.Q115H	GAD1_ENST00000344257.5_Missense_Mutation_p.Q115H|GAD1_ENST00000375272.1_Missense_Mutation_p.Q115H|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	115					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.Q115H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AAACCGTGCAATTCCTCCTGG	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											94	82	86					2																	171687500		2203	4300	6503	171395746	SO:0001583	missense	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.345A>T	2.37:g.171687500A>T	ENSP00000350928:p.Gln115His		171395746	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270044	0.40194	.	.	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;D;T	0.83591	1.13;1.13;1.13;-1.74;-1.22	5.9	3.07	0.35406	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	L	0.49350	1.555	0.80722	D	1	B;B	0.27910	0.003;0.193	B;B	0.15484	0.001;0.013	T	0.68812	-0.5310	10	0.42905	T	0.14	-15.6551	10.6492	0.45638	0.2467:0.0:0.7533:0.0	.	115;115	Q99259;Q99259-3	DCE1_HUMAN;.	H	115	ENSP00000350928:Q115H;ENSP00000364421:Q115H;ENSP00000341167:Q115H;ENSP00000405917:Q115H;ENSP00000394255:Q115H	ENSP00000341167:Q115H	Q	+	3	2	GAD1	171395746	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	2.714000	0.47202	0.406000	0.25560	-0.187000	0.12897	CAA		0.498	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			T	171687500	A	T	171687500	3	4	195	1	0	0	0	0	1	0	0	0	6179	98	4	5	359	5	GAD1	2	171687500	Missense_Mutation	SNP	A	TCGA-23-2078-01A-01W-0722-08	13509266	171687500	71511873	13	11254											
BOK	666	broad.mit.edu	37	2	242501817	242501817	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr2:242501817T>C	ENST00000318407.3	+	3	577	c.275T>C	c.(274-276)cTg>cCg	p.L92P		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	92					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell proliferation (GO:0008283)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|neuron apoptotic process (GO:0051402)|oligodendrocyte differentiation (GO:0048709)|positive regulation of apoptotic process (GO:0043065)|positive regulation of execution phase of apoptosis (GO:1900119)	cytoplasm (GO:0005737)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L92P(1)		large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GCGCGTCAGCTGCACATCTCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	2											115	84	94					2																	242501817		2203	4300	6503	242150490	SO:0001583	missense	666			AF174487	CCDS2550.1	2q37.3	2008-05-22			ENSG00000176720	ENSG00000176720			1087	protein-coding gene	gene with protein product		605404				9356461, 11034351, 15102863	Standard	NM_032515		Approved	BCL2L9, BOKL, MGC4631	uc002wbq.3	Q9UMX3	OTTHUMG00000133411	ENST00000318407.3:c.275T>C	2.37:g.242501817T>C	ENSP00000314132:p.Leu92Pro		242150490		Missense_Mutation	SNP	ENST00000318407.3	37	CCDS2550.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.474310	0.63737	.	.	ENSG00000176720	ENST00000318407	T	0.57436	0.4	4.97	4.97	0.65823	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.000000	0.64402	D	0.000003	T	0.71913	0.3396	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76075	-0.3092	10	0.72032	D	0.01	-15.3267	14.643	0.68739	0.0:0.0:0.0:1.0	.	92	Q9UMX3	BOK_HUMAN	P	92	ENSP00000314132:L92P	ENSP00000314132:L92P	L	+	2	0	BOK	242150490	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	7.378000	0.79679	1.851000	0.53745	0.533000	0.62120	CTG		0.637	BOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257268.2	NM_032515		C	242501817	T	C	242501817	3	2	195	1	0	0	0	0	1	0	0	0	1484	1580	55	4	281	4	BOK	2	242501817	Missense_Mutation	SNP	T	TCGA-23-2078-01A-01W-0722-08	70814317	242501817	697556	14	11255											
ITPR1	3708	broad.mit.edu	37	3	4703822	4703822	+	Silent	SNP	T	T	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr3:4703822T>A	ENST00000443694.2	+	12	1263	c.1263T>A	c.(1261-1263)tcT>tcA	p.S421S	ITPR1_ENST00000354582.6_Silent_p.S436S|ITPR1_ENST00000357086.4_Silent_p.S436S|ITPR1_ENST00000456211.2_Silent_p.S421S|ITPR1_ENST00000423119.2_Silent_p.S436S|ITPR1_ENST00000302640.8_Silent_p.S421S|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	436	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.S421S(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTCCGGTTTCTCCTGCTGAAG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	3											114	112	112					3																	4703822		1969	4151	6120	4678822	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1263T>A	3.37:g.4703822T>A			4678822	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.502	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		A	4703822	T	A	4703822	2	1	195	1	0	0	0	0	0	0	0	1	7920	1538	54	5		5	ITPR1	3	4703822	Silent	SNP	T	TCGA-23-2078-01A-01W-0722-08		4703822	193318608	15	11256											
GRM7	2917	broad.mit.edu	37	3	7620140	7620140	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr3:7620140G>A	ENST00000357716.4	+	8	1821	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	GRM7_ENST00000402647.2_Missense_Mutation_p.R516Q|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.R516Q|GRM7_ENST00000486284.1_Missense_Mutation_p.R516Q|GRM7_ENST00000403881.1_Missense_Mutation_p.R516Q	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	516					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.R516Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AAAGGAGTCCGAGAGATACCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											71	70	70					3																	7620140		2203	4300	6503	7595140	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1547G>A	3.37:g.7620140G>A	ENSP00000350348:p.Arg516Gln		7595140	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.663295	0.00772	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;T	0.88975	-2.41;-2.45;-2.44;-2.44;-2.45;-0.92	5.71	4.83	0.62350	.	0.133103	0.51477	D	0.000089	T	0.81331	0.4800	L	0.28344	0.845	0.34292	D	0.683344	B;B;B;B;B	0.12630	0.006;0.002;0.003;0.001;0.003	B;B;B;B;B	0.09377	0.004;0.001;0.0;0.0;0.004	T	0.77935	-0.2401	10	0.11182	T	0.66	.	15.5544	0.76180	0.0:0.1384:0.8616:0.0	.	516;516;271;516;516	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	Q	516;516;516;516;516;516;516;173	ENSP00000350348:R516Q;ENSP00000417536:R516Q;ENSP00000373987:R516Q;ENSP00000385664:R516Q;ENSP00000384585:R516Q;ENSP00000395035:R173Q	ENSP00000350348:R516Q	R	+	2	0	GRM7	7595140	0.989000	0.36119	0.957000	0.39632	0.005000	0.04900	2.947000	0.49058	1.418000	0.47098	-0.165000	0.13383	CGA		0.458	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		A	7620140	G	A	7620140	3	1	195	1	0	0	0	0	1	0	0	0	6802	1058	37	1	1577	1	GRM7	3	7620140	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	2916318	7620140	190402290	16	11257											
TTC21A	199223	broad.mit.edu	37	3	39170331	39170331	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr3:39170331G>A	ENST00000431162.2	+	14	1959	c.1825G>A	c.(1825-1827)Ggc>Agc	p.G609S	TTC21A_ENST00000301819.6_Missense_Mutation_p.G610S|TTC21A_ENST00000440121.1_Missense_Mutation_p.G561S			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	609								p.G610S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAAGGAAGAAGGCAGAAAGTT	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											87	88	87					3																	39170331		1928	4154	6082	39145335	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1825G>A	3.37:g.39170331G>A	ENSP00000398211:p.Gly609Ser		39145335	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	2.484	-0.319004	0.05386	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.61392	0.11;0.11;0.24	5.17	0.138	0.14793	Tetratricopeptide-like helical (1);	0.931884	0.09035	N	0.858149	T	0.38772	0.1053	N	0.21583	0.68	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.003	B;B;B	0.12156	0.002;0.007;0.003	T	0.23013	-1.0200	10	0.09843	T	0.71	-2.3165	10.1282	0.42663	0.4625:0.0:0.5375:0.0	.	561;610;609	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	S	610;592;609;561	ENSP00000301819:G610S;ENSP00000398211:G609S;ENSP00000410882:G561S	ENSP00000301819:G610S	G	+	1	0	TTC21A	39145335	0.012000	0.17670	0.720000	0.30636	0.223000	0.24884	-0.022000	0.12480	0.026000	0.15269	-0.471000	0.05019	GGC		0.537	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		A	39170331	G	A	39170331	3	1	195	1	0	0	0	0	1	0	0	0	16687	1000	35	2	1882	2	TTC21A	3	39170331	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	31550191	39170331	158852099	17	11258											
RTP1	132112	broad.mit.edu	37	3	186917744	186917744	+	Silent	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr3:186917744G>A	ENST00000312295.4	+	2	708	c.678G>A	c.(676-678)tcG>tcA	p.S226S	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	226					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.S226S(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCACCAAGTCGCAGGACCAGA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	3											59	56	57					3																	186917744		2203	4300	6503	188400438	SO:0001819	synonymous_variant	132112			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.678G>A	3.37:g.186917744G>A			188400438		Silent	SNP	ENST00000312295.4	37	CCDS3287.2																																																																																				0.627	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		A	186917744	G	A	186917744	2	1	195	1	0	0	0	0	0	0	0	1	13736	1074	38	1		1	RTP1	3	186917744	Silent	SNP	G	TCGA-23-2078-01A-01W-0722-08	147747413	186917744	11104686	18	11259											
RG9MTD2	93587	broad.mit.edu	37	4	100470496	100470496	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr4:100470496C>G	ENST00000273962.3	-	8	1081	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	TRMT10A_ENST00000394876.2_Missense_Mutation_p.E257Q|TRMT10A_ENST00000394877.3_Missense_Mutation_p.E257Q	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	257	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.E257Q(1)									TCCAGGTATTCCAGAATAATT	0.393																																																1	Substitution - Missense(1)	ovary(1)	4											83	83	83					4																	100470496		2203	4300	6503	100689519	SO:0001583	missense	93587			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.769G>C	4.37:g.100470496C>G	ENSP00000273962:p.Glu257Gln		100689519	B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778107	0.70107	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.21734	1.99;1.99;1.99	5.94	5.94	0.96194	.	0.213391	0.45606	D	0.000352	T	0.19406	0.0466	N	0.24115	0.695	0.42515	D	0.992989	B	0.22683	0.073	B	0.29663	0.105	T	0.08006	-1.0743	10	0.21540	T	0.41	-28.5877	20.3591	0.98849	0.0:1.0:0.0:0.0	.	257	Q8TBZ6	RG9D2_HUMAN	Q	257	ENSP00000378343:E257Q;ENSP00000273962:E257Q;ENSP00000378342:E257Q	ENSP00000273962:E257Q	E	-	1	0	RG9MTD2	100689519	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.459000	0.60102	2.816000	0.96949	0.561000	0.74099	GAA		0.393	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		G	100470496	C	G	100470496	3	3	195	1	0	0	0	0	1	0	0	0	13275	864	30	3	254	3	RG9MTD2	4	100470496	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08		100470496	90683780	19	11260											
G3BP1	10146	broad.mit.edu	37	5	151179553	151179553	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr5:151179553C>G	ENST00000394123.3	+	9	1092	c.947C>G	c.(946-948)cCc>cGc	p.P316R	G3BP1_ENST00000356245.3_Missense_Mutation_p.P316R|G3BP1_ENST00000543466.1_Missense_Mutation_p.P134R			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	316					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.P316R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CAAAGGGGACCCAGACCAAGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	5											29	30	29					5																	151179553		2203	4300	6503	151159746	SO:0001583	missense	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.947C>G	5.37:g.151179553C>G	ENSP00000377681:p.Pro316Arg		151159746	Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894147	0.91889	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.75477	-0.76;-0.94;-0.76	5.29	5.29	0.74685	.	0.048044	0.85682	D	0.000000	D	0.86940	0.6054	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87410	0.2375	10	0.56958	D	0.05	-11.5939	19.3089	0.94177	0.0:1.0:0.0:0.0	.	316	Q13283	G3BP1_HUMAN	R	316;134;316;158	ENSP00000377681:P316R;ENSP00000445035:P134R;ENSP00000348578:P316R	ENSP00000274596:P158R	P	+	2	0	G3BP1	151159746	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	6.957000	0.76019	2.631000	0.89168	0.650000	0.86243	CCC		0.448	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		G	151179553	C	G	151179553	3	3	195	1	0	0	0	0	1	0	0	0	6141	623	22	3	977	3	G3BP1	5	151179553	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08		151179553	29735707	20	11261											
ITK	3702	broad.mit.edu	37	5	156644898	156644898	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr5:156644898C>T	ENST00000422843.3	+	5	628	c.476C>T	c.(475-477)cCt>cTt	p.P159L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	159					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P159L(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCTCTTCCTCCTACTCCTGAA	0.507			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - Missense(1)	ovary(1)	5											135	139	138					5																	156644898		2203	4300	6503	156577476	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.476C>T	5.37:g.156644898C>T	ENSP00000398655:p.Pro159Leu		156577476	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394612	0.62066	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;T	0.91011	-2.77;-1.01	5.01	5.01	0.66863	.	0.111999	0.64402	D	0.000009	D	0.93058	0.7790	M	0.84948	2.725	0.53005	D	0.999963	D	0.56521	0.976	P	0.49140	0.601	D	0.93863	0.7155	10	0.56958	D	0.05	.	15.253	0.73561	0.0:1.0:0.0:0.0	.	159	Q08881	ITK_HUMAN	L	34;159	ENSP00000430327:P34L;ENSP00000398655:P159L	ENSP00000398655:P159L	P	+	2	0	ITK	156577476	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.205000	0.51090	2.318000	0.78349	0.561000	0.74099	CCT		0.507	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			T	156644898	C	T	156644898	3	4	195	1	0	0	0	0	1	0	0	0	7909	681	24	2	494	2	ITK	5	156644898	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	5465345	156644898	24270362	21	11262											
DOCK2	1794	broad.mit.edu	37	5	169435740	169435740	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr5:169435740G>C	ENST00000256935.8	+	32	3302	c.3222G>C	c.(3220-3222)tgG>tgC	p.W1074C	DOCK2_ENST00000520908.1_Missense_Mutation_p.W566C|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.W135C	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1074	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.W1074C(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGATATGTGGTACAAGCTTG	0.498																																																1	Substitution - Missense(1)	ovary(1)	5											216	185	196					5																	169435740		2203	4300	6503	169368318	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3222G>C	5.37:g.169435740G>C	ENSP00000256935:p.Trp1074Cys		169368318	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458500	0.84317	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.58940	0.3;0.3;0.3	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.85470	0.1172	10	0.87932	D	0	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	566;1074	E7ERW7;Q92608	.;DOCK2_HUMAN	C	1074;566;135	ENSP00000256935:W1074C;ENSP00000429283:W566C;ENSP00000438827:W135C	ENSP00000256935:W1074C	W	+	3	0	DOCK2	169368318	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	TGG		0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169435740	G	C	169435740	3	2	195	1	0	0	0	0	1	0	0	0	4687	1270	44	3	3348	3	DOCK2	5	169435740	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	12790842	169435740	11479520	22	11263											
KCNMB1	3779	broad.mit.edu	37	5	169805927	169805927	+	Silent	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr5:169805927G>A	ENST00000274629.4	-	4	799	c.357C>T	c.(355-357)gaC>gaT	p.D119D	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	119					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.D119D(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CCTTCTCCACGTCGGCCCGGG	0.572																																																1	Substitution - coding silent(1)	ovary(1)	5											78	78	78					5																	169805927		2203	4300	6503	169738505	SO:0001819	synonymous_variant	3779			AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"Potassium channels"	6285	protein-coding gene	gene with protein product	"BK channel beta subunit"	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.357C>T	5.37:g.169805927G>A			169738505	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Silent	SNP	ENST00000274629.4	37	CCDS4373.1																																																																																				0.572	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			A	169805927	G	A	169805927	2	1	195	1	0	0	0	0	0	0	0	1	8074	1136	40	1		1	KCNMB1	5	169805927	Silent	SNP	G	TCGA-23-2078-01A-01W-0722-08	370187	169805927	11109333	23	11264											
CUL9	23113	broad.mit.edu	37	6	43154085	43154085	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr6:43154085G>C	ENST00000252050.4	+	4	1227	c.1143G>C	c.(1141-1143)caG>caC	p.Q381H	CUL9_ENST00000372647.2_Missense_Mutation_p.Q381H|CUL9_ENST00000354495.3_Missense_Mutation_p.Q381H	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	381					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.Q381H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATGTGCAGCAGACACTCCAGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											75	71	72					6																	43154085		2203	4300	6503	43262063	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1143G>C	6.37:g.43154085G>C	ENSP00000252050:p.Gln381His		43262063	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854754	0.32791	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73152	-0.71;-0.72;-0.61	5.5	3.67	0.42095	CPH domain (1);Translation protein SH3-like, subgroup (1);	0.557771	0.20291	N	0.095254	T	0.44746	0.1308	N	0.22421	0.69	0.27076	N	0.963204	B;B;P	0.37083	0.0;0.001;0.581	B;B;P	0.44359	0.001;0.003;0.447	T	0.39461	-0.9613	10	0.72032	D	0.01	-11.0765	7.9938	0.30256	0.1557:0.1334:0.7109:0.0	.	381;381;381	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	H	381	ENSP00000252050:Q381H;ENSP00000346490:Q381H;ENSP00000361730:Q381H	ENSP00000252050:Q381H	Q	+	3	2	CUL9	43262063	0.811000	0.29063	0.957000	0.39632	0.569000	0.35902	0.968000	0.29357	0.648000	0.30732	0.467000	0.42956	CAG		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		C	43154085	G	C	43154085	3	2	195	1	0	0	0	0	1	0	0	0	4061	933	33	3	1153	3	CUL9	6	43154085	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08		43154085	127960982	24	11265											
VNN1	8876	broad.mit.edu	37	6	133004295	133004295	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr6:133004295C>G	ENST00000367928.4	-	7	1539	c.1526G>C	c.(1525-1527)tGc>tCc	p.C509S		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	509					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.C509S(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTTAATGAGCATACAATAGG	0.338																																																1	Substitution - Missense(1)	ovary(1)	6											113	106	109					6																	133004295		2203	4300	6503	133045988	SO:0001583	missense	8876			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1526G>C	6.37:g.133004295C>G	ENSP00000356905:p.Cys509Ser		133045988	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863894	0.17250	.	.	ENSG00000112299	ENST00000367928	D	0.87103	-2.21	5.86	-9.78	0.00496	.	1.934170	0.02002	N	0.046328	T	0.54581	0.1867	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54833	-0.8234	10	0.22706	T	0.39	-22.9361	2.5296	0.04700	0.3046:0.3823:0.1042:0.2089	.	509	O95497	VNN1_HUMAN	S	509	ENSP00000356905:C509S	ENSP00000356905:C509S	C	-	2	0	VNN1	133045988	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.179000	0.09768	-1.864000	0.01148	-0.247000	0.11927	TGC		0.338	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			G	133004295	C	G	133004295	3	3	195	1	0	0	0	0	1	0	0	0	17182	710	25	3	19	3	VNN1	6	133004295	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	89850210	133004295	38110772	25	11266											
RNF216	54476	broad.mit.edu	37	7	5662568	5662568	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr7:5662568C>T	ENST00000425013.2	-	17	2748	c.2524G>A	c.(2524-2526)Gac>Aac	p.D842N	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.D899N	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	842	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D899N(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGACCGAAGTCATAGTTGACC	0.632																																																1	Substitution - Missense(1)	ovary(1)	7											107	113	111					7																	5662568		2203	4300	6503	5629094	SO:0001583	missense	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2524G>A	7.37:g.5662568C>T	ENSP00000404602:p.Asp842Asn		5629094	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066450	0.36470	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.44083	0.96;0.93	4.89	4.89	0.63831	.	0.485806	0.22969	N	0.053450	T	0.24624	0.0597	N	0.14661	0.345	0.37994	D	0.934012	B;B	0.10296	0.001;0.003	B;B	0.11329	0.004;0.006	T	0.14200	-1.0481	10	0.19590	T	0.45	-8.1628	10.6194	0.45470	0.0:0.9095:0.0:0.0905	.	842;899	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	N	842;899;654	ENSP00000404602:D842N;ENSP00000374552:D899N	ENSP00000374552:D899N	D	-	1	0	RNF216	5629094	0.980000	0.34600	0.980000	0.43619	0.967000	0.64934	3.011000	0.49567	2.411000	0.81874	0.561000	0.74099	GAC		0.632	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		T	5662568	C	T	5662568	3	4	195	1	0	0	0	0	1	0	0	0	13483	826	29	2	80	2	RNF216	7	5662568	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08		5662568	153476095	26	11267											
POLM	27434	broad.mit.edu	37	7	44119288	44119288	+	Missense_Mutation	SNP	C	C	T	rs372552883		TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr7:44119288C>T	ENST00000242248.5	-	4	625	c.524G>A	c.(523-525)cGc>cAc	p.R175H	POLM_ENST00000395831.3_Missense_Mutation_p.R175H|POLM_ENST00000335195.6_Missense_Mutation_p.R175H|POLM_ENST00000492971.1_5'Flank	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	175					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R175H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GGTGAGGAGGCGGCCCTCACT	0.647								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	ovary(1)	7						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	49	53	51		524	3.9	0.7	7		51	0,8600		0,0,4300	no	missense	POLM	NM_013284.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	175/495	44119288	1,13005	2203	4300	6503	44085813	SO:0001583	missense	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.524G>A	7.37:g.44119288C>T	ENSP00000242248:p.Arg175His		44085813	D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995279	0.35226	2.27E-4	0.0	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831;ENST00000414235	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.75	3.91	0.45181	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.051034	0.85682	N	0.000000	T	0.65312	0.2679	M	0.80183	2.485	0.51767	D	0.999936	D;D;D;P;D;D	0.89917	1.0;1.0;1.0;0.901;1.0;1.0	D;D;D;B;D;D	0.91635	0.999;0.997;0.999;0.232;0.999;0.999	T	0.63184	-0.6694	10	0.38643	T	0.18	-34.1918	7.9212	0.29848	0.0:0.7527:0.1611:0.0861	.	142;175;175;175;175;175	B4DG75;Q6PIY2;Q9H980;Q86WQ9;Q6P5X8;Q9NP87	.;.;.;.;.;DPOLM_HUMAN	H	175;175;175;142	ENSP00000335141:R175H;ENSP00000242248:R175H;ENSP00000379174:R175H;ENSP00000390899:R142H	ENSP00000242248:R175H	R	-	2	0	POLM	44085813	0.997000	0.39634	0.663000	0.29738	0.040000	0.13550	3.901000	0.56303	0.744000	0.32741	-0.140000	0.14226	CGC		0.647	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		T	44119288	C	T	44119288	3	4	195	1	0	0	0	0	1	0	0	0	12206	768	27	1	992	1	POLM	7	44119288	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	38456720	44119288	115019375	27	11268											
CACNA2D1	781	broad.mit.edu	37	7	81591785	81591785	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr7:81591785C>A	ENST00000356253.5	-	35	3098	c.2843G>T	c.(2842-2844)aGt>aTt	p.S948I	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S936I|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S148I			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	948					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S936I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAAGGTCAAACTCAAGAGAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	7											44	45	45					7																	81591785		2203	4300	6503	81429721	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2843G>T	7.37:g.81591785C>A	ENSP00000348589:p.Ser948Ile		81429721	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	19.30	3.800309	0.70567	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.70282	-0.47;-0.47;-0.47	5.42	5.42	0.78866	.	0.043225	0.85682	D	0.000000	D	0.84115	0.5401	M	0.73962	2.25	0.46478	D	0.999065	D;D	0.76494	0.999;0.991	D;D	0.68943	0.961;0.945	D	0.85580	0.1239	10	0.72032	D	0.01	-24.6262	19.2549	0.93943	0.0:1.0:0.0:0.0	.	148;936	B7Z658;P54289-2	.;.	I	936;955;948;148	ENSP00000349320:S936I;ENSP00000348589:S948I;ENSP00000443124:S148I	ENSP00000284088:S955I	S	-	2	0	CACNA2D1	81429721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.556000	0.86216	0.585000	0.79938	AGT		0.333	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				A	81591785	C	A	81591785	3	1	195	1	0	0	0	0	1	0	0	0	2548	565	20	3	488	3	CACNA2D1	7	81591785	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	37472497	81591785	77546878	28	11269											
PTPRZ1	5803	broad.mit.edu	37	7	121674386	121674386	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr7:121674386C>A	ENST00000393386.2	+	17	5649	c.5238C>A	c.(5236-5238)aaC>aaA	p.N1746K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N879K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1746	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H1746Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAGCTCCAACCACCCAGACA	0.363																																																1	Substitution - Missense(1)	ovary(1)	7											74	64	68					7																	121674386		2203	4300	6503	121461622	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5238C>A	7.37:g.121674386C>A	ENSP00000377047:p.Asn1746Lys		121461622	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234105	0.58886	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.13196	2.61;2.61	5.14	2.14	0.27477	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000001	T	0.22975	0.0555	L	0.37697	1.125	0.51767	D	0.999934	D;B;D	0.89917	1.0;0.159;1.0	D;B;D	0.85130	0.997;0.079;0.997	T	0.00664	-1.1620	10	0.66056	D	0.02	.	8.0143	0.30372	0.0:0.5033:0.0:0.4967	.	885;879;1746	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	K	1746;879	ENSP00000377047:N1746K;ENSP00000410000:N879K	ENSP00000377047:N1746K	N	+	3	2	PTPRZ1	121461622	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.035000	0.30216	0.174000	0.19809	-0.229000	0.12294	AAC		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121674386	C	A	121674386	3	1	195	1	0	0	0	0	1	0	0	0	12817	506	18	3	5304	3	PTPRZ1	7	121674386	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	40082601	121674386	37464277	29	11270											
RAB11FIP1	80223	broad.mit.edu	37	8	37729629	37729629	+	Silent	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr8:37729629G>A	ENST00000330843.4	-	4	2703	c.2691C>T	c.(2689-2691)gtC>gtT	p.V897V	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	897					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.V897V(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CACTCATGGGGACTTCGGAGA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	8											58	57	57					8																	37729629		2203	4300	6503	37848787	SO:0001819	synonymous_variant	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2691C>T	8.37:g.37729629G>A			37848787	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	CCDS34882.1																																																																																				0.597	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		A	37729629	G	A	37729629	2	1	195	1	0	0	0	0	0	0	0	1	12896	1161	41	2		2	RAB11FIP1	8	37729629	Silent	SNP	G	TCGA-23-2078-01A-01W-0722-08		37729629	108634393	30	11271											
KLHL9	55958	broad.mit.edu	37	9	21333996	21333996	+	Nonsense_Mutation	SNP	G	G	C			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr9:21333996G>C	ENST00000359039.4	-	1	1383	c.863C>G	c.(862-864)tCa>tGa	p.S288*	KLHL9_ENST00000537938.1_Nonsense_Mutation_p.S220*			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	288					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.S288*(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AGTTCTATCTGACTGCATCAC	0.423																																																1	Substitution - Nonsense(1)	ovary(1)	9											159	143	148					9																	21333996		2203	4300	6503	21323996	SO:0001587	stop_gained	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.863C>G	9.37:g.21333996G>C	ENSP00000351933:p.Ser288*		21323996	Q8TCQ2	Nonsense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805918	0.96967	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	.	.	.	5.37	5.37	0.77165	.	0.152839	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9779	0.86319	0.0:0.0:1.0:0.0	.	.	.	.	X	288;220	.	ENSP00000351933:S288X	S	-	2	0	KLHL9	21323996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.764000	0.98949	2.688000	0.91661	0.650000	0.86243	TCA		0.423	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		C	21333996	G	C	21333996	4	2	195	1	0	0	0	0	0	1	0	0	8396	1294	45	3	994	3	KLHL9	9	21333996	Nonsense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08		21333996	119879435	31	11272											
GABBR2	9568	broad.mit.edu	37	9	101056091	101056091	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr9:101056091A>G	ENST00000259455.2	-	18	3095	c.2636T>C	c.(2635-2637)aTa>aCa	p.I879T		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	879					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.I879T(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TATATCTTCTATAGGATCTTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											225	219	221					9																	101056091		2203	4300	6503	100095912	SO:0001583	missense	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2636T>C	9.37:g.101056091A>G	ENSP00000259455:p.Ile879Thr		100095912	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845184	0.32606	.	.	ENSG00000136928	ENST00000259455	T	0.79454	-1.27	5.1	2.72	0.32119	.	0.154096	0.56097	D	0.000022	T	0.49966	0.1588	N	0.03608	-0.345	0.35174	D	0.771837	B	0.02656	0.0	B	0.01281	0.0	T	0.46898	-0.9158	10	0.22109	T	0.4	-15.2027	6.6231	0.22814	0.7456:0.1651:0.0893:0.0	.	879	O75899	GABR2_HUMAN	T	879	ENSP00000259455:I879T	ENSP00000259455:I879T	I	-	2	0	GABBR2	100095912	1.000000	0.71417	0.970000	0.41538	0.748000	0.42578	5.499000	0.66937	0.953000	0.37825	-0.280000	0.10049	ATA		0.408	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			G	101056091	A	G	101056091	3	3	195	1	0	0	0	0	1	0	0	0	6156	449	16	4	197	4	GABBR2	9	101056091	Missense_Mutation	SNP	A	TCGA-23-2078-01A-01W-0722-08	79722095	101056091	40157340	32	11273											
TLR4	7099	broad.mit.edu	37	9	120476895	120476895	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr9:120476895G>A	ENST00000355622.6	+	3	2590	c.2489G>A	c.(2488-2490)gGa>gAa	p.G830E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.G790E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	830					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G830E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GTGGGTACAGGATGCAATTGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	9											80	83	82					9																	120476895		2203	4300	6503	119516716	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2489G>A	9.37:g.120476895G>A	ENSP00000363089:p.Gly830Glu		119516716	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	0.181	-1.062020	0.01950	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37235	1.51;1.21	5.79	2.12	0.27331	.	0.533640	0.18571	N	0.137327	T	0.07999	0.0200	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36986	-0.9725	10	0.02654	T	1	.	4.8098	0.13339	0.667:0.1589:0.1741:0.0	.	830	O00206	TLR4_HUMAN	E	790;830	ENSP00000377997:G790E;ENSP00000363089:G830E	ENSP00000363089:G830E	G	+	2	0	TLR4	119516716	0.031000	0.19500	0.063000	0.19743	0.002000	0.02628	0.536000	0.23129	0.463000	0.27118	-0.302000	0.09304	GGA		0.483	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		A	120476895	G	A	120476895	3	1	195	1	0	0	0	0	1	0	0	0	15953	1174	41	2	2499	2	TLR4	9	120476895	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	19420804	120476895	20736536	33	11274											
HSPA5	3309	broad.mit.edu	37	9	128000546	128000546	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr9:128000546T>A	ENST00000324460.6	-	7	1479	c.1276A>T	c.(1276-1278)Att>Ttt	p.I426F		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	426					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.I426F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	ACAGTTTCAATACCAAGTGTA	0.403										Prostate(1;0.17)																																						1	Substitution - Missense(1)	ovary(1)	9											126	111	116					9																	128000546		2203	4300	6503	127040367	SO:0001583	missense	3309				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1276A>T	9.37:g.128000546T>A	ENSP00000324173:p.Ile426Phe		127040367	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899104	0.91962	.	.	ENSG00000044574	ENST00000324460	T	0.01422	4.91	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	H	0.99425	4.56	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.38950	-0.9637	10	0.87932	D	0	-16.7653	13.1949	0.59732	0.0:0.0:0.0:1.0	.	426	P11021	GRP78_HUMAN	F	426	ENSP00000324173:I426F	ENSP00000324173:I426F	I	-	1	0	HSPA5	127040367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.701000	0.51217	0.455000	0.32223	ATT		0.403	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			A	128000546	T	A	128000546	3	1	195	1	0	0	0	0	1	0	0	0	7414	1406	49	5	696	5	HSPA5	9	128000546	Missense_Mutation	SNP	T	TCGA-23-2078-01A-01W-0722-08	7523651	128000546	13212885	34	11275											
HERC4	26091	broad.mit.edu	37	10	69692499	69692499	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr10:69692499T>C	ENST00000395198.3	-	24	2964	c.2717A>G	c.(2716-2718)aAt>aGt	p.N906S	HERC4_ENST00000412272.2_Missense_Mutation_p.N828S|HERC4_ENST00000277817.6_Missense_Mutation_p.N796S|HERC4_ENST00000373700.4_Missense_Mutation_p.N898S|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	906	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.N906S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CACTGATTTATTGAATATGTA	0.363																																																1	Substitution - Missense(1)	ovary(1)	10											85	86	86					10																	69692499		2203	4300	6503	69362505	SO:0001583	missense	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2717A>G	10.37:g.69692499T>C	ENSP00000378624:p.Asn906Ser		69362505	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949254	0.73787	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.15	4.01	0.46588	HECT (4);	0.042277	0.85682	N	0.000000	T	0.55955	0.1953	L	0.42529	1.33	0.80722	D	1	B;P;P;P;P	0.51537	0.154;0.851;0.946;0.933;0.927	B;P;P;P;P	0.54706	0.085;0.493;0.732;0.612;0.759	T	0.55244	-0.8171	10	0.51188	T	0.08	.	10.9443	0.47292	0.0:0.0745:0.0:0.9255	.	828;796;756;898;906	Q5GLZ8-3;Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	S	796;828;906;898	ENSP00000277817:N796S;ENSP00000416504:N828S;ENSP00000378624:N906S;ENSP00000362804:N898S	ENSP00000277817:N796S	N	-	2	0	HERC4	69362505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.830000	0.48136	0.900000	0.36469	0.455000	0.32223	AAT		0.363	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		C	69692499	T	C	69692499	3	2	195	1	0	0	0	0	1	0	0	0	7060	1493	52	4	468	4	HERC4	10	69692499	Missense_Mutation	SNP	T	TCGA-23-2078-01A-01W-0722-08		69692499	65842248	35	11276											
PDE2A	5138	broad.mit.edu	37	11	72296638	72296638	+	Splice_Site	SNP	C	C	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr11:72296638C>A	ENST00000334456.5	-	15	1428		c.e15-1		PDE2A_ENST00000418754.2_Splice_Site|PDE2A_ENST00000540345.1_Splice_Site|PDE2A_ENST00000376450.3_Splice_Site|PDE2A_ENST00000544570.1_Splice_Site|PDE2A_ENST00000444035.2_Splice_Site|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGAGAAGAGCCTGGAATGAAG	0.582											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Unknown(1)	ovary(1)	11											55	52	53					11																	72296638		2200	4293	6493	71974286	SO:0001630	splice_region_variant	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1183-1G>T	11.37:g.72296638C>A		1136	71974286	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Splice_Site	SNP	ENST00000334456.5	37	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414763	0.83449	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807;ENST00000538299	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2915	0.82755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE2A	71974286	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.569000	0.53827	2.632000	0.89209	0.478000	0.44815	.		0.582	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599	Intron	A	72296638	C	A	72296638	5	1	195	1	0	0	0	0	0	0	1	0	11636	695	24	3	1711	3	PDE2A	11	72296638	Splice_Site	SNP	C	TCGA-23-2078-01A-01W-0722-08		72296638	62709878	36	11277											
ACCN2	41	broad.mit.edu	37	12	50471824	50471824	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr12:50471824A>T	ENST00000447966.2	+	5	980	c.751A>T	c.(751-753)Agt>Tgt	p.S251C	ASIC1_ENST00000552438.1_Missense_Mutation_p.S285C|ASIC1_ENST00000228468.4_Missense_Mutation_p.S251C	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	251					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)	p.S251C(1)								Amiloride(DB00594)|Diclofenac(DB00586)	GCAGATCCATAGTCAGGATGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	12											191	156	168					12																	50471824		2203	4300	6503	48758091	SO:0001583	missense	41			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.751A>T	12.37:g.50471824A>T	ENSP00000400228:p.Ser251Cys		48758091	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725119	0.89298	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.67345	-0.26;-0.26;-0.26	4.09	4.09	0.47781	.	0.247618	0.38837	N	0.001552	D	0.82939	0.5146	M	0.93808	3.46	0.58432	D	0.999997	P;D	0.58620	0.922;0.983	P;P	0.58013	0.701;0.831	D	0.87891	0.2684	10	0.87932	D	0	-8.5795	13.5416	0.61676	1.0:0.0:0.0:0.0	.	251;251	P78348;P78348-1	ACCN2_HUMAN;.	C	251;251;285	ENSP00000228468:S251C;ENSP00000400228:S251C;ENSP00000450247:S285C	ENSP00000228468:S251C	S	+	1	0	ACCN2	48758091	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.086000	0.94088	1.844000	0.53588	0.460000	0.39030	AGT		0.592	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		T	50471824	A	T	50471824	3	4	195	1	0	0	0	0	1	0	0	0	129	420	15	5	765	5	ACCN2	12	50471824	Missense_Mutation	SNP	A	TCGA-23-2078-01A-01W-0722-08		50471824	83380071	37	11278											
GRIP1	23426	broad.mit.edu	37	12	66849241	66849241	+	Silent	SNP	T	T	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr12:66849241T>A	ENST00000398016.3	-	10	1214	c.1146A>T	c.(1144-1146)ccA>ccT	p.P382P	GRIP1_ENST00000286445.7_Silent_p.P434P|GRIP1_ENST00000359742.4_Silent_p.P434P	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.P382P(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGTTCCACGTGGGCTGGTGG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	12											159	156	157					12																	66849241		1949	4155	6104	65135508	SO:0001819	synonymous_variant	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1146A>T	12.37:g.66849241T>A			65135508	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.39|10.39	1.337338|1.337338	0.24253|0.24253	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000543172	.|.	.|.	.|.	5.51|5.51	-1.91|-1.91	0.07641|0.07641	.|.	.|.	.|.	.|.	.|.	T|T	0.43277|0.43277	0.1240|0.1240	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31752|0.31752	-0.9932|-0.9932	4|4	.|.	.|.	.|.	-11.5531|-11.5531	4.2799|4.2799	0.10827|0.10827	0.3275:0.1886:0.0:0.4839|0.3275:0.1886:0.0:0.4839	.|.	.|.	.|.	.|.	L|S	249|202	.|.	.|.	H|T	-|-	2|1	0|0	GRIP1|GRIP1	65135508|65135508	0.010000|0.010000	0.17322|0.17322	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	-1.237000|-1.237000	0.02922|0.02922	-0.137000|-0.137000	0.11455|0.11455	-0.441000|-0.441000	0.05720|0.05720	CAC|ACG		0.488	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			A	66849241	T	A	66849241	2	1	195	1	0	0	0	0	0	0	0	1	6787	1683	59	5		5	GRIP1	12	66849241	Silent	SNP	T	TCGA-23-2078-01A-01W-0722-08	16377417	66849241	67002654	38	11279											
PARP4	143	broad.mit.edu	37	13	25060373	25060373	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr13:25060373T>C	ENST00000381989.3	-	11	1390	c.1285A>G	c.(1285-1287)Aaa>Gaa	p.K429E		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	429	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K429E(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTACCAAGTTTGCTCAAAAAC	0.388																																																1	Substitution - Missense(1)	ovary(1)	13											108	97	101					13																	25060373		2203	4300	6503	23958373	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1285A>G	13.37:g.25060373T>C	ENSP00000371419:p.Lys429Glu		23958373	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.685779	0.00738	.	.	ENSG00000102699	ENST00000381989	T	0.14391	2.51	4.56	0.758	0.18432	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.714516	0.13212	U	0.405108	T	0.09730	0.0239	L	0.31294	0.92	0.09310	N	1	B	0.23650	0.089	B	0.25614	0.062	T	0.40136	-0.9579	10	0.14656	T	0.56	-0.042	11.2239	0.48871	0.0:0.0:0.5254:0.4746	.	429	Q9UKK3	PARP4_HUMAN	E	429	ENSP00000371419:K429E	ENSP00000371419:K429E	K	-	1	0	PARP4	23958373	0.867000	0.29959	0.056000	0.19401	0.058000	0.15608	1.772000	0.38552	-0.010000	0.14271	-0.472000	0.04984	AAA		0.388	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		C	25060373	T	C	25060373	3	2	195	1	0	0	0	0	1	0	0	0	11463	1821	63	4	3985	4	PARP4	13	25060373	Missense_Mutation	SNP	T	TCGA-23-2078-01A-01W-0722-08		25060373	90109505	39	11280											
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	C	T	rs144457939		TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr13:97639260C>T	ENST00000298440.1	-	4	997	c.754G>A	c.(754-756)Gta>Ata	p.V252I	OXGR1_ENST00000543457.1_Missense_Mutation_p.V252I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V252L(2)|p.V252I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAAAAACATACGTAAAATGCA	0.438																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	13						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	122	119	120		754	-1.5	0.3	13	dbSNP_134	120	0,8600		0,0,4300	no	missense	OXGR1	NM_080818.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	252/338	97639260	1,13005	2203	4300	6503	96437261	SO:0001583	missense	27199			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.754G>A	13.37:g.97639260C>T	ENSP00000298440:p.Val252Ile		96437261	Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	C	2.661	-0.279643	0.05642	2.27E-4	0.0	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.36699	1.24;1.24	5.83	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.562270	0.18992	N	0.125569	T	0.17238	0.0414	N	0.11756	0.17	0.09310	N	0.999998	B	0.19817	0.039	B	0.19391	0.025	T	0.28964	-1.0027	10	0.08837	T	0.75	.	13.4167	0.60972	0.0:0.6035:0.0:0.3965	.	252	Q96P68	OXGR1_HUMAN	I	252	ENSP00000298440:V252I;ENSP00000438800:V252I	ENSP00000298440:V252I	V	-	1	0	OXGR1	96437261	0.000000	0.05858	0.275000	0.24674	0.538000	0.34931	-0.242000	0.08928	-0.354000	0.08212	-0.355000	0.07637	GTA		0.438	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		T	97639260	C	T	97639260	3	4	195	1	0	0	0	0	1	0	0	0	11332	536	19	1	263	1	OXGR1	13	97639260	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	72578887	97639260	17530618	40	11281											
MYO5A	4644	broad.mit.edu	37	15	52689476	52689476	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr15:52689476C>G	ENST00000399231.3	-	10	1484	c.1241G>C	c.(1240-1242)tGg>tCg	p.W414S	MYO5A_ENST00000399233.2_Missense_Mutation_p.W414S|MYO5A_ENST00000553916.1_Missense_Mutation_p.W414S|MYO5A_ENST00000358212.6_Missense_Mutation_p.W414S|MYO5A_ENST00000356338.6_Missense_Mutation_p.W414S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	414	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.W414S(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATCTACAATCCAGTTAAAGAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	15											98	91	93					15																	52689476		1963	4152	6115	50476768	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1241G>C	15.37:g.52689476C>G	ENSP00000382177:p.Trp414Ser		50476768	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656209	0.88056	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.84	5.84	0.93424	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	H	0.96576	3.845	0.80722	D	1	D;D	0.71674	0.96;0.998	P;D	0.66497	0.852;0.944	D	0.97842	1.0269	10	0.87932	D	0	.	20.1392	0.98050	0.0:1.0:0.0:0.0	.	414;414	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	S	414;414;414;414;44;414	ENSP00000382177:W414S;ENSP00000382179:W414S;ENSP00000348693:W414S;ENSP00000350945:W414S;ENSP00000451109:W414S	ENSP00000348693:W414S	W	-	2	0	MYO5A	50476768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.066000	0.71185	2.751000	0.94390	0.591000	0.81541	TGG		0.463	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		G	52689476	C	G	52689476	3	3	195	1	0	0	0	0	1	0	0	0	10078	595	21	3	4454	3	MYO5A	15	52689476	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08		52689476	49841916	41	11282											
HERC1	8925	broad.mit.edu	37	15	63958318	63958318	+	Silent	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr15:63958318G>A	ENST00000443617.2	-	42	8442	c.8355C>T	c.(8353-8355)atC>atT	p.I2785I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2785					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I2785I(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAAGGACAGTGATATTCTGGG	0.517																																																1	Substitution - coding silent(1)	ovary(1)	15											37	37	37					15																	63958318		2007	4177	6184	61745371	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8355C>T	15.37:g.63958318G>A			61745371	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.517	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	63958318	G	A	63958318	2	1	195	1	0	0	0	0	0	0	0	1	7057	1280	45	2		2	HERC1	15	63958318	Silent	SNP	G	TCGA-23-2078-01A-01W-0722-08	11268842	63958318	38573074	42	11283											
TP53	7157	broad.mit.edu	37	17	7577514	7577516	+	In_Frame_Del	DEL	GTG	GTG	-	rs587781433		TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	GTG	GTG	-	-	GTG	GTG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr17:7577514_7577516delGTG	ENST00000269305.4	-	7	954_956	c.765_767delCAC	c.(763-768)atcaca>ata	p.T256del	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_In_Frame_Del_p.T256del|TP53_ENST00000413465.2_In_Frame_Del_p.T256del|TP53_ENST00000420246.2_In_Frame_Del_p.T256del|TP53_ENST00000359597.4_In_Frame_Del_p.T256del|TP53_ENST00000445888.2_In_Frame_Del_p.T256del	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	256	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I255del(7)|p.T256fs*89(4)|p.T256A(3)|p.T256fs*8(2)|p.T256I(2)|p.T256K(2)|p.T256S(2)|p.I255I(2)|p.?(1)|p.T256P(1)|p.I254fs*7(1)|p.I255M(1)|p.T256fs*90(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.T256fs*17(1)|p.I254_T256del(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)	GTCTTCCAGTGTGATGATGGTGA	0.591		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"	42	Substitution - Missense(11)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Substitution - coding silent(2)|Unknown(1)	breast(8)|central_nervous_system(6)|ovary(6)|bone(5)|large_intestine(4)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)|skin(1)|lung(1)|pancreas(1)	17	GRCh37	CM951232	TP53	M																																				7518241	SO:0001651	inframe_deletion	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.765_767delCAC	17.37:g.7577514_7577516delGTG	ENSP00000269305:p.Thr256del		7518239	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	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.591	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577516	GTG	-	7577514	7	5	195	1	0	1	0	1	0	0	0	0	16381	1377	48	0	523	0	TP53	17	7577514	In_Frame_Del	DEL	GTG	TCGA-23-2078-01A-01W-0722-08		7577514	73617696	43	11284											
MYH13	8735	broad.mit.edu	37	17	10263337	10263337	+	Nonsense_Mutation	SNP	A	A	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr17:10263337A>T	ENST00000418404.3	-	6	748	c.585T>A	c.(583-585)taT>taA	p.Y195*	MYH13_ENST00000252172.4_Nonsense_Mutation_p.Y195*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	195	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Y195*(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGTTGCAAAATACTGGATGA	0.517																																																1	Substitution - Nonsense(1)	ovary(1)	17											103	104	104					17																	10263337		2203	4300	6503	10204062	SO:0001587	stop_gained	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.585T>A	17.37:g.10263337A>T	ENSP00000404570:p.Tyr195*		10204062	O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	38	6.699846	0.97772	.	.	ENSG00000006788	ENST00000252172	.	.	.	3.94	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.654	0.34051	0.2606:0.0:0.7394:0.0	.	.	.	.	X	195	.	ENSP00000252172:Y195X	Y	-	3	2	MYH13	10204062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.144000	0.50616	0.973000	0.38340	-0.242000	0.12053	TAT		0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10263337	A	T	10263337	4	4	195	1	0	0	0	0	0	1	0	0	10032	108	4	5	5371	5	MYH13	17	10263337	Nonsense_Mutation	SNP	A	TCGA-23-2078-01A-01W-0722-08	2685823	10263337	70931873	44	11285											
NF1	4763	broad.mit.edu	37	17	29509525	29509525	+	Splice_Site	SNP	G	G	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr17:29509525G>T	ENST00000358273.4	+	8	1113		c.e8-1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTCATGCAGAATGTGCAGA	0.358			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|ovary(1)	17	GRCh37	CS086352|CS086353	NF1	S							71	62	65					17																	29509525		2203	4300	6503	26533651	SO:0001630	splice_region_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.731-1G>T	17.37:g.29509525G>T			26533651	O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788502	0.90367	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.37	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8846	0.41253	0.0723:0.0:0.788:0.1398	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26533651	1.000000	0.71417	0.806000	0.32338	0.928000	0.56348	8.798000	0.91888	0.607000	0.29982	0.561000	0.74099	.		0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	T	29509525	G	T	29509525	5	4	195	1	0	0	0	0	0	0	1	0	10356	956	33	3	760	3	NF1	17	29509525	Splice_Site	SNP	G	TCGA-23-2078-01A-01W-0722-08	19246188	29509525	51685685	45	11286											
NF1	4763	broad.mit.edu	37	17	29654820	29654820	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr17:29654820G>A	ENST00000358273.4	+	38	5955	c.5572G>A	c.(5572-5574)Gca>Aca	p.A1858T	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.A1837T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1858					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.A1858T(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTCAATATCGCATTACTTAA	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17											92	92	92					17																	29654820		2203	4300	6503	26678946	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5572G>A	17.37:g.29654820G>A	ENSP00000351015:p.Ala1858Thr		26678946	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180447	0.94846	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.65364	1.48;-0.15;1.48	5.8	5.8	0.92144	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	M	0.71920	2.185	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.824	P;D;B	0.76575	0.638;0.988;0.18	T	0.79850	-0.1629	10	0.62326	D	0.03	.	19.049	0.93034	0.0:0.0:1.0:0.0	.	887;1837;1858	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	T	1858;1837;1503	ENSP00000351015:A1858T;ENSP00000348498:A1837T;ENSP00000389907:A1503T	ENSP00000348498:A1837T	A	+	1	0	NF1	26678946	1.000000	0.71417	0.952000	0.39060	0.949000	0.60115	9.434000	0.97515	2.733000	0.93635	0.650000	0.86243	GCA		0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29654820	G	A	29654820	3	1	195	1	0	0	0	0	1	0	0	0	10356	1087	38	1	5783	1	NF1	17	29654820	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	145295	29654820	51540390	46	11287											
CNTNAP1	8506	broad.mit.edu	37	17	40842822	40842852	+	Frame_Shift_Del	DEL	ATGGAGCGGCCATTCCTGGGGGCTATCCAGT	ATGGAGCGGCCATTCCTGGGGGCTATCCAGT	-	rs142269872|rs202120747|rs200460212|rs368809538	byFrequency	TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	ATGGAGCGGCCATTCCTGGGGGCTATCCAGT	ATGGAGCGGCCATTCCTGGGGGCTATCCAGT	-	-	ATGGAGCGGCCATTCCTGGGGGCTATCCAGT	ATGGAGCGGCCATTCCTGGGGGCTATCCAGT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr17:40842822_40842852delATGGAGCGGCCATTCCTGGGGGCTATCCAGT	ENST00000264638.4	+	13	2138_2168	c.1921_1951delATGGAGCGGCCATTCCTGGGGGCTATCCAGT	c.(1921-1953)atggagcggccattcctgggggctatccagtacfs	p.MERPFLGAIQY641fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	641	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.M641fs*96(1)|p.M641I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGGTTCCAGCATGGAGCGGCCATTCCTGGGGGCTATCCAGTACTGGAATGC	0.567																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	upper_aerodigestive_tract(1)|ovary(1)	17																																								38096378	SO:0001589	frameshift_variant	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1921_1951delATGGAGCGGCCATTCCTGGGGGCTATCCAGT	17.37:g.40842822_40842852delATGGAGCGGCCATTCCTGGGGGCTATCCAGT	ENSP00000264638:p.Met641fs		38096348		Frame_Shift_Del	DEL	ENST00000264638.4	37	CCDS11436.1																																																																																				0.567	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		-	40842852	ATGGAGCGGCCATTCCTGGGGGCTATCCAGT	-	40842822	7	5	195	1	0	1	0	1	0	0	0	0	3646	217	8	0	1971	0	CNTNAP1	17	40842822	Frame_Shift_Del	DEL	ATGGAGCGGCCATTCCTGGGGGCTATCCAGT	TCGA-23-2078-01A-01W-0722-08	11188002	40842822	40352388	47	11288											
ASXL3	80816	broad.mit.edu	37	18	31322969	31322969	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr18:31322969A>T	ENST00000269197.5	+	12	3157	c.3157A>T	c.(3157-3159)Acc>Tcc	p.T1053S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1053	Ala-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T760S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGGAGCCAGGACCCTCGCAGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	18											30	31	31					18																	31322969		1902	4114	6016	29576967	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3157A>T	18.37:g.31322969A>T	ENSP00000269197:p.Thr1053Ser		29576967	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443149	0.83993	.	.	ENSG00000141431	ENST00000269197	T	0.50813	0.73	5.9	5.9	0.94986	.	0.901323	0.09623	N	0.777348	T	0.68293	0.2985	L	0.59436	1.845	0.46317	D	0.998986	D	0.76494	0.999	D	0.78314	0.991	T	0.60495	-0.7252	10	0.52906	T	0.07	.	16.3352	0.83056	1.0:0.0:0.0:0.0	.	1053	Q9C0F0	ASXL3_HUMAN	S	1053	ENSP00000269197:T1053S	ENSP00000269197:T1053S	T	+	1	0	ASXL3	29576967	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.906000	0.75719	2.248000	0.74166	0.528000	0.53228	ACC		0.597	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31322969	A	T	31322969	3	4	195	1	0	0	0	0	1	0	0	0	1068	275	10	5	3203	5	ASXL3	18	31322969	Missense_Mutation	SNP	A	TCGA-23-2078-01A-01W-0722-08		31322969	46754279	48	11289											
ZNF491	126069	broad.mit.edu	37	19	11917484	11917484	+	Missense_Mutation	SNP	G	G	T	rs143071621	byFrequency	TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr19:11917484G>T	ENST00000323169.5	+	3	1047	c.716G>T	c.(715-717)gGa>gTa	p.G239V	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G239A(1)|p.G239V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ACTCACACAGGAGAAAAACCC	0.428																																																2	Substitution - Missense(2)	ovary(1)|central_nervous_system(1)	19											49	52	51					19																	11917484		2203	4300	6503	11778484	SO:0001583	missense	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.716G>T	19.37:g.11917484G>T	ENSP00000313443:p.Gly239Val		11778484	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	11.66	1.703653	0.30232	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.01599	4.74	0.981	-0.155	0.13395	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	M	0.89478	3.035	0.53005	D	0.999968	D	0.76494	0.999	D	0.63703	0.917	T	0.07731	-1.0757	9	0.87932	D	0	.	4.2302	0.10599	0.1727:0.2416:0.5857:0.0	.	239	Q8N8L2	ZN491_HUMAN	V	239;211	ENSP00000313443:G239V	ENSP00000313443:G239V	G	+	2	0	ZNF491	11778484	0.995000	0.38212	0.010000	0.14722	0.047000	0.14425	2.243000	0.43115	-0.016000	0.14127	-0.571000	0.04153	GGA		0.428	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		T	11917484	G	T	11917484	3	4	195	1	0	0	0	0	1	0	0	0	17942	1174	41	3	718	3	ZNF491	19	11917484	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08		11917484	47211499	49	11290											
EGLN2	112398	broad.mit.edu	37	19	41307036	41307036	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr19:41307036C>T	ENST00000593726.1	+	1	1587	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	EGLN2_ENST00000303961.4_Missense_Mutation_p.R187W|EGLN2_ENST00000406058.2_Missense_Mutation_p.R187W|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000594140.1_5'Flank|CTC-490E21.12_ENST00000601627.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	187					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)	p.R187W(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCCCTGCATGCGGTACTACGG	0.692																																																1	Substitution - Missense(1)	ovary(1)	19											79	85	83					19																	41307036		2203	4299	6502	45998876	SO:0001583	missense	112398			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.559C>T	19.37:g.41307036C>T	ENSP00000469686:p.Arg187Trp		45998876	A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688087	0.68271	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.26223	1.75;1.75	4.16	3.1	0.35709	.	0.145189	0.42294	D	0.000737	T	0.34135	0.0887	L	0.34521	1.04	0.41426	D	0.987835	D	0.76494	0.999	D	0.65684	0.937	T	0.06625	-1.0816	10	0.51188	T	0.08	-11.9768	10.1844	0.42988	0.4904:0.5096:0.0:0.0	.	187	Q96KS0	EGLN2_HUMAN	W	187	ENSP00000307080:R187W;ENSP00000385253:R187W	ENSP00000307080:R187W	R	+	1	2	EGLN2	45998876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.109000	0.31135	1.078000	0.41014	0.591000	0.81541	CGG		0.692	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			T	41307036	C	T	41307036	3	4	195	1	0	0	0	0	1	0	0	0	4969	759	27	1	561	1	EGLN2	19	41307036	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	29389552	41307036	17821947	50	11291											
TMEM50B	757	broad.mit.edu	37	21	34828045	34828045	+	Silent	SNP	A	A	C			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr21:34828045A>C	ENST00000542230.2	-	6	634	c.420T>G	c.(418-420)ctT>ctG	p.L140L		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	140						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L140L(1)		breast(1)|kidney(1)|ovary(1)|skin(1)	4						TAAAAAATATAAGTGCATTTT	0.318																																																1	Substitution - coding silent(1)	ovary(1)	21											98	97	97					21																	34828045		2202	4298	6500	33749915	SO:0001819	synonymous_variant	757			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 4"	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.420T>G	21.37:g.34828045A>C			33749915	B2R4L4|D3DSF1|O60537|Q5PY47	Silent	SNP	ENST00000542230.2	37	CCDS13625.1																																																																																				0.318	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			C	34828045	A	C	34828045	2	2	195	1	0	0	0	0	0	0	0	1	16176	349	13	5		5	TMEM50B	21	34828045	Silent	SNP	A	TCGA-23-2078-01A-01W-0722-08		34828045	13301850	51	11292											
C21orf33	8209	broad.mit.edu	37	21	45556009	45556009	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr21:45556009C>A	ENST00000291577.6	+	3	355	c.262C>A	c.(262-264)Cac>Aac	p.H88N	C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000427803.2_Missense_Mutation_p.H88N|C21orf33_ENST00000348499.5_Missense_Mutation_p.H88N	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	88						mitochondrion (GO:0005739)		p.H88N(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CCCTCAGATGCACGTGATTGA	0.587																																																1	Substitution - Missense(1)	ovary(1)	21											89	76	81					21																	45556009		2203	4300	6503	44380437	SO:0001583	missense	8209			Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.262C>A	21.37:g.45556009C>A	ENSP00000291577:p.His88Asn		44380437	A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000291577.6	37	CCDS33580.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	24.7|24.7|24.7	4.564001|4.564001|4.564001	0.86335|0.86335|0.86335	.|.|.	.|.|.	ENSG00000160221|ENSG00000160221|ENSG00000248354;ENSG00000160221;ENSG00000160221;ENSG00000160221;ENSG00000160221	ENST00000449622|ENST00000419699|ENST00000433711;ENST00000291577;ENST00000427803;ENST00000348499;ENST00000389690	.|.|T;T;T;T	.|.|0.31247	.|.|1.5;1.5;1.5;1.5	4.93|4.93|4.93	4.93|4.93|4.93	0.64822|0.64822|0.64822	.|.|ThiJ/PfpI (1);	.|.|0.051197	.|.|0.85682	.|.|D	.|.|0.000000	T|.|T	0.62551|.|0.62551	0.2437|.|0.2437	M|M|M	0.88241|0.88241|0.88241	2.94|2.94|2.94	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	.|.|D;D	.|.|0.60575	.|.|0.985;0.988	.|.|D;D	.|.|0.67382	.|.|0.919;0.951	T|.|T	0.71203|.|0.71203	-0.4662|.|-0.4662	5|.|10	.|.|0.72032	.|.|D	.|.|0.01	-24.1491|-24.1491|-24.1491	18.5529|18.5529|18.5529	0.91072|0.91072|0.91072	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|88;88	.|.|P30042-2;P30042	.|.|.;ES1_HUMAN	E|X|N	49|3|67;88;88;88;61	.|.|ENSP00000291577:H88N;ENSP00000396655:H88N;ENSP00000344901:H88N;ENSP00000374340:H61N	.|.|ENSP00000415634:H67N	A|C|H	+|+|+	2|3|1	0|2|0	C21orf33|C21orf33|C21orf33;AP001055.7	44380437|44380437|44380437	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	5.594000|5.594000|5.594000	0.67557|0.67557|0.67557	2.449000|2.449000|2.449000	0.82847|0.82847|0.82847	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|TGC|CAC		0.587	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649		A	45556009	C	A	45556009	3	1	195	1	0	0	0	0	1	0	0	0	2125	710	25	3	272	3	C21orf33	21	45556009	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	10727964	45556009	2573886	52	11293											
CYTH4	27128	broad.mit.edu	37	22	37705313	37705313	+	Missense_Mutation	SNP	C	C	G	rs535579793		TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chr22:37705313C>G	ENST00000248901.6	+	9	944	c.757C>G	c.(757-759)Ctc>Gtc	p.L253V		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	253					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.L253V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CGGCAATGACCTCACTCACAC	0.567																																																1	Substitution - Missense(1)	ovary(1)	22											222	162	182					22																	37705313		2203	4300	6503	36035259	SO:0001583	missense	27128			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.757C>G	22.37:g.37705313C>G	ENSP00000248901:p.Leu253Val		36035259	Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394601	0.62066	.	.	ENSG00000100055	ENST00000248901	T	0.08102	3.13	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	M	0.64404	1.975	0.80722	D	1	P	0.39116	0.66	B	0.37047	0.24	T	0.17319	-1.0373	10	0.22706	T	0.39	.	16.0929	0.81102	0.0:1.0:0.0:0.0	.	253	Q9UIA0	CYH4_HUMAN	V	253	ENSP00000248901:L253V	ENSP00000248901:L253V	L	+	1	0	CYTH4	36035259	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.931000	0.70113	2.150000	0.67090	0.561000	0.74099	CTC		0.567	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			G	37705313	C	G	37705313	3	3	195	1	0	0	0	0	1	0	0	0	4206	681	24	3	791	3	CYTH4	22	37705313	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08		37705313	13599253	53	11294											
WWC3	55841	broad.mit.edu	37	X	10084547	10084547	+	Splice_Site	SNP	G	G	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chrX:10084547G>T	ENST00000380861.4	+	10	1455	c.1064G>T	c.(1063-1065)aGc>aTc	p.S355I	WWC3_ENST00000454666.1_Splice_Site_p.S355I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	355	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.S355I(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CAGTTAAAAAGGTAGGTTACT	0.408																																																1	Substitution - Missense(1)	ovary(1)	X											113	108	110					X																	10084547		2203	4300	6503	10044547	SO:0001630	splice_region_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1064+1G>T	X.37:g.10084547G>T			10044547	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573748	0.45902	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543293;ENST00000398613	T;T	0.45668	0.89;0.89	4.95	4.09	0.47781	.	0.230668	0.53938	D	0.000041	T	0.64204	0.2577	M	0.85859	2.78	0.80722	D	1	D	0.63046	0.992	P	0.62014	0.897	T	0.69917	-0.5015	10	0.87932	D	0	-24.883	12.6751	0.56889	0.0824:0.0:0.9176:0.0	.	355	Q9ULE0	WWC3_HUMAN	I	355;355;19;355	ENSP00000370242:S355I;ENSP00000399584:S355I	ENSP00000370242:S355I	S	+	2	0	WWC3	10044547	1.000000	0.71417	0.166000	0.22797	0.124000	0.20399	8.976000	0.93442	0.898000	0.36418	0.585000	0.79938	AGC		0.408	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	Missense_Mutation	T	10084547	G	T	10084547	5	4	195	1	0	0	0	0	0	0	1	0	17413	1014	35	3	1098	3	WWC3	23	10084547	Splice_Site	SNP	G	TCGA-23-2078-01A-01W-0722-08		10084547	145186013	54	11295											
RS1	6247	broad.mit.edu	37	X	18662574	18662574	+	Nonsense_Mutation	SNP	G	G	C			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chrX:18662574G>C	ENST00000379984.3	-	5	538	c.498C>G	c.(496-498)taC>taG	p.Y166*	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	166	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.Y166*(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TCTGGTCCTTGTAGTAAATCC	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	X											149	118	129					X																	18662574		2203	4300	6503	18572495	SO:0001587	stop_gained	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.498C>G	X.37:g.18662574G>C	ENSP00000369320:p.Tyr166*		18572495	Q0QD39	Nonsense_Mutation	SNP	ENST00000379984.3	37	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.515322	0.85389	.	.	ENSG00000102104	ENST00000379984	.	.	.	4.91	-1.72	0.08107	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2638	0.82563	0.1834:0.0:0.8166:0.0	.	.	.	.	X	166	.	ENSP00000369320:Y166X	Y	-	3	2	RS1	18572495	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	2.440000	0.44855	-0.659000	0.05359	-0.356000	0.07607	TAC		0.557	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			C	18662574	G	C	18662574	4	2	195	1	0	0	0	0	0	1	0	0	13696	1372	48	3	184	3	RS1	23	18662574	Nonsense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	8578027	18662574	136607986	55	11296											
PDHA1	5160	broad.mit.edu	37	X	19367444	19367444	+	Silent	SNP	G	G	A			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chrX:19367444G>A	ENST00000422285.2	+	2	177	c.72G>A	c.(70-72)ctG>ctA	p.L24L	PDHA1_ENST00000379805.3_Silent_p.L24L|PDHA1_ENST00000545074.1_Silent_p.L24L|PDHA1_ENST00000540249.1_Silent_p.L24L|PDHA1_ENST00000379806.5_Silent_p.L62L			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	24					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.L24L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GCAGAGTGCTGGTAGCATCCC	0.299																																																1	Substitution - coding silent(1)	ovary(1)	X											81	73	76					X																	19367444		2203	4300	6503	19277365	SO:0001819	synonymous_variant	5160				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.72G>A	X.37:g.19367444G>A			19277365	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	CCDS14192.1																																																																																				0.299	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			A	19367444	G	A	19367444	2	1	195	1	0	0	0	0	0	0	0	1	11664	1335	47	2		2	PDHA1	23	19367444	Silent	SNP	G	TCGA-23-2078-01A-01W-0722-08	704870	19367444	135903116	56	11297											
EFHC2	80258	broad.mit.edu	37	X	44037780	44037780	+	Missense_Mutation	SNP	G	G	T	rs369113642		TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chrX:44037780G>T	ENST00000420999.1	-	12	1865	c.1782C>A	c.(1780-1782)aaC>aaA	p.N594K	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	594							calcium ion binding (GO:0005509)	p.N594K(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GCTCTGCAAGGTTTCCAACAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	X						G	LYS/ASN	0,3130		0,0,0,1280,570	48	40	43		1782	-11	0	X		43	1,6391		0,0,1,2309,1773	no	missense	EFHC2	NM_025184.3	94	0,0,1,3589,2343	TT,TG,T,GG,G		0.0156,0.0,0.0105	benign	594/750	44037780	1,9521	1850	4083	5933	43922724	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1782C>A	X.37:g.44037780G>T	ENSP00000404232:p.Asn594Lys		43922724	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.572|0.572	-0.840758|-0.840758	0.02692|0.02692	0.0|0.0	1.56E-4|1.56E-4	ENSG00000183690|ENSG00000183690	ENST00000343571;ENST00000333807;ENST00000420999|ENST00000441230	T;T|.	0.65364|.	-0.14;-0.15|.	5.53|5.53	-11.0|-11.0	0.00169|0.00169	EF-hand-like domain (1);|.	1.359230|.	0.04323|.	N|.	0.351068|.	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.02960|0.02960	-0.455|-0.455	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.15037|0.15037	-1.0451|-1.0451	10|5	0.02654|.	T|.	1|.	-0.0624|-0.0624	1.0658|1.0658	0.01611|0.01611	0.2933:0.2979:0.25:0.1588|0.2933:0.2979:0.25:0.1588	.|.	594|.	Q5JST6|.	EFHC2_HUMAN|.	K|T	7;594;622|575	ENSP00000333823:N594K;ENSP00000404232:N622K|.	ENSP00000333823:N594K|.	N|P	-|-	3|1	2|0	EFHC2|EFHC2	43922724|43922724	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-1.053000|-1.053000	0.03500|0.03500	-2.125000|-2.125000	0.00821|0.00821	-0.325000|-0.325000	0.08501|0.08501	AAC|CCT		0.368	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		T	44037780	G	T	44037780	3	4	195	1	0	0	0	0	1	0	0	0	4947	1252	44	3	483	3	EFHC2	23	44037780	Missense_Mutation	SNP	G	TCGA-23-2078-01A-01W-0722-08	24670336	44037780	111232780	57	11298											
MTM1	4534	broad.mit.edu	37	X	149809889	149809889	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2078-01A-01W-0722-08	TCGA-23-2078-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	50216c60-ef83-4d4c-adcc-b453d763e881	15604574-abd7-43a2-af20-30c73cb7d502	g.chrX:149809889C>T	ENST00000370396.2	+	8	730	c.676C>T	c.(676-678)Cca>Tca	p.P226S	MTM1_ENST00000542741.1_Missense_Mutation_p.P131S|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.P111S|MTM1_ENST00000413012.2_Missense_Mutation_p.P189S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	226	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.		P -> T (in CNMX). {ECO:0000269|PubMed:12522554}.		endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)	p.P226S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AAATCGAATTCCAGTGAGTAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	X	GRCh37	CM030247	MTM1	M							120	106	111					X																	149809889		2203	4300	6503	149560547	SO:0001583	missense	4534			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.676C>T	X.37:g.149809889C>T	ENSP00000359423:p.Pro226Ser		149560547	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647966	0.87958	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38	5.43	5.43	0.79202	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.048988	0.85682	D	0.000000	D	0.99677	0.9879	H	0.99600	4.65	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.74023	0.982;0.944	D	0.97133	0.9819	10	0.87932	D	0	.	18.6083	0.91275	0.0:1.0:0.0:0.0	.	189;226	B7Z491;Q13496	.;MTM1_HUMAN	S	226;131;111;189	ENSP00000359423:P226S;ENSP00000444015:P131S;ENSP00000439784:P111S;ENSP00000389157:P189S	ENSP00000359423:P226S	P	+	1	0	MTM1	149560547	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.409000	0.80053	2.425000	0.82216	0.523000	0.50628	CCA		0.433	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		T	149809889	C	T	149809889	3	4	195	1	0	0	0	0	1	0	0	0	9937	855	30	2	702	2	MTM1	23	149809889	Missense_Mutation	SNP	C	TCGA-23-2078-01A-01W-0722-08	105772109	149809889	5460671	58	11299											
PTPRF	5792	broad.mit.edu	37	1	44085815	44085815	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr1:44085815G>C	ENST00000359947.4	+	30	5501	c.5161G>C	c.(5161-5163)Gag>Cag	p.E1721Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.E1080Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1712Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1721Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1712Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1721	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1711Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAGAGCACCGAGGACTTCTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											110	105	106					1																	44085815		2203	4300	6503	43858402	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5161G>C	1.37:g.44085815G>C	ENSP00000353030:p.Glu1721Gln		43858402	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.441299|4.441299	0.83993|0.83993	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	D;D;D;D;D;D|.	0.85088|.	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94|.	4.97|4.97	4.97|4.97	0.65823|0.65823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.34750|.	N|.	0.003714|.	T|T	0.76772|0.76772	0.4034|0.4034	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	P;D;D;D;D|.	0.89917|.	0.815;0.999;0.997;0.999;1.0|.	B;D;D;D;D|.	0.91635|.	0.401;0.968;0.953;0.989;0.999|.	T|T	0.76250|0.76250	-0.3028|-0.3028	10|5	0.66056|.	D|.	0.02|.	.|.	19.129|19.129	0.93397|0.93397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1366;1080;1298;1712;1721|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	Q|P	1721;1712;1721;1712;1080;793|1104;1145	ENSP00000353030:E1721Q;ENSP00000398822:E1712Q;ENSP00000361491:E1721Q;ENSP00000361490:E1712Q;ENSP00000387885:E1080Q;ENSP00000361484:E793Q|.	ENSP00000353030:E1721Q|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43858402|43858402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.807000|9.807000	0.99171|0.99171	2.700000|2.700000	0.92200|0.92200	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			C	44085815	G	C	44085815	3	2	196	1	0	0	0	0	1	0	0	0	12804	1059	37	3	5271	3	PTPRF	1	44085815	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08		44085815	205164806	1	11300											
CEP350	9857	broad.mit.edu	37	1	180080188	180080188	+	Silent	SNP	G	G	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr1:180080188G>A	ENST00000367607.3	+	38	9664	c.9246G>A	c.(9244-9246)ttG>ttA	p.L3082L	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3082					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L3082L(1)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGATGAGTTGTGTGTGAAAA	0.438																																																1	Substitution - coding silent(1)	ovary(1)	1											149	131	137					1																	180080188		2203	4300	6503	178346811	SO:0001819	synonymous_variant	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.9246G>A	1.37:g.180080188G>A			178346811	O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	5.041	0.193280	0.09599	.	.	ENSG00000135837	ENST00000429851	.	.	.	6.05	4.14	0.48551	.	.	.	.	.	T	0.60792	0.2296	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59150	-0.7508	4	.	.	.	.	10.4489	0.44509	0.1398:0.1401:0.7201:0.0	.	.	.	.	M	1257	.	.	V	+	1	0	CEP350	178346811	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.794000	0.26958	1.576000	0.49790	0.650000	0.86243	GTG		0.438	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		A	180080188	G	A	180080188	2	1	196	1	0	0	0	0	0	0	0	1	3254	1368	48	2		2	CEP350	1	180080188	Silent	SNP	G	TCGA-23-2079-01A-01W-0722-08	135994373	180080188	69170433	2	11301											
IGFN1	91156	broad.mit.edu	37	1	201182657	201182657	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr1:201182657G>A	ENST00000335211.4	+	12	8766	c.8636G>A	c.(8635-8637)aGg>aAg	p.R2879K	IGFN1_ENST00000451870.2_Missense_Mutation_p.R422K|IGFN1_ENST00000295591.8_Missense_Mutation_p.R39K	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	422						nucleus (GO:0005634)|Z disc (GO:0030018)		p.R39K(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AAAGACGGCAGGTTGGACATC	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											83	79	80					1																	201182657		2203	4300	6503	199449280	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8636G>A	1.37:g.201182657G>A	ENSP00000334714:p.Arg2879Lys		199449280	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.590733	0.28357	.	.	ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591	T;T;T	0.60797	0.59;0.16;0.79	2.15	0.117	0.14652	.	1.558280	0.04522	N	0.384694	T	0.37489	0.1005	L	0.27053	0.805	0.09310	N	1	B	0.20988	0.05	B	0.15870	0.014	T	0.14144	-1.0483	10	0.06236	T	0.91	.	4.504	0.11878	0.1301:0.0:0.6526:0.2173	.	2879	F8WAI1	.	K	2879;422;39	ENSP00000334714:R2879K;ENSP00000398386:R422K;ENSP00000295591:R39K	ENSP00000295591:R39K	R	+	2	0	IGFN1	199449280	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.588000	0.23924	0.031000	0.15407	0.491000	0.48974	AGG		0.567	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		A	201182657	G	A	201182657	3	1	196	1	0	0	0	0	1	0	0	0	7590	1000	35	2	8678	2	IGFN1	1	201182657	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08	21102469	201182657	48067964	3	11302											
CENPO	79172	broad.mit.edu	37	2	25022649	25022649	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr2:25022649A>T	ENST00000380834.2	+	3	577	c.152A>T	c.(151-153)aAg>aTg	p.K51M	CENPO_ENST00000260662.1_Missense_Mutation_p.K51M|CENPO_ENST00000473706.1_Missense_Mutation_p.K45M			Q9BU64	CENPO_HUMAN	centromere protein O	51					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.K51M(1)		breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTTGGAACCAAGATTCATAAA	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											95	104	101					2																	25022649		2203	4300	6503	24876153	SO:0001583	missense	79172			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.152A>T	2.37:g.25022649A>T	ENSP00000370214:p.Lys51Met		24876153	B2RDC0|D6W536|Q53T55|Q96JV3	Missense_Mutation	SNP	ENST00000380834.2	37	CCDS1714.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670566	0.67814	.	.	ENSG00000138092	ENST00000380834;ENST00000473706;ENST00000260662	T;T;T	0.57436	0.4;0.45;0.4	4.75	-0.946	0.10385	.	0.599365	0.17312	N	0.178837	T	0.55561	0.1928	L	0.46157	1.445	0.28675	N	0.905441	D;D	0.65815	0.995;0.992	P;P	0.60415	0.874;0.671	T	0.53308	-0.8457	10	0.66056	D	0.02	-9.5931	7.9772	0.30161	0.5494:0.0:0.4506:0.0	.	45;51	Q9BU64-2;Q9BU64	.;CENPO_HUMAN	M	51;45;51	ENSP00000370214:K51M;ENSP00000417787:K45M;ENSP00000260662:K51M	ENSP00000260662:K51M	K	+	2	0	CENPO	24876153	0.063000	0.20901	0.245000	0.24217	0.104000	0.19210	-0.107000	0.10873	-0.268000	0.09312	0.444000	0.29173	AAG		0.547	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246856.2	NM_024322		T	25022649	A	T	25022649	3	4	196	1	0	0	0	0	1	0	0	0	3239	72	3	5	158	5	CENPO	2	25022649	Missense_Mutation	SNP	A	TCGA-23-2079-01A-01W-0722-08		25022649	218176724	4	11303											
C3orf63	23272	broad.mit.edu	37	3	56667184	56667184	+	Nonsense_Mutation	SNP	A	A	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr3:56667184A>T	ENST00000493960.2	-	18	3645	c.3635T>A	c.(3634-3636)tTa>tAa	p.L1212*	FAM208A_ENST00000355628.5_Nonsense_Mutation_p.L1151*|FAM208A_ENST00000431842.2_Nonsense_Mutation_p.L775*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1212							poly(A) RNA binding (GO:0044822)	p.L775*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTCAGGTTCTAACTGGCTTAT	0.368																																																1	Substitution - Nonsense(1)	ovary(1)	3											84	89	87					3																	56667184		2203	4300	6503	56642224	SO:0001587	stop_gained	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3635T>A	3.37:g.56667184A>T	ENSP00000417509:p.Leu1212*		56642224	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	A	44	10.709663	0.99454	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	.	.	.	5.62	5.62	0.85841	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3223	16.1116	0.81266	1.0:0.0:0.0:0.0	.	.	.	.	X	775;1212;1151	.	ENSP00000347845:L1151X	L	-	2	0	C3orf63	56642224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.455000	0.90355	2.270000	0.75569	0.477000	0.44152	TTA		0.368	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		T	56667184	A	T	56667184	4	4	196	1	0	0	0	0	0	1	0	0	2239	372	13	5	1465	5	C3orf63	3	56667184	Nonsense_Mutation	SNP	A	TCGA-23-2079-01A-01W-0722-08		56667184	141355246	5	11304											
OSBPL11	114885	broad.mit.edu	37	3	125271465	125271465	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr3:125271465A>C	ENST00000296220.5	-	9	1503	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	405					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.F405C(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATGAGACATAAAGTCTGCATA	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											109	105	106					3																	125271465		2203	4300	6503	126754155	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1214T>G	3.37:g.125271465A>C	ENSP00000296220:p.Phe405Cys		126754155	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178076	0.78564	.	.	ENSG00000144909	ENST00000296220	T	0.29917	1.55	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71563	-0.4555	10	0.66056	D	0.02	-11.7316	14.9798	0.71303	1.0:0.0:0.0:0.0	.	405	Q9BXB4	OSB11_HUMAN	C	405	ENSP00000296220:F405C	ENSP00000296220:F405C	F	-	2	0	OSBPL11	126754155	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.963000	0.93385	2.134000	0.65973	0.482000	0.46254	TTT		0.398	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		C	125271465	A	C	125271465	3	2	196	1	0	0	0	0	1	0	0	0	11276	14	1	5	1049	5	OSBPL11	3	125271465	Missense_Mutation	SNP	A	TCGA-23-2079-01A-01W-0722-08	68604281	125271465	72750965	6	11305											
PPP2R3A	5523	broad.mit.edu	37	3	135722027	135722027	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr3:135722027C>A	ENST00000264977.3	+	2	2304	c.1687C>A	c.(1687-1689)Ccc>Acc	p.P563T	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	563					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.P563T(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGTCTCTTCACCCATAGAAAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	3											58	58	58					3																	135722027		2203	4299	6502	137204717	SO:0001583	missense	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1687C>A	3.37:g.135722027C>A	ENSP00000264977:p.Pro563Thr		137204717	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	8.495	0.862993	0.17178	.	.	ENSG00000073711	ENST00000264977	T	0.05855	3.38	5.72	1.72	0.24424	.	0.684332	0.15104	N	0.280353	T	0.03220	0.0094	N	0.08118	0	0.48341	D	0.99963	B	0.17465	0.022	B	0.14023	0.01	T	0.44605	-0.9317	10	0.59425	D	0.04	.	5.1426	0.14967	0.1371:0.507:0.281:0.0749	.	563	Q06190	P2R3A_HUMAN	T	563	ENSP00000264977:P563T	ENSP00000264977:P563T	P	+	1	0	PPP2R3A	137204717	0.146000	0.22672	0.733000	0.30861	0.827000	0.46813	0.155000	0.16362	0.021000	0.15133	0.563000	0.77884	CCC		0.418	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		A	135722027	C	A	135722027	3	1	196	1	0	0	0	0	1	0	0	0	12391	507	18	3	1689	3	PPP2R3A	3	135722027	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	10450562	135722027	62300403	7	11306											
CC2D2A	57545	broad.mit.edu	37	4	15569104	15569104	+	Splice_Site	SNP	A	A	C			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr4:15569104A>C	ENST00000503292.1	+	26	3467	c.3287A>C	c.(3286-3288)cAg>cCg	p.Q1096P	CC2D2A_ENST00000424120.1_Splice_Site_p.Q1096P|CC2D2A_ENST00000389652.5_Splice_Site_p.Q1047P|CC2D2A_ENST00000413206.1_Splice_Site_p.Q1096P	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1096	C2.		Q -> H (in JBTS9). {ECO:0000269|PubMed:18950740}.		cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.Q1047P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCCCTCGGCCAGGTGAGAGAT	0.488																																																1	Substitution - Missense(1)	ovary(1)	4											53	53	53					4																	15569104		2049	4185	6234	15178202	SO:0001630	splice_region_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3288+1A>C	4.37:g.15569104A>C			15178202	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828679	0.71258	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.4	5.4	0.78164	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67725	0.953;0.931	D	0.98346	1.0541	10	0.48119	T	0.1	.	15.4578	0.75330	1.0:0.0:0.0:0.0	.	1096;1047	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	P	1096;1096;1047;1047;1096;1047	ENSP00000403465:Q1096P;ENSP00000398391:Q1096P;ENSP00000421809:Q1096P;ENSP00000374303:Q1047P	ENSP00000374303:Q1047P	Q	+	2	0	CC2D2A	15178202	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.379000	0.73154	2.053000	0.61076	0.460000	0.39030	CAG		0.488	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	Missense_Mutation	C	15569104	A	C	15569104	5	2	196	1	0	0	0	0	0	0	1	0	2728	202	7	5	3584	5	CC2D2A	4	15569104	Splice_Site	SNP	A	TCGA-23-2079-01A-01W-0722-08		15569104	175585172	8	11307											
NEK1	4750	broad.mit.edu	37	4	170398372	170398372	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr4:170398372T>A	ENST00000439128.2	-	24	2893	c.2253A>T	c.(2251-2253)aaA>aaT	p.K751N	NEK1_ENST00000512193.1_Missense_Mutation_p.K682N|NEK1_ENST00000507142.1_Missense_Mutation_p.K779N|NEK1_ENST00000511633.1_Missense_Mutation_p.K735N|NEK1_ENST00000510533.1_Missense_Mutation_p.K707N	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	751					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.K779N(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATGAAACTGATTTTTCTTTTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											80	71	74					4																	170398372		1870	4097	5967	170634947	SO:0001583	missense	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2253A>T	4.37:g.170398372T>A	ENSP00000408020:p.Lys751Asn		170634947	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	T	1.377	-0.584515	0.03827	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.69306	-0.38;-0.39;-0.39;-0.39;-0.38	5.57	-11.1	0.00147	.	0.486738	0.22167	N	0.063695	T	0.40909	0.1136	N	0.25144	0.715	0.09310	N	1	B;B;B;B;B	0.15930	0.004;0.015;0.004;0.015;0.002	B;B;B;B;B	0.16289	0.015;0.015;0.015;0.015;0.007	T	0.04991	-1.0913	10	0.33940	T	0.23	.	11.6429	0.51244	0.2962:0.5371:0.0:0.1667	.	682;735;779;707;751	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	N	751;735;707;779;682	ENSP00000408020:K751N;ENSP00000423332:K735N;ENSP00000427653:K707N;ENSP00000424757:K779N;ENSP00000424938:K682N	ENSP00000408020:K751N	K	-	3	2	NEK1	170634947	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.956000	0.03865	-2.724000	0.00387	-1.093000	0.02169	AAA		0.368	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			A	170398372	T	A	170398372	3	1	196	1	0	0	0	0	1	0	0	0	10321	1490	52	5	1567	5	NEK1	4	170398372	Missense_Mutation	SNP	T	TCGA-23-2079-01A-01W-0722-08	154829268	170398372	20755904	9	11308											
UGT3A1	133688	broad.mit.edu	37	5	35965531	35965531	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr5:35965531T>C	ENST00000274278.3	-	4	1157	c.800A>G	c.(799-801)tAt>tGt	p.Y267C	UGT3A1_ENST00000507113.1_Missense_Mutation_p.Y233C|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Y267C|UGT3A1_ENST00000333811.4_Missense_Mutation_p.Y213C|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	267						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.Y267C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCTCCAATATAAACAGTGTT	0.433																																																1	Substitution - Missense(1)	ovary(1)	5											87	89	88					5																	35965531		2203	4300	6503	36001288	SO:0001583	missense	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.800A>G	5.37:g.35965531T>C	ENSP00000274278:p.Tyr267Cys		36001288	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.640368	0.29157	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	3.05	3.05	0.35203	.	0.314197	0.26586	N	0.023551	T	0.53318	0.1789	L	0.60904	1.88	0.42369	D	0.99244	B;B;B;B	0.28378	0.157;0.027;0.209;0.025	B;B;B;B	0.31245	0.126;0.049;0.113;0.049	T	0.59584	-0.7427	10	0.72032	D	0.01	.	10.867	0.46862	0.0:0.0:0.0:1.0	.	233;267;213;267	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	C	267;267;233;213	ENSP00000274278:Y267C;ENSP00000427079:Y267C;ENSP00000426100:Y233C;ENSP00000328033:Y213C	ENSP00000274278:Y267C	Y	-	2	0	UGT3A1	36001288	0.260000	0.24053	0.143000	0.22291	0.900000	0.52787	0.729000	0.26028	1.333000	0.45449	0.260000	0.18958	TAT		0.433	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		C	35965531	T	C	35965531	3	2	196	1	0	0	0	0	1	0	0	0	16963	1406	49	4	869	4	UGT3A1	5	35965531	Missense_Mutation	SNP	T	TCGA-23-2079-01A-01W-0722-08		35965531	144949729	10	11309											
HEATR7B2	133558	broad.mit.edu	37	5	41038893	41038893	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr5:41038893C>G	ENST00000399564.4	-	21	2609	c.2159G>C	c.(2158-2160)aGa>aCa	p.R720T	MROH2B_ENST00000506092.2_Missense_Mutation_p.R275T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	720								p.R720T(1)									TTGATTAAGTCTGGAGAGAAG	0.502																																																1	Substitution - Missense(1)	ovary(1)	5											69	70	69					5																	41038893		1927	4132	6059	41074650	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2159G>C	5.37:g.41038893C>G	ENSP00000382476:p.Arg720Thr		41074650	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	7.886	0.731259	0.15507	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.67865	4.49;-0.29	5.73	2.84	0.33178	Armadillo-type fold (1);	0.317328	0.26750	N	0.022698	T	0.58250	0.2109	L	0.55481	1.735	0.09310	N	0.99999	P	0.42692	0.787	B	0.41988	0.372	T	0.53429	-0.8440	10	0.52906	T	0.07	.	5.6659	0.17695	0.158:0.6699:0.0:0.1721	.	720	Q7Z745	HTRB2_HUMAN	T	275;425;720	ENSP00000441504:R275T;ENSP00000382476:R720T	ENSP00000296803:R425T	R	-	2	0	HEATR7B2	41074650	0.192000	0.23301	0.176000	0.23000	0.096000	0.18686	0.983000	0.29552	0.884000	0.36064	0.655000	0.94253	AGA		0.502	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		G	41038893	C	G	41038893	3	3	196	1	0	0	0	0	1	0	0	0	7035	913	32	3	2686	3	HEATR7B2	5	41038893	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	5073362	41038893	139876367	11	11310											
KCNN2	3781	broad.mit.edu	37	5	113808788	113808788	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr5:113808788C>T	ENST00000512097.3	+	6	2199	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	KCNN2_ENST00000264773.3_Missense_Mutation_p.A394V|KCNN2_ENST00000503706.1_Missense_Mutation_p.A46V|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	394					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A394V(1)|p.A46V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GCTGTAGTGGCAAGGAAGCTA	0.413																																																2	Substitution - Missense(2)	ovary(2)	5											109	89	96					5																	113808788		2202	4300	6502	113836687	SO:0001583	missense	3781			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1181C>T	5.37:g.113808788C>T	ENSP00000427120:p.Ala394Val		113836687	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522523	0.85600	.	.	ENSG00000080709	ENST00000512097;ENST00000264773;ENST00000503706	T;T;T	0.30714	1.52;1.52;1.52	5.28	5.28	0.74379	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	L	0.39514	1.22	0.80722	D	1	P	0.49559	0.925	P	0.55161	0.77	T	0.33420	-0.9869	10	0.87932	D	0	-2.0271	18.8933	0.92413	0.0:1.0:0.0:0.0	.	394	Q9H2S1	KCNN2_HUMAN	V	394;394;46	ENSP00000427120:A394V;ENSP00000264773:A394V;ENSP00000421439:A46V	ENSP00000264773:A394V	A	+	2	0	KCNN2	113836687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.674000	0.83992	2.624000	0.88883	0.655000	0.94253	GCA		0.413	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		T	113808788	C	T	113808788	3	4	196	1	0	0	0	0	1	0	0	0	8079	710	25	2	1199	2	KCNN2	5	113808788	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	72769895	113808788	67106472	12	11311											
HLA-E	3133	broad.mit.edu	37	6	30460343	30460343	+	Silent	SNP	G	G	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr6:30460343G>A	ENST00000376630.4	+	7	1127	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	354					antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)	p.E354E(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						AGGGGTCTGAGTCTCACAGCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	6											50	57	55					6																	30460343		2203	4300	6503	30568322	SO:0001819	synonymous_variant	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.1062G>A	6.37:g.30460343G>A			30568322	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	CCDS34379.1																																																																																				0.547	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		A	30460343	G	A	30460343	2	1	196	1	0	0	0	0	0	0	0	1	7210	1020	36	2		2	HLA-E	6	30460343	Silent	SNP	G	TCGA-23-2079-01A-01W-0722-08		30460343	140654724	13	11312											
TUBE1	51175	broad.mit.edu	37	6	112397247	112397247	+	Silent	SNP	C	C	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr6:112397247C>T	ENST00000368662.5	-	8	783	c.705G>A	c.(703-705)aaG>aaA	p.K235K	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	235					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.K235K(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	GACTCTTTGGCTTCACAGTTG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	6											161	174	170					6																	112397247		2203	4300	6503	112503940	SO:0001819	synonymous_variant	51175			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"Tubulins"	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.705G>A	6.37:g.112397247C>T			112503940	Q5H8W8|Q8NEG3	Silent	SNP	ENST00000368662.5	37	CCDS5100.1																																																																																				0.398	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262		T	112397247	C	T	112397247	2	4	196	1	0	0	0	0	0	0	0	1	16763	796	28	2		2	TUBE1	6	112397247	Silent	SNP	C	TCGA-23-2079-01A-01W-0722-08	81936904	112397247	58717820	14	11313											
CHD7	55636	broad.mit.edu	37	8	61736434	61736434	+	Silent	SNP	C	C	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr8:61736434C>T	ENST00000423902.2	+	13	3716	c.3237C>T	c.(3235-3237)gcC>gcT	p.A1079A	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Silent_p.A1079A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1079	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.A1079A(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGTTTCATGCCATCATCACTA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	8											115	107	109					8																	61736434		1935	4162	6097	61898988	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3237C>T	8.37:g.61736434C>T			61898988	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.378	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		T	61736434	C	T	61736434	2	4	196	1	0	0	0	0	0	0	0	1	3330	581	21	2		2	CHD7	8	61736434	Silent	SNP	C	TCGA-23-2079-01A-01W-0722-08		61736434	84627588	15	11314											
STMN2	11075	broad.mit.edu	37	8	80553642	80553642	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr8:80553642G>A	ENST00000220876.7	+	3	527	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	STMN2_ENST00000518111.1_Missense_Mutation_p.A49T|STMN2_ENST00000518491.1_Missense_Mutation_p.A38T	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	49	Regulatory/phosphorylation domain. {ECO:0000255}.|SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)	p.A49T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CAACAAACGTGCCTCTGGCCA	0.413																																																1	Substitution - Missense(1)	ovary(1)	8											88	85	86					8																	80553642		1948	4158	6106	80716197	SO:0001583	missense	11075				CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"stathmin-like 2"	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.145G>A	8.37:g.80553642G>A	ENSP00000220876:p.Ala49Thr		80716197	A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	ENST00000220876.7	37	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160411	0.57368	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.68	5.68	0.88126	.	0.105053	0.64402	D	0.000004	T	0.69708	0.3141	M	0.75085	2.285	0.58432	D	0.999997	B;B	0.24920	0.114;0.074	B;B	0.27380	0.079;0.032	T	0.65220	-0.6221	9	0.26408	T	0.33	-4.0509	19.7823	0.96420	0.0:0.0:1.0:0.0	.	49;49	B7Z4K3;Q93045	.;STMN2_HUMAN	T	49;49;49;38	.	ENSP00000220876:A49T	A	+	1	0	STMN2	80716197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.923000	0.87546	2.666000	0.90696	0.467000	0.42956	GCC		0.413	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		A	80553642	G	A	80553642	3	1	196	1	0	0	0	0	1	0	0	0	15311	1319	46	2	155	2	STMN2	8	80553642	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08	18817208	80553642	65810380	16	11315											
TSPYL5	85453	broad.mit.edu	37	8	98289380	98289380	+	Silent	SNP	C	C	G			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr8:98289380C>G	ENST00000322128.3	-	1	796	c.693G>C	c.(691-693)ggG>ggC	p.G231G		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	231					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.G231G(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTCGCAACTGCCCAAACTTCC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	8											65	66	66					8																	98289380		2203	4300	6503	98358556	SO:0001819	synonymous_variant	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.693G>C	8.37:g.98289380C>G			98358556	B3KRF0|Q9C0B3	Silent	SNP	ENST00000322128.3	37	CCDS34927.1																																																																																				0.582	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		G	98289380	C	G	98289380	2	3	196	1	0	0	0	0	0	0	0	1	16662	726	26	3		3	TSPYL5	8	98289380	Silent	SNP	C	TCGA-23-2079-01A-01W-0722-08	17735738	98289380	48074642	17	11316											
RIMS2	9699	broad.mit.edu	37	8	104928759	104928759	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr8:104928759C>G	ENST00000436393.2	+	6	1605	c.1364C>G	c.(1363-1365)cCt>cGt	p.P455R	RIMS2_ENST00000262231.10_Missense_Mutation_p.P532R|RIMS2_ENST00000406091.3_Missense_Mutation_p.P677R|RIMS2_ENST00000507740.1_Missense_Mutation_p.P485R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	755					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.P485R(1)|p.P455R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTTTCAAGGCCTATTGGGTAA	0.353										HNSCC(12;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	8											124	117	119					8																	104928759		1857	4101	5958	104997935	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1364C>G	8.37:g.104928759C>G	ENSP00000390665:p.Pro455Arg		104997935	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	C	22.5	4.301220	0.81136	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.21031	2.03;2.5;2.1;2.15;2.13;2.08;2.53	5.98	5.1	0.69264	PDZ/DHR/GLGF (2);	.	.	.	.	T	0.37433	0.1003	L	0.34521	1.04	0.80722	D	1	P;P;D;D;B;D	0.76494	0.834;0.825;0.999;0.98;0.309;0.982	B;P;D;P;B;P	0.83275	0.278;0.612;0.996;0.67;0.197;0.874	T	0.24225	-1.0166	9	0.87932	D	0	.	16.5964	0.84797	0.1313:0.8687:0.0:0.0	.	755;755;455;532;485;677	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	R	677;708;677;755;68;485;532;485;485;455	ENSP00000427018:P677R;ENSP00000384892:P677R;ENSP00000425205:P485R;ENSP00000262231:P532R;ENSP00000423559:P485R;ENSP00000386228:P485R;ENSP00000390665:P455R	ENSP00000262231:P532R	P	+	2	0	RIMS2	104997935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.504000	0.48704	0.650000	0.86243	CCT		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		G	104928759	C	G	104928759	3	3	196	1	0	0	0	0	1	0	0	0	13371	681	24	3	2186	3	RIMS2	8	104928759	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	6639379	104928759	41435263	18	11317											
RNF20	56254	broad.mit.edu	37	9	104323145	104323145	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr9:104323145C>A	ENST00000389120.3	+	17	2535	c.2445C>A	c.(2443-2445)aaC>aaA	p.N815K		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	815					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N815K(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TACAGAGCAACATTGGCACAG	0.413																																																1	Substitution - Missense(1)	ovary(1)	9											83	84	84					9																	104323145		2203	4300	6503	103362966	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2445C>A	9.37:g.104323145C>A	ENSP00000373772:p.Asn815Lys		103362966	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526329	0.44969	.	.	ENSG00000155827	ENST00000389120	T	0.27557	1.66	5.48	5.48	0.80851	.	0.137128	0.64402	D	0.000003	T	0.15219	0.0367	N	0.04508	-0.205	0.40380	D	0.979431	B	0.26445	0.149	B	0.27076	0.076	T	0.18023	-1.0350	10	0.13853	T	0.58	-16.3199	13.9898	0.64359	0.0:0.9251:0.0:0.0749	.	815	Q5VTR2	BRE1A_HUMAN	K	815	ENSP00000373772:N815K	ENSP00000373772:N815K	N	+	3	2	RNF20	103362966	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.521000	0.22893	2.730000	0.93505	0.650000	0.86243	AAC		0.413	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		A	104323145	C	A	104323145	3	1	196	1	0	0	0	0	1	0	0	0	13476	477	17	3	2507	3	RNF20	9	104323145	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08		104323145	36890286	19	11318											
DFNB31	25861	broad.mit.edu	37	9	117165105	117165105	+	Missense_Mutation	SNP	C	C	A	rs143464875		TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr9:117165105C>A	ENST00000362057.3	-	12	2821	c.2653G>T	c.(2653-2655)Gcc>Tcc	p.A885S	DFNB31_ENST00000265134.6_Missense_Mutation_p.A502S|DFNB31_ENST00000374059.3_Missense_Mutation_p.A534S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	885	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.A885S(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGCCTCGGCGATAATGCGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	9											69	63	65					9																	117165105		2203	4300	6503	116204926	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2653G>T	9.37:g.117165105C>A	ENSP00000354623:p.Ala885Ser		116204926	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	c	32	5.185236	0.94885	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.26660	1.72;1.72;1.72	4.69	4.69	0.59074	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	L	0.33339	1.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.42464	-0.9450	10	0.87932	D	0	-20.509	17.9846	0.89152	0.0:1.0:0.0:0.0	.	884;885;534	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	S	502;534;885	ENSP00000265134:A502S;ENSP00000363172:A534S;ENSP00000354623:A885S	ENSP00000265134:A502S	A	-	1	0	DFNB31	116204926	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	7.107000	0.77047	2.293000	0.77203	0.651000	0.88453	GCC		0.582	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		A	117165105	C	A	117165105	3	1	196	1	0	0	0	0	1	0	0	0	4455	768	27	3	74	3	DFNB31	9	117165105	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	12841960	117165105	24048326	20	11319											
ANO9	338440	broad.mit.edu	37	11	433411	433411	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr11:433411T>C	ENST00000332826.6	-	4	337	c.253A>G	c.(253-255)Agt>Ggt	p.S85G		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	85					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.S85G(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCAAAGACACTGTTGTCAGCA	0.637																																																1	Substitution - Missense(1)	ovary(1)	11											135	134	134					11																	433411		2203	4299	6502	423411	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.253A>G	11.37:g.433411T>C	ENSP00000332788:p.Ser85Gly		423411	B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	t	0.356	-0.942090	0.02322	.	.	ENSG00000185101	ENST00000332826	T	0.66995	-0.24	3.42	-3.73	0.04398	.	1.922980	0.03111	N	0.162497	T	0.48714	0.1515	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30179	-0.9987	10	0.46703	T	0.11	.	4.4407	0.11573	0.0:0.3369:0.3464:0.3167	.	85	A1A5B4	ANO9_HUMAN	G	85	ENSP00000332788:S85G	ENSP00000332788:S85G	S	-	1	0	ANO9	423411	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.640000	0.05440	-0.680000	0.05211	-0.692000	0.03713	AGT		0.637	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		C	433411	T	C	433411	3	2	196	1	0	0	0	0	1	0	0	0	704	1580	55	4	2175	4	ANO9	11	433411	Missense_Mutation	SNP	T	TCGA-23-2079-01A-01W-0722-08		433411	134573105	21	11320											
MRVI1	10335	broad.mit.edu	37	11	10631309	10631309	+	Missense_Mutation	SNP	G	G	A	rs116772600	byFrequency	TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr11:10631309G>A	ENST00000436272.1	-	10	1534	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	MRVI1_ENST00000541483.1_Missense_Mutation_p.R307C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R422C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000547195.1_Missense_Mutation_p.R422C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R198C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R422C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R198C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R198C|MRVI1_ENST00000423302.2_Missense_Mutation_p.R513C|MRVI1_ENST00000531107.1_Missense_Mutation_p.R505C|MRVI1_ENST00000421747.1_Missense_Mutation_p.R504C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R198C			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	486					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.R486C(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGCAGTTTGCGCAGCAGCACA	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											52	53	53					11																	10631309		1905	4120	6025	10587885	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1456C>T	11.37:g.10631309G>A	ENSP00000412229:p.Arg486Cys		10587885	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.552303	0.96501	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	6.17	6.17	0.99709	.	0.057917	0.64402	D	0.000001	T	0.43478	0.1249	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72625	0.966;0.978;0.978;0.963	T	0.07829	-1.0752	10	0.87932	D	0	-12.0107	20.8794	0.99867	0.0:0.0:1.0:0.0	.	307;486;505;504	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	C	504;487;486;422;422;198;198;513;307;505;422	ENSP00000414598:R504C;ENSP00000412229:R486C;ENSP00000448278:R422C;ENSP00000446764:R422C;ENSP00000441971:R198C;ENSP00000401205:R198C;ENSP00000412130:R513C;ENSP00000437784:R307C;ENSP00000432436:R505C;ENSP00000432067:R422C	ENSP00000307885:R487C	R	-	1	0	MRVI1	10587885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.301000	0.89951	2.941000	0.99782	0.655000	0.94253	CGC		0.498	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		A	10631309	G	A	10631309	3	1	196	1	0	0	0	0	1	0	0	0	9853	1087	38	1	1245	1	MRVI1	11	10631309	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08	10197898	10631309	124375207	22	11321											
CST6	1474	broad.mit.edu	37	11	65780321	65780321	+	Silent	SNP	C	C	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr11:65780321C>T	ENST00000312134.2	+	2	469	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	89					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L89L(1)		large_intestine(1)|lung(1)|ovary(1)	3						CAAGTACTTCCTGACGATGGA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	11											79	66	70					11																	65780321		2201	4296	6497	65536897	SO:0001819	synonymous_variant	1474			U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.265C>T	11.37:g.65780321C>T			65536897	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																				0.602	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		T	65780321	C	T	65780321	2	4	196	1	0	0	0	0	0	0	0	1	3976	680	24	2		2	CST6	11	65780321	Silent	SNP	C	TCGA-23-2079-01A-01W-0722-08	55149012	65780321	69226195	23	11322											
CASP4	837	broad.mit.edu	37	11	104820470	104820470	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr11:104820470C>G	ENST00000444739.2	-	5	1491	c.581G>C	c.(580-582)aGa>aCa	p.R194T	CASP4_ENST00000393150.3_Missense_Mutation_p.R138T|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	194					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.R194T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GTGCTCTGGTCTGGTAGCAAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											142	125	131					11																	104820470		2202	4299	6501	104325680	SO:0001583	missense	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.581G>C	11.37:g.104820470C>G	ENSP00000388566:p.Arg194Thr		104325680	A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234087	0.22626	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.21031	2.03;2.03	4.57	-0.928	0.10448	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.455846	0.23891	N	0.043551	T	0.41719	0.1171	M	0.89534	3.04	0.09310	N	1	D;P	0.69078	0.997;0.946	D;P	0.65443	0.935;0.529	T	0.26538	-1.0100	10	0.66056	D	0.02	.	3.6832	0.08319	0.3012:0.4358:0.0:0.263	.	194;194	B4E2D2;P49662	.;CASP4_HUMAN	T	194;138;147	ENSP00000388566:R194T;ENSP00000376857:R138T	ENSP00000347741:R147T	R	-	2	0	CASP4	104325680	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.106000	0.10890	-0.373000	0.07979	-0.142000	0.14014	AGA		0.458	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		G	104820470	C	G	104820470	3	3	196	1	0	0	0	0	1	0	0	0	2673	913	32	3	568	3	CASP4	11	104820470	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	39040149	104820470	30186046	24	11323											
GRIA4	2893	broad.mit.edu	37	11	105483009	105483009	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr11:105483009T>C	ENST00000530497.1	+	2	95	c.95T>C	c.(94-96)cTc>cCc	p.L32P	GRIA4_ENST00000428631.2_Missense_Mutation_p.L32P|GRIA4_ENST00000393125.2_Missense_Mutation_p.L32P|GRIA4_ENST00000282499.5_Missense_Mutation_p.L32P|GRIA4_ENST00000393127.2_Missense_Mutation_p.L32P|GRIA4_ENST00000525187.1_Missense_Mutation_p.L32P|GRIA4_ENST00000527669.1_Missense_Mutation_p.L32P			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	32					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.L32P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATAGGTGGTCTCTTCATCCGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	11											123	107	112					11																	105483009		2202	4299	6501	104988219	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.95T>C	11.37:g.105483009T>C	ENSP00000435775:p.Leu32Pro		104988219	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577112	0.86645	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000015	T	0.56601	0.1996	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.97110	0.986;1.0;1.0;0.998;0.991	T	0.59899	-0.7367	10	0.87932	D	0	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	32;32;62;32;32	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	P	32	ENSP00000376833:L32P;ENSP00000282499:L32P;ENSP00000376835:L32P;ENSP00000415551:L32P;ENSP00000432443:L32P;ENSP00000435775:L32P;ENSP00000432180:L32P	ENSP00000282499:L32P	L	+	2	0	GRIA4	104988219	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	CTC		0.418	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			C	105483009	T	C	105483009	3	2	196	1	0	0	0	0	1	0	0	0	6770	1551	54	4	101	4	GRIA4	11	105483009	Missense_Mutation	SNP	T	TCGA-23-2079-01A-01W-0722-08	662539	105483009	29523507	25	11324											
CACNA1C	775	broad.mit.edu	37	12	2797734	2797734	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr12:2797734T>C	ENST00000347598.4	+	48	6050	c.6050T>C	c.(6049-6051)gTc>gCc	p.V2017A	CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1977A|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V2040A|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1988A|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1997A|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V2004A|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1994A|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1977A|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1969A|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1988A|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1969A|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1986A|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V2010A|CACNA1C_ENST00000399655.1_Missense_Mutation_p.V1969A|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1988A|CACNA1C_ENST00000327702.7_Missense_Mutation_p.V2004A|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1969A|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1969A|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V2040A|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1975A|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1969A|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1989A|CACNA1C-AS1_ENST00000501371.1_RNA	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2052					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V2082A(1)|p.V1504A(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCACAGCCCGTCCCCACCCTG	0.667																																																2	Substitution - Missense(2)	ovary(2)	12											44	52	50					12																	2797734		1920	4123	6043	2667995	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6050T>C	12.37:g.2797734T>C	ENSP00000266376:p.Val2017Ala		2667995	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	9.961	1.222743	0.22457	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	4.97	4.97	0.65823	.	1.575540	0.03042	N	0.153431	T	0.44265	0.1285	L	0.27053	0.805	0.27409	N	0.954639	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28258	0.039;0.108;0.085;0.003;0.064;0.205;0.053;0.127;0.006;0.019;0.205;0.042;0.085;0.127;0.051;0.044;0.085;0.0;0.205;0.0;0.042;0.127;0.205;0.085;0.085	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31614	0.06;0.068;0.035;0.004;0.1;0.133;0.036;0.133;0.037;0.017;0.073;0.026;0.066;0.133;0.016;0.063;0.066;0.004;0.073;0.001;0.026;0.073;0.073;0.035;0.035	T	0.39482	-0.9612	10	0.25106	T	0.35	.	14.658	0.68847	0.0:0.0:0.0:1.0	.	660;2010;1966;2052;2004;1988;1969;1986;1997;1969;1989;1969;2000;2017;1969;2004;2040;1977;1975;1977;1958;1988;1988;1969;1969	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	A	1994;1969;1969;1997;1969;1988;1988;1977;1969;2017;1989;1969;2010;1986;2004;1975;1988;1969;2040;2004;2040;1977;1870	ENSP00000336982:V1994A;ENSP00000382563:V1969A;ENSP00000382552:V1969A;ENSP00000382547:V1997A;ENSP00000382506:V1969A;ENSP00000382530:V1988A;ENSP00000382546:V1988A;ENSP00000382500:V1977A;ENSP00000382549:V1969A;ENSP00000266376:V2017A;ENSP00000382515:V1989A;ENSP00000382510:V1969A;ENSP00000341092:V2010A;ENSP00000382537:V1986A;ENSP00000329877:V2004A;ENSP00000382557:V1975A;ENSP00000385724:V1988A;ENSP00000382512:V1969A;ENSP00000382542:V2040A;ENSP00000382526:V2004A;ENSP00000385896:V2040A;ENSP00000382504:V1977A	ENSP00000323129:V1870A	V	+	2	0	CACNA1C	2667995	0.988000	0.35896	0.997000	0.53966	0.350000	0.29205	3.682000	0.54656	1.874000	0.54306	0.379000	0.24179	GTC		0.667	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		C	2797734	T	C	2797734	3	2	196	1	0	0	0	0	1	0	0	0	2540	1667	58	4	6797	4	CACNA1C	12	2797734	Missense_Mutation	SNP	T	TCGA-23-2079-01A-01W-0722-08		2797734	131054161	26	11325											
C12orf40	283461	broad.mit.edu	37	12	40076581	40076581	+	Missense_Mutation	SNP	C	C	A	rs201124119		TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr12:40076581C>A	ENST00000324616.5	+	8	1009	c.855C>A	c.(853-855)aaC>aaA	p.N285K	C12orf40_ENST00000405531.3_Missense_Mutation_p.N285K|C12orf40_ENST00000398716.1_Missense_Mutation_p.N208K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	285								p.N285K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAGATGTGAACCAGTCTACTC	0.318																																																1	Substitution - Missense(1)	ovary(1)	12											139	136	137					12																	40076581		1842	4080	5922	38362848	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.855C>A	12.37:g.40076581C>A	ENSP00000317671:p.Asn285Lys		38362848	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	2.371	-0.344421	0.05208	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.49720	0.77;0.79	5.12	1.24	0.21308	.	0.190093	0.36268	N	0.002694	T	0.28234	0.0697	L	0.34521	1.04	0.09310	N	0.999995	P	0.41102	0.738	B	0.38562	0.276	T	0.13176	-1.0519	10	0.15952	T	0.53	.	5.2529	0.15532	0.0:0.5935:0.1521:0.2544	.	285	Q86WS4	CL040_HUMAN	K	285;208;285	ENSP00000383897:N285K;ENSP00000317671:N285K	ENSP00000317671:N285K	N	+	3	2	C12orf40	38362848	0.040000	0.19996	0.103000	0.21229	0.019000	0.09904	-0.016000	0.12613	0.389000	0.25086	-0.339000	0.08088	AAC		0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		A	40076581	C	A	40076581	3	1	196	1	0	0	0	0	1	0	0	0	1686	506	18	3	885	3	C12orf40	12	40076581	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	37278847	40076581	93775314	27	11326											
OBFC2B	79035	broad.mit.edu	37	12	56622860	56622860	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr12:56622860C>A	ENST00000380198.2	+	6	997	c.499C>A	c.(499-501)Ccc>Acc	p.P167T	SLC39A5_ENST00000266980.4_5'Flank|SLC39A5_ENST00000454355.2_5'Flank|NABP2_ENST00000267023.4_Missense_Mutation_p.P167T|NABP2_ENST00000341463.5_Missense_Mutation_p.P167T			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	167	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)	p.P167T(1)									TGGCCCACATCCCCCTCATAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	12											29	31	31					12																	56622860		2203	4300	6503	54909127	SO:0001583	missense	79035			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.499C>A	12.37:g.56622860C>A	ENSP00000369545:p.Pro167Thr		54909127	A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691663	0.15039	.	.	ENSG00000139579	ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.31510	1.49;1.49;1.49	5.39	3.42	0.39159	.	0.093716	0.43919	D	0.000505	T	0.23451	0.0567	L	0.43152	1.355	0.23215	N	0.998102	B	0.06786	0.001	B	0.04013	0.001	T	0.13098	-1.0522	9	.	.	.	-17.4392	9.5908	0.39545	0.1435:0.5765:0.28:0.0	.	167	Q9BQ15	SOSB1_HUMAN	T	167	ENSP00000267023:P167T;ENSP00000369545:P167T;ENSP00000368862:P167T	.	P	+	1	0	OBFC2B	54909127	0.076000	0.21285	0.735000	0.30896	0.541000	0.35023	0.311000	0.19380	1.388000	0.46506	0.655000	0.94253	CCC		0.582	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		A	56622860	C	A	56622860	3	1	196	1	0	0	0	0	1	0	0	0	10809	855	30	3	521	3	OBFC2B	12	56622860	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	16546279	56622860	77229035	28	11327											
PAN2	9924	broad.mit.edu	37	12	56717139	56717139	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr12:56717139G>T	ENST00000425394.2	-	16	2689	c.2313C>A	c.(2311-2313)caC>caA	p.H771Q	PAN2_ENST00000257931.5_Missense_Mutation_p.H770Q|PAN2_ENST00000548043.1_Missense_Mutation_p.H771Q|PAN2_ENST00000440411.3_Missense_Mutation_p.H767Q	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.H767Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TTTCCCCACCGTGTTTCTTTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											108	101	103					12																	56717139		2203	4300	6503	55003406	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2313C>A	12.37:g.56717139G>T	ENSP00000401721:p.His771Gln		55003406		Missense_Mutation	SNP	ENST00000425394.2	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	6.971	0.549111	0.13312	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05139	3.49;3.49;3.49;3.49	5.34	-7.27	0.01461	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.864182	0.10447	N	0.673571	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.45673	-0.9245	10	0.27082	T	0.32	-0.8611	7.2389	0.26086	0.1687:0.1201:0.5928:0.1184	.	770;767;771	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	Q	771;767;770;771	ENSP00000401721:H771Q;ENSP00000388231:H767Q;ENSP00000257931:H770Q;ENSP00000449861:H771Q	ENSP00000257931:H770Q	H	-	3	2	PAN2	55003406	0.003000	0.15002	0.178000	0.23040	0.907000	0.53573	-0.450000	0.06803	-0.829000	0.04268	-1.047000	0.02352	CAC		0.428	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		T	56717139	G	T	56717139	3	4	196	1	0	0	0	0	1	0	0	0	11414	1136	40	3	1339	3	PAN2	12	56717139	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08	94279	56717139	77134756	29	11328											
RIMBP2	23504	broad.mit.edu	37	12	130926553	130926553	+	Silent	SNP	G	G	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr12:130926553G>T	ENST00000261655.4	-	8	1456	c.1293C>A	c.(1291-1293)atC>atA	p.I431I	RIMBP2_ENST00000535703.1_Silent_p.I339I|RIMBP2_ENST00000536002.1_Silent_p.I339I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I431I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGCCTTGACGATGTCGAACT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	12											130	93	106					12																	130926553		2203	4300	6503	129492506	SO:0001819	synonymous_variant	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1293C>A	12.37:g.130926553G>T			129492506	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																				0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130926553	G	T	130926553	2	4	196	1	0	0	0	0	0	0	0	1	13366	1048	37	3		3	RIMBP2	12	130926553	Silent	SNP	G	TCGA-23-2079-01A-01W-0722-08	74209414	130926553	2925342	30	11329											
XPO4	64328	broad.mit.edu	37	13	21396414	21396414	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr13:21396414G>C	ENST00000255305.6	-	8	926	c.855C>G	c.(853-855)atC>atG	p.I285M	XPO4_ENST00000400602.2_Missense_Mutation_p.I285M			Q9C0E2	XPO4_HUMAN	exportin 4	285					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I258M(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AATCTTCTCTGATTTTTCGAT	0.398																																																1	Substitution - Missense(1)	ovary(1)	13											121	115	117					13																	21396414		1854	4090	5944	20294414	SO:0001583	missense	64328			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.855C>G	13.37:g.21396414G>C	ENSP00000255305:p.Ile285Met		20294414	Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338900	0.60963	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.68331	-0.32;-0.32	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	L	0.55481	1.735	0.58432	D	0.999997	D	0.64830	0.994	P	0.59221	0.854	T	0.75536	-0.3283	10	0.59425	D	0.04	-4.2233	14.1271	0.65228	0.072:0.0:0.928:0.0	.	285	Q9C0E2	XPO4_HUMAN	M	285;155;285	ENSP00000383444:I285M;ENSP00000255305:I285M	ENSP00000255305:I285M	I	-	3	3	XPO4	20294414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.719000	0.54926	2.779000	0.95612	0.655000	0.94253	ATC		0.398	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		C	21396414	G	C	21396414	3	2	196	1	0	0	0	0	1	0	0	0	17446	1280	45	3	2664	3	XPO4	13	21396414	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08		21396414	93773464	31	11330											
RB1	5925	broad.mit.edu	37	13	48941648	48941648	+	Nonsense_Mutation	SNP	C	C	T	rs121913300		TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr13:48941648C>T	ENST00000267163.4	+	10	1096	c.958C>T	c.(958-960)Cga>Tga	p.R320*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	320					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.R320*(11)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCTTTCTAAACGATACGAAGA	0.313	R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)|R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	33	Whole gene deletion(15)|Substitution - Nonsense(11)|Unknown(7)	bone(11)|eye(8)|breast(5)|endometrium(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	13	GRCh37	CM941205	RB1	M	rs121913300						54	64	61					13																	48941648		2194	4283	6477	47839649	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.958C>T	13.37:g.48941648C>T	ENSP00000267163:p.Arg320*		47839649	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	6.735464	0.97801	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.43	5.43	0.79202	.	0.126181	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.5633	0.68156	0.1469:0.8531:0.0:0.0	.	.	.	.	X	299;320	.	ENSP00000267163:R320X	R	+	1	2	RB1	47839649	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.830000	0.48136	2.521000	0.84997	0.591000	0.81541	CGA		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	48941648	C	T	48941648	4	4	196	1	0	0	0	0	0	1	0	0	13101	528	19	1	996	1	RB1	13	48941648	Nonsense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	27545234	48941648	66228230	32	11331											
TTC5	91875	broad.mit.edu	37	14	20757901	20757901	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr14:20757901T>A	ENST00000258821.3	-	10	1264	c.1208A>T	c.(1207-1209)tAt>tTt	p.Y403F	TTC5_ENST00000556592.1_5'Flank	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	403					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y403F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GGAAAAGGAATAGTCCTAGAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											50	43	45					14																	20757901		2203	4300	6503	19827741	SO:0001583	missense	91875			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.1208A>T	14.37:g.20757901T>A	ENSP00000258821:p.Tyr403Phe		19827741	A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	T	0.197	-1.047803	0.01981	.	.	ENSG00000136319	ENST00000258821	T	0.28666	1.6	5.29	2.87	0.33458	.	0.185281	0.48286	N	0.000190	T	0.10078	0.0247	N	0.04203	-0.255	0.38334	D	0.943877	B	0.02656	0.0	B	0.01281	0.0	T	0.26744	-1.0094	10	0.02654	T	1	.	5.5068	0.16858	0.3066:0.0:0.1596:0.5338	.	403	Q8N0Z6	TTC5_HUMAN	F	403	ENSP00000258821:Y403F	ENSP00000258821:Y403F	Y	-	2	0	TTC5	19827741	0.997000	0.39634	0.997000	0.53966	0.479000	0.33129	1.356000	0.34079	0.434000	0.26340	-0.323000	0.08544	TAT		0.522	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		A	20757901	T	A	20757901	3	1	196	1	0	0	0	0	1	0	0	0	16711	1406	49	5	118	5	TTC5	14	20757901	Missense_Mutation	SNP	T	TCGA-23-2079-01A-01W-0722-08		20757901	86591639	33	11332											
SALL2	6297	broad.mit.edu	37	14	21991569	21991569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr14:21991569C>A	ENST00000327430.3	-	2	2587	c.2293G>T	c.(2293-2295)Gag>Tag	p.E765*	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Nonsense_Mutation_p.E628*|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	765	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E765*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		tcttcctcctcctcAGACAAC	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	14											59	58	58					14																	21991569		2203	4300	6503	21061409	SO:0001587	stop_gained	6297			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2293G>T	14.37:g.21991569C>A	ENSP00000333537:p.Glu765*		21061409	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Nonsense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.588428|7.588428	0.98374|0.98374	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	.|.	.|.	.|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.32548|.	N|.	0.005956|.	.|T	.|0.62974	.|0.2472	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69427	.|-0.5148	.|3	0.54805|.	T|.	0.06|.	.|.	13.1465|13.1465	0.59465|0.59465	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	765;628|623	.|.	ENSP00000333537:E765X|.	E|R	-|-	1|3	0|2	SALL2|SALL2	21061409|21061409	0.269000|0.269000	0.24143|0.24143	0.970000|0.970000	0.41538|0.41538	0.927000|0.927000	0.56198|0.56198	0.927000|0.927000	0.28818|0.28818	2.468000|2.468000	0.83385|0.83385	0.563000|0.563000	0.77884|0.77884	GAG|AGG		0.557	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		A	21991569	C	A	21991569	4	1	196	1	0	0	0	0	0	1	0	0	13814	864	30	3	734	3	SALL2	14	21991569	Nonsense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	1233668	21991569	85357971	34	11333											
PMM2	5373	broad.mit.edu	37	16	8895757	8895757	+	Silent	SNP	G	G	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr16:8895757G>A	ENST00000268261.4	+	2	234	c.168G>A	c.(166-168)ctG>ctA	p.L56L	PMM2_ENST00000537352.1_5'UTR|PMM2_ENST00000539622.1_5'UTR|PMM2_ENST00000569958.1_Silent_p.L56L|PMM2_ENST00000566983.1_Silent_p.L29L	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	56					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)	p.L56L(1)		breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						AGGAGCAACTGGGAAATGATG	0.393																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)											1	Substitution - coding silent(1)	ovary(1)	16											72	73	73					16																	8895757		2197	4300	6497	8803258	SO:0001819	synonymous_variant	5373			BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"phosphomannose isomerase 1"	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.168G>A	16.37:g.8895757G>A			8803258	A8K672|B7Z6R0|D3DUF3	Silent	SNP	ENST00000268261.4	37	CCDS10536.1																																																																																				0.393	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		A	8895757	G	A	8895757	2	1	196	1	0	0	0	0	0	0	0	1	12137	1335	47	2		2	PMM2	16	8895757	Silent	SNP	G	TCGA-23-2079-01A-01W-0722-08		8895757	81458996	35	11334											
PARN	5073	broad.mit.edu	37	16	14530615	14530615	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr16:14530615T>A	ENST00000437198.2	-	24	2020	c.1879A>T	c.(1879-1881)Aac>Tac	p.N627Y	PARN_ENST00000539279.1_Missense_Mutation_p.N452Y|PARN_ENST00000341484.7_Missense_Mutation_p.N566Y|PARN_ENST00000420015.2_Missense_Mutation_p.N581Y	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	627					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.N627Y(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GCAGGGCTGTTCTTCGAGATG	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											48	49	49					16																	14530615		1977	4180	6157	14438116	SO:0001583	missense	5073			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1879A>T	16.37:g.14530615T>A	ENSP00000387911:p.Asn627Tyr		14438116	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	8.770	0.925723	0.18056	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.39	3.07	0.35406	.	1.395560	0.04269	N	0.341772	T	0.21590	0.0520	N	0.08118	0	0.09310	N	1	B;B;B	0.31931	0.347;0.102;0.031	B;B;B	0.28232	0.087;0.028;0.017	T	0.21586	-1.0241	9	0.66056	D	0.02	-0.4988	7.2168	0.25965	0.0:0.7162:0.0:0.2838	.	452;581;627	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	Y	627;566;581;452	.	ENSP00000345456:N566Y	N	-	1	0	PARN	14438116	0.005000	0.15991	0.198000	0.23420	0.306000	0.27790	-0.027000	0.12371	1.258000	0.44101	-0.248000	0.11899	AAC		0.542	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		A	14530615	T	A	14530615	3	1	196	1	0	0	0	0	1	0	0	0	11453	1783	62	5	44	5	PARN	16	14530615	Missense_Mutation	SNP	T	TCGA-23-2079-01A-01W-0722-08	5634858	14530615	75824138	36	11335											
GTF3C1	2975	broad.mit.edu	37	16	27501066	27501066	+	Splice_Site	SNP	T	T	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr16:27501066T>A	ENST00000356183.4	-	20	3167		c.e20-2		GTF3C1_ENST00000561623.1_Splice_Site	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa						5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCACCACGCCTGGAAAACCAA	0.622																																																0			16											60	43	49					16																	27501066		2197	4300	6497	27408567	SO:0001630	splice_region_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3152-2A>T	16.37:g.27501066T>A			27408567	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Splice_Site	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.617382	0.28801	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8045	0.57605	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTF3C1	27408567	1.000000	0.71417	0.424000	0.26647	0.164000	0.22412	5.140000	0.64807	1.836000	0.53414	0.533000	0.62120	.		0.622	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	Intron	A	27501066	T	A	27501066	5	1	196	1	0	0	0	0	0	0	1	0	6872	1594	55	5	3251	5	GTF3C1	16	27501066	Splice_Site	SNP	T	TCGA-23-2079-01A-01W-0722-08	12970451	27501066	62853687	37	11336											
LPO	4025	broad.mit.edu	37	17	56329650	56329650	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr17:56329650G>T	ENST00000262290.4	+	8	1204	c.888G>T	c.(886-888)caG>caT	p.Q296H	LPO_ENST00000582328.1_Missense_Mutation_p.Q213H|LPO_ENST00000421678.2_Missense_Mutation_p.Q213H|LPO_ENST00000543544.1_Missense_Mutation_p.Q237H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	296					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.Q296H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCCGAGAGCAGATCAACGCTC	0.627																																																1	Substitution - Missense(1)	ovary(1)	17											95	84	88					17																	56329650		2203	4300	6503	53684649	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.888G>T	17.37:g.56329650G>T	ENSP00000262290:p.Gln296His		53684649	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284401	0.40394	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73789	-0.78;-0.78;-0.78	5.3	1.75	0.24633	.	0.000000	0.64402	D	0.000004	D	0.87803	0.6269	M	0.94142	3.5	0.52099	D	0.999947	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.87836	0.2648	10	0.87932	D	0	-22.8046	9.384	0.38331	0.3233:0.0:0.6767:0.0	.	213;296	E7EMJ3;P22079	.;PERL_HUMAN	H	296;213;237;41	ENSP00000262290:Q296H;ENSP00000400245:Q213H;ENSP00000445344:Q237H	ENSP00000262290:Q296H	Q	+	3	2	LPO	53684649	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.597000	0.54031	0.623000	0.30267	0.655000	0.94253	CAG		0.627	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			T	56329650	G	T	56329650	3	4	196	1	0	0	0	0	1	0	0	0	8922	933	33	3	914	3	LPO	17	56329650	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08		56329650	24865560	38	11337											
DDX42	11325	broad.mit.edu	37	17	61886264	61886264	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr17:61886264G>A	ENST00000578681.1	+	11	1709	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	DDX42_ENST00000583590.1_Missense_Mutation_p.A370T|DDX42_ENST00000359353.5_Missense_Mutation_p.A251T|DDX42_ENST00000457800.2_Missense_Mutation_p.A370T|DDX42_ENST00000389924.2_Missense_Mutation_p.A370T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	370	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.A370T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTGGGAGCAGGCCAAGGCCCT	0.478																																																1	Substitution - Missense(1)	ovary(1)	17											172	156	161					17																	61886264		2203	4300	6503	59239996	SO:0001583	missense	11325			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1108G>A	17.37:g.61886264G>A	ENSP00000464050:p.Ala370Thr		59239996	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592876	0.66219	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.15256	2.44;2.44	5.42	5.42	0.78866	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.098404	0.64402	D	0.000001	T	0.15262	0.0368	L	0.27053	0.805	0.80722	D	1	B	0.25486	0.127	B	0.28465	0.09	T	0.08659	-1.0711	10	0.22706	T	0.39	-11.289	18.5614	0.91101	0.0:0.0:1.0:0.0	.	370	Q86XP3	DDX42_HUMAN	T	370;370;106	ENSP00000374574:A370T;ENSP00000390121:A370T	ENSP00000352308:A106T	A	+	1	0	DDX42	59239996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.804000	0.99143	2.719000	0.93026	0.573000	0.79308	GCC		0.478	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		A	61886264	G	A	61886264	3	1	196	1	0	0	0	0	1	0	0	0	4362	1203	42	2	1142	2	DDX42	17	61886264	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08	5556614	61886264	19308946	39	11338											
SRP68	6730	broad.mit.edu	37	17	74046604	74046604	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr17:74046604C>T	ENST00000307877.2	-	9	1143	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.E290K|SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.E227K	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	328					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.E328K(1)|p.E328*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCTTCGCTTTCAGCCTAAACA	0.512																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|lung(1)	17											89	76	80					17																	74046604		2203	4300	6503	71558199	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.982G>A	17.37:g.74046604C>T	ENSP00000312066:p.Glu328Lys		71558199	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793015	0.50102	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.87	4.88	0.63580	.	0.136685	0.64402	D	0.000003	T	0.44414	0.1292	L	0.34521	1.04	0.53688	D	0.999977	B;B	0.26547	0.082;0.152	B;B	0.25140	0.037;0.058	T	0.35400	-0.9790	9	0.06757	T	0.87	-26.9773	16.0087	0.80380	0.0:0.8653:0.1347:0.0	.	290;328	G3V1U4;Q9UHB9	.;SRP68_HUMAN	K	68;290;328;328;297;227	.	ENSP00000307756:E297K	E	-	1	0	SRP68	71558199	0.999000	0.42202	0.984000	0.44739	0.969000	0.65631	4.339000	0.59322	1.459000	0.47892	0.655000	0.94253	GAA		0.512	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		T	74046604	C	T	74046604	3	4	196	1	0	0	0	0	1	0	0	0	15158	835	29	2	933	2	SRP68	17	74046604	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	12160340	74046604	7148606	40	11339											
RNF157	114804	broad.mit.edu	37	17	74152374	74152374	+	Missense_Mutation	SNP	T	T	G	rs553918046		TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr17:74152374T>G	ENST00000269391.6	-	14	1574	c.1442A>C	c.(1441-1443)aAt>aCt	p.N481T	RNF157_ENST00000319945.6_Missense_Mutation_p.N481T|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000586661.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	481	Ser-rich.						zinc ion binding (GO:0008270)	p.N1084T(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CAAGGTGAGATTCTCACTTTC	0.562																																					GBM(186;507 2120 27388 27773 52994)											1	Substitution - Missense(1)	ovary(1)	17											113	99	104					17																	74152374		2203	4300	6503	71663969	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1442A>C	17.37:g.74152374T>G	ENSP00000269391:p.Asn481Thr		71663969	Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262672	0.80358	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.27104	1.69;1.79	5.05	5.05	0.67936	.	0.148834	0.64402	D	0.000015	T	0.45115	0.1326	L	0.50333	1.59	0.80722	D	1	D;P	0.71674	0.998;0.948	D;P	0.81914	0.995;0.652	T	0.36311	-0.9753	10	0.54805	T	0.06	-15.0217	14.9596	0.71147	0.0:0.0:0.0:1.0	.	481;481	Q96PX1-2;Q96PX1	.;RN157_HUMAN	T	481	ENSP00000269391:N481T;ENSP00000321837:N481T	ENSP00000269391:N481T	N	-	2	0	RNF157	71663969	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.513000	0.81739	2.113000	0.64589	0.460000	0.39030	AAT		0.562	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		G	74152374	T	G	74152374	3	3	196	1	0	0	0	0	1	0	0	0	13457	1493	52	5	621	5	RNF157	17	74152374	Missense_Mutation	SNP	T	TCGA-23-2079-01A-01W-0722-08	105770	74152374	7042836	41	11340											
ABCA7	10347	broad.mit.edu	37	19	1042357	1042357	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr19:1042357G>A	ENST00000263094.6	+	6	690	c.459G>A	c.(457-459)atG>atA	p.M153I	ABCA7_ENST00000435683.2_5'Flank|ABCA7_ENST00000433129.1_Missense_Mutation_p.M153I	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	153					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.M153I(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCACCCATGCTGGATGTCG	0.672																																																1	Substitution - Missense(1)	ovary(1)	19											75	71	72					19																	1042357		2203	4300	6503	993357	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.459G>A	19.37:g.1042357G>A	ENSP00000263094:p.Met153Ile		993357	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.705999	0.15172	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000433129	D;D;D	0.98221	-1.97;-4.8;-1.97	3.0	0.829	0.18847	.	.	.	.	.	D	0.92244	0.7540	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.0	D	0.85982	0.1483	9	0.27785	T	0.31	.	5.2006	0.15262	0.281:0.0:0.719:0.0	.	153;153	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	I	153	ENSP00000263094:M153I;ENSP00000431473:M153I;ENSP00000414062:M153I	ENSP00000263094:M153I	M	+	3	0	ABCA7	993357	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.759000	0.04761	0.309000	0.22966	-0.258000	0.10820	ATG		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1042357	G	A	1042357	3	1	196	1	0	0	0	0	1	0	0	0	37	1319	46	2	477	2	ABCA7	19	1042357	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08		1042357	58086626	42	11341											
TUBB4	10382	broad.mit.edu	37	19	6495339	6495339	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr19:6495339G>A	ENST00000264071.2	-	4	1542	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R391C			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	391					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R391C(1)									AAGGCCTTGCGCCGGAACATG	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											152	137	142					19																	6495339		2202	4280	6482	6446339	SO:0001583	missense	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1171C>T	19.37:g.6495339G>A	ENSP00000264071:p.Arg391Cys		6446339	B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862900	0.32884	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85861	-2.04;-2.04	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000001	D	0.94594	0.8258	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.96137	0.9097	10	0.87932	D	0	.	13.6752	0.62449	0.0:0.0:1.0:0.0	.	391	P04350	TBB4A_HUMAN	C	391;391;309	ENSP00000264071:R391C;ENSP00000443590:R391C	ENSP00000264071:R391C	R	-	1	0	TUBB4	6446339	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.690000	0.98676	1.473000	0.48159	0.306000	0.20318	CGC		0.612	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6495339	G	A	6495339	3	1	196	1	0	0	0	0	1	0	0	0	16758	1087	38	1	167	1	TUBB4	19	6495339	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08	5452982	6495339	52633644	43	11342											
MYLK2	85366	broad.mit.edu	37	20	30414648	30414648	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr20:30414648T>A	ENST00000375994.2	+	7	1404	c.1131T>A	c.(1129-1131)caT>caA	p.H377Q	MYLK2_ENST00000375985.4_Missense_Mutation_p.H377Q|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.H377Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGACTACCATCTGACCGAGG	0.577																																																1	Substitution - Missense(1)	ovary(1)	20											152	120	131					20																	30414648		2203	4300	6503	29878309	SO:0001583	missense	85366			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1131T>A	20.37:g.30414648T>A	ENSP00000365162:p.His377Gln		29878309	Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	T	4.641	0.119210	0.08881	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.38887	1.11;1.11	3.66	-7.31	0.01441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.18002	0.0432	N	0.17800	0.525	0.19300	N	0.999976	B	0.02656	0.0	B	0.06405	0.002	T	0.25433	-1.0132	9	0.10111	T	0.7	.	4.5963	0.12330	0.0766:0.306:0.1356:0.4819	.	377	Q9H1R3	MYLK2_HUMAN	Q	377	ENSP00000365162:H377Q;ENSP00000365152:H377Q	ENSP00000365152:H377Q	H	+	3	2	MYLK2	29878309	0.000000	0.05858	0.281000	0.24762	0.953000	0.61014	-6.623000	0.00059	-2.183000	0.00763	-1.663000	0.00750	CAT		0.577	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		A	30414648	T	A	30414648	3	1	196	1	0	0	0	0	1	0	0	0	10057	1432	50	5	1157	5	MYLK2	20	30414648	Missense_Mutation	SNP	T	TCGA-23-2079-01A-01W-0722-08		30414648	32610872	44	11343											
C20orf71	128861	broad.mit.edu	37	20	31805447	31805447	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chr20:31805447C>A	ENST00000375454.3	+	1	315	c.105C>A	c.(103-105)gaC>gaA	p.D35E	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.D35E|RP11-49G10.3_ENST00000419613.1_RNA	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	35						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.D35E(1)									CCCACAGAGACAACAAATCCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											86	79	81					20																	31805447		2203	4300	6503	31269108	SO:0001583	missense	128861				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"BPI fold containing"	16204	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 71"	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.105C>A	20.37:g.31805447C>A	ENSP00000364603:p.Asp35Glu		31269108	Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	C	3.848	-0.032516	0.07543	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.41400	1.0;1.17	4.36	-0.0074	0.14009	.	0.494508	0.17292	N	0.179589	T	0.25121	0.0610	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.15052	0.006;0.012	T	0.21655	-1.0239	10	0.87932	D	0	-8.8923	8.153	0.31152	0.0:0.3135:0.5825:0.104	.	35;35	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	E	35	ENSP00000364603:D35E;ENSP00000364601:D35E	ENSP00000364601:D35E	D	+	3	2	BPIFA3	31269108	0.529000	0.26322	0.011000	0.14972	0.070000	0.16714	0.183000	0.16919	0.042000	0.15717	-0.150000	0.13652	GAC		0.622	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		A	31805447	C	A	31805447	3	1	196	1	0	0	0	0	1	0	0	0	2117	477	17	3	107	3	C20orf71	20	31805447	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08	1390799	31805447	31220073	45	11344											
FAM47A	158724	broad.mit.edu	37	X	34150181	34150181	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chrX:34150181C>T	ENST00000346193.3	-	1	266	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	72								p.R72H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCGTCACGGCGACAAACGAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											89	84	86					X																	34150181		2202	4300	6502	34060102	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.215G>A	X.37:g.34150181C>T	ENSP00000345029:p.Arg72His		34060102	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	3.358	-0.131099	0.06753	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	1.17	1.17	0.20885	.	.	.	.	.	T	0.13415	0.0325	L	0.57536	1.79	0.09310	N	1	P	0.38280	0.625	B	0.24974	0.057	T	0.18023	-1.0350	9	0.14252	T	0.57	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	72	Q5JRC9	FA47A_HUMAN	H	72	ENSP00000345029:R72H	ENSP00000345029:R72H	R	-	2	0	FAM47A	34060102	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.184000	0.09698	0.880000	0.35969	0.544000	0.68410	CGC		0.537	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34150181	C	T	34150181	3	4	196	1	0	0	0	0	1	0	0	0	5569	768	27	1	2164	1	FAM47A	23	34150181	Missense_Mutation	SNP	C	TCGA-23-2079-01A-01W-0722-08		34150181	121120379	46	11345											
H2BFWT	158983	broad.mit.edu	37	X	103268205	103268205	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chrX:103268205G>T	ENST00000217926.5	-	1	54	c.28C>A	c.(28-30)Ccc>Acc	p.P10T	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	10						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P10T(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GTGGACCGGGGAAGCCGGGGC	0.602																																																1	Substitution - Missense(1)	ovary(1)	X											35	30	31					X																	103268205		2203	4299	6502	103154861	SO:0001583	missense	158983			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"Histones / Replication-independent"	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.28C>A	X.37:g.103268205G>T	ENSP00000354723:p.Pro10Thr		103154861	B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	6.533	0.466650	0.12402	.	.	ENSG00000123569	ENST00000217926	T	0.27720	1.65	2.33	0.381	0.16228	.	.	.	.	.	T	0.18882	0.0453	N	0.19112	0.55	0.09310	N	1	B	0.26081	0.141	B	0.24394	0.053	T	0.22173	-1.0224	9	0.72032	D	0.01	.	8.175	0.31276	0.0:0.4927:0.5073:0.0	.	10	Q7Z2G1	H2BWT_HUMAN	T	10	ENSP00000354723:P10T	ENSP00000354723:P10T	P	-	1	0	H2BFWT	103154861	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-0.185000	0.09684	-0.013000	0.14199	-0.268000	0.10319	CCC		0.602	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		T	103268205	G	T	103268205	3	4	196	1	0	0	0	0	1	0	0	0	6932	1174	41	3	507	3	H2BFWT	23	103268205	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08	69118024	103268205	52002355	47	11346											
ARHGAP36	158763	broad.mit.edu	37	X	130218611	130218611	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2079-01A-01W-0722-08	TCGA-23-2079-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8b073aec-a2de-41e8-ba03-8cdcff477913	1378eaa0-b775-4874-82e3-b665f36d9ae8	g.chrX:130218611G>A	ENST00000276211.5	+	6	1105	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.V118M|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V242M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	254	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.V254M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTTAAGCGCAGTGGGGATTTT	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											187	164	172					X																	130218611		2203	4300	6503	130046292	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.760G>A	X.37:g.130218611G>A	ENSP00000276211:p.Val254Met		130046292	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305278	0.40795	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.99	3.04	0.35103	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.47455	D	0.000239	T	0.57125	0.2032	M	0.86953	2.85	0.44719	D	0.997712	P;P;P	0.51147	0.928;0.928;0.942	P;P;P	0.55222	0.66;0.66;0.771	T	0.60306	-0.7289	10	0.59425	D	0.04	.	6.5973	0.22681	0.0:0.1961:0.5974:0.2065	.	223;242;254	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	M	254;242;206;223;118	ENSP00000276211:V254M;ENSP00000359960:V242M;ENSP00000409218:V206M;ENSP00000408515:V223M;ENSP00000359959:V118M	ENSP00000276211:V254M	V	+	1	0	ARHGAP36	130046292	1.000000	0.71417	0.919000	0.36401	0.104000	0.19210	5.837000	0.69381	1.178000	0.42870	0.529000	0.55759	GTG		0.488	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		A	130218611	G	A	130218611	3	1	196	1	0	0	0	0	1	0	0	0	883	1029	36	2	778	2	ARHGAP36	23	130218611	Missense_Mutation	SNP	G	TCGA-23-2079-01A-01W-0722-08	26950406	130218611	25051949	48	11347											
C1orf146	388649	broad.mit.edu	37	1	92711188	92711218	+	Frame_Shift_Del	DEL	TTCAGAAGATAAAACTGAATAGTGATTCAGT	TTCAGAAGATAAAACTGAATAGTGATTCAGT	-	rs113770627		TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	TTCAGAAGATAAAACTGAATAGTGATTCAGT	TTCAGAAGATAAAACTGAATAGTGATTCAGT	-	-	TTCAGAAGATAAAACTGAATAGTGATTCAGT	TTCAGAAGATAAAACTGAATAGTGATTCAGT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr1:92711188_92711218delTTCAGAAGATAAAACTGAATAGTGATTCAGT	ENST00000370375.3	+	6	648_678	c.500_530delTTCAGAAGATAAAACTGAATAGTGATTCAGT	c.(499-531)cttcagaagataaaactgaatagtgattcagttfs	p.LQKIKLNSDSV167fs	C1orf146_ENST00000370373.2_Frame_Shift_Del_p.LQKIKLNSDSV108fs	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	167								p.Q168fs>3(1)|p.K169R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TGGAAAACACTTCAGAAGATAAAACTGAATAGTGATTCAGTTAACCCAAAT	0.303																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|kidney(1)	1																																								92483806	SO:0001589	frameshift_variant	388649				CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.500_530delTTCAGAAGATAAAACTGAATAGTGATTCAGT	1.37:g.92711188_92711218delTTCAGAAGATAAAACTGAATAGTGATTCAGT	ENSP00000359401:p.Leu167fs		92483776	Q5VVC4	Frame_Shift_Del	DEL	ENST00000370375.3	37	CCDS30772.1																																																																																				0.303	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		-	92711218	TTCAGAAGATAAAACTGAATAGTGATTCAGT	-	92711188	7	5	197	1	0	1	0	1	0	0	0	0	2003	1609	56	0	518	0	C1orf146	1	92711188	Frame_Shift_Del	DEL	TTCAGAAGATAAAACTGAATAGTGATTCAGT	TCGA-23-2081-01A-01W-0722-08		92711188	156539433	1	11348											
HSD3B1	3283	broad.mit.edu	37	1	120056873	120056873	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr1:120056873C>A	ENST00000369413.3	+	4	872	c.727C>A	c.(727-729)Ccc>Acc	p.P243T	HSD3B1_ENST00000235547.6_Missense_Mutation_p.P245T|HSD3B1_ENST00000528909.1_Missense_Mutation_p.P243T			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	243					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.P243T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CCTGCAGGACCCCAAGAAGGC	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											60	65	63					1																	120056873		2203	4300	6503	119858396	SO:0001583	missense	3283			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.727C>A	1.37:g.120056873C>A	ENSP00000358421:p.Pro243Thr		119858396	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123875	0.37436	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.85088	-1.94;-1.94;-1.94	3.26	1.33	0.21861	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.173944	0.51477	D	0.000099	D	0.84266	0.5434	M	0.74258	2.255	0.39922	D	0.974179	P;D	0.53151	0.74;0.958	P;P	0.57846	0.491;0.828	D	0.83820	0.0246	10	0.72032	D	0.01	4.5762	6.8322	0.23917	0.0:0.7444:0.0:0.2556	.	245;243	Q5TDG2;P14060	.;3BHS1_HUMAN	T	243;245;243	ENSP00000358421:P243T;ENSP00000235547:P245T;ENSP00000432268:P243T	ENSP00000235547:P245T	P	+	1	0	HSD3B1	119858396	1.000000	0.71417	0.957000	0.39632	0.228000	0.25075	3.541000	0.53618	0.685000	0.31468	0.313000	0.20887	CCC		0.507	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		A	120056873	C	A	120056873	3	1	197	1	0	0	0	0	1	0	0	0	7390	623	22	3	737	3	HSD3B1	1	120056873	Missense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08	27345685	120056873	129193748	2	11349											
ETV3L	440695	broad.mit.edu	37	1	157069286	157069286	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr1:157069286G>C	ENST00000454449.2	-	1	314	c.30C>G	c.(28-30)atC>atG	p.I10M		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	10					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I10M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGTTGGCTGGGATGCCCTCAG	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											33	30	31					1																	157069286		2203	4300	6503	155335910	SO:0001583	missense	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.30C>G	1.37:g.157069286G>C	ENSP00000430271:p.Ile10Met		155335910		Missense_Mutation	SNP	ENST00000454449.2	37	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510542	0.27036	.	.	ENSG00000253831	ENST00000454449	T	0.09073	3.02	5.16	0.926	0.19430	.	1.858080	0.03241	N	0.180424	T	0.01454	0.0047	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.44483	-0.9325	10	0.30078	T	0.28	.	1.0729	0.01625	0.1762:0.1508:0.3617:0.3113	.	10	Q6ZN32	ETV3L_HUMAN	M	10	ENSP00000430271:I10M	ENSP00000430271:I10M	I	-	3	3	ETV3L	155335910	0.009000	0.17119	0.015000	0.15790	0.036000	0.12997	0.212000	0.17497	0.666000	0.31087	0.655000	0.94253	ATC		0.637	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		C	157069286	G	C	157069286	3	2	197	1	0	0	0	0	1	0	0	0	5280	1164	41	3	1075	3	ETV3L	1	157069286	Missense_Mutation	SNP	G	TCGA-23-2081-01A-01W-0722-08	37012413	157069286	92181335	3	11350											
OR10J5	127385	broad.mit.edu	37	1	159505434	159505434	+	Missense_Mutation	SNP	G	G	A	rs373445383		TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr1:159505434G>A	ENST00000334857.2	-	1	408	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122C(2)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GCCACATAGCGGTCATACCCC	0.478																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	1											121	102	108					1																	159505434		2203	4300	6503	157772058	SO:0001583	missense	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.364C>T	1.37:g.159505434G>A	ENSP00000334441:p.Arg122Cys		157772058	B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	G	4.834	0.154959	0.09236	.	.	ENSG00000184155	ENST00000334857	T	0.77358	-1.09	4.13	-6.71	0.01760	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.58323	0.2114	M	0.89968	3.075	0.41428	D	0.987848	P	0.35684	0.515	B	0.27715	0.082	T	0.53989	-0.8360	9	0.72032	D	0.01	.	4.5851	0.12279	0.3824:0.0:0.3066:0.311	.	122	Q8NHC4	O10J5_HUMAN	C	122	ENSP00000334441:R122C	ENSP00000334441:R122C	R	-	1	0	OR10J5	157772058	0.932000	0.31603	0.076000	0.20297	0.002000	0.02628	0.437000	0.21543	-1.738000	0.01348	-1.314000	0.01303	CGC		0.478	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		A	159505434	G	A	159505434	3	1	197	1	0	0	0	0	1	0	0	0	10912	1116	39	1	567	1	OR10J5	1	159505434	Missense_Mutation	SNP	G	TCGA-23-2081-01A-01W-0722-08	2436148	159505434	89745187	4	11351											
FCGR3A	2214	broad.mit.edu	37	1	161514546	161514546	+	Silent	SNP	C	C	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr1:161514546C>T	ENST00000436743.1	-	5	676	c.522G>A	c.(520-522)ggG>ggA	p.G174G	FCGR3A_ENST00000540048.1_Silent_p.G174G|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000443193.1_Silent_p.G209G|FCGR3A_ENST00000367969.3_Silent_p.G210G	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	174	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G210G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCCAAAAAGCCCCCTGCAGA	0.468																																																1	Substitution - coding silent(1)	ovary(1)	1											78	79	79					1																	161514546		2203	4300	6503	159781170	SO:0001819	synonymous_variant	2214			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.522G>A	1.37:g.161514546C>T			159781170	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000436743.1	37	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	C	2.989	-0.208527	0.06140	.	.	ENSG00000203747	ENST00000426740	T	0.13778	2.56	4.71	-8.43	0.00953	.	0.286200	0.24620	N	0.036978	T	0.04048	0.0113	.	.	.	0.21386	N	0.999708	.	.	.	.	.	.	T	0.09574	-1.0668	7	0.87932	D	0	.	4.6627	0.12650	0.1773:0.248:0.4412:0.1335	.	.	.	.	D	191	ENSP00000410180:G191D	ENSP00000410180:G191D	G	-	2	0	FCGR3A	159781170	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.894000	0.00707	-2.008000	0.00955	-2.689000	0.00140	GGC		0.468	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		T	161514546	C	T	161514546	2	4	197	1	0	0	0	0	0	0	0	1	5784	726	26	2		2	FCGR3A	1	161514546	Silent	SNP	C	TCGA-23-2081-01A-01W-0722-08	2009112	161514546	87736075	5	11352											
SULT6B1	391365	broad.mit.edu	37	2	37415665	37415665	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr2:37415665C>T	ENST00000535679.1	-	1	118	c.119G>A	c.(118-120)tGc>tAc	p.C40Y	SULT6B1_ENST00000260637.3_Missense_Mutation_p.C2Y|SULT6B1_ENST00000407963.1_Missense_Mutation_p.C2Y|SULT6B1_ENST00000379149.2_Missense_Mutation_p.C40Y			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	40						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)	p.C2Y(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TTCTGAGGTGCACATGGTGAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											175	154	161					2																	37415665		2203	4300	6503	37269169	SO:0001583	missense	391365			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.119G>A	2.37:g.37415665C>T	ENSP00000444081:p.Cys40Tyr		37269169	B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37		.	.	.	.	.	.	.	.	.	.	C	14.13	2.442421	0.43326	.	.	ENSG00000138068	ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963;ENST00000433192;ENST00000416345;ENST00000420611	T;T;T;T	0.02606	4.98;4.23;4.79;4.79	4.39	4.39	0.52855	.	0.111661	0.64402	D	0.000007	T	0.05731	0.0150	N	0.08118	0	0.51482	D	0.999923	D	0.89917	1.0	D	0.77557	0.99	T	0.56456	-0.7976	10	0.87932	D	0	.	14.4965	0.67691	0.0:1.0:0.0:0.0	.	40	Q6IMI4	ST6B1_HUMAN	Y	40;40;2;2;2;2;2	ENSP00000444081:C40Y;ENSP00000368444:C40Y;ENSP00000260637:C2Y;ENSP00000384950:C2Y	ENSP00000260637:C2Y	C	-	2	0	SULT6B1	37269169	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	4.776000	0.62354	2.277000	0.76020	0.655000	0.94253	TGC		0.418	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		T	37415665	C	T	37415665	3	4	197	1	0	0	0	0	1	0	0	0	15384	710	25	2	820	2	SULT6B1	2	37415665	Missense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08		37415665	205783708	6	11353											
FAM82A1	151393	broad.mit.edu	37	2	38179075	38179075	+	Intron	SNP	C	C	A			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr2:38179075C>A	ENST00000406384.1	+	3	646				RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000402091.3_Silent_p.G239G|RMDN2_ENST00000234195.3_Silent_p.G239G|RMDN2_ENST00000407257.1_Silent_p.G239G	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.G239G(1)									AACAAAGGGGCCAATTATGTA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	2											120	120	120					2																	38179075		2203	4299	6502	38032579	SO:0001627	intron_variant	151393			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.453-22108C>A	2.37:g.38179075C>A			38032579	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Silent	SNP	ENST00000406384.1	37	CCDS54351.1																																																																																				0.398	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		A	38179075	C	A	38179075	1	1	197	0	1	0	0	0	0	0	0	0	5630	726	26	3		3	FAM82A1	2	38179075	Intron	SNP	C	TCGA-23-2081-01A-01W-0722-08	763410	38179075	205020298	7	11354											
C2orf29	55571	broad.mit.edu	37	2	101869724	101869724	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr2:101869724G>C	ENST00000289382.3	+	1	461	c.298G>C	c.(298-300)Gac>Cac	p.D100H	TBC1D8_ENST00000462819.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	100					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.D100H(1)									CAGCAAGGCCGACCACTTCCG	0.682																																																1	Substitution - Missense(1)	ovary(1)	2											19	19	19					2																	101869724		2193	4294	6487	101236156	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.298G>C	2.37:g.101869724G>C	ENSP00000289382:p.Asp100His		101236156	Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493929	0.84962	.	.	ENSG00000158435	ENST00000289382	.	.	.	4.68	3.8	0.43715	.	0.112601	0.64402	D	0.000011	T	0.55401	0.1918	M	0.61703	1.905	0.54753	D	0.999985	P	0.47350	0.894	B	0.42062	0.374	T	0.60058	-0.7337	9	0.56958	D	0.05	-9.4268	12.7871	0.57512	0.0801:0.0:0.9199:0.0	.	100	Q9UKZ1	CB029_HUMAN	H	100	.	ENSP00000289382:D100H	D	+	1	0	C2orf29	101236156	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.973000	0.76116	0.976000	0.38417	0.585000	0.79938	GAC		0.682	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		C	101869724	G	C	101869724	3	2	197	1	0	0	0	0	1	0	0	0	2161	1058	37	3	300	3	C2orf29	2	101869724	Missense_Mutation	SNP	G	TCGA-23-2081-01A-01W-0722-08	63690649	101869724	141329649	8	11355											
GTF3C3	9330	broad.mit.edu	37	2	197639861	197639861	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr2:197639861A>G	ENST00000263956.3	-	13	1899	c.1810T>C	c.(1810-1812)Tca>Cca	p.S604P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	604					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.S604P(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAATTTGCTGACTCTTGGTCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											122	112	116					2																	197639861		2203	4300	6503	197348106	SO:0001583	missense	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1810T>C	2.37:g.197639861A>G	ENSP00000263956:p.Ser604Pro		197348106	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.201250	0.38905	.	.	ENSG00000119041	ENST00000263956;ENST00000435252	T	0.46063	0.88	5.2	-0.157	0.13387	.	0.603581	0.17834	N	0.160419	T	0.17577	0.0422	N	0.08118	0	0.80722	D	1	B	0.15141	0.012	B	0.12837	0.008	T	0.04781	-1.0927	10	0.31617	T	0.26	-9.1329	3.8957	0.09138	0.3848:0.202:0.0:0.4132	.	604	Q9Y5Q9	TF3C3_HUMAN	P	604;127	ENSP00000263956:S604P	ENSP00000263956:S604P	S	-	1	0	GTF3C3	197348106	0.957000	0.32711	0.996000	0.52242	0.993000	0.82548	-0.049000	0.11924	-0.165000	0.10908	-0.339000	0.08088	TCA		0.348	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			G	197639861	A	G	197639861	3	3	197	1	0	0	0	0	1	0	0	0	6874	275	10	4	874	4	GTF3C3	2	197639861	Missense_Mutation	SNP	A	TCGA-23-2081-01A-01W-0722-08	95770137	197639861	45559512	9	11356											
CACNA1D	776	broad.mit.edu	37	3	53835308	53835308	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr3:53835308A>C	ENST00000350061.5	+	42	5775	c.5264A>C	c.(5263-5265)aAt>aCt	p.N1755T	CACNA1D_ENST00000288139.4_Missense_Mutation_p.N1775T|CACNA1D_ENST00000544977.1_Missense_Mutation_p.N134T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.N1740T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1755					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.N1775T(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTCAACAAATGCCAATCTC	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											86	76	79					3																	53835308		2203	4300	6503	53810348	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5264A>C	3.37:g.53835308A>C	ENSP00000288133:p.Asn1755Thr		53810348	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609812	0.66558	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	D;D;D;D	0.96967	-4.14;-4.19;-4.16;-4.18	4.3	4.3	0.51218	.	2.053350	0.02459	N	0.086371	D	0.96097	0.8728	M	0.71206	2.165	0.53688	D	0.999979	B;B;B;B	0.21520	0.006;0.009;0.005;0.057	B;B;B;B	0.26310	0.014;0.027;0.017;0.068	T	0.77341	-0.2624	10	0.19590	T	0.45	.	14.1545	0.65407	1.0:0.0:0.0:0.0	.	1740;1448;1755;1775	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	1755;1775;1740;1448;134	ENSP00000288133:N1755T;ENSP00000288139:N1775T;ENSP00000409174:N1740T;ENSP00000418014:N1448T	ENSP00000288139:N1775T	N	+	2	0	CACNA1D	53810348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.567000	0.90737	1.892000	0.54788	0.379000	0.24179	AAT		0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		C	53835308	A	C	53835308	3	2	197	1	0	0	0	0	1	0	0	0	2541	101	4	5	5602	5	CACNA1D	3	53835308	Missense_Mutation	SNP	A	TCGA-23-2081-01A-01W-0722-08		53835308	144187122	10	11357											
CNTN3	5067	broad.mit.edu	37	3	74347174	74347174	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr3:74347174C>G	ENST00000263665.6	-	17	2362	c.2335G>C	c.(2335-2337)Ggt>Cgt	p.G779R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	779	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G779R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTATAAACACCCACTTTAACT	0.433																																																1	Substitution - Missense(1)	ovary(1)	3											146	143	144					3																	74347174		2203	4300	6503	74429864	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2335G>C	3.37:g.74347174C>G	ENSP00000263665:p.Gly779Arg		74429864	B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318722	0.81469	.	.	ENSG00000113805	ENST00000263665	T	0.54479	0.57	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	L	0.60067	1.865	0.80722	D	1	D	0.56287	0.975	P	0.62014	0.897	T	0.56619	-0.7949	10	0.07644	T	0.81	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	779	Q9P232	CNTN3_HUMAN	R	779	ENSP00000263665:G779R	ENSP00000263665:G779R	G	-	1	0	CNTN3	74429864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.207000	0.77899	2.793000	0.96121	0.655000	0.94253	GGT		0.433	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		G	74347174	C	G	74347174	3	3	197	1	0	0	0	0	1	0	0	0	3642	623	22	3	775	3	CNTN3	3	74347174	Missense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08	20511866	74347174	123675256	11	11358											
NOP16	51491	broad.mit.edu	37	5	175811237	175811237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr5:175811237C>A	ENST00000389158.5	-	5	967	c.532G>T	c.(532-534)Gag>Tag	p.E178*	NOP16_ENST00000507413.1_Missense_Mutation_p.G53V|NOP16_ENST00000510123.1_Missense_Mutation_p.W147C			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	178				E -> D (in Ref. 5; CAG33450). {ECO:0000305}.		intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E178*(1)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						ACCAGTCACTCCACCTCCATC	0.542																																																1	Substitution - Nonsense(1)	ovary(1)	5											125	125	125					5																	175811237		2005	4170	6175	175743843	SO:0001587	stop_gained	51491				CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"hypothetical protein HSPC111", "HBV pre-S2 trans-regulated protein 3"	612861	"nucleolar protein 16 homolog (yeast)", "NOP16 nucleolar protein homolog (yeast)"			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.532G>T	5.37:g.175811237C>A	ENSP00000373810:p.Glu178*		175743843	B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Nonsense_Mutation	SNP	ENST00000389158.5	37	CCDS43403.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.9|23.9|23.9	4.468459|4.468459|4.468459	0.84533|0.84533|0.84533	.|.|.	.|.|.	ENSG00000048162|ENSG00000048162|ENSG00000048162	ENST00000389158|ENST00000507413|ENST00000510123;ENST00000341213;ENST00000451293	.|.|.	.|.|.	.|.|.	5.35|5.35|5.35	5.35|5.35|5.35	0.76521|0.76521|0.76521	.|.|.	.|.|1.372080	.|.|0.04917	.|.|N	.|.|0.454227	.|T|T	.|0.61160|0.61160	.|0.2325|0.2325	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B	.|.|0.02656	.|.|0.0;0.0	.|.|B;B	.|.|0.04013	.|.|0.001;0.001	.|T|T	.|0.32851|0.32851	.|-0.9891|-0.9891	.|5|8	0.59425|0.87932|0.87932	D|D|D	0.04|0|0	-0.2478|-0.2478|-0.2478	15.3537|15.3537|15.3537	0.74412|0.74412|0.74412	0.0:0.8233:0.1767:0.0|0.0:0.8233:0.1767:0.0|0.0:0.8233:0.1767:0.0	.|.|.	.|.|148;147	.|.|Q6PIM0;D6RGD3	.|.|.;.	X|V|C	178|53|147;152;148	.|.|.	ENSP00000373810:E178X|ENSP00000426392:G53V|ENSP00000340662:W152C	E|G|W	-|-|-	1|2|3	0|0|0	NOP16|NOP16|NOP16	175743843|175743843|175743843	0.943000|0.943000|0.943000	0.32029|0.32029|0.32029	0.542000|0.542000|0.542000	0.28115|0.28115|0.28115	0.048000|0.048000|0.048000	0.14542|0.14542|0.14542	2.019000|2.019000|2.019000	0.41001|0.41001|0.41001	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|TGG		0.542	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		A	175811237	C	A	175811237	4	1	197	1	0	0	0	0	0	1	0	0	10537	864	30	3	7	3	NOP16	5	175811237	Nonsense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08		175811237	5104023	12	11359											
DDX43	55510	broad.mit.edu	37	6	74125223	74125223	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr6:74125223G>C	ENST00000370336.4	+	15	1907	c.1749G>C	c.(1747-1749)agG>agC	p.R583S	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	583	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.R583S(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACTAAAGGAGGACTGGTGTTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	6											121	120	121					6																	74125223		2203	4300	6503	74181944	SO:0001583	missense	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1749G>C	6.37:g.74125223G>C	ENSP00000359361:p.Arg583Ser		74181944	B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125295	0.37533	.	.	ENSG00000080007	ENST00000370336	T	0.05199	3.48	4.66	-9.31	0.00646	Helicase, C-terminal (1);	0.214449	0.42682	D	0.000661	T	0.01523	0.0049	L	0.59436	1.845	0.19945	N	0.999945	P	0.36753	0.568	B	0.39840	0.311	T	0.12319	-1.0552	10	0.41790	T	0.15	-12.3005	1.2294	0.01940	0.3439:0.3147:0.1054:0.236	.	583	Q9NXZ2	DDX43_HUMAN	S	583	ENSP00000359361:R583S	ENSP00000359361:R583S	R	+	3	2	DDX43	74181944	0.034000	0.19679	0.009000	0.14445	0.218000	0.24690	-1.185000	0.03073	-1.611000	0.01581	-0.367000	0.07326	AGG		0.343	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		C	74125223	G	C	74125223	3	2	197	1	0	0	0	0	1	0	0	0	4363	1165	41	3	1807	3	DDX43	6	74125223	Missense_Mutation	SNP	G	TCGA-23-2081-01A-01W-0722-08		74125223	96989844	13	11360											
COL12A1	1303	broad.mit.edu	37	6	75838022	75838022	+	Silent	SNP	A	A	G			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr6:75838022A>G	ENST00000322507.8	-	38	6639	c.6330T>C	c.(6328-6330)aaT>aaC	p.N2110N	COL12A1_ENST00000483888.2_Silent_p.N2110N|COL12A1_ENST00000345356.6_Silent_p.N946N|COL12A1_ENST00000416123.2_Silent_p.N2110N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2110	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.N2110N(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGTTCTTCCATTTCCTGTTA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	6											141	139	140					6																	75838022		1864	4096	5960	75894742	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6330T>C	6.37:g.75838022A>G			75894742	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																				0.338	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		G	75838022	A	G	75838022	2	3	197	1	0	0	0	0	0	0	0	1	3669	214	8	4		4	COL12A1	6	75838022	Silent	SNP	A	TCGA-23-2081-01A-01W-0722-08	1712799	75838022	95277045	14	11361											
LTV1	84946	broad.mit.edu	37	6	144171287	144171287	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr6:144171287C>A	ENST00000367576.5	+	4	463	c.329C>A	c.(328-330)cCt>cAt	p.P110H		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	110						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P110H(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ATTAAGTTGCCTTCATCAGTG	0.363																																																1	Substitution - Missense(1)	ovary(1)	6											174	172	173					6																	144171287		2203	4300	6503	144212980	SO:0001583	missense	84946			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 93", "LTV1 homolog (S. cerevisiae)"	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.329C>A	6.37:g.144171287C>A	ENSP00000356548:p.Pro110His		144212980	Q96JX8	Missense_Mutation	SNP	ENST00000367576.5	37	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609924	0.87258	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.84651	0.5519	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85683	0.1302	9	0.52906	T	0.07	.	20.0246	0.97519	0.0:1.0:0.0:0.0	.	110	Q96GA3	LTV1_HUMAN	H	110	.	ENSP00000356548:P110H	P	+	2	0	LTV1	144212980	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.146000	0.77373	2.810000	0.96702	0.650000	0.86243	CCT		0.363	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		A	144171287	C	A	144171287	3	1	197	1	0	0	0	0	1	0	0	0	9081	681	24	3	343	3	LTV1	6	144171287	Missense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08	68333265	144171287	26943780	15	11362											
ZNF479	90827	broad.mit.edu	37	7	57188623	57188623	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr7:57188623C>G	ENST00000331162.4	-	5	769	c.499G>C	c.(499-501)Ggt>Cgt	p.G167R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G167R(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GAAAATTTACCAAAGACTTTG	0.303																																																1	Substitution - Missense(1)	ovary(1)	7											31	30	30					7																	57188623		1817	4072	5889	57192565	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.499G>C	7.37:g.57188623C>G	ENSP00000333776:p.Gly167Arg		57192565		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	7.910	0.736204	0.15574	.	.	ENSG00000185177	ENST00000331162	T	0.35605	1.3	0.946	-1.53	0.08611	.	.	.	.	.	T	0.24586	0.0596	N	0.13299	0.325	0.09310	N	1	D	0.53619	0.961	P	0.52758	0.708	T	0.12502	-1.0545	9	0.25106	T	0.35	.	3.2658	0.06864	0.0:0.3727:0.0:0.6273	.	167	Q96JC4	ZN479_HUMAN	R	167	ENSP00000333776:G167R	ENSP00000333776:G167R	G	-	1	0	ZNF479	57192565	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.022000	0.01439	-0.503000	0.06586	-0.498000	0.04607	GGT		0.303	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		G	57188623	C	G	57188623	3	3	197	1	0	0	0	0	1	0	0	0	17933	594	21	3	1079	3	ZNF479	7	57188623	Missense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08		57188623	101950040	16	11363											
MUC17	140453	broad.mit.edu	37	7	100675089	100675089	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr7:100675089G>C	ENST00000306151.4	+	3	456	c.392G>C	c.(391-393)aGt>aCt	p.S131T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	131	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S131T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTTCCCCAGTTCTACTGAA	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											170	157	161					7																	100675089		2203	4300	6503	100461809	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.392G>C	7.37:g.100675089G>C	ENSP00000302716:p.Ser131Thr		100461809	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.372	-0.933520	0.02359	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	0.801	-1.6	0.08426	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47209	-0.9135	9	0.02654	T	1	.	2.3631	0.04312	0.0:0.3651:0.3416:0.2933	.	131	Q685J3	MUC17_HUMAN	T	131	ENSP00000302716:S131T	ENSP00000302716:S131T	S	+	2	0	MUC17	100461809	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.526000	0.02229	-0.811000	0.04369	0.196000	0.17591	AGT		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100675089	G	C	100675089	3	2	197	1	0	0	0	0	1	0	0	0	9974	1029	36	3	402	3	MUC17	7	100675089	Missense_Mutation	SNP	G	TCGA-23-2081-01A-01W-0722-08	43486466	100675089	58463574	17	11364											
FAM180A	389558	broad.mit.edu	37	7	135418866	135418866	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr7:135418866C>T	ENST00000338588.3	-	3	644	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	FAM180A_ENST00000415751.1_Missense_Mutation_p.V127M|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	127						extracellular region (GO:0005576)		p.V127M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						AGGGTCAGCACTGTCCTTTCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	7											146	121	129					7																	135418866		2203	4300	6503	135069406	SO:0001583	missense	389558			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.379G>A	7.37:g.135418866C>T	ENSP00000342336:p.Val127Met		135069406	B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760365	0.49468	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.37235	1.21;1.21	5.65	4.76	0.60689	.	0.403185	0.27340	N	0.019801	T	0.33876	0.0878	L	0.46157	1.445	0.23978	N	0.996286	P	0.46220	0.874	B	0.44224	0.444	T	0.27872	-1.0061	10	0.66056	D	0.02	-10.2304	8.5212	0.33277	0.0:0.7647:0.1529:0.0824	.	127	Q6UWF9	F180A_HUMAN	M	127	ENSP00000342336:V127M;ENSP00000395467:V127M	ENSP00000342336:V127M	V	-	1	0	FAM180A	135069406	0.132000	0.22450	0.990000	0.47175	0.861000	0.49209	1.821000	0.39041	1.371000	0.46172	0.561000	0.74099	GTG		0.607	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		T	135418866	C	T	135418866	3	4	197	1	0	0	0	0	1	0	0	0	5507	565	20	2	146	2	FAM180A	7	135418866	Missense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08	34743777	135418866	23719797	18	11365											
NPBWR1	2831	broad.mit.edu	37	8	53853430	53853430	+	Silent	SNP	G	G	A			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr8:53853430G>A	ENST00000331251.3	+	1	2440	c.963G>A	c.(961-963)ctG>ctA	p.L321L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	321					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.L321L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TCCGCCAGCTGATAACTTGCC	0.672																																																1	Substitution - coding silent(1)	ovary(1)	8											18	19	19					8																	53853430		2181	4262	6443	54015983	SO:0001819	synonymous_variant	2831			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.963G>A	8.37:g.53853430G>A			54015983	Q6NTC7	Silent	SNP	ENST00000331251.3	37	CCDS6151.1																																																																																				0.672	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		A	53853430	G	A	53853430	2	1	197	1	0	0	0	0	0	0	0	1	10568	1277	45	2		2	NPBWR1	8	53853430	Silent	SNP	G	TCGA-23-2081-01A-01W-0722-08		53853430	92510592	19	11366											
WDYHV1	55093	broad.mit.edu	37	8	124448697	124448697	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr8:124448697A>T	ENST00000287387.2	+	4	364	c.239A>T	c.(238-240)tAc>tTc	p.Y80F	WDYHV1_ENST00000523984.1_Missense_Mutation_p.Y20F|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.Y80F|WDYHV1_ENST00000518125.1_Intron	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	80					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)	p.Y80F(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TTTTAGGATTACCATGTTGTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	8											163	135	145					8																	124448697		2203	4300	6503	124517878	SO:0001583	missense	55093			AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 32"	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.239A>T	8.37:g.124448697A>T	ENSP00000287387:p.Tyr80Phe		124517878	B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863598	0.71949	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000523356	T;T;T	0.38401	1.14;1.14;1.14	5.63	4.44	0.53790	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.060978	0.64402	D	0.000002	T	0.66528	0.2798	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72811	-0.4180	10	0.62326	D	0.03	-22.0576	11.7866	0.52045	0.8525:0.1474:0.0:0.0	.	80	Q96HA8	NTAQ1_HUMAN	F	80;20;80	ENSP00000287387:Y80F;ENSP00000430427:Y20F;ENSP00000428615:Y80F	ENSP00000287387:Y80F	Y	+	2	0	WDYHV1	124517878	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.119000	0.77145	0.925000	0.37094	0.533000	0.62120	TAC		0.358	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		T	124448697	A	T	124448697	3	4	197	1	0	0	0	0	1	0	0	0	17343	391	14	5	253	5	WDYHV1	8	124448697	Missense_Mutation	SNP	A	TCGA-23-2081-01A-01W-0722-08	70595267	124448697	21915325	20	11367											
ANXA13	312	broad.mit.edu	37	8	124696890	124696890	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr8:124696890T>C	ENST00000419625.1	-	10	863	c.791A>G	c.(790-792)gAt>gGt	p.D264G	ANXA13_ENST00000262219.6_Missense_Mutation_p.D305G	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	264					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)	p.D305G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CGTCTCCTCATCGGTCCCCGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	8											190	148	162					8																	124696890		2203	4300	6503	124766071	SO:0001583	missense	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"Annexins"	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.791A>G	8.37:g.124696890T>C	ENSP00000390809:p.Asp264Gly		124766071	Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212626	0.79240	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.05447	3.44;3.44	5.62	5.62	0.85841	Annexin repeat, conserved site (1);	0.043123	0.85682	D	0.000000	T	0.31136	0.0787	H	0.95004	3.61	0.47183	D	0.999347	D;D	0.64830	0.994;0.992	P;P	0.58210	0.779;0.835	T	0.42899	-0.9424	10	0.66056	D	0.02	.	15.1018	0.72284	0.0:0.0:0.0:1.0	.	264;305	P27216;P27216-2	ANX13_HUMAN;.	G	305;264	ENSP00000262219:D305G;ENSP00000390809:D264G	ENSP00000262219:D305G	D	-	2	0	ANXA13	124766071	1.000000	0.71417	0.551000	0.28230	0.751000	0.42716	6.638000	0.74309	2.268000	0.75426	0.454000	0.30748	GAT		0.517	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		C	124696890	T	C	124696890	3	2	197	1	0	0	0	0	1	0	0	0	717	1435	50	4	167	4	ANXA13	8	124696890	Missense_Mutation	SNP	T	TCGA-23-2081-01A-01W-0722-08	248193	124696890	21667132	21	11368											
HKDC1	80201	broad.mit.edu	37	10	71008231	71008241	+	Frame_Shift_Del	DEL	TGTCCGCTTCC	TGTCCGCTTCC	-	rs202161330		TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	TGTCCGCTTCC	TGTCCGCTTCC	-	-	TGTCCGCTTCC	TGTCCGCTTCC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr10:71008231_71008241delTGTCCGCTTCC	ENST00000354624.5	+	10	1450_1460	c.1317_1327delTGTCCGCTTCC	c.(1315-1329)gatgtccgcttcctcfs	p.VRFL440fs	HKDC1_ENST00000395086.2_Frame_Shift_Del_p.VRFL440fs|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	440	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAAGCTGTGATGTCCGCTTCCTCCTGTCAGA	0.592																																																1	Deletion - Frameshift(1)	ovary(1)	10																																								70678247	SO:0001589	frameshift_variant	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1317_1327delTGTCCGCTTCC	10.37:g.71008231_71008241delTGTCCGCTTCC	ENSP00000346643:p.Val440fs		70678237	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Frame_Shift_Del	DEL	ENST00000354624.5	37	CCDS7288.1																																																																																				0.592	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		-	71008241	TGTCCGCTTCC	-	71008231	7	5	197	1	0	1	0	1	0	0	0	0	7193	1461	51	0	1355	0	HKDC1	10	71008231	Frame_Shift_Del	DEL	TGTCCGCTTCC	TCGA-23-2081-01A-01W-0722-08		71008231	64526516	22	11369											
CDH23	64072	broad.mit.edu	37	10	73562832	73562832	+	Splice_Site	SNP	G	G	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr10:73562832G>T	ENST00000224721.6	+	53	7680	c.7675G>T	c.(7675-7677)Gag>Tag	p.E2559*	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Splice_Site_p.E314*	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2554	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.E2559*(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCTGGCGTGGGTATGTGGCC	0.617																																																1	Substitution - Nonsense(1)	ovary(1)	10	GRCh37	CM063888	CDH23	M							70	74	73					10																	73562832		1984	4155	6139	73232838	SO:0001630	splice_region_variant	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7675+1G>T	10.37:g.73562832G>T			73232838	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Nonsense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	39	7.507638	0.98325	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	.	.	.	5.02	4.12	0.48240	.	0.124573	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.6301	0.62189	0.0755:0.0:0.9244:0.0	.	.	.	.	X	2559;2554;2557;314	.	ENSP00000224721:E2559X	E	+	1	0	CDH23	73232838	1.000000	0.71417	0.642000	0.29436	0.701000	0.40568	9.265000	0.95647	1.250000	0.43966	0.551000	0.68910	GAG		0.617	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	Nonsense_Mutation	T	73562832	G	T	73562832	5	4	197	1	0	0	0	0	0	0	1	0	3108	1246	43	3	8215	3	CDH23	10	73562832	Splice_Site	SNP	G	TCGA-23-2081-01A-01W-0722-08	2554601	73562832	61971915	23	11370											
TTC17	55761	broad.mit.edu	37	11	43427399	43427399	+	Silent	SNP	C	C	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr11:43427399C>T	ENST00000039989.4	+	13	1673	c.1659C>T	c.(1657-1659)tcC>tcT	p.S553S	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.S553S	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	553					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S553S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTGACTGTTCCATAACTGACT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	11											119	112	115					11																	43427399		2203	4300	6503	43383975	SO:0001819	synonymous_variant	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1659C>T	11.37:g.43427399C>T			43383975	G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	CCDS31466.1																																																																																				0.423	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		T	43427399	C	T	43427399	2	4	197	1	0	0	0	0	0	0	0	1	16684	581	21	2		2	TTC17	11	43427399	Silent	SNP	C	TCGA-23-2081-01A-01W-0722-08		43427399	91579117	24	11371											
OR8G2	0	broad.mit.edu	37	11	124095490	124095490	+	IGR	SNP	A	A	G			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr11:124095490A>G								OR10D3 (38538 upstream) : OR8G1 (24932 downstream)																							CTGGGCTCTCAGAACAGCCAG	0.493																																																0			11											86	89	88					11																	124095490		2077	4235	6312	123600700	SO:0001628	intergenic_variant	26492																															11.37:g.124095490A>G			123600700		Silent	SNP		37																																																																																				0	0.493									G	124095490	A	G	124095490	1	3	197	0	1	0	0	0	0	0	0	0	11235	175	7	4		4	OR8G2	11	124095490	IGR	SNP	A	TCGA-23-2081-01A-01W-0722-08	80668091	124095490	10911026	25	11372											
KRT6C	286887	broad.mit.edu	37	12	52865203	52865203	+	Splice_Site	SNP	A	A	G			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr12:52865203A>G	ENST00000252250.6	-	4	960		c.e4+1			NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C						intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.?(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GGAGATGCTTACTGCATCATA	0.463																																																1	Unknown(1)	ovary(1)	12											115	104	108					12																	52865203		2203	4300	6503	51151470	SO:0001630	splice_region_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.912+1T>C	12.37:g.52865203A>G			51151470	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Splice_Site	SNP	ENST00000252250.6	37	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.319164	0.41096	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	.	.	.	3.33	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7221	0.46046	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT6C	51151470	1.000000	0.71417	0.653000	0.29593	0.217000	0.24651	6.964000	0.76061	1.507000	0.48752	0.368000	0.22195	.		0.463	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	Intron	G	52865203	A	G	52865203	5	3	197	1	0	0	0	0	0	0	1	0	8482	405	14	4	804	4	KRT6C	12	52865203	Splice_Site	SNP	A	TCGA-23-2081-01A-01W-0722-08		52865203	80986692	26	11373											
TMCC3	57458	broad.mit.edu	37	12	94975623	94975623	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr12:94975623C>T	ENST00000261226.4	-	2	901	c.770G>A	c.(769-771)tGt>tAt	p.C257Y	TMCC3_ENST00000551457.1_Missense_Mutation_p.C226Y	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	257						integral component of membrane (GO:0016021)		p.C257Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCCACTCGAACATTCATCATC	0.577																																																1	Substitution - Missense(1)	ovary(1)	12											102	92	96					12																	94975623		2203	4300	6503	93499754	SO:0001583	missense	57458			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.770G>A	12.37:g.94975623C>T	ENSP00000261226:p.Cys257Tyr		93499754	Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854532	0.71719	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.52057	0.68;0.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.76008	-0.3116	10	0.87932	D	0	-23.3798	20.3242	0.98691	0.0:1.0:0.0:0.0	.	257	Q9ULS5	TMCC3_HUMAN	Y	257;226	ENSP00000261226:C257Y;ENSP00000449888:C226Y	ENSP00000261226:C257Y	C	-	2	0	TMCC3	93499754	1.000000	0.71417	0.967000	0.41034	0.433000	0.31745	7.487000	0.81328	2.811000	0.96726	0.555000	0.69702	TGT		0.577	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		T	94975623	C	T	94975623	3	4	197	1	0	0	0	0	1	0	0	0	15994	478	17	2	675	2	TMCC3	12	94975623	Missense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08	42110420	94975623	38876272	27	11374											
TMEM132D	121256	broad.mit.edu	37	12	130185159	130185159	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr12:130185159T>G	ENST00000422113.2	-	2	490	c.164A>C	c.(163-165)aAc>aCc	p.N55T	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	55					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.N55T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GACGTCCGCGTTGTTGATGTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	12											96	71	80					12																	130185159		2203	4300	6503	128751112	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.164A>C	12.37:g.130185159T>G	ENSP00000408581:p.Asn55Thr		128751112	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860620	0.51482	.	.	ENSG00000151952	ENST00000422113	T	0.13089	2.62	5.33	1.66	0.24008	.	0.735385	0.12590	N	0.455644	T	0.14184	0.0343	M	0.65975	2.015	0.09310	N	1	P	0.38504	0.634	B	0.34242	0.178	T	0.11179	-1.0598	9	.	.	.	-9.6166	8.3218	0.32134	0.0:0.295:0.0:0.705	.	55	Q14C87	T132D_HUMAN	T	55	ENSP00000408581:N55T	.	N	-	2	0	TMEM132D	128751112	0.998000	0.40836	0.001000	0.08648	0.901000	0.52897	4.115000	0.57865	0.036000	0.15547	0.454000	0.30748	AAC		0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		G	130185159	T	G	130185159	3	3	197	1	0	0	0	0	1	0	0	0	16047	1725	60	5	3167	5	TMEM132D	12	130185159	Missense_Mutation	SNP	T	TCGA-23-2081-01A-01W-0722-08	35209536	130185159	3666736	28	11375											
TJP1	7082	broad.mit.edu	37	15	30025330	30025330	+	Silent	SNP	C	C	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr15:30025330C>T	ENST00000346128.6	-	13	2178	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E	TJP1_ENST00000356107.6_Silent_p.E568E|TJP1_ENST00000545208.2_Silent_p.E568E|TJP1_ENST00000400011.2_Silent_p.E572E	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	568	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E568E(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTCGTTCTACCTCCTTATGAT	0.383																																					Melanoma(77;681 1843 6309 6570)											1	Substitution - coding silent(1)	ovary(1)	15											152	134	139					15																	30025330		1867	4103	5970	27812622	SO:0001819	synonymous_variant	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1704G>A	15.37:g.30025330C>T			27812622	B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	CCDS42007.1																																																																																				0.383	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		T	30025330	C	T	30025330	2	4	197	1	0	0	0	0	0	0	0	1	15929	680	24	2		2	TJP1	15	30025330	Silent	SNP	C	TCGA-23-2081-01A-01W-0722-08		30025330	72506062	29	11376											
RTF1	23168	broad.mit.edu	37	15	41767963	41767963	+	Silent	SNP	A	A	G			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr15:41767963A>G	ENST00000389629.4	+	11	1440	c.1428A>G	c.(1426-1428)gaA>gaG	p.E476E		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	476	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.E351E(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATAAAAAGGAATTATCTATTA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	15											51	55	53					15																	41767963		2201	4299	6500	39555255	SO:0001819	synonymous_variant	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1428A>G	15.37:g.41767963A>G			39555255	Q96BX6	Silent	SNP	ENST00000389629.4	37	CCDS32200.2																																																																																				0.378	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		G	41767963	A	G	41767963	2	3	197	1	0	0	0	0	0	0	0	1	13724	98	4	4		4	RTF1	15	41767963	Silent	SNP	A	TCGA-23-2081-01A-01W-0722-08	11742633	41767963	60763429	30	11377											
HYDIN	54768	broad.mit.edu	37	16	70908489	70908489	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr16:70908489T>C	ENST00000393567.2	-	64	10817	c.10667A>G	c.(10666-10668)aAa>aGa	p.K3556R	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3556					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.K3507R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTGTGAGCTTTCTTTGCTGC	0.423																																																1	Substitution - Missense(1)	ovary(1)	16											3	3	3					16																	70908489		1559	3511	5070	69465990	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10667A>G	16.37:g.70908489T>C	ENSP00000377197:p.Lys3556Arg		69465990	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696619	0.30142	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00922	5.54	4.71	4.71	0.59529	.	0.000000	0.34411	U	0.003993	T	0.00998	0.0033	L	0.41027	1.25	0.80722	D	1	B	0.23854	0.092	B	0.23018	0.043	T	0.60546	-0.7242	10	0.15499	T	0.54	.	8.6059	0.33773	0.0:0.0877:0.0:0.9123	.	3555	F8WD23	.	R	3556;3555	ENSP00000377197:K3556R	ENSP00000313052:K3555R	K	-	2	0	HYDIN	69465990	1.000000	0.71417	0.981000	0.43875	0.832000	0.47134	2.065000	0.41442	1.728000	0.51552	0.418000	0.28097	AAA		0.423	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			C	70908489	T	C	70908489	3	2	197	1	0	0	0	0	1	0	0	0	7467	1841	64	4	4790	4	HYDIN	16	70908489	Missense_Mutation	SNP	T	TCGA-23-2081-01A-01W-0722-08		70908489	19446264	31	11378											
TP53	7157	broad.mit.edu	37	17	7577153	7577153	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr17:7577153C>A	ENST00000269305.4	-	8	974	c.785G>T	c.(784-786)gGt>gTt	p.G262V	TP53_ENST00000445888.2_Missense_Mutation_p.G262V|TP53_ENST00000420246.2_Missense_Mutation_p.G262V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G262V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G262V	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	262	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). {ECO:0000269|Ref.23}.|GN -> PD (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G262V(19)|p.0?(8)|p.G262D(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262fs*83(2)|p.G262_S269delGNLLGRNS(2)|p.G262del(2)|p.G262H(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.G262fs*2(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)	CAGTAGATTACCACTACTCAG	0.517		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"	46	Substitution - Missense(24)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(3)|Complex - deletion inframe(1)	lung(8)|large_intestine(5)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(5)|upper_aerodigestive_tract(4)|bone(4)|endometrium(2)|urinary_tract(2)|pancreas(2)|eye(1)|liver(1)|breast(1)|stomach(1)	17											40	37	38					17																	7577153		2203	4299	6502	7517878	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.785G>T	17.37:g.7577153C>A	ENSP00000269305:p.Gly262Val		7517878	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565296	0.86439	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99957	-9.0;-9.0;-9.0;-9.0;-9.0;-9.0	5.03	5.03	0.67393	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	0.99955	0.9981	M	0.90977	3.165	0.80722	D	1	D;P;D;D	0.89917	1.0;0.819;0.999;1.0	D;P;D;D	0.83275	0.996;0.537;0.996;0.992	D	0.95599	0.8661	10	0.87932	D	0	-15.6281	15.9038	0.79403	0.0:1.0:0.0:0.0	.	262;262;262;262	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	262;262;262;262;262;251;130	ENSP00000352610:G262V;ENSP00000269305:G262V;ENSP00000398846:G262V;ENSP00000391127:G262V;ENSP00000391478:G262V;ENSP00000425104:G130V	ENSP00000269305:G262V	G	-	2	0	TP53	7517878	1.000000	0.71417	0.951000	0.38953	0.085000	0.17905	7.572000	0.82409	2.619000	0.88677	0.462000	0.41574	GGT		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577153	C	A	7577153	3	1	197	1	0	0	0	0	1	0	0	0	16381	507	18	3	501	3	TP53	17	7577153	Missense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08		7577153	73618057	32	11379											
ADORA2B	136	broad.mit.edu	37	17	15878601	15878601	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr17:15878601T>G	ENST00000304222.2	+	2	1276	c.944T>G	c.(943-945)gTc>gGc	p.V315G	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	315					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.V315G(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	CAAGCAGATGTCAAGAGTGGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	17											99	107	104					17																	15878601		2203	4300	6503	15819326	SO:0001583	missense	136			M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"GPCR / Class A : Adenosine receptors"	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.944T>G	17.37:g.15878601T>G	ENSP00000304501:p.Val315Gly		15819326		Missense_Mutation	SNP	ENST00000304222.2	37	CCDS11173.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.485130	0.26598	.	.	ENSG00000170425	ENST00000304222	T	0.55760	0.5	5.79	-0.808	0.10868	.	0.687214	0.14043	N	0.345311	T	0.21307	0.0513	N	0.03608	-0.345	0.18873	N	0.999981	B	0.06786	0.001	B	0.01281	0.0	T	0.12915	-1.0529	10	0.25106	T	0.35	-3.4751	3.3213	0.07052	0.368:0.2854:0.0:0.3466	.	315	P29275	AA2BR_HUMAN	G	315	ENSP00000304501:V315G	ENSP00000304501:V315G	V	+	2	0	ADORA2B	15819326	0.000000	0.05858	0.078000	0.20375	0.741000	0.42261	-0.066000	0.11598	-0.090000	0.12462	0.460000	0.39030	GTC		0.483	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1			G	15878601	T	G	15878601	3	3	197	1	0	0	0	0	1	0	0	0	328	1667	58	5	950	5	ADORA2B	17	15878601	Missense_Mutation	SNP	T	TCGA-23-2081-01A-01W-0722-08	8301448	15878601	65316609	33	11380											
OTOP2	92736	broad.mit.edu	37	17	72927062	72927062	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr17:72927062A>T	ENST00000580223.1	+	5	1362	c.1332A>T	c.(1330-1332)caA>caT	p.Q444H	OTOP2_ENST00000331427.4_Missense_Mutation_p.Q444H			Q7RTS6	OTOP2_HUMAN	otopetrin 2	444						integral component of membrane (GO:0016021)		p.Q444H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCCCTGCCAAGACCTCACCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											103	84	90					17																	72927062		2203	4300	6503	70438657	SO:0001583	missense	92736			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1332A>T	17.37:g.72927062A>T	ENSP00000463837:p.Gln444His		70438657		Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	A	0.238	-1.015850	0.02078	.	.	ENSG00000183034	ENST00000331427	T	0.09817	2.94	5.0	-1.89	0.07689	.	0.677498	0.12692	N	0.447126	T	0.02455	0.0075	N	0.02142	-0.665	0.27568	N	0.949965	B	0.02656	0.0	B	0.04013	0.001	T	0.43458	-0.9390	10	0.14656	T	0.56	-6.822	0.4306	0.00471	0.2061:0.1913:0.1958:0.4068	.	444	Q7RTS6	OTOP2_HUMAN	H	444	ENSP00000332528:Q444H	ENSP00000332528:Q444H	Q	+	3	2	OTOP2	70438657	0.000000	0.05858	0.671000	0.29857	0.007000	0.05969	-1.927000	0.01561	0.009000	0.14813	0.379000	0.24179	CAA		0.637	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		T	72927062	A	T	72927062	3	4	197	1	0	0	0	0	1	0	0	0	11306	69	3	5	1350	5	OTOP2	17	72927062	Missense_Mutation	SNP	A	TCGA-23-2081-01A-01W-0722-08	57048461	72927062	8268148	34	11381											
B3GNTL1	146712	broad.mit.edu	37	17	81006596	81006596	+	Silent	SNP	T	T	C	rs200476683		TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr17:81006596T>C	ENST00000320865.3	-	2	139	c.126A>G	c.(124-126)caA>caG	p.Q42Q	B3GNTL1_ENST00000576599.1_5'UTR|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	42							transferase activity, transferring glycosyl groups (GO:0016757)	p.Q42Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CAAAGTCCTGTTGCAAAACAG	0.468																																																1	Substitution - coding silent(1)	ovary(1)	17						T		0,4406		0,0,2203	99	97	98		126	-5.8	0.8	17		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B3GNTL1	NM_001009905.1		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		42/362	81006596	1,13005	2203	4300	6503	78599885	SO:0001819	synonymous_variant	146712			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.126A>G	17.37:g.81006596T>C			78599885	Q6GV30|Q8WUT3	Silent	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																				0.468	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		C	81006596	T	C	81006596	2	2	197	1	0	0	0	0	0	0	0	1	1265	1722	60	4		4	B3GNTL1	17	81006596	Silent	SNP	T	TCGA-23-2081-01A-01W-0722-08	8079534	81006596	188614	35	11382											
MUC16	94025	broad.mit.edu	37	19	9085170	9085170	+	Silent	SNP	T	T	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr19:9085170T>C	ENST00000397910.4	-	1	6848	c.6645A>G	c.(6643-6645)acA>acG	p.T2215T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2215	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T2215T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTTGTTTCTGTATTAGTAG	0.473																																																1	Substitution - coding silent(1)	ovary(1)	19											112	107	108					19																	9085170		1968	4159	6127	8946170	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6645A>G	19.37:g.9085170T>C			8946170	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9085170	T	C	9085170	2	2	197	1	0	0	0	0	0	0	0	1	9973	1567	55	4		4	MUC16	19	9085170	Silent	SNP	T	TCGA-23-2081-01A-01W-0722-08		9085170	50043813	36	11383											
ZNF665	79788	broad.mit.edu	37	19	53669371	53669371	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr19:53669371T>A	ENST00000600412.1	-	2	292	c.177A>T	c.(175-177)agA>agT	p.R59S	ZNF665_ENST00000396424.3_Missense_Mutation_p.R124S|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	59					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.R59S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CACGTTGAGCTCTTCTACCAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	19											118	124	122					19																	53669371		2068	4226	6294	58361183	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.177A>T	19.37:g.53669371T>A	ENSP00000469154:p.Arg59Ser		58361183	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	T	9.811	1.183109	0.21870	.	.	ENSG00000197497	ENST00000396424	T	0.08546	3.08	2.4	2.4	0.29515	.	.	.	.	.	T	0.05823	0.0152	N	0.25485	0.75	0.09310	N	1	P	0.46142	0.873	B	0.42361	0.385	T	0.31530	-0.9940	9	0.20046	T	0.44	.	5.1865	0.15187	0.0:0.1483:0.0:0.8517	.	124	Q9H7R5-2	.	S	124	ENSP00000379702:R124S	ENSP00000379702:R124S	R	-	3	2	ZNF665	58361183	0.001000	0.12720	0.004000	0.12327	0.041000	0.13682	0.968000	0.29357	1.098000	0.41479	0.443000	0.29094	AGA		0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		A	53669371	T	A	53669371	3	1	197	1	0	0	0	0	1	0	0	0	18073	1548	54	5	1668	5	ZNF665	19	53669371	Missense_Mutation	SNP	T	TCGA-23-2081-01A-01W-0722-08	44584201	53669371	5459612	37	11384											
CDH22	64405	broad.mit.edu	37	20	44841655	44841655	+	Silent	SNP	C	C	T			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr20:44841655C>T	ENST00000372262.3	-	5	1411	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.E337E	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E337E(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGATGATGGCCTCCTGAGTGT	0.602																																																1	Substitution - coding silent(1)	ovary(1)	20											151	95	114					20																	44841655		2203	4300	6503	44275062	SO:0001819	synonymous_variant	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1011G>A	20.37:g.44841655C>T			44275062	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	CCDS13395.1																																																																																				0.602	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		T	44841655	C	T	44841655	2	4	197	1	0	0	0	0	0	0	0	1	3107	680	24	2		2	CDH22	20	44841655	Silent	SNP	C	TCGA-23-2081-01A-01W-0722-08		44841655	18183865	38	11385											
SALL4	57167	broad.mit.edu	37	20	50407414	50407414	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chr20:50407414G>C	ENST00000217086.4	-	2	1719	c.1608C>G	c.(1606-1608)ttC>ttG	p.F536L	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	536					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F536L(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACTCCCTTGGAAGCCACCAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	20											110	108	108					20																	50407414		2203	4300	6503	49840821	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1608C>G	20.37:g.50407414G>C	ENSP00000217086:p.Phe536Leu		49840821	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	7.129	0.579538	0.13686	.	.	ENSG00000101115	ENST00000217086	T	0.08984	3.03	5.4	5.4	0.78164	.	0.000000	0.46442	D	0.000286	T	0.16342	0.0393	M	0.86028	2.79	0.80722	D	1	B	0.25441	0.126	B	0.16289	0.015	T	0.07121	-1.0789	10	0.22706	T	0.39	-31.8673	19.1686	0.93567	0.0:0.0:1.0:0.0	.	536	Q9UJQ4	SALL4_HUMAN	L	536	ENSP00000217086:F536L	ENSP00000217086:F536L	F	-	3	2	SALL4	49840821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.151000	0.50670	2.517000	0.84864	0.650000	0.86243	TTC		0.582	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			C	50407414	G	C	50407414	3	2	197	1	0	0	0	0	1	0	0	0	13816	1165	41	3	1565	3	SALL4	20	50407414	Missense_Mutation	SNP	G	TCGA-23-2081-01A-01W-0722-08	5565759	50407414	12618106	39	11386											
SLC38A5	92745	broad.mit.edu	37	X	48318131	48318131	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chrX:48318131G>C	ENST00000376876.3	-	14	2043	c.1200C>G	c.(1198-1200)atC>atG	p.I400M	SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.I349M|SLC38A5_ENST00000317669.5_Missense_Mutation_p.I400M			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	400					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)	p.I400M(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TAACTCCAAAGATATCCCGGA	0.517																																																1	Substitution - Missense(1)	ovary(1)	X											123	100	108					X																	48318131		2203	4300	6503	48203075	SO:0001583	missense	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1200C>G	X.37:g.48318131G>C	ENSP00000366073:p.Ile400Met		48203075	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.263433	0.39995	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02812	4.15;4.15;4.15	5.31	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	M	0.91663	3.23	0.50467	D	0.99987	D	0.89917	1.0	D	0.87578	0.998	T	0.00686	-1.1610	10	0.87932	D	0	.	10.8207	0.46604	0.0945:0.0:0.9055:0.0	.	400	Q8WUX1	S38A5_HUMAN	M	400;349;400	ENSP00000366073:I400M;ENSP00000366071:I349M;ENSP00000313740:I400M	ENSP00000313740:I400M	I	-	3	3	SLC38A5	48203075	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	1.796000	0.38794	1.035000	0.39972	0.529000	0.55759	ATC		0.517	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		C	48318131	G	C	48318131	3	2	197	1	0	0	0	0	1	0	0	0	14610	932	33	3	230	3	SLC38A5	23	48318131	Missense_Mutation	SNP	G	TCGA-23-2081-01A-01W-0722-08		48318131	106952429	40	11387											
CYSLTR1	10800	broad.mit.edu	37	X	77528369	77528369	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chrX:77528369G>C	ENST00000373304.3	-	3	1167	c.875C>G	c.(874-876)cCt>cGt	p.P292R		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	292					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)	p.P292R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	ATATAGGAGAGGGTCAAAGCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											59	58	58					X																	77528369		2202	4300	6502	77415025	SO:0001583	missense	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.875C>G	X.37:g.77528369G>C	ENSP00000362401:p.Pro292Arg		77415025	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433368	0.62844	.	.	ENSG00000173198	ENST00000373304	D	0.98807	-5.15	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.120594	0.56097	D	0.000025	D	0.99217	0.9728	M	0.92970	3.365	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	D	0.99060	1.0830	10	0.87932	D	0	.	12.4121	0.55473	0.0:0.0:1.0:0.0	.	292	Q9Y271	CLTR1_HUMAN	R	292	ENSP00000362401:P292R	ENSP00000362401:P292R	P	-	2	0	CYSLTR1	77415025	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.342000	0.97044	1.770000	0.52166	0.468000	0.43344	CCT		0.423	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			C	77528369	G	C	77528369	3	2	197	1	0	0	0	0	1	0	0	0	4201	1000	35	3	142	3	CYSLTR1	23	77528369	Missense_Mutation	SNP	G	TCGA-23-2081-01A-01W-0722-08	29210238	77528369	77742191	41	11388											
TCEAL1	9338	broad.mit.edu	37	X	102884961	102884961	+	Silent	SNP	G	G	A	rs201420287		TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chrX:102884961G>A	ENST00000372625.3	+	3	281	c.117G>A	c.(115-117)tcG>tcA	p.S39S	TCEAL1_ENST00000469820.1_3'UTR|TCEAL1_ENST00000372624.3_Silent_p.S39S|TCEAL1_ENST00000372626.3_Silent_p.S39S	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	37	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S39S(1)		ovary(1)	1						AGCAGTCTTCGGAGGAGCAGT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	X											21	20	20					X																	102884961		2195	4287	6482	102771617	SO:0001819	synonymous_variant	9338			M99701	CCDS35358.1	Xq22.1	2014-03-21			ENSG00000172465	ENSG00000172465			11616	protein-coding gene	gene with protein product		300237				8206389, 7971997, 16221301	Standard	NM_004780		Approved	p21, pp21, SIIR, P21, WEX9	uc004eku.3	Q15170	OTTHUMG00000022699	ENST00000372625.3:c.117G>A	X.37:g.102884961G>A			102771617	Q9UJQ9	Silent	SNP	ENST00000372625.3	37	CCDS35358.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254234	0.22965	.	.	ENSG00000172465	ENST00000537029	.	.	.	4.52	-9.04	0.00734	.	.	.	.	.	T	0.32071	0.0817	.	.	.	0.44515	D	0.997469	.	.	.	.	.	.	T	0.41142	-0.9525	4	.	.	.	-7.0888	0.4102	0.00440	0.3486:0.2597:0.1432:0.2486	.	.	.	.	Q	38	.	.	R	+	2	0	TCEAL1	102771617	0.033000	0.19621	0.008000	0.14137	0.313000	0.28021	-2.496000	0.00970	-2.910000	0.00308	-0.192000	0.12808	CGG		0.622	TCEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058903.1	NM_004780		A	102884961	G	A	102884961	2	1	197	1	0	0	0	0	0	0	0	1	15670	1103	39	1		1	TCEAL1	23	102884961	Silent	SNP	G	TCGA-23-2081-01A-01W-0722-08	25356592	102884961	52385599	42	11389											
IRS4	8471	broad.mit.edu	37	X	107979367	107979367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chrX:107979367C>A	ENST00000372129.2	-	1	284	c.208G>T	c.(208-210)Gag>Tag	p.E70*	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	70					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.E70*(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGGTCCTCCTCTTCGGACTCG	0.642																																																1	Substitution - Nonsense(1)	ovary(1)	X											33	29	30					X																	107979367		2192	4274	6466	107866023	SO:0001587	stop_gained	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.208G>T	X.37:g.107979367C>A	ENSP00000361202:p.Glu70*		107866023		Nonsense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404221	0.42613	.	.	ENSG00000133124	ENST00000372129	.	.	.	3.14	2.28	0.28536	.	0.675885	0.12603	N	0.454513	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-4.0156	4.008	0.09610	0.0:0.6144:0.2429:0.1427	.	.	.	.	X	70	.	ENSP00000361202:E70X	E	-	1	0	IRS4	107866023	0.626000	0.27120	0.454000	0.27019	0.080000	0.17528	2.173000	0.42472	0.738000	0.32606	0.529000	0.55759	GAG		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		A	107979367	C	A	107979367	4	1	197	1	0	0	0	0	0	1	0	0	7842	922	32	3	3569	3	IRS4	23	107979367	Nonsense_Mutation	SNP	C	TCGA-23-2081-01A-01W-0722-08	5094406	107979367	47291193	43	11390											
HCFC1	3054	broad.mit.edu	37	X	153222426	153222426	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2081-01A-01W-0722-08	TCGA-23-2081-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	05cd5b89-dd8b-49fa-afec-787b644f7854	c53ea000-9f6d-44ea-b41b-a2a10fb1deb0	g.chrX:153222426T>A	ENST00000310441.7	-	14	3405	c.2439A>T	c.(2437-2439)aaA>aaT	p.K813N	HCFC1_ENST00000354233.3_Missense_Mutation_p.K744N|HCFC1_ENST00000369984.4_Missense_Mutation_p.K813N	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	813	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.K716N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGATGATTTTCGCAGGTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	X											117	111	113					X																	153222426		2068	4176	6244	152875620	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2439A>T	X.37:g.153222426T>A	ENSP00000309555:p.Lys813Asn		152875620	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020463	0.75275	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04083	3.77;3.83;3.71	5.76	-0.677	0.11357	.	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	L	0.29908	0.895	0.45342	D	0.998334	D	0.76494	0.999	D	0.80764	0.994	T	0.00383	-1.1774	10	0.51188	T	0.08	.	11.1472	0.48436	0.0:0.5162:0.0:0.4838	.	813	P51610	HCFC1_HUMAN	N	813;813;744	ENSP00000309555:K813N;ENSP00000359001:K813N;ENSP00000346174:K744N	ENSP00000309555:K813N	K	-	3	2	HCFC1	152875620	0.998000	0.40836	0.958000	0.39756	0.983000	0.72400	0.420000	0.21263	-0.523000	0.06409	-0.330000	0.08379	AAA		0.582	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		A	153222426	T	A	153222426	3	1	197	1	0	0	0	0	1	0	0	0	6991	1838	64	5	3720	5	HCFC1	23	153222426	Missense_Mutation	SNP	T	TCGA-23-2081-01A-01W-0722-08	45243059	153222426	2048134	44	11391											
PLOD1	5351	genome.wustl.edu	37	1	12033052	12033052	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr1:12033052G>C	ENST00000196061.4	+	18	2053	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	PLOD1_ENST00000376369.3_Missense_Mutation_p.E723Q	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	676	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GGTGGATTACGAGGTGAGCAG	0.632																																																0			1											69	57	61					1																	12033052		2203	4300	6503	11955639	SO:0001583	missense	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.2026G>C	1.37:g.12033052G>C	ENSP00000196061:p.Glu676Gln		11955639	B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142149	0.37825	.	.	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.76709	-1.04;-1.04	5.52	5.52	0.82312	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.154264	0.64402	D	0.000015	T	0.69860	0.3158	L	0.35542	1.07	0.54753	D	0.999986	B;B	0.20988	0.022;0.05	B;B	0.20767	0.029;0.031	T	0.63637	-0.6592	10	0.21540	T	0.41	.	18.4801	0.90808	0.0:0.0:1.0:0.0	.	723;676	B4DR87;Q02809	.;PLOD1_HUMAN	Q	340;723;676	ENSP00000365548:E723Q;ENSP00000196061:E676Q	ENSP00000196061:E676Q	E	+	1	0	PLOD1	11955639	1.000000	0.71417	0.997000	0.53966	0.659000	0.38960	5.996000	0.70639	2.597000	0.87782	0.549000	0.68633	GAG		0.632	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		C	12033052	G	C	12033052	3	2	198	1	0	0	0	0	1	0	0	0	12101	1059	37	3	2096	3	PLOD1	1	12033052	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09		12033052	237217569	1	11392											
GPR3	2827	genome.wustl.edu	37	1	27720935	27720935	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr1:27720935G>C	ENST00000374024.3	+	2	732	c.633G>C	c.(631-633)caG>caC	p.Q211H		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	211					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TCATGCTGCAGCTCTACGCCC	0.582																																																0			1											190	165	173					1																	27720935		2203	4300	6503	27593522	SO:0001583	missense	2827			BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"GPCR / Class A : Orphans"	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.633G>C	1.37:g.27720935G>C	ENSP00000363136:p.Gln211His		27593522	A8K570	Missense_Mutation	SNP	ENST00000374024.3	37	CCDS303.1	.	.	.	.	.	.	.	.	.	.	G	9.307	1.054650	0.19907	.	.	ENSG00000181773	ENST00000374024	T	0.36878	1.23	5.64	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.072221	0.56097	D	0.000026	T	0.23688	0.0573	L	0.28504	0.86	0.47778	D	0.999516	B	0.10296	0.003	B	0.08055	0.003	T	0.08597	-1.0714	10	0.59425	D	0.04	.	5.9119	0.19033	0.1632:0.0:0.6845:0.1522	.	211	P46089	GPR3_HUMAN	H	211	ENSP00000363136:Q211H	ENSP00000363136:Q211H	Q	+	3	2	GPR3	27593522	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.942000	0.49018	1.317000	0.45149	0.462000	0.41574	CAG		0.582	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		C	27720935	G	C	27720935	3	2	198	1	0	0	0	0	1	0	0	0	6686	962	34	3	635	3	GPR3	1	27720935	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	15687883	27720935	221529686	2	11393											
NOTCH2	4853	genome.wustl.edu	37	1	120468135	120468135	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr1:120468135C>T	ENST00000256646.2	-	25	4523	c.4304G>A	c.(4303-4305)cGg>cAg	p.R1435Q	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1435	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACGCCATCCCGAGCTTTGTC	0.622			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0			1											62	65	64					1																	120468135		2203	4300	6503	120269658	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4304G>A	1.37:g.120468135C>T	ENSP00000256646:p.Arg1435Gln		120269658	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043772	0.55003	.	.	ENSG00000134250	ENST00000256646	D	0.90069	-2.61	5.72	5.72	0.89469	Notch domain (4);	0.000000	0.35207	U	0.003375	D	0.90202	0.6937	L	0.57536	1.79	0.30082	N	0.809051	D	0.67145	0.996	P	0.57679	0.825	D	0.87007	0.2120	10	0.51188	T	0.08	.	18.8745	0.92329	0.0:1.0:0.0:0.0	.	1435	Q04721	NOTC2_HUMAN	Q	1435	ENSP00000256646:R1435Q	ENSP00000256646:R1435Q	R	-	2	0	NOTCH2	120269658	0.000000	0.05858	1.000000	0.80357	0.680000	0.39746	0.419000	0.21247	2.706000	0.92434	0.561000	0.74099	CGG		0.622	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		T	120468135	C	T	120468135	3	4	198	1	0	0	0	0	1	0	0	0	10548	652	23	1	3151	1	NOTCH2	1	120468135	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	92747200	120468135	128782486	3	11394											
DUSP27	92235	genome.wustl.edu	37	1	167095721	167095721	+	Silent	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr1:167095721G>C	ENST00000361200.2	+	6	1519	c.1353G>C	c.(1351-1353)ctG>ctC	p.L451L	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.L451L|DUSP27_ENST00000443333.1_Silent_p.L451L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	451					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCTGGGTCCTGAAGCAGCAGC	0.697																																																0			1											15	14	14					1																	167095721		2198	4299	6497	165362345	SO:0001819	synonymous_variant	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1353G>C	1.37:g.167095721G>C			165362345	A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.697	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		C	167095721	G	C	167095721	2	2	198	1	0	0	0	0	0	0	0	1	4824	1277	45	3		3	DUSP27	1	167095721	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	46627586	167095721	82154900	4	11395											
LAMC1	3915	genome.wustl.edu	37	1	183087281	183087281	+	Splice_Site	SNP	A	A	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr1:183087281A>G	ENST00000258341.4	+	11	2247	c.1990A>G	c.(1990-1992)Agt>Ggt	p.S664G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	664	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CAGTGAGAGAAGTAAGTTATG	0.348																																																0			1											78	83	81					1																	183087281		2203	4300	6503	181353904	SO:0001630	splice_region_variant	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1990+1A>G	1.37:g.183087281A>G			181353904	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	10.01	1.234317	0.22626	.	.	ENSG00000135862	ENST00000258341	T	0.36520	1.25	5.0	5.0	0.66597	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.19967	0.0480	N	0.16130	0.375	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.07731	-1.0757	10	0.02654	T	1	.	14.7399	0.69445	1.0:0.0:0.0:0.0	.	664	P11047	LAMC1_HUMAN	G	664	ENSP00000258341:S664G	ENSP00000258341:S664G	S	+	1	0	LAMC1	181353904	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.867000	0.75511	1.879000	0.54435	0.528000	0.53228	AGT		0.348	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	Missense_Mutation	G	183087281	A	G	183087281	5	3	198	1	0	0	0	0	0	0	1	0	8614	86	3	4	2032	4	LAMC1	1	183087281	Splice_Site	SNP	A	TCGA-23-2641-01A-01D-1526-09	15991560	183087281	66163340	5	11396											
HMCN1	83872	genome.wustl.edu	37	1	186008089	186008089	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr1:186008089A>G	ENST00000271588.4	+	38	6209	c.5980A>G	c.(5980-5982)Atc>Gtc	p.I1994V	HMCN1_ENST00000367492.2_Missense_Mutation_p.I1994V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1994	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGCGTGGCCATCAACTCAGC	0.428																																																0			1											107	99	102					1																	186008089		2203	4300	6503	184274712	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5980A>G	1.37:g.186008089A>G	ENSP00000271588:p.Ile1994Val		184274712	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	2.861	-0.236239	0.05944	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65916	-0.18;-0.18	5.85	1.04	0.20106	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.399659	0.28883	N	0.013838	T	0.30792	0.0776	N	0.03209	-0.39	0.30405	N	0.77963	B	0.15930	0.015	B	0.14023	0.01	T	0.14727	-1.0462	10	0.22109	T	0.4	.	5.7533	0.18158	0.3588:0.0:0.4851:0.1561	.	1994	Q96RW7	HMCN1_HUMAN	V	1994	ENSP00000271588:I1994V;ENSP00000356462:I1994V	ENSP00000271588:I1994V	I	+	1	0	HMCN1	184274712	0.030000	0.19436	0.998000	0.56505	0.938000	0.57974	0.364000	0.20325	0.143000	0.18926	0.533000	0.62120	ATC		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186008089	A	G	186008089	3	3	198	1	0	0	0	0	1	0	0	0	7220	217	8	4	6130	4	HMCN1	1	186008089	Missense_Mutation	SNP	A	TCGA-23-2641-01A-01D-1526-09	2920808	186008089	63242532	6	11397											
TTC13	79573	genome.wustl.edu	37	1	231114465	231114465	+	Missense_Mutation	SNP	C	C	G	rs76376323	byFrequency	TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr1:231114465C>G	ENST00000366661.4	-	1	119	c.112G>C	c.(112-114)Ggg>Cgg	p.G38R	ARV1_ENST00000366658.2_5'Flank|ARV1_ENST00000310256.2_5'Flank|TTC13_ENST00000366662.4_Missense_Mutation_p.G38R|TTC13_ENST00000414259.1_Missense_Mutation_p.G38R	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	38				G -> R (in Ref. 1; BAC11700). {ECO:0000305}.						central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GGCCGCAGCCCGGCGGACAGG	0.771													C|||	1288	0.257188	0.1498	0.1729	5008	,	,		7397	0.3899		0.2396	False		,,,				2504	0.3436															0			1											1	1	1					1																	231114465		757	1622	2379	229181088	SO:0001583	missense	79573				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.112G>C	1.37:g.231114465C>G	ENSP00000355621:p.Gly38Arg		229181088	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	532	0.24358974358974358	60	0.12195121951219512	69	0.19060773480662985	225	0.39335664335664333	178	0.23482849604221637	C	10.42	1.345811	0.24426	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000522399	T;T;T	0.51817	0.86;0.69;0.69	3.75	2.82	0.32997	.	1.184840	0.06392	N	0.717231	T	0.00012	0.0000	N	0.08118	0	0.45962	P	0.0012199999999999989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.40194	-0.9576	9	0.30078	T	0.28	-4.4309	9.7005	0.40184	0.0:0.8995:0.0:0.1005	.	38;38;38	E9PGV4;Q8NBP0-2;Q8NBP0	.;.;TTC13_HUMAN	R	38	ENSP00000355621:G38R;ENSP00000355622:G38R;ENSP00000416631:G38R	ENSP00000355621:G38R	G	-	1	0	TTC13	229181088	0.864000	0.29904	0.003000	0.11579	0.032000	0.12392	1.922000	0.40045	0.882000	0.36016	0.289000	0.19496	GGG		0.771	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		G	231114465	C	G	231114465	3	3	198	1	0	0	0	0	1	0	0	0	16680	652	23	3	2562	3	TTC13	1	231114465	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	45106376	231114465	18136156	7	11398											
OR2G3	81469	genome.wustl.edu	37	1	247769215	247769215	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr1:247769215A>C	ENST00000320002.2	+	1	360	c.328A>C	c.(328-330)Act>Cct	p.T110P	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACTGGGCTCCACTGAATGTAT	0.493																																																0			1											273	239	251					1																	247769215		2203	4300	6503	245835838	SO:0001583	missense	81469			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.328A>C	1.37:g.247769215A>C	ENSP00000326301:p.Thr110Pro		245835838	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817483	0.50633	.	.	ENSG00000177476	ENST00000320002	T	0.02236	4.38	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	U	0.002011	T	0.17323	0.0416	H	0.96239	3.79	0.09310	N	1	D	0.69078	0.997	D	0.69654	0.965	T	0.13019	-1.0525	10	0.87932	D	0	.	10.6394	0.45584	1.0:0.0:0.0:0.0	.	110	Q8NGZ4	OR2G3_HUMAN	P	110	ENSP00000326301:T110P	ENSP00000326301:T110P	T	+	1	0	OR2G3	245835838	0.000000	0.05858	0.950000	0.38849	0.981000	0.71138	0.268000	0.18571	1.674000	0.50907	0.403000	0.27427	ACT		0.493	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			C	247769215	A	C	247769215	3	2	198	1	0	0	0	0	1	0	0	0	10999	159	6	5	330	5	OR2G3	1	247769215	Missense_Mutation	SNP	A	TCGA-23-2641-01A-01D-1526-09	16654750	247769215	1481406	8	11399											
C2orf53	339779	genome.wustl.edu	37	2	27360035	27360035	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr2:27360035G>T	ENST00000335524.3	-	3	1688	c.1163C>A	c.(1162-1164)tCc>tAc	p.S388Y	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000260643.2_5'Flank|PREB_ENST00000406567.3_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		388										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTTCAGGGAGGTAGTGAC	0.587																																																0			2											86	94	91					2																	27360035		2203	4300	6503	27213539	SO:0001583	missense	339779																														ENST00000335524.3:c.1163C>A	2.37:g.27360035G>T	ENSP00000335017:p.Ser388Tyr		27213539	Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	G	3.889	-0.024451	0.07589	.	.	ENSG00000186143	ENST00000335524	T	0.39997	1.05	4.85	1.81	0.25067	.	0.000000	0.35525	N	0.003153	T	0.29389	0.0732	L	0.29908	0.895	0.09310	N	1	P	0.44044	0.825	P	0.44897	0.463	T	0.12604	-1.0541	10	0.66056	D	0.02	-1.6215	3.2806	0.06913	0.2224:0.0:0.5705:0.2071	.	388	Q53SZ7	CB053_HUMAN	Y	388	ENSP00000335017:S388Y	ENSP00000335017:S388Y	S	-	2	0	C2orf53	27213539	0.004000	0.15560	0.008000	0.14137	0.097000	0.18754	0.076000	0.14712	0.631000	0.30412	-0.258000	0.10820	TCC		0.587	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			T	27360035	G	T	27360035	3	4	198	1	0	0	0	0	1	0	0	0	2174	1174	41	3	79	3	C2orf53	2	27360035	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09		27360035	215839338	9	11400											
CLEC4F	165530	genome.wustl.edu	37	2	71046519	71046519	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr2:71046519T>A	ENST00000272367.2	-	3	312	c.236A>T	c.(235-237)aAc>aTc	p.N79I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.N79I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	79					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCCAGTAATGTTGTCTCCCAG	0.527																																					Colon(107;10 2157 6841 26035)											0			2											130	111	117					2																	71046519		2203	4300	6503	70900027	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.236A>T	2.37:g.71046519T>A	ENSP00000272367:p.Asn79Ile		70900027	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.113910	0.37339	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.02498	4.31;4.27	3.59	-1.78	0.07957	.	.	.	.	.	T	0.02047	0.0064	L	0.46157	1.445	0.09310	N	1	P;P	0.36616	0.561;0.561	B;B	0.31245	0.126;0.126	T	0.44726	-0.9309	9	0.10902	T	0.67	.	3.135	0.06436	0.2038:0.3417:0.0:0.4545	.	79;79	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	I	79	ENSP00000272367:N79I;ENSP00000390581:N79I	ENSP00000272367:N79I	N	-	2	0	CLEC4F	70900027	0.003000	0.15002	0.000000	0.03702	0.545000	0.35147	-0.008000	0.12788	-0.314000	0.08716	0.254000	0.18369	AAC		0.527	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		A	71046519	T	A	71046519	3	1	198	1	0	0	0	0	1	0	0	0	3516	1725	60	5	1553	5	CLEC4F	2	71046519	Missense_Mutation	SNP	T	TCGA-23-2641-01A-01D-1526-09	43686484	71046519	172152854	10	11401											
SCN3A	6328	genome.wustl.edu	37	2	165947014	165947014	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr2:165947014G>A	ENST00000360093.3	-	28	6140	c.5649C>T	c.(5647-5649)ccC>ccT	p.P1883P	SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000283254.7_Silent_p.P1883P|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Silent_p.P1834P|SCN3A_ENST00000540861.1_Silent_p.P366P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1883					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGACTTTGGAGGGGTTTGATG	0.403																																																0			2											74	69	71					2																	165947014		2203	4300	6503	165655260	SO:0001819	synonymous_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5649C>T	2.37:g.165947014G>A			165655260	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		A	165947014	G	A	165947014	2	1	198	1	0	0	0	0	0	0	0	1	13921	987	35	2		2	SCN3A	2	165947014	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	94900495	165947014	77252359	11	11402											
ZNF385B	151126	genome.wustl.edu	37	2	180634384	180634384	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr2:180634384G>A	ENST00000410066.1	-	3	702	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	33	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACAGAAGGAGAAAAGAATTT	0.478																																					Colon(155;204 2491 32774 51842)											0			2											88	84	85					2																	180634384		2203	4300	6503	180342629	SO:0001819	synonymous_variant	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.99C>T	2.37:g.180634384G>A			180342629	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	CCDS33339.1																																																																																				0.478	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		A	180634384	G	A	180634384	2	1	198	1	0	0	0	0	0	0	0	1	17877	933	33	2		2	ZNF385B	2	180634384	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	14687370	180634384	62564989	12	11403											
SCN11A	11280	genome.wustl.edu	37	3	38926838	38926838	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr3:38926838C>T	ENST00000302328.3	-	17	3203	c.3005G>A	c.(3004-3006)gGc>gAc	p.G1002D	SCN11A_ENST00000450244.1_Missense_Mutation_p.G1002D|SCN11A_ENST00000444237.2_Missense_Mutation_p.G1002D|SCN11A_ENST00000456224.3_Missense_Mutation_p.G964D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1002					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATCCAAAGCCATCCTGAAG	0.433																																																0			3											161	147	152					3																	38926838		2203	4300	6503	38901842	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3005G>A	3.37:g.38926838C>T	ENSP00000307599:p.Gly1002Asp		38901842	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	5.149	0.213111	0.09757	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.06	-1.73	0.08081	Sodium ion transport-associated (1);	10.251200	0.00481	N	0.000122	T	0.60996	0.2312	N	0.02539	-0.55	0.09310	N	1	B	0.24768	0.111	B	0.26693	0.072	T	0.54801	-0.8239	10	0.45353	T	0.12	.	1.6757	0.02821	0.2581:0.2556:0.3606:0.1257	.	1002	Q9UI33	SCNBA_HUMAN	D	1002;1002;964;1002	ENSP00000307599:G1002D;ENSP00000400945:G1002D;ENSP00000416757:G964D;ENSP00000408028:G1002D	ENSP00000307599:G1002D	G	-	2	0	SCN11A	38901842	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.380000	0.20602	-0.200000	0.10300	-0.998000	0.02512	GGC		0.433	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		T	38926838	C	T	38926838	3	4	198	1	0	0	0	0	1	0	0	0	13916	739	26	2	2410	2	SCN11A	3	38926838	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09		38926838	159095592	13	11404											
TF	7018	genome.wustl.edu	37	3	133483731	133483731	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr3:133483731G>T	ENST00000402696.3	+	11	1795	c.1310G>T	c.(1309-1311)tGt>tTt	p.C437F	TF_ENST00000264998.3_Missense_Mutation_p.C310F	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	437	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AGCGATAATTGTGAGGATACA	0.363																																																0			3											139	153	148					3																	133483731		2203	4300	6503	134966421	SO:0001583	missense	7018				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1310G>T	3.37:g.133483731G>T	ENSP00000385834:p.Cys437Phe		134966421	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737185	0.30774	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.05855	3.38;3.38	5.24	5.24	0.73138	.	0.342854	0.39083	N	0.001468	T	0.16981	0.0408	M	0.92555	3.32	0.28962	N	0.889753	B	0.09022	0.002	B	0.14578	0.011	T	0.04268	-1.0964	10	0.59425	D	0.04	-8.247	14.5151	0.67814	0.0:0.0:1.0:0.0	.	437	P02787	TRFE_HUMAN	F	437;310	ENSP00000385834:C437F;ENSP00000264998:C310F	ENSP00000264998:C310F	C	+	2	0	TF	134966421	0.978000	0.34361	0.125000	0.21846	0.002000	0.02628	4.347000	0.59373	2.884000	0.98904	0.655000	0.94253	TGT		0.363	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		T	133483731	G	T	133483731	3	4	198	1	0	0	0	0	1	0	0	0	15785	1377	48	3	1352	3	TF	3	133483731	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	94556893	133483731	64538699	14	11405											
TRIM42	287015	genome.wustl.edu	37	3	140406647	140406647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr3:140406647G>T	ENST00000286349.3	+	3	1314	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	375						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAAGCGAAAAGAGATCAGAAA	0.398																																																0			3											66	66	66					3																	140406647		2203	4300	6503	141889337	SO:0001587	stop_gained	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1123G>T	3.37:g.140406647G>T	ENSP00000286349:p.Glu375*		141889337	A1L4B4|Q8N832|Q8NDL3	Nonsense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	37	6.141626	0.97320	.	.	ENSG00000155890	ENST00000286349	.	.	.	5.63	4.75	0.60458	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.6167	10.9826	0.47504	0.0884:0.0:0.9116:0.0	.	.	.	.	X	375	.	ENSP00000286349:E375X	E	+	1	0	TRIM42	141889337	1.000000	0.71417	0.997000	0.53966	0.592000	0.36648	3.127000	0.50484	2.676000	0.91093	0.555000	0.69702	GAG		0.398	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		T	140406647	G	T	140406647	4	4	198	1	0	0	0	0	0	1	0	0	16517	943	33	3	1133	3	TRIM42	3	140406647	Nonsense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	6922916	140406647	57615783	15	11406											
MCF2L2	23101	genome.wustl.edu	37	3	183013187	183013187	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr3:183013187G>C	ENST00000328913.3	-	13	1873	c.1576C>G	c.(1576-1578)Ctg>Gtg	p.L526V	B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000447025.2_Missense_Mutation_p.L526V|MCF2L2_ENST00000473233.1_Missense_Mutation_p.L526V|MCF2L2_ENST00000414362.2_Missense_Mutation_p.L526V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	526							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTGGCTGCCAGTTTCATCAGA	0.498																																																0			3											181	153	163					3																	183013187		2203	4300	6503	184495881	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1576C>G	3.37:g.183013187G>C	ENSP00000328118:p.Leu526Val		184495881	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063246	0.55432	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.07800	4.34;4.36;3.44;3.16	4.82	2.08	0.27032	.	0.000000	0.64402	D	0.000009	T	0.24314	0.0589	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.78314	0.919;0.991	T	0.00311	-1.1827	10	0.54805	T	0.06	.	9.6793	0.40061	0.2249:0.0:0.7751:0.0	.	526;526	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	V	526;526;526;62;526	ENSP00000328118:L526V;ENSP00000420070:L526V;ENSP00000388190:L526V;ENSP00000414131:L526V	ENSP00000328118:L526V	L	-	1	2	MCF2L2	184495881	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.316000	0.51960	0.277000	0.22141	-0.141000	0.14075	CTG		0.498	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		C	183013187	G	C	183013187	3	2	198	1	0	0	0	0	1	0	0	0	9380	1020	36	3	1840	3	MCF2L2	3	183013187	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	42606540	183013187	15009243	16	11407											
OSTalpha	200931	genome.wustl.edu	37	3	195955761	195955761	+	Silent	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr3:195955761C>T	ENST00000296327.5	+	6	812	c.603C>T	c.(601-603)ctC>ctT	p.L201L		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	201					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GCCTGTTTCTCGTCCCCGACG	0.522																																																0			3											128	112	117					3																	195955761		2203	4300	6503	197440158	SO:0001819	synonymous_variant	200931				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.603C>T	3.37:g.195955761C>T			197440158	Q6ZMC7	Silent	SNP	ENST00000296327.5	37	CCDS3314.1																																																																																				0.522	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		T	195955761	C	T	195955761	2	4	198	1	0	0	0	0	0	0	0	1	11300	871	31	1		1	OSTalpha	3	195955761	Silent	SNP	C	TCGA-23-2641-01A-01D-1526-09	12942574	195955761	2066669	17	11408											
DCHS2	54798	genome.wustl.edu	37	4	155219074	155219074	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr4:155219074T>A	ENST00000357232.4	-	18	5026	c.5027A>T	c.(5026-5028)gAa>gTa	p.E1676V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1676	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCTTCTCCTTCCATGTGAAT	0.448																																																0			4											79	79	79					4																	155219074		2203	4300	6503	155438524	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5027A>T	4.37:g.155219074T>A	ENSP00000349768:p.Glu1676Val		155438524	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054838	0.75960	.	.	ENSG00000197410	ENST00000357232	T	0.60920	0.15	5.82	5.82	0.92795	Cadherin (1);Cadherin-like (1);	0.245550	0.34700	N	0.003744	T	0.55737	0.1939	L	0.27053	0.805	0.80722	D	1	D	0.60575	0.988	P	0.51657	0.676	T	0.54227	-0.8325	10	0.33141	T	0.24	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	1676	Q6V1P9	PCD23_HUMAN	V	1676	ENSP00000349768:E1676V	ENSP00000349768:E1676V	E	-	2	0	DCHS2	155438524	0.996000	0.38824	1.000000	0.80357	0.852000	0.48524	2.224000	0.42945	2.232000	0.73038	0.528000	0.53228	GAA		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155219074	T	A	155219074	3	1	198	1	0	0	0	0	1	0	0	0	4288	1783	62	5	3755	5	DCHS2	4	155219074	Missense_Mutation	SNP	T	TCGA-23-2641-01A-01D-1526-09		155219074	35935202	18	11409											
ACCN5	51802	genome.wustl.edu	37	4	156751190	156751190	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr4:156751190C>A	ENST00000537611.2	-	10	1382	c.1336G>T	c.(1336-1338)Ggt>Tgt	p.G446C		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	446					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										AGCTGACCACCAAGATCTGCT	0.299																																																0			4											21	20	20					4																	156751190		2203	4297	6500	156970640	SO:0001583	missense	51802			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1336G>T	4.37:g.156751190C>A	ENSP00000442477:p.Gly446Cys		156970640		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989525	0.53934	.	.	ENSG00000256394	ENST00000537611	D	0.85955	-2.05	4.25	3.41	0.39046	.	0.000000	0.64402	D	0.000004	D	0.93887	0.8044	H	0.94808	3.585	0.48696	D	0.999691	D	0.89917	1.0	D	0.97110	1.0	D	0.94890	0.8047	10	0.87932	D	0	-21.7362	13.0059	0.58703	0.0:0.9191:0.0:0.0809	.	446	Q9NY37	ACCN5_HUMAN	C	446	ENSP00000442477:G446C	ENSP00000264432:G446C	G	-	1	0	ACCN5	156970640	0.999000	0.42202	0.664000	0.29753	0.847000	0.48162	3.642000	0.54367	1.080000	0.41073	0.655000	0.94253	GGT		0.299	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			A	156751190	C	A	156751190	3	1	198	1	0	0	0	0	1	0	0	0	132	594	21	3	185	3	ACCN5	4	156751190	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	1532116	156751190	34403086	19	11410											
CLPTM1L	81037	genome.wustl.edu	37	5	1335172	1335172	+	Splice_Site	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr5:1335172C>T	ENST00000320895.5	-	6	1053	c.796G>A	c.(796-798)Ggg>Agg	p.G266R	CLPTM1L_ENST00000507807.1_Splice_Site_p.G133R|CLPTM1L_ENST00000320927.6_Splice_Site_p.G266R	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	266					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CGGCACATACCGAACTGCTGC	0.682																																																0			5											55	55	55					5																	1335172		2203	4300	6503	1388172	SO:0001630	splice_region_variant	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.796+1G>A	5.37:g.1335172C>T			1388172	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615724	0.46631	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.59224	0.57;0.4;0.28	4.13	1.32	0.21799	.	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77381	-0.2609	9	.	.	.	-20.8944	10.8587	0.46815	0.0:0.8158:0.0:0.1842	.	266;133	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	R	266;133;266	ENSP00000313854:G266R;ENSP00000423321:G133R;ENSP00000315196:G266R	.	G	-	1	0	CLPTM1L	1388172	1.000000	0.71417	0.758000	0.31321	0.245000	0.25701	7.218000	0.77991	0.017000	0.15025	0.643000	0.83706	GGG		0.682	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782	Missense_Mutation	T	1335172	C	T	1335172	5	4	198	1	0	0	0	0	0	0	1	0	3555	666	23	1	868	1	CLPTM1L	5	1335172	Splice_Site	SNP	C	TCGA-23-2641-01A-01D-1526-09		1335172	179580088	20	11411											
C5orf42	65250	genome.wustl.edu	37	5	37180169	37180169	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr5:37180169A>G	ENST00000508244.1	-	27	5780	c.5687T>C	c.(5686-5688)gTa>gCa	p.V1896A	C5orf42_ENST00000425232.2_Missense_Mutation_p.V1896A|C5orf42_ENST00000274258.7_Missense_Mutation_p.V776A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1896						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAATGCTTCTACTTCTAAAAG	0.259																																																0			5											55	61	59					5																	37180169		2184	4264	6448	37215926	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5687T>C	5.37:g.37180169A>G	ENSP00000421690:p.Val1896Ala		37215926	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.358107	0.01245	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.23754	1.9;1.9;1.9;1.89	5.5	-3.73	0.04398	.	1.500650	0.04554	N	0.390361	T	0.12178	0.0296	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.14578	0.011;0.004	T	0.24083	-1.0170	10	0.02654	T	1	.	2.2987	0.04156	0.3435:0.3861:0.1459:0.1244	.	1896;776	E9PH94;Q9H799	.;CE042_HUMAN	A	1896;1896;776;944;776	ENSP00000421690:V1896A;ENSP00000389014:V1896A;ENSP00000274258:V776A;ENSP00000424223:V944A	ENSP00000274258:V776A	V	-	2	0	C5orf42	37215926	0.190000	0.23276	0.000000	0.03702	0.162000	0.22319	0.245000	0.18142	-0.949000	0.03663	-0.256000	0.11100	GTA		0.259	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		G	37180169	A	G	37180169	3	3	198	1	0	0	0	0	1	0	0	0	2301	391	14	4	4006	4	C5orf42	5	37180169	Missense_Mutation	SNP	A	TCGA-23-2641-01A-01D-1526-09	35844997	37180169	143735091	21	11412											
PCDHA9	9752	genome.wustl.edu	37	5	140229994	140229994	+	Silent	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr5:140229994C>T	ENST00000532602.1	+	1	2947	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.D638D|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.667																																					Melanoma(55;1800 1972 14909)											0			5											64	66	65					5																	140229994		2197	4272	6469	140210178	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1914C>T	5.37:g.140229994C>T			140210178	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		T	140229994	C	T	140229994	2	4	198	1	0	0	0	0	0	0	0	1	11531	535	19	1		1	PCDHA9	5	140229994	Silent	SNP	C	TCGA-23-2641-01A-01D-1526-09	103049825	140229994	40685266	22	11413											
PCDHB9	57717	genome.wustl.edu	37	5	140567091	140567091	+	IGR	SNP	G	G	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr5:140567091G>T	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)			AACCAGGGTGGTTTCCGATGA	0.502																																																0			5											24	25	25					5																	140567091		2012	4169	6181	140547275	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.140567091G>T			140547275	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.502	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140567091	G	T	140567091	1	4	198	0	1	0	0	0	0	0	0	0	11549	1261	44	3		3	PCDHB9	5	140567091	IGR	SNP	G	TCGA-23-2641-01A-01D-1526-09	337097	140567091	40348169	23	11414											
PCDHGC5	56097	genome.wustl.edu	37	5	140869355	140869355	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr5:140869355A>G	ENST00000252087.1	+	1	548	c.548A>G	c.(547-549)aAg>aGg	p.K183R	PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	183	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAATGTGAAGACCCTAAAA	0.537																																																0			5											43	47	46					5																	140869355		2203	4300	6503	140849539	SO:0001583	missense	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.548A>G	5.37:g.140869355A>G	ENSP00000252087:p.Lys183Arg		140849539	Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237183	0.22711	.	.	ENSG00000240764	ENST00000252087	T	0.20069	2.1	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000013	T	0.31389	0.0795	N	0.20328	0.56	0.30939	N	0.726033	D;D	0.71674	0.997;0.998	D;D	0.70716	0.963;0.97	T	0.17899	-1.0354	10	0.34782	T	0.22	.	16.3164	0.82930	1.0:0.0:0.0:0.0	.	183;183	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	R	183	ENSP00000252087:K183R	ENSP00000252087:K183R	K	+	2	0	PCDHGC5	140849539	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.101000	0.76997	2.330000	0.79161	0.533000	0.62120	AAG		0.537	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		G	140869355	A	G	140869355	3	3	198	1	0	0	0	0	1	0	0	0	11571	72	3	4	550	4	PCDHGC5	5	140869355	Missense_Mutation	SNP	A	TCGA-23-2641-01A-01D-1526-09	302264	140869355	40045905	24	11415											
GRPEL2	134266	genome.wustl.edu	37	5	148730727	148730727	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr5:148730727G>T	ENST00000329271.3	+	4	670	c.560G>T	c.(559-561)gGt>gTt	p.G187V	GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	187					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCAGCTGGTGTTGGGGTG	0.527																																																0			5											131	124	126					5																	148730727		2203	4300	6503	148710920	SO:0001583	missense	134266			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.560G>T	5.37:g.148730727G>T	ENSP00000329558:p.Gly187Val		148710920	B4DFA6|Q49AJ6	Missense_Mutation	SNP	ENST00000329271.3	37	CCDS4295.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898000	0.52227	.	.	ENSG00000164284	ENST00000329271	.	.	.	5.9	3.89	0.44902	GrpE nucleotide exchange factor, head (2);	0.207319	0.41712	D	0.000834	T	0.39279	0.1072	L	0.42744	1.35	0.80722	D	1	P	0.36354	0.549	B	0.36534	0.227	T	0.26849	-1.0091	9	0.36615	T	0.2	-18.0841	4.2346	0.10620	0.4431:0.0:0.5569:0.0	.	187	Q8TAA5	GRPE2_HUMAN	V	187	.	ENSP00000329558:G187V	G	+	2	0	GRPEL2	148710920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.665000	0.54532	1.512000	0.48834	0.644000	0.83932	GGT		0.527	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1	NM_152407		T	148730727	G	T	148730727	3	4	198	1	0	0	0	0	1	0	0	0	6807	1261	44	3	574	3	GRPEL2	5	148730727	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	7861372	148730727	32184533	25	11416											
CDHR2	54825	genome.wustl.edu	37	5	176017575	176017575	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr5:176017575G>C	ENST00000510636.1	+	28	3700	c.3426G>C	c.(3424-3426)gaG>gaC	p.E1142D	CDHR2_ENST00000261944.5_Missense_Mutation_p.E1142D|CDHR2_ENST00000506348.1_Missense_Mutation_p.E1142D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1142					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCTCCCAGGAGAGCCAGGAGT	0.587																																																0			5											158	136	143					5																	176017575		2203	4300	6503	175950181	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3426G>C	5.37:g.176017575G>C	ENSP00000424565:p.Glu1142Asp		175950181	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	g	5.205	0.223302	0.09863	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56444	0.46;0.46;0.46	4.61	2.77	0.32553	.	.	.	.	.	T	0.42177	0.1191	L	0.49126	1.545	0.18873	N	0.999987	B	0.02656	0.0	B	0.04013	0.001	T	0.30416	-0.9979	9	0.17832	T	0.49	-11.5487	7.6984	0.28608	0.0:0.1805:0.6324:0.1871	.	1142	Q9BYE9	CDHR2_HUMAN	D	1142	ENSP00000424565:E1142D;ENSP00000261944:E1142D;ENSP00000421078:E1142D	ENSP00000261944:E1142D	E	+	3	2	CDHR2	175950181	0.110000	0.22057	0.119000	0.21687	0.182000	0.23217	0.761000	0.26489	0.373000	0.24621	0.537000	0.68136	GAG		0.587	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		C	176017575	G	C	176017575	3	2	198	1	0	0	0	0	1	0	0	0	3119	933	33	3	3532	3	CDHR2	5	176017575	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	27286848	176017575	4897685	26	11417											
GPRIN1	114787	genome.wustl.edu	37	5	176024996	176024996	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr5:176024996C>A	ENST00000303991.4	-	2	2017	c.1840G>T	c.(1840-1842)Ggg>Tgg	p.G614W		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	614					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGACTCCCCTTCTCTAGA	0.587																																																0			5											66	67	67					5																	176024996		2203	4300	6503	175957602	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1840G>T	5.37:g.176024996C>A	ENSP00000305839:p.Gly614Trp		175957602	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893907	0.52121	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.09445	2.98	4.26	2.25	0.28309	.	0.432942	0.17204	N	0.182995	T	0.22820	0.0551	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.01232	-1.1411	10	0.66056	D	0.02	0.0053	7.1739	0.25734	0.0:0.7218:0.1744:0.1038	.	614	Q7Z2K8	GRIN1_HUMAN	W	614	ENSP00000305839:G614W	ENSP00000305839:G614W	G	-	1	0	GPRIN1	175957602	0.000000	0.05858	0.018000	0.16275	0.011000	0.07611	0.046000	0.14035	1.926000	0.55796	0.455000	0.32223	GGG		0.587	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		A	176024996	C	A	176024996	3	1	198	1	0	0	0	0	1	0	0	0	6729	623	22	3	1190	3	GPRIN1	5	176024996	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	7421	176024996	4890264	27	11418											
HIST1H3D	8351	genome.wustl.edu	37	6	26197305	26197305	+	Silent	SNP	C	C	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr6:26197305C>G	ENST00000356476.2	-	1	173	c.174G>C	c.(172-174)tcG>tcC	p.S58S	HIST1H3D_ENST00000377831.5_Silent_p.S58S|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	58					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCAGCTCGGTCGACTTCTGGT	0.627																																					GBM(108;3816 4467)											0			6											62	64	63					6																	26197305		2203	4300	6503	26305284	SO:0001819	synonymous_variant	8351			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"Histones / Replication-dependent"	4767	protein-coding gene	gene with protein product		602811	"H3 histone family, member B", "histone 1, H3d"	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.174G>C	6.37:g.26197305C>G			26305284	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000356476.2	37	CCDS4590.1																																																																																				0.627	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		G	26197305	C	G	26197305	2	3	198	1	0	0	0	0	0	0	0	1	7158	871	31	3		3	HIST1H3D	6	26197305	Silent	SNP	C	TCGA-23-2641-01A-01D-1526-09		26197305	144917762	28	11419											
OR10C1	442194	genome.wustl.edu	37	6	29408282	29408282	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr6:29408282T>C	ENST00000444197.2	+	1	1200	c.490T>C	c.(490-492)Tct>Cct	p.S164P	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTTCATCTTCTCTTTGCCCTT	0.602																																																0			6											114	128	123					6																	29408282		1510	2709	4219	29516261	SO:0001583	missense	442194				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.490T>C	6.37:g.29408282T>C	ENSP00000419119:p.Ser164Pro		29516261	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995885	0.35226	.	.	ENSG00000206474	ENST00000444197	T	0.00174	8.62	3.53	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001565	T	0.00144	0.0004	L	0.58669	1.825	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.35076	-0.9803	10	0.72032	D	0.01	.	3.3068	0.07002	0.1754:0.1989:0.0:0.6257	.	164	Q96KK4	O10C1_HUMAN	P	164	ENSP00000419119:S164P	ENSP00000419119:S164P	S	+	1	0	OR10C1	29516261	0.000000	0.05858	1.000000	0.80357	0.497000	0.33675	-2.245000	0.01192	1.473000	0.48159	0.416000	0.27883	TCT		0.602	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			C	29408282	T	C	29408282	3	2	198	1	0	0	0	0	1	0	0	0	10898	1551	54	4	492	4	OR10C1	6	29408282	Missense_Mutation	SNP	T	TCGA-23-2641-01A-01D-1526-09	3210977	29408282	141706785	29	11420											
CSNK2B	1460	genome.wustl.edu	37	6	31637142	31637142	+	Silent	SNP	C	C	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr6:31637142C>G	ENST00000375882.2	+	6	570	c.414C>G	c.(412-414)ccC>ccG	p.P138P	LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375866.2_Silent_p.P138P|CSNK2B_ENST00000375865.2_Silent_p.P138P|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Silent_p.P157P|CSNK2B-LY6G5B-1181_ENST00000375880.2_Silent_p.P138P	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	138					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						TCTACTGCCCCAAGTGCATGG	0.547																																																0			6											87	69	76					6																	31637142		2203	4300	6503	31745121	SO:0001819	synonymous_variant	1460			M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.414C>G	6.37:g.31637142C>G			31745121	B0UXA9|P07312|P13862|Q4VX47	Silent	SNP	ENST00000375882.2	37	CCDS4712.1																																																																																				0.547	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		G	31637142	C	G	31637142	2	3	198	1	0	0	0	0	0	0	0	1	3959	581	21	3		3	CSNK2B	6	31637142	Silent	SNP	C	TCGA-23-2641-01A-01D-1526-09	2228860	31637142	139477925	30	11421											
C4A	720	genome.wustl.edu	37	6	31963527	31963527	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr6:31963527G>A	ENST00000428956.2	+	25	3270	c.3186G>A	c.(3184-3186)gcG>gcA	p.A1062A	C4A_ENST00000498271.1_Silent_p.A1062A	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1062					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTCGGAAGGCGGATGGTTCCT	0.617																																																0			6											74	62	67					6																	31963527		1498	2653	4151	32071506	SO:0001819	synonymous_variant	721			L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"Blood group antigens", "Complement system"	1323	protein-coding gene	gene with protein product		120810	"complement component 4A"				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3186G>A	6.37:g.31963527G>A			32071506	A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000428956.2	37	CCDS47404.1																																																																																				0.617	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		A	31963527	G	A	31963527	2	1	198	1	0	0	0	0	0	0	0	1	2247	1103	39	1		1	C4A	6	31963527	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	326385	31963527	139151540	31	11422											
PBX2	5089	genome.wustl.edu	37	6	32156101	32156101	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr6:32156101G>C	ENST00000375050.4	-	3	746	c.476C>G	c.(475-477)tCg>tGg	p.S159W	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	159					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCGATAGTCCGAGTGTTCGAT	0.607																																																0			6											72	77	75					6																	32156101		2203	4300	6503	32264079	SO:0001583	missense	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.476C>G	6.37:g.32156101G>C	ENSP00000364190:p.Ser159Trp		32264079	A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487525	0.84854	.	.	ENSG00000204304	ENST00000375050	T	0.34072	1.38	4.89	4.89	0.63831	PBX (1);	0.000000	0.64402	D	0.000019	T	0.56717	0.2004	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.972;0.999	T	0.64732	-0.6338	10	0.87932	D	0	-22.2054	15.5467	0.76108	0.0:0.0:1.0:0.0	.	159;159	Q7KZE5;P40425	.;PBX2_HUMAN	W	159	ENSP00000364190:S159W	ENSP00000364190:S159W	S	-	2	0	PBX2	32264079	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.450000	0.97607	2.257000	0.74773	0.462000	0.41574	TCG		0.607	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			C	32156101	G	C	32156101	3	2	198	1	0	0	0	0	1	0	0	0	11493	1059	37	3	844	3	PBX2	6	32156101	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	192574	32156101	138958966	32	11423											
ZBTB22	9278	genome.wustl.edu	37	6	33282987	33282987	+	Silent	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr6:33282987C>T	ENST00000431845.2	-	2	1858	c.1707G>A	c.(1705-1707)ctG>ctA	p.L569L	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.L569L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGACCCCGCCCAGGCGGTGCC	0.687																																																0			6											26	30	28					6																	33282987		2200	4296	6496	33390965	SO:0001819	synonymous_variant	9278			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1707G>A	6.37:g.33282987C>T			33390965	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	CCDS4775.1																																																																																				0.687	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			T	33282987	C	T	33282987	2	4	198	1	0	0	0	0	0	0	0	1	17530	581	21	2		2	ZBTB22	6	33282987	Silent	SNP	C	TCGA-23-2641-01A-01D-1526-09	1126886	33282987	137832080	33	11424											
DST	667	genome.wustl.edu	37	6	56504509	56504509	+	Silent	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr6:56504509C>T	ENST00000361203.3	-	16	2056	c.2049G>A	c.(2047-2049)caG>caA	p.Q683Q	DST_ENST00000518935.1_Silent_p.Q357Q|DST_ENST00000446842.2_Silent_p.Q357Q|DST_ENST00000370769.4_Silent_p.Q683Q|DST_ENST00000370754.5_Silent_p.Q861Q|DST_ENST00000312431.6_Silent_p.Q683Q|DST_ENST00000370765.6_Silent_p.Q357Q|DST_ENST00000244364.6_Silent_p.Q357Q|DST_ENST00000421834.2_Silent_p.Q683Q|DST_ENST00000370788.2_Silent_p.Q683Q			Q03001	DYST_HUMAN	dystonin	683					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTTGCATACTGACTCTCTA	0.318																																																0			6											122	138	132					6																	56504509		2202	4297	6499	56612468	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2049G>A	6.37:g.56504509C>T			56612468	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																					0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56504509	C	T	56504509	2	4	198	1	0	0	0	0	0	0	0	1	4783	564	20	2		2	DST	6	56504509	Silent	SNP	C	TCGA-23-2641-01A-01D-1526-09	23221522	56504509	114610558	34	11425											
ABCB1	5243	genome.wustl.edu	37	7	87173486	87173486	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr7:87173486G>T	ENST00000265724.3	-	18	2587	c.2170C>A	c.(2170-2172)Ctg>Atg	p.L724M	ABCB1_ENST00000543898.1_Missense_Mutation_p.L660M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	724	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCTGGTTGCAGGCCTCCATTT	0.358																																																0			7											109	109	109					7																	87173486		2203	4300	6503	87011422	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2170C>A	7.37:g.87173486G>T	ENSP00000265724:p.Leu724Met		87011422	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	8.637	0.894987	0.17613	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90385	-2.66;-2.66	6.01	-1.49	0.08718	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.391259	0.26116	N	0.026244	D	0.83321	0.5229	L	0.28115	0.83	0.25520	N	0.987377	B;B	0.27882	0.192;0.183	B;B	0.39562	0.118;0.303	T	0.73874	-0.3845	10	0.49607	T	0.09	-2.5009	4.8843	0.13696	0.4012:0.0:0.1676:0.4312	.	660;724	B5AK60;P08183	.;MDR1_HUMAN	M	505;724;660	ENSP00000265724:L724M;ENSP00000444095:L660M	ENSP00000265724:L724M	L	-	1	2	ABCB1	87011422	0.001000	0.12720	0.731000	0.30826	0.453000	0.32348	-0.095000	0.11077	-0.339000	0.08401	-0.145000	0.13849	CTG		0.358	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		T	87173486	G	T	87173486	3	4	198	1	0	0	0	0	1	0	0	0	40	991	35	3	1720	3	ABCB1	7	87173486	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09		87173486	71965177	35	11426											
GIGYF1	64599	genome.wustl.edu	37	7	100279859	100279859	+	Splice_Site	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr7:100279859C>T	ENST00000275732.5	-	22	3971		c.e22-1		GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1						insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCCATGGGCACTGCAGGATGA	0.642																																																0			7											60	65	64					7																	100279859		2203	4300	6503	100117795	SO:0001630	splice_region_variant	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2762-1G>A	7.37:g.100279859C>T			100117795	Q6Y7W7|Q8WZ38	Splice_Site	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967993	0.53507	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6886	0.77430	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GIGYF1	100117795	1.000000	0.71417	0.989000	0.46669	0.680000	0.39746	7.320000	0.79064	2.562000	0.86427	0.555000	0.69702	.		0.642	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574	Intron	T	100279859	C	T	100279859	5	4	198	1	0	0	0	0	0	0	1	0	6377	579	20	2	358	2	GIGYF1	7	100279859	Splice_Site	SNP	C	TCGA-23-2641-01A-01D-1526-09	13106373	100279859	58858804	36	11427											
CUX1	1523	genome.wustl.edu	37	7	101833140	101833140	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr7:101833140G>A	ENST00000292535.7	+	12	1103	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	CUX1_ENST00000393824.3_Silent_p.K327K|CUX1_ENST00000437600.4_Silent_p.K364K|CUX1_ENST00000360264.3_Silent_p.K366K|CUX1_ENST00000549414.2_Silent_p.K355K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Silent_p.K355K|CUX1_ENST00000546411.2_Silent_p.K355K|CUX1_ENST00000547394.2_Silent_p.K350K|CUX1_ENST00000425244.2_Silent_p.K320K|CUX1_ENST00000556210.1_Silent_p.K355K|CUX1_ENST00000292538.4_Silent_p.K366K	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	355					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAGGTGAAGAAAGAGCTGA	0.532																																																0			7											115	110	112					7																	101833140		2203	4300	6503	101619860	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1065G>A	7.37:g.101833140G>A			101619860	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	CCDS5721.1																																																																																				0.532	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		A	101833140	G	A	101833140	2	1	198	1	0	0	0	0	0	0	0	1	4064	933	33	2		2	CUX1	7	101833140	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	1553281	101833140	57305523	37	11428											
TAS2R16	50833	genome.wustl.edu	37	7	122635555	122635555	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr7:122635555A>G	ENST00000249284.2	-	1	199	c.134T>C	c.(133-135)gTg>gCg	p.V45A		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	45					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCATGTCCACAGGCATCAG	0.438																																																0			7											66	63	64					7																	122635555		2203	4300	6503	122422791	SO:0001583	missense	50833			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.134T>C	7.37:g.122635555A>G	ENSP00000249284:p.Val45Ala		122422791	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	0.540	-0.853963	0.02630	.	.	ENSG00000128519	ENST00000249284	T	0.37411	1.2	4.61	2.29	0.28610	.	0.460841	0.18577	N	0.137161	T	0.23727	0.0574	L	0.50919	1.6	0.21020	N	0.999804	B	0.26577	0.153	B	0.25987	0.065	T	0.29701	-1.0003	10	0.02654	T	1	.	5.6672	0.17702	0.7874:0.0:0.2126:0.0	.	45	Q9NYV7	T2R16_HUMAN	A	45	ENSP00000249284:V45A	ENSP00000249284:V45A	V	-	2	0	TAS2R16	122422791	0.002000	0.14202	0.233000	0.24025	0.776000	0.43924	0.676000	0.25247	0.902000	0.36520	0.533000	0.62120	GTG		0.438	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		G	122635555	A	G	122635555	3	3	198	1	0	0	0	0	1	0	0	0	15569	159	6	4	745	4	TAS2R16	7	122635555	Missense_Mutation	SNP	A	TCGA-23-2641-01A-01D-1526-09	20802415	122635555	36503108	38	11429											
FAM131B	9715	genome.wustl.edu	37	7	143053905	143053905	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr7:143053905G>C	ENST00000409408.1	-	6	2445	c.737C>G	c.(736-738)gCt>gGt	p.A246G	FAM131B_ENST00000409346.1_Missense_Mutation_p.A246G|FAM131B_ENST00000409222.3_Missense_Mutation_p.A246G|FAM131B_ENST00000443739.2_Missense_Mutation_p.A274G|FAM131B_ENST00000409578.1_Missense_Mutation_p.A262G			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	246										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					AGGCTCCAGAGCAGAGTATCC	0.607																																																0			7											82	86	84					7																	143053905		2203	4300	6503	142764027	SO:0001583	missense	9715			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.737C>G	7.37:g.143053905G>C	ENSP00000387017:p.Ala246Gly		142764027	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426491	0.25726	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.46	4.52	0.55395	.	0.582437	0.18281	N	0.146033	T	0.13500	0.0327	N	0.04508	-0.205	0.31154	N	0.705093	B;B	0.09022	0.0;0.002	B;B	0.08055	0.002;0.003	T	0.04811	-1.0925	10	0.25751	T	0.34	-30.2412	15.6975	0.77512	0.0:0.1369:0.8631:0.0	.	262;246	Q86XD5-2;Q86XD5	.;F131B_HUMAN	G	274;262;246;250;246;246	ENSP00000410603:A274G;ENSP00000386568:A262G;ENSP00000386984:A246G;ENSP00000387017:A246G;ENSP00000387147:A246G	ENSP00000387147:A246G	A	-	2	0	FAM131B	142764027	0.518000	0.26234	1.000000	0.80357	0.736000	0.42039	1.667000	0.37471	2.561000	0.86390	0.655000	0.94253	GCT		0.607	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		C	143053905	G	C	143053905	3	2	198	1	0	0	0	0	1	0	0	0	5440	971	34	3	265	3	FAM131B	7	143053905	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	20418350	143053905	16084758	39	11430											
ZNF703	80139	genome.wustl.edu	37	8	37553648	37553648	+	Silent	SNP	A	A	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr8:37553648A>C	ENST00000331569.4	+	1	380	c.151A>C	c.(151-153)Agg>Cgg	p.R51R		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	51					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCTCCCGATCAGGGTCCTGAA	0.716																																																0			8											17	16	17					8																	37553648		2195	4289	6484	37672806	SO:0001819	synonymous_variant	80139			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.151A>C	8.37:g.37553648A>C			37672806	Q5XG76	Silent	SNP	ENST00000331569.4	37	CCDS6094.1																																																																																				0.716	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		C	37553648	A	C	37553648	2	2	198	1	0	0	0	0	0	0	0	1	18106	179	7	5		5	ZNF703	8	37553648	Silent	SNP	A	TCGA-23-2641-01A-01D-1526-09		37553648	108810374	40	11431											
POP1	10940	genome.wustl.edu	37	8	99162737	99162737	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr8:99162737G>C	ENST00000401707.2	+	14	2008	c.1927G>C	c.(1927-1929)Ggg>Cgg	p.G643R	POP1_ENST00000349693.3_Missense_Mutation_p.G643R	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	643					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAGAGTCGGAGGGTTGAAAGA	0.438																																																0			8											131	127	129					8																	99162737		2203	4300	6503	99231913	SO:0001583	missense	10940			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1927G>C	8.37:g.99162737G>C	ENSP00000385787:p.Gly643Arg		99231913	A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377210	0.82682	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.71934	-0.61;-0.61	5.78	5.78	0.91487	POPLD (1);	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89920	0.4058	10	0.87932	D	0	-15.7115	18.1929	0.89813	0.0:0.0:1.0:0.0	.	643	Q99575	POP1_HUMAN	R	643	ENSP00000385787:G643R;ENSP00000339529:G643R	ENSP00000339529:G643R	G	+	1	0	POP1	99231913	1.000000	0.71417	0.989000	0.46669	0.664000	0.39144	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	GGG		0.438	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		C	99162737	G	C	99162737	3	2	198	1	0	0	0	0	1	0	0	0	12251	1000	35	3	1977	3	POP1	8	99162737	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	61609089	99162737	47201285	41	11432											
TG	7038	genome.wustl.edu	37	8	133911145	133911145	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr8:133911145C>T	ENST00000220616.4	+	14	3360	c.3320C>T	c.(3319-3321)gCc>gTc	p.A1107V	TG_ENST00000377869.1_Missense_Mutation_p.A1107V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1107	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTCGTCCCAGCCTGCCTAGAA	0.502																																																0			8											55	46	49					8																	133911145		2203	4300	6503	133980327	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3320C>T	8.37:g.133911145C>T	ENSP00000220616:p.Ala1107Val		133980327	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.212|9.212	1.031171|1.031171	0.19590|0.19590	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000220616|ENST00000518505	T;T|.	0.64618|.	-0.11;-0.11|.	5.74|5.74	3.91|3.91	0.45181|0.45181	Thyroglobulin type-1 (6);|.	0.867777|.	0.10203|.	N|.	0.703150|.	T|T	0.24624|0.24624	0.0597|0.0597	L|L	0.28274|0.28274	0.84|0.84	0.21355|0.21355	N|N	0.999711|0.999711	B|.	0.13145|.	0.007|.	B|.	0.12156|.	0.007|.	T|T	0.19910|0.19910	-1.0291|-1.0291	10|5	0.18710|.	T|.	0.47|.	.|.	4.2845|4.2845	0.10848|0.10848	0.1623:0.5949:0.157:0.0858|0.1623:0.5949:0.157:0.0858	.|.	1107|.	P01266|.	THYG_HUMAN|.	V|S	1107|74	ENSP00000367100:A1107V;ENSP00000220616:A1107V|.	ENSP00000220616:A1107V|.	A|P	+|+	2|1	0|0	TG|TG	133980327|133980327	0.227000|0.227000	0.23707|0.23707	0.641000|0.641000	0.29422|0.29422	0.440000|0.440000	0.31957|0.31957	0.535000|0.535000	0.23114|0.23114	0.731000|0.731000	0.32448|0.32448	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133911145	C	T	133911145	3	4	198	1	0	0	0	0	1	0	0	0	15813	739	26	2	3374	2	TG	8	133911145	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	34748408	133911145	12452877	42	11433											
TG	7038	genome.wustl.edu	37	8	133925442	133925442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr8:133925442G>A	ENST00000220616.4	+	20	4350	c.4310G>A	c.(4309-4311)tGg>tAg	p.W1437*	TG_ENST00000377869.1_Nonsense_Mutation_p.W1437*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1437			W -> R (in dbSNP:rs2069558). {ECO:0000269|PubMed:10199792, ECO:0000269|PubMed:3595599}.		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCAGGACATGGTTTGGGTGC	0.562																																																0			8	GRCh37	CM063191	TG	M							107	88	94					8																	133925442		2203	4300	6503	133994624	SO:0001587	stop_gained	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4310G>A	8.37:g.133925442G>A	ENSP00000220616:p.Trp1437*		133994624	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	42	9.543138	0.99201	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	.	.	.	5.81	0.0743	0.14394	.	1.612030	0.03081	N	0.158503	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	7.5624	0.27860	0.6316:0.0:0.3684:0.0	.	.	.	.	X	1437;243;1437	.	ENSP00000220616:W1437X	W	+	2	0	TG	133994624	0.765000	0.28485	0.001000	0.08648	0.676000	0.39594	1.216000	0.32443	0.073000	0.16731	0.650000	0.86243	TGG		0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133925442	G	A	133925442	4	1	198	1	0	0	0	0	0	1	0	0	15813	1357	47	2	4388	2	TG	8	133925442	Nonsense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	14297	133925442	12438580	43	11434											
DMRT3	58524	genome.wustl.edu	37	9	990520	990520	+	Missense_Mutation	SNP	C	C	T	rs117758829	byFrequency	TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr9:990520C>T	ENST00000190165.2	+	2	972	c.934C>T	c.(934-936)Cac>Tac	p.H312Y		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	312					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CTCCAATGGGCACATCTTTGA	0.562													C|||	3	0.000599042	0	0.0014	5008	,	,		18921	0		0.002	False		,,,				2504	0															0			9						C	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	131	113	119		934	4	1	9	dbSNP_133	119	11,8589	8.4+/-32.0	0,11,4289	yes	missense	DMRT3	NM_021240.2	83	0,12,6491	TT,TC,CC		0.1279,0.0227,0.0923	benign	312/473	990520	12,12994	2203	4300	6503	980520	SO:0001583	missense	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.934C>T	9.37:g.990520C>T	ENSP00000190165:p.His312Tyr		980520	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.50	1.658399	0.29425	2.27E-4	0.001279	ENSG00000064218	ENST00000190165	T	0.25085	1.82	4.94	3.98	0.46160	.	0.055932	0.64402	D	0.000001	T	0.18299	0.0439	L	0.29908	0.895	0.52501	D	0.999958	D	0.55385	0.971	P	0.45099	0.469	T	0.03259	-1.1055	10	0.02654	T	1	-46.0287	14.0292	0.64604	0.1516:0.8484:0.0:0.0	.	312	Q9NQL9	DMRT3_HUMAN	Y	312	ENSP00000190165:H312Y	ENSP00000190165:H312Y	H	+	1	0	DMRT3	980520	1.000000	0.71417	0.978000	0.43139	0.228000	0.25075	5.318000	0.65829	2.304000	0.77564	0.555000	0.69702	CAC		0.562	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		T	990520	C	T	990520	3	4	198	1	0	0	0	0	1	0	0	0	4587	710	25	2	940	2	DMRT3	9	990520	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09		990520	140222911	44	11435											
ARHGAP12	94134	genome.wustl.edu	37	10	32197759	32197759	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr10:32197759T>G	ENST00000344936.2	-	3	259	c.25A>C	c.(25-27)Aag>Cag	p.K9Q	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K9Q|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.K9Q|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K9Q|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K9Q	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	9					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGAATAATCTTCCCACTTCTG	0.353																																																0			10											150	145	147					10																	32197759		2202	4300	6502	32237765	SO:0001583	missense	94134			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.25A>C	10.37:g.32197759T>G	ENSP00000345808:p.Lys9Gln		32237765	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915483	0.33815	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.08720	3.11;3.06;3.11;3.11;3.11	5.73	5.73	0.89815	.	0.560095	0.19277	N	0.118257	T	0.10165	0.0249	L	0.44542	1.39	0.28603	N	0.909034	B;B;B;B;B;P	0.41188	0.181;0.381;0.321;0.381;0.381;0.741	B;B;B;B;B;B	0.37091	0.1;0.101;0.206;0.101;0.101;0.241	T	0.05115	-1.0905	10	0.59425	D	0.04	.	16.013	0.80417	0.0:0.0:0.0:1.0	.	9;9;9;9;9;9	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	Q	9	ENSP00000310984:K9Q;ENSP00000364399:K9Q;ENSP00000345808:K9Q;ENSP00000379448:K9Q;ENSP00000364394:K9Q	ENSP00000310984:K9Q	K	-	1	0	ARHGAP12	32237765	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.638000	0.54332	2.183000	0.69458	0.528000	0.53228	AAG		0.353	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			G	32197759	T	G	32197759	3	3	198	1	0	0	0	0	1	0	0	0	865	1792	62	5	2587	5	ARHGAP12	10	32197759	Missense_Mutation	SNP	T	TCGA-23-2641-01A-01D-1526-09		32197759	103336988	45	11436											
LDB3	11155	genome.wustl.edu	37	10	88441363	88441363	+	Silent	SNP	G	G	C	rs368407147		TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr10:88441363G>C	ENST00000361373.4	+	4	513	c.492G>C	c.(490-492)ccG>ccC	p.P164P	LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_Silent_p.P164P|LDB3_ENST00000429277.2_Silent_p.P164P|LDB3_ENST00000310944.6_Silent_p.P164P|LDB3_ENST00000372056.4_Silent_p.P164P|LDB3_ENST00000263066.6_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGGCCCTCCGCGGGCCAGCC	0.706																																																0			10											18	21	20					10																	88441363		2201	4296	6497	88431343	SO:0001819	synonymous_variant	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.492G>C	10.37:g.88441363G>C			88431343		Silent	SNP	ENST00000361373.4	37	CCDS7377.1																																																																																				0.706	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			C	88441363	G	C	88441363	2	2	198	1	0	0	0	0	0	0	0	1	8697	1074	38	3		3	LDB3	10	88441363	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	56243604	88441363	47093384	46	11437											
XPNPEP1	7511	genome.wustl.edu	37	10	111624957	111624957	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr10:111624957G>A	ENST00000502935.1	-	21	2105	c.1986C>T	c.(1984-1986)atC>atT	p.I662I	XPNPEP1_ENST00000369683.1_Silent_p.I548I|XPNPEP1_ENST00000369680.4_Silent_p.I619I|XPNPEP1_ENST00000322238.8_Silent_p.I638I					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GCTGTTTGGAGATGGGTTGCG	0.488																																																0			10											149	150	150					10																	111624957		2203	4300	6503	111614947	SO:0001819	synonymous_variant	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1986C>T	10.37:g.111624957G>A			111614947		Silent	SNP	ENST00000502935.1	37	CCDS7560.2																																																																																				0.488	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			A	111624957	G	A	111624957	2	1	198	1	0	0	0	0	0	0	0	1	17442	932	33	2		2	XPNPEP1	10	111624957	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	23183594	111624957	23909790	47	11438											
DPYSL4	10570	genome.wustl.edu	37	10	134008405	134008405	+	Missense_Mutation	SNP	C	C	T	rs537272168		TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr10:134008405C>T	ENST00000338492.4	+	4	534	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.R47W|DPYSL4_ENST00000368629.1_Missense_Mutation_p.R47W	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	124					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGAGCAGTGGCGGGAGCGGGC	0.662													C|||	1	0.000199681	0	0	5008	,	,		14403	0		0	False		,,,				2504	0.001															0			10											64	60	61					10																	134008405		2203	4297	6500	133858395	SO:0001583	missense	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.370C>T	10.37:g.134008405C>T	ENSP00000339850:p.Arg124Trp		133858395	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724747	0.68959	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.90900	-2.75;-2.75;-2.75	4.48	4.48	0.54585	Amidohydrolase 1 (1);	0.114862	0.56097	D	0.000027	D	0.93956	0.8065	M	0.73372	2.23	0.52099	D	0.999945	D	0.89917	1.0	D	0.76071	0.987	D	0.94100	0.7361	10	0.87932	D	0	-7.9014	11.2412	0.48970	0.308:0.692:0.0:0.0	.	124	O14531	DPYL4_HUMAN	W	124;47;47	ENSP00000339850:R124W;ENSP00000357618:R47W;ENSP00000357616:R47W	ENSP00000339850:R124W	R	+	1	2	DPYSL4	133858395	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	0.929000	0.28844	2.344000	0.79699	0.555000	0.69702	CGG		0.662	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			T	134008405	C	T	134008405	3	4	198	1	0	0	0	0	1	0	0	0	4749	759	27	1	384	1	DPYSL4	10	134008405	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	22383448	134008405	1526342	48	11439											
OR56A4	120793	genome.wustl.edu	37	11	6023857	6023857	+	Silent	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr11:6023857G>C	ENST00000330728.4	-	1	567	c.522C>G	c.(520-522)gcC>gcG	p.A174A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACGGTCATAGGCCATGACCA	0.507																																																0			11											77	67	71					11																	6023857		2201	4296	6497	5980433	SO:0001819	synonymous_variant	120793			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.522C>G	11.37:g.6023857G>C			5980433	B9EH17	Silent	SNP	ENST00000330728.4	37	CCDS31404.1																																																																																				0.507	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		C	6023857	G	C	6023857	2	2	198	1	0	0	0	0	0	0	0	1	11135	987	35	3		3	OR56A4	11	6023857	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09		6023857	128982659	49	11440											
NELL1	4745	genome.wustl.edu	37	11	20940857	20940857	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr11:20940857C>A	ENST00000357134.5	+	7	888	c.736C>A	c.(736-738)Ctt>Att	p.L246I	NELL1_ENST00000325319.5_Missense_Mutation_p.L189I|NELL1_ENST00000298925.5_Missense_Mutation_p.L274I|NELL1_ENST00000532434.1_Missense_Mutation_p.L246I	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	246					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTTACAAGAGCTTTTGGCCAA	0.323																																																0			11											122	120	121					11																	20940857		2203	4299	6502	20897433	SO:0001583	missense	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.736C>A	11.37:g.20940857C>A	ENSP00000349654:p.Leu246Ile		20897433	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201372	0.38905	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.79247	-1.25;-1.22;-1.15;-1.11	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	N	0.20766	0.605	0.49798	D	0.999824	P;P;B;P	0.46512	0.879;0.807;0.264;0.807	B;B;B;B	0.41571	0.36;0.197;0.279;0.197	T	0.64123	-0.6481	10	0.07813	T	0.8	-12.8347	20.0128	0.97467	0.0:1.0:0.0:0.0	.	189;274;246;246	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	I	274;246;189;246	ENSP00000298925:L274I;ENSP00000349654:L246I;ENSP00000317837:L189I;ENSP00000437170:L246I	ENSP00000298925:L274I	L	+	1	0	NELL1	20897433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.493000	0.53266	2.827000	0.97445	0.650000	0.86243	CTT		0.323	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		A	20940857	C	A	20940857	3	1	198	1	0	0	0	0	1	0	0	0	10333	797	28	3	762	3	NELL1	11	20940857	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	14917000	20940857	114065659	50	11441											
ANO5	203859	genome.wustl.edu	37	11	22261148	22261148	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr11:22261148C>T	ENST00000324559.8	+	9	1113	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	266					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTCCCAATCCTACCAATGA	0.403																																																0			11											143	146	145					11																	22261148		2203	4300	6503	22217724	SO:0001583	missense	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.796C>T	11.37:g.22261148C>T	ENSP00000315371:p.Pro266Ser		22217724		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	5.348	0.249448	0.10130	.	.	ENSG00000171714	ENST00000324559	T	0.69175	-0.38	6.02	3.95	0.45737	.	0.277370	0.47093	D	0.000242	T	0.49813	0.1579	L	0.50333	1.59	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.26326	-1.0106	10	0.09338	T	0.73	.	2.4078	0.04417	0.2369:0.4737:0.0:0.2894	.	266	Q75V66	ANO5_HUMAN	S	266	ENSP00000315371:P266S	ENSP00000315371:P266S	P	+	1	0	ANO5	22217724	0.754000	0.28360	0.383000	0.26132	0.773000	0.43773	2.054000	0.41335	1.554000	0.49487	0.650000	0.86243	CCT		0.403	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		T	22261148	C	T	22261148	3	4	198	1	0	0	0	0	1	0	0	0	700	855	30	2	830	2	ANO5	11	22261148	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	1320291	22261148	112745368	51	11442											
SLC1A2	6506	genome.wustl.edu	37	11	35327661	35327661	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr11:35327661G>C	ENST00000278379.3	-	5	972	c.690C>G	c.(688-690)atC>atG	p.I230M	SLC1A2_ENST00000395753.1_Missense_Mutation_p.I221M|SLC1A2_ENST00000606205.1_Missense_Mutation_p.I230M|SLC1A2_ENST00000395750.1_Missense_Mutation_p.I221M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	230					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GGCCCTTCTTGATAACCATCT	0.572											OREG0020883	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)											0			11											153	119	130					11																	35327661		2202	4298	6500	35284237	SO:0001583	missense	6506			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.690C>G	11.37:g.35327661G>C	ENSP00000278379:p.Ile230Met	854	35284237	B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	9.384	1.073724	0.20147	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	T;T;T	0.56444	0.46;0.47;0.47	5.45	2.54	0.30619	.	0.946576	0.08888	N	0.878983	T	0.36908	0.0984	N	0.17474	0.49	0.49915	D	0.999833	B;B	0.19073	0.033;0.018	B;B	0.23150	0.044;0.044	T	0.08722	-1.0708	10	0.33141	T	0.24	-11.6891	9.2177	0.37358	0.3375:0.0:0.6625:0.0	.	230;230	B4DQE9;P43004	.;EAA2_HUMAN	M	230;221;221	ENSP00000278379:I230M;ENSP00000379099:I221M;ENSP00000379102:I221M	ENSP00000278379:I230M	I	-	3	3	SLC1A2	35284237	1.000000	0.71417	0.982000	0.44146	0.514000	0.34195	2.689000	0.46993	0.790000	0.33803	-0.254000	0.11334	ATC		0.572	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		C	35327661	G	C	35327661	3	2	198	1	0	0	0	0	1	0	0	0	14435	1280	45	3	1062	3	SLC1A2	11	35327661	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	13066513	35327661	99678855	52	11443											
OR4A5	81318	genome.wustl.edu	37	11	51411697	51411697	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr11:51411697G>A	ENST00000319760.6	-	1	751	c.699C>T	c.(697-699)gcC>gcT	p.A233A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A233A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGTAGACAAGGCTTTACCCC	0.413																																																1	Substitution - coding silent(1)	large_intestine(1)	11											65	64	65					11																	51411697		2201	4295	6496	51268273	SO:0001819	synonymous_variant	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.699C>T	11.37:g.51411697G>A			51268273	Q6IF84	Silent	SNP	ENST00000319760.6	37	CCDS31497.1																																																																																				0.413	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		A	51411697	G	A	51411697	2	1	198	1	0	0	0	0	0	0	0	1	11043	987	35	2		2	OR4A5	11	51411697	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	16084036	51411697	83594819	53	11444											
EHD1	10938	genome.wustl.edu	37	11	64622936	64622936	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr11:64622936G>C	ENST00000320631.3	-	4	1192	c.938C>G	c.(937-939)tCc>tGc	p.S313C	EHD1_ENST00000359393.2_Missense_Mutation_p.S313C|EHD1_ENST00000488711.1_5'Flank	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	313					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTTCTTGAGGGAGCTGATGAT	0.547											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			11											151	139	143					11																	64622936		2201	4297	6498	64379512	SO:0001583	missense	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.938C>G	11.37:g.64622936G>C	ENSP00000320516:p.Ser313Cys	1078	64379512	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815782	0.50527	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803	T;T;T;T	0.44881	2.25;2.25;0.91;1.49	4.63	4.63	0.57726	.	0.111143	0.64402	D	0.000006	T	0.40670	0.1126	L	0.55834	1.745	0.44985	D	0.998004	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34925	-0.9809	10	0.56958	D	0.05	.	15.0511	0.71872	0.0:0.0:1.0:0.0	.	313;313	B2R5U3;Q9H4M9	.;EHD1_HUMAN	C	313;313;289;327;177;327	ENSP00000320516:S313C;ENSP00000352354:S313C;ENSP00000391429:S177C;ENSP00000404944:S327C	ENSP00000320516:S313C	S	-	2	0	EHD1	64379512	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.567000	0.82357	2.420000	0.82092	0.561000	0.74099	TCC		0.547	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		C	64622936	G	C	64622936	3	2	198	1	0	0	0	0	1	0	0	0	4977	1174	41	3	674	3	EHD1	11	64622936	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	13211239	64622936	70383580	54	11445											
FRMD8	83786	genome.wustl.edu	37	11	65172367	65172367	+	Silent	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr11:65172367C>T	ENST00000317568.5	+	10	1267	c.1104C>T	c.(1102-1104)tgC>tgT	p.C368C	FRMD8_ENST00000355991.5_Silent_p.C312C|FRMD8_ENST00000416776.2_Silent_p.C334C	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	368	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TTGAGTACTGCATCGAACTGA	0.662																																																0			11											31	33	32					11																	65172367		2201	4297	6498	64928943	SO:0001819	synonymous_variant	83786			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.1104C>T	11.37:g.65172367C>T			64928943	B4E2P1|Q86V56|Q8NCB5	Silent	SNP	ENST00000317568.5	37	CCDS8102.1																																																																																				0.662	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		T	65172367	C	T	65172367	2	4	198	1	0	0	0	0	0	0	0	1	6056	718	25	2		2	FRMD8	11	65172367	Silent	SNP	C	TCGA-23-2641-01A-01D-1526-09	549431	65172367	69834149	55	11446											
SAPS3	55291	genome.wustl.edu	37	11	68343468	68343468	+	Missense_Mutation	SNP	C	C	G	rs375667385		TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr11:68343468C>G	ENST00000393800.2	+	14	1756	c.1502C>G	c.(1501-1503)aCa>aGa	p.T501R	PPP6R3_ENST00000534534.1_Missense_Mutation_p.T269R|PPP6R3_ENST00000529710.1_Missense_Mutation_p.T450R|PPP6R3_ENST00000524845.1_Missense_Mutation_p.T501R|PPP6R3_ENST00000524904.1_Missense_Mutation_p.T501R|PPP6R3_ENST00000265636.5_Missense_Mutation_p.T450R|PPP6R3_ENST00000393801.3_Missense_Mutation_p.T501R|PPP6R3_ENST00000527403.2_Missense_Mutation_p.T501R|PPP6R3_ENST00000265637.4_Missense_Mutation_p.T501R|PPP6R3_ENST00000393799.2_Missense_Mutation_p.T501R	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	501					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACGTTCTGCACAAGCTCCTTA	0.428																																																0			11											156	147	150					11																	68343468		2200	4294	6494	68100044	SO:0001583	missense	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1502C>G	11.37:g.68343468C>G	ENSP00000377389:p.Thr501Arg		68100044	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174957	0.57692	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.22743	1.97;1.97;1.96;1.97;1.97;1.97;1.97;1.94;1.94;1.97;1.96	5.89	5.89	0.94794	.	0.236588	0.43747	D	0.000535	T	0.34687	0.0906	M	0.68593	2.085	0.50813	D	0.999893	B;D;B;B;B;B;B;B	0.53462	0.094;0.96;0.004;0.004;0.01;0.013;0.035;0.022	B;P;B;B;B;B;B;B	0.49387	0.211;0.609;0.038;0.038;0.056;0.051;0.054;0.03	T	0.01639	-1.1306	10	0.25751	T	0.34	.	19.2356	0.93858	0.0:1.0:0.0:0.0	.	213;269;450;501;501;501;501;450	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	R	501;501;269;501;501;501;501;450;450;501;237	ENSP00000377388:T501R;ENSP00000377389:T501R;ENSP00000434429:T269R;ENSP00000431415:T501R;ENSP00000265637:T501R;ENSP00000433058:T501R;ENSP00000377390:T501R;ENSP00000265636:T450R;ENSP00000437329:T450R;ENSP00000433565:T501R;ENSP00000436209:T237R	ENSP00000265636:T450R	T	+	2	0	PPP6R3	68100044	0.642000	0.27260	0.969000	0.41365	0.838000	0.47535	3.920000	0.56446	2.763000	0.94921	0.655000	0.94253	ACA		0.428	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		G	68343468	C	G	68343468	3	3	198	1	0	0	0	0	1	0	0	0	13841	478	17	3	1548	3	SAPS3	11	68343468	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	3171101	68343468	66663048	56	11447											
ABCC9	10060	genome.wustl.edu	37	12	22012569	22012569	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr12:22012569C>A	ENST00000261201.4	-	20	2455	c.2456G>T	c.(2455-2457)aGa>aTa	p.R819I	ABCC9_ENST00000261200.4_Missense_Mutation_p.R819I|ABCC9_ENST00000345162.2_Missense_Mutation_p.R783I|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	819	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CACACAGATTCTCTGCCTCTG	0.403																																																0			12											188	187	187					12																	22012569		2203	4300	6503	21903836	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2456G>T	12.37:g.22012569C>A	ENSP00000261201:p.Arg819Ile		21903836	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914868	0.92178	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57	4.71	4.71	0.59529	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.97585	1.0113	10	0.87932	D	0	-17.83	17.8397	0.88712	0.0:1.0:0.0:0.0	.	819;819	O60706;O60706-2	ABCC9_HUMAN;.	I	819;446;819;783	ENSP00000261200:R819I;ENSP00000440521:R446I;ENSP00000261201:R819I;ENSP00000261202:R783I	ENSP00000261200:R819I	R	-	2	0	ABCC9	21903836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.638000	0.83328	2.449000	0.82847	0.467000	0.42956	AGA		0.403	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	22012569	C	A	22012569	3	1	198	1	0	0	0	0	1	0	0	0	59	913	32	3	2411	3	ABCC9	12	22012569	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09		22012569	111839326	57	11448											
ESPL1	9700	genome.wustl.edu	37	12	53671331	53671331	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr12:53671331T>G	ENST00000257934.4	+	10	2254	c.2163T>G	c.(2161-2163)gaT>gaG	p.D721E	ESPL1_ENST00000552462.1_Missense_Mutation_p.D721E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	721					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACTATGAAGATAAACTCCAGG	0.507																																					Colon(53;1069 1201 2587 5382)											0			12											115	104	108					12																	53671331		2203	4300	6503	51957598	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2163T>G	12.37:g.53671331T>G	ENSP00000257934:p.Asp721Glu		51957598		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464252	0.43736	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13778	2.56;2.56	5.18	0.00549	0.14063	.	0.199963	0.50627	N	0.000109	T	0.13500	0.0327	M	0.74881	2.28	0.41861	D	0.990223	B	0.22541	0.071	B	0.22386	0.039	T	0.06110	-1.0845	10	0.31617	T	0.26	.	5.1902	0.15205	0.0:0.2523:0.1422:0.6056	.	721	Q14674	ESPL1_HUMAN	E	721;396;721	ENSP00000257934:D721E;ENSP00000449831:D721E	ENSP00000257934:D721E	D	+	3	2	ESPL1	51957598	0.579000	0.26725	0.996000	0.52242	0.901000	0.52897	-0.501000	0.06398	-0.130000	0.11599	-0.408000	0.06270	GAT		0.507	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		G	53671331	T	G	53671331	3	3	198	1	0	0	0	0	1	0	0	0	5253	1403	49	5	2197	5	ESPL1	12	53671331	Missense_Mutation	SNP	T	TCGA-23-2641-01A-01D-1526-09	31658762	53671331	80180564	58	11449											
OR6C2	341416	genome.wustl.edu	37	12	55846843	55846843	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr12:55846843G>A	ENST00000322678.1	+	1	846	c.846G>A	c.(844-846)ttG>ttA	p.L282L	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	282					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TCGCACCCTTGTTGAACCCCT	0.413																																																0			12											114	114	114					12																	55846843		2203	4300	6503	54133110	SO:0001819	synonymous_variant	341416			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.846G>A	12.37:g.55846843G>A			54133110		Silent	SNP	ENST00000322678.1	37	CCDS31824.1																																																																																				0.413	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		A	55846843	G	A	55846843	2	1	198	1	0	0	0	0	0	0	0	1	11191	1368	48	2		2	OR6C2	12	55846843	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	2175512	55846843	78005052	59	11450											
LRP1	4035	genome.wustl.edu	37	12	57603947	57603947	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr12:57603947C>T	ENST00000243077.3	+	81	13041	c.12575C>T	c.(12574-12576)cCa>cTa	p.P4192L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4192					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D4193fs*9(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGCCCCCCCCAGATGGTATG	0.632																																																1	Insertion - Frameshift(1)	central_nervous_system(1)	12											66	61	63					12																	57603947		2203	4300	6503	55890214	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12575C>T	12.37:g.57603947C>T	ENSP00000243077:p.Pro4192Leu		55890214	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101286	0.76983	.	.	ENSG00000123384	ENST00000243077	T	0.62941	-0.01	4.96	4.96	0.65561	Growth factor, receptor (1);	0.000000	0.64402	D	0.000003	T	0.54062	0.1835	L	0.45422	1.42	0.80722	D	1	P	0.42785	0.79	B	0.37650	0.255	T	0.53816	-0.8385	10	0.25751	T	0.34	.	17.3689	0.87371	0.0:1.0:0.0:0.0	.	4192	Q07954	LRP1_HUMAN	L	4192	ENSP00000243077:P4192L	ENSP00000243077:P4192L	P	+	2	0	LRP1	55890214	0.003000	0.15002	0.952000	0.39060	0.127000	0.20565	0.878000	0.28126	2.497000	0.84241	0.455000	0.32223	CCA		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57603947	C	T	57603947	3	4	198	1	0	0	0	0	1	0	0	0	8951	594	21	2	12897	2	LRP1	12	57603947	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	1757104	57603947	76247948	60	11451											
ARHGAP9	64333	genome.wustl.edu	37	12	57870186	57870186	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr12:57870186G>A	ENST00000356411.2	-	8	1215	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393791.3_Silent_p.F359F|ARHGAP9_ENST00000550288.1_Silent_p.F438F|ARHGAP9_ENST00000393797.2_Silent_p.F430F|ARHGAP9_ENST00000430041.2_Silent_p.F175F|ARHGAP9_ENST00000424809.2_Silent_p.F359F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	359	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GCTCTCGGTAGAACACCAGGC	0.632																																																0			12											40	38	39					12																	57870186		2203	4300	6503	56156453	SO:0001819	synonymous_variant	64333			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1077C>T	12.37:g.57870186G>A			56156453	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37																																																																																					0.632	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		A	57870186	G	A	57870186	2	1	198	1	0	0	0	0	0	0	0	1	889	933	33	2		2	ARHGAP9	12	57870186	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	266239	57870186	75981709	61	11452											
KCNRG	283518	genome.wustl.edu	37	13	50590107	50590107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr13:50590107C>T	ENST00000312942.1	+	1	718	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	TRIM13_ENST00000378182.3_3'UTR|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_Nonsense_Mutation_p.Q160*	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	160					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TTTCCCTCCTCAGATGACCTT	0.468																																																0			13											120	103	109					13																	50590107		2203	4300	6503	49488108	SO:0001587	stop_gained	283518				CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.478C>T	13.37:g.50590107C>T	ENSP00000324191:p.Gln160*		49488108	A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Nonsense_Mutation	SNP	ENST00000312942.1	37	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192785	0.78902	.	.	ENSG00000198553	ENST00000360473;ENST00000312942	.	.	.	5.84	4.05	0.47172	.	0.315339	0.31507	N	0.007526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	12.8563	0.57886	0.1304:0.7444:0.1252:0.0	.	.	.	.	X	160	.	ENSP00000324191:Q160X	Q	+	1	0	KCNRG	49488108	1.000000	0.71417	0.310000	0.25168	0.155000	0.21991	2.894000	0.48640	0.760000	0.33108	0.655000	0.94253	CAG		0.468	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			T	50590107	C	T	50590107	4	4	198	1	0	0	0	0	0	1	0	0	8087	827	29	2	480	2	KCNRG	13	50590107	Nonsense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09		50590107	64579771	62	11453											
PRMT5	10419	genome.wustl.edu	37	14	23395460	23395460	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr14:23395460C>T	ENST00000324366.8	-	7	882	c.659G>A	c.(658-660)cGc>cAc	p.R220H	PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000397441.2_Missense_Mutation_p.R203H|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.R176H|PRMT5_ENST00000216350.8_Missense_Mutation_p.R159H|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.R114H|PRMT5-AS1_ENST00000590290.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	220	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CCCAAGCCAGCGATCAATGAC	0.478																																																0			14											90	94	93					14																	23395460		2203	4300	6503	22465300	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.659G>A	14.37:g.23395460C>T	ENSP00000319169:p.Arg220His		22465300	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003889	0.93287	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616	.	.	.	5.47	5.47	0.80525	.	0.047762	0.85682	D	0.000000	D	0.86797	0.6019	M	0.94063	3.49	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.986;0.989;0.985;0.982	D	0.89787	0.3965	9	0.87932	D	0	-8.4532	18.472	0.90778	0.0:1.0:0.0:0.0	.	176;159;220;203	G3V5W5;B4DX49;O14744;A8MZ91	.;.;ANM5_HUMAN;.	H	220;203;159;114;176;115;175;182	.	ENSP00000216350:R159H	R	-	2	0	PRMT5	22465300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.364000	0.66110	2.724000	0.93272	0.561000	0.74099	CGC		0.478	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			T	23395460	C	T	23395460	3	4	198	1	0	0	0	0	1	0	0	0	12542	768	27	1	1298	1	PRMT5	14	23395460	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09		23395460	83954080	63	11454											
FANCM	57697	genome.wustl.edu	37	14	45645735	45645735	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr14:45645735T>C	ENST00000267430.5	+	14	3863	c.3778T>C	c.(3778-3780)Tat>Cat	p.Y1260H	FANCM_ENST00000542564.2_Missense_Mutation_p.Y1234H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1260					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGATGATCTATATGGAAGGTA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0			14											73	75	74					14																	45645735		2203	4297	6500	44715485	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3778T>C	14.37:g.45645735T>C	ENSP00000267430:p.Tyr1260His		44715485	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.675|1.675	-0.508050|-0.508050	0.04231|0.04231	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.17054	.|2.89;2.89;2.3	5.91|5.91	-2.59|-2.59	0.06209|0.06209	.|.	.|0.950618	.|0.08760	.|N	.|0.897832	T|T	0.06872|0.06872	0.0175|0.0175	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.21147	.|0.052;0.052	.|B;B	.|0.22601	.|0.04;0.04	T|T	0.34775|0.34775	-0.9815|-0.9815	5|10	.|0.42905	.|T	.|0.14	.|.	1.5886|1.5886	0.02649|0.02649	0.1194:0.2835:0.2461:0.3511|0.1194:0.2835:0.2461:0.3511	.|.	.|1234;1260	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	T|H	192|1260;1234;776	.|ENSP00000267430:Y1260H;ENSP00000442493:Y1234H;ENSP00000452033:Y776H	.|ENSP00000267430:Y1260H	I|Y	+|+	2|1	0|0	FANCM|FANCM	44715485|44715485	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.031000|0.031000	0.12232|0.12232	-0.265000|-0.265000	0.08644|0.08644	-0.722000|-0.722000	0.04922|0.04922	-0.313000|-0.313000	0.08912|0.08912	ATA|TAT		0.313	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		C	45645735	T	C	45645735	3	2	198	1	0	0	0	0	1	0	0	0	5671	1406	49	4	3832	4	FANCM	14	45645735	Missense_Mutation	SNP	T	TCGA-23-2641-01A-01D-1526-09	22250275	45645735	61703805	64	11455											
DYNC1H1	1778	genome.wustl.edu	37	14	102449774	102449774	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr14:102449774T>G	ENST00000360184.4	+	7	1453	c.1289T>G	c.(1288-1290)cTt>cGt	p.L430R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	430	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TATGAGAAACTTCAGGTATTG	0.403																																																0			14											87	89	89					14																	102449774		2203	4300	6503	101519527	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1289T>G	14.37:g.102449774T>G	ENSP00000348965:p.Leu430Arg		101519527	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.563129	0.65538	.	.	ENSG00000197102	ENST00000360184	T	0.56776	0.44	5.58	5.58	0.84498	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.84948	2.725	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.77112	-0.2708	10	0.44086	T	0.13	.	16.0131	0.80417	0.0:0.0:0.0:1.0	.	430	Q14204	DYHC1_HUMAN	R	430	ENSP00000348965:L430R	ENSP00000348965:L430R	L	+	2	0	DYNC1H1	101519527	1.000000	0.71417	0.770000	0.31555	0.947000	0.59692	7.655000	0.83696	2.245000	0.73994	0.482000	0.46254	CTT		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102449774	T	G	102449774	3	3	198	1	0	0	0	0	1	0	0	0	4841	1609	56	5	1315	5	DYNC1H1	14	102449774	Missense_Mutation	SNP	T	TCGA-23-2641-01A-01D-1526-09	56804039	102449774	4899766	65	11456											
MKRN3	7681	genome.wustl.edu	37	15	23811074	23811074	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr15:23811074C>A	ENST00000314520.3	+	1	621	c.145C>A	c.(145-147)Cca>Aca	p.P49T	MKRN3_ENST00000564592.1_Missense_Mutation_p.P49T|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Missense_Mutation_p.P49T	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	49					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTCAGCCCTGCCACATGCGGC	0.692																																																0			15											32	36	34					15																	23811074		2203	4298	6501	21362167	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.145C>A	15.37:g.23811074C>A	ENSP00000313881:p.Pro49Thr		21362167		Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	10.52	1.373096	0.24857	.	.	ENSG00000179455	ENST00000314520	T	0.27720	1.65	2.83	-2.46	0.06461	.	.	.	.	.	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.0	B;B	0.09377	0.004;0.001	T	0.30446	-0.9978	9	0.15499	T	0.54	.	0.8777	0.01227	0.3706:0.2848:0.2002:0.1444	.	49;49	Q6NSB6;Q13064	.;MKRN3_HUMAN	T	49	ENSP00000313881:P49T	ENSP00000313881:P49T	P	+	1	0	MKRN3	21362167	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.259000	0.02861	-0.511000	0.06514	0.563000	0.77884	CCA		0.692	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		A	23811074	C	A	23811074	3	1	198	1	0	0	0	0	1	0	0	0	9608	739	26	3	147	3	MKRN3	15	23811074	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09		23811074	78720318	66	11457											
MYH11	4629	genome.wustl.edu	37	16	15850216	15850216	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr16:15850216G>A	ENST00000300036.5	-	14	1840	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	MYH11_ENST00000576790.2_Silent_p.I577I|MYH11_ENST00000452625.2_Silent_p.I584I|MYH11_ENST00000396324.3_Silent_p.I584I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	577	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CATAATGGATGATGGAGAACT	0.597			T	CBFB	AML						OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0			16											115	91	99					16																	15850216		2197	4300	6497	15757717	SO:0001819	synonymous_variant	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1731C>T	16.37:g.15850216G>A		705	15757717	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15850216	G	A	15850216	2	1	198	1	0	0	0	0	0	0	0	1	10031	1280	45	2		2	MYH11	16	15850216	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09		15850216	74504537	67	11458											
ITGAX	3687	genome.wustl.edu	37	16	31388219	31388219	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr16:31388219T>A	ENST00000268296.4	+	21	2729	c.2608T>A	c.(2608-2610)Ttc>Atc	p.F870I	ITGAX_ENST00000562522.1_Missense_Mutation_p.F870I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	870					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCACCTCATCTTCCGTGGCGG	0.612																																																0			16											92	88	89					16																	31388219		2197	4300	6497	31295720	SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2608T>A	16.37:g.31388219T>A	ENSP00000268296:p.Phe870Ile		31295720	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403685	0.42613	.	.	ENSG00000140678	ENST00000268296	T	0.54071	0.59	4.33	2.05	0.26809	Integrin alpha-2 (1);	.	.	.	.	T	0.67249	0.2873	M	0.76170	2.325	0.27492	N	0.952244	D;D	0.76494	0.975;0.999	P;D	0.72338	0.854;0.977	T	0.56613	-0.7950	9	0.87932	D	0	.	6.824	0.23872	0.0:0.1956:0.0:0.8044	.	870;55	P20702;Q8TES5	ITAX_HUMAN;.	I	870	ENSP00000268296:F870I	ENSP00000268296:F870I	F	+	1	0	ITGAX	31295720	0.991000	0.36638	0.996000	0.52242	0.138000	0.21146	0.129000	0.15830	0.306000	0.22856	0.321000	0.21382	TTC		0.612	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31388219	T	A	31388219	3	1	198	1	0	0	0	0	1	0	0	0	7889	1609	56	5	2690	5	ITGAX	16	31388219	Missense_Mutation	SNP	T	TCGA-23-2641-01A-01D-1526-09	15538003	31388219	58966534	68	11459											
FOXC2	2303	genome.wustl.edu	37	16	86601261	86601261	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr16:86601261C>A	ENST00000320354.4	+	1	405	c.320C>A	c.(319-321)cCc>cAc	p.P107H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	107					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GACCGCTTCCCCTTCTACCGG	0.587									Late-onset Hereditary Lymphedema																																							0			16											113	119	117					16																	86601261		2198	4300	6498	85158762	SO:0001583	missense	2303	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.320C>A	16.37:g.86601261C>A	ENSP00000326371:p.Pro107His		85158762	C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856473	0.71834	.	.	ENSG00000176692	ENST00000320354	D	0.96992	-4.2	4.67	3.71	0.42584	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.109084	0.39759	U	0.001267	D	0.98820	0.9602	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98433	1.0583	10	0.87932	D	0	.	11.3319	0.49482	0.0:0.9094:0.0:0.0906	.	107	Q99958	FOXC2_HUMAN	H	107	ENSP00000326371:P107H	ENSP00000326371:P107H	P	+	2	0	FOXC2	85158762	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	0.957000	0.37930	0.650000	0.86243	CCC		0.587	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		A	86601261	C	A	86601261	3	1	198	1	0	0	0	0	1	0	0	0	5995	623	22	3	322	3	FOXC2	16	86601261	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	55213042	86601261	3753492	69	11460											
TP53	7157	genome.wustl.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	17											48	46	47					17																	7578370		2203	4300	6503	7519095	SO:0001630	splice_region_variant	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.559+1G>T	17.37:g.7578370C>A			7519095	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578370	C	A	7578370	5	1	198	1	0	0	0	0	0	0	1	0	16381	521	18	3	738	3	TP53	17	7578370	Splice_Site	SNP	C	TCGA-23-2641-01A-01D-1526-09		7578370	73616840	70	11461											
CNTROB	116840	genome.wustl.edu	37	17	7836551	7836551	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr17:7836551G>A	ENST00000563694.1	+	1	1079	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	CNTROB_ENST00000380262.3_Missense_Mutation_p.A52T|CNTROB_ENST00000565740.1_Missense_Mutation_p.A52T|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000380255.3_Missense_Mutation_p.A52T|TRAPPC1_ENST00000540486.1_5'Flank|TRAPPC1_ENST00000303731.4_5'Flank	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	52					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAGGCCACGGCCCGAGCCCA	0.577																																																0			17											61	65	63					17																	7836551		2203	4300	6503	7777276	SO:0001583	missense	116840			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.154G>A	17.37:g.7836551G>A	ENSP00000456335:p.Ala52Thr		7777276	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512696	0.96402	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.62364	0.55;0.03	5.25	5.25	0.73442	.	0.000000	0.45867	D	0.000339	T	0.68851	0.3046	L	0.27053	0.805	0.36596	D	0.874404	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.993	T	0.71137	-0.4680	10	0.30854	T	0.27	-12.4968	17.6178	0.88072	0.0:0.0:1.0:0.0	.	52;52	Q8N137;Q8N137-2	CNTRB_HUMAN;.	T	52	ENSP00000369614:A52T;ENSP00000369605:A52T	ENSP00000369605:A52T	A	+	1	0	CNTROB	7777276	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	5.504000	0.66968	2.436000	0.82500	0.563000	0.77884	GCC		0.577	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		A	7836551	G	A	7836551	3	1	198	1	0	0	0	0	1	0	0	0	3651	1203	42	2	156	2	CNTROB	17	7836551	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	258181	7836551	73358659	71	11462											
LHX1	3975	genome.wustl.edu	37	17	35300290	35300290	+	Silent	SNP	G	G	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr17:35300290G>T	ENST00000254457.5	+	5	2494	c.1083G>T	c.(1081-1083)ctG>ctT	p.L361L	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	361					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L361L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGCCCAGCCTGCCCGGGCCTC	0.716																																																1	Substitution - coding silent(1)	lung(1)	17											10	14	13					17																	35300290		2160	4237	6397	32374403	SO:0001819	synonymous_variant	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.1083G>T	17.37:g.35300290G>T			32374403	Q3MIW0	Silent	SNP	ENST00000254457.5	37	CCDS11316.1																																																																																				0.716	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		T	35300290	G	T	35300290	2	4	198	1	0	0	0	0	0	0	0	1	8770	1306	46	3		3	LHX1	17	35300290	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	27463739	35300290	45894920	72	11463											
PLEKHM1	9842	genome.wustl.edu	37	17	43516885	43516885	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr17:43516885T>A	ENST00000430334.3	-	11	3150	c.3017A>T	c.(3016-3018)cAc>cTc	p.H1006L	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.H917L|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1006					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GATGTCGTGGTGCTGGCAGAT	0.587																																																0			17											119	92	101					17																	43516885		2203	4300	6503	40872668	SO:0001583	missense	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.3017A>T	17.37:g.43516885T>A	ENSP00000389913:p.His1006Leu		40872668	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804688	0.70682	.	.	ENSG00000225190	ENST00000430334;ENST00000421073	T;T	0.63417	-0.04;-0.04	5.2	5.2	0.72013	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.589122	0.19497	N	0.112837	T	0.52597	0.1744	L	0.29908	0.895	0.29529	N	0.852902	P;P	0.48089	0.905;0.762	B;B	0.42827	0.399;0.334	T	0.57010	-0.7884	10	0.52906	T	0.07	.	13.1378	0.59419	0.0:0.0:0.0:1.0	.	917;1006	F8W648;Q9Y4G2	.;PKHM1_HUMAN	L	1006;917	ENSP00000389913:H1006L;ENSP00000414352:H917L	ENSP00000414352:H917L	H	-	2	0	PLEKHM1	40872668	0.674000	0.27549	0.998000	0.56505	0.842000	0.47809	1.719000	0.38011	2.197000	0.70478	0.454000	0.30748	CAC		0.587	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		A	43516885	T	A	43516885	3	1	198	1	0	0	0	0	1	0	0	0	12080	1696	59	5	161	5	PLEKHM1	17	43516885	Missense_Mutation	SNP	T	TCGA-23-2641-01A-01D-1526-09	8216595	43516885	37678325	73	11464											
CACNG4	27092	genome.wustl.edu	37	17	65026879	65026879	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr17:65026879G>T	ENST00000262138.3	+	4	745	c.743G>T	c.(742-744)aGg>aTg	p.R248M	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	248					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCAGCTCAAGGTCCACCGAG	0.612																																																0			17											62	64	63					17																	65026879		2203	4300	6503	62457341	SO:0001583	missense	27092			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.743G>T	17.37:g.65026879G>T	ENSP00000262138:p.Arg248Met		62457341	B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661833	0.29515	.	.	ENSG00000075461	ENST00000262138	T	0.59772	0.24	4.98	3.79	0.43588	.	0.336079	0.28958	N	0.013586	T	0.56093	0.1962	M	0.72353	2.195	0.09310	N	0.999992	P	0.37955	0.612	B	0.39419	0.299	T	0.53746	-0.8395	10	0.39692	T	0.17	-16.494	10.9103	0.47106	0.1636:0.0:0.8364:0.0	.	248	Q9UBN1	CCG4_HUMAN	M	248	ENSP00000262138:R248M	ENSP00000262138:R248M	R	+	2	0	CACNG4	62457341	0.697000	0.27767	0.932000	0.37286	0.668000	0.39293	3.751000	0.55165	2.344000	0.79699	0.650000	0.86243	AGG		0.612	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		T	65026879	G	T	65026879	3	4	198	1	0	0	0	0	1	0	0	0	2559	1000	35	3	757	3	CACNG4	17	65026879	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	21509994	65026879	16168331	74	11465											
CYP4F8	11283	genome.wustl.edu	37	19	15734012	15734012	+	RNA	SNP	C	C	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr19:15734012C>A	ENST00000441682.2	+	0	806							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTGTACTTCCTCACTCCCTG	0.567																																																0			19											72	74	73					19																	15734012		2203	4300	6503	15595012			11283			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15734012C>A			15595012		Missense_Mutation	SNP	ENST00000441682.2	37		.	.	.	.	.	.	.	.	.	.	.	14.90	2.672667	0.47781	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.2	3.2	0.36748	.	0.081791	0.45867	U	0.000335	T	0.51432	0.1674	.	.	.	0.29756	N	0.835921	B;P	0.43392	0.319;0.805	B;P	0.44811	0.314;0.461	T	0.68834	-0.5304	7	0.66056	D	0.02	.	11.8813	0.52578	0.0:1.0:0.0:0.0	.	61;249	B4DU85;P98187	.;CP4F8_HUMAN	I	248;61;98	.	ENSP00000314398:L61I	L	+	1	0	CYP4F8	15595012	0.672000	0.27530	0.855000	0.33649	0.120000	0.20174	2.545000	0.45769	1.607000	0.50170	0.411000	0.27672	CTC		0.567	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		A	15734012	C	A	15734012	1	1	198	0	1	0	0	0	0	0	0	0	4191	681	24	3		3	CYP4F8	19	15734012	RNA	SNP	C	TCGA-23-2641-01A-01D-1526-09		15734012	43394971	75	11466											
TMEM38A	79041	genome.wustl.edu	37	19	16799174	16799174	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr19:16799174G>T	ENST00000187762.2	+	6	983	c.892G>T	c.(892-894)Gcg>Tcg	p.A298S		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	298						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GGCCAAGAAGGCGGATTAGGG	0.652																																																0			19											23	24	24					19																	16799174		2202	4300	6502	16660174	SO:0001583	missense	79041			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.892G>T	19.37:g.16799174G>T	ENSP00000187762:p.Ala298Ser		16660174	A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	12.78	2.040570	0.35989	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.39	3.35	0.38373	.	0.171620	0.50627	D	0.000109	T	0.49029	0.1533	L	0.61218	1.895	0.58432	D	0.999999	P	0.36144	0.539	B	0.34991	0.193	T	0.39583	-0.9607	9	0.10636	T	0.68	-5.8014	11.3422	0.49539	0.0888:0.0:0.9112:0.0	.	298	Q9H6F2	TM38A_HUMAN	S	298	.	ENSP00000187762:A298S	A	+	1	0	TMEM38A	16660174	1.000000	0.71417	0.997000	0.53966	0.172000	0.22775	4.858000	0.62947	0.853000	0.35312	0.655000	0.94253	GCG		0.652	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		T	16799174	G	T	16799174	3	4	198	1	0	0	0	0	1	0	0	0	16159	1203	42	3	914	3	TMEM38A	19	16799174	Missense_Mutation	SNP	G	TCGA-23-2641-01A-01D-1526-09	1065162	16799174	42329809	76	11467											
SIGLEC9	27180	genome.wustl.edu	37	19	51630492	51630492	+	Silent	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr19:51630492C>T	ENST00000250360.3	+	4	1021	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SIGLEC9_ENST00000440804.3_Silent_p.F318F	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	318	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CAGCTGAATTCACCTGCAGAG	0.627																																																0			19											39	38	38					19																	51630492		2203	4300	6503	56322304	SO:0001819	synonymous_variant	27180			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.954C>T	19.37:g.51630492C>T			56322304	Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	CCDS12825.1																																																																																				0.627	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		T	51630492	C	T	51630492	2	4	198	1	0	0	0	0	0	0	0	1	14318	825	29	2		2	SIGLEC9	19	51630492	Silent	SNP	C	TCGA-23-2641-01A-01D-1526-09	34831318	51630492	7498491	77	11468											
C19orf75	284369	genome.wustl.edu	37	19	51770626	51770626	+	Splice_Site	SNP	G	G	C			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr19:51770626G>C	ENST00000316401.7	+	5	791		c.e5-1		CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Splice_Site|SIGLECL1_ENST00000597824.1_Splice_Site	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TATTTCCTTAGAGTGAAACAT	0.448																																																0			19											125	128	127					19																	51770626		2203	4300	6503	56462438	SO:0001630	splice_region_variant	284369			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 75", "sialic acid binding Ig-like lectin 23, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 7"	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.411-1G>C	19.37:g.51770626G>C			56462438	Q8IYH7	Splice_Site	SNP	ENST00000316401.7	37	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299995	0.40694	.	.	ENSG00000179213	ENST00000316401	.	.	.	3.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2495	0.49017	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C19orf75	56462438	0.939000	0.31865	0.699000	0.30290	0.742000	0.42306	1.857000	0.39399	2.346000	0.79739	0.650000	0.86243	.		0.448	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635	Intron	C	51770626	G	C	51770626	5	2	198	1	0	0	0	0	0	0	1	0	1949	956	33	3	424	3	C19orf75	19	51770626	Splice_Site	SNP	G	TCGA-23-2641-01A-01D-1526-09	140134	51770626	7358357	78	11469											
ASIP	434	genome.wustl.edu	37	20	32856961	32856961	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr20:32856961C>G	ENST00000568305.1	+	4	589	c.387C>G	c.(385-387)agC>agG	p.S129R	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Missense_Mutation_p.S129R			P42127	ASIP_HUMAN	agouti signaling protein	129	Agouti. {ECO:0000255|PROSITE- ProRule:PRU00494}.				adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|generation of precursor metabolites and energy (GO:0006091)|genetic imprinting (GO:0071514)|hormone-mediated signaling pathway (GO:0009755)|melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|regulation of molecular function, epigenetic (GO:0040030)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(2)	3						GCGTGCTCAGCCTCAACTGCT	0.736																																																0			20											4	4	4					20																	32856961		1851	3700	5551	32320622	SO:0001583	missense	434				CCDS13232.1	20q11.2-q12	2010-06-24	2010-06-24		ENSG00000101440	ENSG00000101440			745	protein-coding gene	gene with protein product	"nonagouti homolog (mouse)"	600201	"agouti (mouse)-signaling protein", "agouti signaling protein, nonagouti homolog (mouse)"	AGTIL		7937887, 7757071	Standard	NM_001672		Approved	ASP	uc002xah.1	P42127	OTTHUMG00000032289	ENST00000568305.1:c.387C>G	20.37:g.32856961C>G	ENSP00000454804:p.Ser129Arg		32320622	Q3SXL2	Missense_Mutation	SNP	ENST00000568305.1	37	CCDS13232.1	.	.	.	.	.	.	.	.	.	.	C	6.212	0.407189	0.11754	.	.	ENSG00000101440	ENST00000374954	T	0.30981	1.51	4.72	0.45	0.16624	.	0.506742	0.19121	N	0.122193	T	0.13243	0.0321	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12192	-1.0557	10	0.48119	T	0.1	-6.9426	1.5483	0.02569	0.1702:0.4807:0.1655:0.1835	.	129	P42127	ASIP_HUMAN	R	129	ENSP00000364092:S129R	ENSP00000364092:S129R	S	+	3	2	ASIP	32320622	0.000000	0.05858	0.007000	0.13788	0.056000	0.15407	0.232000	0.17891	0.615000	0.30124	0.485000	0.47835	AGC		0.736	ASIP-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430541.1			G	32856961	C	G	32856961	3	3	198	1	0	0	0	0	1	0	0	0	1043	738	26	3	397	3	ASIP	20	32856961	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09		32856961	30168559	79	11470											
KCNQ2	3785	genome.wustl.edu	37	20	62039876	62039876	+	Missense_Mutation	SNP	C	C	A	rs372976131		TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr20:62039876C>A	ENST00000359125.2	-	16	1951	c.1777G>T	c.(1777-1779)Gtg>Ttg	p.V593L	KCNQ2_ENST00000357249.2_Missense_Mutation_p.V575L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.V565L|KCNQ2_ENST00000344462.4_Missense_Mutation_p.V562L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.V593L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.V601L|KCNQ2_ENST00000354587.3_Missense_Mutation_p.V601L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	593					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCCCGCCCCACGATCTGGTCC	0.692																																																0			20											24	24	24					20																	62039876		2194	4298	6492	61510320	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1777G>T	20.37:g.62039876C>A	ENSP00000352035:p.Val593Leu		61510320	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401753	0.62288	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99479	-5.98;-5.98;-5.98;-5.98;-5.98;-5.98;-5.98;-5.98;-5.98	4.87	4.87	0.63330	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.500446	0.16356	N	0.217997	D	0.98735	0.9575	N	0.16743	0.435	0.48511	D	0.99966	P;P;D;D	0.58268	0.942;0.654;0.982;0.978	P;B;P;P	0.60789	0.749;0.173;0.603;0.879	D	0.99799	1.1035	10	0.42905	T	0.14	-15.6184	17.981	0.89141	0.0:1.0:0.0:0.0	.	565;575;562;593	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	L	575;593;563;601;593;562;565;589;601	ENSP00000349789:V575L;ENSP00000352035:V593L;ENSP00000359246:V563L;ENSP00000346601:V601L;ENSP00000352718:V593L;ENSP00000399612:V562L;ENSP00000353668:V565L;ENSP00000339611:V589L;ENSP00000359244:V601L	ENSP00000339611:V589L	V	-	1	0	KCNQ2	61510320	0.998000	0.40836	0.992000	0.48379	0.836000	0.47400	3.831000	0.55776	2.252000	0.74401	0.491000	0.48974	GTG		0.692	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		A	62039876	C	A	62039876	3	1	198	1	0	0	0	0	1	0	0	0	8083	536	19	3	849	3	KCNQ2	20	62039876	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	29182915	62039876	985644	80	11471											
BCR	613	genome.wustl.edu	37	22	23523956	23523956	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr22:23523956C>G	ENST00000305877.8	+	1	1560	c.809C>G	c.(808-810)cCt>cGt	p.P270R	BCR_ENST00000359540.3_Missense_Mutation_p.P270R|BCR_ENST00000398512.5_Missense_Mutation_p.P270R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	270	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	AGCAGGCCCCCTTGGCCGCCC	0.667			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0			22											24	28	27					22																	23523956		2192	4280	6472	21853956	SO:0001583	missense	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.809C>G	22.37:g.23523956C>G	ENSP00000303507:p.Pro270Arg		21853956	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854554	0.51376	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.48201	1.62;1.62;0.82	4.27	3.25	0.37280	.	0.150182	0.45361	N	0.000369	T	0.44932	0.1317	L	0.27053	0.805	0.44908	D	0.997928	P;B	0.48503	0.911;0.061	P;B	0.51833	0.681;0.01	T	0.47209	-0.9135	10	0.72032	D	0.01	.	11.7562	0.51875	0.0:0.9113:0.0:0.0887	.	270;270	P11274-2;P11274	.;BCR_HUMAN	R	270	ENSP00000303507:P270R;ENSP00000352535:P270R;ENSP00000381524:P270R	ENSP00000290956:P270R	P	+	2	0	BCR	21853956	0.035000	0.19736	0.978000	0.43139	0.213000	0.24496	2.165000	0.42396	1.097000	0.41459	0.557000	0.71058	CCT		0.667	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		G	23523956	C	G	23523956	3	3	198	1	0	0	0	0	1	0	0	0	1388	681	24	3	811	3	BCR	22	23523956	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09		23523956	27780610	81	11472											
SUSD2	56241	genome.wustl.edu	37	22	24583262	24583262	+	Missense_Mutation	SNP	A	A	G	rs199745266		TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr22:24583262A>G	ENST00000358321.3	+	11	1996	c.1735A>G	c.(1735-1737)Agt>Ggt	p.S579G		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	579	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCCGTTCCTGAGTGTGTCCGT	0.657																																																0			22											164	128	140					22																	24583262		2203	4300	6503	22913262	SO:0001583	missense	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1735A>G	22.37:g.24583262A>G	ENSP00000351075:p.Ser579Gly		22913262	Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510764	0.27036	.	.	ENSG00000099994	ENST00000358321	T	0.61158	0.13	4.49	3.43	0.39272	von Willebrand factor, type D domain (3);	0.203120	0.51477	D	0.000089	T	0.64472	0.2601	L	0.57536	1.79	0.33107	D	0.539996	D	0.64830	0.994	P	0.59357	0.856	T	0.70594	-0.4829	10	0.39692	T	0.17	-22.0675	8.842	0.35148	0.8319:0.0:0.0:0.1681	.	579	Q9UGT4	SUSD2_HUMAN	G	579	ENSP00000351075:S579G	ENSP00000351075:S579G	S	+	1	0	SUSD2	22913262	1.000000	0.71417	0.992000	0.48379	0.021000	0.10359	2.070000	0.41491	0.670000	0.31165	-0.522000	0.04353	AGT		0.657	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		G	24583262	A	G	24583262	3	3	198	1	0	0	0	0	1	0	0	0	15408	304	11	4	1777	4	SUSD2	22	24583262	Missense_Mutation	SNP	A	TCGA-23-2641-01A-01D-1526-09	1059306	24583262	26721304	82	11473											
ACR	49	genome.wustl.edu	37	22	51183314	51183314	+	Silent	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chr22:51183314C>T	ENST00000216139.5	+	5	985	c.945C>T	c.(943-945)ccC>ccT	p.P315P	ACR_ENST00000527761.1_3'UTR|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	315					acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TTCGACCCCCCTTCTCCCACC	0.617																																																0			22											38	33	35					22																	51183314		2197	4297	6494	49530180	SO:0001819	synonymous_variant	49			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.945C>T	22.37:g.51183314C>T			49530180	Q6ICK2	Silent	SNP	ENST00000216139.5	37	CCDS14101.1																																																																																				0.617	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		T	51183314	C	T	51183314	2	4	198	1	0	0	0	0	0	0	0	1	169	668	24	2		2	ACR	22	51183314	Silent	SNP	C	TCGA-23-2641-01A-01D-1526-09	26600052	51183314	121252	83	11474											
PNPLA4	8228	genome.wustl.edu	37	X	7868839	7868839	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chrX:7868839A>T	ENST00000381042.4	-	7	820	c.650T>A	c.(649-651)gTg>gAg	p.V217E	PNPLA4_ENST00000537427.1_Missense_Mutation_p.V130E|PNPLA4_ENST00000444736.1_Missense_Mutation_p.V217E	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	217					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTTGAGTCTCACCAGGTTTGC	0.348																																																0			X											52	47	49					X																	7868839		2203	4299	6502	7828839	SO:0001583	missense	8228			U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.650T>A	X.37:g.7868839A>T	ENSP00000370430:p.Val217Glu		7828839	A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	A	5.487	0.274833	0.10403	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	T;T;T	0.77877	-1.13;-1.13;-1.13	4.38	1.93	0.25924	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.490144	0.20143	N	0.098324	T	0.69637	0.3133	M	0.67953	2.075	0.32309	N	0.563989	B	0.09022	0.002	B	0.06405	0.002	T	0.64550	-0.6381	10	0.49607	T	0.09	-17.5057	3.3518	0.07155	0.6835:0.0:0.1137:0.2029	.	217	P41247	PLPL4_HUMAN	E	217;217;130	ENSP00000370430:V217E;ENSP00000415245:V217E;ENSP00000443157:V130E	ENSP00000370430:V217E	V	-	2	0	PNPLA4	7828839	0.979000	0.34478	0.511000	0.27724	0.300000	0.27592	2.000000	0.40816	0.030000	0.15379	-0.376000	0.06991	GTG		0.348	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		T	7868839	A	T	7868839	3	4	198	1	0	0	0	0	1	0	0	0	12167	159	6	5	115	5	PNPLA4	23	7868839	Missense_Mutation	SNP	A	TCGA-23-2641-01A-01D-1526-09		7868839	147401721	84	11475											
IRS4	8471	genome.wustl.edu	37	X	107978426	107978426	+	Silent	SNP	G	G	A			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chrX:107978426G>A	ENST00000372129.2	-	1	1225	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	383					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGATGGCCCTGAGGTGGCAAA	0.637																																																0			X											66	67	67					X																	107978426		2203	4300	6503	107865082	SO:0001819	synonymous_variant	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1149C>T	X.37:g.107978426G>A			107865082		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																				0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		A	107978426	G	A	107978426	2	1	198	1	0	0	0	0	0	0	0	1	7842	1277	45	2		2	IRS4	23	107978426	Silent	SNP	G	TCGA-23-2641-01A-01D-1526-09	100109587	107978426	47292134	85	11476											
VGLL1	51442	genome.wustl.edu	37	X	135630949	135630949	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2641-01A-01D-1526-09	TCGA-23-2641-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f91a1a25-fede-4430-b5d9-d768bce3e101	3cc43868-18ab-4129-8ebf-af7cdfd93025	g.chrX:135630949C>T	ENST00000370634.3	+	3	586	c.416C>T	c.(415-417)aCc>aTc	p.T139I	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTGGCGGGCACCAGCTCCTTA	0.627																																																0			X											146	116	126					X																	135630949		2203	4300	6503	135458615	SO:0001583	missense	51442			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"vestigial like 1 (Drosophila)"			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.416C>T	X.37:g.135630949C>T	ENSP00000359668:p.Thr139Ile		135458615	Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	C	5.244	0.230401	0.09969	.	.	ENSG00000102243	ENST00000370634	T	0.46819	0.86	5.81	4.04	0.47022	.	0.768878	0.12604	N	0.454453	T	0.26122	0.0637	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.21861	-1.0233	10	0.24483	T	0.36	-0.2165	7.8422	0.29406	0.0:0.8073:0.0:0.1927	.	139	Q99990	VGLL1_HUMAN	I	139	ENSP00000359668:T139I	ENSP00000359668:T139I	T	+	2	0	VGLL1	135458615	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	0.379000	0.20585	0.605000	0.29947	0.600000	0.82982	ACC		0.627	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		T	135630949	C	T	135630949	3	4	198	1	0	0	0	0	1	0	0	0	17158	507	18	2	422	2	VGLL1	23	135630949	Missense_Mutation	SNP	C	TCGA-23-2641-01A-01D-1526-09	27652523	135630949	19639611	86	11477											
NUDT17	200035	genome.wustl.edu	37	1	145589324	145589324	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr1:145589324G>C	ENST00000334513.5	-	1	115	c.104C>G	c.(103-105)aCg>aGg	p.T35R	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	35							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AATGGGCCACGTCCCGAGCCC	0.692											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											13	13	13					1																	145589324		2188	4283	6471	144300681	SO:0001583	missense	200035			BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"Nudix motif containing"	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.104C>G	1.37:g.145589324G>C	ENSP00000334437:p.Thr35Arg	1695	144300681		Missense_Mutation	SNP	ENST00000334513.5	37	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748781	0.30955	.	.	ENSG00000186364	ENST00000334513	.	.	.	3.93	3.93	0.45458	.	0.303089	0.31156	N	0.008150	T	0.10723	0.0262	N	0.08118	0	0.27823	N	0.941715	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.16129	-1.0413	9	0.59425	D	0.04	-13.192	11.3342	0.49494	0.0:0.0:1.0:0.0	.	35;35	B4DNV8;P0C025	.;NUD17_HUMAN	R	35	.	ENSP00000334437:T35R	T	-	2	0	NUDT17	144300681	0.998000	0.40836	0.997000	0.53966	0.154000	0.21943	2.433000	0.44793	2.026000	0.59711	0.585000	0.79938	ACG		0.692	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395		C	145589324	G	C	145589324	3	2	199	1	0	0	0	0	1	0	0	0	10734	1145	40	3	914	3	NUDT17	1	145589324	Missense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09		145589324	103661297	1	11478											
SEMA6C	10500	genome.wustl.edu	37	1	151110197	151110197	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr1:151110197C>T	ENST00000341697.3	-	10	2437	c.746G>A	c.(745-747)cGg>cAg	p.R249Q				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	249	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCCCCAGCCGAGCATCCTC	0.567																																																0			1											123	110	115					1																	151110197		2203	4300	6503	149376821	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.746G>A	1.37:g.151110197C>T	ENSP00000344148:p.Arg249Gln		149376821	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682165	0.68042	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	4.48	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.137048	0.46442	D	0.000289	T	0.07638	0.0192	N	0.14661	0.345	0.29353	N	0.865176	D;D;D;D	0.76494	0.985;0.999;0.996;0.999	P;D;P;D	0.80764	0.792;0.975;0.77;0.994	T	0.20605	-1.0270	10	0.32370	T	0.25	.	10.5429	0.45043	0.0:0.8038:0.1962:0.0	.	249;209;249;249	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	Q	249;209;249;249;249	ENSP00000357910:R249Q;ENSP00000357908:R209Q;ENSP00000357909:R249Q;ENSP00000344148:R249Q	ENSP00000344148:R249Q	R	-	2	0	SEMA6C	149376821	0.052000	0.20516	0.986000	0.45419	0.881000	0.50899	1.510000	0.35790	2.323000	0.78572	0.561000	0.74099	CGG		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		T	151110197	C	T	151110197	3	4	199	1	0	0	0	0	1	0	0	0	14044	652	23	1	2186	1	SEMA6C	1	151110197	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09	5520873	151110197	98140424	2	11479											
ST6GAL2	84620	genome.wustl.edu	37	2	107446614	107446614	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr2:107446614A>G	ENST00000409382.3	-	5	1836	c.1226T>C	c.(1225-1227)cTt>cCt	p.L409P	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.L409P|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.L409P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	409					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTTAGGATGAAGAATGTAAAA	0.378																																																0			2											137	136	137					2																	107446614		2203	4300	6503	106813046	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1226T>C	2.37:g.107446614A>G	ENSP00000386942:p.Leu409Pro		106813046	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377580	0.82682	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.35236	1.32;1.32;1.32	6.06	6.06	0.98353	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	T	0.69577	-0.5108	10	0.87932	D	0	-26.9201	15.7905	0.78357	1.0:0.0:0.0:0.0	.	409;409	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	P	409	ENSP00000355273:L409P;ENSP00000386942:L409P;ENSP00000387332:L409P	ENSP00000355273:L409P	L	-	2	0	ST6GAL2	106813046	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	CTT		0.378	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		G	107446614	A	G	107446614	3	3	199	1	0	0	0	0	1	0	0	0	15224	72	3	4	458	4	ST6GAL2	2	107446614	Missense_Mutation	SNP	A	TCGA-23-2643-01A-01D-1526-09		107446614	135752759	3	11480											
NGEF	25791	genome.wustl.edu	37	2	233791839	233791839	+	Silent	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr2:233791839G>A	ENST00000264051.3	-	4	719	c.441C>T	c.(439-441)gcC>gcT	p.A147A	NGEF_ENST00000373552.4_Silent_p.A55A|NGEF_ENST00000409079.1_Silent_p.A55A	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	147	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.			A -> T (in Ref. 4; CAC00686). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGGGGCTGTCGGCCAGGGCCG	0.632																																																0			2											29	34	33					2																	233791839		2201	4299	6500	233500083	SO:0001819	synonymous_variant	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.441C>T	2.37:g.233791839G>A			233500083	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	ENST00000264051.3	37	CCDS2500.1																																																																																				0.632	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		A	233791839	G	A	233791839	2	1	199	1	0	0	0	0	0	0	0	1	10394	1103	39	1		1	NGEF	2	233791839	Silent	SNP	G	TCGA-23-2643-01A-01D-1526-09	126345225	233791839	9407534	4	11481											
OXSM	54995	genome.wustl.edu	37	3	25835759	25835759	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr3:25835759A>G	ENST00000280701.3	+	3	1253	c.1154A>G	c.(1153-1155)cAt>cGt	p.H385R	OXSM_ENST00000420173.2_Missense_Mutation_p.H302R	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	385					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GCAACAGGACATCTGCTGGGA	0.453																																																0			3											95	91	93					3																	25835759		2203	4300	6503	25810763	SO:0001583	missense	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.1154A>G	3.37:g.25835759A>G	ENSP00000280701:p.His385Arg		25810763		Missense_Mutation	SNP	ENST00000280701.3	37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411013	0.83340	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	5.52	5.52	0.82312	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.97131	3.945	0.41880	D	0.990313	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92201	0.5768	9	0.87932	D	0	-15.295	15.6637	0.77209	1.0:0.0:0.0:0.0	.	302;385	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	R	385;302	.	ENSP00000280701:H385R	H	+	2	0	OXSM	25810763	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	9.278000	0.95766	2.095000	0.63458	0.533000	0.62120	CAT		0.453	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		G	25835759	A	G	25835759	3	3	199	1	0	0	0	0	1	0	0	0	11335	217	8	4	1160	4	OXSM	3	25835759	Missense_Mutation	SNP	A	TCGA-23-2643-01A-01D-1526-09		25835759	172186671	5	11482											
APEH	327	genome.wustl.edu	37	3	49713594	49713594	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr3:49713594A>T	ENST00000296456.5	+	6	948	c.548A>T	c.(547-549)gAc>gTc	p.D183V	APEH_ENST00000438011.1_Missense_Mutation_p.D183V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	183					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAAGCCTTGGACGTCAGTGCC	0.582																																																0			3											57	57	57					3																	49713594		2203	4300	6503	49688598	SO:0001583	missense	327			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.548A>T	3.37:g.49713594A>T	ENSP00000296456:p.Asp183Val		49688598	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966768	0.34659	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T	0.52983	0.86;0.87;0.64	5.03	5.03	0.67393	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.100179	0.64402	D	0.000003	T	0.28665	0.0710	N	0.14661	0.345	0.47737	D	0.9995	B;B	0.25563	0.129;0.027	B;B	0.23275	0.045;0.03	T	0.11397	-1.0589	10	0.42905	T	0.14	-16.3055	8.3533	0.32316	0.8453:0.0:0.1547:0.0	.	183;183	C9JIF9;P13798	.;ACPH_HUMAN	V	183;82;108;183;180	ENSP00000296456:D183V;ENSP00000415862:D183V;ENSP00000410366:D180V	ENSP00000296456:D183V	D	+	2	0	APEH	49688598	1.000000	0.71417	0.827000	0.32855	0.925000	0.55904	4.138000	0.58017	1.894000	0.54839	0.482000	0.46254	GAC		0.582	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			T	49713594	A	T	49713594	3	4	199	1	0	0	0	0	1	0	0	0	768	275	10	5	570	5	APEH	3	49713594	Missense_Mutation	SNP	A	TCGA-23-2643-01A-01D-1526-09	23877835	49713594	148308836	6	11483											
ATR	545	genome.wustl.edu	37	3	142274948	142274948	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr3:142274948C>G	ENST00000350721.4	-	10	2233	c.2112G>C	c.(2110-2112)aaG>aaC	p.K704N	ATR_ENST00000383101.3_Missense_Mutation_p.K640N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	704					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAAATTCTTTCTTGACAATGT	0.348								Other conserved DNA damage response genes																																								0			3											95	97	97					3																	142274948		2203	4300	6503	143757638	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2112G>C	3.37:g.142274948C>G	ENSP00000343741:p.Lys704Asn		143757638	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680644	0.68042	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.68479	-0.33;-0.33	4.82	3.02	0.34903	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	L	0.32530	0.975	0.53005	D	0.99996	D	0.59767	0.986	P	0.50970	0.655	T	0.58487	-0.7628	10	0.36615	T	0.2	-14.3305	11.2165	0.48830	0.0:0.8503:0.0:0.1497	.	704	Q13535	ATR_HUMAN	N	704;640	ENSP00000343741:K704N;ENSP00000372581:K640N	ENSP00000343741:K704N	K	-	3	2	ATR	143757638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.090000	0.30902	0.740000	0.32651	0.585000	0.79938	AAG		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		G	142274948	C	G	142274948	3	3	199	1	0	0	0	0	1	0	0	0	1204	912	32	3	5974	3	ATR	3	142274948	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09	92561354	142274948	55747482	7	11484											
ANK2	287	genome.wustl.edu	37	4	114177019	114177019	+	Silent	SNP	G	G	A	rs139123934		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr4:114177019G>A	ENST00000357077.4	+	11	1172	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	ANK2_ENST00000506722.1_Silent_p.A352A|ANK2_ENST00000264366.6_Silent_p.A373A|ANK2_ENST00000394537.3_Silent_p.A373A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	373					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACGTTGCTGCGCACTGTGGCC	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		18571	0		0	False		,,,				2504	0															0			4						G	,,	1,4405	2.1+/-5.4	0,1,2202	169	148	155		1056,1119,1119	-4	1	4	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	352/1864,373/3958,373/1873	114177019	1,13005	2203	4300	6503	114396468	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1119G>A	4.37:g.114177019G>A			114396468	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114177019	G	A	114177019	2	1	199	1	0	0	0	0	0	0	0	1	621	1074	38	1		1	ANK2	4	114177019	Silent	SNP	G	TCGA-23-2643-01A-01D-1526-09		114177019	76977257	8	11485											
TRAM1L1	133022	genome.wustl.edu	37	4	118005645	118005645	+	Missense_Mutation	SNP	G	G	C	rs562701564		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr4:118005645G>C	ENST00000310754.4	-	1	1091	c.905C>G	c.(904-906)tCg>tGg	p.S302W		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	302	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GCAACTGGACGACAGAACAGC	0.448																																																0			4											120	110	113					4																	118005645		2203	4300	6503	118225093	SO:0001583	missense	133022			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.905C>G	4.37:g.118005645G>C	ENSP00000309402:p.Ser302Trp		118225093	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207663	0.39003	.	.	ENSG00000174599	ENST00000310754	D	0.85088	-1.94	3.74	3.74	0.42951	TRAM/LAG1/CLN8 homology domain (3);	0.111598	0.64402	D	0.000012	D	0.88190	0.6370	L	0.48642	1.525	0.50467	D	0.999873	D	0.69078	0.997	D	0.73708	0.981	D	0.87955	0.2726	10	0.56958	D	0.05	-24.3637	11.3444	0.49552	0.0:0.0:1.0:0.0	.	302	Q8N609	TR1L1_HUMAN	W	302	ENSP00000309402:S302W	ENSP00000309402:S302W	S	-	2	0	TRAM1L1	118225093	1.000000	0.71417	0.324000	0.25361	0.336000	0.28762	4.487000	0.60293	2.385000	0.81259	0.650000	0.86243	TCG		0.448	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		C	118005645	G	C	118005645	3	2	199	1	0	0	0	0	1	0	0	0	16452	1059	37	3	208	3	TRAM1L1	4	118005645	Missense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09	3828626	118005645	73148631	9	11486											
MLF1IP	201973	genome.wustl.edu	37	4	185616499	185616499	+	IGR	SNP	G	G	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr4:185616499G>C	ENST00000314970.6	+	0	2289				MLF1IP_ENST00000281453.5_Silent_p.A400A|MLF1IP_ENST00000506535.1_5'Flank	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)						mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)	p.A400A(1)									GATGGCTTTCGGCTCCCAGAA	0.388																																																1	Substitution - coding silent(1)	large_intestine(1)	4											149	158	155					4																	185616499		2203	4300	6503	185853493	SO:0001628	intergenic_variant	79682			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"coiled-coil domain containing 111"	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495		4.37:g.185616499G>C			185853493	D3DP55|D6RDM1|Q5HYJ9	Silent	SNP	ENST00000314970.6	37	CCDS3837.1																																																																																				0.388	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		C	185616499	G	C	185616499	1	2	199	0	1	0	0	0	0	0	0	0	9615	1103	39	3		3	MLF1IP	4	185616499	IGR	SNP	G	TCGA-23-2643-01A-01D-1526-09	67610854	185616499	5537777	10	11487											
PARP8	79668	genome.wustl.edu	37	5	50073958	50073958	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr5:50073958C>G	ENST00000281631.5	+	8	732	c.574C>G	c.(574-576)Ctt>Gtt	p.L192V	PARP8_ENST00000503750.2_Missense_Mutation_p.L192V|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.L192V|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.L192V|PARP8_ENST00000505554.1_Missense_Mutation_p.L171V	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	192						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TGTTAGCTTTCTTGATGTAAG	0.259																																																0			5											100	99	99					5																	50073958		2202	4294	6496	50109715	SO:0001583	missense	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.574C>G	5.37:g.50073958C>G	ENSP00000281631:p.Leu192Val		50109715	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920245	0.73098	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000002	T	0.72843	0.3511	L	0.46157	1.445	0.80722	D	1	P;D;P	0.56035	0.956;0.974;0.956	D;D;D	0.67725	0.931;0.953;0.931	T	0.69749	-0.5061	8	.	.	.	-15.8092	17.0861	0.86611	0.0:1.0:0.0:0.0	.	84;192;192	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	V	192;192;192;192;171	.	.	L	+	1	0	PARP8	50109715	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.127000	0.50484	2.716000	0.92895	0.650000	0.86243	CTT		0.259	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		G	50073958	C	G	50073958	3	3	199	1	0	0	0	0	1	0	0	0	11465	913	32	3	604	3	PARP8	5	50073958	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09		50073958	130841302	11	11488											
RREB1	6239	genome.wustl.edu	37	6	7230840	7230840	+	Silent	SNP	G	G	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr6:7230840G>C	ENST00000349384.6	+	10	2822	c.2508G>C	c.(2506-2508)gcG>gcC	p.A836A	RREB1_ENST00000379933.3_Silent_p.A836A|RREB1_ENST00000334984.6_Silent_p.A836A|RREB1_ENST00000379938.2_Silent_p.A836A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	836					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCGCAGAGGCGCCGGCCGCTG	0.692																																																0			6											7	7	7					6																	7230840		1858	3589	5447	7175839	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2508G>C	6.37:g.7230840G>C			7175839	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																				0.692	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			C	7230840	G	C	7230840	2	2	199	1	0	0	0	0	0	0	0	1	13682	1074	38	3		3	RREB1	6	7230840	Silent	SNP	G	TCGA-23-2643-01A-01D-1526-09		7230840	163884227	12	11489											
GSTA4	2941	genome.wustl.edu	37	6	52843335	52843335	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr6:52843335C>A	ENST00000370959.1	-	7	719	c.602G>T	c.(601-603)gGc>gTc	p.G201V	GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000541324.1_Missense_Mutation_p.G108V|GSTA4_ENST00000370960.1_Missense_Mutation_p.G108V|Y_RNA_ENST00000516297.1_RNA			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	201	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CTTCTTGCTGCCAGGTTCAAG	0.378																																																0			6											155	141	146					6																	52843335		2203	4300	6503	52951294	SO:0001583	missense	2941			AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"Glutathione S-transferases / Soluble"	4629	protein-coding gene	gene with protein product		605450	"glutathione S-transferase A4"			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.602G>T	6.37:g.52843335C>A	ENSP00000359998:p.Gly201Val		52951294	B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786677	0.90367	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.49	5.49	0.81192	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.096519	0.64402	D	0.000001	T	0.60353	0.2262	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68213	-0.5468	10	0.87932	D	0	-24.8963	19.343	0.94352	0.0:1.0:0.0:0.0	.	201	O15217	GSTA4_HUMAN	V	201;108;108;201	ENSP00000360002:G201V;ENSP00000439439:G108V;ENSP00000359999:G108V;ENSP00000359998:G201V	ENSP00000359998:G201V	G	-	2	0	GSTA4	52951294	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.568000	0.67385	2.741000	0.93983	0.650000	0.86243	GGC		0.378	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512		A	52843335	C	A	52843335	3	1	199	1	0	0	0	0	1	0	0	0	6833	739	26	3	70	3	GSTA4	6	52843335	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09	45612495	52843335	118271732	13	11490											
TMEM184A	202915	genome.wustl.edu	37	7	1590564	1590564	+	Missense_Mutation	SNP	G	G	A	rs201764681		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr7:1590564G>A	ENST00000297477.5	-	3	590	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	92					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AGGAGCAGGCGGATGATGTAA	0.627													G|||	1	0.000199681	0	0	5008	,	,		14761	0.001		0	False		,,,				2504	0															0			7							CYS/ARG	0,4406		0,0,2203	93	102	99		274	5.2	1	7		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM184A	NM_001097620.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	92/414	1590564	1,13005	2203	4300	6503	1557090	SO:0001583	missense	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.274C>T	7.37:g.1590564G>A	ENSP00000297477:p.Arg92Cys		1557090	Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	CCDS43537.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.13	3.767768	0.69878	0.0	1.16E-4	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.15	5.15	0.70609	.	0.000000	0.85682	U	0.000000	D	0.83083	0.5177	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89578	0.3818	10	0.87932	D	0	-5.0589	18.6128	0.91293	0.0:0.0:1.0:0.0	.	92	Q6ZMB5	T184A_HUMAN	C	92	ENSP00000297477:R92C;ENSP00000325945:R92C;ENSP00000398382:R92C;ENSP00000389092:R92C;ENSP00000403499:R92C	ENSP00000297477:R92C	R	-	1	0	TMEM184A	1557090	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.650000	0.98490	2.396000	0.81511	0.407000	0.27541	CGC		0.627	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		A	1590564	G	A	1590564	3	1	199	1	0	0	0	0	1	0	0	0	16104	1116	39	1	995	1	TMEM184A	7	1590564	Missense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09		1590564	157548099	14	11491											
GUSB	2990	genome.wustl.edu	37	7	65447157	65447157	+	Missense_Mutation	SNP	G	G	C	rs535382125		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr7:65447157G>C	ENST00000304895.4	-	1	144	c.14C>G	c.(13-15)tCg>tGg	p.S5W	GUSB_ENST00000345660.6_Missense_Mutation_p.S5W|GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.S5W	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	5					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GGCAACCGCCGACCCCCGGGC	0.756																																																0			7											3	4	4					7																	65447157		1692	3490	5182	65084592	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.14C>G	7.37:g.65447157G>C	ENSP00000302728:p.Ser5Trp		65084592	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613542	0.46631	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95788	-3.81;-3.7;-3.62	4.35	-3.96	0.04106	.	2.564990	0.01354	N	0.011998	D	0.91219	0.7233	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.80061	-0.1540	10	0.37606	T	0.19	.	5.5809	0.17248	0.4052:0.2508:0.344:0.0	.	5;5	E9PCV0;P08236	.;BGLR_HUMAN	W	5	ENSP00000302728:S5W;ENSP00000391390:S5W;ENSP00000340734:S5W	ENSP00000302728:S5W	S	-	2	0	GUSB	65084592	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.100000	0.00604	-0.790000	0.04492	-1.088000	0.02184	TCG		0.756	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		C	65447157	G	C	65447157	3	2	199	1	0	0	0	0	1	0	0	0	6902	1059	37	3	1989	3	GUSB	7	65447157	Missense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09	63856593	65447157	93691506	15	11492											
TES	26136	genome.wustl.edu	37	7	115889146	115889146	+	Silent	SNP	A	A	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr7:115889146A>G	ENST00000358204.4	+	3	401	c.186A>G	c.(184-186)aaA>aaG	p.K62K	AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Intron|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000485009.1_3'UTR|TES_ENST00000393481.2_Silent_p.K53K	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	62					negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AGGATCGAAAAGTGGGAAAAC	0.353																																																0			7											78	77	77					7																	115889146		2203	4300	6503	115676382	SO:0001819	synonymous_variant	26136			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.186A>G	7.37:g.115889146A>G			115676382	A4D0U6|Q9GZQ1|Q9HAJ9	Silent	SNP	ENST00000358204.4	37	CCDS5763.1																																																																																				0.353	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		G	115889146	A	G	115889146	2	3	199	1	0	0	0	0	0	0	0	1	15765	69	3	4		4	TES	7	115889146	Silent	SNP	A	TCGA-23-2643-01A-01D-1526-09	50441989	115889146	43249517	16	11493											
KLF10	7071	genome.wustl.edu	37	8	103664187	103664187	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr8:103664187T>C	ENST00000285407.6	-	3	673	c.373A>G	c.(373-375)Act>Gct	p.T125A	KLF10_ENST00000395884.3_Missense_Mutation_p.T114A	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	125					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GGTTTGGCAGTATCTGAGAGT	0.483											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)											0			8											76	82	80					8																	103664187		2203	4300	6503	103733363	SO:0001583	missense	7071			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.373A>G	8.37:g.103664187T>C	ENSP00000285407:p.Thr125Ala	1375	103733363	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.322135	0.01320	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.12361	2.69;2.74	5.84	-11.7	0.00046	.	1.169960	0.05896	N	0.629056	T	0.04137	0.0115	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24977	-1.0145	10	0.11794	T	0.64	.	5.985	0.19430	0.0935:0.4524:0.2851:0.1689	.	125;114	Q13118;O75411	KLF10_HUMAN;.	A	125;114	ENSP00000285407:T125A;ENSP00000379222:T114A	ENSP00000285407:T125A	T	-	1	0	KLF10	103733363	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-1.847000	0.01675	-2.099000	0.00849	-0.290000	0.09829	ACT		0.483	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			C	103664187	T	C	103664187	3	2	199	1	0	0	0	0	1	0	0	0	8338	1638	57	4	1077	4	KLF10	8	103664187	Missense_Mutation	SNP	T	TCGA-23-2643-01A-01D-1526-09		103664187	42699835	17	11494											
UCP2	7351	genome.wustl.edu	37	11	73689120	73689120	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr11:73689120G>T	ENST00000310473.3	-	4	990	c.148C>A	c.(148-150)Cca>Aca	p.P50T	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.P50T	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	50					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCGCGCACTGGCCCCTGACTT	0.592																																					Colon(191;388 2040 43557 45622 48925)											0			11											34	37	36					11																	73689120		2200	4293	6493	73366768	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.148C>A	11.37:g.73689120G>T	ENSP00000312029:p.Pro50Thr		73366768	Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	G	6.257	0.415452	0.11870	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615	T;T;T	0.78003	-1.14;-1.14;-1.14	6.07	-3.01	0.05463	Mitochondrial carrier domain (2);	1.058660	0.07231	N	0.862570	T	0.65450	0.2692	L	0.40543	1.245	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.14023	0.002;0.01	T	0.48258	-0.9051	10	0.22706	T	0.39	0.0056	8.3689	0.32404	0.2627:0.3992:0.3382:0.0	.	50;50	F5GX45;P55851	.;UCP2_HUMAN	T	50;50;23	ENSP00000312029:P50T;ENSP00000441147:P50T;ENSP00000439951:P23T	ENSP00000312029:P50T	P	-	1	0	UCP2	73366768	0.000000	0.05858	0.589000	0.28718	0.242000	0.25591	-0.606000	0.05654	-0.349000	0.08274	-0.819000	0.03115	CCA		0.592	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		T	73689120	G	T	73689120	3	4	199	1	0	0	0	0	1	0	0	0	16931	1203	42	3	801	3	UCP2	11	73689120	Missense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09		73689120	61317396	18	11495											
COPS7A	50813	genome.wustl.edu	37	12	6838451	6838451	+	Silent	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr12:6838451G>A	ENST00000543155.1	+	5	848	c.366G>A	c.(364-366)ctG>ctA	p.L122L	COPS7A_ENST00000534947.1_Silent_p.L122L|COPS7A_ENST00000538410.1_Silent_p.L122L|COPS7A_ENST00000229251.3_Silent_p.L122L|COPS7A_ENST00000534877.1_Silent_p.L122L|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000539735.1_Silent_p.L122L	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	122	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						CTCTTGCCCTGCGTAATGTGC	0.577																																																0			12											187	149	162					12																	6838451		2203	4300	6503	6708712	SO:0001819	synonymous_variant	50813			AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A", "COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.366G>A	12.37:g.6838451G>A			6708712	A8K9A6|Q9NVX3|Q9UJW4	Silent	SNP	ENST00000543155.1	37	CCDS8558.1																																																																																				0.577	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402740.1			A	6838451	G	A	6838451	2	1	199	1	0	0	0	0	0	0	0	1	3738	1306	46	2		2	COPS7A	12	6838451	Silent	SNP	G	TCGA-23-2643-01A-01D-1526-09		6838451	127013444	19	11496											
KLRC1	3821	genome.wustl.edu	37	12	10603159	10603159	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr12:10603159C>G	ENST00000359151.3	-	3	388	c.207G>C	c.(205-207)gaG>gaC	p.E69D	KLRC1_ENST00000536188.1_Missense_Mutation_p.E69D|KLRC1_ENST00000408006.3_Missense_Mutation_p.E69D|KLRC1_ENST00000544822.1_Missense_Mutation_p.E69D|KLRC1_ENST00000347831.5_Missense_Mutation_p.E69D	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	69					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CAATGAGCTTCTCTGGAGCTG	0.423																																																0			12											103	100	101					12																	10603159		2203	4300	6503	10494426	SO:0001583	missense	3821			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"Killer cell lectin-like receptors", "CD molecules"	6374	protein-coding gene	gene with protein product	"NKG2-1/B activating NK receptor"	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.207G>C	12.37:g.10603159C>G	ENSP00000352064:p.Glu69Asp		10494426		Missense_Mutation	SNP	ENST00000359151.3	37	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277216	0.23307	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	3.7	2.8	0.32819	.	0.392328	0.21993	N	0.066130	T	0.32376	0.0827	M	0.87456	2.885	0.26075	N	0.981164	D;D	0.69078	0.982;0.997	D;D	0.77557	0.939;0.99	T	0.06881	-1.0802	10	0.62326	D	0.03	.	7.3555	0.26717	0.0:0.8697:0.0:0.1303	.	69;69	P26715-2;P26715	.;NKG2A_HUMAN	D	69	ENSP00000441432:E69D;ENSP00000352064:E69D;ENSP00000385304:E69D;ENSP00000256965:E69D;ENSP00000438038:E69D	ENSP00000256965:E69D	E	-	3	2	KLRC1	10494426	0.001000	0.12720	0.839000	0.33178	0.034000	0.12701	-0.012000	0.12699	0.842000	0.35045	0.467000	0.42956	GAG		0.423	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		G	10603159	C	G	10603159	3	3	199	1	0	0	0	0	1	0	0	0	8415	912	32	3	514	3	KLRC1	12	10603159	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09	3764708	10603159	123248736	20	11497											
ABCD2	225	genome.wustl.edu	37	12	39994461	39994461	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr12:39994461G>A	ENST00000308666.3	-	6	1693	c.1558C>T	c.(1558-1560)Ctc>Ttc	p.L520F		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	520	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATTCTGAAGAGAGAACTTTTC	0.363																																																0			12											79	87	84					12																	39994461		2203	4300	6503	38280728	SO:0001583	missense	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1558C>T	12.37:g.39994461G>A	ENSP00000310688:p.Leu520Phe		38280728	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019627	0.93462	.	.	ENSG00000173208	ENST00000308666	D	0.97016	-4.21	5.64	5.64	0.86602	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97214	0.9873	9	.	.	.	-25.9989	19.712	0.96099	0.0:0.0:1.0:0.0	.	520	Q9UBJ2	ABCD2_HUMAN	F	520	ENSP00000310688:L520F	.	L	-	1	0	ABCD2	38280728	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.847000	0.86896	2.656000	0.90262	0.460000	0.39030	CTC		0.363	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		A	39994461	G	A	39994461	3	1	199	1	0	0	0	0	1	0	0	0	61	942	33	2	684	2	ABCD2	12	39994461	Missense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09	29391302	39994461	93857434	21	11498											
MMP17	4326	genome.wustl.edu	37	12	132328609	132328609	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr12:132328609C>A	ENST00000360564.1	+	6	1053	c.951C>A	c.(949-951)gaC>gaA	p.D317E	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.D233E|MMP17_ENST00000535004.1_5'Flank	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	317					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	AGCCCCCAGACAACCGGTCCA	0.677																																																0			12																																								130894562	SO:0001583	missense	4326			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.951C>A	12.37:g.132328609C>A	ENSP00000353767:p.Asp317Glu		130894562	Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.025179	0.00414	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865	T;T;T	0.16457	2.34;2.36;2.59	4.65	0.562	0.17290	.	1.077680	0.07092	N	0.838886	T	0.08179	0.0204	L	0.28274	0.84	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.47699	-0.9097	10	0.02654	T	1	.	0.4315	0.00472	0.2398:0.3336:0.1721:0.2545	.	317	Q9ULZ9	MMP17_HUMAN	E	317;233;158	ENSP00000353767:D317E;ENSP00000441106:D233E;ENSP00000442104:D158E	ENSP00000353767:D317E	D	+	3	2	MMP17	130894562	0.981000	0.34729	0.006000	0.13384	0.028000	0.11728	0.446000	0.21694	0.118000	0.18165	-0.137000	0.14449	GAC		0.677	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		A	132328609	C	A	132328609	3	1	199	1	0	0	0	0	1	0	0	0	9656	477	17	3	973	3	MMP17	12	132328609	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09	92334148	132328609	1523286	22	11499											
HNRNPA1L2	144983	genome.wustl.edu	37	13	53217390	53217390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr13:53217390G>T	ENST00000357495.2	+	1	823	c.763G>T	c.(763-765)Gga>Tga	p.G255*	HNRNPA1L2_ENST00000398039.1_Nonsense_Mutation_p.G255*|HNRNPA1L2_ENST00000342657.3_Nonsense_Mutation_p.G255*			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	255	Gly-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						aagcaattttggaggtggtgg	0.478																																																0			13											18	19	19					13																	53217390		1733	3268	5001	52115391	SO:0001587	stop_gained	144983				CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"RNA binding motif (RRM) containing"	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.763G>T	13.37:g.53217390G>T	ENSP00000350090:p.Gly255*		52115391	Q5TBS2	Nonsense_Mutation	SNP	ENST00000357495.2	37	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	g	14.98	2.698468	0.48307	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	.	.	.	0.352	0.352	0.16051	.	0.171187	0.22115	U	0.064432	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	.	.	.	X	255	.	ENSP00000341285:G255X	G	+	1	0	HNRNPA1L2	52115391	0.997000	0.39634	0.900000	0.35374	0.384000	0.30261	2.075000	0.41538	0.455000	0.26910	0.089000	0.15464	GGA		0.478	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		T	53217390	G	T	53217390	4	4	199	1	0	0	0	0	0	1	0	0	7258	1349	47	3	765	3	HNRNPA1L2	13	53217390	Nonsense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09		53217390	61952488	23	11500											
TEP1	7011	genome.wustl.edu	37	14	20844277	20844277	+	Missense_Mutation	SNP	C	C	T	rs201759110		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr14:20844277C>T	ENST00000262715.5	-	42	6275	c.6235G>A	c.(6235-6237)Ggg>Agg	p.G2079R	TEP1_ENST00000556935.1_Missense_Mutation_p.G1971R|TEP1_ENST00000545983.1_Missense_Mutation_p.G417R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2079					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.G2079R(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCCGGCCCCCGGTGGCCAGG	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		17308	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	endometrium(1)	14											74	84	81					14																	20844277		2203	4300	6503	19914117	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6235G>A	14.37:g.20844277C>T	ENSP00000262715:p.Gly2079Arg		19914117	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.1	4.492190	0.84962	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.72051	-0.62;-0.62;-0.62	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052122	0.85682	D	0.000000	D	0.88228	0.6380	H	0.94183	3.505	0.42493	D	0.992902	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.71184	0.943;0.953;0.968;0.972	D	0.91430	0.5165	10	0.87932	D	0	-16.7161	16.3566	0.83237	0.0:1.0:0.0:0.0	.	417;1971;1422;2079	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	R	2079;2079;1971;417	ENSP00000262715:G2079R;ENSP00000452574:G1971R;ENSP00000438849:G417R	ENSP00000262715:G2079R	G	-	1	0	TEP1	19914117	0.917000	0.31117	0.966000	0.40874	0.970000	0.65996	3.936000	0.56568	2.590000	0.87494	0.563000	0.77884	GGG		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20844277	C	T	20844277	3	4	199	1	0	0	0	0	1	0	0	0	15759	652	23	1	1704	1	TEP1	14	20844277	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09		20844277	86505263	24	11501											
LBXCOR1	390598	genome.wustl.edu	37	15	68118526	68118526	+	Silent	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr15:68118526C>T	ENST00000380035.2	+	2	418	c.360C>T	c.(358-360)cgC>cgT	p.R120R	SKOR1_ENST00000554240.1_Silent_p.R81R|SKOR1_ENST00000341418.5_Silent_p.R306R|SKOR1_ENST00000389002.1_Silent_p.R111R|SKOR1_ENST00000554054.1_Silent_p.R92R			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	120					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ACAACCGCCGCGTGGCCCTGG	0.637																																																0			15											75	73	74					15																	68118526		2200	4298	6498	65905580	SO:0001819	synonymous_variant	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.360C>T	15.37:g.68118526C>T			65905580	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37																																																																																					0.637	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		T	68118526	C	T	68118526	2	4	199	1	0	0	0	0	0	0	0	1	8655	755	27	1		1	LBXCOR1	15	68118526	Silent	SNP	C	TCGA-23-2643-01A-01D-1526-09		68118526	34412866	25	11502											
KREMEN2	79412	genome.wustl.edu	37	16	3015034	3015034	+	Splice_Site	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr16:3015034G>T	ENST00000303746.5	+	2	846	c.269G>T	c.(268-270)cGt>cTt	p.R90L	PKMYT1_ENST00000571102.1_5'Flank|KREMEN2_ENST00000571007.1_Splice_Site_p.R90L|KREMEN2_ENST00000572045.1_Splice_Site_p.R90L|KREMEN2_ENST00000319500.6_Splice_Site_p.R90L|KREMEN2_ENST00000575885.1_Splice_Site_p.R90L|KREMEN2_ENST00000575769.1_Splice_Site_p.R90L			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	90	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						AACTTCTGCCGGTGAGGGGCG	0.746																																																0			16											2	3	3					16																	3015034		1534	3289	4823	2955035	SO:0001630	splice_region_variant	79412			BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.269+1G>T	16.37:g.3015034G>T			2955035	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	ENST00000303746.5	37	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462513	0.96240	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	D;D	0.93906	-3.31;-3.31	4.69	4.69	0.59074	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.44483	D	0.000459	D	0.98220	0.9411	H	0.99090	4.425	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.998;0.997;0.999	D	0.99577	1.0972	10	0.87932	D	0	.	15.1111	0.72359	0.0:0.0:1.0:0.0	.	90;90;90;90;90;90	B4DXF6;Q53F67;Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;.;.;KREM2_HUMAN	L	90	ENSP00000304422:R90L;ENSP00000322079:R90L	ENSP00000304422:R90L	R	+	2	0	KREMEN2	2955035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.479000	0.66813	2.142000	0.66516	0.561000	0.74099	CGT		0.746	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347	Missense_Mutation	T	3015034	G	T	3015034	5	4	199	1	0	0	0	0	0	0	1	0	8443	1130	39	3	275	3	KREMEN2	16	3015034	Splice_Site	SNP	G	TCGA-23-2643-01A-01D-1526-09		3015034	87339719	26	11503											
SLC12A4	6560	genome.wustl.edu	37	16	67986208	67986208	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr16:67986208C>T	ENST00000316341.3	-	7	936	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	SLC12A4_ENST00000338335.3_Missense_Mutation_p.V266M|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.V266M|SLC12A4_ENST00000422611.2_Missense_Mutation_p.V268M|SLC12A4_ENST00000572037.1_Missense_Mutation_p.V218M|SLC12A4_ENST00000541864.2_Missense_Mutation_p.V235M|SLC12A4_ENST00000537830.2_Missense_Mutation_p.V260M	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	266					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCACAAACACCACCAGGGTC	0.483																																																0			16											182	172	175					16																	67986208		2198	4300	6498	66543709	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.796G>A	16.37:g.67986208C>T	ENSP00000318557:p.Val266Met		66543709	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253101	0.80135	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1	4.86	4.86	0.63082	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.96460	3.825	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.999;0.999;0.997;0.995;0.998	D	0.98272	1.0504	10	0.87932	D	0	.	18.337	0.90291	0.0:1.0:0.0:0.0	.	268;266;235;260;266;266	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	M	268;235;260;266;266	ENSP00000395983:V268M;ENSP00000438334:V235M;ENSP00000445962:V260M;ENSP00000343374:V266M;ENSP00000318557:V266M	ENSP00000318557:V266M	V	-	1	0	SLC12A4	66543709	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.776000	0.85560	2.425000	0.82216	0.305000	0.20034	GTG		0.483	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		T	67986208	C	T	67986208	3	4	199	1	0	0	0	0	1	0	0	0	14388	507	18	2	2533	2	SLC12A4	16	67986208	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09	64971174	67986208	22368545	27	11504											
TP53	7157	genome.wustl.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	199	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09		7577538	73617672	28	11505											
GFAP	2670	genome.wustl.edu	37	17	42992478	42992478	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr17:42992478C>T	ENST00000253408.5	-	1	442	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.R126Q|GFAP_ENST00000586793.1_Missense_Mutation_p.R126Q	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	126	Coil 1B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTGATCGAGCCGCAGCCGCAG	0.642																																																0			17											38	38	38					17																	42992478		2203	4300	6503	40348004	SO:0001583	missense	2670			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.377G>A	17.37:g.42992478C>T	ENSP00000253408:p.Arg126Gln		40348004	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	1.104	-0.660170	0.03454	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990	D;D;D	0.87334	-2.24;-2.24;-2.24	4.58	2.58	0.30949	Filament (1);	0.300687	0.32918	N	0.005483	T	0.48259	0.1490	N	0.00107	-2.115	0.36989	D	0.894715	B;B	0.24882	0.113;0.004	B;B	0.15484	0.013;0.003	T	0.61964	-0.6954	10	0.02654	T	1	.	6.8944	0.24247	0.0:0.6226:0.0:0.3774	.	126;126	E9PAX3;P14136	.;GFAP_HUMAN	Q	126;101;126;126	ENSP00000253408:R126Q;ENSP00000403962:R126Q;ENSP00000366189:R126Q	ENSP00000253408:R126Q	R	-	2	0	GFAP	40348004	1.000000	0.71417	0.995000	0.50966	0.217000	0.24651	2.649000	0.46656	1.286000	0.44565	0.462000	0.41574	CGG		0.642	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		T	42992478	C	T	42992478	3	4	199	1	0	0	0	0	1	0	0	0	6337	652	23	1	1086	1	GFAP	17	42992478	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09	35414940	42992478	38202732	29	11506											
ZNF468	90333	genome.wustl.edu	37	19	53344477	53344477	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr19:53344477C>G	ENST00000595646.1	-	4	1190	c.1070G>C	c.(1069-1071)tGt>tCt	p.C357S	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.C304S|ZNF468_ENST00000396409.4_Missense_Mutation_p.C304S			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ACATTCATTACATGTGTAAGG	0.373																																																0			19											110	112	111					19																	53344477		2203	4300	6503	58036289	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1070G>C	19.37:g.53344477C>G	ENSP00000470381:p.Cys357Ser		58036289	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	16.18	3.051166	0.55218	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	D;D	0.85171	-1.95;-1.95	1.92	1.92	0.25849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93795	0.8016	H	0.95187	3.635	0.30543	N	0.766244	D	0.89917	1.0	D	0.91635	0.999	D	0.89612	0.3842	9	0.87932	D	0	.	10.8221	0.46610	0.0:1.0:0.0:0.0	.	357	Q5VIY5	ZN468_HUMAN	S	357;304;304;107	ENSP00000379690:C304S;ENSP00000445669:C304S	ENSP00000243639:C357S	C	-	2	0	ZNF468	58036289	0.999000	0.42202	0.495000	0.27527	0.865000	0.49528	6.098000	0.71458	1.048000	0.40298	0.416000	0.27883	TGT		0.373	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		G	53344477	C	G	53344477	3	3	199	1	0	0	0	0	1	0	0	0	17928	478	17	3	502	3	ZNF468	19	53344477	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09		53344477	5784506	30	11507											
CTCFL	140690	genome.wustl.edu	37	20	56083841	56083841	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr20:56083841G>A	ENST00000608263.1	-	8	2156	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	CTCFL_ENST00000433949.3_Missense_Mutation_p.R294C|CTCFL_ENST00000423479.3_Missense_Mutation_p.R499C|CTCFL_ENST00000502686.2_Missense_Mutation_p.R237C|CTCFL_ENST00000608440.1_Missense_Mutation_p.R499C|CTCFL_ENST00000608425.1_Missense_Mutation_p.R499C|CTCFL_ENST00000429804.3_Missense_Mutation_p.R449C|CTCFL_ENST00000422869.2_Missense_Mutation_p.R499C|CTCFL_ENST00000432255.2_Missense_Mutation_p.R355C|CTCFL_ENST00000371196.2_Missense_Mutation_p.R499C|CTCFL_ENST00000243914.3_Missense_Mutation_p.R499C|CTCFL_ENST00000539382.1_Missense_Mutation_p.R294C|CTCFL_ENST00000609232.1_Missense_Mutation_p.R499C|CTCFL_ENST00000608903.1_Missense_Mutation_p.R237C	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	499					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTCATATGACGTTCCTAAGAG	0.428																																																0			20											104	92	96					20																	56083841		2203	4300	6503	55517247	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1495C>T	20.37:g.56083841G>A	ENSP00000476783:p.Arg499Cys		55517247	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002101	0.74932	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.39	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39407	N	0.001369	T	0.49457	0.1558	N	0.25332	0.735	0.80722	D	1	P;P;P;D;D;P;P	0.67145	0.953;0.84;0.655;0.996;0.996;0.84;0.84	B;B;B;P;P;B;B	0.52159	0.348;0.116;0.076;0.691;0.691;0.116;0.07	T	0.45906	-0.9229	10	0.49607	T	0.09	-18.417	7.9527	0.30025	0.1492:0.0:0.7209:0.1299	.	499;355;499;449;499;499;499	A6XGM9;A6XGM8;A6XGM2;E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;.;.;.;CTCFL_HUMAN	C	499;499;499;449;499;237;355;294;499	ENSP00000415579:R499C;ENSP00000243914:R499C;ENSP00000360239:R499C;ENSP00000415329:R449C;ENSP00000392034:R499C;ENSP00000437999:R237C;ENSP00000409344:R355C;ENSP00000439998:R294C;ENSP00000399061:R499C	ENSP00000243914:R499C	R	-	1	0	CTCFL	55517247	1.000000	0.71417	0.027000	0.17364	0.013000	0.08279	6.194000	0.72082	0.752000	0.32923	0.655000	0.94253	CGT		0.428	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		A	56083841	G	A	56083841	3	1	199	1	0	0	0	0	1	0	0	0	4001	1145	40	1	508	1	CTCFL	20	56083841	Missense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09		56083841	6941679	31	11508											
CLIC6	54102	genome.wustl.edu	37	21	36081021	36081021	+	Missense_Mutation	SNP	A	A	G	rs150066189		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr21:36081021A>G	ENST00000360731.3	+	5	1688	c.1688A>G	c.(1687-1689)cAt>cGt	p.H563R	CLIC6_ENST00000349499.2_Missense_Mutation_p.H545R			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	563	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GGGACCCAACATCCCGAATCT	0.403													A|||	1	0.000199681	8e-04	0	5008	,	,		20409	0		0	False		,,,				2504	0															0			21						A	ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	71	61	64		1634	4.8	0.8	21	dbSNP_134	64	0,8600		0,0,4300	no	missense	CLIC6	NM_053277.1	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	545/687	36081021	1,13005	2203	4300	6503	35002891	SO:0001583	missense	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1688A>G	21.37:g.36081021A>G	ENSP00000353959:p.His563Arg		35002891	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	16.16	3.043858	0.55110	2.27E-4	0.0	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.93604	-3.25;-3.25	4.77	4.77	0.60923	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96873	0.8979	M	0.87682	2.9	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.85130	0.992;0.997	D	0.97631	1.0142	10	0.87932	D	0	-1.0608	14.744	0.69477	1.0:0.0:0.0:0.0	.	563;545	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	R	563;545	ENSP00000353959:H563R;ENSP00000290332:H545R	ENSP00000290332:H545R	H	+	2	0	CLIC6	35002891	1.000000	0.71417	0.827000	0.32855	0.002000	0.02628	9.047000	0.93823	2.128000	0.65567	0.533000	0.62120	CAT		0.403	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36081021	A	G	36081021	3	3	199	1	0	0	0	0	1	0	0	0	3530	217	8	4	1648	4	CLIC6	21	36081021	Missense_Mutation	SNP	A	TCGA-23-2643-01A-01D-1526-09		36081021	12048874	32	11509											
SUMO3	6612	genome.wustl.edu	37	21	46233960	46233960	+	Silent	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr21:46233960G>T	ENST00000397898.3	-	2	163	c.81C>A	c.(79-81)tcC>tcA	p.S27S	SUMO3_ENST00000332859.6_Silent_p.S27S|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.S27S|SUMO3_ENST00000397893.3_Silent_p.S27S					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		ACTGCACCACGGAGCCGTCCT	0.597																																																0			21											192	174	180					21																	46233960		2203	4300	6503	45058388	SO:0001819	synonymous_variant	6612				CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"SMT3 (suppressor of mif two 3, yeast) homolog 1", "SMT3 suppressor of mif two 3 homolog 3 (yeast)", "SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.81C>A	21.37:g.46233960G>T			45058388		Silent	SNP	ENST00000397898.3	37																																																																																					0.597	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			T	46233960	G	T	46233960	2	4	199	1	0	0	0	0	0	0	0	1	15389	1103	39	3		3	SUMO3	21	46233960	Silent	SNP	G	TCGA-23-2643-01A-01D-1526-09	10152939	46233960	1895935	33	11510											
PANX2	56666	genome.wustl.edu	37	22	50617477	50617477	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr22:50617477C>T	ENST00000395842.2	+	3	1805	c.1805C>T	c.(1804-1806)cCt>cTt	p.P602L	PANX2_ENST00000159647.5_Missense_Mutation_p.P602L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	602					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCTGTGGCCCCTCTGACACCA	0.697																																																0			22											24	23	23					22																	50617477		2187	4295	6482	48959604	SO:0001583	missense	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1805C>T	22.37:g.50617477C>T	ENSP00000379183:p.Pro602Leu		48959604	B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315072	0.23908	.	.	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	T;T	0.23348	1.92;1.91	3.72	2.66	0.31614	.	0.664997	0.13437	N	0.387990	T	0.15652	0.0377	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17837	-1.0356	10	0.49607	T	0.09	-0.2941	7.5061	0.27545	0.1667:0.7427:0.0:0.0906	.	602;602	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	L	602;602;279	ENSP00000159647:P602L;ENSP00000379183:P602L	ENSP00000159647:P602L	P	+	2	0	PANX2	48959604	0.887000	0.30362	0.109000	0.21407	0.466000	0.32739	4.034000	0.57289	0.872000	0.35775	0.313000	0.20887	CCT		0.697	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		T	50617477	C	T	50617477	3	4	199	1	0	0	0	0	1	0	0	0	11421	681	24	2	1815	2	PANX2	22	50617477	Missense_Mutation	SNP	C	TCGA-23-2643-01A-01D-1526-09		50617477	687089	34	11511											
TAF1	6872	genome.wustl.edu	37	X	70608604	70608604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrX:70608604G>A	ENST00000373790.4	+	17	2634	c.2583G>A	c.(2581-2583)tgG>tgA	p.W861*	TAF1_ENST00000423759.1_Nonsense_Mutation_p.W882*|TAF1_ENST00000449580.1_Nonsense_Mutation_p.W861*|TAF1_ENST00000276072.3_Nonsense_Mutation_p.W882*	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	861	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACTCAAACTGGTGGGTGCTTA	0.433																																																0			X											168	143	151					X																	70608604		2203	4300	6503	70525329	SO:0001587	stop_gained	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2583G>A	X.37:g.70608604G>A	ENSP00000362895:p.Trp861*		70525329	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Nonsense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	42	9.310952	0.99133	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9102	0.88931	0.0:0.0:1.0:0.0	.	.	.	.	X	861;861;882;882	.	ENSP00000276072:W882X	W	+	3	0	TAF1	70525329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.249000	0.74217	0.594000	0.82650	TGG		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		A	70608604	G	A	70608604	4	1	199	1	0	0	0	0	0	1	0	0	15513	1270	44	2	2712	2	TAF1	23	70608604	Nonsense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09		70608604	84661956	35	11512											
TAF1	6872	genome.wustl.edu	37	X	70614011	70614011	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrX:70614011A>C	ENST00000373790.4	+	22	3370	c.3319A>C	c.(3319-3321)Atg>Ctg	p.M1107L	TAF1_ENST00000423759.1_Missense_Mutation_p.M1128L|TAF1_ENST00000449580.1_Missense_Mutation_p.M1107L|TAF1_ENST00000276072.3_Missense_Mutation_p.M1128L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1107					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATTGAGAACATGTTGCAGAA	0.453																																																0			X											125	97	107					X																	70614011		2203	4300	6503	70530736	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3319A>C	X.37:g.70614011A>C	ENSP00000362895:p.Met1107Leu		70530736	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	14.87	2.663066	0.47572	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.24	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	N	0.17723	0.515	0.58432	D	0.999999	B;B;B	0.26975	0.161;0.165;0.161	B;B;B	0.34038	0.174;0.147;0.105	T	0.10086	-1.0645	10	0.56958	D	0.05	.	10.9881	0.47532	0.8461:0.1539:0.0:0.0	.	1107;1107;1128	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	L	1107;1107;1128;1128	ENSP00000362895:M1107L;ENSP00000389000:M1107L;ENSP00000406549:M1128L;ENSP00000276072:M1128L	ENSP00000276072:M1128L	M	+	1	0	TAF1	70530736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.033000	0.76504	1.744000	0.51775	0.430000	0.28490	ATG		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		C	70614011	A	C	70614011	3	2	199	1	0	0	0	0	1	0	0	0	15513	217	8	5	3468	5	TAF1	23	70614011	Missense_Mutation	SNP	A	TCGA-23-2643-01A-01D-1526-09	5407	70614011	84656549	36	11513											
CXorf57	55086	genome.wustl.edu	37	X	105855952	105855952	+	Splice_Site	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrX:105855952C>T	ENST00000372548.4	+	1	751	c.642C>T	c.(640-642)agC>agT	p.S214S	CXorf57_ENST00000372544.2_Splice_Site_p.S214S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	214							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ACAACTTTAGCGGTAAGTGTT	0.413																																																0			X											72	75	74					X																	105855952		2203	4299	6502	105742608	SO:0001630	splice_region_variant	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.643+1C>T	X.37:g.105855952C>T			105742608	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	CCDS14519.1																																																																																				0.413	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	Silent	T	105855952	C	T	105855952	5	4	199	1	0	0	0	0	0	0	1	0	4113	782	27	1	644	1	CXorf57	23	105855952	Splice_Site	SNP	C	TCGA-23-2643-01A-01D-1526-09	35241941	105855952	49414608	37	11514											
PNMA5	114824	genome.wustl.edu	37	X	152159634	152159634	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrX:152159634G>T	ENST00000439251.1	-	2	947	c.509C>A	c.(508-510)cCa>cAa	p.P170Q	PNMA5_ENST00000452693.1_Missense_Mutation_p.P170Q|PNMA5_ENST00000535214.1_Missense_Mutation_p.P170Q|PNMA5_ENST00000361887.5_Missense_Mutation_p.P170Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	170					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTCGCCTGGGCTAGGGGA	0.522																																																0			X											96	86	90					X																	152159634		2203	4300	6503	151910290	SO:0001583	missense	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.509C>A	X.37:g.152159634G>T	ENSP00000388850:p.Pro170Gln		151910290	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968141	0.34754	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	3.05	1.14	0.20703	.	.	.	.	.	T	0.18593	0.0446	L	0.39633	1.23	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13098	-1.0522	9	0.39692	T	0.17	.	4.8779	0.13665	0.0:0.2365:0.5168:0.2467	.	170	Q96PV4	PNMA5_HUMAN	Q	170	ENSP00000354834:P170Q;ENSP00000445775:P170Q;ENSP00000388850:P170Q;ENSP00000392342:P170Q	ENSP00000354834:P170Q	P	-	2	0	PNMA5	151910290	0.016000	0.18221	0.000000	0.03702	0.054000	0.15201	1.864000	0.39469	0.181000	0.19994	0.468000	0.43344	CCA		0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		T	152159634	G	T	152159634	3	4	199	1	0	0	0	0	1	0	0	0	12156	1348	47	3	841	3	PNMA5	23	152159634	Missense_Mutation	SNP	G	TCGA-23-2643-01A-01D-1526-09	46303682	152159634	3110926	38	11515											
ZMYM6	9204	genome.wustl.edu	37	1	35480362	35480362	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr1:35480362C>A	ENST00000357182.4	-	6	958	c.731G>T	c.(730-732)aGt>aTt	p.S244I	ZMYM6_ENST00000373340.2_Missense_Mutation_p.S244I|ZMYM6_ENST00000487874.1_Missense_Mutation_p.S244I|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	244					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ACCAGAGCTACTATAGCAATA	0.418																																																0			1											129	118	121					1																	35480362		2203	4300	6503	35252949	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.731G>T	1.37:g.35480362C>A	ENSP00000349708:p.Ser244Ile		35252949	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720658	0.68959	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.26223	1.75;2.89	4.9	3.96	0.45880	.	0.200350	0.51477	D	0.000100	T	0.46718	0.1407	L	0.60455	1.87	0.34539	D	0.71005	D;D;D	0.76494	0.991;0.995;0.999	P;D;D	0.76575	0.601;0.945;0.988	T	0.62091	-0.6927	10	0.52906	T	0.07	-4.6899	15.4036	0.74861	0.0:0.8602:0.1398:0.0	.	147;244;244	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	I	244	ENSP00000362437:S244I;ENSP00000349708:S244I	ENSP00000349708:S244I	S	-	2	0	ZMYM6	35252949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.648000	0.54410	1.378000	0.46305	0.563000	0.77884	AGT		0.418	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		A	35480362	C	A	35480362	3	1	200	1	0	0	0	0	1	0	0	0	17704	565	20	3	3290	3	ZMYM6	1	35480362	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09		35480362	213770259	1	11516											
UTP11L	51118	genome.wustl.edu	37	1	38484245	38484245	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr1:38484245C>A	ENST00000373014.4	+	4	399	c.338C>A	c.(337-339)gCt>gAt	p.A113D	UTP11L_ENST00000537711.1_Missense_Mutation_p.A113D|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	113					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTTGCAGAAGCTAAGGTAATT	0.338																																																0			1											79	86	84					1																	38484245		2203	4300	6503	38256832	SO:0001583	missense	51118			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.338C>A	1.37:g.38484245C>A	ENSP00000362105:p.Ala113Asp		38256832	A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	CCDS429.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190194	0.58017	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	6.07	4.23	0.50019	.	0.260739	0.44285	D	0.000471	T	0.60157	0.2247	M	0.72624	2.21	0.47245	D	0.999362	P	0.50369	0.934	P	0.49637	0.617	T	0.58137	-0.7689	9	0.12430	T	0.62	-1.3745	10.6941	0.45888	0.0:0.7944:0.0:0.2056	.	113	Q9Y3A2	UTP11_HUMAN	D	113	.	ENSP00000362105:A113D	A	+	2	0	UTP11L	38256832	0.887000	0.30362	1.000000	0.80357	0.987000	0.75469	1.431000	0.34925	0.916000	0.36871	-0.136000	0.14681	GCT		0.338	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		A	38484245	C	A	38484245	3	1	200	1	0	0	0	0	1	0	0	0	17094	797	28	3	352	3	UTP11L	1	38484245	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	3003883	38484245	210766376	2	11517											
GSTM4	2948	genome.wustl.edu	37	1	110201708	110201708	+	Silent	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr1:110201708G>A	ENST00000369836.4	+	7	852	c.543G>A	c.(541-543)ctG>ctA	p.L181L	GSTM4_ENST00000326729.5_Silent_p.L181L|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Silent_p.L120L|GSTM4_ENST00000369833.1_Silent_p.L140L	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	181	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TTCCAAATCTGAAGGACTTCA	0.502																																																0			1											362	338	346					1																	110201708		2203	4297	6500	110003231	SO:0001819	synonymous_variant	2948			M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"Glutathione S-transferases / Soluble"	4636	protein-coding gene	gene with protein product		138333	"glutathione S-transferase M4"			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.543G>A	1.37:g.110201708G>A			110003231	A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Silent	SNP	ENST00000369836.4	37	CCDS807.1																																																																																				0.502	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		A	110201708	G	A	110201708	2	1	200	1	0	0	0	0	0	0	0	1	6840	1277	45	2		2	GSTM4	1	110201708	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09	71717463	110201708	139048913	3	11518											
NRAS	4893	genome.wustl.edu	37	1	115256451	115256451	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr1:115256451C>T	ENST00000369535.4	-	3	513	c.260G>A	c.(259-261)aGc>aAc	p.S87N		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	87					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATGACTTGCTATTATTGAT	0.413		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	0			1											161	142	148					1																	115256451		2203	4300	6503	115057974	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.260G>A	1.37:g.115256451C>T	ENSP00000358548:p.Ser87Asn		115057974	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502184	0.44455	.	.	ENSG00000213281	ENST00000369535	T	0.76839	-1.05	5.08	4.17	0.49024	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000002	T	0.61476	0.2350	L	0.48218	1.51	0.52099	D	0.999945	B	0.20550	0.046	B	0.29440	0.102	T	0.62774	-0.6783	10	0.40728	T	0.16	.	13.3861	0.60797	0.0:0.9246:0.0:0.0754	.	87	P01111	RASN_HUMAN	N	87	ENSP00000358548:S87N	ENSP00000358548:S87N	S	-	2	0	NRAS	115057974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.247000	0.51422	1.359000	0.45940	0.655000	0.94253	AGC		0.413	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		T	115256451	C	T	115256451	3	4	200	1	0	0	0	0	1	0	0	0	10640	797	28	2	321	2	NRAS	1	115256451	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	5054743	115256451	133994170	4	11519											
CELF3	11189	genome.wustl.edu	37	1	151687080	151687080	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr1:151687080G>A	ENST00000290583.4	-	2	1011	c.218C>T	c.(217-219)aCg>aTg	p.T73M	AL589765.1_ENST00000442233.2_Intron|RIIAD1_ENST00000326413.3_Intron|CELF3_ENST00000290585.4_Missense_Mutation_p.T73M	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	73	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T73M(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCCTGGAAGCGTCTTCTGTTC	0.602																																																1	Substitution - Missense(1)	large_intestine(1)	1											36	31	33					1																	151687080		2188	4267	6455	149953704	SO:0001583	missense	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.218C>T	1.37:g.151687080G>A	ENSP00000290583:p.Thr73Met		149953704	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.994740|3.994740	0.74703|0.74703	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|T;T	.|0.73789	.|-0.78;1.36	4.64|4.64	3.73|3.73	0.42828|0.42828	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.124055	.|0.53938	.|D	.|0.000059	T|T	0.76399|0.76399	0.3982|0.3982	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;0.999;1.0;1.0	.|P;D;D;D	.|0.71870	.|0.908;0.954;0.975;0.972	T|T	0.79505|0.79505	-0.1776|-0.1776	5|10	.|0.87932	.|D	.|0	-11.5238|-11.5238	10.5805|10.5805	0.45252|0.45252	0.0946:0.0:0.9054:0.0|0.0946:0.0:0.9054:0.0	.|.	.|73;73;73;73	.|Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.|.;.;CELF3_HUMAN;.	C|M	75|73	.|ENSP00000290585:T73M;ENSP00000290583:T73M	.|ENSP00000290583:T73M	R|T	-|-	1|2	0|0	CELF3|CELF3	149953704|149953704	1.000000|1.000000	0.71417|0.71417	0.904000|0.904000	0.35570|0.35570	0.924000|0.924000	0.55760|0.55760	9.235000|9.235000	0.95353|0.95353	1.176000|1.176000	0.42840|0.42840	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.602	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		A	151687080	G	A	151687080	3	1	200	1	0	0	0	0	1	0	0	0	3217	1145	40	1	1223	1	CELF3	1	151687080	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	36430629	151687080	97563541	5	11520											
RORC	6097	genome.wustl.edu	37	1	151787421	151787421	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr1:151787421G>A	ENST00000318247.6	-	5	886	c.779C>T	c.(778-780)cCg>cTg	p.P260L	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Missense_Mutation_p.P239L|RORC_ENST00000392697.3_Missense_Mutation_p.P314L	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	260	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGTGCCTCCGGTGTGCTGCG	0.607																																																0			1											50	48	49					1																	151787421		2203	4300	6503	150054045	SO:0001583	missense	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.779C>T	1.37:g.151787421G>A	ENSP00000327025:p.Pro260Leu		150054045	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505732	0.26949	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94537	-3.4;-3.45;-3.41	5.29	3.05	0.35203	.	1.061520	0.07517	N	0.909915	T	0.78207	0.4247	N	0.04043	-0.29	0.44976	D	0.997998	B;B;B;B	0.12630	0.001;0.006;0.0;0.001	B;B;B;B	0.09377	0.0;0.004;0.001;0.001	T	0.69312	-0.5178	10	0.48119	T	0.1	.	7.6151	0.28152	0.2874:0.0:0.7126:0.0	.	260;314;260;239	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	L	239;314;260	ENSP00000349164:P239L;ENSP00000376461:P314L;ENSP00000327025:P260L	ENSP00000327025:P260L	P	-	2	0	RORC	150054045	0.976000	0.34144	0.973000	0.42090	0.560000	0.35617	1.775000	0.38584	1.210000	0.43336	0.563000	0.77884	CCG		0.607	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			A	151787421	G	A	151787421	3	1	200	1	0	0	0	0	1	0	0	0	13533	1116	39	1	805	1	RORC	1	151787421	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	100341	151787421	97463200	6	11521											
PAQR6	79957	genome.wustl.edu	37	1	156214682	156214682	+	Silent	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr1:156214682C>T	ENST00000292291.5	-	7	788	c.630G>A	c.(628-630)agG>agA	p.R210R	PAQR6_ENST00000540423.1_Silent_p.R207R|PAQR6_ENST00000335852.1_Silent_p.R104R|PAQR6_ENST00000356983.2_Silent_p.R104R|PAQR6_ENST00000368270.1_Silent_p.R186R|PAQR6_ENST00000492619.1_5'UTR	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	210						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					AGCCGTGGCCCCTGCCCCAGC	0.642																																					GBM(16;219 398 12385 32425 38531)											0			1											23	25	25					1																	156214682		2201	4298	6499	154481306	SO:0001819	synonymous_variant	79957			AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.630G>A	1.37:g.156214682C>T			154481306	B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Silent	SNP	ENST00000292291.5	37	CCDS1136.1																																																																																				0.642	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		T	156214682	C	T	156214682	2	4	200	1	0	0	0	0	0	0	0	1	11439	622	22	2		2	PAQR6	1	156214682	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	4427261	156214682	93035939	7	11522											
OR14I1	401994	genome.wustl.edu	37	1	248844847	248844847	+	Silent	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr1:248844847C>A	ENST00000342623.3	-	1	782	c.759G>T	c.(757-759)ggG>ggT	p.G253G		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CAGCAAAGAGCCCTGTGGTAA	0.493																																																0			1											107	99	102					1																	248844847		2203	4300	6503	246911470	SO:0001819	synonymous_variant	401994				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.759G>T	1.37:g.248844847C>A			246911470		Silent	SNP	ENST00000342623.3	37	CCDS31125.1																																																																																				0.493	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		A	248844847	C	A	248844847	2	1	200	1	0	0	0	0	0	0	0	1	10947	726	26	3		3	OR14I1	1	248844847	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	92630165	248844847	405774	8	11523											
FAM49A	81553	genome.wustl.edu	37	2	16743398	16743398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:16743398G>A	ENST00000381323.3	-	6	530	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	FAM49A_ENST00000355549.2_Nonsense_Mutation_p.Q104*|FAM49A_ENST00000406434.1_Nonsense_Mutation_p.Q104*	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	104						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AATAAACTCTGAAGAGCTTTT	0.443																																																0			2											68	76	73					2																	16743398		2203	4300	6503	16606879	SO:0001587	stop_gained	81553			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.310C>T	2.37:g.16743398G>A	ENSP00000370724:p.Gln104*		16606879	B3KNZ1|Q53QW2	Nonsense_Mutation	SNP	ENST00000381323.3	37	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	G	39	7.355985	0.98231	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	.	.	.	5.57	5.57	0.84162	.	0.051638	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-20.6768	18.9342	0.92579	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000347744:Q104X	Q	-	1	0	FAM49A	16606879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.725000	0.84808	2.798000	0.96311	0.650000	0.86243	CAG		0.443	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		A	16743398	G	A	16743398	4	1	200	1	0	0	0	0	0	1	0	0	5575	1299	45	2	689	2	FAM49A	2	16743398	Nonsense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09		16743398	226455975	9	11524											
SMC6	79677	genome.wustl.edu	37	2	17913092	17913092	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:17913092C>T	ENST00000448223.2	-	6	666	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	SMC6_ENST00000381272.4_Missense_Mutation_p.A159T|SMC6_ENST00000402989.1_Missense_Mutation_p.A133T|SMC6_ENST00000351948.4_Missense_Mutation_p.A133T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	133					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACACACTGGCTTTAAAGGCA	0.363																																																0			2											160	140	146					2																	17913092		2203	4300	6503	17776573	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.397G>A	2.37:g.17913092C>T	ENSP00000404092:p.Ala133Thr		17776573	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057671	0.55325	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	5.75	3.89	0.44902	RecF/RecN/SMC (1);	0.165026	0.53938	D	0.000044	T	0.04724	0.0128	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.25719	0.132;0.012;0.042	B;B;B	0.25759	0.062;0.026;0.063	T	0.37033	-0.9723	10	0.54805	T	0.06	.	14.4514	0.67386	0.0:0.4523:0.5477:0.0	.	159;159;133	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	T	133;133;159;133;159	ENSP00000404092:A133T;ENSP00000323439:A133T;ENSP00000370672:A159T;ENSP00000384539:A133T;ENSP00000408644:A159T	ENSP00000323439:A133T	A	-	1	0	SMC6	17776573	0.998000	0.40836	0.692000	0.30179	0.939000	0.58152	2.522000	0.45572	1.387000	0.46486	0.655000	0.94253	GCC		0.363	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		T	17913092	C	T	17913092	3	4	200	1	0	0	0	0	1	0	0	0	14790	797	28	2	2970	2	SMC6	2	17913092	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	1169694	17913092	225286281	10	11525											
GPR113	165082	genome.wustl.edu	37	2	26532442	26532442	+	IGR	SNP	T	T	C	rs199902400	byFrequency	TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:26532442T>C	ENST00000311519.1	-	0	3240				GPR113_ENST00000541401.1_Missense_Mutation_p.N653S|GPR113_ENST00000421160.2_Missense_Mutation_p.N981S|GPR113_ENST00000333478.6_Missense_Mutation_p.N851S|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTTCATTTGTGGCCTA	0.507													T|||	2	0.000399361	0	0	5008	,	,		20543	0.002		0	False		,,,				2504	0															0			2											58	61	60					2																	26532442		2066	4213	6279	26385946	SO:0001628	intergenic_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225		2.37:g.26532442T>C			26385946	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	T	2.397	-0.338502	0.05243	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160	T;T;T	0.28255	1.64;1.62;1.65	6.07	-0.179	0.13299	.	.	.	.	.	T	0.17195	0.0413	L	0.36672	1.1	0.58432	D	0.999999	B;B;B	0.13594	0.002;0.008;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.30119	-0.9989	9	0.02654	T	1	.	8.6626	0.34101	0.0:0.4072:0.0:0.5928	.	981;851;653	E9PEV1;Q8IZF5-2;F5H1E4	.;.;.	S	653;851;981	ENSP00000445729:N653S;ENSP00000327396:N851S;ENSP00000388537:N981S	ENSP00000327396:N851S	N	-	2	0	GPR113	26385946	0.949000	0.32298	0.641000	0.29422	0.019000	0.09904	0.053000	0.14184	-0.033000	0.13736	-1.087000	0.02190	AAT		0.507	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		C	26532442	T	C	26532442	1	2	200	0	1	0	0	0	0	0	0	0	6630	1493	52	4		4	GPR113	2	26532442	IGR	SNP	T	TCGA-23-2645-01A-01W-1091-09	8619350	26532442	216666931	11	11526											
C2orf39	92749	genome.wustl.edu	37	2	26654775	26654775	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:26654775G>A	ENST00000288710.2	+	7	863	c.789G>A	c.(787-789)atG>atA	p.M263I	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	263					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											ACAACCGCATGAAGAAAGTAG	0.502																																																0			2											152	147	149					2																	26654775		2203	4300	6503	26508279	SO:0001583	missense	92749			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.789G>A	2.37:g.26654775G>A	ENSP00000288710:p.Met263Ile		26508279	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	G	6.185	0.402338	0.11696	.	.	ENSG00000157856	ENST00000288710;ENST00000442810	T	0.13901	2.55	5.65	-0.729	0.11158	.	0.534882	0.21628	N	0.071525	T	0.11067	0.0270	L	0.36672	1.1	0.27798	N	0.942587	B	0.09022	0.002	B	0.13407	0.009	T	0.21552	-1.0242	10	0.32370	T	0.25	-4.4212	14.3715	0.66843	0.0:0.1043:0.7743:0.1213	.	263	Q96MC2	CC164_HUMAN	I	263;92	ENSP00000288710:M263I	ENSP00000288710:M263I	M	+	3	0	CCDC164	26508279	0.999000	0.42202	0.986000	0.45419	0.184000	0.23303	0.262000	0.18460	-0.098000	0.12285	-0.262000	0.10625	ATG		0.502	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		A	26654775	G	A	26654775	3	1	200	1	0	0	0	0	1	0	0	0	2164	1290	45	2	815	2	C2orf39	2	26654775	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	122333	26654775	216544598	12	11527											
OTOF	9381	genome.wustl.edu	37	2	26712161	26712161	+	Silent	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:26712161C>A	ENST00000272371.2	-	11	1089	c.963G>T	c.(961-963)gtG>gtT	p.V321V	OTOF_ENST00000403946.3_Silent_p.V321V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	321	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGTGAATCACCTTTCAGG	0.612																																					GBM(102;732 1451 20652 24062 31372)											0			2											53	44	47					2																	26712161		2203	4300	6503	26565665	SO:0001819	synonymous_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.963G>T	2.37:g.26712161C>A			26565665	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																				0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26712161	C	A	26712161	2	1	200	1	0	0	0	0	0	0	0	1	11303	813	29	3		3	OTOF	2	26712161	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	57386	26712161	216487212	13	11528											
EMILIN1	11117	genome.wustl.edu	37	2	27306489	27306489	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:27306489C>G	ENST00000380320.4	+	4	2549	c.2050C>G	c.(2050-2052)Cgt>Ggt	p.R684G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	684					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAAGGACCGTATCATTTC	0.567																																																0			2											77	77	77					2																	27306489		2203	4300	6503	27159993	SO:0001583	missense	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2050C>G	2.37:g.27306489C>G	ENSP00000369677:p.Arg684Gly		27159993	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	6.506	0.461578	0.12342	.	.	ENSG00000138080	ENST00000380320;ENST00000544143	T	0.63913	-0.07	4.89	1.65	0.23941	.	0.614528	0.16808	N	0.198687	T	0.41073	0.1143	N	0.14661	0.345	0.27611	N	0.948664	B	0.28713	0.22	B	0.23150	0.044	T	0.20438	-1.0275	10	0.27785	T	0.31	-6.1902	12.3426	0.55103	0.706:0.294:0.0:0.0	.	684	Q9Y6C2	EMIL1_HUMAN	G	684;10	ENSP00000369677:R684G	ENSP00000369677:R684G	R	+	1	0	EMILIN1	27159993	0.971000	0.33674	1.000000	0.80357	0.647000	0.38526	0.618000	0.24373	0.513000	0.28278	0.555000	0.69702	CGT		0.567	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		G	27306489	C	G	27306489	3	3	200	1	0	0	0	0	1	0	0	0	5093	652	23	3	2064	3	EMILIN1	2	27306489	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	594328	27306489	215892884	14	11529											
CCDC88A	55704	genome.wustl.edu	37	2	55561567	55561567	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:55561567T>C	ENST00000436346.1	-	15	3231	c.2390A>G	c.(2389-2391)cAg>cGg	p.Q797R	CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q797R|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q797R|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q797R|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	797					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAGGTTTTTCTGCAATGTTTG	0.318																																																0			2											91	89	90					2																	55561567		2202	4298	6500	55415071	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2390A>G	2.37:g.55561567T>C	ENSP00000410608:p.Gln797Arg		55415071	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	T	12.82	2.052525	0.36181	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.14766	2.48;2.72;2.69;2.5	5.03	5.03	0.67393	.	0.000000	0.45867	U	0.000338	T	0.29817	0.0745	L	0.49571	1.57	0.80722	D	1	B;D;B;D;D	0.69078	0.172;0.992;0.1;0.997;0.996	B;D;B;D;D	0.75484	0.084;0.979;0.084;0.975;0.986	T	0.01879	-1.1255	10	0.23302	T	0.38	-15.7972	15.1059	0.72322	0.0:0.0:0.0:1.0	.	797;797;797;797;797	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	R	797	ENSP00000338728:Q797R;ENSP00000263630:Q797R;ENSP00000410608:Q797R;ENSP00000404431:Q797R	ENSP00000263630:Q797R	Q	-	2	0	CCDC88A	55415071	1.000000	0.71417	0.989000	0.46669	0.948000	0.59901	7.994000	0.88315	2.034000	0.60081	0.369000	0.22263	CAG		0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		C	55561567	T	C	55561567	3	2	200	1	0	0	0	0	1	0	0	0	2863	1580	55	4	3297	4	CCDC88A	2	55561567	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	28255078	55561567	187637806	15	11530											
DYSF	8291	genome.wustl.edu	37	2	71827973	71827973	+	Splice_Site	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:71827973G>T	ENST00000258104.3	+	34	4120		c.e34+1		DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000409582.3_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGAGAGAAGGTGAGGCTGGT	0.642																																																0			2	GRCh37	CS053456	DYSF	S							43	47	45					2																	71827973		2203	4299	6502	71681481	SO:0001630	splice_region_variant	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3843+1G>T	2.37:g.71827973G>T			71681481	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Splice_Site	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337193	0.81911	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0248	0.86442	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYSF	71681481	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.418000	0.97395	2.628000	0.89032	0.591000	0.81541	.		0.642	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Intron	T	71827973	G	T	71827973	5	4	200	1	0	0	0	0	0	0	1	0	4859	1275	44	3	4170	3	DYSF	2	71827973	Splice_Site	SNP	G	TCGA-23-2645-01A-01W-1091-09	16266406	71827973	171371400	16	11531											
MBD5	55777	genome.wustl.edu	37	2	149226657	149226657	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:149226657A>C	ENST00000407073.1	+	9	2142	c.1145A>C	c.(1144-1146)cAt>cCt	p.H382P	MBD5_ENST00000404807.1_Missense_Mutation_p.H382P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	382	Pro-rich.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACCAGTTTCCATTCAAATGTC	0.418																																																0			2											195	194	194					2																	149226657		2203	4300	6503	148943127	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1145A>C	2.37:g.149226657A>C	ENSP00000386049:p.His382Pro		148943127	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.68|14.68	2.607904|2.607904	0.46527|0.46527	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.32515|.	1.45;1.45|.	5.45|5.45	4.29|4.29	0.51040|0.51040	.|.	0.093959|.	0.47455|.	D|.	0.000240|.	T|T	0.39118|0.39118	0.1066|0.1066	N|N	0.14661|0.14661	0.345|0.345	0.50171|0.50171	D|D	0.999855|0.999855	P|.	0.40794|.	0.729|.	B|.	0.38056|.	0.264|.	T|T	0.15350|0.15350	-1.0440|-1.0440	10|5	0.46703|.	T|.	0.11|.	-4.8091|-4.8091	11.2446|11.2446	0.48990|0.48990	0.9285:0.0:0.0715:0.0|0.9285:0.0:0.0715:0.0	.|.	382|.	Q9P267|.	MBD5_HUMAN|.	P|L	382|122	ENSP00000386049:H382P;ENSP00000384672:H382P|.	ENSP00000384672:H382P|.	H|I	+|+	2|1	0|0	MBD5|MBD5	148943127|148943127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.212000|7.212000	0.77941|0.77941	1.021000|1.021000	0.39600|0.39600	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.418	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			C	149226657	A	C	149226657	3	2	200	1	0	0	0	0	1	0	0	0	9347	217	8	5	1159	5	MBD5	2	149226657	Missense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09	77398684	149226657	93972716	17	11532											
KCNH7	90134	genome.wustl.edu	37	2	163361026	163361026	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:163361026G>T	ENST00000332142.5	-	6	1154	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.P345H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	352					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATCTGAAGAAGGAGGTGATGA	0.373																																					GBM(196;1492 2208 17507 24132 45496)											0			2											193	190	191					2																	163361026		2203	4300	6503	163069272	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1055C>A	2.37:g.163361026G>T	ENSP00000331727:p.Pro352His		163069272	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.713962	0.48622	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98345	-4.88;-4.88	5.5	5.5	0.81552	.	0.047339	0.85682	D	0.000000	D	0.96806	0.8957	L	0.56769	1.78	0.54753	D	0.999983	B;P	0.39094	0.016;0.659	B;B	0.37888	0.042;0.26	D	0.96362	0.9267	10	0.15066	T	0.55	.	19.775	0.96388	0.0:0.0:1.0:0.0	.	345;352	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	H	352;345	ENSP00000331727:P352H;ENSP00000333781:P345H	ENSP00000333781:P345H	P	-	2	0	KCNH7	163069272	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.847000	0.86896	2.741000	0.93983	0.585000	0.79938	CCT		0.373	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		T	163361026	G	T	163361026	3	4	200	1	0	0	0	0	1	0	0	0	8037	1000	35	3	2645	3	KCNH7	2	163361026	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	14134369	163361026	79838347	18	11533											
SLC38A11	151258	genome.wustl.edu	37	2	165755172	165755172	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:165755172T>A	ENST00000409149.3	-	11	1287	c.996A>T	c.(994-996)gaA>gaT	p.E332D	SLC38A11_ENST00000409058.1_Missense_Mutation_p.E363D|SLC38A11_ENST00000303735.4_Missense_Mutation_p.E310D|SLC38A11_ENST00000409662.1_Missense_Mutation_p.E332D|RNA5SP111_ENST00000411386.1_RNA	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	332					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						GTGTCCTTGGTTCTTCAGACA	0.413																																																0			2											117	104	108					2																	165755172		2203	4300	6503	165463418	SO:0001583	missense	151258				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.996A>T	2.37:g.165755172T>A	ENSP00000386272:p.Glu332Asp		165463418	B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	T	8.490	0.861902	0.17178	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.02301	4.35;4.35;4.35;4.35	5.42	1.78	0.24846	.	0.094927	0.64402	D	0.000001	T	0.02267	0.0070	L	0.37800	1.135	0.32725	N	0.509718	B;B	0.23540	0.055;0.087	B;B	0.29353	0.101;0.061	T	0.26744	-1.0094	10	0.33940	T	0.23	-17.551	7.2454	0.26119	0.0:0.504:0.0:0.496	.	332;310	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	D	310;332;363;332	ENSP00000306178:E310D;ENSP00000386272:E332D;ENSP00000387345:E363D;ENSP00000386774:E332D	ENSP00000306178:E310D	E	-	3	2	SLC38A11	165463418	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.788000	0.38714	0.366000	0.24427	0.379000	0.24179	GAA		0.413	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		A	165755172	T	A	165755172	3	1	200	1	0	0	0	0	1	0	0	0	14606	1722	60	5	228	5	SLC38A11	2	165755172	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	2394146	165755172	77444201	19	11534											
IRS1	3667	genome.wustl.edu	37	2	227660565	227660565	+	Silent	SNP	T	T	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:227660565T>G	ENST00000305123.5	-	1	3910	c.2890A>C	c.(2890-2892)Aga>Cga	p.R964R	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	964					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCCCAGTCTGCCCATCTCG	0.647																																																0			2											44	50	48					2																	227660565		2203	4299	6502	227368809	SO:0001819	synonymous_variant	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2890A>C	2.37:g.227660565T>G			227368809		Silent	SNP	ENST00000305123.5	37	CCDS2463.1																																																																																				0.647	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		G	227660565	T	G	227660565	2	3	200	1	0	0	0	0	0	0	0	1	7840	1588	55	5		5	IRS1	2	227660565	Silent	SNP	T	TCGA-23-2645-01A-01W-1091-09	61905393	227660565	15538808	20	11535											
ARMC9	80210	genome.wustl.edu	37	2	232079714	232079714	+	Splice_Site	SNP	G	G	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr2:232079714G>C	ENST00000349938.4	+	4	542	c.348G>C	c.(346-348)ccG>ccC	p.P116P	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	116						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGGGAGACCGGTGGGTTTAC	0.498																																																0			2											84	87	86					2																	232079714		2203	4300	6503	231787958	SO:0001630	splice_region_variant	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.348+1G>C	2.37:g.232079714G>C			231787958	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	CCDS2484.1																																																																																				0.498	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	Silent	C	232079714	G	C	232079714	5	2	200	1	0	0	0	0	0	0	1	0	958	1130	39	3	358	3	ARMC9	2	232079714	Splice_Site	SNP	G	TCGA-23-2645-01A-01W-1091-09	4419149	232079714	11119659	21	11536											
XIRP1	165904	genome.wustl.edu	37	3	39225423	39225423	+	Silent	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr3:39225423G>A	ENST00000340369.3	-	2	5742	c.5514C>T	c.(5512-5514)tcC>tcT	p.S1838S	XIRP1_ENST00000421646.1_Silent_p.S521S|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1838	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGCTGGCTGGGAGTAGCTGC	0.647																																																0			3											36	39	38					3																	39225423		2203	4300	6503	39200427	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5514C>T	3.37:g.39225423G>A			39200427	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																				0.647	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39225423	G	A	39225423	2	1	200	1	0	0	0	0	0	0	0	1	17429	1219	43	2		2	XIRP1	3	39225423	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09		39225423	158797007	22	11537											
WDR6	11180	genome.wustl.edu	37	3	49050270	49050270	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr3:49050270C>T	ENST00000608424.1	+	2	1342	c.1303C>T	c.(1303-1305)Cct>Tct	p.P435S	WDR6_ENST00000395474.3_Missense_Mutation_p.P465S|WDR6_ENST00000448293.1_Missense_Mutation_p.P384S|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	435					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.P435S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GACCCTGTTTCCTGGGAAGGT	0.592																																																1	Substitution - Missense(1)	lung(1)	3											66	50	56					3																	49050270		2203	4300	6503	49025274	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1303C>T	3.37:g.49050270C>T	ENSP00000477389:p.Pro435Ser		49025274	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	C	2.707	-0.269708	0.05716	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.56941	0.43;2.24	5.4	1.12	0.20585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	1.381220	0.04049	N	0.304373	T	0.23451	0.0567	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.31696	-0.9934	10	0.09843	T	0.71	3.0621	3.9469	0.09352	0.2443:0.469:0.2053:0.0814	.	306;435;384	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	S	465;384	ENSP00000378857:P465S;ENSP00000413432:P384S	ENSP00000378857:P465S	P	+	1	0	WDR6	49025274	0.001000	0.12720	0.460000	0.27093	0.945000	0.59286	0.329000	0.19698	1.218000	0.43458	0.561000	0.74099	CCT		0.592	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			T	49050270	C	T	49050270	3	4	200	1	0	0	0	0	1	0	0	0	17310	855	30	2	1399	2	WDR6	3	49050270	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	9824847	49050270	148972160	23	11538											
RBM15B	29890	genome.wustl.edu	37	3	51430334	51430334	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr3:51430334C>G	ENST00000323686.4	+	1	1604	c.1504C>G	c.(1504-1506)Cag>Gag	p.Q502E		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	502					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCAGCAGTACCAGCCCTCGCC	0.622																																																0			3											49	53	52					3																	51430334		2203	4300	6503	51405374	SO:0001583	missense	29890			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1504C>G	3.37:g.51430334C>G	ENSP00000313890:p.Gln502Glu		51405374	A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304129	0.40795	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.15487	2.42	5.55	4.66	0.58398	Nucleotide-binding, alpha-beta plait (1);	.	.	.	.	T	0.16642	0.0400	L	0.54323	1.7	0.50632	D	0.999884	B	0.29037	0.231	B	0.29785	0.107	T	0.04400	-1.0954	9	0.23302	T	0.38	-14.5722	9.7452	0.40442	0.0:0.7849:0.1419:0.0732	.	502	Q8NDT2	RB15B_HUMAN	E	502;175	ENSP00000313890:Q502E	ENSP00000313890:Q502E	Q	+	1	0	RBM15B	51405374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.727000	0.68523	1.299000	0.44798	0.655000	0.94253	CAG		0.622	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		G	51430334	C	G	51430334	3	3	200	1	0	0	0	0	1	0	0	0	13120	595	21	3	1506	3	RBM15B	3	51430334	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	2380064	51430334	146592096	24	11539											
FAM116A	201627	genome.wustl.edu	37	3	57631413	57631413	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr3:57631413C>T	ENST00000311128.5	-	11	1082	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	338					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GTAGTATATTCTTTGAATTCA	0.318																																																0			3											98	100	99					3																	57631413		2203	4299	6502	57606453	SO:0001583	missense	201627			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1012G>A	3.37:g.57631413C>T	ENSP00000311401:p.Glu338Lys		57606453	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.543790|5.543790	0.96474|0.96474	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000477344	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79021|0.79021	0.4376|0.4376	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.72982|.	0.979|.	T|T	0.76961|0.76961	-0.2765|-0.2765	9|5	0.48119|.	T|.	0.1|.	-19.1995|-19.1995	20.2348|20.2348	0.98355|0.98355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	338|.	Q8IWF6|.	F116A_HUMAN|.	K|K	338|106	.|.	ENSP00000311401:E338K|.	E|R	-|-	1|2	0|0	FAM116A|FAM116A	57606453|57606453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.857000|6.857000	0.75455|0.75455	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.318	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		T	57631413	C	T	57631413	3	4	200	1	0	0	0	0	1	0	0	0	5407	922	32	2	854	2	FAM116A	3	57631413	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	6201079	57631413	140391017	25	11540											
ADAMTS9	56999	genome.wustl.edu	37	3	64601090	64601090	+	Silent	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr3:64601090C>T	ENST00000498707.1	-	21	3438	c.3096G>A	c.(3094-3096)ctG>ctA	p.L1032L	ADAMTS9_ENST00000295903.4_Silent_p.L1004L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1032	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCTGTCATCCAGTACATCAT	0.433																																																0			3											174	145	155					3																	64601090		2203	4300	6503	64576130	SO:0001819	synonymous_variant	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3096G>A	3.37:g.64601090C>T			64576130	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	2.156	-0.393262	0.04899	.	.	ENSG00000163638	ENST00000481060	.	.	.	5.88	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2795	0.49186	0.1279:0.8066:0.0:0.0655	.	.	.	.	X	88	.	.	W	-	2	0	ADAMTS9	64576130	1.000000	0.71417	0.993000	0.49108	0.161000	0.22273	0.975000	0.29449	0.837000	0.34925	0.555000	0.69702	TGG		0.433	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			T	64601090	C	T	64601090	2	4	200	1	0	0	0	0	0	0	0	1	273	581	21	2		2	ADAMTS9	3	64601090	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	6969677	64601090	133421340	26	11541											
MYLK	4638	genome.wustl.edu	37	3	123441087	123441087	+	Silent	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr3:123441087G>A	ENST00000475616.1	-	10	1691	c.1692C>T	c.(1690-1692)ggC>ggT	p.G564G	MYLK_ENST00000360772.3_Silent_p.G564G|MYLK_ENST00000346322.5_Silent_p.G495G|MYLK_ENST00000359169.1_Silent_p.G564G|MYLK_ENST00000360304.3_Silent_p.G564G			Q15746	MYLK_HUMAN	myosin light chain kinase	564	Ig-like C2-type 4.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCAGCCACGCCGGCCTCGC	0.672																																																0			3											16	14	15					3																	123441087		2196	4280	6476	124923777	SO:0001819	synonymous_variant	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1692C>T	3.37:g.123441087G>A			124923777	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																				0.672	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		A	123441087	G	A	123441087	2	1	200	1	0	0	0	0	0	0	0	1	10056	1074	38	1		1	MYLK	3	123441087	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09	58839997	123441087	74581343	27	11542											
SLC41A3	54946	genome.wustl.edu	37	3	125725955	125725955	+	Splice_Site	SNP	A	A	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr3:125725955A>G	ENST00000315891.6	-	11	1605		c.e11+1		SLC41A3_ENST00000383598.2_Silent_p.G430G|SLC41A3_ENST00000508835.1_Silent_p.G339G|SLC41A3_ENST00000346785.5_Splice_Site|SLC41A3_ENST00000360370.4_Silent_p.G456G	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		GGAGGCCAGTACCGAGCAGGT	0.582																																																0			3											83	77	79					3																	125725955		2203	4300	6503	127208645	SO:0001630	splice_region_variant	54946				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1366+1T>C	3.37:g.125725955A>G			127208645	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Splice_Site	SNP	ENST00000315891.6	37	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	A	9.567	1.120029	0.20877	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	.	.	.	5.52	-0.145	0.13436	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2965	0.10904	0.2252:0.4881:0.2066:0.0801	.	.	.	.	.	-1	.	.	.	-	.	.	SLC41A3	127208645	0.962000	0.33011	0.855000	0.33649	0.500000	0.33767	-0.033000	0.12246	-0.038000	0.13624	-0.254000	0.11334	.		0.582	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836	Intron	G	125725955	A	G	125725955	5	3	200	1	0	0	0	0	0	0	1	0	14634	405	14	4	261	4	SLC41A3	3	125725955	Splice_Site	SNP	A	TCGA-23-2645-01A-01W-1091-09	2284868	125725955	72296475	28	11543											
IL20RB	53833	genome.wustl.edu	37	3	136708310	136708310	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr3:136708310T>C	ENST00000329582.4	+	4	683	c.434T>C	c.(433-435)aTc>aCc	p.I145T	IL20RB_ENST00000309741.5_Missense_Mutation_p.I98T|IL20RB_ENST00000484501.1_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	145	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGGATGGAGATCACCAAAGAT	0.577																																																0			3											89	83	85					3																	136708310		2203	4300	6503	138191000	SO:0001583	missense	53833			BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.434T>C	3.37:g.136708310T>C	ENSP00000328133:p.Ile145Thr		138191000	B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124113	0.37533	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	T;T	0.78364	-1.17;-1.17	4.9	4.9	0.64082	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.914921	0.09330	N	0.817037	T	0.67487	0.2898	N	0.19112	0.55	0.09310	N	1	B	0.30563	0.285	B	0.31946	0.138	T	0.60692	-0.7213	10	0.66056	D	0.02	-2.8205	10.841	0.46715	0.0:0.0:0.0:1.0	.	145	Q6UXL0	I20RB_HUMAN	T	145;98	ENSP00000328133:I145T;ENSP00000311979:I98T	ENSP00000311979:I98T	I	+	2	0	IL20RB	138191000	0.111000	0.22076	0.245000	0.24217	0.793000	0.44817	2.675000	0.46875	2.071000	0.62044	0.533000	0.62120	ATC		0.577	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		C	136708310	T	C	136708310	3	2	200	1	0	0	0	0	1	0	0	0	7669	1435	50	4	448	4	IL20RB	3	136708310	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	10982355	136708310	61314120	29	11544											
ATP11B	23200	genome.wustl.edu	37	3	182577091	182577091	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr3:182577091G>A	ENST00000323116.5	+	12	1404	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	382					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GTATCATGAAGAATCAGATCA	0.323																																																0			3											44	42	43					3																	182577091		2203	4299	6502	184059785	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1144G>A	3.37:g.182577091G>A	ENSP00000321195:p.Glu382Lys		184059785	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303611	0.81136	.	.	ENSG00000058063	ENST00000323116	T	0.71461	-0.57	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	N	0.17248	0.465	0.80722	D	1	B	0.17852	0.024	B	0.19148	0.024	T	0.53078	-0.8489	10	0.42905	T	0.14	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	382	Q9Y2G3	AT11B_HUMAN	K	382	ENSP00000321195:E382K	ENSP00000321195:E382K	E	+	1	0	ATP11B	184059785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	GAA		0.323	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		A	182577091	G	A	182577091	3	1	200	1	0	0	0	0	1	0	0	0	1120	943	33	2	1190	2	ATP11B	3	182577091	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	45868781	182577091	15445339	30	11545											
JAKMIP1	152789	genome.wustl.edu	37	4	6066613	6066613	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr4:6066613C>G	ENST00000282924.5	-	9	1910	c.1425G>C	c.(1423-1425)ttG>ttC	p.L475F	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.L475F|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.L290F|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.L310F|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.L475F	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	475	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTACATCGTCCAAGTCTTCTT	0.552																																																0			4											160	134	143					4																	6066613		2203	4300	6503	6117514	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1425G>C	4.37:g.6066613C>G	ENSP00000282924:p.Leu475Phe		6117514	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528219	0.64860	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.35789	1.74;1.29;1.73;1.73;1.31	4.45	3.59	0.41128	.	0.262387	0.27591	N	0.018695	T	0.46737	0.1408	M	0.68317	2.08	0.41991	D	0.990845	P;D;P;D;D	0.63046	0.944;0.992;0.944;0.98;0.992	P;P;P;P;P	0.57101	0.548;0.813;0.646;0.624;0.813	T	0.40059	-0.9583	10	0.39692	T	0.17	.	7.4751	0.27371	0.0:0.7949:0.0:0.2051	.	310;475;290;475;475	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	F	475;290;475;367;475;475;310	ENSP00000386711:L475F;ENSP00000387042:L290F;ENSP00000282924:L475F;ENSP00000386925:L475F;ENSP00000386745:L310F	ENSP00000282924:L475F	L	-	3	2	JAKMIP1	6117514	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	1.140000	0.31516	0.976000	0.38417	0.561000	0.74099	TTG		0.552	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		G	6066613	C	G	6066613	3	3	200	1	0	0	0	0	1	0	0	0	7940	593	21	3	1197	3	JAKMIP1	4	6066613	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09		6066613	185087663	31	11546											
GC	2638	genome.wustl.edu	37	4	72622547	72622547	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr4:72622547T>A	ENST00000273951.8	-	8	1259	c.916A>T	c.(916-918)Atg>Ttg	p.M306L	GC_ENST00000504199.1_Missense_Mutation_p.M325L|GC_ENST00000513476.1_Missense_Mutation_p.M306L|RNA5SP163_ENST00000410304.1_RNA|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	306	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	AAAACGTCCATGGCTGTTTTT	0.428																																																0			4											85	84	85					4																	72622547		2203	4300	6503	72841411	SO:0001583	missense	2638			L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.916A>T	4.37:g.72622547T>A	ENSP00000273951:p.Met306Leu		72841411	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	T	8.761	0.923640	0.18056	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.72394	-0.65;-0.65;-0.65	5.76	3.11	0.35812	.	0.252479	0.47093	N	0.000250	T	0.63212	0.2492	L	0.61036	1.89	0.35856	D	0.827133	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.61893	-0.6969	10	0.19147	T	0.46	.	10.031	0.42101	0.3544:0.0:0.0:0.6456	.	325;306	D6RAK8;D6RF35	.;.	L	306;325;306	ENSP00000273951:M306L;ENSP00000421725:M325L;ENSP00000426683:M306L	ENSP00000273951:M306L	M	-	1	0	GC	72841411	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	0.587000	0.23909	1.076000	0.40961	0.533000	0.62120	ATG		0.428	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			A	72622547	T	A	72622547	3	1	200	1	0	0	0	0	1	0	0	0	6282	1464	51	5	528	5	GC	4	72622547	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	66555934	72622547	118531729	32	11547											
ANXA10	11199	genome.wustl.edu	37	4	169098940	169098940	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr4:169098940C>A	ENST00000359299.3	+	7	716	c.530C>A	c.(529-531)gCa>gAa	p.A177E		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	177						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GCTCAGGATGCAATGGTAACT	0.468																																																0			4											135	127	130					4																	169098940		2203	4300	6503	169335515	SO:0001583	missense	11199			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.530C>A	4.37:g.169098940C>A	ENSP00000352248:p.Ala177Glu		169335515	Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602096	0.46423	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.08634	3.07	5.34	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.36358	0.0964	M	0.91406	3.205	0.53005	D	0.999967	D;D	0.76494	0.958;0.999	P;D	0.79784	0.802;0.993	T	0.48896	-0.8994	10	0.87932	D	0	.	14.2773	0.66189	0.0:0.928:0.0:0.072	.	49;177	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	E	177	ENSP00000352248:A177E	ENSP00000352248:A177E	A	+	2	0	ANXA10	169335515	1.000000	0.71417	0.994000	0.49952	0.009000	0.06853	5.419000	0.66435	1.388000	0.46506	-0.136000	0.14681	GCA		0.468	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		A	169098940	C	A	169098940	3	1	200	1	0	0	0	0	1	0	0	0	715	710	25	3	556	3	ANXA10	4	169098940	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	96476393	169098940	22055336	33	11548											
SNX25	83891	genome.wustl.edu	37	4	186278865	186278865	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr4:186278865G>T	ENST00000504273.1	+	16	2427	c.2133G>T	c.(2131-2133)caG>caT	p.Q711H	SNX25_ENST00000264694.8_Missense_Mutation_p.Q711H|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	711					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCCTCGTTCAGGTCACTTTTG	0.373																																																0			4											160	153	156					4																	186278865		2203	4300	6503	186515859	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2133G>T	4.37:g.186278865G>T	ENSP00000426255:p.Gln711His		186515859	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805170	0.70682	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.34472	1.36;1.36	5.9	3.88	0.44766	Sorting nexin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	M	0.74546	2.27	0.49687	D	0.999814	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.992;0.999	T	0.51568	-0.8689	10	0.30854	T	0.27	-18.1578	6.5675	0.22521	0.3522:0.0:0.6478:0.0	.	427;244;711	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	H	711;711;244	ENSP00000426255:Q711H;ENSP00000264694:Q711H	ENSP00000264693:Q244H	Q	+	3	2	SNX25	186515859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.493000	0.45320	1.515000	0.48885	0.655000	0.94253	CAG		0.373	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		T	186278865	G	T	186278865	3	4	200	1	0	0	0	0	1	0	0	0	14899	991	35	3	2191	3	SNX25	4	186278865	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	17179925	186278865	4875411	34	11549											
FRG1	2483	genome.wustl.edu	37	4	190878564	190878564	+	Silent	SNP	T	T	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr4:190878564T>A	ENST00000226798.4	+	6	666	c.444T>A	c.(442-444)gcT>gcA	p.A148A	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	148					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGAAAATGGCTTTGTTGGCCT	0.368																																																0			4											12	17	16					4																	190878564		2131	4257	6388	191115558	SO:0001819	synonymous_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.444T>A	4.37:g.190878564T>A			191115558	A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1																																																																																				0.368	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		A	190878564	T	A	190878564	2	1	200	1	0	0	0	0	0	0	0	1	6046	1596	56	5		5	FRG1	4	190878564	Silent	SNP	T	TCGA-23-2645-01A-01W-1091-09	4599699	190878564	275712	35	11550											
TUBB4Q	56604	genome.wustl.edu	37	4	190904329	190904329	+	IGR	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr4:190904329G>T								FRG1 (19970 upstream) : RNA5SP174 (31963 downstream)																							AGGTGGGTGTGGGCAGTTTTA	0.542																																																0			4											14	21	19					4																	190904329		1888	4034	5922	191141323	SO:0001628	intergenic_variant	56604																															4.37:g.190904329G>T			191141323		Silent	SNP		37																																																																																				0	0.542									T	190904329	G	T	190904329	1	4	200	0	1	0	0	0	0	0	0	0	16759	1335	47	3		3	TUBB4Q	4	190904329	IGR	SNP	G	TCGA-23-2645-01A-01W-1091-09	25765	190904329	249947	36	11551											
NUP155	9631	genome.wustl.edu	37	5	37307524	37307524	+	Nonsense_Mutation	SNP	A	A	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr5:37307524A>C	ENST00000231498.3	-	25	2981	c.2778T>G	c.(2776-2778)taT>taG	p.Y926*	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Nonsense_Mutation_p.Y862*|NUP155_ENST00000381843.2_Nonsense_Mutation_p.Y867*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	926					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACACCCTCATAAAATCTCA	0.388																																																0			5											81	76	78					5																	37307524		2203	4300	6503	37343281	SO:0001587	stop_gained	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2778T>G	5.37:g.37307524A>C	ENSP00000231498:p.Tyr926*		37343281	Q9UBE9|Q9UFL5	Nonsense_Mutation	SNP	ENST00000231498.3	37	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	A	40	8.107609	0.98657	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.46	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1145	9.4962	0.38989	0.8578:0.0:0.1422:0.0	.	.	.	.	X	926;867;888;862	.	ENSP00000231498:Y926X	Y	-	3	2	NUP155	37343281	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.067000	0.57527	0.392000	0.25172	0.533000	0.62120	TAT		0.388	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		C	37307524	A	C	37307524	4	2	200	1	0	0	0	0	0	1	0	0	10756	224	8	5	1441	5	NUP155	5	37307524	Nonsense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09		37307524	143607736	37	11552											
MAP1B	4131	genome.wustl.edu	37	5	71490934	71490934	+	Silent	SNP	A	A	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr5:71490934A>G	ENST00000296755.7	+	5	2050	c.1752A>G	c.(1750-1752)gaA>gaG	p.E584E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	584					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAGCAAAGAAAAGGTAATGG	0.438																																					Melanoma(17;367 822 11631 31730 47712)											0			5											47	49	48					5																	71490934		2203	4300	6503	71526690	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1752A>G	5.37:g.71490934A>G			71526690	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.438	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		G	71490934	A	G	71490934	2	3	200	1	0	0	0	0	0	0	0	1	9228	11	1	4		4	MAP1B	5	71490934	Silent	SNP	A	TCGA-23-2645-01A-01W-1091-09	34183410	71490934	109424326	38	11553											
MEGF10	84466	genome.wustl.edu	37	5	126770395	126770395	+	Silent	SNP	T	T	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr5:126770395T>C	ENST00000274473.6	+	16	2124	c.1857T>C	c.(1855-1857)ttT>ttC	p.F619F	MEGF10_ENST00000503335.2_Silent_p.F619F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	619	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCCCTGGTTTTTATGGGCATC	0.532																																																0			5											62	58	60					5																	126770395		2203	4300	6503	126798294	SO:0001819	synonymous_variant	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1857T>C	5.37:g.126770395T>C			126798294	Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	CCDS4142.1																																																																																				0.532	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		C	126770395	T	C	126770395	2	2	200	1	0	0	0	0	0	0	0	1	9460	1838	64	4		4	MEGF10	5	126770395	Silent	SNP	T	TCGA-23-2645-01A-01W-1091-09	55279461	126770395	54144865	39	11554											
PCDHB3	56132	genome.wustl.edu	37	5	140480783	140480783	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr5:140480783A>T	ENST00000231130.2	+	1	550	c.550A>T	c.(550-552)Agt>Tgt	p.S184C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCACTCGCAGTCGTAGGGA	0.532																																																0			5											85	83	84					5																	140480783		2203	4300	6503	140460967	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.550A>T	5.37:g.140480783A>T	ENSP00000231130:p.Ser184Cys		140460967	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920313	0.52653	.	.	ENSG00000113205	ENST00000231130	T	0.54866	0.55	5.08	-2.33	0.06724	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64821	0.2633	M	0.89353	3.025	0.09310	N	1	D	0.59767	0.986	P	0.58391	0.838	T	0.56238	-0.8012	9	0.72032	D	0.01	.	2.8119	0.05444	0.3338:0.3648:0.2047:0.0967	.	184	Q9Y5E6	PCDB3_HUMAN	C	184	ENSP00000231130:S184C	ENSP00000231130:S184C	S	+	1	0	PCDHB3	140460967	0.000000	0.05858	0.000000	0.03702	0.957000	0.61999	-0.274000	0.08537	-0.292000	0.08999	0.533000	0.62120	AGT		0.532	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		T	140480783	A	T	140480783	3	4	200	1	0	0	0	0	1	0	0	0	11543	188	7	5	552	5	PCDHB3	5	140480783	Missense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09	13710388	140480783	40434477	40	11555											
PCDHB14	56122	genome.wustl.edu	37	5	140603479	140603479	+	Silent	SNP	A	A	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr5:140603479A>C	ENST00000239449.4	+	1	402	c.402A>C	c.(400-402)ctA>ctC	p.L134L	PCDHB14_ENST00000515856.2_Splice_Site	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	134					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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACATTTCTAGACAAGGAAA	0.408																																					Ovarian(141;50 1831 27899 33809 37648)											0			5											70	77	75					5																	140603479		2200	4299	6499	140583663	SO:0001819	synonymous_variant	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.402A>C	5.37:g.140603479A>C			140583663	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																				0.408	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		C	140603479	A	C	140603479	2	2	200	1	0	0	0	0	0	0	0	1	11539	407	15	5		5	PCDHB14	5	140603479	Silent	SNP	A	TCGA-23-2645-01A-01W-1091-09	122696	140603479	40311781	41	11556											
PDGFRB	5159	genome.wustl.edu	37	5	149502764	149502764	+	Splice_Site	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr5:149502764C>T	ENST00000261799.4	-	15	2493	c.2024G>A	c.(2023-2025)gGa>gAa	p.G675E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	675	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATAGATGGGTCCTGCAGAGGG	0.582			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0			5											106	87	93					5																	149502764		2203	4300	6503	149482957	SO:0001630	splice_region_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2024-1G>A	5.37:g.149502764C>T			149482957	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780954	0.90282	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.89270	-2.49	4.06	4.06	0.47325	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000173	D	0.89757	0.6807	N	0.20766	0.605	0.80722	D	1	D;D	0.89917	0.969;1.0	P;D	0.71414	0.83;0.973	D	0.91868	0.5505	10	0.87932	D	0	.	16.7915	0.85590	0.0:1.0:0.0:0.0	.	675;675	A8KAM8;P09619	.;PGFRB_HUMAN	E	675;345	ENSP00000261799:G675E	ENSP00000261799:G675E	G	-	2	0	PDGFRB	149482957	1.000000	0.71417	0.992000	0.48379	0.926000	0.56050	7.567000	0.82357	2.263000	0.75096	0.462000	0.41574	GGA		0.582	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	Missense_Mutation	T	149502764	C	T	149502764	5	4	200	1	0	0	0	0	0	0	1	0	11662	869	30	2	1332	2	PDGFRB	5	149502764	Splice_Site	SNP	C	TCGA-23-2645-01A-01W-1091-09	8899285	149502764	31412496	42	11557											
PAK1IP1	55003	genome.wustl.edu	37	6	10704742	10704742	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:10704742G>A	ENST00000379568.3	+	6	790	c.499G>A	c.(499-501)Gct>Act	p.A167T		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	167					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ACTTACAGATGCTCACATAGT	0.308																																																0			6											47	46	46					6																	10704742		2202	4300	6502	10812728	SO:0001583	missense	55003			AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"WD repeat domain containing"	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.499G>A	6.37:g.10704742G>A	ENSP00000368887:p.Ala167Thr		10812728	Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	37	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079894	0.76528	.	.	ENSG00000111845	ENST00000379568	T	0.35605	1.3	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.047431	0.85682	D	0.000000	T	0.56187	0.1968	M	0.86953	2.85	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	T	0.60954	-0.7160	10	0.49607	T	0.09	1.6069	17.2147	0.86940	0.0:0.0:1.0:0.0	.	167	Q9NWT1	PK1IP_HUMAN	T	167	ENSP00000368887:A167T	ENSP00000368887:A167T	A	+	1	0	PAK1IP1	10812728	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	6.490000	0.73645	2.651000	0.90000	0.650000	0.86243	GCT		0.308	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906		A	10704742	G	A	10704742	3	1	200	1	0	0	0	0	1	0	0	0	11400	1319	46	2	521	2	PAK1IP1	6	10704742	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09		10704742	160410325	43	11558											
TRIM15	89870	genome.wustl.edu	37	6	30131602	30131602	+	Silent	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:30131602G>T	ENST00000376694.4	+	1	610	c.141G>T	c.(139-141)ggG>ggT	p.G47G	TRIM10_ENST00000449742.2_5'Flank|TRIM10_ENST00000376704.3_5'Flank|TRIM15_ENST00000376688.1_Silent_p.G47G	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	47					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCCAGATGGGGGCCCAATCCT	0.677																																																0			6											45	43	43					6																	30131602		1509	2709	4218	30239581	SO:0001819	synonymous_variant	89870			AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.141G>T	6.37:g.30131602G>T			30239581	A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	CCDS4677.1																																																																																				0.677	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		T	30131602	G	T	30131602	2	4	200	1	0	0	0	0	0	0	0	1	16490	1219	43	3		3	TRIM15	6	30131602	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09	19426860	30131602	140983465	44	11559											
RDBP	7936	genome.wustl.edu	37	6	31922844	31922844	+	Silent	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:31922844C>G	ENST00000375429.3	-	6	622	c.396G>C	c.(394-396)ctG>ctC	p.L132L	NELFE_ENST00000375425.5_Silent_p.L139L|NELFE_ENST00000444811.2_Silent_p.L132L|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	132					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|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)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ACCTCTCATACAGAGATTTCC	0.468																																																0			6											89	93	92					6																	31922844		1511	2709	4220	32030823	SO:0001819	synonymous_variant	7936			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.396G>C	6.37:g.31922844C>G			32030823	A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	37	CCDS4730.1																																																																																				0.468	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			G	31922844	C	G	31922844	2	3	200	1	0	0	0	0	0	0	0	1	13191	465	17	3		3	RDBP	6	31922844	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	1791242	31922844	139192223	45	11560											
HSD17B8	7923	genome.wustl.edu	37	6	33173447	33173447	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:33173447G>T	ENST00000374662.3	+	5	538	c.511G>T	c.(511-513)Gca>Tca	p.A171S	HSD17B8_ENST00000469186.1_3'UTR|MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000374656.4_5'Flank	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	171					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						AAACTATGCAGCATCCAAGGC	0.582																																																0			6											47	48	47					6																	33173447		1507	2707	4214	33281425	SO:0001583	missense	7923			D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	3554	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 30C, member 1"	601417	"FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.511G>T	6.37:g.33173447G>T	ENSP00000363794:p.Ala171Ser		33281425	A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026902	0.54683	.	.	ENSG00000204228	ENST00000374662	D	0.91945	-2.94	4.52	3.61	0.41365	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.186295	0.45361	N	0.000367	D	0.84343	0.5451	L	0.50333	1.59	0.51233	D	0.999917	B	0.12013	0.005	B	0.25140	0.058	T	0.82987	-0.0184	10	0.62326	D	0.03	.	11.1874	0.48664	0.0:0.0:0.8078:0.1922	.	171	Q92506	DHB8_HUMAN	S	171	ENSP00000363794:A171S	ENSP00000363794:A171S	A	+	1	0	HSD17B8	33281425	1.000000	0.71417	0.695000	0.30226	0.947000	0.59692	4.166000	0.58203	1.059000	0.40554	0.637000	0.83480	GCA		0.582	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234		T	33173447	G	T	33173447	3	4	200	1	0	0	0	0	1	0	0	0	7389	971	34	3	529	3	HSD17B8	6	33173447	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	1250603	33173447	137941620	46	11561											
VPS52	6293	genome.wustl.edu	37	6	33236315	33236315	+	Silent	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:33236315G>A	ENST00000445902.2	-	7	878	c.660C>T	c.(658-660)tgC>tgT	p.C220C	VPS52_ENST00000436044.2_Silent_p.C95C|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	220					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGACATCTGCGCAGGCTGCTG	0.597																																																0			6											89	78	82					6																	33236315		1509	2708	4217	33344293	SO:0001819	synonymous_variant	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.660C>T	6.37:g.33236315G>A			33344293	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	CCDS4770.2																																																																																				0.597	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		A	33236315	G	A	33236315	2	1	200	1	0	0	0	0	0	0	0	1	17214	1079	38	1		1	VPS52	6	33236315	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09	62868	33236315	137878752	47	11562											
UBR2	23304	genome.wustl.edu	37	6	42541550	42541550	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:42541550G>A	ENST00000372899.1	+	2	415	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	UBR2_ENST00000372901.1_Missense_Mutation_p.G53S|UBR2_ENST00000372903.2_Missense_Mutation_p.G53S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	53					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CTACTGCAGGGGTCCCAACCC	0.443																																																0			6											103	101	101					6																	42541550		2203	4300	6503	42649528	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.157G>A	6.37:g.42541550G>A	ENSP00000361990:p.Gly53Ser		42649528	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501248	0.44455	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.71461	-0.57;0.44;0.44	5.88	5.02	0.67125	.	0.107039	0.64402	N	0.000007	T	0.50343	0.1610	M	0.62723	1.935	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.001;0.009	T	0.54289	-0.8316	10	0.11182	T	0.66	-14.6674	15.0694	0.72024	0.0678:0.0:0.9322:0.0	.	53;53	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	S	53	ENSP00000361994:G53S;ENSP00000361990:G53S;ENSP00000361992:G53S	ENSP00000361990:G53S	G	+	1	0	UBR2	42649528	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.845000	0.62853	1.494000	0.48533	0.655000	0.94253	GGT		0.443	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		A	42541550	G	A	42541550	3	1	200	1	0	0	0	0	1	0	0	0	16902	1232	43	2	163	2	UBR2	6	42541550	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	9305235	42541550	128573517	48	11563											
TPBG	7162	genome.wustl.edu	37	6	83075928	83075928	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:83075928A>C	ENST00000369750.3	+	2	1867	c.1250A>C	c.(1249-1251)aAc>aCc	p.N417T	TPBG_ENST00000535040.1_Missense_Mutation_p.N417T|TPBG_ENST00000543496.1_Missense_Mutation_p.N417T			Q13641	TPBG_HUMAN	trophoblast glycoprotein	417					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CTCAGTTCTAACTCGGATGTC	0.438																																																0			6											51	53	52					6																	83075928		2203	4300	6503	83132647	SO:0001583	missense	7162			AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.1250A>C	6.37:g.83075928A>C	ENSP00000358765:p.Asn417Thr		83132647	A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.119946	0.37436	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.60171	0.21;0.21;0.21	5.39	4.23	0.50019	.	0.315170	0.37095	N	0.002259	T	0.47248	0.1435	L	0.28274	0.84	0.51233	D	0.999918	D	0.69078	0.997	P	0.61874	0.895	T	0.51293	-0.8724	10	0.45353	T	0.12	-11.6818	11.1246	0.48310	0.9276:0.0:0.0724:0.0	.	417	Q13641	TPBG_HUMAN	T	417	ENSP00000441219:N417T;ENSP00000358765:N417T;ENSP00000440049:N417T	ENSP00000358765:N417T	N	+	2	0	TPBG	83132647	1.000000	0.71417	0.848000	0.33437	0.565000	0.35776	5.807000	0.69157	0.894000	0.36317	0.528000	0.53228	AAC		0.438	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			C	83075928	A	C	83075928	3	2	200	1	0	0	0	0	1	0	0	0	16394	43	2	5	1252	5	TPBG	6	83075928	Missense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09	40534378	83075928	88039139	49	11564											
SFRS18	25957	genome.wustl.edu	37	6	99857051	99857051	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:99857051A>T	ENST00000369239.5	-	6	875	c.671T>A	c.(670-672)aTt>aAt	p.I224N	PNISR_ENST00000466057.1_5'Flank|PNISR_ENST00000438806.1_Missense_Mutation_p.I224N	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	224						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATAGCTACCAATTTGTGGAGG	0.413																																																0			6											73	69	70					6																	99857051		2203	4300	6503	99963772	SO:0001583	missense	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.671T>A	6.37:g.99857051A>T	ENSP00000358242:p.Ile224Asn		99963772	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509141	0.64410	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.42900	0.96;0.96	5.83	5.83	0.93111	.	0.099118	0.64402	D	0.000001	T	0.55369	0.1916	M	0.74467	2.265	0.80722	D	1	D	0.69078	0.997	P	0.62184	0.899	T	0.62163	-0.6912	10	0.87932	D	0	.	16.1999	0.82063	1.0:0.0:0.0:0.0	.	224	Q8TF01	PNISR_HUMAN	N	224	ENSP00000358242:I224N;ENSP00000387997:I224N	ENSP00000358242:I224N	I	-	2	0	PNISR	99963772	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.141000	0.77330	2.224000	0.72417	0.477000	0.44152	ATT		0.413	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		T	99857051	A	T	99857051	3	4	200	1	0	0	0	0	1	0	0	0	14177	101	4	5	1774	5	SFRS18	6	99857051	Missense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09	16781123	99857051	71258016	50	11565											
ROS1	6098	genome.wustl.edu	37	6	117710739	117710739	+	Silent	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:117710739G>A	ENST00000368508.3	-	12	1731	c.1533C>T	c.(1531-1533)gtC>gtT	p.V511V	ROS1_ENST00000368507.3_Silent_p.V520V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	511					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCCATCTGTGACAAGAAAGT	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0			6											94	95	94					6																	117710739		2203	4300	6503	117817432	SO:0001819	synonymous_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1533C>T	6.37:g.117710739G>A			117817432	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																				0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			A	117710739	G	A	117710739	2	1	200	1	0	0	0	0	0	0	0	1	13534	1277	45	2		2	ROS1	6	117710739	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09	17853688	117710739	53404328	51	11566											
TMEM200A	114801	genome.wustl.edu	37	6	130761674	130761674	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:130761674A>G	ENST00000296978.3	+	3	978	c.107A>G	c.(106-108)gAg>gGg	p.E36G	TMEM200A_ENST00000392429.1_Missense_Mutation_p.E36G|TMEM200A_ENST00000545622.1_Missense_Mutation_p.E36G	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	36						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCTACCCAAGAGAAGAAGCCC	0.537																																																0			6											112	120	118					6																	130761674		2203	4300	6503	130803367	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.107A>G	6.37:g.130761674A>G	ENSP00000296978:p.Glu36Gly		130803367	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.864939	0.51482	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	5.6	0.85130	.	0.207404	0.49916	D	0.000140	T	0.50017	0.1591	L	0.44542	1.39	0.54753	D	0.999986	B	0.30542	0.284	B	0.38327	0.271	T	0.58504	-0.7625	9	0.66056	D	0.02	.	15.781	0.78260	1.0:0.0:0.0:0.0	.	36	Q86VY9	T200A_HUMAN	G	36	.	ENSP00000296978:E36G	E	+	2	0	TMEM200A	130803367	1.000000	0.71417	0.881000	0.34555	0.463000	0.32649	4.713000	0.61895	2.120000	0.65058	0.528000	0.53228	GAG		0.537	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		G	130761674	A	G	130761674	3	3	200	1	0	0	0	0	1	0	0	0	16123	304	11	4	109	4	TMEM200A	6	130761674	Missense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09	13050935	130761674	40353393	52	11567											
ENPP1	5167	genome.wustl.edu	37	6	132211633	132211633	+	Silent	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:132211633C>T	ENST00000360971.2	+	25	2780	c.2760C>T	c.(2758-2760)acC>acT	p.T920T		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	920	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|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)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATTTGCCAACCTTTAGCCAAG	0.363																																					Colon(104;336 1535 5856 11019 33782)											0			6											88	85	86					6																	132211633		2203	4300	6503	132253326	SO:0001819	synonymous_variant	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2760C>T	6.37:g.132211633C>T			132253326	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	CCDS5150.2																																																																																				0.363	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			T	132211633	C	T	132211633	2	4	200	1	0	0	0	0	0	0	0	1	5129	668	24	2		2	ENPP1	6	132211633	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	1449959	132211633	38903434	53	11568											
AKAP12	9590	genome.wustl.edu	37	6	151674542	151674542	+	Silent	SNP	A	A	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr6:151674542A>G	ENST00000253332.1	+	3	5205	c.5016A>G	c.(5014-5016)acA>acG	p.T1672T	AKAP12_ENST00000402676.2_Silent_p.T1672T|AKAP12_ENST00000359755.5_Silent_p.T1567T|AKAP12_ENST00000354675.6_Silent_p.T1574T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1672					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGCTGGAACAAAGTCTGTGC	0.453																																					Melanoma(141;1616 1805 10049 24534 51979)											0			6											89	79	82					6																	151674542		2203	4300	6503	151716235	SO:0001819	synonymous_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.5016A>G	6.37:g.151674542A>G			151716235	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.453	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			G	151674542	A	G	151674542	2	3	200	1	0	0	0	0	0	0	0	1	448	117	5	4		4	AKAP12	6	151674542	Silent	SNP	A	TCGA-23-2645-01A-01W-1091-09	19462909	151674542	19440525	54	11569											
NPSR1	387129	genome.wustl.edu	37	7	34867176	34867176	+	Silent	SNP	G	G	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr7:34867176G>C	ENST00000360581.1	+	5	770	c.642G>C	c.(640-642)gtG>gtC	p.V214V	NPSR1_ENST00000381539.3_Silent_p.V214V|NPSR1_ENST00000531252.1_Silent_p.V203V|NPSR1_ENST00000359791.1_Silent_p.V214V|NPSR1_ENST00000381542.1_Silent_p.V148V	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	214						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGACCATCGTGGCCTTCCTGG	0.582																																																0			7											138	123	128					7																	34867176		2203	4300	6503	34833701	SO:0001819	synonymous_variant	387129			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.642G>C	7.37:g.34867176G>C			34833701	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	CCDS5444.1																																																																																				0.582	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		C	34867176	G	C	34867176	2	2	200	1	0	0	0	0	0	0	0	1	10600	1335	47	3		3	NPSR1	7	34867176	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09		34867176	124271487	55	11570											
ELN	2006	genome.wustl.edu	37	7	73477987	73477987	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr7:73477987T>G	ENST00000252034.7	+	29	2354	c.1955T>G	c.(1954-1956)gTc>gGc	p.V652G	ELN_ENST00000414324.1_Missense_Mutation_p.V628G|ELN_ENST00000320492.7_Missense_Mutation_p.V571G|ELN_ENST00000458204.1_Missense_Mutation_p.V642G|ELN_ENST00000357036.5_Missense_Mutation_p.V657G|ELN_ENST00000445912.1_Missense_Mutation_p.V652G|ELN_ENST00000380584.4_Missense_Mutation_p.V604G|ELN_ENST00000429192.1_Missense_Mutation_p.V638G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.V720G|ELN_ENST00000380553.4_Missense_Mutation_p.V516G|ELN_ENST00000380575.4_Missense_Mutation_p.V623G|ELN_ENST00000380562.4_Missense_Mutation_p.V658G|ELN_ENST00000380576.5_Missense_Mutation_p.V633G|ELN_ENST00000320399.6_Missense_Mutation_p.V685G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGACTCGGAGTCGGAGGGCTT	0.582			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	0			7											158	130	140					7																	73477987		2203	4300	6503	73115923	SO:0001583	missense	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1955T>G	7.37:g.73477987T>G	ENSP00000252034:p.Val652Gly		73115923	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	T	3.223	-0.159023	0.06544	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36520	1.29;1.26;1.38;1.28;1.26;1.27;1.29;1.25;1.26;1.27;1.28;1.28;1.27;1.31	3.04	-3.24	0.05094	.	.	.	.	.	T	0.19167	0.0460	.	.	.	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.32829	0.386;0.386;0.386;0.386;0.386;0.386;0.386;0.386;0.386;0.386;0.386;0.386;0.386	B;B;B;B;B;B;B;B;B;B;B;B;B	0.25140	0.058;0.058;0.058;0.058;0.058;0.058;0.058;0.058;0.058;0.058;0.058;0.058;0.058	T	0.12811	-1.0533	8	0.24483	T	0.36	.	10.722	0.46046	0.0:0.7575:0.0:0.2425	.	652;571;628;642;658;623;638;657;633;516;563;604;652	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	G	652;652;720;571;628;658;623;604;642;657;638;591;516;633;685	ENSP00000389857:V652G;ENSP00000252034:V652G;ENSP00000351807:V720G;ENSP00000315607:V571G;ENSP00000392575:V628G;ENSP00000369936:V658G;ENSP00000369949:V623G;ENSP00000369958:V604G;ENSP00000403162:V642G;ENSP00000349540:V657G;ENSP00000391129:V638G;ENSP00000369926:V516G;ENSP00000369950:V633G;ENSP00000313565:V685G	ENSP00000252034:V652G	V	+	2	0	ELN	73115923	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	-0.836000	0.04382	-0.774000	0.04590	-0.466000	0.05196	GTC		0.582	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		G	73477987	T	G	73477987	3	3	200	1	0	0	0	0	1	0	0	0	5071	1667	58	5	2084	5	ELN	7	73477987	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	38610811	73477987	85660676	56	11571											
PURG	29942	genome.wustl.edu	37	8	30889416	30889416	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr8:30889416G>T	ENST00000475541.1	-	1	1815	c.883C>A	c.(883-885)Cct>Act	p.P295T	PURG_ENST00000339382.2_Intron|WRN_ENST00000298139.5_5'Flank	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	295						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTACGGTAAGGTGGTCTCACC	0.398																																																0			8											55	55	55					8																	30889416		2203	4300	6503	31008958	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.883C>A	8.37:g.30889416G>T	ENSP00000418721:p.Pro295Thr		31008958	Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	G	8.094	0.775234	0.16051	.	.	ENSG00000172733	ENST00000475541	T	0.27890	1.64	5.4	5.4	0.78164	.	.	.	.	.	T	0.38825	0.1055	N	0.25647	0.755	0.47994	D	0.999565	D	0.69078	0.997	D	0.64144	0.922	T	0.05500	-1.0881	9	0.09590	T	0.72	.	18.7746	0.91907	0.0:0.0:1.0:0.0	.	295	Q9UJV8	PURG_HUMAN	T	295	ENSP00000418721:P295T	ENSP00000418721:P295T	P	-	1	0	PURG	31008958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	2.526000	0.85167	0.655000	0.94253	CCT		0.398	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		T	30889416	G	T	30889416	3	4	200	1	0	0	0	0	1	0	0	0	12832	1261	44	3	273	3	PURG	8	30889416	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09		30889416	115474606	57	11572											
MYST3	7994	genome.wustl.edu	37	8	41792211	41792211	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr8:41792211C>G	ENST00000396930.3	-	18	4070	c.3527G>C	c.(3526-3528)aGt>aCt	p.S1176T	KAT6A_ENST00000265713.2_Missense_Mutation_p.S1176T|KAT6A_ENST00000406337.1_Missense_Mutation_p.S1176T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1176					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GATTTCCCGACTCAACTTAAA	0.463																																																0			8											157	155	156					8																	41792211		2203	4300	6503	41911368	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3527G>C	8.37:g.41792211C>G	ENSP00000380136:p.Ser1176Thr		41911368	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	4.458	0.084760	0.08583	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.59224	0.28;0.28;0.28	5.95	0.78	0.18556	.	0.122383	0.56097	D	0.000033	T	0.37320	0.0999	N	0.22421	0.69	0.21256	N	0.999748	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	10	0.52906	T	0.07	-12.8141	6.4556	0.21928	0.0:0.1974:0.1205:0.6822	.	1176	Q92794	KAT6A_HUMAN	T	1176	ENSP00000265713:S1176T;ENSP00000385888:S1176T;ENSP00000380136:S1176T	ENSP00000265713:S1176T	S	-	2	0	KAT6A	41911368	1.000000	0.71417	0.950000	0.38849	0.134000	0.20937	0.827000	0.27421	-0.089000	0.12484	-0.302000	0.09304	AGT		0.463	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		G	41792211	C	G	41792211	3	3	200	1	0	0	0	0	1	0	0	0	10104	565	20	3	2491	3	MYST3	8	41792211	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	10902795	41792211	104571811	58	11573											
SLA	6503	genome.wustl.edu	37	8	134060176	134060176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr8:134060176C>T	ENST00000338087.5	-	6	1070	c.251G>A	c.(250-252)tGg>tAg	p.W84*	TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Nonsense_Mutation_p.W101*|SLA_ENST00000427060.2_Nonsense_Mutation_p.W124*|TG_ENST00000542445.1_Intron|SLA_ENST00000518565.1_5'Flank|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Nonsense_Mutation_p.W101*|SLA_ENST00000524345.1_5'UTR	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	84	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CTCAAACAGCCAGCTGGGAAG	0.567																																																0			8											41	41	41					8																	134060176		2203	4300	6503	134129358	SO:0001587	stop_gained	6503				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.251G>A	8.37:g.134060176C>T	ENSP00000337548:p.Trp84*		134129358	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Nonsense_Mutation	SNP	ENST00000338087.5	37	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060467	0.76074	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119;ENST00000519341	.	.	.	5.6	5.6	0.85130	.	0.052169	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.954	17.4647	0.87629	0.0:1.0:0.0:0.0	.	.	.	.	X	84;124;101;101;84;84	.	ENSP00000337548:W84X	W	-	2	0	SLA	134129358	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.095000	0.76952	2.793000	0.96121	0.563000	0.77884	TGG		0.567	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			T	134060176	C	T	134060176	4	4	200	1	0	0	0	0	0	1	0	0	14366	595	21	2	595	2	SLA	8	134060176	Nonsense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	92267965	134060176	12303846	59	11574											
ZC3H3	23144	genome.wustl.edu	37	8	144621327	144621327	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr8:144621327C>G	ENST00000262577.5	-	2	241	c.210G>C	c.(208-210)tgG>tgC	p.W70C	RP11-661A12.5_ENST00000530600.1_RNA|7SK_ENST00000517300.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	70					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			ATTTCTTGCGCCACGAAGGCC	0.677																																																0			8											71	67	69					8																	144621327		2202	4294	6496	144692470	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.210G>C	8.37:g.144621327C>G	ENSP00000262577:p.Trp70Cys		144692470	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527031	0.64860	.	.	ENSG00000014164	ENST00000262577	T	0.20881	2.04	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000016	T	0.47563	0.1452	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52305	-0.8593	10	0.87932	D	0	.	17.8863	0.88855	0.0:1.0:0.0:0.0	.	70	Q8IXZ2	ZC3H3_HUMAN	C	70	ENSP00000262577:W70C	ENSP00000262577:W70C	W	-	3	0	ZC3H3	144692470	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	5.258000	0.65479	2.217000	0.71921	0.655000	0.94253	TGG		0.677	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		G	144621327	C	G	144621327	3	3	200	1	0	0	0	0	1	0	0	0	17569	740	26	3	2680	3	ZC3H3	8	144621327	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	10561151	144621327	1742695	60	11575											
GRINA	2907	genome.wustl.edu	37	8	145066086	145066086	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr8:145066086C>A	ENST00000313269.5	+	4	811	c.533C>A	c.(532-534)tCc>tAc	p.S178Y	GRINA_ENST00000395068.4_Missense_Mutation_p.S178Y	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	178						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGACCCTGTCCACGGTGTCT	0.572																																																0			8											212	207	209					8																	145066086		2203	4300	6503	145138074	SO:0001583	missense	2907			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.533C>A	8.37:g.145066086C>A	ENSP00000314380:p.Ser178Tyr		145138074	B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251227	0.80135	.	.	ENSG00000178719	ENST00000313269;ENST00000529301;ENST00000395068;ENST00000537637	T;T;T	0.09538	2.97;2.97;2.97	4.7	4.7	0.59300	.	0.131035	0.52532	D	0.000066	T	0.17492	0.0420	L	0.49126	1.545	0.49582	D	0.999801	D	0.55800	0.973	P	0.50537	0.643	T	0.00308	-1.1829	10	0.56958	D	0.05	-47.0539	13.0659	0.59032	0.0:1.0:0.0:0.0	.	178	Q7Z429	GRINA_HUMAN	Y	178;178;178;159	ENSP00000314380:S178Y;ENSP00000432706:S178Y;ENSP00000378507:S178Y	ENSP00000314380:S178Y	S	+	2	0	GRINA	145138074	0.290000	0.24343	0.978000	0.43139	0.991000	0.79684	2.030000	0.41108	2.460000	0.83146	0.650000	0.86243	TCC		0.572	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		A	145066086	C	A	145066086	3	1	200	1	0	0	0	0	1	0	0	0	6785	855	30	3	543	3	GRINA	8	145066086	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	444759	145066086	1297936	61	11576											
SHARPIN	81858	genome.wustl.edu	37	8	145154282	145154282	+	Missense_Mutation	SNP	G	G	A	rs77359862	byFrequency	TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr8:145154282G>A	ENST00000398712.2	-	6	1256	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	274	Interaction with SHANK1. {ECO:0000250}.|Ubiquitin-like.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACAGGCACCGTCCGATGACC	0.632													G|||	45	0.00898562	0	0.0014	5008	,	,		20405	0.0397		0.001	False		,,,				2504	0.0031															0			8						G	TRP/ARG	1,4315		0,1,2157	52	62	58		820	-0.9	0	8	dbSNP_132	58	1,8515		0,1,4257	yes	missense	SHARPIN	NM_030974.3	101	0,2,6414	AA,AG,GG		0.0117,0.0232,0.0156	probably-damaging	274/388	145154282	2,12830	2158	4258	6416	145226270	SO:0001583	missense	81858			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.820C>T	8.37:g.145154282G>A	ENSP00000381698:p.Arg274Trp		145226270	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	ENST00000398712.2	37	CCDS43777.1	16	0.007326007326007326	0	0.0	0	0.0	15	0.026223776223776224	1	0.0013192612137203166	G	16.22	3.062349	0.55432	2.32E-4	1.17E-4	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.43688	0.94;0.94	4.63	-0.917	0.10485	.	0.445596	0.24748	N	0.035935	T	0.09642	0.0237	L	0.44542	1.39	0.09310	N	1	D	0.56287	0.975	B	0.36666	0.23	T	0.15838	-1.0423	10	0.87932	D	0	.	7.4785	0.27391	0.0:0.2735:0.2763:0.4502	.	274	Q9H0F6	SHRPN_HUMAN	W	274	ENSP00000381698:R274W;ENSP00000352551:R274W	ENSP00000352551:R274W	R	-	1	2	SHARPIN	145226270	1.000000	0.71417	0.001000	0.08648	0.601000	0.36947	2.614000	0.46359	-0.398000	0.07679	0.555000	0.69702	CGG		0.632	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		A	145154282	G	A	145154282	3	1	200	1	0	0	0	0	1	0	0	0	14270	1144	40	1	355	1	SHARPIN	8	145154282	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	88196	145154282	1209740	62	11577											
PLAA	9373	genome.wustl.edu	37	9	26919332	26919332	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr9:26919332G>A	ENST00000397292.3	-	9	1810	c.1393C>T	c.(1393-1395)Ccc>Tcc	p.P465S	PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.P465S	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	465	PFU. {ECO:0000255|PROSITE- ProRule:PRU00727}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GAAAAGCTGGGATTCCCAAGT	0.313																																					Melanoma(175;2670 2735 14091 35526)											0			9											90	89	89					9																	26919332		2203	4300	6503	26909332	SO:0001583	missense	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1393C>T	9.37:g.26919332G>A	ENSP00000380460:p.Pro465Ser		26909332	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.855|4.855	0.158861|0.158861	0.09236|0.09236	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.54675|.	0.56;0.67|.	5.33|5.33	1.64|1.64	0.23874|0.23874	PLAA family ubiquitin binding, PFU (1);|.	0.272631|.	0.42964|.	D|.	0.000627|.	T|T	0.17195|0.17195	0.0413|0.0413	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.22068|0.22068	-1.0227|-1.0227	10|5	0.05436|.	T|.	0.98|.	-0.1483|-0.1483	2.1663|2.1663	0.03838|0.03838	0.2314:0.0714:0.2901:0.4071|0.2314:0.0714:0.2901:0.4071	.|.	465;465|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	S|F	465|137;14	ENSP00000380460:P465S;ENSP00000429372:P465S|.	ENSP00000380460:P465S|.	P|S	-|-	1|2	0|0	PLAA|PLAA	26909332|26909332	0.009000|0.009000	0.17119|0.17119	0.326000|0.326000	0.25389|0.25389	0.922000|0.922000	0.55478|0.55478	-0.017000|-0.017000	0.12590|0.12590	0.019000|0.019000	0.15079|0.15079	-0.293000|-0.293000	0.09583|0.09583	CCC|TCC		0.313	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		A	26919332	G	A	26919332	3	1	200	1	0	0	0	0	1	0	0	0	12011	1174	41	2	1018	2	PLAA	9	26919332	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09		26919332	114294099	63	11578											
ODF2	4957	genome.wustl.edu	37	9	131243889	131243889	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr9:131243889G>T	ENST00000434106.3	+	9	1237	c.874G>T	c.(874-876)Gca>Tca	p.A292S	ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000448249.3_Missense_Mutation_p.A211S|ODF2_ENST00000372814.3_Missense_Mutation_p.A336S|ODF2_ENST00000393527.3_Missense_Mutation_p.A268S|ODF2_ENST00000546203.1_Missense_Mutation_p.A273S|ODF2_ENST00000444119.2_Missense_Mutation_p.A268S|ODF2_ENST00000372807.5_Missense_Mutation_p.A287S|ODF2_ENST00000351030.3_Missense_Mutation_p.A287S|ODF2_ENST00000604420.1_Missense_Mutation_p.A292S|ODF2_ENST00000372791.3_Missense_Mutation_p.A273S|ODF2_ENST00000393533.2_Missense_Mutation_p.A292S	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	292					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCAACAAGGAGCACTGCTGAA	0.463																																																0			9											97	92	94					9																	131243889		2203	4300	6503	130283710	SO:0001583	missense	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.874G>T	9.37:g.131243889G>T	ENSP00000403453:p.Ala292Ser		130283710	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604132	0.28534	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;1.93;0.92;0.92;0.92	5.74	-1.96	0.07525	.	0.753119	0.13555	N	0.379208	T	0.22205	0.0535	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B	0.28055	0.034;0.191;0.137;0.098;0.199;0.089;0.023;0.034;0.089;0.191	B;B;B;B;B;B;B;B;B;B	0.29862	0.036;0.075;0.058;0.079;0.075;0.075;0.032;0.036;0.075;0.108	T	0.28933	-1.0028	10	0.10902	T	0.67	0.2133	12.2075	0.54361	0.5428:0.0:0.4571:0.0	.	273;287;211;226;292;336;287;273;292;268	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	S	292;336;287;292;268;211;273;273	ENSP00000377166:A292S;ENSP00000361901:A336S;ENSP00000342581:A287S;ENSP00000361882:A292S;ENSP00000307781:A268S;ENSP00000396687:A211S;ENSP00000437579:A273S;ENSP00000361877:A273S	ENSP00000307781:A268S	A	+	1	0	ODF2	130283710	0.004000	0.15560	0.063000	0.19743	0.671000	0.39405	-0.317000	0.08060	-0.234000	0.09782	0.655000	0.94253	GCA		0.463	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			T	131243889	G	T	131243889	3	4	200	1	0	0	0	0	1	0	0	0	10827	971	34	3	959	3	ODF2	9	131243889	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	104324557	131243889	9969542	64	11579											
FAM188A	80013	genome.wustl.edu	37	10	15838108	15838108	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:15838108C>T	ENST00000277632.3	-	11	1166	c.946G>A	c.(946-948)Gac>Aac	p.D316N	FAM188A_ENST00000378036.1_Missense_Mutation_p.D21N|FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	316					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCTTCTGGGTCGTAGGTTTGA	0.363																																					Pancreas(159;946 1953 2111 4475 22008)											0			10											136	145	142					10																	15838108		2203	4300	6503	15878114	SO:0001583	missense	80013			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"caspase recruitment domain containing pro-apoptotic protein", "CARD-containing protein"	611649	"chromosome 10 open reading frame 97"	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.946G>A	10.37:g.15838108C>T	ENSP00000277632:p.Asp316Asn		15878114	Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	C	36	5.676218	0.96764	.	.	ENSG00000148481	ENST00000277632;ENST00000378036;ENST00000378033;ENST00000418767	T;T	0.59224	0.47;0.28	6.08	6.08	0.98989	EF-hand-like domain (1);	0.042232	0.85682	D	0.000000	T	0.64338	0.2589	M	0.84219	2.685	0.80722	D	1	B	0.27971	0.196	B	0.23852	0.049	T	0.64433	-0.6409	10	0.62326	D	0.03	-13.4342	18.8526	0.92238	0.0:1.0:0.0:0.0	.	316	Q9H8M7	F188A_HUMAN	N	316;21;21;156	ENSP00000277632:D316N;ENSP00000388661:D156N	ENSP00000277632:D316N	D	-	1	0	FAM188A	15878114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.965000	0.76067	2.894000	0.99253	0.591000	0.81541	GAC		0.363	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		T	15838108	C	T	15838108	3	4	200	1	0	0	0	0	1	0	0	0	5514	884	31	1	411	1	FAM188A	10	15838108	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09		15838108	119696639	65	11580											
OGDHL	55753	genome.wustl.edu	37	10	50952143	50952143	+	Silent	SNP	G	G	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:50952143G>C	ENST00000374103.4	-	14	1843	c.1758C>G	c.(1756-1758)ccC>ccG	p.P586P	OGDHL_ENST00000432695.1_Silent_p.P377P|OGDHL_ENST00000419399.1_Silent_p.P529P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	586					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.P586P(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCATGCTCTTGGGCTCCCCAT	0.607																																																1	Substitution - coding silent(1)	large_intestine(1)	10											106	86	93					10																	50952143		2203	4300	6503	50622149	SO:0001819	synonymous_variant	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1758C>G	10.37:g.50952143G>C			50622149	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	CCDS7234.1																																																																																				0.607	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		C	50952143	G	C	50952143	2	2	200	1	0	0	0	0	0	0	0	1	10840	1335	47	3		3	OGDHL	10	50952143	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09	35114035	50952143	84582604	66	11581											
ANK3	288	genome.wustl.edu	37	10	61932746	61932746	+	Missense_Mutation	SNP	G	G	A	rs201704543		TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:61932746G>A	ENST00000280772.2	-	20	2485	c.2294C>T	c.(2293-2295)aCg>aTg	p.T765M	ANK3_ENST00000373827.2_Missense_Mutation_p.T759M|ANK3_ENST00000503366.1_Missense_Mutation_p.T748M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	765					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGTAATGGCGTATACCCATT	0.418													G|||	1	0.000199681	0	0	5008	,	,		15865	0.001		0	False		,,,				2504	0															0			10											148	134	139					10																	61932746		2203	4300	6503	61602752	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2294C>T	10.37:g.61932746G>A	ENSP00000280772:p.Thr765Met		61602752	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.86	3.712666	0.68730	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	D;D;D	0.85556	-2.0;-2.0;-2.0	6.06	6.06	0.98353	Ankyrin repeat-containing domain (3);	0.000000	0.43416	D	0.000573	D	0.95462	0.8526	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;0.997;1.0;0.996;0.999	D	0.95920	0.8930	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	748;426;309;759;765	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	M	765;759;748;727;426;421;309	ENSP00000280772:T765M;ENSP00000362933:T759M;ENSP00000425236:T748M	ENSP00000280772:T765M	T	-	2	0	ANK3	61602752	1.000000	0.71417	0.680000	0.29994	0.260000	0.26232	9.799000	0.99117	2.882000	0.98803	0.655000	0.94253	ACG		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		A	61932746	G	A	61932746	3	1	200	1	0	0	0	0	1	0	0	0	622	1145	40	1	11268	1	ANK3	10	61932746	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	10980603	61932746	73602001	67	11582											
VCL	7414	genome.wustl.edu	37	10	75849851	75849851	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:75849851G>A	ENST00000211998.4	+	10	1341	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R416Q|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	416	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCTGAAGCTCGGAAAATAGCA	0.448																																																0			10											186	176	179					10																	75849851		2203	4300	6503	75519857	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1247G>A	10.37:g.75849851G>A	ENSP00000211998:p.Arg416Gln		75519857	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239577	0.58995	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.76060	-0.99;-0.99;1.15	5.54	5.54	0.83059	.	0.068337	0.64402	D	0.000009	T	0.69342	0.3100	L	0.60845	1.875	0.80722	D	1	P;B;P	0.41159	0.618;0.198;0.74	B;B;B	0.37047	0.052;0.022;0.24	T	0.72316	-0.4330	10	0.49607	T	0.09	.	12.8268	0.57725	0.0743:0.0:0.9257:0.0	.	343;416;416	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	Q	416;416;323;343;88	ENSP00000361841:R416Q;ENSP00000211998:R416Q;ENSP00000415489:R88Q	ENSP00000211998:R416Q	R	+	2	0	VCL	75519857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.549000	0.53681	2.626000	0.88956	0.585000	0.79938	CGG		0.448	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		A	75849851	G	A	75849851	3	1	200	1	0	0	0	0	1	0	0	0	17139	1116	39	1	1285	1	VCL	10	75849851	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	13917105	75849851	59684896	68	11583											
NRG3	10718	genome.wustl.edu	37	10	84738869	84738869	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:84738869T>G	ENST00000404547.1	+	8	1576	c.1576T>G	c.(1576-1578)Tgc>Ggc	p.C526G	NRG3_ENST00000372142.2_Missense_Mutation_p.C305G|NRG3_ENST00000556918.1_Missense_Mutation_p.C356G|NRG3_ENST00000537893.1_Missense_Mutation_p.C176G|NRG3_ENST00000372141.2_Missense_Mutation_p.C526G|NRG3_ENST00000545131.1_Missense_Mutation_p.C176G|NRG3_ENST00000404576.2_Missense_Mutation_p.C330G			P56975	NRG3_HUMAN	neuregulin 3	526					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TACGATACCTTGCCAAGGGTA	0.458																																																0			10											86	72	77					10																	84738869		2203	4300	6503	84728849	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1576T>G	10.37:g.84738869T>G	ENSP00000384796:p.Cys526Gly		84728849	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.153032	0.57259	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.53640	1.13;0.61;0.65;0.64;0.64;0.64;0.64	5.83	3.47	0.39725	.	0.167671	0.52532	D	0.000075	T	0.57242	0.2040	L	0.50333	1.59	0.44762	D	0.997762	B;D;B;D	0.76494	0.095;0.991;0.004;0.999	B;P;B;D	0.72338	0.034;0.86;0.004;0.977	T	0.55302	-0.8162	10	0.66056	D	0.02	-58.3163	6.9968	0.24786	0.0:0.0782:0.1504:0.7714	.	525;526;305;526	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	G	526;526;525;305;330;356;176;176	ENSP00000361214:C526G;ENSP00000384796:C526G;ENSP00000361215:C305G;ENSP00000385804:C330G;ENSP00000451376:C356G;ENSP00000441201:C176G;ENSP00000440377:C176G	ENSP00000361214:C526G	C	+	1	0	NRG3	84728849	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.148000	0.31614	0.458000	0.26988	0.460000	0.39030	TGC		0.458	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		G	84738869	T	G	84738869	3	3	200	1	0	0	0	0	1	0	0	0	10649	1812	63	5	1774	5	NRG3	10	84738869	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	8889018	84738869	50795878	69	11584											
HPSE2	60495	genome.wustl.edu	37	10	100374701	100374701	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:100374701C>A	ENST00000370552.3	-	9	1339	c.1280G>T	c.(1279-1281)gGa>gTa	p.G427V	HPSE2_ENST00000404542.1_Missense_Mutation_p.G315V|HPSE2_ENST00000370549.1_Missense_Mutation_p.G369V|HPSE2_ENST00000370546.1_Missense_Mutation_p.G427V	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	427					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GTGATTGTATCCATGGTCAAA	0.413																																																0			10											199	170	180					10																	100374701		2203	4300	6503	100364691	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1280G>T	10.37:g.100374701C>A	ENSP00000359583:p.Gly427Val		100364691	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747476	0.89663	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.87	5.87	0.94306	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.115026	0.64402	D	0.000018	T	0.60932	0.2307	M	0.83223	2.63	0.80722	D	1	D;D;D;P	0.89917	1.0;0.96;0.992;0.926	D;P;P;P	0.91635	0.999;0.56;0.77;0.454	T	0.56805	-0.7918	10	0.36615	T	0.2	-4.8014	19.3531	0.94398	0.0:1.0:0.0:0.0	.	315;427;369;427	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	V	427;369;427;315	ENSP00000359583:G427V;ENSP00000359580:G369V;ENSP00000359577:G427V;ENSP00000384384:G315V	ENSP00000359577:G427V	G	-	2	0	HPSE2	100364691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.883000	0.75595	2.941000	0.99782	0.655000	0.94253	GGA		0.413	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		A	100374701	C	A	100374701	3	1	200	1	0	0	0	0	1	0	0	0	7345	855	30	3	552	3	HPSE2	10	100374701	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	15635832	100374701	35160046	70	11585											
C10orf26	54838	genome.wustl.edu	37	10	104572399	104572399	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:104572399C>G	ENST00000369889.4	+	4	482	c.340C>G	c.(340-342)Cga>Gga	p.R114G	WBP1L_ENST00000448841.1_Missense_Mutation_p.R135G	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	114	Pro-rich.					integral component of membrane (GO:0016021)											AGTGGTGAACCGACCTCCAAC	0.542																																																0			10											131	131	131					10																	104572399		2203	4300	6503	104562389	SO:0001583	missense	54838			AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"outcome predictor in acute leukemia 1"	611129	"chromosome 10 open reading frame 26"	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.340C>G	10.37:g.104572399C>G	ENSP00000358905:p.Arg114Gly		104562389	B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Missense_Mutation	SNP	ENST00000369889.4	37	CCDS7540.1	.	.	.	.	.	.	.	.	.	.	c	18.00	3.524481	0.64747	.	.	ENSG00000166272	ENST00000448841;ENST00000369889	T;T	0.20738	2.05;2.05	6.05	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	L	0.42245	1.32	0.58432	D	0.999992	D;D	0.63046	0.992;0.965	P;P	0.60236	0.871;0.87	T	0.12528	-1.0544	10	0.87932	D	0	-7.2858	15.6545	0.77124	0.2494:0.7506:0.0:0.0	.	135;114	Q9NX94-2;Q9NX94	.;OPA1L_HUMAN	G	135;114	ENSP00000414721:R135G;ENSP00000358905:R114G	ENSP00000358905:R114G	R	+	1	2	C10orf26	104562389	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.419000	0.52728	1.548000	0.49413	0.651000	0.88453	CGA		0.542	WBP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050100.1	NM_017787		G	104572399	C	G	104572399	3	3	200	1	0	0	0	0	1	0	0	0	1599	644	23	3	448	3	C10orf26	10	104572399	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	4197698	104572399	30962348	71	11586											
SLK	9748	genome.wustl.edu	37	10	105759043	105759043	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:105759043C>T	ENST00000369755.3	+	6	1299	c.754C>T	c.(754-756)Cca>Tca	p.P252S	SLK_ENST00000335753.4_Missense_Mutation_p.P252S	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAATCTGAGCCACCTACATT	0.358																																					NSCLC(111;540 1651 1927 4474 17706)											0			10											61	61	61					10																	105759043		2203	4299	6502	105749033	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.754C>T	10.37:g.105759043C>T	ENSP00000358770:p.Pro252Ser		105749033	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029194	0.93518	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.25085	1.82;1.82	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	0.47248	0.1435	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.31752	-0.9932	10	0.66056	D	0.02	.	20.1935	0.98237	0.0:1.0:0.0:0.0	.	252;252	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	S	252	ENSP00000336824:P252S;ENSP00000358770:P252S	ENSP00000336824:P252S	P	+	1	0	SLK	105749033	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	7.776000	0.85560	2.779000	0.95612	0.591000	0.81541	CCA		0.358	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		T	105759043	C	T	105759043	3	4	200	1	0	0	0	0	1	0	0	0	14751	739	26	2	776	2	SLK	10	105759043	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	1186644	105759043	29775704	72	11587											
SORCS1	114815	genome.wustl.edu	37	10	108427489	108427489	+	Nonsense_Mutation	SNP	G	G	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:108427489G>C	ENST00000263054.6	-	17	2268	c.2261C>G	c.(2260-2262)tCa>tGa	p.S754*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.S289*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.S754*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	754					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCAATCCTTTGACAGAGAGGA	0.493																																																0			10											78	69	72					10																	108427489		2203	4300	6503	108417479	SO:0001587	stop_gained	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2261C>G	10.37:g.108427489G>C	ENSP00000263054:p.Ser754*		108417479	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	40	7.922743	0.98563	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.2753	19.7394	0.96219	0.0:0.0:1.0:0.0	.	.	.	.	X	289;754;754	.	.	S	-	2	0	SORCS1	108417479	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	7.543000	0.82106	2.745000	0.94114	0.462000	0.41574	TCA		0.493	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		C	108427489	G	C	108427489	4	2	200	1	0	0	0	0	0	1	0	0	14933	1294	45	3	1519	3	SORCS1	10	108427489	Nonsense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	2668446	108427489	27107258	73	11588											
VWA2	340706	genome.wustl.edu	37	10	116042300	116042300	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:116042300C>A	ENST00000392982.3	+	9	1109	c.859C>A	c.(859-861)Cct>Act	p.P287T	VWA2_ENST00000603594.1_Missense_Mutation_p.P287T			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	287					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCTAACCCACCCTGCCACCTG	0.498																																																0			10											124	119	121					10																	116042300		2203	4300	6503	116032290	SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.859C>A	10.37:g.116042300C>A	ENSP00000376708:p.Pro287Thr		116032290	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	C	13.82	2.350510	0.41599	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.66815	-0.23	5.66	4.74	0.60224	.	0.130474	0.53938	D	0.000049	T	0.78175	0.4242	M	0.74881	2.28	0.32018	N	0.601161	D;D	0.76494	0.999;0.999	D;D	0.69479	0.922;0.964	T	0.78853	-0.2040	10	0.16896	T	0.51	.	13.6688	0.62412	0.0:0.8448:0.1552:0.0	.	287;287	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	T	287	ENSP00000376708:P287T	ENSP00000298715:P287T	P	+	1	0	VWA2	116032290	0.996000	0.38824	0.441000	0.26858	0.056000	0.15407	3.435000	0.52849	1.348000	0.45733	0.557000	0.71058	CCT		0.498	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		A	116042300	C	A	116042300	3	1	200	1	0	0	0	0	1	0	0	0	17239	623	22	3	889	3	VWA2	10	116042300	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	7614811	116042300	19492447	74	11589											
WDR11	55717	genome.wustl.edu	37	10	122664840	122664840	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:122664840A>G	ENST00000263461.6	+	26	3449	c.3203A>G	c.(3202-3204)cAg>cGg	p.Q1068R	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.Q1068R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GAGGGCGTTCAGTTGCTCTGC	0.498																																																1	Substitution - Missense(1)	large_intestine(1)	10											90	84	86					10																	122664840		2203	4300	6503	122654830	SO:0001583	missense	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3203A>G	10.37:g.122664840A>G	ENSP00000263461:p.Gln1068Arg		122654830	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524679	0.64747	.	.	ENSG00000120008	ENST00000263461	D	0.92397	-3.03	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95736	0.8613	M	0.76574	2.34	0.80722	D	1	D;D;D;P	0.89917	0.987;0.987;1.0;0.956	D;D;D;B	0.74348	0.953;0.953;0.983;0.444	D	0.96035	0.9020	10	0.72032	D	0.01	-19.149	16.3756	0.83387	1.0:0.0:0.0:0.0	.	1068;1068;359;597	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	R	1068	ENSP00000263461:Q1068R	ENSP00000263461:Q1068R	Q	+	2	0	WDR11	122654830	1.000000	0.71417	0.970000	0.41538	0.052000	0.14988	8.873000	0.92357	2.270000	0.75569	0.460000	0.39030	CAG		0.498	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			G	122664840	A	G	122664840	3	3	200	1	0	0	0	0	1	0	0	0	17273	188	7	4	3305	4	WDR11	10	122664840	Missense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09	6622540	122664840	12869907	75	11590											
VENTX	27287	genome.wustl.edu	37	10	135053310	135053310	+	Silent	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr10:135053310G>A	ENST00000325980.9	+	2	883	c.372G>A	c.(370-372)ctG>ctA	p.L124L		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	124					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GGAAGAGGCTGGCCAGGGAGA	0.687																																																0			10											23	26	25					10																	135053310		2201	4298	6499	134903300	SO:0001819	synonymous_variant	27287			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.372G>A	10.37:g.135053310G>A			134903300	Q32MZ3	Silent	SNP	ENST00000325980.9	37	CCDS7675.1																																																																																				0.687	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		A	135053310	G	A	135053310	2	1	200	1	0	0	0	0	0	0	0	1	17153	1335	47	2		2	VENTX	10	135053310	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09	12388470	135053310	481437	76	11591											
DCDC1	341019	genome.wustl.edu	37	11	31349758	31349758	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr11:31349758C>G	ENST00000452803.1	-	3	271	c.70G>C	c.(70-72)Gca>Cca	p.A24P	DCDC1_ENST00000597505.1_Missense_Mutation_p.A24P	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	24					intracellular signal transduction (GO:0035556)			p.A24T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACTTCCATTGCTTCAGTCAAG	0.358																																																1	Substitution - Missense(1)	large_intestine(1)	11											110	102	104					11																	31349758		2202	4299	6501	31306334	SO:0001583	missense	341019			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.70G>C	11.37:g.31349758C>G	ENSP00000389792:p.Ala24Pro		31306334	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	c	11.86	1.764790	0.31228	.	.	ENSG00000188682	ENST00000452803	T	0.47869	0.83	4.84	-7.48	0.01360	.	2.126880	0.02108	N	0.054570	T	0.28067	0.0692	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13575	-1.0504	10	0.62326	D	0.03	.	2.3607	0.04307	0.1004:0.3393:0.1981:0.3622	.	24	P59894	DCDC1_HUMAN	P	24	ENSP00000389792:A24P	ENSP00000343496:A24P	A	-	1	0	DCDC1	31306334	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.536000	0.06135	-1.760000	0.01312	-1.069000	0.02264	GCA		0.358	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		G	31349758	C	G	31349758	3	3	200	1	0	0	0	0	1	0	0	0	4284	797	28	3	1022	3	DCDC1	11	31349758	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09		31349758	103656758	77	11592											
MRGPRF	116535	genome.wustl.edu	37	11	68773231	68773231	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr11:68773231C>T	ENST00000309099.6	-	3	929	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Missense_Mutation_p.V183M	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	183						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			cccAGGAACACGCAGAAGTAG	0.697																																																0			11											11	13	12					11																	68773231		2025	3999	6024	68529807	SO:0001583	missense	219928			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.547G>A	11.37:g.68773231C>T	ENSP00000309782:p.Val183Met		68529807	B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274721	0.23307	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.71817	-0.6;-0.6	5.14	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.171139	0.27881	N	0.017477	T	0.47801	0.1465	N	0.20685	0.6	0.21627	N	0.999617	P	0.38551	0.636	B	0.32149	0.141	T	0.30707	-0.9969	10	0.30078	T	0.28	-17.7922	7.452	0.27244	0.0:0.7957:0.0:0.2043	.	183	Q96AM1	MRGRF_HUMAN	M	183;183;155	ENSP00000403660:V183M;ENSP00000309782:V183M	ENSP00000309782:V183M	V	-	1	0	MRGPRF	68529807	0.000000	0.05858	0.986000	0.45419	0.548000	0.35241	-0.628000	0.05515	0.545000	0.28902	-0.254000	0.11334	GTG		0.697	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		T	68773231	C	T	68773231	3	4	200	1	0	0	0	0	1	0	0	0	9765	536	19	1	488	1	MRGPRF	11	68773231	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	37423473	68773231	66233285	78	11593											
BCO2	83875	genome.wustl.edu	37	11	112087005	112087005	+	Silent	SNP	T	T	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr11:112087005T>C	ENST00000357685.5	+	11	1713	c.1578T>C	c.(1576-1578)aaT>aaC	p.N526N	BCO2_ENST00000393032.2_Silent_p.N492N|BCO2_ENST00000526088.1_Silent_p.N486N|BCO2_ENST00000531169.1_Silent_p.N492N|BCO2_ENST00000438022.1_Silent_p.N492N|BCO2_ENST00000532593.1_Silent_p.N421N|BCO2_ENST00000361053.4_Silent_p.N453N			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	526					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CAGGAACCAATGAAGAAGATG	0.418																																					GBM(177;1916 2099 21049 29541 39946)											0			11											167	161	163					11																	112087005		2201	4297	6498	111592215	SO:0001819	synonymous_variant	83875			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1578T>C	11.37:g.112087005T>C			111592215	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Silent	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	T	6.387	0.439425	0.12104	.	.	ENSG00000197580	ENST00000525175	.	.	.	5.58	0.508	0.16972	.	.	.	.	.	.	.	.	.	.	.	0.44685	D	0.997677	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	2.6906	0.05120	0.5036:0.0743:0.13:0.2921	.	.	.	.	R	61	.	.	X	+	1	0	BCO2	111592215	0.001000	0.12720	0.035000	0.18076	0.929000	0.56500	-0.213000	0.09305	0.047000	0.15862	-0.341000	0.08007	TGA		0.418	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		C	112087005	T	C	112087005	2	2	200	1	0	0	0	0	0	0	0	1	1385	1461	51	4		4	BCO2	11	112087005	Silent	SNP	T	TCGA-23-2645-01A-01W-1091-09	43313774	112087005	22919511	79	11594											
MCAM	4162	genome.wustl.edu	37	11	119182329	119182329	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr11:119182329C>A	ENST00000264036.4	-	11	1332	c.1318G>T	c.(1318-1320)Gtg>Ttg	p.V440L	MCAM_ENST00000392814.1_Missense_Mutation_p.V389L	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	440	Ig-like C2-type 3.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TTCACCCACACCTTCCTCTCC	0.617																																																0			11											120	106	111					11																	119182329		2199	4295	6494	118687539	SO:0001583	missense	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1318G>T	11.37:g.119182329C>A	ENSP00000264036:p.Val440Leu		118687539	O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995774	0.35226	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.65549	0.44;-0.16	5.78	-4.37	0.03633	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31104	0.0786	N	0.13327	0.33	0.20403	N	0.999903	B	0.02656	0.0	B	0.06405	0.002	T	0.34576	-0.9823	9	0.02654	T	1	-3.114	4.2218	0.10561	0.1064:0.4672:0.2656:0.1608	.	440	P43121	MUC18_HUMAN	L	440;389	ENSP00000264036:V440L;ENSP00000376561:V389L	ENSP00000264036:V440L	V	-	1	0	MCAM	118687539	0.196000	0.23350	0.576000	0.28549	0.888000	0.51559	-0.600000	0.05693	-0.606000	0.05746	-0.152000	0.13540	GTG		0.617	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			A	119182329	C	A	119182329	3	1	200	1	0	0	0	0	1	0	0	0	9368	507	18	3	646	3	MCAM	11	119182329	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	7095324	119182329	15824187	80	11595											
SLC38A2	54407	genome.wustl.edu	37	12	46758464	46758464	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr12:46758464C>T	ENST00000256689.5	-	9	1112	c.668G>A	c.(667-669)gGc>gAc	p.G223D	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Missense_Mutation_p.G61D	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	223					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CAAGGAAAGGCCACTGGTATA	0.348																																					Ovarian(9;448 492 8335 28722 40361)											0			12											85	98	93					12																	46758464		2202	4299	6501	45044731	SO:0001583	missense	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.668G>A	12.37:g.46758464C>T	ENSP00000256689:p.Gly223Asp		45044731	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346323	0.95807	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02421	4.3;4.3	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.02047	-1.1223	10	0.59425	D	0.04	-10.4963	19.2372	0.93866	0.0:1.0:0.0:0.0	.	61;123;223	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	D	223;61	ENSP00000256689:G223D;ENSP00000450406:G61D	ENSP00000256689:G223D	G	-	2	0	SLC38A2	45044731	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.546000	0.85860	0.460000	0.39030	GGC		0.348	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			T	46758464	C	T	46758464	3	4	200	1	0	0	0	0	1	0	0	0	14607	739	26	2	884	2	SLC38A2	12	46758464	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09		46758464	87093431	81	11596											
DIP2B	57609	genome.wustl.edu	37	12	51092123	51092123	+	Silent	SNP	A	A	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr12:51092123A>T	ENST00000301180.5	+	18	2095	c.2061A>T	c.(2059-2061)ccA>ccT	p.P687P		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	687						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGGAGTTCCAGGAGCCCCTT	0.423																																																0			12											81	82	82					12																	51092123		2203	4300	6503	49378390	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2061A>T	12.37:g.51092123A>T			49378390	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.423	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		T	51092123	A	T	51092123	2	4	200	1	0	0	0	0	0	0	0	1	4528	175	7	5		5	DIP2B	12	51092123	Silent	SNP	A	TCGA-23-2645-01A-01W-1091-09	4333659	51092123	82759772	82	11597											
ERBB3	2065	genome.wustl.edu	37	12	56488250	56488250	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr12:56488250C>T	ENST00000267101.3	+	15	2209	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.P531L|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	590					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGCAGCTGCCCCCATGGAGTC	0.542																																																0			12											102	103	103					12																	56488250		2203	4300	6503	54774517	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1769C>T	12.37:g.56488250C>T	ENSP00000267101:p.Pro590Leu		54774517	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239834	0.95240	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.69040	-0.37;-0.37	5.77	5.77	0.91146	Growth factor, receptor (1);	0.000000	0.64402	D	0.000004	D	0.85375	0.5682	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.87410	0.2375	10	0.87932	D	0	.	18.7534	0.91823	0.0:1.0:0.0:0.0	.	531;590	P21860-4;P21860	.;ERBB3_HUMAN	L	590;531	ENSP00000267101:P590L;ENSP00000408340:P531L	ENSP00000267101:P590L	P	+	2	0	ERBB3	54774517	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	7.392000	0.79840	2.737000	0.93849	0.561000	0.74099	CCC		0.542	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			T	56488250	C	T	56488250	3	4	200	1	0	0	0	0	1	0	0	0	5208	623	22	2	1958	2	ERBB3	12	56488250	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	5396127	56488250	77363645	83	11598											
STAB2	55576	genome.wustl.edu	37	12	104056740	104056740	+	Silent	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr12:104056740C>G	ENST00000388887.2	+	18	2190	c.1986C>G	c.(1984-1986)ccC>ccG	p.P662P		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CGATTCTGCCCCATCGATGTG	0.458																																																0			12											135	131	133					12																	104056740		2203	4300	6503	102580870	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1986C>G	12.37:g.104056740C>G			102580870		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			G	104056740	C	G	104056740	2	3	200	1	0	0	0	0	0	0	0	1	15240	610	22	3		3	STAB2	12	104056740	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	47568490	104056740	29795155	84	11599											
ARPC3	10094	genome.wustl.edu	37	12	110878184	110878184	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr12:110878184G>C	ENST00000228825.7	-	3	262	c.116C>G	c.(115-117)aCa>aGa	p.T39R	RP11-478C19.2_ENST00000550231.1_RNA|ARPC3_ENST00000471641.1_5'Flank	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	39					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			lung(1)|ovary(1)	2						CACAATATCTGTATCTTTTGC	0.338																																																0			12											70	67	68					12																	110878184		2203	4300	6503	109362567	SO:0001583	missense	10094			AF006086	CCDS9146.1	12q24	2011-07-06	2002-08-29		ENSG00000111229	ENSG00000111229		"Actin related protein 2/3 complex subunits"	706	protein-coding gene	gene with protein product		604225	"actin related protein 2/3 complex, subunit 3 (21 kD)"			9230079, 9359840	Standard	NM_001278556		Approved	p21-Arc, ARC21	uc001tqq.3	O15145	OTTHUMG00000134333	ENST00000228825.7:c.116C>G	12.37:g.110878184G>C	ENSP00000228825:p.Thr39Arg		109362567	O00554	Missense_Mutation	SNP	ENST00000228825.7	37	CCDS9146.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802591	0.31869	.	.	ENSG00000111229	ENST00000228825;ENST00000392683;ENST00000426440;ENST00000547365	.	.	.	5.99	5.99	0.97316	.	0.044643	0.85682	D	0.000000	T	0.60064	0.2240	L	0.57536	1.79	0.80722	D	1	B	0.27559	0.181	B	0.25614	0.062	T	0.60352	-0.7280	9	0.87932	D	0	.	14.6024	0.68450	0.069:0.0:0.931:0.0	.	39	O15145	ARPC3_HUMAN	R	39;39;39;31	.	ENSP00000228825:T39R	T	-	2	0	ARPC3	109362567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.175000	0.71949	2.840000	0.97914	0.655000	0.94253	ACA		0.338	ARPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259487.2			C	110878184	G	C	110878184	3	2	200	1	0	0	0	0	1	0	0	0	972	1377	48	3	440	3	ARPC3	12	110878184	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	6821444	110878184	22973711	85	11600											
MED13L	23389	genome.wustl.edu	37	12	116420941	116420941	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr12:116420941A>G	ENST00000281928.3	-	21	5142	c.4936T>C	c.(4936-4938)Tca>Cca	p.S1646P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1646						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCATCCTGTGAGGGCTGAGAA	0.522																																																0			12											90	86	87					12																	116420941		2203	4300	6503	114905324	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4936T>C	12.37:g.116420941A>G	ENSP00000281928:p.Ser1646Pro		114905324	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	A	9.680	1.149112	0.21288	.	.	ENSG00000123066	ENST00000281928	T	0.74002	-0.8	5.93	2.01	0.26516	.	1.436790	0.03877	N	0.276593	T	0.48077	0.1480	N	0.03608	-0.345	0.19300	N	0.999975	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.24483	T	0.36	.	0.6241	0.00783	0.3645:0.2607:0.1298:0.245	.	1646	Q71F56	MD13L_HUMAN	P	1646	ENSP00000281928:S1646P	ENSP00000281928:S1646P	S	-	1	0	MED13L	114905324	0.925000	0.31364	0.782000	0.31804	0.996000	0.88848	0.909000	0.28558	1.056000	0.40484	0.533000	0.62120	TCA		0.522	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			G	116420941	A	G	116420941	3	3	200	1	0	0	0	0	1	0	0	0	9431	304	11	4	1740	4	MED13L	12	116420941	Missense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09	5542757	116420941	17430954	86	11601											
DHX37	57647	genome.wustl.edu	37	12	125457129	125457129	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr12:125457129T>C	ENST00000308736.2	-	7	1095	c.997A>G	c.(997-999)Atc>Gtc	p.I333V	DHX37_ENST00000544745.1_Missense_Mutation_p.I120V	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	333	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCATACCGGATCTGGTAGGAG	0.572																																																0			12											207	182	191					12																	125457129		2203	4300	6503	124023082	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.997A>G	12.37:g.125457129T>C	ENSP00000311135:p.Ile333Val		124023082	Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392778	0.83011	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.12361	2.69;2.69	4.58	4.58	0.56647	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	L	0.31526	0.94	0.80722	D	1	P	0.37708	0.606	P	0.50860	0.652	T	0.03259	-1.1055	10	0.62326	D	0.03	-18.1983	13.637	0.62227	0.0:0.0:0.0:1.0	.	333	Q8IY37	DHX37_HUMAN	V	333;120	ENSP00000311135:I333V;ENSP00000439009:I120V	ENSP00000311135:I333V	I	-	1	0	DHX37	124023082	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.559000	0.82265	1.698000	0.51180	0.459000	0.35465	ATC		0.572	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		C	125457129	T	C	125457129	3	2	200	1	0	0	0	0	1	0	0	0	4510	1435	50	4	2560	4	DHX37	12	125457129	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	9036188	125457129	8394766	87	11602											
AACS	65985	genome.wustl.edu	37	12	125621263	125621263	+	Silent	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr12:125621263C>T	ENST00000316519.6	+	17	1940	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	AACS_ENST00000545511.1_Intron|AACS_ENST00000316543.10_Silent_p.Y176Y|AACS_ENST00000398953.2_3'UTR|AACS_ENST00000261686.6_Intron|AACS_ENST00000543665.1_Intron	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	578					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATAACAAGTACAGGGAGGAGA	0.592																																																0			12											113	93	100					12																	125621263		2203	4300	6503	124187216	SO:0001819	synonymous_variant	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1734C>T	12.37:g.125621263C>T			124187216	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	CCDS9263.1																																																																																				0.592	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		T	125621263	C	T	125621263	2	4	200	1	0	0	0	0	0	0	0	1	9	489	17	2		2	AACS	12	125621263	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	164134	125621263	8230632	88	11603											
MIPEP	4285	genome.wustl.edu	37	13	24443441	24443441	+	Silent	SNP	A	A	G	rs36114598		TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr13:24443441A>G	ENST00000382172.3	-	7	1031	c.933T>C	c.(931-933)gcT>gcC	p.A311A		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	311					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTGGATTTTTAGCTATCGTTC	0.368																																																0			13											112	117	115					13																	24443441		2203	4300	6503	23341441	SO:0001819	synonymous_variant	4285				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.933T>C	13.37:g.24443441A>G			23341441	Q5JV15|Q5T9Q9|Q96G65	Silent	SNP	ENST00000382172.3	37	CCDS9303.1																																																																																				0.368	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			G	24443441	A	G	24443441	2	3	200	1	0	0	0	0	0	0	0	1	9592	407	15	4		4	MIPEP	13	24443441	Silent	SNP	A	TCGA-23-2645-01A-01W-1091-09		24443441	90726437	89	11604											
FAM124A	220108	genome.wustl.edu	37	13	51826045	51826045	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr13:51826045A>G	ENST00000322475.8	+	3	677	c.542A>G	c.(541-543)gAc>gGc	p.D181G	FAM124A_ENST00000280057.6_Missense_Mutation_p.D217G	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	181			D -> H (in dbSNP:rs17075482).							breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TGTCGCTACGACAACTATGCT	0.577																																																0			13											46	45	46					13																	51826045		2203	4300	6503	50724046	SO:0001583	missense	220108			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.542A>G	13.37:g.51826045A>G	ENSP00000324625:p.Asp181Gly		50724046	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.549167	0.27652	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.51817	0.69;0.69	5.79	4.61	0.57282	.	0.403648	0.27866	N	0.017528	T	0.42899	0.1223	M	0.67397	2.05	0.31458	N	0.669862	P;P;B	0.38078	0.617;0.617;0.082	B;B;B	0.30855	0.121;0.121;0.058	T	0.56836	-0.7913	10	0.72032	D	0.01	-39.3577	11.0341	0.47791	0.9275:0.0:0.0725:0.0	.	181;217;181	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	G	181;217	ENSP00000324625:D181G;ENSP00000280057:D217G	ENSP00000280057:D217G	D	+	2	0	FAM124A	50724046	1.000000	0.71417	0.836000	0.33094	0.010000	0.07245	7.174000	0.77620	1.022000	0.39626	-0.256000	0.11100	GAC		0.577	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		G	51826045	A	G	51826045	3	3	200	1	0	0	0	0	1	0	0	0	5425	275	10	4	664	4	FAM124A	13	51826045	Missense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09	27382604	51826045	63343833	90	11605											
SLITRK1	114798	genome.wustl.edu	37	13	84455225	84455225	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr13:84455225T>C	ENST00000377084.2	-	1	1303	c.418A>G	c.(418-420)Aat>Gat	p.N140D		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	140					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CGTAATAAATTAAAATCAGCC	0.458																																																0			13											59	64	62					13																	84455225		2203	4300	6503	83353226	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.418A>G	13.37:g.84455225T>C	ENSP00000366288:p.Asn140Asp		83353226	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250144	0.59212	.	.	ENSG00000178235	ENST00000377084	T	0.74526	-0.85	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	H	0.96430	3.82	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.92466	0.5981	10	0.87932	D	0	-8.8436	12.6952	0.56999	0.0:0.0:0.0:1.0	.	140	Q96PX8	SLIK1_HUMAN	D	140	ENSP00000366288:N140D	ENSP00000366288:N140D	N	-	1	0	SLITRK1	83353226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.868000	0.87116	1.874000	0.54306	0.459000	0.35465	AAT		0.458	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		C	84455225	T	C	84455225	3	2	200	1	0	0	0	0	1	0	0	0	14745	1754	61	4	1676	4	SLITRK1	13	84455225	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	32629180	84455225	30714653	91	11606											
ADCY4	196883	genome.wustl.edu	37	14	24788554	24788554	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr14:24788554G>C	ENST00000310677.4	-	23	2935	c.2822C>G	c.(2821-2823)tCt>tGt	p.S941C	ADCY4_ENST00000554068.2_Missense_Mutation_p.S941C|ADCY4_ENST00000418030.2_Missense_Mutation_p.S941C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	941					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATCCTGTCCAGAGGTGGCATT	0.527																																																0			14											210	161	177					14																	24788554		2203	4300	6503	23858394	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2822C>G	14.37:g.24788554G>C	ENSP00000312126:p.Ser941Cys		23858394	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765071	0.69878	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.30448	1.53;1.53;1.53	5.77	5.77	0.91146	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.143876	0.32640	N	0.005827	T	0.27765	0.0683	N	0.17872	0.535	0.80722	D	1	B	0.31435	0.323	B	0.36959	0.237	T	0.08848	-1.0702	10	0.59425	D	0.04	.	17.4827	0.87677	0.0:0.0:1.0:0.0	.	941	Q8NFM4	ADCY4_HUMAN	C	941	ENSP00000312126:S941C;ENSP00000452250:S941C;ENSP00000393177:S941C	ENSP00000312126:S941C	S	-	2	0	ADCY4	23858394	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.705000	0.74644	2.704000	0.92352	0.655000	0.94253	TCT		0.527	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			C	24788554	G	C	24788554	3	2	200	1	0	0	0	0	1	0	0	0	296	942	33	3	427	3	ADCY4	14	24788554	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09		24788554	82560986	92	11607											
VASH1	22846	genome.wustl.edu	37	14	77237584	77237584	+	Silent	SNP	G	G	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr14:77237584G>C	ENST00000167106.4	+	3	1083	c.450G>C	c.(448-450)ctG>ctC	p.L150L	VASH1_ENST00000556038.1_3'UTR|VASH1_ENST00000554237.1_Silent_p.L150L	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	150					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GCAGACCTCTGACAGGGTAAG	0.532																																																0			14											98	88	91					14																	77237584		2203	4300	6503	76307337	SO:0001819	synonymous_variant	22846			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"KIAA1036"	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.450G>C	14.37:g.77237584G>C			76307337	Q96H02|Q9UBF4|Q9Y629	Silent	SNP	ENST00000167106.4	37	CCDS9851.1																																																																																				0.532	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		C	77237584	G	C	77237584	2	2	200	1	0	0	0	0	0	0	0	1	17125	1277	45	3		3	VASH1	14	77237584	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09	52449030	77237584	30111956	93	11608											
KCNK10	54207	genome.wustl.edu	37	14	88654418	88654418	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr14:88654418T>G	ENST00000340700.5	-	6	1340	c.889A>C	c.(889-891)Aag>Cag	p.K297Q	KCNK10_ENST00000319231.5_Missense_Mutation_p.K302Q|KCNK10_ENST00000312350.5_Missense_Mutation_p.K302Q	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	297					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ACTAGGGGCTTATACCACTCC	0.443																																																0			14											159	154	156					14																	88654418		2203	4300	6503	87724171	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.889A>C	14.37:g.88654418T>G	ENSP00000343104:p.Lys297Gln		87724171	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263719	0.80358	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.36699	1.24;1.24;1.24	5.52	5.52	0.82312	Ion transport 2 (1);	0.043589	0.85682	D	0.000000	T	0.50718	0.1632	L	0.42686	1.345	0.80722	D	1	D;D;B	0.76494	0.996;0.999;0.232	D;D;B	0.70487	0.969;0.969;0.224	T	0.41680	-0.9495	10	0.34782	T	0.22	.	15.1125	0.72368	0.0:0.0:0.0:1.0	.	297;302;302	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	Q	297;302;302	ENSP00000343104:K297Q;ENSP00000310568:K302Q;ENSP00000312811:K302Q	ENSP00000310568:K302Q	K	-	1	0	KCNK10	87724171	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.972000	0.88022	2.225000	0.72522	0.459000	0.35465	AAG		0.443	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		G	88654418	T	G	88654418	3	3	200	1	0	0	0	0	1	0	0	0	8059	1763	61	5	735	5	KCNK10	14	88654418	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	11416834	88654418	18695122	94	11609											
DYNC1H1	1778	genome.wustl.edu	37	14	102449375	102449375	+	Silent	SNP	A	A	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr14:102449375A>G	ENST00000360184.4	+	6	1145	c.981A>G	c.(979-981)gaA>gaG	p.E327E		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	327	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGCTTTGGAAACTGTGAATG	0.363																																																0			14											64	73	70					14																	102449375		2200	4297	6497	101519128	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.981A>G	14.37:g.102449375A>G			101519128	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.363	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102449375	A	G	102449375	2	3	200	1	0	0	0	0	0	0	0	1	4841	11	1	4		4	DYNC1H1	14	102449375	Silent	SNP	A	TCGA-23-2645-01A-01W-1091-09	13794957	102449375	4900165	95	11610											
MCTP2	55784	genome.wustl.edu	37	15	94899394	94899394	+	Missense_Mutation	SNP	C	C	T	rs564883944		TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr15:94899394C>T	ENST00000357742.4	+	8	1034	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.S345F|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.S345F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	345	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTACGGCTCTCTGAGTCCTTG	0.393																																																0			15											135	138	137					15																	94899394		2197	4298	6495	92700398	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1034C>T	15.37:g.94899394C>T	ENSP00000350377:p.Ser345Phe		92700398	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754464	0.69648	.	.	ENSG00000140563	ENST00000543482;ENST00000451018;ENST00000357742	T;T;T	0.72282	-0.64;-0.37;-0.21	5.77	5.77	0.91146	.	0.269820	0.33834	N	0.004516	T	0.77471	0.4135	L	0.43923	1.385	0.80722	D	1	D;B;B;D	0.71674	0.998;0.137;0.039;0.997	D;B;B;P	0.63597	0.916;0.059;0.025;0.825	T	0.76637	-0.2886	10	0.46703	T	0.11	.	15.2516	0.73552	0.141:0.859:0.0:0.0	.	345;345;345;345	F5H415;Q6DN12-2;Q6DN12;B7Z6H2	.;.;MCTP2_HUMAN;.	F	345	ENSP00000438521:S345F;ENSP00000395109:S345F;ENSP00000350377:S345F	ENSP00000350377:S345F	S	+	2	0	MCTP2	92700398	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.813000	0.55636	2.720000	0.93068	0.557000	0.71058	TCT		0.393	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		T	94899394	C	T	94899394	3	4	200	1	0	0	0	0	1	0	0	0	9401	913	32	2	1064	2	MCTP2	15	94899394	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09		94899394	7631998	96	11611											
ABCC1	4363	genome.wustl.edu	37	16	16196533	16196533	+	Silent	SNP	T	T	C	rs556651702	byFrequency	TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr16:16196533T>C	ENST00000399410.3	+	20	2869	c.2694T>C	c.(2692-2694)aaT>aaC	p.N898N	ABCC1_ENST00000351154.5_Silent_p.N839N|ABCC1_ENST00000576557.1_3'UTR|ABCC1_ENST00000346370.5_Silent_p.N842N|ABCC1_ENST00000349029.5_Silent_p.N783N|ABCC1_ENST00000399408.2_Silent_p.N908N|ABCC1_ENST00000345148.5_Silent_p.N898N	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	898					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AAATGGAGAATGGCATGCTGG	0.597													T|||	3	0.000599042	0	0	5008	,	,		20501	0.003		0	False		,,,				2504	0															0			16											38	45	43					16																	16196533		2082	4210	6292	16104034	SO:0001819	synonymous_variant	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2694T>C	16.37:g.16196533T>C			16104034	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																				0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		C	16196533	T	C	16196533	2	2	200	1	0	0	0	0	0	0	0	1	49	1461	51	4		4	ABCC1	16	16196533	Silent	SNP	T	TCGA-23-2645-01A-01W-1091-09		16196533	74158220	97	11612											
IQCK	124152	genome.wustl.edu	37	16	19741751	19741751	+	Splice_Site	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr16:19741751G>T	ENST00000320394.6	+	3	880		c.e3-1		IQCK_ENST00000433597.2_Intron|IQCK_ENST00000541926.1_Splice_Site|IQCK_ENST00000564186.1_Splice_Site	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K											kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CTTCCCTTTAGAGTATGAAGC	0.398																																																0			16											106	107	106					16																	19741751		2197	4300	6497	19649252	SO:0001630	splice_region_variant	124152			AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.182-1G>T	16.37:g.19741751G>T			19649252	B2RDU0|O43327|Q8NFF4	Splice_Site	SNP	ENST00000320394.6	37	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940074	0.73557	.	.	ENSG00000174628	ENST00000320394;ENST00000308214;ENST00000541926	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3566	0.87337	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCK	19649252	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.497000	0.66924	2.775000	0.95449	0.563000	0.77884	.		0.398	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208	Intron	T	19741751	G	T	19741751	5	4	200	1	0	0	0	0	0	0	1	0	7813	956	33	3	187	3	IQCK	16	19741751	Splice_Site	SNP	G	TCGA-23-2645-01A-01W-1091-09	3545218	19741751	70613002	98	11613											
MYLK3	91807	genome.wustl.edu	37	16	46781804	46781804	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr16:46781804T>G	ENST00000394809.4	-	1	417	c.302A>C	c.(301-303)cAg>cCg	p.Q101P	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	101					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CGCATCCTGCTGCATGGCCCT	0.701																																																0			16											34	31	32					16																	46781804		2203	4299	6502	45339305	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.302A>C	16.37:g.46781804T>G	ENSP00000378288:p.Gln101Pro		45339305	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188852	0.57909	.	.	ENSG00000140795	ENST00000394809	T	0.69561	-0.41	4.87	-1.37	0.09056	.	0.536042	0.13959	N	0.350943	T	0.59756	0.2217	L	0.34521	1.04	0.52099	D	0.999947	D	0.61080	0.989	P	0.50314	0.637	T	0.60052	-0.7338	10	0.54805	T	0.06	.	10.5238	0.44936	0.0:0.3946:0.0:0.6054	.	101	Q32MK0	MYLK3_HUMAN	P	101	ENSP00000378288:Q101P	ENSP00000378288:Q101P	Q	-	2	0	MYLK3	45339305	0.036000	0.19791	0.633000	0.29310	0.876000	0.50452	-0.191000	0.09601	-0.168000	0.10853	0.402000	0.26972	CAG		0.701	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		G	46781804	T	G	46781804	3	3	200	1	0	0	0	0	1	0	0	0	10058	1580	55	5	2209	5	MYLK3	16	46781804	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	27040053	46781804	43572949	99	11614											
CDH11	1009	genome.wustl.edu	37	16	65025697	65025697	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr16:65025697T>C	ENST00000268603.4	-	6	1400	c.785A>G	c.(784-786)aAt>aGt	p.N262S	CDH11_ENST00000394156.3_Missense_Mutation_p.N262S|CDH11_ENST00000566827.1_Missense_Mutation_p.N136S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	262	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGGGTTGTCATTGACATCGGT	0.522			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0			16											307	212	244					16																	65025697		2203	4300	6503	63583198	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.785A>G	16.37:g.65025697T>C	ENSP00000268603:p.Asn262Ser		63583198	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039765	0.93630	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.70631	-0.5;-0.5	5.42	5.42	0.78866	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.044464	0.85682	D	0.000000	D	0.89315	0.6680	H	0.98256	4.185	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.66351	0.795;0.943	D	0.93126	0.6529	10	0.87932	D	0	.	14.6317	0.68660	0.0:0.0:0.0:1.0	.	262;262	P55287-2;P55287	.;CAD11_HUMAN	S	262;262;245	ENSP00000268603:N262S;ENSP00000377711:N262S	ENSP00000268603:N262S	N	-	2	0	CDH11	63583198	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.010000	0.88615	2.052000	0.61016	0.455000	0.32223	AAT		0.522	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		C	65025697	T	C	65025697	3	2	200	1	0	0	0	0	1	0	0	0	3097	1493	52	4	1637	4	CDH11	16	65025697	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	18243893	65025697	25329056	100	11615											
MFSD6L	162387	genome.wustl.edu	37	17	8701764	8701764	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr17:8701764C>G	ENST00000329805.4	-	1	903	c.675G>C	c.(673-675)ttG>ttC	p.L225F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	225						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TGGTCCCTGACAAATTGGCTG	0.592																																																0			17											54	64	60					17																	8701764		2203	4300	6503	8642489	SO:0001583	missense	162387			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.675G>C	17.37:g.8701764C>G	ENSP00000330051:p.Leu225Phe		8642489	Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971598	0.34754	.	.	ENSG00000185156	ENST00000329805	D	0.90788	-2.73	4.86	2.86	0.33363	.	2.302200	0.02275	N	0.068841	D	0.90307	0.6968	L	0.57536	1.79	0.21553	N	0.999648	P	0.50369	0.934	P	0.44597	0.454	T	0.76623	-0.2891	10	0.52906	T	0.07	0.0657	8.0874	0.30780	0.0:0.613:0.3035:0.0835	.	225	Q8IWD5	MFS6L_HUMAN	F	225	ENSP00000330051:L225F	ENSP00000330051:L225F	L	-	3	2	MFSD6L	8642489	0.035000	0.19736	0.140000	0.22221	0.005000	0.04900	0.183000	0.16919	0.630000	0.30394	-0.136000	0.14681	TTG		0.592	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		G	8701764	C	G	8701764	3	3	200	1	0	0	0	0	1	0	0	0	9536	477	17	3	1089	3	MFSD6L	17	8701764	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09		8701764	72493446	101	11616											
CCT6B	10693	genome.wustl.edu	37	17	33266306	33266306	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr17:33266306C>G	ENST00000314144.5	-	10	1224	c.1109G>C	c.(1108-1110)tGc>tCc	p.C370S	CCT6B_ENST00000436961.3_Missense_Mutation_p.C325S|CCT6B_ENST00000421975.3_Missense_Mutation_p.C333S	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	370					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GGTAACAGAGCAAGGGTTAAC	0.353																																																0			17											188	162	171					17																	33266306		2203	4300	6503	30290419	SO:0001583	missense	10693			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1109G>C	17.37:g.33266306C>G	ENSP00000327191:p.Cys370Ser		30290419	B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	C	1.382	-0.583112	0.03827	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.76839	-1.05;-1.05;-1.05	4.47	-0.243	0.13035	.	0.292083	0.44285	D	0.000463	T	0.52693	0.1750	N	0.04508	-0.205	0.23282	N	0.997987	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.47724	-0.9095	10	0.72032	D	0.01	0.9925	8.7343	0.34519	0.3632:0.5597:0.0:0.0771	.	325;333;370	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	S	333;370;325	ENSP00000398044:C333S;ENSP00000327191:C370S;ENSP00000400917:C325S	ENSP00000327191:C370S	C	-	2	0	CCT6B	30290419	1.000000	0.71417	0.997000	0.53966	0.046000	0.14306	0.868000	0.27982	-0.295000	0.08960	-2.696000	0.00138	TGC		0.353	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		G	33266306	C	G	33266306	3	3	200	1	0	0	0	0	1	0	0	0	2958	710	25	3	503	3	CCT6B	17	33266306	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	24564542	33266306	47928904	102	11617											
AMAC1	146861	genome.wustl.edu	37	17	33520722	33520722	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr17:33520722G>A	ENST00000297307.5	-	1	690	c.605C>T	c.(604-606)gCg>gTg	p.A202V	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	202						integral component of membrane (GO:0016021)											CAGGGACAGCGCCAGGCCTCC	0.607																																																0			17											95	102	99					17																	33520722		2203	4300	6503	30544835	SO:0001583	missense	146861			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.605C>T	17.37:g.33520722G>A	ENSP00000297307:p.Ala202Val		30544835	B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597589	0.28445	.	.	ENSG00000164729	ENST00000297307	T	0.27890	1.64	.	.	.	.	0.146381	0.30723	N	0.009015	T	0.17746	0.0426	L	0.51422	1.61	0.25692	N	0.985678	P	0.40144	0.704	B	0.31869	0.137	T	0.23048	-1.0199	9	0.15066	T	0.55	-0.7688	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	202	Q8N808	S35G3_HUMAN	V	202	ENSP00000297307:A202V	ENSP00000297307:A202V	A	-	2	0	SLC35G3	30544835	0.545000	0.26449	0.138000	0.22173	0.139000	0.21198	1.948000	0.40303	0.064000	0.16427	0.064000	0.15345	GCG		0.607	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		A	33520722	G	A	33520722	3	1	200	1	0	0	0	0	1	0	0	0	559	1087	38	1	415	1	AMAC1	17	33520722	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	254416	33520722	47674488	103	11618											
ASB16	92591	genome.wustl.edu	37	17	42255062	42255062	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr17:42255062T>C	ENST00000293414.1	+	4	1232	c.1148T>C	c.(1147-1149)gTg>gCg	p.V383A	ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	383					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GAGACCTGGGTGGAGGCGGTG	0.582																																																0			17											155	117	130					17																	42255062		2203	4300	6503	39610588	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1148T>C	17.37:g.42255062T>C	ENSP00000293414:p.Val383Ala		39610588	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.511526	0.44660	.	.	ENSG00000161664	ENST00000293414	T	0.63096	-0.02	5.2	1.68	0.24146	.	0.513654	0.20757	N	0.086238	T	0.41949	0.1181	N	0.20986	0.625	0.25690	N	0.985704	B	0.06786	0.001	B	0.06405	0.002	T	0.20075	-1.0286	10	0.28530	T	0.3	-23.1015	7.3972	0.26944	0.0:0.2776:0.0:0.7224	.	383	Q96NS5	ASB16_HUMAN	A	383	ENSP00000293414:V383A	ENSP00000293414:V383A	V	+	2	0	ASB16	39610588	0.490000	0.26012	0.827000	0.32855	0.987000	0.75469	1.225000	0.32551	0.446000	0.26666	0.402000	0.26972	GTG		0.582	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			C	42255062	T	C	42255062	3	2	200	1	0	0	0	0	1	0	0	0	1020	1696	59	4	1162	4	ASB16	17	42255062	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09	8734340	42255062	38940148	104	11619											
CCDC103	388389	genome.wustl.edu	37	17	42979935	42979935	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr17:42979935G>T	ENST00000417826.2	+	4	574	c.479G>T	c.(478-480)cGg>cTg	p.R160L	FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Missense_Mutation_p.R160L|EFTUD2_ENST00000426333.2_5'Flank|FAM187A_ENST00000331733.4_5'UTR|AC015936.3_ENST00000441312.1_RNA	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	160					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				CCGGCTGACCGGGCAGCGGTG	0.652																																																0			17											54	61	59					17																	42979935		2203	4300	6503	40335461	SO:0001583	missense	388389			AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.479G>T	17.37:g.42979935G>T	ENSP00000391692:p.Arg160Leu		40335461	A8K145|B8ZZU0	Missense_Mutation	SNP	ENST00000417826.2	37	CCDS11490.1	.	.	.	.	.	.	.	.	.	.	G	5.116	0.207082	0.09704	.	.	ENSG00000167131	ENST00000357776;ENST00000417826;ENST00000410006	T;T;T	0.54866	0.55;0.55;0.55	5.64	3.63	0.41609	.	1.223890	0.06283	U	0.697782	T	0.49287	0.1548	L	0.29908	0.895	0.09310	N	1	P	0.45283	0.855	P	0.48304	0.573	T	0.35276	-0.9795	10	0.26408	T	0.33	0.3331	9.4555	0.38751	0.2162:0.0:0.7838:0.0	.	160	Q8IW40	CC103_HUMAN	L	160	ENSP00000350420:R160L;ENSP00000391692:R160L;ENSP00000387252:R160L	ENSP00000350420:R160L	R	+	2	0	CCDC103	40335461	0.164000	0.22935	0.003000	0.11579	0.062000	0.15995	2.412000	0.44609	1.628000	0.50416	0.650000	0.86243	CGG		0.652	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607		T	42979935	G	T	42979935	3	4	200	1	0	0	0	0	1	0	0	0	2738	1116	39	3	489	3	CCDC103	17	42979935	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	724873	42979935	38215275	105	11620											
MARCH10	162333	genome.wustl.edu	37	17	60821763	60821763	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr17:60821763G>T	ENST00000311269.5	-	5	783	c.509C>A	c.(508-510)gCa>gAa	p.A170E	MARCH10_ENST00000456609.2_Missense_Mutation_p.A170E|MARCH10_ENST00000583600.1_Missense_Mutation_p.A208E|MARCH10_ENST00000544856.2_Missense_Mutation_p.A169E	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	170					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CGGCACCTTTGCAGGCCACTG	0.552																																																0			17											107	104	105					17																	60821763		2203	4300	6503	58175495	SO:0001583	missense	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.509C>A	17.37:g.60821763G>T	ENSP00000311496:p.Ala170Glu		58175495	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	9.532	1.111145	0.20714	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.34472	1.36;1.36;1.36	5.11	-10.2	0.00374	.	3.899720	0.00575	N	0.000312	T	0.21962	0.0529	L	0.47716	1.5	0.09310	N	1	B;B;P	0.42827	0.0;0.0;0.791	B;B;B	0.35240	0.001;0.003;0.198	T	0.37526	-0.9702	10	0.37606	T	0.19	3.197	3.8266	0.08856	0.2873:0.3781:0.2506:0.084	.	169;169;170	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	E	170;170;169	ENSP00000416177:A170E;ENSP00000311496:A170E;ENSP00000443746:A169E	ENSP00000311496:A170E	A	-	2	0	MARCH10	58175495	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.900000	0.01599	-1.983000	0.00987	-1.082000	0.02213	GCA		0.552	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		T	60821763	G	T	60821763	3	4	200	1	0	0	0	0	1	0	0	0	9299	1319	46	3	1945	3	MARCH10	17	60821763	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	17841828	60821763	20373447	106	11621											
BPTF	2186	genome.wustl.edu	37	17	65942142	65942142	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr17:65942142C>A	ENST00000321892.4	+	23	7757	c.7696C>A	c.(7696-7698)Caa>Aaa	p.Q2566K	BPTF_ENST00000424123.3_Intron|BPTF_ENST00000306378.6_Missense_Mutation_p.Q2440K|BPTF_ENST00000335221.5_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2566					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCAGCTGCAACAACAAGTCCA	0.488																																																0			17											121	105	110					17																	65942142		2203	4300	6503	63372604	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7696C>A	17.37:g.65942142C>A	ENSP00000315454:p.Gln2566Lys		63372604	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	19.11	3.763302	0.69763	.	.	ENSG00000171634	ENST00000306378;ENST00000321892	T;T	0.20881	2.04;2.04	6.1	6.1	0.99115	.	.	.	.	.	T	0.29355	0.0731	L	0.56769	1.78	0.80722	D	1	P	0.37370	0.592	B	0.40329	0.326	T	0.01056	-1.1466	9	0.22109	T	0.4	-0.2113	20.7146	0.99709	0.0:1.0:0.0:0.0	.	2440	Q12830-2	.	K	2440;2566	ENSP00000307208:Q2440K;ENSP00000315454:Q2566K	ENSP00000307208:Q2440K	Q	+	1	0	BPTF	63372604	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.408000	0.80041	2.902000	0.99343	0.650000	0.86243	CAA		0.488	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		A	65942142	C	A	65942142	3	1	200	1	0	0	0	0	1	0	0	0	1495	479	17	3	7786	3	BPTF	17	65942142	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	5120379	65942142	15253068	107	11622											
L3MBTL4	91133	genome.wustl.edu	37	18	6080922	6080922	+	Missense_Mutation	SNP	T	T	A	rs372184772		TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr18:6080922T>A	ENST00000284898.6	-	16	1602	c.1402A>T	c.(1402-1404)Atc>Ttc	p.I468F	RP11-793A3.2_ENST00000577935.1_RNA|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.I468F|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.I468F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.I468F|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.I281F	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	468					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTCCTTTGATTTTCAAACAC	0.343																																					Esophageal Squamous(41;748 902 17366 28959 43175)											0			18											92	88	90					18																	6080922		2201	4299	6500	6070922	SO:0001583	missense	91133			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1402A>T	18.37:g.6080922T>A	ENSP00000284898:p.Ile468Phe		6070922	A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091457	0.76756	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.14766	2.48;2.49;2.48;2.5;2.65	5.65	5.65	0.86999	.	0.365789	0.25250	N	0.032022	T	0.15565	0.0375	N	0.24115	0.695	0.40702	D	0.982497	P;P	0.46784	0.83;0.884	P;P	0.49708	0.496;0.62	T	0.02758	-1.1114	10	0.51188	T	0.08	.	12.281	0.54762	0.0:0.0:0.0:1.0	.	468;468	Q8NA19;F8W9S8	LMBL4_HUMAN;.	F	468;468;468;281;468	ENSP00000382976:I468F;ENSP00000318543:I468F;ENSP00000284898:I468F;ENSP00000444774:I281F;ENSP00000382975:I468F	ENSP00000284898:I468F	I	-	1	0	L3MBTL4	6070922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.186000	0.42593	2.149000	0.67028	0.533000	0.62120	ATC		0.343	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		A	6080922	T	A	6080922	3	1	200	1	0	0	0	0	1	0	0	0	8594	1493	52	5	489	5	L3MBTL4	18	6080922	Missense_Mutation	SNP	T	TCGA-23-2645-01A-01W-1091-09		6080922	71996326	108	11623											
CNN2	1265	genome.wustl.edu	37	19	1036537	1036537	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr19:1036537G>C	ENST00000263097.4	+	6	993	c.630G>C	c.(628-630)atG>atC	p.M210I	CNN2_ENST00000565096.2_Missense_Mutation_p.M199I|CNN2_ENST00000348419.3_Missense_Mutation_p.M171I|CNN2_ENST00000562958.2_Missense_Mutation_p.M231I|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	210					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCCAGATGGGCACGAACA	0.662																																																0			19											53	57	55					19																	1036537		2203	4299	6502	987537	SO:0001583	missense	1265			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.630G>C	19.37:g.1036537G>C	ENSP00000263097:p.Met210Ile		987537	A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.464373	0.84425	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.58940	0.3;0.3	4.18	4.18	0.49190	.	0.047302	0.85682	U	0.000000	T	0.78534	0.4298	M	0.90650	3.135	0.46279	D	0.998965	B;P;D;D;P;P	0.69078	0.368;0.868;0.992;0.997;0.747;0.868	B;P;P;D;B;P	0.69479	0.238;0.694;0.858;0.964;0.298;0.694	D	0.83520	0.0085	10	0.66056	D	0.02	.	14.027	0.64592	0.0:0.0:1.0:0.0	.	231;199;185;171;210;210	B4DUT8;B4DDF4;B4DHU5;A6NFI4;Q99439;Q6FHE4	.;.;.;.;CNN2_HUMAN;.	I	210;171;189	ENSP00000263097:M210I;ENSP00000340129:M171I	ENSP00000263097:M210I	M	+	3	0	CNN2	987537	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.370000	0.79589	2.173000	0.68751	0.556000	0.70494	ATG		0.662	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		C	1036537	G	C	1036537	3	2	200	1	0	0	0	0	1	0	0	0	3610	1348	47	3	652	3	CNN2	19	1036537	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09		1036537	58092446	109	11624											
ZNF44	51710	genome.wustl.edu	37	19	12384612	12384612	+	Missense_Mutation	SNP	C	C	T	rs372299239		TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr19:12384612C>T	ENST00000356109.5	-	5	720	c.602G>A	c.(601-603)cGc>cAc	p.R201H	ZNF44_ENST00000355684.5_Missense_Mutation_p.R153H	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAAGGAGTGGCGATAACTTAA	0.428																																																0			19						C	HIS/ARG,HIS/ARG	0,4404		0,0,2202	107	107	107		602,458	-1.3	0	19		107	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	ZNF44	NM_001164276.1,NM_016264.3	29,29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	201/664,153/616	12384612	1,12997	2202	4297	6499	12245612	SO:0001583	missense	51710			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.602G>A	19.37:g.12384612C>T	ENSP00000348419:p.Arg201His		12245612	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.413747	0.01145	0.0	1.16E-4	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.29397	1.57;1.57;3.23	0.645	-1.29	0.09288	Zinc finger, C2H2 (1);	.	.	.	.	T	0.14313	0.0346	N	0.25031	0.7	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38757	-0.9646	8	0.11182	T	0.66	.	3.5764	0.07936	0.2576:0.4847:0.2577:0.0	.	201;153	P15621;F8W7T7	ZNF44_HUMAN;.	H	201;201;153;153	ENSP00000377008:R201H;ENSP00000348419:R201H;ENSP00000347910:R153H	ENSP00000347910:R153H	R	-	2	0	ZNF44	12245612	0.001000	0.12720	0.006000	0.13384	0.050000	0.14768	0.102000	0.15272	-1.050000	0.03230	0.205000	0.17691	CGC		0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		T	12384612	C	T	12384612	3	4	200	1	0	0	0	0	1	0	0	0	17912	768	27	1	1393	1	ZNF44	19	12384612	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	11348075	12384612	46744371	110	11625											
NCAN	1463	genome.wustl.edu	37	19	19356178	19356178	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr19:19356178C>A	ENST00000252575.6	+	13	3648	c.3549C>A	c.(3547-3549)gaC>gaA	p.D1183E	NCAN_ENST00000538881.1_Missense_Mutation_p.D634E	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1183	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GTGGCGAGGACTGTGTGGTGA	0.572																																																0			19											141	119	126					19																	19356178		2203	4300	6503	19217178	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3549C>A	19.37:g.19356178C>A	ENSP00000252575:p.Asp1183Glu		19217178	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166798	0.78339	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.19669	2.13;2.13	4.62	-2.06	0.07298	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.37669	N	0.001981	T	0.42040	0.1185	M	0.83692	2.655	0.35669	D	0.813142	D	0.89917	1.0	D	0.87578	0.998	T	0.52381	-0.8583	10	0.62326	D	0.03	.	9.471	0.38842	0.0:0.5523:0.0:0.4477	.	1183	O14594	NCAN_HUMAN	E	1197;1183;634	ENSP00000252575:D1183E;ENSP00000442202:D634E	ENSP00000252575:D1183E	D	+	3	2	NCAN	19217178	0.990000	0.36364	0.996000	0.52242	0.946000	0.59487	0.358000	0.20216	-0.136000	0.11475	0.453000	0.30009	GAC		0.572	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19356178	C	A	19356178	3	1	200	1	0	0	0	0	1	0	0	0	10204	564	20	3	3595	3	NCAN	19	19356178	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	6971566	19356178	39772805	111	11626											
SAMD4B	55095	genome.wustl.edu	37	19	39873883	39873883	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr19:39873883C>G	ENST00000314471.6	+	15	3043	c.2008C>G	c.(2008-2010)Ccc>Gcc	p.P670A	SAMD4B_ENST00000598913.1_Missense_Mutation_p.P670A|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	670					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GGAGATCAATCCCACTCTGGA	0.587																																																0			19											169	131	144					19																	39873883		2203	4300	6503	44565723	SO:0001583	missense	55095				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.2008C>G	19.37:g.39873883C>G	ENSP00000317224:p.Pro670Ala		44565723	A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827626	0.50845	.	.	ENSG00000179134	ENST00000314471	.	.	.	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000001	T	0.66925	0.2839	L	0.40543	1.245	0.53005	D	0.99996	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.69221	-0.5202	9	0.56958	D	0.05	.	14.0681	0.64844	0.0:1.0:0.0:0.0	.	670;670	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	A	670	.	ENSP00000317224:P670A	P	+	1	0	SAMD4B	44565723	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.366000	0.52343	2.186000	0.69663	0.289000	0.19496	CCC		0.587	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		G	39873883	C	G	39873883	3	3	200	1	0	0	0	0	1	0	0	0	13825	855	30	3	2050	3	SAMD4B	19	39873883	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	20517705	39873883	19255100	112	11627											
LIG1	3978	genome.wustl.edu	37	19	48638978	48638978	+	Silent	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr19:48638978C>T	ENST00000263274.7	-	16	1901	c.1482G>A	c.(1480-1482)acG>acA	p.T494T	LIG1_ENST00000427526.2_Silent_p.T463T|LIG1_ENST00000536218.1_Silent_p.T426T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	494					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCTCCAGCCACGTCTTTCTGG	0.597								Nucleotide excision repair (NER)																																								0			19											213	172	186					19																	48638978		2203	4300	6503	53330790	SO:0001819	synonymous_variant	3978				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1482G>A	19.37:g.48638978C>T			53330790	B2RAI8|Q2TB12|Q32P23	Silent	SNP	ENST00000263274.7	37	CCDS12711.1																																																																																				0.597	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		T	48638978	C	T	48638978	2	4	200	1	0	0	0	0	0	0	0	1	8781	523	19	1		1	LIG1	19	48638978	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	8765095	48638978	10490005	113	11628											
ZNF665	79788	genome.wustl.edu	37	19	53668104	53668104	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr19:53668104A>G	ENST00000600412.1	-	2	1559	c.1444T>C	c.(1444-1446)Tgc>Cgc	p.C482R	ZNF665_ENST00000396424.3_Missense_Mutation_p.C547R|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	482					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACCTTGCCGCAATCATTACAT	0.383																																																0			19											147	157	154					19																	53668104		2201	4300	6501	58359916	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1444T>C	19.37:g.53668104A>G	ENSP00000469154:p.Cys482Arg		58359916	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	A	13.06	2.125132	0.37533	.	.	ENSG00000197497	ENST00000396424	D	0.85955	-2.05	2.28	2.28	0.28536	.	.	.	.	.	D	0.93890	0.8045	H	0.96604	3.85	0.40266	D	0.978231	D	0.89917	1.0	D	0.97110	1.0	D	0.93743	0.7052	9	0.87932	D	0	.	9.2402	0.37491	1.0:0.0:0.0:0.0	.	547	Q9H7R5-2	.	R	547	ENSP00000379702:C547R	ENSP00000379702:C547R	C	-	1	0	ZNF665	58359916	0.961000	0.32948	0.002000	0.10522	0.009000	0.06853	5.741000	0.68638	1.042000	0.40150	0.338000	0.21704	TGC		0.383	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		G	53668104	A	G	53668104	3	3	200	1	0	0	0	0	1	0	0	0	18073	130	5	4	401	4	ZNF665	19	53668104	Missense_Mutation	SNP	A	TCGA-23-2645-01A-01W-1091-09	5029126	53668104	5460879	114	11629											
NLRP7	199713	genome.wustl.edu	37	19	55435157	55435157	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr19:55435157C>G	ENST00000590030.1	-	9	2934	c.2894G>C	c.(2893-2895)tGc>tCc	p.C965S	NLRP7_ENST00000446217.1_Missense_Mutation_p.C1050S|NLRP7_ENST00000592784.1_Missense_Mutation_p.C1022S|NLRP7_ENST00000588756.1_Missense_Mutation_p.C1022S|NLRP7_ENST00000448121.2_Missense_Mutation_p.C994S|NLRP7_ENST00000340844.2_Missense_Mutation_p.C965S|NLRP7_ENST00000328092.5_Missense_Mutation_p.C994S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	965							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAAGCATTGCAATCAATAGT	0.478																																																0			19											136	133	134					19																	55435157		2203	4300	6503	60126969	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2894G>C	19.37:g.55435157C>G	ENSP00000465520:p.Cys965Ser		60126969	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	2.315	-0.357061	0.05138	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T	0.72725	-0.59;-0.68;-0.64	2.11	-0.113	0.13568	.	.	.	.	.	T	0.41789	0.1174	N	0.11789	0.175	0.09310	N	1	D;B;P	0.53885	0.963;0.045;0.879	B;B;B	0.41036	0.346;0.007;0.306	T	0.41233	-0.9520	9	0.06625	T	0.88	.	4.5595	0.12152	0.0:0.661:0.0:0.339	.	1050;965;994	E7EPM2;Q8WX94;Q8WX94-2	.;NALP7_HUMAN;.	S	1022;994;965;1050	ENSP00000409137:C994S;ENSP00000339491:C965S;ENSP00000414273:C1050S	ENSP00000329568:C1022S	C	-	2	0	NLRP7	60126969	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.660000	0.25009	0.056000	0.16144	-0.156000	0.13503	TGC		0.478	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		G	55435157	C	G	55435157	3	3	200	1	0	0	0	0	1	0	0	0	10482	710	25	3	52	3	NLRP7	19	55435157	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	1767053	55435157	3693826	115	11630											
ERGIC3	51614	genome.wustl.edu	37	20	34135217	34135217	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr20:34135217G>A	ENST00000348547.2	+	5	499	c.422G>A	c.(421-423)cGc>cAc	p.R141H	ERGIC3_ENST00000447986.1_Missense_Mutation_p.R141H|ERGIC3_ENST00000279052.6_Missense_Mutation_p.R141H|ERGIC3_ENST00000357394.4_Missense_Mutation_p.R141H	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	141					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GACCCTGATCGCTGTGAGAGC	0.602																																																0			20											114	82	93					20																	34135217		2203	4300	6503	33598631	SO:0001583	missense	51614			AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"serologically defined breast cancer antigen 84", "chromosome 20 open reading frame 47"	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.422G>A	20.37:g.34135217G>A	ENSP00000341358:p.Arg141His		33598631	Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	ENST00000348547.2	37	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265628|5.265628	0.95399|0.95399	.|.	.|.	ENSG00000125991|ENSG00000125991	ENST00000416206|ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052	.|T;T;T;T	.|0.44083	.|0.94;0.93;0.94;0.93	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	.|0.054638	.|0.85682	.|D	.|0.000000	T|T	0.38081|0.38081	0.1027|0.1027	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;D;D;D;D	.|0.64830	.|0.366;0.981;0.989;0.982;0.994	.|B;P;P;P;P	.|0.54889	.|0.071;0.584;0.584;0.635;0.763	T|T	0.09684|0.09684	-1.0663|-1.0663	5|10	.|0.17369	.|T	.|0.5	-17.9825|-17.9825	16.0006|16.0006	0.80290|0.80290	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|141;141;141;141;141	.|B4DV36;E9PFA8;Q9Y282;Q9Y282-3;Q9Y282-2	.|.;.;ERGI3_HUMAN;.;.	T|H	140|141	.|ENSP00000341358:R141H;ENSP00000349970:R141H;ENSP00000392341:R141H;ENSP00000279052:R141H	.|ENSP00000279052:R141H	A|R	+|+	1|2	0|0	ERGIC3|ERGIC3	33598631|33598631	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	9.171000|9.171000	0.94802|0.94802	2.442000|2.442000	0.82660|0.82660	0.555000|0.555000	0.69702|0.69702	GCT|CGC		0.602	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		A	34135217	G	A	34135217	3	1	200	1	0	0	0	0	1	0	0	0	5225	1087	38	1	440	1	ERGIC3	20	34135217	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09		34135217	28890303	116	11631											
CHD6	84181	genome.wustl.edu	37	20	40081475	40081475	+	Silent	SNP	G	G	A	rs182170504		TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr20:40081475G>A	ENST00000373233.3	-	21	3405	c.3228C>T	c.(3226-3228)gaC>gaT	p.D1076D	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1076					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGGGCCTTTCGTCTGAGTCGC	0.547													G|||	1	0.000199681	0	0	5008	,	,		19741	0.001		0	False		,,,				2504	0															0			20											148	120	130					20																	40081475		2203	4300	6503	39514889	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3228C>T	20.37:g.40081475G>A			39514889	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.547	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			A	40081475	G	A	40081475	2	1	200	1	0	0	0	0	0	0	0	1	3329	1136	40	1		1	CHD6	20	40081475	Silent	SNP	G	TCGA-23-2645-01A-01W-1091-09	5946258	40081475	22944045	117	11632											
HNF4A	3172	genome.wustl.edu	37	20	43034855	43034855	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr20:43034855C>A	ENST00000316099.4	+	2	362	c.273C>A	c.(271-273)aaC>aaA	p.N91K	HNF4A_ENST00000316673.4_Missense_Mutation_p.N69K|HNF4A_ENST00000443598.2_Missense_Mutation_p.N91K|HNF4A_ENST00000457232.1_Missense_Mutation_p.N69K|HNF4A_ENST00000609795.1_Missense_Mutation_p.N69K|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000415691.2_Missense_Mutation_p.N91K	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	91					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCGGAAGAACCACATGTACT	0.607																																					Colon(79;2 1269 8820 14841 52347)											0			20											52	49	50					20																	43034855		2203	4300	6503	42468269	SO:0001583	missense	3172			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.273C>A	20.37:g.43034855C>A	ENSP00000312987:p.Asn91Lys		42468269	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.937078	0.73557	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95	5.17	3.24	0.37175	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.185694	0.56097	D	0.000023	D	0.94105	0.8110	N	0.16478	0.41	0.80722	D	1	P;P;P;P;P;P;P	0.44429	0.835;0.576;0.576;0.802;0.553;0.498;0.521	P;P;P;P;B;B;B	0.53518	0.728;0.457;0.457;0.607;0.392;0.272;0.328	D	0.93957	0.7237	10	0.87932	D	0	.	10.9289	0.47207	0.0:0.8492:0.0:0.1508	.	84;91;91;91;69;69;69	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	K	69;69;91;91;121;91	ENSP00000315180:N69K;ENSP00000396216:N69K;ENSP00000312987:N91K;ENSP00000410911:N91K;ENSP00000412111:N91K	ENSP00000312987:N91K	N	+	3	2	HNF4A	42468269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.193000	0.50997	1.186000	0.42985	0.645000	0.84053	AAC		0.607	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			A	43034855	C	A	43034855	3	1	200	1	0	0	0	0	1	0	0	0	7253	506	18	3	332	3	HNF4A	20	43034855	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	2953380	43034855	19990665	118	11633											
NFATC2	4773	genome.wustl.edu	37	20	50158928	50158928	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr20:50158928C>G	ENST00000396009.3	-	1	330	c.111G>C	c.(109-111)gaG>gaC	p.E37D	NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000371564.3_Missense_Mutation_p.E37D|NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000610033.1_5'UTR	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	37					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATTCAAATACTCATAGTCGA	0.677																																																0			20											24	28	26					20																	50158928		2201	4300	6501	49592335	SO:0001583	missense	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.111G>C	20.37:g.50158928C>G	ENSP00000379330:p.Glu37Asp		49592335	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	4.393	0.072630	0.08436	.	.	ENSG00000101096	ENST00000371564;ENST00000396009	T;T	0.14391	2.51;2.52	4.18	-0.801	0.10893	.	0.484355	0.18463	N	0.140466	T	0.04907	0.0132	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45381	-0.9265	10	0.02654	T	1	-5.6613	14.8849	0.70560	0.0:0.5844:0.4156:0.0	.	37;37	Q13469;B5B2N8	NFAC2_HUMAN;.	D	37	ENSP00000360619:E37D;ENSP00000379330:E37D	ENSP00000360619:E37D	E	-	3	2	NFATC2	49592335	0.978000	0.34361	0.998000	0.56505	0.844000	0.47949	0.009000	0.13219	0.002000	0.14630	-0.519000	0.04390	GAG		0.677	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		G	50158928	C	G	50158928	3	3	200	1	0	0	0	0	1	0	0	0	10362	564	20	3	2754	3	NFATC2	20	50158928	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	7124073	50158928	12866592	119	11634											
KRTAP13-1	140258	genome.wustl.edu	37	21	31768628	31768628	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr21:31768628C>T	ENST00000355459.2	+	1	237	c.224C>T	c.(223-225)cCc>cTc	p.P75L		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGTCCAGCCCCTGCCAGACC	0.612																																																0			21											62	63	62					21																	31768628		2203	4300	6503	30690499	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.224C>T	21.37:g.31768628C>T	ENSP00000347635:p.Pro75Leu		30690499	Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762629	0.49574	.	.	ENSG00000198390	ENST00000355459	T	0.03441	3.93	4.51	3.61	0.41365	.	0.188804	0.25299	N	0.031661	T	0.16896	0.0406	M	0.85777	2.775	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.02269	-1.1185	10	0.62326	D	0.03	.	7.8327	0.29353	0.1855:0.6353:0.1792:0.0	.	75	Q8IUC0	KR131_HUMAN	L	75	ENSP00000347635:P75L	ENSP00000347635:P75L	P	+	2	0	KRTAP13-1	30690499	0.001000	0.12720	0.085000	0.20634	0.037000	0.13140	0.903000	0.28475	1.459000	0.47892	0.557000	0.71058	CCC		0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			T	31768628	C	T	31768628	3	4	200	1	0	0	0	0	1	0	0	0	8522	623	22	2	226	2	KRTAP13-1	21	31768628	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09		31768628	16361267	120	11635											
PRMT2	3275	genome.wustl.edu	37	21	48078803	48078803	+	Silent	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr21:48078803C>T	ENST00000397637.1	+	7	1755	c.801C>T	c.(799-801)aaC>aaT	p.N267N	PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000451211.2_Silent_p.N267N|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000355680.3_Silent_p.N267N|PRMT2_ENST00000397638.2_Silent_p.N267N|PRMT2_ENST00000440086.1_Intron			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	267	Interaction with ESR1.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TCTGGGACAACGCGTACGAGT	0.582																																																0			21											145	106	119					21																	48078803		2203	4300	6503	46903231	SO:0001819	synonymous_variant	3275			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.801C>T	21.37:g.48078803C>T			46903231	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	ENST00000397637.1	37	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	.	9.854	1.194565	0.22037	.	.	ENSG00000160310	ENST00000379844	.	.	.	5.14	-1.04	0.10068	.	.	.	.	.	T	0.55321	0.1913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49826	-0.8898	4	.	.	.	-19.8553	9.4632	0.38798	0.0:0.4118:0.0:0.5881	.	.	.	.	M	153	.	.	T	+	2	0	PRMT2	46903231	0.116000	0.22171	0.991000	0.47740	0.915000	0.54546	-1.502000	0.02279	-0.179000	0.10654	-0.251000	0.11542	ACG		0.582	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		T	48078803	C	T	48078803	2	4	200	1	0	0	0	0	0	0	0	1	12540	535	19	1		1	PRMT2	21	48078803	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09	16310175	48078803	51092	121	11636											
PRAME	23532	genome.wustl.edu	37	22	22890969	22890969	+	Silent	SNP	C	C	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr22:22890969C>T	ENST00000398741.1	-	6	1356	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	PRAME_ENST00000539862.1_Silent_p.Q334Q|PRAME_ENST00000405655.3_Silent_p.Q350Q|PRAME_ENST00000424204.2_Silent_p.Q334Q|PRAME_ENST00000543184.1_Silent_p.Q350Q|PRAME_ENST00000402697.1_Silent_p.Q350Q|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000398743.2_Silent_p.Q350Q	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	350					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGACACTTAGCTGACTGACGC	0.577																																					Melanoma(73;1707 1838 15168 27201)											0			22											142	136	138					22																	22890969		2203	4300	6503	21220969	SO:0001819	synonymous_variant	23532			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1050G>A	22.37:g.22890969C>T			21220969	B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	CCDS13801.1																																																																																				0.577	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		T	22890969	C	T	22890969	2	4	200	1	0	0	0	0	0	0	0	1	12427	796	28	2		2	PRAME	22	22890969	Silent	SNP	C	TCGA-23-2645-01A-01W-1091-09		22890969	28413597	122	11637											
CYTH4	27128	genome.wustl.edu	37	22	37707075	37707075	+	Missense_Mutation	SNP	C	C	G	rs370247166		TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chr22:37707075C>G	ENST00000248901.6	+	10	1042	c.855C>G	c.(853-855)gaC>gaG	p.D285E		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	285	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCCTGACCGACAACTGCCTCT	0.627																																																0			22											174	139	151					22																	37707075		2203	4300	6503	36037021	SO:0001583	missense	27128			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.855C>G	22.37:g.37707075C>G	ENSP00000248901:p.Asp285Glu		36037021	Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	CCDS13946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.54|13.54	2.268360|2.268360	0.40095|0.40095	.|.	.|.	ENSG00000100055|ENSG00000100055	ENST00000248901|ENST00000446506	T|.	0.19105|.	2.17|.	4.52|4.52	1.99|1.99	0.26369|0.26369	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51719|0.51719	0.1691|0.1691	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	B|.	0.29612|.	0.251|.	B|.	0.34385|.	0.181|.	T|T	0.42682|0.42682	-0.9437|-0.9437	10|5	0.36615|.	T|.	0.2|.	.|.	6.6752|6.6752	0.23090|0.23090	0.0:0.6698:0.0:0.3302|0.0:0.6698:0.0:0.3302	.|.	285|.	Q9UIA0|.	CYH4_HUMAN|.	E|E	285|38	ENSP00000248901:D285E|.	ENSP00000248901:D285E|.	D|Q	+|+	3|1	2|0	CYTH4|CYTH4	36037021|36037021	0.994000|0.994000	0.37717|0.37717	0.956000|0.956000	0.39512|0.39512	0.839000|0.839000	0.47603|0.47603	0.411000|0.411000	0.21115|0.21115	1.008000|1.008000	0.39264|0.39264	-0.140000|-0.140000	0.14226|0.14226	GAC|CAA		0.627	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			G	37707075	C	G	37707075	3	3	200	1	0	0	0	0	1	0	0	0	4206	477	17	3	893	3	CYTH4	22	37707075	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	14816106	37707075	13597491	123	11638											
ZDHHC15	158866	genome.wustl.edu	37	X	74636973	74636973	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chrX:74636973G>C	ENST00000373367.3	-	10	1146	c.916C>G	c.(916-918)Cca>Gca	p.P306A	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.P297A|ZDHHC15_ENST00000373361.3_3'UTR	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	306					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GCTAGCAGTGGGTTCTGTGAC	0.448																																																0			X											258	209	225					X																	74636973		2203	4300	6503	74553698	SO:0001583	missense	158866			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.916C>G	X.37:g.74636973G>C	ENSP00000362465:p.Pro306Ala		74553698	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	G	7.746	0.702364	0.15172	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.40756	1.02;1.24	5.43	5.43	0.79202	.	0.154836	0.64402	D	0.000015	T	0.36303	0.0962	L	0.57536	1.79	0.80722	D	1	B;B	0.31837	0.342;0.057	B;B	0.25884	0.064;0.015	T	0.26087	-1.0113	10	0.07030	T	0.85	0.7684	16.7653	0.85522	0.0:0.0:1.0:0.0	.	297;306	B3KVG7;Q96MV8	.;ZDH15_HUMAN	A	306;297	ENSP00000362465:P306A;ENSP00000445420:P297A	ENSP00000362465:P306A	P	-	1	0	ZDHHC15	74553698	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.226000	0.89785	2.268000	0.75426	0.513000	0.50165	CCA		0.448	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		C	74636973	G	C	74636973	3	2	200	1	0	0	0	0	1	0	0	0	17605	1232	43	3	105	3	ZDHHC15	23	74636973	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09		74636973	80633587	124	11639											
TBX22	50945	genome.wustl.edu	37	X	79286132	79286132	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chrX:79286132C>A	ENST00000373294.5	+	8	1113	c.1085C>A	c.(1084-1086)gCa>gAa	p.A362E	TBX22_ENST00000373296.3_Missense_Mutation_p.A362E|TBX22_ENST00000373291.1_Missense_Mutation_p.A242E|TBX22_ENST00000442340.1_Missense_Mutation_p.A242E	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	362					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCCAGAGGCATACCTGCCC	0.473																																																0			X											162	143	150					X																	79286132		2203	4300	6503	79172788	SO:0001583	missense	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1085C>A	X.37:g.79286132C>A	ENSP00000362390:p.Ala362Glu		79172788	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	c	9.465	1.094146	0.20471	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.57	2.55	0.30701	.	.	.	.	.	T	0.56321	0.1977	N	0.22421	0.69	0.09310	N	1	B	0.28128	0.201	B	0.21917	0.037	T	0.38001	-0.9681	9	0.20519	T	0.43	.	1.5241	0.02522	0.1878:0.352:0.3201:0.1401	.	362	Q9Y458	TBX22_HUMAN	E	362;242;362;242	ENSP00000362393:A362E;ENSP00000396394:A242E;ENSP00000362390:A362E;ENSP00000362388:A242E	ENSP00000362388:A242E	A	+	2	0	TBX22	79172788	0.000000	0.05858	0.023000	0.16930	0.689000	0.40095	0.620000	0.24403	0.654000	0.30846	0.462000	0.41574	GCA		0.473	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		A	79286132	C	A	79286132	3	1	200	1	0	0	0	0	1	0	0	0	15658	710	25	3	1115	3	TBX22	23	79286132	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	4649159	79286132	75984428	125	11640											
ZCCHC18	644353	genome.wustl.edu	37	X	103359504	103359504	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chrX:103359504G>T	ENST00000537356.3	+	2	2116	c.702G>T	c.(700-702)agG>agT	p.R234S	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	234							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										GGCCGAAAAGGTCTGAGCCAA	0.493																																																0			X											32	25	27					X																	103359504		692	1591	2283	103246160	SO:0001583	missense	644353			AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	32459	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7B"		"zinc finger, CCHC domain containing 12 pseudogene 1"				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.702G>T	X.37:g.103359504G>T	ENSP00000473824:p.Arg234Ser		103246160		Missense_Mutation	SNP	ENST00000537356.3	37																																																																																					0.493	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978		T	103359504	G	T	103359504	3	4	200	1	0	0	0	0	1	0	0	0	17586	1252	44	3	704	3	ZCCHC18	23	103359504	Missense_Mutation	SNP	G	TCGA-23-2645-01A-01W-1091-09	24073372	103359504	51911056	126	11641											
ACTRT1	139741	genome.wustl.edu	37	X	127185519	127185519	+	Missense_Mutation	SNP	C	C	T	rs148603135	byFrequency	TCGA-23-2645-01A-01W-1091-09	TCGA-23-2645-10A-01W-1091-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1e852b4-62ce-4cfb-a0cf-9b90a7b7cbcb	63b76f9b-0709-46a2-808b-3467077a1de2	g.chrX:127185519C>T	ENST00000371124.3	-	1	863	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	223						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGCTCCAAGGCGATGTAGCAC	0.522													C|||	3	0.000794702	8e-04	0.0029	3775	,	,		14846	0		0	False		,,,				2504	0															0			X						C	THR/ALA	4,3831		0,2,2,1630,569	138	129	132		667	0.4	0	X	dbSNP_134	132	1,6727		0,1,0,2427,1872	yes	missense	ACTRT1	NM_138289.3	58	0,3,2,4057,2441	TT,TC,T,CC,C		0.0149,0.1043,0.0473	benign	223/377	127185519	5,10558	2203	4300	6503	127013200	SO:0001583	missense	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.667G>A	X.37:g.127185519C>T	ENSP00000360165:p.Ala223Thr		127013200	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.849	1.193166	0.22037	0.001043	1.49E-4	ENSG00000123165	ENST00000371124	D	0.94650	-3.48	3.48	0.355	0.16069	.	0.095573	0.43416	D	0.000565	D	0.90215	0.6941	M	0.77486	2.375	0.31131	N	0.707751	P	0.48016	0.904	B	0.36567	0.228	D	0.86187	0.1610	10	0.87932	D	0	.	2.2612	0.04068	0.2365:0.4823:0.162:0.1192	.	223	Q8TDG2	ACTT1_HUMAN	T	223	ENSP00000360165:A223T	ENSP00000360165:A223T	A	-	1	0	ACTRT1	127013200	0.733000	0.28132	0.001000	0.08648	0.241000	0.25554	1.356000	0.34079	-0.051000	0.13334	0.544000	0.68410	GCC		0.522	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		T	127185519	C	T	127185519	3	4	200	1	0	0	0	0	1	0	0	0	218	768	27	1	467	1	ACTRT1	23	127185519	Missense_Mutation	SNP	C	TCGA-23-2645-01A-01W-1091-09	23826015	127185519	28085041	127	11642											
PLA2G5	5322	genome.wustl.edu	37	1	20412612	20412612	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr1:20412612A>G	ENST00000375108.3	+	3	345	c.77A>G	c.(76-78)aAa>aGa	p.K26R	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	26					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CTGGACCTAAAATCAATGATC	0.602																																																0			1											107	91	96					1																	20412612		2203	4300	6503	20285199	SO:0001583	missense	5322			U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.77A>G	1.37:g.20412612A>G	ENSP00000364249:p.Lys26Arg		20285199	Q8N435	Missense_Mutation	SNP	ENST00000375108.3	37	CCDS202.1	.	.	.	.	.	.	.	.	.	.	A	3.518	-0.098420	0.07010	.	.	ENSG00000127472	ENST00000375108	T	0.27557	1.66	5.26	4.14	0.48551	Phospholipase A2 (3);	0.321300	0.26995	N	0.021451	T	0.15305	0.0369	N	0.12853	0.265	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.26360	-1.0105	10	0.15952	T	0.53	-20.3214	8.0773	0.30724	0.9079:0.0:0.0921:0.0	.	26	P39877	PA2G5_HUMAN	R	26	ENSP00000364249:K26R	ENSP00000364249:K26R	K	+	2	0	PLA2G5	20285199	0.002000	0.14202	0.026000	0.17262	0.010000	0.07245	0.302000	0.19192	0.954000	0.37851	0.533000	0.62120	AAA		0.602	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		G	20412612	A	G	20412612	3	3	201	1	0	0	0	0	1	0	0	0	12007	14	1	4	83	4	PLA2G5	1	20412612	Missense_Mutation	SNP	A	TCGA-23-2647-01A-01D-1526-09		20412612	228838009	1	11643											
ZDHHC18	84243	genome.wustl.edu	37	1	27180284	27180284	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr1:27180284C>G	ENST00000374142.4	+	8	1212	c.1117C>G	c.(1117-1119)Cca>Gca	p.P373A		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	373					cellular protein localization (GO:0034613)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		AAGCGATGAGCCAGCCTGCAG	0.597											OREG0013274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											196	182	187					1																	27180284		2203	4300	6503	27052871	SO:0001583	missense	84243			AK056427	CCDS30650.1	1p36.11	2008-05-02			ENSG00000204160	ENSG00000204160		"Zinc fingers, DHHC-type"	20712	protein-coding gene	gene with protein product							Standard	NM_032283		Approved	DKFZp667O2416	uc001bnb.3	Q9NUE0	OTTHUMG00000004092	ENST00000374142.4:c.1117C>G	1.37:g.27180284C>G	ENSP00000363257:p.Pro373Ala	792	27052871	A6NHY9|B4DQ84|Q5JYH0|Q9H020	Missense_Mutation	SNP	ENST00000374142.4	37	CCDS30650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.034|5.034	0.191872|0.191872	0.09547|0.09547	.|.	.|.	ENSG00000204160|ENSG00000204160	ENST00000488397|ENST00000374142;ENST00000374141	.|T;T	.|0.50001	.|0.95;0.76	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.531539	.|0.20517	.|N	.|0.090769	T|T	0.42675|0.42675	0.1213|0.1213	N|N	0.24115|0.24115	0.695|0.695	0.45867|0.45867	D|D	0.998722|0.998722	.|D	.|0.56521	.|0.976	.|P	.|0.47603	.|0.551	T|T	0.27571|0.27571	-1.0070|-1.0070	5|10	.|0.30854	.|T	.|0.27	.|.	18.1778|18.1778	0.89767|0.89767	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|373	.|Q9NUE0	.|ZDH18_HUMAN	G|A	137|373;238	.|ENSP00000363257:P373A;ENSP00000363256:P238A	.|ENSP00000363256:P238A	A|P	+|+	2|1	0|0	ZDHHC18|ZDHHC18	27052871|27052871	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.738000|0.738000	0.42128|0.42128	3.678000|3.678000	0.54627|0.54627	2.509000|2.509000	0.84616|0.84616	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.597	ZDHHC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011706.3	NM_032283		G	27180284	C	G	27180284	3	3	201	1	0	0	0	0	1	0	0	0	17608	739	26	3	1147	3	ZDHHC18	1	27180284	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	6767672	27180284	222070337	2	11644											
COL8A2	1296	genome.wustl.edu	37	1	36563246	36563246	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr1:36563246G>A	ENST00000397799.1	-	4	2260	c.2036C>T	c.(2035-2037)tCg>tTg	p.S679L	COL8A2_ENST00000303143.4_Missense_Mutation_p.S679L|COL8A2_ENST00000481785.1_Missense_Mutation_p.S614L			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	679	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCTGGTCCGACGGCATCTG	0.622																																																0			1											49	49	49					1																	36563246		2203	4300	6503	36335833	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.2036C>T	1.37:g.36563246G>A	ENSP00000380901:p.Ser679Leu		36335833	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837027	0.91117	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	T;T;T	0.75367	-0.93;-0.93;-0.93	5.05	5.05	0.67936	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	L	0.52573	1.65	0.80722	D	1	D	0.56035	0.974	P	0.56278	0.795	T	0.79848	-0.1630	10	0.44086	T	0.13	.	18.5973	0.91234	0.0:0.0:1.0:0.0	.	679	P25067	CO8A2_HUMAN	L	679;679;614;403	ENSP00000305913:S679L;ENSP00000380901:S679L;ENSP00000436433:S614L	ENSP00000305913:S679L	S	-	2	0	COL8A2	36335833	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.657000	0.98554	2.620000	0.88729	0.563000	0.77884	TCG		0.622	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		A	36563246	G	A	36563246	3	1	201	1	0	0	0	0	1	0	0	0	3706	1059	37	1	79	1	COL8A2	1	36563246	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09	9382962	36563246	212687375	3	11645											
LCE2C	353140	genome.wustl.edu	37	1	152648665	152648665	+	Silent	SNP	C	C	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr1:152648665C>A	ENST00000368783.1	+	2	229	c.174C>A	c.(172-174)ccC>ccA	p.P58P	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	58	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGG	0.662																																																0			1											81	92	88					1																	152648665		2203	4300	6503	150915289	SO:0001819	synonymous_variant	353140				CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.174C>A	1.37:g.152648665C>A			150915289		Silent	SNP	ENST00000368783.1	37	CCDS1019.1																																																																																				0.662	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		A	152648665	C	A	152648665	2	1	201	1	0	0	0	0	0	0	0	1	8667	581	21	3		3	LCE2C	1	152648665	Silent	SNP	C	TCGA-23-2647-01A-01D-1526-09	116085419	152648665	96601956	4	11646											
SLC19A2	10560	genome.wustl.edu	37	1	169454935	169454935	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr1:169454935G>C	ENST00000236137.5	-	1	306	c.70C>G	c.(70-72)Cgg>Ggg	p.R24G	SLC19A2_ENST00000367804.4_Missense_Mutation_p.R24G	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	24					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CGACGGACCCGAGCGGTCCGC	0.751																																																0			1											5	8	7					1																	169454935		1978	3836	5814	167721559	SO:0001583	missense	10560			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.70C>G	1.37:g.169454935G>C	ENSP00000236137:p.Arg24Gly		167721559	B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521344	0.44866	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.86497	-2.13;-1.59;-2.13	4.22	3.31	0.37934	.	0.334286	0.19875	N	0.104107	T	0.64789	0.2630	L	0.27053	0.805	0.27431	N	0.954006	B;B	0.34290	0.447;0.114	B;B	0.32624	0.149;0.071	T	0.58228	-0.7673	9	0.33940	T	0.23	-15.4959	9.2556	0.37581	0.1038:0.0:0.8962:0.0	.	24;24	O60779-2;O60779	.;S19A2_HUMAN	G	24	ENSP00000236137:R24G;ENSP00000356778:R24G;ENSP00000356776:R24G	ENSP00000236137:R24G	R	-	1	2	SLC19A2	167721559	0.962000	0.33011	0.198000	0.23420	0.004000	0.04260	2.578000	0.46051	0.975000	0.38392	-0.373000	0.07131	CGG		0.751	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		C	169454935	G	C	169454935	3	2	201	1	0	0	0	0	1	0	0	0	14432	1057	37	3	1447	3	SLC19A2	1	169454935	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09	16806270	169454935	79795686	5	11647											
PRG4	10216	genome.wustl.edu	37	1	186266037	186266037	+	Silent	SNP	G	G	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr1:186266037G>T	ENST00000445192.2	+	2	75	c.30G>T	c.(28-30)ctG>ctT	p.L10L	PRG4_ENST00000367485.4_Silent_p.L10L|PRG4_ENST00000367486.3_Silent_p.L10L|PRG4_ENST00000367483.4_Silent_p.L10L|PRG4_ENST00000367484.3_Silent_p.L10L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	10					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCATTTACCTGTTGTTGCTGC	0.368																																																0			1											209	159	176					1																	186266037		2203	4300	6503	184532660	SO:0001819	synonymous_variant	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.30G>T	1.37:g.186266037G>T			184532660	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																				0.368	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		T	186266037	G	T	186266037	2	4	201	1	0	0	0	0	0	0	0	1	12484	1364	48	3		3	PRG4	1	186266037	Silent	SNP	G	TCGA-23-2647-01A-01D-1526-09	16811102	186266037	62984584	6	11648											
MDM4	4194	genome.wustl.edu	37	1	204513713	204513713	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr1:204513713G>C	ENST00000367182.3	+	9	885	c.723G>C	c.(721-723)ttG>ttC	p.L241F	MDM4_ENST00000507825.2_Intron|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000454264.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	241					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGTGGTTTTTGAATGAGTCAG	0.368			A		"GBM, bladder, retinoblastoma"																																		Dom	yes		1	1q32	4194	Mdm4 p53 binding protein homolog		M	0			1											143	137	139					1																	204513713		2203	4300	6503	202780336	SO:0001583	missense	4194			AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"mouse double minute 4, human homolog of; p53-binding protein", "Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)", "Mdm4 p53 binding protein homolog (mouse)"			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.723G>C	1.37:g.204513713G>C	ENSP00000356150:p.Leu241Phe		202780336	Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	CCDS1447.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334468	0.41297	.	.	ENSG00000198625	ENST00000367182;ENST00000367179	T;T	0.10382	2.88;2.88	5.72	4.77	0.60923	.	0.069203	0.56097	N	0.000023	T	0.08626	0.0214	L	0.38175	1.15	0.80722	D	1	B	0.19583	0.037	B	0.22152	0.038	T	0.20974	-1.0259	10	0.34782	T	0.22	-1.762	5.9456	0.19217	0.1177:0.2675:0.6148:0.0	.	241	O15151	MDM4_HUMAN	F	241;126	ENSP00000356150:L241F;ENSP00000356147:L126F	ENSP00000356147:L126F	L	+	3	2	MDM4	202780336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.144000	0.42197	1.288000	0.44600	0.561000	0.74099	TTG		0.368	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393		C	204513713	G	C	204513713	3	2	201	1	0	0	0	0	1	0	0	0	9414	1281	45	3	753	3	MDM4	1	204513713	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09	18247676	204513713	44736908	7	11649											
ATF2	1386	genome.wustl.edu	37	2	175962273	175962273	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr2:175962273C>G	ENST00000264110.2	-	11	1175	c.877G>C	c.(877-879)Gat>Cat	p.D293H	ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.D235H|ATF2_ENST00000392544.1_Missense_Mutation_p.D293H|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409437.1_Missense_Mutation_p.D177H|ATF2_ENST00000409635.1_Missense_Mutation_p.D235H|ATF2_ENST00000538946.1_Missense_Mutation_p.D275H|ATF2_ENST00000426833.3_Missense_Mutation_p.D275H|ATF2_ENST00000409499.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	293					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	TTGACAGTATCACCATTGGTA	0.423																																					Pancreas(17;87 705 4534 15538 30988)											0			2											127	112	117					2																	175962273		2203	4300	6503	175670519	SO:0001583	missense	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.877G>C	2.37:g.175962273C>G	ENSP00000264110:p.Asp293His		175670519	A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190714	0.38707	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	T;T;T;T;T;T;T	0.77489	-1.1;0.48;-0.5;0.48;-1.1;-1.05;-0.65	5.58	4.71	0.59529	.	0.237648	0.40640	N	0.001051	T	0.78451	0.4285	L	0.56769	1.78	0.58432	D	0.999996	P;P;B;B	0.50819	0.61;0.939;0.044;0.196	B;P;B;B	0.48114	0.193;0.567;0.017;0.03	T	0.77130	-0.2701	10	0.33141	T	0.24	-8.7288	14.4841	0.67603	0.0:0.9295:0.0:0.0705	.	275;270;235;293	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	H	293;235;270;177;235;293;275;275	ENSP00000264110:D293H;ENSP00000340576:D235H;ENSP00000386326:D177H;ENSP00000387093:D235H;ENSP00000376327:D293H;ENSP00000407911:D275H;ENSP00000437952:D275H	ENSP00000264110:D293H	D	-	1	0	ATF2	175670519	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	4.328000	0.59253	1.365000	0.46057	-0.145000	0.13849	GAT		0.423	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		G	175962273	C	G	175962273	3	3	201	1	0	0	0	0	1	0	0	0	1080	826	29	3	656	3	ATF2	2	175962273	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09		175962273	67237100	8	11650											
C3orf20	84077	genome.wustl.edu	37	3	14769977	14769977	+	Missense_Mutation	SNP	G	G	C	rs144355189		TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr3:14769977G>C	ENST00000253697.3	+	12	2174	c.1722G>C	c.(1720-1722)aaG>aaC	p.K574N	C3orf20_ENST00000435614.1_Missense_Mutation_p.K452N|C3orf20_ENST00000412910.1_Missense_Mutation_p.K452N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	574						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCACCAAAAAGGAGGAGGAAG	0.473																																																0			3						G	ASN/LYS,ASN/LYS,ASN/LYS	0,4406		0,0,2203	79	80	80		1356,1356,1722	-4.7	0	3	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	94,94,94	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign,benign	452/783,452/783,574/905	14769977	1,13005	2203	4300	6503	14744981	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1722G>C	3.37:g.14769977G>C	ENSP00000253697:p.Lys574Asn		14744981	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	6.931	0.541528	0.13250	0.0	1.16E-4	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.10288	3.18;2.89;2.89	3.3	-4.71	0.03279	.	1.696370	0.03486	N	0.215871	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	1	B;B	0.30281	0.026;0.275	B;B	0.33196	0.017;0.159	T	0.31081	-0.9956	10	0.51188	T	0.08	-0.0763	5.5295	0.16976	0.5025:0.2802:0.2173:0.0	.	452;574	Q8ND61-2;Q8ND61	.;CC020_HUMAN	N	574;452;452	ENSP00000253697:K574N;ENSP00000402933:K452N;ENSP00000396081:K452N	ENSP00000253697:K574N	K	+	3	2	C3orf20	14744981	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.154000	0.16343	-1.318000	0.02289	-2.786000	0.00116	AAG		0.473	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		C	14769977	G	C	14769977	3	2	201	1	0	0	0	0	1	0	0	0	2213	991	35	3	1760	3	C3orf20	3	14769977	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09		14769977	183252453	9	11651											
WWTR1	25937	genome.wustl.edu	37	3	149290703	149290703	+	Silent	SNP	G	G	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr3:149290703G>A	ENST00000465804.1	-	4	772	c.516C>T	c.(514-516)gtC>gtT	p.V172V	WWTR1_ENST00000467467.1_Silent_p.V172V|WWTR1_ENST00000360632.3_Silent_p.V172V	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	172					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTGTGGAACTGACGGCAGGGT	0.418			T	CAMTA1	epitheliod hemangioendothelioma																																		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0			3											134	125	128					3																	149290703		2203	4300	6503	150773393	SO:0001819	synonymous_variant	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.516C>T	3.37:g.149290703G>A			150773393	D3DNH7|Q8N3P2|Q9Y3W6	Silent	SNP	ENST00000465804.1	37	CCDS3144.1																																																																																				0.418	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		A	149290703	G	A	149290703	2	1	201	1	0	0	0	0	0	0	0	1	17417	1277	45	2		2	WWTR1	3	149290703	Silent	SNP	G	TCGA-23-2647-01A-01D-1526-09	134520726	149290703	48731727	10	11652											
FAM194A	131831	genome.wustl.edu	37	3	150400031	150400031	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr3:150400031C>G	ENST00000295910.6	-	7	908	c.856G>C	c.(856-858)Gat>Cat	p.D286H	FAM194A_ENST00000491361.1_Missense_Mutation_p.D140H	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAGGAAACATCCACATTAGAA	0.353																																																0			3											82	83	83					3																	150400031		2203	4300	6503	151882721	SO:0001583	missense	131831																														ENST00000295910.6:c.856G>C	3.37:g.150400031C>G	ENSP00000295910:p.Asp286His		151882721		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631603	0.46944	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.16897	2.4;2.31	4.21	4.21	0.49690	.	0.105781	0.42172	D	0.000755	T	0.32645	0.0836	L	0.55481	1.735	0.19300	N	0.999975	D	0.69078	0.997	D	0.63877	0.919	T	0.03673	-1.1014	10	0.72032	D	0.01	-29.801	12.2659	0.54679	0.0:1.0:0.0:0.0	.	286	Q7L0X2	F194A_HUMAN	H	286;140;244	ENSP00000295910:D286H;ENSP00000419366:D140H	ENSP00000295910:D286H	D	-	1	0	FAM194A	151882721	0.913000	0.31002	0.323000	0.25347	0.032000	0.12392	2.226000	0.42963	2.342000	0.79632	0.561000	0.74099	GAT		0.353	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			G	150400031	C	G	150400031	3	3	201	1	0	0	0	0	1	0	0	0	5526	855	30	3	1167	3	FAM194A	3	150400031	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	1109328	150400031	47622399	11	11653											
ANKRA2	57763	genome.wustl.edu	37	5	72857055	72857055	+	Silent	SNP	G	G	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr5:72857055G>C	ENST00000296785.3	-	3	1006	c.348C>G	c.(346-348)acC>acG	p.T116T		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	116						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		TTGTAGAGGGGGTGTAGACAT	0.388																																																0			5											265	236	246					5																	72857055		2203	4300	6503	72892811	SO:0001819	synonymous_variant	57763			AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"Ankyrin repeat domain containing"	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.348C>G	5.37:g.72857055G>C			72892811		Silent	SNP	ENST00000296785.3	37	CCDS4020.1																																																																																				0.388	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039		C	72857055	G	C	72857055	2	2	201	1	0	0	0	0	0	0	0	1	636	1219	43	3		3	ANKRA2	5	72857055	Silent	SNP	G	TCGA-23-2647-01A-01D-1526-09		72857055	108058205	12	11654											
PCDHA2	56146	genome.wustl.edu	37	5	140175418	140175418	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr5:140175418A>C	ENST00000526136.1	+	1	869	c.869A>C	c.(868-870)cAg>cCg	p.Q290P	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Q290P|PCDHA2_ENST00000520672.2_Missense_Mutation_p.Q290P|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	290	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTATACAGACTAAGTTT	0.423																																																0			5											96	92	93					5																	140175418		2203	4300	6503	140155602	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.869A>C	5.37:g.140175418A>C	ENSP00000431748:p.Gln290Pro		140155602	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	8.651	0.898147	0.17686	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.51325	0.71;0.71;0.71	4.02	-3.95	0.04118	Cadherin (4);Cadherin-like (1);	1.388430	0.05725	U	0.598539	T	0.28532	0.0706	N	0.21324	0.655	0.09310	N	1	B;B;B	0.15141	0.012;0.009;0.012	B;B;B	0.24155	0.017;0.051;0.017	T	0.25082	-1.0142	10	0.40728	T	0.16	.	1.9859	0.03436	0.2772:0.3707:0.2303:0.1219	.	290;290;290	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	P	290	ENSP00000430584:Q290P;ENSP00000367372:Q290P;ENSP00000431748:Q290P	ENSP00000367372:Q290P	Q	+	2	0	PCDHA2	140155602	0.000000	0.05858	0.000000	0.03702	0.946000	0.59487	-0.247000	0.08866	-0.389000	0.07786	0.528000	0.53228	CAG		0.423	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		C	140175418	A	C	140175418	3	2	201	1	0	0	0	0	1	0	0	0	11524	188	7	5	871	5	PCDHA2	5	140175418	Missense_Mutation	SNP	A	TCGA-23-2647-01A-01D-1526-09	67318363	140175418	40739842	13	11655											
GMDS	2762	genome.wustl.edu	37	6	1930358	1930358	+	Silent	SNP	G	G	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr6:1930358G>C	ENST00000380815.4	-	7	1019	c.750C>G	c.(748-750)ggC>ggG	p.G250G	GMDS_ENST00000530927.1_Silent_p.G220G	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	250					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CCTTGGCATGGCCCCAATCTC	0.413																																																0			6											152	131	138					6																	1930358		2203	4300	6503	1875357	SO:0001819	synonymous_variant	2762			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.750C>G	6.37:g.1930358G>C			1875357	E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	37	CCDS4474.1																																																																																				0.413	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			C	1930358	G	C	1930358	2	2	201	1	0	0	0	0	0	0	0	1	6486	1190	42	3		3	GMDS	6	1930358	Silent	SNP	G	TCGA-23-2647-01A-01D-1526-09		1930358	169184709	14	11656											
RIPPLY2	134701	genome.wustl.edu	37	6	84563457	84563457	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr6:84563457A>C	ENST00000369689.1	+	2	290	c.139A>C	c.(139-141)Aaa>Caa	p.K47Q	RIPPLY2_ENST00000369687.1_5'UTR	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	47					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						CGGAGGCAAGAAAGAAGAGGA	0.677																																																0			6											24	32	29					6																	84563457		2200	4288	6488	84620176	SO:0001583	missense	134701			BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"chromosome 6 open reading frame 159", "ripply2 homolog (zebrafish)"	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.139A>C	6.37:g.84563457A>C	ENSP00000358703:p.Lys47Gln		84620176	Q5TAB6	Missense_Mutation	SNP	ENST00000369689.1	37	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.235992	0.22626	.	.	ENSG00000203877	ENST00000369689	.	.	.	3.94	-1.28	0.09318	.	1.500020	0.04543	N	0.388511	T	0.13970	0.0338	L	0.54323	1.7	0.09310	N	1	B	0.28636	0.218	B	0.30495	0.116	T	0.13388	-1.0511	9	0.13470	T	0.59	-3.5407	4.2173	0.10540	0.3756:0.2078:0.4166:0.0	.	47	Q5TAB7	RIPP2_HUMAN	Q	47	.	ENSP00000358703:K47Q	K	+	1	0	RIPPLY2	84620176	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-0.213000	0.09305	-0.088000	0.12506	0.374000	0.22700	AAA		0.677	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		C	84563457	A	C	84563457	3	2	201	1	0	0	0	0	1	0	0	0	13388	247	9	5	145	5	RIPPLY2	6	84563457	Missense_Mutation	SNP	A	TCGA-23-2647-01A-01D-1526-09	82633099	84563457	86551610	15	11657											
SYNE1	23345	genome.wustl.edu	37	6	152557382	152557382	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr6:152557382A>T	ENST00000367255.5	-	110	20857	c.20256T>A	c.(20254-20256)gaT>gaA	p.D6752E	SYNE1_ENST00000356820.4_Missense_Mutation_p.D1276E|SYNE1_ENST00000448038.1_Missense_Mutation_p.D6681E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D6364E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6752E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6681E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6752					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCGTTTCCCATCATCTAATA	0.333										HNSCC(10;0.0054)																																						0			6											122	118	120					6																	152557382		2203	4300	6503	152599075	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20256T>A	6.37:g.152557382A>T	ENSP00000356224:p.Asp6752Glu		152599075	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	5.634	0.301667	0.10678	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.76	0.696	0.18075	.	0.093021	0.46442	N	0.000292	T	0.07503	0.0189	L	0.28649	0.875	0.38415	D	0.946024	B;B;B	0.32781	0.266;0.266;0.384	B;B;B	0.36666	0.115;0.115;0.23	T	0.23119	-1.0197	10	0.02654	T	1	.	6.0148	0.19596	0.6716:0.1271:0.2013:0.0	.	6752;6752;6681	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	E	6752;6681;6752;6681;6364;1276	ENSP00000356224:D6752E;ENSP00000396024:D6681E;ENSP00000265368:D6752E;ENSP00000390975:D6681E;ENSP00000341887:D6364E;ENSP00000349276:D1276E	ENSP00000265368:D6752E	D	-	3	2	SYNE1	152599075	0.981000	0.34729	1.000000	0.80357	0.951000	0.60555	0.387000	0.20718	0.101000	0.17610	-0.290000	0.09829	GAT		0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152557382	A	T	152557382	3	4	201	1	0	0	0	0	1	0	0	0	15445	214	8	5	6358	5	SYNE1	6	152557382	Missense_Mutation	SNP	A	TCGA-23-2647-01A-01D-1526-09	67993925	152557382	18557685	16	11658											
SEPT14	346288	genome.wustl.edu	37	7	55863655	55863655	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr7:55863655T>G	ENST00000388975.3	-	10	1366	c.1250A>C	c.(1249-1251)cAg>cCg	p.Q417P		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	417					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGCTGAGTCTGCAGTGCTTC	0.393																																																0			7											75	95	88					7																	55863655		1373	2318	3691	55831149	SO:0001583	missense	346288			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1250A>C	7.37:g.55863655T>G	ENSP00000373627:p.Gln417Pro		55831149	A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	.	9.821	1.185777	0.21870	.	.	ENSG00000154997	ENST00000388975	D	0.82619	-1.63	1.32	-0.00979	0.13999	.	1.204540	0.06461	N	0.729379	T	0.78110	0.4232	L	0.55103	1.725	0.21579	N	0.999636	B	0.17852	0.024	B	0.19666	0.026	T	0.63910	-0.6530	10	0.62326	D	0.03	.	5.3994	0.16286	0.0:0.0:0.2897:0.7103	.	417	Q6ZU15	SEP14_HUMAN	P	417	ENSP00000373627:Q417P	ENSP00000373627:Q417P	Q	-	2	0	SEPT14	55831149	0.997000	0.39634	0.003000	0.11579	0.458000	0.32498	2.587000	0.46128	0.000000	0.14550	0.248000	0.18094	CAG		0.393	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		G	55863655	T	G	55863655	3	3	201	1	0	0	0	0	1	0	0	0	14066	1580	55	5	52	5	SEPT14	7	55863655	Missense_Mutation	SNP	T	TCGA-23-2647-01A-01D-1526-09		55863655	103275008	17	11659											
PPP1R3A	5506	genome.wustl.edu	37	7	113519201	113519201	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr7:113519201C>T	ENST00000284601.3	-	4	2014	c.1946G>A	c.(1945-1947)aGc>aAc	p.S649N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	649					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGCTGTGGGCTATTATCCTG	0.348																																																0			7											109	106	107					7																	113519201		2203	4299	6502	113306437	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1946G>A	7.37:g.113519201C>T	ENSP00000284601:p.Ser649Asn		113306437	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.814417	0.00600	.	.	ENSG00000154415	ENST00000284601	T	0.15139	2.45	6.01	0.318	0.15867	.	0.719956	0.13565	N	0.378485	T	0.02533	0.0077	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43909	-0.9362	10	0.08381	T	0.77	-0.4262	4.6439	0.12563	0.198:0.4096:0.0:0.3925	.	649	Q16821	PPR3A_HUMAN	N	649	ENSP00000284601:S649N	ENSP00000284601:S649N	S	-	2	0	PPP1R3A	113306437	0.260000	0.24053	0.001000	0.08648	0.002000	0.02628	0.494000	0.22467	0.164000	0.19529	-0.300000	0.09419	AGC		0.348	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113519201	C	T	113519201	3	4	201	1	0	0	0	0	1	0	0	0	12374	797	28	2	1426	2	PPP1R3A	7	113519201	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	57655546	113519201	45619462	18	11660											
ATP6V0A4	50617	genome.wustl.edu	37	7	138441222	138441222	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr7:138441222T>A	ENST00000310018.2	-	9	985	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.I235F|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.I235F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	235					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTCTTGATTTTCTGCCTG	0.393																																																0			7											214	216	215					7																	138441222		2203	4300	6503	138091762	SO:0001583	missense	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.703A>T	7.37:g.138441222T>A	ENSP00000308122:p.Ile235Phe		138091762	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985462	0.74589	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.87571	-2.27;-2.27;-2.27	5.45	0.184	0.15086	.	0.138564	0.49916	D	0.000134	D	0.93341	0.7877	H	0.94462	3.54	0.48087	D	0.999581	D	0.56968	0.978	P	0.61874	0.895	D	0.92078	0.5670	10	0.87932	D	0	-23.0236	9.7142	0.40265	0.0:0.2458:0.0:0.7542	.	235	Q9HBG4	VPP4_HUMAN	F	235	ENSP00000308122:I235F;ENSP00000376774:I235F;ENSP00000253856:I235F	ENSP00000308122:I235F	I	-	1	0	ATP6V0A4	138091762	0.882000	0.30256	0.990000	0.47175	0.996000	0.88848	1.156000	0.31712	-0.120000	0.11809	0.459000	0.35465	ATC		0.393	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		A	138441222	T	A	138441222	3	1	201	1	0	0	0	0	1	0	0	0	1170	1493	52	5	1875	5	ATP6V0A4	7	138441222	Missense_Mutation	SNP	T	TCGA-23-2647-01A-01D-1526-09	24922021	138441222	20697441	19	11661											
CNTNAP2	26047	genome.wustl.edu	37	7	146805326	146805326	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr7:146805326C>T	ENST00000361727.3	+	5	1154	c.638C>T	c.(637-639)gCc>gTc	p.A213V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	213					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATGTCATTGCCTTGAACTTT	0.388										HNSCC(39;0.1)																																						0			7											128	117	121					7																	146805326		2203	4300	6503	146436259	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.638C>T	7.37:g.146805326C>T	ENSP00000354778:p.Ala213Val		146436259	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170380	0.78452	.	.	ENSG00000174469	ENST00000361727	T	0.79033	-1.23	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.64402	D	0.000010	T	0.74733	0.3755	L	0.42245	1.32	0.80722	D	1	B	0.12013	0.005	B	0.17098	0.017	T	0.69124	-0.5228	10	0.72032	D	0.01	.	19.1533	0.93499	0.0:1.0:0.0:0.0	.	213	Q9UHC6	CNTP2_HUMAN	V	213	ENSP00000354778:A213V	ENSP00000354778:A213V	A	+	2	0	CNTNAP2	146436259	0.738000	0.28186	0.984000	0.44739	0.914000	0.54420	5.675000	0.68123	2.868000	0.98415	0.557000	0.71058	GCC		0.388	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	146805326	C	T	146805326	3	4	201	1	0	0	0	0	1	0	0	0	3647	739	26	2	656	2	CNTNAP2	7	146805326	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	8364104	146805326	12333337	20	11662											
PDIA4	9601	genome.wustl.edu	37	7	148702414	148702414	+	Silent	SNP	C	C	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr7:148702414C>T	ENST00000286091.4	-	9	1573	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	447					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CAAAGGTGTACTCAGGGAAGT	0.587											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			7											148	126	133					7																	148702414		2203	4300	6503	148333347	SO:0001819	synonymous_variant	9601			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1341G>A	7.37:g.148702414C>T		1719	148333347	A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	CCDS5893.1																																																																																				0.587	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		T	148702414	C	T	148702414	2	4	201	1	0	0	0	0	0	0	0	1	11670	564	20	2		2	PDIA4	7	148702414	Silent	SNP	C	TCGA-23-2647-01A-01D-1526-09	1897088	148702414	10436249	21	11663											
ZNF282	8427	genome.wustl.edu	37	7	148895804	148895804	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr7:148895804T>G	ENST00000262085.3	+	2	650	c.545T>G	c.(544-546)gTc>gGc	p.V182G	ZNF282_ENST00000479907.1_Missense_Mutation_p.V182G	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	182					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AACTTCTGGGTCCTGCGGCTG	0.632																																																0			7											44	54	51					7																	148895804		2203	4299	6502	148526737	SO:0001583	missense	8427			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.545T>G	7.37:g.148895804T>G	ENSP00000262085:p.Val182Gly		148526737	B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665035	0.67700	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.08193	3.12;4.83	4.11	4.11	0.48088	.	0.000000	0.38436	N	0.001697	T	0.16471	0.0396	L	0.42245	1.32	0.58432	D	0.999994	D;P;P;D	0.67145	0.996;0.938;0.938;0.964	P;P;P;P	0.60541	0.876;0.478;0.601;0.601	T	0.00617	-1.1642	10	0.87932	D	0	-28.8088	9.7671	0.40567	0.0:0.0:0.0:1.0	.	182;133;154;182	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	G	97;182;182	ENSP00000262085:V182G;ENSP00000418840:V182G	ENSP00000262085:V182G	V	+	2	0	ZNF282	148526737	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	4.593000	0.61034	1.640000	0.50565	0.260000	0.18958	GTC		0.632	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		G	148895804	T	G	148895804	3	3	201	1	0	0	0	0	1	0	0	0	17819	1667	58	5	551	5	ZNF282	7	148895804	Missense_Mutation	SNP	T	TCGA-23-2647-01A-01D-1526-09	193390	148895804	10242859	22	11664											
PDLIM2	64236	genome.wustl.edu	37	8	22442878	22442878	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr8:22442878G>C	ENST00000397760.4	+	6	906	c.506G>C	c.(505-507)cGc>cCc	p.R169P	PDLIM2_ENST00000409141.1_Missense_Mutation_p.R169P|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R169P|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397761.2_Missense_Mutation_p.R169P|PDLIM2_ENST00000339162.7_Missense_Mutation_p.R169P|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R419P|PDLIM2_ENST00000265810.4_Missense_Mutation_p.R169P			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	169						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTGCTGACCGCCTGTCCTAC	0.667																																																0			8											34	26	29					8																	22442878		2202	4300	6502	22498823	SO:0001583	missense	64236			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.506G>C	8.37:g.22442878G>C	ENSP00000380867:p.Arg169Pro		22498823	D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37		.	.	.	.	.	.	.	.	.	.	G	16.04	3.009095	0.54361	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000397761;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T	0.25250	2.03;3.54;2.61;2.61;2.61;2.61;1.85;1.81;2.61;2.7;2.61	5.51	-3.19	0.05171	.	0.740175	0.12294	N	0.481829	T	0.23451	0.0567	L	0.56769	1.78	0.09310	N	1	P;B;B;B	0.47604	0.898;0.001;0.001;0.001	P;B;B;B	0.45712	0.491;0.003;0.002;0.002	T	0.15009	-1.0452	10	0.44086	T	0.13	-7.5445	5.3312	0.15934	0.4899:0.2835:0.2266:0.0	.	169;169;169;169	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	P	169;419;169;169;169;169;169;169;169;169;169	ENSP00000401992:R169P;ENSP00000312634:R419P;ENSP00000394376:R169P;ENSP00000380867:R169P;ENSP00000342035:R169P;ENSP00000380868:R169P;ENSP00000392920:R169P;ENSP00000407643:R169P;ENSP00000386868:R169P;ENSP00000265810:R169P;ENSP00000387084:R169P	ENSP00000265810:R169P	R	+	2	0	PDLIM2	22498823	0.000000	0.05858	0.006000	0.13384	0.712000	0.41017	-0.453000	0.06778	-0.211000	0.10124	0.561000	0.74099	CGC		0.667	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			C	22442878	G	C	22442878	3	2	201	1	0	0	0	0	1	0	0	0	11680	1087	38	3	524	3	PDLIM2	8	22442878	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09		22442878	123921144	23	11665											
FAM120A	23196	genome.wustl.edu	37	9	96233573	96233573	+	Missense_Mutation	SNP	G	G	C	rs371528215		TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr9:96233573G>C	ENST00000277165.6	+	2	819	c.625G>C	c.(625-627)Ggg>Cgg	p.G209R	FAM120A_ENST00000375389.3_Missense_Mutation_p.G209R|FAM120A_ENST00000340893.4_Missense_Mutation_p.G209R|FAM120A_ENST00000333936.5_Missense_Mutation_p.G209R	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	209						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGCCGGAACGGGAAAAGTCT	0.458																																																0			9											163	138	147					9																	96233573		2203	4300	6503	95273394	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.625G>C	9.37:g.96233573G>C	ENSP00000277165:p.Gly209Arg		95273394	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153219	0.78114	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.14	4.23	0.50019	.	0.000000	0.64402	D	0.000001	T	0.65984	0.2744	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.977;1.0	T	0.70949	-0.4733	10	0.87932	D	0	-14.0476	15.5469	0.76108	0.0:0.0:0.861:0.139	.	209;209	Q9NZB2;Q9NZB2-2	F120A_HUMAN;.	R	209	ENSP00000364538:G209R;ENSP00000277165:G209R;ENSP00000334918:G209R;ENSP00000344698:G209R	ENSP00000277165:G209R	G	+	1	0	FAM120A	95273394	1.000000	0.71417	0.981000	0.43875	0.802000	0.45316	9.389000	0.97243	1.522000	0.49001	-0.169000	0.13324	GGG		0.458	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		C	96233573	G	C	96233573	3	2	201	1	0	0	0	0	1	0	0	0	5415	1116	39	3	631	3	FAM120A	9	96233573	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09		96233573	44979858	24	11666											
INPP5F	22876	genome.wustl.edu	37	10	121551040	121551040	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr10:121551040G>T	ENST00000361976.2	+	4	493	c.327G>T	c.(325-327)aaG>aaT	p.K109N	INPP5F_ENST00000369083.3_Missense_Mutation_p.K109N|INPP5F_ENST00000369081.1_Missense_Mutation_p.K13N	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TCTGTAAGAAGCATCATTTTG	0.353																																																0			10											106	111	110					10																	121551040		2203	4298	6501	121541030	SO:0001583	missense	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.327G>T	10.37:g.121551040G>T	ENSP00000354519:p.Lys109Asn		121541030	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319929	0.60634	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T	0.60299	0.73;0.2	5.63	4.72	0.59763	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	L	0.53671	1.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.70375	-0.4889	10	0.66056	D	0.02	-27.6384	9.2076	0.37298	0.2659:0.0:0.7341:0.0	.	109;109	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	N	109;109;13	ENSP00000354519:K109N;ENSP00000358079:K109N	ENSP00000354519:K109N	K	+	3	2	INPP5F	121541030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.210000	0.51129	1.513000	0.48852	-0.145000	0.13849	AAG		0.353	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		T	121551040	G	T	121551040	3	4	201	1	0	0	0	0	1	0	0	0	7758	962	34	3	341	3	INPP5F	10	121551040	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09		121551040	13983707	25	11667											
MUC6	4588	genome.wustl.edu	37	11	1016960	1016960	+	Silent	SNP	G	G	T	rs113980831		TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr11:1016960G>T	ENST00000421673.2	-	31	5891	c.5841C>A	c.(5839-5841)acC>acA	p.T1947T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1947	Approximate repeats.|Thr-rich.			NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGGGTTCTGGTGCCTGTAC	0.572																																																0			11											516	536	529					11																	1016960		2200	4292	6492	1006960	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5841C>A	11.37:g.1016960G>T			1006960	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1016960	G	T	1016960	2	4	201	1	0	0	0	0	0	0	0	1	9980	1335	47	3		3	MUC6	11	1016960	Silent	SNP	G	TCGA-23-2647-01A-01D-1526-09		1016960	133989556	26	11668											
NLRP14	338323	genome.wustl.edu	37	11	7091590	7091590	+	Missense_Mutation	SNP	A	A	C	rs199475889		TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr11:7091590A>C	ENST00000299481.4	+	11	3395	c.3049A>C	c.(3049-3051)Ata>Cta	p.I1017L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1017					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAAAAGACTGATAAAAATGAA	0.363																																																0			11											101	100	100					11																	7091590		2201	4296	6497	7048166	SO:0001583	missense	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.3049A>C	11.37:g.7091590A>C	ENSP00000299481:p.Ile1017Leu		7048166	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	8.646	0.897225	0.17686	.	.	ENSG00000158077	ENST00000299481	T	0.41065	1.01	4.13	1.83	0.25207	.	0.841768	0.10382	N	0.681446	T	0.32315	0.0825	L	0.41961	1.31	0.19300	N	0.999979	B	0.12013	0.005	B	0.08055	0.003	T	0.26780	-1.0093	10	0.48119	T	0.1	.	5.5578	0.17125	0.7776:0.0:0.2224:0.0	.	1017	Q86W24	NAL14_HUMAN	L	1017	ENSP00000299481:I1017L	ENSP00000299481:I1017L	I	+	1	0	NLRP14	7048166	0.545000	0.26449	0.046000	0.18839	0.087000	0.18053	0.901000	0.28445	0.404000	0.25506	0.455000	0.32223	ATA		0.363	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		C	7091590	A	C	7091590	3	2	201	1	0	0	0	0	1	0	0	0	10476	333	12	5	3087	5	NLRP14	11	7091590	Missense_Mutation	SNP	A	TCGA-23-2647-01A-01D-1526-09	6074630	7091590	127914926	27	11669											
MRGPRX3	117195	genome.wustl.edu	37	11	18159377	18159377	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr11:18159377C>A	ENST00000396275.2	+	3	989	c.628C>A	c.(628-630)Ccg>Acg	p.P210T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCGGAAGATGCCGCTGACCAG	0.547																																																0			11											113	106	108					11																	18159377		2200	4293	6493	18115953	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.628C>A	11.37:g.18159377C>A	ENSP00000379571:p.Pro210Thr		18115953	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228176	0.22542	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.36699	1.24;1.24	1.46	0.326	0.15908	GPCR, rhodopsin-like superfamily (1);	0.845766	0.10294	N	0.692007	T	0.57592	0.2064	M	0.88640	2.97	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.43814	-0.9368	10	0.56958	D	0.05	.	1.9069	0.03279	0.3259:0.4559:0.0:0.2181	.	210	Q96LB0	MRGX3_HUMAN	T	210	ENSP00000379571:P210T;ENSP00000436242:P210T	ENSP00000379571:P210T	P	+	1	0	MRGPRX3	18115953	0.010000	0.17322	0.003000	0.11579	0.001000	0.01503	2.415000	0.44635	0.095000	0.17434	0.430000	0.28490	CCG		0.547	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		A	18159377	C	A	18159377	3	1	201	1	0	0	0	0	1	0	0	0	9768	739	26	3	630	3	MRGPRX3	11	18159377	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	11067787	18159377	116847139	28	11670											
OR5M9	390162	genome.wustl.edu	37	11	56230434	56230434	+	Silent	SNP	G	G	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr11:56230434G>C	ENST00000279791.1	-	1	443	c.444C>G	c.(442-444)gtC>gtG	p.V148V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGAATCCATAGACATAAGGCA	0.453																																																0			11											99	100	100					11																	56230434		2201	4296	6497	55987010	SO:0001819	synonymous_variant	390162			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.444C>G	11.37:g.56230434G>C			55987010	Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	CCDS31531.1																																																																																				0.453	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		C	56230434	G	C	56230434	2	2	201	1	0	0	0	0	0	0	0	1	11177	929	33	3		3	OR5M9	11	56230434	Silent	SNP	G	TCGA-23-2647-01A-01D-1526-09	38071057	56230434	78776082	29	11671											
C11orf67	28971	genome.wustl.edu	37	11	77553635	77553635	+	Silent	SNP	G	G	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr11:77553635G>T	ENST00000526415.1	+	3	266	c.93G>T	c.(91-93)ggG>ggT	p.G31G	AAMDC_ENST00000525034.1_Silent_p.G50G|AAMDC_ENST00000527134.1_Silent_p.G31G|AAMDC_ENST00000525409.1_Silent_p.G31G|AAMDC_ENST00000533193.1_Silent_p.G31G|AAMDC_ENST00000304716.8_Silent_p.G31G|AAMDC_ENST00000532481.1_Silent_p.G31G|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000393427.2_Silent_p.G31G			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	31	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											TATGGCCAGGGGGTAGTCGGA	0.428																																																0			11											70	68	69					11																	77553635		2200	4292	6492	77231283	SO:0001819	synonymous_variant	28971			BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 67"	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.93G>T	11.37:g.77553635G>T			77231283	Q96AQ4|Q9Y6B1	Silent	SNP	ENST00000526415.1	37	CCDS8254.1																																																																																				0.428	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684		T	77553635	G	T	77553635	2	4	201	1	0	0	0	0	0	0	0	1	1657	1219	43	3		3	C11orf67	11	77553635	Silent	SNP	G	TCGA-23-2647-01A-01D-1526-09	21323201	77553635	57452881	30	11672											
IL10RA	3587	genome.wustl.edu	37	11	117869480	117869480	+	Silent	SNP	A	A	T	rs143169554		TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr11:117869480A>T	ENST00000227752.3	+	7	981	c.861A>T	c.(859-861)ccA>ccT	p.P287P	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Silent_p.P138P|IL10RA_ENST00000541785.1_Silent_p.P267P	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	287					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GTCCCTCCCCAGAGACCCAAG	0.582																																																0			11											91	73	79					11																	117869480		2200	4296	6496	117374690	SO:0001819	synonymous_variant	3587			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.861A>T	11.37:g.117869480A>T			117374690	A8K6I0|B0YJ27	Silent	SNP	ENST00000227752.3	37	CCDS8388.1																																																																																				0.582	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			T	117869480	A	T	117869480	2	4	201	1	0	0	0	0	0	0	0	1	7620	175	7	5		5	IL10RA	11	117869480	Silent	SNP	A	TCGA-23-2647-01A-01D-1526-09	40315845	117869480	17137036	31	11673											
FOXM1	2305	genome.wustl.edu	37	12	2968344	2968344	+	Silent	SNP	A	A	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr12:2968344A>G	ENST00000359843.3	-	9	1820	c.1752T>C	c.(1750-1752)ccT>ccC	p.P584P	FOXM1_ENST00000361953.3_Silent_p.P569P|Y_RNA_ENST00000410561.1_RNA|ITFG2_ENST00000545509.1_Intron|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000342628.2_Silent_p.P622P	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	584					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GCTGGGAGGCAGGGTCAGAGG	0.612																																																0			12											42	48	46					12																	2968344		2196	4290	6486	2838605	SO:0001819	synonymous_variant	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1752T>C	12.37:g.2968344A>G			2838605	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1																																																																																				0.612	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		G	2968344	A	G	2968344	2	3	201	1	0	0	0	0	0	0	0	1	6018	175	7	4		4	FOXM1	12	2968344	Silent	SNP	A	TCGA-23-2647-01A-01D-1526-09		2968344	130883551	32	11674											
FGF23	8074	genome.wustl.edu	37	12	4479675	4479675	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr12:4479675G>T	ENST00000237837.1	-	3	735	c.590C>A	c.(589-591)gCc>gAc	p.A197D		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	197					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.A197V(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGTCATCCGGGCCCGGGGCTT	0.687																																																1	Substitution - Missense(1)	skin(1)	12											16	20	19					12																	4479675		2191	4291	6482	4349936	SO:0001583	missense	8074			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.590C>A	12.37:g.4479675G>T	ENSP00000237837:p.Ala197Asp		4349936	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	0.692	-0.794072	0.02862	.	.	ENSG00000118972	ENST00000237837	D	0.94280	-3.39	4.84	2.02	0.26589	.	0.835496	0.11122	N	0.597373	D	0.84428	0.5470	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.67043	-0.5770	10	0.06891	T	0.86	-10.1763	8.2474	0.31698	0.2528:0.0:0.7472:0.0	.	197	Q9GZV9	FGF23_HUMAN	D	197	ENSP00000237837:A197D	ENSP00000237837:A197D	A	-	2	0	FGF23	4349936	0.992000	0.36948	0.224000	0.23877	0.010000	0.07245	0.581000	0.23819	0.244000	0.21351	-0.272000	0.10252	GCC		0.687	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			T	4479675	G	T	4479675	3	4	201	1	0	0	0	0	1	0	0	0	5852	1203	42	3	169	3	FGF23	12	4479675	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09	1511331	4479675	129372220	33	11675											
LPCAT3	10162	genome.wustl.edu	37	12	7087774	7087774	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr12:7087774C>G	ENST00000261407.4	-	8	949	c.864G>C	c.(862-864)tgG>tgC	p.W288C	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	288					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CTGTGACCAGCCAACAGGTGA	0.498																																																0			12											103	95	98					12																	7087774		2203	4300	6503	6958035	SO:0001583	missense	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.864G>C	12.37:g.7087774C>G	ENSP00000261407:p.Trp288Cys		6958035	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320683	0.81469	.	.	ENSG00000111684	ENST00000261407	T	0.73363	-0.74	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89726	0.6798	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91518	0.5232	10	0.87932	D	0	-10.4171	19.5899	0.95506	0.0:1.0:0.0:0.0	.	288	Q6P1A2	MBOA5_HUMAN	C	288	ENSP00000261407:W288C	ENSP00000261407:W288C	W	-	3	0	LPCAT3	6958035	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.376000	0.79658	2.612000	0.88384	0.655000	0.94253	TGG		0.498	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		G	7087774	C	G	7087774	3	3	201	1	0	0	0	0	1	0	0	0	8912	740	26	3	619	3	LPCAT3	12	7087774	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	2608099	7087774	126764121	34	11676											
OR4K17	390436	genome.wustl.edu	37	14	20586281	20586281	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr14:20586281T>A	ENST00000315543.4	+	1	716	c.716T>A	c.(715-717)cTg>cAg	p.L239Q		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATAATCTCCCTGAGCTGTTTC	0.413																																																0			14											164	156	159					14																	20586281		2203	4300	6503	19656121	SO:0001583	missense	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.716T>A	14.37:g.20586281T>A	ENSP00000319197:p.Leu239Gln		19656121	Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.355977	0.24598	.	.	ENSG00000176230	ENST00000315543	T	0.45276	0.9	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.243452	0.19358	U	0.116201	T	0.66297	0.2775	M	0.91406	3.205	0.09310	N	1	D	0.53462	0.96	P	0.62885	0.908	T	0.58989	-0.7538	10	0.87932	D	0	.	10.2538	0.43385	0.0:0.0:0.0:1.0	.	211	Q8NGC6	OR4KH_HUMAN	Q	239	ENSP00000319197:L239Q	ENSP00000319197:L239Q	L	+	2	0	OR4K17	19656121	0.010000	0.17322	0.926000	0.36857	0.211000	0.24417	2.014000	0.40951	1.292000	0.44672	0.332000	0.21555	CTG		0.413	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			A	20586281	T	A	20586281	3	1	201	1	0	0	0	0	1	0	0	0	11071	1580	55	5	718	5	OR4K17	14	20586281	Missense_Mutation	SNP	T	TCGA-23-2647-01A-01D-1526-09		20586281	86763259	35	11677											
POLE2	5427	genome.wustl.edu	37	14	50131833	50131833	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr14:50131833T>G	ENST00000216367.5	-	8	724	c.625A>C	c.(625-627)Agt>Cgt	p.S209R	POLE2_ENST00000539565.2_Missense_Mutation_p.S183R|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.S209R	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	209					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	ATAGCTTTACTAAGGTCTAGT	0.294																																																0			14											48	48	48					14																	50131833		2200	4291	6491	49201583	SO:0001583	missense	5427			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.625A>C	14.37:g.50131833T>G	ENSP00000216367:p.Ser209Arg		49201583	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704496	0.68615	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.36157	1.68;1.7;1.27	5.28	5.28	0.74379	.	0.324215	0.40908	D	0.000998	T	0.44350	0.1289	M	0.78285	2.405	0.45108	D	0.998125	P	0.40970	0.734	B	0.40101	0.319	T	0.51212	-0.8734	10	0.54805	T	0.06	-11.7366	15.5126	0.75795	0.0:0.0:0.0:1.0	.	209	P56282	DPOE2_HUMAN	R	209;183;209	ENSP00000216367:S209R;ENSP00000446313:S183R;ENSP00000451621:S209R	ENSP00000216367:S209R	S	-	1	0	POLE2	49201583	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.025000	0.70864	2.136000	0.66102	0.454000	0.30748	AGT		0.294	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		G	50131833	T	G	50131833	3	3	201	1	0	0	0	0	1	0	0	0	12197	1522	53	5	1006	5	POLE2	14	50131833	Missense_Mutation	SNP	T	TCGA-23-2647-01A-01D-1526-09	29545552	50131833	57217707	36	11678											
ASB2	51676	genome.wustl.edu	37	14	94413738	94413738	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr14:94413738C>T	ENST00000315988.4	-	5	1353	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	ASB2_ENST00000556337.1_Intron|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Missense_Mutation_p.G337S	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	289					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGGAGCAAGCCGTCCTTGTTG	0.622																																																0			14											192	152	165					14																	94413738		2203	4300	6503	93483491	SO:0001583	missense	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.865G>A	14.37:g.94413738C>T	ENSP00000320675:p.Gly289Ser		93483491	B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573766	0.96553	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;D;T	0.86297	1.62;-2.1;-1.12	5.19	5.19	0.71726	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.93861	0.8036	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94554	0.7756	10	0.87932	D	0	-10.2576	18.7174	0.91680	0.0:1.0:0.0:0.0	.	305;337;289	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	S	337;305;289;235;235	ENSP00000451575:G337S;ENSP00000320675:G289S;ENSP00000450940:G235S	ENSP00000320675:G289S	G	-	1	0	ASB2	93483491	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	7.818000	0.86416	2.417000	0.82017	0.462000	0.41574	GGC		0.622	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			T	94413738	C	T	94413738	3	4	201	1	0	0	0	0	1	0	0	0	1023	652	23	1	914	1	ASB2	14	94413738	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	44281905	94413738	12935802	37	11679											
JAG2	3714	genome.wustl.edu	37	14	105614675	105614675	+	Missense_Mutation	SNP	T	T	C	rs200164540		TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr14:105614675T>C	ENST00000331782.3	-	16	2525	c.2122A>G	c.(2122-2124)Acc>Gcc	p.T708A	JAG2_ENST00000347004.2_Missense_Mutation_p.T670A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	708	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAGTGGCAGGTCTTGCCCTTC	0.692																																																0			14											20	18	19					14																	105614675		2192	4281	6473	104685720	SO:0001583	missense	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2122A>G	14.37:g.105614675T>C	ENSP00000328169:p.Thr708Ala		104685720	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496870	0.85069	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.94457	-3.43;-3.43	4.73	4.73	0.59995	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.057421	0.64402	D	0.000002	D	0.96321	0.8800	M	0.73319	2.225	0.41950	D	0.990653	D;D	0.62365	0.988;0.991	D;D	0.68353	0.957;0.942	D	0.96549	0.9406	10	0.62326	D	0.03	.	12.1399	0.53993	0.0:0.0:0.0:1.0	.	670;708	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	A	708;670	ENSP00000328169:T708A;ENSP00000328566:T670A	ENSP00000328169:T708A	T	-	1	0	JAG2	104685720	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.709000	0.47160	1.756000	0.51951	0.397000	0.26171	ACC		0.692	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			C	105614675	T	C	105614675	3	2	201	1	0	0	0	0	1	0	0	0	7935	1667	58	4	1638	4	JAG2	14	105614675	Missense_Mutation	SNP	T	TCGA-23-2647-01A-01D-1526-09	11200937	105614675	1734865	38	11680											
A2BP1	54715	genome.wustl.edu	37	16	7383021	7383021	+	Intron	SNP	G	G	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr16:7383021G>T	ENST00000550418.1	+	5	1015				RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V7F|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V7F|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V7F|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000547372.1_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTCTCAAGGAGTTCTCCTGCA	0.478																																					Ovarian(157;934 2567 15163 39509)											0			16											232	188	203					16																	7383021		2197	4300	6497	7323022	SO:0001627	intron_variant	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-185128G>T	16.37:g.7383021G>T			7323022	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340592	0.41498	.	.	ENSG00000078328	ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951	T;T;T	0.32988	1.43;1.63;1.59	5.75	4.77	0.60923	.	0.773898	0.11888	N	0.519903	T	0.17619	0.0423	N	0.14661	0.345	0.80722	D	1	B;B;P;B	0.43701	0.275;0.403;0.815;0.403	B;B;B;B	0.37047	0.082;0.112;0.24;0.112	T	0.02676	-1.1125	10	0.87932	D	0	-5.5015	7.2681	0.26242	0.1417:0.1437:0.7147:0.0	.	7;7;7;7	F8WAC5;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5	.;.;.;.	F	7	ENSP00000402745:V7F;ENSP00000309117:V7F;ENSP00000347855:V7F	ENSP00000309117:V7F	V	+	1	0	RBFOX1	7323022	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.325000	0.43840	1.375000	0.46248	0.650000	0.86243	GTT		0.478	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		T	7383021	G	T	7383021	1	4	201	0	1	0	0	0	0	0	0	0	3	1029	36	3		3	A2BP1	16	7383021	Intron	SNP	G	TCGA-23-2647-01A-01D-1526-09		7383021	82971732	39	11681											
C16orf72	29035	genome.wustl.edu	37	16	9186847	9186847	+	Missense_Mutation	SNP	A	A	G	rs374431071		TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr16:9186847A>G	ENST00000327827.7	+	2	693	c.296A>G	c.(295-297)aAt>aGt	p.N99S		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	99										endometrium(4)|large_intestine(2)|lung(2)	8						GCCGTCACCAATCTCTACAAA	0.522																																																0			16						A	SER/ASN	0,4394		0,0,2197	44	39	41		296	1.8	1	16		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	C16orf72	NM_014117.2	46	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign	99/276	9186847	1,12993	2197	4300	6497	9094348	SO:0001583	missense	29035			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.296A>G	16.37:g.9186847A>G	ENSP00000331720:p.Asn99Ser		9094348		Missense_Mutation	SNP	ENST00000327827.7	37	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	A	9.574	1.121799	0.20877	0.0	1.16E-4	ENSG00000182831	ENST00000327827	T	0.37235	1.21	4.09	1.84	0.25277	.	0.045909	0.85682	D	0.000000	T	0.11623	0.0283	N	0.02960	-0.455	0.53688	D	0.999979	B	0.09022	0.002	B	0.09377	0.004	T	0.30880	-0.9963	10	0.02654	T	1	-1.6693	7.9382	0.29941	0.829:0.0:0.171:0.0	.	99	Q14CZ0	CP072_HUMAN	S	99	ENSP00000331720:N99S	ENSP00000331720:N99S	N	+	2	0	C16orf72	9094348	1.000000	0.71417	0.991000	0.47740	0.954000	0.61252	8.938000	0.92943	0.167000	0.19631	-0.250000	0.11733	AAT		0.522	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		G	9186847	A	G	9186847	3	3	201	1	0	0	0	0	1	0	0	0	1831	101	4	4	302	4	C16orf72	16	9186847	Missense_Mutation	SNP	A	TCGA-23-2647-01A-01D-1526-09	1803826	9186847	81167906	40	11682											
C16orf58	64755	genome.wustl.edu	37	16	31503377	31503377	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr16:31503377T>C	ENST00000327237.2	-	12	1301	c.1262A>G	c.(1261-1263)aAg>aGg	p.K421R	C16orf58_ENST00000567994.1_Missense_Mutation_p.K376R|C16orf58_ENST00000570164.1_Missense_Mutation_p.K419R			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	421						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GTGTGTCTCCTTGACGACGAC	0.567																																																0			16											95	75	82					16																	31503377		2197	4300	6497	31410878	SO:0001583	missense	64755			AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.1262A>G	16.37:g.31503377T>C	ENSP00000317579:p.Lys421Arg		31410878	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	T	4.227	0.041085	0.08196	.	.	ENSG00000140688	ENST00000327237;ENST00000452223	T	0.44083	0.93	4.94	-3.88	0.04205	.	0.816876	0.11866	N	0.521856	T	0.15262	0.0368	N	0.02011	-0.69	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.10450	0.001;0.005	T	0.26849	-1.0091	10	0.15066	T	0.55	-10.6564	12.7517	0.57312	0.0:0.7891:0.0:0.2109	.	421;159	Q96GQ5;Q96GQ5-2	CP058_HUMAN;.	R	421;375	ENSP00000317579:K421R	ENSP00000317579:K421R	K	-	2	0	C16orf58	31410878	0.478000	0.25917	0.681000	0.30009	0.016000	0.09150	-0.641000	0.05434	-0.790000	0.04492	-0.256000	0.11100	AAG		0.567	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		C	31503377	T	C	31503377	3	2	201	1	0	0	0	0	1	0	0	0	1822	1609	56	4	152	4	C16orf58	16	31503377	Missense_Mutation	SNP	T	TCGA-23-2647-01A-01D-1526-09	22316530	31503377	58851376	41	11683											
EXOC3L	283849	genome.wustl.edu	37	16	67222695	67222695	+	Missense_Mutation	SNP	G	G	A	rs141404625		TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr16:67222695G>A	ENST00000314586.6	-	4	596	c.356C>T	c.(355-357)cCc>cTc	p.P119L	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	119	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTCCCGTAGGGGCTCTAGAGT	0.682																																																0			16						G	LEU/PRO	0,4396		0,0,2198	45	47	46		356	5.7	0.7	16	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	missense	EXOC3L1	NM_178516.3	98	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	119/747	67222695	1,12995	2198	4300	6498	65780196	SO:0001583	missense	283849			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.356C>T	16.37:g.67222695G>A	ENSP00000325674:p.Pro119Leu		65780196	A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	8.864	0.947730	0.18356	0.0	1.16E-4	ENSG00000179044	ENST00000314586	T	0.07908	3.15	5.71	5.71	0.89125	.	0.470758	0.22816	N	0.055285	T	0.12050	0.0293	M	0.70595	2.14	0.35772	D	0.820971	P	0.35077	0.483	B	0.32864	0.154	T	0.12967	-1.0527	10	0.25751	T	0.34	-9.7261	14.1929	0.65649	0.0:0.0:0.8499:0.1501	.	119	Q86VI1	EX3L1_HUMAN	L	119	ENSP00000325674:P119L	ENSP00000325674:P119L	P	-	2	0	EXOC3L1	65780196	1.000000	0.71417	0.747000	0.31113	0.092000	0.18411	1.986000	0.40677	2.680000	0.91292	0.655000	0.94253	CCC		0.682	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		A	67222695	G	A	67222695	3	1	201	1	0	0	0	0	1	0	0	0	5304	1232	43	2	1928	2	EXOC3L	16	67222695	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09	35719318	67222695	23132058	42	11684											
UBTF	7343	genome.wustl.edu	37	17	42288464	42288464	+	Silent	SNP	G	G	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr17:42288464G>A	ENST00000302904.4	-	12	1638	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	UBTF_ENST00000533177.1_Silent_p.I345I|UBTF_ENST00000343638.5_Silent_p.I345I|UBTF_ENST00000527034.1_Silent_p.I345I|UBTF_ENST00000529383.1_Silent_p.I382I|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Silent_p.I345I|UBTF_ENST00000526094.1_Silent_p.I345I|UBTF_ENST00000436088.1_Silent_p.I382I			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	382					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTTCTTGTTGATGTTCAGCA	0.662																																																0			17											99	88	92					17																	42288464		2203	4300	6503	39643990	SO:0001819	synonymous_variant	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1146C>T	17.37:g.42288464G>A			39643990	A8K6R8	Silent	SNP	ENST00000302904.4	37	CCDS11480.1																																																																																				0.662	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		A	42288464	G	A	42288464	2	1	201	1	0	0	0	0	0	0	0	1	16909	1280	45	2		2	UBTF	17	42288464	Silent	SNP	G	TCGA-23-2647-01A-01D-1526-09		42288464	38906746	43	11685											
WDR7	23335	genome.wustl.edu	37	18	54424291	54424291	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr18:54424291C>T	ENST00000254442.3	+	15	2678	c.2467C>T	c.(2467-2469)Cgc>Tgc	p.R823C	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R823C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	823					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTGCCTGGATCGCCTTGGAAT	0.473																																																0			18											197	185	189					18																	54424291		2203	4300	6503	52575289	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2467C>T	18.37:g.54424291C>T	ENSP00000254442:p.Arg823Cys		52575289	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051400	0.75960	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.68903	-0.36;-0.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79516	0.4459	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	T	0.79962	-0.1582	10	0.87932	D	0	.	19.7075	0.96079	0.0:1.0:0.0:0.0	.	823;823	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	C	823;823;148;823	ENSP00000254442:R823C;ENSP00000350187:R823C	ENSP00000254442:R823C	R	+	1	0	WDR7	52575289	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	5.795000	0.69074	2.749000	0.94314	0.655000	0.94253	CGC		0.473	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			T	54424291	C	T	54424291	3	4	201	1	0	0	0	0	1	0	0	0	17320	884	31	1	2521	1	WDR7	18	54424291	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09		54424291	23652957	44	11686											
COL5A3	50509	genome.wustl.edu	37	19	10116775	10116775	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr19:10116775C>G	ENST00000264828.3	-	2	306	c.221G>C	c.(220-222)gGc>gCc	p.G74A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	74	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGTGGGGATGCCGAGCGTGCT	0.667																																																0			19											37	35	35					19																	10116775		2203	4300	6503	9977775	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.221G>C	19.37:g.10116775C>G	ENSP00000264828:p.Gly74Ala		9977775	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	8.670	0.902673	0.17760	.	.	ENSG00000080573	ENST00000264828	T	0.02140	4.43	4.13	4.13	0.48395	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.199950	0.41500	U	0.000871	T	0.03783	0.0107	L	0.59436	1.845	0.09310	N	1	B	0.23591	0.088	B	0.24701	0.055	T	0.21314	-1.0249	10	0.66056	D	0.02	.	11.7741	0.51975	0.0:1.0:0.0:0.0	.	74	P25940	CO5A3_HUMAN	A	74	ENSP00000264828:G74A	ENSP00000264828:G74A	G	-	2	0	COL5A3	9977775	0.114000	0.22134	0.003000	0.11579	0.036000	0.12997	2.576000	0.46033	2.151000	0.67156	0.462000	0.41574	GGC		0.667	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		G	10116775	C	G	10116775	3	3	201	1	0	0	0	0	1	0	0	0	3698	739	26	3	5280	3	COL5A3	19	10116775	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09		10116775	49012208	45	11687											
ICAM5	7087	genome.wustl.edu	37	19	10404451	10404451	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr19:10404451G>C	ENST00000221980.4	+	7	1606	c.1543G>C	c.(1543-1545)Gtg>Ctg	p.V515L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	515	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCTGAGCTGTGTGGCGCACGG	0.652																																																0			19											85	86	85					19																	10404451		2203	4300	6503	10265451	SO:0001583	missense	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1543G>C	19.37:g.10404451G>C	ENSP00000221980:p.Val515Leu		10265451	Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215907	0.58452	.	.	ENSG00000105376	ENST00000221980	T	0.12039	2.72	4.85	3.76	0.43208	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.985596	0.08248	N	0.974998	T	0.14485	0.0350	N	0.16016	0.355	0.28119	N	0.930677	P	0.48407	0.91	P	0.51806	0.68	T	0.13818	-1.0495	10	0.34782	T	0.22	-26.6001	10.1831	0.42980	0.0:0.2195:0.7805:0.0	.	515	Q9UMF0	ICAM5_HUMAN	L	515	ENSP00000221980:V515L	ENSP00000221980:V515L	V	+	1	0	ICAM5	10265451	0.966000	0.33281	0.995000	0.50966	0.233000	0.25261	2.001000	0.40825	2.528000	0.85240	0.448000	0.29417	GTG		0.652	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		C	10404451	G	C	10404451	3	2	201	1	0	0	0	0	1	0	0	0	7483	1377	48	3	1569	3	ICAM5	19	10404451	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09	287676	10404451	48724532	46	11688											
SAMD4B	55095	genome.wustl.edu	37	19	39847636	39847636	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr19:39847636C>T	ENST00000314471.6	+	5	1138	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	SAMD4B_ENST00000598913.1_Missense_Mutation_p.R35C|SAMD4B_ENST00000594204.1_3'UTR|SAMD4B_ENST00000596368.1_Missense_Mutation_p.R35C	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACGGGTCACCCGTACCCAGGC	0.602																																																0			19											62	47	52					19																	39847636		2203	4300	6503	44539476	SO:0001583	missense	55095				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.103C>T	19.37:g.39847636C>T	ENSP00000317224:p.Arg35Cys		44539476	A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877404	0.91664	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	T	0.32272	1.46	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	P;P	0.61328	0.887;0.887	T	0.48410	-0.9038	10	0.66056	D	0.02	.	12.5309	0.56115	0.1665:0.8335:0.0:0.0	.	35;35	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	C	35	ENSP00000317224:R35C	ENSP00000317224:R35C	R	+	1	0	SAMD4B	44539476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.901000	0.69861	2.756000	0.94617	0.563000	0.77884	CGT		0.602	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		T	39847636	C	T	39847636	3	4	201	1	0	0	0	0	1	0	0	0	13825	652	23	1	105	1	SAMD4B	19	39847636	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	29443185	39847636	19281347	47	11689											
GPR4	2828	genome.wustl.edu	37	19	46094336	46094336	+	Silent	SNP	G	G	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr19:46094336G>A	ENST00000323040.4	-	2	1733	c.789C>T	c.(787-789)cgC>cgT	p.R263R	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	263					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CAGAAAAGACGCGCTCCTCGA	0.637																																					Esophageal Squamous(117;181 1612 1673 14956 42937)											0			19											37	41	40					19																	46094336		2203	4300	6503	50786176	SO:0001819	synonymous_variant	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.789C>T	19.37:g.46094336G>A			50786176	A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	CCDS12669.1																																																																																				0.637	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		A	46094336	G	A	46094336	2	1	201	1	0	0	0	0	0	0	0	1	6694	1074	38	1		1	GPR4	19	46094336	Silent	SNP	G	TCGA-23-2647-01A-01D-1526-09	6246700	46094336	13034647	48	11690											
SYNJ1	8867	genome.wustl.edu	37	21	34038437	34038437	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr21:34038437G>A	ENST00000322229.7	-	16	1960	c.1961C>T	c.(1960-1962)gCa>gTa	p.A654V	SYNJ1_ENST00000357345.3_Missense_Mutation_p.A654V|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A649V|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A693V|SYNJ1_ENST00000382499.2_Missense_Mutation_p.A693V			O43426	SYNJ1_HUMAN	synaptojanin 1	654	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGTATCAACTGCAACATCCCT	0.393																																																0			21											62	48	53					21																	34038437		2203	4300	6503	32960308	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1961C>T	21.37:g.34038437G>A	ENSP00000322234:p.Ala654Val		32960308	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090985	0.94149	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	6.04	5.12	0.69794	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.098210	0.64402	D	0.000002	D	0.88455	0.6441	M	0.67625	2.065	0.80722	D	1	D;B;D;P;P	0.57899	0.981;0.422;0.976;0.87;0.843	D;P;P;P;P	0.64595	0.927;0.491;0.882;0.644;0.609	D	0.89006	0.3425	10	0.87932	D	0	.	18.9861	0.92771	0.0:0.1239:0.8761:0.0	.	649;693;654;654;654	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	V	649;654;693;693;654;649	ENSP00000371931:A649V;ENSP00000349903:A654V;ENSP00000371939:A693V;ENSP00000409667:A693V;ENSP00000322234:A654V;ENSP00000413649:A649V	ENSP00000322234:A654V	A	-	2	0	SYNJ1	32960308	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.783000	0.85696	2.873000	0.98535	0.561000	0.74099	GCA		0.393	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	34038437	G	A	34038437	3	1	201	1	0	0	0	0	1	0	0	0	15452	1319	46	2	2849	2	SYNJ1	21	34038437	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09		34038437	14091458	49	11691											
SEZ6L	23544	genome.wustl.edu	37	22	26688766	26688766	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr22:26688766G>T	ENST00000248933.6	+	2	584	c.489G>T	c.(487-489)aaG>aaT	p.K163N	SEZ6L_ENST00000360929.3_Missense_Mutation_p.K163N|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.K163N|SEZ6L_ENST00000529632.2_Missense_Mutation_p.K163N|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.K163N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	163					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCACGGAGAAGCCTGGCCCAC	0.667																																																0			22											42	41	42					22																	26688766		2203	4300	6503	25018766	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.489G>T	22.37:g.26688766G>T	ENSP00000248933:p.Lys163Asn		25018766	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121630	0.37436	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.28895	1.83;1.95;2.01;1.84;1.59	3.8	2.78	0.32641	.	0.817322	0.10085	U	0.717887	T	0.26484	0.0647	N	0.08118	0	0.20926	N	0.99983	P;P;D;D;P;P	0.67145	0.933;0.933;0.993;0.996;0.933;0.933	B;B;P;P;B;B	0.58721	0.343;0.343;0.677;0.844;0.343;0.343	T	0.16808	-1.0390	10	0.14656	T	0.56	.	9.9453	0.41604	0.1818:0.0:0.8182:0.0	.	163;163;163;163;163;163	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	N	163	ENSP00000384772:K163N;ENSP00000437037:K163N;ENSP00000354185:K163N;ENSP00000248933:K163N;ENSP00000342661:K163N	ENSP00000248933:K163N	K	+	3	2	SEZ6L	25018766	0.951000	0.32395	0.036000	0.18154	0.002000	0.02628	1.136000	0.31467	0.921000	0.36994	-0.300000	0.09419	AAG		0.667	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			T	26688766	G	T	26688766	3	4	201	1	0	0	0	0	1	0	0	0	14146	962	34	3	495	3	SEZ6L	22	26688766	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09		26688766	24615800	50	11692											
TYMP	1890	genome.wustl.edu	37	22	50966077	50966077	+	Missense_Mutation	SNP	C	C	T	rs367723039		TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chr22:50966077C>T	ENST00000252029.3	-	5	748	c.586G>A	c.(586-588)Gga>Aga	p.G196R	TYMP_ENST00000395681.1_Missense_Mutation_p.G196R|TYMP_ENST00000395680.1_Missense_Mutation_p.G196R|TYMP_ENST00000395678.3_Missense_Mutation_p.G196R|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_5'Flank|SCO2_ENST00000543927.1_5'Flank|SCO2_ENST00000395693.3_5'Flank|SCO2_ENST00000252785.3_5'Flank	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	196					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	TATAGGATTCCGTCCGCAGGA	0.577																																																0			22						C	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	110	96	101		586,586,586	4.1	1	22		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TYMP	NM_001953.3,NM_001113756.1,NM_001113755.1	125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	196/483,196/483,196/483	50966077	1,13005	2203	4300	6503	49312943	SO:0001583	missense	1890			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.586G>A	22.37:g.50966077C>T	ENSP00000252029:p.Gly196Arg		49312943	A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	6.167	0.399042	0.11696	0.0	1.16E-4	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77;-4.77	5.12	4.1	0.47936	Glycosyl transferase, family 3 (3);	0.305128	0.31427	N	0.007679	D	0.89636	0.6772	N	0.01091	-1.02	0.35265	D	0.779904	B;B;B;B	0.34313	0.448;0.287;0.287;0.287	B;B;B;B	0.28638	0.092;0.029;0.029;0.029	D	0.90880	0.4753	10	0.87932	D	0	-4.7417	6.8759	0.24147	0.0:0.8092:0.0:0.1908	.	196;196;196;196	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	R	196;196;196;196;163	ENSP00000379037:G196R;ENSP00000379038:G196R;ENSP00000252029:G196R;ENSP00000379036:G196R;ENSP00000395875:G163R	ENSP00000252029:G196R	G	-	1	0	TYMP	49312943	0.137000	0.22531	0.957000	0.39632	0.536000	0.34869	0.791000	0.26915	2.393000	0.81446	0.561000	0.74099	GGA		0.577	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		T	50966077	C	T	50966077	3	4	201	1	0	0	0	0	1	0	0	0	16811	661	23	1	886	1	TYMP	22	50966077	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	24277311	50966077	338489	51	11693											
NLGN4X	57502	genome.wustl.edu	37	X	6069176	6069176	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chrX:6069176G>A	ENST00000381095.3	-	2	959	c.332C>T	c.(331-333)cCc>cTc	p.P111L	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P111L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P111L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P111L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P111L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	111					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CAGGTGCTGGGGGCACACAGC	0.522																																																0			X											121	103	109					X																	6069176		2203	4300	6503	6079176	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.332C>T	X.37:g.6069176G>A	ENSP00000370485:p.Pro111Leu		6079176	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208489	0.58343	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	4.09	4.09	0.47781	Carboxylesterase, type B (1);	.	.	.	.	T	0.77184	0.4093	L	0.58428	1.81	0.80722	D	1	P;D;D	0.89917	0.938;1.0;0.996	P;D;P	0.97110	0.759;1.0;0.886	T	0.75107	-0.3434	9	0.27785	T	0.31	.	14.8007	0.69913	0.0:0.0:1.0:0.0	.	111;111;111	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	111	ENSP00000370485:P111L;ENSP00000370483:P111L;ENSP00000275857:P111L;ENSP00000370482:P111L;ENSP00000439203:P111L	ENSP00000275857:P111L	P	-	2	0	NLGN4X	6079176	1.000000	0.71417	0.868000	0.34077	0.161000	0.22273	8.047000	0.89440	1.660000	0.50760	0.600000	0.82982	CCC		0.522	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		A	6069176	G	A	6069176	3	1	201	1	0	0	0	0	1	0	0	0	10464	1232	43	2	2138	2	NLGN4X	23	6069176	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09		6069176	149201384	52	11694											
DDX53	168400	genome.wustl.edu	37	X	23019108	23019108	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chrX:23019108G>A	ENST00000327968.5	+	1	1022	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	312	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGCTCTTCACGTGGAAGCTGA	0.408													G|||	1	0.000264901	8e-04	0	3775	,	,		16112	0		0	False		,,,				2504	0															0			X											74	73	73					X																	23019108		2203	4300	6503	22929029	SO:0001583	missense	168400			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.934G>A	X.37:g.23019108G>A	ENSP00000368667:p.Val312Met		22929029	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	9.356	1.066739	0.20067	.	.	ENSG00000184735	ENST00000327968	T	0.05139	3.49	4.3	1.28	0.21552	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.300009	0.31370	N	0.007767	T	0.24586	0.0596	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02877	-1.1099	10	0.87932	D	0	-6.7638	4.8973	0.13757	0.2269:0.1801:0.593:0.0	.	312	Q86TM3	DDX53_HUMAN	M	312	ENSP00000368667:V312M	ENSP00000368667:V312M	V	+	1	0	DDX53	22929029	1.000000	0.71417	0.029000	0.17559	0.023000	0.10783	2.224000	0.42945	0.759000	0.33084	0.600000	0.82982	GTG		0.408	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		A	23019108	G	A	23019108	3	1	201	1	0	0	0	0	1	0	0	0	4371	1145	40	1	936	1	DDX53	23	23019108	Missense_Mutation	SNP	G	TCGA-23-2647-01A-01D-1526-09	16949932	23019108	132251452	53	11695											
ACTRT1	139741	genome.wustl.edu	37	X	127185282	127185282	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chrX:127185282C>A	ENST00000371124.3	-	1	1100	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	302						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTGGTGCCCCCGGAGAGTACA	0.517																																																0			X											99	86	90					X																	127185282		2203	4300	6503	127012963	SO:0001583	missense	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.904G>T	X.37:g.127185282C>A	ENSP00000360165:p.Gly302Trp		127012963	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610502	0.28712	.	.	ENSG00000123165	ENST00000371124	D	0.88741	-2.42	3.58	2.71	0.32032	.	0.000000	0.64402	D	0.000010	D	0.96436	0.8837	H	0.99454	4.575	0.49130	D	0.999759	D	0.89917	1.0	D	0.97110	1.0	D	0.94961	0.8108	10	0.87932	D	0	.	8.3487	0.32288	0.0:0.8768:0.0:0.1232	.	302	Q8TDG2	ACTT1_HUMAN	W	302	ENSP00000360165:G302W	ENSP00000360165:G302W	G	-	1	0	ACTRT1	127012963	1.000000	0.71417	0.873000	0.34254	0.016000	0.09150	5.261000	0.65496	0.883000	0.36040	-0.191000	0.12829	GGG		0.517	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		A	127185282	C	A	127185282	3	1	201	1	0	0	0	0	1	0	0	0	218	652	23	3	230	3	ACTRT1	23	127185282	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	104166174	127185282	28085278	54	11696											
GPC3	2719	genome.wustl.edu	37	X	132887741	132887741	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chrX:132887741C>T	ENST00000370818.3	-	3	1245	c.800G>A	c.(799-801)gGa>gAa	p.G267E	GPC3_ENST00000543339.1_Missense_Mutation_p.G213E|GPC3_ENST00000394299.2_Missense_Mutation_p.G267E	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	267					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CATCATCAGTCCCTGGCAGTA	0.468			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0			X											621	395	472					X																	132887741		2203	4300	6503	132715407	SO:0001583	missense	2719	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.800G>A	X.37:g.132887741C>T	ENSP00000359854:p.Gly267Glu		132715407	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142797	0.57044	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.65732	-0.17;-0.17;-0.17	5.82	5.82	0.92795	Glypican, conserved site (1);	0.105245	0.64402	D	0.000003	T	0.78521	0.4296	M	0.70595	2.14	0.38315	D	0.943357	D;D;P;D	0.65815	0.971;0.995;0.854;0.971	P;D;P;P	0.67103	0.902;0.949;0.803;0.902	T	0.82242	-0.0554	10	0.87932	D	0	.	17.9336	0.89006	0.0:1.0:0.0:0.0	.	251;213;267;267	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	E	267;267;213	ENSP00000359854:G267E;ENSP00000377836:G267E;ENSP00000444222:G213E	ENSP00000359854:G267E	G	-	2	0	GPC3	132715407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.913000	0.48790	2.455000	0.83008	0.594000	0.82650	GGA		0.468	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		T	132887741	C	T	132887741	3	4	201	1	0	0	0	0	1	0	0	0	6599	855	30	2	1039	2	GPC3	23	132887741	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	5702459	132887741	22382819	55	11697											
SPANXN1	494118	genome.wustl.edu	37	X	144337311	144337311	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2647-01A-01D-1526-09	TCGA-23-2647-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91a0e33a-5276-4a41-90bf-4355cb635318	53a93b80-fb59-496c-bf1a-c039810b942d	g.chrX:144337311C>A	ENST00000370493.3	+	2	955	c.196C>A	c.(196-198)Caa>Aaa	p.Q66K		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	66										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACATTCAAATCAACTGGAGAA	0.438																																																0			X											189	163	172					X																	144337311		2203	4298	6501	144145003	SO:0001583	missense	494118				CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.196C>A	X.37:g.144337311C>A	ENSP00000359524:p.Gln66Lys		144145003		Missense_Mutation	SNP	ENST00000370493.3	37	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	10.88	1.474347	0.26423	.	.	ENSG00000203923	ENST00000370493	T	0.07800	3.16	1.19	0.224	0.15297	.	.	.	.	.	T	0.20047	0.0482	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.76071	0.987	T	0.10405	-1.0631	8	0.72032	D	0.01	.	3.5901	0.07985	0.0:0.7089:0.0:0.2911	.	66	Q5VSR9	SPXN1_HUMAN	K	66	ENSP00000359524:Q66K	ENSP00000359524:Q66K	Q	+	1	0	SPANXN1	144145003	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.206000	0.09398	0.020000	0.15106	0.151000	0.16131	CAA		0.438	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		A	144337311	C	A	144337311	3	1	201	1	0	0	0	0	1	0	0	0	14993	827	29	3	202	3	SPANXN1	23	144337311	Missense_Mutation	SNP	C	TCGA-23-2647-01A-01D-1526-09	11449570	144337311	10933249	56	11698											
CLCNKA	1187	genome.wustl.edu	37	1	16354393	16354393	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:16354393G>T	ENST00000331433.4	+	9	878	c.859G>T	c.(859-861)Gcg>Tcg	p.A287S	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A287S|CLCNKA_ENST00000375692.1_Missense_Mutation_p.A287S|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A244S			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	287			A -> V (in dbSNP:rs34188929).		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTTTTTTGTGGCGCTGGGGTG	0.612																																																0			1											63	57	59					1																	16354393		2202	4276	6478	16226980	SO:0001583	missense	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.859G>T	1.37:g.16354393G>T	ENSP00000332771:p.Ala287Ser		16226980	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	8.121	0.780840	0.16120	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	3.3	-2.09	0.07232	Chloride channel, core (2);	0.863417	0.10401	N	0.679201	D	0.90971	0.7161	L	0.44542	1.39	0.09310	N	1	B;B;B	0.26602	0.154;0.154;0.154	B;B;B	0.40410	0.244;0.328;0.328	D	0.83652	0.0156	10	0.72032	D	0.01	.	0.8946	0.01261	0.1631:0.3207:0.1937:0.3224	.	244;287;287	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	S	287;287;244;287	ENSP00000364844:A287S;ENSP00000410353:A287S;ENSP00000414445:A244S;ENSP00000332771:A287S	ENSP00000332771:A287S	A	+	1	0	CLCNKA	16226980	0.000000	0.05858	0.137000	0.22149	0.114000	0.19823	-0.376000	0.07465	-0.136000	0.11475	0.313000	0.20887	GCG		0.612	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			T	16354393	G	T	16354393	3	4	202	1	0	0	0	0	1	0	0	0	3469	1203	42	3	889	3	CLCNKA	1	16354393	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09		16354393	232896228	1	11699											
DHDDS	79947	genome.wustl.edu	37	1	26795504	26795504	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:26795504G>C	ENST00000236342.7	+	9	977	c.884G>C	c.(883-885)cGa>cCa	p.R295P	RP3-476K8.3_ENST00000423060.1_RNA|DHDDS_ENST00000525682.2_Missense_Mutation_p.R261P|DHDDS_ENST00000526219.1_Missense_Mutation_p.R256P|DHDDS_ENST00000360009.2_Missense_Mutation_p.R296P			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	295					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCCCAGCTCCGAAGGACACGC	0.642																																																0			1											54	52	53					1																	26795504		2203	4300	6503	26668091	SO:0001583	missense	79947			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.884G>C	1.37:g.26795504G>C	ENSP00000236342:p.Arg295Pro		26668091	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	CCDS282.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938395	0.73557	.	.	ENSG00000117682	ENST00000374187;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000360009;ENST00000431933	T;T;T;T	0.46063	0.88;0.91;0.89;0.91	5.52	5.52	0.82312	.	0.059022	0.64402	D	0.000002	T	0.52549	0.1741	L	0.50333	1.59	0.80722	D	1	P;D;P;P	0.59767	0.875;0.986;0.797;0.92	B;P;B;P	0.55345	0.286;0.774;0.286;0.562	T	0.48603	-0.9021	10	0.44086	T	0.13	-25.2442	16.5975	0.84800	0.0:0.0:1.0:0.0	.	261;256;295;296	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	P	133;261;295;256;296;131	ENSP00000434984:R261P;ENSP00000236342:R295P;ENSP00000434219:R256P;ENSP00000353104:R296P	ENSP00000236342:R295P	R	+	2	0	DHDDS	26668091	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.277000	0.78572	2.598000	0.87819	0.462000	0.41574	CGA		0.642	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		C	26795504	G	C	26795504	3	2	202	1	0	0	0	0	1	0	0	0	4478	1058	37	3	917	3	DHDDS	1	26795504	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	10441111	26795504	222455117	2	11700											
GJB3	2707	genome.wustl.edu	37	1	35250947	35250947	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:35250947C>A	ENST00000373366.2	+	2	1199	c.584C>A	c.(583-585)tCc>tAc	p.S195Y	GJB3_ENST00000373362.3_Missense_Mutation_p.S195Y|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	195					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGGGCGCCTCCGCCGTCTGC	0.602																																																0			1											87	80	82					1																	35250947		2203	4300	6503	35023534	SO:0001583	missense	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.584C>A	1.37:g.35250947C>A	ENSP00000362464:p.Ser195Tyr		35023534	B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	CCDS384.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435551	0.43224	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.96856	-4.15;-4.15	5.07	4.16	0.48862	Gap junction protein, cysteine-rich domain (1);	0.127905	0.56097	D	0.000039	D	0.98441	0.9481	M	0.93678	3.445	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.99129	1.0852	10	0.87932	D	0	.	13.1849	0.59675	0.0:0.9217:0.0:0.0783	.	195	O75712	CXB3_HUMAN	Y	195;195;179	ENSP00000362464:S195Y;ENSP00000362460:S195Y	ENSP00000362460:S195Y	S	+	2	0	GJB3	35023534	1.000000	0.71417	0.816000	0.32577	0.037000	0.13140	7.770000	0.85390	1.146000	0.42352	-0.265000	0.10407	TCC		0.602	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		A	35250947	C	A	35250947	3	1	202	1	0	0	0	0	1	0	0	0	6409	855	30	3	586	3	GJB3	1	35250947	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	8455443	35250947	213999674	3	11701											
F3	2152	genome.wustl.edu	37	1	94997915	94997915	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:94997915G>C	ENST00000334047.7	-	5	876	c.713C>G	c.(712-714)cCg>cGg	p.P238R	F3_ENST00000370207.4_Intron|F3_ENST00000480356.1_5'Flank	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	238					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	ACACTCTACCGGGCTGTCTGT	0.502																																					Melanoma(40;358 1339 15970 39161)											0			1											136	122	127					1																	94997915		2203	4300	6503	94770503	SO:0001583	missense	2152			BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"CD molecules"	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.713C>G	1.37:g.94997915G>C	ENSP00000334145:p.Pro238Arg		94770503	D3DT47|Q6FHG2|Q86WH4	Missense_Mutation	SNP	ENST00000334047.7	37	CCDS750.1	.	.	.	.	.	.	.	.	.	.	G	4.442	0.081785	0.08533	.	.	ENSG00000117525	ENST00000334047	T	0.30714	1.52	5.48	-6.37	0.01963	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.920830	0.01704	N	0.027376	T	0.04318	0.0119	N	0.19112	0.55	0.09310	N	0.999996	B	0.24426	0.103	B	0.15052	0.012	T	0.15867	-1.0422	10	0.19590	T	0.45	.	2.5101	0.04654	0.2737:0.2219:0.3938:0.1106	.	238	P13726	TF_HUMAN	R	238	ENSP00000334145:P238R	ENSP00000334145:P238R	P	-	2	0	F3	94770503	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.743000	0.01834	-0.604000	0.05760	-0.793000	0.03317	CCG		0.502	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		C	94997915	G	C	94997915	3	2	202	1	0	0	0	0	1	0	0	0	5347	1116	39	3	182	3	F3	1	94997915	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	59746968	94997915	154252706	4	11702											
EPS8L3	79574	genome.wustl.edu	37	1	110299781	110299781	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:110299781C>G	ENST00000361965.4	-	12	1082	c.976G>C	c.(976-978)Gcc>Ccc	p.A326P	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Missense_Mutation_p.A326P|EPS8L3_ENST00000369805.3_Missense_Mutation_p.A327P	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	326						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGGCACCTGGCCAGGATCTAG	0.602																																																0			1											49	42	45					1																	110299781		2203	4300	6503	110101304	SO:0001583	missense	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.976G>C	1.37:g.110299781C>G	ENSP00000355255:p.Ala326Pro		110101304	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327437	0.81690	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.37411	1.2;1.2;1.2	5.44	-6.22	0.02058	.	1.063900	0.07094	N	0.839258	T	0.17195	0.0413	L	0.50333	1.59	0.09310	N	1	B;B;B;D	0.53151	0.002;0.022;0.002;0.958	B;B;B;P	0.51229	0.005;0.003;0.004;0.663	T	0.15752	-1.0426	10	0.30078	T	0.28	0.7248	5.5358	0.17011	0.4935:0.1493:0.0:0.3572	.	326;326;326;327	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	P	326;327;326	ENSP00000354551:A326P;ENSP00000358820:A327P;ENSP00000355255:A326P	ENSP00000354551:A326P	A	-	1	0	EPS8L3	110101304	0.000000	0.05858	0.001000	0.08648	0.645000	0.38454	-1.965000	0.01511	-0.833000	0.04245	0.585000	0.79938	GCC		0.602	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		G	110299781	C	G	110299781	3	3	202	1	0	0	0	0	1	0	0	0	5197	739	26	3	837	3	EPS8L3	1	110299781	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	15301866	110299781	138950840	5	11703											
DRAM2	128338	genome.wustl.edu	37	1	111661425	111661425	+	Splice_Site	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:111661425A>G	ENST00000286692.4	-	8	1311		c.e8+1		DRAM2_ENST00000539140.1_Splice_Site|DRAM2_ENST00000484310.1_Splice_Site			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2						apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						GTGCCTTCTTACCTGAAAATC	0.403																																																0			1											61	56	58					1																	111661425		2200	4300	6500	111462948	SO:0001630	splice_region_variant	128338			AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"transmembrane protein 77"	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.693+1T>C	1.37:g.111661425A>G			111462948	B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Splice_Site	SNP	ENST00000286692.4	37	CCDS30801.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447641	0.63178	.	.	ENSG00000156171	ENST00000286692;ENST00000539140	.	.	.	5.63	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0664	0.36467	0.8363:0.0:0.0:0.1637	.	.	.	.	.	-1	.	.	.	-	.	.	DRAM2	111462948	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.962000	0.76048	1.028000	0.39785	0.528000	0.53228	.		0.403	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032930.3	NM_178454	Intron	G	111661425	A	G	111661425	5	3	202	1	0	0	0	0	0	0	1	0	4754	405	14	4	113	4	DRAM2	1	111661425	Splice_Site	SNP	A	TCGA-23-2649-01A-01D-1526-09	1361644	111661425	137589196	6	11704											
HRNR	388697	genome.wustl.edu	37	1	152191033	152191033	+	Nonsense_Mutation	SNP	A	A	T	rs148722408	byFrequency	TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:152191033A>T	ENST00000368801.2	-	3	3147	c.3072T>A	c.(3070-3072)taT>taA	p.Y1024*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1024					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Y1024Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATATGGGCCATAGCTGGAAG	0.602																																																1	Substitution - coding silent(1)	prostate(1)	1											152	168	163					1																	152191033		2203	4300	6503	150457657	SO:0001587	stop_gained	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3072T>A	1.37:g.152191033A>T	ENSP00000357791:p.Tyr1024*		150457657	Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	A	36	5.728352	0.96856	.	.	ENSG00000197915	ENST00000368801	.	.	.	2.88	-5.32	0.02722	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.272	0.43489	0.795:0.0:0.205:0.0	.	.	.	.	X	1024	.	ENSP00000357791:Y1024X	Y	-	3	2	HRNR	150457657	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.358000	0.02604	-1.947000	0.01034	-2.376000	0.00234	TAT		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152191033	A	T	152191033	4	4	202	1	0	0	0	0	0	1	0	0	7359	224	8	5	5484	5	HRNR	1	152191033	Nonsense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	40529608	152191033	97059588	7	11705											
S100A9	6280	genome.wustl.edu	37	1	153333314	153333314	+	Nonstop_Mutation	SNP	A	A	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:153333314A>C	ENST00000368738.3	+	3	388	c.345A>C	c.(343-345)taA>taC	p.*115Y		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCACCCCCTAAGACCACAGTG	0.657																																																0			1											25	22	23					1																	153333314		2202	4300	6502	151599938	SO:0001578	stop_lost	6280			BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"S100 calcium binding proteins", "EF-hand domain containing"	10499	protein-coding gene	gene with protein product		123886	"S100 calcium-binding protein A9 (calgranulin B)", "S100 calcium binding protein A9 (calgranulin B)"	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.345A>C	1.37:g.153333314A>C	ENSP00000357727:p.*115Tyrext*24		151599938	D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Nonstop_Mutation	SNP	ENST00000368738.3	37	CCDS1036.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.643830	0.00792	.	.	ENSG00000163220	ENST00000368738	.	.	.	1.23	-2.47	0.06442	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3379	0.04252	0.472:0.2772:0.0:0.2509	.	.	.	.	Y	115	.	.	X	+	3	2	S100A9	151599938	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.183000	0.01255	-1.605000	0.01593	-0.717000	0.03617	TAA		0.657	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1	NM_002965		C	153333314	A	C	153333314	4	2	202	1	0	0	0	0	0	0	0	0	13790	79	3	5	351	5	S100A9	1	153333314	Nonstop_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	1142281	153333314	95917307	8	11706											
BCAN	63827	genome.wustl.edu	37	1	156618391	156618391	+	Silent	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:156618391G>A	ENST00000329117.5	+	6	1137	c.801G>A	c.(799-801)aaG>aaA	p.K267K	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.K267K	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	267	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCAGAGAAGCTGACATTGG	0.602																																																0			1											78	77	77					1																	156618391		2203	4300	6503	154885015	SO:0001819	synonymous_variant	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.801G>A	1.37:g.156618391G>A			154885015	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	CCDS1149.1																																																																																				0.602	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		A	156618391	G	A	156618391	2	1	202	1	0	0	0	0	0	0	0	1	1345	962	34	2		2	BCAN	1	156618391	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09	3285077	156618391	92632230	9	11707											
NES	10763	genome.wustl.edu	37	1	156642460	156642460	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:156642460T>G	ENST00000368223.3	-	4	1652	c.1520A>C	c.(1519-1521)aAa>aCa	p.K507T		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	507	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTGTTTCTTTCTCTACCAA	0.502																																																0			1											113	116	115					1																	156642460		2203	4300	6503	154909084	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1520A>C	1.37:g.156642460T>G	ENSP00000357206:p.Lys507Thr		154909084	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387086	0.42308	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.88586	-2.4	5.27	2.89	0.33648	.	0.778451	0.10515	N	0.665688	T	0.76004	0.3927	M	0.64997	1.995	0.24421	N	0.994611	B	0.21905	0.062	B	0.21708	0.036	T	0.69015	-0.5257	10	0.87932	D	0	.	4.3268	0.11045	0.0:0.1771:0.1727:0.6501	.	507	P48681	NEST_HUMAN	T	507	ENSP00000357206:K507T	ENSP00000255024:K507T	K	-	2	0	NES	154909084	0.043000	0.20138	0.141000	0.22245	0.411000	0.31082	0.757000	0.26433	0.309000	0.22966	0.377000	0.23210	AAA		0.502	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		G	156642460	T	G	156642460	3	3	202	1	0	0	0	0	1	0	0	0	10337	1841	64	5	3349	5	NES	1	156642460	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	24069	156642460	92608161	10	11708											
FCRL5	83416	genome.wustl.edu	37	1	157490854	157490854	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:157490854T>C	ENST00000361835.3	-	11	2625	c.2468A>G	c.(2467-2469)aAt>aGt	p.N823S	FCRL5_ENST00000356953.4_Missense_Mutation_p.N823S|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	823	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCCGAGGCCATTGTCGGCCTC	0.562																																																0			1											57	66	63					1																	157490854		2203	4300	6503	155757478	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2468A>G	1.37:g.157490854T>C	ENSP00000354691:p.Asn823Ser		155757478	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876199	0.51801	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.16457	2.34;2.34	5.25	5.25	0.73442	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27169	0.0666	H	0.95151	3.63	0.80722	D	1	B;P	0.41102	0.015;0.738	B;B	0.43445	0.033;0.42	T	0.35400	-0.9790	9	0.72032	D	0.01	.	11.4603	0.50206	0.0:0.0:0.0:1.0	.	823;823	A6NJE8;Q96RD9	.;FCRL5_HUMAN	S	823	ENSP00000354691:N823S;ENSP00000349434:N823S	ENSP00000349434:N823S	N	-	2	0	FCRL5	155757478	0.995000	0.38212	0.590000	0.28732	0.377000	0.30045	2.010000	0.40913	2.201000	0.70794	0.528000	0.53228	AAT		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		C	157490854	T	C	157490854	3	2	202	1	0	0	0	0	1	0	0	0	5798	1493	52	4	493	4	FCRL5	1	157490854	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	848394	157490854	91759767	11	11709											
AIM2	9447	genome.wustl.edu	37	1	159032487	159032487	+	Missense_Mutation	SNP	T	T	G	rs531843702	byFrequency	TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:159032487T>G	ENST00000368130.4	-	6	1315	c.1027A>C	c.(1027-1029)Aca>Cca	p.T343P		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	343					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTCTCTATGTTTTTTTTTTG	0.398																																																0			1											174	138	150					1																	159032487		2203	4300	6503	157299111	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.1027A>C	1.37:g.159032487T>G	ENSP00000357112:p.Thr343Pro		157299111	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	T	7.267	0.606385	0.14002	.	.	ENSG00000163568	ENST00000368130	T	0.08984	3.03	1.77	1.77	0.24775	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.09377	0.004	T	0.47005	-0.9150	9	0.72032	D	0.01	.	5.5806	0.17248	0.0:0.0:0.0:1.0	.	343	O14862	AIM2_HUMAN	P	343	ENSP00000357112:T343P	ENSP00000357112:T343P	T	-	1	0	AIM2	157299111	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.008000	0.12788	1.066000	0.40716	0.379000	0.24179	ACA		0.398	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		G	159032487	T	G	159032487	3	3	202	1	0	0	0	0	1	0	0	0	432	1725	60	5	8	5	AIM2	1	159032487	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	1541633	159032487	90218134	12	11710											
UAP1	6675	genome.wustl.edu	37	1	162535876	162535876	+	Silent	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:162535876C>G	ENST00000367925.1	+	1	50	c.18C>G	c.(16-18)ctC>ctG	p.L6L	UAP1_ENST00000367926.4_Silent_p.L6L|UAP1_ENST00000367924.1_Silent_p.L6L|UAP1_ENST00000271469.3_Silent_p.L6L			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	6					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTAATGACCTCAAACTCACGT	0.413																																																0			1											95	90	92					1																	162535876		2203	4300	6503	160802500	SO:0001819	synonymous_variant	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.18C>G	1.37:g.162535876C>G			160802500	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37																																																																																					0.413	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		G	162535876	C	G	162535876	2	3	202	1	0	0	0	0	0	0	0	1	16825	813	29	3		3	UAP1	1	162535876	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	3503389	162535876	86714745	13	11711											
ILDR2	387597	genome.wustl.edu	37	1	166944486	166944486	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:166944486C>T	ENST00000271417.3	-	1	75	c.20G>A	c.(19-21)aGg>aAg	p.R7K	ILDR2_ENST00000469934.2_Missense_Mutation_p.R7K|ILDR2_ENST00000529387.1_Missense_Mutation_p.R7K|ILDR2_ENST00000526687.1_Missense_Mutation_p.R7K|ILDR2_ENST00000528703.1_Missense_Mutation_p.R7K|ILDR2_ENST00000529071.1_Missense_Mutation_p.R7K|ILDR2_ENST00000525740.1_Missense_Mutation_p.R7K	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	7					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGAAATCCACCTCAGCAAGAC	0.512																																																0			1											123	114	117					1																	166944486		2203	4300	6503	165211110	SO:0001583	missense	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.20G>A	1.37:g.166944486C>T	ENSP00000271417:p.Arg7Lys		165211110		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	8.651	0.898355	0.17686	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529387;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T;T	0.76060	0.59;-0.99;-0.99;0.58;0.59;-0.99;0.01	3.04	-0.258	0.12975	.	3.324780	0.01045	U	0.004372	T	0.31104	0.0786	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14671	-1.0464	10	0.41790	T	0.15	.	5.2114	0.15318	0.0:0.3817:0.4776:0.1407	.	7	Q71H61	ILDR2_HUMAN	K	7	ENSP00000271417:R7K;ENSP00000436120:R7K;ENSP00000431316:R7K;ENSP00000437008:R7K;ENSP00000436882:R7K;ENSP00000434273:R7K;ENSP00000432750:R7K	ENSP00000271417:R7K	R	-	2	0	ILDR2	165211110	0.139000	0.22563	0.001000	0.08648	0.663000	0.39108	0.666000	0.25097	-0.331000	0.08501	0.407000	0.27541	AGG		0.512	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		T	166944486	C	T	166944486	3	4	202	1	0	0	0	0	1	0	0	0	7710	681	24	2	1939	2	ILDR2	1	166944486	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	4408610	166944486	82306135	14	11712											
BAT2L2	23215	genome.wustl.edu	37	1	171486773	171486773	+	Silent	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:171486773T>C	ENST00000338920.4	+	6	801	c.564T>C	c.(562-564)ccT>ccC	p.P188P	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Silent_p.P188P|RNU6-773P_ENST00000364256.1_RNA|PRRC2C_ENST00000392078.3_Silent_p.P190P|PRRC2C_ENST00000367742.3_Silent_p.P190P	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	188					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CTGGCTCACCTTCGTCATCTG	0.423																																																0			1											97	95	96					1																	171486773		2203	4300	6503	169753397	SO:0001819	synonymous_variant	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.564T>C	1.37:g.171486773T>C			169753397	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2																																																																																				0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		C	171486773	T	C	171486773	2	2	202	1	0	0	0	0	0	0	0	1	1321	1596	56	4		4	BAT2L2	1	171486773	Silent	SNP	T	TCGA-23-2649-01A-01D-1526-09	4542287	171486773	77763848	15	11713											
QSOX1	5768	genome.wustl.edu	37	1	180165665	180165665	+	Silent	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:180165665C>T	ENST00000367602.3	+	12	1811	c.1737C>T	c.(1735-1737)gaC>gaT	p.D579D	QSOX1_ENST00000367600.5_Silent_p.D579D			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	579					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAACTCTGGACCCTGGGAAGC	0.642																																																0			1											84	88	87					1																	180165665		2203	4300	6503	178432288	SO:0001819	synonymous_variant	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1737C>T	1.37:g.180165665C>T			178432288	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	CCDS1337.1																																																																																				0.642	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		T	180165665	C	T	180165665	2	4	202	1	0	0	0	0	0	0	0	1	12886	506	18	2		2	QSOX1	1	180165665	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	8678892	180165665	69084956	16	11714											
IL10	3586	genome.wustl.edu	37	1	206945708	206945708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:206945708G>A	ENST00000423557.1	-	1	131	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	25					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTCTCAGACTGGGTGCCCTGG	0.557																																																0			1											110	89	96					1																	206945708		2203	4300	6503	205012331	SO:0001587	stop_gained	3586			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.73C>T	1.37:g.206945708G>A	ENSP00000412237:p.Gln25*		205012331		Nonsense_Mutation	SNP	ENST00000423557.1	37	CCDS1467.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976282	0.74360	.	.	ENSG00000136634	ENST00000423557	.	.	.	5.13	4.22	0.49857	.	1.344010	0.04241	N	0.336953	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-0.0214	10.3465	0.43909	0.0931:0.0:0.9069:0.0	.	.	.	.	X	25	.	ENSP00000412237:Q25X	Q	-	1	0	IL10	205012331	0.010000	0.17322	0.010000	0.14722	0.498000	0.33706	1.727000	0.38095	1.484000	0.48361	0.655000	0.94253	CAG		0.557	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		A	206945708	G	A	206945708	4	1	202	1	0	0	0	0	0	1	0	0	7619	1357	47	2	483	2	IL10	1	206945708	Nonsense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	26780043	206945708	42304913	17	11715											
SPATA17	128153	genome.wustl.edu	37	1	217955521	217955521	+	Silent	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:217955521C>A	ENST00000366933.4	+	8	784	c.729C>A	c.(727-729)ccC>ccA	p.P243P	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	243						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GTCAGGGGCCCTTCCGAGATA	0.448																																																0			1											66	70	69					1																	217955521		2203	4300	6503	216022144	SO:0001819	synonymous_variant	128153			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.729C>A	1.37:g.217955521C>A			216022144	A5D6N2	Silent	SNP	ENST00000366933.4	37	CCDS1519.1																																																																																				0.448	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		A	217955521	C	A	217955521	2	1	202	1	0	0	0	0	0	0	0	1	15004	668	24	3		3	SPATA17	1	217955521	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	11009813	217955521	31295100	18	11716											
TP53BP2	7159	genome.wustl.edu	37	1	223990521	223990521	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:223990521T>C	ENST00000343537.7	-	8	1199	c.908A>G	c.(907-909)gAa>gGa	p.E303G	TP53BP2_ENST00000391879.2_5'Flank|TP53BP2_ENST00000498843.1_5'Flank|TP53BP2_ENST00000391878.2_Missense_Mutation_p.E174G	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	297					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GACTGCCACTTCTGAATTACG	0.433																																																0			1											183	173	176					1																	223990521		2203	4300	6503	222057144	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.908A>G	1.37:g.223990521T>C	ENSP00000341957:p.Glu303Gly		222057144	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	T	33	5.272966	0.95429	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.33654	1.4;1.4	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.63931	0.2553	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.993	T	0.70040	-0.4981	10	0.87932	D	0	.	15.7073	0.77594	0.0:0.0:0.0:1.0	.	303;297	B4DG66;Q13625	.;ASPP2_HUMAN	G	174;303	ENSP00000375750:E174G;ENSP00000341957:E303G	ENSP00000341957:E303G	E	-	2	0	TP53BP2	222057144	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.974000	0.88039	2.098000	0.63641	0.533000	0.62120	GAA		0.433	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		C	223990521	T	C	223990521	3	2	202	1	0	0	0	0	1	0	0	0	16384	1783	62	4	2540	4	TP53BP2	1	223990521	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	6035000	223990521	25260100	19	11717											
PGBD5	79605	genome.wustl.edu	37	1	230472976	230472976	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:230472976T>A	ENST00000525115.1	-	4	769	c.746A>T	c.(745-747)aAg>aTg	p.K249M	PGBD5_ENST00000530424.1_5'Flank|PGBD5_ENST00000391860.1_Missense_Mutation_p.K203M|PGBD5_ENST00000321327.2_Missense_Mutation_p.K348M			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	249						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GAGCTGGGGCTTATTCTTCAG	0.572																																																0			1											64	56	58					1																	230472976		2203	4300	6503	228539599	SO:0001583	missense	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.746A>T	1.37:g.230472976T>A	ENSP00000431404:p.Lys249Met		228539599	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37		.	.	.	.	.	.	.	.	.	.	t	20.1	3.934375	0.73442	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18502	2.21;2.21;2.21	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04128	-1.0975	10	0.31617	T	0.26	-34.1128	15.0639	0.71977	0.0:0.0:0.0:1.0	.	249	Q8N414	PGBD5_HUMAN	M	203;348;249	ENSP00000375733:K203M;ENSP00000322530:K348M;ENSP00000431404:K249M	ENSP00000322530:K348M	K	-	2	0	PGBD5	228539599	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.767000	0.85331	1.950000	0.56595	0.477000	0.44152	AAG		0.572	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		A	230472976	T	A	230472976	3	1	202	1	0	0	0	0	1	0	0	0	11784	1609	56	5	637	5	PGBD5	1	230472976	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	6482455	230472976	18777645	20	11718											
HNRNPU	3192	genome.wustl.edu	37	1	245018790	245018790	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr1:245018790C>A	ENST00000283179.9	-	12	2451	c.2288G>T	c.(2287-2289)gGt>gTt	p.G763V	HNRNPU_ENST00000444376.2_Missense_Mutation_p.G744V|HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU-AS1_ENST00000489705.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	763	Gly-rich.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGAGTAACTACCACGGCCAGG	0.502																																					NSCLC(33;911 1010 3329 23631 49995)											0			1											163	162	162					1																	245018790		2203	4300	6503	243085413	SO:0001583	missense	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2288G>T	1.37:g.245018790C>A	ENSP00000283179:p.Gly763Val		243085413	O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258810	0.80246	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.52295	0.68;0.67	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.994;0.994	T	0.63506	-0.6622	10	0.62326	D	0.03	-10.0637	19.4189	0.94712	0.0:1.0:0.0:0.0	.	744;763;487	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	V	744;763;688	ENSP00000393151:G744V;ENSP00000283179:G763V	ENSP00000283179:G763V	G	-	2	0	HNRNPU	243085413	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.944000	0.70219	2.584000	0.87258	0.591000	0.81541	GGT		0.502	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		A	245018790	C	A	245018790	3	1	202	1	0	0	0	0	1	0	0	0	7273	507	18	3	201	3	HNRNPU	1	245018790	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	14545814	245018790	4231831	21	11719											
APOB	338	genome.wustl.edu	37	2	21225627	21225627	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:21225627C>G	ENST00000233242.1	-	29	12794	c.12667G>C	c.(12667-12669)Gag>Cag	p.E4223Q	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4223					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCTACCTCCCTTATGAAC	0.428																																																0			2											78	81	80					2																	21225627		2203	4300	6503	21079132	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12667G>C	2.37:g.21225627C>G	ENSP00000233242:p.Glu4223Gln		21079132	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092247	0.36952	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00730	5.77	5.84	1.76	0.24704	.	0.312951	0.27245	N	0.020254	T	0.00875	0.0029	L	0.49126	1.545	0.18873	N	0.999989	B	0.26195	0.144	B	0.18263	0.021	T	0.47341	-0.9125	10	0.46703	T	0.11	.	5.8614	0.18749	0.0:0.4366:0.1437:0.4197	.	4223	P04114	APOB_HUMAN	Q	4223	ENSP00000233242:E4223Q	ENSP00000233242:E4223Q	E	-	1	0	APOB	21079132	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.132000	0.15891	0.391000	0.25143	0.655000	0.94253	GAG		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21225627	C	G	21225627	3	3	202	1	0	0	0	0	1	0	0	0	785	864	30	3	1028	3	APOB	2	21225627	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09		21225627	221973746	22	11720											
FKBP1B	2281	genome.wustl.edu	37	2	24285961	24285961	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:24285961A>G	ENST00000380986.4	+	4	362	c.226A>G	c.(226-228)Acc>Gcc	p.T76A	FKBP1B_ENST00000452109.1_Missense_Mutation_p.T47A|FKBP1B_ENST00000380991.4_3'UTR	NM_004116.3|NM_054033.2	NP_004107.1|NP_473374.1	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	76	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				'de novo' protein folding (GO:0006458)|calcium ion transmembrane transport (GO:0070588)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|chaperone-mediated protein folding (GO:0061077)|cytosolic calcium ion homeostasis (GO:0051480)|insulin secretion (GO:0030073)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neuronal action potential propagation (GO:0019227)|positive regulation of axon regeneration (GO:0048680)|positive regulation of sequestering of calcium ion (GO:0051284)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to redox state (GO:0051775)|response to vitamin E (GO:0033197)|smooth muscle contraction (GO:0006939)|T cell proliferation (GO:0042098)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium channel inhibitor activity (GO:0019855)|cyclic nucleotide binding (GO:0030551)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|receptor binding (GO:0005102)			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGAAGCTGACCTGCACCCC	0.552																																																0			2											75	64	67					2																	24285961		2203	4300	6503	24139465	SO:0001583	missense	2281			D38037	CCDS1706.1, CCDS33153.1	2p23.3	2013-03-20	2002-08-29		ENSG00000119782	ENSG00000119782			3712	protein-coding gene	gene with protein product	"calstabin 2"	600620	"FK506-binding protein 1B (12.6 kD)"	FKBP1L		7513996	Standard	NM_004116		Approved	OTK4, FKBP12.6, PPIase, FKBP9	uc002rer.3	P68106	OTTHUMG00000151889	ENST00000380986.4:c.226A>G	2.37:g.24285961A>G	ENSP00000370373:p.Thr76Ala		24139465	Q13664|Q16645|Q53TM2|Q9BQ40	Missense_Mutation	SNP	ENST00000380986.4	37	CCDS1706.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830774	0.91036	.	.	ENSG00000119782	ENST00000380986;ENST00000452109	T;T	0.49720	0.77;0.77	5.29	5.29	0.74685	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	M	0.77313	2.365	0.80722	D	1	P	0.48230	0.907	P	0.53313	0.723	T	0.69053	-0.5247	10	0.72032	D	0.01	-21.5631	15.5181	0.75840	1.0:0.0:0.0:0.0	.	76	P68106	FKB1B_HUMAN	A	76;47	ENSP00000370373:T76A;ENSP00000406593:T47A	ENSP00000370373:T76A	T	+	1	0	FKBP1B	24139465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.124000	0.65301	0.460000	0.39030	ACC		0.552	FKBP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207622.1	NM_004116		G	24285961	A	G	24285961	3	3	202	1	0	0	0	0	1	0	0	0	5907	275	10	4	285	4	FKBP1B	2	24285961	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	3060334	24285961	218913412	23	11721											
VIT	5212	genome.wustl.edu	37	2	37035991	37035991	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:37035991C>T	ENST00000389975.3	+	14	2023	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	VIT_ENST00000497382.1_Missense_Mutation_p.T243M|VIT_ENST00000379242.3_Missense_Mutation_p.T589M|VIT_ENST00000379241.3_Missense_Mutation_p.T552M|VIT_ENST00000404084.1_Missense_Mutation_p.T526M|VIT_ENST00000401530.1_Missense_Mutation_p.T553M	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	574	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCACCAGCACGGGGGCTGCC	0.567																																																0			2											75	71	72					2																	37035991		2203	4300	6503	36889495	SO:0001583	missense	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1721C>T	2.37:g.37035991C>T	ENSP00000374625:p.Thr574Met		36889495	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081717	0.76528	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.51	5.51	0.81932	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	M	0.93241	3.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96214	0.9155	10	0.72032	D	0.01	-14.9356	19.4545	0.94882	0.0:1.0:0.0:0.0	.	553;552;574;589	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	M	589;574;243;526;552;553	ENSP00000368544:T589M;ENSP00000374625:T574M;ENSP00000417874:T243M;ENSP00000384154:T526M;ENSP00000368543:T552M;ENSP00000385658:T553M	ENSP00000368543:T552M	T	+	2	0	VIT	36889495	1.000000	0.71417	0.971000	0.41717	0.509000	0.34042	7.786000	0.85741	2.590000	0.87494	0.650000	0.86243	ACG		0.567	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				T	37035991	C	T	37035991	3	4	202	1	0	0	0	0	1	0	0	0	17171	536	19	1	1945	1	VIT	2	37035991	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	12750030	37035991	206163382	24	11722											
PSD4	23550	genome.wustl.edu	37	2	113951510	113951510	+	Silent	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:113951510C>G	ENST00000245796.6	+	10	2361	c.2166C>G	c.(2164-2166)ccC>ccG	p.P722P	PSD4_ENST00000441564.3_Silent_p.P694P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	722	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAACTTCCCCAAGGAGCTGC	0.537																																																0			2											94	91	92					2																	113951510		2203	4300	6503	113667981	SO:0001819	synonymous_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2166C>G	2.37:g.113951510C>G			113667981	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																				0.537	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		G	113951510	C	G	113951510	2	3	202	1	0	0	0	0	0	0	0	1	12652	581	21	3		3	PSD4	2	113951510	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	76915519	113951510	129247863	25	11723											
BIN1	274	genome.wustl.edu	37	2	127818189	127818189	+	Intron	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:127818189C>A	ENST00000316724.5	-	11	1269				BIN1_ENST00000376113.2_Silent_p.L264L|BIN1_ENST00000357970.3_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000259238.4_Silent_p.L264L|BIN1_ENST00000352848.3_Silent_p.L264L|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000346226.3_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCTTTCTGCGCAGCCGCGAAA	0.632																																																0			2											117	109	112					2																	127818189		2203	4300	6503	127534659	SO:0001627	intron_variant	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.858-1458G>T	2.37:g.127818189C>A			127534659	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	CCDS2138.1																																																																																				0.632	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		A	127818189	C	A	127818189	1	1	202	0	1	0	0	0	0	0	0	0	1432	697	25	3		3	BIN1	2	127818189	Intron	SNP	C	TCGA-23-2649-01A-01D-1526-09	13866679	127818189	115381184	26	11724											
LCT	3938	genome.wustl.edu	37	2	136558238	136558238	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:136558238C>A	ENST00000264162.2	-	12	4815	c.4805G>T	c.(4804-4806)tGg>tTg	p.W1602L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1602	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGGTTCAGCCCAGTCACTGCT	0.522																																																0			2											113	107	109					2																	136558238		2203	4300	6503	136274708	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4805G>T	2.37:g.136558238C>A	ENSP00000264162:p.Trp1602Leu		136274708	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349804	0.95830	.	.	ENSG00000115850	ENST00000264162	T	0.31510	1.49	5.73	5.73	0.89815	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.89414	3.03	0.80722	D	1	D	0.61080	0.989	D	0.71184	0.972	T	0.70249	-0.4924	10	0.87932	D	0	-11.6774	19.9019	0.96988	0.0:1.0:0.0:0.0	.	1602	P09848	LPH_HUMAN	L	1602	ENSP00000264162:W1602L	ENSP00000264162:W1602L	W	-	2	0	LCT	136274708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.706000	0.92434	0.563000	0.77884	TGG		0.522	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136558238	C	A	136558238	3	1	202	1	0	0	0	0	1	0	0	0	8693	595	21	3	1002	3	LCT	2	136558238	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	8740049	136558238	106641135	27	11725											
TTC21B	79809	genome.wustl.edu	37	2	166737246	166737246	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:166737246C>T	ENST00000243344.7	-	27	3885	c.3748G>A	c.(3748-3750)Gct>Act	p.A1250T	TTC21B_ENST00000536175.1_Missense_Mutation_p.A188T	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1250					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTCAAGGCAGCATCTGTATAT	0.368																																																0			2											124	114	117					2																	166737246		2203	4300	6503	166445492	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3748G>A	2.37:g.166737246C>T	ENSP00000243344:p.Ala1250Thr		166445492	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045321	0.93685	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.73152	-0.72;-0.72	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.044953	0.85682	D	0.000000	D	0.88381	0.6421	H	0.95043	3.615	0.80722	D	1	D	0.67145	0.996	P	0.60236	0.871	D	0.91044	0.4873	10	0.87932	D	0	-18.4163	20.2441	0.98394	0.0:1.0:0.0:0.0	.	1250	Q7Z4L5	TT21B_HUMAN	T	188;1250	ENSP00000438692:A188T;ENSP00000243344:A1250T	ENSP00000243344:A1250T	A	-	1	0	TTC21B	166445492	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.583000	0.82559	2.865000	0.98341	0.655000	0.94253	GCT		0.368	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		T	166737246	C	T	166737246	3	4	202	1	0	0	0	0	1	0	0	0	16688	710	25	2	214	2	TTC21B	2	166737246	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	30179008	166737246	76462127	28	11726											
HNRNPA3	220988	genome.wustl.edu	37	2	178083987	178083987	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:178083987C>G	ENST00000392524.2	+	10	1334	c.1097C>G	c.(1096-1098)tCt>tGt	p.S366C	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.S344C|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.S366C			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	366	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGTTATGGATCTGGTGGTGGA	0.303																																																0			2											68	72	71					2																	178083987		2203	4300	6503	177792233	SO:0001583	missense	220988			AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"RNA binding motif (RRM) containing"	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.1097C>G	2.37:g.178083987C>G	ENSP00000376309:p.Ser366Cys		177792233	D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	c	12.50	1.956385	0.34565	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711;ENST00000432457	D;D;D;T	0.85773	-1.94;-2.03;-1.94;0.73	4.73	4.73	0.59995	.	0.000000	0.46758	D	0.000278	D	0.90490	0.7021	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	D	0.91095	0.4910	10	0.56958	D	0.05	.	18.1088	0.89528	0.0:1.0:0.0:0.0	.	344;366	B4DDB6;P51991	.;ROA3_HUMAN	C	366;344;310;311;366;103	ENSP00000376309:S366C;ENSP00000408487:S344C;ENSP00000416340:S366C;ENSP00000400688:S103C	ENSP00000376309:S366C	S	+	2	0	HNRNPA3	177792233	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.205000	0.58466	2.353000	0.79882	0.580000	0.79431	TCT		0.303	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		G	178083987	C	G	178083987	3	3	202	1	0	0	0	0	1	0	0	0	7260	913	32	3	1135	3	HNRNPA3	2	178083987	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	11346741	178083987	65115386	29	11727											
FN1	2335	genome.wustl.edu	37	2	216288916	216288916	+	Missense_Mutation	SNP	G	G	A	rs201876289		TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:216288916G>A	ENST00000359671.1	-	8	1434	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L	FN1_ENST00000432072.2_Missense_Mutation_p.S390L|FN1_ENST00000421182.1_Missense_Mutation_p.S390L|FN1_ENST00000345488.5_Missense_Mutation_p.S390L|FN1_ENST00000357867.4_Missense_Mutation_p.S390L|FN1_ENST00000446046.1_Missense_Mutation_p.S390L|FN1_ENST00000443816.1_Missense_Mutation_p.S390L|FN1_ENST00000426059.1_Missense_Mutation_p.S390L|FN1_ENST00000354785.4_Missense_Mutation_p.S390L|FN1_ENST00000323926.6_Missense_Mutation_p.S390L|FN1_ENST00000356005.4_Missense_Mutation_p.S390L|FN1_ENST00000336916.4_Missense_Mutation_p.S390L|FN1_ENST00000346544.3_Missense_Mutation_p.S390L|FN1_ENST00000357009.2_Missense_Mutation_p.S390L			P02751	FINC_HUMAN	fibronectin 1	390	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				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)		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)	CTCATAATTCGAAGTTGTGCT	0.512																																																0			2											181	146	158					2																	216288916		2203	4300	6503	215997161	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.1169C>T	2.37:g.216288916G>A	ENSP00000352696:p.Ser390Leu		215997161	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		.	.	.	.	.	.	.	.	.	.	G	34	5.353524	0.95830	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.97	5.09	0.68999	.	0.093361	0.46758	D	0.000264	T	0.66577	0.2803	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.988;0.988;0.991;1.0;0.999;0.988;0.988;0.999	D;D;D;B;B;P;D;P;B;B;D	0.91635	0.999;0.991;0.989;0.383;0.383;0.517;0.999;0.875;0.383;0.383;0.993	T	0.70539	-0.4844	10	0.87932	D	0	.	17.1998	0.86902	0.0:0.1261:0.8739:0.0	.	390;390;390;390;390;390;390;390;390;390;390	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	L	390	ENSP00000394423:S390L;ENSP00000323534:S390L;ENSP00000338200:S390L;ENSP00000350534:S390L;ENSP00000346839:S390L;ENSP00000352696:S390L;ENSP00000265312:S390L;ENSP00000273049:S390L;ENSP00000349509:S390L;ENSP00000410422:S390L;ENSP00000415018:S390L;ENSP00000399538:S390L;ENSP00000348285:S390L;ENSP00000398907:S390L	ENSP00000265313:S390L	S	-	2	0	FN1	215997161	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.333000	0.72939	1.513000	0.48852	0.655000	0.94253	TCG		0.512	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		A	216288916	G	A	216288916	3	1	202	1	0	0	0	0	1	0	0	0	5962	1059	37	1	6453	1	FN1	2	216288916	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	38204929	216288916	26910457	30	11728											
SLC11A1	6556	genome.wustl.edu	37	2	219259733	219259733	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:219259733A>T	ENST00000233202.6	+	15	1968	c.1628A>T	c.(1627-1629)gAc>gTc	p.D543V	SLC11A1_ENST00000539932.1_Missense_Mutation_p.D425V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	543			D -> N (associated with susceptibility to infection with Mycobacterium ulcerans; dbSNP:rs17235409). {ECO:0000269|PubMed:7717395}.		activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGAAGAGGACCAGAAAGGG	0.642																																																0			2											39	32	35					2																	219259733		2203	4300	6503	218967977	SO:0001583	missense	6556			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1628A>T	2.37:g.219259733A>T	ENSP00000233202:p.Asp543Val		218967977	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.116512	0.37339	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.22336	1.96;1.96	5.67	-3.15	0.05233	.	1.151050	0.06269	N	0.695294	T	0.11281	0.0275	N	0.22421	0.69	0.09310	N	1	B;B	0.20164	0.042;0.017	B;B	0.19946	0.027;0.027	T	0.36841	-0.9731	10	0.59425	D	0.04	0.034	0.2496	0.00203	0.3321:0.1438:0.2454:0.2787	.	425;543	C0H5Y3;P49279	.;NRAM1_HUMAN	V	543;425	ENSP00000233202:D543V;ENSP00000443435:D425V	ENSP00000233202:D543V	D	+	2	0	SLC11A1	218967977	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.233000	0.17911	-0.418000	0.07450	-0.379000	0.06801	GAC		0.642	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		T	219259733	A	T	219259733	3	4	202	1	0	0	0	0	1	0	0	0	14383	275	10	5	1686	5	SLC11A1	2	219259733	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	2970817	219259733	23939640	31	11729											
MFF	56947	genome.wustl.edu	37	2	228217244	228217244	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:228217244G>C	ENST00000353339.3	+	9	1208	c.767G>C	c.(766-768)gGt>gCt	p.G256A	MFF_ENST00000409565.1_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000349901.7_Missense_Mutation_p.G152A|MFF_ENST00000304593.9_Missense_Mutation_p.G205A|MFF_ENST00000337110.7_Intron|MFF_ENST00000409616.1_Missense_Mutation_p.G152A|MFF_ENST00000392059.1_Missense_Mutation_p.G256A|MFF_ENST00000524634.1_Intron|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	256					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GTGTTGCGTGGTGGGTCTGCT	0.423																																																0			2											111	101	104					2																	228217244		2203	4300	6503	227925488	SO:0001583	missense	56947			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.767G>C	2.37:g.228217244G>C	ENSP00000302037:p.Gly256Ala		227925488	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003780	0.93287	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000409616;ENST00000349901;ENST00000392059	T;T	0.35048	1.33;1.33	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.56769	1.78	0.58432	D	0.999999	B;D;D	0.89917	0.044;1.0;0.996	B;D;P	0.87578	0.026;0.998;0.905	T	0.40270	-0.9572	10	0.06365	T	0.9	-15.7951	20.8598	0.99761	0.0:0.0:1.0:0.0	.	152;205;256	Q9GZY8-5;Q9GZY8-2;Q9GZY8	.;.;MFF_HUMAN	A	205;256;152;152;256	ENSP00000302037:G256A;ENSP00000375912:G256A	ENSP00000304898:G205A	G	+	2	0	MFF	227925488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.473000	0.73572	2.937000	0.99478	0.650000	0.86243	GGT		0.423	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		C	228217244	G	C	228217244	3	2	202	1	0	0	0	0	1	0	0	0	9519	1261	44	3	793	3	MFF	2	228217244	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	8957511	228217244	14982129	32	11730											
DGKD	8527	genome.wustl.edu	37	2	234366988	234366988	+	Missense_Mutation	SNP	G	G	C	rs200902302		TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:234366988G>C	ENST00000264057.2	+	22	2651	c.2639G>C	c.(2638-2640)aGc>aCc	p.S880T	DGKD_ENST00000409813.3_Missense_Mutation_p.S836T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	880					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTGTTCGGCAGCATGCAGATG	0.597																																																0			2											142	101	115					2																	234366988		2203	4300	6503	234031727	SO:0001583	missense	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2639G>C	2.37:g.234366988G>C	ENSP00000264057:p.Ser880Thr		234031727	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623349	0.87460	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.29655	1.56;1.56	3.51	3.51	0.40186	Diacylglycerol kinase, accessory domain (2);	0.052045	0.85682	N	0.000000	T	0.41236	0.1150	L	0.35854	1.095	0.43145	D	0.994907	P;P	0.50272	0.724;0.933	B;P	0.58391	0.263;0.838	T	0.37776	-0.9691	10	0.49607	T	0.09	.	16.3329	0.83049	0.0:0.0:1.0:0.0	.	836;880	Q16760-2;Q16760	.;DGKD_HUMAN	T	880;836	ENSP00000264057:S880T;ENSP00000386455:S836T	ENSP00000264057:S880T	S	+	2	0	DGKD	234031727	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.623000	0.98386	2.276000	0.75962	0.555000	0.69702	AGC		0.597	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		C	234366988	G	C	234366988	3	2	202	1	0	0	0	0	1	0	0	0	4467	971	34	3	2749	3	DGKD	2	234366988	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	6149744	234366988	8832385	33	11731											
GPC1	2817	genome.wustl.edu	37	2	241402904	241402904	+	Silent	SNP	G	G	C	rs375213101		TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr2:241402904G>C	ENST00000264039.2	+	4	1106	c.858G>C	c.(856-858)ctG>ctC	p.L286L		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	286					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		AGGCCGACCTGGACGCCGAGT	0.682																																																0			2											56	58	58					2																	241402904		2201	4300	6501	241051577	SO:0001819	synonymous_variant	2817			AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.858G>C	2.37:g.241402904G>C			241051577	B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.660|9.660	1.143794|1.143794	0.21205|0.21205	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138;ENST00000455111|ENST00000425056	.|.	.|.	.|.	3.87|3.87	2.02|2.02	0.26589|0.26589	.|.	.|.	.|.	.|.	.|.	T|T	0.54647|0.54647	0.1871|0.1871	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44772|0.44772	-0.9306|-0.9306	4|4	.|.	.|.	.|.	-18.8866|-18.8866	6.8826|6.8826	0.24181|0.24181	0.1059:0.1925:0.7016:0.0|0.1059:0.1925:0.7016:0.0	.|.	.|.	.|.	.|.	R|S	326;31|282	.|.	.|.	G|W	+|+	1|2	0|0	GPC1|GPC1	241051577|241051577	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.862000|0.862000	0.49288|0.49288	0.352000|0.352000	0.20113|0.20113	0.402000|0.402000	0.25451|0.25451	0.478000|0.478000	0.44815|0.44815	GGA|TGG		0.682	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		C	241402904	G	C	241402904	2	2	202	1	0	0	0	0	0	0	0	1	6597	1335	47	3		3	GPC1	2	241402904	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09	7035916	241402904	1796469	34	11732											
EAF1	85403	genome.wustl.edu	37	3	15477870	15477870	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr3:15477870T>G	ENST00000396842.2	+	5	973	c.548T>G	c.(547-549)aTt>aGt	p.I183S	EAF1-AS1_ENST00000494875.3_RNA|EAF1_ENST00000432764.2_Missense_Mutation_p.I82S|EAF1-AS1_ENST00000596371.1_RNA|EAF1-AS1_ENST00000609310.1_RNA|EAF1-AS1_ENST00000608780.1_RNA|EAF1-AS1_ENST00000597949.1_RNA|EAF1-AS1_ENST00000595627.1_RNA|EAF1-AS1_ENST00000595975.1_RNA|EAF1-AS1_ENST00000594820.1_RNA|EAF1-AS1_ENST00000593876.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	183	Necessary for transactivation activity.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GAAGTTGACATTATTGAACAA	0.473																																																0			3											46	47	47					3																	15477870		2203	4300	6503	15452874	SO:0001583	missense	85403			AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.548T>G	3.37:g.15477870T>G	ENSP00000380054:p.Ile183Ser		15452874	B4E3F5|Q8IW10	Missense_Mutation	SNP	ENST00000396842.2	37	CCDS2626.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.368948	0.82463	.	.	ENSG00000144597	ENST00000396842;ENST00000432764	.	.	.	5.65	5.65	0.86999	.	0.301064	0.40818	N	0.001011	T	0.53562	0.1804	L	0.56769	1.78	0.50813	D	0.999897	P;B	0.41450	0.75;0.063	B;B	0.36335	0.222;0.026	T	0.59300	-0.7480	9	0.52906	T	0.07	-6.2183	14.8502	0.70292	0.0:0.0:0.0:1.0	.	82;183	B4E3F5;Q96JC9	.;EAF1_HUMAN	S	183;82	.	ENSP00000380054:I183S	I	+	2	0	EAF1	15452874	1.000000	0.71417	0.939000	0.37840	0.896000	0.52359	7.698000	0.84413	2.150000	0.67090	0.397000	0.26171	ATT		0.473	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252100.4	NM_033083		G	15477870	T	G	15477870	3	3	202	1	0	0	0	0	1	0	0	0	4875	1493	52	5	566	5	EAF1	3	15477870	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09		15477870	182544560	35	11733											
EXOG	9941	genome.wustl.edu	37	3	38542913	38542913	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr3:38542913C>G	ENST00000287675.5	+	3	477	c.381C>G	c.(379-381)ttC>ttG	p.F127L	EXOG_ENST00000422077.2_Missense_Mutation_p.F77L|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	127					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TCAGTGCCTTCAATGAAGATT	0.428																																																0			3											136	129	132					3																	38542913		2203	4300	6503	38517917	SO:0001583	missense	9941			AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"endonuclease G-like 1", "endonuclease G-like 2"	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.381C>G	3.37:g.38542913C>G	ENSP00000287675:p.Phe127Leu		38517917	A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	CCDS2680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.99|15.99	2.994224|2.994224	0.54041|0.54041	.|.	.|.	ENSG00000157036|ENSG00000157036	ENST00000287675;ENST00000422077|ENST00000453767	T;T|.	0.63744|.	-0.06;-0.06|.	4.91|4.91	1.94|1.94	0.25998|0.25998	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);|.	1.328060|.	0.04638|.	N|.	0.404782|.	T|T	0.12263|0.12263	0.0298|0.0298	N|N	0.00483|0.00483	-1.445|-1.445	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.06991|0.06991	-1.0796|-1.0796	10|5	0.08381|.	T|.	0.77|.	-0.0039|-0.0039	5.8903|5.8903	0.18909|0.18909	0.1321:0.4132:0.3829:0.0719|0.1321:0.4132:0.3829:0.0719	.|.	77;127|.	Q9Y2C4-4;Q9Y2C4|.	.;EXOG_HUMAN|.	L|E	127;77|90	ENSP00000287675:F127L;ENSP00000404305:F77L|.	ENSP00000287675:F127L|.	F|Q	+|+	3|1	2|0	EXOG|EXOG	38517917|38517917	0.444000|0.444000	0.25649|0.25649	0.968000|0.968000	0.41197|0.41197	0.939000|0.939000	0.58152|0.58152	0.709000|0.709000	0.25734|0.25734	0.645000|0.645000	0.30675|0.30675	0.467000|0.467000	0.42956|0.42956	TTC|CAA		0.428	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		G	38542913	C	G	38542913	3	3	202	1	0	0	0	0	1	0	0	0	5312	825	29	3	391	3	EXOG	3	38542913	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	23065043	38542913	159479517	36	11734											
TDGF1	6997	genome.wustl.edu	37	3	46622701	46622701	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr3:46622701G>T	ENST00000296145.5	+	6	1261	c.528G>T	c.(526-528)atG>atT	p.M176I	TDGF1_ENST00000542931.1_Missense_Mutation_p.M160I|LRRC2_ENST00000296144.3_5'Flank	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	176					activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCACTTTTATGCTAGTTGGCA	0.433																																																0			3											145	126	132					3																	46622701		2203	4300	6503	46597705	SO:0001583	missense	6997			M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.528G>T	3.37:g.46622701G>T	ENSP00000296145:p.Met176Ile		46597705	Q8TCC1	Missense_Mutation	SNP	ENST00000296145.5	37	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028031	0.35797	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	T;T	0.63744	-0.04;-0.06	4.13	1.31	0.21738	.	0.763982	0.12418	N	0.470686	T	0.40886	0.1135	N	0.24115	0.695	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.20571	-1.0271	10	0.33940	T	0.23	.	2.9478	0.05852	0.0995:0.1783:0.5379:0.1843	.	176	P13385	TDGF1_HUMAN	I	160;176	ENSP00000446375:M160I;ENSP00000296145:M176I	ENSP00000296145:M176I	M	+	3	0	AC104304.1	46597705	0.034000	0.19679	0.018000	0.16275	0.508000	0.34012	0.220000	0.17660	0.279000	0.22186	0.655000	0.94253	ATG		0.433	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2	NM_003212		T	46622701	G	T	46622701	3	4	202	1	0	0	0	0	1	0	0	0	15726	1319	46	3	550	3	TDGF1	3	46622701	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	8079788	46622701	151399729	37	11735											
LAMB2	3913	genome.wustl.edu	37	3	49159178	49159178	+	Missense_Mutation	SNP	G	G	A	rs141473691	byFrequency	TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr3:49159178G>A	ENST00000418109.1	-	31	5203	c.5039C>T	c.(5038-5040)gCa>gTa	p.A1680V	USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.A1680V|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000398898.2_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1680	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTAGAGGCTGCCAGACTATT	0.612																																																0			3						G	VAL/ALA	0,4406		0,0,2203	75	77	76		5039	4.6	1	3	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LAMB2	NM_002292.3	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	1680/1799	49159178	3,13003	2203	4300	6503	49134182	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.5039C>T	3.37:g.49159178G>A	ENSP00000388325:p.Ala1680Val		49134182	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704453	0.48412	0.0	3.49E-4	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35048	1.33;1.33	5.55	4.59	0.56863	.	0.174918	0.49305	D	0.000154	T	0.36441	0.0967	L	0.53249	1.67	0.52099	D	0.999946	B	0.30851	0.297	B	0.31390	0.129	T	0.15983	-1.0418	10	0.32370	T	0.25	.	17.0977	0.86639	0.0:0.0:0.8647:0.1353	.	1680	P55268	LAMB2_HUMAN	V	1680	ENSP00000388325:A1680V;ENSP00000307156:A1680V	ENSP00000307156:A1680V	A	-	2	0	LAMB2	49134182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.362000	0.44169	2.620000	0.88729	0.655000	0.94253	GCA		0.612	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		A	49159178	G	A	49159178	3	1	202	1	0	0	0	0	1	0	0	0	8611	1319	46	2	369	2	LAMB2	3	49159178	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	2536477	49159178	148863252	38	11736											
GPR128	84873	genome.wustl.edu	37	3	100373784	100373784	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr3:100373784C>A	ENST00000273352.3	+	12	1753	c.1485C>A	c.(1483-1485)aaC>aaA	p.N495K	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.N200K	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	495					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CCAATAAGAACTTGCAGACAA	0.393																																					Pancreas(87;185 1975 7223 18722)											0			3											143	130	134					3																	100373784		2203	4300	6503	101856474	SO:0001583	missense	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1485C>A	3.37:g.100373784C>A	ENSP00000273352:p.Asn495Lys		101856474	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.411169	0.00191	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.40476	1.03;1.03	4.61	1.76	0.24704	GPCR, family 2-like (1);	0.492266	0.21899	N	0.067474	T	0.27594	0.0678	L	0.45137	1.4	0.09310	N	0.999999	B;B	0.25772	0.064;0.134	B;B	0.27170	0.031;0.077	T	0.30327	-0.9982	10	0.07030	T	0.85	.	6.7314	0.23385	0.1446:0.6797:0.0:0.1757	.	200;495	E9PHI0;Q96K78	.;GP128_HUMAN	K	495;200	ENSP00000273352:N495K;ENSP00000419788:N200K	ENSP00000273352:N495K	N	+	3	2	GPR128	101856474	0.008000	0.16893	0.064000	0.19789	0.101000	0.19017	0.619000	0.24388	-0.003000	0.14444	-0.797000	0.03246	AAC		0.393	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			A	100373784	C	A	100373784	3	1	202	1	0	0	0	0	1	0	0	0	6641	564	20	3	1531	3	GPR128	3	100373784	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	51214606	100373784	97648646	39	11737											
SEMA5B	54437	genome.wustl.edu	37	3	122632161	122632161	+	Silent	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr3:122632161C>T	ENST00000357599.3	-	17	2777	c.2391G>A	c.(2389-2391)cgG>cgA	p.R797R	SEMA5B_ENST00000451055.2_Silent_p.R851R|SEMA5B_ENST00000195173.4_Silent_p.R796R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	797					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGAAGCGGAACCGCTGCTCCT	0.731																																																0			3											7	9	9					3																	122632161		2136	4199	6335	124114851	SO:0001819	synonymous_variant	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2391G>A	3.37:g.122632161C>T			124114851	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	CCDS35491.1																																																																																				0.731	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		T	122632161	C	T	122632161	2	4	202	1	0	0	0	0	0	0	0	1	14041	494	18	2		2	SEMA5B	3	122632161	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	22258377	122632161	75390269	40	11738											
MCM2	4171	genome.wustl.edu	37	3	127337955	127337955	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr3:127337955G>T	ENST00000265056.7	+	13	2343	c.2099G>T	c.(2098-2100)aGc>aTc	p.S700I	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	700					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GCCAATGGCAGCGCTGCTGAG	0.632																																																0			3											37	32	34					3																	127337955		2203	4300	6503	128820645	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2099G>T	3.37:g.127337955G>T	ENSP00000265056:p.Ser700Ile		128820645	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.846|3.846	-0.032893|-0.032893	0.07543|0.07543	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.02631	.|4.22	5.61|5.61	2.52|2.52	0.30459|0.30459	.|.	.|1.518360	.|0.03083	.|N	.|0.158813	T|T	0.05777|0.05777	0.0151|0.0151	M|M	0.65320|0.65320	2|2	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.32526	.|0.374;0.017;0.032	.|B;B;B	.|0.33042	.|0.157;0.032;0.048	T|T	0.44967|0.44967	-0.9293|-0.9293	5|10	.|0.37606	.|T	.|0.19	-11.2213|-11.2213	7.8119|7.8119	0.29237|0.29237	0.5314:0.0:0.4686:0.0|0.5314:0.0:0.4686:0.0	.|.	.|750;570;700	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	S|I	632|700;604;750	.|ENSP00000265056:S700I	.|ENSP00000265056:S700I	A|S	+|+	1|2	0|0	MCM2|MCM2	128820645|128820645	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.020000|0.020000	0.10135|0.10135	1.834000|1.834000	0.39171|0.39171	0.189000|0.189000	0.20188|0.20188	0.591000|0.591000	0.81541|0.81541	GCG|AGC		0.632	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			T	127337955	G	T	127337955	3	4	202	1	0	0	0	0	1	0	0	0	9386	971	34	3	2149	3	MCM2	3	127337955	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	4705794	127337955	70684475	41	11739											
C3orf36	80111	genome.wustl.edu	37	3	133647616	133647616	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr3:133647616T>A	ENST00000408895.2	-	1	1040	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	11										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						TAAGCCAGCCTCAAGACCCTC	0.627																																																0			3											43	45	44					3																	133647616		2182	4280	6462	135130306	SO:0001583	missense	80111			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.32A>T	3.37:g.133647616T>A	ENSP00000386219:p.Glu11Val		135130306	Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	T	8.864	0.947546	0.18356	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.21	-0.622	0.11560	.	.	.	.	.	T	0.19406	0.0466	N	0.08118	0	0.09310	N	1	P	0.45768	0.866	P	0.49276	0.605	T	0.14699	-1.0463	8	0.87932	D	0	.	4.926	0.13894	0.0:0.5197:0.0:0.4803	.	11	Q3SXR2	CC036_HUMAN	V	11	.	ENSP00000386219:E11V	E	-	2	0	C3orf36	135130306	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	-0.041000	0.12084	-0.147000	0.11254	-0.736000	0.03550	GAG		0.627	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		A	133647616	T	A	133647616	3	1	202	1	0	0	0	0	1	0	0	0	2226	1551	54	5	469	5	C3orf36	3	133647616	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	6309661	133647616	64374814	42	11740											
SI	6476	genome.wustl.edu	37	3	164725758	164725758	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr3:164725758T>C	ENST00000264382.3	-	36	4270	c.4208A>G	c.(4207-4209)aAt>aGt	p.N1403S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1403	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGTTGTTCCATTTACAAAACT	0.289										HNSCC(35;0.089)																																						0			3											142	145	144					3																	164725758		2202	4293	6495	166208452	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4208A>G	3.37:g.164725758T>C	ENSP00000264382:p.Asn1403Ser		166208452	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124469	0.37533	.	.	ENSG00000090402	ENST00000264382	D	0.88664	-2.41	5.06	3.9	0.45041	Glycoside hydrolase, superfamily (1);	0.270733	0.35436	N	0.003201	D	0.83275	0.5219	L	0.43923	1.385	0.35035	D	0.759122	B	0.06786	0.001	B	0.09377	0.004	T	0.81553	-0.0880	10	0.46703	T	0.11	.	9.2666	0.37645	0.0:0.0828:0.0:0.9172	.	1403	P14410	SUIS_HUMAN	S	1403	ENSP00000264382:N1403S	ENSP00000264382:N1403S	N	-	2	0	SI	166208452	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	3.930000	0.56522	0.951000	0.37770	0.477000	0.44152	AAT		0.289	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		C	164725758	T	C	164725758	3	2	202	1	0	0	0	0	1	0	0	0	14300	1493	52	4	1327	4	SI	3	164725758	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	31078142	164725758	33296672	43	11741											
C4orf35	85438	genome.wustl.edu	37	4	71201025	71201025	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr4:71201025C>G	ENST00000273936.5	+	1	343	c.269C>G	c.(268-270)aCt>aGt	p.T90S		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	90					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGTCAACAACTCACCTACAG	0.368																																																0			4											60	60	60					4																	71201025		2203	4299	6502	71235614	SO:0001583	missense	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.269C>G	4.37:g.71201025C>G	ENSP00000273936:p.Thr90Ser		71235614	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	C	6.864	0.528783	0.13127	.	.	ENSG00000145309	ENST00000273936	T	0.27720	1.65	4.42	4.42	0.53409	.	0.000000	0.38548	N	0.001642	T	0.40372	0.1114	L	0.32530	0.975	0.18873	N	0.999988	D	0.69078	0.997	P	0.62740	0.906	T	0.16129	-1.0413	10	0.87932	D	0	-25.5408	12.7151	0.57111	0.0:1.0:0.0:0.0	.	90	Q96KC9	CABS1_HUMAN	S	90	ENSP00000273936:T90S	ENSP00000273936:T90S	T	+	2	0	CABS1	71235614	0.003000	0.15002	0.530000	0.27963	0.083000	0.17756	0.919000	0.28692	2.461000	0.83175	0.561000	0.74099	ACT		0.368	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		G	71201025	C	G	71201025	3	3	202	1	0	0	0	0	1	0	0	0	2265	565	20	3	271	3	C4orf35	4	71201025	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09		71201025	119953251	44	11742											
AGPAT9	84803	genome.wustl.edu	37	4	84502751	84502751	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr4:84502751G>C	ENST00000395226.2	+	4	463	c.245G>C	c.(244-246)gGg>gCg	p.G82A	AGPAT9_ENST00000264409.4_Missense_Mutation_p.G82A	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	82					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				ATGGAAAAAGGGCTCTCTGGT	0.438																																																0			4											167	169	168					4																	84502751		2203	4300	6503	84721775	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.245G>C	4.37:g.84502751G>C	ENSP00000378651:p.Gly82Ala		84721775	Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.072066	0.20147	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.39997	1.05;1.05	5.66	4.81	0.61882	.	0.098399	0.64402	D	0.000002	T	0.29491	0.0735	L	0.50333	1.59	0.34189	D	0.671894	B	0.06786	0.001	B	0.04013	0.001	T	0.30736	-0.9968	10	0.12766	T	0.61	-18.6828	4.2114	0.10514	0.205:0.2022:0.5928:0.0	.	82	Q53EU6	GPAT3_HUMAN	A	82	ENSP00000378651:G82A;ENSP00000264409:G82A	ENSP00000264409:G82A	G	+	2	0	AGPAT9	84721775	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.495000	0.53280	2.693000	0.91896	0.644000	0.83932	GGG		0.438	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		C	84502751	G	C	84502751	3	2	202	1	0	0	0	0	1	0	0	0	392	1232	43	3	255	3	AGPAT9	4	84502751	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	13301726	84502751	106651525	45	11743											
TACR3	6870	genome.wustl.edu	37	4	104579400	104579400	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr4:104579400A>G	ENST00000304883.2	-	2	849	c.709T>C	c.(709-711)Tgg>Cgg	p.W237R		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	237					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCTTCTGGCCATTGCACAAAG	0.388																																																0			4											128	120	123					4																	104579400		2203	4300	6503	104798849	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.709T>C	4.37:g.104579400A>G	ENSP00000303325:p.Trp237Arg		104798849	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563326	0.86335	.	.	ENSG00000169836	ENST00000304883	T	0.37058	1.22	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.86805	2.84	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72124	-0.4385	10	0.72032	D	0.01	.	15.8218	0.78654	1.0:0.0:0.0:0.0	.	237	P29371	NK3R_HUMAN	R	237	ENSP00000303325:W237R	ENSP00000303325:W237R	W	-	1	0	TACR3	104798849	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	8.256000	0.89848	2.326000	0.78906	0.533000	0.62120	TGG		0.388	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		G	104579400	A	G	104579400	3	3	202	1	0	0	0	0	1	0	0	0	15507	217	8	4	704	4	TACR3	4	104579400	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	20076649	104579400	86574876	46	11744											
NPNT	255743	genome.wustl.edu	37	4	106888398	106888398	+	Missense_Mutation	SNP	C	C	G	rs371602917		TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr4:106888398C>G	ENST00000379987.2	+	11	1615	c.1399C>G	c.(1399-1401)Cgc>Ggc	p.R467G	NPNT_ENST00000506666.1_Missense_Mutation_p.R468G|NPNT_ENST00000305572.8_Missense_Mutation_p.R438G|NPNT_ENST00000427316.2_Missense_Mutation_p.R497G|NPNT_ENST00000453617.2_Missense_Mutation_p.R484G|NPNT_ENST00000514622.1_Missense_Mutation_p.R438G	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	467	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.R467C(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AAAAGCTGCACGCTTGGTGCT	0.572																																																1	Substitution - Missense(1)	prostate(1)	4											41	43	42					4																	106888398		2203	4300	6503	107107847	SO:0001583	missense	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1399C>G	4.37:g.106888398C>G	ENSP00000369323:p.Arg467Gly		107107847	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499977	0.64298	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	T;T;T;T;T;T;T	0.02552	4.25;4.25;4.25;4.25;4.25;4.25;4.25	4.65	4.65	0.58169	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.179037	0.50627	D	0.000103	T	0.20700	0.0498	M	0.89785	3.06	0.47123	D	0.99932	D;D;D;D;D;D	0.71674	0.992;0.997;0.998;0.998;0.99;0.998	P;D;D;D;P;D	0.79108	0.869;0.963;0.992;0.992;0.794;0.992	T	0.07328	-1.0778	10	0.87932	D	0	.	17.8945	0.88883	0.0:1.0:0.0:0.0	.	438;468;497;484;438;467	E9PF04;E9PE64;E9PCQ1;E9PCK8;Q6UXI9-2;Q6UXI9	.;.;.;.;.;NPNT_HUMAN	G	467;484;497;438;438;468;514	ENSP00000369323:R467G;ENSP00000402884:R484G;ENSP00000389252:R497G;ENSP00000422044:R438G;ENSP00000302557:R438G;ENSP00000422474:R468G;ENSP00000426146:R514G	ENSP00000302557:R438G	R	+	1	0	NPNT	107107847	1.000000	0.71417	0.929000	0.37066	0.273000	0.26683	5.309000	0.65774	2.294000	0.77228	0.650000	0.86243	CGC		0.572	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		G	106888398	C	G	106888398	3	3	202	1	0	0	0	0	1	0	0	0	10590	536	19	3	1590	3	NPNT	4	106888398	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	2308998	106888398	84265878	47	11745											
SLC6A3	6531	genome.wustl.edu	37	5	1441484	1441484	+	Silent	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:1441484G>A	ENST00000270349.9	-	3	535	c.408C>T	c.(406-408)ccC>ccT	p.P136P	SLC6A3_ENST00000453492.2_Silent_p.P136P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	136					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTTCAGTATGGGGCAGATCT	0.582																																																0			5											77	71	73					5																	1441484		2203	4300	6503	1494484	SO:0001819	synonymous_variant	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.408C>T	5.37:g.1441484G>A			1494484	A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	CCDS3863.1																																																																																				0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		A	1441484	G	A	1441484	2	1	202	1	0	0	0	0	0	0	0	1	14688	1335	47	2		2	SLC6A3	5	1441484	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09		1441484	179473776	48	11746											
MTRR	4552	genome.wustl.edu	37	5	7891483	7891483	+	Splice_Site	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:7891483A>G	ENST00000264668.2	+	10	1438		c.e10-1		MTRR_ENST00000440940.2_Splice_Site	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATTTTTTTCTAGAACATCTTC	0.264																																																0			5											79	80	80					5																	7891483		2203	4298	6501	7944483	SO:0001630	splice_region_variant	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1409-1A>G	5.37:g.7891483A>G			7944483	O60471|Q32MA9|Q7Z4M8	Splice_Site	SNP	ENST00000264668.2	37	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115254	0.56505	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.601	0.62020	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTRR	7944483	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.096000	0.76960	1.961000	0.56991	0.460000	0.39030	.		0.264	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1		Intron	G	7891483	A	G	7891483	5	3	202	1	0	0	0	0	0	0	1	0	9961	434	15	4	1445	4	MTRR	5	7891483	Splice_Site	SNP	A	TCGA-23-2649-01A-01D-1526-09	6449999	7891483	173023777	49	11747											
DNAH5	1767	genome.wustl.edu	37	5	13781064	13781064	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:13781064G>C	ENST00000265104.4	-	53	8929	c.8825C>G	c.(8824-8826)tCt>tGt	p.S2942C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2942	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATGACACGAGAGATCTGTAA	0.403									Kartagener syndrome																																							0			5											70	66	67					5																	13781064		2203	4300	6503	13834064	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8825C>G	5.37:g.13781064G>C	ENSP00000265104:p.Ser2942Cys		13834064	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126839	0.77549	.	.	ENSG00000039139	ENST00000265104	T	0.39406	1.08	5.56	5.56	0.83823	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66440	-0.5923	10	0.87932	D	0	.	19.5216	0.95187	0.0:0.0:1.0:0.0	.	2942	Q8TE73	DYH5_HUMAN	C	2942	ENSP00000265104:S2942C	ENSP00000265104:S2942C	S	-	2	0	DNAH5	13834064	1.000000	0.71417	0.982000	0.44146	0.527000	0.34593	9.691000	0.98679	2.605000	0.88082	0.655000	0.94253	TCT		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13781064	G	C	13781064	3	2	202	1	0	0	0	0	1	0	0	0	4604	942	33	3	5157	3	DNAH5	5	13781064	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	5889581	13781064	167134196	50	11748											
ADAMTS12	81792	genome.wustl.edu	37	5	33527447	33527447	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:33527447A>C	ENST00000504830.1	-	24	4966	c.4631T>G	c.(4630-4632)cTg>cGg	p.L1544R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L1459R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1544	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTGGCTGACAGTTTGTCCTT	0.428										HNSCC(64;0.19)																																						0			5											118	109	112					5																	33527447		2203	4300	6503	33563204	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4631T>G	5.37:g.33527447A>C	ENSP00000422554:p.Leu1544Arg		33563204	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069620	0.76301	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61392	0.14;0.11	5.93	5.93	0.95920	PLAC (1);	0.127371	0.51477	D	0.000083	T	0.74092	0.3671	M	0.75777	2.31	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.91635	0.999;0.997	T	0.74106	-0.3772	10	0.38643	T	0.18	.	12.7684	0.57405	1.0:0.0:0.0:0.0	.	1459;1544	P58397-3;P58397	.;ATS12_HUMAN	R	1544;1459	ENSP00000422554:L1544R;ENSP00000344847:L1459R	ENSP00000344847:L1459R	L	-	2	0	ADAMTS12	33563204	0.964000	0.33143	0.401000	0.26359	0.975000	0.68041	5.028000	0.64115	2.263000	0.75096	0.533000	0.62120	CTG		0.428	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		C	33527447	A	C	33527447	3	2	202	1	0	0	0	0	1	0	0	0	257	188	7	5	157	5	ADAMTS12	5	33527447	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	19746383	33527447	147387813	51	11749											
NIPBL	25836	genome.wustl.edu	37	5	37061025	37061025	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:37061025C>T	ENST00000282516.8	+	45	8264	c.7765C>T	c.(7765-7767)Cat>Tat	p.H2589Y	NIPBL_ENST00000448238.2_Missense_Mutation_p.H2589Y	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2589					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGTTCATTTTCATCCAAAACA	0.368																																																0			5											96	93	94					5																	37061025		2203	4300	6503	37096782	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7765C>T	5.37:g.37061025C>T	ENSP00000282516:p.His2589Tyr		37096782	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267121	0.40095	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92965	-3.14;-3.14	4.89	4.89	0.63831	.	0.056069	0.64402	D	0.000001	D	0.86657	0.5985	N	0.17082	0.46	0.43321	D	0.995341	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.11329	0.003;0.003;0.006	T	0.82327	-0.0512	10	0.52906	T	0.07	-11.8179	18.4096	0.90546	0.0:1.0:0.0:0.0	.	2589;2589;2589	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	Y	2589	ENSP00000282516:H2589Y;ENSP00000406266:H2589Y	ENSP00000282516:H2589Y	H	+	1	0	NIPBL	37096782	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.521000	0.45563	2.400000	0.81607	0.591000	0.81541	CAT		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		T	37061025	C	T	37061025	3	4	202	1	0	0	0	0	1	0	0	0	10428	826	29	2	7939	2	NIPBL	5	37061025	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	3533578	37061025	143854235	52	11750											
PELO	53918	genome.wustl.edu	37	5	52096887	52096887	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:52096887A>G	ENST00000274311.2	+	2	1644	c.659A>G	c.(658-660)tAc>tGc	p.Y220C	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	220					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TTCTGCGACTACCTGTTTCAA	0.473																																																0			5											65	66	66					5																	52096887		2203	4300	6503	52132644	SO:0001583	missense	53918				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.659A>G	5.37:g.52096887A>G	ENSP00000274311:p.Tyr220Cys		52132644	Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464579	0.63513	.	.	ENSG00000152684	ENST00000274311	T	0.52057	0.68	5.25	5.25	0.73442	eRF1 domain 2 (1);	0.077607	0.53938	U	0.000048	T	0.74160	0.3680	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80160	-0.1498	10	0.87932	D	0	-14.5789	10.2657	0.43453	0.8525:0.0:0.0:0.1475	.	220	Q9BRX2	PELO_HUMAN	C	220	ENSP00000274311:Y220C	ENSP00000274311:Y220C	Y	+	2	0	PELO	52132644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.265000	0.72534	2.210000	0.71456	0.460000	0.39030	TAC		0.473	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		G	52096887	A	G	52096887	3	3	202	1	0	0	0	0	1	0	0	0	11724	391	14	4	661	4	PELO	5	52096887	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	15035862	52096887	128818373	53	11751											
MARVELD2	153562	genome.wustl.edu	37	5	68728873	68728873	+	Silent	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:68728873C>T	ENST00000325631.5	+	5	1530	c.1456C>T	c.(1456-1458)Ctg>Ttg	p.L486L	MARVELD2_ENST00000413223.2_Silent_p.L370L	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	486					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GTTTGATGAGCTGGATGCAGT	0.468																																																0			5											136	127	130					5																	68728873		2203	4300	6503	68764629	SO:0001819	synonymous_variant	153562			AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1456C>T	5.37:g.68728873C>T			68764629	A1BQX0|A1BQX1|A8KA97|Q96NM9	Silent	SNP	ENST00000325631.5	37	CCDS34175.1																																																																																				0.468	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		T	68728873	C	T	68728873	2	4	202	1	0	0	0	0	0	0	0	1	9318	796	28	2		2	MARVELD2	5	68728873	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	16631986	68728873	112186387	54	11752											
PCYOX1L	78991	genome.wustl.edu	37	5	148748176	148748176	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:148748176G>T	ENST00000274569.4	+	6	1506	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.D392Y	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	482					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACAAGATTGATCAAAAAGA	0.552																																					Ovarian(62;1136 1477 27277 27495)											0			5											100	101	101					5																	148748176		2203	4300	6503	148728369	SO:0001583	missense	78991				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1444G>T	5.37:g.148748176G>T	ENSP00000274569:p.Asp482Tyr		148728369	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459010	0.84317	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.27720	1.65;1.65	5.51	5.51	0.81932	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.63756	-0.6565	10	0.87932	D	0	-42.2597	19.427	0.94746	0.0:0.0:1.0:0.0	.	364;392;482	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	Y	482;392	ENSP00000274569:D482Y;ENSP00000428512:D392Y	ENSP00000274569:D482Y	D	+	1	0	PCYOX1L	148728369	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.835000	0.99442	2.577000	0.86979	0.561000	0.74099	GAT		0.552	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		T	148748176	G	T	148748176	3	4	202	1	0	0	0	0	1	0	0	0	11609	1290	45	3	1466	3	PCYOX1L	5	148748176	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	80019303	148748176	32167084	55	11753											
PDLIM7	9260	genome.wustl.edu	37	5	176916810	176916810	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:176916810G>C	ENST00000355841.2	-	8	662	c.596C>G	c.(595-597)cCa>cGa	p.P199R	PDLIM7_ENST00000359895.2_Missense_Mutation_p.P165R|PDLIM7_ENST00000393551.1_Intron|PDLIM7_ENST00000356618.4_Intron	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	199					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			GGCTGGGGCTGGGGCTTCTGT	0.677																																																0			5											37	32	34					5																	176916810		2197	4296	6493	176849416	SO:0001583	missense	9260			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.596C>G	5.37:g.176916810G>C	ENSP00000348099:p.Pro199Arg		176849416	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	ENST00000355841.2	37	CCDS4422.1	.	.	.	.	.	.	.	.	.	.	g	15.04	2.715687	0.48622	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	T;T	0.52754	0.72;0.65	5.04	5.04	0.67666	.	0.293949	0.27084	N	0.021013	T	0.44286	0.1286	L	0.55481	1.735	0.80722	D	1	B;B	0.30973	0.003;0.302	B;B	0.28139	0.002;0.086	T	0.38520	-0.9657	10	0.36615	T	0.2	.	15.577	0.76400	0.0:0.0:1.0:0.0	.	199;165	Q9NR12;Q9NR12-2	PDLI7_HUMAN;.	R	165;199	ENSP00000352964:P165R;ENSP00000348099:P199R	ENSP00000348099:P199R	P	-	2	0	PDLIM7	176849416	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.526000	0.60566	2.345000	0.79718	0.550000	0.68814	CCA		0.677	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		C	176916810	G	C	176916810	3	2	202	1	0	0	0	0	1	0	0	0	11684	1348	47	3	801	3	PDLIM7	5	176916810	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	28168634	176916810	3998450	56	11754											
RMND5B	64777	genome.wustl.edu	37	5	177571007	177571007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr5:177571007C>T	ENST00000515098.1	+	8	943	c.592C>T	c.(592-594)Cga>Tga	p.R198*	RMND5B_ENST00000313386.4_Nonsense_Mutation_p.R198*|RMND5B_ENST00000542098.1_Nonsense_Mutation_p.R185*			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	198	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGCTGCACCGACTGCACTT	0.627																																																0			5											65	70	68					5																	177571007		2203	4300	6503	177503613	SO:0001587	stop_gained	64777			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.592C>T	5.37:g.177571007C>T	ENSP00000420875:p.Arg198*		177503613	Q1HE27|Q6UVY7|Q9H6F6	Nonsense_Mutation	SNP	ENST00000515098.1	37	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	C	36	5.954282	0.97139	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-10.4243	9.5223	0.39143	0.2102:0.7898:0.0:0.0	.	.	.	.	X	198;198;185	.	ENSP00000320623:R198X	R	+	1	2	RMND5B	177503613	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.292000	0.51772	2.215000	0.71742	0.313000	0.20887	CGA		0.627	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		T	177571007	C	T	177571007	4	4	202	1	0	0	0	0	0	1	0	0	13401	644	23	1	610	1	RMND5B	5	177571007	Nonsense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	654197	177571007	3344253	57	11755											
IER3	8870	genome.wustl.edu	37	6	30712169	30712169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr6:30712169C>A	ENST00000259874.5	-	1	162	c.127G>T	c.(127-129)Gag>Tag	p.E43*	XXbac-BPG252P9.10_ENST00000607333.1_RNA|IER3_ENST00000376377.2_Nonsense_Mutation_p.E43*|FLOT1_ENST00000456573.2_5'Flank|FLOT1_ENST00000376389.3_5'Flank|FLOT1_ENST00000470643.1_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	43					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						GCTGCGGGCTCCGGGAGAGGG	0.721																																																0			6											6	9	8					6																	30712169		1213	2416	3629	30820148	SO:0001587	stop_gained	8870			AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.127G>T	6.37:g.30712169C>A	ENSP00000259874:p.Glu43*		30820148	Q5SU30|Q92691|Q93044	Nonsense_Mutation	SNP	ENST00000259874.5	37	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	C	37	6.115470	0.97296	.	.	ENSG00000137331	ENST00000259874;ENST00000376377;ENST00000376382	.	.	.	5.04	5.04	0.67666	.	0.070048	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.9745	0.64262	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000259874:E43X	E	-	1	0	IER3	30820148	0.997000	0.39634	0.972000	0.41901	0.887000	0.51463	3.718000	0.54919	2.354000	0.79902	0.549000	0.68633	GAG		0.721	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			A	30712169	C	A	30712169	4	1	202	1	0	0	0	0	0	1	0	0	7506	864	30	3	351	3	IER3	6	30712169	Nonsense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09		30712169	140402898	58	11756											
SLC22A7	10864	genome.wustl.edu	37	6	43270123	43270123	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr6:43270123C>G	ENST00000372585.5	+	8	1342	c.1247C>G	c.(1246-1248)gCg>gGg	p.A416G	SLC22A7_ENST00000372574.3_Missense_Mutation_p.A414G|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A414G	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	416					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A416V(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACGGCCCTGGCGTTCGGCACT	0.672																																																1	Substitution - Missense(1)	endometrium(1)	6											41	35	37					6																	43270123		2202	4300	6502	43378101	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1247C>G	6.37:g.43270123C>G	ENSP00000361666:p.Ala416Gly		43378101	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227390	0.39399	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.75367	0.43;0.43;0.43;-0.93	5.27	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.595751	0.17522	N	0.171230	T	0.59074	0.2167	L	0.49256	1.55	0.19300	N	0.999978	B;B;B	0.23540	0.087;0.071;0.071	B;B;B	0.34093	0.175;0.109;0.109	T	0.58736	-0.7584	10	0.87932	D	0	.	11.0316	0.47776	0.0:0.812:0.188:0.0	.	416;414;414	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	G	414;416;414;109	ENSP00000361670:A414G;ENSP00000361666:A416G;ENSP00000361655:A414G;ENSP00000393836:A109G	ENSP00000361655:A414G	A	+	2	0	SLC22A7	43378101	0.006000	0.16342	0.024000	0.17045	0.121000	0.20230	1.858000	0.39408	2.468000	0.83385	0.462000	0.41574	GCG		0.672	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			G	43270123	C	G	43270123	3	3	202	1	0	0	0	0	1	0	0	0	14462	768	27	3	1273	3	SLC22A7	6	43270123	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	12557954	43270123	127844944	59	11757											
KCNQ5	56479	genome.wustl.edu	37	6	73787100	73787100	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr6:73787100T>A	ENST00000370398.1	+	4	781	c.672T>A	c.(670-672)aaT>aaA	p.N224K	KCNQ5_ENST00000355194.4_Missense_Mutation_p.N224K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.N224K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.N224K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.N224K|KCNQ5_ENST00000342056.2_Missense_Mutation_p.N224K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.N224K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.N224K	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	224					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTCAGGGTAATATTTTTGCCA	0.468																																					GBM(142;1375 1859 14391 23261 44706)											0			6											106	98	101					6																	73787100		2203	4300	6503	73843821	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.672T>A	6.37:g.73787100T>A	ENSP00000359425:p.Asn224Lys		73843821	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189650	0.78789	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.95	-3.49	0.04724	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	M	0.70595	2.14	0.38526	D	0.948842	P;D;P;P;D;P	0.71674	0.866;0.995;0.954;0.944;0.998;0.84	P;D;D;P;D;D	0.74348	0.675;0.958;0.921;0.661;0.983;0.91	D	0.97235	0.9887	10	0.72032	D	0.01	.	14.0841	0.64944	0.0:0.5956:0.0:0.4044	.	224;224;224;224;224;224	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	K	224	ENSP00000345055:N224K;ENSP00000347326:N224K;ENSP00000359425:N224K;ENSP00000359419:N224K;ENSP00000385501:N224K;ENSP00000347853:N224K;ENSP00000384453:N224K;ENSP00000409861:N224K	ENSP00000345055:N224K	N	+	3	2	KCNQ5	73843821	0.999000	0.42202	0.992000	0.48379	0.984000	0.73092	0.733000	0.26087	-0.342000	0.08363	-0.263000	0.10527	AAT		0.468	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		A	73787100	T	A	73787100	3	1	202	1	0	0	0	0	1	0	0	0	8086	1403	49	5	686	5	KCNQ5	6	73787100	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	30516977	73787100	97327967	60	11758											
DOPEY1	23033	genome.wustl.edu	37	6	83848674	83848674	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr6:83848674G>A	ENST00000349129.2	+	21	5173	c.4913G>A	c.(4912-4914)gGc>gAc	p.G1638D	DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1619D|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1629D	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1638					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATGTCAAGGCATGTTCCTC	0.433																																																0			6											127	101	110					6																	83848674		2203	4299	6502	83905393	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4913G>A	6.37:g.83848674G>A	ENSP00000195654:p.Gly1638Asp		83905393	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911340	0.72983	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.46451	0.87;0.87	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.55872	-0.8072	10	0.54805	T	0.06	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1529;1629;1638	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	D	1638;1619;1619	ENSP00000195654:G1638D;ENSP00000237163:G1619D	ENSP00000237163:G1619D	G	+	2	0	DOPEY1	83905393	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	GGC		0.433	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		A	83848674	G	A	83848674	3	1	202	1	0	0	0	0	1	0	0	0	4707	1203	42	2	4987	2	DOPEY1	6	83848674	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	10061574	83848674	87266393	61	11759											
TAAR1	134864	genome.wustl.edu	37	6	132966668	132966668	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr6:132966668T>C	ENST00000275216.1	-	1	474	c.475A>G	c.(475-477)Atc>Gtc	p.I159V		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	159					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.I159L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TCCAGAAAGATCATTCCAAAT	0.393																																																1	Substitution - Missense(1)	lung(1)	6											63	65	65					6																	132966668		2203	4299	6502	133008361	SO:0001583	missense	134864			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"GPCR / Class A : Trace amine associated receptors"	17734	protein-coding gene	gene with protein product		609333	"trace amine receptor 1"	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.475A>G	6.37:g.132966668T>C	ENSP00000275216:p.Ile159Val		133008361	Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	T	1.195	-0.634168	0.03584	.	.	ENSG00000146399	ENST00000275216	T	0.37235	1.21	5.93	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.172233	0.49916	D	0.000137	T	0.06917	0.0176	L	0.28014	0.82	0.31030	N	0.717489	P	0.40302	0.712	B	0.37508	0.252	T	0.16748	-1.0392	10	0.02654	T	1	-17.2472	8.1935	0.31383	0.0:0.2127:0.0:0.7873	.	159	Q96RJ0	TAAR1_HUMAN	V	159	ENSP00000275216:I159V	ENSP00000275216:I159V	I	-	1	0	TAAR1	133008361	0.995000	0.38212	1.000000	0.80357	0.866000	0.49608	0.518000	0.22847	1.066000	0.40716	0.454000	0.30748	ATC		0.393	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		C	132966668	T	C	132966668	3	2	202	1	0	0	0	0	1	0	0	0	15489	1435	50	4	548	4	TAAR1	6	132966668	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	49117994	132966668	38148399	62	11760											
PERP	64065	genome.wustl.edu	37	6	138428387	138428387	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr6:138428387C>T	ENST00000421351.3	-	1	261	c.91G>A	c.(91-93)Gcc>Acc	p.A31T		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	31					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CCGCGGCCGGCCAGCGCGATG	0.692																																																0			6											30	37	35					6																	138428387		2146	4199	6345	138470080	SO:0001583	missense	64065			AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"keratinocyte associated protein 1"	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.91G>A	6.37:g.138428387C>T	ENSP00000397157:p.Ala31Thr		138470080	B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	ENST00000421351.3	37	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.281022	0.40394	.	.	ENSG00000112378	ENST00000421351	D	0.89050	-2.46	4.29	-4.67	0.03319	.	0.340480	0.29995	N	0.010679	T	0.69620	0.3131	L	0.52573	1.65	0.50632	D	0.99988	B	0.06786	0.001	B	0.12837	0.008	T	0.52117	-0.8618	10	0.49607	T	0.09	-10.0537	4.6517	0.12598	0.4619:0.2966:0.0:0.2415	.	31	Q96FX8	PERP_HUMAN	T	31	ENSP00000397157:A31T	ENSP00000397157:A31T	A	-	1	0	PERP	138470080	0.358000	0.24947	0.974000	0.42286	0.469000	0.32828	-0.788000	0.04614	-0.532000	0.06332	-0.265000	0.10407	GCC		0.692	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121		T	138428387	C	T	138428387	3	4	202	1	0	0	0	0	1	0	0	0	11732	739	26	2	502	2	PERP	6	138428387	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	5461719	138428387	32686680	63	11761											
ABCB4	5244	genome.wustl.edu	37	7	87032453	87032453	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr7:87032453T>C	ENST00000265723.4	-	27	3763	c.3652A>G	c.(3652-3654)Aag>Gag	p.K1218E	ABCB4_ENST00000453593.1_Missense_Mutation_p.K1164E|ABCB4_ENST00000358400.3_Missense_Mutation_p.K1164E|ABCB4_ENST00000545634.1_Missense_Mutation_p.K1211E|ABCB4_ENST00000359206.3_Missense_Mutation_p.K1211E	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1218	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACACACACCTTTTCACTTTCA	0.423																																																0			7											145	131	136					7																	87032453		2203	4300	6503	86870389	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3652A>G	7.37:g.87032453T>C	ENSP00000265723:p.Lys1218Glu		86870389	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.516573|4.516573	0.85495|0.85495	.|.	.|.	ENSG00000005471|ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634|ENST00000440025	D;D;D;D;D|.	0.84223|.	-1.82;-1.82;-1.82;-1.82;-1.82|.	5.41|5.41	5.41|5.41	0.78517|0.78517	ATPase, AAA+ type, core (1);ABC transporter-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.45657|0.45657	0.1353|0.1353	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	P;D;D|.	0.63880|.	0.939;0.993;0.987|.	P;D;P|.	0.64506|.	0.547;0.926;0.844|.	T|T	0.43147|0.43147	-0.9409|-0.9409	10|6	0.87932|.	D|.	0|.	-18.0289|-18.0289	15.7384|15.7384	0.77866|0.77866	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1164;1211;1218|.	A4D1D5;P21439-2;P21439|.	.;.;MDR3_HUMAN|.	E|R	1211;1164;1218;1164;1211|22	ENSP00000352135:K1211E;ENSP00000351172:K1164E;ENSP00000265723:K1218E;ENSP00000392983:K1164E;ENSP00000437465:K1211E|.	ENSP00000265723:K1218E|.	K|K	-|-	1|2	0|0	ABCB4|ABCB4	86870389|86870389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	6.199000|6.199000	0.72112|0.72112	2.174000|2.174000	0.68829|0.68829	0.459000|0.459000	0.35465|0.35465	AAG|AAA		0.423	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		C	87032453	T	C	87032453	3	2	202	1	0	0	0	0	1	0	0	0	43	1850	64	4	216	4	ABCB4	7	87032453	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09		87032453	72106210	64	11762											
MEPCE	56257	genome.wustl.edu	37	7	100028200	100028200	+	Silent	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr7:100028200C>T	ENST00000310512.2	+	1	947	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_Intron|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	187					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACTTCCTCCTGGGGGGCAA	0.577																																																0			7											62	63	63					7																	100028200		2203	4299	6502	99866136	SO:0001819	synonymous_variant	56257			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.559C>T	7.37:g.100028200C>T			99866136	B3KP86|D6W5V7|Q9NPD4	Silent	SNP	ENST00000310512.2	37	CCDS5693.1																																																																																				0.577	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			T	100028200	C	T	100028200	2	4	202	1	0	0	0	0	0	0	0	1	9477	680	24	2		2	MEPCE	7	100028200	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	12995747	100028200	59110463	65	11763											
LAMB1	3912	genome.wustl.edu	37	7	107638875	107638875	+	Silent	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr7:107638875G>A	ENST00000222399.6	-	4	506	c.276C>T	c.(274-276)gaC>gaT	p.D92D	U3_ENST00000458938.1_RNA|LAMB1_ENST00000393561.1_Silent_p.D116D|LAMB1_ENST00000393560.1_Silent_p.D92D	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	92	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGAGATGGCTGTCAGGATTCA	0.413																																																0			7											162	138	146					7																	107638875		2203	4300	6503	107426111	SO:0001819	synonymous_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.276C>T	7.37:g.107638875G>A			107426111	Q14D91	Silent	SNP	ENST00000222399.6	37	CCDS5750.1																																																																																				0.413	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107638875	G	A	107638875	2	1	202	1	0	0	0	0	0	0	0	1	8610	1368	48	2		2	LAMB1	7	107638875	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09	7610675	107638875	51499788	66	11764											
WDR37	22884	genome.wustl.edu	37	10	1170258	1170258	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr10:1170258A>G	ENST00000358220.1	+	12	1348	c.1204A>G	c.(1204-1206)Att>Gtt	p.I402V	WDR37_ENST00000482165.1_3'UTR|WDR37_ENST00000263150.4_Missense_Mutation_p.I402V			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	402										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GAGATCCCCCATTGCAACTAT	0.458																																																0			10											136	122	127					10																	1170258		2203	4300	6503	1160258	SO:0001583	missense	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1204A>G	10.37:g.1170258A>G	ENSP00000350954:p.Ile402Val		1160258	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926673	0.52759	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01287	5.05;5.05	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.01254	0.0041	N	0.12961	0.28	0.80722	D	1	B;B	0.31485	0.075;0.325	B;B	0.25405	0.028;0.06	T	0.72714	-0.4210	10	0.25751	T	0.34	.	15.8515	0.78934	1.0:0.0:0.0:0.0	.	403;402	A8K976;Q9Y2I8	.;WDR37_HUMAN	V	402	ENSP00000350954:I402V;ENSP00000263150:I402V	ENSP00000263150:I402V	I	+	1	0	WDR37	1160258	1.000000	0.71417	0.931000	0.37212	0.809000	0.45718	9.154000	0.94694	2.152000	0.67230	0.482000	0.46254	ATT		0.458	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		G	1170258	A	G	1170258	3	3	202	1	0	0	0	0	1	0	0	0	17291	217	8	4	1246	4	WDR37	10	1170258	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09		1170258	134364489	67	11765											
VIM	7431	genome.wustl.edu	37	10	17276768	17276768	+	Missense_Mutation	SNP	G	G	A	rs371431143		TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr10:17276768G>A	ENST00000224237.5	+	5	1104	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	VIM_ENST00000544301.1_Missense_Mutation_p.R320Q|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	320	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTGAGTACCGGAGACAGGTG	0.522																																																0			10						G	GLN/ARG	0,4406		0,0,2203	87	80	82		959	5.1	1	10		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	VIM	NM_003380.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	320/467	17276768	1,13005	2203	4300	6503	17316774	SO:0001583	missense	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.959G>A	10.37:g.17276768G>A	ENSP00000224237:p.Arg320Gln		17316774	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	36	5.867489	0.97043	0.0	1.16E-4	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.91740	-2.9;-2.9;-2.9	6.05	5.12	0.69794	Filament (1);	0.000000	0.44097	D	0.000499	D	0.96592	0.8888	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;1.0;0.998	P;D;D;D	0.81914	0.733;0.991;0.995;0.949	D	0.96645	0.9477	10	0.62326	D	0.03	.	17.4719	0.87648	0.0:0.1236:0.8764:0.0	.	307;307;320;320	F5H288;B3KRK8;B0YJC4;P08670	.;.;.;VIME_HUMAN	Q	320;320;307;146	ENSP00000446007:R320Q;ENSP00000224237:R320Q;ENSP00000391842:R146Q	ENSP00000224237:R320Q	R	+	2	0	VIM	17316774	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.859000	0.99545	2.881000	0.98747	0.637000	0.83480	CGG		0.522	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		A	17276768	G	A	17276768	3	1	202	1	0	0	0	0	1	0	0	0	17166	1116	39	1	977	1	VIM	10	17276768	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	16106510	17276768	118257979	68	11766											
OIT3	170392	genome.wustl.edu	37	10	74683987	74683987	+	Splice_Site	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr10:74683987G>A	ENST00000334011.5	+	7	1170	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	318	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CCTGGCTCAGGTGGTGAATGA	0.517																																					Colon(7;19 345 13446 17537)											0			10											73	75	74					10																	74683987		2203	4300	6503	74353993	SO:0001630	splice_region_variant	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.952-1G>A	10.37:g.74683987G>A			74353993	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054902	0.75960	.	.	ENSG00000138315	ENST00000334011	D	0.82344	-1.6	5.72	5.72	0.89469	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.51477	D	0.000082	D	0.89399	0.6704	M	0.70275	2.135	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	D	0.88838	0.3310	9	.	.	.	-19.6253	14.0832	0.64939	0.0717:0.0:0.9283:0.0	.	318	Q8WWZ8	OIT3_HUMAN	M	318	ENSP00000333900:V318M	.	V	+	1	0	OIT3	74353993	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.494000	0.73661	2.695000	0.91970	0.655000	0.94253	GTG		0.517	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	Missense_Mutation	A	74683987	G	A	74683987	5	1	202	1	0	0	0	0	0	0	1	0	10849	1275	44	2	978	2	OIT3	10	74683987	Splice_Site	SNP	G	TCGA-23-2649-01A-01D-1526-09	57407219	74683987	60850760	69	11767											
CNNM2	54805	genome.wustl.edu	37	10	104678273	104678273	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr10:104678273G>C	ENST00000369878.4	+	1	224	c.36G>C	c.(34-36)aaG>aaC	p.K12N	CNNM2_ENST00000369875.3_Missense_Mutation_p.K12N|CNNM2_ENST00000433628.2_Missense_Mutation_p.K12N	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	12					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAAAGTAAAGATGGCGGGCG	0.701																																																0			10											10	12	11					10																	104678273		2160	4237	6397	104668263	SO:0001583	missense	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.36G>C	10.37:g.104678273G>C	ENSP00000358894:p.Lys12Asn		104668263	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712830	0.48517	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.75154	-0.73;-0.91;-0.73	4.88	3.97	0.46021	.	1.399140	0.04725	N	0.420097	T	0.68522	0.3010	N	0.14661	0.345	0.34688	D	0.725421	B;B;P	0.48016	0.275;0.18;0.904	B;B;P	0.45099	0.112;0.052;0.469	T	0.64871	-0.6305	10	0.87932	D	0	.	14.3096	0.66407	0.0:0.1497:0.8503:0.0	.	12;12;12	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	N	12	ENSP00000392875:K12N;ENSP00000358891:K12N;ENSP00000358894:K12N	ENSP00000286899:K12N	K	+	3	2	CNNM2	104668263	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.258000	0.32944	1.275000	0.44379	0.555000	0.69702	AAG		0.701	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		C	104678273	G	C	104678273	3	2	202	1	0	0	0	0	1	0	0	0	3613	933	33	3	38	3	CNNM2	10	104678273	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	29994286	104678273	30856474	70	11768											
SH3PXD2A	9644	genome.wustl.edu	37	10	105361944	105361944	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr10:105361944C>G	ENST00000369774.4	-	15	3307	c.3031G>C	c.(3031-3033)Ggc>Cgc	p.G1011R	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.G878R|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.G983R|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.G846R			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1011					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGTCGGACGCCTCGGAGGCCA	0.672																																																0			10											44	49	47					10																	105361944		2203	4300	6503	105351934	SO:0001583	missense	9644			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3031G>C	10.37:g.105361944C>G	ENSP00000358789:p.Gly1011Arg		105351934	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.481|9.481	1.098162|1.098162	0.20552|0.20552	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|T	0.58797|0.58358	0.38;0.38;0.53;0.31|0.34	5.27|5.27	4.37|4.37	0.52481|0.52481	.|.	0.500214|.	0.23045|.	N|.	0.052580|.	T|T	0.42675|0.42675	0.1213|0.1213	L|L	0.34521|0.34521	1.04|1.04	0.26374|0.26374	N|N	0.976842|0.976842	B;B;P;B|.	0.43826|.	0.257;0.257;0.818;0.145|.	B;B;B;B|.	0.36186|.	0.143;0.091;0.219;0.133|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|7	0.16896|0.14252	T|T	0.51|0.57	-5.4347|-5.4347	10.5962|10.5962	0.45338|0.45338	0.0:0.8333:0.0:0.1667|0.0:0.8333:0.0:0.1667	.|.	1011;860;856;983|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	R|T	1011;983;818;878;846|937	ENSP00000358789:G1011R;ENSP00000348215:G983R;ENSP00000443663:G878R;ENSP00000441514:G846R|ENSP00000395781:R937T	ENSP00000318135:G818R|ENSP00000395781:R937T	G|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105351934|105351934	0.002000|0.002000	0.14202|0.14202	0.131000|0.131000	0.22000|0.22000	0.533000|0.533000	0.34776|0.34776	0.673000|0.673000	0.25203|0.25203	1.228000|1.228000	0.43614|0.43614	0.561000|0.561000	0.74099|0.74099	GGC|AGG		0.672	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		G	105361944	C	G	105361944	3	3	202	1	0	0	0	0	1	0	0	0	14259	681	24	3	374	3	SH3PXD2A	10	105361944	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	683671	105361944	30172803	71	11769											
MRVI1	10335	genome.wustl.edu	37	11	10615085	10615085	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr11:10615085G>C	ENST00000436272.1	-	16	2126	c.2048C>G	c.(2047-2049)cCt>cGt	p.P683R	MRVI1_ENST00000423302.2_Missense_Mutation_p.P710R|MRVI1_ENST00000552103.1_Missense_Mutation_p.P619R|MRVI1_ENST00000558540.1_Missense_Mutation_p.P395R|MRVI1_ENST00000534266.2_Missense_Mutation_p.P395R|MRVI1_ENST00000545852.1_Missense_Mutation_p.P395R|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000424001.1_Missense_Mutation_p.P395R|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000547195.1_Missense_Mutation_p.P619R|MRVI1_ENST00000421747.1_Missense_Mutation_p.P701R|MRVI1_ENST00000531107.1_Missense_Mutation_p.P702R|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.P504R|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000527509.2_Missense_Mutation_p.P619R			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	683					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGTTTGGCCAGGCAGATTCAG	0.512																																																0			11											110	112	112					11																	10615085		2201	4294	6495	10571661	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2048C>G	11.37:g.10615085G>C	ENSP00000412229:p.Pro683Arg		10571661	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	G	28.3	4.911985	0.92178	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26223	2.89;2.89;2.31;2.31;1.75;1.75;2.71;2.37;2.89;2.31	5.74	5.74	0.90152	.	0.185232	0.48286	D	0.000194	T	0.46073	0.1374	L	0.56769	1.78	0.80722	D	1	D;P;P;P	0.63880	0.993;0.782;0.782;0.741	P;P;P;P	0.58454	0.839;0.607;0.607;0.472	T	0.25363	-1.0134	10	0.54805	T	0.06	-5.8269	19.9357	0.97140	0.0:0.0:1.0:0.0	.	504;683;702;701	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	R	701;684;683;619;619;395;395;710;504;702;619	ENSP00000414598:P701R;ENSP00000412229:P683R;ENSP00000448278:P619R;ENSP00000446764:P619R;ENSP00000441971:P395R;ENSP00000401205:P395R;ENSP00000412130:P710R;ENSP00000437784:P504R;ENSP00000432436:P702R;ENSP00000432067:P619R	ENSP00000307885:P684R	P	-	2	0	MRVI1	10571661	1.000000	0.71417	0.544000	0.28141	0.939000	0.58152	7.091000	0.76923	2.715000	0.92844	0.655000	0.94253	CCT		0.512	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		C	10615085	G	C	10615085	3	2	202	1	0	0	0	0	1	0	0	0	9853	1000	35	3	629	3	MRVI1	11	10615085	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09		10615085	124391431	72	11770											
LRP4	4038	genome.wustl.edu	37	11	46893150	46893150	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr11:46893150C>A	ENST00000378623.1	-	31	4860	c.4618G>T	c.(4618-4620)Gag>Tag	p.E1540*	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1540					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCAGCACTCTCGATCCGGTCC	0.562																																																0			11											108	90	96					11																	46893150		2201	4299	6500	46849726	SO:0001587	stop_gained	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4618G>T	11.37:g.46893150C>A	ENSP00000367888:p.Glu1540*		46849726	B2RN39|Q4AC85|Q5KTZ5	Nonsense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	45	12.064099	0.99632	.	.	ENSG00000134569	ENST00000378623	.	.	.	5.81	5.81	0.92471	.	0.116771	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	.	.	.	X	1540	.	ENSP00000367888:E1540X	E	-	1	0	LRP4	46849726	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.759000	0.68785	2.736000	0.93811	0.655000	0.94253	GAG		0.562	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46893150	C	A	46893150	4	1	202	1	0	0	0	0	0	1	0	0	8959	893	31	3	1131	3	LRP4	11	46893150	Nonsense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	36278065	46893150	88113366	73	11771											
OR5AR1	219493	genome.wustl.edu	37	11	56431795	56431795	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr11:56431795C>G	ENST00000302969.2	+	1	658	c.634C>G	c.(634-636)Ctc>Gtc	p.L212V		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CAGCACCATCCTCATCATCTT	0.493																																																0			11											180	152	162					11																	56431795		2201	4296	6497	56188371	SO:0001583	missense	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.634C>G	11.37:g.56431795C>G	ENSP00000302639:p.Leu212Val		56188371	Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525069	0.27299	.	.	ENSG00000172459	ENST00000302969	T	0.38722	1.12	4.91	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	D	0.000633	T	0.33876	0.0878	L	0.41079	1.255	0.30730	N	0.747303	P	0.42908	0.793	B	0.41332	0.354	T	0.34675	-0.9819	10	0.40728	T	0.16	.	9.7922	0.40713	0.0:0.7807:0.1404:0.0789	.	212	Q8NGP9	O5AR1_HUMAN	V	212	ENSP00000302639:L212V	ENSP00000302639:L212V	L	+	1	0	OR5AR1	56188371	0.000000	0.05858	0.998000	0.56505	0.958000	0.62258	-0.531000	0.06171	1.305000	0.44909	0.573000	0.79308	CTC		0.493	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		G	56431795	C	G	56431795	3	3	202	1	0	0	0	0	1	0	0	0	11145	681	24	3	636	3	OR5AR1	11	56431795	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	9538645	56431795	78574721	74	11772											
P2RX3	5024	genome.wustl.edu	37	11	57135539	57135539	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr11:57135539C>A	ENST00000263314.2	+	9	933	c.899C>A	c.(898-900)gCt>gAt	p.A300D		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	300					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CTCCTGAAGGCTTTTGGCATC	0.577																																																0			11											96	90	92					11																	57135539		2201	4296	6497	56892115	SO:0001583	missense	5024			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.899C>A	11.37:g.57135539C>A	ENSP00000263314:p.Ala300Asp		56892115	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717721	0.89205	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.05996	3.36	6.08	5.14	0.70334	.	0.106801	0.64402	D	0.000005	T	0.31796	0.0808	M	0.90483	3.12	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	T	0.31806	-0.9930	10	0.87932	D	0	-17.8196	14.448	0.67364	0.0:0.8527:0.1473:0.0	.	300	P56373	P2RX3_HUMAN	D	300	ENSP00000263314:A300D	ENSP00000263314:A300D	A	+	2	0	P2RX3	56892115	1.000000	0.71417	0.928000	0.36995	0.988000	0.76386	4.607000	0.61133	1.525000	0.49052	0.655000	0.94253	GCT		0.577	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		A	57135539	C	A	57135539	3	1	202	1	0	0	0	0	1	0	0	0	11341	797	28	3	933	3	P2RX3	11	57135539	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	703744	57135539	77870977	75	11773											
SYTL2	54843	genome.wustl.edu	37	11	85445291	85445291	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr11:85445291C>G	ENST00000528231.1	-	6	1355	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q	SYTL2_ENST00000389960.4_Missense_Mutation_p.E360Q|SYTL2_ENST00000524452.1_Missense_Mutation_p.E360Q|SYTL2_ENST00000527523.1_Missense_Mutation_p.E312Q|SYTL2_ENST00000316356.4_Missense_Mutation_p.E361Q	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	360					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.E361K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTGTCAGATTCTAAAACACTA	0.443																																																1	Substitution - Missense(1)	skin(1)	11											113	109	111					11																	85445291		2203	4299	6502	85122939	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1078G>C	11.37:g.85445291C>G	ENSP00000431701:p.Glu360Gln		85122939	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416967	0.83449	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.29655	1.65;1.68;1.67;1.56;1.65	6.17	5.26	0.73747	.	.	.	.	.	T	0.51669	0.1688	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.969;0.999;0.997	D;D;P;D;D	0.68353	0.933;0.945;0.663;0.957;0.945	T	0.50625	-0.8806	8	.	.	.	.	15.4581	0.75330	0.0:0.9332:0.0:0.0668	.	312;360;360;361;218	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	Q	360;361;360;312;360	ENSP00000374610:E360Q;ENSP00000318803:E361Q;ENSP00000431701:E360Q;ENSP00000434010:E312Q;ENSP00000435238:E360Q	.	E	-	1	0	SYTL2	85122939	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.706000	0.47135	1.626000	0.50381	0.655000	0.94253	GAA		0.443	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		G	85445291	C	G	85445291	3	3	202	1	0	0	0	0	1	0	0	0	15483	922	32	3	4259	3	SYTL2	11	85445291	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	28309752	85445291	49561225	76	11774											
PICALM	8301	genome.wustl.edu	37	11	85779710	85779710	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr11:85779710T>C	ENST00000393346.3	-	1	261	c.113A>G	c.(112-114)aAg>aGg	p.K38R	PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000532317.1_Missense_Mutation_p.K38R|PICALM_ENST00000526033.1_Missense_Mutation_p.K38R|PICALM_ENST00000356360.5_Missense_Mutation_p.K38R|PICALM_ENST00000528398.1_Intron			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	38	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GTGCTTTTTCTTGGGCCCCAT	0.647			T	"MLLT10, MLL"	"TALL, AML, "																																		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0			11											96	85	89					11																	85779710		2203	4299	6502	85457358	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.113A>G	11.37:g.85779710T>C	ENSP00000377015:p.Lys38Arg		85457358	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224858	0.79576	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000356360;ENST00000531930;ENST00000528256	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	4.73	3.61	0.41365	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.126853	0.52532	D	0.000080	T	0.54711	0.1875	M	0.92026	3.265	0.80722	D	1	P;P;P	0.52316	0.952;0.934;0.556	P;P;B	0.55999	0.789;0.775;0.406	T	0.62732	-0.6792	9	.	.	.	-10.031	10.4785	0.44678	0.0:0.0771:0.0:0.9229	.	38;38;38	F8VPG7;Q13492;Q13492-3	.;PICAL_HUMAN;.	R	38;38;38;38;38;4;4	ENSP00000436958:K38R;ENSP00000433846:K38R;ENSP00000377015:K38R;ENSP00000348718:K38R;ENSP00000433303:K4R;ENSP00000431545:K4R	.	K	-	2	0	PICALM	85457358	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.319000	0.79040	0.955000	0.37878	-0.371000	0.07208	AAG		0.647	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		C	85779710	T	C	85779710	3	2	202	1	0	0	0	0	1	0	0	0	11880	1609	56	4	1953	4	PICALM	11	85779710	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	334419	85779710	49226806	77	11775											
PHLDB1	23187	genome.wustl.edu	37	11	118486873	118486873	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr11:118486873A>C	ENST00000361417.2	+	5	713	c.302A>C	c.(301-303)aAt>aCt	p.N101T	PHLDB1_ENST00000356063.5_Missense_Mutation_p.N101T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	101	FHA.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCTGTGGCAATGCCTGCACT	0.612																																																0			11											109	103	105					11																	118486873		2200	4295	6495	117992083	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.302A>C	11.37:g.118486873A>C	ENSP00000354498:p.Asn101Thr		117992083	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003244	0.93287	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.57752	0.38;0.38	5.76	5.76	0.90799	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.098537	0.64402	D	0.000002	T	0.66327	0.2778	L	0.55017	1.72	0.80722	D	1	D;D;D	0.63880	0.978;0.991;0.993	P;D;D	0.74674	0.794;0.964;0.984	T	0.61554	-0.7039	10	0.23891	T	0.37	-21.5455	15.1972	0.73100	1.0:0.0:0.0:0.0	.	101;101;101	B4DIX4;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	T	101	ENSP00000354498:N101T;ENSP00000348359:N101T	ENSP00000348359:N101T	N	+	2	0	PHLDB1	117992083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.684000	0.91242	2.324000	0.78689	0.533000	0.62120	AAT		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		C	118486873	A	C	118486873	3	2	202	1	0	0	0	0	1	0	0	0	11851	101	4	5	312	5	PHLDB1	11	118486873	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	32707163	118486873	16519643	78	11776											
TMEM136	219902	genome.wustl.edu	37	11	120198146	120198146	+	Intron	SNP	A	A	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr11:120198146A>C	ENST00000375095.2	+	2	240				TMEM136_ENST00000314475.2_Missense_Mutation_p.H21P|TMEM136_ENST00000531346.1_Intron|TMEM136_ENST00000529187.1_Missense_Mutation_p.H21P	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136							integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		TCTTTTCATCACAGGATGGCA	0.428																																																0			11											166	154	158					11																	120198146		2203	4299	6502	119703356	SO:0001627	intron_variant	219902			BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.-1-4A>C	11.37:g.120198146A>C			119703356	B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	ENST00000375095.2	37	CCDS55793.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.745457	0.30955	.	.	ENSG00000181264	ENST00000314475;ENST00000529187	.	.	.	5.61	-8.75	0.00834	.	.	.	.	.	T	0.21103	0.0508	.	.	.	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16778	-1.0391	7	0.33141	T	0.24	.	6.2452	0.20813	0.2334:0.2576:0.4297:0.0793	.	21;21	Q6ZRR5-3;Q6ZRR5-4	.;.	P	21	.	ENSP00000312672:H21P	H	+	2	0	TMEM136	119703356	0.934000	0.31675	0.003000	0.11579	0.975000	0.68041	1.772000	0.38552	-1.866000	0.01145	-0.331000	0.08364	CAC		0.428	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		C	120198146	A	C	120198146	1	2	202	0	1	0	0	0	0	0	0	0	16052	159	6	5		5	TMEM136	11	120198146	Intron	SNP	A	TCGA-23-2649-01A-01D-1526-09	1711273	120198146	14808370	79	11777											
CNTN1	1272	genome.wustl.edu	37	12	41323797	41323797	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr12:41323797A>G	ENST00000551295.2	+	7	813	c.696A>G	c.(694-696)atA>atG	p.I232M	CNTN1_ENST00000347616.1_Missense_Mutation_p.I232M|CNTN1_ENST00000348761.2_Missense_Mutation_p.I221M|CNTN1_ENST00000360099.3_Missense_Mutation_p.I232M|CNTN1_ENST00000547702.1_Missense_Mutation_p.I232M|CNTN1_ENST00000547849.1_Missense_Mutation_p.I232M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	232					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCATTCCAATACCTGAACGTA	0.373																																																0			12											149	142	144					12																	41323797		2203	4299	6502	39610064	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.696A>G	12.37:g.41323797A>G	ENSP00000447006:p.Ile232Met		39610064	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908125	0.33721	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.66815	-0.23;0.17;-0.23;0.17;-0.23;0.16	5.39	-0.364	0.12553	Immunoglobulin subtype (1);	0.354955	0.30168	N	0.010260	T	0.55369	0.1916	L	0.57536	1.79	0.20563	N	0.999883	P;B;B	0.42993	0.797;0.208;0.132	B;B;B	0.41174	0.349;0.139;0.066	T	0.48647	-0.9017	10	0.38643	T	0.18	.	5.1999	0.15258	0.5674:0.0:0.1272:0.3054	.	232;221;232	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	M	232;232;232;232;232;221	ENSP00000448004:I232M;ENSP00000447006:I232M;ENSP00000448653:I232M;ENSP00000325660:I232M;ENSP00000353213:I232M;ENSP00000261160:I221M	ENSP00000325660:I232M	I	+	3	3	CNTN1	39610064	0.097000	0.21791	0.809000	0.32408	0.994000	0.84299	0.329000	0.19698	0.065000	0.16485	0.533000	0.62120	ATA		0.373	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		G	41323797	A	G	41323797	3	3	202	1	0	0	0	0	1	0	0	0	3640	381	14	4	718	4	CNTN1	12	41323797	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09		41323797	92528098	80	11778											
PRICKLE1	144165	genome.wustl.edu	37	12	42853781	42853781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr12:42853781C>A	ENST00000455697.1	-	8	2611	c.2326G>T	c.(2326-2328)Gga>Tga	p.G776*	PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.G776*|PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.G776*|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.G776*|PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.G776*	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	776					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGAAAATATCCTTCTTCTTCC	0.512																																																0			12											122	129	127					12																	42853781		2203	4300	6503	41140048	SO:0001587	stop_gained	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2326G>T	12.37:g.42853781C>A	ENSP00000401060:p.Gly776*		41140048	Q14C83|Q71QF8|Q96N00	Nonsense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	41	8.845733	0.98976	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.5429	19.6792	0.95956	0.0:1.0:0.0:0.0	.	.	.	.	X	776	.	ENSP00000345064:G776X	G	-	1	0	PRICKLE1	41140048	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.339000	0.79282	2.717000	0.92951	0.655000	0.94253	GGA		0.512	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			A	42853781	C	A	42853781	4	1	202	1	0	0	0	0	0	1	0	0	12489	690	24	3	173	3	PRICKLE1	12	42853781	Nonsense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	1529984	42853781	90998114	81	11779											
NUP107	57122	genome.wustl.edu	37	12	69135623	69135623	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr12:69135623C>G	ENST00000229179.4	+	27	2865	c.2533C>G	c.(2533-2535)Caa>Gaa	p.Q845E	NUP107_ENST00000539906.1_Missense_Mutation_p.Q816E|NUP107_ENST00000378905.2_Missense_Mutation_p.Q606E	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	845				Q -> R (in Ref. 4; AAH43343). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGAACACATCAAATGGTCTT	0.368																																																0			12											209	191	197					12																	69135623		2203	4300	6503	67421890	SO:0001583	missense	57122			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2533C>G	12.37:g.69135623C>G	ENSP00000229179:p.Gln845Glu		67421890	B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115116	0.56505	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.73319	2.225	0.33695	D	0.613782	P;B;P	0.48834	0.916;0.307;0.916	P;B;P	0.54460	0.753;0.163;0.645	T	0.77005	-0.2748	8	.	.	.	-10.778	19.7824	0.96422	0.0:1.0:0.0:0.0	.	816;606;845	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	E	845;606;816	.	.	Q	+	1	0	NUP107	67421890	1.000000	0.71417	0.718000	0.30602	0.004000	0.04260	6.768000	0.74980	2.770000	0.95276	0.655000	0.94253	CAA		0.368	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		G	69135623	C	G	69135623	3	3	202	1	0	0	0	0	1	0	0	0	10753	827	29	3	2639	3	NUP107	12	69135623	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	26281842	69135623	64716272	82	11780											
FLT1	2321	genome.wustl.edu	37	13	28913358	28913358	+	Missense_Mutation	SNP	C	C	T	rs374468544		TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr13:28913358C>T	ENST00000282397.4	-	17	2686	c.2435G>A	c.(2434-2436)cGg>cAg	p.R812Q	FLT1_ENST00000540678.1_Missense_Mutation_p.R30Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	812					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATAAGGGAGCCGCTCACACTG	0.408																																																0			13						C	GLN/ARG	0,4406		0,0,2203	83	82	83		2435	5.5	1	13		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLT1	NM_002019.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	812/1339	28913358	1,13005	2203	4300	6503	27811358	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2435G>A	13.37:g.28913358C>T	ENSP00000282397:p.Arg812Gln		27811358	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874572	0.72180	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.89123	-2.47;-2.47	5.52	5.52	0.82312	Protein kinase-like domain (1);	0.132945	0.45867	D	0.000340	D	0.91620	0.7352	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	P	0.61070	0.883	D	0.87242	0.2267	10	0.07813	T	0.8	.	19.7926	0.96466	0.0:1.0:0.0:0.0	.	812	P17948	VGFR1_HUMAN	Q	812;30	ENSP00000282397:R812Q;ENSP00000443311:R30Q	ENSP00000282397:R812Q	R	-	2	0	FLT1	27811358	0.735000	0.28153	0.998000	0.56505	0.980000	0.70556	3.313000	0.51935	2.761000	0.94854	0.655000	0.94253	CGG		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			T	28913358	C	T	28913358	3	4	202	1	0	0	0	0	1	0	0	0	5941	652	23	1	1637	1	FLT1	13	28913358	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09		28913358	86256520	83	11781											
SLC8A3	6547	genome.wustl.edu	37	14	70634682	70634682	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr14:70634682A>G	ENST00000381269.2	-	2	1211	c.458T>C	c.(457-459)aTt>aCt	p.I153T	SLC8A3_ENST00000357887.3_Missense_Mutation_p.I153T|SLC8A3_ENST00000534137.1_Missense_Mutation_p.I153T|SLC8A3_ENST00000356921.2_Missense_Mutation_p.I153T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.I153T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	153					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACACCTCAATTAAAGAGAG	0.493																																																0			14											91	85	87					14																	70634682		2203	4300	6503	69704435	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.458T>C	14.37:g.70634682A>G	ENSP00000370669:p.Ile153Thr		69704435	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962635	0.53400	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.48	5.48	0.80851	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.60160	0.984;0.987;0.987;0.987	D;D;D;D	0.68765	0.932;0.96;0.912;0.912	D	0.89481	0.3750	10	0.87932	D	0	.	15.5805	0.76432	1.0:0.0:0.0:0.0	.	153;153;153;153	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	T	153	ENSP00000349392:I153T;ENSP00000370669:I153T;ENSP00000350560:I153T;ENSP00000436688:I153T;ENSP00000433531:I153T	ENSP00000349392:I153T	I	-	2	0	SLC8A3	69704435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.332000	0.96446	2.081000	0.62600	0.528000	0.53228	ATT		0.493	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			G	70634682	A	G	70634682	3	3	202	1	0	0	0	0	1	0	0	0	14711	101	4	4	2464	4	SLC8A3	14	70634682	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09		70634682	36714858	84	11782											
TTLL5	23093	genome.wustl.edu	37	14	76232700	76232700	+	Silent	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr14:76232700T>C	ENST00000298832.9	+	20	2209	c.2004T>C	c.(2002-2004)aaT>aaC	p.N668N	TTLL5_ENST00000554510.1_Silent_p.N177N|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Silent_p.N219N|TTLL5_ENST00000557636.1_Silent_p.N682N	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	668					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCAAGATAATGGCAATCTTA	0.343																																																0			14											46	50	49					14																	76232700		2203	4300	6503	75302453	SO:0001819	synonymous_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2004T>C	14.37:g.76232700T>C			75302453	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	CCDS32124.1																																																																																				0.343	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		C	76232700	T	C	76232700	2	2	202	1	0	0	0	0	0	0	0	1	16730	1461	51	4		4	TTLL5	14	76232700	Silent	SNP	T	TCGA-23-2649-01A-01D-1526-09	5598018	76232700	31116840	85	11783											
TECPR2	9895	genome.wustl.edu	37	14	102901427	102901427	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr14:102901427A>G	ENST00000359520.7	+	9	2499	c.2273A>G	c.(2272-2274)tAt>tGt	p.Y758C	TECPR2_ENST00000558678.1_Missense_Mutation_p.Y758C	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	758					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GAGGACATCTATGCCCACGGG	0.612																																																0			14											65	63	64					14																	102901427		2203	4300	6503	101971180	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2273A>G	14.37:g.102901427A>G	ENSP00000352510:p.Tyr758Cys		101971180	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448106	0.84101	.	.	ENSG00000196663	ENST00000359520	T	0.29655	1.56	5.31	5.31	0.75309	.	0.208401	0.40469	N	0.001092	T	0.43255	0.1239	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.22906	-1.0203	9	.	.	.	.	15.3184	0.74102	1.0:0.0:0.0:0.0	.	758;758	A5PKY3;O15040	.;TCPR2_HUMAN	C	758	ENSP00000352510:Y758C	.	Y	+	2	0	TECPR2	101971180	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	7.808000	0.86044	2.026000	0.59711	0.454000	0.30748	TAT		0.612	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		G	102901427	A	G	102901427	3	3	202	1	0	0	0	0	1	0	0	0	15744	449	16	4	2303	4	TECPR2	14	102901427	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	26668727	102901427	4448113	86	11784											
TRAF3	7187	genome.wustl.edu	37	14	103336579	103336579	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr14:103336579A>C	ENST00000560371.1	+	2	258	c.41A>C	c.(40-42)cAg>cCg	p.Q14P	TRAF3_ENST00000392745.2_Missense_Mutation_p.Q14P|TRAF3_ENST00000539721.1_Missense_Mutation_p.Q14P|TRAF3_ENST00000347662.4_Missense_Mutation_p.Q14P|TRAF3_ENST00000351691.5_Missense_Mutation_p.Q14P	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	14					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GGCGCGCTGCAGACTAACCCG	0.502																																																0			14											60	60	60					14																	103336579		2203	4300	6503	102406332	SO:0001583	missense	7187			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.41A>C	14.37:g.103336579A>C	ENSP00000454207:p.Gln14Pro		102406332	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	A	9.094	1.002352	0.19121	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T;T	0.46063	2.23;2.21;2.21;0.88	5.2	4.05	0.47172	.	1.197230	0.06020	N	0.651164	T	0.33731	0.0873	N	0.24115	0.695	0.40904	D	0.984179	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.01604	-1.1314	10	0.32370	T	0.25	-18.7909	12.0919	0.53730	0.8488:0.1512:0.0:0.0	.	14;14;14	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	P	14	ENSP00000376500:Q14P;ENSP00000328003:Q14P;ENSP00000332468:Q14P;ENSP00000445998:Q14P	ENSP00000328003:Q14P	Q	+	2	0	TRAF3	102406332	0.996000	0.38824	0.485000	0.27403	0.038000	0.13279	2.674000	0.46867	0.827000	0.34685	0.533000	0.62120	CAG		0.502	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		C	103336579	A	C	103336579	3	2	202	1	0	0	0	0	1	0	0	0	16439	188	7	5	43	5	TRAF3	14	103336579	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	435152	103336579	4012961	87	11785											
MTA1	9112	genome.wustl.edu	37	14	105930753	105930753	+	Splice_Site	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr14:105930753C>T	ENST00000331320.7	+	14	1407	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	MTA1_ENST00000406191.1_Splice_Site_p.T398I|MTA1_ENST00000405646.1_Splice_Site_p.T381I|MTA1_ENST00000435036.2_5'UTR	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	398					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TTGTCCGTAGCCACACAGTCT	0.537																																																0			14											121	112	115					14																	105930753		2203	4300	6503	105001798	SO:0001630	splice_region_variant	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1193-1C>T	14.37:g.105930753C>T			105001798	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520698	0.64747	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050	D;D;D;D	0.99735	-6.58;-6.58;-6.58;-6.58	4.62	4.62	0.57501	Zinc finger, GATA-type (2);	0.096735	0.64402	D	0.000001	D	0.98905	0.9629	L	0.43152	1.355	0.80722	D	1	B;B	0.27166	0.17;0.078	B;B	0.37198	0.243;0.142	D	0.99978	1.2357	9	.	.	.	.	16.0373	0.80640	0.0:1.0:0.0:0.0	.	190;398	Q59FW1;Q13330	.;MTA1_HUMAN	I	307;398;398;381;190	ENSP00000333633:T398I;ENSP00000385702:T398I;ENSP00000384180:T381I;ENSP00000394106:T190I	.	T	+	2	0	MTA1	105001798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.937000	0.70162	2.125000	0.65367	0.462000	0.41574	ACC		0.537	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		Missense_Mutation	T	105930753	C	T	105930753	5	4	202	1	0	0	0	0	0	0	1	0	9908	753	26	2	1247	2	MTA1	14	105930753	Splice_Site	SNP	C	TCGA-23-2649-01A-01D-1526-09	2594174	105930753	1418787	88	11786											
ADAMTS7	11173	genome.wustl.edu	37	15	79058799	79058799	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr15:79058799G>T	ENST00000388820.4	-	19	3664	c.3454C>A	c.(3454-3456)Cct>Act	p.P1152T	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1152					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TTGATCAAAGGGTTCCCAGGG	0.657																																																0			15											4	6	5					15																	79058799		1831	3770	5601	76845854	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3454C>A	15.37:g.79058799G>T	ENSP00000373472:p.Pro1152Thr		76845854	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	6.952	0.545477	0.13312	.	.	ENSG00000136378	ENST00000388820	T	0.58797	0.31	4.21	-0.322	0.12713	.	0.903051	0.09539	N	0.788564	T	0.45418	0.1341	M	0.64997	1.995	0.09310	N	1	B	0.28713	0.22	B	0.24541	0.054	T	0.29150	-1.0021	10	0.15499	T	0.54	.	4.2921	0.10883	0.3173:0.2487:0.434:0.0	.	1152	Q9UKP4	ATS7_HUMAN	T	1152	ENSP00000373472:P1152T	ENSP00000373472:P1152T	P	-	1	0	ADAMTS7	76845854	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.106000	0.15354	0.033000	0.15463	-0.240000	0.12126	CCT		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		T	79058799	G	T	79058799	3	4	202	1	0	0	0	0	1	0	0	0	271	1232	43	3	1630	3	ADAMTS7	15	79058799	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09		79058799	23472593	89	11787											
TIMM16	51025	genome.wustl.edu	37	16	4390365	4390365	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr16:4390365G>C	ENST00000318059.3	-	5	470	c.333C>G	c.(331-333)atC>atG	p.I111M	CORO7-PAM16_ENST00000572274.1_5'Flank|PAM16_ENST00000575848.1_Missense_Mutation_p.I123M|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000576217.1_Missense_Mutation_p.I111M|PAM16_ENST00000571941.1_Missense_Mutation_p.I131M|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.I1034M|PAM16_ENST00000573553.1_Missense_Mutation_p.I131M	NM_016069.9	NP_057153.8	Q9Y3D7	TIM16_HUMAN	presequence translocase-associated motor 16 homolog (S. cerevisiae)	111					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane presequence translocase complex (GO:0005744)				lung(3)	3						CCTGGGCCTGGATTTTGAGTT	0.602																																																0			16											86	84	85					16																	4390365		2197	4299	6496	4330366	SO:0001583	missense	51025			AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930			29679	protein-coding gene	gene with protein product	"mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction"	614336				10810093, 11750097	Standard	NM_016069		Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000318059.3:c.333C>G	16.37:g.4390365G>C	ENSP00000315693:p.Ile111Met		4330366	Q6I9Z3|Q9H5X3	Missense_Mutation	SNP	ENST00000318059.3	37	CCDS10512.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032442	0.54790	.	.	ENSG00000217930	ENST00000318059	T	0.50548	0.74	6.17	5.2	0.72013	.	.	.	.	.	T	0.45034	0.1322	L	0.50333	1.59	0.27512	N	0.951674	B	0.28933	0.228	B	0.30251	0.113	T	0.35822	-0.9773	9	0.31617	T	0.26	-16.5284	14.5529	0.68081	0.0:0.0:0.849:0.151	.	111	Q9Y3D7	TIM16_HUMAN	M	111	ENSP00000315693:I111M	ENSP00000315693:I111M	I	-	3	3	PAM16	4330366	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.134000	0.50538	1.564000	0.49628	0.655000	0.94253	ATC		0.602	PAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251629.2	NM_016069		C	4390365	G	C	4390365	3	2	202	1	0	0	0	0	1	0	0	0	15907	1164	41	3	48	3	TIMM16	16	4390365	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09		4390365	85964388	90	11788											
ABCC6	368	genome.wustl.edu	37	16	16244575	16244575	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr16:16244575C>A	ENST00000205557.7	-	30	4292	c.4263G>T	c.(4261-4263)caG>caT	p.Q1421H		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1421	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GGATGAGGATCTGGGTCTTCC	0.617																																																0			16											46	40	42					16																	16244575		2197	4300	6497	16152076	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4263G>T	16.37:g.16244575C>A	ENSP00000205557:p.Gln1421His		16152076	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265963	0.59540	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.94184	-3.37	4.36	3.38	0.38709	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.172710	0.26096	U	0.026371	D	0.91036	0.7180	N	0.17872	0.535	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.64410	0.925;0.925	D	0.89619	0.3847	10	0.87932	D	0	.	4.6619	0.12646	0.0:0.5783:0.194:0.2278	.	1421;1421	O95255;A8Y988	MRP6_HUMAN;.	H	1421;359	ENSP00000205557:Q1421H	ENSP00000205557:Q1421H	Q	-	3	2	ABCC6	16152076	0.992000	0.36948	1.000000	0.80357	0.972000	0.66771	0.376000	0.20535	2.154000	0.67381	0.549000	0.68633	CAG		0.617	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			A	16244575	C	A	16244575	3	1	202	1	0	0	0	0	1	0	0	0	57	912	32	3	256	3	ABCC6	16	16244575	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	11854210	16244575	74110178	91	11789											
GTF3C1	2975	genome.wustl.edu	37	16	27549656	27549656	+	Silent	SNP	G	G	A	rs367815308		TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr16:27549656G>A	ENST00000356183.4	-	3	468	c.453C>T	c.(451-453)atC>atT	p.I151I	GTF3C1_ENST00000561623.1_Silent_p.I151I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	151					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGAGGCAACGATGATCAGTT	0.493																																																0			16						G		2,4392	4.2+/-10.8	0,2,2195	65	60	62		453	-7.6	0.8	16		62	0,8600		0,0,4300	no	coding-synonymous	GTF3C1	NM_001520.3		0,2,6495	AA,AG,GG		0.0,0.0455,0.0154		151/2110	27549656	2,12992	2197	4300	6497	27457157	SO:0001819	synonymous_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.453C>T	16.37:g.27549656G>A			27457157	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																				0.493	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		A	27549656	G	A	27549656	2	1	202	1	0	0	0	0	0	0	0	1	6872	1048	37	1		1	GTF3C1	16	27549656	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09	11305081	27549656	62805097	92	11790											
SLC12A4	6560	genome.wustl.edu	37	16	67979072	67979072	+	Silent	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr16:67979072G>A	ENST00000316341.3	-	23	3224	c.3084C>T	c.(3082-3084)gtC>gtT	p.V1028V	CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Silent_p.V1022V|SLC12A4_ENST00000338335.3_3'UTR|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000422611.2_Silent_p.V1030V|SLC12A4_ENST00000576616.1_Silent_p.V1028V|SLC12A4_ENST00000541864.2_Silent_p.V997V|SLC12A4_ENST00000572037.1_Silent_p.V980V	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1028					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCGTGACAATGACTTCATTGA	0.577																																																0			16											138	126	130					16																	67979072		2198	4300	6498	66536573	SO:0001819	synonymous_variant	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.3084C>T	16.37:g.67979072G>A			66536573	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	CCDS10855.1																																																																																				0.577	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		A	67979072	G	A	67979072	2	1	202	1	0	0	0	0	0	0	0	1	14388	1277	45	2		2	SLC12A4	16	67979072	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09	40429416	67979072	22375681	93	11791											
ANKRD11	29123	genome.wustl.edu	37	16	89334918	89334918	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr16:89334918C>T	ENST00000301030.4	-	13	8420	c.7960G>A	c.(7960-7962)Gtc>Atc	p.V2654I	AC137932.1_ENST00000602042.1_3'UTR|RP11-46C24.5_ENST00000566427.1_lincRNA|ANKRD11_ENST00000378330.2_Missense_Mutation_p.V2654I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2654					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCGTCGTTGACGTCGACCATG	0.662																																																0			16											5	5	5					16																	89334918		2077	4109	6186	87862419	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7960G>A	16.37:g.89334918C>T	ENSP00000301030:p.Val2654Ile		87862419	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239890	0.39598	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.60672	0.17;0.17	4.36	3.39	0.38822	.	0.000000	0.48767	D	0.000167	T	0.73877	0.3643	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76642	-0.2884	10	0.59425	D	0.04	.	13.7849	0.63104	0.1548:0.8452:0.0:0.0	.	2654	Q6UB99	ANR11_HUMAN	I	2654	ENSP00000301030:V2654I;ENSP00000367581:V2654I	ENSP00000301030:V2654I	V	-	1	0	ANKRD11	87862419	1.000000	0.71417	0.594000	0.28785	0.001000	0.01503	7.617000	0.83032	0.939000	0.37446	-0.324000	0.08512	GTC		0.662	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89334918	C	T	89334918	3	4	202	1	0	0	0	0	1	0	0	0	639	536	19	1	35	1	ANKRD11	16	89334918	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	21355846	89334918	1019835	94	11792											
ZNF276	92822	genome.wustl.edu	37	16	89789687	89789687	+	Silent	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr16:89789687C>T	ENST00000443381.2	+	4	673	c.576C>T	c.(574-576)agC>agT	p.S192S	ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000568064.1_Splice_Site_p.A111V|ZNF276_ENST00000289816.5_Silent_p.S117S|VPS9D1_ENST00000389386.3_5'Flank	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCACATCCAGCCCCCAGTGCC	0.652																																																0			16											58	56	57					16																	89789687		2197	4299	6496	88317188	SO:0001819	synonymous_variant	92822			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.576C>T	16.37:g.89789687C>T			88317188	Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	CCDS45554.1																																																																																				0.652	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		T	89789687	C	T	89789687	2	4	202	1	0	0	0	0	0	0	0	1	17811	738	26	2		2	ZNF276	16	89789687	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	454769	89789687	565066	95	11793											
TP53	7157	genome.wustl.edu	37	17	7577579	7577579	+	Nonsense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr17:7577579G>C	ENST00000269305.4	-	7	891	c.702C>G	c.(700-702)taC>taG	p.Y234*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Y234*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y234*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y234*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y234*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Y234*	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.Y234*(4)|p.Y234del(3)|p.N235fs*5(2)|p.N235fs*6(1)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234Y(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.V225fs*23(1)|p.Y234_N235insX(1)|p.Y234fs*4(1)|p.H233_C242del10(1)|p.D228fs*12(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)	ACATGTAGTTGTAGTGGATGG	0.577		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"	33	Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(5)|Substitution - Nonsense(4)|Insertion - Frameshift(3)|Insertion - In frame(1)|Substitution - coding silent(1)	biliary_tract(6)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|bone(4)|central_nervous_system(3)|oesophagus(2)|ovary(2)|upper_aerodigestive_tract(1)|cervix(1)|vulva(1)|stomach(1)|large_intestine(1)|lung(1)|skin(1)|liver(1)	17											120	95	104					17																	7577579		2203	4300	6503	7518304	SO:0001587	stop_gained	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.702C>G	17.37:g.7577579G>C	ENSP00000269305:p.Tyr234*		7518304	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584528	0.65992	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	4.62	3.63	0.41609	.	0.211900	0.41823	D	0.000804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1131	11.0852	0.48082	0.0925:0.0:0.9075:0.0	.	.	.	.	X	234;234;234;234;234;234;223;141;102;141	.	ENSP00000269305:Y234X	Y	-	3	2	TP53	7518304	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.037000	0.30241	1.281000	0.44480	0.462000	0.41574	TAC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577579	G	C	7577579	4	2	202	1	0	0	0	0	0	1	0	0	16381	1372	48	3	588	3	TP53	17	7577579	Nonsense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09		7577579	73617631	96	11794											
MYOCD	93649	genome.wustl.edu	37	17	12666711	12666711	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr17:12666711T>G	ENST00000343344.4	+	13	2567	c.2567T>G	c.(2566-2568)aTc>aGc	p.I856S	MYOCD_ENST00000425538.1_Missense_Mutation_p.I904S|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	856					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCACATGAGATCTTGCCAGGC	0.502																																																0			17											85	71	76					17																	12666711		2203	4300	6503	12607436	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2567T>G	17.37:g.12666711T>G	ENSP00000341835:p.Ile856Ser		12607436	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534361	0.45073	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.56444	0.46;0.47	6.08	6.08	0.98989	.	0.248184	0.41823	D	0.000807	T	0.62636	0.2444	M	0.65498	2.005	0.80722	D	1	P;P;B	0.51791	0.917;0.948;0.418	B;P;B	0.50231	0.282;0.635;0.167	T	0.67078	-0.5761	10	0.87932	D	0	-26.1798	15.6264	0.76863	0.0:0.0:0.0:1.0	.	580;904;856	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	S	580;904;856;566	ENSP00000341835:I856S;ENSP00000400148:I566S	ENSP00000341835:I856S	I	+	2	0	MYOCD	12607436	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.271000	0.51608	2.333000	0.79357	0.533000	0.62120	ATC		0.502	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		G	12666711	T	G	12666711	3	3	202	1	0	0	0	0	1	0	0	0	10087	1435	50	5	2777	5	MYOCD	17	12666711	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	5089132	12666711	68528499	97	11795											
TRPV2	51393	genome.wustl.edu	37	17	16326074	16326074	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr17:16326074G>A	ENST00000338560.7	+	4	895	c.496G>A	c.(496-498)Gct>Act	p.A166T	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	166	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGGCCACAGCGCTCTGCACAT	0.587																																																0			17											65	54	58					17																	16326074		2203	4299	6502	16266799	SO:0001583	missense	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.496G>A	17.37:g.16326074G>A	ENSP00000342222:p.Ala166Thr		16266799	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	CCDS32576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.255643|5.255643	0.95336|0.95336	.|.	.|.	ENSG00000187688|ENSG00000187688	ENST00000338560|ENST00000455666	T|.	0.74209|.	-0.82|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76478|0.76478	0.3993|0.3993	M|M	0.70108|0.70108	2.13|2.13	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.73754|0.73754	-0.3883|-0.3883	10|5	0.72032|.	D|.	0.01|.	-18.4928|-18.4928	19.3475|19.3475	0.94370|0.94370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	166|.	Q9Y5S1|.	TRPV2_HUMAN|.	T|H	166|123	ENSP00000342222:A166T|.	ENSP00000342222:A166T|.	A|R	+|+	1|2	0|0	TRPV2|TRPV2	16266799|16266799	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.677000|0.677000	0.39632|0.39632	7.339000|7.339000	0.79282|0.79282	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GCT|CGC		0.587	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		A	16326074	G	A	16326074	3	1	202	1	0	0	0	0	1	0	0	0	16596	1087	38	1	506	1	TRPV2	17	16326074	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	3659363	16326074	64869136	98	11796											
KIAA0100	9703	genome.wustl.edu	37	17	26962549	26962549	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr17:26962549G>C	ENST00000528896.2	-	16	2130	c.2056C>G	c.(2056-2058)Cta>Gta	p.L686V	KIAA0100_ENST00000544884.1_Missense_Mutation_p.L543V|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L543V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	686						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CGGCACTGTAGAGTGGCCAGG	0.527																																																0			17											77	74	75					17																	26962549		2203	4300	6503	23986676	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2056C>G	17.37:g.26962549G>C	ENSP00000436773:p.Leu686Val		23986676	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	9.427	1.084599	0.20309	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23754	1.91;1.89	5.71	1.03	0.20045	.	0.308684	0.32687	N	0.005780	T	0.13713	0.0332	L	0.43152	1.355	0.09310	N	1	P	0.37466	0.596	B	0.26770	0.073	T	0.18429	-1.0337	10	0.26408	T	0.33	.	5.0962	0.14735	0.3894:0.0:0.4817:0.1289	.	686	Q14667	K0100_HUMAN	V	686;686;686;543	ENSP00000436773:L686V;ENSP00000446443:L543V	ENSP00000005905:L686V	L	-	1	2	KIAA0100	23986676	0.006000	0.16342	0.024000	0.17045	0.355000	0.29361	-0.015000	0.12634	-0.020000	0.14032	0.563000	0.77884	CTA		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		C	26962549	G	C	26962549	3	2	202	1	0	0	0	0	1	0	0	0	8154	933	33	3	4747	3	KIAA0100	17	26962549	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	10636475	26962549	54232661	99	11797											
TAOK1	57551	genome.wustl.edu	37	17	27794198	27794198	+	Silent	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr17:27794198C>T	ENST00000261716.3	+	3	687	c.168C>T	c.(166-168)atC>atT	p.I56I	TAOK1_ENST00000536202.1_Silent_p.I56I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGTGGCCATCAAGAAAATGT	0.328																																																0			17											121	120	121					17																	27794198		2203	4300	6503	24818324	SO:0001819	synonymous_variant	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.168C>T	17.37:g.27794198C>T			24818324	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	ENST00000261716.3	37	CCDS32601.1																																																																																				0.328	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		T	27794198	C	T	27794198	2	4	202	1	0	0	0	0	0	0	0	1	15547	816	29	2		2	TAOK1	17	27794198	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	831649	27794198	53401012	100	11798											
ATAD5	79915	genome.wustl.edu	37	17	29184107	29184107	+	Nonsense_Mutation	SNP	A	A	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr17:29184107A>T	ENST00000321990.4	+	8	3148	c.2770A>T	c.(2770-2772)Aaa>Taa	p.K924*	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	924					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTCAAAGTTGAAAAGCGGTAA	0.333																																																0			17											106	105	105					17																	29184107		2203	4300	6503	26208233	SO:0001587	stop_gained	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2770A>T	17.37:g.29184107A>T	ENSP00000313171:p.Lys924*		26208233	Q05DH0|Q69YR6|Q9H9I1	Nonsense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	40	8.342169	0.98769	.	.	ENSG00000176208	ENST00000321990	.	.	.	5.36	3.1	0.35709	.	0.609988	0.16017	N	0.233482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9401	0.24488	0.7737:0.1499:0.0765:0.0	.	.	.	.	X	924	.	ENSP00000313171:K924X	K	+	1	0	ATAD5	26208233	0.002000	0.14202	0.006000	0.13384	0.008000	0.06430	1.668000	0.37481	0.316000	0.23135	-0.353000	0.07706	AAA		0.333	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		T	29184107	A	T	29184107	4	4	202	1	0	0	0	0	0	1	0	0	1076	247	9	5	2800	5	ATAD5	17	29184107	Nonsense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	1389909	29184107	52011103	101	11799											
WNK4	65266	genome.wustl.edu	37	17	40939863	40939863	+	Silent	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr17:40939863G>A	ENST00000246914.5	+	8	1830	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	603					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGCCCTTCAGCCCCCTGGGG	0.642																																					Esophageal Squamous(6;201 374 4964 23855 42828)											0			17											37	40	39					17																	40939863		2157	4220	6377	38193389	SO:0001819	synonymous_variant	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1809G>A	17.37:g.40939863G>A			38193389	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	CCDS11439.1																																																																																				0.642	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			A	40939863	G	A	40939863	2	1	202	1	0	0	0	0	0	0	0	1	17380	962	34	2		2	WNK4	17	40939863	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09	11755756	40939863	40255347	102	11800											
NUP85	79902	genome.wustl.edu	37	17	73228962	73228962	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr17:73228962G>C	ENST00000245544.4	+	15	1484	c.1413G>C	c.(1411-1413)aaG>aaC	p.K471N	NUP85_ENST00000579324.1_Missense_Mutation_p.K359N|NUP85_ENST00000579298.1_Missense_Mutation_p.K426N|NUP85_ENST00000540768.1_Missense_Mutation_p.K74N|NUP85_ENST00000447371.2_Missense_Mutation_p.K303N|NUP85_ENST00000541827.1_Missense_Mutation_p.K425N	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	471					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GCATTTGTAAGATCTTAGCCA	0.542																																																0			17											165	167	166					17																	73228962		2203	4300	6503	70740557	SO:0001583	missense	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1413G>C	17.37:g.73228962G>C	ENSP00000245544:p.Lys471Asn		70740557	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569200	0.28003	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.85859	2.78	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.80395	-0.1400	9	0.46703	T	0.11	-31.8175	12.1321	0.53948	0.1245:0.0:0.8755:0.0	.	425;471	B4DMQ3;Q9BW27	.;NUP85_HUMAN	N	471;425;303;74	.	ENSP00000245544:K471N	K	+	3	2	NUP85	70740557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.139000	0.42149	2.579000	0.87056	0.655000	0.94253	AAG		0.542	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		C	73228962	G	C	73228962	3	2	202	1	0	0	0	0	1	0	0	0	10770	933	33	3	1471	3	NUP85	17	73228962	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	32289099	73228962	7966248	103	11801											
CETN1	1068	genome.wustl.edu	37	18	580774	580774	+	Silent	SNP	G	G	A	rs199682997		TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr18:580774G>A	ENST00000327228.3	+	1	408	c.366G>A	c.(364-366)tcG>tcA	p.S122S		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	122	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGAAGATCTCGTTCAAAAACC	0.557																																																0			18											87	90	89					18																	580774		2203	4300	6503	570774	SO:0001819	synonymous_variant	1068			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.366G>A	18.37:g.580774G>A			570774	B2R536	Silent	SNP	ENST00000327228.3	37	CCDS11820.1																																																																																				0.557	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		A	580774	G	A	580774	2	1	202	1	0	0	0	0	0	0	0	1	3274	1132	40	1		1	CETN1	18	580774	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09		580774	77496474	104	11802											
CEP76	79959	genome.wustl.edu	37	18	12686335	12686335	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr18:12686335G>C	ENST00000262127.2	-	8	1273	c.1048C>G	c.(1048-1050)Cga>Gga	p.R350G	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.R275G|PSMG2_ENST00000589405.1_3'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	350					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGGGGCTCGTTCATAACCA	0.433																																																0			18											111	100	103					18																	12686335		2203	4300	6503	12676335	SO:0001583	missense	79959			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1048C>G	18.37:g.12686335G>C	ENSP00000262127:p.Arg350Gly		12676335	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799034	0.50208	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.80123	-1.34;-1.32	5.74	0.954	0.19595	.	0.089737	0.85682	D	0.000000	T	0.75087	0.3802	L	0.59436	1.845	0.52501	D	0.999958	P;P;P	0.48589	0.912;0.785;0.6	B;B;B	0.41723	0.365;0.193;0.193	T	0.70615	-0.4823	10	0.21540	T	0.41	-12.9701	14.7869	0.69810	0.0:0.0:0.4508:0.5492	.	275;350;172	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	G	350;275	ENSP00000262127:R350G;ENSP00000403074:R275G	ENSP00000262127:R350G	R	-	1	2	CEP76	12676335	1.000000	0.71417	0.913000	0.36048	0.971000	0.66376	1.584000	0.36589	-0.050000	0.13356	0.591000	0.81541	CGA		0.433	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		C	12686335	G	C	12686335	3	2	202	1	0	0	0	0	1	0	0	0	3261	1153	40	3	951	3	CEP76	18	12686335	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	12105561	12686335	65390913	105	11803											
NOL4	8715	genome.wustl.edu	37	18	31523052	31523052	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr18:31523052T>C	ENST00000261592.5	-	9	1816	c.1519A>G	c.(1519-1521)Agg>Ggg	p.R507G	NOL4_ENST00000535384.1_Missense_Mutation_p.R222G|NOL4_ENST00000535475.1_Missense_Mutation_p.R288G|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R433G|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	507						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGACGCATCCTCTTGGCGGCA	0.433																																																0			18											105	95	98					18																	31523052		2203	4299	6502	29777050	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1519A>G	18.37:g.31523052T>C	ENSP00000261592:p.Arg507Gly		29777050	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554596	0.65425	.	.	ENSG00000101746	ENST00000261592;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.87	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	M	0.71206	2.165	0.42947	D	0.994361	D;D;D;D;D;P	0.89917	0.989;1.0;1.0;0.997;1.0;0.51	D;D;D;D;D;B	0.87578	0.985;0.998;0.998;0.971;0.998;0.419	T	0.79070	-0.1954	9	0.62326	D	0.03	-18.6544	13.3487	0.60589	0.0:0.0:0.3698:0.6302	.	192;222;433;507;222;288	F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;B3KRF4	.;.;.;NOL4_HUMAN;.;.	G	507;192;222;288;433	.	ENSP00000261592:R507G	R	-	1	2	NOL4	29777050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.415000	0.52700	1.025000	0.39708	0.528000	0.53228	AGG		0.433	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		C	31523052	T	C	31523052	3	2	202	1	0	0	0	0	1	0	0	0	10524	1550	54	4	409	4	NOL4	18	31523052	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	18836717	31523052	46554196	106	11804											
TCEB3B	51224	genome.wustl.edu	37	18	44559660	44559660	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr18:44559660T>C	ENST00000332567.4	-	1	2328	c.1976A>G	c.(1975-1977)gAg>gGg	p.E659G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	659	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCAGACTTCTCTTGCCTCCT	0.567																																																0			18											113	115	114					18																	44559660		2203	4300	6503	42813658	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1976A>G	18.37:g.44559660T>C	ENSP00000331302:p.Glu659Gly		42813658	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	T	7.419	0.636368	0.14386	.	.	ENSG00000206181	ENST00000332567	T	0.10005	2.92	1.4	0.235	0.15431	.	0.344460	0.20558	N	0.089967	T	0.08891	0.0220	L	0.55990	1.75	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.24870	-1.0148	10	0.66056	D	0.02	-12.6401	3.1376	0.06444	0.0:0.254:0.0:0.746	.	659	Q8IYF1	ELOA2_HUMAN	G	659	ENSP00000331302:E659G	ENSP00000331302:E659G	E	-	2	0	TCEB3B	42813658	0.004000	0.15560	0.002000	0.10522	0.006000	0.05464	1.109000	0.31135	0.057000	0.16193	0.496000	0.49642	GAG		0.567	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		C	44559660	T	C	44559660	3	2	202	1	0	0	0	0	1	0	0	0	15682	1551	54	4	289	4	TCEB3B	18	44559660	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	13036608	44559660	33517588	107	11805											
ALPK2	115701	genome.wustl.edu	37	18	56204618	56204618	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr18:56204618G>C	ENST00000361673.3	-	5	3014	c.2801C>G	c.(2800-2802)cCc>cGc	p.P934R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	934						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGTTGCTGGGGCTTGGCTG	0.512																																																0			18											43	47	46					18																	56204618		2203	4300	6503	54355598	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2801C>G	18.37:g.56204618G>C	ENSP00000354991:p.Pro934Arg		54355598	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516054	0.44763	.	.	ENSG00000198796	ENST00000361673	T	0.48522	0.81	5.2	3.3	0.37823	.	1.026590	0.07734	N	0.945695	T	0.60287	0.2257	L	0.52573	1.65	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.97	T	0.42413	-0.9453	10	0.72032	D	0.01	-6.0956	5.5441	0.17053	0.0997:0.0:0.7036:0.1967	.	934;934	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	934	ENSP00000354991:P934R	ENSP00000354991:P934R	P	-	2	0	ALPK2	54355598	0.001000	0.12720	0.207000	0.23584	0.009000	0.06853	-0.235000	0.09016	1.198000	0.43158	0.591000	0.81541	CCC		0.512	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		C	56204618	G	C	56204618	3	2	202	1	0	0	0	0	1	0	0	0	545	1232	43	3	3747	3	ALPK2	18	56204618	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	11644958	56204618	21872630	108	11806											
MED16	10025	genome.wustl.edu	37	19	871095	871095	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr19:871095C>G	ENST00000589119.1	-	12	2256	c.2257G>C	c.(2257-2259)Ggc>Cgc	p.G753R	MED16_ENST00000325464.1_Missense_Mutation_p.G753R|MED16_ENST00000395808.3_Missense_Mutation_p.G753R|MED16_ENST00000269814.4_Missense_Mutation_p.L688F|MED16_ENST00000606828.1_5'Flank|MED16_ENST00000312090.6_Missense_Mutation_p.G772R			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	753					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCCGGCCAAACTGCAGA	0.682																																																0			19											12	14	13					19																	871095		1889	3654	5543	822095	SO:0001583	missense	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.2257G>C	19.37:g.871095C>G	ENSP00000464810:p.Gly753Arg		822095	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.54|11.54	1.670615|1.670615	0.29693|0.29693	.|.	.|.	ENSG00000175221|ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808|ENST00000269814	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	4.13|4.13	1.88|1.88	0.25563|0.25563	.|.	0.072510|.	0.56097|.	U|.	0.000040|.	T|T	0.38054|0.38054	0.1026|0.1026	L|L	0.56769|0.56769	1.78|1.78	0.26802|0.26802	N|N	0.96918|0.96918	B;B|P	0.15930|0.39883	0.005;0.015|0.693	B;B|B	0.20577|0.39840	0.011;0.03|0.311	T|T	0.16394|0.16394	-1.0404|-1.0404	10|8	0.62326|0.33940	D|T	0.03|0.23	-39.2741|-39.2741	8.6497|8.6497	0.34027|0.34027	0.0:0.7616:0.1502:0.0882|0.0:0.7616:0.1502:0.0882	.|.	772;753|688	Q9Y2X0-3;Q9Y2X0|Q9Y2X0-4	.;MED16_HUMAN|.	R|F	753;772;753|688	ENSP00000325612:G753R;ENSP00000308528:G772R;ENSP00000379153:G753R|.	ENSP00000308528:G772R|ENSP00000269814:L688F	G|L	-|-	1|3	0|2	MED16|MED16	822095|822095	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.017000|0.017000	0.09413|0.09413	5.242000|5.242000	0.65389|0.65389	0.702000|0.702000	0.31825|0.31825	0.543000|0.543000	0.68304|0.68304	GGC|TTG		0.682	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		G	871095	C	G	871095	3	3	202	1	0	0	0	0	1	0	0	0	9434	594	21	3	392	3	MED16	19	871095	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09		871095	58257888	109	11807											
TMEM38A	79041	genome.wustl.edu	37	19	16799107	16799107	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr19:16799107T>A	ENST00000187762.2	+	6	916	c.825T>A	c.(823-825)caT>caA	p.H275Q		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	275						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GAGCTCAGCATTCGGCCATGC	0.647																																																0			19											62	64	63					19																	16799107		2203	4300	6503	16660107	SO:0001583	missense	79041			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.825T>A	19.37:g.16799107T>A	ENSP00000187762:p.His275Gln		16660107	A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	t	0.052	-1.247763	0.01469	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.17	0.58	0.17402	.	0.669254	0.14953	N	0.288815	T	0.22666	0.0547	N	0.25647	0.755	0.09310	N	0.999999	B	0.21309	0.054	B	0.18263	0.021	T	0.22034	-1.0228	9	0.13108	T	0.6	-3.8583	5.2858	0.15700	0.0:0.3557:0.1479:0.4965	.	275	Q9H6F2	TM38A_HUMAN	Q	275	.	ENSP00000187762:H275Q	H	+	3	2	TMEM38A	16660107	0.027000	0.19231	0.081000	0.20488	0.301000	0.27625	-0.195000	0.09546	0.180000	0.19960	0.459000	0.35465	CAT		0.647	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		A	16799107	T	A	16799107	3	1	202	1	0	0	0	0	1	0	0	0	16159	1490	52	5	847	5	TMEM38A	19	16799107	Missense_Mutation	SNP	T	TCGA-23-2649-01A-01D-1526-09	15928012	16799107	42329876	110	11808											
CCDC8	83987	genome.wustl.edu	37	19	46915441	46915441	+	Silent	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr19:46915441C>T	ENST00000307522.3	-	1	1400	c.627G>A	c.(625-627)agG>agA	p.R209R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	209					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AACCCTTCACCCTCCGCTTCA	0.692																																																0			19											17	17	17					19																	46915441		2201	4295	6496	51607281	SO:0001819	synonymous_variant	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.627G>A	19.37:g.46915441C>T			51607281	Q8TB26	Silent	SNP	ENST00000307522.3	37	CCDS12685.1																																																																																				0.692	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		T	46915441	C	T	46915441	2	4	202	1	0	0	0	0	0	0	0	1	2853	622	22	2		2	CCDC8	19	46915441	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	30116334	46915441	12213542	111	11809											
SLC32A1	140679	genome.wustl.edu	37	20	37356582	37356582	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr20:37356582C>T	ENST00000217420.1	+	2	1141	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	293					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCGACTGGGCCTGGGAGAAG	0.547																																																0			20											77	59	65					20																	37356582		2203	4300	6503	36789996	SO:0001583	missense	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.878C>T	20.37:g.37356582C>T	ENSP00000217420:p.Ala293Val		36789996	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893141	0.33442	.	.	ENSG00000101438	ENST00000217420	T	0.02236	4.38	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	L	0.43152	1.355	0.80722	D	1	P	0.34757	0.467	B	0.38296	0.27	T	0.55780	-0.8087	10	0.41790	T	0.15	-17.2041	15.1458	0.72650	0.0:1.0:0.0:0.0	.	293	Q9H598	VIAAT_HUMAN	V	293	ENSP00000217420:A293V	ENSP00000217420:A293V	A	+	2	0	SLC32A1	36789996	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.756000	0.85195	2.255000	0.74692	0.462000	0.41574	GCC		0.547	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		T	37356582	C	T	37356582	3	4	202	1	0	0	0	0	1	0	0	0	14568	739	26	2	884	2	SLC32A1	20	37356582	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09		37356582	25668938	112	11810											
LIPI	149998	genome.wustl.edu	37	21	15517068	15517068	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr21:15517068A>G	ENST00000536861.1	-	9	1170	c.1171T>C	c.(1171-1173)Tat>Cat	p.Y391H	AP001347.6_ENST00000428809.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.Y412H|AP001347.6_ENST00000432621.1_RNA			Q6XZB0	LIPI_HUMAN	lipase, member I	391					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAGTCATTATAAAATTGAGCA	0.313																																																0			21											53	57	55					21																	15517068		2202	4296	6498	14438939	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1171T>C	21.37:g.15517068A>G	ENSP00000440381:p.Tyr391His		14438939	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	A	3.205	-0.162817	0.06502	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.87571	-2.27;-2.25	5.34	1.57	0.23409	.	0.859781	0.10214	N	0.701745	T	0.73799	0.3633	N	0.19112	0.55	0.09310	N	0.999997	B	0.16603	0.018	B	0.18561	0.022	T	0.55927	-0.8063	10	0.15499	T	0.54	.	4.6369	0.12528	0.6515:0.1706:0.1778:0.0	.	412	Q6XZB0-2	.	H	412;391	ENSP00000343331:Y412H;ENSP00000440381:Y391H	ENSP00000343331:Y412H	Y	-	1	0	LIPI	14438939	0.720000	0.27996	0.296000	0.24974	0.426000	0.31534	1.106000	0.31098	0.081000	0.16988	-0.297000	0.09499	TAT		0.313	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		G	15517068	A	G	15517068	3	3	202	1	0	0	0	0	1	0	0	0	8825	362	13	4	219	4	LIPI	21	15517068	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09		15517068	32612827	113	11811											
IFNAR1	3454	genome.wustl.edu	37	21	34725117	34725117	+	Silent	SNP	G	G	C			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr21:34725117G>C	ENST00000270139.3	+	9	1349	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	IFNAR1_ENST00000442357.2_Silent_p.L399L|IFNAR1_ENST00000416947.2_Silent_p.L330L	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	399	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	TGAAACCACTGACTGTATATT	0.333																																					Esophageal Squamous(73;817 1211 32990 35667 42746)											0			21											82	88	86					21																	34725117		2203	4300	6503	33646987	SO:0001819	synonymous_variant	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1197G>C	21.37:g.34725117G>C			33646987	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	CCDS13624.1																																																																																				0.333	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			C	34725117	G	C	34725117	2	2	202	1	0	0	0	0	0	0	0	1	7544	1277	45	3		3	IFNAR1	21	34725117	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09	19208049	34725117	13404778	114	11812											
TTC3	7267	genome.wustl.edu	37	21	38460546	38460546	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chr21:38460546G>A	ENST00000399017.2	+	4	2985	c.238G>A	c.(238-240)Gat>Aat	p.D80N	TTC3_ENST00000354749.2_Missense_Mutation_p.D80N|TTC3_ENST00000355666.1_Missense_Mutation_p.D80N|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Missense_Mutation_p.D80N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	80					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGTCCTGCAAGATTATTGCGA	0.333																																					Ovarian(38;194 1649 35661)											0			21											83	74	77					21																	38460546		2203	4300	6503	37382416	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.238G>A	21.37:g.38460546G>A	ENSP00000381981:p.Asp80Asn		37382416	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016253	0.54468	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.51325	2.54;0.71;2.54;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.233723	0.29300	N	0.012558	T	0.43809	0.1264	L	0.56769	1.78	0.80722	D	1	B	0.18741	0.03	B	0.21151	0.033	T	0.46978	-0.9152	10	0.87932	D	0	-8.7404	9.4973	0.38995	0.0982:0.0:0.9018:0.0	.	80	P53804	TTC3_HUMAN	N	80	ENSP00000403943:D80N;ENSP00000408456:D80N;ENSP00000391891:D80N;ENSP00000347889:D80N;ENSP00000381981:D80N;ENSP00000346791:D80N	ENSP00000346791:D80N	D	+	1	0	TTC3	37382416	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.748000	0.55142	2.359000	0.80004	0.557000	0.71058	GAT		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			A	38460546	G	A	38460546	3	1	202	1	0	0	0	0	1	0	0	0	16697	942	33	2	248	2	TTC3	21	38460546	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	3735429	38460546	9669349	115	11813											
MAP3K15	389840	genome.wustl.edu	37	X	19390893	19390893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chrX:19390893C>A	ENST00000338883.4	-	22	2985	c.2986G>T	c.(2986-2988)Gag>Tag	p.E996*	MAP3K15_ENST00000359173.3_Nonsense_Mutation_p.E431*|MAP3K15_ENST00000469203.2_Nonsense_Mutation_p.E828*|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	996							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCCCTGTCCTCCGGGGACGAG	0.607																																																0			X											77	68	71					X																	19390893		2203	4300	6503	19300814	SO:0001587	stop_gained	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2986G>T	X.37:g.19390893C>A	ENSP00000345629:p.Glu996*		19300814	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Nonsense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	c	38	6.982055	0.97979	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	.	.	.	5.58	4.72	0.59763	.	0.095273	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	13.4683	0.61268	0.0:0.9227:0.0:0.0773	.	.	.	.	X	996;431;828	.	ENSP00000345629:E996X	E	-	1	0	MAP3K15	19300814	1.000000	0.71417	0.042000	0.18584	0.057000	0.15508	5.607000	0.67648	1.114000	0.41781	0.525000	0.51046	GAG		0.607	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		A	19390893	C	A	19390893	4	1	202	1	0	0	0	0	0	1	0	0	9249	864	30	3	987	3	MAP3K15	23	19390893	Nonsense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09		19390893	135879667	116	11814											
FAM47A	158724	genome.wustl.edu	37	X	34148343	34148343	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chrX:34148343A>G	ENST00000346193.3	-	1	2104	c.2053T>C	c.(2053-2055)Tct>Cct	p.S685P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	685										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCGGTATAAGAATTCGATGGC	0.443																																																0			X											84	82	82					X																	34148343		2202	4300	6502	34058264	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2053T>C	X.37:g.34148343A>G	ENSP00000345029:p.Ser685Pro		34058264	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304255	0.10678	.	.	ENSG00000185448	ENST00000346193	T	0.62364	0.03	1.49	0.542	0.17174	.	.	.	.	.	T	0.42268	0.1195	L	0.28458	0.855	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.20907	-1.0261	9	0.23891	T	0.37	.	3.354	0.07163	0.3145:0.0:0.6855:0.0	.	685	Q5JRC9	FA47A_HUMAN	P	685	ENSP00000345029:S685P	ENSP00000345029:S685P	S	-	1	0	FAM47A	34058264	0.049000	0.20398	0.003000	0.11579	0.001000	0.01503	0.109000	0.15417	0.109000	0.17891	-0.488000	0.04728	TCT		0.443	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		G	34148343	A	G	34148343	3	3	202	1	0	0	0	0	1	0	0	0	5569	246	9	4	326	4	FAM47A	23	34148343	Missense_Mutation	SNP	A	TCGA-23-2649-01A-01D-1526-09	14757450	34148343	121122217	117	11815											
ALAS2	212	genome.wustl.edu	37	X	55047546	55047546	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chrX:55047546C>A	ENST00000330807.5	-	5	714	c.577G>T	c.(577-579)Gtc>Ttc	p.V193F	ALAS2_ENST00000498636.1_5'Flank|ALAS2_ENST00000396198.3_Missense_Mutation_p.V180F|ALAS2_ENST00000335854.4_Missense_Mutation_p.V156F	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	193					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTACACCAGACGGACACATCC	0.532																																																0			X											121	89	100					X																	55047546		2203	4300	6503	55064271	SO:0001583	missense	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.577G>T	X.37:g.55047546C>A	ENSP00000332369:p.Val193Phe		55064271	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434998	0.62955	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95069	-3.6;-3.6;-3.6	4.92	4.05	0.47172	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.118259	0.56097	D	0.000032	D	0.98027	0.9350	H	0.95574	3.69	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.85130	0.997;0.997;0.99	D	0.98074	1.0400	10	0.87932	D	0	-17.6432	14.9044	0.70706	0.0:0.9176:0.0:0.0824	.	156;180;193	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	F	193;180;156	ENSP00000332369:V193F;ENSP00000379501:V180F;ENSP00000337131:V156F	ENSP00000332369:V193F	V	-	1	0	ALAS2	55064271	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.364000	0.52328	0.438000	0.26450	-1.225000	0.01585	GTC		0.532	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		A	55047546	C	A	55047546	3	1	202	1	0	0	0	0	1	0	0	0	485	536	19	3	1214	3	ALAS2	23	55047546	Missense_Mutation	SNP	C	TCGA-23-2649-01A-01D-1526-09	20899203	55047546	100223014	118	11816											
ARMCX3	51566	genome.wustl.edu	37	X	100880002	100880002	+	Silent	SNP	C	C	T			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chrX:100880002C>T	ENST00000341189.4	+	5	899	c.33C>T	c.(31-33)acC>acT	p.T11T	ARMCX3_ENST00000537169.1_Silent_p.T11T|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_Silent_p.T11T|RP4-545K15.5_ENST00000564612.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	11					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GCTGGGTGACCGCAGGCCTGG	0.552																																																0			X											74	72	72					X																	100880002		2203	4300	6503	100766658	SO:0001819	synonymous_variant	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.33C>T	X.37:g.100880002C>T			100766658	Q53HC6|Q7LCF5|Q9NPE4	Silent	SNP	ENST00000341189.4	37	CCDS14489.1																																																																																				0.552	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		T	100880002	C	T	100880002	2	4	202	1	0	0	0	0	0	0	0	1	961	639	23	1		1	ARMCX3	23	100880002	Silent	SNP	C	TCGA-23-2649-01A-01D-1526-09	45832456	100880002	54390558	119	11817											
TCEAL1	9338	genome.wustl.edu	37	X	102885158	102885158	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chrX:102885158G>A	ENST00000372625.3	+	3	478	c.314G>A	c.(313-315)aGg>aAg	p.R105K	TCEAL1_ENST00000372624.3_Missense_Mutation_p.R105K|TCEAL1_ENST00000372626.3_Missense_Mutation_p.R105K	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	103					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1						TTTAAAGAAAGGTTGGCTCGT	0.483																																																0			X											80	75	77					X																	102885158		2203	4300	6503	102771814	SO:0001583	missense	9338			M99701	CCDS35358.1	Xq22.1	2014-03-21			ENSG00000172465	ENSG00000172465			11616	protein-coding gene	gene with protein product		300237				8206389, 7971997, 16221301	Standard	NM_004780		Approved	p21, pp21, SIIR, P21, WEX9	uc004eku.3	Q15170	OTTHUMG00000022699	ENST00000372625.3:c.314G>A	X.37:g.102885158G>A	ENSP00000361708:p.Arg105Lys		102771814	Q9UJQ9	Missense_Mutation	SNP	ENST00000372625.3	37	CCDS35358.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625800	0.87560	.	.	ENSG00000172465	ENST00000372626;ENST00000537029;ENST00000372625;ENST00000372624	T;T;T	0.10668	2.85;2.85;2.85	4.79	4.79	0.61399	.	0.000000	0.49916	D	0.000121	T	0.27454	0.0674	.	.	.	0.31597	N	0.653205	D	0.67145	0.996	D	0.75484	0.986	T	0.03673	-1.1014	9	0.31617	T	0.26	-7.5031	14.5691	0.68200	0.0:0.0:1.0:0.0	.	105	Q15170-2	.	K	105;102;105;105	ENSP00000361709:R105K;ENSP00000361708:R105K;ENSP00000361707:R105K	ENSP00000361707:R105K	R	+	2	0	TCEAL1	102771814	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	2.402000	0.44521	2.618000	0.88619	0.600000	0.82982	AGG		0.483	TCEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058903.1	NM_004780		A	102885158	G	A	102885158	3	1	202	1	0	0	0	0	1	0	0	0	15670	1000	35	2	316	2	TCEAL1	23	102885158	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	2005156	102885158	52385402	120	11818											
KLHL13	90293	genome.wustl.edu	37	X	117035836	117035836	+	Silent	SNP	G	G	A			TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chrX:117035836G>A	ENST00000262820.3	-	6	2349	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	KLHL13_ENST00000541812.1_Silent_p.G464G|KLHL13_ENST00000469946.1_Silent_p.G429G|KLHL13_ENST00000540167.1_Silent_p.G464G|KLHL13_ENST00000371882.1_Silent_p.G429G|KLHL13_ENST00000371878.1_Silent_p.G429G|KLHL13_ENST00000545703.1_Silent_p.G438G|KLHL13_ENST00000371876.1_Silent_p.G429G|KLHL13_ENST00000539496.1_Silent_p.G483G	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	480					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCCAGCATGGCCATAGTGGG	0.333																																																0			X											151	131	138					X																	117035836		2203	4300	6503	116919864	SO:0001819	synonymous_variant	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1440C>T	X.37:g.117035836G>A			116919864	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	CCDS14571.1																																																																																				0.333	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		A	117035836	G	A	117035836	2	1	202	1	0	0	0	0	0	0	0	1	8369	1190	42	2		2	KLHL13	23	117035836	Silent	SNP	G	TCGA-23-2649-01A-01D-1526-09	14150678	117035836	38234724	121	11819											
IRAK1	3654	genome.wustl.edu	37	X	153284523	153284523	+	Missense_Mutation	SNP	G	G	A	rs375736059		TCGA-23-2649-01A-01D-1526-09	TCGA-23-2649-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec4811e0-474e-424b-80a2-6ff67942d858	f9d52994-6177-4fed-9b86-d69514e13741	g.chrX:153284523G>A	ENST00000369980.3	-	4	610	c.443C>T	c.(442-444)cCa>cTa	p.P148L	IRAK1_ENST00000393682.1_Missense_Mutation_p.P174L|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000369974.2_Missense_Mutation_p.P148L|IRAK1_ENST00000429936.2_Missense_Mutation_p.P174L|IRAK1_ENST00000393687.2_Missense_Mutation_p.P148L|MIR718_ENST00000390190.2_RNA	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	148	ProST region.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGAGCCTGGAAAAGCTTC	0.612																																																0			X						G	LEU/PRO,LEU/PRO,LEU/PRO	1,3832		0,0,1,1632,568	41	45	44		443,443,443	4.2	0.3	X		44	0,6728		0,0,0,2428,1872	no	missense,missense,missense	IRAK1	NM_001025242.1,NM_001025243.1,NM_001569.3	98,98,98	0,0,1,4060,2440	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	148/683,148/634,148/713	153284523	1,10560	2201	4300	6501	152937717	SO:0001583	missense	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.443C>T	X.37:g.153284523G>A	ENSP00000358997:p.Pro148Leu		152937717	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.172096	0.78452	2.61E-4	0.0	ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000444230;ENST00000393687;ENST00000429936	T;T;T;T;T;T	0.75154	-0.91;-0.86;-0.82;1.76;-0.85;-0.86	4.17	4.17	0.49024	.	0.131699	0.34828	N	0.003660	D	0.83408	0.5248	M	0.72118	2.19	0.31001	N	0.720321	D;D;D;D	0.89917	0.997;1.0;0.997;0.998	P;D;P;D	0.91635	0.879;0.999;0.88;0.959	T	0.82918	-0.0219	10	0.62326	D	0.03	-8.2978	10.8649	0.46849	0.0:0.0:1.0:0.0	.	174;148;148;148	D3YTB5;P51617-4;P51617;P51617-2	.;.;IRAK1_HUMAN;.	L	148;148;174;144;148;174	ENSP00000358997:P148L;ENSP00000358991:P148L;ENSP00000377287:P174L;ENSP00000399974:P144L;ENSP00000377291:P148L;ENSP00000392662:P174L	ENSP00000358990:P174L	P	-	2	0	IRAK1	152937717	0.998000	0.40836	0.328000	0.25416	0.345000	0.29048	2.326000	0.43849	1.931000	0.55961	0.529000	0.55759	CCA		0.612	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			A	153284523	G	A	153284523	3	1	202	1	0	0	0	0	1	0	0	0	7821	1348	47	2	1739	2	IRAK1	23	153284523	Missense_Mutation	SNP	G	TCGA-23-2649-01A-01D-1526-09	36248687	153284523	1986037	122	11820											
LRRC7	57554	genome.wustl.edu	37	1	70504682	70504682	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr1:70504682G>T	ENST00000035383.5	+	19	3091	c.3061G>T	c.(3061-3063)Gct>Tct	p.A1021S	LRRC7_ENST00000310961.5_Missense_Mutation_p.A1026S|LRRC7_ENST00000415775.2_Missense_Mutation_p.A305S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1021						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A1021S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAACAAAAAGCTTCTATGAC	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											40	42	41					1																	70504682		2203	4300	6503	70277270	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3061G>T	1.37:g.70504682G>T	ENSP00000035383:p.Ala1021Ser		70277270	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	3.588	-0.084187	0.07097	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37058	1.22;1.29;2.38	5.63	4.7	0.59300	.	0.210330	0.42053	D	0.000765	T	0.06645	0.0170	N	0.04508	-0.205	0.30276	N	0.791804	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.20874	-1.0262	10	0.21014	T	0.42	.	10.2298	0.43247	0.0:0.1798:0.6913:0.1289	.	305;1021;1021	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	1026;1021;305;844	ENSP00000309245:A1026S;ENSP00000035383:A1021S;ENSP00000394867:A305S	ENSP00000035383:A1021S	A	+	1	0	LRRC7	70277270	1.000000	0.71417	0.241000	0.24154	0.003000	0.03518	3.225000	0.51246	2.653000	0.90120	0.563000	0.77884	GCT		0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		T	70504682	G	T	70504682	3	4	203	1	0	0	0	0	1	0	0	0	9020	971	34	3	3135	3	LRRC7	1	70504682	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09		70504682	178745939	1	11821											
NOTCH2	4853	genome.wustl.edu	37	1	120491095	120491095	+	Silent	SNP	T	T	C			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr1:120491095T>C	ENST00000256646.2	-	17	2913	c.2694A>G	c.(2692-2694)gaA>gaG	p.E898E		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	898	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.E898E(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGTGGACATTCACACATGT	0.527			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - coding silent(1)	ovary(1)	1											142	120	128					1																	120491095		2203	4300	6503	120292618	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2694A>G	1.37:g.120491095T>C		1504	120292618	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.527	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120491095	T	C	120491095	2	2	203	1	0	0	0	0	0	0	0	1	10548	1490	52	4		4	NOTCH2	1	120491095	Silent	SNP	T	TCGA-24-0966-01A-01W-0977-09	49986413	120491095	128759526	2	11822											
KPRP	448834	genome.wustl.edu	37	1	152732092	152732092	+	Missense_Mutation	SNP	C	C	T	rs146340487		TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr1:152732092C>T	ENST00000606109.1	+	1	56	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	KPRP_ENST00000368773.1_Missense_Mutation_p.R10C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	10	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R10C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCAGTGCCGCCTGCCGCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	1						C	CYS/ARG	0,4406		0,0,2203	59	58	58		28	1.8	0.2	1	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense	KPRP	NM_001025231.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	10/580	152732092	1,13005	2203	4300	6503	150998716	SO:0001583	missense	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.28C>T	1.37:g.152732092C>T	ENSP00000475216:p.Arg10Cys		150998716		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	0.563	-0.844435	0.02671	0.0	1.16E-4	ENSG00000203786	ENST00000368773	T	0.10382	2.88	5.54	1.84	0.25277	.	0.577262	0.15899	N	0.239152	T	0.00440	0.0014	N	0.00246	-1.78	0.21719	N	0.999572	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.02654	T	1	-2.0206	2.5629	0.04776	0.143:0.0828:0.1654:0.6088	.	10	Q5T749	KPRP_HUMAN	C	10	ENSP00000357762:R10C	ENSP00000357762:R10C	R	+	1	0	KPRP	150998716	0.003000	0.15002	0.188000	0.23233	0.681000	0.39784	0.855000	0.27805	0.110000	0.17919	-0.294000	0.09567	CGC		0.592	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		T	152732092	C	T	152732092	3	4	203	1	0	0	0	0	1	0	0	0	8436	652	23	1	30	1	KPRP	1	152732092	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09	32240997	152732092	96518529	3	11823											
TP53BP2	7159	genome.wustl.edu	37	1	223980221	223980221	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr1:223980221C>G	ENST00000343537.7	-	15	3157	c.2866G>C	c.(2866-2868)Gat>Cat	p.D956H	TP53BP2_ENST00000391878.2_Missense_Mutation_p.D827H|TP53BP2_ENST00000391879.2_Missense_Mutation_p.D189H|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	950	Mediates interaction with APC2.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.D827H(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTTGGGTCATCAACCTATATC	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											81	78	79					1																	223980221		2203	4300	6503	222046844	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2866G>C	1.37:g.223980221C>G	ENSP00000341957:p.Asp956His		222046844	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006385	0.74932	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.65364	-0.15;-0.15;-0.15	5.31	5.31	0.75309	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.255536	0.45126	D	0.000394	T	0.73916	0.3648	L	0.55481	1.735	0.50813	D	0.999891	D;P	0.61080	0.989;0.864	P;P	0.59703	0.862;0.458	T	0.75657	-0.3242	10	0.66056	D	0.02	.	19.346	0.94362	0.0:1.0:0.0:0.0	.	956;950	B4DG66;Q13625	.;ASPP2_HUMAN	H	827;956;189	ENSP00000375750:D827H;ENSP00000341957:D956H;ENSP00000375751:D189H	ENSP00000341957:D956H	D	-	1	0	TP53BP2	222046844	1.000000	0.71417	0.978000	0.43139	0.963000	0.63663	4.830000	0.62745	2.646000	0.89796	0.467000	0.42956	GAT		0.473	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		G	223980221	C	G	223980221	3	3	203	1	0	0	0	0	1	0	0	0	16384	826	29	3	554	3	TP53BP2	1	223980221	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09	71248129	223980221	25270400	4	11824											
KIAA1486	57624	genome.wustl.edu	37	2	226273690	226273690	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr2:226273690G>A	ENST00000272907.6	+	2	507	c.94G>A	c.(94-96)Gat>Aat	p.D32N	NYAP2_ENST00000409269.2_Missense_Mutation_p.D32N	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	32					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.D32N(1)									GAAGGCCTATGATGGCTTGGT	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											147	132	137					2																	226273690		1900	4119	6019	225981934	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.94G>A	2.37:g.226273690G>A	ENSP00000272907:p.Asp32Asn		225981934	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047933	0.75846	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	T	0.41758	0.99	5.92	5.92	0.95590	.	0.133715	0.48767	D	0.000166	T	0.50973	0.1647	L	0.45698	1.435	0.42359	D	0.992407	P;P	0.51537	0.946;0.884	P;B	0.50270	0.636;0.203	T	0.46456	-0.9190	10	0.52906	T	0.07	-24.6172	20.3167	0.98654	0.0:0.0:1.0:0.0	.	32;32	Q9P242-2;Q9P242	.;K1486_HUMAN	N	32	ENSP00000272907:D32N	ENSP00000272907:D32N	D	+	1	0	KIAA1486	225981934	1.000000	0.71417	0.958000	0.39756	0.890000	0.51754	4.678000	0.61641	2.809000	0.96659	0.557000	0.71058	GAT		0.403	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		A	226273690	G	A	226273690	3	1	203	1	0	0	0	0	1	0	0	0	8237	1290	45	2	96	2	KIAA1486	2	226273690	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09		226273690	16925683	5	11825											
ARPP21	10777	genome.wustl.edu	37	3	35770914	35770914	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr3:35770914C>T	ENST00000187397.4	+	15	1801	c.1345C>T	c.(1345-1347)Cca>Tca	p.P449S	ARPP21_ENST00000337271.5_Missense_Mutation_p.P395S|ARPP21_ENST00000444190.1_Missense_Mutation_p.P395S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P415S|ARPP21_ENST00000458225.1_Missense_Mutation_p.P415S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	449					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.P449S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGTGCCTTATCCAGAGAATGG	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											63	60	61					3																	35770914		2203	4300	6503	35745918	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1345C>T	3.37:g.35770914C>T	ENSP00000187397:p.Pro449Ser		35745918	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.912|7.912	0.736665|0.736665	0.15574|0.15574	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925|ENST00000425289	T;T;T;T;T|.	0.21543|.	2.0;2.0;2.0;2.06;2.0|.	6.06|6.06	-2.16|-2.16	0.07080|0.07080	.|.	0.522569|.	0.22241|.	N|.	0.062691|.	T|T	0.17365|0.17365	0.0417|0.0417	N|N	0.17345|0.17345	0.48|0.48	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B|.	0.06786|.	0.0;0.0;0.001|.	B;B;B|.	0.09377|.	0.002;0.001;0.004|.	T|T	0.26643|0.26643	-1.0097|-1.0097	10|5	0.12103|.	T|.	0.63|.	-0.0985|-0.0985	2.715|2.715	0.05185|0.05185	0.1907:0.2608:0.3748:0.1737|0.1907:0.2608:0.3748:0.1737	.|.	415;449;395|.	Q9UBL0-3;Q9UBL0;Q9UBL0-4|.	.;ARP21_HUMAN;.|.	S|F	415;395;395;449;415|221	ENSP00000414351:P415S;ENSP00000337792:P395S;ENSP00000405276:P395S;ENSP00000187397:P449S;ENSP00000412326:P415S|.	ENSP00000187397:P449S|.	P|S	+|+	1|2	0|0	ARPP21|ARPP21	35745918|35745918	0.000000|0.000000	0.05858|0.05858	0.154000|0.154000	0.22540|0.22540	0.987000|0.987000	0.75469|0.75469	-0.648000|-0.648000	0.05391|0.05391	-0.124000|-0.124000	0.11724|0.11724	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.597	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		T	35770914	C	T	35770914	3	4	203	1	0	0	0	0	1	0	0	0	978	855	30	2	1408	2	ARPP21	3	35770914	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09		35770914	162251516	6	11826											
N4BP2	55728	genome.wustl.edu	37	4	40124773	40124773	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr4:40124773G>A	ENST00000261435.6	+	10	4641	c.4225G>A	c.(4225-4227)Gtt>Att	p.V1409I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1409					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.V1409I(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGATTGTGTGGTTCATATAGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	4											133	135	135					4																	40124773		2203	4300	6503	39801168	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4225G>A	4.37:g.40124773G>A	ENSP00000261435:p.Val1409Ile		39801168	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.827162|4.827162	0.90955|0.90955	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.46451	.|0.87	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.068037	.|0.56097	.|D	.|0.000024	T|T	0.63010|0.63010	0.2475|0.2475	L|L	0.60455|0.60455	1.87|1.87	0.51767|0.51767	D|D	0.999933|0.999933	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.83275	.|0.996;0.991	T|T	0.62369|0.62369	-0.6869|-0.6869	5|10	.|0.49607	.|T	.|0.09	-16.0302|-16.0302	19.0678|19.0678	0.93119|0.93119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1409;1409	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	D|I	1055|1409;1329	.|ENSP00000261435:V1409I	.|ENSP00000261435:V1409I	G|V	+|+	2|1	0|0	N4BP2|N4BP2	39801168|39801168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	8.444000|8.444000	0.90323|0.90323	2.494000|2.494000	0.84150|0.84150	0.591000|0.591000	0.81541|0.81541	GGT|GTT		0.373	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		A	40124773	G	A	40124773	3	1	203	1	0	0	0	0	1	0	0	0	10110	1261	44	2	4255	2	N4BP2	4	40124773	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09		40124773	151029503	7	11827											
KIAA1919	91749	genome.wustl.edu	37	6	111587449	111587449	+	Silent	SNP	C	C	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr6:111587449C>T	ENST00000368847.4	+	4	1037	c.684C>T	c.(682-684)aaC>aaT	p.N228N		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	228					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.N228N(1)		large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AATATCACAACGCCCTTCTTT	0.368																																																1	Substitution - coding silent(1)	ovary(1)	6											108	98	101					6																	111587449		2203	4300	6503	111694142	SO:0001819	synonymous_variant	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.684C>T	6.37:g.111587449C>T			111694142	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP	ENST00000368847.4	37	CCDS5090.1																																																																																				0.368	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		T	111587449	C	T	111587449	2	4	203	1	0	0	0	0	0	0	0	1	8262	535	19	1		1	KIAA1919	6	111587449	Silent	SNP	C	TCGA-24-0966-01A-01W-0977-09		111587449	59527618	8	11828											
TWISTNB	221830	genome.wustl.edu	37	7	19738009	19738009	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr7:19738009C>G	ENST00000222567.5	-	4	1017	c.947G>C	c.(946-948)aGt>aCt	p.S316T		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	316	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.S316T(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGCCTCTTCACTGTGTTTTCT	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											99	109	105					7																	19738009		2202	4298	6500	19704534	SO:0001583	missense	221830			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.947G>C	7.37:g.19738009C>G	ENSP00000222567:p.Ser316Thr		19704534	A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	8.546	0.874341	0.17395	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.48	2.75	0.32379	.	0.881604	0.10433	N	0.675282	T	0.38268	0.1034	L	0.51422	1.61	0.21822	N	0.999522	B	0.23937	0.094	B	0.18871	0.023	T	0.30446	-0.9978	9	0.12766	T	0.61	-1.3556	8.9221	0.35619	0.0:0.7174:0.0:0.2826	.	316	Q3B726	RPA43_HUMAN	T	316	.	ENSP00000222567:S316T	S	-	2	0	TWISTNB	19704534	0.064000	0.20934	0.997000	0.53966	0.483000	0.33249	1.787000	0.38704	0.315000	0.23110	-1.212000	0.01626	AGT		0.373	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			G	19738009	C	G	19738009	3	3	203	1	0	0	0	0	1	0	0	0	16784	565	20	3	73	3	TWISTNB	7	19738009	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09		19738009	139400654	9	11829											
RELN	5649	genome.wustl.edu	37	7	103275980	103275980	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr7:103275980C>T	ENST00000428762.1	-	19	2516	c.2357G>A	c.(2356-2358)aGa>aAa	p.R786K	RELN_ENST00000343529.5_Missense_Mutation_p.R786K|RELN_ENST00000424685.2_Missense_Mutation_p.R786K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	786					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R786K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCAGGGGCTCTGCACGTGCT	0.393																																					NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - Missense(1)	ovary(1)	7											99	106	104					7																	103275980		2203	4300	6503	103063216	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2357G>A	7.37:g.103275980C>T	ENSP00000392423:p.Arg786Lys		103063216	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	5.876	0.345808	0.11126	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21031	2.03;2.03;2.03	6.08	-2.75	0.05914	.	0.515223	0.22959	N	0.053565	T	0.10208	0.0250	N	0.22421	0.69	0.22424	N	0.999113	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40421	-0.9564	10	0.02654	T	1	.	13.659	0.62354	0.0:0.1748:0.0:0.8252	.	786;786	P78509-2;P78509	.;RELN_HUMAN	K	786	ENSP00000392423:R786K;ENSP00000345694:R786K;ENSP00000388446:R786K	ENSP00000345694:R786K	R	-	2	0	RELN	103063216	0.992000	0.36948	0.956000	0.39512	0.992000	0.81027	0.334000	0.19787	-0.365000	0.08076	-0.218000	0.12543	AGA		0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103275980	C	T	103275980	3	4	203	1	0	0	0	0	1	0	0	0	13223	913	32	2	8213	2	RELN	7	103275980	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09	83537971	103275980	55862683	10	11830											
SLC26A4	5172	genome.wustl.edu	37	7	107342281	107342281	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr7:107342281A>G	ENST00000265715.3	+	17	2037	c.1813A>G	c.(1813-1815)Ata>Gta	p.I605V	SLC26A4_ENST00000541474.1_Missense_Mutation_p.I166V|SLC26A4_ENST00000544569.1_Missense_Mutation_p.I192V|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I174V|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	605	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.I605V(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GAATGGCATCATAAGTGATGC	0.343									Pendred syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											86	85	85					7																	107342281		2203	4300	6503	107129517	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1813A>G	7.37:g.107342281A>G	ENSP00000265715:p.Ile605Val		107129517	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	5.945	0.358421	0.11239	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94184	-3.08;-3.26;-3.35;-3.37	5.83	2.16	0.27623	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.236657	0.42964	N	0.000629	D	0.83663	0.5303	N	0.16903	0.455	0.30718	N	0.748509	B;B;B	0.14805	0.011;0.004;0.002	B;B;B	0.15484	0.008;0.006;0.013	T	0.70927	-0.4739	10	0.08381	T	0.77	.	9.8984	0.41334	0.804:0.0:0.196:0.0	.	166;192;605	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	V	605;166;192;174	ENSP00000265715:I605V;ENSP00000439743:I166V;ENSP00000437427:I192V;ENSP00000441209:I174V	ENSP00000265715:I605V	I	+	1	0	SLC26A4	107129517	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	0.940000	0.28992	0.471000	0.27319	-0.274000	0.10170	ATA		0.343	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		G	107342281	A	G	107342281	3	3	203	1	0	0	0	0	1	0	0	0	14522	217	8	4	1875	4	SLC26A4	7	107342281	Missense_Mutation	SNP	A	TCGA-24-0966-01A-01W-0977-09	4066301	107342281	51796382	11	11831											
C7orf66	154907	genome.wustl.edu	37	7	108524521	108524521	+	Silent	SNP	T	T	C			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr7:108524521T>C	ENST00000379007.2	-	1	123	c.69A>G	c.(67-69)agA>agG	p.R23R		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	23						integral component of membrane (GO:0016021)		p.R23R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GGCTCCAAAGTCTCTGATGAG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	7											153	129	137					7																	108524521		2203	4300	6503	108311757	SO:0001819	synonymous_variant	154907			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.69A>G	7.37:g.108524521T>C			108311757		Silent	SNP	ENST00000379007.2	37	CCDS34735.1																																																																																				0.383	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		C	108524521	T	C	108524521	2	2	203	1	0	0	0	0	0	0	0	1	2412	1664	58	4		4	C7orf66	7	108524521	Silent	SNP	T	TCGA-24-0966-01A-01W-0977-09	1182240	108524521	50614142	12	11832											
KCNK9	51305	genome.wustl.edu	37	8	140630965	140630965	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr8:140630965C>T	ENST00000520439.1	-	2	724	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.V221M	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	221					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.V221M(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CTAAAGGCCACGTAGAGCGGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	8											56	61	59					8																	140630965		2203	4300	6503	140700147	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.661G>A	8.37:g.140630965C>T	ENSP00000430676:p.Val221Met		140700147	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998266	0.74818	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.28895	1.59;1.59;1.59	5.7	5.7	0.88788	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49293	-0.8955	10	0.54805	T	0.06	.	18.8306	0.92137	0.0:1.0:0.0:0.0	.	221	Q9NPC2	KCNK9_HUMAN	M	221	ENSP00000429847:V221M;ENSP00000302166:V221M;ENSP00000430676:V221M	ENSP00000302166:V221M	V	-	1	0	KCNK9	140700147	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.917000	0.69989	2.673000	0.90976	0.655000	0.94253	GTG		0.557	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		T	140630965	C	T	140630965	3	4	203	1	0	0	0	0	1	0	0	0	8072	536	19	1	467	1	KCNK9	8	140630965	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09		140630965	5733057	13	11833											
TET1	80312	genome.wustl.edu	37	10	70446178	70446178	+	Missense_Mutation	SNP	T	T	A			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr10:70446178T>A	ENST00000373644.4	+	11	5327	c.5118T>A	c.(5116-5118)caT>caA	p.H1706Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1706					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.H1706Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCAGCTCCATGTGCTACCTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											78	75	76					10																	70446178		2203	4300	6503	70116184	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5118T>A	10.37:g.70446178T>A	ENSP00000362748:p.His1706Gln		70116184	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997510	0.74818	.	.	ENSG00000138336	ENST00000373644	T	0.14640	2.49	5.39	-3.69	0.04450	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	M	0.85373	2.75	0.33061	D	0.534054	D	0.54772	0.968	D	0.69142	0.962	T	0.49476	-0.8936	10	0.87932	D	0	.	12.6962	0.57005	0.0:0.4795:0.0:0.5205	.	1706	Q8NFU7	TET1_HUMAN	Q	1706	ENSP00000362748:H1706Q	ENSP00000362748:H1706Q	H	+	3	2	TET1	70116184	0.035000	0.19736	0.985000	0.45067	0.992000	0.81027	-0.733000	0.04898	-0.427000	0.07350	0.392000	0.25879	CAT		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		A	70446178	T	A	70446178	3	1	203	1	0	0	0	0	1	0	0	0	15769	1461	51	5	5156	5	TET1	10	70446178	Missense_Mutation	SNP	T	TCGA-24-0966-01A-01W-0977-09		70446178	65088569	14	11834											
CCDC73	493860	genome.wustl.edu	37	11	32636229	32636229	+	Silent	SNP	T	T	G			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr11:32636229T>G	ENST00000335185.5	-	16	1678	c.1635A>C	c.(1633-1635)atA>atC	p.I545I	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	545								p.I545I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCTGTTTCTATTGCTGTAT	0.294																																																1	Substitution - coding silent(1)	ovary(1)	11											133	118	123					11																	32636229		1810	4073	5883	32592805	SO:0001819	synonymous_variant	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1635A>C	11.37:g.32636229T>G			32592805	Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	CCDS41630.1																																																																																				0.294	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		G	32636229	T	G	32636229	2	3	203	1	0	0	0	0	0	0	0	1	2846	1512	53	5		5	CCDC73	11	32636229	Silent	SNP	T	TCGA-24-0966-01A-01W-0977-09		32636229	102370287	15	11835											
PLA2G16	11145	genome.wustl.edu	37	11	63357675	63357675	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr11:63357675C>T	ENST00000323646.5	-	3	638	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	PLA2G16_ENST00000415826.1_Missense_Mutation_p.R95Q|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	95					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)	p.R95Q(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5						CTCCTCCGCCCGCTGGATGAT	0.557																																																1	Substitution - Missense(1)	ovary(1)	11											119	100	107					11																	63357675		2201	4298	6499	63114251	SO:0001583	missense	11145			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"adipose-specific PLA2"	613867	"HRAS-like suppressor 3"	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.284G>A	11.37:g.63357675C>T	ENSP00000320337:p.Arg95Gln		63114251	B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Missense_Mutation	SNP	ENST00000323646.5	37	CCDS8047.1	.	.	.	.	.	.	.	.	.	.	C	4.682	0.126819	0.08931	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	T;T	0.27256	1.68;1.68	5.71	0.602	0.17535	NC (1);	0.625208	0.16964	N	0.192403	T	0.24353	0.0590	M	0.77313	2.365	0.24846	N	0.992432	B;B	0.31256	0.316;0.11	B;B	0.26614	0.071;0.029	T	0.16482	-1.0401	10	0.52906	T	0.07	-6.3765	5.2355	0.15445	0.1337:0.5695:0.0:0.2969	.	126;95	Q3MI98;P53816	.;PAG16_HUMAN	Q	95	ENSP00000320337:R95Q;ENSP00000389124:R95Q	ENSP00000320337:R95Q	R	-	2	0	PLA2G16	63114251	0.010000	0.17322	0.985000	0.45067	0.026000	0.11368	0.527000	0.22987	0.070000	0.16634	-0.196000	0.12772	CGG		0.557	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396632.1	NM_001128203		T	63357675	C	T	63357675	3	4	203	1	0	0	0	0	1	0	0	0	11993	652	23	1	212	1	PLA2G16	11	63357675	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09	30721446	63357675	71648841	16	11836											
APLP2	334	genome.wustl.edu	37	11	129979400	129979400	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr11:129979400T>C	ENST00000263574.5	+	2	254	c.182T>C	c.(181-183)aTg>aCg	p.M61T	APLP2_ENST00000278756.7_Missense_Mutation_p.M71T|APLP2_ENST00000345598.5_Missense_Mutation_p.M61T|APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000338167.5_Missense_Mutation_p.M61T|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000528499.1_Missense_Mutation_p.M61T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	61					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.M61T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AAGTTAAATATGCATGTGAAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	11											108	98	101					11																	129979400		2201	4297	6498	129484610	SO:0001583	missense	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.182T>C	11.37:g.129979400T>C	ENSP00000263574:p.Met61Thr		129484610	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489378	0.84962	.	.	ENSG00000084234	ENST00000530416;ENST00000533195;ENST00000533713;ENST00000528499;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756	D;D;D;D;D	0.94280	-3.39;-1.77;-3.35;-1.9;-1.9	6.17	6.17	0.99709	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.000000	0.85682	D	0.000000	D	0.96445	0.8840	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.62365	0.991;0.98;0.984;0.98;0.966	D;D;D;D;D	0.80764	0.994;0.953;0.946;0.953;0.935	D	0.96781	0.9575	10	0.87932	D	0	-35.499	16.0034	0.80327	0.0:0.0:0.0:1.0	.	61;61;61;61;61	Q06481;Q06481-2;Q06481-5;Q06481-4;Q06481-3	APLP2_HUMAN;.;.;.;.	T	8;86;46;61;61;61;61;71	ENSP00000435914:M61T;ENSP00000263574:M61T;ENSP00000263575:M61T;ENSP00000345444:M61T;ENSP00000278756:M71T	ENSP00000263574:M61T	M	+	2	0	APLP2	129484610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	ATG		0.443	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		C	129979400	T	C	129979400	3	2	203	1	0	0	0	0	1	0	0	0	779	1464	51	4	188	4	APLP2	11	129979400	Missense_Mutation	SNP	T	TCGA-24-0966-01A-01W-0977-09	66621725	129979400	5027116	17	11837											
RNF10	9921	genome.wustl.edu	37	12	120995221	120995221	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr12:120995221G>A	ENST00000325954.4	+	5	1243	c.782G>A	c.(781-783)aGt>aAt	p.S261N	RNF10_ENST00000413266.2_Missense_Mutation_p.S261N	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	261					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S261N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGACGTGGAGTAAATGTCCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	12											203	175	185					12																	120995221		2203	4300	6503	119479604	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.782G>A	12.37:g.120995221G>A	ENSP00000322242:p.Ser261Asn		119479604	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.29|14.29	2.491453|2.491453	0.44249|0.44249	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266|ENST00000542207;ENST00000541955	T;T|.	0.68181|.	-0.31;-0.31|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.087523|.	0.85682|.	D|.	0.000000|.	T|T	0.49847|0.49847	0.1581|0.1581	N|N	0.11427|0.11427	0.14|0.14	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.42447|0.42447	-0.9451|-0.9451	10|5	0.38643|.	T|.	0.18|.	.|.	20.2982|20.2982	0.98569|0.98569	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	261;261|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	N|I	261|59;54	ENSP00000322242:S261N;ENSP00000415682:S261N|.	ENSP00000322242:S261N|.	S|V	+|+	2|1	0|0	RNF10|RNF10	119479604|119479604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	7.334000|7.334000	0.79224|0.79224	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	AGT|GTA		0.468	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			A	120995221	G	A	120995221	3	1	203	1	0	0	0	0	1	0	0	0	13425	1029	36	2	800	2	RNF10	12	120995221	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09		120995221	12856674	18	11838											
NBEA	26960	genome.wustl.edu	37	13	35615294	35615294	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr13:35615294G>A	ENST00000400445.3	+	2	1053	c.519G>A	c.(517-519)atG>atA	p.M173I	NBEA_ENST00000540320.1_Missense_Mutation_p.M173I|NBEA_ENST00000379939.2_Missense_Mutation_p.M173I|NBEA_ENST00000310336.4_Missense_Mutation_p.M173I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	173					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.M173I(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGATGACATGATAGCAGGTA	0.343																																																1	Substitution - Missense(1)	ovary(1)	13											51	47	49					13																	35615294		1876	4111	5987	34513294	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.519G>A	13.37:g.35615294G>A	ENSP00000383295:p.Met173Ile		34513294	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680273	0.47886	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.43	5.43	0.79202	.	0.046970	0.85682	D	0.000000	T	0.42494	0.1205	L	0.41492	1.28	0.80722	D	1	B	0.21905	0.062	B	0.15870	0.014	T	0.17961	-1.0352	10	0.29301	T	0.29	.	19.2626	0.93974	0.0:0.0:1.0:0.0	.	173	Q5T321	.	I	173	ENSP00000440951:M173I;ENSP00000383295:M173I;ENSP00000369271:M173I;ENSP00000308534:M173I	ENSP00000308534:M173I	M	+	3	0	NBEA	34513294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.680000	0.74518	2.544000	0.85801	0.585000	0.79938	ATG		0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		A	35615294	G	A	35615294	3	1	203	1	0	0	0	0	1	0	0	0	10187	1290	45	2	525	2	NBEA	13	35615294	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09		35615294	79554584	19	11839											
DIAPH3	81624	genome.wustl.edu	37	13	60407279	60407279	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr13:60407279A>T	ENST00000400324.4	-	24	3209	c.2989T>A	c.(2989-2991)Ttt>Att	p.F997I	DIAPH3_ENST00000267215.4_Missense_Mutation_p.F997I|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.F951I|DIAPH3_ENST00000377908.2_Missense_Mutation_p.F986I|DIAPH3_ENST00000400319.1_Missense_Mutation_p.F927I|DIAPH3_ENST00000400330.1_Missense_Mutation_p.F997I	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	997	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F997I(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCAGTAAGAAAGTCTTCCACA	0.303																																																1	Substitution - Missense(1)	ovary(1)	13											140	127	131					13																	60407279		1839	4072	5911	59305280	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2989T>A	13.37:g.60407279A>T	ENSP00000383178:p.Phe997Ile		59305280	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.683258	0.68157	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	6.03	2.22	0.28083	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.110120	0.64402	D	0.000004	T	0.43612	0.1255	M	0.85299	2.745	0.41093	D	0.985611	D;P	0.76494	0.999;0.845	D;B	0.70487	0.969;0.29	T	0.43327	-0.9398	10	0.87932	D	0	.	6.9489	0.24534	0.7415:0.1267:0.1318:0.0	.	734;997	Q9NSV4-1;Q9NSV4	.;DIAP3_HUMAN	I	997;997;986;951;927;986;927;951;997;734;997	ENSP00000383178:F997I;ENSP00000383184:F997I;ENSP00000367141:F986I;ENSP00000383173:F927I;ENSP00000383174:F951I;ENSP00000267215:F997I	ENSP00000267214:F734I	F	-	1	0	DIAPH3	59305280	1.000000	0.71417	0.901000	0.35422	0.958000	0.62258	2.638000	0.46562	1.118000	0.41863	0.455000	0.32223	TTT		0.303	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60407279	A	T	60407279	3	4	203	1	0	0	0	0	1	0	0	0	4520	72	3	5	632	5	DIAPH3	13	60407279	Missense_Mutation	SNP	A	TCGA-24-0966-01A-01W-0977-09	24791985	60407279	54762599	20	11840											
HERC2	8924	genome.wustl.edu	37	15	28511071	28511071	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr15:28511071C>T	ENST00000261609.7	-	13	1756	c.1648G>A	c.(1648-1650)Ggg>Agg	p.G550R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G550R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGTGCTTCCCGGCCTGCTTT	0.592																																																1	Substitution - Missense(1)	ovary(1)	15											54	50	52					15																	28511071		2203	4300	6503	26184666	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1648G>A	15.37:g.28511071C>T	ENSP00000261609:p.Gly550Arg		26184666		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776214	0.90195	.	.	ENSG00000128731	ENST00000261609	T	0.45668	0.89	5.7	5.7	0.88788	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	L	0.28400	0.85	0.80722	D	1	P	0.44309	0.832	B	0.34138	0.176	T	0.16158	-1.0412	10	0.49607	T	0.09	.	20.263	0.98456	0.0:1.0:0.0:0.0	.	550	O95714	HERC2_HUMAN	R	550	ENSP00000261609:G550R	ENSP00000261609:G550R	G	-	1	0	HERC2	26184666	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.442000	0.80503	2.868000	0.98415	0.556000	0.70494	GGG		0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28511071	C	T	28511071	3	4	203	1	0	0	0	0	1	0	0	0	7058	652	23	1	13180	1	HERC2	15	28511071	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09		28511071	74020321	21	11841											
MYO5C	55930	genome.wustl.edu	37	15	52571812	52571812	+	Silent	SNP	G	G	A	rs371621193		TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr15:52571812G>A	ENST00000261839.7	-	3	359	c.198C>T	c.(196-198)ctC>ctT	p.L66L	MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	66						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L66L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCGCCCACGAGGATGTCAG	0.468																																																1	Substitution - coding silent(1)	ovary(1)	15						G		0,3772		0,0,1886	59	59	59		198	-9.8	0.9	15		59	1,8243		0,1,4121	no	coding-synonymous	MYO5C	NM_018728.3		0,1,6007	AA,AG,GG		0.0121,0.0,0.0083		66/1743	52571812	1,12015	1886	4122	6008	50359104	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.198C>T	15.37:g.52571812G>A			50359104	Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.468	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		A	52571812	G	A	52571812	2	1	203	1	0	0	0	0	0	0	0	1	10080	1045	37	1		1	MYO5C	15	52571812	Silent	SNP	G	TCGA-24-0966-01A-01W-0977-09	24060741	52571812	49959580	22	11842											
LRRK1	79705	genome.wustl.edu	37	15	101566320	101566320	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr15:101566320G>A	ENST00000388948.3	+	17	2742	c.2383G>A	c.(2383-2385)Gac>Aac	p.D795N	LRRK1_ENST00000284395.5_Missense_Mutation_p.D792N	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.D807N(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGCTTCCCAGACATCACCTT	0.587																																																1	Substitution - Missense(1)	ovary(1)	15											60	66	64					15																	101566320		2080	4214	6294	99383843	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2383G>A	15.37:g.101566320G>A	ENSP00000373600:p.Asp795Asn		99383843		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382814	0.61845	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.72615	-0.63;-0.67	4.71	4.71	0.59529	ROC GTPase (1);	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	N	0.26042	0.785	0.58432	D	0.999994	D	0.76494	0.999	D	0.75484	0.986	T	0.71781	-0.4489	10	0.22109	T	0.4	.	17.6842	0.88252	0.0:0.0:1.0:0.0	.	795	Q38SD2	LRRK1_HUMAN	N	795;792	ENSP00000373600:D795N;ENSP00000284395:D792N	ENSP00000284395:D792N	D	+	1	0	LRRK1	99383843	1.000000	0.71417	0.938000	0.37757	0.054000	0.15201	7.505000	0.81655	2.158000	0.67659	0.462000	0.41574	GAC		0.587	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101566320	G	A	101566320	3	1	203	1	0	0	0	0	1	0	0	0	9032	942	33	2	2445	2	LRRK1	15	101566320	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09	48994508	101566320	965072	23	11843											
CREBBP	1387	genome.wustl.edu	37	16	3790520	3790520	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr16:3790520A>G	ENST00000262367.5	-	24	4822	c.4013T>C	c.(4012-4014)tTg>tCg	p.L1338S	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1300S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1338	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L1338S(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGGTCTTCCAAGTGGTTTCC	0.552			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	ovary(1)	16											65	68	67					16																	3790520		2197	4300	6497	3730521	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4013T>C	16.37:g.3790520A>G	ENSP00000262367:p.Leu1338Ser		3730521	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	19.22	3.785827	0.70337	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.87571	-2.27;-2.19	5.05	5.05	0.67936	.	0.105342	0.40554	N	0.001078	D	0.91952	0.7451	M	0.81341	2.54	0.47778	D	0.999518	D;D	0.67145	0.996;0.996	P;P	0.56823	0.807;0.807	D	0.93222	0.6609	10	0.87932	D	0	-9.8303	15.1052	0.72315	1.0:0.0:0.0:0.0	.	1368;1338	Q4LE28;Q92793	.;CBP_HUMAN	S	1338;1368;1300	ENSP00000262367:L1338S;ENSP00000371502:L1300S	ENSP00000262367:L1338S	L	-	2	0	CREBBP	3730521	1.000000	0.71417	0.818000	0.32626	0.982000	0.71751	9.210000	0.95106	2.026000	0.59711	0.454000	0.30748	TTG		0.552	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		G	3790520	A	G	3790520	3	3	203	1	0	0	0	0	1	0	0	0	3861	131	5	4	3347	4	CREBBP	16	3790520	Missense_Mutation	SNP	A	TCGA-24-0966-01A-01W-0977-09		3790520	86564233	24	11844											
GPS2	2874	genome.wustl.edu	37	17	7216733	7216746	+	Frame_Shift_Del	DEL	ATAGGGCTGTGGCT	ATAGGGCTGTGGCT	-	rs11541830		TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	ATAGGGCTGTGGCT	ATAGGGCTGTGGCT	ATAGGGCTGTGGCT	-	ATAGGGCTGTGGCT	ATAGGGCTGTGGCT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr17:7216733_7216746delATAGGGCTGTGGCT	ENST00000380728.2	-	8	977_990	c.677_690delAGCCACAGCCCTAT	c.(676-690)cagccacagccctatfs	p.QPQPY226fs	GPS2_ENST00000389167.5_Frame_Shift_Del_p.QPQPY226fs|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Frame_Shift_Del_p.QPQPY226fs			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	226					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)	p.Q226fs*30(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CATGCACAGCATAGGGCTGTGGCTGTGGCTGAGA	0.505											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	ovary(1)	17																																								7157470	SO:0001589	frameshift_variant	2874			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.677_690delAGCCACAGCCCTAT	17.37:g.7216733_7216746delATAGGGCTGTGGCT	ENSP00000370104:p.Gln226fs	640	7157457	B4DXA1|Q6FHM8	Frame_Shift_Del	DEL	ENST00000380728.2	37	CCDS11100.1																																																																																				0.505	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		-	7216746	ATAGGGCTGTGGCT	-	7216733	7	5	203	1	0	1	0	1	0	0	0	0	6733	224	8	0	309	0	GPS2	17	7216733	Frame_Shift_Del	DEL	ATAGGGCTGTGGCT	TCGA-24-0966-01A-01W-0977-09		7216733	73978477	25	11845											
TP53	7157	genome.wustl.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656|rs397516437		TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	17	GRCh37	CM010464|CM900209	TP53	M	rs121912656						151	113	126					17																	7577547		2203	4300	6503	7518272	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.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val		7518272	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577547	C	A	7577547	3	1	203	1	0	0	0	0	1	0	0	0	16381	739	26	3	556	3	TP53	17	7577547	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09	360814	7577547	73617663	26	11846											
ZNF236	7776	genome.wustl.edu	37	18	74671772	74671772	+	Splice_Site	SNP	G	G	A			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr18:74671772G>A	ENST00000253159.8	+	29	5434	c.5236G>A	c.(5236-5238)Ggg>Agg	p.G1746R	ZNF236_ENST00000320610.9_Splice_Site_p.G1748R	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1746					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1746R(1)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CATACATACAGGTAACGGGGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	18											68	73	71					18																	74671772		2010	4178	6188	72800760	SO:0001630	splice_region_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5236+1G>A	18.37:g.74671772G>A			72800760	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349332	0.41599	.	.	ENSG00000130856	ENST00000253159	T	0.26223	1.75	4.8	4.8	0.61643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	L	0.42487	1.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45934	-0.9227	10	0.87932	D	0	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	1746	Q9UL36	ZN236_HUMAN	R	1746	ENSP00000253159:G1746R	ENSP00000253159:G1746R	G	+	1	0	ZNF236	72800760	1.000000	0.71417	0.994000	0.49952	0.538000	0.34931	9.129000	0.94430	2.226000	0.72624	0.561000	0.74099	GGG		0.468	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		Missense_Mutation	A	74671772	G	A	74671772	5	1	203	1	0	0	0	0	0	0	1	0	17789	1014	35	2	5350	2	ZNF236	18	74671772	Splice_Site	SNP	G	TCGA-24-0966-01A-01W-0977-09		74671772	3405476	27	11847											
ADNP2	22850	genome.wustl.edu	37	18	77895899	77895899	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr18:77895899G>T	ENST00000262198.4	+	4	3058	c.2603G>T	c.(2602-2604)gGg>gTg	p.G868V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	868					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G868V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGCACCCCCGGGAGCACCGGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	18											57	59	59					18																	77895899		2203	4300	6503	75996890	SO:0001583	missense	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2603G>T	18.37:g.77895899G>T	ENSP00000262198:p.Gly868Val		75996890	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710634	0.00712	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.04	3.05	0.35203	.	1.385650	0.04465	N	0.374961	T	0.32285	0.0824	L	0.36672	1.1	0.09310	N	0.999999	B	0.29037	0.231	B	0.25405	0.06	T	0.21211	-1.0252	8	.	.	.	-2.0231	4.4567	0.11647	0.3036:0.1716:0.5248:0.0	.	868	Q6IQ32	ADNP2_HUMAN	V	868	.	.	G	+	2	0	ADNP2	75996890	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	-0.194000	0.09559	0.532000	0.28657	0.655000	0.94253	GGG		0.587	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		T	77895899	G	T	77895899	3	4	203	1	0	0	0	0	1	0	0	0	324	1232	43	3	2613	3	ADNP2	18	77895899	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09	3224127	77895899	181349	28	11848											
CHERP	10523	genome.wustl.edu	37	19	16638986	16638986	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr19:16638986C>T	ENST00000198939.6	-	9	1279	c.1243G>A	c.(1243-1245)Ggc>Agc	p.G415S	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'Flank|CHERP_ENST00000546361.2_Missense_Mutation_p.G404S					calcium homeostasis endoplasmic reticulum protein									p.G404S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ccccgggggccggcAGCTGCA	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											44	53	50					19																	16638986		1866	4076	5942	16499986	SO:0001583	missense	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1243G>A	19.37:g.16638986C>T	ENSP00000198939:p.Gly415Ser		16499986		Missense_Mutation	SNP	ENST00000198939.6	37		.	.	.	.	.	.	.	.	.	.	C	14.11	2.438047	0.43326	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.23147	1.92;1.92	5.02	5.02	0.67125	.	.	.	.	.	T	0.24236	0.0587	L	0.29908	0.895	0.51767	D	0.999936	D	0.67145	0.996	P	0.45343	0.477	T	0.01652	-1.1303	9	0.31617	T	0.26	-20.0749	17.3571	0.87340	0.0:1.0:0.0:0.0	.	404	Q8IWX8	CHERP_HUMAN	S	404;415	ENSP00000439856:G404S;ENSP00000198939:G415S	ENSP00000198939:G415S	G	-	1	0	CHERP	16499986	0.999000	0.42202	0.806000	0.32338	0.234000	0.25298	5.523000	0.67099	2.342000	0.79632	0.561000	0.74099	GGC		0.627	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		T	16638986	C	T	16638986	3	4	203	1	0	0	0	0	1	0	0	0	3336	652	23	1	1576	1	CHERP	19	16638986	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09		16638986	42489997	29	11849											
CBLN4	140689	genome.wustl.edu	37	20	54573714	54573714	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr20:54573714G>T	ENST00000064571.2	-	3	1805	c.505C>A	c.(505-507)Cta>Ata	p.L169I		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	169	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.L169I(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TCTTTATCTAGGTAGAGCAGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	20											106	97	100					20																	54573714		2203	4300	6503	54007121	SO:0001583	missense	140689			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.505C>A	20.37:g.54573714G>T	ENSP00000064571:p.Leu169Ile		54007121	A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613096	0.28712	.	.	ENSG00000054803	ENST00000064571	D	0.92397	-3.03	5.48	3.53	0.40419	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.93959	0.8066	M	0.92459	3.31	0.53005	D	0.99996	P	0.36837	0.571	B	0.42163	0.378	D	0.91837	0.5480	10	0.87932	D	0	-10.3883	9.6932	0.40141	0.1321:0.0:0.7509:0.117	.	169	Q9NTU7	CBLN4_HUMAN	I	169	ENSP00000064571:L169I	ENSP00000064571:L169I	L	-	1	2	CBLN4	54007121	1.000000	0.71417	0.545000	0.28153	0.690000	0.40134	1.379000	0.34340	0.292000	0.22492	-1.579000	0.00862	CTA		0.438	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		T	54573714	G	T	54573714	3	4	203	1	0	0	0	0	1	0	0	0	2707	991	35	3	104	3	CBLN4	20	54573714	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09		54573714	8451806	30	11850											
LZTR1	8216	genome.wustl.edu	37	22	21340180	21340180	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chr22:21340180G>T	ENST00000215739.8	+	3	673	c.314G>T	c.(313-315)tGg>tTg	p.W105L	LZTR1_ENST00000389355.3_Intron|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	105					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W105L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GACTGCTCCTGGTGCAGGTGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	22											86	67	74					22																	21340180		2203	4300	6503	19670180	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.314G>T	22.37:g.21340180G>T	ENSP00000215739:p.Trp105Leu		19670180	Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075613	0.94000	.	.	ENSG00000099949	ENST00000539817;ENST00000215739	T	0.61627	0.09	4.52	4.52	0.55395	.	0.145322	0.53938	D	0.000057	D	0.83940	0.5363	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.991	D	0.89514	0.3773	10	0.87932	D	0	-23.9298	15.1436	0.72630	0.0:0.0:1.0:0.0	.	105;64	Q8N653;F5GXU8	LZTR1_HUMAN;.	L	64;105	ENSP00000215739:W105L	ENSP00000215739:W105L	W	+	2	0	LZTR1	19670180	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.398000	0.97281	2.516000	0.84829	0.643000	0.83706	TGG		0.582	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		T	21340180	G	T	21340180	3	4	203	1	0	0	0	0	1	0	0	0	9137	1357	47	3	324	3	LZTR1	22	21340180	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09		21340180	29964386	31	11851											
CASK	8573	genome.wustl.edu	37	X	41530717	41530717	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chrX:41530717C>G	ENST00000378163.1	-	6	970	c.496G>C	c.(496-498)Gct>Cct	p.A166P	CASK_ENST00000378158.1_Missense_Mutation_p.A166P|CASK_ENST00000421587.2_Missense_Mutation_p.A166P|CASK_ENST00000318588.9_Missense_Mutation_p.A166P|CASK_ENST00000378154.1_Missense_Mutation_p.A166P|CASK_ENST00000361962.4_Missense_Mutation_p.A166P|CASK_ENST00000442742.2_Missense_Mutation_p.A166P|CASK_ENST00000378166.4_Missense_Mutation_p.A166P			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.A166P(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AATTGAATAGCTACCCCAAAG	0.403																																					NSCLC(42;104 1086 3090 27189 35040)											1	Substitution - Missense(1)	ovary(1)	X											74	70	71					X																	41530717		2203	4300	6503	41415661	SO:0001583	missense	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.496G>C	X.37:g.41530717C>G	ENSP00000367405:p.Ala166Pro		41415661	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	C	30	5.053791	0.93793	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.61	5.61	0.85477	.	0.000000	0.48767	D	0.000163	D	0.90810	0.7114	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.97110	0.998;0.961;1.0	D	0.93437	0.6790	10	0.87932	D	0	.	18.6393	0.91389	0.0:1.0:0.0:0.0	.	166;166;166	O14936-3;O14936-4;O14936-2	.;.;.	P	166	ENSP00000400526:A166P;ENSP00000322727:A166P;ENSP00000354641:A166P;ENSP00000367405:A166P;ENSP00000367400:A166P;ENSP00000367408:A166P;ENSP00000398007:A166P;ENSP00000367396:A166P	ENSP00000322727:A166P	A	-	1	0	CASK	41415661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.345000	0.79718	0.600000	0.82982	GCT		0.403	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		G	41530717	C	G	41530717	3	3	203	1	0	0	0	0	1	0	0	0	2665	797	28	3	2372	3	CASK	23	41530717	Missense_Mutation	SNP	C	TCGA-24-0966-01A-01W-0977-09		41530717	113739843	32	11852											
ASB12	142689	genome.wustl.edu	37	X	63445259	63445259	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chrX:63445259A>T	ENST00000396130.2	-	1	244	c.245T>A	c.(244-246)gTc>gAc	p.V82D	MTMR8_ENST00000453546.1_Missense_Mutation_p.V466D|ASB12_ENST00000362002.2_Missense_Mutation_p.V91D			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	82					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.V82D(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GGCTAAGAGGACTTGCAAACA	0.532																																																3	Whole gene deletion(2)|Substitution - Missense(1)	ovary(2)|large_intestine(1)	X											78	50	60					X																	63445259		2203	4300	6503	63361984	SO:0001583	missense	142689			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.245T>A	X.37:g.63445259A>T	ENSP00000379435:p.Val82Asp		63361984	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37		.	.	.	.	.	.	.	.	.	.	A	13.36	2.213324	0.39102	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.65178	-0.14;-0.14;-0.14	3.56	3.56	0.40772	Ankyrin repeat-containing domain (4);	0.151264	0.44902	D	0.000403	T	0.67692	0.2920	L	0.41573	1.285	0.37735	D	0.92541	D;D	0.65815	0.995;0.995	D;P	0.65987	0.94;0.892	T	0.72928	-0.4143	10	0.72032	D	0.01	-22.6095	10.6129	0.45432	1.0:0.0:0.0:0.0	.	466;82	B4DQL0;Q8WXK4	.;ASB12_HUMAN	D	91;82;91;466	ENSP00000355195:V91D;ENSP00000379435:V82D;ENSP00000394003:V466D	ENSP00000354626:V91D	V	-	2	0	ASB12;MTMR8	63361984	0.990000	0.36364	0.846000	0.33378	0.157000	0.22087	6.605000	0.74155	1.436000	0.47453	0.430000	0.28490	GTC		0.532	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	63445259	A	T	63445259	3	4	203	1	0	0	0	0	1	0	0	0	1016	275	10	5	692	5	ASB12	23	63445259	Missense_Mutation	SNP	A	TCGA-24-0966-01A-01W-0977-09	21914542	63445259	91825301	33	11853											
ODZ1	10178	genome.wustl.edu	37	X	123518182	123518182	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chrX:123518182G>C	ENST00000371130.3	-	29	6641	c.6578C>G	c.(6577-6579)cCt>cGt	p.P2193R	TENM1_ENST00000422452.2_Missense_Mutation_p.P2200R|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2193					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P2195R(1)									ATATCGGAGAGGAGTAAGACG	0.428																																																1	Substitution - Missense(1)	ovary(1)	X											126	117	120					X																	123518182		2203	4300	6503	123345863	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6578C>G	X.37:g.123518182G>C	ENSP00000360171:p.Pro2193Arg		123345863	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743635	0.69418	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86230	-2.09;-2.05	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.928;0.965	D	0.92961	0.6389	10	0.87932	D	0	.	18.4768	0.90795	0.0:0.0:1.0:0.0	.	2199;2200;2193	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	2193;2200	ENSP00000360171:P2193R;ENSP00000403954:P2200R	ENSP00000360171:P2193R	P	-	2	0	ODZ1	123345863	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.304000	0.77564	0.544000	0.68410	CCT		0.428	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		C	123518182	G	C	123518182	3	2	203	1	0	0	0	0	1	0	0	0	10834	1000	35	3	1611	3	ODZ1	23	123518182	Missense_Mutation	SNP	G	TCGA-24-0966-01A-01W-0977-09	60072923	123518182	31752378	34	11854											
FGF13	2258	genome.wustl.edu	37	X	137715074	137715074	+	Silent	SNP	C	C	T			TCGA-24-0966-01A-01W-0977-09	TCGA-24-0966-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	dc069342-661a-4012-9bda-0c67469e117d	08f810ef-47cc-474c-b042-7994e73c2ddd	g.chrX:137715074C>T	ENST00000315930.6	-	5	1336	c.675G>A	c.(673-675)aaG>aaA	p.K225K	FGF13_ENST00000305414.4_Silent_p.K172K|FGF13_ENST00000370603.3_Silent_p.K235K|FGF13_ENST00000441825.2_Silent_p.K206K|FGF13_ENST00000541469.1_Silent_p.K179K	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	225					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.K225K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CACTTCTGCTCTTGGTTGGGG	0.517																																																1	Substitution - coding silent(1)	ovary(1)	X											189	146	161					X																	137715074		2203	4300	6503	137542740	SO:0001819	synonymous_variant	2258			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.675G>A	X.37:g.137715074C>T			137542740	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000315930.6	37	CCDS14665.1																																																																																				0.517	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		T	137715074	C	T	137715074	2	4	203	1	0	0	0	0	0	0	0	1	5842	912	32	2		2	FGF13	23	137715074	Silent	SNP	C	TCGA-24-0966-01A-01W-0977-09	14196892	137715074	17555486	35	11855											
FAM179A	165186	hgsc.bcm.edu	37	2	29249830	29249830	+	Silent	SNP	G	G	A			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr2:29249830G>A	ENST00000379558.4	+	14	2316	c.1965G>A	c.(1963-1965)ttG>ttA	p.L655L	FAM179A_ENST00000403861.2_Silent_p.L600L|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	655								p.L655L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGACATGTTGGTGCACAACC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	2											23	25	24					2																	29249830		1970	4150	6120	29103334	SO:0001819	synonymous_variant	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1965G>A	2.37:g.29249830G>A			29103334	Q6ZUF5	Silent	SNP	ENST00000379558.4	37	CCDS1769.2																																																																																				0.627	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		A	29249830	G	A	29249830	2	1	204	1	0	0	0	0	0	0	0	1	5505	1339	47	2		2	FAM179A	2	29249830	Silent	SNP	G	TCGA-24-0968-01A-01W-0484-10		29249830	213949543	1	11856											
SFXN5	94097	hgsc.bcm.edu	37	2	73285719	73285719	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr2:73285719A>G	ENST00000272433.2	-	2	239	c.109T>C	c.(109-111)Ttc>Ctc	p.F37L	SFXN5_ENST00000410065.1_Missense_Mutation_p.F37L|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	37					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)	p.F37L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CGGCCATAGAAGGACGTCTGA	0.537																																																1	Substitution - Missense(1)	ovary(1)	2											120	103	109					2																	73285719		2203	4300	6503	73139227	SO:0001583	missense	94097			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.109T>C	2.37:g.73285719A>G	ENSP00000272433:p.Phe37Leu		73139227	A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	ENST00000272433.2	37	CCDS1922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.03|18.03	3.531893|3.531893	0.64972|0.64972	.|.	.|.	ENSG00000144040|ENSG00000144040	ENST00000272433;ENST00000410065;ENST00000442582|ENST00000411783	T;T;T|.	0.40476|.	1.03;1.03;1.03|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80523|0.80523	0.4639|0.4639	M|M	0.92317|0.92317	3.295|3.295	0.58432|0.58432	D|D	0.999996|0.999996	D;D|.	0.64830|.	0.994;0.984|.	D;P|.	0.63283|.	0.913;0.885|.	D|D	0.84493|0.84493	0.0612|0.0612	10|5	0.87932|.	D|.	0|.	-23.3665|-23.3665	10.8617|10.8617	0.46831|0.46831	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	37;37|.	B8ZZJ6;Q8TD22|.	.;SFXN5_HUMAN|.	L|P	37|26	ENSP00000272433:F37L;ENSP00000387076:F37L;ENSP00000396825:F37L|.	ENSP00000272433:F37L|.	F|L	-|-	1|2	0|0	SFXN5|SFXN5	73139227|73139227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	6.101000|6.101000	0.71479|0.71479	1.887000|1.887000	0.54652|0.54652	0.379000|0.379000	0.24179|0.24179	TTC|CTT		0.537	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579		G	73285719	A	G	73285719	3	3	204	1	0	0	0	0	1	0	0	0	14201	72	3	4	965	4	SFXN5	2	73285719	Missense_Mutation	SNP	A	TCGA-24-0968-01A-01W-0484-10	44035889	73285719	169913654	2	11857											
THAP4	51078	hgsc.bcm.edu	37	2	242545728	242545728	+	Splice_Site	SNP	C	C	T			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr2:242545728C>T	ENST00000407315.1	-	3	1832		c.e3+1		THAP4_ENST00000402545.1_Splice_Site|THAP4_ENST00000402136.1_Splice_Site	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4								DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGACAACTTACGAGAAGTTCA	0.577																																																1	Unknown(1)	ovary(1)	2											67	46	53					2																	242545728		2169	4270	6439	242194401	SO:0001630	splice_region_variant	51078			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1400+1G>A	2.37:g.242545728C>T			242194401	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Splice_Site	SNP	ENST00000407315.1	37	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099307	0.76983	.	.	ENSG00000176946	ENST00000402136;ENST00000407315;ENST00000402545;ENST00000512346	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1506	0.89672	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THAP4	242194401	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.730000	0.74780	2.284000	0.76573	0.655000	0.94253	.		0.577	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963	Intron	T	242545728	C	T	242545728	5	4	204	1	0	0	0	0	0	0	1	0	15846	550	19	1	348	1	THAP4	2	242545728	Splice_Site	SNP	C	TCGA-24-0968-01A-01W-0484-10	169260009	242545728	653645	3	11858											
LEPREL1	55214	hgsc.bcm.edu	37	3	189838044	189838044	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr3:189838044G>C	ENST00000319332.5	-	1	674	c.477C>G	c.(475-477)atC>atG	p.I159M	LEPREL1_ENST00000427335.2_Intron|LEPREL1-AS1_ENST00000412203.1_RNA	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	159					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.I159M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGTACCTTGATGTAGGCCC	0.652																																																1	Substitution - Missense(1)	ovary(1)	3											25	20	22					3																	189838044		2202	4299	6501	191320738	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.477C>G	3.37:g.189838044G>C	ENSP00000316881:p.Ile159Met		191320738	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369484	0.42003	.	.	ENSG00000090530	ENST00000319332	T	0.63096	-0.02	5.5	3.63	0.41609	Tetratricopeptide-like helical (1);	0.487534	0.22221	N	0.062951	T	0.44244	0.1284	N	0.22421	0.69	0.80722	D	1	B	0.26935	0.164	B	0.28553	0.091	T	0.27806	-1.0063	9	.	.	.	-3.9598	8.9078	0.35535	0.0811:0.1491:0.7698:0.0	.	159	Q8IVL5	P3H2_HUMAN	M	159	ENSP00000316881:I159M	.	I	-	3	3	LEPREL1	191320738	0.993000	0.37304	1.000000	0.80357	0.954000	0.61252	0.912000	0.28597	1.517000	0.48917	0.655000	0.94253	ATC		0.652	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		C	189838044	G	C	189838044	3	2	204	1	0	0	0	0	1	0	0	0	8730	1280	45	3	1709	3	LEPREL1	3	189838044	Missense_Mutation	SNP	G	TCGA-24-0968-01A-01W-0484-10		189838044	8184386	4	11859											
EDNRA	1909	hgsc.bcm.edu	37	4	148406955	148406955	+	Missense_Mutation	SNP	G	G	A	rs188759418	byFrequency	TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr4:148406955G>A	ENST00000324300.5	+	2	637	c.122G>A	c.(121-123)cGt>cAt	p.R41H	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000506066.1_Missense_Mutation_p.R41H|EDNRA_ENST00000358556.4_Missense_Mutation_p.R41H|EDNRA_ENST00000339690.5_Missense_Mutation_p.R41H	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	41					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R41H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ACCACTTTTCGTGGCACAGAG	0.458													G|||	2	0.000399361	8e-04	0	5008	,	,		20050	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4											157	132	141					4																	148406955		2203	4300	6503	148626405	SO:0001583	missense	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.122G>A	4.37:g.148406955G>A	ENSP00000315011:p.Arg41His		148626405	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	CCDS3769.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.012	-1.652579	0.00785	.	.	ENSG00000151617	ENST00000358556;ENST00000339690;ENST00000394047;ENST00000324300;ENST00000506066	T;D;T;T	0.82081	0.36;-1.57;-0.84;0.36	5.96	-8.12	0.01078	.	1.356400	0.04488	N	0.379053	T	0.59569	0.2203	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.55224	-0.8174	10	0.35671	T	0.21	0.234	7.1544	0.25628	0.5417:0.1615:0.2318:0.0651	.	41;41;41	P25101-4;P25101-2;P25101	.;.;EDNRA_HUMAN	H	41	ENSP00000351359:R41H;ENSP00000341556:R41H;ENSP00000315011:R41H;ENSP00000425281:R41H	ENSP00000315011:R41H	R	+	2	0	EDNRA	148626405	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.997000	0.01470	-2.593000	0.00455	-1.945000	0.00491	CGT		0.458	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			A	148406955	G	A	148406955	3	1	204	1	0	0	0	0	1	0	0	0	4919	1145	40	1	124	1	EDNRA	4	148406955	Missense_Mutation	SNP	G	TCGA-24-0968-01A-01W-0484-10		148406955	42747321	5	11860											
TLR3	7098	hgsc.bcm.edu	37	4	187004245	187004245	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr4:187004245C>G	ENST00000296795.3	+	4	1509	c.1405C>G	c.(1405-1407)Ctg>Gtg	p.L469V	TLR3_ENST00000504367.1_Missense_Mutation_p.L192V	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	469					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L469V(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CAACAAGTACCTGCAGCTGAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	4											70	71	70					4																	187004245		2203	4300	6503	187241239	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1405C>G	4.37:g.187004245C>G	ENSP00000296795:p.Leu469Val		187241239	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.632043	0.00115	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.24350	1.86;1.86	5.57	0.507	0.16967	.	0.372655	0.27437	N	0.019379	T	0.06508	0.0167	N	0.03268	-0.37	0.09310	N	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.29792	-1.0000	10	0.02654	T	1	.	1.1198	0.01722	0.209:0.2387:0.3351:0.2173	.	469	O15455	TLR3_HUMAN	V	469;469;192	ENSP00000296795:L469V;ENSP00000423684:L192V	ENSP00000296795:L469V	L	+	1	2	TLR3	187241239	0.001000	0.12720	0.184000	0.23157	0.011000	0.07611	-0.073000	0.11468	0.033000	0.15463	-1.136000	0.01936	CTG		0.463	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			G	187004245	C	G	187004245	3	3	204	1	0	0	0	0	1	0	0	0	15952	680	24	3	1415	3	TLR3	4	187004245	Missense_Mutation	SNP	C	TCGA-24-0968-01A-01W-0484-10	38597290	187004245	4150031	6	11861											
AGGF1	55109	hgsc.bcm.edu	37	5	76349878	76349878	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr5:76349878G>T	ENST00000312916.7	+	10	1938	c.1556G>T	c.(1555-1557)gGc>gTc	p.G519V		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	519					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)	p.G519V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATTCATCCTGGCAGTGATACC	0.428																																																1	Substitution - Missense(1)	ovary(1)	5											140	136	137					5																	76349878		2203	4300	6503	76385634	SO:0001583	missense	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1556G>T	5.37:g.76349878G>T	ENSP00000316109:p.Gly519Val		76385634	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343704	0.82022	.	.	ENSG00000164252	ENST00000312916	T	0.52526	0.66	5.21	5.21	0.72293	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78633	-0.2128	10	0.87932	D	0	-14.9942	18.75	0.91810	0.0:0.0:1.0:0.0	.	519	Q8N302	AGGF1_HUMAN	V	519	ENSP00000316109:G519V	ENSP00000316109:G519V	G	+	2	0	AGGF1	76385634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.806000	0.86020	2.427000	0.82271	0.462000	0.41574	GGC		0.428	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		T	76349878	G	T	76349878	3	4	204	1	0	0	0	0	1	0	0	0	382	1203	42	3	1594	3	AGGF1	5	76349878	Missense_Mutation	SNP	G	TCGA-24-0968-01A-01W-0484-10		76349878	104565382	7	11862											
DMXL1	1657	hgsc.bcm.edu	37	5	118576153	118576153	+	Silent	SNP	T	T	C			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr5:118576153T>C	ENST00000311085.8	+	41	8708	c.8628T>C	c.(8626-8628)aaT>aaC	p.N2876N	DMXL1_ENST00000539542.1_Silent_p.N2897N|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2876				N -> D (in Ref. 1; CAA06718). {ECO:0000305}.				p.N2876N(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CACCTGCCAATAGTTTAGTCC	0.294																																																1	Substitution - coding silent(1)	ovary(1)	5											85	95	92					5																	118576153		2201	4300	6501	118604052	SO:0001819	synonymous_variant	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8628T>C	5.37:g.118576153T>C			118604052		Silent	SNP	ENST00000311085.8	37	CCDS4125.1																																																																																				0.294	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		C	118576153	T	C	118576153	2	2	204	1	0	0	0	0	0	0	0	1	4594	1403	49	4		4	DMXL1	5	118576153	Silent	SNP	T	TCGA-24-0968-01A-01W-0484-10	42226275	118576153	62339107	8	11863											
MANEA	79694	hgsc.bcm.edu	37	6	96053996	96053996	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr6:96053996G>T	ENST00000358812.4	+	5	1238	c.1104G>T	c.(1102-1104)tgG>tgT	p.W368C		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	368	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.W368C(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCCGTCCATGGAACACGCAAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	6											101	109	106					6																	96053996		2203	4300	6503	96160717	SO:0001583	missense	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1104G>T	6.37:g.96053996G>T	ENSP00000351669:p.Trp368Cys		96160717	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119235	0.77323	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83192	-0.0083	9	0.49607	T	0.09	-5.9937	19.8676	0.96824	0.0:0.0:1.0:0.0	.	368	Q5SRI9	MANEA_HUMAN	C	368	.	ENSP00000351669:W368C	W	+	3	0	MANEA	96160717	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	TGG		0.418	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		T	96053996	G	T	96053996	3	4	204	1	0	0	0	0	1	0	0	0	9221	1183	41	3	1118	3	MANEA	6	96053996	Missense_Mutation	SNP	G	TCGA-24-0968-01A-01W-0484-10		96053996	75061071	9	11864											
BMPER	168667	hgsc.bcm.edu	37	7	33945266	33945266	+	Missense_Mutation	SNP	A	A	C			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr7:33945266A>C	ENST00000297161.2	+	2	415	c.41A>C	c.(40-42)tAc>tCc	p.Y14S	BMPER_ENST00000426693.1_Missense_Mutation_p.Y14S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	14					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.Y14S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTGAGCGTTACTGCCGCCGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	7											45	42	43					7																	33945266		2203	4300	6503	33911791	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.41A>C	7.37:g.33945266A>C	ENSP00000297161:p.Tyr14Ser		33911791	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	A	5.054	0.195670	0.09599	.	.	ENSG00000164619	ENST00000297161;ENST00000426693;ENST00000436222	T;T	0.17370	2.28;2.28	3.65	-1.07	0.09968	.	1.098360	0.07015	N	0.825796	T	0.07818	0.0196	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.41142	-0.9525	10	0.19590	T	0.45	.	6.8579	0.24050	0.4057:0.2376:0.3567:0.0	.	14	Q8N8U9	BMPER_HUMAN	S	14	ENSP00000297161:Y14S;ENSP00000393950:Y14S	ENSP00000297161:Y14S	Y	+	2	0	BMPER	33911791	0.035000	0.19736	0.601000	0.28877	0.416000	0.31233	0.077000	0.14738	-0.011000	0.14247	-0.294000	0.09567	TAC		0.647	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		C	33945266	A	C	33945266	3	2	204	1	0	0	0	0	1	0	0	0	1468	391	14	5	43	5	BMPER	7	33945266	Missense_Mutation	SNP	A	TCGA-24-0968-01A-01W-0484-10		33945266	125193397	10	11865											
C9orf30	91283	hgsc.bcm.edu	37	9	103212898	103212898	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr9:103212898C>A	ENST00000395067.2	+	3	749	c.478C>A	c.(478-480)Cca>Aca	p.P160T	TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3_ENST00000489377.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	160								p.P160T(1)		endometrium(2)|lung(2)	4						CATACATTTTCCAGTATGTGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											62	61	61					9																	103212898		2203	4300	6503	102252719	SO:0001583	missense	91283			BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 30"	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.478C>A	9.37:g.103212898C>A	ENSP00000378506:p.Pro160Thr		102252719	B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055504	0.36277	.	.	ENSG00000066697	ENST00000395067;ENST00000374886	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.45115	0.1326	N	0.22421	0.69	0.80722	D	1	B	0.18461	0.028	B	0.12156	0.007	T	0.39941	-0.9589	8	0.66056	D	0.02	-4.8398	13.4682	0.61268	0.1563:0.8437:0.0:0.0	.	160	Q96H12	CI030_HUMAN	T	160	.	ENSP00000364021:P160T	P	+	1	0	C9orf30	102252719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.377000	0.52425	2.604000	0.88044	0.467000	0.42956	CCA		0.393	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		A	103212898	C	A	103212898	3	1	204	1	0	0	0	0	1	0	0	0	2478	855	30	3	484	3	C9orf30	9	103212898	Missense_Mutation	SNP	C	TCGA-24-0968-01A-01W-0484-10		103212898	38000533	11	11866											
DHTKD1	55526	hgsc.bcm.edu	37	10	12148275	12148275	+	Missense_Mutation	SNP	G	G	A	rs371749570		TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr10:12148275G>A	ENST00000263035.4	+	11	1989	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	643					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.V643I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGAAGAGGCCGTCCTGGGATT	0.537																																																1	Substitution - Missense(1)	ovary(1)	10											143	125	131					10																	12148275		2203	4300	6503	12188281	SO:0001583	missense	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1927G>A	10.37:g.12148275G>A	ENSP00000263035:p.Val643Ile		12188281	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233773	0.95207	.	.	ENSG00000181192	ENST00000263035	D	0.91894	-2.93	6.01	6.01	0.97437	Transketolase-like, pyrimidine-binding domain (2);	0.057135	0.64402	D	0.000001	D	0.95239	0.8456	M	0.73753	2.245	0.80722	D	1	P	0.49696	0.927	P	0.57009	0.811	D	0.95145	0.8267	10	0.87932	D	0	-18.7584	18.764	0.91865	0.0:0.0:1.0:0.0	.	643	Q96HY7	DHTK1_HUMAN	I	643	ENSP00000263035:V643I	ENSP00000263035:V643I	V	+	1	0	DHTKD1	12188281	1.000000	0.71417	0.994000	0.49952	0.800000	0.45204	8.926000	0.92839	2.870000	0.98441	0.638000	0.83543	GTC		0.537	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		A	12148275	G	A	12148275	3	1	204	1	0	0	0	0	1	0	0	0	4500	1145	40	1	1969	1	DHTKD1	10	12148275	Missense_Mutation	SNP	G	TCGA-24-0968-01A-01W-0484-10		12148275	123386472	12	11867											
SSRP1	6749	hgsc.bcm.edu	37	11	57095244	57095244	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr11:57095244G>A	ENST00000278412.2	-	14	1990	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	575					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.T575M(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GGAAAGATCCGTGATGCTGAT	0.542																																					Colon(89;1000 1340 6884 23013 41819)											2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	11											171	169	170					11																	57095244		2201	4296	6497	56851820	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1724C>T	11.37:g.57095244G>A	ENSP00000278412:p.Thr575Met		56851820	Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976283	0.92982	.	.	ENSG00000149136	ENST00000278412	D	0.98164	-4.76	5.8	5.8	0.92144	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99777	1.1026	10	0.62326	D	0.03	.	19.6492	0.95794	0.0:0.0:1.0:0.0	.	575	Q08945	SSRP1_HUMAN	M	575	ENSP00000278412:T575M	ENSP00000278412:T575M	T	-	2	0	SSRP1	56851820	1.000000	0.71417	0.968000	0.41197	0.979000	0.70002	9.177000	0.94849	2.737000	0.93849	0.655000	0.94253	ACG		0.542	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		A	57095244	G	A	57095244	3	1	204	1	0	0	0	0	1	0	0	0	15196	1145	40	1	421	1	SSRP1	11	57095244	Missense_Mutation	SNP	G	TCGA-24-0968-01A-01W-0484-10		57095244	77911272	13	11868											
KDM2A	22992	hgsc.bcm.edu	37	11	67020275	67020275	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr11:67020275G>A	ENST00000529006.2	+	18	3325	c.2879G>A	c.(2878-2880)aGt>aAt	p.S960N	KDM2A_ENST00000530342.1_Missense_Mutation_p.S521N|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.S418N	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	960					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.S960N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTTGACCTCAGTTGGACCAAC	0.527											OREG0021121	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											73	73	73					11																	67020275		2004	4168	6172	66776851	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2879G>A	11.37:g.67020275G>A	ENSP00000432786:p.Ser960Asn	1096	66776851	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603035	0.87157	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.50813	0.73;0.73;0.73	5.44	5.44	0.79542	.	0.192173	0.56097	D	0.000021	T	0.75391	0.3843	M	0.90425	3.115	0.49582	D	0.999808	P;D;D	0.76494	0.866;0.999;0.981	P;D;D	0.80764	0.766;0.994;0.954	T	0.77593	-0.2530	10	0.46703	T	0.11	-13.1354	19.4432	0.94831	0.0:0.0:1.0:0.0	.	521;418;960	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	N	960;521;418	ENSP00000432786:S960N;ENSP00000435776:S521N;ENSP00000309302:S418N	ENSP00000309302:S418N	S	+	2	0	KDM2A	66776851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.152000	0.77419	2.833000	0.97629	0.650000	0.86243	AGT		0.527	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		A	67020275	G	A	67020275	3	1	204	1	0	0	0	0	1	0	0	0	8124	1029	36	2	2945	2	KDM2A	11	67020275	Missense_Mutation	SNP	G	TCGA-24-0968-01A-01W-0484-10	9925031	67020275	67986241	14	11869											
OPCML	4978	hgsc.bcm.edu	37	11	132306083	132306083	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr11:132306083C>T	ENST00000331898.7	-	6	1412	c.834G>A	c.(832-834)atG>atA	p.M278I	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.M271I|OPCML_ENST00000541867.1_Missense_Mutation_p.M278I|OPCML_ENST00000374778.4_Missense_Mutation_p.M237I	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	278	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.M278I(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCAGAGTGGACATGCGGCCTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											167	150	156					11																	132306083		2201	4297	6498	131811293	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.834G>A	11.37:g.132306083C>T	ENSP00000330862:p.Met278Ile		131811293	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791084	0.31685	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.91	-0.674	0.11369	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.309988	0.40302	N	0.001133	T	0.37892	0.1020	N	0.16743	0.435	0.30633	N	0.757327	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.19063	-1.0317	10	0.25751	T	0.34	-4.193	7.7963	0.29150	0.0:0.6243:0.1708:0.2049	.	278;271;277;278	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	I	278;271;237;245;278	ENSP00000330862:M278I;ENSP00000434750:M271I;ENSP00000363910:M237I;ENSP00000445496:M278I	ENSP00000330862:M278I	M	-	3	0	OPCML	131811293	0.995000	0.38212	0.997000	0.53966	0.996000	0.88848	0.385000	0.20685	-0.066000	0.12998	0.650000	0.86243	ATG		0.453	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		T	132306083	C	T	132306083	3	4	204	1	0	0	0	0	1	0	0	0	10874	478	17	2	211	2	OPCML	11	132306083	Missense_Mutation	SNP	C	TCGA-24-0968-01A-01W-0484-10	65285808	132306083	2700433	15	11870											
UHRF1BP1L	23074	hgsc.bcm.edu	37	12	100453251	100453251	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr12:100453251T>C	ENST00000279907.7	-	14	2016	c.1804A>G	c.(1804-1806)Att>Gtt	p.I602V	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I252V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	602								p.I602V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GAACTCTGAATAGAAATTGCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	12											41	44	43					12																	100453251		2202	4300	6502	98977382	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1804A>G	12.37:g.100453251T>C	ENSP00000279907:p.Ile602Val		98977382	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	4.834	0.155087	0.09236	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.10382	2.88;2.88	5.11	1.37	0.22104	.	0.299670	0.36374	N	0.002635	T	0.06142	0.0159	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.37056	-0.9722	10	0.24483	T	0.36	-8.9708	9.7647	0.40554	0.0:0.2107:0.0:0.7893	.	602	A0JNW5	UH1BL_HUMAN	V	602;252	ENSP00000279907:I602V;ENSP00000444824:I252V	ENSP00000279907:I602V	I	-	1	0	UHRF1BP1L	98977382	0.582000	0.26749	0.998000	0.56505	0.947000	0.59692	0.404000	0.20999	0.351000	0.24027	0.528000	0.53228	ATT		0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		C	100453251	T	C	100453251	3	2	204	1	0	0	0	0	1	0	0	0	16969	1406	49	4	2622	4	UHRF1BP1L	12	100453251	Missense_Mutation	SNP	T	TCGA-24-0968-01A-01W-0484-10		100453251	33398644	16	11871											
PTPN11	5781	hgsc.bcm.edu	37	12	112915743	112915743	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr12:112915743A>G	ENST00000351677.2	+	9	1214	c.1016A>G	c.(1015-1017)aAt>aGt	p.N339S	PTPN11_ENST00000392597.1_Missense_Mutation_p.N339S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	339	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.N339S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AACACGGTGAATGACTTTTGG	0.413			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																														Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	1	Substitution - Missense(1)	ovary(1)	12											70	63	66					12																	112915743		2203	4300	6503	111400126	SO:0001583	missense	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1016A>G	12.37:g.112915743A>G	ENSP00000340944:p.Asn339Ser		111400126	A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512834	0.27123	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.83075	-1.68;-1.68	6.03	6.03	0.97812	.	0.124428	0.64402	D	0.000001	T	0.76608	0.4011	L	0.33093	0.98	0.44000	D	0.996707	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.70223	-0.4931	10	0.31617	T	0.26	.	16.6115	0.84884	1.0:0.0:0.0:0.0	.	339;339	Q06124-2;Q06124-3	.;.	S	339	ENSP00000376376:N339S;ENSP00000340944:N339S	ENSP00000340944:N339S	N	+	2	0	PTPN11	111400126	1.000000	0.71417	0.945000	0.38365	0.921000	0.55340	4.731000	0.62022	2.327000	0.79052	0.524000	0.50904	AAT		0.413	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			G	112915743	A	G	112915743	3	3	204	1	0	0	0	0	1	0	0	0	12783	101	4	4	1050	4	PTPN11	12	112915743	Missense_Mutation	SNP	A	TCGA-24-0968-01A-01W-0484-10	12462492	112915743	20936152	17	11872											
PDS5B	23047	hgsc.bcm.edu	37	13	33241958	33241958	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr13:33241958G>C	ENST00000315596.10	+	7	868	c.682G>C	c.(682-684)Gct>Cct	p.A228P		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	228					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.A228P(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GACAGCTCAAGCTATTGAGCC	0.299																																																1	Substitution - Missense(1)	ovary(1)	13											54	51	52					13																	33241958		1820	4066	5886	32139958	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.682G>C	13.37:g.33241958G>C	ENSP00000313851:p.Ala228Pro		32139958	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391691	0.83011	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	4.63	4.63	0.57726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	L	0.55481	1.735	0.80722	D	1	D;P	0.58268	0.982;0.941	P;P	0.57960	0.83;0.628	T	0.75482	-0.3302	9	0.59425	D	0.04	-0.5573	17.9407	0.89026	0.0:0.0:1.0:0.0	.	228;228	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	P	228	.	ENSP00000313851:A228P	A	+	1	0	PDS5B	32139958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.961000	0.56759	2.286000	0.76751	0.650000	0.86243	GCT		0.299	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		C	33241958	G	C	33241958	3	2	204	1	0	0	0	0	1	0	0	0	11692	971	34	3	704	3	PDS5B	13	33241958	Missense_Mutation	SNP	G	TCGA-24-0968-01A-01W-0484-10		33241958	81927920	18	11873											
TP53	7157	hgsc.bcm.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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"	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	17	GRCh37	CM083194|CM951225	TP53	M							97	87	90					17																	7578271		2203	4300	6503	7518996	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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg		7518996	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	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	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	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578271	T	C	7578271	3	2	204	1	0	0	0	0	1	0	0	0	16381	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-24-0968-01A-01W-0484-10		7578271	73616939	19	11874											
MMP9	4318	hgsc.bcm.edu	37	20	44637670	44637670	+	Silent	SNP	G	G	C			TCGA-24-0968-01A-01W-0484-10	TCGA-24-0968-10C-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	67956d88-1909-42af-990e-a140f0210eb9	084668dc-0974-49e5-a1eb-95bae0112680	g.chr20:44637670G>C	ENST00000372330.3	+	1	124	c.105G>C	c.(103-105)ctG>ctC	p.L35L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	35					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L35L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CTGGAGACCTGAGAACCAATC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	20											48	40	43					20																	44637670		2203	4300	6503	44071077	SO:0001819	synonymous_variant	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.105G>C	20.37:g.44637670G>C			44071077	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	CCDS13390.1																																																																																				0.627	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			C	44637670	G	C	44637670	2	2	204	1	0	0	0	0	0	0	0	1	9669	1277	45	3		3	MMP9	20	44637670	Silent	SNP	G	TCGA-24-0968-01A-01W-0484-10		44637670	18387850	20	11875											
KIAA2013	90231	broad.mit.edu	37	1	11983200	11983200	+	Silent	SNP	C	C	T			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr1:11983200C>T	ENST00000376572.3	-	2	1565	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G	KIAA2013_ENST00000376576.3_Silent_p.G460G	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	460						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G460G(1)		endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACTGCAGCCCCCCAAAGC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	1											25	29	28					1																	11983200		2188	4286	6474	11905787	SO:0001819	synonymous_variant	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1380G>A	1.37:g.11983200C>T			11905787	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	ENST00000376572.3	37	CCDS141.1																																																																																				0.607	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		T	11983200	C	T	11983200	2	4	205	1	0	0	0	0	0	0	0	1	8267	726	26	2		2	KIAA2013	1	11983200	Silent	SNP	C	TCGA-24-0970-01B-01W-0486-08		11983200	237267421	1	11876											
IL1F8	27177	broad.mit.edu	37	2	113786566	113786566	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr2:113786566G>C	ENST00000259213.4	-	4	318	c.211C>G	c.(211-213)Ctc>Gtc	p.L71V	IL36B_ENST00000327407.2_Missense_Mutation_p.L71V	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	71					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)	p.L71V(1)		kidney(1)|ovary(1)|pancreas(1)	3						AAGAGACAGAGATCTTTTCCC	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											188	165	173					2																	113786566		2203	4300	6503	113503037	SO:0001583	missense	27177			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.211C>G	2.37:g.113786566G>C	ENSP00000259213:p.Leu71Val		113503037	Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	g	10.69	1.421911	0.25639	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.27720	1.96;1.65	4.38	2.52	0.30459	.	0.333042	0.21766	N	0.069422	T	0.41834	0.1176	M	0.63843	1.955	0.09310	N	1	P;D	0.61697	0.866;0.99	P;P	0.59115	0.461;0.852	T	0.18023	-1.0350	10	0.52906	T	0.07	.	6.3024	0.21119	0.1041:0.1863:0.7096:0.0	.	71;71	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	V	71	ENSP00000259213:L71V;ENSP00000328420:L71V	ENSP00000259213:L71V	L	-	1	0	IL36B	113503037	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.299000	0.19138	0.384000	0.24942	-0.261000	0.10672	CTC		0.418	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		C	113786566	G	C	113786566	3	2	205	1	0	0	0	0	1	0	0	0	7656	942	33	3	512	3	IL1F8	2	113786566	Missense_Mutation	SNP	G	TCGA-24-0970-01B-01W-0486-08		113786566	129412807	2	11877											
MYRIP	25924	broad.mit.edu	37	3	40286041	40286041	+	Silent	SNP	G	G	A	rs201745391		TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr3:40286041G>A	ENST00000302541.6	+	13	2547	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A	MYRIP_ENST00000444716.1_Silent_p.A735A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.A670A|MYRIP_ENST00000539167.1_Silent_p.A548A|MYRIP_ENST00000396217.3_Silent_p.A646A	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	735	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.A735A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCATCTGGCGGATCTGGAGG	0.607																																																2	Substitution - coding silent(2)	ovary(1)|skin(1)	3						G		0,4406		0,0,2203	60	56	57		2205	-11.1	0.3	3		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYRIP	NM_015460.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		735/860	40286041	1,13005	2203	4300	6503	40261045	SO:0001819	synonymous_variant	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2205G>A	3.37:g.40286041G>A			40261045	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	CCDS2689.1																																																																																				0.607	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		A	40286041	G	A	40286041	2	1	205	1	0	0	0	0	0	0	0	1	10100	1103	39	1		1	MYRIP	3	40286041	Silent	SNP	G	TCGA-24-0970-01B-01W-0486-08		40286041	157736389	3	11878											
CEP97	79598	broad.mit.edu	37	3	101476585	101476585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr3:101476585C>T	ENST00000341893.3	+	9	1887	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	CEP97_ENST00000494050.1_Intron|CEP97_ENST00000327230.4_Nonsense_Mutation_p.R379*			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	379	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.R379*(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGATATTCTCGAAATGATCT	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	3											107	95	99					3																	101476585		2203	4300	6503	102959275	SO:0001587	stop_gained	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1135C>T	3.37:g.101476585C>T	ENSP00000342510:p.Arg379*		102959275	B5MDY8|Q8NA71|Q9H5T9	Nonsense_Mutation	SNP	ENST00000341893.3	37	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487765	0.84854	.	.	ENSG00000182504	ENST00000341893;ENST00000327230	.	.	.	5.04	5.04	0.67666	.	0.572979	0.18145	N	0.150264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.095	8.7281	0.34483	0.0:0.7837:0.0:0.2163	.	.	.	.	X	379	.	ENSP00000325881:R379X	R	+	1	2	CEP97	102959275	0.997000	0.39634	1.000000	0.80357	0.888000	0.51559	0.862000	0.27899	2.328000	0.79073	0.313000	0.20887	CGA		0.398	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		T	101476585	C	T	101476585	4	4	205	1	0	0	0	0	0	1	0	0	3263	876	31	1	1169	1	CEP97	3	101476585	Nonsense_Mutation	SNP	C	TCGA-24-0970-01B-01W-0486-08	61190544	101476585	96545845	4	11879											
SI	6476	broad.mit.edu	37	3	164735380	164735380	+	Missense_Mutation	SNP	C	C	A	rs41273567		TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr3:164735380C>A	ENST00000264382.3	-	31	3777	c.3715G>T	c.(3715-3717)Gtt>Ttt	p.V1239F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1239	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.V1239F(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATTCCCGAACCTCTGAAGTA	0.348										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	ovary(1)	3											65	62	63					3																	164735380		2203	4299	6502	166218074	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3715G>T	3.37:g.164735380C>A	ENSP00000264382:p.Val1239Phe		166218074	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577387	0.45902	.	.	ENSG00000090402	ENST00000264382	D	0.94092	-3.35	5.31	-4.39	0.03611	Glycoside hydrolase, superfamily (1);	0.541730	0.19953	N	0.102376	D	0.94175	0.8131	M	0.85197	2.74	0.09310	N	1	P	0.40909	0.732	P	0.47603	0.551	D	0.90856	0.4735	10	0.72032	D	0.01	.	15.4418	0.75190	0.0:0.4038:0.0:0.5962	.	1239	P14410	SUIS_HUMAN	F	1239	ENSP00000264382:V1239F	ENSP00000264382:V1239F	V	-	1	0	SI	166218074	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	-0.822000	0.04448	-1.123000	0.02940	-1.936000	0.00505	GTT		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164735380	C	A	164735380	3	1	205	1	0	0	0	0	1	0	0	0	14300	507	18	3	1840	3	SI	3	164735380	Missense_Mutation	SNP	C	TCGA-24-0970-01B-01W-0486-08	63258795	164735380	33287050	5	11880											
CCDC39	339829	broad.mit.edu	37	3	180349289	180349289	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr3:180349289C>G	ENST00000442201.2	-	14	2085	c.1966G>C	c.(1966-1968)Gag>Cag	p.E656Q	CCDC39_ENST00000273654.4_Missense_Mutation_p.E740Q	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	656					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E740Q(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTTTTCTCCTCTTCTCCTTCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	3											100	101	101					3																	180349289		1849	4096	5945	181831983	SO:0001583	missense	339829			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1966G>C	3.37:g.180349289C>G	ENSP00000405708:p.Glu656Gln		181831983	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585641	0.86748	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.4	5.4	0.78164	.	0.118143	0.56097	D	0.000031	T	0.80486	0.4632	M	0.82923	2.615	0.44395	D	0.997305	D	0.76494	0.999	D	0.65443	0.935	T	0.82581	-0.0386	9	0.62326	D	0.03	-14.2715	18.2955	0.90145	0.0:1.0:0.0:0.0	.	656	Q9UFE4	CCD39_HUMAN	Q	740;656	.	ENSP00000273654:E740Q	E	-	1	0	CCDC39	181831983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.326000	0.72905	2.678000	0.91216	0.655000	0.94253	GAG		0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		G	180349289	C	G	180349289	3	3	205	1	0	0	0	0	1	0	0	0	2811	922	32	3	887	3	CCDC39	3	180349289	Missense_Mutation	SNP	C	TCGA-24-0970-01B-01W-0486-08	15613909	180349289	17673141	6	11881											
PCDHAC1	56135	broad.mit.edu	37	5	140308286	140308286	+	Silent	SNP	G	G	A			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr5:140308286G>A	ENST00000253807.2	+	1	1809	c.1809G>A	c.(1807-1809)gcG>gcA	p.A603A	PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.A603A|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	603	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A603A(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCGGGCGTCTGACTCTA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	5											79	83	81					5																	140308286		2203	4300	6503	140288470	SO:0001819	synonymous_variant	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1809G>A	5.37:g.140308286G>A			140288470	Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	CCDS4241.1																																																																																				0.522	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		A	140308286	G	A	140308286	2	1	205	1	0	0	0	0	0	0	0	1	11532	1132	40	1		1	PCDHAC1	5	140308286	Silent	SNP	G	TCGA-24-0970-01B-01W-0486-08		140308286	40606974	7	11882											
EPHA7	2045	broad.mit.edu	37	6	93974358	93974358	+	Missense_Mutation	SNP	T	T	C	rs77295523		TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr6:93974358T>C	ENST00000369303.4	-	8	1880	c.1696A>G	c.(1696-1698)Acc>Gcc	p.T566A		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	566					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.T566A(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAAATGATGGTCCCAGCTACA	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											78	72	74					6																	93974358		2203	4299	6502	94031079	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1696A>G	6.37:g.93974358T>C	ENSP00000358309:p.Thr566Ala		94031079	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255924	0.59321	.	.	ENSG00000135333	ENST00000369303	T	0.09723	2.95	5.49	5.49	0.81192	.	0.057469	0.64402	D	0.000002	T	0.11922	0.0290	N	0.17723	0.515	0.80722	D	1	D;P;P	0.56035	0.974;0.672;0.543	D;B;B	0.67725	0.953;0.174;0.037	T	0.12293	-1.0553	10	0.59425	D	0.04	.	15.5873	0.76495	0.0:0.0:0.0:1.0	.	566;561;566	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	A	566	ENSP00000358309:T566A	ENSP00000358309:T566A	T	-	1	0	EPHA7	94031079	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.089000	0.63090	0.533000	0.62120	ACC		0.383	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			C	93974358	T	C	93974358	3	2	205	1	0	0	0	0	1	0	0	0	5172	1667	58	4	1340	4	EPHA7	6	93974358	Missense_Mutation	SNP	T	TCGA-24-0970-01B-01W-0486-08		93974358	77140709	8	11883											
RSPH10B	728194	broad.mit.edu	37	7	6797490	6797490	+	Missense_Mutation	SNP	G	G	A	rs373324068		TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr7:6797490G>A	ENST00000403107.1	+	2	569	c.182G>A	c.(181-183)cGc>cAc	p.R61H	RSPH10B2_ENST00000404077.1_Missense_Mutation_p.R61H|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.R61H|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.R61H			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	61								p.R61H(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						AAAAAAGACCGCCAAAACGTT	0.483																																																2	Substitution - Missense(2)	ovary(2)	7											113	127	122					7																	6797490		2158	4264	6422	6764015	SO:0001583	missense	222967				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.182G>A	7.37:g.6797490G>A	ENSP00000384766:p.Arg61His		6764015	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	37	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	g	8.412	0.844331	0.16963	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	2.09	0.206	0.15208	.	32.676400	0.00166	U	0.000004	T	0.24314	0.0589	N	0.08118	0	0.09310	N	0.999999	B	0.30937	0.301	B	0.08055	0.003	T	0.10941	-1.0608	10	0.45353	T	0.12	.	2.831	0.05499	0.0:0.4322:0.2467:0.3211	.	61	B2RC85	R10B2_HUMAN	H	61	ENSP00000384766:R61H;ENSP00000386102:R61H;ENSP00000297186:R61H;ENSP00000416710:R61H	ENSP00000297186:R61H	R	+	2	0	RSPH10B2	6764015	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.459000	0.06728	-0.247000	0.09597	-0.901000	0.02856	CGC		0.483	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		A	6797490	G	A	6797490	3	1	205	1	0	0	0	0	1	0	0	0	13706	1087	38	1	2873	1	RSPH10B	7	6797490	Missense_Mutation	SNP	G	TCGA-24-0970-01B-01W-0486-08		6797490	152341173	9	11884											
KIAA1324L	222223	broad.mit.edu	37	7	86556219	86556219	+	Missense_Mutation	SNP	T	T	C	rs370803630		TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr7:86556219T>C	ENST00000450689.2	-	9	1288	c.1103A>G	c.(1102-1104)tAc>tGc	p.Y368C	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.Y201C|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.Y128C|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.Y368C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	368						integral component of membrane (GO:0016021)		p.Y128C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATCCACTTGTACATTATCTG	0.388																																																1	Substitution - Missense(1)	ovary(1)	7											73	73	73					7																	86556219		2203	4300	6503	86394155	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1103A>G	7.37:g.86556219T>C	ENSP00000413445:p.Tyr368Cys		86394155	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029603	0.54790	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.36878	2.4;1.23;2.4;2.4	5.23	5.23	0.72850	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.994;0.944;0.912	T	0.68716	-0.5335	10	0.66056	D	0.02	.	14.5924	0.68378	0.0:0.0:0.0:1.0	.	368;128;201	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	C	368;128;368;201	ENSP00000413445:Y368C;ENSP00000297222:Y128C;ENSP00000397377:Y368C;ENSP00000402390:Y201C	ENSP00000297222:Y128C	Y	-	2	0	KIAA1324L	86394155	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	4.989000	0.63870	2.098000	0.63641	0.460000	0.39030	TAC		0.388	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		C	86556219	T	C	86556219	3	2	205	1	0	0	0	0	1	0	0	0	8224	1638	57	4	2042	4	KIAA1324L	7	86556219	Missense_Mutation	SNP	T	TCGA-24-0970-01B-01W-0486-08	79758729	86556219	72582444	10	11885											
ADAM22	53616	broad.mit.edu	37	7	87762239	87762239	+	Silent	SNP	G	G	A			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr7:87762239G>A	ENST00000265727.7	+	12	1129	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	ADAM22_ENST00000315984.7_Silent_p.S350S|ADAM22_ENST00000398204.4_Silent_p.S350S|ADAM22_ENST00000398201.4_Silent_p.S350S|ADAM22_ENST00000398209.3_Silent_p.S350S			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	350	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S350S(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGATTTGCTCGTTGCTGAAAG	0.408																																																2	Substitution - coding silent(2)	ovary(2)	7											193	203	199					7																	87762239		2087	4234	6321	87600175	SO:0001819	synonymous_variant	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1050G>A	7.37:g.87762239G>A			87600175	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	CCDS47637.1																																																																																				0.408	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		A	87762239	G	A	87762239	2	1	205	1	0	0	0	0	0	0	0	1	244	1132	40	1		1	ADAM22	7	87762239	Silent	SNP	G	TCGA-24-0970-01B-01W-0486-08	1206020	87762239	71376424	11	11886											
SMURF1	57154	broad.mit.edu	37	7	98636021	98636021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr7:98636021C>A	ENST00000361125.1	-	15	2075	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*	SMURF1_ENST00000361368.2_Nonsense_Mutation_p.E560*|AC004893.11_ENST00000360902.1_RNA|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	586	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)	p.E586*(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CGGACGTATTCTTTCTTATTC	0.577																																																1	Substitution - Nonsense(1)	ovary(1)	7											99	82	88					7																	98636021		2203	4300	6503	98473957	SO:0001587	stop_gained	57154			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1756G>T	7.37:g.98636021C>A	ENSP00000354621:p.Glu586*		98473957	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Nonsense_Mutation	SNP	ENST00000361125.1	37	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	40	8.208232	0.98706	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	.	.	.	5.5	5.5	0.81552	.	0.047074	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.7727	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	X	560;586	.	ENSP00000354621:E586X	E	-	1	0	SMURF1	98473957	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	7.445000	0.80570	2.758000	0.94735	0.563000	0.77884	GAA		0.577	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		A	98636021	C	A	98636021	4	1	205	1	0	0	0	0	0	1	0	0	14822	922	32	3	537	3	SMURF1	7	98636021	Nonsense_Mutation	SNP	C	TCGA-24-0970-01B-01W-0486-08	10873782	98636021	60502642	12	11887											
MUC17	140453	broad.mit.edu	37	7	100685235	100685235	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr7:100685235G>T	ENST00000306151.4	+	3	10602	c.10538G>T	c.(10537-10539)gGt>gTt	p.G3513V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3513	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.G3513V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACTGCTGGTGAAGGAAGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	7											232	245	241					7																	100685235		2203	4300	6503	100471955	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10538G>T	7.37:g.100685235G>T	ENSP00000302716:p.Gly3513Val		100471955	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	4.322	0.059186	0.08339	.	.	ENSG00000169876	ENST00000306151	T	0.04706	3.57	1.37	-0.395	0.12431	.	.	.	.	.	T	0.06508	0.0167	N	0.14661	0.345	0.09310	N	1	D	0.57899	0.981	D	0.63381	0.914	T	0.43163	-0.9408	9	0.26408	T	0.33	.	7.4543	0.27257	0.0:0.6681:0.3319:0.0	.	3513	Q685J3	MUC17_HUMAN	V	3513	ENSP00000302716:G3513V	ENSP00000302716:G3513V	G	+	2	0	MUC17	100471955	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.822000	0.04448	-0.224000	0.09928	0.186000	0.17326	GGT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100685235	G	T	100685235	3	4	205	1	0	0	0	0	1	0	0	0	9974	1261	44	3	10548	3	MUC17	7	100685235	Missense_Mutation	SNP	G	TCGA-24-0970-01B-01W-0486-08	2049214	100685235	58453428	13	11888											
PXDNL	137902	broad.mit.edu	37	8	52322088	52322088	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr8:52322088G>C	ENST00000356297.4	-	17	2196	c.2096C>G	c.(2095-2097)tCc>tGc	p.S699C	PXDNL_ENST00000543296.1_Missense_Mutation_p.S699C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	699					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S699C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGGCTGAGGGAGCGCGGGGA	0.622																																																1	Substitution - Missense(1)	ovary(1)	8											31	36	34					8																	52322088		2110	4234	6344	52484641	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2096C>G	8.37:g.52322088G>C	ENSP00000348645:p.Ser699Cys		52484641	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	5.535	0.283615	0.10458	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66638	-0.19;-0.22	3.19	0.66	0.17868	.	.	.	.	.	T	0.33556	0.0867	N	0.08118	0	0.21933	N	0.999464	P	0.46952	0.887	B	0.31869	0.137	T	0.18840	-1.0324	8	.	.	.	.	4.447	0.11602	0.173:0.0:0.2347:0.5923	.	699	A1KZ92	PXDNL_HUMAN	C	699	ENSP00000348645:S699C;ENSP00000444865:S699C	.	S	-	2	0	PXDNL	52484641	1.000000	0.71417	0.011000	0.14972	0.031000	0.12232	3.359000	0.52292	-0.093000	0.12396	0.561000	0.74099	TCC		0.622	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		C	52322088	G	C	52322088	3	2	205	1	0	0	0	0	1	0	0	0	12851	1174	41	3	2323	3	PXDNL	8	52322088	Missense_Mutation	SNP	G	TCGA-24-0970-01B-01W-0486-08		52322088	94041934	14	11889											
SORCS3	22986	broad.mit.edu	37	10	106602582	106602582	+	Silent	SNP	C	C	T			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr10:106602582C>T	ENST00000369701.3	+	2	887	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	220					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.F220F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGTATGACTTCAACCTGGGCA	0.483																																					NSCLC(116;1497 1690 7108 13108 14106)											1	Substitution - coding silent(1)	ovary(1)	10											103	94	97					10																	106602582		2203	4300	6503	106592572	SO:0001819	synonymous_variant	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.660C>T	10.37:g.106602582C>T			106592572	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																				0.483	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	106602582	C	T	106602582	2	4	205	1	0	0	0	0	0	0	0	1	14935	825	29	2		2	SORCS3	10	106602582	Silent	SNP	C	TCGA-24-0970-01B-01W-0486-08		106602582	28932165	15	11890											
KRT72	140807	broad.mit.edu	37	12	52992858	52992858	+	Silent	SNP	G	G	T			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr12:52992858G>T	ENST00000537672.2	-	2	475	c.465C>A	c.(463-465)acC>acA	p.T155T	KRT72_ENST00000354310.4_Silent_p.T155T|KRT72_ENST00000293745.2_Silent_p.T155T|KRT72_ENST00000398066.3_5'UTR|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	155	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T155T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGTTCCACTTGGTCTCTAGCA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	12											108	99	102					12																	52992858		2203	4300	6503	51279125	SO:0001819	synonymous_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.465C>A	12.37:g.52992858G>T			51279125	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	9.446	1.089333	0.20390	.	.	ENSG00000170486	ENST00000549979	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.70622	0.3245	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67979	-0.5530	4	.	.	.	.	14.5673	0.68185	0.0:0.0:0.8536:0.1464	.	.	.	.	K	152	.	.	Q	-	1	0	KRT72	51279125	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.120000	0.50430	2.838000	0.97847	0.561000	0.74099	CAA		0.547	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		T	52992858	G	T	52992858	2	4	205	1	0	0	0	0	0	0	0	1	8485	1335	47	3		3	KRT72	12	52992858	Silent	SNP	G	TCGA-24-0970-01B-01W-0486-08		52992858	80859037	16	11891											
NTN4	59277	broad.mit.edu	37	12	96104258	96104258	+	Missense_Mutation	SNP	C	C	T	rs377286047		TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr12:96104258C>T	ENST00000343702.4	-	5	1589	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	NTN4_ENST00000344911.4_Missense_Mutation_p.D344N|NTN4_ENST00000553059.1_Missense_Mutation_p.D381N|NTN4_ENST00000552603.1_5'Flank|NTN4_ENST00000538383.1_Missense_Mutation_p.D344N	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	381	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)		p.D381N(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTCCGCAGGTCACGATAGAAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	12						C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	196	140	159		1141	5.4	1	12		159	0,8600		0,0,4300	no	missense	NTN4	NM_021229.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	381/629	96104258	1,13005	2203	4300	6503	94628389	SO:0001583	missense	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1141G>A	12.37:g.96104258C>T	ENSP00000340998:p.Asp381Asn		94628389	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929171	0.52759	2.27E-4	0.0	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.39	5.39	0.77823	EGF-like, laminin (4);	0.044080	0.85682	D	0.000000	T	0.58538	0.2129	L	0.43757	1.38	0.58432	D	0.999997	B;B	0.30406	0.278;0.179	B;B	0.38378	0.125;0.272	T	0.55685	-0.8102	10	0.40728	T	0.16	.	19.5354	0.95251	0.0:1.0:0.0:0.0	.	381;381	Q9HB63-2;Q9HB63	.;NET4_HUMAN	N	381;344;344;381	ENSP00000340998:D381N;ENSP00000339436:D344N;ENSP00000444432:D344N;ENSP00000447292:D381N	ENSP00000340998:D381N	D	-	1	0	NTN4	94628389	1.000000	0.71417	0.970000	0.41538	0.400000	0.30750	4.487000	0.60293	2.709000	0.92574	0.655000	0.94253	GAC		0.488	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		T	96104258	C	T	96104258	3	4	205	1	0	0	0	0	1	0	0	0	10702	826	29	2	769	2	NTN4	12	96104258	Missense_Mutation	SNP	C	TCGA-24-0970-01B-01W-0486-08	43111400	96104258	37747637	17	11892											
UTP14C	9724	broad.mit.edu	37	13	52603442	52603442	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr13:52603442G>A	ENST00000521776.2	+	2	1235	c.502G>A	c.(502-504)Gct>Act	p.A168T	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	168					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.A168T(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCCAGCCATTGCTCCCATTGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	13											60	61	61					13																	52603442		2203	4300	6503	51501443	SO:0001583	missense	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.502G>A	13.37:g.52603442G>A	ENSP00000428619:p.Ala168Thr		51501443	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	5.192	0.220932	0.09863	.	.	ENSG00000253797	ENST00000521776	T	0.17854	2.25	2.46	0.419	0.16438	.	0.321302	0.36444	N	0.002593	T	0.10723	0.0262	L	0.39633	1.23	0.09310	N	1	B	0.22800	0.075	B	0.23574	0.047	T	0.30090	-0.9990	10	0.20519	T	0.43	-0.2829	4.656	0.12618	0.1432:0.4548:0.402:0.0	.	168	Q5TAP6	UT14C_HUMAN	T	168	ENSP00000428619:A168T	ENSP00000428619:A168T	A	+	1	0	UTP14C	51501443	0.001000	0.12720	0.006000	0.13384	0.975000	0.68041	0.435000	0.21510	-0.056000	0.13221	0.448000	0.29417	GCT		0.527	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		A	52603442	G	A	52603442	3	1	205	1	0	0	0	0	1	0	0	0	17096	1319	46	2	504	2	UTP14C	13	52603442	Missense_Mutation	SNP	G	TCGA-24-0970-01B-01W-0486-08		52603442	62566436	18	11893											
CGNL1	84952	broad.mit.edu	37	15	57731032	57731032	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr15:57731032C>T	ENST00000281282.5	+	2	913	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	279	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.R279W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCTTCCCTTCCGGCGACAGGA	0.607																																																1	Substitution - Missense(1)	ovary(1)	15											51	56	54					15																	57731032		2192	4292	6484	55518324	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.835C>T	15.37:g.57731032C>T	ENSP00000281282:p.Arg279Trp		55518324	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920762	0.52653	.	.	ENSG00000128849	ENST00000281282	T	0.53640	0.61	5.79	3.91	0.45181	.	0.145230	0.32015	N	0.006720	T	0.40196	0.1107	M	0.62723	1.935	0.42985	D	0.994477	B	0.33135	0.399	B	0.23275	0.045	T	0.37220	-0.9715	10	0.87932	D	0	-29.5113	8.783	0.34802	0.268:0.6639:0.0:0.0682	.	279	Q0VF96	CGNL1_HUMAN	W	279	ENSP00000281282:R279W	ENSP00000281282:R279W	R	+	1	2	CGNL1	55518324	0.994000	0.37717	1.000000	0.80357	0.836000	0.47400	1.701000	0.37825	0.770000	0.33336	0.655000	0.94253	CGG		0.607	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		T	57731032	C	T	57731032	3	4	205	1	0	0	0	0	1	0	0	0	3304	643	23	1	837	1	CGNL1	15	57731032	Missense_Mutation	SNP	C	TCGA-24-0970-01B-01W-0486-08		57731032	44800360	19	11894											
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		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"	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	17	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82	74	76					17																	7578290		2203	4300	6503	7519015	SO:0001630	splice_region_variant	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.560-1G>A	17.37:g.7578290C>T			7519015	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7578290	C	T	7578290	5	4	205	1	0	0	0	0	0	0	1	0	16381	695	24	2	735	2	TP53	17	7578290	Splice_Site	SNP	C	TCGA-24-0970-01B-01W-0486-08		7578290	73616920	20	11895											
POLDIP2	26073	broad.mit.edu	37	17	26680733	26680733	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr17:26680733G>C	ENST00000540200.1	-	5	422	c.423C>G	c.(421-423)gaC>gaG	p.D141E	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	142					mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TATGTGGGCAGTCACGAGCAT	0.532																																																0			17											199	191	194					17																	26680733		1998	4169	6167	23704860	SO:0001583	missense	26073			AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.423C>G	17.37:g.26680733G>C	ENSP00000475924:p.Asp141Glu		23704860	B2R846|Q96JE4	Missense_Mutation	SNP	ENST00000540200.1	37																																																																																					0.532	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015584		C	26680733	G	C	26680733	3	2	205	1	0	0	0	0	1	0	0	0	12194	1020	36	3	712	3	POLDIP2	17	26680733	Missense_Mutation	SNP	G	TCGA-24-0970-01B-01W-0486-08	19102443	26680733	54514477	21	11896											
CCDC151	115948	broad.mit.edu	37	19	11537566	11537566	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr19:11537566C>A	ENST00000356392.4	-	5	738	c.651G>T	c.(649-651)caG>caT	p.Q217H	CCDC151_ENST00000586836.1_Missense_Mutation_p.Q26H|CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000545100.1_Missense_Mutation_p.Q163H	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	217								p.Q217H(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GCGCCTTCATCTGGGCCTTCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											55	59	58					19																	11537566		2045	4192	6237	11398566	SO:0001583	missense	115948				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.651G>T	19.37:g.11537566C>A	ENSP00000348757:p.Gln217His		11398566	B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478890	0.44044	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.84516	-1.86;-1.86	4.65	2.45	0.29901	.	0.157260	0.44483	D	0.000444	T	0.70413	0.3221	N	0.24115	0.695	0.18873	N	0.999988	B;B	0.16396	0.007;0.017	B;B	0.09377	0.004;0.004	T	0.51988	-0.8635	10	0.16420	T	0.52	-11.7556	7.4404	0.27179	0.0:0.7336:0.1705:0.0959	.	217;197	A5D8V7;B4DG09	CC151_HUMAN;.	H	163;217;196	ENSP00000442987:Q163H;ENSP00000348757:Q217H	ENSP00000348757:Q217H	Q	-	3	2	CCDC151	11398566	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	1.686000	0.37669	0.371000	0.24564	0.561000	0.74099	CAG		0.612	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		A	11537566	C	A	11537566	3	1	205	1	0	0	0	0	1	0	0	0	2786	912	32	3	1172	3	CCDC151	19	11537566	Missense_Mutation	SNP	C	TCGA-24-0970-01B-01W-0486-08		11537566	47591417	22	11897											
CYP4F12	66002	broad.mit.edu	37	19	15794522	15794522	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr19:15794522C>G	ENST00000550308.1	+	7	1247	c.867C>G	c.(865-867)gaC>gaG	p.D289E	CYP4F12_ENST00000324632.10_Missense_Mutation_p.D289E	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	289					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.D289E(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TTTTCAAAGACAAAGCCAAGT	0.493																																																1	Substitution - Missense(1)	ovary(1)	19											130	127	128					19																	15794522		2200	4299	6499	15655522	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.867C>G	19.37:g.15794522C>G	ENSP00000448998:p.Asp289Glu		15655522	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.259890	0.00262	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69435	-0.4;-0.4	2.47	1.39	0.22231	.	2.426560	0.02742	U	0.116377	T	0.45175	0.1329	N	0.12611	0.24	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.30387	-0.9980	10	0.12103	T	0.63	.	3.7605	0.08602	0.0:0.5895:0.2614:0.1491	.	289	Q9HCS2	CP4FC_HUMAN	E	289	ENSP00000448998:D289E;ENSP00000321821:D289E	ENSP00000321821:D289E	D	+	3	2	CYP4F12	15655522	0.979000	0.34478	0.017000	0.16124	0.003000	0.03518	1.133000	0.31430	0.578000	0.29487	0.491000	0.48974	GAC		0.493	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			G	15794522	C	G	15794522	3	3	205	1	0	0	0	0	1	0	0	0	4187	477	17	3	889	3	CYP4F12	19	15794522	Missense_Mutation	SNP	C	TCGA-24-0970-01B-01W-0486-08	4256956	15794522	43334461	23	11898											
GGTLC1	92086	broad.mit.edu	37	20	23966531	23966531	+	Missense_Mutation	SNP	C	C	T	rs139692095	byFrequency	TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr20:23966531C>T	ENST00000335694.4	-	4	589	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	GGTLC1_ENST00000286890.4_Missense_Mutation_p.G129R|GGTLC1_ENST00000278765.4_Missense_Mutation_p.G129R	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	129	Glutamate binding. {ECO:0000250}.				glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.G129R(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TGCGTGCCCCCGGCAGCTCCC	0.647													.|||	7	0.00139776	0	0	5008	,	,		13677	0		0	False		,,,				2504	0.0072															2	Substitution - Missense(2)	ovary(2)	20						C	ARG/GLY,ARG/GLY	1,3021		0,1,1510	108	118	115		385,385	0.8	0.1	20	dbSNP_134	115	4,5414		0,4,2705	no	missense,missense	GGTLC1	NM_178311.2,NM_178312.2	125,125	0,5,4215	TT,TC,CC		0.0738,0.0331,0.0592	probably-damaging,probably-damaging	129/226,129/226	23966531	5,8435	1511	2709	4220	23914531	SO:0001583	missense	92086			AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"Gamma-glutamyltransferases"	16437	protein-coding gene	gene with protein product		612338	"gamma-glutamyltransferase-like activity 4", "gamma-glutamyltransferase-like activity 3"	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.385G>A	20.37:g.23966531C>T	ENSP00000337587:p.Gly129Arg		23914531	D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	15.95	2.985052	0.53934	3.31E-4	7.38E-4	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.72394	-0.65;-0.65;-0.65	0.844	0.844	0.18943	.	0.000000	0.85682	D	0.000000	D	0.89406	0.6706	H	0.99800	4.79	0.45662	D	0.998588	D	0.89917	1.0	D	0.79108	0.992	D	0.86593	0.1861	10	0.87932	D	0	-43.9924	7.477	0.27382	0.0:0.9999:0.0:1.0E-4	.	129	Q9BX51	GGTL1_HUMAN	R	129	ENSP00000286890:G129R;ENSP00000278765:G129R;ENSP00000337587:G129R	ENSP00000278765:G129R	G	-	1	0	GGTLC1	23914531	1.000000	0.71417	0.115000	0.21578	0.121000	0.20230	5.038000	0.64177	0.088000	0.17205	0.089000	0.15464	GGG		0.647	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		T	23966531	C	T	23966531	3	4	205	1	0	0	0	0	1	0	0	0	6365	652	23	1	304	1	GGTLC1	20	23966531	Missense_Mutation	SNP	C	TCGA-24-0970-01B-01W-0486-08		23966531	39058989	24	11899											
EFCAB6	64800	broad.mit.edu	37	22	43995977	43995977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-0970-01B-01W-0486-08	TCGA-24-0970-10A-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c8c6437a-1da4-4d1c-b5ab-1f7dc63372d0	18bb67c6-f043-40e8-8332-0f9aeaa4cf54	g.chr22:43995977G>A	ENST00000262726.7	-	23	3101	c.2848C>T	c.(2848-2850)Cag>Tag	p.Q950*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.Q798*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	950					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Q950*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTGTGCTCTGCTGCAGCTCC	0.517																																																1	Substitution - Nonsense(1)	ovary(1)	22											174	164	168					22																	43995977		2203	4300	6503	42327310	SO:0001587	stop_gained	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2848C>T	22.37:g.43995977G>A	ENSP00000262726:p.Gln950*		42327310	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	43	10.039492	0.99323	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	5.2	5.2	0.72013	.	0.376195	0.25058	N	0.033472	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-22.9705	15.5878	0.76499	0.0:0.0:1.0:0.0	.	.	.	.	X	798;950	.	ENSP00000262726:Q950X	Q	-	1	0	EFCAB6	42327310	0.960000	0.32886	0.989000	0.46669	0.864000	0.49448	2.171000	0.42453	2.695000	0.91970	0.650000	0.86243	CAG		0.517	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		A	43995977	G	A	43995977	4	1	205	1	0	0	0	0	0	1	0	0	4939	1328	46	2	1697	2	EFCAB6	22	43995977	Nonsense_Mutation	SNP	G	TCGA-24-0970-01B-01W-0486-08		43995977	7308589	25	11900											
PLA2G2F	64600	broad.mit.edu	37	1	20466009	20466009	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr1:20466009G>T	ENST00000375102.3	+	1	191	c.89G>T	c.(88-90)gGg>gTg	p.G30V		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	0					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.G30V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCACGCTTCGGGGCCTCCTGT	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											31	37	35					1																	20466009		1874	4093	5967	20338596	SO:0001583	missense	64600			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.89G>T	1.37:g.20466009G>T	ENSP00000364243:p.Gly30Val		20338596	Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	ENST00000375102.3	37	CCDS204.2	.	.	.	.	.	.	.	.	.	.	G	2.358	-0.347260	0.05208	.	.	ENSG00000158786	ENST00000375102	T	0.26810	1.71	5.14	0.956	0.19608	.	12.144800	0.00166	N	0.000000	T	0.19886	0.0478	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22695	-1.0209	9	0.52906	T	0.07	-12.6177	5.2192	0.15360	0.1895:0.3662:0.4443:0.0	.	30	Q9BZM2-2	.	V	30	ENSP00000364243:G30V	ENSP00000364243:G30V	G	+	2	0	PLA2G2F	20338596	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	0.236000	0.17967	0.236000	0.21180	0.655000	0.94253	GGG		0.597	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819		T	20466009	G	T	20466009	3	4	206	1	0	0	0	0	1	0	0	0	11999	1232	43	3	91	3	PLA2G2F	1	20466009	Missense_Mutation	SNP	G	TCGA-24-0975-01B-02W-0486-08		20466009	228784612	1	11901											
B3GALT1	8708	broad.mit.edu	37	2	168725920	168725920	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr2:168725920C>A	ENST00000392690.3	+	1	463	c.371C>A	c.(370-372)cCt>cAt	p.P124H	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.P124H			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	124					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.P124H(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AATGCTGATCCTGTTCTCAAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											78	71	74					2																	168725920		2203	4300	6503	168434166	SO:0001583	missense	8708			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"Beta 3-glycosyltransferases"	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.371C>A	2.37:g.168725920C>A	ENSP00000376456:p.Pro124His		168434166	D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679415	0.47886	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.41065	1.01;1.01	6.16	6.16	0.99307	.	0.209095	0.47093	D	0.000247	T	0.49287	0.1548	L	0.45352	1.415	0.42985	D	0.99447	P	0.48764	0.915	P	0.48840	0.592	T	0.37478	-0.9704	10	0.51188	T	0.08	-15.6779	20.8598	0.99761	0.0:1.0:0.0:0.0	.	124	Q9Y5Z6	B3GT1_HUMAN	H	124	ENSP00000303740:P124H;ENSP00000376456:P124H	ENSP00000303740:P124H	P	+	2	0	B3GALT1	168434166	0.989000	0.36119	1.000000	0.80357	0.985000	0.73830	2.867000	0.48428	2.937000	0.99478	0.650000	0.86243	CCT		0.468	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		A	168725920	C	A	168725920	3	1	206	1	0	0	0	0	1	0	0	0	1247	681	24	3	373	3	B3GALT1	2	168725920	Missense_Mutation	SNP	C	TCGA-24-0975-01B-02W-0486-08		168725920	74473453	2	11902											
KDM3B	51780	broad.mit.edu	37	5	137727864	137727864	+	Missense_Mutation	SNP	A	A	G	rs148445583	byFrequency	TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr5:137727864A>G	ENST00000314358.5	+	8	2743	c.2543A>G	c.(2542-2544)aAt>aGt	p.N848S	KDM3B_ENST00000394866.1_Missense_Mutation_p.N504S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	848					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.N848S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGGGCCCCAATGGGGAGCGC	0.607													A|||	2	0.000399361	0	0	5008	,	,		17648	0		0.002	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5						A	SER/ASN	2,4404	4.2+/-10.8	0,2,2201	43	49	47		2543	5.8	1	5	dbSNP_134	47	7,8593	6.4+/-24.3	0,7,4293	yes	missense	KDM3B	NM_016604.3	46	0,9,6494	GG,GA,AA		0.0814,0.0454,0.0692	benign	848/1762	137727864	9,12997	2203	4300	6503	137755763	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2543A>G	5.37:g.137727864A>G	ENSP00000326563:p.Asn848Ser		137755763	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	11.85	1.761087	0.31137	4.54E-4	8.14E-4	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.69561	0.17;-0.41	5.84	5.84	0.93424	.	0.302632	0.36066	N	0.002802	T	0.52917	0.1764	L	0.36672	1.1	0.80722	D	1	B;B	0.17852	0.009;0.024	B;B	0.12156	0.007;0.005	T	0.48636	-0.9018	10	0.09338	T	0.73	-12.9489	12.0312	0.53399	0.9309:0.0:0.0691:0.0	.	504;848	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	S	848;638;504	ENSP00000326563:N848S;ENSP00000378335:N504S	ENSP00000326563:N848S	N	+	2	0	KDM3B	137755763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.801000	0.47908	2.229000	0.72834	0.460000	0.39030	AAT		0.607	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		G	137727864	A	G	137727864	3	3	206	1	0	0	0	0	1	0	0	0	8127	101	4	4	2573	4	KDM3B	5	137727864	Missense_Mutation	SNP	A	TCGA-24-0975-01B-02W-0486-08		137727864	43187396	3	11903											
PCDH12	51294	broad.mit.edu	37	5	141337204	141337204	+	Silent	SNP	C	C	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr5:141337204C>G	ENST00000231484.3	-	1	1423	c.213G>C	c.(211-213)ctG>ctC	p.L71L	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L71L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGAGGCAGCTGCAACA	0.642																																																1	Substitution - coding silent(1)	ovary(1)	5											54	54	54					5																	141337204		2203	4300	6503	141317388	SO:0001819	synonymous_variant	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.213G>C	5.37:g.141337204C>G			141317388	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	CCDS4269.1																																																																																				0.642	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		G	141337204	C	G	141337204	2	3	206	1	0	0	0	0	0	0	0	1	11510	697	25	3		3	PCDH12	5	141337204	Silent	SNP	C	TCGA-24-0975-01B-02W-0486-08	3609340	141337204	39578056	4	11904											
AHI1	54806	broad.mit.edu	37	6	135787489	135787489	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr6:135787489A>G	ENST00000367800.4	-	5	428	c.212T>C	c.(211-213)cTt>cCt	p.L71P	AHI1_ENST00000457866.2_Missense_Mutation_p.L71P|AHI1_ENST00000327035.6_Missense_Mutation_p.L71P	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	71					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.L71P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AATATGGGGAAGATTGCTTCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	6											218	200	205					6																	135787489		1845	4098	5943	135829182	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.212T>C	6.37:g.135787489A>G	ENSP00000356774:p.Leu71Pro		135829182	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	A	6.679	0.493859	0.12702	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.54675	0.8;0.8;0.8;1.63;0.56	5.37	-0.182	0.13287	.	0.660669	0.12963	N	0.424802	T	0.18923	0.0454	L	0.33485	1.01	0.80722	D	1	B;B	0.18461	0.028;0.016	B;B	0.19666	0.026;0.011	T	0.15694	-1.0428	10	0.66056	D	0.02	-0.9998	3.1018	0.06328	0.6368:0.1186:0.1306:0.114	.	71;71	Q8N157-2;Q8N157	.;AHI1_HUMAN	P	71;71;71;71;71;53	ENSP00000356774:L71P;ENSP00000388650:L71P;ENSP00000265602:L71P;ENSP00000322478:L71P;ENSP00000433063:L53P	ENSP00000265602:L71P	L	-	2	0	AHI1	135829182	1.000000	0.71417	0.437000	0.26809	0.002000	0.02628	2.207000	0.42788	0.100000	0.17581	-0.438000	0.05819	CTT		0.328	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		G	135787489	A	G	135787489	3	3	206	1	0	0	0	0	1	0	0	0	413	72	3	4	3527	4	AHI1	6	135787489	Missense_Mutation	SNP	A	TCGA-24-0975-01B-02W-0486-08		135787489	35327578	5	11905											
THSD7A	221981	broad.mit.edu	37	7	11419269	11419269	+	Silent	SNP	C	C	G	rs560502292	byFrequency	TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr7:11419269C>G	ENST00000423059.4	-	25	4829	c.4578G>C	c.(4576-4578)tcG>tcC	p.S1526S	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000599875.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1526					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1526S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CGCTACAGTACGAGTGGGGTT	0.493										HNSCC(18;0.044)																																						1	Substitution - coding silent(1)	ovary(1)	7											74	76	75					7																	11419269		2044	4184	6228	11385794	SO:0001819	synonymous_variant	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4578G>C	7.37:g.11419269C>G			11385794		Silent	SNP	ENST00000423059.4	37	CCDS47543.1																																																																																				0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		G	11419269	C	G	11419269	2	3	206	1	0	0	0	0	0	0	0	1	15879	523	19	3		3	THSD7A	7	11419269	Silent	SNP	C	TCGA-24-0975-01B-02W-0486-08		11419269	147719394	6	11906											
SPAM1	6677	broad.mit.edu	37	7	123593641	123593641	+	Missense_Mutation	SNP	T	T	G	rs151116153	byFrequency	TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr7:123593641T>G	ENST00000439500.1	+	4	630	c.17T>G	c.(16-18)tTc>tGc	p.F6C	SPAM1_ENST00000340011.5_Missense_Mutation_p.F6C|SPAM1_ENST00000460182.1_Missense_Mutation_p.F6C|SPAM1_ENST00000402183.2_Missense_Mutation_p.F6C|SPAM1_ENST00000223028.7_Missense_Mutation_p.F6C	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	6					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.F6C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGCTAAAATTCAAGCACATC	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											71	68	69					7																	123593641		2203	4300	6503	123380877	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.17T>G	7.37:g.123593641T>G	ENSP00000402123:p.Phe6Cys		123380877	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866171	0.32977	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.51325	2.42;0.71;2.42;2.39;2.42;2.42	6.02	4.86	0.63082	.	0.583545	0.19190	N	0.120457	T	0.39572	0.1083	L	0.52573	1.65	0.09310	N	1	B;B	0.20780	0.048;0.038	B;B	0.17433	0.018;0.013	T	0.35943	-0.9768	10	0.49607	T	0.09	-4.5789	6.4538	0.21918	0.2714:0.0:0.1413:0.5873	.	6;6	Q8TC30;P38567	.;HYALP_HUMAN	C	6	ENSP00000386028:F6C;ENSP00000391491:F6C;ENSP00000417934:F6C;ENSP00000345849:F6C;ENSP00000402123:F6C;ENSP00000223028:F6C	ENSP00000223028:F6C	F	+	2	0	SPAM1	123380877	0.002000	0.14202	0.001000	0.08648	0.267000	0.26476	1.328000	0.33758	1.073000	0.40885	0.528000	0.53228	TTC		0.358	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			G	123593641	T	G	123593641	3	3	206	1	0	0	0	0	1	0	0	0	14989	1783	62	5	19	5	SPAM1	7	123593641	Missense_Mutation	SNP	T	TCGA-24-0975-01B-02W-0486-08	112174372	123593641	35545022	7	11907											
FAM190B	54462	broad.mit.edu	37	10	86131680	86131680	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr10:86131680A>G	ENST00000224756.8	+	2	1057	c.872A>G	c.(871-873)aAt>aGt	p.N291S	CCSER2_ENST00000372088.2_Missense_Mutation_p.N291S|CCSER2_ENST00000359979.4_Missense_Mutation_p.N291S	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	291					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.N291S(1)									TATGGATTTAATAGGCCTTAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											108	106	107					10																	86131680		2203	4300	6503	86121660	SO:0001583	missense	54462				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.872A>G	10.37:g.86131680A>G	ENSP00000224756:p.Asn291Ser		86121660	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	8.687	0.906538	0.17833	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.46063	0.88;2.23;2.19	5.97	3.66	0.41972	.	0.384238	0.26871	N	0.022064	T	0.34395	0.0896	L	0.46157	1.445	0.80722	D	1	B;B;P	0.44429	0.084;0.023;0.835	B;B;B	0.43889	0.04;0.02;0.435	T	0.06716	-1.0811	10	0.31617	T	0.26	-13.2934	4.9433	0.13976	0.6824:0.157:0.1606:0.0	.	291;291;291	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	S	291	ENSP00000353068:N291S;ENSP00000224756:N291S;ENSP00000361160:N291S	ENSP00000224756:N291S	N	+	2	0	FAM190B	86121660	0.748000	0.28294	0.557000	0.28306	0.995000	0.86356	0.251000	0.18257	0.519000	0.28406	0.533000	0.62120	AAT		0.433	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		G	86131680	A	G	86131680	3	3	206	1	0	0	0	0	1	0	0	0	5522	101	4	4	874	4	FAM190B	10	86131680	Missense_Mutation	SNP	A	TCGA-24-0975-01B-02W-0486-08		86131680	49403067	8	11908											
C10orf96	374355	broad.mit.edu	37	10	118101593	118101593	+	Missense_Mutation	SNP	A	A	C			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr10:118101593A>C	ENST00000333254.3	+	5	579	c.328A>C	c.(328-330)Aag>Cag	p.K110Q	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	110								p.K110Q(1)									CAAATTTATTAAGGAAATTAC	0.259																																																1	Substitution - Missense(1)	ovary(1)	10											31	36	34					10																	118101593		2161	4243	6404	118091583	SO:0001583	missense	374355			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 96"	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.328A>C	10.37:g.118101593A>C	ENSP00000329860:p.Lys110Gln		118091583		Missense_Mutation	SNP	ENST00000333254.3	37	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261195	0.59431	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	5.41	0.78517	.	0.114530	0.64402	D	0.000018	T	0.78773	0.4336	M	0.74881	2.28	0.37492	D	0.91644	D	0.89917	1.0	D	0.81914	0.995	D	0.83584	0.0119	9	0.66056	D	0.02	-17.1936	15.7228	0.77728	1.0:0.0:0.0:0.0	.	110	P0C7W6	CJ096_HUMAN	Q	110	.	ENSP00000329860:K110Q	K	+	1	0	C10orf96	118091583	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	3.681000	0.54648	2.179000	0.69175	0.533000	0.62120	AAG		0.259	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		C	118101593	A	C	118101593	3	2	206	1	0	0	0	0	1	0	0	0	1627	363	13	5	342	5	C10orf96	10	118101593	Missense_Mutation	SNP	A	TCGA-24-0975-01B-02W-0486-08	31969913	118101593	17433154	9	11909											
MMP27	64066	broad.mit.edu	37	11	102573489	102573489	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr11:102573489C>T	ENST00000260229.4	-	4	705	c.614G>A	c.(613-615)gGa>gAa	p.G205E		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	205					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G205E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CTCACCTGCTCCATCCTTGGT	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											93	101	98					11																	102573489		2203	4299	6502	102078699	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.614G>A	11.37:g.102573489C>T	ENSP00000260229:p.Gly205Glu		102078699	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	7.176	0.588575	0.13812	.	.	ENSG00000137675	ENST00000260229	T	0.19105	2.17	5.79	-0.0298	0.13917	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	3.224240	0.00531	N	0.000214	T	0.17874	0.0429	N	0.25825	0.765	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.29941	-0.9995	10	0.31617	T	0.26	.	10.4187	0.44338	0.0671:0.5236:0.3323:0.077	.	205	Q9H306	MMP27_HUMAN	E	205	ENSP00000260229:G205E	ENSP00000260229:G205E	G	-	2	0	MMP27	102078699	0.001000	0.12720	0.007000	0.13788	0.554000	0.35429	0.613000	0.24299	-0.189000	0.10482	-0.344000	0.07964	GGA		0.413	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		T	102573489	C	T	102573489	3	4	206	1	0	0	0	0	1	0	0	0	9664	855	30	2	955	2	MMP27	11	102573489	Missense_Mutation	SNP	C	TCGA-24-0975-01B-02W-0486-08		102573489	32433027	10	11910											
PFKM	5213	broad.mit.edu	37	12	48529115	48529115	+	Silent	SNP	C	C	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr12:48529115C>G	ENST00000312352.7	+	10	924	c.885C>G	c.(883-885)gtC>gtG	p.V295V	PFKM_ENST00000395233.2_Intron|PFKM_ENST00000551804.1_Intron|PFKM_ENST00000359794.5_Silent_p.V295V|PFKM_ENST00000340802.6_Silent_p.V366V|PFKM_ENST00000547587.1_Silent_p.V295V	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	295	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.V295V(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGTTACTGTCTTGGGGCATG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	12											136	114	122					12																	48529115		2203	4300	6503	46815382	SO:0001819	synonymous_variant	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.885C>G	12.37:g.48529115C>G			46815382	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	CCDS8760.1																																																																																				0.537	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		G	48529115	C	G	48529115	2	3	206	1	0	0	0	0	0	0	0	1	11765	900	32	3		3	PFKM	12	48529115	Silent	SNP	C	TCGA-24-0975-01B-02W-0486-08		48529115	85322780	11	11911											
PABPC3	5042	broad.mit.edu	37	13	25670542	25670542	+	Missense_Mutation	SNP	T	T	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr13:25670542T>G	ENST00000281589.3	+	1	243	c.206T>G	c.(205-207)cTg>cGg	p.L69R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	69	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.L69R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GAGCATGCTCTGGACACCATG	0.512																																																1	Substitution - Missense(1)	ovary(1)	13											83	74	77					13																	25670542		2203	4300	6503	24568542	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.206T>G	13.37:g.25670542T>G	ENSP00000281589:p.Leu69Arg		24568542	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619291	0.46736	.	.	ENSG00000151846	ENST00000281589	T	0.21734	1.99	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.36854	U	0.002362	T	0.33789	0.0875	M	0.78344	2.41	0.44345	D	0.997233	D	0.54397	0.966	P	0.57009	0.811	T	0.11591	-1.0581	10	0.87932	D	0	.	5.327	0.15913	0.0:1.0E-4:0.0:0.9999	.	69	Q9H361	PABP3_HUMAN	R	69	ENSP00000281589:L69R	ENSP00000281589:L69R	L	+	2	0	PABPC3	24568542	1.000000	0.71417	0.012000	0.15200	0.039000	0.13416	5.455000	0.66658	0.469000	0.27268	0.254000	0.18369	CTG		0.512	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25670542	T	G	25670542	3	3	206	1	0	0	0	0	1	0	0	0	11365	1580	55	5	208	5	PABPC3	13	25670542	Missense_Mutation	SNP	T	TCGA-24-0975-01B-02W-0486-08		25670542	89499336	12	11912											
GMPR2	51292	broad.mit.edu	37	14	24707478	24707478	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr14:24707478G>C	ENST00000355299.4	+	9	1185	c.724G>C	c.(724-726)Ggt>Cgt	p.G242R	GMPR2_ENST00000348719.7_Missense_Mutation_p.G242R|GMPR2_ENST00000559104.1_Missense_Mutation_p.G227R|GMPR2_ENST00000559910.1_Missense_Mutation_p.G209R|GMPR2_ENST00000557854.1_Missense_Mutation_p.G260R|GMPR2_ENST00000559836.1_Missense_Mutation_p.G242R|GMPR2_ENST00000420554.2_Missense_Mutation_p.G260R|GMPR2_ENST00000456667.3_Missense_Mutation_p.G214R|GMPR2_ENST00000399440.2_Missense_Mutation_p.G242R	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	242	GMP binding.		G -> D (in dbSNP:rs34354104).		GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.G242R(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		CGTGATGCTGGGTGGCATGCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	14											67	71	70					14																	24707478		2155	4259	6414	23777318	SO:0001583	missense	51292				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.724G>C	14.37:g.24707478G>C	ENSP00000347449:p.Gly242Arg		23777318	D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203665	0.95033	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.99897	4.91	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98294	1.0515	10	0.87932	D	0	3.1611	19.6509	0.95805	0.0:0.0:1.0:0.0	.	79;214;242;260;244;242	Q86SZ5;Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;.;GMPR2_HUMAN	R	242;242;260;242;242;214	ENSP00000347449:G242R;ENSP00000392859:G260R;ENSP00000382369:G242R;ENSP00000334409:G242R;ENSP00000405743:G214R	ENSP00000334409:G242R	G	+	1	0	GMPR2	23777318	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.864000	0.99589	2.941000	0.99782	0.655000	0.94253	GGT		0.542	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		C	24707478	G	C	24707478	3	2	206	1	0	0	0	0	1	0	0	0	6497	1232	43	3	808	3	GMPR2	14	24707478	Missense_Mutation	SNP	G	TCGA-24-0975-01B-02W-0486-08		24707478	82642062	13	11913											
EDC4	23644	broad.mit.edu	37	16	67913022	67913022	+	Missense_Mutation	SNP	A	A	G	rs370573849		TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr16:67913022A>G	ENST00000358933.5	+	12	1689	c.1450A>G	c.(1450-1452)Aat>Gat	p.N484D	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	484					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N484D(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CGAAGAGGAAAATGACAGCCT	0.587													A|||	1	0.000199681	0	0	5008	,	,		19625	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	16						A	ASP/ASN	0,4396		0,0,2198	42	40	41		1450	4.4	1	16		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	EDC4	NM_014329.3	23	0,1,6497	GG,GA,AA		0.0116,0.0,0.0077	benign	484/1402	67913022	1,12995	2198	4300	6498	66470523	SO:0001583	missense	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1450A>G	16.37:g.67913022A>G	ENSP00000351811:p.Asn484Asp		66470523	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	A	6.254	0.414925	0.11870	0.0	1.16E-4	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.53	4.41	0.53225	.	0.436377	0.28533	N	0.015001	T	0.17238	0.0414	N	0.03154	-0.405	0.30420	N	0.778255	B;B;B	0.24721	0.0;0.11;0.094	B;B;B	0.22152	0.001;0.038;0.016	T	0.14587	-1.0467	9	0.09084	T	0.74	-10.1088	9.8938	0.41306	0.9122:0.0:0.0878:0.0	.	416;103;484	B7Z7V8;Q6P2E9-2;Q6P2E9	.;.;EDC4_HUMAN	D	484;416	.	ENSP00000351811:N484D	N	+	1	0	EDC4	66470523	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.046000	0.71029	2.324000	0.78689	0.533000	0.62120	AAT		0.587	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		G	67913022	A	G	67913022	3	3	206	1	0	0	0	0	1	0	0	0	4908	14	1	4	1496	4	EDC4	16	67913022	Missense_Mutation	SNP	A	TCGA-24-0975-01B-02W-0486-08		67913022	22441731	14	11914											
RYR1	6261	broad.mit.edu	37	19	39063890	39063890	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr19:39063890A>T	ENST00000359596.3	+	96	14072	c.14072A>T	c.(14071-14073)gAg>gTg	p.E4691V	RYR1_ENST00000355481.4_Missense_Mutation_p.E4686V|RYR1_ENST00000360985.3_Missense_Mutation_p.E4686V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4691					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E4691V(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TACATCACGGAGCAGCCTGAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											110	92	98					19																	39063890		2203	4300	6503	43755730	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14072A>T	19.37:g.39063890A>T	ENSP00000352608:p.Glu4691Val		43755730	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.128562	0.37533	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97620	-4.46;-4.46;-4.45	4.52	4.52	0.55395	.	0.000000	0.64402	U	0.000002	D	0.98213	0.9409	M	0.81112	2.525	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.99160	1.0861	10	0.87932	D	0	.	13.6586	0.62352	1.0:0.0:0.0:0.0	.	4686;4691	P21817-2;P21817	.;RYR1_HUMAN	V	4691;4686;4686	ENSP00000352608:E4691V;ENSP00000347667:E4686V;ENSP00000354254:E4686V	ENSP00000347667:E4686V	E	+	2	0	RYR1	43755730	1.000000	0.71417	0.992000	0.48379	0.537000	0.34900	8.951000	0.93025	1.909000	0.55274	0.379000	0.24179	GAG		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39063890	A	T	39063890	3	4	206	1	0	0	0	0	1	0	0	0	13771	304	11	5	14454	5	RYR1	19	39063890	Missense_Mutation	SNP	A	TCGA-24-0975-01B-02W-0486-08		39063890	20065093	15	11915											
GPR34	2857	broad.mit.edu	37	X	41555953	41555953	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chrX:41555953C>G	ENST00000378142.4	+	3	1351	c.1067C>G	c.(1066-1068)aCt>aGt	p.T356S	CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.T356S|CASK_ENST00000378158.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	356					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T356S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTGAAAGCACTTCAGAATTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	X											56	49	52					X																	41555953		2203	4299	6502	41440897	SO:0001583	missense	2857			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.1067C>G	X.37:g.41555953C>G	ENSP00000367384:p.Thr356Ser		41440897	O95853	Missense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409192	0.42715	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.34667	1.35;1.35	5.83	5.83	0.93111	.	0.134585	0.49916	D	0.000130	T	0.30262	0.0759	L	0.32530	0.975	0.48762	D	0.999706	B	0.26483	0.15	B	0.19946	0.027	T	0.05818	-1.0862	10	0.19147	T	0.46	-21.4865	19.1239	0.93375	0.0:1.0:0.0:0.0	.	356	Q9UPC5	GPR34_HUMAN	S	356;356;309	ENSP00000367384:T356S;ENSP00000367378:T356S	ENSP00000367378:T356S	T	+	2	0	GPR34	41440897	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.211000	0.42825	2.467000	0.83353	0.591000	0.81541	ACT		0.368	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		G	41555953	C	G	41555953	3	3	206	1	0	0	0	0	1	0	0	0	6689	565	20	3	1069	3	GPR34	23	41555953	Missense_Mutation	SNP	C	TCGA-24-0975-01B-02W-0486-08		41555953	113714607	16	11916											
FAAH2	158584	broad.mit.edu	37	X	57473468	57473468	+	Silent	SNP	C	C	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chrX:57473468C>G	ENST00000374900.4	+	9	1344	c.1224C>G	c.(1222-1224)tcC>tcG	p.S408S	FAAH2_ENST00000491179.1_Intron	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	408						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.S408S(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CCATCCCTTCCATTGGTATGT	0.398										HNSCC(52;0.14)																																						1	Substitution - coding silent(1)	ovary(1)	X											107	76	86					X																	57473468		2203	4300	6503	57490193	SO:0001819	synonymous_variant	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1224C>G	X.37:g.57473468C>G			57490193	Q86VT2|Q96N98	Silent	SNP	ENST00000374900.4	37	CCDS14375.1																																																																																				0.398	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		G	57473468	C	G	57473468	2	3	206	1	0	0	0	0	0	0	0	1	5354	581	21	3		3	FAAH2	23	57473468	Silent	SNP	C	TCGA-24-0975-01B-02W-0486-08	15917515	57473468	97797092	17	11917											
TFDP3	51270	broad.mit.edu	37	X	132351861	132351861	+	Missense_Mutation	SNP	C	C	G	rs199687528		TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chrX:132351861C>G	ENST00000310125.4	-	1	515	c.427G>C	c.(427-429)Gct>Cct	p.A143P		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	143					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A83P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTGCTGGCAGCTCTGAACTTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											88	82	84					X																	132351861		2202	4299	6501	132179527	SO:0001583	missense	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.427G>C	X.37:g.132351861C>G	ENSP00000385461:p.Ala143Pro		132179527	Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	c	11.31	1.601016	0.28534	.	.	ENSG00000183434	ENST00000310125	T	0.23552	1.9	0.226	0.226	0.15353	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.27731	0.0682	L	0.59436	1.845	0.41238	D	0.986629	P	0.38148	0.62	P	0.46885	0.53	T	0.12578	-1.0542	9	0.44086	T	0.13	.	3.0675	0.06219	0.4798:0.5199:2.0E-4:1.0E-4	.	143	Q5H9I0	TFDP3_HUMAN	P	143	ENSP00000385461:A143P	ENSP00000385461:A143P	A	-	1	0	TFDP3	132179527	1.000000	0.71417	0.036000	0.18154	0.037000	0.13140	1.616000	0.36933	0.283000	0.22279	0.287000	0.19450	GCT		0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		G	132351861	C	G	132351861	3	3	206	1	0	0	0	0	1	0	0	0	15799	797	28	3	794	3	TFDP3	23	132351861	Missense_Mutation	SNP	C	TCGA-24-0975-01B-02W-0486-08	74878393	132351861	22918699	18	11918											
MASP2	10747	broad.mit.edu	37	1	11097845	11097845	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:11097845C>G	ENST00000400897.3	-	7	928	c.913G>C	c.(913-915)Gcg>Ccg	p.A305P		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	305	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A305P(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TTAGGTGGCGCCATCGGATAA	0.517											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(35;611 746 20780 22741 36496)											1	Substitution - Missense(1)	ovary(1)	1											122	118	119					1																	11097845		2203	4300	6503	11020432	SO:0001583	missense	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.913G>C	1.37:g.11097845C>G	ENSP00000383690:p.Ala305Pro	669	11020432	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992485	0.54041	.	.	ENSG00000009724	ENST00000400897	T	0.62941	-0.01	4.6	3.64	0.41730	Complement control module (2);Sushi/SCR/CCP (3);	0.233737	0.34507	N	0.003910	T	0.48804	0.1520	L	0.45470	1.425	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.41770	-0.9490	10	0.02654	T	1	.	12.6834	0.56934	0.0:0.835:0.1649:0.0	.	305	O00187	MASP2_HUMAN	P	305	ENSP00000383690:A305P	ENSP00000383690:A305P	A	-	1	0	MASP2	11020432	0.184000	0.23200	0.756000	0.31282	0.910000	0.53928	1.877000	0.39598	2.108000	0.64289	0.563000	0.77884	GCG		0.517	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		G	11097845	C	G	11097845	3	3	207	1	0	0	0	0	1	0	0	0	9323	739	26	3	1167	3	MASP2	1	11097845	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08		11097845	238152776	1	11919											
COL16A1	1307	broad.mit.edu	37	1	32118385	32118385	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:32118385C>A	ENST00000373672.3	-	71	5198	c.4682G>T	c.(4681-4683)gGc>gTc	p.G1561V	RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|COL16A1_ENST00000461217.1_5'Flank|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.G1561V|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1561	Collagen-like 8.|Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.G1561V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCCAGGGATGCCAGGGATGCC	0.627																																					Colon(143;498 1786 21362 25193 36625)											1	Substitution - Missense(1)	ovary(1)	1											27	29	28					1																	32118385		1911	4134	6045	31890972	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4682G>T	1.37:g.32118385C>A	ENSP00000362776:p.Gly1561Val		31890972	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684588	0.88639	.	.	ENSG00000084636	ENST00000373672;ENST00000271069	D;D	0.99353	-5.77;-5.77	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97898	1.0301	10	0.87932	D	0	.	18.3647	0.90386	0.0:1.0:0.0:0.0	.	1561;1559	Q07092;Q07092-2	COGA1_HUMAN;.	V	1561	ENSP00000362776:G1561V;ENSP00000271069:G1561V	ENSP00000271069:G1561V	G	-	2	0	COL16A1	31890972	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.338000	0.79269	2.723000	0.93209	0.591000	0.81541	GGC		0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		A	32118385	C	A	32118385	3	1	207	1	0	0	0	0	1	0	0	0	3673	739	26	3	136	3	COL16A1	1	32118385	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	21020540	32118385	217132236	2	11920											
INADL	10207	broad.mit.edu	37	1	62231957	62231957	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:62231957C>T	ENST00000371158.2	+	4	310	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	INADL_ENST00000316485.6_Missense_Mutation_p.H66Y	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	66					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.H66Y(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACAGCTCAACCATATACCCTC	0.333																																																1	Substitution - Missense(1)	ovary(1)	1											106	105	105					1																	62231957		2203	4300	6503	62004545	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.196C>T	1.37:g.62231957C>T	ENSP00000360200:p.His66Tyr		62004545	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	9.097	1.003100	0.19121	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12879	2.75;2.64	6.08	4.22	0.49857	L27 (1);	0.229933	0.36200	N	0.002739	T	0.10508	0.0257	L	0.50919	1.6	0.80722	D	1	B;B;B	0.15930	0.015;0.012;0.015	B;B;B	0.18561	0.022;0.007;0.015	T	0.08146	-1.0736	10	0.02654	T	1	.	8.1801	0.31305	0.0:0.745:0.0:0.255	.	66;66;66	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	Y	66	ENSP00000360200:H66Y;ENSP00000326199:H66Y	ENSP00000255202:H66Y	H	+	1	0	INADL	62004545	1.000000	0.71417	0.992000	0.48379	0.668000	0.39293	1.348000	0.33987	1.589000	0.49982	0.591000	0.81541	CAT		0.333	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		T	62231957	C	T	62231957	3	4	207	1	0	0	0	0	1	0	0	0	7731	594	21	2	206	2	INADL	1	62231957	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	30113572	62231957	187018664	3	11921											
FLG2	388698	broad.mit.edu	37	1	152327068	152327068	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:152327068C>A	ENST00000388718.5	-	3	3266	c.3194G>T	c.(3193-3195)gGa>gTa	p.G1065V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1065	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1065V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCATATTGTCCAAAACCAGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											299	299	299					1																	152327068		2203	4300	6503	150593692	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3194G>T	1.37:g.152327068C>A	ENSP00000373370:p.Gly1065Val		150593692	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313420	0.23908	.	.	ENSG00000143520	ENST00000388718	T	0.06849	3.25	4.32	4.32	0.51571	.	.	.	.	.	T	0.14141	0.0342	M	0.72894	2.215	0.19775	N	0.999953	D	0.76494	0.999	D	0.64042	0.921	T	0.02942	-1.1091	9	0.52906	T	0.07	.	12.3212	0.54985	0.0:1.0:0.0:0.0	.	1065	Q5D862	FILA2_HUMAN	V	1065	ENSP00000373370:G1065V	ENSP00000373370:G1065V	G	-	2	0	FLG2	150593692	0.000000	0.05858	0.009000	0.14445	0.011000	0.07611	-0.697000	0.05098	1.947000	0.56498	0.650000	0.86243	GGA		0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152327068	C	A	152327068	3	1	207	1	0	0	0	0	1	0	0	0	5923	855	30	3	3985	3	FLG2	1	152327068	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	90095111	152327068	96923553	4	11922											
ATP8B2	57198	broad.mit.edu	37	1	154315956	154315956	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:154315956T>C	ENST00000368489.3	+	17	1769	c.1769T>C	c.(1768-1770)cTc>cCc	p.L590P		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	576					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L590P(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGATCCGACTCTACTGCAAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											73	64	67					1																	154315956		2203	4300	6503	152582580	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1769T>C	1.37:g.154315956T>C	ENSP00000357475:p.Leu590Pro		152582580	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.928330	0.92389	.	.	ENSG00000143515	ENST00000368489	D	0.85088	-1.94	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	D	0.92061	0.7484	H	0.99336	4.52	0.80722	D	1	P	0.34892	0.474	B	0.42386	0.386	D	0.93727	0.7038	10	0.87932	D	0	.	14.8457	0.70259	0.0:0.0:0.0:1.0	.	590	P98198-3	.	P	590	ENSP00000357475:L590P	ENSP00000357475:L590P	L	+	2	0	ATP8B2	152582580	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	7.868000	0.87116	2.288000	0.76882	0.482000	0.46254	CTC		0.507	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		C	154315956	T	C	154315956	3	2	207	1	0	0	0	0	1	0	0	0	1195	1551	54	4	1965	4	ATP8B2	1	154315956	Missense_Mutation	SNP	T	TCGA-24-0979-01A-01W-0486-08	1988888	154315956	94934665	5	11923											
ARHGEF2	9181	broad.mit.edu	37	1	155921756	155921756	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:155921756T>C	ENST00000361247.4	-	17	2225	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.N754S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.N708S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.N681S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.N681S|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.N710S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	709					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N681S(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AATGGAGCCATTGAAGGTTCT	0.547																																					Melanoma(178;35 2768 6610 28839)											1	Substitution - Missense(1)	ovary(1)	1											62	61	62					1																	155921756		2203	4300	6503	154188380	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2126A>G	1.37:g.155921756T>C	ENSP00000354837:p.Asn709Ser		154188380	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438877	0.43326	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.63744	-0.05;0.07;0.07;-0.05;-0.06	5.13	5.13	0.70059	.	0.000000	0.46442	D	0.000286	T	0.60090	0.2242	M	0.72118	2.19	0.35997	D	0.837148	B;D;B	0.67145	0.077;0.996;0.02	B;P;B	0.54759	0.053;0.76;0.054	T	0.62661	-0.6807	10	0.28530	T	0.3	-24.2421	11.2579	0.49065	0.0:0.0:0.0:1.0	.	753;709;708	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	S	681;709;710;681;708	ENSP00000315325:N681S;ENSP00000354837:N709S;ENSP00000357298:N710S;ENSP00000357299:N681S;ENSP00000314787:N708S	ENSP00000314787:N708S	N	-	2	0	ARHGEF2	154188380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.538000	0.60650	2.146000	0.66826	0.533000	0.62120	AAT		0.547	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		C	155921756	T	C	155921756	3	2	207	1	0	0	0	0	1	0	0	0	903	1493	52	4	858	4	ARHGEF2	1	155921756	Missense_Mutation	SNP	T	TCGA-24-0979-01A-01W-0486-08	1605800	155921756	93328865	6	11924											
NHLH1	4807	broad.mit.edu	37	1	160340544	160340544	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:160340544T>C	ENST00000302101.5	+	2	469	c.23T>C	c.(22-24)aTg>aCg	p.M8T		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	8					cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.M8T(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGACACCATGGAGCTGGAC	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											17	22	20					1																	160340544		2190	4285	6475	158607168	SO:0001583	missense	4807			BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"Basic helix-loop-helix proteins"	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.23T>C	1.37:g.160340544T>C	ENSP00000302189:p.Met8Thr		158607168		Missense_Mutation	SNP	ENST00000302101.5	37	CCDS1204.1	.	.	.	.	.	.	.	.	.	.	T	0.766	-0.767465	0.02974	.	.	ENSG00000171786	ENST00000302101	D	0.95103	-3.61	4.05	2.92	0.33932	.	0.388550	0.22214	N	0.063057	T	0.63082	0.2481	N	0.02539	-0.55	0.26580	N	0.9734	B	0.02656	0.0	B	0.01281	0.0	T	0.60677	-0.7216	10	0.07325	T	0.83	-13.921	5.4804	0.16721	0.0:0.3134:0.0:0.6865	.	8	Q02575	HEN1_HUMAN	T	8	ENSP00000302189:M8T	ENSP00000302189:M8T	M	+	2	0	NHLH1	158607168	0.364000	0.24997	0.985000	0.45067	0.990000	0.78478	3.046000	0.49846	0.715000	0.32103	0.533000	0.62120	ATG		0.662	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		C	160340544	T	C	160340544	3	2	207	1	0	0	0	0	1	0	0	0	10403	1464	51	4	25	4	NHLH1	1	160340544	Missense_Mutation	SNP	T	TCGA-24-0979-01A-01W-0486-08	4418788	160340544	88910077	7	11925											
SCYL3	57147	broad.mit.edu	37	1	169825046	169825046	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:169825046C>G	ENST00000367770.1	-	11	1412	c.1365G>C	c.(1363-1365)ttG>ttC	p.L455F	SCYL3_ENST00000367772.4_Missense_Mutation_p.L455F|SCYL3_ENST00000367771.6_Intron			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	455					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGGGTTCTCCAAGATTGGCG	0.423																																																0			1											91	85	87					1																	169825046		2203	4300	6503	168091670	SO:0001583	missense	57147			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1365G>C	1.37:g.169825046C>G	ENSP00000356744:p.Leu455Phe		168091670	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956752	0.34565	.	.	ENSG00000000457	ENST00000367772;ENST00000367770	T;T	0.16743	2.32;2.32	4.09	2.11	0.27256	.	1.027090	0.07716	N	0.942838	T	0.04543	0.0124	L	0.44542	1.39	0.19300	N	0.999977	P	0.41748	0.761	B	0.35413	0.202	T	0.37103	-0.9720	10	0.30078	T	0.28	-0.0126	6.1169	0.20132	0.0:0.7532:0.0:0.2468	.	455	Q8IZE3	PACE1_HUMAN	F	455	ENSP00000356746:L455F;ENSP00000356744:L455F	ENSP00000356744:L455F	L	-	3	2	SCYL3	168091670	0.067000	0.21026	0.229000	0.23960	0.177000	0.22998	0.642000	0.24735	0.612000	0.30071	-0.355000	0.07637	TTG		0.423	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		G	169825046	C	G	169825046	3	3	207	1	0	0	0	0	1	0	0	0	13952	593	21	3	875	3	SCYL3	1	169825046	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	9484502	169825046	79425575	8	11926											
PLD5	200150	broad.mit.edu	37	1	242253345	242253345	+	Silent	SNP	T	T	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:242253345T>G	ENST00000536534.2	-	10	1663	c.1422A>C	c.(1420-1422)gcA>gcC	p.A474A	PLD5_ENST00000427495.1_Silent_p.A412A|PLD5_ENST00000442594.2_Silent_p.A382A			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	474						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.A382A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TCCTCACATCTGCCTGGTTGA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	1											177	163	168					1																	242253345		2203	4300	6503	240319968	SO:0001819	synonymous_variant	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1422A>C	1.37:g.242253345T>G			240319968	A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	CCDS1621.2																																																																																				0.418	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		G	242253345	T	G	242253345	2	3	207	1	0	0	0	0	0	0	0	1	12049	1567	55	5		5	PLD5	1	242253345	Silent	SNP	T	TCGA-24-0979-01A-01W-0486-08	72428299	242253345	6997276	9	11927											
OR2W3	343171	broad.mit.edu	37	1	248059394	248059394	+	Missense_Mutation	SNP	G	G	A	rs12083024	byFrequency	TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr1:248059394G>A	ENST00000360358.3	+	1	506	c.506G>A	c.(505-507)tGt>tAt	p.C169Y	OR2W3_ENST00000537741.1_Missense_Mutation_p.C169Y	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	169			C -> S (in dbSNP:rs12083024).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C169Y(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTACCCCGCTGTGGGCACCAC	0.647																																																1	Substitution - Missense(1)	ovary(1)	1											100	78	85					1																	248059394		2203	4300	6503	246126017	SO:0001583	missense	343171			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.506G>A	1.37:g.248059394G>A	ENSP00000353516:p.Cys169Tyr		246126017	Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622609	0.46840	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00245	8.45;8.45	5.28	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00784	0.0026	H	0.94847	3.59	0.39419	D	0.966893	D	0.89917	1.0	D	0.85130	0.997	T	0.55915	-0.8065	10	0.87932	D	0	.	11.3607	0.49642	0.1473:0.0:0.8527:0.0	.	169	Q7Z3T1	OR2W3_HUMAN	Y	169	ENSP00000445853:C169Y;ENSP00000353516:C169Y	ENSP00000353516:C169Y	C	+	2	0	OR2W3	246126017	1.000000	0.71417	0.944000	0.38274	0.434000	0.31775	4.678000	0.61641	0.818000	0.34468	0.603000	0.83216	TGT		0.647	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		A	248059394	G	A	248059394	3	1	207	1	0	0	0	0	1	0	0	0	11033	1377	48	2	508	2	OR2W3	1	248059394	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	5806049	248059394	1191227	10	11928											
APOB	338	broad.mit.edu	37	2	21226147	21226147	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr2:21226147A>T	ENST00000233242.1	-	29	12274	c.12147T>A	c.(12145-12147)gaT>gaA	p.D4049E	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4049					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.D4049E(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTTCCTCATCAGATTCCC	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											219	243	235					2																	21226147		2203	4300	6503	21079652	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12147T>A	2.37:g.21226147A>T	ENSP00000233242:p.Asp4049Glu		21079652	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386157	0.25031	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.27402	1.67	5.75	3.33	0.38152	.	0.499835	0.17905	N	0.158067	T	0.25005	0.0607	L	0.48642	1.525	0.22737	N	0.998798	B	0.09022	0.002	B	0.08055	0.003	T	0.18587	-1.0332	10	0.27785	T	0.31	.	8.9938	0.36039	0.8082:0.1263:0.0655:0.0	.	4049	P04114	APOB_HUMAN	E	4049	ENSP00000233242:D4049E	ENSP00000233242:D4049E	D	-	3	2	APOB	21079652	0.100000	0.21855	0.001000	0.08648	0.235000	0.25334	2.629000	0.46485	0.513000	0.28278	-0.256000	0.11100	GAT		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21226147	A	T	21226147	3	4	207	1	0	0	0	0	1	0	0	0	785	214	8	5	1548	5	APOB	2	21226147	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08		21226147	221973226	11	11929											
MTIF2	4528	broad.mit.edu	37	2	55473531	55473531	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr2:55473531C>A	ENST00000263629.4	-	10	1363	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y	MTIF2_ENST00000403721.1_Missense_Mutation_p.D350Y|MTIF2_ENST00000394600.3_Missense_Mutation_p.D350Y	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	350					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D350Y(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCATTGGGATCTGCTTTCAAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											172	158	163					2																	55473531		2203	4300	6503	55327035	SO:0001583	missense	4528			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1048G>T	2.37:g.55473531C>A	ENSP00000263629:p.Asp350Tyr		55327035	D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649691	0.87958	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823;ENST00000535023	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.33	5.33	0.75918	.	0.105696	0.64402	D	0.000005	T	0.71953	0.3401	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76105	-0.3081	10	0.87932	D	0	-17.6566	19.0262	0.92932	0.0:1.0:0.0:0.0	.	350	P46199	IF2M_HUMAN	Y	350;350;350;70;350	ENSP00000384481:D350Y;ENSP00000263629:D350Y;ENSP00000378099:D350Y;ENSP00000403492:D70Y	ENSP00000263629:D350Y	D	-	1	0	MTIF2	55327035	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.268000	0.78473	2.505000	0.84491	0.655000	0.94253	GAT		0.388	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		A	55473531	C	A	55473531	3	1	207	1	0	0	0	0	1	0	0	0	9934	913	32	3	1163	3	MTIF2	2	55473531	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	34247384	55473531	187725842	12	11930											
EIF2AK3	9451	broad.mit.edu	37	2	88890440	88890440	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr2:88890440C>G	ENST00000303236.3	-	5	1199	c.898G>C	c.(898-900)Gaa>Caa	p.E300Q	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.E149Q	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	300					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.E299Q(1)		ovary(3)	3						GCTTCCTGTTCTTCCACATCT	0.418																																					GBM(138;671 1851 16235 39058 45249)											1	Substitution - Missense(1)	ovary(1)	2											155	149	151					2																	88890440		2203	4300	6503	88671555	SO:0001583	missense	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.898G>C	2.37:g.88890440C>G	ENSP00000307235:p.Glu300Gln		88671555	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014262	0.54468	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74526	-0.73;-0.68;-0.85	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.253078	0.45126	D	0.000385	T	0.75466	0.3853	M	0.63843	1.955	0.35879	D	0.828836	P	0.41475	0.751	B	0.39503	0.301	T	0.82088	-0.0630	10	0.66056	D	0.02	-29.7421	20.2147	0.98293	0.0:1.0:0.0:0.0	.	300	Q9NZJ5	E2AK3_HUMAN	Q	149;300;149;179	ENSP00000408325:E149Q;ENSP00000307235:E300Q;ENSP00000412076:E179Q	ENSP00000307235:E300Q	E	-	1	0	EIF2AK3	88671555	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.964000	0.49192	2.785000	0.95823	0.591000	0.81541	GAA		0.418	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		G	88890440	C	G	88890440	3	3	207	1	0	0	0	0	1	0	0	0	4998	922	32	3	2504	3	EIF2AK3	2	88890440	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	33416909	88890440	154308933	13	11931											
GCC2	9648	broad.mit.edu	37	2	109087719	109087719	+	Missense_Mutation	SNP	T	T	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr2:109087719T>G	ENST00000309863.6	+	6	2648	c.1934T>G	c.(1933-1935)gTa>gGa	p.V645G		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	645					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.V645G(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAACAAAAGGTAAATGAATTA	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											81	95	90					2																	109087719		2203	4298	6501	108454151	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1934T>G	2.37:g.109087719T>G	ENSP00000307939:p.Val645Gly		108454151	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553028	0.27739	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.35236	1.32	5.62	5.62	0.85841	.	0.192707	0.34314	N	0.004065	T	0.34337	0.0894	M	0.65975	2.015	0.30837	N	0.736084	P	0.42785	0.79	B	0.36719	0.231	T	0.49753	-0.8906	10	0.37606	T	0.19	.	11.2149	0.48821	0.0:0.0715:0.0:0.9285	.	645	Q8IWJ2	GCC2_HUMAN	G	645;608;390	ENSP00000307939:V645G	ENSP00000307939:V645G	V	+	2	0	GCC2	108454151	0.027000	0.19231	0.987000	0.45799	0.931000	0.56810	0.956000	0.29202	2.260000	0.74910	0.528000	0.53228	GTA		0.328	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		G	109087719	T	G	109087719	3	3	207	1	0	0	0	0	1	0	0	0	6286	1638	57	5	1956	5	GCC2	2	109087719	Missense_Mutation	SNP	T	TCGA-24-0979-01A-01W-0486-08	20197279	109087719	134111654	14	11932											
IL1F9	56300	broad.mit.edu	37	2	113742455	113742455	+	Silent	SNP	C	C	A	rs199911001	byFrequency	TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr2:113742455C>A	ENST00000259205.4	+	5	408	c.339C>A	c.(337-339)ccC>ccA	p.P113P	IL36G_ENST00000376489.2_Silent_p.P78P	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	113					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)		p.P113P(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AACCCGAGCCCGTGAAACCCT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	2											142	130	134					2																	113742455		2203	4300	6503	113458926	SO:0001819	synonymous_variant	56300			AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"Interleukins and interleukin receptors"	15741	protein-coding gene	gene with protein product	"interleukin-1 homolog 1", "interleukin 1-related protein 2", "interleukin-1 epsilon"	605542	"interleukin 1 family, member 9"	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.339C>A	2.37:g.113742455C>A			113458926	Q56B91|Q6UVX7|Q7RTZ9	Silent	SNP	ENST00000259205.4	37	CCDS2108.1																																																																																				0.502	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		A	113742455	C	A	113742455	2	1	207	1	0	0	0	0	0	0	0	1	7657	639	23	3		3	IL1F9	2	113742455	Silent	SNP	C	TCGA-24-0979-01A-01W-0486-08	4654736	113742455	129456918	15	11933											
MBD5	55777	broad.mit.edu	37	2	149247144	149247144	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr2:149247144G>T	ENST00000407073.1	+	12	4241	c.3244G>T	c.(3244-3246)Gat>Tat	p.D1082Y	MBD5_ENST00000404807.1_Missense_Mutation_p.D1315Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1082					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.D1082Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGCCCAGGTGATGCTTCCGT	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											154	139	144					2																	149247144		2203	4300	6503	148963614	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3244G>T	2.37:g.149247144G>T	ENSP00000386049:p.Asp1082Tyr		148963614	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127428	0.56721	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.22134	1.97;1.97	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000005	T	0.32255	0.0823	N	0.19112	0.55	0.50171	D	0.999855	D;D	0.71674	0.998;0.997	P;P	0.61003	0.882;0.882	T	0.06481	-1.0824	10	0.87932	D	0	-10.1817	20.3593	0.98849	0.0:0.0:1.0:0.0	.	1315;1082	E9PHH0;Q9P267	.;MBD5_HUMAN	Y	1082;1315	ENSP00000386049:D1082Y;ENSP00000384672:D1315Y	ENSP00000384672:D1315Y	D	+	1	0	MBD5	148963614	.	.	0.991000	0.47740	0.997000	0.91878	.	.	2.822000	0.97130	0.557000	0.71058	GAT		0.498	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			T	149247144	G	T	149247144	3	4	207	1	0	0	0	0	1	0	0	0	9347	1290	45	3	3270	3	MBD5	2	149247144	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	35504689	149247144	93952229	16	11934											
PIKFYVE	200576	broad.mit.edu	37	2	209200596	209200596	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr2:209200596A>T	ENST00000264380.4	+	26	4494	c.4336A>T	c.(4336-4338)Aaa>Taa	p.K1446*	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1446					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.K1446*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAGAGAGGAAAAAATGGAAGA	0.264																																																1	Substitution - Nonsense(1)	ovary(1)	2											54	58	57					2																	209200596		2198	4287	6485	208908841	SO:0001587	stop_gained	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4336A>T	2.37:g.209200596A>T	ENSP00000264380:p.Lys1446*		208908841	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	44	10.633382	0.99441	.	.	ENSG00000115020	ENST00000264380	.	.	.	5.01	5.01	0.66863	.	0.052393	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-18.3759	14.6715	0.68948	1.0:0.0:0.0:0.0	.	.	.	.	X	1446	.	ENSP00000264380:K1446X	K	+	1	0	PIKFYVE	208908841	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.647000	0.91057	2.016000	0.59253	0.379000	0.24179	AAA		0.264	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		T	209200596	A	T	209200596	4	4	207	1	0	0	0	0	0	1	0	0	11924	15	1	5	4445	5	PIKFYVE	2	209200596	Nonsense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	59953452	209200596	33998777	17	11935											
SPHKAP	80309	broad.mit.edu	37	2	228881409	228881409	+	Silent	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr2:228881409C>T	ENST00000392056.3	-	7	4207	c.4161G>A	c.(4159-4161)ttG>ttA	p.L1387L	SPHKAP_ENST00000344657.5_Silent_p.L1387L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1387						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.L1387L(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGTTTTGCTCAAAGATGACA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	2											84	89	87					2																	228881409		2203	4300	6503	228589653	SO:0001819	synonymous_variant	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4161G>A	2.37:g.228881409C>T			228589653	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228881409	C	T	228881409	2	4	207	1	0	0	0	0	0	0	0	1	15050	825	29	2		2	SPHKAP	2	228881409	Silent	SNP	C	TCGA-24-0979-01A-01W-0486-08	19680813	228881409	14317964	18	11936											
GRM7	2917	broad.mit.edu	37	3	7456806	7456806	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr3:7456806C>T	ENST00000357716.4	+	5	1404	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	GRM7_ENST00000402647.2_Missense_Mutation_p.T377M|GRM7_ENST00000389336.4_Missense_Mutation_p.T377M|GRM7_ENST00000403881.1_Missense_Mutation_p.T377M|GRM7_ENST00000486284.1_Missense_Mutation_p.T377M	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	377					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.T377M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGCAAGTTGACGATTAGTGGG	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											108	99	102					3																	7456806		2203	4300	6503	7431806	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1130C>T	3.37:g.7456806C>T	ENSP00000350348:p.Thr377Met		7431806	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228439	0.58777	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.184921	0.49305	D	0.000148	D	0.92996	0.7771	M	0.69185	2.1	0.48901	D	0.999729	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.83275	0.994;0.996;0.84	D	0.92570	0.6065	10	0.59425	D	0.04	.	18.981	0.92755	0.0:1.0:0.0:0.0	.	377;377;377	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	M	377;377;377;377;377;377;377;34	ENSP00000350348:T377M;ENSP00000417536:T377M;ENSP00000373987:T377M;ENSP00000385664:T377M;ENSP00000384585:T377M;ENSP00000395035:T34M	ENSP00000350348:T377M	T	+	2	0	GRM7	7431806	0.999000	0.42202	0.991000	0.47740	0.990000	0.78478	5.241000	0.65384	2.902000	0.99343	0.650000	0.86243	ACG		0.413	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		T	7456806	C	T	7456806	3	4	207	1	0	0	0	0	1	0	0	0	6802	536	19	1	1148	1	GRM7	3	7456806	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08		7456806	190565624	19	11937											
FGD5	152273	broad.mit.edu	37	3	14862160	14862160	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr3:14862160G>C	ENST00000285046.5	+	1	1692	c.1582G>C	c.(1582-1584)Ggg>Cgg	p.G528R	FGD5_ENST00000543601.1_Missense_Mutation_p.G287R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	528					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.G287R(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTCATTGGAGGGGAAGCCCTT	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											21	24	23					3																	14862160		1947	4134	6081	14837164	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1582G>C	3.37:g.14862160G>C	ENSP00000285046:p.Gly528Arg		14837164	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690745	0.29962	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.77877	-1.13;-0.89	4.83	4.83	0.62350	.	0.109458	0.40640	N	0.001054	T	0.74129	0.3676	M	0.67953	2.075	0.36685	D	0.879286	P;P	0.45428	0.476;0.858	B;B	0.39379	0.172;0.298	T	0.82238	-0.0556	10	0.72032	D	0.01	-30.032	11.4534	0.50167	0.0823:0.0:0.9177:0.0	.	287;528	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	R	528;287	ENSP00000285046:G528R;ENSP00000445949:G287R	ENSP00000285046:G528R	G	+	1	0	FGD5	14837164	1.000000	0.71417	0.985000	0.45067	0.065000	0.16274	3.508000	0.53378	2.246000	0.74042	0.650000	0.86243	GGG		0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		C	14862160	G	C	14862160	3	2	207	1	0	0	0	0	1	0	0	0	5836	1232	43	3	1584	3	FGD5	3	14862160	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	7405354	14862160	183160270	20	11938											
PARP15	165631	broad.mit.edu	37	3	122354024	122354024	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr3:122354024G>A	ENST00000464300.2	+	11	1796	c.1730G>A	c.(1729-1731)aGt>aAt	p.S577N	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.S274N|PARP15_ENST00000310366.4_Missense_Mutation_p.S343N|PARP15_ENST00000483793.1_Missense_Mutation_p.S382N	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	577	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S343N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TTTAATAGAAGTTGTGCTGGG	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											73	65	68					3																	122354024		2203	4300	6503	123836714	SO:0001583	missense	165631			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1730G>A	3.37:g.122354024G>A	ENSP00000417214:p.Ser577Asn		123836714	J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	G	9.012	0.982807	0.18889	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.03	2.03	0.26663	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.33059	0.0850	M	0.82056	2.57	0.44079	D	0.99683	B;B;D;D;P	0.71674	0.075;0.307;0.998;0.975;0.674	B;B;P;P;B	0.62740	0.086;0.245;0.906;0.71;0.38	T	0.15321	-1.0441	9	0.52906	T	0.07	.	11.1205	0.48287	0.0:0.0:0.6681:0.3319	.	274;343;324;382;555	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	N	577;382;324;343;274	ENSP00000417214:S577N;ENSP00000417785:S382N;ENSP00000308436:S343N;ENSP00000419488:S274N	ENSP00000308436:S343N	S	+	2	0	PARP15	123836714	1.000000	0.71417	0.035000	0.18076	0.045000	0.14185	5.234000	0.65343	0.867000	0.35654	0.655000	0.94253	AGT		0.413	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		A	122354024	G	A	122354024	3	1	207	1	0	0	0	0	1	0	0	0	11459	1029	36	2	1841	2	PARP15	3	122354024	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	107491864	122354024	75668406	21	11939											
PARP14	54625	broad.mit.edu	37	3	122422732	122422732	+	Silent	SNP	A	A	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr3:122422732A>T	ENST00000474629.2	+	7	3491	c.3225A>T	c.(3223-3225)acA>acT	p.T1075T		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1075	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T912T(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCATGGGCACAGTGCTCAAAA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	3											134	140	138					3																	122422732		2075	4214	6289	123905422	SO:0001819	synonymous_variant	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3225A>T	3.37:g.122422732A>T			123905422	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																				0.537	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		T	122422732	A	T	122422732	2	4	207	1	0	0	0	0	0	0	0	1	11458	175	7	5		5	PARP14	3	122422732	Silent	SNP	A	TCGA-24-0979-01A-01W-0486-08	68708	122422732	75599698	22	11940											
RPN1	6184	broad.mit.edu	37	3	128344411	128344411	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr3:128344411A>G	ENST00000296255.3	-	8	1409	c.1361T>C	c.(1360-1362)aTc>aCc	p.I454T	RPN1_ENST00000490166.1_5'Flank|RPN1_ENST00000497289.1_Missense_Mutation_p.I282T	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	454					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)	p.I454T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AACATAGATGATAACGGTGAA	0.517			T	EVI1	AML																																		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	1	Substitution - Missense(1)	ovary(1)	3											198	191	194					3																	128344411		2203	4300	6503	129827101	SO:0001583	missense	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1361T>C	3.37:g.128344411A>G	ENSP00000296255:p.Ile454Thr		129827101	B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663651	0.88251	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	M	0.90759	3.145	0.80722	D	1	D	0.59767	0.986	D	0.68039	0.955	D	0.87427	0.2386	9	0.62326	D	0.03	-14.6467	15.9839	0.80133	1.0:0.0:0.0:0.0	.	454	P04843	RPN1_HUMAN	T	454;282;225;428	.	ENSP00000296255:I454T	I	-	2	0	RPN1	129827101	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	8.799000	0.91895	2.171000	0.68590	0.482000	0.46254	ATC		0.517	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		G	128344411	A	G	128344411	3	3	207	1	0	0	0	0	1	0	0	0	13610	333	12	4	474	4	RPN1	3	128344411	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	5921679	128344411	69678019	23	11941											
KIAA0232	9778	broad.mit.edu	37	4	6862992	6862992	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr4:6862992G>T	ENST00000307659.5	+	7	1338	c.883G>T	c.(883-885)Gca>Tca	p.A295S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.A295S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	295							ATP binding (GO:0005524)	p.A295S(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CTCCAGTGAAGCAGGCTCAAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	4											56	56	56					4																	6862992		1950	4140	6090	6913893	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.883G>T	4.37:g.6862992G>T	ENSP00000303928:p.Ala295Ser		6913893	A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448067	0.84101	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.67	5.67	0.87782	.	0.103333	0.64402	D	0.000003	T	0.63943	0.2554	M	0.64997	1.995	0.58432	D	0.999999	P	0.39326	0.668	B	0.37601	0.254	T	0.68530	-0.5384	9	0.72032	D	0.01	-11.7693	19.7706	0.96363	0.0:0.0:1.0:0.0	.	295	Q92628	K0232_HUMAN	S	295	.	ENSP00000303928:A295S	A	+	1	0	KIAA0232	6913893	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	9.379000	0.97198	2.697000	0.92050	0.655000	0.94253	GCA		0.448	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		T	6862992	G	T	6862992	3	4	207	1	0	0	0	0	1	0	0	0	8163	971	34	3	901	3	KIAA0232	4	6862992	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08		6862992	184291284	24	11942											
HERC5	51191	broad.mit.edu	37	4	89425453	89425453	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr4:89425453C>T	ENST00000264350.3	+	21	2806	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	HERC5_ENST00000508159.1_Missense_Mutation_p.R523W	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	885	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R885W(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGAAGAATTTCGGAGAGGATT	0.323																																					Esophageal Squamous(39;887 1012 34045 50514)											1	Substitution - Missense(1)	ovary(1)	4											77	82	80					4																	89425453		2203	4299	6502	89644476	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2653C>T	4.37:g.89425453C>T	ENSP00000264350:p.Arg885Trp		89644476	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096753	0.56075	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.51325	0.71;0.71	4.62	3.77	0.43336	HECT (4);	0.316302	0.21246	N	0.077721	T	0.56016	0.1957	L	0.54965	1.715	0.24700	N	0.993264	D	0.69078	0.997	P	0.61658	0.892	T	0.46233	-0.9206	10	0.56958	D	0.05	.	7.7916	0.29123	0.1856:0.635:0.1794:0.0	.	885	Q9UII4	HERC5_HUMAN	W	885;523	ENSP00000264350:R885W;ENSP00000424129:R523W	ENSP00000264350:R885W	R	+	1	2	HERC5	89644476	0.492000	0.26027	1.000000	0.80357	0.738000	0.42128	0.046000	0.14035	1.162000	0.42619	-0.165000	0.13383	CGG		0.323	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		T	89425453	C	T	89425453	3	4	207	1	0	0	0	0	1	0	0	0	7061	875	31	1	2735	1	HERC5	4	89425453	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	82562461	89425453	101728823	25	11943											
MAML3	55534	broad.mit.edu	37	4	140811328	140811328	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr4:140811328G>C	ENST00000509479.2	-	2	2118	c.1262C>G	c.(1261-1263)cCa>cGa	p.P421R	MAML3_ENST00000327122.5_Missense_Mutation_p.P265R|MAML3_ENST00000398940.1_5'Flank	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)									p.P421R(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGCTTGGTTTGGAGTTTGAGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	4											116	113	114					4																	140811328		2100	4238	6338	141030778	SO:0001583	missense	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1262C>G	4.37:g.140811328G>C	ENSP00000421180:p.Pro421Arg		141030778		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625264	0.66901	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.30182	1.54	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54262	-0.8320	10	0.56958	D	0.05	.	19.7207	0.96142	0.0:0.0:1.0:0.0	.	421	Q96JK9	MAML3_HUMAN	R	421;265	ENSP00000421180:P421R	ENSP00000313316:P265R	P	-	2	0	MAML3	141030778	1.000000	0.71417	0.997000	0.53966	0.775000	0.43874	9.034000	0.93747	2.647000	0.89833	0.650000	0.86243	CCA		0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			C	140811328	G	C	140811328	3	2	207	1	0	0	0	0	1	0	0	0	9207	1348	47	3	2162	3	MAML3	4	140811328	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	51385875	140811328	50342948	26	11944											
NSA2	10412	broad.mit.edu	37	5	74066518	74066518	+	Silent	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr5:74066518T>C	ENST00000296802.5	+	4	774	c.405T>C	c.(403-405)gtT>gtC	p.V135V	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	135	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.V135V(1)		breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						TATTAAAAGTTATTCGAACAG	0.363																																																1	Substitution - coding silent(1)	ovary(1)	5											84	85	85					5																	74066518		2203	4300	6503	74102274	SO:0001819	synonymous_variant	10412			AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"hairy cell leukemia protein 1", "TGF beta-inducible nuclear protein 1"	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.405T>C	5.37:g.74066518T>C			74102274		Silent	SNP	ENST00000296802.5	37	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	T	10.00	1.233338	0.22626	.	.	ENSG00000164346	ENST00000515524	.	.	.	5.63	-1.8	0.07907	.	.	.	.	.	T	0.48077	0.1480	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35151	-0.9800	4	.	.	.	.	4.728	0.12950	0.0989:0.1415:0.5038:0.2558	.	.	.	.	H	44	.	.	Y	+	1	0	NSA2	74102274	0.997000	0.39634	0.972000	0.41901	0.953000	0.61014	0.371000	0.20450	-0.423000	0.07394	0.528000	0.53228	TAT		0.363	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		C	74066518	T	C	74066518	2	2	207	1	0	0	0	0	0	0	0	1	10668	1741	61	4		4	NSA2	5	74066518	Silent	SNP	T	TCGA-24-0979-01A-01W-0486-08		74066518	106848742	27	11945											
POLK	51426	broad.mit.edu	37	5	74865203	74865203	+	Silent	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr5:74865203T>C	ENST00000241436.4	+	4	466	c.294T>C	c.(292-294)aaT>aaC	p.N98N	POLK_ENST00000504026.1_Silent_p.N98N|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Silent_p.N8N|POLK_ENST00000515295.1_Silent_p.N98N|POLK_ENST00000352007.5_Silent_p.N98N|POLK_ENST00000508526.1_Silent_p.N98N	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	98					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.N98N(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAAGCCGAAATTTGAGCAATA	0.338								DNA polymerases (catalytic subunits)																																								1	Substitution - coding silent(1)	ovary(1)	5											94	89	91					5																	74865203		2203	4300	6503	74900959	SO:0001819	synonymous_variant	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.294T>C	5.37:g.74865203T>C			74900959	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Silent	SNP	ENST00000241436.4	37	CCDS4030.1																																																																																				0.338	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		C	74865203	T	C	74865203	2	2	207	1	0	0	0	0	0	0	0	1	12204	1490	52	4		4	POLK	5	74865203	Silent	SNP	T	TCGA-24-0979-01A-01W-0486-08	798685	74865203	106050057	28	11946											
GABRA6	2559	broad.mit.edu	37	5	161117309	161117309	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr5:161117309A>G	ENST00000274545.5	+	7	1209	c.776A>G	c.(775-777)cAg>cGg	p.Q259R	GABRA6_ENST00000523217.1_Missense_Mutation_p.Q249R|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	259					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.Q259R(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)	ATTCTTTCCCAGGTGTCTTTC	0.388										TCGA Ovarian(5;0.080)																																						1	Substitution - Missense(1)	ovary(1)	5											165	153	157					5																	161117309		2203	4300	6503	161049887	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.776A>G	5.37:g.161117309A>G	ENSP00000274545:p.Gln259Arg		161049887	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.191633	0.78902	.	.	ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000523691	D;D;D	0.83914	-1.78;-1.78;-1.78	5.31	5.31	0.75309	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91140	0.7210	M	0.80028	2.48	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.92334	0.5876	10	0.72032	D	0.01	.	15.2733	0.73723	1.0:0.0:0.0:0.0	.	259	Q16445	GBRA6_HUMAN	R	259;249;179	ENSP00000274545:Q259R;ENSP00000430527:Q249R;ENSP00000427989:Q179R	ENSP00000274545:Q259R	Q	+	2	0	GABRA6	161049887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.016000	0.59253	0.533000	0.62120	CAG		0.388	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			G	161117309	A	G	161117309	3	3	207	1	0	0	0	0	1	0	0	0	6165	188	7	4	802	4	GABRA6	5	161117309	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	86252106	161117309	19797951	29	11947											
ODZ2	57451	broad.mit.edu	37	5	167674817	167674817	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr5:167674817C>G	ENST00000518659.1	+	27	6912	c.6873C>G	c.(6871-6873)aaC>aaG	p.N2291K	TENM2_ENST00000519204.1_Missense_Mutation_p.N2170K|TENM2_ENST00000520394.1_Missense_Mutation_p.N2052K|TENM2_ENST00000403607.2_Missense_Mutation_p.N2115K|TENM2_ENST00000545108.1_Missense_Mutation_p.N2290K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2291					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.N2124K(1)									GAGCCTACAACAAGGCCAGCG	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											84	86	85					5																	167674817		2019	4174	6193	167607395	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6873C>G	5.37:g.167674817C>G	ENSP00000429430:p.Asn2291Lys		167607395	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	12.05	1.820600	0.32145	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89343	-2.02;-2.01;-2.11;-2.48;-2.5	5.44	4.57	0.56435	.	0.120909	0.85682	D	0.000000	D	0.85622	0.5739	M	0.72894	2.215	0.42943	D	0.994357	P;P;P	0.46142	0.68;0.552;0.873	B;B;B	0.38755	0.281;0.146;0.164	D	0.83937	0.0309	10	0.39692	T	0.17	.	8.4152	0.32668	0.0:0.7682:0.0:0.2318	.	2290;2291;2052	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	2291;2290;2170;2052;2115	ENSP00000429430:N2291K;ENSP00000438635:N2290K;ENSP00000428964:N2170K;ENSP00000427874:N2052K;ENSP00000384905:N2115K	ENSP00000384905:N2115K	N	+	3	2	ODZ2	167607395	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.719000	0.38011	1.298000	0.44778	0.561000	0.74099	AAC		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		G	167674817	C	G	167674817	3	3	207	1	0	0	0	0	1	0	0	0	10835	477	17	3	6952	3	ODZ2	5	167674817	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	6557508	167674817	13240443	30	11948											
PANK3	79646	broad.mit.edu	37	5	167991007	167991007	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr5:167991007C>G	ENST00000239231.6	-	4	1015	c.699G>C	c.(697-699)gaG>gaC	p.E233D	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	233					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.E233D(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TTTCAAGAGCCTCTTCAAAAC	0.413																																																1	Substitution - Missense(1)	ovary(1)	5											128	143	138					5																	167991007		2203	4300	6503	167923585	SO:0001583	missense	79646			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.699G>C	5.37:g.167991007C>G	ENSP00000239231:p.Glu233Asp		167923585	D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229061	0.39399	.	.	ENSG00000120137	ENST00000239231	D	0.99660	-6.32	4.9	2.69	0.31865	.	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	M	0.67517	2.055	0.49213	D	0.999769	B	0.17852	0.024	B	0.30251	0.113	D	0.97258	0.9902	10	0.37606	T	0.19	-12.7148	4.3031	0.10933	0.0:0.5476:0.0:0.4524	.	233	Q9H999	PANK3_HUMAN	D	233	ENSP00000239231:E233D	ENSP00000239231:E233D	E	-	3	2	PANK3	167923585	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	1.583000	0.36579	1.200000	0.43188	0.591000	0.81541	GAG		0.413	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		G	167991007	C	G	167991007	3	3	207	1	0	0	0	0	1	0	0	0	11418	680	24	3	429	3	PANK3	5	167991007	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	316190	167991007	12924253	31	11949											
MSH5	4439	broad.mit.edu	37	6	31727723	31727723	+	Silent	SNP	A	A	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr6:31727723A>G	ENST00000375755.3	+	18	1942	c.1656A>G	c.(1654-1656)caA>caG	p.Q552Q	MSH5_ENST00000395853.1_Silent_p.Q226Q|MSH5_ENST00000375750.3_Silent_p.Q552Q|MSH5_ENST00000375740.3_Silent_p.Q569Q|MSH5-SAPCD1_ENST00000493662.2_Silent_p.Q569Q|MSH5_ENST00000375742.3_Silent_p.Q569Q|RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000375703.3_Silent_p.Q552Q|MSH5_ENST00000431848.2_Silent_p.Q251Q|MSH5_ENST00000534153.4_Silent_p.Q569Q	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	552					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.Q569Q(1)		breast(1)|ovary(2)|skin(2)	5						ACTCCCCACAAGTCCTTGGGG	0.567								Direct reversal of damage;Mismatch excision repair (MMR)																																								1	Substitution - coding silent(1)	ovary(1)	6											48	49	49					6																	31727723		2203	4300	6503	31835702	SO:0001819	synonymous_variant	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1656A>G	6.37:g.31727723A>G			31835702	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	CCDS4720.1																																																																																				0.567	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			G	31727723	A	G	31727723	2	3	207	1	0	0	0	0	0	0	0	1	9873	69	3	4		4	MSH5	6	31727723	Silent	SNP	A	TCGA-24-0979-01A-01W-0486-08		31727723	139387344	32	11950											
ITPR3	3710	broad.mit.edu	37	6	33648441	33648441	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr6:33648441A>G	ENST00000374316.5	+	34	5520	c.4460A>G	c.(4459-4461)aAc>aGc	p.N1487S	ITPR3_ENST00000605930.1_Missense_Mutation_p.N1487S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1487					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.N1487S(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TTCTCTGAGAACAGCACTTCC	0.542																																																1	Substitution - Missense(1)	ovary(1)	6											116	99	105					6																	33648441		2203	4300	6503	33756419	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4460A>G	6.37:g.33648441A>G	ENSP00000363435:p.Asn1487Ser		33756419	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338243	0.41398	.	.	ENSG00000096433	ENST00000374316	T	0.62364	0.03	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.35288	1.05	0.53688	D	0.999974	B	0.24043	0.096	B	0.27076	0.076	T	0.30707	-0.9969	10	0.25751	T	0.34	-45.1102	15.439	0.75168	1.0:0.0:0.0:0.0	.	1487	Q14573	ITPR3_HUMAN	S	1487	ENSP00000363435:N1487S	ENSP00000363435:N1487S	N	+	2	0	ITPR3	33756419	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.332000	0.96446	2.034000	0.60081	0.533000	0.62120	AAC		0.542	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		G	33648441	A	G	33648441	3	3	207	1	0	0	0	0	1	0	0	0	7922	43	2	4	4590	4	ITPR3	6	33648441	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	1920718	33648441	137466626	33	11951											
HTR1E	3354	broad.mit.edu	37	6	87725198	87725198	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr6:87725198C>A	ENST00000305344.5	+	2	849	c.146C>A	c.(145-147)aCc>aAc	p.T49N		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	49					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.T49N(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCTATTGGCACCACCAAGAAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	6											181	138	153					6																	87725198		2203	4300	6503	87781917	SO:0001583	missense	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.146C>A	6.37:g.87725198C>A	ENSP00000307766:p.Thr49Asn		87781917	E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851378	0.51270	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.38240	1.15;1.15	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000010	T	0.48223	0.1488	M	0.77406	2.37	0.38928	D	0.957883	P	0.48640	0.913	P	0.55871	0.786	T	0.55250	-0.8170	10	0.54805	T	0.06	.	17.3169	0.87227	0.0:1.0:0.0:0.0	.	49	P28566	5HT1E_HUMAN	N	49	ENSP00000307766:T49N;ENSP00000358597:T49N	ENSP00000307766:T49N	T	+	2	0	HTR1E	87781917	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.313000	0.51935	2.151000	0.67156	0.508000	0.49915	ACC		0.547	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		A	87725198	C	A	87725198	3	1	207	1	0	0	0	0	1	0	0	0	7439	507	18	3	148	3	HTR1E	6	87725198	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	54076757	87725198	83389869	34	11952											
PDE10A	10846	broad.mit.edu	37	6	165827029	165827029	+	Missense_Mutation	SNP	A	A	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr6:165827029A>C	ENST00000366882.1	-	14	1362	c.1208T>G	c.(1207-1209)aTg>aGg	p.M403R	PDE10A_ENST00000539869.2_Missense_Mutation_p.M413R|PDE10A_ENST00000354448.4_Missense_Mutation_p.M403R			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	403	GAF 2.				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.M403R(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)	GACGGCAAACATTTTGAAGTT	0.378																																					Esophageal Squamous(22;308 615 5753 12038 40624)											1	Substitution - Missense(1)	ovary(1)	6											106	100	102					6																	165827029		2203	4300	6503	165747019	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.1208T>G	6.37:g.165827029A>C	ENSP00000355847:p.Met403Arg		165747019	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	A	24.5	4.534932	0.85812	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67171	-0.25;-0.25	5.63	5.63	0.86233	GAF (2);	0.035237	0.85682	D	0.000000	T	0.67915	0.2944	L	0.33189	0.99	0.80722	D	1	D;P	0.60160	0.987;0.507	D;P	0.75020	0.985;0.538	T	0.73017	-0.4115	10	0.62326	D	0.03	.	15.87	0.79108	1.0:0.0:0.0:0.0	.	413;403	Q9ULW9;Q9Y233	.;PDE10_HUMAN	R	403;431;413;403;402	ENSP00000355847:M403R;ENSP00000346435:M403R	ENSP00000341187:M413R	M	-	2	0	PDE10A	165747019	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	8.749000	0.91619	2.145000	0.66743	0.533000	0.62120	ATG		0.378	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			C	165827029	A	C	165827029	3	2	207	1	0	0	0	0	1	0	0	0	11630	217	8	5	1171	5	PDE10A	6	165827029	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	78101831	165827029	5288038	35	11953											
PSMA2	5683	broad.mit.edu	37	7	42964387	42964387	+	Silent	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr7:42964387C>T	ENST00000223321.4	-	4	325	c.261G>A	c.(259-261)gtG>gtA	p.V87V	PSMA2_ENST00000445517.1_Silent_p.V17V|PSMA2_ENST00000442788.1_Silent_p.V87V|PSMA2_ENST00000538645.1_Silent_p.V9V	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.V87V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						GAGCTCTGTGCACAAGCACTC	0.413																																																2	Substitution - coding silent(2)	ovary(1)|kidney(1)	7											94	83	86					7																	42964387		2203	4300	6503	42930912	SO:0001819	synonymous_variant	5683			D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"Proteasome (prosome, macropain) subunits"	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.261G>A	7.37:g.42964387C>T			42930912	Q6ICS6|Q9BU45	Silent	SNP	ENST00000223321.4	37	CCDS5467.1																																																																																				0.413	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		T	42964387	C	T	42964387	2	4	207	1	0	0	0	0	0	0	0	1	12670	697	25	2		2	PSMA2	7	42964387	Silent	SNP	C	TCGA-24-0979-01A-01W-0486-08		42964387	116174276	36	11954											
URGCP	55665	broad.mit.edu	37	7	43917886	43917886	+	Silent	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr7:43917886C>T	ENST00000453200.1	-	6	1669	c.1176G>A	c.(1174-1176)ggG>ggA	p.G392G	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.G349G|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Silent_p.G349G|URGCP_ENST00000402306.3_Silent_p.G383G|URGCP_ENST00000443736.1_Silent_p.G349G|URGCP_ENST00000336086.6_Silent_p.G349G			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	392					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.G349G(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTTGCGCTTCCCACGGTAGG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	7											129	124	126					7																	43917886		1968	4153	6121	43884411	SO:0001819	synonymous_variant	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1176G>A	7.37:g.43917886C>T			43884411	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	CCDS47578.1																																																																																				0.418	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		T	43917886	C	T	43917886	2	4	207	1	0	0	0	0	0	0	0	1	17026	842	30	2		2	URGCP	7	43917886	Silent	SNP	C	TCGA-24-0979-01A-01W-0486-08	953499	43917886	115220777	37	11955											
RABGEF1	27342	broad.mit.edu	37	7	66270245	66270245	+	Silent	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr7:66270245T>C	ENST00000284957.5	+	8	1016	c.939T>C	c.(937-939)gaT>gaC	p.D313D	KCTD7_ENST00000380828.2_Silent_p.D353D|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Silent_p.D326D|RABGEF1_ENST00000437078.2_Silent_p.D327D|KCTD7_ENST00000451741.2_Silent_p.D313D|KCTD7_ENST00000510829.2_Silent_p.D313D|RABGEF1_ENST00000450873.2_Silent_p.D313D			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	530					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.D313D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CGTCAGCGGATGACTTCCTCC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	7											144	115	125					7																	66270245		2203	4300	6503	65907680	SO:0001819	synonymous_variant	27342			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.939T>C	7.37:g.66270245T>C			65907680	B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37	CCDS5535.1																																																																																				0.537	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		C	66270245	T	C	66270245	2	2	207	1	0	0	0	0	0	0	0	1	12969	1461	51	4		4	RABGEF1	7	66270245	Silent	SNP	T	TCGA-24-0979-01A-01W-0486-08	22352359	66270245	92868418	38	11956											
RP1L1	94137	broad.mit.edu	37	8	10466183	10466183	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr8:10466183C>T	ENST00000382483.3	-	4	5648	c.5425G>A	c.(5425-5427)Ggg>Agg	p.G1809R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1889					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.G1809R(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTCATGCCCAGAGCCTTGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	8											173	196	188					8																	10466183		2117	4214	6331	10503593	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5425G>A	8.37:g.10466183C>T	ENSP00000371923:p.Gly1809Arg		10503593	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412032	0.25465	.	.	ENSG00000183638	ENST00000382483	T	0.04603	3.59	4.59	0.631	0.17699	.	1.122700	0.07038	N	0.829584	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	B	0.28636	0.218	B	0.21546	0.035	T	0.44221	-0.9342	10	0.56958	D	0.05	-2.3662	7.7982	0.29160	0.0:0.5274:0.0:0.4726	.	1809	A6NKC6	.	R	1809	ENSP00000371923:G1809R	ENSP00000371923:G1809R	G	-	1	0	RP1L1	10503593	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.039000	0.12124	0.058000	0.16222	0.455000	0.32223	GGG		0.597	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10466183	C	T	10466183	3	4	207	1	0	0	0	0	1	0	0	0	13536	594	21	2	1781	2	RP1L1	8	10466183	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08		10466183	135897839	39	11957											
IDO2	169355	broad.mit.edu	37	8	39806756	39806756	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr8:39806756G>T	ENST00000389060.4	+	1	72	c.72G>T	c.(70-72)gaG>gaT	p.E24D	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Missense_Mutation_p.E37D|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	24					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.E24D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TATCTGAAGAGTATGGCTTTC	0.393																																																1	Substitution - Missense(1)	ovary(1)	8											65	63	64					8																	39806756		1886	4111	5997	39925913	SO:0001583	missense	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.72G>T	8.37:g.39806756G>T	ENSP00000426447:p.Glu24Asp		39925913	A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37		.	.	.	.	.	.	.	.	.	.	-	6.805	0.517572	0.13005	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.43688	0.94;0.94	4.92	-8.18	0.01053	.	0.416420	0.21485	N	0.073771	T	0.12092	0.0294	N	0.05554	-0.025	0.21841	N	0.999513	B	0.14012	0.009	B	0.13407	0.009	T	0.14952	-1.0454	9	.	.	.	.	1.2636	0.02006	0.2512:0.2523:0.3479:0.1485	.	37	F5H5G0	.	D	37;24	ENSP00000443432:E37D;ENSP00000426447:E24D	.	E	+	3	2	IDO2	39925913	0.011000	0.17503	0.543000	0.28128	0.941000	0.58515	-2.609000	0.00886	-2.044000	0.00911	0.645000	0.84053	GAG		0.393	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		T	39806756	G	T	39806756	3	4	207	1	0	0	0	0	1	0	0	0	7502	1020	36	3	117	3	IDO2	8	39806756	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	29340573	39806756	106557266	40	11958											
PXDNL	137902	broad.mit.edu	37	8	52320807	52320807	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr8:52320807A>G	ENST00000356297.4	-	17	3477	c.3377T>C	c.(3376-3378)cTc>cCc	p.L1126P	PXDNL_ENST00000543296.1_Missense_Mutation_p.L1126P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1126					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L1126P(1)|p.L325P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGGAGAAGAGCCTCTGGGT	0.577																																																2	Substitution - Missense(2)	ovary(2)	8											67	73	71					8																	52320807		1912	4123	6035	52483360	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3377T>C	8.37:g.52320807A>G	ENSP00000348645:p.Leu1126Pro		52483360	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.28|12.28	1.890415|1.890415	0.33348|0.33348	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.71579|.	-0.58;-0.58|.	3.59|3.59	3.59|3.59	0.41128|0.41128	.|.	0.796490|.	0.10423|.	N|.	0.676440|.	D|D	0.88074|0.88074	0.6339|0.6339	H|H	0.99182|0.99182	4.46|4.46	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90180|0.90180	0.4242|0.4242	10|5	0.87932|.	D|.	0|.	.|.	10.1066|10.1066	0.42537|0.42537	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1126|.	A1KZ92|.	PXDNL_HUMAN|.	P|P	1126|245	ENSP00000348645:L1126P;ENSP00000444865:L1126P|.	ENSP00000348645:L1126P|.	L|S	-|-	2|1	0|0	PXDNL|PXDNL	52483360|52483360	0.923000|0.923000	0.31300|0.31300	0.006000|0.006000	0.13384|0.13384	0.010000|0.010000	0.07245|0.07245	2.753000|2.753000	0.47524|0.47524	1.253000|1.253000	0.44018|0.44018	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.577	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		G	52320807	A	G	52320807	3	3	207	1	0	0	0	0	1	0	0	0	12851	304	11	4	1042	4	PXDNL	8	52320807	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	12514051	52320807	94043215	41	11959											
ASAP1	50807	broad.mit.edu	37	8	131127887	131127887	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr8:131127887T>C	ENST00000518721.1	-	23	2386	c.2159A>G	c.(2158-2160)gAt>gGt	p.D720G	ASAP1_ENST00000357668.1_Missense_Mutation_p.D720G	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	720					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.D720G(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTCATCCAGATCATCATCGCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	8											322	273	289					8																	131127887		2203	4300	6503	131197069	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2159A>G	8.37:g.131127887T>C	ENSP00000429900:p.Asp720Gly		131197069	B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.2|27.2	4.810774|4.810774	0.90707|0.90707	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.09723|.	2.95;2.95|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.098624|.	0.64402|.	N|.	0.000002|.	T|.	0.75221|.	0.3820|.	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.997;0.998|.	D;D;D|.	0.81914|.	0.989;0.989;0.995|.	T|.	0.76697|.	-0.2864|.	10|.	0.72032|.	D|.	0.01|.	.|.	14.4898|14.4898	0.67642|0.67642	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	720;720;723|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	G|W	723;720;720|540;133	ENSP00000350297:D720G;ENSP00000429900:D720G|.	ENSP00000344591:D723G|.	D|X	-|-	2|3	0|0	ASAP1|ASAP1	131197069|131197069	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.993000|0.993000	0.82548|0.82548	7.948000|7.948000	0.87774|0.87774	2.087000|2.087000	0.62958|0.62958	0.528000|0.528000	0.53228|0.53228	GAT|TGA		0.418	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		C	131127887	T	C	131127887	3	2	207	1	0	0	0	0	1	0	0	0	1010	1435	50	4	1262	4	ASAP1	8	131127887	Missense_Mutation	SNP	T	TCGA-24-0979-01A-01W-0486-08	78807080	131127887	15236135	42	11960											
PHF2	5253	broad.mit.edu	37	9	96416841	96416841	+	Silent	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr9:96416841C>T	ENST00000359246.4	+	7	1303	c.936C>T	c.(934-936)acC>acT	p.T312T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	312	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.T312T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGGGCCAGACCCTCTTCATCC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	9											127	112	117					9																	96416841		2203	4300	6503	95456662	SO:0001819	synonymous_variant	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.936C>T	9.37:g.96416841C>T			95456662	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	CCDS35069.1																																																																																				0.587	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		T	96416841	C	T	96416841	2	4	207	1	0	0	0	0	0	0	0	1	11830	610	22	2		2	PHF2	9	96416841	Silent	SNP	C	TCGA-24-0979-01A-01W-0486-08		96416841	44796590	43	11961											
PIK3AP1	118788	broad.mit.edu	37	10	98380198	98380198	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr10:98380198C>T	ENST00000339364.5	-	12	1971	c.1852G>A	c.(1852-1854)Ggc>Agc	p.G618S	RNA5SP324_ENST00000365177.1_RNA|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.G217S|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.G440S	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	618					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.G618S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TTGACAATGCCCAGCTTCACC	0.537																																																1	Substitution - Missense(1)	ovary(1)	10											123	112	116					10																	98380198		2203	4300	6503	98370188	SO:0001583	missense	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1852G>A	10.37:g.98380198C>T	ENSP00000339826:p.Gly618Ser		98370188	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	36	5.847464	0.97023	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.40756	1.02;1.02;1.02	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.60682	0.878;0.878	T	0.64441	-0.6407	10	0.72032	D	0.01	-26.1348	19.2253	0.93816	0.0:1.0:0.0:0.0	.	618;217	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	S	618;440;217	ENSP00000339826:G618S;ENSP00000360151:G440S;ENSP00000360150:G217S	ENSP00000339826:G618S	G	-	1	0	PIK3AP1	98370188	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.752000	0.85141	2.788000	0.95919	0.555000	0.69702	GGC		0.537	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		T	98380198	C	T	98380198	3	4	207	1	0	0	0	0	1	0	0	0	11908	623	22	2	589	2	PIK3AP1	10	98380198	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08		98380198	37154549	44	11962											
AHNAK	79026	broad.mit.edu	37	11	62293922	62293922	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr11:62293922G>A	ENST00000378024.4	-	5	8241	c.7967C>T	c.(7966-7968)cCa>cTa	p.P2656L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2656					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P2656L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCCCATCTGGGCCCTCTCC	0.527																																																1	Substitution - Missense(1)	ovary(1)	11											177	179	179					11																	62293922		2202	4299	6501	62050498	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7967C>T	11.37:g.62293922G>A	ENSP00000367263:p.Pro2656Leu		62050498	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	16.80	3.223200	0.58668	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05717	3.4	4.19	4.19	0.49359	.	.	.	.	.	T	0.35682	0.0940	H	0.96996	3.92	0.39417	D	0.966843	D	0.89917	1.0	D	0.85130	0.997	T	0.53258	-0.8464	9	0.56958	D	0.05	-3.1894	11.426	0.50012	0.0:0.0:0.8191:0.1809	.	2656	Q09666	AHNK_HUMAN	L	745;2656	ENSP00000367263:P2656L	ENSP00000244934:P745L	P	-	2	0	AHNAK	62050498	1.000000	0.71417	0.989000	0.46669	0.829000	0.46940	5.576000	0.67437	1.882000	0.54519	0.479000	0.44913	CCA		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62293922	G	A	62293922	3	1	207	1	0	0	0	0	1	0	0	0	414	1348	47	2	9825	2	AHNAK	11	62293922	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08		62293922	72712594	45	11963											
C2CD3	26005	broad.mit.edu	37	11	73834106	73834106	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr11:73834106A>G	ENST00000334126.7	-	8	1518	c.1292T>C	c.(1291-1293)gTg>gCg	p.V431A	C2CD3_ENST00000313663.7_Missense_Mutation_p.V431A			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	431					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.V431A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GATGCAATACACATCACTCCC	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											80	79	79					11																	73834106		2200	4293	6493	73511754	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1292T>C	11.37:g.73834106A>G	ENSP00000334379:p.Val431Ala		73511754	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	A	11.55	1.671228	0.29693	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.13420	2.59;2.61	5.52	-0.098	0.13630	.	0.377637	0.26352	N	0.024861	T	0.09862	0.0242	L	0.45581	1.43	0.80722	D	1	B;B	0.22080	0.064;0.018	B;B	0.17722	0.019;0.016	T	0.16217	-1.0410	10	0.32370	T	0.25	-0.6089	5.4423	0.16515	0.6338:0.0:0.1432:0.223	.	431;431	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	A	431	ENSP00000334379:V431A;ENSP00000323339:V431A	ENSP00000323339:V431A	V	-	2	0	C2CD3	73511754	0.994000	0.37717	0.993000	0.49108	0.946000	0.59487	2.737000	0.47393	0.045000	0.15804	0.459000	0.35465	GTG		0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		G	73834106	A	G	73834106	3	3	207	1	0	0	0	0	1	0	0	0	2154	159	6	4	4695	4	C2CD3	11	73834106	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	11540184	73834106	61172410	46	11964											
FAT3	120114	broad.mit.edu	37	11	92577313	92577313	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr11:92577313A>T	ENST00000298047.6	+	18	10797	c.10780A>T	c.(10780-10782)Agc>Tgc	p.S3594C	FAT3_ENST00000409404.2_Missense_Mutation_p.S3594C|FAT3_ENST00000525166.1_Missense_Mutation_p.S3444C|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3594	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S169C(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAGCAGAAAAGCTTATTTAA	0.483										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											174	178	177					11																	92577313		2039	4201	6240	92216961	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10780A>T	11.37:g.92577313A>T	ENSP00000298047:p.Ser3594Cys		92216961	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	16.30	3.085347	0.55861	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.09255	3.0;3.0;3.0	5.82	5.82	0.92795	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.35189	0.0923	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.74348	0.983;0.848	T	0.08146	-1.0736	9	0.62326	D	0.03	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	3594;3594	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	C	3594;3594;3444	ENSP00000298047:S3594C;ENSP00000387040:S3594C;ENSP00000432586:S3444C	ENSP00000298047:S3594C	S	+	1	0	FAT3	92216961	1.000000	0.71417	0.990000	0.47175	0.783000	0.44284	4.233000	0.58651	2.225000	0.72522	0.459000	0.35465	AGC		0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92577313	A	T	92577313	3	4	207	1	0	0	0	0	1	0	0	0	5691	72	3	5	10850	5	FAT3	11	92577313	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	18743207	92577313	42429203	47	11965											
TECTA	7007	broad.mit.edu	37	11	121031006	121031006	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr11:121031006G>T	ENST00000392793.1	+	15	5123	c.4852G>T	c.(4852-4854)Gtg>Ttg	p.V1618L	TECTA_ENST00000264037.2_Missense_Mutation_p.V1618L			O75443	TECTA_HUMAN	tectorin alpha	1618	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.V1618L(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCAGAACAAAGTGTGCGGTCT	0.517																																																1	Substitution - Missense(1)	ovary(1)	11											131	126	128					11																	121031006		2203	4299	6502	120536216	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4852G>T	11.37:g.121031006G>T	ENSP00000376543:p.Val1618Leu		120536216		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693268	0.68386	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60424	0.19;0.19	4.77	4.77	0.60923	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000002	T	0.61148	0.2324	N	0.11927	0.2	0.49051	D	0.999749	D	0.69078	0.997	D	0.80764	0.994	T	0.67669	-0.5611	10	0.51188	T	0.08	.	17.9956	0.89182	0.0:0.0:1.0:0.0	.	1618	O75443	TECTA_HUMAN	L	1618	ENSP00000376543:V1618L;ENSP00000264037:V1618L	ENSP00000264037:V1618L	V	+	1	0	TECTA	120536216	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.606000	0.82863	2.461000	0.83175	0.655000	0.94253	GTG		0.517	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	121031006	G	T	121031006	3	4	207	1	0	0	0	0	1	0	0	0	15747	1029	36	3	4906	3	TECTA	11	121031006	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	28453693	121031006	13975510	48	11966											
SLC38A4	55089	broad.mit.edu	37	12	47170716	47170716	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr12:47170716G>A	ENST00000447411.1	-	12	1351	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	SLC38A4_ENST00000266579.4_Missense_Mutation_p.A382V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	382					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.A382V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AAAGAGGGCGGCAAGCAGGTA	0.458																																																1	Substitution - Missense(1)	ovary(1)	12											124	123	124					12																	47170716		2203	4299	6502	45456983	SO:0001583	missense	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1145C>T	12.37:g.47170716G>A	ENSP00000389843:p.Ala382Val		45456983	A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241513	0.95272	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.01947	4.54;4.54	5.96	5.06	0.68205	.	0.169298	0.53938	N	0.000053	T	0.08802	0.0218	L	0.55213	1.73	0.58432	D	0.999993	D	0.63046	0.992	D	0.75484	0.986	T	0.46992	-0.9151	10	0.18710	T	0.47	-8.5361	15.0381	0.71764	0.068:0.0:0.932:0.0	.	382	Q969I6	S38A4_HUMAN	V	382	ENSP00000389843:A382V;ENSP00000266579:A382V	ENSP00000266579:A382V	A	-	2	0	SLC38A4	45456983	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.027000	0.88791	1.521000	0.48983	0.655000	0.94253	GCC		0.458	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			A	47170716	G	A	47170716	3	1	207	1	0	0	0	0	1	0	0	0	14609	1203	42	2	518	2	SLC38A4	12	47170716	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08		47170716	86681179	49	11967											
MLL2	8085	broad.mit.edu	37	12	49437653	49437653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr12:49437653G>A	ENST00000301067.7	-	22	5316	c.5317C>T	c.(5317-5319)Cag>Tag	p.Q1773*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1773					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q1503*(1)									AGACCCACCTGCAAGTAAGCA	0.562											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	ovary(1)	12											143	153	150					12																	49437653		2131	4223	6354	47723920	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5317C>T	12.37:g.49437653G>A	ENSP00000301067:p.Gln1773*	962	47723920	O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	43	10.384382	0.99395	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4916	0.87705	0.0:0.0:1.0:0.0	.	.	.	.	X	1773	.	ENSP00000301067:Q1773X	Q	-	1	0	MLL2	47723920	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	9.537000	0.98070	2.411000	0.81874	0.563000	0.77884	CAG		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49437653	G	A	49437653	4	1	207	1	0	0	0	0	0	1	0	0	9621	1328	46	2	11428	2	MLL2	12	49437653	Nonsense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	2266937	49437653	84414242	50	11968											
SCN8A	6334	broad.mit.edu	37	12	52200932	52200932	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr12:52200932A>T	ENST00000354534.6	+	27	5840	c.5662A>T	c.(5662-5664)Acc>Tcc	p.T1888S	RP11-923I11.3_ENST00000565518.1_lincRNA|AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Missense_Mutation_p.T1847S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1888					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.T1888S(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GCCAATCACAACCACACTGCG	0.572																																																1	Substitution - Missense(1)	ovary(1)	12											131	138	136					12																	52200932		2078	4224	6302	50487199	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5662A>T	12.37:g.52200932A>T	ENSP00000346534:p.Thr1888Ser		50487199	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353706	0.41700	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96522	-4.04;-3.97	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.92896	0.7740	L	0.33093	0.98	0.80722	D	1	P	0.46220	0.874	B	0.40702	0.338	D	0.92195	0.5763	10	0.29301	T	0.29	.	15.2553	0.73579	1.0:0.0:0.0:0.0	.	1888	Q9UQD0	SCN8A_HUMAN	S	1888;1847	ENSP00000346534:T1888S;ENSP00000440360:T1847S	ENSP00000346534:T1888S	T	+	1	0	SCN8A	50487199	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	9.139000	0.94554	2.254000	0.74563	0.533000	0.62120	ACC		0.572	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		T	52200932	A	T	52200932	3	4	207	1	0	0	0	0	1	0	0	0	13927	43	2	5	5764	5	SCN8A	12	52200932	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	2763279	52200932	81650963	51	11969											
ACVR1B	91	broad.mit.edu	37	12	52377951	52377951	+	Splice_Site	SNP	G	G	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr12:52377951G>C	ENST00000257963.4	+	5	1056		c.e5+1		ACVR1B_ENST00000563121.1_Splice_Site|ACVR1B_ENST00000542485.1_Splice_Site|ACVR1B_ENST00000426655.2_Splice_Site|ACVR1B_ENST00000541224.1_Splice_Site|ACVR1B_ENST00000415850.2_Splice_Site	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB						activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGCACCCAAGGTGAGTGGACT	0.537																																																1	Unknown(1)	ovary(1)	12											82	65	70					12																	52377951		2203	4300	6503	50664218	SO:0001630	splice_region_variant	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.979+1G>C	12.37:g.52377951G>C			50664218	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Splice_Site	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972391	0.53614	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5039	0.95106	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACVR1B	50664218	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	9.827000	0.99397	2.692000	0.91855	0.655000	0.94253	.		0.537	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328	Intron	C	52377951	G	C	52377951	5	2	207	1	0	0	0	0	0	0	1	0	221	1275	44	3	1125	3	ACVR1B	12	52377951	Splice_Site	SNP	G	TCGA-24-0979-01A-01W-0486-08	177019	52377951	81473944	52	11970											
NCKAP1L	3071	broad.mit.edu	37	12	54911344	54911344	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr12:54911344T>C	ENST00000293373.6	+	12	1202	c.1123T>C	c.(1123-1125)Ttc>Ctc	p.F375L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.F325L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	375					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.F375L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGCCCTGTCCTTCATTCGTGA	0.443																																																1	Substitution - Missense(1)	ovary(1)	12											111	98	102					12																	54911344		2203	4300	6503	53197611	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1123T>C	12.37:g.54911344T>C	ENSP00000293373:p.Phe375Leu		53197611	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.901957	0.92035	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.26373	1.74;1.74	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.47016	1.485	0.53005	D	0.999969	D	0.69078	0.997	D	0.77004	0.989	T	0.11941	-1.0567	10	0.15499	T	0.54	-19.3442	14.1012	0.65056	0.0:0.0:0.0:1.0	.	375	P55160	NCKPL_HUMAN	L	375;325	ENSP00000293373:F375L;ENSP00000445596:F325L	ENSP00000293373:F375L	F	+	1	0	NCKAP1L	53197611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.710000	0.84655	2.217000	0.71921	0.379000	0.24179	TTC		0.443	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		C	54911344	T	C	54911344	3	2	207	1	0	0	0	0	1	0	0	0	10222	1609	56	4	1169	4	NCKAP1L	12	54911344	Missense_Mutation	SNP	T	TCGA-24-0979-01A-01W-0486-08	2533393	54911344	78940551	53	11971											
NACA	4666	broad.mit.edu	37	12	57111914	57111914	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr12:57111914G>A	ENST00000454682.1	-	3	3681	c.3400C>T	c.(3400-3402)Ccc>Tcc	p.P1134S	NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTGGGGAGGGAGGAGTTGCA	0.637			T	BCL6	NHL																																		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0			12											59	57	58					12																	57111914		1271	2785	4056	55398181	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3400C>T	12.37:g.57111914G>A	ENSP00000403817:p.Pro1134Ser		55398181		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	N	5.214	0.225062	0.09916	.	.	ENSG00000196531	ENST00000454682	T	0.46063	0.88	2.84	-4.41	0.03590	.	.	.	.	.	T	0.19886	0.0478	.	.	.	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.25152	-1.0140	7	.	.	.	.	5.3408	0.15982	0.0:0.3043:0.3347:0.361	.	1134	E9PAV3	.	S	1134	ENSP00000403817:P1134S	.	P	-	1	0	NACA	55398181	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.108000	0.10857	-0.298000	0.08921	0.289000	0.19496	CCC		0.637	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		A	57111914	G	A	57111914	3	1	207	1	0	0	0	0	1	0	0	0	10133	1174	41	2	2864	2	NACA	12	57111914	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	2200570	57111914	76739981	54	11972											
XPOT	11260	broad.mit.edu	37	12	64814261	64814261	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr12:64814261G>C	ENST00000332707.5	+	8	1332	c.803G>C	c.(802-804)tGt>tCt	p.C268S		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	268	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.C268S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAATCTTTGTGTCAAGTATTA	0.343																																																1	Substitution - Missense(1)	ovary(1)	12											102	107	105					12																	64814261		2203	4299	6502	63100528	SO:0001583	missense	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.803G>C	12.37:g.64814261G>C	ENSP00000327821:p.Cys268Ser		63100528	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289968	0.59976	.	.	ENSG00000184575	ENST00000332707	T	0.20463	2.07	4.89	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	N	0.25647	0.755	0.80722	D	1	B	0.20368	0.044	B	0.13407	0.009	T	0.06180	-1.0841	9	.	.	.	.	18.9398	0.92601	0.0:0.0:1.0:0.0	.	268	O43592	XPOT_HUMAN	S	268	ENSP00000327821:C268S	.	C	+	2	0	XPOT	63100528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.655000	0.98512	2.649000	0.89929	0.655000	0.94253	TGT		0.343	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		C	64814261	G	C	64814261	3	2	207	1	0	0	0	0	1	0	0	0	17450	1377	48	3	829	3	XPOT	12	64814261	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	7702347	64814261	69037634	55	11973											
GOLGA3	2802	broad.mit.edu	37	12	133365624	133365624	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr12:133365624T>C	ENST00000450791.2	-	12	2983	c.2800A>G	c.(2800-2802)Aca>Gca	p.T934A	GOLGA3_ENST00000456883.2_Missense_Mutation_p.T934A|GOLGA3_ENST00000204726.3_Missense_Mutation_p.T934A|GOLGA3_ENST00000545875.1_Missense_Mutation_p.T934A|GOLGA3_ENST00000537452.1_Missense_Mutation_p.T934A			Q08378	GOGA3_HUMAN	golgin A3	934					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.T934A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAAGTGTGTTTCCATCTCG	0.632																																																1	Substitution - Missense(1)	ovary(1)	12											104	90	94					12																	133365624		2203	4300	6503	131875697	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2800A>G	12.37:g.133365624T>C	ENSP00000410378:p.Thr934Ala		131875697	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710461	0.30322	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.31769	1.9;1.9;1.91;1.48;1.48	4.91	3.76	0.43208	.	0.385092	0.31031	N	0.008384	T	0.26011	0.0634	M	0.63843	1.955	0.80722	D	1	B;B;B	0.21147	0.052;0.007;0.015	B;B;B	0.16289	0.015;0.01;0.009	T	0.05566	-1.0877	10	0.11485	T	0.65	.	8.6234	0.33875	0.0:0.1577:0.0:0.8423	.	934;934;934	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	A	934	ENSP00000204726:T934A;ENSP00000410378:T934A;ENSP00000409303:T934A;ENSP00000442143:T934A;ENSP00000442603:T934A	ENSP00000204726:T934A	T	-	1	0	GOLGA3	131875697	0.008000	0.16893	0.747000	0.31113	0.814000	0.46013	0.743000	0.26231	0.838000	0.34948	0.383000	0.25322	ACA		0.632	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		C	133365624	T	C	133365624	3	2	207	1	0	0	0	0	1	0	0	0	6554	1725	60	4	1882	4	GOLGA3	12	133365624	Missense_Mutation	SNP	T	TCGA-24-0979-01A-01W-0486-08	68551363	133365624	486271	56	11974											
ELF1	1997	broad.mit.edu	37	13	41517221	41517221	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr13:41517221G>C	ENST00000239882.3	-	7	987	c.673C>G	c.(673-675)Cct>Gct	p.P225A	ELF1_ENST00000442101.1_Missense_Mutation_p.P201A|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	225					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P225A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		ATGTATTTAGGACAAGTAGCC	0.393																																																1	Substitution - Missense(1)	ovary(1)	13											87	83	84					13																	41517221		2203	4300	6503	40415221	SO:0001583	missense	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.673C>G	13.37:g.41517221G>C	ENSP00000239882:p.Pro225Ala		40415221	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948483	0.92593	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.53857	0.6;0.6	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67921	-0.5545	10	0.51188	T	0.08	.	19.9694	0.97278	0.0:0.0:1.0:0.0	.	201;225	E9PDQ9;P32519	.;ELF1_HUMAN	A	201;225	ENSP00000405580:P201A;ENSP00000239882:P225A	ENSP00000239882:P225A	P	-	1	0	ELF1	40415221	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	CCT		0.393	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		C	41517221	G	C	41517221	3	2	207	1	0	0	0	0	1	0	0	0	5053	1174	41	3	1198	3	ELF1	13	41517221	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08		41517221	73652657	57	11975											
EDDM3B	64184	broad.mit.edu	37	14	21238385	21238385	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr14:21238385A>G	ENST00000326783.3	+	2	174	c.76A>G	c.(76-78)Aaa>Gaa	p.K26E		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	26						extracellular region (GO:0005576)		p.K26E(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGTACAGAGCAAAGAAGTTTC	0.473																																																1	Substitution - Missense(1)	ovary(1)	14											75	75	75					14																	21238385		2203	4300	6503	20308225	SO:0001583	missense	64184			X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"family with sequence similarity 12, member B (epididymal)"	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.76A>G	14.37:g.21238385A>G	ENSP00000314810:p.Lys26Glu		20308225	A0PK89	Missense_Mutation	SNP	ENST00000326783.3	37	CCDS9557.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.539388	0.00942	.	.	ENSG00000181552	ENST00000326783	T	0.28454	1.61	3.68	-3.86	0.04230	Ribonuclease A, domain (2);	0.925329	0.08949	N	0.870413	T	0.15003	0.0362	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26849	-1.0091	10	0.39692	T	0.17	.	6.9247	0.24408	0.1887:0.3977:0.4135:0.0	.	26	P56851	EP3B_HUMAN	E	26	ENSP00000314810:K26E	ENSP00000314810:K26E	K	+	1	0	EDDM3B	20308225	0.008000	0.16893	0.002000	0.10522	0.010000	0.07245	-0.500000	0.06405	-0.514000	0.06488	-0.379000	0.06801	AAA		0.473	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			G	21238385	A	G	21238385	3	3	207	1	0	0	0	0	1	0	0	0	4910	131	5	4	78	4	EDDM3B	14	21238385	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08		21238385	86111155	58	11976											
SLC39A2	29986	broad.mit.edu	37	14	21469412	21469412	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr14:21469412C>T	ENST00000298681.4	+	4	761	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	202					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.H202Y(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGTCCTGGCTCATAAGGGGCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	14											140	117	125					14																	21469412		2203	4300	6503	20539252	SO:0001583	missense	29986			AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"Solute carriers"	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.604C>T	14.37:g.21469412C>T	ENSP00000298681:p.His202Tyr		20539252	B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536416	0.85812	.	.	ENSG00000165794	ENST00000298681	T	0.74737	-0.87	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.89619	0.6767	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91639	0.5325	10	0.87932	D	0	-9.9851	17.3289	0.87257	0.0:1.0:0.0:0.0	.	202	Q9NP94	S39A2_HUMAN	Y	202	ENSP00000298681:H202Y	ENSP00000298681:H202Y	H	+	1	0	SLC39A2	20539252	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.123000	0.77176	2.687000	0.91594	0.655000	0.94253	CAT		0.527	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		T	21469412	C	T	21469412	3	4	207	1	0	0	0	0	1	0	0	0	14621	826	29	2	618	2	SLC39A2	14	21469412	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	231027	21469412	85880128	59	11977											
MLH3	27030	broad.mit.edu	37	14	75514887	75514887	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr14:75514887A>G	ENST00000556740.1	-	1	1507	c.1472T>C	c.(1471-1473)tTc>tCc	p.F491S	MLH3_ENST00000355774.2_Missense_Mutation_p.F491S|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.F491S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.F491S|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	491					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.F491S(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATGTTCCAGGAAAGATTTTTT	0.378								Mismatch excision repair (MMR)																																								1	Substitution - Missense(1)	ovary(1)	14											89	97	94					14																	75514887		2203	4299	6502	74584640	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1472T>C	14.37:g.75514887A>G	ENSP00000452316:p.Phe491Ser		74584640	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	9.461	1.092991	0.20471	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.79554	-1.24;-1.24;-1.28;-1.24	5.34	1.05	0.20165	.	0.909482	0.09557	N	0.786102	T	0.58977	0.2160	N	0.14661	0.345	0.09310	N	1	B;B	0.19817	0.039;0.0	B;B	0.18871	0.023;0.0	T	0.40384	-0.9566	10	0.15499	T	0.54	7.7872	2.0853	0.03644	0.386:0.3415:0.1196:0.1529	.	491;491	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	S	491	ENSP00000348020:F491S;ENSP00000238662:F491S;ENSP00000451540:F491S;ENSP00000452316:F491S	ENSP00000238662:F491S	F	-	2	0	MLH3	74584640	0.000000	0.05858	0.104000	0.21259	0.340000	0.28889	0.178000	0.16820	-0.023000	0.13963	-0.195000	0.12781	TTC		0.378	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		G	75514887	A	G	75514887	3	3	207	1	0	0	0	0	1	0	0	0	9618	246	9	4	2937	4	MLH3	14	75514887	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	54045475	75514887	31834653	60	11978											
FBXO39	162517	broad.mit.edu	37	17	6683691	6683691	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr17:6683691C>A	ENST00000321535.4	+	2	634	c.504C>A	c.(502-504)aaC>aaA	p.N168K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	168								p.N168K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ATTATCTCAACCTAAAAGGGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	17											55	55	55					17																	6683691		2203	4300	6503	6624415	SO:0001583	missense	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.504C>A	17.37:g.6683691C>A	ENSP00000321386:p.Asn168Lys		6624415		Missense_Mutation	SNP	ENST00000321535.4	37	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465685	0.26335	.	.	ENSG00000177294	ENST00000321535	T	0.54279	0.58	5.63	3.61	0.41365	.	0.244954	0.35555	N	0.003139	T	0.34890	0.0913	L	0.27053	0.805	0.28751	N	0.90141	B	0.27823	0.19	B	0.24155	0.051	T	0.19353	-1.0308	10	0.27082	T	0.32	-30.9098	9.2183	0.37362	0.0:0.8241:0.0:0.1759	.	168	Q8N4B4	FBX39_HUMAN	K	168	ENSP00000321386:N168K	ENSP00000321386:N168K	N	+	3	2	FBXO39	6624415	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.870000	0.39529	1.530000	0.49136	0.650000	0.86243	AAC		0.512	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		A	6683691	C	A	6683691	3	1	207	1	0	0	0	0	1	0	0	0	5747	506	18	3	506	3	FBXO39	17	6683691	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08		6683691	74511519	61	11979											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	207	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	893847	7577538	73617672	62	11980											
FAM134C	162427	broad.mit.edu	37	17	40737233	40737233	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr17:40737233C>T	ENST00000309428.5	-	6	696	c.637G>A	c.(637-639)Gat>Aat	p.D213N	FAM134C_ENST00000543197.1_Missense_Mutation_p.D18N|FAM134C_ENST00000585894.1_Missense_Mutation_p.D116N	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	213						integral component of membrane (GO:0016021)		p.D213N(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TATGCTCGATCCCACAGTCGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	17											87	65	72					17																	40737233		2203	4300	6503	37990759	SO:0001583	missense	162427			BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.637G>A	17.37:g.40737233C>T	ENSP00000309432:p.Asp213Asn		37990759	B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072892	0.76415	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.45668	0.89;0.89	6.17	4.15	0.48705	.	0.257573	0.47852	N	0.000212	T	0.22044	0.0531	N	0.08118	0	0.36623	D	0.875865	B	0.06786	0.001	B	0.08055	0.003	T	0.11494	-1.0585	10	0.41790	T	0.15	-9.2111	9.1277	0.36826	0.0:0.5764:0.3362:0.0874	.	213	Q86VR2	F134C_HUMAN	N	213;18	ENSP00000309432:D213N;ENSP00000446235:D18N	ENSP00000309432:D213N	D	-	1	0	FAM134C	37990759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.839000	0.75364	1.627000	0.50400	0.655000	0.94253	GAT		0.522	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		T	40737233	C	T	40737233	3	4	207	1	0	0	0	0	1	0	0	0	5447	855	30	2	779	2	FAM134C	17	40737233	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	33159695	40737233	40457977	63	11981											
WNK4	65266	broad.mit.edu	37	17	40948560	40948560	+	Missense_Mutation	SNP	C	C	G	rs569324622		TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr17:40948560C>G	ENST00000246914.5	+	18	3714	c.3693C>G	c.(3691-3693)agC>agG	p.S1231R	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1231					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.S1219R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCGGGCAAGCAAGGGGGTGA	0.637													C|||	1	0.000199681	0	0	5008	,	,		13753	0.001		0	False		,,,				2504	0				Esophageal Squamous(6;201 374 4964 23855 42828)											1	Substitution - Missense(1)	ovary(1)	17											58	57	58					17																	40948560		2203	4300	6503	38202086	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3693C>G	17.37:g.40948560C>G	ENSP00000246914:p.Ser1231Arg		38202086	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745617	0.49151	.	.	ENSG00000126562	ENST00000246914	T	0.75704	-0.96	5.51	5.51	0.81932	.	0.272298	0.26248	N	0.025470	D	0.83257	0.5215	L	0.55990	1.75	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.84381	0.0549	10	0.72032	D	0.01	-13.0924	19.0022	0.92838	0.0:1.0:0.0:0.0	.	1231	Q96J92	WNK4_HUMAN	R	1231	ENSP00000246914:S1231R	ENSP00000246914:S1231R	S	+	3	2	WNK4	38202086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.992000	0.40737	2.592000	0.87571	0.655000	0.94253	AGC		0.637	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			G	40948560	C	G	40948560	3	3	207	1	0	0	0	0	1	0	0	0	17380	709	25	3	3763	3	WNK4	17	40948560	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	211327	40948560	40246650	64	11982											
HDAC5	10014	broad.mit.edu	37	17	42164917	42164917	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr17:42164917G>C	ENST00000393622.2	-	13	2078	c.1747C>G	c.(1747-1749)Cag>Gag	p.Q583E	HDAC5_ENST00000225983.6_Missense_Mutation_p.Q584E|HDAC5_ENST00000336057.5_Missense_Mutation_p.Q583E|HDAC5_ENST00000586802.1_Missense_Mutation_p.Q583E	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	583					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q583E(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGGTCTTCCTGTGTGCTCTCA	0.632																																																1	Substitution - Missense(1)	ovary(1)	17											82	71	74					17																	42164917		2203	4300	6503	39520443	SO:0001583	missense	10014			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1747C>G	17.37:g.42164917G>C	ENSP00000377244:p.Gln583Glu		39520443	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722780	0.30503	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.05382	3.45;3.45;3.45	4.07	4.07	0.47477	.	0.227188	0.28301	N	0.015849	T	0.02807	0.0084	N	0.08118	0	0.50813	D	0.999897	P;B;B;B	0.37500	0.597;0.231;0.341;0.231	B;B;B;B	0.30646	0.118;0.055;0.118;0.055	T	0.41161	-0.9524	10	0.02654	T	1	-16.1674	15.1848	0.72993	0.0:0.0:1.0:0.0	.	583;583;584;583	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	E	584;583;583	ENSP00000225983:Q584E;ENSP00000377244:Q583E;ENSP00000337290:Q583E	ENSP00000225983:Q584E	Q	-	1	0	HDAC5	39520443	0.759000	0.28416	0.998000	0.56505	0.967000	0.64934	1.699000	0.37804	2.098000	0.63641	0.491000	0.48974	CAG		0.632	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		C	42164917	G	C	42164917	3	2	207	1	0	0	0	0	1	0	0	0	7010	1386	48	3	1681	3	HDAC5	17	42164917	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	1216357	42164917	39030293	65	11983											
COIL	8161	broad.mit.edu	37	17	55019486	55019486	+	Splice_Site	SNP	T	T	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr17:55019486T>A	ENST00000240316.4	-	6	1593		c.e6-2		RP5-1107A17.3_ENST00000572187.1_RNA	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin							Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.?(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTCTCAAGGCTGAAACAAGAA	0.388																																																1	Unknown(1)	ovary(1)	17											88	84	85					17																	55019486		2203	4300	6503	52374485	SO:0001630	splice_region_variant	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1559-2A>T	17.37:g.55019486T>A			52374485	B2R931	Splice_Site	SNP	ENST00000240316.4	37	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562215	0.45694	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.351	0.60601	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COIL	52374485	1.000000	0.71417	0.998000	0.56505	0.513000	0.34164	5.228000	0.65310	2.023000	0.59567	0.455000	0.32223	.		0.388	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1		Intron	A	55019486	T	A	55019486	5	1	207	1	0	0	0	0	0	0	1	0	3665	1594	55	5	181	5	COIL	17	55019486	Splice_Site	SNP	T	TCGA-24-0979-01A-01W-0486-08	12854569	55019486	26175724	66	11984											
LAMA1	284217	broad.mit.edu	37	18	7033075	7033075	+	Missense_Mutation	SNP	C	C	A	rs184077167		TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr18:7033075C>A	ENST00000389658.3	-	15	2164	c.2071G>T	c.(2071-2073)Gac>Tac	p.D691Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	691	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D691Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGGCTATGTCCAGAGAGACG	0.507																																																1	Substitution - Missense(1)	ovary(1)	18											101	75	84					18																	7033075		2203	4299	6502	7023075	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2071G>T	18.37:g.7033075C>A	ENSP00000374309:p.Asp691Tyr		7023075		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884224	0.72410	.	.	ENSG00000101680	ENST00000389658	T	0.38560	1.13	6.07	6.07	0.98685	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71391	-0.4607	10	0.52906	T	0.07	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	691	P25391	LAMA1_HUMAN	Y	691	ENSP00000374309:D691Y	ENSP00000374309:D691Y	D	-	1	0	LAMA1	7023075	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	3.767000	0.55288	2.884000	0.98904	0.655000	0.94253	GAC		0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7033075	C	A	7033075	3	1	207	1	0	0	0	0	1	0	0	0	8605	855	30	3	7352	3	LAMA1	18	7033075	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08		7033075	71044173	67	11985											
LAMA3	3909	broad.mit.edu	37	18	21438765	21438765	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr18:21438765G>A	ENST00000313654.9	+	34	4635	c.4394G>A	c.(4393-4395)tGt>tAt	p.C1465Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.C1465Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1465	Domain III B.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.C1465Y(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AATAATCAATGTCACAGCTCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	18											181	162	168					18																	21438765		1947	4151	6098	19692763	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4394G>A	18.37:g.21438765G>A	ENSP00000324532:p.Cys1465Tyr		19692763	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163506	0.57476	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.52295	0.75;0.67	5.47	5.47	0.80525	Growth factor, receptor (1);	.	.	.	.	T	0.75398	0.3844	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80259	-0.1457	9	0.87932	D	0	.	19.32	0.94234	0.0:0.0:1.0:0.0	.	1465;1465	Q6VU67;Q16787	.;LAMA3_HUMAN	Y	1465;1465;1463	ENSP00000324532:C1465Y;ENSP00000382432:C1465Y	ENSP00000324532:C1465Y	C	+	2	0	LAMA3	19692763	1.000000	0.71417	0.098000	0.21074	0.154000	0.21943	9.130000	0.94437	2.580000	0.87095	0.561000	0.74099	TGT		0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21438765	G	A	21438765	3	1	207	1	0	0	0	0	1	0	0	0	8607	1377	48	2	4528	2	LAMA3	18	21438765	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	14405690	21438765	56638483	68	11986											
MALT1	10892	broad.mit.edu	37	18	56414870	56414870	+	Silent	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr18:56414870C>T	ENST00000348428.3	+	17	2529	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F	MALT1_ENST00000345724.3_Silent_p.F746F|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	757					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.F746F(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AAGACCCATTCCATGGTGTTT	0.448			T	BIRC3	MALT																																		Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	1	Substitution - coding silent(1)	ovary(1)	18											180	169	173					18																	56414870		2203	4300	6503	54565850	SO:0001819	synonymous_variant	10892				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.2271C>T	18.37:g.56414870C>T			54565850	Q9NTB7|Q9ULX4	Silent	SNP	ENST00000348428.3	37	CCDS11967.1																																																																																				0.448	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			T	56414870	C	T	56414870	2	4	207	1	0	0	0	0	0	0	0	1	9202	854	30	2		2	MALT1	18	56414870	Silent	SNP	C	TCGA-24-0979-01A-01W-0486-08	34976105	56414870	21662378	69	11987											
INSR	3643	broad.mit.edu	37	19	7117323	7117323	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr19:7117323A>G	ENST00000302850.5	-	22	4035	c.3893T>C	c.(3892-3894)tTt>tCt	p.F1298S	INSR_ENST00000341500.5_Missense_Mutation_p.F1286S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.F1298S(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CACCTCTGGAAAGCTGGGGTG	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											117	109	112					19																	7117323		2203	4300	6503	7068323	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3893T>C	19.37:g.7117323A>G	ENSP00000303830:p.Phe1298Ser		7068323	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630806	0.67015	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.78126	-1.14;-1.15	4.99	4.99	0.66335	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000231	D	0.83133	0.5188	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84807	0.0788	10	0.87932	D	0	.	12.6952	0.56999	1.0:0.0:0.0:0.0	.	1286;1298	P06213-2;P06213	.;INSR_HUMAN	S	1298;1286	ENSP00000303830:F1298S;ENSP00000342838:F1286S	ENSP00000303830:F1298S	F	-	2	0	INSR	7068323	1.000000	0.71417	0.985000	0.45067	0.396000	0.30629	6.842000	0.75379	2.094000	0.63399	0.460000	0.39030	TTT		0.562	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			G	7117323	A	G	7117323	3	3	207	1	0	0	0	0	1	0	0	0	7773	14	1	4	259	4	INSR	19	7117323	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08		7117323	52011660	70	11988											
GADD45GIP1	90480	broad.mit.edu	37	19	13065202	13065202	+	Silent	SNP	G	G	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr19:13065202G>C	ENST00000316939.1	-	2	512	c.489C>G	c.(487-489)ctC>ctG	p.L163L		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	163					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L163L(1)		ovary(2)|prostate(1)|skin(1)	4						GGTAGCCCAGGAGCTCCTGGG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	19											66	68	67					19																	13065202		2203	4300	6503	12926202	SO:0001819	synonymous_variant	90480			AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"papillomavirus L2 interacting nuclear protein 1", "CKII beta binding protein 2", "CR6 interacting factor 1", "p53-responsive gene 6"	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.489C>G	19.37:g.13065202G>C			12926202	Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Silent	SNP	ENST00000316939.1	37	CCDS12290.1																																																																																				0.612	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		C	13065202	G	C	13065202	2	2	207	1	0	0	0	0	0	0	0	1	6184	1161	41	3		3	GADD45GIP1	19	13065202	Silent	SNP	G	TCGA-24-0979-01A-01W-0486-08	5947879	13065202	46063781	71	11989											
EPS15L1	58513	broad.mit.edu	37	19	16528758	16528758	+	Splice_Site	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr19:16528758C>A	ENST00000248070.6	-	11	1247		c.e11+1		EPS15L1_ENST00000455140.2_Splice_Site|EPS15L1_ENST00000602009.1_Splice_Site|EPS15L1_ENST00000535753.2_Splice_Site|EPS15L1_ENST00000594975.1_Splice_Site|EPS15L1_ENST00000597937.1_Splice_Site	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1						endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCACCACTCACCGGGCCGGGC	0.622											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Unknown(1)	ovary(1)	19											86	77	80					19																	16528758		2203	4300	6503	16389758	SO:0001630	splice_region_variant	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1107+1G>T	19.37:g.16528758C>A		711	16389758	A2RRF3|A5PL29|B4DKA3	Splice_Site	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931163	0.73327	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0353	0.80625	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS15L1	16389758	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.333000	0.79214	2.246000	0.74042	0.655000	0.94253	.		0.622	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	Intron	A	16528758	C	A	16528758	5	1	207	1	0	0	0	0	0	0	1	0	5193	521	18	3	1538	3	EPS15L1	19	16528758	Splice_Site	SNP	C	TCGA-24-0979-01A-01W-0486-08	3463556	16528758	42600225	72	11990											
CPAMD8	27151	broad.mit.edu	37	19	17091496	17091496	+	Splice_Site	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr19:17091496C>A	ENST00000443236.1	-	14	1568	c.1537G>T	c.(1537-1539)Gtt>Ttt	p.V513F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	466						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V513F(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						TCTTCCCCAACCTATGGAAGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											60	64	63					19																	17091496		2000	4170	6170	16952496	SO:0001630	splice_region_variant	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.1537-1G>T	19.37:g.17091496C>A			16952496	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.23|17.23	3.336086|3.336086	0.60963|0.60963	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.6|2.6	2.6|2.6	0.31112|0.31112	.|Alpha-2-macroglobulin, N-terminal 2 (1);	.|0.000000	.|0.56097	.|U	.|0.000030	T|T	0.55242|0.55242	0.1908|0.1908	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	.|P	.|0.47484	.|0.896	.|B	.|0.41036	.|0.346	T|T	0.64993|0.64993	-0.6276|-0.6276	5|9	.|0.66056	.|D	.|0.02	.|.	13.4268|13.4268	0.61030|0.61030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|466	.|Q8IZJ3	.|CPMD8_HUMAN	S|F	523|513	.|.	.|ENSP00000291440:V513F	R|V	-|-	3|1	2|0	CPAMD8|CPAMD8	16952496|16952496	1.000000|1.000000	0.71417|0.71417	0.458000|0.458000	0.27068|0.27068	0.392000|0.392000	0.30506|0.30506	4.290000|4.290000	0.59019|0.59019	1.184000|1.184000	0.42957|0.42957	0.467000|0.467000	0.42956|0.42956	AGG|GTT		0.567	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	Missense_Mutation	A	17091496	C	A	17091496	5	1	207	1	0	0	0	0	0	0	1	0	3795	521	18	3	4377	3	CPAMD8	19	17091496	Splice_Site	SNP	C	TCGA-24-0979-01A-01W-0486-08	562738	17091496	42037487	73	11991											
ZNF99	7652	broad.mit.edu	37	19	22941246	22941246	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr19:22941246C>A	ENST00000596209.1	-	4	1555	c.1465G>T	c.(1465-1467)Gct>Tct	p.A489S	ZNF99_ENST00000397104.3_Missense_Mutation_p.A398S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A398S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACTTAAAAGCTTTACCACAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	19											46	47	47					19																	22941246		2019	4199	6218	22733086	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1465G>T	19.37:g.22941246C>A	ENSP00000472969:p.Ala489Ser		22733086	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.582433	0.28180	.	.	ENSG00000213973	ENST00000397104	T	0.13420	2.59	1.47	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11623	0.0283	N	0.16166	0.38	0.09310	N	1	D	0.56287	0.975	P	0.58820	0.846	T	0.23084	-1.0198	9	0.27785	T	0.31	.	2.8845	0.05657	0.4928:0.3079:0.0:0.1992	.	398	A8MXY4	ZNF99_HUMAN	S	398	ENSP00000380293:A398S	ENSP00000380293:A398S	A	-	1	0	ZNF99	22733086	0.000000	0.05858	0.003000	0.11579	0.160000	0.22226	-0.800000	0.04555	-0.024000	0.13941	0.400000	0.26472	GCT		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		A	22941246	C	A	22941246	3	1	207	1	0	0	0	0	1	0	0	0	18204	797	28	3	1932	3	ZNF99	19	22941246	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	5849750	22941246	36187737	74	11992											
RYR1	6261	broad.mit.edu	37	19	39016137	39016137	+	Missense_Mutation	SNP	G	G	A	rs376338203		TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr19:39016137G>A	ENST00000359596.3	+	71	10621	c.10621G>A	c.(10621-10623)Gcc>Acc	p.A3541T	RYR1_ENST00000360985.3_Missense_Mutation_p.A3541T|RYR1_ENST00000355481.4_Missense_Mutation_p.A3536T|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3541					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A3541T(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GACCCGTTACGCCCTGGTGCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	19						G	THR/ALA,THR/ALA	0,4406		0,0,2203	67	50	56		10621,10606	4.2	1	19		56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	3541/5039,3536/5034	39016137	1,13005	2203	4300	6503	43707977	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10621G>A	19.37:g.39016137G>A	ENSP00000352608:p.Ala3541Thr		43707977	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094222	0.36952	0.0	1.16E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96716	-4.1;-4.1;-4.1	4.15	4.15	0.48705	.	0.085401	0.47852	U	0.000209	D	0.88665	0.6498	L	0.29908	0.895	0.33082	D	0.53673	P;P;P	0.42757	0.789;0.789;0.685	B;B;B	0.34418	0.182;0.182;0.089	D	0.87105	0.2181	10	0.09084	T	0.74	.	5.3762	0.16166	0.0974:0.0:0.5663:0.3363	.	3541;3536;3541	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	T	3541;3536;3541;461	ENSP00000352608:A3541T;ENSP00000347667:A3536T;ENSP00000354254:A3541T	ENSP00000347667:A3536T	A	+	1	0	RYR1	43707977	0.910000	0.30920	0.976000	0.42696	0.996000	0.88848	1.682000	0.37628	2.302000	0.77476	0.655000	0.94253	GCC		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39016137	G	A	39016137	3	1	207	1	0	0	0	0	1	0	0	0	13771	1087	38	1	10903	1	RYR1	19	39016137	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08	16074891	39016137	20112846	75	11993											
DTD1	92675	broad.mit.edu	37	20	18576815	18576815	+	Silent	SNP	G	G	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr20:18576815G>A	ENST00000377452.3	+	3	480	c.300G>A	c.(298-300)gaG>gaA	p.E100E	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	100					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.E100E(2)		large_intestine(4)|lung(1)|ovary(2)	7						TGCCCACGGAGCAGGCAGAGG	0.527																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	20											80	70	73					20																	18576815		2203	4300	6503	18524815	SO:0001819	synonymous_variant	92675			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"chromosome 20 open reading frame 88", "D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.300G>A	20.37:g.18576815G>A			18524815	A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	ENST00000377452.3	37	CCDS13138.1																																																																																				0.527	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820		A	18576815	G	A	18576815	2	1	207	1	0	0	0	0	0	0	0	1	4786	962	34	2		2	DTD1	20	18576815	Silent	SNP	G	TCGA-24-0979-01A-01W-0486-08		18576815	44448705	76	11994											
ZNF341	84905	broad.mit.edu	37	20	32371641	32371641	+	Missense_Mutation	SNP	A	A	G	rs372505263		TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr20:32371641A>G	ENST00000375200.1	+	12	2188	c.1823A>G	c.(1822-1824)tAt>tGt	p.Y608C	ZNF341_ENST00000342427.2_Missense_Mutation_p.Y601C	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y601C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGGGAGCATTATCTCAAACTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	20											83	71	75					20																	32371641		2203	4300	6503	31835302	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1823A>G	20.37:g.32371641A>G	ENSP00000364346:p.Tyr608Cys		31835302	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37		.	.	.	.	.	.	.	.	.	.	A	19.23	3.786880	0.70337	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.07908	3.15;3.15	4.45	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.391329	0.26457	N	0.024268	T	0.17577	0.0422	L	0.28694	0.88	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02654	-1.1128	10	0.39692	T	0.17	-9.591	14.2085	0.65750	1.0:0.0:0.0:0.0	.	549;608;601	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	C	601;608	ENSP00000344308:Y601C;ENSP00000364346:Y608C	ENSP00000344308:Y601C	Y	+	2	0	ZNF341	31835302	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.570000	0.90748	2.018000	0.59344	0.381000	0.24937	TAT		0.607	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				G	32371641	A	G	32371641	3	3	207	1	0	0	0	0	1	0	0	0	17857	449	16	4	1848	4	ZNF341	20	32371641	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	13794826	32371641	30653879	77	11995											
RBM12	10137	broad.mit.edu	37	20	34242182	34242182	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr20:34242182C>T	ENST00000374114.3	-	3	1326	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.D355N|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.D355N	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	355	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D355N(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCAAATGTATCTTGAGGGGAG	0.433											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	ovary(1)	20											150	146	147					20																	34242182		2203	4300	6503	33705596	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1063G>A	20.37:g.34242182C>T	ENSP00000363228:p.Asp355Asn	846	33705596	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413356	0.62511	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.35421	1.31;1.31;1.31	4.92	3.97	0.46021	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.068850	0.56097	D	0.000029	T	0.67031	0.2850	M	0.93808	3.46	0.80722	D	1	D	0.57257	0.979	D	0.64321	0.924	T	0.77859	-0.2431	10	0.72032	D	0.01	-11.4275	14.8219	0.70080	0.1448:0.8552:0.0:0.0	.	355	Q9NTZ6	RBM12_HUMAN	N	355;355;355;154	ENSP00000363228:D355N;ENSP00000352668:D355N;ENSP00000363217:D355N	ENSP00000339879:D154N	D	-	1	0	RBM12	33705596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	1.299000	0.44798	0.549000	0.68633	GAT		0.433	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		T	34242182	C	T	34242182	3	4	207	1	0	0	0	0	1	0	0	0	13116	913	32	2	1739	2	RBM12	20	34242182	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	1870541	34242182	28783338	78	11996											
HNF4A	3172	broad.mit.edu	37	20	43057024	43057024	+	Silent	SNP	G	G	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr20:43057024G>A	ENST00000316099.4	+	9	1268	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	HNF4A_ENST00000457232.1_Silent_p.L371L|HNF4A_ENST00000316673.4_Silent_p.L371L|HNF4A_ENST00000415691.2_Silent_p.L393L	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	393					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L371L(1)|p.L393L(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCTCACCTGATGCAGGAAC	0.602																																					Colon(79;2 1269 8820 14841 52347)											2	Substitution - coding silent(2)	ovary(2)	20											116	85	95					20																	43057024		2203	4300	6503	42490438	SO:0001819	synonymous_variant	3172			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1179G>A	20.37:g.43057024G>A			42490438	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	CCDS13330.1																																																																																				0.602	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			A	43057024	G	A	43057024	2	1	207	1	0	0	0	0	0	0	0	1	7253	1277	45	2		2	HNF4A	20	43057024	Silent	SNP	G	TCGA-24-0979-01A-01W-0486-08	8814842	43057024	19968496	79	11997											
PREX1	57580	broad.mit.edu	37	20	47324880	47324880	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr20:47324880C>A	ENST00000371941.3	-	6	723	c.701G>T	c.(700-702)tGc>tTc	p.C234F	PREX1_ENST00000396220.1_Missense_Mutation_p.C234F	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	234	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C234F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GATGTTGGAGCAAACGGTCTT	0.612																																																1	Substitution - Missense(1)	ovary(1)	20											139	143	141					20																	47324880		2203	4300	6503	46758287	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.701G>T	20.37:g.47324880C>A	ENSP00000361009:p.Cys234Phe		46758287	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303006	0.81136	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.62639	0.01;0.01	5.64	4.7	0.59300	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000010	T	0.79305	0.4423	M	0.80746	2.51	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.82686	-0.0334	10	0.87932	D	0	.	14.5157	0.67818	0.0:0.9298:0.0:0.0702	.	234	Q8TCU6	PREX1_HUMAN	F	234	ENSP00000361009:C234F;ENSP00000379522:C234F	ENSP00000361009:C234F	C	-	2	0	PREX1	46758287	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.487000	0.81328	1.392000	0.46585	0.655000	0.94253	TGC		0.612	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47324880	C	A	47324880	3	1	207	1	0	0	0	0	1	0	0	0	12479	710	25	3	4418	3	PREX1	20	47324880	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	4267856	47324880	15700640	80	11998											
RSPH1	89765	broad.mit.edu	37	21	43892958	43892958	+	Silent	SNP	T	T	C			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr21:43892958T>C	ENST00000291536.3	-	9	1067	c.900A>G	c.(898-900)gaA>gaG	p.E300E	RSPH1_ENST00000398352.3_Silent_p.E262E	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	300	Poly-Glu.				axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.E300E(1)		large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTCTAGTTTCTTCTTCTTCAG	0.383																																					Esophageal Squamous(23;63 706 6286 10288 12913)											1	Substitution - coding silent(1)	ovary(1)	21											136	118	124					21																	43892958		2203	4300	6503	42766027	SO:0001819	synonymous_variant	89765			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.900A>G	21.37:g.43892958T>C			42766027	A8MWV0|B2RBN9|Q3MJA1	Silent	SNP	ENST00000291536.3	37	CCDS13688.1																																																																																				0.383	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			C	43892958	T	C	43892958	2	2	207	1	0	0	0	0	0	0	0	1	13705	1606	56	4		4	RSPH1	21	43892958	Silent	SNP	T	TCGA-24-0979-01A-01W-0486-08		43892958	4236937	81	11999											
TRIOBP	11078	broad.mit.edu	37	22	38121000	38121000	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chr22:38121000G>A	ENST00000406386.3	+	7	2692	c.2437G>A	c.(2437-2439)Gac>Aac	p.D813N		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	813					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.D813N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CACCCAACAGGACAACCCCAG	0.517																																																1	Substitution - Missense(1)	ovary(1)	22											164	172	169					22																	38121000		1984	4175	6159	36450946	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2437G>A	22.37:g.38121000G>A	ENSP00000384312:p.Asp813Asn		36450946	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933141	0.52866	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21031	2.03	4.21	3.16	0.36331	.	.	.	.	.	T	0.15998	0.0385	L	0.42245	1.32	0.09310	N	0.999997	B	0.33694	0.421	B	0.29862	0.108	T	0.08638	-1.0712	9	0.30078	T	0.28	.	8.0841	0.30762	0.1166:0.0:0.8834:0.0	.	813	Q9H2D6	TARA_HUMAN	N	813	ENSP00000384312:D813N	ENSP00000384312:D813N	D	+	1	0	TRIOBP	36450946	0.002000	0.14202	0.017000	0.16124	0.540000	0.34992	0.617000	0.24359	2.185000	0.69588	0.460000	0.39030	GAC		0.517	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38121000	G	A	38121000	3	1	207	1	0	0	0	0	1	0	0	0	16553	1174	41	2	2455	2	TRIOBP	22	38121000	Missense_Mutation	SNP	G	TCGA-24-0979-01A-01W-0486-08		38121000	13183566	82	12000											
PHF8	23133	broad.mit.edu	37	X	54011432	54011432	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chrX:54011432C>G	ENST00000357988.5	-	18	2824	c.2466G>C	c.(2464-2466)tgG>tgC	p.W822C	PHF8_ENST00000322659.8_Missense_Mutation_p.W769C|PHF8_ENST00000338946.6_Missense_Mutation_p.W685C|PHF8_ENST00000338154.6_Missense_Mutation_p.W786C	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	822					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.W786C(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCTCGGTTCTCCAGTATGCTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	X											108	89	95					X																	54011432		2203	4300	6503	54028157	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2466G>C	X.37:g.54011432C>G	ENSP00000350676:p.Trp822Cys		54028157	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.76|13.76|13.76	2.332178|2.332178|2.332178	0.41297|0.41297|0.41297	.|.|.	.|.|.	ENSG00000172943|ENSG00000172943|ENSG00000172943	ENST00000443302|ENST00000396282;ENST00000375189|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|.|T;T;T;T	.|.|0.22134	.|.|2.56;2.3;2.28;1.97	5.61|5.61|5.61	4.69|4.69|4.69	0.59074|0.59074|0.59074	.|.|.	.|.|0.808276	.|.|0.11128	.|.|N	.|.|0.596654	T|T|T	0.26882|0.26882|0.26882	0.0658|0.0658|0.0658	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.46096|0.46096|0.46096	D|D|D	0.998864|0.998864|0.998864	.|.|P;D;D;D;D	.|.|0.57257	.|.|0.94;0.979;0.964;0.979;0.964	.|.|P;P;B;P;B	.|.|0.57324	.|.|0.818;0.534;0.338;0.534;0.43	T|T|T	0.02020|0.02020|0.02020	-1.1228|-1.1228|-1.1228	5|6|10	.|0.87932|0.54805	.|D|T	.|0|0.06	-8.211|-8.211|-8.211	11.8345|11.8345|11.8345	0.52316|0.52316|0.52316	0.0:0.634:0.366:0.0|0.0:0.634:0.366:0.0|0.0:0.634:0.366:0.0	.|.|.	.|.|308;786;685;721;822	.|.|B3KMV4;Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1	.|.|.;.;.;.;PHF8_HUMAN	Q|A|C	550|690;262|822;786;685;715;769	.|.|ENSP00000350676:W822C;ENSP00000338868:W786C;ENSP00000340051:W685C;ENSP00000319473:W769C	.|ENSP00000364335:G262A|ENSP00000319473:W769C	E|G|W	-|-|-	1|2|3	0|0|0	PHF8|PHF8|PHF8	54028157|54028157|54028157	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	1.156000|1.156000|1.156000	0.31712|0.31712|0.31712	2.361000|2.361000|2.361000	0.80049|0.80049|0.80049	0.529000|0.529000|0.529000	0.55759|0.55759|0.55759	GAG|GGA|TGG		0.597	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		G	54011432	C	G	54011432	3	3	207	1	0	0	0	0	1	0	0	0	11840	856	30	3	862	3	PHF8	23	54011432	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08		54011432	101259128	83	12001											
TRO	7216	broad.mit.edu	37	X	54950145	54950145	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chrX:54950145C>A	ENST00000173898.7	+	3	1292	c.1180C>A	c.(1180-1182)Ctg>Atg	p.L394M	TRO_ENST00000319167.8_Missense_Mutation_p.L394M|TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.L394M|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	394					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L394M(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGATGACTATCTGGCTCAGTT	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											35	41	39					X																	54950145		1950	4134	6084	54966870	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1180C>A	X.37:g.54950145C>A	ENSP00000173898:p.Leu394Met		54966870	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278761	0.40294	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.44881	0.91;0.91;0.91	2.89	1.03	0.20045	.	.	.	.	.	T	0.39963	0.1098	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71414	0.973;0.921	T	0.29822	-0.9999	8	.	.	.	.	3.5165	0.07727	0.0:0.5764:0.2625:0.161	.	394;394	Q96SX2;Q12816	.;TROP_HUMAN	M	394	ENSP00000173898:L394M;ENSP00000318278:L394M;ENSP00000364162:L394M	.	L	+	1	2	TRO	54966870	0.998000	0.40836	0.992000	0.48379	0.996000	0.88848	0.537000	0.23144	0.137000	0.18759	0.509000	0.49947	CTG		0.547	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		A	54950145	C	A	54950145	3	1	207	1	0	0	0	0	1	0	0	0	16574	912	32	3	1186	3	TRO	23	54950145	Missense_Mutation	SNP	C	TCGA-24-0979-01A-01W-0486-08	938713	54950145	100320415	84	12002											
BEX2	84707	broad.mit.edu	37	X	102564881	102564881	+	Silent	SNP	C	C	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chrX:102564881C>T	ENST00000372677.3	-	3	291	c.24G>A	c.(22-24)gcG>gcA	p.A8A	BEX2_ENST00000372674.1_Silent_p.A8A|BEX2_ENST00000536889.1_Silent_p.A40A	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	8					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A8A(1)		endometrium(1)|lung(1)|ovary(1)	3						GATTGTTTAACGCTCGTTCCT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	X											61	55	57					X																	102564881		2203	4300	6503	102451537	SO:0001819	synonymous_variant	84707			BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.24G>A	X.37:g.102564881C>T			102451537	B2R574|D3DXA2|F5H7H5|Q5JVV9	Silent	SNP	ENST00000372677.3	37	CCDS14505.1																																																																																				0.458	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	NM_032621		T	102564881	C	T	102564881	2	4	207	1	0	0	0	0	0	0	0	1	1411	523	19	1		1	BEX2	23	102564881	Silent	SNP	C	TCGA-24-0979-01A-01W-0486-08	47614736	102564881	52705679	85	12003											
DUSP9	1852	broad.mit.edu	37	X	152915600	152915600	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0979-01A-01W-0486-08	TCGA-24-0979-10B-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dc38f821-63a0-4336-83d4-9f1c87c3155d	e5fe43fa-670a-4ba0-8ca2-30100230cef6	g.chrX:152915600A>T	ENST00000342782.3	+	4	1260	c.995A>T	c.(994-996)aAc>aTc	p.N332I	DUSP9_ENST00000370167.4_Missense_Mutation_p.N332I			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	332	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N332I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAACTTCAACTTCATGGGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	X											231	201	212					X																	152915600		2203	4300	6503	152568794	SO:0001583	missense	1852			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.995A>T	X.37:g.152915600A>T	ENSP00000345853:p.Asn332Ile		152568794	D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	21.9|21.9	4.216033|4.216033	0.79352|0.79352	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000370167;ENST00000342782|ENST00000433144	D;D|.	0.86497|.	-2.13;-2.13|.	4.53|4.53	3.36|3.36	0.38483|0.38483	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);|.	0.077228|.	0.52532|.	D|.	0.000075|.	T|T	0.76772|0.76772	0.4034|0.4034	M|M	0.90483|0.90483	3.12|3.12	0.54753|0.54753	D|D	0.999985|0.999985	D|.	0.56968|.	0.978|.	D|.	0.70227|.	0.968|.	T|T	0.77267|0.77267	-0.2651|-0.2651	10|5	0.87932|.	D|.	0|.	.|.	8.5938|8.5938	0.33703|0.33703	0.9043:0.0:0.0957:0.0|0.9043:0.0:0.0957:0.0	.|.	332|.	Q99956|.	DUS9_HUMAN|.	I|S	332|303	ENSP00000359186:N332I;ENSP00000345853:N332I|.	ENSP00000345853:N332I|.	N|T	+|+	2|1	0|0	DUSP9|DUSP9	152568794|152568794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.998000|4.998000	0.63927|0.63927	0.693000|0.693000	0.31634|0.31634	0.430000|0.430000	0.28490|0.28490	AAC|ACT		0.592	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		T	152915600	A	T	152915600	3	4	207	1	0	0	0	0	1	0	0	0	4832	43	2	5	1005	5	DUSP9	23	152915600	Missense_Mutation	SNP	A	TCGA-24-0979-01A-01W-0486-08	50350719	152915600	2354960	86	12004											
CAP1	10487	genome.wustl.edu	37	1	40530176	40530176	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr1:40530176A>G	ENST00000372797.3	+	6	1030	c.469A>G	c.(469-471)Atg>Gtg	p.M157V	CAP1_ENST00000372792.2_Missense_Mutation_p.M157V|CAP1_ENST00000372802.1_Missense_Mutation_p.M156V|CAP1_ENST00000372798.1_Missense_Mutation_p.M156V|CAP1_ENST00000340450.3_Missense_Mutation_p.M156V|CAP1_ENST00000372805.3_Missense_Mutation_p.M157V	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	308					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M157V(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGAAAGAAATGAATGATGC	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											111	106	108					1																	40530176		1864	4101	5965	40302763	SO:0001583	missense	10487			L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.469A>G	1.37:g.40530176A>G	ENSP00000361883:p.Met157Val		40302763	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000372797.3	37	CCDS41309.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972690	0.74246	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000427843;ENST00000424977;ENST00000417287	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.15	4.0	0.46444	Adenylate cyclase-associated CAP, N-terminal (2);	0.035871	0.85682	D	0.000000	T	0.37571	0.1008	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.72075	0.976;0.966	T	0.19257	-1.0311	10	0.87932	D	0	-13.4392	10.5559	0.45117	0.8553:0.0:0.0:0.1447	.	104;157	E7ENY9;Q01518	.;CAP1_HUMAN	V	157;156;157;157;157;157;157;134;156;156;157;156;157;157;157	ENSP00000361883:M157V;ENSP00000361888:M156V;ENSP00000398475:M157V;ENSP00000403198:M157V;ENSP00000408561:M157V;ENSP00000410586:M157V;ENSP00000361878:M157V;ENSP00000361884:M156V;ENSP00000344832:M156V;ENSP00000361891:M157V;ENSP00000412859:M156V;ENSP00000413656:M157V;ENSP00000413383:M157V;ENSP00000400943:M157V	ENSP00000344832:M156V	M	+	1	0	CAP1	40302763	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.312000	0.59154	0.786000	0.33708	-0.341000	0.08007	ATG		0.418	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000013109.1	NM_006367		G	40530176	A	G	40530176	3	3	208	1	0	0	0	0	1	0	0	0	2619	101	4	4	487	4	CAP1	1	40530176	Missense_Mutation	SNP	A	TCGA-24-0980-01A-01W-0421-09		40530176	208720445	1	12005											
GBP7	388646	genome.wustl.edu	37	1	89637595	89637595	+	Silent	SNP	T	T	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr1:89637595T>A	ENST00000294671.2	-	2	162	c.24A>T	c.(22-24)ccA>ccT	p.P8P		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	8	GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P8P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		ACACTGGGCCTGGCATGTGGA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	1											124	122	122					1																	89637595		2203	4300	6503	89410183	SO:0001819	synonymous_variant	388646			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.24A>T	1.37:g.89637595T>A			89410183		Silent	SNP	ENST00000294671.2	37	CCDS720.1																																																																																				0.478	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		A	89637595	T	A	89637595	2	1	208	1	0	0	0	0	0	0	0	1	6279	1567	55	5		5	GBP7	1	89637595	Silent	SNP	T	TCGA-24-0980-01A-01W-0421-09	49107419	89637595	159613026	2	12006											
ANKRD35	148741	genome.wustl.edu	37	1	145561130	145561130	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr1:145561130C>G	ENST00000355594.4	+	10	905	c.818C>G	c.(817-819)cCt>cGt	p.P273R	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	273								p.P273R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTTCTCCTCCTAAGAGCTCA	0.547																																					Melanoma(9;127 754 22988 51047)											1	Substitution - Missense(1)	ovary(1)	1											38	45	42					1																	145561130		2203	4300	6503	144272487	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.818C>G	1.37:g.145561130C>G	ENSP00000347802:p.Pro273Arg		144272487	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	0.410	-0.913983	0.02415	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.68479	-0.33	5.77	4.86	0.63082	.	0.119641	0.38381	N	0.001719	T	0.46737	0.1408	L	0.29908	0.895	0.39258	D	0.964157	P	0.41366	0.747	B	0.43508	0.422	T	0.55373	-0.8151	10	0.52906	T	0.07	-6.0623	13.2862	0.60245	0.0:0.8414:0.1586:0.0	.	273	Q8N283	ANR35_HUMAN	R	182;273	ENSP00000347802:P273R	ENSP00000347802:P273R	P	+	2	0	ANKRD35	144272487	0.079000	0.21365	0.186000	0.23195	0.084000	0.17831	0.432000	0.21461	1.575000	0.49775	-0.150000	0.13652	CCT		0.547	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		G	145561130	C	G	145561130	3	3	208	1	0	0	0	0	1	0	0	0	664	681	24	3	856	3	ANKRD35	1	145561130	Missense_Mutation	SNP	C	TCGA-24-0980-01A-01W-0421-09	55923535	145561130	103689491	3	12007											
SLC45A3	85414	genome.wustl.edu	37	1	205631993	205631993	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr1:205631993G>A	ENST00000367145.3	-	3	1221	c.926C>T	c.(925-927)cCg>cTg	p.P309L	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	309					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.P309L(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CTCGGTGCCCGGCTCAGCTCT	0.637			T	"ETV1, ETV5, ELK4, ERG"	prostate																																		Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	1	Substitution - Missense(1)	ovary(1)	1											39	42	41					1																	205631993		2203	4300	6503	203898616	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.926C>T	1.37:g.205631993G>A	ENSP00000356113:p.Pro309Leu		203898616	A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109833	0.37242	.	.	ENSG00000158715	ENST00000367145	D	0.89939	-2.59	5.13	4.21	0.49690	Major facilitator superfamily domain, general substrate transporter (1);	0.050463	0.85682	N	0.000000	D	0.91707	0.7378	L	0.61218	1.895	0.54753	D	0.999987	D;D	0.71674	0.998;0.998	P;P	0.57204	0.815;0.815	D	0.89958	0.4084	10	0.38643	T	0.18	-4.63	16.3775	0.83410	0.0716:0.0:0.9284:0.0	.	309;309	A8K2U9;Q96JT2	.;S45A3_HUMAN	L	309	ENSP00000356113:P309L	ENSP00000356113:P309L	P	-	2	0	SLC45A3	203898616	1.000000	0.71417	0.996000	0.52242	0.128000	0.20619	5.398000	0.66308	0.572000	0.29383	-0.797000	0.03246	CCG		0.637	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		A	205631993	G	A	205631993	3	1	208	1	0	0	0	0	1	0	0	0	14645	1116	39	1	747	1	SLC45A3	1	205631993	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09	60070863	205631993	43618628	4	12008											
USP34	9736	genome.wustl.edu	37	2	61475758	61475758	+	Silent	SNP	A	A	G			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr2:61475758A>G	ENST00000398571.2	-	49	6358	c.6282T>C	c.(6280-6282)aaT>aaC	p.N2094N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2094	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.N2094N(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCGTGACCATATTAAATGTGT	0.333																																																1	Substitution - coding silent(1)	ovary(1)	2											106	103	104					2																	61475758		1850	4097	5947	61329262	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6282T>C	2.37:g.61475758A>G			61329262	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																				0.333	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			G	61475758	A	G	61475758	2	3	208	1	0	0	0	0	0	0	0	1	17065	446	16	4		4	USP34	2	61475758	Silent	SNP	A	TCGA-24-0980-01A-01W-0421-09		61475758	181723615	5	12009											
CLEC4F	165530	genome.wustl.edu	37	2	71043821	71043821	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr2:71043821G>C	ENST00000272367.2	-	4	768	c.692C>G	c.(691-693)gCc>gGc	p.A231G	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A231G	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	231					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A231G(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTCCAAACTGGCATTCAACAT	0.408																																					Colon(107;10 2157 6841 26035)											1	Substitution - Missense(1)	ovary(1)	2											79	77	78					2																	71043821		2203	4300	6503	70897329	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.692C>G	2.37:g.71043821G>C	ENSP00000272367:p.Ala231Gly		70897329	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	3.764	-0.049016	0.07407	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.42900	0.96;0.96	3.51	0.409	0.16382	.	0.492559	0.15114	N	0.279793	T	0.41282	0.1152	L	0.41236	1.265	0.09310	N	1	D;D	0.67145	0.996;0.996	P;D	0.65443	0.906;0.935	T	0.28332	-1.0047	10	0.17369	T	0.5	.	1.7502	0.02970	0.1232:0.1969:0.4589:0.221	.	231;231	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	G	231	ENSP00000272367:A231G;ENSP00000390581:A231G	ENSP00000272367:A231G	A	-	2	0	CLEC4F	70897329	0.000000	0.05858	0.041000	0.18516	0.054000	0.15201	-0.384000	0.07389	0.069000	0.16605	0.313000	0.20887	GCC		0.408	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		C	71043821	G	C	71043821	3	2	208	1	0	0	0	0	1	0	0	0	3516	1203	42	3	1093	3	CLEC4F	2	71043821	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09	9568063	71043821	172155552	6	12010											
TTN	7273	genome.wustl.edu	37	2	179395464	179395464	+	Missense_Mutation	SNP	T	T	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr2:179395464T>A	ENST00000591111.1	-	308	101179	c.100955A>T	c.(100954-100956)aAa>aTa	p.K33652I	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K26353I|TTN_ENST00000342992.6_Missense_Mutation_p.K32725I|TTN_ENST00000460472.2_Missense_Mutation_p.K26228I|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K26420I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K35293I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585625.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33652	Ig-like 148.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K32723I(1)|p.K26228I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTCTGCTTTCAGGAACTG	0.463																																																2	Substitution - Missense(2)	ovary(2)	2											106	101	102					2																	179395464		1890	4108	5998	179103710	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100955A>T	2.37:g.179395464T>A	ENSP00000465570:p.Lys33652Ile		179103710	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	15.61	2.885000	0.51908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.99	4.99	0.66335	Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49949	0.1587	L	0.60455	1.87	0.36266	D	0.854834	D;D;D;D	0.61080	0.989;0.989;0.989;0.985	P;P;P;D	0.65323	0.892;0.892;0.892;0.934	T	0.62637	-0.6812	9	0.87932	D	0	.	14.7021	0.69162	0.0:0.0:0.0:1.0	.	26228;26353;26420;33652	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	32725;26228;26420;26353;26225	ENSP00000343764:K32725I;ENSP00000434586:K26228I;ENSP00000340554:K26420I;ENSP00000352154:K26353I	ENSP00000340554:K26420I	K	-	2	0	TTN	179103710	1.000000	0.71417	0.991000	0.47740	0.758000	0.43043	2.476000	0.45171	1.882000	0.54519	0.374000	0.22700	AAA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179395464	T	A	179395464	3	1	208	1	0	0	0	0	1	0	0	0	16735	1841	64	5	2121	5	TTN	2	179395464	Missense_Mutation	SNP	T	TCGA-24-0980-01A-01W-0421-09	108351643	179395464	63803909	7	12011											
HDAC11	79885	genome.wustl.edu	37	3	13545660	13545660	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr3:13545660A>T	ENST00000295757.3	+	9	899	c.716A>T	c.(715-717)gAg>gTg	p.E239V	HDAC11_ENST00000402271.1_Missense_Mutation_p.E160V|HDAC11_ENST00000402259.1_Missense_Mutation_p.E73V|HDAC11_ENST00000433119.1_Nonsense_Mutation_p.R197*|HDAC11_ENST00000404040.1_Missense_Mutation_p.E139V|HDAC11_ENST00000437379.2_Missense_Mutation_p.E211V|HDAC11_ENST00000522202.1_Missense_Mutation_p.E188V|HDAC11_ENST00000446613.2_Missense_Mutation_p.E47V|HDAC11_ENST00000404548.1_Nonsense_Mutation_p.R107*|HDAC11_ENST00000405025.1_Nonsense_Mutation_p.R79*	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	239	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)	p.E239V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GATAAGGTGGAGAGGAACATC	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											98	90	93					3																	13545660		2203	4300	6503	13520660	SO:0001583	missense	79885			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.716A>T	3.37:g.13545660A>T	ENSP00000295757:p.Glu239Val		13520660	B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Nonsense_Mutation	SNP	ENST00000295757.3	37	CCDS2615.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.52|12.52	1.961646|1.961646	0.34659|0.34659	.|.	.|.	ENSG00000163517|ENSG00000163517	ENST00000295757;ENST00000402259;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000522202;ENST00000437379|ENST00000433119;ENST00000404548;ENST00000405025	T;T;T;T;T;T;T|.	0.71579|.	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58|.	5.65|5.65	0.258|0.258	0.15578|0.15578	Histone deacetylase domain (2);|.	0.281721|.	0.39146|.	N|.	0.001459|.	T|.	0.43722|.	0.1260|.	L|L	0.35487|0.35487	1.065|1.065	0.35006|0.35006	D|D	0.756478|0.756478	B;B|.	0.19200|.	0.002;0.034|.	B;B|.	0.23018|.	0.02;0.043|.	T|.	0.52689|.	-0.8542|.	10|.	0.87932|0.87932	D|D	0|0	-1.8835|-1.8835	4.9396|4.9396	0.13958|0.13958	0.6133:0.1455:0.2412:0.0|0.6133:0.1455:0.2412:0.0	.|.	188;239|.	B4DDK1;Q96DB2|.	.;HDA11_HUMAN|.	V|X	239;73;160;47;139;188;211|197;107;79	ENSP00000295757:E239V;ENSP00000384706:E73V;ENSP00000384123:E160V;ENSP00000401487:E47V;ENSP00000385475:E139V;ENSP00000429794:E188V;ENSP00000395188:E211V|.	ENSP00000295757:E239V|ENSP00000385528:R107X	E|R	+|+	2|1	0|2	HDAC11|HDAC11	13520660|13520660	0.899000|0.899000	0.30636|0.30636	0.983000|0.983000	0.44433|0.44433	0.003000|0.003000	0.03518|0.03518	1.950000|1.950000	0.40323|0.40323	0.096000|0.096000	0.17463|0.17463	-0.378000|-0.378000	0.06908|0.06908	GAG|AGA		0.582	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		T	13545660	A	T	13545660	3	4	208	1	0	0	0	0	1	0	0	0	7006	304	11	5	750	5	HDAC11	3	13545660	Missense_Mutation	SNP	A	TCGA-24-0980-01A-01W-0421-09		13545660	184476770	8	12012											
FGD5	152273	genome.wustl.edu	37	3	14861824	14861824	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr3:14861824G>A	ENST00000285046.5	+	1	1356	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	FGD5_ENST00000543601.1_Missense_Mutation_p.V175M	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	416					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.V175M(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGTGGTGGTCGTGCTGGAGGA	0.682																																																1	Substitution - Missense(1)	ovary(1)	3											25	29	28					3																	14861824		2059	4177	6236	14836828	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1246G>A	3.37:g.14861824G>A	ENSP00000285046:p.Val416Met		14836828	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	8.491	0.862099	0.17178	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.78924	-1.22;-1.02	5.03	-10.1	0.00402	.	0.850128	0.10241	N	0.698480	T	0.44244	0.1284	N	0.11201	0.11	0.09310	N	1	B;B	0.31351	0.32;0.181	B;B	0.18561	0.022;0.006	T	0.37709	-0.9694	10	0.30854	T	0.27	-1.9286	2.8404	0.05527	0.2113:0.4016:0.2074:0.1796	.	175;416	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	M	416;175	ENSP00000285046:V416M;ENSP00000445949:V175M	ENSP00000285046:V416M	V	+	1	0	FGD5	14836828	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.928000	0.03980	-4.386000	0.00052	-1.031000	0.02408	GTG		0.682	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14861824	G	A	14861824	3	1	208	1	0	0	0	0	1	0	0	0	5836	1145	40	1	1248	1	FGD5	3	14861824	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09	1316164	14861824	183160606	9	12013											
MAP4	4134	genome.wustl.edu	37	3	48019417	48019417	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr3:48019417G>A	ENST00000360240.6	-	3	748	c.230C>T	c.(229-231)cCa>cTa	p.P77L	MAP4_ENST00000439356.1_Missense_Mutation_p.P77L|MAP4_ENST00000383737.4_Missense_Mutation_p.P77L|MAP4_ENST00000434267.1_Missense_Mutation_p.P77L|MAP4_ENST00000426837.2_Missense_Mutation_p.P94L|MAP4_ENST00000395734.3_Missense_Mutation_p.P77L	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	77					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.P77L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TTTAGAAGATGGAGTATCTGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											202	181	188					3																	48019417		2203	4300	6503	47994421	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.230C>T	3.37:g.48019417G>A	ENSP00000353375:p.Pro77Leu		47994421	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.431167|3.431167	0.62844|0.62844	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000423088|ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000434267;ENST00000439356	.|T;T;T;T;T;T	.|0.45276	.|0.97;0.97;0.9;0.97;1.38;1.38	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|.	.|.	.|.	.|.	T|T	0.57446|0.57446	0.2054|0.2054	M|M	0.62723|0.62723	1.935|1.935	0.33518|0.33518	D|D	0.59196|0.59196	.|P;D;D	.|0.63046	.|0.675;0.992;0.961	.|B;P;P	.|0.59948	.|0.295;0.866;0.617	T|T	0.69079|0.69079	-0.5240|-0.5240	5|9	.|0.87932	.|D	.|0	-0.0368|-0.0368	13.5529|13.5529	0.61743|0.61743	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|77;77;77	.|Q86V26;P27816-6;P27816	.|.;.;MAP4_HUMAN	Y|L	84|77;77;94;77;77;77	.|ENSP00000373243:P77L;ENSP00000379083:P77L;ENSP00000407602:P94L;ENSP00000353375:P77L;ENSP00000402767:P77L;ENSP00000397414:P77L	.|ENSP00000353375:P77L	H|P	-|-	1|2	0|0	MAP4|MAP4	47994421|47994421	0.947000|0.947000	0.32204|0.32204	0.977000|0.977000	0.42913|0.42913	0.888000|0.888000	0.51559|0.51559	3.770000|3.770000	0.55310|0.55310	2.651000|2.651000	0.90000|0.90000	0.557000|0.557000	0.71058|0.71058	CAT|CCA		0.403	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		A	48019417	G	A	48019417	3	1	208	1	0	0	0	0	1	0	0	0	9258	1348	47	2	4667	2	MAP4	3	48019417	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09	33157593	48019417	150003013	10	12014											
PHLDB2	90102	genome.wustl.edu	37	3	111672808	111672808	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr3:111672808G>A	ENST00000431670.2	+	12	3215	c.2804G>A	c.(2803-2805)tGt>tAt	p.C935Y	PHLDB2_ENST00000495180.1_Missense_Mutation_p.C426Y|PHLDB2_ENST00000481953.1_Missense_Mutation_p.C892Y|PHLDB2_ENST00000412622.1_Missense_Mutation_p.C892Y|PHLDB2_ENST00000393925.3_Missense_Mutation_p.C935Y|PHLDB2_ENST00000393923.3_Missense_Mutation_p.C919Y	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	935						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.C892Y(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGTAACAGCTGTGGAAGTGTG	0.542																																																1	Substitution - Missense(1)	ovary(1)	3											92	77	82					3																	111672808		2203	4300	6503	113155498	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2804G>A	3.37:g.111672808G>A	ENSP00000405405:p.Cys935Tyr		113155498	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529950	0.85706	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.41065	1.37;1.22;1.38;1.35;1.22;1.38;1.01	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.982;0.999;1.0;1.0	P;D;D;D	0.87578	0.682;0.99;0.998;0.997	T	0.63892	-0.6534	10	0.56958	D	0.05	.	16.5746	0.84633	0.0:0.0:1.0:0.0	.	426;935;892;919	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	Y	919;935;892;892;935;892;426	ENSP00000377500:C919Y;ENSP00000405405:C935Y;ENSP00000405292:C892Y;ENSP00000418296:C892Y;ENSP00000377502:C935Y;ENSP00000418319:C892Y;ENSP00000420303:C426Y	ENSP00000377500:C919Y	C	+	2	0	PHLDB2	113155498	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.796000	0.85898	2.721000	0.93114	0.655000	0.94253	TGT		0.542	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		A	111672808	G	A	111672808	3	1	208	1	0	0	0	0	1	0	0	0	11852	1377	48	2	2931	2	PHLDB2	3	111672808	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09	63653391	111672808	86349622	11	12015											
PCDHA11	56138	genome.wustl.edu	37	5	140249861	140249861	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr5:140249861C>G	ENST00000398640.2	+	1	1173	c.1173C>G	c.(1171-1173)caC>caG	p.H391Q	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCACGTTCCCTTCA	0.592																																																0			5											124	112	116					5																	140249861		2203	4300	6503	140230045	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1173C>G	5.37:g.140249861C>G	ENSP00000381636:p.His391Gln		140230045	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.253219	0.01457	.	.	ENSG00000249158	ENST00000398640	T	0.50001	0.76	5.7	-9.79	0.00494	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.24509	0.0594	L	0.28504	0.86	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.20384	0.029;0.006	T	0.23119	-1.0197	9	0.41790	T	0.15	.	0.6599	0.00841	0.2322:0.26:0.1528:0.3549	.	391;391	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Q	391	ENSP00000381636:H391Q	ENSP00000381636:H391Q	H	+	3	2	PCDHA11	140230045	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-7.260000	0.00040	-1.647000	0.01511	-0.257000	0.10917	CAC		0.592	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		G	140249861	C	G	140249861	3	3	208	1	0	0	0	0	1	0	0	0	11521	535	19	3	1175	3	PCDHA11	5	140249861	Missense_Mutation	SNP	C	TCGA-24-0980-01A-01W-0421-09		140249861	40665399	12	12016											
NSD1	64324	genome.wustl.edu	37	5	176687050	176687050	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr5:176687050C>A	ENST00000439151.2	+	14	5072	c.5027C>A	c.(5026-5028)gCt>gAt	p.A1676D	NSD1_ENST00000354179.4_Missense_Mutation_p.A1407D|NSD1_ENST00000361032.4_Missense_Mutation_p.A1573D|NSD1_ENST00000347982.4_Missense_Mutation_p.A1407D	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1676					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A1676D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTTGCCTGGCTGCTGGGTCA	0.483			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	1	Substitution - Missense(1)	ovary(1)	5											125	115	118					5																	176687050		2203	4300	6503	176619656	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5027C>A	5.37:g.176687050C>A	ENSP00000395929:p.Ala1676Asp		176619656	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316698	0.95682	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93	5.51	5.51	0.81932	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000005	D	0.97651	0.9230	M	0.75085	2.285	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.986	D	0.97938	1.0324	10	0.72032	D	0.01	.	19.783	0.96424	0.0:1.0:0.0:0.0	.	1407;1573;1676	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	D	1407;1676;1407;1573	ENSP00000346111:A1407D;ENSP00000395929:A1676D;ENSP00000343209:A1407D;ENSP00000354310:A1573D	ENSP00000343209:A1407D	A	+	2	0	NSD1	176619656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.752000	0.94435	0.467000	0.42956	GCT		0.483	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		A	176687050	C	A	176687050	3	1	208	1	0	0	0	0	1	0	0	0	10669	797	28	3	5077	3	NSD1	5	176687050	Missense_Mutation	SNP	C	TCGA-24-0980-01A-01W-0421-09	36437189	176687050	4228210	13	12017											
ZNF454	285676	genome.wustl.edu	37	5	178391968	178391968	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr5:178391968C>G	ENST00000320129.3	+	5	866	c.563C>G	c.(562-564)tCt>tGt	p.S188C	ZNF454_ENST00000519564.1_Missense_Mutation_p.S188C	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	188					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.S188C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAAGTCTTCTCTAAGAGTTCA	0.343																																																1	Substitution - Missense(1)	ovary(1)	5											49	51	50					5																	178391968		2203	4300	6503	178324574	SO:0001583	missense	285676			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.563C>G	5.37:g.178391968C>G	ENSP00000326249:p.Ser188Cys		178324574	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965922	0.18659	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.36878	1.23;1.23	4.61	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.736837	0.11296	N	0.578702	T	0.25121	0.0610	L	0.41124	1.26	0.20873	N	0.999839	P	0.35456	0.502	B	0.32762	0.152	T	0.27806	-1.0063	10	0.72032	D	0.01	-8.6688	2.9809	0.05953	0.1805:0.5452:0.1749:0.0993	.	188	Q8N9F8	ZN454_HUMAN	C	188	ENSP00000326249:S188C;ENSP00000430354:S188C	ENSP00000326249:S188C	S	+	2	0	ZNF454	178324574	0.000000	0.05858	0.992000	0.48379	0.902000	0.53008	0.687000	0.25407	1.300000	0.44818	0.555000	0.69702	TCT		0.343	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		G	178391968	C	G	178391968	3	3	208	1	0	0	0	0	1	0	0	0	17923	913	32	3	577	3	ZNF454	5	178391968	Missense_Mutation	SNP	C	TCGA-24-0980-01A-01W-0421-09	1704918	178391968	2523292	14	12018											
GPX6	257202	genome.wustl.edu	37	6	28472134	28472134	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr6:28472134G>C	ENST00000361902.1	-	5	650	c.601C>G	c.(601-603)Cag>Gag	p.Q201E	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000474923.1_Silent_p.T167T	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	201					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.Q201E(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTGGAGCCTGGTGGAACCAA	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											142	134	136					6																	28472134		2022	4216	6238	28580113	SO:0001583	missense	257202				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"glutathione peroxidase pseudogene 3"	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.601C>G	6.37:g.28472134G>C	ENSP00000354581:p.Gln201Glu		28580113	Q4PJ17	Missense_Mutation	SNP	ENST00000361902.1	37	CCDS43432.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255435	0.22965	.	.	ENSG00000198704	ENST00000361902	T	0.03663	3.85	4.4	-4.43	0.03568	Thioredoxin-like fold (2);	1.096880	0.06846	N	0.796470	T	0.00967	0.0032	L	0.28608	0.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43523	-0.9386	10	0.25751	T	0.34	.	12.1185	0.53878	0.0:0.1012:0.237:0.6618	.	201	P59796	GPX6_HUMAN	E	201	ENSP00000354581:Q201E	ENSP00000354581:Q201E	Q	-	1	0	GPX6	28580113	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.784000	0.04633	-0.953000	0.03645	-0.169000	0.13324	CAG		0.512	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1			C	28472134	G	C	28472134	3	2	208	1	0	0	0	0	1	0	0	0	6744	1357	47	3	68	3	GPX6	6	28472134	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09		28472134	142642933	15	12019											
BCAP29	55973	genome.wustl.edu	37	7	107221265	107221265	+	Silent	SNP	A	A	T			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr7:107221265A>T	ENST00000005259.4	+	2	387	c.48A>T	c.(46-48)atA>atT	p.I16I	BCAP29_ENST00000465919.1_Intron|RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000379117.2_Silent_p.I16I|BCAP29_ENST00000494086.1_Intron|BCAP29_ENST00000379119.2_Silent_p.I16I|BCAP29_ENST00000445771.2_Silent_p.I16I	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	16					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.I16I(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						ATGCCGAAATAGGACTCATTT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	7											103	92	96					7																	107221265		2203	4300	6503	107008501	SO:0001819	synonymous_variant	55973				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.48A>T	7.37:g.107221265A>T			107008501	G5E9L4|O95003	Silent	SNP	ENST00000005259.4	37	CCDS34731.1																																																																																				0.358	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		T	107221265	A	T	107221265	2	4	208	1	0	0	0	0	0	0	0	1	1346	410	15	5		5	BCAP29	7	107221265	Silent	SNP	A	TCGA-24-0980-01A-01W-0421-09		107221265	51917398	16	12020											
OR2A5	393046	genome.wustl.edu	37	7	143747797	143747797	+	Silent	SNP	C	C	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr7:143747797C>A	ENST00000408906.2	+	1	337	c.303C>A	c.(301-303)acC>acA	p.T101T		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T101T(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CAATGCAGACCTTTTTATACA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	7											151	149	150					7																	143747797		2106	4252	6358	143378730	SO:0001819	synonymous_variant	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.303C>A	7.37:g.143747797C>A			143378730	B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	CCDS43668.1																																																																																				0.428	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			A	143747797	C	A	143747797	2	1	208	1	0	0	0	0	0	0	0	1	10981	668	24	3		3	OR2A5	7	143747797	Silent	SNP	C	TCGA-24-0980-01A-01W-0421-09	36526532	143747797	15390866	17	12021											
LOC645961	645961	genome.wustl.edu	37	9	90745589	90745589	+	IGR	SNP	C	C	T			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr9:90745589C>T								U6 (132339 upstream) : U3 (243594 downstream)																							AGATTGGGCTCCTAAGCTCCT	0.592																																																0			9											2	3	3					9																	90745589		594	1418	2012	89935409	SO:0001628	intergenic_variant	645961																															9.37:g.90745589C>T			89935409		RNA	SNP		37																																																																																				0	0.592									T	90745589	C	T	90745589	1	4	208	0	1	0	0	0	0	0	0	0	8883	855	30	2		2	LOC645961	9	90745589	IGR	SNP	C	TCGA-24-0980-01A-01W-0421-09		90745589	50467842	18	12022											
CCDC88B	283234	genome.wustl.edu	37	11	64120233	64120233	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr11:64120233C>T	ENST00000356786.5	+	20	3418	c.3374C>T	c.(3373-3375)gCc>gTc	p.A1125V	CCDC88B_ENST00000359902.2_Missense_Mutation_p.A277V|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1125						membrane (GO:0016020)		p.A1125V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCTGCAGGCCCAGCGGGCC	0.672																																																1	Substitution - Missense(1)	ovary(1)	11											27	31	30					11																	64120233		2199	4287	6486	63876809	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3374C>T	11.37:g.64120233C>T	ENSP00000349238:p.Ala1125Val		63876809	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	17.58	3.425410	0.62733	.	.	ENSG00000168071	ENST00000356786;ENST00000359902	T;T	0.48201	1.82;0.82	3.95	3.95	0.45737	.	.	.	.	.	T	0.57695	0.2071	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.996;0.991;0.996	D;P;D	0.63381	0.914;0.86;0.914	T	0.59380	-0.7465	9	0.56958	D	0.05	.	11.6616	0.51349	0.0:1.0:0.0:0.0	.	1125;261;1125	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	V	1125;277	ENSP00000349238:A1125V;ENSP00000352974:A277V	ENSP00000349238:A1125V	A	+	2	0	CCDC88B	63876809	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.909000	0.48758	2.196000	0.70406	0.462000	0.41574	GCC		0.672	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		T	64120233	C	T	64120233	3	4	208	1	0	0	0	0	1	0	0	0	2864	739	26	2	3452	2	CCDC88B	11	64120233	Missense_Mutation	SNP	C	TCGA-24-0980-01A-01W-0421-09		64120233	70886283	19	12023											
ATM	472	genome.wustl.edu	37	11	108202174	108202174	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr11:108202174G>A	ENST00000452508.2	+	52	7708	c.7519G>A	c.(7519-7521)Gac>Aac	p.D2507N	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.D2507N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2507	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGGTAGAGAGACGGAATGAA	0.348			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	1	Unknown(1)	ovary(1)	11	GRCh37	CD004352	ATM	D							58	57	57					11																	108202174		2201	4298	6499	107707384	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7519G>A	11.37:g.108202174G>A	ENSP00000388058:p.Asp2507Asn		107707384	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	9.201	1.028408	0.19512	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.81499	-1.5;-1.5	5.43	0.194	0.15143	PIK-related kinase (1);Armadillo-type fold (1);	0.649988	0.17397	N	0.175692	T	0.54255	0.1847	N	0.17474	0.49	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40117	-0.9580	10	0.02654	T	1	.	2.4914	0.04611	0.2822:0.13:0.4697:0.1181	.	2507	Q13315	ATM_HUMAN	N	2507	ENSP00000278616:D2507N;ENSP00000388058:D2507N	ENSP00000278616:D2507N	D	+	1	0	ATM	107707384	0.885000	0.30320	0.336000	0.25522	0.966000	0.64601	2.410000	0.44592	-0.005000	0.14395	0.467000	0.42956	GAC		0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		A	108202174	G	A	108202174	3	1	208	1	0	0	0	0	1	0	0	0	1109	942	33	2	7717	2	ATM	11	108202174	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09	44081941	108202174	26804342	20	12024											
KRT73	319101	genome.wustl.edu	37	12	53007473	53007473	+	Splice_Site	SNP	T	T	G			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr12:53007473T>G	ENST00000305748.3	-	5	1017	c.983A>C	c.(982-984)aAg>aCg	p.K328T	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	328	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.K328T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGCCTCACCTTGGTCTGGTA	0.602																																																1	Substitution - Missense(1)	ovary(1)	12											83	75	78					12																	53007473		2203	4300	6503	51293740	SO:0001630	splice_region_variant	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.984+1A>C	12.37:g.53007473T>G			51293740	Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317281	0.81469	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;T	0.91740	-2.9;-1.39	4.91	4.91	0.64330	Filament (1);	0.000000	0.52532	D	0.000071	D	0.97399	0.9149	H	0.99299	4.505	0.44627	D	0.997601	D	0.71674	0.998	D	0.72075	0.976	D	0.97103	0.9799	10	0.87932	D	0	.	7.7853	0.29089	0.0:0.1288:0.0:0.8712	.	328	Q86Y46	K2C73_HUMAN	T	328;73	ENSP00000307014:K328T;ENSP00000449081:K73T	ENSP00000307014:K328T	K	-	2	0	KRT73	51293740	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.458000	0.53014	1.986000	0.57962	0.533000	0.62120	AAG		0.602	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	Missense_Mutation	G	53007473	T	G	53007473	5	3	208	1	0	0	0	0	0	0	1	0	8486	1623	56	5	659	5	KRT73	12	53007473	Splice_Site	SNP	T	TCGA-24-0980-01A-01W-0421-09		53007473	80844422	21	12025											
RPS6KL1	83694	genome.wustl.edu	37	14	75373786	75373786	+	Silent	SNP	T	T	C			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr14:75373786T>C	ENST00000555647.1	-	12	1868	c.1581A>G	c.(1579-1581)gaA>gaG	p.E527E	RPS6KL1_ENST00000557413.1_Silent_p.E527E|RPS6KL1_ENST00000354625.2_Silent_p.E496E|RPS6KL1_ENST00000358328.4_Silent_p.E527E			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	527	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E527E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TGACACCACCTTCTCCCATGC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	14											180	175	177					14																	75373786		2203	4300	6503	74443539	SO:0001819	synonymous_variant	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1581A>G	14.37:g.75373786T>C			74443539	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Silent	SNP	ENST00000555647.1	37	CCDS9834.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.813|8.813	0.935615|0.935615	0.18206|0.18206	.|.	.|.	ENSG00000198208|ENSG00000198208	ENST00000555910|ENST00000553971	.|.	.|.	.|.	4.58|4.58	-5.99|-5.99	0.02213|0.02213	.|.	.|.	.|.	.|.	.|.	T|T	0.36248|0.36248	0.0960|0.0960	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38607|0.38607	-0.9653|-0.9653	4|4	.|.	.|.	.|.	0.4027|0.4027	2.3699|2.3699	0.04328|0.04328	0.1277:0.1629:0.423:0.2864|0.1277:0.1629:0.423:0.2864	.|.	.|.	.|.	.|.	R|G	22|82	.|.	.|.	K|R	-|-	2|1	0|2	RPS6KL1|RPS6KL1	74443539|74443539	0.358000|0.358000	0.24947|0.24947	0.009000|0.009000	0.14445|0.14445	0.934000|0.934000	0.57294|0.57294	-0.377000|-0.377000	0.07456|0.07456	-0.972000|-0.972000	0.03559|0.03559	0.260000|0.260000	0.18958|0.18958	AAG|AGG		0.617	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			C	75373786	T	C	75373786	2	2	208	1	0	0	0	0	0	0	0	1	13662	1606	56	4		4	RPS6KL1	14	75373786	Silent	SNP	T	TCGA-24-0980-01A-01W-0421-09		75373786	31975754	22	12026											
EFTUD1	79631	genome.wustl.edu	37	15	82551460	82551460	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr15:82551460T>C	ENST00000268206.7	-	3	296	c.128A>G	c.(127-129)aAt>aGt	p.N43S	EFTUD1_ENST00000359445.3_Intron	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	43	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.N43S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATGATTCCATTGCTAGATAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	15											131	127	128					15																	82551460		1826	4081	5907	80338515	SO:0001583	missense	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.128A>G	15.37:g.82551460T>C	ENSP00000268206:p.Asn43Ser		80338515	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490244	0.64074	.	.	ENSG00000140598	ENST00000268206	T	0.75821	-0.97	3.62	3.62	0.41486	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.48286	U	0.000196	T	0.82042	0.4951	L	0.58302	1.8	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.83123	-0.0117	10	0.59425	D	0.04	-0.0361	12.0648	0.53581	0.0:0.0:0.0:1.0	.	43	Q7Z2Z2	ETUD1_HUMAN	S	43	ENSP00000268206:N43S	ENSP00000268206:N43S	N	-	2	0	EFTUD1	80338515	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.074000	0.76791	1.531000	0.49152	0.358000	0.22013	AAT		0.338	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		C	82551460	T	C	82551460	3	2	208	1	0	0	0	0	1	0	0	0	4960	1493	52	4	3306	4	EFTUD1	15	82551460	Missense_Mutation	SNP	T	TCGA-24-0980-01A-01W-0421-09		82551460	19979932	23	12027											
CD19	930	genome.wustl.edu	37	16	28943743	28943743	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr16:28943743G>T	ENST00000324662.3	+	2	209	c.165G>T	c.(163-165)gaG>gaT	p.E55D	CD19_ENST00000538922.1_Missense_Mutation_p.E55D|CD19_ENST00000567541.1_Missense_Mutation_p.E55D			P15391	CD19_HUMAN	CD19 molecule	55	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.E55D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGTCTCGGGAGTCCCCGCTTA	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											36	42	40					16																	28943743		2196	4300	6496	28851244	SO:0001583	missense	930				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.165G>T	16.37:g.28943743G>T	ENSP00000313419:p.Glu55Asp		28851244	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	8.353	0.831433	0.16820	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.38560	1.13;1.13	5.29	-5.14	0.02875	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.015420	0.07882	N	0.969762	T	0.18002	0.0432	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26052	-1.0114	10	0.13470	T	0.59	-1.2667	5.3881	0.16229	0.1455:0.3939:0.3642:0.0963	.	55;55	F5H635;P15391	.;CD19_HUMAN	D	55;40;55	ENSP00000437940:E55D;ENSP00000313419:E55D	ENSP00000313419:E55D	E	+	3	2	CD19	28851244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.468000	0.06656	-1.149000	0.02843	-1.255000	0.01485	GAG		0.587	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			T	28943743	G	T	28943743	3	4	208	1	0	0	0	0	1	0	0	0	2973	1020	36	3	171	3	CD19	16	28943743	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09		28943743	61411010	24	12028											
TP53	7157	genome.wustl.edu	37	17	7578431	7578432	+	Frame_Shift_Ins	INS	-	-	T			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	-	-	-	T	-	-	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr17:7578431_7578432insT	ENST00000269305.4	-	5	687_688	c.498_499insA	c.(496-501)tcacagfs	p.Q167fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.Q167fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q167fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q167fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q167fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q167fs|TP53_ENST00000574684.1_5'UTR	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	167	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q167*(23)|p.0?(8)|p.Q167fs*14(6)|p.Q167fs*13(3)|p.S166S(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(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)	GTCATGTGCTGTGACTGCTTGT	0.639		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"	59	Substitution - Nonsense(25)|Deletion - Frameshift(10)|Whole gene deletion(8)|Insertion - Frameshift(6)|Deletion - In frame(5)|Substitution - Missense(2)|Substitution - coding silent(2)|Complex - compound substitution(1)	upper_aerodigestive_tract(10)|large_intestine(9)|lung(8)|breast(8)|oesophagus(8)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|soft_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	17	GRCh37	CM942118	TP53	M																																				7519157	SO:0001589	frameshift_variant	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.499dupA	17.37:g.7578432_7578432dupT	ENSP00000269305:p.Gln167fs		7519156	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.639	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578432	-	T	7578431	7	5	208	1	0	1	1	0	0	0	0	0	16381	1386	48	0	799	0	TP53	17	7578431	Frame_Shift_Ins	INS	-	TCGA-24-0980-01A-01W-0421-09		7578431	73616779	25	12029											
DNAH17	9489	genome.wustl.edu	37	17	76423180	76423180	+	IGR	SNP	C	C	T	rs201985449	byFrequency	TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr17:76423180C>T	ENST00000262764.6	+	0	2201				DNAH17_ENST00000389840.5_Missense_Mutation_p.V4223M|DNAH17_ENST00000585328.1_Missense_Mutation_p.V4195M|DNAH17_ENST00000586052.1_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)	p.V4195M(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCGTCCAGCACGGCCTTCACC	0.592													c|||	2	0.000399361	0	0	5008	,	,		17448	0		0	False		,,,				2504	0.002				Esophageal Squamous(45;182 1126 10685 43198)											1	Substitution - Missense(1)	ovary(1)	17											31	25	27					17																	76423180		2199	4286	6485	73934775	SO:0001628	intergenic_variant	8632				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76423180C>T			73934775	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	c	9.963	1.223398	0.22457	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.10099	2.91	4.99	4.03	0.46877	.	0.130940	0.34200	N	0.004162	T	0.08935	0.0221	L	0.28776	0.89	0.41139	D	0.985948	B	0.25007	0.116	B	0.28991	0.097	T	0.21793	-1.0235	10	0.33141	T	0.24	.	9.8872	0.41268	0.0:0.8435:0.0:0.1565	.	4195	E7EUM8	.	M	4195;4223	ENSP00000374490:V4223M	ENSP00000300671:V4195M	V	-	1	0	DNAH17	73934775	0.728000	0.28080	0.980000	0.43619	0.444000	0.32077	1.637000	0.37155	1.118000	0.41863	-0.119000	0.15052	GTG		0.592	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		T	76423180	C	T	76423180	1	4	208	0	1	0	0	0	0	0	0	0	4601	536	19	1		1	DNAH17	17	76423180	IGR	SNP	C	TCGA-24-0980-01A-01W-0421-09	68844749	76423180	4772030	26	12030											
RNF213	57674	genome.wustl.edu	37	17	78363858	78363858	+	Missense_Mutation	SNP	C	C	T	rs191077627		TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr17:78363858C>T	ENST00000582970.1	+	67	15475	c.15332C>T	c.(15331-15333)cCg>cTg	p.P5111L	RNF213_ENST00000508628.2_Missense_Mutation_p.P5160L|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.P3184L|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5111					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P3184L(1)|p.P5160Q(1)|p.P3184Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATCTGAGCCCGGAAAATGCT	0.483													C|||	1	0.000199681	0	0	5008	,	,		20599	0.001		0	False		,,,				2504	0															3	Substitution - Missense(3)	lung(2)|ovary(1)	17											99	103	102					17																	78363858		2203	4300	6503	75978453	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15332C>T	17.37:g.78363858C>T	ENSP00000464087:p.Pro5111Leu		75978453	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.48	1.949476	0.34377	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22336	1.96	5.67	5.67	0.87782	.	0.409242	0.24957	N	0.034250	T	0.23926	0.0579	M	0.70595	2.14	0.32342	N	0.559596	P;P	0.51351	0.944;0.936	B;B	0.36504	0.191;0.226	T	0.47959	-0.9076	10	0.56958	D	0.05	.	14.5968	0.68413	0.1459:0.8541:0.0:0.0	.	5111;3184	D6RI12;Q63HN8	.;RN213_HUMAN	L	5111;5160;3184;461	ENSP00000338218:P3184L	ENSP00000338218:P3184L	P	+	2	0	RNF213	75978453	0.001000	0.12720	0.916000	0.36221	0.061000	0.15899	1.417000	0.34770	2.668000	0.90789	0.655000	0.94253	CCG		0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78363858	C	T	78363858	3	4	208	1	0	0	0	0	1	0	0	0	13480	652	23	1	15913	1	RNF213	17	78363858	Missense_Mutation	SNP	C	TCGA-24-0980-01A-01W-0421-09	1940678	78363858	2831352	27	12031											
ZNF426	79088	genome.wustl.edu	37	19	9641741	9641741	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr19:9641741A>G	ENST00000535489.1	-	5	664	c.328T>C	c.(328-330)Tgg>Cgg	p.W110R	ZNF426_ENST00000593003.1_Missense_Mutation_p.W72R|ZNF426_ENST00000253115.2_Missense_Mutation_p.W110R|ZNF426_ENST00000589289.1_Intron			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	110	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W110R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						CGCATTTCCCATCCTGAAATA	0.443																																																1	Substitution - Missense(1)	ovary(1)	19											96	90	92					19																	9641741		2203	4300	6503	9502741	SO:0001583	missense	79088			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.328T>C	19.37:g.9641741A>G	ENSP00000439017:p.Trp110Arg		9502741	B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	A	9.959	1.222209	0.22457	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.07021	3.23;3.23	1.53	1.53	0.23141	Krueppel-associated box (1);	.	.	.	.	T	0.07683	0.0193	N	0.08118	0	0.18873	N	0.999986	D;D	0.55605	0.972;0.972	P;P	0.59643	0.861;0.861	T	0.37407	-0.9707	9	0.21540	T	0.41	.	5.172	0.15114	1.0:0.0:0.0:0.0	.	97;110	Q59EH4;Q9BUY5	.;ZN426_HUMAN	R	97;110;110	ENSP00000253115:W110R;ENSP00000439017:W110R	ENSP00000253115:W110R	W	-	1	0	ZNF426	9502741	0.019000	0.18553	0.024000	0.17045	0.459000	0.32528	2.240000	0.43088	0.945000	0.37605	0.377000	0.23210	TGG		0.443	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		G	9641741	A	G	9641741	3	3	208	1	0	0	0	0	1	0	0	0	17900	217	8	4	1344	4	ZNF426	19	9641741	Missense_Mutation	SNP	A	TCGA-24-0980-01A-01W-0421-09		9641741	49487242	28	12032											
LRFN1	57622	genome.wustl.edu	37	19	39804613	39804613	+	Missense_Mutation	SNP	T	T	C			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr19:39804613T>C	ENST00000248668.4	-	1	1363	c.1364A>G	c.(1363-1365)cAg>cGg	p.Q455R	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	455	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.Q407R(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTACTGAACCTGGTACATGCG	0.652																																																1	Substitution - Missense(1)	ovary(1)	19											63	70	68					19																	39804613		2073	4234	6307	44496453	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1364A>G	19.37:g.39804613T>C	ENSP00000248668:p.Gln455Arg		44496453	Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.832330	0.71258	.	.	ENSG00000128011	ENST00000248668	T	0.55588	0.51	4.53	4.53	0.55603	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000705	T	0.68924	0.3054	M	0.83223	2.63	0.58432	D	0.999998	P	0.42649	0.786	P	0.55222	0.771	T	0.73500	-0.3963	10	0.66056	D	0.02	.	11.8469	0.52389	0.0:0.0:0.0:1.0	.	455	Q9P244	LRFN1_HUMAN	R	455	ENSP00000248668:Q455R	ENSP00000248668:Q455R	Q	-	2	0	LRFN1	44496453	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.826000	0.86716	1.905000	0.55150	0.533000	0.62120	CAG		0.652	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		C	39804613	T	C	39804613	3	2	208	1	0	0	0	0	1	0	0	0	8937	1580	55	4	959	4	LRFN1	19	39804613	Missense_Mutation	SNP	T	TCGA-24-0980-01A-01W-0421-09	30162872	39804613	19324370	29	12033											
AURKC	6795	genome.wustl.edu	37	19	57744900	57744900	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr19:57744900G>C	ENST00000302804.7	+	5	694	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	AURKC_ENST00000599062.1_Missense_Mutation_p.E167Q|AURKC_ENST00000598785.1_Missense_Mutation_p.E136Q|AURKC_ENST00000415300.2_Missense_Mutation_p.E151Q|AURKC_ENST00000448930.1_Missense_Mutation_p.E136Q	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E136Q(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TATTAAGCCAGAGAACCTGCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	19											120	113	115					19																	57744900		2203	4300	6503	62436712	SO:0001583	missense	6795				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.508G>C	19.37:g.57744900G>C	ENSP00000302898:p.Glu170Gln		62436712	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160809	0.78226	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.10099	2.91;2.91;2.91	3.95	3.95	0.45737	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	0.30386	0.0763	M	0.68728	2.09	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.985;0.999	T	0.02829	-1.1105	10	0.87932	D	0	-28.9392	14.3221	0.66493	0.0:0.0:1.0:0.0	.	167;170;151	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	Q	151;136;170	ENSP00000407162:E151Q;ENSP00000406798:E136Q;ENSP00000302898:E170Q	ENSP00000302898:E170Q	E	+	1	0	AURKC	62436712	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.110000	0.89562	2.501000	0.84356	0.561000	0.74099	GAG		0.527	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		C	57744900	G	C	57744900	3	2	208	1	0	0	0	0	1	0	0	0	1224	943	33	3	531	3	AURKC	19	57744900	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09	17940287	57744900	1384083	30	12034											
CHMP4B	128866	genome.wustl.edu	37	20	32436293	32436293	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr20:32436293C>A	ENST00000217402.2	+	2	376	c.211C>A	c.(211-213)Cgt>Agt	p.R71S		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	71					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.R71S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						GGCACTGAAGCGTAAGAAGAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	20											65	54	58					20																	32436293		2203	4300	6503	31899954	SO:0001583	missense	128866			AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"Charged multivesicular body proteins"	16171	protein-coding gene	gene with protein product		610897	"chromosome 20 open reading frame 178", "chromatin modifying protein 4B"	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.211C>A	20.37:g.32436293C>A	ENSP00000217402:p.Arg71Ser		31899954	E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114329	0.94339	.	.	ENSG00000101421	ENST00000217402	T	0.73047	-0.71	5.78	5.78	0.91487	.	0.047704	0.85682	D	0.000000	D	0.86091	0.5850	M	0.90595	3.13	0.80722	D	1	D	0.56746	0.977	P	0.58331	0.837	D	0.88313	0.2957	10	0.87932	D	0	-6.6585	19.996	0.97383	0.0:1.0:0.0:0.0	.	71	Q9H444	CHM4B_HUMAN	S	71	ENSP00000217402:R71S	ENSP00000217402:R71S	R	+	1	0	CHMP4B	31899954	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.047000	0.57383	2.731000	0.93534	0.591000	0.81541	CGT		0.562	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			A	32436293	C	A	32436293	3	1	208	1	0	0	0	0	1	0	0	0	3357	768	27	3	217	3	CHMP4B	20	32436293	Missense_Mutation	SNP	C	TCGA-24-0980-01A-01W-0421-09		32436293	30589227	31	12035											
CCT8L2	150160	genome.wustl.edu	37	22	17072821	17072821	+	Missense_Mutation	SNP	G	G	A	rs376606608		TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chr22:17072821G>A	ENST00000359963.3	-	1	879	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.A207G(1)|p.A207V(1)|p.A207E(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGGCAGCGCGCACACCCC	0.617																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	22						G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	64	63	63		620	1.8	0	22		63	0,8600		0,0,4300	no	missense	CCT8L2	NM_014406.4	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	207/558	17072821	1,13005	2203	4300	6503	15452821	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.620C>T	22.37:g.17072821G>A	ENSP00000353048:p.Ala207Val		15452821	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	9.225	1.034437	0.19590	2.27E-4	0.0	ENSG00000198445	ENST00000359963	T	0.78816	-1.21	1.78	1.78	0.24846	.	1.965940	0.03364	N	0.197938	T	0.61949	0.2388	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.18561	0.022	T	0.55328	-0.8158	10	0.66056	D	0.02	-1.6843	7.0003	0.24805	0.0:0.0:1.0:0.0	.	207	Q96SF2	TCPQM_HUMAN	V	207	ENSP00000353048:A207V	ENSP00000353048:A207V	A	-	2	0	CCT8L2	15452821	0.385000	0.25172	0.019000	0.16419	0.030000	0.12068	0.334000	0.19787	0.995000	0.38917	0.379000	0.24179	GCG		0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			A	17072821	G	A	17072821	3	1	208	1	0	0	0	0	1	0	0	0	2961	1087	38	1	1057	1	CCT8L2	22	17072821	Missense_Mutation	SNP	G	TCGA-24-0980-01A-01W-0421-09		17072821	34231745	32	12036											
PRRG1	5638	genome.wustl.edu	37	X	37285167	37285167	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chrX:37285167A>G	ENST00000542554.1	+	4	357	c.85A>G	c.(85-87)Aga>Gga	p.R29G	PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000543642.1_Missense_Mutation_p.R29G|PRRG1_ENST00000463135.1_Missense_Mutation_p.R29G|PRRG1_ENST00000378628.4_Missense_Mutation_p.R29G|PRRG1_ENST00000449135.2_Missense_Mutation_p.R29G|TM4SF2_ENST00000465127.1_Missense_Mutation_p.R29G	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	29	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R29G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAAGAAATAAGACAGGGCAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	X											56	54	54					X																	37285167		2202	4299	6501	37170088	SO:0001583	missense	5638			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.85A>G	X.37:g.37285167A>G	ENSP00000444278:p.Arg29Gly		37170088	B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851868	0.51270	.	.	ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000250349	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135;ENST00000463135;ENST00000465127	D;D;D;D;D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51;-5.51;-5.51;-5.51;-5.51	5.18	5.18	0.71444	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.317193	0.36409	N	0.002611	D	0.98261	0.9424	M	0.72118	2.19	0.28709	N	0.903655	B	0.32862	0.387	B	0.40256	0.324	D	0.97641	1.0148	10	0.72032	D	0.01	-13.8288	11.9146	0.52757	1.0:0.0:0.0:0.0	.	29	O14668	TMG1_HUMAN	G	29	ENSP00000367894:R29G;ENSP00000418384:R29G;ENSP00000444278:R29G;ENSP00000443271:R29G;ENSP00000420353:R29G;ENSP00000390332:R29G;ENSP00000419999:R29G;ENSP00000417050:R29G	ENSP00000367894:R29G	R	+	1	2	RP5-972B16.2;PRRG1	37170088	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.678000	0.61641	1.716000	0.51395	0.486000	0.48141	AGA		0.333	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		G	37285167	A	G	37285167	3	3	208	1	0	0	0	0	1	0	0	0	12608	64	3	4	91	4	PRRG1	23	37285167	Missense_Mutation	SNP	A	TCGA-24-0980-01A-01W-0421-09		37285167	117985393	33	12037											
PCDH19	57526	genome.wustl.edu	37	X	99551803	99551803	+	Silent	SNP	G	G	A			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chrX:99551803G>A	ENST00000373034.4	-	6	4594	c.2919C>T	c.(2917-2919)ccC>ccT	p.P973P	PCDH19_ENST00000420881.2_Silent_p.P925P|PCDH19_ENST00000255531.7_Silent_p.P926P|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	973					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P973P(1)|p.P426P(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGGGGTTCCGGGGCATCCAGC	0.493																																																2	Substitution - coding silent(2)	ovary(2)	X											62	60	61					X																	99551803		2062	4192	6254	99438459	SO:0001819	synonymous_variant	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2919C>T	X.37:g.99551803G>A			99438459	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	CCDS55462.1																																																																																				0.493	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		A	99551803	G	A	99551803	2	1	208	1	0	0	0	0	0	0	0	1	11514	1219	43	2		2	PCDH19	23	99551803	Silent	SNP	G	TCGA-24-0980-01A-01W-0421-09	62266636	99551803	55718757	34	12038											
COL4A6	1288	genome.wustl.edu	37	X	107462959	107462959	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chrX:107462959A>T	ENST00000372216.4	-	5	396	c.296T>A	c.(295-297)gTt>gAt	p.V99D	COL4A6_ENST00000334504.7_Missense_Mutation_p.V98D|COL4A6_ENST00000545689.1_Missense_Mutation_p.V98D|COL4A6_ENST00000538570.1_Missense_Mutation_p.V98D|COL4A6_ENST00000394872.2_Intron	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	99	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.V98D(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AAAGCCAGGAACTCCCATGGG	0.428									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - Missense(1)	ovary(1)	X											180	157	165					X																	107462959		2203	4300	6503	107349615	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.296T>A	X.37:g.107462959A>T	ENSP00000361290:p.Val99Asp		107349615	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699454	0.30142	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	4.93	3.76	0.43208	.	.	.	.	.	D	0.93044	0.7786	L	0.41415	1.275	0.52099	D	0.999942	D;D;D;D	0.61697	0.971;0.99;0.977;0.971	P;P;P;P	0.62298	0.839;0.839;0.9;0.839	D	0.91378	0.5125	9	0.54805	T	0.06	.	7.8336	0.29358	0.8989:0.0:0.1011:0.0	.	98;98;99;98	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	D	99;98;98;98;98	ENSP00000361290:V99D;ENSP00000334733:V98D;ENSP00000443707:V98D;ENSP00000445236:V98D	ENSP00000334733:V98D	V	-	2	0	COL4A6	107349615	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.546000	0.60705	0.772000	0.33382	0.417000	0.27973	GTT		0.428	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			T	107462959	A	T	107462959	3	4	208	1	0	0	0	0	1	0	0	0	3695	43	2	5	4943	5	COL4A6	23	107462959	Missense_Mutation	SNP	A	TCGA-24-0980-01A-01W-0421-09	7911156	107462959	47807601	35	12039											
COL4A5	1287	genome.wustl.edu	37	X	107930810	107930810	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0980-01A-01W-0421-09	TCGA-24-0980-10A-01W-0421-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	87d32a92-a8d2-4656-a100-798328338486	f1db2b72-7ba5-42d7-804b-6119bda3e50c	g.chrX:107930810C>T	ENST00000361603.2	+	47	4640	c.4396C>T	c.(4396-4398)Cgc>Tgc	p.R1466C	COL4A5_ENST00000328300.6_Missense_Mutation_p.R1472C	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1466	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.R1466C(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTTATTACACGCCACAGCCA	0.522									Alport syndrome with Diffuse Leiomyomatosis																																							2	Substitution - Missense(2)	ovary(1)|endometrium(1)	X											141	126	131					X																	107930810		2203	4300	6503	107817466	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4396C>T	X.37:g.107930810C>T	ENSP00000354505:p.Arg1466Cys		107817466	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596920	0.87055	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94650	-3.48;-3.48	5.58	5.58	0.84498	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.99441	1.0938	10	0.87932	D	0	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	1469;1466	E7EVY4;P29400	.;CO4A5_HUMAN	C	1472;1466;1472	ENSP00000331902:R1472C;ENSP00000354505:R1466C	ENSP00000331902:R1472C	R	+	1	0	COL4A5	107817466	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.805000	0.62561	2.343000	0.79666	0.600000	0.82982	CGC		0.522	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			T	107930810	C	T	107930810	3	4	208	1	0	0	0	0	1	0	0	0	3694	536	19	1	4593	1	COL4A5	23	107930810	Missense_Mutation	SNP	C	TCGA-24-0980-01A-01W-0421-09	467851	107930810	47339750	36	12040											
PADI2	11240	genome.wustl.edu	37	1	17401419	17401419	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr1:17401419G>A	ENST00000375486.4	-	13	1544	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.T378I	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	494					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.T494I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GCAGGCCGAGGTGCTGGCCAT	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											63	53	57					1																	17401419		2203	4300	6503	17274006	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1481C>T	1.37:g.17401419G>A	ENSP00000364635:p.Thr494Ile		17274006	Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	CCDS177.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396407	0.83011	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.22134	1.97;1.97	4.65	4.65	0.58169	Protein-arginine deiminase, C-terminal (1);	0.051785	0.85682	D	0.000000	T	0.26484	0.0647	L	0.38175	1.15	0.42050	D	0.99111	B;P	0.43938	0.392;0.822	B;P	0.47673	0.18;0.554	T	0.03315	-1.1049	10	0.87932	D	0	-33.5973	16.6194	0.84926	0.0:0.0:1.0:0.0	.	378;494	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	I	494;378	ENSP00000364635:T494I;ENSP00000405894:T378I	ENSP00000364635:T494I	T	-	2	0	PADI2	17274006	1.000000	0.71417	0.992000	0.48379	0.918000	0.54935	7.827000	0.86722	2.570000	0.86706	0.561000	0.74099	ACC		0.592	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			A	17401419	G	A	17401419	3	1	209	1	0	0	0	0	1	0	0	0	11378	1261	44	2	532	2	PADI2	1	17401419	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09		17401419	231849202	1	12041											
COL16A1	1307	genome.wustl.edu	37	1	32163510	32163510	+	Silent	SNP	G	G	C			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr1:32163510G>C	ENST00000373672.3	-	6	1170	c.654C>G	c.(652-654)gtC>gtG	p.V218V	COL16A1_ENST00000271069.6_Silent_p.V218V|COL16A1_ENST00000373668.3_Silent_p.V218V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	218	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.V218V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CACTCACCGAGACAGGCTTGC	0.597																																					Colon(143;498 1786 21362 25193 36625)											1	Substitution - coding silent(1)	ovary(1)	1											53	56	55					1																	32163510		1973	4116	6089	31936097	SO:0001819	synonymous_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.654C>G	1.37:g.32163510G>C			31936097	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																				0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		C	32163510	G	C	32163510	2	2	209	1	0	0	0	0	0	0	0	1	3673	929	33	3		3	COL16A1	1	32163510	Silent	SNP	G	TCGA-24-0982-01A-01W-0488-09	14762091	32163510	217087111	2	12042											
LRIG2	9860	genome.wustl.edu	37	1	113657287	113657287	+	Silent	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr1:113657287G>A	ENST00000361127.5	+	15	2517	c.2319G>A	c.(2317-2319)ggG>ggA	p.G773G	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	773	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G773G(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ACACCCTTGGGACAGAACGTG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	1											185	162	170					1																	113657287		2203	4300	6503	113458810	SO:0001819	synonymous_variant	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2319G>A	1.37:g.113657287G>A			113458810	Q9NSN2	Silent	SNP	ENST00000361127.5	37	CCDS30808.1																																																																																				0.463	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		A	113657287	G	A	113657287	2	1	209	1	0	0	0	0	0	0	0	1	8945	1161	41	2		2	LRIG2	1	113657287	Silent	SNP	G	TCGA-24-0982-01A-01W-0488-09	81493777	113657287	135593334	3	12043											
RGS21	431704	genome.wustl.edu	37	1	192316515	192316515	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr1:192316515C>A	ENST00000417209.2	+	3	258	c.84C>A	c.(82-84)aaC>aaA	p.N28K		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	28	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.N28K(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTTAGCCAACCAAGGTAAGA	0.303																																																1	Substitution - Missense(1)	ovary(1)	1											121	114	116					1																	192316515		1820	4079	5899	190583138	SO:0001583	missense	431704			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"Regulators of G-protein signaling"	26839	protein-coding gene	gene with protein product		612407	"regulator of G-protein signalling 21"			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.84C>A	1.37:g.192316515C>A	ENSP00000428343:p.Asn28Lys		190583138		Missense_Mutation	SNP	ENST00000417209.2	37	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742325	0.30865	.	.	ENSG00000253148	ENST00000417209	T	0.32753	1.44	6.08	-4.77	0.03219	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.36234	U	0.002715	T	0.20861	0.0502	L	0.48877	1.53	0.27291	N	0.957833	P	0.52316	0.952	B	0.37267	0.245	T	0.16897	-1.0387	10	0.45353	T	0.12	.	15.2697	0.73689	0.0:0.2703:0.0:0.7297	.	28	Q2M5E4	RGS21_HUMAN	K	28	ENSP00000428343:N28K	ENSP00000428343:N28K	N	+	3	2	RGS21	190583138	0.259000	0.24043	0.529000	0.27951	0.432000	0.31715	-0.597000	0.05713	-1.438000	0.01965	-0.218000	0.12543	AAC		0.303	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			A	192316515	C	A	192316515	3	1	209	1	0	0	0	0	1	0	0	0	13307	506	18	3	90	3	RGS21	1	192316515	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09	78659228	192316515	56934106	4	12044											
PDE11A	50940	genome.wustl.edu	37	2	178936480	178936480	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr2:178936480C>T	ENST00000286063.6	-	1	1002	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	229	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.V229I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ATAAGGCAGACAAAGATGAGA	0.473									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							1	Substitution - Missense(1)	ovary(1)	2											98	84	89					2																	178936480		2203	4300	6503	178644726	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.685G>A	2.37:g.178936480C>T	ENSP00000286063:p.Val229Ile		178644726	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745490	0.89663	.	.	ENSG00000128655	ENST00000286063	T	0.69306	-0.39	5.52	5.52	0.82312	GAF (2);	0.170306	0.53938	D	0.000060	T	0.75708	0.3886	L	0.49571	1.57	0.80722	D	1	D	0.59357	0.985	P	0.60345	0.873	T	0.73216	-0.4053	10	0.36615	T	0.2	.	18.4131	0.90559	0.0:1.0:0.0:0.0	.	229	Q9HCR9	PDE11_HUMAN	I	229	ENSP00000286063:V229I	ENSP00000286063:V229I	V	-	1	0	PDE11A	178644726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.730000	0.68546	2.590000	0.87494	0.655000	0.94253	GTC		0.473	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			T	178936480	C	T	178936480	3	4	209	1	0	0	0	0	1	0	0	0	11631	478	17	2	2196	2	PDE11A	2	178936480	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09		178936480	64262893	5	12045											
SPAG16	79582	genome.wustl.edu	37	2	214228856	214228856	+	Silent	SNP	T	T	C			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr2:214228856T>C	ENST00000331683.5	+	8	914	c.819T>C	c.(817-819)ggT>ggC	p.G273G	SPAG16_ENST00000272898.7_Silent_p.G273G|SPAG16_ENST00000447990.1_Silent_p.G273G|SPAG16_ENST00000413312.1_Silent_p.G242G|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Silent_p.G179G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	273					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.G273G(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTTACCATGGTCCTCAAATTA	0.284																																																1	Substitution - coding silent(1)	ovary(1)	2											30	30	30					2																	214228856		2200	4274	6474	213937101	SO:0001819	synonymous_variant	79582			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.819T>C	2.37:g.214228856T>C			213937101	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	CCDS2396.1																																																																																				0.284	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		C	214228856	T	C	214228856	2	2	209	1	0	0	0	0	0	0	0	1	14981	1654	58	4		4	SPAG16	2	214228856	Silent	SNP	T	TCGA-24-0982-01A-01W-0488-09	35292376	214228856	28970517	6	12046											
SIDT1	54847	genome.wustl.edu	37	3	113286443	113286443	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr3:113286443C>T	ENST00000264852.4	+	3	1127	c.401C>T	c.(400-402)gCa>gTa	p.A134V	SIDT1_ENST00000393830.3_Missense_Mutation_p.A134V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	134					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.A134V(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCCTCAGAAGCAACCAATGAG	0.468																																																1	Substitution - Missense(1)	ovary(1)	3											148	137	141					3																	113286443		2203	4300	6503	114769133	SO:0001583	missense	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.401C>T	3.37:g.113286443C>T	ENSP00000264852:p.Ala134Val		114769133	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508447	0.27036	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.14266	2.52;2.52	6.17	5.3	0.74995	.	0.209857	0.33631	N	0.004716	T	0.06280	0.0162	N	0.02539	-0.55	0.34313	D	0.685651	B	0.32526	0.374	B	0.31390	0.129	T	0.36261	-0.9755	10	0.19147	T	0.46	-4.5525	15.6272	0.76870	0.0:0.9346:0.0:0.0653	.	134	Q9NXL6	SIDT1_HUMAN	V	134	ENSP00000264852:A134V;ENSP00000377416:A134V	ENSP00000264852:A134V	A	+	2	0	SIDT1	114769133	0.994000	0.37717	1.000000	0.80357	0.365000	0.29674	3.117000	0.50407	1.632000	0.50472	-0.140000	0.14226	GCA		0.468	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		T	113286443	C	T	113286443	3	4	209	1	0	0	0	0	1	0	0	0	14305	710	25	2	411	2	SIDT1	3	113286443	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09		113286443	84735987	7	12047											
STXBP5L	9515	genome.wustl.edu	37	3	120973862	120973862	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr3:120973862A>G	ENST00000273666.6	+	16	1833	c.1562A>G	c.(1561-1563)tAc>tGc	p.Y521C	STXBP5L_ENST00000497029.1_Missense_Mutation_p.Y521C|STXBP5L_ENST00000471454.1_Missense_Mutation_p.Y521C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Y521C|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Y521C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	521					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y521C(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGATGATTTACTGGTGTCCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	3											82	77	79					3																	120973862		1854	4116	5970	122456552	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1562A>G	3.37:g.120973862A>G	ENSP00000273666:p.Tyr521Cys		122456552	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.573049	0.45902	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.45	2.89	0.33648	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.111689	0.64402	D	0.000007	T	0.32010	0.0815	L	0.34521	1.04	0.39632	D	0.970196	D;D	0.65815	0.995;0.995	P;P	0.52514	0.701;0.701	T	0.07009	-1.0795	10	0.38643	T	0.18	0.0043	12.1147	0.53858	0.5874:0.4126:0.0:0.0	.	521;521	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	C	521	ENSP00000273666:Y521C;ENSP00000420019:Y521C;ENSP00000419627:Y521C;ENSP00000420287:Y521C;ENSP00000420666:Y521C;ENSP00000420167:Y521C	ENSP00000273666:Y521C	Y	+	2	0	STXBP5L	122456552	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.565000	0.36386	0.885000	0.36088	-0.313000	0.08912	TAC		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			G	120973862	A	G	120973862	3	3	209	1	0	0	0	0	1	0	0	0	15359	391	14	4	1620	4	STXBP5L	3	120973862	Missense_Mutation	SNP	A	TCGA-24-0982-01A-01W-0488-09	7687419	120973862	77048568	8	12048											
BOD1L	259282	genome.wustl.edu	37	4	13612616	13612616	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr4:13612616G>A	ENST00000040738.5	-	6	1568	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	478	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S478L(1)									ATAGTATTTTGAGTAAAGATA	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											229	206	214					4																	13612616		2203	4300	6503	13221714	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1433C>T	4.37:g.13612616G>A	ENSP00000040738:p.Ser478Leu		13221714	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	30	5.056004	0.93793	.	.	ENSG00000038219	ENST00000040738	T	0.20069	2.1	5.58	5.58	0.84498	.	0.000000	0.42964	D	0.000633	T	0.48241	0.1489	M	0.68952	2.095	0.53005	D	0.999966	D	0.89917	1.0	D	0.85130	0.997	T	0.37197	-0.9716	10	0.59425	D	0.04	-4.0371	19.9215	0.97087	0.0:0.0:1.0:0.0	.	478	Q8NFC6	BOD1L_HUMAN	L	478	ENSP00000040738:S478L	ENSP00000040738:S478L	S	-	2	0	BOD1L	13221714	1.000000	0.71417	0.975000	0.42487	0.809000	0.45718	9.379000	0.97198	2.787000	0.95880	0.591000	0.81541	TCA		0.348	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		A	13612616	G	A	13612616	3	1	209	1	0	0	0	0	1	0	0	0	1483	1294	45	2	7806	2	BOD1L	4	13612616	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09		13612616	177541660	9	12049											
SLIT2	9353	genome.wustl.edu	37	4	20493434	20493434	+	Missense_Mutation	SNP	G	G	A	rs148733702	byFrequency	TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr4:20493434G>A	ENST00000504154.1	+	9	1078	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	SLIT2_ENST00000503823.1_Missense_Mutation_p.A276T|SLIT2_ENST00000273739.5_Missense_Mutation_p.A280T|SLIT2_ENST00000503837.1_Missense_Mutation_p.A280T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	276	LRRNT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.A276T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGCCCTGCCGCCTGTACCTG	0.418																																																1	Substitution - Missense(1)	ovary(1)	4						G	THR/ALA	0,4406		0,0,2203	143	141	142		826	4.8	0.8	4	dbSNP_134	142	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SLIT2	NM_004787.1	58	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	276/1530	20493434	5,13001	2203	4300	6503	20102532	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.826G>A	4.37:g.20493434G>A	ENSP00000422591:p.Ala276Thr		20102532	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409728	0.42715	0.0	5.81E-4	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0	5.63	4.79	0.61399	Leucine-rich repeat-containing N-terminal (2);	0.194104	0.56097	N	0.000036	D	0.92805	0.7712	L	0.47078	1.49	0.49130	D	0.999753	B;P	0.40638	0.095;0.725	B;B	0.33254	0.009;0.16	D	0.91435	0.5169	10	0.21540	T	0.41	.	15.2381	0.73447	0.068:0.0:0.932:0.0	.	276;276	O94813-3;O94813	.;SLIT2_HUMAN	T	276;276;280;280;280	ENSP00000427548:A276T;ENSP00000422591:A276T;ENSP00000273739:A280T;ENSP00000422261:A280T	ENSP00000273739:A280T	A	+	1	0	SLIT2	20102532	0.742000	0.28228	0.820000	0.32676	0.987000	0.75469	2.164000	0.42387	1.514000	0.48869	0.655000	0.94253	GCC		0.418	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20493434	G	A	20493434	3	1	209	1	0	0	0	0	1	0	0	0	14743	1087	38	1	860	1	SLIT2	4	20493434	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09	6880818	20493434	170660842	10	12050											
FGB	2244	genome.wustl.edu	37	4	155491741	155491741	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr4:155491741G>A	ENST00000302068.4	+	8	1478	c.1415G>A	c.(1414-1416)gGg>gAg	p.G472E	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.G253E	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	472	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.G472E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AATTGGAAGGGGTCATGGTAC	0.473																																					NSCLC(106;1133 1613 21870 46110 52656)											1	Substitution - Missense(1)	ovary(1)	4											201	179	186					4																	155491741		2203	4300	6503	155711191	SO:0001583	missense	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1415G>A	4.37:g.155491741G>A	ENSP00000306099:p.Gly472Glu		155711191	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557456	0.86231	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.82526	-1.62;-1.62	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.046082	0.85682	D	0.000000	D	0.91546	0.7330	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.92252	0.5809	10	0.72032	D	0.01	.	12.9905	0.58616	0.0739:0.0:0.9261:0.0	.	455;472	B4E1D3;P02675	.;FIBB_HUMAN	E	472;455;253	ENSP00000306099:G472E;ENSP00000426757:G253E	ENSP00000306099:G472E	G	+	2	0	FGB	155711191	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.968000	0.87980	2.749000	0.94314	0.655000	0.94253	GGG		0.473	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		A	155491741	G	A	155491741	3	1	209	1	0	0	0	0	1	0	0	0	5831	1232	43	2	1445	2	FGB	4	155491741	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09	134998307	155491741	35662535	11	12051											
ADAMTS12	81792	genome.wustl.edu	37	5	33615972	33615972	+	Silent	SNP	C	C	G			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr5:33615972C>G	ENST00000504830.1	-	15	2684	c.2349G>C	c.(2347-2349)ctG>ctC	p.L783L	ADAMTS12_ENST00000352040.3_Silent_p.L698L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	783	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L783L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGTGGCCATCAGCTTTTCCA	0.458										HNSCC(64;0.19)																																						1	Substitution - coding silent(1)	ovary(1)	5											148	129	135					5																	33615972		2203	4300	6503	33651729	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2349G>C	5.37:g.33615972C>G			33651729	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.458	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		G	33615972	C	G	33615972	2	3	209	1	0	0	0	0	0	0	0	1	257	813	29	3		3	ADAMTS12	5	33615972	Silent	SNP	C	TCGA-24-0982-01A-01W-0488-09		33615972	147299288	12	12052											
FBN2	2201	genome.wustl.edu	37	5	127681245	127681245	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr5:127681245C>A	ENST00000508053.1	-	30	3995	c.3021G>T	c.(3019-3021)tgG>tgT	p.W1007C	FBN2_ENST00000508989.1_Missense_Mutation_p.W974C|FBN2_ENST00000262464.4_Missense_Mutation_p.W1007C			P35556	FBN2_HUMAN	fibrillin 2	1007	TB 5.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.W1007C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTTCATCCCACTTCAAGT	0.527																																																1	Substitution - Missense(1)	ovary(1)	5											95	89	91					5																	127681245		2203	4300	6503	127709144	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3021G>T	5.37:g.127681245C>A	ENSP00000424571:p.Trp1007Cys		127709144	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306145	0.60305	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.90676	-2.71;-2.71;-2.71	4.08	4.08	0.47627	Matrix fibril-associated (2);TGF-beta binding (1);	0.195833	0.35585	N	0.003118	D	0.94551	0.8245	M	0.78223	2.4	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.70487	0.969;0.808	D	0.92845	0.6292	10	0.25106	T	0.35	.	17.5943	0.88006	0.0:1.0:0.0:0.0	.	974;1007	D6RJI3;P35556	.;FBN2_HUMAN	C	1007;1007;974	ENSP00000262464:W1007C;ENSP00000424571:W1007C;ENSP00000425596:W974C	ENSP00000262464:W1007C	W	-	3	0	FBN2	127709144	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.818000	0.39012	2.567000	0.86603	0.563000	0.77884	TGG		0.527	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127681245	C	A	127681245	3	1	209	1	0	0	0	0	1	0	0	0	5703	624	22	3	5885	3	FBN2	5	127681245	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09	94065273	127681245	53234015	13	12053											
PPP2R2B	5521	genome.wustl.edu	37	5	145969658	145969658	+	Missense_Mutation	SNP	A	A	C			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr5:145969658A>C	ENST00000394413.3	-	9	1754	c.1184T>G	c.(1183-1185)gTg>gGg	p.V395G	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V453G|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V461G|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V395G|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V398G|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V395G|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V395G|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V384G|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V384G|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V401G|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	395					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.V398G(2)|p.V453G(1)|p.V395G(1)|p.V384G(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCCCCCACACACACTTT	0.488																																																5	Substitution - Missense(5)	endometrium(4)|ovary(1)	5											136	142	140					5																	145969658		2203	4300	6503	145949851	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1184T>G	5.37:g.145969658A>C	ENSP00000377935:p.Val395Gly		145949851	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.379009	0.42207	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;1.51;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;1.51	5.82	5.82	0.92795	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.10450	0.005;0.003;0.003;0.005;0.001;0.002	T	0.58792	-0.7574	10	0.19147	T	0.46	-8.1571	16.1814	0.81903	1.0:0.0:0.0:0.0	.	453;401;384;461;398;395	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	G	395;384;461;395;395;395;384;398;401;453	ENSP00000377935:V395G;ENSP00000431320:V384G;ENSP00000377936:V461G;ENSP00000377933:V395G;ENSP00000349283:V395G;ENSP00000398779:V395G;ENSP00000377932:V384G;ENSP00000336591:V398G;ENSP00000421396:V401G;ENSP00000377931:V453G	ENSP00000336591:V398G	V	-	2	0	AC011357.1	145949851	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	3.460000	0.53028	2.234000	0.73211	0.533000	0.62120	GTG		0.488	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		C	145969658	A	C	145969658	3	2	209	1	0	0	0	0	1	0	0	0	12388	159	6	5	151	5	PPP2R2B	5	145969658	Missense_Mutation	SNP	A	TCGA-24-0982-01A-01W-0488-09	18288413	145969658	34945602	14	12054											
BLVRA	644	genome.wustl.edu	37	7	43846616	43846616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr7:43846616C>T	ENST00000402924.1	+	9	836	c.673C>T	c.(673-675)Cga>Tga	p.R225*	BLVRA_ENST00000265523.4_Nonsense_Mutation_p.R225*	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	225					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)	p.R225*(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TGGTCTAAAACGAAACAGATA	0.368																																																1	Substitution - Nonsense(1)	ovary(1)	7											67	67	67					7																	43846616		2203	4300	6503	43813141	SO:0001587	stop_gained	644			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.673C>T	7.37:g.43846616C>T	ENSP00000385757:p.Arg225*		43813141	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Nonsense_Mutation	SNP	ENST00000402924.1	37	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651395	0.67472	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	.	.	.	4.25	2.28	0.28536	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	10.5007	0.44804	0.352:0.648:0.0:0.0	.	.	.	.	X	225	.	ENSP00000265523:R225X	R	+	1	2	BLVRA	43813141	1.000000	0.71417	0.107000	0.21349	0.935000	0.57460	3.026000	0.49689	0.287000	0.22375	0.462000	0.41574	CGA		0.368	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		T	43846616	C	T	43846616	4	4	209	1	0	0	0	0	0	1	0	0	1451	528	19	1	699	1	BLVRA	7	43846616	Nonsense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09		43846616	115292047	15	12055											
AUTS2	26053	genome.wustl.edu	37	7	70229813	70229813	+	Silent	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr7:70229813G>A	ENST00000342771.4	+	8	1611	c.1290G>A	c.(1288-1290)ccG>ccA	p.P430P	AUTS2_ENST00000406775.2_Silent_p.P430P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	430								p.P430P(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ctgcctccccgttccccctct	0.607																																																1	Substitution - coding silent(1)	ovary(1)	7											54	49	51					7																	70229813		2189	4253	6442	69867749	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1290G>A	7.37:g.70229813G>A			69867749	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1																																																																																				0.607	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			A	70229813	G	A	70229813	2	1	209	1	0	0	0	0	0	0	0	1	1225	1132	40	1		1	AUTS2	7	70229813	Silent	SNP	G	TCGA-24-0982-01A-01W-0488-09	26383197	70229813	88908850	16	12056											
CLDN15	24146	genome.wustl.edu	37	7	100877639	100877639	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr7:100877639C>T	ENST00000401528.1	-	3	1427	c.302G>A	c.(301-303)cGc>cAc	p.R101H	CLDN15_ENST00000308344.5_Missense_Mutation_p.R101H|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	101					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.R101H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GTTGGTGCAGCGCAGGCCCGC	0.652																																																1	Substitution - Missense(1)	ovary(1)	7											53	59	57					7																	100877639		2203	4300	6503	100664359	SO:0001583	missense	24146			AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"Claudins"	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.302G>A	7.37:g.100877639C>T	ENSP00000385300:p.Arg101His		100664359	B3KPB5	Missense_Mutation	SNP	ENST00000401528.1	37	CCDS5717.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071706	0.76301	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000412417	D;D;D	0.88741	-2.42;-2.42;-2.42	5.11	5.11	0.69529	.	0.125473	0.56097	D	0.000026	D	0.93025	0.7780	M	0.78637	2.42	0.34308	D	0.685095	D	0.64830	0.994	D	0.66847	0.947	D	0.95530	0.8602	10	0.87932	D	0	.	9.6297	0.39772	0.0:0.9052:0.0:0.0948	.	101	P56746	CLD15_HUMAN	H	101;101;78	ENSP00000308870:R101H;ENSP00000385300:R101H;ENSP00000390230:R78H	ENSP00000308870:R101H	R	-	2	0	CLDN15	100664359	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.348000	0.59379	2.379000	0.81126	0.462000	0.41574	CGC		0.652	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		T	100877639	C	T	100877639	3	4	209	1	0	0	0	0	1	0	0	0	3476	768	27	1	400	1	CLDN15	7	100877639	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09	30647826	100877639	58261024	17	12057											
DNAJB6	10049	genome.wustl.edu	37	7	157177652	157177652	+	Silent	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr7:157177652G>A	ENST00000262177.4	+	7	775	c.570G>A	c.(568-570)tcG>tcA	p.S190S	DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000429029.2_Silent_p.S190S|DNAJB6_ENST00000452797.2_Silent_p.S141S	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	190	Interaction with KRT18.|Ser-rich.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.S190S(1)		central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACTTCAAATCGATATCAACTT	0.403																																					Esophageal Squamous(46;195 967 1350 20350 43814)											1	Substitution - coding silent(1)	ovary(1)	7											111	107	108					7																	157177652		2203	4300	6503	156870413	SO:0001819	synonymous_variant	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.570G>A	7.37:g.157177652G>A			156870413	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Silent	SNP	ENST00000262177.4	37	CCDS5946.1																																																																																				0.403	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			A	157177652	G	A	157177652	2	1	209	1	0	0	0	0	0	0	0	1	4624	1045	37	1		1	DNAJB6	7	157177652	Silent	SNP	G	TCGA-24-0982-01A-01W-0488-09	56300013	157177652	1961011	18	12058											
MYOM2	9172	genome.wustl.edu	37	8	2057292	2057292	+	Silent	SNP	T	T	C			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr8:2057292T>C	ENST00000262113.4	+	25	3291	c.3150T>C	c.(3148-3150)atT>atC	p.I1050I	MYOM2_ENST00000523438.1_Silent_p.I475I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1050					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.I1050I(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACCGATTTATTATTAACGACA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	8											87	84	85					8																	2057292		2203	4300	6503	2044699	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3150T>C	8.37:g.2057292T>C			2044699	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.473	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		C	2057292	T	C	2057292	2	2	209	1	0	0	0	0	0	0	0	1	10092	1742	61	4		4	MYOM2	8	2057292	Silent	SNP	T	TCGA-24-0982-01A-01W-0488-09		2057292	144306730	19	12059											
SYBU	55638	genome.wustl.edu	37	8	110587148	110587148	+	Missense_Mutation	SNP	C	C	T	rs74885615		TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr8:110587148C>T	ENST00000422135.1	-	8	2494	c.1979G>A	c.(1978-1980)cGt>cAt	p.R660H	SYBU_ENST00000528331.1_Missense_Mutation_p.R541H|SYBU_ENST00000532779.1_Missense_Mutation_p.R592H|SYBU_ENST00000533171.1_Missense_Mutation_p.R660H|SYBU_ENST00000433638.1_Missense_Mutation_p.R660H|SYBU_ENST00000424158.2_Missense_Mutation_p.R665H|SYBU_ENST00000276646.9_Missense_Mutation_p.R660H|SYBU_ENST00000529175.1_Missense_Mutation_p.R454H|SYBU_ENST00000533065.1_Missense_Mutation_p.R541H|SYBU_ENST00000528647.1_Missense_Mutation_p.R659H|SYBU_ENST00000446070.2_Missense_Mutation_p.R659H|SYBU_ENST00000408908.2_Missense_Mutation_p.R660H|SYBU_ENST00000419099.1_Missense_Mutation_p.R659H|SYBU_ENST00000529690.1_Missense_Mutation_p.R530H|SYBU_ENST00000399066.3_Missense_Mutation_p.R657H|SYBU_ENST00000440310.1_Missense_Mutation_p.R660H|SYBU_ENST00000533895.1_Missense_Mutation_p.R659H|SYBU_ENST00000408889.3_Missense_Mutation_p.R541H|SYBU_ENST00000527707.1_5'Flank	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	660					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R657H(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GGTTTTGATACGGAAGGCGGT	0.527													T|||	1	0.000199681	0	0	5008	,	,		19819	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	8						T	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4078		0,0,2039	80	84	83		1976,1979,1979,1622,1976,1979,1622,1979,1976,1979,1976,1979,1622,1970,1976	4.5	0	8	dbSNP_131	83	1,8355		0,1,4177	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	SYBU	NM_001099743.1,NM_001099744.1,NM_001099745.1,NM_001099746.1,NM_001099747.1,NM_001099748.1,NM_001099749.1,NM_001099750.1,NM_001099751.1,NM_001099752.1,NM_001099753.1,NM_001099754.1,NM_001099755.1,NM_001099756.1,NM_017786.5	29,29,29,29,29,29,29,29,29,29,29,29,29,29,29	0,1,6216	TT,TC,CC		0.012,0.0,0.0080	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	659/663,660/664,660/664,541/545,659/663,660/664,541/545,660/664,659/663,660/664,659/663,660/664,541/545,657/661,659/663	110587148	1,12433	2039	4178	6217	110656324	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1979G>A	8.37:g.110587148C>T	ENSP00000407118:p.Arg660His		110656324	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	0.016	-1.531508	0.00951	0.0	1.2E-4	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.7	4.53	0.55603	.	0.458427	0.26048	N	0.026660	T	0.06416	0.0165	N	0.00237	-1.79	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0	T	0.35919	-0.9769	9	0.07325	T	0.83	-5.3549	6.9948	0.24777	0.0:0.0754:0.1488:0.7759	.	530;592;659;660;657	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	H	659;665;592;657;659;541;454;660;659;660;659;660;660;660;541;541;530;660	.	ENSP00000276646:R660H	R	-	2	0	SYBU	110656324	0.000000	0.05858	0.045000	0.18777	0.244000	0.25665	-0.464000	0.06688	0.422000	0.26005	-0.254000	0.11334	CGT		0.527	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		T	110587148	C	T	110587148	3	4	209	1	0	0	0	0	1	0	0	0	15427	536	19	1	16	1	SYBU	8	110587148	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09	108529856	110587148	35776874	20	12060											
FAM83A	84985	genome.wustl.edu	37	8	124195554	124195554	+	Missense_Mutation	SNP	G	G	A	rs376602872		TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr8:124195554G>A	ENST00000518448.1	+	2	2472	c.458G>A	c.(457-459)cGc>cAc	p.R153H	FAM83A_ENST00000318462.6_Missense_Mutation_p.R153H|FAM83A_ENST00000546351.1_Missense_Mutation_p.R153H|RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000522648.1_Missense_Mutation_p.R153H|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Missense_Mutation_p.R153H|FAM83A_ENST00000276699.6_Missense_Mutation_p.R153H			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	153								p.R153H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTCGTCCGCCGCTGCATCACC	0.607																																																1	Substitution - Missense(1)	ovary(1)	8						G	HIS/ARG,HIS/ARG	0,4394		0,0,2197	54	56	55		458,458	5.5	1	8		55	1,8587		0,1,4293	no	missense,missense	FAM83A	NM_032899.4,NM_207006.1	29,29	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	153/435,153/368	124195554	1,12981	2197	4294	6491	124264735	SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.458G>A	8.37:g.124195554G>A	ENSP00000428876:p.Arg153His		124264735	Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589895	0.86851	0.0	1.16E-4	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.14391	2.51;2.86;2.51;2.51;2.86;2.51	5.46	5.46	0.80206	.	0.116123	0.64402	D	0.000011	T	0.40791	0.1131	M	0.76574	2.34	0.41628	D	0.989009	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.977;0.955;0.989	T	0.25676	-1.0125	10	0.66056	D	0.02	-33.6774	19.2957	0.94120	0.0:0.0:1.0:0.0	.	153;153;153	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	H	153	ENSP00000428876:R153H;ENSP00000440565:R153H;ENSP00000445218:R153H;ENSP00000323034:R153H;ENSP00000427979:R153H;ENSP00000276699:R153H	ENSP00000276699:R153H	R	+	2	0	FAM83A	124264735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.362000	0.52314	2.548000	0.85928	0.561000	0.74099	CGC		0.607	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		A	124195554	G	A	124195554	3	1	209	1	0	0	0	0	1	0	0	0	5633	1087	38	1	460	1	FAM83A	8	124195554	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09	13608406	124195554	22168468	21	12061											
ZNF16	7564	genome.wustl.edu	37	8	146157787	146157787	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr8:146157787G>T	ENST00000276816.4	-	4	572	c.386C>A	c.(385-387)tCc>tAc	p.S129Y	ZNF16_ENST00000394909.2_Missense_Mutation_p.S129Y	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	129	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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.S129Y(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGGGAGAGGGACTGTGGCAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	8											74	79	77					8																	146157787		2203	4300	6503	146128591	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.386C>A	8.37:g.146157787G>T	ENSP00000276816:p.Ser129Tyr		146128591	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537239	0.27475	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351	T;T;T	0.09630	2.96;2.96;4.58	4.17	3.28	0.37604	.	.	.	.	.	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	D	0.55385	0.971	P	0.51355	0.667	T	0.22138	-1.0225	9	0.59425	D	0.04	.	9.6158	0.39690	0.0:0.2137:0.7863:0.0	.	129	P17020	ZNF16_HUMAN	Y	129	ENSP00000276816:S129Y;ENSP00000378369:S129Y;ENSP00000434321:S129Y	ENSP00000276816:S129Y	S	-	2	0	ZNF16	146128591	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	0.027000	0.13621	0.928000	0.37168	0.563000	0.77884	TCC		0.562	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		T	146157787	G	T	146157787	3	4	209	1	0	0	0	0	1	0	0	0	17738	1174	41	3	1666	3	ZNF16	8	146157787	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09	21962233	146157787	206235	22	12062											
IARS	3376	genome.wustl.edu	37	9	95013039	95013039	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr9:95013039G>C	ENST00000375643.3	-	23	2651	c.2385C>G	c.(2383-2385)gaC>gaG	p.D795E	IARS_ENST00000447699.2_Missense_Mutation_p.D685E|IARS_ENST00000443024.2_Missense_Mutation_p.D795E|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	795					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.D795E(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GTGTGTCCTTGTCCTGAACAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	9											157	119	132					9																	95013039		2203	4300	6503	94052860	SO:0001583	missense	3376			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2385C>G	9.37:g.95013039G>C	ENSP00000364794:p.Asp795Glu		94052860	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	4.790	0.146866	0.09134	.	.	ENSG00000196305	ENST00000375643;ENST00000451588;ENST00000443024;ENST00000543028;ENST00000447699;ENST00000375660;ENST00000421189;ENST00000436450;ENST00000449893	T;T;T	0.13778	2.56;2.56;2.56	5.52	0.0994	0.14502	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.131761	0.64402	N	0.000002	T	0.03305	0.0096	N	0.02985	-0.445	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.14023	0.01;0.004;0.004	T	0.43032	-0.9416	10	0.02654	T	1	-14.3119	3.3713	0.07222	0.2362:0.4479:0.2119:0.104	.	305;795;640	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	E	795;27;795;19;685;795;19;27;27	ENSP00000364794:D795E;ENSP00000406448:D795E;ENSP00000415020:D685E	ENSP00000364794:D795E	D	-	3	2	IARS	94052860	0.722000	0.28017	0.998000	0.56505	0.991000	0.79684	-0.091000	0.11146	0.023000	0.15187	0.655000	0.94253	GAC		0.478	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		C	95013039	G	C	95013039	3	2	209	1	0	0	0	0	1	0	0	0	7473	1368	48	3	1451	3	IARS	9	95013039	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09		95013039	46200392	23	12063											
DNM1	1759	genome.wustl.edu	37	9	131008774	131008774	+	Silent	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr9:131008774G>A	ENST00000372923.3	+	16	1865	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	DNM1_ENST00000475805.1_Silent_p.T591T|DNM1_ENST00000393594.3_Silent_p.T591T|DNM1_ENST00000493925.1_3'UTR|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000341179.7_Silent_p.T591T|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000486160.1_Silent_p.T591T	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	591	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.T591T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCTTTAACACGGAGCAGAGGT	0.552																																					GBM(113;146 1575 2722 28670 29921)											1	Substitution - coding silent(1)	ovary(1)	9											138	97	111					9																	131008774		2203	4300	6503	130048595	SO:0001819	synonymous_variant	1759			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1773G>A	9.37:g.131008774G>A			130048595	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	CCDS6895.1																																																																																				0.552	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		A	131008774	G	A	131008774	2	1	209	1	0	0	0	0	0	0	0	1	4670	1103	39	1		1	DNM1	9	131008774	Silent	SNP	G	TCGA-24-0982-01A-01W-0488-09	35995735	131008774	10204657	24	12064											
MBL2	4153	genome.wustl.edu	37	10	54531252	54531252	+	Silent	SNP	G	G	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr10:54531252G>T	ENST00000373968.3	-	1	208	c.144C>A	c.(142-144)ggC>ggA	p.G48G		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	48	Collagen-like.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)	p.G48G(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCCCATCTTTGCCTGGGAAGC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	10											127	114	119					10																	54531252		2203	4300	6503	54201258	SO:0001819	synonymous_variant	4153			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.144C>A	10.37:g.54531252G>T			54201258	Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Silent	SNP	ENST00000373968.3	37	CCDS7247.1																																																																																				0.542	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		T	54531252	G	T	54531252	2	4	209	1	0	0	0	0	0	0	0	1	9350	1306	46	3		3	MBL2	10	54531252	Silent	SNP	G	TCGA-24-0982-01A-01W-0488-09		54531252	81003495	25	12065											
DOCK1	1793	genome.wustl.edu	37	10	129172467	129172467	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr10:129172467G>A	ENST00000280333.6	+	35	3710	c.3601G>A	c.(3601-3603)Gtc>Atc	p.V1201I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1201					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1201I(2)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GAGCTGCACCGTCAATGTGCT	0.443																																																2	Substitution - Missense(2)	ovary(1)|central_nervous_system(1)	10											56	56	56					10																	129172467		1964	4167	6131	129062457	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3601G>A	10.37:g.129172467G>A	ENSP00000280333:p.Val1201Ile		129062457	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	28.1	4.894732	0.91962	.	.	ENSG00000150760	ENST00000280333	T	0.38240	1.15	5.52	5.52	0.82312	.	0.071608	0.56097	D	0.000037	T	0.60932	0.2307	M	0.87097	2.86	0.80722	D	1	D;D;D	0.69078	0.994;0.995;0.997	P;P;P	0.54544	0.755;0.559;0.693	T	0.67654	-0.5615	10	0.72032	D	0.01	.	19.2287	0.93829	0.0:0.0:1.0:0.0	.	1201;1267;1201	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	I	1201	ENSP00000280333:V1201I	ENSP00000280333:V1201I	V	+	1	0	DOCK1	129062457	1.000000	0.71417	0.961000	0.40146	0.795000	0.44927	9.575000	0.98187	2.878000	0.98634	0.650000	0.86243	GTC		0.443	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		A	129172467	G	A	129172467	3	1	209	1	0	0	0	0	1	0	0	0	4684	1145	40	1	3739	1	DOCK1	10	129172467	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09	74641215	129172467	6362280	26	12066											
TUB	7275	genome.wustl.edu	37	11	8122521	8122521	+	Missense_Mutation	SNP	T	T	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr11:8122521T>A	ENST00000299506.2	+	11	1513	c.1364T>A	c.(1363-1365)tTc>tAc	p.F455Y	TUB_ENST00000534099.1_Missense_Mutation_p.F461Y|TUB_ENST00000305253.4_Missense_Mutation_p.F510Y	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	455					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.F510Y(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GTGAAGAACTTCCAGATCATC	0.517																																																1	Substitution - Missense(1)	ovary(1)	11											183	155	164					11																	8122521		2201	4296	6497	8079097	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1364T>A	11.37:g.8122521T>A	ENSP00000299506:p.Phe455Tyr		8079097	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	T	33	5.219874	0.95139	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.91792	-2.91;-2.91;-2.91	5.43	5.43	0.79202	Tubby, C-terminal (4);Tubby, C-terminal, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98507	1.0617	10	0.87932	D	0	-8.8011	15.7477	0.77958	0.0:0.0:0.0:1.0	.	461;455;510	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	Y	461;510;455	ENSP00000434400:F461Y;ENSP00000305426:F510Y;ENSP00000299506:F455Y	ENSP00000299506:F455Y	F	+	2	0	TUB	8079097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.187000	0.69744	0.533000	0.62120	TTC		0.517	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		A	8122521	T	A	8122521	3	1	209	1	0	0	0	0	1	0	0	0	16742	1783	62	5	1617	5	TUB	11	8122521	Missense_Mutation	SNP	T	TCGA-24-0982-01A-01W-0488-09		8122521	126883995	27	12067											
SLC17A6	57084	genome.wustl.edu	37	11	22398211	22398211	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr11:22398211A>G	ENST00000263160.3	+	11	1843	c.1406A>G	c.(1405-1407)aAg>aGg	p.K469R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	469					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.K469R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCAATGACAAAGAATAAGGTA	0.348																																																1	Substitution - Missense(1)	ovary(1)	11											177	154	162					11																	22398211		2203	4300	6503	22354787	SO:0001583	missense	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1406A>G	11.37:g.22398211A>G	ENSP00000263160:p.Lys469Arg		22354787	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430702	0.62844	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.54675	0.56	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	L	0.49256	1.55	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.38779	-0.9645	10	0.25106	T	0.35	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	469	Q9P2U8	VGLU2_HUMAN	R	469;357	ENSP00000263160:K469R	ENSP00000263160:K469R	K	+	2	0	SLC17A6	22354787	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	AAG		0.348	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		G	22398211	A	G	22398211	3	3	209	1	0	0	0	0	1	0	0	0	14424	72	3	4	1448	4	SLC17A6	11	22398211	Missense_Mutation	SNP	A	TCGA-24-0982-01A-01W-0488-09	14275690	22398211	112608305	28	12068											
TP53I11	9537	genome.wustl.edu	37	11	44956477	44956477	+	Missense_Mutation	SNP	A	A	C			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr11:44956477A>C	ENST00000533940.1	-	10	1132	c.528T>G	c.(526-528)atT>atG	p.I176M	TP53I11_ENST00000531130.2_5'Flank|TP53I11_ENST00000395648.3_Missense_Mutation_p.I176M|TP53I11_ENST00000525680.1_Missense_Mutation_p.I176M|TP53I11_ENST00000308212.5_Missense_Mutation_p.I176M	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	176					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)		p.I176M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						AATAGTAGTAAATGCTGATGA	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											101	99	100					11																	44956477		2203	4299	6502	44913053	SO:0001583	missense	9537			AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.528T>G	11.37:g.44956477A>C	ENSP00000436152:p.Ile176Met		44913053	Q3ZCS0	Missense_Mutation	SNP	ENST00000533940.1	37	CCDS7911.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626136	0.28978	.	.	ENSG00000175274	ENST00000395648;ENST00000308212;ENST00000308220;ENST00000533940;ENST00000525680	.	.	.	5.1	1.43	0.22495	.	.	.	.	.	T	0.27419	0.0673	N	0.12182	0.205	0.38723	D	0.953483	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.004	T	0.06250	-1.0837	8	0.21014	T	0.42	.	4.3094	0.10964	0.5664:0.1662:0.2674:0.0	.	123;176	Q8N8U5;O14683	.;P5I11_HUMAN	M	176;176;123;176;176	.	ENSP00000309532:I176M	I	-	3	3	TP53I11	44913053	0.989000	0.36119	0.978000	0.43139	0.872000	0.50106	0.329000	0.19698	0.003000	0.14656	0.454000	0.30748	ATT		0.632	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389909.1	NM_006034		C	44956477	A	C	44956477	3	2	209	1	0	0	0	0	1	0	0	0	16385	10	1	5	45	5	TP53I11	11	44956477	Missense_Mutation	SNP	A	TCGA-24-0982-01A-01W-0488-09	22558266	44956477	90050039	29	12069											
KCNA5	3741	genome.wustl.edu	37	12	5153871	5153871	+	Silent	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr12:5153871G>A	ENST00000252321.3	+	1	787	c.558G>A	c.(556-558)cgG>cgA	p.R186R		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	186					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.R186R(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCCGCCTGCGGAGGCCGGTCA	0.637																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	12											36	40	39					12																	5153871		2203	4300	6503	5024132	SO:0001819	synonymous_variant	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.558G>A	12.37:g.5153871G>A			5024132	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	CCDS8536.1																																																																																				0.637	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		A	5153871	G	A	5153871	2	1	209	1	0	0	0	0	0	0	0	1	8006	1161	41	2		2	KCNA5	12	5153871	Silent	SNP	G	TCGA-24-0982-01A-01W-0488-09		5153871	128698024	30	12070											
POSTN	10631	genome.wustl.edu	37	13	38138662	38138663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr13:38138662_38138663insT	ENST00000379747.4	-	22	2583_2584	c.2466_2467insA	c.(2464-2469)aaagttfs	p.V823fs	POSTN_ENST00000379749.4_Frame_Shift_Ins_p.V795fs|POSTN_ENST00000379742.4_Frame_Shift_Ins_p.V766fs|POSTN_ENST00000541481.1_Frame_Shift_Ins_p.V736fs|POSTN_ENST00000541179.1_Frame_Shift_Ins_p.V768fs|POSTN_ENST00000379743.4_Frame_Shift_Ins_p.V796fs	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	823					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.V823fs*5(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACCTTGAACTTTTTTGTTGG	0.332																																																1	Insertion - Frameshift(1)	ovary(1)	13																																								37036663	SO:0001589	frameshift_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2467dupA	13.37:g.38138668_38138668dupT	ENSP00000369071:p.Val823fs		37036662	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Frame_Shift_Ins	INS	ENST00000379747.4	37	CCDS9364.1																																																																																				0.332	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		T	38138663	-	T	38138662	7	5	209	1	0	1	1	0	0	0	0	0	12259	565	20	0	51	0	POSTN	13	38138662	Frame_Shift_Ins	INS	-	TCGA-24-0982-01A-01W-0488-09		38138662	77031216	31	12071											
MYO16	23026	genome.wustl.edu	37	13	109318424	109318424	+	Silent	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr13:109318424G>A	ENST00000357550.2	+	1	194	c.153G>A	c.(151-153)gcG>gcA	p.A51A	MYO16_ENST00000356711.2_Silent_p.A51A|MYO16_ENST00000251041.5_Silent_p.A51A	NM_001198950.1	NP_001185879.1			myosin XVI									p.A51A(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGAAGCATGCGAAGAATCCGA	0.478																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	13											76	67	70					13																	109318424		2203	4300	6503	108116425	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.153G>A	13.37:g.109318424G>A			108116425		Silent	SNP	ENST00000357550.2	37	CCDS32008.1																																																																																				0.478	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		A	109318424	G	A	109318424	2	1	209	1	0	0	0	0	0	0	0	1	10064	1045	37	1		1	MYO16	13	109318424	Silent	SNP	G	TCGA-24-0982-01A-01W-0488-09	71179762	109318424	5851454	32	12072											
PSMB5	5693	genome.wustl.edu	37	14	23504059	23504059	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr14:23504059A>T	ENST00000361611.6	-	1	295	c.32T>A	c.(31-33)cTa>cAa	p.L11Q	AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000460922.2_Missense_Mutation_p.L11Q|PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000493471.2_Missense_Mutation_p.L11Q	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.L11Q(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GTTCACCGGTAGCGGTCTCTC	0.597																																																1	Substitution - Missense(1)	ovary(1)	14											43	41	42					14																	23504059		2203	4300	6503	22573899	SO:0001583	missense	5693			D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"Proteasome (prosome, macropain) subunits"	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.32T>A	14.37:g.23504059A>T	ENSP00000355325:p.Leu11Gln		22573899	B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.805368	0.50315	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000460922	T;T;T	0.55413	0.52;0.52;0.52	5.22	5.22	0.72569	.	0.626565	0.15106	N	0.280242	T	0.48114	0.1482	N	0.24115	0.695	0.80722	D	1	P;B	0.48503	0.911;0.151	P;B	0.49332	0.607;0.149	T	0.33394	-0.9870	10	0.27785	T	0.31	-1.7546	14.0914	0.64993	1.0:0.0:0.0:0.0	.	11;11	P28074-2;P28074	.;PSB5_HUMAN	Q	11	ENSP00000355325:L11Q;ENSP00000452424:L11Q;ENSP00000451286:L11Q	ENSP00000334973:L11Q	L	-	2	0	PSMB5	22573899	0.995000	0.38212	0.898000	0.35279	0.845000	0.48019	5.589000	0.67523	1.967000	0.57214	0.454000	0.30748	CTA		0.597	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		T	23504059	A	T	23504059	3	4	209	1	0	0	0	0	1	0	0	0	12683	420	15	5	860	5	PSMB5	14	23504059	Missense_Mutation	SNP	A	TCGA-24-0982-01A-01W-0488-09		23504059	83845481	33	12073											
DLGAP5	9787	genome.wustl.edu	37	14	55642645	55642645	+	Missense_Mutation	SNP	A	A	C			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr14:55642645A>C	ENST00000247191.2	-	9	1357	c.1141T>G	c.(1141-1143)Tgt>Ggt	p.C381G	DLGAP5_ENST00000395425.2_Missense_Mutation_p.C381G	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	381					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.C381G(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCCAAAGGACATGGCAATTTA	0.284																																																1	Substitution - Missense(1)	ovary(1)	14											167	155	159					14																	55642645		2203	4298	6501	54712398	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1141T>G	14.37:g.55642645A>C	ENSP00000247191:p.Cys381Gly		54712398	A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	A	3.462	-0.109767	0.06924	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.16073	2.37;2.37	4.69	1.12	0.20585	.	0.940554	0.08988	N	0.864844	T	0.15176	0.0366	L	0.57536	1.79	0.09310	N	1	P;P	0.39044	0.656;0.528	B;B	0.36378	0.207;0.223	T	0.25641	-1.0126	10	0.20046	T	0.44	.	6.4174	0.21723	0.7107:0.0:0.2893:0.0	.	381;381	A8MTM6;Q15398	.;DLGP5_HUMAN	G	381	ENSP00000378815:C381G;ENSP00000247191:C381G	ENSP00000247191:C381G	C	-	1	0	DLGAP5	54712398	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.218000	0.09240	0.189000	0.20188	-0.256000	0.11100	TGT		0.284	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		C	55642645	A	C	55642645	3	2	209	1	0	0	0	0	1	0	0	0	4563	217	8	5	1538	5	DLGAP5	14	55642645	Missense_Mutation	SNP	A	TCGA-24-0982-01A-01W-0488-09	32138586	55642645	51706895	34	12074											
DUOXA1	405753	genome.wustl.edu	37	15	45410236	45410236	+	3'UTR	SNP	C	C	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr15:45410236C>T	ENST00000323030.5	+	0	1377				DUOXA1_ENST00000430224.2_Silent_p.A296A|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Silent_p.A341A|DUOXA1_ENST00000267803.4_Silent_p.A341A	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2						hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.A341A(1)					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CTCGGACATCCGCAGGCACCA	0.547											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	15											17	20	19					15																	45410236		2173	4226	6399	43197528	SO:0001624	3_prime_UTR_variant	90527			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.*129C>T	15.37:g.45410236C>T		931	43197528	B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	CCDS10118.2																																																																																				0.547	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		T	45410236	C	T	45410236	1	4	209	0	1	0	0	0	0	0	0	0	4802	639	23	1		1	DUOXA1	15	45410236	3'UTR	SNP	C	TCGA-24-0982-01A-01W-0488-09		45410236	57121156	35	12075											
GLCE	26035	genome.wustl.edu	37	15	69561147	69561147	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr15:69561147C>T	ENST00000261858.2	+	5	1646	c.1418C>T	c.(1417-1419)gCa>gTa	p.A473V	GLCE_ENST00000559420.2_Missense_Mutation_p.A409V	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	473					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.A473V(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GCTTTAAGGGCAACAGCCCCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	15											58	64	62					15																	69561147		2200	4298	6498	67348201	SO:0001583	missense	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1418C>T	15.37:g.69561147C>T	ENSP00000261858:p.Ala473Val		67348201	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580314	0.86645	.	.	ENSG00000138604	ENST00000261858	T	0.50548	0.74	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.69347	-0.5169	10	0.56958	D	0.05	-15.3981	17.5279	0.87805	0.0:1.0:0.0:0.0	.	473	O94923	GLCE_HUMAN	V	473	ENSP00000261858:A473V	ENSP00000261858:A473V	A	+	2	0	GLCE	67348201	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.687000	0.84139	2.479000	0.83701	0.557000	0.71058	GCA		0.418	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		T	69561147	C	T	69561147	3	4	209	1	0	0	0	0	1	0	0	0	6432	710	25	2	1428	2	GLCE	15	69561147	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09	24150911	69561147	32970245	36	12076											
SCAMP5	192683	genome.wustl.edu	37	15	75308997	75308997	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr15:75308997G>A	ENST00000361900.6	+	5	407	c.200G>A	c.(199-201)gGa>gAa	p.G67E	SCAMP5_ENST00000425597.3_Missense_Mutation_p.G67E|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000568081.1_5'Flank|SCAMP5_ENST00000562212.1_Missense_Mutation_p.G67E	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	67					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)		p.G67E(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						GGAGGCGGGGGAGCCACCAAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	15											120	126	124					15																	75308997		2153	4256	6409	73096050	SO:0001583	missense	192683			AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.200G>A	15.37:g.75308997G>A	ENSP00000355387:p.Gly67Glu		73096050	B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768773	0.69878	.	.	ENSG00000198794	ENST00000361900;ENST00000425597	T;T	0.15952	2.38;2.38	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	L	0.46885	1.475	0.80722	D	1	D;B	0.63046	0.992;0.434	P;P	0.59825	0.864;0.507	T	0.02519	-1.1147	10	0.10111	T	0.7	-9.244	17.294	0.87164	0.0:0.0:1.0:0.0	.	67;67	Q8TAC9-2;Q8TAC9	.;SCAM5_HUMAN	E	67	ENSP00000355387:G67E;ENSP00000406547:G67E	ENSP00000355387:G67E	G	+	2	0	SCAMP5	73096050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.614000	0.74197	2.391000	0.81399	0.561000	0.74099	GGA		0.592	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		A	75308997	G	A	75308997	3	1	209	1	0	0	0	0	1	0	0	0	13877	1174	41	2	210	2	SCAMP5	15	75308997	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09	5747850	75308997	27222395	37	12077											
ZKSCAN2	342357	genome.wustl.edu	37	16	25266695	25266695	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr16:25266695G>C	ENST00000328086.7	-	2	1221	c.418C>G	c.(418-420)Cgg>Ggg	p.R140G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	140					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R140G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGCTTCTCCCGGTGCACGGGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	16											38	35	36					16																	25266695		2197	4300	6497	25174196	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.418C>G	16.37:g.25266695G>C	ENSP00000331626:p.Arg140Gly		25174196	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.145088	0.01714	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.13089	2.62	4.77	1.17	0.20885	Transcription regulator SCAN (1);	1.266630	0.05322	N	0.526708	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.10450	0.005;0.003	T	0.39440	-0.9614	10	0.16896	T	0.51	0.4572	1.2547	0.01989	0.5265:0.1765:0.1017:0.1954	.	140;140	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	G	140	ENSP00000331626:R140G	ENSP00000331626:R140G	R	-	1	2	ZKSCAN2	25174196	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.753000	0.26376	0.063000	0.16370	-0.410000	0.06199	CGG		0.567	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		C	25266695	G	C	25266695	3	2	209	1	0	0	0	0	1	0	0	0	17687	1115	39	3	2509	3	ZKSCAN2	16	25266695	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09		25266695	65088058	38	12078											
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	7518264	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	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	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	209	1	0	0	0	0	1	0	0	0	16381	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09		7577539	73617671	39	12079											
CCDC40	55036	genome.wustl.edu	37	17	78061473	78061473	+	Silent	SNP	C	C	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr17:78061473C>T	ENST00000397545.4	+	15	2544	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	CCDC40_ENST00000374877.3_Silent_p.D839D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	839					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D839D(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGACAACGACCTGAAGAAGC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	17											77	89	85					17																	78061473		2079	4218	6297	75676068	SO:0001819	synonymous_variant	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2517C>T	17.37:g.78061473C>T			75676068	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	CCDS42395.1																																																																																				0.522	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		T	78061473	C	T	78061473	2	4	209	1	0	0	0	0	0	0	0	1	2812	506	18	2		2	CCDC40	17	78061473	Silent	SNP	C	TCGA-24-0982-01A-01W-0488-09	70483934	78061473	3133737	40	12080											
CDH22	64405	genome.wustl.edu	37	20	44815563	44815563	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr20:44815563C>T	ENST00000372262.3	-	8	1847	c.1447G>A	c.(1447-1449)Gca>Aca	p.A483T	CDH22_ENST00000537909.1_Missense_Mutation_p.A483T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	483	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A483T(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTAGGGATGCCCGGGATAGC	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											227	206	213					20																	44815563		2203	4300	6503	44248970	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1447G>A	20.37:g.44815563C>T	ENSP00000361336:p.Ala483Thr		44248970	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848521	0.51164	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.50548	0.74;0.74	4.12	4.12	0.48240	Cadherin (5);Cadherin-like (1);	0.505774	0.21808	N	0.068810	T	0.33030	0.0849	N	0.16201	0.385	0.31082	N	0.711841	B	0.06786	0.001	B	0.04013	0.001	T	0.38023	-0.9680	10	0.54805	T	0.06	.	15.5603	0.76240	0.0:1.0:0.0:0.0	.	483	Q9UJ99	CAD22_HUMAN	T	483	ENSP00000361336:A483T;ENSP00000437790:A483T	ENSP00000361336:A483T	A	-	1	0	CDH22	44248970	0.981000	0.34729	0.991000	0.47740	0.903000	0.53119	2.074000	0.41529	2.151000	0.67156	0.442000	0.29010	GCA		0.547	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		T	44815563	C	T	44815563	3	4	209	1	0	0	0	0	1	0	0	0	3107	739	26	2	1055	2	CDH22	20	44815563	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09		44815563	18209957	41	12081											
SLC35C2	51006	genome.wustl.edu	37	20	44984490	44984490	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr20:44984490G>A	ENST00000372227.1	-	5	899	c.359C>T	c.(358-360)gCt>gTt	p.A120V	SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000493599.1_5'Flank|SLC35C2_ENST00000372230.5_Missense_Mutation_p.A120V|SLC35C2_ENST00000543605.1_Missense_Mutation_p.A149V|SLC35C2_ENST00000243896.2_Missense_Mutation_p.A120V|SLC35C2_ENST00000317734.8_Missense_Mutation_p.A120V	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	120					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A120V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GAAGAGGACAGCTGAGGATTT	0.527																																																1	Substitution - Missense(1)	ovary(1)	20											151	142	145					20																	44984490		2203	4300	6503	44417897	SO:0001583	missense	51006				CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"Solute carriers"	17117	protein-coding gene	gene with protein product			"ovarian cancer overexpressed 1", "solute carrier family 35, member C2"	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.359C>T	20.37:g.44984490G>A	ENSP00000361301:p.Ala120Val		44417897	B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182466	0.94885	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372230;ENST00000543605	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.93887	0.8044	M	0.64170	1.965	0.80722	D	1	P;D;P;D	0.61080	0.915;0.989;0.767;0.976	P;P;P;P	0.54856	0.596;0.762;0.661;0.761	D	0.94048	0.7315	10	0.59425	D	0.04	-10.2452	17.7923	0.88558	0.0:0.0:1.0:0.0	.	149;6;120;120	F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.;.;.;S35C2_HUMAN	V	120;120;120;120;149	ENSP00000318960:A120V;ENSP00000243896:A120V;ENSP00000361301:A120V;ENSP00000361304:A120V;ENSP00000439974:A149V	ENSP00000243896:A120V	A	-	2	0	SLC35C2	44417897	1.000000	0.71417	0.363000	0.25875	0.992000	0.81027	8.688000	0.91260	2.746000	0.94184	0.655000	0.94253	GCT		0.527	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		A	44984490	G	A	44984490	3	1	209	1	0	0	0	0	1	0	0	0	14583	971	34	2	762	2	SLC35C2	20	44984490	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09	168927	44984490	18041030	42	12082											
CBLN4	140689	genome.wustl.edu	37	20	54579014	54579014	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr20:54579014C>T	ENST00000064571.2	-	1	1514	c.214G>A	c.(214-216)Gcc>Acc	p.A72T		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	72	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.A72T(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GCCGAGAAGGCGACCTTGGAG	0.637																																																1	Substitution - Missense(1)	ovary(1)	20											118	123	122					20																	54579014		2203	4300	6503	54012421	SO:0001583	missense	140689			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.214G>A	20.37:g.54579014C>T	ENSP00000064571:p.Ala72Thr		54012421	A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465298	0.96257	.	.	ENSG00000054803	ENST00000064571	D	0.84873	-1.91	5.4	4.46	0.54185	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.045100	0.85682	N	0.000000	D	0.93923	0.8055	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95268	0.8375	10	0.87932	D	0	-21.7691	14.2838	0.66232	0.0:0.9284:0.0:0.0716	.	72	Q9NTU7	CBLN4_HUMAN	T	72	ENSP00000064571:A72T	ENSP00000064571:A72T	A	-	1	0	CBLN4	54012421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.343000	0.79319	1.409000	0.46915	0.655000	0.94253	GCC		0.637	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		T	54579014	C	T	54579014	3	4	209	1	0	0	0	0	1	0	0	0	2707	768	27	1	403	1	CBLN4	20	54579014	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09	9594524	54579014	8446506	43	12083											
L3MBTL2	83746	genome.wustl.edu	37	22	41605732	41605733	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	GG	GG	GG	AA	GG	GG	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr22:41605732_41605733GG>AA	ENST00000216237.5	+	2	215_216	c.57_58GG>AA	c.(55-60)gaGGaa>gaAAaa	p.E20K	RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	20	Poly-Glu.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGAGGAAGAGGAAGATGACGA	0.485																																																0			22																																								39935679	SO:0001583	missense	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	Exception_encountered	22.37:g.41605732_41605733delinsAA	ENSP00000216237:p.Glu20Lys		39935678	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	DNP	ENST00000216237.5	37	CCDS14011.1																																																																																				0.485	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		AA	41605733	GG	AA	41605732	3	1	209	1	0	0	0	0	1	0	0	0	8592	991	35	2	63	2	L3MBTL2	22	41605732	Missense_Mutation	DNP	GG	TCGA-24-0982-01A-01W-0488-09		41605732	9698834	44	12084			1	6		3	3	30	N	GG_G	9.358333e-10
L3MBTL2	83746	genome.wustl.edu	37	22	41605747	41605747	+	Silent	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr22:41605747G>A	ENST00000216237.5	+	2	230	c.72G>A	c.(70-72)ttG>ttA	p.L24L	RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	24					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L24L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGACGACTTGGAGCTGTTTG	0.468																																																1	Substitution - coding silent(1)	ovary(1)	22											184	185	185					22																	41605747		2203	4300	6503	39935693	SO:0001819	synonymous_variant	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.72G>A	22.37:g.41605747G>A			39935693	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	CCDS14011.1																																																																																				0.468	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		A	41605747	G	A	41605747	2	1	209	1	0	0	0	0	0	0	0	1	8592	1339	47	2		2	L3MBTL2	22	41605747	Silent	SNP	G	TCGA-24-0982-01A-01W-0488-09	15	41605747	9698819	45	12085			1	6		3	3	30	N	GG_G	9.358333e-10
L3MBTL2	83746	genome.wustl.edu	37	22	41605761	41605761	+	Missense_Mutation	SNP	G	G	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chr22:41605761G>A	ENST00000216237.5	+	2	244	c.86G>A	c.(85-87)gGc>gAc	p.G29D	RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	29					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G29D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGTTTGGTGGCTATGATAGT	0.483																																																1	Substitution - Missense(1)	ovary(1)	22											180	179	179					22																	41605761		2203	4300	6503	39935707	SO:0001583	missense	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.86G>A	22.37:g.41605761G>A	ENSP00000216237:p.Gly29Asp		39935707	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601921	0.87055	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	T	0.20463	2.07	5.37	4.35	0.52113	.	0.058631	0.64402	D	0.000003	T	0.16854	0.0405	L	0.29908	0.895	0.43693	D	0.996146	B	0.14012	0.009	B	0.12837	0.008	T	0.03493	-1.1031	10	0.38643	T	0.18	.	14.4551	0.67411	0.0724:0.0:0.9276:0.0	.	29	Q969R5	LMBL2_HUMAN	D	29;21	ENSP00000216237:G29D	ENSP00000216237:G29D	G	+	2	0	L3MBTL2	39935707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.100000	0.64560	2.528000	0.85240	0.655000	0.94253	GGC		0.483	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		A	41605761	G	A	41605761	3	1	209	1	0	0	0	0	1	0	0	0	8592	1203	42	2	92	2	L3MBTL2	22	41605761	Missense_Mutation	SNP	G	TCGA-24-0982-01A-01W-0488-09	14	41605761	9698805	46	12086			1	6		3	3	30	N	GG_G	9.358333e-10
SMC1A	8243	genome.wustl.edu	37	X	53432592	53432592	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0982-01A-01W-0488-09	TCGA-24-0982-10C-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	7667c0e6-e44a-448f-b118-6e2171a99b6c	41f442b7-c8ce-437d-abac-3130c8b51cb3	g.chrX:53432592C>A	ENST00000322213.4	-	11	1871	c.1744G>T	c.(1744-1746)Gat>Tat	p.D582Y	SMC1A_ENST00000375340.6_Missense_Mutation_p.D348Y	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	582	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.D582Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AGTTTCTCATCTGTAGGCTTC	0.532																																																1	Substitution - Missense(1)	ovary(1)	X											52	42	45					X																	53432592		2203	4300	6503	53449317	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1744G>T	X.37:g.53432592C>A	ENSP00000323421:p.Asp582Tyr		53449317	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079655	0.76528	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86497	-2.13;-2.13	5.15	5.15	0.70609	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.91341	0.7269	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;P;P	0.87578	0.998;0.905;0.878	D	0.92118	0.5701	10	0.72032	D	0.01	.	16.9916	0.86355	0.0:1.0:0.0:0.0	.	348;560;582	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	Y	582;348	ENSP00000323421:D582Y;ENSP00000364489:D348Y	ENSP00000323421:D582Y	D	-	1	0	SMC1A	53449317	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	2.565000	0.45939	2.476000	0.83614	0.600000	0.82982	GAT		0.532	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		A	53432592	C	A	53432592	3	1	209	1	0	0	0	0	1	0	0	0	14784	913	32	3	2017	3	SMC1A	23	53432592	Missense_Mutation	SNP	C	TCGA-24-0982-01A-01W-0488-09		53432592	101837968	47	12087											
EPHA2	1969	genome.wustl.edu	37	1	16456018	16456018	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:16456018C>G	ENST00000358432.5	-	16	2890	c.2736G>C	c.(2734-2736)tgG>tgC	p.W912C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	912	Negatively regulates interaction with ARHGEF16.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W912C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TGGACTCCAGCCACTCGGACA	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											70	63	66					1																	16456018		2203	4300	6503	16328605	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2736G>C	1.37:g.16456018C>G	ENSP00000351209:p.Trp912Cys		16328605	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663402	0.88251	.	.	ENSG00000142627	ENST00000358432	T	0.72282	-0.64	5.78	5.78	0.91487	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000083	D	0.89406	0.6706	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91945	0.5566	10	0.87932	D	0	.	18.5625	0.91105	0.0:1.0:0.0:0.0	.	912	P29317	EPHA2_HUMAN	C	912	ENSP00000351209:W912C	ENSP00000351209:W912C	W	-	3	0	EPHA2	16328605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.733000	0.84916	2.738000	0.93877	0.591000	0.81541	TGG		0.622	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		G	16456018	C	G	16456018	3	3	210	1	0	0	0	0	1	0	0	0	5167	740	26	3	202	3	EPHA2	1	16456018	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09		16456018	232794603	1	12088											
BMP8B	656	genome.wustl.edu	37	1	40230371	40230371	+	Silent	SNP	T	T	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:40230371T>C	ENST00000372827.3	-	4	1167	c.792A>G	c.(790-792)gcA>gcG	p.A264A	BMP8B_ENST00000397360.2_Silent_p.A289A	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	264					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)		p.A264A(1)		endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGGCCTCACTGCCCGAGGGG	0.672																																																1	Substitution - coding silent(1)	ovary(1)	1											70	75	73					1																	40230371		2199	4298	6497	40002958	SO:0001819	synonymous_variant	656			BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"Bone morphogenetic proteins", "Endogenous ligands"	1075	protein-coding gene	gene with protein product	"osteogenic protein 2"	602284	"bone morphogenetic protein 8 (osteogenic protein 2)"	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.792A>G	1.37:g.40230371T>C			40002958	E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Silent	SNP	ENST00000372827.3	37	CCDS444.1																																																																																				0.672	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		C	40230371	T	C	40230371	2	2	210	1	0	0	0	0	0	0	0	1	1467	1567	55	4		4	BMP8B	1	40230371	Silent	SNP	T	TCGA-24-1103-01A-01W-0488-09	23774353	40230371	209020250	2	12089											
LRRC7	57554	genome.wustl.edu	37	1	70573490	70573490	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:70573490C>A	ENST00000035383.5	+	24	4517	c.4487C>A	c.(4486-4488)cCt>cAt	p.P1496H	LRRC7_ENST00000310961.5_Missense_Mutation_p.P1454H|LRRC7_ENST00000415775.2_Missense_Mutation_p.P780H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1496	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P1496H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTACTGCAGCCTGGTGATAAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	1											143	131	135					1																	70573490		2203	4300	6503	70346078	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4487C>A	1.37:g.70573490C>A	ENSP00000035383:p.Pro1496His		70346078	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558299	0.86231	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.29397	1.57;1.57;1.57	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	M	0.89353	3.025	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.66416	-0.5929	10	0.72032	D	0.01	.	19.2394	0.93875	0.0:1.0:0.0:0.0	.	780;1449;1496	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	H	1454;1496;780;1272	ENSP00000309245:P1454H;ENSP00000035383:P1496H;ENSP00000394867:P780H	ENSP00000035383:P1496H	P	+	2	0	LRRC7	70346078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.113000	0.77095	2.634000	0.89283	0.655000	0.94253	CCT		0.388	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		A	70573490	C	A	70573490	3	1	210	1	0	0	0	0	1	0	0	0	9020	681	24	3	4581	3	LRRC7	1	70573490	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	30343119	70573490	178677131	3	12090											
VAV3	10451	genome.wustl.edu	37	1	108313293	108313293	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:108313293C>A	ENST00000370056.4	-	6	887	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	VAV3_ENST00000371846.4_Nonsense_Mutation_p.E140*|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Nonsense_Mutation_p.E205*	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	205	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.E205*(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTATATTTTTCTTCTGTCTGC	0.279																																																1	Substitution - Nonsense(1)	ovary(1)	1											119	122	121					1																	108313293		2201	4298	6499	108114816	SO:0001587	stop_gained	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.613G>T	1.37:g.108313293C>A	ENSP00000359073:p.Glu205*		108114816	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Nonsense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.834150|5.834150	0.97003|0.97003	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.052398|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75781	.|0.3896	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73084	.|-0.4094	.|3	0.33940|.	T|.	0.23|.	.|.	20.0706|20.0706	0.97721|0.97721	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	205;205;140|199	.|.	ENSP00000359073:E205X|.	E|K	-|-	1|3	0|2	VAV3|VAV3	108114816|108114816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.229000|7.229000	0.78088|0.78088	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.279	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		A	108313293	C	A	108313293	4	1	210	1	0	0	0	0	0	1	0	0	17133	922	32	3	2043	3	VAV3	1	108313293	Nonsense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	37739803	108313293	140937328	4	12091											
CHIA	27159	genome.wustl.edu	37	1	111861300	111861300	+	Splice_Site	SNP	G	G	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:111861300G>A	ENST00000369740.1	+	9	1018	c.915G>A	c.(913-915)gaG>gaA	p.E305E	CHIA_ENST00000430615.1_Splice_Site_p.E197E|CHIA_ENST00000353665.6_Splice_Site_p.E144E|CHIA_ENST00000343320.6_Splice_Site_p.E305E|CHIA_ENST00000451398.2_Splice_Site_p.E144E|CHIA_ENST00000483391.1_Splice_Site_p.E144E|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	305					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.E197E(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTTACTACGAGGTATGTAGAT	0.517																																																1	Substitution - coding silent(1)	ovary(1)	1											110	109	109					1																	111861300		2203	4300	6503	111662823	SO:0001630	splice_region_variant	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.915+1G>A	1.37:g.111861300G>A			111662823	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	CCDS41368.1																																																																																				0.517	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		Silent	A	111861300	G	A	111861300	5	1	210	1	0	0	0	0	0	0	1	0	3342	1014	35	2	945	2	CHIA	1	111861300	Splice_Site	SNP	G	TCGA-24-1103-01A-01W-0488-09	3548007	111861300	137389321	5	12092											
ATP1A1	476	genome.wustl.edu	37	1	116932964	116932964	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:116932964C>T	ENST00000295598.5	+	9	1405	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	ATP1A1_ENST00000369496.4_Missense_Mutation_p.R354W|ATP1A1_ENST00000537345.1_Missense_Mutation_p.R385W	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	385					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R385W(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GACTCAGAACCGGATGACAGT	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											83	74	77					1																	116932964		2203	4300	6503	116734487	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1153C>T	1.37:g.116932964C>T	ENSP00000295598:p.Arg385Trp		116734487	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730188	0.89390	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.96334	-3.98;-3.98;-3.98	4.87	4.87	0.63330	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98695	0.9562	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99675	1.0997	10	0.87932	D	0	.	18.2082	0.89861	0.0:1.0:0.0:0.0	.	385;385	F5H3A1;P05023	.;AT1A1_HUMAN	W	385;385;384;354	ENSP00000295598:R385W;ENSP00000445306:R385W;ENSP00000358508:R354W	ENSP00000295598:R385W	R	+	1	2	ATP1A1	116734487	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.790000	0.38734	2.558000	0.86282	0.650000	0.86243	CGG		0.493	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		T	116932964	C	T	116932964	3	4	210	1	0	0	0	0	1	0	0	0	1128	643	23	1	1203	1	ATP1A1	1	116932964	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	5071664	116932964	132317657	6	12093											
SPAG17	200162	genome.wustl.edu	37	1	118506476	118506476	+	Silent	SNP	T	T	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:118506476T>C	ENST00000336338.5	-	48	6683	c.6618A>G	c.(6616-6618)acA>acG	p.T2206T	WDR3_ENST00000349139.5_3'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2206						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.T2206T(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGGAATAAATTGTAGAAGTTC	0.348																																																1	Substitution - coding silent(1)	ovary(1)	1											116	120	119					1																	118506476		2203	4300	6503	118307999	SO:0001819	synonymous_variant	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6618A>G	1.37:g.118506476T>C			118307999	Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																				0.348	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		C	118506476	T	C	118506476	2	2	210	1	0	0	0	0	0	0	0	1	14982	1799	63	4		4	SPAG17	1	118506476	Silent	SNP	T	TCGA-24-1103-01A-01W-0488-09	1573512	118506476	130744145	7	12094											
NTRK1	4914	genome.wustl.edu	37	1	156837923	156837923	+	Silent	SNP	T	T	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:156837923T>C	ENST00000524377.1	+	5	497	c.456T>C	c.(454-456)tgT>tgC	p.C152C	NTRK1_ENST00000358660.3_Silent_p.C152C|NTRK1_ENST00000368196.3_Silent_p.C152C|NTRK1_ENST00000392302.2_Silent_p.C122C	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	152	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C152C(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTCTGCACTGTTCTTGTGCCC	0.637			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	1	Substitution - coding silent(1)	ovary(1)	1											65	71	69					1																	156837923		2203	4300	6503	155104547	SO:0001819	synonymous_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.456T>C	1.37:g.156837923T>C			155104547	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	CCDS1161.1																																																																																				0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		C	156837923	T	C	156837923	2	2	210	1	0	0	0	0	0	0	0	1	10706	1731	60	4		4	NTRK1	1	156837923	Silent	SNP	T	TCGA-24-1103-01A-01W-0488-09	38331447	156837923	92412698	8	12095											
GALNT2	2590	genome.wustl.edu	37	1	230386265	230386265	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:230386265A>T	ENST00000366672.4	+	10	1040	c.968A>T	c.(967-969)aAg>aTg	p.K323M	GALNT2_ENST00000543760.1_Missense_Mutation_p.K285M|GALNT2_ENST00000541865.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	323	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K323M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GAACTGGGGAAGTACGACATG	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											182	166	171					1																	230386265		2203	4300	6503	228452888	SO:0001583	missense	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.968A>T	1.37:g.230386265A>T	ENSP00000355632:p.Lys323Met		228452888	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279523	0.59758	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.58940	0.3;0.3	4.43	4.43	0.53597	.	0.136038	0.64402	D	0.000007	T	0.60392	0.2265	M	0.85099	2.735	0.80722	D	1	B;B	0.30686	0.29;0.12	B;B	0.24541	0.04;0.054	T	0.66424	-0.5927	10	0.59425	D	0.04	.	13.6391	0.62239	1.0:0.0:0.0:0.0	.	323;285	Q10471;G3V1S6	GALT2_HUMAN;.	M	285;323;204	ENSP00000445017:K285M;ENSP00000355632:K323M	ENSP00000355632:K323M	K	+	2	0	GALNT2	228452888	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.001000	0.76297	1.761000	0.52028	0.379000	0.24179	AAG		0.502	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		T	230386265	A	T	230386265	3	4	210	1	0	0	0	0	1	0	0	0	6213	72	3	5	1006	5	GALNT2	1	230386265	Missense_Mutation	SNP	A	TCGA-24-1103-01A-01W-0488-09	73548342	230386265	18864356	9	12096											
ADSS	159	genome.wustl.edu	37	1	244579368	244579368	+	Silent	SNP	G	G	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr1:244579368G>C	ENST00000366535.3	-	11	1399	c.1083C>G	c.(1081-1083)acC>acG	p.T361T	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.T361T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TATCCAACTTGGTAAGTGCCA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	1											75	68	70					1																	244579368		2203	4299	6502	242645991	SO:0001819	synonymous_variant	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1083C>G	1.37:g.244579368G>C			242645991		Silent	SNP	ENST00000366535.3	37	CCDS1624.1																																																																																				0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		C	244579368	G	C	244579368	2	2	210	1	0	0	0	0	0	0	0	1	347	1335	47	3		3	ADSS	1	244579368	Silent	SNP	G	TCGA-24-1103-01A-01W-0488-09	14193103	244579368	4671253	10	12097											
PRKD3	23683	genome.wustl.edu	37	2	37518122	37518122	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr2:37518122A>C	ENST00000379066.1	-	4	1210	c.448T>G	c.(448-450)Ttc>Gtc	p.F150V	PRKD3_ENST00000234179.2_Missense_Mutation_p.F150V			O94806	KPCD3_HUMAN	protein kinase D3	150					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.F150V(1)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CGAATCTGGAAGTCTTCTACT	0.383																																					Melanoma(80;621 1355 8613 11814 51767)											1	Substitution - Missense(1)	ovary(1)	2											148	144	145					2																	37518122		2203	4300	6503	37371626	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.448T>G	2.37:g.37518122A>C	ENSP00000368356:p.Phe150Val		37371626	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	A	9.805	1.181573	0.21787	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	D;D;D	0.83914	-1.78;-1.78;-1.78	4.83	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.73931	0.3650	L	0.37630	1.12	0.54753	D	0.999989	B;B	0.28026	0.198;0.024	B;B	0.29862	0.108;0.028	T	0.65129	-0.6243	10	0.20519	T	0.43	-15.5789	11.1514	0.48462	0.862:0.0:0.0:0.138	.	150;150	O94806-2;O94806	.;KPCD3_HUMAN	V	150;150;46	ENSP00000368356:F150V;ENSP00000234179:F150V;ENSP00000401839:F46V	ENSP00000234179:F150V	F	-	1	0	PRKD3	37371626	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	7.277000	0.78572	0.774000	0.33427	0.528000	0.53228	TTC		0.383	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		C	37518122	A	C	37518122	3	2	210	1	0	0	0	0	1	0	0	0	12523	72	3	5	2288	5	PRKD3	2	37518122	Missense_Mutation	SNP	A	TCGA-24-1103-01A-01W-0488-09		37518122	205681251	11	12098											
DPP10	57628	genome.wustl.edu	37	2	116447457	116447457	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr2:116447457T>A	ENST00000410059.1	+	7	1016	c.536T>A	c.(535-537)gTc>gAc	p.V179D	DPP10_ENST00000409163.1_Missense_Mutation_p.V129D|DPP10_ENST00000393147.2_Missense_Mutation_p.V183D|DPP10_ENST00000310323.8_Missense_Mutation_p.V172D|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	179						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.V172D(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAGGACTCCGTCTTGCAGTAC	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											84	91	89					2																	116447457		2203	4300	6503	116163927	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.536T>A	2.37:g.116447457T>A	ENSP00000386565:p.Val179Asp		116163927	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436658	0.43224	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.44	5.44	0.79542	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.225321	0.36778	N	0.002414	T	0.33235	0.0856	N	0.17872	0.535	0.58432	D	0.999996	B;D;P;P	0.61697	0.409;0.99;0.464;0.464	B;P;P;B	0.58780	0.243;0.845;0.456;0.356	T	0.05971	-1.0853	10	0.23302	T	0.38	-12.1613	13.2317	0.59947	0.0:0.0:0.0:1.0	.	172;183;175;179	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	D	179;129;175;183;172;129	ENSP00000386565:V179D;ENSP00000387038:V129D;ENSP00000376854:V175D;ENSP00000376855:V183D;ENSP00000309066:V172D	ENSP00000309066:V172D	V	+	2	0	DPP10	116163927	0.767000	0.28508	0.968000	0.41197	0.968000	0.65278	4.987000	0.63857	2.058000	0.61347	0.477000	0.44152	GTC		0.438	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116447457	T	A	116447457	3	1	210	1	0	0	0	0	1	0	0	0	4727	1667	58	5	733	5	DPP10	2	116447457	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09	78929335	116447457	126751916	12	12099											
HNRNPA3	220988	genome.wustl.edu	37	2	178082496	178082496	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr2:178082496G>T	ENST00000392524.2	+	8	1121	c.884G>T	c.(883-885)gGa>gTa	p.G295V	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.G273V|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G295V			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	295	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G295V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGTGGACCAGGATATGGAAAC	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											163	154	157					2																	178082496		2203	4297	6500	177790742	SO:0001583	missense	220988			AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"RNA binding motif (RRM) containing"	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.884G>T	2.37:g.178082496G>T	ENSP00000376309:p.Gly295Val		177790742	D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	g	15.22	2.769835	0.49680	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.91295	-2.82;-2.82;-2.82	4.42	4.42	0.53409	.	0.000000	0.40222	U	0.001144	D	0.90003	0.6879	M	0.86740	2.835	0.80722	D	1	P;P	0.43287	0.614;0.802	B;B	0.37550	0.253;0.253	D	0.88920	0.3365	10	0.19590	T	0.45	.	14.0005	0.64431	0.0:0.1526:0.8474:0.0	.	273;295	B4DDB6;P51991	.;ROA3_HUMAN	V	295;273;239;240;295	ENSP00000376309:G295V;ENSP00000408487:G273V;ENSP00000416340:G295V	ENSP00000376309:G295V	G	+	2	0	HNRNPA3	177790742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.782000	0.85680	2.215000	0.71742	0.472000	0.43445	GGA		0.438	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		T	178082496	G	T	178082496	3	4	210	1	0	0	0	0	1	0	0	0	7260	1174	41	3	914	3	HNRNPA3	2	178082496	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	61635039	178082496	65116877	13	12100											
ANKAR	150709	genome.wustl.edu	37	2	190602523	190602523	+	Missense_Mutation	SNP	C	C	G	rs368191509		TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr2:190602523C>G	ENST00000520309.1	+	18	3626	c.3538C>G	c.(3538-3540)Ctt>Gtt	p.L1180V	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.L1109V|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.L1180V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1180						integral component of membrane (GO:0016021)		p.L1109V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGAACGTTTTCTTGAATCAAC	0.308																																																1	Substitution - Missense(1)	ovary(1)	2						C	VAL/LEU	0,4406		0,0,2203	68	66	67		3538	4.2	1	2		67	1,8593	1.2+/-3.3	0,1,4296	no	missense	ANKAR	NM_144708.3	32	0,1,6499	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	1180/1435	190602523	1,12999	2203	4297	6500	190310768	SO:0001583	missense	150709			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3538C>G	2.37:g.190602523C>G	ENSP00000427882:p.Leu1180Val		190310768	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120117	0.37436	0.0	1.16E-4	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.61158	0.13;0.13;0.13	6.01	4.22	0.49857	.	0.221269	0.29838	N	0.011061	T	0.74382	0.3709	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75164	-0.3414	10	0.52906	T	0.07	-18.733	11.8715	0.52523	0.0:0.8569:0.0:0.1431	.	256	E9PHS9	.	V	1180;1180;1109;256	ENSP00000427882:L1180V;ENSP00000313513:L1180V;ENSP00000393043:L1109V	ENSP00000313513:L1180V	L	+	1	0	ANKAR	190310768	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	1.820000	0.39032	0.885000	0.36088	-0.145000	0.13849	CTT		0.308	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		G	190602523	C	G	190602523	3	3	210	1	0	0	0	0	1	0	0	0	623	913	32	3	3604	3	ANKAR	2	190602523	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	12520027	190602523	52596850	14	12101											
MAP2	4133	genome.wustl.edu	37	2	210517973	210517973	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr2:210517973C>G	ENST00000360351.4	+	4	585	c.79C>G	c.(79-81)Cat>Gat	p.H27D	MAP2_ENST00000447185.1_Missense_Mutation_p.H27D|MAP2_ENST00000199940.6_Missense_Mutation_p.H27D|MAP2_ENST00000361559.4_Missense_Mutation_p.H27D|MAP2_ENST00000392194.1_Missense_Mutation_p.H27D	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	27					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.H27D(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGCACACTCACATCCACCTGA	0.512																																					Pancreas(27;423 979 28787 29963)											1	Substitution - Missense(1)	ovary(1)	2											105	76	86					2																	210517973		2203	4300	6503	210226218	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.79C>G	2.37:g.210517973C>G	ENSP00000353508:p.His27Asp		210226218	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688683	0.68271	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000009	T	0.30916	0.0780	L	0.27053	0.805	0.49582	D	0.999807	P;D;D;P;P;P	0.61080	0.604;0.989;0.972;0.932;0.611;0.801	B;D;P;P;B;B	0.75020	0.392;0.985;0.615;0.84;0.219;0.258	T	0.01889	-1.1253	10	0.06891	T	0.86	-11.3105	18.5411	0.91029	0.0:1.0:0.0:0.0	.	27;27;28;27;27;27	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	D	27	ENSP00000199940:H27D;ENSP00000376031:H27D;ENSP00000353508:H27D;ENSP00000355290:H27D;ENSP00000409969:H27D;ENSP00000376032:H27D;ENSP00000392164:H27D	ENSP00000199940:H27D	H	+	1	0	MAP2	210226218	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.741000	0.55090	2.621000	0.88768	0.655000	0.94253	CAT		0.512	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		G	210517973	C	G	210517973	3	3	210	1	0	0	0	0	1	0	0	0	9235	478	17	3	81	3	MAP2	2	210517973	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	19915450	210517973	32681400	15	12102											
XIRP1	165904	genome.wustl.edu	37	3	39227071	39227071	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	A	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr3:39227071T>A	ENST00000340369.3	-	2	4094	c.3866A>T	c.(3865-3867)gAc>gTc	p.D1289V	XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1289	Pro-rich.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.D1289V(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAGAAGGGGGTCCTTCAGGGG	0.612																																																1	Substitution - Missense(1)	ovary(1)	3											46	56	53					3																	39227071		2192	4294	6486	39202075	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3866A>T	3.37:g.39227071T>A	ENSP00000343140:p.Asp1289Val		39202075	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	T	2.844	-0.239918	0.05944	.	.	ENSG00000168334	ENST00000340369	T	0.03635	3.86	3.87	-0.109	0.13584	.	0.209202	0.29892	U	0.010934	T	0.02929	0.0087	L	0.51422	1.61	0.09310	N	0.999998	B	0.26002	0.139	B	0.19666	0.026	T	0.40079	-0.9582	10	0.33940	T	0.23	.	1.0316	0.01539	0.1901:0.1086:0.1971:0.5042	.	1289	Q702N8	XIRP1_HUMAN	V	1289	ENSP00000343140:D1289V	ENSP00000343140:D1289V	D	-	2	0	XIRP1	39202075	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.272000	0.18644	-0.015000	0.14150	0.533000	0.62120	GAC		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39227071	T	A	39227071	3	1	210	1	0	0	0	0	1	0	0	0	17429	1667	58	5	1669	5	XIRP1	3	39227071	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09		39227071	158795359	16	12103											
ZNF197	10168	genome.wustl.edu	37	3	44684347	44684347	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr3:44684347C>A	ENST00000396058.1	+	5	1892	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.F575L|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	575					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.F575L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAAAAGTTTTCATTCGAAGCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											58	60	60					3																	44684347		2203	4300	6503	44659351	SO:0001583	missense	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1725C>A	3.37:g.44684347C>A	ENSP00000379370:p.Phe575Leu		44659351	B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588990	0.46110	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.46063	0.88;0.88	3.57	2.7	0.31948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36555	U	0.002535	T	0.67126	0.2860	M	0.92555	3.32	0.31059	N	0.714318	D	0.67145	0.996	D	0.77557	0.99	T	0.70475	-0.4861	10	0.87932	D	0	.	7.858	0.29493	0.0:0.7911:0.0:0.2089	.	575	O14709	ZN197_HUMAN	L	575	ENSP00000345809:F575L;ENSP00000379370:F575L	ENSP00000345809:F575L	F	+	3	2	ZNF197	44659351	0.002000	0.14202	1.000000	0.80357	0.889000	0.51656	0.078000	0.14761	1.086000	0.41228	-0.269000	0.10298	TTC		0.398	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		A	44684347	C	A	44684347	3	1	210	1	0	0	0	0	1	0	0	0	17759	825	29	3	1743	3	ZNF197	3	44684347	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	5457276	44684347	153338083	17	12104											
BSN	8927	genome.wustl.edu	37	3	49689686	49689686	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr3:49689686C>A	ENST00000296452.4	+	5	2811	c.2697C>A	c.(2695-2697)caC>caA	p.H899Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	899					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.H899Q(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCTGCCCCACAATGCCACCA	0.657																																																1	Substitution - Missense(1)	ovary(1)	3											23	25	24					3																	49689686		2203	4300	6503	49664690	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2697C>A	3.37:g.49689686C>A	ENSP00000296452:p.His899Gln		49664690	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.345	0.829579	0.16749	.	.	ENSG00000164061	ENST00000296452	T	0.18502	2.21	4.81	1.96	0.26148	.	0.235221	0.42294	D	0.000736	T	0.27278	0.0669	L	0.45581	1.43	0.27053	N	0.963744	D	0.76494	0.999	D	0.66196	0.942	T	0.06552	-1.0820	10	0.33940	T	0.23	.	8.8394	0.35133	0.0:0.667:0.0:0.333	.	899	Q9UPA5	BSN_HUMAN	Q	899	ENSP00000296452:H899Q	ENSP00000296452:H899Q	H	+	3	2	BSN	49664690	0.935000	0.31712	0.999000	0.59377	0.995000	0.86356	0.120000	0.15647	0.085000	0.17107	0.561000	0.74099	CAC		0.657	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49689686	C	A	49689686	3	1	210	1	0	0	0	0	1	0	0	0	1530	477	17	3	2715	3	BSN	3	49689686	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	5005339	49689686	148332744	18	12105											
DRD3	1814	genome.wustl.edu	37	3	113890742	113890742	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr3:113890742G>T	ENST00000460779.1	-	3	387	c.98C>A	c.(97-99)gCc>gAc	p.A33D	DRD3_ENST00000467632.1_Missense_Mutation_p.A33D|DRD3_ENST00000295881.7_Missense_Mutation_p.A33D|DRD3_ENST00000383673.2_Missense_Mutation_p.A33D	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	33					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.A33D(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTAGGAGAGGGCATAGTAGGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	3											55	49	51					3																	113890742		2203	4300	6503	115373432	SO:0001583	missense	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.98C>A	3.37:g.113890742G>T	ENSP00000419402:p.Ala33Asp		115373432	A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160755	0.94727	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.981	D;D;D;P	0.87578	0.998;0.998;0.998;0.704	T	0.58792	-0.7574	10	0.87932	D	0	.	18.4938	0.90856	0.0:0.0:1.0:0.0	.	33;33;33;33	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	D	33	ENSP00000419402:A33D;ENSP00000420662:A33D;ENSP00000373169:A33D;ENSP00000295881:A33D	ENSP00000281274:A33D	A	-	2	0	DRD3	115373432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.597000	0.98273	2.603000	0.88011	0.655000	0.94253	GCC		0.617	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		T	113890742	G	T	113890742	3	4	210	1	0	0	0	0	1	0	0	0	4758	1203	42	3	1128	3	DRD3	3	113890742	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	64201056	113890742	84131688	19	12106											
DZIP1L	199221	genome.wustl.edu	37	3	137822448	137822448	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr3:137822448C>G	ENST00000327532.2	-	2	728	c.366G>C	c.(364-366)caG>caC	p.Q122H	DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q122H	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	122					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.Q122H(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GACCACGCTGCTGCTGGCCCA	0.657																																																1	Substitution - Missense(1)	ovary(1)	3											21	18	19					3																	137822448		2202	4298	6500	139305138	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.366G>C	3.37:g.137822448C>G	ENSP00000332148:p.Gln122His		139305138	C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	6.255	0.415183	0.11870	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.42131	1.1;0.98	5.19	1.01	0.19927	.	0.320133	0.26489	N	0.024084	T	0.20820	0.0501	N	0.22421	0.69	0.09310	N	1	B;B	0.27192	0.054;0.171	B;B	0.29785	0.065;0.107	T	0.10636	-1.0621	10	0.15499	T	0.54	-21.1265	1.7533	0.02976	0.1291:0.3938:0.252:0.2252	.	122;122	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	H	122	ENSP00000332148:Q122H;ENSP00000419486:Q122H	ENSP00000332148:Q122H	Q	-	3	2	DZIP1L	139305138	0.998000	0.40836	0.620000	0.29132	0.882000	0.50991	0.753000	0.26376	0.175000	0.19841	0.655000	0.94253	CAG		0.657	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		G	137822448	C	G	137822448	3	3	210	1	0	0	0	0	1	0	0	0	4864	796	28	3	2006	3	DZIP1L	3	137822448	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	23931706	137822448	60199982	20	12107											
ZBTB38	253461	genome.wustl.edu	37	3	141164553	141164553	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr3:141164553C>A	ENST00000514251.1	+	4	3602	c.3323C>A	c.(3322-3324)aCc>aAc	p.T1108N	ZBTB38_ENST00000321464.5_Missense_Mutation_p.T1109N|ZBTB38_ENST00000441582.2_Missense_Mutation_p.T1108N					zinc finger and BTB domain containing 38									p.T1108N(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TATCTCTCCACCAAAAGGAAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											88	83	85					3																	141164553		1908	4133	6041	142647243	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3323C>A	3.37:g.141164553C>A	ENSP00000426387:p.Thr1108Asn		142647243		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565998	0.65651	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09163	3.01;3.01;3.02	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.28649	0.875	0.40009	D	0.975264	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.01021	-1.1478	9	.	.	.	-27.2877	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1109;1108	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	N	1108;1108;1109	ENSP00000426387:T1108N;ENSP00000406955:T1108N;ENSP00000372635:T1109N	.	T	+	2	0	ZBTB38	142647243	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	5.951000	0.70273	2.746000	0.94184	0.655000	0.94253	ACC		0.458	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			A	141164553	C	A	141164553	3	1	210	1	0	0	0	0	1	0	0	0	17539	507	18	3	3325	3	ZBTB38	3	141164553	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	3342105	141164553	56857877	21	12108											
RASA2	5922	genome.wustl.edu	37	3	141231095	141231095	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr3:141231095G>A	ENST00000452898.1	+	2	259	c.224G>A	c.(223-225)cGt>cAt	p.R75H	RASA2_ENST00000286364.3_Missense_Mutation_p.R75H	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	75	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.R75H(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GAAGTTTATCGTACCCAAGTT	0.308																																																1	Substitution - Missense(1)	ovary(1)	3											69	72	71					3																	141231095		2203	4298	6501	142713785	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.224G>A	3.37:g.141231095G>A	ENSP00000391677:p.Arg75His		142713785	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37		.	.	.	.	.	.	.	.	.	.	G	28.1	4.894393	0.91889	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.73469	-0.75;-0.75	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	M	0.92923	3.36	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92012	0.5619	10	0.87932	D	0	.	17.8765	0.88826	0.0:0.0:1.0:0.0	.	75;75;75	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	H	75	ENSP00000286364:R75H;ENSP00000391677:R75H	ENSP00000286364:R75H	R	+	2	0	RASA2	142713785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.184000	0.89702	2.513000	0.84729	0.655000	0.94253	CGT		0.308	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		A	141231095	G	A	141231095	3	1	210	1	0	0	0	0	1	0	0	0	13064	1145	40	1	230	1	RASA2	3	141231095	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	66542	141231095	56791335	22	12109											
EXOC1	55763	genome.wustl.edu	37	4	56763055	56763055	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr4:56763055T>G	ENST00000381295.2	+	16	2474	c.2126T>G	c.(2125-2127)gTa>gGa	p.V709G	EXOC1_ENST00000349598.6_Missense_Mutation_p.V694G|EXOC1_ENST00000346134.7_Missense_Mutation_p.V709G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	709					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V709G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ATCAGAGGAGTATTTGTTAAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											68	70	69					4																	56763055		2203	4300	6503	56457812	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2126T>G	4.37:g.56763055T>G	ENSP00000370695:p.Val709Gly		56457812	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314817	0.81358	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.68952	2.095	0.80722	D	1	D;D	0.63880	0.993;0.993	P;D	0.72982	0.865;0.979	T	0.80044	-0.1547	9	0.87932	D	0	.	16.3756	0.83387	0.0:0.0:0.0:1.0	.	694;709	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	G	709;709;694	.	ENSP00000326514:V709G	V	+	2	0	EXOC1	56457812	1.000000	0.71417	0.960000	0.40013	0.973000	0.67179	7.698000	0.84413	2.270000	0.75569	0.460000	0.39030	GTA		0.348	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		G	56763055	T	G	56763055	3	3	210	1	0	0	0	0	1	0	0	0	5301	1638	57	5	2184	5	EXOC1	4	56763055	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09		56763055	134391221	23	12110											
AASDH	132949	genome.wustl.edu	37	4	57215995	57215995	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr4:57215995C>A	ENST00000205214.6	-	11	2102	c.1922G>T	c.(1921-1923)aGt>aTt	p.S641I	AASDH_ENST00000513376.1_Missense_Mutation_p.S541I|AASDH_ENST00000451613.1_Missense_Mutation_p.S641I|AASDH_ENST00000602986.1_Missense_Mutation_p.S488I|AASDH_ENST00000434343.2_Missense_Mutation_p.S156I|AASDH_ENST00000502617.1_Missense_Mutation_p.S641I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	641					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.S641I(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TGTGGCACAACTCTTCCTGAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											193	166	175					4																	57215995		2203	4300	6503	56910752	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1922G>T	4.37:g.57215995C>A	ENSP00000205214:p.Ser641Ile		56910752	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662177	0.29515	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	6.06	2.19	0.27852	.	0.805159	0.12194	N	0.490902	T	0.07863	0.0197	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.23806	0.091;0.009;0.02;0.002	B;B;B;B	0.21546	0.026;0.014;0.035;0.001	T	0.38329	-0.9666	10	0.36615	T	0.2	-2.6864	2.1684	0.03843	0.1299:0.4515:0.1278:0.2909	.	488;641;641;641	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	I	641;541;156;641;488;641	ENSP00000205214:S641I;ENSP00000423760:S541I;ENSP00000392158:S156I;ENSP00000409656:S641I;ENSP00000421171:S641I	ENSP00000205214:S641I	S	-	2	0	AASDH	56910752	0.000000	0.05858	0.006000	0.13384	0.836000	0.47400	0.119000	0.15626	0.081000	0.16988	0.655000	0.94253	AGT		0.408	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		A	57215995	C	A	57215995	3	1	210	1	0	0	0	0	1	0	0	0	22	565	20	3	1394	3	AASDH	4	57215995	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	452940	57215995	133938281	24	12111											
POLR2B	5431	genome.wustl.edu	37	4	57865797	57865797	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr4:57865797T>A	ENST00000381227.1	+	8	1163	c.750T>A	c.(748-750)agT>agA	p.S250R	POLR2B_ENST00000431623.2_Missense_Mutation_p.S175R|POLR2B_ENST00000441246.2_Missense_Mutation_p.S243R|POLR2B_ENST00000314595.5_Missense_Mutation_p.S250R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	250					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.S250R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CCAAGAAGAGTGCTATTGGTC	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											112	102	106					4																	57865797		2203	4300	6503	57560554	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.750T>A	4.37:g.57865797T>A	ENSP00000370625:p.Ser250Arg		57560554	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850879	0.32699	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.66	2.92	0.33932	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	L	0.56769	1.78	0.80722	D	1	B;B	0.27765	0.083;0.188	B;B	0.36186	0.219;0.219	T	0.54309	-0.8313	10	0.27785	T	0.31	.	10.8005	0.46485	0.0:0.1497:0.0:0.8503	.	175;250	C9J4M6;P30876	.;RPB2_HUMAN	R	250;175;243;250	ENSP00000370625:S250R;ENSP00000391096:S175R;ENSP00000391452:S243R;ENSP00000312735:S250R	ENSP00000312735:S250R	S	+	3	2	POLR2B	57560554	0.997000	0.39634	1.000000	0.80357	0.753000	0.42808	0.387000	0.20718	0.980000	0.38523	-0.388000	0.06559	AGT		0.348	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		A	57865797	T	A	57865797	3	1	210	1	0	0	0	0	1	0	0	0	12215	1693	59	5	776	5	POLR2B	4	57865797	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09	649802	57865797	133288479	25	12112											
FAT1	2195	genome.wustl.edu	37	4	187630513	187630513	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr4:187630513A>G	ENST00000441802.2	-	2	678	c.469T>C	c.(469-471)Tct>Cct	p.S157P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	157	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S157P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGGTAAAGAAACGCTGTAT	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											1	Substitution - Missense(1)	ovary(1)	4											184	191	189					4																	187630513		2162	4272	6434	187867507	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.469T>C	4.37:g.187630513A>G	ENSP00000406229:p.Ser157Pro		187867507		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660715	0.67586	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.56444	0.46;0.46	5.1	5.1	0.69264	Cadherin (3);Cadherin-like (1);	0.051794	0.85682	D	0.000000	T	0.73505	0.3595	M	0.85041	2.73	0.58432	D	0.999999	D	0.61697	0.99	D	0.65773	0.938	T	0.77928	-0.2404	10	0.56958	D	0.05	.	14.6965	0.69126	1.0:0.0:0.0:0.0	.	157	Q14517	FAT1_HUMAN	P	157	ENSP00000406229:S157P;ENSP00000423736:S157P	ENSP00000260147:S157P	S	-	1	0	FAT1	187867507	1.000000	0.71417	0.257000	0.24404	0.984000	0.73092	4.919000	0.63383	2.146000	0.66826	0.482000	0.46254	TCT		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187630513	A	G	187630513	3	3	210	1	0	0	0	0	1	0	0	0	5689	246	9	4	13401	4	FAT1	4	187630513	Missense_Mutation	SNP	A	TCGA-24-1103-01A-01W-0488-09	129764716	187630513	3523763	26	12113											
PRLR	5618	genome.wustl.edu	37	5	35084596	35084596	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr5:35084596G>T	ENST00000382002.5	-	5	775	c.349C>A	c.(349-351)Ctt>Att	p.L117I	PRLR_ENST00000231423.3_Missense_Mutation_p.L117I|PRLR_ENST00000348262.3_Missense_Mutation_p.L117I|PRLR_ENST00000542609.1_Missense_Mutation_p.L117I|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000397391.3_Missense_Mutation_p.L46I|PRLR_ENST00000310101.5_Missense_Mutation_p.L117I|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.L117I	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	117	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.L117I(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TCCACATAAAGTTCATCCGAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	5											233	217	222					5																	35084596		2203	4300	6503	35120353	SO:0001583	missense	5618				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.349C>A	5.37:g.35084596G>T	ENSP00000371432:p.Leu117Ile		35120353	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372885	0.05034	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206	D;D;D;T;D;D;D;D	0.84660	-1.88;-1.88;-1.88;1.59;-1.88;-1.88;-1.88;-1.88	5.68	1.95	0.26073	Fibronectin, type III (2);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	1.121610	0.06390	N	0.716852	T	0.73118	0.3546	N	0.25957	0.775	0.09310	N	1	B;B;B;B;B;B	0.12630	0.0;0.0;0.006;0.001;0.0;0.001	B;B;B;B;B;B	0.19666	0.003;0.008;0.026;0.01;0.006;0.007	T	0.55560	-0.8122	10	0.23302	T	0.38	0.3436	1.0342	0.01544	0.2994:0.1483:0.3992:0.1531	.	117;117;46;117;117;117	P16471-3;P16471;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.	I	117;117;117;46;117;117;117;117	ENSP00000231423:L117I;ENSP00000424841:L117I;ENSP00000311613:L117I;ENSP00000380546:L46I;ENSP00000441813:L117I;ENSP00000371432:L117I;ENSP00000309008:L117I;ENSP00000423493:L117I	ENSP00000231423:L117I	L	-	1	0	PRLR	35120353	0.005000	0.15991	0.001000	0.08648	0.002000	0.02628	0.163000	0.16520	0.351000	0.24027	-0.152000	0.13540	CTT		0.453	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			T	35084596	G	T	35084596	3	4	210	1	0	0	0	0	1	0	0	0	12534	1029	36	3	1543	3	PRLR	5	35084596	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09		35084596	145830664	27	12114											
PCDHGA1	26025	genome.wustl.edu	37	5	140890625	140890625	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr5:140890625T>G	ENST00000252085.3	+	4	2826	c.2684T>G	c.(2683-2685)gTc>gGc	p.V895G	PCDHGA7_ENST00000518325.1_Missense_Mutation_p.V895G|PCDHGA2_ENST00000394576.2_Missense_Mutation_p.V895G|PCDHGB1_ENST00000523390.1_Missense_Mutation_p.V890G|PCDHGB2_ENST00000522605.1_Missense_Mutation_p.V894G|PCDHGA1_ENST00000517417.1_Missense_Mutation_p.V894G|PCDHGA4_ENST00000571252.1_Missense_Mutation_p.V894G|PCDHGA5_ENST00000518069.1_Missense_Mutation_p.V894G|PCDHGA6_ENST00000517434.1_Missense_Mutation_p.V895G|PCDHGA8_ENST00000398604.2_Missense_Mutation_p.V895G|PCDHGB7_ENST00000398594.2_Missense_Mutation_p.V892G|PCDHGC4_ENST00000306593.1_Missense_Mutation_p.V901G|PCDHGC3_ENST00000308177.3_Missense_Mutation_p.V897G|PCDHGC5_ENST00000252087.1_Missense_Mutation_p.V907G|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V713G|PCDHGA10_ENST00000398610.2_Missense_Mutation_p.V899G|PCDHGA3_ENST00000253812.6_Missense_Mutation_p.V895G|PCDHGA9_ENST00000573521.1_Missense_Mutation_p.V895G|PCDHGB6_ENST00000520790.1_Missense_Mutation_p.V893G|PCDHGB4_ENST00000519479.1_Missense_Mutation_p.V886G|PCDHGA11_ENST00000398587.2_Missense_Mutation_p.V898G|PCDHGB3_ENST00000576222.1_Missense_Mutation_p.V892G	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	895					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V897G(2)|p.V907G(2)|p.V895G(2)|p.V901G(1)|p.V892G(1)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAGAATGTCTACATCCCA	0.642																																																8	Substitution - Missense(8)	ovary(8)	5											93	91	91					5																	140890625		2203	4300	6503	140870809	SO:0001583	missense	56097			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2684T>G	5.37:g.140890625T>G	ENSP00000252085:p.Val895Gly		140870809	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222860	0.79464	.	.	ENSG00000204956;ENSG00000081853;ENSG00000254245;ENSG00000254221;ENSG00000253910;ENSG00000253485;ENSG00000253731;ENSG00000253537;ENSG00000253953;ENSG00000253767;ENSG00000253305;ENSG00000253846;ENSG00000254122;ENSG00000253873;ENSG00000253873;ENSG00000253159;ENSG00000240184;ENSG00000242419;ENSG00000240764	ENST00000517417;ENST00000394576;ENST00000253812;ENST00000523390;ENST00000522605;ENST00000518069;ENST00000517434;ENST00000518325;ENST00000519479;ENST00000398604;ENST00000520790;ENST00000398610;ENST00000398594;ENST00000398587;ENST00000518882;ENST00000252085;ENST00000308177;ENST00000306593;ENST00000252087	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65916	0.4;0.34;0.43;0.29;0.29;0.37;0.53;0.33;0.26;0.35;0.3;0.35;0.28;0.45;-0.18;0.37;0.34;0.22;0.35	4.9	4.9	0.64082	.	0.000000	0.42821	D	0.000659	T	0.73353	0.3576	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.999;0.993;1.0;0.981;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.986;1.0;1.0;0.751	D;D;D;D;D;D;D;D;D;P;D;P;D;D;D;D;D;D;D;D;P;D;D;P	0.97110	0.98;0.984;0.998;0.973;0.986;0.994;0.993;0.984;0.98;0.738;0.996;0.599;0.999;0.984;0.999;0.999;0.984;0.999;0.984;0.999;0.738;0.992;1.0;0.488	T	0.76479	-0.2944	10	0.87932	D	0	.	14.6811	0.69017	0.0:0.0:0.0:1.0	.	907;901;97;897;895;898;713;892;899;893;895;886;895;886;895;895;892;894;894;894;890;895;895;894	Q9Y5F6;Q9Y5F7;Q9BR81;Q9UN70;O60330;Q9Y5H2;Q9Y5H2-3;Q9Y5F8;Q9Y5H3;Q9Y5F9;Q9Y5G4;Q9Y5G0;Q9Y5G5;Q9UN71;Q9Y5G6;Q9Y5G7;Q9Y5G1;Q9Y5G8;Q9Y5G2;Q9Y5G9;Q9Y5G3;Q9Y5H0;Q9Y5H1;Q9Y5H4	PCDGM_HUMAN;PCDGL_HUMAN;.;PCDGK_HUMAN;PCDGC_HUMAN;PCDGB_HUMAN;.;PCDGJ_HUMAN;PCDGA_HUMAN;PCDGI_HUMAN;PCDG9_HUMAN;PCDGH_HUMAN;PCDG8_HUMAN;PCDGG_HUMAN;PCDG7_HUMAN;PCDG6_HUMAN;PCDGF_HUMAN;PCDG5_HUMAN;PCDGE_HUMAN;PCDG4_HUMAN;PCDGD_HUMAN;PCDG3_HUMAN;PCDG2_HUMAN;PCDG1_HUMAN	G	894;895;895;890;894;894;895;895;886;895;893;899;892;898;713;895;897;901;907	ENSP00000431083:V894G;ENSP00000378077:V895G;ENSP00000253812:V895G;ENSP00000429273:V890G;ENSP00000429018:V894G;ENSP00000429834:V894G;ENSP00000429601:V895G;ENSP00000430024:V895G;ENSP00000428288:V886G;ENSP00000381605:V895G;ENSP00000428603:V893G;ENSP00000381611:V899G;ENSP00000381594:V892G;ENSP00000381589:V898G;ENSP00000428333:V713G;ENSP00000252085:V895G;ENSP00000312070:V897G;ENSP00000306918:V901G;ENSP00000252087:V907G	ENSP00000381611:V899G	V	+	2	0	PCDHGA12;PCDHGA10;PCDHGA11;PCDHGB7;PCDHGA8;PCDHGC5;PCDHGA7;PCDHGB6;PCDHGC4;PCDHGA6;PCDHGC3;PCDHGA5;PCDHGA3;PCDHGB2;PCDHGA2;PCDHGA1;PCDHGB4;PCDHGB1	140870809	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.441000	0.80485	2.054000	0.61138	0.418000	0.28097	GTC		0.642	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		G	140890625	T	G	140890625	3	3	210	1	0	0	0	0	1	0	0	0	11550	1667	58	5	2745	5	PCDHGA1	5	140890625	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09	105806029	140890625	40024635	28	12115											
ITK	3702	genome.wustl.edu	37	5	156635998	156635998	+	Silent	SNP	G	G	A	rs201403794	byFrequency	TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr5:156635998G>A	ENST00000422843.3	+	2	389	c.237G>A	c.(235-237)ccG>ccA	p.P79P	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	79	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P79P(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	ATAAATACCCGTTTCAGGTAA	0.488			T	SYK	peripheral T-cell lymphoma								G|||	2	0.000399361	0	0	5008	,	,		19090	0		0.001	False		,,,				2504	0.001				Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - coding silent(1)	ovary(1)	5						G		0,4406		0,0,2203	112	96	101		237	-10.6	0.9	5		101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ITK	NM_005546.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		79/621	156635998	2,13004	2203	4300	6503	156568576	SO:0001819	synonymous_variant	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.237G>A	5.37:g.156635998G>A			156568576	B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	CCDS4336.1																																																																																				0.488	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			A	156635998	G	A	156635998	2	1	210	1	0	0	0	0	0	0	0	1	7909	1132	40	1		1	ITK	5	156635998	Silent	SNP	G	TCGA-24-1103-01A-01W-0488-09	15745373	156635998	24279262	29	12116											
DCBLD1	285761	genome.wustl.edu	37	6	117853527	117853527	+	Silent	SNP	G	G	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr6:117853527G>T	ENST00000338728.5	+	6	810	c.690G>T	c.(688-690)ggG>ggT	p.G230G	DCBLD1_ENST00000368503.4_Silent_p.G230G|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.G230G			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	230	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G230G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		GATATGAAGGGATTCTGGCCA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	6											236	193	208					6																	117853527		2203	4300	6503	117960220	SO:0001819	synonymous_variant	285761			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.690G>T	6.37:g.117853527G>T			117960220	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37																																																																																					0.433	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		T	117853527	G	T	117853527	2	4	210	1	0	0	0	0	0	0	0	1	4280	1161	41	3		3	DCBLD1	6	117853527	Silent	SNP	G	TCGA-24-1103-01A-01W-0488-09		117853527	53261540	30	12117											
MLLT4	4301	genome.wustl.edu	37	6	168352358	168352358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr6:168352358A>T	ENST00000447894.2	+	29	4303	c.4303A>T	c.(4303-4305)Aga>Tga	p.R1435*	MLLT4_ENST00000392112.1_Nonsense_Mutation_p.R1418*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.R1442*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.R1434*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.R1435*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.R1435*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.R1435*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1435					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1419*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGGAAGCGGAGAGAGCAGGA	0.577			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	1	Substitution - Nonsense(1)	ovary(1)	6											114	102	106					6																	168352358		2203	4300	6503	168095207	SO:0001587	stop_gained	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4303A>T	6.37:g.168352358A>T	ENSP00000404595:p.Arg1435*		168095207	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	A	40	7.991058	0.98599	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.	.	.	5.39	-4.33	0.03677	.	0.061991	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5143	22.3932	0.99971	0.1974:0.8026:0.0:0.0	.	.	.	.	X	1435;1442;1435;1435;1418;1435;1434;1435	.	ENSP00000345834:R1435X	R	+	1	2	MLLT4	168095207	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	0.004000	0.13106	-1.374000	0.02131	-0.488000	0.04728	AGA		0.577	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		T	168352358	A	T	168352358	4	4	210	1	0	0	0	0	0	1	0	0	9629	296	11	5	4417	5	MLLT4	6	168352358	Nonsense_Mutation	SNP	A	TCGA-24-1103-01A-01W-0488-09	50498831	168352358	2762709	31	12118											
THBS2	7058	genome.wustl.edu	37	6	169622375	169622376	+	Frame_Shift_Ins	INS	-	-	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr6:169622375_169622376insC	ENST00000366787.3	-	20	3438_3439	c.3189_3190insG	c.(3187-3192)gtgtccfs	p.S1064fs	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1064	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S1064fs*48(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACCTTGAGGGACACGCCGGAGT	0.649																																					Esophageal Squamous(91;219 1934 18562 44706)											1	Insertion - Frameshift(1)	ovary(1)	6																																								169364301	SO:0001589	frameshift_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3190dupG	6.37:g.169622376_169622376dupC	ENSP00000355751:p.Ser1064fs		169364300	A6H8N1|A7E232|Q5RI52	Frame_Shift_Ins	INS	ENST00000366787.3	37	CCDS34574.1																																																																																				0.649	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		C	169622376	-	C	169622375	7	5	210	1	0	1	1	0	0	0	0	0	15854	275	10	0	344	0	THBS2	6	169622375	Frame_Shift_Ins	INS	-	TCGA-24-1103-01A-01W-0488-09	1270017	169622375	1492692	32	12119											
RBAK	57786	genome.wustl.edu	37	7	5103786	5103786	+	Silent	SNP	T	T	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr7:5103786T>C	ENST00000353796.3	+	6	1023	c.699T>C	c.(697-699)taT>taC	p.Y233Y	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Silent_p.Y233Y	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	233	Required for interaction with RB1.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Y233Y(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAAGCCCTATGAGTGGAATG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	7											46	48	48					7																	5103786		2203	4300	6503	5070312	SO:0001819	synonymous_variant	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.699T>C	7.37:g.5103786T>C			5070312	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	CCDS5337.1																																																																																				0.383	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		C	5103786	T	C	5103786	2	2	210	1	0	0	0	0	0	0	0	1	13103	1471	51	4		4	RBAK	7	5103786	Silent	SNP	T	TCGA-24-1103-01A-01W-0488-09		5103786	154034877	33	12120											
HNRNPA2B1	3181	genome.wustl.edu	37	7	26233226	26233226	+	Silent	SNP	G	G	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr7:26233226G>C	ENST00000354667.4	-	9	1014	c.846C>G	c.(844-846)ggC>ggG	p.G282G	HNRNPA2B1_ENST00000476233.1_5'Flank|HNRNPA2B1_ENST00000356674.7_Silent_p.G270G	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	282	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.G270G(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CACCTCCGTAGCCCCCACCCT	0.448			T	ETV1	prostate																																		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	1	Substitution - coding silent(1)	ovary(1)	7											117	113	115					7																	26233226		2203	4300	6503	26199751	SO:0001819	synonymous_variant	3181			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.846C>G	7.37:g.26233226G>C			26199751	A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	G	1.634	-0.518198	0.04171	.	.	ENSG00000122566	ENST00000409814	.	.	.	6.07	5.2	0.72013	.	.	.	.	.	T	0.69717	0.3142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68842	-0.5302	4	.	.	.	.	13.3415	0.60547	0.0731:0.0:0.9269:0.0	.	.	.	.	G	216	.	.	A	-	2	0	HNRNPA2B1	26199751	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	1.904000	0.39868	1.587000	0.49959	-0.136000	0.14681	GCT		0.448	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		C	26233226	G	C	26233226	2	2	210	1	0	0	0	0	0	0	0	1	7259	958	34	3		3	HNRNPA2B1	7	26233226	Silent	SNP	G	TCGA-24-1103-01A-01W-0488-09	21129440	26233226	132905437	34	12121											
DDC	1644	genome.wustl.edu	37	7	50596924	50596924	+	Silent	SNP	C	C	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr7:50596924C>T	ENST00000444124.2	-	5	752	c.552G>A	c.(550-552)gtG>gtA	p.V184V	DDC_ENST00000380984.4_Silent_p.V184V|DDC_ENST00000426377.1_Silent_p.V106V|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.V184V|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	184					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.V184V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	ATGAGTAAGCCACCAGCTTCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	7											87	82	83					7																	50596924		2203	4300	6503	50564418	SO:0001819	synonymous_variant	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.552G>A	7.37:g.50596924C>T			50564418	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	CCDS5511.1																																																																																				0.547	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			T	50596924	C	T	50596924	2	4	210	1	0	0	0	0	0	0	0	1	4325	581	21	2		2	DDC	7	50596924	Silent	SNP	C	TCGA-24-1103-01A-01W-0488-09	24363698	50596924	108541739	35	12122											
TRRAP	8295	genome.wustl.edu	37	7	98601890	98601890	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr7:98601890G>C	ENST00000359863.4	+	67	10554	c.10345G>C	c.(10345-10347)Gag>Cag	p.E3449Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.E3438Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3420Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3449					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.E3420Q(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAATCTTGGAGGCCAAGAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											87	99	95					7																	98601890		2203	4300	6503	98439826	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10345G>C	7.37:g.98601890G>C	ENSP00000352925:p.Glu3449Gln		98439826	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.067014|5.067014	0.93898|0.93898	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.81415|.	-1.49;-1.49|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70657|0.70657	0.3249|0.3249	L|L	0.49571|0.49571	1.57|1.57	0.80722|0.80722	D|D	1|1	D;D;D|.	0.57899|.	0.981;0.968;0.968|.	P;P;P|.	0.52554|.	0.702;0.53;0.53|.	T|T	0.66571|0.66571	-0.5890|-0.5890	10|5	0.38643|.	T|.	0.18|.	.|.	19.3185|19.3185	0.94226|0.94226	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3420;3177;3449|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|C	3449;3420;3437|3177	ENSP00000352925:E3449Q;ENSP00000347733:E3420Q|.	ENSP00000347733:E3420Q|.	E|W	+|+	1|3	0|0	TRRAP|TRRAP	98439826|98439826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.869000|9.869000	0.99810|0.99810	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GAG|TGG		0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		C	98601890	G	C	98601890	3	2	210	1	0	0	0	0	1	0	0	0	16601	1175	41	3	10516	3	TRRAP	7	98601890	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	48004966	98601890	60536773	36	12123											
C7orf47	221908	genome.wustl.edu	37	7	100033062	100033062	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr7:100033062G>C	ENST00000292330.2	-	4	873	c.683C>G	c.(682-684)cCt>cGt	p.P228R	RP11-758P17.3_ENST00000475250.1_RNA|PPP1R35_ENST00000476185.1_5'UTR|RP11-758P17.2_ENST00000492523.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	228					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.P228R(1)									AAGTCGGAGAGGGGGCAGACC	0.597																																																1	Substitution - Missense(1)	ovary(1)	7											81	78	79					7																	100033062		2203	4300	6503	99870998	SO:0001583	missense	221908			BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28320	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 47"	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.683C>G	7.37:g.100033062G>C	ENSP00000292330:p.Pro228Arg		99870998	A4D2C5	Missense_Mutation	SNP	ENST00000292330.2	37	CCDS5694.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472209	0.43942	.	.	ENSG00000160813	ENST00000292330	.	.	.	4.28	1.37	0.22104	.	0.907929	0.09371	N	0.811354	T	0.24353	0.0590	N	0.14661	0.345	0.22171	N	0.999315	B	0.12630	0.006	B	0.19391	0.025	T	0.24977	-1.0145	9	0.51188	T	0.08	-4.2502	4.3852	0.11312	0.2132:0.1885:0.5983:0.0	.	228	Q8TAP8	PPR35_HUMAN	R	228	.	ENSP00000292330:P228R	P	-	2	0	C7orf47	99870998	0.833000	0.29383	0.969000	0.41365	0.570000	0.35934	1.091000	0.30915	0.449000	0.26747	-0.479000	0.04858	CCT		0.597	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356095.2	NM_145030		C	100033062	G	C	100033062	3	2	210	1	0	0	0	0	1	0	0	0	2397	1000	35	3	82	3	C7orf47	7	100033062	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	1431172	100033062	59105601	37	12124											
RIPK2	8767	genome.wustl.edu	37	8	90782139	90782139	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr8:90782139T>A	ENST00000220751.4	+	4	937	c.623T>A	c.(622-624)aTc>aAc	p.I208N	RIPK2_ENST00000540020.1_Missense_Mutation_p.I71N	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.I208N(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AGGGCCAGTATCAAGCACGAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	8											96	97	97					8																	90782139		2203	4300	6503	90851276	SO:0001583	missense	8767			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.623T>A	8.37:g.90782139T>A	ENSP00000220751:p.Ile208Asn		90851276	B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353603	0.82243	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.64618	-0.11;-0.11	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.386589	0.18772	N	0.131597	T	0.56877	0.2015	N	0.13299	0.325	0.40513	D	0.980751	P	0.49961	0.93	P	0.50791	0.65	T	0.63171	-0.6697	10	0.54805	T	0.06	-8.6172	15.5959	0.76578	0.0:0.0:0.0:1.0	.	208	O43353	RIPK2_HUMAN	N	208;71	ENSP00000220751:I208N;ENSP00000441623:I71N	ENSP00000220751:I208N	I	+	2	0	RIPK2	90851276	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.621000	0.83083	2.277000	0.76020	0.528000	0.53228	ATC		0.388	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			A	90782139	T	A	90782139	3	1	210	1	0	0	0	0	1	0	0	0	13384	1435	50	5	637	5	RIPK2	8	90782139	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09		90782139	55581883	38	12125											
SLC26A7	115111	genome.wustl.edu	37	8	92307822	92307822	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr8:92307822T>G	ENST00000276609.3	+	4	607	c.368T>G	c.(367-369)aTg>aGg	p.M123R	SLC26A7_ENST00000523719.1_Missense_Mutation_p.M123R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.M123R	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.M123R(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTCAGAACATGCAGAATCTC	0.483																																																1	Substitution - Missense(1)	ovary(1)	8											168	139	149					8																	92307822		2203	4300	6503	92376998	SO:0001583	missense	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.368T>G	8.37:g.92307822T>G	ENSP00000276609:p.Met123Arg		92376998		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	T	0.094	-1.162834	0.01673	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.92397	-2.8;-3.03;-3.03;-3.03	5.48	-1.15	0.09709	.	0.939018	0.09099	N	0.848762	T	0.79470	0.4451	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62812	-0.6775	10	0.16420	T	0.52	.	1.8096	0.03087	0.2042:0.1032:0.4224:0.2702	.	123;123	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	R	123	ENSP00000428881:M123R;ENSP00000428849:M123R;ENSP00000276609:M123R;ENSP00000309504:M123R	ENSP00000276609:M123R	M	+	2	0	SLC26A7	92376998	0.012000	0.17670	0.014000	0.15608	0.171000	0.22731	0.598000	0.24074	-0.607000	0.05738	-0.376000	0.06991	ATG		0.483	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			G	92307822	T	G	92307822	3	3	210	1	0	0	0	0	1	0	0	0	14525	1464	51	5	378	5	SLC26A7	8	92307822	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09	1525683	92307822	54056200	39	12126											
ZFPM2	23414	genome.wustl.edu	37	8	106814742	106814749	+	Frame_Shift_Del	DEL	TTTCCAAA	TTTCCAAA	-			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	TTTCCAAA	TTTCCAAA	TTTCCAAA	-	TTTCCAAA	TTTCCAAA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr8:106814742_106814749delTTTCCAAA	ENST00000407775.2	+	8	2682_2689	c.2432_2439delTTTCCAAA	c.(2431-2439)gtttccaaafs	p.VSK811fs	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Frame_Shift_Del_p.VSK542fs|ZFPM2_ENST00000520492.1_Frame_Shift_Del_p.VSK679fs|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Frame_Shift_Del_p.VSK679fs	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	811					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S812fs*1(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGTGTTCCAGTTTCCAAATGTGATACTA	0.457																																																1	Deletion - Frameshift(1)	ovary(1)	8																																								106883925	SO:0001589	frameshift_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2432_2439delTTTCCAAA	8.37:g.106814742_106814749delTTTCCAAA	ENSP00000384179:p.Val811fs		106883918	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Frame_Shift_Del	DEL	ENST00000407775.2	37	CCDS47908.1																																																																																				0.457	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			-	106814749	TTTCCAAA	-	106814742	7	5	210	1	0	1	0	1	0	0	0	0	17658	1725	60	0	2462	0	ZFPM2	8	106814742	Frame_Shift_Del	DEL	TTTCCAAA	TCGA-24-1103-01A-01W-0488-09	14506920	106814742	39549280	40	12127											
FER1L6	654463	genome.wustl.edu	37	8	125109589	125109589	+	Silent	SNP	G	G	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr8:125109589G>A	ENST00000522917.1	+	36	4979	c.4773G>A	c.(4771-4773)agG>agA	p.R1591R	FER1L6_ENST00000399018.1_Silent_p.R1591R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1591	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.R1591R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTCTCCAAGGCGACCCAAAG	0.483																																																1	Substitution - coding silent(1)	ovary(1)	8											84	80	81					8																	125109589		1943	4163	6106	125178770	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4773G>A	8.37:g.125109589G>A			125178770		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	125109589	G	A	125109589	2	1	210	1	0	0	0	0	0	0	0	1	5815	1194	42	2		2	FER1L6	8	125109589	Silent	SNP	G	TCGA-24-1103-01A-01W-0488-09	18294847	125109589	21254433	41	12128											
FAM135B	51059	genome.wustl.edu	37	8	139153454	139153454	+	Silent	SNP	G	G	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr8:139153454G>C	ENST00000395297.1	-	17	3947	c.3777C>G	c.(3775-3777)acC>acG	p.T1259T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1259								p.T1259T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACTAACCAGGGTGCTGTTGT	0.542										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	ovary(2)	8											117	122	120					8																	139153454		1932	4128	6060	139222636	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3777C>G	8.37:g.139153454G>C			139222636	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.542	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		C	139153454	G	C	139153454	2	2	210	1	0	0	0	0	0	0	0	1	5449	1219	43	3		3	FAM135B	8	139153454	Silent	SNP	G	TCGA-24-1103-01A-01W-0488-09	14043865	139153454	7210568	42	12129											
ALDH1A1	216	genome.wustl.edu	37	9	75543929	75543929	+	Silent	SNP	C	C	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr9:75543929C>T	ENST00000297785.3	-	4	375	c.321G>A	c.(319-321)gaG>gaA	p.E107E	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Silent_p.E107E	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	107					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.E107E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	CATTCATTGACTCCATTGTCT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	9											106	90	95					9																	75543929		2203	4300	6503	74733749	SO:0001819	synonymous_variant	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.321G>A	9.37:g.75543929C>T			74733749	O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	CCDS6644.1																																																																																				0.358	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			T	75543929	C	T	75543929	2	4	210	1	0	0	0	0	0	0	0	1	490	564	20	2		2	ALDH1A1	9	75543929	Silent	SNP	C	TCGA-24-1103-01A-01W-0488-09		75543929	65669502	43	12130											
AGTPBP1	23287	genome.wustl.edu	37	9	88307703	88307703	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr9:88307703C>T	ENST00000357081.3	-	3	202	c.58G>A	c.(58-60)Gga>Aga	p.G20R	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.G72R|AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.G20R|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.G20R|AGTPBP1_ENST00000376080.1_5'Flank			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	20					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.G20R(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCCAGGAGTCCTACGATCCTA	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											112	99	104					9																	88307703		2203	4300	6503	87497523	SO:0001583	missense	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.58G>A	9.37:g.88307703C>T	ENSP00000349592:p.Gly20Arg		87497523	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	C	15.36	2.809505	0.50421	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.65	3.74	0.42951	Armadillo-type fold (1);	0.492066	0.21691	N	0.070568	T	0.27349	0.0671	N	0.22421	0.69	0.80722	D	1	P;P;B	0.37276	0.589;0.528;0.302	B;B;B	0.38616	0.154;0.277;0.154	T	0.09552	-1.0669	10	0.62326	D	0.03	-18.3816	5.3957	0.16268	0.0:0.7133:0.0:0.2867	.	72;20;20	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	R	20;20;72;20	ENSP00000349592:G20R;ENSP00000365251:G20R;ENSP00000365277:G72R;ENSP00000365249:G20R	ENSP00000349592:G20R	G	-	1	0	AGTPBP1	87497523	0.837000	0.29446	1.000000	0.80357	0.965000	0.64279	1.033000	0.30191	2.127000	0.65507	0.561000	0.74099	GGA		0.393	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		T	88307703	C	T	88307703	3	4	210	1	0	0	0	0	1	0	0	0	400	690	24	2	3598	2	AGTPBP1	9	88307703	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	12763774	88307703	52905728	44	12131											
KCNMA1	3778	genome.wustl.edu	37	10	78944639	78944639	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr10:78944639A>C	ENST00000286628.8	-	4	637	c.638T>G	c.(637-639)tTc>tGc	p.F213C	KCNMA1_ENST00000404857.1_Missense_Mutation_p.F213C|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F213C|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F213C|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F213C|KCNMA1_ENST00000286627.5_Missense_Mutation_p.F213C|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F213C|KCNMA1_ENST00000372443.1_Missense_Mutation_p.F213C	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	213					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.F213C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CTGTAATGTGAAATCTTTGTA	0.418																																																1	Substitution - Missense(1)	ovary(1)	10											171	154	160					10																	78944639		2203	4300	6503	78614645	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.638T>G	10.37:g.78944639A>C	ENSP00000286628:p.Phe213Cys		78614645	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.17|18.17|18.17	3.564517|3.564517|3.564517	0.65651|0.65651|0.65651	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857|ENST00000372421|ENST00000372403	T;T;T;T;T;T;T;T;T|.|.	0.41400|.|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.|.	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|.|.	0.053287|0.053287|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.39708|0.39708|0.39708	0.1088|0.1088|0.1088	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;P;P;P;P|.|.	0.54047|.|.	0.964;0.67;0.867;0.67;0.88;0.67|.|.	P;P;P;P;P;P|.|.	0.52267|.|.	0.694;0.497;0.694;0.497;0.694;0.497|.|.	T|T|T	0.32719|0.32719|0.32719	-0.9896|-0.9896|-0.9896	10|6|5	0.39692|.|.	T|.|.	0.17|.|.	-20.8216|-20.8216|-20.8216	15.9692|15.9692|15.9692	0.79998|0.79998|0.79998	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	213;213;213;213;213;213|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.|.|.	C|L|A	213;150;148;187;150;213;213;187;213;213;213|201|164	ENSP00000361517:F213C;ENSP00000361485:F150C;ENSP00000361514:F148C;ENSP00000396608:F187C;ENSP00000361520:F213C;ENSP00000286627:F213C;ENSP00000385552:F213C;ENSP00000346321:F213C;ENSP00000385806:F213C|.|.	ENSP00000286627:F213C|.|.	F|F|S	-|-|-	2|3|1	0|2|0	KCNMA1|KCNMA1|KCNMA1	78614645|78614645|78614645	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	9.216000|9.216000|9.216000	0.95154|0.95154|0.95154	2.302000|2.302000|2.302000	0.77476|0.77476|0.77476	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTC|TTT|TCA		0.418	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		C	78944639	A	C	78944639	3	2	210	1	0	0	0	0	1	0	0	0	8073	246	9	5	3344	5	KCNMA1	10	78944639	Missense_Mutation	SNP	A	TCGA-24-1103-01A-01W-0488-09		78944639	56590108	45	12132											
MKI67	4288	genome.wustl.edu	37	10	129901238	129901238	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr10:129901238G>C	ENST00000368654.3	-	13	9241	c.8866C>G	c.(8866-8868)Cta>Gta	p.L2956V	MKI67_ENST00000368653.3_Missense_Mutation_p.L2596V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2956					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.L2956V(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATATTTTTAGAGGTTTTCCA	0.483																																																1	Substitution - Missense(1)	ovary(1)	10											91	98	96					10																	129901238		2203	4300	6503	129791228	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8866C>G	10.37:g.129901238G>C	ENSP00000357643:p.Leu2956Val		129791228	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302197	0.23736	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01838	4.65;4.61	3.91	3.01	0.34805	.	1.287800	0.06003	N	0.648194	T	0.01695	0.0054	N	0.12746	0.255	0.09310	N	1	B;B;P	0.43750	0.172;0.311;0.816	B;B;B	0.36766	0.058;0.147;0.232	T	0.49771	-0.8904	10	0.24483	T	0.36	.	8.9845	0.35986	0.0:0.2887:0.7113:0.0	.	2955;2596;2956	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	2956;2596;2955	ENSP00000357643:L2956V;ENSP00000357642:L2596V	ENSP00000357642:L2596V	L	-	1	2	MKI67	129791228	0.004000	0.15560	0.012000	0.15200	0.011000	0.07611	0.562000	0.23531	0.997000	0.38969	0.561000	0.74099	CTA		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129901238	G	C	129901238	3	2	210	1	0	0	0	0	1	0	0	0	9598	933	33	3	916	3	MKI67	10	129901238	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	50956599	129901238	5633509	46	12133											
TRPM5	29850	genome.wustl.edu	37	11	2432892	2432892	+	Silent	SNP	G	G	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr11:2432892G>C	ENST00000155858.6	-	17	2588	c.2580C>G	c.(2578-2580)ggC>ggG	p.G860G	TRPM5_ENST00000452833.1_Silent_p.G862G|TRPM5_ENST00000528453.1_Silent_p.G860G|TRPM5_ENST00000533060.1_Silent_p.G860G	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5									p.G860G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGATCTTGGGGCCCAGCTGCT	0.662																																					NSCLC(1;49 61 17205 18850 43201)											1	Substitution - coding silent(1)	ovary(1)	11											73	74	74					11																	2432892		2202	4298	6500	2389468	SO:0001819	synonymous_variant	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2580C>G	11.37:g.2432892G>C			2389468		Silent	SNP	ENST00000155858.6	37	CCDS31340.1																																																																																				0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		C	2432892	G	C	2432892	2	2	210	1	0	0	0	0	0	0	0	1	16589	1190	42	3		3	TRPM5	11	2432892	Silent	SNP	G	TCGA-24-1103-01A-01W-0488-09		2432892	132573624	47	12134											
OR5B21	219968	genome.wustl.edu	37	11	58275032	58275032	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr11:58275032G>C	ENST00000360374.2	-	1	546	c.547C>G	c.(547-549)Ctg>Gtg	p.L183V		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L183V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGAGAGCCAGGAGTGGGGGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	11											53	50	51					11																	58275032		2201	4295	6496	58031608	SO:0001583	missense	219968				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"GPCR / Class A : Olfactory receptors"	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.547C>G	11.37:g.58275032G>C	ENSP00000353537:p.Leu183Val		58031608		Missense_Mutation	SNP	ENST00000360374.2	37	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	G	8.062	0.768280	0.15983	.	.	ENSG00000198283	ENST00000360374	T	0.00304	8.19	5.22	-4.11	0.03928	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29335	U	0.012450	T	0.00210	0.0006	L	0.54323	1.7	0.09310	N	1	B	0.22983	0.078	B	0.27608	0.081	T	0.43972	-0.9358	10	0.54805	T	0.06	-4.8057	13.0369	0.58877	0.5545:0.0:0.4455:0.0	.	183	A6NL26	OR5BL_HUMAN	V	183	ENSP00000353537:L183V	ENSP00000353537:L183V	L	-	1	2	OR5B21	58031608	0.000000	0.05858	0.057000	0.19452	0.547000	0.35210	-2.811000	0.00755	-0.618000	0.05656	0.563000	0.77884	CTG		0.478	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		C	58275032	G	C	58275032	3	2	210	1	0	0	0	0	1	0	0	0	11151	991	35	3	384	3	OR5B21	11	58275032	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	55842140	58275032	76731484	48	12135											
ALG8	79053	genome.wustl.edu	37	11	77838457	77838457	+	Missense_Mutation	SNP	G	G	C	rs200888240		TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr11:77838457G>C	ENST00000299626.5	-	2	192	c.121C>G	c.(121-123)Cga>Gga	p.R41G	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Missense_Mutation_p.R41G	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	41					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.R41*(1)|p.R41G(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			AGCCAGTTTCGGTGTACTTCA	0.294																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|large_intestine(1)	11											87	84	85					11																	77838457		2200	4292	6492	77516105	SO:0001583	missense	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.121C>G	11.37:g.77838457G>C	ENSP00000299626:p.Arg41Gly		77516105	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591780	0.66219	.	.	ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000530454;ENST00000530910;ENST00000525761	D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93	5.26	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.96852	0.8972	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97315	0.9940	10	0.87932	D	0	-5.172	12.7775	0.57457	0.0:0.0:0.6858:0.3142	.	41;41	Q9BVK2;A6NDW6	ALG8_HUMAN;.	G	41;41;42;32;15	ENSP00000299626:R41G;ENSP00000365326:R41G;ENSP00000434660:R42G;ENSP00000437033:R32G;ENSP00000431357:R15G	ENSP00000299626:R41G	R	-	1	2	ALG8	77516105	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.713000	0.47194	2.458000	0.83093	0.460000	0.39030	CGA		0.294	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079		C	77838457	G	C	77838457	3	2	210	1	0	0	0	0	1	0	0	0	523	1124	39	3	1566	3	ALG8	11	77838457	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	19563425	77838457	57168059	49	12136											
PRMT8	56341	genome.wustl.edu	37	12	3686064	3686064	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr12:3686064T>G	ENST00000382622.3	+	7	1130	c.740T>G	c.(739-741)aTg>aGg	p.M247R	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.M238R	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	247	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.M247R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GGCTTTGACATGACCTGCATC	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											283	255	264					12																	3686064		2203	4300	6503	3556325	SO:0001583	missense	56341			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.740T>G	12.37:g.3686064T>G	ENSP00000372067:p.Met247Arg		3556325	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	13.77	2.335704	0.41398	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.79554	-1.28;-1.28	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	H	0.96861	3.895	0.80722	D	1	B;B	0.25272	0.122;0.017	B;B	0.22386	0.039;0.008	D	0.87133	0.2198	10	0.87932	D	0	.	13.0795	0.59104	0.0:0.0:0.0:1.0	.	238;247	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	R	238;247	ENSP00000414507:M238R;ENSP00000372067:M247R	ENSP00000372067:M247R	M	+	2	0	PRMT8	3556325	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	8.005000	0.88553	1.978000	0.57642	0.533000	0.62120	ATG		0.562	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		G	3686064	T	G	3686064	3	3	210	1	0	0	0	0	1	0	0	0	12545	1464	51	5	766	5	PRMT8	12	3686064	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09		3686064	130165831	50	12137											
FOXJ2	55810	genome.wustl.edu	37	12	8200495	8200495	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr12:8200495G>A	ENST00000162391.3	+	7	1980	c.835G>A	c.(835-837)Ggg>Agg	p.G279R	FOXJ2_ENST00000428177.2_Missense_Mutation_p.G279R	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	279					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.G279R(1)		autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTCTCTCCTGGGGGACATCCC	0.552																																																1	Substitution - Missense(1)	ovary(1)	12											51	58	55					12																	8200495		2203	4300	6503	8091762	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.835G>A	12.37:g.8200495G>A	ENSP00000162391:p.Gly279Arg		8091762	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962854	0.74016	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95137	-3.37;-3.62	5.42	5.42	0.78866	.	2.072210	0.02298	N	0.070893	D	0.96790	0.8952	L	0.51422	1.61	0.50467	D	0.999876	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.88020	0.2768	10	0.25106	T	0.35	.	15.0867	0.72158	0.0:0.0:1.0:0.0	.	279;279	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	R	279	ENSP00000162391:G279R;ENSP00000403411:G279R	ENSP00000162391:G279R	G	+	1	0	FOXJ2	8091762	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.915000	0.69973	2.702000	0.92279	0.462000	0.41574	GGG		0.552	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		A	8200495	G	A	8200495	3	1	210	1	0	0	0	0	1	0	0	0	6012	1232	43	2	857	2	FOXJ2	12	8200495	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	4514431	8200495	125651400	51	12138											
AACS	65985	genome.wustl.edu	37	12	125609498	125609498	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr12:125609498C>T	ENST00000316519.6	+	12	1443	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	AACS_ENST00000316543.10_Missense_Mutation_p.P11S|AACS_ENST00000545511.1_5'UTR|AACS_ENST00000261686.6_Missense_Mutation_p.P413S	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	413					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.P413S(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CACTGGCTCCCCACTGAAAGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	12											95	87	89					12																	125609498		2203	4300	6503	124175451	SO:0001583	missense	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1237C>T	12.37:g.125609498C>T	ENSP00000324842:p.Pro413Ser		124175451	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883264	0.91740	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000441247;ENST00000316543;ENST00000538851	T;T;T;T;T	0.56275	2.51;2.51;0.47;2.51;0.47	4.85	4.85	0.62838	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.81600	-0.0859	10	0.62326	D	0.03	.	17.9935	0.89176	0.0:1.0:0.0:0.0	.	413;413	Q86V21-2;Q86V21	.;AACS_HUMAN	S	413;413;232;11;78	ENSP00000324842:P413S;ENSP00000261686:P413S;ENSP00000392967:P232S;ENSP00000324929:P11S;ENSP00000441686:P78S	ENSP00000261686:P413S	P	+	1	0	AACS	124175451	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.007000	0.76335	2.237000	0.73441	0.462000	0.41574	CCA		0.557	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		T	125609498	C	T	125609498	3	4	210	1	0	0	0	0	1	0	0	0	9	623	22	2	1283	2	AACS	12	125609498	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	117409003	125609498	8242397	52	12139											
BRCA2	675	genome.wustl.edu	37	13	32913404	32913404	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr13:32913404A>G	ENST00000380152.3	+	11	5145	c.4912A>G	c.(4912-4914)Aaa>Gaa	p.K1638E	BRCA2_ENST00000544455.1_Missense_Mutation_p.K1638E			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1638	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.K1638E(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTGAAAGTTAAAGTACATGA	0.323			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	1	Substitution - Missense(1)	ovary(1)	13											34	37	36					13																	32913404		2200	4297	6497	31811404	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4912A>G	13.37:g.32913404A>G	ENSP00000369497:p.Lys1638Glu		31811404	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432088	0.25813	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01145	5.27;5.27	5.82	2.03	0.26663	.	1.053530	0.07338	N	0.880304	T	0.01627	0.0052	L	0.53249	1.67	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.49670	-0.8915	10	0.30078	T	0.28	.	5.2312	0.15422	0.5578:0.1439:0.2983:0.0	.	1638	P51587	BRCA2_HUMAN	E	1638	ENSP00000369497:K1638E;ENSP00000439902:K1638E	ENSP00000369497:K1638E	K	+	1	0	BRCA2	31811404	0.031000	0.19500	0.050000	0.19076	0.660000	0.38997	0.058000	0.14301	0.107000	0.17824	0.533000	0.62120	AAA		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		G	32913404	A	G	32913404	3	3	210	1	0	0	0	0	1	0	0	0	1499	363	13	4	4950	4	BRCA2	13	32913404	Missense_Mutation	SNP	A	TCGA-24-1103-01A-01W-0488-09		32913404	82256474	53	12140											
AHNAK2	113146	genome.wustl.edu	37	14	105406647	105406647	+	Silent	SNP	A	A	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr14:105406647A>C	ENST00000333244.5	-	7	15260	c.15141T>G	c.(15139-15141)ccT>ccG	p.P5047P	AHNAK2_ENST00000557457.1_Silent_p.P45P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5047						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P17P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TAGAAAGGGAAGGATCCACGT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	14											112	116	115					14																	105406647		2018	4189	6207	104477692	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15141T>G	14.37:g.105406647A>C			104477692	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105406647	A	C	105406647	2	2	210	1	0	0	0	0	0	0	0	1	415	59	3	5		5	AHNAK2	14	105406647	Silent	SNP	A	TCGA-24-1103-01A-01W-0488-09		105406647	1942893	54	12141											
PDE8A	5151	genome.wustl.edu	37	15	85669589	85669589	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr15:85669589A>C	ENST00000310298.4	+	21	2489	c.2237A>C	c.(2236-2238)gAa>gCa	p.E746A	PDE8A_ENST00000394553.1_Missense_Mutation_p.E746A|PDE8A_ENST00000557957.1_Missense_Mutation_p.E674A|PDE8A_ENST00000339708.5_Missense_Mutation_p.E700A			O60658	PDE8A_HUMAN	phosphodiesterase 8A	746	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E746A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CGCATTTCGGAAGAATATTTT	0.433																																																1	Substitution - Missense(1)	ovary(1)	15											75	75	75					15																	85669589		2203	4299	6502	83470593	SO:0001583	missense	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2237A>C	15.37:g.85669589A>C	ENSP00000311453:p.Glu746Ala		83470593	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453964	0.84209	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.78924	-1.22;-1.22;-1.22	5.27	5.27	0.74061	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.993;0.998	D	0.89692	0.3898	10	0.59425	D	0.04	.	13.2495	0.60043	1.0:0.0:0.0:0.0	.	700;746	O60658-2;O60658	.;PDE8A_HUMAN	A	746;746;700	ENSP00000311453:E746A;ENSP00000378056:E746A;ENSP00000340679:E700A	ENSP00000311453:E746A	E	+	2	0	PDE8A	83470593	1.000000	0.71417	0.951000	0.38953	0.931000	0.56810	8.775000	0.91772	2.221000	0.72209	0.524000	0.50904	GAA		0.433	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		C	85669589	A	C	85669589	3	2	210	1	0	0	0	0	1	0	0	0	11653	246	9	5	2315	5	PDE8A	15	85669589	Missense_Mutation	SNP	A	TCGA-24-1103-01A-01W-0488-09		85669589	16861803	55	12142											
TP53	7157	genome.wustl.edu	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr17:7577018C>T	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TGCTTGCTTACCTCGCTTAGT	0.562		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"	38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(7)|breast(7)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|large_intestine(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|oesophagus(1)|prostate(1)	17	GRCh37	CD920913	TP53	D							127	112	117					17																	7577018		2203	4300	6503	7517743	SO:0001630	splice_region_variant	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.919+1G>A	17.37:g.7577018C>T			7517743	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156918	0.21454	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.038	0.36300	0.0:0.9:0.0:0.1	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517743	1.000000	0.71417	0.939000	0.37840	0.223000	0.24884	4.456000	0.60081	1.259000	0.44117	0.561000	0.74099	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7577018	C	T	7577018	5	4	210	1	0	0	0	0	0	0	1	0	16381	521	18	2	366	2	TP53	17	7577018	Splice_Site	SNP	C	TCGA-24-1103-01A-01W-0488-09		7577018	73618192	56	12143											
FNDC8	54752	genome.wustl.edu	37	17	33457378	33457378	+	Silent	SNP	C	C	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr17:33457378C>T	ENST00000158009.5	+	4	1015	c.900C>T	c.(898-900)ccC>ccT	p.P300P	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	300						nucleus (GO:0005634)		p.P300P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GCAAGGAACCCCGGCAAAAGA	0.572																																																1	Substitution - coding silent(1)	ovary(1)	17											66	66	66					17																	33457378		2203	4300	6503	30481491	SO:0001819	synonymous_variant	54752			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"Fibronectin type III domain containing"	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.900C>T	17.37:g.33457378C>T			30481491	B2R9G6|Q9UFC2	Silent	SNP	ENST00000158009.5	37	CCDS11290.1																																																																																				0.572	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		T	33457378	C	T	33457378	2	4	210	1	0	0	0	0	0	0	0	1	5974	610	22	2		2	FNDC8	17	33457378	Silent	SNP	C	TCGA-24-1103-01A-01W-0488-09	25880360	33457378	47737832	57	12144											
QRICH2	84074	genome.wustl.edu	37	17	74288004	74288004	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr17:74288004C>A	ENST00000262765.5	-	4	2485	c.2306G>T	c.(2305-2307)gGt>gTt	p.G769V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	769								p.G769V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGGATAGGCACCAGGTTGTAC	0.527																																																1	Substitution - Missense(1)	ovary(1)	17											187	179	181					17																	74288004		2203	4300	6503	71799599	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2306G>T	17.37:g.74288004C>A	ENSP00000262765:p.Gly769Val		71799599	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456917	0.43634	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.13901	2.55	4.8	3.81	0.43845	.	.	.	.	.	T	0.31482	0.0798	L	0.58101	1.795	0.21950	N	0.999458	D;D	0.89917	0.992;1.0	D;D	0.76071	0.936;0.987	T	0.04930	-1.0917	9	0.48119	T	0.1	-1.9699	11.2216	0.48857	0.0:0.8142:0.1858:0.0	.	769;769	B5MD94;Q9H0J4	.;QRIC2_HUMAN	V	769	ENSP00000262765:G769V	ENSP00000262765:G769V	G	-	2	0	QRICH2	71799599	0.000000	0.05858	0.142000	0.22268	0.604000	0.37047	0.707000	0.25704	1.103000	0.41568	0.448000	0.29417	GGT		0.527	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74288004	C	A	74288004	3	1	210	1	0	0	0	0	1	0	0	0	12883	507	18	3	2749	3	QRICH2	17	74288004	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	40830626	74288004	6907206	58	12145											
NDUFV2	4729	genome.wustl.edu	37	18	9122597	9122597	+	Silent	SNP	G	G	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr18:9122597G>A	ENST00000318388.6	+	5	501	c.387G>A	c.(385-387)aaG>aaA	p.K129K	NDUFV2_ENST00000400033.1_Silent_p.K132K|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	129					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.K129K(1)		breast(1)|lung(4)|ovary(1)|stomach(1)	7						CAGTTGGAAAGTATCACATTC	0.383																																																1	Substitution - coding silent(1)	ovary(1)	18											122	110	114					18																	9122597		2203	4300	6503	9112597	SO:0001819	synonymous_variant	4729			X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.387G>A	18.37:g.9122597G>A			9112597	Q9BV41	Silent	SNP	ENST00000318388.6	37	CCDS11842.1																																																																																				0.383	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		A	9122597	G	A	9122597	2	1	210	1	0	0	0	0	0	0	0	1	10300	1020	36	2		2	NDUFV2	18	9122597	Silent	SNP	G	TCGA-24-1103-01A-01W-0488-09		9122597	68954651	59	12146											
TCEB3B	51224	genome.wustl.edu	37	18	44560049	44560049	+	Silent	SNP	C	C	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr18:44560049C>T	ENST00000332567.4	-	1	1939	c.1587G>A	c.(1585-1587)ctG>ctA	p.L529L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	529	Activation domain. {ECO:0000250}.|Interacting with Elongin BC complex. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L529L(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTGCTGGCGCAGCGTCGGCA	0.617																																																1	Substitution - coding silent(1)	ovary(1)	18											69	76	73					18																	44560049		2203	4300	6503	42814047	SO:0001819	synonymous_variant	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1587G>A	18.37:g.44560049C>T			42814047	Q9P2V9	Silent	SNP	ENST00000332567.4	37	CCDS11932.1																																																																																				0.617	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		T	44560049	C	T	44560049	2	4	210	1	0	0	0	0	0	0	0	1	15682	697	25	2		2	TCEB3B	18	44560049	Silent	SNP	C	TCGA-24-1103-01A-01W-0488-09	35437452	44560049	33517199	60	12147											
ZNF491	126069	genome.wustl.edu	37	19	11917171	11917171	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr19:11917171T>A	ENST00000323169.5	+	3	734	c.403T>A	c.(403-405)Ttt>Att	p.F135I	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F135I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TAAATGTAAGTTTTGTGGGAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	19											98	98	98					19																	11917171		2203	4300	6503	11778171	SO:0001583	missense	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.403T>A	19.37:g.11917171T>A	ENSP00000313443:p.Phe135Ile		11778171	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	t	4.272	0.049688	0.08243	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.18657	2.52;2.2	0.914	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07548	0.0190	N	0.03029	-0.43	0.09310	N	1	B	0.22851	0.076	B	0.26614	0.071	T	0.29181	-1.0020	9	0.72032	D	0.01	.	1.8011	0.03071	0.1621:0.1694:0.4593:0.2092	.	135	Q8N8L2	ZN491_HUMAN	I	135	ENSP00000313443:F135I;ENSP00000392176:F135I	ENSP00000313443:F135I	F	+	1	0	ZNF491	11778171	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.308000	0.01131	-1.711000	0.01395	-0.473000	0.04963	TTT		0.378	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		A	11917171	T	A	11917171	3	1	210	1	0	0	0	0	1	0	0	0	17942	1725	60	5	405	5	ZNF491	19	11917171	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09		11917171	47211812	61	12148											
ZNF791	163049	genome.wustl.edu	37	19	12739521	12739522	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	TC	TC	TC	-	TC	TC	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr19:12739521_12739522delTC	ENST00000343325.4	+	4	1340_1341	c.1178_1179delTC	c.(1177-1179)ttcfs	p.F393fs	AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.F361fs|ZNF791_ENST00000540038.1_Frame_Shift_Del_p.F284fs|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F393fs*1(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGGAAAACTTTCAATTATCCTC	0.366																																																1	Deletion - Frameshift(1)	ovary(1)	19																																								12600522	SO:0001589	frameshift_variant	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1178_1179delTC	19.37:g.12739521_12739522delTC	ENSP00000342974:p.Phe393fs		12600521	B7Z586|Q8NC99	Frame_Shift_Del	DEL	ENST00000343325.4	37	CCDS12273.1																																																																																				0.366	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		-	12739522	TC	-	12739521	7	5	210	1	0	1	0	1	0	0	0	0	18163	1783	62	0	1192	0	ZNF791	19	12739521	Frame_Shift_Del	DEL	TC	TCGA-24-1103-01A-01W-0488-09	822350	12739521	46389462	62	12149											
ZNF682	91120	genome.wustl.edu	37	19	20117349	20117349	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr19:20117349G>A	ENST00000397165.2	-	4	1122	c.962C>T	c.(961-963)gCc>gTc	p.A321V	ZNF682_ENST00000358523.5_Missense_Mutation_p.A289V|ZNF682_ENST00000397162.1_Missense_Mutation_p.A289V|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.A327V|ZNF682_ENST00000595736.1_Missense_Mutation_p.A245V	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A321V(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GTGGTTAAAGGCTTTCCCACA	0.413																																																1	Substitution - Missense(1)	ovary(1)	19											85	89	88					19																	20117349		2161	4259	6420	19978349	SO:0001583	missense	91120			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"Zinc fingers, C2H2-type", "-"	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.962C>T	19.37:g.20117349G>A	ENSP00000380351:p.Ala321Val		19978349	B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	G	5.075	0.199425	0.09652	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.37411	2.56;1.2;1.2	1.09	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32763	0.0840	L	0.39898	1.24	0.09310	N	1	P	0.50066	0.931	P	0.49085	0.6	T	0.12604	-1.0541	9	0.48119	T	0.1	.	5.0165	0.14339	0.0:0.3858:0.6142:0.0	.	321	O95780	ZN682_HUMAN	V	321;289;289	ENSP00000380351:A321V;ENSP00000380348:A289V;ENSP00000351324:A289V	ENSP00000351324:A289V	A	-	2	0	ZNF682	19978349	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.659000	0.24994	0.488000	0.27723	0.491000	0.48974	GCC		0.413	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		A	20117349	G	A	20117349	3	1	210	1	0	0	0	0	1	0	0	0	18089	1203	42	2	538	2	ZNF682	19	20117349	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	7377828	20117349	39011634	63	12150											
CLPTM1	1209	genome.wustl.edu	37	19	45477794	45477794	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr19:45477794G>T	ENST00000337392.5	+	4	558	c.408G>T	c.(406-408)tgG>tgT	p.W136C	CLPTM1_ENST00000546079.1_Missense_Mutation_p.W34C|CLPTM1_ENST00000541297.2_Missense_Mutation_p.W122C	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	136					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.W136C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATGGCGACTGGACTAGCGGCG	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											140	113	122					19																	45477794		2203	4300	6503	50169634	SO:0001583	missense	1209			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.408G>T	19.37:g.45477794G>T	ENSP00000336994:p.Trp136Cys		50169634	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574542	0.86542	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.87513	0.2441	9	0.56958	D	0.05	-14.7161	16.5186	0.84307	0.0:0.0:1.0:0.0	.	122;136;136	F5H8J3;B3KQH2;O96005	.;.;CLPT1_HUMAN	C	34;122;136;136	.	ENSP00000336994:W136C	W	+	3	0	CLPTM1	50169634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.844000	0.92147	2.755000	0.94549	0.650000	0.86243	TGG		0.562	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		T	45477794	G	T	45477794	3	4	210	1	0	0	0	0	1	0	0	0	3554	1183	41	3	422	3	CLPTM1	19	45477794	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	25360445	45477794	13651189	64	12151											
TMC2	117532	genome.wustl.edu	37	20	2592923	2592923	+	Silent	SNP	C	C	A	rs560610752		TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr20:2592923C>A	ENST00000358864.1	+	13	1695	c.1680C>A	c.(1678-1680)ccC>ccA	p.P560P	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	560					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.P560P(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGAGTGTCCCCCGACCACCCC	0.488																																																1	Substitution - coding silent(1)	ovary(1)	20											112	104	106					20																	2592923		2203	4300	6503	2540923	SO:0001819	synonymous_variant	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1680C>A	20.37:g.2592923C>A			2540923	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	CCDS13029.2																																																																																				0.488	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			A	2592923	C	A	2592923	2	1	210	1	0	0	0	0	0	0	0	1	15985	610	22	3		3	TMC2	20	2592923	Silent	SNP	C	TCGA-24-1103-01A-01W-0488-09		2592923	60432597	65	12152											
FAM83C	128876	genome.wustl.edu	37	20	33874443	33874443	+	Silent	SNP	C	C	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr20:33874443C>G	ENST00000374408.3	-	4	2235	c.2139G>C	c.(2137-2139)ctG>ctC	p.L713L	EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	713								p.L713L(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CATCCCTGACCAGGTCACTGT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	20											110	103	106					20																	33874443		2203	4300	6503	33337857	SO:0001819	synonymous_variant	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2139G>C	20.37:g.33874443C>G			33337857	Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	CCDS13251.1																																																																																				0.552	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			G	33874443	C	G	33874443	2	3	210	1	0	0	0	0	0	0	0	1	5635	581	21	3		3	FAM83C	20	33874443	Silent	SNP	C	TCGA-24-1103-01A-01W-0488-09	31281520	33874443	29151077	66	12153											
FAM83D	81610	genome.wustl.edu	37	20	37580833	37580833	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr20:37580833G>T	ENST00000217429.4	+	4	1559	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	476					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K506N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCAGTTTGAAGTCTTCCTCCT	0.483																																																1	Substitution - Missense(1)	ovary(1)	20											91	89	90					20																	37580833		1958	4144	6102	37014247	SO:0001583	missense	81610			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1518G>T	20.37:g.37580833G>T	ENSP00000217429:p.Lys506Asn		37014247	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991943	0.35131	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12774	2.65	5.49	3.56	0.40772	.	0.734380	0.13069	N	0.416256	T	0.12008	0.0292	L	0.43152	1.355	0.29107	N	0.881104	B	0.31125	0.309	B	0.29785	0.107	T	0.14035	-1.0487	10	0.42905	T	0.14	.	7.2166	0.25963	0.1539:0.1398:0.7063:0.0	.	476	Q9H4H8	FA83D_HUMAN	N	506;460	ENSP00000217429:K506N	ENSP00000217429:K506N	K	+	3	2	FAM83D	37014247	0.158000	0.22850	0.873000	0.34254	0.703000	0.40648	0.559000	0.23485	0.802000	0.34089	0.655000	0.94253	AAG		0.483	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			T	37580833	G	T	37580833	3	4	210	1	0	0	0	0	1	0	0	0	5636	1020	36	3	1532	3	FAM83D	20	37580833	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09	3706390	37580833	25444687	67	12154											
C21orf63	59271	genome.wustl.edu	37	21	33887379	33887379	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr21:33887379G>T	ENST00000300255.2	+	8	1678	c.1205G>T	c.(1204-1206)aGt>aTt	p.S402I	EVA1C_ENST00000382699.3_Missense_Mutation_p.S399I|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Missense_Mutation_p.S354I	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	402						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S402I(1)									CCTATATACAGTTCCATAGAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	21											100	111	107					21																	33887379		2203	4300	6503	32809250	SO:0001583	missense	59271			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 64", "chromosome 21 open reading frame 63", "family with sequence similarity 176, member C"	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1205G>T	21.37:g.33887379G>T	ENSP00000300255:p.Ser402Ile		32809250	A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113251	0.56398	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.46063	0.88;0.88;0.88	5.67	4.76	0.60689	.	0.421443	0.29253	N	0.012686	T	0.38161	0.1030	M	0.68317	2.08	0.27093	N	0.962801	P;P	0.47302	0.893;0.893	B;B	0.41619	0.361;0.361	T	0.46610	-0.9179	10	0.48119	T	0.1	-7.5604	5.0178	0.14345	0.1815:0.1902:0.6283:0.0	.	399;402	A6ND58;P58658	.;CU063_HUMAN	I	402;354;399	ENSP00000300255:S402I;ENSP00000384594:S354I;ENSP00000372146:S399I	ENSP00000300255:S402I	S	+	2	0	C21orf63	32809250	0.169000	0.23002	0.996000	0.52242	0.971000	0.66376	1.686000	0.37669	1.332000	0.45431	0.655000	0.94253	AGT		0.507	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		T	33887379	G	T	33887379	3	4	210	1	0	0	0	0	1	0	0	0	2131	1029	36	3	1235	3	C21orf63	21	33887379	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09		33887379	14242516	68	12155											
MX2	4600	genome.wustl.edu	37	21	42749907	42749907	+	Splice_Site	SNP	C	C	T			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr21:42749907C>T	ENST00000330714.3	+	3	625	c.441C>T	c.(439-441)agC>agT	p.S147S	MX2_ENST00000543692.1_Splice_Site_p.S147S	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	147	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S147S(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CCAGAGGCAGCGGTAAGTTCA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	21											48	45	46					21																	42749907		2203	4300	6503	41671777	SO:0001630	splice_region_variant	4600				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.442+1C>T	21.37:g.42749907C>T			41671777	B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	CCDS13672.1																																																																																				0.627	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	Silent	T	42749907	C	T	42749907	5	4	210	1	0	0	0	0	0	0	1	0	9998	782	27	1	447	1	MX2	21	42749907	Splice_Site	SNP	C	TCGA-24-1103-01A-01W-0488-09	8862528	42749907	5379988	69	12156											
UMODL1	89766	genome.wustl.edu	37	21	43533871	43533871	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr21:43533871C>A	ENST00000408910.2	+	13	2293	c.2293C>A	c.(2293-2295)Cac>Aac	p.H765N	UMODL1_ENST00000400424.2_Missense_Mutation_p.H693N|UMODL1_ENST00000400427.1_Missense_Mutation_p.H821N|UMODL1_ENST00000408989.2_Missense_Mutation_p.H893N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	765	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.H693N(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGGGTCTTGCACCTGGTTGA	0.532																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											1	Substitution - Missense(1)	ovary(1)	21											62	63	62					21																	43533871		1986	4160	6146	42406940	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2293C>A	21.37:g.43533871C>A	ENSP00000386147:p.His765Asn		42406940	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	5.738	0.320701	0.10845	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	4.7	-3.6	0.04570	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.903581	0.09300	N	0.821066	T	0.41003	0.1140	L	0.29908	0.895	0.09310	N	1	P;P	0.46912	0.886;0.867	B;B	0.44044	0.439;0.249	T	0.41752	-0.9491	9	.	.	.	-12.5618	12.772	0.57426	0.0:0.1827:0.0:0.8173	.	893;765	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	N	821;693;893;765	ENSP00000383279:H821N;ENSP00000383276:H693N;ENSP00000386126:H893N;ENSP00000386147:H765N	.	H	+	1	0	UMODL1	42406940	0.000000	0.05858	0.026000	0.17262	0.145000	0.21501	-0.407000	0.07178	-0.607000	0.05738	0.556000	0.70494	CAC		0.532	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			A	43533871	C	A	43533871	3	1	210	1	0	0	0	0	1	0	0	0	16980	710	25	3	2723	3	UMODL1	21	43533871	Missense_Mutation	SNP	C	TCGA-24-1103-01A-01W-0488-09	783964	43533871	4596024	70	12157											
AIFM3	150209	genome.wustl.edu	37	22	21328884	21328884	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chr22:21328884G>A	ENST00000399167.2	+	7	821	c.581G>A	c.(580-582)aGc>aAc	p.S194N	AIFM3_ENST00000335375.5_Missense_Mutation_p.S182N|AIFM3_ENST00000333607.6_Missense_Mutation_p.S194N|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.S194N|AIFM3_ENST00000399163.2_Missense_Mutation_p.S194N|AIFM3_ENST00000405089.1_Missense_Mutation_p.S200N	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	194					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.S194N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACAGCAGTAGCACCAATGTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	22											148	120	129					22																	21328884		2203	4300	6503	19658884	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.581G>A	22.37:g.21328884G>A	ENSP00000382120:p.Ser194Asn		19658884	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750852	0.31046	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000434714;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;D;T;T;T;T	0.82711	0.78;0.78;-1.64;0.77;0.74;0.78;0.78	5.05	5.05	0.67936	.	0.113450	0.56097	D	0.000028	T	0.66567	0.2802	N	0.08118	0	0.35487	D	0.798644	B;B;B;B;B	0.21753	0.06;0.035;0.022;0.022;0.013	B;B;B;B;B	0.18561	0.013;0.017;0.022;0.022;0.01	T	0.67534	-0.5646	10	0.18276	T	0.48	-8.0494	13.8919	0.63744	0.0:0.0:1.0:0.0	.	182;182;200;194;194	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	N	194;194;194;200;182;194;194	ENSP00000382120:S194N;ENSP00000382116:S194N;ENSP00000399657:S194N;ENSP00000385800:S200N;ENSP00000335369:S182N;ENSP00000390798:S194N;ENSP00000327671:S194N	ENSP00000327671:S194N	S	+	2	0	AIFM3	19658884	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.634000	0.46528	2.322000	0.78497	0.561000	0.74099	AGC		0.602	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		A	21328884	G	A	21328884	3	1	210	1	0	0	0	0	1	0	0	0	428	971	34	2	621	2	AIFM3	22	21328884	Missense_Mutation	SNP	G	TCGA-24-1103-01A-01W-0488-09		21328884	29975682	71	12158											
KIAA2022	340533	genome.wustl.edu	37	X	73959989	73959989	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chrX:73959989T>C	ENST00000055682.6	-	3	5014	c.4403A>G	c.(4402-4404)gAg>gGg	p.E1468G		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1468					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.E1468G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGTTCTCGCTCCATGTGCTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											209	164	179					X																	73959989		2203	4300	6503	73876714	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4403A>G	X.37:g.73959989T>C	ENSP00000055682:p.Glu1468Gly		73876714	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769015	0.69992	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.39997	1.05;1.05	5.36	5.36	0.76844	.	0.154190	0.56097	D	0.000022	T	0.43055	0.1230	L	0.29908	0.895	0.52099	D	0.999942	D	0.53312	0.959	P	0.50659	0.647	T	0.44112	-0.9349	10	0.87932	D	0	-10.3741	14.4375	0.67293	0.0:0.0:0.0:1.0	.	1468	Q5QGS0	K2022_HUMAN	G	1468	ENSP00000362567:E1468G;ENSP00000055682:E1468G	ENSP00000055682:E1468G	E	-	2	0	KIAA2022	73876714	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	1.789000	0.52484	0.441000	0.28932	GAG		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		C	73959989	T	C	73959989	3	2	210	1	0	0	0	0	1	0	0	0	8269	1551	54	4	155	4	KIAA2022	23	73959989	Missense_Mutation	SNP	T	TCGA-24-1103-01A-01W-0488-09		73959989	81310571	72	12159											
DOCK11	139818	genome.wustl.edu	37	X	117699974	117699974	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chrX:117699974A>G	ENST00000276202.7	+	8	763	c.700A>G	c.(700-702)Aaa>Gaa	p.K234E	DOCK11_ENST00000276204.6_Missense_Mutation_p.K234E	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	234	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K234E(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTAGTGCCCCAAAATGCGCCG	0.353																																																1	Substitution - Missense(1)	ovary(1)	X											126	126	126					X																	117699974		2203	4300	6503	117584002	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.700A>G	X.37:g.117699974A>G	ENSP00000276202:p.Lys234Glu		117584002	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547337	0.86022	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.02916	4.11;4.11	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048021	0.85682	D	0.000000	T	0.11324	0.0276	L	0.54323	1.7	0.58432	D	0.999999	P	0.52842	0.956	D	0.68765	0.96	T	0.01791	-1.1273	10	0.46703	T	0.11	-9.585	14.3048	0.66377	1.0:0.0:0.0:0.0	.	234	Q5JSL3	DOC11_HUMAN	E	234	ENSP00000276204:K234E;ENSP00000276202:K234E	ENSP00000276202:K234E	K	+	1	0	DOCK11	117584002	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.013000	0.76373	1.837000	0.53436	0.345000	0.21793	AAA		0.353	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		G	117699974	A	G	117699974	3	3	210	1	0	0	0	0	1	0	0	0	4686	131	5	4	730	4	DOCK11	23	117699974	Missense_Mutation	SNP	A	TCGA-24-1103-01A-01W-0488-09	43739985	117699974	37570586	73	12160											
F8	2157	genome.wustl.edu	37	X	154133086	154133086	+	Splice_Site	SNP	C	C	A			TCGA-24-1103-01A-01W-0488-09	TCGA-24-1103-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	47b7427c-a91a-4872-bc08-50c07ba60512	90bb47eb-1220-4fb7-8208-93453a8b1e35	g.chrX:154133086C>A	ENST00000360256.4	-	16	5786	c.5586G>T	c.(5584-5586)ctG>ctT	p.L1862L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1862	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.L1862L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACCTGCTTACCAGGTCAACAT	0.373																																																2	Substitution - coding silent(2)	ovary(2)	X	GRCh37	CS910427	F8	S							92	76	81					X																	154133086		2203	4300	6503	153786280	SO:0001630	splice_region_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5586+1G>T	X.37:g.154133086C>A			153786280	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.373	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Silent	A	154133086	C	A	154133086	5	1	210	1	0	0	0	0	0	0	1	0	5350	608	21	3	1541	3	F8	23	154133086	Splice_Site	SNP	C	TCGA-24-1103-01A-01W-0488-09	36433112	154133086	1137474	74	12161											
USP48	84196	genome.wustl.edu	37	1	22021622	22021622	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr1:22021622T>A	ENST00000308271.9	-	23	3468	c.2820A>T	c.(2818-2820)aaA>aaT	p.K940N	USP48_ENST00000529637.1_Missense_Mutation_p.K952N|USP48_ENST00000400301.1_Intron|USP48_ENST00000374732.3_Intron	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	940	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.K940N(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CACCACGAACTTTTCTATGTC	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											162	154	157					1																	22021622		2203	4299	6502	21894209	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2820A>T	1.37:g.22021622T>A	ENSP00000309262:p.Lys940Asn		21894209	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059348	0.76074	.	.	ENSG00000090686	ENST00000308271;ENST00000529637	T;T	0.06218	3.33;3.35	5.95	2.5	0.30297	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.62723	1.935	0.80722	D	1	D;B;D;D	0.76494	0.998;0.378;0.999;0.985	D;B;D;P	0.80764	0.979;0.056;0.994;0.622	T	0.00638	-1.1632	10	0.48119	T	0.1	.	7.8839	0.29637	0.0:0.2719:0.0:0.7281	.	952;940;65;940	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5	.;.;.;UBP48_HUMAN	N	940;952	ENSP00000309262:K940N;ENSP00000431949:K952N	ENSP00000309262:K940N	K	-	3	2	USP48	21894209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.490000	0.22403	1.092000	0.41356	0.533000	0.62120	AAA		0.378	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		A	22021622	T	A	22021622	3	1	211	1	0	0	0	0	1	0	0	0	17079	1606	56	5	307	5	USP48	1	22021622	Missense_Mutation	SNP	T	TCGA-24-1104-01A-01W-0488-09		22021622	227228999	1	12162											
TESK2	10420	genome.wustl.edu	37	1	45810773	45810773	+	Silent	SNP	G	G	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr1:45810773G>C	ENST00000372086.3	-	11	1855	c.1455C>G	c.(1453-1455)cgC>cgG	p.R485R	TESK2_ENST00000538496.1_Silent_p.R402R|TESK2_ENST00000341771.6_Silent_p.R456R|TESK2_ENST00000372084.1_Silent_p.R456R|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	485					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R469R(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GACTACTTAGGCGTGGTGGGG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	1											126	131	130					1																	45810773		1911	4121	6032	45583360	SO:0001819	synonymous_variant	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1455C>G	1.37:g.45810773G>C			45583360	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Silent	SNP	ENST00000372086.3	37	CCDS41323.1																																																																																				0.562	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		C	45810773	G	C	45810773	2	2	211	1	0	0	0	0	0	0	0	1	15768	1190	42	3		3	TESK2	1	45810773	Silent	SNP	G	TCGA-24-1104-01A-01W-0488-09	23789151	45810773	203439848	2	12163											
GOLPH3L	55204	genome.wustl.edu	37	1	150634360	150634360	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr1:150634360A>T	ENST00000271732.3	-	4	404	c.360T>A	c.(358-360)gaT>gaA	p.D120E	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D76E	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	120					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)	p.D120E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGAGTTTCATCCAGTAAAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											188	181	183					1																	150634360		2203	4300	6503	148900984	SO:0001583	missense	55204			AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.360T>A	1.37:g.150634360A>T	ENSP00000271732:p.Asp120Glu		148900984	B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	CCDS966.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883708	0.72410	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.4	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.82139	0.4972	H	0.95470	3.675	0.58432	D	0.999999	D;D	0.76494	0.999;0.968	D;D	0.91635	0.999;0.968	D	0.85884	0.1424	9	0.72032	D	0.01	-19.317	10.3198	0.43758	0.9226:0.0:0.0773:0.0	.	76;120	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	E	120;142;76;142	.	ENSP00000271732:D120E	D	-	3	2	GOLPH3L	148900984	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	1.034000	0.30204	1.071000	0.40834	0.528000	0.53228	GAT		0.373	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		T	150634360	A	T	150634360	3	4	211	1	0	0	0	0	1	0	0	0	6569	214	8	5	505	5	GOLPH3L	1	150634360	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09	104823587	150634360	98616261	3	12164											
RASAL2	9462	genome.wustl.edu	37	1	178420710	178420710	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr1:178420710G>C	ENST00000462775.1	+	8	1313	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D	RASAL2_ENST00000367649.3_Missense_Mutation_p.E544D|RASAL2_ENST00000448150.3_Missense_Mutation_p.E526D	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	396	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.E526D(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAATAGGGGAGTTTATCAAAG	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											150	148	149					1																	178420710		2203	4300	6503	176687333	SO:0001583	missense	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1188G>C	1.37:g.178420710G>C	ENSP00000420558:p.Glu396Asp		176687333	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440130	0.25900	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;T;D	0.82433	-1.61;2.2;-1.61	5.84	0.615	0.17608	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.115453	0.56097	D	0.000022	T	0.63546	0.2520	N	0.11255	0.115	0.58432	D	0.999998	B;B	0.06786	0.001;0.0	B;B	0.17098	0.017;0.001	T	0.50659	-0.8802	10	0.52906	T	0.07	.	5.8512	0.18694	0.3258:0.0:0.5557:0.1185	.	396;544	Q9UJF2;F8W755	NGAP_HUMAN;.	D	526;544;396	ENSP00000407768:E526D;ENSP00000356621:E544D;ENSP00000420558:E396D	ENSP00000356621:E544D	E	+	3	2	RASAL2	176687333	1.000000	0.71417	0.999000	0.59377	0.373000	0.29922	1.519000	0.35888	0.116000	0.18110	-0.751000	0.03497	GAG		0.378	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		C	178420710	G	C	178420710	3	2	211	1	0	0	0	0	1	0	0	0	13067	1020	36	3	1687	3	RASAL2	1	178420710	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	27786350	178420710	70829911	4	12165											
RGS8	85397	genome.wustl.edu	37	1	182617331	182617331	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr1:182617331G>C	ENST00000483095.2	-	6	558	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	RGS8_ENST00000367557.4_Missense_Mutation_p.L101V|RGS8_ENST00000367556.1_Missense_Mutation_p.L101V|RGS8_ENST00000258302.4_Missense_Mutation_p.L119V			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	101	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.L119V(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TTAGAGACCAGTTTTGCAGTT	0.542																																					Ovarian(189;1262 3804 41973)											1	Substitution - Missense(1)	ovary(1)	1											192	183	186					1																	182617331		2203	4300	6503	180883954	SO:0001583	missense	85397			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.301C>G	1.37:g.182617331G>C	ENSP00000426289:p.Leu101Val		180883954	B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270736	0.80469	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.51	4.54	0.55810	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.137638	0.50627	D	0.000112	T	0.06188	0.0160	L	0.45285	1.41	0.51233	D	0.999918	P;P	0.45474	0.859;0.49	P;P	0.55871	0.786;0.635	T	0.52366	-0.8585	10	0.30078	T	0.28	.	14.8071	0.69965	0.0:0.0:0.8551:0.1449	.	101;119	P57771;P57771-2	RGS8_HUMAN;.	V	101;119;101;101	ENSP00000426289:L101V;ENSP00000258302:L119V;ENSP00000356528:L101V;ENSP00000356527:L101V	ENSP00000258302:L119V	L	-	1	2	RGS8	180883954	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	2.913000	0.48790	2.595000	0.87683	0.558000	0.71614	CTG		0.542	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		C	182617331	G	C	182617331	3	2	211	1	0	0	0	0	1	0	0	0	13315	1020	36	3	249	3	RGS8	1	182617331	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	4196621	182617331	66633290	5	12166											
RGL1	23179	genome.wustl.edu	37	1	183816732	183816732	+	Silent	SNP	A	A	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr1:183816732A>G	ENST00000360851.3	+	3	349	c.171A>G	c.(169-171)acA>acG	p.T57T	RGL1_ENST00000536277.1_Silent_p.T55T|RGL1_ENST00000304685.4_Silent_p.T92T|RGL1_ENST00000539189.1_Silent_p.T57T			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	57					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.T92T(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CAGGACACACAGTCAGTCAAT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	1											173	182	179					1																	183816732		2203	4300	6503	182083355	SO:0001819	synonymous_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.171A>G	1.37:g.183816732A>G			182083355	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37																																																																																					0.418	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		G	183816732	A	G	183816732	2	3	211	1	0	0	0	0	0	0	0	1	13279	175	7	4		4	RGL1	1	183816732	Silent	SNP	A	TCGA-24-1104-01A-01W-0488-09	1199401	183816732	65433889	6	12167											
RGS18	64407	genome.wustl.edu	37	1	192128428	192128428	+	Silent	SNP	T	T	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr1:192128428T>G	ENST00000367460.3	+	2	379	c.198T>G	c.(196-198)tcT>tcG	p.S66S	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	66					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.S66S(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGTAGATCTGGGCACTTGG	0.363																																																1	Substitution - coding silent(1)	ovary(1)	1											43	47	45					1																	192128428		2203	4299	6502	190395051	SO:0001819	synonymous_variant	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.198T>G	1.37:g.192128428T>G			190395051	B2RD23	Silent	SNP	ENST00000367460.3	37	CCDS1374.1																																																																																				0.363	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		G	192128428	T	G	192128428	2	3	211	1	0	0	0	0	0	0	0	1	13303	1567	55	5		5	RGS18	1	192128428	Silent	SNP	T	TCGA-24-1104-01A-01W-0488-09	8311696	192128428	57122193	7	12168											
FCAMR	83953	genome.wustl.edu	37	1	207140975	207140975	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr1:207140975C>G	ENST00000324852.4	-	2	535	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q	FCAMR_ENST00000450945.2_Missense_Mutation_p.E21Q|FCAMR_ENST00000400962.3_Missense_Mutation_p.E21Q	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	320					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E21Q(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TAGTCCACTTCTCTTCCTCTC	0.443																																					Ovarian(199;1883 2142 16966 44409 45154)											1	Substitution - Missense(1)	ovary(1)	1											203	172	181					1																	207140975		1568	3582	5150	205207598	SO:0001583	missense	83953			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.61G>C	1.37:g.207140975C>G	ENSP00000316491:p.Glu21Gln		205207598	Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	C	6.106	0.387864	0.11581	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945	T;T;T	0.10005	2.92;3.28;2.92	2.82	-1.75	0.08031	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.39418	-0.9615	7	0.33940	T	0.23	.	0.4994	0.00577	0.1844:0.3286:0.2252:0.2617	.	.	.	.	Q	21	ENSP00000383746:E21Q;ENSP00000316491:E21Q;ENSP00000392707:E21Q	ENSP00000316491:E21Q	E	-	1	0	FCAMR	205207598	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.947000	0.03901	-0.368000	0.08040	-0.181000	0.13052	GAA		0.443	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		G	207140975	C	G	207140975	3	3	211	1	0	0	0	0	1	0	0	0	5772	922	32	3	1700	3	FCAMR	1	207140975	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09	15012547	207140975	42109646	8	12169											
CR1	1378	genome.wustl.edu	37	1	207785120	207785120	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr1:207785120A>T	ENST00000367049.4	+	38	6394	c.6394A>T	c.(6394-6396)Agc>Tgc	p.S2132C	CR1_ENST00000400960.2_Missense_Mutation_p.S1682C|CR1_ENST00000367052.1_Missense_Mutation_p.S1682C|CR1_ENST00000367053.1_Missense_Mutation_p.S1682C|CR1_ENST00000367051.1_Missense_Mutation_p.S1682C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1682					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.S1687C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGTGAGCCCAGCTATGACCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											121	122	122					1																	207785120		1956	4151	6107	205851743	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6394A>T	1.37:g.207785120A>T	ENSP00000356016:p.Ser2132Cys		205851743	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298419	0.40694	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	3.48	-0.751	0.11076	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.62865	0.2463	L	0.49571	1.57	0.09310	N	1	P;D	0.59767	0.481;0.986	B;P	0.53912	0.318;0.737	T	0.55786	-0.8086	9	0.72032	D	0.01	.	7.6476	0.28329	0.6088:0.0:0.3912:0.0	.	1682;2132	P17927;E9PDY4	CR1_HUMAN;.	C	1682;1682;1682;1682;2132	ENSP00000356019:S1682C;ENSP00000356018:S1682C;ENSP00000356020:S1682C;ENSP00000383744:S1682C;ENSP00000356016:S2132C	ENSP00000356016:S2132C	S	+	1	0	CR1	205851743	0.002000	0.14202	0.000000	0.03702	0.320000	0.28249	-0.296000	0.08287	-0.424000	0.07382	-0.215000	0.12644	AGC		0.577	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		T	207785120	A	T	207785120	3	4	211	1	0	0	0	0	1	0	0	0	3840	188	7	5	6544	5	CR1	1	207785120	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09	644145	207785120	41465501	9	12170											
SDC1	6382	genome.wustl.edu	37	2	20403737	20403737	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr2:20403737C>A	ENST00000254351.4	-	3	708	c.464G>T	c.(463-465)aGg>aTg	p.R155M	SDC1_ENST00000381150.1_Missense_Mutation_p.R155M|SDC1_ENST00000403076.1_Missense_Mutation_p.R155M|SDC1_ENST00000482879.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	155					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.R155M(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTGCATGTCCCTGTGGGGGTG	0.662																																																1	Substitution - Missense(1)	ovary(1)	2											93	91	92					2																	20403737		2203	4300	6503	20267218	SO:0001583	missense	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.464G>T	2.37:g.20403737C>A	ENSP00000254351:p.Arg155Met		20267218	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863149	0.32884	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.37584	2.16;2.16;1.19;1.31	3.87	2.99	0.34606	.	0.665977	0.14217	N	0.333639	T	0.50497	0.1619	M	0.68317	2.08	0.09310	N	0.999995	D;D	0.67145	0.996;0.992	P;P	0.61397	0.888;0.864	T	0.32161	-0.9917	10	0.87932	D	0	-9.0989	7.4358	0.27154	0.0:0.8822:0.0:0.1178	.	155;155	E9PHH3;P18827	.;SDC1_HUMAN	M	155;155;155;163	ENSP00000254351:R155M;ENSP00000370542:R155M;ENSP00000384613:R155M;ENSP00000400773:R163M	ENSP00000254351:R155M	R	-	2	0	SDC1	20267218	0.961000	0.32948	0.375000	0.26029	0.093000	0.18481	0.759000	0.26461	1.209000	0.43321	0.561000	0.74099	AGG		0.662	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		A	20403737	C	A	20403737	3	1	211	1	0	0	0	0	1	0	0	0	13954	681	24	3	480	3	SDC1	2	20403737	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09		20403737	222795636	10	12171											
HEATR5B	54497	genome.wustl.edu	37	2	37215847	37215847	+	Silent	SNP	C	C	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr2:37215847C>T	ENST00000233099.5	-	35	5948	c.5853G>A	c.(5851-5853)gcG>gcA	p.A1951A	HEATR5B_ENST00000354531.2_Silent_p.A1862A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1951						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.A1951A(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTTCTTGAACCGCTAAAAGCT	0.353																																																1	Substitution - coding silent(1)	ovary(1)	2											75	74	74					2																	37215847		2203	4300	6503	37069351	SO:0001819	synonymous_variant	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5853G>A	2.37:g.37215847C>T			37069351	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																				0.353	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		T	37215847	C	T	37215847	2	4	211	1	0	0	0	0	0	0	0	1	7032	639	23	1		1	HEATR5B	2	37215847	Silent	SNP	C	TCGA-24-1104-01A-01W-0488-09	16812110	37215847	205983526	11	12172											
BOLL	66037	genome.wustl.edu	37	2	198646522	198646522	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr2:198646522A>G	ENST00000392296.4	-	2	362	c.53T>C	c.(52-54)tTg>tCg	p.L18S	BOLL_ENST00000321801.7_Missense_Mutation_p.L30S|BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000433157.1_Missense_Mutation_p.L18S|BOLL_ENST00000430004.1_Missense_Mutation_p.L18S	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	18					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.L18S(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TGGGTTATTCAAAGGCACAGG	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											215	220	218					2																	198646522		2203	4300	6503	198354767	SO:0001583	missense	66037				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.53T>C	2.37:g.198646522A>G	ENSP00000376116:p.Leu18Ser		198354767	B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831981	0.71258	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.62	5.62	0.85841	.	0.311986	0.27971	N	0.017105	T	0.43010	0.1228	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	D;D;D;D	0.83275	0.996;0.991;0.969;0.986	T	0.20638	-1.0269	10	0.15952	T	0.53	-18.8161	13.3359	0.60518	1.0:0.0:0.0:0.0	.	24;30;18;24	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	S	18;18;30;18	ENSP00000397711:L18S;ENSP00000376116:L18S;ENSP00000314792:L30S;ENSP00000396099:L18S	ENSP00000314792:L30S	L	-	2	0	BOLL	198354767	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.231000	0.72307	2.134000	0.65973	0.459000	0.35465	TTG		0.378	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		G	198646522	A	G	198646522	3	3	211	1	0	0	0	0	1	0	0	0	1487	131	5	4	838	4	BOLL	2	198646522	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09	161430675	198646522	44552851	12	12173											
TRPM8	79054	genome.wustl.edu	37	2	234862615	234862616	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	GC	GC	GC	AT	GC	GC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr2:234862615_234862616GC>AT	ENST00000324695.4	+	10	1235_1236	c.1195_1196GC>AT	c.(1195-1197)GCt>ATt	p.A399I	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Missense_Mutation_p.A87I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	399					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AATGGAAGAAGCTGGGGATGAA	0.396																																																0			2																																								234527355	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	Exception_encountered	2.37:g.234862615_234862616delinsAT	ENSP00000323926:p.Ala399Ile		234527354	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	DNP	ENST00000324695.4	37	CCDS33407.1																																																																																				0.396	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		AT	234862616	GC	AT	234862615	3	1	211	1	0	0	0	0	1	0	0	0	16592	971	34	2	1229	2	TRPM8	2	234862615	Missense_Mutation	DNP	GC	TCGA-24-1104-01A-01W-0488-09	36216093	234862615	8336758	13	12174											
PDCD6IP	10015	genome.wustl.edu	37	3	33894096	33894096	+	Silent	SNP	A	A	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr3:33894096A>T	ENST00000307296.3	+	13	2135	c.1758A>T	c.(1756-1758)acA>acT	p.T586T	PDCD6IP_ENST00000457054.2_Silent_p.T591T			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	586	Interaction with EIAV p9.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.T586T(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AGTTTTTGACAGCCCTGGCTC	0.378																																																1	Substitution - coding silent(1)	ovary(1)	3											21	22	22					3																	33894096		2102	4233	6335	33869100	SO:0001819	synonymous_variant	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1758A>T	3.37:g.33894096A>T			33869100	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	ENST00000307296.3	37	CCDS2660.1																																																																																				0.378	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			T	33894096	A	T	33894096	2	4	211	1	0	0	0	0	0	0	0	1	11624	175	7	5		5	PDCD6IP	3	33894096	Silent	SNP	A	TCGA-24-1104-01A-01W-0488-09		33894096	164128334	14	12175											
ALAS1	211	genome.wustl.edu	37	3	52239987	52239987	+	Silent	SNP	G	G	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr3:52239987G>C	ENST00000394965.2	+	7	1293	c.933G>C	c.(931-933)tcG>tcC	p.S311S	ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S|ALAS1_ENST00000469224.1_Silent_p.S311S	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	311					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.S311S(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TGTTTTCCTCGTGCTTTGTGG	0.483																																																1	Substitution - coding silent(1)	ovary(1)	3											166	157	160					3																	52239987		2203	4300	6503	52215027	SO:0001819	synonymous_variant	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.933G>C	3.37:g.52239987G>C			52215027		Silent	SNP	ENST00000394965.2	37	CCDS2847.1																																																																																				0.483	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			C	52239987	G	C	52239987	2	2	211	1	0	0	0	0	0	0	0	1	484	1132	40	3		3	ALAS1	3	52239987	Silent	SNP	G	TCGA-24-1104-01A-01W-0488-09	18345891	52239987	145782443	15	12176											
ALCAM	214	genome.wustl.edu	37	3	105268974	105268974	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr3:105268974G>C	ENST00000306107.5	+	12	1878	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	ALCAM_ENST00000472644.2_Missense_Mutation_p.E460Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.E182Q|ALCAM_ENST00000486979.2_Missense_Mutation_p.E409Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	460	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.E460Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTTCCAGACAGAGGAATCTCC	0.358																																																1	Substitution - Missense(1)	ovary(1)	3											95	118	110					3																	105268974		2196	4294	6490	106751664	SO:0001583	missense	214			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1378G>C	3.37:g.105268974G>C	ENSP00000305988:p.Glu460Gln		106751664	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.256318|3.256318	0.59321|0.59321	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|.	0.74315|.	4.05;4.05;4.05;-0.83|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.619093|.	0.18841|.	N|.	0.129698|.	T|T	0.59945|0.59945	0.2231|0.2231	L|L	0.29908|0.29908	0.895|0.895	0.37028|0.37028	D|D	0.896525|0.896525	P;B;P|.	0.47484|.	0.896;0.338;0.565|.	P;B;P|.	0.46419|.	0.516;0.355;0.475|.	T|T	0.57093|0.57093	-0.7870|-0.7870	10|5	0.24483|.	T|.	0.36|.	-1.0867|-1.0867	20.3343|20.3343	0.98733|0.98733	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	182;460;460|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	Q|T	460;460;409;182|220	ENSP00000305988:E460Q;ENSP00000419236:E460Q;ENSP00000418213:E409Q;ENSP00000374577:E182Q|.	ENSP00000305988:E460Q|.	E|R	+|+	1|2	0|0	ALCAM|ALCAM	106751664|106751664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.399000|6.399000	0.73248|0.73248	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.358	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		C	105268974	G	C	105268974	3	2	211	1	0	0	0	0	1	0	0	0	487	943	33	3	1424	3	ALCAM	3	105268974	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	53028987	105268974	92753456	16	12177											
RYK	6259	genome.wustl.edu	37	3	133907752	133907752	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr3:133907752A>G	ENST00000427044.2	-	10	1074	c.464T>C	c.(463-465)aTt>aCt	p.I155T	RYK_ENST00000296084.4_Missense_Mutation_p.I345T			P34925	RYK_HUMAN	receptor-like tyrosine kinase	341	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.I341T(1)		lung(1)|ovary(3)	4						CCCATGGAAAATACGCCCAAA	0.269																																																1	Substitution - Missense(1)	ovary(1)	3											67	63	64					3																	133907752		1795	4060	5855	135390442	SO:0001583	missense	6259			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.464T>C	3.37:g.133907752A>G	ENSP00000399527:p.Ile155Thr		135390442	Q04696	Missense_Mutation	SNP	ENST00000427044.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.42|16.42	3.119620|3.119620	0.56613|0.56613	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000460933|ENST00000296084;ENST00000427044	.|T;D	.|0.89552	.|0.72;-2.53	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93249|0.93249	0.7849|0.7849	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.60160	.|0.987;0.984	.|D;D	.|0.72982	.|0.979;0.964	D|D	0.93982|0.93982	0.7259|0.7259	5|10	.|0.87932	.|D	.|0	-8.5785|-8.5785	15.6409|15.6409	0.77001|0.77001	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|341;344	.|P34925;P34925-2	.|RYK_HUMAN;.	L|T	324|345;155	.|ENSP00000296084:I345T;ENSP00000399527:I155T	.|ENSP00000296084:I345T	F|I	-|-	1|2	0|0	RYK|RYK	135390442|135390442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.541000|8.541000	0.90644|0.90644	2.143000|2.143000	0.66587|0.66587	0.528000|0.528000	0.53228|0.53228	TTT|ATT		0.269	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		G	133907752	A	G	133907752	3	3	211	1	0	0	0	0	1	0	0	0	13770	101	4	4	820	4	RYK	3	133907752	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09	28638778	133907752	64114678	17	12178											
MMRN1	22915	genome.wustl.edu	37	4	90816148	90816148	+	Missense_Mutation	SNP	T	T	C	rs371041048		TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr4:90816148T>C	ENST00000394980.1	+	2	345	c.26T>C	c.(25-27)cTt>cCt	p.L9P	MMRN1_ENST00000264790.2_Missense_Mutation_p.L9P|MMRN1_ENST00000394981.1_Missense_Mutation_p.L9P			Q13201	MMRN1_HUMAN	multimerin 1	9					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.L9P(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTATTTGTCCTTCTTTCTAGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	4											79	85	83					4																	90816148		2203	4300	6503	91035171	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.26T>C	4.37:g.90816148T>C	ENSP00000378431:p.Leu9Pro		91035171	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.714084	0.68730	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;D	0.83419	-0.57;-0.57;-1.72	4.91	4.91	0.64330	.	0.000000	0.41938	D	0.000781	D	0.89083	0.6614	M	0.66939	2.045	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89889	0.4036	10	0.87932	D	0	.	11.5037	0.50451	0.0:0.0:0.0:1.0	.	9;9	Q13201-2;Q13201	.;MMRN1_HUMAN	P	9	ENSP00000378431:L9P;ENSP00000264790:L9P;ENSP00000378432:L9P	ENSP00000264790:L9P	L	+	2	0	MMRN1	91035171	0.942000	0.31987	0.987000	0.45799	0.934000	0.57294	3.748000	0.55142	2.137000	0.66172	0.460000	0.39030	CTT		0.433	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		C	90816148	T	C	90816148	3	2	211	1	0	0	0	0	1	0	0	0	9670	1609	56	4	28	4	MMRN1	4	90816148	Missense_Mutation	SNP	T	TCGA-24-1104-01A-01W-0488-09		90816148	100338128	18	12179											
SLC25A4	291	genome.wustl.edu	37	4	186066369	186066369	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr4:186066369G>A	ENST00000281456.6	+	2	695	c.563G>A	c.(562-564)aGa>aAa	p.R188K		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	188					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)	p.R188K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	ATTATCTATAGAGCTGCCTAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	4											52	56	55					4																	186066369		2203	4300	6503	186303363	SO:0001583	missense	291			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"Solute carriers"	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.563G>A	4.37:g.186066369G>A	ENSP00000281456:p.Arg188Lys		186303363	D3DP59	Missense_Mutation	SNP	ENST00000281456.6	37	CCDS34114.1	.	.	.	.	.	.	.	.	.	.	G	36	5.710152	0.96821	.	.	ENSG00000151729	ENST00000281456	T	0.78595	-1.19	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89880	0.6843	M	0.87900	2.915	0.80722	D	1	D	0.62365	0.991	D	0.68765	0.96	D	0.90554	0.4511	10	0.87932	D	0	-0.0037	19.9142	0.97043	0.0:0.0:1.0:0.0	.	188	P12235	ADT1_HUMAN	K	188	ENSP00000281456:R188K	ENSP00000281456:R188K	R	+	2	0	SLC25A4	186303363	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	AGA		0.512	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151		A	186066369	G	A	186066369	3	1	211	1	0	0	0	0	1	0	0	0	14507	942	33	2	569	2	SLC25A4	4	186066369	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	95250221	186066369	5087907	19	12180											
SEMA6A	57556	genome.wustl.edu	37	5	115840593	115840593	+	Silent	SNP	A	A	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr5:115840593A>C	ENST00000343348.6	-	2	835	c.48T>G	c.(46-48)gcT>gcG	p.A16A	SEMA6A_ENST00000503962.1_5'Flank|SEMA6A_ENST00000257414.8_Silent_p.A16A|SEMA6A_ENST00000510263.1_Silent_p.A16A|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	16					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.A16A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AACCAGCCCCAGCAAAGTGTA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	5											72	77	75					5																	115840593		1869	4106	5975	115868492	SO:0001819	synonymous_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.48T>G	5.37:g.115840593A>C			115868492	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1																																																																																				0.448	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		C	115840593	A	C	115840593	2	2	211	1	0	0	0	0	0	0	0	1	14042	175	7	5		5	SEMA6A	5	115840593	Silent	SNP	A	TCGA-24-1104-01A-01W-0488-09		115840593	65074667	20	12181											
TCOF1	6949	genome.wustl.edu	37	5	149771583	149771583	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr5:149771583G>A	ENST00000504761.2	+	21	3361	c.3361G>A	c.(3361-3363)Ggg>Agg	p.G1121R	TCOF1_ENST00000445265.2_Missense_Mutation_p.G1044R|TCOF1_ENST00000323668.7_Missense_Mutation_p.G1044R|TCOF1_ENST00000439160.2_Missense_Mutation_p.G1083R|TCOF1_ENST00000377797.3_Missense_Mutation_p.G1121R|TCOF1_ENST00000451292.1_Missense_Mutation_p.G1158R|TCOF1_ENST00000513346.1_Missense_Mutation_p.G1120R			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1121					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.G1044R(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGCCAAAGGGACCAACAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											75	72	73					5																	149771583		2203	4300	6503	149751776	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3361G>A	5.37:g.149771583G>A	ENSP00000421655:p.Gly1121Arg		149751776	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952875	0.53293	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.92;-0.84;-0.84;-0.95;-0.84	5.45	-0.635	0.11512	.	1.583740	0.04157	N	0.322316	T	0.65678	0.2714	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P	0.48503	0.911;0.911;0.911;0.855;0.911	P;P;P;B;P	0.47981	0.563;0.563;0.563;0.36;0.563	T	0.59418	-0.7458	10	0.52906	T	0.07	0.4829	9.6282	0.39763	0.4768:0.0:0.5232:0.0	.	1083;1044;1083;1121;1044	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	R	1158;1121;1044;1044;1083;1083;1121;1120	ENSP00000400939:G1158R;ENSP00000367028:G1121R;ENSP00000409944:G1044R;ENSP00000325223:G1044R;ENSP00000406888:G1083R;ENSP00000390717:G1083R;ENSP00000421655:G1121R;ENSP00000427484:G1120R	ENSP00000325223:G1044R	G	+	1	0	TCOF1	149751776	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.193000	0.17116	-0.107000	0.12088	-0.140000	0.14226	GGG		0.532	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		A	149771583	G	A	149771583	3	1	211	1	0	0	0	0	1	0	0	0	15708	1000	35	2	3465	2	TCOF1	5	149771583	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	33930990	149771583	31143677	21	12182											
HIVEP2	3097	genome.wustl.edu	37	6	143095406	143095406	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr6:143095406C>T	ENST00000367604.1	-	4	1109	c.470G>A	c.(469-471)aGt>aAt	p.S157N	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S157N|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S157N			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S157N(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGGGTTCAGACTTGAAATCTT	0.448																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											1	Substitution - Missense(1)	ovary(1)	6											131	128	129					6																	143095406		1869	4101	5970	143137099	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.470G>A	6.37:g.143095406C>T	ENSP00000356576:p.Ser157Asn		143137099	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	9.919	1.211578	0.22289	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02579	4.24;4.24;4.24	5.69	1.82	0.25136	.	0.312448	0.43747	N	0.000533	T	0.00998	0.0033	L	0.56769	1.78	0.19775	N	0.999951	B	0.06786	0.001	B	0.06405	0.002	T	0.49093	-0.8975	10	0.22706	T	0.39	-17.1226	6.9847	0.24721	0.0:0.6235:0.115:0.2615	.	157	P31629	ZEP2_HUMAN	N	157	ENSP00000356576:S157N;ENSP00000356575:S157N;ENSP00000012134:S157N	ENSP00000012134:S157N	S	-	2	0	HIVEP2	143137099	0.999000	0.42202	0.633000	0.29310	0.998000	0.95712	2.333000	0.43912	0.043000	0.15746	0.655000	0.94253	AGT		0.448	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			T	143095406	C	T	143095406	3	4	211	1	0	0	0	0	1	0	0	0	7187	565	20	2	6894	2	HIVEP2	6	143095406	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09		143095406	28019661	22	12183											
BZW2	28969	genome.wustl.edu	37	7	16734485	16734496	+	In_Frame_Del	DEL	TGTGGATCATTT	TGTGGATCATTT	-			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	TGTGGATCATTT	TGTGGATCATTT	TGTGGATCATTT	-	TGTGGATCATTT	TGTGGATCATTT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr7:16734485_16734496delTGTGGATCATTT	ENST00000433922.2	+	8	856_867	c.678_689delTGTGGATCATTT	c.(676-690)agtgtggatcatttt>agt	p.VDHF227del	AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_In_Frame_Del_p.VDHF227del|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000405202.1_In_Frame_Del_p.VDHF151del|BZW2_ENST00000407633.1_In_Frame_Del_p.VDHF33del|BZW2_ENST00000432311.1_Intron	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	227					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.V227_F230del(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		ACAGACAGAGTGTGGATCATTTTGCTAAATAC	0.448																																																1	Deletion - In frame(1)	ovary(1)	7																																								16701021	SO:0001651	inframe_deletion	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.678_689delTGTGGATCATTT	7.37:g.16734485_16734496delTGTGGATCATTT	ENSP00000397249:p.Val227_Phe230del		16701010	A4D123|Q3B779|Q96JW5|Q9H3F7	In_Frame_Del	DEL	ENST00000433922.2	37	CCDS5362.1																																																																																				0.448	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		-	16734496	TGTGGATCATTT	-	16734485	7	5	211	1	0	1	0	1	0	0	0	0	1579	1693	59	0	704	0	BZW2	7	16734485	In_Frame_Del	DEL	TGTGGATCATTT	TCGA-24-1104-01A-01W-0488-09		16734485	142404178	23	12184											
HOXA1	3198	genome.wustl.edu	37	7	27135485	27135485	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr7:27135485C>G	ENST00000343060.4	-	1	108	c.47G>C	c.(46-48)aGc>aCc	p.S16T	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.S16T|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	16					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S16T(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCGCCACTGCTAAGTATGGG	0.582											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	ovary(1)	7											93	102	99					7																	27135485		2203	4300	6503	27102010	SO:0001583	missense	3198				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.47G>C	7.37:g.27135485C>G	ENSP00000343246:p.Ser16Thr	792	27102010	A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	9.912	1.209832	0.22289	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.30714	1.52;1.52	4.62	3.65	0.41850	.	0.311267	0.32785	N	0.005655	T	0.25269	0.0614	L	0.47190	1.495	0.32374	N	0.555498	B;B	0.22211	0.023;0.066	B;B	0.26864	0.007;0.074	T	0.23655	-1.0182	10	0.54805	T	0.06	.	6.6379	0.22893	0.1824:0.7128:0.0:0.1048	.	16;16	P49639;E7ERT8	HXA1_HUMAN;.	T	16	ENSP00000343246:S16T;ENSP00000347851:S16T	ENSP00000343246:S16T	S	-	2	0	HOXA1	27102010	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.232000	0.43018	2.398000	0.81561	0.297000	0.19635	AGC		0.582	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			G	27135485	C	G	27135485	3	3	211	1	0	0	0	0	1	0	0	0	7288	797	28	3	968	3	HOXA1	7	27135485	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09	10401000	27135485	132003178	24	12185											
SLC13A1	6561	genome.wustl.edu	37	7	122809297	122809297	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr7:122809297G>A	ENST00000194130.2	-	4	497	c.458C>T	c.(457-459)gCt>gTt	p.A153V	SLC13A1_ENST00000539873.1_Missense_Mutation_p.A89V	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	153					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.A153V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CTGCACTACAGCCTCCGCAAT	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											158	125	136					7																	122809297		2203	4300	6503	122596533	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.458C>T	7.37:g.122809297G>A	ENSP00000194130:p.Ala153Val		122596533	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358896	0.82353	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.03553	3.89;3.89	5.4	5.4	0.78164	.	0.098410	0.64402	D	0.000001	T	0.24890	0.0604	M	0.91140	3.18	0.80722	D	1	D	0.63880	0.993	D	0.65573	0.936	T	0.04825	-1.0924	10	0.72032	D	0.01	.	18.5178	0.90941	0.0:0.0:1.0:0.0	.	153	Q9BZW2	S13A1_HUMAN	V	153;89	ENSP00000194130:A153V;ENSP00000441309:A89V	ENSP00000194130:A153V	A	-	2	0	SLC13A1	122596533	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	9.783000	0.99037	2.680000	0.91292	0.643000	0.83706	GCT		0.527	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		A	122809297	G	A	122809297	3	1	211	1	0	0	0	0	1	0	0	0	14394	971	34	2	1377	2	SLC13A1	7	122809297	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	95673812	122809297	36329366	25	12186											
CSMD3	114788	genome.wustl.edu	37	8	113504881	113504881	+	Silent	SNP	G	G	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr8:113504881G>T	ENST00000297405.5	-	31	5359	c.5115C>A	c.(5113-5115)ggC>ggA	p.G1705G	CSMD3_ENST00000455883.2_Silent_p.G1601G|CSMD3_ENST00000343508.3_Silent_p.G1665G|CSMD3_ENST00000352409.3_Silent_p.G1705G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1705	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1705G(3)|p.G1665G(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATTATATTGCCTGGATCAA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						5	Substitution - coding silent(5)	lung(4)|ovary(1)	8											145	133	137					8																	113504881		2203	4300	6503	113574057	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5115C>A	8.37:g.113504881G>T			113574057	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113504881	G	T	113504881	2	4	211	1	0	0	0	0	0	0	0	1	3946	1306	46	3		3	CSMD3	8	113504881	Silent	SNP	G	TCGA-24-1104-01A-01W-0488-09		113504881	32859141	26	12187											
TMEM71	137835	genome.wustl.edu	37	8	133764058	133764058	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr8:133764058C>G	ENST00000356838.3	-	4	429	c.287G>C	c.(286-288)aGc>aCc	p.S96T	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96T|TMEM71_ENST00000523829.1_Missense_Mutation_p.S96T	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	96						integral component of membrane (GO:0016021)		p.S96T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATACATAACGCTGGTCTGGGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	8											162	147	152					8																	133764058		2203	4300	6503	133833240	SO:0001583	missense	137835			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.287G>C	8.37:g.133764058C>G	ENSP00000349296:p.Ser96Thr		133833240	Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507332	0.27036	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187	.	.	.	5.95	4.04	0.47022	.	0.208574	0.48767	N	0.000172	T	0.41026	0.1141	M	0.63843	1.955	0.28665	N	0.905938	B;B;B	0.29590	0.126;0.126;0.25	B;B;B	0.27887	0.051;0.035;0.084	T	0.31138	-0.9954	9	0.25106	T	0.35	-0.9598	9.1924	0.37207	0.0:0.647:0.278:0.075	.	96;96;96	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	T	96	.	ENSP00000349296:S96T	S	-	2	0	TMEM71	133833240	0.999000	0.42202	0.990000	0.47175	0.148000	0.21650	1.367000	0.34204	1.507000	0.48752	0.655000	0.94253	AGC		0.403	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		G	133764058	C	G	133764058	3	3	211	1	0	0	0	0	1	0	0	0	16200	797	28	3	628	3	TMEM71	8	133764058	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09	20259177	133764058	12599964	27	12188											
ZNF16	7564	genome.wustl.edu	37	8	146157869	146157869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr8:146157869G>A	ENST00000276816.4	-	4	490	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	ZNF16_ENST00000394909.2_Nonsense_Mutation_p.Q102*	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	102	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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.Q102*(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCGGGTACCTGGGAAACATCA	0.502																																																1	Substitution - Nonsense(1)	ovary(1)	8											108	104	106					8																	146157869		2203	4300	6503	146128673	SO:0001587	stop_gained	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.304C>T	8.37:g.146157869G>A	ENSP00000276816:p.Gln102*		146128673	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Nonsense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331227	0.24167	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	.	.	.	4.17	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	10.9088	0.47097	0.0:0.0:0.8109:0.1891	.	.	.	.	X	102	.	ENSP00000276816:Q102X	Q	-	1	0	ZNF16	146128673	0.940000	0.31905	0.004000	0.12327	0.017000	0.09413	2.811000	0.47986	0.930000	0.37217	0.563000	0.77884	CAG		0.502	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		A	146157869	G	A	146157869	4	1	211	1	0	0	0	0	0	1	0	0	17738	1357	47	2	1748	2	ZNF16	8	146157869	Nonsense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	12393811	146157869	206153	28	12189											
KIAA0020	9933	genome.wustl.edu	37	9	2831319	2831319	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr9:2831319C>G	ENST00000397885.2	-	6	748	c.542G>C	c.(541-543)cGt>cCt	p.R181P	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	181	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R181P(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTGGATCACACGAGTTGAATC	0.338																																																1	Substitution - Missense(1)	ovary(1)	9											108	106	107					9																	2831319		2203	4300	6503	2821319	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.542G>C	9.37:g.2831319C>G	ENSP00000380982:p.Arg181Pro		2821319	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757816	0.89843	.	.	ENSG00000080608	ENST00000397885	T	0.24350	1.86	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	M	0.92604	3.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.974	T	0.71401	-0.4604	10	0.87932	D	0	-8.802	18.8511	0.92230	0.0:1.0:0.0:0.0	.	41;181	B2RDG4;Q15397	.;K0020_HUMAN	P	181	ENSP00000380982:R181P	ENSP00000380982:R181P	R	-	2	0	KIAA0020	2821319	1.000000	0.71417	0.687000	0.30102	0.988000	0.76386	7.037000	0.76531	2.779000	0.95612	0.650000	0.86243	CGT		0.338	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		G	2831319	C	G	2831319	3	3	211	1	0	0	0	0	1	0	0	0	8152	536	19	3	1456	3	KIAA0020	9	2831319	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09		2831319	138382112	29	12190											
UBAP2	55833	genome.wustl.edu	37	9	33986812	33986812	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr9:33986812C>G	ENST00000379238.1	-	6	583	c.466G>C	c.(466-468)Gat>Cat	p.D156H	UBAP2_ENST00000360802.1_Missense_Mutation_p.D156H|UBAP2_ENST00000418786.2_Missense_Mutation_p.D156H|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.D156H|UBAP2_ENST00000539807.1_Intron					ubiquitin associated protein 2									p.D156H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGATTGCAATCAATTCCATTT	0.413																																																1	Substitution - Missense(1)	ovary(1)	9											235	238	237					9																	33986812		2203	4300	6503	33976812	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.466G>C	9.37:g.33986812C>G	ENSP00000368540:p.Asp156His		33976812		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033618	0.75504	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.45	4.56	0.56223	.	0.097410	0.64402	D	0.000002	T	0.56046	0.1959	M	0.79475	2.455	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.993;1.0;0.993;0.999;0.999	D;D;P;D;D	0.72625	0.918;0.978;0.832;0.951;0.969	T	0.61884	-0.6971	10	0.66056	D	0.02	-15.4385	14.4884	0.67634	0.0:0.9287:0.0:0.0713	.	156;81;118;81;156	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	H	156;156;156;118;96;156;156;32	ENSP00000368540:D156H;ENSP00000416932:D156H;ENSP00000354039:D156H;ENSP00000404436:D156H;ENSP00000414800:D156H	ENSP00000354039:D156H	D	-	1	0	UBAP2	33976812	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	4.357000	0.59436	1.287000	0.44583	0.561000	0.74099	GAT		0.413	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		G	33986812	C	G	33986812	3	3	211	1	0	0	0	0	1	0	0	0	16837	826	29	3	2989	3	UBAP2	9	33986812	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09	31155493	33986812	107226619	30	12191											
SLC28A3	64078	genome.wustl.edu	37	9	86900443	86900443	+	Silent	SNP	G	G	A	rs557666022	byFrequency	TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr9:86900443G>A	ENST00000376238.4	-	14	1513	c.1464C>T	c.(1462-1464)taC>taT	p.Y488Y	SLC28A3_ENST00000537648.1_Silent_p.Y419Y|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	488					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.Y488Y(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GCATGAAGATGTAGGAGCAGA	0.428																																					Ovarian(106;425 1539 34835 42413 43572)											1	Substitution - coding silent(1)	ovary(1)	9											84	81	82					9																	86900443		2203	4300	6503	86090263	SO:0001819	synonymous_variant	64078			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1464C>T	9.37:g.86900443G>A			86090263	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	CCDS6670.1																																																																																				0.428	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		A	86900443	G	A	86900443	2	1	211	1	0	0	0	0	0	0	0	1	14536	1372	48	2		2	SLC28A3	9	86900443	Silent	SNP	G	TCGA-24-1104-01A-01W-0488-09	52913631	86900443	54312988	31	12192											
CEP110	11064	genome.wustl.edu	37	9	123931942	123931942	+	Silent	SNP	T	T	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr9:123931942T>C	ENST00000373855.1	+	39	6384	c.6124T>C	c.(6124-6126)Ttg>Ctg	p.L2042L	CNTRL_ENST00000373850.1_Silent_p.L1490L|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Silent_p.L2042L			Q7Z7A1	CNTRL_HUMAN	centriolin	2042	Required for centrosome localization.|Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.L2042L(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGGTGAGCTGTTGGCCCTCCA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	9											98	100	99					9																	123931942		2203	4300	6503	122971763	SO:0001819	synonymous_variant	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6124T>C	9.37:g.123931942T>C			122971763	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	CCDS35118.1																																																																																				0.507	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		C	123931942	T	C	123931942	2	2	211	1	0	0	0	0	0	0	0	1	3245	1722	60	4		4	CEP110	9	123931942	Silent	SNP	T	TCGA-24-1104-01A-01W-0488-09	37031499	123931942	17281489	32	12193											
RABGAP1	23637	genome.wustl.edu	37	9	125746949	125746949	+	Silent	SNP	A	A	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr9:125746949A>C	ENST00000373647.4	+	3	470	c.336A>C	c.(334-336)gtA>gtC	p.V112V		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	112					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.V40V(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGCCATTAGTAGGGCTCCAAA	0.453																																																1	Substitution - coding silent(1)	ovary(1)	9											110	87	95					9																	125746949		2203	4300	6503	124786770	SO:0001819	synonymous_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.336A>C	9.37:g.125746949A>C			124786770	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	CCDS6848.2																																																																																				0.453	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		C	125746949	A	C	125746949	2	2	211	1	0	0	0	0	0	0	0	1	12967	407	15	5		5	RABGAP1	9	125746949	Silent	SNP	A	TCGA-24-1104-01A-01W-0488-09	1815007	125746949	15466482	33	12194											
C10orf140	387640	genome.wustl.edu	37	10	21804166	21804166	+	Silent	SNP	C	C	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr10:21804166C>A	ENST00000449193.2	-	4	4838	c.2586G>T	c.(2584-2586)ggG>ggT	p.G862G	SKIDA1_ENST00000444772.3_Silent_p.G783G	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	781						nucleus (GO:0005634)		p.G862G(1)									GCCACAAATCCCCATCTCTCC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	10											100	92	95					10																	21804166		1870	4108	5978	21844172	SO:0001819	synonymous_variant	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2586G>T	10.37:g.21804166C>A			21844172	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																				0.463	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		A	21804166	C	A	21804166	2	1	211	1	0	0	0	0	0	0	0	1	1595	610	22	3		3	C10orf140	10	21804166	Silent	SNP	C	TCGA-24-1104-01A-01W-0488-09		21804166	113730581	34	12195											
KIAA1217	56243	genome.wustl.edu	37	10	24762210	24762210	+	Silent	SNP	C	C	T	rs200740349		TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr10:24762210C>T	ENST00000376454.3	+	6	930	c.900C>T	c.(898-900)ccC>ccT	p.P300P	KIAA1217_ENST00000376452.3_Silent_p.P300P|KIAA1217_ENST00000396446.1_Silent_p.P18P|KIAA1217_ENST00000430453.2_Silent_p.P221P|KIAA1217_ENST00000376462.1_Silent_p.P220P|KIAA1217_ENST00000376451.2_Silent_p.P18P|KIAA1217_ENST00000396445.1_Silent_p.P18P|KIAA1217_ENST00000307544.6_Silent_p.P18P|KIAA1217_ENST00000458595.1_Silent_p.P300P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	300	Pro-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.P300P(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCCTCGCCCCGGATCTACTG	0.527													C|||	1	0.000199681	8e-04	0	5008	,	,		18607	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	10											79	76	77					10																	24762210		2203	4300	6503	24802216	SO:0001819	synonymous_variant	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.900C>T	10.37:g.24762210C>T			24802216	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																				0.527	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		T	24762210	C	T	24762210	2	4	211	1	0	0	0	0	0	0	0	1	8216	639	23	1		1	KIAA1217	10	24762210	Silent	SNP	C	TCGA-24-1104-01A-01W-0488-09	2958044	24762210	110772537	35	12196											
ERCC6	2074	genome.wustl.edu	37	10	50708699	50708699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr10:50708699G>A	ENST00000355832.5	-	7	1648	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	524	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.Q524*(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCTGCCTGCTGGCAGTGCAAT	0.478								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Nonsense(1)	ovary(1)	10											124	109	114					10																	50708699		2203	4300	6503	50378705	SO:0001587	stop_gained	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1570C>T	10.37:g.50708699G>A	ENSP00000348089:p.Gln524*		50378705	D3DX94|Q5W0L9	Nonsense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	38	7.083549	0.98051	.	.	ENSG00000225830	ENST00000355832	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.9592	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	524	.	ENSP00000348089:Q524X	Q	-	1	0	ERCC6	50378705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.941000	0.99782	0.655000	0.94253	CAG		0.478	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		A	50708699	G	A	50708699	4	1	211	1	0	0	0	0	0	1	0	0	5217	1357	47	2	2971	2	ERCC6	10	50708699	Nonsense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	25946489	50708699	84826048	36	12197											
SYCE1	93426	genome.wustl.edu	37	10	135369332	135369332	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr10:135369332G>T	ENST00000343131.5	-	10	775	c.671C>A	c.(670-672)aCc>aAc	p.T224N	SYCE1_ENST00000432597.2_Missense_Mutation_p.T188N|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.T188N	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	224					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.T188N(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTCATCAAGGGTGGAGGGGCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	10											54	55	55					10																	135369332		2203	4300	6503	135219322	SO:0001583	missense	93426			AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.671C>A	10.37:g.135369332G>T	ENSP00000341282:p.Thr224Asn		135219322	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	G	4.314	0.057593	0.08339	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.40756	1.46;1.02;1.02;3.16	4.12	0.0786	0.14413	.	0.836523	0.10821	N	0.630538	T	0.35998	0.0951	L	0.55481	1.735	0.09310	N	1	P;P;P	0.46784	0.844;0.884;0.557	P;P;B	0.46253	0.447;0.509;0.295	T	0.19257	-1.0311	10	0.33940	T	0.23	-6.1248	1.398	0.02264	0.1942:0.1686:0.4636:0.1736	.	96;224;188	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	N	224;188;188;224	ENSP00000303978:T224N;ENSP00000411779:T188N;ENSP00000357503:T188N;ENSP00000341282:T224N	ENSP00000303978:T224N	T	-	2	0	SYCE1	135219322	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.100000	0.15231	0.015000	0.14971	-0.768000	0.03414	ACC		0.622	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		T	135369332	G	T	135369332	3	4	211	1	0	0	0	0	1	0	0	0	15428	1261	44	3	443	3	SYCE1	10	135369332	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	84660633	135369332	165415	37	12198											
SOX6	55553	genome.wustl.edu	37	11	16340158	16340158	+	Silent	SNP	T	T	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr11:16340158T>G	ENST00000352083.6	-	3	356	c.279A>C	c.(277-279)cgA>cgC	p.R93R	SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000396356.3_Silent_p.R93R|SOX6_ENST00000316399.6_Silent_p.R93R|SOX6_ENST00000527619.1_Silent_p.R96R|SOX6_ENST00000528252.1_Silent_p.R93R|SOX6_ENST00000528429.1_Silent_p.R93R			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	93					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R93R(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TAGAGGTATTTCGGAAGGAAT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	11											119	116	117					11																	16340158		2200	4294	6494	16296734	SO:0001819	synonymous_variant	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.279A>C	11.37:g.16340158T>G			16296734	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37																																																																																					0.408	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		G	16340158	T	G	16340158	2	3	211	1	0	0	0	0	0	0	0	1	14958	1770	62	5		5	SOX6	11	16340158	Silent	SNP	T	TCGA-24-1104-01A-01W-0488-09		16340158	118666358	38	12199											
F2	2147	genome.wustl.edu	37	11	46747441	46747441	+	Missense_Mutation	SNP	C	C	T	rs146671243		TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr11:46747441C>T	ENST00000311907.5	+	7	648	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	F2_ENST00000530231.1_Missense_Mutation_p.R198C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	198		Cleavage; by thrombin.			acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.R198C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GATGACTCCACGCTCCGAAGG	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		19178	0		0	False		,,,				2504	0				Esophageal Squamous(147;1147 1808 2148 38609 51144)											1	Substitution - Missense(1)	ovary(1)	11						C	CYS/ARG	7,4395	11.4+/-27.6	0,7,2194	87	78	81		592	1.5	0	11	dbSNP_134	81	0,8598		0,0,4299	yes	missense	F2	NM_000506.3	180	0,7,6493	TT,TC,CC		0.0,0.159,0.0538	probably-damaging	198/623	46747441	7,12993	2201	4299	6500	46704017	SO:0001583	missense	2147			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.592C>T	11.37:g.46747441C>T	ENSP00000308541:p.Arg198Cys		46704017	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.61|15.61	2.885551|2.885551	0.51908|0.51908	0.00159|0.00159	0.0|0.0	ENSG00000180210|ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468|ENST00000446804	D;D;D|.	0.93811|.	-2.66;-2.87;-3.29|.	4.48|4.48	1.47|1.47	0.22746|0.22746	.|.	0.638690|.	0.16425|.	N|.	0.214981|.	T|T	0.56485|0.56485	0.1988|0.1988	M|M	0.78456|0.78456	2.415|2.415	0.22468|0.22468	N|N	0.999077|0.999077	D|.	0.69078|.	0.997|.	P|.	0.50192|.	0.634|.	T|T	0.51124|0.51124	-0.8745|-0.8745	10|6	0.87932|0.87932	D|D	0|0	.|.	8.3|8.3	0.32008|0.32008	0.5135:0.413:0.0:0.0734|0.5135:0.413:0.0:0.0734	.|.	198|.	P00734|.	THRB_HUMAN|.	C|M	198;198;188|47	ENSP00000308541:R198C;ENSP00000433907:R198C;ENSP00000387413:R188C|.	ENSP00000308541:R198C|ENSP00000406403:T47M	R|T	+|+	1|2	0|0	F2|F2	46704017|46704017	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.143000|0.143000	0.21401|0.21401	0.886000|0.886000	0.28241|0.28241	0.197000|0.197000	0.20387|0.20387	0.591000|0.591000	0.81541|0.81541	CGC|ACG		0.612	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			T	46747441	C	T	46747441	3	4	211	1	0	0	0	0	1	0	0	0	5342	536	19	1	618	1	F2	11	46747441	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09	30407283	46747441	88259075	39	12200											
FAT3	120114	genome.wustl.edu	37	11	92532486	92532486	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr11:92532486A>T	ENST00000298047.6	+	9	6324	c.6307A>T	c.(6307-6309)Att>Ttt	p.I2103F	FAT3_ENST00000409404.2_Missense_Mutation_p.I2103F|FAT3_ENST00000525166.1_Missense_Mutation_p.I1953F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2103	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2103F(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGGACTCTGATTTATCAGGT	0.448										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											50	51	51					11																	92532486		1915	4123	6038	92172134	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6307A>T	11.37:g.92532486A>T	ENSP00000298047:p.Ile2103Phe		92172134	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	15.77	2.931456	0.52866	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.64085	-0.08;-0.08;-0.08	5.9	5.9	0.94986	.	.	.	.	.	T	0.80549	0.4644	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.82709	-0.0323	9	0.56958	D	0.05	.	16.3317	0.83023	1.0:0.0:0.0:0.0	.	2103	Q8TDW7-3	.	F	2103;2103;1953	ENSP00000298047:I2103F;ENSP00000387040:I2103F;ENSP00000432586:I1953F	ENSP00000298047:I2103F	I	+	1	0	FAT3	92172134	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	5.353000	0.66034	2.264000	0.75181	0.533000	0.62120	ATT		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92532486	A	T	92532486	3	4	211	1	0	0	0	0	1	0	0	0	5691	333	12	5	6341	5	FAT3	11	92532486	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09	45785045	92532486	42474030	40	12201											
CCDC15	80071	genome.wustl.edu	37	11	124857709	124857709	+	Silent	SNP	C	C	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr11:124857709C>G	ENST00000344762.5	+	8	1846	c.1587C>G	c.(1585-1587)ggC>ggG	p.G529G	CCDC15_ENST00000529051.1_Silent_p.G529G	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	529			G -> D (in dbSNP:rs4936966).			centrosome (GO:0005813)		p.G529G(1)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AATATCAAGGCCAGGATTTTC	0.403																																																1	Substitution - coding silent(1)	ovary(1)	11											176	168	170					11																	124857709		1808	4079	5887	124362919	SO:0001819	synonymous_variant	80071			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1587C>G	11.37:g.124857709C>G			124362919	Q9H8U7	Silent	SNP	ENST00000344762.5	37	CCDS44756.1																																																																																				0.403	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		G	124857709	C	G	124857709	2	3	211	1	0	0	0	0	0	0	0	1	2784	726	26	3		3	CCDC15	11	124857709	Silent	SNP	C	TCGA-24-1104-01A-01W-0488-09	32325223	124857709	10148807	41	12202											
ITPR2	3709	genome.wustl.edu	37	12	26755416	26755416	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr12:26755416G>T	ENST00000381340.3	-	28	3981	c.3565C>A	c.(3565-3567)Cta>Ata	p.L1189I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1189					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.L1189I(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGTTTACTTAGCCTGATCAAA	0.328																																																1	Substitution - Missense(1)	ovary(1)	12											78	73	74					12																	26755416		1807	4068	5875	26646683	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3565C>A	12.37:g.26755416G>T	ENSP00000370744:p.Leu1189Ile		26646683	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033637	0.75504	.	.	ENSG00000123104	ENST00000381340	D	0.98474	-4.95	5.46	3.61	0.41365	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	L	0.57536	1.79	0.80722	D	1	D	0.62365	0.991	D	0.68039	0.955	D	0.97018	0.9741	10	0.32370	T	0.25	.	10.8047	0.46509	0.2038:0.0:0.7962:0.0	.	1189	Q14571	ITPR2_HUMAN	I	1189	ENSP00000370744:L1189I	ENSP00000370744:L1189I	L	-	1	2	ITPR2	26646683	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.371000	0.44248	1.548000	0.49413	0.655000	0.94253	CTA		0.328	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26755416	G	T	26755416	3	4	211	1	0	0	0	0	1	0	0	0	7921	962	34	3	4660	3	ITPR2	12	26755416	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09		26755416	107096479	42	12203											
CCDC60	160777	genome.wustl.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		19421	0		0	False		,,,				2504	0															3	Substitution - Missense(3)	lung(2)|ovary(1)	12						G	HIS/ARG	0,4406		0,0,2203	224	171	189		392	2.6	0	12	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/551	119916949	1,13005	2203	4300	6503	118401332	SO:0001583	missense	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.392G>A	12.37:g.119916949G>A	ENSP00000333374:p.Arg131His		118401332		Missense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873165	0.33069	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.37411	1.2	4.44	2.62	0.31277	.	0.000000	0.51477	D	0.000083	T	0.27731	0.0682	L	0.52126	1.63	0.09310	N	0.999997	B	0.25667	0.131	B	0.22880	0.042	T	0.14896	-1.0456	9	.	.	.	-7.2754	7.1847	0.25793	0.2043:0.0:0.7957:0.0	.	131	Q8IWA6	CCD60_HUMAN	H	131	ENSP00000333374:R131H	.	R	+	2	0	CCDC60	118401332	0.009000	0.17119	0.026000	0.17262	0.001000	0.01503	0.441000	0.21611	0.612000	0.30071	-0.143000	0.13931	CGC		0.473	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		A	119916949	G	A	119916949	3	1	211	1	0	0	0	0	1	0	0	0	2831	1087	38	1	406	1	CCDC60	12	119916949	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	93161533	119916949	13934946	43	12204											
POLE	5426	genome.wustl.edu	37	12	133201504	133201504	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr12:133201504G>T	ENST00000320574.5	-	48	6777	c.6734C>A	c.(6733-6735)aCc>aAc	p.T2245N	POLE_ENST00000535270.1_Missense_Mutation_p.T2218N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2245					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.T2245N(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGTGTGGATGGTGAGGGCGAA	0.632								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	ovary(1)	12											96	96	96					12																	133201504		2203	4300	6503	131711577	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6734C>A	12.37:g.133201504G>T	ENSP00000322570:p.Thr2245Asn		131711577	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458538	0.43634	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.03124	4.05;4.04;4.05	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	M	0.89840	3.065	0.51767	D	0.999936	P;P	0.44478	0.836;0.552	B;B	0.44044	0.439;0.248	T	0.00984	-1.1491	10	0.41790	T	0.15	.	13.6932	0.62559	0.0736:0.0:0.9264:0.0	.	2245;455	Q07864;B3KS74	DPOE1_HUMAN;.	N	455;2245;2256;215;2218	ENSP00000322570:T2245N;ENSP00000406383:T2256N;ENSP00000445753:T2218N	ENSP00000322473:T215N	T	-	2	0	POLE	131711577	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	4.825000	0.62708	2.609000	0.88269	0.561000	0.74099	ACC		0.632	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		T	133201504	G	T	133201504	3	4	211	1	0	0	0	0	1	0	0	0	12196	1261	44	3	134	3	POLE	12	133201504	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	13284555	133201504	650391	44	12205											
KBTBD6	89890	genome.wustl.edu	37	13	41705167	41705167	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr13:41705167A>C	ENST00000379485.1	-	1	1715	c.1481T>G	c.(1480-1482)aTg>aGg	p.M494R	KBTBD6_ENST00000499385.2_Missense_Mutation_p.M428R	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	494								p.M494R(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAACAGAACATGCGCTTACT	0.448																																																1	Substitution - Missense(1)	ovary(1)	13											75	72	73					13																	41705167		2203	4300	6503	40603167	SO:0001583	missense	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1481T>G	13.37:g.41705167A>C	ENSP00000368799:p.Met494Arg		40603167	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	a	17.03	3.285389	0.59867	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.66995	-0.24;-0.24	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	L	0.34521	1.04	0.46356	D	0.999002	D;D	0.61080	0.989;0.981	P;P	0.56612	0.802;0.567	T	0.69993	-0.4994	10	0.87932	D	0	.	10.7997	0.46480	1.0:0.0:0.0:0.0	.	428;494	F5GZN7;Q86V97	.;KBTB6_HUMAN	R	494;428	ENSP00000368799:M494R;ENSP00000444326:M428R	ENSP00000368799:M494R	M	-	2	0	KBTBD6	40603167	1.000000	0.71417	0.988000	0.46212	0.932000	0.56968	7.300000	0.78841	1.731000	0.51592	0.379000	0.24179	ATG		0.448	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		C	41705167	A	C	41705167	3	2	211	1	0	0	0	0	1	0	0	0	7997	217	8	5	547	5	KBTBD6	13	41705167	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09		41705167	73464711	45	12206											
HTR2A	3356	genome.wustl.edu	37	13	47466582	47466582	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr13:47466582A>G	ENST00000378688.4	-	2	687	c.556T>C	c.(556-558)Ttc>Ctc	p.F186L	HTR2A_ENST00000543956.1_Missense_Mutation_p.F102L|HTR2A_ENST00000542664.1_Missense_Mutation_p.F186L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	186					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F186L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGGAGTTGAAGCGGCTGTGG	0.493																																																1	Substitution - Missense(1)	ovary(1)	13											279	278	278					13																	47466582		2203	4300	6503	46364583	SO:0001583	missense	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.556T>C	13.37:g.47466582A>G	ENSP00000367959:p.Phe186Leu		46364583	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	A	34	5.320933	0.95682	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.70749	2.81;-0.51;2.81	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.052322	0.85682	D	0.000000	T	0.69949	0.3168	N	0.21194	0.64	0.58432	D	0.999993	P;D	0.56287	0.93;0.975	P;P	0.60886	0.669;0.88	T	0.64575	-0.6375	10	0.08381	T	0.77	.	15.9872	0.80168	1.0:0.0:0.0:0.0	.	102;186	F5GWE8;P28223	.;5HT2A_HUMAN	L	186;102;186	ENSP00000367959:F186L;ENSP00000441861:F102L;ENSP00000437737:F186L	ENSP00000367959:F186L	F	-	1	0	HTR2A	46364583	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.348000	0.79366	2.367000	0.80283	0.528000	0.53228	TTC		0.493	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		G	47466582	A	G	47466582	3	3	211	1	0	0	0	0	1	0	0	0	7441	72	3	4	867	4	HTR2A	13	47466582	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09	5761415	47466582	67703296	46	12207											
MED4	29079	genome.wustl.edu	37	13	48664501	48664501	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr13:48664501C>A	ENST00000258648.2	-	2	204	c.179G>T	c.(178-180)gGa>gTa	p.G60V	MED4_ENST00000378586.1_Missense_Mutation_p.G14V	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	60					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G60V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		GTTTTCCTCTCCAGCCTGTAA	0.303																																					Pancreas(38;399 1016 9170 13426 20145)											1	Substitution - Missense(1)	ovary(1)	13											123	142	135					13																	48664501		2203	4300	6503	47562502	SO:0001583	missense	29079			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"vitamin D receptor interacting protein", "mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.179G>T	13.37:g.48664501C>A	ENSP00000258648:p.Gly60Val		47562502	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915088	0.33815	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	6.17	2.3	0.28687	.	0.148370	0.64402	D	0.000008	T	0.42200	0.1192	L	0.39898	1.24	0.80722	D	1	B;B	0.19706	0.038;0.0	B;B	0.13407	0.009;0.002	T	0.16364	-1.0405	9	0.31617	T	0.26	-10.8346	6.3636	0.21443	0.1267:0.6565:0.0:0.2168	.	38;60	E9PDW1;Q9NPJ6	.;MED4_HUMAN	V	60;38;14;38	.	ENSP00000258648:G60V	G	-	2	0	MED4	47562502	1.000000	0.71417	0.990000	0.47175	0.581000	0.36288	2.594000	0.46189	0.429000	0.26202	0.655000	0.94253	GGA		0.303	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		A	48664501	C	A	48664501	3	1	211	1	0	0	0	0	1	0	0	0	9450	855	30	3	657	3	MED4	13	48664501	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09	1197919	48664501	66505377	47	12208											
C14orf93	60686	genome.wustl.edu	37	14	23465339	23465339	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr14:23465339G>C	ENST00000299088.6	-	3	1165	c.736C>G	c.(736-738)Ctg>Gtg	p.L246V	RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.L246V|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.L246V|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397377.1_Missense_Mutation_p.L66V|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.L246V|C14orf93_ENST00000341470.4_Missense_Mutation_p.L246V	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	246						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)	p.L246V(1)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GGTGGTGGCAGCTTGGTTCCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	14											134	109	117					14																	23465339		2203	4300	6503	22535179	SO:0001583	missense	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.736C>G	14.37:g.23465339G>C	ENSP00000299088:p.Leu246Val		22535179	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448970	0.63178	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429;ENST00000397376	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.19	3.37	0.38596	.	0.145037	0.32593	N	0.005896	T	0.35624	0.0938	N	0.24115	0.695	0.27877	N	0.939823	D;D	0.54207	0.965;0.965	P;P	0.50162	0.534;0.633	T	0.16808	-1.0390	10	0.66056	D	0.02	-11.8896	9.2415	0.37500	0.1689:0.0:0.8311:0.0	.	246;246	Q9H972;Q9H972-2	CN093_HUMAN;.	V	246;246;246;246;66;246;66	ENSP00000299088:L246V;ENSP00000341353:L246V;ENSP00000380535:L246V;ENSP00000380538:L246V;ENSP00000380533:L66V;ENSP00000384768:L246V;ENSP00000380532:L66V	ENSP00000299088:L246V	L	-	1	2	C14orf93	22535179	0.998000	0.40836	0.996000	0.52242	0.994000	0.84299	0.943000	0.29030	0.789000	0.33779	-0.119000	0.15052	CTG		0.607	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		C	23465339	G	C	23465339	3	2	211	1	0	0	0	0	1	0	0	0	1782	962	34	3	900	3	C14orf93	14	23465339	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09		23465339	83884201	48	12209											
SHF	90525	genome.wustl.edu	37	15	45464501	45464501	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr15:45464501G>T	ENST00000290894.8	-	6	1303	c.809C>A	c.(808-810)cCg>cAg	p.P270Q	SHF_ENST00000318390.6_Missense_Mutation_p.P280Q|SHF_ENST00000560471.1_Missense_Mutation_p.P335Q|SHF_ENST00000560540.1_Missense_Mutation_p.P288Q|SHF_ENST00000458022.2_Missense_Mutation_p.P86Q|SHF_ENST00000560734.1_Intron|SHF_ENST00000561091.1_5'Flank|RP11-519G16.2_ENST00000560034.1_RNA	NM_138356.2	NP_612365			Src homology 2 domain containing F									p.P270Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GCTCTTCTCCGGTCCTTCAAA	0.582																																																1	Substitution - Missense(1)	ovary(1)	15											30	34	33					15																	45464501		2198	4298	6496	43251793	SO:0001583	missense	90525			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"SH2 domain containing"	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000290894.8:c.809C>A	15.37:g.45464501G>T	ENSP00000290894:p.Pro270Gln		43251793		Missense_Mutation	SNP	ENST00000290894.8	37	CCDS10120.2	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323377	0.24080	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000458022;ENST00000413198	T;T;T	0.31247	1.5;1.5;1.5	4.06	3.12	0.35913	.	1.124360	0.06298	N	0.700406	T	0.26593	0.0650	L	0.29908	0.895	0.19300	N	0.999979	P;B;P;B	0.37141	0.584;0.041;0.507;0.19	B;B;B;B	0.40636	0.319;0.041;0.335;0.086	T	0.16012	-1.0417	10	0.21540	T	0.41	-0.9081	9.0493	0.36367	0.1115:0.0:0.8885:0.0	.	133;213;280;270	Q8N9I8;E7EWB7;F8W6K9;Q7M4L6	.;.;.;SHF_HUMAN	Q	270;270;280;86;213	ENSP00000290894:P270Q;ENSP00000315978:P280Q;ENSP00000411530:P86Q	ENSP00000290894:P270Q	P	-	2	0	SHF	43251793	0.051000	0.20477	0.994000	0.49952	0.987000	0.75469	1.661000	0.37408	1.976000	0.57569	0.563000	0.77884	CCG		0.582	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254141.2	NM_138356		T	45464501	G	T	45464501	3	4	211	1	0	0	0	0	1	0	0	0	14280	1116	39	3	474	3	SHF	15	45464501	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09		45464501	57066891	49	12210											
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	211	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09		7578265	73616945	50	12211											
HOXB1	3211	genome.wustl.edu	37	17	46608035	46608035	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr17:46608035T>A	ENST00000239174.6	-	1	324	c.232A>T	c.(232-234)Agc>Tgc	p.S78C	HOXB1_ENST00000577092.1_Missense_Mutation_p.S78C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	78					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.S78C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCGCGGAGCTGGGGAAGGGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	17											36	42	40					17																	46608035		2203	4297	6500	43963034	SO:0001583	missense	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.232A>T	17.37:g.46608035T>A	ENSP00000355140:p.Ser78Cys		43963034	Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696485	0.48202	.	.	ENSG00000120094	ENST00000239174	D	0.89939	-2.59	4.57	4.57	0.56435	.	0.000000	0.52532	D	0.000073	D	0.84365	0.5456	L	0.51914	1.62	0.25838	N	0.984093	B	0.12630	0.006	B	0.08055	0.003	T	0.76743	-0.2847	10	0.59425	D	0.04	.	9.0846	0.36572	0.2061:0.0:0.0:0.7939	.	78	P14653	HXB1_HUMAN	C	78	ENSP00000355140:S78C	ENSP00000355140:S78C	S	-	1	0	HOXB1	43963034	0.011000	0.17503	1.000000	0.80357	0.946000	0.59487	0.781000	0.26774	1.920000	0.55613	0.450000	0.29827	AGC		0.672	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			A	46608035	T	A	46608035	3	1	211	1	0	0	0	0	1	0	0	0	7299	1580	55	5	681	5	HOXB1	17	46608035	Missense_Mutation	SNP	T	TCGA-24-1104-01A-01W-0488-09	39029770	46608035	34587175	51	12212											
CA4	762	genome.wustl.edu	37	17	58235707	58235708	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	GG	GG	GG	TC	GG	GG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr17:58235707_58235708GG>TC	ENST00000300900.4	+	7	743_744	c.644_645GG>TC	c.(643-645)aGG>aTC	p.R215I		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	215					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GAGAAACTGAGGCACTACTTCC	0.579																																																0			17																																								55590490	SO:0001583	missense	762			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		Exception_encountered	17.37:g.58235707_58235708delinsTC	ENSP00000300900:p.Arg215Ile		55590489	B4DQA4|Q6FHI7	Missense_Mutation	DNP	ENST00000300900.4	37	CCDS11624.1																																																																																				0.579	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		TC	58235708	GG	TC	58235707	3	4	211	1	0	0	0	0	1	0	0	0	2518	1000	35	3	670	3	CA4	17	58235707	Missense_Mutation	DNP	GG	TCGA-24-1104-01A-01W-0488-09	11627672	58235707	22959503	52	12213											
ABCA6	23460	genome.wustl.edu	37	17	67077281	67077281	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr17:67077281G>T	ENST00000284425.2	-	37	4796	c.4622C>A	c.(4621-4623)tCc>tAc	p.S1541Y	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1541					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1541Y(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAACAAAGAGGAATACCTGAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	17											86	88	87					17																	67077281		2203	4300	6503	64588876	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4622C>A	17.37:g.67077281G>T	ENSP00000284425:p.Ser1541Tyr		64588876	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761550	0.31228	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.84146	-1.81	5.26	0.969	0.19686	.	0.705472	0.12772	N	0.440488	D	0.90442	0.7007	M	0.88105	2.93	0.09310	N	0.999992	D	0.61697	0.99	P	0.61201	0.885	T	0.80165	-0.1496	10	0.87932	D	0	.	4.5742	0.12225	0.262:0.0:0.5827:0.1553	.	1541	Q8N139	ABCA6_HUMAN	Y	1541;401	ENSP00000284425:S1541Y	ENSP00000284425:S1541Y	S	-	2	0	ABCA6	64588876	0.016000	0.18221	0.001000	0.08648	0.214000	0.24535	1.861000	0.39438	0.065000	0.16485	0.655000	0.94253	TCC		0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		T	67077281	G	T	67077281	3	4	211	1	0	0	0	0	1	0	0	0	36	1174	41	3	243	3	ABCA6	17	67077281	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09	8841574	67077281	14117929	53	12214											
ZNF799	90576	genome.wustl.edu	37	19	12502419	12502419	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr19:12502419A>G	ENST00000430385.3	-	4	993	c.793T>C	c.(793-795)Tac>Cac	p.Y265H	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.Y233H	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y52H(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CAAGAACTGTAATCAGGGAAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	19											102	105	104					19																	12502419		2203	4299	6502	12363419	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.793T>C	19.37:g.12502419A>G	ENSP00000411084:p.Tyr265His		12363419		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	A	9.709	1.156635	0.21454	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.14893	2.47;2.47	1.31	-0.223	0.13118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	N	0.03268	-0.37	0.09310	N	1	P	0.37500	0.597	P	0.47705	0.555	T	0.33394	-0.9870	9	0.19590	T	0.45	.	3.3356	0.07100	0.4844:0.0:0.5156:0.0	.	265	Q96GE5	ZN799_HUMAN	H	233;265	ENSP00000415278:Y233H;ENSP00000411084:Y265H	ENSP00000415278:Y233H	Y	-	1	0	ZNF799	12363419	0.000000	0.05858	0.001000	0.08648	0.940000	0.58332	-0.938000	0.03938	-0.057000	0.13199	0.352000	0.21897	TAC		0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		G	12502419	A	G	12502419	3	3	211	1	0	0	0	0	1	0	0	0	18166	362	13	4	1142	4	ZNF799	19	12502419	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09		12502419	46626564	54	12215											
PTPRT	11122	genome.wustl.edu	37	20	40714466	40714466	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr20:40714466T>C	ENST00000373187.1	-	28	3873	c.3874A>G	c.(3874-3876)Acc>Gcc	p.T1292A	PTPRT_ENST00000373184.1_Missense_Mutation_p.T1302A|PTPRT_ENST00000373190.1_Missense_Mutation_p.T1291A|PTPRT_ENST00000356100.2_Missense_Mutation_p.T1301A|PTPRT_ENST00000373198.4_Missense_Mutation_p.T1311A|PTPRT_ENST00000373193.3_Missense_Mutation_p.T1295A|PTPRT_ENST00000373201.1_Missense_Mutation_p.T1282A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1292	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.T1314A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCGGAGGTCTTCTCAGGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	20											72	74	73					20																	40714466		1943	4139	6082	40147880	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3874A>G	20.37:g.40714466T>C	ENSP00000362283:p.Thr1292Ala		40147880	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.561626	0.45590	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.31	5.31	0.75309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.113243	0.64402	D	0.000011	T	0.13372	0.0324	N	0.25825	0.765	0.44417	D	0.997339	B;B	0.24258	0.1;0.072	B;B	0.30029	0.067;0.11	T	0.06215	-1.0839	10	0.66056	D	0.02	.	15.4285	0.75072	0.0:0.0:0.0:1.0	.	1314;1292	O14522-1;O14522	.;PTPRT_HUMAN	A	1291;1292;1295;1301;1314;1302;1282	ENSP00000362286:T1291A;ENSP00000362283:T1292A;ENSP00000362289:T1295A;ENSP00000348408:T1301A;ENSP00000362294:T1314A;ENSP00000362280:T1302A;ENSP00000362297:T1282A	ENSP00000348408:T1301A	T	-	1	0	PTPRT	40147880	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	2.539000	0.45718	2.232000	0.73038	0.533000	0.62120	ACC		0.522	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			C	40714466	T	C	40714466	3	2	211	1	0	0	0	0	1	0	0	0	12815	1667	58	4	467	4	PTPRT	20	40714466	Missense_Mutation	SNP	T	TCGA-24-1104-01A-01W-0488-09		40714466	22311054	55	12216											
SLCO4A1	28231	genome.wustl.edu	37	20	61291851	61291851	+	Silent	SNP	C	C	T	rs572345402		TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr20:61291851C>T	ENST00000370507.1	+	3	1071	c.975C>T	c.(973-975)gcC>gcT	p.A325A	RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000217159.1_Silent_p.A325A|RP11-93B14.5_ENST00000451648.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	325					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A325A(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCTTCACCGCCGTTCCCATCC	0.652													C|||	1	0.000199681	0	0.0014	5008	,	,		16133	0		0	False		,,,				2504	0				Pancreas(168;741 2006 10379 40139 45334)											1	Substitution - coding silent(1)	ovary(1)	20											75	71	72					20																	61291851		2203	4300	6503	60762296	SO:0001819	synonymous_variant	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.975C>T	20.37:g.61291851C>T			60762296	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	CCDS13501.1																																																																																				0.652	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		T	61291851	C	T	61291851	2	4	211	1	0	0	0	0	0	0	0	1	14732	639	23	1		1	SLCO4A1	20	61291851	Silent	SNP	C	TCGA-24-1104-01A-01W-0488-09	20577385	61291851	1733669	56	12217											
C21orf7	56911	genome.wustl.edu	37	21	30532351	30532351	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr21:30532351G>C	ENST00000399947.2	+	8	799	c.522G>C	c.(520-522)aaG>aaC	p.K174N	MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.K74N|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.K74N|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.K68N|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.K174N|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.K74N|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.K74N|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.K74N|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.K74N	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	174						cytosol (GO:0005829)|nucleus (GO:0005634)		p.K174N(1)									AGGTCAAAAAGGAAATCACCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	21											167	141	150					21																	30532351		2203	4300	6503	29454222	SO:0001583	missense	56911			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.522G>C	21.37:g.30532351G>C	ENSP00000382828:p.Lys174Asn		29454222	D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605061	0.46423	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925;ENST00000451489	T;T	0.48836	0.8;0.8	4.65	-1.58	0.08479	.	0.186457	0.45126	D	0.000396	T	0.55289	0.1911	L	0.47716	1.5	0.40466	D	0.980299	D;D	0.71674	0.998;0.996	D;P	0.68943	0.961;0.856	T	0.55438	-0.8141	10	0.66056	D	0.02	-13.4452	12.208	0.54363	0.3538:0.0:0.6462:0.0	.	74;174	B0EVZ8;P57077	.;TAK1L_HUMAN	N	68;174;74;74;174;74;74;74;74;74	ENSP00000343212:K174N;ENSP00000382828:K174N	ENSP00000345777:K74N	K	+	3	2	C21orf7	29454222	0.979000	0.34478	0.934000	0.37439	0.892000	0.51952	0.143000	0.16115	-0.442000	0.07190	-0.793000	0.03317	AAG		0.522	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		C	30532351	G	C	30532351	3	2	211	1	0	0	0	0	1	0	0	0	2132	991	35	3	544	3	C21orf7	21	30532351	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09		30532351	17597544	57	12218											
CECR2	27443	genome.wustl.edu	37	22	18016909	18016909	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr22:18016909A>G	ENST00000400585.2	+	10	1175	c.737A>G	c.(736-738)aAg>aGg	p.K246R	CECR2_ENST00000342247.5_Missense_Mutation_p.K359R|CECR2_ENST00000400573.5_Missense_Mutation_p.K387R|CECR2_ENST00000262608.8_Missense_Mutation_p.K388R			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	429					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.K387R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAGGAAAAAAAGACTAAAGAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	22											95	97	97					22																	18016909		1886	4106	5992	16396909	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.737A>G	22.37:g.18016909A>G	ENSP00000383428:p.Lys246Arg		16396909	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	A	6.439	0.449086	0.12223	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.33	3.16	0.36331	Bromodomain (1);	0.338021	0.25130	N	0.032905	T	0.04543	0.0124	N	0.00926	-1.1	0.28032	N	0.934099	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.39583	-0.9607	10	0.10636	T	0.68	-21.2464	7.936	0.29931	0.6602:0.0:0.3398:0.0	.	429;246;387	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	R	359;246;387;388	ENSP00000341219:K359R;ENSP00000383428:K246R;ENSP00000383417:K387R;ENSP00000262608:K388R	ENSP00000262608:K388R	K	+	2	0	CECR2	16396909	0.991000	0.36638	0.776000	0.31678	0.675000	0.39556	0.421000	0.21280	0.453000	0.26858	0.482000	0.46254	AAG		0.473	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		G	18016909	A	G	18016909	3	3	211	1	0	0	0	0	1	0	0	0	3206	72	3	4	1196	4	CECR2	22	18016909	Missense_Mutation	SNP	A	TCGA-24-1104-01A-01W-0488-09		18016909	33287657	58	12219											
UPB1	51733	genome.wustl.edu	37	22	24919597	24919597	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chr22:24919597C>G	ENST00000326010.5	+	9	1271	c.927C>G	c.(925-927)gaC>gaG	p.D309E	UPB1_ENST00000413389.2_Missense_Mutation_p.D241E|UPB1_ENST00000498140.1_3'UTR	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	309	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.D309E(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CTCACCAGGACTTTGGCTACT	0.562																																																1	Substitution - Missense(1)	ovary(1)	22											106	98	101					22																	24919597		2203	4300	6503	23249597	SO:0001583	missense	51733			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.927C>G	22.37:g.24919597C>G	ENSP00000324343:p.Asp309Glu		23249597	A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419574	0.25552	.	.	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.86297	-2.1;-2.1	5.54	1.09	0.20402	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.043942	0.85682	N	0.000000	T	0.79499	0.4456	L	0.55017	1.72	0.58432	D	0.999999	B;B	0.27679	0.185;0.034	B;B	0.24394	0.053;0.029	T	0.69950	-0.5006	10	0.31617	T	0.26	-5.8975	5.6132	0.17416	0.0:0.4774:0.2575:0.2651	.	309;241	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	E	241;309	ENSP00000406057:D241E;ENSP00000324343:D309E	ENSP00000324343:D309E	D	+	3	2	UPB1	23249597	0.979000	0.34478	0.979000	0.43373	0.218000	0.24690	0.094000	0.15107	0.688000	0.31529	-0.176000	0.13171	GAC		0.562	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			G	24919597	C	G	24919597	3	3	211	1	0	0	0	0	1	0	0	0	17002	564	20	3	961	3	UPB1	22	24919597	Missense_Mutation	SNP	C	TCGA-24-1104-01A-01W-0488-09	6902688	24919597	26384969	59	12220											
GPR112	139378	genome.wustl.edu	37	X	135428708	135428708	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1104-01A-01W-0488-09	TCGA-24-1104-10A-01W-0488-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	9cdb7821-fe43-46cd-94f3-b9d68b9ce21f	10ce2c8a-a622-4457-9b5e-e464b260270a	g.chrX:135428708G>A	ENST00000394143.1	+	6	3134	c.2843G>A	c.(2842-2844)gGa>gAa	p.G948E	GPR112_ENST00000370652.1_Missense_Mutation_p.G948E|GPR112_ENST00000412101.1_Missense_Mutation_p.G743E|GPR112_ENST00000394141.1_Missense_Mutation_p.G743E|GPR112_ENST00000287534.4_Missense_Mutation_p.G885E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	948					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G948E(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACATCTGAGGGAATTTCAGCT	0.433																																																1	Substitution - Missense(1)	ovary(1)	X											150	144	146					X																	135428708		2203	4300	6503	135256374	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2843G>A	X.37:g.135428708G>A	ENSP00000377699:p.Gly948Glu		135256374	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	9.209	1.030545	0.19512	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.55052	0.58;0.58;0.54;0.62;0.54	2.46	2.46	0.29980	.	.	.	.	.	T	0.56775	0.2008	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.38607	-0.9653	9	0.49607	T	0.09	.	7.7423	0.28848	0.0:0.0:1.0:0.0	.	885;743;948	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	E	948;948;743;885;743	ENSP00000377699:G948E;ENSP00000359686:G948E;ENSP00000416526:G743E;ENSP00000287534:G885E;ENSP00000377697:G743E	ENSP00000287534:G885E	G	+	2	0	GPR112	135256374	0.376000	0.25098	0.026000	0.17262	0.120000	0.20174	1.456000	0.35201	1.530000	0.49136	0.179000	0.17066	GGA		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135428708	G	A	135428708	3	1	211	1	0	0	0	0	1	0	0	0	6629	1174	41	2	2853	2	GPR112	23	135428708	Missense_Mutation	SNP	G	TCGA-24-1104-01A-01W-0488-09		135428708	19841852	60	12221											
VPS13D	55187	hgsc.bcm.edu	37	1	12313802	12313802	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr1:12313802G>T	ENST00000358136.3	+	7	718	c.588G>T	c.(586-588)aaG>aaT	p.K196N	VPS13D_ENST00000356315.4_Missense_Mutation_p.K196N	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.K196N(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCGGAAAAAGCAATTAGACG	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											157	147	150					1																	12313802		2203	4300	6503	12236389	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.588G>T	1.37:g.12313802G>T	ENSP00000350854:p.Lys196Asn		12236389		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904967	0.72868	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.63913	-0.07;-0.07	5.48	-0.302	0.12796	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.75484	0.889;0.986	T	0.75062	-0.3450	10	0.62326	D	0.03	.	11.1559	0.48486	0.4983:0.0:0.5017:0.0	.	196;196	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	N	196	ENSP00000348666:K196N;ENSP00000350854:K196N	ENSP00000348666:K196N	K	+	3	2	VPS13D	12236389	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	0.867000	0.27968	0.025000	0.15241	0.650000	0.86243	AAG		0.398	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12313802	G	T	12313802	3	4	212	1	0	0	0	0	1	0	0	0	17192	962	34	3	610	3	VPS13D	1	12313802	Missense_Mutation	SNP	G	TCGA-24-1105-01A-01W-0484-10		12313802	236936819	1	12222											
MYOM3	127294	hgsc.bcm.edu	37	1	24433676	24433676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr1:24433676G>A	ENST00000374434.3	-	4	451	c.289C>T	c.(289-291)Cga>Tga	p.R97*	MYOM3_ENST00000330966.7_Nonsense_Mutation_p.R98*|MYOM3_ENST00000329601.7_Nonsense_Mutation_p.R97*|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	97						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.R97*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTCTGCCCTCGCTCCTCCAGC	0.677																																																1	Substitution - Nonsense(1)	ovary(1)	1											29	32	31					1																	24433676		1997	4179	6176	24306263	SO:0001587	stop_gained	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.289C>T	1.37:g.24433676G>A	ENSP00000363557:p.Arg97*		24306263	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Nonsense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	38	7.119918	0.98077	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	.	.	.	4.98	2.94	0.34122	.	0.173630	0.37715	N	0.001980	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6407	0.45592	0.0:0.0:0.5494:0.4506	.	.	.	.	X	97;98;97	.	ENSP00000328415:R97X	R	-	1	2	MYOM3	24306263	0.999000	0.42202	0.996000	0.52242	0.993000	0.82548	0.948000	0.29096	1.209000	0.43321	0.561000	0.74099	CGA		0.677	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		A	24433676	G	A	24433676	4	1	212	1	0	0	0	0	0	1	0	0	10093	1095	38	1	4160	1	MYOM3	1	24433676	Nonsense_Mutation	SNP	G	TCGA-24-1105-01A-01W-0484-10	12119874	24433676	224816945	2	12223											
CACNA1E	777	hgsc.bcm.edu	37	1	181740453	181740453	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr1:181740453G>A	ENST00000367573.2	+	36	4906	c.4906G>A	c.(4906-4908)Gag>Aag	p.E1636K	RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1243K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1587K|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E1617K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1617K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1568K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1636K	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1636					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.E1636K(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAATTAGACGAGGAGAGTCA	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											96	88	91					1																	181740453		1931	4124	6055	180007076	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4906G>A	1.37:g.181740453G>A	ENSP00000356545:p.Glu1636Lys		180007076	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.847394	0.97023	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	5.61	5.61	0.85477	Ion transport (1);	0.089852	0.85682	D	0.000000	D	0.98046	0.9356	L	0.45744	1.44	0.80722	D	1	P;D;D	0.65815	0.949;0.989;0.995	P;P;P	0.59825	0.582;0.864;0.749	D	0.97171	0.9844	10	0.24483	T	0.36	.	19.5968	0.95544	0.0:0.0:1.0:0.0	.	1617;1636;1636	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	K	1636;1617;1587;1568;1243;1617;1636	ENSP00000356542:E1636K;ENSP00000434814:E1617K;ENSP00000350183:E1587K;ENSP00000351101:E1568K;ENSP00000356539:E1243K;ENSP00000353222:E1617K;ENSP00000356545:E1636K	ENSP00000350183:E1587K	E	+	1	0	CACNA1E	180007076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.675000	0.98638	2.793000	0.96121	0.655000	0.94253	GAG		0.458	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181740453	G	A	181740453	3	1	212	1	0	0	0	0	1	0	0	0	2542	1059	37	1	5048	1	CACNA1E	1	181740453	Missense_Mutation	SNP	G	TCGA-24-1105-01A-01W-0484-10	157306777	181740453	67510168	3	12224											
SMYD2	56950	hgsc.bcm.edu	37	1	214491481	214491481	+	Splice_Site	SNP	A	A	G			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr1:214491481A>G	ENST00000366957.5	+	4	430	c.408A>G	c.(406-408)tcA>tcG	p.S136S	SMYD2_ENST00000415093.2_Splice_Site_p.S136S|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	136	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)	p.S136S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AGTTTGAATCACGTAAGTCTT	0.463																																																1	Substitution - coding silent(1)	ovary(1)	1											98	101	100					1																	214491481		2203	4300	6503	212558104	SO:0001630	splice_region_variant	56950			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.409+1A>G	1.37:g.214491481A>G			212558104	B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Silent	SNP	ENST00000366957.5	37	CCDS31022.1																																																																																				0.463	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197	Silent	G	214491481	A	G	214491481	5	3	212	1	0	0	0	0	0	0	1	0	14825	173	6	4	422	4	SMYD2	1	214491481	Splice_Site	SNP	A	TCGA-24-1105-01A-01W-0484-10	32751028	214491481	34759140	4	12225											
OR2T3	343173	hgsc.bcm.edu	37	1	248637193	248637194	+	Frame_Shift_Ins	INS	-	-	T			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr1:248637193_248637194insT	ENST00000359594.2	+	1	567_568	c.542_543insT	c.(541-546)agttttfs	p.SF181fs		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S181T(1)|p.C184fs*2(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAATCCTGAGTTTTTTCTGTG	0.525																																																2	Substitution - Missense(1)|Insertion - Frameshift(1)	ovary(1)|lung(1)	1																																								246703817	SO:0001589	frameshift_variant	343173				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.548dupT	1.37:g.248637199_248637199dupT	ENSP00000352604:p.Ser181fs		246703816	B2RNJ1	Frame_Shift_Ins	INS	ENST00000359594.2	37	CCDS31117.1																																																																																				0.525	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		T	248637194	-	T	248637193	7	5	212	1	0	1	1	0	0	0	0	0	11023	1029	36	0	544	0	OR2T3	1	248637193	Frame_Shift_Ins	INS	-	TCGA-24-1105-01A-01W-0484-10	34145712	248637193	613428	5	12226											
LCLAT1	253558	hgsc.bcm.edu	37	2	30863099	30863099	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr2:30863099C>T	ENST00000309052.4	+	7	1068	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	LCLAT1_ENST00000379509.3_Missense_Mutation_p.R249W|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R249W	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	287					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R287W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TCACGTCCACCGGTATCCAAT	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											96	92	93					2																	30863099		2203	4300	6503	30716603	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.859C>T	2.37:g.30863099C>T	ENSP00000310551:p.Arg287Trp		30716603	A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192263	0.38707	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.41758	0.99;0.99;0.99	5.77	2.63	0.31362	.	0.098864	0.64402	D	0.000002	T	0.68430	0.3000	M	0.88241	2.94	0.53688	D	0.999974	D	0.89917	1.0	D	0.85130	0.997	T	0.76187	-0.3051	10	0.72032	D	0.01	-18.7519	14.6333	0.68671	0.5279:0.4721:0.0:0.0	.	287	Q6UWP7	LCLT1_HUMAN	W	249;249;287;249	ENSP00000368823:R249W;ENSP00000310551:R287W;ENSP00000442857:R249W	ENSP00000310551:R287W	R	+	1	2	LCLAT1	30716603	0.803000	0.28956	0.233000	0.24025	0.059000	0.15707	1.579000	0.36536	0.750000	0.32877	0.557000	0.71058	CGG		0.507	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		T	30863099	C	T	30863099	3	4	212	1	0	0	0	0	1	0	0	0	8677	643	23	1	881	1	LCLAT1	2	30863099	Missense_Mutation	SNP	C	TCGA-24-1105-01A-01W-0484-10		30863099	212336274	6	12227											
MCM2	4171	hgsc.bcm.edu	37	3	127339643	127339643	+	Missense_Mutation	SNP	G	G	A	rs369079696		TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr3:127339643G>A	ENST00000265056.7	+	14	2612	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	790					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.D790N(1)		ovary(3)|skin(2)|stomach(1)	6						GATCGAAGACGACGTCAACAT	0.597																																																1	Substitution - Missense(1)	ovary(1)	3						G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	121	105	111		2368	5.7	0.8	3		111	0,8600		0,0,4300	no	missense	MCM2	NM_004526.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	790/905	127339643	1,13005	2203	4300	6503	128822333	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2368G>A	3.37:g.127339643G>A	ENSP00000265056:p.Asp790Asn		128822333	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633759	0.87660	2.27E-4	0.0	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.16897	2.31	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	H	0.98089	4.145	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.81914	0.799;0.991;0.995	T	0.76924	-0.2779	10	0.87932	D	0	-46.746	19.9	0.96981	0.0:0.0:1.0:0.0	.	840;660;790	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	N	790;694;840	ENSP00000265056:D790N	ENSP00000265056:D790N	D	+	1	0	MCM2	128822333	1.000000	0.71417	0.844000	0.33320	0.172000	0.22775	9.223000	0.95203	2.698000	0.92095	0.650000	0.86243	GAC		0.597	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			A	127339643	G	A	127339643	3	1	212	1	0	0	0	0	1	0	0	0	9386	1058	37	1	2422	1	MCM2	3	127339643	Missense_Mutation	SNP	G	TCGA-24-1105-01A-01W-0484-10		127339643	70682787	7	12228											
COL12A1	1303	hgsc.bcm.edu	37	6	75855866	75855866	+	Silent	SNP	G	G	A			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr6:75855866G>A	ENST00000322507.8	-	24	4821	c.4512C>T	c.(4510-4512)atC>atT	p.I1504I	COL12A1_ENST00000483888.2_Silent_p.I1504I|COL12A1_ENST00000345356.6_Silent_p.I340I|COL12A1_ENST00000416123.2_Silent_p.I1504I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1504	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.I1504I(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTATGACAAGATGTAGCCAG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	6											98	98	98					6																	75855866		1965	4170	6135	75912586	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4512C>T	6.37:g.75855866G>A			75912586	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569611	0.28003	.	.	ENSG00000111799	ENST00000419671	.	.	.	5.19	-2.47	0.06442	.	.	.	.	.	T	0.07548	0.0190	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.35425	-0.9789	4	.	.	.	.	3.2115	0.06684	0.5115:0.1817:0.2108:0.096	.	.	.	.	F	246	.	.	L	-	1	0	COL12A1	75912586	0.449000	0.25689	0.003000	0.11579	0.717000	0.41224	0.061000	0.14366	-0.436000	0.07254	0.655000	0.94253	CTT		0.463	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		A	75855866	G	A	75855866	2	1	212	1	0	0	0	0	0	0	0	1	3669	932	33	2		2	COL12A1	6	75855866	Silent	SNP	G	TCGA-24-1105-01A-01W-0484-10		75855866	95259201	8	12229			1	7		2	2	14	G		8.818712e-06
COL12A1	1303	hgsc.bcm.edu	37	6	75855879	75855879	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr6:75855879G>C	ENST00000322507.8	-	24	4808	c.4499C>G	c.(4498-4500)gCt>gGt	p.A1500G	COL12A1_ENST00000483888.2_Missense_Mutation_p.A1500G|COL12A1_ENST00000345356.6_Missense_Mutation_p.A336G|COL12A1_ENST00000416123.2_Missense_Mutation_p.A1500G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1500	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.A1500G(1)|p.A1500V(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTAGCCAGTAGCTCCTCCCAC	0.463																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	6											92	91	92					6																	75855879		1980	4184	6164	75912599	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4499C>G	6.37:g.75855879G>C	ENSP00000325146:p.Ala1500Gly		75912599	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.376213|4.376213	0.82682|0.82682	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	5.08|5.08	4.2|4.2	0.49525|0.49525	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.082161|.	0.50627|.	D|.	0.000107|.	T|T	0.70141|0.70141	0.3190|0.3190	M|M	0.82323|0.82323	2.585|2.585	0.49798|0.49798	D|D	0.999825|0.999825	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.75020|.	0.95;0.985|.	T|T	0.73069|0.73069	-0.4099|-0.4099	10|5	0.49607|.	T|.	0.09|.	.|.	12.9249|12.9249	0.58254|0.58254	0.0785:0.0:0.9215:0.0|0.0785:0.0:0.9215:0.0	.|.	336;1500|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	G|R	1500;1500;336;1500;1500|241	ENSP00000325146:A1500G;ENSP00000305147:A336G;ENSP00000412864:A1500G;ENSP00000421216:A1500G|.	ENSP00000325146:A1500G|.	A|S	-|-	2|3	0|2	COL12A1|COL12A1	75912599|75912599	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.923000|0.923000	0.55619|0.55619	6.898000|6.898000	0.75676|0.75676	2.358000|2.358000	0.79984|0.79984	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.463	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		C	75855879	G	C	75855879	3	2	212	1	0	0	0	0	1	0	0	0	3669	971	34	3	4864	3	COL12A1	6	75855879	Missense_Mutation	SNP	G	TCGA-24-1105-01A-01W-0484-10	13	75855879	95259188	9	12230			1	7		2	2	14	G		8.818712e-06
PDAP1	11333	hgsc.bcm.edu	37	7	99001069	99001069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr7:99001069delC	ENST00000350498.3	-	3	445	c.165delG	c.(163-165)aagfs	p.K56fs		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	56					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)	p.K56fs*3(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTAGAGATTTCTTCTCCTTTT	0.443																																																2	Deletion - Frameshift(2)	ovary(2)	7											187	160	169					7																	99001069		2203	4297	6500	98839005	SO:0001589	frameshift_variant	11333			U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"PDGF associated protein"	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.165delG	7.37:g.99001069delC	ENSP00000222968:p.Lys56fs		98839005	D6W5S5|Q92906	Frame_Shift_Del	DEL	ENST00000350498.3	37	CCDS5662.1																																																																																				0.443	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891		-	99001069	C	-	99001069	7	5	212	1	0	1	0	1	0	0	0	0	11613	912	32	0	396	0	PDAP1	7	99001069	Frame_Shift_Del	DEL	C	TCGA-24-1105-01A-01W-0484-10		99001069	60137594	10	12231											
TUSC3	7991	hgsc.bcm.edu	37	8	15517134	15517134	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr8:15517134T>C	ENST00000503731.1	+	4	693	c.545T>C	c.(544-546)aTt>aCt	p.I182T	TUSC3_ENST00000506802.1_Missense_Mutation_p.I182T|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000382020.4_Missense_Mutation_p.I182T|TUSC3_ENST00000509380.1_Missense_Mutation_p.I182T	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	182	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.I182T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GCAAAGTGGATTGCTGACAGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	8											122	119	120					8																	15517134		2203	4300	6503	15561505	SO:0001583	missense	7991			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.545T>C	8.37:g.15517134T>C	ENSP00000424544:p.Ile182Thr		15561505	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991065	0.74703	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.52	4.36	0.52297	Thioredoxin-like fold (2);	0.044020	0.85682	N	0.000000	T	0.64571	0.2610	M	0.72353	2.195	0.45883	D	0.998731	P;P;D;P;P;B	0.53462	0.86;0.949;0.96;0.949;0.949;0.061	P;P;D;P;P;B	0.66979	0.89;0.719;0.948;0.756;0.719;0.018	T	0.66842	-0.5821	10	0.87932	D	0	-15.9751	10.9576	0.47366	0.0:0.0736:0.0:0.9264	.	182;182;182;182;182;182	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	T	182	ENSP00000371450:I182T;ENSP00000425777:I182T;ENSP00000423426:I182T;ENSP00000424544:I182T	ENSP00000221167:I182T	I	+	2	0	TUSC3	15561505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.035000	0.39972	0.528000	0.53228	ATT		0.383	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		C	15517134	T	C	15517134	3	2	212	1	0	0	0	0	1	0	0	0	16778	1493	52	4	559	4	TUSC3	8	15517134	Missense_Mutation	SNP	T	TCGA-24-1105-01A-01W-0484-10		15517134	130846888	11	12232											
STMN4	81551	hgsc.bcm.edu	37	8	27097669	27097669	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr8:27097669G>A	ENST00000265770.7	-	5	465	c.329C>T	c.(328-330)gCg>gTg	p.A110V	STMN4_ENST00000522908.1_Missense_Mutation_p.A137V|STMN4_ENST00000523048.1_Missense_Mutation_p.A137V|STMN4_ENST00000519614.1_Missense_Mutation_p.A110V|STMN4_ENST00000350889.4_Missense_Mutation_p.A137V|STMN4_ENST00000519997.1_Missense_Mutation_p.A101V			Q9H169	STMN4_HUMAN	stathmin-like 4	110	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)		p.A137V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	CAGGAGCTCCGCTTCCTGGTA	0.493																																																1	Substitution - Missense(1)	ovary(1)	8											121	116	118					8																	27097669		2203	4300	6503	27153586	SO:0001583	missense	81551				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.329C>T	8.37:g.27097669G>A	ENSP00000265770:p.Ala110Val		27153586	B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	ENST00000265770.7	37		.	.	.	.	.	.	.	.	.	.	G	26.5	4.743418	0.89663	.	.	ENSG00000015592	ENST00000350889;ENST00000519997;ENST00000265770;ENST00000523048;ENST00000519614;ENST00000522908	.	.	.	5.86	4.99	0.66335	.	0.049987	0.85682	D	0.000000	T	0.77731	0.4174	M	0.78285	2.405	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;0.975;0.996	P;D;P;D;B;P	0.72075	0.905;0.92;0.55;0.976;0.222;0.55	T	0.79332	-0.1847	9	0.51188	T	0.08	-24.0282	12.7295	0.57191	0.0792:0.0:0.9208:0.0	.	137;101;137;110;110;137	E7EVN3;B7Z2Z7;G5EA16;E5RIR6;Q9H169;Q9H169-2	.;.;.;.;STMN4_HUMAN;.	V	137;101;110;137;110;137	.	ENSP00000265770:A110V	A	-	2	0	STMN4	27153586	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	9.869000	0.99810	1.494000	0.48533	0.655000	0.94253	GCG		0.493	STMN4-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000375941.1	NM_030795		A	27097669	G	A	27097669	3	1	212	1	0	0	0	0	1	0	0	0	15313	1087	38	1	248	1	STMN4	8	27097669	Missense_Mutation	SNP	G	TCGA-24-1105-01A-01W-0484-10	11580535	27097669	119266353	12	12233											
SLC39A12	221074	hgsc.bcm.edu	37	10	18289716	18289716	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr10:18289716C>T	ENST00000377369.2	+	11	1994	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.T440M|SLC39A12_ENST00000377374.4_Missense_Mutation_p.T537M|SLC39A12_ENST00000377371.3_Missense_Mutation_p.T573M|SLC39A12-AS1_ENST00000439319.1_RNA	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	574					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.T537M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GTGACCACTACGATTGCTATC	0.443																																																1	Substitution - Missense(1)	ovary(1)	10											140	117	125					10																	18289716		2203	4300	6503	18329722	SO:0001583	missense	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1721C>T	10.37:g.18289716C>T	ENSP00000366586:p.Thr574Met		18329722	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408167	0.83340	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.62	5.62	0.85841	.	0.044917	0.85682	D	0.000000	T	0.72653	0.3487	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.83275	0.995;0.874;0.996	T	0.74478	-0.3652	10	0.66056	D	0.02	-17.5442	20.0281	0.97530	0.0:1.0:0.0:0.0	.	573;574;537	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	M	574;537;573;440;494	ENSP00000366586:T574M;ENSP00000366591:T537M;ENSP00000366588:T573M;ENSP00000440445:T440M	ENSP00000366586:T574M	T	+	2	0	SLC39A12	18329722	1.000000	0.71417	0.320000	0.25306	0.726000	0.41606	7.776000	0.85560	2.818000	0.97014	0.655000	0.94253	ACG		0.443	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		T	18289716	C	T	18289716	3	4	212	1	0	0	0	0	1	0	0	0	14618	536	19	1	1759	1	SLC39A12	10	18289716	Missense_Mutation	SNP	C	TCGA-24-1105-01A-01W-0484-10		18289716	117245031	13	12234											
MYO3A	53904	hgsc.bcm.edu	37	10	26385321	26385321	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr10:26385321A>G	ENST00000265944.5	+	16	1740	c.1574A>G	c.(1573-1575)aAt>aGt	p.N525S	MYO3A_ENST00000543632.1_Missense_Mutation_p.N525S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	525	Myosin motor.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N525S(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGAGAAAAAAATTTTCATATT	0.323																																																2	Substitution - Missense(2)	ovary(2)	10											30	34	33					10																	26385321		2194	4287	6481	26425327	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1574A>G	10.37:g.26385321A>G	ENSP00000265944:p.Asn525Ser		26425327	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.904706	0.72868	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.88431	-0.92;-2.38	5.48	4.33	0.51752	Myosin head, motor domain (2);	0.042713	0.85682	D	0.000000	D	0.93006	0.7774	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.99;0.994;1.0	D	0.93010	0.6431	10	0.87932	D	0	.	12.136	0.53972	0.8716:0.0:0.0:0.1284	.	525;525;525	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	S	525	ENSP00000265944:N525S;ENSP00000445909:N525S	ENSP00000265944:N525S	N	+	2	0	MYO3A	26425327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	0.993000	0.38866	0.533000	0.62120	AAT		0.323	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		G	26385321	A	G	26385321	3	3	212	1	0	0	0	0	1	0	0	0	10076	101	4	4	1628	4	MYO3A	10	26385321	Missense_Mutation	SNP	A	TCGA-24-1105-01A-01W-0484-10	8095605	26385321	109149426	14	12235											
SLC4A8	9498	hgsc.bcm.edu	37	12	51888785	51888785	+	Silent	SNP	C	C	T			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr12:51888785C>T	ENST00000453097.2	+	21	3043	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	SLC4A8_ENST00000358657.3_Silent_p.I969I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.I942I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CAGATTTCATCTACCTGCGGC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	12											147	125	133					12																	51888785		2203	4300	6503	50175052	SO:0001819	synonymous_variant	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2826C>T	12.37:g.51888785C>T			50175052		Silent	SNP	ENST00000453097.2	37	CCDS44890.1																																																																																				0.527	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		T	51888785	C	T	51888785	2	4	212	1	0	0	0	0	0	0	0	1	14662	903	32	2		2	SLC4A8	12	51888785	Silent	SNP	C	TCGA-24-1105-01A-01W-0484-10		51888785	81963110	15	12236											
ANGEL1	23357	hgsc.bcm.edu	37	14	77273001	77273001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr14:77273001G>A	ENST00000251089.2	-	5	1250	c.1138C>T	c.(1138-1140)Caa>Taa	p.Q380*	ANGEL1_ENST00000554941.1_5'Flank|ANGEL1_ENST00000557179.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	380								p.Q380*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACCGAGACTTGTCCCAGGCCT	0.577																																																1	Substitution - Nonsense(1)	ovary(1)	14											76	77	77					14																	77273001		2203	4300	6503	76342754	SO:0001587	stop_gained	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1138C>T	14.37:g.77273001G>A	ENSP00000251089:p.Gln380*		76342754	B4DWL7|O94859|Q8NCS9	Nonsense_Mutation	SNP	ENST00000251089.2	37	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	G	38	6.989864	0.97987	.	.	ENSG00000013523	ENST00000251089	.	.	.	5.97	5.97	0.96955	.	0.674762	0.15332	N	0.267936	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-3.128	15.0204	0.71627	0.0:0.1413:0.8587:0.0	.	.	.	.	X	380	.	ENSP00000251089:Q380X	Q	-	1	0	ANGEL1	76342754	0.026000	0.19158	0.988000	0.46212	0.979000	0.70002	1.565000	0.36386	2.836000	0.97738	0.655000	0.94253	CAA		0.577	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		A	77273001	G	A	77273001	4	1	212	1	0	0	0	0	0	1	0	0	608	1386	48	2	898	2	ANGEL1	14	77273001	Nonsense_Mutation	SNP	G	TCGA-24-1105-01A-01W-0484-10		77273001	30076539	16	12237											
TP53	7157	hgsc.bcm.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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"	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	17											50	52	51					17																	7578461		2202	4300	6502	7519186	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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe		7519186	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578461	C	A	7578461	3	1	212	1	0	0	0	0	1	0	0	0	16381	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-24-1105-01A-01W-0484-10		7578461	73616749	17	12238											
TOP2A	7153	hgsc.bcm.edu	37	17	38569199	38569200	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr17:38569199_38569200delCT	ENST00000423485.1	-	7	758_759	c.600_601delAG	c.(598-603)agagctfs	p.RA200fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	200					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATCTCACCAGCTCTTCCCATAT	0.351																																																0			17																																								35822726	SO:0001589	frameshift_variant	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.600_601delAG	17.37:g.38569201_38569202delCT	ENSP00000411532:p.Arg200fs		35822725	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Frame_Shift_Del	DEL	ENST00000423485.1	37	CCDS45672.1																																																																																				0.351	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			-	38569200	CT	-	38569199	7	5	212	1	0	1	0	1	0	0	0	0	16365	797	28	0	4110	0	TOP2A	17	38569199	Frame_Shift_Del	DEL	CT	TCGA-24-1105-01A-01W-0484-10	30990738	38569199	42626011	18	12239											
TBC1D17	79735	hgsc.bcm.edu	37	19	50381769	50381770	+	In_Frame_Ins	INS	-	-	CTG			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr19:50381769_50381770insCTG	ENST00000221543.5	+	3	434_435	c.135_136insCTG	c.(136-138)ctg>CTGctg	p.46_46L>LL	AKT1S1_ENST00000344175.5_5'Flank|TBC1D17_ENST00000598789.1_3'UTR|AKT1S1_ENST00000482622.1_5'Flank|AKT1S1_ENST00000391832.3_5'Flank|AKT1S1_ENST00000391831.1_5'Flank|TBC1D17_ENST00000535102.2_In_Frame_Ins_p.13_13L>LL|AKT1S1_ENST00000391835.1_5'Flank|AKT1S1_ENST00000391834.2_5'Flank	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	46					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)	p.L45_L46insL(1)		NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ATGACGTCCTCCTGCACTGGGC	0.535																																																1	Insertion - In frame(1)	ovary(1)	19																																								55073582	SO:0001652	inframe_insertion	79735			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.136_138dupCTG	19.37:g.50381770_50381772dupCTG	ENSP00000221543:p.Leu46dup		55073581	B4DT12|B9A6L8|F5H1W7	In_Frame_Ins	INS	ENST00000221543.5	37	CCDS12785.1																																																																																				0.535	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		CTG	50381770	-	CTG	50381769	7	5	212	1	0	1	1	0	0	0	0	0	15606	842	30	0	145	0	TBC1D17	19	50381769	In_Frame_Ins	INS	-	TCGA-24-1105-01A-01W-0484-10		50381769	8747214	19	12240											
RALY	22913	hgsc.bcm.edu	37	20	32661419	32661419	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr20:32661419A>T	ENST00000246194.3	+	4	809	c.307A>T	c.(307-309)Aga>Tga	p.R103*	RALY_ENST00000375114.3_Nonsense_Mutation_p.R103*|RALY_ENST00000493399.1_3'UTR	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	103					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R103*(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGGGCTAAAGAGAGCAGCATC	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	20											185	154	164					20																	32661419		2203	4300	6503	32125080	SO:0001587	stop_gained	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.307A>T	20.37:g.32661419A>T	ENSP00000246194:p.Arg103*		32125080	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Nonsense_Mutation	SNP	ENST00000246194.3	37	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	A	42	9.170112	0.99089	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000442805	.	.	.	5.4	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9456	7.4369	0.27160	0.7831:0.1422:0.0746:0.0	.	.	.	.	X	103	.	ENSP00000246194:R103X	R	+	1	2	RALY	32125080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.182000	0.50910	2.273000	0.75805	0.482000	0.46254	AGA		0.532	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			T	32661419	A	T	32661419	4	4	212	1	0	0	0	0	0	1	0	0	13022	296	11	5	313	5	RALY	20	32661419	Nonsense_Mutation	SNP	A	TCGA-24-1105-01A-01W-0484-10		32661419	30364101	20	12241											
CHD6	84181	hgsc.bcm.edu	37	20	40050566	40050566	+	Missense_Mutation	SNP	T	T	C	rs142605942		TCGA-24-1105-01A-01W-0484-10	TCGA-24-1105-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	663224d7-4354-4982-93b7-a1bd5250c6a4	5c23f9b9-be97-4109-a91a-62fdef0511ba	g.chr20:40050566T>C	ENST00000373233.3	-	31	4886	c.4709A>G	c.(4708-4710)tAc>tGc	p.Y1570C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1570					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.Y1570C(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GACTGGGAGGTAGAGGCTGGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	20											83	58	66					20																	40050566		2203	4300	6503	39483980	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4709A>G	20.37:g.40050566T>C	ENSP00000362330:p.Tyr1570Cys		39483980	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547899	0.65311	.	.	ENSG00000124177	ENST00000373233	D	0.87029	-2.2	5.89	4.78	0.61160	.	0.000000	0.56097	D	0.000034	D	0.92208	0.7529	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.71184	0.972	D	0.92525	0.6028	10	0.87932	D	0	-9.5991	13.4331	0.61068	0.0:0.0:0.1309:0.8691	.	1570	Q8TD26	CHD6_HUMAN	C	1570	ENSP00000362330:Y1570C	ENSP00000362330:Y1570C	Y	-	2	0	CHD6	39483980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.296000	0.72751	1.057000	0.40506	0.529000	0.55759	TAC		0.557	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			C	40050566	T	C	40050566	3	2	212	1	0	0	0	0	1	0	0	0	3329	1638	57	4	3466	4	CHD6	20	40050566	Missense_Mutation	SNP	T	TCGA-24-1105-01A-01W-0484-10	7389147	40050566	22974954	21	12242											
PADI4	23569	genome.wustl.edu	37	1	17685855	17685855	+	Silent	SNP	C	C	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr1:17685855C>T	ENST00000375448.4	+	15	1736	c.1710C>T	c.(1708-1710)ctC>ctT	p.L570L		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	570					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.L570L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCCCGCAGCTCTTCAAGCTCA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1											93	94	93					1																	17685855		2203	4300	6503	17558442	SO:0001819	synonymous_variant	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1710C>T	1.37:g.17685855C>T			17558442	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	CCDS180.1																																																																																				0.582	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		T	17685855	C	T	17685855	2	4	213	1	0	0	0	0	0	0	0	1	11380	900	32	2		2	PADI4	1	17685855	Silent	SNP	C	TCGA-24-1413-01A-01W-0494-09		17685855	231564766	1	12243											
HCN3	57657	genome.wustl.edu	37	1	155254337	155254337	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr1:155254337C>T	ENST00000368358.3	+	4	886	c.878C>T	c.(877-879)tCg>tTg	p.S293L	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	293					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.S293L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			CAGAACCACTCGTGGGGCCGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											57	52	53					1																	155254337		2203	4300	6503	153520961	SO:0001583	missense	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.878C>T	1.37:g.155254337C>T	ENSP00000357342:p.Ser293Leu		153520961	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056221	0.93793	.	.	ENSG00000143630	ENST00000368358	D	0.98666	-5.06	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.44902	D	0.000409	D	0.98937	0.9639	M	0.89478	3.035	0.58432	D	0.999996	D	0.61080	0.989	P	0.57204	0.815	D	0.99016	1.0816	10	0.48119	T	0.1	.	16.9105	0.86139	0.0:1.0:0.0:0.0	.	293	Q9P1Z3	HCN3_HUMAN	L	293	ENSP00000357342:S293L	ENSP00000357342:S293L	S	+	2	0	HCN3	153520961	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.653000	0.90120	0.557000	0.71058	TCG		0.592	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		T	155254337	C	T	155254337	3	4	213	1	0	0	0	0	1	0	0	0	6998	893	31	1	892	1	HCN3	1	155254337	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09	137568482	155254337	93996284	2	12244											
C1orf107	27042	genome.wustl.edu	37	1	210015727	210015728	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	GG	GG	GG	CT	GG	GG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr1:210015727_210015728GG>CT	ENST00000491415.2	+	9	1660_1661	c.1603_1604GG>CT	c.(1603-1605)GGg>CTg	p.G535L		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	535					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACTGCTATTTGGGGCCCTTCAG	0.495																																																0			1																																								208082351	SO:0001583	missense	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	Exception_encountered	1.37:g.210015727_210015728delinsCT	ENSP00000419005:p.Gly535Leu		208082350	O75992|Q4VY00|Q63HL9	Missense_Mutation	DNP	ENST00000491415.2	37	CCDS1493.1																																																																																				0.495	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		CT	210015728	GG	CT	210015727	3	2	213	1	0	0	0	0	1	0	0	0	1981	1348	47	3	1637	3	C1orf107	1	210015727	Missense_Mutation	DNP	GG	TCGA-24-1413-01A-01W-0494-09	54761390	210015727	39234894	3	12245											
EXO1	9156	genome.wustl.edu	37	1	242016670	242016670	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr1:242016670G>A	ENST00000366548.3	+	6	885	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	EXO1_ENST00000518483.1_Missense_Mutation_p.A98T|EXO1_ENST00000348581.5_Missense_Mutation_p.A98T|EXO1_ENST00000493702.1_3'UTR	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	98	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.A98T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAGACGACAAGCCAATCTTCT	0.413								Editing and processing nucleases																																								1	Substitution - Missense(1)	ovary(1)	1											74	81	79					1																	242016670		2203	4300	6503	240083293	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.292G>A	1.37:g.242016670G>A	ENSP00000355506:p.Ala98Thr		240083293	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401551	0.25291	.	.	ENSG00000174371	ENST00000366548;ENST00000423131;ENST00000523590;ENST00000348581;ENST00000366547;ENST00000518483;ENST00000437497;ENST00000450748	T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.51	0.76	0.18442	XPG N-terminal (2);	0.366531	0.33477	N	0.004864	T	0.23846	0.0577	N	0.17474	0.49	0.40035	D	0.975578	B;B;B	0.13594	0.004;0.002;0.008	B;B;B	0.09377	0.003;0.002;0.004	T	0.04855	-1.0922	10	0.19147	T	0.46	1.1907	5.3604	0.16085	0.4128:0.0:0.4554:0.1319	.	98;98;98	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	98;58;58;98;58;98;58;98	ENSP00000355506:A98T;ENSP00000415531:A58T;ENSP00000430082:A58T;ENSP00000311873:A98T;ENSP00000430251:A98T;ENSP00000412041:A58T;ENSP00000406652:A98T	ENSP00000311873:A98T	A	+	1	0	EXO1	240083293	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	1.189000	0.32114	0.188000	0.20168	0.655000	0.94253	GCC		0.413	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		A	242016670	G	A	242016670	3	1	213	1	0	0	0	0	1	0	0	0	5300	971	34	2	302	2	EXO1	1	242016670	Missense_Mutation	SNP	G	TCGA-24-1413-01A-01W-0494-09	32000943	242016670	7233951	4	12246											
ILKAP	80895	genome.wustl.edu	37	2	239102952	239102952	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr2:239102952A>G	ENST00000254654.3	-	3	317	c.142T>C	c.(142-144)Ttt>Ctt	p.F48L	ILKAP_ENST00000490837.1_5'Flank	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	48					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.F48L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		AGATCATCAAAAAGCAAAGGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											77	75	75					2																	239102952		2203	4300	6503	238767691	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.142T>C	2.37:g.239102952A>G	ENSP00000254654:p.Phe48Leu		238767691	B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747135	0.89663	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.50001	1.93;0.76	5.8	5.8	0.92144	.	0.194072	0.45361	D	0.000374	T	0.33673	0.0871	N	0.19112	0.55	0.49130	D	0.99975	P	0.34977	0.478	B	0.31442	0.13	T	0.29971	-0.9994	10	0.72032	D	0.01	0.7114	13.6667	0.62401	1.0:0.0:0.0:0.0	.	48	Q9H0C8	ILKAP_HUMAN	L	48	ENSP00000254654:F48L;ENSP00000395301:F48L	ENSP00000254654:F48L	F	-	1	0	ILKAP	238767691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.210000	0.65214	2.212000	0.71576	0.528000	0.53228	TTT		0.428	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		G	239102952	A	G	239102952	3	3	213	1	0	0	0	0	1	0	0	0	7714	14	1	4	1076	4	ILKAP	2	239102952	Missense_Mutation	SNP	A	TCGA-24-1413-01A-01W-0494-09		239102952	4096421	5	12247											
CNTN4	152330	genome.wustl.edu	37	3	3078974	3078974	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr3:3078974C>A	ENST00000397461.1	+	17	2438	c.2054C>A	c.(2053-2055)cCc>cAc	p.P685H	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.P685H|CNTN4_ENST00000418658.1_Missense_Mutation_p.P685H|CNTN4_ENST00000448906.2_Missense_Mutation_p.P357H|CNTN4_ENST00000397459.2_Missense_Mutation_p.P357H|CNTN4_ENST00000358480.3_Missense_Mutation_p.P466H	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	685	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.P357H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGGGGAGCCCAGCCGCCCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	3											162	173	169					3																	3078974		2203	4300	6503	3053974	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2054C>A	3.37:g.3078974C>A	ENSP00000380602:p.Pro685His		3053974	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042273	0.93685	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.48	5.48	0.80851	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.996;0.996;1.0	D	0.89921	0.4059	10	0.87932	D	0	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	684;685;685	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	H	685;685;685;466;357;357	ENSP00000396010:P685H;ENSP00000380602:P685H;ENSP00000413642:P685H;ENSP00000351267:P466H;ENSP00000380600:P357H;ENSP00000392077:P357H	ENSP00000351267:P466H	P	+	2	0	CNTN4	3053974	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.642000	0.83385	2.572000	0.86782	0.655000	0.94253	CCC		0.522	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			A	3078974	C	A	3078974	3	1	213	1	0	0	0	0	1	0	0	0	3643	623	22	3	2112	3	CNTN4	3	3078974	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09		3078974	194943456	6	12248											
CCR9	10803	genome.wustl.edu	37	3	45943248	45943248	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr3:45943248G>T	ENST00000357632.2	+	3	1148	c.968G>T	c.(967-969)aGa>aTa	p.R323I	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.R311I|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.R311I|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	323					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.R323I(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GTGGGTGAGAGATTCCGCCGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	3											107	100	103					3																	45943248		2203	4300	6503	45918252	SO:0001583	missense	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.968G>T	3.37:g.45943248G>T	ENSP00000350256:p.Arg323Ile		45918252	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845447	0.71603	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.38560	1.13;1.13;1.13	4.96	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.60455	1.87	0.80722	D	1	D	0.63046	0.992	D	0.68353	0.957	T	0.57027	-0.7881	10	0.87932	D	0	.	9.0593	0.36425	0.2137:0.0:0.7863:0.0	.	323	P51686	CCR9_HUMAN	I	323;311;311	ENSP00000350256:R323I;ENSP00000379292:R311I;ENSP00000348260:R311I	ENSP00000348260:R311I	R	+	2	0	CCR9	45918252	1.000000	0.71417	0.983000	0.44433	0.969000	0.65631	3.324000	0.52022	2.289000	0.77006	0.563000	0.77884	AGA		0.522	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			T	45943248	G	T	45943248	3	4	213	1	0	0	0	0	1	0	0	0	2948	942	33	3	974	3	CCR9	3	45943248	Missense_Mutation	SNP	G	TCGA-24-1413-01A-01W-0494-09	42864274	45943248	152079182	7	12249											
KBTBD8	84541	genome.wustl.edu	37	3	67058594	67058594	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr3:67058594C>G	ENST00000417314.2	+	4	1640	c.1591C>G	c.(1591-1593)Cag>Gag	p.Q531E	KBTBD8_ENST00000295568.4_Missense_Mutation_p.Q505E|KBTBD8_ENST00000460576.1_Missense_Mutation_p.Q89E			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	531						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.Q505E(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGTACTTTTCCAGAACAAACT	0.363																																																1	Substitution - Missense(1)	ovary(1)	3											117	113	114					3																	67058594		2203	4300	6503	67141284	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1591C>G	3.37:g.67058594C>G	ENSP00000401878:p.Gln531Glu		67141284	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	C	7.217	0.596674	0.13875	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.65549	-0.16;-0.16;-0.16	5.57	3.64	0.41730	Kelch-type beta propeller (1);	0.332540	0.35349	N	0.003272	T	0.42245	0.1194	N	0.19112	0.55	0.44587	D	0.997559	B;B	0.10296	0.001;0.003	B;B	0.10450	0.001;0.005	T	0.30880	-0.9963	10	0.32370	T	0.25	.	7.7872	0.29099	0.3601:0.5226:0.1173:0.0	.	89;531	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	E	505;89;531	ENSP00000295568:Q505E;ENSP00000419738:Q89E;ENSP00000401878:Q531E	ENSP00000295568:Q505E	Q	+	1	0	KBTBD8	67141284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.873000	0.48475	2.629000	0.89072	0.650000	0.86243	CAG		0.363	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		G	67058594	C	G	67058594	3	3	213	1	0	0	0	0	1	0	0	0	7999	595	21	3	1605	3	KBTBD8	3	67058594	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09	21115346	67058594	130963836	8	12250											
EPHA3	2042	genome.wustl.edu	37	3	89499497	89499497	+	Silent	SNP	G	G	A			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr3:89499497G>A	ENST00000336596.2	+	15	2892	c.2667G>A	c.(2665-2667)aaG>aaA	p.K889K	EPHA3_ENST00000494014.1_Silent_p.K889K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	889					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.K889K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCAGCCTGAAGATCATCACCA	0.438										TSP Lung(6;0.00050)																																						1	Substitution - coding silent(1)	ovary(1)	3											68	63	65					3																	89499497		2203	4300	6503	89582187	SO:0001819	synonymous_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2667G>A	3.37:g.89499497G>A			89582187	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																				0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		A	89499497	G	A	89499497	2	1	213	1	0	0	0	0	0	0	0	1	5168	933	33	2		2	EPHA3	3	89499497	Silent	SNP	G	TCGA-24-1413-01A-01W-0494-09	22440903	89499497	108522933	9	12251											
ACPP	55	genome.wustl.edu	37	3	132075676	132075676	+	Missense_Mutation	SNP	G	G	T	rs151032097		TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr3:132075676G>T	ENST00000336375.5	+	10	1205	c.1115G>T	c.(1114-1116)tGt>tTt	p.C372F	ACPP_ENST00000351273.7_Missense_Mutation_p.C372F|ACPP_ENST00000475741.1_Missense_Mutation_p.C339F	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	372				C -> V (in Ref. 3; AAA60022). {ECO:0000305}.	adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.C372F(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TCCACGGAGTGTATGACCACA	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											144	124	131					3																	132075676		2203	4300	6503	133558366	SO:0001583	missense	55				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.1115G>T	3.37:g.132075676G>T	ENSP00000337471:p.Cys372Phe		133558366	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	CCDS3073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.75|17.75	3.466300|3.466300	0.63625|0.63625	.|.	.|.	ENSG00000014257|ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273|ENST00000507647	D;D;D|.	0.96200|.	-3.94;-3.94;-3.94|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85448|0.85448	0.5699|0.5699	M|M	0.93106|0.93106	3.38|3.38	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.88514|0.88514	0.3091|0.3091	10|5	0.87932|.	D|.	0|.	.|.	15.2731|15.2731	0.73720|0.73720	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	372;372;339|.	P15309;P15309-2;Q5FBY0|.	PPAP_HUMAN;.;.|.	F|L	372;339;372|57	ENSP00000337471:C372F;ENSP00000417744:C339F;ENSP00000323036:C372F|.	ENSP00000337471:C372F|.	C|V	+|+	2|1	0|0	ACPP|ACPP	133558366|133558366	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.670000|0.670000	0.39368|0.39368	5.307000|5.307000	0.65762|0.65762	2.677000|2.677000	0.91161|0.91161	0.655000|0.655000	0.94253|0.94253	TGT|GTA		0.537	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		T	132075676	G	T	132075676	3	4	213	1	0	0	0	0	1	0	0	0	167	1377	48	3	1153	3	ACPP	3	132075676	Missense_Mutation	SNP	G	TCGA-24-1413-01A-01W-0494-09	42576179	132075676	65946754	10	12252											
ADIPOQ	9370	genome.wustl.edu	37	3	186572201	186572201	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr3:186572201G>T	ENST00000412955.2	+	3	584	c.443G>T	c.(442-444)gGt>gTt	p.G148V	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G148V|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G148V|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	148	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)	p.G148V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGCTCCACTGGTAAATTCCAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											194	172	180					3																	186572201		2203	4300	6503	188054895	SO:0001583	missense	9370			D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"Endogenous ligands"	13633	protein-coding gene	gene with protein product	"adipose most abundant gene transcript 1", "adiponectin precursor"	605441	"adipocyte, C1Q and collagen domain containing"	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.443G>T	3.37:g.186572201G>T	ENSP00000405611:p.Gly148Val		188054895	Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479953	0.84747	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	D;D;D	0.90324	-2.65;-2.65;-2.65	5.25	5.25	0.73442	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.061993	0.64402	D	0.000005	D	0.97046	0.9035	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98179	1.0456	10	0.87932	D	0	.	16.6983	0.85342	0.0:0.0:1.0:0.0	.	148	Q15848	ADIPO_HUMAN	V	148	ENSP00000405611:G148V;ENSP00000320709:G148V;ENSP00000389814:G148V	ENSP00000320709:G148V	G	+	2	0	ADIPOQ	188054895	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.006000	0.88564	2.631000	0.89168	0.561000	0.74099	GGT		0.453	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		T	186572201	G	T	186572201	3	4	213	1	0	0	0	0	1	0	0	0	317	1261	44	3	449	3	ADIPOQ	3	186572201	Missense_Mutation	SNP	G	TCGA-24-1413-01A-01W-0494-09	54496525	186572201	11450229	11	12253											
UGT2A1	10941	genome.wustl.edu	37	4	70465031	70465031	+	Missense_Mutation	SNP	C	C	T	rs374804650		TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr4:70465031C>T	ENST00000503640.1	-	2	852	c.797G>A	c.(796-798)cGt>cAt	p.R266H	UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R275H|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R476H|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R310H|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R266H	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	266					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R266H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAGTATGGACGAGGAAATTC	0.403													C|||	1	0.000199681	8e-04	0	5008	,	,		15702	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4						C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	78	72	74		824,797	2.9	1	4		74	0,8600		0,0,4300	no	missense,missense	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	275/537,266/528	70465031	2,13004	2203	4300	6503	70499620	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.797G>A	4.37:g.70465031C>T	ENSP00000424478:p.Arg266His		70499620	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	9.277	1.047051	0.19827	4.54E-4	0.0	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.66460	0.13;0.13;-0.21;-0.21;-0.18	4.64	2.92	0.33932	.	0.115242	0.64402	N	0.000011	T	0.69753	0.3146	L	0.42487	1.325	.	.	.	D;P;D;B;B	0.89917	1.0;0.864;1.0;0.257;0.159	D;B;D;B;B	0.70935	0.95;0.189;0.971;0.023;0.071	T	0.72054	-0.4406	9	0.27785	T	0.31	.	7.8913	0.29680	0.1594:0.7545:0.0:0.0861	.	476;476;266;275;266	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	H	275;266;266;476;310	ENSP00000387888:R275H;ENSP00000424478:R266H;ENSP00000421432:R266H;ENSP00000425497:R476H;ENSP00000286604:R310H	ENSP00000286604:R310H	R	-	2	0	UGT2A1	70499620	1.000000	0.71417	0.968000	0.41197	0.246000	0.25737	5.648000	0.67930	0.685000	0.31468	-0.217000	0.12591	CGT		0.403	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		T	70465031	C	T	70465031	3	4	213	1	0	0	0	0	1	0	0	0	16953	536	19	1	806	1	UGT2A1	4	70465031	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09		70465031	120689245	12	12254											
ADH1C	126	genome.wustl.edu	37	4	100257932	100257932	+	RNA	SNP	T	T	C			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr4:100257932T>C	ENST00000515683.1	-	0	1456					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	ACGGTACGGATACTGCAATAG	0.423																																																0			4											190	176	181					4																	100257932		2203	4300	6503	100476955			126			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"Alcohol dehydrogenases"	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100257932T>C			100476955	Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000515683.1	37																																																																																					0.423	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		C	100257932	T	C	100257932	1	2	213	0	1	0	0	0	0	0	0	0	309	1420	49	4		4	ADH1C	4	100257932	RNA	SNP	T	TCGA-24-1413-01A-01W-0494-09	29792901	100257932	90896344	13	12255											
DNAH5	1767	genome.wustl.edu	37	5	13864743	13864743	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr5:13864743A>T	ENST00000265104.4	-	28	4463	c.4359T>A	c.(4357-4359)tgT>tgA	p.C1453*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1453	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C1453*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAGCTTTCGACATCTGTGAA	0.463									Kartagener syndrome																																							1	Substitution - Nonsense(1)	ovary(1)	5											58	59	58					5																	13864743		2203	4300	6503	13917743	SO:0001587	stop_gained	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4359T>A	5.37:g.13864743A>T	ENSP00000265104:p.Cys1453*		13917743	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	45	11.795652	0.99604	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.32	5.32	0.75619	.	0.047985	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7592	0.18190	0.7874:0.0:0.2126:0.0	.	.	.	.	X	1453	.	ENSP00000265104:C1453X	C	-	3	2	DNAH5	13917743	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.380000	0.44327	2.014000	0.59158	0.514000	0.50259	TGT		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13864743	A	T	13864743	4	4	213	1	0	0	0	0	0	1	0	0	4604	273	10	5	9723	5	DNAH5	5	13864743	Nonsense_Mutation	SNP	A	TCGA-24-1413-01A-01W-0494-09		13864743	167050517	14	12256											
DNAH5	1767	genome.wustl.edu	37	5	13894789	13894789	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr5:13894789C>T	ENST00000265104.4	-	16	2505	c.2401G>A	c.(2401-2403)Gct>Act	p.A801T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	801	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A801T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTAAATAAGCCTCAATATTC	0.403									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											129	122	124					5																	13894789		2203	4300	6503	13947789	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2401G>A	5.37:g.13894789C>T	ENSP00000265104:p.Ala801Thr		13947789	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	2.002	-0.429190	0.04701	.	.	ENSG00000039139	ENST00000265104	T	0.53640	0.61	5.23	-9.97	0.00440	Dynein heavy chain, domain-1 (1);	0.924046	0.09224	N	0.831446	T	0.15696	0.0378	N	0.03224	-0.385	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20371	-1.0277	10	0.16420	T	0.52	.	7.2127	0.25943	0.1754:0.3697:0.0:0.4549	.	801	Q8TE73	DYH5_HUMAN	T	801	ENSP00000265104:A801T	ENSP00000265104:A801T	A	-	1	0	DNAH5	13947789	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.346000	0.19997	-1.750000	0.01328	-1.817000	0.00601	GCT		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13894789	C	T	13894789	3	4	213	1	0	0	0	0	1	0	0	0	4604	739	26	2	11729	2	DNAH5	5	13894789	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09	30046	13894789	167020471	15	12257											
PKHD1	5314	genome.wustl.edu	37	6	51890338	51890338	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr6:51890338C>G	ENST00000371117.3	-	32	4545	c.4270G>C	c.(4270-4272)Gac>Cac	p.D1424H	PKHD1_ENST00000340994.4_Missense_Mutation_p.D1424H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1424	IPT/TIG 9.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.D1424H(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCGAGAGGTCAACCCGAACT	0.527																																																1	Substitution - Missense(1)	ovary(1)	6											101	107	105					6																	51890338		2203	4300	6503	51998297	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4270G>C	6.37:g.51890338C>G	ENSP00000360158:p.Asp1424His		51998297	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	0.422	-0.907979	0.02434	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.76060	-0.99;-0.99	5.87	1.94	0.25998	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.641780	0.16332	N	0.219063	T	0.61098	0.2320	M	0.70595	2.14	0.09310	N	1	B;P	0.38335	0.046;0.627	B;P	0.46362	0.03;0.514	T	0.58819	-0.7569	10	0.56958	D	0.05	.	4.5736	0.12223	0.2516:0.3086:0.3678:0.0719	.	1424;1424	P08F94-2;P08F94	.;PKHD1_HUMAN	H	1424	ENSP00000360158:D1424H;ENSP00000341097:D1424H	ENSP00000341097:D1424H	D	-	1	0	PKHD1	51998297	0.010000	0.17322	0.000000	0.03702	0.020000	0.10135	0.479000	0.22228	0.058000	0.16222	-0.152000	0.13540	GAC		0.527	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51890338	C	G	51890338	3	3	213	1	0	0	0	0	1	0	0	0	11971	826	29	3	8137	3	PKHD1	6	51890338	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09		51890338	119224729	16	12258											
TRIM4	89122	genome.wustl.edu	37	7	99489913	99489913	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr7:99489913A>G	ENST00000355947.2	-	7	1505	c.1376T>C	c.(1375-1377)tTc>tCc	p.F459S	TRIM4_ENST00000349062.2_Missense_Mutation_p.F433S	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.F459S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGCGCTGTAGAAGGAGACATT	0.537																																																1	Substitution - Missense(1)	ovary(1)	7											147	142	144					7																	99489913		2203	4300	6503	99327849	SO:0001583	missense	89122			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1376T>C	7.37:g.99489913A>G	ENSP00000348216:p.Phe459Ser		99327849	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580308	0.65992	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	D;D	0.89552	-2.53;-2.53	2.47	2.47	0.30058	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.95166	0.8433	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.976;0.986	D	0.94680	0.7864	9	0.87932	D	0	.	8.7975	0.34887	1.0:0.0:0.0:0.0	.	433;459	Q9C037-2;Q9C037	.;TRIM4_HUMAN	S	459;433;289	ENSP00000348216:F459S;ENSP00000275736:F433S	ENSP00000275736:F433S	F	-	2	0	TRIM4	99327849	1.000000	0.71417	0.917000	0.36280	0.878000	0.50629	5.503000	0.66962	1.397000	0.46682	0.533000	0.62120	TTC		0.537	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		G	99489913	A	G	99489913	3	3	213	1	0	0	0	0	1	0	0	0	16514	246	9	4	130	4	TRIM4	7	99489913	Missense_Mutation	SNP	A	TCGA-24-1413-01A-01W-0494-09		99489913	59648750	17	12259											
SSBP1	6742	genome.wustl.edu	37	7	141443442	141443442	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr7:141443442T>G	ENST00000481508.1	+	4	602	c.167T>G	c.(166-168)aTa>aGa	p.I56R	SSBP1_ENST00000265304.6_Missense_Mutation_p.I56R|SSBP1_ENST00000498107.1_Missense_Mutation_p.I56R|SSBP1_ENST00000484178.1_Missense_Mutation_p.I56R|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000465582.1_Missense_Mutation_p.I56R	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	56	SSB.				DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.I56R(1)		large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					CCAGTCACAATATTTTCTCTA	0.433																																																1	Substitution - Missense(1)	ovary(1)	7											132	131	131					7																	141443442		2203	4300	6503	141089911	SO:0001583	missense	6742			M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"single-stranded DNA-binding protein", "single-stranded DNA binding protein 1"			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.167T>G	7.37:g.141443442T>G	ENSP00000419665:p.Ile56Arg		141089911		Missense_Mutation	SNP	ENST00000481508.1	37	CCDS5866.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384287	0.82792	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000463093;ENST00000484178;ENST00000481508	.	.	.	5.66	5.66	0.87406	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.946	T	0.67745	-0.5591	9	0.62326	D	0.03	-41.2488	15.8917	0.79303	0.0:0.0:0.0:1.0	.	56;56	B7Z268;Q04837	.;SSBP_HUMAN	R	56	.	ENSP00000265304:I56R	I	+	2	0	SSBP1	141089911	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.043000	0.76572	2.158000	0.67659	0.459000	0.35465	ATA		0.433	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349187.1	NM_003143		G	141443442	T	G	141443442	3	3	213	1	0	0	0	0	1	0	0	0	15181	1406	49	5	177	5	SSBP1	7	141443442	Missense_Mutation	SNP	T	TCGA-24-1413-01A-01W-0494-09	41953529	141443442	17695221	18	12260											
ADHFE1	137872	genome.wustl.edu	37	8	67357524	67357524	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr8:67357524C>A	ENST00000396623.3	+	6	456	c.425C>A	c.(424-426)aCc>aAc	p.T142N	ADHFE1_ENST00000415254.1_Missense_Mutation_p.T94N|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T142N|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	142					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.T94N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGTGGCTCTACCATGGACACC	0.463																																																1	Substitution - Missense(1)	ovary(1)	8											198	168	178					8																	67357524		2203	4300	6503	67520078	SO:0001583	missense	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.425C>A	8.37:g.67357524C>A	ENSP00000379865:p.Thr142Asn		67520078	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195352	0.58126	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.85	4.98	0.66077	Alcohol dehydrogenase, iron-type (1);	0.293961	0.36555	N	0.002522	T	0.42108	0.1188	L	0.39397	1.21	0.30301	N	0.789429	B	0.34313	0.448	P	0.45794	0.493	T	0.51317	-0.8721	10	0.72032	D	0.01	-9.6334	6.9602	0.24593	0.0:0.7134:0.0:0.2866	.	142	Q8IWW8	HOT_HUMAN	N	77;142;142;94	ENSP00000428055:T77N;ENSP00000368695:T142N;ENSP00000379865:T142N;ENSP00000407115:T94N	ENSP00000368695:T142N	T	+	2	0	ADHFE1	67520078	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.818000	0.55678	1.484000	0.48361	0.655000	0.94253	ACC		0.463	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		A	67357524	C	A	67357524	3	1	213	1	0	0	0	0	1	0	0	0	314	507	18	3	447	3	ADHFE1	8	67357524	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09		67357524	79006498	19	12261											
TRPA1	8989	genome.wustl.edu	37	8	72950287	72950287	+	Silent	SNP	A	A	G			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr8:72950287A>G	ENST00000262209.4	-	20	2523	c.2316T>C	c.(2314-2316)acT>acC	p.T772T	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	772					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.T772T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAATCATACAAGTTTTTATTA	0.259																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	8											22	23	23					8																	72950287		2188	4260	6448	73112841	SO:0001819	synonymous_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2316T>C	8.37:g.72950287A>G			73112841	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.259	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		G	72950287	A	G	72950287	2	3	213	1	0	0	0	0	0	0	0	1	16577	59	3	4		4	TRPA1	8	72950287	Silent	SNP	A	TCGA-24-1413-01A-01W-0494-09	5592763	72950287	73413735	20	12262											
IFNA1	3439	genome.wustl.edu	37	9	21440580	21440580	+	Missense_Mutation	SNP	A	A	G	rs375932242		TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr9:21440580A>G	ENST00000276927.1	+	1	141	c.74A>G	c.(73-75)gAt>gGt	p.D25G		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	25					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.D25G(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CTGGGCTGTGATCTCCCTGAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	9						A	GLY/ASP	1,4405	2.1+/-5.4	0,1,2202	84	80	81		74	2	0.5	9		81	0,8596		0,0,4298	no	missense	IFNA1	NM_024013.2	94	0,1,6500	GG,GA,AA		0.0,0.0227,0.0077	benign	25/190	21440580	1,13001	2203	4298	6501	21430580	SO:0001583	missense	3439				CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"Interferons"	5417	protein-coding gene	gene with protein product	"IFN-alpha 1b", "interferon alpha 1b"	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.74A>G	9.37:g.21440580A>G	ENSP00000276927:p.Asp25Gly		21430580	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000276927.1	37	CCDS6508.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124443	0.56613	2.27E-4	0.0	ENSG00000197919	ENST00000276927	T	0.05717	3.4	3.27	2.05	0.26809	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.565659	0.18375	N	0.143150	T	0.11922	0.0290	M	0.88512	2.96	0.28334	N	0.921641	B	0.24618	0.107	B	0.31614	0.133	T	0.17349	-1.0372	10	0.66056	D	0.02	.	3.4033	0.07331	0.6289:0.2406:0.1304:0.0	.	25	P01562	IFNA1_HUMAN	G	25	ENSP00000276927:D25G	ENSP00000276927:D25G	D	+	2	0	IFNA1	21430580	0.080000	0.21391	0.480000	0.27341	0.785000	0.44390	1.868000	0.39509	0.415000	0.25817	0.438000	0.28831	GAT		0.532	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051902.1	NM_024013		G	21440580	A	G	21440580	3	3	213	1	0	0	0	0	1	0	0	0	7531	333	12	4	76	4	IFNA1	9	21440580	Missense_Mutation	SNP	A	TCGA-24-1413-01A-01W-0494-09		21440580	119772851	21	12263											
GRID1	2894	genome.wustl.edu	37	10	87966324	87966324	+	Missense_Mutation	SNP	G	G	A	rs201908927		TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr10:87966324G>A	ENST00000327946.7	-	3	402	c.317C>T	c.(316-318)aCg>aTg	p.T106M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	106					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.T106M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CATGGCATCCGTGAGGGACTG	0.612										Multiple Myeloma(13;0.14)																																						1	Substitution - Missense(1)	ovary(1)	10											138	86	103					10																	87966324		2203	4300	6503	87956304	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.317C>T	10.37:g.87966324G>A	ENSP00000330148:p.Thr106Met		87956304	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862897	0.91511	.	.	ENSG00000182771	ENST00000327946	D	0.83250	-1.7	5.92	5.92	0.95590	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.90169	0.4234	10	0.87932	D	0	.	19.2962	0.94122	0.0:0.0:1.0:0.0	.	106	Q9ULK0	GRID1_HUMAN	M	106	ENSP00000330148:T106M	ENSP00000330148:T106M	T	-	2	0	GRID1	87956304	1.000000	0.71417	0.940000	0.37924	0.919000	0.55068	9.854000	0.99522	2.795000	0.96236	0.655000	0.94253	ACG		0.612	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		A	87966324	G	A	87966324	3	1	213	1	0	0	0	0	1	0	0	0	6771	1145	40	1	2768	1	GRID1	10	87966324	Missense_Mutation	SNP	G	TCGA-24-1413-01A-01W-0494-09		87966324	47568423	22	12264											
SLC22A25	387601	genome.wustl.edu	37	11	62931459	62931459	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr11:62931459C>T	ENST00000306494.6	-	9	1480	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.R494Q(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GGGCAGGGGTCGAGAATATAT	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											154	161	158					11																	62931459		2201	4298	6499	62688035	SO:0001583	missense	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1481G>A	11.37:g.62931459C>T	ENSP00000307443:p.Arg494Gln		62688035		Missense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686591	0.68157	.	.	ENSG00000196600	ENST00000306494	T	0.58358	0.34	4.56	-0.00587	0.14015	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.401085	0.26792	N	0.022468	T	0.27629	0.0679	N	0.16037	0.36	0.09310	N	1	B	0.17465	0.022	B	0.04013	0.001	T	0.09335	-1.0679	10	0.52906	T	0.07	.	3.3652	0.07201	0.0854:0.1386:0.3502:0.4259	.	494	Q6T423	S22AP_HUMAN	Q	494	ENSP00000307443:R494Q	ENSP00000307443:R494Q	R	-	2	0	SLC22A25	62688035	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	0.932000	0.28884	-0.497000	0.06641	-0.193000	0.12794	CGA		0.498	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		T	62931459	C	T	62931459	3	4	213	1	0	0	0	0	1	0	0	0	14457	884	31	1	166	1	SLC22A25	11	62931459	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09		62931459	72075057	23	12265											
NARS2	79731	genome.wustl.edu	37	11	78279748	78279748	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr11:78279748C>G	ENST00000281038.5	-	3	677	c.302G>C	c.(301-303)aGt>aCt	p.S101T	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	101					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.S101T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TTTGGATGGACTTTTTATCAG	0.343																																																1	Substitution - Missense(1)	ovary(1)	11											177	170	173					11																	78279748		2200	4291	6491	77957396	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.302G>C	11.37:g.78279748C>G	ENSP00000281038:p.Ser101Thr		77957396	G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549321	0.86127	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.21191	2.02;2.02	5.56	4.64	0.57946	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08046	-1.0741	10	0.27785	T	0.31	-13.8573	15.3253	0.74157	0.0:0.8592:0.1408:0.0	.	101	Q96I59	SYNM_HUMAN	T	101	ENSP00000281038:S101T;ENSP00000432240:S101T	ENSP00000281038:S101T	S	-	2	0	NARS2	77957396	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.495000	0.73665	1.326000	0.45319	0.650000	0.86243	AGT		0.343	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		G	78279748	C	G	78279748	3	3	213	1	0	0	0	0	1	0	0	0	10171	565	20	3	1179	3	NARS2	11	78279748	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09	15348289	78279748	56726768	24	12266											
CACNA2D4	93589	genome.wustl.edu	37	12	1996218	1996218	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr12:1996218C>A	ENST00000382722.5	-	7	1161	c.799G>T	c.(799-801)Gat>Tat	p.D267Y	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.D203Y|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.D267Y|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.D267Y|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.D203Y|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	267					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D267Y(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCATTCTCATCAGGTGTCCAT	0.517																																					Colon(2;101 179 21030 23310 28141)											1	Substitution - Missense(1)	ovary(1)	12											58	56	56					12																	1996218		1858	4097	5955	1866479	SO:0001583	missense	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.799G>T	12.37:g.1996218C>A	ENSP00000372169:p.Asp267Tyr		1866479	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675122	0.88445	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.08896	3.04	5.32	5.32	0.75619	.	0.043371	0.85682	D	0.000000	T	0.34542	0.0901	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.23013	-1.0200	10	0.87932	D	0	.	18.9993	0.92826	0.0:1.0:0.0:0.0	.	267	Q7Z3S7	CA2D4_HUMAN	Y	203;267;267	ENSP00000372169:D267Y	ENSP00000280663:D267Y	D	-	1	0	CACNA2D4	1866479	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.703000	0.84585	2.490000	0.84030	0.555000	0.69702	GAT		0.517	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			A	1996218	C	A	1996218	3	1	213	1	0	0	0	0	1	0	0	0	2551	826	29	3	2742	3	CACNA2D4	12	1996218	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09		1996218	131855677	25	12267											
PPM1H	57460	genome.wustl.edu	37	12	63087767	63087767	+	Silent	SNP	G	G	A			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr12:63087767G>A	ENST00000228705.6	-	7	1386	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	362	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)	p.T362T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CATCCTCAATGGTTTTGTATG	0.483																																																1	Substitution - coding silent(1)	ovary(1)	12											62	66	64					12																	63087767		1930	4131	6061	61374034	SO:0001819	synonymous_variant	57460			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.1086C>T	12.37:g.63087767G>A			61374034	B1Q2A9|B2RXG4|Q6PI86	Silent	SNP	ENST00000228705.6	37	CCDS44934.1																																																																																				0.483	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		A	63087767	G	A	63087767	2	1	213	1	0	0	0	0	0	0	0	1	12344	1335	47	2		2	PPM1H	12	63087767	Silent	SNP	G	TCGA-24-1413-01A-01W-0494-09	61091549	63087767	70764128	26	12268											
RHOF	54509	genome.wustl.edu	37	12	122217458	122217458	+	Missense_Mutation	SNP	G	G	C	rs377473825		TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr12:122217458G>C	ENST00000267205.2	-	5	1210	c.582C>G	c.(580-582)agC>agG	p.S194R	RHOF_ENST00000537265.1_Missense_Mutation_p.S94R|TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	194					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S194R(1)		large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCTTCAGAGCGCTGAGAGCCA	0.637																																																1	Substitution - Missense(1)	ovary(1)	12											57	57	57					12																	122217458		2203	4300	6503	120701841	SO:0001583	missense	54509			AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"ras homolog gene family, member F (in filopodia)"	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.582C>G	12.37:g.122217458G>C	ENSP00000267205:p.Ser194Arg		120701841	Q8WVB1|Q9NXH6	Missense_Mutation	SNP	ENST00000267205.2	37	CCDS9222.1	.	.	.	.	.	.	.	.	.	.	g	3.676	-0.066522	0.07273	.	.	ENSG00000139725	ENST00000267205	T	0.69175	-0.38	4.88	-9.76	0.00503	.	0.290468	0.38058	N	0.001829	T	0.50222	0.1603	L	0.42245	1.32	0.09310	N	0.999997	B	0.10296	0.003	B	0.20184	0.028	T	0.26395	-1.0104	10	0.24483	T	0.36	.	15.0132	0.71565	0.289:0.0893:0.6217:0.0	.	194	Q9HBH0	RHOF_HUMAN	R	194	ENSP00000267205:S194R	ENSP00000267205:S194R	S	-	3	2	RHOF	120701841	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.726000	0.00193	-4.278000	0.00059	-4.371000	0.00006	AGC		0.637	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			C	122217458	G	C	122217458	3	2	213	1	0	0	0	0	1	0	0	0	13341	1078	38	3	57	3	RHOF	12	122217458	Missense_Mutation	SNP	G	TCGA-24-1413-01A-01W-0494-09	59129691	122217458	11634437	27	12269											
BAZ1A	11177	genome.wustl.edu	37	14	35331430	35331430	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr14:35331430T>A	ENST00000382422.2	-	2	539	c.212A>T	c.(211-213)gAa>gTa	p.E71V	BAZ1A_ENST00000360310.1_Missense_Mutation_p.E71V|BAZ1A_ENST00000358716.4_Missense_Mutation_p.E71V|BAZ1A_ENST00000553853.1_5'UTR			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	71	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.E71V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TGCTTTTTTTTCTGACTCAAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	14											156	159	158					14																	35331430		2203	4300	6503	34401181	SO:0001583	missense	11177			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.212A>T	14.37:g.35331430T>A	ENSP00000371859:p.Glu71Val		34401181	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.829154	0.90955	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	D;D;D	0.97850	-4.45;-4.57;-4.57	5.47	5.47	0.80525	WSTF/Acf1/Cbp146 (2);	0.094831	0.64402	D	0.000001	D	0.98947	0.9642	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99737	1.1014	10	0.87932	D	0	.	15.8475	0.78903	0.0:0.0:0.0:1.0	.	71;71	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	V	71	ENSP00000351555:E71V;ENSP00000371859:E71V;ENSP00000353458:E71V	ENSP00000351555:E71V	E	-	2	0	BAZ1A	34401181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.612000	0.82975	2.201000	0.70794	0.528000	0.53228	GAA		0.428	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			A	35331430	T	A	35331430	3	1	213	1	0	0	0	0	1	0	0	0	1329	1783	62	5	4558	5	BAZ1A	14	35331430	Missense_Mutation	SNP	T	TCGA-24-1413-01A-01W-0494-09		35331430	72018110	28	12270											
GPHB5	122876	genome.wustl.edu	37	14	63779817	63779817	+	RNA	SNP	T	T	C			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr14:63779817T>C	ENST00000539258.1	-	0	273							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.E72G(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		ATAGGGGGGTTCCAGAATGGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	14											66	70	69					14																	63779817		1870	4120	5990	62849570			122876			AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63779817T>C			62849570	Q6NTD0|Q8NFW2	Missense_Mutation	SNP	ENST00000539258.1	37																																																																																					0.433	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		C	63779817	T	C	63779817	1	2	213	0	1	0	0	0	0	0	0	0	6609	1783	62	4		4	GPHB5	14	63779817	RNA	SNP	T	TCGA-24-1413-01A-01W-0494-09	28448387	63779817	43569723	29	12271											
OR4N4	283694	genome.wustl.edu	37	15	22383320	22383320	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr15:22383320A>T	ENST00000328795.4	+	1	939	c.848A>T	c.(847-849)aAt>aTt	p.N283I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N283I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCATTGATGAATCCTATGATT	0.403																																																1	Substitution - Missense(1)	ovary(1)	15											135	123	127					15																	22383320		2188	4259	6447	19884684	SO:0001583	missense	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.848A>T	15.37:g.22383320A>T	ENSP00000332500:p.Asn283Ile		19884684	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.551925	0.45487	.	.	ENSG00000183706	ENST00000328795	T	0.59638	0.25	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.71600	0.3359	M	0.84326	2.69	0.38631	D	0.951388	D	0.67145	0.996	P	0.60682	0.878	T	0.77512	-0.2560	10	0.87932	D	0	-4.4181	9.7407	0.40416	1.0:0.0:0.0:0.0	.	283	Q8N0Y3	OR4N4_HUMAN	I	283	ENSP00000332500:N283I	ENSP00000332500:N283I	N	+	2	0	OR4N4	19884684	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	8.318000	0.89990	1.454000	0.47793	0.332000	0.21555	AAT		0.403	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			T	22383320	A	T	22383320	3	4	213	1	0	0	0	0	1	0	0	0	11078	101	4	5	850	5	OR4N4	15	22383320	Missense_Mutation	SNP	A	TCGA-24-1413-01A-01W-0494-09		22383320	80148072	30	12272											
TCF12	6938	genome.wustl.edu	37	15	57574749	57574749	+	Silent	SNP	G	G	C			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr15:57574749G>C	ENST00000267811.5	+	19	2317	c.2013G>C	c.(2011-2013)ggG>ggC	p.G671G	TCF12_ENST00000559710.1_Silent_p.G305G|TCF12_ENST00000537840.1_Silent_p.G435G|TCF12_ENST00000559703.1_Silent_p.G328G|TCF12_ENST00000543579.1_Silent_p.G525G|TCF12_ENST00000452095.2_Silent_p.G691G|TCF12_ENST00000557843.1_Silent_p.G671G|TCF12_ENST00000343827.3_Silent_p.G501G|TCF12_ENST00000438423.2_Silent_p.G695G|TCF12_ENST00000333725.5_Silent_p.G695G	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	671					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.G695G(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCCATCCTGGGCTTAGTGAAA	0.463			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	1	Substitution - coding silent(1)	ovary(1)	15											140	138	139					15																	57574749		2192	4292	6484	55362041	SO:0001819	synonymous_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.2013G>C	15.37:g.57574749G>C			55362041	Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	CCDS10159.1																																																																																				0.463	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		C	57574749	G	C	57574749	2	2	213	1	0	0	0	0	0	0	0	1	15687	1190	42	3		3	TCF12	15	57574749	Silent	SNP	G	TCGA-24-1413-01A-01W-0494-09	35191429	57574749	44956643	31	12273											
MKL2	57496	genome.wustl.edu	37	16	14339512	14339512	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr16:14339512T>G	ENST00000341243.5	+	9	1174	c.1174T>G	c.(1174-1176)Tta>Gta	p.L392V	MKL2_ENST00000571589.1_Missense_Mutation_p.L403V|MKL2_ENST00000318282.5_Missense_Mutation_p.L403V|MKL2_ENST00000574045.1_Missense_Mutation_p.L403V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	392	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.L403V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGGATGACTTAAAGGTGAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	16											156	139	144					16																	14339512		2197	4300	6497	14247013	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1174T>G	16.37:g.14339512T>G	ENSP00000345841:p.Leu392Val		14247013	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	T	19.72	3.880876	0.72294	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.98	2.56	0.30785	.	0.054127	0.64402	D	0.000002	T	0.71525	0.3350	M	0.82433	2.59	0.36839	D	0.88729	D;D	0.71674	0.984;0.998	P;D	0.77557	0.726;0.99	T	0.71547	-0.4560	9	0.59425	D	0.04	-10.7223	4.6123	0.12408	0.1298:0.2111:0.0:0.6592	.	403;403	B4DGT8;Q9ULH7-4	.;.	V	403;392	.	ENSP00000339086:L403V	L	+	1	2	MKL2	14247013	0.974000	0.33945	0.999000	0.59377	0.991000	0.79684	0.010000	0.13242	0.168000	0.19655	0.533000	0.62120	TTA		0.433	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		G	14339512	T	G	14339512	3	3	213	1	0	0	0	0	1	0	0	0	9602	1606	56	5	1241	5	MKL2	16	14339512	Missense_Mutation	SNP	T	TCGA-24-1413-01A-01W-0494-09		14339512	76015241	32	12274											
TP53	7157	genome.wustl.edu	37	17	7578257	7578257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr17:7578257C>A	ENST00000269305.4	-	6	781	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E198*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E198*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E198*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E198*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E198*	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	198	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E198*(27)|p.0?(8)|p.E198K(5)|p.?(5)|p.P191_E198>Q(3)|p.E105*(3)|p.E66*(3)|p.E198fs*11(2)|p.E198Q(2)|p.E198fs*7(1)|p.E198fs*49(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(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)	AAATTTCCTTCCACTCGGATA	0.547		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"	64	Substitution - Nonsense(33)|Whole gene deletion(8)|Substitution - Missense(7)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(2)|Deletion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)	urinary_tract(9)|breast(7)|ovary(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|lung(5)|prostate(5)|bone(4)|central_nervous_system(3)|oesophagus(3)|skin(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(2)|stomach(1)|soft_tissue(1)	17											112	100	104					17																	7578257		2203	4300	6503	7518982	SO:0001587	stop_gained	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.592G>T	17.37:g.7578257C>A	ENSP00000269305:p.Glu198*		7518982	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950903	0.53186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.9371	16.7921	0.85592	0.0:1.0:0.0:0.0	.	.	.	.	X	198;198;198;198;198;198;187;105;66;105;66	.	ENSP00000269305:E198X	E	-	1	0	TP53	7518982	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GAA		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578257	C	A	7578257	4	1	213	1	0	0	0	0	0	1	0	0	16381	864	30	3	702	3	TP53	17	7578257	Nonsense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09		7578257	73616953	33	12275											
MYH10	4628	genome.wustl.edu	37	17	8421974	8421974	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr17:8421974C>T	ENST00000269243.4	-	19	2524	c.2386G>A	c.(2386-2388)Gtt>Att	p.V796I	MYH10_ENST00000360416.3_Missense_Mutation_p.V827I|MYH10_ENST00000396239.1_Missense_Mutation_p.V817I|MYH10_ENST00000379980.4_Missense_Mutation_p.V812I	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	796	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.V796I(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCTCTGCAAACGGCCTGGAAG	0.423																																																1	Substitution - Missense(1)	ovary(1)	17											87	79	81					17																	8421974		2203	4300	6503	8362699	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2386G>A	17.37:g.8421974C>T	ENSP00000269243:p.Val796Ile		8362699	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207240	0.39003	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.93	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	L	0.36672	1.1	0.42502	D	0.992937	B;B;B	0.20988	0.05;0.04;0.05	B;B;B	0.18561	0.022;0.013;0.022	T	0.04216	-1.0968	10	0.29301	T	0.29	.	14.8644	0.70404	0.1436:0.8564:0.0:0.0	.	805;827;796	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	I	796;827;817;812	ENSP00000269243:V796I;ENSP00000353590:V827I;ENSP00000379539:V817I;ENSP00000369315:V812I	ENSP00000269243:V796I	V	-	1	0	MYH10	8362699	0.391000	0.25221	0.978000	0.43139	0.967000	0.64934	2.405000	0.44548	2.570000	0.86706	0.644000	0.83932	GTT		0.423	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			T	8421974	C	T	8421974	3	4	213	1	0	0	0	0	1	0	0	0	10030	536	19	1	3636	1	MYH10	17	8421974	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09	843717	8421974	72773236	34	12276											
ATAD5	79915	genome.wustl.edu	37	17	29162262	29162262	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr17:29162262C>T	ENST00000321990.4	+	2	1541	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	388					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S388F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GCTGGAAGTTCTGAAGCTGTG	0.363																																																1	Substitution - Missense(1)	ovary(1)	17											61	65	64					17																	29162262		2203	4300	6503	26186388	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1163C>T	17.37:g.29162262C>T	ENSP00000313171:p.Ser388Phe		26186388	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	9.885	1.202583	0.22121	.	.	ENSG00000176208	ENST00000321990	T	0.11169	2.8	5.91	5.91	0.95273	.	0.465436	0.24771	N	0.035725	T	0.22742	0.0549	L	0.59436	1.845	0.32867	D	0.508686	D;P	0.57571	0.98;0.93	P;P	0.56700	0.804;0.467	T	0.12553	-1.0543	10	0.56958	D	0.05	.	11.5421	0.50672	0.0:0.8626:0.0:0.1374	.	388;388	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	F	388	ENSP00000313171:S388F	ENSP00000313171:S388F	S	+	2	0	ATAD5	26186388	0.807000	0.29009	1.000000	0.80357	0.973000	0.67179	1.181000	0.32017	2.813000	0.96785	0.655000	0.94253	TCT		0.363	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		T	29162262	C	T	29162262	3	4	213	1	0	0	0	0	1	0	0	0	1076	913	32	2	1169	2	ATAD5	17	29162262	Missense_Mutation	SNP	C	TCGA-24-1413-01A-01W-0494-09	20740288	29162262	52032948	35	12277											
ZNF446	55663	genome.wustl.edu	37	19	58988591	58988591	+	Silent	SNP	A	A	G			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr19:58988591A>G	ENST00000594369.1	+	2	387	c.6A>G	c.(4-6)ccA>ccG	p.P2P	ZNF446_ENST00000335841.4_Silent_p.P2P|ZNF446_ENST00000596341.1_Silent_p.P2P|CTD-2619J13.23_ENST00000598051.1_RNA	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	2					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P2P(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAAGAATGCCATCCCCTCTGG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	19											98	112	107					19																	58988591		2198	4292	6490	63680403	SO:0001819	synonymous_variant	55663				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.6A>G	19.37:g.58988591A>G			63680403		Silent	SNP	ENST00000594369.1	37	CCDS12982.1																																																																																				0.607	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		G	58988591	A	G	58988591	2	3	213	1	0	0	0	0	0	0	0	1	17919	204	8	4		4	ZNF446	19	58988591	Silent	SNP	A	TCGA-24-1413-01A-01W-0494-09		58988591	140392	36	12278											
TPTE	7179	genome.wustl.edu	37	21	10941945	10941945	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1413-01A-01W-0494-09	TCGA-24-1413-10A-01W-0495-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1b2d2cde-4553-472e-82f1-8224745ac1eb	906d4b39-24b4-4bd1-b186-bd92dcfab23e	g.chr21:10941945G>T	ENST00000361285.4	-	14	1087	c.758C>A	c.(757-759)tCt>tAt	p.S253Y	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S215Y|TPTE_ENST00000298232.7_Missense_Mutation_p.S235Y	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	253	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S235Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTCCAGAAGATGGAAATGA	0.284																																																1	Substitution - Missense(1)	ovary(1)	21											216	208	211					21																	10941945		2203	4298	6501	9963816	SO:0001583	missense	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.758C>A	21.37:g.10941945G>T	ENSP00000355208:p.Ser253Tyr		9963816	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.88	1.475634	0.26511	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.33438	1.41;1.41;1.41	1.8	1.8	0.24995	Phosphatase tensin type (1);	0.000000	0.85682	U	0.000000	T	0.62183	0.2407	H	0.95151	3.63	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.81914	0.995;0.995;0.959	T	0.70949	-0.4733	10	0.87932	D	0	-19.379	9.6369	0.39814	0.0:0.0:1.0:0.0	.	215;235;253	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Y	235;253;215	ENSP00000298232:S235Y;ENSP00000355208:S253Y;ENSP00000344441:S215Y	ENSP00000298232:S235Y	S	-	2	0	TPTE	9963816	1.000000	0.71417	0.998000	0.56505	0.096000	0.18686	7.245000	0.78237	1.318000	0.45170	0.194000	0.17425	TCT		0.284	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			T	10941945	G	T	10941945	3	4	213	1	0	0	0	0	1	0	0	0	16430	942	33	3	941	3	TPTE	21	10941945	Missense_Mutation	SNP	G	TCGA-24-1413-01A-01W-0494-09		10941945	37187950	37	12279											
ALPL	249	genome.wustl.edu	37	1	21887655	21887655	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr1:21887655G>A	ENST00000374840.3	+	4	497	c.247G>A	c.(247-249)Gag>Aag	p.E83K	ALPL_ENST00000374832.1_Missense_Mutation_p.E83K|ALPL_ENST00000539907.1_Intron|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.E83K|ALPL_ENST00000540617.1_Missense_Mutation_p.E28K	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	83					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.E83K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CAACCCTGGGGAGGAGACCAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											86	60	69					1																	21887655		2202	4300	6502	21760242	SO:0001583	missense	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.247G>A	1.37:g.21887655G>A	ENSP00000363973:p.Glu83Lys		21760242	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480171	0.96307	.	.	ENSG00000162551	ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	5.29	5.29	0.74685	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98710	0.9567	M	0.90082	3.085	0.80722	D	1	B;D	0.89917	0.318;1.0	B;D	0.91635	0.385;0.999	D	0.99785	1.1029	10	0.87932	D	0	-15.0435	17.4801	0.87670	0.0:0.0:1.0:0.0	.	31;83	B7Z1D1;P05186	.;PPBT_HUMAN	K	28;83;83;83	ENSP00000442672:E28K;ENSP00000363973:E83K;ENSP00000363965:E83K;ENSP00000394765:E83K	ENSP00000363965:E83K	E	+	1	0	ALPL	21760242	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.404000	0.97306	2.476000	0.83614	0.462000	0.41574	GAG		0.622	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		A	21887655	G	A	21887655	3	1	214	1	0	0	0	0	1	0	0	0	547	1175	41	2	257	2	ALPL	1	21887655	Missense_Mutation	SNP	G	TCGA-24-1416-01A-01W-0549-09		21887655	227362966	1	12280											
CPS1	1373	genome.wustl.edu	37	2	211460244	211460244	+	Silent	SNP	C	C	T			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr2:211460244C>T	ENST00000233072.5	+	13	1493	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Silent_p.L439L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	433					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L433L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATCAGGAGGTCTGTCCATTGG	0.373																																																1	Substitution - coding silent(1)	ovary(1)	2											155	173	167					2																	211460244		2203	4300	6503	211168489	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1297C>T	2.37:g.211460244C>T			211168489	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																				0.373	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			T	211460244	C	T	211460244	2	4	214	1	0	0	0	0	0	0	0	1	3823	912	32	2		2	CPS1	2	211460244	Silent	SNP	C	TCGA-24-1416-01A-01W-0549-09		211460244	31739129	2	12281											
CSPG5	10675	genome.wustl.edu	37	3	47618974	47618974	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr3:47618974C>T	ENST00000383738.2	-	2	2640	c.542G>A	c.(541-543)gGc>gAc	p.G181D	CSPG5_ENST00000456150.1_Missense_Mutation_p.G43D|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.G181D	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	181					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)	p.G181D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGTGTGCTGCCCCCCAGGTT	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											35	40	38					3																	47618974		2203	4300	6503	47593978	SO:0001583	missense	10675			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.542G>A	3.37:g.47618974C>T	ENSP00000373244:p.Gly181Asp		47593978	Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792989	0.70452	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.50548	0.74;0.74;0.74	4.02	4.02	0.46733	Chondroitin sulphate attachment (1);	0.572622	0.16734	N	0.201710	T	0.42154	0.1190	N	0.24115	0.695	0.35053	D	0.760818	P;P	0.49559	0.892;0.925	P;B	0.48368	0.575;0.439	T	0.58020	-0.7710	10	0.66056	D	0.02	-11.6452	13.325	0.60454	0.0:1.0:0.0:0.0	.	181;181	O95196;O95196-2	CSPG5_HUMAN;.	D	43;181;181	ENSP00000392096:G43D;ENSP00000373244:G181D;ENSP00000264723:G181D	ENSP00000264723:G181D	G	-	2	0	CSPG5	47593978	0.230000	0.23740	1.000000	0.80357	0.729000	0.41735	1.051000	0.30417	2.237000	0.73441	0.643000	0.83706	GGC		0.627	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		T	47618974	C	T	47618974	3	4	214	1	0	0	0	0	1	0	0	0	3961	739	26	2	1093	2	CSPG5	3	47618974	Missense_Mutation	SNP	C	TCGA-24-1416-01A-01W-0549-09		47618974	150403456	3	12282											
RAD54L2	23132	genome.wustl.edu	37	3	51696706	51696706	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr3:51696706G>T	ENST00000409535.2	+	22	3799	c.3674G>T	c.(3673-3675)cGa>cTa	p.R1225L	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R919L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1225						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.R1225L(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ACTGAGCCTCGACTAGGGGGT	0.617																																																1	Substitution - Missense(1)	ovary(1)	3											38	39	39					3																	51696706		2203	4300	6503	51671746	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3674G>T	3.37:g.51696706G>T	ENSP00000386520:p.Arg1225Leu		51671746	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913101	0.17907	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.93712	-3.17;-3.27	5.54	4.66	0.58398	.	0.253833	0.31636	N	0.007307	D	0.83229	0.5209	N	0.08118	0	0.27539	N	0.950846	B;B	0.29646	0.253;0.154	B;B	0.25506	0.061;0.042	T	0.75465	-0.3308	10	0.40728	T	0.16	-0.9474	9.2603	0.37608	0.1582:0.0:0.8418:0.0	.	1225;814	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	L	1225;919	ENSP00000386520:R1225L;ENSP00000296477:R919L	ENSP00000296477:R919L	R	+	2	0	RAD54L2	51671746	0.710000	0.27896	0.999000	0.59377	0.395000	0.30598	1.068000	0.30629	2.607000	0.88179	0.655000	0.94253	CGA		0.617	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		T	51696706	G	T	51696706	3	4	214	1	0	0	0	0	1	0	0	0	12997	1058	37	3	3756	3	RAD54L2	3	51696706	Missense_Mutation	SNP	G	TCGA-24-1416-01A-01W-0549-09	4077732	51696706	146325724	4	12283											
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	3											99	89	92					3																	178952085		1912	4130	6042	180434779	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		180434779	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178952085	A	G	178952085	3	3	214	1	0	0	0	0	1	0	0	0	11913	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-24-1416-01A-01W-0549-09	127255379	178952085	19070345	5	12284											
UGT2B11	10720	genome.wustl.edu	37	4	70080154	70080154	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr4:70080154C>G	ENST00000446444.1	-	1	295	c.287G>C	c.(286-288)aGa>aCa	p.R96T	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	96					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R96T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCTGACCATCTCTTAACCTG	0.308																																																1	Substitution - Missense(1)	ovary(1)	4											70	87	81					4																	70080154		2195	4294	6489	70114743	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.287G>C	4.37:g.70080154C>G	ENSP00000387683:p.Arg96Thr		70114743	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.826948	0.00584	.	.	ENSG00000213759	ENST00000446444	T	0.59364	0.27	1.96	-3.91	0.04168	.	1.014600	0.07945	N	0.979971	T	0.24005	0.0581	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.17501	-1.0367	10	0.07644	T	0.81	.	0.6572	0.00836	0.462:0.1497:0.1618:0.2265	.	96	O75310	UDB11_HUMAN	T	96	ENSP00000387683:R96T	ENSP00000387683:R96T	R	-	2	0	UGT2B11	70114743	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.545000	0.06069	-1.403000	0.02053	0.184000	0.17185	AGA		0.308	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		G	70080154	C	G	70080154	3	3	214	1	0	0	0	0	1	0	0	0	16957	913	32	3	1326	3	UGT2B11	4	70080154	Missense_Mutation	SNP	C	TCGA-24-1416-01A-01W-0549-09		70080154	121074122	6	12285											
CCNG2	901	genome.wustl.edu	37	4	78087044	78087044	+	Silent	SNP	C	C	T			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr4:78087044C>T	ENST00000316355.5	+	8	1358	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	CCNG2_ENST00000502280.1_Silent_p.F334F|CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000395640.1_Silent_p.F334F|CCNG2_ENST00000354403.5_Intron	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	334					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)		p.F334F(1)		breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTCAACTTCAAAGTGGCAC	0.403																																																1	Substitution - coding silent(1)	ovary(1)	4											103	101	102					4																	78087044		2203	4300	6503	78306068	SO:0001819	synonymous_variant	901			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.1002C>T	4.37:g.78087044C>T			78306068	B4DF25|Q6FGA7|Q6FGC6	Silent	SNP	ENST00000316355.5	37	CCDS3581.1																																																																																				0.403	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		T	78087044	C	T	78087044	2	4	214	1	0	0	0	0	0	0	0	1	2924	825	29	2		2	CCNG2	4	78087044	Silent	SNP	C	TCGA-24-1416-01A-01W-0549-09	8006890	78087044	113067232	7	12286											
ACTBL2	345651	genome.wustl.edu	37	5	56777653	56777653	+	Silent	SNP	G	G	C			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr5:56777653G>C	ENST00000423391.1	-	1	983	c.882C>G	c.(880-882)ctC>ctG	p.L294L	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	294						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L294L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TGTTGGCATAGAGATCCTTGC	0.488																																																1	Substitution - coding silent(1)	ovary(1)	5											122	109	114					5																	56777653		2203	4300	6503	56813410	SO:0001819	synonymous_variant	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.882C>G	5.37:g.56777653G>C			56813410	B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	ENST00000423391.1	37	CCDS34163.1																																																																																				0.488	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		C	56777653	G	C	56777653	2	2	214	1	0	0	0	0	0	0	0	1	194	929	33	3		3	ACTBL2	5	56777653	Silent	SNP	G	TCGA-24-1416-01A-01W-0549-09		56777653	124137607	8	12287											
PCDHA3	56145	genome.wustl.edu	37	5	140180972	140180972	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr5:140180972T>C	ENST00000522353.2	+	1	190	c.190T>C	c.(190-192)Ttc>Ctc	p.F64L	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.F64L	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	64	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F64L(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCGCCTGTTCCGGGTGGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	5											56	69	64					5																	140180972		2203	4295	6498	140161156	SO:0001583	missense	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.190T>C	5.37:g.140180972T>C	ENSP00000429808:p.Phe64Leu		140161156	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	t	12.14	1.847240	0.32606	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38887	1.11;1.11	4.48	4.48	0.54585	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.44097	U	0.000486	T	0.29288	0.0729	L	0.37507	1.11	0.22796	N	0.998727	P;B	0.35684	0.515;0.297	B;B	0.35655	0.207;0.173	T	0.12889	-1.0530	10	0.25751	T	0.34	.	6.998	0.24793	0.0:0.186:0.0:0.814	.	64;64	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	64	ENSP00000429808:F64L;ENSP00000434086:F64L	ENSP00000429808:F64L	F	+	1	0	PCDHA3	140161156	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	-0.407000	0.07178	1.807000	0.52817	0.477000	0.44152	TTC		0.612	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		C	140180972	T	C	140180972	3	2	214	1	0	0	0	0	1	0	0	0	11525	1725	60	4	192	4	PCDHA3	5	140180972	Missense_Mutation	SNP	T	TCGA-24-1416-01A-01W-0549-09	83403319	140180972	40734288	9	12288											
RIMS2	9699	genome.wustl.edu	37	8	105025713	105025713	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr8:105025713T>G	ENST00000507740.1	+	16	2766	c.2530T>G	c.(2530-2532)Tca>Gca	p.S844A	RIMS2_ENST00000262231.10_Missense_Mutation_p.S869A|RIMS2_ENST00000406091.3_Missense_Mutation_p.S1030A|RIMS2_ENST00000436393.2_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1092	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S844A(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAGATCCAGATCAACAGAACA	0.483										HNSCC(12;0.0054)																																						1	Substitution - Missense(1)	ovary(1)	8											93	94	94					8																	105025713		1984	4156	6140	105094889	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.2530T>G	8.37:g.105025713T>G	ENSP00000423559:p.Ser844Ala		105094889	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000507740.1	37	CCDS43761.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885347	0.51908	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T;T	0.19669	2.13;2.6;2.3;2.38;2.23	5.58	1.92	0.25849	.	.	.	.	.	T	0.17280	0.0415	L	0.34521	1.04	0.80722	D	1	P;P;P;P	0.40376	0.715;0.675;0.629;0.629	B;B;B;B	0.42959	0.403;0.228;0.105;0.173	T	0.03433	-1.1037	9	0.27785	T	0.31	.	9.8649	0.41136	0.0:0.1763:0.0:0.8237	.	1092;869;844;1030	Q9UQ26;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.	A	1030;1067;1030;1092;869;844;844	ENSP00000427018:S1030A;ENSP00000384892:S1030A;ENSP00000262231:S869A;ENSP00000423559:S844A;ENSP00000386228:S844A	ENSP00000262231:S869A	S	+	1	0	RIMS2	105094889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.066000	0.41452	0.092000	0.17331	0.377000	0.23210	TCA		0.483	RIMS2-005	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367215.1	NM_001100117		G	105025713	T	G	105025713	3	3	214	1	0	0	0	0	1	0	0	0	13371	1435	50	5	3354	5	RIMS2	8	105025713	Missense_Mutation	SNP	T	TCGA-24-1416-01A-01W-0549-09		105025713	41338309	10	12289											
OR5B21	219968	genome.wustl.edu	37	11	58275343	58275343	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr11:58275343G>A	ENST00000360374.2	-	1	235	c.236C>T	c.(235-237)aCg>aTg	p.T79M		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T79M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCAGCCACCGTTTTGGGGGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	11											92	81	84					11																	58275343		2201	4295	6496	58031919	SO:0001583	missense	219968				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"GPCR / Class A : Olfactory receptors"	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.236C>T	11.37:g.58275343G>A	ENSP00000353537:p.Thr79Met		58031919		Missense_Mutation	SNP	ENST00000360374.2	37	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.809898	0.00606	.	.	ENSG00000198283	ENST00000360374	T	0.01505	4.82	5.05	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	0.335277	0.21370	N	0.075642	T	0.00412	0.0013	N	0.00301	-1.68	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.40961	-0.9535	10	0.02654	T	1	-3.7091	1.9008	0.03267	0.4267:0.1322:0.3131:0.1281	.	79	A6NL26	OR5BL_HUMAN	M	79	ENSP00000353537:T79M	ENSP00000353537:T79M	T	-	2	0	OR5B21	58031919	0.002000	0.14202	0.081000	0.20488	0.033000	0.12548	1.862000	0.39448	-0.469000	0.06911	-0.378000	0.06908	ACG		0.512	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		A	58275343	G	A	58275343	3	1	214	1	0	0	0	0	1	0	0	0	11151	1145	40	1	695	1	OR5B21	11	58275343	Missense_Mutation	SNP	G	TCGA-24-1416-01A-01W-0549-09		58275343	76731173	11	12290											
HSP90AA1	3320	genome.wustl.edu	37	14	102551266	102551269	+	Frame_Shift_Del	DEL	TTTC	TTTC	-	rs3208444		TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	TTTC	TTTC	TTTC	-	TTTC	TTTC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr14:102551266_102551269delTTTC	ENST00000216281.8	-	5	935_938	c.730_733delGAAA	c.(730-735)gaaaaafs	p.EK246fs	HSP90AA1_ENST00000441629.2_Frame_Shift_Del_p.EK67fs|HSP90AA1_ENST00000334701.7_Frame_Shift_Del_p.EK368fs	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	246					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.E366fs*72(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	tctttttctttttcttcttctttg	0.382																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								101621022	SO:0001589	frameshift_variant	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.730_733delGAAA	14.37:g.102551266_102551269delTTTC	ENSP00000216281:p.Glu246fs		101621019	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Frame_Shift_Del	DEL	ENST00000216281.8	37	CCDS9967.1																																																																																				0.382	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		-	102551269	TTTC	-	102551266	7	5	214	1	0	1	0	1	0	0	0	0	7401	1850	64	0	1493	0	HSP90AA1	14	102551266	Frame_Shift_Del	DEL	TTTC	TCGA-24-1416-01A-01W-0549-09		102551266	4798274	12	12291											
TP53	7157	genome.wustl.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	17	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	7517819	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		7517819	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	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	214	1	0	0	0	0	1	0	0	0	16381	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-24-1416-01A-01W-0549-09		7577094	73618116	13	12292											
DCAF7	10238	genome.wustl.edu	37	17	61662659	61662659	+	Silent	SNP	C	C	T			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr17:61662659C>T	ENST00000310827.4	+	7	1042	c.825C>T	c.(823-825)gcC>gcT	p.A275A	DCAF7_ENST00000415273.2_Silent_p.A75A|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	275					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.A274A(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TTGCTTGGGCCCCACATTCAT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	17											104	101	102					17																	61662659		1962	4163	6125	59016391	SO:0001819	synonymous_variant	10238			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30915	protein-coding gene	gene with protein product	"seven-WD-repeat protein of the AN11 family-1", "human anthocyanin"	605973	"WD repeat domain 68"	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.825C>T	17.37:g.61662659C>T			59016391	B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37																																																																																					0.498	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		T	61662659	C	T	61662659	2	4	214	1	0	0	0	0	0	0	0	1	4275	610	22	2		2	DCAF7	17	61662659	Silent	SNP	C	TCGA-24-1416-01A-01W-0549-09	54085565	61662659	19532551	14	12293											
TMC2	117532	genome.wustl.edu	37	20	2593940	2593940	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chr20:2593940G>A	ENST00000358864.1	+	14	1859	c.1844G>A	c.(1843-1845)tGc>tAc	p.C615Y	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	615					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.C615Y(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAACTACTGCTGGTGCTGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	20											210	166	181					20																	2593940		2203	4300	6503	2541940	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1844G>A	20.37:g.2593940G>A	ENSP00000351732:p.Cys615Tyr		2541940	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907406	0.72868	.	.	ENSG00000149488	ENST00000358864	T	0.68181	-0.31	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	M	0.67625	2.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.78265	-0.2271	10	0.36615	T	0.2	-20.9487	16.0339	0.80608	0.0:0.0:1.0:0.0	.	446;447;615;615	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	Y	615	ENSP00000351732:C615Y	ENSP00000351732:C615Y	C	+	2	0	TMC2	2541940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.544000	0.98092	2.460000	0.83146	0.655000	0.94253	TGC		0.483	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			A	2593940	G	A	2593940	3	1	214	1	0	0	0	0	1	0	0	0	15985	1319	46	2	1898	2	TMC2	20	2593940	Missense_Mutation	SNP	G	TCGA-24-1416-01A-01W-0549-09		2593940	60431580	15	12294											
FATE1	89885	genome.wustl.edu	37	X	150890393	150890393	+	Silent	SNP	A	A	C			TCGA-24-1416-01A-01W-0549-09	TCGA-24-1416-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	21f5e805-c0b4-487b-9ccd-02963e2369ff	02b11291-821f-4f6a-9d90-c7ec9c2f3cb9	g.chrX:150890393A>C	ENST00000370350.3	+	4	445	c.360A>C	c.(358-360)gcA>gcC	p.A120A		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	120						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A120A(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGACAGATGCAGTGGCGCAGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	X											183	168	173					X																	150890393		2203	4300	6503	150641049	SO:0001819	synonymous_variant	89885			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.360A>C	X.37:g.150890393A>C			150641049		Silent	SNP	ENST00000370350.3	37	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	A	5.769	0.326338	0.10900	.	.	ENSG00000147378	ENST00000417321	T	0.51817	0.69	4.34	-2.98	0.05513	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30446	-0.9978	6	0.33940	T	0.23	3.6255	5.2085	0.15304	0.5886:0.0:0.2561:0.1553	.	.	.	.	R	77	ENSP00000400493:S77R	ENSP00000400493:S77R	S	+	1	0	FATE1	150641049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-1.036000	0.03287	-0.395000	0.06472	AGT		0.542	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		C	150890393	A	C	150890393	2	2	214	1	0	0	0	0	0	0	0	1	5693	175	7	5		5	FATE1	23	150890393	Silent	SNP	A	TCGA-24-1416-01A-01W-0549-09		150890393	4380167	16	12295											
HFM1	164045	genome.wustl.edu	37	1	91781479	91781479	+	Silent	SNP	T	T	C	rs138444412		TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr1:91781479T>C	ENST00000370425.3	-	28	3131	c.3033A>G	c.(3031-3033)ttA>ttG	p.L1011L	HFM1_ENST00000370424.3_Silent_p.L690L|HFM1_ENST00000294696.5_Silent_p.L243L|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1011	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L1011L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAAAATTTCTTAATATAACAG	0.308																																																1	Substitution - coding silent(1)	ovary(1)	1						T		0,4400		0,0,2200	66	66	66		3033	2.9	1	1	dbSNP_134	66	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	HFM1	NM_001017975.3		0,1,6496	CC,CT,TT		0.0116,0.0,0.0077		1011/1436	91781479	1,12993	2200	4297	6497	91554067	SO:0001819	synonymous_variant	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3033A>G	1.37:g.91781479T>C			91554067	B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2																																																																																				0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		C	91781479	T	C	91781479	2	2	215	1	0	0	0	0	0	0	0	1	7083	1751	61	4		4	HFM1	1	91781479	Silent	SNP	T	TCGA-24-1417-01A-01W-0549-09		91781479	157469142	1	12296											
LIX1L	128077	genome.wustl.edu	37	1	145498604	145498604	+	Missense_Mutation	SNP	G	G	C	rs201567685		TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr1:145498604G>C	ENST00000369308.3	+	6	914	c.840G>C	c.(838-840)tgG>tgC	p.W280C	RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	280								p.W280C(1)		large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTTGGACTGGGTGAGCCGGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											56	56	56					1																	145498604		2203	4300	6503	144209961	SO:0001583	missense	128077			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"Lix1 homolog (mouse) like", "Lix1 homolog (chicken)-like"			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.840G>C	1.37:g.145498604G>C	ENSP00000358314:p.Trp280Cys		144209961	Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	CCDS915.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332524	0.81801	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.76062	0.3935	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78760	-0.2078	9	0.87932	D	0	-20.8558	16.2306	0.82341	0.0:0.0:1.0:0.0	.	280	Q8IVB5	LIX1L_HUMAN	C	280;227	.	ENSP00000358314:W280C	W	+	3	0	LIX1L	144209961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.479000	0.97929	2.694000	0.91930	0.467000	0.42956	TGG		0.592	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		C	145498604	G	C	145498604	3	2	215	1	0	0	0	0	1	0	0	0	8832	1241	43	3	862	3	LIX1L	1	145498604	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	53717125	145498604	103752017	2	12297											
ADAM15	8751	genome.wustl.edu	37	1	155029719	155029719	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr1:155029719C>T	ENST00000356955.2	+	12	1305	c.1204C>T	c.(1204-1206)Ctc>Ttc	p.L402F	ADAM15_ENST00000449910.2_Missense_Mutation_p.L402F|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Missense_Mutation_p.L402F|ADAM15_ENST00000531455.1_Missense_Mutation_p.L412F|ADAM15_ENST00000271836.6_Missense_Mutation_p.L402F|ADAM15_ENST00000359280.4_Missense_Mutation_p.L402F|ADAM15_ENST00000368410.2_Missense_Mutation_p.L108F|ADAM15_ENST00000360674.4_Missense_Mutation_p.L402F|ADAM15_ENST00000355956.2_Missense_Mutation_p.L402F|ADAM15_ENST00000368413.1_Missense_Mutation_p.L108F|ADAM15_ENST00000447332.3_Missense_Mutation_p.L386F	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	402	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.L402F(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGAGAAAGCCCTCCTGGATGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											40	44	43					1																	155029719		2203	4300	6503	153296343	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1204C>T	1.37:g.155029719C>T	ENSP00000349436:p.Leu402Phe		153296343	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125822	0.77436	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;4.02;2.63;4.02;2.63	5.11	5.11	0.69529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.39687	N	0.001285	T	0.27313	0.0670	M	0.71296	2.17	0.52501	D	0.999956	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.99;1.0;1.0;1.0;0.996;1.0;1.0	T	0.00589	-1.1656	10	0.33940	T	0.23	.	16.0787	0.80985	0.0:1.0:0.0:0.0	.	412;419;386;402;402;402;402;402;402;402;399	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	F	402;402;402;402;402;402;108;402;108;412	ENSP00000349436:L402F;ENSP00000403843:L402F;ENSP00000352226:L402F;ENSP00000353892:L402F;ENSP00000357397:L402F;ENSP00000348227:L402F;ENSP00000357395:L108F;ENSP00000271836:L402F;ENSP00000357398:L108F;ENSP00000432927:L412F	ENSP00000271836:L402F	L	+	1	0	ADAM15	153296343	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.412000	0.59787	2.668000	0.90789	0.643000	0.83706	CTC		0.627	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		T	155029719	C	T	155029719	3	4	215	1	0	0	0	0	1	0	0	0	237	681	24	2	1250	2	ADAM15	1	155029719	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09	9531115	155029719	94220902	3	12298											
SCAMP3	10067	genome.wustl.edu	37	1	155226123	155226123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr1:155226123G>A	ENST00000302631.3	-	9	1092	c.985C>T	c.(985-987)Cga>Tga	p.R329*	FAM189B_ENST00000361361.2_5'Flank|SCAMP3_ENST00000355379.3_Nonsense_Mutation_p.R303*|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	329					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.R329*(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)			GCTGCGGTTCGCACCGCAGGG	0.612																																																1	Substitution - Nonsense(1)	ovary(1)	1											48	58	55					1																	155226123		2203	4300	6503	153492747	SO:0001587	stop_gained	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.985C>T	1.37:g.155226123G>A	ENSP00000307275:p.Arg329*		153492747	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Nonsense_Mutation	SNP	ENST00000302631.3	37	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.532989	0.85812	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	.	.	.	4.98	3.09	0.35607	.	0.067310	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6387	7.8919	0.29682	0.0852:0.0:0.7536:0.1612	.	.	.	.	X	329;303	.	ENSP00000307275:R329X	R	-	1	2	SCAMP3	153492747	1.000000	0.71417	0.994000	0.49952	0.164000	0.22412	7.594000	0.82698	0.801000	0.34066	0.655000	0.94253	CGA		0.612	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		A	155226123	G	A	155226123	4	1	215	1	0	0	0	0	0	1	0	0	13875	1095	38	1	62	1	SCAMP3	1	155226123	Nonsense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	196404	155226123	94024498	4	12299											
FCRL4	83417	genome.wustl.edu	37	1	157557705	157557705	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr1:157557705C>A	ENST00000271532.1	-	4	647	c.512G>T	c.(511-513)gGa>gTa	p.G171V	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	171	Ig-like C2-type 2.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G171V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ATTCTCGTCTCCATATCCAAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											54	52	52					1																	157557705		2203	4300	6503	155824329	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.512G>T	1.37:g.157557705C>A	ENSP00000271532:p.Gly171Val		155824329	Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	1.918	-0.449160	0.04572	.	.	ENSG00000163518	ENST00000271532	T	0.11821	2.74	3.97	-1.04	0.10068	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.246370	0.06103	N	0.665736	T	0.01627	0.0052	N	0.13299	0.325	0.09310	N	0.999999	B	0.12630	0.006	B	0.14023	0.01	T	0.46624	-0.9178	10	0.23302	T	0.38	.	0.2053	0.00149	0.2545:0.2861:0.1562:0.3032	.	171	Q96PJ5	FCRL4_HUMAN	V	171	ENSP00000271532:G171V	ENSP00000271532:G171V	G	-	2	0	FCRL4	155824329	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.852000	0.04308	-0.328000	0.08539	0.467000	0.42956	GGA		0.318	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		A	157557705	C	A	157557705	3	1	215	1	0	0	0	0	1	0	0	0	5797	855	30	3	1071	3	FCRL4	1	157557705	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09	2331582	157557705	91692916	5	12300											
UCK2	7371	genome.wustl.edu	37	1	165872505	165872505	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr1:165872505T>C	ENST00000367879.4	+	5	889	c.586T>C	c.(586-588)Ttc>Ctc	p.F196L	UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.F46L|UCK2_ENST00000470820.1_Missense_Mutation_p.F46L|RP11-525G13.2_ENST00000455257.2_RNA	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	196					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)	p.F196L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTTGAGGAATTCTGCTTGCC	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											227	187	201					1																	165872505		2203	4300	6503	164139129	SO:0001583	missense	7371			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"uridine monophosphate kinase"	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.586T>C	1.37:g.165872505T>C	ENSP00000356853:p.Phe196Leu		164139129	Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	T	31	5.088530	0.94100	.	.	ENSG00000143179	ENST00000367879	.	.	.	4.83	4.83	0.62350	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	H	0.97465	4.01	0.58432	D	0.999999	P;D	0.56521	0.759;0.976	P;P	0.57283	0.453;0.817	D	0.87165	0.2217	8	0.87932	D	0	-29.4412	12.4166	0.55496	0.0:0.0:0.0:1.0	.	46;196	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	L	196	.	ENSP00000356853:F196L	F	+	1	0	UCK2	164139129	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.614000	0.82996	2.032000	0.59987	0.533000	0.62120	TTC		0.418	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		C	165872505	T	C	165872505	3	2	215	1	0	0	0	0	1	0	0	0	16924	1493	52	4	604	4	UCK2	1	165872505	Missense_Mutation	SNP	T	TCGA-24-1417-01A-01W-0549-09	8314800	165872505	83378116	6	12301											
POGK	57645	genome.wustl.edu	37	1	166819441	166819441	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr1:166819441C>T	ENST00000367875.1	+	5	1985	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	POGK_ENST00000537173.1_Missense_Mutation_p.P424L|POGK_ENST00000367876.4_Missense_Mutation_p.P542L|POGK_ENST00000536514.1_Missense_Mutation_p.P457L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	542	DDE.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P542L(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						gctaagaagccacccctgggc	0.567																																					GBM(76;192 1530 30153 48742)											1	Substitution - Missense(1)	ovary(1)	1											28	23	25					1																	166819441		2164	4237	6401	165086065	SO:0001583	missense	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.1625C>T	1.37:g.166819441C>T	ENSP00000356849:p.Pro542Leu		165086065	Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328464	0.81690	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.49	5.49	0.81192	.	0.000000	0.46442	D	0.000283	T	0.33673	0.0871	N	0.21282	0.65	0.38079	D	0.936622	P;P;D	0.63046	0.928;0.587;0.992	P;P;D	0.63957	0.671;0.504;0.92	T	0.03423	-1.1038	8	.	.	.	-18.1759	16.9205	0.86163	0.0:1.0:0.0:0.0	.	424;457;542	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	L	424;457;542;542	ENSP00000442763:P424L;ENSP00000441187:P457L;ENSP00000356850:P542L;ENSP00000356849:P542L	.	P	+	2	0	POGK	165086065	0.977000	0.34250	0.983000	0.44433	0.935000	0.57460	2.711000	0.47177	2.857000	0.98124	0.650000	0.86243	CCA		0.567	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		T	166819441	C	T	166819441	3	4	215	1	0	0	0	0	1	0	0	0	12185	594	21	2	1639	2	POGK	1	166819441	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09	946936	166819441	82431180	7	12302											
NRXN1	9378	genome.wustl.edu	37	2	50318609	50318609	+	Silent	SNP	C	C	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr2:50318609C>T	ENST00000406316.2	-	19	5046	c.3570G>A	c.(3568-3570)aaG>aaA	p.K1190K	NRXN1_ENST00000401710.1_Silent_p.K208K|NRXN1_ENST00000342183.5_Silent_p.K155K|NRXN1_ENST00000401669.2_Silent_p.K1190K|NRXN1_ENST00000406859.3_Silent_p.K1190K|NRXN1_ENST00000402717.3_Silent_p.K1182K|NRXN1_ENST00000405472.3_Silent_p.K1182K|NRXN1_ENST00000404971.1_Silent_p.K1230K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1190	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.K155K(1)|p.K1190K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAACATTAAACTTAACTCCAA	0.378																																																2	Substitution - coding silent(2)	ovary(2)	2											135	122	127					2																	50318609		2203	4300	6503	50172113	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3570G>A	2.37:g.50318609C>T			50172113	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																				0.378	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50318609	C	T	50318609	2	4	215	1	0	0	0	0	0	0	0	1	10665	564	20	2		2	NRXN1	2	50318609	Silent	SNP	C	TCGA-24-1417-01A-01W-0549-09		50318609	192880764	8	12303											
REL	5966	genome.wustl.edu	37	2	61118919	61118919	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr2:61118919G>C	ENST00000295025.8	+	2	432	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	REL_ENST00000394479.3_Missense_Mutation_p.E38Q	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	38	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E38Q(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CATTCCAGGGGAGCACAGCAC	0.443			A		Hodgkin Lymphoma																																		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	1	Substitution - Missense(1)	ovary(1)	2											193	173	180					2																	61118919		2203	4300	6503	60972423	SO:0001583	missense	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.112G>C	2.37:g.61118919G>C	ENSP00000295025:p.Glu38Gln		60972423	Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320010	0.95682	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.47177	0.85;0.85	5.47	5.47	0.80525	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69394	-0.5157	10	0.42905	T	0.14	-10.8153	19.3204	0.94236	0.0:0.0:1.0:0.0	.	38;38	Q17RU2;Q04864	.;REL_HUMAN	Q	38	ENSP00000295025:E38Q;ENSP00000377989:E38Q	ENSP00000295025:E38Q	E	+	1	0	REL	60972423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.863000	0.99569	2.554000	0.86153	0.650000	0.86243	GAG		0.443	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		C	61118919	G	C	61118919	3	2	215	1	0	0	0	0	1	0	0	0	13218	1175	41	3	118	3	REL	2	61118919	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	10800310	61118919	182080454	9	12304											
TRIM43	129868	genome.wustl.edu	37	2	96262063	96262063	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr2:96262063G>C	ENST00000272395.2	+	4	757	c.621G>C	c.(619-621)gaG>gaC	p.E207D		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	207						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E207D(1)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						AATACCAAGAGATTTTTCAGC	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											6	5	6					2																	96262063		1852	3962	5814	95625790	SO:0001583	missense	129868			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.621G>C	2.37:g.96262063G>C	ENSP00000272395:p.Glu207Asp		95625790	Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.034	-1.316465	0.01331	.	.	ENSG00000144015	ENST00000272395	T	0.09445	2.98	1.33	-0.471	0.12119	.	.	.	.	.	T	0.06188	0.0160	L	0.31371	0.925	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45101	-0.9284	9	0.15499	T	0.54	3.2105	4.0346	0.09724	0.3746:0.0:0.6254:0.0	.	207	Q96BQ3	TRI43_HUMAN	D	207	ENSP00000272395:E207D	ENSP00000272395:E207D	E	+	3	2	TRIM43	95625790	0.016000	0.18221	0.004000	0.12327	0.154000	0.21943	-0.802000	0.04545	-0.132000	0.11557	0.375000	0.23000	GAG		0.388	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		C	96262063	G	C	96262063	3	2	215	1	0	0	0	0	1	0	0	0	16518	933	33	3	631	3	TRIM43	2	96262063	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	35143144	96262063	146937310	10	12305											
SCN2A	6326	genome.wustl.edu	37	2	166170591	166170591	+	Silent	SNP	G	G	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr2:166170591G>A	ENST00000375437.2	+	10	1646	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	SCN2A_ENST00000375427.2_Silent_p.Q452Q|SCN2A_ENST00000283256.6_Silent_p.Q452Q|SCN2A_ENST00000357398.3_Silent_p.Q452Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	452					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Q452Q(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCTCGAACAGTTGAAAAAGC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	2											62	59	60					2																	166170591		2203	4300	6503	165878837	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1356G>A	2.37:g.166170591G>A			165878837	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.428	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		A	166170591	G	A	166170591	2	1	215	1	0	0	0	0	0	0	0	1	13919	1020	36	2		2	SCN2A	2	166170591	Silent	SNP	G	TCGA-24-1417-01A-01W-0549-09	69908528	166170591	77028782	11	12306											
XIRP2	129446	genome.wustl.edu	37	2	168104778	168104778	+	Silent	SNP	A	A	G			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr2:168104778A>G	ENST00000409195.1	+	9	6965	c.6876A>G	c.(6874-6876)ccA>ccG	p.P2292P	XIRP2_ENST00000409273.1_Silent_p.P2070P|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.P2292P|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2117					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.P2292P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCACCTCCATCTCCACCTC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	2											74	72	73					2																	168104778		1906	4120	6026	167813024	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6876A>G	2.37:g.168104778A>G			167813024	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168104778	A	G	168104778	2	3	215	1	0	0	0	0	0	0	0	1	17430	204	8	4		4	XIRP2	2	168104778	Silent	SNP	A	TCGA-24-1417-01A-01W-0549-09	1934187	168104778	75094595	12	12307											
SLC11A1	6556	genome.wustl.edu	37	2	219259460	219259460	+	Silent	SNP	C	C	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr2:219259460C>A	ENST00000233202.6	+	14	1834	c.1494C>A	c.(1492-1494)ggC>ggA	p.G498G	SLC11A1_ENST00000539932.1_Silent_p.G380G	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	498					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.G498G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACTTCGGCCTTGCAGCCT	0.602																																																1	Substitution - coding silent(1)	ovary(1)	2											95	91	92					2																	219259460		2203	4300	6503	218967704	SO:0001819	synonymous_variant	6556			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1494C>A	2.37:g.219259460C>A			218967704	C0H5Y3	Silent	SNP	ENST00000233202.6	37	CCDS2415.1																																																																																				0.602	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		A	219259460	C	A	219259460	2	1	215	1	0	0	0	0	0	0	0	1	14383	726	26	3		3	SLC11A1	2	219259460	Silent	SNP	C	TCGA-24-1417-01A-01W-0549-09	51154682	219259460	23939913	13	12308											
SEC62	7095	genome.wustl.edu	37	3	169693429	169693429	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr3:169693429G>C	ENST00000337002.4	+	2	128	c.70G>C	c.(70-72)Gtg>Ctg	p.V24L	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Missense_Mutation_p.V24L	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	24					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.V24L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						AGAGAAGGCTGTGGCCAAGTA	0.343																																																1	Substitution - Missense(1)	ovary(1)	3											113	106	108					3																	169693429		2203	4300	6503	171176123	SO:0001583	missense	7095			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.70G>C	3.37:g.169693429G>C	ENSP00000337688:p.Val24Leu		171176123	D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451983	0.63290	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	T;T	0.15603	2.41;2.41	6.02	5.14	0.70334	.	0.057343	0.64402	D	0.000001	T	0.21307	0.0513	M	0.73962	2.25	0.58432	D	0.999999	B	0.21452	0.056	B	0.22152	0.038	T	0.02404	-1.1164	10	0.45353	T	0.12	-15.5175	9.8426	0.41008	0.1512:0.0:0.8488:0.0	.	24	Q99442	SEC62_HUMAN	L	24	ENSP00000337688:V24L;ENSP00000420331:V24L	ENSP00000337688:V24L	V	+	1	0	SEC62	171176123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.187000	0.65087	2.865000	0.98341	0.655000	0.94253	GTG		0.343	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			C	169693429	G	C	169693429	3	2	215	1	0	0	0	0	1	0	0	0	14007	1377	48	3	76	3	SEC62	3	169693429	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09		169693429	28329001	14	12309											
THPO	7066	genome.wustl.edu	37	3	184090779	184090779	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr3:184090779A>G	ENST00000204615.7	-	6	798	c.584T>C	c.(583-585)cTc>cCc	p.L195P	THPO_ENST00000421442.2_Intron|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.L191P	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	195					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.L195P(1)		NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGTTTGGGAGCTCGTTCAG	0.572																																																1	Substitution - Missense(1)	ovary(1)	3											82	83	82					3																	184090779		2203	4300	6503	185573473	SO:0001583	missense	7066				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.584T>C	3.37:g.184090779A>G	ENSP00000204615:p.Leu195Pro		185573473	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	CCDS3265.1	.	.	.	.	.	.	.	.	.	.	a	17.36	3.368994	0.61624	.	.	ENSG00000090534	ENST00000204615;ENST00000445696	T;T	0.45276	0.9;0.91	4.1	4.1	0.47936	.	0.181068	0.26855	N	0.022141	T	0.46756	0.1409	L	0.29908	0.895	0.80722	D	1	D;D	0.69078	0.997;0.994	D;P	0.63703	0.917;0.829	T	0.48186	-0.9057	10	0.87932	D	0	-23.5457	9.4116	0.38496	1.0:0.0:0.0:0.0	.	191;195	P40225-2;P40225	.;TPO_HUMAN	P	195;191	ENSP00000204615:L195P;ENSP00000410763:L191P	ENSP00000204615:L195P	L	-	2	0	THPO	185573473	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.715000	0.47210	1.722000	0.51474	0.373000	0.22412	CTC		0.572	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		G	184090779	A	G	184090779	3	3	215	1	0	0	0	0	1	0	0	0	15872	304	11	4	481	4	THPO	3	184090779	Missense_Mutation	SNP	A	TCGA-24-1417-01A-01W-0549-09	14397350	184090779	13931651	15	12310											
ADH1C	126	genome.wustl.edu	37	4	100268979	100268979	+	RNA	SNP	G	G	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr4:100268979G>A	ENST00000510055.1	-	0	217				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AACTCCCATAGCACAGCTGCT	0.413																																																0			4											87	83	84					4																	100268979		2203	4300	6503	100488002			126			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"Alcohol dehydrogenases"	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268979G>A			100488002	Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Silent	SNP	ENST00000510055.1	37																																																																																					0.413	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		A	100268979	G	A	100268979	1	1	215	0	1	0	0	0	0	0	0	0	309	962	34	2		2	ADH1C	4	100268979	RNA	SNP	G	TCGA-24-1417-01A-01W-0549-09		100268979	90885297	16	12311											
ACCN5	51802	genome.wustl.edu	37	4	156775394	156775394	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr4:156775394A>T	ENST00000537611.2	-	3	466	c.420T>A	c.(418-420)caT>caA	p.H140Q		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	140					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.H140Q(1)									TTTCTTGAAGATGGAGGACTT	0.388																																																1	Substitution - Missense(1)	ovary(1)	4											87	88	87					4																	156775394		2203	4300	6503	156994844	SO:0001583	missense	51802			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.420T>A	4.37:g.156775394A>T	ENSP00000442477:p.His140Gln		156994844		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	A	4.666	0.123746	0.08931	.	.	ENSG00000256394	ENST00000537611	T	0.61859	0.07	4.4	1.39	0.22231	.	2.904090	0.00881	N	0.002135	T	0.47930	0.1472	L	0.33485	1.01	0.21527	N	0.999654	B	0.15473	0.013	B	0.20384	0.029	T	0.18304	-1.0341	10	0.21540	T	0.41	-5.0176	7.4451	0.27207	0.6788:0.0:0.3212:0.0	.	140	Q9NY37	ACCN5_HUMAN	Q	140	ENSP00000442477:H140Q	ENSP00000264432:H140Q	H	-	3	2	ACCN5	156994844	1.000000	0.71417	0.895000	0.35142	0.061000	0.15899	1.407000	0.34657	0.151000	0.19162	0.482000	0.46254	CAT		0.388	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			T	156775394	A	T	156775394	3	4	215	1	0	0	0	0	1	0	0	0	132	330	12	5	1129	5	ACCN5	4	156775394	Missense_Mutation	SNP	A	TCGA-24-1417-01A-01W-0549-09	56506415	156775394	34378882	17	12312											
LIX1	167410	genome.wustl.edu	37	5	96432518	96432518	+	Missense_Mutation	SNP	C	C	T	rs570322510		TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr5:96432518C>T	ENST00000274382.4	-	5	852	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	186								p.R186Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TCTTACCTGTCGGGAACACTT	0.408													C|||	1	0.000199681	8e-04	0	5008	,	,		18767	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5											91	89	89					5																	96432518		2203	4300	6503	96458274	SO:0001583	missense	167410				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"chromosome 5 open reading frame 11", "Lix1 homolog (mouse)"	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.557G>A	5.37:g.96432518C>T	ENSP00000274382:p.Arg186Gln		96458274	A8K4R9|Q8N7I2	Missense_Mutation	SNP	ENST00000274382.4	37	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	C	36	5.816624	0.96982	.	.	ENSG00000145721	ENST00000274382	T	0.63417	-0.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80226	0.4584	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.79883	-0.1615	10	0.87932	D	0	-10.7206	20.4745	0.99168	0.0:1.0:0.0:0.0	.	186	Q8N485	LIX1_HUMAN	Q	186	ENSP00000274382:R186Q	ENSP00000274382:R186Q	R	-	2	0	LIX1	96458274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.323000	0.79105	2.941000	0.99782	0.655000	0.94253	CGA		0.408	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		T	96432518	C	T	96432518	3	4	215	1	0	0	0	0	1	0	0	0	8831	884	31	1	299	1	LIX1	5	96432518	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09		96432518	84482742	18	12313											
FNIP1	96459	genome.wustl.edu	37	5	131014826	131014826	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr5:131014826T>G	ENST00000510461.1	-	12	1340	c.1245A>C	c.(1243-1245)gaA>gaC	p.E415D	FNIP1_ENST00000307968.7_Missense_Mutation_p.E387D|FNIP1_ENST00000307954.8_Missense_Mutation_p.E370D|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.E415D	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	415					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E415D(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCCAGACAGGTTCTCCAATTC	0.373																																																1	Substitution - Missense(1)	ovary(1)	5											84	79	81					5																	131014826		2203	4300	6503	131042725	SO:0001583	missense	96459			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1245A>C	5.37:g.131014826T>G	ENSP00000421985:p.Glu415Asp		131042725	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408475	0.83340	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.06	0.304	0.15796	.	.	.	.	.	T	0.51261	0.1664	M	0.79805	2.47	0.50467	D	0.999871	D;D;D;P	0.71674	0.998;0.996;0.998;0.729	D;D;D;P	0.77557	0.99;0.987;0.99;0.537	T	0.50013	-0.8877	9	0.46703	T	0.11	-7.7774	9.423	0.38563	0.0:0.4826:0.0:0.5174	.	415;415;387;415	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	D	387;370;175;415;415	ENSP00000309266:E387D;ENSP00000310453:E370D;ENSP00000421985:E415D;ENSP00000425619:E415D	ENSP00000310453:E370D	E	-	3	2	FNIP1	131042725	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.597000	0.24059	0.195000	0.20347	0.533000	0.62120	GAA		0.373	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		G	131014826	T	G	131014826	3	3	215	1	0	0	0	0	1	0	0	0	5975	1722	60	5	2283	5	FNIP1	5	131014826	Missense_Mutation	SNP	T	TCGA-24-1417-01A-01W-0549-09	34582308	131014826	49900434	19	12314											
RPP40	10799	genome.wustl.edu	37	6	4999008	4999008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr6:4999008C>T	ENST00000380051.2	-	5	545	c.501G>A	c.(499-501)tgG>tgA	p.W167*	RPP40_ENST00000464646.1_Nonsense_Mutation_p.W107*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.W144*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	167					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.W167*(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CTTTGAAAGACCAAGATATTC	0.269																																																1	Substitution - Nonsense(1)	ovary(1)	6											31	33	32					6																	4999008		2183	4283	6466	4944007	SO:0001587	stop_gained	10799			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"ribonuclease P1", "ribonuclease P 40kDa subunit"	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.501G>A	6.37:g.4999008C>T	ENSP00000369391:p.Trp167*		4944007	Q5VX97|Q8WVK8	Nonsense_Mutation	SNP	ENST00000380051.2	37	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321316	0.41096	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	.	.	.	5.61	4.74	0.60224	.	0.230323	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-11.5818	14.9611	0.71158	0.1439:0.8561:0.0:0.0	.	.	.	.	X	167;144;107	.	ENSP00000317998:W144X	W	-	3	0	RPP40	4944007	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	3.960000	0.56752	1.342000	0.45619	-0.188000	0.12872	TGG		0.269	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		T	4999008	C	T	4999008	4	4	215	1	0	0	0	0	0	1	0	0	13617	508	18	2	606	2	RPP40	6	4999008	Nonsense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09		4999008	166116059	20	12315											
HIVEP1	3096	genome.wustl.edu	37	6	12163572	12163572	+	Silent	SNP	A	A	C	rs201995479		TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr6:12163572A>C	ENST00000379388.2	+	9	7367	c.7035A>C	c.(7033-7035)gcA>gcC	p.A2345A	HIVEP1_ENST00000541134.1_Silent_p.A210A	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2345					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A2345A(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCCAGACAGCAGCGGGGATGC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	6											152	159	157					6																	12163572		2020	4183	6203	12271558	SO:0001819	synonymous_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7035A>C	6.37:g.12163572A>C			12271558	B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	CCDS43426.1																																																																																				0.527	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		C	12163572	A	C	12163572	2	2	215	1	0	0	0	0	0	0	0	1	7186	175	7	5		5	HIVEP1	6	12163572	Silent	SNP	A	TCGA-24-1417-01A-01W-0549-09	7164564	12163572	158951495	21	12316											
HIST1H2AG	8969	genome.wustl.edu	37	6	27100858	27100858	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr6:27100858G>T	ENST00000359193.2	+	1	27	c.8G>T	c.(7-9)gGa>gTa	p.G3V	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	3						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.G3V(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCTATGTCTGGACGTGGCAAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	6											42	47	45					6																	27100858		2198	4299	6497	27208837	SO:0001583	missense	8969			L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"Histones / Replication-dependent"	4737	protein-coding gene	gene with protein product		615012	"H2A histone family, member P", "histone 1, H2ag"	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.8G>T	6.37:g.27100858G>T	ENSP00000352119:p.Gly3Val		27208837	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359193.2	37	CCDS4619.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419141	0.25552	.	.	ENSG00000196787	ENST00000359193	D	0.94376	-3.41	4.08	4.08	0.47627	Histone-fold (2);Histone H2A (1);	0.000000	0.39475	N	0.001347	D	0.95156	0.8430	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.60886	0.88	D	0.95647	0.8703	9	0.87932	D	0	.	14.6102	0.68510	0.0:0.0:1.0:0.0	.	3	P0C0S8	H2A1_HUMAN	V	3	ENSP00000352119:G3V	ENSP00000352119:G3V	G	+	2	0	HIST1H2AG	27208837	1.000000	0.71417	0.998000	0.56505	0.162000	0.22319	8.726000	0.91474	2.217000	0.71921	0.655000	0.94253	GGA		0.587	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		T	27100858	G	T	27100858	3	4	215	1	0	0	0	0	1	0	0	0	7133	1174	41	3	10	3	HIST1H2AG	6	27100858	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	14937286	27100858	144014209	22	12317											
OR14J1	442191	genome.wustl.edu	37	6	29275407	29275407	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr6:29275407G>A	ENST00000377160.2	+	1	1005	c.941G>A	c.(940-942)tGc>tAc	p.C314Y		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C314Y(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AGAAAaatgtgcttaaaagcc	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											58	65	63					6																	29275407		1511	2709	4220	29383386	SO:0001583	missense	442191				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"GPCR / Class A : Olfactory receptors"	13971	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily U, member 1"	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.941G>A	6.37:g.29275407G>A	ENSP00000366365:p.Cys314Tyr		29383386	A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.302252	0.01353	.	.	ENSG00000204695	ENST00000377160	T	0.03920	3.76	4.33	-3.74	0.04385	.	1.385010	0.05430	N	0.545805	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43702	-0.9375	10	0.02654	T	1	.	3.796	0.08740	0.3515:0.0:0.2561:0.3924	.	314	Q9UGF5	O14J1_HUMAN	Y	314	ENSP00000366365:C314Y	ENSP00000366365:C314Y	C	+	2	0	OR14J1	29383386	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-1.495000	0.02294	-0.333000	0.08476	-0.484000	0.04775	TGC		0.383	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			A	29275407	G	A	29275407	3	1	215	1	0	0	0	0	1	0	0	0	10948	1319	46	2	943	2	OR14J1	6	29275407	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	2174549	29275407	141839660	23	12318											
ICK	22858	genome.wustl.edu	37	6	52878517	52878517	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr6:52878517C>A	ENST00000350082.5	-	9	1441	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	ICK_ENST00000356971.3_Missense_Mutation_p.Q365H	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	365					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.Q365H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCTTGTCCTCCTGGAGATGGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	6											187	172	177					6																	52878517		2203	4300	6503	52986476	SO:0001583	missense	22858			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1095G>T	6.37:g.52878517C>A	ENSP00000263043:p.Gln365His		52986476	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314207	0.40996	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.73258	-0.73;-0.73	5.85	-3.55	0.04639	.	0.448030	0.24899	N	0.034709	T	0.33059	0.0850	L	0.47716	1.5	0.21064	N	0.999794	B	0.02656	0.0	B	0.06405	0.002	T	0.23226	-1.0194	10	0.48119	T	0.1	-26.3486	3.4441	0.07474	0.1051:0.3339:0.1031:0.4579	.	365	Q9UPZ9	ICK_HUMAN	H	365	ENSP00000263043:Q365H;ENSP00000349458:Q365H	ENSP00000263043:Q365H	Q	-	3	2	ICK	52986476	0.000000	0.05858	0.346000	0.25655	0.864000	0.49448	-1.349000	0.02627	-0.504000	0.06577	0.655000	0.94253	CAG		0.542	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		A	52878517	C	A	52878517	3	1	215	1	0	0	0	0	1	0	0	0	7484	680	24	3	827	3	ICK	6	52878517	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09	23603110	52878517	118236550	24	12319											
ARMC2	84071	genome.wustl.edu	37	6	109197476	109197476	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr6:109197476T>A	ENST00000392644.4	+	5	762	c.594T>A	c.(592-594)gaT>gaA	p.D198E	ARMC2_ENST00000368972.3_Missense_Mutation_p.D33E	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	198								p.D191E(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAACTGATGATGGAGGCTTCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											89	92	91					6																	109197476		2203	4300	6503	109304169	SO:0001583	missense	84071			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.594T>A	6.37:g.109197476T>A	ENSP00000376417:p.Asp198Glu		109304169	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	CCDS5069.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.34|12.34	1.909212|1.909212	0.33721|0.33721	.|.	.|.	ENSG00000118690|ENSG00000118690	ENST00000368972;ENST00000392644;ENST00000237512|ENST00000414610	T;T;T|.	0.51574|.	0.7;0.7;0.7|.	5.0|5.0	-0.279|-0.279	0.12890|0.12890	.|.	0.331224|.	0.28209|.	N|.	0.016196|.	T|T	0.25158|0.25158	0.0611|0.0611	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.08055|.	0.003|.	T|T	0.32745|0.32745	-0.9895|-0.9895	10|5	0.14252|.	T|.	0.57|.	.|.	4.4757|4.4757	0.11739|0.11739	0.1492:0.362:0.0:0.4888|0.1492:0.362:0.0:0.4888	.|.	198|.	Q8NEN0|.	ARMC2_HUMAN|.	E|K	33;198;198|50	ENSP00000357968:D33E;ENSP00000376417:D198E;ENSP00000237512:D198E|.	ENSP00000237512:D198E|.	D|M	+|+	3|2	2|0	ARMC2|ARMC2	109304169|109304169	0.144000|0.144000	0.22641|0.22641	0.375000|0.375000	0.26029|0.26029	0.809000|0.809000	0.45718|0.45718	-0.355000|-0.355000	0.07671|0.07671	-0.194000|-0.194000	0.10399|0.10399	0.254000|0.254000	0.18369|0.18369	GAT|ATG		0.348	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		A	109197476	T	A	109197476	3	1	215	1	0	0	0	0	1	0	0	0	951	1461	51	5	608	5	ARMC2	6	109197476	Missense_Mutation	SNP	T	TCGA-24-1417-01A-01W-0549-09	56318959	109197476	61917591	25	12320											
BMPER	168667	genome.wustl.edu	37	7	34192867	34192867	+	Silent	SNP	C	C	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr7:34192867C>A	ENST00000297161.2	+	16	2414	c.2040C>A	c.(2038-2040)gtC>gtA	p.V680V	BMPER_ENST00000426693.1_Silent_p.V680V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	680	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.V680V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCAAGCCAGTCCTTTGTCCCC	0.498																																																1	Substitution - coding silent(1)	ovary(1)	7											136	107	117					7																	34192867		2203	4300	6503	34159392	SO:0001819	synonymous_variant	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.2040C>A	7.37:g.34192867C>A			34159392	A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	CCDS5442.1																																																																																				0.498	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		A	34192867	C	A	34192867	2	1	215	1	0	0	0	0	0	0	0	1	1468	842	30	3		3	BMPER	7	34192867	Silent	SNP	C	TCGA-24-1417-01A-01W-0549-09		34192867	124945796	26	12321											
SLC26A3	1811	genome.wustl.edu	37	7	107416979	107416979	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr7:107416979G>T	ENST00000340010.5	-	15	1779	c.1595C>A	c.(1594-1596)cCa>cAa	p.P532Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.P497Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	532	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.P532Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CACTCCTTCTGGCTCATACAT	0.378																																																1	Substitution - Missense(1)	ovary(1)	7											114	107	110					7																	107416979		2203	4300	6503	107204215	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1595C>A	7.37:g.107416979G>T	ENSP00000345873:p.Pro532Gln		107204215		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	8.077	0.771495	0.16051	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.88124	-2.34;-2.34	5.82	4.01	0.46588	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.151495	0.64402	D	0.000011	D	0.92306	0.7559	M	0.79123	2.44	0.49582	D	0.999804	D;P	0.63046	0.992;0.787	D;P	0.63033	0.91;0.626	D	0.90865	0.4741	10	0.41790	T	0.15	.	15.582	0.76452	0.1252:0.0:0.8748:0.0	.	497;532	G5E9U3;P40879	.;S26A3_HUMAN	Q	497;532	ENSP00000415817:P497Q;ENSP00000345873:P532Q	ENSP00000345873:P532Q	P	-	2	0	SLC26A3	107204215	1.000000	0.71417	0.296000	0.24974	0.011000	0.07611	5.324000	0.65863	0.398000	0.25338	-1.094000	0.02160	CCA		0.378	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		T	107416979	G	T	107416979	3	4	215	1	0	0	0	0	1	0	0	0	14521	1348	47	3	727	3	SLC26A3	7	107416979	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	73224112	107416979	51721684	27	12322											
ZNF425	155054	genome.wustl.edu	37	7	148802019	148802019	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr7:148802019C>T	ENST00000378061.2	-	4	1076	c.944G>A	c.(943-945)tGc>tAc	p.C315Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	315					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C315Y(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGTGAGCTCGCACTGCTGCAC	0.652																																																1	Substitution - Missense(1)	ovary(1)	7											37	35	36					7																	148802019		2203	4300	6503	148432952	SO:0001583	missense	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.944G>A	7.37:g.148802019C>T	ENSP00000367300:p.Cys315Tyr		148432952	B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735070	0.30774	.	.	ENSG00000204947	ENST00000378061	T	0.07327	3.2	3.66	-0.55	0.11825	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.05031	-0.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40572	-0.9556	9	0.56958	D	0.05	.	3.8032	0.08767	0.0:0.305:0.3842:0.3108	.	315	Q6IV72	ZN425_HUMAN	Y	315	ENSP00000367300:C315Y	ENSP00000367300:C315Y	C	-	2	0	ZNF425	148432952	0.000000	0.05858	0.000000	0.03702	0.629000	0.37895	-6.796000	0.00053	-0.003000	0.14444	0.655000	0.94253	TGC		0.652	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		T	148802019	C	T	148802019	3	4	215	1	0	0	0	0	1	0	0	0	17899	710	25	2	1318	2	ZNF425	7	148802019	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09	41385040	148802019	10336644	28	12323											
RP1L1	94137	genome.wustl.edu	37	8	10464503	10464503	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr8:10464503C>A	ENST00000382483.3	-	4	7328	c.7105G>T	c.(7105-7107)Ggt>Tgt	p.G2369C		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2449					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.G2369C(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGTCATAACCTTCACTGGCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	8																																								10501913	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7105G>T	8.37:g.10464503C>A	ENSP00000371923:p.Gly2369Cys		10501913	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324551	0.24080	.	.	ENSG00000183638	ENST00000382483	T	0.05786	3.39	4.41	2.6	0.31112	.	.	.	.	.	T	0.10252	0.0251	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	P	0.62885	0.908	T	0.21042	-1.0257	9	0.72032	D	0.01	-2.631	6.3015	0.21115	0.0:0.6692:0.1556:0.1753	.	2369	A6NKC6	.	C	2369	ENSP00000371923:G2369C	ENSP00000371923:G2369C	G	-	1	0	RP1L1	10501913	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.216000	0.17585	1.224000	0.43551	0.555000	0.69702	GGT		0.562	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10464503	C	A	10464503	3	1	215	1	0	0	0	0	1	0	0	0	13536	681	24	3	101	3	RP1L1	8	10464503	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09		10464503	135899519	29	12324											
MMP16	4325	genome.wustl.edu	37	8	89209402	89209402	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr8:89209402T>C	ENST00000286614.6	-	2	547	c.266A>G	c.(265-267)gAc>gGc	p.D89G	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	89					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D89G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGTGTTTCTGTCCACTTTTCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	8											111	85	94					8																	89209402		2203	4300	6503	89278518	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.266A>G	8.37:g.89209402T>C	ENSP00000286614:p.Asp89Gly		89278518	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836449	0.91117	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.43294	0.95;0.95	6.07	6.07	0.98685	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77644	0.4161	H	0.97291	3.975	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.79108	0.955;0.992	D	0.85884	0.1424	10	0.87932	D	0	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	89;89	P51512-2;P51512	.;MMP16_HUMAN	G	89;106	ENSP00000286614:D89G;ENSP00000429147:D106G	ENSP00000286614:D89G	D	-	2	0	MMP16	89278518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.330000	0.79161	0.477000	0.44152	GAC		0.463	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		C	89209402	T	C	89209402	3	2	215	1	0	0	0	0	1	0	0	0	9655	1667	58	4	1749	4	MMP16	8	89209402	Missense_Mutation	SNP	T	TCGA-24-1417-01A-01W-0549-09	78744899	89209402	57154620	30	12325											
ASAP1	50807	genome.wustl.edu	37	8	131181276	131181276	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr8:131181276T>A	ENST00000518721.1	-	10	1011	c.784A>T	c.(784-786)Aaa>Taa	p.K262*	ASAP1_ENST00000357668.1_Nonsense_Mutation_p.K262*	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	262					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.K262*(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ATGTACTGTTTCAACTTATCA	0.274																																																1	Substitution - Nonsense(1)	ovary(1)	8											65	70	68					8																	131181276		2201	4293	6494	131250458	SO:0001587	stop_gained	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.784A>T	8.37:g.131181276T>A	ENSP00000429900:p.Lys262*		131250458	B2RNV3	Nonsense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	40|40	8.076227|8.076227	0.98640|0.98640	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.37625|.	0.1010|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36065|.	-0.9763|.	3|.	.|0.02654	.|T	.|1	.|.	15.0013|15.0013	0.71473|0.71473	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	V|X	79|262;262;262;232	.|.	.|ENSP00000344591:K262X	E|K	-|-	2|1	0|0	ASAP1|ASAP1	131250458|131250458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.342000|7.342000	0.79310|0.79310	2.217000|2.217000	0.71921|0.71921	0.482000|0.482000	0.46254|0.46254	GAA|AAA		0.274	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		A	131181276	T	A	131181276	4	1	215	1	0	0	0	0	0	1	0	0	1010	1792	62	5	2689	5	ASAP1	8	131181276	Nonsense_Mutation	SNP	T	TCGA-24-1417-01A-01W-0549-09	41971874	131181276	15182746	31	12326											
ZNF7	7553	genome.wustl.edu	37	8	146062801	146062801	+	Silent	SNP	G	G	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr8:146062801G>A	ENST00000528372.1	+	4	396	c.156G>A	c.(154-156)gaG>gaA	p.E52E	ZNF7_ENST00000325217.5_Silent_p.E63E|ZNF7_ENST00000446747.2_Silent_p.E63E|ZNF7_ENST00000325241.6_Silent_p.E52E|ZNF7_ENST00000529819.1_Silent_p.E51E|ZNF7_ENST00000525266.1_Silent_p.E52E|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000528130.1_Silent_p.E52E|ZNF7_ENST00000544249.1_De_novo_Start_InFrame			P17097	ZNF7_HUMAN	zinc finger protein 7	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|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.E52E(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TCAAGCCTGAGCTGATCTCTC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	8											128	105	113					8																	146062801		2203	4300	6503	146033605	SO:0001819	synonymous_variant	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.156G>A	8.37:g.146062801G>A			146033605	B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	ENST00000528372.1	37	CCDS6435.1																																																																																				0.582	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		A	146062801	G	A	146062801	2	1	215	1	0	0	0	0	0	0	0	1	18102	962	34	2		2	ZNF7	8	146062801	Silent	SNP	G	TCGA-24-1417-01A-01W-0549-09	14881525	146062801	301221	32	12327											
NPR2	4882	genome.wustl.edu	37	9	35805826	35805826	+	Splice_Site	SNP	G	G	C	rs5814		TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr9:35805826G>C	ENST00000342694.2	+	14	2302		c.e14-1			NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCTCTTTTCAGAGAAGCTGTG	0.582																																																1	Unknown(1)	ovary(1)	9											51	54	53					9																	35805826		2203	4300	6503	35795826	SO:0001630	splice_region_variant	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2048-1G>C	9.37:g.35805826G>C			35795826	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Splice_Site	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794667	0.70452	.	.	ENSG00000159899	ENST00000342694	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7127	0.91664	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPR2	35795826	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.824000	0.99380	2.765000	0.95021	0.655000	0.94253	.		0.582	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		Intron	C	35805826	G	C	35805826	5	2	215	1	0	0	0	0	0	0	1	0	10595	956	33	3	2101	3	NPR2	9	35805826	Splice_Site	SNP	G	TCGA-24-1417-01A-01W-0549-09		35805826	105407605	33	12328											
MEIG1	644890	genome.wustl.edu	37	10	15008563	15008563	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr10:15008563T>A	ENST00000378240.1	+	1	126	c.96T>A	c.(94-96)taT>taA	p.Y32*	MEIG1_ENST00000407572.1_Nonsense_Mutation_p.Y32*			Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1	32					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.Y32*(1)		kidney(1)|ovary(1)|prostate(1)	3						AAGCAGGATATCGGGATGAAA	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	10											77	75	76					10																	15008563		2203	4300	6503	15048569	SO:0001587	stop_gained	644890				CCDS31151.1	10p13	2013-08-05	2013-08-05		ENSG00000197889	ENSG00000197889			23429	protein-coding gene	gene with protein product	"spermatogenesis associated 39"	614174	"meiosis expressed gene 1 homolog (mouse)"			23258628	Standard	NM_001080836		Approved	bA2K17.3, SPATA39	uc009xjk.1	Q5JSS6	OTTHUMG00000017717	ENST00000378240.1:c.96T>A	10.37:g.15008563T>A	ENSP00000367486:p.Tyr32*		15048569		Nonsense_Mutation	SNP	ENST00000378240.1	37	CCDS31151.1	.	.	.	.	.	.	.	.	.	.	t	36	5.793302	0.96952	.	.	ENSG00000197889	ENST00000407572;ENST00000378240	.	.	.	5.68	3.31	0.37934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7053	7.5395	0.27729	0.0:0.3622:0.0:0.6378	.	.	.	.	X	32	.	ENSP00000367486:Y32X	Y	+	3	2	MEIG1	15048569	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.648000	0.46647	0.405000	0.25532	0.460000	0.39030	TAT		0.363	MEIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046942.1	XM_927975		A	15008563	T	A	15008563	4	1	215	1	0	0	0	0	0	1	0	0	9466	1442	50	5	98	5	MEIG1	10	15008563	Nonsense_Mutation	SNP	T	TCGA-24-1417-01A-01W-0549-09		15008563	120526184	34	12329											
DDX50	79009	genome.wustl.edu	37	10	70695821	70695821	+	Silent	SNP	C	C	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr10:70695821C>T	ENST00000373585.3	+	11	1688	c.1581C>T	c.(1579-1581)agC>agT	p.S527S	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	527						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.S527R(1)|p.S527S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AATCTAAAAGCATGGATGCCA	0.328																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|prostate(1)	10											69	65	66					10																	70695821		2203	4297	6500	70365827	SO:0001819	synonymous_variant	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1581C>T	10.37:g.70695821C>T			70365827	Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	ENST00000373585.3	37	CCDS7283.1																																																																																				0.328	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		T	70695821	C	T	70695821	2	4	215	1	0	0	0	0	0	0	0	1	4368	709	25	2		2	DDX50	10	70695821	Silent	SNP	C	TCGA-24-1417-01A-01W-0549-09	55687258	70695821	64838926	35	12330											
DNTT	1791	genome.wustl.edu	37	10	98082474	98082474	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr10:98082474C>A	ENST00000371174.2	+	5	841	c.739C>A	c.(739-741)Caa>Aaa	p.Q247K	DNTT_ENST00000419175.1_Missense_Mutation_p.Q247K			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	247	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.Q247K(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGAACGATATCAATCCTTCAA	0.294																																																1	Substitution - Missense(1)	ovary(1)	10											74	79	77					10																	98082474		2203	4299	6502	98072464	SO:0001583	missense	1791			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.739C>A	10.37:g.98082474C>A	ENSP00000360216:p.Gln247Lys		98072464	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	4.048	0.006482	0.07866	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.39997	1.05;1.05	5.09	-2.36	0.06663	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (1);	0.592375	0.19087	N	0.123062	T	0.27866	0.0686	L	0.35341	1.055	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.30794	-0.9966	10	0.09590	T	0.72	-11.7634	16.9085	0.86134	0.3266:0.6734:0.0:0.0	.	247;247	P04053-2;P04053	.;TDT_HUMAN	K	247	ENSP00000401169:Q247K;ENSP00000360216:Q247K	ENSP00000360216:Q247K	Q	+	1	0	DNTT	98072464	0.981000	0.34729	0.735000	0.30896	0.579000	0.36224	0.524000	0.22940	-0.200000	0.10300	-0.457000	0.05445	CAA		0.294	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		A	98082474	C	A	98082474	3	1	215	1	0	0	0	0	1	0	0	0	4680	827	29	3	757	3	DNTT	10	98082474	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09	27386653	98082474	37452273	36	12331											
ABLIM1	3983	genome.wustl.edu	37	10	116417742	116417742	+	Missense_Mutation	SNP	C	C	T	rs146399793	byFrequency	TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr10:116417742C>T	ENST00000277895.5	-	1	315	c.218G>A	c.(217-219)cGt>cAt	p.R73H	snoU13_ENST00000458910.1_RNA|ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000533213.2_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	73					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTTACATACACGCCCACGTGG	0.483													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		20301	0		0	False		,,,				2504	0															0			10						C	,,HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	102	99	100		,,218	-6.7	0	10	dbSNP_134	100	0,8600		0,0,4300	yes	intron,intron,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5	,,29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,,benign	,,73/779	116417742	8,12998	2203	4300	6503	116407732	SO:0001583	missense	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.218G>A	10.37:g.116417742C>T	ENSP00000277895:p.Arg73His		116407732	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	C	11.11	1.542735	0.27563	0.001816	0.0	ENSG00000099204	ENST00000336585;ENST00000369262;ENST00000277895	T	0.27402	1.67	5.77	-6.71	0.01760	.	1.628730	0.03307	N	0.189902	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.14656	T	0.56	.	0.0949	0.00043	0.302:0.2366:0.1969:0.2646	.	73	O14639	ABLM1_HUMAN	H	73	ENSP00000277895:R73H	ENSP00000277895:R73H	R	-	2	0	ABLIM1	116407732	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.633000	0.05483	-0.898000	0.03906	-1.223000	0.01593	CGT		0.483	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			T	116417742	C	T	116417742	3	4	215	1	0	0	0	0	1	0	0	0	94	536	19	1	2294	1	ABLIM1	10	116417742	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09	18335268	116417742	19117005	37	12332											
CARS	833	genome.wustl.edu	37	11	3038504	3038504	+	Silent	SNP	T	T	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr11:3038504T>A	ENST00000397111.5	-	15	1745	c.1500A>T	c.(1498-1500)gcA>gcT	p.A500A	CARS_ENST00000380525.4_Silent_p.A583A|CARS_ENST00000397114.3_Silent_p.A490A|CARS_ENST00000278224.9_Silent_p.A500A|CARS_ENST00000401769.3_Silent_p.A513A			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	500					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.A500A(1)|p.I501delI(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTTGTGAATTGCTGTCTTCT	0.502			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	2	Substitution - coding silent(1)|Deletion - In frame(1)	large_intestine(1)|ovary(1)	11											90	78	82					11																	3038504		2202	4298	6500	2995080	SO:0001819	synonymous_variant	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1500A>T	11.37:g.3038504T>A			2995080	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	ENST00000397111.5	37	CCDS7742.1																																																																																				0.502	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		A	3038504	T	A	3038504	2	1	215	1	0	0	0	0	0	0	0	1	2657	1799	63	5		5	CARS	11	3038504	Silent	SNP	T	TCGA-24-1417-01A-01W-0549-09		3038504	131968012	38	12333											
MADD	8567	genome.wustl.edu	37	11	47310524	47310524	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr11:47310524G>A	ENST00000311027.5	+	16	2824	c.2659G>A	c.(2659-2661)Ggg>Agg	p.G887R	MADD_ENST00000407859.3_Missense_Mutation_p.G844R|MADD_ENST00000349238.3_Missense_Mutation_p.G887R|MADD_ENST00000402799.1_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000395336.3_Missense_Mutation_p.G887R|MADD_ENST00000406482.1_Intron	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.G887R(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCCAGTATTTGGGCTAAATAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											166	172	170					11																	47310524		2201	4298	6499	47267100	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2659G>A	11.37:g.47310524G>A	ENSP00000310933:p.Gly887Arg		47267100		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282368	0.95489	.	.	ENSG00000110514	ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395336	T;T;T;T	0.07688	3.4;3.42;3.17;3.41	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.00651	-1.1626	10	0.59425	D	0.04	-21.928	20.422	0.99049	0.0:0.0:1.0:0.0	.	887;887;844;887	Q8WXG6-7;Q8WXG6-2;Q8WXG6-4;Q8WXG6	.;.;.;MADD_HUMAN	R	887;887;844;887	ENSP00000304505:G887R;ENSP00000310933:G887R;ENSP00000384204:G844R;ENSP00000378745:G887R	ENSP00000310933:G887R	G	+	1	0	MADD	47267100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	GGG		0.473	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			A	47310524	G	A	47310524	3	1	215	1	0	0	0	0	1	0	0	0	9152	1348	47	2	2717	2	MADD	11	47310524	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	44272020	47310524	87695992	39	12334											
AHNAK	79026	genome.wustl.edu	37	11	62295496	62295496	+	Silent	SNP	G	G	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr11:62295496G>C	ENST00000378024.4	-	5	6667	c.6393C>G	c.(6391-6393)gtC>gtG	p.V2131V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2131					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V2131V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCCCCTTTGACTTTGGGGC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	11											185	198	194					11																	62295496		2202	4299	6501	62052072	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6393C>G	11.37:g.62295496G>C			62052072	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62295496	G	C	62295496	2	2	215	1	0	0	0	0	0	0	0	1	414	1277	45	3		3	AHNAK	11	62295496	Silent	SNP	G	TCGA-24-1417-01A-01W-0549-09	14984972	62295496	72711020	40	12335											
KDM2A	22992	genome.wustl.edu	37	11	67017881	67017881	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr11:67017881A>C	ENST00000529006.2	+	17	2826	c.2380A>C	c.(2380-2382)Atc>Ctc	p.I794L	KDM2A_ENST00000530342.1_Missense_Mutation_p.I355L|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_Missense_Mutation_p.I252L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	794					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.I794L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GAAAGCCAAGATCCGGGGATC	0.587																																																1	Substitution - Missense(1)	ovary(1)	11											67	75	72					11																	67017881		2076	4210	6286	66774457	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2380A>C	11.37:g.67017881A>C	ENSP00000432786:p.Ile794Leu		66774457	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	5.803	0.332454	0.10956	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	T;T;T	0.21932	2.34;1.98;2.03	5.91	5.91	0.95273	.	0.396433	0.26919	N	0.021824	T	0.14013	0.0339	N	0.22421	0.69	0.32983	D	0.523866	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17319	-1.0373	9	.	.	.	-16.7533	11.0996	0.48166	0.7992:0.2008:0.0:0.0	.	252;794	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	L	794;355;355;252	ENSP00000432786:I794L;ENSP00000435776:I355L;ENSP00000309302:I252L	.	I	+	1	0	KDM2A	66774457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.769000	0.47654	2.261000	0.74972	0.533000	0.62120	ATC		0.587	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		C	67017881	A	C	67017881	3	2	215	1	0	0	0	0	1	0	0	0	8124	333	12	5	2442	5	KDM2A	11	67017881	Missense_Mutation	SNP	A	TCGA-24-1417-01A-01W-0549-09	4722385	67017881	67988635	41	12336											
ZBTB16	7704	genome.wustl.edu	37	11	113934832	113934832	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr11:113934832C>A	ENST00000335953.4	+	2	1190	c.810C>A	c.(808-810)gaC>gaA	p.D270E	ZBTB16_ENST00000392996.2_Missense_Mutation_p.D270E	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	270					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D270D(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGATGGGGGACAAGGTTGAGG	0.627																																																1	Substitution - coding silent(1)	endometrium(1)	11											42	36	38					11																	113934832		2201	4296	6497	113440042	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.810C>A	11.37:g.113934832C>A	ENSP00000338157:p.Asp270Glu		113440042	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490800	0.26774	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.09350	2.99;2.99	5.63	5.63	0.86233	.	0.193387	0.48767	D	0.000166	T	0.05593	0.0147	N	0.08118	0	0.30828	N	0.737016	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.16247	-1.0409	10	0.25751	T	0.34	-16.4183	9.7324	0.40370	0.0:0.771:0.1527:0.0762	.	270;275	Q05516;Q59H43	ZBT16_HUMAN;.	E	270	ENSP00000338157:D270E;ENSP00000376721:D270E	ENSP00000338157:D270E	D	+	3	2	ZBTB16	113440042	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.405000	0.44548	2.651000	0.90000	0.655000	0.94253	GAC		0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		A	113934832	C	A	113934832	3	1	215	1	0	0	0	0	1	0	0	0	17526	477	17	3	812	3	ZBTB16	11	113934832	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09	46916951	113934832	21071684	42	12337											
ARCN1	372	genome.wustl.edu	37	11	118454563	118454563	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr11:118454563G>C	ENST00000264028.4	+	4	582	c.487G>C	c.(487-489)Gca>Cca	p.A163P	ARCN1_ENST00000359415.4_Missense_Mutation_p.A204P|ARCN1_ENST00000392859.3_Missense_Mutation_p.A75P|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	163					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A163P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCGTCGTAAAGCAAAGGAATT	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											127	112	117					11																	118454563		2200	4295	6495	117959773	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.487G>C	11.37:g.118454563G>C	ENSP00000264028:p.Ala163Pro		117959773	B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422405	0.96111	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000542521;ENST00000264028	T;T;T	0.42131	0.98;0.98;1.03	6.02	6.02	0.97574	.	0.045916	0.85682	D	0.000000	T	0.71508	0.3348	M	0.87180	2.865	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.998	P;D;D	0.75484	0.881;0.986;0.956	T	0.73898	-0.3837	10	0.62326	D	0.03	-16.5754	20.1358	0.98028	0.0:0.0:1.0:0.0	.	75;204;163	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	P	75;204;163;163	ENSP00000376599:A75P;ENSP00000352385:A204P;ENSP00000264028:A163P	ENSP00000264028:A163P	A	+	1	0	ARCN1	117959773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.402000	0.97298	2.865000	0.98341	0.655000	0.94253	GCA		0.453	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			C	118454563	G	C	118454563	3	2	215	1	0	0	0	0	1	0	0	0	842	971	34	3	501	3	ARCN1	11	118454563	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	4519731	118454563	16551953	43	12338											
KBTBD7	84078	genome.wustl.edu	37	13	41766661	41766661	+	Missense_Mutation	SNP	C	C	G	rs267603825		TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr13:41766661C>G	ENST00000379483.3	-	1	2041	c.1733G>C	c.(1732-1734)tGg>tCg	p.W578S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	578								p.W578S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTTCTTTTTCCATTGTGGGGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	13											173	168	170					13																	41766661		2203	4300	6503	40664661	SO:0001583	missense	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1733G>C	13.37:g.41766661C>G	ENSP00000368797:p.Trp578Ser		40664661	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	0.624	-0.820075	0.02755	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.63913	-0.07	5.58	4.73	0.59995	Kelch-type beta propeller (1);	0.356453	0.28730	U	0.014323	T	0.62551	0.2437	L	0.44542	1.39	0.80722	D	1	D	0.60160	0.987	P	0.56278	0.795	T	0.60010	-0.7346	10	0.06099	T	0.92	.	13.537	0.61652	0.1573:0.8426:0.0:0.0	.	578	Q8WVZ9	KBTB7_HUMAN	S	578;480	ENSP00000368797:W578S	ENSP00000368797:W578S	W	-	2	0	KBTBD7	40664661	1.000000	0.71417	0.964000	0.40570	0.172000	0.22775	4.509000	0.60448	1.320000	0.45209	0.557000	0.71058	TGG		0.408	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		G	41766661	C	G	41766661	3	3	215	1	0	0	0	0	1	0	0	0	7998	595	21	3	325	3	KBTBD7	13	41766661	Missense_Mutation	SNP	C	TCGA-24-1417-01A-01W-0549-09		41766661	73403217	44	12339											
NALCN	259232	genome.wustl.edu	37	13	101735219	101735219	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr13:101735219G>T	ENST00000251127.6	-	33	3787	c.3706C>A	c.(3706-3708)Ccg>Acg	p.P1236T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1236					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.P1236T(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGGTCACCGGGTCCTCGACG	0.527																																																1	Substitution - Missense(1)	ovary(1)	13											121	108	112					13																	101735219		2203	4300	6503	100533220	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3706C>A	13.37:g.101735219G>T	ENSP00000251127:p.Pro1236Thr		100533220	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959748	0.34565	.	.	ENSG00000102452	ENST00000251127	D	0.97279	-4.32	5.64	5.64	0.86602	.	0.377447	0.30464	N	0.009563	D	0.93148	0.7818	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.88548	0.3114	10	0.27082	T	0.32	.	19.699	0.96045	0.0:0.0:1.0:0.0	.	1236	Q8IZF0	NALCN_HUMAN	T	1236	ENSP00000251127:P1236T	ENSP00000251127:P1236T	P	-	1	0	NALCN	100533220	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.198000	0.58419	2.645000	0.89757	0.650000	0.86243	CCG		0.527	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		T	101735219	G	T	101735219	3	4	215	1	0	0	0	0	1	0	0	0	10148	1232	43	3	1558	3	NALCN	13	101735219	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09	59968558	101735219	13434659	45	12340											
RPGRIP1	57096	genome.wustl.edu	37	14	21762871	21762871	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr14:21762871A>G	ENST00000400017.2	+	2	121	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.M41V|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.M41V|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.M41V	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	41					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.M41V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTTGAGCAGGATGAACCGGGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	14											104	103	103					14																	21762871		1862	4105	5967	20832711	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.121A>G	14.37:g.21762871A>G	ENSP00000382895:p.Met41Val		20832711	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	7.035	0.561403	0.13498	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	4.52	3.34	0.38264	.	0.398942	0.27764	N	0.017958	T	0.59418	0.2192	L	0.39020	1.185	0.80722	D	1	P	0.34864	0.473	B	0.31442	0.13	T	0.55958	-0.8058	10	0.02654	T	1	-12.5175	7.9577	0.30053	0.7918:0.2082:0.0:0.0	.	41	Q96KN7	RPGR1_HUMAN	V	41	ENSP00000450445:M41V;ENSP00000451219:M41V;ENSP00000382895:M41V;ENSP00000206660:M41V	ENSP00000206660:M41V	M	+	1	0	RPGRIP1	20832711	0.998000	0.40836	0.339000	0.25562	0.790000	0.44656	1.124000	0.31320	0.730000	0.32425	0.459000	0.35465	ATG		0.408	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		G	21762871	A	G	21762871	3	3	215	1	0	0	0	0	1	0	0	0	13552	333	12	4	127	4	RPGRIP1	14	21762871	Missense_Mutation	SNP	A	TCGA-24-1417-01A-01W-0549-09		21762871	85586669	46	12341											
SLC24A4	123041	genome.wustl.edu	37	14	92953021	92953021	+	Silent	SNP	C	C	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr14:92953021C>T	ENST00000532405.1	+	14	1660	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	SLC24A4_ENST00000298877.1_Silent_p.I461I|SLC24A4_ENST00000393265.2_Silent_p.I414I|SLC24A4_ENST00000351924.5_Silent_p.I442I|SLC24A4_ENST00000531433.1_Silent_p.I459I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	478					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.I461I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGACTATTATCGGATACACAC	0.478																																					NSCLC(10;315 435 10383 28450 38798)											1	Substitution - coding silent(1)	ovary(1)	14											143	101	115					14																	92953021		2203	4300	6503	92022774	SO:0001819	synonymous_variant	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1434C>T	14.37:g.92953021C>T			92022774	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	c	2.195	-0.384340	0.04966	.	.	ENSG00000140090	ENST00000525557	.	.	.	4.95	-9.9	0.00461	.	.	.	.	.	T	0.63402	0.2508	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78021	-0.2367	4	.	.	.	.	17.6632	0.88198	0.0:0.5456:0.0:0.4544	.	.	.	.	W	344	.	.	R	+	1	2	SLC24A4	92022774	0.025000	0.19082	0.003000	0.11579	0.420000	0.31355	-0.873000	0.04214	-3.521000	0.00148	-3.264000	0.00049	CGG		0.478	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		T	92953021	C	T	92953021	2	4	215	1	0	0	0	0	0	0	0	1	14471	874	31	1		1	SLC24A4	14	92953021	Silent	SNP	C	TCGA-24-1417-01A-01W-0549-09	71190150	92953021	14396519	47	12342											
VPS33B	26276	genome.wustl.edu	37	15	91548135	91548135	+	Silent	SNP	G	G	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr15:91548135G>C	ENST00000333371.3	-	16	1550	c.1197C>G	c.(1195-1197)ctC>ctG	p.L399L	VPS33B_ENST00000535906.1_Silent_p.L372L|VPS33B_ENST00000535843.1_Silent_p.L308L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	399					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)		p.L399L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					AAAGGCACATGAGGCGCAGGC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	15											111	98	102					15																	91548135		2198	4298	6496	89349139	SO:0001819	synonymous_variant	26276			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1197C>G	15.37:g.91548135G>C			89349139	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Silent	SNP	ENST00000333371.3	37	CCDS10369.1																																																																																				0.443	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		C	91548135	G	C	91548135	2	2	215	1	0	0	0	0	0	0	0	1	17202	1277	45	3		3	VPS33B	15	91548135	Silent	SNP	G	TCGA-24-1417-01A-01W-0549-09		91548135	10983257	48	12343											
IL21R	50615	genome.wustl.edu	37	16	27456571	27456571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr16:27456571G>A	ENST00000337929.3	+	7	1232	c.759G>A	c.(757-759)tgG>tgA	p.W253*	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Nonsense_Mutation_p.W253*|IL21R_ENST00000564089.1_Nonsense_Mutation_p.W253*|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Nonsense_Mutation_p.W253*	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	253					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.W253*(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGCCTTCTGGAGCCTGAAGA	0.547			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	1	Substitution - Nonsense(1)	ovary(1)	16											101	75	84					16																	27456571		2197	4300	6497	27364072	SO:0001587	stop_gained	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.759G>A	16.37:g.27456571G>A	ENSP00000338010:p.Trp253*		27364072	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Nonsense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316872	0.40996	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	.	.	.	3.29	0.0813	0.14424	.	1.924470	0.02196	N	0.061802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-2.0264	9.1648	0.37046	0.1651:0.0:0.8349:0.0	.	.	.	.	X	253	.	ENSP00000338010:W253X	W	+	3	0	IL21R	27364072	0.889000	0.30405	0.214000	0.23707	0.194000	0.23727	0.474000	0.22148	0.037000	0.15575	0.561000	0.74099	TGG		0.547	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		A	27456571	G	A	27456571	4	1	215	1	0	0	0	0	0	1	0	0	7671	1183	41	2	781	2	IL21R	16	27456571	Nonsense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09		27456571	62898182	49	12344											
KIAA0556	23247	genome.wustl.edu	37	16	27788939	27788939	+	Silent	SNP	G	G	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr16:27788939G>T	ENST00000261588.4	+	26	4579	c.4560G>T	c.(4558-4560)gtG>gtT	p.V1520V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1520						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V1520V(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGCTCCTGGTGGACGACCTGC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	16											98	84	89					16																	27788939		2197	4300	6497	27696440	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4560G>T	16.37:g.27788939G>T			27696440	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.632	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27788939	G	T	27788939	2	4	215	1	0	0	0	0	0	0	0	1	8183	1335	47	3		3	KIAA0556	16	27788939	Silent	SNP	G	TCGA-24-1417-01A-01W-0549-09	332368	27788939	62565814	50	12345											
ITGAD	3681	genome.wustl.edu	37	16	31413472	31413472	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr16:31413472T>C	ENST00000389202.2	+	6	513	c.464T>C	c.(463-465)aTt>aCt	p.I155T	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	155	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.I155T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCTTCCTGATTGACGGCTCT	0.552																																																1	Substitution - Missense(1)	ovary(1)	16											150	129	136					16																	31413472		2197	4300	6497	31320973	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.464T>C	16.37:g.31413472T>C	ENSP00000373854:p.Ile155Thr		31320973	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528361	0.64860	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.30714	1.52	4.84	4.84	0.62591	von Willebrand factor, type A (3);	.	.	.	.	T	0.60235	0.2253	M	0.89287	3.02	0.34520	D	0.708093	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.991;0.991	T	0.76321	-0.3002	9	0.87932	D	0	.	12.4256	0.55544	0.0:0.0:0.0:1.0	.	155;171;155	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	T	171;155	ENSP00000373854:I155T	ENSP00000373854:I155T	I	+	2	0	ITGAD	31320973	1.000000	0.71417	0.906000	0.35671	0.643000	0.38383	4.030000	0.57260	2.034000	0.60081	0.519000	0.50382	ATT		0.552	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		C	31413472	T	C	31413472	3	2	215	1	0	0	0	0	1	0	0	0	7884	1493	52	4	486	4	ITGAD	16	31413472	Missense_Mutation	SNP	T	TCGA-24-1417-01A-01W-0549-09	3624533	31413472	58941281	51	12346											
TRPV3	162514	genome.wustl.edu	37	17	3424276	3424276	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr17:3424276A>C	ENST00000576742.1	-	14	2122	c.1801T>G	c.(1801-1803)Ttt>Gtt	p.F601V	TRPV3_ENST00000301365.4_Missense_Mutation_p.F601V|TRPV3_ENST00000572519.1_Missense_Mutation_p.F601V	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	601					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.F601V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCTACTCCAAATCCAAGCAAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	17											84	78	80					17																	3424276		2201	4300	6501	3371026	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1801T>G	17.37:g.3424276A>C	ENSP00000461518:p.Phe601Val		3371026	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	a	22.1	4.244964	0.79912	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.99167	-5.51	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	D	0.99233	0.9733	M	0.82323	2.585	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.99;0.998;0.993;0.994;0.998;0.996	D	0.99293	1.0899	10	0.87932	D	0	-5.8966	14.3707	0.66838	1.0:0.0:0.0:0.0	.	585;585;601;585;601;601;601	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	V	601;601;585	ENSP00000301365:F601V	ENSP00000301365:F601V	F	-	1	0	TRPV3	3371026	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.972000	0.88022	2.054000	0.61138	0.477000	0.44152	TTT		0.338	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		C	3424276	A	C	3424276	3	2	215	1	0	0	0	0	1	0	0	0	16597	101	4	5	591	5	TRPV3	17	3424276	Missense_Mutation	SNP	A	TCGA-24-1417-01A-01W-0549-09		3424276	77770934	52	12347											
ACTG1	71	genome.wustl.edu	37	17	79478319	79478319	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr17:79478319A>T	ENST00000575842.1	-	3	1123	c.697T>A	c.(697-699)Tcc>Acc	p.S233T	ACTG1_ENST00000573283.1_Missense_Mutation_p.S233T|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.S233T|ACTG1_ENST00000331925.2_Missense_Mutation_p.S233T|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	233					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.S233T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			AGAGAAGAGGAGGATGCGGCG	0.617																																																1	Substitution - Missense(1)	ovary(1)	17											57	62	60					17																	79478319		2201	4296	6497	77092914	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.697T>A	17.37:g.79478319A>T	ENSP00000458162:p.Ser233Thr		77092914	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	a	10.76	1.440769	0.25900	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94497	-3.44	4.56	3.47	0.39725	.	0.155107	0.44097	D	0.000489	D	0.95726	0.8610	L	0.52759	1.655	0.45634	D	0.998562	B	0.34241	0.444	P	0.58210	0.835	D	0.94555	0.7757	10	0.87932	D	0	.	10.4413	0.44466	0.8356:0.1644:0.0:0.0	.	233	P63261	ACTG_HUMAN	T	233;191	ENSP00000331514:S233T	ENSP00000331514:S233T	S	-	1	0	ACTG1	77092914	0.945000	0.32115	0.322000	0.25334	0.662000	0.39071	2.766000	0.47629	0.614000	0.30107	0.452000	0.29995	TCC		0.617	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		T	79478319	A	T	79478319	3	4	215	1	0	0	0	0	1	0	0	0	196	304	11	5	442	5	ACTG1	17	79478319	Missense_Mutation	SNP	A	TCGA-24-1417-01A-01W-0549-09	76054043	79478319	1716891	53	12348											
HGS	9146	genome.wustl.edu	37	17	79653372	79653372	+	Silent	SNP	G	G	A	rs371953529		TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr17:79653372G>A	ENST00000329138.4	+	3	288	c.153G>A	c.(151-153)aaG>aaA	p.K51K	ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000397498.4_5'Flank|ARL16_ENST00000570561.1_5'Flank|ARL16_ENST00000576135.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	51	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.K51K(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCATCAAGAAGAAAGTCAACG	0.468																																																1	Substitution - coding silent(1)	ovary(1)	17						G		0,4404		0,0,2202	131	111	118		153	1.8	1	17		118	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HGS	NM_004712.4		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		51/778	79653372	2,13002	2202	4300	6502	77263777	SO:0001819	synonymous_variant	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.153G>A	17.37:g.79653372G>A			77263777	Q9NR36	Silent	SNP	ENST00000329138.4	37	CCDS11784.1																																																																																				0.468	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		A	79653372	G	A	79653372	2	1	215	1	0	0	0	0	0	0	0	1	7087	933	33	2		2	HGS	17	79653372	Silent	SNP	G	TCGA-24-1417-01A-01W-0549-09	175053	79653372	1541838	54	12349											
SKA1	220134	genome.wustl.edu	37	18	47917616	47917616	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr18:47917616G>A	ENST00000285116.3	+	6	783	c.572G>A	c.(571-573)aGa>aAa	p.R191K	SKA1_ENST00000417656.2_Missense_Mutation_p.R145K|SKA1_ENST00000488454.1_Missense_Mutation_p.R40K|SKA1_ENST00000398452.2_Missense_Mutation_p.R191K	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	191					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.R191K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TCTGTGACCAGAAATCTCTAT	0.299																																																1	Substitution - Missense(1)	ovary(1)	18											61	63	62					18																	47917616		2202	4299	6501	46171614	SO:0001583	missense	220134			BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.572G>A	18.37:g.47917616G>A	ENSP00000285116:p.Arg191Lys		46171614	B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037481	0.75617	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.55234	0.53;0.53;0.53	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	L	0.56396	1.775	0.58432	D	0.999994	D;D	0.67145	0.995;0.996	P;P	0.62885	0.852;0.908	T	0.66240	-0.5973	10	0.42905	T	0.14	-18.8619	14.5384	0.67976	0.0:0.0:0.8526:0.1474	.	145;191	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	K	191;145;191	ENSP00000285116:R191K;ENSP00000397222:R145K;ENSP00000381470:R191K	ENSP00000285116:R191K	R	+	2	0	SKA1	46171614	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.180000	0.89694	1.544000	0.49359	0.655000	0.94253	AGA		0.299	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		A	47917616	G	A	47917616	3	1	215	1	0	0	0	0	1	0	0	0	14355	942	33	2	590	2	SKA1	18	47917616	Missense_Mutation	SNP	G	TCGA-24-1417-01A-01W-0549-09		47917616	30159632	55	12350											
EMR3	84658	genome.wustl.edu	37	19	14757991	14757991	+	Splice_Site	SNP	A	A	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr19:14757991A>C	ENST00000253673.5	-	8	983		c.e8+1		EMR3_ENST00000443157.2_Splice_Site|EMR3_ENST00000599900.1_Splice_Site|EMR3_ENST00000344373.4_Splice_Site	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CCTGTGACCCACCTTCACGTG	0.512																																																1	Unknown(1)	ovary(1)	19											245	212	223					19																	14757991		2203	4300	6503	14618991	SO:0001630	splice_region_variant	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.882+1T>G	19.37:g.14757991A>C			14618991		Splice_Site	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162063	0.38217	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2887	0.37773	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EMR3	14618991	0.992000	0.36948	0.544000	0.28141	0.079000	0.17450	3.320000	0.51991	1.433000	0.47394	0.524000	0.50904	.		0.512	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	Intron	C	14757991	A	C	14757991	5	2	215	1	0	0	0	0	0	0	1	0	5106	173	6	5	1110	5	EMR3	19	14757991	Splice_Site	SNP	A	TCGA-24-1417-01A-01W-0549-09		14757991	44370992	56	12351											
ZNF536	9745	genome.wustl.edu	37	19	30936288	30936288	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr19:30936288T>A	ENST00000355537.3	+	2	1966	c.1819T>A	c.(1819-1821)Ttt>Att	p.F607I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	607					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.F607I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGTCGGGATTTTTTGTCACA	0.547																																																1	Substitution - Missense(1)	ovary(1)	19											95	102	100					19																	30936288		2203	4300	6503	35628128	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1819T>A	19.37:g.30936288T>A	ENSP00000347730:p.Phe607Ile		35628128	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	T	5.129	0.209485	0.09757	.	.	ENSG00000198597	ENST00000355537	T	0.41400	1.0	5.68	5.68	0.88126	.	0.114632	0.64402	D	0.000009	T	0.35248	0.0925	L	0.36672	1.1	0.46167	D	0.998908	B;B	0.30406	0.278;0.278	B;B	0.24974	0.057;0.057	T	0.13872	-1.0493	10	0.49607	T	0.09	-15.212	15.9325	0.79675	0.0:0.0:0.0:1.0	.	607;607	A7E228;O15090	.;ZN536_HUMAN	I	607	ENSP00000347730:F607I	ENSP00000347730:F607I	F	+	1	0	ZNF536	35628128	1.000000	0.71417	0.986000	0.45419	0.528000	0.34623	3.181000	0.50903	2.148000	0.66965	0.533000	0.62120	TTT		0.547	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		A	30936288	T	A	30936288	3	1	215	1	0	0	0	0	1	0	0	0	17974	1841	64	5	1821	5	ZNF536	19	30936288	Missense_Mutation	SNP	T	TCGA-24-1417-01A-01W-0549-09	16178297	30936288	28192695	57	12352											
PLA2G4C	8605	genome.wustl.edu	37	19	48603006	48603006	+	Silent	SNP	G	G	T			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chr19:48603006G>T	ENST00000599921.1	-	5	726	c.369C>A	c.(367-369)acC>acA	p.T123T	PLA2G4C_ENST00000413144.2_Silent_p.T123T|PLA2G4C_ENST00000599111.1_Silent_p.T133T|PLA2G4C_ENST00000354276.3_Silent_p.T123T			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	123	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.T123T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CTGCTTGGATGGTTTTCTGTA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	19											201	181	188					19																	48603006		2203	4300	6503	53294818	SO:0001819	synonymous_variant	8605			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.369C>A	19.37:g.48603006G>T			53294818	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																				0.498	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			T	48603006	G	T	48603006	2	4	215	1	0	0	0	0	0	0	0	1	12003	1335	47	3		3	PLA2G4C	19	48603006	Silent	SNP	G	TCGA-24-1417-01A-01W-0549-09	17666718	48603006	10525977	58	12353											
AFF2	2334	genome.wustl.edu	37	X	148048556	148048556	+	Silent	SNP	T	T	C			TCGA-24-1417-01A-01W-0549-09	TCGA-24-1417-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f6f43d04-a9e3-48c8-a276-3bebcaf416d7	7018df4b-5eed-40c1-8e7c-a31b2b78c91a	g.chrX:148048556T>C	ENST00000370460.2	+	14	3629	c.3150T>C	c.(3148-3150)ctT>ctC	p.L1050L	AFF2_ENST00000342251.3_Silent_p.L1017L|AFF2_ENST00000370457.5_Silent_p.L1015L|AFF2_ENST00000286437.5_Silent_p.L691L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1050					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.L1050L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGCCCCTTCTATCCAGCA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	X											272	216	235					X																	148048556		2203	4300	6503	147856250	SO:0001819	synonymous_variant	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3150T>C	X.37:g.148048556T>C			147856250	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				0.507	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		C	148048556	T	C	148048556	2	2	215	1	0	0	0	0	0	0	0	1	357	1770	62	4		4	AFF2	23	148048556	Silent	SNP	T	TCGA-24-1417-01A-01W-0549-09		148048556	7222004	59	12354											
MECR	51102	genome.wustl.edu	37	1	29528552	29528552	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr1:29528552T>A	ENST00000263702.6	-	6	684	c.659A>T	c.(658-660)gAt>gTt	p.D220V	MECR_ENST00000489248.1_5'Flank|MECR_ENST00000373791.3_Missense_Mutation_p.D144V			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	220					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)	p.D220V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CTTCTGGATATCAGGTCTGGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											155	158	157					1																	29528552		2203	4300	6503	29401139	SO:0001583	missense	51102				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.659A>T	1.37:g.29528552T>A	ENSP00000263702:p.Asp220Val		29401139	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514349	0.64522	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792;ENST00000453185	T;T	0.04234	3.67;3.67	5.75	5.75	0.90469	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.202986	0.49916	D	0.000127	T	0.09730	0.0239	M	0.78049	2.395	0.80722	D	1	P	0.37548	0.599	B	0.36922	0.236	T	0.01363	-1.1374	10	0.54805	T	0.06	-1.115	12.4474	0.55659	0.0:0.0:0.0:1.0	.	220	Q9BV79	MECR_HUMAN	V	144;220;132;59	ENSP00000362896:D144V;ENSP00000263702:D220V	ENSP00000263702:D220V	D	-	2	0	MECR	29401139	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.772000	0.75001	2.185000	0.69588	0.459000	0.35465	GAT		0.512	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		A	29528552	T	A	29528552	3	1	216	1	0	0	0	0	1	0	0	0	9424	1435	50	5	482	5	MECR	1	29528552	Missense_Mutation	SNP	T	TCGA-24-1418-01A-01W-0549-09		29528552	219722069	1	12355											
TXNIP	10628	genome.wustl.edu	37	1	145440070	145440070	+	Silent	SNP	T	T	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr1:145440070T>A	ENST00000369317.4	+	4	838	c.504T>A	c.(502-504)gtT>gtA	p.V168V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	168					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.V168V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAAGAAAGTTTCCTGCATGT	0.403																																																1	Substitution - coding silent(1)	ovary(1)	1											173	195	188					1																	145440070		2203	4300	6503	144151427	SO:0001819	synonymous_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.504T>A	1.37:g.145440070T>A			144151427	B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	CCDS913.1																																																																																				0.403	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		A	145440070	T	A	145440070	2	1	216	1	0	0	0	0	0	0	0	1	16803	1828	64	5		5	TXNIP	1	145440070	Silent	SNP	T	TCGA-24-1418-01A-01W-0549-09	115911518	145440070	103810551	2	12356											
HORMAD1	84072	genome.wustl.edu	37	1	150679068	150679068	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr1:150679068C>G	ENST00000361824.2	-	10	870	c.765G>C	c.(763-765)agG>agC	p.R255S	HORMAD1_ENST00000368993.2_Missense_Mutation_p.R255S|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R175S|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R248S	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	255					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.R255S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CATCTTTGTCCCTCAGGATTT	0.313																																																1	Substitution - Missense(1)	ovary(1)	1											164	158	160					1																	150679068		2203	4300	6503	148945692	SO:0001583	missense	84072			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.765G>C	1.37:g.150679068C>G	ENSP00000355167:p.Arg255Ser		148945692	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	CCDS967.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.812452	0.00600	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987	T;T;T;T	0.42513	0.97;1.5;1.54;1.5	5.72	0.73	0.18271	.	0.450862	0.23114	N	0.051780	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	0.999997	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.42241	-0.9463	10	0.08837	T	0.75	-0.7431	8.891	0.35434	0.0:0.6434:0.0:0.3566	.	175;248;255	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	S	175;255;184;175;248;255;184	ENSP00000357991:R175S;ENSP00000357989:R255S;ENSP00000326489:R248S;ENSP00000355167:R255S	ENSP00000326489:R248S	R	-	3	2	HORMAD1	148945692	0.331000	0.24713	0.273000	0.24645	0.031000	0.12232	0.470000	0.22084	0.090000	0.17273	-1.443000	0.01068	AGG		0.313	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		G	150679068	C	G	150679068	3	3	216	1	0	0	0	0	1	0	0	0	7286	622	22	3	443	3	HORMAD1	1	150679068	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09	5238998	150679068	98571553	3	12357											
FLG	2312	genome.wustl.edu	37	1	152286915	152286915	+	Silent	SNP	C	C	T			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr1:152286915C>T	ENST00000368799.1	-	3	482	c.447G>A	c.(445-447)ggG>ggA	p.G149G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	149					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G149G(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCCTTTTCCCCCCTGTTT	0.348									Ichthyosis																																							1	Substitution - coding silent(1)	ovary(1)	1											159	171	167					1																	152286915		2203	4300	6503	150553539	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.447G>A	1.37:g.152286915C>T			150553539	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.348	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152286915	C	T	152286915	2	4	216	1	0	0	0	0	0	0	0	1	5922	842	30	2		2	FLG	1	152286915	Silent	SNP	C	TCGA-24-1418-01A-01W-0549-09	1607847	152286915	96963706	4	12358											
RGS18	64407	genome.wustl.edu	37	1	192150457	192150457	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr1:192150457G>C	ENST00000367460.3	+	4	500	c.319G>C	c.(319-321)Gaa>Caa	p.E107Q		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	107	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E107Q(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTAAAACTGAATTCAGTGA	0.289																																																1	Substitution - Missense(1)	ovary(1)	1											36	40	39					1																	192150457		2174	4284	6458	190417080	SO:0001583	missense	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.319G>C	1.37:g.192150457G>C	ENSP00000356430:p.Glu107Gln		190417080	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705662	0.89018	.	.	ENSG00000150681	ENST00000367460	T	0.02258	4.37	5.51	5.51	0.81932	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00585	-1.1658	10	0.66056	D	0.02	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	107	Q9NS28	RGS18_HUMAN	Q	107	ENSP00000356430:E107Q	ENSP00000356430:E107Q	E	+	1	0	RGS18	190417080	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	9.447000	0.97595	2.601000	0.87937	0.460000	0.39030	GAA		0.289	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		C	192150457	G	C	192150457	3	2	216	1	0	0	0	0	1	0	0	0	13303	1291	45	3	333	3	RGS18	1	192150457	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09	39863542	192150457	57100164	5	12359											
KCNS3	3790	genome.wustl.edu	37	2	18113665	18113665	+	Missense_Mutation	SNP	G	G	A	rs150320186		TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr2:18113665G>A	ENST00000403915.1	+	3	1841	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.D464N	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	464					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.D464N(3)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGGTGAGCGATCCTGACTC	0.453																																																3	Substitution - Missense(3)	ovary(1)|large_intestine(1)|kidney(1)	2						G	ASN/ASP	0,4406		0,0,2203	123	112	116		1390	5.2	0.4	2	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	no	missense	KCNS3	NM_002252.3	23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	464/492	18113665	2,13004	2203	4300	6503	17977146	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1390G>A	2.37:g.18113665G>A	ENSP00000385968:p.Asp464Asn		17977146	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	4.513	0.095252	0.08681	0.0	2.33E-4	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97138	-4.26;-4.26	6.07	5.19	0.71726	.	0.658090	0.16144	N	0.227590	D	0.93602	0.7957	N	0.22421	0.69	0.43803	D	0.996355	B	0.10296	0.003	B	0.04013	0.001	D	0.89831	0.3996	10	0.38643	T	0.18	.	15.2363	0.73432	0.0669:0.0:0.9331:0.0	.	464	Q9BQ31	KCNS3_HUMAN	N	464	ENSP00000385968:D464N;ENSP00000305824:D464N	ENSP00000305824:D464N	D	+	1	0	KCNS3	17977146	0.870000	0.30015	0.420000	0.26596	0.987000	0.75469	2.980000	0.49321	1.578000	0.49821	0.655000	0.94253	GAT		0.453	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		A	18113665	G	A	18113665	3	1	216	1	0	0	0	0	1	0	0	0	8090	1058	37	1	1392	1	KCNS3	2	18113665	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09		18113665	225085708	6	12360											
CCDC141	285025	genome.wustl.edu	37	2	179720257	179720257	+	Silent	SNP	C	C	T			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr2:179720257C>T	ENST00000420890.2	-	19	2994	c.2877G>A	c.(2875-2877)agG>agA	p.R959R	CCDC141_ENST00000295723.5_Silent_p.R384R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	959								p.R384R(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTCCATTTTCCTTTTCAAAG	0.274																																																1	Substitution - coding silent(1)	ovary(1)	2											41	44	43					2																	179720257		2200	4297	6497	179428502	SO:0001819	synonymous_variant	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2877G>A	2.37:g.179720257C>T			179428502	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37																																																																																					0.274	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		T	179720257	C	T	179720257	2	4	216	1	0	0	0	0	0	0	0	1	2775	854	30	2		2	CCDC141	2	179720257	Silent	SNP	C	TCGA-24-1418-01A-01W-0549-09	161606592	179720257	63479116	7	12361											
TRAK1	22906	genome.wustl.edu	37	3	42235383	42235383	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr3:42235383C>G	ENST00000327628.5	+	9	1368	c.968C>G	c.(967-969)aCa>aGa	p.T323R	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.T265R|TRAK1_ENST00000449246.1_Missense_Mutation_p.T249R|TRAK1_ENST00000341421.3_Missense_Mutation_p.T265R	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	323	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.T265R(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGGCAGCTCACAGCCGAGGTG	0.532																																					GBM(44;195 884 22595 31865 41850)											1	Substitution - Missense(1)	ovary(1)	3											92	93	92					3																	42235383		2203	4300	6503	42210387	SO:0001583	missense	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.968C>G	3.37:g.42235383C>G	ENSP00000328998:p.Thr323Arg		42210387	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725542	0.89298	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.45698	1.435	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.993;0.997	T	0.05818	-1.0862	10	0.49607	T	0.09	.	19.0018	0.92837	0.0:1.0:0.0:0.0	.	249;265;323;265;249;323	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	R	323;323;249;265;265	ENSP00000328998:T323R;ENSP00000410717:T249R;ENSP00000379478:T265R;ENSP00000340702:T265R	ENSP00000328998:T323R	T	+	2	0	TRAK1	42210387	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	7.757000	0.85209	2.732000	0.93576	0.637000	0.83480	ACA		0.532	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		G	42235383	C	G	42235383	3	3	216	1	0	0	0	0	1	0	0	0	16449	478	17	3	1118	3	TRAK1	3	42235383	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09		42235383	155787047	8	12362											
WDR5B	54554	genome.wustl.edu	37	3	122133816	122133816	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr3:122133816T>C	ENST00000330689.4	-	1	1066	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	187								p.Y187C(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GAGGCCATCATAGCTACCTGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											85	85	85					3																	122133816		2203	4300	6503	123616506	SO:0001583	missense	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.560A>G	3.37:g.122133816T>C	ENSP00000330381:p.Tyr187Cys		123616506	B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805846	0.70682	.	.	ENSG00000196981	ENST00000330689	T	0.41758	0.99	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.47446	-0.9117	10	0.41790	T	0.15	.	12.3576	0.55184	0.0:0.0:0.0:1.0	.	187	Q86VZ2	WDR5B_HUMAN	C	187	ENSP00000330381:Y187C	ENSP00000330381:Y187C	Y	-	2	0	WDR5B	123616506	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.679000	0.74513	2.082000	0.62665	0.379000	0.24179	TAT		0.423	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		C	122133816	T	C	122133816	3	2	216	1	0	0	0	0	1	0	0	0	17309	1406	49	4	436	4	WDR5B	3	122133816	Missense_Mutation	SNP	T	TCGA-24-1418-01A-01W-0549-09	79898433	122133816	75888614	9	12363											
DTX3L	151636	genome.wustl.edu	37	3	122287985	122287985	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr3:122287985T>A	ENST00000296161.4	+	3	1238	c.1049T>A	c.(1048-1050)aTt>aAt	p.I350N	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	350					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I350N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CAAGATGACATTTCAGCTGCC	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											85	96	92					3																	122287985		2200	4300	6500	123770675	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1049T>A	3.37:g.122287985T>A	ENSP00000296161:p.Ile350Asn		123770675	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261288	0.80246	.	.	ENSG00000163840	ENST00000296161	T	0.47869	0.83	5.65	5.65	0.86999	.	0.108665	0.41396	D	0.000889	T	0.63850	0.2546	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.66901	-0.5806	10	0.87932	D	0	-12.8112	13.3611	0.60657	0.0:0.0:0.0:1.0	.	350	Q8TDB6	DTX3L_HUMAN	N	350	ENSP00000296161:I350N	ENSP00000296161:I350N	I	+	2	0	DTX3L	123770675	0.999000	0.42202	0.830000	0.32933	0.961000	0.63080	5.331000	0.65905	2.371000	0.80710	0.533000	0.62120	ATT		0.383	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		A	122287985	T	A	122287985	3	1	216	1	0	0	0	0	1	0	0	0	4796	1493	52	5	1059	5	DTX3L	3	122287985	Missense_Mutation	SNP	T	TCGA-24-1418-01A-01W-0549-09	154169	122287985	75734445	10	12364											
CLDN18	51208	genome.wustl.edu	37	3	137742517	137742517	+	Silent	SNP	C	C	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr3:137742517C>A	ENST00000183605.5	+	2	464	c.238C>A	c.(238-240)Cga>Aga	p.R80R	CLDN18_ENST00000343735.4_Silent_p.R80R	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	80					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.R80R(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCAGGCAGTGCGAGCCCTGAT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	3											123	98	106					3																	137742517		2203	4300	6503	139225207	SO:0001819	synonymous_variant	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.238C>A	3.37:g.137742517C>A			139225207	A5PL21|Q96PH4	Silent	SNP	ENST00000183605.5	37	CCDS3095.1																																																																																				0.522	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357199.2	NM_001002026		A	137742517	C	A	137742517	2	1	216	1	0	0	0	0	0	0	0	1	3479	760	27	3		3	CLDN18	3	137742517	Silent	SNP	C	TCGA-24-1418-01A-01W-0549-09	15454532	137742517	60279913	11	12365											
KIT	3815	genome.wustl.edu	37	4	55602954	55602954	+	Silent	SNP	G	G	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr4:55602954G>A	ENST00000288135.5	+	19	2761	c.2664G>A	c.(2662-2664)cgG>cgA	p.R888R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	888	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R888R(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGGCTTCCGGATGCTCAGCC	0.433		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	1	Substitution - coding silent(1)	ovary(1)	4											84	81	82					4																	55602954		2203	4300	6503	55297711	SO:0001819	synonymous_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2664G>A	4.37:g.55602954G>A			55297711	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	CCDS3496.1																																																																																				0.433	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55602954	G	A	55602954	2	1	216	1	0	0	0	0	0	0	0	1	8329	1161	41	2		2	KIT	4	55602954	Silent	SNP	G	TCGA-24-1418-01A-01W-0549-09		55602954	135551322	12	12366											
TMEM174	134288	genome.wustl.edu	37	5	72469177	72469177	+	Missense_Mutation	SNP	C	C	A	rs145426839		TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr5:72469177C>A	ENST00000296776.5	+	1	156	c.107C>A	c.(106-108)gCg>gAg	p.A36E	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	36						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A36E(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GATGACAAGGCGGGGGCCACC	0.562																																																1	Substitution - Missense(1)	ovary(1)	5											159	149	153					5																	72469177		2203	4300	6503	72504933	SO:0001583	missense	134288			BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.107C>A	5.37:g.72469177C>A	ENSP00000296776:p.Ala36Glu		72504933	B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981773	0.93044	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.91	5.91	0.95273	.	0.110266	0.64402	D	0.000008	T	0.67144	0.2862	N	0.24115	0.695	0.53688	D	0.999978	D	0.89917	1.0	D	0.77557	0.99	T	0.70019	-0.4987	9	0.87932	D	0	-3.204	20.3053	0.98627	0.0:1.0:0.0:0.0	.	36	Q8WUU8	TM174_HUMAN	E	36	.	ENSP00000296776:A36E	A	+	2	0	TMEM174	72504933	1.000000	0.71417	0.973000	0.42090	0.885000	0.51271	6.487000	0.73633	2.808000	0.96608	0.655000	0.94253	GCG		0.562	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		A	72469177	C	A	72469177	3	1	216	1	0	0	0	0	1	0	0	0	16090	768	27	3	109	3	TMEM174	5	72469177	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09		72469177	108446083	13	12367											
PCDHA3	56145	genome.wustl.edu	37	5	140182138	140182138	+	Silent	SNP	G	G	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr5:140182138G>A	ENST00000522353.2	+	1	1356	c.1356G>A	c.(1354-1356)gcG>gcA	p.A452A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A452A|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A452A(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAATGCGCCGGCATTCT	0.672																																																1	Substitution - coding silent(1)	ovary(1)	5											98	98	98					5																	140182138		2203	4300	6503	140162322	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1356G>A	5.37:g.140182138G>A			140162322	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																				0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		A	140182138	G	A	140182138	2	1	216	1	0	0	0	0	0	0	0	1	11525	1074	38	1		1	PCDHA3	5	140182138	Silent	SNP	G	TCGA-24-1418-01A-01W-0549-09	67712961	140182138	40733122	14	12368											
SH3PXD2B	285590	genome.wustl.edu	37	5	171777565	171777565	+	Missense_Mutation	SNP	C	C	A	rs201224113		TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr5:171777565C>A	ENST00000311601.5	-	10	984	c.814G>T	c.(814-816)Gcc>Tcc	p.A272S	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.A272S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	272	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.A272S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGTAGGAGGCGGGGGCCCAG	0.627																																																1	Substitution - Missense(1)	ovary(1)	5											18	20	19					5																	171777565		2203	4299	6502	171710170	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.814G>T	5.37:g.171777565C>A	ENSP00000309714:p.Ala272Ser		171710170	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792881	0.50102	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.40476	1.03;1.03	4.96	4.96	0.65561	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.28740	0.885	0.80722	D	1	D	0.55800	0.973	P	0.60068	0.868	T	0.40590	-0.9555	10	0.35671	T	0.21	-18.591	15.7132	0.77646	0.0:1.0:0.0:0.0	.	272	A1X283	SPD2B_HUMAN	S	272	ENSP00000430890:A272S;ENSP00000309714:A272S	ENSP00000309714:A272S	A	-	1	0	SH3PXD2B	171710170	1.000000	0.71417	0.995000	0.50966	0.859000	0.49053	7.454000	0.80714	2.264000	0.75181	0.561000	0.74099	GCC		0.627	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		A	171777565	C	A	171777565	3	1	216	1	0	0	0	0	1	0	0	0	14260	768	27	3	1937	3	SH3PXD2B	5	171777565	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09	31595427	171777565	9137695	15	12369											
BOD1	91272	genome.wustl.edu	37	5	173036352	173036352	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr5:173036352C>T	ENST00000311086.4	-	3	671	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	BOD1_ENST00000480951.1_Intron|BOD1_ENST00000285908.5_Intron|BOD1_ENST00000471339.1_5'Flank	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	150					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)		p.E150K(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						ATTGCTCGTTCTATTTGTGGC	0.527																																																1	Substitution - Missense(1)	ovary(1)	5											146	130	136					5																	173036352		2203	4300	6503	172968958	SO:0001583	missense	91272			AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"biorientation defective 1"		"family with sequence similarity 44, member B"	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.448G>A	5.37:g.173036352C>T	ENSP00000309644:p.Glu150Lys		172968958	B4DXH8|Q9BTW1	Missense_Mutation	SNP	ENST00000311086.4	37	CCDS4389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.869627|5.869627	0.97049|0.97049	.|.	.|.	ENSG00000145919|ENSG00000145919	ENST00000311086|ENST00000477985	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77538|0.77538	0.4145|0.4145	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.76075|0.76075	-0.3092|-0.3092	9|5	0.87932|.	D|.	0|.	-39.1734|-39.1734	19.7198|19.7198	0.96137|0.96137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150|.	Q96IK1|.	BOD1_HUMAN|.	K|K	150|82	.|.	ENSP00000309644:E150K|.	E|R	-|-	1|2	0|0	BOD1|BOD1	172968958|172968958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.474000|7.474000	0.81024|0.81024	2.668000|2.668000	0.90789|0.90789	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.527	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252963.1	NM_138369		T	173036352	C	T	173036352	3	4	216	1	0	0	0	0	1	0	0	0	1482	922	32	2	145	2	BOD1	5	173036352	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09	1258787	173036352	7878908	16	12370											
DUSP22	56940	genome.wustl.edu	37	6	348818	348818	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr6:348818C>T	ENST00000344450.5	+	7	928	c.485C>T	c.(484-486)gCa>gTa	p.A162V	DUSP22_ENST00000603453.1_Missense_Mutation_p.A59V|DUSP22_ENST00000604971.1_Missense_Mutation_p.A59V|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Missense_Mutation_p.A59V|DUSP22_ENST00000419235.2_Missense_Mutation_p.A162V	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	162					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A162V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TTGCAGGATGCAGAAGAAGCC	0.557																																																1	Substitution - Missense(1)	ovary(1)	6											133	121	125					6																	348818		2203	4300	6503	293818	SO:0001583	missense	56940			AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.485C>T	6.37:g.348818C>T	ENSP00000345281:p.Ala162Val		293818	B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304108	0.40795	.	.	ENSG00000112679	ENST00000344450	T	0.04406	3.63	4.8	3.94	0.45596	.	0.457704	0.22127	N	0.064244	T	0.01189	0.0039	L	0.36672	1.1	0.27341	N	0.956495	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.06405	0.002;0.001;0.002	T	0.47129	-0.9141	10	0.27785	T	0.31	.	4.1756	0.10349	0.3106:0.5081:0.0:0.1813	.	162;119;162	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	V	162	ENSP00000345281:A162V	ENSP00000345281:A162V	A	+	2	0	DUSP22	293818	0.579000	0.26725	0.979000	0.43373	0.976000	0.68499	1.021000	0.30040	1.141000	0.42275	0.655000	0.94253	GCA		0.557	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		T	348818	C	T	348818	3	4	216	1	0	0	0	0	1	0	0	0	4821	710	25	2	511	2	DUSP22	6	348818	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09		348818	170766249	17	12371											
COL19A1	1310	genome.wustl.edu	37	6	70733536	70733536	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr6:70733536A>T	ENST00000322773.4	+	12	1146	c.1044A>T	c.(1042-1044)aaA>aaT	p.K348N		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	348	Collagen-like 1.|Triple-helical region 1 (COL1).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.K348N(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAGGAGAAAAAGGAGATCCAG	0.323																																																1	Substitution - Missense(1)	ovary(1)	6											86	85	86					6																	70733536		2203	4300	6503	70790257	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1044A>T	6.37:g.70733536A>T	ENSP00000316030:p.Lys348Asn		70790257	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.789901	0.31685	.	.	ENSG00000082293	ENST00000322773	D	0.96587	-4.06	5.5	3.09	0.35607	.	0.133462	0.52532	D	0.000080	D	0.95140	0.8425	M	0.69463	2.115	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	D	0.92898	0.6337	10	0.23302	T	0.38	.	9.4425	0.38677	0.8532:0.0:0.1468:0.0	.	348	Q14993	COJA1_HUMAN	N	348	ENSP00000316030:K348N	ENSP00000316030:K348N	K	+	3	2	COL19A1	70790257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.250000	0.43178	0.930000	0.37217	0.533000	0.62120	AAA		0.323	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			T	70733536	A	T	70733536	3	4	216	1	0	0	0	0	1	0	0	0	3676	69	3	5	1086	5	COL19A1	6	70733536	Missense_Mutation	SNP	A	TCGA-24-1418-01A-01W-0549-09	70384718	70733536	100381531	18	12372											
TRDN	10345	genome.wustl.edu	37	6	123869664	123869664	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr6:123869664A>T	ENST00000398178.3	-	3	347	c.326T>A	c.(325-327)tTg>tAg	p.L109*	TRDN_ENST00000542443.1_Nonsense_Mutation_p.L109*|TRDN_ENST00000546248.1_Nonsense_Mutation_p.L109*|TRDN_ENST00000334268.4_Nonsense_Mutation_p.L109*	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	109					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.L109*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTCAGATAACAAAGAAAAGAA	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	6											52	53	53					6																	123869664		1846	4092	5938	123911363	SO:0001587	stop_gained	10345			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.326T>A	6.37:g.123869664A>T	ENSP00000381240:p.Leu109*		123911363	A5D6W5|F5H2W7|Q6NSB8	Nonsense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	A	32	5.144860	0.94603	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000333613;ENST00000542443;ENST00000265491	.	.	.	5.29	5.29	0.74685	.	0.096709	0.43919	D	0.000511	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9386	13.7886	0.63126	1.0:0.0:0.0:0.0	.	.	.	.	X	109;109;109;109;109;109;14;109;14	.	ENSP00000265491:L14X	L	-	2	0	TRDN	123911363	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.656000	0.67988	1.983000	0.57843	0.533000	0.62120	TTG		0.393	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	123869664	A	T	123869664	4	4	216	1	0	0	0	0	0	1	0	0	16468	131	5	5	2019	5	TRDN	6	123869664	Nonsense_Mutation	SNP	A	TCGA-24-1418-01A-01W-0549-09	53136128	123869664	47245403	19	12373											
KLHL9	55958	genome.wustl.edu	37	9	21333117	21333117	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr9:21333117G>A	ENST00000359039.4	-	1	2262	c.1742C>T	c.(1741-1743)cCa>cTa	p.P581L	KLHL9_ENST00000537938.1_Missense_Mutation_p.P513L			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	581					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.P581L(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGTGACTCTGGAAGATCAAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	9											120	120	120					9																	21333117		2203	4300	6503	21323117	SO:0001583	missense	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1742C>T	9.37:g.21333117G>A	ENSP00000351933:p.Pro581Leu		21323117	Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417943	0.42918	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70164	-0.46;-0.46	4.66	4.66	0.58398	Galactose oxidase, beta-propeller (1);	0.203853	0.42172	D	0.000750	T	0.71333	0.3327	M	0.62266	1.93	0.80722	D	1	B	0.33857	0.429	P	0.47134	0.539	T	0.64437	-0.6408	10	0.12103	T	0.63	.	15.4657	0.75397	0.0:0.0:1.0:0.0	.	581	Q9P2J3	KLHL9_HUMAN	L	581;513	ENSP00000351933:P581L;ENSP00000437733:P513L	ENSP00000351933:P581L	P	-	2	0	KLHL9	21323117	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.701000	0.84566	2.590000	0.87494	0.655000	0.94253	CCA		0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		A	21333117	G	A	21333117	3	1	216	1	0	0	0	0	1	0	0	0	8396	1348	47	2	115	2	KLHL9	9	21333117	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09		21333117	119880314	20	12374											
CNTNAP3	79937	genome.wustl.edu	37	9	39086820	39086820	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr9:39086820C>G	ENST00000297668.6	-	20	3320	c.3247G>C	c.(3247-3249)Gat>Cat	p.D1083H	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D995H|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D1002H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1083	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1083H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGATGTCTATCTAGCTTGTAC	0.328																																																1	Substitution - Missense(1)	ovary(1)	9											4	4	4					9																	39086820		1728	3625	5353	39076820	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3247G>C	9.37:g.39086820C>G	ENSP00000297668:p.Asp1083His		39076820	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	6.597	0.478434	0.12521	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.79653	-1.29;-1.29;-1.29	2.73	1.82	0.25136	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.73164	0.3552	L	0.45581	1.43	0.80722	D	1	B;B;B	0.29988	0.264;0.192;0.089	B;B;B	0.32289	0.071;0.143;0.125	T	0.69457	-0.5140	9	0.66056	D	0.02	.	8.5714	0.33572	0.0:0.8769:0.0:0.1231	.	1083;1002;1083	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	H	1083;1002;995	ENSP00000297668:D1083H;ENSP00000366884:D1002H;ENSP00000350863:D995H	ENSP00000297668:D1083H	D	-	1	0	CNTNAP3	39076820	1.000000	0.71417	0.304000	0.25085	0.724000	0.41520	1.167000	0.31847	0.486000	0.27676	0.306000	0.20318	GAT		0.328	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		G	39086820	C	G	39086820	3	3	216	1	0	0	0	0	1	0	0	0	3648	913	32	3	639	3	CNTNAP3	9	39086820	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09	17753703	39086820	102126611	21	12375											
GDA	9615	genome.wustl.edu	37	9	74860096	74860096	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr9:74860096G>A	ENST00000358399.3	+	12	1261	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	GDA_ENST00000238018.4_Missense_Mutation_p.E390K|GDA_ENST00000376989.3_Missense_Mutation_p.E329K|GDA_ENST00000545168.1_Missense_Mutation_p.E316K|GDA_ENST00000376986.1_Missense_Mutation_p.E312K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	390					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.E390K(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGGAAACTTTGAAGTGGGCAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	9											208	203	205					9																	74860096		2203	4300	6503	74049916	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1168G>A	9.37:g.74860096G>A	ENSP00000351170:p.Glu390Lys		74049916	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041844	0.55003	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.3	5.3	0.74995	Amidohydrolase 1 (1);	0.046040	0.85682	D	0.000000	D	0.91858	0.7423	L	0.60455	1.87	0.80722	D	1	P;P;P	0.38250	0.616;0.571;0.624	B;B;B	0.44224	0.444;0.154;0.174	D	0.90314	0.4339	10	0.31617	T	0.26	-13.9582	16.2414	0.82409	0.0:0.0:1.0:0.0	.	312;390;390	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	K	316;390;329;312;390;98	ENSP00000437972:E316K;ENSP00000238018:E390K;ENSP00000366188:E329K;ENSP00000366185:E312K;ENSP00000351170:E390K;ENSP00000400857:E98K	ENSP00000238018:E390K	E	+	1	0	GDA	74049916	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.831000	0.69330	2.633000	0.89246	0.650000	0.86243	GAA		0.448	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			A	74860096	G	A	74860096	3	1	216	1	0	0	0	0	1	0	0	0	6306	1291	45	2	1214	2	GDA	9	74860096	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09	35773276	74860096	66353335	22	12376											
MUSK	4593	genome.wustl.edu	37	9	113530182	113530182	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr9:113530182G>A	ENST00000374448.4	+	9	1137	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I	MUSK_ENST00000416899.2_Missense_Mutation_p.V335I|MUSK_ENST00000189978.5_Missense_Mutation_p.V335I	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	335	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V335I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGATGCTCTTGTTTTTCTCAA	0.512																																																1	Substitution - Missense(1)	ovary(1)	9											104	106	105					9																	113530182		1930	4136	6066	112570003	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1003G>A	9.37:g.113530182G>A	ENSP00000363571:p.Val335Ile		112570003	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840046	0.91117	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000416899	T	0.76316	-1.01	5.08	5.08	0.68730	Frizzled domain (3);	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	M	0.74647	2.275	0.80722	D	1	D	0.67145	0.996	D	0.87578	0.998	D	0.87761	0.2598	10	0.48119	T	0.1	.	17.8228	0.88655	0.0:0.0:1.0:0.0	.	335	O15146	MUSK_HUMAN	I	341;335;335;341	ENSP00000363571:V335I	ENSP00000189978:V341I	V	+	1	0	MUSK	112570003	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.443000	0.80521	2.545000	0.85829	0.591000	0.81541	GTT		0.512	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113530182	G	A	113530182	3	1	216	1	0	0	0	0	1	0	0	0	9989	1377	48	2	1067	2	MUSK	9	113530182	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09	38670086	113530182	27683249	23	12377											
SETX	23064	genome.wustl.edu	37	9	135202589	135202589	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr9:135202589C>A	ENST00000224140.5	-	10	4578	c.4396G>T	c.(4396-4398)Ggt>Tgt	p.G1466C	SETX_ENST00000372169.2_Missense_Mutation_p.G1466C|SETX_ENST00000393220.1_Missense_Mutation_p.G1466C	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1466					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.G1466C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCACCTCCACCCAGAGGGTCT	0.433																																																1	Substitution - Missense(1)	ovary(1)	9											150	141	144					9																	135202589		2203	4300	6503	134192410	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4396G>T	9.37:g.135202589C>A	ENSP00000224140:p.Gly1466Cys		134192410	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	9.888	1.203379	0.22121	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87412	-2.16;-2.25;-1.86	5.31	3.47	0.39725	.	0.968070	0.08482	N	0.939300	D	0.90442	0.7007	L	0.56769	1.78	0.09310	N	1	D;D;D	0.65815	0.995;0.983;0.995	P;P;P	0.58873	0.789;0.62;0.847	T	0.79070	-0.1954	10	0.59425	D	0.04	.	10.3324	0.43831	0.0:0.8427:0.0:0.1573	.	1466;1466;1466	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	C	1466	ENSP00000224140:G1466C;ENSP00000361242:G1466C;ENSP00000376913:G1466C	ENSP00000224140:G1466C	G	-	1	0	SETX	134192410	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	0.697000	0.25556	1.250000	0.43966	-0.136000	0.14681	GGT		0.433	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		A	135202589	C	A	135202589	3	1	216	1	0	0	0	0	1	0	0	0	14144	623	22	3	3705	3	SETX	9	135202589	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09	21672407	135202589	6010842	24	12378											
MYO3A	53904	genome.wustl.edu	37	10	26463053	26463053	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr10:26463053C>A	ENST00000265944.5	+	30	4026	c.3860C>A	c.(3859-3861)cCt>cAt	p.P1287H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1287			P -> T (in dbSNP:rs35575696). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P1287H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTTTGGAACCTACACTTAGC	0.418																																																1	Substitution - Missense(1)	ovary(1)	10											61	65	63					10																	26463053		2203	4300	6503	26503059	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3860C>A	10.37:g.26463053C>A	ENSP00000265944:p.Pro1287His		26503059	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	5.954	0.360016	0.11296	.	.	ENSG00000095777	ENST00000265944	T	0.77229	-1.08	5.63	4.72	0.59763	.	0.821445	0.11667	N	0.541242	T	0.68016	0.2955	L	0.29908	0.895	0.48901	D	0.999725	P	0.41748	0.761	B	0.38500	0.275	T	0.64145	-0.6476	10	0.45353	T	0.12	.	11.4708	0.50268	0.1414:0.7225:0.136:0.0	.	1287	Q8NEV4	MYO3A_HUMAN	H	1287	ENSP00000265944:P1287H	ENSP00000265944:P1287H	P	+	2	0	MYO3A	26503059	0.020000	0.18652	0.021000	0.16686	0.152000	0.21847	0.668000	0.25127	1.355000	0.45865	0.563000	0.77884	CCT		0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26463053	C	A	26463053	3	1	216	1	0	0	0	0	1	0	0	0	10076	681	24	3	3970	3	MYO3A	10	26463053	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09		26463053	109071694	25	12379											
PARG	8505	genome.wustl.edu	37	10	51069692	51069692	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr10:51069692G>A	ENST00000402038.3	-	8	691	c.692C>T	c.(691-693)aCa>aTa	p.T231I		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	716	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.T716I(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		ATGCAATCGTGTCAAGGGTTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	10											34	42	39					10																	51069692		692	1581	2273	50739698	SO:0001583	missense	8505			AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.692C>T	10.37:g.51069692G>A	ENSP00000384408:p.Thr231Ile		50739698	A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37		.	.	.	.	.	.	.	.	.	.	G	15.07	2.725143	0.48833	.	.	ENSG00000227345	ENST00000402038	.	.	.	4.75	4.75	0.60458	.	0.083859	0.46758	U	0.000274	T	0.67636	0.2914	L	0.43152	1.355	.	.	.	D;D;D;D;D;D	0.63046	0.973;0.992;0.988;0.96;0.96;0.992	P;D;P;P;P;D	0.64595	0.807;0.927;0.78;0.78;0.844;0.927	T	0.68014	-0.5521	8	0.36615	T	0.2	-3.7512	17.3468	0.87311	0.0:0.0:1.0:0.0	.	634;716;267;231;256;716	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	I	231	.	ENSP00000384408:T231I	T	-	2	0	PARG	50739698	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.591000	0.61019	2.170000	0.68504	0.462000	0.41574	ACA		0.358	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		A	51069692	G	A	51069692	3	1	216	1	0	0	0	0	1	0	0	0	11448	1377	48	2	811	2	PARG	10	51069692	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09	24606639	51069692	84465055	26	12380											
ANK3	288	genome.wustl.edu	37	10	61967903	61967903	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr10:61967903T>C	ENST00000280772.2	-	10	1276	c.1085A>G	c.(1084-1086)gAt>gGt	p.D362G	ANK3_ENST00000503366.1_Missense_Mutation_p.D345G|ANK3_ENST00000373827.2_Missense_Mutation_p.D356G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	362					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D362G(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTGGTGACATCATCCACGGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	10											201	158	173					10																	61967903		2203	4300	6503	61637909	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1085A>G	10.37:g.61967903T>C	ENSP00000280772:p.Asp362Gly		61637909	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476912	0.84640	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304	T;T;T	0.15718	2.4;2.4;2.4	4.78	4.78	0.61160	Ankyrin repeat-containing domain (4);	0.000000	0.44285	D	0.000468	T	0.32194	0.0821	L	0.37697	1.125	0.80722	D	1	P;D;D;D	0.89917	0.954;0.992;0.993;1.0	P;P;D;D	0.91635	0.814;0.905;0.973;0.999	T	0.06144	-1.0843	10	0.87932	D	0	.	14.4831	0.67597	0.0:0.0:0.0:1.0	.	345;23;356;362	E9PE32;E7EMJ1;Q5CZH9;Q12955	.;.;.;ANK3_HUMAN	G	362;356;345;324;23;23	ENSP00000280772:D362G;ENSP00000362933:D356G;ENSP00000425236:D345G	ENSP00000280772:D362G	D	-	2	0	ANK3	61637909	1.000000	0.71417	0.476000	0.27291	0.966000	0.64601	7.825000	0.86693	2.014000	0.59158	0.460000	0.39030	GAT		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61967903	T	C	61967903	3	2	216	1	0	0	0	0	1	0	0	0	622	1435	50	4	12517	4	ANK3	10	61967903	Missense_Mutation	SNP	T	TCGA-24-1418-01A-01W-0549-09	10898211	61967903	73566844	27	12381											
DNA2	1763	genome.wustl.edu	37	10	70182344	70182344	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr10:70182344T>A	ENST00000358410.3	-	16	2470	c.2420A>T	c.(2419-2421)gAa>gTa	p.E807V	DNA2_ENST00000399180.2_Missense_Mutation_p.E893V|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	807	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GAATAAGCTTTCACTCATGCC	0.363																																																0			10											214	201	205					10																	70182344		1875	4105	5980	69852350	SO:0001583	missense	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2420A>T	10.37:g.70182344T>A	ENSP00000351185:p.Glu807Val		69852350	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.25|12.25	1.882360|1.882360	0.33255|0.33255	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	T;T|.	0.80566|.	-1.39;-1.39|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.58764|.	0.2145|.	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.55444|.	-0.8140|.	10|.	0.25106|.	T|.	0.35|.	.|.	15.6974|15.6974	0.77512|0.77512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	807|.	P51530|.	DNA2L_HUMAN|.	V|C	893;807|128	ENSP00000382133:E893V;ENSP00000351185:E807V|.	ENSP00000351185:E807V|.	E|X	-|-	2|3	0|0	DNA2|DNA2	69852350|69852350	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.714000|7.714000	0.84703|0.84703	2.108000|2.108000	0.64289|0.64289	0.528000|0.528000	0.53228|0.53228	GAA|TGA		0.363	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			A	70182344	T	A	70182344	3	1	216	1	0	0	0	0	1	0	0	0	4596	1783	62	5	786	5	DNA2	10	70182344	Missense_Mutation	SNP	T	TCGA-24-1418-01A-01W-0549-09	8214441	70182344	65352403	28	12382											
KIF18A	81930	genome.wustl.edu	37	11	28058014	28058014	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr11:28058014T>A	ENST00000263181.6	-	14	2436	c.2146A>T	c.(2146-2148)Aat>Tat	p.N716Y		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	716					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.N716Y(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTAGACGGATTTTGAAAAGCT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11											115	117	116					11																	28058014		2202	4298	6500	28014590	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2146A>T	11.37:g.28058014T>A	ENSP00000263181:p.Asn716Tyr		28014590	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421798	0.43020	.	.	ENSG00000121621	ENST00000263181	T	0.72725	-0.68	5.87	2.2	0.27929	.	0.282420	0.34932	N	0.003561	T	0.55049	0.1896	L	0.47716	1.5	0.09310	N	1	P	0.38863	0.65	B	0.31751	0.135	T	0.51293	-0.8724	10	0.62326	D	0.03	.	5.372	0.16144	0.2712:0.0737:0.0:0.6551	.	716	Q8NI77	KI18A_HUMAN	Y	716	ENSP00000263181:N716Y	ENSP00000263181:N716Y	N	-	1	0	KIF18A	28014590	0.090000	0.21635	0.001000	0.08648	0.335000	0.28730	1.756000	0.38390	0.180000	0.19960	0.533000	0.62120	AAT		0.358	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		A	28058014	T	A	28058014	3	1	216	1	0	0	0	0	1	0	0	0	8280	1841	64	5	566	5	KIF18A	11	28058014	Missense_Mutation	SNP	T	TCGA-24-1418-01A-01W-0549-09		28058014	106948502	29	12383											
FAM111A	63901	genome.wustl.edu	37	11	58920334	58920334	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr11:58920334G>C	ENST00000528737.1	+	5	4011	c.1193G>C	c.(1192-1194)aGt>aCt	p.S398T	FAM111A_ENST00000361723.3_Missense_Mutation_p.S398T|FAM111A_ENST00000531147.1_Missense_Mutation_p.S398T|FAM111A_ENST00000533703.1_Missense_Mutation_p.S398T|FAM111A_ENST00000420244.1_Missense_Mutation_p.S398T			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	398	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S398T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ATAGAGCCAAGTAAGTGGGCA	0.393																																																1	Substitution - Missense(1)	ovary(1)	11											163	162	163					11																	58920334		2201	4295	6496	58676910	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1193G>C	11.37:g.58920334G>C	ENSP00000434435:p.Ser398Thr		58676910	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893414	0.33442	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.73	1.09	0.20402	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.719821	0.13532	N	0.380877	T	0.30355	0.0762	L	0.46157	1.445	0.09310	N	1	B	0.27013	0.166	B	0.28553	0.091	T	0.19257	-1.0311	10	0.27785	T	0.31	-7.6407	4.1103	0.10055	0.2483:0.3737:0.378:0.0	.	398	Q96PZ2	F111A_HUMAN	T	398	ENSP00000434435:S398T;ENSP00000406683:S398T;ENSP00000355264:S398T;ENSP00000433154:S398T;ENSP00000431631:S398T	ENSP00000355264:S398T	S	+	2	0	FAM111A	58676910	0.000000	0.05858	0.001000	0.08648	0.274000	0.26718	-0.045000	0.12003	0.409000	0.25649	0.655000	0.94253	AGT		0.393	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		C	58920334	G	C	58920334	3	2	216	1	0	0	0	0	1	0	0	0	5399	1029	36	3	1199	3	FAM111A	11	58920334	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09	30862320	58920334	76086182	30	12384											
PLAC1L	219990	genome.wustl.edu	37	11	59811021	59811021	+	Silent	SNP	G	G	A	rs199849874		TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr11:59811021G>A	ENST00000278855.2	+	2	329	c.144G>A	c.(142-144)gcG>gcA	p.A48A	PLAC1L_ENST00000532905.1_Silent_p.A17A	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		48						extracellular region (GO:0005576)		p.A48A(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATATATTTGCGGATGAATTAC	0.403																																																1	Substitution - coding silent(1)	ovary(1)	11						G		0,4402		0,0,2201	121	119	120		144	-1.8	0.1	11		120	1,8589	1.2+/-3.3	0,1,4294	yes	coding-synonymous	PLAC1L	NM_173801.3		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		48/159	59811021	1,12991	2201	4295	6496	59567597	SO:0001819	synonymous_variant	219990																														ENST00000278855.2:c.144G>A	11.37:g.59811021G>A			59567597	E9PJA4|Q8N9U6	Silent	SNP	ENST00000278855.2	37	CCDS7979.1																																																																																				0.403	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			A	59811021	G	A	59811021	2	1	216	1	0	0	0	0	0	0	0	1	12013	1103	39	1		1	PLAC1L	11	59811021	Silent	SNP	G	TCGA-24-1418-01A-01W-0549-09	890687	59811021	75195495	31	12385											
OR8A1	390275	genome.wustl.edu	37	11	124440425	124440425	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr11:124440425C>T	ENST00000284287.3	+	1	533	c.461C>T	c.(460-462)tCt>tTt	p.S154F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	154					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S154F(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ATCATTATGTCTCATCACACC	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											160	135	144					11																	124440425		2201	4299	6500	123945635	SO:0001583	missense	390275			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.461C>T	11.37:g.124440425C>T	ENSP00000284287:p.Ser154Phe		123945635	Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449247	0.43531	.	.	ENSG00000196119	ENST00000284287	T	0.42131	0.98	5.03	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.309751	0.23364	N	0.048991	T	0.58779	0.2146	H	0.94582	3.555	0.09310	N	0.999995	B	0.21905	0.062	B	0.30316	0.114	T	0.60031	-0.7342	10	0.87932	D	0	.	13.7302	0.62783	0.0:0.5327:0.4672:0.0	.	154	Q8NGG7	OR8A1_HUMAN	F	154	ENSP00000284287:S154F	ENSP00000284287:S154F	S	+	2	0	OR8A1	123945635	0.003000	0.15002	0.881000	0.34555	0.639000	0.38242	0.534000	0.23098	1.316000	0.45131	0.650000	0.86243	TCT		0.483	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		T	124440425	C	T	124440425	3	4	216	1	0	0	0	0	1	0	0	0	11225	913	32	2	463	2	OR8A1	11	124440425	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09	64629404	124440425	10566091	32	12386											
CACNA1C	775	genome.wustl.edu	37	12	2613667	2613667	+	Silent	SNP	C	C	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr12:2613667C>A	ENST00000399617.1	+	8	1179	c.1179C>A	c.(1177-1179)tcC>tcA	p.S393S	CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399603.1_Silent_p.S393S|CACNA1C_ENST00000406454.3_Silent_p.S393S|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399641.1_Silent_p.S393S|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399634.1_Silent_p.S393S|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000402845.3_Intron	NM_001167624.1	NP_001161096.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	393					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTTTGGATCCTTTTTCGTTC	0.488																																																0			12											308	256	272					12																	2613667		1568	3582	5150	2483928	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399617.1:c.1179C>A	12.37:g.2613667C>A			2483928	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000399617.1	37	CCDS53733.1																																																																																				0.488	CACNA1C-013	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317031.1	NM_000719		A	2613667	C	A	2613667	2	1	216	1	0	0	0	0	0	0	0	1	2540	668	24	3		3	CACNA1C	12	2613667	Silent	SNP	C	TCGA-24-1418-01A-01W-0549-09		2613667	131238228	33	12387											
RIC8B	55188	genome.wustl.edu	37	12	107208754	107208754	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr12:107208754T>G	ENST00000392839.2	+	3	519	c.413T>G	c.(412-414)cTt>cGt	p.L138R	RIC8B_ENST00000392837.4_Missense_Mutation_p.L138R|RIC8B_ENST00000355478.2_Missense_Mutation_p.L98R|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	138					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.L138R(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						AGCCTGGAACTTAATCTTGCT	0.423																																																1	Substitution - Missense(1)	ovary(1)	12											95	94	94					12																	107208754		2203	4300	6503	105732884	SO:0001583	missense	55188			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.413T>G	12.37:g.107208754T>G	ENSP00000376583:p.Leu138Arg		105732884	A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039203	0.75617	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	T;T;T	0.50813	0.73;0.73;0.73	5.76	5.76	0.90799	Armadillo-type fold (1);	0.061109	0.64402	D	0.000002	T	0.63094	0.2482	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77004	0.974;0.985;0.989	T	0.58211	-0.7676	10	0.24483	T	0.36	-3.9372	16.0796	0.80995	0.0:0.0:0.0:1.0	.	98;138;138	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	R	138;138;98	ENSP00000376582:L138R;ENSP00000376583:L138R;ENSP00000347662:L98R	ENSP00000347662:L98R	L	+	2	0	RIC8B	105732884	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.471000	0.80985	2.206000	0.71126	0.533000	0.62120	CTT		0.423	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		G	107208754	T	G	107208754	3	3	216	1	0	0	0	0	1	0	0	0	13359	1609	56	5	423	5	RIC8B	12	107208754	Missense_Mutation	SNP	T	TCGA-24-1418-01A-01W-0549-09	104595087	107208754	26643141	34	12388											
NALCN	259232	genome.wustl.edu	37	13	101944593	101944593	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr13:101944593G>T	ENST00000251127.6	-	8	1005	c.924C>A	c.(922-924)ttC>ttA	p.F308L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.F308L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	308					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.F308L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCAGGCGAGGAAGAAAATGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	13											76	61	66					13																	101944593		2203	4300	6503	100742594	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.924C>A	13.37:g.101944593G>T	ENSP00000251127:p.Phe308Leu		100742594	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998521	0.74818	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.97941	-4.62;-4.62	6.16	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	L	0.33293	1	0.80722	D	1	D;P;P	0.55172	0.97;0.807;0.737	P;P;P	0.58013	0.831;0.498;0.649	D	0.94425	0.7644	10	0.21540	T	0.41	.	14.1163	0.65156	0.1091:0.0:0.8909:0.0	.	308;308;308	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	L	308	ENSP00000251127:F308L;ENSP00000365367:F308L	ENSP00000251127:F308L	F	-	3	2	NALCN	100742594	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.424000	0.44714	2.937000	0.99478	0.650000	0.86243	TTC		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		T	101944593	G	T	101944593	3	4	216	1	0	0	0	0	1	0	0	0	10148	1165	41	3	4440	3	NALCN	13	101944593	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09		101944593	13225285	35	12389											
PARN	5073	genome.wustl.edu	37	16	14649545	14649545	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr16:14649545C>G	ENST00000437198.2	-	19	1425	c.1284G>C	c.(1282-1284)atG>atC	p.M428I	PARN_ENST00000341484.7_Missense_Mutation_p.M367I|PARN_ENST00000539279.1_Missense_Mutation_p.M253I|PARN_ENST00000420015.2_Missense_Mutation_p.M382I	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	428					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.M428I(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						AGGGGATATCCATGACCCTCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	16											63	56	58					16																	14649545		1811	4069	5880	14557046	SO:0001583	missense	5073			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1284G>C	16.37:g.14649545C>G	ENSP00000387911:p.Met428Ile		14557046	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893252	0.33442	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.76	5.76	0.90799	.	0.074477	0.85682	D	0.000000	T	0.36138	0.0956	N	0.03115	-0.41	0.44409	D	0.997324	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.09377	0.004;0.002;0.001	T	0.18618	-1.0331	9	0.24483	T	0.36	-14.7373	17.4573	0.87610	0.0:1.0:0.0:0.0	.	253;382;428	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	I	428;367;382;253	.	ENSP00000345456:M367I	M	-	3	0	PARN	14557046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.495000	0.35627	2.714000	0.92807	0.591000	0.81541	ATG		0.348	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		G	14649545	C	G	14649545	3	3	216	1	0	0	0	0	1	0	0	0	11453	594	21	3	659	3	PARN	16	14649545	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09		14649545	75705208	36	12390											
N4BP1	9683	genome.wustl.edu	37	16	48595211	48595211	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr16:48595211T>C	ENST00000262384.3	-	2	1579	c.1343A>G	c.(1342-1344)aAa>aGa	p.K448R	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	448					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.K448R(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AGCTTCCACTTTGAATGGTAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	16											109	101	104					16																	48595211		1854	4098	5952	47152712	SO:0001583	missense	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1343A>G	16.37:g.48595211T>C	ENSP00000262384:p.Lys448Arg		47152712	A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	T	6.118	0.389929	0.11581	.	.	ENSG00000102921	ENST00000262384	T	0.47528	0.84	5.71	-1.13	0.09775	.	0.634648	0.16817	N	0.198316	T	0.24084	0.0583	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18116	-1.0347	10	0.19590	T	0.45	-13.5351	12.9746	0.58531	0.0:0.3782:0.0:0.6218	.	448	O75113	N4BP1_HUMAN	R	448	ENSP00000262384:K448R	ENSP00000262384:K448R	K	-	2	0	N4BP1	47152712	0.001000	0.12720	0.902000	0.35471	0.875000	0.50365	-0.440000	0.06888	-0.128000	0.11641	-0.605000	0.04089	AAA		0.373	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		C	48595211	T	C	48595211	3	2	216	1	0	0	0	0	1	0	0	0	10109	1841	64	4	1371	4	N4BP1	16	48595211	Missense_Mutation	SNP	T	TCGA-24-1418-01A-01W-0549-09	33945666	48595211	41759542	37	12391											
TP53	7157	genome.wustl.edu	37	17	7577599	7577600	+	Frame_Shift_Ins	INS	-	-	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	-	-	-	A	-	-	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr17:7577599_7577600insA	ENST00000269305.4	-	7	870_871	c.681_682insT	c.(679-684)tctgacfs	p.D228fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Frame_Shift_Ins_p.D228fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D228fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.D228fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D228fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D228fs	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	228	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.D228N(6)|p.?(5)|p.S227S(3)|p.D228Y(2)|p.?fs(2)|p.V225_S227delVGS(2)|p.S227fs*1(1)|p.G226_D228delGSD(1)|p.D228fs*1(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.D228fs*11(1)|p.S227_I232delSDCTTI(1)|p.D228H(1)|p.D228fs*19(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)	GTGGTACAGTCAGAGCCAACCT	0.525		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"	37	Substitution - Missense(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(3)|Substitution - coding silent(3)	biliary_tract(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(4)|breast(4)|bone(4)|oesophagus(2)|lung(2)|ovary(2)|liver(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|pancreas(1)	17																																								7518325	SO:0001589	frameshift_variant	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.682dupT	17.37:g.7577600_7577600dupA	ENSP00000269305:p.Asp228fs		7518324	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.525	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577600	-	A	7577599	7	5	216	1	0	1	1	0	0	0	0	0	16381	826	29	0	608	0	TP53	17	7577599	Frame_Shift_Ins	INS	-	TCGA-24-1418-01A-01W-0549-09		7577599	73617611	38	12392											
KRT23	25984	genome.wustl.edu	37	17	39081622	39081622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr17:39081622C>A	ENST00000209718.3	-	7	1550	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Nonsense_Mutation_p.E239*	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	376	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E376*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CTCTCTCCCTCCAGGAGCCGT	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	17											165	127	140					17																	39081622		2203	4300	6503	36335148	SO:0001587	stop_gained	25984			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.1126G>T	17.37:g.39081622C>A	ENSP00000209718:p.Glu376*		36335148	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Nonsense_Mutation	SNP	ENST00000209718.3	37	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	39	7.607467	0.98387	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	.	.	.	5.49	5.49	0.81192	.	0.114249	0.38778	N	0.001577	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3809	0.94532	0.0:1.0:0.0:0.0	.	.	.	.	X	376;239	.	ENSP00000209718:E376X	E	-	1	0	KRT23	36335148	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.485000	0.81204	2.581000	0.87130	0.655000	0.94253	GAG		0.552	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			A	39081622	C	A	39081622	4	1	216	1	0	0	0	0	0	1	0	0	8460	864	30	3	154	3	KRT23	17	39081622	Nonsense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09	31504023	39081622	42113588	39	12393											
TMEM146	257062	genome.wustl.edu	37	19	5771046	5771046	+	Missense_Mutation	SNP	G	G	A	rs374184519		TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr19:5771046G>A	ENST00000381624.3	+	19	1787	c.1726G>A	c.(1726-1728)Gtc>Atc	p.V576I	CATSPERD_ENST00000381614.2_Missense_Mutation_p.V234I|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	576					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.V576I(1)									TCCTCTCCTCGTCTACTATGA	0.627																																																1	Substitution - Missense(1)	ovary(1)	19						G	ILE/VAL	0,3828		0,0,1914	68	67	67		1726	2.1	1	19		67	2,8258		0,2,4128	no	missense	TMEM146	NM_152784.3	29	0,2,6042	AA,AG,GG		0.0242,0.0,0.0165	probably-damaging	576/799	5771046	2,12086	1914	4130	6044	5722046	SO:0001583	missense	257062			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1726G>A	19.37:g.5771046G>A	ENSP00000371037:p.Val576Ile		5722046	Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336965	0.24253	0.0	2.42E-4	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.26810	1.71;1.71	3.13	2.09	0.27110	.	0.708561	0.11607	N	0.547158	T	0.39172	0.1068	M	0.61703	1.905	0.22081	N	0.999375	D;D	0.71674	0.992;0.998	P;P	0.60068	0.695;0.868	T	0.12604	-1.0541	10	0.66056	D	0.02	-22.218	5.9475	0.19227	0.1443:0.0:0.8557:0.0	.	502;576	B7WNK5;Q86XM0	.;TM146_HUMAN	I	502;576;234;247;245	ENSP00000371037:V576I;ENSP00000371027:V234I	ENSP00000310546:V247I	V	+	1	0	TMEM146	5722046	0.801000	0.28930	0.970000	0.41538	0.141000	0.21300	0.925000	0.28791	0.883000	0.36040	0.563000	0.77884	GTC		0.627	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		A	5771046	G	A	5771046	3	1	216	1	0	0	0	0	1	0	0	0	16060	1145	40	1	1800	1	TMEM146	19	5771046	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09		5771046	53357937	40	12394											
MED25	81857	genome.wustl.edu	37	19	50333062	50333062	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr19:50333062T>C	ENST00000312865.6	+	6	598	c.545T>C	c.(544-546)aTt>aCt	p.I182T	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	182	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)	p.I182T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CACTTCTCCATTGTGTCTCCC	0.652																																					GBM(51;894 1657 37868)											1	Substitution - Missense(1)	ovary(1)	19											13	12	12					19																	50333062		2200	4297	6497	55024874	SO:0001583	missense	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.545T>C	19.37:g.50333062T>C	ENSP00000326767:p.Ile182Thr		55024874	A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034219	0.54896	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221;ENST00000544580	D	0.82433	-1.61	5.65	5.65	0.86999	.	0.194934	0.45361	D	0.000362	T	0.81616	0.4860	L	0.60455	1.87	0.80722	D	1	B	0.31752	0.338	B	0.33121	0.158	T	0.82242	-0.0554	10	0.87932	D	0	.	14.9931	0.71406	0.0:0.0:0.0:1.0	.	182	Q71SY5	MED25_HUMAN	T	182	ENSP00000326767:I182T	ENSP00000326767:I182T	I	+	2	0	MED25	55024874	1.000000	0.71417	0.977000	0.42913	0.651000	0.38670	4.902000	0.63266	2.371000	0.80710	0.533000	0.62120	ATT		0.652	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		C	50333062	T	C	50333062	3	2	216	1	0	0	0	0	1	0	0	0	9443	1493	52	4	567	4	MED25	19	50333062	Missense_Mutation	SNP	T	TCGA-24-1418-01A-01W-0549-09	44562016	50333062	8795921	41	12395											
PEG3	5178	genome.wustl.edu	37	19	57325380	57325380	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chr19:57325380C>A	ENST00000326441.9	-	10	4793	c.4430G>T	c.(4429-4431)gGa>gTa	p.G1477V	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1477V|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1353V|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1351V|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1477	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G1477V(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTCGGCATCTCCCTCTGGCTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											140	126	131					19																	57325380		2203	4300	6503	62017192	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4430G>T	19.37:g.57325380C>A	ENSP00000326581:p.Gly1477Val		62017192	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182719	0.38511	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03831	3.79;3.79	2.97	1.7	0.24286	.	.	.	.	.	T	0.05502	0.0145	L	0.27053	0.805	.	.	.	D;D;D	0.60160	0.983;0.982;0.987	P;P;P	0.52672	0.637;0.648;0.706	T	0.35871	-0.9771	8	0.18710	T	0.47	-15.2477	5.9165	0.19057	0.0:0.8299:0.0:0.1701	.	1353;1477;1412	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	1477	ENSP00000326581:G1477V;ENSP00000403051:G1477V	ENSP00000326581:G1477V	G	-	2	0	ZIM2	62017192	0.000000	0.05858	0.369000	0.25952	0.793000	0.44817	0.046000	0.14035	0.693000	0.31634	0.472000	0.43445	GGA		0.507	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			A	57325380	C	A	57325380	3	1	216	1	0	0	0	0	1	0	0	0	11720	855	30	3	340	3	PEG3	19	57325380	Missense_Mutation	SNP	C	TCGA-24-1418-01A-01W-0549-09	6992318	57325380	1803603	42	12396											
PTCHD1	139411	genome.wustl.edu	37	X	23411676	23411676	+	Missense_Mutation	SNP	G	G	A	rs150912089		TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chrX:23411676G>A	ENST00000379361.4	+	3	2901	c.2041G>A	c.(2041-2043)Gtc>Atc	p.V681I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	681					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.V576I(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GAAGTTCATCGTCTTCAATCC	0.483																																																1	Substitution - Missense(1)	ovary(1)	X						G	ILE/VAL	0,3835		0,0,1632,571	91	82	85		2041	5.3	1	X	dbSNP_134	85	1,6727		0,1,2427,1872	no	missense	PTCHD1	NM_173495.2	29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	681/889	23411676	1,10562	2203	4300	6503	23321597	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2041G>A	X.37:g.23411676G>A	ENSP00000368666:p.Val681Ile		23321597	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	11.70	1.718231	0.30503	0.0	1.49E-4	ENSG00000165186	ENST00000379361	D	0.87029	-2.2	5.34	5.34	0.76211	.	0.059808	0.64402	D	0.000002	T	0.78629	0.4313	N	0.13003	0.285	0.36781	D	0.884332	B	0.24258	0.1	B	0.24394	0.053	T	0.76329	-0.2999	10	0.22706	T	0.39	.	18.121	0.89571	0.0:0.0:1.0:0.0	.	681	Q96NR3	PTHD1_HUMAN	I	681	ENSP00000368666:V681I	ENSP00000368666:V681I	V	+	1	0	PTCHD1	23321597	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	6.939000	0.75911	2.216000	0.71823	0.529000	0.55759	GTC		0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		A	23411676	G	A	23411676	3	1	216	1	0	0	0	0	1	0	0	0	12735	1145	40	1	2051	1	PTCHD1	23	23411676	Missense_Mutation	SNP	G	TCGA-24-1418-01A-01W-0549-09		23411676	131858884	43	12397											
ARHGEF9	23229	genome.wustl.edu	37	X	62917093	62917093	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1418-01A-01W-0549-09	TCGA-24-1418-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6093bcb5-4889-4cb9-9b01-e4e4278e72aa	99170dcd-ecd1-4735-8bea-5ef023669cf2	g.chrX:62917093A>T	ENST00000253401.6	-	4	1273	c.473T>A	c.(472-474)tTt>tAt	p.F158Y	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.F56Y|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.F137Y|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.F156Y|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.F105Y|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	158	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F156Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GCCCATCTGAAATCTGTAGAT	0.463																																																1	Substitution - Missense(1)	ovary(1)	X											121	93	103					X																	62917093		2203	4300	6503	62833818	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.473T>A	X.37:g.62917093A>T	ENSP00000253401:p.Phe158Tyr		62833818	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812673	0.90707	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.59	5.59	0.84812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.81079	0.4748	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.987;0.995;0.987	D	0.84442	0.0583	10	0.72032	D	0.01	.	13.4906	0.61393	1.0:0.0:0.0:0.0	.	105;156;158;158	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	Y	158;156;105;56;137	ENSP00000253401:F158Y;ENSP00000364012:F156Y;ENSP00000399994:F105Y;ENSP00000364004:F56Y;ENSP00000364006:F137Y	ENSP00000253401:F158Y	F	-	2	0	ARHGEF9	62833818	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.806000	0.75195	1.865000	0.54081	0.417000	0.27973	TTT		0.463	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			T	62917093	A	T	62917093	3	4	216	1	0	0	0	0	1	0	0	0	912	14	1	5	1105	5	ARHGEF9	23	62917093	Missense_Mutation	SNP	A	TCGA-24-1418-01A-01W-0549-09	39505417	62917093	92353467	44	12398											
EPHA2	1969	broad.mit.edu	37	1	16451772	16451772	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr1:16451772G>A	ENST00000358432.5	-	17	3023	c.2869C>T	c.(2869-2871)Cgc>Tgc	p.R957C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	957	Negatively regulates interaction with ARHGEF16.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R957C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TAGGCGATGCGCTTCTGGTGG	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											57	44	48					1																	16451772		2203	4300	6503	16324359	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2869C>T	1.37:g.16451772G>A	ENSP00000351209:p.Arg957Cys		16324359	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441442	0.83993	.	.	ENSG00000142627	ENST00000358432	T	0.55234	0.53	4.88	4.88	0.63580	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.52532	D	0.000071	T	0.77412	0.4126	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.83390	0.0017	10	0.87932	D	0	.	17.007	0.86396	0.0:0.0:1.0:0.0	.	957	P29317	EPHA2_HUMAN	C	957	ENSP00000351209:R957C	ENSP00000351209:R957C	R	-	1	0	EPHA2	16324359	0.968000	0.33430	1.000000	0.80357	0.993000	0.82548	2.288000	0.43514	2.250000	0.74265	0.561000	0.74099	CGC		0.662	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		A	16451772	G	A	16451772	3	1	217	1	0	0	0	0	1	0	0	0	5167	1087	38	1	65	1	EPHA2	1	16451772	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08		16451772	232798849	1	12399											
USP24	23358	broad.mit.edu	37	1	55624694	55624694	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr1:55624694G>C	ENST00000294383.6	-	10	1083	c.1084C>G	c.(1084-1086)Cct>Gct	p.P362A	USP24_ENST00000407756.1_Missense_Mutation_p.P250A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	362					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.P331A(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGAGCTCAGGGATGCTAACC	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											49	45	46					1																	55624694		1897	4134	6031	55397282	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1084C>G	1.37:g.55624694G>C	ENSP00000294383:p.Pro362Ala		55397282	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897069	0.33535	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.63913	-0.07;4.44	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	L	0.29908	0.895	0.58432	D	0.99999	D	0.63880	0.993	D	0.70935	0.971	T	0.57888	-0.7733	10	0.07482	T	0.82	.	19.8195	0.96586	0.0:0.0:1.0:0.0	.	250	B7WPF4	.	A	362;250	ENSP00000294383:P362A;ENSP00000385700:P250A	ENSP00000294383:P362A	P	-	1	0	USP24	55397282	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.153000	0.94687	2.756000	0.94617	0.655000	0.94253	CCT		0.363	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			C	55624694	G	C	55624694	3	2	217	1	0	0	0	0	1	0	0	0	17055	1232	43	3	7014	3	USP24	1	55624694	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08	39172922	55624694	193625927	2	12400											
RSBN1	54665	broad.mit.edu	37	1	114354853	114354853	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr1:114354853G>T	ENST00000261441.5	-	1	245	c.182C>A	c.(181-183)gCg>gAg	p.A61E	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	61						nucleus (GO:0005634)		p.A61E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCCGCCACCGCCCGTACTAC	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											50	67	61					1																	114354853		2202	4298	6500	114156376	SO:0001583	missense	54665			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.182C>A	1.37:g.114354853G>T	ENSP00000261441:p.Ala61Glu		114156376	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122492	0.94429	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.63	5.63	0.86233	.	0.000000	0.49305	D	0.000159	T	0.44850	0.1313	N	0.08118	0	0.36304	D	0.857234	D	0.71674	0.998	D	0.79108	0.992	T	0.60239	-0.7302	9	0.87932	D	0	-5.2176	15.1826	0.72972	0.0:0.0:1.0:0.0	.	61	Q5VWQ0	RSBN1_HUMAN	E	61	.	ENSP00000261441:A61E	A	-	2	0	RSBN1	114156376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.369000	0.59511	2.659000	0.90383	0.561000	0.74099	GCG		0.662	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		T	114354853	G	T	114354853	3	4	217	1	0	0	0	0	1	0	0	0	13699	1087	38	3	2254	3	RSBN1	1	114354853	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08	58730159	114354853	134895768	3	12401											
CD84	8832	broad.mit.edu	37	1	160535272	160535272	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr1:160535272C>T	ENST00000311224.4	-	2	376	c.310G>A	c.(310-312)Gca>Aca	p.A104T	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|CD84_ENST00000368054.3_Missense_Mutation_p.A104T|CD84_ENST00000368048.3_Missense_Mutation_p.A104T|CD84_ENST00000368051.3_Missense_Mutation_p.A104T	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	104	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A104T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAGTCTCCTGCGTCTTCCATC	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											334	263	287					1																	160535272		2203	4300	6503	158801896	SO:0001583	missense	8832			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.310G>A	1.37:g.160535272C>T	ENSP00000312367:p.Ala104Thr		158801896	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006642	0.54361	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.25	-0.589	0.11683	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.569999	0.20130	N	0.098604	T	0.11324	0.0276	L	0.42529	1.33	0.09310	N	1	D;D;D;D;D;D	0.71674	0.997;0.997;0.998;0.993;0.996;0.996	P;P;P;B;P;P	0.50490	0.559;0.536;0.642;0.308;0.506;0.506	T	0.23226	-1.0194	10	0.31617	T	0.26	-1.6013	8.0978	0.30840	0.6258:0.2918:0.0:0.0823	.	104;104;104;104;104;104	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	T	104	ENSP00000357033:A104T;ENSP00000357027:A104T;ENSP00000312367:A104T;ENSP00000357030:A104T;ENSP00000353163:A104T;ENSP00000357026:A104T	ENSP00000312367:A104T	A	-	1	0	CD84	158801896	0.001000	0.12720	0.012000	0.15200	0.547000	0.35210	-0.345000	0.07770	-0.180000	0.10637	0.591000	0.81541	GCA		0.468	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		T	160535272	C	T	160535272	3	4	217	1	0	0	0	0	1	0	0	0	3042	768	27	1	755	1	CD84	1	160535272	Missense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08	46180419	160535272	88715349	4	12402											
CCDC104	112942	broad.mit.edu	37	2	55756101	55756101	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr2:55756101G>T	ENST00000349456.4	+	4	518	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	CCDC104_ENST00000403007.3_Missense_Mutation_p.A124S|CCDC104_ENST00000407816.3_Missense_Mutation_p.A124S|CCDC104_ENST00000339012.3_Missense_Mutation_p.A149S|CCDC104_ENST00000406691.3_Missense_Mutation_p.A124S			Q96G28	CFA36_HUMAN		124								p.A124S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCAGCTGCAAGCCATTCGAAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											60	60	60					2																	55756101		2203	4300	6503	55609605	SO:0001583	missense	112942																														ENST00000349456.4:c.370G>T	2.37:g.55756101G>T	ENSP00000295117:p.Ala124Ser		55609605	Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	31	5.072247	0.93950	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	6.17	6.17	0.99709	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.045973	0.85682	D	0.000000	T	0.77405	0.4125	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77907	-0.2412	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	124;149	Q96G28;Q96G28-2	CC104_HUMAN;.	S	149;124;124;124;124	ENSP00000342699:A149S;ENSP00000385400:A124S;ENSP00000295117:A124S;ENSP00000385376:A124S;ENSP00000385972:A124S	ENSP00000342699:A149S	A	+	1	0	CCDC104	55609605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.767000	0.85331	2.941000	0.99782	0.655000	0.94253	GCC		0.338	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			T	55756101	G	T	55756101	3	4	217	1	0	0	0	0	1	0	0	0	2739	971	34	3	384	3	CCDC104	2	55756101	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08		55756101	187443272	5	12403											
UXS1	80146	broad.mit.edu	37	2	106761805	106761805	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr2:106761805C>G	ENST00000409501.3	-	6	355	c.298G>C	c.(298-300)Gtg>Ctg	p.V100L	UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000540130.1_Missense_Mutation_p.V43L|UXS1_ENST00000283148.7_Missense_Mutation_p.V105L			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	100					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.V105L(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGGGAGCCCACGAACCCTGCG	0.552																																																2	Substitution - Missense(2)	ovary(2)	2											82	81	81					2																	106761805		2100	4229	6329	106128237	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.298G>C	2.37:g.106761805C>G	ENSP00000387019:p.Val100Leu		106128237	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219112	0.79464	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	N	0.03891	-0.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89228	0.3575	10	0.13470	T	0.59	-9.4627	20.1381	0.98040	0.0:1.0:0.0:0.0	.	105;100	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	L	105;43;100;43	ENSP00000283148:V105L;ENSP00000438265:V43L;ENSP00000387019:V100L;ENSP00000399316:V43L	ENSP00000283148:V105L	V	-	1	0	UXS1	106128237	1.000000	0.71417	0.995000	0.50966	0.802000	0.45316	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	GTG		0.552	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		G	106761805	C	G	106761805	3	3	217	1	0	0	0	0	1	0	0	0	17109	536	19	3	1004	3	UXS1	2	106761805	Missense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08	51005704	106761805	136437568	6	12404											
RBMS1	5937	broad.mit.edu	37	2	161349853	161349853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr2:161349853G>A	ENST00000348849.3	-	1	452	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Nonsense_Mutation_p.Q8*	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	8					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.Q8*(1)	PLA2R1/RBMS1(2)								GGGTACATCTGCTGTTTCCAC	0.622																																																1	Substitution - Nonsense(1)	ovary(1)	2											72	60	64					2																	161349853		2203	4300	6503	161058099	SO:0001587	stop_gained	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"RNA binding motif (RRM) containing"	9907	protein-coding gene	gene with protein product	"suppressor of cdc 2 (cdc13) with RNA binding motif 2", "c-myc gene single strand binding protein 2"	602310	"chromosome 2 open reading frame 12"	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.22C>T	2.37:g.161349853G>A	ENSP00000294904:p.Gln8*		161058099	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Nonsense_Mutation	SNP	ENST00000348849.3	37	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	38	6.930117	0.97944	.	.	ENSG00000153250	ENST00000348849;ENST00000392753	.	.	.	4.06	4.06	0.47325	.	0.090520	0.43919	D	0.000507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	16.5789	0.84708	0.0:0.0:1.0:0.0	.	.	.	.	X	8	.	ENSP00000294904:Q8X	Q	-	1	0	RBMS1	161058099	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.806000	0.75195	1.974000	0.57490	0.305000	0.20034	CAG		0.622	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		A	161349853	G	A	161349853	4	1	217	1	0	0	0	0	0	1	0	0	13151	1328	46	2	1250	2	RBMS1	2	161349853	Nonsense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08	54588048	161349853	81849520	7	12405											
SP100	6672	broad.mit.edu	37	2	231368939	231368939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr2:231368939C>T	ENST00000264052.5	+	21	2159	c.1804C>T	c.(1804-1806)Caa>Taa	p.Q602*	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000340126.4_Nonsense_Mutation_p.Q602*|SP100_ENST00000409112.1_Nonsense_Mutation_p.Q602*	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	602	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q602*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAATTTTAAACAATCTGAACT	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	2											134	141	139					2																	231368939		2203	4300	6503	231077183	SO:0001587	stop_gained	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1804C>T	2.37:g.231368939C>T	ENSP00000264052:p.Gln602*		231077183	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Nonsense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	38	6.923156	0.97936	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	.	.	.	4.54	-9.07	0.00724	.	10.162400	0.00166	N	0.000002	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	1.5879	0.02648	0.2531:0.1033:0.3445:0.2992	.	.	.	.	X	602;602;602;85	.	ENSP00000264052:Q602X	Q	+	1	0	SP100	231077183	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.070000	0.00619	-3.107000	0.00243	-0.136000	0.14681	CAA		0.403	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		T	231368939	C	T	231368939	4	4	217	1	0	0	0	0	0	1	0	0	14963	479	17	2	1886	2	SP100	2	231368939	Nonsense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08	70019086	231368939	11830434	8	12406											
SCN5A	6331	broad.mit.edu	37	3	38646297	38646297	+	Missense_Mutation	SNP	G	G	A	rs144511230	byFrequency	TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr3:38646297G>A	ENST00000333535.4	-	11	1590	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	SCN5A_ENST00000414099.2_Missense_Mutation_p.R481W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R481W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R481W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R481W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R481W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R481W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R481W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R481W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R481W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	481			R -> W (found in patients with atrial fibrillation). {ECO:0000269|PubMed:18378609}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R481W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGACATCCGTTTTCTCCTC	0.547													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		20820	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3						G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	39,3897		0,39,1929	109	108	109		1441,1441,1441,1441,1441,1441	3.3	0.9	3	dbSNP_134	109	0,8270		0,0,4135	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	101,101,101,101,101,101	0,39,6064	AA,AG,GG		0.0,0.9909,0.3195	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	481/2016,481/2017,481/1999,481/1984,481/1963,481/2017	38646297	39,12167	1968	4135	6103	38621301	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1441C>T	3.37:g.38646297G>A	ENSP00000328968:p.Arg481Trp		38621301	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	15.65	2.896784	0.52121	0.009909	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.33	3.29	0.37713	Domain of unknown function DUF3451 (1);	0.062603	0.64402	D	0.000009	D	0.89938	0.6860	L	0.49571	1.57	0.27520	N	0.951418	B;D;B;B;B;D;B	0.76494	0.009;0.998;0.017;0.022;0.022;0.999;0.017	B;D;B;B;B;D;B	0.64776	0.005;0.914;0.007;0.013;0.013;0.929;0.007	D	0.84788	0.0777	10	0.72032	D	0.01	.	11.6772	0.51436	0.0:0.102:0.7186:0.1794	.	481;481;481;481;481;481;481	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	481	ENSP00000398962:R481W;ENSP00000398266:R481W;ENSP00000410257:R481W;ENSP00000388797:R481W;ENSP00000397915:R481W;ENSP00000416634:R481W;ENSP00000328968:R481W;ENSP00000399524:R481W;ENSP00000403355:R481W;ENSP00000413996:R481W	ENSP00000328968:R481W	R	-	1	2	SCN5A	38621301	0.940000	0.31905	0.902000	0.35471	0.670000	0.39368	2.016000	0.40971	1.218000	0.43458	0.655000	0.94253	CGG		0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38646297	G	A	38646297	3	1	217	1	0	0	0	0	1	0	0	0	13925	1144	40	1	4681	1	SCN5A	3	38646297	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08		38646297	159376133	9	12407											
CCDC37	348807	broad.mit.edu	37	3	126154467	126154467	+	Missense_Mutation	SNP	C	C	T	rs373742550		TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr3:126154467C>T	ENST00000352312.1	+	16	1793	c.1694C>T	c.(1693-1695)gCg>gTg	p.A565V	CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000393425.1_Missense_Mutation_p.A566V|CCDC37_ENST00000505024.1_Missense_Mutation_p.A566V	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	565								p.A565V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CGGGCCCGGGCGCGCGCCCAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	3						C	VAL/ALA	0,4406		0,0,2203	29	36	33		1694	4.4	0.5	3		33	2,8598	2.2+/-6.3	0,2,4298	no	missense	CCDC37	NM_182628.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	565/612	126154467	2,13004	2203	4300	6503	127637157	SO:0001583	missense	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1694C>T	3.37:g.126154467C>T	ENSP00000344749:p.Ala565Val		127637157	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321905	0.41096	0.0	2.33E-4	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32753	1.44;1.44;1.44	4.4	4.4	0.53042	.	0.190562	0.45361	D	0.000374	T	0.50154	0.1599	M	0.72894	2.215	0.32964	D	0.521375	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.985	T	0.60737	-0.7204	10	0.38643	T	0.18	-22.2669	10.1732	0.42922	0.1992:0.8008:0.0:0.0	.	566;565	Q494V2-2;Q494V2	.;CCD37_HUMAN	V	565;566;566	ENSP00000344749:A565V;ENSP00000377076:A566V;ENSP00000423046:A566V	ENSP00000344749:A565V	A	+	2	0	CCDC37	127637157	0.988000	0.35896	0.463000	0.27130	0.026000	0.11368	2.817000	0.48034	2.162000	0.67917	0.491000	0.48974	GCG		0.602	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		T	126154467	C	T	126154467	3	4	217	1	0	0	0	0	1	0	0	0	2809	768	27	1	1752	1	CCDC37	3	126154467	Missense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08	87508170	126154467	71867963	10	12408											
USP13	8975	broad.mit.edu	37	3	179478937	179478937	+	Silent	SNP	C	C	G			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr3:179478937C>G	ENST00000263966.3	+	17	2457	c.1986C>G	c.(1984-1986)gcC>gcG	p.A662A	USP13_ENST00000496897.1_Silent_p.A597A	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	662	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.|USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A662A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGCAGCTGGCCGAGATGGGTT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	3											140	131	134					3																	179478937		2203	4300	6503	180961631	SO:0001819	synonymous_variant	8975			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1986C>G	3.37:g.179478937C>G			180961631	A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	CCDS3235.1																																																																																				0.498	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			G	179478937	C	G	179478937	2	3	217	1	0	0	0	0	0	0	0	1	17044	639	23	3		3	USP13	3	179478937	Silent	SNP	C	TCGA-24-1419-01A-01W-0545-08	53324470	179478937	18543493	11	12409											
B3GNT5	84002	broad.mit.edu	37	3	182988300	182988300	+	Nonsense_Mutation	SNP	C	C	A	rs543575415		TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr3:182988300C>A	ENST00000326505.3	+	2	1244	c.714C>A	c.(712-714)taC>taA	p.Y238*	B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.Y238*|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.Y238*|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	238					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)	p.Y238*(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCAAATACTACGTGTCCTATG	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	3											108	99	102					3																	182988300		2203	4300	6503	184470994	SO:0001587	stop_gained	84002			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"Beta 3-glycosyltransferases"	15684	protein-coding gene	gene with protein product	"lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.714C>A	3.37:g.182988300C>A	ENSP00000316173:p.Tyr238*		184470994	D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Nonsense_Mutation	SNP	ENST00000326505.3	37	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	C	38	6.793051	0.97841	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	.	.	.	5.91	-6.0	0.02206	.	0.130552	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.536	0.67960	0.0:0.4958:0.0:0.5042	.	.	.	.	X	238	.	ENSP00000316173:Y238X	Y	+	3	2	B3GNT5	184470994	0.438000	0.25602	0.909000	0.35828	0.232000	0.25224	-0.278000	0.08490	-0.987000	0.03494	-1.969000	0.00466	TAC		0.458	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		A	182988300	C	A	182988300	4	1	217	1	0	0	0	0	0	1	0	0	1260	547	19	3	716	3	B3GNT5	3	182988300	Nonsense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08	3509363	182988300	15034130	12	12410											
PDLIM5	10611	broad.mit.edu	37	4	95578684	95578684	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr4:95578684C>A	ENST00000317968.4	+	11	1707	c.1571C>A	c.(1570-1572)cCc>cAc	p.P524H	PDLIM5_ENST00000437932.1_Missense_Mutation_p.P415H|PDLIM5_ENST00000514743.1_Missense_Mutation_p.P553H|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.P402H	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	524	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.P524H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GATGGTGAACCCTACTGTGAG	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											139	123	128					4																	95578684		2203	4300	6503	95797707	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1571C>A	4.37:g.95578684C>A	ENSP00000321746:p.Pro524His		95797707	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959391	0.92726	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.87	5.87	0.94306	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	M	0.89214	3.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.95049	0.8185	10	0.87932	D	0	.	20.1935	0.98237	0.0:1.0:0.0:0.0	.	421;553;524;415	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	H	415;524;421;402;553	ENSP00000398469:P415H;ENSP00000321746:P524H;ENSP00000424297:P421H;ENSP00000442187:P402H;ENSP00000424360:P553H	ENSP00000321746:P524H	P	+	2	0	PDLIM5	95797707	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	7.757000	0.85209	2.779000	0.95612	0.591000	0.81541	CCC		0.378	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			A	95578684	C	A	95578684	3	1	217	1	0	0	0	0	1	0	0	0	11683	623	22	3	1769	3	PDLIM5	4	95578684	Missense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08		95578684	95575592	13	12411											
ADAM29	11086	broad.mit.edu	37	4	175896854	175896854	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr4:175896854G>A	ENST00000359240.3	+	5	848	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	ADAM29_ENST00000445694.1_Missense_Mutation_p.G60S|ADAM29_ENST00000404450.4_Missense_Mutation_p.G60S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.G60S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	60					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G60S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCCCTTTGGAGGCCAGAAACA	0.507																																					Ovarian(140;1727 1835 21805 25838 41440)											1	Substitution - Missense(1)	ovary(1)	4											50	47	48					4																	175896854		2203	4300	6503	176133429	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.178G>A	4.37:g.175896854G>A	ENSP00000352177:p.Gly60Ser		176133429	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783947	0.31593	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000404450;ENST00000514159	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	3.77	2.89	0.33648	Peptidase M12B, propeptide (1);	0.000000	0.36815	U	0.002391	T	0.45518	0.1346	M	0.92604	3.325	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.36504	-0.9745	9	.	.	.	.	8.4739	0.33001	0.0:0.0:0.7682:0.2318	.	60	Q9UKF5	ADA29_HUMAN	S	60	ENSP00000352177:G60S;ENSP00000414544:G60S;ENSP00000427674:G60S;ENSP00000384229:G60S;ENSP00000423517:G60S	.	G	+	1	0	ADAM29	176133429	0.997000	0.39634	0.151000	0.22473	0.008000	0.06430	3.610000	0.54125	1.114000	0.41781	0.637000	0.83480	GGC		0.507	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175896854	G	A	175896854	3	1	217	1	0	0	0	0	1	0	0	0	247	1000	35	2	180	2	ADAM29	4	175896854	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08	80318170	175896854	15257422	14	12412											
LATS1	9113	broad.mit.edu	37	6	150001362	150001362	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr6:150001362C>T	ENST00000543571.1	-	5	2789	c.2242G>A	c.(2242-2244)Gct>Act	p.A748T	LATS1_ENST00000253339.5_Missense_Mutation_p.A748T|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.A748T(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTAACATGAGCGACTTGATTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											122	117	119					6																	150001362		2203	4300	6503	150043055	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2242G>A	6.37:g.150001362C>T	ENSP00000437550:p.Ala748Thr		150043055		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153759	0.94645	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.64618	-0.11;-0.11	5.5	5.5	0.81552	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	0.56097	D	0.000029	T	0.53818	0.1820	N	0.17082	0.46	0.80722	D	1	D	0.56521	0.976	P	0.58077	0.832	T	0.51919	-0.8644	9	.	.	.	.	19.7653	0.96337	0.0:1.0:0.0:0.0	.	748	O95835	LATS1_HUMAN	T	748	ENSP00000437550:A748T;ENSP00000253339:A748T	.	A	-	1	0	LATS1	150043055	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.445000	0.80570	2.730000	0.93505	0.563000	0.77884	GCT		0.368	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		T	150001362	C	T	150001362	3	4	217	1	0	0	0	0	1	0	0	0	8646	768	27	1	1166	1	LATS1	6	150001362	Missense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08		150001362	21113705	15	12413											
LAMB1	3912	broad.mit.edu	37	7	107570040	107570040	+	Missense_Mutation	SNP	A	A	G	rs199646967		TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr7:107570040A>G	ENST00000222399.6	-	30	4792	c.4562T>C	c.(4561-4563)aTt>aCt	p.I1521T	LAMB1_ENST00000393561.1_Missense_Mutation_p.I1545T|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1521	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.I1521T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AACTGCTTCAATGCTGTCCAA	0.408													A|||	1	0.000199681	0	0	5008	,	,		18515	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	7											120	102	108					7																	107570040		2203	4300	6503	107357276	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4562T>C	7.37:g.107570040A>G	ENSP00000222399:p.Ile1521Thr		107357276	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659619	0.88154	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.44083	0.93;0.93	5.52	5.52	0.82312	.	.	.	.	.	T	0.65491	0.2696	M	0.78456	2.415	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.957	T	0.69826	-0.5040	9	0.72032	D	0.01	.	15.8169	0.78608	1.0:0.0:0.0:0.0	.	1521;1545	P07942;G3XAI2	LAMB1_HUMAN;.	T	1545;1521	ENSP00000377191:I1545T;ENSP00000222399:I1521T	ENSP00000222399:I1521T	I	-	2	0	LAMB1	107357276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.757000	0.91657	2.311000	0.77944	0.528000	0.53228	ATT		0.408	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		G	107570040	A	G	107570040	3	3	217	1	0	0	0	0	1	0	0	0	8610	101	4	4	818	4	LAMB1	7	107570040	Missense_Mutation	SNP	A	TCGA-24-1419-01A-01W-0545-08		107570040	51568623	16	12414											
KIAA1797	54914	broad.mit.edu	37	9	20885120	20885120	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr9:20885120T>A	ENST00000380249.1	+	23	2880	c.2516T>A	c.(2515-2517)tTt>tAt	p.F839Y	FOCAD_ENST00000605086.1_Missense_Mutation_p.F275Y|FOCAD_ENST00000338382.6_Missense_Mutation_p.F839Y	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	839						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.F839Y(1)									GGTATGTTATTTTGCTATGAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	9											99	90	93					9																	20885120		2203	4300	6503	20875120	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2516T>A	9.37:g.20885120T>A	ENSP00000369599:p.Phe839Tyr		20875120	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143552	0.57044	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08984	3.03;3.03	5.16	5.16	0.70880	Armadillo-type fold (1);	0.067669	0.64402	D	0.000012	T	0.10337	0.0253	L	0.40543	1.245	0.32096	N	0.591238	B	0.31153	0.31	B	0.34138	0.176	T	0.04360	-1.0957	10	0.44086	T	0.13	-0.3743	15.3017	0.73958	0.0:0.0:0.0:1.0	.	839	Q5VW36	K1797_HUMAN	Y	839	ENSP00000369599:F839Y;ENSP00000344307:F839Y	ENSP00000344307:F839Y	F	+	2	0	KIAA1797	20875120	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.363000	0.66104	2.074000	0.62210	0.454000	0.30748	TTT		0.348	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		A	20885120	T	A	20885120	3	1	217	1	0	0	0	0	1	0	0	0	8258	1841	64	5	2594	5	KIAA1797	9	20885120	Missense_Mutation	SNP	T	TCGA-24-1419-01A-01W-0545-08		20885120	120328311	17	12415											
MOBKL2B	79817	broad.mit.edu	37	9	27455162	27455162	+	Silent	SNP	G	G	A			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr9:27455162G>A	ENST00000262244.5	-	2	811	c.387C>T	c.(385-387)atC>atT	p.I129I		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	129							metal ion binding (GO:0046872)	p.I129I(1)									CCTCGTTGTTGATCTGAACCT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	9											107	98	101					9																	27455162		2203	4300	6503	27445162	SO:0001819	synonymous_variant	79817			AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"MOB kinase activators"	23825	protein-coding gene	gene with protein product	"monopolar spindle 1 binding, MOB1, domain containing"		"MOB1, Mps One Binder kinase activator-like 2B (yeast)", "chromosome 9 open reading frame 35"	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.387C>T	9.37:g.27455162G>A			27445162	Q8NEB4|Q9H8V4	Silent	SNP	ENST00000262244.5	37	CCDS6520.1																																																																																				0.433	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		A	27455162	G	A	27455162	2	1	217	1	0	0	0	0	0	0	0	1	9685	1280	45	2		2	MOBKL2B	9	27455162	Silent	SNP	G	TCGA-24-1419-01A-01W-0545-08	6570042	27455162	113758269	18	12416											
PCSK5	5125	broad.mit.edu	37	9	78784684	78784684	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr9:78784684G>C	ENST00000545128.1	+	13	2222	c.1684G>C	c.(1684-1686)Gaa>Caa	p.E562Q	PCSK5_ENST00000376767.3_Missense_Mutation_p.E562Q|PCSK5_ENST00000376752.4_Missense_Mutation_p.E562Q	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	562					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.E562Q(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGCTGGGGAGAAAGAGCTGC	0.418																																																2	Substitution - Missense(2)	ovary(2)	9											155	150	152					9																	78784684		2203	4300	6503	77974504	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1684G>C	9.37:g.78784684G>C	ENSP00000446280:p.Glu562Gln		77974504	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897763	0.91962	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.90459	0.7012	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.92157	0.5733	10	0.87932	D	0	-28.4367	20.0175	0.97485	0.0:0.0:1.0:0.0	.	562;562	Q92824-2;B1AMG5	.;.	Q	562;265;562;562;562;235	ENSP00000446280:E562Q;ENSP00000365958:E562Q;ENSP00000365943:E562Q;ENSP00000411654:E235Q	ENSP00000365943:E562Q	E	+	1	0	PCSK5	77974504	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.355000	0.97087	2.730000	0.93505	0.650000	0.86243	GAA		0.418	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	78784684	G	C	78784684	3	2	217	1	0	0	0	0	1	0	0	0	11603	943	33	3	1734	3	PCSK5	9	78784684	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08	51329522	78784684	62428747	19	12417											
ROR2	4920	broad.mit.edu	37	9	94487038	94487038	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr9:94487038C>A	ENST00000375708.3	-	9	1936	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.D440Y	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	580	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.D580Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACCGTGCGGTCATCATCGGTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	9											55	52	53					9																	94487038		2203	4300	6503	93526859	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1738G>T	9.37:g.94487038C>A	ENSP00000364860:p.Asp580Tyr		93526859	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905053	0.52333	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.89050	-2.46;-2.46	4.86	4.86	0.63082	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.157511	0.29093	N	0.013180	D	0.92951	0.7757	L	0.53671	1.685	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.70016	0.967;0.967	D	0.93651	0.6973	10	0.87932	D	0	.	18.2087	0.89863	0.0:1.0:0.0:0.0	.	580;440	Q01974;B1APY4	ROR2_HUMAN;.	Y	440;580	ENSP00000364867:D440Y;ENSP00000364860:D580Y	ENSP00000364860:D580Y	D	-	1	0	ROR2	93526859	1.000000	0.71417	0.990000	0.47175	0.046000	0.14306	7.549000	0.82163	2.526000	0.85167	0.561000	0.74099	GAC		0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			A	94487038	C	A	94487038	3	1	217	1	0	0	0	0	1	0	0	0	13530	826	29	3	1097	3	ROR2	9	94487038	Missense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08	15702354	94487038	46726393	20	12418											
OR2K2	26248	broad.mit.edu	37	9	114089965	114089965	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr9:114089965T>A	ENST00000374428.1	-	1	835	c.836A>T	c.(835-837)tAt>tTt	p.Y279F	OR2K2_ENST00000302681.1_Missense_Mutation_p.Y250F			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y250F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGCCCCATAATACAAAATCAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	9											113	112	113					9																	114089965		2203	4300	6503	113129786	SO:0001583	missense	26248			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.836A>T	9.37:g.114089965T>A	ENSP00000363550:p.Tyr279Phe		113129786	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37		.	.	.	.	.	.	.	.	.	.	T	0.023	-1.398695	0.01175	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00014	9.18;9.18	4.55	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.216160	0.23319	U	0.049480	T	0.00039	0.0001	N	0.00116	-2.08	0.28228	N	0.926226	B	0.12013	0.005	B	0.16289	0.015	T	0.31336	-0.9947	10	0.02654	T	1	.	7.9835	0.30198	0.4879:0.0:0.0:0.5121	.	279	Q8NGT1	OR2K2_HUMAN	F	250;279	ENSP00000305055:Y250F;ENSP00000363550:Y279F	ENSP00000305055:Y250F	Y	-	2	0	OR2K2	113129786	0.001000	0.12720	0.914000	0.36105	0.695000	0.40330	-0.192000	0.09587	0.308000	0.22923	0.482000	0.46254	TAT		0.423	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		A	114089965	T	A	114089965	3	1	217	1	0	0	0	0	1	0	0	0	11005	1406	49	5	204	5	OR2K2	9	114089965	Missense_Mutation	SNP	T	TCGA-24-1419-01A-01W-0545-08	19602927	114089965	27123466	21	12419											
C12orf40	283461	broad.mit.edu	37	12	40044120	40044120	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr12:40044120C>T	ENST00000324616.5	+	7	804	c.650C>T	c.(649-651)aCt>aTt	p.T217I	C12orf40_ENST00000398716.1_Missense_Mutation_p.T140I|C12orf40_ENST00000405531.3_Missense_Mutation_p.T217I	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	217								p.T217I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCACATAAAACTACACGATTT	0.318																																																1	Substitution - Missense(1)	ovary(1)	12											76	68	71					12																	40044120		1811	4071	5882	38330387	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.650C>T	12.37:g.40044120C>T	ENSP00000317671:p.Thr217Ile		38330387	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	2.263	-0.368833	0.05069	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45668	0.89;0.9	3.53	3.53	0.40419	.	0.544584	0.15415	N	0.263534	T	0.41050	0.1142	L	0.27053	0.805	0.09310	N	1	P	0.51351	0.944	P	0.52957	0.714	T	0.18053	-1.0349	10	0.66056	D	0.02	.	10.8778	0.46921	0.0:1.0:0.0:0.0	.	217	Q86WS4	CL040_HUMAN	I	217;140;217	ENSP00000383897:T217I;ENSP00000317671:T217I	ENSP00000317671:T217I	T	+	2	0	C12orf40	38330387	0.000000	0.05858	0.004000	0.12327	0.049000	0.14656	-0.487000	0.06505	2.279000	0.76181	0.650000	0.86243	ACT		0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		T	40044120	C	T	40044120	3	4	217	1	0	0	0	0	1	0	0	0	1686	565	20	2	676	2	C12orf40	12	40044120	Missense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08		40044120	93807775	22	12420											
PLEKHG7	440107	broad.mit.edu	37	12	93147942	93147942	+	Missense_Mutation	SNP	G	G	A	rs199587628	byFrequency	TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr12:93147942G>A	ENST00000344636.3	+	6	576	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	131	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R131Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AGGCTCACTCGATATCCGTTG	0.498													G|||	2	0.000399361	0	0	5008	,	,		21795	0.002		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12											105	92	96					12																	93147942		2203	4300	6503	91672073	SO:0001583	missense	440107			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.392G>A	12.37:g.93147942G>A	ENSP00000344961:p.Arg131Gln		91672073	B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064362	0.93898	.	.	ENSG00000187510	ENST00000344636	T	0.75477	-0.94	5.32	5.32	0.75619	Dbl homology (DH) domain (4);	0.063407	0.64402	D	0.000005	D	0.86151	0.5864	M	0.79805	2.47	0.50313	D	0.999863	D	0.71674	0.998	P	0.62813	0.907	D	0.87920	0.2703	10	0.72032	D	0.01	-1.7726	18.5625	0.91105	0.0:0.0:1.0:0.0	.	131	Q6ZR37	PKHG7_HUMAN	Q	131	ENSP00000344961:R131Q	ENSP00000344961:R131Q	R	+	2	0	PLEKHG7	91672073	0.995000	0.38212	0.539000	0.28077	0.866000	0.49608	5.881000	0.69706	2.488000	0.83962	0.491000	0.48974	CGA		0.498	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		A	93147942	G	A	93147942	3	1	217	1	0	0	0	0	1	0	0	0	12075	1058	37	1	410	1	PLEKHG7	12	93147942	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08	53103822	93147942	40703953	23	12421											
UBE3B	89910	broad.mit.edu	37	12	109968395	109968395	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr12:109968395G>T	ENST00000342494.3	+	26	3449	c.2854G>T	c.(2854-2856)Gtc>Ttc	p.V952F	UBE3B_ENST00000535089.1_Missense_Mutation_p.V39F|UBE3B_ENST00000434735.2_Missense_Mutation_p.V952F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	952	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V952F(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AAGTCACAGAGTCATCATCTG	0.473																																																1	Substitution - Missense(1)	ovary(1)	12											160	144	149					12																	109968395		2203	4300	6503	108452778	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2854G>T	12.37:g.109968395G>T	ENSP00000340596:p.Val952Phe		108452778	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118477	0.94385	.	.	ENSG00000151148	ENST00000434735;ENST00000342494;ENST00000538070;ENST00000535089	T;T;T	0.58652	0.32;0.32;0.32	5.56	4.62	0.57501	HECT (4);	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	M	0.81112	2.525	0.80722	D	1	P;D	0.76494	0.889;0.999	P;D	0.83275	0.476;0.996	T	0.79952	-0.1586	10	0.87932	D	0	-35.8816	14.9945	0.71421	0.0:0.1428:0.8572:0.0	.	247;952	F5H2J2;Q7Z3V4	.;UBE3B_HUMAN	F	952;952;247;39	ENSP00000391529:V952F;ENSP00000340596:V952F;ENSP00000442276:V39F	ENSP00000340596:V952F	V	+	1	0	UBE3B	108452778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.626000	0.88956	0.655000	0.94253	GTC		0.473	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		T	109968395	G	T	109968395	3	4	217	1	0	0	0	0	1	0	0	0	16880	1029	36	3	2948	3	UBE3B	12	109968395	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08	16820453	109968395	23883500	24	12422											
ZNF268	10795	broad.mit.edu	37	12	133764548	133764548	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr12:133764548C>G	ENST00000536435.2	+	3	454	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V	ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000228289.5_Missense_Mutation_p.L42V|ZNF268_ENST00000541009.2_Missense_Mutation_p.L42V|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.L207V|ZNF268_ENST00000542711.2_Intron|ZNF268_ENST00000539248.2_Missense_Mutation_p.L42V|ZNF268_ENST00000542986.2_Missense_Mutation_p.L42V|ZNF268_ENST00000416488.1_Missense_Mutation_p.L207V|ZNF268_ENST00000536899.2_Intron|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000541211.2_Missense_Mutation_p.L42V	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	42					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L42V(1)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GACTCCTGGTCTGCAACCTCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	12											42	43	43					12																	133764548		1866	4116	5982	132274621	SO:0001583	missense	10795			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"Zinc fingers, C2H2-type", "-"	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.124C>G	12.37:g.133764548C>G	ENSP00000444412:p.Leu42Val		132274621	Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	C	7.748	0.702682	0.15172	.	.	ENSG00000090612	ENST00000416488;ENST00000541009;ENST00000536435;ENST00000228289;ENST00000541211;ENST00000541975	T;T;T;T	0.07800	5.78;5.37;3.16;3.16	3.27	1.4	0.22301	.	.	.	.	.	T	0.04407	0.0121	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.18871	0.023	T	0.46442	-0.9191	8	.	.	.	.	5.4978	0.16811	0.0:0.7329:0.0:0.2671	.	42	Q14587	ZN268_HUMAN	V	207;42;42;42;42;42	ENSP00000409295:L207V;ENSP00000439539:L42V;ENSP00000444412:L42V;ENSP00000228289:L42V	.	L	+	1	2	ZNF268	132274621	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.303000	0.19210	0.239000	0.21243	0.561000	0.74099	CTG		0.512	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		G	133764548	C	G	133764548	3	3	217	1	0	0	0	0	1	0	0	0	17807	912	32	3	130	3	ZNF268	12	133764548	Missense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08	23796153	133764548	87347	25	12423											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	217	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-24-1419-01A-01W-0545-08		7577538	73617672	26	12424											
PNKP	11284	broad.mit.edu	37	19	50365864	50365864	+	Splice_Site	SNP	G	G	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chr19:50365864G>T	ENST00000322344.3	-	10	976	c.867C>A	c.(865-867)gaC>gaA	p.D289E	PNKP_ENST00000596014.1_Splice_Site_p.D289E|PNKP_ENST00000600573.1_Splice_Site_p.D289E|PNKP_ENST00000600910.1_Splice_Site_p.D289E|AC018766.4_ENST00000596624.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	289	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.D289E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GTCCGGCTGCGTCTGGAACAC	0.701								Other BER factors																																								1	Substitution - Missense(1)	ovary(1)	19											30	32	32					19																	50365864		2203	4300	6503	55057676	SO:0001630	splice_region_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.866-1C>A	19.37:g.50365864G>T			55057676	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489902	0.84962	.	.	ENSG00000039650	ENST00000322344	D	0.82526	-1.62	5.15	-9.25	0.00666	HAD-like domain (2);Polynucleotide kinase 3 phosphatase, central region (1);	0.000000	0.64402	D	0.000001	D	0.92770	0.7701	H	0.98833	4.345	0.53005	D	0.999968	D;D	0.71674	0.998;0.995	D;D	0.72338	0.977;0.977	D	0.93701	0.7015	10	0.87932	D	0	.	16.0908	0.81090	0.8051:0.0:0.1949:0.0	.	250;289	Q9BUL2;Q96T60	.;PNKP_HUMAN	E	289	ENSP00000323511:D289E	ENSP00000323511:D289E	D	-	3	2	PNKP	55057676	0.197000	0.23362	0.482000	0.27366	0.234000	0.25298	-0.568000	0.05909	-1.760000	0.01312	-1.036000	0.02392	GAC		0.701	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	Missense_Mutation	T	50365864	G	T	50365864	5	4	217	1	0	0	0	0	0	0	1	0	12147	1159	40	3	730	3	PNKP	19	50365864	Splice_Site	SNP	G	TCGA-24-1419-01A-01W-0545-08		50365864	8763119	27	12425											
DOCK11	139818	broad.mit.edu	37	X	117706331	117706331	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chrX:117706331G>C	ENST00000276202.7	+	11	1144	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	Y_RNA_ENST00000384135.1_RNA|DOCK11_ENST00000276204.6_Missense_Mutation_p.E361Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	361					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E361Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCCATTTGAAGAAAAATGCAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	X											105	98	101					X																	117706331		2203	4300	6503	117590359	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1081G>C	X.37:g.117706331G>C	ENSP00000276202:p.Glu361Gln		117590359	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436264	0.83885	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.58210	0.35;0.35	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.972;0.999	T	0.80935	-0.1160	10	0.87932	D	0	-13.7289	18.2895	0.90124	0.0:0.0:1.0:0.0	.	361;361	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	361	ENSP00000276204:E361Q;ENSP00000276202:E361Q	ENSP00000276202:E361Q	E	+	1	0	DOCK11	117590359	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.282000	0.95840	2.358000	0.79984	0.523000	0.50628	GAA		0.333	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		C	117706331	G	C	117706331	3	2	217	1	0	0	0	0	1	0	0	0	4686	943	33	3	1123	3	DOCK11	23	117706331	Missense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08		117706331	37564229	28	12426											
DDX26B	203522	broad.mit.edu	37	X	134706755	134706755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chrX:134706755G>T	ENST00000370752.4	+	11	1637	c.1303G>T	c.(1303-1305)Gaa>Taa	p.E435*	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	435								p.E435*(1)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACTAGAGTCAGAACGAATACT	0.338																																																1	Substitution - Nonsense(1)	ovary(1)	X											40	36	38					X																	134706755		2203	4300	6503	134534421	SO:0001587	stop_gained	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1303G>T	X.37:g.134706755G>T	ENSP00000359788:p.Glu435*		134534421	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Nonsense_Mutation	SNP	ENST00000370752.4	37	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	41	8.930422	0.99006	.	.	ENSG00000165359	ENST00000370752	.	.	.	5.11	5.11	0.69529	.	0.149691	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-9.0064	16.7677	0.85528	0.0:0.0:1.0:0.0	.	.	.	.	X	435	.	ENSP00000359788:E435X	E	+	1	0	DDX26B	134534421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.251000	0.74343	0.594000	0.82650	GAA		0.338	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		T	134706755	G	T	134706755	4	4	217	1	0	0	0	0	0	1	0	0	4353	943	33	3	1345	3	DDX26B	23	134706755	Nonsense_Mutation	SNP	G	TCGA-24-1419-01A-01W-0545-08	17000424	134706755	20563805	29	12427											
SPANXN2	494119	broad.mit.edu	37	X	142795567	142795567	+	Silent	SNP	G	G	T			TCGA-24-1419-01A-01W-0545-08	TCGA-24-1419-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99b7aaae-c920-462a-8c7d-b54e05aae822	7d51ed6c-bfa6-40ea-9e75-ec325d5a979f	g.chrX:142795567G>T	ENST00000370498.1	-	2	864	c.111C>A	c.(109-111)ccC>ccA	p.P37P		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	37								p.P37P(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCTGTTTGGGGGCTAAGA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	X											117	102	107					X																	142795567		2203	4300	6503	142623233	SO:0001819	synonymous_variant	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.111C>A	X.37:g.142795567G>T			142623233	Q0ZNM2	Silent	SNP	ENST00000370498.1	37	CCDS35419.1																																																																																				0.398	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		T	142795567	G	T	142795567	2	4	217	1	0	0	0	0	0	0	0	1	14994	1335	47	3		3	SPANXN2	23	142795567	Silent	SNP	G	TCGA-24-1419-01A-01W-0545-08	8088812	142795567	12474993	30	12428											
ZMYM4	9202	broad.mit.edu	37	1	35853091	35853091	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr1:35853091G>A	ENST00000314607.6	+	13	2229	c.2149G>A	c.(2149-2151)Gat>Aat	p.D717N	ZMYM4_ENST00000373297.2_Missense_Mutation_p.D628N	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	717					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D717N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAATTGTTCTGATGAATATAA	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											66	73	70					1																	35853091		2203	4300	6503	35625678	SO:0001583	missense	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2149G>A	1.37:g.35853091G>A	ENSP00000322915:p.Asp717Asn		35625678	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691074	0.88735	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.25579	1.79;1.89	5.36	5.36	0.76844	TRASH (1);Zinc finger, MYM-type (1);	0.320878	0.32836	N	0.005589	T	0.49201	0.1543	M	0.70275	2.135	0.50632	D	0.99988	D	0.69078	0.997	D	0.67548	0.952	T	0.34129	-0.9841	10	0.26408	T	0.33	-17.0785	18.0677	0.89396	0.0:0.0:1.0:0.0	.	717	Q5VZL5	ZMYM4_HUMAN	N	717;628	ENSP00000322915:D717N;ENSP00000362394:D628N	ENSP00000322915:D717N	D	+	1	0	ZMYM4	35625678	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.189000	0.77747	2.498000	0.84270	0.655000	0.94253	GAT		0.318	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		A	35853091	G	A	35853091	3	1	218	1	0	0	0	0	1	0	0	0	17702	1290	45	2	2199	2	ZMYM4	1	35853091	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08		35853091	213397530	1	12429											
CYP4A11	1579	broad.mit.edu	37	1	47402453	47402453	+	Missense_Mutation	SNP	C	C	G	rs144085677	byFrequency	TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr1:47402453C>G	ENST00000310638.4	-	4	424	c.393G>C	c.(391-393)ttG>ttC	p.L131F	CYP4A11_ENST00000457840.2_Missense_Mutation_p.L27F|CYP4A11_ENST00000371905.1_Missense_Mutation_p.L131F|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L131F|CYP4A11_ENST00000462347.1_Missense_Mutation_p.L131F|CYP4A11_ENST00000496519.1_5'Flank	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	131	Poly-Leu.				arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.L131F(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TCAACAGGAGCAAGCCGTACC	0.532																																																1	Substitution - Missense(1)	ovary(1)	1						C	PHE/LEU	0,4406		0,0,2203	80	63	69		393	3.3	1	1	dbSNP_134	69	5,8595		0,5,4295	no	missense	CYP4A11	NM_000778.3	22	0,5,6498	GG,GC,CC		0.0581,0.0,0.0384	probably-damaging	131/520	47402453	5,13001	2203	4300	6503	47175040	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.393G>C	1.37:g.47402453C>G	ENSP00000311095:p.Leu131Phe		47175040	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	18.80	3.700540	0.68501	0.0	5.81E-4	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.46	3.34	0.38264	.	0.000000	0.64402	D	0.000012	D	0.84028	0.5382	M	0.93150	3.385	0.42372	D	0.99245	D	0.89917	1.0	D	0.97110	1.0	D	0.84500	0.0616	10	0.87932	D	0	.	3.4568	0.07518	0.1438:0.5745:0.1393:0.1424	.	131	Q02928	CP4AB_HUMAN	F	131;131;131;27	ENSP00000311095:L131F;ENSP00000360971:L131F;ENSP00000360972:L131F;ENSP00000406272:L27F	ENSP00000311095:L131F	L	-	3	2	CYP4A11	47175040	0.847000	0.29606	1.000000	0.80357	0.965000	0.64279	-0.055000	0.11807	2.583000	0.87209	0.644000	0.83932	TTG		0.532	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		G	47402453	C	G	47402453	3	3	218	1	0	0	0	0	1	0	0	0	4183	709	25	3	1202	3	CYP4A11	1	47402453	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	11549362	47402453	201848168	2	12430											
USP24	23358	broad.mit.edu	37	1	55603309	55603309	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr1:55603309T>C	ENST00000294383.6	-	28	3079	c.3080A>G	c.(3079-3081)gAa>gGa	p.E1027G	USP24_ENST00000407756.1_Missense_Mutation_p.E867G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1027					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.E944G(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGGATTTGTTCATCAGAAAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											67	66	66					1																	55603309		1849	4101	5950	55375897	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3080A>G	1.37:g.55603309T>C	ENSP00000294383:p.Glu1027Gly		55375897	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620234	0.46736	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.36699	1.24;1.24	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	L	0.38175	1.15	0.58432	D	0.999999	B	0.16166	0.016	B	0.16722	0.016	T	0.07927	-1.0747	10	0.17832	T	0.49	.	15.9568	0.79893	0.0:0.0:0.0:1.0	.	867	B7WPF4	.	G	1027;867	ENSP00000294383:E1027G;ENSP00000385700:E867G	ENSP00000294383:E1027G	E	-	2	0	USP24	55375897	1.000000	0.71417	0.937000	0.37676	0.331000	0.28603	7.698000	0.84413	2.158000	0.67659	0.460000	0.39030	GAA		0.443	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			C	55603309	T	C	55603309	3	2	218	1	0	0	0	0	1	0	0	0	17055	1783	62	4	4946	4	USP24	1	55603309	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08	8200856	55603309	193647312	3	12431											
KANK4	163782	broad.mit.edu	37	1	62740524	62740524	+	Silent	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr1:62740524T>C	ENST00000371153.4	-	3	630	c.252A>G	c.(250-252)gcA>gcG	p.A84A	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	84						cytoplasm (GO:0005737)		p.A84A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGGGCGGGGCTGCAGGGGGGC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	1											76	88	84					1																	62740524		2203	4300	6503	62513112	SO:0001819	synonymous_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.252A>G	1.37:g.62740524T>C			62513112	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	CCDS620.1																																																																																				0.587	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		C	62740524	T	C	62740524	2	2	218	1	0	0	0	0	0	0	0	1	7979	1567	55	4		4	KANK4	1	62740524	Silent	SNP	T	TCGA-24-1422-01A-01W-0545-08	7137215	62740524	186510097	4	12432											
AP4B1	10717	broad.mit.edu	37	1	114438635	114438635	+	Silent	SNP	C	C	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr1:114438635C>A	ENST00000369569.1	-	9	1816	c.1536G>T	c.(1534-1536)cgG>cgT	p.R512R	AP4B1_ENST00000256658.4_Silent_p.R512R|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.R344R|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	512					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R512R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCTCGGTCCCGTACAGCCA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	1											82	81	81					1																	114438635		2203	4300	6503	114240158	SO:0001819	synonymous_variant	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1536G>T	1.37:g.114438635C>A			114240158	B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	CCDS865.1																																																																																				0.428	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		A	114438635	C	A	114438635	2	1	218	1	0	0	0	0	0	0	0	1	751	610	22	3		3	AP4B1	1	114438635	Silent	SNP	C	TCGA-24-1422-01A-01W-0545-08	51698111	114438635	134811986	5	12433											
C1orf9	51430	broad.mit.edu	37	1	172579024	172579024	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr1:172579024A>G	ENST00000263688.3	+	24	3609	c.3390A>G	c.(3388-3390)atA>atG	p.I1130M	SUCO_ENST00000367723.4_Missense_Mutation_p.I1281M|SUCO_ENST00000610051.1_Missense_Mutation_p.I759M|SUCO_ENST00000608151.1_Missense_Mutation_p.I1282M	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1130					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.I1130M(1)									TGCACCCCATAGCCAATGGCG	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											82	85	84					1																	172579024		2203	4299	6502	170845647	SO:0001583	missense	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3390A>G	1.37:g.172579024A>G	ENSP00000263688:p.Ile1130Met		170845647	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187035	0.38609	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.56	-1.77	0.07982	.	0.421232	0.26052	N	0.026628	T	0.16257	0.0391	L	0.44542	1.39	0.27524	N	0.951316	D;P;P	0.67145	0.996;0.818;0.498	P;P;B	0.53649	0.731;0.468;0.348	T	0.09465	-1.0673	9	0.38643	T	0.18	-7.6563	2.6068	0.04880	0.3286:0.364:0.0711:0.2362	.	759;1282;1130	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	M	1282;1130	.	ENSP00000263688:I1130M	I	+	3	3	C1orf9	170845647	0.995000	0.38212	0.604000	0.28916	0.957000	0.61999	0.422000	0.21296	-0.213000	0.10094	0.528000	0.53228	ATA		0.378	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		G	172579024	A	G	172579024	3	3	218	1	0	0	0	0	1	0	0	0	2067	410	15	4	3484	4	C1orf9	1	172579024	Missense_Mutation	SNP	A	TCGA-24-1422-01A-01W-0545-08	58140389	172579024	76671597	6	12434											
KIAA1614	57710	broad.mit.edu	37	1	180913547	180913547	+	Missense_Mutation	SNP	G	G	T	rs376517410		TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr1:180913547G>T	ENST00000367588.4	+	8	3237	c.3182G>T	c.(3181-3183)cGg>cTg	p.R1061L	KIAA1614_ENST00000461346.1_3'UTR|KIAA1614_ENST00000367587.1_Missense_Mutation_p.R682L|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1061	Ser-rich.							p.R1061L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CACCAGCGTCGGAAAGCTGCC	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											69	72	71					1																	180913547		1997	4166	6163	179180170	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3182G>T	1.37:g.180913547G>T	ENSP00000356560:p.Arg1061Leu		179180170	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114553	0.77210	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.39406	1.63;1.08	5.06	2.12	0.27331	.	0.199071	0.31872	N	0.006925	T	0.57110	0.2031	M	0.69823	2.125	0.35356	D	0.787757	P;D	0.67145	0.872;0.996	P;D	0.65773	0.524;0.938	T	0.68176	-0.5478	9	0.66056	D	0.02	-8.1633	9.6468	0.39872	0.2366:0.0:0.7634:0.0	.	682;1061	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	L	1061;682	ENSP00000356560:R1061L;ENSP00000356559:R682L	ENSP00000356559:R682L	R	+	2	0	KIAA1614	179180170	0.988000	0.35896	0.994000	0.49952	0.965000	0.64279	1.346000	0.33964	0.539000	0.28788	0.491000	0.48974	CGG		0.572	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180913547	G	T	180913547	3	4	218	1	0	0	0	0	1	0	0	0	8248	1116	39	3	3212	3	KIAA1614	1	180913547	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	8334523	180913547	68337074	7	12435											
LCLAT1	253558	broad.mit.edu	37	2	30682501	30682501	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr2:30682501T>C	ENST00000309052.4	+	2	232	c.23T>C	c.(22-24)aTt>aCt	p.I8T	LCLAT1_ENST00000359433.1_Missense_Mutation_p.I8T|LCLAT1_ENST00000319406.4_Missense_Mutation_p.I8T|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000379509.3_Intron|LCLAT1_ENST00000540623.1_5'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	8					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.I8T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGAAGGGAAATTGTGGTGCTT	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											284	274	277					2																	30682501		2203	4300	6503	30536005	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.23T>C	2.37:g.30682501T>C	ENSP00000310551:p.Ile8Thr		30536005	A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	T	6.173	0.400154	0.11696	.	.	ENSG00000172954	ENST00000319406;ENST00000309052;ENST00000359433;ENST00000497423	T;T;T	0.54071	0.59;1.36;0.59	3.15	-2.63	0.06133	.	24.407300	0.00664	U	0.000601	T	0.33381	0.0861	N	0.08118	0	0.09310	N	0.999999	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.0	T	0.37842	-0.9688	10	0.87932	D	0	0.1381	7.9102	0.29787	0.0:0.5377:0.0:0.4623	.	8;8	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	T	8	ENSP00000368826:I8T;ENSP00000310551:I8T;ENSP00000352406:I8T	ENSP00000310551:I8T	I	+	2	0	LCLAT1	30536005	0.149000	0.22717	0.000000	0.03702	0.004000	0.04260	-0.219000	0.09228	-0.550000	0.06183	0.459000	0.35465	ATT		0.438	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		C	30682501	T	C	30682501	3	2	218	1	0	0	0	0	1	0	0	0	8677	1493	52	4	25	4	LCLAT1	2	30682501	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08		30682501	212516872	8	12436											
SNRNP200	23020	broad.mit.edu	37	2	96965080	96965080	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr2:96965080G>A	ENST00000323853.5	-	6	793	c.716C>T	c.(715-717)aCc>aTc	p.T239I	SNRNP200_ENST00000349783.5_Missense_Mutation_p.T239I	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	239					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.T239I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AGCCGAGAGGGTGCAGCGCAC	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											262	235	244					2																	96965080		2203	4300	6503	96328807	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.716C>T	2.37:g.96965080G>A	ENSP00000317123:p.Thr239Ile		96328807	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024167	0.54683	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.44881	0.91;0.91	5.07	5.07	0.68467	.	0.101209	0.64402	D	0.000003	T	0.40979	0.1139	L	0.53249	1.67	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.17930	-1.0353	10	0.30078	T	0.28	-18.0189	17.375	0.87390	0.0:0.0:1.0:0.0	.	239	O75643	U520_HUMAN	I	239	ENSP00000317123:T239I;ENSP00000326937:T239I	ENSP00000317123:T239I	T	-	2	0	SNRNP200	96328807	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.242000	0.78210	2.629000	0.89072	0.555000	0.69702	ACC		0.502	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		A	96965080	G	A	96965080	3	1	218	1	0	0	0	0	1	0	0	0	14855	1261	44	2	5854	2	SNRNP200	2	96965080	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	66282579	96965080	146234293	9	12437											
PLEKHB2	55041	broad.mit.edu	37	2	131884288	131884288	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr2:131884288C>G	ENST00000403716.1	+	4	782	c.222C>G	c.(220-222)gaC>gaG	p.D74E	PLEKHB2_ENST00000439822.2_Missense_Mutation_p.D74E|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.D74E|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.D26E|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.D74E|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.D74E|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.D74E|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.D74E|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.D74E|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.D74E	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	74	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					endosome (GO:0005768)|membrane (GO:0016020)		p.D74E(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		AGTCAAAAGACTGCATGCTCC	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											103	102	103					2																	131884288		2203	4300	6503	131600758	SO:0001583	missense	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.222C>G	2.37:g.131884288C>G	ENSP00000385892:p.Asp74Glu		131600758	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	37	CCDS46413.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740986	0.30865	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000439822;ENST00000438882;ENST00000538982;ENST00000404460;ENST00000409612;ENST00000409279;ENST00000303908	T;T;T;T;T;T;T;T;T;T	0.29655	2.78;2.78;2.78;2.78;2.78;1.56;2.78;2.78;2.78;2.78	4.58	1.67	0.24075	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.121856	0.52532	N	0.000063	T	0.14227	0.0344	N	0.16862	0.45	0.44660	D	0.997645	P;B;B;B;B;B;B	0.41978	0.767;0.046;0.002;0.002;0.196;0.002;0.002	B;B;B;B;B;B;B	0.38683	0.279;0.036;0.005;0.003;0.04;0.005;0.008	T	0.09729	-1.0661	10	0.29301	T	0.29	-17.4179	3.861	0.08996	0.3373:0.4797:0.0:0.183	.	74;74;74;74;74;74;74	B4DZ66;B4DF08;Q53FF1;Q96CS7-3;B7WPA5;Q96CS7;B8ZZN1	.;.;.;.;.;PKHB2_HUMAN;.	E	74;74;74;74;74;26;74;74;74;74	ENSP00000386410:D74E;ENSP00000385892:D74E;ENSP00000234115:D74E;ENSP00000389629:D74E;ENSP00000401193:D74E;ENSP00000444389:D26E;ENSP00000385609:D74E;ENSP00000386662:D74E;ENSP00000386666:D74E;ENSP00000306852:D74E	ENSP00000234115:D74E	D	+	3	2	PLEKHB2	131600758	0.711000	0.27906	0.999000	0.59377	0.957000	0.61999	-0.087000	0.11215	0.095000	0.17434	-0.253000	0.11424	GAC		0.358	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		G	131884288	C	G	131884288	3	3	218	1	0	0	0	0	1	0	0	0	12065	564	20	3	232	3	PLEKHB2	2	131884288	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	34919208	131884288	111315085	10	12438											
SCRN3	79634	broad.mit.edu	37	2	175269043	175269043	+	Splice_Site	SNP	G	G	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr2:175269043G>C	ENST00000272732.6	+	5	836	c.754G>C	c.(754-756)Gga>Cga	p.G252R	SCRN3_ENST00000409673.3_Splice_Site_p.G245R	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	252							dipeptidase activity (GO:0016805)	p.G252R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TAAGCACAAAGGTAATTTTAT	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											49	46	47					2																	175269043		2203	4300	6503	174977289	SO:0001630	splice_region_variant	79634			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.754+1G>C	2.37:g.175269043G>C			174977289	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074685	0.94000	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.10099	2.91;2.92	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00351	-1.1796	10	0.72032	D	0.01	-17.7213	20.088	0.97803	0.0:0.0:1.0:0.0	.	245;252	B4DI11;Q0VDG4	.;SCRN3_HUMAN	R	245;252	ENSP00000387142:G245R;ENSP00000272732:G252R	ENSP00000272732:G252R	G	+	1	0	SCRN3	174977289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.808000	0.99193	2.739000	0.93911	0.655000	0.94253	GGA		0.328	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583	Missense_Mutation	C	175269043	G	C	175269043	5	2	218	1	0	0	0	0	0	0	1	0	13943	1014	35	3	768	3	SCRN3	2	175269043	Splice_Site	SNP	G	TCGA-24-1422-01A-01W-0545-08	43384755	175269043	67930330	11	12439											
MDH1B	130752	broad.mit.edu	37	2	207622058	207622058	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr2:207622058C>G	ENST00000374412.3	-	3	448	c.173G>C	c.(172-174)aGt>aCt	p.S58T	MDH1B_ENST00000454776.2_Missense_Mutation_p.S58T|MDH1B_ENST00000392214.2_Missense_Mutation_p.S58T|MDH1B_ENST00000449792.1_5'UTR	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	58					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.S58T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATTCTTGTGACTCCACTTATT	0.403																																					Pancreas(76;29 1355 28675 37177 51207)											1	Substitution - Missense(1)	ovary(1)	2											129	125	126					2																	207622058		2203	4300	6503	207330303	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.173G>C	2.37:g.207622058C>G	ENSP00000363533:p.Ser58Thr		207330303	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	7.301	0.613081	0.14066	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T;T	0.59772	0.24;0.24;0.24	5.84	-1.96	0.07525	.	0.458064	0.27768	N	0.017931	T	0.50480	0.1618	L	0.54323	1.7	0.09310	N	1	B;B	0.27117	0.168;0.105	B;B	0.32805	0.153;0.073	T	0.44877	-0.9299	10	0.35671	T	0.21	-8.3725	13.1504	0.59486	0.0:0.3697:0.0:0.6303	.	58;58	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	T	58	ENSP00000363533:S58T;ENSP00000389916:S58T;ENSP00000376049:S58T	ENSP00000363533:S58T	S	-	2	0	MDH1B	207330303	0.031000	0.19500	0.074000	0.20217	0.524000	0.34500	0.126000	0.15769	-0.768000	0.04626	-0.136000	0.14681	AGT		0.403	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		G	207622058	C	G	207622058	3	3	218	1	0	0	0	0	1	0	0	0	9409	565	20	3	1423	3	MDH1B	2	207622058	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	32353015	207622058	35577315	12	12440											
DNER	92737	broad.mit.edu	37	2	230231640	230231640	+	Missense_Mutation	SNP	C	C	T	rs530602445		TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr2:230231640C>T	ENST00000341772.4	-	12	2185	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	684					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.R684H(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GTCGATGCTGCGGCAGTTGTA	0.557													C|||	1	0.000199681	0	0	5008	,	,		18281	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	2											65	61	62					2																	230231640		2203	4300	6503	229939884	SO:0001583	missense	92737			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.2051G>A	2.37:g.230231640C>T	ENSP00000345229:p.Arg684His		229939884	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546715	0.96488	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86627	-2.15	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.89808	0.6822	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.89432	0.3717	10	0.45353	T	0.12	.	20.3382	0.98754	0.0:1.0:0.0:0.0	.	684	Q8NFT8	DNER_HUMAN	H	684;402	ENSP00000345229:R684H	ENSP00000345229:R684H	R	-	2	0	DNER	229939884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.397000	0.79903	2.817000	0.96982	0.551000	0.68910	CGC		0.557	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		T	230231640	C	T	230231640	3	4	218	1	0	0	0	0	1	0	0	0	4667	768	27	1	170	1	DNER	2	230231640	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	22609582	230231640	12967733	13	12441											
TRIP12	9320	broad.mit.edu	37	2	230657764	230657764	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr2:230657764G>C	ENST00000283943.5	-	26	4019	c.3841C>G	c.(3841-3843)Cag>Gag	p.Q1281E	TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1329E|TRIP12_ENST00000389045.3_Missense_Mutation_p.Q1011E	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1281					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1281E(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCCTTCCACTGCTTCACATTT	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											126	120	122					2																	230657764		2203	4300	6503	230366008	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3841C>G	2.37:g.230657764G>C	ENSP00000283943:p.Gln1281Glu		230366008	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291624	0.80914	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.53423	0.64;1.02;0.62	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	L	0.41415	1.275	0.80722	D	1	P;P;P	0.45715	0.713;0.865;0.713	P;P;P	0.54706	0.68;0.759;0.68	T	0.55792	-0.8085	10	0.52906	T	0.07	.	19.6261	0.95678	0.0:0.0:1.0:0.0	.	1011;1329;1281	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	E	1281;1011;1329	ENSP00000283943:Q1281E;ENSP00000373697:Q1011E;ENSP00000373696:Q1329E	ENSP00000283943:Q1281E	Q	-	1	0	TRIP12	230366008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.431000	0.97494	2.615000	0.88500	0.650000	0.86243	CAG		0.418	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		C	230657764	G	C	230657764	3	2	218	1	0	0	0	0	1	0	0	0	16556	1328	46	3	2201	3	TRIP12	2	230657764	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	426124	230657764	12541609	14	12442											
RBM44	375316	broad.mit.edu	37	2	238732966	238732966	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr2:238732966T>C	ENST00000409864.1	+	10	2610	c.2356T>C	c.(2356-2358)Tgg>Cgg	p.W786R	RBM44_ENST00000316997.4_Missense_Mutation_p.W786R			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	785						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.W786R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAGCGAAGACTGGTCTGATGC	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											124	126	125					2																	238732966		1978	4162	6140	238397705	SO:0001583	missense	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2356T>C	2.37:g.238732966T>C	ENSP00000386727:p.Trp786Arg		238397705	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557616	0.65425	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.61274	0.12;0.12	5.32	5.32	0.75619	.	.	.	.	.	T	0.74566	0.3733	M	0.76574	2.34	0.38993	D	0.959187	D	0.89917	1.0	D	0.85130	0.997	T	0.79509	-0.1774	9	0.87932	D	0	-4.9625	12.6551	0.56784	0.0:0.0:0.0:1.0	.	785	Q6ZP01	RBM44_HUMAN	R	786	ENSP00000321179:W786R;ENSP00000386727:W786R	ENSP00000321179:W786R	W	+	1	0	RBM44	238397705	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.498000	0.60373	2.018000	0.59344	0.528000	0.53228	TGG		0.443	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		C	238732966	T	C	238732966	3	2	218	1	0	0	0	0	1	0	0	0	13141	1580	55	4	2390	4	RBM44	2	238732966	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08	8075202	238732966	4466407	15	12443											
CCDC13	152206	broad.mit.edu	37	3	42799682	42799682	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr3:42799682C>A	ENST00000310232.6	-	2	239	c.156G>T	c.(154-156)gaG>gaT	p.E52D	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	52								p.E52D(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CATCTGAAACCTCCAAGGGCT	0.488																																																1	Substitution - Missense(1)	ovary(1)	3											204	172	183					3																	42799682		2203	4300	6503	42774686	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.156G>T	3.37:g.42799682C>A	ENSP00000309836:p.Glu52Asp		42774686		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	6.885	0.532667	0.13127	.	.	ENSG00000244607	ENST00000310232	T	0.23754	1.89	4.59	3.63	0.41609	.	1.154010	0.06178	N	0.678874	T	0.20700	0.0498	L	0.44542	1.39	0.09310	N	0.999999	B;B;B	0.24721	0.11;0.11;0.065	B;B;B	0.27715	0.082;0.082;0.059	T	0.35699	-0.9778	10	0.13108	T	0.6	.	4.352	0.11160	0.2274:0.6539:0.0:0.1187	.	52;52;52	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	D	52	ENSP00000309836:E52D	ENSP00000309836:E52D	E	-	3	2	CCDC13	42774686	0.000000	0.05858	0.008000	0.14137	0.112000	0.19704	0.270000	0.18607	2.367000	0.80283	0.655000	0.94253	GAG		0.488	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		A	42799682	C	A	42799682	3	1	218	1	0	0	0	0	1	0	0	0	2765	680	24	3	2051	3	CCDC13	3	42799682	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08		42799682	155222748	16	12444											
ITIH3	3699	broad.mit.edu	37	3	52828859	52828859	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr3:52828859C>T	ENST00000449956.2	+	1	46	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	ITIH3_ENST00000416872.2_Missense_Mutation_p.L14F	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	14					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L14F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTGGCTCTGCTCTCCAGCTT	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											130	141	137					3																	52828859		2070	4213	6283	52803899	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.40C>T	3.37:g.52828859C>T	ENSP00000415769:p.Leu14Phe		52803899	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.08|10.08	1.252863|1.252863	0.22965|0.22965	.|.	.|.	ENSG00000162267|ENSG00000162267	ENST00000273291|ENST00000398670;ENST00000536431;ENST00000416872;ENST00000449956	.|T;T	.|0.03272	.|3.99;4.63	4.89|4.89	1.83|1.83	0.25207|0.25207	.|.	0.603585|.	0.17227|.	N|.	0.182086|.	T|T	0.02888|0.02888	0.0086|0.0086	N|N	0.19112|0.19112	0.55|0.55	0.30957|0.30957	N|N	0.724062|0.724062	.|B;B	.|0.11235	.|0.0;0.004	.|B;B	.|0.09377	.|0.002;0.004	T|T	0.20140|0.20140	-1.0284|-1.0284	7|9	0.11182|0.72032	T|D	0.66|0.01	-0.3673|-0.3673	7.0569|7.0569	0.25104|0.25104	0.0:0.6871:0.0:0.3129|0.0:0.6871:0.0:0.3129	.|.	.|14;14	.|E7ET33;Q06033	.|.;ITIH3_HUMAN	V|F	10|14	.|ENSP00000413922:L14F;ENSP00000415769:L14F	ENSP00000273291:A10V|ENSP00000381662:L14F	A|L	+|+	2|1	0|0	ITIH3|ITIH3	52803899|52803899	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.361000|0.361000	0.29550|0.29550	0.725000|0.725000	0.25970|0.25970	0.261000|0.261000	0.21753|0.21753	0.591000|0.591000	0.81541|0.81541	GCT|CTC		0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		T	52828859	C	T	52828859	3	4	218	1	0	0	0	0	1	0	0	0	7905	797	28	2	42	2	ITIH3	3	52828859	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	10029177	52828859	145193571	17	12445											
OR5H1	26341	broad.mit.edu	37	3	97852398	97852398	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr3:97852398A>T	ENST00000354565.2	+	1	857	c.857A>T	c.(856-858)aAt>aTt	p.N286I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N286I(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CCTTTGTTAAATCCTATCATC	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											92	98	96					3																	97852398		2203	4298	6501	99335088	SO:0001583	missense	26341			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.857A>T	3.37:g.97852398A>T	ENSP00000346575:p.Asn286Ile		99335088		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928480	0.34002	.	.	ENSG00000231192	ENST00000354565	T	0.59638	0.25	3.38	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.79969	0.4538	H	0.94925	3.6	0.31927	N	0.612637	D	0.89917	1.0	D	0.91635	0.999	D	0.83999	0.0342	10	0.87932	D	0	.	9.7725	0.40598	1.0:0.0:0.0:0.0	.	286	A6NKK0	OR5H1_HUMAN	I	286	ENSP00000346575:N286I	ENSP00000346575:N286I	N	+	2	0	OR5H1	99335088	1.000000	0.71417	0.697000	0.30258	0.007000	0.05969	8.216000	0.89764	1.397000	0.46682	0.164000	0.16699	AAT		0.373	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97852398	A	T	97852398	3	4	218	1	0	0	0	0	1	0	0	0	11159	101	4	5	859	5	OR5H1	3	97852398	Missense_Mutation	SNP	A	TCGA-24-1422-01A-01W-0545-08	45023539	97852398	100170032	18	12446											
IFT122	55764	broad.mit.edu	37	3	129218838	129218838	+	Missense_Mutation	SNP	G	G	T	rs561825107		TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr3:129218838G>T	ENST00000348417.2	+	19	2379	c.2302G>T	c.(2302-2304)Gtg>Ttg	p.V768L	IFT122_ENST00000431818.2_Missense_Mutation_p.V618L|IFT122_ENST00000296266.3_Missense_Mutation_p.V819L|IFT122_ENST00000504021.1_Missense_Mutation_p.V644L|IFT122_ENST00000347300.2_Missense_Mutation_p.V709L|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000349441.2_Missense_Mutation_p.V657L|IFT122_ENST00000507564.1_Missense_Mutation_p.V760L|IFT122_ENST00000440957.2_Missense_Mutation_p.V559L	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	768					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.V819L(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAAAGCCGCCGTGGAGATGTA	0.527																																																1	Substitution - Missense(1)	ovary(1)	3											157	142	147					3																	129218838		2203	4300	6503	130701528	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2302G>T	3.37:g.129218838G>T	ENSP00000324005:p.Val768Leu		130701528	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939921	0.73557	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.60672	0.81;0.17;0.29;0.34;0.95;0.94;0.81;0.34;0.93	5.06	5.06	0.68205	.	0.063147	0.64402	D	0.000005	T	0.59266	0.2181	L	0.55481	1.735	0.53005	D	0.999965	P;P;B;P;B;B;B;B;P;P	0.46457	0.628;0.591;0.353;0.546;0.273;0.273;0.273;0.393;0.662;0.878	B;B;B;B;B;B;B;B;B;B	0.43478	0.209;0.421;0.089;0.325;0.124;0.124;0.124;0.246;0.145;0.35	T	0.66156	-0.5994	10	0.72032	D	0.01	-22.0937	18.4268	0.90612	0.0:0.0:1.0:0.0	.	559;94;760;155;644;608;657;709;768;819	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	L	709;819;760;709;618;644;657;768;608;559;265;130	ENSP00000323973:V709L;ENSP00000296266:V819L;ENSP00000425536:V760L;ENSP00000410946:V618L;ENSP00000422179:V644L;ENSP00000324165:V657L;ENSP00000324005:V768L;ENSP00000401569:V559L;ENSP00000424727:V265L	ENSP00000296266:V819L	V	+	1	0	IFT122	130701528	1.000000	0.71417	0.962000	0.40283	0.979000	0.70002	9.525000	0.98039	2.338000	0.79540	0.655000	0.94253	GTG		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		T	129218838	G	T	129218838	3	4	218	1	0	0	0	0	1	0	0	0	7555	1145	40	3	2533	3	IFT122	3	129218838	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	31366440	129218838	68803592	19	12447											
SLC33A1	9197	broad.mit.edu	37	3	155560338	155560338	+	Silent	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr3:155560338G>A	ENST00000392845.3	-	2	1226	c.846C>T	c.(844-846)aaC>aaT	p.N282N	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Silent_p.N282N			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	282					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.N282N(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGATACTTCGTTTTCTTTTT	0.308																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	3											84	75	78					3																	155560338		2203	4299	6502	157043032	SO:0001819	synonymous_variant	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.846C>T	3.37:g.155560338G>A			157043032	B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	CCDS3173.1																																																																																				0.308	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		A	155560338	G	A	155560338	2	1	218	1	0	0	0	0	0	0	0	1	14569	1136	40	1		1	SLC33A1	3	155560338	Silent	SNP	G	TCGA-24-1422-01A-01W-0545-08	26341500	155560338	42462092	20	12448											
TRA2B	6434	broad.mit.edu	37	3	185641608	185641608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	-	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr3:185641608delA	ENST00000453386.2	-	4	773	c.498delT	c.(496-498)tttfs	p.F166fs	TRA2B_ENST00000382191.4_Frame_Shift_Del_p.F66fs|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	166	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F166fs*4(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CTACATTTTCAAAATATACAA	0.388																																																1	Deletion - Frameshift(1)	ovary(1)	3											84	81	82					3																	185641608		2203	4300	6503	187124302	SO:0001589	frameshift_variant	6434			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.498delT	3.37:g.185641608delA	ENSP00000416959:p.Phe166fs		187124302	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Frame_Shift_Del	DEL	ENST00000453386.2	37	CCDS33905.1																																																																																				0.388	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		-	185641608	A	-	185641608	7	5	218	1	0	1	0	1	0	0	0	0	16434	127	5	0	392	0	TRA2B	3	185641608	Frame_Shift_Del	DEL	A	TCGA-24-1422-01A-01W-0545-08	30081270	185641608	12380822	21	12449											
TBCK	93627	broad.mit.edu	37	4	107133941	107133941	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr4:107133941C>G	ENST00000273980.5	-	21	2273	c.1826G>C	c.(1825-1827)aGt>aCt	p.S609T	TBCK_ENST00000432496.2_Missense_Mutation_p.S609T|TBCK_ENST00000361687.4_Missense_Mutation_p.S546T|TBCK_ENST00000394706.3_Missense_Mutation_p.S570T|TBCK_ENST00000394708.2_Missense_Mutation_p.S609T|TBCK_ENST00000514689.1_5'UTR					TBC1 domain containing kinase									p.S609T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GAGATGATTACTCAGCTCTGG	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											147	155	152					4																	107133941		2203	4298	6501	107353390	SO:0001583	missense	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1826G>C	4.37:g.107133941C>G	ENSP00000273980:p.Ser609Thr		107353390		Missense_Mutation	SNP	ENST00000273980.5	37	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798489	0.70567	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.04	5.04	0.67666	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.42744	1.35	0.58432	D	0.999999	B;D;B	0.58268	0.242;0.982;0.216	B;P;B	0.54889	0.166;0.763;0.108	T	0.02093	-1.1215	10	0.46703	T	0.11	.	18.7462	0.91794	0.0:1.0:0.0:0.0	.	609;570;546	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	T	609;609;546;570;609	ENSP00000273980:S609T;ENSP00000405847:S609T;ENSP00000355338:S546T;ENSP00000378196:S570T;ENSP00000378198:S609T	ENSP00000273980:S609T	S	-	2	0	TBCK	107353390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.354000	0.79424	2.495000	0.84180	0.491000	0.48974	AGT		0.333	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		G	107133941	C	G	107133941	3	3	218	1	0	0	0	0	1	0	0	0	15636	565	20	3	883	3	TBCK	4	107133941	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08		107133941	84020335	22	12450											
KIAA1109	84162	broad.mit.edu	37	4	123271114	123271114	+	Silent	SNP	A	A	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr4:123271114A>G	ENST00000264501.4	+	80	14107	c.13734A>G	c.(13732-13734)gaA>gaG	p.E4578E	KIAA1109_ENST00000388738.3_Silent_p.E4578E			Q2LD37	K1109_HUMAN	KIAA1109	4578					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E4578E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCTCCAGGAATTTTTCACAC	0.403																																																1	Substitution - coding silent(1)	ovary(1)	4											174	166	168					4																	123271114		1825	4090	5915	123490564	SO:0001819	synonymous_variant	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13734A>G	4.37:g.123271114A>G			123490564	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	7.354	0.623551	0.14193	.	.	ENSG00000138688	ENST00000306802	.	.	.	5.85	-0.426	0.12314	.	.	.	.	.	T	0.57858	0.2082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54241	-0.8323	4	.	.	.	.	10.5644	0.45165	0.4989:0.0:0.5011:0.0	.	.	.	.	S	954	.	.	N	+	2	0	KIAA1109	123490564	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.222000	0.32515	0.144000	0.18951	0.460000	0.39030	AAT		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		G	123271114	A	G	123271114	2	3	218	1	0	0	0	0	0	0	0	1	8208	98	4	4		4	KIAA1109	4	123271114	Silent	SNP	A	TCGA-24-1422-01A-01W-0545-08	16137173	123271114	67883162	23	12451											
RWDD4A	201965	broad.mit.edu	37	4	184572200	184572200	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr4:184572200C>A	ENST00000326397.5	-	4	572	c.300G>T	c.(298-300)ttG>ttT	p.L100F	RNU6-479P_ENST00000516348.1_RNA|RWDD4_ENST00000512740.1_Missense_Mutation_p.L37F|RWDD4_ENST00000510968.1_Missense_Mutation_p.L5F|RWDD4_ENST00000327570.9_Missense_Mutation_p.L100F	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	100	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.L100F(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CATATTCAAACAATGTATAGG	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											92	90	91					4																	184572200		2203	4300	6503	184809194	SO:0001583	missense	201965			BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"family with sequence similarity 28, member A", "RWD domain containing 4A"	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.300G>T	4.37:g.184572200C>A	ENSP00000388920:p.Leu100Phe		184809194	B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Missense_Mutation	SNP	ENST00000326397.5	37	CCDS34111.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665165	0.29604	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000510968;ENST00000512740	T;T;T;T	0.62364	0.58;0.58;0.03;0.58	5.24	1.1	0.20463	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.64402	D	0.000001	T	0.80999	0.4732	M	0.93898	3.47	0.50171	D	0.999855	D	0.63880	0.993	D	0.69479	0.964	T	0.82690	-0.0332	10	0.87932	D	0	-10.4966	10.9421	0.47278	0.1612:0.4145:0.4243:0.0	.	100	Q6NW29	RWDD4_HUMAN	F	100;100;5;37	ENSP00000388920:L100F;ENSP00000332177:L100F;ENSP00000426329:L5F;ENSP00000423598:L37F	ENSP00000388920:L100F	L	-	3	2	RWDD4	184809194	0.977000	0.34250	0.106000	0.21319	0.024000	0.10985	0.164000	0.16542	0.176000	0.19873	-0.499000	0.04595	TTG		0.383	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		A	184572200	C	A	184572200	3	1	218	1	0	0	0	0	1	0	0	0	13761	477	17	3	282	3	RWDD4A	4	184572200	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	61301086	184572200	6582076	24	12452											
CARD6	84674	broad.mit.edu	37	5	40843622	40843622	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr5:40843622G>T	ENST00000254691.5	+	2	851	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F	CARD6_ENST00000381677.3_Missense_Mutation_p.V218F	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	218	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.V218F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTAGGATCTGTTGACACCCC	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											64	67	66					5																	40843622		2203	4300	6503	40879379	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.652G>T	5.37:g.40843622G>T	ENSP00000254691:p.Val218Phe		40879379	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241711	0.58995	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.35421	2.53;1.31	5.23	2.26	0.28386	.	1.646510	0.03575	N	0.229256	T	0.29817	0.0745	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.29458	-1.0011	10	0.59425	D	0.04	-0.824	8.044	0.30538	0.0:0.3485:0.4841:0.1674	.	218	Q9BX69	CARD6_HUMAN	F	218	ENSP00000254691:V218F;ENSP00000371093:V218F	ENSP00000254691:V218F	V	+	1	0	CARD6	40879379	0.000000	0.05858	0.000000	0.03702	0.324000	0.28378	-0.082000	0.11304	0.273000	0.22049	0.655000	0.94253	GTT		0.408	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			T	40843622	G	T	40843622	3	4	218	1	0	0	0	0	1	0	0	0	2650	1377	48	3	658	3	CARD6	5	40843622	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08		40843622	140071638	25	12453											
STARD4	134429	broad.mit.edu	37	5	110837699	110837699	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr5:110837699G>T	ENST00000296632.3	-	4	377	c.243C>A	c.(241-243)agC>agA	p.S81R	STARD4_ENST00000509887.1_Intron|STARD4_ENST00000512160.1_Intron|STARD4_ENST00000502322.1_Missense_Mutation_p.S81R|STARD4_ENST00000511569.1_5'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	81	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.S81R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		AAGTCATCAAGCTGTCCCAAT	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											142	148	146					5																	110837699		2202	4300	6502	110865598	SO:0001583	missense	134429			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"StAR-related lipid transfer (START) domain containing"	18058	protein-coding gene	gene with protein product		607049	"START domain containing 4, sterol regulated"			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.243C>A	5.37:g.110837699G>T	ENSP00000296632:p.Ser81Arg		110865598	Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683929	0.29872	.	.	ENSG00000164211	ENST00000296632;ENST00000505803;ENST00000502322	T;T;T	0.77489	-1.1;-1.1;-1.1	5.94	-0.291	0.12843	Lipid-binding START (2);START-like domain (1);	0.061993	0.64402	N	0.000003	T	0.62938	0.2469	L	0.43701	1.375	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.16722	0.016;0.011	T	0.42481	-0.9449	10	0.19147	T	0.46	0.1095	6.3937	0.21601	0.3466:0.12:0.5334:0.0	.	81;81	Q86TN9;Q96DR4	.;STAR4_HUMAN	R	81	ENSP00000296632:S81R;ENSP00000427478:S81R;ENSP00000427639:S81R	ENSP00000296632:S81R	S	-	3	2	STARD4	110865598	0.997000	0.39634	0.991000	0.47740	0.995000	0.86356	0.367000	0.20382	-0.121000	0.11787	0.655000	0.94253	AGC		0.408	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		T	110837699	G	T	110837699	3	4	218	1	0	0	0	0	1	0	0	0	15261	962	34	3	386	3	STARD4	5	110837699	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	69994077	110837699	70077561	26	12454											
ALDH7A1	501	broad.mit.edu	37	5	125887729	125887729	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr5:125887729T>C	ENST00000409134.3	-	14	1520	c.1301A>G	c.(1300-1302)tAt>tGt	p.Y434C	RNU6-963P_ENST00000363477.1_RNA|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.Y370C|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.Y397C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	434					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)	p.Y406C(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		TTTAAAGACATAGAGAATCGG	0.398																																																1	Substitution - Missense(1)	ovary(1)	5											72	65	67					5																	125887729		2203	4300	6503	125915628	SO:0001583	missense	501			S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1301A>G	5.37:g.125887729T>C	ENSP00000387123:p.Tyr434Cys		125915628	B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929011	0.73327	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	D;D;D	0.90732	-2.72;-2.72;-2.72	4.71	4.71	0.59529	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	M	0.64567	1.98	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94663	0.7850	10	0.87932	D	0	.	14.3021	0.66359	0.0:0.0:0.0:1.0	.	397;434	E7EPT3;P49419	.;AL7A1_HUMAN	C	434;370;397;242	ENSP00000387123:Y434C;ENSP00000448593:Y370C;ENSP00000414132:Y397C	ENSP00000387123:Y434C	Y	-	2	0	ALDH7A1	125915628	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.618000	0.83043	2.107000	0.64212	0.533000	0.62120	TAT		0.398	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		C	125887729	T	C	125887729	3	2	218	1	0	0	0	0	1	0	0	0	504	1406	49	4	338	4	ALDH7A1	5	125887729	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08	15050030	125887729	55027531	27	12455											
PCDHA2	56146	broad.mit.edu	37	5	140174981	140174981	+	Silent	SNP	A	A	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr5:140174981A>G	ENST00000526136.1	+	1	432	c.432A>G	c.(430-432)gaA>gaG	p.E144E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.E144E|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.E144E	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	144					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E144E(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTCCCGAATCAAGGCTGC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	5											95	99	98					5																	140174981		2203	4300	6503	140155165	SO:0001819	synonymous_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.432A>G	5.37:g.140174981A>G			140155165	O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	CCDS54914.1																																																																																				0.473	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		G	140174981	A	G	140174981	2	3	218	1	0	0	0	0	0	0	0	1	11524	98	4	4		4	PCDHA2	5	140174981	Silent	SNP	A	TCGA-24-1422-01A-01W-0545-08	14287252	140174981	40740279	28	12456											
NSD1	64324	broad.mit.edu	37	5	176721628	176721628	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr5:176721628C>G	ENST00000439151.2	+	23	7304	c.7259C>G	c.(7258-7260)cCt>cGt	p.P2420R	NSD1_ENST00000347982.4_Missense_Mutation_p.P2151R|NSD1_ENST00000354179.4_Missense_Mutation_p.P2151R|NSD1_ENST00000361032.4_Missense_Mutation_p.P2317R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2420	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P2420R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		AGACTCCCACCTCCTGAGAAA	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	1	Substitution - Missense(1)	ovary(1)	5											73	83	80					5																	176721628		2203	4300	6503	176654234	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7259C>G	5.37:g.176721628C>G	ENSP00000395929:p.Pro2420Arg		176654234	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644003	0.47258	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93659	-3.16;-3.16;-3.16;-3.26	5.69	5.69	0.88448	.	0.101803	0.44483	D	0.000454	D	0.93093	0.7801	N	0.24115	0.695	0.35189	D	0.773196	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.963	D	0.94810	0.7978	10	0.87932	D	0	.	10.8666	0.46858	0.0:0.8713:0.0:0.1287	.	2151;2420	Q96L73-2;Q96L73	.;NSD1_HUMAN	R	2151;2420;2151;2317	ENSP00000346111:P2151R;ENSP00000395929:P2420R;ENSP00000343209:P2151R;ENSP00000354310:P2317R	ENSP00000343209:P2151R	P	+	2	0	NSD1	176654234	0.113000	0.22115	0.999000	0.59377	0.778000	0.44026	0.968000	0.29357	2.687000	0.91594	0.563000	0.77884	CCT		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		G	176721628	C	G	176721628	3	3	218	1	0	0	0	0	1	0	0	0	10669	681	24	3	7345	3	NSD1	5	176721628	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	36546647	176721628	4193632	29	12457											
CDKAL1	54901	broad.mit.edu	37	6	21065364	21065364	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr6:21065364G>C	ENST00000378610.1	+	10	1151	c.1141G>C	c.(1141-1143)Gtt>Ctt	p.V381L	CDKAL1_ENST00000378624.4_Missense_Mutation_p.V311L|CDKAL1_ENST00000274695.4_Missense_Mutation_p.V381L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	381					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.V381L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGTGAAACTTGTTGAAGAGTA	0.378																																																1	Substitution - Missense(1)	ovary(1)	6											103	102	102					6																	21065364		2203	4300	6503	21173343	SO:0001583	missense	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1141G>C	6.37:g.21065364G>C	ENSP00000367873:p.Val381Leu		21173343	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610668	0.66558	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.78246	-1.16;-1.16;-1.16	5.87	5.87	0.94306	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	L	0.33485	1.01	0.80722	D	1	P;B	0.35307	0.494;0.094	B;B	0.33254	0.16;0.123	T	0.63879	-0.6537	10	0.40728	T	0.16	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	311;381	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	L	381;311;381	ENSP00000274695:V381L;ENSP00000367889:V311L;ENSP00000367873:V381L	ENSP00000274695:V381L	V	+	1	0	CDKAL1	21173343	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GTT		0.378	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		C	21065364	G	C	21065364	3	2	218	1	0	0	0	0	1	0	0	0	3152	1377	48	3	1179	3	CDKAL1	6	21065364	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08		21065364	150049703	30	12458											
CLIC1	1192	broad.mit.edu	37	6	31704066	31704066	+	Silent	SNP	T	T	C	rs147567766	byFrequency	TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr6:31704066T>C	ENST00000375780.2	-	2	584	c.12A>G	c.(10-12)gaA>gaG	p.E4E	CLIC1_ENST00000375779.2_Silent_p.E4E|CLIC1_ENST00000395892.1_Silent_p.E4E|CLIC1_ENST00000375784.3_Silent_p.E4E			O00299	CLIC1_HUMAN	chloride intracellular channel 1	4	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E4E(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CCTGCGGTTGTTCTTCAGCCA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	6											137	106	117					6																	31704066		1511	2709	4220	31812045	SO:0001819	synonymous_variant	1192			U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"Ion channels / Chloride channels : Intracellular"	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.12A>G	6.37:g.31704066T>C			31812045	Q15089|Q502X1	Silent	SNP	ENST00000375780.2	37	CCDS4719.1																																																																																				0.597	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		C	31704066	T	C	31704066	2	2	218	1	0	0	0	0	0	0	0	1	3525	1722	60	4		4	CLIC1	6	31704066	Silent	SNP	T	TCGA-24-1422-01A-01W-0545-08	10638702	31704066	139411001	31	12459											
FAM83B	222584	broad.mit.edu	37	6	54804999	54804999	+	Silent	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr6:54804999T>C	ENST00000306858.7	+	5	1346	c.1230T>C	c.(1228-1230)aaT>aaC	p.N410N	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	410			N -> S (in dbSNP:rs13211183).					p.N410N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATAGAACCAATAATCCACCTG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	6											77	80	79					6																	54804999		2203	4300	6503	54912958	SO:0001819	synonymous_variant	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1230T>C	6.37:g.54804999T>C			54912958	Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	CCDS34479.1																																																																																				0.458	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		C	54804999	T	C	54804999	2	2	218	1	0	0	0	0	0	0	0	1	5634	1403	49	4		4	FAM83B	6	54804999	Silent	SNP	T	TCGA-24-1422-01A-01W-0545-08	23100933	54804999	116310068	32	12460											
FAM83B	222584	broad.mit.edu	37	6	54806238	54806238	+	Silent	SNP	A	A	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr6:54806238A>G	ENST00000306858.7	+	5	2585	c.2469A>G	c.(2467-2469)aaA>aaG	p.K823K	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	823								p.K823K(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAGACACAAAAGTTGATTCAT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	6											42	41	41					6																	54806238		2203	4300	6503	54914197	SO:0001819	synonymous_variant	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2469A>G	6.37:g.54806238A>G			54914197	Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	CCDS34479.1																																																																																				0.383	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		G	54806238	A	G	54806238	2	3	218	1	0	0	0	0	0	0	0	1	5634	69	3	4		4	FAM83B	6	54806238	Silent	SNP	A	TCGA-24-1422-01A-01W-0545-08	1239	54806238	116308829	33	12461											
ZNF292	23036	broad.mit.edu	37	6	87965018	87965018	+	Silent	SNP	A	A	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr6:87965018A>G	ENST00000369577.3	+	8	1714	c.1671A>G	c.(1669-1671)gtA>gtG	p.V557V	ZNF292_ENST00000339907.4_Silent_p.V552V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	557						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V412V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACAGAATAGTACGACATGCTC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	6											97	89	92					6																	87965018		1871	4107	5978	88021737	SO:0001819	synonymous_variant	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1671A>G	6.37:g.87965018A>G			88021737	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	CCDS47457.1																																																																																				0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		G	87965018	A	G	87965018	2	3	218	1	0	0	0	0	0	0	0	1	17826	378	14	4		4	ZNF292	6	87965018	Silent	SNP	A	TCGA-24-1422-01A-01W-0545-08	33158780	87965018	83150049	34	12462											
CYCS	54205	broad.mit.edu	37	7	25163377	25163377	+	Silent	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr7:25163377C>T	ENST00000305786.2	-	3	430	c.261G>A	c.(259-261)aaG>aaA	p.K87K	CYCS_ENST00000409409.1_Silent_p.K87K|CYCS_ENST00000409764.1_Silent_p.K87K	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	87					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|dephosphorylation (GO:0016311)|intrinsic apoptotic signaling pathway (GO:0097193)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.K87K(1)		endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Minocycline(DB01017)	CTTCCTTCTTCTTAATGCCGA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	7											73	77	75					7																	25163377		2203	4300	6503	25129902	SO:0001819	synonymous_variant	54205			M22877	CCDS5393.1	7p21.2	2014-09-17			ENSG00000172115	ENSG00000172115			19986	protein-coding gene	gene with protein product		123970				11790791	Standard	NM_018947		Approved	HCS, CYC	uc003sxl.3	P99999	OTTHUMG00000128495	ENST00000305786.2:c.261G>A	7.37:g.25163377C>T			25129902	A4D166|B2R4I1|P00001|Q6NUR2|Q6NX69|Q96BV4	Silent	SNP	ENST00000305786.2	37	CCDS5393.1																																																																																				0.378	CYCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250299.2			T	25163377	C	T	25163377	2	4	218	1	0	0	0	0	0	0	0	1	4136	912	32	2		2	CYCS	7	25163377	Silent	SNP	C	TCGA-24-1422-01A-01W-0545-08		25163377	133975286	35	12463											
URGCP	55665	broad.mit.edu	37	7	43918650	43918650	+	Missense_Mutation	SNP	C	C	T	rs201075158		TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr7:43918650C>T	ENST00000453200.1	-	6	905	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	URGCP_ENST00000447717.3_Missense_Mutation_p.V95M|URGCP_ENST00000443736.1_Missense_Mutation_p.V95M|URGCP_ENST00000223341.7_Missense_Mutation_p.V95M|URGCP_ENST00000402306.3_Missense_Mutation_p.V129M|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.V95M|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	138					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.V95M(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTGGGAGCACGTCCAGCACC	0.552																																																1	Substitution - Missense(1)	ovary(1)	7											87	93	91					7																	43918650		2004	4171	6175	43885175	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.412G>A	7.37:g.43918650C>T	ENSP00000396918:p.Val138Met		43885175	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	5.521	0.281010	0.10458	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198;ENST00000455877	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.6	-11.2	0.00127	.	2.629040	0.01113	N	0.005629	T	0.21468	0.0517	N	0.12961	0.28	0.09310	N	1	B;B	0.23058	0.033;0.079	B;B	0.09377	0.004;0.004	T	0.15407	-1.0438	10	0.46703	T	0.11	-1.3133	1.2827	0.02044	0.4263:0.1057:0.2165:0.2515	.	129;138	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	M	95;95;129;95;138;95;95;95	ENSP00000223341:V95M;ENSP00000336872:V95M;ENSP00000384955:V129M;ENSP00000392136:V95M;ENSP00000396918:V138M;ENSP00000402803:V95M;ENSP00000389990:V95M	ENSP00000223341:V95M	V	-	1	0	URGCP	43885175	0.000000	0.05858	0.000000	0.03702	0.668000	0.39293	-3.184000	0.00567	-2.685000	0.00406	-0.274000	0.10170	GTG		0.552	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		T	43918650	C	T	43918650	3	4	218	1	0	0	0	0	1	0	0	0	17026	536	19	1	2387	1	URGCP	7	43918650	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	18755273	43918650	115220013	36	12464											
PMPCB	9512	broad.mit.edu	37	7	102937979	102937979	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr7:102937979C>G	ENST00000249269.4	+	1	111	c.73C>G	c.(73-75)Ctt>Gtt	p.L25V	PMPCB_ENST00000428154.1_Missense_Mutation_p.L25V|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	25					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L25V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCGAGAGTCTTCTAATCCG	0.662											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	7											36	41	39					7																	102937979		2203	4299	6502	102725215	SO:0001583	missense	9512			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.73C>G	7.37:g.102937979C>G	ENSP00000249269:p.Leu25Val	1370	102725215	O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.772707	0.31411	.	.	ENSG00000105819	ENST00000249269;ENST00000428154	T;T	0.11712	2.76;2.75	5.31	-3.57	0.04612	.	1.003380	0.08026	N	0.992751	T	0.04815	0.0130	N	0.08118	0	0.20307	N	0.999915	B;B;B	0.17038	0.0;0.02;0.004	B;B;B	0.16722	0.001;0.016;0.015	T	0.43972	-0.9358	10	0.31617	T	0.26	.	6.7436	0.23449	0.1344:0.2736:0.0:0.5921	.	25;25;25	B3KM34;O75439;G3V0E4	.;MPPB_HUMAN;.	V	25	ENSP00000249269:L25V;ENSP00000390035:L25V	ENSP00000249269:L25V	L	+	1	0	PMPCB	102725215	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.444000	0.06854	-0.580000	0.05944	-0.738000	0.03535	CTT		0.662	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		G	102937979	C	G	102937979	3	3	218	1	0	0	0	0	1	0	0	0	12141	913	32	3	75	3	PMPCB	7	102937979	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	59019329	102937979	56200684	37	12465											
NRCAM	4897	broad.mit.edu	37	7	107818499	107818499	+	Silent	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr7:107818499C>T	ENST00000425651.2	-	23	2909	c.2910G>A	c.(2908-2910)ttG>ttA	p.L970L	NRCAM_ENST00000351718.4_Silent_p.L954L|NRCAM_ENST00000413765.2_Silent_p.L951L|NRCAM_ENST00000379028.3_Silent_p.L970L|NRCAM_ENST00000379024.4_Silent_p.L951L|NRCAM_ENST00000379022.4_Silent_p.L970L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	970	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.L954L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GATCCCATTCCAAAGTGAGAG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	7											85	74	78					7																	107818499		2203	4300	6503	107605735	SO:0001819	synonymous_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2910G>A	7.37:g.107818499C>T			107605735	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	CCDS47686.1																																																																																				0.453	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		T	107818499	C	T	107818499	2	4	218	1	0	0	0	0	0	0	0	1	10644	593	21	2		2	NRCAM	7	107818499	Silent	SNP	C	TCGA-24-1422-01A-01W-0545-08	4880520	107818499	51320164	38	12466											
PARP12	64761	broad.mit.edu	37	7	139726033	139726033	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr7:139726033G>A	ENST00000263549.3	-	11	2617	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	582	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.R582W(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCACAGACCCGCCAGTCAAAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											81	76	77					7																	139726033		2203	4300	6503	139372502	SO:0001583	missense	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1744C>T	7.37:g.139726033G>A	ENSP00000263549:p.Arg582Trp		139372502	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889667	0.72524	.	.	ENSG00000059378	ENST00000263549	T	0.15017	2.46	5.07	1.8	0.24995	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	H	0.95982	3.75	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.71507	-0.4572	10	0.87932	D	0	.	14.9338	0.70938	0.0:0.0:0.5221:0.4779	.	582	Q9H0J9	PAR12_HUMAN	W	582	ENSP00000263549:R582W	ENSP00000263549:R582W	R	-	1	2	PARP12	139372502	0.999000	0.42202	1.000000	0.80357	0.943000	0.58893	0.499000	0.22546	0.490000	0.27771	0.467000	0.42956	CGG		0.582	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		A	139726033	G	A	139726033	3	1	218	1	0	0	0	0	1	0	0	0	11457	1086	38	1	369	1	PARP12	7	139726033	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	31907534	139726033	19412630	39	12467											
OR2A5	393046	broad.mit.edu	37	7	143748037	143748037	+	Silent	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr7:143748037C>T	ENST00000408906.2	+	1	577	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I181I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTGTGAAATCCTGTCTGTCC	0.567																																																1	Substitution - coding silent(1)	ovary(1)	7											183	185	185					7																	143748037		2032	4205	6237	143378970	SO:0001819	synonymous_variant	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.543C>T	7.37:g.143748037C>T			143378970	B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	CCDS43668.1																																																																																				0.567	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			T	143748037	C	T	143748037	2	4	218	1	0	0	0	0	0	0	0	1	10981	845	30	2		2	OR2A5	7	143748037	Silent	SNP	C	TCGA-24-1422-01A-01W-0545-08	4022004	143748037	15390626	40	12468											
RP1	6101	broad.mit.edu	37	8	55540233	55540233	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr8:55540233T>A	ENST00000220676.1	+	4	3939	c.3791T>A	c.(3790-3792)gTa>gAa	p.V1264E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1264					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.V1264E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGTGCACTGTAAATAAGGCT	0.448																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	ovary(1)	8											155	149	151					8																	55540233		2203	4300	6503	55702786	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3791T>A	8.37:g.55540233T>A	ENSP00000220676:p.Val1264Glu		55702786		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	9.720	1.159311	0.21454	.	.	ENSG00000104237	ENST00000220676	T	0.27557	1.66	4.85	-1.77	0.07982	.	0.812859	0.10623	N	0.653167	T	0.17662	0.0424	L	0.34521	1.04	0.09310	N	1	B	0.17465	0.022	B	0.15052	0.012	T	0.32161	-0.9917	10	0.87932	D	0	.	0.756	0.00999	0.1701:0.2926:0.1758:0.3615	.	1264	P56715	RP1_HUMAN	E	1264	ENSP00000220676:V1264E	ENSP00000220676:V1264E	V	+	2	0	RP1	55702786	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.015000	0.13355	-0.168000	0.10853	-0.256000	0.11100	GTA		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55540233	T	A	55540233	3	1	218	1	0	0	0	0	1	0	0	0	13535	1638	57	5	3801	5	RP1	8	55540233	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08		55540233	90823789	41	12469											
VPS13B	157680	broad.mit.edu	37	8	100866130	100866130	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr8:100866130C>T	ENST00000358544.2	+	56	10699	c.10588C>T	c.(10588-10590)Cgg>Tgg	p.R3530W	VPS13B_ENST00000357162.2_Missense_Mutation_p.R3505W|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3530					protein transport (GO:0015031)			p.R3530W(1)|p.R3505R(1)|p.R3530R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAACCTGCTCGGTTATACGT	0.403																																					Colon(161;2205 2542 7338 31318)											3	Substitution - coding silent(2)|Substitution - Missense(1)	lung(2)|ovary(1)	8											115	119	118					8																	100866130		2203	4300	6503	100935306	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10588C>T	8.37:g.100866130C>T	ENSP00000351346:p.Arg3530Trp		100935306	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524735	0.64747	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71222	-0.54;-0.55	5.67	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.967;0.998	T	0.79801	-0.1650	10	0.72032	D	0.01	.	14.7758	0.69732	0.2626:0.7374:0.0:0.0	.	3505;3530	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	W	3505;3530	ENSP00000349685:R3505W;ENSP00000351346:R3530W	ENSP00000349685:R3505W	R	+	1	2	VPS13B	100935306	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	2.242000	0.43106	0.668000	0.31126	0.650000	0.86243	CGG		0.403	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100866130	C	T	100866130	3	4	218	1	0	0	0	0	1	0	0	0	17190	875	31	1	11000	1	VPS13B	8	100866130	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	45325897	100866130	45497892	42	12470											
TG	7038	broad.mit.edu	37	8	133900728	133900728	+	Silent	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr8:133900728T>C	ENST00000220616.4	+	10	2716	c.2676T>C	c.(2674-2676)caT>caC	p.H892H	TG_ENST00000377869.1_Silent_p.H892H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	892	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.H892H(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTGGCACATTTTGATCTTC	0.517																																																1	Substitution - coding silent(1)	ovary(1)	8											38	37	37					8																	133900728		2203	4300	6503	133969910	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2676T>C	8.37:g.133900728T>C			133969910	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																				0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133900728	T	C	133900728	2	2	218	1	0	0	0	0	0	0	0	1	15813	1490	52	4		4	TG	8	133900728	Silent	SNP	T	TCGA-24-1422-01A-01W-0545-08	33034598	133900728	12463294	43	12471											
FAM135B	51059	broad.mit.edu	37	8	139380193	139380193	+	Missense_Mutation	SNP	C	C	A	rs371759322		TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr8:139380193C>A	ENST00000395297.1	-	2	204	c.34G>T	c.(34-36)Gta>Tta	p.V12L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	12								p.V12I(2)|p.V12L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTAGCTCTACCGAAAACTCA	0.368										HNSCC(54;0.14)																																						4	Substitution - Missense(4)	ovary(2)|lung(2)	8											153	146	148					8																	139380193		1866	4103	5969	139449375	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.34G>T	8.37:g.139380193C>A	ENSP00000378710:p.Val12Leu		139449375	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403709	0.62288	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.21191	2.02	5.54	4.66	0.58398	.	0.122706	0.31134	U	0.008184	T	0.17619	0.0423	L	0.43152	1.355	0.35971	D	0.835297	B	0.32653	0.379	B	0.23716	0.048	T	0.15378	-1.0439	10	0.44086	T	0.13	-8.2035	13.1697	0.59591	0.0:0.9222:0.0:0.0778	.	12	Q49AJ0	F135B_HUMAN	L	12	ENSP00000378710:V12L	ENSP00000160713:V12L	V	-	1	0	FAM135B	139449375	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.193000	0.42658	1.471000	0.48121	0.561000	0.74099	GTA		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139380193	C	A	139380193	3	1	218	1	0	0	0	0	1	0	0	0	5449	507	18	3	4262	3	FAM135B	8	139380193	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	5479465	139380193	6983829	44	12472											
SMC2	10592	broad.mit.edu	37	9	106896802	106896802	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr9:106896802T>A	ENST00000286398.7	+	23	3503	c.3215T>A	c.(3214-3216)gTt>gAt	p.V1072D	SMC2_ENST00000374787.3_Missense_Mutation_p.V1072D|SMC2_ENST00000303219.8_Missense_Mutation_p.V1072D|SMC2_ENST00000374793.3_Missense_Mutation_p.V1072D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1072					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.V1072D(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAGTTCAAGGTTGCCTTGGGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	9											116	119	118					9																	106896802		2203	4300	6503	105936623	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3215T>A	9.37:g.106896802T>A	ENSP00000286398:p.Val1072Asp		105936623	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750540	0.89753	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	5.92	5.92	0.95590	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62343	-0.6874	10	0.87932	D	0	-20.2287	15.206	0.73180	0.0:0.0:0.0:1.0	.	1072	O95347	SMC2_HUMAN	D	1072	ENSP00000286398:V1072D;ENSP00000363925:V1072D;ENSP00000306152:V1072D;ENSP00000363919:V1072D	ENSP00000286398:V1072D	V	+	2	0	SMC2	105936623	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.040000	0.89188	2.267000	0.75376	0.477000	0.44152	GTT		0.403	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			A	106896802	T	A	106896802	3	1	218	1	0	0	0	0	1	0	0	0	14786	1725	60	5	3301	5	SMC2	9	106896802	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08		106896802	34316629	45	12473											
C10orf71	118461	broad.mit.edu	37	10	50530959	50530959	+	Silent	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr10:50530959G>A	ENST00000374144.3	+	3	657	c.369G>A	c.(367-369)caG>caA	p.Q123Q	C10orf71_ENST00000323868.4_Silent_p.Q123Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	123								p.Q123Q(1)		endometrium(1)	1						CGCCAGTCCAGAGGAGACTGG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	10											85	98	94					10																	50530959		1912	4130	6042	50200965	SO:0001819	synonymous_variant	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.369G>A	10.37:g.50530959G>A			50200965	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																				0.547	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50530959	G	A	50530959	2	1	218	1	0	0	0	0	0	0	0	1	1614	933	33	2		2	C10orf71	10	50530959	Silent	SNP	G	TCGA-24-1422-01A-01W-0545-08		50530959	85003788	46	12474											
KIAA0913	23053	broad.mit.edu	37	10	75556628	75556628	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr10:75556628A>T	ENST00000605216.1	+	16	3332	c.3115A>T	c.(3115-3117)Agg>Tgg	p.R1039W	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1006W|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R1044W|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1044W|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1039W	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1039							zinc ion binding (GO:0008270)										AGCCAGCCAGAGGTCTCCTTC	0.602																																																0			10											69	75	73					10																	75556628		1991	4172	6163	75226634	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3115A>T	10.37:g.75556628A>T	ENSP00000474748:p.Arg1039Trp		75226634	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	19.95|19.95|19.95	3.922090|3.922090|3.922090	0.73213|0.73213|0.73213	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000412198|ENST00000398706	.|.|T	.|.|0.48201	.|.|0.82	5.3|5.3|5.3	5.3|5.3|5.3	0.74995|0.74995|0.74995	.|.|.	.|0.205916|0.205916	.|0.30051|0.30051	.|U|U	.|0.010521|0.010521	T|T|T	0.51719|0.51719|0.51719	0.1691|0.1691|0.1691	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.39487|0.39487|0.39487	D|D|D	0.967981|0.967981|0.967981	.|.|D;D;D;D	.|.|0.58268	.|.|0.982;0.979;0.969;0.982	.|.|P;P;P;P	.|.|0.56127	.|.|0.721;0.792;0.721;0.721	T|T|T	0.52381|0.52381|0.52381	-0.8583|-0.8583|-0.8583	5|6|10	.|.|0.38643	.|.|T	.|.|0.18	-6.994|-6.994|-6.994	15.2489|15.2489|15.2489	0.73529|0.73529|0.73529	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|1039;1051;1039;1044	.|.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|.|K0913_HUMAN;.;.;.	V|S|W	754|313|1044	.|.|ENSP00000381693:R1044W	.|.|ENSP00000381693:R1044W	E|R|R	+|+|+	2|3|1	0|2|2	KIAA0913|KIAA0913|KIAA0913	75226634|75226634|75226634	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	6.923000|6.923000|6.923000	0.75817|0.75817|0.75817	2.009000|2.009000|2.009000	0.58944|0.58944|0.58944	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAG|AGA|AGG		0.602	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		T	75556628	A	T	75556628	3	4	218	1	0	0	0	0	1	0	0	0	8200	295	11	5	3192	5	KIAA0913	10	75556628	Missense_Mutation	SNP	A	TCGA-24-1422-01A-01W-0545-08	25025669	75556628	59978119	47	12475											
SORCS3	22986	broad.mit.edu	37	10	107022106	107022106	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr10:107022106A>T	ENST00000369701.3	+	26	3688	c.3461A>T	c.(3460-3462)aAc>aTc	p.N1154I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1154					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.N1154I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCTTGGATTAACATCTATGCT	0.488																																					NSCLC(116;1497 1690 7108 13108 14106)											1	Substitution - Missense(1)	ovary(1)	10											97	88	91					10																	107022106		2203	4300	6503	107012096	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3461A>T	10.37:g.107022106A>T	ENSP00000358715:p.Asn1154Ile		107012096	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591060	0.86851	.	.	ENSG00000156395	ENST00000369701	T	0.16324	2.35	5.69	5.69	0.88448	.	0.105903	0.64402	D	0.000005	T	0.35248	0.0925	L	0.46157	1.445	0.58432	D	0.999995	D	0.89917	1.0	D	0.77557	0.99	T	0.01930	-1.1245	9	.	.	.	.	15.9546	0.79876	1.0:0.0:0.0:0.0	.	1154	Q9UPU3	SORC3_HUMAN	I	1154	ENSP00000358715:N1154I	.	N	+	2	0	SORCS3	107012096	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.962000	0.93254	2.173000	0.68751	0.454000	0.30748	AAC		0.488	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	107022106	A	T	107022106	3	4	218	1	0	0	0	0	1	0	0	0	14935	43	2	5	3563	5	SORCS3	10	107022106	Missense_Mutation	SNP	A	TCGA-24-1422-01A-01W-0545-08	31465478	107022106	28512641	48	12476											
PSMD13	5719	broad.mit.edu	37	11	247370	247370	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr11:247370C>G	ENST00000532097.1	+	7	994	c.490C>G	c.(490-492)Caa>Gaa	p.Q164E	PSMD13_ENST00000431206.2_Missense_Mutation_p.Q166E|PSMD13_ENST00000352303.5_Missense_Mutation_p.Q164E	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|meiosis I (GO:0007127)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.Q164E(1)|p.Q166E(1)		NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TAAATACTATCAAACAATCGG	0.423																																																2	Substitution - Missense(2)	ovary(2)	11											113	97	103					11																	247370		2203	4300	6503	237370	SO:0001583	missense	5719			AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"Proteasome (prosome, macropain) subunits"	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.490C>G	11.37:g.247370C>G	ENSP00000436186:p.Gln164Glu		237370	B3KT15|O75831|Q53XU2|Q9UNV3	Missense_Mutation	SNP	ENST00000532097.1	37	CCDS7692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.57|18.57	3.653190|3.653190	0.67472|0.67472	.|.	.|.	ENSG00000185627|ENSG00000185627	ENST00000526783|ENST00000532097;ENST00000538343;ENST00000431206;ENST00000528906;ENST00000352303	.|T;T;T;T	.|0.16897	.|2.33;2.32;2.32;2.31	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.275074	.|0.42294	.|D	.|0.000734	T|T	0.19446|0.19446	0.0467|0.0467	L|L	0.48877|0.48877	1.53|1.53	0.50467|0.50467	D|D	0.999876|0.999876	.|B;B;B;B	.|0.28820	.|0.016;0.001;0.224;0.224	.|B;B;B;B	.|0.27500	.|0.023;0.009;0.08;0.08	T|T	0.01720|0.01720	-1.1288|-1.1288	5|10	.|0.32370	.|T	.|0.25	.|.	18.8888|18.8888	0.92389|0.92389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|166;99;164;164	.|Q9UNM6-2;B4DJ66;B2RBM7;Q9UNM6	.|.;.;.;PSD13_HUMAN	M|E	74|164;99;166;126;164	.|ENSP00000436186:Q164E;ENSP00000396937:Q166E;ENSP00000433364:Q126E;ENSP00000333811:Q164E	.|ENSP00000333811:Q164E	I|Q	+|+	3|1	3|0	PSMD13|PSMD13	237370|237370	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.898000|0.898000	0.52572|0.52572	6.076000|6.076000	0.71267|0.71267	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	ATC|CAA		0.423	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817		G	247370	C	G	247370	3	3	218	1	0	0	0	0	1	0	0	0	12699	827	29	3	597	3	PSMD13	11	247370	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08		247370	134759146	49	12477											
OR52A4	390053	broad.mit.edu	37	11	5142506	5142506	+	RNA	SNP	G	G	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr11:5142506G>C	ENST00000498233.1	-	0	892							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C101W(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTGAAAGAGGCAAGCATCAA	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											56	51	53					11																	5142506		2201	4298	6499	5099082			390053					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142506G>C			5099082		Missense_Mutation	SNP	ENST00000498233.1	37		.	.	.	.	.	.	.	.	.	.	G	11.53	1.667378	0.29604	.	.	ENSG00000248953	ENST00000380369	.	.	.	3.89	0.733	0.18289	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66954	0.2842	.	.	.	0.29662	N	0.843137	D	0.89917	1.0	D	0.97110	1.0	T	0.70364	-0.4892	6	0.87932	D	0	.	7.1666	0.25693	0.3427:0.0:0.6573:0.0	.	101	A6NMU1	O52A4_HUMAN	W	101	.	ENSP00000369727:C101W	C	-	3	2	OR52A4	5099082	0.946000	0.32159	0.718000	0.30602	0.989000	0.77384	1.285000	0.33261	0.037000	0.15575	-0.142000	0.14014	TGC		0.463	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		C	5142506	G	C	5142506	1	2	218	0	1	0	0	0	0	0	0	0	11109	1195	42	3		3	OR52A4	11	5142506	RNA	SNP	G	TCGA-24-1422-01A-01W-0545-08	4895136	5142506	129864010	50	12478											
OR4A47	403253	broad.mit.edu	37	11	48510886	48510886	+	Missense_Mutation	SNP	C	C	T	rs374169955		TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr11:48510886C>T	ENST00000446524.1	+	1	618	c.542C>T	c.(541-543)cCc>cTc	p.P181L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GACATGTATCCCTTATTGAAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	11											167	159	162					11																	48510886		2201	4298	6499	48467462	SO:0001583	missense	403253			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.542C>T	11.37:g.48510886C>T	ENSP00000412752:p.Pro181Leu		48467462		Missense_Mutation	SNP	ENST00000446524.1	37	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	10.65	1.409398	0.25378	.	.	ENSG00000237388	ENST00000446524	T	0.00224	8.51	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.117629	0.38778	N	0.001571	T	0.00666	0.0022	M	0.89785	3.06	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.28490	-1.0042	10	0.87932	D	0	.	10.6704	0.45755	0.1913:0.8087:0.0:0.0	.	181	Q6IF82	O4A47_HUMAN	L	181	ENSP00000412752:P181L	ENSP00000412752:P181L	P	+	2	0	OR4A47	48467462	0.001000	0.12720	0.146000	0.22360	0.047000	0.14425	1.387000	0.34430	2.218000	0.71995	0.511000	0.50034	CCC		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		T	48510886	C	T	48510886	3	4	218	1	0	0	0	0	1	0	0	0	11042	623	22	2	544	2	OR4A47	11	48510886	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	43368380	48510886	86495630	51	12479											
C11orf57	55216	broad.mit.edu	37	11	111953638	111953638	+	Missense_Mutation	SNP	G	G	A	rs201262827		TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr11:111953638G>A	ENST00000280352.9	+	6	1457	c.821G>A	c.(820-822)cGc>cAc	p.R274H	C11orf57_ENST00000532163.1_Missense_Mutation_p.R246H|C11orf57_ENST00000420986.2_Missense_Mutation_p.R274H|TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000393047.3_Missense_Mutation_p.R275H	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	274								p.R274H(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		ACAAACAAACGCACAAATTGG	0.398																																																1	Substitution - Missense(1)	ovary(1)	11											67	68	68					11																	111953638		2200	4292	6492	111458848	SO:0001583	missense	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.821G>A	11.37:g.111953638G>A	ENSP00000339076:p.Arg274His		111458848	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	CCDS41715.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255683	0.80135	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000393047;ENST00000393048	.	.	.	5.39	5.39	0.77823	.	0.369313	0.28889	N	0.013810	T	0.66963	0.2843	L	0.27053	0.805	0.44570	D	0.997538	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.70121	-0.4959	9	0.87932	D	0	-2.6889	19.3429	0.94350	0.0:0.0:1.0:0.0	.	275;274	Q6ZUT1-2;Q6ZUT1	.;CK057_HUMAN	H	274;246;274;275;129	.	ENSP00000339076:R274H	R	+	2	0	C11orf57	111458848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.211000	0.65219	2.795000	0.96236	0.655000	0.94253	CGC		0.398	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		A	111953638	G	A	111953638	3	1	218	1	0	0	0	0	1	0	0	0	1650	1087	38	1	842	1	C11orf57	11	111953638	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	63442752	111953638	23052878	52	12480											
FAM55D	54827	broad.mit.edu	37	11	114453017	114453017	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr11:114453017A>G	ENST00000375478.3	-	3	1003	c.823T>C	c.(823-825)Ttt>Ctt	p.F275L	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	275						extracellular vesicular exosome (GO:0070062)		p.F275L(1)									TACCTTTCAAAGAGGCTCTTT	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											72	68	70					11																	114453017		1851	4097	5948	113958227	SO:0001583	missense	54827			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.823T>C	11.37:g.114453017A>G	ENSP00000364627:p.Phe275Leu		113958227	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635644	0.47049	.	.	ENSG00000137634	ENST00000375478	T	0.12147	2.71	5.25	5.25	0.73442	.	0.087254	0.49916	D	0.000123	T	0.13628	0.0330	L	0.48642	1.525	0.80722	D	1	B	0.23854	0.092	B	0.24006	0.05	T	0.07520	-1.0768	10	0.19590	T	0.45	.	13.4358	0.61084	1.0:0.0:0.0:0.0	.	275	Q6UWF7	FA55D_HUMAN	L	275	ENSP00000364627:F275L	ENSP00000364627:F275L	F	-	1	0	FAM55D	113958227	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	6.208000	0.72165	2.105000	0.64084	0.533000	0.62120	TTT		0.363	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		G	114453017	A	G	114453017	3	3	218	1	0	0	0	0	1	0	0	0	5587	72	3	4	827	4	FAM55D	11	114453017	Missense_Mutation	SNP	A	TCGA-24-1422-01A-01W-0545-08	2499379	114453017	20553499	53	12481											
CHD4	1108	broad.mit.edu	37	12	6707105	6707105	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:6707105C>T	ENST00000357008.2	-	12	2010	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	CHD4_ENST00000544040.1_Missense_Mutation_p.G609E|CHD4_ENST00000544484.1_Missense_Mutation_p.G613E|CHD4_ENST00000309577.6_Missense_Mutation_p.G616E	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	616					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.G616E(1)		central_nervous_system(2)	2						GGGTTTTATCCCATAGCGATA	0.522																																					Colon(32;586 792 4568 16848 45314)											1	Substitution - Missense(1)	ovary(1)	12											176	175	176					12																	6707105		2203	4300	6503	6577366	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1847G>A	12.37:g.6707105C>T	ENSP00000349508:p.Gly616Glu		6577366	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488272	0.84854	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	3.83	3.83	0.44106	Chromo domain-like (1);	0.000000	0.85682	D	0.000000	D	0.86460	0.5938	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.90120	0.4198	10	0.87932	D	0	0.0017	15.927	0.79624	0.0:1.0:0.0:0.0	.	616;616;609	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	E	613;609;616;616;590	ENSP00000440392:G613E;ENSP00000440542:G609E;ENSP00000312419:G616E;ENSP00000349508:G616E	ENSP00000312419:G616E	G	-	2	0	CHD4	6577366	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.625000	0.83145	1.967000	0.57214	0.467000	0.42956	GGG		0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		T	6707105	C	T	6707105	3	4	218	1	0	0	0	0	1	0	0	0	3327	623	22	2	4007	2	CHD4	12	6707105	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08		6707105	127144790	54	12482											
TAS2R46	259292	broad.mit.edu	37	12	11214529	11214529	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:11214529T>C	ENST00000533467.1	-	1	364	c.365A>G	c.(364-366)aAg>aGg	p.K122R	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	122					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.K122R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AACTCTCCTCTTTAAGTGAAG	0.363																																																1	Substitution - Missense(1)	ovary(1)	12											91	95	93					12																	11214529		2022	4205	6227	11105796	SO:0001583	missense	259292			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.365A>G	12.37:g.11214529T>C	ENSP00000436450:p.Lys122Arg		11105796	P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372099	0.42003	.	.	ENSG00000226761	ENST00000533467	T	0.01323	5.01	2.54	2.54	0.30619	.	.	.	.	.	T	0.04137	0.0115	M	0.79614	2.46	0.09310	N	1	P	0.43314	0.803	P	0.47827	0.558	T	0.20273	-1.0280	9	0.72032	D	0.01	.	8.5923	0.33695	0.0:0.0:0.0:1.0	.	122	P59540	T2R46_HUMAN	R	122	ENSP00000436450:K122R	ENSP00000436450:K122R	K	-	2	0	TAS2R46	11105796	0.151000	0.22747	0.005000	0.12908	0.097000	0.18754	1.499000	0.35671	1.189000	0.43028	0.163000	0.16589	AAG		0.363	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		C	11214529	T	C	11214529	3	2	218	1	0	0	0	0	1	0	0	0	15582	1609	56	4	568	4	TAS2R46	12	11214529	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08	4507424	11214529	122637366	55	12483											
SOX5	6660	broad.mit.edu	37	12	23757376	23757376	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:23757376G>A	ENST00000451604.2	-	9	1210	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	SOX5_ENST00000309359.1_Missense_Mutation_p.S357F|SOX5_ENST00000541536.1_Missense_Mutation_p.S357F|SOX5_ENST00000381381.2_Missense_Mutation_p.S357F|SOX5_ENST00000537393.1_Missense_Mutation_p.S335F|SOX5_ENST00000545921.1_Missense_Mutation_p.S360F|SOX5_ENST00000546136.1_Missense_Mutation_p.S357F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	370					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S370F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCTGGTAGGAGATACAGCAGC	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											163	133	143					12																	23757376		2203	4300	6503	23648643	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1109C>T	12.37:g.23757376G>A	ENSP00000398273:p.Ser370Phe		23648643	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657444	0.88154	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.98105	-4.7;-4.7;-4.34;-4.71;-4.72;-4.34;-4.71	6.16	6.16	0.99307	.	0.171135	0.53938	D	0.000045	D	0.98526	0.9508	M	0.76170	2.325	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.984;0.993	D;D;P	0.74348	0.956;0.983;0.904	D	0.97379	0.9981	10	0.20046	T	0.44	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	335;357;370	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	F	357;357;357;370;322;335;357;360	ENSP00000437487:S357F;ENSP00000308927:S357F;ENSP00000370788:S357F;ENSP00000398273:S370F;ENSP00000439832:S335F;ENSP00000441973:S357F;ENSP00000443520:S360F	ENSP00000308927:S357F	S	-	2	0	SOX5	23648643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.241000	0.89816	2.937000	0.99478	0.650000	0.86243	TCT		0.502	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		A	23757376	G	A	23757376	3	1	218	1	0	0	0	0	1	0	0	0	14957	942	33	2	1220	2	SOX5	12	23757376	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	12542847	23757376	110094519	56	12484											
POU6F1	5463	broad.mit.edu	37	12	51584194	51584194	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:51584194C>A	ENST00000389243.4	-	11	1681	c.742G>T	c.(742-744)Gct>Tct	p.A248S	POU6F1_ENST00000550824.1_Missense_Mutation_p.A248S|POU6F1_ENST00000333640.10_Missense_Mutation_p.A248S			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	248					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A248S(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GCATTGAGAGCCTCTATGGCC	0.572																																																1	Substitution - Missense(1)	ovary(1)	12											116	115	115					12																	51584194		2203	4300	6503	49870461	SO:0001583	missense	5463			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"Homeoboxes / POU class"	9224	protein-coding gene	gene with protein product			"POU domain, class 6, transcription factor 1"			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.742G>T	12.37:g.51584194C>A	ENSP00000373895:p.Ala248Ser		49870461	Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270415	0.59540	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.96334	-3.98;-3.98;-3.98	5.43	4.53	0.55603	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.054356	0.85682	D	0.000000	D	0.92593	0.7647	N	0.25031	0.7	0.46586	D	0.999113	B	0.14805	0.011	B	0.21546	0.035	D	0.89101	0.3489	10	0.56958	D	0.05	.	14.4889	0.67637	0.1483:0.8517:0.0:0.0	.	248	Q14863	PO6F1_HUMAN	S	248	ENSP00000373895:A248S;ENSP00000330190:A248S;ENSP00000448389:A248S	ENSP00000330190:A248S	A	-	1	0	POU6F1	49870461	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.450000	0.35134	1.272000	0.44329	0.561000	0.74099	GCT		0.572	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		A	51584194	C	A	51584194	3	1	218	1	0	0	0	0	1	0	0	0	12284	739	26	3	167	3	POU6F1	12	51584194	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	27826818	51584194	82267701	57	12485											
SLC4A8	9498	broad.mit.edu	37	12	51868222	51868222	+	Silent	SNP	G	G	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:51868222G>T	ENST00000453097.2	+	15	2218	c.2001G>T	c.(1999-2001)ctG>ctT	p.L667L	SLC4A8_ENST00000514353.3_Silent_p.L614L|SLC4A8_ENST00000358657.3_Silent_p.L694L|SLC4A8_ENST00000535225.2_Silent_p.L614L|SLC4A8_ENST00000394856.1_Silent_p.L614L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.L667L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGGCTAACCTGACTGTCAGTG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	12											146	101	116					12																	51868222		2203	4300	6503	50154489	SO:0001819	synonymous_variant	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2001G>T	12.37:g.51868222G>T			50154489		Silent	SNP	ENST00000453097.2	37	CCDS44890.1																																																																																				0.522	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		T	51868222	G	T	51868222	2	4	218	1	0	0	0	0	0	0	0	1	14662	1277	45	3		3	SLC4A8	12	51868222	Silent	SNP	G	TCGA-24-1422-01A-01W-0545-08	284028	51868222	81983673	58	12486											
ZNF385A	25946	broad.mit.edu	37	12	54765326	54765326	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:54765326G>A	ENST00000338010.5	-	5	648	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000551771.1_Intron|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Missense_Mutation_p.R179W|ZNF385A_ENST00000546970.1_Missense_Mutation_p.R179W|ZNF385A_ENST00000394313.2_Missense_Mutation_p.R179W	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	199	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R179W(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TAGAGCAGCCGCTTGGCTTTC	0.597																																																2	Substitution - Missense(2)	ovary(2)	12											101	99	100					12																	54765326		2203	4300	6503	53051593	SO:0001583	missense	25946			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.595C>T	12.37:g.54765326G>A	ENSP00000338927:p.Arg199Trp		53051593	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	ENST00000338010.5	37	CCDS44911.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213576	0.58452	.	.	ENSG00000161642	ENST00000551109;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000546919;ENST00000549937;ENST00000549962	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	3.07	0.927	0.19437	Zinc finger, U1-type (1);	0.074595	0.52532	D	0.000069	T	0.40272	0.1110	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.63488	0.915;0.824;0.824	T	0.40059	-0.9583	10	0.87932	D	0	-7.0529	8.0657	0.30659	0.0:0.0:0.4163:0.5836	.	179;179;179	F8VRY0;Q96PM9;F1T0F1	.;Z385A_HUMAN;.	W	179;179;199;179;179;207;162	ENSP00000449161:R179W;ENSP00000377849:R179W;ENSP00000338927:R199W;ENSP00000446913:R179W;ENSP00000448466:R179W;ENSP00000448567:R207W;ENSP00000450149:R162W	ENSP00000338927:R199W	R	-	1	2	ZNF385A	53051593	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.617000	0.36943	0.602000	0.29896	-0.538000	0.04264	CGG		0.597	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		A	54765326	G	A	54765326	3	1	218	1	0	0	0	0	1	0	0	0	17876	1086	38	1	581	1	ZNF385A	12	54765326	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	2897104	54765326	79086569	59	12487											
TAC3	6866	broad.mit.edu	37	12	57407449	57407449	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:57407449G>T	ENST00000458521.2	-	3	280	c.121C>A	c.(121-123)Cca>Aca	p.P41T	TAC3_ENST00000415231.1_Missense_Mutation_p.P41T|TAC3_ENST00000441881.1_Missense_Mutation_p.P41T	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	41					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.P41T(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TAGAGATCTGGATCCCTCTAG	0.567																																																1	Substitution - Missense(1)	ovary(1)	12											42	44	43					12																	57407449		2203	4300	6503	55693716	SO:0001583	missense	6866			AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"Endogenous ligands"	11521	protein-coding gene	gene with protein product	"preprotachykinin-B"	162330	"neuromedin K", "neurokinin beta"	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.121C>A	12.37:g.57407449G>T	ENSP00000404056:p.Pro41Thr		55693716	Q6IAG2|Q71BC6|Q71BC9	Missense_Mutation	SNP	ENST00000458521.2	37	CCDS8928.1	.	.	.	.	.	.	.	.	.	.	G	2.962	-0.214450	0.06101	.	.	ENSG00000166863	ENST00000458521;ENST00000441881;ENST00000415231	D;T;D	0.82255	-1.59;-1.01;-1.59	6.02	-7.9	0.01169	.	1.881030	0.02105	N	0.054272	T	0.60573	0.2279	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.003	T	0.57412	-0.7816	10	0.10636	T	0.68	3.4784	1.4398	0.02352	0.2086:0.2378:0.3434:0.2102	.	41;41	Q9UHF0;Q9UHF0-3	TKNK_HUMAN;.	T	41	ENSP00000404056:P41T;ENSP00000408208:P41T;ENSP00000402995:P41T	ENSP00000300108:P41T	P	-	1	0	TAC3	55693716	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.519000	0.02243	-1.840000	0.01184	-1.251000	0.01509	CCA		0.567	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		T	57407449	G	T	57407449	3	4	218	1	0	0	0	0	1	0	0	0	15499	1174	41	3	260	3	TAC3	12	57407449	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	2642123	57407449	76444446	60	12488											
LRP1	4035	broad.mit.edu	37	12	57587774	57587774	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:57587774G>A	ENST00000243077.3	+	48	8363	c.7897G>A	c.(7897-7899)Gcc>Acc	p.A2633T	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2633	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.A2633T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGTGAGGACGCCTCAGATGA	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											107	103	104					12																	57587774		2203	4300	6503	55874041	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7897G>A	12.37:g.57587774G>A	ENSP00000243077:p.Ala2633Thr		55874041	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216536	0.58452	.	.	ENSG00000123384	ENST00000243077	D	0.95518	-3.73	5.0	5.0	0.66597	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.96753	0.8940	L	0.49640	1.575	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96704	0.9520	10	0.51188	T	0.08	.	17.231	0.86984	0.0:0.0:1.0:0.0	.	2633	Q07954	LRP1_HUMAN	T	2633	ENSP00000243077:A2633T	ENSP00000243077:A2633T	A	+	1	0	LRP1	55874041	1.000000	0.71417	0.998000	0.56505	0.355000	0.29361	5.438000	0.66550	2.586000	0.87340	0.563000	0.77884	GCC		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57587774	G	A	57587774	3	1	218	1	0	0	0	0	1	0	0	0	8951	1087	38	1	8087	1	LRP1	12	57587774	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	180325	57587774	76264121	61	12489											
TRPV4	59341	broad.mit.edu	37	12	110240898	110240898	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:110240898T>A	ENST00000418703.2	-	3	704	c.610A>T	c.(610-612)Aat>Tat	p.N204Y	TRPV4_ENST00000541794.1_Missense_Mutation_p.N204Y|TRPV4_ENST00000392719.2_Missense_Mutation_p.N204Y|TRPV4_ENST00000261740.2_Missense_Mutation_p.N204Y|TRPV4_ENST00000544971.1_Missense_Mutation_p.N204Y|TRPV4_ENST00000537083.1_Missense_Mutation_p.N204Y|TRPV4_ENST00000536838.1_Missense_Mutation_p.N170Y|TRPV4_ENST00000346520.2_Missense_Mutation_p.N204Y	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	204					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.N204Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTGCGGCCATTGCTCAGGTTC	0.577																																																1	Substitution - Missense(1)	ovary(1)	12											128	101	110					12																	110240898		2203	4300	6503	108725281	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.610A>T	12.37:g.110240898T>A	ENSP00000406191:p.Asn204Tyr		108725281	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.392097	0.25118	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89875	-2.55;-2.55;-2.4;-2.58;-2.41;-2.58;-2.4;-2.55	4.51	-1.05	0.10036	.	1.084340	0.06861	N	0.799043	D	0.83358	0.5237	L	0.48642	1.525	0.09310	N	1	P;P;P;P;P	0.46952	0.856;0.767;0.887;0.548;0.647	B;B;B;B;B	0.42030	0.215;0.116;0.298;0.275;0.373	T	0.72001	-0.4422	10	0.35671	T	0.21	-8.6135	5.5277	0.16967	0.0:0.1699:0.4634:0.3668	.	204;204;204;204;170	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	Y	204;204;204;204;204;204;204;170	ENSP00000406191:N204Y;ENSP00000261740:N204Y;ENSP00000376480:N204Y;ENSP00000319003:N204Y;ENSP00000443611:N204Y;ENSP00000442738:N204Y;ENSP00000442167:N204Y;ENSP00000444336:N170Y	ENSP00000261740:N204Y	N	-	1	0	TRPV4	108725281	0.000000	0.05858	0.129000	0.21949	0.488000	0.33401	0.262000	0.18460	-0.085000	0.12573	0.459000	0.35465	AAT		0.577	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		A	110240898	T	A	110240898	3	1	218	1	0	0	0	0	1	0	0	0	16598	1812	63	5	2057	5	TRPV4	12	110240898	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08	52653124	110240898	23610997	62	12490											
ACAD10	80724	broad.mit.edu	37	12	112147427	112147427	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr12:112147427T>G	ENST00000313698.4	+	5	784	c.629T>G	c.(628-630)tTt>tGt	p.F210C	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.F210C|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.F210C	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	210						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.F210C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GAGTCCATCTTTCTTGATGAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											79	79	79					12																	112147427		2203	4300	6503	110631810	SO:0001583	missense	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.629T>G	12.37:g.112147427T>G	ENSP00000325137:p.Phe210Cys		110631810	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294235	0.81025	.	.	ENSG00000111271	ENST00000509936;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000507135;ENST00000313698	T;T;T	0.09630	2.96;2.96;2.96	5.74	5.74	0.90152	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.64402	D	0.000004	T	0.40546	0.1121	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.999;0.999;1.0	D;D;D;D;D	0.79108	0.913;0.992;0.967;0.944;0.992	T	0.47368	-0.9123	10	0.87932	D	0	.	15.6835	0.77391	0.0:0.0:0.0:1.0	.	210;210;210;210;210	G3XAJ0;F8VZG7;Q6JQN1;Q6JQN1-2;Q6JQN1-4	.;.;ACD10_HUMAN;.;.	C	210	ENSP00000446959:F210C;ENSP00000389813:F210C;ENSP00000325137:F210C	ENSP00000325137:F210C	F	+	2	0	ACAD10	110631810	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.571000	0.67404	2.185000	0.69588	0.459000	0.35465	TTT		0.478	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		G	112147427	T	G	112147427	3	3	218	1	0	0	0	0	1	0	0	0	108	1841	64	5	643	5	ACAD10	12	112147427	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08	1906529	112147427	21704468	63	12491											
TM9SF2	9375	broad.mit.edu	37	13	100207864	100207864	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr13:100207864C>T	ENST00000376387.4	+	15	1905	c.1715C>T	c.(1714-1716)gCa>gTa	p.A572V		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	572					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.A572V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TGTTCTGAAGCAACTATACTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	13											253	216	229					13																	100207864		2202	4300	6502	99005865	SO:0001583	missense	9375			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1715C>T	13.37:g.100207864C>T	ENSP00000365567:p.Ala572Val		99005865	A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867436	0.72065	.	.	ENSG00000125304	ENST00000376387	T	0.32272	1.46	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	N	0.03000	-0.44	0.80722	D	1	B;B	0.14012	0.009;0.004	B;B	0.12156	0.007;0.007	T	0.17137	-1.0379	10	0.09084	T	0.74	-22.5112	20.1467	0.98079	0.0:1.0:0.0:0.0	.	538;572	E9PHW5;Q99805	.;TM9S2_HUMAN	V	572	ENSP00000365567:A572V	ENSP00000365567:A572V	A	+	2	0	TM9SF2	99005865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.838000	0.97847	0.655000	0.94253	GCA		0.343	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			T	100207864	C	T	100207864	3	4	218	1	0	0	0	0	1	0	0	0	15978	710	25	2	1773	2	TM9SF2	13	100207864	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08		100207864	14962014	64	12492											
PTPN21	11099	broad.mit.edu	37	14	88946519	88946519	+	Missense_Mutation	SNP	G	G	T	rs146978840		TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr14:88946519G>T	ENST00000556564.1	-	13	1540	c.1256C>A	c.(1255-1257)cCt>cAt	p.P419H	PTPN21_ENST00000328736.3_Missense_Mutation_p.P419H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	419					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.P419H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTGATGCTAGGGTTGGACGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	14											112	66	81					14																	88946519		2203	4300	6503	88016272	SO:0001583	missense	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1256C>A	14.37:g.88946519G>T	ENSP00000452414:p.Pro419His		88016272		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185905	0.78789	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.73469	-0.75;-0.75	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	M	0.71581	2.175	0.52099	D	0.999949	D	0.89917	1.0	D	0.91635	0.999	D	0.85282	0.1062	10	0.45353	T	0.12	.	19.3874	0.94563	0.0:0.0:1.0:0.0	.	419	Q16825	PTN21_HUMAN	H	419	ENSP00000330276:P419H;ENSP00000452414:P419H	ENSP00000330276:P419H	P	-	2	0	PTPN21	88016272	1.000000	0.71417	0.924000	0.36721	0.820000	0.46376	8.062000	0.89475	2.590000	0.87494	0.561000	0.74099	CCT		0.592	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			T	88946519	G	T	88946519	3	4	218	1	0	0	0	0	1	0	0	0	12789	1000	35	3	2296	3	PTPN21	14	88946519	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08		88946519	18403021	65	12493											
LCTL	197021	broad.mit.edu	37	15	66850069	66850069	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr15:66850069C>T	ENST00000341509.5	-	8	1044	c.913G>A	c.(913-915)Gac>Aac	p.D305N	LCTL_ENST00000537670.1_Missense_Mutation_p.D132N	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	305					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.D305N(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAATGTAGTCCTTCATGACT	0.502																																																1	Substitution - Missense(1)	ovary(1)	15											81	83	82					15																	66850069		2201	4299	6500	64637123	SO:0001583	missense	197021			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.913G>A	15.37:g.66850069C>T	ENSP00000343490:p.Asp305Asn		64637123	B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871528	0.51695	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.51817	0.69;1.55	5.44	5.44	0.79542	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.335667	0.37530	N	0.002059	T	0.37758	0.1015	L	0.38175	1.15	0.54753	D	0.999988	B;B	0.14012	0.004;0.009	B;B	0.17098	0.009;0.017	T	0.14504	-1.0470	10	0.33141	T	0.24	-21.5001	11.6285	0.51160	0.0:0.91:0.0:0.09	.	132;305	B3KQY0;Q6UWM7	.;LCTL_HUMAN	N	132;305	ENSP00000445419:D132N;ENSP00000343490:D305N	ENSP00000343490:D305N	D	-	1	0	LCTL	64637123	1.000000	0.71417	0.996000	0.52242	0.761000	0.43186	3.474000	0.53129	2.558000	0.86282	0.655000	0.94253	GAC		0.502	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		T	66850069	C	T	66850069	3	4	218	1	0	0	0	0	1	0	0	0	8694	855	30	2	814	2	LCTL	15	66850069	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08		66850069	35681323	66	12494											
HYDIN	54768	broad.mit.edu	37	16	71026023	71026023	+	Silent	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr16:71026023T>C	ENST00000393567.2	-	24	3885	c.3735A>G	c.(3733-3735)gcA>gcG	p.A1245A	HYDIN_ENST00000448089.2_Silent_p.A1197A	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1245					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A1197A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAACTAGGATTGCTGGTGGGC	0.458																																																1	Substitution - coding silent(1)	ovary(1)	16											42	43	43					16																	71026023		1840	4088	5928	69583524	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3735A>G	16.37:g.71026023T>C			69583524	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			C	71026023	T	C	71026023	2	2	218	1	0	0	0	0	0	0	0	1	7467	1799	63	4		4	HYDIN	16	71026023	Silent	SNP	T	TCGA-24-1422-01A-01W-0545-08		71026023	19328730	67	12495											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	7518264	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	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	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	218	1	0	0	0	0	1	0	0	0	16381	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08		7577539	73617671	68	12496											
GGNBP2	79893	broad.mit.edu	37	17	34913149	34913149	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr17:34913149A>T	ENST00000304718.4	+	4	717	c.401A>T	c.(400-402)aAg>aTg	p.K134M		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	134					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.K134M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GATGCAAAGAAGCTTTATACA	0.398																																																1	Substitution - Missense(1)	ovary(1)	17											92	87	89					17																	34913149		2203	4300	6503	31987262	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.401A>T	17.37:g.34913149A>T	ENSP00000307617:p.Lys134Met		31987262	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.184499	0.57800	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.14	5.14	0.70334	.	0.095322	0.64402	D	0.000001	T	0.50137	0.1598	L	0.43152	1.355	0.80722	D	1	B;B	0.30605	0.287;0.073	B;B	0.27380	0.079;0.059	T	0.50659	-0.8802	9	0.42905	T	0.14	-0.1148	15.2899	0.73857	1.0:0.0:0.0:0.0	.	134;134	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	M	134	.	ENSP00000307617:K134M	K	+	2	0	GGNBP2	31987262	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.496000	0.90485	2.083000	0.62718	0.477000	0.44152	AAG		0.398	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		T	34913149	A	T	34913149	3	4	218	1	0	0	0	0	1	0	0	0	6359	72	3	5	411	5	GGNBP2	17	34913149	Missense_Mutation	SNP	A	TCGA-24-1422-01A-01W-0545-08	27335610	34913149	46282061	69	12497											
NDC80	10403	broad.mit.edu	37	18	2608740	2608740	+	Silent	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr18:2608740G>A	ENST00000261597.4	+	15	1781	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	533	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E533E(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GTGAGCTTGAGTCCTTGGAGA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	18											119	111	114					18																	2608740		2203	4300	6503	2598740	SO:0001819	synonymous_variant	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1599G>A	18.37:g.2608740G>A			2598740	Q6PJX2	Silent	SNP	ENST00000261597.4	37	CCDS11827.1																																																																																				0.428	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		A	2608740	G	A	2608740	2	1	218	1	0	0	0	0	0	0	0	1	10242	1020	36	2		2	NDC80	18	2608740	Silent	SNP	G	TCGA-24-1422-01A-01W-0545-08		2608740	75468508	70	12498											
EPB41L3	23136	broad.mit.edu	37	18	5397143	5397143	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr18:5397143T>C	ENST00000341928.2	-	18	3095	c.2755A>G	c.(2755-2757)Aca>Gca	p.T919A	EPB41L3_ENST00000540638.2_Missense_Mutation_p.T697A|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T224A|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T216A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T750A|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T919A|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T697A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	919	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T919A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCAGCGGCTGTCTCTTCCTGT	0.507																																																1	Substitution - Missense(1)	ovary(1)	18											111	91	98					18																	5397143		2203	4300	6503	5387143	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2755A>G	18.37:g.5397143T>C	ENSP00000343158:p.Thr919Ala		5387143	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	0.094	-1.161774	0.01673	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.87	-0.857	0.10693	.	1.563540	0.02974	N	0.144748	T	0.15869	0.0382	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.10450	0.0;0.005;0.001;0.001;0.0;0.005;0.001;0.0	T	0.12578	-1.0542	10	0.09338	T	0.73	.	2.7623	0.05310	0.1174:0.36:0.128:0.3946	.	750;216;224;311;588;697;919;154	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	A	919;588;750;588;216;224;919;697	ENSP00000343158:T919A;ENSP00000441174:T750A;ENSP00000392195:T216A;ENSP00000442233:T224A;ENSP00000341138:T919A;ENSP00000382981:T697A	ENSP00000343158:T919A	T	-	1	0	EPB41L3	5387143	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.330000	0.07925	-0.364000	0.08088	0.482000	0.46254	ACA		0.507	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		C	5397143	T	C	5397143	3	2	218	1	0	0	0	0	1	0	0	0	5154	1667	58	4	528	4	EPB41L3	18	5397143	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08	2788403	5397143	72680105	71	12499											
LAMA3	3909	broad.mit.edu	37	18	21485530	21485530	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr18:21485530T>A	ENST00000313654.9	+	52	6901	c.6660T>A	c.(6658-6660)agT>agA	p.S2220R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.S555R|LAMA3_ENST00000269217.6_Missense_Mutation_p.S611R|LAMA3_ENST00000399516.3_Missense_Mutation_p.S2164R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2220	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S2220R(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAACCCTGAGTTCCAACAGTG	0.398																																																1	Substitution - Missense(1)	ovary(1)	18											125	118	121					18																	21485530		2203	4300	6503	19739528	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6660T>A	18.37:g.21485530T>A	ENSP00000324532:p.Ser2220Arg		19739528	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	9.175	1.022186	0.19433	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.25579	2.31;2.31;1.79	5.0	2.58	0.30949	.	.	.	.	.	T	0.22704	0.0548	L	0.57536	1.79	0.38822	D	0.955656	D;D;B;P	0.54964	0.961;0.969;0.44;0.749	P;P;B;B	0.49752	0.541;0.621;0.169;0.282	T	0.45600	-0.9250	9	0.07175	T	0.84	.	1.3311	0.02135	0.1336:0.1629:0.2312:0.4723	.	555;611;2164;2220	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	R	2220;2164;611	ENSP00000324532:S2220R;ENSP00000382432:S2164R;ENSP00000269217:S611R	ENSP00000269217:S611R	S	+	3	2	LAMA3	19739528	0.859000	0.29813	0.994000	0.49952	0.928000	0.56348	0.194000	0.17135	0.865000	0.35603	0.533000	0.62120	AGT		0.398	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21485530	T	A	21485530	3	1	218	1	0	0	0	0	1	0	0	0	8607	1722	60	5	7041	5	LAMA3	18	21485530	Missense_Mutation	SNP	T	TCGA-24-1422-01A-01W-0545-08	16088387	21485530	56591718	72	12500											
KIAA1012	22878	broad.mit.edu	37	18	29432581	29432581	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr18:29432581G>C	ENST00000283351.4	-	23	3814	c.3479C>G	c.(3478-3480)gCa>gGa	p.A1160G	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.A1106G	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1160					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.A1160G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATCTTATTGCCTTAAAGCA	0.308																																																1	Substitution - Missense(1)	ovary(1)	18											188	205	199					18																	29432581		2203	4300	6503	27686579	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3479C>G	18.37:g.29432581G>C	ENSP00000283351:p.Ala1160Gly		27686579	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	9.886	1.202987	0.22121	.	.	ENSG00000153339	ENST00000283351	T	0.18338	2.22	5.78	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	M	0.69823	2.125	0.80722	D	1	B	0.26363	0.147	B	0.28849	0.095	T	0.02860	-1.1101	10	0.22109	T	0.4	.	14.6026	0.68450	0.0698:0.0:0.9302:0.0	.	1160	Q9Y2L5	TPPC8_HUMAN	G	1160	ENSP00000283351:A1160G	ENSP00000283351:A1160G	A	-	2	0	TRAPPC8	27686579	1.000000	0.71417	0.978000	0.43139	0.299000	0.27559	6.795000	0.75140	1.448000	0.47680	0.585000	0.79938	GCA		0.308	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		C	29432581	G	C	29432581	3	2	218	1	0	0	0	0	1	0	0	0	8204	1319	46	3	856	3	KIAA1012	18	29432581	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	7947051	29432581	48644667	73	12501											
FBXO15	201456	broad.mit.edu	37	18	71793283	71793283	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr18:71793283G>C	ENST00000419743.2	-	6	918	c.839C>G	c.(838-840)tCt>tGt	p.S280C	FBXO15_ENST00000269500.5_Missense_Mutation_p.S204C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	280						SCF ubiquitin ligase complex (GO:0019005)		p.S204C(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AATCATGGTAGATATGGTCAA	0.468																																																1	Substitution - Missense(1)	ovary(1)	18											135	119	124					18																	71793283		2203	4300	6503	69944263	SO:0001583	missense	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.839C>G	18.37:g.71793283G>C	ENSP00000393154:p.Ser280Cys		69944263	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	2.033	-0.421937	0.04734	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.49432	0.79;0.78	5.4	3.51	0.40186	.	0.497540	0.23289	N	0.049814	T	0.61098	0.2320	M	0.76574	2.34	0.09310	N	1	D;D	0.76494	0.999;0.997	P;P	0.55667	0.781;0.751	T	0.57370	-0.7823	10	0.40728	T	0.16	-25.6906	14.7082	0.69208	0.0:0.2765:0.7235:0.0	.	280;204	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	204;280	ENSP00000269500:S204C;ENSP00000393154:S280C	ENSP00000269500:S204C	S	-	2	0	FBXO15	69944263	0.000000	0.05858	0.004000	0.12327	0.048000	0.14542	0.177000	0.16801	0.686000	0.31488	0.650000	0.86243	TCT		0.468	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		C	71793283	G	C	71793283	3	2	218	1	0	0	0	0	1	0	0	0	5728	942	33	3	713	3	FBXO15	18	71793283	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08	42360702	71793283	6283965	74	12502											
MUC16	94025	broad.mit.edu	37	19	9011463	9011463	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr19:9011463C>T	ENST00000397910.4	-	36	38973	c.38770G>A	c.(38770-38772)Gat>Aat	p.D12924N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12926	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D76N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGATGGCATCCATTCCAGTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											148	132	137					19																	9011463		1928	4133	6061	8872463	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38770G>A	19.37:g.9011463C>T	ENSP00000381008:p.Asp12924Asn		8872463	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.574738	0.45902	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.35048	1.33	2.94	2.94	0.34122	.	.	.	.	.	T	0.62816	0.2459	M	0.89658	3.05	.	.	.	D	0.71674	0.998	D	0.72338	0.977	T	0.75895	-0.3156	8	0.87932	D	0	-14.2633	9.9835	0.41828	0.0:1.0:0.0:0.0	.	12924	B5ME49	.	N	12924;77	ENSP00000381008:D12924N	ENSP00000381008:D12924N	D	-	1	0	MUC16	8872463	0.384000	0.25164	0.034000	0.17996	0.025000	0.11179	1.980000	0.40618	1.589000	0.49982	0.305000	0.20034	GAT		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9011463	C	T	9011463	3	4	218	1	0	0	0	0	1	0	0	0	9973	855	30	2	4949	2	MUC16	19	9011463	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08		9011463	50117520	75	12503											
RDH8	50700	broad.mit.edu	37	19	10124252	10124252	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr19:10124252C>G	ENST00000171214.1	+	1	328	c.79C>G	c.(79-81)Cat>Gat	p.H27D	RDH8_ENST00000591589.1_Missense_Mutation_p.H47D	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	27					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.H27D(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCAACTGGCCCATGACCCCAA	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											87	80	82					19																	10124252		2203	4300	6503	9985252	SO:0001583	missense	50700			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.79C>G	19.37:g.10124252C>G	ENSP00000171214:p.His27Asp		9985252	Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37		.	.	.	.	.	.	.	.	.	.	C	10.24	1.296838	0.23650	.	.	ENSG00000080511	ENST00000171214	D	0.92495	-3.05	4.93	3.82	0.43975	NAD(P)-binding domain (1);	0.558425	0.17597	N	0.168560	T	0.76608	0.4011	N	0.01656	-0.775	0.25398	N	0.988469	B	0.14805	0.011	B	0.21360	0.034	T	0.63915	-0.6529	10	0.15499	T	0.54	.	9.7545	0.40496	0.3331:0.6669:0.0:0.0	.	27	Q9NYR8	RDH8_HUMAN	D	27	ENSP00000171214:H27D	ENSP00000171214:H27D	H	+	1	0	RDH8	9985252	0.005000	0.15991	0.875000	0.34327	0.774000	0.43823	1.893000	0.39758	2.283000	0.76528	0.591000	0.81541	CAT		0.612	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				G	10124252	C	G	10124252	3	3	218	1	0	0	0	0	1	0	0	0	13199	594	21	3	81	3	RDH8	19	10124252	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	1112789	10124252	49004731	76	12504											
PDCD2L	84306	broad.mit.edu	37	19	34900210	34900210	+	Missense_Mutation	SNP	C	C	G	rs61740326	byFrequency	TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr19:34900210C>G	ENST00000246535.3	+	4	528	c.481C>G	c.(481-483)Cgg>Ggg	p.R161G	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	161					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R161G(1)		breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGGACTGCTCGGCTCCAAGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	19											124	110	115					19																	34900210		2203	4300	6503	39592050	SO:0001583	missense	84306			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.481C>G	19.37:g.34900210C>G	ENSP00000246535:p.Arg161Gly		39592050		Missense_Mutation	SNP	ENST00000246535.3	37	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493766	0.44352	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.8	3.62	0.41486	.	0.463430	0.26677	N	0.023076	T	0.18800	0.0451	N	0.14661	0.345	0.23628	N	0.997251	B	0.29612	0.251	B	0.28465	0.09	T	0.15521	-1.0434	9	0.20046	T	0.44	-6.0154	8.4839	0.33061	0.1557:0.7642:0.0:0.0801	.	161	Q9BRP1	PDD2L_HUMAN	G	161	.	ENSP00000246535:R161G	R	+	1	2	PDCD2L	39592050	0.937000	0.31787	0.751000	0.31187	0.012000	0.07955	1.908000	0.39907	1.397000	0.46682	0.650000	0.86243	CGG		0.572	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		G	34900210	C	G	34900210	3	3	218	1	0	0	0	0	1	0	0	0	11620	875	31	3	495	3	PDCD2L	19	34900210	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	24775958	34900210	24228773	77	12505											
GGT7	2686	broad.mit.edu	37	20	33442336	33442336	+	Silent	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr20:33442336G>A	ENST00000336431.5	-	10	1361	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	439					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.L439L(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGACCCACCTGAGCATGTCAT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	20											50	42	45					20																	33442336		2203	4300	6503	32905997	SO:0001819	synonymous_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1317C>T	20.37:g.33442336G>A			32905997	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	CCDS13242.2																																																																																				0.532	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		A	33442336	G	A	33442336	2	1	218	1	0	0	0	0	0	0	0	1	6364	1277	45	2		2	GGT7	20	33442336	Silent	SNP	G	TCGA-24-1422-01A-01W-0545-08		33442336	29583184	78	12506											
FAM83C	128876	broad.mit.edu	37	20	33874560	33874560	+	Silent	SNP	G	G	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr20:33874560G>T	ENST00000374408.3	-	4	2118	c.2022C>A	c.(2020-2022)acC>acA	p.T674T	EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	674								p.T674T(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGTGGCCCAGGGTTAGCCGTT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	20											66	59	61					20																	33874560		2203	4300	6503	33337974	SO:0001819	synonymous_variant	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2022C>A	20.37:g.33874560G>T			33337974	Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	CCDS13251.1																																																																																				0.627	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			T	33874560	G	T	33874560	2	4	218	1	0	0	0	0	0	0	0	1	5635	1219	43	3		3	FAM83C	20	33874560	Silent	SNP	G	TCGA-24-1422-01A-01W-0545-08	432224	33874560	29150960	79	12507											
EYA2	2139	broad.mit.edu	37	20	45725729	45725729	+	Silent	SNP	G	G	C			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr20:45725729G>C	ENST00000327619.5	+	9	1184	c.810G>C	c.(808-810)gtG>gtC	p.V270V	EYA2_ENST00000357410.3_Silent_p.V270V|EYA2_ENST00000317304.6_Silent_p.V270V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	270					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.V270V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CACAGCGTGTGTTCGTGTGGG	0.423																																					Pancreas(120;56 1725 18501 25218 43520)											1	Substitution - coding silent(1)	ovary(1)	20											246	222	230					20																	45725729		2203	4300	6503	45159136	SO:0001819	synonymous_variant	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.810G>C	20.37:g.45725729G>C			45159136	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	CCDS13403.1																																																																																				0.423	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		C	45725729	G	C	45725729	2	2	218	1	0	0	0	0	0	0	0	1	5329	1364	48	3		3	EYA2	20	45725729	Silent	SNP	G	TCGA-24-1422-01A-01W-0545-08	11851169	45725729	17299791	80	12508											
TMPRSS15	5651	broad.mit.edu	37	21	19775815	19775815	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr21:19775815G>T	ENST00000284885.3	-	1	158	c.125C>A	c.(124-126)aCa>aAa	p.T42K		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	42						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.T42K(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTCCTTGATTGTCAGGCAGGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	21											141	128	132					21																	19775815		2203	4300	6503	18697686	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.125C>A	21.37:g.19775815G>T	ENSP00000284885:p.Thr42Lys		18697686	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835259	0.32421	.	.	ENSG00000154646	ENST00000284885	D	0.86694	-2.16	5.16	2.34	0.29019	.	0.629193	0.16619	N	0.206577	T	0.77418	0.4127	L	0.40543	1.245	0.24187	N	0.995567	B	0.33583	0.418	B	0.27380	0.079	T	0.63056	-0.6722	9	.	.	.	.	7.121	0.25444	0.0895:0.3333:0.5772:0.0	.	42	P98073	ENTK_HUMAN	K	42	ENSP00000284885:T42K	.	T	-	2	0	TMPRSS15	18697686	0.971000	0.33674	0.766000	0.31476	0.484000	0.33280	0.861000	0.27885	0.336000	0.23639	0.563000	0.77884	ACA		0.438	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19775815	G	T	19775815	3	4	218	1	0	0	0	0	1	0	0	0	16246	1377	48	3	3034	3	TMPRSS15	21	19775815	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08		19775815	28354080	81	12509											
ZNF74	7625	broad.mit.edu	37	22	20759703	20759703	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chr22:20759703G>A	ENST00000400451.2	+	5	894	c.380G>A	c.(379-381)gGc>gAc	p.G127D	ZNF74_ENST00000356671.5_Missense_Mutation_p.G127D|ZNF74_ENST00000405993.1_Missense_Mutation_p.G95D|ZNF74_ENST00000403682.3_Silent_p.G98G|ZNF74_ENST00000357502.5_Silent_p.G132G	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	127					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G127D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAACAGCAGGGCATTTGCAAA	0.577																																																1	Substitution - Missense(1)	ovary(1)	22											66	72	70					22																	20759703		1883	4100	5983	19089703	SO:0001583	missense	7625			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.380G>A	22.37:g.20759703G>A	ENSP00000383301:p.Gly127Asp		19089703	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	4.448	0.083008	0.08533	.	.	ENSG00000185252	ENST00000400451;ENST00000420626;ENST00000356671;ENST00000405993	T;T;T;T	0.68903	3.49;-0.36;3.49;3.37	2.98	-5.95	0.02241	.	1.443190	0.04812	N	0.435430	T	0.37376	0.1001	N	0.20845	0.615	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41963	-0.9479	10	0.02654	T	1	-1.8416	0.5613	0.00679	0.3208:0.1361:0.3022:0.2409	.	127	Q16587	ZNF74_HUMAN	D	127;24;127;95	ENSP00000383301:G127D;ENSP00000397011:G24D;ENSP00000349098:G127D;ENSP00000385855:G95D	ENSP00000349098:G127D	G	+	2	0	ZNF74	19089703	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.026000	0.01434	-1.580000	0.01644	-0.302000	0.09304	GGC		0.577	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		A	20759703	G	A	20759703	3	1	218	1	0	0	0	0	1	0	0	0	18127	1203	42	2	398	2	ZNF74	22	20759703	Missense_Mutation	SNP	G	TCGA-24-1422-01A-01W-0545-08		20759703	30544863	82	12510											
FRMPD4	9758	broad.mit.edu	37	X	12734761	12734761	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chrX:12734761C>T	ENST00000380682.1	+	15	2689	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	728					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A728V(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTCCAGGCCGCGGAGGGGATC	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											106	108	107					X																	12734761		2203	4300	6503	12644682	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2183C>T	X.37:g.12734761C>T	ENSP00000370057:p.Ala728Val		12644682	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192817	0.38707	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.27104	1.69	5.71	5.71	0.89125	.	0.304412	0.35870	N	0.002934	T	0.28234	0.0697	M	0.63428	1.95	0.09310	N	1	B;B	0.31459	0.324;0.324	B;B	0.23852	0.049;0.049	T	0.16394	-1.0404	10	0.22706	T	0.39	.	18.8648	0.92287	0.0:1.0:0.0:0.0	.	720;728	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	V	728;719;717	ENSP00000370057:A728V	ENSP00000304583:A717V	A	+	2	0	FRMPD4	12644682	0.519000	0.26242	0.005000	0.12908	0.097000	0.18754	5.634000	0.67833	2.402000	0.81655	0.600000	0.82982	GCG		0.547	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		T	12734761	C	T	12734761	3	4	218	1	0	0	0	0	1	0	0	0	6059	768	27	1	2241	1	FRMPD4	23	12734761	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08		12734761	142535799	83	12511											
ATP11C	286410	broad.mit.edu	37	X	138813816	138813816	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1422-01A-01W-0545-08	TCGA-24-1422-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8906590e-50ab-4333-ad1d-63f1fe09ea19	559bd920-d55f-4e10-898e-99ff6a52f4dc	g.chrX:138813816C>A	ENST00000327569.3	-	29	3494	c.3396G>T	c.(3394-3396)ttG>ttT	p.L1132F	ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Intron	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1132					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L1132F(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTACCTGTTACAATACATTAG	0.363																																																1	Substitution - Missense(1)	ovary(1)	X											109	100	103					X																	138813816		2203	4299	6502	138641482	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3396G>T	X.37:g.138813816C>A	ENSP00000332756:p.Leu1132Phe		138641482	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.497|9.497	1.102112|1.102112	0.20632|0.20632	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000327569|ENST00000433868	T|.	0.07021|.	3.23|.	5.76|5.76	2.88|2.88	0.33553|0.33553	.|.	0.143104|.	0.32372|.	N|.	0.006194|.	T|T	0.24699|0.24699	0.0599|0.0599	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.03453|0.03453	-1.1035|-1.1035	10|5	0.56958|.	D|.	0.05|.	.|.	4.8416|4.8416	0.13492|0.13492	0.304:0.5366:0.0:0.1594|0.304:0.5366:0.0:0.1594	.|.	1132|.	Q8NB49|.	AT11C_HUMAN|.	F|L	1132|165	ENSP00000332756:L1132F|.	ENSP00000332756:L1132F|.	L|V	-|-	3|1	2|0	ATP11C|ATP11C	138641482|138641482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.453000|1.453000	0.35167|0.35167	0.588000|0.588000	0.29660|0.29660	0.600000|0.600000	0.82982|0.82982	TTG|GTA		0.363	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		A	138813816	C	A	138813816	3	1	218	1	0	0	0	0	1	0	0	0	1121	477	17	3	73	3	ATP11C	23	138813816	Missense_Mutation	SNP	C	TCGA-24-1422-01A-01W-0545-08	126079055	138813816	16456744	84	12512											
WASF2	10163	broad.mit.edu	37	1	27739088	27739088	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:27739088G>C	ENST00000430629.2	-	7	1017	c.802C>G	c.(802-804)Cct>Gct	p.P268A	WASF2_ENST00000536657.1_Missense_Mutation_p.P268A	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	268	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)	p.P268A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GGTGGAGGAGGCAAGTTGTCC	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											186	163	171					1																	27739088		2203	4300	6503	27611675	SO:0001583	missense	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.802C>G	1.37:g.27739088G>C	ENSP00000396211:p.Pro268Ala		27611675	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	CCDS304.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367607	0.61513	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T	0.42513	0.97	5.51	5.51	0.81932	.	0.112759	0.64402	D	0.000007	T	0.57548	0.2061	L	0.52126	1.63	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.42327	-0.9458	10	0.16896	T	0.51	-8.2485	17.3813	0.87405	0.0:0.0:1.0:0.0	.	268;268	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	A	268	ENSP00000396211:P268A	ENSP00000396211:P268A	P	-	1	0	WASF2	27611675	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.964000	0.56780	2.868000	0.98415	0.557000	0.71058	CCT		0.488	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		C	27739088	G	C	27739088	3	2	219	1	0	0	0	0	1	0	0	0	17253	1203	42	3	706	3	WASF2	1	27739088	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08		27739088	221511533	1	12513											
HPCA	3208	broad.mit.edu	37	1	33354679	33354679	+	Silent	SNP	C	C	T	rs555055449		TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:33354679C>T	ENST00000373467.3	+	2	282	c.180C>T	c.(178-180)gaC>gaT	p.D60D	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)	p.D60D(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCTATGGTGACGCCTCCAAGT	0.537													C|||	1	0.000199681	0	0	5008	,	,		20285	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1											122	107	112					1																	33354679		2203	4300	6503	33127266	SO:0001819	synonymous_variant	3208			BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"EF-hand domain containing"	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.180C>T	1.37:g.33354679C>T			33127266	B2R9T3|D3DPQ7|P32076|P41211|P70510	Silent	SNP	ENST00000373467.3	37	CCDS370.1																																																																																				0.537	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		T	33354679	C	T	33354679	2	4	219	1	0	0	0	0	0	0	0	1	7329	535	19	1		1	HPCA	1	33354679	Silent	SNP	C	TCGA-24-1423-01A-01W-0545-08	5615591	33354679	215895942	2	12514											
CSF3R	1441	broad.mit.edu	37	1	36937230	36937230	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:36937230T>A	ENST00000373106.1	-	10	1636	c.1089A>T	c.(1087-1089)gaA>gaT	p.E363D	CSF3R_ENST00000338937.5_Missense_Mutation_p.E363D|CSF3R_ENST00000373103.1_Missense_Mutation_p.E363D|CSF3R_ENST00000440588.2_Missense_Mutation_p.E363D|CSF3R_ENST00000331941.5_Missense_Mutation_p.E363D|CSF3R_ENST00000373104.1_Missense_Mutation_p.E363D|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.E363D|CSF3R_ENST00000418048.2_Missense_Mutation_p.E363D	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	363	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.E363D(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCCGCTGTCTTCCTCCAGGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											69	70	70					1																	36937230		2203	4300	6503	36709817	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1089A>T	1.37:g.36937230T>A	ENSP00000362198:p.Glu363Asp		36709817		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.229706	0.58777	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.2	2.84	0.33178	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.499432	0.23373	N	0.048888	T	0.25938	0.0632	M	0.68952	2.095	0.09310	N	1	D;P;P;P	0.58268	0.982;0.925;0.877;0.95	P;P;B;P	0.54889	0.734;0.54;0.339;0.763	T	0.06716	-1.0811	10	0.25106	T	0.35	-0.2462	7.1816	0.25776	0.0:0.187:0.0:0.813	.	363;363;363;363	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	D	363	ENSP00000362198:E363D;ENSP00000362196:E363D;ENSP00000362195:E363D;ENSP00000355406:E363D;ENSP00000332180:E363D;ENSP00000401588:E363D;ENSP00000345013:E363D;ENSP00000397568:E363D	ENSP00000332180:E363D	E	-	3	2	CSF3R	36709817	0.003000	0.15002	0.377000	0.26055	0.806000	0.45545	0.042000	0.13949	0.821000	0.34540	0.459000	0.35465	GAA		0.592	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		A	36937230	T	A	36937230	3	1	219	1	0	0	0	0	1	0	0	0	3937	1606	56	5	1643	5	CSF3R	1	36937230	Missense_Mutation	SNP	T	TCGA-24-1423-01A-01W-0545-08	3582551	36937230	212313391	3	12515											
SFRS11	9295	broad.mit.edu	37	1	70716465	70716465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:70716465G>T	ENST00000370950.3	+	13	1514	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*	SRSF11_ENST00000370949.1_Nonsense_Mutation_p.E418*|SRSF11_ENST00000370951.1_Nonsense_Mutation_p.E477*|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Nonsense_Mutation_p.E478*			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	478					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E478*(1)		large_intestine(3)|ovary(2)|skin(1)	6						TCATCATGAAGAAGACATGGA	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	1											94	86	88					1																	70716465		2203	4300	6503	70489053	SO:0001587	stop_gained	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1432G>T	1.37:g.70716465G>T	ENSP00000359988:p.Glu478*		70489053	Q5T758|Q8IWE6	Nonsense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891896	0.91889	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000370949	.	.	.	5.46	4.55	0.56014	.	0.050571	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	14.6219	0.68592	0.0704:0.0:0.9296:0.0	.	.	.	.	X	477;478;478;418	.	ENSP00000359987:E418X	E	+	1	0	SRSF11	70489053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.188000	0.94921	1.464000	0.47987	0.455000	0.32223	GAA		0.398	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		T	70716465	G	T	70716465	4	4	219	1	0	0	0	0	0	1	0	0	14169	943	33	3	1478	3	SFRS11	1	70716465	Nonsense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	33779235	70716465	178534156	4	12516											
NES	10763	broad.mit.edu	37	1	156641264	156641264	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:156641264G>C	ENST00000368223.3	-	4	2848	c.2716C>G	c.(2716-2718)Cca>Gca	p.P906A		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	906	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). {ECO:0000305}.	brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.P906A(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTCCTCTGGAGATCTCAAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											73	80	77					1																	156641264		2203	4300	6503	154907888	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2716C>G	1.37:g.156641264G>C	ENSP00000357206:p.Pro906Ala		154907888	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087590	0.55968	.	.	ENSG00000132688	ENST00000368223	D	0.86030	-2.06	5.45	1.03	0.20045	.	.	.	.	.	T	0.63838	0.2545	L	0.48642	1.525	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.58216	-0.7675	9	0.62326	D	0.03	.	5.0888	0.14696	0.2011:0.364:0.4348:0.0	.	906	P48681	NEST_HUMAN	A	906	ENSP00000357206:P906A	ENSP00000357206:P906A	P	-	1	0	NES	154907888	0.001000	0.12720	0.000000	0.03702	0.954000	0.61252	0.522000	0.22909	0.244000	0.21351	0.563000	0.77884	CCA		0.493	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		C	156641264	G	C	156641264	3	2	219	1	0	0	0	0	1	0	0	0	10337	1174	41	3	2153	3	NES	1	156641264	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	85924799	156641264	92609357	5	12517											
CCDC19	25790	broad.mit.edu	37	1	159858244	159858244	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:159858244G>C	ENST00000368099.4	-	4	379	c.315C>G	c.(313-315)agC>agG	p.S105R	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Missense_Mutation_p.S20R	NM_012337.2	NP_036469.2												p.S105R(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACTCCTCAGGGCTGATGATTA	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											88	88	88					1																	159858244		2203	4300	6503	158124868	SO:0001583	missense	25790																														ENST00000368099.4:c.315C>G	1.37:g.159858244G>C	ENSP00000357079:p.Ser105Arg		158124868		Missense_Mutation	SNP	ENST00000368099.4	37	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220259	0.58560	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.47528	0.84;0.89	5.35	1.83	0.25207	.	0.151633	0.64402	D	0.000016	T	0.42966	0.1226	M	0.65975	2.015	0.34882	D	0.744685	D;D	0.69078	0.997;0.993	P;P	0.59288	0.855;0.855	T	0.41215	-0.9521	9	.	.	.	-22.0943	7.6684	0.28445	0.4124:0.0:0.5876:0.0	.	105;105	A8K884;Q9UL16	.;CCD19_HUMAN	R	105;20	ENSP00000357079:S105R;ENSP00000403044:S20R	.	S	-	3	2	CCDC19	158124868	0.994000	0.37717	0.943000	0.38184	0.877000	0.50540	0.155000	0.16362	0.166000	0.19597	-0.137000	0.14449	AGC		0.537	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			C	159858244	G	C	159858244	3	2	219	1	0	0	0	0	1	0	0	0	2795	1194	42	3	1376	3	CCDC19	1	159858244	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	3216980	159858244	89392377	6	12518											
NCF2	4688	broad.mit.edu	37	1	183534893	183534893	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:183534893C>T	ENST00000367535.3	-	10	1197	c.946G>A	c.(946-948)Gac>Aac	p.D316N	NCF2_ENST00000413720.1_Missense_Mutation_p.D271N|NCF2_ENST00000418089.1_Missense_Mutation_p.D235N|NCF2_ENST00000469280.1_5'Flank|NCF2_ENST00000367536.1_Missense_Mutation_p.D316N	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	316					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.D316N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GCTGGGATGTCGGACTGCGGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											79	79	79					1																	183534893		2203	4300	6503	181801516	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.946G>A	1.37:g.183534893C>T	ENSP00000356505:p.Asp316Asn		181801516	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364679	0.24684	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000419402	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.27	3.36	0.38483	Src homology-3 domain (1);	0.507534	0.23256	N	0.050184	T	0.30759	0.0775	M	0.69248	2.105	0.22280	N	0.999237	B;D;P	0.54207	0.007;0.965;0.573	B;B;B	0.43360	0.001;0.417;0.059	T	0.19549	-1.0302	10	0.45353	T	0.12	-36.5504	7.4523	0.27246	0.0:0.7192:0.1889:0.0919	.	235;271;316	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	N	316;388;271;235;316;55	ENSP00000356506:D316N;ENSP00000399294:D271N;ENSP00000407217:D235N;ENSP00000356505:D316N;ENSP00000406198:D55N	ENSP00000356505:D316N	D	-	1	0	NCF2	181801516	0.646000	0.27295	0.129000	0.21949	0.360000	0.29518	1.283000	0.33237	1.201000	0.43203	0.561000	0.74099	GAC		0.597	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		T	183534893	C	T	183534893	3	4	219	1	0	0	0	0	1	0	0	0	10217	884	31	1	658	1	NCF2	1	183534893	Missense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08	23676649	183534893	65715728	7	12519											
IGFN1	91156	broad.mit.edu	37	1	201183377	201183377	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:201183377G>T	ENST00000335211.4	+	13	8931	c.8801G>T	c.(8800-8802)tGt>tTt	p.C2934F	IGFN1_ENST00000451870.2_Missense_Mutation_p.C477F|IGFN1_ENST00000295591.8_Missense_Mutation_p.C94F	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	477						nucleus (GO:0005634)|Z disc (GO:0030018)		p.C94F(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACACTCTCCTGTACCCTCACC	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											60	47	51					1																	201183377		2203	4300	6503	199450000	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8801G>T	1.37:g.201183377G>T	ENSP00000334714:p.Cys2934Phe		199450000	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823239	0.71143	.	.	ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591	T;T;T	0.62941	-0.01;-0.01;-0.01	3.39	3.39	0.38822	.	0.000000	0.64402	U	0.000001	D	0.83732	0.5318	H	0.95294	3.65	0.53688	D	0.999979	D	0.69078	0.997	D	0.83275	0.996	D	0.88392	0.3009	10	0.72032	D	0.01	.	13.1103	0.59268	0.0:0.0:1.0:0.0	.	2934	F8WAI1	.	F	2934;477;94	ENSP00000334714:C2934F;ENSP00000398386:C477F;ENSP00000295591:C94F	ENSP00000295591:C94F	C	+	2	0	IGFN1	199450000	1.000000	0.71417	0.989000	0.46669	0.206000	0.24218	7.088000	0.76901	1.728000	0.51552	0.313000	0.20887	TGT		0.627	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201183377	G	T	201183377	3	4	219	1	0	0	0	0	1	0	0	0	7590	1377	48	3	8847	3	IGFN1	1	201183377	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	17648484	201183377	48067244	8	12520											
RPS6KC1	26750	broad.mit.edu	37	1	213414047	213414047	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:213414047G>A	ENST00000366960.3	+	11	1378	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G198S|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G113S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G398S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	410	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.G410S(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCACAGGTGGCAAACTGTG	0.308																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	1											79	91	87					1																	213414047		2203	4300	6503	211480670	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1228G>A	1.37:g.213414047G>A	ENSP00000355927:p.Gly410Ser		211480670	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309104	0.60414	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.64	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71925	-0.4445	10	0.87932	D	0	-1.6401	15.0811	0.72117	0.0686:0.0:0.9314:0.0	.	198;410;398	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	198;410;398;113	ENSP00000442306:G198S;ENSP00000355927:G410S;ENSP00000355926:G398S;ENSP00000439282:G113S	ENSP00000355926:G398S	G	+	1	0	RPS6KC1	211480670	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.040000	0.93783	1.515000	0.48885	0.557000	0.71058	GGC		0.308	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		A	213414047	G	A	213414047	3	1	219	1	0	0	0	0	1	0	0	0	13661	1348	47	2	1270	2	RPS6KC1	1	213414047	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	12230670	213414047	35836574	9	12521											
RYR2	6262	broad.mit.edu	37	1	237777820	237777820	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr1:237777820G>T	ENST00000366574.2	+	37	5709	c.5392G>T	c.(5392-5394)Gct>Tct	p.A1798S	RYR2_ENST00000360064.6_Missense_Mutation_p.A1796S|RYR2_ENST00000542537.1_Missense_Mutation_p.A1782S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1798	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A1796S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGACAGAAGCTGTTAAAGA	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											165	158	160					1																	237777820		1947	4146	6093	235844443	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5392G>T	1.37:g.237777820G>T	ENSP00000355533:p.Ala1798Ser		235844443	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659155	0.47467	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74526	-0.85;-0.85;-0.85	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000043	T	0.74959	0.3785	L	0.55481	1.735	0.80722	D	1	P	0.40050	0.7	B	0.41036	0.346	T	0.76219	-0.3039	10	0.52906	T	0.07	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1798	Q92736	RYR2_HUMAN	S	1798;1796;1782	ENSP00000355533:A1798S;ENSP00000353174:A1796S;ENSP00000443798:A1782S	ENSP00000353174:A1796S	A	+	1	0	RYR2	235844443	1.000000	0.71417	0.214000	0.23707	0.169000	0.22640	9.813000	0.99286	2.665000	0.90641	0.650000	0.86243	GCT		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237777820	G	T	237777820	3	4	219	1	0	0	0	0	1	0	0	0	13772	971	34	3	5538	3	RYR2	1	237777820	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	24363773	237777820	11472801	10	12522											
MTA3	57504	broad.mit.edu	37	2	42922935	42922935	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr2:42922935G>C	ENST00000405094.1	+	10	922	c.922G>C	c.(922-924)Gaa>Caa	p.E308Q	MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406652.1_Missense_Mutation_p.E252Q|MTA3_ENST00000406911.1_Missense_Mutation_p.E308Q|MTA3_ENST00000405592.1_Missense_Mutation_p.E252Q|MTA3_ENST00000407270.3_Missense_Mutation_p.E308Q			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	308	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E308Q(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TAGCATCATTGAATATTATTA	0.279																																																1	Substitution - Missense(1)	ovary(1)	2											38	36	37					2																	42922935		1799	4041	5840	42776439	SO:0001583	missense	57504			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.922G>C	2.37:g.42922935G>C	ENSP00000385823:p.Glu308Gln		42776439	Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37		.	.	.	.	.	.	.	.	.	.	G	15.73	2.919096	0.52546	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.01	4.13	0.48395	.	0.254563	0.39985	N	0.001210	T	0.42040	0.1185	L	0.38531	1.155	0.80722	D	1	B;P;P	0.47677	0.26;0.794;0.899	B;B;P	0.49332	0.117;0.444;0.607	T	0.22765	-1.0207	10	0.41790	T	0.15	-17.5276	13.0323	0.58848	0.0788:0.0:0.9212:0.0	.	308;308;252	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	Q	252;252;308;308;308;308	ENSP00000383973:E252Q;ENSP00000384249:E252Q;ENSP00000385045:E308Q;ENSP00000385241:E308Q;ENSP00000385823:E308Q	ENSP00000282366:E308Q	E	+	1	0	MTA3	42776439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.262000	0.78410	1.115000	0.41800	0.655000	0.94253	GAA		0.279	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		C	42922935	G	C	42922935	3	2	219	1	0	0	0	0	1	0	0	0	9910	1291	45	3	960	3	MTA3	2	42922935	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08		42922935	200276438	11	12523											
NRXN1	9378	broad.mit.edu	37	2	50758414	50758414	+	Silent	SNP	G	G	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr2:50758414G>T	ENST00000406316.2	-	11	3774	c.2298C>A	c.(2296-2298)acC>acA	p.T766T	NRXN1_ENST00000401669.2_Silent_p.T766T|NRXN1_ENST00000406859.3_Silent_p.T766T|NRXN1_ENST00000404971.1_Silent_p.T806T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.T758T|NRXN1_ENST00000405472.3_Silent_p.T758T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	766	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.T766T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGCGGAGGGTGTCAGCAG	0.493																																																1	Substitution - coding silent(1)	ovary(1)	2											67	73	71					2																	50758414		2074	4235	6309	50611918	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2298C>A	2.37:g.50758414G>T			50611918	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																				0.493	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50758414	G	T	50758414	2	4	219	1	0	0	0	0	0	0	0	1	10665	1219	43	3		3	NRXN1	2	50758414	Silent	SNP	G	TCGA-24-1423-01A-01W-0545-08	7835479	50758414	192440959	12	12524											
PTPN18	26469	broad.mit.edu	37	2	131116825	131116825	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr2:131116825C>G	ENST00000175756.5	+	3	323	c.222C>G	c.(220-222)atC>atG	p.I74M	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	74	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.I74M(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CGCGAGTAATCCTCTCCCTGC	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											87	89	88					2																	131116825		2203	4300	6503	130833295	SO:0001583	missense	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.222C>G	2.37:g.131116825C>G	ENSP00000175756:p.Ile74Met		130833295	B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351016	0.24512	.	.	ENSG00000072135	ENST00000175756;ENST00000409022	D	0.83755	-1.76	4.34	1.46	0.22682	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.32703	N	0.005757	D	0.83571	0.5283	L	0.49640	1.575	0.20703	N	0.999864	P;D	0.53151	0.934;0.958	P;P	0.61874	0.799;0.895	T	0.72849	-0.4168	10	0.59425	D	0.04	.	4.4518	0.11624	0.1828:0.6353:0.0:0.1819	.	74;74	E7EMB8;Q99952	.;PTN18_HUMAN	M	74	ENSP00000175756:I74M	ENSP00000175756:I74M	I	+	3	3	PTPN18	130833295	0.010000	0.17322	0.302000	0.25058	0.505000	0.33919	-0.206000	0.09398	0.159000	0.19401	0.563000	0.77884	ATC		0.562	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			G	131116825	C	G	131116825	3	3	219	1	0	0	0	0	1	0	0	0	12787	845	30	3	232	3	PTPN18	2	131116825	Missense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08	80358411	131116825	112082548	13	12525											
ZEB2	9839	broad.mit.edu	37	2	145147303	145147303	+	Silent	SNP	C	C	A	rs398124280		TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr2:145147303C>A	ENST00000558170.2	-	10	4544	c.3360G>T	c.(3358-3360)ggG>ggT	p.G1120G	ZEB2_ENST00000303660.4_Silent_p.G1120G|ZEB2_ENST00000539609.3_Silent_p.G1096G|ZEB2_ENST00000409487.3_Silent_p.G1120G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1120	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.G1120G(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGTCAGAGTACCCCTGAGGGG	0.627																																					Melanoma(33;1235 1264 5755 16332)											1	Substitution - coding silent(1)	ovary(1)	2											105	97	99					2																	145147303		2203	4300	6503	144863773	SO:0001819	synonymous_variant	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3360G>T	2.37:g.145147303C>A			144863773	A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	CCDS2186.1																																																																																				0.627	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		A	145147303	C	A	145147303	2	1	219	1	0	0	0	0	0	0	0	1	17624	494	18	3		3	ZEB2	2	145147303	Silent	SNP	C	TCGA-24-1423-01A-01W-0545-08	14030478	145147303	98052070	14	12526											
TTN	7273	broad.mit.edu	37	2	179454011	179454011	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr2:179454011C>G	ENST00000591111.1	-	254	57742	c.57518G>C	c.(57517-57519)aGa>aCa	p.R19173T	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20814T|TTN_ENST00000342992.6_Missense_Mutation_p.R18246T|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11874T|TTN_ENST00000342175.6_Missense_Mutation_p.R11941T|TTN_ENST00000460472.2_Missense_Mutation_p.R11749T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19173	Ig-like 108.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R11749T(1)|p.R18244T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGGTGATCTTGTTAAGTC	0.453																																																2	Substitution - Missense(2)	ovary(2)	2											165	166	166					2																	179454011		1932	4131	6063	179162257	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57518G>C	2.37:g.179454011C>G	ENSP00000465570:p.Arg19173Thr		179162257	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.56	1.384203	0.25031	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	6.02	6.02	0.97574	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56140	0.1965	N	0.16833	0.445	0.35686	D	0.814462	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.51550	0.673;0.673;0.673;0.673	T	0.66972	-0.5788	9	0.87932	D	0	.	10.8017	0.46493	0.0:0.8605:0.0:0.1395	.	11749;11874;11941;19173	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	18246;11749;11941;11874;11747	ENSP00000343764:R18246T;ENSP00000434586:R11749T;ENSP00000340554:R11941T;ENSP00000352154:R11874T	ENSP00000340554:R11941T	R	-	2	0	TTN	179162257	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.339000	0.43965	2.857000	0.98124	0.650000	0.86243	AGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179454011	C	G	179454011	3	3	219	1	0	0	0	0	1	0	0	0	16735	913	32	3	45774	3	TTN	2	179454011	Missense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08	34306708	179454011	63745362	15	12527											
CBLB	868	broad.mit.edu	37	3	105400587	105400587	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr3:105400587G>C	ENST00000264122.4	-	15	2598	c.2277C>G	c.(2275-2277)gaC>gaG	p.D759E	CBLB_ENST00000405772.1_Missense_Mutation_p.D759E|CBLB_ENST00000403724.1_Missense_Mutation_p.D759E|CBLB_ENST00000407712.1_Missense_Mutation_p.D18E|CBLB_ENST00000394027.3_Missense_Mutation_p.D781E	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	759	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D759E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATATGCTTAAGTCAGGGATGT	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	1	Substitution - Missense(1)	ovary(1)	3											97	101	100					3																	105400587		2203	4300	6503	106883277	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2277C>G	3.37:g.105400587G>C	ENSP00000264122:p.Asp759Glu		106883277	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	0.909	-0.719539	0.03182	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027;ENST00000403724;ENST00000405772	T;D;T;D;D;D	0.83250	-0.98;-1.56;-1.11;-1.7;-1.66;-1.6	5.96	-5.05	0.02955	.	0.405999	0.30338	N	0.009842	T	0.50701	0.1631	N	0.02247	-0.625	0.58432	D	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.05468	-1.0883	10	0.87932	D	0	-5.8485	1.3654	0.02200	0.1704:0.2624:0.1707:0.3965	.	781;759;759;781	E7ENW2;Q13191-3;Q13191;B4DYP3	.;.;CBLB_HUMAN;.	E	142;759;18;781;759;759	ENSP00000377598:D142E;ENSP00000264122:D759E;ENSP00000384170:D18E;ENSP00000377595:D781E;ENSP00000384816:D759E;ENSP00000384938:D759E	ENSP00000264122:D759E	D	-	3	2	CBLB	106883277	0.290000	0.24343	0.892000	0.35008	0.944000	0.59088	-0.637000	0.05459	-0.850000	0.04152	-0.353000	0.07706	GAC		0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		C	105400587	G	C	105400587	3	2	219	1	0	0	0	0	1	0	0	0	2701	1020	36	3	691	3	CBLB	3	105400587	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08		105400587	92621843	16	12528											
STXBP5L	9515	broad.mit.edu	37	3	120957911	120957911	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr3:120957911T>G	ENST00000273666.6	+	13	1549	c.1278T>G	c.(1276-1278)atT>atG	p.I426M	STXBP5L_ENST00000471454.1_Missense_Mutation_p.I426M|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I426M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I426M|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I426M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	426					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I426M(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CGGATTTGATTCTAGTACTGT	0.313																																																1	Substitution - Missense(1)	ovary(1)	3											53	50	51					3																	120957911		1834	4093	5927	122440601	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1278T>G	3.37:g.120957911T>G	ENSP00000273666:p.Ile426Met		122440601	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.581531	0.28180	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.39406	1.77;1.77;1.57;1.08;1.57;1.78	4.97	2.49	0.30216	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	M	0.86178	2.8	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.58775	-0.7577	10	0.56958	D	0.05	-30.5866	5.4905	0.16773	0.1293:0.1466:0.0:0.7241	.	426;426	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	M	426	ENSP00000273666:I426M;ENSP00000420019:I426M;ENSP00000419627:I426M;ENSP00000420287:I426M;ENSP00000420666:I426M;ENSP00000420167:I426M	ENSP00000273666:I426M	I	+	3	3	STXBP5L	122440601	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	1.965000	0.40471	0.342000	0.23796	0.533000	0.62120	ATT		0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			G	120957911	T	G	120957911	3	3	219	1	0	0	0	0	1	0	0	0	15359	1771	62	5	1324	5	STXBP5L	3	120957911	Missense_Mutation	SNP	T	TCGA-24-1423-01A-01W-0545-08	15557324	120957911	77064519	17	12529											
FBXO40	51725	broad.mit.edu	37	3	121345659	121345659	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr3:121345659C>A	ENST00000338040.4	+	4	2446	c.2032C>A	c.(2032-2034)Ccg>Acg	p.P678T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	678					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P678T(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAAAACTGACCCGATTCTTTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											115	111	113					3																	121345659		2203	4300	6503	122828349	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.2032C>A	3.37:g.121345659C>A	ENSP00000337510:p.Pro678Thr		122828349	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035186	0.93575	.	.	ENSG00000163833	ENST00000338040	T	0.35973	1.28	6.17	6.17	0.99709	.	0.050909	0.85682	D	0.000000	T	0.61085	0.2319	M	0.68593	2.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.59225	-0.7494	10	0.66056	D	0.02	-15.0266	18.3732	0.90420	0.0:1.0:0.0:0.0	.	678	Q9UH90	FBX40_HUMAN	T	678	ENSP00000337510:P678T	ENSP00000337510:P678T	P	+	1	0	FBXO40	122828349	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.973000	0.56845	2.941000	0.99782	0.655000	0.94253	CCG		0.478	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		A	121345659	C	A	121345659	3	1	219	1	0	0	0	0	1	0	0	0	5749	623	22	3	2042	3	FBXO40	3	121345659	Missense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08	387748	121345659	76676771	18	12530											
COL6A5	256076	broad.mit.edu	37	3	130159638	130159638	+	Silent	SNP	G	G	A			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr3:130159638G>A	ENST00000432398.2	+	35	6950	c.6456G>A	c.(6454-6456)aaG>aaA	p.K2152K	COL6A5_ENST00000265379.6_Silent_p.K2152K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2152	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.K191K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATATTGCGAAGTTCTTAAAGC	0.358																																																1	Substitution - coding silent(1)	ovary(1)	3											63	58	60					3																	130159638		1845	4092	5937	131642328	SO:0001819	synonymous_variant	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6456G>A	3.37:g.130159638G>A			131642328	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	0.974	-0.699235	0.03279	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.87	3.09	0.35607	.	.	.	.	.	T	0.58509	0.2127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55636	-0.8110	4	.	.	.	.	9.0378	0.36298	0.2693:0.0:0.7307:0.0	.	.	.	.	I	404	.	.	V	+	1	0	COL6A5	131642328	1.000000	0.71417	0.993000	0.49108	0.215000	0.24574	0.702000	0.25631	1.487000	0.48415	0.655000	0.94253	GTT		0.358	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		A	130159638	G	A	130159638	2	1	219	1	0	0	0	0	0	0	0	1	3702	1020	36	2		2	COL6A5	3	130159638	Silent	SNP	G	TCGA-24-1423-01A-01W-0545-08	8813979	130159638	67862792	19	12531											
TFRC	7037	broad.mit.edu	37	3	195780356	195780356	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr3:195780356G>C	ENST00000360110.4	-	18	2142	c.1973C>G	c.(1972-1974)aCa>aGa	p.T658R	TFRC_ENST00000420415.1_Missense_Mutation_p.T577R|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.T376R|TFRC_ENST00000392396.3_Missense_Mutation_p.T658R	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	658	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.T658R(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CCCGAAATCTGTTGTTAGTCT	0.423			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	1	Substitution - Missense(1)	ovary(1)	3											154	149	151					3																	195780356		2203	4300	6503	197264753	SO:0001583	missense	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1973C>G	3.37:g.195780356G>C	ENSP00000353224:p.Thr658Arg		197264753	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	1.605	-0.525408	0.04141	.	.	ENSG00000072274	ENST00000426789;ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.6	4.64	0.57946	Transferrin receptor-like, dimerisation domain (3);	0.472734	0.23698	N	0.045458	T	0.32852	0.0843	L	0.29908	0.895	0.28645	N	0.906982	B	0.31752	0.338	B	0.21151	0.033	T	0.13124	-1.0521	10	0.14656	T	0.56	-11.6932	9.5331	0.39207	0.0:0.1302:0.6451:0.2246	.	658	P02786	TFR1_HUMAN	R	70;658;577;658;376	ENSP00000414015:T70R;ENSP00000353224:T658R;ENSP00000390133:T577R;ENSP00000376197:T658R;ENSP00000437753:T376R	ENSP00000353224:T658R	T	-	2	0	TFRC	197264753	0.548000	0.26473	0.774000	0.31636	0.245000	0.25701	1.175000	0.31944	2.635000	0.89317	0.655000	0.94253	ACA		0.423	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			C	195780356	G	C	195780356	3	2	219	1	0	0	0	0	1	0	0	0	15812	1377	48	3	317	3	TFRC	3	195780356	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	65620718	195780356	2242074	20	12532											
RFC1	5981	broad.mit.edu	37	4	39328200	39328200	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr4:39328200G>C	ENST00000381897.1	-	6	758	c.625C>G	c.(625-627)Ctt>Gtt	p.L209V	RFC1_ENST00000349703.2_Missense_Mutation_p.L209V|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	209					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.L209V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCTTCATCAAGCTGTAATTGC	0.358																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											1	Substitution - Missense(1)	ovary(1)	4											118	106	110					4																	39328200		2203	4299	6502	39004595	SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.625C>G	4.37:g.39328200G>C	ENSP00000371321:p.Leu209Val		39004595	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128050	0.37533	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.54279	0.58;0.58	5.53	4.61	0.57282	.	0.312793	0.34628	N	0.003811	T	0.55321	0.1913	M	0.66939	2.045	0.43191	D	0.995023	B;B	0.33940	0.307;0.433	B;B	0.40009	0.168;0.316	T	0.51284	-0.8725	10	0.14656	T	0.56	-11.9984	17.0751	0.86584	0.0:0.0:0.8645:0.1355	.	209;209	P35251;P35251-2	RFC1_HUMAN;.	V	209	ENSP00000371321:L209V;ENSP00000261424:L209V	ENSP00000261424:L209V	L	-	1	0	RFC1	39004595	1.000000	0.71417	0.994000	0.49952	0.606000	0.37113	3.102000	0.50291	2.605000	0.88082	0.650000	0.86243	CTT		0.358	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		C	39328200	G	C	39328200	3	2	219	1	0	0	0	0	1	0	0	0	13247	971	34	3	2898	3	RFC1	4	39328200	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08		39328200	151826076	21	12533											
USP46	64854	broad.mit.edu	37	4	53476722	53476722	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr4:53476722A>G	ENST00000441222.3	-	5	807	c.623T>C	c.(622-624)aTt>aCt	p.I208T	USP46_ENST00000451218.2_Missense_Mutation_p.I181T|USP46_ENST00000508499.1_Missense_Mutation_p.I201T	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	208	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.I208T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACAGTGGGTAATGGATGTATT	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											80	76	78					4																	53476722		1974	4172	6146	53171479	SO:0001583	missense	64854			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.623T>C	4.37:g.53476722A>G	ENSP00000407818:p.Ile208Thr		53171479	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265390	0.80358	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.07444	3.19;3.19;3.19	5.72	5.72	0.89469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000010	T	0.42063	0.1186	H	0.95645	3.7	0.80722	D	1	D;D;D;D	0.89917	0.996;0.998;1.0;1.0	D;D;D;D	0.97110	0.978;0.988;1.0;0.994	T	0.58607	-0.7607	10	0.87932	D	0	-18.4717	15.18	0.72947	1.0:0.0:0.0:0.0	.	92;196;208;201	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	T	208;181;201	ENSP00000407818:I208T;ENSP00000390102:I181T;ENSP00000423244:I201T	ENSP00000407818:I208T	I	-	2	0	USP46	53171479	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	9.287000	0.95975	2.179000	0.69175	0.482000	0.46254	ATT		0.363	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		G	53476722	A	G	53476722	3	3	219	1	0	0	0	0	1	0	0	0	17077	101	4	4	497	4	USP46	4	53476722	Missense_Mutation	SNP	A	TCGA-24-1423-01A-01W-0545-08	14148522	53476722	137677554	22	12534											
CEP72	55722	broad.mit.edu	37	5	624630	624630	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr5:624630C>T	ENST00000264935.5	+	4	538	c.448C>T	c.(448-450)Cat>Tat	p.H150Y	CEP72_ENST00000444221.1_Missense_Mutation_p.H150Y	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	150	LRRCT.				G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.H150Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TTCCCGACTGCATTTTGCATC	0.567																																																1	Substitution - Missense(1)	ovary(1)	5											84	77	79					5																	624630		2203	4300	6503	677630	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.448C>T	5.37:g.624630C>T	ENSP00000264935:p.His150Tyr		677630	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554531	0.27739	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.18016	2.94;2.24	5.32	4.45	0.53987	.	0.127926	0.53938	D	0.000052	T	0.29423	0.0733	L	0.60957	1.885	0.38573	D	0.95	D	0.64830	0.994	P	0.55055	0.767	T	0.11060	-1.0603	10	0.62326	D	0.03	-10.4372	11.4932	0.50394	0.0:0.9146:0.0:0.0854	.	150	Q9P209	CEP72_HUMAN	Y	150	ENSP00000264935:H150Y;ENSP00000392052:H150Y	ENSP00000264935:H150Y	H	+	1	0	CEP72	677630	1.000000	0.71417	0.250000	0.24296	0.005000	0.04900	4.355000	0.59424	1.375000	0.46248	-0.136000	0.14681	CAT		0.567	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		T	624630	C	T	624630	3	4	219	1	0	0	0	0	1	0	0	0	3260	710	25	2	462	2	CEP72	5	624630	Missense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08		624630	180290630	23	12535											
OSMR	9180	broad.mit.edu	37	5	38933452	38933452	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr5:38933452T>C	ENST00000274276.3	+	18	3248	c.2846T>C	c.(2845-2847)aTg>aCg	p.M949T		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	949					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.M949T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAATGCAAATGGCAGTCTCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	5											127	130	129					5																	38933452		2203	4300	6503	38969209	SO:0001583	missense	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2846T>C	5.37:g.38933452T>C	ENSP00000274276:p.Met949Thr		38969209	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991339	0.35131	.	.	ENSG00000145623	ENST00000274276	T	0.54479	0.57	5.79	4.61	0.57282	.	0.090404	0.48767	N	0.000164	T	0.46639	0.1403	M	0.61703	1.905	0.34066	D	0.65791	B	0.27498	0.18	B	0.20577	0.03	T	0.56595	-0.7953	10	0.45353	T	0.12	.	8.8163	0.34998	0.0:0.0858:0.0:0.9142	.	949	Q99650	OSMR_HUMAN	T	949	ENSP00000274276:M949T	ENSP00000274276:M949T	M	+	2	0	OSMR	38969209	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.624000	0.37018	0.977000	0.38444	0.533000	0.62120	ATG		0.498	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		C	38933452	T	C	38933452	3	2	219	1	0	0	0	0	1	0	0	0	11292	1464	51	4	2950	4	OSMR	5	38933452	Missense_Mutation	SNP	T	TCGA-24-1423-01A-01W-0545-08	38308822	38933452	141981808	24	12536											
ATP10B	23120	broad.mit.edu	37	5	160049412	160049442	+	Frame_Shift_Del	DEL	GCTCGGTGGTTGTGGACACCATGACAGAGTT	GCTCGGTGGTTGTGGACACCATGACAGAGTT	-	rs80300275|rs548788352|rs368181743|rs529106149	byFrequency	TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	GCTCGGTGGTTGTGGACACCATGACAGAGTT	GCTCGGTGGTTGTGGACACCATGACAGAGTT	-	-	GCTCGGTGGTTGTGGACACCATGACAGAGTT	GCTCGGTGGTTGTGGACACCATGACAGAGTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr5:160049412_160049442delGCTCGGTGGTTGTGGACACCATGACAGAGTT	ENST00000327245.5	-	14	2617_2647	c.1771_1801delAACTCTGTCATGGTGTCCACAACCACCGAGC	c.(1771-1803)aactctgtcatggtgtccacaaccaccgagcccfs	p.NSVMVSTTTEP591fs	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	591					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N591fs*28(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTGCCTGGGCTCGGTGGTTGTGGACACCATGACAGAGTTGCAGATGGTT	0.576																																																1	Deletion - Frameshift(1)	ovary(1)	5																																								159982020	SO:0001589	frameshift_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1771_1801delAACTCTGTCATGGTGTCCACAACCACCGAGC	5.37:g.160049412_160049442delGCTCGGTGGTTGTGGACACCATGACAGAGTT	ENSP00000313600:p.Asn591fs		159981990	Q9H725	Frame_Shift_Del	DEL	ENST00000327245.5	37	CCDS43394.1																																																																																				0.576	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		-	160049442	GCTCGGTGGTTGTGGACACCATGACAGAGTT	-	160049412	7	5	219	1	0	1	0	1	0	0	0	0	1117	1203	42	0	2636	0	ATP10B	5	160049412	Frame_Shift_Del	DEL	GCTCGGTGGTTGTGGACACCATGACAGAGTT	TCGA-24-1423-01A-01W-0545-08	121115960	160049412	20865848	25	12537											
MED23	9439	broad.mit.edu	37	6	131917304	131917304	+	Splice_Site	SNP	C	C	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr6:131917304C>G	ENST00000368068.3	-	22	2958		c.e22-1		MED23_ENST00000403834.3_Splice_Site|MED23_ENST00000545957.1_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000354577.4_Splice_Site	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23						gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGGATATTTCTGTGGAATTG	0.368																																																0			6											64	68	67					6																	131917304		2202	4299	6501	131958997	SO:0001630	splice_region_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2779-1G>C	6.37:g.131917304C>G			131958997	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Splice_Site	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167460	0.78339	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9369	0.97144	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED23	131958997	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.815000	0.86186	2.704000	0.92352	0.644000	0.83932	.		0.368	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		Intron	G	131917304	C	G	131917304	5	3	219	1	0	0	0	0	0	0	1	0	9441	927	32	3	1367	3	MED23	6	131917304	Splice_Site	SNP	C	TCGA-24-1423-01A-01W-0545-08		131917304	39197763	26	12538											
SPDYE1	285955	broad.mit.edu	37	7	44046936	44046936	+	Silent	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr7:44046936G>C	ENST00000258704.3	+	5	839	c.702G>C	c.(700-702)ggG>ggC	p.G234G	RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	234								p.G234G(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TCCTGTATGGGAAGAACCGCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	7											147	148	147					7																	44046936		2203	4300	6503	44013461	SO:0001819	synonymous_variant	285955			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"Speedy homologs"	16408	protein-coding gene	gene with protein product	"Speedy E"		"Williams Beuren syndrome chromosome region 19", "speedy homolog E1 (Xenopus laevis)"	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.702G>C	7.37:g.44046936G>C			44013461	Q9NTH5	Silent	SNP	ENST00000258704.3	37	CCDS5475.1																																																																																				0.547	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		C	44046936	G	C	44046936	2	2	219	1	0	0	0	0	0	0	0	1	15031	1161	41	3		3	SPDYE1	7	44046936	Silent	SNP	G	TCGA-24-1423-01A-01W-0545-08		44046936	115091727	27	12539											
MDH2	4191	broad.mit.edu	37	7	75695631	75695631	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr7:75695631A>G	ENST00000315758.5	+	9	1014	c.920A>G	c.(919-921)aAa>aGa	p.K307R	MDH2_ENST00000432020.2_Missense_Mutation_p.K265R|MDH2_ENST00000443006.1_Missense_Mutation_p.K200R	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	307					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)	p.K307R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GGCATCGGCAAAGTCTCCTCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	7											76	72	73					7																	75695631		2203	4300	6503	75533567	SO:0001583	missense	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.920A>G	7.37:g.75695631A>G	ENSP00000327070:p.Lys307Arg		75533567	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630549	0.46944	.	.	ENSG00000146701	ENST00000315758;ENST00000443006;ENST00000432020	T;T;T	0.68903	-0.36;-0.36;-0.36	5.41	5.41	0.78517	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.042118	0.85682	D	0.000000	T	0.74168	0.3681	M	0.69185	2.1	0.58432	D	0.999998	P;P	0.45768	0.866;0.504	P;B	0.51974	0.686;0.437	T	0.74893	-0.3509	10	0.42905	T	0.14	-16.7401	14.6204	0.68579	1.0:0.0:0.0:0.0	.	265;307	E9PDB2;P40926	.;MDHM_HUMAN	R	307;200;265	ENSP00000327070:K307R;ENSP00000416929:K200R;ENSP00000408649:K265R	ENSP00000327070:K307R	K	+	2	0	MDH2	75533567	1.000000	0.71417	0.827000	0.32855	0.018000	0.09664	6.162000	0.71874	2.050000	0.60909	0.533000	0.62120	AAA		0.502	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			G	75695631	A	G	75695631	3	3	219	1	0	0	0	0	1	0	0	0	9410	14	1	4	954	4	MDH2	7	75695631	Missense_Mutation	SNP	A	TCGA-24-1423-01A-01W-0545-08	31648695	75695631	83443032	28	12540											
ACTL6B	51412	broad.mit.edu	37	7	100243919	100243919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr7:100243919C>A	ENST00000160382.5	-	13	1259	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	385					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)	p.E385*(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AACTTGCGCTCCATGGTGCTG	0.607																																																1	Substitution - Nonsense(1)	ovary(1)	7											75	64	68					7																	100243919		2203	4300	6503	100081855	SO:0001587	stop_gained	51412			AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"actin-like 6"	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.1153G>T	7.37:g.100243919C>A	ENSP00000160382:p.Glu385*		100081855	A4D2D0|O75421	Nonsense_Mutation	SNP	ENST00000160382.5	37	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	C	37	6.624445	0.97714	.	.	ENSG00000077080	ENST00000160382	.	.	.	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3537	0.87330	0.0:1.0:0.0:0.0	.	.	.	.	X	385	.	ENSP00000160382:E385X	E	-	1	0	ACTL6B	100081855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.252000	0.78309	2.710000	0.92621	0.655000	0.94253	GAG		0.607	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		A	100243919	C	A	100243919	4	1	219	1	0	0	0	0	0	1	0	0	199	864	30	3	135	3	ACTL6B	7	100243919	Nonsense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08	24548288	100243919	58894744	29	12541											
CUX1	1523	broad.mit.edu	37	7	101844882	101844882	+	Missense_Mutation	SNP	G	G	A	rs147920735	byFrequency	TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr7:101844882G>A	ENST00000292535.7	+	18	2343	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	CUX1_ENST00000549414.2_Missense_Mutation_p.A747T|CUX1_ENST00000360264.3_Missense_Mutation_p.A780T|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A667T|CUX1_ENST00000550008.2_Missense_Mutation_p.A713T|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A611T|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	769					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A769T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAAGCCCTCCGCAGCTCCTGA	0.672													G|||	7	0.00139776	0.0053	0	5008	,	,		14687	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7						G	THR/ALA,,,,,,THR/ALA	17,4389	25.3+/-52.1	0,17,2186	100	110	107		2338,,,,,,2305	-10.6	0	7	dbSNP_134	107	0,8600		0,0,4300	yes	missense,intron,intron,intron,intron,intron,missense	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	58,,,,,,58	0,17,6486	AA,AG,GG		0.0,0.3858,0.1307	benign,,,,,,benign	780/1517,,,,,,769/1506	101844882	17,12989	2203	4300	6503	101631602	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2305G>A	7.37:g.101844882G>A	ENSP00000292535:p.Ala769Thr		101631602	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.23	1.293385	0.23564	0.003858	0.0	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28	5.32	-10.6	0.00265	.	0.710645	0.13957	N	0.351096	T	0.14270	0.0345	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.14531	-1.0469	10	0.14656	T	0.56	0.7644	1.2494	0.01979	0.2699:0.1149:0.2984:0.3167	.	769;780	P39880;P39880-3	CUX1_HUMAN;.	T	780;769;747;713;667;611	ENSP00000353401:A780T;ENSP00000292535:A769T;ENSP00000446630:A747T;ENSP00000447373:A713T;ENSP00000450125:A667T;ENSP00000451558:A611T	ENSP00000292535:A769T	A	+	1	0	CUX1	101631602	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-0.649000	0.05384	-2.423000	0.00562	0.563000	0.77884	GCA		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		A	101844882	G	A	101844882	3	1	219	1	0	0	0	0	1	0	0	0	4064	1087	38	1	2442	1	CUX1	7	101844882	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	1600963	101844882	57293781	30	12542											
MGAM	8972	broad.mit.edu	37	7	141731568	141731568	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr7:141731568A>T	ENST00000549489.2	+	13	1654	c.1559A>T	c.(1558-1560)cAa>cTa	p.Q520L	MGAM_ENST00000475668.2_Missense_Mutation_p.Q520L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	520	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.Q520L(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCACAATCAAGTAGAGTTT	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											162	151	154					7																	141731568		1839	4086	5925	141378037	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1559A>T	7.37:g.141731568A>T	ENSP00000447378:p.Gln520Leu		141378037	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.587995	0.28268	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91295	-2.82	5.32	5.32	0.75619	Glycoside hydrolase, superfamily (1);	0.382752	0.22531	N	0.058850	D	0.85885	0.5801	L	0.43152	1.355	0.26210	N	0.97931	B	0.09022	0.002	B	0.06405	0.002	T	0.75019	-0.3465	10	0.34782	T	0.22	.	10.9021	0.47058	0.8427:0.1573:0.0:0.0	.	520	O43451	MGA_HUMAN	L	520;520;397	ENSP00000447378:Q520L	ENSP00000316431:Q397L	Q	+	2	0	MGAM	141378037	0.287000	0.24315	0.885000	0.34714	0.062000	0.15995	1.145000	0.31577	2.239000	0.73571	0.533000	0.62120	CAA		0.373	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141731568	A	T	141731568	3	4	219	1	0	0	0	0	1	0	0	0	9541	130	5	5	1605	5	MGAM	7	141731568	Missense_Mutation	SNP	A	TCGA-24-1423-01A-01W-0545-08	39886686	141731568	17407095	31	12543											
TTC35	9694	broad.mit.edu	37	8	109482112	109482112	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr8:109482112A>G	ENST00000220853.3	+	6	456	c.421A>G	c.(421-423)Att>Gtt	p.I141V	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	141						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.I141V(1)									TGTGGAGGCCATTCGGGAGCT	0.378																																																1	Substitution - Missense(1)	ovary(1)	8											76	82	80					8																	109482112		2203	4300	6503	109551288	SO:0001583	missense	9694			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.421A>G	8.37:g.109482112A>G	ENSP00000220853:p.Ile141Val		109551288	Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500992	0.44455	.	.	ENSG00000104412	ENST00000220853	T	0.77750	-1.12	5.62	4.46	0.54185	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	L	0.55017	1.72	0.80722	D	1	P	0.38473	0.633	B	0.33799	0.17	T	0.67810	-0.5574	10	0.35671	T	0.21	-15.3443	11.8053	0.52152	0.931:0.0:0.069:0.0	.	141	Q15006	TTC35_HUMAN	V	141	ENSP00000220853:I141V	ENSP00000220853:I141V	I	+	1	0	TTC35	109551288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.100000	0.76989	1.056000	0.40484	0.528000	0.53228	ATT		0.378	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		G	109482112	A	G	109482112	3	3	219	1	0	0	0	0	1	0	0	0	16703	217	8	4	443	4	TTC35	8	109482112	Missense_Mutation	SNP	A	TCGA-24-1423-01A-01W-0545-08		109482112	36881910	32	12544											
EPC1	80314	broad.mit.edu	37	10	32576097	32576097	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr10:32576097G>T	ENST00000263062.8	-	7	1350	c.1081C>A	c.(1081-1083)Ctg>Atg	p.L361M	EPC1_ENST00000319778.6_Missense_Mutation_p.L361M|EPC1_ENST00000375110.2_Missense_Mutation_p.L311M	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	361					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.L361M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				AAGACTGGCAGTGCAGCAGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											156	138	144					10																	32576097		2203	4300	6503	32616103	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1081C>A	10.37:g.32576097G>T	ENSP00000263062:p.Leu361Met		32616103	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349708	0.82132	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.69561	-0.41;-0.41;-0.41	5.59	5.59	0.84812	.	0.000000	0.56097	D	0.000029	T	0.75413	0.3846	L	0.34521	1.04	0.50467	D	0.999871	B;D;D;D	0.76494	0.404;0.997;0.997;0.999	B;D;D;D	0.70016	0.146;0.967;0.967;0.949	T	0.76898	-0.2789	10	0.62326	D	0.03	-6.5809	19.5994	0.95554	0.0:0.0:1.0:0.0	.	361;311;361;361	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	M	311;361;361	ENSP00000364251:L311M;ENSP00000318559:L361M;ENSP00000263062:L361M	ENSP00000263062:L361M	L	-	1	2	EPC1	32616103	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.774000	0.68906	2.633000	0.89246	0.557000	0.71058	CTG		0.458	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			T	32576097	G	T	32576097	3	4	219	1	0	0	0	0	1	0	0	0	5160	1020	36	3	1465	3	EPC1	10	32576097	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08		32576097	102958650	33	12545											
JMJD1C	221037	broad.mit.edu	37	10	64936163	64936163	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr10:64936163T>C	ENST00000399262.2	-	24	7513	c.7295A>G	c.(7294-7296)aAc>aGc	p.N2432S	JMJD1C_ENST00000402544.1_Missense_Mutation_p.N2195S|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.N2250S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2432	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.N2195S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GAGCTTTTTGTTCACATACCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	10											127	118	121					10																	64936163		1868	4087	5955	64606169	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7295A>G	10.37:g.64936163T>C	ENSP00000382204:p.Asn2432Ser		64606169	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427259	0.25726	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.71222	-0.55;-0.55;-0.55	5.64	5.64	0.86602	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.046736	0.85682	D	0.000000	T	0.45478	0.1344	N	0.02247	-0.625	0.80722	D	1	B;B	0.21520	0.057;0.026	B;B	0.27500	0.08;0.03	T	0.45571	-0.9252	10	0.29301	T	0.29	-15.2545	9.9661	0.41725	0.0:0.0763:0.0:0.9237	.	2432;2250	Q15652;A0T124	JHD2C_HUMAN;.	S	2432;2195;2250	ENSP00000382204:N2432S;ENSP00000384990:N2195S;ENSP00000444682:N2250S	ENSP00000382204:N2432S	N	-	2	0	JMJD1C	64606169	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	2.450000	0.44943	2.139000	0.66308	0.533000	0.62120	AAC		0.398	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		C	64936163	T	C	64936163	3	2	219	1	0	0	0	0	1	0	0	0	7950	1725	60	4	339	4	JMJD1C	10	64936163	Missense_Mutation	SNP	T	TCGA-24-1423-01A-01W-0545-08	32360066	64936163	70598584	34	12546											
DUPD1	338599	broad.mit.edu	37	10	76803577	76803577	+	Silent	SNP	G	G	A			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr10:76803577G>A	ENST00000338487.5	-	2	398	c.399C>T	c.(397-399)gaC>gaT	p.D133D		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	133	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D133D(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTAGCGCTCTGTCGATGAAGG	0.697																																																1	Substitution - coding silent(1)	ovary(1)	10											78	69	72					10																	76803577		2203	4300	6503	76473583	SO:0001819	synonymous_variant	338599				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.399C>T	10.37:g.76803577G>A			76473583	B2RP93	Silent	SNP	ENST00000338487.5	37	CCDS31223.1																																																																																				0.697	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		A	76803577	G	A	76803577	2	1	219	1	0	0	0	0	0	0	0	1	4804	1368	48	2		2	DUPD1	10	76803577	Silent	SNP	G	TCGA-24-1423-01A-01W-0545-08	11867414	76803577	58731170	35	12547											
SOAT2	8435	broad.mit.edu	37	12	53509190	53509190	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr12:53509190G>C	ENST00000301466.3	+	6	520	c.460G>C	c.(460-462)Gac>Cac	p.D154H		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	154					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.D154H(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GCTGGAGTTTGACCTACTGAT	0.567																																																1	Substitution - Missense(1)	ovary(1)	12											68	68	68					12																	53509190		2203	4300	6503	51795457	SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.460G>C	12.37:g.53509190G>C	ENSP00000301466:p.Asp154His		51795457	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855361	0.91355	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.17854	2.25;2.25	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13980	-1.0489	10	0.40728	T	0.16	-34.1655	18.3904	0.90481	0.0:0.0:1.0:0.0	.	154	O75908	SOAT2_HUMAN	H	134;154	ENSP00000450120:D134H;ENSP00000301466:D154H	ENSP00000301466:D154H	D	+	1	0	SOAT2	51795457	1.000000	0.71417	0.780000	0.31762	0.997000	0.91878	7.416000	0.80143	2.725000	0.93324	0.655000	0.94253	GAC		0.567	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			C	53509190	G	C	53509190	3	2	219	1	0	0	0	0	1	0	0	0	14914	1290	45	3	482	3	SOAT2	12	53509190	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08		53509190	80342705	36	12548											
ZFC3H1	196441	broad.mit.edu	37	12	72013148	72013148	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr12:72013148A>C	ENST00000378743.3	-	27	5449	c.5091T>G	c.(5089-5091)atT>atG	p.I1697M		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1697					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I1697M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGAAGGATGCAATAAATTTCC	0.353																																																1	Substitution - Missense(1)	ovary(1)	12											69	62	64					12																	72013148		1811	4074	5885	70299415	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5091T>G	12.37:g.72013148A>C	ENSP00000368017:p.Ile1697Met		70299415	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374899	0.42105	.	.	ENSG00000133858	ENST00000378743	T	0.37235	1.21	5.55	-0.801	0.10893	Tetratricopeptide-like helical (1);	0.216928	0.39341	N	0.001390	T	0.19644	0.0472	N	0.24115	0.695	0.80722	D	1	B	0.23316	0.083	B	0.15870	0.014	T	0.03354	-1.1045	10	0.66056	D	0.02	.	6.7449	0.23456	0.4995:0.1362:0.3643:0.0	.	1697	O60293	ZC3H1_HUMAN	M	1697	ENSP00000368017:I1697M	ENSP00000368017:I1697M	I	-	3	3	ZFC3H1	70299415	0.946000	0.32159	0.997000	0.53966	0.999000	0.98932	-0.046000	0.11983	-0.139000	0.11414	0.533000	0.62120	ATT		0.353	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		C	72013148	A	C	72013148	3	2	219	1	0	0	0	0	1	0	0	0	17633	126	5	5	914	5	ZFC3H1	12	72013148	Missense_Mutation	SNP	A	TCGA-24-1423-01A-01W-0545-08	18503958	72013148	61838747	37	12549											
CDK17	5128	broad.mit.edu	37	12	96717754	96717754	+	Missense_Mutation	SNP	C	C	T	rs374368521		TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr12:96717754C>T	ENST00000261211.3	-	3	858	c.255G>A	c.(253-255)atG>atA	p.M85I	CDK17_ENST00000543119.2_Missense_Mutation_p.M85I|CDK17_ENST00000542666.1_Missense_Mutation_p.M32I	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	85					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.M85I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGGGCATTGCCATGAAGGAGC	0.423																																																1	Substitution - Missense(1)	ovary(1)	12											75	70	72					12																	96717754		2203	4300	6503	95241885	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.255G>A	12.37:g.96717754C>T	ENSP00000261211:p.Met85Ile		95241885	A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467870	0.43839	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666;ENST00000551816;ENST00000552496;ENST00000548734;ENST00000552262	T;T;T;T;T;T	0.68765	-0.34;-0.35;-0.34;0.99;0.99;0.85	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	L	0.33485	1.01	0.53005	D	0.999968	B;B	0.11235	0.002;0.004	B;B	0.10450	0.005;0.005	T	0.50808	-0.8784	10	0.22706	T	0.39	-17.8923	20.3236	0.98685	0.0:1.0:0.0:0.0	.	85;85	A8K1U6;Q00537	.;CDK17_HUMAN	I	85;85;32;85;85;105;85	ENSP00000261211:M85I;ENSP00000444459:M85I;ENSP00000442926:M32I;ENSP00000450058:M85I;ENSP00000447282:M85I;ENSP00000447441:M105I	ENSP00000261211:M85I	M	-	3	0	CDK17	95241885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.732000	0.68563	2.876000	0.98609	0.644000	0.83932	ATG		0.423	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		T	96717754	C	T	96717754	3	4	219	1	0	0	0	0	1	0	0	0	3133	594	21	2	1414	2	CDK17	12	96717754	Missense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08	24704606	96717754	37134141	38	12550											
GOLGA3	2802	broad.mit.edu	37	12	133384882	133384882	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr12:133384882T>G	ENST00000450791.2	-	4	956	c.773A>C	c.(772-774)aAt>aCt	p.N258T	GOLGA3_ENST00000204726.3_Missense_Mutation_p.N258T|GOLGA3_ENST00000545875.1_Missense_Mutation_p.N258T|GOLGA3_ENST00000537452.1_Missense_Mutation_p.N258T|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N258T			Q08378	GOGA3_HUMAN	golgin A3	258					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.N258T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCCCCAGAATTCCCCGCATT	0.537																																																1	Substitution - Missense(1)	ovary(1)	12											139	153	148					12																	133384882		2203	4300	6503	131894955	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.773A>C	12.37:g.133384882T>G	ENSP00000410378:p.Asn258Thr		131894955	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	7.321	0.616998	0.14129	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.23	-4.1	0.03940	.	1.017860	0.07810	N	0.957950	T	0.21550	0.0519	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28933	0.228;0.137;0.106	B;B;B	0.25140	0.053;0.058;0.05	T	0.33904	-0.9850	10	0.54805	T	0.06	.	6.3877	0.21569	0.1967:0.3869:0.0:0.4163	.	258;258;258	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	T	258	ENSP00000204726:N258T;ENSP00000410378:N258T;ENSP00000409303:N258T;ENSP00000442143:N258T;ENSP00000442603:N258T	ENSP00000204726:N258T	N	-	2	0	GOLGA3	131894955	0.000000	0.05858	0.001000	0.08648	0.240000	0.25518	-0.545000	0.06069	-0.473000	0.06871	-0.334000	0.08254	AAT		0.537	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		G	133384882	T	G	133384882	3	3	219	1	0	0	0	0	1	0	0	0	6554	1493	52	5	3941	5	GOLGA3	12	133384882	Missense_Mutation	SNP	T	TCGA-24-1423-01A-01W-0545-08	36667128	133384882	467013	39	12551											
C15orf29	79768	broad.mit.edu	37	15	34439435	34439435	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr15:34439435G>C	ENST00000256544.3	-	7	806	c.664C>G	c.(664-666)Cta>Gta	p.L222V		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	222						nucleolus (GO:0005730)		p.L222V(1)									GACTTTACTAGAGGCAACAAG	0.318																																																1	Substitution - Missense(1)	ovary(1)	15											65	66	66					15																	34439435		2201	4298	6499	32226727	SO:0001583	missense	79768			AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 29"	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.664C>G	15.37:g.34439435G>C	ENSP00000256544:p.Leu222Val		32226727	A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729212	0.69074	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	5.7	5.7	0.88788	.	0.132704	0.52532	D	0.000066	T	0.66645	0.2810	L	0.54323	1.7	0.40867	D	0.983885	D	0.76494	0.999	D	0.70227	0.968	T	0.61753	-0.6998	9	0.17369	T	0.5	.	10.8605	0.46823	0.1136:0.0:0.8864:0.0	.	222	Q9H079	CO029_HUMAN	V	222;126	.	ENSP00000256544:L222V	L	-	1	2	C15orf29	32226727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.560000	0.60802	2.692000	0.91855	0.591000	0.81541	CTA		0.318	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1	NM_024713		C	34439435	G	C	34439435	3	2	219	1	0	0	0	0	1	0	0	0	1789	933	33	3	266	3	C15orf29	15	34439435	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08		34439435	68091957	40	12552											
TMC3	342125	broad.mit.edu	37	15	81650817	81650817	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr15:81650817T>A	ENST00000359440.5	-	6	661	c.526A>T	c.(526-528)Agc>Tgc	p.S176C	TMC3_ENST00000558726.1_Missense_Mutation_p.S176C|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.S176C(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTGGCTGTGCTTCCAAAGGGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	15											73	80	78					15																	81650817		2038	4200	6238	79437872	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.526A>T	15.37:g.81650817T>A	ENSP00000352413:p.Ser176Cys		79437872		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.918075	0.52546	.	.	ENSG00000188869	ENST00000359440	T	0.52754	0.65	5.21	5.21	0.72293	.	0.058311	0.64402	D	0.000002	T	0.68293	0.2985	M	0.79475	2.455	0.58432	D	0.999991	D;P	0.76494	0.999;0.786	D;B	0.66716	0.946;0.22	T	0.73395	-0.3996	10	0.87932	D	0	-26.88	15.2366	0.73436	0.0:0.0:0.0:1.0	.	176;176	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	C	176	ENSP00000352413:S176C	ENSP00000352413:S176C	S	-	1	0	TMC3	79437872	1.000000	0.71417	0.960000	0.40013	0.299000	0.27559	7.152000	0.77419	2.178000	0.69098	0.528000	0.53228	AGC		0.567	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		A	81650817	T	A	81650817	3	1	219	1	0	0	0	0	1	0	0	0	15986	1609	56	5	2844	5	TMC3	15	81650817	Missense_Mutation	SNP	T	TCGA-24-1423-01A-01W-0545-08	47211382	81650817	20880575	41	12553											
FBXL19	54620	broad.mit.edu	37	16	30958095	30958095	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr16:30958095C>T	ENST00000380310.2	+	10	1890	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000565690.1_Missense_Mutation_p.R442C|ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.R266C|ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000562319.1_Missense_Mutation_p.R558C|FBXL19_ENST00000338343.4_Missense_Mutation_p.R558C|AC135048.13_ENST00000566056.1_RNA	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	578					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R408C(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGCAGAACTGCGTCTGGCAGG	0.677																																																1	Substitution - Missense(1)	ovary(1)	16											31	39	36					16																	30958095		2124	4235	6359	30865596	SO:0001583	missense	54620			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1732C>T	16.37:g.30958095C>T	ENSP00000369666:p.Arg578Cys		30865596	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.965916|3.965916	0.74131|0.74131	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.36878	.|1.23;1.23	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.61098|0.61098	0.2320|0.2320	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.651;1.0	.|B;D	.|0.83275	.|0.124;0.996	T|T	0.65853|0.65853	-0.6067|-0.6067	5|10	.|0.62326	.|D	.|0.03	-14.3079|-14.3079	16.5678|16.5678	0.84603|0.84603	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|578;535	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	V|C	469|558;578	.|ENSP00000339712:R558C;ENSP00000369666:R578C	.|ENSP00000339712:R558C	A|R	+|+	2|1	0|0	FBXL19|FBXL19	30865596|30865596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.738000|7.738000	0.84966|0.84966	2.203000|2.203000	0.70933|0.70933	0.561000|0.561000	0.74099|0.74099	GCG|CGT		0.677	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		T	30958095	C	T	30958095	3	4	219	1	0	0	0	0	1	0	0	0	5715	768	27	1	1770	1	FBXL19	16	30958095	Missense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08		30958095	59396658	42	12554											
SETD1A	9739	broad.mit.edu	37	16	30982964	30982964	+	Silent	SNP	G	G	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr16:30982964G>T	ENST00000262519.8	+	13	3968	c.3282G>T	c.(3280-3282)gtG>gtT	p.V1094V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1094	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V1094V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTGTGGAGGTGCCAGTGCCGG	0.662																																																1	Substitution - coding silent(1)	ovary(1)	16											36	38	38					16																	30982964		2197	4298	6495	30890465	SO:0001819	synonymous_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3282G>T	16.37:g.30982964G>T			30890465	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																				0.662	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		T	30982964	G	T	30982964	2	4	219	1	0	0	0	0	0	0	0	1	14133	1306	46	3		3	SETD1A	16	30982964	Silent	SNP	G	TCGA-24-1423-01A-01W-0545-08	24869	30982964	59371789	43	12555											
TP53	7157	broad.mit.edu	37	17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-	rs587778718		TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	GAG	GAG	-	-	GAG	GAG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr17:7578275_7578277delGAG	ENST00000269305.4	-	6	761_763	c.572_574delCTC	c.(571-576)cctcag>cag	p.P191del	TP53_ENST00000359597.4_In_Frame_Del_p.P191del|TP53_ENST00000455263.2_In_Frame_Del_p.P191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_In_Frame_Del_p.P191del|TP53_ENST00000420246.2_In_Frame_Del_p.P191del|TP53_ENST00000445888.2_In_Frame_Del_p.P191del	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	191	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCCAG	0.557		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"	156	Substitution - Nonsense(95)|Deletion - In frame(23)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Substitution - Missense(6)|Insertion - Frameshift(2)|Complex - frameshift(1)|Substitution - coding silent(1)	breast(27)|ovary(21)|urinary_tract(15)|lung(13)|upper_aerodigestive_tract(12)|large_intestine(9)|skin(9)|oesophagus(8)|biliary_tract(7)|haematopoietic_and_lymphoid_tissue(6)|kidney(6)|stomach(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)|prostate(1)	17	GRCh37	CD972478	TP53	D																																				7519002	SO:0001651	inframe_deletion	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.572_574delCTC	17.37:g.7578278_7578280delGAG	ENSP00000269305:p.Pro191del		7519000	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	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578277	GAG	-	7578275	7	5	219	1	0	1	0	1	0	0	0	0	16381	1299	45	0	720	0	TP53	17	7578275	In_Frame_Del	DEL	GAG	TCGA-24-1423-01A-01W-0545-08		7578275	73616935	44	12556											
ICT1	3396	broad.mit.edu	37	17	73016603	73016603	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr17:73016603G>C	ENST00000301585.5	+	5	400	c.387G>C	c.(385-387)agG>agC	p.R129S		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	129					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)	p.R129S(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					AGATCAACAGGTTAGGAGAGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	17											58	60	59					17																	73016603		2203	4300	6503	70528198	SO:0001583	missense	3396			X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.387G>C	17.37:g.73016603G>C	ENSP00000301585:p.Arg129Ser		70528198	B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826591	0.32329	.	.	ENSG00000167862	ENST00000301585	T	0.30182	1.54	5.77	3.46	0.39613	Peptide chain release factor class I/class II (1);	0.352627	0.34906	N	0.003586	T	0.18002	0.0432	N	0.10685	0.025	0.09310	N	1	B	0.28998	0.23	B	0.34093	0.175	T	0.22871	-1.0204	10	0.49607	T	0.09	-9.7386	11.4668	0.50243	0.2161:0.0:0.7839:0.0	.	129	Q14197	ICT1_HUMAN	S	129	ENSP00000301585:R129S	ENSP00000301585:R129S	R	+	3	2	ICT1	70528198	0.046000	0.20272	0.042000	0.18584	0.913000	0.54294	1.094000	0.30951	1.441000	0.47550	0.561000	0.74099	AGG		0.458	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		C	73016603	G	C	73016603	3	2	219	1	0	0	0	0	1	0	0	0	7488	1252	44	3	405	3	ICT1	17	73016603	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	65438328	73016603	8178607	45	12557											
OSBPL1A	114876	broad.mit.edu	37	18	21758092	21758092	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr18:21758092C>T	ENST00000319481.3	-	21	2184	c.1978G>A	c.(1978-1980)Gct>Act	p.A660T	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.A278T|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.A147T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	660					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.A660T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AATCCTTCAGCATGAAATGCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	18											147	138	141					18																	21758092		2203	4300	6503	20012090	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1978G>A	18.37:g.21758092C>T	ENSP00000320291:p.Ala660Thr		20012090	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	36	5.655357	0.96724	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.32988	1.43;1.43;1.43	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58059	-0.7703	10	0.66056	D	0.02	-21.2003	20.1861	0.98216	0.0:1.0:0.0:0.0	.	660	Q9BXW6	OSBL1_HUMAN	T	660;147;278	ENSP00000320291:A660T;ENSP00000382372:A147T;ENSP00000349545:A278T	ENSP00000320291:A660T	A	-	1	0	OSBPL1A	20012090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.076000	0.71267	2.774000	0.95407	0.655000	0.94253	GCT		0.383	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		T	21758092	C	T	21758092	3	4	219	1	0	0	0	0	1	0	0	0	11277	710	25	2	906	2	OSBPL1A	18	21758092	Missense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08		21758092	56319156	46	12558											
TMPRSS9	360200	broad.mit.edu	37	19	2401990	2401990	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr19:2401990T>G	ENST00000332578.3	+	4	430	c.430T>G	c.(430-432)Ttg>Gtg	p.L144V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	144					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.L144V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGGGACCCTTGGCAGAAAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	19											204	194	197					19																	2401990		2203	4300	6503	2352990	SO:0001583	missense	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.430T>G	19.37:g.2401990T>G	ENSP00000330264:p.Leu144Val		2352990	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.439171	0.01098	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.87650	-2.28	3.25	-5.09	0.02920	.	2.991110	0.02453	N	0.085721	T	0.73814	0.3635	N	0.20530	0.585	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.62695	-0.6800	10	0.13470	T	0.59	.	5.6418	0.17569	0.0:0.2978:0.3213:0.3808	.	144;178	Q7Z410;E7EMP4	TMPS9_HUMAN;.	V	178;144	ENSP00000330264:L144V	ENSP00000330264:L144V	L	+	1	2	TMPRSS9	2352990	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.340000	0.02650	-1.255000	0.02481	-2.043000	0.00416	TTG		0.458	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		G	2401990	T	G	2401990	3	3	219	1	0	0	0	0	1	0	0	0	16253	1606	56	5	444	5	TMPRSS9	19	2401990	Missense_Mutation	SNP	T	TCGA-24-1423-01A-01W-0545-08		2401990	56726993	47	12559											
ATP13A1	57130	broad.mit.edu	37	19	19766160	19766160	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr19:19766160G>T	ENST00000357324.6	-	11	1525	c.1499C>A	c.(1498-1500)gCc>gAc	p.A500D	ATP13A1_ENST00000291503.5_Missense_Mutation_p.A382D|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	500						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.A500D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGTGTTGACGGCCAGGGACAG	0.632																																					Esophageal Squamous(142;920 1789 9047 14684 24777)											1	Substitution - Missense(1)	ovary(1)	19											99	82	87					19																	19766160		2203	4300	6503	19627160	SO:0001583	missense	57130			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1499C>A	19.37:g.19766160G>T	ENSP00000349877:p.Ala500Asp		19627160	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473528	0.84640	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.91686	-2.89;-2.89	5.1	5.1	0.69264	ATPase, P-type, ATPase-associated domain (1);	0.049061	0.85682	D	0.000000	D	0.97470	0.9172	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.925	D	0.98813	1.0744	10	0.87932	D	0	-18.1556	15.9888	0.80183	0.0:0.0:1.0:0.0	.	500;382	Q9HD20;Q9HD20-2	AT131_HUMAN;.	D	382;500	ENSP00000291503:A382D;ENSP00000349877:A500D	ENSP00000291503:A382D	A	-	2	0	ATP13A1	19627160	1.000000	0.71417	0.944000	0.38274	0.610000	0.37248	9.330000	0.96422	2.385000	0.81259	0.561000	0.74099	GCC		0.632	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		T	19766160	G	T	19766160	3	4	219	1	0	0	0	0	1	0	0	0	1123	1203	42	3	2179	3	ATP13A1	19	19766160	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	17364170	19766160	39362823	48	12560											
SYNJ1	8867	broad.mit.edu	37	21	34004044	34004044	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr21:34004044A>G	ENST00000322229.7	-	31	3982	c.3983T>C	c.(3982-3984)cTg>cCg	p.L1328P	SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1367P|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L1281P|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1328	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.L1328P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATTAAATGACAGATCTTCAAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	21											91	89	90					21																	34004044		2203	4300	6503	32925915	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3983T>C	21.37:g.34004044A>G	ENSP00000322234:p.Leu1328Pro		32925915	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951148	0.73787	.	.	ENSG00000159082	ENST00000382491;ENST00000433931;ENST00000322229	D;D;D	0.94376	-3.41;-3.08;-3.06	5.22	5.22	0.72569	.	0.273104	0.31041	N	0.008371	D	0.95414	0.8511	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.95704	0.8752	10	0.62326	D	0.03	.	15.3983	0.74816	1.0:0.0:0.0:0.0	.	1328	O43426	SYNJ1_HUMAN	P	1281;1367;1328	ENSP00000371931:L1281P;ENSP00000409667:L1367P;ENSP00000322234:L1328P	ENSP00000322234:L1328P	L	-	2	0	SYNJ1	32925915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.361000	0.73070	2.104000	0.64026	0.533000	0.62120	CTG		0.413	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				G	34004044	A	G	34004044	3	3	219	1	0	0	0	0	1	0	0	0	15452	188	7	4	742	4	SYNJ1	21	34004044	Missense_Mutation	SNP	A	TCGA-24-1423-01A-01W-0545-08		34004044	14125851	49	12561											
NDUFV3	4731	broad.mit.edu	37	21	44323480	44323480	+	Intron	SNP	A	A	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chr21:44323480A>G	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.T120A|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)	p.T120A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		GTCAAGAAAGACTTTGGTAGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	21											133	147	142					21																	44323480		2203	4300	6503	43196549	SO:0001627	intron_variant	4731				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5494A>G	21.37:g.44323480A>G			43196549	A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539132	0.85917	.	.	ENSG00000160194	ENST00000354250	T	0.40225	1.04	5.84	5.84	0.93424	.	0.131096	0.51477	D	0.000094	T	0.63129	0.2485	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66352	-0.5945	10	0.87932	D	0	-20.5665	14.4434	0.67333	1.0:0.0:0.0:0.0	.	120	P56181-2	.	A	120	ENSP00000346196:T120A	ENSP00000346196:T120A	T	+	1	0	NDUFV3	43196549	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	4.265000	0.58865	2.227000	0.72691	0.533000	0.62120	ACT		0.507	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			G	44323480	A	G	44323480	1	3	219	0	1	0	0	0	0	0	0	0	10301	275	10	4		4	NDUFV3	21	44323480	Intron	SNP	A	TCGA-24-1423-01A-01W-0545-08	10319436	44323480	3806415	50	12562											
FAAH2	158584	broad.mit.edu	37	X	57319015	57319015	+	Splice_Site	SNP	T	T	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chrX:57319015T>G	ENST00000374900.4	+	2	395		c.e2+2			NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2							integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.?(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAAGTACAGGTGAGCATTTCC	0.383										HNSCC(52;0.14)																																						1	Unknown(1)	ovary(1)	X											155	139	144					X																	57319015		2203	4300	6503	57335740	SO:0001630	splice_region_variant	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.275+2T>G	X.37:g.57319015T>G			57335740	Q86VT2|Q96N98	Splice_Site	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292080	0.40594	.	.	ENSG00000165591	ENST00000374900	.	.	.	2.95	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2418	0.26100	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAAH2	57335740	1.000000	0.71417	0.559000	0.28332	0.812000	0.45895	2.731000	0.47343	0.991000	0.38814	0.481000	0.45027	.		0.383	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912	Intron	G	57319015	T	G	57319015	5	3	219	1	0	0	0	0	0	0	1	0	5354	1710	59	5	283	5	FAAH2	23	57319015	Splice_Site	SNP	T	TCGA-24-1423-01A-01W-0545-08		57319015	97951545	51	12563											
ARHGEF9	23229	broad.mit.edu	37	X	62917004	62917004	+	Splice_Site	SNP	C	C	T			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chrX:62917004C>T	ENST00000253401.6	-	4	1362		c.e4+1		ARHGEF9_ENST00000374872.1_Splice_Site|ARHGEF9_ENST00000374870.4_Splice_Site|ARHGEF9_ENST00000374878.1_Splice_Site|ARHGEF9_ENST00000437457.2_Splice_Site|ARHGEF9_ENST00000495564.1_Splice_Site	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9						apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AAGATACTTACGTGCTCTAGG	0.468																																																1	Unknown(1)	ovary(1)	X											104	73	83					X																	62917004		2203	4299	6502	62833729	SO:0001630	splice_region_variant	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.561+1G>A	X.37:g.62917004C>T			62833729	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Splice_Site	SNP	ENST00000253401.6	37	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423570	0.83559	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1464	0.86767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF9	62833729	1.000000	0.71417	0.976000	0.42696	0.891000	0.51852	7.296000	0.78790	2.364000	0.80123	0.513000	0.50165	.		0.468	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		Intron	T	62917004	C	T	62917004	5	4	219	1	0	0	0	0	0	0	1	0	912	550	19	1	1016	1	ARHGEF9	23	62917004	Splice_Site	SNP	C	TCGA-24-1423-01A-01W-0545-08	5597989	62917004	92353556	52	12564											
OPHN1	4983	broad.mit.edu	37	X	67454406	67454406	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chrX:67454406C>G	ENST00000355520.5	-	6	1050	c.409G>C	c.(409-411)Gat>Cat	p.D137H	OPHN1_ENST00000540071.1_Missense_Mutation_p.D137H	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	137					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.D137H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CTCTCACCATCCTTTTCAAAT	0.398																																																1	Substitution - Missense(1)	ovary(1)	X											220	199	206					X																	67454406		2203	4300	6503	67371131	SO:0001583	missense	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.409G>C	X.37:g.67454406C>G	ENSP00000347710:p.Asp137His		67371131	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497891	0.64186	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.39787	1.06;1.06	3.85	3.85	0.44370	IRSp53/MIM homology domain (IMD) (1);	0.111595	0.64402	D	0.000014	T	0.49236	0.1545	L	0.29908	0.895	0.51012	D	0.999901	D;P;D	0.89917	0.97;0.951;1.0	P;P;D	0.67231	0.823;0.847;0.95	T	0.53711	-0.8400	10	0.87932	D	0	.	12.6241	0.56620	0.0:1.0:0.0:0.0	.	137;137;137	F5H2E3;Q6PCC1;O60890	.;.;OPHN1_HUMAN	H	137	ENSP00000347710:D137H;ENSP00000438617:D137H	ENSP00000347710:D137H	D	-	1	0	OPHN1	67371131	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.517000	0.67061	1.918000	0.55548	0.415000	0.27848	GAT		0.398	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		G	67454406	C	G	67454406	3	3	219	1	0	0	0	0	1	0	0	0	10875	855	30	3	2075	3	OPHN1	23	67454406	Missense_Mutation	SNP	C	TCGA-24-1423-01A-01W-0545-08	4537402	67454406	87816154	53	12565											
BRWD3	254065	broad.mit.edu	37	X	79989661	79989674	+	Frame_Shift_Del	DEL	CCAAATAATATATT	CCAAATAATATATT	-	rs183261230		TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	CCAAATAATATATT	CCAAATAATATATT	-	-	CCAAATAATATATT	CCAAATAATATATT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chrX:79989661_79989674delCCAAATAATATATT	ENST00000373275.4	-	11	1245_1258	c.1029_1042delAATATATTATTTGG	c.(1027-1044)agaatatattatttgggtfs	p.IYYLG344fs		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	344					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.I344fs*2(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACCTCAGAACCCAAATAATATATTCTAATCACAT	0.341																																																1	Deletion - Frameshift(1)	ovary(1)	X																																								79876330	SO:0001589	frameshift_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1029_1042delAATATATTATTTGG	X.37:g.79989661_79989674delCCAAATAATATATT	ENSP00000362372:p.Ile344fs		79876317	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Frame_Shift_Del	DEL	ENST00000373275.4	37	CCDS14447.1																																																																																				0.341	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		-	79989674	CCAAATAATATATT	-	79989661	7	5	219	1	0	1	0	1	0	0	0	0	1526	623	22	0	4490	0	BRWD3	23	79989661	Frame_Shift_Del	DEL	CCAAATAATATATT	TCGA-24-1423-01A-01W-0545-08	12535255	79989661	75280899	54	12566											
TBC1D8B	54885	broad.mit.edu	37	X	106113969	106113969	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01A-01W-0545-08	TCGA-24-1423-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	122c9cbe-866e-4c1b-93d9-03b4b0be7bd4	2d825ab5-e200-4522-8e67-959ca2eeb80f	g.chrX:106113969G>C	ENST00000357242.5	+	20	3067	c.2893G>C	c.(2893-2895)Gca>Cca	p.A965P	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.A959P	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	965							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.A965P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGATATTCAAGCATATCTAAG	0.299																																																1	Substitution - Missense(1)	ovary(1)	X											58	56	56					X																	106113969		2203	4294	6497	106000625	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2893G>C	X.37:g.106113969G>C	ENSP00000349781:p.Ala965Pro		106000625	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120762	0.56613	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.29917	1.55;1.55	4.93	4.06	0.47325	EF-hand-like domain (1);	0.131911	0.50627	D	0.000119	T	0.34337	0.0894	M	0.66939	2.045	0.49582	D	0.9998	P	0.39551	0.678	B	0.41374	0.355	T	0.06881	-1.0802	10	0.36615	T	0.2	-0.6802	11.526	0.50580	0.0915:0.0:0.9085:0.0	.	965	Q0IIM8	TBC8B_HUMAN	P	965;959	ENSP00000349781:A965P;ENSP00000276175:A959P	ENSP00000276175:A959P	A	+	1	0	TBC1D8B	106000625	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	4.089000	0.57685	0.858000	0.35431	0.594000	0.82650	GCA		0.299	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		C	106113969	G	C	106113969	3	2	219	1	0	0	0	0	1	0	0	0	15626	971	34	3	3037	3	TBC1D8B	23	106113969	Missense_Mutation	SNP	G	TCGA-24-1423-01A-01W-0545-08	26124308	106113969	49156591	55	12567											
C1orf173	127254	genome.wustl.edu	37	1	75086505	75086505	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr1:75086505G>T	ENST00000326665.5	-	8	1131	c.913C>A	c.(913-915)Cct>Act	p.P305T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.P108T	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		305								p.P305T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGGAAGTCAGGATTATCAGAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	1											123	119	120					1																	75086505		2203	4300	6503	74859093	SO:0001583	missense	127254																														ENST00000326665.5:c.913C>A	1.37:g.75086505G>T	ENSP00000322609:p.Pro305Thr		74859093	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	8.917	0.960197	0.18507	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.16897	2.78;2.31	6.07	-2.93	0.05598	.	.	.	.	.	T	0.02418	0.0074	L	0.29908	0.895	0.09310	N	1	B;B	0.21147	0.019;0.052	B;B	0.21917	0.004;0.037	T	0.46020	-0.9221	9	0.15952	T	0.53	-0.029	2.0313	0.03529	0.4044:0.0901:0.1134:0.3922	.	108;305	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	T	305;108	ENSP00000322609:P305T;ENSP00000398581:P108T	ENSP00000322609:P305T	P	-	1	0	C1orf173	74859093	0.000000	0.05858	0.006000	0.13384	0.980000	0.70556	-0.637000	0.05459	-0.050000	0.13356	0.655000	0.94253	CCT		0.358	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			T	75086505	G	T	75086505	3	4	220	1	0	0	0	0	1	0	0	0	2014	1174	41	3	3707	3	C1orf173	1	75086505	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09		75086505	174164116	1	12568											
TGFBR3	7049	genome.wustl.edu	37	1	92185570	92185570	+	Silent	SNP	G	G	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr1:92185570G>A	ENST00000525962.1	-	8	1354	c.1293C>T	c.(1291-1293)agC>agT	p.S431S	TGFBR3_ENST00000212355.4_Silent_p.S431S|TGFBR3_ENST00000370399.2_Silent_p.S430S			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	431					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.S431S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACAGTTGTATGCTGGGAATGA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	1											144	145	145					1																	92185570		2203	4300	6503	91958158	SO:0001819	synonymous_variant	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1293C>T	1.37:g.92185570G>A			91958158	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	CCDS30770.1																																																																																				0.517	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		A	92185570	G	A	92185570	2	1	220	1	0	0	0	0	0	0	0	1	15823	1310	46	2		2	TGFBR3	1	92185570	Silent	SNP	G	TCGA-24-1424-01A-01W-0549-09	17099065	92185570	157065051	2	12569											
EVI5	7813	genome.wustl.edu	37	1	93169005	93169006	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	AG	AG	AG	GA	AG	AG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr1:93169005_93169006AG>GA	ENST00000370331.1	-	4	651_652	c.642_643CT>TC	c.(640-645)aaCTtt>aaTCtt	p.F215L	RNU4-59P_ENST00000364447.1_RNA|EVI5_ENST00000540033.1_Missense_Mutation_p.F215L|EVI5_ENST00000543509.1_Missense_Mutation_p.F215L	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	215	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCCTTAAAAAAGTTGTGTTCAG	0.342																																																0			1																																								92941594	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.642_643delinsGA	1.37:g.93169005_93169006delinsGA	ENSP00000359356:p.Phe215Leu		92941593	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	DNP	ENST00000370331.1	37	CCDS30774.1																																																																																				0.342	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		GA	93169006	AG	GA	93169005	3	3	220	1	0	0	0	0	1	0	0	0	5289	72	3	4	1849	4	EVI5	1	93169005	Missense_Mutation	DNP	AG	TCGA-24-1424-01A-01W-0549-09	983435	93169005	156081616	3	12570											
STX6	10228	genome.wustl.edu	37	1	180959145	180959145	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr1:180959145A>G	ENST00000258301.5	-	5	701	c.464T>C	c.(463-465)aTt>aCt	p.I155T	STX6_ENST00000469135.1_5'Flank|STX6_ENST00000542060.1_Missense_Mutation_p.I54T	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	155					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)	p.I155T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						CTGCTCCTCAATGAAATGAGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											92	84	86					1																	180959145		2203	4300	6503	179225768	SO:0001583	missense	10228			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.464T>C	1.37:g.180959145A>G	ENSP00000258301:p.Ile155Thr		179225768	B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	ENST00000258301.5	37	CCDS1341.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519227	0.85495	.	.	ENSG00000135823	ENST00000258301;ENST00000542060	.	.	.	5.38	5.38	0.77491	.	0.047558	0.85682	D	0.000000	T	0.65637	0.2710	M	0.64404	1.975	0.39158	D	0.962357	P;D	0.52996	0.915;0.957	B;P	0.52823	0.3;0.71	T	0.75105	-0.3435	8	0.51188	T	0.08	-22.5575	13.6361	0.62223	1.0:0.0:0.0:0.0	.	54;155	B4DR17;O43752	.;STX6_HUMAN	T	155;54	.	ENSP00000258301:I155T	I	-	2	0	STX6	179225768	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.422000	0.90262	2.048000	0.60808	0.460000	0.39030	ATT		0.562	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085143.1	NM_005819		G	180959145	A	G	180959145	3	3	220	1	0	0	0	0	1	0	0	0	15351	101	4	4	319	4	STX6	1	180959145	Missense_Mutation	SNP	A	TCGA-24-1424-01A-01W-0549-09	87790140	180959145	68291476	4	12571											
RD3	343035	genome.wustl.edu	37	1	211654728	211654728	+	Silent	SNP	G	G	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr1:211654728G>A	ENST00000367002.4	-	2	1193	c.30C>T	c.(28-30)aaC>aaT	p.N10N	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	10					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)			p.N10N(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		ATGGGGCCTCGTTCCACCGAA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	1											44	44	44					1																	211654728		2203	4300	6503	209721351	SO:0001819	synonymous_variant	343035			AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"chromosome 1 open reading frame 36"	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.30C>T	1.37:g.211654728G>A			209721351	A8K595	Silent	SNP	ENST00000367002.4	37	CCDS1498.1																																																																																				0.607	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		A	211654728	G	A	211654728	2	1	220	1	0	0	0	0	0	0	0	1	13190	1136	40	1		1	RD3	1	211654728	Silent	SNP	G	TCGA-24-1424-01A-01W-0549-09	30695583	211654728	37595893	5	12572											
NRXN1	9378	genome.wustl.edu	37	2	50149200	50149200	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr2:50149200C>A	ENST00000406316.2	-	22	5792	c.4316G>T	c.(4315-4317)cGa>cTa	p.R1439L	NRXN1_ENST00000406859.3_Missense_Mutation_p.R1439L|NRXN1_ENST00000401710.1_Missense_Mutation_p.R457L|NRXN1_ENST00000342183.5_Missense_Mutation_p.R404L|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1469L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1461L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1461L|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1509L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1439					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R404L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATGTAGTTTCGACTCTCGTC	0.478																																																1	Substitution - Missense(1)	ovary(1)	2											224	181	195					2																	50149200		2203	4300	6503	50002704	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4316G>T	2.37:g.50149200C>A	ENSP00000384311:p.Arg1439Leu		50002704	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.351550|4.351550	0.82132|0.82132	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000412315|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.72942	.|0.82;2.02;0.0;-0.0;-0.7;-0.59;-0.3;-0.14	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Neurexin/syndecan/glycophorin C (1);	.|0.000000	.|0.49305	.|U	.|0.000143	.|D	.|0.85057	.|0.5610	M|M	0.77313|0.77313	2.365|2.365	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D;D;D;P	.|0.71674	.|0.978;0.974;0.998;0.998;0.996;0.917	.|D;P;D;D;D;P	.|0.80764	.|0.969;0.805;0.975;0.994;0.976;0.855	.|D	.|0.86086	.|0.1547	.|10	.|0.87932	.|D	.|0	.|.	19.4587|19.4587	0.94906|0.94906	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|104;1509;404;1439;1458;101	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	X|L	172|404;358;457;1509;1439;1461;1469;1510;1461;1439	.|ENSP00000341184:R404L;ENSP00000385580:R457L;ENSP00000385142:R1509L;ENSP00000384311:R1439L;ENSP00000434015:R1461L;ENSP00000385017:R1469L;ENSP00000385434:R1461L;ENSP00000385681:R1439L	.|ENSP00000341184:R404L	E|R	-|-	1|2	0|0	NRXN1|NRXN1	50002704|50002704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.651000|7.651000	0.83577|0.83577	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.478	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50149200	C	A	50149200	3	1	220	1	0	0	0	0	1	0	0	0	10665	884	31	3	121	3	NRXN1	2	50149200	Missense_Mutation	SNP	C	TCGA-24-1424-01A-01W-0549-09		50149200	193050173	6	12573											
ETAA1	54465	genome.wustl.edu	37	2	67637095	67637095	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr2:67637095A>T	ENST00000272342.5	+	6	2836	c.2706A>T	c.(2704-2706)agA>agT	p.R902S		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	902						cytoplasm (GO:0005737)		p.R902S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGAGAAAAAGACAAGAAGCAC	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											93	111	105					2																	67637095		2203	4300	6503	67490599	SO:0001583	missense	54465			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2706A>T	2.37:g.67637095A>T	ENSP00000272342:p.Arg902Ser		67490599	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134552	0.77662	.	.	ENSG00000143971	ENST00000272342	T	0.34275	1.37	5.98	1.16	0.20824	.	0.053387	0.64402	D	0.000002	T	0.50599	0.1625	M	0.64997	1.995	0.27987	N	0.935822	D	0.89917	1.0	D	0.74348	0.983	T	0.42258	-0.9462	10	0.72032	D	0.01	-4.7801	8.6497	0.34027	0.6943:0.0:0.3057:0.0	.	902	Q9NY74	ETAA1_HUMAN	S	902	ENSP00000272342:R902S	ENSP00000272342:R902S	R	+	3	2	ETAA1	67490599	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	0.824000	0.27379	0.183000	0.20059	0.482000	0.46254	AGA		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		T	67637095	A	T	67637095	3	4	220	1	0	0	0	0	1	0	0	0	5267	272	10	5	2728	5	ETAA1	2	67637095	Missense_Mutation	SNP	A	TCGA-24-1424-01A-01W-0549-09	17487895	67637095	175562278	7	12574											
LCT	3938	genome.wustl.edu	37	2	136594681	136594681	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr2:136594681G>T	ENST00000264162.2	-	1	69	c.59C>A	c.(58-60)tCa>tAa	p.S20*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	20					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S20*(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCCCAGTCTGACCCCCAGCA	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	2											55	58	57					2																	136594681		2203	4300	6503	136311151	SO:0001587	stop_gained	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.59C>A	2.37:g.136594681G>T	ENSP00000264162:p.Ser20*		136311151	Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	g	12.37	1.917956	0.33815	.	.	ENSG00000115850	ENST00000264162	.	.	.	5.16	0.652	0.17823	.	1.842650	0.02944	N	0.140810	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	2.9778	4.4097	0.11427	0.6018:0.0:0.2446:0.1536	.	.	.	.	X	20	.	ENSP00000264162:S20X	S	-	2	0	LCT	136311151	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-0.173000	0.09854	-0.029000	0.13827	0.651000	0.88453	TCA		0.463	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		T	136594681	G	T	136594681	4	4	220	1	0	0	0	0	0	1	0	0	8693	1294	45	3	5792	3	LCT	2	136594681	Nonsense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09	68957586	136594681	106604692	8	12575											
DOCK3	1795	genome.wustl.edu	37	3	51274942	51274942	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr3:51274942C>T	ENST00000266037.9	+	21	2046	c.2023C>T	c.(2023-2025)Cga>Tga	p.R675*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	675					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R675*(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAACCTGCTCCGAGACATCAA	0.468																																																1	Substitution - Nonsense(1)	ovary(1)	3											87	80	83					3																	51274942		1946	4138	6084	51249982	SO:0001587	stop_gained	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2023C>T	3.37:g.51274942C>T	ENSP00000266037:p.Arg675*		51249982	O15017	Nonsense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	38	6.868622	0.97897	.	.	ENSG00000088538	ENST00000266037	.	.	.	5.19	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	14.1129	0.65134	0.2676:0.7324:0.0:0.0	.	.	.	.	X	675	.	ENSP00000266037:R675X	R	+	1	2	DOCK3	51249982	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.327000	0.52045	0.522000	0.28464	0.655000	0.94253	CGA		0.468	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		T	51274942	C	T	51274942	4	4	220	1	0	0	0	0	0	1	0	0	4688	644	23	1	2105	1	DOCK3	3	51274942	Nonsense_Mutation	SNP	C	TCGA-24-1424-01A-01W-0549-09		51274942	146747488	9	12576											
RG9MTD1	54931	genome.wustl.edu	37	3	101284410	101284410	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr3:101284410A>G	ENST00000309922.6	+	2	939	c.785A>G	c.(784-786)tAt>tGt	p.Y262C		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	262	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.Y262C(1)									GTTAAACGGTATCAAGAAAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	3											83	82	83					3																	101284410		1820	4074	5894	102767100	SO:0001583	missense	54931			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.785A>G	3.37:g.101284410A>G	ENSP00000312356:p.Tyr262Cys		102767100	Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483070	0.44147	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.22336	1.96;1.96	6.17	6.17	0.99709	.	0.326251	0.29745	N	0.011315	T	0.45836	0.1362	L	0.61387	1.9	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.26849	-1.0091	10	0.51188	T	0.08	-6.7102	16.8222	0.85835	1.0:0.0:0.0:0.0	.	262	Q7L0Y3	MRRP1_HUMAN	C	262	ENSP00000312356:Y262C;ENSP00000419389:Y262C	ENSP00000312356:Y262C	Y	+	2	0	RG9MTD1	102767100	1.000000	0.71417	0.890000	0.34922	0.104000	0.19210	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	TAT		0.333	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		G	101284410	A	G	101284410	3	3	220	1	0	0	0	0	1	0	0	0	13274	449	16	4	787	4	RG9MTD1	3	101284410	Missense_Mutation	SNP	A	TCGA-24-1424-01A-01W-0549-09	50009468	101284410	96738020	10	12577											
SI	6476	genome.wustl.edu	37	3	164777005	164777005	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	T	T	C	T	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr3:164777005T>C	ENST00000264382.3	-	11	1291	c.1229A>G	c.(1228-1230)cAa>cGa	p.Q410R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	410	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.Q410R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTGCACAAATTGAGGGAGTCC	0.343										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	ovary(1)	3											141	132	135					3																	164777005		2203	4300	6503	166259699	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1229A>G	3.37:g.164777005T>C	ENSP00000264382:p.Gln410Arg		166259699	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.255858	0.39896	.	.	ENSG00000090402	ENST00000264382	D	0.91631	-2.88	5.59	5.59	0.84812	Glycoside hydrolase, superfamily (1);	0.825071	0.11859	N	0.522587	D	0.86264	0.5891	N	0.16656	0.425	0.09310	N	1	B	0.14805	0.011	B	0.19391	0.025	T	0.77598	-0.2528	10	0.59425	D	0.04	.	11.7132	0.51637	0.0:0.0:0.1475:0.8525	.	410	P14410	SUIS_HUMAN	R	410	ENSP00000264382:Q410R	ENSP00000264382:Q410R	Q	-	2	0	SI	166259699	0.293000	0.24371	0.997000	0.53966	0.785000	0.44390	3.089000	0.50183	2.125000	0.65367	0.455000	0.32223	CAA		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		C	164777005	T	C	164777005	3	2	220	1	0	0	0	0	1	0	0	0	14300	1812	63	4	4406	4	SI	3	164777005	Missense_Mutation	SNP	T	TCGA-24-1424-01A-01W-0549-09	63492595	164777005	33245425	11	12578											
FAM193A	8603	genome.wustl.edu	37	4	2661684	2661684	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr4:2661684G>A	ENST00000324666.5	+	8	1126	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	FAM193A_ENST00000502458.1_Missense_Mutation_p.V283M|FAM193A_ENST00000545951.1_Missense_Mutation_p.V259M|FAM193A_ENST00000505311.1_Missense_Mutation_p.V259M|FAM193A_ENST00000382839.3_Missense_Mutation_p.V259M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	259								p.V259M(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CCCGCCCAGTGTGTCATCTGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	4											75	68	70					4																	2661684		2203	4300	6503	2631482	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.775G>A	4.37:g.2661684G>A	ENSP00000324587:p.Val259Met		2631482	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	9.584	1.124262	0.20959	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.29142	1.58;2.01;1.58;1.58;1.61	5.93	3.96	0.45880	.	0.103160	0.64402	D	0.000006	T	0.11281	0.0275	N	0.03608	-0.345	0.29519	N	0.853659	B;B;B;B;B	0.24823	0.112;0.112;0.112;0.063;0.063	B;B;B;B;B	0.17722	0.013;0.013;0.019;0.013;0.013	T	0.06427	-1.0827	10	0.32370	T	0.25	-25.9022	4.5068	0.11893	0.3962:0.0:0.6037:0.0	.	259;283;259;283;259	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	M	259;259;259;283;113	ENSP00000372290:V259M;ENSP00000324587:V259M;ENSP00000443617:V259M;ENSP00000427505:V283M;ENSP00000427260:V113M	ENSP00000324587:V259M	V	+	1	0	FAM193A	2631482	1.000000	0.71417	0.098000	0.21074	0.018000	0.09664	5.538000	0.67193	1.507000	0.48752	0.561000	0.74099	GTG		0.572	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		A	2661684	G	A	2661684	3	1	220	1	0	0	0	0	1	0	0	0	5524	1377	48	2	797	2	FAM193A	4	2661684	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09		2661684	188492592	12	12579											
PCDH7	5099	genome.wustl.edu	37	4	30726071	30726071	+	Silent	SNP	C	C	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr4:30726071C>T	ENST00000361762.2	+	1	4035	c.3027C>T	c.(3025-3027)ccC>ccT	p.P1009P	PCDH7_ENST00000543491.1_Silent_p.P1009P	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1009					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P962P(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGCTTCATCCCCAGTCACCAA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	4											96	97	97					4																	30726071		2203	4300	6503	30335169	SO:0001819	synonymous_variant	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.3027C>T	4.37:g.30726071C>T			30335169	O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	2.761	-0.257816	0.05791	.	.	ENSG00000169851	ENST00000511884	T	0.38722	1.12	5.08	3.34	0.38264	.	.	.	.	.	T	0.43010	0.1228	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44314	-0.9336	6	0.87932	D	0	.	1.6149	0.02701	0.2908:0.4092:0.1409:0.1591	.	.	.	.	S	699	ENSP00000427066:P699S	ENSP00000427066:P699S	P	+	1	0	PCDH7	30335169	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-1.801000	0.01743	0.720000	0.32209	-0.258000	0.10820	CCA		0.512	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		T	30726071	C	T	30726071	2	4	220	1	0	0	0	0	0	0	0	1	11516	610	22	2		2	PCDH7	4	30726071	Silent	SNP	C	TCGA-24-1424-01A-01W-0549-09	28064387	30726071	160428205	13	12580											
AMBN	258	genome.wustl.edu	37	4	71472119	71472119	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr4:71472119C>A	ENST00000322937.6	+	13	1119	c.1016C>A	c.(1015-1017)cCa>cAa	p.P339Q	AMBN_ENST00000449493.2_Missense_Mutation_p.P324Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	339					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.P339Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CTAGAAAACCCAGCTTTCCTT	0.577																																																1	Substitution - Missense(1)	ovary(1)	4											62	61	61					4																	71472119		2203	4300	6503	71506708	SO:0001583	missense	258			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1016C>A	4.37:g.71472119C>A	ENSP00000313809:p.Pro339Gln		71506708	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	9.356	1.066836	0.20067	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.35048	1.33;1.33	5.7	2.93	0.34026	.	0.480210	0.21036	N	0.081252	T	0.30727	0.0774	L	0.39147	1.195	0.26062	N	0.981339	B	0.27700	0.186	B	0.34093	0.175	T	0.25082	-1.0142	10	0.56958	D	0.05	-0.8816	8.5452	0.33417	0.312:0.5374:0.1506:0.0	.	339	Q9NP70	AMBN_HUMAN	Q	339;338;324	ENSP00000313809:P339Q;ENSP00000391234:P324Q	ENSP00000313809:P339Q	P	+	2	0	AMBN	71506708	0.046000	0.20272	0.321000	0.25320	0.001000	0.01503	0.640000	0.24705	0.297000	0.22615	-0.282000	0.10007	CCA		0.577	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		A	71472119	C	A	71472119	3	1	220	1	0	0	0	0	1	0	0	0	563	594	21	3	1066	3	AMBN	4	71472119	Missense_Mutation	SNP	C	TCGA-24-1424-01A-01W-0549-09	40746048	71472119	119682157	14	12581											
STBD1	100631383	genome.wustl.edu	37	4	77230934	77230934	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr4:77230934C>A	ENST00000237642.6	+	2	1602	c.858C>A	c.(856-858)gaC>gaA	p.D286E	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.D137E	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough									p.D286E(1)									TAACTGGAGACCATGAGTGTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	4											199	169	179					4																	77230934		2203	4300	6503	77449958	SO:0001583	missense	8987				CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.858C>A	4.37:g.77230934C>A	ENSP00000237642:p.Asp286Glu		77449958		Missense_Mutation	SNP	ENST00000237642.6	37	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318389	0.40996	.	.	ENSG00000118804	ENST00000539752;ENST00000237642	D;D	0.90197	-2.63;-2.63	5.26	3.55	0.40652	Carbohydrate-binding-like fold (1);Glycoside hydrolase, carbohydrate-binding (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	D	0.94814	0.8325	M	0.86651	2.83	0.33342	D	0.570014	D	0.76494	0.999	D	0.74348	0.983	D	0.95578	0.8644	10	0.72032	D	0.01	-21.8878	9.1534	0.36978	0.0:0.7791:0.0:0.2209	.	286	O95210	STBD1_HUMAN	E	137;286	ENSP00000442265:D137E;ENSP00000237642:D286E	ENSP00000237642:D286E	D	+	3	2	STBD1	77449958	1.000000	0.71417	0.998000	0.56505	0.016000	0.09150	3.261000	0.51530	0.789000	0.33779	0.655000	0.94253	GAC		0.488	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			A	77230934	C	A	77230934	3	1	220	1	0	0	0	0	1	0	0	0	15276	506	18	3	864	3	STBD1	4	77230934	Missense_Mutation	SNP	C	TCGA-24-1424-01A-01W-0549-09	5758815	77230934	113923342	15	12582											
CASP6	839	genome.wustl.edu	37	4	110619483	110619483	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr4:110619483A>C	ENST00000265164.2	-	2	133	c.56T>G	c.(55-57)aTg>aGg	p.M19R	CASP6_ENST00000352981.3_Intron|CASP6_ENST00000505486.1_Missense_Mutation_p.M19R	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	19					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)	p.M19R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TGTTTCTGTCATGTTTTCTTC	0.353																																																1	Substitution - Missense(1)	ovary(1)	4											135	138	137					4																	110619483		2203	4300	6503	110838932	SO:0001583	missense	839			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"Caspases"	1507	protein-coding gene	gene with protein product		601532	"caspase 6, apoptosis-related cysteine protease"			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.56T>G	4.37:g.110619483A>C	ENSP00000265164:p.Met19Arg		110838932	Q9BQE7	Missense_Mutation	SNP	ENST00000265164.2	37	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242475	0.39598	.	.	ENSG00000138794	ENST00000265164;ENST00000503684;ENST00000505486	T;T;T	0.50001	4.38;3.15;0.76	5.24	4.03	0.46877	.	0.973581	0.08535	N	0.931455	T	0.33469	0.0864	N	0.25647	0.755	0.37997	D	0.934108	B	0.25955	0.138	B	0.20955	0.032	T	0.11203	-1.0597	10	0.16420	T	0.52	.	9.9995	0.41920	0.9219:0.0:0.0781:0.0	.	19	P55212	CASP6_HUMAN	R	19;1;19	ENSP00000265164:M19R;ENSP00000427669:M1R;ENSP00000424080:M19R	ENSP00000265164:M19R	M	-	2	0	CASP6	110838932	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.054000	0.57434	2.196000	0.70406	0.528000	0.53228	ATG		0.353	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		C	110619483	A	C	110619483	3	2	220	1	0	0	0	0	1	0	0	0	2675	217	8	5	849	5	CASP6	4	110619483	Missense_Mutation	SNP	A	TCGA-24-1424-01A-01W-0549-09	33388549	110619483	80534793	16	12583											
ANP32C	55016	genome.wustl.edu	37	4	165118803	165118803	+	Intron	SNP	C	C	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr4:165118803C>T	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E21K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGGCAAGTTCTTTCACATCA	0.527																																																1	Substitution - Missense(1)	ovary(1)	4											136	137	137					4																	165118803		2203	4300	6503	165338253	SO:0001627	intron_variant	23520			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85989G>A	4.37:g.165118803C>T			165338253	D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1																																																																																				0.527	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		T	165118803	C	T	165118803	1	4	220	0	1	0	0	0	0	0	0	0	707	922	32	2		2	ANP32C	4	165118803	Intron	SNP	C	TCGA-24-1424-01A-01W-0549-09	54499320	165118803	26035473	17	12584											
GZMA	3001	genome.wustl.edu	37	5	54404085	54404085	+	Missense_Mutation	SNP	G	G	A	rs149445760	byFrequency	TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr5:54404085G>A	ENST00000274306.6	+	4	525	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.D164N(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATCTTGGTCCGATACTCTGAG	0.428													G|||	11	0.00219649	0	0	5008	,	,		17985	0.0109		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5						G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	83	79	81		490	1.8	0	5	dbSNP_134	81	0,8600		0,0,4300	yes	missense	GZMA	NM_006144.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	164/263	54404085	1,13005	2203	4300	6503	54439842	SO:0001583	missense	3001				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"CTL tryptase", "Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.490G>A	5.37:g.54404085G>A	ENSP00000274306:p.Asp164Asn		54439842	A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	CCDS3965.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	G	14.79	2.640852	0.47153	2.27E-4	0.0	ENSG00000145649	ENST00000274306	D	0.89270	-2.49	5.93	1.83	0.25207	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.504313	0.23465	N	0.047890	T	0.69513	0.3119	L	0.43152	1.355	0.27265	N	0.95854	P	0.36378	0.55	B	0.29077	0.098	T	0.65138	-0.6241	10	0.42905	T	0.14	.	9.4054	0.38457	0.3169:0.0:0.6831:0.0	.	164	P12544	GRAA_HUMAN	N	164	ENSP00000274306:D164N	ENSP00000274306:D164N	D	+	1	0	GZMA	54439842	0.015000	0.18098	0.002000	0.10522	0.141000	0.21300	0.165000	0.16564	0.032000	0.15435	-0.136000	0.14681	GAT		0.428	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		A	54404085	G	A	54404085	3	1	220	1	0	0	0	0	1	0	0	0	6915	1058	37	1	504	1	GZMA	5	54404085	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09		54404085	126511175	18	12585											
VCAN	1462	genome.wustl.edu	37	5	82836625	82836625	+	Silent	SNP	A	A	C			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr5:82836625A>C	ENST00000265077.3	+	8	8368	c.7803A>C	c.(7801-7803)gtA>gtC	p.V2601V	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Silent_p.V1614V|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2601	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.V2601V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATACAGAGGTACCATCAGAAC	0.368																																																1	Substitution - coding silent(1)	ovary(1)	5											89	90	89					5																	82836625		2203	4300	6503	82872381	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7803A>C	5.37:g.82836625A>C			82872381	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.368	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82836625	A	C	82836625	2	2	220	1	0	0	0	0	0	0	0	1	17138	378	14	5		5	VCAN	5	82836625	Silent	SNP	A	TCGA-24-1424-01A-01W-0549-09	28432540	82836625	98078635	19	12586											
IL13	3596	genome.wustl.edu	37	5	131994030	131994030	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr5:131994030T>G	ENST00000304506.3	+	1	166	c.152T>G	c.(151-153)gTc>gGc	p.V51G	AC004041.2_ENST00000417516.1_RNA|IL13_ENST00000468334.1_Intron|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000458509.1_RNA	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	51				V -> S (in Ref. 9; no nucleotide entry). {ECO:0000305}.	cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cellular response to cytokine stimulus (GO:0071345)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of lung ciliated cell differentiation (GO:1901247)|negative regulation of transforming growth factor beta production (GO:0071635)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of connective tissue growth factor production (GO:0032723)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of lung goblet cell differentiation (GO:1901251)|positive regulation of macrophage activation (GO:0043032)|positive regulation of pancreatic stellate cell proliferation (GO:2000231)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat6 protein (GO:0042526)|regulation of proton transport (GO:0010155)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.V51G(1)		large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGAGCTGGTCAACATCACC	0.587																																																1	Substitution - Missense(1)	ovary(1)	5											54	47	49					5																	131994030		2203	4300	6503	132021929	SO:0001583	missense	3596			U31120	CCDS4157.1	5q31	2011-07-14			ENSG00000169194	ENSG00000169194		"Interleukins and interleukin receptors"	5973	protein-coding gene	gene with protein product	"allergic rhinitis", "Bronchial hyperresponsiveness-1 (bronchial asthma)"	147683					Standard	NM_002188		Approved	P600, IL-13, ALRH, BHR1, MGC116786, MGC116788, MGC116789	uc003kxj.1	P35225	OTTHUMG00000059723	ENST00000304506.3:c.152T>G	5.37:g.131994030T>G	ENSP00000304915:p.Val51Gly		132021929	O43644|Q4VB52|Q9UDC7	Missense_Mutation	SNP	ENST00000304506.3	37	CCDS4157.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.891876	0.52014	.	.	ENSG00000169194	ENST00000304506	T	0.48522	0.81	5.03	-10.1	0.00402	Four-helical cytokine-like, core (1);Interleukin-4/interleukin-13, conserved site (1);Four-helical cytokine, core (1);	2.143410	0.01804	N	0.033093	T	0.36608	0.0973	L	0.50333	1.59	0.09310	N	0.999996	B	0.12630	0.006	B	0.14023	0.01	T	0.22208	-1.0223	10	0.40728	T	0.16	-1.2533	7.9687	0.30115	0.5377:0.0:0.3142:0.1481	.	51	P35225	IL13_HUMAN	G	51	ENSP00000304915:V51G	ENSP00000304915:V51G	V	+	2	0	IL13	132021929	0.000000	0.05858	0.002000	0.10522	0.708000	0.40852	-3.479000	0.00457	-1.437000	0.01967	-0.336000	0.08194	GTC		0.587	IL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132782.1	NM_002188		G	131994030	T	G	131994030	3	3	220	1	0	0	0	0	1	0	0	0	7628	1667	58	5	154	5	IL13	5	131994030	Missense_Mutation	SNP	T	TCGA-24-1424-01A-01W-0549-09	49157405	131994030	48921230	20	12587											
PCDHB13	56123	genome.wustl.edu	37	5	140595880	140595880	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr5:140595880G>A	ENST00000341948.4	+	1	2372	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	729					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)	p.E729K(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGGTGCCCGAGGGCCCCCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	5											91	101	98					5																	140595880		2203	4300	6503	140576064	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2185G>A	5.37:g.140595880G>A	ENSP00000345491:p.Glu729Lys		140576064	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	12.37	1.918789	0.33908	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.49720	0.77	3.88	-0.157	0.13387	.	.	.	.	.	T	0.42359	0.1199	M	0.66939	2.045	0.21325	N	0.999727	B	0.11235	0.004	B	0.12837	0.008	T	0.36792	-0.9733	9	0.35671	T	0.21	.	7.9261	0.29876	0.1818:0.1332:0.685:0.0	.	729	Q9Y5F0	PCDBD_HUMAN	K	729;729;675	ENSP00000345491:E729K	ENSP00000345491:E729K	E	+	1	0	PCDHB13	140576064	0.015000	0.18098	0.021000	0.16686	0.009000	0.06853	0.741000	0.26202	-0.029000	0.13827	-2.347000	0.00243	GAG		0.637	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		A	140595880	G	A	140595880	3	1	220	1	0	0	0	0	1	0	0	0	11538	1059	37	1	2187	1	PCDHB13	5	140595880	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09	8601850	140595880	40319380	21	12588											
OR2V2	285659	genome.wustl.edu	37	5	180582342	180582342	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr5:180582342C>A	ENST00000328275.1	+	1	400	c.400C>A	c.(400-402)Ccc>Acc	p.P134T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P134T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTTCACTATCCCATCCTCAT	0.498																																																1	Substitution - Missense(1)	ovary(1)	5											98	95	96					5																	180582342		2203	4300	6503	180514948	SO:0001583	missense	285659			AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.400C>A	5.37:g.180582342C>A	ENSP00000332185:p.Pro134Thr		180514948	Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	6.590	0.477255	0.12521	.	.	ENSG00000182613	ENST00000328275	T	0.01119	5.31	3.27	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33938	N	0.004414	T	0.00724	0.0024	N	0.12831	0.26	0.24261	N	0.995284	P	0.41420	0.749	B	0.36186	0.219	T	0.54563	-0.8275	10	0.41790	T	0.15	.	5.3359	0.15957	0.0:0.7317:0.0:0.2683	.	134	Q96R30	OR2V2_HUMAN	T	134	ENSP00000332185:P134T	ENSP00000332185:P134T	P	+	1	0	OR2V2	180514948	0.000000	0.05858	0.886000	0.34754	0.684000	0.39900	-3.040000	0.00633	0.703000	0.31848	0.305000	0.20034	CCC		0.498	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			A	180582342	C	A	180582342	3	1	220	1	0	0	0	0	1	0	0	0	11031	855	30	3	402	3	OR2V2	5	180582342	Missense_Mutation	SNP	C	TCGA-24-1424-01A-01W-0549-09	39986462	180582342	332918	22	12589											
OR12D2	26529	genome.wustl.edu	37	6	29365185	29365185	+	Silent	SNP	C	C	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr6:29365185C>T	ENST00000383555.2	+	1	770	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L237L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTGTAAAGCACTGTCCACTTG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	6											225	217	220					6																	29365185		1511	2708	4219	29473164	SO:0001819	synonymous_variant	26529				CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.709C>T	6.37:g.29365185C>T			29473164	B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	CCDS4659.1																																																																																				0.438	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			T	29365185	C	T	29365185	2	4	220	1	0	0	0	0	0	0	0	1	10931	564	20	2		2	OR12D2	6	29365185	Silent	SNP	C	TCGA-24-1424-01A-01W-0549-09		29365185	141749882	23	12590											
KCNK16	83795	genome.wustl.edu	37	6	39285600	39285600	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr6:39285600C>T	ENST00000373229.5	-	3	470	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	KCNK16_ENST00000425054.2_Missense_Mutation_p.A153T|KCNK16_ENST00000373227.4_Missense_Mutation_p.A153T|KCNK16_ENST00000507712.1_Missense_Mutation_p.A88T|KCNK16_ENST00000437525.2_Missense_Mutation_p.A153T	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	153					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A153T(1)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTTTCAATGGCGGCCAGATGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	6											36	33	34					6																	39285600		2203	4300	6503	39393578	SO:0001583	missense	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.457G>A	6.37:g.39285600C>T	ENSP00000362326:p.Ala153Thr		39393578	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	T	3.135	-0.177590	0.06380	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.35	-0.0725	0.13739	.	0.916437	0.09528	N	0.790004	T	0.02380	0.0073	N	0.04090	-0.28	0.09310	N	1	B;B;B;B	0.12013	0.0;0.005;0.0;0.0	B;B;B;B	0.13407	0.0;0.009;0.0;0.001	T	0.47471	-0.9115	10	0.08381	T	0.77	.	6.3315	0.21272	0.0:0.3631:0.1323:0.5046	.	153;153;153;153	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	T	153;153;88;153;153	ENSP00000362326:A153T;ENSP00000391498:A153T;ENSP00000423842:A88T;ENSP00000362324:A153T;ENSP00000415375:A153T	ENSP00000362324:A153T	A	-	1	0	KCNK16	39393578	0.003000	0.15002	0.112000	0.21494	0.621000	0.37620	0.086000	0.14935	-0.184000	0.10567	-0.361000	0.07541	GCC		0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		T	39285600	C	T	39285600	3	4	220	1	0	0	0	0	1	0	0	0	8063	768	27	1	873	1	KCNK16	6	39285600	Missense_Mutation	SNP	C	TCGA-24-1424-01A-01W-0549-09	9920415	39285600	131829467	24	12591											
CCDC132	55610	genome.wustl.edu	37	7	92985338	92985338	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr7:92985338T>G	ENST00000305866.5	+	27	2849	c.2721T>G	c.(2719-2721)atT>atG	p.I907M	CCDC132_ENST00000535481.1_Missense_Mutation_p.I627M|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.I877M|CCDC132_ENST00000541136.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	907						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.I907M(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAACTTATATTAAAGCTTATT	0.323																																																1	Substitution - Missense(1)	ovary(1)	7											45	45	45					7																	92985338		1825	4078	5903	92823274	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2721T>G	7.37:g.92985338T>G	ENSP00000307666:p.Ile907Met		92823274	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.00|14.00	2.405557|2.405557	0.42715|0.42715	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481|ENST00000443443	.|.	.|.	.|.	5.77|5.77	-0.849|-0.849	0.10723|0.10723	Protein of unknown function DUF2451, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71888|.	0.3393|.	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.997;0.991|.	D;D;D|.	0.83275|.	0.996;0.994;0.986|.	T|.	0.72717|.	-0.4209|.	9|.	0.87932|.	D|.	0|.	-20.0147|-20.0147	12.118|12.118	0.53875|0.53875	0.0:0.5343:0.0:0.4657|0.0:0.5343:0.0:0.4657	.|.	627;877;907|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	M|E	907;877;627|132	.|.	ENSP00000307666:I907M|.	I|X	+|+	3|1	3|0	CCDC132|CCDC132	92823274|92823274	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.254000|0.254000	0.26022|0.26022	1.455000|1.455000	0.35190|0.35190	-0.005000|-0.005000	0.14395|0.14395	-1.007000|-1.007000	0.02485|0.02485	ATT|TAA		0.323	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		G	92985338	T	G	92985338	3	3	220	1	0	0	0	0	1	0	0	0	2767	1742	61	5	2869	5	CCDC132	7	92985338	Missense_Mutation	SNP	T	TCGA-24-1424-01A-01W-0549-09		92985338	66153325	25	12592											
RINT1	60561	genome.wustl.edu	37	7	105187424	105187424	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr7:105187424G>T	ENST00000257700.2	+	5	814	c.583G>T	c.(583-585)Gca>Tca	p.A195S		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	195					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.A195S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGTCTATGGCAGAACTTGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	7											117	100	106					7																	105187424		2203	4300	6503	104974660	SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.583G>T	7.37:g.105187424G>T	ENSP00000257700:p.Ala195Ser		104974660	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011486	0.35511	.	.	ENSG00000135249	ENST00000257700	T	0.23147	1.92	5.26	4.13	0.48395	.	0.115584	0.64402	D	0.000012	T	0.19366	0.0465	L	0.42245	1.32	0.50313	D	0.999867	B	0.27853	0.191	B	0.26770	0.073	T	0.02852	-1.1102	10	0.09084	T	0.74	-8.3789	11.3866	0.49789	0.1166:0.0:0.8834:0.0	.	195	Q6NUQ1	RINT1_HUMAN	S	195	ENSP00000257700:A195S	ENSP00000257700:A195S	A	+	1	0	RINT1	104974660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.291000	0.72719	0.887000	0.36136	0.563000	0.77884	GCA		0.368	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		T	105187424	G	T	105187424	3	4	220	1	0	0	0	0	1	0	0	0	13379	1203	42	3	601	3	RINT1	7	105187424	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09	12202086	105187424	53951239	26	12593											
SLC26A4	5172	genome.wustl.edu	37	7	107342418	107342418	+	Silent	SNP	T	T	C			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr7:107342418T>C	ENST00000265715.3	+	17	2174	c.1950T>C	c.(1948-1950)gtT>gtC	p.V650V	SLC26A4_ENST00000543100.1_Silent_p.V219V|SLC26A4_ENST00000541474.1_Silent_p.V211V|SLC26A4_ENST00000544569.1_Silent_p.V237V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	650	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.V650V(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAGTGAACGTTCCCAAAGTGC	0.453									Pendred syndrome																																							1	Substitution - coding silent(1)	ovary(1)	7											130	109	116					7																	107342418		2203	4300	6503	107129654	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1950T>C	7.37:g.107342418T>C			107129654	B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.453	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		C	107342418	T	C	107342418	2	2	220	1	0	0	0	0	0	0	0	1	14522	1770	62	4		4	SLC26A4	7	107342418	Silent	SNP	T	TCGA-24-1424-01A-01W-0549-09	2154994	107342418	51796245	27	12594											
SLC7A2	6542	genome.wustl.edu	37	8	17407850	17407850	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr8:17407850G>C	ENST00000494857.1	+	6	957	c.739G>C	c.(739-741)Ggt>Cgt	p.G247R	SLC7A2_ENST00000522656.1_Missense_Mutation_p.G247R|SLC7A2_ENST00000470360.1_Missense_Mutation_p.G287R|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G287R|SLC7A2_ENST00000398090.3_Missense_Mutation_p.G287R	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	247					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.G247R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTATGGGGCTGGTGGCTTTAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	8											205	166	179					8																	17407850		2203	4300	6503	17452228	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.739G>C	8.37:g.17407850G>C	ENSP00000419140:p.Gly247Arg		17452228	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155020	0.94686	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.91295	-2.68;-2.68;-2.82;-2.7;-2.82	5.62	5.62	0.85841	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.96;0.998	D	0.98338	1.0537	10	0.87932	D	0	.	20.0425	0.97596	0.0:0.0:1.0:0.0	.	287;287;247	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	R	247;247;287;287;287	ENSP00000419140:G247R;ENSP00000430464:G247R;ENSP00000419873:G287R;ENSP00000004531:G287R;ENSP00000381164:G287R	ENSP00000004531:G287R	G	+	1	0	SLC7A2	17452228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GGT		0.448	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		C	17407850	G	C	17407850	3	2	220	1	0	0	0	0	1	0	0	0	14700	1348	47	3	877	3	SLC7A2	8	17407850	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09		17407850	128956172	28	12595											
GNA14	9630	genome.wustl.edu	37	9	80049381	80049381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr9:80049381C>A	ENST00000341700.6	-	3	880	c.367G>T	c.(367-369)Gag>Tag	p.E123*	GNA14_ENST00000464095.1_5'Flank	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	123					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E123*(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCACCTGCTCCCTGGAGAGC	0.522											OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	ovary(1)	9											125	99	108					9																	80049381		2203	4300	6503	79239201	SO:0001587	stop_gained	9630			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.367G>T	9.37:g.80049381C>A	ENSP00000365807:p.Glu123*	1195	79239201	B1ALW3	Nonsense_Mutation	SNP	ENST00000341700.6	37	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	39	7.711779	0.98447	.	.	ENSG00000156049	ENST00000341700	.	.	.	5.19	3.21	0.36854	.	0.595446	0.18919	N	0.127533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.6748	0.12706	0.0:0.6089:0.0:0.3911	.	.	.	.	X	123	.	ENSP00000365807:E123X	E	-	1	0	GNA14	79239201	0.046000	0.20272	1.000000	0.80357	0.910000	0.53928	0.841000	0.27613	1.435000	0.47434	0.655000	0.94253	GAG		0.522	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			A	80049381	C	A	80049381	4	1	220	1	0	0	0	0	0	1	0	0	6502	864	30	3	720	3	GNA14	9	80049381	Nonsense_Mutation	SNP	C	TCGA-24-1424-01A-01W-0549-09		80049381	61164050	29	12596											
SFMBT2	57713	genome.wustl.edu	37	10	7239537	7239537	+	Silent	SNP	C	C	G	rs200717836		TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr10:7239537C>G	ENST00000361972.4	-	15	1761	c.1671G>C	c.(1669-1671)ccG>ccC	p.P557P	SFMBT2_ENST00000397167.1_Silent_p.P557P	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	557					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.P557P(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CGCATTTGCCCGGTCCCACCG	0.473																																																1	Substitution - coding silent(1)	ovary(1)	10											114	108	110					10																	7239537		2203	4300	6503	7279543	SO:0001819	synonymous_variant	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1671G>C	10.37:g.7239537C>G			7279543	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.473	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		G	7239537	C	G	7239537	2	3	220	1	0	0	0	0	0	0	0	1	14161	639	23	3		3	SFMBT2	10	7239537	Silent	SNP	C	TCGA-24-1424-01A-01W-0549-09		7239537	128295210	30	12597											
KIN	22944	genome.wustl.edu	37	10	7822036	7822036	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr10:7822036T>C	ENST00000379562.4	-	4	406	c.359A>G	c.(358-360)aAg>aGg	p.K120R	KIN_ENST00000535925.1_Missense_Mutation_p.K120R|KIN_ENST00000543003.1_Missense_Mutation_p.K14R	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein									p.K120R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GCCCAGCCACTTAGTAAAATC	0.403																																																1	Substitution - Missense(1)	ovary(1)	10											168	149	155					10																	7822036		2203	4300	6503	7862042	SO:0001583	missense	22944			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"antigenic determinant of recA protein (mouse) homolog", "KIN, antigenic determinant of recA protein homolog (mouse)"			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.359A>G	10.37:g.7822036T>C	ENSP00000368881:p.Lys120Arg		7862042		Missense_Mutation	SNP	ENST00000379562.4	37	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620479	0.87460	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.74	5.74	0.90152	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	M	0.81682	2.555	0.80722	D	1	B;D;D	0.56035	0.412;0.974;0.974	B;D;D	0.75484	0.097;0.986;0.986	T	0.81197	-0.1042	9	0.51188	T	0.08	-27.9075	14.6061	0.68481	0.0:0.0:0.0:1.0	.	14;120;120	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	R	120;120;14	.	ENSP00000368881:K120R	K	-	2	0	KIN	7862042	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	7.649000	0.83500	2.186000	0.69663	0.533000	0.62120	AAG		0.403	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		C	7822036	T	C	7822036	3	2	220	1	0	0	0	0	1	0	0	0	8315	1609	56	4	862	4	KIN	10	7822036	Missense_Mutation	SNP	T	TCGA-24-1424-01A-01W-0549-09	582499	7822036	127712711	31	12598											
VWCE	220001	genome.wustl.edu	37	11	61041992	61041992	+	Silent	SNP	C	C	T	rs540936887		TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr11:61041992C>T	ENST00000335613.5	-	12	1946	c.1560G>A	c.(1558-1560)gaG>gaA	p.E520E	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	520	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E520E(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGTGGTACACTCGTCACCAC	0.552													C|||	1	0.000199681	0	0.0014	5008	,	,		19383	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	11											222	134	164					11																	61041992		2203	4299	6502	60798568	SO:0001819	synonymous_variant	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1560G>A	11.37:g.61041992C>T			60798568	A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	CCDS8002.1																																																																																				0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		T	61041992	C	T	61041992	2	4	220	1	0	0	0	0	0	0	0	1	17245	564	20	2		2	VWCE	11	61041992	Silent	SNP	C	TCGA-24-1424-01A-01W-0549-09		61041992	73964524	32	12599											
FAT3	120114	genome.wustl.edu	37	11	92085537	92085537	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr11:92085537G>A	ENST00000298047.6	+	1	276	c.259G>A	c.(259-261)Gac>Aac	p.D87N	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000409404.2_Missense_Mutation_p.D87N|FAT3_ENST00000541502.1_Missense_Mutation_p.D87N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D87N(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGTCCGGAGACGAGGAAGG	0.418										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											88	87	88					11																	92085537		1891	4117	6008	91725185	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.259G>A	11.37:g.92085537G>A	ENSP00000298047:p.Asp87Asn		91725185	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.416400	0.83449	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.60424	0.19;0.19;0.19	5.53	5.53	0.82687	.	.	.	.	.	T	0.70806	0.3266	L	0.49126	1.545	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.63207	-0.6689	9	0.20519	T	0.43	.	18.8073	0.92043	0.0:0.0:1.0:0.0	.	87	Q8TDW7-3	.	N	87	ENSP00000298047:D87N;ENSP00000387040:D87N;ENSP00000443786:D87N	ENSP00000298047:D87N	D	+	1	0	FAT3	91725185	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	7.871000	0.87180	2.756000	0.94617	0.655000	0.94253	GAC		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92085537	G	A	92085537	3	1	220	1	0	0	0	0	1	0	0	0	5691	942	33	2	261	2	FAT3	11	92085537	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09	31043545	92085537	42920979	33	12600											
ARHGAP20	57569	genome.wustl.edu	37	11	110450709	110450709	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr11:110450709G>T	ENST00000260283.4	-	16	3245	c.2961C>A	c.(2959-2961)gaC>gaA	p.D987E	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D964E|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D951E|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D951E|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D961E|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D961E|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D530E	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	987					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D987E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CAGGAGAAAGGTCTTCCCGTT	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											58	56	57					11																	110450709		2201	4298	6499	109955919	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2961C>A	11.37:g.110450709G>T	ENSP00000260283:p.Asp987Glu		109955919	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-4.157260	0.00001	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.06768	3.26;3.26;3.33;3.26;3.26;3.26;3.26	5.9	-1.62	0.08372	.	0.650450	0.15694	N	0.249276	T	0.01092	0.0036	N	0.00162	-1.95	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.40459	-0.9562	10	0.02654	T	1	.	2.6332	0.04950	0.1689:0.309:0.333:0.1892	.	961;987;964	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	E	987;961;530;964;951;961;951	ENSP00000260283:D987E;ENSP00000349660:D961E;ENSP00000437905:D530E;ENSP00000432076:D964E;ENSP00000436319:D951E;ENSP00000436522:D961E;ENSP00000431399:D951E	ENSP00000260283:D987E	D	-	3	2	ARHGAP20	109955919	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	-0.944000	0.03913	-0.394000	0.07727	-0.751000	0.03497	GAC		0.498	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		T	110450709	G	T	110450709	3	4	220	1	0	0	0	0	1	0	0	0	870	1252	44	3	618	3	ARHGAP20	11	110450709	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09	18365172	110450709	24555807	34	12601											
ING1	3621	genome.wustl.edu	37	13	111372144	111372144	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr13:111372144G>T	ENST00000375774.3	+	2	1596	c.1134G>T	c.(1132-1134)tgG>tgT	p.W378C	ING1_ENST00000375775.3_Missense_Mutation_p.W166C|ING1_ENST00000333219.7_Missense_Mutation_p.W235C|ING1_ENST00000338450.7_Missense_Mutation_p.W191C	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	378					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.W235C(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCATCGAGTGGTTCCACTTCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	13											80	71	74					13																	111372144		2203	4300	6503	110170145	SO:0001583	missense	3621				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.1134G>T	13.37:g.111372144G>T	ENSP00000364929:p.Trp378Cys		110170145	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253273	0.80135	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.5	5.5	0.81552	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	H	0.99169	4.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.995	D	0.92550	0.6049	10	0.87932	D	0	-40.1282	19.3838	0.94548	0.0:0.0:1.0:0.0	.	378;235;191	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	C	191;235;166;378	ENSP00000345202:W191C;ENSP00000328436:W235C;ENSP00000364930:W166C;ENSP00000364929:W378C	ENSP00000328436:W235C	W	+	3	0	ING1	110170145	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.224000	0.95209	2.586000	0.87340	0.491000	0.48974	TGG		0.587	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		T	111372144	G	T	111372144	3	4	220	1	0	0	0	0	1	0	0	0	7735	1270	44	3	1288	3	ING1	13	111372144	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09		111372144	3797734	35	12602											
KIAA1409	57578	genome.wustl.edu	37	14	94079386	94079386	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr14:94079386G>A	ENST00000393151.2	+	27	3998	c.3998G>A	c.(3997-3999)cGc>cAc	p.R1333H	UNC79_ENST00000555664.1_Missense_Mutation_p.R1333H|UNC79_ENST00000256339.4_Missense_Mutation_p.R1156H|UNC79_ENST00000553484.1_Missense_Mutation_p.R1355H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1333					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1156H(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAAAAAATGCGCCTGTCAACT	0.443																																																1	Substitution - Missense(1)	ovary(1)	14											128	108	114					14																	94079386		2203	4300	6503	93149139	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3998G>A	14.37:g.94079386G>A	ENSP00000376858:p.Arg1333His		93149139	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	32	5.173043	0.94807	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.35236	1.37;1.32;1.36;1.37	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	L	0.60455	1.87	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	T	0.60520	-0.7247	10	0.87932	D	0	-17.6195	19.5316	0.95231	0.0:0.0:1.0:0.0	.	1355	C9JQL1	.	H	1156;1333;1355;1333;1355	ENSP00000256339:R1156H;ENSP00000450868:R1333H;ENSP00000451360:R1355H;ENSP00000376858:R1333H	ENSP00000256339:R1156H	R	+	2	0	KIAA1409	93149139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.853000	0.99521	2.617000	0.88574	0.650000	0.86243	CGC		0.443	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		A	94079386	G	A	94079386	3	1	220	1	0	0	0	0	1	0	0	0	8230	1087	38	1	3561	1	KIAA1409	14	94079386	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09		94079386	13270154	36	12603											
OR4M2	390538	genome.wustl.edu	37	15	22368759	22368759	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr15:22368759C>A	ENST00000332663.2	+	1	282	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L62M(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TATGTATTTCCTGTTGGCTAA	0.388																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	15											494	428	450					15																	22368759		2203	4300	6503	19870123	SO:0001583	missense	390538			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.184C>A	15.37:g.22368759C>A	ENSP00000329467:p.Leu62Met		19870123	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	14.73	2.622476	0.46840	.	.	ENSG00000182974	ENST00000332663	T	0.03152	4.03	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002434	T	0.12817	0.0311	M	0.86028	2.79	0.26793	N	0.969362	D	0.65815	0.995	P	0.59703	0.862	T	0.02484	-1.1152	10	0.72032	D	0.01	-6.7748	5.3487	0.16024	0.0:0.8342:0.0:0.1658	.	62	Q8NGB6	OR4M2_HUMAN	M	62	ENSP00000329467:L62M	ENSP00000329467:L62M	L	+	1	2	OR4M2	19870123	0.001000	0.12720	1.000000	0.80357	0.984000	0.73092	-0.131000	0.10482	1.422000	0.47177	0.448000	0.29417	CTG		0.388	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			A	22368759	C	A	22368759	3	1	220	1	0	0	0	0	1	0	0	0	11076	680	24	3	186	3	OR4M2	15	22368759	Missense_Mutation	SNP	C	TCGA-24-1424-01A-01W-0549-09		22368759	80162633	37	12604											
CHRNA7	1139	genome.wustl.edu	37	15	32450703	32450703	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr15:32450703C>T	ENST00000306901.3	+	7	786	c.689C>T	c.(688-690)aCg>aTg	p.T230M	CHRNA7_ENST00000455693.2_Missense_Mutation_p.T49M|CHRNA7_ENST00000454250.3_Missense_Mutation_p.T259M	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	230					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)	p.T230M(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CGCCGCAGGACGCTCTACTAT	0.582																																					Esophageal Squamous(193;529 2900 40232 43193)											1	Substitution - Missense(1)	ovary(1)	15											124	104	111					15																	32450703		2200	4297	6497	30237995	SO:0001583	missense	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.689C>T	15.37:g.32450703C>T	ENSP00000303727:p.Thr230Met		30237995	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	c	23.4	4.412940	0.83449	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693;ENST00000454016	D;D;D	0.85411	-1.98;-1.98;-1.98	4.51	4.51	0.55191	Neurotransmitter-gated ion-channel ligand-binding (2);Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94833	0.8331	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96264	0.9193	10	0.87932	D	0	.	15.1122	0.72368	0.0:1.0:0.0:0.0	.	259;126;230	B4DFS0;B1N7G6;P36544	.;.;ACHA7_HUMAN	M	140;259;230;49;154	ENSP00000407546:T259M;ENSP00000303727:T230M;ENSP00000405989:T49M	ENSP00000303727:T230M	T	+	2	0	CHRNA7	30237995	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.303000	0.78871	2.502000	0.84385	0.484000	0.47621	ACG		0.582	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			T	32450703	C	T	32450703	3	4	220	1	0	0	0	0	1	0	0	0	3388	536	19	1	715	1	CHRNA7	15	32450703	Missense_Mutation	SNP	C	TCGA-24-1424-01A-01W-0549-09	10081944	32450703	70080689	38	12605											
C15orf23	90417	genome.wustl.edu	37	15	40684206	40684206	+	Silent	SNP	G	G	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr15:40684206G>A	ENST00000249776.8	+	8	919	c.804G>A	c.(802-804)aaG>aaA	p.K268K	KNSTRN_ENST00000448395.2_3'UTR|KNSTRN_ENST00000416151.2_Silent_p.K268K|KNSTRN_ENST00000608100.1_Silent_p.K190K	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein									p.K268K(1)									CAGCCAAAAAGCAGATGGAGG	0.378																																																1	Substitution - coding silent(1)	ovary(1)	15											141	136	137					15																	40684206		1900	4117	6017	38471498	SO:0001819	synonymous_variant	90417			AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"small kinetochore-associated protein", "kinetochore-localized astrin-binding protein", "TRAF4 associated factor 1"	614718	"chromosome 15 open reading frame 23"	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.804G>A	15.37:g.40684206G>A			38471498		Silent	SNP	ENST00000249776.8	37	CCDS42021.1																																																																																				0.378	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		A	40684206	G	A	40684206	2	1	220	1	0	0	0	0	0	0	0	1	1785	962	34	2		2	C15orf23	15	40684206	Silent	SNP	G	TCGA-24-1424-01A-01W-0549-09	8233503	40684206	61847186	39	12606											
CDH8	1006	genome.wustl.edu	37	16	61689507	61689507	+	Silent	SNP	G	G	T			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr16:61689507G>T	ENST00000577390.1	-	11	2727	c.1773C>A	c.(1771-1773)acC>acA	p.T591T	CDH8_ENST00000299345.6_Silent_p.T591T|CDH8_ENST00000577730.1_Silent_p.T591T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	591	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.T591T(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGATTGTCAAGGTGCTAGTGC	0.468																																																1	Substitution - coding silent(1)	ovary(1)	16											159	136	144					16																	61689507		2203	4300	6503	60247008	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1773C>A	16.37:g.61689507G>T			60247008	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.468	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		T	61689507	G	T	61689507	2	4	220	1	0	0	0	0	0	0	0	1	3116	987	35	3		3	CDH8	16	61689507	Silent	SNP	G	TCGA-24-1424-01A-01W-0549-09		61689507	28665246	40	12607											
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	220	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-24-1424-01A-01W-0549-09		7578265	73616945	41	12608											
HAP1	9001	genome.wustl.edu	37	17	39889011	39889011	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr17:39889011G>C	ENST00000310778.5	-	2	518	c.509C>G	c.(508-510)aCc>aGc	p.T170S	HAP1_ENST00000347901.4_Missense_Mutation_p.T170S|HAP1_ENST00000341193.5_Missense_Mutation_p.T170S|HAP1_ENST00000393939.2_Missense_Mutation_p.T170S|RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	170	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.T170S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTCTTCCTGGGTGATCTTTTT	0.532																																																1	Substitution - Missense(1)	ovary(1)	17											146	127	134					17																	39889011		2203	4300	6503	37142537	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.509C>G	17.37:g.39889011G>C	ENSP00000309392:p.Thr170Ser		37142537	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	G	11.76	1.735869	0.30774	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	3.0	3.0	0.34707	.	0.000000	0.39341	N	0.001391	T	0.54271	0.1848	M	0.71581	2.175	0.25717	N	0.985417	D;D;D;D	0.69078	0.996;0.996;0.996;0.997	D;D;D;D	0.77004	0.98;0.971;0.98;0.989	T	0.38607	-0.9653	10	0.72032	D	0.01	-22.5336	9.7308	0.40359	0.0:0.0:1.0:0.0	.	170;170;170;170	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	S	170	ENSP00000377513:T170S;ENSP00000309392:T170S;ENSP00000334002:T170S;ENSP00000343170:T170S	ENSP00000309392:T170S	T	-	2	0	HAP1	37142537	0.971000	0.33674	0.987000	0.45799	0.006000	0.05464	0.735000	0.26115	1.985000	0.57927	0.455000	0.32223	ACC		0.532	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		C	39889011	G	C	39889011	3	2	220	1	0	0	0	0	1	0	0	0	6953	1261	44	3	1414	3	HAP1	17	39889011	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09	32310746	39889011	41306199	42	12609											
MIB1	57534	genome.wustl.edu	37	18	19429212	19429212	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr18:19429212G>C	ENST00000261537.6	+	17	2713	c.2449G>C	c.(2449-2451)Gaa>Caa	p.E817Q	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	817					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E817Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGAAACCTTAGAAGAGTGTAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	18											202	201	201					18																	19429212		2203	4300	6503	17683210	SO:0001583	missense	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2449G>C	18.37:g.19429212G>C	ENSP00000261537:p.Glu817Gln		17683210	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406322	0.42715	.	.	ENSG00000101752	ENST00000261537	T	0.79033	-1.23	5.33	5.33	0.75918	.	0.049516	0.85682	D	0.000000	T	0.70228	0.3200	L	0.31804	0.96	0.80722	D	1	B	0.20887	0.049	B	0.29663	0.105	T	0.64202	-0.6463	10	0.14656	T	0.56	-21.8019	19.042	0.93004	0.0:0.0:1.0:0.0	.	817	Q86YT6	MIB1_HUMAN	Q	817	ENSP00000261537:E817Q	ENSP00000261537:E817Q	E	+	1	0	MIB1	17683210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.494000	0.84150	0.585000	0.79938	GAA		0.363	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		C	19429212	G	C	19429212	3	2	220	1	0	0	0	0	1	0	0	0	9566	943	33	3	2515	3	MIB1	18	19429212	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09		19429212	58648036	43	12610											
CEP250	11190	genome.wustl.edu	37	20	34091857	34091857	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr20:34091857A>G	ENST00000397527.1	+	30	6380	c.5660A>G	c.(5659-5661)gAg>gGg	p.E1887G	CEP250_ENST00000342580.4_Missense_Mutation_p.E1831G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1887	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E1887G(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCCTGGAGGAGGTGCTGGGA	0.622																																																1	Substitution - Missense(1)	ovary(1)	20																																								33555271	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5660A>G	20.37:g.34091857A>G	ENSP00000380661:p.Glu1887Gly		33555271	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763305	0.69763	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.57273	2.47;2.41;0.41	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000007	T	0.70465	0.3227	M	0.73962	2.25	0.41958	D	0.990693	D	0.67145	0.996	D	0.75020	0.985	T	0.73452	-0.3978	10	0.51188	T	0.08	.	13.5691	0.61836	1.0:0.0:0.0:0.0	.	1887	Q9BV73	CP250_HUMAN	G	1887;1831;375	ENSP00000380661:E1887G;ENSP00000341541:E1831G;ENSP00000395992:E375G	ENSP00000341541:E1831G	E	+	2	0	CEP250	33555271	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.595000	0.54016	2.081000	0.62600	0.533000	0.62120	GAG		0.622	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		G	34091857	A	G	34091857	3	3	220	1	0	0	0	0	1	0	0	0	3252	304	11	4	5766	4	CEP250	20	34091857	Missense_Mutation	SNP	A	TCGA-24-1424-01A-01W-0549-09		34091857	28933663	44	12611											
PTPRT	11122	genome.wustl.edu	37	20	40770604	40770604	+	Silent	SNP	G	G	A			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chr20:40770604G>A	ENST00000373187.1	-	18	2720	c.2721C>T	c.(2719-2721)gcC>gcT	p.A907A	PTPRT_ENST00000373201.1_Silent_p.A897A|PTPRT_ENST00000373190.1_Silent_p.A906A|PTPRT_ENST00000373198.4_Silent_p.A926A|PTPRT_ENST00000373184.1_Silent_p.A897A|PTPRT_ENST00000373193.3_Silent_p.A910A|PTPRT_ENST00000356100.2_Silent_p.A916A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	907	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.A929A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATCCTCCTTGGCTGTGTCCC	0.507																																																1	Substitution - coding silent(1)	ovary(1)	20											227	225	225					20																	40770604		1960	4153	6113	40204018	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2721C>T	20.37:g.40770604G>A			40204018	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	40770604	G	A	40770604	2	1	220	1	0	0	0	0	0	0	0	1	12815	1335	47	2		2	PTPRT	20	40770604	Silent	SNP	G	TCGA-24-1424-01A-01W-0549-09	6678747	40770604	22254916	45	12612											
COL4A5	1287	genome.wustl.edu	37	X	107683417	107683417	+	Missense_Mutation	SNP	G	G	A	rs281874760		TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chrX:107683417G>A	ENST00000361603.2	+	1	306	c.62G>A	c.(61-63)gGg>gAg	p.G21E	COL4A6_ENST00000461897.1_5'Flank|COL4A5_ENST00000477429.1_3'UTR|COL4A6_ENST00000545689.1_5'Flank|COL4A6_ENST00000334504.7_5'Flank|COL4A6_ENST00000372216.4_5'Flank|COL4A6_ENST00000394872.2_5'Flank|COL4A5_ENST00000328300.6_Missense_Mutation_p.G21E|COL4A6_ENST00000538570.1_5'Flank	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	21					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G21E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGTCTTTGGGGGCAGCCTGCA	0.612									Alport syndrome with Diffuse Leiomyomatosis																																							1	Substitution - Missense(1)	ovary(1)	X											48	39	42					X																	107683417		2203	4300	6503	107570073	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.62G>A	X.37:g.107683417G>A	ENSP00000354505:p.Gly21Glu		107570073	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744654	0.49151	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.90504	-2.68;-2.51	4.68	4.68	0.58851	.	0.654740	0.14911	N	0.291232	D	0.83078	0.5176	N	0.08118	0	0.28952	N	0.890357	P;P	0.51240	0.943;0.943	P;P	0.45998	0.5;0.5	T	0.77892	-0.2418	10	0.38643	T	0.18	.	12.5058	0.55979	0.0:0.0:1.0:0.0	.	21;21	E7EVY4;P29400	.;CO4A5_HUMAN	E	21	ENSP00000331902:G21E;ENSP00000354505:G21E	ENSP00000331902:G21E	G	+	2	0	COL4A5	107570073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.675000	0.46875	2.246000	0.74042	0.600000	0.82982	GGG		0.612	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			A	107683417	G	A	107683417	3	1	220	1	0	0	0	0	1	0	0	0	3694	1232	43	2	64	2	COL4A5	23	107683417	Missense_Mutation	SNP	G	TCGA-24-1424-01A-01W-0549-09		107683417	47587143	46	12613											
MAGEC2	51438	genome.wustl.edu	37	X	141291064	141291064	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1424-01A-01W-0549-09	TCGA-24-1424-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	2849f3e8-85d8-4d42-953b-3190b0ca98fc	f45cf26e-8090-4aa2-94e7-9f6dbf1dcd41	g.chrX:141291064A>G	ENST00000247452.3	-	3	1057	c.710T>C	c.(709-711)aTc>aCc	p.I237T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	237	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.I237T(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTATGAAGATCACACTCAG	0.512										HNSCC(46;0.14)																																						1	Substitution - Missense(1)	ovary(1)	X											121	113	116					X																	141291064		2203	4300	6503	141118730	SO:0001583	missense	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.710T>C	X.37:g.141291064A>G	ENSP00000354660:p.Ile237Thr		141118730	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	10.48	1.362120	0.24684	.	.	ENSG00000046774	ENST00000247452	T	0.12672	2.66	0.988	0.988	0.19796	.	0.065818	0.64402	U	0.000019	T	0.41511	0.1162	H	0.96015	3.755	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.22277	-1.0221	10	0.87932	D	0	.	3.916	0.09224	1.0:0.0:0.0:0.0	.	237	Q9UBF1	MAGC2_HUMAN	T	237	ENSP00000354660:I237T	ENSP00000354660:I237T	I	-	2	0	MAGEC2	141118730	0.883000	0.30277	0.022000	0.16811	0.051000	0.14879	2.181000	0.42547	0.635000	0.30488	0.235000	0.17854	ATC		0.512	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		G	141291064	A	G	141291064	3	3	220	1	0	0	0	0	1	0	0	0	9181	333	12	4	415	4	MAGEC2	23	141291064	Missense_Mutation	SNP	A	TCGA-24-1424-01A-01W-0549-09	33607647	141291064	13979496	47	12614											
TCHHL1	126637	genome.wustl.edu	37	1	152059508	152059508	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr1:152059508T>A	ENST00000368806.1	-	3	714	c.650A>T	c.(649-651)aAg>aTg	p.K217M		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	217							calcium ion binding (GO:0005509)	p.K217M(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTGCTGGTCTTTTTTGATCC	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											137	122	127					1																	152059508		2203	4300	6503	150326132	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.650A>T	1.37:g.152059508T>A	ENSP00000357796:p.Lys217Met		150326132	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	12.69	2.014394	0.35511	.	.	ENSG00000182898	ENST00000368806	T	0.25912	1.77	5.1	5.1	0.69264	.	0.666605	0.12399	N	0.472275	T	0.05914	0.0154	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.32745	-0.9895	10	0.48119	T	0.1	0.1954	11.272	0.49144	0.0:0.0:0.0:1.0	.	217	Q5QJ38	TCHL1_HUMAN	M	217	ENSP00000357796:K217M	ENSP00000357796:K217M	K	-	2	0	TCHHL1	150326132	0.173000	0.23056	0.021000	0.16686	0.004000	0.04260	2.330000	0.43885	1.910000	0.55303	0.455000	0.32223	AAG		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		A	152059508	T	A	152059508	3	1	221	1	0	0	0	0	1	0	0	0	15701	1609	56	5	2068	5	TCHHL1	1	152059508	Missense_Mutation	SNP	T	TCGA-24-1425-01A-02W-0553-09		152059508	97191113	1	12615											
PYHIN1	149628	genome.wustl.edu	37	1	158908895	158908895	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr1:158908895A>G	ENST00000368140.1	+	4	682	c.437A>G	c.(436-438)gAg>gGg	p.E146G	PYHIN1_ENST00000368135.4_Missense_Mutation_p.E146G|PYHIN1_ENST00000392254.2_Missense_Mutation_p.E146G|PYHIN1_ENST00000392252.3_Missense_Mutation_p.E137G|PYHIN1_ENST00000368138.3_Missense_Mutation_p.E137G	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	146					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.E146G(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TCTGAAGAAGAGACTGGAACC	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											67	65	66					1																	158908895		2203	4300	6503	157175519	SO:0001583	missense	149628			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.437A>G	1.37:g.158908895A>G	ENSP00000357122:p.Glu146Gly		157175519	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.338101	0.24253	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.35421	1.31;3.39;3.4;3.4;3.42;1.68	2.27	-2.21	0.06973	.	.	.	.	.	T	0.14960	0.0361	L	0.43152	1.355	0.09310	N	1	B;B;B;B;P	0.40834	0.095;0.095;0.095;0.057;0.73	B;B;B;B;P	0.44394	0.049;0.077;0.049;0.022;0.448	T	0.19418	-1.0306	9	0.35671	T	0.21	.	8.2877	0.31939	0.3589:0.6411:0.0:0.0	.	137;146;137;146;146	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	G	146;146;137;146;137;146	ENSP00000407616:E146G;ENSP00000357122:E146G;ENSP00000357120:E137G;ENSP00000376083:E146G;ENSP00000376082:E137G;ENSP00000357117:E146G	ENSP00000357117:E146G	E	+	2	0	PYHIN1	157175519	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.132000	0.10467	-0.520000	0.06435	-0.472000	0.04984	GAG		0.443	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		G	158908895	A	G	158908895	3	3	221	1	0	0	0	0	1	0	0	0	12868	304	11	4	447	4	PYHIN1	1	158908895	Missense_Mutation	SNP	A	TCGA-24-1425-01A-02W-0553-09	6849387	158908895	90341726	2	12616											
USH2A	7399	genome.wustl.edu	37	1	215901553	215901553	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr1:215901553T>C	ENST00000307340.3	-	61	12271	c.11885A>G	c.(11884-11886)gAa>gGa	p.E3962G	USH2A_ENST00000366943.2_Missense_Mutation_p.E3962G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3962	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E3962G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGTGGAGCTTCCAGAGTTTG	0.493										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											89	88	88					1																	215901553		2203	4300	6503	213968176	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11885A>G	1.37:g.215901553T>C	ENSP00000305941:p.Glu3962Gly		213968176	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.938556	0.92526	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55588	0.51;0.51	5.53	5.53	0.82687	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.149852	0.30068	N	0.010497	T	0.68504	0.3008	M	0.87180	2.865	0.50813	D	0.999891	P	0.52577	0.954	P	0.50352	0.638	T	0.76258	-0.3025	10	0.87932	D	0	.	15.6565	0.77140	0.0:0.0:0.0:1.0	.	3962	O75445	USH2A_HUMAN	G	3962	ENSP00000305941:E3962G;ENSP00000355910:E3962G	ENSP00000305941:E3962G	E	-	2	0	USH2A	213968176	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.944000	0.70219	2.085000	0.62840	0.482000	0.46254	GAA		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215901553	T	C	215901553	3	2	221	1	0	0	0	0	1	0	0	0	17036	1783	62	4	3771	4	USH2A	1	215901553	Missense_Mutation	SNP	T	TCGA-24-1425-01A-02W-0553-09	56992658	215901553	33349068	3	12617											
NPHP1	4867	genome.wustl.edu	37	2	110927403	110927403	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr2:110927403C>G	ENST00000393272.3	-	5	599	c.502G>C	c.(502-504)Gtt>Ctt	p.V168L	NPHP1_ENST00000355301.4_Missense_Mutation_p.V106L|NPHP1_ENST00000417665.1_Missense_Mutation_p.V168L|NPHP1_ENST00000316534.4_Missense_Mutation_p.V168L|NPHP1_ENST00000445609.2_Missense_Mutation_p.V168L	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	168	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.V168L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGATCTCCAACTTGCTGAGCA	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											153	140	144					2																	110927403		2203	4300	6503	110284692	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.502G>C	2.37:g.110927403C>G	ENSP00000376953:p.Val168Leu		110284692	O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026932	0.19512	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.34	3.49	0.39957	Src homology-3 domain (4);	1.321340	0.05133	N	0.492981	T	0.33381	0.0861	N	0.14661	0.345	0.21802	N	0.999534	B;B;B;B;B;B	0.23650	0.035;0.017;0.007;0.03;0.028;0.089	B;B;B;B;B;B	0.25140	0.058;0.05;0.009;0.05;0.034;0.047	T	0.24584	-1.0156	10	0.30854	T	0.27	-1.3815	8.2112	0.31483	0.0:0.7435:0.0:0.2565	.	168;168;106;168;168;168	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	L	168;168;168;106;168	ENSP00000313169:V168L;ENSP00000389879:V168L;ENSP00000376953:V168L;ENSP00000347452:V106L;ENSP00000402176:V168L	ENSP00000313169:V168L	V	-	1	0	NPHP1	110284692	0.836000	0.29430	0.513000	0.27749	0.636000	0.38137	1.727000	0.38095	1.220000	0.43490	0.484000	0.47621	GTT		0.413	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		G	110927403	C	G	110927403	3	3	221	1	0	0	0	0	1	0	0	0	10579	565	20	3	1763	3	NPHP1	2	110927403	Missense_Mutation	SNP	C	TCGA-24-1425-01A-02W-0553-09		110927403	132271970	4	12618											
COL6A3	1293	genome.wustl.edu	37	2	238280958	238280958	+	Silent	SNP	C	C	A			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr2:238280958C>A	ENST00000295550.4	-	9	4154	c.3702G>T	c.(3700-3702)gtG>gtT	p.V1234V	COL6A3_ENST00000472056.1_Silent_p.V627V|COL6A3_ENST00000346358.4_Silent_p.V1034V|COL6A3_ENST00000409809.1_Silent_p.V1028V|COL6A3_ENST00000392003.2_Silent_p.V827V|COL6A3_ENST00000392004.3_Silent_p.V1028V|COL6A3_ENST00000347401.3_Silent_p.V1033V|COL6A3_ENST00000353578.4_Silent_p.V1028V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1234	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1234V(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGAAAGACCACGTCCCTCT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	2											82	76	78					2																	238280958		2203	4300	6503	237945697	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3702G>T	2.37:g.238280958C>A			237945697	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238280958	C	A	238280958	2	1	221	1	0	0	0	0	0	0	0	1	3701	581	21	3		3	COL6A3	2	238280958	Silent	SNP	C	TCGA-24-1425-01A-02W-0553-09	127353555	238280958	4918415	5	12619											
FLNB	2317	genome.wustl.edu	37	3	58109125	58109125	+	Silent	SNP	G	G	A			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr3:58109125G>A	ENST00000295956.4	+	21	3597	c.3432G>A	c.(3430-3432)gaG>gaA	p.E1144E	FLNB_ENST00000490882.1_Silent_p.E1144E|FLNB_ENST00000493452.1_Silent_p.E975E|FLNB_ENST00000348383.5_Silent_p.E1144E|FLNB_ENST00000358537.3_Silent_p.E1144E|FLNB_ENST00000429972.2_Silent_p.E1144E|FLNB_ENST00000357272.4_Silent_p.E1144E|FLNB_ENST00000419752.2_Silent_p.E975E	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1144	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E1144E(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGGTCTCGAGCACGGGAAGG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	3											76	86	83					3																	58109125		2203	4300	6503	58084165	SO:0001819	synonymous_variant	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3432G>A	3.37:g.58109125G>A			58084165	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	CCDS2885.1																																																																																				0.592	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		A	58109125	G	A	58109125	2	1	221	1	0	0	0	0	0	0	0	1	5934	962	34	2		2	FLNB	3	58109125	Silent	SNP	G	TCGA-24-1425-01A-02W-0553-09		58109125	139913305	6	12620											
KCNMB2	10242	genome.wustl.edu	37	3	178560615	178560615	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr3:178560615C>G	ENST00000432997.1	+	5	950	c.598C>G	c.(598-600)Ctc>Gtc	p.L200V	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.L200V|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.L200V|KCNMB2_ENST00000358316.3_Missense_Mutation_p.L200V|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	214					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.L200V(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	GTTCCATTCACTCTTCTGGCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	3											91	87	88					3																	178560615		2203	4300	6503	180043309	SO:0001583	missense	10242			AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"Potassium channels"	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.598C>G	3.37:g.178560615C>G	ENSP00000407592:p.Leu200Val		180043309	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128214	0.56721	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	L	0.50333	1.59	0.58432	D	0.999995	D	0.76494	0.999	D	0.85130	0.997	T	0.04400	-1.0954	10	0.54805	T	0.06	-15.6833	11.7155	0.51650	0.0:0.8656:0.0:0.1344	.	200	Q9Y691	KCMB2_HUMAN	V	200;200;200;200;181	ENSP00000408252:L200V;ENSP00000397483:L200V;ENSP00000407592:L200V;ENSP00000351068:L200V	ENSP00000351068:L200V	L	+	1	0	KCNMB2	180043309	0.992000	0.36948	0.997000	0.53966	0.981000	0.71138	2.928000	0.48908	1.627000	0.50400	0.655000	0.94253	CTC		0.468	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		G	178560615	C	G	178560615	3	3	221	1	0	0	0	0	1	0	0	0	8075	565	20	3	612	3	KCNMB2	3	178560615	Missense_Mutation	SNP	C	TCGA-24-1425-01A-02W-0553-09	120451490	178560615	19461815	7	12621											
ERBB2IP	55914	genome.wustl.edu	37	5	65350083	65350083	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr5:65350083C>G	ENST00000284037.5	+	21	3326	c.2937C>G	c.(2935-2937)atC>atG	p.I979M	ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I975M|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I979M|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I979M|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I979M|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I979M|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I979M|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I979M|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I979M	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	979					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.I979M(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGTATAATATCCAATACAGTA	0.433																																																1	Substitution - Missense(1)	ovary(1)	5											63	69	67					5																	65350083		2202	4300	6502	65385839	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2937C>G	5.37:g.65350083C>G	ENSP00000284037:p.Ile979Met		65385839	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892408	0.33442	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.39406	1.27;1.27;1.27;1.47;1.08;1.34;1.27;1.31;1.08	5.76	-0.238	0.13055	.	0.147163	0.64402	D	0.000014	T	0.33000	0.0848	L	0.29908	0.895	0.43793	D	0.996336	P;P;B;B;P;P;P	0.46987	0.677;0.822;0.399;0.351;0.747;0.888;0.483	B;P;B;B;P;P;B	0.53360	0.426;0.534;0.418;0.125;0.499;0.724;0.246	T	0.18808	-1.0325	10	0.27082	T	0.32	.	2.6661	0.05051	0.1118:0.3751:0.1092:0.4039	.	979;979;979;975;979;979;979	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	M	979;979;979;979;979;979;975;979;979	ENSP00000284037:I979M;ENSP00000370330:I979M;ENSP00000370326:I979M;ENSP00000370323:I979M;ENSP00000370322:I979M;ENSP00000370325:I979M;ENSP00000422766:I975M;ENSP00000426632:I979M;ENSP00000422015:I979M	ENSP00000284037:I979M	I	+	3	3	ERBB2IP	65385839	0.999000	0.42202	0.944000	0.38274	0.994000	0.84299	0.665000	0.25083	-0.369000	0.08028	0.655000	0.94253	ATC		0.433	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		G	65350083	C	G	65350083	3	3	221	1	0	0	0	0	1	0	0	0	5207	845	30	3	3011	3	ERBB2IP	5	65350083	Missense_Mutation	SNP	C	TCGA-24-1425-01A-02W-0553-09		65350083	115565177	8	12622											
PCDHA3	56145	genome.wustl.edu	37	5	140182396	140182396	+	Silent	SNP	C	C	T	rs539786276		TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr5:140182396C>T	ENST00000522353.2	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.R538R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R538R(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTGCGCGCGATGCGGGCG	0.672																																																1	Substitution - coding silent(1)	ovary(1)	5											85	86	85					5																	140182396		2203	4298	6501	140162580	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1614C>T	5.37:g.140182396C>T			140162580	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																				0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		T	140182396	C	T	140182396	2	4	221	1	0	0	0	0	0	0	0	1	11525	755	27	1		1	PCDHA3	5	140182396	Silent	SNP	C	TCGA-24-1425-01A-02W-0553-09	74832313	140182396	40732864	9	12623											
PLEKHG1	57480	genome.wustl.edu	37	6	151055101	151055101	+	Nonsense_Mutation	SNP	C	C	G			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr6:151055101C>G	ENST00000358517.2	+	2	495	c.284C>G	c.(283-285)tCa>tGa	p.S95*	PLEKHG1_ENST00000367328.1_Nonsense_Mutation_p.S95*			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	95							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S95*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGAGTGGACTCAAACGGGGCA	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	6											46	51	49					6																	151055101		2203	4300	6503	151096794	SO:0001587	stop_gained	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.284C>G	6.37:g.151055101C>G	ENSP00000351318:p.Ser95*		151096794	Q5T1F2	Nonsense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073781	0.94000	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	5.27	4.4	0.53042	.	0.656672	0.16283	N	0.221268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3003	0.49302	0.0:0.8527:0.0:0.1473	.	.	.	.	X	95	.	.	S	+	2	0	PLEKHG1	151096794	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	1.632000	0.37102	1.379000	0.46325	-0.136000	0.14681	TCA		0.582	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			G	151055101	C	G	151055101	4	3	221	1	0	0	0	0	0	1	0	0	12068	838	29	3	286	3	PLEKHG1	6	151055101	Nonsense_Mutation	SNP	C	TCGA-24-1425-01A-02W-0553-09		151055101	20059966	10	12624											
CHN2	1124	genome.wustl.edu	37	7	29440168	29440168	+	Silent	SNP	C	C	T			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr7:29440168C>T	ENST00000222792.6	+	6	830	c.300C>T	c.(298-300)aaC>aaT	p.N100N	CHN2_ENST00000495789.2_Silent_p.N113N|CHN2_ENST00000546235.1_Silent_p.N85N|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Silent_p.N175N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	100	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.N100N(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GGTTTGGAAACCAGACCTTAA	0.433																																					Ovarian(1;44 48 13232 18918 31480)											1	Substitution - coding silent(1)	ovary(1)	7											88	84	85					7																	29440168		2203	4300	6503	29406693	SO:0001819	synonymous_variant	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.300C>T	7.37:g.29440168C>T			29406693	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	CCDS5420.1																																																																																				0.433	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		T	29440168	C	T	29440168	2	4	221	1	0	0	0	0	0	0	0	1	3363	506	18	2		2	CHN2	7	29440168	Silent	SNP	C	TCGA-24-1425-01A-02W-0553-09		29440168	129698495	11	12625											
AUTS2	26053	genome.wustl.edu	37	7	70228152	70228152	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr7:70228152G>A	ENST00000342771.4	+	7	1360	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	AUTS2_ENST00000406775.2_Missense_Mutation_p.E347K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	347								p.E347K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGCCCTCCTGAGGCCCAGCT	0.677																																																1	Substitution - Missense(1)	ovary(1)	7											33	38	36					7																	70228152		2203	4300	6503	69866088	SO:0001583	missense	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1039G>A	7.37:g.70228152G>A	ENSP00000344087:p.Glu347Lys		69866088	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587221	0.66105	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.30714	1.52;1.53	5.51	4.62	0.57501	.	0.371292	0.31210	N	0.008054	T	0.19805	0.0476	N	0.22421	0.69	0.80722	D	1	B;B	0.33807	0.426;0.426	B;B	0.32090	0.14;0.14	T	0.04930	-1.0917	9	.	.	.	-22.8021	12.6812	0.56922	0.0811:0.0:0.9189:0.0	.	347;347	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	K	347	ENSP00000385263:E347K;ENSP00000344087:E347K	.	E	+	1	0	AUTS2	69866088	0.999000	0.42202	0.985000	0.45067	0.555000	0.35460	3.289000	0.51747	2.584000	0.87258	0.563000	0.77884	GAG		0.677	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			A	70228152	G	A	70228152	3	1	221	1	0	0	0	0	1	0	0	0	1225	1291	45	2	1210	2	AUTS2	7	70228152	Missense_Mutation	SNP	G	TCGA-24-1425-01A-02W-0553-09	40787984	70228152	88910511	12	12626											
CASD1	64921	genome.wustl.edu	37	7	94167156	94167156	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr7:94167156A>G	ENST00000297273.4	+	9	1503	c.1216A>G	c.(1216-1218)Att>Gtt	p.I406V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	406						integral component of membrane (GO:0016021)		p.I406V(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTTATTCCAATTATCTACAT	0.303																																																1	Substitution - Missense(1)	ovary(1)	7											52	59	56					7																	94167156		2201	4296	6497	94005092	SO:0001583	missense	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1216A>G	7.37:g.94167156A>G	ENSP00000297273:p.Ile406Val		94005092	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	3.496	-0.102803	0.06967	.	.	ENSG00000127995	ENST00000297273	T	0.42900	0.96	5.51	5.51	0.81932	.	0.053282	0.85682	D	0.000000	T	0.27063	0.0663	N	0.24115	0.695	0.47123	D	0.999326	B;B	0.26775	0.159;0.159	B;B	0.23852	0.049;0.049	T	0.09596	-1.0667	10	0.02654	T	1	.	15.9173	0.79531	1.0:0.0:0.0:0.0	.	406;406	Q8WZ77;Q96PB1	.;CASD1_HUMAN	V	406	ENSP00000297273:I406V	ENSP00000297273:I406V	I	+	1	0	CASD1	94005092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.147000	0.64851	2.226000	0.72624	0.477000	0.44152	ATT		0.303	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		G	94167156	A	G	94167156	3	3	221	1	0	0	0	0	1	0	0	0	2664	101	4	4	1250	4	CASD1	7	94167156	Missense_Mutation	SNP	A	TCGA-24-1425-01A-02W-0553-09	23939004	94167156	64971507	13	12627											
ASNS	440	genome.wustl.edu	37	7	97498311	97498311	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr7:97498311A>G	ENST00000394309.3	-	3	629	c.158T>C	c.(157-159)gTt>gCt	p.V53A	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.V53A|ASNS_ENST00000175506.4_Missense_Mutation_p.V53A|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.V32A|ASNS_ENST00000422745.1_Missense_Mutation_p.V32A	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	53	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.|Glutamine binding. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.V53A(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAGCGGGTCAACTACCGCCAA	0.448																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)											1	Substitution - Missense(1)	ovary(1)	7											79	68	72					7																	97498311		2203	4300	6503	97336247	SO:0001583	missense	440			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.158T>C	7.37:g.97498311A>G	ENSP00000377846:p.Val53Ala		97336247	A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064198	0.55432	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.72;0.72;0.72	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.193450	0.43747	N	0.000539	T	0.70500	0.3231	H	0.95917	3.74	0.58432	D	0.999998	P	0.50066	0.931	P	0.54210	0.745	T	0.79374	-0.1830	10	0.87932	D	0	-24.2744	10.7845	0.46397	1.0:0.0:0.0:0.0	.	53	P08243	ASNS_HUMAN	A	53;53;53;32;32;53;53;53;32	ENSP00000175506:V53A;ENSP00000377846:V53A;ENSP00000377845:V53A;ENSP00000414901:V32A;ENSP00000406994:V32A;ENSP00000400422:V53A	ENSP00000175506:V53A	V	-	2	0	ASNS	97336247	1.000000	0.71417	0.920000	0.36463	0.090000	0.18270	8.404000	0.90210	1.723000	0.51488	0.454000	0.30748	GTT		0.448	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		G	97498311	A	G	97498311	3	3	221	1	0	0	0	0	1	0	0	0	1048	43	2	4	1571	4	ASNS	7	97498311	Missense_Mutation	SNP	A	TCGA-24-1425-01A-02W-0553-09	3331155	97498311	61640352	14	12628											
SLCO5A1	81796	genome.wustl.edu	37	8	70585479	70585479	+	Silent	SNP	A	A	G			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr8:70585479A>G	ENST00000260126.4	-	10	2878	c.2172T>C	c.(2170-2172)ggT>ggC	p.G724G	SLCO5A1_ENST00000530307.1_Silent_p.G669G|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	724						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G724G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCAGCAAGAACCCTGCACAC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	8											164	164	164					8																	70585479		2203	4300	6503	70748033	SO:0001819	synonymous_variant	81796			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2172T>C	8.37:g.70585479A>G			70748033	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	CCDS6205.1																																																																																				0.473	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		G	70585479	A	G	70585479	2	3	221	1	0	0	0	0	0	0	0	1	14734	30	2	4		4	SLCO5A1	8	70585479	Silent	SNP	A	TCGA-24-1425-01A-02W-0553-09		70585479	75778543	15	12629											
RNF19A	25897	genome.wustl.edu	37	8	101299871	101299871	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr8:101299871C>T	ENST00000519449.1	-	3	848	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	RNF19A_ENST00000341084.2_Missense_Mutation_p.E178K	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	178					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E178K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCAGTACATTCTGGGCAACTA	0.358																																																1	Substitution - Missense(1)	ovary(1)	8											117	122	120					8																	101299871		2203	4300	6503	101369047	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.532G>A	8.37:g.101299871C>T	ENSP00000428968:p.Glu178Lys		101369047	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263183	0.95399	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.85171	-1.95;-1.95	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	M	0.90483	3.12	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.93974	0.7252	10	0.51188	T	0.08	.	19.1651	0.93553	0.0:1.0:0.0:0.0	.	178	Q9NV58	RN19A_HUMAN	K	178	ENSP00000428968:E178K;ENSP00000342667:E178K	ENSP00000342667:E178K	E	-	1	0	RNF19A	101369047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.606000	0.88127	0.650000	0.86243	GAA		0.358	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		T	101299871	C	T	101299871	3	4	221	1	0	0	0	0	1	0	0	0	13473	922	32	2	2020	2	RNF19A	8	101299871	Missense_Mutation	SNP	C	TCGA-24-1425-01A-02W-0553-09	30714392	101299871	45064151	16	12630											
ABRA	137735	genome.wustl.edu	37	8	107773533	107773533	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr8:107773533G>T	ENST00000311955.3	-	2	932	c.878C>A	c.(877-879)aCc>aAc	p.T293N		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.T293N(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AGCAGTTTTGGTTCCTTCTTT	0.512																																																1	Substitution - Missense(1)	ovary(1)	8											130	104	113					8																	107773533		2203	4300	6503	107842709	SO:0001583	missense	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.878C>A	8.37:g.107773533G>T	ENSP00000311436:p.Thr293Asn		107842709		Missense_Mutation	SNP	ENST00000311955.3	37	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276921	0.59758	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.06	3.12	0.35913	.	0.093651	0.64402	D	0.000001	T	0.70281	0.3206	M	0.62723	1.935	0.51233	D	0.999911	P	0.51653	0.947	P	0.51657	0.676	T	0.74592	-0.3614	9	0.87932	D	0	-18.5985	17.7654	0.88476	0.0:0.4137:0.5863:0.0	.	293	Q8N0Z2	ABRA_HUMAN	N	293	.	ENSP00000311436:T293N	T	-	2	0	ABRA	107842709	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.014000	0.49590	0.329000	0.23460	0.655000	0.94253	ACC		0.512	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		T	107773533	G	T	107773533	3	4	221	1	0	0	0	0	1	0	0	0	100	1261	44	3	271	3	ABRA	8	107773533	Missense_Mutation	SNP	G	TCGA-24-1425-01A-02W-0553-09	6473662	107773533	38590489	17	12631											
CSMD3	114788	genome.wustl.edu	37	8	113585841	113585841	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr8:113585841T>G	ENST00000297405.5	-	24	4175	c.3931A>C	c.(3931-3933)Act>Cct	p.T1311P	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1271P|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1311P|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1207P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1311	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1311P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGCACCAGTAAAAGCACCT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											120	120	120					8																	113585841		2203	4300	6503	113655017	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3931A>C	8.37:g.113585841T>G	ENSP00000297405:p.Thr1311Pro		113655017	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323870	0.81580	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.85	4.85	0.62838	CUB (5);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	M	0.93507	3.425	0.43076	D	0.994725	D;D;D	0.76494	0.996;0.996;0.999	D;D;D	0.68621	0.931;0.959;0.953	T	0.74481	-0.3651	10	0.54805	T	0.06	.	14.5953	0.68400	0.0:0.0:0.0:1.0	.	1207;1311;1271	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	1271;1311;651;1207;1311	ENSP00000345799:T1271P;ENSP00000297405:T1311P;ENSP00000341558:T651P;ENSP00000412263:T1207P;ENSP00000343124:T1311P	ENSP00000297405:T1311P	T	-	1	0	CSMD3	113655017	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.944000	0.70219	2.019000	0.59389	0.482000	0.46254	ACT		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113585841	T	G	113585841	3	3	221	1	0	0	0	0	1	0	0	0	3946	1638	57	5	7384	5	CSMD3	8	113585841	Missense_Mutation	SNP	T	TCGA-24-1425-01A-02W-0553-09	5812308	113585841	32778181	18	12632											
ZCCHC7	84186	genome.wustl.edu	37	9	37304239	37304239	+	Missense_Mutation	SNP	G	G	C	rs560856435		TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr9:37304239G>C	ENST00000336755.5	+	4	815	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P	ZCCHC7_ENST00000534928.1_5'UTR|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	237						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A237P(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GTACTATTCAGCCAACAAAAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	9											98	95	96					9																	37304239		2203	4300	6503	37294239	SO:0001583	missense	84186			AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.709G>C	9.37:g.37304239G>C	ENSP00000337839:p.Ala237Pro		37294239	B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578065	0.28180	.	.	ENSG00000147905	ENST00000336755	T	0.32515	1.45	5.57	3.72	0.42706	Zinc finger, CCHC retroviral-type (1);	0.632453	0.15401	N	0.264304	T	0.28366	0.0701	L	0.27053	0.805	0.36205	D	0.850997	D	0.62365	0.991	P	0.52109	0.69	T	0.17137	-1.0379	10	0.33141	T	0.24	-11.5768	7.8777	0.29603	0.1525:0.1331:0.7144:0.0	.	237	Q8N3Z6	ZCHC7_HUMAN	P	237	ENSP00000337839:A237P	ENSP00000337839:A237P	A	+	1	0	ZCCHC7	37294239	0.886000	0.30341	0.914000	0.36105	0.313000	0.28021	1.111000	0.31159	1.375000	0.46248	0.650000	0.86243	GCC		0.378	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		C	37304239	G	C	37304239	3	2	221	1	0	0	0	0	1	0	0	0	17593	971	34	3	719	3	ZCCHC7	9	37304239	Missense_Mutation	SNP	G	TCGA-24-1425-01A-02W-0553-09		37304239	103909192	19	12633											
CRTAC1	55118	genome.wustl.edu	37	10	99644060	99644060	+	Missense_Mutation	SNP	A	A	C	rs368269510		TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr10:99644060A>C	ENST00000370597.3	-	12	1890	c.1535T>G	c.(1534-1536)aTg>aGg	p.M512R	CRTAC1_ENST00000298819.4_Missense_Mutation_p.M512R|CRTAC1_ENST00000468549.1_5'UTR|CRTAC1_ENST00000370591.2_Missense_Mutation_p.M512R	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	512						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.M512R(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCGGCTCACCATCTTGCCATC	0.617																																																1	Substitution - Missense(1)	ovary(1)	10											75	50	58					10																	99644060		2195	4277	6472	99634050	SO:0001583	missense	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1535T>G	10.37:g.99644060A>C	ENSP00000359629:p.Met512Arg		99634050	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	A	8.444	0.851515	0.17034	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.72725	1.56;-0.68;1.57;0.17;0.16	5.54	5.54	0.83059	ASPIC/UnbV (1);	0.362247	0.29707	N	0.011418	T	0.43166	0.1235	N	0.01438	-0.865	0.36422	D	0.864358	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.49725	-0.8909	10	0.12766	T	0.61	-19.7847	15.3462	0.74340	1.0:0.0:0.0:0.0	.	512;512;408	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	R	408;512;512;504;512	ENSP00000408445:M408R;ENSP00000359629:M512R;ENSP00000298819:M512R;ENSP00000310810:M504R;ENSP00000359623:M512R	ENSP00000298819:M512R	M	-	2	0	CRTAC1	99634050	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.911000	0.75746	2.122000	0.65172	0.260000	0.18958	ATG		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		C	99644060	A	C	99644060	3	2	221	1	0	0	0	0	1	0	0	0	3896	217	8	5	466	5	CRTAC1	10	99644060	Missense_Mutation	SNP	A	TCGA-24-1425-01A-02W-0553-09		99644060	35890687	20	12634											
AFAP1L2	84632	genome.wustl.edu	37	10	116060281	116060281	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr10:116060281C>T	ENST00000304129.4	-	14	1740	c.1711G>A	c.(1711-1713)Gcc>Acc	p.A571T	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A624T|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.A571T			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	571					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)	p.A571T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GCCGGGAGGGCCTCAGTTGCA	0.627																																																1	Substitution - Missense(1)	ovary(1)	10											69	68	68					10																	116060281		2203	4300	6503	116050271	SO:0001583	missense	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1711G>A	10.37:g.116060281C>T	ENSP00000303042:p.Ala571Thr		116050271	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	9.416	1.081740	0.20309	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.13901	2.55;2.55;2.55	5.62	1.18	0.20946	.	1.332960	0.04602	N	0.398675	T	0.07143	0.0181	N	0.13043	0.29	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.003;0.0;0.002;0.002;0.0;0.001;0.0	B;B;B;B;B;B;B	0.10450	0.003;0.005;0.001;0.003;0.002;0.001;0.0	T	0.36841	-0.9731	10	0.11182	T	0.66	-6.859	2.6632	0.05032	0.209:0.4014:0.0:0.3895	.	624;137;625;93;599;571;571	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	T	571;571;598;624	ENSP00000358276:A571T;ENSP00000303042:A571T;ENSP00000444511:A624T	ENSP00000303042:A571T	A	-	1	0	AFAP1L2	116050271	0.001000	0.12720	0.006000	0.13384	0.157000	0.22087	-0.177000	0.09796	0.704000	0.31869	0.655000	0.94253	GCC		0.627	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		T	116060281	C	T	116060281	3	4	221	1	0	0	0	0	1	0	0	0	355	739	26	2	769	2	AFAP1L2	10	116060281	Missense_Mutation	SNP	C	TCGA-24-1425-01A-02W-0553-09	16416221	116060281	19474466	21	12635											
SDHAF2	54949	genome.wustl.edu	37	11	61205565	61205565	+	Missense_Mutation	SNP	A	A	G	rs151040226		TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr11:61205565A>G	ENST00000301761.2	+	3	424	c.350A>G	c.(349-351)gAt>gGt	p.D117G	SDHAF2_ENST00000537782.1_Missense_Mutation_p.D117G|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.D105G|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000534878.1_Missense_Mutation_p.D117G	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2									p.D117G(1)		large_intestine(3)|lung(4)|ovary(2)	9						AATGACTGGGATATTTACTAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	11						A	GLY/ASP	0,4404		0,0,2202	143	134	137		350	5.9	1	11	dbSNP_134	137	1,8597	1.2+/-3.3	0,1,4298	no	missense	SDHAF2	NM_017841.2	94	0,1,6500	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	117/167	61205565	1,13001	2202	4299	6501	60962141	SO:0001583	missense	54949			AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"Mitochondrial respiratory chain complex assembly factors"	26034	protein-coding gene	gene with protein product		613019	"paraganglioma or familial glomus tumors 2", "chromosome 11 open reading frame 79"	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.350A>G	11.37:g.61205565A>G	ENSP00000301761:p.Asp117Gly		60962141		Missense_Mutation	SNP	ENST00000301761.2	37	CCDS8007.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027136	0.75390	0.0	1.16E-4	ENSG00000256591;ENSG00000167985	ENST00000541135;ENST00000301761	D;D	0.81996	-1.56;-1.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.89511	0.6736	H	0.97365	3.99	0.80722	D	1	B	0.30281	0.275	B	0.29785	0.107	D	0.89917	0.4056	10	0.66056	D	0.02	-16.4925	15.3309	0.74208	1.0:0.0:0.0:0.0	.	117	Q9NX18	SDHF2_HUMAN	G	117	ENSP00000443130:D117G;ENSP00000301761:D117G	ENSP00000440939:D117G	D	+	2	0	SDHAF2;RP11-286N22.8	60962141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.106000	0.89555	2.254000	0.74563	0.533000	0.62120	GAT		0.398	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841		G	61205565	A	G	61205565	3	3	221	1	0	0	0	0	1	0	0	0	13967	333	12	4	360	4	SDHAF2	11	61205565	Missense_Mutation	SNP	A	TCGA-24-1425-01A-02W-0553-09		61205565	73800951	22	12636											
ROBO3	64221	genome.wustl.edu	37	11	124750383	124750383	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr11:124750383C>T	ENST00000397801.1	+	27	4220	c.4028C>T	c.(4027-4029)aCg>aTg	p.T1343M	ROBO3_ENST00000543966.1_Missense_Mutation_p.T106M|ROBO3_ENST00000538940.1_Missense_Mutation_p.T1321M|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1343					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.T1343M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACATGTTCCACGGCCGGCAGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	11																																								124255593	SO:0001583	missense	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4028C>T	11.37:g.124750383C>T	ENSP00000380903:p.Thr1343Met		124255593		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230615	0.79688	.	.	ENSG00000154134	ENST00000397801;ENST00000538940;ENST00000543966	T;T;T	0.71103	-0.54;-0.52;0.14	5.62	5.62	0.85841	.	0.000000	0.38897	N	0.001539	T	0.82093	0.4962	L	0.59436	1.845	0.40259	D	0.978155	D	0.89917	1.0	D	0.65987	0.94	D	0.83648	0.0154	10	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	1343	Q96MS0	ROBO3_HUMAN	M	1343;1321;106	ENSP00000380903:T1343M;ENSP00000441797:T1321M;ENSP00000438799:T106M	ENSP00000380903:T1343M	T	+	2	0	ROBO3	124255593	1.000000	0.71417	0.983000	0.44433	0.756000	0.42949	4.768000	0.62293	2.653000	0.90120	0.655000	0.94253	ACG		0.672	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		T	124750383	C	T	124750383	3	4	221	1	0	0	0	0	1	0	0	0	13518	536	19	1	4134	1	ROBO3	11	124750383	Missense_Mutation	SNP	C	TCGA-24-1425-01A-02W-0553-09	63544818	124750383	10256133	23	12637											
TUBA3C	7278	genome.wustl.edu	37	13	19748050	19748051	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	CC	CC	CC	AA	CC	CC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr13:19748050_19748051CC>AA	ENST00000400113.3	-	5	1409_1410	c.1305_1306GG>TT	c.(1303-1308)gtGGgc>gtTTgc	p.G436C		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	436					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAATCCACGCCCACCTCTTCAT	0.609																																																0			13																																								18646051	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1305_1306delinsAA	13.37:g.19748050_19748051delinsAA	ENSP00000382982:p.Gly436Cys		18646050	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	DNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.609	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		AA	19748051	CC	AA	19748050	3	1	221	1	0	0	0	0	1	0	0	0	16746	623	22	3	50	3	TUBA3C	13	19748050	Missense_Mutation	DNP	CC	TCGA-24-1425-01A-02W-0553-09		19748050	95421828	24	12638											
GTF3A	219402	genome.wustl.edu	37	13	28009711	28009711	+	IGR	SNP	G	G	A			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr13:28009711G>A	ENST00000381116.1	-	0	1104				GTF3A_ENST00000470606.1_3'UTR|GTF3A_ENST00000381140.4_Missense_Mutation_p.V359I|MTIF3_ENST00000461838.1_5'Flank			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		GCTCTCGACAGTTGCAGTACT	0.448																																																0			13											97	83	88					13																	28009711		1568	3582	5150	26907711	SO:0001628	intergenic_variant	2971			BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28009711G>A			26907711	Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161800	0.38217	.	.	ENSG00000122034	ENST00000381140;ENST00000439403	T;T	0.09255	3.0;3.07	5.55	5.55	0.83447	.	0.743246	0.13065	N	0.416576	T	0.09379	0.0231	L	0.34521	1.04	0.23906	N	0.996504	P;P	0.38827	0.649;0.518	B;B	0.33454	0.164;0.079	T	0.27739	-1.0065	9	0.21540	T	0.41	-3.2265	15.0241	0.71653	0.0:0.1419:0.8581:0.0	.	334;359	Q92664-2;Q92664	.;TF3A_HUMAN	I	359;172	ENSP00000370532:V359I;ENSP00000393050:V172I	ENSP00000370532:V359I	V	+	1	0	GTF3A	26907711	0.246000	0.23909	0.006000	0.13384	0.003000	0.03518	3.577000	0.53885	2.605000	0.88082	0.655000	0.94253	GTT		0.448	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		A	28009711	G	A	28009711	1	1	221	0	1	0	0	0	0	0	0	0	6871	1029	36	2		2	GTF3A	13	28009711	IGR	SNP	G	TCGA-24-1425-01A-02W-0553-09	8261661	28009711	87160167	25	12639											
AHNAK2	113146	genome.wustl.edu	37	14	105413217	105413217	+	Silent	SNP	C	C	T			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr14:105413217C>T	ENST00000333244.5	-	7	8690	c.8571G>A	c.(8569-8571)aaG>aaA	p.K2857K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2857						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.K2857K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCAGTGGTCTTAAGATCCC	0.642																																																1	Substitution - coding silent(1)	ovary(1)	14											124	142	136					14																	105413217		1962	4157	6119	104484262	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8571G>A	14.37:g.105413217C>T			104484262	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105413217	C	T	105413217	2	4	221	1	0	0	0	0	0	0	0	1	415	912	32	2		2	AHNAK2	14	105413217	Silent	SNP	C	TCGA-24-1425-01A-02W-0553-09		105413217	1936323	26	12640											
SLC9A5	6553	genome.wustl.edu	37	16	67298296	67298296	+	Silent	SNP	G	G	A	rs369514722		TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr16:67298296G>A	ENST00000299798.11	+	13	1949	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	628					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.A628A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CAGAGGATGCGCAGGAGCGGC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	16						G		1,4365		0,1,2182	29	34	32		1884	-10.7	0.7	16		32	0,8580		0,0,4290	no	coding-synonymous	SLC9A5	NM_004594.2		0,1,6472	AA,AG,GG		0.0,0.0229,0.0077		628/897	67298296	1,12945	2183	4290	6473	65855797	SO:0001819	synonymous_variant	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1884G>A	16.37:g.67298296G>A			65855797	A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318075	0.23994	2.29E-4	0.0	ENSG00000135740	ENST00000360183	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	T	0.32585	0.0834	.	.	.	0.43919	D	0.996561	.	.	.	.	.	.	T	0.37407	-0.9707	5	0.21540	T	0.41	.	3.9632	0.09420	0.4141:0.3194:0.1859:0.0806	.	.	.	.	H	142	.	ENSP00000353311:R142H	R	+	2	0	SLC9A5	65855797	0.002000	0.14202	0.675000	0.29917	0.955000	0.61496	-0.965000	0.03829	-1.626000	0.01552	-0.291000	0.09656	CGC		0.572	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			A	67298296	G	A	67298296	2	1	221	1	0	0	0	0	0	0	0	1	14720	1074	38	1		1	SLC9A5	16	67298296	Silent	SNP	G	TCGA-24-1425-01A-02W-0553-09		67298296	23056457	27	12641											
TP53	7157	genome.wustl.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	CATGTAGTTGTAGTGGATGGT	0.572		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"	141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	17	GRCh37	CM035576	TP53	M							119	95	103					17																	7577580		2203	4300	6503	7518305	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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys		7518305	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	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577580	T	C	7577580	3	2	221	1	0	0	0	0	1	0	0	0	16381	1638	57	4	589	4	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-24-1425-01A-02W-0553-09		7577580	73617630	28	12642											
GFAP	2670	genome.wustl.edu	37	17	42991126	42991126	+	Silent	SNP	C	C	T			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr17:42991126C>T	ENST00000253408.5	-	3	653	c.588G>A	c.(586-588)gaG>gaA	p.E196E	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Silent_p.E196E|GFAP_ENST00000586793.1_Silent_p.E196E	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	196	Coil 1B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.E196E(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				AGAACCGGATCTCCTCCTCCA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	17											175	175	175					17																	42991126		2203	4300	6503	40346652	SO:0001819	synonymous_variant	2670			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.588G>A	17.37:g.42991126C>T			40346652	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549063	0.45383	.	.	ENSG00000131095	ENST00000376990	D	0.88354	-2.37	4.71	1.29	0.21616	.	.	.	.	.	D	0.90324	0.6973	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87626	0.2513	6	0.49607	T	0.09	.	11.2267	0.48888	0.0:0.8162:0.0:0.1838	.	.	.	.	K	176	ENSP00000366189:R176K	ENSP00000366189:R176K	R	-	2	0	GFAP	40346652	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.620000	0.46410	0.157000	0.19338	0.462000	0.41574	AGA		0.582	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		T	42991126	C	T	42991126	2	4	221	1	0	0	0	0	0	0	0	1	6337	912	32	2		2	GFAP	17	42991126	Silent	SNP	C	TCGA-24-1425-01A-02W-0553-09	35413546	42991126	38204084	29	12643											
TRIM37	4591	genome.wustl.edu	37	17	57128679	57128679	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr17:57128679G>C	ENST00000262294.7	-	14	1469	c.1210C>G	c.(1210-1212)Cgt>Ggt	p.R404G	TRIM37_ENST00000393065.2_Missense_Mutation_p.R370G|TRIM37_ENST00000376149.3_Missense_Mutation_p.R282G|TRIM37_ENST00000393066.3_Missense_Mutation_p.R404G	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	404					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R404G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTTGGTGAACGTACCTGAAAC	0.343									Mulibrey Nanism																																							1	Substitution - Missense(1)	ovary(1)	17											87	86	86					17																	57128679		2203	4300	6503	54483461	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1210C>G	17.37:g.57128679G>C	ENSP00000262294:p.Arg404Gly		54483461	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964193	0.92791	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.76	5.76	0.90799	TRAF-type (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.81678	0.4873	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.994;0.999	T	0.83131	-0.0113	10	0.87932	D	0	-4.8988	19.9504	0.97197	0.0:0.0:1.0:0.0	.	370;282;404	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	G	404;404;282;370	ENSP00000376785:R404G;ENSP00000262294:R404G;ENSP00000365319:R282G;ENSP00000376784:R370G	ENSP00000262294:R404G	R	-	1	0	TRIM37	54483461	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.869000	0.99810	2.720000	0.93068	0.591000	0.81541	CGT		0.343	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		C	57128679	G	C	57128679	3	2	221	1	0	0	0	0	1	0	0	0	16511	1145	40	3	1736	3	TRIM37	17	57128679	Missense_Mutation	SNP	G	TCGA-24-1425-01A-02W-0553-09	14137553	57128679	24066531	30	12644											
SEZ6L	23544	genome.wustl.edu	37	22	26688759	26688759	+	Missense_Mutation	SNP	C	C	T	rs201671037	byFrequency	TCGA-24-1425-01A-02W-0553-09	TCGA-24-1425-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0	ef7d30e9-2213-4e03-9e0e-3017de7bc5a3	g.chr22:26688759C>T	ENST00000248933.6	+	2	577	c.482C>T	c.(481-483)aCg>aTg	p.T161M	SEZ6L_ENST00000360929.3_Missense_Mutation_p.T161M|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T161M|SEZ6L_ENST00000529632.2_Missense_Mutation_p.T161M|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T161M			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	161	O-glycosylated at one site.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.T161K(1)|p.T161M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCTCCTCCACGGAGAAGCCT	0.677													C|||	44	0.00878594	0	0	5008	,	,		16440	0		0	False		,,,				2504	0.045															2	Substitution - Missense(2)	ovary(1)|lung(1)	22											43	41	42					22																	26688759		2203	4300	6503	25018759	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.482C>T	22.37:g.26688759C>T	ENSP00000248933:p.Thr161Met		25018759	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001308	0.35320	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.28895	1.81;1.94;2.01;1.82;1.59	3.57	1.41	0.22369	.	0.655352	0.12550	N	0.459133	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	P;P;D;D;P;P	0.63046	0.918;0.918;0.992;0.992;0.918;0.918	P;P;P;P;P;P	0.54499	0.475;0.475;0.754;0.754;0.475;0.475	T	0.09164	-1.0687	10	0.66056	D	0.02	.	5.5725	0.17204	0.1569:0.6553:0.0:0.1878	.	161;161;161;161;161;161	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	M	161	ENSP00000384772:T161M;ENSP00000437037:T161M;ENSP00000354185:T161M;ENSP00000248933:T161M;ENSP00000342661:T161M	ENSP00000248933:T161M	T	+	2	0	SEZ6L	25018759	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	0.883000	0.28200	0.288000	0.22398	0.508000	0.49915	ACG		0.677	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			T	26688759	C	T	26688759	3	4	221	1	0	0	0	0	1	0	0	0	14146	536	19	1	488	1	SEZ6L	22	26688759	Missense_Mutation	SNP	C	TCGA-24-1425-01A-02W-0553-09		26688759	24615807	31	12645											
PLOD1	5351	genome.wustl.edu	37	1	12024280	12024280	+	Silent	SNP	C	C	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr1:12024280C>T	ENST00000196061.4	+	12	1278	c.1251C>T	c.(1249-1251)aaC>aaT	p.N417N	PLOD1_ENST00000376369.3_Silent_p.N464N	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	417					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.N417N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	TGTGGTCGAACTTCTGGGGGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	1											152	150	151					1																	12024280		2203	4300	6503	11946867	SO:0001819	synonymous_variant	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1251C>T	1.37:g.12024280C>T			11946867	B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	CCDS142.1																																																																																				0.627	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		T	12024280	C	T	12024280	2	4	222	1	0	0	0	0	0	0	0	1	12101	564	20	2		2	PLOD1	1	12024280	Silent	SNP	C	TCGA-24-1426-01A-01W-0549-09		12024280	237226341	1	12646											
TSPAN1	10103	genome.wustl.edu	37	1	46650757	46650757	+	Silent	SNP	C	C	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr1:46650757C>T	ENST00000372003.1	+	7	1028	c.564C>T	c.(562-564)acC>acT	p.T188T	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	188					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.T188T(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				AAACCTGCACCAAGCAAAAGG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	1											122	128	126					1																	46650757		2203	4300	6503	46423344	SO:0001819	synonymous_variant	10103			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"Tetraspanins"	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.564C>T	1.37:g.46650757C>T			46423344	D3DQ14|O60745|Q5VST0	Silent	SNP	ENST00000372003.1	37	CCDS530.1																																																																																				0.512	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1	NM_005727		T	46650757	C	T	46650757	2	4	222	1	0	0	0	0	0	0	0	1	16633	581	21	2		2	TSPAN1	1	46650757	Silent	SNP	C	TCGA-24-1426-01A-01W-0549-09	34626477	46650757	202599864	2	12647											
POLR3C	10623	genome.wustl.edu	37	1	145608205	145608205	+	Silent	SNP	A	A	G			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr1:145608205A>G	ENST00000334163.3	-	4	652	c.492T>C	c.(490-492)ccT>ccC	p.P164P	POLR3C_ENST00000369294.1_Silent_p.P164P|POLR3C_ENST00000471254.1_5'UTR|RNF115_ENST00000369291.5_5'Flank	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	164					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.P164P(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCTCAGTGGTAGGTACCGAAG	0.483																																																1	Substitution - coding silent(1)	ovary(1)	1											205	188	194					1																	145608205		2203	4300	6503	144319562	SO:0001819	synonymous_variant	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.492T>C	1.37:g.145608205A>G			144319562	O15317|Q9Y3R6	Silent	SNP	ENST00000334163.3	37	CCDS921.1																																																																																				0.483	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		G	145608205	A	G	145608205	2	3	222	1	0	0	0	0	0	0	0	1	12230	407	15	4		4	POLR3C	1	145608205	Silent	SNP	A	TCGA-24-1426-01A-01W-0549-09	98957448	145608205	103642416	3	12648											
CRIM1	51232	genome.wustl.edu	37	2	36744582	36744582	+	Silent	SNP	C	C	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr2:36744582C>T	ENST00000280527.2	+	12	2470	c.2103C>T	c.(2101-2103)tgC>tgT	p.C701C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	701	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.C701C(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTACTCAGTGCACCTGCCACA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	2											91	81	85					2																	36744582		2203	4300	6503	36598086	SO:0001819	synonymous_variant	51232			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2103C>T	2.37:g.36744582C>T			36598086	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																				0.582	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		T	36744582	C	T	36744582	2	4	222	1	0	0	0	0	0	0	0	1	3873	718	25	2		2	CRIM1	2	36744582	Silent	SNP	C	TCGA-24-1426-01A-01W-0549-09		36744582	206454791	4	12649											
KALRN	8997	genome.wustl.edu	37	3	123988076	123988076	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr3:123988076C>T	ENST00000240874.3	+	5	1094	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	KALRN_ENST00000460856.1_Missense_Mutation_p.R313W|KALRN_ENST00000360013.3_Missense_Mutation_p.R313W	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	313					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.R313W(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						CTTTCAGCTGCGGCTCTTCGA	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											38	41	40					3																	123988076		2202	4299	6501	125470766	SO:0001583	missense	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.937C>T	3.37:g.123988076C>T	ENSP00000240874:p.Arg313Trp		125470766	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261163	0.80246	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.56941	0.43;0.43;0.43	5.16	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.73009	0.3532	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.99	T	0.76214	-0.3041	10	0.48119	T	0.1	.	15.1548	0.72733	0.1422:0.8578:0.0:0.0	.	313;313;313	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	W	313	ENSP00000418611:R313W;ENSP00000240874:R313W;ENSP00000353109:R313W	ENSP00000240874:R313W	R	+	1	2	KALRN	125470766	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.949000	0.40313	1.375000	0.46248	0.655000	0.94253	CGG		0.582	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		T	123988076	C	T	123988076	3	4	222	1	0	0	0	0	1	0	0	0	7975	759	27	1	955	1	KALRN	3	123988076	Missense_Mutation	SNP	C	TCGA-24-1426-01A-01W-0549-09		123988076	74034354	5	12650											
ECE2	9718	genome.wustl.edu	37	3	183975499	183975499	+	Silent	SNP	C	C	T	rs372175263		TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr3:183975499C>T	ENST00000402825.3	+	2	435	c.435C>T	c.(433-435)acC>acT	p.T145T	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Silent_p.T145T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	145	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.T145T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCCTGGACCGTGTCCTCTG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	3						C	,	1,4405	2.1+/-5.4	0,1,2202	53	54	54		435,435	-12	0	3		54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ECE2	NM_014693.3,NM_032331.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	145/884,145/256	183975499	1,13005	2203	4300	6503	185458193	SO:0001819	synonymous_variant	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.435C>T	3.37:g.183975499C>T			185458193	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	CCDS3256.2																																																																																				0.582	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		T	183975499	C	T	183975499	2	4	222	1	0	0	0	0	0	0	0	1	4890	639	23	1		1	ECE2	3	183975499	Silent	SNP	C	TCGA-24-1426-01A-01W-0549-09	59987423	183975499	14046931	6	12651											
ARSJ	79642	genome.wustl.edu	37	4	114824078	114824078	+	Silent	SNP	G	G	A			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr4:114824078G>A	ENST00000315366.7	-	2	2018	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	ARSJ_ENST00000541197.1_Silent_p.L384L	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	384					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.L384L(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCAGTGAAATGAGAGTGGGGT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	4											164	158	160					4																	114824078		1973	4170	6143	115043527	SO:0001819	synonymous_variant	79642				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1152C>T	4.37:g.114824078G>A			115043527	A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Silent	SNP	ENST00000315366.7	37	CCDS43264.1																																																																																				0.488	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		A	114824078	G	A	114824078	2	1	222	1	0	0	0	0	0	0	0	1	995	1277	45	2		2	ARSJ	4	114824078	Silent	SNP	G	TCGA-24-1426-01A-01W-0549-09		114824078	76330198	7	12652											
DCHS2	54798	genome.wustl.edu	37	4	155242049	155242049	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	T	T	A	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr4:155242049T>A	ENST00000357232.4	-	14	3136	c.3137A>T	c.(3136-3138)gAa>gTa	p.E1046V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1046	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1046V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATTCTGATCTTCCACATCGAT	0.428																																																1	Substitution - Missense(1)	ovary(1)	4											137	131	133					4																	155242049		2203	4300	6503	155461499	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3137A>T	4.37:g.155242049T>A	ENSP00000349768:p.Glu1046Val		155461499	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469706	0.84533	.	.	ENSG00000197410	ENST00000357232	T	0.60672	0.17	5.69	5.69	0.88448	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.75547	0.3864	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75693	-0.3229	10	0.40728	T	0.16	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	1046	Q6V1P9	PCD23_HUMAN	V	1046	ENSP00000349768:E1046V	ENSP00000349768:E1046V	E	-	2	0	DCHS2	155461499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.167000	0.68274	0.460000	0.39030	GAA		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155242049	T	A	155242049	3	1	222	1	0	0	0	0	1	0	0	0	4288	1783	62	5	5661	5	DCHS2	4	155242049	Missense_Mutation	SNP	T	TCGA-24-1426-01A-01W-0549-09	40417971	155242049	35912227	8	12653											
CDH9	1007	genome.wustl.edu	37	5	26915969	26915969	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr5:26915969C>A	ENST00000231021.4	-	3	464	c.292G>T	c.(292-294)Ggc>Tgc	p.G98C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	98	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G98R(1)|p.G98C(1)|p.G98L(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATAGACTGCCAGCCCCATCT	0.363																																					Melanoma(8;187 585 15745 40864 52829)											3	Substitution - Missense(3)	lung(2)|ovary(1)	5											109	112	111					5																	26915969		2203	4299	6502	26951726	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.292G>T	5.37:g.26915969C>A	ENSP00000231021:p.Gly98Cys		26951726	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373402	0.82573	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.55052	0.54;0.54	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.82245	0.4995	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89154	0.3525	9	.	.	.	.	16.4099	0.83704	0.0:1.0:0.0:0.0	.	98;98	E7EPN0;Q9ULB4	.;CADH9_HUMAN	C	98	ENSP00000231021:G98C;ENSP00000426239:G98C	.	G	-	1	0	CDH9	26951726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.361000	0.79497	2.275000	0.75901	0.585000	0.79938	GGC		0.363	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26915969	C	A	26915969	3	1	222	1	0	0	0	0	1	0	0	0	3117	594	21	3	2117	3	CDH9	5	26915969	Missense_Mutation	SNP	C	TCGA-24-1426-01A-01W-0549-09		26915969	153999291	9	12654											
SEPT8	23176	genome.wustl.edu	37	5	132098188	132098188	+	Silent	SNP	G	G	A	rs376667090	byFrequency	TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr5:132098188G>A	ENST00000378719.2	-	5	921	c.684C>T	c.(682-684)aaC>aaT	p.N228N	SEPT8_ENST00000458488.2_Silent_p.N228N|SEPT8_ENST00000378706.1_Silent_p.N228N|SEPT8_ENST00000448933.1_Silent_p.N168N|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378699.2_Silent_p.N168N|SEPT8_ENST00000378701.1_Silent_p.N226N|SEPT8_ENST00000378721.4_Silent_p.N226N|SEPT8_ENST00000296873.7_Silent_p.N228N	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	228	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.N228N(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATGACTGCGTTAATCTCTG	0.572													G|||	2	0.000399361	8e-04	0	5008	,	,		19691	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	5						G	,,,	1,4123		0,1,2061	116	113	114		684,684,504,684	-8.4	0.5	5		114	1,8485		0,1,4242	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT8	NM_001098811.1,NM_001098812.1,NM_001098813.1,NM_015146.1	,,,	0,2,6303	AA,AG,GG		0.0118,0.0242,0.0159	,,,	228/484,228/443,168/370,228/430	132098188	2,12608	2062	4243	6305	132126087	SO:0001819	synonymous_variant	23176			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.684C>T	5.37:g.132098188G>A			132126087	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Silent	SNP	ENST00000378719.2	37	CCDS43358.1																																																																																				0.572	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		A	132098188	G	A	132098188	2	1	222	1	0	0	0	0	0	0	0	1	14073	1136	40	1		1	SEPT8	5	132098188	Silent	SNP	G	TCGA-24-1426-01A-01W-0549-09	105182219	132098188	48817072	10	12655											
ANKHD1	54882	genome.wustl.edu	37	5	139815788	139815788	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr5:139815788C>T	ENST00000360839.2	+	2	560	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	ANKHD1_ENST00000394723.3_Missense_Mutation_p.R136C|ANKHD1_ENST00000394722.3_Missense_Mutation_p.R136C|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R136C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R136C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	136						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R136C(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGACTTACGCACTGTGGA	0.378																																																2	Substitution - Missense(2)	ovary(2)	5											91	92	92					5																	139815788		2203	4300	6503	139795972	SO:0001583	missense	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.406C>T	5.37:g.139815788C>T	ENSP00000354085:p.Arg136Cys		139795972	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983567	0.53827	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.70869	-0.33;-0.36;-0.24;-0.1;-0.52;-0.4;-0.36	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0	D;P;P;D;D	0.67900	0.931;0.72;0.609;0.954;0.931	T	0.76974	-0.2760	10	0.87932	D	0	.	13.3877	0.60805	0.2635:0.7365:0.0:0.0	.	136;136;136;136;136	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	C	136;150;136;136;136;136;136;136;136	ENSP00000354085:R136C;ENSP00000297183:R136C;ENSP00000394489:R136C;ENSP00000378212:R136C;ENSP00000421069:R136C;ENSP00000378211:R136C;ENSP00000432016:R136C	ENSP00000432016:R136C	R	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139795972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.419000	0.52728	2.534000	0.85438	0.655000	0.94253	CGC		0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		T	139815788	C	T	139815788	3	4	222	1	0	0	0	0	1	0	0	0	628	536	19	1	412	1	ANKHD1	5	139815788	Missense_Mutation	SNP	C	TCGA-24-1426-01A-01W-0549-09	7717600	139815788	41099472	11	12656											
C7orf66	154907	genome.wustl.edu	37	7	108524558	108524558	+	Missense_Mutation	SNP	A	A	T	rs367868708		TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr7:108524558A>T	ENST00000379007.2	-	1	86	c.32T>A	c.(31-33)cTt>cAt	p.L11H		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	11						integral component of membrane (GO:0016021)		p.L11H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GAGTTGAGAAAGACCATCACT	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											157	127	137					7																	108524558		2203	4300	6503	108311794	SO:0001583	missense	154907			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.32T>A	7.37:g.108524558A>T	ENSP00000368292:p.Leu11His		108311794		Missense_Mutation	SNP	ENST00000379007.2	37	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405271	0.25378	.	.	ENSG00000205174	ENST00000379007	.	.	.	2.28	-0.775	0.10988	.	.	.	.	.	T	0.20577	0.0495	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.54460	0.753	T	0.15665	-1.0429	7	.	.	.	.	5.2342	0.15437	0.4835:0.0:0.5165:0.0	.	11	A4D0T2	CG066_HUMAN	H	11	.	.	L	-	2	0	C7orf66	108311794	0.001000	0.12720	0.000000	0.03702	0.535000	0.34838	0.538000	0.23160	-0.213000	0.10094	0.254000	0.18369	CTT		0.413	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		T	108524558	A	T	108524558	3	4	222	1	0	0	0	0	1	0	0	0	2412	72	3	5	323	5	C7orf66	7	108524558	Missense_Mutation	SNP	A	TCGA-24-1426-01A-01W-0549-09		108524558	50614105	12	12657											
SGCZ	137868	genome.wustl.edu	37	8	14095116	14095116	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr8:14095116C>T	ENST00000382080.1	-	4	1124	c.409G>A	c.(409-411)Gga>Aga	p.G137R	SGCZ_ENST00000421524.2_Missense_Mutation_p.G90R	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	124					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.G137R(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCAGCTGTCCGGTTAACTGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	8											363	348	353					8																	14095116		2203	4300	6503	14139487	SO:0001583	missense	137868			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.409G>A	8.37:g.14095116C>T	ENSP00000371512:p.Gly137Arg		14139487	Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	c	24.2	4.507534	0.85282	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.94537	-3.45;-3.45	5.39	5.39	0.77823	.	0.107851	0.64402	D	0.000006	D	0.96386	0.8821	M	0.75777	2.31	0.52501	D	0.999959	D;D	0.55800	0.973;0.966	P;P	0.56865	0.808;0.622	D	0.95983	0.8979	10	0.49607	T	0.09	.	18.5837	0.91181	0.0:1.0:0.0:0.0	.	90;137	Q08AT0;Q96LD1-2	.;.	R	137;90	ENSP00000371512:G137R;ENSP00000405224:G90R	ENSP00000371512:G137R	G	-	1	0	SGCZ	14139487	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	6.935000	0.75886	2.708000	0.92522	0.585000	0.79938	GGA		0.403	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		T	14095116	C	T	14095116	3	4	222	1	0	0	0	0	1	0	0	0	14207	661	23	1	549	1	SGCZ	8	14095116	Missense_Mutation	SNP	C	TCGA-24-1426-01A-01W-0549-09		14095116	132268906	13	12658											
GRHL2	79977	genome.wustl.edu	37	8	102631900	102631900	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr8:102631900G>T	ENST00000251808.3	+	9	1570	c.1232G>T	c.(1231-1233)tGc>tTc	p.C411F	GRHL2_ENST00000395927.1_Missense_Mutation_p.C395F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	411					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C411F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGAGCTTATTGCCAGATCAAG	0.338																																																1	Substitution - Missense(1)	ovary(1)	8											99	98	98					8																	102631900		2203	4300	6503	102701076	SO:0001583	missense	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1232G>T	8.37:g.102631900G>T	ENSP00000251808:p.Cys411Phe		102701076	A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245910	0.80024	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.36878	1.23;1.23	5.85	5.85	0.93711	CP2 transcription factor (1);	0.088124	0.85682	D	0.000000	T	0.69296	0.3095	M	0.89534	3.04	0.80722	D	1	D	0.57257	0.979	D	0.70935	0.971	T	0.74642	-0.3597	10	0.87932	D	0	-29.2946	20.1634	0.98142	0.0:0.0:1.0:0.0	.	411	Q6ISB3	GRHL2_HUMAN	F	411;395;411	ENSP00000251808:C411F;ENSP00000379260:C395F	ENSP00000251808:C411F	C	+	2	0	GRHL2	102701076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.097000	0.64542	2.773000	0.95371	0.655000	0.94253	TGC		0.338	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		T	102631900	G	T	102631900	3	4	222	1	0	0	0	0	1	0	0	0	6764	1319	46	3	1266	3	GRHL2	8	102631900	Missense_Mutation	SNP	G	TCGA-24-1426-01A-01W-0549-09	88536784	102631900	43732122	14	12659											
OC90	729330	genome.wustl.edu	37	8	133036962	133036962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr8:133036962G>T	ENST00000443356.2	-	15	1334	c.1248C>A	c.(1246-1248)tgC>tgA	p.C416*	OC90_ENST00000603859.1_Nonsense_Mutation_p.C400*|OC90_ENST00000262283.5_Nonsense_Mutation_p.C612*|OC90_ENST00000254627.3_Nonsense_Mutation_p.C400*			Q02509	OC90_HUMAN	otoconin 90	416	Phospholipase A2-like 3.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.C612*(1)|p.C374*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAGAGGTCATGCACTCAGCTG	0.587																																																2	Substitution - Nonsense(2)	ovary(2)	8											37	41	40					8																	133036962		2101	4229	6330	133106144	SO:0001587	stop_gained	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1248C>A	8.37:g.133036962G>T	ENSP00000390050:p.Cys416*		133106144	B4DNG8	Nonsense_Mutation	SNP	ENST00000443356.2	37		.	.	.	.	.	.	.	.	.	.	G	30	5.052725	0.93793	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	.	.	.	5.65	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5597	10.711	0.45984	0.1793:0.0:0.8207:0.0	.	.	.	.	X	400;416;612	.	ENSP00000254627:C400X	C	-	3	2	RP11-240B13.2;OC90	133106144	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	1.852000	0.39348	1.393000	0.46605	-0.254000	0.11334	TGC		0.587	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		T	133036962	G	T	133036962	4	4	222	1	0	0	0	0	0	1	0	0	10814	1311	46	3	237	3	OC90	8	133036962	Nonsense_Mutation	SNP	G	TCGA-24-1426-01A-01W-0549-09	30405062	133036962	13327060	15	12660											
OR2S2	56656	genome.wustl.edu	37	9	35957870	35957870	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr9:35957870T>C	ENST00000341959.2	-	1	281	c.226A>G	c.(226-228)Acc>Gcc	p.T76A		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	76					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T66A(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGAGGAGGTAGTGAAGCAG	0.562																																					Pancreas(172;293 2036 17878 24427 30946)											1	Substitution - Missense(1)	ovary(1)	9											90	73	79					9																	35957870		2203	4300	6503	35947870	SO:0001583	missense	56656			AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"GPCR / Class A : Olfactory receptors"	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.226A>G	9.37:g.35957870T>C	ENSP00000344040:p.Thr76Ala		35947870	Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	T	3.520	-0.097887	0.07010	.	.	ENSG00000122718	ENST00000341959	T	0.00384	7.6	4.32	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.130205	0.34959	N	0.003548	T	0.00300	0.0009	M	0.73372	2.23	0.09310	N	1	B	0.31817	0.341	B	0.27715	0.082	T	0.47947	-0.9077	10	0.87932	D	0	.	3.0641	0.06209	0.1772:0.1938:0.0:0.629	.	76	Q9NQN1	OR2S1_HUMAN	A	76	ENSP00000344040:T76A	ENSP00000344040:T76A	T	-	1	0	OR2S2	35947870	0.110000	0.22057	0.170000	0.22879	0.033000	0.12548	0.409000	0.21082	0.436000	0.26393	-0.290000	0.09829	ACC		0.562	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		C	35957870	T	C	35957870	3	2	222	1	0	0	0	0	1	0	0	0	11015	1638	57	4	737	4	OR2S2	9	35957870	Missense_Mutation	SNP	T	TCGA-24-1426-01A-01W-0549-09		35957870	105255561	16	12661											
C10orf137	26098	genome.wustl.edu	37	10	127409845	127409845	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr10:127409845C>G	ENST00000356792.4	+	2	413	c.181C>G	c.(181-183)Cga>Gga	p.R61G	C10orf137_ENST00000337623.3_Missense_Mutation_p.R61G|RP11-383C5.4_ENST00000423178.2_lincRNA|RP11-383C5.5_ENST00000430970.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R61G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGCCCCTCCTCGAACAGCATT	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											98	99	99					10																	127409845		2203	4300	6503	127399835	SO:0001583	missense	26098																														ENST00000356792.4:c.181C>G	10.37:g.127409845C>G	ENSP00000349244:p.Arg61Gly		127399835	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199203	0.58126	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.18	5.18	0.71444	.	0.308213	0.31834	N	0.006984	T	0.48660	0.1512	L	0.29908	0.895	0.43579	D	0.995914	B;B;B	0.31193	0.312;0.15;0.312	B;B;B	0.35182	0.197;0.142;0.091	T	0.40590	-0.9555	9	0.19590	T	0.45	.	16.8995	0.86109	0.0:1.0:0.0:0.0	.	61;61;61	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	G	61	.	ENSP00000336727:R61G	R	+	1	2	C10orf137	127399835	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.741000	0.68638	2.404000	0.81709	0.655000	0.94253	CGA		0.468	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			G	127409845	C	G	127409845	3	3	222	1	0	0	0	0	1	0	0	0	1594	876	31	3	187	3	C10orf137	10	127409845	Missense_Mutation	SNP	C	TCGA-24-1426-01A-01W-0549-09		127409845	8124902	17	12662											
FXYD2	486	genome.wustl.edu	37	11	117691574	117691574	+	Splice_Site	SNP	C	C	T	rs139816783		TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr11:117691574C>T	ENST00000292079.2	-	4	241	c.176G>A	c.(175-177)aGg>aAg	p.R59K	FXYD2_ENST00000532119.1_Splice_Site_p.R57K|FXYD2_ENST00000514385.1_5'Flank|FXYD2_ENST00000260287.2_Splice_Site_p.R57K|FXYD2_ENST00000528014.1_Splice_Site_p.R57K|RP11-728F11.3_ENST00000596805.1_RNA|FXYD6-FXYD2_ENST00000532984.1_3'UTR|RP11-728F11.3_ENST00000531850.2_RNA	NM_001680.4	NP_001671.2	P54710	ATNG_HUMAN	FXYD domain containing ion transport regulator 2	59					ion transmembrane transport (GO:0034220)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ion channel activity (GO:0005216)|sodium:potassium-exchanging ATPase activity (GO:0005391)|transporter activity (GO:0005215)	p.R57K(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	Cyclothiazide(DB00606)	CAGCGCTCACCTGCGCTTCTT	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		10233	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11						C	LYS/ARG,LYS/ARG,LYS/ARG	5,4397	9.9+/-24.2	0,5,2196	100	119	113		410,176,170	4.2	0.9	11	dbSNP_134	113	0,8592		0,0,4296	yes	missense-near-splice,missense-near-splice,missense-near-splice	FXYD2,FXYD6-FXYD2	NM_001204268.1,NM_001680.4,NM_021603.3	26,26,26	0,5,6492	TT,TC,CC		0.0,0.1136,0.0385	,,	137/145,59/67,57/65	117691574	5,12989	2201	4296	6497	117196784	SO:0001630	splice_region_variant	100287298			AF241236	CCDS8385.1, CCDS8386.1	11q23	2008-02-05	2003-02-28						4026	protein-coding gene	gene with protein product		601814	"hypomagnesemia 2, renal"	ATP1G1, HOMG2		9048881, 9915957	Standard	NM_021603		Approved	MGC12372		P54710		ENST00000292079.2:c.176+1G>A	11.37:g.117691574C>T			117196784	Q15332|Q53YC1|Q9GZP3|Q9GZQ7	Missense_Mutation	SNP	ENST00000292079.2	37	CCDS8386.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252889	0.80135	0.001136	0.0	ENSG00000137731	ENST00000532119;ENST00000528014;ENST00000292079;ENST00000260287	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.18	4.18	0.49190	.	.	.	.	.	T	0.79323	0.4426	.	.	.	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.79108	0.979;0.992	T	0.79822	-0.1641	7	.	.	.	.	12.1901	0.54266	0.0:1.0:0.0:0.0	.	57;59	P54710-2;P54710	.;ATNG_HUMAN	K	57;57;59;57	ENSP00000436414:R57K;ENSP00000432430:R57K;ENSP00000292079:R59K;ENSP00000260287:R57K	.	R	-	2	0	FXYD2	117196784	0.990000	0.36364	0.875000	0.34327	0.120000	0.20174	3.775000	0.55349	2.321000	0.78463	0.655000	0.94253	AGG		0.552	FXYD2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390050.1	NM_021603	Missense_Mutation	T	117691574	C	T	117691574	5	4	222	1	0	0	0	0	0	0	1	0	6118	695	24	2	32	2	FXYD2	11	117691574	Splice_Site	SNP	C	TCGA-24-1426-01A-01W-0549-09		117691574	17314942	18	12663											
ARID4A	5926	genome.wustl.edu	37	14	58831429	58831429	+	Silent	SNP	A	A	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr14:58831429A>T	ENST00000355431.3	+	20	2995	c.2622A>T	c.(2620-2622)ggA>ggT	p.G874G	ARID4A_ENST00000348476.3_Silent_p.G874G|ARID4A_ENST00000431317.2_Silent_p.G874G|ARID4A_ENST00000395168.3_Silent_p.G874G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	874					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G874G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGAGAATGGAATGGAAATGA	0.333																																																1	Substitution - coding silent(1)	ovary(1)	14											69	64	66					14																	58831429		2203	4298	6501	57901182	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2622A>T	14.37:g.58831429A>T			57901182	Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	CCDS9732.1																																																																																				0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		T	58831429	A	T	58831429	2	4	222	1	0	0	0	0	0	0	0	1	919	233	9	5		5	ARID4A	14	58831429	Silent	SNP	A	TCGA-24-1426-01A-01W-0549-09		58831429	48518111	19	12664											
TSHR	7253	genome.wustl.edu	37	14	81609337	81609337	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr14:81609337G>C	ENST00000541158.2	+	11	1257	c.935G>C	c.(934-936)aGa>aCa	p.R312T	TSHR_ENST00000298171.2_Missense_Mutation_p.R312T|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	312					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.R312T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTGCGCCAGAGAAAATCTGTG	0.493			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	1	Substitution - Missense(1)	ovary(1)	14											128	124	125					14																	81609337		2203	4300	6503	80679090	SO:0001583	missense	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.935G>C	14.37:g.81609337G>C	ENSP00000441235:p.Arg312Thr		80679090	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762549	0.31228	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.75704	-0.96;-0.96	6.08	-0.712	0.11226	.	0.382162	0.35262	N	0.003338	T	0.55481	0.1923	N	0.19112	0.55	0.50813	D	0.999897	B	0.24186	0.099	B	0.29440	0.102	T	0.40997	-0.9533	10	0.59425	D	0.04	.	6.9233	0.24401	0.48:0.0:0.4065:0.1135	.	312	F5GYU5	.	T	312	ENSP00000441235:R312T;ENSP00000298171:R312T	ENSP00000298171:R312T	R	+	2	0	TSHR	80679090	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	0.920000	0.28705	-0.044000	0.13491	0.655000	0.94253	AGA		0.493	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		C	81609337	G	C	81609337	3	2	222	1	0	0	0	0	1	0	0	0	16622	942	33	3	1110	3	TSHR	14	81609337	Missense_Mutation	SNP	G	TCGA-24-1426-01A-01W-0549-09	22777908	81609337	25740203	20	12665											
KCNK10	54207	genome.wustl.edu	37	14	88729714	88729714	+	Silent	SNP	A	A	C			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr14:88729714A>C	ENST00000340700.5	-	2	670	c.219T>G	c.(217-219)gtT>gtG	p.V73V	KCNK10_ENST00000312350.5_Silent_p.V78V|KCNK10_ENST00000319231.5_Silent_p.V78V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	73					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.V73V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAAAGATGGCAACCACCGTCT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	14											117	99	105					14																	88729714		2203	4300	6503	87799467	SO:0001819	synonymous_variant	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.219T>G	14.37:g.88729714A>C			87799467	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	CCDS9880.1																																																																																				0.582	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		C	88729714	A	C	88729714	2	2	222	1	0	0	0	0	0	0	0	1	8059	117	5	5		5	KCNK10	14	88729714	Silent	SNP	A	TCGA-24-1426-01A-01W-0549-09	7120377	88729714	18619826	21	12666											
OTUB2	78990	genome.wustl.edu	37	14	94511024	94511024	+	Silent	SNP	G	G	T	rs370284565		TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr14:94511024G>T	ENST00000203664.5	+	5	605	c.396G>T	c.(394-396)gtG>gtT	p.V132V		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	132	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.V132V(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		ACCACATCGTGCAGTTCCTGC	0.552																																																1	Substitution - coding silent(1)	ovary(1)	14											121	95	104					14																	94511024		2203	4300	6503	93580777	SO:0001819	synonymous_variant	78990			AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"OTU domain containing"	20351	protein-coding gene	gene with protein product		608338	"chromosome 14 open reading frame 137", "OTU domain, ubiquitin aldehyde binding 2"	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.396G>T	14.37:g.94511024G>T			93580777	Q6IA10|Q9H6T1	Silent	SNP	ENST00000203664.5	37	CCDS9917.1																																																																																				0.552	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1			T	94511024	G	T	94511024	2	4	222	1	0	0	0	0	0	0	0	1	11312	1306	46	3		3	OTUB2	14	94511024	Silent	SNP	G	TCGA-24-1426-01A-01W-0549-09	5781310	94511024	12838516	22	12667											
FHOD1	29109	genome.wustl.edu	37	16	67271277	67271277	+	Silent	SNP	C	C	A			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr16:67271277C>A	ENST00000258201.4	-	9	1105	c.858G>T	c.(856-858)gcG>gcT	p.A286A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	286	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.A286A(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCGGGAGCGCCGCCAGCGTCT	0.662																																																1	Substitution - coding silent(1)	ovary(1)	16											50	52	52					16																	67271277		2198	4300	6498	65828778	SO:0001819	synonymous_variant	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.858G>T	16.37:g.67271277C>A			65828778	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	CCDS10834.1																																																																																				0.662	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			A	67271277	C	A	67271277	2	1	222	1	0	0	0	0	0	0	0	1	5882	639	23	3		3	FHOD1	16	67271277	Silent	SNP	C	TCGA-24-1426-01A-01W-0549-09		67271277	23083476	23	12668											
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	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	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	222	1	0	0	0	0	1	0	0	0	16381	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-24-1426-01A-01W-0549-09		7577121	73618089	24	12669											
SRP68	6730	genome.wustl.edu	37	17	74039922	74039922	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr17:74039922C>A	ENST00000307877.2	-	13	1673	c.1512G>T	c.(1510-1512)aaG>aaT	p.K504N	SRP68_ENST00000355113.5_Missense_Mutation_p.K403N|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_Missense_Mutation_p.K165N|SRP68_ENST00000539137.1_Missense_Mutation_p.K466N	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	504					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K504N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTAGGCTGTTCTTGAAGGCGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											110	97	102					17																	74039922		2203	4300	6503	71551517	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1512G>T	17.37:g.74039922C>A	ENSP00000312066:p.Lys504Asn		71551517	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727535	0.30593	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000542536;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	6.06	3.86	0.44501	.	0.542764	0.23093	N	0.052013	T	0.27098	0.0664	N	0.05230	-0.09	0.41590	D	0.988791	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.10753	-1.0616	9	0.21540	T	0.41	-8.9799	8.7242	0.34458	0.0:0.7197:0.1559:0.1244	.	466;504	G3V1U4;Q9UHB9	.;SRP68_HUMAN	N	244;466;165;504;473;403	.	ENSP00000307756:K473N	K	-	3	2	SRP68	71551517	0.400000	0.25295	0.998000	0.56505	0.989000	0.77384	0.342000	0.19926	2.882000	0.98803	0.655000	0.94253	AAG		0.517	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		A	74039922	C	A	74039922	3	1	222	1	0	0	0	0	1	0	0	0	15158	912	32	3	387	3	SRP68	17	74039922	Missense_Mutation	SNP	C	TCGA-24-1426-01A-01W-0549-09	66462801	74039922	7155288	25	12670											
TMX3	54495	genome.wustl.edu	37	18	66381130	66381130	+	Silent	SNP	T	T	A			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr18:66381130T>A	ENST00000299608.2	-	2	370	c.54A>T	c.(52-54)gtA>gtT	p.V18V	TMX3_ENST00000443099.2_Silent_p.V18V|TMX3_ENST00000562706.1_Silent_p.V18V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	18					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.V18V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CCATATCAAGTACAACAACTG	0.294																																																1	Substitution - coding silent(1)	ovary(1)	18											32	30	31					18																	66381130		2193	4294	6487	64532110	SO:0001819	synonymous_variant	54495			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.54A>T	18.37:g.66381130T>A			64532110	B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	ENST00000299608.2	37	CCDS32840.1																																																																																				0.294	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		A	66381130	T	A	66381130	2	1	222	1	0	0	0	0	0	0	0	1	16268	1625	57	5		5	TMX3	18	66381130	Silent	SNP	T	TCGA-24-1426-01A-01W-0549-09		66381130	11696118	26	12671											
PTBP1	5725	genome.wustl.edu	37	19	805531	805531	+	Intron	SNP	C	C	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr19:805531C>T	ENST00000349038.4	+	8	965				PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.A311V|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.A304V	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.A311V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGCAGGAGCTGGTTTCCCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											257	281	273					19																	805531		2098	4201	6299	756531	SO:0001627	intron_variant	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.892+344C>T	19.37:g.805531C>T			756531	Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448857	0.84101	.	.	ENSG00000011304	ENST00000356948;ENST00000394601	T;T	0.51071	0.81;0.72	5.11	5.11	0.69529	.	0.256644	0.37669	N	0.001991	T	0.41488	0.1161	.	.	.	0.80722	D	1	B;B	0.16396	0.008;0.017	B;B	0.17722	0.019;0.017	T	0.19224	-1.0312	9	0.35671	T	0.21	-15.3367	17.5549	0.87887	0.0:1.0:0.0:0.0	.	304;311	P26599-2;Q9BUQ0	.;.	V	311;304	ENSP00000349428:A311V;ENSP00000408096:A304V	ENSP00000349428:A311V	A	+	2	0	PTBP1	756531	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.045000	0.76585	2.376000	0.81061	0.650000	0.86243	GCT		0.557	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			T	805531	C	T	805531	1	4	222	0	1	0	0	0	0	0	0	0	12728	797	28	2		2	PTBP1	19	805531	Intron	SNP	C	TCGA-24-1426-01A-01W-0549-09		805531	58323452	27	12672											
MYO1F	4542	genome.wustl.edu	37	19	8587323	8587323	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr19:8587323A>G	ENST00000338257.8	-	27	3425	c.3158T>C	c.(3157-3159)gTg>gCg	p.V1053A		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1053	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V1053A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCTTGGCCCACGTACTGGTA	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											61	64	63					19																	8587323		2085	4203	6288	8493323	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3158T>C	19.37:g.8587323A>G	ENSP00000344871:p.Val1053Ala		8493323	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.908|5.908	0.351691|0.351691	0.11182|0.11182	.|.	.|.	ENSG00000142347|ENSG00000142347	ENST00000338257|ENST00000305795	T|.	0.48201|.	0.82|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Src homology-3 domain (5);|.	.|0.194416	.|0.39615	.|U	.|0.001313	T|T	0.36744|0.36744	0.0978|0.0978	N|N	0.16602|0.16602	0.42|0.42	0.09310|0.09310	N|N	1|1	B|.	0.16802|.	0.019|.	B|.	0.22601|.	0.04|.	T|T	0.40850|0.40850	-0.9541|-0.9541	9|7	0.19590|0.87932	T|D	0.45|0	.|.	14.7786|14.7786	0.69749|0.69749	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1053|.	O00160|.	MYO1F_HUMAN|.	A|R	1053|1097	ENSP00000344871:V1053A|.	ENSP00000344871:V1053A|ENSP00000304899:W1097R	V|W	-|-	2|1	0|0	MYO1F|MYO1F	8493323|8493323	0.005000|0.005000	0.15991|0.15991	0.014000|0.014000	0.15608|0.15608	0.638000|0.638000	0.38207|0.38207	2.359000|2.359000	0.44142|0.44142	2.078000|2.078000	0.62432|0.62432	0.528000|0.528000	0.53228|0.53228	GTG|TGG		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			G	8587323	A	G	8587323	3	3	222	1	0	0	0	0	1	0	0	0	10073	159	6	4	146	4	MYO1F	19	8587323	Missense_Mutation	SNP	A	TCGA-24-1426-01A-01W-0549-09	7781792	8587323	50541660	28	12673											
COMP	1311	genome.wustl.edu	37	19	18901377	18901377	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chr19:18901377C>T	ENST00000222271.2	-	3	255	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	COMP_ENST00000542601.2_Missense_Mutation_p.A38T|COMP_ENST00000425807.1_Missense_Mutation_p.A71T	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	71	COMP N-terminal.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.A71T(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCACCGCACGCGTCACACTCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											198	210	206					19																	18901377		2203	4300	6503	18762377	SO:0001583	missense	1311			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.211G>A	19.37:g.18901377C>T	ENSP00000222271:p.Ala71Thr		18762377	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640421	0.87859	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	T;T;T	0.39787	1.06;1.06;1.06	3.96	3.96	0.45880	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain (1);	0.162831	0.40222	U	0.001154	T	0.59321	0.2185	M	0.62723	1.935	0.58432	D	0.999995	D;D	0.71674	0.991;0.998	P;D	0.66602	0.85;0.945	T	0.64041	-0.6500	10	0.59425	D	0.04	-21.272	15.196	0.73088	0.0:1.0:0.0:0.0	.	71;71	B4DKJ3;P49747	.;COMP_HUMAN	T	38;71;71;71	ENSP00000439156:A38T;ENSP00000222271:A71T;ENSP00000403792:A71T	ENSP00000222271:A71T	A	-	1	0	COMP	18762377	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.818000	0.75257	2.070000	0.61991	0.306000	0.20318	GCG		0.612	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		T	18901377	C	T	18901377	3	4	222	1	0	0	0	0	1	0	0	0	3724	768	27	1	2130	1	COMP	19	18901377	Missense_Mutation	SNP	C	TCGA-24-1426-01A-01W-0549-09	10314054	18901377	40227606	29	12674											
RPA4	29935	genome.wustl.edu	37	X	96139484	96139484	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1426-01A-01W-0549-09	TCGA-24-1426-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	063f8696-2c9d-4af4-a863-df10c42a5ea8	a3986ae3-7431-4383-b8fc-976e58f7725c	g.chrX:96139484G>T	ENST00000373040.3	+	1	578	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	59					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.V59L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CAGCTCTACTGTGTTTGACCC	0.468								Other identified genes with known or suspected DNA repair function																																								1	Substitution - Missense(1)	ovary(1)	X											151	128	136					X																	96139484		2203	4300	6503	96026140	SO:0001583	missense	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.175G>T	X.37:g.96139484G>T	ENSP00000362131:p.Val59Leu		96026140	Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638311	0.00799	.	.	ENSG00000204086	ENST00000373040	T	0.42131	0.98	3.2	-2.29	0.06805	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.10723	0.0262	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33904	-0.9850	9	0.02654	T	1	-4.2217	9.4571	0.38760	0.1458:0.2145:0.6397:0.0	.	59	Q13156	RFA4_HUMAN	L	59	ENSP00000362131:V59L	ENSP00000362131:V59L	V	+	1	0	RPA4	96026140	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.059000	0.14322	-0.762000	0.04664	-0.216000	0.12614	GTG		0.468	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		T	96139484	G	T	96139484	3	4	222	1	0	0	0	0	1	0	0	0	13542	1377	48	3	177	3	RPA4	23	96139484	Missense_Mutation	SNP	G	TCGA-24-1426-01A-01W-0549-09		96139484	59131076	30	12675											
PARS2	25973	genome.wustl.edu	37	1	55223580	55223580	+	Nonsense_Mutation	SNP	C	C	A	rs369177515		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:55223580C>A	ENST00000371279.3	-	2	1337	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	419					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.G419*(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGTCTGTTTCCGATGGTCAGA	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	1											167	154	158					1																	55223580		2203	4300	6503	54996168	SO:0001587	stop_gained	25973			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.1255G>T	1.37:g.55223580C>A	ENSP00000360327:p.Gly419*		54996168	A8K0W4|Q9H6S5|Q9UFT1	Nonsense_Mutation	SNP	ENST00000371279.3	37	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	37	6.575035	0.97676	.	.	ENSG00000162396	ENST00000371279	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-15.3131	19.756	0.96291	0.0:1.0:0.0:0.0	.	.	.	.	X	419	.	ENSP00000360327:G419X	G	-	1	0	PARS2	54996168	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.666000	0.83877	2.665000	0.90641	0.655000	0.94253	GGA		0.562	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		A	55223580	C	A	55223580	4	1	223	1	0	0	0	0	0	1	0	0	11467	661	23	3	176	3	PARS2	1	55223580	Nonsense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09		55223580	194027041	1	12676											
THEM5	284486	genome.wustl.edu	37	1	151823623	151823623	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:151823623C>A	ENST00000368817.5	-	3	501	c.370G>T	c.(370-372)Gga>Tga	p.G124*	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	124					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.G124*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCCTTGTCCTTCCACTTGG	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	1											151	139	143					1																	151823623		2203	4300	6503	150090247	SO:0001587	stop_gained	284486			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.370G>T	1.37:g.151823623C>A	ENSP00000357807:p.Gly124*		150090247	Q5T1C3	Nonsense_Mutation	SNP	ENST00000368817.5	37	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803480|4.803480	0.90623|0.90623	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000368817|ENST00000453881	.|.	.|.	.|.	6.07|6.07	4.22|4.22	0.49857|0.49857	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.36991	.|0.0987	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26360	.|-1.0105	.|3	0.32370|.	T|.	0.25|.	-9.7717|-9.7717	9.3506|9.3506	0.38136|0.38136	0.0:0.837:0.0:0.163|0.0:0.837:0.0:0.163	.|.	.|.	.|.	.|.	X|N	124|70	.|.	ENSP00000357807:G124X|.	G|K	-|-	1|3	0|2	THEM5|THEM5	150090247|150090247	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.994000|0.994000	0.84299|0.84299	3.858000|3.858000	0.55979|0.55979	0.907000|0.907000	0.36646|0.36646	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.547	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		A	151823623	C	A	151823623	4	1	223	1	0	0	0	0	0	1	0	0	15859	690	24	3	389	3	THEM5	1	151823623	Nonsense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09	96600043	151823623	97426998	2	12677											
NES	10763	genome.wustl.edu	37	1	156640550	156640550	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:156640550G>T	ENST00000368223.3	-	4	3562	c.3430C>A	c.(3430-3432)Cta>Ata	p.L1144I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1144	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.L1144I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTCCTCTAGGTCCTTTCTA	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											67	69	68					1																	156640550		2203	4300	6503	154907174	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3430C>A	1.37:g.156640550G>T	ENSP00000357206:p.Leu1144Ile		154907174	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	6.810	0.518557	0.13005	.	.	ENSG00000132688	ENST00000368223	D	0.85955	-2.05	4.88	-2.66	0.06077	.	1.585560	0.04674	N	0.411156	T	0.59459	0.2195	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.46596	-0.9180	10	0.24483	T	0.36	.	6.4662	0.21983	0.2888:0.3732:0.338:0.0	.	1144	P48681	NEST_HUMAN	I	1144	ENSP00000357206:L1144I	ENSP00000357206:L1144I	L	-	1	2	NES	154907174	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.244000	0.08903	-0.133000	0.11537	-1.226000	0.01582	CTA		0.612	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		T	156640550	G	T	156640550	3	4	223	1	0	0	0	0	1	0	0	0	10337	991	35	3	1439	3	NES	1	156640550	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	4816927	156640550	92610071	3	12678											
OR10K1	391109	genome.wustl.edu	37	1	158435794	158435794	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:158435794C>A	ENST00000289451.2	+	1	523	c.443C>A	c.(442-444)gCc>gAc	p.A148D		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A148D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATGGCTGCTGCCTGTGCCTGT	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											195	182	187					1																	158435794		2203	4300	6503	156702418	SO:0001583	missense	391109			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.443C>A	1.37:g.158435794C>A	ENSP00000289451:p.Ala148Asp		156702418	Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.392001	0.42410	.	.	ENSG00000173285	ENST00000289451	T	0.39229	1.09	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000657	T	0.60983	0.2311	M	0.89353	3.025	0.33193	D	0.551177	D	0.89917	1.0	D	0.97110	1.0	T	0.68941	-0.5276	10	0.72032	D	0.01	.	12.592	0.56447	0.0:0.8312:0.1688:0.0	.	148	Q8NGX5	O10K1_HUMAN	D	148	ENSP00000289451:A148D	ENSP00000289451:A148D	A	+	2	0	OR10K1	156702418	0.678000	0.27586	0.981000	0.43875	0.211000	0.24417	1.685000	0.37659	2.311000	0.77944	0.557000	0.71058	GCC		0.547	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			A	158435794	C	A	158435794	3	1	223	1	0	0	0	0	1	0	0	0	10913	739	26	3	445	3	OR10K1	1	158435794	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09	1795244	158435794	90814827	4	12679											
SYT2	127833	genome.wustl.edu	37	1	202568418	202568418	+	Silent	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:202568418G>T	ENST00000367267.1	-	8	1173	c.981C>A	c.(979-981)acC>acA	p.T327T	SYT2_ENST00000367268.4_Silent_p.T327T	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	327	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.T327T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCTTCTTCACGGTTGTCTTCT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	1											300	286	291					1																	202568418		2203	4300	6503	200835041	SO:0001819	synonymous_variant	127833			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.981C>A	1.37:g.202568418G>T			200835041	Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	CCDS1427.1																																																																																				0.537	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		T	202568418	G	T	202568418	2	4	223	1	0	0	0	0	0	0	0	1	15474	1103	39	3		3	SYT2	1	202568418	Silent	SNP	G	TCGA-24-1427-01A-01W-0549-09	44132624	202568418	46682203	5	12680											
LGALS8	3964	genome.wustl.edu	37	1	236700861	236700861	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:236700861G>A	ENST00000366584.4	+	3	676	c.110G>A	c.(109-111)gGg>gAg	p.G37E	LGALS8_ENST00000352231.2_Missense_Mutation_p.G37E|LGALS8_ENST00000526634.1_Missense_Mutation_p.G37E|LGALS8_ENST00000526589.1_Missense_Mutation_p.G37E|LGALS8_ENST00000527974.1_Missense_Mutation_p.G37E|LGALS8_ENST00000416919.2_Missense_Mutation_p.G37E|LGALS8_ENST00000323938.6_Missense_Mutation_p.G37E|RP11-385F5.4_ENST00000433131.1_RNA|RP11-385F5.5_ENST00000608547.1_RNA|LGALS8_ENST00000341872.6_Missense_Mutation_p.G37E|LGALS8_ENST00000450372.2_Missense_Mutation_p.G37E|LGALS8_ENST00000525042.1_Missense_Mutation_p.G37E	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	37	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.G37E(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTGATACGTGGGCATGTTCCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											113	95	101					1																	236700861		2203	4300	6503	234767484	SO:0001583	missense	3964			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.110G>A	1.37:g.236700861G>A	ENSP00000355543:p.Gly37Glu		234767484	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452267	0.84209	.	.	ENSG00000116977	ENST00000481485;ENST00000454943;ENST00000527974;ENST00000430527;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000529489;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000238181;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	H	0.97186	3.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78856	-0.2039	10	0.87932	D	0	-13.7788	19.4714	0.94965	0.0:0.0:1.0:0.0	.	37;37;37	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	E	37	ENSP00000435632:G37E;ENSP00000405504:G37E;ENSP00000431398:G37E;ENSP00000398630:G37E;ENSP00000309576:G37E;ENSP00000385999:G37E;ENSP00000435460:G37E;ENSP00000437007:G37E;ENSP00000342139:G37E;ENSP00000408657:G37E;ENSP00000355543:G37E;ENSP00000238181:G37E;ENSP00000410843:G37E;ENSP00000434860:G37E;ENSP00000437040:G37E;ENSP00000431884:G37E	ENSP00000238181:G37E	G	+	2	0	LGALS8	234767484	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.234000	0.78134	2.837000	0.97791	0.591000	0.81541	GGG		0.403	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		A	236700861	G	A	236700861	3	1	223	1	0	0	0	0	1	0	0	0	8747	1232	43	2	116	2	LGALS8	1	236700861	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	34132443	236700861	12549760	6	12681											
RYR2	6262	genome.wustl.edu	37	1	237777438	237777438	+	Missense_Mutation	SNP	C	C	G	rs562273071		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:237777438C>G	ENST00000366574.2	+	37	5327	c.5010C>G	c.(5008-5010)caC>caG	p.H1670Q	RYR2_ENST00000360064.6_Missense_Mutation_p.H1668Q|RYR2_ENST00000542537.1_Missense_Mutation_p.H1654Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1670	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H1668Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGGAACCACCGGGTGGCCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											65	66	66					1																	237777438		2061	4207	6268	235844061	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5010C>G	1.37:g.237777438C>G	ENSP00000355533:p.His1670Gln		235844061	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586676	0.28268	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96491	-4.03;-4.0;-4.02	5.78	3.88	0.44766	.	0.072808	0.50627	D	0.000113	D	0.89230	0.6656	N	0.08118	0	0.80722	D	1	B	0.19200	0.034	B	0.17433	0.018	T	0.82468	-0.0442	10	0.26408	T	0.33	.	9.9864	0.41843	0.0:0.7907:0.0:0.2093	.	1670	Q92736	RYR2_HUMAN	Q	1670;1668;1654	ENSP00000355533:H1670Q;ENSP00000353174:H1668Q;ENSP00000443798:H1654Q	ENSP00000353174:H1668Q	H	+	3	2	RYR2	235844061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.016000	0.29976	0.757000	0.33036	0.655000	0.94253	CAC		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237777438	C	G	237777438	3	3	223	1	0	0	0	0	1	0	0	0	13772	506	18	3	5156	3	RYR2	1	237777438	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09	1076577	237777438	11473183	7	12682											
PLB1	151056	genome.wustl.edu	37	2	28843845	28843845	+	Splice_Site	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:28843845G>T	ENST00000327757.5	+	49	3571	c.3527G>T	c.(3526-3528)aGg>aTg	p.R1176M	PLB1_ENST00000541605.1_Splice_Site_p.R141M|PLB1_ENST00000422425.2_Splice_Site_p.R1165M	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1176	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.R1176M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCCAGAGCTAGGTGAGTAGAT	0.577																																																1	Substitution - Missense(1)	ovary(1)	2											82	66	71					2																	28843845		2203	4300	6503	28697349	SO:0001630	splice_region_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3527+1G>T	2.37:g.28843845G>T			28697349	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.47|16.47	3.131093|3.131093	0.56828|0.56828	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000541605	.|T;T;T	.|0.46451	.|0.87;0.87;0.87	5.65|5.65	-3.33|-3.33	0.04958|0.04958	.|Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	.|0.982681	.|0.08316	.|N	.|0.964538	T|T	0.57036|0.57036	0.2026|0.2026	M|M	0.80982|0.80982	2.52|2.52	0.32555|0.32555	N|N	0.53189|0.53189	.|D;D	.|0.60575	.|0.973;0.988	.|P;P	.|0.61940	.|0.896;0.878	T|T	0.64373|0.64373	-0.6423|-0.6423	5|10	.|0.52906	.|T	.|0.07	-6.585|-6.585	7.1893|7.1893	0.25816|0.25816	0.6524:0.1446:0.203:0.0|0.6524:0.1446:0.203:0.0	.|.	.|1165;1176	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	W|M	1164|1176;1165;141	.|ENSP00000330442:R1176M;ENSP00000416440:R1165M;ENSP00000437426:R141M	.|ENSP00000330442:R1176M	G|R	+|+	1|2	0|0	PLB1|PLB1	28697349|28697349	0.665000|0.665000	0.27466|0.27466	0.946000|0.946000	0.38457|0.38457	0.400000|0.400000	0.30750|0.30750	0.229000|0.229000	0.17833|0.17833	-0.472000|-0.472000	0.06881|0.06881	0.556000|0.556000	0.70494|0.70494	GGG|AGG		0.577	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		Missense_Mutation	T	28843845	G	T	28843845	5	4	223	1	0	0	0	0	0	0	1	0	12024	1014	35	3	3754	3	PLB1	2	28843845	Splice_Site	SNP	G	TCGA-24-1427-01A-01W-0549-09		28843845	214355528	8	12683											
ALK	238	genome.wustl.edu	37	2	29940556	29940556	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:29940556G>T	ENST00000389048.3	-	2	1581	c.675C>A	c.(673-675)agC>agA	p.S225R	ALK_ENST00000431873.1_Missense_Mutation_p.S225R	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	225					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S225R(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ATTCCAAGGAGCTATGACCTG	0.393			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	1	Substitution - Missense(1)	ovary(1)	2											149	130	136					2																	29940556		2203	4300	6503	29794060	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.675C>A	2.37:g.29940556G>T	ENSP00000373700:p.Ser225Arg		29794060	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440447	0.25900	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.77750	-1.12;2.72	5.25	0.0384	0.14200	.	.	.	.	.	T	0.53722	0.1814	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31223	-0.9951	8	.	.	.	.	2.4325	0.04475	0.2277:0.1288:0.5112:0.1323	.	225	Q9UM73	ALK_HUMAN	R	225	ENSP00000373700:S225R;ENSP00000414027:S225R	.	S	-	3	2	ALK	29794060	0.000000	0.05858	0.059000	0.19551	0.034000	0.12701	0.103000	0.15292	0.012000	0.14892	-0.136000	0.14681	AGC		0.393	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		T	29940556	G	T	29940556	3	4	223	1	0	0	0	0	1	0	0	0	525	962	34	3	4299	3	ALK	2	29940556	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	1096711	29940556	213258817	9	12684											
NRXN1	9378	genome.wustl.edu	37	2	50724586	50724586	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:50724586G>T	ENST00000406316.2	-	14	4240	c.2764C>A	c.(2764-2766)Caa>Aaa	p.Q922K	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.Q962K|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q922K|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q922K|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q914K|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q914K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	922	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.Q922K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGTAGGCTTGCAAGGTAGCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											134	123	126					2																	50724586		1928	4155	6083	50578090	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2764C>A	2.37:g.50724586G>T	ENSP00000384311:p.Gln922Lys		50578090	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202225	0.79127	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	L	0.45744	1.44	0.50813	D	0.99989	D;D;D	0.63046	0.992;0.969;0.972	D;P;P	0.65233	0.933;0.737;0.622	T	0.76658	-0.2878	10	0.15499	T	0.54	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	962;922;914	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	962;922;914;922;963;914;922	ENSP00000385142:Q962K;ENSP00000384311:Q922K;ENSP00000434015:Q914K;ENSP00000385017:Q922K;ENSP00000385434:Q914K;ENSP00000385681:Q922K	ENSP00000385017:Q922K	Q	-	1	0	NRXN1	50578090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.906000	0.99361	0.655000	0.94253	CAA		0.403	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50724586	G	T	50724586	3	4	223	1	0	0	0	0	1	0	0	0	10665	1328	46	3	2062	3	NRXN1	2	50724586	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	20784030	50724586	192474787	10	12685											
BMP10	27302	genome.wustl.edu	37	2	69093516	69093516	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:69093516T>A	ENST00000295379.1	-	2	680	c.522A>T	c.(520-522)aaA>aaT	p.K174N		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	174					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.K174N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATTATCCCCTTTGCTCTCCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											113	91	99					2																	69093516		2203	4300	6503	68947020	SO:0001583	missense	27302			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.522A>T	2.37:g.69093516T>A	ENSP00000295379:p.Lys174Asn		68947020	Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	T	2.236	-0.374947	0.05034	.	.	ENSG00000163217	ENST00000295379	T	0.65549	-0.16	5.96	2.24	0.28232	Transforming growth factor-beta, N-terminal (1);	0.885859	0.10101	N	0.715924	T	0.28830	0.0715	N	0.02011	-0.69	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.21348	-1.0248	10	0.17832	T	0.49	.	2.4607	0.04540	0.2312:0.067:0.2396:0.4623	.	174	O95393	BMP10_HUMAN	N	174	ENSP00000295379:K174N	ENSP00000295379:K174N	K	-	3	2	BMP10	68947020	0.000000	0.05858	0.012000	0.15200	0.391000	0.30476	-0.110000	0.10824	0.452000	0.26830	0.528000	0.53228	AAA		0.448	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		A	69093516	T	A	69093516	3	1	223	1	0	0	0	0	1	0	0	0	1457	1606	56	5	756	5	BMP10	2	69093516	Missense_Mutation	SNP	T	TCGA-24-1427-01A-01W-0549-09	18368930	69093516	174105857	11	12686											
LRRTM1	347730	genome.wustl.edu	37	2	80529619	80529619	+	Silent	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:80529619C>A	ENST00000295057.3	-	2	1982	c.1326G>T	c.(1324-1326)gtG>gtT	p.V442V	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.V442V|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	442					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V442V(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCACCAGGACCACGATGAGGA	0.602										HNSCC(69;0.2)																																						1	Substitution - coding silent(1)	ovary(1)	2											106	93	97					2																	80529619		2203	4300	6503	80383130	SO:0001819	synonymous_variant	347730			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1326G>T	2.37:g.80529619C>A			80383130	A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	CCDS1966.1																																																																																				0.602	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		A	80529619	C	A	80529619	2	1	223	1	0	0	0	0	0	0	0	1	9039	581	21	3		3	LRRTM1	2	80529619	Silent	SNP	C	TCGA-24-1427-01A-01W-0549-09	11436103	80529619	162669754	12	12687											
MFSD9	84804	genome.wustl.edu	37	2	103335468	103335468	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:103335468T>A	ENST00000258436.5	-	6	879	c.836A>T	c.(835-837)aAc>aTc	p.N279I	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	279					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.N279I(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AAACAGCAGGTTCTTCATGTT	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											99	77	84					2																	103335468		2203	4300	6503	102701900	SO:0001583	missense	84804				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.836A>T	2.37:g.103335468T>A	ENSP00000258436:p.Asn279Ile		102701900	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839579	0.32513	.	.	ENSG00000135953	ENST00000258436	T	0.57107	0.42	4.97	-2.03	0.07365	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.124210	0.06278	N	0.696904	T	0.40015	0.1100	L	0.40543	1.245	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.31724	-0.9933	10	0.34782	T	0.22	-10.8014	6.3304	0.21266	0.0:0.3537:0.2211:0.4252	.	279	Q8NBP5	MFSD9_HUMAN	I	279	ENSP00000258436:N279I	ENSP00000258436:N279I	N	-	2	0	MFSD9	102701900	0.020000	0.18652	0.280000	0.24747	0.120000	0.20174	-0.016000	0.12613	-0.049000	0.13379	-0.937000	0.02696	AAC		0.567	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		A	103335468	T	A	103335468	3	1	223	1	0	0	0	0	1	0	0	0	9539	1725	60	5	592	5	MFSD9	2	103335468	Missense_Mutation	SNP	T	TCGA-24-1427-01A-01W-0549-09	22805849	103335468	139863905	13	12688											
BIN1	274	genome.wustl.edu	37	2	127827574	127827574	+	Silent	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:127827574G>T	ENST00000316724.5	-	5	819	c.408C>A	c.(406-408)atC>atA	p.I136I	BIN1_ENST00000352848.3_Silent_p.I136I|BIN1_ENST00000393040.3_Silent_p.I136I|BIN1_ENST00000351659.3_Silent_p.I136I|BIN1_ENST00000409400.1_Silent_p.I136I|BIN1_ENST00000393041.3_Silent_p.I136I|BIN1_ENST00000348750.4_Silent_p.I136I|BIN1_ENST00000357970.3_Silent_p.I136I|BIN1_ENST00000376113.2_Silent_p.I136I|BIN1_ENST00000259238.4_Silent_p.I136I|BIN1_ENST00000346226.3_Silent_p.I136I	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	136	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)	p.I136I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCTCACCTTGATGTCGGGGA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	2											118	94	102					2																	127827574		2203	4300	6503	127544044	SO:0001819	synonymous_variant	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.408C>A	2.37:g.127827574G>T			127544044	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	CCDS2138.1																																																																																				0.612	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		T	127827574	G	T	127827574	2	4	223	1	0	0	0	0	0	0	0	1	1432	1280	45	3		3	BIN1	2	127827574	Silent	SNP	G	TCGA-24-1427-01A-01W-0549-09	24492106	127827574	115371799	14	12689											
TTN	7273	genome.wustl.edu	37	2	179436090	179436090	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:179436090G>T	ENST00000591111.1	-	276	70070	c.69846C>A	c.(69844-69846)gaC>gaA	p.D23282E	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15983E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16050E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D24923E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15858E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D22355E			Q8WZ42	TITIN_HUMAN	titin	23282	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.		D -> N (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D22353E(1)|p.D15858E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCATGCTGTCCCTGGAGG	0.473																																																2	Substitution - Missense(2)	ovary(2)	2											119	112	114					2																	179436090		1938	4164	6102	179144336	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69846C>A	2.37:g.179436090G>T	ENSP00000465570:p.Asp23282Glu		179144336	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	10.41	1.343001	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.29	4.4	0.53042	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38983	0.1061	L	0.28115	0.83	0.48040	D	0.999577	B;B;B;B	0.28026	0.198;0.198;0.198;0.198	B;B;B;B	0.30316	0.114;0.114;0.114;0.114	T	0.39522	-0.9610	9	0.87932	D	0	.	8.4495	0.32862	0.2212:0.0:0.7788:0.0	.	15858;15983;16050;23282	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	22355;15858;16050;15983;15856	ENSP00000343764:D22355E;ENSP00000434586:D15858E;ENSP00000340554:D16050E;ENSP00000352154:D15983E	ENSP00000340554:D16050E	D	-	3	2	TTN	179144336	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.032000	0.30178	2.636000	0.89361	0.650000	0.86243	GAC		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179436090	G	T	179436090	3	4	223	1	0	0	0	0	1	0	0	0	16735	1368	48	3	33358	3	TTN	2	179436090	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	51608516	179436090	63763283	15	12690											
SDPR	8436	genome.wustl.edu	37	2	192711271	192711271	+	Silent	SNP	C	C	T	rs116535615	byFrequency	TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:192711271C>T	ENST00000304141.4	-	1	710	c.381G>A	c.(379-381)gcG>gcA	p.A127A	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response									p.A127A(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCTCTTTGACCGCGCGCGTGT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	2											70	63	66					2																	192711271		2203	4300	6503	192419516	SO:0001819	synonymous_variant	8436			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.381G>A	2.37:g.192711271C>T			192419516		Silent	SNP	ENST00000304141.4	37	CCDS2313.1																																																																																				0.597	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		T	192711271	C	T	192711271	2	4	223	1	0	0	0	0	0	0	0	1	13973	639	23	1		1	SDPR	2	192711271	Silent	SNP	C	TCGA-24-1427-01A-01W-0549-09	13275181	192711271	50488102	16	12691											
SATB2	23314	genome.wustl.edu	37	2	200137336	200137336	+	Silent	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:200137336C>T	ENST00000417098.1	-	11	2616	c.1800G>A	c.(1798-1800)gcG>gcA	p.A600A	SATB2_ENST00000428695.1_Silent_p.A482A|SATB2_ENST00000443023.1_Silent_p.A541A|SATB2_ENST00000260926.5_Silent_p.A600A|SATB2_ENST00000457245.1_Silent_p.A600A	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	600					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.A600A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTGGGGGAGGCGCTTCTTCTC	0.502																																					Colon(30;262 767 11040 24421 36230)											1	Substitution - coding silent(1)	ovary(1)	2											72	82	79					2																	200137336		2203	4300	6503	199845581	SO:0001819	synonymous_variant	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1800G>A	2.37:g.200137336C>T			199845581	A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	CCDS2327.1																																																																																				0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		T	200137336	C	T	200137336	2	4	223	1	0	0	0	0	0	0	0	1	13857	755	27	1		1	SATB2	2	200137336	Silent	SNP	C	TCGA-24-1427-01A-01W-0549-09	7426065	200137336	43062037	17	12692											
LSM3	27258	genome.wustl.edu	37	3	14239604	14239604	+	Silent	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:14239604G>T	ENST00000306024.3	+	4	800	c.297G>T	c.(295-297)ctG>ctT	p.L99L		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	99					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L99L(1)		central_nervous_system(1)|large_intestine(2)|ovary(1)	4						CCCCTCCACTGAGAGTTGGCT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	3											88	86	87					3																	14239604		2203	4300	6503	14214608	SO:0001819	synonymous_variant	27258			AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.297G>T	3.37:g.14239604G>T			14214608	Q6IAH0|Q9Y4Z1	Silent	SNP	ENST00000306024.3	37	CCDS2619.1																																																																																				0.418	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252078.3	NM_014463		T	14239604	G	T	14239604	2	4	223	1	0	0	0	0	0	0	0	1	9057	1277	45	3		3	LSM3	3	14239604	Silent	SNP	G	TCGA-24-1427-01A-01W-0549-09		14239604	183782826	18	12693											
CLASP2	23122	genome.wustl.edu	37	3	33614665	33614665	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:33614665C>A	ENST00000468888.2	-	26	2709	c.2663G>T	c.(2662-2664)tGg>tTg	p.W888L	CLASP2_ENST00000307312.7_Missense_Mutation_p.W368L|CLASP2_ENST00000359576.5_Missense_Mutation_p.W879L|CLASP2_ENST00000539981.1_Missense_Mutation_p.W657L|CLASP2_ENST00000480013.1_Missense_Mutation_p.W667L|CLASP2_ENST00000461133.3_Missense_Mutation_p.W646L|CLASP2_ENST00000399362.4_Missense_Mutation_p.W887L			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	667	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.W879L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CCTTTCTGACCAATTGGAACT	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											268	252	257					3																	33614665		1905	4128	6033	33589669	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2663G>T	3.37:g.33614665C>A	ENSP00000419974:p.Trp888Leu		33589669	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.772308	0.96922	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000475576	T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.120194	0.64402	D	0.000010	D	0.82430	0.5035	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.997	T	0.82499	-0.0427	10	0.62326	D	0.03	-8.6062	19.9058	0.97007	0.0:1.0:0.0:0.0	.	667;879;887	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	L	888;887;879;368;657;667;646;178	ENSP00000419974:W888L;ENSP00000382297:W887L;ENSP00000352581:W879L;ENSP00000304743:W368L;ENSP00000439039:W657L;ENSP00000417518:W667L;ENSP00000419305:W646L	ENSP00000304743:W368L	W	-	2	0	CLASP2	33589669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.506000	0.60428	2.779000	0.95612	0.650000	0.86243	TGG		0.403	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		A	33614665	C	A	33614665	3	1	223	1	0	0	0	0	1	0	0	0	3455	595	21	3	1940	3	CLASP2	3	33614665	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09	19375061	33614665	164407765	19	12694											
SETD2	29072	genome.wustl.edu	37	3	47163179	47163179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:47163179C>A	ENST00000409792.3	-	3	2989	c.2947G>T	c.(2947-2949)Gaa>Taa	p.E983*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	983					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E983*(1)|p.E480*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCCTCTTTCATCTAAAGAG	0.393			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	ovary(2)	3											88	87	87					3																	47163179		2203	4300	6503	47138183	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2947G>T	3.37:g.47163179C>A	ENSP00000386759:p.Glu983*		47138183	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960320	0.74016	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.16	4.2	0.49525	.	0.353337	0.24139	N	0.041181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	11.0153	0.47685	0.0:0.8558:0.0:0.1442	.	.	.	.	X	983;983;983;939	.	ENSP00000386759:E983X	E	-	1	0	SETD2	47138183	0.213000	0.23551	1.000000	0.80357	0.124000	0.20399	1.658000	0.37376	2.667000	0.90743	0.650000	0.86243	GAA		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47163179	C	A	47163179	4	1	223	1	0	0	0	0	0	1	0	0	14134	835	29	3	4823	3	SETD2	3	47163179	Nonsense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09	13548514	47163179	150859251	20	12695											
CCDC71	64925	genome.wustl.edu	37	3	49200748	49200748	+	Silent	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:49200748C>T	ENST00000321895.6	-	2	1000	c.894G>A	c.(892-894)aaG>aaA	p.K298K		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	298								p.K298K(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTCGAGCCACCTTGGCTTGGG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	3											56	47	50					3																	49200748		2203	4300	6503	49175752	SO:0001819	synonymous_variant	64925			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.894G>A	3.37:g.49200748C>T			49175752	Q6IPE2|Q9H8H4|Q9H9F1	Silent	SNP	ENST00000321895.6	37	CCDS2790.1																																																																																				0.622	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		T	49200748	C	T	49200748	2	4	223	1	0	0	0	0	0	0	0	1	2844	680	24	2		2	CCDC71	3	49200748	Silent	SNP	C	TCGA-24-1427-01A-01W-0549-09	2037569	49200748	148821682	21	12696											
MYH15	22989	genome.wustl.edu	37	3	108205366	108205366	+	Silent	SNP	G	G	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:108205366G>C	ENST00000273353.3	-	11	995	c.939C>G	c.(937-939)ctC>ctG	p.L313L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	313	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L313L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAGATACCAGGAGCAGGTCTA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	3											80	80	80					3																	108205366		1875	4106	5981	109688056	SO:0001819	synonymous_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.939C>G	3.37:g.108205366G>C			109688056		Silent	SNP	ENST00000273353.3	37	CCDS43127.1																																																																																				0.428	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		C	108205366	G	C	108205366	2	2	223	1	0	0	0	0	0	0	0	1	10034	1161	41	3		3	MYH15	3	108205366	Silent	SNP	G	TCGA-24-1427-01A-01W-0549-09	59004618	108205366	89817064	22	12697											
POLQ	10721	genome.wustl.edu	37	3	121187162	121187162	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:121187162G>A	ENST00000264233.5	-	23	6963	c.6835C>T	c.(6835-6837)Ccc>Tcc	p.P2279S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2279					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.P2414S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGCCCATGGGAAGTAGGCCT	0.363								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - Missense(1)	ovary(1)	3											149	146	147					3																	121187162		2203	4300	6503	122669852	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6835C>T	3.37:g.121187162G>A	ENSP00000264233:p.Pro2279Ser		122669852	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488372	0.64074	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50548	0.74	5.24	3.43	0.39272	.	0.558653	0.19017	N	0.124911	T	0.34019	0.0883	N	0.22421	0.69	0.09310	N	1	P;P	0.48294	0.78;0.908	B;B	0.43916	0.335;0.436	T	0.09684	-1.0663	10	0.23302	T	0.38	.	11.0065	0.47637	0.074:0.133:0.793:0.0	.	2279;1451	O75417;O75417-2	DPOLQ_HUMAN;.	S	1902;2279;2415	ENSP00000264233:P2279S	ENSP00000264233:P2279S	P	-	1	0	POLQ	122669852	0.005000	0.15991	0.087000	0.20705	0.818000	0.46254	0.600000	0.24104	1.557000	0.49525	0.650000	0.86243	CCC		0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		A	121187162	G	A	121187162	3	1	223	1	0	0	0	0	1	0	0	0	12208	1174	41	2	969	2	POLQ	3	121187162	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	12981796	121187162	76835268	23	12698											
MYLK	4638	genome.wustl.edu	37	3	123348324	123348324	+	Missense_Mutation	SNP	A	A	G	rs146600235		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:123348324A>G	ENST00000475616.1	-	27	5110	c.5111T>C	c.(5110-5112)aTg>aCg	p.M1704T	MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000346322.5_Missense_Mutation_p.M1635T|MYLK_ENST00000354792.5_Missense_Mutation_p.M504T|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.M1704T|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1704	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.M1704T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCATTACTTCATATCTTTCTT	0.522																																																1	Substitution - Missense(1)	ovary(1)	3						A	THR/MET,THR/MET,,	1,4405	2.1+/-5.4	0,1,2202	113	105	108		5111,4904,,	5.7	1	3	dbSNP_134	108	0,8600		0,0,4300	no	missense,missense,intron,intron	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	81,81,,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,	1704/1915,1635/1846,,	123348324	1,13005	2203	4300	6503	124831014	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5111T>C	3.37:g.123348324A>G	ENSP00000418335:p.Met1704Thr		124831014	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231121	0.79688	2.27E-4	0.0	ENSG00000065534	ENST00000360304;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.46908	0.1417	N	0.12569	0.235	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.994;0.997	D;D;D	0.79784	0.983;0.983;0.993	T	0.50808	-0.8784	9	0.40728	T	0.16	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1704;1635;1704	Q15746-6;Q15746-2;Q15746	.;.;MYLK_HUMAN	T	1704;1635;504;1704	ENSP00000353452:M1704T;ENSP00000320622:M1635T;ENSP00000346846:M504T;ENSP00000418335:M1704T	ENSP00000320622:M1635T	M	-	2	0	MYLK	124831014	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	ATG		0.522	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		G	123348324	A	G	123348324	3	3	223	1	0	0	0	0	1	0	0	0	10056	217	8	4	653	4	MYLK	3	123348324	Missense_Mutation	SNP	A	TCGA-24-1427-01A-01W-0549-09	2161162	123348324	74674106	24	12699											
TRPC1	7220	genome.wustl.edu	37	3	142522858	142522858	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:142522858C>A	ENST00000476941.1	+	11	2283	c.1797C>A	c.(1795-1797)ttC>ttA	p.F599L	TRPC1_ENST00000273482.6_Missense_Mutation_p.F565L|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	599					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.F565L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GGTATATTTTCTCCTTAGCGC	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											111	101	104					3																	142522858		2203	4300	6503	144005548	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1797C>A	3.37:g.142522858C>A	ENSP00000419313:p.Phe599Leu		144005548	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349575	0.61183	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98400	-4.91;-4.91	5.33	3.52	0.40303	Ion transport (1);	0.096368	0.64402	D	0.000001	D	0.98369	0.9458	M	0.77616	2.38	0.80722	D	1	B;P;D	0.67145	0.294;0.517;0.996	B;B;D	0.69824	0.165;0.226;0.966	D	0.98336	1.0536	10	0.72032	D	0.01	-13.0343	6.8532	0.24026	0.0:0.6555:0.1338:0.2107	.	565;599;565	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	L	599;565;118	ENSP00000419313:F599L;ENSP00000273482:F565L	ENSP00000273482:F565L	F	+	3	2	TRPC1	144005548	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.651000	0.24873	1.388000	0.46506	0.650000	0.86243	TTC		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		A	142522858	C	A	142522858	3	1	223	1	0	0	0	0	1	0	0	0	16578	912	32	3	1733	3	TRPC1	3	142522858	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09	19174534	142522858	55499572	25	12700											
TNIK	23043	genome.wustl.edu	37	3	170819364	170819364	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:170819364G>C	ENST00000436636.2	-	22	2809	c.2465C>G	c.(2464-2466)cCa>cGa	p.P822R	TNIK_ENST00000369326.5_Missense_Mutation_p.P800R|TNIK_ENST00000475336.1_Missense_Mutation_p.P730R|TNIK_ENST00000284483.8_Missense_Mutation_p.P814R|TNIK_ENST00000357327.5_Missense_Mutation_p.P793R|TNIK_ENST00000470834.1_Missense_Mutation_p.P785R|TNIK_ENST00000341852.6_Missense_Mutation_p.P738R|TNIK_ENST00000538048.1_Missense_Mutation_p.P774R|TNIK_ENST00000460047.1_Missense_Mutation_p.P759R|TNIK_ENST00000488470.1_Missense_Mutation_p.P767R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	822	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P822R(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTTCTTCATTGGGCGGTTTGT	0.463																																																1	Substitution - Missense(1)	ovary(1)	3											254	239	244					3																	170819364		2046	4202	6248	172302058	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2465C>G	3.37:g.170819364G>C	ENSP00000399511:p.Pro822Arg		172302058	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166274	0.78339	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.85130	0.996;0.994;0.996;0.996;0.997;0.994;0.996;0.993	D	0.93041	0.6457	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	730;785;759;738;814;793;767;822	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	R	822;800;774;738;814;730;793;759;767;785	ENSP00000399511:P822R;ENSP00000358332:P800R;ENSP00000443278:P774R;ENSP00000345352:P738R;ENSP00000284483:P814R;ENSP00000418156:P730R;ENSP00000349880:P793R;ENSP00000418916:P759R;ENSP00000418378:P767R;ENSP00000419990:P785R	ENSP00000284483:P814R	P	-	2	0	TNIK	172302058	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	5.038000	0.64177	2.857000	0.98124	0.650000	0.86243	CCA		0.463	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		C	170819364	G	C	170819364	3	2	223	1	0	0	0	0	1	0	0	0	16313	1348	47	3	1665	3	TNIK	3	170819364	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	28296506	170819364	27203066	26	12701											
ZDHHC19	131540	genome.wustl.edu	37	3	195938078	195938078	+	Silent	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:195938078G>A	ENST00000296326.3	-	1	188	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	37						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.L37L(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AAGACCAGCAGCACCACATTG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	3											120	148	139					3																	195938078		2089	4215	6304	197422475	SO:0001819	synonymous_variant	131540			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.109C>T	3.37:g.195938078G>A			197422475	A8MSY6|B3KVI1	Silent	SNP	ENST00000296326.3	37	CCDS43190.1																																																																																				0.562	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		A	195938078	G	A	195938078	2	1	223	1	0	0	0	0	0	0	0	1	17609	962	34	2		2	ZDHHC19	3	195938078	Silent	SNP	G	TCGA-24-1427-01A-01W-0549-09	25118714	195938078	2084352	27	12702											
KDR	3791	genome.wustl.edu	37	4	55981161	55981161	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr4:55981161C>T	ENST00000263923.4	-	5	833	c.538G>A	c.(538-540)Gac>Aac	p.D180N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	180	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D180N(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCTTGCTGTCCCAGGAAATT	0.368			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Missense(1)	ovary(1)	4											64	63	63					4																	55981161		2203	4300	6503	55675918	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.538G>A	4.37:g.55981161C>T	ENSP00000263923:p.Asp180Asn		55675918	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974181	0.74246	.	.	ENSG00000128052	ENST00000263923	T	0.29397	1.57	5.9	5.9	0.94986	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.60012	1.86	0.80722	D	1	P;P	0.35656	0.514;0.476	B;B	0.33890	0.105;0.172	T	0.06445	-1.0826	10	0.48119	T	0.1	.	15.3556	0.74425	0.0:0.9317:0.0:0.0683	.	180;180	P35968-2;P35968	.;VGFR2_HUMAN	N	180	ENSP00000263923:D180N	ENSP00000263923:D180N	D	-	1	0	KDR	55675918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.366000	0.59492	2.788000	0.95919	0.655000	0.94253	GAC		0.368	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55981161	C	T	55981161	3	4	223	1	0	0	0	0	1	0	0	0	8139	855	30	2	3636	2	KDR	4	55981161	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09		55981161	135173115	28	12703											
GPRIN3	285513	genome.wustl.edu	37	4	90169744	90169744	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr4:90169744G>T	ENST00000609438.1	-	2	2036	c.1518C>A	c.(1516-1518)gaC>gaA	p.D506E	GPRIN3_ENST00000333209.4_Missense_Mutation_p.D506E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	506								p.D506E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGCAATCTGGGTCTGTTTTGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	4											88	96	94					4																	90169744		2203	4300	6503	90388767	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1518C>A	4.37:g.90169744G>T	ENSP00000476603:p.Asp506Glu		90388767	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	2.176	-0.388735	0.04932	.	.	ENSG00000185477	ENST00000333209	T	0.08984	3.03	5.38	-3.69	0.04450	.	0.713798	0.11522	N	0.555623	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42783	-0.9431	10	0.02654	T	1	-3.9639	1.7548	0.02980	0.2005:0.3639:0.2035:0.2322	.	506	Q6ZVF9	GRIN3_HUMAN	E	506	ENSP00000328672:D506E	ENSP00000328672:D506E	D	-	3	2	GPRIN3	90388767	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.750000	0.04808	-0.679000	0.05217	-0.150000	0.13652	GAC		0.448	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		T	90169744	G	T	90169744	3	4	223	1	0	0	0	0	1	0	0	0	6731	1252	44	3	816	3	GPRIN3	4	90169744	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	34188583	90169744	100984532	29	12704											
RG9MTD2	93587	genome.wustl.edu	37	4	100479349	100479349	+	Missense_Mutation	SNP	G	G	A	rs200328690		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr4:100479349G>A	ENST00000273962.3	-	3	517	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	TRMT10A_ENST00000394877.3_Missense_Mutation_p.R69C|TRMT10A_ENST00000394876.2_Missense_Mutation_p.R69C	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	69					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R69C(1)									TTCCTCTTGCGTTTTTCTTTT	0.323													G|||	1	0.000199681	8e-04	0	5008	,	,		18005	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4											174	146	155					4																	100479349		2203	4299	6502	100698372	SO:0001583	missense	93587			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.205C>T	4.37:g.100479349G>A	ENSP00000273962:p.Arg69Cys		100698372	B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	CCDS3650.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.4	4.523683	0.85600	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.52983	1.99;1.99;1.99;1.23;0.64	5.78	5.78	0.91487	.	0.047587	0.85682	D	0.000000	T	0.66886	0.2835	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	P	0.53185	0.72	T	0.70898	-0.4747	10	0.66056	D	0.02	-5.7241	20.3754	0.98918	0.0:0.0:1.0:0.0	.	69	Q8TBZ6	RG9D2_HUMAN	C	69	ENSP00000378343:R69C;ENSP00000273962:R69C;ENSP00000378342:R69C;ENSP00000397551:R69C;ENSP00000423628:R69C	ENSP00000273962:R69C	R	-	1	0	RG9MTD2	100698372	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.263000	0.65507	2.894000	0.99253	0.591000	0.81541	CGC		0.323	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		A	100479349	G	A	100479349	3	1	223	1	0	0	0	0	1	0	0	0	13275	1145	40	1	838	1	RG9MTD2	4	100479349	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	10309605	100479349	90674927	30	12705											
ADCY2	108	genome.wustl.edu	37	5	7802364	7802364	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr5:7802364G>A	ENST00000338316.4	+	21	2751	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	ADCY2_ENST00000537121.1_Missense_Mutation_p.V708I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	888					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V888I(3)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTGCGTCTGCGTCATGTTTGC	0.488																																																3	Substitution - Missense(3)	ovary(2)|large_intestine(1)	5											82	78	79					5																	7802364		2203	4300	6503	7855364	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2662G>A	5.37:g.7802364G>A	ENSP00000342952:p.Val888Ile		7855364	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	31	5.078655	0.94050	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.80653	-1.4;-1.4	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.87613	0.6221	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87987	0.2747	10	0.56958	D	0.05	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	708;888	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	888;41;721;708	ENSP00000342952:V888I;ENSP00000444803:V708I	ENSP00000342952:V888I	V	+	1	0	ADCY2	7855364	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.506000	0.97992	2.447000	0.82792	0.591000	0.81541	GTC		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7802364	G	A	7802364	3	1	223	1	0	0	0	0	1	0	0	0	294	1145	40	1	2744	1	ADCY2	5	7802364	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09		7802364	173112896	31	12706											
FEM1C	56929	genome.wustl.edu	37	5	114878877	114878877	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr5:114878877T>C	ENST00000274457.3	-	2	875	c.314A>G	c.(313-315)cAt>cGt	p.H105R		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	105					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.H105R(1)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		AGATGCTCCATGATTTAACAA	0.488																																																1	Substitution - Missense(1)	ovary(1)	5											78	76	77					5																	114878877		2202	4300	6502	114906776	SO:0001583	missense	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.314A>G	5.37:g.114878877T>C	ENSP00000274457:p.His105Arg		114906776	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	T	9.429	1.085116	0.20390	.	.	ENSG00000145780	ENST00000274457	T	0.65178	-0.14	5.52	4.37	0.52481	Ankyrin repeat-containing domain (4);	0.053104	0.64402	D	0.000001	T	0.34919	0.0914	N	0.05199	-0.095	0.51482	D	0.99992	B	0.06786	0.001	B	0.08055	0.003	T	0.21348	-1.0248	10	0.09590	T	0.72	-19.6833	9.848	0.41039	0.0:0.1361:0.0:0.8639	.	105	Q96JP0	FEM1C_HUMAN	R	105	ENSP00000274457:H105R	ENSP00000274457:H105R	H	-	2	0	FEM1C	114906776	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.505000	0.53356	2.095000	0.63458	0.482000	0.46254	CAT		0.488	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		C	114878877	T	C	114878877	3	2	223	1	0	0	0	0	1	0	0	0	5811	1464	51	4	1547	4	FEM1C	5	114878877	Missense_Mutation	SNP	T	TCGA-24-1427-01A-01W-0549-09	107076513	114878877	66036383	32	12707											
SKIV2L	6499	genome.wustl.edu	37	6	31931858	31931858	+	Missense_Mutation	SNP	C	C	T	rs78026291	byFrequency	TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr6:31931858C>T	ENST00000375394.2	+	16	1929	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R413C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	606	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.R606C(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTTCCTGCAGCGCTGCCTTGC	0.642													C|||	6	0.00119808	0.0045	0	5008	,	,		20032	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6						C	CYS/ARG	9,3013		0,9,1502	68	57	61		1816	5.7	1	6	dbSNP_131	61	0,5416		0,0,2708	yes	missense	SKIV2L	NM_006929.4	180	0,9,4210	TT,TC,CC		0.0,0.2978,0.1067	probably-damaging	606/1247	31931858	9,8429	1511	2708	4219	32039837	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1816C>T	6.37:g.31931858C>T	ENSP00000364543:p.Arg606Cys		32039837	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	16.07	3.019801	0.54576	0.002978	0.0	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.51071	0.85;0.72	5.69	5.69	0.88448	Helicase, C-terminal (1);	0.057657	0.64402	D	0.000002	T	0.43233	0.1238	L	0.53617	1.68	0.50313	D	0.999862	D	0.76494	0.999	P	0.51229	0.663	T	0.49011	-0.8983	10	0.87932	D	0	-18.7042	12.1152	0.53861	0.2745:0.7255:0.0:0.0	.	606	Q15477	SKIV2_HUMAN	C	606;448;413	ENSP00000364543:R606C;ENSP00000442645:R413C	ENSP00000364543:R606C	R	+	1	0	SKIV2L	32039837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.360000	0.52299	2.676000	0.91093	0.655000	0.94253	CGC		0.642	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			T	31931858	C	T	31931858	3	4	223	1	0	0	0	0	1	0	0	0	14362	768	27	1	1878	1	SKIV2L	6	31931858	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09		31931858	139183209	33	12708											
TRMT11	60487	genome.wustl.edu	37	6	126317171	126317171	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr6:126317171G>T	ENST00000334379.5	+	3	318	c.197G>T	c.(196-198)cGg>cTg	p.R66L	TRMT11_ENST00000489934.1_3'UTR|TRMT11_ENST00000450358.1_Missense_Mutation_p.R66L|TRMT11_ENST00000368332.3_Missense_Mutation_p.R66L	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	66					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.R66L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TTGATGAAACGGACAGTGTGT	0.363											OREG0017650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	6											150	132	138					6																	126317171		2203	4300	6503	126358864	SO:0001583	missense	60487			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.197G>T	6.37:g.126317171G>T	ENSP00000333934:p.Arg66Leu	1548	126358864	E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977274	0.92982	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	T;T;T	0.70045	-0.45;-0.38;-0.43	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88965	0.3396	10	0.87932	D	0	-3.7565	19.4836	0.95020	0.0:0.0:1.0:0.0	.	66;66	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	L	66;66;66;3;3	ENSP00000333934:R66L;ENSP00000405140:R66L;ENSP00000357316:R66L	ENSP00000333934:R66L	R	+	2	0	TRMT11	126358864	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.548000	0.90669	2.595000	0.87683	0.555000	0.69702	CGG		0.363	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		T	126317171	G	T	126317171	3	4	223	1	0	0	0	0	1	0	0	0	16562	1116	39	3	207	3	TRMT11	6	126317171	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	94385313	126317171	44797896	34	12709											
FBXO30	84085	genome.wustl.edu	37	6	146127275	146127275	+	Silent	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr6:146127275G>A	ENST00000237281.4	-	2	433	c.267C>T	c.(265-267)tgC>tgT	p.C89C		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	89							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C89C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCATAGTACAGCACACCACAC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	6											276	258	264					6																	146127275		2203	4300	6503	146168968	SO:0001819	synonymous_variant	84085			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.267C>T	6.37:g.146127275G>A			146168968	Q9BXZ7	Silent	SNP	ENST00000237281.4	37	CCDS5208.1																																																																																				0.423	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			A	146127275	G	A	146127275	2	1	223	1	0	0	0	0	0	0	0	1	5740	963	34	2		2	FBXO30	6	146127275	Silent	SNP	G	TCGA-24-1427-01A-01W-0549-09	19810104	146127275	24987792	35	12710											
SLC26A7	115111	genome.wustl.edu	37	8	92350462	92350462	+	Splice_Site	SNP	T	T	G			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr8:92350462T>G	ENST00000276609.3	+	7	1117		c.e7+2		SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.?(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCACAAGGGTAATGTAGTCC	0.328																																																1	Unknown(1)	ovary(1)	8											114	108	110					8																	92350462		2203	4299	6502	92419638	SO:0001630	splice_region_variant	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.878+2T>G	8.37:g.92350462T>G			92419638		Splice_Site	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951210	0.73787	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536;ENST00000520818	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5857	0.68322	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A7	92419638	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.140000	0.64807	2.177000	0.69029	0.528000	0.53228	.		0.328	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		Intron	G	92350462	T	G	92350462	5	3	223	1	0	0	0	0	0	0	1	0	14525	1652	57	5	902	5	SLC26A7	8	92350462	Splice_Site	SNP	T	TCGA-24-1427-01A-01W-0549-09		92350462	54013560	36	12711											
HAS2	3037	genome.wustl.edu	37	8	122640983	122640983	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr8:122640983C>T	ENST00000303924.4	-	2	1135	c.598G>A	c.(598-600)Gca>Aca	p.A200T		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	200					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.A200T(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTCCCAGTGCTCTGAAGGCT	0.438																																																1	Substitution - Missense(1)	ovary(1)	8											163	151	155					8																	122640983		2203	4300	6503	122710164	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.598G>A	8.37:g.122640983C>T	ENSP00000306991:p.Ala200Thr		122710164	Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144100	0.94603	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.61040	0.14	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77172	-0.2685	10	0.36615	T	0.2	-19.1185	20.5827	0.99408	0.0:1.0:0.0:0.0	.	200	Q92819	HAS2_HUMAN	T	200	ENSP00000306991:A200T	ENSP00000306991:A200T	A	-	1	0	HAS2	122710164	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.772000	0.85439	2.941000	0.99782	0.655000	0.94253	GCA		0.438	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		T	122640983	C	T	122640983	3	4	223	1	0	0	0	0	1	0	0	0	6962	797	28	2	1072	2	HAS2	8	122640983	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09	30290521	122640983	23723039	37	12712											
DFNB31	25861	genome.wustl.edu	37	9	117228648	117228648	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr9:117228648G>A	ENST00000362057.3	-	3	1030	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	288	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.R288W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAGGGACCGGCCGTCCCCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	9											68	70	69					9																	117228648		2203	4300	6503	116268469	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.862C>T	9.37:g.117228648G>A	ENSP00000354623:p.Arg288Trp		116268469	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888778	0.72524	.	.	ENSG00000095397	ENST00000362057	T	0.27890	1.64	5.01	3.98	0.46160	PDZ/DHR/GLGF (4);	0.100970	0.64402	D	0.000002	T	0.45115	0.1326	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.978	T	0.39121	-0.9629	10	0.72032	D	0.01	-26.4902	12.0802	0.53667	0.0:0.0:0.7299:0.2701	.	288;288	B9EGE6;Q9P202	.;WHRN_HUMAN	W	288	ENSP00000354623:R288W	ENSP00000354623:R288W	R	-	1	2	DFNB31	116268469	0.986000	0.35501	1.000000	0.80357	0.974000	0.67602	2.964000	0.49192	2.479000	0.83701	0.491000	0.48974	CGG		0.632	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		A	117228648	G	A	117228648	3	1	223	1	0	0	0	0	1	0	0	0	4455	1115	39	1	1901	1	DFNB31	9	117228648	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09		117228648	23984783	38	12713											
CYP2C19	1557	genome.wustl.edu	37	10	96535287	96535287	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr10:96535287A>C	ENST00000371321.3	+	3	554	c.472A>C	c.(472-474)Aaa>Caa	p.K158Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	158					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.K158Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GGAGTTGAGAAAAACCAAGGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	10											158	154	156					10																	96535287		2203	4300	6503	96525277	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.472A>C	10.37:g.96535287A>C	ENSP00000360372:p.Lys158Gln		96525277	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	A	7.631	0.678814	0.14841	.	.	ENSG00000165841	ENST00000371321	T	0.70164	-0.46	3.9	1.5	0.22942	.	0.699906	0.12222	U	0.488301	T	0.58424	0.2121	M	0.61387	1.9	0.09310	N	1	B	0.26081	0.141	B	0.26770	0.073	T	0.55842	-0.8077	10	0.72032	D	0.01	.	3.2988	0.06975	0.5562:0.2112:0.2327:0.0	.	158	P33261	CP2CJ_HUMAN	Q	158	ENSP00000360372:K158Q	ENSP00000360372:K158Q	K	+	1	0	CYP2C19	96525277	0.000000	0.05858	0.102000	0.21198	0.478000	0.33099	0.079000	0.14782	0.492000	0.27815	0.333000	0.21579	AAA		0.512	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		C	96535287	A	C	96535287	3	2	223	1	0	0	0	0	1	0	0	0	4166	15	1	5	482	5	CYP2C19	10	96535287	Missense_Mutation	SNP	A	TCGA-24-1427-01A-01W-0549-09		96535287	38999460	39	12714											
MUC5B	727897	genome.wustl.edu	37	11	1264295	1264295	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr11:1264295C>T	ENST00000529681.1	+	31	6243	c.6185C>T	c.(6184-6186)aCc>aTc	p.T2062I	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2065I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2062	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2065I(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTCACAGCCACCCCCTCCTCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	11											70	89	83					11																	1264295		2010	4175	6185	1220871	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6185C>T	11.37:g.1264295C>T	ENSP00000436812:p.Thr2062Ile		1220871	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	4.179	0.031847	0.08101	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.23950	1.88;2.1	1.96	1.96	0.26148	.	.	.	.	.	T	0.20210	0.0486	L	0.52126	1.63	0.09310	N	1	P;P	0.42692	0.649;0.787	B;B	0.33042	0.157;0.157	T	0.14035	-1.0487	9	0.87932	D	0	.	9.5388	0.39240	0.0:1.0:0.0:0.0	.	2755;2065	A7Y9J9;E9PBJ0	.;.	I	2062;2065;2063;2132	ENSP00000436812:T2062I;ENSP00000415793:T2065I	ENSP00000343037:T2063I	T	+	2	0	MUC5B	1220871	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	0.016000	0.13377	1.102000	0.41551	0.195000	0.17529	ACC		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1264295	C	T	1264295	3	4	223	1	0	0	0	0	1	0	0	0	9979	507	18	2	6316	2	MUC5B	11	1264295	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09		1264295	133742221	40	12715											
OR52A1	23538	genome.wustl.edu	37	11	5172994	5172994	+	Silent	SNP	A	A	G			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr11:5172994A>G	ENST00000380367.1	-	2	1023	c.606T>C	c.(604-606)ggT>ggC	p.G202G	OR52A1_ENST00000328942.1_Silent_p.G202G			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	202					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.G202G(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAAACAAACCATAGATTT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	11											163	156	158					11																	5172994		2201	4298	6499	5129570	SO:0001819	synonymous_variant	23538			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.606T>C	11.37:g.5172994A>G			5129570	Q6IF31	Silent	SNP	ENST00000380367.1	37	CCDS31374.1																																																																																				0.413	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		G	5172994	A	G	5172994	2	3	223	1	0	0	0	0	0	0	0	1	11108	30	2	4		4	OR52A1	11	5172994	Silent	SNP	A	TCGA-24-1427-01A-01W-0549-09	3908699	5172994	129833522	41	12716											
MARK2	2011	genome.wustl.edu	37	11	63667404	63667404	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr11:63667404G>A	ENST00000509502.2	+	8	954	c.491G>A	c.(490-492)aGc>aAc	p.S164N	MARK2_ENST00000508192.1_Missense_Mutation_p.S197N|MARK2_ENST00000377809.4_Missense_Mutation_p.S197N|MARK2_ENST00000350490.7_Missense_Mutation_p.S197N|MARK2_ENST00000315032.8_Missense_Mutation_p.S197N|MARK2_ENST00000502399.3_Missense_Mutation_p.S197N|MARK2_ENST00000361128.5_Missense_Mutation_p.S197N|MARK2_ENST00000413835.2_Missense_Mutation_p.S197N|MARK2_ENST00000513765.2_Missense_Mutation_p.S164N|MARK2_ENST00000377810.3_Missense_Mutation_p.S164N|MARK2_ENST00000425897.2_Missense_Mutation_p.S164N|MARK2_ENST00000408948.3_Missense_Mutation_p.S164N|MARK2_ENST00000402010.2_Missense_Mutation_p.S197N	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.S164N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTGGCTTCAGCAATGAATTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											157	151	153					11																	63667404		2201	4297	6498	63423980	SO:0001583	missense	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.491G>A	11.37:g.63667404G>A	ENSP00000423974:p.Ser164Asn		63423980		Missense_Mutation	SNP	ENST00000509502.2	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	34	5.327907	0.95733	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.49	5.49	0.81192	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	0.69097	0.3073	H	0.95187	3.635	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;1.0;1.0	D;D;D;D;D;D	0.87578	0.995;0.995;0.988;0.98;0.997;0.998	T	0.78324	-0.2248	10	0.87932	D	0	.	18.3171	0.90225	0.0:0.0:1.0:0.0	.	164;164;197;197;197;197	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	N	197;197;197;197;164;197;197;197;197;164;164;164;164	ENSP00000385751:S197N;ENSP00000326632:S197N;ENSP00000367040:S197N;ENSP00000389184:S197N;ENSP00000367041:S164N;ENSP00000425765:S197N;ENSP00000355091:S197N;ENSP00000294247:S197N;ENSP00000423974:S164N;ENSP00000421075:S164N;ENSP00000386128:S164N;ENSP00000415494:S164N	ENSP00000326632:S197N	S	+	2	0	MARK2	63423980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.654000	0.98509	2.858000	0.98145	0.651000	0.88453	AGC		0.488	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		A	63667404	G	A	63667404	3	1	223	1	0	0	0	0	1	0	0	0	9313	971	34	2	620	2	MARK2	11	63667404	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	58494410	63667404	71339112	42	12717											
APLP2	334	genome.wustl.edu	37	11	130010339	130010339	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr11:130010339G>T	ENST00000263574.5	+	15	1992	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	APLP2_ENST00000338167.5_Missense_Mutation_p.E628D|APLP2_ENST00000539648.1_Missense_Mutation_p.E428D|APLP2_ENST00000278756.7_Missense_Mutation_p.E638D|APLP2_ENST00000345598.5_Missense_Mutation_p.E399D|APLP2_ENST00000528499.1_Missense_Mutation_p.E572D|APLP2_ENST00000543137.1_Missense_Mutation_p.E535D	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	640					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.E640D(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GTGCCGAAGAGAAAGTGATTA	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											233	204	214					11																	130010339		2201	4297	6498	129515549	SO:0001583	missense	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1920G>T	11.37:g.130010339G>T	ENSP00000263574:p.Glu640Asp		129515549	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441554	0.63067	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.94330	-3.39;-3.27;-1.78;-3.4;-1.9;-1.91;-1.88	5.65	2.77	0.32553	.	0.199976	0.44483	D	0.000452	D	0.94371	0.8190	L	0.60455	1.87	0.46416	D	0.99903	D;P;B;P;D;P;P	0.69078	0.997;0.947;0.073;0.955;0.984;0.949;0.952	D;P;B;P;P;P;P	0.77557	0.99;0.638;0.034;0.546;0.632;0.496;0.496	D	0.91613	0.5304	9	.	.	.	-28.5706	6.9673	0.24629	0.3821:0.0:0.6179:0.0	.	428;640;584;399;566;572;628	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	D	572;428;640;399;628;638;535	ENSP00000435914:E572D;ENSP00000443728:E428D;ENSP00000263574:E640D;ENSP00000263575:E399D;ENSP00000345444:E628D;ENSP00000278756:E638D;ENSP00000444122:E535D	.	E	+	3	2	APLP2	129515549	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.636000	0.24644	0.319000	0.23209	-0.136000	0.14681	GAG		0.488	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		T	130010339	G	T	130010339	3	4	223	1	0	0	0	0	1	0	0	0	779	933	33	3	1978	3	APLP2	11	130010339	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	66342935	130010339	4996177	43	12718											
NDUFA9	4704	genome.wustl.edu	37	12	4763472	4763472	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr12:4763472G>T	ENST00000266544.5	+	2	84	c.64G>T	c.(64-66)Gca>Tca	p.A22S	NDUFA9_ENST00000542369.1_3'UTR|RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	22					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)	p.A22S(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TGCCATTACTGCAATAGCCAC	0.438																																					Colon(75;996 1244 23946 25294 29232)											1	Substitution - Missense(1)	ovary(1)	12											125	112	116					12																	4763472		2203	4300	6503	4633733	SO:0001583	missense	4704			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"Mitochondrial respiratory chain complex / Complex I", "Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	7693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 22E, member 1", "complex I 39kDa subunit"	603834	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.64G>T	12.37:g.4763472G>T	ENSP00000266544:p.Ala22Ser		4633733	Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575003	0.45902	.	.	ENSG00000139180	ENST00000266544;ENST00000535050	T	0.77358	-1.09	5.55	3.69	0.42338	.	0.520829	0.22144	N	0.064013	T	0.62648	0.2445	L	0.41710	1.295	0.23559	N	0.99742	B;B	0.18461	0.024;0.028	B;B	0.12156	0.007;0.007	T	0.43637	-0.9379	10	0.14252	T	0.57	-10.3882	4.7407	0.13012	0.0816:0.1491:0.6152:0.1541	.	22;22	A8K4V2;Q16795	.;NDUA9_HUMAN	S	22;44	ENSP00000266544:A22S	ENSP00000266544:A22S	A	+	1	0	NDUFA9	4633733	0.997000	0.39634	0.068000	0.19968	0.776000	0.43924	2.349000	0.44054	0.661000	0.30985	0.563000	0.77884	GCA		0.438	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		T	4763472	G	T	4763472	3	4	223	1	0	0	0	0	1	0	0	0	10272	1319	46	3	70	3	NDUFA9	12	4763472	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09		4763472	129088423	44	12719											
SLCO1B1	10599	genome.wustl.edu	37	12	21294579	21294579	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr12:21294579G>T	ENST00000256958.2	+	2	167	c.71G>T	c.(70-72)tGc>tTc	p.C24F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	24					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.C24F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ACAAGATACTGCAATGGATTG	0.279																																																1	Substitution - Missense(1)	ovary(1)	12											72	73	73					12																	21294579		2203	4295	6498	21185846	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.71G>T	12.37:g.21294579G>T	ENSP00000256958:p.Cys24Phe		21185846	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	.	4.991	0.184045	0.09495	.	.	ENSG00000134538	ENST00000256958	T	0.57595	0.39	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);	0.151849	0.43919	D	0.000517	T	0.44286	0.1286	M	0.62723	1.935	0.39010	D	0.959539	B	0.27765	0.188	B	0.22880	0.042	T	0.37731	-0.9693	10	0.15499	T	0.54	.	10.8585	0.46812	0.0:0.0:1.0:0.0	.	24	Q9Y6L6	SO1B1_HUMAN	F	24	ENSP00000256958:C24F	ENSP00000256958:C24F	C	+	2	0	SLCO1B1	21185846	0.510000	0.26171	0.897000	0.35233	0.005000	0.04900	3.719000	0.54926	2.255000	0.74692	0.650000	0.86243	TGC		0.279	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		T	21294579	G	T	21294579	3	4	223	1	0	0	0	0	1	0	0	0	14726	1319	46	3	73	3	SLCO1B1	12	21294579	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	16531107	21294579	112557316	45	12720											
BAZ2A	11176	genome.wustl.edu	37	12	57008850	57008850	+	Silent	SNP	T	T	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr12:57008850T>C	ENST00000551812.1	-	3	877	c.684A>G	c.(682-684)gcA>gcG	p.A228A	BAZ2A_ENST00000379441.3_Silent_p.A198A|BAZ2A_ENST00000179765.5_Silent_p.A196A|BAZ2A_ENST00000549884.1_Silent_p.A226A	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	228					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A228A(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGCCATTCTCTGCCACAACTG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	12											59	58	58					12																	57008850		2028	4196	6224	55295117	SO:0001819	synonymous_variant	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.684A>G	12.37:g.57008850T>C			55295117	B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	CCDS44924.1																																																																																				0.522	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		C	57008850	T	C	57008850	2	2	223	1	0	0	0	0	0	0	0	1	1331	1567	55	4		4	BAZ2A	12	57008850	Silent	SNP	T	TCGA-24-1427-01A-01W-0549-09	35714271	57008850	76843045	46	12721											
ERCC5	2073	genome.wustl.edu	37	13	103510653	103510653	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr13:103510653T>C	ENST00000355739.4	+	6	1980	c.557T>C	c.(556-558)aTa>aCa	p.I186T	ERCC5_ENST00000535557.1_Missense_Mutation_p.I186T|BIVM-ERCC5_ENST00000602836.1_Silent_p.D611D	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	186					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.I186T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCTCAAGCGATAGATATTGAG	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	1	Substitution - Missense(1)	ovary(1)	13											94	95	95					13																	103510653		2203	4300	6503	102308654	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.557T>C	13.37:g.103510653T>C	ENSP00000347978:p.Ile186Thr		102308654	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.166924	0.57476	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557;ENST00000375955	T;T	0.17854	2.25;2.25	5.31	5.31	0.75309	.	0.252736	0.41500	D	0.000871	T	0.32164	0.0820	M	0.73962	2.25	0.47737	D	0.999502	P;D;P	0.54964	0.956;0.969;0.829	P;P;B	0.50049	0.629;0.462;0.322	T	0.15206	-1.0445	10	0.72032	D	0.01	-9.7192	15.2802	0.73778	0.0:0.0:0.0:1.0	.	186;186;611	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	T	611;186;186;18	ENSP00000347978:I186T;ENSP00000442117:I186T	ENSP00000347978:I186T	I	+	2	0	ERCC5	102308654	1.000000	0.71417	0.817000	0.32601	0.935000	0.57460	7.384000	0.79751	2.000000	0.58554	0.533000	0.62120	ATA		0.363	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			C	103510653	T	C	103510653	3	2	223	1	0	0	0	0	1	0	0	0	5216	1406	49	4	579	4	ERCC5	13	103510653	Missense_Mutation	SNP	T	TCGA-24-1427-01A-01W-0549-09		103510653	11659225	47	12722											
RBBP6	5930	genome.wustl.edu	37	16	24560271	24560271	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr16:24560271G>A	ENST00000319715.4	+	3	704	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	RBBP6_ENST00000348022.2_Missense_Mutation_p.R91Q|RBBP6_ENST00000452655.2_Missense_Mutation_p.R91Q|RBBP6_ENST00000381039.3_Missense_Mutation_p.R91Q	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	91					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R91Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTTAGAAGTCGAACTGAACCA	0.269																																																1	Substitution - Missense(1)	ovary(1)	16											87	76	80					16																	24560271		2197	4297	6494	24467772	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.272G>A	16.37:g.24560271G>A	ENSP00000317872:p.Arg91Gln		24467772	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249550	0.80024	.	.	ENSG00000122257	ENST00000381039;ENST00000452655;ENST00000319715;ENST00000348022	T;T;T;T	0.44083	2.23;0.93;2.42;2.46	5.25	5.25	0.73442	.	0.257891	0.33092	N	0.005286	T	0.55097	0.1899	L	0.37630	1.12	0.51233	D	0.999915	D;D;D;D	0.89917	0.994;1.0;1.0;0.981	B;D;D;P	0.81914	0.436;0.995;0.988;0.565	T	0.43972	-0.9358	10	0.23891	T	0.37	-8.805	19.2086	0.93746	0.0:0.0:1.0:0.0	.	91;91;91;91	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9;Q7Z6E9-3	.;.;RBBP6_HUMAN;.	Q	91	ENSP00000370427:R91Q;ENSP00000390537:R91Q;ENSP00000317872:R91Q;ENSP00000316291:R91Q	ENSP00000317872:R91Q	R	+	2	0	RBBP6	24467772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.494000	0.81503	2.616000	0.88540	0.585000	0.79938	CGA		0.269	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		A	24560271	G	A	24560271	3	1	223	1	0	0	0	0	1	0	0	0	13106	1058	37	1	282	1	RBBP6	16	24560271	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09		24560271	65794482	48	12723											
OR1A1	8383	genome.wustl.edu	37	17	3119217	3119217	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr17:3119217G>A	ENST00000304094.1	+	1	303	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M101I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAACGCAGATGTATTTCATGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	17											121	105	110					17																	3119217		2203	4300	6503	3065967	SO:0001583	missense	8383			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.303G>A	17.37:g.3119217G>A	ENSP00000305207:p.Met101Ile		3065967	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161266	0.38119	.	.	ENSG00000172146	ENST00000304094	T	0.00305	8.18	4.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.095014	0.47455	D	0.000237	T	0.00144	0.0004	L	0.27053	0.805	0.35167	D	0.771183	B	0.26602	0.154	B	0.23419	0.046	T	0.67138	-0.5746	10	0.33940	T	0.23	.	9.1826	0.37152	0.0845:0.1484:0.7671:0.0	.	101	Q9P1Q5	OR1A1_HUMAN	I	101	ENSP00000305207:M101I	ENSP00000305207:M101I	M	+	3	0	OR1A1	3065967	0.961000	0.32948	1.000000	0.80357	0.814000	0.46013	0.777000	0.26718	2.584000	0.87258	0.436000	0.28706	ATG		0.478	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		A	3119217	G	A	3119217	3	1	223	1	0	0	0	0	1	0	0	0	10949	1377	48	2	305	2	OR1A1	17	3119217	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09		3119217	78075993	49	12724											
TP53	7157	genome.wustl.edu	37	17	7577124	7577124	+	Frame_Shift_Del	DEL	C	C	-	rs121912657		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	-	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr17:7577124delC	ENST00000269305.4	-	8	1003	c.814delG	c.(814-816)gtgfs	p.V272fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.V272fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V272fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V272fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.V272fs	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(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)	CAAACACGCACCTCAAAGCTG	0.527		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"	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	17	GRCh37	CM920676	TP53	M	rs121912657						62	54	57					17																	7577124		2203	4300	6503	7517849	SO:0001589	frameshift_variant	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.814delG	17.37:g.7577124delC	ENSP00000269305:p.Val272fs		7517849	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577124	C	-	7577124	7	5	223	1	0	1	0	1	0	0	0	0	16381	507	18	0	472	0	TP53	17	7577124	Frame_Shift_Del	DEL	C	TCGA-24-1427-01A-01W-0549-09	4457907	7577124	73618086	50	12725											
KIAA0100	9703	genome.wustl.edu	37	17	26966631	26966631	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr17:26966631G>A	ENST00000528896.2	-	10	1119	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R206C|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R206C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	349						extracellular region (GO:0005576)		p.R349C(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGACAATGCGTTGGCGACTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											143	126	131					17																	26966631		2203	4300	6503	23990758	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1045C>T	17.37:g.26966631G>A	ENSP00000436773:p.Arg349Cys		23990758	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185731	0.78789	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.34472	1.63;1.36	5.78	5.78	0.91487	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.48375	-0.9041	10	0.72032	D	0.01	.	14.8079	0.69971	0.0:0.0:0.8559:0.144	.	349;349	F6XS94;Q14667	.;K0100_HUMAN	C	349;349;349;206	ENSP00000436773:R349C;ENSP00000446443:R206C	ENSP00000005905:R349C	R	-	1	0	KIAA0100	23990758	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.629000	0.54266	2.733000	0.93635	0.591000	0.81541	CGC		0.498	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		A	26966631	G	A	26966631	3	1	223	1	0	0	0	0	1	0	0	0	8154	1145	40	1	5782	1	KIAA0100	17	26966631	Missense_Mutation	SNP	G	TCGA-24-1427-01A-01W-0549-09	19389507	26966631	54228579	51	12726											
SEC14L1	6397	genome.wustl.edu	37	17	75208031	75208032	+	Splice_Site	DNP	GA	GA	TT			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	GA	GA	GA	TT	GA	GA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr17:75208031_75208032GA>TT	ENST00000413679.2	+	15	1914_1915	c.1611_1612GA>TT	c.(1609-1614)gaGAtt>gaTTtt	p.537_538EI>DF	SEC14L1_ENST00000431431.2_Splice_Site_p.503_504EI>DF|SEC14L1_ENST00000436233.4_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000392476.2_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000585618.1_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000430767.4_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000443798.4_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000591437.1_Splice_Site_p.503_504EI>DF	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	537	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CTCTTTTTCAGATTCTCATTCA	0.55																																																0			17																																								72719627	SO:0001630	splice_region_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		Exception_encountered	17.37:g.75208031_75208032delinsTT			72719626	A8K4E8|B4DDI5|D5G3K1|Q99780	Splice_Site	DNP	ENST00000413679.2	37	CCDS11752.1																																																																																				0.55	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	Missense_Mutation	TT	75208032	GA	TT	75208031	5	4	223	1	0	0	0	0	0	0	1	0	13984	956	33	3	1661	3	SEC14L1	17	75208031	Splice_Site	DNP	GA	TCGA-24-1427-01A-01W-0549-09	48241400	75208031	5987179	52	12727											
SIGLEC8	27181	genome.wustl.edu	37	19	51955692	51955692	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr19:51955692C>A	ENST00000321424.3	-	7	1507	c.1441G>T	c.(1441-1443)Gca>Tca	p.A481S	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A388S|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.A372S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	481					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.A481S(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGAGTCTCTGCAGTTTCTCGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	19											130	119	123					19																	51955692		2203	4300	6503	56647504	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1441G>T	19.37:g.51955692C>A	ENSP00000321077:p.Ala481Ser		56647504	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.75	2.032462	0.35893	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.64803	1.19;-0.12;0.96	1.31	0.236	0.15471	.	.	.	.	.	T	0.36880	0.0983	N	0.08118	0	0.09310	N	1	P;P;P	0.52061	0.917;0.95;0.917	B;B;B	0.42495	0.218;0.389;0.218	T	0.27971	-1.0058	9	0.87932	D	0	.	3.3711	0.07222	0.0:0.7184:0.0:0.2816	.	372;388;481	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	S	372;481;388	ENSP00000389142:A372S;ENSP00000321077:A481S;ENSP00000339448:A388S	ENSP00000321077:A481S	A	-	1	0	SIGLEC8	56647504	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-2.042000	0.01414	0.120000	0.18254	0.502000	0.49764	GCA		0.517	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		A	51955692	C	A	51955692	3	1	223	1	0	0	0	0	1	0	0	0	14317	710	25	3	62	3	SIGLEC8	19	51955692	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09		51955692	7173291	53	12728											
SYCP2	10388	genome.wustl.edu	37	20	58455357	58455357	+	Splice_Site	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr20:58455357C>T	ENST00000357552.3	-	31	3167		c.e31+1		SYCP2_ENST00000371001.2_Splice_Site			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.?(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TAATTTCTTACTTGATTTTCC	0.274																																																1	Unknown(1)	ovary(1)	20											99	99	99					20																	58455357		2186	4294	6480	57888752	SO:0001630	splice_region_variant	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2941+1G>A	20.37:g.58455357C>T			57888752	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454481	0.63290	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4437	0.87573	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYCP2	57888752	1.000000	0.71417	0.990000	0.47175	0.755000	0.42902	3.255000	0.51484	2.859000	0.98148	0.591000	0.81541	.		0.274	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	Intron	T	58455357	C	T	58455357	5	4	223	1	0	0	0	0	0	0	1	0	15432	579	20	2	1710	2	SYCP2	20	58455357	Splice_Site	SNP	C	TCGA-24-1427-01A-01W-0549-09		58455357	4570163	54	12729											
POTED	317754	genome.wustl.edu	37	21	14992565	14992565	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr21:14992565A>G	ENST00000299443.5	+	5	1056	c.1004A>G	c.(1003-1005)gAt>gGt	p.D335G	RNU6-286P_ENST00000384745.1_RNA	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	335						plasma membrane (GO:0005886)		p.D335G(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TCTTCTCAAGATCTATCTGGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	21											1	1	1					21																	14992565		1	6	7	13914436	SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1004A>G	21.37:g.14992565A>G	ENSP00000299443:p.Asp335Gly		13914436	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.234877	0.22626	.	.	ENSG00000166351	ENST00000299443	T	0.59906	0.23	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.36932	U	0.002332	T	0.66076	0.2753	M	0.80028	2.48	0.09310	N	1	P	0.47677	0.899	P	0.57502	0.822	T	0.56032	-0.8046	10	0.72032	D	0.01	.	4.0975	0.09998	1.0:0.0:0.0:0.0	.	335	Q86YR6	POTED_HUMAN	G	335	ENSP00000299443:D335G	ENSP00000299443:D335G	D	+	2	0	POTED	13914436	0.998000	0.40836	0.010000	0.14722	0.023000	0.10783	3.339000	0.52135	0.662000	0.31006	0.155000	0.16302	GAT		0.368	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		G	14992565	A	G	14992565	3	3	223	1	0	0	0	0	1	0	0	0	12263	333	12	4	1022	4	POTED	21	14992565	Missense_Mutation	SNP	A	TCGA-24-1427-01A-01W-0549-09		14992565	33137330	55	12730											
CXADR	1525	genome.wustl.edu	37	21	18924200	18924200	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr21:18924200T>A	ENST00000284878.7	+	3	1092	c.344T>A	c.(343-345)aTt>aAt	p.I115N	CXADR_ENST00000400169.1_Missense_Mutation_p.I115N|CXADR_ENST00000400165.1_Missense_Mutation_p.I115N|CXADR_ENST00000306618.10_Missense_Mutation_p.I115N|CXADR_ENST00000400166.1_Missense_Mutation_p.I115N|CXADR_ENST00000356275.6_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	115	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)	p.I115N(1)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CTGTCAGATATTGGCACATAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	21											89	90	90					21																	18924200		2203	4299	6502	17846071	SO:0001583	missense	1525			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.344T>A	21.37:g.18924200T>A	ENSP00000284878:p.Ile115Asn		17846071	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293550	0.23564	.	.	ENSG00000154639	ENST00000284878;ENST00000400166;ENST00000400169;ENST00000400165;ENST00000306618	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.04	3.87	0.44632	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.331011	0.36134	N	0.002763	T	0.37404	0.1002	N	0.03324	-0.35	0.35004	D	0.756212	D;P;P;P	0.59767	0.986;0.924;0.617;0.938	P;B;B;P	0.50934	0.654;0.42;0.315;0.554	T	0.45702	-0.9243	10	0.14252	T	0.57	.	2.1016	0.03681	0.1613:0.09:0.1681:0.5806	.	115;115;115;115	P78310-4;B7WPI3;P78310;P78310-5	.;.;CXAR_HUMAN;.	N	115	ENSP00000284878:I115N;ENSP00000383030:I115N;ENSP00000383033:I115N;ENSP00000383029:I115N;ENSP00000303395:I115N	ENSP00000284878:I115N	I	+	2	0	CXADR	17846071	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	4.355000	0.59424	0.974000	0.38366	0.533000	0.62120	ATT		0.358	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			A	18924200	T	A	18924200	3	1	223	1	0	0	0	0	1	0	0	0	4076	1493	52	5	354	5	CXADR	21	18924200	Missense_Mutation	SNP	T	TCGA-24-1427-01A-01W-0549-09	3931635	18924200	29205695	56	12731											
TRIOBP	11078	genome.wustl.edu	37	22	38121683	38121683	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr22:38121683C>A	ENST00000406386.3	+	7	3375	c.3120C>A	c.(3118-3120)ttC>ttA	p.F1040L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1040					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.F1040L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTTCCCCTTCTTCCCAGAGC	0.657																																																1	Substitution - Missense(1)	ovary(1)	22											72	81	78					22																	38121683		1942	4117	6059	36451629	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3120C>A	22.37:g.38121683C>A	ENSP00000384312:p.Phe1040Leu		36451629	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272287	0.59649	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.34072	1.38	4.86	2.74	0.32292	.	.	.	.	.	T	0.38214	0.1032	L	0.36672	1.1	0.80722	D	1	D	0.61080	0.989	P	0.55391	0.775	T	0.11446	-1.0587	9	0.54805	T	0.06	.	7.7211	0.28733	0.0:0.8099:0.0:0.1901	.	1040	Q9H2D6	TARA_HUMAN	L	1040	ENSP00000384312:F1040L	ENSP00000384312:F1040L	F	+	3	2	TRIOBP	36451629	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	0.600000	0.24104	0.642000	0.30620	0.456000	0.33151	TTC		0.657	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38121683	C	A	38121683	3	1	223	1	0	0	0	0	1	0	0	0	16553	912	32	3	3138	3	TRIOBP	22	38121683	Missense_Mutation	SNP	C	TCGA-24-1427-01A-01W-0549-09		38121683	13182883	57	12732											
OVGP1	5016	genome.wustl.edu	37	1	111957639	111957639	+	Missense_Mutation	SNP	G	G	A	rs201456864	byFrequency	TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr1:111957639G>A	ENST00000369732.3	-	11	1539	c.1484C>T	c.(1483-1485)aCc>aTc	p.T495I		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	495					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T495I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ACCCACAGGGGTCAGGGCCTT	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											92	80	84					1																	111957639		2203	4300	6503	111759162	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1484C>T	1.37:g.111957639G>A	ENSP00000358747:p.Thr495Ile		111759162	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	8.557	0.876975	0.17395	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.03951	3.75	2.95	-2.33	0.06724	.	.	.	.	.	T	0.01156	0.0038	L	0.42245	1.32	0.09310	N	1	B;B	0.25667	0.012;0.131	B;B	0.26517	0.004;0.07	T	0.47169	-0.9138	9	0.21540	T	0.41	.	4.3231	0.11027	0.1289:0.0:0.2983:0.5728	.	495;559	Q12889;Q59HH5	OVGP1_HUMAN;.	I	495;559;303	ENSP00000358747:T495I	ENSP00000358743:T559I	T	-	2	0	OVGP1	111759162	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.217000	0.10033	-2.112000	0.00353	ACC		0.552	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		A	111957639	G	A	111957639	3	1	224	1	0	0	0	0	1	0	0	0	11325	1261	44	2	556	2	OVGP1	1	111957639	Missense_Mutation	SNP	G	TCGA-24-1428-01A-01W-0549-09		111957639	137292982	1	12733											
ATIC	471	genome.wustl.edu	37	2	216203553	216203553	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr2:216203553C>T	ENST00000236959.9	+	12	1476	c.1150C>T	c.(1150-1152)Ctt>Ttt	p.L384F	ATIC_ENST00000435675.1_Missense_Mutation_p.L383F|ATIC_ENST00000540518.1_Missense_Mutation_p.L325F	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	384					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.L384F(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TCTCTTTGGTCTTCATTTAAG	0.328			T	ALK	ALCL																																		Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	1	Substitution - Missense(1)	ovary(1)	2											84	86	85					2																	216203553		2203	4300	6503	215911798	SO:0001583	missense	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1150C>T	2.37:g.216203553C>T	ENSP00000236959:p.Leu384Phe		215911798	A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.59|19.59	3.857011|3.857011	0.71834|0.71834	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675|ENST00000446622;ENST00000426233	T;T;T|.	0.77489|.	-1.1;-1.1;-1.1|.	6.06|6.06	5.02|5.02	0.67125|0.67125	AICAR transformylase domain (1);Cytidine deaminase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77772|0.77772	0.4180|0.4180	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.70935|.	0.971;0.971|.	T|T	0.79259|0.79259	-0.1877|-0.1877	10|5	0.51188|.	T|.	0.08|.	-20.3005|-20.3005	13.4663|13.4663	0.61256|0.61256	0.0:0.8685:0.0:0.1315|0.0:0.8685:0.0:0.1315	.|.	383;384|.	E9PBU3;P31939|.	.;PUR9_HUMAN|.	F|F	384;325;383|77;52	ENSP00000236959:L384F;ENSP00000440523:L325F;ENSP00000415935:L383F|.	ENSP00000236959:L384F|.	L|S	+|+	1|2	0|0	ATIC|ATIC	215911798|215911798	0.781000|0.781000	0.28676|0.28676	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	1.338000|1.338000	0.33873|0.33873	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.328	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		T	216203553	C	T	216203553	3	4	224	1	0	0	0	0	1	0	0	0	1105	913	32	2	1196	2	ATIC	2	216203553	Missense_Mutation	SNP	C	TCGA-24-1428-01A-01W-0549-09		216203553	26995820	2	12734											
ERC2	26059	genome.wustl.edu	37	3	56026090	56026090	+	Silent	SNP	C	C	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr3:56026090C>G	ENST00000288221.6	-	11	2505	c.2250G>C	c.(2248-2250)ctG>ctC	p.L750L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	750						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.L750L(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTTACCTCTCCAGTTCTGCGA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	3											166	169	168					3																	56026090		1950	4139	6089	56001130	SO:0001819	synonymous_variant	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2250G>C	3.37:g.56026090C>G			56001130	Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	1.878	-0.458648	0.04508	.	.	ENSG00000187672	ENST00000492584	.	.	.	5.79	-5.59	0.02505	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39643	-0.9604	4	.	.	.	-6.2054	0.5712	0.00696	0.3175:0.2802:0.1907:0.2117	.	.	.	.	S	401	.	.	W	-	2	0	ERC2	56001130	0.988000	0.35896	0.965000	0.40720	0.649000	0.38597	0.290000	0.18975	-0.882000	0.03987	-0.897000	0.02905	TGG		0.483	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		G	56026090	C	G	56026090	2	3	224	1	0	0	0	0	0	0	0	1	5211	581	21	3		3	ERC2	3	56026090	Silent	SNP	C	TCGA-24-1428-01A-01W-0549-09		56026090	141996340	3	12735											
CEP97	79598	genome.wustl.edu	37	3	101474383	101474383	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr3:101474383C>G	ENST00000341893.3	+	7	1590	c.838C>G	c.(838-840)Cta>Gta	p.L280V	CEP97_ENST00000494050.1_Missense_Mutation_p.L280V|CEP97_ENST00000327230.4_Missense_Mutation_p.L280V			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	280					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.L280V(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CACTTCTACACTAGGTCTTCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											114	106	109					3																	101474383		2203	4300	6503	102957073	SO:0001583	missense	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.838C>G	3.37:g.101474383C>G	ENSP00000342510:p.Leu280Val		102957073	B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454118	0.26161	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.52057	0.72;0.68;0.73	5.91	2.02	0.26589	.	0.442134	0.22887	N	0.054424	T	0.23532	0.0569	N	0.08118	0	0.19300	N	0.999976	B;B;B	0.25351	0.039;0.124;0.081	B;B;B	0.25506	0.025;0.061;0.021	T	0.17048	-1.0382	10	0.25106	T	0.35	0.3703	7.4482	0.27223	0.0:0.4712:0.3622:0.1667	.	280;280;280	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	V	280	ENSP00000342510:L280V;ENSP00000325881:L280V;ENSP00000418185:L280V	ENSP00000325881:L280V	L	+	1	2	CEP97	102957073	0.918000	0.31147	0.157000	0.22605	0.924000	0.55760	1.860000	0.39428	0.093000	0.17368	0.460000	0.39030	CTA		0.448	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		G	101474383	C	G	101474383	3	3	224	1	0	0	0	0	1	0	0	0	3263	564	20	3	864	3	CEP97	3	101474383	Missense_Mutation	SNP	C	TCGA-24-1428-01A-01W-0549-09	45448293	101474383	96548047	4	12736											
CDH12	1010	genome.wustl.edu	37	5	21975435	21975435	+	Silent	SNP	G	G	A	rs111835226		TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr5:21975435G>A	ENST00000382254.1	-	6	1377	c.291C>T	c.(289-291)ggC>ggT	p.G97G	CDH12_ENST00000504376.2_Silent_p.G97G|CDH12_ENST00000522262.1_Silent_p.G97G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G97G(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CGGTGCCAGCGCCATCTCCTG	0.478										HNSCC(59;0.17)																																						1	Substitution - coding silent(1)	ovary(1)	5											61	62	61					5																	21975435		2041	3872	5913	22011192	SO:0001819	synonymous_variant	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.291C>T	5.37:g.21975435G>A			22011192	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	CCDS3890.1																																																																																				0.478	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		A	21975435	G	A	21975435	2	1	224	1	0	0	0	0	0	0	0	1	3098	1074	38	1		1	CDH12	5	21975435	Silent	SNP	G	TCGA-24-1428-01A-01W-0549-09		21975435	158939825	5	12737											
STK10	6793	genome.wustl.edu	37	5	171583695	171583695	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr5:171583695A>G	ENST00000176763.5	-	2	597	c.254T>C	c.(253-255)cTg>cCg	p.L85P		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.L85P(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGGTGGCCAGGATCTCAAT	0.577																																																1	Substitution - Missense(1)	ovary(1)	5											200	140	161					5																	171583695		2203	4300	6503	171516300	SO:0001583	missense	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.254T>C	5.37:g.171583695A>G	ENSP00000176763:p.Leu85Pro		171516300	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470180	0.84533	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.71817	-0.6	5.53	5.53	0.82687	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	0.64402	D	0.000007	D	0.89399	0.6704	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92717	0.6188	10	0.87932	D	0	.	13.6091	0.62065	1.0:0.0:0.0:0.0	.	85	O94804	STK10_HUMAN	P	85	ENSP00000176763:L85P	ENSP00000176763:L85P	L	-	2	0	STK10	171516300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.299000	0.96137	2.092000	0.63282	0.459000	0.35465	CTG		0.577	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		G	171583695	A	G	171583695	3	3	224	1	0	0	0	0	1	0	0	0	15288	188	7	4	2724	4	STK10	5	171583695	Missense_Mutation	SNP	A	TCGA-24-1428-01A-01W-0549-09	149608260	171583695	9331565	6	12738											
EPHA7	2045	genome.wustl.edu	37	6	94120755	94120755	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr6:94120755A>G	ENST00000369303.4	-	3	480	c.296T>C	c.(295-297)tTt>tCt	p.F99S	EPHA7_ENST00000369297.1_Missense_Mutation_p.F99S	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	99	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.F99S(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAATTCTACAAAAATCCTTTG	0.423																																																1	Substitution - Missense(1)	ovary(1)	6											108	111	110					6																	94120755		2203	4299	6502	94177476	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.296T>C	6.37:g.94120755A>G	ENSP00000358309:p.Phe99Ser		94177476	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952034	0.73787	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.03635	3.86;3.86	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	M	0.62723	1.935	0.80722	D	1	P;D;D;D	0.89917	0.718;1.0;1.0;1.0	B;D;D;D	0.97110	0.349;1.0;0.999;1.0	T	0.01280	-1.1397	10	0.66056	D	0.02	.	15.9043	0.79412	1.0:0.0:0.0:0.0	.	99;99;99;99	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	S	99	ENSP00000358309:F99S;ENSP00000358303:F99S	ENSP00000358303:F99S	F	-	2	0	EPHA7	94177476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.046000	0.71029	2.219000	0.72066	0.533000	0.62120	TTT		0.423	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			G	94120755	A	G	94120755	3	3	224	1	0	0	0	0	1	0	0	0	5172	14	1	4	2760	4	EPHA7	6	94120755	Missense_Mutation	SNP	A	TCGA-24-1428-01A-01W-0549-09		94120755	76994312	7	12739											
SEMA4D	10507	genome.wustl.edu	37	9	92003959	92003959	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr9:92003959C>T	ENST00000450295.1	-	10	1554	c.778G>A	c.(778-780)Gac>Aac	p.D260N	SEMA4D_ENST00000343780.4_Missense_Mutation_p.D260N|SEMA4D_ENST00000356444.2_Missense_Mutation_p.D260N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.D260N|SEMA4D_ENST00000420987.1_Missense_Mutation_p.D260N|SEMA4D_ENST00000422704.2_Missense_Mutation_p.D260N|SEMA4D_ENST00000339861.4_Missense_Mutation_p.D260N|SEMA4D_ENST00000455551.2_Missense_Mutation_p.D260N			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	260	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.D260N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCGCCCTGGTCCCCCTAAAAC	0.602																																																1	Substitution - Missense(1)	ovary(1)	9											91	98	96					9																	92003959		2203	4300	6503	91193779	SO:0001583	missense	10507			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.778G>A	9.37:g.92003959C>T	ENSP00000416523:p.Asp260Asn		91193779	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392558	0.96009	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	H	0.95712	3.71	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90114	0.4194	10	0.87932	D	0	.	18.396	0.90499	0.0:1.0:0.0:0.0	.	260;260	Q92854-2;Q92854	.;SEM4D_HUMAN	N	260	ENSP00000344923:D260N;ENSP00000391733:D260N;ENSP00000411981:D260N;ENSP00000343418:D260N;ENSP00000416523:D260N;ENSP00000405102:D260N;ENSP00000348822:D260N;ENSP00000388768:D260N	ENSP00000344923:D260N	D	-	1	0	SEMA4D	91193779	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.314000	0.78988	2.564000	0.86499	0.561000	0.74099	GAC		0.602	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		T	92003959	C	T	92003959	3	4	224	1	0	0	0	0	1	0	0	0	14037	855	30	2	2408	2	SEMA4D	9	92003959	Missense_Mutation	SNP	C	TCGA-24-1428-01A-01W-0549-09		92003959	49209472	8	12740											
NRAP	4892	genome.wustl.edu	37	10	115412757	115412757	+	Missense_Mutation	SNP	G	G	T	rs138386465		TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr10:115412757G>T	ENST00000359988.3	-	6	751	c.507C>A	c.(505-507)agC>agA	p.S169R	NRAP_ENST00000360478.3_Missense_Mutation_p.S169R|NRAP_ENST00000369360.3_Missense_Mutation_p.S169R|NRAP_ENST00000369358.4_Missense_Mutation_p.S169R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.S169R(1)|p.S169S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGCTGGAAAGCTCCCCTTGC	0.473																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	10						G	ARG/SER,ARG/SER	2,4404	4.2+/-10.8	0,2,2201	179	155	163		507,507	-0.8	1	10	dbSNP_134	163	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	NRAP	NM_006175.3,NM_198060.2	110,110	0,6,6497	TT,TG,GG		0.0465,0.0454,0.0461	probably-damaging,probably-damaging	169/1696,169/1731	115412757	6,13000	2203	4300	6503	115402747	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.507C>A	10.37:g.115412757G>T	ENSP00000353078:p.Ser169Arg		115402747		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534967	0.45073	4.54E-4	4.65E-4	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.18016	2.43;2.43;2.33;2.24	5.92	-0.802	0.10889	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	L	0.55481	1.735	0.40869	D	0.983899	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.87578	0.998;0.984;0.986	T	0.02167	-1.1202	10	0.25751	T	0.34	.	12.2823	0.54771	0.3779:0.0:0.6221:0.0	.	169;169;169	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	R	169	ENSP00000358365:S169R;ENSP00000358367:S169R;ENSP00000353078:S169R;ENSP00000353666:S169R	ENSP00000353078:S169R	S	-	3	2	NRAP	115402747	1.000000	0.71417	0.995000	0.50966	0.837000	0.47467	1.591000	0.36665	-0.050000	0.13356	-0.808000	0.03180	AGC		0.473	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		T	115412757	G	T	115412757	3	4	224	1	0	0	0	0	1	0	0	0	10638	962	34	3	4833	3	NRAP	10	115412757	Missense_Mutation	SNP	G	TCGA-24-1428-01A-01W-0549-09		115412757	20121990	9	12741											
OR5R1	219479	genome.wustl.edu	37	11	56184844	56184844	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr11:56184844T>A	ENST00000312253.1	-	1	864	c.865A>T	c.(865-867)Atc>Ttc	p.I289F		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I289F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGACTATAGATTAGGGGGTTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11											121	121	121					11																	56184844		2201	4296	6497	55941420	SO:0001583	missense	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.865A>T	11.37:g.56184844T>A	ENSP00000308595:p.Ile289Phe		55941420		Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261503	0.39995	.	.	ENSG00000174942	ENST00000312253	T	0.57107	0.42	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31847	U	0.006971	T	0.61837	0.2379	L	0.39245	1.2	0.34503	D	0.706214	D	0.89917	1.0	D	0.91635	0.999	T	0.72969	-0.4130	10	0.87932	D	0	-18.6637	9.6065	0.39637	0.0:0.0795:0.0:0.9205	.	289	Q8NH85	OR5R1_HUMAN	F	289	ENSP00000308595:I289F	ENSP00000308595:I289F	I	-	1	0	OR5R1	55941420	1.000000	0.71417	0.854000	0.33618	0.015000	0.08874	3.845000	0.55880	2.040000	0.60383	0.450000	0.29827	ATC		0.358	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		A	56184844	T	A	56184844	3	1	224	1	0	0	0	0	1	0	0	0	11180	1493	52	5	111	5	OR5R1	11	56184844	Missense_Mutation	SNP	T	TCGA-24-1428-01A-01W-0549-09		56184844	78821672	10	12742											
MS4A10	341116	genome.wustl.edu	37	11	60559755	60559755	+	Silent	SNP	C	C	A			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr11:60559755C>A	ENST00000308287.1	+	4	417	c.321C>A	c.(319-321)atC>atA	p.I107I		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	107						integral component of membrane (GO:0016021)		p.I107I(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TTTCAGGGATCTTGGCGATAA	0.458																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	11											189	172	178					11																	60559755		2203	4300	6503	60316331	SO:0001819	synonymous_variant	341116			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.321C>A	11.37:g.60559755C>A			60316331	B2RP45|Q96PG3	Silent	SNP	ENST00000308287.1	37	CCDS7992.1																																																																																				0.458	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893		A	60559755	C	A	60559755	2	1	224	1	0	0	0	0	0	0	0	1	9855	903	32	3		3	MS4A10	11	60559755	Silent	SNP	C	TCGA-24-1428-01A-01W-0549-09	4374911	60559755	74446761	11	12743											
PRKRIR	5612	genome.wustl.edu	37	11	76061964	76061964	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr11:76061964A>G	ENST00000260045.3	-	5	2335	c.2230T>C	c.(2230-2232)Tat>Cat	p.Y744H	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	744					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y744H(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTACTTGTATAGAGTTTAATA	0.323																																																1	Substitution - Missense(1)	ovary(1)	11											16	15	16					11																	76061964		2089	4203	6292	75739612	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.2230T>C	11.37:g.76061964A>G	ENSP00000260045:p.Tyr744His		75739612	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772600	0.69992	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.29908	0.895	0.58432	D	0.999992	P	0.47106	0.89	B	0.43623	0.425	T	0.26608	-1.0098	9	0.18710	T	0.47	.	16.3639	0.83307	1.0:0.0:0.0:0.0	.	744	O43422	P52K_HUMAN	H	569;744	.	ENSP00000260045:Y744H	Y	-	1	0	PRKRIR	75739612	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.726000	0.74758	2.326000	0.78906	0.524000	0.50904	TAT		0.323	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		G	76061964	A	G	76061964	3	3	224	1	0	0	0	0	1	0	0	0	12529	420	15	4	59	4	PRKRIR	11	76061964	Missense_Mutation	SNP	A	TCGA-24-1428-01A-01W-0549-09	15502209	76061964	58944552	12	12744											
GEMIN4	50628	genome.wustl.edu	37	17	649180	649180	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr17:649180C>G	ENST00000319004.5	-	2	2221	c.2103G>C	c.(2101-2103)ttG>ttC	p.L701F	GEMIN4_ENST00000576778.1_Missense_Mutation_p.L690F	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	701					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.L701F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGAGCTGGCACAAGCTGAAGA	0.547																																																1	Substitution - Missense(1)	ovary(1)	17											29	31	31					17																	649180		1951	4146	6097	595930	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2103G>C	17.37:g.649180C>G	ENSP00000321706:p.Leu701Phe		595930	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148430	0.37923	.	.	ENSG00000179409	ENST00000319004	T	0.20069	2.1	5.56	4.58	0.56647	.	0.000000	0.64402	D	0.000001	T	0.40015	0.1100	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27226	-1.0080	10	0.87932	D	0	-10.4355	6.629	0.22847	0.0:0.6811:0.1587:0.1602	.	701	P57678	GEMI4_HUMAN	F	701	ENSP00000321706:L701F	ENSP00000321706:L701F	L	-	3	2	GEMIN4	595930	0.856000	0.29760	0.999000	0.59377	0.571000	0.35966	-0.104000	0.10923	1.335000	0.45486	0.650000	0.86243	TTG		0.547	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		G	649180	C	G	649180	3	3	224	1	0	0	0	0	1	0	0	0	6330	477	17	3	1077	3	GEMIN4	17	649180	Missense_Mutation	SNP	C	TCGA-24-1428-01A-01W-0549-09		649180	80546030	13	12745											
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr17:7578265A>T	ENST00000269305.4	-	6	773	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_ENST00000445888.2_Missense_Mutation_p.I195N|TP53_ENST00000455263.2_Missense_Mutation_p.I195N|TP53_ENST00000413465.2_Missense_Mutation_p.I195N|TP53_ENST00000420246.2_Missense_Mutation_p.I195N|TP53_ENST00000359597.4_Missense_Mutation_p.I195N|TP53_ENST00000574684.1_Intron	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>A	17.37:g.7578265A>T	ENSP00000269305:p.Ile195Asn		7518990	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	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474490	0.43942	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.994;0.996;0.998;0.998;0.998	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195N;ENSP00000352610:I195N;ENSP00000269305:I195N;ENSP00000398846:I195N;ENSP00000391127:I195N;ENSP00000391478:I195N;ENSP00000425104:I63N;ENSP00000423862:I102N	ENSP00000269305:I195N	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578265	A	T	7578265	3	4	224	1	0	0	0	0	1	0	0	0	16381	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-24-1428-01A-01W-0549-09	6929085	7578265	73616945	14	12746											
CYB561	1534	genome.wustl.edu	37	17	61514835	61514835	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	C	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr17:61514835A>C	ENST00000392976.1	-	2	373	c.74T>G	c.(73-75)cTg>cGg	p.L25R	CYB561_ENST00000582997.1_Missense_Mutation_p.L32R|CYB561_ENST00000360793.3_Missense_Mutation_p.L25R|CYB561_ENST00000448884.2_Missense_Mutation_p.L25R|CYB561_ENST00000581163.1_5'Flank|CYB561_ENST00000582034.1_5'UTR|CYB561_ENST00000581573.1_Missense_Mutation_p.L25R|CYB561_ENST00000542042.1_Missense_Mutation_p.L92R|CYB561_ENST00000584031.1_Missense_Mutation_p.L25R|CYB561_ENST00000582297.1_Missense_Mutation_p.L25R|CYB561_ENST00000392975.2_Missense_Mutation_p.L25R	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	25	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)	p.L25R(1)		lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CACCAAGGTCAGGCCCAGCAG	0.672																																																1	Substitution - Missense(1)	ovary(1)	17											56	52	53					17																	61514835		2203	4299	6502	58868567	SO:0001583	missense	1534				CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"Cytochrome b genes"	2571	protein-coding gene	gene with protein product	"ferric-chelate reductase 2", "cytochrome b561 family, member A1"	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.74T>G	17.37:g.61514835A>C	ENSP00000376702:p.Leu25Arg		58868567	B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	CCDS11636.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377018	0.42105	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042	T;T;T;T	0.68479	-0.3;-0.3;-0.3;-0.33	4.16	4.16	0.48862	Cytochrome b561/ferric reductase transmembrane (1);	0.085410	0.50627	D	0.000107	D	0.82323	0.5012	M	0.87617	2.895	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.73708	0.979;0.981;0.974;0.971	D	0.85497	0.1189	10	0.72032	D	0.01	-13.2917	12.5503	0.56223	1.0:0.0:0.0:0.0	.	25;25;92;25	B7Z775;B3KTA1;F5H757;P49447	.;.;.;CY561_HUMAN	R	25;25;25;25;92	ENSP00000354028:L25R;ENSP00000376702:L25R;ENSP00000376701:L25R;ENSP00000442773:L92R	ENSP00000354028:L25R	L	-	2	0	CYB561	58868567	1.000000	0.71417	0.938000	0.37757	0.986000	0.74619	8.413000	0.90235	1.763000	0.52060	0.459000	0.35465	CTG		0.672	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		C	61514835	A	C	61514835	3	2	224	1	0	0	0	0	1	0	0	0	4119	188	7	5	701	5	CYB561	17	61514835	Missense_Mutation	SNP	A	TCGA-24-1428-01A-01W-0549-09	53936570	61514835	19680375	15	12747											
TCEB3	6924	broad.mit.edu	37	1	24077510	24077510	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr1:24077510C>A	ENST00000418390.2	+	4	764	c.493C>A	c.(493-495)Ctc>Atc	p.L165I	TCEB3_ENST00000609199.1_Missense_Mutation_p.L139I	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	165					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.L139I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACTCTCGGAGCTCGAGAGACC	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											65	68	67					1																	24077510		2203	4300	6503	23950097	SO:0001583	missense	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.493C>A	1.37:g.24077510C>A	ENSP00000395574:p.Leu165Ile		23950097	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	CCDS239.2	.	.	.	.	.	.	.	.	.	.	C	8.491	0.862058	0.17178	.	.	ENSG00000011007	ENST00000418390	T	0.06768	3.26	5.95	0.31	0.15825	.	1.282700	0.05178	N	0.500796	T	0.08626	0.0214	L	0.39898	1.24	0.09310	N	1	B	0.20887	0.049	B	0.22386	0.039	T	0.43572	-0.9383	10	0.25106	T	0.35	0.0406	8.541	0.33393	0.0:0.6344:0.105:0.2606	.	165	Q14241	ELOA1_HUMAN	I	165	ENSP00000395574:L165I	ENSP00000395574:L165I	L	+	1	0	TCEB3	23950097	0.604000	0.26932	0.106000	0.21319	0.747000	0.42532	0.700000	0.25601	0.137000	0.18759	-0.175000	0.13238	CTC		0.522	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		A	24077510	C	A	24077510	3	1	225	1	0	0	0	0	1	0	0	0	15681	797	28	3	507	3	TCEB3	1	24077510	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08		24077510	225173111	1	12748											
ECM1	1893	broad.mit.edu	37	1	150483554	150483554	+	Silent	SNP	A	A	G			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr1:150483554A>G	ENST00000369047.4	+	6	713	c.588A>G	c.(586-588)ccA>ccG	p.P196P	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.P223P|ECM1_ENST00000346569.6_Silent_p.P196P	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	196	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.P196P(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAACCTACCACAGTCCAGCT	0.582																																					Melanoma(156;1696 2560 11093 19685)											1	Substitution - coding silent(1)	ovary(1)	1											144	147	146					1																	150483554		2203	4300	6503	148750178	SO:0001819	synonymous_variant	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.588A>G	1.37:g.150483554A>G			148750178	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	CCDS953.1																																																																																				0.582	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		G	150483554	A	G	150483554	2	3	225	1	0	0	0	0	0	0	0	1	4897	146	6	4		4	ECM1	1	150483554	Silent	SNP	A	TCGA-24-1431-01A-01D-0472-08	126406044	150483554	98767067	2	12749											
SMG5	23381	broad.mit.edu	37	1	156230371	156230371	+	Silent	SNP	T	T	C			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr1:156230371T>C	ENST00000361813.5	-	15	2298	c.2154A>G	c.(2152-2154)gaA>gaG	p.E718E	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	718					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.E718E(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGTCAGGCAGTTCACAACCTT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	1											79	65	69					1																	156230371		2203	4300	6503	154496995	SO:0001819	synonymous_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2154A>G	1.37:g.156230371T>C			154496995	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	CCDS1137.1																																																																																				0.567	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		C	156230371	T	C	156230371	2	2	225	1	0	0	0	0	0	0	0	1	14799	1722	60	4		4	SMG5	1	156230371	Silent	SNP	T	TCGA-24-1431-01A-01D-0472-08	5746817	156230371	93020250	3	12750											
ATP1B1	481	broad.mit.edu	37	1	169080710	169080710	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr1:169080710C>T	ENST00000367816.1	+	3	729	c.200C>T	c.(199-201)aCa>aTa	p.T67I	ATP1B1_ENST00000367815.4_Missense_Mutation_p.T67I|ATP1B1_ENST00000499679.3_Missense_Mutation_p.T11I|ATP1B1_ENST00000367813.3_Missense_Mutation_p.T59I			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	67					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.T67I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TTTAAGCCCACATATCAGGAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											106	102	103					1																	169080710		2203	4300	6503	167347334	SO:0001583	missense	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.200C>T	1.37:g.169080710C>T	ENSP00000356790:p.Thr67Ile		167347334	Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	37	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224540	0.79576	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.17	4.13	0.48395	.	0.110120	0.64402	D	0.000009	T	0.33089	0.0851	M	0.75884	2.315	0.37639	D	0.921976	D	0.58268	0.982	P	0.52386	0.697	T	0.28964	-1.0027	9	0.62326	D	0.03	-23.2109	10.8612	0.46827	0.4097:0.5903:0.0:0.0	.	67	P05026	AT1B1_HUMAN	I	67;67;11;59	ENSP00000356790:T67I;ENSP00000356789:T67I;ENSP00000423450:T11I;ENSP00000356787:T59I	ENSP00000356787:T59I	T	+	2	0	ATP1B1	167347334	0.999000	0.42202	0.959000	0.39883	0.994000	0.84299	4.443000	0.59994	2.559000	0.86315	0.650000	0.86243	ACA		0.433	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			T	169080710	C	T	169080710	3	4	225	1	0	0	0	0	1	0	0	0	1132	478	17	2	206	2	ATP1B1	1	169080710	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08	12850339	169080710	80169911	4	12751											
MTR	4548	broad.mit.edu	37	1	237015827	237015827	+	Silent	SNP	T	T	C			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr1:237015827T>C	ENST00000366577.5	+	17	2096	c.1702T>C	c.(1702-1704)Tta>Cta	p.L568L	MTR_ENST00000535889.1_Silent_p.L568L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	568	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.L568L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CCAGGAAACATTACCTGGAGC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	1											63	67	66					1																	237015827		2203	4300	6503	235082450	SO:0001819	synonymous_variant	4548			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1702T>C	1.37:g.237015827T>C			235082450	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	CCDS1614.1																																																																																				0.388	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		C	237015827	T	C	237015827	2	2	225	1	0	0	0	0	0	0	0	1	9958	1490	52	4		4	MTR	1	237015827	Silent	SNP	T	TCGA-24-1431-01A-01D-0472-08	67935117	237015827	12234794	5	12752											
USP34	9736	broad.mit.edu	37	2	61436105	61436105	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr2:61436105T>C	ENST00000398571.2	-	70	8924	c.8848A>G	c.(8848-8850)Aga>Gga	p.R2950G	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2950					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R2950G(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AATAGTATTCTGAAGGCACTA	0.294																																																1	Substitution - Missense(1)	ovary(1)	2											74	73	73					2																	61436105		1811	4053	5864	61289609	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8848A>G	2.37:g.61436105T>C	ENSP00000381577:p.Arg2950Gly		61289609	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.040782|4.040782	0.75732|0.75732	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398571	.|T	.|0.63744	.|-0.06	6.0|6.0	4.83|4.83	0.62350|0.62350	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59280|0.59280	0.2182|0.2182	L|L	0.58101|0.58101	1.795|1.795	0.50813|0.50813	D|D	0.999896|0.999896	.|B	.|0.17667	.|0.023	.|B	.|0.18871	.|0.023	T|T	0.57929|0.57929	-0.7726|-0.7726	5|10	.|0.87932	.|D	.|0	.|.	12.6368|12.6368	0.56687|0.56687	0.0:0.0:0.2606:0.7394|0.0:0.0:0.2606:0.7394	.|.	.|2950	.|Q70CQ2	.|UBP34_HUMAN	R|G	709|2798;2950	.|ENSP00000381577:R2950G	.|ENSP00000263989:R2798G	Q|R	-|-	2|1	0|2	USP34|USP34	61289609|61289609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.781000|2.781000	0.47750|0.47750	1.067000|1.067000	0.40740|0.40740	0.528000|0.528000	0.53228|0.53228	CAG|AGA		0.294	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61436105	T	C	61436105	3	2	225	1	0	0	0	0	1	0	0	0	17065	1588	55	4	1836	4	USP34	2	61436105	Missense_Mutation	SNP	T	TCGA-24-1431-01A-01D-0472-08		61436105	181763268	6	12753											
LRRTM1	347730	broad.mit.edu	37	2	80529398	80529398	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr2:80529398G>T	ENST00000295057.3	-	2	2203	c.1547C>A	c.(1546-1548)cCc>cAc	p.P516H	CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P516H|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	516					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P516H(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TTCCCTCGCGGGCTGCTGGTG	0.602										HNSCC(69;0.2)																																						1	Substitution - Missense(1)	ovary(1)	2											81	69	73					2																	80529398		2203	4300	6503	80382909	SO:0001583	missense	347730			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1547C>A	2.37:g.80529398G>T	ENSP00000295057:p.Pro516His		80382909	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473402	0.84640	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.45668	0.89;0.89	4.99	4.99	0.66335	.	0.000000	0.64402	U	0.000001	T	0.47930	0.1472	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.43540	-0.9385	9	.	.	.	.	18.2542	0.90014	0.0:0.0:1.0:0.0	.	516	Q86UE6	LRRT1_HUMAN	H	516	ENSP00000295057:P516H;ENSP00000386646:P516H	.	P	-	2	0	LRRTM1	80382909	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	9.745000	0.98856	2.276000	0.75962	0.561000	0.74099	CCC		0.602	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		T	80529398	G	T	80529398	3	4	225	1	0	0	0	0	1	0	0	0	9039	1232	43	3	25	3	LRRTM1	2	80529398	Missense_Mutation	SNP	G	TCGA-24-1431-01A-01D-0472-08	19093293	80529398	162669975	7	12754											
ANKZF1	55139	broad.mit.edu	37	2	220099841	220099841	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr2:220099841G>C	ENST00000323348.5	+	10	1672	c.1498G>C	c.(1498-1500)Gct>Cct	p.A500P	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A290P|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A500P	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	500						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.A500P(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCACTGCTTGCTGCTTGCCG	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											52	56	55					2																	220099841		2020	4180	6200	219808085	SO:0001583	missense	55139			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1498G>C	2.37:g.220099841G>C	ENSP00000321617:p.Ala500Pro		219808085	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999766	0.54147	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.54675	0.56;0.56;0.56	5.41	4.51	0.55191	Ankyrin repeat-containing domain (2);	0.050173	0.85682	D	0.000000	T	0.61527	0.2354	M	0.63428	1.95	0.36600	D	0.874593	D	0.63880	0.993	P	0.59288	0.855	T	0.68903	-0.5286	10	0.72032	D	0.01	-6.021	8.2297	0.31590	0.1588:0.0:0.8412:0.0	.	500	Q9H8Y5	ANKZ1_HUMAN	P	500;290;500	ENSP00000321617:A500P;ENSP00000386815:A290P;ENSP00000386337:A500P	ENSP00000321617:A500P	A	+	1	0	ANKZF1	219808085	0.278000	0.24230	0.957000	0.39632	0.623000	0.37688	1.952000	0.40343	2.814000	0.96858	0.591000	0.81541	GCT		0.607	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		C	220099841	G	C	220099841	3	2	225	1	0	0	0	0	1	0	0	0	693	1319	46	3	1532	3	ANKZF1	2	220099841	Missense_Mutation	SNP	G	TCGA-24-1431-01A-01D-0472-08	139570443	220099841	23099532	8	12755											
CHRD	8646	broad.mit.edu	37	3	184102421	184102421	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr3:184102421G>A	ENST00000204604.1	+	13	1783	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	CHRD_ENST00000450923.1_Missense_Mutation_p.G513R|CHRD_ENST00000348986.3_Missense_Mutation_p.G473R|CHRD_ENST00000545352.1_Missense_Mutation_p.G143R|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	513	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.G513R(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTTCCCAGACGGAGAGCTTCG	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											66	61	63					3																	184102421		2203	4300	6503	185585115	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1537G>A	3.37:g.184102421G>A	ENSP00000204604:p.Gly513Arg		185585115	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818007	0.90790	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.08	5.08	0.68730	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	M	0.79926	2.475	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;0.998;0.99;1.0	T	0.80792	-0.1224	10	0.87932	D	0	-9.4521	17.931	0.88998	0.0:0.0:1.0:0.0	.	143;473;513;513	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	R	513;513;473;143;226	ENSP00000204604:G513R;ENSP00000408972:G513R;ENSP00000334036:G473R;ENSP00000442948:G143R	ENSP00000204604:G513R	G	+	1	0	CHRD	185585115	1.000000	0.71417	0.978000	0.43139	0.883000	0.51084	8.798000	0.91888	2.744000	0.94065	0.655000	0.94253	GGA		0.627	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		A	184102421	G	A	184102421	3	1	225	1	0	0	0	0	1	0	0	0	3372	1117	39	1	1587	1	CHRD	3	184102421	Missense_Mutation	SNP	G	TCGA-24-1431-01A-01D-0472-08		184102421	13920009	9	12756											
HTR1A	3350	broad.mit.edu	37	5	63257368	63257368	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr5:63257368G>A	ENST00000323865.3	-	1	412	c.179C>T	c.(178-180)gCc>gTc	p.A60V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	60					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.A60V(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAAGGCGATGGCAGCCACCAC	0.607																																																1	Substitution - Missense(1)	ovary(1)	5											68	70	69					5																	63257368		2203	4300	6503	63293124	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.179C>T	5.37:g.63257368G>A	ENSP00000316244:p.Ala60Val		63293124	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782295	0.70222	.	.	ENSG00000178394	ENST00000323865	T	0.33216	1.42	4.51	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.57373	0.2049	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62946	-0.6746	10	0.87932	D	0	.	11.5623	0.50785	0.088:0.0:0.912:0.0	.	60	P08908	5HT1A_HUMAN	V	60	ENSP00000316244:A60V	ENSP00000316244:A60V	A	-	2	0	HTR1A	63293124	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	9.824000	0.99380	0.895000	0.36342	-0.258000	0.10820	GCC		0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		A	63257368	G	A	63257368	3	1	225	1	0	0	0	0	1	0	0	0	7436	1203	42	2	1092	2	HTR1A	5	63257368	Missense_Mutation	SNP	G	TCGA-24-1431-01A-01D-0472-08		63257368	117657892	10	12757											
IQGAP2	10788	broad.mit.edu	37	5	75979615	75979615	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr5:75979615G>A	ENST00000274364.6	+	30	4075	c.3778G>A	c.(3778-3780)Gac>Aac	p.D1260N	IQGAP2_ENST00000379730.3_Missense_Mutation_p.D762N|IQGAP2_ENST00000502745.1_Missense_Mutation_p.D756N|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D756N	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1260					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.D1260N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGGAGCAGTTGACCCCAATGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	5											97	89	92					5																	75979615		2203	4300	6503	76015371	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3778G>A	5.37:g.75979615G>A	ENSP00000274364:p.Asp1260Asn		76015371	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945750	0.53079	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.66	4.79	0.61399	.	0.047529	0.85682	D	0.000000	T	0.45256	0.1333	L	0.58428	1.81	0.80722	D	1	B;B;B	0.15141	0.01;0.01;0.012	B;B;B	0.24155	0.034;0.051;0.023	T	0.34153	-0.9840	10	0.17832	T	0.49	-29.1511	14.7584	0.69588	0.0696:0.0:0.9304:0.0	.	762;756;1260	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	N	1260;762;1210;756;756	ENSP00000274364:D1260N;ENSP00000442313:D762N;ENSP00000421097:D1210N;ENSP00000379535:D756N;ENSP00000426027:D756N	ENSP00000274364:D1260N	D	+	1	0	IQGAP2	76015371	1.000000	0.71417	0.542000	0.28115	0.984000	0.73092	6.522000	0.73783	1.382000	0.46385	0.650000	0.86243	GAC		0.418	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		A	75979615	G	A	75979615	3	1	225	1	0	0	0	0	1	0	0	0	7815	1290	45	2	3896	2	IQGAP2	5	75979615	Missense_Mutation	SNP	G	TCGA-24-1431-01A-01D-0472-08	12722247	75979615	104935645	11	12758											
TMEM181	57583	broad.mit.edu	37	6	158994457	158994457	+	Missense_Mutation	SNP	C	C	T	rs371659971		TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr6:158994457C>T	ENST00000367090.3	+	2	436	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	142					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.A142V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CCCAGGCTGGCGCCCATGCGG	0.617													C|||	1	0.000199681	0	0	5008	,	,		14184	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	6						C	VAL/ALA	1,4255		0,1,2127	46	48	47		425	4.8	1	6		47	0,8424		0,0,4212	no	missense	TMEM181	NM_020823.1	64	0,1,6339	TT,TC,CC		0.0,0.0235,0.0079	benign	142/613	158994457	1,12679	2128	4212	6340	158914445	SO:0001583	missense	57583			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.425C>T	6.37:g.158994457C>T	ENSP00000356057:p.Ala142Val		158914445	Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873089	0.51695	2.35E-4	0.0	ENSG00000146433	ENST00000367090	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.04335	-0.225	0.80722	D	1	D	0.59767	0.986	P	0.46253	0.509	T	0.13098	-1.0522	9	0.02654	T	1	.	16.9834	0.86334	0.0:1.0:0.0:0.0	.	142	Q9P2C4	TM181_HUMAN	V	142	.	ENSP00000356057:A142V	A	+	2	0	TMEM181	158914445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.640000	0.74319	2.358000	0.79984	0.557000	0.71058	GCG		0.617	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		T	158994457	C	T	158994457	3	4	225	1	0	0	0	0	1	0	0	0	16100	768	27	1	431	1	TMEM181	6	158994457	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08		158994457	12120610	12	12759											
STEAP2	261729	broad.mit.edu	37	7	89854832	89854832	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr7:89854832T>C	ENST00000287908.3	+	2	829	c.436T>C	c.(436-438)Ttt>Ctt	p.F146L	STEAP2_ENST00000394622.2_Missense_Mutation_p.F146L|STEAP2_ENST00000394632.1_Missense_Mutation_p.F146L|STEAP2_ENST00000394626.1_Missense_Mutation_p.F146L|STEAP2_ENST00000402625.2_Missense_Mutation_p.F146L|STEAP2_ENST00000394629.2_Missense_Mutation_p.F146L|STEAP2_ENST00000394621.2_Missense_Mutation_p.F146L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	146					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.F146L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGTCAAAGGATTTAATGTTGT	0.378																																																1	Substitution - Missense(1)	ovary(1)	7											101	104	103					7																	89854832		2203	4300	6503	89692768	SO:0001583	missense	261729			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.436T>C	7.37:g.89854832T>C	ENSP00000287908:p.Phe146Leu		89692768	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606790	0.87157	.	.	ENSG00000157214	ENST00000428074;ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.71	5.71	0.89125	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.72118	2.19	0.52501	D	0.999959	P;B;D;D	0.89917	0.778;0.324;1.0;1.0	B;B;D;D	0.85130	0.155;0.04;0.997;0.997	T	0.33266	-0.9875	10	0.66056	D	0.02	-23.4642	15.9837	0.80133	0.0:0.0:0.0:1.0	.	146;146;146;146	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	L	146	ENSP00000401783:F146L;ENSP00000287908:F146L;ENSP00000378123:F146L;ENSP00000378120:F146L;ENSP00000378128:F146L;ENSP00000378119:F146L;ENSP00000384191:F146L;ENSP00000378125:F146L	ENSP00000287908:F146L	F	+	1	0	STEAP2	89692768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.279000	0.72620	2.185000	0.69588	0.528000	0.53228	TTT		0.378	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		C	89854832	T	C	89854832	3	2	225	1	0	0	0	0	1	0	0	0	15280	1493	52	4	438	4	STEAP2	7	89854832	Missense_Mutation	SNP	T	TCGA-24-1431-01A-01D-0472-08		89854832	69283831	13	12760											
PTDSS1	9791	broad.mit.edu	37	8	97342500	97342500	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr8:97342500C>A	ENST00000517309.1	+	11	1559	c.1233C>A	c.(1231-1233)caC>caA	p.H411Q	PTDSS1_ENST00000455950.2_Missense_Mutation_p.H265Q|PTDSS1_ENST00000522072.1_Missense_Mutation_p.H208Q	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	411					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.H411Q(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACTATGGTCACCGAGAAAAGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	8											113	100	104					8																	97342500		2203	4300	6503	97411676	SO:0001583	missense	9791			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1233C>A	8.37:g.97342500C>A	ENSP00000430548:p.His411Gln		97411676	E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102225	0.08731	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.42131	1.04;1.03;0.98	5.6	2.76	0.32466	.	0.213391	0.50627	N	0.000112	T	0.14056	0.0340	N	0.02539	-0.55	0.32902	D	0.513285	B	0.06786	0.001	B	0.04013	0.001	T	0.14337	-1.0476	10	0.13853	T	0.58	-15.3401	4.5244	0.11975	0.158:0.6065:0.1524:0.0831	.	411	P48651	PTSS1_HUMAN	Q	411;265;208	ENSP00000430548:H411Q;ENSP00000401248:H265Q;ENSP00000430928:H208Q	ENSP00000401248:H265Q	H	+	3	2	PTDSS1	97411676	1.000000	0.71417	0.975000	0.42487	0.467000	0.32768	0.817000	0.27281	0.285000	0.22329	-0.268000	0.10319	CAC		0.463	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			A	97342500	C	A	97342500	3	1	225	1	0	0	0	0	1	0	0	0	12739	506	18	3	1275	3	PTDSS1	8	97342500	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08		97342500	49021522	14	12761											
OR56A1	120796	broad.mit.edu	37	11	6048913	6048913	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr11:6048913G>T	ENST00000316650.5	-	1	58	c.22C>A	c.(22-24)Ccc>Acc	p.P8T		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P8T(2)|p.P8N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTTGCTGGGTGACGCCATA	0.488																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	11											119	120	120					11																	6048913		2201	4296	6497	6005489	SO:0001583	missense	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.22C>A	11.37:g.6048913G>T	ENSP00000321246:p.Pro8Thr		6005489	B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	6.046	0.376870	0.11466	.	.	ENSG00000180934	ENST00000316650	T	0.37058	1.22	3.83	-0.559	0.11792	.	0.667620	0.12147	U	0.495246	T	0.11196	0.0273	N	0.02721	-0.515	0.09310	N	1	B	0.20550	0.046	B	0.23275	0.045	T	0.25984	-1.0116	10	0.17832	T	0.49	.	0.5535	0.00666	0.334:0.1727:0.3172:0.1761	.	8	Q8NGH5	O56A1_HUMAN	T	8	ENSP00000321246:P8T	ENSP00000321246:P8T	P	-	1	0	OR56A1	6005489	0.000000	0.05858	0.001000	0.08648	0.299000	0.27559	-0.652000	0.05366	0.077000	0.16863	0.563000	0.77884	CCC		0.488	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		T	6048913	G	T	6048913	3	4	225	1	0	0	0	0	1	0	0	0	11133	1261	44	3	938	3	OR56A1	11	6048913	Missense_Mutation	SNP	G	TCGA-24-1431-01A-01D-0472-08		6048913	128957603	15	12762											
LGR4	55366	broad.mit.edu	37	11	27389448	27389448	+	Missense_Mutation	SNP	C	C	A	rs202048946		TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr11:27389448C>A	ENST00000379214.4	-	18	3265	c.2822G>T	c.(2821-2823)cGc>cTc	p.R941L	LGR4_ENST00000389858.4_Missense_Mutation_p.R917L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	941					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.R941L(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GTAAGCATAGCGCACCAAAGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											106	108	107					11																	27389448		2202	4299	6501	27346024	SO:0001583	missense	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2822G>T	11.37:g.27389448C>A	ENSP00000368516:p.Arg941Leu		27346024	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308799	0.81247	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.60548	0.18;0.3	5.88	5.88	0.94601	.	0.157428	0.64402	D	0.000014	T	0.61813	0.2377	N	0.24115	0.695	0.80722	D	1	D;D	0.57257	0.979;0.965	P;P	0.56216	0.794;0.627	T	0.64782	-0.6326	10	0.72032	D	0.01	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	917;941	G5E9B3;Q9BXB1	.;LGR4_HUMAN	L	941;917	ENSP00000368516:R941L;ENSP00000374508:R917L	ENSP00000368516:R941L	R	-	2	0	LGR4	27346024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.393000	0.66279	2.792000	0.96026	0.555000	0.69702	CGC		0.458	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		A	27389448	C	A	27389448	3	1	225	1	0	0	0	0	1	0	0	0	8756	768	27	3	37	3	LGR4	11	27389448	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08	21340535	27389448	107617068	16	12763											
FAT3	120114	broad.mit.edu	37	11	92495129	92495129	+	Nonsense_Mutation	SNP	C	C	A	rs201043437		TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr11:92495129C>A	ENST00000298047.6	+	4	3794	c.3777C>A	c.(3775-3777)taC>taA	p.Y1259*	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y1259*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y1109*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1259	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y1259*(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAAGGTCTACCAGATCAAGC	0.488										TCGA Ovarian(4;0.039)																																						1	Substitution - Nonsense(1)	ovary(1)	11											180	175	176					11																	92495129		1912	4129	6041	92134777	SO:0001587	stop_gained	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3777C>A	11.37:g.92495129C>A	ENSP00000298047:p.Tyr1259*		92134777	B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	43	9.936552	0.99299	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.58	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3228	0.32138	0.0:0.619:0.0:0.381	.	.	.	.	X	1259;1259;1109	.	ENSP00000298047:Y1259X	Y	+	3	2	FAT3	92134777	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.533000	0.23082	1.355000	0.45865	0.563000	0.77884	TAC		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92495129	C	A	92495129	4	1	225	1	0	0	0	0	0	1	0	0	5691	518	18	3	3791	3	FAT3	11	92495129	Nonsense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08	65105681	92495129	42511387	17	12764											
PRB4	5545	broad.mit.edu	37	12	11461282	11461282	+	Missense_Mutation	SNP	T	T	A	rs368003440		TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr12:11461282T>A	ENST00000535904.1	-	3	668	c.635A>T	c.(634-636)aAt>aTt	p.N212I	PRB4_ENST00000279575.1_Missense_Mutation_p.N212I|PRB4_ENST00000445719.2_Missense_Mutation_p.N143I			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	234	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)		p.N212I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGCTGGGGATTGCCTCCTGC	0.652										HNSCC(22;0.051)																																						1	Substitution - Missense(1)	ovary(1)	12											102	115	110					12																	11461282		2203	4300	6503	11352549	SO:0001583	missense	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.635A>T	12.37:g.11461282T>A	ENSP00000442834:p.Asn212Ile		11352549	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	4.603	0.112126	0.08831	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.05580	3.42;3.42;3.42	0.916	-1.83	0.07833	.	.	.	.	.	T	0.06781	0.0173	L	0.59436	1.845	0.09310	N	1	D	0.58268	0.982	P	0.44422	0.449	T	0.15321	-1.0441	9	0.54805	T	0.06	.	1.4043	0.02277	0.3277:0.2656:0.0:0.4067	.	212	E9PAL0	.	I	212;212;143	ENSP00000279575:N212I;ENSP00000442834:N212I;ENSP00000412740:N143I	ENSP00000279575:N212I	N	-	2	0	PRB4	11352549	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.598000	0.05706	-0.855000	0.04125	0.329000	0.21502	AAT		0.652	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		A	11461282	T	A	11461282	3	1	225	1	0	0	0	0	1	0	0	0	12448	1493	52	5	112	5	PRB4	12	11461282	Missense_Mutation	SNP	T	TCGA-24-1431-01A-01D-0472-08		11461282	122390613	18	12765											
EML5	161436	broad.mit.edu	37	14	89129375	89129375	+	Splice_Site	SNP	C	C	T			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr14:89129375C>T	ENST00000380664.5	-	24	3497	c.3498G>A	c.(3496-3498)gaG>gaA	p.E1166E	EML5_ENST00000352093.5_Splice_Site_p.E1128E|EML5_ENST00000554922.1_Splice_Site_p.E1166E			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1166						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.E1166E(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTTGTCCTACCTCCACGCTGG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	14											54	55	55					14																	89129375		1819	3981	5800	88199128	SO:0001630	splice_region_variant	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3498+1G>A	14.37:g.89129375C>T			88199128	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.408	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		Silent	T	89129375	C	T	89129375	5	4	225	1	0	0	0	0	0	0	1	0	5100	695	24	2	2515	2	EML5	14	89129375	Splice_Site	SNP	C	TCGA-24-1431-01A-01D-0472-08		89129375	18220165	19	12766											
TLN2	83660	broad.mit.edu	37	15	63125721	63125721	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr15:63125721G>A	ENST00000561311.1	+	54	7251	c.7021G>A	c.(7021-7023)Gac>Aac	p.D2341N	RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.D2341N|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2341	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D2341N(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGAGACCCTGGACTTTGAGGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	15											161	162	162					15																	63125721		2203	4300	6503	60912774	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7021G>A	15.37:g.63125721G>A	ENSP00000453508:p.Asp2341Asn		60912774	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051295	0.55218	.	.	ENSG00000171914	ENST00000306829	T	0.30981	1.51	5.84	4.92	0.64577	I/LWEQ (3);	0.042477	0.85682	D	0.000000	T	0.08758	0.0217	N	0.00599	-1.345	0.50467	D	0.999878	B	0.02656	0.0	B	0.06405	0.002	T	0.30090	-0.9990	10	0.02654	T	1	-20.3183	15.3454	0.74334	0.0679:0.0:0.9321:0.0	.	2341	Q9Y4G6	TLN2_HUMAN	N	2341	ENSP00000303476:D2341N	ENSP00000303476:D2341N	D	+	1	0	TLN2	60912774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.742000	0.68646	2.767000	0.95098	0.561000	0.74099	GAC		0.507	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63125721	G	A	63125721	3	1	225	1	0	0	0	0	1	0	0	0	15948	1174	41	2	7227	2	TLN2	15	63125721	Missense_Mutation	SNP	G	TCGA-24-1431-01A-01D-0472-08		63125721	39405671	20	12767											
PRSS54	221191	broad.mit.edu	37	16	58327680	58327680	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr16:58327680C>T	ENST00000219301.4	-	3	435	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	PRSS54_ENST00000567164.1_Missense_Mutation_p.R14Q|PRSS54_ENST00000543437.1_5'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	14						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R14Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGCACCCCTCGCATCTTGCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	16											90	66	74					16																	58327680		2198	4300	6498	56885181	SO:0001583	missense	221191			AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"Serine peptidases / Serine peptidases"	26336	protein-coding gene	gene with protein product	"cancer/testis antigen 67"					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.41G>A	16.37:g.58327680C>T	ENSP00000219301:p.Arg14Gln		56885181	Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236359	0.39498	.	.	ENSG00000103023	ENST00000219301	D	0.89746	-2.56	4.38	3.42	0.39159	.	0.105490	0.38778	N	0.001565	T	0.78641	0.4315	L	0.36672	1.1	0.28425	N	0.917563	D	0.53745	0.962	B	0.33196	0.159	T	0.74621	-0.3604	10	0.54805	T	0.06	-12.4193	8.9302	0.35666	0.0:0.8922:0.0:0.1078	.	14	Q6PEW0	PRS54_HUMAN	Q	14	ENSP00000219301:R14Q	ENSP00000219301:R14Q	R	-	2	0	PRSS54	56885181	0.000000	0.05858	0.867000	0.34043	0.090000	0.18270	-0.546000	0.06062	1.133000	0.42147	-0.266000	0.10368	CGA		0.577	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		T	58327680	C	T	58327680	3	4	225	1	0	0	0	0	1	0	0	0	12636	884	31	1	1166	1	PRSS54	16	58327680	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08		58327680	32027073	21	12768											
NEURL4	84461	broad.mit.edu	37	17	7229863	7229863	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr17:7229863C>T	ENST00000399464.2	-	5	1112	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	NEURL4_ENST00000570460.1_Missense_Mutation_p.R344H|NEURL4_ENST00000315614.7_Missense_Mutation_p.R366H	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	366	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R366H(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGTCGATACGGATCTGGCA	0.547																																																2	Substitution - Missense(2)	ovary(2)	17											87	93	91					17																	7229863		2024	4185	6209	7170587	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1097G>A	17.37:g.7229863C>T	ENSP00000382390:p.Arg366His		7170587	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450527	0.84101	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.38560	1.14;1.13	5.28	5.28	0.74379	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.86028	2.79	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72994	-0.4122	10	0.72032	D	0.01	-17.15	15.9324	0.79675	0.0:1.0:0.0:0.0	.	366;366	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	H	366	ENSP00000319826:R366H;ENSP00000382390:R366H	ENSP00000319826:R366H	R	-	2	0	NEURL4	7170587	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	7.192000	0.77771	2.755000	0.94549	0.655000	0.94253	CGT		0.547	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		T	7229863	C	T	7229863	3	4	225	1	0	0	0	0	1	0	0	0	10347	536	19	1	3691	1	NEURL4	17	7229863	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08		7229863	73965347	22	12769											
FKBP10	60681	broad.mit.edu	37	17	39976624	39976624	+	Silent	SNP	T	T	G			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr17:39976624T>G	ENST00000321562.4	+	7	1271	c.1167T>G	c.(1165-1167)tcT>tcG	p.S389S	FKBP10_ENST00000544340.1_Silent_p.S162S	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	389					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S389S(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CCCGGCCATCTGAGACCTGCA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	17											164	153	157					17																	39976624		2203	4300	6503	37230150	SO:0001819	synonymous_variant	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1167T>G	17.37:g.39976624T>G			37230150	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.480280	0.01027	.	.	ENSG00000141756	ENST00000455106	.	.	.	4.31	-8.63	0.00878	.	.	.	.	.	T	0.45054	0.1323	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.65294	-0.6203	4	.	.	.	-26.3745	5.882	0.18860	0.0721:0.3699:0.3836:0.1744	.	.	.	.	R	193	.	.	L	+	2	0	FKBP10	37230150	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.304000	0.00256	-5.649000	0.00011	-2.339000	0.00246	CTG		0.542	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		G	39976624	T	G	39976624	2	3	225	1	0	0	0	0	0	0	0	1	5902	1567	55	5		5	FKBP10	17	39976624	Silent	SNP	T	TCGA-24-1431-01A-01D-0472-08	32746761	39976624	41218586	23	12770											
TANC2	26115	broad.mit.edu	37	17	61495768	61495768	+	Splice_Site	SNP	G	G	A			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr17:61495768G>A	ENST00000424789.2	+	24	4020	c.4016G>A	c.(4015-4017)aGa>aAa	p.R1339K	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Splice_Site_p.R1349K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1339					in utero embryonic development (GO:0001701)			p.R1349K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CGCAGCAGCAGGTGAGGAGAG	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											44	40	41					17																	61495768		1997	4166	6163	58849500	SO:0001630	splice_region_variant	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4016+1G>A	17.37:g.61495768G>A			58849500	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	36	5.736616	0.96865	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.59224	0.28;0.28	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.041735	0.85682	D	0.000000	T	0.61677	0.2366	N	0.11673	0.155	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.63301	-0.6668	10	0.33141	T	0.24	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	1339	Q9HCD6	TANC2_HUMAN	K	1349;1339	ENSP00000374171:R1349K;ENSP00000387593:R1339K	ENSP00000374171:R1349K	R	+	2	0	TANC2	58849500	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.821000	0.97095	0.555000	0.69702	AGA		0.498	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		Missense_Mutation	A	61495768	G	A	61495768	5	1	225	1	0	0	0	0	0	0	1	0	15545	1014	35	2	4110	2	TANC2	17	61495768	Splice_Site	SNP	G	TCGA-24-1431-01A-01D-0472-08	21519144	61495768	19699442	24	12771											
ZNF121	7675	broad.mit.edu	37	19	9677501	9677501	+	Silent	SNP	G	G	C			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr19:9677501G>C	ENST00000586602.1	-	6	704	c.288C>G	c.(286-288)gcC>gcG	p.A96A	ZNF121_ENST00000320451.6_Silent_p.A96A			P58317	ZN121_HUMAN	zinc finger protein 121	96				AF -> NS (in Ref. 2; M99593). {ECO:0000305}.	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.A96A(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						GATCAACAAAGGCTTCCTCAC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	19											118	97	104					19																	9677501		2203	4300	6503	9538501	SO:0001819	synonymous_variant	7675			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"Zinc fingers, C2H2-type"	12904	protein-coding gene	gene with protein product		194628	"zinc finger protein 121 (clone ZHC32)"	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.288C>G	19.37:g.9677501G>C			9538501		Silent	SNP	ENST00000586602.1	37																																																																																					0.428	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		C	9677501	G	C	9677501	2	2	225	1	0	0	0	0	0	0	0	1	17719	987	35	3		3	ZNF121	19	9677501	Silent	SNP	G	TCGA-24-1431-01A-01D-0472-08		9677501	49451482	25	12772											
CILP2	148113	broad.mit.edu	37	19	19653197	19653197	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr19:19653197C>G	ENST00000291495.5	+	5	691	c.606C>G	c.(604-606)gaC>gaG	p.D202E	CILP2_ENST00000586018.1_Missense_Mutation_p.D208E|CILP2_ENST00000588333.2_3'UTR	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	202						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.D202E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCAGCCTTGACACCTGTGAAT	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											33	32	32					19																	19653197		2203	4300	6503	19514197	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.606C>G	19.37:g.19653197C>G	ENSP00000291495:p.Asp202Glu		19514197	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234637	0.22626	.	.	ENSG00000160161	ENST00000291495	T	0.52295	0.67	5.23	0.437	0.16555	.	0.424079	0.27664	N	0.018380	T	0.35799	0.0944	L	0.49126	1.545	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.24155	0.039;0.051	T	0.31806	-0.9930	10	0.66056	D	0.02	-21.5872	3.6921	0.08350	0.2799:0.4951:0.1415:0.0835	.	202;202	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	E	202	ENSP00000291495:D202E	ENSP00000291495:D202E	D	+	3	2	CILP2	19514197	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	0.229000	0.17833	0.190000	0.20209	0.555000	0.69702	GAC		0.592	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		G	19653197	C	G	19653197	3	3	225	1	0	0	0	0	1	0	0	0	3430	477	17	3	624	3	CILP2	19	19653197	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08	9975696	19653197	39475786	26	12773											
RTN2	6253	broad.mit.edu	37	19	45992716	45992716	+	Missense_Mutation	SNP	C	C	T	rs146778767		TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr19:45992716C>T	ENST00000245923.4	-	6	1364	c.1129G>A	c.(1129-1131)Gtg>Atg	p.V377M	RTN2_ENST00000430715.2_Missense_Mutation_p.V37M|RTN2_ENST00000590526.1_Missense_Mutation_p.V103M|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.V304M	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	377	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.V377M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCCACGGACACGATGCTAAAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19							MET/VAL,MET/VAL,MET/VAL	0,4404		0,0,2202	86	49	62		1129,910,109	3.4	1	19	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RTN2	NM_005619.3,NM_206900.1,NM_206901.1	21,21,21	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	377/546,304/473,37/206	45992716	1,13003	2202	4300	6502	50684556	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1129G>A	19.37:g.45992716C>T	ENSP00000245923:p.Val377Met		50684556	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981305	0.34942	0.0	1.16E-4	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.50277	0.75;0.75;0.75	4.47	3.42	0.39159	.	0.063689	0.64402	D	0.000010	T	0.61009	0.2313	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.983;0.988	T	0.62737	-0.6791	10	0.87932	D	0	-14.6599	9.673	0.40023	0.2074:0.7926:0.0:0.0	.	304;377	O75298-2;O75298	.;RTN2_HUMAN	M	304;377;37	ENSP00000345127:V304M;ENSP00000245923:V377M;ENSP00000398178:V37M	ENSP00000245923:V377M	V	-	1	0	RTN2	50684556	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	1.137000	0.31479	1.093000	0.41377	-0.188000	0.12872	GTG		0.622	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		T	45992716	C	T	45992716	3	4	225	1	0	0	0	0	1	0	0	0	13729	536	19	1	532	1	RTN2	19	45992716	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08	26339519	45992716	13136267	27	12774											
BPI	671	broad.mit.edu	37	20	36956004	36956004	+	Silent	SNP	C	C	T			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr20:36956004C>T	ENST00000262865.4	+	11	1277	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	396					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.S396S(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CAACTGGTTCCATGGAGGTCA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	20											138	111	120					20																	36956004		2203	4300	6503	36389418	SO:0001819	synonymous_variant	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1188C>T	20.37:g.36956004C>T			36389418	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	2.812	-0.246815	0.05867	.	.	ENSG00000101425	ENST00000417318	.	.	.	4.02	-8.04	0.01110	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17592	-1.0364	4	.	.	.	-7.1243	3.9515	0.09371	0.1104:0.4736:0.2472:0.1689	.	.	.	.	L	222	.	.	P	+	2	0	BPI	36389418	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.211000	0.01226	-2.313000	0.00648	-0.355000	0.07637	CCA		0.577	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		T	36956004	C	T	36956004	2	4	225	1	0	0	0	0	0	0	0	1	1490	581	21	2		2	BPI	20	36956004	Silent	SNP	C	TCGA-24-1431-01A-01D-0472-08		36956004	26069516	28	12775											
TXNRD2	10587	broad.mit.edu	37	22	19902746	19902746	+	Nonsense_Mutation	SNP	G	G	C			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chr22:19902746G>C	ENST00000400521.1	-	7	588	c.582C>G	c.(580-582)taC>taG	p.Y194*	TXNRD2_ENST00000535882.1_Nonsense_Mutation_p.Y193*|TXNRD2_ENST00000334363.9_Nonsense_Mutation_p.Y194*|TXNRD2_ENST00000400518.1_Nonsense_Mutation_p.Y164*|TXNRD2_ENST00000542719.1_Nonsense_Mutation_p.Y164*|TXNRD2_ENST00000400519.1_Nonsense_Mutation_p.Y193*|TXNRD2_ENST00000491939.1_5'UTR	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	194					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.Y194*(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CGTGCGTGGGGTATCTCGGCC	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	22											53	63	60					22																	19902746		2058	4189	6247	18282746	SO:0001587	stop_gained	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.582C>G	22.37:g.19902746G>C	ENSP00000383365:p.Tyr194*		18282746	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Nonsense_Mutation	SNP	ENST00000400521.1	37	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308366	0.81247	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	.	.	.	4.58	3.42	0.39159	.	0.149123	0.46442	D	0.000295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9342	8.0235	0.30423	0.3317:0.0:0.6683:0.0	.	.	.	.	X	164;194;194;171;98;193;193;164;194	.	ENSP00000334451:Y194X	Y	-	3	2	TXNRD2	18282746	1.000000	0.71417	0.995000	0.50966	0.619000	0.37552	2.666000	0.46799	1.128000	0.42052	0.505000	0.49811	TAC		0.567	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		C	19902746	G	C	19902746	4	2	225	1	0	0	0	0	0	1	0	0	16808	1256	44	3	1036	3	TXNRD2	22	19902746	Nonsense_Mutation	SNP	G	TCGA-24-1431-01A-01D-0472-08		19902746	31401820	29	12776											
RAB9A	9367	broad.mit.edu	37	X	13727278	13727278	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chrX:13727278C>T	ENST00000464506.1	+	3	692	c.413C>T	c.(412-414)gCc>gTc	p.A138V	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	138					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A138V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ACAGAAGAAGCCCAAGCTTGG	0.453																																																1	Substitution - Missense(1)	ovary(1)	X											102	103	103					X																	13727278		2203	4300	6503	13637199	SO:0001583	missense	9367			U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"RAB, member RAS oncogene"	9792	protein-coding gene	gene with protein product		300284	"RAB9, member RAS oncogene family"	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.413C>T	X.37:g.13727278C>T	ENSP00000420127:p.Ala138Val		13637199	A8K390|Q6ICN1	Missense_Mutation	SNP	ENST00000464506.1	37	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576163	0.65878	.	.	ENSG00000123595	ENST00000464506	T	0.79653	-1.29	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	L	0.49778	1.585	0.80722	D	1	B	0.26318	0.146	B	0.28709	0.093	T	0.73091	-0.4092	9	.	.	.	-5.7751	18.4388	0.90656	0.0:1.0:0.0:0.0	.	138	P51151	RAB9A_HUMAN	V	138	ENSP00000420127:A138V	.	A	+	2	0	RAB9A	13637199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.618000	0.83043	2.296000	0.77279	0.594000	0.82650	GCC		0.453	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		T	13727278	C	T	13727278	3	4	225	1	0	0	0	0	1	0	0	0	12961	739	26	2	415	2	RAB9A	23	13727278	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08		13727278	141543282	30	12777											
ACOT9	23597	broad.mit.edu	37	X	23723953	23723953	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1431-01A-01D-0472-08	TCGA-24-1431-10A-01D-0472-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	c77ddff7-b3f0-47c7-bac1-dc8b4279bef5	4a04759c-2616-4ad7-95b3-c382bec6e10d	g.chrX:23723953C>A	ENST00000336430.7	-	11	969	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	ACOT9_ENST00000379303.5_Missense_Mutation_p.V289F|ACOT9_ENST00000379295.1_Missense_Mutation_p.V220F	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	280					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)	p.V280F(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						GAGGGTAAAACTCGACTCCGA	0.353																																																1	Substitution - Missense(1)	ovary(1)	X											105	116	112					X																	23723953		2203	4300	6503	23633874	SO:0001583	missense	23597			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.838G>T	X.37:g.23723953C>A	ENSP00000336580:p.Val280Phe		23633874	B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371273	0.61624	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295;ENST00000473710	T;T;T	0.33654	1.4;1.4;1.43	5.36	-0.547	0.11836	.	0.435922	0.27072	N	0.021073	T	0.40222	0.1108	M	0.62016	1.91	0.52501	D	0.999955	P;P;P	0.43909	0.821;0.586;0.534	P;B;P	0.48030	0.517;0.439;0.564	T	0.34153	-0.9840	10	0.62326	D	0.03	-6.966	10.7235	0.46055	0.0:0.4422:0.0:0.5578	.	247;280;289	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	F	289;280;220;206	ENSP00000368605:V289F;ENSP00000336580:V280F;ENSP00000368597:V220F	ENSP00000336580:V280F	V	-	1	0	ACOT9	23633874	0.273000	0.24181	0.982000	0.44146	0.959000	0.62525	-0.197000	0.09518	-0.216000	0.10048	-0.380000	0.06706	GTT		0.353	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		A	23723953	C	A	23723953	3	1	225	1	0	0	0	0	1	0	0	0	157	565	20	3	501	3	ACOT9	23	23723953	Missense_Mutation	SNP	C	TCGA-24-1431-01A-01D-0472-08	9996675	23723953	131546607	31	12778											
FLG	2312	broad.mit.edu	37	1	152282663	152282663	+	Missense_Mutation	SNP	G	G	A	rs529239965		TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr1:152282663G>A	ENST00000368799.1	-	3	4734	c.4699C>T	c.(4699-4701)Cgg>Tgg	p.R1567W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1567	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1567R(1)|p.R1567W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCGGCCCGAGTGGAAGGT	0.587									Ichthyosis				G|||	1	0.000199681	0	0	5008	,	,		19149	0		0.001	False		,,,				2504	0															2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	1											192	202	199					1																	152282663		2203	4300	6503	150549287	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4699C>T	1.37:g.152282663G>A	ENSP00000357789:p.Arg1567Trp		150549287	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.095	0.775402	0.16051	.	.	ENSG00000143631	ENST00000368799	T	0.03635	3.86	1.7	0.707	0.18139	.	.	.	.	.	T	0.01800	0.0057	N	0.17674	0.51	0.09310	N	1	D	0.76494	0.999	P	0.57324	0.818	T	0.45026	-0.9289	9	0.66056	D	0.02	.	3.8169	0.08819	0.2553:0.0:0.7447:0.0	.	1567	P20930	FILA_HUMAN	W	1567	ENSP00000357789:R1567W	ENSP00000357789:R1567W	R	-	1	2	FLG	150549287	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.537000	0.23144	0.056000	0.16144	0.485000	0.47835	CGG		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152282663	G	A	152282663	3	1	226	1	0	0	0	0	1	0	0	0	5922	1057	37	1	7490	1	FLG	1	152282663	Missense_Mutation	SNP	G	TCGA-24-1434-01A-01W-0545-08		152282663	96967958	1	12779											
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr1:152287816C>A	ENST00000368799.1	-	2	152	c.117G>T	c.(115-117)aaG>aaT	p.K39N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328									Ichthyosis																																							1	Substitution - Missense(1)	ovary(1)	1											174	178	177					1																	152287816		2203	4300	6503	150554440	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.117G>T	1.37:g.152287816C>A	ENSP00000357789:p.Lys39Asn		150554440	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810512	0.32053	.	.	ENSG00000143631	ENST00000368799	T	0.13307	2.6	5.2	-10.4	0.00318	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.03095	0.0091	L	0.27053	0.805	0.09310	N	1	P	0.47191	0.891	P	0.48677	0.586	T	0.10636	-1.0621	9	0.31617	T	0.26	0.2843	5.8155	0.18490	0.0953:0.1969:0.0949:0.6129	.	39	P20930	FILA_HUMAN	N	39	ENSP00000357789:K39N	ENSP00000357789:K39N	K	-	3	2	FLG	150554440	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.545000	0.00933	-1.947000	0.01034	-1.120000	0.02017	AAG		0.328	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152287816	C	A	152287816	3	1	226	1	0	0	0	0	1	0	0	0	5922	680	24	3	12076	3	FLG	1	152287816	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08	5153	152287816	96962805	2	12780											
RGS7	6000	broad.mit.edu	37	1	240977019	240977019	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr1:240977019A>T	ENST00000407727.1	-	12	854	c.855T>A	c.(853-855)agT>agA	p.S285R	RGS7_ENST00000331110.7_Missense_Mutation_p.S259R|RGS7_ENST00000446183.2_Missense_Mutation_p.S201R|RGS7_ENST00000366563.1_Missense_Mutation_p.S285R|RGS7_ENST00000366564.1_Missense_Mutation_p.S285R|RGS7_ENST00000366565.1_Missense_Mutation_p.S285R|RGS7_ENST00000348120.2_Missense_Mutation_p.S232R|RGS7_ENST00000366562.4_Missense_Mutation_p.S285R|RGS7_ENST00000401882.1_Missense_Mutation_p.S232R			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	285	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.S285R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTCCGTGTAACTTAGTAGAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											92	89	90					1																	240977019		2203	4300	6503	239043642	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.855T>A	1.37:g.240977019A>T	ENSP00000384428:p.Ser285Arg		239043642	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	A	14.50	2.553264	0.45487	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.76	3.36	0.38483	G-protein gamma domain (4);	0.210695	0.51477	D	0.000081	T	0.31638	0.0803	M	0.65498	2.005	0.30785	N	0.741579	P;P;P;B;P;B;P	0.48911	0.752;0.728;0.917;0.313;0.708;0.023;0.544	P;P;P;P;P;B;P	0.50896	0.555;0.653;0.642;0.522;0.522;0.061;0.653	T	0.31447	-0.9943	10	0.45353	T	0.12	-22.8466	4.3099	0.10965	0.6499:0.0:0.1999:0.1503	.	201;259;232;285;285;285;285	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	R	259;285;285;285;116;232;201;285;285;232	ENSP00000331485:S259R;ENSP00000355523:S285R;ENSP00000355522:S285R;ENSP00000355521:S285R;ENSP00000404399:S116R;ENSP00000341242:S232R;ENSP00000390138:S201R;ENSP00000355520:S285R;ENSP00000384428:S285R;ENSP00000385508:S232R	ENSP00000331485:S259R	S	-	3	2	RGS7	239043642	0.979000	0.34478	1.000000	0.80357	0.835000	0.47333	0.183000	0.16919	0.955000	0.37878	0.533000	0.62120	AGT		0.433	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		T	240977019	A	T	240977019	3	4	226	1	0	0	0	0	1	0	0	0	13313	40	2	5	632	5	RGS7	1	240977019	Missense_Mutation	SNP	A	TCGA-24-1434-01A-01W-0545-08	88689203	240977019	8273602	3	12781											
MITD1	129531	broad.mit.edu	37	2	99786056	99786056	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr2:99786056A>G	ENST00000289359.2	-	6	687	c.611T>C	c.(610-612)aTg>aCg	p.M204T	MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'Flank	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	204	Important for association with membranes.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.M204T(1)		large_intestine(3)|lung(2)|ovary(1)	6						AATCTTAATCATCCATCCATT	0.294																																																1	Substitution - Missense(1)	ovary(1)	2											64	68	67					2																	99786056		2203	4293	6496	99152488	SO:0001583	missense	129531			BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.611T>C	2.37:g.99786056A>G	ENSP00000289359:p.Met204Thr		99152488	Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066095	0.36470	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T	0.39997	1.07;1.05	5.64	4.46	0.54185	.	0.417145	0.31624	N	0.007327	T	0.27663	0.0680	N	0.25485	0.75	0.50467	D	0.999874	B	0.12013	0.005	B	0.08055	0.003	T	0.05835	-1.0861	10	0.14656	T	0.56	-0.7367	11.3488	0.49575	0.8642:0.0:0.0:0.1358	.	204	Q8WV92	MITD1_HUMAN	T	186;204;175	ENSP00000289359:M204T;ENSP00000387316:M175T	ENSP00000289359:M204T	M	-	2	0	MITD1	99152488	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.813000	0.62620	1.110000	0.41699	0.528000	0.53228	ATG		0.294	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		G	99786056	A	G	99786056	3	3	226	1	0	0	0	0	1	0	0	0	9595	217	8	4	146	4	MITD1	2	99786056	Missense_Mutation	SNP	A	TCGA-24-1434-01A-01W-0545-08		99786056	143413317	4	12782											
TTN	7273	broad.mit.edu	37	2	179612039	179612039	+	Intron	SNP	T	T	G			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr2:179612039T>G	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.T5030P|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T5030P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTAAAGGTGTGGAATATCTT	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											59	60	59					2																	179612039		2203	4300	6503	179320284	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5391A>C	2.37:g.179612039T>G			179320284	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.72	2.320985	0.41096	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59083	0.29	5.96	3.47	0.39725	.	.	.	.	.	T	0.51686	0.1689	M	0.62723	1.935	0.23809	N	0.996784	B	0.13145	0.007	B	0.14578	0.011	T	0.41106	-0.9527	9	0.27785	T	0.31	.	8.6229	0.33872	0.1284:0.0:0.1347:0.7368	.	5030	Q8WZ42-6	.	P	5030;344	ENSP00000354117:T5030P	ENSP00000304714:T344P	T	-	1	0	TTN	179320284	0.902000	0.30710	0.006000	0.13384	0.989000	0.77384	2.032000	0.41127	0.444000	0.26612	0.533000	0.62120	ACA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179612039	T	G	179612039	1	3	226	0	1	0	0	0	0	0	0	0	16735	1696	59	5		5	TTN	2	179612039	Intron	SNP	T	TCGA-24-1434-01A-01W-0545-08	79825983	179612039	63587334	5	12783											
DOCK3	1795	broad.mit.edu	37	3	51400103	51400103	+	Missense_Mutation	SNP	G	G	A	rs375984390		TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr3:51400103G>A	ENST00000266037.9	+	49	5314	c.5291G>A	c.(5290-5292)cGa>cAa	p.R1764Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1764	Ser-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1764Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCAGTGCCCGAGGTAAGGAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	3											45	46	46					3																	51400103		2033	4194	6227	51375143	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5291G>A	3.37:g.51400103G>A	ENSP00000266037:p.Arg1764Gln		51375143	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281009	0.95489	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.22134	1.97	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	M	0.72118	2.19	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.23868	-1.0176	10	0.11794	T	0.64	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	1764	Q8IZD9	DOCK3_HUMAN	Q	1764;560	ENSP00000266037:R1764Q	ENSP00000266037:R1764Q	R	+	2	0	DOCK3	51375143	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.395000	0.97266	2.605000	0.88082	0.563000	0.77884	CGA		0.562	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51400103	G	A	51400103	3	1	226	1	0	0	0	0	1	0	0	0	4688	1058	37	1	5485	1	DOCK3	3	51400103	Missense_Mutation	SNP	G	TCGA-24-1434-01A-01W-0545-08		51400103	146622327	6	12784											
CCDC52	152185	broad.mit.edu	37	3	113187693	113187693	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr3:113187693C>T	ENST00000295872.4	-	9	1064	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	269					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.E269K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GTAGATTCTTCAGGCTGAAGC	0.418																																																1	Substitution - Missense(1)	ovary(1)	3											96	86	89					3																	113187693		2203	4300	6503	114670383	SO:0001583	missense	152185			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.805G>A	3.37:g.113187693C>T	ENSP00000295872:p.Glu269Lys		114670383	D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675739	0.29783	.	.	ENSG00000163611	ENST00000295872	T	0.35605	1.3	5.05	4.18	0.49190	.	0.683462	0.15173	N	0.276533	T	0.39009	0.1062	M	0.64997	1.995	0.36419	D	0.864189	B;B	0.30634	0.288;0.137	B;B	0.29942	0.109;0.109	T	0.50849	-0.8779	10	0.72032	D	0.01	-8.2372	14.2705	0.66149	0.0:0.8513:0.1487:0.0	.	165;269	B3KX77;Q8N0Z3	.;SPICE_HUMAN	K	269	ENSP00000295872:E269K	ENSP00000295872:E269K	E	-	1	0	SPICE1	114670383	1.000000	0.71417	0.212000	0.23672	0.041000	0.13682	1.175000	0.31944	1.253000	0.44018	-0.226000	0.12346	GAA		0.418	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		T	113187693	C	T	113187693	3	4	226	1	0	0	0	0	1	0	0	0	2822	835	29	2	1802	2	CCDC52	3	113187693	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08	61787590	113187693	84834737	7	12785											
SIDT1	54847	broad.mit.edu	37	3	113327010	113327010	+	Silent	SNP	G	G	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr3:113327010G>A	ENST00000264852.4	+	16	2274	c.1548G>A	c.(1546-1548)ttG>ttA	p.L516L	SIDT1_ENST00000393830.3_Silent_p.L516L|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	516					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.L516L(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGATAGTCTTGCGCCGCGACA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	3											159	140	146					3																	113327010		2203	4300	6503	114809700	SO:0001819	synonymous_variant	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1548G>A	3.37:g.113327010G>A			114809700	Q17RR4	Silent	SNP	ENST00000264852.4	37	CCDS2974.1																																																																																				0.537	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		A	113327010	G	A	113327010	2	1	226	1	0	0	0	0	0	0	0	1	14305	1310	46	2		2	SIDT1	3	113327010	Silent	SNP	G	TCGA-24-1434-01A-01W-0545-08	139317	113327010	84695420	8	12786											
KIAA1109	84162	broad.mit.edu	37	4	123167884	123167884	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr4:123167884C>T	ENST00000264501.4	+	34	5604	c.5231C>T	c.(5230-5232)aCg>aTg	p.T1744M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T1744M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T1744M			Q2LD37	K1109_HUMAN	KIAA1109	1744					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T1744M(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTCCAACTACGGCTCCTAGT	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											128	126	127					4																	123167884		1872	4101	5973	123387334	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5231C>T	4.37:g.123167884C>T	ENSP00000264501:p.Thr1744Met		123387334	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.80|16.80	3.222785|3.222785	0.58668|0.58668	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.23147	.|2.5;2.5;1.92	6.1|6.1	5.26|5.26	0.73747|0.73747	.|.	.|0.674078	.|0.11514	.|U	.|0.556464	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.14661|0.14661	0.345|0.345	0.26886|0.26886	N|N	0.967421|0.967421	.|P;B	.|0.36733	.|0.567;0.349	.|B;B	.|0.29785	.|0.107;0.072	T|T	0.12192|0.12192	-1.0557|-1.0557	5|10	.|0.72032	.|D	.|0.01	.|.	13.0846|13.0846	0.59133|0.59133	0.0:0.8676:0.0:0.1324|0.0:0.8676:0.0:0.1324	.|.	.|1743;1744	.|Q2LD37-2;Q2LD37	.|.;K1109_HUMAN	W|M	317|1744	.|ENSP00000264501:T1744M;ENSP00000373390:T1744M;ENSP00000389925:T1744M	.|ENSP00000264501:T1744M	R|T	+|+	1|2	2|0	KIAA1109|KIAA1109	123387334|123387334	0.922000|0.922000	0.31269|0.31269	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	1.958000|1.958000	0.40402|0.40402	1.586000|1.586000	0.49944|0.49944	0.650000|0.650000	0.86243|0.86243	CGG|ACG		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123167884	C	T	123167884	3	4	226	1	0	0	0	0	1	0	0	0	8208	536	19	1	5357	1	KIAA1109	4	123167884	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08		123167884	67986392	9	12787											
TAS2R1	50834	broad.mit.edu	37	5	9629601	9629601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr5:9629601C>A	ENST00000382492.2	-	1	862	c.544G>T	c.(544-546)Gag>Tag	p.E182*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	182					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.E182*(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACTGAGAACTCAGCAACAAAA	0.428																																																1	Substitution - Nonsense(1)	ovary(1)	5											74	82	79					5																	9629601		2203	4300	6503	9682601	SO:0001587	stop_gained	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.544G>T	5.37:g.9629601C>A	ENSP00000371932:p.Glu182*		9682601	Q646G8	Nonsense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832636	0.91036	.	.	ENSG00000169777	ENST00000382492	.	.	.	5.4	3.59	0.41128	.	1.874700	0.02882	N	0.132952	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8491	0.35188	0.0:0.7663:0.1514:0.0823	.	.	.	.	X	182	.	.	E	-	1	0	TAS2R1	9682601	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.514000	0.22786	0.808000	0.34231	0.655000	0.94253	GAG		0.428	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			A	9629601	C	A	9629601	4	1	226	1	0	0	0	0	0	1	0	0	15565	835	29	3	359	3	TAS2R1	5	9629601	Nonsense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08		9629601	171285659	10	12788											
C5orf33	133686	broad.mit.edu	37	5	36197738	36197738	+	Silent	SNP	G	G	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr5:36197738G>A	ENST00000381937.4	-	11	1094	c.1095C>T	c.(1093-1095)ctC>ctT	p.L365L	NADK2_ENST00000397338.1_Silent_p.L202L|NADK2_ENST00000282512.3_Silent_p.L202L|NADK2_ENST00000514504.1_Silent_p.L333L|NADK2_ENST00000506945.1_Silent_p.L224L|NADK2_ENST00000511613.1_5'UTR	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	365					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)	p.L202L(1)									CCGGACTGTAGAGCAGTGATT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	5											74	69	71					5																	36197738		2203	4299	6502	36233495	SO:0001819	synonymous_variant	133686			BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.1095C>T	5.37:g.36197738G>A			36233495	B5MC93|Q6UTX5|Q96NM0	Silent	SNP	ENST00000381937.4	37	CCDS47197.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033298	0.19590	.	.	ENSG00000152620	ENST00000502355	.	.	.	5.44	-1.58	0.08479	.	.	.	.	.	T	0.55226	0.1907	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51284	-0.8725	4	.	.	.	-11.2326	9.8514	0.41059	0.0598:0.4919:0.3473:0.101	.	.	.	.	F	60	.	.	S	-	2	0	NADKD1	36233495	0.911000	0.30947	0.977000	0.42913	0.966000	0.64601	-0.200000	0.09478	-0.181000	0.10619	0.591000	0.81541	TCT		0.343	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		A	36197738	G	A	36197738	2	1	226	1	0	0	0	0	0	0	0	1	2292	929	33	2		2	C5orf33	5	36197738	Silent	SNP	G	TCGA-24-1434-01A-01W-0545-08	26568137	36197738	144717522	11	12789											
PCDHB4	56131	broad.mit.edu	37	5	140503174	140503174	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr5:140503174G>A	ENST00000194152.1	+	1	1594	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A532T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGTGGGCGCCTCAGACCG	0.667																																																1	Substitution - Missense(1)	ovary(1)	5											58	65	63					5																	140503174		2203	4298	6501	140483358	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1594G>A	5.37:g.140503174G>A	ENSP00000194152:p.Ala532Thr		140483358	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497869	0.85069	.	.	ENSG00000081818	ENST00000194152	T	0.75589	-0.95	3.88	3.88	0.44766	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.89836	0.6830	H	0.95712	3.71	0.53688	D	0.999978	D	0.89917	1.0	D	0.79784	0.993	D	0.93230	0.6616	9	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	532	Q9Y5E5	PCDB4_HUMAN	T	532	ENSP00000194152:A532T	ENSP00000194152:A532T	A	+	1	0	PCDHB4	140483358	1.000000	0.71417	0.986000	0.45419	0.829000	0.46940	9.415000	0.97375	2.189000	0.69895	0.485000	0.47835	GCC		0.667	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140503174	G	A	140503174	3	1	226	1	0	0	0	0	1	0	0	0	11544	1087	38	1	1596	1	PCDHB4	5	140503174	Missense_Mutation	SNP	G	TCGA-24-1434-01A-01W-0545-08	104305436	140503174	40412086	12	12790											
CPLX2	10814	broad.mit.edu	37	5	175306958	175306958	+	Silent	SNP	C	C	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr5:175306958C>T	ENST00000359546.4	+	5	958	c.315C>T	c.(313-315)tgC>tgT	p.C105C	CPLX2_ENST00000515094.1_Silent_p.C105C|CPLX2_ENST00000393745.3_Silent_p.C105C	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	105					cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)		p.C105C(1)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCGGGCTGCGGGGACGAGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	5											36	39	38					5																	175306958		2203	4300	6503	175239564	SO:0001819	synonymous_variant	10814			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.315C>T	5.37:g.175306958C>T			175239564	B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Silent	SNP	ENST00000359546.4	37	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	c	8.874	0.949997	0.18431	.	.	ENSG00000145920	ENST00000393746	.	.	.	5.14	0.437	0.16555	.	.	.	.	.	T	0.60945	0.2308	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60188	-0.7312	5	0.72032	D	0.01	.	7.5687	0.27894	0.0:0.2746:0.0:0.7254	.	.	.	.	W	87	.	ENSP00000377347:R87W	R	+	1	2	CPLX2	175239564	0.140000	0.22579	1.000000	0.80357	0.961000	0.63080	-0.524000	0.06222	0.125000	0.18397	0.454000	0.30748	CGG		0.627	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			T	175306958	C	T	175306958	2	4	226	1	0	0	0	0	0	0	0	1	3805	776	27	1		1	CPLX2	5	175306958	Silent	SNP	C	TCGA-24-1434-01A-01W-0545-08	34803784	175306958	5608302	13	12791											
TAP2	6891	broad.mit.edu	37	6	32803463	32803463	+	Silent	SNP	G	G	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr6:32803463G>T	ENST00000452392.2	-	4	869	c.696C>A	c.(694-696)tcC>tcA	p.S232S	TAP2_ENST00000374899.4_Silent_p.S232S|TAP2_ENST00000374897.2_Silent_p.S232S|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.S232S(1)								Vitamin E(DB00163)	GGCGCAGCAGGGAGGAGAAAA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	6											85	81	83					6																	32803463		1508	2708	4216	32911441	SO:0001819	synonymous_variant	6891			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.696C>A	6.37:g.32803463G>T			32911441	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37																																																																																					0.592	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		T	32803463	G	T	32803463	2	4	226	1	0	0	0	0	0	0	0	1	15551	1219	43	3		3	TAP2	6	32803463	Silent	SNP	G	TCGA-24-1434-01A-01W-0545-08		32803463	138311604	14	12792											
TTBK1	84630	broad.mit.edu	37	6	43251672	43251672	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr6:43251672C>G	ENST00000259750.4	+	14	3277	c.3194C>G	c.(3193-3195)aCg>aGg	p.T1065R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1065					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T1065R(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGGAGGACACGGGCTCGGAG	0.667																																																1	Substitution - Missense(1)	ovary(1)	6											24	23	24					6																	43251672		2174	4242	6416	43359650	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3194C>G	6.37:g.43251672C>G	ENSP00000259750:p.Thr1065Arg		43359650	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832358	0.50845	.	.	ENSG00000146216	ENST00000259750	T	0.58060	0.36	5.24	5.24	0.73138	.	0.361849	0.26804	N	0.022414	T	0.56277	0.1974	L	0.58101	1.795	0.80722	D	1	D	0.55800	0.973	P	0.54401	0.751	T	0.61352	-0.7080	10	0.72032	D	0.01	.	17.5926	0.88001	0.0:1.0:0.0:0.0	.	1065	Q5TCY1	TTBK1_HUMAN	R	1065	ENSP00000259750:T1065R	ENSP00000259750:T1065R	T	+	2	0	TTBK1	43359650	1.000000	0.71417	0.930000	0.37139	0.104000	0.19210	7.464000	0.80887	2.445000	0.82738	0.455000	0.32223	ACG		0.667	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			G	43251672	C	G	43251672	3	3	226	1	0	0	0	0	1	0	0	0	16676	536	19	3	3244	3	TTBK1	6	43251672	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08	10448209	43251672	127863395	15	12793											
EPHA7	2045	broad.mit.edu	37	6	94120434	94120434	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr6:94120434C>A	ENST00000369303.4	-	3	801	c.617G>T	c.(616-618)tGg>tTg	p.W206L	EPHA7_ENST00000369297.1_Missense_Mutation_p.W206L	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	206	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.W206L(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATAATGGACCAGCACTTCTT	0.438																																																1	Substitution - Missense(1)	ovary(1)	6											80	85	83					6																	94120434		2203	4300	6503	94177155	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.617G>T	6.37:g.94120434C>A	ENSP00000358309:p.Trp206Leu		94177155	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.457004	0.43634	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.70749	-0.51;4.52	5.66	5.66	0.87406	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	N	0.00347	-1.61	0.49798	D	0.999825	P;B;B;B	0.36535	0.557;0.001;0.002;0.001	B;B;B;B	0.32864	0.154;0.004;0.005;0.002	T	0.54957	-0.8215	10	0.56958	D	0.05	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	206;206;206;206	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	L	206	ENSP00000358309:W206L;ENSP00000358303:W206L	ENSP00000358303:W206L	W	-	2	0	EPHA7	94177155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.948000	0.56660	2.826000	0.97356	0.655000	0.94253	TGG		0.438	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			A	94120434	C	A	94120434	3	1	226	1	0	0	0	0	1	0	0	0	5172	595	21	3	2439	3	EPHA7	6	94120434	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08	50868762	94120434	76994633	16	12794											
KIAA0415	9907	broad.mit.edu	37	7	4823018	4823018	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr7:4823018G>C	ENST00000348624.4	+	4	532	c.438G>C	c.(436-438)gaG>gaC	p.E146D	AP5Z1_ENST00000401897.1_Missense_Mutation_p.E146D	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	146					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E857D(1)									GGCAGCCTGAGGGACCCAGCC	0.672																																																1	Substitution - Missense(1)	ovary(1)	7											34	45	41					7																	4823018		2051	4203	6254	4789544	SO:0001583	missense	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.438G>C	7.37:g.4823018G>C	ENSP00000297562:p.Glu146Asp		4789544	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823404	0.32237	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.63913	-0.07;0.87	4.9	3.05	0.35203	.	0.068454	0.64402	D	0.000006	T	0.56187	0.1968	M	0.62723	1.935	0.44241	D	0.997088	B	0.29805	0.257	B	0.33339	0.162	T	0.49652	-0.8917	10	0.37606	T	0.19	.	7.3524	0.26700	0.0924:0.1699:0.7377:0.0	.	146	O43299	K0415_HUMAN	D	146	ENSP00000297562:E146D;ENSP00000384980:E146D	ENSP00000297562:E146D	E	+	3	2	KIAA0415	4789544	1.000000	0.71417	0.978000	0.43139	0.513000	0.34164	1.647000	0.37260	0.455000	0.26910	0.462000	0.41574	GAG		0.672	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			C	4823018	G	C	4823018	3	2	226	1	0	0	0	0	1	0	0	0	8175	991	35	3	452	3	KIAA0415	7	4823018	Missense_Mutation	SNP	G	TCGA-24-1434-01A-01W-0545-08		4823018	154315645	17	12795											
ZAN	7455	broad.mit.edu	37	7	100364276	100364276	+	RNA	SNP	C	C	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr7:100364276C>T	ENST00000348028.3	+	0	4764				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1533G(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTATCTATGGCTGCCATGCCC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	7											29	31	30					7																	100364276		2045	4180	6225	100202212			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364276C>T			100202212	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37																																																																																					0.592	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100364276	C	T	100364276	1	4	226	0	1	0	0	0	0	0	0	0	17513	784	28	2		2	ZAN	7	100364276	RNA	SNP	C	TCGA-24-1434-01A-01W-0545-08	95541258	100364276	58774387	18	12796											
ZNF169	169841	broad.mit.edu	37	9	97062480	97062480	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr9:97062480C>T	ENST00000395395.2	+	5	730	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R214C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGCAGTCATACGTGGAAACTA	0.512																																																1	Substitution - Missense(1)	ovary(1)	9											63	57	59					9																	97062480		2203	4300	6503	96102301	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.640C>T	9.37:g.97062480C>T	ENSP00000378792:p.Arg214Cys		96102301	A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	C	8.441	0.850743	0.17034	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.07444	3.19	2.59	0.293	0.15742	.	.	.	.	.	T	0.01905	0.0060	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45220	-0.9276	9	0.31617	T	0.26	.	5.2952	0.15749	0.0:0.3123:0.0:0.6877	.	214	Q14929	ZN169_HUMAN	C	214;23	ENSP00000378792:R214C	ENSP00000340711:R23C	R	+	1	0	ZNF169	96102301	0.000000	0.05858	0.000000	0.03702	0.436000	0.31835	-0.048000	0.11944	0.056000	0.16144	-0.438000	0.05819	CGT		0.512	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		T	97062480	C	T	97062480	3	4	226	1	0	0	0	0	1	0	0	0	17742	536	19	1	654	1	ZNF169	9	97062480	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08		97062480	44150951	19	12797											
PLXDC2	84898	broad.mit.edu	37	10	20290850	20290850	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr10:20290850C>A	ENST00000377252.4	+	2	1100	c.259C>A	c.(259-261)Cct>Act	p.P87T	PLXDC2_ENST00000377242.3_Missense_Mutation_p.P87T	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	87					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P87T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCAAGACTCTCCTGAGCCCAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	10											80	69	73					10																	20290850		2203	4300	6503	20330856	SO:0001583	missense	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.259C>A	10.37:g.20290850C>A	ENSP00000366460:p.Pro87Thr		20330856	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	8.042	0.764152	0.15914	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.23754	2.0;1.89	5.9	-0.145	0.13436	.	0.828377	0.11364	N	0.571611	T	0.10981	0.0268	N	0.08118	0	0.58432	D	0.999995	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.12967	-1.0527	10	0.87932	D	0	.	2.8608	0.05586	0.2041:0.1965:0.476:0.1234	.	87;87	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	T	87;87;73	ENSP00000366460:P87T;ENSP00000366450:P87T	ENSP00000366450:P87T	P	+	1	0	PLXDC2	20330856	0.016000	0.18221	0.899000	0.35326	0.075000	0.17131	0.743000	0.26231	0.063000	0.16370	-0.182000	0.12963	CCT		0.493	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		A	20290850	C	A	20290850	3	1	226	1	0	0	0	0	1	0	0	0	12118	855	30	3	265	3	PLXDC2	10	20290850	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08		20290850	115243897	20	12798											
SYT8	90019	broad.mit.edu	37	11	1858460	1858460	+	Silent	SNP	G	G	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr11:1858460G>T	ENST00000381968.3	+	9	1133	c.1005G>T	c.(1003-1005)ctG>ctT	p.L335L	TNNI2_ENST00000381911.1_5'Flank|TNNI2_ENST00000252898.7_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381905.3_5'Flank|SYT8_ENST00000341958.3_Silent_p.L321L|TNNI2_ENST00000381906.1_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	335	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)	p.L335L(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCGCAGCCTGCCGCTCCGAA	0.677																																																1	Substitution - coding silent(1)	ovary(1)	11											25	28	27					11																	1858460		2197	4291	6488	1815036	SO:0001819	synonymous_variant	90019			AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.1005G>T	11.37:g.1858460G>T			1815036	A6NFJ4|Q9NSV9	Silent	SNP	ENST00000381968.3	37	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	g	0.040	-1.289817	0.01387	.	.	ENSG00000149043	ENST00000381978	.	.	.	3.61	-5.44	0.02624	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	.	2.0546	0.03578	0.5089:0.1162:0.1411:0.2338	.	.	.	.	S	334	.	.	A	+	1	0	SYT8	1815036	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.970000	0.03810	-0.923000	0.03785	-0.467000	0.05162	GCC		0.677	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			T	1858460	G	T	1858460	2	4	226	1	0	0	0	0	0	0	0	1	15480	1306	46	3		3	SYT8	11	1858460	Silent	SNP	G	TCGA-24-1434-01A-01W-0545-08		1858460	133148056	21	12799											
ACCSL	390110	broad.mit.edu	37	11	44069884	44069884	+	Missense_Mutation	SNP	G	G	A	rs201604433		TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr11:44069884G>A	ENST00000378832.1	+	1	354	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	100					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.D100N(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TCCTTCTGAGGACTCTAGGGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	11						G	ASN/ASP	0,3922		0,0,1961	82	86	85		298	2.8	0	11		85	1,8307		0,1,4153	yes	missense	ACCSL	NM_001031854.2	23	0,1,6114	AA,AG,GG		0.012,0.0,0.0082	benign	100/569	44069884	1,12229	1961	4154	6115	44026460	SO:0001583	missense	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.298G>A	11.37:g.44069884G>A	ENSP00000368109:p.Asp100Asn		44026460		Missense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251298	0.39797	0.0	1.2E-4	ENSG00000205126	ENST00000378832	T	0.69435	-0.4	4.67	2.77	0.32553	.	1.293030	0.04967	N	0.463128	T	0.62708	0.2450	L	0.50333	1.59	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.47898	-0.9081	10	0.40728	T	0.16	-4.0406	8.8557	0.35227	0.1878:0.0:0.8122:0.0	.	100	Q4AC99	1A1L2_HUMAN	N	100	ENSP00000368109:D100N	ENSP00000368109:D100N	D	+	1	0	ACCSL	44026460	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.316000	0.19469	0.496000	0.27904	0.655000	0.94253	GAC		0.562	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		A	44069884	G	A	44069884	3	1	226	1	0	0	0	0	1	0	0	0	134	1174	41	2	300	2	ACCSL	11	44069884	Missense_Mutation	SNP	G	TCGA-24-1434-01A-01W-0545-08	42211424	44069884	90936632	22	12800											
PACS1	55690	broad.mit.edu	37	11	66000503	66000503	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr11:66000503G>A	ENST00000320580.4	+	15	1837	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M	PACS1_ENST00000529757.1_Missense_Mutation_p.V138M	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	602					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.V602M(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GGTCCAGGCCGTGCTGTCCGC	0.627																																																1	Substitution - Missense(1)	ovary(1)	11											153	134	141					11																	66000503		2200	4295	6495	65757079	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1804G>A	11.37:g.66000503G>A	ENSP00000316454:p.Val602Met		65757079	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893877	0.91889	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.52057	0.68;0.68	4.56	4.56	0.56223	.	0.267572	0.35805	N	0.002969	T	0.62877	0.2464	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	T	0.66771	-0.5839	10	0.62326	D	0.03	-18.9632	16.263	0.82557	0.0:0.0:1.0:0.0	.	602	Q6VY07	PACS1_HUMAN	M	602;138	ENSP00000316454:V602M;ENSP00000432858:V138M	ENSP00000316454:V602M	V	+	1	0	PACS1	65757079	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	9.619000	0.98369	2.386000	0.81285	0.549000	0.68633	GTG		0.627	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		A	66000503	G	A	66000503	3	1	226	1	0	0	0	0	1	0	0	0	11372	1145	40	1	1862	1	PACS1	11	66000503	Missense_Mutation	SNP	G	TCGA-24-1434-01A-01W-0545-08	21930619	66000503	69006013	23	12801											
C11orf82	220042	broad.mit.edu	37	11	82625793	82625793	+	Nonsense_Mutation	SNP	C	C	T	rs147443808		TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr11:82625793C>T	ENST00000533655.1	+	3	225	c.13C>T	c.(13-15)Cga>Tga	p.R5*	C11orf82_ENST00000524921.1_Nonsense_Mutation_p.R5*|C11orf82_ENST00000525388.1_Nonsense_Mutation_p.R5*|C11orf82_ENST00000528759.1_Nonsense_Mutation_p.R5*|C11orf82_ENST00000525361.1_Nonsense_Mutation_p.R5*|C11orf82_ENST00000430323.2_Nonsense_Mutation_p.R5*|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		5					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R5*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GAACAGAAGACGAAAATTTCT	0.388													C|||	1	0.000199681	0	0	5008	,	,		19471	0		0	False		,,,				2504	0.001															1	Substitution - Nonsense(1)	ovary(1)	11						C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	109	101	104		13	2.9	1	11	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	C11orf82	NM_145018.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		5/999	82625793	2,13004	2203	4300	6503	82303441	SO:0001587	stop_gained	220042																														ENST00000533655.1:c.13C>T	11.37:g.82625793C>T	ENSP00000435421:p.Arg5*		82303441	Q96LK6|Q9H856	Nonsense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	38	6.813121	0.97857	2.27E-4	1.16E-4	ENSG00000165490	ENST00000532277;ENST00000524921;ENST00000528759;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000532589;ENST00000525388;ENST00000528262	.	.	.	5.26	2.89	0.33648	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1892	0.43017	0.6585:0.3415:0.0:0.0	.	.	.	.	X	5;5;5;5;5;5;66;5;5;5	.	.	R	+	1	2	C11orf82	82303441	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.631000	0.46502	0.301000	0.22738	-0.256000	0.11100	CGA		0.388	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			T	82625793	C	T	82625793	4	4	226	1	0	0	0	0	0	1	0	0	1665	528	19	1	15	1	C11orf82	11	82625793	Nonsense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08	16625290	82625793	52380723	24	12802											
EXPH5	23086	broad.mit.edu	37	11	108381960	108381960	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr11:108381960G>A	ENST00000265843.4	-	6	4384	c.4274C>T	c.(4273-4275)tCt>tTt	p.S1425F	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1237F|EXPH5_ENST00000428840.1_Missense_Mutation_p.S1349F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1418F	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1425					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.S1425F(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGGAAGACTAGAGGGACCACT	0.383																																																1	Substitution - Missense(1)	ovary(1)	11											108	108	108					11																	108381960		2201	4298	6499	107887170	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4274C>T	11.37:g.108381960G>A	ENSP00000265843:p.Ser1425Phe		107887170	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295784	0.23564	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.04119	3.92;3.85;3.7;3.92;3.74	4.99	1.88	0.25563	.	0.956277	0.08687	N	0.908607	T	0.04543	0.0124	L	0.35723	1.085	0.09310	N	1	B	0.17038	0.02	B	0.17098	0.017	T	0.43491	-0.9388	10	0.52906	T	0.07	-4.322	3.1567	0.06506	0.0921:0.1294:0.4985:0.28	.	1425	Q8NEV8	EXPH5_HUMAN	F	1425;1349;1237;1418;1349	ENSP00000265843:S1425F;ENSP00000391966:S1349F;ENSP00000411390:S1237F;ENSP00000432546:S1418F;ENSP00000432683:S1349F	ENSP00000265843:S1425F	S	-	2	0	EXPH5	107887170	0.001000	0.12720	0.016000	0.15963	0.654000	0.38779	0.960000	0.29253	0.501000	0.28013	0.591000	0.81541	TCT		0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		A	108381960	G	A	108381960	3	1	226	1	0	0	0	0	1	0	0	0	5322	942	33	2	1699	2	EXPH5	11	108381960	Missense_Mutation	SNP	G	TCGA-24-1434-01A-01W-0545-08	25756167	108381960	26624556	25	12803											
ATP5G2	517	broad.mit.edu	37	12	54059178	54059178	+	Missense_Mutation	SNP	C	C	T	rs374457649	byFrequency	TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr12:54059178C>T	ENST00000549164.1	-	5	533	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	ATP5G2_ENST00000602871.1_Missense_Mutation_p.A116T|ATP5G2_ENST00000338662.5_Missense_Mutation_p.A132T|ATP5G2_ENST00000394349.3_Missense_Mutation_p.A173T|ATP5G2_ENST00000550241.1_Intron			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	116					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.A132T(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CCCAGAATGGCGTAGGAGAAG	0.483													C|||	3	0.000599042	0.0015	0	5008	,	,		20103	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12						C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	62	64	63		394,517	5.3	1	12		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP5G2	NM_001002031.2,NM_005176.5	58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	132/158,173/199	54059178	2,13004	2203	4300	6503	52345445	SO:0001583	missense	517			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	842	protein-coding gene	gene with protein product		603193	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.346G>A	12.37:g.54059178C>T	ENSP00000447317:p.Ala116Thr		52345445	B3KQQ6	Missense_Mutation	SNP	ENST00000549164.1	37		.	.	.	.	.	.	.	.	.	.	C	26.2	4.713313	0.89112	2.27E-4	1.16E-4	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	T;T;T	0.44881	0.91;0.91;0.91	5.32	5.32	0.75619	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	L	0.52266	1.64	0.58432	D	0.999999	P;P;P	0.45348	0.492;0.856;0.659	B;B;B	0.32342	0.071;0.141;0.144	T	0.43294	-0.9400	10	0.62326	D	0.03	-12.6004	18.3142	0.90213	0.0:1.0:0.0:0.0	.	116;132;173	Q06055;Q06055-3;Q06055-2	AT5G2_HUMAN;.;.	T	173;116;132	ENSP00000377878:A173T;ENSP00000447317:A116T;ENSP00000340315:A132T	ENSP00000340315:A132T	A	-	1	0	ATP5G2	52345445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	2.941000	0.99782	0.655000	0.94253	GCC		0.483	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		T	54059178	C	T	54059178	3	4	226	1	0	0	0	0	1	0	0	0	1154	768	27	1	83	1	ATP5G2	12	54059178	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08		54059178	79792717	26	12804											
CRY1	1407	broad.mit.edu	37	12	107395141	107395141	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr12:107395141C>T	ENST00000008527.5	-	5	1468	c.601G>A	c.(601-603)Gat>Aat	p.D201N		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	201					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.D201N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCATCTGTATCAAAACCTACA	0.343																																																1	Substitution - Missense(1)	ovary(1)	12											85	88	87					12																	107395141		2203	4300	6503	105919271	SO:0001583	missense	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.601G>A	12.37:g.107395141C>T	ENSP00000008527:p.Asp201Asn		105919271		Missense_Mutation	SNP	ENST00000008527.5	37	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014792	0.75161	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.72	5.72	0.89469	DNA photolyase, N-terminal (1);	0.043473	0.85682	D	0.000000	T	0.69949	0.3168	M	0.78223	2.4	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	T	0.65150	-0.6238	9	0.25106	T	0.35	-24.6757	19.8689	0.96843	0.0:1.0:0.0:0.0	.	201	Q16526	CRY1_HUMAN	N	201	.	ENSP00000008527:D201N	D	-	1	0	CRY1	105919271	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.901000	0.56303	2.695000	0.91970	0.557000	0.71058	GAT		0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		T	107395141	C	T	107395141	3	4	226	1	0	0	0	0	1	0	0	0	3903	826	29	2	1191	2	CRY1	12	107395141	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08	53335963	107395141	26456754	27	12805											
GPR133	283383	broad.mit.edu	37	12	131466490	131466490	+	Silent	SNP	G	G	A	rs145796361	byFrequency	TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr12:131466490G>A	ENST00000261654.5	+	5	931	c.372G>A	c.(370-372)gcG>gcA	p.A124A	GPR133_ENST00000535015.1_Silent_p.A156A	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	124					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A124A(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCTTCTGCGTATGGGGGAC	0.507													g|||	8	0.00159744	8e-04	0.0043	5008	,	,		18530	0		0.001	False		,,,				2504	0.0031															1	Substitution - coding silent(1)	ovary(1)	12								0,4406		0,0,2203	134	124	127		372	-7.9	0	12	dbSNP_134	127	3,8597	3.7+/-12.6	0,3,4297	yes	coding-synonymous	GPR133	NM_198827.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		124/875	131466490	3,13003	2203	4300	6503	130032443	SO:0001819	synonymous_variant	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.372G>A	12.37:g.131466490G>A			130032443	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1																																																																																				0.507	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131466490	G	A	131466490	2	1	226	1	0	0	0	0	0	0	0	1	6643	1132	40	1		1	GPR133	12	131466490	Silent	SNP	G	TCGA-24-1434-01A-01W-0545-08	24071349	131466490	2385405	28	12806											
ZNF605	100289635	broad.mit.edu	37	12	133503655	133503655	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr12:133503655T>C	ENST00000360187.4	-	5	578	c.230A>G	c.(229-231)aAa>aGa	p.K77R	ZNF605_ENST00000331711.7_5'UTR|ZNF605_ENST00000392321.3_Missense_Mutation_p.K108R	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.K77R(1)		breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		ATTAAATATTTTTCCAAAAAC	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											1	1	1					12																	133503655		4	10	14	132013728	SO:0001583	missense	100289635			AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"Zinc fingers, C2H2-type", "-"	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.230A>G	12.37:g.133503655T>C	ENSP00000353314:p.Lys77Arg		132013728	B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	ENST00000360187.4	37	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	T	1.406	-0.576875	0.03854	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.11063	2.81;2.97	3.78	0.214	0.15249	Krueppel-associated box (1);	0.485574	0.15441	N	0.262201	T	0.09992	0.0245	L	0.60455	1.87	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24190	-1.0167	10	0.56958	D	0.05	.	4.6129	0.12411	0.0:0.2971:0.165:0.5379	.	108;77	B3KVG4;Q86T29	.;ZN605_HUMAN	R	77;108	ENSP00000353314:K77R;ENSP00000376135:K108R	ENSP00000353314:K77R	K	-	2	0	ZNF605	132013728	0.740000	0.28207	0.793000	0.32043	0.050000	0.14768	1.511000	0.35801	0.183000	0.20059	-0.415000	0.06103	AAA		0.338	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238		C	133503655	T	C	133503655	3	2	226	1	0	0	0	0	1	0	0	0	18031	1841	64	4	1699	4	ZNF605	12	133503655	Missense_Mutation	SNP	T	TCGA-24-1434-01A-01W-0545-08	2037165	133503655	348240	29	12807											
RNF17	56163	broad.mit.edu	37	13	25374504	25374504	+	Splice_Site	SNP	A	A	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr13:25374504A>T	ENST00000255324.5	+	13	1642	c.1590A>T	c.(1588-1590)ggA>ggT	p.G530G	RNF17_ENST00000255325.6_Splice_Site_p.G530G|RNF17_ENST00000381921.1_Splice_Site_p.G530G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	530					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G530G(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCTCCTAGAGTTGTTGATA	0.318																																																1	Substitution - coding silent(1)	ovary(1)	13											92	96	95					13																	25374504		2203	4300	6503	24272504	SO:0001630	splice_region_variant	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1590-1A>T	13.37:g.25374504A>T			24272504	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																				0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Silent	T	25374504	A	T	25374504	5	4	226	1	0	0	0	0	0	0	1	0	13464	318	11	5	1640	5	RNF17	13	25374504	Splice_Site	SNP	A	TCGA-24-1434-01A-01W-0545-08		25374504	89795374	30	12808											
PCDH9	5101	broad.mit.edu	37	13	67205409	67205409	+	Silent	SNP	G	G	A	rs372281341		TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr13:67205409G>A	ENST00000377865.2	-	3	3407	c.3273C>T	c.(3271-3273)gaC>gaT	p.D1091D	RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Silent_p.D1057D|PCDH9_ENST00000544246.1_Silent_p.D1091D|PCDH9_ENST00000456367.1_Silent_p.D1057D			Q9HC56	PCDH9_HUMAN	protocadherin 9	1091					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1091D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CATAGAATTCGTCCTGTGGCT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	13						G	,	1,4405	2.1+/-5.4	0,1,2202	127	116	120		3171,3273	5.6	1	13		120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PCDH9	NM_020403.4,NM_203487.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	1057/1204,1091/1238	67205409	2,13004	2203	4300	6503	66103410	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3273C>T	13.37:g.67205409G>A			66103410	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	CCDS9444.1																																																																																				0.537	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		A	67205409	G	A	67205409	2	1	226	1	0	0	0	0	0	0	0	1	11518	1136	40	1		1	PCDH9	13	67205409	Silent	SNP	G	TCGA-24-1434-01A-01W-0545-08	41830905	67205409	47964469	31	12809											
DOCK9	23348	broad.mit.edu	37	13	99452646	99452646	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr13:99452646C>G	ENST00000376460.1	-	53	5934	c.5854G>C	c.(5854-5856)Gac>Cac	p.D1952H	DOCK9_ENST00000339416.2_Missense_Mutation_p.D1939H	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1953	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCATCTCGTCAATGGCCACC	0.567																																																0			13											59	61	60					13																	99452646		2143	4248	6391	98250647	SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5854G>C	13.37:g.99452646C>G	ENSP00000365643:p.Asp1952His		98250647	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.8|28.8|28.8	4.950080|4.950080|4.950080	0.92660|0.92660|0.92660	.|.|.	.|.|.	ENSG00000088387|ENSG00000088387|ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453|ENST00000419908|ENST00000400228	T;T|.|.	0.17691|.|.	2.26;2.26|.|.	5.32|5.32|5.32	5.32|5.32|5.32	0.75619|0.75619|0.75619	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|.	0.85344|0.85344|.	0.5675|0.5675|.	M|M|M	0.89904|0.89904|0.89904	3.07|3.07|3.07	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;0.973;1.0;1.0|.|.	D;D;D;D;D;D|.|.	0.91635|.|.	0.999;0.998;0.995;0.93;0.999;0.998|.|.	D|D|.	0.87524|0.87524|.	0.2448|0.2448|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.3791|19.3791|19.3791	0.94525|0.94525|0.94525	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	658;571;1952;1953;608;570|.|.	B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4|.|.	.;.;.;DOCK9_HUMAN;.;.|.|.	H|F|S	1952;1953;1945;1930;1952;860;1939;570|355|514	ENSP00000365643:D1952H;ENSP00000341086:D1939H|.|.	ENSP00000341086:D1939H|.|.	D|L|X	-|-|-	1|3|2	0|2|2	DOCK9|DOCK9|DOCK9	98250647|98250647|98250647	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.995000|0.995000|0.995000	0.50966|0.50966|0.50966	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	7.445000|7.445000|7.445000	0.80570|0.80570|0.80570	2.644000|2.644000|2.644000	0.89710|0.89710|0.89710	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAC|TTG|TGA		0.567	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		G	99452646	C	G	99452646	3	3	226	1	0	0	0	0	1	0	0	0	4694	826	29	3	372	3	DOCK9	13	99452646	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08	32247237	99452646	15717232	32	12810											
OR4K13	390433	broad.mit.edu	37	14	20502317	20502317	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr14:20502317C>A	ENST00000315693.2	-	1	602	c.601G>T	c.(601-603)Gct>Tct	p.A201S	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A201S(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCACTGTCAGCAATGACCAGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	14											117	116	116					14																	20502317		2203	4300	6503	19572157	SO:0001583	missense	390433				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.601G>T	14.37:g.20502317C>A	ENSP00000319322:p.Ala201Ser		19572157	Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	7.762	0.705699	0.15172	.	.	ENSG00000176253	ENST00000315693	T	0.00130	8.69	3.46	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	U	0.001565	T	0.00109	0.0003	L	0.33485	1.01	0.22317	N	0.999202	B	0.19200	0.034	B	0.26864	0.074	T	0.09930	-1.0652	10	0.18276	T	0.48	.	10.0056	0.41955	0.3225:0.6775:0.0:0.0	.	201	Q8NH42	OR4KD_HUMAN	S	201	ENSP00000319322:A201S	ENSP00000319322:A201S	A	-	1	0	OR4K13	19572157	0.000000	0.05858	0.996000	0.52242	0.138000	0.21146	-1.059000	0.03479	1.757000	0.51966	0.514000	0.50259	GCT		0.488	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			A	20502317	C	A	20502317	3	1	226	1	0	0	0	0	1	0	0	0	11068	710	25	3	315	3	OR4K13	14	20502317	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08		20502317	86847223	33	12811											
MVP	9961	broad.mit.edu	37	16	29853155	29853155	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr16:29853155G>A	ENST00000357402.5	+	9	1568	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.R477Q	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	477					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.R477Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGAGAGAAGCGAGCCCGGTGA	0.667																																																1	Substitution - Missense(1)	ovary(1)	16											38	41	40					16																	29853155		2197	4300	6497	29760656	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1430G>A	16.37:g.29853155G>A	ENSP00000349977:p.Arg477Gln		29760656	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720193	0.30503	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.29917	1.55;1.55	5.92	-7.35	0.01422	.	0.776476	0.12489	N	0.464390	T	0.16128	0.0388	L	0.27053	0.805	0.09310	N	0.999993	B	0.34061	0.436	B	0.21151	0.033	T	0.00839	-1.1545	10	0.29301	T	0.29	-0.5316	17.3887	0.87424	0.838:0.0:0.162:0.0	.	477	Q14764	MVP_HUMAN	Q	477	ENSP00000349977:R477Q;ENSP00000378760:R477Q	ENSP00000349977:R477Q	R	+	2	0	MVP	29760656	0.004000	0.15560	0.066000	0.19879	0.307000	0.27823	-0.317000	0.08060	-1.477000	0.01872	-0.792000	0.03331	CGA		0.667	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		A	29853155	G	A	29853155	3	1	226	1	0	0	0	0	1	0	0	0	9996	1058	37	1	1460	1	MVP	16	29853155	Missense_Mutation	SNP	G	TCGA-24-1434-01A-01W-0545-08		29853155	60501598	34	12812											
TP53	7157	broad.mit.edu	37	17	7573995	7573995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	-	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr17:7573995delC	ENST00000269305.4	-	10	1221	c.1032delG	c.(1030-1032)ctgfs	p.L344fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.L344fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR	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	344	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		L -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|L -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L344fs*23(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.N345fs*25(1)|p.I332fs*5(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)	AGGCCTCATTCAGCTCTCGGA	0.567		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"	15	Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(1)|Deletion - In frame(1)	bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	17											64	49	54					17																	7573995		2203	4300	6503	7514720	SO:0001589	frameshift_variant	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.1032delG	17.37:g.7573995delC	ENSP00000269305:p.Leu344fs		7514720	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7573995	C	-	7573995	7	5	226	1	0	1	0	1	0	0	0	0	16381	813	29	0	157	0	TP53	17	7573995	Frame_Shift_Del	DEL	C	TCGA-24-1434-01A-01W-0545-08		7573995	73621215	35	12813											
DNM2	1785	broad.mit.edu	37	19	10897342	10897342	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr19:10897342C>T	ENST00000355667.6	+	7	1032	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	DNM2_ENST00000585892.1_Missense_Mutation_p.R318W|DNM2_ENST00000408974.4_Missense_Mutation_p.R318W|DNM2_ENST00000314646.5_Missense_Mutation_p.R318W|DNM2_ENST00000389253.4_Missense_Mutation_p.R318W|DNM2_ENST00000359692.6_Missense_Mutation_p.R318W	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	318					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.R318W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAAGAACTTTCGGCCCGACGA	0.622			"F, N, Splice, Mis, O"		ETP ALL																																		Rec	yes		19	19p13.2	1785	dynamin 2		L	1	Substitution - Missense(1)	ovary(1)	19											110	95	100					19																	10897342		2203	4300	6503	10758342	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.952C>T	19.37:g.10897342C>T	ENSP00000347890:p.Arg318Trp		10758342	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299892	0.95574	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.03	5.03	0.67393	Dynamin central domain (1);	0.125811	0.53938	D	0.000056	D	0.84656	0.5520	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.997;0.999;1.0	D;P;D;P;D	0.72982	0.967;0.842;0.916;0.842;0.979	D	0.87138	0.2201	10	0.87932	D	0	-0.4021	17.1447	0.86763	0.0:1.0:0.0:0.0	.	51;318;318;318;318	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	W	307;318;318;318;318;318	ENSP00000386192:R318W;ENSP00000347890:R318W;ENSP00000352721:R318W;ENSP00000373905:R318W;ENSP00000313164:R318W	ENSP00000313164:R318W	R	+	1	2	DNM2	10758342	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.858000	0.62947	2.325000	0.78763	0.655000	0.94253	CGG		0.622	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		T	10897342	C	T	10897342	3	4	226	1	0	0	0	0	1	0	0	0	4672	875	31	1	978	1	DNM2	19	10897342	Missense_Mutation	SNP	C	TCGA-24-1434-01A-01W-0545-08		10897342	48231641	36	12814											
KCNN1	3780	broad.mit.edu	37	19	18085960	18085960	+	Silent	SNP	G	G	T			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr19:18085960G>T	ENST00000222249.9	+	4	781	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	154					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.L171L(1)		endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CCATCCTGCTGGGTCTCGTTG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	19											101	105	104					19																	18085960		2091	4215	6306	17946960	SO:0001819	synonymous_variant	3780			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.462G>T	19.37:g.18085960G>T			17946960	Q5KR10|Q6DJU4	Silent	SNP	ENST00000222249.9	37																																																																																					0.582	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		T	18085960	G	T	18085960	2	4	226	1	0	0	0	0	0	0	0	1	8078	1335	47	3		3	KCNN1	19	18085960	Silent	SNP	G	TCGA-24-1434-01A-01W-0545-08	7188618	18085960	41043023	37	12815											
PSG1	5669	broad.mit.edu	37	19	43376096	43376096	+	Missense_Mutation	SNP	A	A	T	rs199602373		TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chr19:43376096A>T	ENST00000436291.2	-	3	648	c.532T>A	c.(532-534)Tac>Aac	p.Y178N	PSG1_ENST00000312439.6_Missense_Mutation_p.Y178N|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.Y178N|PSG1_ENST00000244296.2_Missense_Mutation_p.Y178N	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	178	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Y178N(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CACCACAGGTAGCTTGCGTCT	0.522																																																2	Substitution - Missense(2)	ovary(2)	19											259	248	252					19																	43376096		2201	4298	6499	48067936	SO:0001583	missense	5669				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.532T>A	19.37:g.43376096A>T	ENSP00000413041:p.Tyr178Asn		48067936	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	12.01	1.810474	0.32053	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.14022	2.54;2.54;2.54	1.46	1.46	0.22682	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38321	0.1036	M	0.90019	3.08	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.997;1.0;0.997;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.991;1.0;0.975;0.995;0.987;1.0;1.0	T	0.09840	-1.0656	9	0.87932	D	0	.	4.9592	0.14057	1.0:0.0:0.0:0.0	.	178;178;178;178;178;50;178;178	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	N	178	ENSP00000413041:Y178N;ENSP00000308970:Y178N;ENSP00000244296:Y178N	ENSP00000244296:Y178N	Y	-	1	0	PSG1	48067936	0.003000	0.15002	0.029000	0.17559	0.023000	0.10783	0.106000	0.15354	0.652000	0.30806	0.155000	0.16302	TAC		0.522	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			T	43376096	A	T	43376096	3	4	226	1	0	0	0	0	1	0	0	0	12656	420	15	5	796	5	PSG1	19	43376096	Missense_Mutation	SNP	A	TCGA-24-1434-01A-01W-0545-08	25290136	43376096	15752887	38	12816											
KDM5C	8242	broad.mit.edu	37	X	53239653	53239654	+	Frame_Shift_Ins	INS	-	-	A			TCGA-24-1434-01A-01W-0545-08	TCGA-24-1434-10A-01W-0545-08	-	-	A	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	8c741f68-df74-46cf-9eb6-a33e8fbe8c8c	e3f5481b-6fc0-42ae-9e04-743d41fcca9a	g.chrX:53239653_53239654insA	ENST00000375401.3	-	12	2220_2221	c.1688_1689insT	c.(1687-1689)ctcfs	p.L563fs	KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000452825.3_Frame_Shift_Ins_p.L496fs|KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.L563fs|KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.L562fs|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.L522fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	563	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.L564fs*58(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTTGGTGCAGGAGGTCAGGCTG	0.53			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Insertion - Frameshift(1)	ovary(1)	X																																								53256379	SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1689dupT	X.37:g.53239654_53239654dupA	ENSP00000364550:p.Leu563fs		53256378	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Ins	INS	ENST00000375401.3	37	CCDS14351.1																																																																																				0.53	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53239654	-	A	53239653	7	5	226	1	0	1	1	0	0	0	0	0	8135	1161	41	0	3151	0	KDM5C	23	53239653	Frame_Shift_Ins	INS	-	TCGA-24-1434-01A-01W-0545-08		53239653	102030907	39	12817											
GJB5	2709	genome.wustl.edu	37	1	35223670	35223670	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:35223670G>A	ENST00000338513.1	+	2	912	c.739G>A	c.(739-741)Gac>Aac	p.D247N	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	247					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.D247N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCTTTCGGGTGACCTCATCTT	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											128	109	116					1																	35223670		2203	4300	6503	34996257	SO:0001583	missense	2709			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.739G>A	1.37:g.35223670G>A	ENSP00000340811:p.Asp247Asn		34996257	Q9UPA3	Missense_Mutation	SNP	ENST00000338513.1	37	CCDS382.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276440	0.40294	.	.	ENSG00000189280	ENST00000338513	D	0.97731	-4.51	5.71	3.86	0.44501	.	0.490245	0.17011	U	0.190481	D	0.95548	0.8553	M	0.71581	2.175	0.32471	N	0.542803	P	0.34462	0.454	B	0.24974	0.057	D	0.93971	0.7249	10	0.21540	T	0.41	.	12.0513	0.53507	0.0954:0.0:0.9046:0.0	.	247	O95377	CXB5_HUMAN	N	247	ENSP00000340811:D247N	ENSP00000340811:D247N	D	+	1	0	GJB5	34996257	0.014000	0.17966	0.674000	0.29902	0.279000	0.26890	0.658000	0.24979	0.777000	0.33496	0.563000	0.77884	GAC		0.572	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		A	35223670	G	A	35223670	3	1	227	1	0	0	0	0	1	0	0	0	6411	1290	45	2	741	2	GJB5	1	35223670	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09		35223670	214026951	1	12818											
ST3GAL3	6487	genome.wustl.edu	37	1	44290497	44290497	+	Intron	SNP	C	C	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:44290497C>G	ENST00000361392.4	+	4	386				ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.P102A|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.P102A|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.P86A|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.P117A|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.P86A|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.P117A|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000531451.1_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.P117A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				tgcatcccaccctctagagat	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											71	71	71					1																	44290497		2203	4299	6502	44063084	SO:0001627	intron_variant	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.209+9892C>G	1.37:g.44290497C>G			44063084	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	7.703	0.693428	0.15039	.	.	ENSG00000126091	ENST00000262915;ENST00000372375;ENST00000351035;ENST00000361746;ENST00000372368;ENST00000372372	T;T;T;T;T;T	0.56103	0.53;0.53;0.48;0.53;0.53;0.48	2.47	0.482	0.16815	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.09310	N	1	B;B;B	0.19706	0.038;0.038;0.038	B;B;B	0.25140	0.012;0.012;0.058	T	0.32561	-0.9902	8	0.49607	T	0.09	.	2.7335	0.05234	0.2816:0.5558:0.0:0.1626	.	86;102;117	Q11203-19;Q11203-13;Q11203-4	.;.;.	A	117;102;86;117;102;86	ENSP00000262915:P117A;ENSP00000361450:P102A;ENSP00000316999:P86A;ENSP00000354657:P117A;ENSP00000361443:P102A;ENSP00000361447:P86A	ENSP00000262915:P117A	P	+	1	0	ST3GAL3	44063084	0.002000	0.14202	0.001000	0.08648	0.324000	0.28378	0.291000	0.18994	0.116000	0.18110	-0.293000	0.09583	CCT		0.473	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		G	44290497	C	G	44290497	1	3	227	0	1	0	0	0	0	0	0	0	15218	623	22	3		3	ST3GAL3	1	44290497	Intron	SNP	C	TCGA-24-1435-01A-01W-0549-09	9066827	44290497	204960124	2	12819											
COL24A1	255631	genome.wustl.edu	37	1	86497578	86497585	+	Frame_Shift_Del	DEL	CCGGAGGA	CCGGAGGA	-	rs370899727|rs187962051	byFrequency	TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	CCGGAGGA	CCGGAGGA	CCGGAGGA	-	CCGGAGGA	CCGGAGGA	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:86497578_86497585delCCGGAGGA	ENST00000370571.2	-	14	2391_2398	c.2025_2032delTCCTCCGG	c.(2023-2034)ggtcctccggggfs	p.GPPG675fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.GPPG675fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	675	Collagen-like 3.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P677T(1)|p.P676fs*5(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAGGAAACCCCGGAGGACCAGTGCCAC	0.327																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)	1																																								86270173	SO:0001589	frameshift_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2025_2032delTCCTCCGG	1.37:g.86497578_86497585delCCGGAGGA	ENSP00000359603:p.Gly675fs		86270166	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Frame_Shift_Del	DEL	ENST00000370571.2	37	CCDS41353.1																																																																																				0.327	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		-	86497585	CCGGAGGA	-	86497578	7	5	227	1	0	1	0	1	0	0	0	0	3683	623	22	0	3300	0	COL24A1	1	86497578	Frame_Shift_Del	DEL	CCGGAGGA	TCGA-24-1435-01A-01W-0549-09	42207081	86497578	162753043	3	12820											
ABCA4	24	genome.wustl.edu	37	1	94528774	94528774	+	Missense_Mutation	SNP	C	C	A	rs145525174	byFrequency	TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:94528774C>A	ENST00000370225.3	-	12	1740	c.1654G>T	c.(1654-1656)Gta>Tta	p.V552L	ABCA4_ENST00000535735.1_Missense_Mutation_p.V552L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	552			V -> I. {ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:19028736}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.V552L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGGGAATACCACTCCGGCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	1	GRCh37	CM074660	ABCA4	M	rs145525174						180	165	170					1																	94528774		2203	4300	6503	94301362	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1654G>T	1.37:g.94528774C>A	ENSP00000359245:p.Val552Leu		94301362	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742101	0.49151	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.97888	-4.59;-4.59	4.91	4.0	0.46444	.	0.208109	0.41823	D	0.000804	D	0.98292	0.9434	M	0.86420	2.815	0.49483	D	0.999791	D;B	0.76494	0.999;0.368	D;B	0.70016	0.967;0.196	D	0.98905	1.0778	10	0.72032	D	0.01	.	10.6485	0.45634	0.0:0.8457:0.0:0.1543	.	552;552	F5H6E5;P78363	.;ABCA4_HUMAN	L	552	ENSP00000359245:V552L;ENSP00000437682:V552L	ENSP00000359245:V552L	V	-	1	0	ABCA4	94301362	0.991000	0.36638	0.904000	0.35570	0.170000	0.22686	2.932000	0.48940	1.292000	0.44672	0.455000	0.32223	GTA		0.478	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94528774	C	A	94528774	3	1	227	1	0	0	0	0	1	0	0	0	34	507	18	3	5323	3	ABCA4	1	94528774	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	8031196	94528774	154721847	4	12821											
SLC16A4	9122	genome.wustl.edu	37	1	110923659	110923659	+	Silent	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:110923659C>T	ENST00000369779.4	-	5	720	c.471G>A	c.(469-471)ctG>ctA	p.L157L	LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000437429.2_Silent_p.L47L|SLC16A4_ENST00000369781.4_Silent_p.L157L|SLC16A4_ENST00000541986.1_Silent_p.L95L|SLC16A4_ENST00000472422.2_Silent_p.L109L	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	157					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.L157L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AAAGAAAAGTCAGTCCCATCC	0.398																																																1	Substitution - coding silent(1)	ovary(1)	1											117	113	114					1																	110923659		2203	4300	6503	110725182	SO:0001819	synonymous_variant	9122			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.471G>A	1.37:g.110923659C>T			110725182	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Silent	SNP	ENST00000369779.4	37	CCDS823.1																																																																																				0.398	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		T	110923659	C	T	110923659	2	4	227	1	0	0	0	0	0	0	0	1	14413	813	29	2		2	SLC16A4	1	110923659	Silent	SNP	C	TCGA-24-1435-01A-01W-0549-09	16394885	110923659	138326962	5	12822											
KCND3	3752	genome.wustl.edu	37	1	112329626	112329626	+	Silent	SNP	A	A	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:112329626A>G	ENST00000315987.2	-	3	1688	c.1209T>C	c.(1207-1209)gtT>gtC	p.V403V	KCND3_ENST00000302127.4_Silent_p.V403V|KCND3_ENST00000369697.1_Silent_p.V403V	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	403					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V403V(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TAAAGTTGGAAACAATCACAG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	1											127	117	120					1																	112329626		2203	4300	6503	112131149	SO:0001819	synonymous_variant	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1209T>C	1.37:g.112329626A>G			112131149	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	CCDS843.1																																																																																				0.537	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		G	112329626	A	G	112329626	2	3	227	1	0	0	0	0	0	0	0	1	8020	1	1	4		4	KCND3	1	112329626	Silent	SNP	A	TCGA-24-1435-01A-01W-0549-09	1405967	112329626	136920995	6	12823											
ARHGAP30	257106	genome.wustl.edu	37	1	161022312	161022312	+	Silent	SNP	G	G	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:161022312G>A	ENST00000368013.3	-	8	1178	c.858C>T	c.(856-858)gtC>gtT	p.V286V	ARHGAP30_ENST00000368016.3_Silent_p.V286V|ARHGAP30_ENST00000368015.1_Silent_p.V109V	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	286					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.V286V(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCCACTTCCTGACCTTCAAAG	0.547																																																2	Substitution - coding silent(2)	ovary(2)	1											170	184	179					1																	161022312		2203	4300	6503	159288936	SO:0001819	synonymous_variant	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.858C>T	1.37:g.161022312G>A			159288936	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	CCDS30918.1																																																																																				0.547	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		A	161022312	G	A	161022312	2	1	227	1	0	0	0	0	0	0	0	1	879	1277	45	2		2	ARHGAP30	1	161022312	Silent	SNP	G	TCGA-24-1435-01A-01W-0549-09	48692686	161022312	88228309	7	12824											
USP21	27005	genome.wustl.edu	37	1	161130804	161130804	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:161130804C>T	ENST00000289865.8	+	2	595	c.374C>T	c.(373-375)gCc>gTc	p.A125V	USP21_ENST00000368001.1_Missense_Mutation_p.A125V|USP21_ENST00000368002.3_Missense_Mutation_p.A125V|RP11-297K8.2_ENST00000420498.1_RNA	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	125					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A125V(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGGGGATTGCCTTGGGAGGG	0.632																																																1	Substitution - Missense(1)	ovary(1)	1											84	78	80					1																	161130804		2203	4300	6503	159397428	SO:0001583	missense	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.374C>T	1.37:g.161130804C>T	ENSP00000289865:p.Ala125Val		159397428	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324587	0.81580	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.47177	0.85;0.85;0.85	5.14	5.14	0.70334	.	1.477390	0.03973	N	0.292028	T	0.24084	0.0583	N	0.14661	0.345	0.36502	D	0.869072	P	0.43024	0.798	B	0.36289	0.221	T	0.25467	-1.0131	10	0.54805	T	0.06	.	17.538	0.87839	0.0:1.0:0.0:0.0	.	125	Q9UK80	UBP21_HUMAN	V	125	ENSP00000356981:A125V;ENSP00000289865:A125V;ENSP00000356980:A125V	ENSP00000289865:A125V	A	+	2	0	USP21	159397428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.934000	0.28910	2.666000	0.90696	0.561000	0.74099	GCC		0.632	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			T	161130804	C	T	161130804	3	4	227	1	0	0	0	0	1	0	0	0	17053	739	26	2	376	2	USP21	1	161130804	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	108492	161130804	88119817	8	12825											
MPZ	4359	genome.wustl.edu	37	1	161275956	161275956	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:161275956G>C	ENST00000533357.1	-	5	653	c.587C>G	c.(586-588)gCt>gGt	p.A196G	MPZ_ENST00000360451.6_Missense_Mutation_p.A206G|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.A196G	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	196					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.A206G(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTTCTCCATAGCACTGCAAGA	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											110	110	110					1																	161275956		2203	4300	6503	159542580	SO:0001583	missense	4359			BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"Immunoglobulin superfamily / V-set domain containing"	7225	protein-coding gene	gene with protein product		159440	"Charcot-Marie-Tooth neuropathy 1B"	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.587C>G	1.37:g.161275956G>C	ENSP00000432943:p.Ala196Gly		159542580	Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	ENST00000533357.1	37	CCDS1229.2	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245067	0.59103	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	D;D;D	0.92099	-2.97;-2.97;-2.97	4.45	3.51	0.40186	Myelin-PO, C-terminal (1);	0.082794	0.47093	D	0.000249	D	0.84781	0.5548	L	0.27053	0.805	0.35452	D	0.795783	D	0.56287	0.975	P	0.56042	0.79	T	0.81497	-0.0906	9	0.19147	T	0.46	-20.2103	9.7758	0.40618	0.0:0.0:0.7946:0.2054	.	196	P25189	MYP0_HUMAN	G	196;206;196	ENSP00000432943:A196G;ENSP00000353634:A206G;ENSP00000337777:A196G	ENSP00000337777:A196G	A	-	2	0	MPZ	159542580	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.353000	0.66034	1.181000	0.42912	0.655000	0.94253	GCT		0.607	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		C	161275956	G	C	161275956	3	2	227	1	0	0	0	0	1	0	0	0	9748	971	34	3	167	3	MPZ	1	161275956	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	145152	161275956	87974665	9	12826											
NCF2	4688	genome.wustl.edu	37	1	183529377	183529378	+	Missense_Mutation	DNP	TC	TC	GT			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	TC	TC	TC	GT	TC	TC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:183529377_183529378TC>GT	ENST00000367535.3	-	14	1572_1573	c.1321_1322GA>AC	c.(1321-1323)GAa>ACa	p.E441T	NCF2_ENST00000413720.1_Missense_Mutation_p.E396T|NCF2_ENST00000367536.1_Missense_Mutation_p.E441T|NCF2_ENST00000418089.1_Missense_Mutation_p.E360T|NCF2_ENST00000469280.1_5'Flank	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	441					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TTTTTCACTTTCCTTGGGTTCA	0.441																																																0			1																																								181796001	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1321_1322delinsGT	1.37:g.183529377_183529378delinsGT	ENSP00000356505:p.Glu441Thr		181796000	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	DNP	ENST00000367535.3	37	CCDS1356.1																																																																																				0.441	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		GT	183529378	TC	GT	183529377	3	3	227	1	0	0	0	0	1	0	0	0	10217	1783	62	5	266	5	NCF2	1	183529377	Missense_Mutation	DNP	TC	TCGA-24-1435-01A-01W-0549-09	22253421	183529377	65721244	10	12827											
PPFIA4	8497	genome.wustl.edu	37	1	203033069	203033069	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:203033069G>A	ENST00000447715.2	+	30	3363	c.2922G>A	c.(2920-2922)atG>atA	p.M974I	PPFIA4_ENST00000295706.4_Missense_Mutation_p.M481I|PPFIA4_ENST00000414050.2_Missense_Mutation_p.M703I|PPFIA4_ENST00000367240.2_Missense_Mutation_p.M975I|PPFIA4_ENST00000599966.1_Missense_Mutation_p.M481I|PPFIA4_ENST00000272198.6_Missense_Mutation_p.M490I			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	974	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.M1120I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACGCCCGCATGCTGGACCACC	0.632																																																1	Substitution - Missense(1)	ovary(1)	1											43	50	48					1																	203033069		2201	4300	6501	201299692	SO:0001583	missense	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2922G>A	1.37:g.203033069G>A	ENSP00000402576:p.Met974Ile		201299692	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	G	35	5.588079	0.96590	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.14	5.14	0.70334	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	U	0.000090	T	0.70474	0.3228	M	0.85710	2.77	0.80722	D	1	B;D;B;B;P	0.54772	0.415;0.968;0.276;0.451;0.507	B;P;B;B;B	0.60286	0.184;0.872;0.339;0.162;0.25	T	0.75130	-0.3426	10	0.62326	D	0.03	-25.44	18.7744	0.91904	0.0:0.0:1.0:0.0	.	703;974;176;481;490	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	I	975;974;481;703;490	ENSP00000356209:M975I;ENSP00000402576:M974I;ENSP00000295706:M481I;ENSP00000400379:M703I;ENSP00000272198:M490I	ENSP00000272198:M490I	M	+	3	0	PPFIA4	201299692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.668000	0.90789	0.650000	0.86243	ATG		0.632	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		A	203033069	G	A	203033069	3	1	227	1	0	0	0	0	1	0	0	0	12312	1319	46	2	1516	2	PPFIA4	1	203033069	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	19503692	203033069	46217552	11	12828											
KMO	8564	genome.wustl.edu	37	1	241731804	241731804	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:241731804C>A	ENST00000366559.4	+	10	1125	c.814C>A	c.(814-816)Ctc>Atc	p.L272I	KMO_ENST00000366558.3_Missense_Mutation_p.L272I|KMO_ENST00000366557.4_Missense_Mutation_p.L272I	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.L272I(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTGAAGGAAACTCCTAGTGCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											152	148	149					1																	241731804		2203	4300	6503	239798427	SO:0001583	missense	8564			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.814C>A	1.37:g.241731804C>A	ENSP00000355517:p.Leu272Ile		239798427		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	7.194	0.592021	0.13812	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51574	0.7;0.7;0.7	5.8	2.94	0.34122	Monooxygenase, FAD-binding (1);	0.336766	0.34411	N	0.003985	T	0.32556	0.0833	N	0.24115	0.695	0.22305	N	0.999218	B;B;B	0.26258	0.145;0.087;0.12	B;B;B	0.33620	0.167;0.167;0.104	T	0.21690	-1.0238	10	0.37606	T	0.19	.	6.2508	0.20845	0.1669:0.1591:0.674:0.0	.	272;272;272	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	I	272	ENSP00000355517:L272I;ENSP00000355516:L272I;ENSP00000355515:L272I	ENSP00000355515:L272I	L	+	1	0	KMO	239798427	1.000000	0.71417	0.805000	0.32314	0.011000	0.07611	2.039000	0.41193	0.383000	0.24910	-0.171000	0.13296	CTC		0.363	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		A	241731804	C	A	241731804	3	1	227	1	0	0	0	0	1	0	0	0	8424	565	20	3	852	3	KMO	1	241731804	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	38698735	241731804	7518817	12	12829											
AHCTF1	25909	genome.wustl.edu	37	1	247071042	247071042	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr1:247071042C>G	ENST00000391829.2	-	5	698	c.575G>C	c.(574-576)gGt>gCt	p.G192A	AHCTF1_ENST00000366508.1_Missense_Mutation_p.G227A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G201A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	192	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G192A(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGCTGGGATACCAGTTAGAAC	0.373																																					Colon(145;197 1800 4745 15099 26333)											1	Substitution - Missense(1)	ovary(1)	1											93	88	90					1																	247071042		2203	4300	6503	245137665	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.575G>C	1.37:g.247071042C>G	ENSP00000375705:p.Gly192Ala		245137665	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	C	18.87	3.715383	0.68844	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.49139	0.79;0.79;0.79	5.86	5.86	0.93980	.	0.098601	0.64402	D	0.000001	T	0.64046	0.2563	L	0.51422	1.61	0.46096	D	0.998868	D;D	0.65815	0.995;0.981	D;P	0.63957	0.92;0.76	T	0.58725	-0.7586	10	0.45353	T	0.12	-23.1527	20.5632	0.99335	0.0:1.0:0.0:0.0	.	227;192	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	227;201;192	ENSP00000355464:G227A;ENSP00000355465:G201A;ENSP00000375705:G192A	ENSP00000355465:G201A	G	-	2	0	AHCTF1	245137665	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	5.677000	0.68142	2.937000	0.99478	0.650000	0.86243	GGT		0.373	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		G	247071042	C	G	247071042	3	3	227	1	0	0	0	0	1	0	0	0	408	507	18	3	6353	3	AHCTF1	1	247071042	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	5339238	247071042	2179579	13	12830											
APOB	338	genome.wustl.edu	37	2	21235160	21235160	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr2:21235160A>T	ENST00000233242.1	-	26	4707	c.4580T>A	c.(4579-4581)cTc>cAc	p.L1527H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1527					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L1527H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCCTTGGAGGTAGGAGGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											121	123	123					2																	21235160		2203	4300	6503	21088665	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4580T>A	2.37:g.21235160A>T	ENSP00000233242:p.Leu1527His		21088665	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.181585	0.78677	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01076	5.37	5.88	5.88	0.94601	.	1.077840	0.07220	N	0.860701	T	0.03520	0.0101	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.59611	-0.7422	10	0.87932	D	0	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	1527	P04114	APOB_HUMAN	H	1527	ENSP00000233242:L1527H	ENSP00000233242:L1527H	L	-	2	0	APOB	21088665	1.000000	0.71417	0.908000	0.35775	0.994000	0.84299	8.842000	0.92136	2.246000	0.74042	0.533000	0.62120	CTC		0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21235160	A	T	21235160	3	4	227	1	0	0	0	0	1	0	0	0	785	304	11	5	9127	5	APOB	2	21235160	Missense_Mutation	SNP	A	TCGA-24-1435-01A-01W-0549-09		21235160	221964213	14	12831											
NLRC4	58484	genome.wustl.edu	37	2	32475438	32475438	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr2:32475438C>A	ENST00000404025.2	-	5	1983	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	NLRC4_ENST00000402280.1_Missense_Mutation_p.V499L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.V499L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	499					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.V499L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTGGCTTCCACAGATGACCCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											66	64	65					2																	32475438		2203	4300	6503	32328942	SO:0001583	missense	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1495G>T	2.37:g.32475438C>A	ENSP00000385090:p.Val499Leu		32328942	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	0.181	-1.062440	0.01950	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.10099	2.91;2.91;2.91	3.4	-4.83	0.03161	.	2.131760	0.02374	N	0.078168	T	0.05502	0.0145	N	0.08118	0	0.22213	N	0.999281	B	0.12013	0.005	B	0.08055	0.003	T	0.34900	-0.9810	9	0.25751	T	0.34	.	8.1166	0.30946	0.0:0.2521:0.1215:0.6264	.	499	Q9NPP4	NLRC4_HUMAN	L	499	ENSP00000354159:V499L;ENSP00000385428:V499L;ENSP00000385090:V499L	ENSP00000354159:V499L	V	-	1	0	NLRC4	32328942	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.269000	0.02834	-1.130000	0.02914	-0.300000	0.09419	GTG		0.532	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		A	32475438	C	A	32475438	3	1	227	1	0	0	0	0	1	0	0	0	10469	478	17	3	1603	3	NLRC4	2	32475438	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	11240278	32475438	210723935	15	12832											
DYNC2LI1	51626	genome.wustl.edu	37	2	44010664	44010664	+	Silent	SNP	G	G	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr2:44010664G>A	ENST00000260605.8	+	3	232	c.132G>A	c.(130-132)aaG>aaA	p.K44K	DYNC2LI1_ENST00000398823.2_Silent_p.K44K|DYNC2LI1_ENST00000605786.1_Silent_p.K44K|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000406852.3_Silent_p.K44K|DYNC2LI1_ENST00000443170.3_5'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	44					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.K44K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCCAGGGAAAGACTACTATTA	0.299																																																1	Substitution - coding silent(1)	ovary(1)	2											130	142	138					2																	44010664		2203	4293	6496	43864168	SO:0001819	synonymous_variant	51626				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"Cytoplasmic dyneins"	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.132G>A	2.37:g.44010664G>A			43864168	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Silent	SNP	ENST00000260605.8	37	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835930	0.32421	.	.	ENSG00000138036	ENST00000378587	.	.	.	5.85	4.07	0.47477	.	.	.	.	.	T	0.59459	0.2195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55108	-0.8192	4	.	.	.	-15.7147	9.4488	0.38714	0.2162:0.0:0.7838:0.0	.	.	.	.	K	28	.	.	R	+	2	0	DYNC2LI1	43864168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.808000	0.38912	0.824000	0.34613	0.561000	0.74099	AGA		0.299	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		A	44010664	G	A	44010664	2	1	227	1	0	0	0	0	0	0	0	1	4847	933	33	2		2	DYNC2LI1	2	44010664	Silent	SNP	G	TCGA-24-1435-01A-01W-0549-09	11535226	44010664	199188709	16	12833											
LHCGR	3973	genome.wustl.edu	37	2	48915723	48915723	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr2:48915723C>T	ENST00000294954.7	-	11	1234	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	LHCGR_ENST00000403273.1_Splice_Site|LHCGR_ENST00000405626.1_Missense_Mutation_p.D378N|LHCGR_ENST00000401907.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.D343N	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	405					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.D405N(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATGCAAAAGTCTGCAAAGGAG	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											68	67	67					2																	48915723		2203	4300	6503	48769227	SO:0001583	missense	3973				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1213G>A	2.37:g.48915723C>T	ENSP00000294954:p.Asp405Asn		48769227	Q14751|Q15996|Q9UEW9	Splice_Site	SNP	ENST00000294954.7	37	CCDS1842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.099407|4.099407	0.76983|0.76983	.|.	.|.	ENSG00000138039|ENSG00000138039	ENST00000403273|ENST00000344775;ENST00000294954;ENST00000405626	.|D;D;D	.|0.88431	.|-2.38;-2.38;-2.38	5.91|5.91	5.91|5.91	0.95273|0.95273	.|GPCR, rhodopsin-like superfamily (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96374	.|0.8817	H|H	0.94183|0.94183	3.505|3.505	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.91635	.|0.999	.|D	.|0.96883	.|0.9647	.|9	.|.	.|.	.|.	.|.	19.2939|19.2939	0.94114|0.94114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|405	.|P22888	.|LSHR_HUMAN	.|N	-1|343;405;378	.|ENSP00000344301:D343N;ENSP00000294954:D405N;ENSP00000386033:D378N	.|.	.|D	-|-	.|1	.|0	LHCGR|LHCGR	48769227|48769227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.086000|6.086000	0.71352|0.71352	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	.|GAC		0.468	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		T	48915723	C	T	48915723	3	4	227	1	0	0	0	0	1	0	0	0	8762	913	32	2	890	2	LHCGR	2	48915723	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	4905059	48915723	194283650	17	12834											
VWA3B	200403	genome.wustl.edu	37	2	98804464	98804464	+	Silent	SNP	A	A	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr2:98804464A>C	ENST00000477737.1	+	10	1542	c.1338A>C	c.(1336-1338)gcA>gcC	p.A446A	VWA3B_ENST00000451075.2_Silent_p.A296A|VWA3B_ENST00000435344.1_Silent_p.A446A	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	446								p.A446A(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGTCCATGCAAAATATTGCA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	2											82	81	81					2																	98804464		1934	4146	6080	98170896	SO:0001819	synonymous_variant	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1338A>C	2.37:g.98804464A>C			98170896	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	CCDS42718.1																																																																																				0.483	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		C	98804464	A	C	98804464	2	2	227	1	0	0	0	0	0	0	0	1	17241	117	5	5		5	VWA3B	2	98804464	Silent	SNP	A	TCGA-24-1435-01A-01W-0549-09	49888741	98804464	144394909	18	12835											
LCT	3938	genome.wustl.edu	37	2	136570088	136570088	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr2:136570088C>G	ENST00000264162.2	-	7	2156	c.2146G>C	c.(2146-2148)Gtg>Ctg	p.V716L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	716	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.V716M(1)|p.V716L(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGGGGCCACACATGGTTCACG	0.532																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	2											101	98	99					2																	136570088		2203	4300	6503	136286558	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2146G>C	2.37:g.136570088C>G	ENSP00000264162:p.Val716Leu		136286558	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350174	0.24512	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50001	0.76	5.66	-1.98	0.07480	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.804728	0.11825	N	0.525814	T	0.23014	0.0556	N	0.10685	0.025	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.13098	-1.0522	10	0.38643	T	0.18	-0.0567	6.1383	0.20245	0.5152:0.2361:0.0:0.2487	.	716	P09848	LPH_HUMAN	L	716;148	ENSP00000264162:V716L	ENSP00000264162:V716L	V	-	1	0	LCT	136286558	0.014000	0.17966	0.000000	0.03702	0.823000	0.46562	0.003000	0.13083	-0.797000	0.04450	0.655000	0.94253	GTG		0.532	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		G	136570088	C	G	136570088	3	3	227	1	0	0	0	0	1	0	0	0	8693	478	17	3	3681	3	LCT	2	136570088	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	37765624	136570088	106629285	19	12836											
LRP1B	53353	genome.wustl.edu	37	2	141458145	141458145	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr2:141458145C>T	ENST00000389484.3	-	41	7444	c.6473G>A	c.(6472-6474)tGt>tAt	p.C2158Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2158	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.C2158Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCGATAAAGACAGAGTTGCTT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											114	112	112					2																	141458145		2203	4300	6503	141174615	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6473G>A	2.37:g.141458145C>T	ENSP00000374135:p.Cys2158Tyr		141174615	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200071	0.79015	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99955	-8.88	4.47	4.47	0.54385	Epidermal growth factor-like (1);	0.000000	0.85682	U	0.000000	D	0.99967	0.9988	H	0.99143	4.445	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.96534	0.9395	10	0.87932	D	0	.	17.4918	0.87705	0.0:1.0:0.0:0.0	.	2158	Q9NZR2	LRP1B_HUMAN	Y	2158;2096	ENSP00000374135:C2158Y	ENSP00000374135:C2158Y	C	-	2	0	LRP1B	141174615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.710000	0.84655	2.176000	0.68965	0.585000	0.79938	TGT		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141458145	C	T	141458145	3	4	227	1	0	0	0	0	1	0	0	0	8955	478	17	2	7530	2	LRP1B	2	141458145	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	4888057	141458145	101741228	20	12837											
SLC6A6	6533	genome.wustl.edu	37	3	14523332	14523332	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr3:14523332G>C	ENST00000454876.2	+	14	2034	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	SLC6A6_ENST00000360861.3_Missense_Mutation_p.E569Q			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	569					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)	p.E569Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTGCCAGACTGAGGGGCCGTT	0.617																																																1	Substitution - Missense(1)	ovary(1)	3											69	62	64					3																	14523332		2203	4300	6503	14498336	SO:0001583	missense	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1705G>C	3.37:g.14523332G>C	ENSP00000398063:p.Glu569Gln		14498336	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	CCDS33705.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.728|7.728	0.698648|0.698648	0.15106|0.15106	.|.	.|.	ENSG00000131389|ENSG00000131389	ENST00000454876;ENST00000360861|ENST00000452151	T;T|.	0.72942|.	-0.7;-0.7|.	4.61|4.61	0.67|0.67	0.17923|0.17923	.|.	0.564948|.	0.18906|.	N|.	0.127881|.	T|.	0.24314|.	0.0589|.	N|N	0.14661|0.14661	0.345|0.345	0.30896|0.30896	N|N	0.729808|0.729808	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|.	0.32955|.	-0.9887|.	10|.	0.41790|.	T|.	0.15|.	.|.	7.2684|7.2684	0.26242|0.26242	0.2229:0.1393:0.6377:0.0|0.2229:0.1393:0.6377:0.0	.|.	569|.	P31641|.	SC6A6_HUMAN|.	Q|S	569|77	ENSP00000398063:E569Q;ENSP00000354107:E569Q|.	ENSP00000354107:E569Q|.	E|X	+|+	1|2	0|2	SLC6A6|SLC6A6	14498336|14498336	0.998000|0.998000	0.40836|0.40836	0.347000|0.347000	0.25668|0.25668	0.184000|0.184000	0.23303|0.23303	2.726000|2.726000	0.47302|0.47302	0.144000|0.144000	0.18951|0.18951	0.460000|0.460000	0.39030|0.39030	GAG|TGA		0.617	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		C	14523332	G	C	14523332	3	2	227	1	0	0	0	0	1	0	0	0	14691	1291	45	3	1755	3	SLC6A6	3	14523332	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09		14523332	183499098	21	12838											
GORASP1	64689	genome.wustl.edu	37	3	39144201	39144201	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr3:39144201G>A	ENST00000319283.3	-	3	1137	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	GORASP1_ENST00000479927.1_Intron|GORASP1_ENST00000422110.2_Intron	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	106					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)		p.R106C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGGCCCTGCGGAAGCTGCAG	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											101	94	96					3																	39144201		2203	4300	6503	39119205	SO:0001583	missense	64689			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"golgi phosphoprotein 5"	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.316C>T	3.37:g.39144201G>A	ENSP00000313869:p.Arg106Cys		39119205	B3KWC8|Q3SYG7|Q8N272|Q96H42	Missense_Mutation	SNP	ENST00000319283.3	37	CCDS2681.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595927	0.66332	.	.	ENSG00000114745	ENST00000319283;ENST00000437458;ENST00000416741;ENST00000411813	T	0.30981	1.51	5.05	3.18	0.36537	PDZ/DHR/GLGF (1);	0.363545	0.29369	N	0.012347	T	0.40067	0.1102	L	0.36672	1.1	0.80722	D	1	D	0.57257	0.979	P	0.61658	0.892	T	0.15350	-1.0440	10	0.72032	D	0.01	-12.0833	11.3652	0.49668	0.0:0.1311:0.7161:0.1527	.	106	Q9BQQ3	GORS1_HUMAN	C	106;146;33;106	ENSP00000313869:R106C	ENSP00000313869:R106C	R	-	1	0	GORASP1	39119205	1.000000	0.71417	0.981000	0.43875	0.815000	0.46073	3.243000	0.51392	0.461000	0.27071	-0.410000	0.06199	CGC		0.627	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1			A	39144201	G	A	39144201	3	1	227	1	0	0	0	0	1	0	0	0	6575	1116	39	1	1034	1	GORASP1	3	39144201	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	24620869	39144201	158878229	22	12839											
CCR3	1232	genome.wustl.edu	37	3	46307596	46307596	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr3:46307596T>C	ENST00000357422.2	+	4	1490	c.947T>C	c.(946-948)tTc>tCc	p.F316S	CCR3_ENST00000541018.1_Missense_Mutation_p.F316S|CCR3_ENST00000395940.2_Missense_Mutation_p.F316S|CCR3_ENST00000395942.2_Missense_Mutation_p.F316S|CCR3_ENST00000545097.1_Missense_Mutation_p.F337S			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	316					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.F316S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CGCCACTTCTTCCACAGGCAC	0.552																																																1	Substitution - Missense(1)	ovary(1)	3											100	85	90					3																	46307596		2203	4300	6503	46282600	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.947T>C	3.37:g.46307596T>C	ENSP00000350003:p.Phe316Ser		46282600	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058355	0.76074	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.42	5.42	0.78866	.	1.401590	0.05162	N	0.497883	T	0.73822	0.3636	M	0.88310	2.945	0.43499	D	0.995742	D;D	0.69078	0.997;0.988	D;P	0.68483	0.958;0.852	T	0.61402	-0.7070	10	0.87932	D	0	.	15.4496	0.75262	0.0:0.0:0.0:1.0	.	337;316	F5GWL6;P51677	.;CCR3_HUMAN	S	316;337;316;316;316	ENSP00000350003:F316S;ENSP00000441600:F337S;ENSP00000440097:F316S;ENSP00000379271:F316S;ENSP00000379273:F316S	ENSP00000350003:F316S	F	+	2	0	CCR3	46282600	0.984000	0.35163	0.915000	0.36163	0.799000	0.45148	2.099000	0.41767	2.042000	0.60477	0.459000	0.35465	TTC		0.552	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			C	46307596	T	C	46307596	3	2	227	1	0	0	0	0	1	0	0	0	2942	1783	62	4	1016	4	CCR3	3	46307596	Missense_Mutation	SNP	T	TCGA-24-1435-01A-01W-0549-09	7163395	46307596	151714834	23	12840											
TRAIP	10293	genome.wustl.edu	37	3	49885593	49885593	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr3:49885593G>C	ENST00000331456.2	-	2	252	c.139C>G	c.(139-141)Cca>Gca	p.P47A	TRAIP_ENST00000469027.1_Missense_Mutation_p.P47A|TRAIP_ENST00000473863.1_5'UTR	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	47					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P47A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCACTGTGGGCAGGTCCGA	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											102	87	92					3																	49885593		2203	4300	6503	49860597	SO:0001583	missense	10293			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.139C>G	3.37:g.49885593G>C	ENSP00000328203:p.Pro47Ala		49860597	B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246788	0.59103	.	.	ENSG00000183763	ENST00000331456;ENST00000469027;ENST00000482582;ENST00000482243	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.65	4.75	0.60458	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.051323	0.85682	N	0.000000	D	0.97901	0.9310	M	0.93197	3.39	0.53005	D	0.999967	D;B;D	0.89917	1.0;0.235;1.0	D;B;D	0.97110	1.0;0.19;1.0	D	0.98844	1.0756	10	0.87932	D	0	-13.4357	15.3398	0.74287	0.0:0.1402:0.8598:0.0	.	47;47;47	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	A	47	ENSP00000328203:P47A;ENSP00000420085:P47A;ENSP00000418544:P47A;ENSP00000419350:P47A	ENSP00000328203:P47A	P	-	1	0	TRAIP	49860597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.401000	0.90202	1.321000	0.45227	0.655000	0.94253	CCA		0.502	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		C	49885593	G	C	49885593	3	2	227	1	0	0	0	0	1	0	0	0	16448	1232	43	3	1326	3	TRAIP	3	49885593	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	3577997	49885593	148136837	24	12841											
FLNB	2317	genome.wustl.edu	37	3	58111324	58111324	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr3:58111324G>C	ENST00000295956.4	+	23	4080	c.3915G>C	c.(3913-3915)gaG>gaC	p.E1305D	FLNB_ENST00000358537.3_Missense_Mutation_p.E1305D|FLNB_ENST00000357272.4_Missense_Mutation_p.E1305D|FLNB_ENST00000348383.5_Missense_Mutation_p.E1305D|FLNB_ENST00000490882.1_Missense_Mutation_p.E1305D|FLNB_ENST00000419752.2_Missense_Mutation_p.E1136D|FLNB_ENST00000429972.2_Missense_Mutation_p.E1305D|FLNB_ENST00000493452.1_Missense_Mutation_p.E1136D	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1305	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E1305D(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATGTAGTGGAGGTGACATATG	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											168	141	150					3																	58111324		2203	4300	6503	58086364	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3915G>C	3.37:g.58111324G>C	ENSP00000295956:p.Glu1305Asp		58086364	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	6.874	0.530739	0.13127	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	6.06	2.89	0.33648	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.238346	0.49916	D	0.000127	T	0.80773	0.4687	N	0.16266	0.395	0.37723	D	0.925	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.09377	0.001;0.004;0.002;0.0;0.002;0.002	T	0.69599	-0.5102	10	0.14656	T	0.56	.	5.2111	0.15316	0.1366:0.2663:0.4953:0.1018	.	1305;1305;1136;1136;1305;1305	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	D	1305;1305;1305;1305;1305;1305;1136;1136	ENSP00000295956:E1305D;ENSP00000420213:E1305D;ENSP00000351339:E1305D;ENSP00000415599:E1305D;ENSP00000232447:E1305D;ENSP00000349819:E1305D;ENSP00000418510:E1136D;ENSP00000414532:E1136D	ENSP00000295956:E1305D	E	+	3	2	FLNB	58086364	0.995000	0.38212	1.000000	0.80357	0.508000	0.34012	0.270000	0.18607	0.895000	0.36342	-0.140000	0.14226	GAG		0.458	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		C	58111324	G	C	58111324	3	2	227	1	0	0	0	0	1	0	0	0	5934	991	35	3	4005	3	FLNB	3	58111324	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	8225731	58111324	139911106	25	12842											
KALRN	8997	genome.wustl.edu	37	3	124413265	124413265	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr3:124413265C>G	ENST00000291478.5	+	20	2564	c.2401C>G	c.(2401-2403)Cca>Gca	p.P801A	KALRN_ENST00000360013.3_Missense_Mutation_p.P2498A|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Missense_Mutation_p.P769A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2497					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.P801A(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						CTGTGGGCGGCCAAAGCCCAC	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											156	139	145					3																	124413265		2203	4300	6503	125895955	SO:0001583	missense	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	ENST00000291478.5:c.2401C>G	3.37:g.124413265C>G	ENSP00000291478:p.Pro801Ala		125895955	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498773	0.85069	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	T;T;T	0.74106	-0.81;-0.81;-0.81	6.07	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133416	0.51477	N	0.000089	T	0.81819	0.4903	M	0.93763	3.455	0.34375	D	0.692442	B;B	0.16603	0.018;0.002	B;B	0.20184	0.028;0.013	D	0.84977	0.0886	10	0.56958	D	0.05	.	15.6595	0.77174	0.0:0.8637:0.1363:0.0	.	801;2497	C9JQ37;O60229	.;KALRN_HUMAN	A	2498;801;769	ENSP00000353109:P2498A;ENSP00000291478:P801A;ENSP00000402419:P769A	ENSP00000291478:P801A	P	+	1	0	KALRN	125895955	1.000000	0.71417	0.961000	0.40146	0.956000	0.61745	5.500000	0.66943	1.529000	0.49120	0.655000	0.94253	CCA		0.537	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		G	124413265	C	G	124413265	3	3	227	1	0	0	0	0	1	0	0	0	7975	739	26	3	7858	3	KALRN	3	124413265	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	66301941	124413265	73609165	26	12843											
PIK3CB	5291	genome.wustl.edu	37	3	138423330	138423330	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr3:138423330A>C	ENST00000477593.1	-	11	1609	c.1536T>G	c.(1534-1536)atT>atG	p.I512M	PIK3CB_ENST00000289153.2_Missense_Mutation_p.I512M|PIK3CB_ENST00000544716.1_De_novo_Start_InFrame			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	512					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.I512M(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CTGCCTTTTCAATAATCTGTT	0.308																																																1	Substitution - Missense(1)	ovary(1)	3											131	131	131					3																	138423330		2203	4300	6503	139906020	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1536T>G	3.37:g.138423330A>C	ENSP00000418143:p.Ile512Met		139906020	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660479	0.29515	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.69685	-0.42;-0.42	6.08	3.66	0.41972	Armadillo-type fold (1);	0.480329	0.23107	N	0.051846	T	0.57740	0.2074	L	0.47716	1.5	0.80722	D	1	B	0.13594	0.008	B	0.17098	0.017	T	0.50541	-0.8816	10	0.39692	T	0.17	-15.7566	10.0448	0.42180	0.8867:0.0:0.1133:0.0	.	512	P42338	PK3CB_HUMAN	M	512	ENSP00000418143:I512M;ENSP00000289153:I512M	ENSP00000289153:I512M	I	-	3	3	PIK3CB	139906020	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.266000	0.43320	0.531000	0.28639	0.482000	0.46254	ATT		0.308	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			C	138423330	A	C	138423330	3	2	227	1	0	0	0	0	1	0	0	0	11914	126	5	5	1726	5	PIK3CB	3	138423330	Missense_Mutation	SNP	A	TCGA-24-1435-01A-01W-0549-09	14010065	138423330	59599100	27	12844											
PI4K2B	55300	genome.wustl.edu	37	4	25270129	25270129	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr4:25270129G>C	ENST00000264864.6	+	8	1332	c.1143G>C	c.(1141-1143)ttG>ttC	p.L381F	PI4K2B_ENST00000512921.1_Missense_Mutation_p.L285F	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	381	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.L381F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TAAGAAATTTGATTCTACCAT	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											63	62	62					4																	25270129		2203	4300	6503	24879227	SO:0001583	missense	55300			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.1143G>C	4.37:g.25270129G>C	ENSP00000264864:p.Leu381Phe		24879227	Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807757	0.50421	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T;T	0.77229	-1.08;-1.08	5.69	1.58	0.23477	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	M	0.75777	2.31	0.47374	D	0.999408	D	0.89917	1.0	D	0.97110	1.0	T	0.78221	-0.2288	10	0.17369	T	0.5	-13.567	5.9971	0.19499	0.3375:0.0:0.5347:0.1278	.	381	Q8TCG2	P4K2B_HUMAN	F	285;381;350	ENSP00000423373:L285F;ENSP00000264864:L381F	ENSP00000264864:L381F	L	+	3	2	PI4K2B	24879227	0.955000	0.32602	0.265000	0.24526	0.967000	0.64934	0.027000	0.13621	0.772000	0.33382	0.650000	0.86243	TTG		0.333	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		C	25270129	G	C	25270129	3	2	227	1	0	0	0	0	1	0	0	0	11872	1281	45	3	1173	3	PI4K2B	4	25270129	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09		25270129	165884147	28	12845											
HEATR7B2	133558	genome.wustl.edu	37	5	41033156	41033156	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr5:41033156A>G	ENST00000399564.4	-	23	2798	c.2348T>C	c.(2347-2349)aTt>aCt	p.I783T	MROH2B_ENST00000506092.2_Missense_Mutation_p.I338T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	783								p.I783T(1)									CATGTAACCAATCAGCATCTC	0.433																																																1	Substitution - Missense(1)	ovary(1)	5											121	111	114					5																	41033156		2011	4173	6184	41068913	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2348T>C	5.37:g.41033156A>G	ENSP00000382476:p.Ile783Thr		41068913	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	8.591	0.884613	0.17467	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68479	-0.33;-0.33	5.55	5.55	0.83447	Armadillo-type fold (1);	0.419619	0.20374	N	0.093589	T	0.43033	0.1229	N	0.03324	-0.35	0.09310	N	0.999998	B	0.26195	0.144	B	0.24155	0.051	T	0.33266	-0.9875	10	0.33141	T	0.24	.	12.0724	0.53624	1.0:0.0:0.0:0.0	.	783	Q7Z745	HTRB2_HUMAN	T	338;488;783	ENSP00000441504:I338T;ENSP00000382476:I783T	ENSP00000296803:I488T	I	-	2	0	HEATR7B2	41068913	0.958000	0.32768	0.025000	0.17156	0.135000	0.20990	4.598000	0.61069	2.113000	0.64589	0.533000	0.62120	ATT		0.433	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		G	41033156	A	G	41033156	3	3	227	1	0	0	0	0	1	0	0	0	7035	101	4	4	2489	4	HEATR7B2	5	41033156	Missense_Mutation	SNP	A	TCGA-24-1435-01A-01W-0549-09		41033156	139882104	29	12846											
PCDHB12	56124	genome.wustl.edu	37	5	140590510	140590510	+	Silent	SNP	C	C	T	rs574218346	byFrequency	TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr5:140590510C>T	ENST00000239450.2	+	1	2220	c.2031C>T	c.(2029-2031)gcC>gcT	p.A677A	PCDHB12_ENST00000541609.1_Silent_p.A340A|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	677					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A677A(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGCGGCCCCGGCCCAGG	0.692																																																1	Substitution - coding silent(1)	ovary(1)	5											51	57	55					5																	140590510		2184	4267	6451	140570694	SO:0001819	synonymous_variant	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2031C>T	5.37:g.140590510C>T			140570694	B4DDU1	Silent	SNP	ENST00000239450.2	37	CCDS4254.1																																																																																				0.692	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		T	140590510	C	T	140590510	2	4	227	1	0	0	0	0	0	0	0	1	11537	610	22	2		2	PCDHB12	5	140590510	Silent	SNP	C	TCGA-24-1435-01A-01W-0549-09	99557354	140590510	40324750	30	12847											
ZNF354B	117608	genome.wustl.edu	37	5	178310100	178310100	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr5:178310100G>A	ENST00000322434.3	+	5	873	c.647G>A	c.(646-648)tGc>tAc	p.C216Y	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	216					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.C216Y(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCTATAAATGCAGTACATGT	0.289																																																1	Substitution - Missense(1)	ovary(1)	5											70	77	74					5																	178310100		2201	4296	6497	178242706	SO:0001583	missense	117608			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.647G>A	5.37:g.178310100G>A	ENSP00000327143:p.Cys216Tyr		178242706	A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623348	0.46840	.	.	ENSG00000178338	ENST00000322434	T	0.58358	0.34	3.53	3.53	0.40419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75474	0.3854	M	0.89840	3.065	0.40280	D	0.978385	D	0.89917	1.0	D	0.97110	1.0	T	0.81756	-0.0787	9	0.72032	D	0.01	.	12.6061	0.56525	0.0:0.0:1.0:0.0	.	216	Q96LW1	Z354B_HUMAN	Y	216	ENSP00000327143:C216Y	ENSP00000327143:C216Y	C	+	2	0	ZNF354B	178242706	1.000000	0.71417	0.980000	0.43619	0.780000	0.44128	6.382000	0.73167	1.805000	0.52779	0.561000	0.74099	TGC		0.289	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		A	178310100	G	A	178310100	3	1	227	1	0	0	0	0	1	0	0	0	17865	1319	46	2	661	2	ZNF354B	5	178310100	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	37719590	178310100	2605160	31	12848											
TCP11	6954	genome.wustl.edu	37	6	35086096	35086096	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr6:35086096T>G	ENST00000512012.1	-	9	1618	c.1462A>C	c.(1462-1464)Acc>Ccc	p.T488P	TCP11_ENST00000373979.2_Missense_Mutation_p.T426P|TCP11_ENST00000444780.2_Missense_Mutation_p.T496P|TCP11_ENST00000244645.3_Missense_Mutation_p.T426P|TCP11_ENST00000418521.2_Missense_Mutation_p.T425P|TCP11_ENST00000412155.2_Missense_Mutation_p.T450P|TCP11_ENST00000373974.4_Missense_Mutation_p.T455P|TCP11_ENST00000311875.5_Missense_Mutation_p.T501P			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	488					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T426P(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GAAATGAGGGTTTTTAGGATC	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											161	162	162					6																	35086096		2203	4300	6503	35194074	SO:0001583	missense	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1462A>C	6.37:g.35086096T>G	ENSP00000425995:p.Thr488Pro		35194074	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	T	13.14	2.149722	0.37923	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012	T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.32	2.87	0.33458	.	0.549053	0.18469	N	0.140280	T	0.04998	0.0134	L	0.57536	1.79	0.09310	N	0.999998	B;B;B;B;B;B	0.12013	0.002;0.002;0.002;0.005;0.002;0.001	B;B;B;B;B;B	0.13407	0.006;0.006;0.006;0.009;0.006;0.008	T	0.34329	-0.9833	10	0.59425	D	0.04	-7.0261	6.5218	0.22279	0.1486:0.0761:0.0:0.7753	.	455;450;496;561;488;426	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	P	426;450;426;501;496;455;425;488	ENSP00000363091:T426P;ENSP00000402816:T450P;ENSP00000244645:T426P;ENSP00000308708:T501P;ENSP00000404479:T496P;ENSP00000363085:T455P;ENSP00000415320:T425P;ENSP00000425995:T488P	ENSP00000244645:T426P	T	-	1	0	TCP11	35194074	0.016000	0.18221	0.007000	0.13788	0.091000	0.18340	0.819000	0.27308	0.310000	0.22990	0.460000	0.39030	ACC		0.502	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		G	35086096	T	G	35086096	3	3	227	1	0	0	0	0	1	0	0	0	15713	1725	60	5	53	5	TCP11	6	35086096	Missense_Mutation	SNP	T	TCGA-24-1435-01A-01W-0549-09		35086096	136028971	32	12849											
ZNF292	23036	genome.wustl.edu	37	6	87971465	87971465	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr6:87971465G>T	ENST00000369577.3	+	8	8161	c.8118G>T	c.(8116-8118)atG>atT	p.M2706I	ZNF292_ENST00000339907.4_Missense_Mutation_p.M2701I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2706						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.M2561I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATCCAGATATGTCTGTTATGA	0.318																																																1	Substitution - Missense(1)	ovary(1)	6											51	50	50					6																	87971465		1828	4077	5905	88028184	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.8118G>T	6.37:g.87971465G>T	ENSP00000358590:p.Met2706Ile		88028184	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	0.410	-0.913799	0.02415	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.05786	3.39;3.4	5.92	1.27	0.21489	.	0.719989	0.13400	N	0.390739	T	0.00580	0.0019	N	0.02011	-0.69	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.45352	-0.9267	10	0.13853	T	0.58	.	4.3131	0.10979	0.4076:0.0:0.3498:0.2426	.	2706	O60281	ZN292_HUMAN	I	2706;2701	ENSP00000358590:M2706I;ENSP00000342847:M2701I	ENSP00000342847:M2701I	M	+	3	0	ZNF292	88028184	0.000000	0.05858	0.948000	0.38648	0.941000	0.58515	0.413000	0.21148	0.269000	0.21961	0.555000	0.69702	ATG		0.318	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		T	87971465	G	T	87971465	3	4	227	1	0	0	0	0	1	0	0	0	17826	1377	48	3	8148	3	ZNF292	6	87971465	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	52885369	87971465	83143602	33	12850											
AIM1	202	genome.wustl.edu	37	6	106969189	106969214	+	Frame_Shift_Del	DEL	AGGCTAATCATATTGAAAGTGTTATT	AGGCTAATCATATTGAAAGTGTTATT	-	rs140407254|rs375366785|rs201797268|rs575356547|rs149596949|rs144529082	byFrequency	TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	AGGCTAATCATATTGAAAGTGTTATT	AGGCTAATCATATTGAAAGTGTTATT	AGGCTAATCATATTGAAAGTGTTATT	-	AGGCTAATCATATTGAAAGTGTTATT	AGGCTAATCATATTGAAAGTGTTATT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr6:106969189_106969214delAGGCTAATCATATTGAAAGTGTTATT	ENST00000369066.3	+	2	3369_3394	c.2882_2907delAGGCTAATCATATTGAAAGTGTTATT	c.(2881-2907)aaggctaatcatattgaaagtgttattfs	p.KANHIESVI961fs		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.A962fs*10(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GATATGGAAAAGGCTAATCATATTGAAAGTGTTATTAAATCAAACT	0.363																																																1	Deletion - Frameshift(1)	ovary(1)	6																																								107075907	SO:0001589	frameshift_variant	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2882_2907delAGGCTAATCATATTGAAAGTGTTATT	6.37:g.106969189_106969214delAGGCTAATCATATTGAAAGTGTTATT	ENSP00000358062:p.Lys961fs		107075882	Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000369066.3	37	CCDS34506.1																																																																																				0.363	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			-	106969214	AGGCTAATCATATTGAAAGTGTTATT	-	106969189	7	5	227	1	0	1	0	1	0	0	0	0	430	72	3	0	2888	0	AIM1	6	106969189	Frame_Shift_Del	DEL	AGGCTAATCATATTGAAAGTGTTATT	TCGA-24-1435-01A-01W-0549-09	18997724	106969189	64145878	34	12851											
GTF2IRD2B	389524	genome.wustl.edu	37	7	74564621	74564621	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr7:74564621A>G	ENST00000312575.7	+	16	2543	c.2368A>G	c.(2368-2370)Aaa>Gaa	p.K790E	GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.K337E	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	790					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K790E(1)		endometrium(1)|ovary(2)|prostate(1)	4						gttcctagcaaaactgtgcct	0.488																																																1	Substitution - Missense(1)	ovary(1)	7											19	20	20					7																	74564621		1472	3131	4603	74202557	SO:0001583	missense	389524			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.2368A>G	7.37:g.74564621A>G	ENSP00000308080:p.Lys790Glu		74202557	B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	ENST00000312575.7	37	CCDS34659.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805335	0.31961	.	.	ENSG00000174428	ENST00000312575;ENST00000418185;ENST00000412484	T;T	0.22945	1.93;1.93	1.53	1.53	0.23141	Ribonuclease H-like (1);	.	.	.	.	T	0.48714	0.1515	M	0.87827	2.91	0.29481	N	0.856353	P;D	0.63880	0.856;0.993	P;D	0.68192	0.769;0.956	T	0.41574	-0.9501	9	0.87932	D	0	-10.1214	5.1941	0.15227	1.0:0.0:0.0:0.0	.	285;790	Q86Y00;Q6EKJ0	.;GTD2B_HUMAN	E	790;337;205	ENSP00000308080:K790E;ENSP00000411454:K337E	ENSP00000308080:K790E	K	+	1	0	GTF2IRD2B	74202557	0.735000	0.28153	0.899000	0.35326	0.967000	0.64934	2.100000	0.41777	0.961000	0.38030	0.352000	0.21897	AAA		0.488	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	NM_001003795		G	74564621	A	G	74564621	3	3	227	1	0	0	0	0	1	0	0	0	6870	15	1	4	2426	4	GTF2IRD2B	7	74564621	Missense_Mutation	SNP	A	TCGA-24-1435-01A-01W-0549-09		74564621	84574042	35	12852											
CCDC146	57639	genome.wustl.edu	37	7	76903942	76903942	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr7:76903942A>C	ENST00000285871.4	+	11	1540	c.1413A>C	c.(1411-1413)caA>caC	p.Q471H	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.Q185H	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	471								p.Q471H(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAAGGAACAAAAGTCCAAGG	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											55	53	54					7																	76903942		2203	4300	6503	76741878	SO:0001583	missense	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1413A>C	7.37:g.76903942A>C	ENSP00000285871:p.Gln471His		76741878	A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810648	0.32053	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.36520	1.25;1.25	5.71	-0.979	0.10276	.	0.061993	0.64402	D	0.000003	T	0.38348	0.1037	L	0.46157	1.445	0.48511	D	0.999661	D;P	0.54772	0.968;0.702	P;B	0.53062	0.717;0.36	T	0.15723	-1.0427	10	0.41790	T	0.15	-21.6799	11.171	0.48571	0.4253:0.0:0.5747:0.0	.	185;471	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	H	471;185	ENSP00000285871:Q471H;ENSP00000413885:Q185H	ENSP00000285871:Q471H	Q	+	3	2	AC007000.1	76741878	0.997000	0.39634	0.979000	0.43373	0.608000	0.37181	0.331000	0.19733	-0.112000	0.11979	-0.334000	0.08254	CAA		0.373	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		C	76903942	A	C	76903942	3	2	227	1	0	0	0	0	1	0	0	0	2780	11	1	5	1451	5	CCDC146	7	76903942	Missense_Mutation	SNP	A	TCGA-24-1435-01A-01W-0549-09	2339321	76903942	82234721	36	12853											
SAMD9L	219285	genome.wustl.edu	37	7	92761355	92761355	+	Silent	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr7:92761355C>T	ENST00000318238.4	-	5	5146	c.3930G>A	c.(3928-3930)ttG>ttA	p.L1310L	SAMD9L_ENST00000411955.1_Silent_p.L1310L|SAMD9L_ENST00000437805.1_Silent_p.L1310L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1310					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L1310L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GACATGGATCCAAATGACAGA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	7											76	79	78					7																	92761355		2203	4299	6502	92599291	SO:0001819	synonymous_variant	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3930G>A	7.37:g.92761355C>T			92599291	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	CCDS34681.1																																																																																				0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		T	92761355	C	T	92761355	2	4	227	1	0	0	0	0	0	0	0	1	13830	593	21	2		2	SAMD9L	7	92761355	Silent	SNP	C	TCGA-24-1435-01A-01W-0549-09	15857413	92761355	66377308	37	12854											
RELN	5649	genome.wustl.edu	37	7	103214613	103214613	+	Missense_Mutation	SNP	A	A	C	rs200920818		TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr7:103214613A>C	ENST00000428762.1	-	30	4596	c.4437T>G	c.(4435-4437)gaT>gaG	p.D1479E	RELN_ENST00000343529.5_Missense_Mutation_p.D1479E|RELN_ENST00000424685.2_Missense_Mutation_p.D1479E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1479					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.D1479E(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAGATTTGCCATCGTTAAGTG	0.483																																					NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - Missense(1)	ovary(1)	7											149	134	139					7																	103214613		2203	4300	6503	103001849	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4437T>G	7.37:g.103214613A>C	ENSP00000392423:p.Asp1479Glu		103001849	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773232	0.31411	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.43294	1.99;0.95;1.99	5.62	-0.98	0.10272	.	0.049041	0.85682	D	0.000000	T	0.34250	0.0891	N	0.14661	0.345	0.37648	D	0.922296	B;D	0.54964	0.0;0.969	B;P	0.59056	0.002;0.851	T	0.17289	-1.0374	10	0.19147	T	0.46	.	10.2247	0.43218	0.6751:0.0:0.3249:0.0	.	1479;1479	P78509-2;P78509	.;RELN_HUMAN	E	1479	ENSP00000392423:D1479E;ENSP00000345694:D1479E;ENSP00000388446:D1479E	ENSP00000345694:D1479E	D	-	3	2	RELN	103001849	0.719000	0.27986	0.931000	0.37212	0.942000	0.58702	-0.005000	0.12855	-0.310000	0.08766	0.533000	0.62120	GAT		0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103214613	A	C	103214613	3	2	227	1	0	0	0	0	1	0	0	0	13223	214	8	5	6089	5	RELN	7	103214613	Missense_Mutation	SNP	A	TCGA-24-1435-01A-01W-0549-09	10453258	103214613	55924050	38	12855											
SLC26A3	1811	genome.wustl.edu	37	7	107414533	107414533	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr7:107414533T>C	ENST00000340010.5	-	17	2023	c.1839A>G	c.(1837-1839)atA>atG	p.I613M	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	613	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.I613M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CCAGTACTTCTATCTGATTGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	7											302	264	277					7																	107414533		2203	4300	6503	107201769	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1839A>G	7.37:g.107414533T>C	ENSP00000345873:p.Ile613Met		107201769		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	T	1.325	-0.598274	0.03744	.	.	ENSG00000091138	ENST00000340010	D	0.93189	-3.18	6.16	-2.07	0.07276	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.423101	0.32593	N	0.005898	D	0.82365	0.5021	N	0.22421	0.69	0.42862	D	0.994116	B	0.21821	0.061	B	0.22152	0.038	T	0.63883	-0.6536	10	0.41790	T	0.15	.	0.5309	0.00628	0.1946:0.2271:0.2003:0.378	.	613	P40879	S26A3_HUMAN	M	613	ENSP00000345873:I613M	ENSP00000345873:I613M	I	-	3	3	SLC26A3	107201769	0.016000	0.18221	0.315000	0.25238	0.010000	0.07245	-0.117000	0.10708	-0.312000	0.08741	-0.263000	0.10527	ATA		0.428	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		C	107414533	T	C	107414533	3	2	227	1	0	0	0	0	1	0	0	0	14521	1512	53	4	475	4	SLC26A3	7	107414533	Missense_Mutation	SNP	T	TCGA-24-1435-01A-01W-0549-09	4199920	107414533	51724130	39	12856											
ARFGEF1	10565	genome.wustl.edu	37	8	68179365	68179365	+	Silent	SNP	T	T	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr8:68179365T>C	ENST00000262215.3	-	12	2162	c.1773A>G	c.(1771-1773)caA>caG	p.Q591Q	ARFGEF1_ENST00000520381.1_Silent_p.Q45Q	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	591					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q591Q(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCCCCTTCCTTGAGCAATTT	0.328																																																1	Substitution - coding silent(1)	ovary(1)	8											84	85	85					8																	68179365		2202	4297	6499	68341919	SO:0001819	synonymous_variant	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1773A>G	8.37:g.68179365T>C			68341919	Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	CCDS6199.1																																																																																				0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		C	68179365	T	C	68179365	2	2	227	1	0	0	0	0	0	0	0	1	852	1606	56	4		4	ARFGEF1	8	68179365	Silent	SNP	T	TCGA-24-1435-01A-01W-0549-09		68179365	78184657	40	12857											
CDH17	1015	genome.wustl.edu	37	8	95172299	95172299	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr8:95172299C>A	ENST00000027335.3	-	12	1575	c.1451G>T	c.(1450-1452)aGt>aTt	p.S484I	CDH17_ENST00000450165.2_Missense_Mutation_p.S484I|CDH17_ENST00000441892.2_Missense_Mutation_p.S270I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.S484I(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AATTTTAGAACTCCCAGTAAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	8											123	125	124					8																	95172299		2203	4300	6503	95241475	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1451G>T	8.37:g.95172299C>A	ENSP00000027335:p.Ser484Ile		95241475	Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141313	0.57044	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.52295	0.67;0.67;0.67	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000034	T	0.72922	0.3521	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78329	-0.2246	10	0.87932	D	0	-22.056	15.8056	0.78506	0.0:1.0:0.0:0.0	.	270;484	E7EN24;Q12864	.;CAD17_HUMAN	I	484;270;484	ENSP00000027335:S484I;ENSP00000392811:S270I;ENSP00000401468:S484I	ENSP00000027335:S484I	S	-	2	0	CDH17	95241475	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	5.317000	0.65822	2.469000	0.83416	0.561000	0.74099	AGT		0.448	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		A	95172299	C	A	95172299	3	1	227	1	0	0	0	0	1	0	0	0	3102	565	20	3	1075	3	CDH17	8	95172299	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	26992934	95172299	51191723	41	12858											
RGS22	26166	genome.wustl.edu	37	8	101117621	101117621	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr8:101117621G>A	ENST00000360863.6	-	2	229	c.35C>T	c.(34-36)aCt>aTt	p.T12I	RGS22_ENST00000523287.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.T12I	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	12					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.T12I(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCTGTAATAGTTGGTGGCTC	0.338																																																1	Substitution - Missense(1)	ovary(1)	8											96	101	100					8																	101117621		1836	4084	5920	101186797	SO:0001583	missense	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.35C>T	8.37:g.101117621G>A	ENSP00000354109:p.Thr12Ile		101186797	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	g	10.56	1.384734	0.25031	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437	T;T	0.63580	-0.05;-0.05	4.96	-3.16	0.05217	.	2.268410	0.02201	N	0.062274	T	0.43322	0.1242	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20874	-1.0262	10	0.52906	T	0.07	.	1.2779	0.02034	0.1946:0.121:0.2104:0.474	.	12;12	A8K944;Q8NE09	.;RGS22_HUMAN	I	12	ENSP00000354109:T12I;ENSP00000428212:T12I	ENSP00000354109:T12I	T	-	2	0	RGS22	101186797	0.005000	0.15991	0.096000	0.21009	0.927000	0.56198	-0.381000	0.07417	-0.426000	0.07360	0.651000	0.88453	ACT		0.338	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		A	101117621	G	A	101117621	3	1	227	1	0	0	0	0	1	0	0	0	13308	1029	36	2	3863	2	RGS22	8	101117621	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	5945322	101117621	45246401	42	12859											
ENPP2	5168	genome.wustl.edu	37	8	120575156	120575156	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr8:120575156G>T	ENST00000075322.6	-	24	2420	c.2362C>A	c.(2362-2364)Cct>Act	p.P788T	ENPP2_ENST00000259486.6_Missense_Mutation_p.P840T|ENPP2_ENST00000522167.1_Missense_Mutation_p.P423T|ENPP2_ENST00000522826.1_Missense_Mutation_p.P813T|ENPP2_ENST00000427067.2_Missense_Mutation_p.P809T	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	788					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P840T(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAGAGAGAGGGCCGTCACAC	0.522																																					Melanoma(20;305 879 2501 4818 31020)											1	Substitution - Missense(1)	ovary(1)	8											142	119	127					8																	120575156		2203	4300	6503	120644337	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2362C>A	8.37:g.120575156G>T	ENSP00000075322:p.Pro788Thr		120644337	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562461	0.45694	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.8	4.91	0.64330	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.107284	0.64402	D	0.000003	T	0.71013	0.3290	L	0.59436	1.845	0.58432	D	0.999996	P;P;P;P;P	0.50617	0.937;0.775;0.575;0.734;0.575	P;P;P;P;P	0.59221	0.854;0.697;0.546;0.571;0.546	T	0.67086	-0.5759	10	0.15499	T	0.54	.	16.024	0.80528	0.0:0.0:0.8645:0.1355	.	326;813;788;840;423	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	T	840;809;423;813;788	ENSP00000259486:P840T;ENSP00000403315:P809T;ENSP00000429476:P423T;ENSP00000428291:P813T;ENSP00000075322:P788T	ENSP00000075322:P788T	P	-	1	0	ENPP2	120644337	1.000000	0.71417	0.969000	0.41365	0.868000	0.49771	7.824000	0.86668	1.404000	0.46819	0.650000	0.86243	CCT		0.522	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			T	120575156	G	T	120575156	3	4	227	1	0	0	0	0	1	0	0	0	5130	1232	43	3	237	3	ENPP2	8	120575156	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	19457535	120575156	25788866	43	12860											
RPS6	6194	genome.wustl.edu	37	9	19379608	19379610	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	GAT	GAT	GAT	-	GAT	GAT	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr9:19379608_19379610delGAT	ENST00000380394.4	-	2	71_73	c.13_15delATC	c.(13-15)atcdel	p.I5del	RPS6_ENST00000380384.1_5'UTR|RPS6_ENST00000315377.4_5'UTR|RPS6_ENST00000380381.3_In_Frame_Del_p.I5del|RPS6_ENST00000498815.1_5'Flank	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	5					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)	p.I5del(1)		endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CTGGGAAGGAGATGTTCAGCTAA	0.429																																																1	Deletion - In frame(1)	ovary(1)	9																																								19369610	SO:0001651	inframe_deletion	6194				CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"S ribosomal proteins"	10429	protein-coding gene	gene with protein product	"40S ribosomal protein S6", "phosphoprotein NP33"	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.13_15delATC	9.37:g.19379608_19379610delGAT	ENSP00000369757:p.Ile5del		19369608	P08227|P10660|Q4VBY7|Q8N6Z7	In_Frame_Del	DEL	ENST00000380394.4	37	CCDS6492.1																																																																																				0.429	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	NM_001010		-	19379610	GAT	-	19379608	7	5	227	1	0	1	0	1	0	0	0	0	13652	932	33	0	754	0	RPS6	9	19379608	In_Frame_Del	DEL	GAT	TCGA-24-1435-01A-01W-0549-09		19379608	121833823	44	12861											
TRAF1	7185	genome.wustl.edu	37	9	123673632	123673632	+	Missense_Mutation	SNP	C	C	T	rs149705933		TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr9:123673632C>T	ENST00000373887.3	-	6	3310	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	TRAF1_ENST00000540010.1_Missense_Mutation_p.V289I|TRAF1_ENST00000546084.1_Missense_Mutation_p.V167I	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	289	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V289I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						AAGAGGCTGACGGTCCTGCCA	0.612													c|||	1	0.000199681	8e-04	0	5008	,	,		20798	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9						T	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	37	33	35		865,499,865	-2	0.6	9	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRAF1	NM_001190945.1,NM_001190947.1,NM_005658.4	29,29,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	289/417,167/295,289/417	123673632	3,13003	2203	4300	6503	122713453	SO:0001583	missense	7185			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.865G>A	9.37:g.123673632C>T	ENSP00000362994:p.Val289Ile		122713453	B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	c	7.976	0.750141	0.15778	4.54E-4	1.16E-4	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.43688	0.94;0.94;0.94	4.64	-2.01	0.07410	TRAF-type (1);TRAF-like (1);MATH (3);	0.644298	0.15227	N	0.273622	T	0.19886	0.0478	N	0.11927	0.2	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.27739	-1.0065	10	0.14656	T	0.56	-16.2109	10.0395	0.42148	0.0:0.4697:0.0:0.5303	.	289	Q13077	TRAF1_HUMAN	I	289;289;167	ENSP00000362994:V289I;ENSP00000443183:V289I;ENSP00000438583:V167I	ENSP00000362994:V289I	V	-	1	0	TRAF1	122713453	0.000000	0.05858	0.623000	0.29173	0.905000	0.53344	-1.063000	0.03465	-0.333000	0.08476	-0.213000	0.12676	GTC		0.612	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		T	123673632	C	T	123673632	3	4	227	1	0	0	0	0	1	0	0	0	16437	536	19	1	397	1	TRAF1	9	123673632	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	104294024	123673632	17539799	45	12862											
ZMYND17	118490	genome.wustl.edu	37	10	75185963	75185963	+	Silent	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr10:75185963C>T	ENST00000372912.1	-	4	677	c.675G>A	c.(673-675)ccG>ccA	p.P225P	MSS51_ENST00000299432.2_Silent_p.P225P|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	225					social behavior (GO:0035176)		metal ion binding (GO:0046872)	p.P225P(1)									GCAGGACATCCGGGTCTGGCC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	10											65	61	62					10																	75185963		2203	4300	6503	74855969	SO:0001819	synonymous_variant	118490			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	21000	protein-coding gene	gene with protein product		614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.675G>A	10.37:g.75185963C>T			74855969	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Silent	SNP	ENST00000372912.1	37	CCDS31221.1																																																																																				0.542	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		T	75185963	C	T	75185963	2	4	227	1	0	0	0	0	0	0	0	1	17709	639	23	1		1	ZMYND17	10	75185963	Silent	SNP	C	TCGA-24-1435-01A-01W-0549-09		75185963	60348784	46	12863											
FAM35A	54537	genome.wustl.edu	37	10	88930699	88930699	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr10:88930699C>G	ENST00000298784.1	+	6	2045	c.1931C>G	c.(1930-1932)gCa>gGa	p.A644G	FAM35A_ENST00000298786.4_Missense_Mutation_p.A644G	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	644								p.A644G(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GGTCCTGGAGCAGCCTGGTAC	0.378																																					Ovarian(175;703 2004 25460 32514 43441)											1	Substitution - Missense(1)	ovary(1)	10											4	4	4					10																	88930699		1763	3630	5393	88920679	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1931C>G	10.37:g.88930699C>G	ENSP00000298784:p.Ala644Gly		88920679	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.54|17.54	3.414336|3.414336	0.62511|0.62511	.|.	.|.	ENSG00000122376|ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313|ENST00000342900	T;T;T|.	0.66638|.	-0.22;-0.22;-0.22|.	4.05|4.05	2.14|2.14	0.27477|0.27477	.|.	0.512623|.	0.20963|.	N|.	0.082530|.	T|T	0.54498|0.54498	0.1862|0.1862	M|M	0.64997|0.64997	1.995|1.995	0.32628|0.32628	N|N	0.522351|0.522351	D;D|.	0.58268|.	0.965;0.982|.	P;P|.	0.57425|.	0.558;0.82|.	T|T	0.61744|0.61744	-0.7000|-0.7000	10|5	0.87932|.	D|.	0|.	-14.5696|-14.5696	7.3125|7.3125	0.26483|0.26483	0.1703:0.7359:0.0:0.0938|0.1703:0.7359:0.0:0.0938	.|.	298;644|.	Q5VSZ0;Q86V20|.	.;FA35A_HUMAN|.	G|R	644|298	ENSP00000298786:A644G;ENSP00000298784:A644G;ENSP00000351064:A644G|.	ENSP00000298784:A644G|.	A|S	+|+	2|3	0|2	FAM35A|FAM35A	88920679|88920679	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.949000|0.949000	0.60115|0.60115	1.471000|1.471000	0.35365|0.35365	1.026000|1.026000	0.39733|0.39733	0.603000|0.603000	0.83216|0.83216	GCA|AGC		0.378	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		G	88930699	C	G	88930699	3	3	227	1	0	0	0	0	1	0	0	0	5553	710	25	3	1945	3	FAM35A	10	88930699	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	13744736	88930699	46604048	47	12864											
PAMR1	25891	genome.wustl.edu	37	11	35496225	35496225	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr11:35496225G>C	ENST00000378880.2	-	4	892	c.447C>G	c.(445-447)caC>caG	p.H149Q	PAMR1_ENST00000278360.3_Missense_Mutation_p.H149Q|PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000532848.1_Missense_Mutation_p.H109Q|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	149	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.H149Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TCCATTCACAGTGAGCATTTA	0.443																																																1	Substitution - Missense(1)	ovary(1)	11											109	100	103					11																	35496225		2202	4298	6500	35452801	SO:0001583	missense	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.447C>G	11.37:g.35496225G>C	ENSP00000368158:p.His149Gln		35452801	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767182	0.31320	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000532848;ENST00000527605	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.2	1.26	0.21427	CUB (5);	0.124840	0.52532	D	0.000069	T	0.31263	0.0791	N	0.04994	-0.135	0.80722	D	1	B;B	0.30361	0.175;0.277	B;B	0.31390	0.129;0.079	T	0.08932	-1.0698	10	0.87932	D	0	.	5.5558	0.17115	0.2971:0.0:0.5668:0.1361	.	149;149	Q6UXH9;Q6UXH9-2	PAMR1_HUMAN;.	Q	149;149;109;109	ENSP00000278360:H149Q;ENSP00000368158:H149Q;ENSP00000433868:H109Q;ENSP00000432591:H109Q	ENSP00000278360:H149Q	H	-	3	2	PAMR1	35452801	0.999000	0.42202	0.984000	0.44739	0.835000	0.47333	0.429000	0.21412	0.215000	0.20761	0.462000	0.41574	CAC		0.443	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		C	35496225	G	C	35496225	3	2	227	1	0	0	0	0	1	0	0	0	11413	1020	36	3	1802	3	PAMR1	11	35496225	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09		35496225	99510291	48	12865											
OR5D16	390144	genome.wustl.edu	37	11	55607071	55607071	+	Missense_Mutation	SNP	G	G	A	rs375193534		TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr11:55607071G>A	ENST00000378396.1	+	1	844	c.844G>A	c.(844-846)Gtg>Atg	p.V282M		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V282M(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTTTTACACCGTGGTGATCCC	0.413																																																1	Substitution - Missense(1)	ovary(1)	11						G	MET/VAL	0,4402		0,0,2201	73	69	71		844	4.3	0.3	11		71	1,8591		0,1,4295	no	missense	OR5D16	NM_001005496.1	21	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	282/329	55607071	1,12993	2201	4296	6497	55363647	SO:0001583	missense	390144			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.844G>A	11.37:g.55607071G>A	ENSP00000367649:p.Val282Met		55363647	Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	7.186	0.590545	0.13812	0.0	1.16E-4	ENSG00000205029	ENST00000378396	T	0.00307	8.17	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00524	0.0017	M	0.78344	2.41	0.09310	N	1	P	0.52061	0.95	P	0.55824	0.785	T	0.59685	-0.7408	9	0.30854	T	0.27	-15.9636	14.5936	0.68389	0.0:0.0:1.0:0.0	.	282	Q8NGK9	OR5DG_HUMAN	M	282	ENSP00000367649:V282M	ENSP00000367649:V282M	V	+	1	0	OR5D16	55363647	0.000000	0.05858	0.313000	0.25210	0.047000	0.14425	-0.409000	0.07160	2.118000	0.64928	0.537000	0.68136	GTG		0.413	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		A	55607071	G	A	55607071	3	1	227	1	0	0	0	0	1	0	0	0	11156	1145	40	1	846	1	OR5D16	11	55607071	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	20110846	55607071	79399445	49	12866											
OR4D10	390197	genome.wustl.edu	37	11	59245129	59245129	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr11:59245129T>C	ENST00000530162.1	+	1	284	c.227T>C	c.(226-228)aTc>aCc	p.I76T		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I74T(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTCTTCCATCACAGTGCCC	0.443																																																1	Substitution - Missense(1)	ovary(1)	11											149	149	149					11																	59245129		2065	4233	6298	59001705	SO:0001583	missense	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.227T>C	11.37:g.59245129T>C	ENSP00000436424:p.Ile76Thr		59001705	B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	T	1.494	-0.553795	0.03996	.	.	ENSG00000254466	ENST00000530162	T	0.00512	6.89	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	N	0.02225	-0.63	0.26569	N	0.973598	B	0.02656	0.0	B	0.10450	0.005	T	0.21348	-1.0248	9	0.09843	T	0.71	.	8.3873	0.32508	0.1751:0.0:0.0:0.8249	.	76	Q8NGI6	OR4DA_HUMAN	T	76	ENSP00000436424:I76T	ENSP00000436424:I76T	I	+	2	0	OR4D10	59001705	0.000000	0.05858	0.361000	0.25849	0.031000	0.12232	0.204000	0.17335	1.733000	0.51620	0.533000	0.62120	ATC		0.443	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		C	59245129	T	C	59245129	3	2	227	1	0	0	0	0	1	0	0	0	11054	1435	50	4	229	4	OR4D10	11	59245129	Missense_Mutation	SNP	T	TCGA-24-1435-01A-01W-0549-09	3638058	59245129	75761387	50	12867											
MS4A15	219995	genome.wustl.edu	37	11	60531386	60531386	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr11:60531386G>T	ENST00000405633.3	+	2	259	c.180G>T	c.(178-180)ttG>ttT	p.L60F	MS4A15_ENST00000528170.1_Missense_Mutation_p.L60F|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	60						integral component of membrane (GO:0016021)		p.L60F(1)		breast(1)|large_intestine(2)|lung(3)	6						CACCTGACTTGCGGCCCGTGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	11											30	33	32					11																	60531386		2019	4153	6172	60287962	SO:0001583	missense	219995			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.180G>T	11.37:g.60531386G>T	ENSP00000386022:p.Leu60Phe		60287962	A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503185	0.12822	.	.	ENSG00000166961	ENST00000528170;ENST00000405633	T;T	0.21932	1.98;2.78	5.21	-9.2	0.00682	.	.	.	.	.	T	0.17577	0.0422	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.24835	-1.0149	9	0.09084	T	0.74	-11.1259	0.4307	0.00471	0.231:0.1828:0.3059:0.2803	.	60;60	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	F	60	ENSP00000434165:L60F;ENSP00000386022:L60F	ENSP00000386022:L60F	L	+	3	2	MS4A15	60287962	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	-0.530000	0.06179	-1.613000	0.01577	-1.587000	0.00848	TTG		0.587	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			T	60531386	G	T	60531386	3	4	227	1	0	0	0	0	1	0	0	0	9859	1310	46	3	182	3	MS4A15	11	60531386	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	1286257	60531386	74475130	51	12868											
NRXN2	9379	genome.wustl.edu	37	11	64390411	64390411	+	Silent	SNP	G	G	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr11:64390411G>T	ENST00000377551.1	-	20	4198	c.3987C>A	c.(3985-3987)ccC>ccA	p.P1329P	NRXN2_ENST00000265459.6_Silent_p.P1329P|NRXN2_ENST00000409571.1_Silent_p.P1322P|NRXN2_ENST00000301894.2_Silent_p.P283P|NRXN2_ENST00000377559.3_Silent_p.P1259P			Q9P2S2	NRX2A_HUMAN	neurexin 2	1329	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.P1329P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCGCACATTGGGGTCGCTCT	0.701																																																1	Substitution - coding silent(1)	ovary(1)	11											34	30	32					11																	64390411		2199	4295	6494	64146987	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3987C>A	11.37:g.64390411G>T			64146987	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																				0.701	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		T	64390411	G	T	64390411	2	4	227	1	0	0	0	0	0	0	0	1	10666	1335	47	3		3	NRXN2	11	64390411	Silent	SNP	G	TCGA-24-1435-01A-01W-0549-09	3859025	64390411	70616105	52	12869											
GAB2	9846	genome.wustl.edu	37	11	77934467	77934467	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr11:77934467C>T	ENST00000361507.4	-	6	1643	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	GAB2_ENST00000340149.2_Missense_Mutation_p.D482N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	520					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D520N(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCTTTCCGATCAGGTTTGAGG	0.537																																																1	Substitution - Missense(1)	ovary(1)	11											131	119	123					11																	77934467		2200	4292	6492	77612115	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1558G>A	11.37:g.77934467C>T	ENSP00000354952:p.Asp520Asn		77612115	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447467	0.43429	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.16597	2.33;2.33	4.97	4.06	0.47325	.	0.123993	0.52532	U	0.000061	T	0.13200	0.0320	L	0.35288	1.05	0.39173	D	0.962626	B	0.09022	0.002	B	0.06405	0.002	T	0.07868	-1.0750	10	0.30854	T	0.27	-26.3339	11.5342	0.50628	0.0:0.8518:0.0:0.1482	.	520	Q9UQC2	GAB2_HUMAN	N	482;520	ENSP00000343959:D482N;ENSP00000354952:D520N	ENSP00000343959:D482N	D	-	1	0	GAB2	77612115	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	3.476000	0.53143	1.323000	0.45263	0.561000	0.74099	GAT		0.537	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		T	77934467	C	T	77934467	3	4	227	1	0	0	0	0	1	0	0	0	6149	826	29	2	492	2	GAB2	11	77934467	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	13544056	77934467	57072049	53	12870											
TYR	7299	genome.wustl.edu	37	11	88924500	88924500	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr11:88924500A>C	ENST00000263321.5	+	2	1452	c.950A>C	c.(949-951)gAt>gCt	p.D317A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	317					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D317A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TCTTCAGCTGATGTAGAATTT	0.448																																																1	Substitution - Missense(1)	ovary(1)	11											120	117	118					11																	88924500		2201	4299	6500	88564148	SO:0001583	missense	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.950A>C	11.37:g.88924500A>C	ENSP00000263321:p.Asp317Ala		88564148	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.854863	0.91355	.	.	ENSG00000077498	ENST00000263321	D	0.97279	-4.32	5.59	5.59	0.84812	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.197051	0.52532	D	0.000062	D	0.97564	0.9202	M	0.75264	2.295	0.58432	D	0.999999	D	0.56746	0.977	P	0.54889	0.763	D	0.97524	1.0075	9	.	.	.	.	15.7688	0.78149	1.0:0.0:0.0:0.0	.	317	P14679	TYRO_HUMAN	A	317	ENSP00000263321:D317A	.	D	+	2	0	TYR	88564148	1.000000	0.71417	0.969000	0.41365	0.970000	0.65996	8.771000	0.91751	2.134000	0.65973	0.533000	0.62120	GAT		0.448	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		C	88924500	A	C	88924500	3	2	227	1	0	0	0	0	1	0	0	0	16813	333	12	5	956	5	TYR	11	88924500	Missense_Mutation	SNP	A	TCGA-24-1435-01A-01W-0549-09	10990033	88924500	46082016	54	12871											
CADM1	23705	genome.wustl.edu	37	11	115088693	115088693	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr11:115088693A>T	ENST00000452722.3	-	6	760	c.740T>A	c.(739-741)aTt>aAt	p.I247N	CADM1_ENST00000537058.1_Missense_Mutation_p.I247N|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_Missense_Mutation_p.I247N|CADM1_ENST00000536727.1_Missense_Mutation_p.I247N|CADM1_ENST00000331581.6_Missense_Mutation_p.I247N	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.I247N(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AGTCATCTGAATGTGCACTTG	0.443																																																1	Substitution - Missense(1)	ovary(1)	11											136	115	123					11																	115088693		2201	4296	6497	114593903	SO:0001583	missense	23705			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.740T>A	11.37:g.115088693A>T	ENSP00000395359:p.Ile247Asn		114593903		Missense_Mutation	SNP	ENST00000452722.3	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.037266|4.037266	0.75617|0.75617	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450	T|T;T;T;T;T;D	0.14893|0.87809	2.47|2.28;2.28;2.28;2.28;2.28;-2.3	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Immunoglobulin-like (1);	.|0.108661	.|0.64402	.|D	.|0.000008	D|D	0.93530|0.93530	0.7935|0.7935	M|M	0.84219|0.84219	2.685|2.685	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D;D;D	.|0.89917	.|0.995;0.995;0.996;1.0;0.971	.|P;P;D;D;P	.|0.80764	.|0.894;0.894;0.936;0.994;0.773	D|D	0.93942|0.93942	0.7224|0.7224	7|10	0.31617|0.56958	T|D	0.26|0.05	.|.	14.7818|14.7818	0.69772|0.69772	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|247;247;248;247;247	.|Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;.;CADM1_HUMAN;.	Q|N	245|247;247;247;247;206;247;100	ENSP00000442387:H245Q|ENSP00000439176:I247N;ENSP00000395359:I247N;ENSP00000439817:I247N;ENSP00000440322:I247N;ENSP00000329797:I247N;ENSP00000442001:I100N	ENSP00000442387:H245Q|ENSP00000329797:I247N	H|I	-|-	3|2	2|0	CADM1|CADM1	114593903|114593903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.817000|7.817000	0.86213|0.86213	2.232000|2.232000	0.73038|0.73038	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.443	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		T	115088693	A	T	115088693	3	4	227	1	0	0	0	0	1	0	0	0	2566	101	4	5	608	5	CADM1	11	115088693	Missense_Mutation	SNP	A	TCGA-24-1435-01A-01W-0549-09	26164193	115088693	19917823	55	12872											
VSIG2	23584	genome.wustl.edu	37	11	124620707	124620710	+	Frame_Shift_Del	DEL	GTCA	GTCA	-			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	GTCA	GTCA	GTCA	-	GTCA	GTCA	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr11:124620707_124620710delGTCA	ENST00000326621.5	-	3	427_430	c.327_330delTGAC	c.(325-330)actgacfs	p.TD109fs	VSIG2_ENST00000403470.1_Frame_Shift_Del_p.TD109fs	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	109	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.D110fs*26(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGGGGTGGACGTCAGTCAGTTTCA	0.529																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								124125920	SO:0001589	frameshift_variant	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.327_330delTGAC	11.37:g.124620711_124620714delGTCA	ENSP00000318684:p.Thr109fs		124125917	O95791|Q9NX42	Frame_Shift_Del	DEL	ENST00000326621.5	37	CCDS8452.1																																																																																				0.529	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		-	124620710	GTCA	-	124620707	7	5	227	1	0	1	0	1	0	0	0	0	17224	1136	40	0	673	0	VSIG2	11	124620707	Frame_Shift_Del	DEL	GTCA	TCGA-24-1435-01A-01W-0549-09	9532014	124620707	10385809	56	12873											
SLCO1C1	53919	genome.wustl.edu	37	12	20885980	20885980	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr12:20885980C>G	ENST00000266509.2	+	10	1692	c.1324C>G	c.(1324-1326)Ctg>Gtg	p.L442V	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.L442V|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.L442V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.L324V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.L393V	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	442					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L442V(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATTTCTTTCCCTGTTTGCACT	0.418																																																1	Substitution - Missense(1)	ovary(1)	12											195	175	182					12																	20885980		2203	4300	6503	20777247	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1324C>G	12.37:g.20885980C>G	ENSP00000266509:p.Leu442Val		20777247	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334035	0.24253	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;D	0.83250	0.13;0.13;0.13;0.13;-1.7	5.11	3.28	0.37604	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.064945	0.64402	D	0.000006	T	0.72763	0.3501	N	0.20357	0.565	0.42698	D	0.993605	P;P;B;B	0.47253	0.845;0.892;0.153;0.295	P;P;B;B	0.48873	0.503;0.593;0.179;0.246	T	0.66292	-0.5960	10	0.23891	T	0.37	.	5.9588	0.19289	0.0:0.5782:0.0:0.4218	.	324;393;442;442	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	V	442;393;442;442;324	ENSP00000444149:L442V;ENSP00000438665:L393V;ENSP00000266509:L442V;ENSP00000370964:L442V;ENSP00000444527:L324V	ENSP00000266509:L442V	L	+	1	2	SLCO1C1	20777247	0.989000	0.36119	0.997000	0.53966	0.985000	0.73830	2.395000	0.44459	0.722000	0.32252	0.591000	0.81541	CTG		0.418	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		G	20885980	C	G	20885980	3	3	227	1	0	0	0	0	1	0	0	0	14728	680	24	3	1358	3	SLCO1C1	12	20885980	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09		20885980	112965915	57	12874											
OR6C75	390323	genome.wustl.edu	37	12	55759292	55759292	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr12:55759292T>A	ENST00000343399.3	+	1	398	c.398T>A	c.(397-399)aTc>aAc	p.I133N		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I133N(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TACACAATCATCATGAGCACC	0.458																																																1	Substitution - Missense(1)	ovary(1)	12											168	141	150					12																	55759292		2203	4300	6503	54045559	SO:0001583	missense	390323				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.398T>A	12.37:g.55759292T>A	ENSP00000368987:p.Ile133Asn		54045559		Missense_Mutation	SNP	ENST00000343399.3	37	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	t	14.83	2.651246	0.47362	.	.	ENSG00000187857	ENST00000343399	T	0.00418	7.49	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.284658	0.24683	N	0.036444	T	0.01387	0.0045	M	0.90870	3.155	0.34838	D	0.740387	D	0.69078	0.997	D	0.64506	0.926	T	0.30149	-0.9988	10	0.87932	D	0	.	11.0501	0.47882	0.0:0.0:0.1554:0.8446	.	133	A6NL08	O6C75_HUMAN	N	133	ENSP00000368987:I133N	ENSP00000368987:I133N	I	+	2	0	OR6C75	54045559	0.475000	0.25894	0.999000	0.59377	0.300000	0.27592	3.640000	0.54350	2.202000	0.70862	0.519000	0.50382	ATC		0.458	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			A	55759292	T	A	55759292	3	1	227	1	0	0	0	0	1	0	0	0	11199	1435	50	5	400	5	OR6C75	12	55759292	Missense_Mutation	SNP	T	TCGA-24-1435-01A-01W-0549-09	34873312	55759292	78092603	58	12875											
IFT81	28981	genome.wustl.edu	37	12	110581325	110581325	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr12:110581325C>G	ENST00000242591.5	+	9	1426	c.920C>G	c.(919-921)tCt>tGt	p.S307C	IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000361948.4_Missense_Mutation_p.S307C|IFT81_ENST00000552912.1_Missense_Mutation_p.S307C	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	307					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.S307C(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ATGGGCCATTCTGATCTTCTT	0.294																																																1	Substitution - Missense(1)	ovary(1)	12											71	83	79					12																	110581325		2188	4281	6469	109065708	SO:0001583	missense	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.920C>G	12.37:g.110581325C>G	ENSP00000242591:p.Ser307Cys		109065708	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365332	0.82463	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.33865	1.39	4.62	4.62	0.57501	.	0.110120	0.64402	D	0.000009	T	0.52419	0.1733	M	0.64997	1.995	0.80722	D	1	D;D	0.56521	0.976;0.958	P;P	0.55577	0.779;0.639	T	0.58634	-0.7602	10	0.72032	D	0.01	-4.3797	17.834	0.88691	0.0:1.0:0.0:0.0	.	307;307	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	C	307;307;307;277	ENSP00000355372:S307C	ENSP00000242591:S307C	S	+	2	0	IFT81	109065708	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.972000	0.76110	2.274000	0.75844	0.557000	0.71058	TCT		0.294	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		G	110581325	C	G	110581325	3	3	227	1	0	0	0	0	1	0	0	0	7565	913	32	3	950	3	IFT81	12	110581325	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	54822033	110581325	23270570	59	12876											
UBC	7316	genome.wustl.edu	37	12	125398164	125398164	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr12:125398164C>T	ENST00000538617.1	-	3	470	c.154G>A	c.(154-156)Gat>Aat	p.D52N	UBC_ENST00000536661.1_5'UTR|UBC_ENST00000339647.5_Missense_Mutation_p.D52N|UBC_ENST00000536769.1_Missense_Mutation_p.D52N|UBC_ENST00000546120.1_Missense_Mutation_p.D52N|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	432	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.D52N(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTGCGCCCATCTTCCAGCTGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											217	201	206					12																	125398164		2203	4300	6503	123964117	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.154G>A	12.37:g.125398164C>T	ENSP00000443053:p.Asp52Asn		123964117	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000538617.1	37		.	.	.	.	.	.	.	.	.	.	-	18.57	3.653560	0.67472	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000544656;ENST00000541272;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700;ENST00000535859;ENST00000542416	T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.51	4.51	0.55191	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.49305	U	0.000147	T	0.62938	0.2469	L	0.59436	1.845	0.51233	D	0.999918	P;P;P	0.43607	0.812;0.775;0.812	P;P;P	0.59487	0.772;0.778;0.858	T	0.66559	-0.5893	10	0.87932	D	0	.	15.1039	0.72306	0.0:1.0:0.0:0.0	.	141;52;52	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	N	52	ENSP00000441543:D52N;ENSP00000443053:D52N;ENSP00000344818:D52N;ENSP00000438394:D52N;ENSP00000440205:D52N;ENSP00000442800:D52N;ENSP00000445337:D52N;ENSP00000439492:D52N;ENSP00000438289:D52N;ENSP00000441238:D52N;ENSP00000437452:D52N;ENSP00000441556:D52N	ENSP00000344818:D52N	D	-	1	0	UBC	123964117	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.792000	0.75125	2.212000	0.71576	0.650000	0.86243	GAT		0.532	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		T	125398164	C	T	125398164	3	4	227	1	0	0	0	0	1	0	0	0	16842	913	32	2	1907	2	UBC	12	125398164	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	14816839	125398164	8453731	60	12877											
ARHGAP5	394	genome.wustl.edu	37	14	32561295	32561295	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr14:32561295G>A	ENST00000345122.3	+	2	1735	c.1420G>A	c.(1420-1422)Gta>Ata	p.V474I	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V474I|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V474I|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V474I	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	474	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.V474I(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TAGCAAAGAGGTATATGGTAG	0.368																																					NSCLC(9;77 350 3443 29227 41353)											1	Substitution - Missense(1)	ovary(1)	14											74	77	76					14																	32561295		2203	4297	6500	31631046	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1420G>A	14.37:g.32561295G>A	ENSP00000371897:p.Val474Ile		31631046	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	1.872	-0.460038	0.04508	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	6.02	6.02	0.97574	FF domain (1);	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	N	0.05487	-0.04	0.80722	D	1	B;B	0.18610	0.029;0.017	B;B	0.30105	0.111;0.052	T	0.20874	-1.0262	10	0.02654	T	1	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	474;474	Q13017-2;Q13017	.;RHG05_HUMAN	I	474	ENSP00000452222:V474I;ENSP00000441692:V474I;ENSP00000371897:V474I;ENSP00000393307:V474I	ENSP00000371897:V474I	V	+	1	0	ARHGAP5	31631046	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.062000	0.89475	2.850000	0.98022	0.650000	0.86243	GTA		0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		A	32561295	G	A	32561295	3	1	227	1	0	0	0	0	1	0	0	0	886	1261	44	2	1422	2	ARHGAP5	14	32561295	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09		32561295	74788245	61	12878											
C14orf39	317761	genome.wustl.edu	37	14	60903646	60903646	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr14:60903646G>C	ENST00000321731.3	-	18	1840	c.1681C>G	c.(1681-1683)Cag>Gag	p.Q561E		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	561					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.Q561E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTTTGACCCTGTCCAAATGAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	14											148	168	161					14																	60903646		2203	4295	6498	59973399	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1681C>G	14.37:g.60903646G>C	ENSP00000324920:p.Gln561Glu		59973399	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432439	0.43224	.	.	ENSG00000179008	ENST00000321731	T	0.28069	1.63	5.39	3.51	0.40186	.	0.393532	0.21928	N	0.067061	T	0.27559	0.0677	M	0.62723	1.935	0.33891	D	0.637325	P	0.35872	0.525	B	0.30572	0.117	T	0.47209	-0.9135	10	0.66056	D	0.02	-0.1639	8.9456	0.35756	0.0774:0.0:0.773:0.1496	.	561	Q8N1H7	S6OS1_HUMAN	E	561	ENSP00000324920:Q561E	ENSP00000324920:Q561E	Q	-	1	0	C14orf39	59973399	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	2.760000	0.47581	1.230000	0.43646	0.557000	0.71058	CAG		0.323	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		C	60903646	G	C	60903646	3	2	227	1	0	0	0	0	1	0	0	0	1772	1386	48	3	86	3	C14orf39	14	60903646	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	28342351	60903646	46445894	62	12879											
ZNF609	23060	genome.wustl.edu	37	15	64791989	64791989	+	Missense_Mutation	SNP	G	G	A	rs369004534		TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr15:64791989G>A	ENST00000326648.3	+	1	499	c.371G>A	c.(370-372)cGc>cAc	p.R124H	ZNF609_ENST00000416172.1_Missense_Mutation_p.R124H	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	124						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R124H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCAGGGGCGCTCAGGAGAT	0.567																																																1	Substitution - Missense(1)	ovary(1)	15											45	48	47					15																	64791989		2203	4300	6503	62579042	SO:0001583	missense	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.371G>A	15.37:g.64791989G>A	ENSP00000316527:p.Arg124His		62579042	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.958548	0.74016	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	T	0.52526	0.66	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.951	T	0.72673	-0.4222	10	0.72032	D	0.01	-11.755	19.7614	0.96319	0.0:0.0:1.0:0.0	.	124;124	E7ERY8;O15014	.;ZN609_HUMAN	H	124	ENSP00000316527:R124H	ENSP00000316527:R124H	R	+	2	0	ZNF609	62579042	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.757000	0.98924	2.747000	0.94245	0.651000	0.88453	CGC		0.567	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		A	64791989	G	A	64791989	3	1	227	1	0	0	0	0	1	0	0	0	18035	1087	38	1	373	1	ZNF609	15	64791989	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09		64791989	37739403	63	12880											
C15orf44	81556	genome.wustl.edu	37	15	65899653	65899653	+	Silent	SNP	G	G	A	rs369672173		TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr15:65899653G>A	ENST00000395644.4	-	2	401	c.66C>T	c.(64-66)tcC>tcT	p.S22S	VWA9_ENST00000420799.2_Intron|VWA9_ENST00000431261.2_5'UTR|VWA9_ENST00000569491.1_Silent_p.S22S|VWA9_ENST00000567744.1_Silent_p.S58S|VWA9_ENST00000313182.2_Silent_p.S22S|VWA9_ENST00000442903.3_Silent_p.S22S			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	22	VWFA.							p.S22S(1)									GGTATTCCTCGGACCCCTCAA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	15						G	,,,,	0,4402		0,0,2201	116	97	103		,174,162,,66	-9.4	0.6	15		103	1,8597	1.2+/-3.3	0,1,4298	no	utr-5,coding-synonymous,coding-synonymous,intron,coding-synonymous	C15orf44	NM_001136043.2,NM_001207057.1,NM_001207058.1,NM_001207059.1,NM_030800.2	,,,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,58/555,54/501,,22/519	65899653	1,12999	2201	4299	6500	63686706	SO:0001819	synonymous_variant	81556			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.66C>T	15.37:g.65899653G>A			63686706	B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37																																																																																					0.473	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		A	65899653	G	A	65899653	2	1	227	1	0	0	0	0	0	0	0	1	1798	1103	39	1		1	C15orf44	15	65899653	Silent	SNP	G	TCGA-24-1435-01A-01W-0549-09	1107664	65899653	36631739	64	12881											
HCN4	10021	genome.wustl.edu	37	15	73617776	73617776	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr15:73617776C>T	ENST00000261917.3	-	5	2593	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	534					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.V534M(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TACTGCTCCACCTGCTTGTAC	0.657																																																1	Substitution - Missense(1)	ovary(1)	15											92	94	93					15																	73617776		2198	4297	6495	71404829	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1600G>A	15.37:g.73617776C>T	ENSP00000261917:p.Val534Met		71404829	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602074	0.66445	.	.	ENSG00000138622	ENST00000261917	D	0.96913	-4.17	3.6	3.6	0.41247	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.98055	0.9359	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99143	1.0856	9	0.87932	D	0	.	15.4365	0.75152	0.0:1.0:0.0:0.0	.	534	Q9Y3Q4	HCN4_HUMAN	M	534	ENSP00000261917:V534M	ENSP00000261917:V534M	V	-	1	0	HCN4	71404829	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.551000	0.82182	1.847000	0.53656	0.555000	0.69702	GTG		0.657	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73617776	C	T	73617776	3	4	227	1	0	0	0	0	1	0	0	0	6999	507	18	2	2027	2	HCN4	15	73617776	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	7718123	73617776	28913616	65	12882											
TNRC6A	27327	genome.wustl.edu	37	16	24804800	24804800	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr16:24804800G>T	ENST00000395799.3	+	7	3311	c.3182G>T	c.(3181-3183)gGt>gTt	p.G1061V	TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1061V	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1061	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G1061V(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AAAGGCTGGGGTGAGCCCTGG	0.517																																																1	Substitution - Missense(1)	ovary(1)	16											58	64	62					16																	24804800		2197	4300	6497	24712301	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3182G>T	16.37:g.24804800G>T	ENSP00000379144:p.Gly1061Val		24712301	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541106	0.85917	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.19669	2.13;2.17	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.62723	1.935	0.80722	D	1	P;P	0.48162	0.773;0.906	B;P	0.47402	0.316;0.546	T	0.00717	-1.1596	10	0.26408	T	0.33	-10.4605	20.6397	0.99537	0.0:0.0:1.0:0.0	.	808;1061	Q8NDV7-2;Q8NDV7	.;TNR6A_HUMAN	V	1061	ENSP00000326900:G1061V;ENSP00000379144:G1061V	ENSP00000326900:G1061V	G	+	2	0	TNRC6A	24712301	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.498000	0.81546	2.880000	0.98712	0.650000	0.86243	GGT		0.517	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		T	24804800	G	T	24804800	3	4	227	1	0	0	0	0	1	0	0	0	16340	1261	44	3	3208	3	TNRC6A	16	24804800	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09		24804800	65549953	66	12883											
DOC2A	8448	genome.wustl.edu	37	16	30020582	30020582	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr16:30020582C>G	ENST00000350119.4	-	4	548	c.358G>C	c.(358-360)Gat>Cat	p.D120H	DOC2A_ENST00000564979.1_Missense_Mutation_p.D120H|DOC2A_ENST00000564944.1_Missense_Mutation_p.D120H	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	120	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.D120H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCATTGAAATCCATGGGCTTG	0.647																																																1	Substitution - Missense(1)	ovary(1)	16											19	16	17					16																	30020582		2178	4278	6456	29928083	SO:0001583	missense	8448			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.358G>C	16.37:g.30020582C>G	ENSP00000340017:p.Asp120His		29928083	B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	37	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875095	0.91664	.	.	ENSG00000149927	ENST00000350119	T	0.56275	0.47	5.26	5.26	0.73747	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000030	D	0.83399	0.5246	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89963	0.4088	10	0.87932	D	0	.	16.363	0.83280	0.0:1.0:0.0:0.0	.	120	Q14183	DOC2A_HUMAN	H	120	ENSP00000340017:D120H	ENSP00000340017:D120H	D	-	1	0	DOC2A	29928083	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.268000	0.78473	2.470000	0.83445	0.491000	0.48974	GAT		0.647	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		G	30020582	C	G	30020582	3	3	227	1	0	0	0	0	1	0	0	0	4683	855	30	3	876	3	DOC2A	16	30020582	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	5215782	30020582	60334171	67	12884											
TP53	7157	genome.wustl.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	0.537		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"	113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(1)	17	GRCh37	CX952222	TP53	X							123	111	115					17																	7578203		2203	4300	6503	7518928	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.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met		7518928	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	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	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578203	C	T	7578203	3	4	227	1	0	0	0	0	1	0	0	0	16381	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09		7578203	73617007	68	12885											
DNAH9	1770	genome.wustl.edu	37	17	11672606	11672606	+	Silent	SNP	C	C	T	rs199937308		TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr17:11672606C>T	ENST00000262442.4	+	38	7580	c.7512C>T	c.(7510-7512)aaC>aaT	p.N2504N	DNAH9_ENST00000454412.2_Silent_p.N2504N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2504	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.N2504N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGTGAAAAACGTGCCATTCA	0.627													C|||	1	0.000199681	0	0	5008	,	,		18860	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	17											61	53	56					17																	11672606		2203	4300	6503	11613331	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7512C>T	17.37:g.11672606C>T			11613331	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.627	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11672606	C	T	11672606	2	4	227	1	0	0	0	0	0	0	0	1	4608	535	19	1		1	DNAH9	17	11672606	Silent	SNP	C	TCGA-24-1435-01A-01W-0549-09	4094403	11672606	69522604	69	12886											
RPL23A	6147	genome.wustl.edu	37	17	27050601	27050601	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr17:27050601G>C	ENST00000422514.2	+	4	1012	c.399G>C	c.(397-399)gaG>gaC	p.E133D	RPL23A_ENST00000472628.1_Missense_Mutation_p.E47D|SNORD42B_ENST00000458893.1_RNA|SNORD4A_ENST00000459174.1_RNA|RPL23A_ENST00000394938.4_Missense_Mutation_p.E171D|RPL23A_ENST00000496182.1_Missense_Mutation_p.E47D|SNORD4B_ENST00000459083.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	133					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.E133D(1)		endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					CTGATGGAGAGAAGAAGGCAT	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											159	152	155					17																	27050601		2203	4300	6503	24074728	SO:0001583	missense	6147			U43701	CCDS11241.1	17q11.2	2011-04-06			ENSG00000198242	ENSG00000198242		"L ribosomal proteins"	10317	protein-coding gene	gene with protein product		602326				9417910	Standard	NM_000984		Approved	L23A	uc002hci.3	P62750	OTTHUMG00000132684	ENST00000422514.2:c.399G>C	17.37:g.27050601G>C	ENSP00000389103:p.Glu133Asp		24074728	B2R5B2|P29316|P39024|Q92774	Missense_Mutation	SNP	ENST00000422514.2	37	CCDS11241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.50|16.50	3.140640|3.140640	0.56936|0.56936	.|.	.|.	ENSG00000198242|ENSG00000198242	ENST00000422514;ENST00000394938;ENST00000394935|ENST00000355731	T;T|.	0.46063|.	0.88;0.88|.	5.27|5.27	3.27|3.27	0.37495|0.37495	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.35838|.	U|.	0.002958|.	T|T	0.65048|0.65048	0.2654|0.2654	M|M	0.75447|0.75447	2.3|2.3	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.23990|.	0.095|.	B|.	0.35688|.	0.208|.	T|T	0.62081|0.62081	-0.6929|-0.6929	10|5	0.52906|.	T|.	0.07|.	-4.4278|-4.4278	8.4343|8.4343	0.32778|0.32778	0.2394:0.0:0.7606:0.0|0.2394:0.0:0.7606:0.0	.|.	133|.	P62750|.	RL23A_HUMAN|.	D|T	133;171;135|135	ENSP00000389103:E133D;ENSP00000378396:E171D|.	ENSP00000378393:E135D|.	E|R	+|+	3|2	2|0	RPL23A|RPL23A	24074728|24074728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	1.856000|1.856000	0.39389|0.39389	0.601000|0.601000	0.29879|0.29879	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.542	RPL23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255975.1	NM_000984		C	27050601	G	C	27050601	3	2	227	1	0	0	0	0	1	0	0	0	13574	933	33	3	413	3	RPL23A	17	27050601	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	15377995	27050601	54144609	70	12887											
CREB3L3	84699	genome.wustl.edu	37	19	4157240	4157240	+	Silent	SNP	A	A	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr19:4157240A>G	ENST00000078445.2	+	3	552	c.405A>G	c.(403-405)acA>acG	p.T135T	CREB3L3_ENST00000595923.1_Silent_p.T134T|CREB3L3_ENST00000602147.1_Silent_p.T135T|CREB3L3_ENST00000602257.1_Silent_p.T135T|CREB3L3_ENST00000252587.3_Silent_p.T125T	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	135					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.T135T(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCACCACAACCCCAGGGC	0.647																																																1	Substitution - coding silent(1)	ovary(1)	19											90	94	93					19																	4157240		2203	4300	6503	4108240	SO:0001819	synonymous_variant	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.405A>G	19.37:g.4157240A>G			4108240	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	CCDS12121.1																																																																																				0.647	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		G	4157240	A	G	4157240	2	3	227	1	0	0	0	0	0	0	0	1	3858	117	5	4		4	CREB3L3	19	4157240	Silent	SNP	A	TCGA-24-1435-01A-01W-0549-09		4157240	54971743	71	12888											
MUC16	94025	genome.wustl.edu	37	19	9068974	9068974	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr19:9068974G>T	ENST00000397910.4	-	3	18675	c.18472C>A	c.(18472-18474)Caa>Aaa	p.Q6158K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6160	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q6158K(1)|p.Q1791K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACCTGTTTGTGTGGCGATG	0.502																																																2	Substitution - Missense(2)	ovary(2)	19											71	75	73					19																	9068974		2121	4233	6354	8929974	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18472C>A	19.37:g.9068974G>T	ENSP00000381008:p.Gln6158Lys		8929974	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.222	-0.159410	0.06544	.	.	ENSG00000181143	ENST00000397910	T	0.02258	4.37	1.35	-1.26	0.09376	.	.	.	.	.	T	0.01661	0.0053	N	0.24115	0.695	.	.	.	B	0.16603	0.018	B	0.06405	0.002	T	0.43343	-0.9397	8	0.87932	D	0	.	3.3894	0.07283	0.0:0.2848:0.4264:0.2887	.	6158	B5ME49	.	K	6158	ENSP00000381008:Q6158K	ENSP00000381008:Q6158K	Q	-	1	0	MUC16	8929974	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.347000	0.07750	-0.266000	0.09339	0.163000	0.16589	CAA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9068974	G	T	9068974	3	4	227	1	0	0	0	0	1	0	0	0	9973	1386	48	3	25379	3	MUC16	19	9068974	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	4911734	9068974	50060009	72	12889											
MUC16	94025	genome.wustl.edu	37	19	9072137	9072137	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr19:9072137C>G	ENST00000397910.4	-	3	15512	c.15309G>C	c.(15307-15309)aaG>aaC	p.K5103N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5105	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.K736N(1)|p.K5103N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCCAGTATCTTATCTGAGG	0.418																																																2	Substitution - Missense(2)	ovary(2)	19											157	143	147					19																	9072137		1902	4136	6038	8933137	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15309G>C	19.37:g.9072137C>G	ENSP00000381008:p.Lys5103Asn		8933137	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.414	-0.334766	0.05278	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	1.71	-3.42	0.04825	.	.	.	.	.	T	0.10423	0.0255	N	0.08118	0	.	.	.	B	0.17268	0.021	B	0.06405	0.002	T	0.24584	-1.0156	8	0.87932	D	0	.	3.8438	0.08926	0.4633:0.3066:0.2301:0.0	.	5103	B5ME49	.	N	5103	ENSP00000381008:K5103N	ENSP00000381008:K5103N	K	-	3	2	MUC16	8933137	0.000000	0.05858	0.000000	0.03702	0.509000	0.34042	-1.861000	0.01654	-0.648000	0.05437	0.109000	0.15622	AAG		0.418	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9072137	C	G	9072137	3	3	227	1	0	0	0	0	1	0	0	0	9973	912	32	3	28542	3	MUC16	19	9072137	Missense_Mutation	SNP	C	TCGA-24-1435-01A-01W-0549-09	3163	9072137	50056846	73	12890											
OTOR	56914	genome.wustl.edu	37	20	16729556	16729556	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr20:16729556G>A	ENST00000246081.2	+	2	204	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	54	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)		p.D54N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TAATGCCCCGGACTGTAGATT	0.363																																																1	Substitution - Missense(1)	ovary(1)	20											71	73	72					20																	16729556		2203	4300	6503	16677556	SO:0001583	missense	56914			AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.160G>A	20.37:g.16729556G>A	ENSP00000246081:p.Asp54Asn		16677556	D3DW22|Q3MIU6	Missense_Mutation	SNP	ENST00000246081.2	37	CCDS13124.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088088	0.94100	.	.	ENSG00000125879	ENST00000246081	D	0.85171	-1.95	5.93	5.93	0.95920	Src homology-3 domain (2);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.94026	0.8086	M	0.90309	3.105	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94419	0.7639	10	0.72032	D	0.01	-16.3856	18.5344	0.91004	0.0:0.0:1.0:0.0	.	54	Q9NRC9	OTOR_HUMAN	N	54	ENSP00000246081:D54N	ENSP00000246081:D54N	D	+	1	0	OTOR	16677556	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	8.069000	0.89491	2.826000	0.97356	0.655000	0.94253	GAC		0.363	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2			A	16729556	G	A	16729556	3	1	227	1	0	0	0	0	1	0	0	0	11308	1174	41	2	166	2	OTOR	20	16729556	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09		16729556	46295964	74	12891											
SEC14L3	266629	genome.wustl.edu	37	22	30858108	30858108	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chr22:30858108T>C	ENST00000215812.4	-	9	826	c.736A>G	c.(736-738)Act>Gct	p.T246A	SEC14L3_ENST00000402286.1_Missense_Mutation_p.T169A|SEC14L3_ENST00000415957.2_Missense_Mutation_p.T187A|SEC14L3_ENST00000539629.1_Missense_Mutation_p.T187A|SEC14L3_ENST00000403066.1_Missense_Mutation_p.T187A|SEC14L3_ENST00000401751.1_Missense_Mutation_p.T187A|SEC14L3_ENST00000540910.1_Missense_Mutation_p.T169A	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	246	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.T246A(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTGGGTCAGTCAGGGTGCCC	0.507																																					Esophageal Squamous(108;290 1516 3584 23771 37333)											1	Substitution - Missense(1)	ovary(1)	22											93	82	86					22																	30858108		2203	4300	6503	29188108	SO:0001583	missense	266629			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.736A>G	22.37:g.30858108T>C	ENSP00000215812:p.Thr246Ala		29188108	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	CCDS13877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.91|16.91	3.252952|3.252952	0.59212|0.59212	.|.	.|.	ENSG00000100012|ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910|ENST00000435069	T;T;T;T;T;T;T|.	0.60548|.	0.18;0.18;0.18;1.73;0.18;0.18;1.73|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Cellular retinaldehyde-binding/triple function, C-terminal (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77864|.	0.4194|.	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	B;B|.	0.25235|.	0.121;0.013|.	B;B|.	0.19148|.	0.024;0.012|.	T|.	0.80118|.	-0.1516|.	10|.	0.54805|.	T|.	0.06|.	-13.0553|-13.0553	15.2524|15.2524	0.73559|0.73559	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	169;246|.	E9PE57;Q9UDX4|.	.;S14L3_HUMAN|.	A|W	187;187;246;169;187;187;169|211	ENSP00000385941:T187A;ENSP00000401864:T187A;ENSP00000215812:T246A;ENSP00000385004:T169A;ENSP00000383896:T187A;ENSP00000444691:T187A;ENSP00000439752:T169A|.	ENSP00000215812:T246A|.	T|X	-|-	1|3	0|0	SEC14L3|SEC14L3	29188108|29188108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.778000|4.778000	0.62368|0.62368	2.145000|2.145000	0.66743|0.66743	0.533000|0.533000	0.62120|0.62120	ACT|TGA		0.507	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		C	30858108	T	C	30858108	3	2	227	1	0	0	0	0	1	0	0	0	13986	1667	58	4	482	4	SEC14L3	22	30858108	Missense_Mutation	SNP	T	TCGA-24-1435-01A-01W-0549-09		30858108	20446458	75	12892											
XG	7499	genome.wustl.edu	37	X	2729383	2729383	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chrX:2729383T>C	ENST00000381174.5	+	9	641	c.416T>C	c.(415-417)aTg>aCg	p.M139T	XG_ENST00000426774.1_Missense_Mutation_p.M140T|XG_ENST00000419513.2_Missense_Mutation_p.M154T|snoU13_ENST00000516039.1_RNA			P55808	XG_HUMAN	Xg blood group	139						integral component of plasma membrane (GO:0005887)		p.M139T(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGGCAATATGGTAGCAAAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											51	48	49					X																	2729383		2203	4298	6501	2739383	SO:0001583	missense	7499			AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"Blood group antigens", "Pseudoautosomal regions / PAR1"	12806	protein-coding gene	gene with protein product		300879	"Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.416T>C	X.37:g.2729383T>C	ENSP00000370566:p.Met139Thr		2739383	E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	T	1.900	-0.453427	0.04540	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484;ENST00000533923	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	3.58	1.43	0.22495	.	2.178760	0.02607	N	0.101685	T	0.05914	0.0154	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34576	-0.9823	10	0.07325	T	0.83	.	4.0654	0.09857	0.0:0.6032:0.2202:0.1766	.	139;154	P55808;P55808-3	XG_HUMAN;.	T	139;154;140;117;1	ENSP00000370566:M139T;ENSP00000411004:M154T;ENSP00000398503:M140T;ENSP00000430005:M117T	ENSP00000370566:M139T	M	+	2	0	XG	2739383	0.000000	0.05858	0.002000	0.10522	0.161000	0.22273	-1.013000	0.03645	-0.027000	0.13873	0.303000	0.19852	ATG		0.438	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		C	2729383	T	C	2729383	3	2	227	1	0	0	0	0	1	0	0	0	17427	1464	51	4	502	4	XG	23	2729383	Missense_Mutation	SNP	T	TCGA-24-1435-01A-01W-0549-09		2729383	152541177	76	12893											
IQSEC2	23096	genome.wustl.edu	37	X	53283901	53283901	+	Silent	SNP	C	C	T	rs370611796		TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chrX:53283901C>T	ENST00000375368.5	-	3	1382	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	IQSEC2_ENST00000396435.3_Silent_p.A404A|IQSEC2_ENST00000375365.2_Silent_p.A199A			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	394					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.A401A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCTCGAAGTACGCGGGGTTCT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	X						C	,	1,3834		0,1,1631,571	41	26	31		1212,597	2	1	X		31	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	IQSEC2	NM_001111125.2,NM_015075.1	,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,	404/1489,199/950	53283901	1,10562	2203	4300	6503	53300626	SO:0001819	synonymous_variant	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1182G>A	X.37:g.53283901C>T			53300626	B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37																																																																																					0.627	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		T	53283901	C	T	53283901	2	4	227	1	0	0	0	0	0	0	0	1	7818	523	19	1		1	IQSEC2	23	53283901	Silent	SNP	C	TCGA-24-1435-01A-01W-0549-09	50554518	53283901	101986659	77	12894											
LAS1L	81887	genome.wustl.edu	37	X	64744051	64744051	+	Silent	SNP	C	C	G	rs373278066		TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chrX:64744051C>G	ENST00000374811.3	-	10	1225	c.1185G>C	c.(1183-1185)acG>acC	p.T395T	LAS1L_ENST00000374804.5_Silent_p.T336T|LAS1L_ENST00000374807.5_Silent_p.T378T|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	395					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.T395T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATAGGGCCTGCGTGAAGTTCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	X											44	38	40					X																	64744051		2203	4300	6503	64660776	SO:0001819	synonymous_variant	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.1185G>C	X.37:g.64744051C>G			64660776	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	CCDS14381.1																																																																																				0.572	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		G	64744051	C	G	64744051	2	3	227	1	0	0	0	0	0	0	0	1	8636	755	27	3		3	LAS1L	23	64744051	Silent	SNP	C	TCGA-24-1435-01A-01W-0549-09	11460150	64744051	90526509	78	12895											
SPANXN3	139067	genome.wustl.edu	37	X	142596669	142596669	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1435-01A-01W-0549-09	TCGA-24-1435-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	28d236f6-dddc-48c2-be30-b1568a4d6055	e04c70ce-9ef3-41b0-b45e-73e1c22c8472	g.chrX:142596669G>C	ENST00000370503.2	-	2	484	c.401C>G	c.(400-402)tCt>tGt	p.S134C	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	134								p.S134C(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGTGAAGATCCTTCAGA	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											136	111	119					X																	142596669		2203	4300	6503	142424335	SO:0001583	missense	139067				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.401C>G	X.37:g.142596669G>C	ENSP00000359534:p.Ser134Cys		142424335	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	g	7.917	0.737768	0.15574	.	.	ENSG00000189252	ENST00000370503	T	0.11604	2.76	0.695	0.695	0.18070	.	.	.	.	.	T	0.17874	0.0429	L	0.38838	1.175	0.09310	N	1	D	0.67145	0.996	D	0.64506	0.926	T	0.14008	-1.0488	8	0.48119	T	0.1	.	.	.	.	.	134	Q5MJ09	SPXN3_HUMAN	C	134	ENSP00000359534:S134C	ENSP00000359534:S134C	S	-	2	0	SPANXN3	142424335	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.261000	0.08694	0.633000	0.30452	0.368000	0.22195	TCT		0.443	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		C	142596669	G	C	142596669	3	2	227	1	0	0	0	0	1	0	0	0	14995	942	33	3	28	3	SPANXN3	23	142596669	Missense_Mutation	SNP	G	TCGA-24-1435-01A-01W-0549-09	77852618	142596669	12673891	79	12896											
MIER1	57708	genome.wustl.edu	37	1	67411870	67411870	+	Silent	SNP	A	A	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr1:67411870A>G	ENST00000355356.3	+	3	221	c.72A>G	c.(70-72)ccA>ccG	p.P24P	MIER1_ENST00000371016.1_Silent_p.P41P|MIER1_ENST00000357692.2_Silent_p.P41P|MIER1_ENST00000371012.2_Silent_p.P41P|MIER1_ENST00000371018.3_Silent_p.P41P|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000401042.3_Silent_p.P24P|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401041.1_Silent_p.P77P|MIER1_ENST00000371014.1_Silent_p.P77P	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	24					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.P24P(2)|p.P77P(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AATTTGATCCATCAGCTGACA	0.348																																																3	Substitution - coding silent(3)	lung(2)|ovary(1)	1											119	108	111					1																	67411870		1854	4092	5946	67184458	SO:0001819	synonymous_variant	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.72A>G	1.37:g.67411870A>G			67184458	C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	CCDS41348.1																																																																																				0.348	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		G	67411870	A	G	67411870	2	3	228	1	0	0	0	0	0	0	0	1	9580	204	8	4		4	MIER1	1	67411870	Silent	SNP	A	TCGA-24-1436-01A-01W-0549-09		67411870	181838751	1	12897											
FAM40A	85369	genome.wustl.edu	37	1	110587643	110587643	+	Silent	SNP	G	G	A	rs143183603	byFrequency	TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr1:110587643G>A	ENST00000369795.3	+	12	1381	c.1359G>A	c.(1357-1359)acG>acA	p.T453T	STRIP1_ENST00000369796.1_Silent_p.T358T	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	453					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.T453T(1)									CCAGTGACACGAACACAGTGG	0.512													G|||	4	0.000798722	0.003	0	5008	,	,		15888	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1						G		8,4398	14.3+/-33.2	0,8,2195	114	113	113		1359	-10.2	0.4	1	dbSNP_134	113	0,8600		0,0,4300	no	coding-synonymous	FAM40A	NM_033088.2		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		453/838	110587643	8,12998	2203	4300	6503	110389166	SO:0001819	synonymous_variant	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1359G>A	1.37:g.110587643G>A			110389166	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	CCDS30798.1																																																																																				0.512	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		A	110587643	G	A	110587643	2	1	228	1	0	0	0	0	0	0	0	1	5560	1045	37	1		1	FAM40A	1	110587643	Silent	SNP	G	TCGA-24-1436-01A-01W-0549-09	43175773	110587643	138662978	2	12898											
NUP210L	91181	genome.wustl.edu	37	1	154018594	154018594	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr1:154018594C>A	ENST00000368559.3	-	27	3718	c.3647G>T	c.(3646-3648)tGg>tTg	p.W1216L	NUP210L_ENST00000271854.3_Missense_Mutation_p.W1216L|NUP210L_ENST00000368553.1_Missense_Mutation_p.W149L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1216					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.W1216L(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCTCATAGACCAGTGGAATGT	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											100	90	93					1																	154018594		1879	4119	5998	152285218	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3647G>T	1.37:g.154018594C>A	ENSP00000357547:p.Trp1216Leu		152285218	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825076	0.90955	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;D;T	0.86432	-0.58;-2.12;-0.55	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000010	D	0.92011	0.7469	M	0.72353	2.195	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.92674	0.6152	10	0.87932	D	0	-27.7325	17.1477	0.86770	0.0:1.0:0.0:0.0	.	1216;1216	E7EP56;Q5VU65	.;P210L_HUMAN	L	1216;149;1216	ENSP00000357547:W1216L;ENSP00000357541:W149L;ENSP00000271854:W1216L	ENSP00000271854:W1216L	W	-	2	0	NUP210L	152285218	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.538000	0.73852	2.582000	0.87167	0.650000	0.86243	TGG		0.418	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	154018594	C	A	154018594	3	1	228	1	0	0	0	0	1	0	0	0	10761	595	21	3	2075	3	NUP210L	1	154018594	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09	43430951	154018594	95232027	3	12899											
UAP1	6675	genome.wustl.edu	37	1	162569083	162569083	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr1:162569083A>G	ENST00000367925.1	+	10	1531	c.1499A>G	c.(1498-1500)gAt>gGt	p.D500G	UAP1_ENST00000367924.1_Missense_Mutation_p.D499G|UAP1_ENST00000271469.3_Missense_Mutation_p.D500G|UAP1_ENST00000367926.4_Missense_Mutation_p.D483G			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	500					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.D483G(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TATGTGGCAGATAAAGAATTC	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											99	93	95					1																	162569083		2203	4300	6503	160835707	SO:0001583	missense	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1499A>G	1.37:g.162569083A>G	ENSP00000356902:p.Asp500Gly		160835707	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37		.	.	.	.	.	.	.	.	.	.	A	2.904	-0.226904	0.06022	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.55	2.06	0.26882	.	0.206543	0.51477	D	0.000092	T	0.00906	0.0030	N	0.00408	-1.53	0.31486	N	0.666553	B	0.02656	0.0	B	0.04013	0.001	T	0.49331	-0.8951	9	0.02654	T	1	-15.8219	8.9991	0.36069	0.7879:0.0:0.2121:0.0	.	483	Q16222-2	.	G	483;500;500;499	ENSP00000356903:D483G;ENSP00000271469:D500G;ENSP00000356902:D500G;ENSP00000356901:D499G	ENSP00000271469:D500G	D	+	2	0	UAP1	160835707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.953000	0.49105	0.934000	0.37316	0.533000	0.62120	GAT		0.363	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		G	162569083	A	G	162569083	3	3	228	1	0	0	0	0	1	0	0	0	16825	333	12	4	1482	4	UAP1	1	162569083	Missense_Mutation	SNP	A	TCGA-24-1436-01A-01W-0549-09	8550489	162569083	86681538	4	12900											
SERPINC1	462	genome.wustl.edu	37	1	173873145	173873145	+	Missense_Mutation	SNP	G	G	A	rs121909550		TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr1:173873145G>A	ENST00000367698.3	-	7	1395	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	426		Reactive bond.	S -> L (in AT3D; type-II; Denver/Milano- 2; deprived of inhibitory activity). {ECO:0000269|PubMed:15164384, ECO:0000269|PubMed:3805013, ECO:0000269|PubMed:9031473}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S426L(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GGGGTTTAGCGAACGGCCAGC	0.468																																																1	Substitution - Missense(1)	ovary(1)	1	GRCh37	CM890019	SERPINC1	M	rs121909550						80	77	78					1																	173873145		2203	4300	6503	172139768	SO:0001583	missense	462			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1277C>T	1.37:g.173873145G>A	ENSP00000356671:p.Ser426Leu		172139768	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130691	0.94473	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.84223	-1.82	5.74	5.74	0.90152	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	M	0.85777	2.775	0.80722	A	1	D	0.89917	1.0	D	0.79784	0.993	D	0.89643	0.3864	9	0.30854	T	0.27	.	19.5507	0.95319	0.0:0.0:1.0:0.0	.	426	P01008	ANT3_HUMAN	L	426;221	ENSP00000356671:S426L	ENSP00000307953:S221L	S	-	2	0	SERPINC1	172139768	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.021000	0.93673	2.712000	0.92718	0.650000	0.86243	TCG		0.468	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		A	173873145	G	A	173873145	3	1	228	1	0	0	0	0	1	0	0	0	14112	1059	37	1	121	1	SERPINC1	1	173873145	Missense_Mutation	SNP	G	TCGA-24-1436-01A-01W-0549-09	11304062	173873145	75377476	5	12901											
PAPPA2	60676	genome.wustl.edu	37	1	176668566	176668566	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr1:176668566A>G	ENST00000367662.3	+	8	4241	c.3077A>G	c.(3076-3078)gAt>gGt	p.D1026G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1026					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1026G(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TACACCTTTGATGAGAGGATA	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											129	135	133					1																	176668566		2093	4228	6321	174935189	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3077A>G	1.37:g.176668566A>G	ENSP00000356634:p.Asp1026Gly		174935189	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705356	0.68615	.	.	ENSG00000116183	ENST00000367662	T	0.40756	1.02	5.38	5.38	0.77491	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	M	0.76002	2.32	0.80722	D	1	B	0.28419	0.211	B	0.29267	0.1	T	0.51880	-0.8649	10	0.87932	D	0	-20.553	15.2247	0.73342	1.0:0.0:0.0:0.0	.	1026	Q9BXP8	PAPP2_HUMAN	G	1026	ENSP00000356634:D1026G	ENSP00000356634:D1026G	D	+	2	0	PAPPA2	174935189	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.413000	0.90235	2.254000	0.74563	0.533000	0.62120	GAT		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			G	176668566	A	G	176668566	3	3	228	1	0	0	0	0	1	0	0	0	11433	333	12	4	3156	4	PAPPA2	1	176668566	Missense_Mutation	SNP	A	TCGA-24-1436-01A-01W-0549-09	2795421	176668566	72582055	6	12902											
NLRP3	114548	genome.wustl.edu	37	1	247607359	247607359	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr1:247607359C>G	ENST00000336119.3	+	7	3501	c.2755C>G	c.(2755-2757)Ctg>Gtg	p.L919V	NLRP3_ENST00000366497.2_Missense_Mutation_p.L862V|NLRP3_ENST00000348069.2_Missense_Mutation_p.L805V|NLRP3_ENST00000391827.2_Missense_Mutation_p.L862V|NLRP3_ENST00000366496.2_Missense_Mutation_p.L862V|NLRP3_ENST00000391828.3_Missense_Mutation_p.L919V	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	919					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L919V(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACCTTTACCTGCGAGGCAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											187	152	164					1																	247607359		2203	4300	6503	245673982	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2755C>G	1.37:g.247607359C>G	ENSP00000337383:p.Leu919Val		245673982	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139016	0.56936	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.06	3.15	0.36227	.	0.000000	0.37136	N	0.002230	D	0.83977	0.5371	M	0.83118	2.625	0.30016	N	0.814763	D;P;D;D;P	0.89917	0.999;0.929;1.0;0.968;0.939	D;P;D;P;P	0.83275	0.989;0.554;0.996;0.873;0.633	T	0.79130	-0.1930	10	0.51188	T	0.08	.	7.7001	0.28617	0.0:0.8873:0.0:0.1127	.	899;862;805;862;919	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	V	919;862;919;805;862;862	ENSP00000375704:L919V;ENSP00000355453:L862V;ENSP00000337383:L919V;ENSP00000294752:L805V;ENSP00000355452:L862V;ENSP00000375703:L862V	ENSP00000337383:L919V	L	+	1	2	NLRP3	245673982	0.959000	0.32827	0.980000	0.43619	0.857000	0.48899	0.770000	0.26618	1.298000	0.44778	0.549000	0.68633	CTG		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		G	247607359	C	G	247607359	3	3	228	1	0	0	0	0	1	0	0	0	10478	680	24	3	2781	3	NLRP3	1	247607359	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09	70938793	247607359	1643262	7	12903											
ABCB11	8647	genome.wustl.edu	37	2	169801416	169801416	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr2:169801416A>G	ENST00000263817.6	-	20	2523	c.2399T>C	c.(2398-2400)cTa>cCa	p.L800P		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	800	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.L800P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TACAAAAAGTAGGCACACACC	0.308																																																1	Substitution - Missense(1)	ovary(1)	2											32	29	30					2																	169801416		1816	4082	5898	169509662	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2399T>C	2.37:g.169801416A>G	ENSP00000263817:p.Leu800Pro		169509662	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335552	0.81801	.	.	ENSG00000073734	ENST00000263817	D	0.91686	-2.89	5.76	5.76	0.90799	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.953382	0.08815	N	0.889703	D	0.96445	0.8840	M	0.80422	2.495	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71656	0.974;0.939	D	0.93500	0.6843	10	0.87932	D	0	.	16.0586	0.80822	1.0:0.0:0.0:0.0	.	242;800	B4DZQ8;O95342	.;ABCBB_HUMAN	P	800	ENSP00000263817:L800P	ENSP00000263817:L800P	L	-	2	0	ABCB11	169509662	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	8.936000	0.92931	2.187000	0.69744	0.528000	0.53228	CTA		0.308	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		G	169801416	A	G	169801416	3	3	228	1	0	0	0	0	1	0	0	0	42	420	15	4	1602	4	ABCB11	2	169801416	Missense_Mutation	SNP	A	TCGA-24-1436-01A-01W-0549-09		169801416	73397957	8	12904											
LAMB2	3913	genome.wustl.edu	37	3	49159423	49159423	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr3:49159423C>G	ENST00000418109.1	-	30	5041	c.4877G>C	c.(4876-4878)cGg>cCg	p.R1626P	USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1626P|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1626	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1626P(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACTGCCCCCCGGATGGCACC	0.602																																																1	Substitution - Missense(1)	ovary(1)	3											102	97	99					3																	49159423		2203	4300	6503	49134427	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4877G>C	3.37:g.49159423C>G	ENSP00000388325:p.Arg1626Pro		49134427	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826649	0.32329	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.35236	1.32;1.32	5.55	-2.35	0.06684	.	0.943055	0.08994	N	0.864045	T	0.30854	0.0778	L	0.50333	1.59	0.09310	N	1	P	0.38617	0.64	B	0.35510	0.204	T	0.20806	-1.0264	10	0.49607	T	0.09	.	12.3465	0.55124	0.0:0.4809:0.0:0.5191	.	1626	P55268	LAMB2_HUMAN	P	1626;1626;350	ENSP00000388325:R1626P;ENSP00000307156:R1626P	ENSP00000307156:R1626P	R	-	2	0	LAMB2	49134427	0.000000	0.05858	0.884000	0.34674	0.972000	0.66771	-0.391000	0.07323	-0.681000	0.05204	-0.140000	0.14226	CGG		0.602	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		G	49159423	C	G	49159423	3	3	228	1	0	0	0	0	1	0	0	0	8611	652	23	3	535	3	LAMB2	3	49159423	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09		49159423	148863007	9	12905											
PLD1	5337	genome.wustl.edu	37	3	171338240	171338240	+	Silent	SNP	T	T	C			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr3:171338240T>C	ENST00000351298.4	-	24	2790	c.2664A>G	c.(2662-2664)ctA>ctG	p.L888L	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Silent_p.L888L|PLD1_ENST00000356327.5_Silent_p.L850L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	888	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.L888L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCTCAGTTACTAGGTTTCCTT	0.318																																					NSCLC(149;2174 3517 34058)											1	Substitution - coding silent(1)	ovary(1)	3											132	127	128					3																	171338240		2203	4300	6503	172820934	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2664A>G	3.37:g.171338240T>C			172820934		Silent	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	0.547	-0.850908	0.02651	.	.	ENSG00000075651	ENST00000446289	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0791	5.1435	0.14971	0.3023:0.4405:0.0755:0.1817	.	.	.	.	W	151	.	.	X	-	2	0	PLD1	172820934	0.000000	0.05858	0.665000	0.29768	0.096000	0.18686	-4.276000	0.00261	-1.928000	0.01059	-0.669000	0.03829	TAG		0.318	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		C	171338240	T	C	171338240	2	2	228	1	0	0	0	0	0	0	0	1	12045	1509	53	4		4	PLD1	3	171338240	Silent	SNP	T	TCGA-24-1436-01A-01W-0549-09	122178817	171338240	26684190	10	12906											
GPR78	27201	genome.wustl.edu	37	4	8582892	8582892	+	Silent	SNP	C	C	T			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr4:8582892C>T	ENST00000382487.4	+	1	600	c.183C>T	c.(181-183)ccC>ccT	p.P61P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	61					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P61P(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGGACATGCCCTTCACGCTGC	0.672																																																1	Substitution - coding silent(1)	ovary(1)	4											28	32	31					4																	8582892		2203	4300	6503	8633792	SO:0001819	synonymous_variant	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.183C>T	4.37:g.8582892C>T			8633792	Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																				0.672	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			T	8582892	C	T	8582892	2	4	228	1	0	0	0	0	0	0	0	1	6710	668	24	2		2	GPR78	4	8582892	Silent	SNP	C	TCGA-24-1436-01A-01W-0549-09		8582892	182571384	11	12907											
SLIT2	9353	genome.wustl.edu	37	4	20619224	20619224	+	Silent	SNP	G	G	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	A	G	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr4:20619224G>A	ENST00000504154.1	+	36	4551	c.4299G>A	c.(4297-4299)caG>caA	p.Q1433Q	SLIT2_ENST00000503837.1_Silent_p.Q1429Q|SLIT2_ENST00000503823.1_Silent_p.Q1425Q|SLIT2_ENST00000273739.5_Silent_p.Q1446Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1433					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.Q1433Q(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTCTGGGGCAGCCCTACTGTG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	4											85	74	78					4																	20619224		2203	4300	6503	20228322	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4299G>A	4.37:g.20619224G>A			20228322	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																				0.567	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20619224	G	A	20619224	2	1	228	1	0	0	0	0	0	0	0	1	14743	962	34	2		2	SLIT2	4	20619224	Silent	SNP	G	TCGA-24-1436-01A-01W-0549-09	12036332	20619224	170535052	12	12908											
C5orf22	55322	genome.wustl.edu	37	5	31538630	31538630	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr5:31538630C>G	ENST00000325366.9	+	4	768	c.641C>G	c.(640-642)aCt>aGt	p.T214S	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	214								p.T214S(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AGTGACCAGACTTGCCTAGAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											69	65	66					5																	31538630		2203	4300	6503	31574387	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.641C>G	5.37:g.31538630C>G	ENSP00000326879:p.Thr214Ser		31574387	Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	C	1.381	-0.583344	0.03827	.	.	ENSG00000082213	ENST00000325366	T	0.29655	1.56	5.37	4.49	0.54785	.	0.732493	0.14077	N	0.342983	T	0.27349	0.0671	L	0.47716	1.5	0.23215	N	0.998109	B	0.10296	0.003	B	0.15052	0.012	T	0.16070	-1.0415	10	0.49607	T	0.09	-3.2283	8.5178	0.33257	0.1403:0.7459:0.0:0.1138	.	214	Q49AR2	CE022_HUMAN	S	214	ENSP00000326879:T214S	ENSP00000326879:T214S	T	+	2	0	C5orf22	31574387	0.014000	0.17966	0.002000	0.10522	0.085000	0.17905	1.111000	0.31159	1.471000	0.48121	0.655000	0.94253	ACT		0.458	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		G	31538630	C	G	31538630	3	3	228	1	0	0	0	0	1	0	0	0	2285	565	20	3	655	3	C5orf22	5	31538630	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09		31538630	149376630	13	12909											
TRIM23	373	genome.wustl.edu	37	5	64909990	64909990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr5:64909990G>A	ENST00000231524.9	-	3	672	c.301C>T	c.(301-303)Cga>Tga	p.R101*	TRIM23_ENST00000381018.3_Nonsense_Mutation_p.R101*|TRIM23_ENST00000274327.7_Nonsense_Mutation_p.R101*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	101					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R101*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TTCTGCAGTCGTTCCAAAAGC	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	5											117	123	121					5																	64909990		2203	4300	6503	64945746	SO:0001587	stop_gained	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.301C>T	5.37:g.64909990G>A	ENSP00000231524:p.Arg101*		64945746	Q9BZY4|Q9BZY5	Nonsense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618182	0.87359	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	.	.	.	5.25	3.45	0.39498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9968	0.41905	0.0721:0.0:0.7895:0.1384	.	.	.	.	X	101	.	ENSP00000231524:R101X	R	-	1	2	TRIM23	64945746	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.087000	0.57671	0.589000	0.29677	0.585000	0.79938	CGA		0.363	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		A	64909990	G	A	64909990	4	1	228	1	0	0	0	0	0	1	0	0	16497	1153	40	1	1526	1	TRIM23	5	64909990	Nonsense_Mutation	SNP	G	TCGA-24-1436-01A-01W-0549-09	33371360	64909990	116005270	14	12910											
GPLD1	2822	genome.wustl.edu	37	6	24462991	24462991	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr6:24462991A>G	ENST00000230036.1	-	11	964	c.854T>C	c.(853-855)aTt>aCt	p.I285T		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	285					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.I285T(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCCACATGCAATGAACAGAGG	0.448																																																1	Substitution - Missense(1)	ovary(1)	6											138	137	138					6																	24462991		2203	4300	6503	24570970	SO:0001583	missense	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.854T>C	6.37:g.24462991A>G	ENSP00000230036:p.Ile285Thr		24570970	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718550	0.30503	.	.	ENSG00000112293	ENST00000230036	T	0.67345	-0.26	5.92	5.92	0.95590	.	0.073640	0.53938	D	0.000055	T	0.68970	0.3059	M	0.78637	2.42	0.80722	D	1	D	0.61080	0.989	P	0.52159	0.691	T	0.73729	-0.3891	10	0.51188	T	0.08	-24.4559	13.8758	0.63651	1.0:0.0:0.0:0.0	.	285	P80108	PHLD_HUMAN	T	285	ENSP00000230036:I285T	ENSP00000230036:I285T	I	-	2	0	GPLD1	24570970	0.999000	0.42202	0.925000	0.36789	0.065000	0.16274	5.425000	0.66470	2.255000	0.74692	0.533000	0.62120	ATT		0.448	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		G	24462991	A	G	24462991	3	3	228	1	0	0	0	0	1	0	0	0	6614	101	4	4	1728	4	GPLD1	6	24462991	Missense_Mutation	SNP	A	TCGA-24-1436-01A-01W-0549-09		24462991	146652076	15	12911											
CDC5L	988	genome.wustl.edu	37	6	44394441	44394441	+	Frame_Shift_Del	DEL	T	T	-			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr6:44394441delT	ENST00000371477.3	+	13	2172	c.1873delT	c.(1873-1875)tccfs	p.S625fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	625	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)	p.S625fs*5(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGAAAAGTTCTCCAAAGAAGA	0.343																																																1	Deletion - Frameshift(1)	ovary(1)	6											80	80	80					6																	44394441		2203	4299	6502	44502419	SO:0001589	frameshift_variant	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1873delT	6.37:g.44394441delT	ENSP00000360532:p.Ser625fs		44502419	Q76N46|Q99974	Frame_Shift_Del	DEL	ENST00000371477.3	37	CCDS4912.1																																																																																				0.343	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			-	44394441	T	-	44394441	7	5	228	1	0	1	0	1	0	0	0	0	3082	1551	54	0	1923	0	CDC5L	6	44394441	Frame_Shift_Del	DEL	T	TCGA-24-1436-01A-01W-0549-09	19931450	44394441	126720626	16	12912											
ABCB4	5244	genome.wustl.edu	37	7	87035712	87035712	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr7:87035712A>C	ENST00000265723.4	-	26	3510	c.3399T>G	c.(3397-3399)atT>atG	p.I1133M	ABCB4_ENST00000545634.1_Missense_Mutation_p.I1126M|ABCB4_ENST00000358400.3_Missense_Mutation_p.I1079M|ABCB4_ENST00000359206.3_Missense_Mutation_p.I1126M|ABCB4_ENST00000453593.1_Missense_Mutation_p.I1079M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1133	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.I1126M(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TATTCTCGGCAATGCTGCAGT	0.478																																																1	Substitution - Missense(1)	ovary(1)	7											155	149	151					7																	87035712		2203	4300	6503	86873648	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3399T>G	7.37:g.87035712A>C	ENSP00000265723:p.Ile1133Met		86873648	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447194	0.63178	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09	5.81	2.19	0.27852	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.060013	0.64402	D	0.000003	D	0.95893	0.8663	M	0.89785	3.06	0.48762	D	0.999708	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.87578	0.998;0.978;0.987	D	0.94837	0.8001	10	0.87932	D	0	-16.7092	9.2334	0.37450	0.7205:0.0:0.2795:0.0	.	1079;1126;1133	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	M	1126;1079;1133;1079;1126	ENSP00000352135:I1126M;ENSP00000351172:I1079M;ENSP00000265723:I1133M;ENSP00000392983:I1079M;ENSP00000437465:I1126M	ENSP00000265723:I1133M	I	-	3	3	ABCB4	86873648	0.424000	0.25490	0.996000	0.52242	0.982000	0.71751	-0.132000	0.10467	0.479000	0.27511	0.455000	0.32223	ATT		0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		C	87035712	A	C	87035712	3	2	228	1	0	0	0	0	1	0	0	0	43	126	5	5	473	5	ABCB4	7	87035712	Missense_Mutation	SNP	A	TCGA-24-1436-01A-01W-0549-09		87035712	72102951	17	12913											
CSMD1	64478	genome.wustl.edu	37	8	2964060	2964060	+	Silent	SNP	T	T	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr8:2964060T>A	ENST00000520002.1	-	47	7497	c.6942A>T	c.(6940-6942)ccA>ccT	p.P2314P	CSMD1_ENST00000400186.3_Silent_p.P2314P|CSMD1_ENST00000542608.1_Silent_p.P2313P|CSMD1_ENST00000537824.1_Silent_p.P2313P|CSMD1_ENST00000602557.1_Silent_p.P2314P|CSMD1_ENST00000602723.1_Silent_p.P2314P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2314	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.P2042P(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)		CTTCACATGTTGGGAGAGAAC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	8											56	54	55					8																	2964060		1898	4135	6033	2951467	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.6942A>T	8.37:g.2964060T>A			2951467	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	T	0.216	-1.032674	0.02029	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.49592	0.1566	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63256	-0.6678	4	.	.	.	.	11.3641	0.49662	0.0:0.2481:0.5518:0.2001	.	.	.	.	Y	1794	.	.	N	-	1	0	CSMD1	2951467	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	-0.949000	0.03893	-2.443000	0.00548	-1.272000	0.01410	AAC		0.423	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2964060	T	A	2964060	2	1	228	1	0	0	0	0	0	0	0	1	3944	1799	63	5		5	CSMD1	8	2964060	Silent	SNP	T	TCGA-24-1436-01A-01W-0549-09		2964060	143399962	18	12914											
SGCZ	137868	genome.wustl.edu	37	8	13948087	13948087	+	Silent	SNP	A	A	T			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr8:13948087A>T	ENST00000382080.1	-	8	1519	c.804T>A	c.(802-804)tcT>tcA	p.S268S	SGCZ_ENST00000421524.2_Silent_p.S221S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	255					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.S268S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGGGTGAAGAAGATGAGAAGG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	8											124	116	119					8																	13948087		2203	4300	6503	13992458	SO:0001819	synonymous_variant	137868			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.804T>A	8.37:g.13948087A>T			13992458	Q6REU0	Silent	SNP	ENST00000382080.1	37	CCDS5992.2																																																																																				0.408	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		T	13948087	A	T	13948087	2	4	228	1	0	0	0	0	0	0	0	1	14207	59	3	5		5	SGCZ	8	13948087	Silent	SNP	A	TCGA-24-1436-01A-01W-0549-09	10984027	13948087	132415935	19	12915											
CPA6	57094	genome.wustl.edu	37	8	68340286	68340286	+	Silent	SNP	C	C	T			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr8:68340286C>T	ENST00000297770.4	-	10	1337	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	374						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T374T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ACTTACACAACGTTGTGGAGG	0.433																																																1	Substitution - coding silent(1)	ovary(1)	8											113	105	108					8																	68340286		2203	4300	6503	68502840	SO:0001819	synonymous_variant	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.1122G>A	8.37:g.68340286C>T			68502840	Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	CCDS6200.1																																																																																				0.433	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		T	68340286	C	T	68340286	2	4	228	1	0	0	0	0	0	0	0	1	3794	523	19	1		1	CPA6	8	68340286	Silent	SNP	C	TCGA-24-1436-01A-01W-0549-09	54392199	68340286	78023736	20	12916											
ASAP1	50807	genome.wustl.edu	37	8	131124344	131124344	+	Silent	SNP	C	C	G	rs116410358	byFrequency	TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr8:131124344C>G	ENST00000518721.1	-	24	2624	c.2397G>C	c.(2395-2397)ggG>ggC	p.G799G	ASAP1_ENST00000357668.1_Silent_p.G799G	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	799	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.G799G(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCATACCTTTCCCGGCGTTCC	0.547																																																1	Substitution - coding silent(1)	ovary(1)	8											124	122	123					8																	131124344		2203	4300	6503	131193526	SO:0001819	synonymous_variant	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2397G>C	8.37:g.131124344C>G			131193526	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326433	0.24080	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	6.03	2.06	0.26882	.	.	.	.	.	T	0.66287	0.2774	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62558	-0.6829	4	.	.	.	.	12.6892	0.56964	0.0:0.3019:0.626:0.0721	.	.	.	.	Q	620;213	.	.	E	-	1	0	ASAP1	131193526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.078000	0.30754	0.369000	0.24510	0.655000	0.94253	GAA		0.547	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		G	131124344	C	G	131124344	2	3	228	1	0	0	0	0	0	0	0	1	1010	842	30	3		3	ASAP1	8	131124344	Silent	SNP	C	TCGA-24-1436-01A-01W-0549-09	62784058	131124344	15239678	21	12917											
OR13D1	286365	genome.wustl.edu	37	9	107457623	107457623	+	Silent	SNP	G	G	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr9:107457623G>A	ENST00000318763.5	+	1	964	c.921G>A	c.(919-921)ggG>ggA	p.G307G		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G307G(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						AGATTATTGGGCTGTCTTATG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	9											119	120	120					9																	107457623		2203	4300	6503	106497444	SO:0001819	synonymous_variant	286365				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.921G>A	9.37:g.107457623G>A			106497444	B9EIS1|Q6IFL1	Silent	SNP	ENST00000318763.5	37	CCDS35094.1																																																																																				0.418	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			A	107457623	G	A	107457623	2	1	228	1	0	0	0	0	0	0	0	1	10940	1190	42	2		2	OR13D1	9	107457623	Silent	SNP	G	TCGA-24-1436-01A-01W-0549-09		107457623	33755808	22	12918											
SVIL	6840	genome.wustl.edu	37	10	29773706	29773706	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr10:29773706T>A	ENST00000355867.4	-	27	5586	c.4834A>T	c.(4834-4836)Aca>Tca	p.T1612S	SVIL_ENST00000535393.1_Missense_Mutation_p.T526S|SVIL_ENST00000375398.2_Missense_Mutation_p.T1612S|SVIL_ENST00000538146.1_Missense_Mutation_p.T404S|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.T1186S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1612	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.T1612S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGTGCTAATGTGACTTCTTTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	10											150	132	138					10																	29773706		2203	4300	6503	29813712	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4834A>T	10.37:g.29773706T>A	ENSP00000348128:p.Thr1612Ser		29813712	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.873994	0.72180	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	L	0.33245	0.995	0.58432	D	0.999993	B;B;B;B	0.31548	0.328;0.067;0.033;0.04	B;B;B;B	0.32928	0.155;0.084;0.078;0.035	T	0.13388	-1.0511	10	0.33940	T	0.23	-16.2657	13.4302	0.61051	0.0:0.0:0.0:1.0	.	526;404;1186;1612	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	S	1186;1612;1612;526;566;404	ENSP00000364549:T1186S;ENSP00000364547:T1612S;ENSP00000348128:T1612S;ENSP00000445472:T526S;ENSP00000440343:T404S	ENSP00000348128:T1612S	T	-	1	0	SVIL	29813712	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	7.774000	0.85478	1.817000	0.53016	0.459000	0.35465	ACA		0.408	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			A	29773706	T	A	29773706	3	1	228	1	0	0	0	0	1	0	0	0	15421	1696	59	5	1858	5	SVIL	10	29773706	Missense_Mutation	SNP	T	TCGA-24-1436-01A-01W-0549-09		29773706	105761041	23	12919											
DUPD1	338599	genome.wustl.edu	37	10	76818085	76818085	+	Missense_Mutation	SNP	T	T	C	rs146031273	byFrequency	TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr10:76818085T>C	ENST00000338487.5	-	1	187	c.188A>G	c.(187-189)tAc>tGc	p.Y63C		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	63	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y63C(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATCGCCAATGTAGAGCTTGGG	0.647													T|||	2	0.000399361	0.0015	0	5008	,	,		17288	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	10						T	CYS/TYR	7,4399	12.9+/-30.5	0,7,2196	103	85	91		188	5.4	1	10	dbSNP_134	91	0,8600		0,0,4300	yes	missense	DUPD1	NM_001003892.1	194	0,7,6496	CC,CT,TT		0.0,0.1589,0.0538	probably-damaging	63/221	76818085	7,12999	2203	4300	6503	76488091	SO:0001583	missense	338599				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.188A>G	10.37:g.76818085T>C	ENSP00000340609:p.Tyr63Cys		76488091	B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170184	0.57584	0.001589	0.0	ENSG00000188716	ENST00000338487	D	0.91068	-2.78	5.37	5.37	0.77165	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.062767	0.64402	D	0.000003	D	0.96476	0.8850	H	0.95260	3.645	0.53688	D	0.999976	D	0.89917	1.0	D	0.75020	0.985	D	0.97376	0.9979	10	0.87932	D	0	-23.0761	12.8964	0.58101	0.0:0.0:0.0:1.0	.	63	Q68J44	DUPD1_HUMAN	C	63	ENSP00000340609:Y63C	ENSP00000340609:Y63C	Y	-	2	0	DUPD1	76488091	1.000000	0.71417	0.992000	0.48379	0.437000	0.31866	5.212000	0.65225	2.037000	0.60232	0.460000	0.39030	TAC		0.647	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		C	76818085	T	C	76818085	3	2	228	1	0	0	0	0	1	0	0	0	4804	1638	57	4	486	4	DUPD1	10	76818085	Missense_Mutation	SNP	T	TCGA-24-1436-01A-01W-0549-09	47044379	76818085	58716662	24	12920											
KRTAP5-3	387266	genome.wustl.edu	37	11	1629081	1629081	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr11:1629081C>A	ENST00000399685.1	-	1	612	c.535G>T	c.(535-537)Ggc>Tgc	p.G179C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	179	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G179C(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		gacccacagcctgaggagcag	0.627																																																1	Substitution - Missense(1)	ovary(1)	11											117	126	123					11																	1629081		2193	4284	6477	1585657	SO:0001583	missense	387266			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.535G>T	11.37:g.1629081C>A	ENSP00000382592:p.Gly179Cys		1585657	Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.856	-0.237294	0.05944	.	.	ENSG00000196224	ENST00000399685	T	0.00892	5.57	2.0	-4.0	0.04057	.	.	.	.	.	T	0.00815	0.0027	L	0.38838	1.175	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.45454	-0.9260	9	0.45353	T	0.12	.	3.7154	0.08435	0.4047:0.4303:0.0:0.165	.	179	Q6L8H2	KRA53_HUMAN	C	179	ENSP00000382592:G179C	ENSP00000382592:G179C	G	-	1	0	KRTAP5-3	1585657	0.000000	0.05858	0.003000	0.11579	0.441000	0.31987	-0.018000	0.12568	-0.152000	0.11156	0.280000	0.19369	GGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			A	1629081	C	A	1629081	3	1	228	1	0	0	0	0	1	0	0	0	8562	681	24	3	185	3	KRTAP5-3	11	1629081	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09		1629081	133377435	25	12921											
SPRYD5	84767	genome.wustl.edu	37	11	55653305	55653305	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr11:55653305A>T	ENST00000449290.2	+	2	493	c.401A>T	c.(400-402)gAg>gTg	p.E134V	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	134						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E134V(1)									TGGGCTGCTGAGGAACGCCGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											11	11	11					11																	55653305		692	1590	2282	55409881	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.401A>T	11.37:g.55653305A>T	ENSP00000395086:p.Glu134Val		55409881	A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	12.54	1.969783	0.34754	.	.	ENSG00000124900	ENST00000449290	T	0.59083	0.29	0.803	0.803	0.18691	.	.	.	.	.	T	0.73513	0.3596	M	0.91818	3.245	0.53688	D	0.999974	D	0.76494	0.999	D	0.71184	0.972	T	0.71144	-0.4678	9	0.72032	D	0.01	.	2.8746	0.05627	0.6803:0.0:0.3197:0.0	.	134	Q9BSJ1	SPRY5_HUMAN	V	134	ENSP00000395086:E134V	ENSP00000395086:E134V	E	+	2	0	SPRYD5	55409881	0.078000	0.21339	0.066000	0.19879	0.183000	0.23260	2.277000	0.43417	0.624000	0.30286	0.128000	0.15822	GAG		0.473	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		T	55653305	A	T	55653305	3	4	228	1	0	0	0	0	1	0	0	0	15113	304	11	5	403	5	SPRYD5	11	55653305	Missense_Mutation	SNP	A	TCGA-24-1436-01A-01W-0549-09	54024224	55653305	79353211	26	12922											
ASAM	79827	genome.wustl.edu	37	11	122953914	122953914	+	Splice_Site	SNP	G	G	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr11:122953914G>A	ENST00000448775.2	-	5	898	c.558C>T	c.(556-558)gaC>gaT	p.D186D	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	186	Ig-like C2-type 2.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.D186D(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						GGTGGTTGTAGTCTGCACAAG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	11											130	119	123					11																	122953914		2202	4299	6501	122459124	SO:0001630	splice_region_variant	79827			BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24039	protein-coding gene	gene with protein product	"adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule"	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.557-1C>T	11.37:g.122953914G>A			122459124		Silent	SNP	ENST00000448775.2	37	CCDS8441.1																																																																																				0.438	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769	Silent	A	122953914	G	A	122953914	5	1	228	1	0	0	0	0	0	0	1	0	1009	1043	36	2	575	2	ASAM	11	122953914	Splice_Site	SNP	G	TCGA-24-1436-01A-01W-0549-09	67300609	122953914	12052602	27	12923											
TAS2R50	259296	genome.wustl.edu	37	12	11139452	11139452	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr12:11139452G>C	ENST00000506868.1	-	1	59	c.8C>G	c.(7-9)aCt>aGt	p.T3S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	3					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.T3S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GTATAGAAAAGTTATCATATC	0.308																																																1	Substitution - Missense(1)	ovary(1)	12											23	28	26					12																	11139452		2147	4249	6396	11030719	SO:0001583	missense	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.8C>G	12.37:g.11139452G>C	ENSP00000424040:p.Thr3Ser		11030719	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.708338	0.00096	.	.	ENSG00000212126	ENST00000506868	T	0.00655	5.95	2.19	-4.39	0.03611	.	2.100360	0.03225	N	0.178163	T	0.00524	0.0017	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.17098	0.017	T	0.46871	-0.9160	10	0.05959	T	0.93	.	6.5454	0.22402	0.0:0.1735:0.4826:0.344	.	3	P59544	T2R50_HUMAN	S	3	ENSP00000424040:T3S	ENSP00000424040:T3S	T	-	2	0	TAS2R50	11030719	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.690000	0.00831	-2.020000	0.00940	0.313000	0.20887	ACT		0.308	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		C	11139452	G	C	11139452	3	2	228	1	0	0	0	0	1	0	0	0	15584	1029	36	3	895	3	TAS2R50	12	11139452	Missense_Mutation	SNP	G	TCGA-24-1436-01A-01W-0549-09		11139452	122712443	28	12924											
OS9	10956	genome.wustl.edu	37	12	58113916	58113916	+	Silent	SNP	C	C	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr12:58113916C>A	ENST00000315970.7	+	13	1676	c.1635C>A	c.(1633-1635)gtC>gtA	p.V545V	OS9_ENST00000439210.2_Intron|OS9_ENST00000389142.5_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000551035.1_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000389146.6_Silent_p.V530V	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	545					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.V545V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGTCCGGGTCACCAAGCTCC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	12											85	85	85					12																	58113916		2203	4300	6503	56400183	SO:0001819	synonymous_variant	10956			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1635C>A	12.37:g.58113916C>A			56400183	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	ENST00000315970.7	37	CCDS31843.1																																																																																				0.582	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		A	58113916	C	A	58113916	2	1	228	1	0	0	0	0	0	0	0	1	11272	813	29	3		3	OS9	12	58113916	Silent	SNP	C	TCGA-24-1436-01A-01W-0549-09	46974464	58113916	75737979	29	12925											
MLXIP	22877	genome.wustl.edu	37	12	122614147	122614147	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr12:122614147A>G	ENST00000319080.7	+	5	841	c.709A>G	c.(709-711)Aag>Gag	p.K237E	MLXIP_ENST00000538698.1_5'Flank					MLX interacting protein									p.K237E(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ACAGCAGCACAAGGATGAGGA	0.607																																					Esophageal Squamous(105;787 1493 16200 18566 52466)											1	Substitution - Missense(1)	ovary(1)	12											42	45	44					12																	122614147		2014	4162	6176	121180101	SO:0001583	missense	22877			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.709A>G	12.37:g.122614147A>G	ENSP00000312834:p.Lys237Glu		121180101		Missense_Mutation	SNP	ENST00000319080.7	37		.	.	.	.	.	.	.	.	.	.	A	26.1	4.701801	0.88924	.	.	ENSG00000175727	ENST00000319080	T	0.15256	2.44	5.0	5.0	0.66597	.	0.253842	0.38058	N	0.001832	T	0.13586	0.0329	.	.	.	0.80722	D	1	P	0.37061	0.58	B	0.31495	0.131	T	0.06734	-1.0810	9	0.32370	T	0.25	-24.2339	14.3721	0.66846	1.0:0.0:0.0:0.0	.	237	Q9HAP2	MLXIP_HUMAN	E	237	ENSP00000312834:K237E	ENSP00000312834:K237E	K	+	1	0	MLXIP	121180101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.659000	0.83766	1.881000	0.54492	0.459000	0.35465	AAG		0.607	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		G	122614147	A	G	122614147	3	3	228	1	0	0	0	0	1	0	0	0	9636	131	5	4	727	4	MLXIP	12	122614147	Missense_Mutation	SNP	A	TCGA-24-1436-01A-01W-0549-09	64500231	122614147	11237748	30	12926											
SPRY2	10253	genome.wustl.edu	37	13	80911657	80911657	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr13:80911657C>T	ENST00000377102.1	-	2	1161	c.184G>A	c.(184-186)Gtc>Atc	p.V62I	SPRY2_ENST00000540649.1_Missense_Mutation_p.V62I|SPRY2_ENST00000377104.3_Missense_Mutation_p.V62I			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	62					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)	p.V62I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GGTCTTGGGACGACAGTAGGC	0.602																																																1	Substitution - Missense(1)	ovary(1)	13											96	95	95					13																	80911657		2203	4300	6503	79809658	SO:0001583	missense	10253			AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.184G>A	13.37:g.80911657C>T	ENSP00000366306:p.Val62Ile		79809658	B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605563	0.28623	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.56275	0.47;0.47;0.47	5.48	4.63	0.57726	.	0.259797	0.36303	N	0.002662	T	0.42040	0.1185	L	0.29908	0.895	0.28439	N	0.916893	B	0.15141	0.012	B	0.08055	0.003	T	0.22765	-1.0207	10	0.27785	T	0.31	.	16.2993	0.82801	0.0:0.8675:0.1325:0.0	.	62	O43597	SPY2_HUMAN	I	62	ENSP00000366308:V62I;ENSP00000366306:V62I;ENSP00000439027:V62I	ENSP00000366306:V62I	V	-	1	0	SPRY2	79809658	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	1.462000	0.35266	1.302000	0.44855	0.655000	0.94253	GTC		0.602	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			T	80911657	C	T	80911657	3	4	228	1	0	0	0	0	1	0	0	0	15108	536	19	1	767	1	SPRY2	13	80911657	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09		80911657	34258221	31	12927											
RAGE	5891	genome.wustl.edu	37	14	102698968	102698968	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr14:102698968T>G	ENST00000361847.2	-	9	1001	c.770A>C	c.(769-771)cAa>cCa	p.Q257P	MOK_ENST00000561150.1_5'UTR|MOK_ENST00000522867.1_5'UTR|MOK_ENST00000517966.1_5'UTR|MOK_ENST00000193029.6_Missense_Mutation_p.Q23P|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.Q256P|MOK_ENST00000524214.1_Missense_Mutation_p.Q227P|MOK_ENST00000523231.1_5'UTR|MOK_ENST00000520266.1_Intron|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000519058.1_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q257P(1)									GGAGAGGCATTGTGGGGACAA	0.473																																																1	Substitution - Missense(1)	ovary(1)	14											162	162	162					14																	102698968		2203	4300	6503	101768721	SO:0001583	missense	5891			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.770A>C	14.37:g.102698968T>G	ENSP00000355304:p.Gln257Pro		101768721	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	.	12.34	1.908451	0.33721	.	.	ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214	T;T;T;T	0.65549	0.94;-0.16;-0.16;-0.16	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.419894	0.26553	N	0.023735	T	0.55226	0.1907	L	0.39397	1.21	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.48980	-0.8986	10	0.41790	T	0.15	.	15.5969	0.76590	0.0:0.0:0.0:1.0	.	227;257	E7ERR8;Q9UQ07	.;MOK_HUMAN	P	23;256;257;227	ENSP00000193029:Q23P;ENSP00000429469:Q256P;ENSP00000355304:Q257P;ENSP00000428942:Q227P	ENSP00000193029:Q23P	Q	-	2	0	RAGE	101768721	0.997000	0.39634	0.640000	0.29408	0.988000	0.76386	4.638000	0.61353	2.093000	0.63338	0.379000	0.24179	CAA		0.473	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			G	102698968	T	G	102698968	3	3	228	1	0	0	0	0	1	0	0	0	13009	1812	63	5	505	5	RAGE	14	102698968	Missense_Mutation	SNP	T	TCGA-24-1436-01A-01W-0549-09		102698968	4650572	32	12928											
BAG5	9529	genome.wustl.edu	37	14	104026926	104026926	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr14:104026926C>A	ENST00000445922.2	-	2	822	c.576G>T	c.(574-576)gaG>gaT	p.E192D	RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_Missense_Mutation_p.E192D|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.E233D|APOPT1_ENST00000247618.4_5'Flank|APOPT1_ENST00000409074.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	192	BAG 3. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.E192D(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CCTTGTTCACCTCACACATCA	0.522																																					NSCLC(171;1832 2055 18950 31566 41632)											1	Substitution - Missense(1)	ovary(1)	14											147	136	140					14																	104026926		2203	4300	6503	103096679	SO:0001583	missense	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.576G>T	14.37:g.104026926C>A	ENSP00000391713:p.Glu192Asp		103096679	O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014330	0.35511	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322;ENST00000557666	D;D;D;T	0.88586	-2.4;-2.4;-2.4;-1.47	5.76	-4.36	0.03645	BAG domain (3);	0.462359	0.24303	N	0.039706	T	0.70168	0.3193	N	0.12182	0.205	0.35561	D	0.804696	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.43294	-0.9400	10	0.35671	T	0.21	-22.686	3.126	0.06407	0.0846:0.2842:0.2657:0.3655	.	192;233	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	D	192;192;233;192	ENSP00000299204:E192D;ENSP00000391713:E192D;ENSP00000338814:E233D;ENSP00000450497:E192D	ENSP00000299204:E192D	E	-	3	2	BAG5	103096679	0.002000	0.14202	0.904000	0.35570	0.994000	0.84299	-1.544000	0.02192	-0.687000	0.05162	-0.150000	0.13652	GAG		0.522	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			A	104026926	C	A	104026926	3	1	228	1	0	0	0	0	1	0	0	0	1290	680	24	3	771	3	BAG5	14	104026926	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09	1327958	104026926	3322614	33	12929											
GLCE	26035	genome.wustl.edu	37	15	69560791	69560791	+	Silent	SNP	G	G	T			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr15:69560791G>T	ENST00000261858.2	+	5	1290	c.1062G>T	c.(1060-1062)ctG>ctT	p.L354L	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Silent_p.L290L	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	354					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.L354L(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CCAGGGACCTGGTCACTGACC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	15											56	57	56					15																	69560791		2200	4298	6498	67347845	SO:0001819	synonymous_variant	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1062G>T	15.37:g.69560791G>T			67347845	Q6GUQ2	Silent	SNP	ENST00000261858.2	37	CCDS32277.1																																																																																				0.423	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		T	69560791	G	T	69560791	2	4	228	1	0	0	0	0	0	0	0	1	6432	1335	47	3		3	GLCE	15	69560791	Silent	SNP	G	TCGA-24-1436-01A-01W-0549-09		69560791	32970601	34	12930											
THSD4	79875	genome.wustl.edu	37	15	72050325	72050325	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr15:72050325T>G	ENST00000355327.3	+	15	2634	c.2500T>G	c.(2500-2502)Tgt>Ggt	p.C834G	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.C834G|THSD4_ENST00000357769.4_Missense_Mutation_p.C474G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	834	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.C834G(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTGGAGGGCTGTGGGAACAA	0.657																																																1	Substitution - Missense(1)	ovary(1)	15											35	41	39					15																	72050325		2120	4232	6352	69837379	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2500T>G	15.37:g.72050325T>G	ENSP00000347484:p.Cys834Gly		69837379	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	T	18.22	3.575884	0.65878	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.72835	-0.69;-0.69;-0.69	5.18	5.18	0.71444	.	.	.	.	.	D	0.87947	0.6306	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	D	0.90289	0.4321	9	0.51188	T	0.08	.	13.0184	0.58771	0.0:0.0:0.0:1.0	.	474;834	B4DR13;Q6ZMP0	.;THSD4_HUMAN	G	834;834;474	ENSP00000347484:C834G;ENSP00000261862:C834G;ENSP00000350413:C474G	ENSP00000261862:C834G	C	+	1	0	THSD4	69837379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.749000	0.85096	2.177000	0.69029	0.533000	0.62120	TGT		0.657	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		G	72050325	T	G	72050325	3	3	228	1	0	0	0	0	1	0	0	0	15878	1580	55	5	2554	5	THSD4	15	72050325	Missense_Mutation	SNP	T	TCGA-24-1436-01A-01W-0549-09	2489534	72050325	30481067	35	12931											
PRDM7	11105	genome.wustl.edu	37	16	90128464	90128464	+	Silent	SNP	C	C	T			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr16:90128464C>T	ENST00000449207.2	-	7	766	c.747G>A	c.(745-747)ggG>ggA	p.G249G	PRDM7_ENST00000407825.1_Silent_p.G43G|PRDM7_ENST00000325921.6_Silent_p.G43G	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	249	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)	p.G43G(1)		lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGCCTGATGGCCCAATTCTCA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	16											72	66	68					16																	90128464		2198	4300	6498	88655965	SO:0001819	synonymous_variant	11105			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.747G>A	16.37:g.90128464C>T			88655965	A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	ENST00000449207.2	37	CCDS45557.1																																																																																				0.587	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			T	90128464	C	T	90128464	2	4	228	1	0	0	0	0	0	0	0	1	12464	726	26	2		2	PRDM7	16	90128464	Silent	SNP	C	TCGA-24-1436-01A-01W-0549-09		90128464	226289	36	12932											
TP53	7157	genome.wustl.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	G	rs11575997		TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C					Verified	Unknown	Somatic	Phase_III	PCR	Sanger_PCR_WGA		dbGAP	ABI 3730xl	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr17:7576852C>G	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(24)|p.0?(8)|p.I332fs*49(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)	AGACTTAGTACCTGAAGGGTG	0.458		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"	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	17	GRCh37	CD002536	TP53	D	rs11575997						115	108	111					17																	7576852		2203	4300	6503	7517577	SO:0001630	splice_region_variant	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.993+1G>C	17.37:g.7576852C>G			7517577	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238216	0.39598	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	G	7576852	C	G	7576852	5	3	228	1	0	0	0	0	0	0	1	0	16381	521	18	3	288	3	TP53	17	7576852	Splice_Site	SNP	C	TCGA-24-1436-01A-01W-0549-09		7576852	73618358	37	12933											
PIK3C3	5289	genome.wustl.edu	37	18	39600610	39600610	+	Silent	SNP	C	C	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr18:39600610C>A	ENST00000262039.4	+	13	1511	c.1425C>A	c.(1423-1425)ctC>ctA	p.L475L	PIK3C3_ENST00000398870.3_Silent_p.L412L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	475	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.L475L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGCAAGATCTCTGTACCTTCT	0.289										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)											1	Substitution - coding silent(1)	ovary(1)	18											44	45	45					18																	39600610		2203	4286	6489	37854608	SO:0001819	synonymous_variant	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1425C>A	18.37:g.39600610C>A			37854608	Q15134	Silent	SNP	ENST00000262039.4	37	CCDS11920.1																																																																																				0.289	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		A	39600610	C	A	39600610	2	1	228	1	0	0	0	0	0	0	0	1	11912	900	32	3		3	PIK3C3	18	39600610	Silent	SNP	C	TCGA-24-1436-01A-01W-0549-09		39600610	38476638	38	12934											
ANO8	57719	genome.wustl.edu	37	19	17435902	17435902	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr19:17435902C>G	ENST00000159087.4	-	17	3113	c.2955G>C	c.(2953-2955)caG>caC	p.Q985H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	985					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.Q985H(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGAATTTGCCCTGCAGTGGGA	0.667																																																1	Substitution - Missense(1)	ovary(1)	19											84	89	87					19																	17435902		2203	4300	6503	17296902	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2955G>C	19.37:g.17435902C>G	ENSP00000159087:p.Gln985His		17296902	A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.707965	0.48412	.	.	ENSG00000074855	ENST00000159087	T	0.75050	-0.9	4.19	3.13	0.36017	.	0.064498	0.64402	D	0.000007	T	0.78419	0.4280	L	0.54323	1.7	0.34552	D	0.711429	D	0.65815	0.995	D	0.77557	0.99	T	0.78937	-0.2007	10	0.24483	T	0.36	.	7.1496	0.25604	0.0:0.7821:0.0:0.2178	.	985	Q9HCE9	ANO8_HUMAN	H	985	ENSP00000159087:Q985H	ENSP00000159087:Q985H	Q	-	3	2	ANO8	17296902	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.611000	0.46334	1.877000	0.54381	0.478000	0.44815	CAG		0.667	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		G	17435902	C	G	17435902	3	3	228	1	0	0	0	0	1	0	0	0	703	680	24	3	751	3	ANO8	19	17435902	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09		17435902	41693081	39	12935											
ZBTB32	27033	genome.wustl.edu	37	19	36207502	36207502	+	Missense_Mutation	SNP	C	C	A	rs267605434		TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr19:36207502C>A	ENST00000392197.2	+	7	1630	c.1312C>A	c.(1312-1314)Ccc>Acc	p.P438T	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.P438T|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000341701.1_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	438					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P438T(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCGGCTGTCCCAGCCTGGC	0.692											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	19											55	53	53					19																	36207502		2203	4298	6501	40899342	SO:0001583	missense	27033			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.1312C>A	19.37:g.36207502C>A	ENSP00000376035:p.Pro438Thr	861	40899342	Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955454	0.73902	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.17054	2.3;2.3	4.75	1.49	0.22878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.302644	0.24238	N	0.040290	T	0.10551	0.0258	N	0.04959	-0.14	0.30200	N	0.798714	P	0.46859	0.885	P	0.51324	0.666	T	0.17198	-1.0377	10	0.14252	T	0.57	-5.6783	8.1848	0.31333	0.0:0.7411:0.0:0.2589	.	438	Q9Y2Y4	ZBT32_HUMAN	T	438	ENSP00000262630:P438T;ENSP00000376035:P438T	ENSP00000262630:P438T	P	+	1	0	ZBTB32	40899342	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	0.733000	0.26087	0.231000	0.21079	0.462000	0.41574	CCC		0.692	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		A	36207502	C	A	36207502	3	1	228	1	0	0	0	0	1	0	0	0	17535	855	30	3	1330	3	ZBTB32	19	36207502	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09	18771600	36207502	22921481	40	12936											
SIGLEC12	89858	genome.wustl.edu	37	19	52001388	52001388	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr19:52001388A>G	ENST00000291707.3	-	5	1344	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.V312A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	430	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V430A(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCTCCAGCACCCCAAGGTT	0.617																																																1	Substitution - Missense(1)	ovary(1)	19											51	49	50					19																	52001388		2203	4300	6503	56693200	SO:0001583	missense	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1289T>C	19.37:g.52001388A>G	ENSP00000291707:p.Val430Ala		56693200	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	12.02	1.811706	0.32053	.	.	ENSG00000254521	ENST00000291707	T	0.15952	2.38	1.39	0.203	0.15195	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.243882	0.20820	U	0.085088	T	0.33118	0.0852	M	0.82056	2.57	0.09310	N	1	D;P	0.60160	0.987;0.917	D;P	0.67231	0.95;0.81	T	0.10753	-1.0616	10	0.66056	D	0.02	.	3.3268	0.07070	0.6319:0.0:0.0:0.3681	.	430;312	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	A	430	ENSP00000291707:V430A	ENSP00000291707:V430A	V	-	2	0	SIGLEC12	56693200	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.109000	0.10840	0.003000	0.14656	0.324000	0.21423	GTG		0.617	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		G	52001388	A	G	52001388	3	3	228	1	0	0	0	0	1	0	0	0	14311	159	6	4	514	4	SIGLEC12	19	52001388	Missense_Mutation	SNP	A	TCGA-24-1436-01A-01W-0549-09	15793886	52001388	7127595	41	12937											
ZNF615	284370	genome.wustl.edu	37	19	52497554	52497554	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr19:52497554G>A	ENST00000602063.1	-	6	1124	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	ZNF615_ENST00000391795.3_Missense_Mutation_p.H264Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.H270Y|ZNF615_ENST00000376716.5_Missense_Mutation_p.H259Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.H270Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	259					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.H259Y(1)|p.H270Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATTCATAATGTTTCAGTTCT	0.398																																																2	Substitution - Missense(2)	ovary(2)	19											160	148	152					19																	52497554		2203	4300	6503	57189366	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.775C>T	19.37:g.52497554G>A	ENSP00000473089:p.His259Tyr		57189366	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	5.602	0.295863	0.10622	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07444	3.19;3.19	3.32	1.14	0.20703	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.16368	0.405	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.36768	-0.9734	9	0.62326	D	0.03	.	8.0487	0.30564	0.2119:0.0:0.7881:0.0	.	264;266;270;259	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Y	259;269;264;269	ENSP00000365906:H259Y;ENSP00000375672:H264Y	ENSP00000347019:H269Y	H	-	1	0	ZNF615	57189366	0.000000	0.05858	0.001000	0.08648	0.559000	0.35586	0.654000	0.24918	0.241000	0.21283	0.555000	0.69702	CAT		0.398	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		A	52497554	G	A	52497554	3	1	228	1	0	0	0	0	1	0	0	0	18040	1377	48	2	1424	2	ZNF615	19	52497554	Missense_Mutation	SNP	G	TCGA-24-1436-01A-01W-0549-09	496166	52497554	6631429	42	12938											
LILRB4	11006	genome.wustl.edu	37	19	55179203	55179203	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr19:55179203A>T	ENST00000391736.1	+	13	1474	c.1159A>T	c.(1159-1161)Aag>Tag	p.K387*	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.K387*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.K386*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.K388*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	387					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.K387*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCTGGACACAAAGGACAGACA	0.592																																																1	Substitution - Nonsense(1)	ovary(1)	19											74	71	72					19																	55179203		2198	4298	6496	59871015	SO:0001587	stop_gained	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1159A>T	19.37:g.55179203A>T	ENSP00000375616:p.Lys387*		59871015	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Nonsense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.388554	0.25118	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391733;ENST00000434286	.	.	.	2.18	-3.18	0.05186	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999973	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2792	0.10824	0.3082:0.2213:0.4705:0.0	.	.	.	.	X	387;387;386;388;386	.	ENSP00000270452:K387X	K	+	1	0	LILRB4	59871015	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.414000	0.07114	-0.801000	0.04427	-0.466000	0.05196	AAG		0.592	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			T	55179203	A	T	55179203	4	4	228	1	0	0	0	0	0	1	0	0	8793	15	1	5	1201	5	LILRB4	19	55179203	Nonsense_Mutation	SNP	A	TCGA-24-1436-01A-01W-0549-09	2681649	55179203	3949780	43	12939											
KIAA1755	85449	genome.wustl.edu	37	20	36855561	36855561	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr20:36855561C>T	ENST00000279024.4	-	7	2318	c.2047G>A	c.(2047-2049)Gtc>Atc	p.V683I		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	683								p.V683I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCACCTGGACGTCAGGTAAT	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											37	36	37					20																	36855561		2203	4300	6503	36288975	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2047G>A	20.37:g.36855561C>T	ENSP00000279024:p.Val683Ile		36288975	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	0.090	-1.169350	0.01660	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.63580	-0.05;1.97	4.16	-8.31	0.01001	.	1.135940	0.06757	N	0.781048	T	0.21674	0.0522	N	0.00677	-1.265	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42515	-0.9447	10	0.02654	T	1	.	11.4064	0.49900	0.0:0.6579:0.1957:0.1464	.	683	Q5JYT7	K1755_HUMAN	I	683;230;21	ENSP00000279024:V683I;ENSP00000393503:V21I	ENSP00000279024:V683I	V	-	1	0	KIAA1755	36288975	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-1.394000	0.02518	-2.017000	0.00944	-0.956000	0.02647	GTC		0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36855561	C	T	36855561	3	4	228	1	0	0	0	0	1	0	0	0	8257	536	19	1	1587	1	KIAA1755	20	36855561	Missense_Mutation	SNP	C	TCGA-24-1436-01A-01W-0549-09		36855561	26169959	44	12940											
PATZ1	23598	genome.wustl.edu	37	22	31731753	31731753	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chr22:31731753G>A	ENST00000266269.5	-	3	2061	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478W|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000351933.4_Missense_Mutation_p.R478W	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	478					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R478W(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TATGCTGCCCGCAAGTACTTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	22											113	102	105					22																	31731753		2203	4300	6503	30061753	SO:0001583	missense	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1432C>T	22.37:g.31731753G>A	ENSP00000266269:p.Arg478Trp		30061753	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356868	0.82243	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	T;T;T	0.12039	4.65;2.72;2.72	5.33	3.21	0.36854	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.994	T	0.01753	-1.1281	10	0.59425	D	0.04	-17.0252	13.92	0.63926	0.0:0.0:0.6078:0.3921	.	478;478;478	Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;PATZ1_HUMAN;.	W	478	ENSP00000266269:R478W;ENSP00000384173:R478W;ENSP00000337520:R478W	ENSP00000266269:R478W	R	-	1	2	PATZ1	30061753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.254000	0.32897	0.611000	0.30052	0.563000	0.77884	CGG		0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		A	31731753	G	A	31731753	3	1	228	1	0	0	0	0	1	0	0	0	11476	1086	38	1	643	1	PATZ1	22	31731753	Missense_Mutation	SNP	G	TCGA-24-1436-01A-01W-0549-09		31731753	19572813	45	12941											
ZNF185	7739	genome.wustl.edu	37	X	152138985	152138985	+	Splice_Site	SNP	A	A	G			TCGA-24-1436-01A-01W-0549-09	TCGA-24-1436-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	adeff0f5-d2a3-41c5-a509-298f702266bb	e75949ca-4478-406a-a598-a45d1f0cbefc	g.chrX:152138985A>G	ENST00000370268.4	+	22	2008		c.e22-1		ZNF185_ENST00000449285.2_Splice_Site|ZNF185_ENST00000318504.7_Splice_Site|ZNF185_ENST00000454925.1_Splice_Site|ZNF185_ENST00000535861.1_Splice_Site|ZNF185_ENST00000318529.8_Splice_Site|ZNF185_ENST00000324823.6_Splice_Site|ZNF185_ENST00000539731.1_Splice_Site|ZNF185_ENST00000370270.2_Splice_Site			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCTTTTCAGTGTGGGATT	0.493																																																1	Unknown(1)	ovary(1)	X											112	105	108					X																	152138985		2015	4139	6154	151889641	SO:0001630	splice_region_variant	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1972-1A>G	X.37:g.152138985A>G			151889641	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Splice_Site	SNP	ENST00000370268.4	37	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693857	0.48202	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000426821;ENST00000454925	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9908	0.53173	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF185	151889641	1.000000	0.71417	0.988000	0.46212	0.554000	0.35429	5.764000	0.68826	1.805000	0.52779	0.486000	0.48141	.		0.493	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	Intron	G	152138985	A	G	152138985	5	3	228	1	0	0	0	0	0	0	1	0	17752	202	7	4	2300	4	ZNF185	23	152138985	Splice_Site	SNP	A	TCGA-24-1436-01A-01W-0549-09		152138985	3131575	46	12942											
CYP4A11	1579	genome.wustl.edu	37	1	47398661	47398661	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:47398661G>T	ENST00000310638.4	-	10	1312	c.1281C>A	c.(1279-1281)aaC>aaA	p.N427K	CYP4A11_ENST00000371905.1_Missense_Mutation_p.N427K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.N428K|CYP4A11_ENST00000462347.1_Missense_Mutation_p.N329K|CYP4A11_ENST00000496519.1_5'Flank	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	427					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.N427K(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	ATACCTCTGGGTTGGGCCACA	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											293	280	284					1																	47398661		2203	4300	6503	47171248	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1281C>A	1.37:g.47398661G>T	ENSP00000311095:p.Asn427Lys		47171248	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	14.16	2.452507	0.43531	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.70282	-0.47;-0.47;-0.47	5.35	2.48	0.30137	.	0.193659	0.53938	N	0.000049	T	0.62344	0.2420	L	0.39147	1.195	0.80722	D	1	B	0.23540	0.087	B	0.33690	0.168	T	0.57625	-0.7779	10	0.59425	D	0.04	.	8.2998	0.32008	0.383:0.0:0.617:0.0	.	427	Q02928	CP4AB_HUMAN	K	427;428;427	ENSP00000311095:N427K;ENSP00000360971:N428K;ENSP00000360972:N427K	ENSP00000311095:N427K	N	-	3	2	CYP4A11	47171248	0.983000	0.35010	0.998000	0.56505	0.970000	0.65996	0.082000	0.14847	0.347000	0.23924	0.650000	0.86243	AAC		0.527	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		T	47398661	G	T	47398661	3	4	229	1	0	0	0	0	1	0	0	0	4183	1252	44	3	290	3	CYP4A11	1	47398661	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09		47398661	201851960	1	12943											
AKNAD1	254268	genome.wustl.edu	37	1	109391611	109391613	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	AAG	AAG	AAG	-	AAG	AAG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:109391611_109391613delAAG	ENST00000370001.3	-	4	1371_1373	c.1103_1105delCTT	c.(1102-1107)tcttac>tac	p.S368del	AKNAD1_ENST00000369994.1_In_Frame_Del_p.S368del|AKNAD1_ENST00000357393.4_In_Frame_Del_p.S75del|AKNAD1_ENST00000369995.3_In_Frame_Del_p.S368del	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	368						cytoplasm (GO:0005737)		p.S368del(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGAAATATGTAAGAAGAACTTGA	0.365																																																1	Deletion - In frame(1)	ovary(1)	1																																								109193136	SO:0001651	inframe_deletion	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1103_1105delCTT	1.37:g.109391614_109391616delAAG	ENSP00000359018:p.Ser368del		109193134	B9EK62|Q5T1N0|Q8N990|Q8NCN9	In_Frame_Del	DEL	ENST00000370001.3	37	CCDS791.2																																																																																				0.365	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		-	109391613	AAG	-	109391611	7	5	229	1	0	1	0	1	0	0	0	0	464	362	13	0	1457	0	AKNAD1	1	109391611	In_Frame_Del	DEL	AAG	TCGA-24-1463-01A-01W-0549-09	61992950	109391611	139859010	2	12944											
PPIAL4G	644591	genome.wustl.edu	37	1	143767441	143767441	+	Silent	SNP	C	C	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:143767441C>T	ENST00000419275.1	-	1	440	c.408G>A	c.(406-408)gtG>gtA	p.V136V		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	136	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.V136V(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CCACAATATTCACACGTTCTT	0.468																																																1	Substitution - coding silent(1)	ovary(1)	1											132	109	116					1																	143767441		1270	3063	4333	142558964	SO:0001819	synonymous_variant	644591				CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.408G>A	1.37:g.143767441C>T			142558964	A1L431	Silent	SNP	ENST00000419275.1	37	CCDS41375.1																																																																																				0.468	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		T	143767441	C	T	143767441	2	4	229	1	0	0	0	0	0	0	0	1	12321	813	29	2		2	PPIAL4G	1	143767441	Silent	SNP	C	TCGA-24-1463-01A-01W-0549-09	34375830	143767441	105483180	3	12945											
ITGA10	8515	genome.wustl.edu	37	1	145535772	145535772	+	Missense_Mutation	SNP	G	G	C	rs201790812	byFrequency	TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:145535772G>C	ENST00000369304.3	+	16	2135	c.1960G>C	c.(1960-1962)Gtg>Ctg	p.V654L	ITGA10_ENST00000539363.1_Missense_Mutation_p.V511L|ITGA10_ENST00000538811.1_Missense_Mutation_p.V523L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	654					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.V654L(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATCACTGGAGGTGACCCCACA	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											121	114	116					1																	145535772		2203	4300	6503	144247129	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1960G>C	1.37:g.145535772G>C	ENSP00000358310:p.Val654Leu		144247129	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713105	0.48517	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.55413	0.52;0.52;0.52	5.12	3.23	0.37069	Integrin alpha-2 (1);	0.166320	0.41294	D	0.000905	T	0.20414	0.0491	N	0.19112	0.55	0.26339	N	0.977395	B;B;B;B	0.23891	0.037;0.002;0.093;0.026	B;B;B;B	0.32465	0.087;0.007;0.146;0.142	T	0.17806	-1.0357	10	0.72032	D	0.01	.	8.1464	0.31115	0.0833:0.0:0.759:0.1578	.	620;523;511;654	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	L	654;620;511;523	ENSP00000358310:V654L;ENSP00000439894:V511L;ENSP00000440011:V523L	ENSP00000358310:V654L	V	+	1	0	ITGA10	144247129	0.988000	0.35896	0.239000	0.24122	0.928000	0.56348	2.096000	0.41738	0.852000	0.35287	0.655000	0.94253	GTG		0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		C	145535772	G	C	145535772	3	2	229	1	0	0	0	0	1	0	0	0	7873	1261	44	3	2022	3	ITGA10	1	145535772	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	1768331	145535772	103714849	4	12946											
ASPM	259266	genome.wustl.edu	37	1	197072049	197072049	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:197072049C>T	ENST00000367409.4	-	18	6588	c.6332G>A	c.(6331-6333)aGa>aAa	p.R2111K	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2111	IQ 16. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R2111K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGAATATGTCTTCTAACTCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	1											111	117	115					1																	197072049		2203	4297	6500	195338672	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6332G>A	1.37:g.197072049C>T	ENSP00000356379:p.Arg2111Lys		195338672	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	11.51	1.659926	0.29515	.	.	ENSG00000066279	ENST00000367409	T	0.71461	-0.57	5.59	2.72	0.32119	.	0.134493	0.51477	N	0.000099	T	0.65533	0.2700	L	0.49256	1.55	0.09310	N	1	B	0.32526	0.374	B	0.40329	0.326	T	0.54715	-0.8252	10	0.31617	T	0.26	.	8.4244	0.32720	0.0:0.6248:0.0:0.3752	.	2111	Q8IZT6	ASPM_HUMAN	K	2111	ENSP00000356379:R2111K	ENSP00000356379:R2111K	R	-	2	0	ASPM	195338672	0.000000	0.05858	0.191000	0.23289	0.401000	0.30781	0.260000	0.18424	0.317000	0.23160	-0.153000	0.13522	AGA		0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		T	197072049	C	T	197072049	3	4	229	1	0	0	0	0	1	0	0	0	1056	913	32	2	4145	2	ASPM	1	197072049	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	51536277	197072049	52178572	5	12947											
CRB1	23418	genome.wustl.edu	37	1	197297783	197297783	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:197297783G>C	ENST00000367400.3	+	2	437	c.302G>C	c.(301-303)gGg>gCg	p.G101A	CRB1_ENST00000538660.1_Missense_Mutation_p.G101A|CRB1_ENST00000535699.1_Missense_Mutation_p.G32A|CRB1_ENST00000367399.2_Missense_Mutation_p.G101A	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	101	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G101A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTCCTCCTGGGTACAGTGGG	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											92	82	86					1																	197297783		2203	4300	6503	195564406	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.302G>C	1.37:g.197297783G>C	ENSP00000356370:p.Gly101Ala		195564406	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882507	0.33255	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79	5.43	5.43	0.79202	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99055	0.9676	M	0.84846	2.72	0.80722	D	1	D;D;B;D;D	0.89917	1.0;1.0;0.082;1.0;1.0	D;D;B;D;D	0.97110	0.999;1.0;0.049;0.999;0.999	D	0.99659	1.0993	9	0.66056	D	0.02	.	19.6052	0.95577	0.0:0.0:1.0:0.0	.	101;32;101;101;126	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	A	32;101;101;101	ENSP00000438786:G32A;ENSP00000438091:G101A;ENSP00000356370:G101A;ENSP00000356369:G101A	ENSP00000356369:G101A	G	+	2	0	CRB1	195564406	1.000000	0.71417	0.589000	0.28718	0.104000	0.19210	4.927000	0.63440	2.698000	0.92095	0.591000	0.81541	GGG		0.493	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		C	197297783	G	C	197297783	3	2	229	1	0	0	0	0	1	0	0	0	3848	1232	43	3	308	3	CRB1	1	197297783	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	225734	197297783	51952838	6	12948											
HHAT	55733	genome.wustl.edu	37	1	210591516	210591516	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:210591516G>A	ENST00000367010.1	+	7	930	c.703G>A	c.(703-705)Gac>Aac	p.D235N	HHAT_ENST00000413764.2_Missense_Mutation_p.D235N|HHAT_ENST00000391905.3_Missense_Mutation_p.D235N|HHAT_ENST00000308852.6_Missense_Mutation_p.D190N|HHAT_ENST00000545781.1_Missense_Mutation_p.D172N|HHAT_ENST00000537898.1_Missense_Mutation_p.D170N|HHAT_ENST00000261458.3_Missense_Mutation_p.D235N|HHAT_ENST00000541565.1_Missense_Mutation_p.D98N|HHAT_ENST00000545154.1_Missense_Mutation_p.D236N	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	235					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)	p.D235N(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCAGGAGCATGACTCCCTGAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											141	133	136					1																	210591516		2203	4300	6503	208658139	SO:0001583	missense	55733			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.703G>A	1.37:g.210591516G>A	ENSP00000355977:p.Asp235Asn		208658139	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443893	0.25987	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T;T	0.73152	-0.69;-0.72;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.1	-10.2	0.00374	.	1.176120	0.05735	N	0.600299	T	0.28101	0.0693	N	0.01048	-1.04	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.003;0.001;0.001;0.001;0.004	T	0.19418	-1.0306	10	0.13470	T	0.59	-0.6034	2.3551	0.04293	0.3453:0.1271:0.3751:0.1525	.	190;236;98;170;235	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	N	235;98;236;170;235;172;235;190;235;107	ENSP00000416845:D235N;ENSP00000444995:D98N;ENSP00000438468:D236N;ENSP00000442625:D170N;ENSP00000375773:D235N;ENSP00000439229:D172N;ENSP00000261458:D235N;ENSP00000308628:D190N;ENSP00000355977:D235N;ENSP00000413399:D107N	ENSP00000261458:D235N	D	+	1	0	HHAT	208658139	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.443000	0.02405	-2.501000	0.00510	0.455000	0.32223	GAC		0.522	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		A	210591516	G	A	210591516	3	1	229	1	0	0	0	0	1	0	0	0	7089	1290	45	2	823	2	HHAT	1	210591516	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	13293733	210591516	38659105	7	12949											
KCNH1	3756	genome.wustl.edu	37	1	210856770	210856770	+	Silent	SNP	G	G	A	rs143091808	byFrequency	TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:210856770G>A	ENST00000271751.4	-	11	2850	c.2823C>T	c.(2821-2823)aaC>aaT	p.N941N	KCNH1_ENST00000367007.4_Silent_p.N914N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	941	CAD (involved in subunit assembly). {ECO:0000250}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.N941N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCATTTTGGCGTTTAAGGCCT	0.488													G|||	4	0.000798722	0.003	0	5008	,	,		21003	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1						G	,	6,4400	12.9+/-30.5	0,6,2197	95	80	85		2742,2823	-3.7	0	1	dbSNP_134	85	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous	KCNH1	NM_002238.3,NM_172362.2	,	0,16,6487	AA,AG,GG		0.1163,0.1362,0.123	,	914/963,941/990	210856770	16,12990	2203	4300	6503	208923393	SO:0001819	synonymous_variant	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2823C>T	1.37:g.210856770G>A			208923393	B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																				0.488	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		A	210856770	G	A	210856770	2	1	229	1	0	0	0	0	0	0	0	1	8031	1136	40	1		1	KCNH1	1	210856770	Silent	SNP	G	TCGA-24-1463-01A-01W-0549-09	265254	210856770	38393851	8	12950											
KIAA1383	54627	genome.wustl.edu	37	1	232942303	232942303	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:232942303C>G	ENST00000418460.1	+	1	1661	c.1534C>G	c.(1534-1536)Cca>Gca	p.P512A		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	370					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.P512A(1)									TGTAAATCCTCCACATATTCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											71	68	69					1																	232942303		1911	4135	6046	231008926	SO:0001583	missense	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1534C>G	1.37:g.232942303C>G	ENSP00000403208:p.Pro512Ala		231008926	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	7.059	0.566070	0.13560	.	.	ENSG00000212916	ENST00000418460	.	.	.	4.69	1.83	0.25207	.	1.515630	0.04332	N	0.352523	T	0.26231	0.0640	L	0.40543	1.245	0.09310	N	0.999999	P	0.41450	0.75	B	0.36766	0.232	T	0.15780	-1.0425	9	0.15499	T	0.54	-7.2159	4.7313	0.12966	0.0:0.6123:0.1937:0.1939	.	370	Q9P2G4	K1383_HUMAN	A	512	.	ENSP00000403208:P512A	P	+	1	0	KIAA1383	231008926	0.000000	0.05858	0.008000	0.14137	0.183000	0.23260	0.182000	0.16900	0.457000	0.26962	0.655000	0.94253	CCA		0.383	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		G	232942303	C	G	232942303	3	3	229	1	0	0	0	0	1	0	0	0	8228	855	30	3	1536	3	KIAA1383	1	232942303	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	22085533	232942303	16308318	9	12951											
RYR2	6262	genome.wustl.edu	37	1	237993891	237993891	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr1:237993891A>T	ENST00000366574.2	+	103	15034	c.14717A>T	c.(14716-14718)gAa>gTa	p.E4906V	RYR2_ENST00000542537.1_Missense_Mutation_p.E4890V|RYR2_ENST00000360064.6_Missense_Mutation_p.E4912V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4906					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E4904V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATGGCTTTGAAACCCACACT	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											199	187	191					1																	237993891		1971	4170	6141	236060514	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14717A>T	1.37:g.237993891A>T	ENSP00000355533:p.Glu4906Val		236060514	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887645	0.91814	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97256	-4.31;-4.28;-4.31	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000005	D	0.98692	0.9561	M	0.90870	3.155	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.99780	1.1027	10	0.87932	D	0	-16.5253	15.3997	0.74830	1.0:0.0:0.0:0.0	.	4906	Q92736	RYR2_HUMAN	V	4906;4912;4890	ENSP00000355533:E4906V;ENSP00000353174:E4912V;ENSP00000443798:E4890V	ENSP00000353174:E4912V	E	+	2	0	RYR2	236060514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.284000	0.95882	2.030000	0.59900	0.459000	0.35465	GAA		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237993891	A	T	237993891	3	4	229	1	0	0	0	0	1	0	0	0	13772	246	9	5	15127	5	RYR2	1	237993891	Missense_Mutation	SNP	A	TCGA-24-1463-01A-01W-0549-09	5051588	237993891	11256730	10	12952											
WDR43	23160	genome.wustl.edu	37	2	29164333	29164333	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr2:29164333G>C	ENST00000407426.3	+	15	1683	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	543						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D586H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CTAGTTGCCTGACCTGGTACC	0.413																																																1	Substitution - Missense(1)	ovary(1)	2											73	70	71					2																	29164333		1934	4128	6062	29017837	SO:0001583	missense	23160			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1627G>C	2.37:g.29164333G>C	ENSP00000384302:p.Asp543His		29017837	Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424056	0.83667	.	.	ENSG00000163811	ENST00000407426	T	0.67523	-0.27	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86186	0.1609	10	0.72032	D	0.01	-20.4027	19.7843	0.96430	0.0:0.0:1.0:0.0	.	543	Q15061	WDR43_HUMAN	H	543	ENSP00000384302:D543H	ENSP00000384302:D543H	D	+	1	0	WDR43	29017837	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.481000	0.81124	2.753000	0.94483	0.555000	0.69702	GAC		0.413	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		C	29164333	G	C	29164333	3	2	229	1	0	0	0	0	1	0	0	0	17295	1290	45	3	1685	3	WDR43	2	29164333	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09		29164333	214035040	11	12953											
EIF2AK2	5610	genome.wustl.edu	37	2	37374945	37374945	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr2:37374945G>C	ENST00000233057.4	-	3	327	c.5C>G	c.(4-6)gCt>gGt	p.A2G	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.A2G|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.A2G	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	2					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)	p.A2G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGATCACCAGCCATTTCTTC	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											97	100	99					2																	37374945		2203	4300	6503	37228449	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.5C>G	2.37:g.37374945G>C	ENSP00000233057:p.Ala2Gly		37228449	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154921	0.38021	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	T;T;T	0.80033	-1.12;-1.12;-1.33	5.32	3.46	0.39613	.	0.377447	0.22605	N	0.057911	D	0.87573	0.6211	M	0.72894	2.215	0.31195	N	0.700479	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.982	D	0.86390	0.1735	10	0.87932	D	0	-1.7891	11.0115	0.47665	0.0:0.0:0.6616:0.3384	.	2;2;2;2	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	G	2	ENSP00000233057:A2G;ENSP00000378559:A2G;ENSP00000385014:A2G	ENSP00000233057:A2G	A	-	2	0	EIF2AK2	37228449	0.964000	0.33143	0.664000	0.29753	0.056000	0.15407	1.681000	0.37618	0.684000	0.31448	0.650000	0.86243	GCT		0.403	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		C	37374945	G	C	37374945	3	2	229	1	0	0	0	0	1	0	0	0	4997	971	34	3	1710	3	EIF2AK2	2	37374945	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	8210612	37374945	205824428	12	12954											
TPRKB	51002	genome.wustl.edu	37	2	73961607	73961607	+	Silent	SNP	T	T	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr2:73961607T>C	ENST00000272424.5	-	2	196	c.90A>G	c.(88-90)agA>agG	p.R30R	TPRKB_ENST00000318190.7_Silent_p.R30R|TPRKB_ENST00000409716.2_Silent_p.R30R	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	30					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.R30R(1)		lung(2)|ovary(1)|skin(1)	4						TGGCCTTTCTTCTCAAGTCTC	0.418																																																1	Substitution - coding silent(1)	ovary(1)	2											138	133	135					2																	73961607		2203	4300	6503	73815115	SO:0001819	synonymous_variant	51002			AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.90A>G	2.37:g.73961607T>C			73815115	D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	Silent	SNP	ENST00000272424.5	37	CCDS1927.1																																																																																				0.418	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252046.2	NM_016058		C	73961607	T	C	73961607	2	2	229	1	0	0	0	0	0	0	0	1	16420	1780	62	4		4	TPRKB	2	73961607	Silent	SNP	T	TCGA-24-1463-01A-01W-0549-09	36586662	73961607	169237766	13	12955											
C2orf89	129293	genome.wustl.edu	37	2	85097742	85097742	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr2:85097742G>T	ENST00000409520.2	-	2	318	c.276C>A	c.(274-276)gaC>gaA	p.D92E	TRABD2A_ENST00000409133.1_Missense_Mutation_p.D92E|TRABD2A_ENST00000335459.5_Missense_Mutation_p.D92E	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	92					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.D92E(1)									TGGTATAGGGGTCTGTGAGAT	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											40	43	42					2																	85097742		2014	4167	6181	84951253	SO:0001583	missense	129293			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.276C>A	2.37:g.85097742G>T	ENSP00000387075:p.Asp92Glu		84951253	B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37		.	.	.	.	.	.	.	.	.	.	G	16.00	2.997863	0.54147	.	.	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.26223	1.75;1.75;1.75	3.11	3.11	0.35812	.	0.000000	0.64402	D	0.000002	T	0.40297	0.1111	.	.	.	0.46609	D	0.999127	P;P;P	0.51057	0.833;0.615;0.941	B;P;P	0.55965	0.301;0.458;0.788	T	0.33879	-0.9851	9	0.52906	T	0.07	.	11.6748	0.51424	0.0:0.0:1.0:0.0	.	92;92;92	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	E	92	ENSP00000335004:D92E;ENSP00000387075:D92E;ENSP00000387183:D92E	ENSP00000335004:D92E	D	-	3	2	C2orf89	84951253	1.000000	0.71417	0.791000	0.31998	0.195000	0.23768	2.825000	0.48096	1.589000	0.49982	0.455000	0.32223	GAC		0.557	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		T	85097742	G	T	85097742	3	4	229	1	0	0	0	0	1	0	0	0	2203	1252	44	3	1114	3	C2orf89	2	85097742	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	11136135	85097742	158101631	14	12956											
DPP10	57628	genome.wustl.edu	37	2	116534805	116534805	+	Missense_Mutation	SNP	G	G	A	rs150929011		TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr2:116534805G>A	ENST00000410059.1	+	14	1723	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	DPP10_ENST00000310323.8_Missense_Mutation_p.V408M|DPP10_ENST00000393147.2_Missense_Mutation_p.V419M|DPP10_ENST00000409163.1_Missense_Mutation_p.V365M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	415						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.V408M(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GCAAATTACCGTGCGGCATCT	0.378																																																1	Substitution - Missense(1)	ovary(1)	2						G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	3,4403	6.2+/-15.9	0,3,2200	108	105	106		1222,1255,1093,1231,1243	4.1	0.9	2	dbSNP_134	106	0,8598		0,0,4299	no	missense,missense,missense,missense,missense	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	21,21,21,21,21	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign,benign,benign	408/790,419/801,365/747,411/793,415/797	116534805	3,13001	2203	4299	6502	116251275	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1243G>A	2.37:g.116534805G>A	ENSP00000386565:p.Val415Met		116251275	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493314	0.44352	6.81E-4	0.0	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.97	4.1	0.47936	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.202355	0.42548	N	0.000696	T	0.20536	0.0494	L	0.29908	0.895	0.44946	D	0.997961	B;P;B;P	0.38677	0.385;0.524;0.439;0.642	B;B;B;B	0.36378	0.063;0.086;0.104;0.223	T	0.04115	-1.0976	10	0.62326	D	0.03	-14.5709	7.6174	0.28167	0.1874:0.0:0.8126:0.0	.	408;419;411;415	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	415;365;419;408;365	ENSP00000386565:V415M;ENSP00000387038:V365M;ENSP00000376855:V419M;ENSP00000309066:V408M	ENSP00000309066:V408M	V	+	1	0	DPP10	116251275	1.000000	0.71417	0.893000	0.35052	0.992000	0.81027	3.538000	0.53597	1.452000	0.47756	0.655000	0.94253	GTG		0.378	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116534805	G	A	116534805	3	1	229	1	0	0	0	0	1	0	0	0	4727	1145	40	1	1468	1	DPP10	2	116534805	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	31437063	116534805	126664568	15	12957											
RAB3GAP1	22930	genome.wustl.edu	37	2	135926294	135926294	+	Silent	SNP	C	C	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr2:135926294C>T	ENST00000264158.8	+	24	2932	c.2889C>T	c.(2887-2889)ctC>ctT	p.L963L	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Silent_p.L919L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.L970L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	963					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.L963L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACAGTGTTCTCACCAAAGAGG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	2											111	110	110					2																	135926294		2203	4300	6503	135642764	SO:0001819	synonymous_variant	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2889C>T	2.37:g.135926294C>T			135642764	A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	ENST00000264158.8	37	CCDS33294.1																																																																																				0.527	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		T	135926294	C	T	135926294	2	4	229	1	0	0	0	0	0	0	0	1	12938	813	29	2		2	RAB3GAP1	2	135926294	Silent	SNP	C	TCGA-24-1463-01A-01W-0549-09	19391489	135926294	107273079	16	12958											
TTN	7273	genome.wustl.edu	37	2	179398820	179398820	+	Silent	SNP	G	G	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr2:179398820G>C	ENST00000591111.1	-	308	97823	c.97599C>G	c.(97597-97599)gtC>gtG	p.V32533V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.V25234V|TTN_ENST00000460472.2_Silent_p.V25109V|TTN_ENST00000589042.1_Silent_p.V34174V|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.V31606V|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342175.6_Silent_p.V25301V|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32533	Ig-like 143.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V25109V(1)|p.V31604V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCTGTCGGACGCCAAAGT	0.408																																																2	Substitution - coding silent(2)	ovary(2)	2											115	113	113					2																	179398820		1952	4146	6098	179107066	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97599C>G	2.37:g.179398820G>C			179107066	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179398820	G	C	179398820	2	2	229	1	0	0	0	0	0	0	0	1	16735	1161	41	3		3	TTN	2	179398820	Silent	SNP	G	TCGA-24-1463-01A-01W-0549-09	43472526	179398820	63800553	17	12959											
SP100	6672	genome.wustl.edu	37	2	231311566	231311568	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	GAA	GAA	GAA	-	GAA	GAA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr2:231311566_231311568delGAA	ENST00000264052.5	+	5	827_829	c.472_474delGAA	c.(472-474)gaadel	p.E161del	SP100_ENST00000409897.1_In_Frame_Del_p.E126del|SP100_ENST00000341950.4_In_Frame_Del_p.E161del|SP100_ENST00000427101.2_In_Frame_Del_p.E136del|SP100_ENST00000409824.1_In_Frame_Del_p.E136del|SP100_ENST00000409341.1_In_Frame_Del_p.E161del|SP100_ENST00000409112.1_In_Frame_Del_p.E161del|SP100_ENST00000340126.4_In_Frame_Del_p.E161del	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	161	Poly-Glu.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E158del(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCAAGAAAGTGAAGAAGAAGAGA	0.424																																																1	Deletion - In frame(1)	ovary(1)	2																																								231019812	SO:0001651	inframe_deletion	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.472_474delGAA	2.37:g.231311572_231311574delGAA	ENSP00000264052:p.Glu161del		231019810	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	In_Frame_Del	DEL	ENST00000264052.5	37	CCDS2477.1																																																																																				0.424	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		-	231311568	GAA	-	231311566	7	5	229	1	0	1	0	1	0	0	0	0	14963	1291	45	0	490	0	SP100	2	231311566	In_Frame_Del	DEL	GAA	TCGA-24-1463-01A-01W-0549-09	51912746	231311566	11887807	18	12960											
ATP2B2	491	genome.wustl.edu	37	3	10370704	10370704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr3:10370704C>A	ENST00000352432.4	-	22	3595	c.3526G>T	c.(3526-3528)Gaa>Taa	p.E1176*	ATP2B2_ENST00000397077.1_Nonsense_Mutation_p.E1131*|MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000383800.4_Nonsense_Mutation_p.E1131*|ATP2B2_ENST00000343816.4_Nonsense_Mutation_p.E1162*|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000360273.2_Nonsense_Mutation_p.E1176*			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1176					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.E1131*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGGGAATCTTCGATCCGGAAT	0.527																																					Ovarian(125;1619 1709 15675 19819 38835)											1	Substitution - Nonsense(1)	ovary(1)	3											93	84	87					3																	10370704		2203	4300	6503	10345704	SO:0001587	stop_gained	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3526G>T	3.37:g.10370704C>A	ENSP00000324172:p.Glu1176*		10345704	O00766|Q12994|Q16818	Nonsense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	45	11.325114	0.99547	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124	.	.	.	5.55	4.67	0.58626	.	0.114019	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-15.3774	14.4887	0.67634	0.0:0.9292:0.0:0.0708	.	.	.	.	X	1176;1131;1131;1176;1162;1111;365;1032	.	ENSP00000344677:E1162X	E	-	1	0	ATP2B2	10345704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.806000	0.86020	1.334000	0.45468	0.650000	0.86243	GAA		0.527	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		A	10370704	C	A	10370704	4	1	229	1	0	0	0	0	0	1	0	0	1140	893	31	3	209	3	ATP2B2	3	10370704	Nonsense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09		10370704	187651726	19	12961											
LYAR	55646	genome.wustl.edu	37	4	4285450	4285450	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr4:4285450T>C	ENST00000343470.4	-	3	260	c.20A>G	c.(19-21)aAt>aGt	p.N7S	LYAR_ENST00000452476.1_Missense_Mutation_p.N7S	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	7						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N7S(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACATGCATTGCATGTAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											83	76	78					4																	4285450		2203	4300	6503	4336351	SO:0001583	missense	55646			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.20A>G	4.37:g.4285450T>C	ENSP00000345917:p.Asn7Ser		4336351	D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469166	0.63625	.	.	ENSG00000145220	ENST00000343470;ENST00000452476;ENST00000513174	T;T	0.34667	1.35;1.35	5.37	5.37	0.77165	.	0.082117	0.85682	D	0.000000	T	0.48642	0.1511	L	0.52905	1.665	0.80722	D	1	P	0.50443	0.935	P	0.55011	0.766	T	0.45585	-0.9251	10	0.48119	T	0.1	-36.9748	14.3451	0.66654	0.0:0.0:0.0:1.0	.	7	Q9NX58	LYAR_HUMAN	S	7	ENSP00000345917:N7S;ENSP00000397367:N7S	ENSP00000345917:N7S	N	-	2	0	LYAR	4336351	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	5.555000	0.67301	2.036000	0.60181	0.482000	0.46254	AAT		0.333	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		C	4285450	T	C	4285450	3	2	229	1	0	0	0	0	1	0	0	0	9103	1493	52	4	1151	4	LYAR	4	4285450	Missense_Mutation	SNP	T	TCGA-24-1463-01A-01W-0549-09		4285450	186868826	20	12962											
QDPR	5860	genome.wustl.edu	37	4	17506060	17506060	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr4:17506060C>A	ENST00000281243.5	-	3	416	c.237G>T	c.(235-237)aaG>aaT	p.K79N	QDPR_ENST00000513615.1_Missense_Mutation_p.K79N|QDPR_ENST00000508623.1_Missense_Mutation_p.K79N|QDPR_ENST00000428702.2_Missense_Mutation_p.K48N	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	79					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)	p.K79N(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTGCATCCACCTTCTCTTCAC	0.468																																																1	Substitution - Missense(1)	ovary(1)	4											147	136	139					4																	17506060		2203	4300	6503	17115158	SO:0001583	missense	5860			AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"Short chain dehydrogenase/reductase superfamily / Atypical members"	9752	protein-coding gene	gene with protein product	"6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1"	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.237G>T	4.37:g.17506060C>A	ENSP00000281243:p.Lys79Asn		17115158	A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	CCDS3421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.83|17.83	3.486075|3.486075	0.63962|0.63962	.|.	.|.	ENSG00000151552|ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623|ENST00000505710	D;D;D;D|.	0.94931|.	-3.56;-2.3;-3.56;-3.56|.	5.5|5.5	3.45|3.45	0.39498|0.39498	NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80747|0.80747	0.4682|0.4682	M|M	0.92738|0.92738	3.34|3.34	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.65815|.	0.995;0.984|.	D;P|.	0.69654|.	0.965;0.866|.	D|D	0.84994|0.84994	0.0896|0.0896	10|5	0.66056|.	D|.	0.02|.	-10.3311|-10.3311	12.2095|12.2095	0.54371|0.54371	0.0:0.8351:0.0:0.1649|0.0:0.8351:0.0:0.1649	.|.	48;79|.	B3KW71;P09417|.	.;DHPR_HUMAN|.	N|M	79;79;48;79|55	ENSP00000422759:K79N;ENSP00000281243:K79N;ENSP00000390944:K48N;ENSP00000426377:K79N|.	ENSP00000281243:K79N|.	K|R	-|-	3|2	2|0	QDPR|QDPR	17115158|17115158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	1.052000|1.052000	0.30429|0.30429	1.322000|1.322000	0.45245|0.45245	0.563000|0.563000	0.77884|0.77884	AAG|AGG		0.468	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		A	17506060	C	A	17506060	3	1	229	1	0	0	0	0	1	0	0	0	12875	680	24	3	517	3	QDPR	4	17506060	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	13220610	17506060	173648216	21	12963											
KLKB1	3818	genome.wustl.edu	37	4	187155191	187155191	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr4:187155191C>A	ENST00000264690.6	+	4	494	c.307C>A	c.(307-309)Caa>Aaa	p.Q103K	KLKB1_ENST00000513864.1_Missense_Mutation_p.Q103K	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	103	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.Q103K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTCCTTGAAGCAATGTGGTCA	0.373																																																1	Substitution - Missense(1)	ovary(1)	4											152	142	146					4																	187155191		2203	4300	6503	187392185	SO:0001583	missense	3818			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.307C>A	4.37:g.187155191C>A	ENSP00000264690:p.Gln103Lys		187392185	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.26|18.26	3.583679|3.583679	0.65992|0.65992	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715|ENST00000511608	D;D;D;D;D|.	0.89050|.	-2.46;-2.46;-2.46;-2.46;-2.46|.	4.73|4.73	4.73|4.73	0.59995|0.59995	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.444000|.	0.21632|.	N|.	0.071470|.	T|T	0.66056|0.66056	0.2751|0.2751	M|M	0.75777|0.75777	2.31|2.31	0.29384|0.29384	N|N	0.863074|0.863074	B;B|.	0.23735|.	0.029;0.09|.	B;B|.	0.26094|.	0.066;0.055|.	T|T	0.63651|0.63651	-0.6589|-0.6589	10|5	0.59425|.	D|.	0.04|.	.|.	15.0883|15.0883	0.72174|0.72174	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	65;103|.	E7EQA8;P03952|.	.;KLKB1_HUMAN|.	K|R	103;103;65;65;103;65|150	ENSP00000412366:Q103K;ENSP00000264690:Q103K;ENSP00000415563:Q65K;ENSP00000392231:Q65K;ENSP00000424469:Q103K|.	ENSP00000264690:Q103K|.	Q|S	+|+	1|3	0|2	KLKB1|KLKB1	187392185|187392185	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.724000|0.724000	0.41520|0.41520	2.980000|2.980000	0.49321|0.49321	2.626000|2.626000	0.88956|0.88956	0.650000|0.650000	0.86243|0.86243	CAA|AGC		0.373	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		A	187155191	C	A	187155191	3	1	229	1	0	0	0	0	1	0	0	0	8412	711	25	3	317	3	KLKB1	4	187155191	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	169649131	187155191	3999085	22	12964											
ADAMTS16	170690	genome.wustl.edu	37	5	5186221	5186221	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr5:5186221T>C	ENST00000274181.7	+	5	958	c.820T>C	c.(820-822)Tgc>Cgc	p.C274R	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.C274R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	274					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C274R(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTATAAGTCTTGCTTACGGCA	0.493																																																2	Substitution - Missense(2)	ovary(2)	5											163	159	160					5																	5186221		1936	4157	6093	5239221	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.820T>C	5.37:g.5186221T>C	ENSP00000274181:p.Cys274Arg		5239221	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	0.051	-1.250076	0.01469	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.59906	0.29;0.23	5.51	-11.0	0.00169	.	0.920339	0.09304	N	0.820468	T	0.28962	0.0719	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.09618	-1.0666	10	0.14656	T	0.56	.	6.2214	0.20683	0.2053:0.0989:0.5852:0.1105	.	274;274;274	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	R	274	ENSP00000274181:C274R;ENSP00000421631:C274R	ENSP00000274181:C274R	C	+	1	0	ADAMTS16	5239221	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.605000	0.02074	-1.479000	0.01867	-0.313000	0.08912	TGC		0.493	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		C	5186221	T	C	5186221	3	2	229	1	0	0	0	0	1	0	0	0	261	1812	63	4	838	4	ADAMTS16	5	5186221	Missense_Mutation	SNP	T	TCGA-24-1463-01A-01W-0549-09		5186221	175729039	23	12965											
PCDHB12	56124	genome.wustl.edu	37	5	140588530	140588530	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr5:140588530C>G	ENST00000239450.2	+	1	240	c.51C>G	c.(49-51)ttC>ttG	p.F17L	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	17					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F17L(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGCTTTTCTTTGTTTTGC	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											107	109	108					5																	140588530		2203	4300	6503	140568714	SO:0001583	missense	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.51C>G	5.37:g.140588530C>G	ENSP00000239450:p.Phe17Leu		140568714	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	2.761	-0.257825	0.05791	.	.	ENSG00000120328	ENST00000239450	T	0.42131	0.98	4.15	2.3	0.28687	.	.	.	.	.	T	0.12646	0.0307	N	0.01277	-0.915	0.54753	D	0.999987	B	0.02656	0.0	B	0.04013	0.001	T	0.26503	-1.0101	9	0.02654	T	1	.	9.1429	0.36914	0.0:0.8156:0.0:0.1844	.	17	Q9Y5F1	PCDBC_HUMAN	L	17	ENSP00000239450:F17L	ENSP00000239450:F17L	F	+	3	2	PCDHB12	140568714	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	-0.025000	0.12413	0.857000	0.35407	0.561000	0.74099	TTC		0.483	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		G	140588530	C	G	140588530	3	3	229	1	0	0	0	0	1	0	0	0	11537	912	32	3	53	3	PCDHB12	5	140588530	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	135402309	140588530	40326730	24	12966											
KIF4B	285643	genome.wustl.edu	37	5	154395557	154395557	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr5:154395557G>T	ENST00000435029.4	+	1	2298	c.2138G>T	c.(2137-2139)cGa>cTa	p.R713L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	713	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.G748V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCAACAAGCGACTCAAGGAT	0.483																																																2	Substitution - Missense(2)	ovary(2)	5											88	89	88					5																	154395557		2203	4300	6503	154375750	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2138G>T	5.37:g.154395557G>T	ENSP00000387875:p.Arg713Leu		154375750		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	16.99	3.273454	0.59649	.	.	ENSG00000226650	ENST00000435029	T	0.18174	2.23	2.54	2.54	0.30619	.	.	.	.	.	T	0.42337	0.1198	M	0.85859	2.78	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.41963	-0.9479	9	0.51188	T	0.08	.	10.7682	0.46305	0.0:0.0:1.0:0.0	.	713	Q2VIQ3	KIF4B_HUMAN	L	713	ENSP00000387875:R713L	ENSP00000387875:R713L	R	+	2	0	KIF4B	154375750	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	4.386000	0.59620	1.138000	0.42230	0.563000	0.77884	CGA		0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154395557	G	T	154395557	3	4	229	1	0	0	0	0	1	0	0	0	8304	1058	37	3	2140	3	KIF4B	5	154395557	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	13807027	154395557	26519703	25	12967											
ODZ2	57451	genome.wustl.edu	37	5	167671470	167671470	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr5:167671470C>G	ENST00000518659.1	+	26	5605	c.5566C>G	c.(5566-5568)Cgg>Ggg	p.R1856G	TENM2_ENST00000545108.1_Missense_Mutation_p.R1855G|TENM2_ENST00000519204.1_Missense_Mutation_p.R1735G|TENM2_ENST00000520394.1_Missense_Mutation_p.R1617G|TENM2_ENST00000403607.2_Missense_Mutation_p.R1680G	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1856					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R1689G(1)									TCGAAATATTCGGACTGAAAA	0.517																																																1	Substitution - Missense(1)	ovary(1)	5											65	61	62					5																	167671470		1901	4127	6028	167604048	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5566C>G	5.37:g.167671470C>G	ENSP00000429430:p.Arg1856Gly		167604048	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	19.59	3.855876	0.71834	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90133	-2.15;-2.14;-2.26;-2.59;-2.62	4.9	4.9	0.64082	.	0.162744	0.56097	D	0.000026	D	0.93344	0.7878	M	0.80183	2.485	0.45930	D	0.998762	P;P;P	0.42010	0.768;0.658;0.712	P;B;B	0.48425	0.577;0.373;0.237	D	0.93601	0.6930	10	0.48119	T	0.1	.	18.1051	0.89517	0.0:1.0:0.0:0.0	.	1855;1856;1617	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	G	1856;1855;1735;1617;1680	ENSP00000429430:R1856G;ENSP00000438635:R1855G;ENSP00000428964:R1735G;ENSP00000427874:R1617G;ENSP00000384905:R1680G	ENSP00000384905:R1680G	R	+	1	2	ODZ2	167604048	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	6.032000	0.70918	2.275000	0.75901	0.561000	0.74099	CGG		0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		G	167671470	C	G	167671470	3	3	229	1	0	0	0	0	1	0	0	0	10835	875	31	3	5641	3	ODZ2	5	167671470	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	13275913	167671470	13243790	26	12968											
OR2J2	26707	genome.wustl.edu	37	6	29142330	29142331	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	GG	GG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr6:29142330_29142331GG>TT	ENST00000377167.2	+	1	1020_1021	c.918_919GG>TT	c.(916-921)ttGGgg>ttTTgg	p.306_307LG>FW		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L306_G307>FW(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGAGACTATTGGGGTGGGAGTG	0.446																																																1	Complex - compound substitution(1)	ovary(1)	6																																								29250310	SO:0001583	missense	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	Exception_encountered	6.37:g.29142330_29142331delinsTT	ENSP00000366372:p.L306_G307delinsFW		29250309	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	DNP	ENST00000377167.2	37	CCDS43434.1																																																																																				0.446	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			TT	29142331	GG	TT	29142330	3	4	229	1	0	0	0	0	1	0	0	0	11003	1339	47	3	920	3	OR2J2	6	29142330	Missense_Mutation	DNP	GG	TCGA-24-1463-01A-01W-0549-09		29142330	141972737	27	12969											
DAAM2	23500	genome.wustl.edu	37	6	39835375	39835386	+	In_Frame_Del	DEL	TCCACACCTCAC	TCCACACCTCAC	-	rs34365214|rs375543916		TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	TCCACACCTCAC	TCCACACCTCAC	TCCACACCTCAC	-	TCCACACCTCAC	TCCACACCTCAC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr6:39835375_39835386delTCCACACCTCAC	ENST00000398904.2	+	6	700_711	c.518_529delTCCACACCTCAC	c.(517-531)atccacacctcactc>atc	p.HTSL174del	DAAM2_ENST00000538976.1_In_Frame_Del_p.HTSL174del|DAAM2_ENST00000274867.4_In_Frame_Del_p.HTSL174del			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	174	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.H174_L177del(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGAGCCGCATCCACACCTCACTCATTGGCTG	0.557																																																1	Deletion - In frame(1)	ovary(1)	6																																								39943364	SO:0001651	inframe_deletion	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.518_529delTCCACACCTCAC	6.37:g.39835375_39835386delTCCACACCTCAC	ENSP00000381876:p.His174_Leu177del		39943353	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	In_Frame_Del	DEL	ENST00000398904.2	37	CCDS56426.1																																																																																				0.557	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			-	39835386	TCCACACCTCAC	-	39835375	7	5	229	1	0	1	0	1	0	0	0	0	4216	1435	50	0	536	0	DAAM2	6	39835375	In_Frame_Del	DEL	TCCACACCTCAC	TCGA-24-1463-01A-01W-0549-09	10693045	39835375	131279692	28	12970											
LRFN2	57497	genome.wustl.edu	37	6	40359689	40359689	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr6:40359689G>A	ENST00000338305.6	-	3	2905	c.2363C>T	c.(2362-2364)aCg>aTg	p.T788M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	788						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T788M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCTAGACCGTGCTCTCCAT	0.592																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	6											45	47	46					6																	40359689		2203	4300	6503	40467667	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2363C>T	6.37:g.40359689G>A	ENSP00000345985:p.Thr788Met		40467667	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950136	0.73787	.	.	ENSG00000156564	ENST00000338305	T	0.68025	-0.3	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74244	-0.3728	10	0.87932	D	0	.	17.664	0.88199	0.0:0.0:1.0:0.0	.	788	Q9ULH4	LRFN2_HUMAN	M	788	ENSP00000345985:T788M	ENSP00000345985:T788M	T	-	2	0	LRFN2	40467667	1.000000	0.71417	0.974000	0.42286	0.889000	0.51656	7.873000	0.87193	2.523000	0.85059	0.555000	0.69702	ACG		0.592	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		A	40359689	G	A	40359689	3	1	229	1	0	0	0	0	1	0	0	0	8938	1145	40	1	10	1	LRFN2	6	40359689	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	524314	40359689	130755378	29	12971											
PEX3	8504	genome.wustl.edu	37	6	143792585	143792585	+	Splice_Site	SNP	T	T	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr6:143792585T>A	ENST00000367591.4	+	6	585	c.522T>A	c.(520-522)gaT>gaA	p.D174E		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	174					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)	p.D174E(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TACTTGGAGATGGTAAGATTC	0.299																																																1	Substitution - Missense(1)	ovary(1)	6											96	97	97					6																	143792585		2203	4297	6500	143834278	SO:0001630	splice_region_variant	8504			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.523+1T>A	6.37:g.143792585T>A			143834278	Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.998910	0.35226	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.39229	1.09;1.09	5.32	2.84	0.33178	.	0.043317	0.85682	D	0.000000	T	0.10423	0.0255	N	0.21583	0.68	0.53688	D	0.999971	B;B	0.25048	0.0;0.117	B;B	0.29524	0.004;0.103	T	0.09271	-1.0682	10	0.06757	T	0.87	-17.9749	9.6308	0.39778	0.0:0.2067:0.0:0.7933	.	174;174	B4DV31;P56589	.;PEX3_HUMAN	E	130;130;174	ENSP00000356564:D130E;ENSP00000356563:D174E	ENSP00000344195:D130E	D	+	3	2	PEX3	143834278	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.446000	0.21694	0.906000	0.36621	0.482000	0.46254	GAT		0.299	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1		Missense_Mutation	A	143792585	T	A	143792585	5	1	229	1	0	0	0	0	0	0	1	0	11747	1478	51	5	544	5	PEX3	6	143792585	Splice_Site	SNP	T	TCGA-24-1463-01A-01W-0549-09	103432896	143792585	27322482	30	12972											
C7orf26	79034	genome.wustl.edu	37	7	6639732	6639732	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr7:6639732C>G	ENST00000344417.5	+	4	1120	c.853C>G	c.(853-855)Ctc>Gtc	p.L285V	C7orf26_ENST00000359073.5_Intron|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	285								p.L285V(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGACTCCCACCTCTTGTACTC	0.552																																																1	Substitution - Missense(1)	ovary(1)	7											66	52	57					7																	6639732		2203	4300	6503	6606257	SO:0001583	missense	79034			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.853C>G	7.37:g.6639732C>G	ENSP00000340220:p.Leu285Val		6606257	Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	CCDS5353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.711|9.711	1.156969|1.156969	0.21454|0.21454	.|.	.|.	ENSG00000146576|ENSG00000146576	ENST00000344417|ENST00000445375	T|.	0.44083|.	0.93|.	5.08|5.08	-0.141|-0.141	0.13452|0.13452	.|.	0.494474|.	0.22207|.	N|.	0.063153|.	T|T	0.25382|0.25382	0.0617|0.0617	L|L	0.39898|0.39898	1.24|1.24	0.26968|0.26968	N|N	0.965645|0.965645	B|.	0.12013|.	0.005|.	B|.	0.14023|.	0.01|.	T|T	0.26710|0.26710	-1.0095|-1.0095	10|5	0.30078|.	T|.	0.28|.	-20.8845|-20.8845	0.9996|0.9996	0.01474|0.01474	0.1614:0.4117:0.1571:0.2698|0.1614:0.4117:0.1571:0.2698	.|.	285|.	Q96N11|.	CG026_HUMAN|.	V|R	285|22	ENSP00000340220:L285V|.	ENSP00000340220:L285V|.	L|P	+|+	1|2	0|0	C7orf26|C7orf26	6606257|6606257	0.018000|0.018000	0.18449|0.18449	0.737000|0.737000	0.30932|0.30932	0.955000|0.955000	0.61496|0.61496	-0.080000|-0.080000	0.11339|0.11339	0.057000|0.057000	0.16193|0.16193	0.555000|0.555000	0.69702|0.69702	CTC|CCT		0.552	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		G	6639732	C	G	6639732	3	3	229	1	0	0	0	0	1	0	0	0	2381	681	24	3	867	3	C7orf26	7	6639732	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09		6639732	152498931	31	12973											
C7orf28B	221960	genome.wustl.edu	37	7	6864116	6864116	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr7:6864116A>C	ENST00000316731.8	-	3	854	c.282T>G	c.(280-282)aaT>aaG	p.N94K	CCZ1B_ENST00000538180.1_Intron	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	94						lysosome (GO:0005764)|membrane (GO:0016020)		p.N94K(1)									CTTCTGGTTCATTGAAGAACT	0.348																																																1	Substitution - Missense(1)	ovary(1)	7											49	54	52					7																	6864116		2163	4288	6451	6830641	SO:0001583	missense	221960			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"similar to CGI-43 protein"		"chromosome 7 open reading frame 28B"	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.282T>G	7.37:g.6864116A>C	ENSP00000314544:p.Asn94Lys		6830641	A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000316731.8	37	CCDS5354.1	.	.	.	.	.	.	.	.	.	.	.	4.847	0.157435	0.09236	.	.	ENSG00000146574	ENST00000316731	.	.	.	2.63	-0.00182	0.14032	.	0.291230	0.36740	N	0.002427	T	0.38612	0.1047	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.05599	-1.0875	8	0.28530	T	0.3	-18.5222	5.7089	0.17923	0.7249:0.0:0.2751:0.0	.	94	P86791	CCZ1_HUMAN	K	94	.	ENSP00000314544:N94K	N	-	3	2	C7orf28B	6830641	1.000000	0.71417	0.998000	0.56505	0.277000	0.26821	2.001000	0.40825	-0.098000	0.12285	0.163000	0.16589	AAT		0.348	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1	NM_198097		C	6864116	A	C	6864116	3	2	229	1	0	0	0	0	1	0	0	0	2384	214	8	5	1218	5	C7orf28B	7	6864116	Missense_Mutation	SNP	A	TCGA-24-1463-01A-01W-0549-09	224384	6864116	152274547	32	12974											
ANLN	54443	genome.wustl.edu	37	7	36483373	36483373	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr7:36483373G>C	ENST00000265748.2	+	22	3201	c.2980G>C	c.(2980-2982)Gaa>Caa	p.E994Q	ANLN_ENST00000396068.2_Missense_Mutation_p.E957Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	994	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.E994Q(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GACCATATTTGAAGATGTTAG	0.383																																																1	Substitution - Missense(1)	ovary(1)	7											143	124	130					7																	36483373		2203	4300	6503	36449898	SO:0001583	missense	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2980G>C	7.37:g.36483373G>C	ENSP00000265748:p.Glu994Gln		36449898	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	28.4|28.4|28.4	4.916763|4.916763|4.916763	0.92249|0.92249|0.92249	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000265748;ENST00000396068|ENST00000457743|ENST00000428612	T;T|.|.	0.76578|.|.	-1.03;-1.03|.|.	5.43|5.43|5.43	5.43|5.43|5.43	0.79202|0.79202|0.79202	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.57695|0.57695|.	0.2071|0.2071|.	L|L|L	0.28649|0.28649|0.28649	0.875|0.875|0.875	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.91635|.|.	0.999;0.998;0.997;0.998|.|.	T|T|.	0.52335|0.52335|.	-0.8589|-0.8589|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-25.9669|-25.9669|-25.9669	18.2422|18.2422|18.2422	0.89971|0.89971|0.89971	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	871;956;957;994|.|.	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6|.|.	.;.;.;ANLN_HUMAN|.|.	Q|F|S	994;957|215|158	ENSP00000265748:E994Q;ENSP00000379380:E957Q|.|.	ENSP00000265748:E994Q|.|.	E|L|X	+|+|+	1|3|2	0|2|2	ANLN|ANLN|ANLN	36449898|36449898|36449898	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.715000|9.715000|9.715000	0.98748|0.98748|0.98748	2.538000|2.538000|2.538000	0.85594|0.85594|0.85594	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|TTG|TGA		0.383	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		C	36483373	G	C	36483373	3	2	229	1	0	0	0	0	1	0	0	0	694	1291	45	3	3066	3	ANLN	7	36483373	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	29619257	36483373	122655290	33	12975											
ZNF862	643641	genome.wustl.edu	37	7	149545320	149545320	+	Silent	SNP	G	G	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr7:149545320G>T	ENST00000223210.4	+	4	983	c.738G>T	c.(736-738)ggG>ggT	p.G246G		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G246G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ACCCCCCAGGGCCTCTGGGAG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	7											20	22	21					7																	149545320		1842	4095	5937	149176253	SO:0001819	synonymous_variant	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.738G>T	7.37:g.149545320G>T			149176253	A0AUL8	Silent	SNP	ENST00000223210.4	37	CCDS47741.1																																																																																				0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		T	149545320	G	T	149545320	2	4	229	1	0	0	0	0	0	0	0	1	18195	1190	42	3		3	ZNF862	7	149545320	Silent	SNP	G	TCGA-24-1463-01A-01W-0549-09	113061947	149545320	9593343	34	12976											
TRIM8	81603	genome.wustl.edu	37	10	104417026	104417026	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr10:104417026G>C	ENST00000302424.7	+	6	1693	c.1571G>C	c.(1570-1572)tGg>tCg	p.W524S		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	524					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.W524S(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTCAGAGACTGGCTTGACGCC	0.662																																																1	Substitution - Missense(1)	ovary(1)	10											34	33	34					10																	104417026		2203	4300	6503	104407016	SO:0001583	missense	81603			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1571G>C	10.37:g.104417026G>C	ENSP00000302120:p.Trp524Ser		104407016	A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664583	0.67700	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.79454	-1.27	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.85027	0.0915	10	0.87932	D	0	.	18.8291	0.92130	0.0:0.0:1.0:0.0	.	524	Q9BZR9	TRIM8_HUMAN	S	524;523	ENSP00000302120:W524S	ENSP00000302120:W524S	W	+	2	0	TRIM8	104407016	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.277000	0.95755	2.456000	0.83038	0.491000	0.48974	TGG		0.662	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		C	104417026	G	C	104417026	3	2	229	1	0	0	0	0	1	0	0	0	16548	1357	47	3	1593	3	TRIM8	10	104417026	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09		104417026	31117721	35	12977											
EEF1G	1937	genome.wustl.edu	37	11	62341305	62341305	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr11:62341305C>A	ENST00000329251.4	-	1	140	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	EEF1G_ENST00000532986.1_Intron|MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Intron	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	4	GST N-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)	p.G4W(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAACTTACCCCAGCCGCCATG	0.627																																																1	Substitution - Missense(1)	ovary(1)	11											30	38	36					11																	62341305		1905	4100	6005	62097881	SO:0001583	missense	1937			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.10G>T	11.37:g.62341305C>A	ENSP00000331901:p.Gly4Trp		62097881	B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575772	0.86645	.	.	ENSG00000254772	ENST00000329251	T	0.07800	3.16	5.02	5.02	0.67125	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	.	.	.	.	T	0.27559	0.0677	M	0.92555	3.32	0.80722	D	1	P	0.36010	0.532	P	0.45538	0.484	T	0.08411	-1.0723	9	0.87932	D	0	.	14.1882	0.65620	0.0:1.0:0.0:0.0	.	4	P26641	EF1G_HUMAN	W	4	ENSP00000331901:G4W	ENSP00000331901:G4W	G	-	1	0	EEF1G	62097881	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.806000	0.55583	2.491000	0.84063	0.563000	0.77884	GGG		0.627	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		A	62341305	C	A	62341305	3	1	229	1	0	0	0	0	1	0	0	0	4928	594	21	3	1343	3	EEF1G	11	62341305	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09		62341305	72665211	36	12978											
PGM2L1	283209	genome.wustl.edu	37	11	74056676	74056676	+	Silent	SNP	G	G	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr11:74056676G>A	ENST00000298198.4	-	9	1367	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	352					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.F352F(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CATTCCCTGTGAAAACTTTCC	0.368																																																1	Substitution - coding silent(1)	ovary(1)	11											96	88	91					11																	74056676		2200	4293	6493	73734324	SO:0001819	synonymous_variant	283209			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1056C>T	11.37:g.74056676G>A			73734324	Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	CCDS8231.1																																																																																				0.368	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		A	74056676	G	A	74056676	2	1	229	1	0	0	0	0	0	0	0	1	11799	1281	45	2		2	PGM2L1	11	74056676	Silent	SNP	G	TCGA-24-1463-01A-01W-0549-09	11715371	74056676	60949840	37	12979											
MYO7A	4647	genome.wustl.edu	37	11	76900457	76900457	+	Missense_Mutation	SNP	G	G	T	rs397516301		TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr11:76900457G>T	ENST00000409709.3	+	28	3844	c.3572G>T	c.(3571-3573)gGc>gTc	p.G1191V	MYO7A_ENST00000409619.2_Missense_Mutation_p.G1180V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1191V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1191	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.G1191V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TATGCCCGGGGCTGGATTCTC	0.617																																																1	Substitution - Missense(1)	ovary(1)	11											82	93	89					11																	76900457		2035	4162	6197	76578105	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3572G>T	11.37:g.76900457G>T	ENSP00000386331:p.Gly1191Val		76578105	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	30	5.050997	0.93740	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.43	5.43	0.79202	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98720	1.0708	10	0.87932	D	0	.	19.2615	0.93970	0.0:0.0:1.0:0.0	.	1180;1191;1191	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	V	1191;1191;1180;402;1190;1160;1067;372	ENSP00000386331:G1191V;ENSP00000392185:G1191V;ENSP00000386635:G1180V;ENSP00000417017:G372V	ENSP00000345075:G1067V	G	+	2	0	MYO7A	76578105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.546000	0.85860	0.643000	0.83706	GGC		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76900457	G	T	76900457	3	4	229	1	0	0	0	0	1	0	0	0	10082	1203	42	3	3712	3	MYO7A	11	76900457	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	2843781	76900457	58106059	38	12980											
TAS2R9	50835	genome.wustl.edu	37	12	10962049	10962049	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr12:10962049G>T	ENST00000240691.2	-	1	718	c.626C>A	c.(625-627)aCc>aAc	p.T209N	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	209					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)	p.T209N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATCTGCTTGGTGTGTCTAAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											81	82	82					12																	10962049		2203	4300	6503	10853316	SO:0001583	missense	50835			AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.626C>A	12.37:g.10962049G>T	ENSP00000240691:p.Thr209Asn		10853316	Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	G	8.850	0.944293	0.18356	.	.	ENSG00000121381	ENST00000240691	T	0.00816	5.66	4.14	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.368719	0.20653	U	0.088162	T	0.02649	0.0080	M	0.71871	2.18	0.09310	N	1	D	0.60575	0.988	D	0.63381	0.914	T	0.43572	-0.9383	10	0.27082	T	0.32	.	3.546	0.07828	0.211:0.0:0.5885:0.2005	.	209	Q9NYW1	TA2R9_HUMAN	N	209	ENSP00000240691:T209N	ENSP00000240691:T209N	T	-	2	0	TAS2R9	10853316	0.000000	0.05858	0.249000	0.24280	0.008000	0.06430	-0.863000	0.04259	0.464000	0.27142	0.650000	0.86243	ACC		0.478	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			T	10962049	G	T	10962049	3	4	229	1	0	0	0	0	1	0	0	0	15588	1261	44	3	316	3	TAS2R9	12	10962049	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09		10962049	122889846	39	12981											
KCNJ8	3764	genome.wustl.edu	37	12	21919537	21919537	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr12:21919537A>G	ENST00000240662.2	-	3	740	c.395T>C	c.(394-396)cTc>cCc	p.L132P	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	132					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.L132P(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	AATGGAGAAGAGAAAAGCAGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											58	54	55					12																	21919537		2203	4300	6503	21810804	SO:0001583	missense	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.395T>C	12.37:g.21919537A>G	ENSP00000240662:p.Leu132Pro		21810804	O00657	Missense_Mutation	SNP	ENST00000240662.2	37	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998003	0.74818	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.96232	-3.95	5.11	5.11	0.69529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.059206	0.64402	D	0.000002	D	0.98620	0.9538	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99755	1.1019	10	0.87932	D	0	.	15.0766	0.72082	1.0:0.0:0.0:0.0	.	132	Q15842	IRK8_HUMAN	P	132	ENSP00000240662:L132P	ENSP00000240662:L132P	L	-	2	0	KCNJ8	21810804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.123000	0.94387	2.154000	0.67381	0.460000	0.39030	CTC		0.403	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		G	21919537	A	G	21919537	3	3	229	1	0	0	0	0	1	0	0	0	8056	304	11	4	883	4	KCNJ8	12	21919537	Missense_Mutation	SNP	A	TCGA-24-1463-01A-01W-0549-09	10957488	21919537	111932358	40	12982											
C12orf42	374470	genome.wustl.edu	37	12	103696127	103696127	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr12:103696127G>A	ENST00000378113.2	-	6	1067	c.842C>T	c.(841-843)gCg>gTg	p.A281V	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Missense_Mutation_p.A214V|C12orf42_ENST00000548883.1_Missense_Mutation_p.A281V	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	281								p.A281V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CATCTCCGGCGCCATGGCAAC	0.662																																																1	Substitution - Missense(1)	ovary(1)	12											43	50	47					12																	103696127		2009	4204	6213	102220257	SO:0001583	missense	374470			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.842C>T	12.37:g.103696127G>A	ENSP00000367353:p.Ala281Val		102220257	Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022696	0.75275	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.59224	0.28;0.28;0.28	5.14	4.04	0.47022	.	0.197895	0.25138	N	0.032859	T	0.60547	0.2277	L	0.29908	0.895	0.23585	N	0.997357	D	0.89917	1.0	P	0.62382	0.901	T	0.52734	-0.8536	10	0.52906	T	0.07	-5.4457	12.394	0.55374	0.1429:0.0:0.8571:0.0	.	281	Q96LP6	CL042_HUMAN	V	281;214;281	ENSP00000447908:A281V;ENSP00000449362:A214V;ENSP00000367353:A281V	ENSP00000367353:A281V	A	-	2	0	C12orf42	102220257	0.999000	0.42202	0.689000	0.30133	0.775000	0.43874	1.834000	0.39171	2.378000	0.81104	0.561000	0.74099	GCG		0.662	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		A	103696127	G	A	103696127	3	1	229	1	0	0	0	0	1	0	0	0	1688	1087	38	1	244	1	C12orf42	12	103696127	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	81776590	103696127	30155768	41	12983											
LRCH1	23143	genome.wustl.edu	37	13	47260084	47260084	+	Missense_Mutation	SNP	A	A	G	rs371417993		TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr13:47260084A>G	ENST00000389798.3	+	5	927	c.730A>G	c.(730-732)Aaa>Gaa	p.K244E	LRCH1_ENST00000311191.6_Missense_Mutation_p.K244E|LRCH1_ENST00000389797.3_Missense_Mutation_p.K244E	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	244								p.K244E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCCTGCAACAAAGTGCTCGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	13						A	GLU/LYS,GLU/LYS,GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	59	55	56		730,730,730	5.9	1	13		56	0,8600		0,0,4300	no	missense,missense,missense	LRCH1	NM_001164211.1,NM_001164213.1,NM_015116.2	56,56,56	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	244/764,244/697,244/729	47260084	1,13005	2203	4300	6503	46158085	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.730A>G	13.37:g.47260084A>G	ENSP00000374448:p.Lys244Glu		46158085	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951047	0.92660	2.27E-4	0.0	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.19105	2.17;2.17;2.17	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	M	0.68728	2.09	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;0.999;0.737	D;D;D;P	0.91635	0.993;0.999;0.997;0.545	T	0.32134	-0.9918	10	0.48119	T	0.1	-9.3079	15.5755	0.76380	1.0:0.0:0.0:0.0	.	244;244;244;244	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	E	244	ENSP00000308493:K244E;ENSP00000374448:K244E;ENSP00000374447:K244E	ENSP00000308493:K244E	K	+	1	0	LRCH1	46158085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.706000	0.91362	2.281000	0.76405	0.533000	0.62120	AAA		0.363	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		G	47260084	A	G	47260084	3	3	229	1	0	0	0	0	1	0	0	0	8932	131	5	4	748	4	LRCH1	13	47260084	Missense_Mutation	SNP	A	TCGA-24-1463-01A-01W-0549-09		47260084	67909794	42	12984											
RB1	5925	genome.wustl.edu	37	13	48955540	48955555	+	Frame_Shift_Del	DEL	ATGTGAACATCGAATC	ATGTGAACATCGAATC	-	rs121913304		TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	ATGTGAACATCGAATC	ATGTGAACATCGAATC	ATGTGAACATCGAATC	-	ATGTGAACATCGAATC	ATGTGAACATCGAATC	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr13:48955540_48955555delATGTGAACATCGAATC	ENST00000267163.4	+	17	1794_1809	c.1656_1671delATGTGAACATCGAATC	c.(1654-1671)cgatgtgaacatcgaatcfs	p.RCEHRI552fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R556*(5)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATTTAGAACGATGTGAACATCGAATCATGGAATCCC	0.329		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	29	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(5)|Deletion - Frameshift(1)	bone(11)|breast(5)|eye(4)|central_nervous_system(4)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	13	GRCh37	CD075538|CM942039|CM961230|CM961231	RB1	D|M	rs121913304																																			47853556	SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1656_1671delATGTGAACATCGAATC	13.37:g.48955540_48955555delATGTGAACATCGAATC	ENSP00000267163:p.Arg552fs		47853541	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.329	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48955555	ATGTGAACATCGAATC	-	48955540	7	5	229	1	0	1	0	1	0	0	0	0	13101	320	12	0	1722	0	RB1	13	48955540	Frame_Shift_Del	DEL	ATGTGAACATCGAATC	TCGA-24-1463-01A-01W-0549-09	1695456	48955540	66214338	43	12985											
ADCY9	115	genome.wustl.edu	37	16	4015908	4015908	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr16:4015908T>A	ENST00000294016.3	-	11	4468	c.3930A>T	c.(3928-3930)agA>agT	p.R1310S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1310					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.R1310S(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTTCCACGGTCTCTTGGGGG	0.537																																																1	Substitution - Missense(1)	ovary(1)	16											101	98	99					16																	4015908		2197	4300	6497	3955909	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3930A>T	16.37:g.4015908T>A	ENSP00000294016:p.Arg1310Ser		3955909	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530460	0.27387	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.66	-2.56	0.06268	.	0.250430	0.41500	D	0.000869	T	0.68796	0.3040	N	0.24115	0.695	0.23293	N	0.997964	B	0.17465	0.022	B	0.11329	0.006	T	0.59139	-0.7510	10	0.54805	T	0.06	.	12.2958	0.54844	0.0:0.7194:0.1284:0.1522	.	1310	O60503	ADCY9_HUMAN	S	1310	ENSP00000294016:R1310S	ENSP00000294016:R1310S	R	-	3	2	ADCY9	3955909	0.783000	0.28701	0.980000	0.43619	0.348000	0.29142	-0.199000	0.09491	-0.300000	0.08895	0.528000	0.53228	AGA		0.537	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4015908	T	A	4015908	3	1	229	1	0	0	0	0	1	0	0	0	301	1664	58	5	135	5	ADCY9	16	4015908	Missense_Mutation	SNP	T	TCGA-24-1463-01A-01W-0549-09		4015908	86338845	44	12986											
DNAH3	55567	genome.wustl.edu	37	16	20974702	20974702	+	Nonsense_Mutation	SNP	C	C	A	rs200676672		TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr16:20974702C>A	ENST00000261383.3	-	53	10503	c.10504G>T	c.(10504-10506)Gaa>Taa	p.E3502*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3502	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E3502*(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTAGGGGCTTCGATATACAGC	0.498																																																1	Substitution - Nonsense(1)	ovary(1)	16											108	99	102					16																	20974702		2201	4300	6501	20882203	SO:0001587	stop_gained	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10504G>T	16.37:g.20974702C>A	ENSP00000261383:p.Glu3502*		20882203	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	50	17.135547	0.99880	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3211	0.94240	0.0:1.0:0.0:0.0	.	.	.	.	X	3502	.	ENSP00000261383:E3502X	E	-	1	0	DNAH3	20882203	0.998000	0.40836	0.918000	0.36340	0.318000	0.28184	3.978000	0.56881	2.565000	0.86533	0.655000	0.94253	GAA		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	20974702	C	A	20974702	4	1	229	1	0	0	0	0	0	1	0	0	4603	893	31	3	1885	3	DNAH3	16	20974702	Nonsense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	16958794	20974702	69380051	45	12987											
SCNN1B	6338	genome.wustl.edu	37	16	23388515	23388515	+	Missense_Mutation	SNP	G	G	A	rs201330438		TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr16:23388515G>A	ENST00000343070.2	+	9	1476	c.1300G>A	c.(1300-1302)Gtg>Atg	p.V434M	SCNN1B_ENST00000568923.1_Missense_Mutation_p.V407M|SCNN1B_ENST00000307331.5_Missense_Mutation_p.V479M|SCNN1B_ENST00000568085.1_Missense_Mutation_p.V398M	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	434			V -> M. {ECO:0000269|PubMed:9674649}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.V434M(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACAGATGAGCGTGGCGCAGAG	0.607													g|||	1	0.000199681	0	0	5008	,	,		18330	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	16						G	MET/VAL	1,4393	2.1+/-5.4	0,1,2196	58	53	55		1300	-7.6	0	16		55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SCNN1B	NM_000336.2	21	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	benign	434/641	23388515	2,12992	2197	4300	6497	23296016	SO:0001583	missense	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1300G>A	16.37:g.23388515G>A	ENSP00000345751:p.Val434Met		23296016	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	CCDS10609.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.78	2.041362	0.35989	2.28E-4	1.16E-4	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.63913	-0.07;-0.07	4.73	-7.6	0.01303	.	1.463560	0.04347	N	0.355023	T	0.48978	0.1530	L	0.48362	1.52	0.09310	N	1	B	0.28584	0.216	B	0.28709	0.093	T	0.50030	-0.8875	10	0.62326	D	0.03	-15.2947	5.6158	0.17430	0.1796:0.5018:0.222:0.0966	.	434	P51168	SCNNB_HUMAN	M	434;479	ENSP00000345751:V434M;ENSP00000302874:V479M	ENSP00000302874:V479M	V	+	1	0	SCNN1B	23296016	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	-0.344000	0.07780	-0.982000	0.03515	-0.498000	0.04607	GTG		0.607	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			A	23388515	G	A	23388515	3	1	229	1	0	0	0	0	1	0	0	0	13931	1145	40	1	1330	1	SCNN1B	16	23388515	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	2413813	23388515	66966238	46	12988											
RPGRIP1L	23322	genome.wustl.edu	37	16	53692358	53692358	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr16:53692358C>G	ENST00000379925.3	-	12	1419	c.1369G>C	c.(1369-1371)Gat>Cat	p.D457H	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D457H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D457H|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.D457H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	457					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.D457H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTCAATTCATCAGCATTAATA	0.343																																																1	Substitution - Missense(1)	ovary(1)	16											100	93	95					16																	53692358		2197	4299	6496	52249859	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1369G>C	16.37:g.53692358C>G	ENSP00000369257:p.Asp457His		52249859	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247205	0.39697	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;D	0.90324	-0.18;-2.65	5.71	3.52	0.40303	.	0.326939	0.35708	N	0.003037	D	0.82600	0.5072	N	0.08118	0	0.80722	D	1	B;B;B;P	0.44380	0.016;0.009;0.016;0.834	B;B;B;P	0.47102	0.014;0.014;0.014;0.537	T	0.81382	-0.0958	10	0.36615	T	0.2	-11.9901	10.5827	0.45265	0.1375:0.7828:0.0:0.0797	.	457;457;457;457	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	H	457	ENSP00000369257:D457H;ENSP00000262135:D457H	ENSP00000262135:D457H	D	-	1	0	RPGRIP1L	52249859	0.999000	0.42202	1.000000	0.80357	0.844000	0.47949	1.746000	0.38288	2.691000	0.91804	0.650000	0.86243	GAT		0.343	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		G	53692358	C	G	53692358	3	3	229	1	0	0	0	0	1	0	0	0	13553	826	29	3	2642	3	RPGRIP1L	16	53692358	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	30303843	53692358	36662395	47	12989											
IRX3	79191	genome.wustl.edu	37	16	54319105	54319105	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr16:54319105C>G	ENST00000329734.3	-	2	1400	c.688G>C	c.(688-690)Gag>Cag	p.E230Q		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	230	Asp/Glu-rich (acidic).|Poly-Glu.				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E230Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						agctcctcctcctccAGCTCT	0.657																																					GBM(143;1830 1866 4487 4646 37383)											1	Substitution - Missense(1)	ovary(1)	16											54	34	41					16																	54319105		2197	4297	6494	52876606	SO:0001583	missense	79191			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.688G>C	16.37:g.54319105C>G	ENSP00000331608:p.Glu230Gln		52876606	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767050	0.31320	.	.	ENSG00000177508	ENST00000329734	T	0.53423	0.62	4.31	4.31	0.51392	.	0.130459	0.49305	D	0.000146	T	0.52191	0.1719	L	0.36672	1.1	0.28338	N	0.921476	D	0.63880	0.993	D	0.70227	0.968	T	0.41448	-0.9508	10	0.33141	T	0.24	-11.7002	8.0142	0.30372	0.0:0.8902:0.0:0.1098	.	230	P78415	IRX3_HUMAN	Q	230	ENSP00000331608:E230Q	ENSP00000331608:E230Q	E	-	1	0	IRX3	52876606	0.980000	0.34600	1.000000	0.80357	0.207000	0.24258	2.417000	0.44653	2.225000	0.72522	0.462000	0.41574	GAG		0.657	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			G	54319105	C	G	54319105	3	3	229	1	0	0	0	0	1	0	0	0	7845	864	30	3	829	3	IRX3	16	54319105	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	626747	54319105	36035648	48	12990											
P2RX1	5023	genome.wustl.edu	37	17	3801133	3801133	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	A	A	C	C	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr17:3801133A>C	ENST00000225538.3	-	12	1449	c.1175T>G	c.(1174-1176)cTg>cGg	p.L392R		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	392					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.L392R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GTTCTCCTGCAGGCCCAGGGT	0.642																																																1	Substitution - Missense(1)	ovary(1)	17											88	78	81					17																	3801133		2203	4300	6503	3747882	SO:0001583	missense	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.1175T>G	17.37:g.3801133A>C	ENSP00000225538:p.Leu392Arg		3747882	Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912580	0.52439	.	.	ENSG00000108405	ENST00000225538	T	0.05139	3.49	4.08	4.08	0.47627	.	0.120788	0.33401	N	0.004942	T	0.13030	0.0316	L	0.36672	1.1	0.36655	D	0.877605	D	0.69078	0.997	D	0.63488	0.915	T	0.04347	-1.0958	10	0.66056	D	0.02	-24.5607	9.739	0.40406	1.0:0.0:0.0:0.0	.	392	P51575	P2RX1_HUMAN	R	392	ENSP00000225538:L392R	ENSP00000225538:L392R	L	-	2	0	P2RX1	3747882	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	4.254000	0.58798	2.076000	0.62316	0.397000	0.26171	CTG		0.642	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		C	3801133	A	C	3801133	3	2	229	1	0	0	0	0	1	0	0	0	11339	188	7	5	28	5	P2RX1	17	3801133	Missense_Mutation	SNP	A	TCGA-24-1463-01A-01W-0549-09		3801133	77394077	49	12991											
TP53	7157	genome.wustl.edu	37	17	7577117	7577117	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr17:7577117A>T	ENST00000269305.4	-	8	1010	c.821T>A	c.(820-822)gTt>gAt	p.V274D	TP53_ENST00000420246.2_Missense_Mutation_p.V274D|TP53_ENST00000455263.2_Missense_Mutation_p.V274D|TP53_ENST00000445888.2_Missense_Mutation_p.V274D|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V274D|TP53_ENST00000574684.1_5'Flank	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	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(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)	ACAGGCACAAACACGCACCTC	0.552		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"	52	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(1)	breast(8)|upper_aerodigestive_tract(6)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|stomach(1)|soft_tissue(1)|endometrium(1)|skin(1)|oesophagus(1)|pancreas(1)	17											70	60	64					17																	7577117		2203	4300	6503	7517842	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.821T>A	17.37:g.7577117A>T	ENSP00000269305:p.Val274Asp		7517842	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	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391827	0.83011	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	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);	0.312804	0.33382	N	0.004980	D	0.99802	0.9915	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.997;0.992;0.998;0.996	D	0.96852	0.9626	10	0.87932	D	0	-10.2267	12.5624	0.56288	1.0:0.0:0.0:0.0	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	D	274;274;274;274;274;263;142	ENSP00000352610:V274D;ENSP00000269305:V274D;ENSP00000398846:V274D;ENSP00000391127:V274D;ENSP00000391478:V274D;ENSP00000425104:V142D	ENSP00000269305:V274D	V	-	2	0	TP53	7517842	0.970000	0.33590	0.681000	0.30009	0.775000	0.43874	9.060000	0.93907	2.067000	0.61834	0.379000	0.24179	GTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577117	A	T	7577117	3	4	229	1	0	0	0	0	1	0	0	0	16381	43	2	5	465	5	TP53	17	7577117	Missense_Mutation	SNP	A	TCGA-24-1463-01A-01W-0549-09	3775984	7577117	73618093	50	12992											
CYTSB	92521	genome.wustl.edu	37	17	20107754	20107754	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr17:20107754C>T	ENST00000261503.5	+	4	443	c.392C>T	c.(391-393)tCa>tTa	p.S131L	SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_5'Flank|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.S131L|SPECC1_ENST00000395530.2_Missense_Mutation_p.S50L|SPECC1_ENST00000395525.3_Missense_Mutation_p.S50L|SPECC1_ENST00000395527.4_Missense_Mutation_p.S131L|SPECC1_ENST00000395522.2_Missense_Mutation_p.S50L	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	131					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.S131L(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCCAGGAAATCAGTGTCCAGT	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											177	179	179					17																	20107754		2203	4300	6503	20048346	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.392C>T	17.37:g.20107754C>T	ENSP00000261503:p.Ser131Leu		20048346	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	2.259	-0.369772	0.05069	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.64085	-0.08;2.9;2.93;2.93	4.73	0.335	0.15953	.	0.680494	0.15413	N	0.263650	T	0.36413	0.0966	N	0.21448	0.665	0.09310	N	1	B;B;B;B	0.11235	0.004;0.004;0.004;0.001	B;B;B;B	0.13407	0.009;0.009;0.009;0.003	T	0.27191	-1.0081	10	0.02654	T	1	-0.011	5.3885	0.16231	0.0:0.5802:0.1482:0.2716	.	50;50;131;131	Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;CYTSB_HUMAN	L	131;131;131;50;50;50	ENSP00000261503:S131L;ENSP00000378900:S131L;ENSP00000378893:S50L;ENSP00000378896:S50L	ENSP00000261503:S131L	S	+	2	0	SPECC1	20048346	0.006000	0.16342	0.000000	0.03702	0.650000	0.38633	1.783000	0.38664	0.012000	0.14892	0.591000	0.81541	TCA		0.517	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		T	20107754	C	T	20107754	3	4	229	1	0	0	0	0	1	0	0	0	4210	838	29	2	446	2	CYTSB	17	20107754	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	12530637	20107754	61087456	51	12993											
NF1	4763	genome.wustl.edu	37	17	29486075	29486093	+	Frame_Shift_Del	DEL	GATTATATTGGATACACTG	GATTATATTGGATACACTG	-			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	GATTATATTGGATACACTG	GATTATATTGGATACACTG	GATTATATTGGATACACTG	-	GATTATATTGGATACACTG	GATTATATTGGATACACTG	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr17:29486075_29486093delGATTATATTGGATACACTG	ENST00000358273.4	+	3	635_653	c.252_270delGATTATATTGGATACACTG	c.(250-270)ttgattatattggatacactgfs	p.LIILDTL84fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.LIILDTL84fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.LIILDTL84fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	84					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.I85fs*12(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTCTCAGTTGATTATATTGGATACACTGGAAAAATGTC	0.338			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|ovary(1)	17	GRCh37	CD020576|CM073225	NF1	D|M																																				26510219	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.252_270delGATTATATTGGATACACTG	17.37:g.29486075_29486093delGATTATATTGGATACACTG	ENSP00000351015:p.Leu84fs		26510201	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29486093	GATTATATTGGATACACTG	-	29486075	7	5	229	1	0	1	0	1	0	0	0	0	10356	1281	45	0	262	0	NF1	17	29486075	Frame_Shift_Del	DEL	GATTATATTGGATACACTG	TCGA-24-1463-01A-01W-0549-09	9378321	29486075	51709135	52	12994											
ACACA	31	genome.wustl.edu	37	17	35454849	35454849	+	Silent	SNP	T	T	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr17:35454849T>C	ENST00000394406.2	-	53	6715	c.6525A>G	c.(6523-6525)ctA>ctG	p.L2175L	ACACA_ENST00000361253.5_Silent_p.L301L|ACACA_ENST00000353139.5_Silent_p.L2212L|ACACA_ENST00000360679.3_Silent_p.L2117L|ACACA_ENST00000335166.5_Silent_p.L2097L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2175	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L2117L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AAATGGGAATTAGGAATTCCT	0.507																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											1	Substitution - coding silent(1)	ovary(1)	17											168	147	154					17																	35454849		2203	4300	6503	32528962	SO:0001819	synonymous_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6525A>G	17.37:g.35454849T>C			32528962	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	CCDS11317.1																																																																																				0.507	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		C	35454849	T	C	35454849	2	2	229	1	0	0	0	0	0	0	0	1	106	1741	61	4		4	ACACA	17	35454849	Silent	SNP	T	TCGA-24-1463-01A-01W-0549-09	5968774	35454849	45740361	53	12995											
EPX	8288	genome.wustl.edu	37	17	56280666	56280666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr17:56280666C>T	ENST00000225371.5	+	11	2043	c.1933C>T	c.(1933-1935)Cga>Tga	p.R645*		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	645				RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence). {ECO:0000305}.	defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R645*(1)|p.R645R(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CAGAAGAGCCCGAGACGGAGA	0.507																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	ovary(1)|endometrium(1)	17											45	49	48					17																	56280666		2203	4300	6503	53635665	SO:0001587	stop_gained	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1933C>T	17.37:g.56280666C>T	ENSP00000225371:p.Arg645*		53635665	Q4TVP3	Nonsense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	38	6.773164	0.97829	.	.	ENSG00000121053	ENST00000225371	.	.	.	5.7	2.25	0.28309	.	0.162323	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2542	9.5962	0.39576	0.2611:0.6626:0.0:0.0762	.	.	.	.	X	645	.	ENSP00000225371:R645X	R	+	1	2	EPX	53635665	0.773000	0.28580	0.494000	0.27515	0.976000	0.68499	1.577000	0.36515	0.737000	0.32582	0.655000	0.94253	CGA		0.507	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		T	56280666	C	T	56280666	4	4	229	1	0	0	0	0	0	1	0	0	5200	644	23	1	1975	1	EPX	17	56280666	Nonsense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	20825817	56280666	24914544	54	12996											
DDX5	1655	genome.wustl.edu	37	17	62496288	62496288	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr17:62496288C>G	ENST00000225792.5	-	13	1999	c.1598G>C	c.(1597-1599)gGt>gCt	p.G533A	DDX5_ENST00000450599.2_Missense_Mutation_p.G454A|MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.G533A	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	533	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)	p.G533A(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ACTGTAAACACCATTCTGAGT	0.413			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	1	Substitution - Missense(1)	ovary(1)	17											139	143	142					17																	62496288		2203	4300	6503	59926750	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1598G>C	17.37:g.62496288C>G	ENSP00000225792:p.Gly533Ala		59926750	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454269	0.26161	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.86	5.86	0.93980	.	0.262657	0.45126	D	0.000386	T	0.52141	0.1716	L	0.27053	0.805	0.80722	D	1	B;B;B	0.19583	0.037;0.037;0.037	B;B;B	0.14023	0.01;0.004;0.004	T	0.41610	-0.9499	9	0.22109	T	0.4	-6.9894	20.2509	0.98409	0.0:1.0:0.0:0.0	.	454;533;533	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	A	533;463;522	.	ENSP00000225792:G522A	G	-	2	0	DDX5	59926750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.486000	0.66856	2.788000	0.95919	0.586000	0.80456	GGT		0.413	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		G	62496288	C	G	62496288	3	3	229	1	0	0	0	0	1	0	0	0	4367	507	18	3	250	3	DDX5	17	62496288	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	6215622	62496288	18698922	55	12997											
COL5A3	50509	genome.wustl.edu	37	19	10071135	10071135	+	Silent	SNP	C	C	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr19:10071135C>T	ENST00000264828.3	-	67	5275	c.5190G>A	c.(5188-5190)acG>acA	p.T1730T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1730	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.T1730T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACTTTTGGTTCGTCTGGCCAA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	19											64	69	67					19																	10071135		2203	4300	6503	9932135	SO:0001819	synonymous_variant	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5190G>A	19.37:g.10071135C>T			9932135	Q9NZQ6	Silent	SNP	ENST00000264828.3	37	CCDS12222.1																																																																																				0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10071135	C	T	10071135	2	4	229	1	0	0	0	0	0	0	0	1	3698	871	31	1		1	COL5A3	19	10071135	Silent	SNP	C	TCGA-24-1463-01A-01W-0549-09		10071135	49057848	56	12998											
ZNF606	80095	genome.wustl.edu	37	19	58489968	58489968	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr19:58489968G>A	ENST00000341164.4	-	7	2700	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.H604Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	694					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H694N(2)|p.H694Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCAATGAGGTGAGAACTACAG	0.418																																																3	Substitution - Missense(3)	NS(2)|ovary(1)	19											96	95	95					19																	58489968		2203	4300	6503	63181780	SO:0001583	missense	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2080C>T	19.37:g.58489968G>A	ENSP00000343617:p.His694Tyr		63181780	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	0.619	-0.821997	0.02755	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.13089	2.62;2.62	4.43	3.3	0.37823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000220	T	0.10594	0.0259	N	0.03177	-0.4	0.26869	N	0.967791	D	0.64830	0.994	P	0.55545	0.778	T	0.28870	-1.0030	10	0.20519	T	0.43	.	13.2335	0.59957	0.0:0.0:0.8405:0.1595	.	694	Q8WXB4	ZN606_HUMAN	Y	694;604	ENSP00000343617:H694Y;ENSP00000445624:H604Y	ENSP00000343617:H694Y	H	-	1	0	ZNF606	63181780	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.573000	0.05874	2.427000	0.82271	0.561000	0.74099	CAC		0.418	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		A	58489968	G	A	58489968	3	1	229	1	0	0	0	0	1	0	0	0	18032	1290	45	2	302	2	ZNF606	19	58489968	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	48418833	58489968	639015	57	12999											
ZNF341	84905	genome.wustl.edu	37	20	32354838	32354838	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr20:32354838G>C	ENST00000375200.1	+	9	1769	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	ZNF341_ENST00000342427.2_Missense_Mutation_p.K461N	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K461N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCAGCATAAGAATGAGCAGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											150	142	144					20																	32354838		2203	4300	6503	31818499	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1404G>C	20.37:g.32354838G>C	ENSP00000364346:p.Lys468Asn		31818499	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37		.	.	.	.	.	.	.	.	.	.	G	16.58	3.162851	0.57368	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.60299	0.2;0.2	4.98	2.98	0.34508	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	N	0.10945	0.07	0.50171	D	0.99985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.58222	-0.7674	10	0.66056	D	0.02	-22.6076	9.4285	0.38595	0.2409:0.0:0.7591:0.0	.	409;468;461	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	N	461;468	ENSP00000344308:K461N;ENSP00000364346:K468N	ENSP00000344308:K461N	K	+	3	2	ZNF341	31818499	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	1.933000	0.40153	0.579000	0.29504	-0.448000	0.05591	AAG		0.547	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				C	32354838	G	C	32354838	3	2	229	1	0	0	0	0	1	0	0	0	17857	933	33	3	1417	3	ZNF341	20	32354838	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09		32354838	30670682	58	13000											
LPIN3	64900	genome.wustl.edu	37	20	39978941	39978941	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr20:39978941G>T	ENST00000373257.3	+	7	1097	c.1006G>T	c.(1006-1008)Gac>Tac	p.D336Y		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	336					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.D336Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GAGCTCTGGGGACATGGGCCT	0.627																																																1	Substitution - Missense(1)	ovary(1)	20											36	39	38					20																	39978941		2203	4300	6503	39412355	SO:0001583	missense	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1006G>T	20.37:g.39978941G>T	ENSP00000362354:p.Asp336Tyr		39412355	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670518	0.29693	.	.	ENSG00000132793	ENST00000373257	T	0.80824	-1.42	4.9	2.93	0.34026	.	1.137520	0.06344	N	0.708539	T	0.78672	0.4320	L	0.44542	1.39	0.09310	N	1	P;P	0.52842	0.674;0.956	B;P	0.50231	0.381;0.635	T	0.63659	-0.6587	9	.	.	.	-1.8838	3.9743	0.09467	0.091:0.1729:0.5767:0.1594	.	337;336	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	Y	336	ENSP00000362354:D336Y	.	D	+	1	0	LPIN3	39412355	0.063000	0.20901	0.001000	0.08648	0.007000	0.05969	0.880000	0.28159	0.725000	0.32318	0.561000	0.74099	GAC		0.627	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		T	39978941	G	T	39978941	3	4	229	1	0	0	0	0	1	0	0	0	8920	1174	41	3	1028	3	LPIN3	20	39978941	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09	7624103	39978941	23046579	59	13001											
DIDO1	11083	genome.wustl.edu	37	20	61538627	61538627	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr20:61538627C>T	ENST00000266070.4	-	5	1571	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	DIDO1_ENST00000354665.4_Missense_Mutation_p.D416N|DIDO1_ENST00000395343.1_Missense_Mutation_p.D416N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D416N|DIDO1_ENST00000370371.4_Missense_Mutation_p.D416N|DIDO1_ENST00000266071.5_Missense_Mutation_p.D416N|DIDO1_ENST00000370366.1_Missense_Mutation_p.D416N|DIDO1_ENST00000395340.1_Missense_Mutation_p.D416N|DIDO1_ENST00000370368.1_Missense_Mutation_p.D416N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	416					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D416N(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGATACAGTCATTACTGCAG	0.502																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											1	Substitution - Missense(1)	ovary(1)	20											196	193	194					20																	61538627		2203	4300	6503	61009072	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1246G>A	20.37:g.61538627C>T	ENSP00000266070:p.Asp416Asn		61009072	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317788	0.95682	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.25250	2.71;2.71;2.37;2.37;1.81;1.81;1.81;1.83;1.83	4.96	4.96	0.65561	.	0.000000	0.44902	D	0.000402	T	0.53367	0.1792	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.65815	0.995;0.995;0.992;0.981	P;D;P;P	0.64687	0.888;0.928;0.891;0.494	T	0.58769	-0.7578	10	0.59425	D	0.04	-32.892	18.5732	0.91144	0.0:1.0:0.0:0.0	.	416;416;416;416	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	N	416	ENSP00000266070:D416N;ENSP00000378752:D416N;ENSP00000378749:D416N;ENSP00000378744:D416N;ENSP00000359397:D416N;ENSP00000359394:D416N;ENSP00000346692:D416N;ENSP00000359391:D416N;ENSP00000266071:D416N	ENSP00000266070:D416N	D	-	1	0	DIDO1	61009072	1.000000	0.71417	0.741000	0.31004	0.602000	0.36980	7.666000	0.83877	2.472000	0.83506	0.561000	0.74099	GAC		0.502	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61538627	C	T	61538627	3	4	229	1	0	0	0	0	1	0	0	0	4522	826	29	2	5654	2	DIDO1	20	61538627	Missense_Mutation	SNP	C	TCGA-24-1463-01A-01W-0549-09	21559686	61538627	1486893	60	13002											
ZNRF3	84133	genome.wustl.edu	37	22	29445294	29445294	+	Silent	SNP	C	C	G			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chr22:29445294C>G	ENST00000544604.2	+	8	1300	c.1125C>G	c.(1123-1125)acC>acG	p.T375T	ZNRF3_ENST00000332811.4_Silent_p.T275T|ZNRF3_ENST00000406323.3_Silent_p.T275T|ZNRF3_ENST00000402174.1_Silent_p.T275T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	375					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T275T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TGCACAGGACCAACGCCATCC	0.642																																																1	Substitution - coding silent(1)	ovary(1)	22											66	75	72					22																	29445294		2188	4275	6463	27775294	SO:0001819	synonymous_variant	84133			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1125C>G	22.37:g.29445294C>G			27775294	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	CCDS56225.1																																																																																				0.642	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		G	29445294	C	G	29445294	2	3	229	1	0	0	0	0	0	0	0	1	18213	581	21	3		3	ZNRF3	22	29445294	Silent	SNP	C	TCGA-24-1463-01A-01W-0549-09		29445294	21859272	61	13003											
TKTL1	8277	genome.wustl.edu	37	X	153543601	153543601	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1463-01A-01W-0549-09	TCGA-24-1463-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c01ca9e7-ee9b-4698-8e4d-920ad7bfbe5f	5a9ad498-1cf3-4777-8e89-3d27d0c2b64c	g.chrX:153543601G>A	ENST00000369915.3	+	7	1132	c.943G>A	c.(943-945)Gac>Aac	p.D315N	TKTL1_ENST00000217905.7_Missense_Mutation_p.D55N|TKTL1_ENST00000369912.2_Missense_Mutation_p.D259N	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	315					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.D315N(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGATGGTGACACCAGGTA	0.493																																																1	Substitution - Missense(1)	ovary(1)	X											195	152	166					X																	153543601		2203	4300	6503	153196795	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.943G>A	X.37:g.153543601G>A	ENSP00000358931:p.Asp315Asn		153196795	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456995	0.63401	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.96716	-4.1;-4.1;-4.1	4.1	4.1	0.47936	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99544	1.0964	10	0.87932	D	0	-35.208	14.3768	0.66884	0.0:0.0:1.0:0.0	.	55;309;315	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	N	315;259;55;259	ENSP00000358931:D315N;ENSP00000217905:D55N;ENSP00000358928:D259N	ENSP00000217905:D55N	D	+	1	0	TKTL1	153196795	1.000000	0.71417	0.998000	0.56505	0.076000	0.17211	9.232000	0.95325	1.882000	0.54519	0.292000	0.19580	GAC		0.493	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		A	153543601	G	A	153543601	3	1	229	1	0	0	0	0	1	0	0	0	15935	1290	45	2	969	2	TKTL1	23	153543601	Missense_Mutation	SNP	G	TCGA-24-1463-01A-01W-0549-09		153543601	1726959	62	13004											
CHD5	26038	genome.wustl.edu	37	1	6206923	6206924	+	Frame_Shift_Ins	INS	-	-	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr1:6206923_6206924insG	ENST00000262450.3	-	10	1490_1491	c.1391_1392insC	c.(1390-1392)ccafs	p.P464fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L465fs*28(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCCCTTCAGTGGGGGGCACTG	0.683																																																1	Insertion - Frameshift(1)	ovary(1)	1																																								6129511	SO:0001589	frameshift_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1392dupC	1.37:g.6206929_6206929dupG	ENSP00000262450:p.Pro464fs		6129510	A8KAP8|A8MQ44|D3DSH9|O60740	Frame_Shift_Ins	INS	ENST00000262450.3	37	CCDS57.1																																																																																				0.683	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		G	6206924	-	G	6206923	7	5	230	1	0	1	1	0	0	0	0	0	3328	1683	59	0	4600	0	CHD5	1	6206923	Frame_Shift_Ins	INS	-	TCGA-24-1464-01A-01W-0549-09		6206923	243043698	1	13005											
ACTL8	81569	genome.wustl.edu	37	1	18153008	18153008	+	Silent	SNP	G	G	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr1:18153008G>A	ENST00000375406.1	+	3	1311	c.1095G>A	c.(1093-1095)agG>agA	p.R365R		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	365					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R365R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		AGCATATGAGGATGTGACCCT	0.512											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	1											44	47	46					1																	18153008		2157	4256	6413	18025595	SO:0001819	synonymous_variant	81569			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.1095G>A	1.37:g.18153008G>A		723	18025595	Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	CCDS183.1																																																																																				0.512	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		A	18153008	G	A	18153008	2	1	230	1	0	0	0	0	0	0	0	1	202	1165	41	2		2	ACTL8	1	18153008	Silent	SNP	G	TCGA-24-1464-01A-01W-0549-09	11946085	18153008	231097613	2	13006											
IVNS1ABP	10625	genome.wustl.edu	37	1	185267296	185267296	+	Silent	SNP	C	C	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr1:185267296C>G	ENST00000367498.3	-	15	2422	c.1800G>C	c.(1798-1800)ggG>ggC	p.G600G	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.G382G	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	600					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.G600G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CAGTTGCAATCCCAGCATTGC	0.413																																																1	Substitution - coding silent(1)	ovary(1)	1											305	269	281					1																	185267296		2203	4300	6503	183533919	SO:0001819	synonymous_variant	10625			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1800G>C	1.37:g.185267296C>G			183533919	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Silent	SNP	ENST00000367498.3	37	CCDS1368.1																																																																																				0.413	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		G	185267296	C	G	185267296	2	3	230	1	0	0	0	0	0	0	0	1	7930	842	30	3		3	IVNS1ABP	1	185267296	Silent	SNP	C	TCGA-24-1464-01A-01W-0549-09	167114288	185267296	63983325	3	13007											
ARID4B	51742	genome.wustl.edu	37	1	235344929	235344929	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr1:235344929T>C	ENST00000264183.3	-	20	3802	c.3305A>G	c.(3304-3306)aAt>aGt	p.N1102S	ARID4B_ENST00000366603.2_Missense_Mutation_p.N1102S|ARID4B_ENST00000349213.3_Missense_Mutation_p.N1016S|ARID4B_ENST00000494543.1_5'UTR	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1102					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N1102S(2)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTCTGGCTGATTACTACTGCT	0.443																																																2	Substitution - Missense(2)	ovary(2)	1											126	125	125					1																	235344929		2203	4300	6503	233411552	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3305A>G	1.37:g.235344929T>C	ENSP00000264183:p.Asn1102Ser		233411552	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.381|1.381	-0.583494|-0.583494	0.03827|0.03827	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|T;T;T	.|0.18657	.|2.21;2.2;2.2	5.17|5.17	2.66|2.66	0.31614|0.31614	.|.	.|0.362723	.|0.30704	.|N	.|0.009048	T|T	0.09335|0.09335	0.0230|0.0230	N|N	0.11427|0.11427	0.14|0.14	0.37998|0.37998	D|D	0.93414|0.93414	.|B;B;B;B	.|0.17268	.|0.016;0.021;0.01;0.012	.|B;B;B;B	.|0.21151	.|0.021;0.033;0.033;0.018	T|T	0.21348|0.21348	-1.0248|-1.0248	5|10	.|0.02654	.|T	.|1	-10.81|-10.81	11.5909|11.5909	0.50945|0.50945	0.0:0.0:0.2828:0.7172|0.0:0.0:0.2828:0.7172	.|.	.|783;1102;1016;1102	.|Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.|.;.;.;ARI4B_HUMAN	V|S	502|1102;1016;1102;1102	.|ENSP00000264184:N1016S;ENSP00000355562:N1102S;ENSP00000264183:N1102S	.|ENSP00000264183:N1102S	I|N	-|-	1|2	0|0	ARID4B|ARID4B	233411552|233411552	0.987000|0.987000	0.35691|0.35691	0.977000|0.977000	0.42913|0.42913	0.986000|0.986000	0.74619|0.74619	0.559000|0.559000	0.23485|0.23485	0.789000|0.789000	0.33779|0.33779	0.477000|0.477000	0.44152|0.44152	ATC|AAT		0.443	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		C	235344929	T	C	235344929	3	2	230	1	0	0	0	0	1	0	0	0	920	1493	52	4	653	4	ARID4B	1	235344929	Missense_Mutation	SNP	T	TCGA-24-1464-01A-01W-0549-09	50077633	235344929	13905692	4	13008											
KMO	8564	genome.wustl.edu	37	1	241753389	241753389	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr1:241753389T>G	ENST00000366559.4	+	13	1485	c.1174T>G	c.(1174-1176)Tcg>Gcg	p.S392A	KMO_ENST00000366557.4_Intron|KMO_ENST00000366558.3_Missense_Mutation_p.S379A	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.S392A(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GATTATGCCATCGACCTTTAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	1											147	141	143					1																	241753389		2203	4300	6503	239820012	SO:0001583	missense	8564			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.1174T>G	1.37:g.241753389T>G	ENSP00000355517:p.Ser392Ala		239820012		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.631|8.631	0.893784|0.893784	0.17613|0.17613	.|.	.|.	ENSG00000117009|ENSG00000117009	ENST00000366555|ENST00000366559;ENST00000366558	.|T;T	.|0.46063	.|0.88;0.97	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.231036	.|0.42294	.|D	.|0.000723	T|T	0.40015|0.40015	0.1100|0.1100	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.44241	.|0.737;0.731;0.829	.|B;B;B	.|0.38264	.|0.138;0.184;0.269	T|T	0.30621|0.30621	-0.9972|-0.9972	5|10	.|0.25751	.|T	.|0.34	.|.	12.6339|12.6339	0.56673|0.56673	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|392;392;379	.|O15229;A8K693;O15229-2	.|KMO_HUMAN;.;.	S|A	77|392;379	.|ENSP00000355517:S392A;ENSP00000355516:S379A	.|ENSP00000355516:S379A	I|S	+|+	2|1	0|0	KMO|KMO	239820012|239820012	0.926000|0.926000	0.31397|0.31397	0.869000|0.869000	0.34112|0.34112	0.008000|0.008000	0.06430|0.06430	3.132000|3.132000	0.50523|0.50523	2.234000|2.234000	0.73211|0.73211	0.533000|0.533000	0.62120|0.62120	ATC|TCG		0.368	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		G	241753389	T	G	241753389	3	3	230	1	0	0	0	0	1	0	0	0	8424	1435	50	5	1224	5	KMO	1	241753389	Missense_Mutation	SNP	T	TCGA-24-1464-01A-01W-0549-09	6408460	241753389	7497232	5	13009											
MSH6	2956	genome.wustl.edu	37	2	48028254	48028254	+	Nonsense_Mutation	SNP	C	C	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr2:48028254C>G	ENST00000234420.5	+	4	3284	c.3132C>G	c.(3130-3132)taC>taG	p.Y1044*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.Y914*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.Y742*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1044					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.Y1044*(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAAAAATTACAAGGACTGGC	0.418			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	3	Whole gene deletion(2)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	2											66	67	67					2																	48028254		2203	4298	6501	47881758	SO:0001587	stop_gained	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3132C>G	2.37:g.48028254C>G	ENSP00000234420:p.Tyr1044*		47881758	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	44	11.208920	0.99531	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.08	2.26	0.28386	.	0.186574	0.48286	D	0.000181	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5792	10.1943	0.43045	0.0:0.781:0.0:0.219	.	.	.	.	X	1044;1042;12;914;742	.	ENSP00000234420:Y1044X	Y	+	3	2	MSH6	47881758	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.604000	0.46274	0.729000	0.32403	0.462000	0.41574	TAC		0.418	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		G	48028254	C	G	48028254	4	3	230	1	0	0	0	0	0	1	0	0	9874	489	17	3	3146	3	MSH6	2	48028254	Nonsense_Mutation	SNP	C	TCGA-24-1464-01A-01W-0549-09		48028254	195171119	6	13010											
FHL2	2274	genome.wustl.edu	37	2	105990124	105990124	+	Silent	SNP	G	G	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr2:105990124G>A	ENST00000409807.1	-	3	557	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	FHL2_ENST00000408995.1_Silent_p.L75L|FHL2_ENST00000393352.3_Silent_p.L75L|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000336660.5_Intron|AC012360.6_ENST00000415627.1_RNA|FHL2_ENST00000358129.4_Silent_p.L75L|FHL2_ENST00000393353.3_Silent_p.L75L|FHL2_ENST00000409177.1_Silent_p.L191L|FHL2_ENST00000322142.8_Silent_p.L75L|FHL2_ENST00000344213.4_Silent_p.L185L			Q14192	FHL2_HUMAN	four and a half LIM domains 2	75	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L75L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TTGTCCACCAGTGAGTTTCTG	0.542																																																1	Substitution - coding silent(1)	ovary(1)	2											165	132	143					2																	105990124		2203	4300	6503	105356556	SO:0001819	synonymous_variant	2274				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.223C>T	2.37:g.105990124G>A			105356556	Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Silent	SNP	ENST00000409807.1	37	CCDS2070.1																																																																																				0.542	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			A	105990124	G	A	105990124	2	1	230	1	0	0	0	0	0	0	0	1	5879	1020	36	2		2	FHL2	2	105990124	Silent	SNP	G	TCGA-24-1464-01A-01W-0549-09	57961870	105990124	137209249	7	13011											
NEB	4703	genome.wustl.edu	37	2	152409234	152409234	+	Silent	SNP	A	A	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr2:152409234A>G	ENST00000172853.10	-	100	14832	c.14685T>C	c.(14683-14685)gaT>gaC	p.D4895D	NEB_ENST00000409198.1_Silent_p.D4895D|NEB_ENST00000603639.1_Silent_p.D6596D|NEB_ENST00000397345.3_Silent_p.D6596D|NEB_ENST00000604864.1_Silent_p.D6596D|NEB_ENST00000427231.2_Silent_p.D6596D			P20929	NEBU_HUMAN	nebulin	4895					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.D4895D(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGACTGGTGTATCTGTGACAA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	2											205	180	188					2																	152409234		1959	4165	6124	152117480	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14685T>C	2.37:g.152409234A>G			152117480	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152409234	A	G	152409234	2	3	230	1	0	0	0	0	0	0	0	1	10302	446	16	4		4	NEB	2	152409234	Silent	SNP	A	TCGA-24-1464-01A-01W-0549-09	46419110	152409234	90790139	8	13012											
TTN	7273	genome.wustl.edu	37	2	179579191	179579191	+	Silent	SNP	G	G	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr2:179579191G>A	ENST00000591111.1	-	89	25583	c.25359C>T	c.(25357-25359)ttC>ttT	p.F8453F	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.F8770F|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.F7526F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12622	Ig-like 67.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F7526F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTATCTTTGAACCACACCA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	2											73	68	69					2																	179579191		1860	4088	5948	179287436	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25359C>T	2.37:g.179579191G>A			179287436	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179579191	G	A	179579191	2	1	230	1	0	0	0	0	0	0	0	1	16735	1281	45	2		2	TTN	2	179579191	Silent	SNP	G	TCGA-24-1464-01A-01W-0549-09	27169957	179579191	63620182	9	13013											
CCDC141	285025	genome.wustl.edu	37	2	179718332	179718332	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr2:179718332T>A	ENST00000420890.2	-	20	3197	c.3080A>T	c.(3079-3081)gAt>gTt	p.D1027V	CCDC141_ENST00000295723.5_Missense_Mutation_p.D452V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1027								p.D452V(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCACTTGCATCTTCGTACCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											91	91	91					2																	179718332		2203	4300	6503	179426577	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3080A>T	2.37:g.179718332T>A	ENSP00000395995:p.Asp1027Val		179426577	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	T	22.7	4.328751	0.81690	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.37411	1.2;1.2;1.2	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000014	T	0.50154	0.1599	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.49744	-0.8907	10	0.59425	D	0.04	-16.5772	16.6407	0.85098	0.0:0.0:0.0:1.0	.	452	Q6ZP82	CC141_HUMAN	V	1027;471;452	ENSP00000395995:D1027V;ENSP00000344627:D471V;ENSP00000295723:D452V	ENSP00000295723:D452V	D	-	2	0	CCDC141	179426577	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.850000	0.75420	2.326000	0.78906	0.533000	0.62120	GAT		0.348	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		A	179718332	T	A	179718332	3	1	230	1	0	0	0	0	1	0	0	0	2775	1435	50	5	1288	5	CCDC141	2	179718332	Missense_Mutation	SNP	T	TCGA-24-1464-01A-01W-0549-09	139141	179718332	63481041	10	13014											
TUBA4A	7277	genome.wustl.edu	37	2	220116426	220116426	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr2:220116426C>T	ENST00000248437.4	-	3	409	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	TUBA4A_ENST00000392088.2_Missense_Mutation_p.R64Q|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	79					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R79Q(2)|p.R64Q(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TGGGCCATTTCGGATCTCATC	0.547																																																4	Substitution - Missense(4)	ovary(2)|large_intestine(2)	2											81	74	76					2																	220116426		2203	4300	6503	219824670	SO:0001583	missense	7277			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.236G>A	2.37:g.220116426C>T	ENSP00000248437:p.Arg79Gln		219824670	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349294	0.61183	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000002	T	0.72574	0.3477	M	0.88310	2.945	0.80722	D	1	B	0.34181	0.44	B	0.29267	0.1	T	0.78550	-0.2161	10	0.87932	D	0	.	18.6248	0.91333	0.0:1.0:0.0:0.0	.	79	P68366	TBA4A_HUMAN	Q	79;64;64;102;64;81	ENSP00000248437:R79Q;ENSP00000375938:R64Q;ENSP00000408194:R64Q;ENSP00000416992:R102Q;ENSP00000396061:R64Q;ENSP00000404740:R81Q	ENSP00000248437:R79Q	R	-	2	0	TUBA4A	219824670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.564000	0.82326	2.639000	0.89480	0.655000	0.94253	CGA		0.547	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		T	220116426	C	T	220116426	3	4	230	1	0	0	0	0	1	0	0	0	16749	884	31	1	1118	1	TUBA4A	2	220116426	Missense_Mutation	SNP	C	TCGA-24-1464-01A-01W-0549-09	40398094	220116426	23082947	11	13015											
SNX25	83891	genome.wustl.edu	37	4	186267690	186267690	+	Splice_Site	SNP	G	G	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr4:186267690G>A	ENST00000504273.1	+	13	1989		c.e13-1		SNX25_ENST00000512853.1_Splice_Site|SNX25_ENST00000264694.8_Splice_Site			Q9H3E2	SNX25_HUMAN	sorting nexin 25						negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.?(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TCCCCCCACAGTGCGTCCCTT	0.308																																																1	Unknown(1)	ovary(1)	4											48	50	49					4																	186267690		2203	4300	6503	186504684	SO:0001630	splice_region_variant	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1696-1G>A	4.37:g.186267690G>A			186504684	Q3ZT30|Q8N6K3	Splice_Site	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139445	0.77775	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6017	0.95566	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX25	186504684	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.076000	0.94009	2.713000	0.92767	0.655000	0.94253	.		0.308	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	Intron	A	186267690	G	A	186267690	5	1	230	1	0	0	0	0	0	0	1	0	14899	1043	36	2	1741	2	SNX25	4	186267690	Splice_Site	SNP	G	TCGA-24-1464-01A-01W-0549-09		186267690	4886586	12	13016											
IRX1	79192	genome.wustl.edu	37	5	3599809	3599809	+	Silent	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr5:3599809C>T	ENST00000302006.3	+	2	799	c.747C>T	c.(745-747)gcC>gcT	p.A249A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	249					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A249A(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGGACAAGGCCGAGGCTCCGC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	5											44	43	44					5																	3599809		2201	4299	6500	3652809	SO:0001819	synonymous_variant	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.747C>T	5.37:g.3599809C>T			3652809	Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	CCDS34132.1																																																																																				0.652	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		T	3599809	C	T	3599809	2	4	230	1	0	0	0	0	0	0	0	1	7843	639	23	1		1	IRX1	5	3599809	Silent	SNP	C	TCGA-24-1464-01A-01W-0549-09		3599809	177315451	13	13017											
CAMK4	814	genome.wustl.edu	37	5	110730457	110730457	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr5:110730457A>G	ENST00000282356.4	+	5	834	c.436A>G	c.(436-438)Aaa>Gaa	p.K146E	CAMK4_ENST00000512453.1_Missense_Mutation_p.K146E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.K146E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGATGCCGTTAAACAAATCCT	0.398																																																1	Substitution - Missense(1)	ovary(1)	5											135	134	134					5																	110730457		2202	4300	6502	110758356	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.436A>G	5.37:g.110730457A>G	ENSP00000282356:p.Lys146Glu		110758356	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587309	0.86851	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.51071	0.72;0.72	5.65	5.65	0.86999	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	0.63129	0.2485	M	0.68728	2.09	0.53688	D	0.999974	D	0.59767	0.986	P	0.60236	0.871	T	0.63743	-0.6568	9	.	.	.	.	14.8633	0.70397	1.0:0.0:0.0:0.0	.	146	Q16566	KCC4_HUMAN	E	146	ENSP00000422634:K146E;ENSP00000282356:K146E	.	K	+	1	0	CAMK4	110758356	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.227000	0.78070	2.165000	0.68154	0.383000	0.25322	AAA		0.398	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		G	110730457	A	G	110730457	3	3	230	1	0	0	0	0	1	0	0	0	2605	363	13	4	454	4	CAMK4	5	110730457	Missense_Mutation	SNP	A	TCGA-24-1464-01A-01W-0549-09	107130648	110730457	70184803	14	13018											
COMMD10	51397	genome.wustl.edu	37	5	115428328	115428328	+	Silent	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr5:115428328C>T	ENST00000274458.4	+	4	392	c.330C>T	c.(328-330)gtC>gtT	p.V110V	COMMD10_ENST00000515539.1_Silent_p.V96V	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	110								p.V110V(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		AAGCATTTGTCAATACGTGGT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	5											99	89	93					5																	115428328		2202	4300	6502	115456227	SO:0001819	synonymous_variant	51397			AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.330C>T	5.37:g.115428328C>T			115456227	D3DT07|Q9P077	Silent	SNP	ENST00000274458.4	37	CCDS34215.1																																																																																				0.383	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		T	115428328	C	T	115428328	2	4	230	1	0	0	0	0	0	0	0	1	3715	813	29	2		2	COMMD10	5	115428328	Silent	SNP	C	TCGA-24-1464-01A-01W-0549-09	4697871	115428328	65486932	15	13019											
CDX1	1044	genome.wustl.edu	37	5	149562371	149562371	+	Silent	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr5:149562371C>T	ENST00000231656.8	+	2	568	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	162					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.T162T(2)		central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTCTACACCGACCACCAAC	0.547																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	5											157	159	158					5																	149562371		2203	4300	6503	149542564	SO:0001819	synonymous_variant	1044			U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"Homeoboxes / ANTP class : HOXL subclass"	1805	protein-coding gene	gene with protein product		600746	"caudal type homeo box transcription factor 1"			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.486C>T	5.37:g.149562371C>T			149542564	Q4VAU4|Q9NYK8	Silent	SNP	ENST00000231656.8	37	CCDS4304.1																																																																																				0.547	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		T	149562371	C	T	149562371	2	4	230	1	0	0	0	0	0	0	0	1	3182	639	23	1		1	CDX1	5	149562371	Silent	SNP	C	TCGA-24-1464-01A-01W-0549-09	34134043	149562371	31352889	16	13020											
RIOK1	83732	genome.wustl.edu	37	6	7414604	7414604	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr6:7414604A>G	ENST00000379834.2	+	16	2084	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	526							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D519G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CACACCACGGACCCTGACATT	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											113	117	116					6																	7414604		2203	4300	6503	7359603	SO:0001583	missense	83732			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1577A>G	6.37:g.7414604A>G	ENSP00000369162:p.Asp526Gly		7359603	B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	A	8.831	0.939901	0.18281	.	.	ENSG00000124784	ENST00000379834	T	0.06768	3.26	5.58	1.8	0.24995	.	0.529846	0.21524	N	0.073172	T	0.02342	0.0072	L	0.52759	1.655	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43327	-0.9398	10	0.48119	T	0.1	-6.0633	5.3377	0.15967	0.7061:0.0:0.1606:0.1334	.	526	Q9BRS2	RIOK1_HUMAN	G	526	ENSP00000369162:D526G	ENSP00000369162:D526G	D	+	2	0	RIOK1	7359603	0.078000	0.21339	0.000000	0.03702	0.039000	0.13416	1.956000	0.40382	-0.158000	0.11040	-1.450000	0.01041	GAC		0.463	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		G	7414604	A	G	7414604	3	3	230	1	0	0	0	0	1	0	0	0	13380	275	10	4	1639	4	RIOK1	6	7414604	Missense_Mutation	SNP	A	TCGA-24-1464-01A-01W-0549-09		7414604	163700463	17	13021											
VARS2	57176	genome.wustl.edu	37	6	30892146	30892146	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr6:30892146G>A	ENST00000321897.5	+	25	3114	c.2482G>A	c.(2482-2484)Gtg>Atg	p.V828M	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.V828M|VARS2_ENST00000542001.1_Missense_Mutation_p.V688M|VARS2_ENST00000541562.1_Missense_Mutation_p.V858M			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	828					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.V828M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGTGAAGCCCGTGCTGTGGCA	0.697																																																1	Substitution - Missense(1)	ovary(1)	6											29	37	34					6																	30892146		1503	2691	4194	31000125	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2482G>A	6.37:g.30892146G>A	ENSP00000316092:p.Val828Met		31000125	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147198	0.37923	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.47	2.69	0.31865	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.879091	0.10016	N	0.726569	T	0.08802	0.0218	L	0.51914	1.62	0.09310	N	1	D;P;P;P	0.53462	0.96;0.842;0.81;0.733	P;B;B;B	0.51833	0.681;0.443;0.316;0.166	T	0.21861	-1.0233	10	0.52906	T	0.07	-0.55	6.0083	0.19559	0.1667:0.3296:0.5037:0.0	.	266;826;858;828	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	M	828;828;688;858	ENSP00000316092:V828M;ENSP00000394802:V828M;ENSP00000438200:V688M;ENSP00000441000:V858M	ENSP00000316092:V828M	V	+	1	0	VARS2	31000125	0.957000	0.32711	0.001000	0.08648	0.001000	0.01503	1.662000	0.37418	0.261000	0.21753	-0.886000	0.02939	GTG		0.697	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		A	30892146	G	A	30892146	3	1	230	1	0	0	0	0	1	0	0	0	17124	1145	40	1	2674	1	VARS2	6	30892146	Missense_Mutation	SNP	G	TCGA-24-1464-01A-01W-0549-09	23477542	30892146	140222921	18	13022											
MSH5	4439	genome.wustl.edu	37	6	31715210	31715210	+	Splice_Site	SNP	G	G	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr6:31715210G>T	ENST00000375755.3	+	10	1098		c.e10+1		MSH5_ENST00000375703.3_Splice_Site|MSH5-SAPCD1_ENST00000493662.2_Splice_Site|MSH5_ENST00000375742.3_Splice_Site|MSH5_ENST00000375740.3_Splice_Site|MSH5_ENST00000431848.2_Splice_Site|MSH5_ENST00000534153.4_Splice_Site|MSH5_ENST00000375750.3_Splice_Site	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5						ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.?(1)		breast(1)|ovary(2)|skin(2)	5						AGCTGCTCAGGTGAGTGGGTC	0.473								Direct reversal of damage;Mismatch excision repair (MMR)																																								1	Unknown(1)	ovary(1)	6											143	100	115					6																	31715210		1511	2709	4220	31823189	SO:0001630	splice_region_variant	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.812+1G>T	6.37:g.31715210G>T			31823189	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Splice_Site	SNP	ENST00000375755.3	37	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668719	0.67814	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7925	0.69854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH5	31823189	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.089000	0.64492	2.546000	0.85860	0.643000	0.83706	.		0.473	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		Intron	T	31715210	G	T	31715210	5	4	230	1	0	0	0	0	0	0	1	0	9873	1275	44	3	898	3	MSH5	6	31715210	Splice_Site	SNP	G	TCGA-24-1464-01A-01W-0549-09	823064	31715210	139399857	19	13023											
VPS52	6293	genome.wustl.edu	37	6	33231265	33231265	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr6:33231265G>C	ENST00000445902.2	-	17	2008	c.1790C>G	c.(1789-1791)aCa>aGa	p.T597R	VPS52_ENST00000436044.2_Missense_Mutation_p.T472R|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	597					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.T597R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCCTACCTGTGTCCGAGCATT	0.522																																																1	Substitution - Missense(1)	ovary(1)	6											132	111	118					6																	33231265		2203	4300	6503	33339243	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1790C>G	6.37:g.33231265G>C	ENSP00000409952:p.Thr597Arg		33339243	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884157	0.91814	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.47190	1.495	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.62491	0.903;0.848	T	0.46428	-0.9192	9	0.17369	T	0.5	-12.4932	16.237	0.82381	0.0:0.0:1.0:0.0	.	408;597	B3KMF7;Q8N1B4	.;VPS52_HUMAN	R	597;575;472	.	ENSP00000414785:T575R	T	-	2	0	VPS52	33339243	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.660000	0.83776	2.779000	0.95612	0.573000	0.79308	ACA		0.522	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		C	33231265	G	C	33231265	3	2	230	1	0	0	0	0	1	0	0	0	17214	1377	48	3	397	3	VPS52	6	33231265	Missense_Mutation	SNP	G	TCGA-24-1464-01A-01W-0549-09	1516055	33231265	137883802	20	13024											
ZNF736	728927	genome.wustl.edu	37	7	63808785	63808786	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	TG	TG	TG	-	TG	TG	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr7:63808785_63808786delTG	ENST00000423484.2	+	4	666_667	c.544_545delTG	c.(544-546)tgtfs	p.C182fs	ZNF736_ENST00000355095.4_Frame_Shift_Del_p.C182fs			B4DX44	ZN736_HUMAN	zinc finger protein 736	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						TGGCAAAGACTGTAGGTTGTTC	0.351																																																0			7																																								63446221	SO:0001589	frameshift_variant	728927				CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"Zinc fingers, C2H2-type", "-"	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.544_545delTG	7.37:g.63808785_63808786delTG	ENSP00000400852:p.Cys182fs		63446220		Frame_Shift_Del	DEL	ENST00000423484.2	37	CCDS55114.1																																																																																				0.351	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2	NM_001170905		-	63808786	TG	-	63808785	7	5	230	1	0	1	0	1	0	0	0	0	18125	1580	55	0	558	0	ZNF736	7	63808785	Frame_Shift_Del	DEL	TG	TCGA-24-1464-01A-01W-0549-09		63808785	95329878	21	13025											
LRRC17	10234	genome.wustl.edu	37	7	102579998	102579998	+	Silent	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr7:102579998C>T	ENST00000339431.4	+	3	1189	c.894C>T	c.(892-894)aaC>aaT	p.N298N	FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_Silent_p.N298N|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	298					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.N298N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGAAATTAAACCTCAGCAGCA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	7											118	119	118					7																	102579998		2203	4300	6503	102367234	SO:0001819	synonymous_variant	10234			U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.894C>T	7.37:g.102579998C>T			102367234	Q13288|Q6UWA7|Q75MG5	Silent	SNP	ENST00000339431.4	37	CCDS34721.1																																																																																				0.398	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		T	102579998	C	T	102579998	2	4	230	1	0	0	0	0	0	0	0	1	8973	506	18	2		2	LRRC17	7	102579998	Silent	SNP	C	TCGA-24-1464-01A-01W-0549-09	38771213	102579998	56558665	22	13026											
ZNF706	51123	genome.wustl.edu	37	8	102213847	102213847	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr8:102213847G>T	ENST00000520347.1	-	2	3079	c.123C>A	c.(121-123)tgC>tgA	p.C41*	ZNF706_ENST00000519744.1_Nonsense_Mutation_p.C41*|ZNF706_ENST00000519882.1_Nonsense_Mutation_p.C41*|ZNF706_ENST00000518336.1_Nonsense_Mutation_p.C41*|ZNF706_ENST00000517844.1_Nonsense_Mutation_p.C41*|ZNF706_ENST00000520984.1_Nonsense_Mutation_p.C41*|ZNF706_ENST00000311212.4_Nonsense_Mutation_p.C41*|ZNF706_ENST00000521272.1_Nonsense_Mutation_p.C41*			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	41							metal ion binding (GO:0046872)	p.C41*(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			TACAGACAGTGCAGGTATATA	0.408																																																2	Substitution - Nonsense(2)	ovary(2)	8											145	135	138					8																	102213847		2203	4300	6503	102283023	SO:0001587	stop_gained	51123			AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.123C>A	8.37:g.102213847G>T	ENSP00000430823:p.Cys41*		102283023	A8K362	Nonsense_Mutation	SNP	ENST00000520347.1	37	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258145	0.95368	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000519103;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0113	0.53289	0.0796:0.0:0.9204:0.0	.	.	.	.	X	41;41;41;41;13;41;41;41;41;41	.	ENSP00000311768:C41X	C	-	3	2	ZNF706	102283023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.924000	0.63418	2.446000	0.82766	0.563000	0.77884	TGC		0.408	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1	NM_016096		T	102213847	G	T	102213847	4	4	230	1	0	0	0	0	0	1	0	0	18110	1311	46	3	115	3	ZNF706	8	102213847	Nonsense_Mutation	SNP	G	TCGA-24-1464-01A-01W-0549-09		102213847	44150175	23	13027											
CSMD3	114788	genome.wustl.edu	37	8	113563048	113563048	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr8:113563048C>G	ENST00000297405.5	-	27	4660	c.4416G>C	c.(4414-4416)tgG>tgC	p.W1472C	CSMD3_ENST00000352409.3_Missense_Mutation_p.W1472C|CSMD3_ENST00000343508.3_Missense_Mutation_p.W1432C|CSMD3_ENST00000455883.2_Missense_Mutation_p.W1368C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1472	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W1472C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGGACCGTCCCAGACTCGGA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											75	73	74					8																	113563048		2203	4300	6503	113632224	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4416G>C	8.37:g.113563048C>G	ENSP00000297405:p.Trp1472Cys		113632224	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782819	0.70222	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.36	4.36	0.52297	CUB (5);	0.000000	0.64402	D	0.000002	T	0.79488	0.4454	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.986;0.951	T	0.80032	-0.1552	10	0.26408	T	0.33	.	17.4138	0.87494	0.0:1.0:0.0:0.0	.	1368;1472;1432	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1432;1472;812;1368;1472	ENSP00000345799:W1432C;ENSP00000297405:W1472C;ENSP00000341558:W812C;ENSP00000412263:W1368C;ENSP00000343124:W1472C	ENSP00000297405:W1472C	W	-	3	0	CSMD3	113632224	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.609000	0.82925	2.412000	0.81896	0.591000	0.81541	TGG		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113563048	C	G	113563048	3	3	230	1	0	0	0	0	1	0	0	0	3946	624	22	3	6887	3	CSMD3	8	113563048	Missense_Mutation	SNP	C	TCGA-24-1464-01A-01W-0549-09	11349201	113563048	32800974	24	13028											
PHF20L1	51105	genome.wustl.edu	37	8	133816277	133816277	+	Splice_Site	SNP	G	G	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr8:133816277G>T	ENST00000395386.2	+	7	1020	c.721G>T	c.(721-723)Gga>Tga	p.G241*	PHF20L1_ENST00000395376.1_Splice_Site_p.V245L|PHF20L1_ENST00000337920.4_Splice_Site_p.G215*|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Splice_Site_p.V215L|PHF20L1_ENST00000395379.1_Splice_Site_p.G241*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	241							zinc ion binding (GO:0008270)	p.G215*(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGAAACATTTGGTACAAAATA	0.353																																																2	Substitution - Nonsense(2)	ovary(2)	8											81	67	72					8																	133816277		2203	4299	6502	133885459	SO:0001630	splice_region_variant	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.721+1G>T	8.37:g.133816277G>T			133885459	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.863376|7.863376	0.98531|0.98531	.|.	.|.	ENSG00000129292|ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395382;ENST00000395374|ENST00000361997;ENST00000395376;ENST00000395390	.|T;T;T	.|0.48836	.|0.89;0.8;1.5	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.37715	.|U	.|0.001971	.|T	.|0.58163	.|0.2103	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50363	.|-0.8837	.|7	0.19147|0.27785	T|T	0.46|0.31	.|.	18.2561|18.2561	0.90020|0.90020	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	245;241;241;241;215;111;80|215;245;215	.|ENSP00000355301:V215L;ENSP00000378775:V245L;ENSP00000378788:V215L	ENSP00000324519:G241X|ENSP00000355301:V215L	G|V	+|+	1|1	0|0	PHF20L1|PHF20L1	133885459|133885459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.159000|7.159000	0.77483|0.77483	2.563000|2.563000	0.86464|0.86464	0.585000|0.585000	0.79938|0.79938	GGA|GTA		0.353	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	Nonsense_Mutation	T	133816277	G	T	133816277	5	4	230	1	0	0	0	0	0	0	1	0	11832	1362	47	3	743	3	PHF20L1	8	133816277	Splice_Site	SNP	G	TCGA-24-1464-01A-01W-0549-09	20253229	133816277	12547745	25	13029											
C8orf73	642475	genome.wustl.edu	37	8	144654356	144654356	+	Splice_Site	SNP	C	C	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr8:144654356C>G	ENST00000398882.3	-	2	551		c.e2-1		RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank|NAPRT1_ENST00000460623.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6									p.?(1)									TCTGGGGAACCTAGGGCAGGA	0.632																																																1	Unknown(1)	ovary(1)	8											34	37	36					8																	144654356		2049	4174	6223	144725499	SO:0001630	splice_region_variant	642475			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.295-1G>C	8.37:g.144654356C>G			144725499	A8MWB1	Splice_Site	SNP	ENST00000398882.3	37	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.250558	0.22880	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	.	.	.	3.88	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3642	0.16105	0.0:0.6736:0.2078:0.1186	.	.	.	.	.	-1	.	.	.	-	.	.	C8orf73	144725499	0.757000	0.28394	0.014000	0.15608	0.152000	0.21847	3.518000	0.53451	0.801000	0.34066	0.455000	0.32223	.		0.632	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878	Intron	G	144654356	C	G	144654356	5	3	230	1	0	0	0	0	0	0	1	0	2435	695	24	3	1917	3	C8orf73	8	144654356	Splice_Site	SNP	C	TCGA-24-1464-01A-01W-0549-09	10838079	144654356	1709666	26	13030											
KIAA1462	57608	genome.wustl.edu	37	10	30317348	30317348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr10:30317348C>A	ENST00000375377.1	-	3	1830	c.1729G>T	c.(1729-1731)Gag>Tag	p.E577*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	577					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.E577*(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AATATAGTCTCGTTCATTTTT	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	10											98	98	98					10																	30317348		1832	4086	5918	30357354	SO:0001587	stop_gained	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1729G>T	10.37:g.30317348C>A	ENSP00000364526:p.Glu577*		30357354	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654942	0.96724	.	.	ENSG00000165757	ENST00000375377	.	.	.	5.62	4.71	0.59529	.	0.159020	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.8284	14.685	0.69042	0.0:0.9299:0.0:0.07	.	.	.	.	X	577	.	ENSP00000364526:E577X	E	-	1	0	KIAA1462	30357354	1.000000	0.71417	0.260000	0.24451	0.003000	0.03518	7.115000	0.77110	1.380000	0.46344	-0.291000	0.09656	GAG		0.418	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30317348	C	A	30317348	4	1	230	1	0	0	0	0	0	1	0	0	8234	893	31	3	2358	3	KIAA1462	10	30317348	Nonsense_Mutation	SNP	C	TCGA-24-1464-01A-01W-0549-09		30317348	105217399	27	13031											
KIF5B	3799	genome.wustl.edu	37	10	32329377	32329377	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr10:32329377C>T	ENST00000302418.4	-	3	680	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	75	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E75K(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTATATCCTTCAAGTACATCT	0.343			T	"RET, ALK"	NSCLC																																		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	1	Substitution - Missense(1)	ovary(1)	10											159	146	150					10																	32329377		2202	4296	6498	32369383	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.223G>A	10.37:g.32329377C>T	ENSP00000307078:p.Glu75Lys		32369383	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192525	0.38707	.	.	ENSG00000170759	ENST00000302418	T	0.73363	-0.74	5.8	5.8	0.92144	Kinesin, motor domain (4);	0.208574	0.49305	D	0.000145	T	0.57784	0.2077	N	0.10664	0.02	0.43936	D	0.996595	B	0.02656	0.0	B	0.10450	0.005	T	0.54077	-0.8347	10	0.13470	T	0.59	.	20.1011	0.97876	0.0:1.0:0.0:0.0	.	75	P33176	KINH_HUMAN	K	75	ENSP00000307078:E75K	ENSP00000307078:E75K	E	-	1	0	KIF5B	32369383	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.766000	0.62279	2.754000	0.94517	0.650000	0.86243	GAA		0.343	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		T	32329377	C	T	32329377	3	4	230	1	0	0	0	0	1	0	0	0	8306	835	29	2	2760	2	KIF5B	10	32329377	Missense_Mutation	SNP	C	TCGA-24-1464-01A-01W-0549-09	2012029	32329377	103205370	28	13032											
NHLRC2	374354	genome.wustl.edu	37	10	115668208	115668208	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr10:115668208G>A	ENST00000369301.3	+	11	2306	c.2094G>A	c.(2092-2094)atG>atA	p.M698I		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	698								p.M698I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		CTTGTATGATGAAGGCAATTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	10											147	131	136					10																	115668208		2203	4300	6503	115658198	SO:0001583	missense	374354			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.2094G>A	10.37:g.115668208G>A	ENSP00000358307:p.Met698Ile		115658198	Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776129	0.90195	.	.	ENSG00000196865	ENST00000369301	T	0.43294	0.95	5.68	5.68	0.88126	.	0.045134	0.85682	D	0.000000	T	0.47248	0.1435	L	0.34521	1.04	0.58432	D	0.999996	D	0.65815	0.995	P	0.55455	0.776	T	0.15752	-1.0426	10	0.21540	T	0.41	-25.9136	17.9619	0.89087	0.0:0.0:1.0:0.0	.	698	Q8NBF2	NHLC2_HUMAN	I	698	ENSP00000358307:M698I	ENSP00000358307:M698I	M	+	3	0	NHLRC2	115658198	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.993000	0.93524	2.688000	0.91661	0.591000	0.81541	ATG		0.408	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		A	115668208	G	A	115668208	3	1	230	1	0	0	0	0	1	0	0	0	10406	1290	45	2	2136	2	NHLRC2	10	115668208	Missense_Mutation	SNP	G	TCGA-24-1464-01A-01W-0549-09	83338831	115668208	19866539	29	13033											
C11orf40	143501	genome.wustl.edu	37	11	4594688	4594688	+	Silent	SNP	A	A	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr11:4594688A>G	ENST00000307616.1	-	2	155	c.156T>C	c.(154-156)aaT>aaC	p.N52N		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	52								p.N52N(1)		large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTATAAGGATATTTTTGGATG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	11											100	96	97					11																	4594688		2201	4298	6499	4551264	SO:0001819	synonymous_variant	143501				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.156T>C	11.37:g.4594688A>G			4551264		Silent	SNP	ENST00000307616.1	37	CCDS31354.1																																																																																				0.423	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		G	4594688	A	G	4594688	2	3	230	1	0	0	0	0	0	0	0	1	1639	446	16	4		4	C11orf40	11	4594688	Silent	SNP	A	TCGA-24-1464-01A-01W-0549-09		4594688	130411828	30	13034											
OR4C16	219428	genome.wustl.edu	37	11	55339859	55339859	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr11:55339859A>T	ENST00000314634.3	+	1	256	c.256A>T	c.(256-258)Aag>Tag	p.K86*		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K86*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGCCCTTTTGAAGAAGACAAC	0.433																																																1	Substitution - Nonsense(1)	ovary(1)	11											262	245	251					11																	55339859		2201	4296	6497	55096435	SO:0001587	stop_gained	219428			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.256A>T	11.37:g.55339859A>T	ENSP00000324913:p.Lys86*		55096435	Q6IEV8	Nonsense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	A	6.319	0.427032	0.11987	.	.	ENSG00000181935	ENST00000314634	.	.	.	4.98	-0.543	0.11851	.	0.573496	0.17835	N	0.160387	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	4.8008	0.13296	0.4874:0.0:0.369:0.1436	.	.	.	.	X	86	.	ENSP00000324913:K86X	K	+	1	0	OR4C16	55096435	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.282000	0.08445	0.015000	0.14971	0.448000	0.29417	AAG		0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		T	55339859	A	T	55339859	4	4	230	1	0	0	0	0	0	1	0	0	11049	247	9	5	258	5	OR4C16	11	55339859	Nonsense_Mutation	SNP	A	TCGA-24-1464-01A-01W-0549-09	50745171	55339859	79666657	31	13035											
OR10Q1	219960	genome.wustl.edu	37	11	57995922	57995922	+	Silent	SNP	G	G	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr11:57995922G>A	ENST00000316770.2	-	1	468	c.426C>T	c.(424-426)cgC>cgT	p.R142R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R142R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGCACAGCTCGCGGGTCATGA	0.632																																																1	Substitution - coding silent(1)	ovary(1)	11											61	53	56					11																	57995922		2201	4295	6496	57752498	SO:0001819	synonymous_variant	219960			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.426C>T	11.37:g.57995922G>A			57752498	Q6IFG4	Silent	SNP	ENST00000316770.2	37	CCDS31547.1																																																																																				0.632	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		A	57995922	G	A	57995922	2	1	230	1	0	0	0	0	0	0	0	1	10916	1074	38	1		1	OR10Q1	11	57995922	Silent	SNP	G	TCGA-24-1464-01A-01W-0549-09	2656063	57995922	77010594	32	13036											
FERMT3	83706	genome.wustl.edu	37	11	63988554	63988554	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr11:63988554C>T	ENST00000279227.5	+	13	1719	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	FERMT3_ENST00000345728.5_Missense_Mutation_p.R538C	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	542	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)	p.R538C(1)|p.R542C(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGCCCAGCTGCGCTTCATCCA	0.662																																																2	Substitution - Missense(2)	ovary(2)	11											100	86	91					11																	63988554		2201	4297	6498	63745130	SO:0001583	missense	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1624C>T	11.37:g.63988554C>T	ENSP00000279227:p.Arg542Cys		63745130	Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819062	0.71028	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	T;T	0.79454	-1.27;-1.27	4.29	4.29	0.51040	Band 4.1 domain (1);FERM central domain (2);	0.068219	0.56097	D	0.000029	D	0.82944	0.5147	L	0.52905	1.665	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	P;D	0.65773	0.855;0.938	D	0.83431	0.0038	10	0.54805	T	0.06	-26.3612	11.8234	0.52252	0.176:0.824:0.0:0.0	.	538;542	Q86UX7-2;Q86UX7	.;URP2_HUMAN	C	538;542	ENSP00000339950:R538C;ENSP00000279227:R542C	ENSP00000279227:R542C	R	+	1	0	FERMT3	63745130	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.471000	0.35365	2.386000	0.81285	0.462000	0.41574	CGC		0.662	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		T	63988554	C	T	63988554	3	4	230	1	0	0	0	0	1	0	0	0	5819	768	27	1	1670	1	FERMT3	11	63988554	Missense_Mutation	SNP	C	TCGA-24-1464-01A-01W-0549-09	5992632	63988554	71017962	33	13037											
MAML2	84441	genome.wustl.edu	37	11	95825655	95825655	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr11:95825655T>C	ENST00000524717.1	-	2	2824	c.1540A>G	c.(1540-1542)Atg>Gtg	p.M514V		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	514					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.M514V(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCCTTGTACATGTAGTTAGCC	0.577			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - Missense(1)	ovary(1)	11											38	41	40					11																	95825655		1948	4136	6084	95465303	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1540A>G	11.37:g.95825655T>C	ENSP00000434552:p.Met514Val		95465303	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	T	4.097	0.016108	0.07959	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.60299	0.2;0.2	5.5	1.78	0.24846	.	0.525558	0.19954	N	0.102348	T	0.31918	0.0812	N	0.12182	0.205	0.21553	N	0.999649	B	0.02656	0.0	B	0.01281	0.0	T	0.15037	-1.0451	10	0.19590	T	0.45	-2.9423	6.1144	0.20117	0.0:0.1523:0.4025:0.4453	.	514	Q8IZL2	MAML2_HUMAN	V	514	ENSP00000434552:M514V;ENSP00000412394:M514V	ENSP00000412394:M514V	M	-	1	0	MAML2	95465303	1.000000	0.71417	0.991000	0.47740	0.392000	0.30506	0.887000	0.28254	0.042000	0.15717	0.454000	0.30748	ATG		0.577	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			C	95825655	T	C	95825655	3	2	230	1	0	0	0	0	1	0	0	0	9206	1464	51	4	1946	4	MAML2	11	95825655	Missense_Mutation	SNP	T	TCGA-24-1464-01A-01W-0549-09	31837101	95825655	39180861	34	13038											
CNTN5	53942	genome.wustl.edu	37	11	100061892	100061892	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr11:100061892C>G	ENST00000524871.1	+	14	1905	c.1615C>G	c.(1615-1617)Cta>Gta	p.L539V	CNTN5_ENST00000279463.3_Missense_Mutation_p.L539V|CNTN5_ENST00000418526.2_Missense_Mutation_p.L465V|CNTN5_ENST00000527185.1_Missense_Mutation_p.L539V|CNTN5_ENST00000528682.1_Missense_Mutation_p.L539V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	539	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L539V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTACGGATCCTAAATGCTTC	0.373																																																1	Substitution - Missense(1)	ovary(1)	11											69	69	69					11																	100061892		1823	4077	5900	99567102	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1615C>G	11.37:g.100061892C>G	ENSP00000435637:p.Leu539Val		99567102	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	7.191	0.591610	0.13812	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.52	3.66	0.41972	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.125920	0.56097	D	0.000038	T	0.49490	0.1560	N	0.21282	0.65	0.38377	D	0.945032	B;B;B	0.23854	0.034;0.075;0.092	B;B;B	0.28916	0.017;0.01;0.096	T	0.38023	-0.9680	10	0.18276	T	0.48	.	9.1724	0.37091	0.0:0.7772:0.0:0.2228	.	539;465;539	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	V	539;539;539;465;539	ENSP00000433575:L539V;ENSP00000436185:L539V;ENSP00000435637:L539V;ENSP00000393229:L465V;ENSP00000279463:L539V	ENSP00000279463:L539V	L	+	1	2	CNTN5	99567102	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.512000	0.22755	0.823000	0.34589	0.650000	0.86243	CTA		0.373	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		G	100061892	C	G	100061892	3	3	230	1	0	0	0	0	1	0	0	0	3644	680	24	3	1661	3	CNTN5	11	100061892	Missense_Mutation	SNP	C	TCGA-24-1464-01A-01W-0549-09	4236237	100061892	34944624	35	13039											
WBP11	51729	genome.wustl.edu	37	12	14946790	14946790	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr12:14946790T>C	ENST00000261167.2	-	8	1021	c.788A>G	c.(787-789)gAt>gGt	p.D263G		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	263	Asp-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.D263G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTTATCTTGATCCATGTCCTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	12											254	210	225					12																	14946790		2203	4300	6503	14838057	SO:0001583	missense	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.788A>G	12.37:g.14946790T>C	ENSP00000261167:p.Asp263Gly		14838057	Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464727	0.26335	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	D	0.90069	-2.61	5.38	5.38	0.77491	.	0.106321	0.64402	D	0.000006	T	0.81069	0.4746	N	0.17082	0.46	0.41950	D	0.990659	B	0.02656	0.0	B	0.04013	0.001	T	0.77316	-0.2633	10	0.52906	T	0.07	-9.5792	13.332	0.60492	0.0:0.0:0.0:1.0	.	263	Q9Y2W2	WBP11_HUMAN	G	263	ENSP00000442868:D263G	ENSP00000261167:D263G	D	-	2	0	WBP11	14838057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.212000	0.65225	2.051000	0.60960	0.533000	0.62120	GAT		0.458	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		C	14946790	T	C	14946790	3	2	230	1	0	0	0	0	1	0	0	0	17258	1435	50	4	1157	4	WBP11	12	14946790	Missense_Mutation	SNP	T	TCGA-24-1464-01A-01W-0549-09		14946790	118905105	36	13040											
HOXC4	3221	genome.wustl.edu	37	12	54447926	54447926	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr12:54447926G>C	ENST00000430889.2	+	1	266	c.220G>C	c.(220-222)Ggg>Cgg	p.G74R	HOXC4_ENST00000303406.4_Missense_Mutation_p.G74R|HOXC4_ENST00000609810.1_Missense_Mutation_p.G74R	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	74					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G74R(1)		cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CAGTCTCCAGGGGCCCGGCAA	0.687																																																1	Substitution - Missense(1)	ovary(1)	12											46	55	52					12																	54447926		2203	4300	6503	52734193	SO:0001583	missense	3221				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.220G>C	12.37:g.54447926G>C	ENSP00000399808:p.Gly74Arg		52734193		Missense_Mutation	SNP	ENST00000430889.2	37	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014101	0.35511	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.81821	-1.54;-1.54	3.95	3.95	0.45737	.	0.131624	0.49916	D	0.000131	T	0.74635	0.3742	L	0.50333	1.59	0.37164	D	0.902748	B	0.14438	0.01	B	0.10450	0.005	T	0.72918	-0.4146	10	0.20519	T	0.43	.	15.2809	0.73784	0.0:0.0:1.0:0.0	.	74	P09017	HXC4_HUMAN	R	74	ENSP00000305973:G74R;ENSP00000399808:G74R	ENSP00000305973:G74R	G	+	1	0	HOXC4	52734193	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.912000	0.69948	2.187000	0.69744	0.462000	0.41574	GGG		0.687	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			C	54447926	G	C	54447926	3	2	230	1	0	0	0	0	1	0	0	0	7313	1232	43	3	222	3	HOXC4	12	54447926	Missense_Mutation	SNP	G	TCGA-24-1464-01A-01W-0549-09	39501136	54447926	79403969	37	13041											
TMTC2	160335	genome.wustl.edu	37	12	83081385	83081385	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr12:83081385G>T	ENST00000321196.3	+	1	727	c.20G>T	c.(19-21)aGc>aTc	p.S7I	TMTC2_ENST00000548305.1_Missense_Mutation_p.S7I	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	7					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.S7I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAGTTGGTGAGCAGCGCTCTG	0.612											OREG0022010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											93	76	82					12																	83081385		2203	4297	6500	81605516	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.20G>T	12.37:g.83081385G>T	ENSP00000322300:p.Ser7Ile	1218	81605516	B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762115	0.49468	.	.	ENSG00000179104	ENST00000321196;ENST00000548305	T;T	0.58940	0.96;0.3	4.85	4.85	0.62838	.	0.185701	0.38326	N	0.001738	T	0.30039	0.0752	N	0.03983	-0.305	0.80722	D	1	B;B	0.33694	0.421;0.013	B;B	0.29267	0.1;0.015	T	0.36768	-0.9734	10	0.05721	T	0.95	-4.5647	16.8876	0.86079	0.0:0.0:1.0:0.0	.	7;7	Q8N394;F8VSH2	TMTC2_HUMAN;.	I	7	ENSP00000322300:S7I;ENSP00000448292:S7I	ENSP00000322300:S7I	S	+	2	0	TMTC2	81605516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.807000	0.86032	2.536000	0.85505	0.462000	0.41574	AGC		0.612	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		T	83081385	G	T	83081385	3	4	230	1	0	0	0	0	1	0	0	0	16261	971	34	3	22	3	TMTC2	12	83081385	Missense_Mutation	SNP	G	TCGA-24-1464-01A-01W-0549-09	28633459	83081385	50770510	38	13042											
GCN1L1	10985	genome.wustl.edu	37	12	120595680	120595680	+	Silent	SNP	G	G	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr12:120595680G>A	ENST00000300648.6	-	26	3072	c.3060C>T	c.(3058-3060)ccC>ccT	p.P1020P	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1020					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.P1020P(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGGTGTTGGGGGAGGCCC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	12											37	43	41					12																	120595680		1939	4123	6062	119080063	SO:0001819	synonymous_variant	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3060C>T	12.37:g.120595680G>A			119080063	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																				0.617	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			A	120595680	G	A	120595680	2	1	230	1	0	0	0	0	0	0	0	1	6299	1335	47	2		2	GCN1L1	12	120595680	Silent	SNP	G	TCGA-24-1464-01A-01W-0549-09	37514295	120595680	13256215	39	13043											
PDS5B	23047	genome.wustl.edu	37	13	33330035	33330035	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr13:33330035G>T	ENST00000315596.10	+	26	3183	c.2997G>T	c.(2995-2997)ttG>ttT	p.L999F		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	999					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.L999F(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTCACCTTTTGGCACATGACC	0.289																																																1	Substitution - Missense(1)	ovary(1)	13											128	118	121					13																	33330035		1816	4067	5883	32228035	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2997G>T	13.37:g.33330035G>T	ENSP00000313851:p.Leu999Phe		32228035	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706692	0.68615	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.73897	-0.79	5.65	3.82	0.43975	Armadillo-type fold (1);	0.066425	0.64402	D	0.000014	T	0.81828	0.4905	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81731	-0.0799	10	0.87932	D	0	-11.6203	5.3408	0.15982	0.1608:0.0:0.5642:0.275	.	999	Q9NTI5	PDS5B_HUMAN	F	999	ENSP00000313851:L999F	ENSP00000313851:L999F	L	+	3	2	PDS5B	32228035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.547000	0.45786	1.389000	0.46526	0.491000	0.48974	TTG		0.289	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		T	33330035	G	T	33330035	3	4	230	1	0	0	0	0	1	0	0	0	11692	1339	47	3	3095	3	PDS5B	13	33330035	Missense_Mutation	SNP	G	TCGA-24-1464-01A-01W-0549-09		33330035	81839843	40	13044											
GAN	8139	genome.wustl.edu	37	16	81385238	81385238	+	Missense_Mutation	SNP	T	T	C	rs377294873		TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr16:81385238T>C	ENST00000568107.2	+	2	380	c.218T>C	c.(217-219)aTt>aCt	p.I73T		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	73	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I73T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				ACTTATAAGATTGAACTTGAA	0.348																																					GBM(106;1239 1507 7582 9741 33976)											1	Substitution - Missense(1)	ovary(1)	16						T	THR/ILE	0,4404		0,0,2202	121	113	116		218	5.9	1	16		116	2,8598	2.2+/-6.3	0,2,4298	no	missense	GAN	NM_022041.3	89	0,2,6500	CC,CT,TT		0.0233,0.0,0.0154	probably-damaging	73/598	81385238	2,13002	2202	4300	6502	79942739	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.218T>C	16.37:g.81385238T>C	ENSP00000476795:p.Ile73Thr		79942739		Missense_Mutation	SNP	ENST00000568107.2	37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351618	0.82132	0.0	2.33E-4	ENSG00000127688	ENST00000248272	T	0.72167	-0.63	5.88	5.88	0.94601	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87015	0.2125	10	0.87932	D	0	.	16.3009	0.82811	0.0:0.0:0.0:1.0	.	73	Q9H2C0	GAN_HUMAN	T	73	ENSP00000248272:I73T	ENSP00000248272:I73T	I	+	2	0	GAN	79942739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.246000	0.74042	0.533000	0.62120	ATT		0.348	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			C	81385238	T	C	81385238	3	2	230	1	0	0	0	0	1	0	0	0	6232	1493	52	4	224	4	GAN	16	81385238	Missense_Mutation	SNP	T	TCGA-24-1464-01A-01W-0549-09		81385238	8969515	41	13045											
HSD17B2	3294	genome.wustl.edu	37	16	82131895	82131895	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr16:82131895C>T	ENST00000199936.4	+	5	1211	c.1018C>T	c.(1018-1020)Cca>Tca	p.P340S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	340					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.P340S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CTATTACACGCCAGGGAAAGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	16											161	141	148					16																	82131895		2201	4300	6501	80689396	SO:0001583	missense	3294				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5211	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 2"	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1018C>T	16.37:g.82131895C>T	ENSP00000199936:p.Pro340Ser		80689396	B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	c	12.98	2.099452	0.37048	.	.	ENSG00000086696	ENST00000199936	T	0.42131	0.98	5.57	3.47	0.39725	NAD(P)-binding domain (1);	0.115666	0.64402	N	0.000017	T	0.44329	0.1288	M	0.69358	2.11	0.23425	N	0.997704	P	0.39964	0.697	B	0.43194	0.411	T	0.38735	-0.9647	10	0.49607	T	0.09	.	10.4238	0.44365	0.0:0.7859:0.1351:0.079	.	340	P37059	DHB2_HUMAN	S	340	ENSP00000199936:P340S	ENSP00000199936:P340S	P	+	1	0	HSD17B2	80689396	0.649000	0.27322	0.068000	0.19968	0.003000	0.03518	1.888000	0.39708	1.460000	0.47911	0.655000	0.94253	CCA		0.483	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		T	82131895	C	T	82131895	3	4	230	1	0	0	0	0	1	0	0	0	7384	739	26	2	1036	2	HSD17B2	16	82131895	Missense_Mutation	SNP	C	TCGA-24-1464-01A-01W-0549-09	746657	82131895	8222858	42	13046											
MINK1	100130311	genome.wustl.edu	37	17	4799859	4799860	+	5'Flank	INS	-	-	G			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr17:4799859_4799860insG	ENST00000381365.3	+	0	0				C17orf107_ENST00000521575.1_5'Flank|MINK1_ENST00000347992.7_Frame_Shift_Ins_p.W1222fs|MINK1_ENST00000355280.6_Frame_Shift_Ins_p.W1251fs|MINK1_ENST00000453408.3_Frame_Shift_Ins_p.W1231fs	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107									p.E1253fs*19(1)		endometrium(2)	2						GGTGCTGCAGTGGGGGGAGATG	0.639																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								4740636	SO:0001631	upstream_gene_variant	50488			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		17.37:g.4799865_4799865dupG	Exception_encountered		4740635		Frame_Shift_Ins	INS	ENST00000381365.3	37	CCDS45591.1																																																																																				0.639	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380556.1	NM_001145536		G	4799860	-	G	4799859	6	5	230	0	1	1	1	0	0	0	0	0	9587	1696	59	0		0	MINK1	17	4799859	5'Flank	INS	-	TCGA-24-1464-01A-01W-0549-09		4799859	76395351	43	13047											
TP53	7157	genome.wustl.edu	37	17	7577565	7577565	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr17:7577565T>C	ENST00000269305.4	-	7	905	c.716A>G	c.(715-717)aAc>aGc	p.N239S	TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000420246.2_Missense_Mutation_p.N239S|TP53_ENST00000455263.2_Missense_Mutation_p.N239S|TP53_ENST00000445888.2_Missense_Mutation_p.N239S	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.N239_C242del(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)	GCAGGAACTGTTACACATGTA	0.572		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"	76	Substitution - Missense(36)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(4)|Substitution - Nonsense(1)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	biliary_tract(10)|urinary_tract(6)|lung(6)|ovary(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|oesophagus(5)|breast(5)|bone(5)|central_nervous_system(4)|large_intestine(4)|endometrium(4)|kidney(4)|stomach(3)|thyroid(1)|soft_tissue(1)|liver(1)|pancreas(1)	17											135	105	115					17																	7577565		2203	4300	6503	7518290	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.716A>G	17.37:g.7577565T>C	ENSP00000269305:p.Asn239Ser		7518290	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	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565663	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87381	2.88	0.58432	D	0.999991	D;B;D;D;D;D	0.89917	0.988;0.31;0.999;0.98;0.99;1.0	P;B;D;P;P;D	0.87578	0.826;0.104;0.981;0.815;0.891;0.998	D	0.97237	0.9888	10	0.87932	D	0	-35.9081	12.3101	0.54924	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239S;ENSP00000352610:N239S;ENSP00000269305:N239S;ENSP00000398846:N239S;ENSP00000391127:N239S;ENSP00000391478:N239S;ENSP00000425104:N107S;ENSP00000423862:N146S	ENSP00000269305:N239S	N	-	2	0	TP53	7518290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577565	T	C	7577565	3	2	230	1	0	0	0	0	1	0	0	0	16381	1725	60	4	574	4	TP53	17	7577565	Missense_Mutation	SNP	T	TCGA-24-1464-01A-01W-0549-09	2777706	7577565	73617645	44	13048											
MYH13	8735	genome.wustl.edu	37	17	10216067	10216068	+	Frame_Shift_Ins	INS	-	-	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr17:10216067_10216068insT	ENST00000418404.3	-	30	4351_4352	c.4188_4189insA	c.(4186-4191)aaactgfs	p.L1397fs	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Frame_Shift_Ins_p.L1397fs			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1397					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1397fs*74(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTGGGCCAGTTTTTTCCTAC	0.495																																																2	Insertion - Frameshift(2)	ovary(2)	17																																								10156793	SO:0001589	frameshift_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4189dupA	17.37:g.10216073_10216073dupT	ENSP00000404570:p.Leu1397fs		10156792	O95252|Q9P0U8	Frame_Shift_Ins	INS	ENST00000418404.3	37	CCDS45613.1																																																																																				0.495	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10216068	-	T	10216067	7	5	230	1	0	1	1	0	0	0	0	0	10032	1020	36	0	1671	0	MYH13	17	10216067	Frame_Shift_Ins	INS	-	TCGA-24-1464-01A-01W-0549-09	2638502	10216067	70979143	45	13049											
BECN1	8678	genome.wustl.edu	37	17	40962917	40962917	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr17:40962917T>C	ENST00000361523.4	-	12	1346	c.1214A>G	c.(1213-1215)gAc>gGc	p.D405G	CNTD1_ENST00000315066.5_3'UTR|BECN1_ENST00000590099.1_Missense_Mutation_p.D405G|BECN1_ENST00000438274.3_3'UTR	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	405					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)		p.D405G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GCCTCCTGTGTCTTCAATCTT	0.468																																																1	Substitution - Missense(1)	ovary(1)	17											76	69	72					17																	40962917		2203	4300	6503	38216443	SO:0001583	missense	8678			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1214A>G	17.37:g.40962917T>C	ENSP00000355231:p.Asp405Gly		38216443	B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920374	0.73098	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.44881	0.91	5.88	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60687	-0.7214	10	0.48119	T	0.1	.	11.9132	0.52751	0.0:0.0678:0.0:0.9322	.	405	Q14457	BECN1_HUMAN	G	405;318	ENSP00000355231:D405G	ENSP00000355231:D405G	D	-	2	0	BECN1	38216443	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.008000	0.88588	1.052000	0.40392	0.533000	0.62120	GAC		0.468	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		C	40962917	T	C	40962917	3	2	230	1	0	0	0	0	1	0	0	0	1396	1667	58	4	142	4	BECN1	17	40962917	Missense_Mutation	SNP	T	TCGA-24-1464-01A-01W-0549-09	30746850	40962917	40232293	46	13050											
BCAS3	54828	genome.wustl.edu	37	17	59161887	59161887	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr17:59161887A>T	ENST00000390652.5	+	23	2463	c.2432A>T	c.(2431-2433)gAt>gTt	p.D811V	BCAS3_ENST00000588462.1_Missense_Mutation_p.D811V|BCAS3_ENST00000588874.1_Missense_Mutation_p.D567V|BCAS3_ENST00000589222.1_Missense_Mutation_p.D796V|BCAS3_ENST00000408905.3_Missense_Mutation_p.D796V|BCAS3_ENST00000585744.1_Missense_Mutation_p.D582V|BCAS3_ENST00000407086.3_Missense_Mutation_p.D796V	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.D811V(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCAGTCTCTGATCGAAGGGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	17											67	69	69					17																	59161887		1957	4163	6120	56516669	SO:0001583	missense	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2432A>T	17.37:g.59161887A>T	ENSP00000375067:p.Asp811Val		56516669		Missense_Mutation	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064672	0.55432	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	T;T;T	0.32753	1.46;1.45;1.44	5.92	5.92	0.95590	.	0.047612	0.85682	D	0.000000	T	0.35653	0.0939	N	0.24115	0.695	0.80722	D	1	B;B;D;P;D	0.55385	0.004;0.004;0.971;0.952;0.971	B;B;P;P;P	0.55455	0.005;0.002;0.776;0.601;0.776	T	0.05699	-1.0869	10	0.32370	T	0.25	.	16.3631	0.83280	1.0:0.0:0.0:0.0	.	796;811;796;811;796	Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	V	811;796;796	ENSP00000375067:D811V;ENSP00000385323:D796V;ENSP00000386173:D796V	ENSP00000375067:D811V	D	+	2	0	BCAS3	56516669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.691000	0.91279	2.266000	0.75297	0.533000	0.62120	GAT		0.458	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		T	59161887	A	T	59161887	3	4	230	1	0	0	0	0	1	0	0	0	1352	333	12	5	2518	5	BCAS3	17	59161887	Missense_Mutation	SNP	A	TCGA-24-1464-01A-01W-0549-09	18198970	59161887	22033323	47	13051											
THOP1	7064	genome.wustl.edu	37	19	2794857	2794857	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr19:2794857G>A	ENST00000307741.6	+	3	528	c.325G>A	c.(325-327)Gac>Aac	p.D109N	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	109					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.D109N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGAGTTCGACGTGGAGAT	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											134	114	120					19																	2794857		2203	4300	6503	2745857	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.325G>A	19.37:g.2794857G>A	ENSP00000304467:p.Asp109Asn		2745857	B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591562	0.66219	.	.	ENSG00000172009	ENST00000307741	T	0.07688	3.17	5.25	5.25	0.73442	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	L	0.46157	1.445	0.80722	D	1	P	0.42584	0.784	B	0.29353	0.101	T	0.14811	-1.0459	10	0.46703	T	0.11	-59.3907	17.405	0.87471	0.0:0.0:1.0:0.0	.	109	P52888	THOP1_HUMAN	N	109	ENSP00000304467:D109N	ENSP00000304467:D109N	D	+	1	0	THOP1	2745857	1.000000	0.71417	0.971000	0.41717	0.774000	0.43823	9.003000	0.93577	2.451000	0.82905	0.561000	0.74099	GAC		0.567	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			A	2794857	G	A	2794857	3	1	230	1	0	0	0	0	1	0	0	0	15871	1058	37	1	335	1	THOP1	19	2794857	Missense_Mutation	SNP	G	TCGA-24-1464-01A-01W-0549-09		2794857	56334126	48	13052											
C19orf48	84798	genome.wustl.edu	37	19	51301634	51301634	+	Silent	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chr19:51301634C>T	ENST00000598463.1	-	5	1170	c.72G>A	c.(70-72)ggG>ggA	p.G24G	C19orf48_ENST00000345523.4_Silent_p.G24G|SNORD88A_ENST00000408314.1_RNA|SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000596655.1_Silent_p.G24G|C19orf48_ENST00000391812.1_Silent_p.G24G|C19orf48_ENST00000595794.1_5'Flank			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	24								p.G24G(1)		endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCCTGGCGGGCCCTGGCACCA	0.617																																																1	Substitution - coding silent(1)	ovary(1)	19											89	87	88					19																	51301634		2203	4300	6503	55993446	SO:0001819	synonymous_variant	84798			BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"multidrug resistance-related protein"					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.72G>A	19.37:g.51301634C>T			55993446		Silent	SNP	ENST00000598463.1	37	CCDS12803.1																																																																																				0.617	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712		T	51301634	C	T	51301634	2	4	230	1	0	0	0	0	0	0	0	1	1931	726	26	2		2	C19orf48	19	51301634	Silent	SNP	C	TCGA-24-1464-01A-01W-0549-09	48506777	51301634	7827349	49	13053											
DMD	1756	genome.wustl.edu	37	X	32583978	32583978	+	Silent	SNP	T	T	C			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chrX:32583978T>C	ENST00000357033.4	-	16	2039	c.1833A>G	c.(1831-1833)gaA>gaG	p.E611E	DMD_ENST00000288447.4_Silent_p.E603E|DMD_ENST00000378677.2_Silent_p.E607E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	611					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E606E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTTTTTCTTTTCTAGATCCG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	X											136	109	118					X																	32583978		2202	4300	6502	32493899	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1833A>G	X.37:g.32583978T>C			32493899	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																				0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	32583978	T	C	32583978	2	2	230	1	0	0	0	0	0	0	0	1	4580	1838	64	4		4	DMD	23	32583978	Silent	SNP	T	TCGA-24-1464-01A-01W-0549-09		32583978	122686582	50	13054											
SMC1A	8243	genome.wustl.edu	37	X	53423416	53423416	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chrX:53423416C>T	ENST00000322213.4	-	17	2811	c.2684G>A	c.(2683-2685)cGt>cAt	p.R895H		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	895					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R895H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GAGTTTCTTACGAATCTCCTC	0.527																																																1	Substitution - Missense(1)	ovary(1)	X											174	132	147					X																	53423416		2203	4300	6503	53440141	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2684G>A	X.37:g.53423416C>T	ENSP00000323421:p.Arg895His		53440141	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762857	0.89932	.	.	ENSG00000072501	ENST00000322213	T	0.78707	-1.2	5.01	5.01	0.66863	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.89378	0.6698	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91447	0.5178	10	0.87932	D	0	.	16.4457	0.83928	0.0:1.0:0.0:0.0	.	895	Q14683	SMC1A_HUMAN	H	895	ENSP00000323421:R895H	ENSP00000323421:R895H	R	-	2	0	SMC1A	53440141	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.578000	0.67450	2.225000	0.72522	0.529000	0.55759	CGT		0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		T	53423416	C	T	53423416	3	4	230	1	0	0	0	0	1	0	0	0	14784	536	19	1	1053	1	SMC1A	23	53423416	Missense_Mutation	SNP	C	TCGA-24-1464-01A-01W-0549-09	20839438	53423416	101847144	51	13055											
KIAA2022	340533	genome.wustl.edu	37	X	73965420	73965420	+	Silent	SNP	C	C	T			TCGA-24-1464-01A-01W-0549-09	TCGA-24-1464-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	01ec3cbb-c68a-4874-b396-f5e34876e04a	88338ed9-553b-40df-a809-10f5c0e38a8c	g.chrX:73965420C>T	ENST00000055682.6	-	2	677	c.66G>A	c.(64-66)ggG>ggA	p.G22G		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	22					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.G22G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTCTTTGACCCCATTAATCA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	X											102	86	92					X																	73965420		2202	4299	6501	73882145	SO:0001819	synonymous_variant	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.66G>A	X.37:g.73965420C>T			73882145	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	CCDS35337.1																																																																																				0.358	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73965420	C	T	73965420	2	4	230	1	0	0	0	0	0	0	0	1	8269	610	22	2		2	KIAA2022	23	73965420	Silent	SNP	C	TCGA-24-1464-01A-01W-0549-09	20542004	73965420	81305140	52	13056											
LYPLA2	11313	broad.mit.edu	37	1	24121071	24121071	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr1:24121071T>C	ENST00000374514.3	+	9	933	c.626T>C	c.(625-627)aTg>aCg	p.M209T	LYPLA2_ENST00000374501.1_Missense_Mutation_p.M142T|LYPLA2_ENST00000374502.3_3'UTR|LYPLA2_ENST00000374503.3_Silent_p.H167H|LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000400061.1_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	209					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.M209T(1)		endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCGGGTGTCATGCACAGCTCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											78	70	73					1																	24121071		2203	4300	6503	23993658	SO:0001583	missense	11313			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.626T>C	1.37:g.24121071T>C	ENSP00000363638:p.Met209Thr		23993658	Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	CCDS241.1	.	.	.	.	.	.	.	.	.	.	T	2.206	-0.381948	0.04966	.	.	ENSG00000011009	ENST00000374514;ENST00000374506;ENST00000374501	T;T	0.20881	2.04;2.04	4.9	4.9	0.64082	Phospholipase/carboxylesterase/thioesterase (1);	0.131358	0.64402	D	0.000002	T	0.16342	0.0393	N	0.21142	0.635	0.80722	D	1	B;B	0.25904	0.043;0.137	B;B	0.32805	0.153;0.062	T	0.08146	-1.0736	10	0.15066	T	0.55	.	14.5106	0.67784	0.0:0.0:0.0:1.0	.	186;209	E9PH41;O95372	.;LYPA2_HUMAN	T	209;186;142	ENSP00000363638:M209T;ENSP00000363625:M142T	ENSP00000363625:M142T	M	+	2	0	LYPLA2	23993658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.550000	0.45811	1.840000	0.53500	0.379000	0.24179	ATG		0.612	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			C	24121071	T	C	24121071	3	2	231	1	0	0	0	0	1	0	0	0	9117	1464	51	4	656	4	LYPLA2	1	24121071	Missense_Mutation	SNP	T	TCGA-24-1466-01A-01W-0545-08		24121071	225129550	1	13057											
CD1B	910	broad.mit.edu	37	1	158298760	158298760	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr1:158298760G>A	ENST00000368168.3	-	5	1038	c.931C>T	c.(931-933)Cct>Tct	p.P311S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	311					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P311S(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGCAAGGAAGGCACTATTATT	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											115	106	109					1																	158298760		2203	4300	6503	156565384	SO:0001583	missense	910			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.931C>T	1.37:g.158298760G>A	ENSP00000357150:p.Pro311Ser		156565384	Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.053|8.053	0.766323|0.766323	0.15983|0.15983	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.01272	.|5.07	4.05|4.05	1.93|1.93	0.25924|0.25924	.|.	.|0.724348	.|0.11957	.|N	.|0.513139	T|T	0.01061|0.01061	0.0035|0.0035	L|L	0.33668|0.33668	1.02|1.02	0.09310|0.09310	N|N	1|1	.|B;D	.|0.89917	.|0.007;1.0	.|B;D	.|0.64321	.|0.007;0.924	T|T	0.53578|0.53578	-0.8419|-0.8419	5|10	.|0.14656	.|T	.|0.56	-6.4051|-6.4051	8.3298|8.3298	0.32180|0.32180	0.0:0.0:0.57:0.43|0.0:0.0:0.57:0.43	.|.	.|311;256	.|P29016;P29016-2	.|CD1B_HUMAN;.	V|S	223|311	.|ENSP00000357150:P311S	.|ENSP00000357150:P311S	A|P	-|-	2|1	0|0	CD1B|CD1B	156565384|156565384	0.000000|0.000000	0.05858|0.05858	0.365000|0.365000	0.25901|0.25901	0.130000|0.130000	0.20726|0.20726	0.302000|0.302000	0.19192|0.19192	1.011000|1.011000	0.39340|0.39340	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.418	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		A	158298760	G	A	158298760	3	1	231	1	0	0	0	0	1	0	0	0	2975	1203	42	2	78	2	CD1B	1	158298760	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08	134177689	158298760	90951861	2	13058											
DPT	1805	broad.mit.edu	37	1	168683529	168683529	+	Missense_Mutation	SNP	C	C	G	rs143369045	byFrequency	TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr1:168683529C>G	ENST00000367817.3	-	2	450	c.361G>C	c.(361-363)Gag>Cag	p.E121Q		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	121	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E121Q(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					AGCACTGACTCGAAGTAGCGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											88	78	82					1																	168683529		2203	4300	6503	166950153	SO:0001583	missense	1805			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.361G>C	1.37:g.168683529C>G	ENSP00000356791:p.Glu121Gln		166950153	A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445989	0.84101	.	.	ENSG00000143196	ENST00000367817	T	0.44881	0.91	5.81	5.81	0.92471	.	0.100428	0.64402	D	0.000003	T	0.39545	0.1082	L	0.53249	1.67	0.42268	D	0.992047	D	0.53619	0.961	P	0.53401	0.725	T	0.12167	-1.0558	9	0.26408	T	0.33	-4.618	15.0533	0.71891	0.0:0.8573:0.1427:0.0	.	121	Q07507	DERM_HUMAN	Q	121	ENSP00000356791:E121Q	ENSP00000356791:E121Q	E	-	1	0	DPT	166950153	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.248000	0.58760	2.746000	0.94184	0.655000	0.94253	GAG		0.542	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		G	168683529	C	G	168683529	3	3	231	1	0	0	0	0	1	0	0	0	4739	893	31	3	256	3	DPT	1	168683529	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08	10384769	168683529	80567092	3	13059											
HMCN1	83872	broad.mit.edu	37	1	185833716	185833716	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr1:185833716C>A	ENST00000271588.4	+	3	683	c.454C>A	c.(454-456)Ctc>Atc	p.L152I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L152I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	152	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L152I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATTACCGGCTCACCCATGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											106	97	100					1																	185833716		2203	4300	6503	184100339	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.454C>A	1.37:g.185833716C>A	ENSP00000271588:p.Leu152Ile		184100339	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626180	0.87560	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.97620	-4.46;-4.46	5.43	4.5	0.54988	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	M	0.85542	2.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98368	1.0552	10	0.51188	T	0.08	.	14.5537	0.68086	0.0:0.9284:0.0:0.0715	.	152	Q96RW7	HMCN1_HUMAN	I	152	ENSP00000271588:L152I;ENSP00000356462:L152I	ENSP00000271588:L152I	L	+	1	0	HMCN1	184100339	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	4.938000	0.63519	2.533000	0.85409	0.655000	0.94253	CTC		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	185833716	C	A	185833716	3	1	231	1	0	0	0	0	1	0	0	0	7220	797	28	3	464	3	HMCN1	1	185833716	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08	17150187	185833716	63416905	4	13060											
DENND1B	163486	broad.mit.edu	37	1	197481075	197481075	+	IGR	SNP	C	C	T			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr1:197481075C>T								CRB1 (33490 upstream) : DENND1B (40309 downstream)														p.?(1)									AGAAGATAACCTGAAGAAAAA	0.368																																																1	Unknown(1)	ovary(1)	1											55	56	55					1																	197481075		2203	4297	6500	195747698	SO:0001628	intergenic_variant	163486																															1.37:g.197481075C>T			195747698		Splice_Site	SNP		37		.	.	.	.	.	.	.	.	.	.	C	13.93	2.382758	0.42207	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.844	0.96702	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND1B	195747698	1.000000	0.71417	0.630000	0.29268	0.110000	0.19582	6.982000	0.76173	2.690000	0.91761	0.650000	0.86243	.	0	0.368									T	197481075	C	T	197481075	1	4	231	0	1	0	0	0	0	0	0	0	4427	695	24	2		2	DENND1B	1	197481075	IGR	SNP	C	TCGA-24-1466-01A-01W-0545-08	11647359	197481075	51769546	5	13061											
NAV1	89796	broad.mit.edu	37	1	201749593	201749596	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	CAGA	CAGA	-	-	CAGA	CAGA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr1:201749593_201749596delCAGA	ENST00000367296.4	+	4	1691_1694	c.1271_1274delCAGA	c.(1270-1275)tcagacfs	p.SD424fs	NAV1_ENST00000367297.4_Frame_Shift_Del_p.SD424fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Del_p.SD33fs|NAV1_ENST00000367302.1_Frame_Shift_Del_p.SD437fs|NAV1_ENST00000295624.6_Frame_Shift_Del_p.SD424fs|NAV1_ENST00000367300.3_Frame_Shift_Del_p.SD424fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	424					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.D425fs*29(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGCGATGCCTCAGACAATCTCAGT	0.485																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								200016219	SO:0001589	frameshift_variant	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1271_1274delCAGA	1.37:g.201749593_201749596delCAGA	ENSP00000356265:p.Ser424fs		200016216	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Del	DEL	ENST00000367296.4	37	CCDS1414.2																																																																																				0.485	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		-	201749596	CAGA	-	201749593	7	5	231	1	0	1	0	1	0	0	0	0	10183	838	29	0	1342	0	NAV1	1	201749593	Frame_Shift_Del	DEL	CAGA	TCGA-24-1466-01A-01W-0545-08	4268518	201749593	47501028	6	13062											
IQSEC1	9922	broad.mit.edu	37	3	12957152	12957152	+	Missense_Mutation	SNP	T	T	C	rs145903276		TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr3:12957152T>C	ENST00000273221.4	-	7	2360	c.2144A>G	c.(2143-2145)aAt>aGt	p.N715S		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	715					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.N715S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGGTCCTCATTGGTCTTTAG	0.572																																																1	Substitution - Missense(1)	ovary(1)	3						T	SER/ASN,SER/ASN	0,4406		0,0,2203	214	169	184		2102,2144	2.1	0.8	3	dbSNP_134	184	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IQSEC1	NM_001134382.1,NM_014869.4	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	701/1115,715/964	12957152	1,13005	2203	4300	6503	12932152	SO:0001583	missense	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2144A>G	3.37:g.12957152T>C	ENSP00000273221:p.Asn715Ser		12932152	O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522258	0.44866	0.0	1.16E-4	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.12774	2.69;2.65	4.54	2.12	0.27331	SEC7-like, alpha orthogonal bundle (1);SEC7-like (1);	0.091794	0.64402	N	0.000001	T	0.10380	0.0254	.	.	.	0.53688	D	0.999972	B;B;B	0.19706	0.005;0.038;0.001	B;B;B	0.17979	0.015;0.02;0.006	T	0.13764	-1.0497	9	0.41790	T	0.15	.	8.3098	0.32064	0.0:0.1705:0.0:0.8295	.	701;701;715	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	S	715;701;701	ENSP00000273221:N715S;ENSP00000402299:N701S	ENSP00000273221:N715S	N	-	2	0	IQSEC1	12932152	1.000000	0.71417	0.804000	0.32291	0.987000	0.75469	3.519000	0.53458	0.221000	0.20879	0.533000	0.62120	AAT		0.572	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		C	12957152	T	C	12957152	3	2	231	1	0	0	0	0	1	0	0	0	7817	1493	52	4	1324	4	IQSEC1	3	12957152	Missense_Mutation	SNP	T	TCGA-24-1466-01A-01W-0545-08		12957152	185065278	7	13063											
SEMA3G	56920	broad.mit.edu	37	3	52472055	52472055	+	Missense_Mutation	SNP	C	C	T	rs142528178	byFrequency	TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr3:52472055C>T	ENST00000231721.2	-	14	1669	c.1670G>A	c.(1669-1671)cGc>cAc	p.R557H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	557					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R557H(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCGGAACCGGCGCTTGCCAAG	0.682													C|||	9	0.00179712	0.0045	0	5008	,	,		16566	0		0	False		,,,				2504	0.0031															1	Substitution - Missense(1)	ovary(1)	3						C	HIS/ARG	23,4377		0,23,2177	33	32	32		1670	5.1	1	3	dbSNP_134	32	0,8568		0,0,4284	yes	missense	SEMA3G	NM_020163.1	29	0,23,6461	TT,TC,CC		0.0,0.5227,0.1774	possibly-damaging	557/783	52472055	23,12945	2200	4284	6484	52447095	SO:0001583	missense	56920				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1670G>A	3.37:g.52472055C>T	ENSP00000231721:p.Arg557His		52447095	Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	CCDS2856.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	22.5	4.299248	0.81025	0.005227	0.0	ENSG00000010319	ENST00000231721	T	0.23348	1.91	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	M	0.89353	3.025	0.58432	D	0.999997	P	0.35507	0.506	B	0.37780	0.258	T	0.46596	-0.9180	10	0.56958	D	0.05	.	16.8509	0.85993	0.0:1.0:0.0:0.0	.	557	Q9NS98	SEM3G_HUMAN	H	557	ENSP00000231721:R557H	ENSP00000231721:R557H	R	-	2	0	SEMA3G	52447095	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.343000	0.59348	2.662000	0.90505	0.655000	0.94253	CGC		0.682	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		T	52472055	C	T	52472055	3	4	231	1	0	0	0	0	1	0	0	0	14033	768	27	1	690	1	SEMA3G	3	52472055	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08	39514903	52472055	145550375	8	13064											
SI	6476	broad.mit.edu	37	3	164785131	164785131	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr3:164785131G>A	ENST00000264382.3	-	6	694	c.632C>T	c.(631-633)aCt>aTt	p.T211I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	211	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.T211I(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CACTTACAAAGTTTTACCGTT	0.299										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	ovary(1)	3											64	63	63					3																	164785131		2202	4298	6500	166267825	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.632C>T	3.37:g.164785131G>A	ENSP00000264382:p.Thr211Ile		166267825	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0.651	-0.809576	0.02798	.	.	ENSG00000090402	ENST00000264382	T	0.27890	1.64	5.25	-3.05	0.05396	Glycoside hydrolase-type carbohydrate-binding (1);	1.050670	0.07297	N	0.873500	T	0.13372	0.0324	N	0.02854	-0.475	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29852	-0.9998	10	0.39692	T	0.17	.	11.1529	0.48469	0.613:0.0:0.387:0.0	.	211	P14410	SUIS_HUMAN	I	211	ENSP00000264382:T211I	ENSP00000264382:T211I	T	-	2	0	SI	166267825	0.012000	0.17670	0.005000	0.12908	0.003000	0.03518	0.258000	0.18387	-0.734000	0.04843	-2.051000	0.00406	ACT		0.299	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164785131	G	A	164785131	3	1	231	1	0	0	0	0	1	0	0	0	14300	1029	36	2	5023	2	SI	3	164785131	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08	112313076	164785131	33237299	9	13065											
PIGG	54872	broad.mit.edu	37	4	515043	515043	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr4:515043G>A	ENST00000453061.2	+	7	1419	c.1313G>A	c.(1312-1314)gGg>gAg	p.G438E	PIGG_ENST00000509768.1_Missense_Mutation_p.G349E|PIGG_ENST00000503111.1_Intron|PIGG_ENST00000296306.7_Intron|PIGG_ENST00000504346.1_Missense_Mutation_p.G349E|PIGG_ENST00000310340.5_Intron|PIGG_ENST00000383028.4_Missense_Mutation_p.G305E|PIGG_ENST00000536264.1_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	438					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ATGATGGTGGGGACTGTCGTG	0.463																																																1	Unknown(1)	ovary(1)	4											107	80	89					4																	515043		2203	4300	6503	505043	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1313G>A	4.37:g.515043G>A	ENSP00000415203:p.Gly438Glu		505043	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481637	0.84747	.	.	ENSG00000174227	ENST00000453061;ENST00000504346;ENST00000383028;ENST00000509768	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.82	5.82	0.92795	.	.	.	.	.	T	0.68201	0.2975	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.941;0.941	T	0.66532	-0.5900	8	.	.	.	.	17.5831	0.87973	0.0:0.0:1.0:0.0	.	305;349;438	Q5H8A4-3;D6RFE8;Q5H8A4	.;.;PIGG_HUMAN	E	438;349;305;349	ENSP00000415203:G438E;ENSP00000424800:G349E;ENSP00000372494:G305E;ENSP00000421550:G349E	.	G	+	2	0	PIGG	505043	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.317000	0.79018	2.761000	0.94854	0.655000	0.94253	GGG		0.463	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		A	515043	G	A	515043	3	1	231	1	0	0	0	0	1	0	0	0	11888	1232	43	2	1339	2	PIGG	4	515043	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08		515043	190639233	10	13066											
CDH18	1016	broad.mit.edu	37	5	19483573	19483573	+	Silent	SNP	A	A	T			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr5:19483573A>T	ENST00000507958.1	-	14	2709	c.1719T>A	c.(1717-1719)ggT>ggA	p.G573G	CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Silent_p.G573G|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000274170.4_Silent_p.G573G			Q13634	CAD18_HUMAN	cadherin 18, type 2	573	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G573G(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGGGATTCCACCATCAGAGA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	5											91	77	81					5																	19483573		2203	4300	6503	19519330	SO:0001819	synonymous_variant	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1719T>A	5.37:g.19483573A>T			19519330	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.512	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19483573	A	T	19483573	2	4	231	1	0	0	0	0	0	0	0	1	3103	146	6	5		5	CDH18	5	19483573	Silent	SNP	A	TCGA-24-1466-01A-01W-0545-08		19483573	161431687	11	13067											
EPB41L4A	64097	broad.mit.edu	37	5	111504701	111504701	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr5:111504701G>A	ENST00000261486.5	-	21	2117	c.1841C>T	c.(1840-1842)tCg>tTg	p.S614L	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	614						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.S614L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTCACTTCCGAGAGAACTGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	5											137	137	137					5																	111504701		2082	4209	6291	111532600	SO:0001583	missense	64097			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1841C>T	5.37:g.111504701G>A	ENSP00000261486:p.Ser614Leu		111532600	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230828	0.95207	.	.	ENSG00000129595	ENST00000261486	D	0.83673	-1.75	5.86	5.86	0.93980	.	0.248877	0.28448	U	0.015305	D	0.87321	0.6148	L	0.29908	0.895	0.46356	D	0.999003	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.88248	0.2914	10	0.87932	D	0	.	18.9573	0.92664	0.0:0.0:1.0:0.0	.	614;241	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	L	614	ENSP00000261486:S614L	ENSP00000261486:S614L	S	-	2	0	EPB41L4A	111532600	1.000000	0.71417	0.965000	0.40720	0.957000	0.61999	7.300000	0.78841	2.777000	0.95525	0.591000	0.81541	TCG		0.488	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			A	111504701	G	A	111504701	3	1	231	1	0	0	0	0	1	0	0	0	5155	1059	37	1	231	1	EPB41L4A	5	111504701	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08	92021128	111504701	69410559	12	13068											
AFF4	27125	broad.mit.edu	37	5	132270224	132270224	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr5:132270224G>C	ENST00000265343.5	-	3	912	c.533C>G	c.(532-534)tCt>tGt	p.S178C	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.S178C	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	178	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S178C(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGGCTGGAAGAACGTGATTT	0.473																																					Ovarian(126;889 1733 2942 10745 11605)											1	Substitution - Missense(1)	ovary(1)	5											144	143	143					5																	132270224		2203	4300	6503	132298123	SO:0001583	missense	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.533C>G	5.37:g.132270224G>C	ENSP00000265343:p.Ser178Cys		132298123	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043714	0.75732	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.64991	-0.13;-0.13	5.86	5.86	0.93980	.	0.102855	0.64402	D	0.000002	T	0.78007	0.4216	L	0.56769	1.78	0.54753	D	0.999986	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.954	T	0.77563	-0.2541	10	0.62326	D	0.03	-9.7935	20.1802	0.98196	0.0:0.0:1.0:0.0	.	178;178;178	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	C	178	ENSP00000265343:S178C;ENSP00000367858:S178C	ENSP00000265343:S178C	S	-	2	0	AFF4	132298123	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.539000	0.67199	2.777000	0.95525	0.655000	0.94253	TCT		0.473	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		C	132270224	G	C	132270224	3	2	231	1	0	0	0	0	1	0	0	0	359	942	33	3	3034	3	AFF4	5	132270224	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08	20765523	132270224	48645036	13	13069											
GCNT2	2651	broad.mit.edu	37	6	10556700	10556700	+	Intron	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr6:10556700G>A	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.S15N			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.S15N(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCTGTCTCTAGTGTAATTATT	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											114	109	111					6																	10556700		2203	4300	6503	10664686	SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26631G>A	6.37:g.10556700G>A			10664686		Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	6.142	0.394426	0.11638	.	.	ENSG00000111846	ENST00000316170	T	0.10860	2.83	5.05	1.91	0.25777	.	.	.	.	.	T	0.03477	0.0100	L	0.41492	1.28	0.09310	N	0.999999	B	0.19583	0.037	B	0.19391	0.025	T	0.42481	-0.9449	9	0.15499	T	0.54	.	16.4739	0.84127	0.0:0.5431:0.4569:0.0	.	15	Q06430	GNT2B_HUMAN	N	15	ENSP00000314844:S15N	ENSP00000314844:S15N	S	+	2	0	GCNT2	10664686	0.001000	0.12720	0.001000	0.08648	0.091000	0.18340	0.503000	0.22610	0.602000	0.29896	0.655000	0.94253	AGT		0.393	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		A	10556700	G	A	10556700	1	1	231	0	1	0	0	0	0	0	0	0	6301	1029	36	2		2	GCNT2	6	10556700	Intron	SNP	G	TCGA-24-1466-01A-01W-0545-08		10556700	160558367	14	13070											
HIST1H3B	8358	broad.mit.edu	37	6	26031939	26031939	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr6:26031939C>T	ENST00000244661.2	-	1	349	c.350G>A	c.(349-351)cGa>cAa	p.R117Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	117					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R117P(1)|p.R117Q(1)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AATAGTCACTCGCTTAGCATG	0.517																																																2	Substitution - Missense(2)	cervix(1)|ovary(1)	6											76	77	77					6																	26031939		2203	4300	6503	26139918	SO:0001583	missense	8358			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.350G>A	6.37:g.26031939C>T	ENSP00000244661:p.Arg117Gln		26139918	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.026253	0.54683	.	.	ENSG00000124693	ENST00000244661	T	0.68331	-0.32	5.17	5.17	0.71159	.	.	.	.	.	T	0.75961	0.3921	.	.	.	0.37251	D	0.906557	.	.	.	.	.	.	T	0.79895	-0.1610	6	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	Q	117	ENSP00000244661:R117Q	ENSP00000244661:R117Q	R	-	2	0	HIST1H3B	26139918	1.000000	0.71417	0.990000	0.47175	0.007000	0.05969	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	CGA		0.517	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		T	26031939	C	T	26031939	3	4	231	1	0	0	0	0	1	0	0	0	7156	884	31	1	64	1	HIST1H3B	6	26031939	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08	15475239	26031939	145083128	15	13071											
GPR115	221393	broad.mit.edu	37	6	47680169	47680169	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr6:47680169A>G	ENST00000283303.2	+	5	635	c.377A>G	c.(376-378)gAg>gGg	p.E126G	GPR115_ENST00000327753.3_Missense_Mutation_p.E126G|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.E183G	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	126					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E126G(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CGAGCTCCAGAGACCATTGAG	0.428																																					GBM(22;431 510 9010 26644 32828)											1	Substitution - Missense(1)	ovary(1)	6											153	142	146					6																	47680169		2203	4300	6503	47788128	SO:0001583	missense	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.377A>G	6.37:g.47680169A>G	ENSP00000283303:p.Glu126Gly		47788128	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	A	10.94	1.494227	0.26774	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.35605	1.51;1.3;1.3	5.78	3.27	0.37495	.	0.729150	0.12830	N	0.435713	T	0.09335	0.0230	L	0.38838	1.175	0.18873	N	0.999989	B	0.10296	0.003	B	0.04013	0.001	T	0.35624	-0.9781	10	0.20046	T	0.44	-4.0661	6.1364	0.20235	0.6708:0.1624:0.0:0.1668	.	126	Q8IZF3	GP115_HUMAN	G	183;126;126	ENSP00000360264:E183G;ENSP00000328319:E126G;ENSP00000283303:E126G	ENSP00000283303:E126G	E	+	2	0	GPR115	47788128	0.236000	0.23804	0.111000	0.21465	0.007000	0.05969	2.364000	0.44187	0.397000	0.25310	0.533000	0.62120	GAG		0.428	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		G	47680169	A	G	47680169	3	3	231	1	0	0	0	0	1	0	0	0	6632	304	11	4	391	4	GPR115	6	47680169	Missense_Mutation	SNP	A	TCGA-24-1466-01A-01W-0545-08	21648230	47680169	123434898	16	13072											
FAM83B	222584	broad.mit.edu	37	6	54804566	54804566	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr6:54804566T>C	ENST00000306858.7	+	5	913	c.797T>C	c.(796-798)gTt>gCt	p.V266A		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	266								p.V266A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGACAACTTGTTGAGTCCTTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											93	92	92					6																	54804566		2203	4300	6503	54912525	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.797T>C	6.37:g.54804566T>C	ENSP00000304078:p.Val266Ala		54912525	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818248	0.71028	.	.	ENSG00000168143	ENST00000306858	T	0.16324	2.35	5.42	5.42	0.78866	.	0.063510	0.64402	D	0.000007	T	0.30792	0.0776	M	0.63169	1.94	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.03413	-1.1039	10	0.56958	D	0.05	-25.3038	15.767	0.78135	0.0:0.0:0.0:1.0	.	266	Q5T0W9	FA83B_HUMAN	A	266	ENSP00000304078:V266A	ENSP00000304078:V266A	V	+	2	0	FAM83B	54912525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.184000	0.69523	0.482000	0.46254	GTT		0.383	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		C	54804566	T	C	54804566	3	2	231	1	0	0	0	0	1	0	0	0	5634	1725	60	4	811	4	FAM83B	6	54804566	Missense_Mutation	SNP	T	TCGA-24-1466-01A-01W-0545-08	7124397	54804566	116310501	17	13073											
KCNQ5	56479	broad.mit.edu	37	6	73787150	73787150	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr6:73787150G>A	ENST00000370398.1	+	4	831	c.722G>A	c.(721-723)cGc>cAc	p.R241H	KCNQ5_ENST00000403813.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R241H|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R241H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R241H|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R241H	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	241					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R241H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CAGATCCTCCGCATGGTGCGC	0.443																																					GBM(142;1375 1859 14391 23261 44706)											1	Substitution - Missense(1)	ovary(1)	6											85	80	82					6																	73787150		2203	4300	6503	73843871	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.722G>A	6.37:g.73787150G>A	ENSP00000359425:p.Arg241His		73843871	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487480	0.96323	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.95187	3.635	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.992;0.996;0.987;0.995;0.997;0.99	D	0.98492	1.0610	10	0.87932	D	0	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	241;241;241;241;241;241	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	H	241	ENSP00000345055:R241H;ENSP00000347326:R241H;ENSP00000359425:R241H;ENSP00000359419:R241H;ENSP00000385501:R241H;ENSP00000347853:R241H;ENSP00000384453:R241H;ENSP00000409861:R241H	ENSP00000345055:R241H	R	+	2	0	KCNQ5	73843871	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	CGC		0.443	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		A	73787150	G	A	73787150	3	1	231	1	0	0	0	0	1	0	0	0	8086	1087	38	1	736	1	KCNQ5	6	73787150	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08	18982584	73787150	97327917	18	13074											
FIGNL1	63979	broad.mit.edu	37	7	50514933	50514933	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr7:50514933T>A	ENST00000419119.1	-	2	1606	c.53A>T	c.(52-54)tAc>tTc	p.Y18F	FIGNL1_ENST00000395556.2_Missense_Mutation_p.Y18F|FIGNL1_ENST00000435566.1_Missense_Mutation_p.Y18F|FIGNL1_ENST00000356889.4_Missense_Mutation_p.Y18F|FIGNL1_ENST00000433017.1_Missense_Mutation_p.Y18F			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	18					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.Y18F(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AATTGCGAAGTAATTCTTCTG	0.418																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	7											53	44	47					7																	50514933		2203	4300	6503	50482427	SO:0001583	missense	63979			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.53A>T	7.37:g.50514933T>A	ENSP00000410811:p.Tyr18Phe		50482427	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665195	0.47677	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000435566;ENST00000436590;ENST00000422854;ENST00000440350;ENST00000420829;ENST00000448788	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.36	4.2	0.49525	.	0.142095	0.47852	D	0.000219	T	0.22551	0.0544	M	0.64997	1.995	0.27919	N	0.938319	D	0.53619	0.961	B	0.43413	0.419	T	0.18147	-1.0346	10	0.56958	D	0.05	-10.9752	7.4524	0.27246	0.0:0.0727:0.1427:0.7847	.	18	Q6PIW4	FIGL1_HUMAN	F	18	ENSP00000349356:Y18F;ENSP00000378924:Y18F;ENSP00000399997:Y18F;ENSP00000410811:Y18F;ENSP00000394070:Y18F;ENSP00000403012:Y18F;ENSP00000388471:Y18F	ENSP00000349356:Y18F	Y	-	2	0	FIGNL1	50482427	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	3.381000	0.52455	0.969000	0.38237	0.460000	0.39030	TAC		0.418	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		A	50514933	T	A	50514933	3	1	231	1	0	0	0	0	1	0	0	0	5892	1638	57	5	1975	5	FIGNL1	7	50514933	Missense_Mutation	SNP	T	TCGA-24-1466-01A-01W-0545-08		50514933	108623730	19	13075											
COBL	23242	broad.mit.edu	37	7	51096337	51096337	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr7:51096337T>G	ENST00000265136.7	-	10	2621	c.2456A>C	c.(2455-2457)aAg>aCg	p.K819T	COBL_ENST00000395542.2_Missense_Mutation_p.K901T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	819					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.K819T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTGGGCAGACTTCTGCTGGGG	0.652																																					NSCLC(189;2119 2138 12223 30818 34679)											1	Substitution - Missense(1)	ovary(1)	7											53	56	55					7																	51096337		2203	4300	6503	51063831	SO:0001583	missense	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2456A>C	7.37:g.51096337T>G	ENSP00000265136:p.Lys819Thr		51063831	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.996|0.996	-0.692306|-0.692306	0.03303|0.03303	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542|ENST00000457306	T;T;T;T|.	0.12879|.	2.66;2.66;2.65;2.64|.	3.83|3.83	-0.242|-0.242	0.13039|0.13039	.|.	0.702099|.	0.11916|.	N|.	0.517125|.	T|T	0.16128|0.16128	0.0388|0.0388	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.22211|.	0.004;0.004;0.0;0.003;0.066|.	B;B;B;B;B|.	0.24006|.	0.008;0.005;0.0;0.001;0.05|.	T|T	0.23226|0.23226	-1.0194|-1.0194	10|6	0.15066|0.87932	T|D	0.55|0	.|.	5.688|5.688	0.17813|0.17813	0.0:0.0944:0.3224:0.5832|0.0:0.0944:0.3224:0.5832	.|.	819;876;819;901;361|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	T|R	819;711;704;901|265	ENSP00000265136:K819T;ENSP00000401204:K711T;ENSP00000413498:K704T;ENSP00000378912:K901T|.	ENSP00000265136:K819T|ENSP00000397300:S265R	K|S	-|-	2|1	0|0	COBL|COBL	51063831|51063831	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.007000|0.007000	0.05969|0.05969	-0.145000|-0.145000	0.10265|0.10265	-0.031000|-0.031000	0.13781|0.13781	0.460000|0.460000	0.39030|0.39030	AAG|AGT		0.652	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		G	51096337	T	G	51096337	3	3	231	1	0	0	0	0	1	0	0	0	3653	1609	56	5	1345	5	COBL	7	51096337	Missense_Mutation	SNP	T	TCGA-24-1466-01A-01W-0545-08	581404	51096337	108042326	20	13076											
AKAP9	10142	broad.mit.edu	37	7	91712529	91712529	+	Missense_Mutation	SNP	G	G	T	rs371753464		TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr7:91712529G>T	ENST00000359028.2	+	34	8467	c.8242G>T	c.(8242-8244)Gtt>Ttt	p.V2748F	AKAP9_ENST00000358100.2_Missense_Mutation_p.V2748F|AKAP9_ENST00000356239.3_Missense_Mutation_p.V2736F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2748	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.V2736F(1)|p.V2748F(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTAAGCCAAGTTAGGGATCA	0.368			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	ovary(2)	7											60	59	59					7																	91712529		2203	4300	6503	91550465	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8242G>T	7.37:g.91712529G>T	ENSP00000351922:p.Val2748Phe		91550465	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	11.76	1.733421	0.30684	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	4.8	2.82	0.32997	.	0.220262	0.23103	N	0.051891	T	0.64789	0.2630	M	0.73598	2.24	0.09310	N	0.999999	D;P;P;P;P	0.61080	0.989;0.879;0.883;0.928;0.928	P;P;B;P;P	0.58873	0.847;0.715;0.445;0.648;0.648	T	0.56323	-0.7998	10	0.66056	D	0.02	.	10.0102	0.41981	0.239:0.0:0.761:0.0	.	2740;2740;2748;2736;2728	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	F	2736;2748;2748;2740;582	ENSP00000348573:V2736F;ENSP00000351922:V2748F;ENSP00000350813:V2748F;ENSP00000378042:V582F	ENSP00000348573:V2736F	V	+	1	0	AKAP9	91550465	1.000000	0.71417	0.474000	0.27266	0.799000	0.45148	3.151000	0.50670	1.245000	0.43885	0.591000	0.81541	GTT		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91712529	G	T	91712529	3	4	231	1	0	0	0	0	1	0	0	0	459	1029	36	3	8336	3	AKAP9	7	91712529	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08	40616192	91712529	67426134	21	13077											
SGCE	8910	broad.mit.edu	37	7	94248262	94248262	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr7:94248262G>A	ENST00000265735.7	-	5	580	c.470C>T	c.(469-471)cCg>cTg	p.P157L	SGCE_ENST00000447873.1_Missense_Mutation_p.P157L|SGCE_ENST00000415788.2_Missense_Mutation_p.P193L|SGCE_ENST00000437425.2_Missense_Mutation_p.P116L|SGCE_ENST00000428696.2_Missense_Mutation_p.P157L|SGCE_ENST00000445866.2_Missense_Mutation_p.P157L	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	157					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)	p.P157L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATATGGCAACGGGAAGTCTAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											82	75	77					7																	94248262		2203	4300	6503	94086198	SO:0001583	missense	8910			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.470C>T	7.37:g.94248262G>A	ENSP00000265735:p.Pro157Leu		94086198	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237442	0.39498	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.98345	-4.5;-4.5;-4.88;-4.51;-4.51;-4.5	5.54	4.64	0.57946	Dystroglycan-type cadherin-like (1);	0.047393	0.85682	N	0.000000	D	0.97576	0.9206	L	0.27053	0.805	0.80722	D	1	D;B;B;B;D	0.89917	1.0;0.075;0.219;0.296;1.0	D;B;B;B;D	0.97110	1.0;0.016;0.183;0.034;0.998	D	0.96761	0.9561	10	0.27785	T	0.31	-9.3439	13.8781	0.63665	0.0767:0.0:0.9233:0.0	.	193;116;157;157;157	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556	.;.;.;.;SGCE_HUMAN	L	157;157;116;157;157;193	ENSP00000265735:P157L;ENSP00000398930:P157L;ENSP00000394061:P116L;ENSP00000388734:P157L;ENSP00000397536:P157L;ENSP00000405313:P193L	ENSP00000265735:P157L	P	-	2	0	SGCE	94086198	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	5.770000	0.68873	1.418000	0.47098	0.655000	0.94253	CCG		0.358	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			A	94248262	G	A	94248262	3	1	231	1	0	0	0	0	1	0	0	0	14205	1116	39	1	1023	1	SGCE	7	94248262	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08	2535733	94248262	64890401	22	13078											
MLL5	55904	broad.mit.edu	37	7	104749603	104749603	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr7:104749603C>G	ENST00000311117.3	+	23	4228	c.3683C>G	c.(3682-3684)tCt>tGt	p.S1228C	SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1228C|KMT2E_ENST00000334914.7_Missense_Mutation_p.S283C|KMT2E_ENST00000334877.4_Missense_Mutation_p.S1228C	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1228					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S1228C(1)									AATGCCACTTCTGAAGAAACT	0.453																																																1	Substitution - Missense(1)	ovary(1)	7											92	79	83					7																	104749603		2203	4300	6503	104536839	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3683C>G	7.37:g.104749603C>G	ENSP00000312379:p.Ser1228Cys		104536839	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.00|19.00	3.742105|3.742105	0.69418|0.69418	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000473063|ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	.|D;D;D;T	.|0.92446	.|-3.04;-2.66;-3.04;0.73	5.07|5.07	0.984|0.984	0.19773|0.19773	.|.	.|0.903820	.|0.09498	.|N	.|0.794056	D|D	0.83866|0.83866	0.5347|0.5347	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.68988|0.68988	-0.5264|-0.5264	5|10	.|0.35671	.|T	.|0.21	.|.	5.5993|5.5993	0.17345|0.17345	0.0:0.6114:0.1395:0.2491|0.0:0.6114:0.1395:0.2491	.|.	.|1228	.|Q8IZD2	.|MLL5_HUMAN	L|C	39|1228;1228;1228;1148;1228;283	.|ENSP00000312379:S1228C;ENSP00000335599:S1228C;ENSP00000257745:S1228C;ENSP00000333986:S283C	.|ENSP00000257745:S1228C	F|S	+|+	3|2	2|0	MLL5|MLL5	104536839|104536839	0.068000|0.068000	0.21057|0.21057	0.003000|0.003000	0.11579|0.11579	0.799000|0.799000	0.45148|0.45148	0.665000|0.665000	0.25083|0.25083	-0.112000|-0.112000	0.11979|0.11979	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.453	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			G	104749603	C	G	104749603	3	3	231	1	0	0	0	0	1	0	0	0	9624	913	32	3	3765	3	MLL5	7	104749603	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08	10501341	104749603	54389060	23	13079											
PCM1	5108	broad.mit.edu	37	8	17812987	17812987	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr8:17812987C>G	ENST00000519253.1	+	10	1548	c.1297C>G	c.(1297-1299)Caa>Gaa	p.Q433E	PCM1_ENST00000524226.1_Missense_Mutation_p.Q433E|PCM1_ENST00000325083.8_Missense_Mutation_p.Q433E|PCM1_ENST00000518537.1_Missense_Mutation_p.Q472E			Q15154	PCM1_HUMAN	pericentriolar material 1	433					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.Q433E(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGCCTCTCCACAAAGGAGTGT	0.413			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	1	Substitution - Missense(1)	ovary(1)	8											64	57	59					8																	17812987		1896	4114	6010	17857267	SO:0001583	missense	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1297C>G	8.37:g.17812987C>G	ENSP00000431099:p.Gln433Glu		17857267	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	C	18.67	3.674288	0.67928	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000519253;ENST00000524226	T;T;T;T;T	0.24350	3.63;2.73;1.86;3.63;3.39	5.04	5.04	0.67666	.	0.242522	0.36628	N	0.002485	T	0.26231	0.0640	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.23185	0.064;0.081;0.027;0.064	B;B;B;B	0.25884	0.047;0.064;0.037;0.047	T	0.08994	-1.0695	10	0.09843	T	0.71	-4.1022	19.2661	0.93985	0.0:1.0:0.0:0.0	.	433;472;433;433	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	E	433;472;472;472;433;433	ENSP00000327077:Q433E;ENSP00000428131:Q472E;ENSP00000428123:Q472E;ENSP00000431099:Q433E;ENSP00000430521:Q433E	ENSP00000327077:Q433E	Q	+	1	0	PCM1	17857267	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.584000	0.67490	2.721000	0.93114	0.655000	0.94253	CAA		0.413	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		G	17812987	C	G	17812987	3	3	231	1	0	0	0	0	1	0	0	0	11584	479	17	3	1327	3	PCM1	8	17812987	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08		17812987	128551035	24	13080											
ZFHX4	79776	broad.mit.edu	37	8	77761834	77761834	+	Silent	SNP	G	G	T	rs79691445	byFrequency	TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr8:77761834G>T	ENST00000521891.2	+	8	4180	c.3732G>T	c.(3730-3732)ccG>ccT	p.P1244P	ZFHX4_ENST00000455469.2_Silent_p.P1199P|ZFHX4_ENST00000050961.6_Silent_p.P1199P|ZFHX4_ENST00000518282.1_Silent_p.P1218P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P1244P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGGTGCAGCCGGTCATCTGCT	0.473										HNSCC(33;0.089)																																						1	Substitution - coding silent(1)	ovary(1)	8											126	121	122					8																	77761834		2047	4214	6261	77924389	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3732G>T	8.37:g.77761834G>T			77924389	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77761834	G	T	77761834	2	4	231	1	0	0	0	0	0	0	0	1	17635	1103	39	3		3	ZFHX4	8	77761834	Silent	SNP	G	TCGA-24-1466-01A-01W-0545-08	59948847	77761834	68602188	25	13081											
NDRG1	10397	broad.mit.edu	37	8	134296538	134296538	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr8:134296538T>C	ENST00000414097.2	-	2	884	c.17A>G	c.(16-18)cAg>cGg	p.Q6R	NDRG1_ENST00000518066.1_Missense_Mutation_p.Q6R|NDRG1_ENST00000518176.1_Missense_Mutation_p.Q6R|NDRG1_ENST00000537882.1_5'UTR|NDRG1_ENST00000323851.7_Missense_Mutation_p.Q6R|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.Q6R	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	6					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.Q6R(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GTCTACATCCTGCATCTCCCG	0.532			T	ERG	prostate																																		Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	1	Substitution - Missense(1)	ovary(1)	8											217	158	178					8																	134296538		2203	4300	6503	134365720	SO:0001583	missense	10397			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.17A>G	8.37:g.134296538T>C	ENSP00000404854:p.Gln6Arg		134365720	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994383	0.54041	.	.	ENSG00000104419	ENST00000323851;ENST00000537144;ENST00000354944;ENST00000414097;ENST00000518176;ENST00000518066;ENST00000520230;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738	T;T;T;T;T;T;T;T;T;T	0.20738	2.1;2.05;2.1;2.09;2.14;2.16;2.16;2.12;2.16;2.05	5.03	5.03	0.67393	.	0.239665	0.43579	D	0.000549	T	0.22551	0.0544	L	0.59436	1.845	0.80722	D	1	B;B	0.18741	0.01;0.03	B;B	0.15484	0.007;0.013	T	0.03887	-1.0995	10	0.66056	D	0.02	-12.3457	11.0644	0.47966	0.0:0.0:0.0:1.0	.	6;6	E7ESM1;Q92597	.;NDRG1_HUMAN	R	6;6;6;6;6;6;23;6;6;6;17;6;60	ENSP00000319977:Q6R;ENSP00000347028:Q6R;ENSP00000404854:Q6R;ENSP00000428345:Q23R;ENSP00000429994:Q6R;ENSP00000429272:Q6R;ENSP00000428384:Q6R;ENSP00000429840:Q17R;ENSP00000429524:Q6R;ENSP00000428991:Q60R	ENSP00000319977:Q6R	Q	-	2	0	NDRG1	134365720	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.796000	0.55507	2.108000	0.64289	0.528000	0.53228	CAG		0.532	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			C	134296538	T	C	134296538	3	2	231	1	0	0	0	0	1	0	0	0	10251	1580	55	4	1227	4	NDRG1	8	134296538	Missense_Mutation	SNP	T	TCGA-24-1466-01A-01W-0545-08	56534704	134296538	12067484	26	13082											
MPDZ	8777	broad.mit.edu	37	9	13224504	13224504	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr9:13224504G>C	ENST00000319217.7	-	4	509	c.262C>G	c.(262-264)Ctg>Gtg	p.L88V	MPDZ_ENST00000447879.1_Missense_Mutation_p.L88V|MPDZ_ENST00000546205.1_Missense_Mutation_p.L88V|MPDZ_ENST00000536827.1_Missense_Mutation_p.L88V|MPDZ_ENST00000541718.1_Missense_Mutation_p.L88V|MPDZ_ENST00000381022.2_Missense_Mutation_p.L88V|MPDZ_ENST00000381015.4_Missense_Mutation_p.L88V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	88					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.L88V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCATTTTGCAGAGTAGGAATC	0.403																																																1	Substitution - Missense(1)	ovary(1)	9											111	106	107					9																	13224504		1860	4096	5956	13214504	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.262C>G	9.37:g.13224504G>C	ENSP00000320006:p.Leu88Val		13214504	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	G	11.42	1.632675	0.29068	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11277	2.84;2.79;2.79;2.8;2.84;2.84;2.84	5.34	3.34	0.38264	.	0.494435	0.15415	N	0.263554	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	B;P;B	0.38395	0.304;0.629;0.43	B;B;B	0.33960	0.084;0.115;0.173	T	0.27054	-1.0085	10	0.09843	T	0.71	.	9.1716	0.37086	0.1231:0.143:0.7339:0.0	.	88;88;88	B7ZMI4;O75970-3;O75970-2	.;.;.	V	88	ENSP00000320006:L88V;ENSP00000439807:L88V;ENSP00000370410:L88V;ENSP00000444151:L88V;ENSP00000415208:L88V;ENSP00000370403:L88V;ENSP00000446358:L88V	ENSP00000320006:L88V	L	-	1	2	MPDZ	13214504	0.001000	0.12720	0.097000	0.21041	0.966000	0.64601	0.918000	0.28678	1.461000	0.47929	0.655000	0.94253	CTG		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		C	13224504	G	C	13224504	3	2	231	1	0	0	0	0	1	0	0	0	9722	933	33	3	6035	3	MPDZ	9	13224504	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08		13224504	127988927	27	13083											
C9orf79	286234	broad.mit.edu	37	9	90502005	90502005	+	Missense_Mutation	SNP	C	C	T	rs147060985	byFrequency	TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr9:90502005C>T	ENST00000325643.5	+	4	2669	c.2603C>T	c.(2602-2604)cCg>cTg	p.P868L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	868					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P868L(1)									GCTCAGGCCCCGCCCTTCCCA	0.552													.|||	5	0.000998403	0.0038	0	5008	,	,		18788	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9						C	LEU/PRO	9,4397	15.5+/-35.6	0,9,2194	45	42	43		2603	-4.8	0	9	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C9orf79	NM_178828.4	98	0,10,6493	TT,TC,CC		0.0116,0.2043,0.0769	benign	868/1446	90502005	10,12996	2203	4300	6503	89691825	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2603C>T	9.37:g.90502005C>T	ENSP00000322640:p.Pro868Leu		89691825	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	0.006	-2.099055	0.00360	0.002043	1.16E-4	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.02944	4.1	2.46	-4.76	0.03229	.	2.239400	0.02564	N	0.097051	T	0.01222	0.0040	N	0.01505	-0.83	0.09310	N	1	B;B	0.21381	0.055;0.033	B;B	0.13407	0.003;0.009	T	0.46582	-0.9181	10	0.11182	T	0.66	.	9.4954	0.38984	0.0:0.2604:0.0:0.7396	.	868;520	Q6ZUB1;Q8NA33	CI079_HUMAN;.	L	868;520	ENSP00000322640:P868L	ENSP00000322640:P868L	P	+	2	0	C9orf79	89691825	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.428000	0.06991	-1.449000	0.01938	-0.259000	0.10710	CCG		0.552	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		T	90502005	C	T	90502005	3	4	231	1	0	0	0	0	1	0	0	0	2497	652	23	1	2617	1	C9orf79	9	90502005	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08	77277501	90502005	50711426	28	13084											
SUV39H2	79723	broad.mit.edu	37	10	14939160	14939160	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr10:14939160C>G	ENST00000354919.6	+	3	493	c.493C>G	c.(493-495)Cca>Gca	p.P165A	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.P105A	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	165					cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P105A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TTTAGAGGGCCCACCTTCAGA	0.378																																																1	Substitution - Missense(1)	ovary(1)	10											94	92	93					10																	14939160		2203	4300	6503	14979166	SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.493C>G	10.37:g.14939160C>G	ENSP00000346997:p.Pro165Ala		14979166	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663313	0.67700	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	D;D;D	0.90504	-2.68;-2.68;-2.68	5.76	5.76	0.90799	Pre-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.91436	0.7297	M	0.75150	2.29	0.80722	D	1	P	0.49185	0.92	P	0.45794	0.493	D	0.88900	0.3352	10	0.18276	T	0.48	.	19.3309	0.94288	0.0:1.0:0.0:0.0	.	165	Q9H5I1	SUV92_HUMAN	A	165;105;105	ENSP00000346997:P165A;ENSP00000319208:P105A;ENSP00000392201:P105A	ENSP00000319208:P105A	P	+	1	0	SUV39H2	14979166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.674000	0.83992	2.880000	0.98712	0.650000	0.86243	CCA		0.378	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		G	14939160	C	G	14939160	3	3	231	1	0	0	0	0	1	0	0	0	15413	623	22	3	315	3	SUV39H2	10	14939160	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08		14939160	120595587	29	13085											
SORBS1	10580	broad.mit.edu	37	10	97096845	97096845	+	Silent	SNP	T	T	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr10:97096845T>A	ENST00000361941.3	-	28	3098	c.3072A>T	c.(3070-3072)tcA>tcT	p.S1024S	SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371227.4_Silent_p.S978S|SORBS1_ENST00000371247.2_Silent_p.S1024S|SORBS1_ENST00000347291.4_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TGGCCCTTGGTGACAAGGCGA	0.607																																																0			10											78	70	73					10																	97096845		2203	4300	6503	97086835	SO:0001819	synonymous_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3072A>T	10.37:g.97096845T>A			97086835		Silent	SNP	ENST00000361941.3	37	CCDS31255.1																																																																																				0.607	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			A	97096845	T	A	97096845	2	1	231	1	0	0	0	0	0	0	0	1	14930	1683	59	5		5	SORBS1	10	97096845	Silent	SNP	T	TCGA-24-1466-01A-01W-0545-08	82157685	97096845	38437902	30	13086											
CDON	50937	broad.mit.edu	37	11	125893310	125893310	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr11:125893310G>C	ENST00000392693.3	-	2	189	c.62C>G	c.(61-63)tCt>tGt	p.S21C	CDON_ENST00000263577.7_Missense_Mutation_p.S21C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	21					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S21C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACTCACAGAAGAGCACAGAAT	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											138	135	136					11																	125893310		2201	4299	6500	125398520	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.62C>G	11.37:g.125893310G>C	ENSP00000376458:p.Ser21Cys		125398520	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400650	0.42613	.	.	ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818	T;T;T;T;T	0.78364	-0.53;-0.54;0.07;-0.31;-1.17	5.65	5.65	0.86999	.	0.255981	0.28057	N	0.016775	T	0.73489	0.3593	N	0.25380	0.74	0.19575	N	0.999964	P;P;D	0.55385	0.938;0.951;0.971	P;P;P	0.49752	0.541;0.518;0.621	T	0.69540	-0.5118	10	0.62326	D	0.03	-8.4027	13.6395	0.62241	0.075:0.0:0.925:0.0	.	21;21;21	E9PRD8;Q4KMG0;Q4KMG0-2	.;CDON_HUMAN;.	C	21	ENSP00000376458:S21C;ENSP00000263577:S21C;ENSP00000434212:S21C;ENSP00000436940:S21C;ENSP00000437176:S21C	ENSP00000263577:S21C	S	-	2	0	CDON	125398520	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	6.507000	0.73717	2.656000	0.90262	0.591000	0.81541	TCT		0.423	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		C	125893310	G	C	125893310	3	2	231	1	0	0	0	0	1	0	0	0	3170	942	33	3	3808	3	CDON	11	125893310	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08		125893310	9113206	31	13087											
NECAP1	25977	broad.mit.edu	37	12	8245638	8245638	+	Silent	SNP	A	A	G			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr12:8245638A>G	ENST00000339754.5	+	6	741	c.663A>G	c.(661-663)ggA>ggG	p.G221G		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	221					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)		p.G221G(1)		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		CTAACCATGGAGGCAGTGATG	0.443																																																1	Substitution - coding silent(1)	ovary(1)	12											158	145	149					12																	8245638		2203	4300	6503	8136905	SO:0001819	synonymous_variant	25977			AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.663A>G	12.37:g.8245638A>G			8136905	Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Silent	SNP	ENST00000339754.5	37	CCDS8589.1																																																																																				0.443	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		G	8245638	A	G	8245638	2	3	231	1	0	0	0	0	0	0	0	1	10307	291	11	4		4	NECAP1	12	8245638	Silent	SNP	A	TCGA-24-1466-01A-01W-0545-08		8245638	125606257	32	13088											
SCN8A	6334	broad.mit.edu	37	12	52184247	52184247	+	Silent	SNP	G	G	C			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr12:52184247G>C	ENST00000354534.6	+	25	4663	c.4485G>C	c.(4483-4485)ctG>ctC	p.L1495L	SCN8A_ENST00000545061.1_Silent_p.L1454L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1495					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.L1495L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGAAAAAGCTGGGCTCAAAGA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	12											56	57	57					12																	52184247		2032	4224	6256	50470514	SO:0001819	synonymous_variant	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4485G>C	12.37:g.52184247G>C			50470514	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	CCDS44891.1																																																																																				0.458	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		C	52184247	G	C	52184247	2	2	231	1	0	0	0	0	0	0	0	1	13927	1335	47	3		3	SCN8A	12	52184247	Silent	SNP	G	TCGA-24-1466-01A-01W-0545-08	43938609	52184247	81667648	33	13089											
NBEA	26960	broad.mit.edu	37	13	35615220	35615220	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr13:35615220C>T	ENST00000400445.3	+	2	979	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NBEA_ENST00000540320.1_Missense_Mutation_p.R149W|NBEA_ENST00000379939.2_Missense_Mutation_p.R149W|NBEA_ENST00000310336.4_Missense_Mutation_p.R149W	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	149					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R149W(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAAAGTGTTCGGAATTTACA	0.403																																																1	Substitution - Missense(1)	ovary(1)	13											92	85	87					13																	35615220		1890	4150	6040	34513220	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.445C>T	13.37:g.35615220C>T	ENSP00000383295:p.Arg149Trp		34513220	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092595	0.94149	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.75664	0.3880	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78663	-0.2116	10	0.72032	D	0.01	.	19.2626	0.93974	0.0:1.0:0.0:0.0	.	149	Q5T321	.	W	149	ENSP00000440951:R149W;ENSP00000383295:R149W;ENSP00000369271:R149W;ENSP00000308534:R149W	ENSP00000308534:R149W	R	+	1	2	NBEA	34513220	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.544000	0.85801	0.585000	0.79938	CGG		0.403	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	35615220	C	T	35615220	3	4	231	1	0	0	0	0	1	0	0	0	10187	875	31	1	451	1	NBEA	13	35615220	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08		35615220	79554658	34	13090											
LRRK1	79705	broad.mit.edu	37	15	101593134	101593134	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr15:101593134C>G	ENST00000388948.3	+	25	4056	c.3697C>G	c.(3697-3699)Ctg>Gtg	p.L1233V	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.L1230V	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.L1245V(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGGCTCTTCCTGGAGAACAG	0.692																																																1	Substitution - Missense(1)	ovary(1)	15											20	29	26					15																	101593134		2177	4272	6449	99410657	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3697C>G	15.37:g.101593134C>G	ENSP00000373600:p.Leu1233Val		99410657		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096011	0.56075	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.75154	-0.89;-0.91	5.08	0.989	0.19802	Protein kinase-like domain (1);	0.180333	0.37219	N	0.002200	T	0.64438	0.2598	N	0.19112	0.55	0.32360	N	0.557289	P	0.51351	0.944	P	0.49708	0.62	T	0.70313	-0.4906	10	0.54805	T	0.06	.	10.2613	0.43427	0.0:0.5954:0.0:0.4046	.	1233	Q38SD2	LRRK1_HUMAN	V	1233;1230	ENSP00000373600:L1233V;ENSP00000284395:L1230V	ENSP00000284395:L1230V	L	+	1	2	LRRK1	99410657	0.987000	0.35691	1.000000	0.80357	0.883000	0.51084	0.383000	0.20651	0.251000	0.21505	0.644000	0.83932	CTG		0.692	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		G	101593134	C	G	101593134	3	3	231	1	0	0	0	0	1	0	0	0	9032	680	24	3	3791	3	LRRK1	15	101593134	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08		101593134	938258	35	13091											
PALB2	79728	broad.mit.edu	37	16	23646411	23646411	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr16:23646411T>C	ENST00000261584.4	-	4	1608	c.1456A>G	c.(1456-1458)Aaa>Gaa	p.K486E		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	486	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K486E(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GAGCTGACTTTAGTTAATGAG	0.453			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	1	Substitution - Missense(1)	ovary(1)	16											128	129	128					16																	23646411		2197	4300	6497	23553912	SO:0001583	missense	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1456A>G	16.37:g.23646411T>C	ENSP00000261584:p.Lys486Glu		23553912	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	1.819	-0.472741	0.04445	.	.	ENSG00000083093	ENST00000261584	T	0.11604	2.76	5.67	3.73	0.42828	.	0.368370	0.26338	N	0.024942	T	0.02970	0.0088	N	0.01668	-0.77	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44513	-0.9323	10	0.02654	T	1	-6.3112	8.445	0.32836	0.0:0.8171:0.0:0.1829	.	486	Q86YC2	PALB2_HUMAN	E	486	ENSP00000261584:K486E	ENSP00000261584:K486E	K	-	1	0	PALB2	23553912	0.002000	0.14202	0.033000	0.17914	0.108000	0.19459	0.657000	0.24963	0.854000	0.35336	-0.242000	0.12053	AAA		0.453	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		C	23646411	T	C	23646411	3	2	231	1	0	0	0	0	1	0	0	0	11406	1763	61	4	2144	4	PALB2	16	23646411	Missense_Mutation	SNP	T	TCGA-24-1466-01A-01W-0545-08		23646411	66708342	36	13092											
SNX20	124460	broad.mit.edu	37	16	50711383	50711383	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr16:50711383A>G	ENST00000330943.4	-	2	226	c.55T>C	c.(55-57)Tgc>Cgc	p.C19R	SNX20_ENST00000423026.2_Missense_Mutation_p.C19R|SNX20_ENST00000300590.3_Missense_Mutation_p.C19R	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	19					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)	p.C19R(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTGCCGTGCACTGGGTTATG	0.632																																																1	Substitution - Missense(1)	ovary(1)	16											83	80	81					16																	50711383		2198	4300	6498	49268884	SO:0001583	missense	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.55T>C	16.37:g.50711383A>G	ENSP00000332062:p.Cys19Arg		49268884	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.207575	0.39003	.	.	ENSG00000167208	ENST00000300590;ENST00000423026;ENST00000330943;ENST00000413750	T;T;T	0.45276	0.9;0.94;1.57	4.2	-2.5	0.06384	.	0.860582	0.10206	N	0.702694	T	0.26268	0.0641	L	0.27053	0.805	0.19300	N	0.999976	B;B;B	0.29432	0.1;0.244;0.009	B;B;B	0.26517	0.027;0.07;0.016	T	0.19549	-1.0302	10	0.59425	D	0.04	-10.0974	8.2121	0.31490	0.2818:0.624:0.0942:0.0	.	19;19;19	Q7Z614-3;Q7Z614;Q7Z614-4	.;SNX20_HUMAN;.	R	19	ENSP00000300590:C19R;ENSP00000388875:C19R;ENSP00000332062:C19R	ENSP00000300590:C19R	C	-	1	0	SNX20	49268884	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-1.557000	0.02166	-0.502000	0.06596	-0.648000	0.03929	TGC		0.632	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		G	50711383	A	G	50711383	3	3	231	1	0	0	0	0	1	0	0	0	14895	159	6	4	1050	4	SNX20	16	50711383	Missense_Mutation	SNP	A	TCGA-24-1466-01A-01W-0545-08	27064972	50711383	39643370	37	13093											
MMP2	4313	broad.mit.edu	37	16	55523684	55523684	+	Silent	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr16:55523684G>A	ENST00000219070.4	+	7	1637	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	MMP2_ENST00000570308.1_Silent_p.A300A|MMP2_ENST00000543485.1_Silent_p.A300A|MMP2_ENST00000437642.2_Silent_p.A326A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	376	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.A376A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGTGGTGTGCGACCACAGCCA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	16											110	91	98					16																	55523684		2198	4300	6498	54081185	SO:0001819	synonymous_variant	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1128G>A	16.37:g.55523684G>A			54081185	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	CCDS10752.1																																																																																				0.587	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			A	55523684	G	A	55523684	2	1	231	1	0	0	0	0	0	0	0	1	9658	1045	37	1		1	MMP2	16	55523684	Silent	SNP	G	TCGA-24-1466-01A-01W-0545-08	4812301	55523684	34831069	38	13094											
TP53	7157	broad.mit.edu	37	17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C	rs587782082		TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr17:7577536T>C	ENST00000269305.4	-	7	934	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G	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	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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)	AGGATGGGCCTCCGGTTCATG	0.567		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"	95	Substitution - Missense(67)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - coding silent(1)	lung(22)|upper_aerodigestive_tract(10)|urinary_tract(9)|large_intestine(7)|breast(7)|central_nervous_system(5)|biliary_tract(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|endometrium(3)|ovary(3)|soft_tissue(2)|skin(2)|peritoneum(1)|small_intestine(1)|pancreas(1)|liver(1)	17											153	113	126					17																	7577536		2203	4300	6503	7518261	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.745A>G	17.37:g.7577536T>C	ENSP00000269305:p.Arg249Gly		7518261	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	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496716	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.62	-0.0234	0.13943	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	0.99854	0.9932	M	0.92367	3.3	0.48185	D	0.9996	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;0.999	D;D;D;D;D	0.81914	0.976;0.995;0.99;0.967;0.988	D	0.97987	1.0352	10	0.87932	D	0	-3.0658	12.7443	0.57273	0.0:0.0:0.4175:0.5825	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	G	249;249;249;249;249;249;238;117	ENSP00000410739:R249G;ENSP00000352610:R249G;ENSP00000269305:R249G;ENSP00000398846:R249G;ENSP00000391127:R249G;ENSP00000391478:R249G;ENSP00000425104:R117G	ENSP00000269305:R249G	R	-	1	2	TP53	7518261	0.009000	0.17119	0.995000	0.50966	0.814000	0.46013	0.039000	0.13884	-0.029000	0.13827	-0.648000	0.03929	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577536	T	C	7577536	3	2	231	1	0	0	0	0	1	0	0	0	16381	1550	54	4	545	4	TP53	17	7577536	Missense_Mutation	SNP	T	TCGA-24-1466-01A-01W-0545-08		7577536	73617674	39	13095											
CDK12	51755	broad.mit.edu	37	17	37676233	37676233	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr17:37676233A>T	ENST00000447079.4	+	11	3021	c.2988A>T	c.(2986-2988)ttA>ttT	p.L996F	CDK12_ENST00000430627.2_Missense_Mutation_p.L996F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	996	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L996F(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CACTTGATTTATTGGACCACA	0.428			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Missense(1)	ovary(1)	17											239	204	216					17																	37676233		2203	4300	6503	34929759	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2988A>T	17.37:g.37676233A>T	ENSP00000398880:p.Leu996Phe		34929759	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909615	0.72868	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.60171	0.21;0.21	5.56	3.21	0.36854	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	0.32703	N	0.005752	T	0.62024	0.2394	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.62324	-0.6878	10	0.87932	D	0	-5.079	4.7256	0.12939	0.5422:0.0:0.4578:0.0	.	995;996;996	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	F	996	ENSP00000407720:L996F;ENSP00000398880:L996F	ENSP00000407720:L996F	L	+	3	2	CDK12	34929759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.926000	0.56491	0.895000	0.36342	0.533000	0.62120	TTA		0.428	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		T	37676233	A	T	37676233	3	4	231	1	0	0	0	0	1	0	0	0	3128	446	16	5	3030	5	CDK12	17	37676233	Missense_Mutation	SNP	A	TCGA-24-1466-01A-01W-0545-08	30098697	37676233	43518977	40	13096											
DLGAP1	9229	broad.mit.edu	37	18	3879507	3879507	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr18:3879507G>A	ENST00000315677.3	-	4	1157	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R188C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R188C|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R188C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	188					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.R188C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCTCCGCGCGCCGCTCCTTG	0.711																																																1	Substitution - Missense(1)	ovary(1)	18											52	62	59					18																	3879507		2201	4298	6499	3869507	SO:0001583	missense	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.562C>T	18.37:g.3879507G>A	ENSP00000316377:p.Arg188Cys		3869507	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507343	0.64410	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.18502	2.21;2.21	5.51	3.57	0.40892	.	0.262401	0.39146	N	0.001455	T	0.26231	0.0640	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.99	P;P;P	0.62014	0.791;0.897;0.608	T	0.03807	-1.1002	10	0.87932	D	0	-16.2908	13.4022	0.60889	0.0:0.0:0.5081:0.4919	.	188;188;188	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	C	188	ENSP00000316377:R188C;ENSP00000445973:R188C	ENSP00000316377:R188C	R	-	1	0	DLGAP1	3869507	1.000000	0.71417	0.930000	0.37139	0.784000	0.44337	2.586000	0.46119	1.297000	0.44761	0.655000	0.94253	CGC		0.711	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			A	3879507	G	A	3879507	3	1	231	1	0	0	0	0	1	0	0	0	4559	1087	38	1	2466	1	DLGAP1	18	3879507	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08		3879507	74197741	41	13097											
ZNF536	9745	broad.mit.edu	37	19	30934886	30934886	+	Silent	SNP	C	C	T			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr19:30934886C>T	ENST00000355537.3	+	2	564	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	139					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.F139F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAGCGCTTCCGCTTCAACA	0.637																																																1	Substitution - coding silent(1)	ovary(1)	19											66	54	58					19																	30934886		2203	4300	6503	35626726	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.417C>T	19.37:g.30934886C>T			35626726	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	30934886	C	T	30934886	2	4	231	1	0	0	0	0	0	0	0	1	17974	854	30	2		2	ZNF536	19	30934886	Silent	SNP	C	TCGA-24-1466-01A-01W-0545-08		30934886	28194097	42	13098											
ZSWIM3	140831	broad.mit.edu	37	20	44507214	44507214	+	Missense_Mutation	SNP	C	C	T	rs141779185	byFrequency	TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr20:44507214C>T	ENST00000255152.2	+	2	2226	c.2017C>T	c.(2017-2019)Cgc>Tgc	p.R673C	ZSWIM1_ENST00000372523.1_5'Flank|ZSWIM1_ENST00000372520.1_5'Flank|ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R667C	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	673							zinc ion binding (GO:0008270)	p.R673C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGACGTGGGCCGCCTCCCTTT	0.552													C|||	2	0.000399361	0.0015	0	5008	,	,		20339	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	20						C	CYS/ARG	7,4399	14.3+/-33.2	0,7,2196	81	87	85		2017	-0.9	0	20	dbSNP_134	85	0,8600		0,0,4300	yes	missense	ZSWIM3	NM_080752.3	180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	673/697	44507214	7,12999	2203	4300	6503	43940621	SO:0001583	missense	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.2017C>T	20.37:g.44507214C>T	ENSP00000255152:p.Arg673Cys		43940621	Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	C	1.131	-0.652470	0.03480	0.001589	0.0	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.23950	1.91;1.88	5.27	-0.947	0.10382	.	0.945136	0.08900	N	0.877321	T	0.11495	0.0280	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27191	-1.0081	10	0.49607	T	0.09	0.0243	2.7082	0.05167	0.1174:0.435:0.1141:0.3335	.	667;673	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	C	673;667	ENSP00000255152:R673C;ENSP00000406313:R667C	ENSP00000255152:R673C	R	+	1	0	ZSWIM3	43940621	0.000000	0.05858	0.001000	0.08648	0.303000	0.27691	-0.147000	0.10234	-0.624000	0.05611	-2.600000	0.00162	CGC		0.552	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		T	44507214	C	T	44507214	3	4	231	1	0	0	0	0	1	0	0	0	18242	652	23	1	2023	1	ZSWIM3	20	44507214	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08		44507214	18518306	43	13099											
KRTAP10-9	386676	broad.mit.edu	37	21	46047807	46047807	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chr21:46047807G>A	ENST00000397911.3	+	1	768	c.719G>A	c.(718-720)aGg>aAg	p.R240K	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	240	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CCTGTGTGCAGGCCCGCCTGC	0.687																																																0			21											86	104	98					21																	46047807		2203	4300	6503	44872235	SO:0001583	missense	386676			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.719G>A	21.37:g.46047807G>A	ENSP00000381009:p.Arg240Lys		44872235	A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	10.02	1.237432	0.22711	.	.	ENSG00000221837	ENST00000397911	T	0.01347	4.99	3.5	0.524	0.17066	.	.	.	.	.	T	0.01695	0.0054	L	0.28504	0.86	0.09310	N	0.999993	P	0.48407	0.91	P	0.47744	0.556	T	0.52238	-0.8602	8	.	.	.	.	5.388	0.16227	0.4068:0.0:0.5932:0.0	.	240	P60411	KR109_HUMAN	K	240	ENSP00000381009:R240K	.	R	+	2	0	KRTAP10-9	44872235	0.005000	0.15991	0.261000	0.24466	0.080000	0.17528	0.365000	0.20348	0.127000	0.18452	-0.251000	0.11542	AGG		0.687	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			A	46047807	G	A	46047807	3	1	231	1	0	0	0	0	1	0	0	0	8516	1000	35	2	721	2	KRTAP10-9	21	46047807	Missense_Mutation	SNP	G	TCGA-24-1466-01A-01W-0545-08		46047807	2082088	44	13100											
FRMPD4	9758	broad.mit.edu	37	X	12712557	12712557	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chrX:12712557A>G	ENST00000380682.1	+	9	1423	c.917A>G	c.(916-918)gAg>gGg	p.E306G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	306	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E306G(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTTGCTTTCGAGTATCTCTAT	0.383																																																1	Substitution - Missense(1)	ovary(1)	X											114	96	102					X																	12712557		2203	4300	6503	12622478	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.917A>G	X.37:g.12712557A>G	ENSP00000370057:p.Glu306Gly		12622478	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349630	0.82132	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.79554	-1.28	5.02	5.02	0.67125	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88503	0.6454	M	0.73217	2.22	0.49915	D	0.999839	D;D	0.76494	0.999;0.971	D;P	0.83275	0.996;0.727	D	0.89711	0.3912	10	0.72032	D	0.01	.	14.1021	0.65062	1.0:0.0:0.0:0.0	.	298;306	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	G	306;297;295	ENSP00000370057:E306G	ENSP00000304583:E295G	E	+	2	0	FRMPD4	12622478	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	8.818000	0.91991	1.775000	0.52247	0.417000	0.27973	GAG		0.383	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		G	12712557	A	G	12712557	3	3	231	1	0	0	0	0	1	0	0	0	6059	304	11	4	951	4	FRMPD4	23	12712557	Missense_Mutation	SNP	A	TCGA-24-1466-01A-01W-0545-08		12712557	142558003	45	13101											
LAS1L	81887	broad.mit.edu	37	X	64743484	64743484	+	Silent	SNP	G	G	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chrX:64743484G>A	ENST00000374811.3	-	11	1444	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Silent_p.S451S|LAS1L_ENST00000374804.5_Silent_p.S409S	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	468					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.S468S(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGCCCAAGCAGGACTCAACCA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	X											39	30	33					X																	64743484		2200	4300	6500	64660209	SO:0001819	synonymous_variant	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.1404C>T	X.37:g.64743484G>A			64660209	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	CCDS14381.1																																																																																				0.602	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		A	64743484	G	A	64743484	2	1	231	1	0	0	0	0	0	0	0	1	8636	987	35	2		2	LAS1L	23	64743484	Silent	SNP	G	TCGA-24-1466-01A-01W-0545-08	52030927	64743484	90527076	46	13102											
PHKA1	5255	broad.mit.edu	37	X	71864275	71864275	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1466-01A-01W-0545-08	TCGA-24-1466-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	99837df2-4b60-4c4a-b850-c91d739f1950	9b918503-4ad4-47ff-855f-90f92b2c4348	g.chrX:71864275C>A	ENST00000373542.4	-	14	1555	c.1396G>T	c.(1396-1398)Gct>Tct	p.A466S	PHKA1_ENST00000541944.1_Missense_Mutation_p.A466S|PHKA1_ENST00000373539.3_Missense_Mutation_p.A466S|PHKA1_ENST00000339490.3_Missense_Mutation_p.A466S|PHKA1_ENST00000373545.3_Missense_Mutation_p.A466S	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	466					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.A466S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TATACCTCAGCAATGGTCTCC	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											186	129	148					X																	71864275		2203	4300	6503	71781000	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1396G>T	X.37:g.71864275C>A	ENSP00000362643:p.Ala466Ser		71781000	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979814	0.53827	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90844	-2.72;-2.74;-2.71;-2.72;-2.72	5.62	5.62	0.85841	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.88742	0.6519	L	0.37630	1.12	0.58432	D	0.999999	P;B;B	0.44521	0.837;0.014;0.08	P;B;B	0.49799	0.622;0.036;0.088	D	0.85559	0.1226	10	0.09338	T	0.73	-16.8414	15.9105	0.79470	0.0:1.0:0.0:0.0	.	466;466;466	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	S	466	ENSP00000362646:A466S;ENSP00000362643:A466S;ENSP00000441251:A466S;ENSP00000342469:A466S;ENSP00000362640:A466S	ENSP00000342469:A466S	A	-	1	0	PHKA1	71781000	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.886000	0.56190	2.356000	0.79943	0.523000	0.50628	GCT		0.438	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			A	71864275	C	A	71864275	3	1	231	1	0	0	0	0	1	0	0	0	11843	710	25	3	2351	3	PHKA1	23	71864275	Missense_Mutation	SNP	C	TCGA-24-1466-01A-01W-0545-08	7120791	71864275	83406285	47	13103											
ENO1	2023	genome.wustl.edu	37	1	8926471	8926471	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:8926471G>A	ENST00000234590.4	-	7	653	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	178	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.F178F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCTTCCCTGAAGTTTGCTG	0.527																																					Esophageal Squamous(21;302 608 19946 22210 33560)											1	Substitution - coding silent(1)	ovary(1)	1											137	129	132					1																	8926471		2203	4300	6503	8849058	SO:0001819	synonymous_variant	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.534C>T	1.37:g.8926471G>A			8849058	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	ENST00000234590.4	37	CCDS97.1																																																																																				0.527	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		A	8926471	G	A	8926471	2	1	232	1	0	0	0	0	0	0	0	1	5121	1281	45	2		2	ENO1	1	8926471	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09		8926471	240324150	1	13104											
SPEN	23013	genome.wustl.edu	37	1	16203044	16203044	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:16203044G>C	ENST00000375759.3	+	3	956	c.752G>C	c.(751-753)aGa>aCa	p.R251T	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	251	Arg-rich.|Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R251T(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCCAGTCTAGAAATCAGTCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											53	51	52					1																	16203044		2203	4300	6503	16075631	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.752G>C	1.37:g.16203044G>C	ENSP00000364912:p.Arg251Thr		16075631	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052626	0.55218	.	.	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	T;T	0.35421	2.83;1.31	5.78	5.78	0.91487	.	.	.	.	.	T	0.49184	0.1542	L	0.27053	0.805	0.53005	D	0.999962	D	0.89917	1.0	D	0.66716	0.946	T	0.46345	-0.9198	9	0.54805	T	0.06	-22.9064	20.0118	0.97458	0.0:0.0:1.0:0.0	.	251	Q96T58	MINT_HUMAN	T	251;210;210	ENSP00000364912:R251T;ENSP00000388021:R210T	ENSP00000364906:R210T	R	+	2	0	SPEN	16075631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.011000	0.76359	2.744000	0.94065	0.563000	0.77884	AGA		0.527	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16203044	G	C	16203044	3	2	232	1	0	0	0	0	1	0	0	0	15040	942	33	3	762	3	SPEN	1	16203044	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	7276573	16203044	233047577	2	13105											
UBR4	23352	genome.wustl.edu	37	1	19442123	19442123	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:19442123C>A	ENST00000375254.3	-	74	10859	c.10832G>T	c.(10831-10833)cGc>cTc	p.R3611L	UBR4_ENST00000375218.3_Missense_Mutation_p.R26L|UBR4_ENST00000375217.2_Missense_Mutation_p.R3604L|UBR4_ENST00000375226.2_Missense_Mutation_p.R3587L|UBR4_ENST00000375267.2_Missense_Mutation_p.R3611L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3611					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R3611L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTTGTGCCAGCGAGCTGGCCT	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											110	110	110					1																	19442123		2203	4300	6503	19314710	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10832G>T	1.37:g.19442123C>A	ENSP00000364403:p.Arg3611Leu		19314710	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580552	0.28180	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.18016	2.24;2.24;2.25;2.24	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	N	0.00289	-1.7	0.80722	D	1	B;D	0.60160	0.001;0.987	B;D	0.67725	0.001;0.953	T	0.48479	-0.9032	10	0.02654	T	1	.	18.7215	0.91697	0.0:1.0:0.0:0.0	.	26;3611	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	L	3611;3611;3604;3587;26	ENSP00000364403:R3611L;ENSP00000364416:R3611L;ENSP00000364365:R3604L;ENSP00000364374:R3587L	ENSP00000364365:R3604L	R	-	2	0	UBR4	19314710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.466000	0.80914	2.767000	0.95098	0.655000	0.94253	CGC		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19442123	C	A	19442123	3	1	232	1	0	0	0	0	1	0	0	0	16904	768	27	3	4851	3	UBR4	1	19442123	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	3239079	19442123	229808498	3	13106											
KIAA0090	23065	genome.wustl.edu	37	1	19566406	19566406	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:19566406G>A	ENST00000477853.1	-	8	902	c.860C>T	c.(859-861)tCc>tTc	p.S287F	EMC1_ENST00000375208.3_Missense_Mutation_p.S265F|EMC1_ENST00000375199.3_Missense_Mutation_p.S287F|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	287						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.S287F(1)									CTGGGCCCGGGAAGCGTCCAC	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											54	57	56					1																	19566406		2203	4300	6503	19438993	SO:0001583	missense	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.860C>T	1.37:g.19566406G>A	ENSP00000420608:p.Ser287Phe		19438993	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.554878	0.86231	.	.	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.26660	1.74;1.74;1.72	5.72	5.72	0.89469	.	0.213240	0.50627	D	0.000104	T	0.42966	0.1226	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.63880	0.986;0.986;0.993;0.989	P;P;D;P	0.63113	0.814;0.814;0.911;0.817	T	0.07849	-1.0751	9	.	.	.	.	14.1155	0.65151	0.0:0.1503:0.8497:0.0	.	265;287;287;287	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	F	287;287;265	ENSP00000420608:S287F;ENSP00000364345:S287F;ENSP00000364354:S265F	.	S	-	2	0	KIAA0090	19438993	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	7.211000	0.77933	2.691000	0.91804	0.655000	0.94253	TCC		0.527	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		A	19566406	G	A	19566406	3	1	232	1	0	0	0	0	1	0	0	0	8153	1174	41	2	2185	2	KIAA0090	1	19566406	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	124283	19566406	229684215	4	13107											
PUM1	9698	genome.wustl.edu	37	1	31438946	31438946	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:31438946T>C	ENST00000257075.5	-	13	2062	c.1969A>G	c.(1969-1971)Agc>Ggc	p.S657G	PUM1_ENST00000423018.2_Missense_Mutation_p.S513G|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000426105.2_Missense_Mutation_p.S657G|PUM1_ENST00000373747.3_Missense_Mutation_p.S658G|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Missense_Mutation_p.S631G|PUM1_ENST00000424085.2_Missense_Mutation_p.S415G|PUM1_ENST00000373741.4_Missense_Mutation_p.S693G|PUM1_ENST00000373742.2_Missense_Mutation_p.S598G	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	657	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.S657G(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGGGAGCTGCTCTGTGAATTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											138	134	135					1																	31438946		2203	4300	6503	31211533	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1969A>G	1.37:g.31438946T>C	ENSP00000257075:p.Ser657Gly		31211533	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.43|15.43	2.830567|2.830567	0.50845|0.50845	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	.|T;T;T;T;T;T;T;T	.|0.20598	.|2.14;2.06;2.34;2.33;2.48;2.32;2.44;2.1	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.21881|0.21881	0.0527|0.0527	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;P;B;P;P;P;P	.|0.49862	.|0.929;0.034;0.929;0.058;0.82;0.82;0.82;0.82	.|B;B;B;B;B;B;B;B	.|0.42062	.|0.374;0.016;0.374;0.037;0.254;0.254;0.254;0.254	T|T	0.01252|0.01252	-1.1405|-1.1405	5|10	.|0.33141	.|T	.|0.24	-9.9348|-9.9348	16.4237|16.4237	0.83790|0.83790	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|598;513;693;631;657;657;658;657	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.|.;.;.;.;PUM1_HUMAN;.;.;.	G|G	674;368|415;657;658;395;657;631;693;513;598	.|ENSP00000400141:S415G;ENSP00000257075:S657G;ENSP00000362852:S658G;ENSP00000391723:S657G;ENSP00000401777:S631G;ENSP00000362846:S693G;ENSP00000399440:S513G;ENSP00000362847:S598G	.|ENSP00000257075:S657G	E|S	-|-	2|1	0|0	PUM1|PUM1	31211533|31211533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.289000|6.289000	0.72696|0.72696	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	GAG|AGC		0.587	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			C	31438946	T	C	31438946	3	2	232	1	0	0	0	0	1	0	0	0	12828	1551	54	4	1637	4	PUM1	1	31438946	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	11872540	31438946	217811675	5	13108											
GJB4	127534	genome.wustl.edu	37	1	35227580	35227580	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:35227580G>T	ENST00000339480.1	+	2	1095	c.725G>T	c.(724-726)gGa>gTa	p.G242V	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	242					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.G242V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTCTCCCAGGGAGGGCACCCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											44	38	40					1																	35227580		2203	4300	6503	35000167	SO:0001583	missense	127534				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.725G>T	1.37:g.35227580G>T	ENSP00000345868:p.Gly242Val		35000167	B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256000	0.59321	.	.	ENSG00000189433	ENST00000339480	D	0.97688	-4.49	5.56	-1.36	0.09085	.	1.121710	0.06572	N	0.748735	D	0.92971	0.7763	L	0.29908	0.895	0.18873	N	0.999985	B	0.10296	0.003	B	0.09377	0.004	D	0.84626	0.0687	10	0.23302	T	0.38	.	3.3157	0.07032	0.2377:0.1554:0.5073:0.0996	.	242	Q9NTQ9	CXB4_HUMAN	V	242	ENSP00000345868:G242V	ENSP00000345868:G242V	G	+	2	0	GJB4	35000167	0.001000	0.12720	0.009000	0.14445	0.834000	0.47266	-0.081000	0.11321	0.110000	0.17919	0.561000	0.74099	GGA		0.612	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		T	35227580	G	T	35227580	3	4	232	1	0	0	0	0	1	0	0	0	6410	1174	41	3	727	3	GJB4	1	35227580	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	3788634	35227580	214023041	6	13109											
LRRC7	57554	genome.wustl.edu	37	1	70504433	70504433	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:70504433G>C	ENST00000035383.5	+	19	2842	c.2812G>C	c.(2812-2814)Gat>Cat	p.D938H	LRRC7_ENST00000415775.2_Missense_Mutation_p.D222H|LRRC7_ENST00000310961.5_Missense_Mutation_p.D943H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	938						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D938H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTAATGAAAGATATCAAGTC	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											56	58	57					1																	70504433		2203	4300	6503	70277021	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2812G>C	1.37:g.70504433G>C	ENSP00000035383:p.Asp938His		70277021	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354722	0.41700	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37915	1.17;1.24;2.33	5.67	5.67	0.87782	.	0.053861	0.64402	D	0.000001	T	0.46347	0.1388	L	0.47716	1.5	0.58432	D	0.999997	D;D;D	0.67145	0.996;0.98;0.966	D;P;P	0.65987	0.94;0.847;0.707	T	0.37686	-0.9695	10	0.59425	D	0.04	.	18.7487	0.91804	0.0:0.0:1.0:0.0	.	222;938;938	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	H	943;938;222;761	ENSP00000309245:D943H;ENSP00000035383:D938H;ENSP00000394867:D222H	ENSP00000035383:D938H	D	+	1	0	LRRC7	70277021	1.000000	0.71417	0.999000	0.59377	0.158000	0.22134	9.201000	0.95017	2.686000	0.91538	0.467000	0.42956	GAT		0.363	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		C	70504433	G	C	70504433	3	2	232	1	0	0	0	0	1	0	0	0	9020	942	33	3	2886	3	LRRC7	1	70504433	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	35276853	70504433	178746188	7	13110											
ACADM	34	genome.wustl.edu	37	1	76205779	76205779	+	Missense_Mutation	SNP	G	G	A	rs121434278		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:76205779G>A	ENST00000370841.4	+	7	1020	c.583G>A	c.(583-585)Gga>Aga	p.G195R	ACADM_ENST00000370834.5_Missense_Mutation_p.G228R|ACADM_ENST00000543667.1_Missense_Mutation_p.G6R|ACADM_ENST00000420607.2_Missense_Mutation_p.G199R|ACADM_ENST00000541113.1_Missense_Mutation_p.G159R	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	195			G -> R (in ACADMD). {ECO:0000269|PubMed:7929823}.		cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.G195R(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	GATAACCAACGGAGGAAAAGC	0.328																																																1	Substitution - Missense(1)	ovary(1)	1	GRCh37	CM940001	ACADM	M	rs121434278	G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	104	108	107	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	583,595	5.5	1	1	dbSNP_132	107	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	ACADM	NM_000016.4,NM_001127328.1	125,125	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	195/422,199/426	76205779	2,13002	2203	4299	6502	75978367	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.583G>A	1.37:g.76205779G>A	ENSP00000359878:p.Gly195Arg		75978367	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555561	0.86231	0.0	2.33E-4	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.99158	-4.15;-4.15;-4.15;-5.5;-4.15	5.46	5.46	0.80206	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.97340	3.985	0.80722	A	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.995;0.996;0.997;0.999	D	0.97700	1.0184	9	0.87932	D	0	.	18.9215	0.92528	0.0:0.0:1.0:0.0	.	159;109;228;199;195	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	R	195;228;159;6;199	ENSP00000359878:G195R;ENSP00000359871:G228R;ENSP00000442324:G159R;ENSP00000446176:G6R;ENSP00000409612:G199R	ENSP00000359871:G228R	G	+	1	0	ACADM	75978367	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.590000	0.98238	2.546000	0.85860	0.650000	0.86243	GGA		0.328	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			A	76205779	G	A	76205779	3	1	232	1	0	0	0	0	1	0	0	0	113	1117	39	1	621	1	ACADM	1	76205779	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	5701346	76205779	173044842	8	13111											
ADORA3	140	genome.wustl.edu	37	1	112043007	112043007	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:112043007C>A	ENST00000241356.4	-	2	927	c.522G>T	c.(520-522)atG>atT	p.M174I	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000486342.1_5'Flank	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	174					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.M174I(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CCATGTAGTCCATTCTCATGA	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											157	144	149					1																	112043007		2203	4300	6503	111844530	SO:0001583	missense	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.522G>T	1.37:g.112043007C>A	ENSP00000241356:p.Met174Ile		111844530	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979606	0.53827	.	.	ENSG00000121933	ENST00000241356	T	0.36157	1.27	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28532	0.0706	L	0.45285	1.41	0.40145	D	0.976884	B	0.28178	0.202	B	0.39152	0.292	T	0.11817	-1.0572	9	0.38643	T	0.18	.	18.2733	0.90074	0.0:1.0:0.0:0.0	.	174	P33765	AA3R_HUMAN	I	174	ENSP00000241356:M174I	ENSP00000241356:M174I	M	-	3	0	ADORA3	111844530	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	4.887000	0.63156	2.483000	0.83821	0.655000	0.94253	ATG		0.448	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		A	112043007	C	A	112043007	3	1	232	1	0	0	0	0	1	0	0	0	329	594	21	3	1152	3	ADORA3	1	112043007	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	35837228	112043007	137207614	9	13112											
SPTA1	6708	genome.wustl.edu	37	1	158637649	158637649	+	Splice_Site	SNP	T	T	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:158637649T>G	ENST00000368147.4	-	15	2217	c.2037A>C	c.(2035-2037)aaA>aaC	p.K679N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	679					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.K679N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTTTTACCTTTCTGTTTTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											49	46	47					1																	158637649		1835	4082	5917	156904273	SO:0001630	splice_region_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2038+1A>C	1.37:g.158637649T>G			156904273	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273616	0.59649	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53206	0.63;0.63	4.95	4.95	0.65309	.	0.236856	0.21826	N	0.068553	T	0.68174	0.2972	H	0.94385	3.53	0.51767	D	0.999938	D	0.69078	0.997	D	0.75484	0.986	T	0.76189	-0.3050	10	0.87932	D	0	.	8.2843	0.31920	0.0:0.0882:0.0:0.9118	.	679	P02549	SPTA1_HUMAN	N	679	ENSP00000357130:K679N;ENSP00000357129:K679N	ENSP00000357129:K679N	K	-	3	2	SPTA1	156904273	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	5.119000	0.64679	2.080000	0.62538	0.528000	0.53228	AAA		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	G	158637649	T	G	158637649	5	3	232	1	0	0	0	0	0	0	1	0	15118	1623	56	5	5374	5	SPTA1	1	158637649	Splice_Site	SNP	T	TCGA-24-1469-01A-01W-0553-09	46594642	158637649	90612972	10	13113											
ATF6	22926	genome.wustl.edu	37	1	161821604	161821604	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:161821604T>C	ENST00000367942.3	+	11	1479	c.1412T>C	c.(1411-1413)aTt>aCt	p.I471T	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	471	Interaction with THBS4.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I471T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CAGCCCCTAATTAACACAACA	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											222	202	209					1																	161821604		2203	4300	6503	160088228	SO:0001583	missense	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1412T>C	1.37:g.161821604T>C	ENSP00000356919:p.Ile471Thr		160088228	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676585	0.67928	.	.	ENSG00000118217	ENST00000367942	T	0.19105	2.17	5.73	5.73	0.89815	.	0.168759	0.53938	D	0.000042	T	0.17492	0.0420	L	0.47716	1.5	0.37939	D	0.932257	D;P	0.54964	0.969;0.953	P;P	0.50109	0.585;0.631	T	0.02371	-1.1169	9	0.44086	T	0.13	-15.4816	13.9662	0.64209	0.0:0.0:0.0:1.0	.	471;472	P18850;Q59H30	ATF6A_HUMAN;.	T	471	ENSP00000356919:I471T	ENSP00000356919:I471T	I	+	2	0	ATF6	160088228	0.986000	0.35501	0.247000	0.24249	0.937000	0.57800	5.357000	0.66058	2.187000	0.69744	0.460000	0.39030	ATT		0.403	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		C	161821604	T	C	161821604	3	2	232	1	0	0	0	0	1	0	0	0	1084	1493	52	4	1454	4	ATF6	1	161821604	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	3183955	161821604	87429017	11	13114											
RNASEL	6041	genome.wustl.edu	37	1	182545403	182545403	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:182545403T>C	ENST00000367559.3	-	6	2280	c.2027A>G	c.(2026-2028)gAa>gGa	p.E676G	RNASEL_ENST00000444138.1_Missense_Mutation_p.E676G	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	676	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.E676G(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTATGCTTTTCTTCATCAAT	0.294																																																1	Substitution - Missense(1)	ovary(1)	1											59	62	61					1																	182545403		2203	4295	6498	180812026	SO:0001583	missense	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2027A>G	1.37:g.182545403T>C	ENSP00000356530:p.Glu676Gly		180812026	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717206	0.48622	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.31769	1.48;1.48	5.4	4.27	0.50696	PUG domain (1);KEN domain, ribonuclease activator (2);	0.869308	0.10012	N	0.727091	T	0.40145	0.1105	M	0.70595	2.14	0.20196	N	0.999927	P	0.47484	0.896	P	0.46510	0.519	T	0.28459	-1.0043	10	0.72032	D	0.01	-3.2321	8.3357	0.32213	0.0:0.0905:0.0:0.9095	.	676	Q05823	RN5A_HUMAN	G	676	ENSP00000356530:E676G;ENSP00000411147:E676G	ENSP00000356530:E676G	E	-	2	0	RNASEL	180812026	0.003000	0.15002	0.009000	0.14445	0.036000	0.12997	1.085000	0.30840	0.981000	0.38548	0.482000	0.46254	GAA		0.294	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		C	182545403	T	C	182545403	3	2	232	1	0	0	0	0	1	0	0	0	13419	1783	62	4	206	4	RNASEL	1	182545403	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	20723799	182545403	66705218	12	13115											
PLA2G4A	5321	genome.wustl.edu	37	1	186919850	186919850	+	Missense_Mutation	SNP	C	C	G	rs370896190		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:186919850C>G	ENST00000367466.3	+	13	1478	c.1326C>G	c.(1324-1326)caC>caG	p.H442Q	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.H382Q	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	442	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.		H -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.H442Q(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATGAATCACACGAACCCAAAG	0.398																																																3	Substitution - Missense(3)	ovary(1)|lung(1)|breast(1)	1											60	57	58					1																	186919850		2203	4300	6503	185186473	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1326C>G	1.37:g.186919850C>G	ENSP00000356436:p.His442Gln		185186473	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.583011	0.00872	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04049	3.72;3.72	6.07	-7.53	0.01336	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.225766	0.48286	N	0.000186	T	0.01061	0.0035	N	0.01048	-1.04	0.22171	N	0.999316	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38824	-0.9643	10	0.11182	T	0.66	-10.6744	7.2366	0.26074	0.2647:0.106:0.5319:0.0974	.	382;442	E7EU42;P47712	.;PA24A_HUMAN	Q	442;382	ENSP00000356436:H442Q;ENSP00000406892:H382Q	ENSP00000356436:H442Q	H	+	3	2	PLA2G4A	185186473	0.568000	0.26635	0.773000	0.31616	0.409000	0.31022	-0.257000	0.08745	-1.360000	0.02172	-3.496000	0.00033	CAC		0.398	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		G	186919850	C	G	186919850	3	3	232	1	0	0	0	0	1	0	0	0	12001	535	19	3	1372	3	PLA2G4A	1	186919850	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	4374447	186919850	62330771	13	13116											
C1orf107	27042	genome.wustl.edu	37	1	210004268	210004270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	GAG	GAG	GAG	-	GAG	GAG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:210004268_210004270delGAG	ENST00000491415.2	+	3	325_327	c.268_270delGAG	c.(268-270)gagdel	p.E96del		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	96	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E90del(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						agaggaagatgaggaggaggaag	0.438																																																1	Deletion - In frame(1)	ovary(1)	1																																								208070893	SO:0001651	inframe_deletion	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.268_270delGAG	1.37:g.210004274_210004276delGAG	ENSP00000419005:p.Glu96del		208070891	O75992|Q4VY00|Q63HL9	In_Frame_Del	DEL	ENST00000491415.2	37	CCDS1493.1																																																																																				0.438	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		-	210004270	GAG	-	210004268	7	5	232	1	0	1	0	1	0	0	0	0	1981	1291	45	0	278	0	C1orf107	1	210004268	In_Frame_Del	DEL	GAG	TCGA-24-1469-01A-01W-0553-09	23084418	210004268	39246353	14	13117											
C1orf57	84284	genome.wustl.edu	37	1	233113957	233113957	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr1:233113957G>A	ENST00000366628.5	+	5	640	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	NTPCR_ENST00000490098.1_3'UTR	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	185						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)	p.V185M(1)		large_intestine(2)|lung(1)|ovary(1)	4						CGTGACGTGCGTGCAGAGCAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											110	88	95					1																	233113957		2203	4300	6503	231180580	SO:0001583	missense	84284			BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"human cancer-related NTPase"		"chromosome 1 open reading frame 57"	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.553G>A	1.37:g.233113957G>A	ENSP00000355587:p.Val185Met		231180580		Missense_Mutation	SNP	ENST00000366628.5	37	CCDS1597.1	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681650	0.14907	.	.	ENSG00000135778	ENST00000366628	T	0.51817	0.69	4.82	2.96	0.34315	.	.	.	.	.	T	0.34048	0.0884	L	0.42245	1.32	0.80722	D	1	B	0.32620	0.378	B	0.22880	0.042	T	0.15178	-1.0446	9	0.59425	D	0.04	.	7.6832	0.28526	0.262:0.0:0.738:0.0	.	185	Q9BSD7	NTPCR_HUMAN	M	185	ENSP00000355587:V185M	ENSP00000355587:V185M	V	+	1	0	NTPCR	231180580	0.998000	0.40836	0.386000	0.26170	0.180000	0.23129	2.852000	0.48310	0.636000	0.30508	-0.251000	0.11542	GTG		0.537	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092324.2	NM_032324		A	233113957	G	A	233113957	3	1	232	1	0	0	0	0	1	0	0	0	2049	1145	40	1	571	1	C1orf57	1	233113957	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	23109689	233113957	16136664	15	13118											
MSGN1	343930	genome.wustl.edu	37	2	17998044	17998044	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:17998044G>A	ENST00000281047.3	+	1	282	c.259G>A	c.(259-261)Gcc>Acc	p.A87T		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	87					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.A87T(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTCGGTGGGGCCAGTGGCCT	0.632																																					Melanoma(127;325 1712 14802 40657 49130)											1	Substitution - Missense(1)	ovary(1)	2											38	44	42					2																	17998044		1983	4149	6132	17861525	SO:0001583	missense	343930				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.259G>A	2.37:g.17998044G>A	ENSP00000281047:p.Ala87Thr		17861525		Missense_Mutation	SNP	ENST00000281047.3	37	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.998323	0.00435	.	.	ENSG00000151379	ENST00000281047	T	0.17528	2.27	4.28	-8.55	0.00908	.	1.287910	0.05503	N	0.558841	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	10	0.10902	T	0.67	-9.5537	4.1904	0.10417	0.3799:0.3718:0.1656:0.0828	.	87	A6NI15	MSGN1_HUMAN	T	87	ENSP00000281047:A87T	ENSP00000281047:A87T	A	+	1	0	MSGN1	17861525	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.745000	0.00377	-1.813000	0.01226	-0.808000	0.03180	GCC		0.632	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		A	17998044	G	A	17998044	3	1	232	1	0	0	0	0	1	0	0	0	9869	1203	42	2	261	2	MSGN1	2	17998044	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09		17998044	225201329	16	13119											
PSME4	23198	genome.wustl.edu	37	2	54122200	54122200	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:54122200A>C	ENST00000404125.1	-	34	3911	c.3856T>G	c.(3856-3858)Tat>Gat	p.Y1286D	PSME4_ENST00000421748.2_Missense_Mutation_p.Y430D	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1286					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.Y1172D(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACACCAGCATAAACAACCATA	0.373																																																1	Substitution - Missense(1)	ovary(1)	2											170	153	159					2																	54122200		2203	4300	6503	53975704	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3856T>G	2.37:g.54122200A>C	ENSP00000384211:p.Tyr1286Asp		53975704	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001947	0.74932	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.32023	1.47;1.51	5.51	5.51	0.81932	Armadillo-type fold (1);	0.114163	0.64402	D	0.000008	T	0.56804	0.2010	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	0.964;0.999;1.0	P;D;D	0.72982	0.885;0.956;0.979	T	0.58730	-0.7585	10	0.46703	T	0.11	.	15.9795	0.80097	1.0:0.0:0.0:0.0	.	661;430;1286	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	D	430;1286	ENSP00000410830:Y430D;ENSP00000384211:Y1286D	ENSP00000384211:Y1286D	Y	-	1	0	PSME4	53975704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.549000	0.82163	2.225000	0.72522	0.529000	0.55759	TAT		0.373	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		C	54122200	A	C	54122200	3	2	232	1	0	0	0	0	1	0	0	0	12712	362	13	5	1727	5	PSME4	2	54122200	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	36124156	54122200	189077173	17	13120											
ANTXR1	84168	genome.wustl.edu	37	2	69304552	69304552	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:69304552G>A	ENST00000303714.4	+	8	896	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	ANTXR1_ENST00000409349.3_Missense_Mutation_p.A192T|ANTXR1_ENST00000409829.3_Missense_Mutation_p.A192T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	192	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.A192T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGCCCGGATTGCGGACAGTAA	0.498									Familial Infantile Hemangioma																																							1	Substitution - Missense(1)	ovary(1)	2											197	174	182					2																	69304552		2203	4300	6503	69158056	SO:0001583	missense	84168	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.574G>A	2.37:g.69304552G>A	ENSP00000301945:p.Ala192Thr		69158056	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797346	0.90538	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	D;D;D	0.87650	-2.28;-2.28;-2.28	5.39	5.39	0.77823	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.88775	2.98	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	D	0.94713	0.7894	10	0.54805	T	0.06	-15.8878	16.6455	0.85176	0.0:0.0:1.0:0.0	.	192;192;192;192	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3	ANTR1_HUMAN;.;.;.	T	192	ENSP00000301945:A192T;ENSP00000387058:A192T;ENSP00000386494:A192T	ENSP00000301945:A192T	A	+	1	0	ANTXR1	69158056	1.000000	0.71417	0.911000	0.35937	0.993000	0.82548	8.215000	0.89762	2.540000	0.85666	0.655000	0.94253	GCG		0.498	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		A	69304552	G	A	69304552	3	1	232	1	0	0	0	0	1	0	0	0	711	1319	46	2	604	2	ANTXR1	2	69304552	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	15182352	69304552	173894821	18	13121											
CCDC138	165055	genome.wustl.edu	37	2	109432460	109432460	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:109432460C>G	ENST00000295124.4	+	10	1165	c.1105C>G	c.(1105-1107)Cat>Gat	p.H369D	CCDC138_ENST00000412964.2_Missense_Mutation_p.H369D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	369								p.H369D(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTCGGATCATCATCTTAGCAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											102	104	103					2																	109432460		2203	4300	6503	108798892	SO:0001583	missense	165055			AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1105C>G	2.37:g.109432460C>G	ENSP00000295124:p.His369Asp		108798892	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	CCDS2080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.89|18.89	3.718548|3.718548	0.68844|0.68844	.|.	.|.	ENSG00000163006|ENSG00000163006	ENST00000412964;ENST00000295124|ENST00000456512	T;T|.	0.34472|.	1.36;1.38|.	6.07|6.07	5.2|5.2	0.72013|0.72013	.|.	0.205916|.	0.42821|.	D|.	0.000653|.	T|T	0.60090|0.60090	0.2242|0.2242	M|M	0.67953|0.67953	2.075|2.075	0.33926|0.33926	D|D	0.641527|0.641527	P;D|.	0.56287|.	0.952;0.975|.	P;P|.	0.53146|.	0.605;0.719|.	T|T	0.70988|0.70988	-0.4722|-0.4722	10|5	0.66056|.	D|.	0.02|.	-1.5904|-1.5904	9.8549|9.8549	0.41079|0.41079	0.0:0.786:0.1399:0.074|0.0:0.786:0.1399:0.074	.|.	369;369|.	Q96M89-2;Q96M89|.	.;CC138_HUMAN|.	D|M	369|265	ENSP00000411800:H369D;ENSP00000295124:H369D|.	ENSP00000295124:H369D|.	H|I	+|+	1|3	0|3	CCDC138|CCDC138	108798892|108798892	0.964000|0.964000	0.33143|0.33143	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.945000|0.945000	0.29056|0.29056	1.567000|1.567000	0.49668|0.49668	0.655000|0.655000	0.94253|0.94253	CAT|ATC		0.338	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		G	109432460	C	G	109432460	3	3	232	1	0	0	0	0	1	0	0	0	2772	826	29	3	1143	3	CCDC138	2	109432460	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	40127908	109432460	133766913	19	13122											
FAP	2191	genome.wustl.edu	37	2	163074524	163074524	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:163074524G>A	ENST00000188790.4	-	9	941	c.734C>T	c.(733-735)cCt>cTt	p.P245L	FAP_ENST00000443424.1_Missense_Mutation_p.P220L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.P245L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATTGTTCTAGGATATTGTTC	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											100	104	103					2																	163074524		2203	4300	6503	162782770	SO:0001583	missense	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.734C>T	2.37:g.163074524G>A	ENSP00000188790:p.Pro245Leu		162782770		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612561	0.87258	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.39787	1.23;1.06	5.74	5.74	0.90152	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	0.971;1.0;1.0	D;D;D	0.97110	0.93;0.999;1.0	T	0.81113	-0.1080	10	0.87932	D	0	-24.7408	20.2982	0.98569	0.0:0.0:1.0:0.0	.	220;245;245	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	L	245;220	ENSP00000188790:P245L;ENSP00000411391:P220L	ENSP00000188790:P245L	P	-	2	0	FAP	162782770	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.061000	0.93913	2.873000	0.98535	0.563000	0.77884	CCT		0.348	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			A	163074524	G	A	163074524	3	1	232	1	0	0	0	0	1	0	0	0	5673	1000	35	2	1620	2	FAP	2	163074524	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	53642064	163074524	80124849	20	13123											
FASTKD1	79675	genome.wustl.edu	37	2	170393800	170393800	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:170393800C>T	ENST00000453153.2	-	12	2471	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	FASTKD1_ENST00000495505.1_Intron|FASTKD1_ENST00000453929.2_Missense_Mutation_p.E666K	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	709					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.E709K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CCTAGTACCTCTGCTAACATT	0.313																																																1	Substitution - Missense(1)	ovary(1)	2											132	129	130					2																	170393800		2203	4300	6503	170102046	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2125G>A	2.37:g.170393800C>T	ENSP00000400513:p.Glu709Lys		170102046	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470305	0.84533	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.46063	0.88;0.88	5.63	5.63	0.86233	FAST kinase-like protein, subdomain 2 (1);	0.088719	0.85682	D	0.000000	T	0.57169	0.2035	L	0.58428	1.81	0.58432	D	0.999999	D;D	0.65815	0.995;0.992	P;P	0.57548	0.823;0.811	T	0.52260	-0.8599	10	0.38643	T	0.18	-12.6835	18.6672	0.91495	0.0:1.0:0.0:0.0	.	666;709	Q53R41-2;Q53R41	.;FAKD1_HUMAN	K	709;666	ENSP00000400513:E709K;ENSP00000403229:E666K	ENSP00000400513:E709K	E	-	1	0	FASTKD1	170102046	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.105000	0.64591	2.658000	0.90341	0.491000	0.48974	GAG		0.313	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		T	170393800	C	T	170393800	3	4	232	1	0	0	0	0	1	0	0	0	5685	922	32	2	434	2	FASTKD1	2	170393800	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	7319276	170393800	72805573	21	13124											
PDE11A	50940	genome.wustl.edu	37	2	178494184	178494184	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:178494184G>T	ENST00000286063.6	-	20	3070	c.2753C>A	c.(2752-2754)gCc>gAc	p.A918D	PDE11A_ENST00000389683.3_Missense_Mutation_p.A474D|PDE11A_ENST00000409504.1_Missense_Mutation_p.A560D|PDE11A_ENST00000450799.2_Missense_Mutation_p.A109D|PDE11A_ENST00000449286.2_Missense_Mutation_p.A560D|PDE11A_ENST00000358450.4_Missense_Mutation_p.A668D	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	918					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.A918D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GGAGGATGAGGCAGTTGAGGC	0.498									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							1	Substitution - Missense(1)	ovary(1)	2											266	213	230					2																	178494184		2203	4300	6503	178202430	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2753C>A	2.37:g.178494184G>T	ENSP00000286063:p.Ala918Asp		178202430	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.53|16.53	3.149123|3.149123	0.57151|0.57151	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000436700	T;T;T;T;T;T|.	0.74421|.	-0.47;-0.24;-0.19;-0.37;-0.84;-0.37|.	5.62|5.62	5.62|5.62	0.85841|0.85841	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);|.	0.577148|.	0.18523|.	N|.	0.138707|.	T|.	0.38241|.	0.1033|.	N|N	0.14661|0.14661	0.345|0.345	0.31674|0.31674	N|N	0.644006|0.644006	B;B|.	0.25609|.	0.13;0.079|.	B;B|.	0.23574|.	0.047;0.035|.	T|.	0.41251|.	-0.9519|.	10|.	0.14252|.	T|.	0.57|.	.|.	15.1709|15.1709	0.72872|0.72872	0.0:0.1406:0.8594:0.0|0.0:0.1406:0.8594:0.0	.|.	668;918|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	D|X	918;668;109;560;474;560|120	ENSP00000286063:A918D;ENSP00000351232:A668D;ENSP00000387964:A109D;ENSP00000386539:A560D;ENSP00000374333:A474D;ENSP00000390599:A560D|.	ENSP00000286063:A918D|.	A|C	-|-	2|3	0|2	PDE11A|PDE11A	178202430|178202430	0.922000|0.922000	0.31269|0.31269	0.919000|0.919000	0.36401|0.36401	0.200000|0.200000	0.23975|0.23975	3.386000|3.386000	0.52492|0.52492	2.655000|2.655000	0.90218|0.90218	0.591000|0.591000	0.81541|0.81541	GCC|TGC		0.498	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			T	178494184	G	T	178494184	3	4	232	1	0	0	0	0	1	0	0	0	11631	1203	42	3	52	3	PDE11A	2	178494184	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	8100384	178494184	64705189	22	13125											
TTN	7273	genome.wustl.edu	37	2	179425005	179425005	+	Silent	SNP	T	T	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:179425005T>G	ENST00000591111.1	-	276	81155	c.80931A>C	c.(80929-80931)ggA>ggC	p.G26977G	TTN_ENST00000342175.6_Silent_p.G19745G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.G19678G|TTN_ENST00000460472.2_Silent_p.G19553G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.G28618G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G26050G|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26977	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G26048G(1)|p.G19553G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTCACATCCTTCCCGAA	0.398																																																2	Substitution - coding silent(2)	ovary(2)	2											103	101	102					2																	179425005		1912	4125	6037	179133251	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80931A>C	2.37:g.179425005T>G			179133251	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179425005	T	G	179425005	2	3	232	1	0	0	0	0	0	0	0	1	16735	1422	50	5		5	TTN	2	179425005	Silent	SNP	T	TCGA-24-1469-01A-01W-0553-09	930821	179425005	63774368	23	13126											
TTN	7273	genome.wustl.edu	37	2	179497345	179497345	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:179497345G>A	ENST00000591111.1	-	185	38689	c.38465C>T	c.(38464-38466)tCa>tTa	p.S12822L	TTN_ENST00000342175.6_Missense_Mutation_p.S5590L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S5523L|TTN_ENST00000460472.2_Missense_Mutation_p.S5398L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S14463L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S11895L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12822	Ig-like 85.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S11895L(1)|p.S5398L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCACCATTGAATGCTTAGT	0.408																																																2	Substitution - Missense(2)	ovary(2)	2											185	181	182					2																	179497345		1928	4138	6066	179205590	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38465C>T	2.37:g.179497345G>A	ENSP00000465570:p.Ser12822Leu		179205590	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.58	1.980613	0.34942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	6.1	6.1	0.99115	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69584	0.3127	M	0.64404	1.975	0.30136	N	0.804329	B;B;B;B	0.28128	0.201;0.201;0.201;0.201	B;B;B;B	0.28232	0.087;0.087;0.087;0.087	T	0.68164	-0.5481	9	0.87932	D	0	.	20.7146	0.99709	0.0:0.0:1.0:0.0	.	5398;5523;5590;12822	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11895;5398;5590;5523;5398	ENSP00000343764:S11895L;ENSP00000434586:S5398L;ENSP00000340554:S5590L;ENSP00000352154:S5523L	ENSP00000340554:S5590L	S	-	2	0	TTN	179205590	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	4.688000	0.61715	2.902000	0.99343	0.650000	0.86243	TCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179497345	G	A	179497345	3	1	232	1	0	0	0	0	1	0	0	0	16735	1294	45	2	64817	2	TTN	2	179497345	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	72340	179497345	63702028	24	13127											
ALS2CR8	79800	genome.wustl.edu	37	2	203807552	203807552	+	Silent	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:203807552T>C	ENST00000402905.3	+	4	489	c.168T>C	c.(166-168)aaT>aaC	p.N56N	CARF_ENST00000414439.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000320443.8_Silent_p.N56N|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Silent_p.N44N|CARF_ENST00000444724.1_Silent_p.N56N|CARF_ENST00000428585.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000434998.1_Intron|CARF_ENST00000438828.2_Silent_p.N56N|CARF_ENST00000545253.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	56					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N56N(1)									AAGCAAATAATTCACTCATAT	0.428																																																1	Substitution - coding silent(1)	ovary(1)	2											89	85	86					2																	203807552		1880	4109	5989	203515797	SO:0001819	synonymous_variant	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.168T>C	2.37:g.203807552T>C			203515797	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	37	CCDS42801.1																																																																																				0.428	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		C	203807552	T	C	203807552	2	2	232	1	0	0	0	0	0	0	0	1	555	1490	52	4		4	ALS2CR8	2	203807552	Silent	SNP	T	TCGA-24-1469-01A-01W-0553-09	24310207	203807552	39391821	25	13128											
MAP2	4133	genome.wustl.edu	37	2	210558772	210558772	+	Silent	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:210558772C>G	ENST00000360351.4	+	7	2384	c.1878C>G	c.(1876-1878)tcC>tcG	p.S626S	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.S622S|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	626					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S626S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAAAAGAATCCCAGCCCAGTC	0.443																																					Pancreas(27;423 979 28787 29963)											1	Substitution - coding silent(1)	ovary(1)	2											59	58	58					2																	210558772		2203	4300	6503	210267017	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1878C>G	2.37:g.210558772C>G			210267017	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		G	210558772	C	G	210558772	2	3	232	1	0	0	0	0	0	0	0	1	9235	610	22	3		3	MAP2	2	210558772	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09	6751220	210558772	32640601	26	13129											
ABCA12	26154	genome.wustl.edu	37	2	215862429	215862429	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:215862429C>G	ENST00000272895.7	-	23	3503	c.3284G>C	c.(3283-3285)cGg>cCg	p.R1095P	ABCA12_ENST00000389661.4_Missense_Mutation_p.R777P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1095					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.R1095P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCATGAAGCCGGAGGTCTTT	0.358																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	ovary(1)	2											79	76	77					2																	215862429		2203	4300	6503	215570674	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3284G>C	2.37:g.215862429C>G	ENSP00000272895:p.Arg1095Pro		215570674	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678575	0.88542	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.84298	-1.83;-1.83	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000019	D	0.94248	0.8153	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	D	0.94455	0.7671	10	0.72032	D	0.01	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	1095;777	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	P	1095;777	ENSP00000272895:R1095P;ENSP00000374312:R777P	ENSP00000272895:R1095P	R	-	2	0	ABCA12	215570674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.283000	0.78640	2.780000	0.95670	0.655000	0.94253	CGG		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		G	215862429	C	G	215862429	3	3	232	1	0	0	0	0	1	0	0	0	30	652	23	3	4627	3	ABCA12	2	215862429	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	5303657	215862429	27336944	27	13130											
SPEG	10290	genome.wustl.edu	37	2	220309462	220309462	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:220309462C>T	ENST00000312358.7	+	2	608	c.476C>T	c.(475-477)aCg>aTg	p.T159M	SPEG_ENST00000396698.1_Missense_Mutation_p.T55M|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	159					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T159M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCACCCCCACGGGTGAGCTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											43	49	47					2																	220309462		1915	4118	6033	220017706	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.476C>T	2.37:g.220309462C>T	ENSP00000311684:p.Thr159Met		220017706	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340397	0.60963	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000435853;ENST00000431523;ENST00000396698	T;T;T;T	0.72835	-0.2;0.18;0.18;-0.69	4.86	4.86	0.63082	.	0.000000	0.38272	U	0.001745	T	0.66416	0.2787	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	T	0.72620	-0.4238	10	0.48119	T	0.1	.	15.7524	0.77997	0.0:1.0:0.0:0.0	.	159	Q15772	SPEG_HUMAN	M	159;159;68;65;55	ENSP00000311684:T159M;ENSP00000393134:T68M;ENSP00000410986:T65M;ENSP00000379926:T55M	ENSP00000265327:T159M	T	+	2	0	SPEG	220017706	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.216000	0.42871	2.227000	0.72691	0.442000	0.29010	ACG		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		T	220309462	C	T	220309462	3	4	232	1	0	0	0	0	1	0	0	0	15038	536	19	1	482	1	SPEG	2	220309462	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	4447033	220309462	22889911	28	13131											
SPHKAP	80309	genome.wustl.edu	37	2	228884251	228884251	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:228884251A>G	ENST00000392056.3	-	7	1365	c.1319T>C	c.(1318-1320)gTt>gCt	p.V440A	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V440A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	440						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V440A(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGACCGAGAAACCACTGTATC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											110	107	108					2																	228884251		2203	4300	6503	228592495	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1319T>C	2.37:g.228884251A>G	ENSP00000375909:p.Val440Ala		228592495	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	2.284	-0.364077	0.05103	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11169	2.8;2.8	6.03	2.42	0.29668	.	0.551000	0.19097	N	0.122794	T	0.09686	0.0238	L	0.50333	1.59	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.003;0.004	T	0.35822	-0.9773	10	0.21014	T	0.42	.	8.4103	0.32640	0.6171:0.0:0.3829:0.0	.	440;440	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	A	440	ENSP00000375909:V440A;ENSP00000339886:V440A	ENSP00000339886:V440A	V	-	2	0	SPHKAP	228592495	0.002000	0.14202	0.064000	0.19789	0.289000	0.27227	0.796000	0.26986	0.184000	0.20083	0.533000	0.62120	GTT		0.498	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		G	228884251	A	G	228884251	3	3	232	1	0	0	0	0	1	0	0	0	15050	43	2	4	3807	4	SPHKAP	2	228884251	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	8574789	228884251	14315122	29	13132											
TRIP12	9320	genome.wustl.edu	37	2	230650512	230650512	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:230650512G>A	ENST00000283943.5	-	33	5008	c.4830C>T	c.(4828-4830)ggC>ggT	p.G1610G	TRIP12_ENST00000389044.4_Silent_p.G1658G|TRIP12_ENST00000389045.3_Silent_p.G1340G	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1610					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.G1610G(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCCGTGAGCTGCCGAGGTCCT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	2											117	118	118					2																	230650512		2203	4300	6503	230358756	SO:0001819	synonymous_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4830C>T	2.37:g.230650512G>A			230358756	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	CCDS33391.1																																																																																				0.458	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		A	230650512	G	A	230650512	2	1	232	1	0	0	0	0	0	0	0	1	16556	1306	46	2		2	TRIP12	2	230650512	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	1766261	230650512	12548861	30	13133											
ALPP	250	genome.wustl.edu	37	2	233243522	233243522	+	Missense_Mutation	SNP	C	C	T	rs150250474		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:233243522C>T	ENST00000392027.2	+	1	279	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	4					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.P4S(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CATGCTGGGGCCCTGCAtgct	0.617													C|||	1	0.000199681	0	0.0014	5008	,	,		17835	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2											44	49	47					2																	233243522		2203	4300	6503	232951766	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.10C>T	2.37:g.233243522C>T	ENSP00000375881:p.Pro4Ser		232951766	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	7.537	0.659916	0.14645	.	.	ENSG00000163283	ENST00000392027	D	0.95272	-3.66	2.46	1.53	0.23141	.	7.203100	0.00166	N	0.000000	D	0.92172	0.7518	L	0.54323	1.7	0.09310	N	1	B	0.24721	0.11	B	0.25291	0.059	T	0.76471	-0.2947	10	0.07482	T	0.82	.	10.8473	0.46751	0.0:0.5887:0.4113:0.0	.	4	P05187	PPB1_HUMAN	S	4	ENSP00000375881:P4S	ENSP00000375881:P4S	P	+	1	0	ALPP	232951766	0.000000	0.05858	0.352000	0.25734	0.043000	0.13939	-1.368000	0.02580	0.295000	0.22570	0.313000	0.20887	CCC		0.617	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		T	233243522	C	T	233243522	3	4	232	1	0	0	0	0	1	0	0	0	548	739	26	2	12	2	ALPP	2	233243522	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	2593010	233243522	9955851	31	13134											
COL6A3	1293	genome.wustl.edu	37	2	238277669	238277669	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr2:238277669C>A	ENST00000295550.4	-	10	4889	c.4437G>T	c.(4435-4437)caG>caT	p.Q1479H	COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1273H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1273H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1278H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q872H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1279H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1479	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q1479H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATTGCTGAACTGCACGACCC	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											67	64	65					2																	238277669		2203	4300	6503	237942408	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4437G>T	2.37:g.238277669C>A	ENSP00000295550:p.Gln1479His		237942408	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894380	0.33442	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.19	4.31	0.51392	von Willebrand factor, type A (3);	0.000000	0.50627	D	0.000108	D	0.92241	0.7539	M	0.87097	2.86	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92551	0.6050	10	0.87932	D	0	.	10.3964	0.44203	0.0:0.7926:0.0:0.2074	.	872;1273;1479	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1479;1278;1273;872;1273;1279	ENSP00000295550:Q1479H;ENSP00000315609:Q1278H;ENSP00000315873:Q1273H;ENSP00000418285:Q872H;ENSP00000386844:Q1273H;ENSP00000295546:Q1279H	ENSP00000295550:Q1479H	Q	-	3	2	COL6A3	237942408	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	3.257000	0.51500	1.197000	0.43143	-0.142000	0.14014	CAG		0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238277669	C	A	238277669	3	1	232	1	0	0	0	0	1	0	0	0	3701	564	20	3	5236	3	COL6A3	2	238277669	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	5034147	238277669	4921704	32	13135											
BHLHE40	8553	genome.wustl.edu	37	3	5025108	5025108	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr3:5025108C>G	ENST00000256495.3	+	5	1573	c.970C>G	c.(970-972)Ccc>Gcc	p.P324A		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	324					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P324A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						TTTCTGCCTGCCCTTCTACCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	3											170	129	143					3																	5025108		2203	4300	6503	5000108	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.970C>G	3.37:g.5025108C>G	ENSP00000256495:p.Pro324Ala		5000108	Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662243	0.88251	.	.	ENSG00000134107	ENST00000256495	T	0.80214	-1.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.90277	0.6959	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91034	0.4866	10	0.87932	D	0	.	19.4173	0.94706	0.0:1.0:0.0:0.0	.	324	O14503	BHE40_HUMAN	A	324	ENSP00000256495:P324A	ENSP00000256495:P324A	P	+	1	0	BHLHE40	5000108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.642000	0.83385	2.589000	0.87451	0.655000	0.94253	CCC		0.592	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		G	5025108	C	G	5025108	3	3	232	1	0	0	0	0	1	0	0	0	1423	739	26	3	988	3	BHLHE40	3	5025108	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09		5025108	192997322	33	13136											
CEP63	80254	genome.wustl.edu	37	3	134256056	134256056	+	Silent	SNP	A	A	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr3:134256056A>T	ENST00000337090.3	+	6	674	c.501A>T	c.(499-501)gtA>gtT	p.V167V	CEP63_ENST00000513612.2_Silent_p.V167V|CEP63_ENST00000606977.1_Silent_p.V167V|CEP63_ENST00000354446.3_Silent_p.V167V|CEP63_ENST00000332047.5_Silent_p.V167V|CEP63_ENST00000383229.3_Silent_p.V167V			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	167					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.V167V(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCAACAGGTATCTTCACTGG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	3											112	114	114					3																	134256056		2203	4300	6503	135738746	SO:0001819	synonymous_variant	80254			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.501A>T	3.37:g.134256056A>T			135738746	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	ENST00000337090.3	37	CCDS3086.1																																																																																				0.423	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		T	134256056	A	T	134256056	2	4	232	1	0	0	0	0	0	0	0	1	3257	436	16	5		5	CEP63	3	134256056	Silent	SNP	A	TCGA-24-1469-01A-01W-0553-09	129230948	134256056	63766374	34	13137											
STAG1	10274	genome.wustl.edu	37	3	136068048	136068048	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr3:136068048C>G	ENST00000383202.2	-	29	3479	c.3223G>C	c.(3223-3225)Gta>Cta	p.V1075L	STAG1_ENST00000236698.5_Missense_Mutation_p.V1075L|STAG1_ENST00000536929.1_Missense_Mutation_p.V659L|STAG1_ENST00000434713.2_Missense_Mutation_p.V815L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1075					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.V1075L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTATTCCTTACTGATGAGGTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	3											148	132	138					3																	136068048		2203	4300	6503	137550738	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3223G>C	3.37:g.136068048C>G	ENSP00000372689:p.Val1075Leu		137550738	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657050	0.67586	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.32515	1.87;1.88;1.77;1.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.44542	1.39	0.80722	D	1	B;B	0.21753	0.06;0.028	B;B	0.25291	0.059;0.043	T	0.03344	-1.1046	10	0.29301	T	0.29	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1075;1075	Q6P275;Q8WVM7	.;STAG1_HUMAN	L	1075;1075;815;659	ENSP00000372689:V1075L;ENSP00000236698:V1075L;ENSP00000404396:V815L;ENSP00000445787:V659L	ENSP00000236698:V1075L	V	-	1	0	STAG1	137550738	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.052000	0.71080	2.884000	0.98904	0.655000	0.94253	GTA		0.393	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		G	136068048	C	G	136068048	3	3	232	1	0	0	0	0	1	0	0	0	15244	565	20	3	577	3	STAG1	3	136068048	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	1811992	136068048	61954382	35	13138											
EIF2B5	8893	genome.wustl.edu	37	3	183857889	183857889	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr3:183857889A>G	ENST00000273783.3	+	6	909	c.787A>G	c.(787-789)Aac>Gac	p.N263D	EIF2B5_ENST00000444495.1_Missense_Mutation_p.N263D	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	263					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.N263D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTTACAGACAACTTTGACTA	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											93	82	85					3																	183857889		2203	4300	6503	185340583	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.787A>G	3.37:g.183857889A>G	ENSP00000273783:p.Asn263Asp		185340583	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	a	33	5.217376	0.95104	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.99292	-5.7;-5.7	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98664	1.0685	10	0.52906	T	0.07	.	15.5609	0.76244	1.0:0.0:0.0:0.0	.	263	Q13144	EI2BE_HUMAN	D	263;263;19	ENSP00000273783:N263D;ENSP00000409142:N263D	ENSP00000273783:N263D	N	+	1	0	EIF2B5	185340583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.961000	0.93122	2.271000	0.75665	0.533000	0.62120	AAC		0.423	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			G	183857889	A	G	183857889	3	3	232	1	0	0	0	0	1	0	0	0	5004	130	5	4	809	4	EIF2B5	3	183857889	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	47789841	183857889	14164541	36	13139											
FAM193A	8603	genome.wustl.edu	37	4	2698260	2698260	+	Silent	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr4:2698260C>T	ENST00000324666.5	+	16	2925	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	FAM193A_ENST00000545951.1_Silent_p.S858S|FAM193A_ENST00000505311.1_Silent_p.S858S|FAM193A_ENST00000382839.3_Silent_p.S858S|FAM193A_ENST00000502458.1_Silent_p.S880S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	858								p.S858S(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAATAGCTCCGAAACCAAAC	0.512																																																1	Substitution - coding silent(1)	ovary(1)	4											101	95	97					4																	2698260		2203	4300	6503	2668058	SO:0001819	synonymous_variant	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2574C>T	4.37:g.2698260C>T			2668058	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	CCDS58875.1																																																																																				0.512	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		T	2698260	C	T	2698260	2	4	232	1	0	0	0	0	0	0	0	1	5524	639	23	1		1	FAM193A	4	2698260	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09		2698260	188456016	37	13140											
UBE2K	3093	genome.wustl.edu	37	4	39747381	39747385	+	Frame_Shift_Del	DEL	ACCAA	ACCAA	-			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	ACCAA	ACCAA	ACCAA	-	ACCAA	ACCAA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr4:39747381_39747385delACCAA	ENST00000261427.5	+	3	451_455	c.167_171delACCAA	c.(166-171)taccaafs	p.YQ56fs	UBE2K_ENST00000503368.1_Intron|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000445950.2_Frame_Shift_Del_p.YQ56fs|UBE2K_ENST00000295963.6_Frame_Shift_Del_p.YQ56fs	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	56					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)	p.Y56fs*12(1)		large_intestine(1)|lung(1)|ovary(2)	4						GGAGGAAGATACCAACTAGAGATAA	0.312																																					NSCLC(101;689 1592 16105 29682 31745)											1	Deletion - Frameshift(1)	ovary(1)	4																																								39423780	SO:0001589	frameshift_variant	3093			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"Ubiquitin-conjugating enzymes E2"	4914	protein-coding gene	gene with protein product		602846	"huntingtin interacting protein 2", "ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.167_171delACCAA	4.37:g.39747381_39747385delACCAA	ENSP00000261427:p.Tyr56fs		39423776	A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Frame_Shift_Del	DEL	ENST00000261427.5	37	CCDS33976.1																																																																																				0.312	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339		-	39747385	ACCAA	-	39747381	7	5	232	1	0	1	0	1	0	0	0	0	16862	391	14	0	177	0	UBE2K	4	39747381	Frame_Shift_Del	DEL	ACCAA	TCGA-24-1469-01A-01W-0553-09	37049121	39747381	151406895	38	13141											
GRXCR1	389207	genome.wustl.edu	37	4	42895288	42895288	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr4:42895288T>A	ENST00000399770.2	+	1	5	c.5T>A	c.(4-6)cTt>cAt	p.L2H	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	2					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.L2H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTGACCATGCTTAAAAGGGAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	4											84	89	87					4																	42895288		2024	4187	6211	42590045	SO:0001583	missense	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.5T>A	4.37:g.42895288T>A	ENSP00000382670:p.Leu2His		42590045		Missense_Mutation	SNP	ENST00000399770.2	37	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971550	0.34754	.	.	ENSG00000215203	ENST00000399770	T	0.30714	1.52	5.61	5.61	0.85477	.	0.417188	0.21838	U	0.068375	T	0.26738	0.0654	N	0.22421	0.69	0.20975	N	0.999816	P	0.46327	0.876	B	0.43360	0.417	T	0.15867	-1.0422	10	0.72032	D	0.01	-1.9946	15.0009	0.71469	0.0:0.0:0.0:1.0	.	2	A8MXD5	GRCR1_HUMAN	H	2	ENSP00000382670:L2H	ENSP00000382670:L2H	L	+	2	0	GRXCR1	42590045	0.995000	0.38212	0.830000	0.32933	0.006000	0.05464	5.558000	0.67319	2.135000	0.66039	0.528000	0.53228	CTT		0.488	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		A	42895288	T	A	42895288	3	1	232	1	0	0	0	0	1	0	0	0	6812	1609	56	5	7	5	GRXCR1	4	42895288	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	3147907	42895288	148258988	39	13142											
LPHN3	23284	genome.wustl.edu	37	4	62813971	62813971	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr4:62813971C>G	ENST00000514591.1	+	16	2907	c.2578C>G	c.(2578-2580)Ctg>Gtg	p.L860V	LPHN3_ENST00000506746.1_Missense_Mutation_p.L928V|LPHN3_ENST00000506720.1_Missense_Mutation_p.L928V|LPHN3_ENST00000508693.1_Missense_Mutation_p.L928V|LPHN3_ENST00000512091.2_Missense_Mutation_p.L860V|LPHN3_ENST00000514157.1_Missense_Mutation_p.L860V|LPHN3_ENST00000511324.1_Missense_Mutation_p.L928V|LPHN3_ENST00000507164.1_Missense_Mutation_p.L928V|LPHN3_ENST00000506700.1_Missense_Mutation_p.L860V|LPHN3_ENST00000508946.1_Missense_Mutation_p.L860V|LPHN3_ENST00000545650.1_Missense_Mutation_p.L860V|LPHN3_ENST00000507625.1_Missense_Mutation_p.L928V|LPHN3_ENST00000514996.1_Missense_Mutation_p.L860V|LPHN3_ENST00000509896.1_Missense_Mutation_p.L928V|LPHN3_ENST00000504896.1_Missense_Mutation_p.L860V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	847					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTTGCAGTACTGATGGCACA	0.353																																																0			4											105	95	98					4																	62813971		1902	4124	6026	62496566	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2578C>G	4.37:g.62813971C>G	ENSP00000422533:p.Leu860Val		62496566	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.16|18.16	3.561349|3.561349	0.65538|0.65538	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.74632|.	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86|.	5.79|5.79	-0.546|-0.546	0.11840|0.11840	GPS domain (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.82559|0.82559	0.5063|0.5063	H|H	0.94964|0.94964	3.605|3.605	0.44547|0.44547	D|D	0.997504|0.997504	D;D;D|.	0.76494|.	0.999;0.999;0.998|.	D;D;D|.	0.80764|.	0.994;0.994;0.99|.	D|D	0.83940|0.83940	0.0311|0.0311	10|5	0.87932|.	D|.	0|.	.|.	10.5153|10.5153	0.44885|0.44885	0.0:0.5607:0.0:0.4393|0.0:0.5607:0.0:0.4393	.|.	860;847;860|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	V|S	860;860;928;928;860;860;847;860;928;928;928;860;860;860;928;928;860|317	ENSP00000423388:L860V;ENSP00000422533:L860V;ENSP00000423787:L928V;ENSP00000425033:L928V;ENSP00000424120:L860V;ENSP00000439831:L860V;ENSP00000421476:L928V;ENSP00000424030:L928V;ENSP00000421372:L928V;ENSP00000425201:L860V;ENSP00000423434:L860V;ENSP00000421627:L860V;ENSP00000420931:L928V;ENSP00000425884:L928V;ENSP00000424258:L860V|.	ENSP00000280009:L860V|.	L|T	+|+	1|2	2|0	LPHN3|LPHN3	62496566|62496566	0.849000|0.849000	0.29639|0.29639	0.924000|0.924000	0.36721|0.36721	0.983000|0.983000	0.72400|0.72400	1.577000|1.577000	0.36515|0.36515	-0.000000|-0.000000	0.14550|0.14550	0.563000|0.563000	0.77884|0.77884	CTG|ACT		0.353	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			G	62813971	C	G	62813971	3	3	232	1	0	0	0	0	1	0	0	0	8917	564	20	3	2632	3	LPHN3	4	62813971	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	19918683	62813971	128340305	40	13143											
FRAS1	80144	genome.wustl.edu	37	4	79158685	79158685	+	Missense_Mutation	SNP	G	G	A	rs568676550		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr4:79158685G>A	ENST00000325942.6	+	3	570	c.130G>A	c.(130-132)Gat>Aat	p.D44N	FRAS1_ENST00000264899.6_Missense_Mutation_p.D44N|FRAS1_ENST00000264895.6_Missense_Mutation_p.D44N	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	44	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.D44N(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGGAAGCCCGATTCATGCCA	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		19895	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4											80	79	79					4																	79158685		1983	4160	6143	79377709	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.130G>A	4.37:g.79158685G>A	ENSP00000326330:p.Asp44Asn		79377709	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772688	0.90108	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674	T;T;T	0.68903	-0.36;-0.36;-0.36	5.14	5.14	0.70334	.	0.133258	0.49305	D	0.000154	T	0.81456	0.4826	M	0.71920	2.185	0.50632	D	0.999887	D;D	0.89917	1.0;1.0	D;D	0.83275	0.951;0.996	T	0.83078	-0.0139	10	0.66056	D	0.02	.	17.7499	0.88430	0.0:0.0:1.0:0.0	.	44;44	E9PHH6;A2RRR8	.;.	N	44	ENSP00000326330:D44N;ENSP00000264895:D44N;ENSP00000264899:D44N	ENSP00000264895:D44N	D	+	1	0	FRAS1	79377709	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.876000	0.63079	2.560000	0.86352	0.467000	0.42956	GAT		0.448	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			A	79158685	G	A	79158685	3	1	232	1	0	0	0	0	1	0	0	0	6042	1058	37	1	140	1	FRAS1	4	79158685	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	16344714	79158685	111995591	41	13144											
FAT4	79633	genome.wustl.edu	37	4	126329631	126329631	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr4:126329631G>A	ENST00000394329.3	+	4	5615	c.5602G>A	c.(5602-5604)Gat>Aat	p.D1868N	FAT4_ENST00000335110.5_Missense_Mutation_p.D166N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1868	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1868N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCCACGGATGATGACTCTGG	0.328																																																2	Substitution - Missense(2)	ovary(2)	4											109	111	110					4																	126329631		2202	4300	6502	126549081	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5602G>A	4.37:g.126329631G>A	ENSP00000377862:p.Asp1868Asn		126549081	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998369	0.35226	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.50548	0.74;0.74	5.03	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.35320	U	0.003289	T	0.35068	0.0919	N	0.11756	0.17	0.37899	D	0.930976	P;B	0.35139	0.486;0.387	B;B	0.42462	0.268;0.388	T	0.28038	-1.0056	10	0.18710	T	0.47	.	14.8671	0.70425	0.0:0.1441:0.8559:0.0	.	166;1868	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	N	1868;166	ENSP00000377862:D1868N;ENSP00000335169:D166N	ENSP00000335169:D166N	D	+	1	0	FAT4	126549081	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.478000	0.60230	2.337000	0.79520	0.591000	0.81541	GAT		0.328	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126329631	G	A	126329631	3	1	232	1	0	0	0	0	1	0	0	0	5692	1290	45	2	5616	2	FAT4	4	126329631	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	47170946	126329631	64824645	42	13145											
WWC2	80014	genome.wustl.edu	37	4	184166646	184166646	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr4:184166646C>T	ENST00000403733.3	+	6	879	c.680C>T	c.(679-681)tCt>tTt	p.S227F	WWC2_ENST00000378925.3_Missense_Mutation_p.S129F|WWC2_ENST00000448232.2_Missense_Mutation_p.S227F|WWC2_ENST00000513834.1_Missense_Mutation_p.S227F|WWC2_ENST00000504005.1_Intron	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	227					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.S227F(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAACTAAAATCTATCAGAAAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											47	47	47					4																	184166646		2203	4300	6503	184403640	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.680C>T	4.37:g.184166646C>T	ENSP00000384222:p.Ser227Phe		184403640	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897119	0.91962	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232	T;T;T;T	0.13196	3.38;2.61;3.4;3.25	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	T	0.35480	0.0933	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.71184	0.972	T	0.02713	-1.1120	10	0.72032	D	0.01	-15.6497	19.0333	0.92967	0.0:1.0:0.0:0.0	.	227	Q6AWC2	WWC2_HUMAN	F	227;129;227;227	ENSP00000384222:S227F;ENSP00000368205:S129F;ENSP00000425054:S227F;ENSP00000398577:S227F	ENSP00000368205:S129F	S	+	2	0	WWC2	184403640	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.416000	0.80143	2.793000	0.96121	0.655000	0.94253	TCT		0.368	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		T	184166646	C	T	184166646	3	4	232	1	0	0	0	0	1	0	0	0	17412	913	32	2	702	2	WWC2	4	184166646	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	57837015	184166646	6987630	43	13146											
IL6ST	3572	genome.wustl.edu	37	5	55259234	55259234	+	Silent	SNP	T	T	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr5:55259234T>A	ENST00000381298.2	-	7	1071	c.759A>T	c.(757-759)atA>atT	p.I253I	IL6ST_ENST00000381294.3_Silent_p.I253I|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000522633.2_Silent_p.I253I|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Silent_p.I253I|IL6ST_ENST00000336909.5_Silent_p.I253I|IL6ST_ENST00000381293.2_Silent_p.I87I|IL6ST_ENST00000536319.1_Silent_p.I253I|IL6ST_ENST00000381287.4_Silent_p.I253I	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.I253I(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTTTAGTATTATAACACTCT	0.358			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	1	Substitution - coding silent(1)	ovary(1)	5											86	89	88					5																	55259234		2203	4297	6500	55294991	SO:0001819	synonymous_variant	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.759A>T	5.37:g.55259234T>A			55294991	A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	CCDS3971.1																																																																																				0.358	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		A	55259234	T	A	55259234	2	1	232	1	0	0	0	0	0	0	0	1	7703	1744	61	5		5	IL6ST	5	55259234	Silent	SNP	T	TCGA-24-1469-01A-01W-0553-09		55259234	125656026	44	13147											
HEXB	3074	genome.wustl.edu	37	5	74014631	74014631	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr5:74014631G>C	ENST00000261416.7	+	11	1369	c.1252G>C	c.(1252-1254)Ggc>Cgc	p.G418R	GFM2_ENST00000515125.1_5'Flank|HEXB_ENST00000513539.1_Intron|HEXB_ENST00000511181.1_Missense_Mutation_p.G193R|HEXB_ENST00000509579.1_5'Flank	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	418					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G418R(1)		endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GCTTGCGCCGGGCACAATAGT	0.393																																					Melanoma(66;841 1270 13391 18706 27225)											1	Substitution - Missense(1)	ovary(1)	5											119	113	115					5																	74014631		2203	4300	6503	74050387	SO:0001583	missense	3074			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.1252G>C	5.37:g.74014631G>C	ENSP00000261416:p.Gly418Arg		74050387		Missense_Mutation	SNP	ENST00000261416.7	37	CCDS4022.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.32|14.32	2.498849|2.498849	0.44455|0.44455	.|.	.|.	ENSG00000049860|ENSG00000049860	ENST00000513336|ENST00000511181;ENST00000261416	.|D;D	.|0.90444	.|-2.67;-2.67	6.07|6.07	4.23|4.23	0.50019|0.50019	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.225617|0.225617	0.52532|0.52532	D|D	0.000080|0.000080	D|D	0.89312|0.89312	0.6679|0.6679	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	.|P	.|0.48694	.|0.914	.|P	.|0.49252	.|0.604	D|D	0.89801|0.89801	0.3975|0.3975	6|10	.|0.66056	.|D	.|0.02	-9.7573|-9.7573	12.0717|12.0717	0.53620|0.53620	0.0653:0.1215:0.8132:0.0|0.0653:0.1215:0.8132:0.0	.|.	.|418	.|P07686	.|HEXB_HUMAN	A|R	63|193;418	.|ENSP00000426285:G193R;ENSP00000261416:G418R	.|ENSP00000261416:G418R	G|G	+|+	2|1	0|0	HEXB|HEXB	74050387|74050387	1.000000|1.000000	0.71417|0.71417	0.538000|0.538000	0.28064|0.28064	0.360000|0.360000	0.29518|0.29518	6.366000|6.366000	0.73095|0.73095	1.572000|1.572000	0.49736|0.49736	0.650000|0.650000	0.86243|0.86243	GGG|GGC		0.393	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		C	74014631	G	C	74014631	3	2	232	1	0	0	0	0	1	0	0	0	7074	1232	43	3	1294	3	HEXB	5	74014631	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	18755397	74014631	106900629	45	13148											
F2RL2	2151	genome.wustl.edu	37	5	75919040	75919040	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr5:75919040A>C	ENST00000296641.4	-	1	219	c.16T>G	c.(16-18)Ttt>Gtt	p.F6V	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	6					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)	p.F6V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GCAGCTGCAAAGATGAGGGCT	0.453																																																1	Substitution - Missense(1)	ovary(1)	5											130	132	131					5																	75919040		2203	4300	6503	75954796	SO:0001583	missense	2151			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.16T>G	5.37:g.75919040A>C	ENSP00000296641:p.Phe6Val		75954796	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229884	0.39399	.	.	ENSG00000164220	ENST00000296641	T	0.63096	-0.02	4.99	2.51	0.30379	.	0.355588	0.23142	N	0.051451	T	0.39627	0.1085	N	0.19112	0.55	0.09310	N	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.16512	-1.0400	10	0.18710	T	0.47	-1.2128	6.0163	0.19605	0.7486:0.1645:0.0868:0.0	.	6	O00254	PAR3_HUMAN	V	6	ENSP00000296641:F6V	ENSP00000296641:F6V	F	-	1	0	F2RL2	75954796	0.006000	0.16342	0.007000	0.13788	0.484000	0.33280	0.494000	0.22467	0.312000	0.23038	0.477000	0.44152	TTT		0.453	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			C	75919040	A	C	75919040	3	2	232	1	0	0	0	0	1	0	0	0	5345	72	3	5	1116	5	F2RL2	5	75919040	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	1904409	75919040	104996220	46	13149											
PCDHA5	56143	genome.wustl.edu	37	5	140202551	140202551	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr5:140202551G>A	ENST00000529859.1	+	1	1191	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	PCDHA5_ENST00000378126.3_Silent_p.V397V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.V397V	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V397V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGCTGGTGTCCACCTTCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	5											147	134	139					5																	140202551		2203	4300	6503	140182735	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1191G>A	5.37:g.140202551G>A			140182735	O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																				0.612	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140202551	G	A	140202551	2	1	232	1	0	0	0	0	0	0	0	1	11527	1364	48	2		2	PCDHA5	5	140202551	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	64283511	140202551	40712709	47	13150											
HDAC3	8841	genome.wustl.edu	37	5	141008824	141008824	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr5:141008824C>G	ENST00000305264.3	-	7	605	c.526G>C	c.(526-528)Ggg>Cgg	p.G176R	AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	176	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G176R(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCTTGAACCCCGTCACCATGG	0.527																																																1	Substitution - Missense(1)	ovary(1)	5											127	114	118					5																	141008824		2203	4300	6503	140989008	SO:0001583	missense	8841			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.526G>C	5.37:g.141008824C>G	ENSP00000302967:p.Gly176Arg		140989008	D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428268	0.83667	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	D;D	0.96992	-4.2;-1.92	5.72	5.72	0.89469	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	H	0.99444	4.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98722	1.0709	10	0.87932	D	0	-16.636	19.4703	0.94961	0.0:1.0:0.0:0.0	.	101;176	E7ESJ6;O15379	.;HDAC3_HUMAN	R	176;101	ENSP00000302967:G176R;ENSP00000429099:G101R	ENSP00000302967:G176R	G	-	1	0	HDAC3	140989008	1.000000	0.71417	0.290000	0.24890	0.819000	0.46315	7.794000	0.85869	2.711000	0.92665	0.655000	0.94253	GGG		0.527	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		G	141008824	C	G	141008824	3	3	232	1	0	0	0	0	1	0	0	0	7008	652	23	3	796	3	HDAC3	5	141008824	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	806273	141008824	39906436	48	13151											
SPRY4	81848	genome.wustl.edu	37	5	141694585	141694585	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr5:141694585C>A	ENST00000434127.2	-	2	332	c.89G>T	c.(88-90)cGg>cTg	p.R30L	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.R53L	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	30					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R53L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGAGCCGGCTGTGGGA	0.617									Testicular Cancer, Familial Clustering of																																							1	Substitution - Missense(1)	ovary(1)	5											31	32	32					5																	141694585		2154	4250	6404	141674769	SO:0001583	missense	81848	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.89G>T	5.37:g.141694585C>A	ENSP00000399468:p.Arg30Leu		141674769	A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493154	0.84962	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661;ENST00000511815	T;T	0.69175	-0.38;-0.34	5.77	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.63843	1.955	0.58432	D	0.999996	D;D	0.76494	0.999;0.996	D;D	0.72075	0.976;0.924	T	0.80804	-0.1219	10	0.62326	D	0.03	-23.2798	14.5431	0.68011	0.0:0.9299:0.0:0.0701	.	30;30	Q9C004-2;Q9C004	.;SPY4_HUMAN	L	53;30;30;30	ENSP00000344967:R53L;ENSP00000399468:R30L	ENSP00000344967:R53L	R	-	2	0	SPRY4	141674769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.751000	0.68720	1.445000	0.47624	0.561000	0.74099	CGG		0.617	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			A	141694585	C	A	141694585	3	1	232	1	0	0	0	0	1	0	0	0	15110	652	23	3	814	3	SPRY4	5	141694585	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	685761	141694585	39220675	49	13152											
PDGFRB	5159	genome.wustl.edu	37	5	149500492	149500492	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr5:149500492G>C	ENST00000261799.4	-	18	3014	c.2545C>G	c.(2545-2547)Cga>Gga	p.R849G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	849	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.R849G(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATGTCTCGAGCCAGGCCA	0.587			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	1	Substitution - Missense(1)	ovary(1)	5											138	118	125					5																	149500492		2203	4300	6503	149480685	SO:0001583	missense	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2545C>G	5.37:g.149500492G>C	ENSP00000261799:p.Arg849Gly		149480685	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335275	0.81801	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.85171	-1.95	5.03	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000524	D	0.91175	0.7220	M	0.74258	2.255	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.91750	0.5411	10	0.87932	D	0	.	12.0371	0.53431	0.0:0.0:0.7082:0.2918	.	849;849	A8KAM8;P09619	.;PGFRB_HUMAN	G	849;519	ENSP00000261799:R849G	ENSP00000261799:R849G	R	-	1	2	PDGFRB	149480685	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	1.711000	0.37930	2.504000	0.84457	0.655000	0.94253	CGA		0.587	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		C	149500492	G	C	149500492	3	2	232	1	0	0	0	0	1	0	0	0	11662	1066	37	3	799	3	PDGFRB	5	149500492	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	7805907	149500492	31414768	50	13153											
SYCP2L	221711	genome.wustl.edu	37	6	10898328	10898328	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:10898328G>C	ENST00000283141.6	+	5	717	c.421G>C	c.(421-423)Gat>Cat	p.D141H	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	141						nucleus (GO:0005634)		p.D141H(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGTTATAGAAGATTTCTTTGA	0.433																																																1	Substitution - Missense(1)	ovary(1)	6											91	87	88					6																	10898328		1912	4130	6042	11006314	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.421G>C	6.37:g.10898328G>C	ENSP00000283141:p.Asp141His		11006314	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954207	0.34471	.	.	ENSG00000153157	ENST00000283141	T	0.27557	1.66	5.36	4.49	0.54785	.	0.000000	0.64402	D	0.000001	T	0.43831	0.1265	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49753	-0.8906	10	0.62326	D	0.03	-20.816	8.6838	0.34225	0.0812:0.1538:0.765:0.0	.	141	Q5T4T6	SYC2L_HUMAN	H	141	ENSP00000283141:D141H	ENSP00000283141:D141H	D	+	1	0	SYCP2L	11006314	1.000000	0.71417	0.764000	0.31436	0.009000	0.06853	3.773000	0.55333	1.233000	0.43693	0.557000	0.71058	GAT		0.433	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		C	10898328	G	C	10898328	3	2	232	1	0	0	0	0	1	0	0	0	15433	942	33	3	439	3	SYCP2L	6	10898328	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09		10898328	160216739	51	13154											
HIST1H2BO	8348	genome.wustl.edu	37	6	27861346	27861346	+	Missense_Mutation	SNP	G	G	A	rs114740219		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:27861346G>A	ENST00000303806.4	+	1	144	c.106G>A	c.(106-108)Gag>Aag	p.E36K	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	36					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E36K(1)									CAGCCGCAAAGAGAGTTACTC	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		18111	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6											138	128	132					6																	27861346		2203	4300	6503	27969325	SO:0001583	missense	8348			X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.106G>A	6.37:g.27861346G>A	ENSP00000303408:p.Glu36Lys		27969325	Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	CCDS4640.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.9	4.956126	0.92726	.	.	ENSG00000196331	ENST00000303806	T	0.22743	1.94	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.42471	0.1204	M	0.91354	3.2	0.45502	D	0.998467	D	0.69078	0.997	P	0.60173	0.87	T	0.57406	-0.7817	9	0.72032	D	0.01	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	36	P23527	H2B1O_HUMAN	K	36	ENSP00000303408:E36K	ENSP00000303408:E36K	E	+	1	0	HIST1H2BO	27969325	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	8.954000	0.93051	2.275000	0.75901	0.561000	0.74099	GAG		0.547	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		A	27861346	G	A	27861346	3	1	232	1	0	0	0	0	1	0	0	0	7154	943	33	2	108	2	HIST1H2BO	6	27861346	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	16963018	27861346	143253721	52	13155											
PGBD1	84547	genome.wustl.edu	37	6	28269716	28269716	+	Silent	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:28269716C>T	ENST00000405948.2	+	7	2505	c.2085C>T	c.(2083-2085)atC>atT	p.I695I	PGBD1_ENST00000259883.3_Silent_p.I695I	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	695						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I695I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGGCATTATCAGTCTGTGCT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	6											179	175	177					6																	28269716		2203	4300	6503	28377695	SO:0001819	synonymous_variant	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2085C>T	6.37:g.28269716C>T			28377695	Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	CCDS4648.1																																																																																				0.388	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			T	28269716	C	T	28269716	2	4	232	1	0	0	0	0	0	0	0	1	11780	816	29	2		2	PGBD1	6	28269716	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09	408370	28269716	142845351	53	13156											
TREML2	79865	genome.wustl.edu	37	6	41168739	41168739	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:41168739G>A	ENST00000483722.1	-	1	193	c.8C>T	c.(7-9)cCa>cTa	p.P3L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	3					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P62L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGGAAGGCTGGGGCCATGGT	0.647																																																1	Substitution - Missense(1)	ovary(1)	6											35	34	35					6																	41168739		2203	4300	6503	41276717	SO:0001583	missense	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.8C>T	6.37:g.41168739G>A	ENSP00000418767:p.Pro3Leu		41276717	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	17.36	3.368781	0.61624	.	.	ENSG00000112195	ENST00000483722	T	0.20598	2.06	5.19	4.3	0.51218	.	0.202302	0.24991	N	0.033999	T	0.05090	0.0136	L	0.29908	0.895	0.09310	N	1	P	0.37955	0.612	B	0.28784	0.094	T	0.20405	-1.0276	10	0.33141	T	0.24	-11.2644	10.205	0.43107	0.0974:0.0:0.9026:0.0	.	3	Q5T2D2	TRML2_HUMAN	L	3	ENSP00000418767:P3L	ENSP00000418767:P3L	P	-	2	0	TREML2	41276717	0.010000	0.17322	0.217000	0.23759	0.001000	0.01503	0.581000	0.23819	2.578000	0.87016	0.563000	0.77884	CCA		0.647	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		A	41168739	G	A	41168739	3	1	232	1	0	0	0	0	1	0	0	0	16473	1348	47	2	977	2	TREML2	6	41168739	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	12899023	41168739	129946328	54	13157											
ENPP4	22875	genome.wustl.edu	37	6	46107815	46107815	+	Silent	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:46107815T>C	ENST00000321037.4	+	2	725	c.495T>C	c.(493-495)aaT>aaC	p.N165N		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	165					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.N165N(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AAAGACTAAATAATATTACTA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	6											121	120	120					6																	46107815		2203	4300	6503	46215774	SO:0001819	synonymous_variant	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.495T>C	6.37:g.46107815T>C			46215774	A8K5G1|Q7L2N1	Silent	SNP	ENST00000321037.4	37	CCDS34468.1																																																																																				0.418	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			C	46107815	T	C	46107815	2	2	232	1	0	0	0	0	0	0	0	1	5132	1403	49	4		4	ENPP4	6	46107815	Silent	SNP	T	TCGA-24-1469-01A-01W-0553-09	4939076	46107815	125007252	55	13158											
PKHD1	5314	genome.wustl.edu	37	6	51732833	51732833	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:51732833C>A	ENST00000371117.3	-	48	7836	c.7561G>T	c.(7561-7563)Gca>Tca	p.A2521S	PKHD1_ENST00000340994.4_Missense_Mutation_p.A2521S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2521					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A2521S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAAATTGCTGCATGAGGAAAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	6											72	69	70					6																	51732833		2203	4299	6502	51840792	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7561G>T	6.37:g.51732833C>A	ENSP00000360158:p.Ala2521Ser		51840792	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727894	0.30593	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86956	-1.99;-2.19	5.67	3.87	0.44632	.	0.244841	0.35378	N	0.003247	T	0.68513	0.3009	L	0.44542	1.39	0.30110	N	0.80664	B;B;B	0.18461	0.012;0.012;0.028	B;B;B	0.14023	0.007;0.01;0.007	T	0.54057	-0.8350	10	0.15499	T	0.54	.	14.0659	0.64828	0.5061:0.4939:0.0:0.0	.	2521;2521;2521	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	2521	ENSP00000360158:A2521S;ENSP00000341097:A2521S	ENSP00000341097:A2521S	A	-	1	0	PKHD1	51840792	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.966000	0.29331	0.737000	0.32582	0.591000	0.81541	GCA		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51732833	C	A	51732833	3	1	232	1	0	0	0	0	1	0	0	0	11971	710	25	3	4782	3	PKHD1	6	51732833	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	5625018	51732833	119382234	56	13159											
PKHD1	5314	genome.wustl.edu	37	6	51882397	51882397	+	Missense_Mutation	SNP	C	C	T	rs151160618	byFrequency	TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:51882397C>T	ENST00000371117.3	-	34	5686	c.5411G>A	c.(5410-5412)cGt>cAt	p.R1804H	PKHD1_ENST00000340994.4_Missense_Mutation_p.R1804H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1804					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R1804H(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCCTCCTCACGCTTCAGGCC	0.522													C|||	2	0.000399361	0.0015	0	5008	,	,		19335	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123	107	112		5411,5411	-8.9	0	6	dbSNP_134	112	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	1804/4075,1804/3397	51882397	3,13003	2203	4300	6503	51990356	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5411G>A	6.37:g.51882397C>T	ENSP00000360158:p.Arg1804His		51990356	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	6.643	0.487201	0.12641	2.27E-4	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87103	-2.0;-2.21	5.77	-8.9	0.00782	.	1.248570	0.05165	N	0.498509	T	0.33352	0.0860	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50972	-0.8764	10	0.07325	T	0.83	.	16.1091	0.81247	0.0:0.1176:0.6942:0.1883	.	1804;1804	P08F94-2;P08F94	.;PKHD1_HUMAN	H	1804	ENSP00000360158:R1804H;ENSP00000341097:R1804H	ENSP00000341097:R1804H	R	-	2	0	PKHD1	51990356	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.829000	0.04415	-1.096000	0.03046	-0.294000	0.09567	CGT		0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51882397	C	T	51882397	3	4	232	1	0	0	0	0	1	0	0	0	11971	536	19	1	6988	1	PKHD1	6	51882397	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	149564	51882397	119232670	57	13160											
HMGCLL1	54511	genome.wustl.edu	37	6	55378917	55378917	+	Silent	SNP	G	G	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:55378917G>T	ENST00000398661.2	-	6	692	c.561C>A	c.(559-561)tcC>tcA	p.S187S	HMGCLL1_ENST00000274901.4_Silent_p.S157S|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Silent_p.S125S|HMGCLL1_ENST00000308161.4_Silent_p.S125S|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	187					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.S187S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTCTTCAATGGAACAGTTAA	0.363																																					Ovarian(35;840 893 7837 15538 42887)											1	Substitution - coding silent(1)	ovary(1)	6											77	72	74					6																	55378917		1820	4067	5887	55486876	SO:0001819	synonymous_variant	54511			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.561C>A	6.37:g.55378917G>T			55486876	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	ENST00000398661.2	37	CCDS43475.1																																																																																				0.363	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		T	55378917	G	T	55378917	2	4	232	1	0	0	0	0	0	0	0	1	7230	1335	47	3		3	HMGCLL1	6	55378917	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	3496520	55378917	115736150	58	13161											
MDN1	23195	genome.wustl.edu	37	6	90371845	90371845	+	Silent	SNP	A	A	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:90371845A>G	ENST00000369393.3	-	87	14641	c.14526T>C	c.(14524-14526)ggT>ggC	p.G4842G	MDN1_ENST00000428876.1_Silent_p.G4842G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4842					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.G4842G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACCTTGTCCACCATCATCAG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	6											427	375	392					6																	90371845		2203	4299	6502	90428566	SO:0001819	synonymous_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14526T>C	6.37:g.90371845A>G			90428566	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																				0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			G	90371845	A	G	90371845	2	3	232	1	0	0	0	0	0	0	0	1	9415	146	6	4		4	MDN1	6	90371845	Silent	SNP	A	TCGA-24-1469-01A-01W-0553-09	34992928	90371845	80743222	59	13162											
SIM1	6492	genome.wustl.edu	37	6	100838801	100838801	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:100838801C>G	ENST00000369208.3	-	12	2519	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	SIM1_ENST00000262901.4_Missense_Mutation_p.E579D			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	579	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E579E(1)|p.E579D(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTAATCTGTTCTCTTCTTCTT	0.448																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	6											87	86	86					6																	100838801		2203	4300	6503	100945522	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1737G>C	6.37:g.100838801C>G	ENSP00000358210:p.Glu579Asp		100945522	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197944	0.38806	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.39056	1.1;1.1	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.23846	0.0577	L	0.27053	0.805	0.50039	D	0.999842	P	0.52463	0.953	P	0.49752	0.621	T	0.05305	-1.0893	10	0.39692	T	0.17	.	7.6368	0.28272	0.0:0.8075:0.0:0.1925	.	579	P81133	SIM1_HUMAN	D	579	ENSP00000358210:E579D;ENSP00000262901:E579D	ENSP00000262901:E579D	E	-	3	2	SIM1	100945522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.723000	0.25939	2.759000	0.94783	0.557000	0.71058	GAG		0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		G	100838801	C	G	100838801	3	3	232	1	0	0	0	0	1	0	0	0	14326	912	32	3	567	3	SIM1	6	100838801	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	10466956	100838801	70276266	60	13163											
FRK	2444	genome.wustl.edu	37	6	116325145	116325145	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:116325145T>C	ENST00000606080.1	-	2	807	c.361A>G	c.(361-363)Atc>Gtc	p.I121V	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	121	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.I121V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GATCTTCCGATTGCTCCAAAG	0.343																																																1	Substitution - Missense(1)	ovary(1)	6											63	63	63					6																	116325145		2203	4299	6502	116431838	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.361A>G	6.37:g.116325145T>C	ENSP00000476145:p.Ile121Val		116431838	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.760154	0.31137	.	.	ENSG00000111816	ENST00000368626	D	0.91011	-2.77	5.97	4.81	0.61882	Src homology-3 domain (1);SH2 motif (4);	0.085603	0.47852	N	0.000220	T	0.81842	0.4908	M	0.64404	1.975	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79067	-0.1955	10	0.44086	T	0.13	.	9.5024	0.39026	0.0:0.1432:0.0:0.8568	.	121	P42685	FRK_HUMAN	V	121	ENSP00000357615:I121V	ENSP00000357615:I121V	I	-	1	0	FRK	116431838	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	2.343000	0.44001	1.087000	0.41251	0.533000	0.62120	ATC		0.343	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		C	116325145	T	C	116325145	3	2	232	1	0	0	0	0	1	0	0	0	6048	1493	52	4	1184	4	FRK	6	116325145	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	15486344	116325145	54789922	61	13164											
MYB	4602	genome.wustl.edu	37	6	135521506	135521506	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr6:135521506G>C	ENST00000367814.4	+	12	1726	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	MYB_ENST00000527615.1_Missense_Mutation_p.E514Q|MYB_ENST00000528774.1_Missense_Mutation_p.E632Q|MYB_ENST00000533624.1_Missense_Mutation_p.E479Q|MYB_ENST00000442647.2_Missense_Mutation_p.E511Q|MYB_ENST00000316528.8_Missense_Mutation_p.E514Q|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000341911.5_Missense_Mutation_p.E635Q|MYB_ENST00000534121.1_Missense_Mutation_p.E619Q|MYB_ENST00000525369.1_Missense_Mutation_p.E429Q|MYB_ENST00000534044.1_Missense_Mutation_p.E514Q	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	514					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)	p.E514Q(1)|p.E635Q(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AATTGTTGCTGAGTTTCAAGA	0.428			T	NFIB	adenoid cystic carcinoma																																		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	2	Substitution - Missense(2)	ovary(2)	6											113	112	112					6																	135521506		2203	4300	6503	135563199	SO:0001583	missense	4602				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1540G>C	6.37:g.135521506G>C	ENSP00000356788:p.Glu514Gln		135563199	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895134	0.72639	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	4.76	4.76	0.60689	C-myb, C-terminal (1);	0.341093	0.30869	N	0.008709	T	0.27384	0.0672	L	0.47716	1.5	0.27185	N	0.96056	B;P;B;B;B;B;B;B;P	0.37636	0.428;0.603;0.437;0.428;0.157;0.428;0.374;0.301;0.603	B;P;B;P;B;P;B;B;P	0.48166	0.27;0.462;0.187;0.569;0.104;0.569;0.264;0.209;0.462	T	0.29427	-1.0012	10	0.12430	T	0.62	-7.577	18.1285	0.89593	0.0:0.0:1.0:0.0	.	479;514;511;632;429;619;635;514;514	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	Q	635;511;514;514;514;514;429;632;619;514;479	ENSP00000339992:E635Q;ENSP00000410825:E511Q;ENSP00000326328:E514Q;ENSP00000356788:E514Q;ENSP00000433227:E514Q;ENSP00000435938:E429Q;ENSP00000434723:E632Q;ENSP00000432851:E619Q;ENSP00000435055:E514Q;ENSP00000436605:E479Q	ENSP00000237302:E514Q	E	+	1	0	MYB	135563199	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.506000	0.81665	2.363000	0.80096	0.655000	0.94253	GAG		0.428	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			C	135521506	G	C	135521506	3	2	232	1	0	0	0	0	1	0	0	0	10007	1291	45	3	1953	3	MYB	6	135521506	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	19196361	135521506	35593561	62	13165											
IGF2BP3	10643	genome.wustl.edu	37	7	23383391	23383391	+	Silent	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr7:23383391C>T	ENST00000258729.3	-	9	1379	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	341	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.E341E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCATGATCTCCTCCTCAGCTT	0.353																																																1	Substitution - coding silent(1)	ovary(1)	7											151	133	139					7																	23383391		2203	4300	6503	23349916	SO:0001819	synonymous_variant	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1023G>A	7.37:g.23383391C>T			23349916	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	CCDS5382.1																																																																																				0.353	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		T	23383391	C	T	23383391	2	4	232	1	0	0	0	0	0	0	0	1	7575	680	24	2		2	IGF2BP3	7	23383391	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09		23383391	135755272	63	13166											
SAMD9	54809	genome.wustl.edu	37	7	92732292	92732292	+	Missense_Mutation	SNP	C	C	A	rs372955426		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr7:92732292C>A	ENST00000379958.2	-	3	3388	c.3119G>T	c.(3118-3120)cGc>cTc	p.R1040L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R1040L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCATCGCGGTGTCTTGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	7											113	101	105					7																	92732292		2203	4300	6503	92570228	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3119G>T	7.37:g.92732292C>A	ENSP00000369292:p.Arg1040Leu		92570228	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492753	0.26774	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.46	2.64	0.31445	.	0.179206	0.27164	N	0.020622	T	0.32010	0.0815	L	0.55990	1.75	0.09310	N	1	D	0.59767	0.986	P	0.53266	0.722	T	0.07028	-1.0794	10	0.72032	D	0.01	-0.2488	7.5755	0.27933	0.0:0.7234:0.0:0.2766	.	1040	Q5K651	SAMD9_HUMAN	L	1040	ENSP00000369292:R1040L;ENSP00000414529:R1040L	ENSP00000369292:R1040L	R	-	2	0	SAMD9	92570228	0.431000	0.25546	0.077000	0.20336	0.333000	0.28666	0.937000	0.28951	1.249000	0.43950	0.609000	0.83330	CGC		0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		A	92732292	C	A	92732292	3	1	232	1	0	0	0	0	1	0	0	0	13829	768	27	3	1654	3	SAMD9	7	92732292	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	69348901	92732292	66406371	64	13167											
TRRAP	8295	genome.wustl.edu	37	7	98553771	98553771	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr7:98553771G>A	ENST00000359863.4	+	41	6128	c.5919G>A	c.(5917-5919)gtG>gtA	p.V1973V	TRRAP_ENST00000446306.3_Silent_p.V1954V|TRRAP_ENST00000355540.3_Silent_p.V1955V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1973					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.V1955V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCCGCAGGTGTACTACCCGG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	7											48	41	43					7																	98553771		2203	4300	6503	98391707	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5919G>A	7.37:g.98553771G>A			98391707	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717276	0.30413	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.26	3.14	0.36123	.	.	.	.	.	T	0.56543	0.1992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52793	-0.8528	4	.	.	.	.	7.766	0.28980	0.0:0.1155:0.4901:0.3944	.	.	.	.	Y	1695	.	.	C	+	2	0	TRRAP	98391707	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.963000	0.49184	1.338000	0.45544	0.561000	0.74099	TGT		0.652	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		A	98553771	G	A	98553771	2	1	232	1	0	0	0	0	0	0	0	1	16601	1364	48	2		2	TRRAP	7	98553771	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	5821479	98553771	60584892	65	13168											
PPP1R3A	5506	genome.wustl.edu	37	7	113558584	113558584	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr7:113558584T>A	ENST00000284601.3	-	1	536	c.468A>T	c.(466-468)ttA>ttT	p.L156F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	156	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.L156F(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACATATACTAACTTCTCAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											81	80	80					7																	113558584		2203	4299	6502	113345820	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.468A>T	7.37:g.113558584T>A	ENSP00000284601:p.Leu156Phe		113345820	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559070	0.27827	.	.	ENSG00000154415	ENST00000284601	T	0.62639	0.01	6.17	5.03	0.67393	Putative phosphatase regulatory subunit (2);	0.328654	0.29940	N	0.010812	T	0.45094	0.1325	N	0.17631	0.505	0.36896	D	0.89016	B	0.34147	0.438	B	0.39119	0.291	T	0.47209	-0.9135	10	0.24483	T	0.36	-0.0861	5.1232	0.14871	0.1296:0.1771:0.0:0.6933	.	156	Q16821	PPR3A_HUMAN	F	156	ENSP00000284601:L156F	ENSP00000284601:L156F	L	-	3	2	PPP1R3A	113345820	0.922000	0.31269	1.000000	0.80357	0.986000	0.74619	0.443000	0.21644	1.161000	0.42604	0.533000	0.62120	TTA		0.358	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113558584	T	A	113558584	3	1	232	1	0	0	0	0	1	0	0	0	12374	1519	53	5	2916	5	PPP1R3A	7	113558584	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	15004813	113558584	45580079	66	13169											
RBM28	55131	genome.wustl.edu	37	7	127953310	127953310	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr7:127953310T>C	ENST00000223073.2	-	18	2177	c.2063A>G	c.(2062-2064)aAa>aGa	p.K688R	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Missense_Mutation_p.K547R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	688					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K688R(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GGGCTTCACTTTGCCTTTGTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	7											267	224	239					7																	127953310		2203	4300	6503	127740546	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2063A>G	7.37:g.127953310T>C	ENSP00000223073:p.Lys688Arg		127740546	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909526	0.33721	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.25085	2.7;1.82	5.78	4.62	0.57501	.	0.095136	0.64402	N	0.000001	T	0.26304	0.0642	M	0.68952	2.095	0.45837	D	0.998703	B;B;B	0.28552	0.053;0.007;0.215	B;B;B	0.25405	0.038;0.007;0.06	T	0.03306	-1.1050	10	0.34782	T	0.22	-11.2624	10.0755	0.42358	0.0:0.0796:0.0:0.9204	.	547;688;547	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	R	688;547	ENSP00000223073:K688R;ENSP00000390517:K547R	ENSP00000223073:K688R	K	-	2	0	RBM28	127740546	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	3.320000	0.51991	1.015000	0.39444	0.533000	0.62120	AAA		0.498	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		C	127953310	T	C	127953310	3	2	232	1	0	0	0	0	1	0	0	0	13131	1841	64	4	224	4	RBM28	7	127953310	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	14394726	127953310	31185353	67	13170											
CHRM2	1129	genome.wustl.edu	37	7	136699656	136699656	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr7:136699656C>G	ENST00000445907.2	+	3	572	c.44C>G	c.(43-45)aCa>aGa	p.T15R	CHRM2_ENST00000401861.1_Missense_Mutation_p.T15R|CHRM2_ENST00000453373.1_Missense_Mutation_p.T15R|CHRM2_ENST00000397608.3_Missense_Mutation_p.T15R|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.T15R|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T15R	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	15					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.T15R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTGGCTCTTACAAGTCCTTAT	0.398																																																1	Substitution - Missense(1)	ovary(1)	7											100	99	99					7																	136699656		2203	4300	6503	136350196	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.44C>G	7.37:g.136699656C>G	ENSP00000399745:p.Thr15Arg		136350196	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	0.462	-0.888504	0.02511	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.33	2.32	0.28847	.	0.788603	0.11693	N	0.538671	T	0.16428	0.0395	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.22591	-1.0212	10	0.13853	T	0.58	-8.0095	11.8381	0.52338	0.1273:0.4324:0.4402:0.0	.	15	P08172	ACM2_HUMAN	R	15	ENSP00000399745:T15R;ENSP00000415386:T15R;ENSP00000319984:T15R;ENSP00000380733:T15R;ENSP00000384937:T15R;ENSP00000384401:T15R	ENSP00000319984:T15R	T	+	2	0	CHRM2	136350196	0.749000	0.28305	0.996000	0.52242	0.806000	0.45545	-0.067000	0.11579	0.614000	0.30107	-1.250000	0.01514	ACA		0.398	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			G	136699656	C	G	136699656	3	3	232	1	0	0	0	0	1	0	0	0	3377	478	17	3	46	3	CHRM2	7	136699656	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	8746346	136699656	22439007	68	13171											
CHRM2	1129	genome.wustl.edu	37	7	136700773	136700773	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr7:136700773G>T	ENST00000445907.2	+	3	1689	c.1161G>T	c.(1159-1161)agG>agT	p.R387S	CHRM2_ENST00000401861.1_Missense_Mutation_p.R387S|CHRM2_ENST00000453373.1_Missense_Mutation_p.R387S|CHRM2_ENST00000397608.3_Missense_Mutation_p.R387S|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.R387S|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.R387S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	387					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R387S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAGTCACCAGGACAATCTTGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											136	125	129					7																	136700773		2203	4300	6503	136351313	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1161G>T	7.37:g.136700773G>T	ENSP00000399745:p.Arg387Ser		136351313	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219146	0.58560	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.67	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.91510	3.215	0.80722	D	1	D	0.69078	0.997	D	0.71656	0.974	T	0.75482	-0.3302	10	0.62326	D	0.03	-11.4336	14.8105	0.69992	0.069:0.0:0.931:0.0	.	387	P08172	ACM2_HUMAN	S	387	ENSP00000399745:R387S;ENSP00000415386:R387S;ENSP00000319984:R387S;ENSP00000380733:R387S;ENSP00000384937:R387S;ENSP00000384401:R387S	ENSP00000319984:R387S	R	+	3	2	CHRM2	136351313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.180000	0.58296	1.402000	0.46780	0.655000	0.94253	AGG		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			T	136700773	G	T	136700773	3	4	232	1	0	0	0	0	1	0	0	0	3377	1165	41	3	1163	3	CHRM2	7	136700773	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	1117	136700773	22437890	69	13172											
RB1CC1	9821	genome.wustl.edu	37	8	53586648	53586648	+	Silent	SNP	A	A	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr8:53586648A>C	ENST00000025008.5	-	7	1282	c.759T>G	c.(757-759)tcT>tcG	p.S253S	RB1CC1_ENST00000539297.1_Silent_p.S253S|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.S253S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	253					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.S253S(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGGTTAACAAAGATTCGTTAG	0.418																																					GBM(180;1701 2102 13475 42023 52570)											1	Substitution - coding silent(1)	ovary(1)	8											278	258	265					8																	53586648		2203	4300	6503	53749201	SO:0001819	synonymous_variant	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.759T>G	8.37:g.53586648A>C			53749201	Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	CCDS34892.1																																																																																				0.418	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		C	53586648	A	C	53586648	2	2	232	1	0	0	0	0	0	0	0	1	13102	59	3	5		5	RB1CC1	8	53586648	Silent	SNP	A	TCGA-24-1469-01A-01W-0553-09		53586648	92777374	70	13173											
ASPH	444	genome.wustl.edu	37	8	62555948	62555948	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr8:62555948T>G	ENST00000379454.4	-	9	941	c.754A>C	c.(754-756)Aca>Cca	p.T252P	ASPH_ENST00000517847.2_Missense_Mutation_p.T238P|ASPH_ENST00000522835.1_Missense_Mutation_p.T195P|ASPH_ENST00000522919.1_Missense_Mutation_p.T65P|ASPH_ENST00000356457.5_Missense_Mutation_p.T252P|ASPH_ENST00000518068.1_Missense_Mutation_p.T209P|ASPH_ENST00000541428.1_Missense_Mutation_p.T223P|ASPH_ENST00000517903.1_Missense_Mutation_p.T238P|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000445642.3_Missense_Mutation_p.T238P	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	252	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.T252P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTAATACCTGTATCATGGTGC	0.323																																																1	Substitution - Missense(1)	ovary(1)	8											84	88	87					8																	62555948		2203	4300	6503	62718502	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.754A>C	8.37:g.62555948T>G	ENSP00000368767:p.Thr252Pro		62718502	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.063594	0.55432	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306	T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.31	-4.85	0.03142	Aspartyl beta-hydroxylase/Triadin domain (1);	0.935388	0.09070	N	0.853092	T	0.48132	0.1483	L	0.38175	1.15	0.09310	N	1	D;P;P;P;P;P;D;P;P;B	0.55800	0.973;0.91;0.757;0.85;0.951;0.787;0.958;0.531;0.757;0.005	P;P;P;P;P;B;P;B;P;B	0.57679	0.825;0.676;0.744;0.58;0.452;0.34;0.744;0.346;0.658;0.01	T	0.44711	-0.9310	10	0.56958	D	0.05	.	3.3157	0.07032	0.1069:0.2803:0.1172:0.4955	.	233;195;238;219;223;233;209;252;238;252	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	P	233;223;252;65;252;267;209;238;238;238;195;161	ENSP00000437864:T223P;ENSP00000368767:T252P;ENSP00000430516:T65P;ENSP00000348841:T252P;ENSP00000427823:T267P;ENSP00000429286:T209P;ENSP00000430245:T238P;ENSP00000394013:T238P;ENSP00000429954:T238P;ENSP00000429160:T195P	ENSP00000348841:T252P	T	-	1	0	ASPH	62718502	0.000000	0.05858	0.002000	0.10522	0.052000	0.14988	-1.252000	0.02880	-0.983000	0.03511	-0.408000	0.06270	ACA		0.323	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		G	62555948	T	G	62555948	3	3	232	1	0	0	0	0	1	0	0	0	1053	1638	57	5	1602	5	ASPH	8	62555948	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	8969300	62555948	83808074	71	13174											
COL15A1	1306	genome.wustl.edu	37	9	101767281	101767281	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr9:101767281G>A	ENST00000375001.3	+	9	1725	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	434	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.G434G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGCCCCCGGGGAGCTGGACC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	9											57	57	57					9																	101767281		2203	4300	6503	100807102	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1302G>A	9.37:g.101767281G>A			100807102	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.627	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101767281	G	A	101767281	2	1	232	1	0	0	0	0	0	0	0	1	3672	1219	43	2		2	COL15A1	9	101767281	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09		101767281	39446150	72	13175											
PTPN3	5774	genome.wustl.edu	37	9	112168801	112168801	+	Missense_Mutation	SNP	A	A	C	rs146077461		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr9:112168801A>C	ENST00000374541.2	-	18	1837	c.1733T>G	c.(1732-1734)tTc>tGc	p.F578C	PTPN3_ENST00000262539.3_Missense_Mutation_p.F424C|PTPN3_ENST00000394827.3_Missense_Mutation_p.F46C|PTPN3_ENST00000446349.1_Missense_Mutation_p.F402C|PTPN3_ENST00000412145.1_Missense_Mutation_p.F447C	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	578	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.F578C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCTTTGATGAACATCACCAC	0.572																																																1	Substitution - Missense(1)	ovary(1)	9											175	159	164					9																	112168801		2203	4300	6503	111208622	SO:0001583	missense	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1733T>G	9.37:g.112168801A>C	ENSP00000363667:p.Phe578Cys		111208622	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	A	32	5.176160	0.94846	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.63208	1.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;0.992	T	0.56848	-0.7911	10	0.87932	D	0	.	16.0229	0.80512	1.0:0.0:0.0:0.0	.	424;533;578	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	C	578;447;402;578;46;424	ENSP00000416654:F447C;ENSP00000395384:F402C;ENSP00000363667:F578C;ENSP00000378304:F46C;ENSP00000262539:F424C	ENSP00000262539:F424C	F	-	2	0	PTPN3	111208622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.417000	0.80156	2.189000	0.69895	0.459000	0.35465	TTC		0.572	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			C	112168801	A	C	112168801	3	2	232	1	0	0	0	0	1	0	0	0	12792	246	9	5	1044	5	PTPN3	9	112168801	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	10401520	112168801	29044630	73	13176											
UGCG	7357	genome.wustl.edu	37	9	114691947	114691947	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr9:114691947G>A	ENST00000374279.3	+	6	1176	c.726G>A	c.(724-726)gcG>gcA	p.A242A	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	242					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.A242A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGGCCAAAGCGATAGCTGACC	0.363																																																1	Substitution - coding silent(1)	ovary(1)	9											159	150	153					9																	114691947		2203	4300	6503	113731768	SO:0001819	synonymous_variant	7357			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"Glycosyltransferase family 2 domain containing"	12524	protein-coding gene	gene with protein product	"glucosylceramide synthase", "ceramide glucosyltransferase"	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.726G>A	9.37:g.114691947G>A			113731768	Q5T258	Silent	SNP	ENST00000374279.3	37	CCDS6782.1																																																																																				0.363	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		A	114691947	G	A	114691947	2	1	232	1	0	0	0	0	0	0	0	1	16939	1045	37	1		1	UGCG	9	114691947	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	2523146	114691947	26521484	74	13177											
OR1N2	138882	genome.wustl.edu	37	9	125315585	125315585	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr9:125315585G>C	ENST00000373688.2	+	1	195	c.137G>C	c.(136-138)gGc>gCc	p.G46A		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G46A(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTTCTGTTTGGCATCTTCCTT	0.522																																																1	Substitution - Missense(1)	ovary(1)	9											154	136	142					9																	125315585		2203	4300	6503	124355406	SO:0001583	missense	138882				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.137G>C	9.37:g.125315585G>C	ENSP00000362792:p.Gly46Ala		124355406	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.862837	0.00552	.	.	ENSG00000171501	ENST00000373688	T	0.00420	7.47	4.37	3.48	0.39840	.	0.145629	0.31507	N	0.007526	T	0.00241	0.0007	N	0.20986	0.625	0.27535	N	0.950964	B	0.21753	0.06	B	0.22753	0.041	T	0.34950	-0.9808	10	0.36615	T	0.2	.	5.5408	0.17038	0.097:0.0:0.6003:0.3027	.	46	Q8NGR9	OR1N2_HUMAN	A	46	ENSP00000362792:G46A	ENSP00000362792:G46A	G	+	2	0	OR1N2	124355406	0.000000	0.05858	0.687000	0.30102	0.022000	0.10575	0.209000	0.17435	1.050000	0.40346	-0.143000	0.13931	GGC		0.522	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			C	125315585	G	C	125315585	3	2	232	1	0	0	0	0	1	0	0	0	10970	1203	42	3	139	3	OR1N2	9	125315585	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	10623638	125315585	15897846	75	13178											
LARP4B	23185	genome.wustl.edu	37	10	875530	875530	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr10:875530C>T	ENST00000316157.3	-	10	960	c.920G>A	c.(919-921)cGg>cAg	p.R307Q		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	307	RRM.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.R307Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGCTTTTATCCGTGCCTGTTT	0.388																																																1	Substitution - Missense(1)	ovary(1)	10											98	80	86					10																	875530		2203	4300	6503	865530	SO:0001583	missense	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.920G>A	10.37:g.875530C>T	ENSP00000326128:p.Arg307Gln		865530	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788891	0.90367	.	.	ENSG00000107929	ENST00000316157	T	0.35605	1.3	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57347	-0.7827	10	0.72032	D	0.01	1.4752	19.7859	0.96437	0.0:1.0:0.0:0.0	.	307	Q92615	LAR4B_HUMAN	Q	307	ENSP00000326128:R307Q	ENSP00000326128:R307Q	R	-	2	0	LARP4B	865530	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	7.669000	0.83911	2.746000	0.94184	0.655000	0.94253	CGG		0.388	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		T	875530	C	T	875530	3	4	232	1	0	0	0	0	1	0	0	0	8631	652	23	1	1328	1	LARP4B	10	875530	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09		875530	134659217	76	13179											
DDX21	9188	genome.wustl.edu	37	10	70721880	70721880	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr10:70721880C>A	ENST00000354185.4	+	3	672	c.574C>A	c.(574-576)Ccc>Acc	p.P192T		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	192					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.P192T(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCTAATTTTCCCATATCTGA	0.318																																																1	Substitution - Missense(1)	ovary(1)	10											82	87	85					10																	70721880		2203	4298	6501	70391886	SO:0001583	missense	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.574C>A	10.37:g.70721880C>A	ENSP00000346120:p.Pro192Thr		70391886	B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544006	0.45280	.	.	ENSG00000165732	ENST00000354185	T	0.39056	1.1	5.46	4.55	0.56014	RNA helicase, DEAD-box type, Q motif (1);	0.328641	0.33346	N	0.005002	T	0.32941	0.0846	L	0.59436	1.845	0.50313	D	0.999869	P	0.39022	0.655	B	0.33521	0.165	T	0.05289	-1.0894	10	0.23302	T	0.38	-9.2872	8.7805	0.34789	0.0:0.7352:0.1339:0.1308	.	192	Q9NR30	DDX21_HUMAN	T	192	ENSP00000346120:P192T	ENSP00000346120:P192T	P	+	1	0	DDX21	70391886	0.551000	0.26497	1.000000	0.80357	0.990000	0.78478	0.644000	0.24766	2.726000	0.93360	0.655000	0.94253	CCC		0.318	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		A	70721880	C	A	70721880	3	1	232	1	0	0	0	0	1	0	0	0	4349	855	30	3	584	3	DDX21	10	70721880	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	69846350	70721880	64812867	77	13180											
USP54	159195	genome.wustl.edu	37	10	75302825	75302825	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr10:75302825G>A	ENST00000339859.4	-	5	540	c.440C>T	c.(439-441)gCc>gTc	p.A147V	USP54_ENST00000319786.7_Missense_Mutation_p.A147V|USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.A147V|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	147	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.A147V(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCAGTGTTGGGCAGTACATAT	0.388																																					Colon(195;880 2046 8854 25025 38456)											1	Substitution - Missense(1)	ovary(1)	10											201	188	192					10																	75302825		1877	4106	5983	74972831	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.440C>T	10.37:g.75302825G>A	ENSP00000345216:p.Ala147Val		74972831	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	36	5.854507	0.97030	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000319786;ENST00000413442	T;T;T	0.31769	1.48;1.48;1.48	6.05	6.05	0.98169	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	U	0.000001	T	0.54598	0.1868	M	0.66939	2.045	0.54753	D	0.999981	P;D;P	0.65815	0.477;0.995;0.919	P;P;P	0.62089	0.451;0.898;0.686	T	0.46816	-0.9164	10	0.49607	T	0.09	-7.4006	20.6013	0.99457	0.0:0.0:1.0:0.0	.	147;147;147	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	V	147	ENSP00000345216:A147V;ENSP00000386080:A147V;ENSP00000326547:A147V	ENSP00000326547:A147V	A	-	2	0	USP54	74972831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.878000	0.98634	0.650000	0.86243	GCC		0.388	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		A	75302825	G	A	75302825	3	1	232	1	0	0	0	0	1	0	0	0	17085	1203	42	2	4690	2	USP54	10	75302825	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	4580945	75302825	60231922	78	13181											
SLC17A6	57084	genome.wustl.edu	37	11	22380992	22380993	+	Silent	DNP	CC	CC	AT			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	CC	CC	CC	AT	CC	CC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr11:22380992_22380993CC>AT	ENST00000263160.3	+	4	929_930	c.492_493CC>AT	c.(490-495)acCCta>acATta	p.164_165TL>TL	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	164					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTACCTCTACCCTAAATATGCT	0.376																																																0			11																																								22337569	SO:0001819	synonymous_variant	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	Exception_encountered	11.37:g.22380992_22380993delinsAT			22337568	A6NKS2	Silent	DNP	ENST00000263160.3	37	CCDS7856.1																																																																																				0.376	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		AT	22380993	CC	AT	22380992	2	1	232	1	0	0	0	0	0	0	0	1	14424	610	22	3		3	SLC17A6	11	22380992	Silent	DNP	CC	TCGA-24-1469-01A-01W-0553-09		22380992	112625524	79	13182											
OR10Q1	219960	genome.wustl.edu	37	11	57995625	57995625	+	Silent	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr11:57995625C>T	ENST00000316770.2	-	1	765	c.723G>A	c.(721-723)cgG>cgA	p.R241R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R241R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGGAGAAGGCCCGGCGGCGGC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	11											60	56	58					11																	57995625		2201	4295	6496	57752201	SO:0001819	synonymous_variant	219960			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.723G>A	11.37:g.57995625C>T			57752201	Q6IFG4	Silent	SNP	ENST00000316770.2	37	CCDS31547.1																																																																																				0.632	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		T	57995625	C	T	57995625	2	4	232	1	0	0	0	0	0	0	0	1	10916	610	22	2		2	OR10Q1	11	57995625	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09	35614633	57995625	77010891	80	13183											
MAML2	84441	genome.wustl.edu	37	11	95712141	95712141	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr11:95712141G>A	ENST00000524717.1	-	5	4726	c.3442C>T	c.(3442-3444)Ctt>Ttt	p.L1148F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1148					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L1148F(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ATTTCATCAAGATTGATGTCT	0.383			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - Missense(1)	ovary(1)	11											59	57	58					11																	95712141		1844	4104	5948	95351789	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3442C>T	11.37:g.95712141G>A	ENSP00000434552:p.Leu1148Phe		95351789	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750311	0.69533	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.70045	-0.45;-0.45	5.72	5.72	0.89469	.	0.000000	0.53938	D	0.000042	T	0.80747	0.4682	M	0.74647	2.275	0.42790	D	0.993891	D	0.89917	1.0	D	0.85130	0.997	T	0.82639	-0.0358	10	0.87932	D	0	-20.6985	13.1196	0.59318	0.073:0.0:0.927:0.0	.	1148	Q8IZL2	MAML2_HUMAN	F	1148	ENSP00000434552:L1148F;ENSP00000412394:L1148F	ENSP00000412394:L1148F	L	-	1	0	MAML2	95351789	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.207000	0.58480	2.699000	0.92147	0.561000	0.74099	CTT		0.383	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			A	95712141	G	A	95712141	3	1	232	1	0	0	0	0	1	0	0	0	9206	942	33	2	32	2	MAML2	11	95712141	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	37716516	95712141	39294375	81	13184											
BIRC3	330	genome.wustl.edu	37	11	102195609	102195609	+	Silent	SNP	A	A	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr11:102195609A>G	ENST00000263464.3	+	2	3119	c.369A>G	c.(367-369)tcA>tcG	p.S123S	BIRC3_ENST00000532808.1_Silent_p.S123S	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	123					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S123S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CCACACACTCATTACTTCCGG	0.408			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	1	Substitution - coding silent(1)	ovary(1)	11											170	179	176					11																	102195609		2203	4299	6502	101700819	SO:0001819	synonymous_variant	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.369A>G	11.37:g.102195609A>G			101700819	Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	CCDS8315.1																																																																																				0.408	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102195609	A	G	102195609	2	3	232	1	0	0	0	0	0	0	0	1	1436	204	8	4		4	BIRC3	11	102195609	Silent	SNP	A	TCGA-24-1469-01A-01W-0553-09	6483468	102195609	32810907	82	13185											
DYNC2H1	79659	genome.wustl.edu	37	11	103075606	103075606	+	Silent	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr11:103075606C>T	ENST00000375735.2	+	52	8511	c.8367C>T	c.(8365-8367)ttC>ttT	p.F2789F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.F2789F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2789	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.F222F(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATTCAAACTTCATGATAAACT	0.338																																																1	Substitution - coding silent(1)	ovary(1)	11											57	54	55					11																	103075606		1826	4086	5912	102580816	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8367C>T	11.37:g.103075606C>T			102580816	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																				0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103075606	C	T	103075606	2	4	232	1	0	0	0	0	0	0	0	1	4846	825	29	2		2	DYNC2H1	11	103075606	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09	879997	103075606	31930910	83	13186											
DNM1L	10059	genome.wustl.edu	37	12	32884406	32884406	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr12:32884406G>T	ENST00000549701.1	+	11	1391	c.1317G>T	c.(1315-1317)atG>atT	p.M439I	DNM1L_ENST00000381000.4_Missense_Mutation_p.M452I|DNM1L_ENST00000553257.1_Missense_Mutation_p.M452I|DNM1L_ENST00000358214.5_Missense_Mutation_p.M452I|DNM1L_ENST00000452533.2_Missense_Mutation_p.M439I|DNM1L_ENST00000266481.6_Missense_Mutation_p.M439I|DNM1L_ENST00000414834.2_Missense_Mutation_p.M236I|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.M439I			O00429	DNM1L_HUMAN	dynamin 1-like	439	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.M439I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGAGGAAATGCAAAGGATCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											113	110	111					12																	32884406		2203	4300	6503	32775673	SO:0001583	missense	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1317G>T	12.37:g.32884406G>T	ENSP00000450399:p.Met439Ile		32775673	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342775	0.82022	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.14	3.25	0.37280	Dynamin central domain (1);	0.077496	0.85682	D	0.000000	T	0.69260	0.3091	L	0.39147	1.195	0.80722	D	1	P;P;P;P;P;P	0.52316	0.788;0.763;0.952;0.753;0.873;0.952	P;P;P;P;P;P	0.52957	0.577;0.507;0.714;0.511;0.588;0.714	T	0.71457	-0.4587	10	0.87932	D	0	.	9.9323	0.41530	0.0725:0.0:0.7897:0.1379	.	236;492;492;505;492;439	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	I	439;505;439;452;439;452;439;439;236;452	ENSP00000415131:M439I;ENSP00000449089:M452I;ENSP00000450399:M439I;ENSP00000350948:M452I;ENSP00000266481:M439I;ENSP00000448610:M439I;ENSP00000404160:M236I;ENSP00000370388:M452I	ENSP00000266479:M439I	M	+	3	0	DNM1L	32775673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	1.172000	0.42781	0.650000	0.86243	ATG		0.438	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		T	32884406	G	T	32884406	3	4	232	1	0	0	0	0	1	0	0	0	4671	1319	46	3	1359	3	DNM1L	12	32884406	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09		32884406	100967489	84	13187											
KRT2	3849	genome.wustl.edu	37	12	53039025	53039025	+	Silent	SNP	G	G	A	rs186531871		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr12:53039025G>A	ENST00000309680.3	-	9	1719	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	566	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G566G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAGAACCACCGCCAGAGCCAT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	12											180	181	181					12																	53039025		2203	4300	6503	51325292	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1698C>T	12.37:g.53039025G>A			51325292	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.577	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		A	53039025	G	A	53039025	2	1	232	1	0	0	0	0	0	0	0	1	8457	1074	38	1		1	KRT2	12	53039025	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	20154619	53039025	80812870	85	13188											
PPP1R12A	4659	genome.wustl.edu	37	12	80215936	80215936	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr12:80215936A>G	ENST00000450142.2	-	6	1093	c.827T>C	c.(826-828)aTt>aCt	p.I276T	PPP1R12A_ENST00000550107.1_Missense_Mutation_p.I276T|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.I276T|RP11-530C5.2_ENST00000548469.1_RNA|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.I189T|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.I276T	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	276					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.I276T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						ATATCCTAAAATGTCTTCATC	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											84	79	81					12																	80215936		1826	4082	5908	78740067	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.827T>C	12.37:g.80215936A>G	ENSP00000389168:p.Ile276Thr		78740067	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427788	0.83667	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330	T;T;T;T;T;T	0.39787	1.12;1.12;1.13;1.14;1.09;1.06	5.69	5.69	0.88448	Ankyrin repeat-containing domain (2);	0.103713	0.64402	D	0.000003	T	0.50990	0.1648	L	0.56769	1.78	0.80722	D	1	P;B;P;P	0.48407	0.91;0.031;0.489;0.854	P;B;B;B	0.49561	0.615;0.068;0.295;0.411	T	0.53208	-0.8471	10	0.56958	D	0.05	.	15.9548	0.79880	1.0:0.0:0.0:0.0	.	276;276;276;276	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	T	276;276;276;276;276;276;276;189;276;276	ENSP00000261207:I276T;ENSP00000389168:I276T;ENSP00000416769:I276T;ENSP00000449514:I189T;ENSP00000446855:I276T;ENSP00000446816:I276T	ENSP00000261207:I276T	I	-	2	0	PPP1R12A	78740067	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.720000	0.91442	2.171000	0.68590	0.528000	0.53228	ATT		0.338	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		G	80215936	A	G	80215936	3	3	232	1	0	0	0	0	1	0	0	0	12357	101	4	4	2345	4	PPP1R12A	12	80215936	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	27176911	80215936	53635959	86	13189											
POLR3B	55703	genome.wustl.edu	37	12	106757662	106757662	+	Silent	SNP	G	G	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr12:106757662G>T	ENST00000228347.4	+	2	309	c.87G>T	c.(85-87)ctG>ctT	p.L29L	POLR3B_ENST00000539066.1_5'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	29					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L29L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AATGGAGGCTGCTTCCAGCAT	0.284																																																1	Substitution - coding silent(1)	ovary(1)	12											73	75	74					12																	106757662		2203	4296	6499	105281792	SO:0001819	synonymous_variant	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.87G>T	12.37:g.106757662G>T			105281792	A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	CCDS9105.1																																																																																				0.284	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		T	106757662	G	T	106757662	2	4	232	1	0	0	0	0	0	0	0	1	12229	1306	46	3		3	POLR3B	12	106757662	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	26541726	106757662	27094233	87	13190											
CIT	11113	genome.wustl.edu	37	12	120210661	120210661	+	Silent	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr12:120210661T>C	ENST00000261833.7	-	17	2047	c.1995A>G	c.(1993-1995)gcA>gcG	p.A665A	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.A665A	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	665					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A666A(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCGCTCCTTTGCCTGGCGGA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	12											110	111	111					12																	120210661		2203	4300	6503	118695044	SO:0001819	synonymous_variant	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1995A>G	12.37:g.120210661T>C			118695044	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251884	0.22880	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.96	-11.9	0.00025	.	.	.	.	.	T	0.56659	0.2000	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73139	-0.4077	4	.	.	.	.	14.0763	0.64891	0.0645:0.099:0.6342:0.2023	.	.	.	.	R	293	.	.	Q	-	2	0	CIT	118695044	0.128000	0.22383	0.190000	0.23270	0.969000	0.65631	-0.866000	0.04245	-3.322000	0.00187	-1.179000	0.01719	CAA		0.532	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		C	120210661	T	C	120210661	2	2	232	1	0	0	0	0	0	0	0	1	3438	1799	63	4		4	CIT	12	120210661	Silent	SNP	T	TCGA-24-1469-01A-01W-0553-09	13452999	120210661	13641234	88	13191											
SACS	26278	genome.wustl.edu	37	13	23913133	23913133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr13:23913133G>A	ENST00000382292.3	-	9	5155	c.4882C>T	c.(4882-4884)Cag>Tag	p.Q1628*	SACS_ENST00000402364.1_Nonsense_Mutation_p.Q878*|SACS_ENST00000382298.3_Nonsense_Mutation_p.Q1628*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1628					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.Q1481*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAGGTAACTGACAGCCAAAT	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	13											115	110	112					13																	23913133		2203	4299	6502	22811133	SO:0001587	stop_gained	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4882C>T	13.37:g.23913133G>A	ENSP00000371729:p.Gln1628*		22811133	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	54	22.072886	0.99945	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.84	5.84	0.93424	.	0.121317	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	.	.	.	X	1628;878;1628	.	ENSP00000371729:Q1628X	Q	-	1	0	SACS	22811133	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	6.211000	0.72182	2.760000	0.94817	0.655000	0.94253	CAG		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		A	23913133	G	A	23913133	4	1	232	1	0	0	0	0	0	1	0	0	13807	1299	45	2	8861	2	SACS	13	23913133	Nonsense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09		23913133	91256745	89	13192											
B3GALTL	145173	genome.wustl.edu	37	13	31860859	31860859	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr13:31860859C>T	ENST00000343307.4	+	12	1116	c.967C>T	c.(967-969)Cat>Tat	p.H323Y		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	323					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.H323Y(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTTTCTAGGTCATTGTGGAAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	13											88	84	86					13																	31860859		2203	4300	6503	30758859	SO:0001583	missense	145173			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.967C>T	13.37:g.31860859C>T	ENSP00000343002:p.His323Tyr		30758859	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159274	0.78226	.	.	ENSG00000187676	ENST00000343307	T	0.68025	-0.3	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84042	0.0365	10	0.41790	T	0.15	-21.5555	18.0133	0.89231	0.0:1.0:0.0:0.0	.	323	Q6Y288	B3GLT_HUMAN	Y	323	ENSP00000343002:H323Y	ENSP00000343002:H323Y	H	+	1	0	B3GALTL	30758859	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.064000	0.71169	2.535000	0.85469	0.655000	0.94253	CAT		0.299	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		T	31860859	C	T	31860859	3	4	232	1	0	0	0	0	1	0	0	0	1252	826	29	2	1013	2	B3GALTL	13	31860859	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	7947726	31860859	83309019	90	13193											
RB1	5925	genome.wustl.edu	37	13	49039210	49039210	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr13:49039210G>C	ENST00000267163.4	+	22	2426	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	763	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCATGCAGAGACTGAAAACA	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	27	Whole gene deletion(15)|Unknown(12)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	13											67	69	68					13																	49039210		2203	4300	6503	47937211	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2288G>C	13.37:g.49039210G>C	ENSP00000267163:p.Arg763Thr		47937211	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491810	0.44249	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91295	-2.82	5.48	2.37	0.29283	Retinoblastoma-associated protein, B-box (1);Cyclin-like (2);	0.174731	0.48767	D	0.000163	T	0.78375	0.4273	N	0.08118	0	0.44745	D	0.997748	B	0.22080	0.064	B	0.19946	0.027	T	0.71689	-0.4517	10	0.72032	D	0.01	-10.9625	7.2647	0.26224	0.4489:0.0:0.5511:0.0	.	763	P06400	RB_HUMAN	T	742;763	ENSP00000267163:R763T	ENSP00000267163:R763T	R	+	2	0	RB1	47937211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.710000	0.54860	0.675000	0.31264	0.591000	0.81541	AGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			C	49039210	G	C	49039210	3	2	232	1	0	0	0	0	1	0	0	0	13101	942	33	3	2374	3	RB1	13	49039210	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	17178351	49039210	66130668	91	13194											
PCDH9	5101	genome.wustl.edu	37	13	67205458	67205458	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr13:67205458C>T	ENST00000377865.2	-	3	3358	c.3224G>A	c.(3223-3225)gGt>gAt	p.G1075D	RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1041D|PCDH9_ENST00000544246.1_Missense_Mutation_p.G1075D|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1041D			Q9HC56	PCDH9_HUMAN	protocadherin 9	1075					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1075D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGTTCCACTACCCACCGGCTC	0.552																																																1	Substitution - Missense(1)	ovary(1)	13											131	113	119					13																	67205458		2203	4300	6503	66103459	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3224G>A	13.37:g.67205458C>T	ENSP00000367096:p.Gly1075Asp		66103459	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129727	0.94473	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.56103	0.58;0.58;0.48;0.48	5.45	5.45	0.79879	.	0.175226	0.28403	N	0.015463	T	0.62183	0.2407	L	0.47190	1.495	0.53005	D	0.999969	D;D	0.53885	0.957;0.963	P;P	0.53954	0.738;0.574	T	0.63963	-0.6518	10	0.62326	D	0.03	.	19.2785	0.94042	0.0:1.0:0.0:0.0	.	1041;1075	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	D	1075;1075;1041;1041	ENSP00000442186:G1075D;ENSP00000367096:G1075D;ENSP00000401699:G1041D;ENSP00000332060:G1041D	ENSP00000332060:G1041D	G	-	2	0	PCDH9	66103459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.259000	0.78381	2.550000	0.86006	0.655000	0.94253	GGT		0.552	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		T	67205458	C	T	67205458	3	4	232	1	0	0	0	0	1	0	0	0	11518	507	18	2	497	2	PCDH9	13	67205458	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	18166248	67205458	47964420	92	13195											
METT11D1	64745	genome.wustl.edu	37	14	21464691	21464691	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr14:21464691G>A	ENST00000339374.6	+	13	1319	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	METTL17_ENST00000556670.2_Silent_p.K362K|SLC39A2_ENST00000554422.1_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Silent_p.K362K|SLC39A2_ENST00000298681.4_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	362					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)	p.K362K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTTAGAACAAGAAACCAAAGG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	14											48	48	48					14																	21464691		2203	4300	6503	20534531	SO:0001819	synonymous_variant	64745			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1086G>A	14.37:g.21464691G>A			20534531	Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	9.116	1.007796	0.19199	.	.	ENSG00000165792	ENST00000556733	.	.	.	4.59	3.62	0.41486	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54569	-0.8274	4	.	.	.	.	8.9689	0.35894	0.0:0.0:0.7622:0.2378	.	.	.	.	K	38	.	.	E	+	1	0	METTL17	20534531	0.975000	0.34042	1.000000	0.80357	0.992000	0.81027	0.835000	0.27531	2.392000	0.81423	0.655000	0.94253	GAA		0.453	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		A	21464691	G	A	21464691	2	1	232	1	0	0	0	0	0	0	0	1	9491	933	33	2		2	METT11D1	14	21464691	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09		21464691	85884849	93	13196											
SOS2	6655	genome.wustl.edu	37	14	50623835	50623835	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr14:50623835C>G	ENST00000216373.5	-	12	2213	c.1939G>C	c.(1939-1941)Gaa>Caa	p.E647Q	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.E614Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	647	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E647Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCTGGAATTTCAAACCTAAGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	14											74	68	70					14																	50623835		2203	4300	6503	49693585	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1939G>C	14.37:g.50623835C>G	ENSP00000216373:p.Glu647Gln		49693585	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493406	0.44352	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.51574	0.7;0.7	4.95	4.95	0.65309	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.045991	0.85682	D	0.000000	T	0.45696	0.1355	L	0.46614	1.455	0.58432	D	0.999999	B;B;B	0.27951	0.195;0.018;0.029	B;B;B	0.30029	0.11;0.016;0.029	T	0.38200	-0.9672	10	0.36615	T	0.2	.	18.5643	0.91112	0.0:1.0:0.0:0.0	.	614;677;647	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	Q	647;614	ENSP00000216373:E647Q;ENSP00000445328:E614Q	ENSP00000216373:E647Q	E	-	1	0	SOS2	49693585	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.890000	0.63178	2.441000	0.82636	0.585000	0.79938	GAA		0.408	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			G	50623835	C	G	50623835	3	3	232	1	0	0	0	0	1	0	0	0	14940	835	29	3	2107	3	SOS2	14	50623835	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	29159144	50623835	56725705	94	13197											
MPP5	64398	genome.wustl.edu	37	14	67790521	67790521	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr14:67790521A>T	ENST00000261681.4	+	14	2504	c.1843A>T	c.(1843-1845)Aat>Tat	p.N615Y	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.N581Y	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	615	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.N615Y(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAAGGCAAGAATCCAAAGGT	0.383																																																1	Substitution - Missense(1)	ovary(1)	14											70	70	70					14																	67790521		2203	4300	6503	66860274	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1843A>T	14.37:g.67790521A>T	ENSP00000261681:p.Asn615Tyr		66860274	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242484	0.79912	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.18016	2.24;2.24	5.64	5.64	0.86602	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.42686	1.345	0.80722	D	1	P	0.40515	0.719	P	0.51324	0.666	T	0.01087	-1.1456	10	0.59425	D	0.04	.	15.8662	0.79067	1.0:0.0:0.0:0.0	.	615	Q8N3R9	MPP5_HUMAN	Y	615;581	ENSP00000261681:N615Y;ENSP00000451488:N581Y	ENSP00000261681:N615Y	N	+	1	0	MPP5	66860274	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.122000	0.71608	2.153000	0.67306	0.377000	0.23210	AAT		0.383	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		T	67790521	A	T	67790521	3	4	232	1	0	0	0	0	1	0	0	0	9737	246	9	5	1889	5	MPP5	14	67790521	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	17166686	67790521	39559019	95	13198											
TTC7B	145567	genome.wustl.edu	37	14	91196491	91196491	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr14:91196491G>T	ENST00000328459.6	-	5	747	c.626C>A	c.(625-627)cCc>cAc	p.P209H	TTC7B_ENST00000357056.2_Missense_Mutation_p.P209H	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	209								p.P209H(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TTGATCGTGGGGAGCAGGGCC	0.403																																																1	Substitution - Missense(1)	ovary(1)	14											77	85	82					14																	91196491		2203	4300	6503	90266244	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.626C>A	14.37:g.91196491G>T	ENSP00000336127:p.Pro209His		90266244	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561206	0.65538	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766	T;T	0.36699	1.92;1.24	5.54	4.46	0.54185	.	0.270585	0.38778	N	0.001568	T	0.36441	0.0967	M	0.62723	1.935	0.37417	D	0.913478	P	0.34462	0.454	B	0.32980	0.156	T	0.45026	-0.9289	10	0.44086	T	0.13	-16.9309	14.1964	0.65675	0.0867:0.0:0.9132:0.0	.	209	Q86TV6	TTC7B_HUMAN	H	107;209;209;107	ENSP00000349564:P209H;ENSP00000336127:P209H	ENSP00000336127:P209H	P	-	2	0	TTC7B	90266244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.661000	0.61518	2.613000	0.88420	0.650000	0.86243	CCC		0.403	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			T	91196491	G	T	91196491	3	4	232	1	0	0	0	0	1	0	0	0	16713	1232	43	3	1969	3	TTC7B	14	91196491	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	23405970	91196491	16153049	96	13199											
SMEK1	55671	genome.wustl.edu	37	14	91931633	91931633	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr14:91931633C>A	ENST00000554943.1	-	11	1906	c.1791G>T	c.(1789-1791)atG>atT	p.M597I	SMEK1_ENST00000555462.1_Missense_Mutation_p.M358I|SMEK1_ENST00000554684.1_Missense_Mutation_p.M584I|SMEK1_ENST00000428424.2_Missense_Mutation_p.M358I|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000337238.4_Missense_Mutation_p.M584I			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	597					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.M597I(1)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TGGCAGAGTTCATCAGATTGT	0.299																																																1	Substitution - Missense(1)	ovary(1)	14											93	96	95					14																	91931633		2203	4300	6503	91001386	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1791G>T	14.37:g.91931633C>A	ENSP00000450883:p.Met597Ile		91001386	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.	.	.	.	.	.	.	.	.	.	C	12.82	2.052948	0.36181	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	6.17	6.17	0.99709	Armadillo-type fold (1);	0.033652	0.85682	D	0.000000	T	0.28366	0.0701	N	0.14661	0.345	0.58432	D	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.03773	-1.1005	10	0.44086	T	0.13	-18.5462	20.8794	0.99867	0.0:1.0:0.0:0.0	.	358;597;584	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	I	584;584;358;597;358;584	ENSP00000450864:M584I;ENSP00000337125:M584I;ENSP00000392704:M358I;ENSP00000450883:M597I;ENSP00000450891:M358I;ENSP00000452596:M584I	ENSP00000337125:M584I	M	-	3	0	SMEK1	91001386	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.623000	0.46435	2.941000	0.99782	0.655000	0.94253	ATG		0.299	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		A	91931633	C	A	91931633	3	1	232	1	0	0	0	0	1	0	0	0	14796	826	29	3	730	3	SMEK1	14	91931633	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	735142	91931633	15417907	97	13200											
ADSSL1	122622	genome.wustl.edu	37	14	105211240	105211240	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr14:105211240T>A	ENST00000330877.2	+	11	1250	c.1165T>A	c.(1165-1167)Ttc>Atc	p.F389I	ADSSL1_ENST00000332972.5_Missense_Mutation_p.F432I|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000555674.1_5'Flank|ADSSL1_ENST00000556623.1_5'Flank	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1									p.F432I(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GATTCCCTATTTCCCAGGTAT	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											64	59	61					14																	105211240		2203	4300	6503	104282285	SO:0001583	missense	122622			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.1165T>A	14.37:g.105211240T>A	ENSP00000331260:p.Phe389Ile		104282285		Missense_Mutation	SNP	ENST00000330877.2	37	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436515	0.62955	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.42513	0.97;0.97	4.67	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	L	0.58669	1.825	0.80722	D	1	P;P	0.49696	0.927;0.566	P;B	0.45558	0.485;0.348	T	0.33111	-0.9881	10	0.56958	D	0.05	-17.0419	10.4829	0.44704	0.1459:0.0:0.0:0.8541	.	432;389	Q8N142-2;Q8N142	.;PURA1_HUMAN	I	389;432	ENSP00000331260:F389I;ENSP00000333019:F432I	ENSP00000331260:F389I	F	+	1	0	ADSSL1	104282285	1.000000	0.71417	0.877000	0.34402	0.456000	0.32438	7.920000	0.87521	0.604000	0.29930	0.459000	0.35465	TTC		0.522	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			A	105211240	T	A	105211240	3	1	232	1	0	0	0	0	1	0	0	0	348	1841	64	5	1532	5	ADSSL1	14	105211240	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	13279607	105211240	2138300	98	13201											
OR4N4	283694	genome.wustl.edu	37	15	22382870	22382870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr15:22382870C>A	ENST00000328795.4	+	1	489	c.398C>A	c.(397-399)tCa>tAa	p.S133*	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S133*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGCACTGTTCAACTGTCATG	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	15											197	171	179					15																	22382870		2189	4262	6451	19884234	SO:0001587	stop_gained	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.398C>A	15.37:g.22382870C>A	ENSP00000332500:p.Ser133*		19884234	Q6IEY3|Q6IF56	Nonsense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.89	1.479402	0.26511	.	.	ENSG00000183706	ENST00000328795	.	.	.	3.2	2.27	0.28462	.	0.360086	0.20474	N	0.091635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-4.5245	4.9093	0.13814	0.2022:0.6772:0.0:0.1205	.	.	.	.	X	133	.	ENSP00000332500:S133X	S	+	2	0	OR4N4	19884234	0.000000	0.05858	0.104000	0.21259	0.021000	0.10359	-0.839000	0.04368	0.590000	0.29694	-1.109000	0.02080	TCA		0.532	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			A	22382870	C	A	22382870	4	1	232	1	0	0	0	0	0	1	0	0	11078	838	29	3	400	3	OR4N4	15	22382870	Nonsense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09		22382870	80148522	99	13202											
HERC2	8924	genome.wustl.edu	37	15	28459291	28459291	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr15:28459291G>A	ENST00000261609.7	-	41	6594	c.6486C>T	c.(6484-6486)ctC>ctT	p.L2162L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.L2162L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTTGTTGATGAGCCCATTCC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	15											64	61	62					15																	28459291		2203	4296	6499	26132886	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6486C>T	15.37:g.28459291G>A			26132886		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28459291	G	A	28459291	2	1	232	1	0	0	0	0	0	0	0	1	7058	1277	45	2		2	HERC2	15	28459291	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	6076421	28459291	74072101	100	13203											
SV2B	9899	genome.wustl.edu	37	15	91769919	91769919	+	Silent	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr15:91769919G>C	ENST00000394232.1	+	2	896	c.426G>C	c.(424-426)ctG>ctC	p.L142L	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.L142L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	142					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.L142L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACATGTGTCTGTCCAGTTCCA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	15											86	66	73					15																	91769919		2198	4298	6496	89570923	SO:0001819	synonymous_variant	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.426G>C	15.37:g.91769919G>C			89570923	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																				0.458	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		C	91769919	G	C	91769919	2	2	232	1	0	0	0	0	0	0	0	1	15418	1364	48	3		3	SV2B	15	91769919	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	63310628	91769919	10761473	101	13204											
ADCY9	115	genome.wustl.edu	37	16	4057505	4057505	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr16:4057505C>A	ENST00000294016.3	-	3	2286	c.1748G>T	c.(1747-1749)tGt>tTt	p.C583F	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	583					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.C583F(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCTCTGCACAGCTGCAGCG	0.527																																																1	Substitution - Missense(1)	ovary(1)	16											111	97	102					16																	4057505		2197	4300	6497	3997506	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1748G>T	16.37:g.4057505C>A	ENSP00000294016:p.Cys583Phe		3997506	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263090	0.80358	.	.	ENSG00000162104	ENST00000294016	D	0.83914	-1.78	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	L	0.44542	1.39	0.53005	D	0.999963	D	0.56035	0.974	P	0.54664	0.758	D	0.85835	0.1394	10	0.66056	D	0.02	.	15.3712	0.74568	0.0:1.0:0.0:0.0	.	583	O60503	ADCY9_HUMAN	F	583	ENSP00000294016:C583F	ENSP00000294016:C583F	C	-	2	0	ADCY9	3997506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.175000	0.58263	2.776000	0.95493	0.643000	0.83706	TGT		0.527	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4057505	C	A	4057505	3	1	232	1	0	0	0	0	1	0	0	0	301	478	17	3	2349	3	ADCY9	16	4057505	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09		4057505	86297248	102	13205											
PRPF8	10594	genome.wustl.edu	37	17	1578513	1578513	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:1578513C>G	ENST00000572621.1	-	19	3258	c.2993G>C	c.(2992-2994)cGc>cCc	p.R998P	PRPF8_ENST00000304992.6_Missense_Mutation_p.R998P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	998	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.R998P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CACGATGAGGCGCAGCAGCCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	17											210	144	166					17																	1578513		2203	4300	6503	1525263	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2993G>C	17.37:g.1578513C>G	ENSP00000460348:p.Arg998Pro		1525263	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145078	0.94603	.	.	ENSG00000174231	ENST00000304992	D	0.82433	-1.61	5.89	5.89	0.94794	RNA recognition motif, spliceosomal PrP8 (1);	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94914	0.8067	10	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	998	Q6P2Q9	PRP8_HUMAN	P	998	ENSP00000304350:R998P	ENSP00000304350:R998P	R	-	2	0	PRPF8	1525263	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.818000	0.86416	2.797000	0.96272	0.563000	0.77884	CGC		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			G	1578513	C	G	1578513	3	3	232	1	0	0	0	0	1	0	0	0	12578	768	27	3	4110	3	PRPF8	17	1578513	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09		1578513	79616697	103	13206											
CLDN7	1366	genome.wustl.edu	37	17	7164189	7164189	+	Silent	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:7164189C>A	ENST00000360325.7	-	2	773	c.339G>T	c.(337-339)gtG>gtT	p.V113V	CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000571881.2_Nonsense_Mutation_p.E105*|CLDN7_ENST00000538261.3_Silent_p.V113V|CLDN7_ENST00000397317.4_Silent_p.V113V|RP1-4G17.5_ENST00000577138.1_Intron	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	113					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.V113V(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						GGGCCTTCTTCACTTTGTCGT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	17											130	107	114					17																	7164189		2203	4300	6503	7104913	SO:0001819	synonymous_variant	1366			AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"Claudins"	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.339G>T	17.37:g.7164189C>A			7104913	B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Silent	SNP	ENST00000360325.7	37	CCDS11096.1																																																																																				0.612	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		A	7164189	C	A	7164189	2	1	232	1	0	0	0	0	0	0	0	1	3490	813	29	3		3	CLDN7	17	7164189	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09	5585676	7164189	74031021	104	13207											
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	232	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	414076	7578265	73616945	105	13208											
MYH1	4619	genome.wustl.edu	37	17	10404973	10404973	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:10404973T>C	ENST00000226207.5	-	26	3380	c.3286A>G	c.(3286-3288)Agc>Ggc	p.S1096G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1096					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1096G(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAATCTTGCTTTGCAGACCG	0.378																																																1	Substitution - Missense(1)	ovary(1)	17											114	107	109					17																	10404973		2203	4299	6502	10345698	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3286A>G	17.37:g.10404973T>C	ENSP00000226207:p.Ser1096Gly		10345698	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543061	0.45280	.	.	ENSG00000109061	ENST00000226207	T	0.78364	-1.17	5.51	4.42	0.53409	Myosin tail (1);	0.127524	0.34986	U	0.003537	T	0.69700	0.3140	L	0.42632	1.34	0.48901	D	0.999725	B	0.06786	0.001	B	0.04013	0.001	T	0.67726	-0.5596	10	0.48119	T	0.1	.	12.018	0.53326	0.0:0.0707:0.0:0.9292	.	1096	P12882	MYH1_HUMAN	G	1096	ENSP00000226207:S1096G	ENSP00000226207:S1096G	S	-	1	0	MYH1	10345698	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	2.105000	0.41825	2.221000	0.72209	0.528000	0.53228	AGC		0.378	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		C	10404973	T	C	10404973	3	2	232	1	0	0	0	0	1	0	0	0	10029	1609	56	4	2593	4	MYH1	17	10404973	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	2826708	10404973	70790237	106	13209											
KRT14	3861	genome.wustl.edu	37	17	39739812	39739812	+	Silent	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:39739812C>T	ENST00000167586.6	-	5	1130	c.1044G>A	c.(1042-1044)caG>caA	p.Q348Q		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	348	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.Q348Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CCATGCTGAGCTGGGACTGCA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	17											78	70	73					17																	39739812		2203	4300	6503	36993338	SO:0001819	synonymous_variant	3861			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1044G>A	17.37:g.39739812C>T			36993338	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	CCDS11400.1																																																																																				0.607	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		T	39739812	C	T	39739812	2	4	232	1	0	0	0	0	0	0	0	1	8451	796	28	2		2	KRT14	17	39739812	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09	29334839	39739812	41455398	107	13210											
EZH1	2145	genome.wustl.edu	37	17	40854917	40854917	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:40854917C>T	ENST00000428826.2	-	20	2282	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000415827.2_Missense_Mutation_p.E712K|EZH1_ENST00000592743.1_Missense_Mutation_p.E721K|EZH1_ENST00000590078.1_Missense_Mutation_p.E651K|EZH1_ENST00000585893.1_Missense_Mutation_p.E681K|EZH1_ENST00000435174.1_Missense_Mutation_p.E582K			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	721	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.			VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.E721K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AAGAGCTCTTCGCCAGCTTGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	17											184	177	179					17																	40854917		2203	4300	6503	38108443	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.2161G>A	17.37:g.40854917C>T	ENSP00000404658:p.Glu721Lys		38108443	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.932485	0.97116	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.87334	-2.24;-2.24	5.38	5.38	0.77491	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;0.989;0.991	D;P;P;P	0.77004	0.989;0.864;0.823;0.889	D	0.95156	0.8277	10	0.66056	D	0.02	.	19.3294	0.94280	0.0:1.0:0.0:0.0	.	582;681;727;721	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	K	724;721;681;582	ENSP00000404658:E721K;ENSP00000404071:E582K	ENSP00000264646:E724K	E	-	1	0	EZH1	38108443	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.651000	0.83577	2.804000	0.96469	0.462000	0.41574	GAA		0.512	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		T	40854917	C	T	40854917	3	4	232	1	0	0	0	0	1	0	0	0	5333	893	31	1	90	1	EZH1	17	40854917	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	1115105	40854917	40340293	108	13211											
BPTF	2186	genome.wustl.edu	37	17	65920687	65920688	+	Missense_Mutation	DNP	AG	AG	CC			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	AG	AG	AG	CC	AG	AG	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:65920687_65920688AG>CC	ENST00000321892.4	+	17	6172_6173	c.6111_6112AG>CC	c.(6109-6114)gcAGtt>gcCCtt	p.V2038L	BPTF_ENST00000424123.3_Missense_Mutation_p.V1899L|BPTF_ENST00000335221.5_Missense_Mutation_p.V2038L|BPTF_ENST00000306378.6_Missense_Mutation_p.V1912L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2038					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGCACAAGCAGTTGAGCAACA	0.441																																																0			17																																								63351150	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	Exception_encountered	17.37:g.65920687_65920688delinsCC	ENSP00000315454:p.Val2038Leu		63351149	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	DNP	ENST00000321892.4	37																																																																																					0.441	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		CC	65920688	AG	CC	65920687	3	2	232	1	0	0	0	0	1	0	0	0	1495	175	7	5	6177	5	BPTF	17	65920687	Missense_Mutation	DNP	AG	TCGA-24-1469-01A-01W-0553-09	25065770	65920687	15274523	109	13212											
CD300LB	124599	genome.wustl.edu	37	17	72527586	72527586	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:72527586G>C	ENST00000392621.1	-	1	19	c.15C>G	c.(13-15)tgC>tgG	p.C5W	CD300LB_ENST00000314401.3_Missense_Mutation_p.C5W	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	0					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C5W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GCTCTGGCTTGCACCTTCTGC	0.488																																																1	Substitution - Missense(1)	ovary(1)	17											79	71	74					17																	72527586		2203	4300	6503	70039181	SO:0001583	missense	124599			AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.15C>G	17.37:g.72527586G>C	ENSP00000376397:p.Cys5Trp		70039181	Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	3.690	-0.063635	0.07273	.	.	ENSG00000178789	ENST00000314401	T	0.05855	3.38	3.94	-1.71	0.08133	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.58721	0.844	T	0.32295	-0.9912	9	0.62326	D	0.03	.	2.3056	0.04173	0.3729:0.0:0.2218:0.4053	.	5	B4DQ71	.	W	5	ENSP00000317337:C5W	ENSP00000317337:C5W	C	-	3	2	CD300LB	70039181	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.175000	0.16762	-0.036000	0.13669	0.467000	0.42956	TGC		0.488	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		C	72527586	G	C	72527586	3	2	232	1	0	0	0	0	1	0	0	0	2999	1311	46	3	717	3	CD300LB	17	72527586	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	6606899	72527586	8667624	110	13213											
DNAH17	8632	genome.wustl.edu	37	17	76487591	76487591	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:76487591G>A	ENST00000585328.1	-	43	6712	c.6588C>T	c.(6586-6588)atC>atT	p.I2196I	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Silent_p.I2187I|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'Flank	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2187	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2196I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTCAAGGATGATCCACTTGG	0.597																																																1	Substitution - coding silent(1)	ovary(1)	17											122	133	129					17																	76487591		2083	4243	6326	73999186	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6588C>T	17.37:g.76487591G>A			73999186	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																					0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76487591	G	A	76487591	2	1	232	1	0	0	0	0	0	0	0	1	4601	1280	45	2		2	DNAH17	17	76487591	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	3960005	76487591	4707619	111	13214											
LGALS3BP	3959	genome.wustl.edu	37	17	76968632	76968632	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr17:76968632C>A	ENST00000262776.3	-	6	1092	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.W177C	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	262	BACK.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)	p.D262Y(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCATACAGGTCCAGGGGCATC	0.647																																					GBM(89;1105 1755 18102 21513)											1	Substitution - Missense(1)	ovary(1)	17											44	46	45					17																	76968632		2203	4300	6503	74480227	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.784G>T	17.37:g.76968632C>A	ENSP00000262776:p.Asp262Tyr		74480227	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922266	0.33908	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.69435	-0.4	3.65	2.66	0.31614	BTB/Kelch-associated (2);	0.361283	0.20261	N	0.095868	T	0.72867	0.3514	L	0.56769	1.78	0.80722	D	1	D	0.59767	0.986	P	0.60541	0.876	T	0.73408	-0.3992	10	0.66056	D	0.02	-29.2352	9.0787	0.36538	0.0:0.775:0.225:0.0	.	262	Q08380	LG3BP_HUMAN	Y	262;250	ENSP00000262776:D262Y	ENSP00000262776:D262Y	D	-	1	0	LGALS3BP	74480227	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	0.956000	0.29202	1.083000	0.41159	0.561000	0.74099	GAC		0.647	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		A	76968632	C	A	76968632	3	1	232	1	0	0	0	0	1	0	0	0	8744	855	30	3	977	3	LGALS3BP	17	76968632	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	481041	76968632	4226578	112	13215											
COLEC12	81035	genome.wustl.edu	37	18	346824	346824	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr18:346824C>G	ENST00000400256.3	-	5	1005	c.798G>C	c.(796-798)caG>caC	p.Q266H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	266					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.Q266H(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CAGCCAGCGTCTGCAAGCTCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	18											129	108	115					18																	346824		2203	4300	6503	336824	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.798G>C	18.37:g.346824C>G	ENSP00000383115:p.Gln266His		336824	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327915	0.41197	.	.	ENSG00000158270	ENST00000400256	T	0.79247	-1.25	6.08	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.82600	0.5072	L	0.34521	1.04	0.52501	D	0.999955	D	0.89917	1.0	D	0.83275	0.996	D	0.83790	0.0230	10	0.72032	D	0.01	-15.6066	16.2862	0.82722	0.0:0.9271:0.0:0.0729	.	266	Q5KU26	COL12_HUMAN	H	266	ENSP00000383115:Q266H	ENSP00000383115:Q266H	Q	-	3	2	COLEC12	336824	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.938000	0.40203	2.894000	0.99253	0.655000	0.94253	CAG		0.498	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			G	346824	C	G	346824	3	3	232	1	0	0	0	0	1	0	0	0	3712	912	32	3	1454	3	COLEC12	18	346824	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09		346824	77730424	113	13216											
GNAL	2774	genome.wustl.edu	37	18	11880995	11880995	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr18:11880995G>C	ENST00000423027.3	+	12	1328	c.1007G>C	c.(1006-1008)aGc>aCc	p.S336T	GNAL_ENST00000334049.6_Missense_Mutation_p.S413T|GNAL_ENST00000269162.5_Missense_Mutation_p.S336T|GNAL_ENST00000535121.1_Missense_Mutation_p.S336T|GNAL_ENST00000602628.1_Missense_Mutation_p.S129T			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	336					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.S413T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CAGAGGATCAGCACGGCCACC	0.617																																																1	Substitution - Missense(1)	ovary(1)	18											89	63	72					18																	11880995		2203	4300	6503	11870995	SO:0001583	missense	2774			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.1007G>C	18.37:g.11880995G>C	ENSP00000408489:p.Ser336Thr		11870995	B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005878	0.54254	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.55	5.55	0.83447	.	0.288780	0.52532	D	0.000066	D	0.92522	0.7625	L	0.43923	1.385	0.80722	D	1	D;B	0.71674	0.998;0.286	D;B	0.71870	0.975;0.316	D	0.93078	0.6489	10	0.87932	D	0	.	19.4958	0.95072	0.0:0.0:1.0:0.0	.	336;413	P38405;Q86XU3	GNAL_HUMAN;.	T	275;413;336;336;336;129	ENSP00000334051:S413T;ENSP00000439023:S336T;ENSP00000269162:S336T;ENSP00000408489:S336T	ENSP00000269162:S336T	S	+	2	0	GNAL	11870995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.788000	0.99064	2.591000	0.87537	0.563000	0.77884	AGC		0.617	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		C	11880995	G	C	11880995	3	2	232	1	0	0	0	0	1	0	0	0	6507	971	34	3	1433	3	GNAL	18	11880995	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	11534171	11880995	66196253	114	13217											
DSG2	1829	genome.wustl.edu	37	18	29116349	29116349	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr18:29116349A>T	ENST00000261590.8	+	11	1817	c.1608A>T	c.(1606-1608)aaA>aaT	p.K536N		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	536					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K536N(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCATTGACAAACCACCTGGCA	0.413																																																1	Substitution - Missense(1)	ovary(1)	18											65	64	64					18																	29116349		1907	4136	6043	27370347	SO:0001583	missense	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1608A>T	18.37:g.29116349A>T	ENSP00000261590:p.Lys536Asn		27370347	Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.946080	0.34377	.	.	ENSG00000046604	ENST00000261590	T	0.60299	0.2	5.89	-6.08	0.02151	.	0.642460	0.15013	N	0.285447	T	0.26846	0.0657	N	0.11560	0.145	0.41138	D	0.985939	P	0.34462	0.454	B	0.27380	0.079	T	0.02721	-1.1119	10	0.54805	T	0.06	.	7.5287	0.27671	0.2577:0.1054:0.5338:0.1031	.	536	Q14126	DSG2_HUMAN	N	536	ENSP00000261590:K536N	ENSP00000261590:K536N	K	+	3	2	DSG2	27370347	0.165000	0.22948	0.004000	0.12327	0.292000	0.27327	-0.121000	0.10643	-1.009000	0.03400	-0.250000	0.11733	AAA		0.413	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		T	29116349	A	T	29116349	3	4	232	1	0	0	0	0	1	0	0	0	4777	40	2	5	1650	5	DSG2	18	29116349	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	17235354	29116349	48960899	115	13218											
ZNF516	9658	genome.wustl.edu	37	18	74091912	74091912	+	Missense_Mutation	SNP	C	C	G	rs201138112		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr18:74091912C>G	ENST00000443185.2	-	4	2475	c.2158G>C	c.(2158-2160)Ggg>Cgg	p.G720R	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	720					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G720R(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTCCCTCCCCCAGAGTGTTCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	18											52	56	55					18																	74091912		2009	4183	6192	72220900	SO:0001583	missense	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2158G>C	18.37:g.74091912C>G	ENSP00000394757:p.Gly720Arg		72220900		Missense_Mutation	SNP	ENST00000443185.2	37		.	.	.	.	.	.	.	.	.	.	C	10.73	1.431864	0.25813	.	.	ENSG00000101493	ENST00000443185	T	0.09350	2.99	4.55	3.68	0.42216	.	0.836728	0.10332	N	0.687481	T	0.09158	0.0226	.	.	.	0.09310	N	1	P	0.49961	0.93	P	0.45506	0.483	T	0.21552	-1.0242	9	0.23891	T	0.37	-32.1277	4.8943	0.13742	0.0:0.6141:0.1942:0.1917	.	720	Q92618	ZN516_HUMAN	R	720	ENSP00000394757:G720R	ENSP00000394757:G720R	G	-	1	0	ZNF516	72220900	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.489000	0.22387	1.134000	0.42165	0.655000	0.94253	GGG		0.617	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		G	74091912	C	G	74091912	3	3	232	1	0	0	0	0	1	0	0	0	17960	594	21	3	1350	3	ZNF516	18	74091912	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	44975563	74091912	3985336	116	13219											
C19orf45	374877	genome.wustl.edu	37	19	7570999	7570999	+	Silent	SNP	G	G	A	rs148678708		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:7570999G>A	ENST00000361664.2	+	7	1296	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	385								p.Q371Q(1)		endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GACAGGTGCAGAAAGCGCCCA	0.642																																																1	Substitution - coding silent(1)	ovary(1)	19											62	58	59					19																	7570999		2203	4300	6503	7476999	SO:0001819	synonymous_variant	374877			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1155G>A	19.37:g.7570999G>A			7476999	Q8N115	Silent	SNP	ENST00000361664.2	37	CCDS12179.2																																																																																				0.642	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		A	7570999	G	A	7570999	2	1	232	1	0	0	0	0	0	0	0	1	1928	933	33	2		2	C19orf45	19	7570999	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09		7570999	51557984	117	13220											
C19orf45	374877	genome.wustl.edu	37	19	7571020	7571020	+	Silent	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:7571020G>A	ENST00000361664.2	+	7	1317	c.1176G>A	c.(1174-1176)ttG>ttA	p.L392L	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	392								p.L378L(1)		endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACCTCCACTTGCAGCAAAGCT	0.672																																																1	Substitution - coding silent(1)	ovary(1)	19											45	43	44					19																	7571020		2203	4300	6503	7477020	SO:0001819	synonymous_variant	374877			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1176G>A	19.37:g.7571020G>A			7477020	Q8N115	Silent	SNP	ENST00000361664.2	37	CCDS12179.2																																																																																				0.672	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		A	7571020	G	A	7571020	2	1	232	1	0	0	0	0	0	0	0	1	1928	1310	46	2		2	C19orf45	19	7571020	Silent	SNP	G	TCGA-24-1469-01A-01W-0553-09	21	7571020	51557963	118	13221											
TSHZ3	57616	genome.wustl.edu	37	19	31769386	31769386	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:31769386A>G	ENST00000240587.4	-	2	1640	c.1313T>C	c.(1312-1314)cTg>cCg	p.L438P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	438					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L255P(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCTCATCCAGCAGGGTTGT	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											110	107	108					19																	31769386		2203	4300	6503	36461226	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1313T>C	19.37:g.31769386A>G	ENSP00000240587:p.Leu438Pro		36461226	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294902	0.23564	.	.	ENSG00000121297	ENST00000240587	T	0.13089	2.62	5.55	5.55	0.83447	.	0.463445	0.22299	N	0.061898	T	0.10551	0.0258	N	0.14661	0.345	0.58432	D	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.09357	-1.0678	10	0.62326	D	0.03	-20.4064	15.7178	0.77681	1.0:0.0:0.0:0.0	.	438	Q63HK5	TSH3_HUMAN	P	438	ENSP00000240587:L438P	ENSP00000240587:L438P	L	-	2	0	TSHZ3	36461226	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.998000	0.57024	2.099000	0.63709	0.533000	0.62120	CTG		0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		G	31769386	A	G	31769386	3	3	232	1	0	0	0	0	1	0	0	0	16625	188	7	4	1936	4	TSHZ3	19	31769386	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	24198366	31769386	27359597	119	13222											
ZNF345	25850	genome.wustl.edu	37	19	37367988	37367988	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:37367988G>A	ENST00000529555.1	+	2	1044	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	ZNF345_ENST00000589046.1_Missense_Mutation_p.G86S|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.G86S			Q14585	ZN345_HUMAN	zinc finger protein 345	86					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G86S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCATACTGGTGAGAAACC	0.398																																																1	Substitution - Missense(1)	ovary(1)	19											91	96	94					19																	37367988		2203	4300	6503	42059828	SO:0001583	missense	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.256G>A	19.37:g.37367988G>A	ENSP00000431202:p.Gly86Ser		42059828		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227329	0.79576	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	T;T;T	0.25085	1.82;1.82;1.82	4.28	4.28	0.50868	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41673	0.1169	L	0.42008	1.315	0.35576	D	0.805843	D	0.76494	0.999	D	0.79784	0.993	T	0.45934	-0.9227	8	.	.	.	.	14.5703	0.68205	0.0:0.0:1.0:0.0	.	86	Q14585	ZN345_HUMAN	S	86	ENSP00000431216:G86S;ENSP00000431202:G86S;ENSP00000331120:G86S	.	G	+	1	0	ZNF345	42059828	0.001000	0.12720	1.000000	0.80357	0.999000	0.98932	0.863000	0.27913	2.350000	0.79820	0.655000	0.94253	GGT		0.398	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			A	37367988	G	A	37367988	3	1	232	1	0	0	0	0	1	0	0	0	17859	1348	47	2	258	2	ZNF345	19	37367988	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	5598602	37367988	21760995	120	13223											
FCGBP	8857	genome.wustl.edu	37	19	40433544	40433544	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:40433544A>G	ENST00000221347.6	-	2	732	c.725T>C	c.(724-726)cTg>cCg	p.L242P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	242	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.L242P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTGGGTAGCAGCTGCTCAAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											70	63	66					19																	40433544		2203	4300	6503	45125384	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.725T>C	19.37:g.40433544A>G	ENSP00000221347:p.Leu242Pro		45125384	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.809151	0.50421	.	.	ENSG00000090920	ENST00000221347	T	0.26067	1.76	4.21	4.21	0.49690	.	0.123149	0.33075	U	0.005312	T	0.45034	0.1322	L	0.54323	1.7	0.53688	D	0.999974	D	0.89917	1.0	D	0.87578	0.998	T	0.43814	-0.9368	10	0.87932	D	0	.	13.2177	0.59869	1.0:0.0:0.0:0.0	.	242	Q9Y6R7	FCGBP_HUMAN	P	242	ENSP00000221347:L242P	ENSP00000221347:L242P	L	-	2	0	FCGBP	45125384	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	8.070000	0.89493	2.127000	0.65507	0.533000	0.62120	CTG		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40433544	A	G	40433544	3	3	232	1	0	0	0	0	1	0	0	0	5778	188	7	4	15632	4	FCGBP	19	40433544	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	3065556	40433544	18695439	121	13224											
CYP2A6	1548	genome.wustl.edu	37	19	41356314	41356314	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:41356314C>T	ENST00000301141.5	-	1	38	c.18G>A	c.(16-18)atG>atA	p.M6I	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	6				Missing (in Ref. 1; CAA32097). {ECO:0000305}.	coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.M6I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCACCAGAAGCATCCCTGAGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											86	74	78					19																	41356314		2203	4298	6501	46048154	SO:0001583	missense	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.18G>A	19.37:g.41356314C>T	ENSP00000301141:p.Met6Ile		46048154	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	6.351	0.432806	0.12045	.	.	ENSG00000255974	ENST00000301141	T	0.67523	-0.27	3.05	1.97	0.26223	.	0.964830	0.08457	U	0.942989	T	0.44095	0.1277	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	10	0.20519	T	0.43	.	8.8127	0.34976	0.2269:0.7731:0.0:0.0	.	6	P11509	CP2A6_HUMAN	I	6	ENSP00000301141:M6I	ENSP00000301141:M6I	M	-	3	0	CYP2A6	46048154	0.000000	0.05858	0.121000	0.21740	0.012000	0.07955	-0.520000	0.06252	0.452000	0.26830	0.185000	0.17295	ATG		0.552	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		T	41356314	C	T	41356314	3	4	232	1	0	0	0	0	1	0	0	0	4162	710	25	2	1502	2	CYP2A6	19	41356314	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	922770	41356314	17772669	122	13225											
PSG3	5671	genome.wustl.edu	37	19	43237164	43237164	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:43237164C>T	ENST00000327495.5	-	3	665	c.481G>A	c.(481-483)Gac>Aac	p.D161N	PSG3_ENST00000595140.1_Missense_Mutation_p.D161N|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	161	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D161N(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCCTCCATGTCCTCCCTGGGG	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											204	200	201					19																	43237164		2203	4300	6503	47929004	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.481G>A	19.37:g.43237164C>T	ENSP00000332215:p.Asp161Asn		47929004	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.858444	0.00558	.	.	ENSG00000221826	ENST00000327495	T	0.12569	2.67	1.59	-3.18	0.05186	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03915	0.0110	N	0.05158	-0.105	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.13407	0.007;0.009	T	0.39981	-0.9587	9	0.02654	T	1	.	3.1133	0.06366	0.0:0.2745:0.3381:0.3874	.	139;161	Q08266;Q16557	.;PSG3_HUMAN	N	161	ENSP00000332215:D161N	ENSP00000332215:D161N	D	-	1	0	PSG3	47929004	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.478000	0.02329	-0.880000	0.03997	0.393000	0.25936	GAC		0.537	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43237164	C	T	43237164	3	4	232	1	0	0	0	0	1	0	0	0	12659	855	30	2	821	2	PSG3	19	43237164	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	1880850	43237164	15891819	123	13226											
ZNF45	7596	genome.wustl.edu	37	19	44423030	44423030	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:44423030T>C	ENST00000269973.5	-	9	1317	c.227A>G	c.(226-228)aAc>aGc	p.N76S	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.N76S	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N76S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAGGAGTTATCTCTCTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	19											124	97	106					19																	44423030		2203	4300	6503	49114870	SO:0001583	missense	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.227A>G	19.37:g.44423030T>C	ENSP00000269973:p.Asn76Ser		49114870	P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.411487	0.01145	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.06218	3.33	3.1	-0.645	0.11475	Krueppel-associated box (1);	.	.	.	.	T	0.01870	0.0059	N	0.02181	-0.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47459	-0.9116	9	0.06891	T	0.86	.	5.9034	0.18980	0.0:0.5096:0.0:0.4904	.	76	Q02386	ZNF45_HUMAN	S	76	ENSP00000269973:N76S	ENSP00000269973:N76S	N	-	2	0	ZNF45	49114870	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.535000	0.06142	-0.082000	0.12640	0.482000	0.46254	AAC		0.493	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		C	44423030	T	C	44423030	3	2	232	1	0	0	0	0	1	0	0	0	17921	1725	60	4	1829	4	ZNF45	19	44423030	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	1185866	44423030	14705953	124	13227											
C5AR1	728	genome.wustl.edu	37	19	47823120	47823120	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:47823120C>T	ENST00000355085.3	+	2	108	c.86C>T	c.(85-87)aCt>aTt	p.T29I		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	29					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.T29I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GTGGATAAAACTTCTAACACG	0.532																																																1	Substitution - Missense(1)	ovary(1)	19											161	138	146					19																	47823120		2203	4300	6503	52514960	SO:0001583	missense	728				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.86C>T	19.37:g.47823120C>T	ENSP00000347197:p.Thr29Ile		52514960		Missense_Mutation	SNP	ENST00000355085.3	37	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	C	1.348	-0.592248	0.03799	.	.	ENSG00000197405	ENST00000355085	T	0.36878	1.23	3.29	-2.24	0.06909	.	11.133400	0.01115	U	0.005666	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.14531	-1.0469	10	0.30854	T	0.27	.	6.1581	0.20348	0.5299:0.2958:0.1744:0.0	.	29	P21730	C5AR_HUMAN	I	29	ENSP00000347197:T29I	ENSP00000347197:T29I	T	+	2	0	C5AR1	52514960	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.034000	0.13776	-0.284000	0.09102	-0.534000	0.04291	ACT		0.532	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		T	47823120	C	T	47823120	3	4	232	1	0	0	0	0	1	0	0	0	2281	565	20	2	91	2	C5AR1	19	47823120	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	3400090	47823120	11305863	125	13228											
SIGLEC12	89858	genome.wustl.edu	37	19	52004722	52004722	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:52004722G>A	ENST00000291707.3	-	1	321	c.266C>T	c.(265-267)aCt>aTt	p.T89I	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	89	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.T89I(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCGGTCCCGAGTCTCCTCCTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											158	137	144					19																	52004722		2203	4300	6503	56696534	SO:0001583	missense	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.266C>T	19.37:g.52004722G>A	ENSP00000291707:p.Thr89Ile		56696534	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	14.50	2.554535	0.45487	.	.	ENSG00000254521	ENST00000291707	T	0.64618	-0.11	2.42	2.42	0.29668	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81009	0.4734	M	0.92649	3.33	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.67673	-0.5610	9	0.87932	D	0	.	8.0735	0.30704	0.0:0.0:1.0:0.0	.	89	Q96PQ1	SIG12_HUMAN	I	89	ENSP00000291707:T89I	ENSP00000291707:T89I	T	-	2	0	SIGLEC12	56696534	0.000000	0.05858	0.013000	0.15412	0.246000	0.25737	0.580000	0.23803	1.188000	0.43014	0.395000	0.25975	ACT		0.557	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		A	52004722	G	A	52004722	3	1	232	1	0	0	0	0	1	0	0	0	14311	1029	36	2	1626	2	SIGLEC12	19	52004722	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	4181602	52004722	7124261	126	13229											
KIR2DL3	3804	genome.wustl.edu	37	19	55250043	55250043	+	Splice_Site	SNP	T	T	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:55250043T>A	ENST00000342376.3	+	1	64	c.33T>A	c.(31-33)gtT>gtA	p.V11V	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Splice_Site_p.V11V	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	11					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V11V(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGGTGTGTGTTGGTGAGTCCT	0.602											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - coding silent(1)	ovary(1)	19											134	154	147					19																	55250043		2000	3961	5961	59941855	SO:0001630	splice_region_variant	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.34+1T>A	19.37:g.55250043T>A		1006	59941855	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	ENST00000342376.3	37	CCDS33107.1																																																																																				0.602	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1		Silent	A	55250043	T	A	55250043	5	1	232	1	0	0	0	0	0	0	1	0	8317	1826	63	5	35	5	KIR2DL3	19	55250043	Splice_Site	SNP	T	TCGA-24-1469-01A-01W-0553-09	3245321	55250043	3878940	127	13230											
KIR3DP1	3811	genome.wustl.edu	37	19	55301549	55301549	+	Intron	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:55301549C>G	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGACCTTGTCCTGCAGCTCC	0.562																																																0			19											18	33	28					19																	55301549		609	1500	2109	59993361	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-27440C>G	19.37:g.55301549C>G			59993361	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37																																																																																					0.562	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		G	55301549	C	G	55301549	1	3	232	0	1	0	0	0	0	0	0	0	8323	855	30	3		3	KIR3DP1	19	55301549	Intron	SNP	C	TCGA-24-1469-01A-01W-0553-09	51506	55301549	3827434	128	13231											
MZF1	7593	genome.wustl.edu	37	19	59082382	59082382	+	Silent	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr19:59082382C>T	ENST00000215057.2	-	2	935	c.375G>A	c.(373-375)gaG>gaA	p.E125E	MZF1_ENST00000599369.1_Silent_p.E125E|MZF1_ENST00000594108.1_Silent_p.E125E|MZF1_ENST00000594234.1_Silent_p.E125E|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	125	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E125E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GTCCGCCCGGCTCCCGGCGCA	0.697																																																1	Substitution - coding silent(1)	ovary(1)	19											17	20	19					19																	59082382		2156	4212	6368	63774194	SO:0001819	synonymous_variant	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.375G>A	19.37:g.59082382C>T			63774194	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	37	CCDS12988.1																																																																																				0.697	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		T	59082382	C	T	59082382	2	4	232	1	0	0	0	0	0	0	0	1	10108	796	28	2		2	MZF1	19	59082382	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09	3780833	59082382	46601	129	13232											
TGM3	7053	genome.wustl.edu	37	20	2320522	2320522	+	Missense_Mutation	SNP	G	G	A	rs374127604		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr20:2320522G>A	ENST00000381458.5	+	12	1886	c.1823G>A	c.(1822-1824)cGg>cAg	p.R608Q		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	608					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.R608Q(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCTCGTGTGCGGAAGCCTGTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	20						G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	92	75	81		1823	-4	0.1	20		81	0,8600		0,0,4300	no	missense	TGM3	NM_003245.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	608/694	2320522	2,13004	2203	4300	6503	2268522	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1823G>A	20.37:g.2320522G>A	ENSP00000370867:p.Arg608Gln		2268522	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522793	0.27211	4.54E-4	0.0	ENSG00000125780	ENST00000381458	T	0.68025	-0.3	5.26	-3.98	0.04082	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.405290	0.04301	N	0.347352	T	0.52125	0.1715	N	0.21448	0.665	0.09310	N	1	B	0.19200	0.034	B	0.04013	0.001	T	0.39941	-0.9589	10	0.35671	T	0.21	-8.4543	12.9458	0.58371	0.3938:0.0:0.6062:0.0	.	608	Q08188	TGM3_HUMAN	Q	608	ENSP00000370867:R608Q	ENSP00000370867:R608Q	R	+	2	0	TGM3	2268522	0.000000	0.05858	0.108000	0.21378	0.032000	0.12392	-0.218000	0.09240	-0.824000	0.04295	-0.258000	0.10820	CGG		0.637	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		A	2320522	G	A	2320522	3	1	232	1	0	0	0	0	1	0	0	0	15831	1116	39	1	1869	1	TGM3	20	2320522	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09		2320522	60704998	130	13233											
NXT1	29107	genome.wustl.edu	37	20	23334730	23334730	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	A	G	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr20:23334730G>A	ENST00000254998.2	+	2	439	c.52G>A	c.(52-54)Gag>Aag	p.E18K	RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000442440.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	18	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)		p.E18K(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGAGCTGCTGAGGAGTTTGT	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											96	91	93					20																	23334730		2203	4300	6503	23282730	SO:0001583	missense	29107			AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"NTX2-like export factor1", "NTF2-like export factor 1"			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.52G>A	20.37:g.23334730G>A	ENSP00000254998:p.Glu18Lys		23282730		Missense_Mutation	SNP	ENST00000254998.2	37	CCDS13150.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000807	0.93227	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.32	5.32	0.75619	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	L	0.49571	1.57	0.80722	D	1	P	0.35328	0.495	P	0.45195	0.473	T	0.55817	-0.8081	9	0.21014	T	0.42	.	14.716	0.69269	0.0:0.0:1.0:0.0	.	18	Q9UKK6	NXT1_HUMAN	K	18	.	ENSP00000254998:E18K	E	+	1	0	NXT1	23282730	1.000000	0.71417	0.972000	0.41901	0.958000	0.62258	8.768000	0.91737	2.941000	0.99782	0.655000	0.94253	GAG		0.547	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	NM_013248		A	23334730	G	A	23334730	3	1	232	1	0	0	0	0	1	0	0	0	10794	1291	45	2	54	2	NXT1	20	23334730	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	21014208	23334730	39690790	131	13234											
NINL	22981	genome.wustl.edu	37	20	25484690	25484690	+	Silent	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr20:25484690C>A	ENST00000278886.6	-	7	832	c.759G>T	c.(757-759)gtG>gtT	p.V253V	NINL_ENST00000422516.1_Silent_p.V253V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	253	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.V253V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTCAAGACTCACTTTGCCGT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	20											177	161	166					20																	25484690		2203	4300	6503	25432690	SO:0001819	synonymous_variant	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.759G>T	20.37:g.25484690C>A			25432690	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	CCDS33452.1																																																																																				0.507	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		A	25484690	C	A	25484690	2	1	232	1	0	0	0	0	0	0	0	1	10420	813	29	3		3	NINL	20	25484690	Silent	SNP	C	TCGA-24-1469-01A-01W-0553-09	2149960	25484690	37540830	132	13235											
RBM12	10137	genome.wustl.edu	37	20	34242062	34242062	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr20:34242062T>C	ENST00000374114.3	-	3	1446	c.1183A>G	c.(1183-1185)Atg>Gtg	p.M395V	CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.M395V|RBM12_ENST00000374104.3_Missense_Mutation_p.M395V	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	395						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M395V(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAAGGTCCCATATTTTGCTTA	0.488											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	ovary(1)	20											150	144	146					20																	34242062		2203	4300	6503	33705476	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1183A>G	20.37:g.34242062T>C	ENSP00000363228:p.Met395Val	846	33705476	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.764562	0.00651	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.13307	2.6;2.6;2.6	4.77	3.66	0.41972	.	0.558134	0.18494	N	0.139551	T	0.05044	0.0135	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	10	0.02654	T	1	0.3122	5.7515	0.18150	0.1493:0.0779:0.0:0.7728	.	395	Q9NTZ6	RBM12_HUMAN	V	395;395;395;194	ENSP00000363228:M395V;ENSP00000352668:M395V;ENSP00000363217:M395V	ENSP00000339879:M194V	M	-	1	0	RBM12	33705476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.677000	0.37576	0.849000	0.35215	0.449000	0.29647	ATG		0.488	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		C	34242062	T	C	34242062	3	2	232	1	0	0	0	0	1	0	0	0	13116	1406	49	4	1619	4	RBM12	20	34242062	Missense_Mutation	SNP	T	TCGA-24-1469-01A-01W-0553-09	8757372	34242062	28783458	133	13236											
CTNNBL1	56259	genome.wustl.edu	37	20	36470759	36470759	+	Silent	SNP	T	T	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr20:36470759T>C	ENST00000361383.6	+	13	1447	c.1330T>C	c.(1330-1332)Ttg>Ctg	p.L444L	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Silent_p.L417L|CTNNBL1_ENST00000373473.1_Silent_p.L257L|CTNNBL1_ENST00000373469.1_Silent_p.L192L	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	444					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)	p.L444L(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACTAATGGAGTTGCATTTTAA	0.448																																					Ovarian(184;582 2038 3273 4106 42608)											1	Substitution - coding silent(1)	ovary(1)	20											159	127	138					20																	36470759		2203	4300	6503	35904173	SO:0001819	synonymous_variant	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1330T>C	20.37:g.36470759T>C			35904173	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	ENST00000361383.6	37	CCDS13298.1																																																																																				0.448	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		C	36470759	T	C	36470759	2	2	232	1	0	0	0	0	0	0	0	1	4018	1722	60	4		4	CTNNBL1	20	36470759	Silent	SNP	T	TCGA-24-1469-01A-01W-0553-09	2228697	36470759	26554761	134	13237											
TOP1	7150	genome.wustl.edu	37	20	39706228	39706228	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr20:39706228G>T	ENST00000361337.2	+	5	536	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	96	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.A96S(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	TCAGGTTCGAGCCTCTGGGGA	0.438			T	NUP98	AML*																																		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	1	Substitution - Missense(1)	ovary(1)	20											124	123	123					20																	39706228		2203	4300	6503	39139642	SO:0001583	missense	7150				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.286G>T	20.37:g.39706228G>T	ENSP00000354522:p.Ala96Ser		39139642	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	6.503	0.460964	0.12342	.	.	ENSG00000198900	ENST00000361337	T	0.21361	2.01	4.9	3.86	0.44501	.	0.701138	0.14793	N	0.298125	T	0.08268	0.0206	N	0.03608	-0.345	0.32628	N	0.522427	B	0.21688	0.059	B	0.26416	0.069	T	0.12863	-1.0531	10	0.02654	T	1	-3.703	10.1455	0.42760	0.0:0.2635:0.7365:0.0	.	96	P11387	TOP1_HUMAN	S	96	ENSP00000354522:A96S	ENSP00000354522:A96S	A	+	1	0	TOP1	39139642	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.248000	0.43160	2.415000	0.81967	0.655000	0.94253	GCC		0.438	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			T	39706228	G	T	39706228	3	4	232	1	0	0	0	0	1	0	0	0	16363	971	34	3	304	3	TOP1	20	39706228	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	3235469	39706228	23319292	135	13238											
TPD52L2	7165	genome.wustl.edu	37	20	62507184	62507184	+	Silent	SNP	T	T	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr20:62507184T>A	ENST00000346249.4	+	4	406	c.330T>A	c.(328-330)tcT>tcA	p.S110S	TPD52L2_ENST00000358548.4_Intron|TPD52L2_ENST00000217121.5_Silent_p.S110S|TPD52L2_ENST00000352482.4_Silent_p.S110S|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000351424.4_Intron|TPD52L2_ENST00000369927.4_Intron	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	110					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S110S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TGAAAACTTCTGAGAAACTTG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	20											134	128	130					20																	62507184		2203	4300	6503	61977628	SO:0001819	synonymous_variant	7165			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.330T>A	20.37:g.62507184T>A			61977628	B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Silent	SNP	ENST00000346249.4	37	CCDS13540.1																																																																																				0.448	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			A	62507184	T	A	62507184	2	1	232	1	0	0	0	0	0	0	0	1	16399	1567	55	5		5	TPD52L2	20	62507184	Silent	SNP	T	TCGA-24-1469-01A-01W-0553-09	22800956	62507184	518336	136	13239											
DIP2A	23181	genome.wustl.edu	37	21	47924306	47924306	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr21:47924306G>A	ENST00000417564.2	+	6	709	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	DIP2A_ENST00000427143.2_Missense_Mutation_p.G166S|DIP2A_ENST00000457905.3_Missense_Mutation_p.G230S|DIP2A_ENST00000318711.7_Missense_Mutation_p.G231S|DIP2A_ENST00000400274.1_Missense_Mutation_p.G230S|DIP2A_ENST00000435722.3_Missense_Mutation_p.G230S|DIP2A_ENST00000466639.1_Intron			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	230					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.G231S(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGTCACCACGGGCCTCGTGGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	21											55	55	55					21																	47924306		1937	4150	6087	46748734	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.688G>A	21.37:g.47924306G>A	ENSP00000392066:p.Gly230Ser		46748734	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219686	0.39201	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000457905;ENST00000435722;ENST00000417564	T;T;T;T;T;T	0.21031	2.08;2.05;2.03;2.05;2.06;2.05	5.3	5.3	0.74995	.	0.158328	0.44285	D	0.000468	T	0.34832	0.0911	L	0.45137	1.4	0.80722	D	1	B;D;B;B;D	0.69078	0.017;0.965;0.017;0.071;0.997	B;D;B;B;D	0.70716	0.013;0.91;0.013;0.086;0.97	T	0.03662	-1.1015	10	0.06757	T	0.87	-25.3156	17.9833	0.89148	0.0:0.0:1.0:0.0	.	231;166;230;230;230	E9PER1;E7EMA5;Q14689;Q14689-4;Q14689-2	.;.;DIP2A_HUMAN;.;.	S	230;166;231;230;230;230	ENSP00000383133:G230S;ENSP00000400528:G166S;ENSP00000323633:G231S;ENSP00000393434:G230S;ENSP00000415089:G230S;ENSP00000392066:G230S	ENSP00000323633:G231S	G	+	1	0	DIP2A	46748734	1.000000	0.71417	0.648000	0.29521	0.660000	0.38997	6.449000	0.73473	2.462000	0.83206	0.655000	0.94253	GGC		0.507	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		A	47924306	G	A	47924306	3	1	232	1	0	0	0	0	1	0	0	0	4527	1232	43	2	710	2	DIP2A	21	47924306	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09		47924306	205589	137	13240											
DGCR14	8220	genome.wustl.edu	37	22	19127498	19127498	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr22:19127498C>A	ENST00000252137.6	-	4	483	c.440G>T	c.(439-441)aGc>aTc	p.S147I		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	147					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)		p.S147I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GACATCTAGGCTGGGCAGCGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	22											106	105	105					22																	19127498		2203	4300	6503	17507498	SO:0001583	missense	8220			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.440G>T	22.37:g.19127498C>A	ENSP00000252137:p.Ser147Ile		17507498	Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814779	0.50527	.	.	ENSG00000100056	ENST00000252137	T	0.55760	0.5	5.08	4.06	0.47325	.	0.393919	0.33272	N	0.005095	T	0.67050	0.2852	M	0.82323	2.585	0.41028	D	0.98513	D	0.60575	0.988	P	0.53988	0.739	T	0.74621	-0.3604	10	0.72032	D	0.01	-17.2531	13.476	0.61308	0.0:0.9236:0.0:0.0764	.	147	Q96DF8	DGC14_HUMAN	I	147	ENSP00000252137:S147I	ENSP00000252137:S147I	S	-	2	0	DGCR14	17507498	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	1.804000	0.38873	1.370000	0.46153	-0.150000	0.13652	AGC		0.607	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			A	19127498	C	A	19127498	3	1	232	1	0	0	0	0	1	0	0	0	4460	797	28	3	1018	3	DGCR14	22	19127498	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09		19127498	32177068	138	13241											
PIWIL3	440822	genome.wustl.edu	37	22	25158369	25158369	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr22:25158369G>C	ENST00000332271.5	-	2	514	c.98C>G	c.(97-99)gCt>gGt	p.A33G	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	33					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.A33G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCTCACTGTAGCTGATCCAGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	22											98	84	89					22																	25158369		2203	4300	6503	23488369	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.98C>G	22.37:g.25158369G>C	ENSP00000330031:p.Ala33Gly		23488369		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640341	0.29157	.	.	ENSG00000184571	ENST00000332271	T	0.04406	3.63	2.17	2.17	0.27698	.	.	.	.	.	T	0.04137	0.0115	L	0.50333	1.59	0.23831	N	0.99672	P;P	0.40731	0.728;0.728	B;B	0.36289	0.221;0.221	T	0.16041	-1.0416	9	0.06757	T	0.87	.	7.9009	0.29734	0.0:0.0:1.0:0.0	.	33;33	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	G	33	ENSP00000330031:A33G	ENSP00000330031:A33G	A	-	2	0	PIWIL3	23488369	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.999000	0.03697	1.548000	0.49413	0.462000	0.41574	GCT		0.542	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		C	25158369	G	C	25158369	3	2	232	1	0	0	0	0	1	0	0	0	11959	971	34	3	2630	3	PIWIL3	22	25158369	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	6030871	25158369	26146197	139	13242											
FBXO7	25793	genome.wustl.edu	37	22	32881059	32881059	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chr22:32881059C>T	ENST00000266087.7	+	4	977	c.650C>T	c.(649-651)aCc>aTc	p.T217I	FBXO7_ENST00000382058.3_Missense_Mutation_p.T138I|FBXO7_ENST00000397426.1_Missense_Mutation_p.T103I	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	217	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.T217I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCCAGGGCACCGAAGCCAAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	22											108	98	101					22																	32881059		2203	4300	6503	31211059	SO:0001583	missense	25793			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.650C>T	22.37:g.32881059C>T	ENSP00000266087:p.Thr217Ile		31211059	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444890	0.43429	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.47177	0.85;0.85;0.85	5.56	5.56	0.83823	.	0.397716	0.31636	N	0.007303	T	0.49898	0.1584	M	0.76838	2.35	0.34592	D	0.715642	B;B;P	0.34977	0.065;0.095;0.478	B;B;B	0.32762	0.055;0.094;0.152	T	0.63945	-0.6522	10	0.40728	T	0.16	-16.1797	15.0422	0.71799	0.0:0.9298:0.0:0.0702	.	138;217;103	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	I	217;138;103	ENSP00000266087:T217I;ENSP00000371490:T138I;ENSP00000380571:T103I	ENSP00000266087:T217I	T	+	2	0	FBXO7	31211059	0.992000	0.36948	0.849000	0.33467	0.584000	0.36387	3.200000	0.51051	2.777000	0.95525	0.655000	0.94253	ACC		0.453	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			T	32881059	C	T	32881059	3	4	232	1	0	0	0	0	1	0	0	0	5760	507	18	2	705	2	FBXO7	22	32881059	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	7722690	32881059	18423507	140	13243											
ASB11	140456	genome.wustl.edu	37	X	15306080	15306080	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chrX:15306080C>G	ENST00000480796.1	-	6	820	c.770G>C	c.(769-771)aGa>aCa	p.R257T	ASB11_ENST00000380470.3_Missense_Mutation_p.R240T|ASB11_ENST00000537676.1_Missense_Mutation_p.R236T|ASB11_ENST00000344384.4_Missense_Mutation_p.R236T			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	257					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R257T(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CTGAGCATTTCTACGCTTCAG	0.567																																																1	Substitution - Missense(1)	ovary(1)	X											134	106	116					X																	15306080		2203	4300	6503	15216001	SO:0001583	missense	140456			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.770G>C	X.37:g.15306080C>G	ENSP00000417914:p.Arg257Thr		15216001	E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100672	0.56183	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.44	2.15	0.27550	Ankyrin repeat-containing domain (4);	0.320743	0.29638	N	0.011586	T	0.53867	0.1823	L	0.55017	1.72	0.27758	N	0.943939	B;B;B	0.31459	0.101;0.117;0.324	B;B;B	0.38020	0.263;0.112;0.112	T	0.43621	-0.9380	10	0.25106	T	0.35	-6.9039	5.8791	0.18846	0.145:0.5907:0.0:0.2643	.	240;257;236	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	T	236;240;236;257	ENSP00000445465:R236T;ENSP00000369837:R240T;ENSP00000343408:R236T;ENSP00000417914:R257T	ENSP00000343408:R236T	R	-	2	0	ASB11	15216001	0.968000	0.33430	0.137000	0.22149	0.925000	0.55904	1.494000	0.35616	0.422000	0.26005	0.523000	0.50628	AGA		0.567	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			G	15306080	C	G	15306080	3	3	232	1	0	0	0	0	1	0	0	0	1015	913	32	3	209	3	ASB11	23	15306080	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09		15306080	139964480	141	13244											
OTC	5009	genome.wustl.edu	37	X	38211976	38211976	+	Missense_Mutation	SNP	A	A	T	rs72552297		TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chrX:38211976A>T	ENST00000039007.4	+	1	179	c.27A>T	c.(25-27)ttA>ttT	p.L9F	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	9					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.L9F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GGATCCTGTTAAACAATGCAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											155	127	136					X																	38211976		2202	4300	6502	38096920	SO:0001583	missense	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.27A>T	X.37:g.38211976A>T	ENSP00000039007:p.Leu9Phe		38096920	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	a	6.144	0.394849	0.11638	.	.	ENSG00000036473	ENST00000039007	D	0.99176	-5.52	5.77	1.97	0.26223	.	0.570391	0.17778	N	0.162330	D	0.93903	0.8049	N	0.08118	0	0.26399	N	0.976459	B	0.02656	0.0	B	0.01281	0.0	D	0.87494	0.2429	10	0.13470	T	0.59	-3.6709	5.8666	0.18779	0.1724:0.2911:0.5365:0.0	.	9	P00480	OTC_HUMAN	F	9	ENSP00000039007:L9F	ENSP00000039007:L9F	L	+	3	2	OTC	38096920	0.995000	0.38212	0.941000	0.38009	0.629000	0.37895	0.450000	0.21762	-0.033000	0.13736	-0.918000	0.02743	TTA		0.418	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			T	38211976	A	T	38211976	3	4	232	1	0	0	0	0	1	0	0	0	11301	359	13	5	29	5	OTC	23	38211976	Missense_Mutation	SNP	A	TCGA-24-1469-01A-01W-0553-09	22905896	38211976	117058584	142	13245											
HEPH	9843	genome.wustl.edu	37	X	65409634	65409634	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chrX:65409634C>T	ENST00000343002.2	+	5	1581	c.917C>T	c.(916-918)gCa>gTa	p.A306V	HEPH_ENST00000374727.3_Missense_Mutation_p.A309V|HEPH_ENST00000419594.1_Missense_Mutation_p.A309V|HEPH_ENST00000336279.5_Missense_Mutation_p.A39V|HEPH_ENST00000519389.1_Missense_Mutation_p.A360V|HEPH_ENST00000441993.2_Missense_Mutation_p.A309V			Q9BQS7	HEPH_HUMAN	hephaestin	306	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.A306V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTCCACACAGCATTTTTCCAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	X											157	117	130					X																	65409634		2203	4300	6503	65326359	SO:0001583	missense	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.917C>T	X.37:g.65409634C>T	ENSP00000343939:p.Ala306Val		65326359	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	C	10.08	1.251376	0.22880	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99709	-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48	4.9	4.04	0.47022	Cupredoxin (2);	0.117606	0.56097	N	0.000022	D	0.97182	0.9079	N	0.11131	0.1	0.40662	D	0.982139	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.15870	0.014;0.008;0.008	D	0.95765	0.8804	10	0.02654	T	1	.	11.0823	0.48068	0.0:0.906:0.0:0.094	.	360;309;306	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	V	360;309;39;309;309;306;306	ENSP00000430620:A360V;ENSP00000363859:A309V;ENSP00000337418:A39V;ENSP00000411687:A309V;ENSP00000413211:A309V;ENSP00000343939:A306V;ENSP00000398078:A306V	ENSP00000337418:A39V	A	+	2	0	HEPH	65326359	0.995000	0.38212	1.000000	0.80357	0.971000	0.66376	2.385000	0.44371	0.857000	0.35407	0.594000	0.82650	GCA		0.493	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65409634	C	T	65409634	3	4	232	1	0	0	0	0	1	0	0	0	7054	710	25	2	1101	2	HEPH	23	65409634	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	27197658	65409634	89860926	143	13246											
MAGEE1	57692	genome.wustl.edu	37	X	75650481	75650481	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chrX:75650481G>C	ENST00000361470.2	+	1	2436	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	720						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E720Q(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGCTGCTGCAGAGGTACCATC	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											63	49	54					X																	75650481		2203	4300	6503	75566885	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2158G>C	X.37:g.75650481G>C	ENSP00000354912:p.Glu720Gln		75566885	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	7.494	0.651172	0.14516	.	.	ENSG00000198934	ENST00000361470	T	0.03982	3.74	2.26	2.26	0.28386	.	.	.	.	.	T	0.03827	0.0108	L	0.36672	1.1	0.09310	N	1	P	0.51933	0.949	B	0.37047	0.24	T	0.43621	-0.9380	9	0.44086	T	0.13	.	7.2115	0.25937	0.0:0.0:1.0:0.0	.	720	Q9HCI5	MAGE1_HUMAN	Q	720	ENSP00000354912:E720Q	ENSP00000354912:E720Q	E	+	1	0	MAGEE1	75566885	0.985000	0.35326	0.099000	0.21106	0.700000	0.40528	1.865000	0.39479	1.393000	0.46605	0.544000	0.68410	GAG		0.512	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		C	75650481	G	C	75650481	3	2	232	1	0	0	0	0	1	0	0	0	9185	943	33	3	2160	3	MAGEE1	23	75650481	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	10240847	75650481	79620079	144	13247											
P2RY10	27334	genome.wustl.edu	37	X	78216714	78216714	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chrX:78216714C>A	ENST00000171757.2	+	4	977	c.697C>A	c.(697-699)Caa>Aaa	p.Q233K	P2RY10_ENST00000544091.1_Missense_Mutation_p.Q233K	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.Q233K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AATGGCTTTCCAAGGGATCAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											107	95	99					X																	78216714		2203	4300	6503	78103370	SO:0001583	missense	27334			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.697C>A	X.37:g.78216714C>A	ENSP00000171757:p.Gln233Lys		78103370	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640097	0.47153	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37584	1.19;1.19	4.61	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.441905	0.24343	N	0.039347	T	0.33673	0.0871	L	0.46157	1.445	0.32468	N	0.543153	P	0.38473	0.633	P	0.46208	0.507	T	0.23226	-1.0194	10	0.02654	T	1	.	11.3732	0.49713	0.0:0.8021:0.1978:0.0	.	233	O00398	P2Y10_HUMAN	K	233	ENSP00000443138:Q233K;ENSP00000171757:Q233K	ENSP00000171757:Q233K	Q	+	1	0	P2RY10	78103370	0.768000	0.28519	0.998000	0.56505	0.933000	0.57130	1.344000	0.33941	2.136000	0.66102	0.540000	0.68198	CAA		0.443	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			A	78216714	C	A	78216714	3	1	232	1	0	0	0	0	1	0	0	0	11347	595	21	3	699	3	P2RY10	23	78216714	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	2566233	78216714	77053846	145	13248											
PAK3	5063	genome.wustl.edu	37	X	110366477	110366477	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chrX:110366477G>T	ENST00000372010.1	+	5	588	c.146G>T	c.(145-147)cGc>cTc	p.R49L	PAK3_ENST00000446737.1_Missense_Mutation_p.R49L|PAK3_ENST00000425146.1_Missense_Mutation_p.R49L|PAK3_ENST00000372007.5_Missense_Mutation_p.R49L|PAK3_ENST00000262836.4_Missense_Mutation_p.R49L|PAK3_ENST00000360648.4_Missense_Mutation_p.R49L|PAK3_ENST00000417227.1_Missense_Mutation_p.R49L|PAK3_ENST00000519681.1_Missense_Mutation_p.R49L|PAK3_ENST00000518291.1_Missense_Mutation_p.R49L			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	49					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R49L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCCAGGCTTCGCTCTATCTTC	0.448										TSP Lung(19;0.15)																																						1	Substitution - Missense(1)	ovary(1)	X											86	84	85					X																	110366477		2203	4300	6503	110253133	SO:0001583	missense	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.146G>T	X.37:g.110366477G>T	ENSP00000361080:p.Arg49Leu		110253133	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702237	0.30232	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.58;-0.57;-0.6;-0.54;-0.54;-0.57;-0.58	5.39	5.39	0.77823	.	0.118708	0.64402	D	0.000018	T	0.61640	0.2363	L	0.38838	1.175	0.80722	D	1	B;B;B;B	0.25521	0.0;0.128;0.001;0.0	B;B;B;B	0.26202	0.006;0.067;0.003;0.004	T	0.58070	-0.7701	10	0.09843	T	0.71	.	18.4314	0.90627	0.0:0.0:1.0:0.0	.	49;49;49;49	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	L	49	ENSP00000410853:R49L;ENSP00000401982:R49L;ENSP00000361080:R49L;ENSP00000429113:R49L;ENSP00000361077:R49L;ENSP00000428921:R49L;ENSP00000353864:R49L;ENSP00000389172:R49L;ENSP00000262836:R49L	ENSP00000262836:R49L	R	+	2	0	PAK3	110253133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.143000	0.94623	2.380000	0.81148	0.600000	0.82982	CGC		0.448	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		T	110366477	G	T	110366477	3	4	232	1	0	0	0	0	1	0	0	0	11402	1087	38	3	148	3	PAK3	23	110366477	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	32149763	110366477	44904083	146	13249											
G6PD	2539	genome.wustl.edu	37	X	153762658	153762658	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chrX:153762658G>A	ENST00000393564.2	-	6	651	c.539C>T	c.(538-540)tCt>tTt	p.S180F	G6PD_ENST00000369620.2_Missense_Mutation_p.S180F|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000393562.2_Missense_Mutation_p.S210F	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	180					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.S180F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCGGTCAGAGCTCTGCAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											89	74	79					X																	153762658		2203	4300	6503	153415852	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.539C>T	X.37:g.153762658G>A	ENSP00000377194:p.Ser180Phe		153415852	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635713	0.67130	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	5.65	5.65	0.86999	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.85197	2.74	0.80722	D	1	P;D	0.59357	0.954;0.985	D;D	0.63877	0.919;0.915	D	0.99552	1.0966	10	0.66056	D	0.02	.	15.9286	0.79644	0.0:0.0:1.0:0.0	.	180;210	P11413;P11413-3	G6PD_HUMAN;.	F	210;180;180;180;181;181;180	ENSP00000377192:S210F;ENSP00000377194:S180F;ENSP00000358633:S180F;ENSP00000395599:S181F;ENSP00000400648:S181F;ENSP00000394690:S180F	ENSP00000291567:S180F	S	-	2	0	G6PD	153415852	1.000000	0.71417	0.921000	0.36526	0.171000	0.22731	9.474000	0.97718	2.361000	0.80049	0.513000	0.50165	TCT		0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		A	153762658	G	A	153762658	3	1	232	1	0	0	0	0	1	0	0	0	6146	942	33	2	1040	2	G6PD	23	153762658	Missense_Mutation	SNP	G	TCGA-24-1469-01A-01W-0553-09	43396181	153762658	1507902	147	13250											
MPP1	4354	genome.wustl.edu	37	X	154012325	154012325	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01A-01W-0553-09	TCGA-24-1469-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	990c4b9d-608d-4b85-959c-5cc12f4e10fc	9f402e49-9fea-4c93-8a21-c15909fa5d38	g.chrX:154012325C>G	ENST00000369534.3	-	8	990	c.843G>C	c.(841-843)aaG>aaC	p.K281N	MPP1_ENST00000413259.3_Missense_Mutation_p.K251N|MPP1_ENST00000393531.1_Missense_Mutation_p.K261N|MPP1_ENST00000462825.1_5'UTR	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	281	Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.K281N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGGTCTTCCTCTTGAATGCAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											131	84	100					X																	154012325		2203	4300	6503	153665519	SO:0001583	missense	4354				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.843G>C	X.37:g.154012325C>G	ENSP00000358547:p.Lys281Asn		153665519	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417142	0.42918	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000453245;ENST00000393529	T;T;T;T;T	0.32515	2.24;2.24;2.24;2.24;1.45	5.32	3.56	0.40772	Guanylate kinase/L-type calcium channel (1);	0.145710	0.64402	D	0.000011	T	0.30417	0.0764	L	0.61218	1.895	0.43342	D	0.995396	B;B;B;B	0.21753	0.035;0.022;0.018;0.06	B;B;B;B	0.26614	0.011;0.071;0.042;0.071	T	0.07443	-1.0772	10	0.54805	T	0.06	.	7.7908	0.29119	0.0:0.7325:0.0:0.2675	.	264;251;261;281	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	N	281;251;261;155;235	ENSP00000358547:K281N;ENSP00000400155:K251N;ENSP00000377165:K261N;ENSP00000410888:K155N;ENSP00000377163:K235N	ENSP00000358547:K281N	K	-	3	2	MPP1	153665519	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.538000	0.23160	0.471000	0.27319	0.529000	0.55759	AAG		0.473	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		G	154012325	C	G	154012325	3	3	232	1	0	0	0	0	1	0	0	0	9733	912	32	3	577	3	MPP1	23	154012325	Missense_Mutation	SNP	C	TCGA-24-1469-01A-01W-0553-09	249667	154012325	1258235	148	13251											
ACTL8	81569	genome.wustl.edu	37	1	18152772	18152772	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:18152772C>A	ENST00000375406.1	+	3	1075	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	287					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L287M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGAGATCTCCCTGCGCCCCCT	0.642											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											39	42	41					1																	18152772		2203	4300	6503	18025359	SO:0001583	missense	81569			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.859C>A	1.37:g.18152772C>A	ENSP00000364555:p.Leu287Met	723	18025359	Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	7.931	0.740665	0.15642	.	.	ENSG00000117148	ENST00000375406	D	0.95885	-3.84	4.94	-9.89	0.00464	.	2.687210	0.01539	N	0.019156	D	0.91222	0.7234	L	0.42245	1.32	0.09310	N	1	B	0.18968	0.032	B	0.19666	0.026	T	0.79342	-0.1843	10	0.87932	D	0	-4.2969	6.379	0.21523	0.4903:0.1754:0.2764:0.0579	.	287	Q9H568	ACTL8_HUMAN	M	287	ENSP00000364555:L287M	ENSP00000364555:L287M	L	+	1	2	ACTL8	18025359	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.144000	0.00286	-4.389000	0.00052	-1.045000	0.02358	CTG		0.642	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		A	18152772	C	A	18152772	3	1	233	1	0	0	0	0	1	0	0	0	202	680	24	3	865	3	ACTL8	1	18152772	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09		18152772	231097849	1	13252											
BAI2	576	genome.wustl.edu	37	1	32221992	32221992	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:32221992G>T	ENST00000373658.3	-	4	787	c.446C>A	c.(445-447)aCc>aAc	p.T149N	BAI2_ENST00000398542.1_Missense_Mutation_p.T137N|BAI2_ENST00000257070.4_Missense_Mutation_p.T149N|BAI2_ENST00000373655.2_Missense_Mutation_p.T149N|BAI2_ENST00000398547.1_Missense_Mutation_p.T137N|BAI2_ENST00000527361.1_Missense_Mutation_p.T149N|BAI2_ENST00000398556.3_Missense_Mutation_p.T152N|BAI2_ENST00000398538.1_Missense_Mutation_p.T137N|MIR4254_ENST00000581063.1_RNA	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	149					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T149N(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTGCAGGAAGGTAAAGGGGCC	0.692																																																1	Substitution - Missense(1)	ovary(1)	1											21	23	22					1																	32221992		2201	4299	6500	31994579	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.446C>A	1.37:g.32221992G>T	ENSP00000362762:p.Thr149Asn		31994579	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714252	0.48622	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.47869	1.51;1.71;0.88;0.88;1.88;0.83;0.83;0.9;1.49;1.35	5.08	5.08	0.68730	.	0.000000	0.42172	D	0.000760	T	0.48768	0.1518	L	0.43152	1.355	0.80722	D	1	P;P;P;B;P;P	0.49090	0.9;0.919;0.865;0.118;0.865;0.788	B;P;P;B;P;B	0.46076	0.291;0.503;0.503;0.033;0.503;0.306	T	0.53989	-0.8360	10	0.72032	D	0.01	.	17.6069	0.88040	0.0:0.0:1.0:0.0	.	137;149;137;137;149;149	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	N	152;137;149;149;137;149;149;137;142;183	ENSP00000381564:T152N;ENSP00000381555:T137N;ENSP00000362762:T149N;ENSP00000362759:T149N;ENSP00000381550:T137N;ENSP00000257070:T149N;ENSP00000435397:T149N;ENSP00000381548:T137N;ENSP00000410921:T142N;ENSP00000437219:T183N	ENSP00000257070:T149N	T	-	2	0	BAI2	31994579	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	9.266000	0.95659	2.536000	0.85505	0.462000	0.41574	ACC		0.692	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		T	32221992	G	T	32221992	3	4	233	1	0	0	0	0	1	0	0	0	1299	1261	44	3	4431	3	BAI2	1	32221992	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	14069220	32221992	217028629	2	13253											
MARCKSL1	65108	genome.wustl.edu	37	1	32800410	32800410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:32800410G>A	ENST00000329421.7	-	2	721	c.376C>T	c.(376-378)Cag>Tag	p.Q126*		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	126					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.Q126*(1)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCTGCTCCTGCTCTTCCTCT	0.612																																																1	Substitution - Nonsense(1)	ovary(1)	1											49	46	47					1																	32800410		2203	4300	6503	32572997	SO:0001587	stop_gained	65108			AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"MARCKS-like protein"	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.376C>T	1.37:g.32800410G>A	ENSP00000362638:p.Gln126*		32572997	D3DPQ0|Q5TEE6|Q6NXS5	Nonsense_Mutation	SNP	ENST00000329421.7	37	CCDS361.1	.	.	.	.	.	.	.	.	.	.	G	37	5.996753	0.97184	.	.	ENSG00000175130	ENST00000329421	.	.	.	4.77	2.69	0.31865	.	0.414382	0.21644	N	0.071281	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-3.3247	12.3088	0.54918	0.0:0.4802:0.5198:0.0	.	.	.	.	X	126	.	ENSP00000362638:Q126X	Q	-	1	0	MARCKSL1	32572997	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	2.033000	0.41136	1.314000	0.45095	0.561000	0.74099	CAG		0.612	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		A	32800410	G	A	32800410	4	1	233	1	0	0	0	0	0	1	0	0	9310	1328	46	2	215	2	MARCKSL1	1	32800410	Nonsense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	578418	32800410	216450211	3	13254											
ADC	113451	genome.wustl.edu	37	1	33560309	33560309	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:33560309G>C	ENST00000294517.6	+	8	1335	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q	ADC_ENST00000373440.1_Intron|ADC_ENST00000373443.3_Missense_Mutation_p.E250Q|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.E250Q|ADC_ENST00000373441.1_Missense_Mutation_p.E250Q|ADC_ENST00000358680.3_Intron	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		250					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.E250Q(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)	AGTGAGATTTGAAGAGGTAAC	0.587											OREG0013339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											65	67	67					1																	33560309		2203	4300	6503	33332896	SO:0001583	missense	113451																														ENST00000294517.6:c.748G>C	1.37:g.33560309G>C	ENSP00000294517:p.Glu250Gln	841	33332896	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	CCDS375.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288028	0.95517	.	.	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.33	5.33	0.75918	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.67625	2.065	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;P	0.83275	0.96;0.996;0.925;0.876	T	0.66630	-0.5875	10	0.72032	D	0.01	-5.4048	18.1576	0.89699	0.0:0.0:1.0:0.0	.	250;250;155;250	Q96A70-2;Q96A70-3;D3DPR0;Q96A70	.;.;.;ADC_HUMAN	Q	250;262;250;250;250	ENSP00000294517:E250Q;ENSP00000362542:E250Q;ENSP00000381233:E250Q;ENSP00000362540:E250Q	ENSP00000294517:E250Q	E	+	1	0	ADC	33332896	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	7.662000	0.83803	2.663000	0.90544	0.655000	0.94253	GAA		0.587	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			C	33560309	G	C	33560309	3	2	233	1	0	0	0	0	1	0	0	0	287	1291	45	3	766	3	ADC	1	33560309	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	759899	33560309	215690312	4	13255											
HIVEP3	59269	genome.wustl.edu	37	1	42047896	42047896	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:42047896A>G	ENST00000372583.1	-	4	3458	c.2573T>C	c.(2572-2574)aTc>aCc	p.I858T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.I858T|HIVEP3_ENST00000372584.1_Missense_Mutation_p.I858T|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.I858T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	858	Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I858T(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGTTACTAGGATCTCAGGAAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											71	81	78					1																	42047896		2203	4300	6503	41820483	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2573T>C	1.37:g.42047896A>G	ENSP00000361664:p.Ile858Thr		41820483	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098885	0.76870	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.95	4.95	0.65309	.	0.000000	0.53938	D	0.000051	T	0.68174	0.2972	M	0.76727	2.345	0.52501	D	0.999951	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.72868	-0.4162	10	0.87932	D	0	5.4401	14.4275	0.67225	1.0:0.0:0.0:0.0	.	858;858	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	858	ENSP00000361665:I858T;ENSP00000361664:I858T;ENSP00000247584:I858T;ENSP00000410828:I858T	ENSP00000247584:I858T	I	-	2	0	HIVEP3	41820483	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.139000	0.94554	2.071000	0.62044	0.379000	0.24179	ATC		0.627	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		G	42047896	A	G	42047896	3	3	233	1	0	0	0	0	1	0	0	0	7188	333	12	4	4671	4	HIVEP3	1	42047896	Missense_Mutation	SNP	A	TCGA-24-1470-01A-01W-0553-09	8487587	42047896	207202725	5	13256											
INTS3	65123	genome.wustl.edu	37	1	153742690	153742690	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:153742690G>C	ENST00000318967.2	+	24	2974	c.2406G>C	c.(2404-2406)tgG>tgC	p.W802C	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.W802C|INTS3_ENST00000512605.1_Missense_Mutation_p.W596C|INTS3_ENST00000456435.1_Missense_Mutation_p.W596C	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	803					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.W802C(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCTAGACTGGGAGACCTTTG	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											169	167	168					1																	153742690		2203	4300	6503	152009314	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2406G>C	1.37:g.153742690G>C	ENSP00000318641:p.Trp802Cys		152009314	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056752	0.76074	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.85130	0.997;0.977;0.99	T	0.75866	-0.3166	9	0.87932	D	0	.	16.4886	0.84191	0.0:0.0:1.0:0.0	.	596;803;802	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	C	802;596;802;596	.	ENSP00000318641:W802C	W	+	3	0	INTS3	152009314	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.526000	0.90588	2.757000	0.94681	0.655000	0.94253	TGG		0.517	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		C	153742690	G	C	153742690	3	2	233	1	0	0	0	0	1	0	0	0	7779	1241	43	3	2500	3	INTS3	1	153742690	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	111694794	153742690	95507931	6	13257											
NUP210L	91181	genome.wustl.edu	37	1	153995748	153995748	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:153995748A>T	ENST00000368559.3	-	31	4219	c.4148T>A	c.(4147-4149)gTg>gAg	p.V1383E	NUP210L_ENST00000271854.3_Missense_Mutation_p.V1383E|NUP210L_ENST00000368553.1_Missense_Mutation_p.V316E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1383					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.V1383E(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGGCTGCTCACTCGCAGGTA	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											99	101	100					1																	153995748		1982	4157	6139	152262372	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4148T>A	1.37:g.153995748A>T	ENSP00000357547:p.Val1383Glu		152262372	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422262	0.62622	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.26223	3.3;1.75;3.05	5.18	5.18	0.71444	.	0.496846	0.21714	N	0.070221	T	0.10035	0.0246	N	0.24115	0.695	0.43007	D	0.994533	B;B	0.20671	0.047;0.047	B;B	0.21708	0.036;0.036	T	0.05225	-1.0898	10	0.52906	T	0.07	-4.1535	13.4177	0.60979	1.0:0.0:0.0:0.0	.	1383;1383	E7EP56;Q5VU65	.;P210L_HUMAN	E	1383;316;1383	ENSP00000357547:V1383E;ENSP00000357541:V316E;ENSP00000271854:V1383E	ENSP00000271854:V1383E	V	-	2	0	NUP210L	152262372	0.998000	0.40836	0.936000	0.37596	0.991000	0.79684	6.798000	0.75155	2.180000	0.69256	0.455000	0.32223	GTG		0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	153995748	A	T	153995748	3	4	233	1	0	0	0	0	1	0	0	0	10761	159	6	5	1558	5	NUP210L	1	153995748	Missense_Mutation	SNP	A	TCGA-24-1470-01A-01W-0553-09	253058	153995748	95254873	7	13258											
FAM5C	339479	genome.wustl.edu	37	1	190203607	190203607	+	Splice_Site	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:190203607C>T	ENST00000367462.3	-	5	850	c.619G>A	c.(619-621)Gta>Ata	p.V207I	BRINP3_ENST00000534846.1_Splice_Site_p.V105I	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	207	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.V207I(1)									GTTTCTGTTACCTGGCAAACA	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											110	93	99					1																	190203607		2203	4300	6503	188470230	SO:0001630	splice_region_variant	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.619-1G>A	1.37:g.190203607C>T			188470230	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684419	0.68157	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.23950	2.14;1.88	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.58101	1.795	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.70935	0.971;0.935	T	0.14420	-1.0473	10	0.37606	T	0.19	.	17.6929	0.88273	0.0:1.0:0.0:0.0	.	105;207	B7Z260;Q76B58	.;FAM5C_HUMAN	I	207;105	ENSP00000356432:V207I;ENSP00000438022:V105I	ENSP00000356432:V207I	V	-	1	0	FAM5C	188470230	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.706000	0.84615	2.775000	0.95449	0.650000	0.86243	GTA		0.378	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	Missense_Mutation	T	190203607	C	T	190203607	5	4	233	1	0	0	0	0	0	0	1	0	5594	521	18	2	1697	2	FAM5C	1	190203607	Splice_Site	SNP	C	TCGA-24-1470-01A-01W-0553-09	36207859	190203607	59047014	8	13259											
SLC30A1	7779	genome.wustl.edu	37	1	211749372	211749372	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:211749372A>C	ENST00000367001.4	-	2	1011	c.882T>G	c.(880-882)ttT>ttG	p.F294L		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	294					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)	p.F294L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TTATTTCTACAAATGCTTTGC	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											117	123	121					1																	211749372		2203	4300	6503	209815995	SO:0001583	missense	7779			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.882T>G	1.37:g.211749372A>C	ENSP00000355968:p.Phe294Leu		209815995	Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	A	7.597	0.672016	0.14776	.	.	ENSG00000170385	ENST00000367001	T	0.62105	0.05	5.44	5.44	0.79542	.	0.411034	0.28996	N	0.013463	T	0.47691	0.1459	L	0.38175	1.15	0.28598	N	0.909323	B	0.02656	0.0	B	0.06405	0.002	T	0.34477	-0.9827	10	0.10902	T	0.67	-1.9283	10.4965	0.44780	0.819:0.0:0.0:0.181	.	294	Q9Y6M5	ZNT1_HUMAN	L	294	ENSP00000355968:F294L	ENSP00000355968:F294L	F	-	3	2	SLC30A1	209815995	0.092000	0.21681	0.998000	0.56505	0.987000	0.75469	0.623000	0.24447	2.061000	0.61500	0.460000	0.39030	TTT		0.373	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			C	211749372	A	C	211749372	3	2	233	1	0	0	0	0	1	0	0	0	14556	127	5	5	645	5	SLC30A1	1	211749372	Missense_Mutation	SNP	A	TCGA-24-1470-01A-01W-0553-09	21545765	211749372	37501249	9	13260											
ITPKB	3707	genome.wustl.edu	37	1	226923596	226923596	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:226923596G>A	ENST00000272117.3	-	1	1563	c.1564C>T	c.(1564-1566)Cgt>Tgt	p.R522C	ITPKB_ENST00000429204.1_Missense_Mutation_p.R522C|ITPKB_ENST00000366784.1_Missense_Mutation_p.R522C			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	522					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.R48C(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTGTGCCACGCGTCCAAGCC	0.627																																					Colon(84;110 1851 5306 33547)											1	Substitution - Missense(1)	ovary(1)	1											49	46	47					1																	226923596		2203	4300	6503	224990219	SO:0001583	missense	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1564C>T	1.37:g.226923596G>A	ENSP00000272117:p.Arg522Cys		224990219	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936415	0.34189	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.22945	1.93;1.93;1.95	5.43	-6.94	0.01633	.	0.995923	0.08142	N	0.991498	T	0.13030	0.0316	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	10	0.54805	T	0.06	1.0444	11.7323	0.51744	0.3033:0.1225:0.5743:0.0	.	522	P27987	IP3KB_HUMAN	C	522	ENSP00000272117:R522C;ENSP00000411152:R522C;ENSP00000355748:R522C	ENSP00000272117:R522C	R	-	1	0	ITPKB	224990219	0.003000	0.15002	0.002000	0.10522	0.313000	0.28021	-0.346000	0.07760	-1.442000	0.01955	-1.626000	0.00786	CGT		0.627	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		A	226923596	G	A	226923596	3	1	233	1	0	0	0	0	1	0	0	0	7918	1087	38	1	1304	1	ITPKB	1	226923596	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	15174224	226923596	22327025	10	13261											
NLRP3	114548	genome.wustl.edu	37	1	247582273	247582273	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr1:247582273C>G	ENST00000336119.3	+	1	923	c.177C>G	c.(175-177)atC>atG	p.I59M	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.I59M|NLRP3_ENST00000366497.2_Missense_Mutation_p.I59M|NLRP3_ENST00000391827.2_Missense_Mutation_p.I59M|NLRP3_ENST00000348069.2_Missense_Mutation_p.I59M|NLRP3_ENST00000391828.3_Missense_Mutation_p.I59M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	59	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.I59I(1)|p.I59M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGCTAATGATCGACTTCAATG	0.547																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	1											69	60	63					1																	247582273		2203	4300	6503	245648896	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.177C>G	1.37:g.247582273C>G	ENSP00000337383:p.Ile59Met		245648896	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770397	0.49680	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	4.49	-8.97	0.00758	Pyrin (2);DEATH-like (2);	0.124322	0.36740	N	0.002437	T	0.54382	0.1855	M	0.67397	2.05	0.23869	N	0.996614	D;D;D;D;D	0.76494	0.998;0.985;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.976;0.913;0.989;0.983;0.995	T	0.62699	-0.6799	10	0.30854	T	0.27	.	11.7747	0.51979	0.1183:0.6355:0.0:0.2462	.	59;59;59;59;59	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	59	ENSP00000375704:I59M;ENSP00000355453:I59M;ENSP00000337383:I59M;ENSP00000294752:I59M;ENSP00000355452:I59M;ENSP00000375703:I59M	ENSP00000337383:I59M	I	+	3	3	NLRP3	245648896	0.000000	0.05858	0.269000	0.24586	0.970000	0.65996	-3.326000	0.00511	-2.521000	0.00497	-0.415000	0.06103	ATC		0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		G	247582273	C	G	247582273	3	3	233	1	0	0	0	0	1	0	0	0	10478	874	31	3	179	3	NLRP3	1	247582273	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	20658677	247582273	1668348	11	13262											
RNASEH1	246243	genome.wustl.edu	37	2	3597983	3597983	+	Silent	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr2:3597983G>A	ENST00000315212.3	-	4	844	c.489C>T	c.(487-489)taC>taT	p.Y163Y	RP13-512J5.1_ENST00000438485.1_5'Flank	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	163	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.Y163Y(1)		endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CTGGCCCCCAGTAAACGCCGA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	2											113	126	122					2																	3597983		2203	4300	6503	3575858	SO:0001819	synonymous_variant	246243			AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"RNase H1"	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.489C>T	2.37:g.3597983G>A			3575858	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	ENST00000315212.3	37	CCDS1647.1																																																																																				0.498	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			A	3597983	G	A	3597983	2	1	233	1	0	0	0	0	0	0	0	1	13414	1024	36	2		2	RNASEH1	2	3597983	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09		3597983	239601390	12	13263											
KIF3C	3797	genome.wustl.edu	37	2	26204159	26204159	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr2:26204159T>G	ENST00000264712.3	-	1	1207	c.628A>C	c.(628-630)Aat>Cat	p.N210H	KIF3C_ENST00000405914.1_Missense_Mutation_p.N210H	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	210	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.N210H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCTCATTCATGTGGGTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											76	78	77					2																	26204159		2203	4300	6503	26057663	SO:0001583	missense	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.628A>C	2.37:g.26204159T>G	ENSP00000264712:p.Asn210His		26057663	O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368574	0.61624	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	D;D	0.82433	-1.61;-1.61	5.67	5.67	0.87782	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.93530	0.7935	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95125	0.8250	10	0.87932	D	0	.	13.8585	0.63545	0.0:0.0:0.0:1.0	.	210;210	B7ZM25;O14782	.;KIF3C_HUMAN	H	210;16;210	ENSP00000264712:N210H;ENSP00000385030:N210H	ENSP00000264712:N210H	N	-	1	0	KIF3C	26057663	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	8.004000	0.88535	2.152000	0.67230	0.533000	0.62120	AAT		0.567	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			G	26204159	T	G	26204159	3	3	233	1	0	0	0	0	1	0	0	0	8302	1783	62	5	1785	5	KIF3C	2	26204159	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09	22606176	26204159	216995214	13	13264											
C2orf63	130162	genome.wustl.edu	37	2	55435838	55435838	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr2:55435838C>G	ENST00000401408.1	-	8	1168	c.823G>C	c.(823-825)Ggc>Cgc	p.G275R	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.G275R|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.G153R	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	275								p.G275R(2)									TCAACAATGCCTTGGTCACCT	0.318																																																2	Substitution - Missense(2)	ovary(2)	2											126	124	125					2																	55435838		2203	4300	6503	55289342	SO:0001583	missense	130162				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.823G>C	2.37:g.55435838C>G	ENSP00000384869:p.Gly275Arg		55289342	B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297274	0.23650	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.16743	2.32;2.32;2.32	5.51	-0.919	0.10478	.	1.527330	0.03789	N	0.262597	T	0.15176	0.0366	L	0.51422	1.61	0.09310	N	1	B	0.24823	0.112	B	0.21360	0.034	T	0.27606	-1.0069	10	0.18710	T	0.47	3.1728	5.8576	0.18728	0.1304:0.3714:0.0:0.4981	.	275	Q8NHS4	CB063_HUMAN	R	275;275;153	ENSP00000385778:G275R;ENSP00000384869:G275R;ENSP00000385512:G153R	ENSP00000384869:G275R	G	-	1	0	C2orf63	55289342	0.000000	0.05858	0.001000	0.08648	0.755000	0.42902	-0.392000	0.07314	-0.092000	0.12417	0.563000	0.77884	GGC		0.318	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		G	55435838	C	G	55435838	3	3	233	1	0	0	0	0	1	0	0	0	2182	681	24	3	961	3	C2orf63	2	55435838	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	29231679	55435838	187763535	14	13265											
C2orf78	388960	genome.wustl.edu	37	2	74043138	74043138	+	Silent	SNP	A	A	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr2:74043138A>G	ENST00000409561.1	+	3	1909	c.1788A>G	c.(1786-1788)gtA>gtG	p.V596V		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	596	Lys-rich.							p.V566V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAGTCAAGGTAGAAGAGAAGC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	2											82	79	80					2																	74043138		1869	4115	5984	73896646	SO:0001819	synonymous_variant	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1788A>G	2.37:g.74043138A>G			73896646		Silent	SNP	ENST00000409561.1	37	CCDS46338.1																																																																																				0.443	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		G	74043138	A	G	74043138	2	3	233	1	0	0	0	0	0	0	0	1	2195	407	15	4		4	C2orf78	2	74043138	Silent	SNP	A	TCGA-24-1470-01A-01W-0553-09	18607300	74043138	169156235	15	13266											
SMYD1	150572	genome.wustl.edu	37	2	88383883	88383883	+	Silent	SNP	C	C	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr2:88383883C>G	ENST00000419482.2	+	2	271	c.186C>G	c.(184-186)ctC>ctG	p.L62L	SMYD1_ENST00000444564.2_Silent_p.L62L|MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000438570.1_Silent_p.L62L|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	62	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.L62L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGAGAAGCTCCATCGCTGTG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	2											107	91	97					2																	88383883		2203	4300	6503	88164998	SO:0001819	synonymous_variant	150572			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.186C>G	2.37:g.88383883C>G			88164998	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																				0.512	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		G	88383883	C	G	88383883	2	3	233	1	0	0	0	0	0	0	0	1	14824	842	30	3		3	SMYD1	2	88383883	Silent	SNP	C	TCGA-24-1470-01A-01W-0553-09	14340745	88383883	154815490	16	13267											
TMEM131	23505	genome.wustl.edu	37	2	98392471	98392471	+	Silent	SNP	T	T	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr2:98392471T>C	ENST00000186436.5	-	32	4383	c.4155A>G	c.(4153-4155)aaA>aaG	p.K1385K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1385	Lys-rich.					integral component of membrane (GO:0016021)		p.K1272K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCTGAAGAGGTTTTCCTTTCC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	2											155	150	151					2																	98392471		1879	4104	5983	97758903	SO:0001819	synonymous_variant	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4155A>G	2.37:g.98392471T>C			97758903		Silent	SNP	ENST00000186436.5	37	CCDS46368.1																																																																																				0.433	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		C	98392471	T	C	98392471	2	2	233	1	0	0	0	0	0	0	0	1	16044	1722	60	4		4	TMEM131	2	98392471	Silent	SNP	T	TCGA-24-1470-01A-01W-0553-09	10008588	98392471	144806902	17	13268											
SH3RF3	344558	genome.wustl.edu	37	2	109964171	109964171	+	Silent	SNP	C	C	T	rs377230878	byFrequency	TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr2:109964171C>T	ENST00000309415.6	+	2	615	c.615C>T	c.(613-615)taC>taT	p.Y205Y		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	205	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)	p.Y205Y(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCTACAGCTACGAGGGGAAGG	0.597													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		16363	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2						C		7,4241		0,7,2117	52	54	53		615	-9.2	0	2		53	0,8452		0,0,4226	no	coding-synonymous	SH3RF3	NM_001099289.1		0,7,6343	TT,TC,CC		0.0,0.1648,0.0551		205/883	109964171	7,12693	2124	4226	6350	109330603	SO:0001819	synonymous_variant	344558			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.615C>T	2.37:g.109964171C>T			109330603	A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37																																																																																					0.597	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		T	109964171	C	T	109964171	2	4	233	1	0	0	0	0	0	0	0	1	14263	547	19	1		1	SH3RF3	2	109964171	Silent	SNP	C	TCGA-24-1470-01A-01W-0553-09	11571700	109964171	133235202	18	13269											
FAM171B	165215	genome.wustl.edu	37	2	187627428	187627428	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr2:187627428G>A	ENST00000304698.5	+	8	2562	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	787						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.E787K(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGCACTGTTGAAGATTTTGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											59	57	58					2																	187627428		2203	4300	6503	187335673	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2359G>A	2.37:g.187627428G>A	ENSP00000304108:p.Glu787Lys		187335673	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539053	0.27475	.	.	ENSG00000144369	ENST00000304698	T	0.30714	1.52	6.02	5.14	0.70334	.	0.317042	0.33834	N	0.004520	T	0.24812	0.0602	L	0.43923	1.385	0.40296	D	0.978551	B;B	0.16166	0.016;0.016	B;B	0.18871	0.023;0.012	T	0.05084	-1.0907	10	0.07325	T	0.83	-12.3263	14.7197	0.69297	0.0687:0.0:0.9313:0.0	.	787;788	Q6P995;A8K122	F171B_HUMAN;.	K	787	ENSP00000304108:E787K	ENSP00000304108:E787K	E	+	1	0	FAM171B	187335673	1.000000	0.71417	0.974000	0.42286	0.970000	0.65996	4.053000	0.57427	2.850000	0.98022	0.650000	0.86243	GAA		0.498	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187627428	G	A	187627428	3	1	233	1	0	0	0	0	1	0	0	0	5491	1291	45	2	2389	2	FAM171B	2	187627428	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	77663257	187627428	55571945	19	13270											
INPP1	3628	genome.wustl.edu	37	2	191233921	191233921	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr2:191233921G>T	ENST00000322522.4	+	5	1015	c.559G>T	c.(559-561)Ggt>Tgt	p.G187C	INPP1_ENST00000541441.1_Missense_Mutation_p.G187C|INPP1_ENST00000392329.2_Missense_Mutation_p.G187C	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	187					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)	p.G187C(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			CATTTTAATTGGTGTCTATGA	0.403																																					Melanoma(130;184 1743 2185 19805 38428)											1	Substitution - Missense(1)	ovary(1)	2											120	119	119					2																	191233921		2203	4300	6503	190942166	SO:0001583	missense	3628				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.559G>T	2.37:g.191233921G>T	ENSP00000325423:p.Gly187Cys		190942166		Missense_Mutation	SNP	ENST00000322522.4	37	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679846	0.88542	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441;ENST00000431594;ENST00000444194;ENST00000423767	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.55768	-0.8089	10	0.45353	T	0.12	-20.8504	17.5378	0.87837	0.0:0.0:1.0:0.0	.	187	P49441	INPP_HUMAN	C	187	ENSP00000376142:G187C;ENSP00000325423:G187C;ENSP00000440650:G187C;ENSP00000409786:G187C;ENSP00000404732:G187C;ENSP00000395424:G187C	ENSP00000325423:G187C	G	+	1	0	INPP1	190942166	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.353000	0.73032	2.747000	0.94245	0.644000	0.83932	GGT		0.403	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2			T	191233921	G	T	191233921	3	4	233	1	0	0	0	0	1	0	0	0	7751	1348	47	3	573	3	INPP1	2	191233921	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	3606493	191233921	51965452	20	13271											
TRANK1	9881	genome.wustl.edu	37	3	36897212	36897212	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr3:36897212A>G	ENST00000429976.2	-	12	4116	c.3869T>C	c.(3868-3870)aTg>aCg	p.M1290T	TRANK1_ENST00000428977.2_Missense_Mutation_p.M740T|TRANK1_ENST00000301807.6_Missense_Mutation_p.M740T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1290							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.M740T(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCTTTGGTCATTTTGGGCCA	0.468																																																2	Substitution - Missense(2)	ovary(2)	3											205	201	203					3																	36897212		1941	4151	6092	36872216	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3869T>C	3.37:g.36897212A>G	ENSP00000416168:p.Met1290Thr		36872216	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906765	0.33628	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.31769	1.48;1.89;1.48	5.46	5.46	0.80206	.	0.073999	0.56097	D	0.000022	T	0.30103	0.0754	L	0.44542	1.39	0.49051	D	0.999746	P	0.39717	0.684	B	0.37780	0.258	T	0.09796	-1.0658	10	0.66056	D	0.02	.	15.8445	0.78876	1.0:0.0:0.0:0.0	.	1290	O15050	TRNK1_HUMAN	T	740;1290;740	ENSP00000416826:M740T;ENSP00000416168:M1290T;ENSP00000301807:M740T	ENSP00000301807:M740T	M	-	2	0	TRANK1	36872216	1.000000	0.71417	0.990000	0.47175	0.702000	0.40608	7.176000	0.77643	2.208000	0.71279	0.459000	0.35465	ATG		0.468	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		G	36897212	A	G	36897212	3	3	233	1	0	0	0	0	1	0	0	0	16454	217	8	4	4956	4	TRANK1	3	36897212	Missense_Mutation	SNP	A	TCGA-24-1470-01A-01W-0553-09		36897212	161125218	21	13272											
NBEAL2	23218	genome.wustl.edu	37	3	47050489	47050489	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr3:47050489G>A	ENST00000450053.3	+	53	8217	c.8038G>A	c.(8038-8040)Gcc>Acc	p.A2680T	NBEAL2_ENST00000383740.2_Missense_Mutation_p.A929T|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2496T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2680					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.A2057T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACTGCTCCCGGCCGCGCCTCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	3											26	29	28					3																	47050489		1962	4123	6085	47025493	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.8038G>A	3.37:g.47050489G>A	ENSP00000415034:p.Ala2680Thr		47025493	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.092305|5.092305	0.94149|0.94149	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000443829	T;T;T|.	0.16457|.	2.34;2.34;2.34|.	4.85|4.85	4.85|4.85	0.62838|0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.379178|.	0.28754|.	N|.	0.014250|.	T|T	0.52008|0.52008	0.1708|0.1708	L|L	0.46157|0.46157	1.445|1.445	0.27869|0.27869	N|N	0.940107|0.940107	D;P|.	0.56521|.	0.976;0.885|.	P;P|.	0.51615|.	0.675;0.621|.	T|T	0.46843|0.46843	-0.9162|-0.9162	10|5	0.29301|.	T|.	0.29|.	.|.	15.4919|15.4919	0.75611|0.75611	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2496;2680|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	T|D	2496;929;2680;623|1018	ENSP00000292309:A2496T;ENSP00000373246:A929T;ENSP00000415034:A2680T|.	ENSP00000292309:A2496T|.	A|G	+|+	1|2	0|0	NBEAL2|NBEAL2	47025493|47025493	0.012000|0.012000	0.17670|0.17670	0.259000|0.259000	0.24435|0.24435	0.855000|0.855000	0.48748|0.48748	1.566000|1.566000	0.36396|0.36396	2.510000|2.510000	0.84645|0.84645	0.462000|0.462000	0.41574|0.41574	GCC|GGC		0.617	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47050489	G	A	47050489	3	1	233	1	0	0	0	0	1	0	0	0	10189	1203	42	2	8248	2	NBEAL2	3	47050489	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	10153277	47050489	150971941	22	13273											
GPR128	84873	genome.wustl.edu	37	3	100368630	100368630	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr3:100368630T>A	ENST00000273352.3	+	11	1626	c.1358T>A	c.(1357-1359)gTt>gAt	p.V453D	GPR128_ENST00000475887.1_Missense_Mutation_p.V158D	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	453					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V453D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCTCTCACAGTTATATTTCAG	0.368																																					Pancreas(87;185 1975 7223 18722)											1	Substitution - Missense(1)	ovary(1)	3											121	116	117					3																	100368630		2203	4300	6503	101851320	SO:0001583	missense	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1358T>A	3.37:g.100368630T>A	ENSP00000273352:p.Val453Asp		101851320	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631999	0.46944	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.51071	0.72;0.72	5.64	4.47	0.54385	GPCR, family 2-like (1);	0.085531	0.49916	D	0.000124	T	0.44850	0.1313	L	0.45352	1.415	0.09310	N	0.999999	P;B	0.51933	0.949;0.355	P;B	0.46419	0.516;0.338	T	0.39396	-0.9616	10	0.87932	D	0	.	10.5657	0.45171	0.0:0.0:0.162:0.838	.	158;453	E9PHI0;Q96K78	.;GP128_HUMAN	D	453;158	ENSP00000273352:V453D;ENSP00000419788:V158D	ENSP00000273352:V453D	V	+	2	0	GPR128	101851320	0.935000	0.31712	0.008000	0.14137	0.704000	0.40688	3.283000	0.51701	0.946000	0.37632	0.533000	0.62120	GTT		0.368	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			A	100368630	T	A	100368630	3	1	233	1	0	0	0	0	1	0	0	0	6641	1725	60	5	1400	5	GPR128	3	100368630	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09	53318141	100368630	97653800	23	13274											
HEG1	57493	genome.wustl.edu	37	3	124732833	124732833	+	Splice_Site	SNP	G	G	T	rs202024429		TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr3:124732833G>T	ENST00000311127.4	-	6	1657	c.1590C>A	c.(1588-1590)atC>atA	p.I530I	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	530	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.I530I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAATCCCAGCGACTGTAAACG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	3											64	58	60					3																	124732833		1899	4124	6023	126215523	SO:0001630	splice_region_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1589-1C>A	3.37:g.124732833G>T			126215523	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																				0.423	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	Silent	T	124732833	G	T	124732833	5	4	233	1	0	0	0	0	0	0	1	0	7044	1072	37	3	2603	3	HEG1	3	124732833	Splice_Site	SNP	G	TCGA-24-1470-01A-01W-0553-09	24364203	124732833	73289597	24	13275											
BCHE	590	genome.wustl.edu	37	3	165547408	165547408	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr3:165547408A>G	ENST00000264381.3	-	2	1580	c.1414T>C	c.(1414-1416)Ttt>Ctt	p.F472L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	472					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.F472L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CCAAAGACAAATTCAATTTCA	0.388																																																1	Substitution - Missense(1)	ovary(1)	3											88	92	90					3																	165547408		2203	4300	6503	167030102	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1414T>C	3.37:g.165547408A>G	ENSP00000264381:p.Phe472Leu		167030102	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325983	0.81580	.	.	ENSG00000114200	ENST00000264381	T	0.66995	-0.24	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	M	0.73217	2.22	0.80722	D	1	D	0.55172	0.97	P	0.58780	0.845	T	0.81070	-0.1099	10	0.87932	D	0	.	14.8209	0.70070	1.0:0.0:0.0:0.0	.	472	P06276	CHLE_HUMAN	L	472	ENSP00000264381:F472L	ENSP00000264381:F472L	F	-	1	0	BCHE	167030102	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.832000	0.92079	2.105000	0.64084	0.482000	0.46254	TTT		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			G	165547408	A	G	165547408	3	3	233	1	0	0	0	0	1	0	0	0	1358	101	4	4	406	4	BCHE	3	165547408	Missense_Mutation	SNP	A	TCGA-24-1470-01A-01W-0553-09	40814575	165547408	32475022	25	13276											
CRMP1	1400	genome.wustl.edu	37	4	5843063	5843063	+	Silent	SNP	G	G	A	rs138373028		TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr4:5843063G>A	ENST00000397890.2	-	8	997	c.783C>T	c.(781-783)gcC>gcT	p.A261A	CRMP1_ENST00000512574.1_Silent_p.A259A|CRMP1_ENST00000324989.7_Silent_p.A375A|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	261					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.A375A(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CGATGATGTCGGCTGCACTCT	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		16169	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	4						G	,	2,4404	4.2+/-10.8	0,2,2201	180	174	176		1125,783	-8.9	0	4	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CRMP1	NM_001014809.1,NM_001313.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	375/687,261/573	5843063	2,13004	2203	4300	6503	5893964	SO:0001819	synonymous_variant	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.783C>T	4.37:g.5843063G>A			5893964	A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000397890.2	37	CCDS43207.1																																																																																				0.622	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		A	5843063	G	A	5843063	2	1	233	1	0	0	0	0	0	0	0	1	3890	1103	39	1		1	CRMP1	4	5843063	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09		5843063	185311213	26	13277											
SETD7	80854	genome.wustl.edu	37	4	140432890	140432890	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr4:140432890C>A	ENST00000274031.3	-	8	1664	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	343					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)	p.G343V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCCACTCTTCCCGGGGGGGCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	4											61	64	63					4																	140432890		2203	4300	6503	140652340	SO:0001583	missense	80854			AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"Chromatin-modifying enzymes / K-methyltransferases"	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.1028G>T	4.37:g.140432890C>A	ENSP00000274031:p.Gly343Val		140652340	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190459	0.78789	.	.	ENSG00000145391	ENST00000274031	D	0.85556	-2.0	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.53593	0.73	D	0.86264	0.1657	10	0.87932	D	0	-24.5564	14.2292	0.65879	0.0:0.9292:0.0:0.0708	.	343	Q8WTS6	SETD7_HUMAN	V	343	ENSP00000274031:G343V	ENSP00000274031:G343V	G	-	2	0	SETD7	140652340	1.000000	0.71417	0.783000	0.31826	0.985000	0.73830	5.884000	0.69729	2.758000	0.94735	0.561000	0.74099	GGG		0.612	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		A	140432890	C	A	140432890	3	1	233	1	0	0	0	0	1	0	0	0	14139	623	22	3	76	3	SETD7	4	140432890	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	134589827	140432890	50721386	27	13278											
FAT1	2195	genome.wustl.edu	37	4	187630466	187630466	+	Silent	SNP	G	G	A	rs548372738		TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr4:187630466G>A	ENST00000441802.2	-	2	725	c.516C>T	c.(514-516)agC>agT	p.S172S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	172	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S172S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCCGTGGCGCTGACTCTTG	0.438										HNSCC(5;0.00058)			G|||	1	0.000199681	0	0	5008	,	,		21298	0		0.001	False		,,,				2504	0				Colon(197;1040 2055 4143 4984 49344)											1	Substitution - coding silent(1)	ovary(1)	4											175	182	180					4																	187630466		2177	4279	6456	187867460	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.516C>T	4.37:g.187630466G>A			187867460		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187630466	G	A	187630466	2	1	233	1	0	0	0	0	0	0	0	1	5689	1078	38	1		1	FAT1	4	187630466	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09	47197576	187630466	3523810	28	13279											
DNAH5	1767	genome.wustl.edu	37	5	13807741	13807741	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr5:13807741T>C	ENST00000265104.4	-	47	7950	c.7846A>G	c.(7846-7848)Agt>Ggt	p.S2616G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2616	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S2616G(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAATTCAGACTCTTGATCATG	0.383									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											146	136	139					5																	13807741		2203	4300	6503	13860741	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7846A>G	5.37:g.13807741T>C	ENSP00000265104:p.Ser2616Gly		13860741	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.182625	0.57800	.	.	ENSG00000039139	ENST00000265104	T	0.36157	1.27	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);	0.172931	0.64402	D	0.000008	T	0.46521	0.1397	M	0.87900	2.915	0.42919	D	0.994282	B	0.10296	0.003	B	0.23852	0.049	T	0.50398	-0.8833	10	0.59425	D	0.04	.	11.3785	0.49743	0.1351:0.0:0.0:0.8649	.	2616	Q8TE73	DYH5_HUMAN	G	2616	ENSP00000265104:S2616G	ENSP00000265104:S2616G	S	-	1	0	DNAH5	13860741	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.238000	0.51352	2.236000	0.73375	0.528000	0.53228	AGT		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13807741	T	C	13807741	3	2	233	1	0	0	0	0	1	0	0	0	4604	1551	54	4	6160	4	DNAH5	5	13807741	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09		13807741	167107519	29	13280											
CDH10	1008	genome.wustl.edu	37	5	24511468	24511468	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr5:24511468C>A	ENST00000264463.4	-	6	1477	c.970G>T	c.(970-972)Gac>Tac	p.D324Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	324	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D324Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCTGTGTGTCCTTCTCAGTC	0.413										HNSCC(23;0.051)																																						1	Substitution - Missense(1)	ovary(1)	5											274	217	236					5																	24511468		2203	4300	6503	24547225	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.970G>T	5.37:g.24511468C>A	ENSP00000264463:p.Asp324Tyr		24547225	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881320	0.51801	.	.	ENSG00000040731	ENST00000264463	T	0.48522	0.81	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.365437	0.31188	N	0.008089	T	0.61874	0.2382	H	0.95780	3.72	0.45205	D	0.998213	B	0.20164	0.042	B	0.25987	0.065	T	0.67803	-0.5576	10	0.66056	D	0.02	.	11.2628	0.49093	0.0:0.9164:0.0:0.0836	.	324	Q9Y6N8	CAD10_HUMAN	Y	324	ENSP00000264463:D324Y	ENSP00000264463:D324Y	D	-	1	0	CDH10	24547225	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.449000	0.44935	2.410000	0.81850	0.650000	0.86243	GAC		0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		A	24511468	C	A	24511468	3	1	233	1	0	0	0	0	1	0	0	0	3096	855	30	3	1424	3	CDH10	5	24511468	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	10703727	24511468	156403792	30	13281											
RGNEF	64283	genome.wustl.edu	37	5	73142291	73142291	+	Silent	SNP	A	A	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr5:73142291A>G	ENST00000426542.2	+	11	1646	c.1626A>G	c.(1624-1626)ctA>ctG	p.L542L	ARHGEF28_ENST00000545377.1_Silent_p.L542L|ARHGEF28_ENST00000437974.1_Silent_p.L542L|ARHGEF28_ENST00000287898.5_Silent_p.L542L|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000513042.2_Silent_p.L542L|ARHGEF28_ENST00000296794.6_Silent_p.L542L|ARHGEF28_ENST00000296799.4_Silent_p.L229L			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	542					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.L542L(1)									CAAGTAATCTACAGTCGAAGG	0.373																																																1	Substitution - coding silent(1)	ovary(1)	5											82	75	77					5																	73142291		1826	4084	5910	73178047	SO:0001819	synonymous_variant	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1626A>G	5.37:g.73142291A>G			73178047	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																				0.373	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			G	73142291	A	G	73142291	2	3	233	1	0	0	0	0	0	0	0	1	13286	378	14	4		4	RGNEF	5	73142291	Silent	SNP	A	TCGA-24-1470-01A-01W-0553-09	48630823	73142291	107772969	31	13282											
PCDHB10	56126	genome.wustl.edu	37	5	140574499	140574499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr5:140574499C>T	ENST00000239446.4	+	1	2558	c.2374C>T	c.(2374-2376)Cga>Tga	p.R792*		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	792					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)	p.R792*(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCACCTTCCGAAATAGCTT	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	5											42	46	45					5																	140574499		2203	4300	6503	140554683	SO:0001587	stop_gained	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2374C>T	5.37:g.140574499C>T	ENSP00000239446:p.Arg792*		140554683	Q96T99	Nonsense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941820	0.92526	.	.	ENSG00000120324	ENST00000239446	.	.	.	3.47	-6.93	0.01638	.	.	.	.	.	.	.	.	.	.	.	0.22911	N	0.998571	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.9093	0.01291	0.2331:0.2542:0.1154:0.3972	.	.	.	.	X	792	.	ENSP00000239446:R792X	R	+	1	2	PCDHB10	140554683	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-3.209000	0.00557	-1.950000	0.01030	0.461000	0.40582	CGA		0.398	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140574499	C	T	140574499	4	4	233	1	0	0	0	0	0	1	0	0	11535	644	23	1	2376	1	PCDHB10	5	140574499	Nonsense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	67432208	140574499	40340761	32	13283											
HIVEP1	3096	genome.wustl.edu	37	6	12122774	12122774	+	Missense_Mutation	SNP	G	G	A	rs574039329		TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr6:12122774G>A	ENST00000379388.2	+	4	3078	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	916					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G916R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTTGGTACTGGACAGTCCCT	0.517													G|||	1	0.000199681	0	0	5008	,	,		19296	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	6											54	56	55					6																	12122774		2049	4191	6240	12230760	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2746G>A	6.37:g.12122774G>A	ENSP00000368698:p.Gly916Arg		12230760	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	6.944	0.544002	0.13312	.	.	ENSG00000095951	ENST00000379388	T	0.25749	1.78	6.02	3.95	0.45737	.	0.314395	0.18109	N	0.151439	T	0.10551	0.0258	L	0.57536	1.79	0.24048	N	0.996057	B	0.13594	0.008	B	0.13407	0.009	T	0.13522	-1.0506	9	.	.	.	-14.0355	9.4475	0.38706	0.1426:0.0:0.7358:0.1216	.	916	P15822	ZEP1_HUMAN	R	916	ENSP00000368698:G916R	.	G	+	1	0	HIVEP1	12230760	0.209000	0.23505	0.630000	0.29268	0.383000	0.30230	1.616000	0.36933	1.569000	0.49696	0.655000	0.94253	GGA		0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12122774	G	A	12122774	3	1	233	1	0	0	0	0	1	0	0	0	7186	1349	47	2	2756	2	HIVEP1	6	12122774	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09		12122774	158992293	33	13284											
RNF182	221687	genome.wustl.edu	37	6	13978055	13978055	+	Silent	SNP	T	T	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr6:13978055T>C	ENST00000488300.1	+	3	1228	c.705T>C	c.(703-705)gtT>gtC	p.V235V	RNF182_ENST00000537663.1_Silent_p.V235V|RNF182_ENST00000544682.1_Silent_p.V235V|RNF182_ENST00000537388.1_Silent_p.V235V	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	235					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V235V(1)		cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GCCAGTGTGTTTGTCATGAAT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	6											168	157	161					6																	13978055		2203	4300	6503	14086034	SO:0001819	synonymous_variant	221687			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"RING-type (C3HC4) zinc fingers"	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.705T>C	6.37:g.13978055T>C			14086034	B2RDG2|Q8NBG3	Silent	SNP	ENST00000488300.1	37	CCDS4531.1																																																																																				0.418	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737		C	13978055	T	C	13978055	2	2	233	1	0	0	0	0	0	0	0	1	13469	1828	64	4		4	RNF182	6	13978055	Silent	SNP	T	TCGA-24-1470-01A-01W-0553-09	1855281	13978055	157137012	34	13285											
GABBR1	2550	genome.wustl.edu	37	6	29588909	29588909	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr6:29588909T>C	ENST00000377034.4	-	11	1627	c.1292A>G	c.(1291-1293)aAt>aGt	p.N431S	GABBR1_ENST00000376977.3_Missense_Mutation_p.N431S|GABBR1_ENST00000355973.3_Missense_Mutation_p.N314S|GABBR1_ENST00000377016.4_Missense_Mutation_p.N369S|GABBR1_ENST00000377012.4_Missense_Mutation_p.N314S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	431					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.N431S(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATTGGCAGGATTCAGCATGAC	0.547																																																1	Substitution - Missense(1)	ovary(1)	6											133	103	114					6																	29588909		1511	2709	4220	29696888	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1292A>G	6.37:g.29588909T>C	ENSP00000366233:p.Asn431Ser		29696888	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	t	14.78	2.636148	0.47049	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	N	0.11255	0.115	0.58432	D	0.999999	B;P;B;D	0.76494	0.067;0.95;0.428;0.999	B;B;B;D	0.80764	0.084;0.429;0.248;0.994	T	0.72364	-0.4316	10	0.07325	T	0.83	-15.3933	13.8215	0.63322	0.0:0.0:0.0:1.0	.	431;369;431;314	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	S	314;431;369;314;431	ENSP00000348248:N314S;ENSP00000366176:N431S;ENSP00000366215:N369S;ENSP00000366211:N314S;ENSP00000366233:N431S	ENSP00000348248:N314S	N	-	2	0	GABBR1	29696888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.591000	0.82666	2.168000	0.68352	0.520000	0.50463	AAT		0.547	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			C	29588909	T	C	29588909	3	2	233	1	0	0	0	0	1	0	0	0	6155	1493	52	4	1645	4	GABBR1	6	29588909	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09	15610854	29588909	141526158	35	13286											
B3GALT4	8705	genome.wustl.edu	37	6	33245282	33245282	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr6:33245282G>T	ENST00000451237.1	+	1	366	c.86G>T	c.(85-87)gGg>gTg	p.G29V		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	29					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.G29V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCGGGGTTGGGGGAGGAGCTG	0.692																																																1	Substitution - Missense(1)	ovary(1)	6											25	29	27					6																	33245282		2200	4291	6491	33353260	SO:0001583	missense	8705			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.86G>T	6.37:g.33245282G>T	ENSP00000390784:p.Gly29Val		33353260		Missense_Mutation	SNP	ENST00000451237.1	37	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366595	0.61513	.	.	ENSG00000235863	ENST00000451237	D	0.88046	-2.33	4.5	4.5	0.54988	.	.	.	.	.	T	0.76033	0.3931	N	0.19112	0.55	0.38810	D	0.955406	D	0.54772	0.968	P	0.50970	0.655	T	0.74627	-0.3602	9	0.22109	T	0.4	.	12.6434	0.56721	0.0:0.0:1.0:0.0	.	29	O96024	B3GT4_HUMAN	V	29	ENSP00000390784:G29V	ENSP00000390784:G29V	G	+	2	0	B3GALT4	33353260	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	1.395000	0.34520	2.352000	0.79861	0.543000	0.68304	GGG		0.692	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			T	33245282	G	T	33245282	3	4	233	1	0	0	0	0	1	0	0	0	1249	1232	43	3	88	3	B3GALT4	6	33245282	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	3656373	33245282	137869785	36	13287											
BAK1	578	genome.wustl.edu	37	6	33543662	33543662	+	Silent	SNP	G	G	A	rs372257626		TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr6:33543662G>A	ENST00000374467.3	-	3	362	c.114C>T	c.(112-114)taC>taT	p.Y38Y	BAK1_ENST00000360661.5_Silent_p.Y38Y|BAK1_ENST00000442998.2_Silent_p.Y38Y	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	38					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Y38Y(1)		large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GGTAAAAAACGTAGCTGCGGA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	6						G		0,4406		0,0,2203	88	80	83		114	-0.2	1	6		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BAK1	NM_001188.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		38/212	33543662	1,13005	2203	4300	6503	33651640	SO:0001819	synonymous_variant	578			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.114C>T	6.37:g.33543662G>A			33651640	C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	CCDS4781.1																																																																																				0.602	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		A	33543662	G	A	33543662	2	1	233	1	0	0	0	0	0	0	0	1	1305	1140	40	1		1	BAK1	6	33543662	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09	298380	33543662	137571405	37	13288											
NPVF	64111	genome.wustl.edu	37	7	25268013	25268013	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr7:25268013T>A	ENST00000222674.2	-	1	92	c.46A>T	c.(46-48)Act>Tct	p.T16S		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	16					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.T16S(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AAGCTTGAAGTGGCTAAAGTC	0.303																																																1	Substitution - Missense(1)	ovary(1)	7											64	69	67					7																	25268013		2200	4293	6493	25234538	SO:0001583	missense	64111			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"Endogenous ligands"	13782	protein-coding gene	gene with protein product	"RFamide-related peptide precursor", "FMRFamide-related peptide precursor"		"chromosome 7 open reading frame 9"	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.46A>T	7.37:g.25268013T>A	ENSP00000222674:p.Thr16Ser		25234538	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287634	0.23478	.	.	ENSG00000105954	ENST00000222674	T	0.46063	0.88	5.37	4.22	0.49857	.	0.222293	0.31989	N	0.006750	T	0.55847	0.1946	M	0.73962	2.25	0.30230	N	0.796003	D	0.61080	0.989	P	0.57502	0.822	T	0.60475	-0.7256	10	0.66056	D	0.02	-0.7709	9.3383	0.38065	0.0:0.0816:0.0:0.9184	.	16	Q9HCQ7	RFRP_HUMAN	S	16	ENSP00000222674:T16S	ENSP00000222674:T16S	T	-	1	0	NPVF	25234538	1.000000	0.71417	0.998000	0.56505	0.133000	0.20885	1.841000	0.39240	0.870000	0.35726	-0.274000	0.10170	ACT		0.303	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		A	25268013	T	A	25268013	3	1	233	1	0	0	0	0	1	0	0	0	10605	1696	59	5	556	5	NPVF	7	25268013	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09		25268013	133870650	38	13289											
PCLO	27445	genome.wustl.edu	37	7	82546091	82546091	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr7:82546091T>A	ENST00000333891.9	-	7	11548	c.11211A>T	c.(11209-11211)caA>caT	p.Q3737H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3737H|PCLO_ENST00000437081.1_Missense_Mutation_p.Q457H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q3737H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAATGTGGATTGAGTTCCTG	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											139	122	128					7																	82546091		1869	4125	5994	82384027	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11211A>T	7.37:g.82546091T>A	ENSP00000334319:p.Gln3737His		82384027		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261794	0.39995	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.16743	2.33;2.32	5.71	2.48	0.30137	.	.	.	.	.	T	0.25754	0.0627	L	0.51422	1.61	0.42471	D	0.992822	P;D;D	0.59767	0.845;0.986;0.986	B;P;P	0.54100	0.34;0.742;0.742	T	0.03231	-1.1058	9	0.87932	D	0	.	11.0466	0.47863	0.0:0.7039:0.0:0.2961	.	3668;3737;3737	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	3737;3737;457	ENSP00000334319:Q3737H;ENSP00000388393:Q3737H	ENSP00000334319:Q3737H	Q	-	3	2	PCLO	82384027	0.992000	0.36948	0.978000	0.43139	0.883000	0.51084	0.697000	0.25556	0.754000	0.32968	-0.468000	0.05107	CAA		0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82546091	T	A	82546091	3	1	233	1	0	0	0	0	1	0	0	0	11583	1490	52	5	4310	5	PCLO	7	82546091	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09	57278078	82546091	76592572	39	13290											
GPR22	2845	genome.wustl.edu	37	7	107114562	107114562	+	Silent	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr7:107114562G>A	ENST00000304402.4	+	3	1400	c.57G>A	c.(55-57)gtG>gtA	p.V19V	COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	19					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.V19V(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ACATTACAGTGCGAGATGACA	0.368																																																1	Substitution - coding silent(1)	ovary(1)	7											141	113	122					7																	107114562		2203	4300	6503	106901798	SO:0001819	synonymous_variant	2845			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"GPCR / Class A : Orphans"	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.57G>A	7.37:g.107114562G>A			106901798	O14554	Silent	SNP	ENST00000304402.4	37	CCDS5744.1																																																																																				0.368	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			A	107114562	G	A	107114562	2	1	233	1	0	0	0	0	0	0	0	1	6682	1306	46	2		2	GPR22	7	107114562	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09	24568471	107114562	52024101	40	13291											
C7orf58	79974	genome.wustl.edu	37	7	120768471	120768471	+	Silent	SNP	G	G	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr7:120768471G>C	ENST00000310396.5	+	11	1805	c.1338G>C	c.(1336-1338)ctG>ctC	p.L446L	CPED1_ENST00000423795.1_Silent_p.L226L|CPED1_ENST00000450913.2_Silent_p.L446L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	446						endoplasmic reticulum (GO:0005783)		p.L446L(1)									ATCAGTGTCTGTCCTTAGAAG	0.343																																																1	Substitution - coding silent(1)	ovary(1)	7											90	91	91					7																	120768471		2203	4300	6503	120555707	SO:0001819	synonymous_variant	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1338G>C	7.37:g.120768471G>C			120555707	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	CCDS34739.1																																																																																				0.343	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		C	120768471	G	C	120768471	2	2	233	1	0	0	0	0	0	0	0	1	2405	1364	48	3		3	C7orf58	7	120768471	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09	13653909	120768471	38370192	41	13292											
EPHA1	2041	genome.wustl.edu	37	7	143092230	143092230	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr7:143092230A>G	ENST00000275815.3	-	13	2215	c.2129T>C	c.(2128-2130)cTg>cCg	p.L710P		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	710	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.L710P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAAGGCATCCAGGGCTCCATT	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											139	117	124					7																	143092230		2203	4300	6503	142802352	SO:0001583	missense	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2129T>C	7.37:g.143092230A>G	ENSP00000275815:p.Leu710Pro		142802352	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707582	0.68615	.	.	ENSG00000146904	ENST00000275815	D	0.84873	-1.91	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000224	D	0.94837	0.8332	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95768	0.8806	10	0.87932	D	0	.	11.2973	0.49286	0.864:0.0:0.0:0.136	.	710	P21709	EPHA1_HUMAN	P	710	ENSP00000275815:L710P	ENSP00000275815:L710P	L	-	2	0	EPHA1	142802352	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.247000	0.78257	2.157000	0.67596	0.533000	0.62120	CTG		0.582	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			G	143092230	A	G	143092230	3	3	233	1	0	0	0	0	1	0	0	0	5165	188	7	4	825	4	EPHA1	7	143092230	Missense_Mutation	SNP	A	TCGA-24-1470-01A-01W-0553-09	22323759	143092230	16046433	42	13293											
PENK	5179	genome.wustl.edu	37	8	57353863	57353863	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr8:57353863C>G	ENST00000314922.3	-	2	848	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	PENK_ENST00000451791.2_Missense_Mutation_p.E258Q|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	258					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.E258Q(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TATCTTTTTTCCATTTCAGGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	8											77	87	83					8																	57353863		2203	4300	6503	57516417	SO:0001583	missense	5179				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.772G>C	8.37:g.57353863C>G	ENSP00000324248:p.Glu258Gln		57516417	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107101	0.56291	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.74209	-0.82;-0.82	5.91	5.91	0.95273	.	0.095596	0.64402	D	0.000001	T	0.70465	0.3227	L	0.42529	1.33	0.80722	D	1	B	0.34015	0.435	B	0.33960	0.173	T	0.68580	-0.5371	10	0.42905	T	0.14	-17.822	19.2867	0.94077	0.0:1.0:0.0:0.0	.	258	P01210	PENK_HUMAN	Q	258	ENSP00000324248:E258Q;ENSP00000400894:E258Q	ENSP00000324248:E258Q	E	-	1	0	PENK	57516417	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	3.963000	0.56773	2.793000	0.96121	0.655000	0.94253	GAA		0.498	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			G	57353863	C	G	57353863	3	3	233	1	0	0	0	0	1	0	0	0	11727	864	30	3	35	3	PENK	8	57353863	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09		57353863	89010159	43	13294											
SETX	23064	genome.wustl.edu	37	9	135221654	135221654	+	Missense_Mutation	SNP	G	G	T	rs552476047		TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr9:135221654G>T	ENST00000224140.5	-	4	564	c.382C>A	c.(382-384)Cgt>Agt	p.R128S	SETX_ENST00000372169.2_Missense_Mutation_p.R128S|SETX_ENST00000393220.1_Missense_Mutation_p.R128S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	128					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R128S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCACTAACACGTTCATGTAGA	0.333																																																1	Substitution - Missense(1)	ovary(1)	9											113	107	109					9																	135221654		2203	4300	6503	134211475	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.382C>A	9.37:g.135221654G>T	ENSP00000224140:p.Arg128Ser		134211475	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067842	0.55539	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.82893	-1.66;-1.66;-1.66	5.49	5.49	0.81192	.	0.606289	0.16665	N	0.204623	T	0.75258	0.3825	N	0.14661	0.345	0.30563	N	0.764255	P	0.48407	0.91	P	0.45753	0.492	T	0.76572	-0.2910	10	0.56958	D	0.05	.	13.9313	0.63998	0.0:0.0:0.8383:0.1617	.	128	Q7Z333	SETX_HUMAN	S	128	ENSP00000224140:R128S;ENSP00000361242:R128S;ENSP00000376913:R128S	ENSP00000224140:R128S	R	-	1	0	SETX	134211475	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.502000	0.53332	2.596000	0.87737	0.557000	0.71058	CGT		0.333	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		T	135221654	G	T	135221654	3	4	233	1	0	0	0	0	1	0	0	0	14144	1145	40	3	7743	3	SETX	9	135221654	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09		135221654	5991777	44	13295											
AKR1C1	1645	genome.wustl.edu	37	10	5014864	5014864	+	Silent	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr10:5014864C>T	ENST00000380872.4	+	7	961	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Silent_p.L257L	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	257					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.L257L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	CCTGATTGCCCTGCGCTACCA	0.607																																					Colon(130;2054 2316 13360 15380)											1	Substitution - coding silent(1)	ovary(1)	10											92	89	90					10																	5014864		2203	4300	6503	5004864	SO:0001819	synonymous_variant	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.769C>T	10.37:g.5014864C>T			5004864	P52896|Q5SR15|Q7M4N2|Q9UCX2	Silent	SNP	ENST00000380872.4	37	CCDS7061.1																																																																																				0.607	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		T	5014864	C	T	5014864	2	4	233	1	0	0	0	0	0	0	0	1	469	680	24	2		2	AKR1C1	10	5014864	Silent	SNP	C	TCGA-24-1470-01A-01W-0553-09		5014864	130519883	45	13296											
PCDH15	65217	genome.wustl.edu	37	10	55955463	55955463	+	Silent	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr10:55955463G>A	ENST00000320301.6	-	11	1679	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Silent_p.L429L|PCDH15_ENST00000395445.1_Silent_p.L429L|PCDH15_ENST00000395438.1_Silent_p.L429L|PCDH15_ENST00000395430.1_Silent_p.L429L|PCDH15_ENST00000395433.1_Silent_p.L407L|PCDH15_ENST00000395446.1_Silent_p.L429L|PCDH15_ENST00000414778.1_Silent_p.L434L|PCDH15_ENST00000361849.3_Silent_p.L429L|PCDH15_ENST00000373955.1_Silent_p.L429L|PCDH15_ENST00000409834.1_Silent_p.L33L|PCDH15_ENST00000373957.3_Silent_p.L407L|PCDH15_ENST00000437009.1_Silent_p.L429L|PCDH15_ENST00000395432.2_Silent_p.L392L|PCDH15_ENST00000395440.1_Silent_p.L429L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L429L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTTGTCCAGAGCTACTATT	0.373										HNSCC(58;0.16)																																						1	Substitution - coding silent(1)	ovary(1)	10											103	97	99					10																	55955463		2203	4300	6503	55625469	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1285C>T	10.37:g.55955463G>A			55625469	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55955463	G	A	55955463	2	1	233	1	0	0	0	0	0	0	0	1	11511	933	33	2		2	PCDH15	10	55955463	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09	50940599	55955463	79579284	46	13297											
DLG5	9231	genome.wustl.edu	37	10	79601711	79601725	+	In_Frame_Del	DEL	CAGCTCCACTTCGGT	CAGCTCCACTTCGGT	-	rs112570162|rs372158883|rs563925589	byFrequency	TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	CAGCTCCACTTCGGT	CAGCTCCACTTCGGT	CAGCTCCACTTCGGT	-	CAGCTCCACTTCGGT	CAGCTCCACTTCGGT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr10:79601711_79601725delCAGCTCCACTTCGGT	ENST00000372391.2	-	7	1356_1370	c.1351_1365delACCGAAGTGGAGCTG	c.(1351-1365)accgaagtggagctgdel	p.TEVEL451del	DLG5_ENST00000372388.2_In_Frame_Del_p.TEVEL451del	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	451					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.T451_L455del(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGACTCGGCCAGCTCCACTTCGGTCTGCAGCTTG	0.595																																																1	Deletion - In frame(1)	ovary(1)	10																																								79271731	SO:0001651	inframe_deletion	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1351_1365delACCGAAGTGGAGCTG	10.37:g.79601711_79601725delCAGCTCCACTTCGGT	ENSP00000361467:p.Thr451_Leu455del		79271717	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	In_Frame_Del	DEL	ENST00000372391.2	37	CCDS7353.2																																																																																				0.595	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			-	79601725	CAGCTCCACTTCGGT	-	79601711	7	5	233	1	0	1	0	1	0	0	0	0	4558	581	21	0	4498	0	DLG5	10	79601711	In_Frame_Del	DEL	CAGCTCCACTTCGGT	TCGA-24-1470-01A-01W-0553-09	23646248	79601711	55933036	47	13298											
IGSF22	283284	genome.wustl.edu	37	11	18743090	18743090	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr11:18743090C>G	ENST00000513874.1	-	4	509	c.370G>C	c.(370-372)Gtg>Ctg	p.V124L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	124	Ig-like 1.							p.V124L(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ACCTTCAGCACGTGTTCCTTG	0.607											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											126	130	129					11																	18743090		1959	4137	6096	18699666	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.370G>C	11.37:g.18743090C>G	ENSP00000421191:p.Val124Leu	90	18699666	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482728	0.63962	.	.	ENSG00000179057	ENST00000513874	T	0.66638	-0.22	5.06	2.12	0.27331	.	0.262077	0.19877	U	0.104076	T	0.50905	0.1643	L	0.38953	1.18	0.22401	N	0.999133	B	0.29988	0.264	B	0.28991	0.097	T	0.35599	-0.9782	10	0.34782	T	0.22	.	6.8068	0.23782	0.0:0.6081:0.0:0.3919	.	124	D6RGV7	.	L	124	ENSP00000421191:V124L	ENSP00000322422:V124L	V	-	1	0	IGSF22	18699666	0.206000	0.23470	0.984000	0.44739	0.988000	0.76386	0.485000	0.22324	0.241000	0.21283	0.655000	0.94253	GTG		0.607	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		G	18743090	C	G	18743090	3	3	233	1	0	0	0	0	1	0	0	0	7600	536	19	3	3690	3	IGSF22	11	18743090	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09		18743090	116263426	48	13299											
SYT13	57586	genome.wustl.edu	37	11	45274062	45274062	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr11:45274062G>C	ENST00000020926.3	-	4	867	c.756C>G	c.(754-756)caC>caG	p.H252Q	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	252	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.H252Q(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CGGCCACGCTGTGACGGGAGA	0.687											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											46	46	46					11																	45274062		2203	4298	6501	45230638	SO:0001583	missense	57586			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.756C>G	11.37:g.45274062G>C	ENSP00000020926:p.His252Gln	930	45230638	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938200	0.73557	.	.	ENSG00000019505	ENST00000020926	T	0.08282	3.11	5.85	3.96	0.45880	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.053328	0.85682	D	0.000000	T	0.18759	0.0450	M	0.63843	1.955	0.49687	D	0.999817	D	0.60160	0.987	P	0.55345	0.774	T	0.00822	-1.1552	10	0.87932	D	0	.	12.054	0.53524	0.1422:0.0:0.8578:0.0	.	252	Q7L8C5	SYT13_HUMAN	Q	252	ENSP00000020926:H252Q	ENSP00000020926:H252Q	H	-	3	2	SYT13	45230638	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	1.982000	0.40638	1.452000	0.47756	0.561000	0.74099	CAC		0.687	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		C	45274062	G	C	45274062	3	2	233	1	0	0	0	0	1	0	0	0	15469	1368	48	3	536	3	SYT13	11	45274062	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	26530972	45274062	89732454	49	13300											
OR8H2	390151	genome.wustl.edu	37	11	55872963	55872963	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr11:55872963T>G	ENST00000313503.1	+	1	445	c.445T>G	c.(445-447)Tat>Gat	p.Y149D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y149D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CACTGGGCCTTATGTGATTGG	0.453										HNSCC(53;0.14)																																						1	Substitution - Missense(1)	ovary(1)	11											216	194	201					11																	55872963		2201	4296	6497	55629539	SO:0001583	missense	390151			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.445T>G	11.37:g.55872963T>G	ENSP00000323982:p.Tyr149Asp		55629539	Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	15.60	2.881340	0.51801	.	.	ENSG00000181767	ENST00000313503	T	0.38560	1.13	3.58	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000204	T	0.68091	0.2963	M	0.92555	3.32	0.09310	N	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.60875	-0.7176	10	0.87932	D	0	.	9.3203	0.37959	0.0:0.0902:0.0:0.9098	.	149	Q8N162	OR8H2_HUMAN	D	149	ENSP00000323982:Y149D	ENSP00000323982:Y149D	Y	+	1	0	OR8H2	55629539	0.998000	0.40836	0.005000	0.12908	0.006000	0.05464	7.507000	0.81676	0.513000	0.28278	0.362000	0.22060	TAT		0.453	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		G	55872963	T	G	55872963	3	3	233	1	0	0	0	0	1	0	0	0	11238	1754	61	5	447	5	OR8H2	11	55872963	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09	10598901	55872963	79133553	50	13301											
FGF23	8074	genome.wustl.edu	37	12	4479676	4479676	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr12:4479676C>T	ENST00000237837.1	-	3	734	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	197					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.A197T(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GTCATCCGGGCCCGGGGCTTC	0.692																																																1	Substitution - Missense(1)	ovary(1)	12											16	20	19					12																	4479676		2191	4291	6482	4349937	SO:0001583	missense	8074			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.589G>A	12.37:g.4479676C>T	ENSP00000237837:p.Ala197Thr		4349937	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	C	2.628	-0.287044	0.05605	.	.	ENSG00000118972	ENST00000237837	D	0.94092	-3.35	4.84	1.96	0.26148	.	0.835496	0.11122	N	0.597373	D	0.84215	0.5423	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.68284	-0.5449	10	0.13470	T	0.59	-10.1763	5.3032	0.15790	0.1942:0.3641:0.4418:0.0	.	197	Q9GZV9	FGF23_HUMAN	T	197	ENSP00000237837:A197T	ENSP00000237837:A197T	A	-	1	0	FGF23	4349937	0.991000	0.36638	0.217000	0.23759	0.009000	0.06853	0.744000	0.26245	0.228000	0.21019	-0.333000	0.08304	GCC		0.692	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			T	4479676	C	T	4479676	3	4	233	1	0	0	0	0	1	0	0	0	5852	739	26	2	170	2	FGF23	12	4479676	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09		4479676	129372219	51	13302											
ABCC9	10060	genome.wustl.edu	37	12	21953991	21953991	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr12:21953991C>T	ENST00000261200.4	-	38	4636	c.4637G>A	c.(4636-4638)cGc>cAc	p.R1546H		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	0	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R1546H(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATGTCTGCGCGAACAAAAGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											89	83	85					12																	21953991		2203	4300	6503	21845258	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.4637G>A	12.37:g.21953991C>T	ENSP00000261200:p.Arg1546His		21845258	O60707	Missense_Mutation	SNP	ENST00000261200.4	37	CCDS8693.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119438	0.56505	.	.	ENSG00000069431	ENST00000261200	D	0.90676	-2.71	4.88	4.88	0.63580	.	0.116707	0.56097	D	0.000021	D	0.88104	0.6347	L	0.31926	0.97	0.80722	D	1	P;B	0.44627	0.839;0.004	B;B	0.43445	0.42;0.008	D	0.89795	0.3971	10	0.72032	D	0.01	-2.9795	18.5784	0.91163	0.0:1.0:0.0:0.0	.	1546;117	O60706-2;Q8N9N1	.;.	H	1546	ENSP00000261200:R1546H	ENSP00000261200:R1546H	R	-	2	0	ABCC9	21845258	0.822000	0.29219	1.000000	0.80357	0.945000	0.59286	1.588000	0.36633	2.695000	0.91970	0.650000	0.86243	CGC		0.383	ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402228.1	NM_005691		T	21953991	C	T	21953991	3	4	233	1	0	0	0	0	1	0	0	0	59	768	27	1	16	1	ABCC9	12	21953991	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	17474315	21953991	111897904	52	13303											
ARID2	196528	genome.wustl.edu	37	12	46233178	46233178	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr12:46233178A>C	ENST00000334344.6	+	11	1569	c.1397A>C	c.(1396-1398)aAa>aCa	p.K466T	ARID2_ENST00000444670.1_Missense_Mutation_p.K76T|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.K317T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	466					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K466T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTGCGGTAAAACTCATTGAA	0.393			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	ovary(1)	12											160	146	150					12																	46233178		2203	4300	6503	44519445	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1397A>C	12.37:g.46233178A>C	ENSP00000335044:p.Lys466Thr		44519445	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085060	0.76642	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.36878	1.23	5.19	5.19	0.71726	.	0.054672	0.64402	D	0.000001	T	0.54431	0.1858	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.991	D;D;P	0.65684	0.91;0.937;0.749	T	0.58115	-0.7693	10	0.87932	D	0	-11.9181	14.3223	0.66493	1.0:0.0:0.0:0.0	.	466;317;466	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	T	466;317;76	ENSP00000335044:K466T	ENSP00000335044:K466T	K	+	2	0	ARID2	44519445	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.911000	0.69939	2.089000	0.63090	0.533000	0.62120	AAA		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		C	46233178	A	C	46233178	3	2	233	1	0	0	0	0	1	0	0	0	915	14	1	5	1439	5	ARID2	12	46233178	Missense_Mutation	SNP	A	TCGA-24-1470-01A-01W-0553-09	24279187	46233178	87618717	53	13304											
PCDH20	64881	genome.wustl.edu	37	13	61986437	61986437	+	Silent	SNP	G	G	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr13:61986437G>T	ENST00000409186.1	-	5	3900	c.1795C>A	c.(1795-1797)Cga>Aga	p.R599R	PCDH20_ENST00000409204.4_Silent_p.R599R			Q8N6Y1	PCD20_HUMAN	protocadherin 20	599	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R572R(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCTCTTCTCGGTCCAGCTGA	0.463																																																1	Substitution - coding silent(1)	ovary(1)	13											112	110	110					13																	61986437		2203	4300	6503	60884438	SO:0001819	synonymous_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1795C>A	13.37:g.61986437G>T			60884438	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	CCDS9442.2																																																																																				0.463	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		T	61986437	G	T	61986437	2	4	233	1	0	0	0	0	0	0	0	1	11515	1124	39	3		3	PCDH20	13	61986437	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09		61986437	53183441	54	13305											
MYCBP2	23077	genome.wustl.edu	37	13	77754358	77754358	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	G	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr13:77754358T>G	ENST00000544440.2	-	34	4940	c.4923A>C	c.(4921-4923)agA>agC	p.R1641S	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1679S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1641S					MYC binding protein 2, E3 ubiquitin protein ligase									p.R1641S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTTCATTTTCTCTCCTCAGGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	13											180	172	175					13																	77754358		2203	4300	6503	76652359	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4923A>C	13.37:g.77754358T>G	ENSP00000444596:p.Arg1641Ser		76652359		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	T	14.31	2.496738	0.44352	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.58;1.58;1.58	5.67	-2.45	0.06481	.	0.061053	0.64402	D	0.000006	T	0.11750	0.0286	N	0.08118	0	0.35733	D	0.818116	B	0.27498	0.18	B	0.22601	0.04	T	0.09164	-1.0687	10	0.36615	T	0.2	.	7.8362	0.29371	0.107:0.4273:0.0:0.4657	.	1641	O75592	MYCB2_HUMAN	S	1641;1679;1641	ENSP00000349892:R1641S;ENSP00000384288:R1679S;ENSP00000444596:R1641S	ENSP00000349892:R1641S	R	-	3	2	MYCBP2	76652359	1.000000	0.71417	0.992000	0.48379	0.955000	0.61496	1.057000	0.30492	-0.303000	0.08856	-0.250000	0.11733	AGA		0.498	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77754358	T	G	77754358	3	3	233	1	0	0	0	0	1	0	0	0	10018	1548	54	5	9199	5	MYCBP2	13	77754358	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09	15767921	77754358	37415520	55	13306											
RALGAPA1	253959	genome.wustl.edu	37	14	36096537	36096537	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr14:36096537C>T	ENST00000389698.3	-	33	5488	c.5098G>A	c.(5098-5100)Gga>Aga	p.G1700R	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1713R|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1700R|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G1747R	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1700	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.G1700R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTGAGATTCCAGTTCTCTGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	14											62	66	65					14																	36096537		2202	4295	6497	35166288	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5098G>A	14.37:g.36096537C>T	ENSP00000374348:p.Gly1700Arg		35166288	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.826845	0.50739	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.69823	2.125	0.53005	D	0.999965	D;P;D;P	0.89917	1.0;0.768;1.0;0.551	D;B;D;B	0.97110	1.0;0.387;0.984;0.152	D	0.95200	0.8316	10	0.36615	T	0.2	-19.0745	19.5444	0.95285	0.0:1.0:0.0:0.0	.	1747;1713;1700;1700	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	R	1700;1700;1700;1747;338;1713;1747	ENSP00000374348:G1700R;ENSP00000302647:G1700R;ENSP00000258840:G1747R;ENSP00000451133:G338R;ENSP00000371803:G1713R;ENSP00000451877:G1747R	ENSP00000258840:G1747R	G	-	1	0	RALGAPA1	35166288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.683000	0.91414	0.655000	0.94253	GGA		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		T	36096537	C	T	36096537	3	4	233	1	0	0	0	0	1	0	0	0	13016	603	21	2	1197	2	RALGAPA1	14	36096537	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09		36096537	71253003	56	13307											
TRIP11	9321	genome.wustl.edu	37	14	92472684	92472684	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr14:92472684G>A	ENST00000267622.4	-	11	2009	c.1636C>T	c.(1636-1638)Ctt>Ttt	p.L546F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	546					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L546F(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATCTTCAAGTTGATGAACT	0.303			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	1	Substitution - Missense(1)	ovary(1)	14											82	78	79					14																	92472684		2202	4295	6497	91542437	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1636C>T	14.37:g.92472684G>A	ENSP00000267622:p.Leu546Phe		91542437	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.278759|2.278759	0.40294|0.40294	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.08807|.	3.05|.	6.16|6.16	5.28|5.28	0.74379|0.74379	.|.	0.219434|.	0.37437|.	N|.	0.002088|.	T|T	0.65396|0.65396	0.2687|0.2687	M|M	0.74881|0.74881	2.28|2.28	0.35563|0.35563	D|D	0.804839|0.804839	P;D|.	0.89917|.	0.873;1.0|.	B;D|.	0.85130|.	0.403;0.997|.	T|T	0.73953|0.73953	-0.3820|-0.3820	10|5	0.66056|.	D|.	0.02|.	.|.	7.8207|7.8207	0.29286|0.29286	0.1484:0.135:0.7166:0.0|0.1484:0.135:0.7166:0.0	.|.	282;546|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	F|I	546;282|261	ENSP00000267622:L546F|.	ENSP00000267622:L546F|.	L|T	-|-	1|2	0|0	TRIP11|TRIP11	91542437|91542437	0.741000|0.741000	0.28217|0.28217	0.583000|0.583000	0.28640|0.28640	0.207000|0.207000	0.24258|0.24258	1.149000|1.149000	0.31626|0.31626	1.628000|1.628000	0.50416|0.50416	-0.145000|-0.145000	0.13849|0.13849	CTT|ACT		0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			A	92472684	G	A	92472684	3	1	233	1	0	0	0	0	1	0	0	0	16555	1029	36	2	4347	2	TRIP11	14	92472684	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	56376147	92472684	14876856	57	13308											
BTBD12	84464	genome.wustl.edu	37	16	3639355	3639355	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr16:3639355C>A	ENST00000294008.3	-	12	4924	c.4284G>T	c.(4282-4284)tgG>tgT	p.W1428C		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1428	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.W1428C(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCTCCATGTGCCAGCAGCAGT	0.637								Direct reversal of damage																																								1	Substitution - Missense(1)	ovary(1)	16											60	70	66					16																	3639355		2178	4278	6456	3579356	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4284G>T	16.37:g.3639355C>A	ENSP00000294008:p.Trp1428Cys		3579356	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084344	0.76642	.	.	ENSG00000188827	ENST00000294008	T	0.02140	4.43	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	T	0.12646	0.0307	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00013	-1.2415	10	0.62326	D	0.03	.	17.502	0.87734	0.0:1.0:0.0:0.0	.	1428	Q8IY92	SLX4_HUMAN	C	1428	ENSP00000294008:W1428C	ENSP00000294008:W1428C	W	-	3	0	SLX4	3579356	0.947000	0.32204	0.768000	0.31515	0.020000	0.10135	2.839000	0.48207	2.884000	0.98904	0.655000	0.94253	TGG		0.637	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3639355	C	A	3639355	3	1	233	1	0	0	0	0	1	0	0	0	1540	740	26	3	1236	3	BTBD12	16	3639355	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09		3639355	86715398	58	13309											
USP7	7874	genome.wustl.edu	37	16	8990874	8990874	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr16:8990874T>A	ENST00000344836.4	-	26	2999	c.2801A>T	c.(2800-2802)aAa>aTa	p.K934I	USP7_ENST00000535863.1_Missense_Mutation_p.K835I|USP7_ENST00000381886.4_Missense_Mutation_p.K918I	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	934					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.K934I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCCTGATGCTTTCTCCCCAAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	16											290	255	267					16																	8990874		2197	4300	6497	8898375	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2801A>T	16.37:g.8990874T>A	ENSP00000343535:p.Lys934Ile		8898375	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.877051	0.51801	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.08193	3.12;3.12	5.68	5.68	0.88126	.	0.044914	0.85682	D	0.000000	T	0.05090	0.0136	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40869	-0.9540	10	0.44086	T	0.13	.	11.3096	0.49356	0.0:0.0707:0.0:0.9293	.	934;918	Q93009;B7Z815	UBP7_HUMAN;.	I	934;942;835	ENSP00000343535:K934I;ENSP00000443646:K835I	ENSP00000343535:K934I	K	-	2	0	USP7	8898375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.730000	0.47335	2.288000	0.76882	0.528000	0.53228	AAA		0.458	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			A	8990874	T	A	8990874	3	1	233	1	0	0	0	0	1	0	0	0	17088	1841	64	5	531	5	USP7	16	8990874	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09	5351519	8990874	81363879	59	13310											
MYST1	84148	genome.wustl.edu	37	16	31131551	31131551	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr16:31131551C>G	ENST00000543774.2	+	3	591	c.256C>G	c.(256-258)Cga>Gga	p.R86G	KAT8_ENST00000219797.4_Missense_Mutation_p.R86G|RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Missense_Mutation_p.R86G			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	86	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.R86G(1)									CCAGGAGGGCCGAGAGGAATT	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											154	140	145					16																	31131551		2197	4300	6497	31039052	SO:0001583	missense	84148			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17933	protein-coding gene	gene with protein product		609912	"MYST histone acetyltransferase 1"	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.256C>G	16.37:g.31131551C>G	ENSP00000456933:p.Arg86Gly		31039052	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915691	0.33815	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.39406	1.08;1.08	5.83	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	N	0.13272	0.32	0.58432	D	0.99999	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.009	T	0.05354	-1.0890	10	0.22706	T	0.39	-6.9305	13.7408	0.62847	0.2612:0.7388:0.0:0.0	.	86;86	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	G	86	ENSP00000219797:R86G;ENSP00000406037:R86G	ENSP00000219797:R86G	R	+	1	2	KAT8	31039052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.361000	0.44160	2.769000	0.95229	0.655000	0.94253	CGA		0.542	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		G	31131551	C	G	31131551	3	3	233	1	0	0	0	0	1	0	0	0	10102	644	23	3	262	3	MYST1	16	31131551	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	22140677	31131551	59223202	60	13311											
HEATR3	55027	genome.wustl.edu	37	16	50109495	50109495	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr16:50109495G>T	ENST00000299192.7	+	6	827	c.636G>T	c.(634-636)caG>caT	p.Q212H	HEATR3_ENST00000285767.4_Missense_Mutation_p.Q126H	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	212								p.Q212H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATTGTTTGCAGACAGTGACTG	0.378																																																1	Substitution - Missense(1)	ovary(1)	16											108	95	99					16																	50109495		2198	4300	6498	48666996	SO:0001583	missense	55027			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.636G>T	16.37:g.50109495G>T	ENSP00000299192:p.Gln212His		48666996	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	7.705	0.693834	0.15039	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.35048	1.33;1.33	4.94	3.97	0.46021	Armadillo-like helical (1);Armadillo-type fold (1);	0.104699	0.64402	D	0.000003	T	0.24314	0.0589	L	0.31926	0.97	0.33364	D	0.572655	B;B	0.26775	0.119;0.159	B;B	0.22753	0.041;0.024	T	0.21381	-1.0247	10	0.14656	T	0.56	.	11.7767	0.51989	0.1416:0.0:0.8584:0.0	.	126;212	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	H	126;212	ENSP00000285767:Q126H;ENSP00000299192:Q212H	ENSP00000285767:Q126H	Q	+	3	2	HEATR3	48666996	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.214000	0.32419	2.441000	0.82636	0.650000	0.86243	CAG		0.378	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		T	50109495	G	T	50109495	3	4	233	1	0	0	0	0	1	0	0	0	7029	933	33	3	658	3	HEATR3	16	50109495	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	18977944	50109495	40245258	61	13312											
ACADVL	37	genome.wustl.edu	37	17	7125517	7125517	+	Silent	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr17:7125517C>T	ENST00000356839.5	+	9	953	c.774C>T	c.(772-774)atC>atT	p.I258I	ACADVL_ENST00000543245.2_Silent_p.I281I|MIR324_ENST00000362183.1_RNA|DLG4_ENST00000399510.2_5'Flank|ACADVL_ENST00000350303.5_Silent_p.I236I	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	258	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.I258I(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TAGCAGACATCTTCACGGTCT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	17											74	73	73					17																	7125517		2203	4300	6503	7066241	SO:0001819	synonymous_variant	37			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.774C>T	17.37:g.7125517C>T			7066241	B4DEB6|F5H2A9|O76056|Q8WUL0	Silent	SNP	ENST00000356839.5	37	CCDS11090.1																																																																																				0.567	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		T	7125517	C	T	7125517	2	4	233	1	0	0	0	0	0	0	0	1	116	903	32	2		2	ACADVL	17	7125517	Silent	SNP	C	TCGA-24-1470-01A-01W-0553-09		7125517	74069693	62	13313											
TP53	7157	genome.wustl.edu	37	17	7577501	7577501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	-	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr17:7577501delG	ENST00000269305.4	-	7	969	c.780delC	c.(778-780)tccfs	p.S261fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S260fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S261fs|TP53_ENST00000574684.1_5'Flank	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	261	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S260S(4)|p.S260_S261insX(3)|p.S261fs*84(2)|p.?(1)|p.E258fs*71(1)|p.S260_S261delSS(1)|p.S261fs*151(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.S260del(1)|p.S261fs*4(1)|p.S261fs*3(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)	CTCCTGACCTGGAGTCTTCCA	0.577		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"	26	Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - coding silent(4)|Deletion - In frame(3)|Insertion - Frameshift(3)|Insertion - In frame(3)|Unknown(1)	ovary(6)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|central_nervous_system(2)|oesophagus(2)|lung(2)|breast(1)|pancreas(1)	17											127	89	102					17																	7577501		2203	4300	6503	7518226	SO:0001589	frameshift_variant	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.780delC	17.37:g.7577501delG	ENSP00000269305:p.Ser261fs		7518226	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577501	G	-	7577501	7	5	233	1	0	1	0	1	0	0	0	0	16381	1335	47	0	510	0	TP53	17	7577501	Frame_Shift_Del	DEL	G	TCGA-24-1470-01A-01W-0553-09	451984	7577501	73617709	63	13314											
NF1	4763	genome.wustl.edu	37	17	29661888	29661906	+	Frame_Shift_Del	DEL	ATGACTCCATGGCTGTCAA	ATGACTCCATGGCTGTCAA	-	rs199474791|rs199474792		TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	ATGACTCCATGGCTGTCAA	ATGACTCCATGGCTGTCAA	ATGACTCCATGGCTGTCAA	-	ATGACTCCATGGCTGTCAA	ATGACTCCATGGCTGTCAA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr17:29661888_29661906delATGACTCCATGGCTGTCAA	ENST00000358273.4	+	40	6228_6246	c.5845_5863delATGACTCCATGGCTGTCAA	c.(5845-5865)atgactccatggctgtcaaatfs	p.MTPWLSN1949fs	NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Frame_Shift_Del_p.MTPWLSN1928fs|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1949					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.M1949fs*2(1)|p.P1951fs*6(1)|p.P1951L(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCG	0.329			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Substitution - Missense(1)	soft_tissue(8)|autonomic_ganglia(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	17	GRCh37	CD001524|CD030340|CD031066|CM062912|CM071891|CM076347|CM900172|CM971052	NF1	D|M																																				26686032	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5845_5863delATGACTCCATGGCTGTCAA	17.37:g.29661888_29661906delATGACTCCATGGCTGTCAA	ENSP00000351015:p.Met1949fs		26686014	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.329	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29661906	ATGACTCCATGGCTGTCAA	-	29661888	7	5	233	1	0	1	0	1	0	0	0	0	10356	217	8	0	6064	0	NF1	17	29661888	Frame_Shift_Del	DEL	ATGACTCCATGGCTGTCAA	TCGA-24-1470-01A-01W-0553-09	22084387	29661888	51533322	64	13315											
TUBG1	7283	genome.wustl.edu	37	17	40764133	40764133	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr17:40764133G>T	ENST00000251413.3	+	4	433	c.371G>T	c.(370-372)cGg>cTg	p.R124L	FAM134C_ENST00000309428.5_5'Flank|FAM134C_ENST00000543197.1_5'Flank|FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	124					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R124L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	ATCATAGACCGGGAGGCAGAT	0.537																																					Colon(20;114 698 11420 22864)											1	Substitution - Missense(1)	ovary(1)	17											111	97	102					17																	40764133		2203	4300	6503	38017659	SO:0001583	missense	7283			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.371G>T	17.37:g.40764133G>T	ENSP00000251413:p.Arg124Leu		38017659	Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951871	0.73787	.	.	ENSG00000131462	ENST00000251413	T	0.72394	-0.65	5.37	5.37	0.77165	Tubulin/FtsZ, GTPase domain (4);	0.196859	0.32343	U	0.006238	D	0.89269	0.6667	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92324	0.5868	10	0.87932	D	0	-11.3346	18.7557	0.91832	0.0:0.0:1.0:0.0	.	124	P23258	TBG1_HUMAN	L	124	ENSP00000251413:R124L	ENSP00000251413:R124L	R	+	2	0	TUBG1	38017659	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	9.729000	0.98795	2.519000	0.84933	0.467000	0.42956	CGG		0.537	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		T	40764133	G	T	40764133	3	4	233	1	0	0	0	0	1	0	0	0	16764	1116	39	3	385	3	TUBG1	17	40764133	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	11102245	40764133	40431077	65	13316											
KIAA0802	23255	genome.wustl.edu	37	18	8819131	8819131	+	Silent	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr18:8819131G>A	ENST00000306329.11	+	11	3987	c.3987G>A	c.(3985-3987)aaG>aaA	p.K1329K	SOGA2_ENST00000359865.3_Silent_p.K1010K|SOGA2_ENST00000306285.7_Silent_p.K335K|SOGA2_ENST00000400050.3_Silent_p.K969K|SOGA2_ENST00000517570.1_Silent_p.K969K|SOGA2_ENST00000518815.1_Silent_p.K335K														p.K1010K(1)									CGCTGTCCAAGCTGAAGGAGT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	18											49	46	47					18																	8819131		2203	4300	6503	8809131	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.3987G>A	18.37:g.8819131G>A			8809131		Silent	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	G	7.780	0.709365	0.15239	.	.	ENSG00000168502	ENST00000519823	.	.	.	6.07	2.26	0.28386	.	.	.	.	.	T	0.59238	0.2179	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55496	-0.8132	4	.	.	.	-57.9712	10.1874	0.43006	0.3232:0.0:0.6768:0.0	.	.	.	.	T	116	.	.	A	+	1	0	CCDC165	8809131	1.000000	0.71417	0.990000	0.47175	0.557000	0.35523	1.038000	0.30254	0.878000	0.35920	0.655000	0.94253	GCT		0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			A	8819131	G	A	8819131	2	1	233	1	0	0	0	0	0	0	0	1	8194	962	34	2		2	KIAA0802	18	8819131	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09		8819131	69258117	66	13317											
CCDC11	220136	genome.wustl.edu	37	18	47788430	47788430	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr18:47788430T>A	ENST00000398545.4	-	2	346	c.229A>T	c.(229-231)Agc>Tgc	p.S77C		NM_145020.3	NP_659457.2												p.S77C(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CGCACAAGGCTGTCCAAAATC	0.438																																																1	Substitution - Missense(1)	ovary(1)	18											176	162	166					18																	47788430		1930	4148	6078	46042428	SO:0001583	missense	220136																														ENST00000398545.4:c.229A>T	18.37:g.47788430T>A	ENSP00000381553:p.Ser77Cys		46042428		Missense_Mutation	SNP	ENST00000398545.4	37	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	T	8.076	0.771223	0.16051	.	.	ENSG00000172361	ENST00000398545	T	0.32753	1.44	5.12	2.65	0.31530	.	0.836117	0.09770	U	0.758070	T	0.23727	0.0574	L	0.51422	1.61	0.09310	N	1	P	0.46327	0.876	B	0.36186	0.219	T	0.18587	-1.0332	10	0.59425	D	0.04	-0.9526	5.1665	0.15088	0.0:0.0928:0.1817:0.7255	.	77	Q96M91	CCD11_HUMAN	C	77	ENSP00000381553:S77C	ENSP00000381553:S77C	S	-	1	0	CCDC11	46042428	0.901000	0.30685	0.003000	0.11579	0.061000	0.15899	2.367000	0.44213	0.469000	0.27268	-0.371000	0.07208	AGC		0.438	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			A	47788430	T	A	47788430	3	1	233	1	0	0	0	0	1	0	0	0	2746	1580	55	5	1343	5	CCDC11	18	47788430	Missense_Mutation	SNP	T	TCGA-24-1470-01A-01W-0553-09	38969299	47788430	30288818	67	13318											
C18orf54	162681	genome.wustl.edu	37	18	51889233	51889233	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr18:51889233C>G	ENST00000300091.5	+	4	1014	c.682C>G	c.(682-684)Cct>Gct	p.P228A	C18orf54_ENST00000578138.1_Missense_Mutation_p.P7A|C18orf54_ENST00000382911.4_Missense_Mutation_p.P389A	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	228						extracellular region (GO:0005576)		p.P228A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GGATGACAGTCCTTGCTCATT	0.353																																																1	Substitution - Missense(1)	ovary(1)	18											90	89	89					18																	51889233		2203	4300	6503	50143231	SO:0001583	missense	162681			AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"lung adenoma susceptibility protein 2"	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.682C>G	18.37:g.51889233C>G	ENSP00000300091:p.Pro228Ala		50143231	I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617117	0.28801	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.38560	1.13;1.13	5.12	5.12	0.69794	.	0.064020	0.64402	D	0.000006	T	0.60483	0.2272	L	0.55481	1.735	0.31349	N	0.682763	D;D	0.89917	0.999;1.0	D;D	0.91635	0.983;0.999	T	0.63093	-0.6714	10	0.41790	T	0.15	0.749	17.3157	0.87224	0.0:1.0:0.0:0.0	.	389;228	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	A	228;389	ENSP00000300091:P228A;ENSP00000372368:P389A	ENSP00000300091:P228A	P	+	1	0	C18orf54	50143231	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.216000	0.65246	2.386000	0.81285	0.491000	0.48974	CCT		0.353	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		G	51889233	C	G	51889233	3	3	233	1	0	0	0	0	1	0	0	0	1904	855	30	3	692	3	C18orf54	18	51889233	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	4100803	51889233	26188015	68	13319											
ZNF98	148198	genome.wustl.edu	37	19	22574616	22574616	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr19:22574616G>A	ENST00000357774.5	-	4	1542	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S474F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AAGAGTTGAGGACTGGTTAAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	19											39	34	36					19																	22574616		1804	3691	5495	22366456	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1421C>T	19.37:g.22574616G>A	ENSP00000350418:p.Ser474Phe		22366456		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	0.696	-0.792547	0.02884	.	.	ENSG00000197360	ENST00000357774	T	0.35421	1.31	1.26	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29061	0.0722	M	0.67953	2.075	0.09310	N	1	B	0.13594	0.008	B	0.15052	0.012	T	0.32719	-0.9896	9	0.30854	T	0.27	.	3.5479	0.07835	0.0:0.3649:0.2532:0.3819	.	474	A6NK75	ZNF98_HUMAN	F	474	ENSP00000350418:S474F	ENSP00000350418:S474F	S	-	2	0	ZNF98	22366456	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.358000	0.02604	-0.240000	0.09696	0.289000	0.19496	TCC		0.368	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		A	22574616	G	A	22574616	3	1	233	1	0	0	0	0	1	0	0	0	18203	1174	41	2	301	2	ZNF98	19	22574616	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09		22574616	36554367	69	13320											
ZNF91	7644	genome.wustl.edu	37	19	23545269	23545269	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr19:23545269C>G	ENST00000300619.7	-	4	717	c.512G>C	c.(511-513)aGa>aCa	p.R171T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R139T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	171					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R171T(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATCGTATGTCTGTTTGAATT	0.313																																																1	Substitution - Missense(1)	ovary(1)	19											60	60	60					19																	23545269		2039	4238	6277	23337109	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.512G>C	19.37:g.23545269C>G	ENSP00000300619:p.Arg171Thr		23337109	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	0.303	-0.972842	0.02215	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.15718	2.4;2.4	0.898	0.898	0.19264	.	.	.	.	.	T	0.12008	0.0292	L	0.56769	1.78	0.09310	N	1	B;P	0.43392	0.19;0.805	B;B	0.34180	0.026;0.177	T	0.22103	-1.0226	9	0.19590	T	0.45	.	4.929	0.13907	0.0:1.0:0.0:0.0	.	139;171	Q05481-2;Q05481	.;ZNF91_HUMAN	T	171;139	ENSP00000300619:R171T;ENSP00000380272:R139T	ENSP00000300619:R171T	R	-	2	0	ZNF91	23337109	0.013000	0.17824	0.024000	0.17045	0.034000	0.12701	0.497000	0.22514	0.284000	0.22305	0.289000	0.19496	AGA		0.313	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		G	23545269	C	G	23545269	3	3	233	1	0	0	0	0	1	0	0	0	18200	913	32	3	3067	3	ZNF91	19	23545269	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	970653	23545269	35583714	70	13321											
MED29	55588	genome.wustl.edu	37	19	39882225	39882225	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr19:39882225G>C	ENST00000599213.2	+	1	190	c.163G>C	c.(163-165)Gat>Cat	p.D55H	PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000315588.5_Missense_Mutation_p.D76H|PAF1_ENST00000595564.1_5'Flank|PAF1_ENST00000221265.3_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.D55H			Q9NX70	MED29_HUMAN	mediator complex subunit 29	55	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)		p.D76H(1)		lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACAGGACTTCGATCCTGTGCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	19											42	43	43					19																	39882225		2203	4299	6502	44574065	SO:0001583	missense	55588			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.163G>C	19.37:g.39882225G>C	ENSP00000471802:p.Asp55His		44574065	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.301232	0.95601	.	.	ENSG00000063322	ENST00000315588	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	M	0.76170	2.325	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80692	-0.1269	9	0.87932	D	0	-33.4419	15.5372	0.76013	0.0:0.0:1.0:0.0	.	55;76	Q9NX70;B4DUA7	MED29_HUMAN;.	H	76	.	ENSP00000314343:D76H	D	+	1	0	MED29	44574065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.920000	0.92779	2.734000	0.93682	0.655000	0.94253	GAT		0.597	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		C	39882225	G	C	39882225	3	2	233	1	0	0	0	0	1	0	0	0	9447	1058	37	3	228	3	MED29	19	39882225	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	16336956	39882225	19246758	71	13322											
NAPB	63908	genome.wustl.edu	37	20	23360089	23360089	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr20:23360089G>T	ENST00000377026.4	-	10	864	c.779C>A	c.(778-780)aCt>aAt	p.T260N	NAPB_ENST00000432543.2_Missense_Mutation_p.T221N|NAPB_ENST00000398425.3_Missense_Mutation_p.T166N|NAPB_ENST00000472855.1_5'UTR|RNA5SP479_ENST00000364858.1_RNA	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	260					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.T260N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					TACTGCTTCAGTGTAAGCTTC	0.303																																																1	Substitution - Missense(1)	ovary(1)	20											128	124	125					20																	23360089		2202	4300	6502	23308089	SO:0001583	missense	10801			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.779C>A	20.37:g.23360089G>T	ENSP00000366225:p.Thr260Asn		23308089	B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	ENST00000377026.4	37	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283398	0.95489	.	.	ENSG00000125814	ENST00000377026;ENST00000398425;ENST00000432543;ENST00000431864	T;T;T	0.76709	-1.04;-1.04;-1.04	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	M	0.90369	3.11	0.80722	D	1	P;P;P;P	0.47962	0.903;0.903;0.903;0.903	P;P;P;P	0.57009	0.692;0.692;0.811;0.811	D	0.90778	0.4677	10	0.87932	D	0	-18.1847	18.8442	0.92198	0.0:0.0:1.0:0.0	.	221;166;264;260	B4DK44;Q4G0M0;B4DIV0;Q9H115	.;.;.;SNAB_HUMAN	N	260;166;221;217	ENSP00000366225:T260N;ENSP00000381459:T166N;ENSP00000413600:T221N	ENSP00000366225:T260N	T	-	2	0	NAPB	23308089	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.711000	0.98735	2.752000	0.94435	0.650000	0.86243	ACT		0.303	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		T	23360089	G	T	23360089	3	4	233	1	0	0	0	0	1	0	0	0	10162	1029	36	3	125	3	NAPB	20	23360089	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09		23360089	39665431	72	13323											
ABCG1	9619	genome.wustl.edu	37	21	43710219	43710219	+	Silent	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr21:43710219G>A	ENST00000361802.2	+	11	1465	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398437.1_Silent_p.L586L|ABCG1_ENST00000398457.2_Silent_p.L430L|ABCG1_ENST00000340588.4_Silent_p.L548L|ABCG1_ENST00000343687.3_Silent_p.L439L|ABCG1_ENST00000398449.3_Silent_p.L428L|ABCG1_ENST00000347800.2_Silent_p.L425L	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	440	ABC transmembrane type-2.				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.L440L(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)	TTGGCCTGCTGTACTTGGGGA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	21											192	143	159					21																	43710219		2203	4300	6503	42583288	SO:0001819	synonymous_variant	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.1320G>A	21.37:g.43710219G>A			42583288	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	G	9.739	1.164465	0.21538	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.49	-2.6	0.06190	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55457	-0.8138	4	.	.	.	-32.6727	11.1469	0.48436	0.2033:0.3057:0.491:0.0	.	.	.	.	I	176;164;164	.	.	V	+	1	0	ABCG1	42583288	0.113000	0.22115	0.996000	0.52242	0.971000	0.66376	-0.668000	0.05268	-0.170000	0.10816	-0.344000	0.07964	GTA		0.582	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		A	43710219	G	A	43710219	2	1	233	1	0	0	0	0	0	0	0	1	68	1364	48	2		2	ABCG1	21	43710219	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09		43710219	4419676	73	13324											
UBASH3A	53347	genome.wustl.edu	37	21	43838668	43838668	+	Silent	SNP	G	G	A	rs138698980		TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr21:43838668G>A	ENST00000319294.6	+	7	1027	c.996G>A	c.(994-996)ccG>ccA	p.P332P	RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Silent_p.P294P|UBASH3A_ENST00000398367.1_Silent_p.P294P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	332	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P332P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GCTTCCTGCCGGAAAACTACA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	21						G	,	1,4405	2.1+/-5.4	0,1,2202	42	45	44		882,996	-10.6	0	21	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	UBASH3A	NM_001001895.2,NM_018961.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	294/624,332/662	43838668	2,13004	2203	4300	6503	42711737	SO:0001819	synonymous_variant	53347			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.996G>A	21.37:g.43838668G>A			42711737	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	CCDS13687.1																																																																																				0.607	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		A	43838668	G	A	43838668	2	1	233	1	0	0	0	0	0	0	0	1	16839	1103	39	1		1	UBASH3A	21	43838668	Silent	SNP	G	TCGA-24-1470-01A-01W-0553-09	128449	43838668	4291227	74	13325											
PCNT	5116	genome.wustl.edu	37	21	47851839	47851839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr21:47851839C>T	ENST00000359568.5	+	38	8568	c.8461C>T	c.(8461-8463)Cag>Tag	p.Q2821*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2821					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.Q2821*(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)					TTCTCAGCAGCAGCTTGAGGC	0.572																																																1	Substitution - Nonsense(1)	ovary(1)	21											60	56	58					21																	47851839		2203	4300	6503	46676267	SO:0001587	stop_gained	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.8461C>T	21.37:g.47851839C>T	ENSP00000352572:p.Gln2821*		46676267	O43152|Q7Z7C9	Nonsense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	47	13.028092	0.99714	.	.	ENSG00000160299	ENST00000359568	.	.	.	5.32	1.15	0.20763	.	0.000000	0.32273	N	0.006333	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	9.852	0.41061	0.2464:0.49:0.2636:0.0	.	.	.	.	X	2821	.	ENSP00000352572:Q2821X	Q	+	1	0	PCNT	46676267	0.997000	0.39634	0.010000	0.14722	0.081000	0.17604	0.775000	0.26689	0.317000	0.23160	0.655000	0.94253	CAG		0.572	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		T	47851839	C	T	47851839	4	4	233	1	0	0	0	0	0	1	0	0	11590	711	25	2	8611	2	PCNT	21	47851839	Nonsense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	4013171	47851839	278056	75	13326											
SEZ6L	23544	genome.wustl.edu	37	22	26747080	26747080	+	Silent	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr22:26747080C>T	ENST00000248933.6	+	12	2565	c.2470C>T	c.(2470-2472)Ctg>Ttg	p.L824L	SEZ6L_ENST00000411842.2_Silent_p.L21L|SEZ6L_ENST00000529632.2_Silent_p.L824L|SEZ6L_ENST00000402979.1_Silent_p.L597L|SEZ6L_ENST00000403121.1_Silent_p.L597L|SEZ6L_ENST00000343706.4_Silent_p.L824L|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000404234.3_Silent_p.L824L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	824	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.L824L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGATCCTGTGCTGCTGGTGGG	0.552																																																1	Substitution - coding silent(1)	ovary(1)	22											123	106	112					22																	26747080		2203	4300	6503	25077080	SO:0001819	synonymous_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2470C>T	22.37:g.26747080C>T			25077080	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																				0.552	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			T	26747080	C	T	26747080	2	4	233	1	0	0	0	0	0	0	0	1	14146	796	28	2		2	SEZ6L	22	26747080	Silent	SNP	C	TCGA-24-1470-01A-01W-0553-09		26747080	24557486	76	13327											
APOBEC3D	140564	genome.wustl.edu	37	22	39427839	39427839	+	Silent	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr22:39427839C>T	ENST00000216099.8	+	6	1310	c.903C>T	c.(901-903)gcC>gcT	p.A301A	APOBEC3D_ENST00000427494.2_Silent_p.A117A|APOBEC3D_ENST00000381568.4_Silent_p.A301A	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	301					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.A301A(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GGGAGGTGGCCGAGTTCCTGG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	22											65	66	65					22																	39427839		1568	3578	5146	37757785	SO:0001819	synonymous_variant	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.903C>T	22.37:g.39427839C>T			37757785	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	CCDS46709.1																																																																																				0.562	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		T	39427839	C	T	39427839	2	4	233	1	0	0	0	0	0	0	0	1	792	639	23	1		1	APOBEC3D	22	39427839	Silent	SNP	C	TCGA-24-1470-01A-01W-0553-09	12680759	39427839	11876727	77	13328											
CPT1B	1375	genome.wustl.edu	37	22	51011371	51011371	+	Missense_Mutation	SNP	C	C	T	rs546046921		TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chr22:51011371C>T	ENST00000360719.2	-	11	1422	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Missense_Mutation_p.D226N|CPT1B_ENST00000395650.2_Missense_Mutation_p.D429N|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.D429N|CPT1B_ENST00000457250.1_Missense_Mutation_p.D395N|CPT1B_ENST00000405237.3_Missense_Mutation_p.D429N	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	429					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.D429N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCTTCGGGGTCATAGGAGTAG	0.577																																					Esophageal Squamous(170;988 1933 25577 30295 48163)											1	Substitution - Missense(1)	ovary(1)	22											125	119	121					22																	51011371		2203	4300	6503	49358237	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1285G>A	22.37:g.51011371C>T	ENSP00000353945:p.Asp429Asn		49358237	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	5.896	0.349399	0.11182	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	4.98	1.57	0.23409	.	0.264809	0.41294	N	0.000914	T	0.77942	0.4206	N	0.21617	0.685	0.35168	D	0.771277	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.005	T	0.68221	-0.5466	10	0.33141	T	0.24	-16.1375	6.5162	0.22248	0.0:0.3931:0.0:0.6069	.	395;226;429	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	N	429;429;429;395;226;429	ENSP00000385486:D429N;ENSP00000312189:D429N;ENSP00000353945:D429N;ENSP00000409342:D395N;ENSP00000410966:D226N;ENSP00000379011:D429N	ENSP00000312189:D429N	D	-	1	0	CPT1B	49358237	0.997000	0.39634	0.172000	0.22920	0.075000	0.17131	2.203000	0.42752	0.144000	0.18951	-0.258000	0.10820	GAC		0.577	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		T	51011371	C	T	51011371	3	4	233	1	0	0	0	0	1	0	0	0	3832	826	29	2	1069	2	CPT1B	22	51011371	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09	11583532	51011371	293195	78	13329											
DHRSX	207063	genome.wustl.edu	37	X	2326807	2326807	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chrX:2326807C>T	ENST00000334651.5	-	3	317	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	89							oxidoreductase activity (GO:0016491)	p.E89K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAGGTTTCTTCTTTTATTTTG	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											346	321	329					X																	2326807		2201	4296	6497	2336807	SO:0001583	missense	207063			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.265G>A	X.37:g.2326807C>T	ENSP00000334113:p.Glu89Lys		2336807	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	c	11.70	1.717250	0.30413	.	.	ENSG00000169084	ENST00000334651;ENST00000444280	T;D	0.84730	-1.04;-1.89	1.14	0.21	0.15231	NAD(P)-binding domain (1);	0.427376	0.19544	U	0.111722	T	0.62720	0.2451	N	0.17082	0.46	0.09310	N	1	B	0.32409	0.37	B	0.28011	0.085	T	0.55309	-0.8161	10	0.06625	T	0.88	.	3.5453	0.07826	0.0:0.717:0.0:0.283	.	89	Q8N5I4	DHRSX_HUMAN	K	89;22	ENSP00000334113:E89K;ENSP00000402741:E22K	ENSP00000334113:E89K	E	-	1	0	DHRSX	2336807	0.772000	0.28567	0.001000	0.08648	0.087000	0.18053	1.604000	0.36804	0.045000	0.15804	0.280000	0.19369	GAA		0.373	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		T	2326807	C	T	2326807	3	4	233	1	0	0	0	0	1	0	0	0	4499	922	32	2	747	2	DHRSX	23	2326807	Missense_Mutation	SNP	C	TCGA-24-1470-01A-01W-0553-09		2326807	152943753	79	13330											
MXRA5	25878	genome.wustl.edu	37	X	3241268	3241268	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chrX:3241268G>A	ENST00000217939.6	-	5	2612	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	820						extracellular vesicular exosome (GO:0070062)		p.P820S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAGGAAAAGGTGGTGTGACT	0.478																																																1	Substitution - Missense(1)	ovary(1)	X											145	141	143					X																	3241268		2203	4300	6503	3251268	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2458C>T	X.37:g.3241268G>A	ENSP00000217939:p.Pro820Ser		3251268	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	6.428	0.447128	0.12223	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.63	2.75	0.32379	.	1.000890	0.08064	U	0.998801	T	0.42743	0.1216	N	0.08118	0	0.09310	N	1	P	0.44578	0.838	B	0.41135	0.348	T	0.26780	-1.0093	10	0.56958	D	0.05	.	7.292	0.26372	0.0:0.2058:0.613:0.1812	.	820	Q9NR99	MXRA5_HUMAN	S	820	ENSP00000217939:P820S	ENSP00000217939:P820S	P	-	1	0	MXRA5	3251268	0.622000	0.27085	0.000000	0.03702	0.007000	0.05969	1.128000	0.31369	0.387000	0.25024	0.529000	0.55759	CCT		0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3241268	G	A	3241268	3	1	233	1	0	0	0	0	1	0	0	0	10003	1261	44	2	6040	2	MXRA5	23	3241268	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	914461	3241268	152029292	80	13331											
UBQLN2	29978	genome.wustl.edu	37	X	56591172	56591172	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chrX:56591172G>T	ENST00000338222.5	+	1	1147	c.866G>T	c.(865-867)gGt>gTt	p.G289V		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	289					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G289V(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CAGTTTGGGGGTAATCCATTT	0.532																																					Esophageal Squamous(104;218 1492 6022 10838 28884)											1	Substitution - Missense(1)	ovary(1)	X											52	49	50					X																	56591172		2203	4300	6503	56607897	SO:0001583	missense	29978			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.866G>T	X.37:g.56591172G>T	ENSP00000345195:p.Gly289Val		56607897	O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720218	0.48728	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.79454	-1.27	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	D	0.87617	0.6222	M	0.82193	2.58	0.80722	D	1	D;D	0.65815	0.995;0.992	D;D	0.66196	0.942;0.917	D	0.88810	0.3291	10	0.56958	D	0.05	-6.7153	14.6902	0.69080	0.0:0.0:1.0:0.0	.	289;289	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	V	289	ENSP00000345195:G289V	ENSP00000345195:G289V	G	+	2	0	UBQLN2	56607897	0.965000	0.33210	1.000000	0.80357	0.896000	0.52359	2.033000	0.41136	2.440000	0.82611	0.600000	0.82982	GGT		0.532	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		T	56591172	G	T	56591172	3	4	233	1	0	0	0	0	1	0	0	0	16897	1261	44	3	868	3	UBQLN2	23	56591172	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	53349904	56591172	98679388	81	13332											
LPAR4	2846	genome.wustl.edu	37	X	78011285	78011285	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1470-01A-01W-0553-09	TCGA-24-1470-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	1d2bf111-910b-4ce9-8638-ab992b414e65	60102268-7f80-4d74-aab6-a2cdd0f221d6	g.chrX:78011285G>T	ENST00000435339.3	+	2	1305	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	307					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.D307N(1)|p.D307Y(1)|p.D307H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTGTTGTTTTGACCCTTTCAT	0.418																																																3	Substitution - Missense(3)	ovary(2)|breast(1)	X											197	159	172					X																	78011285		2203	4300	6503	77897941	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.919G>T	X.37:g.78011285G>T	ENSP00000408205:p.Asp307Tyr		77897941	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116900	0.56505	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.74209	-0.82;-0.82	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.89908	0.6851	H	0.95982	3.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92988	0.6412	10	0.87932	D	0	.	13.9688	0.64225	0.0:0.0:1.0:0.0	.	307	Q99677	LPAR4_HUMAN	Y	307	ENSP00000408205:D307Y;ENSP00000362398:D307Y	ENSP00000362398:D307Y	D	+	1	0	LPAR4	77897941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.112000	0.94314	1.832000	0.53329	0.422000	0.28245	GAC		0.418	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		T	78011285	G	T	78011285	3	4	233	1	0	0	0	0	1	0	0	0	8907	1290	45	3	921	3	LPAR4	23	78011285	Missense_Mutation	SNP	G	TCGA-24-1470-01A-01W-0553-09	21420113	78011285	77259275	82	13333											
HRNR	388697	broad.mit.edu	37	1	152193357	152193357	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr1:152193357C>T	ENST00000368801.2	-	3	823	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	250					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G250S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTGAGCCAGATCCATGC	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											310	292	298					1																	152193357		2203	4300	6503	150459981	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.748G>A	1.37:g.152193357C>T	ENSP00000357791:p.Gly250Ser		150459981	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336881	0.24253	.	.	ENSG00000197915	ENST00000368801	T	0.05447	3.44	4.48	-8.08	0.01094	.	.	.	.	.	T	0.00724	0.0024	N	0.24115	0.695	0.09310	N	1	B	0.26081	0.141	B	0.23574	0.047	T	0.45440	-0.9261	9	0.06365	T	0.9	.	5.9622	0.19305	0.209:0.28:0.0:0.511	.	250	Q86YZ3	HORN_HUMAN	S	250	ENSP00000357791:G250S	ENSP00000357791:G250S	G	-	1	0	HRNR	150459981	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.643000	0.00862	-2.047000	0.00908	-0.151000	0.13558	GGC		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152193357	C	T	152193357	3	4	234	1	0	0	0	0	1	0	0	0	7359	594	21	2	7808	2	HRNR	1	152193357	Missense_Mutation	SNP	C	TCGA-24-1471-01A-01W-0551-08		152193357	97057264	1	13334											
PPP2R5A	5525	broad.mit.edu	37	1	212530010	212530010	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr1:212530010C>A	ENST00000261461.2	+	9	1544	c.970C>A	c.(970-972)Cag>Aag	p.Q324K	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.Q267K|RP11-384C4.2_ENST00000447949.1_RNA	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	324					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)	p.Q324K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AACCTGCAGTCAGAAAGAGGT	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											92	93	92					1																	212530010		2203	4300	6503	210596633	SO:0001583	missense	5525			BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.970C>A	1.37:g.212530010C>A	ENSP00000261461:p.Gln324Lys		210596633	B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192798	0.78902	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	M	0.93638	3.44	0.80722	D	1	B;B	0.25719	0.132;0.132	B;B	0.32762	0.152;0.152	T	0.82928	-0.0214	9	0.72032	D	0.01	-12.3677	19.3719	0.94492	0.0:1.0:0.0:0.0	.	267;324	B7Z7L2;Q15172	.;2A5A_HUMAN	K	324;324;267	.	ENSP00000261461:Q324K	Q	+	1	0	PPP2R5A	210596633	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.621000	0.83083	2.639000	0.89480	0.655000	0.94253	CAG		0.403	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		A	212530010	C	A	212530010	3	1	234	1	0	0	0	0	1	0	0	0	12395	827	29	3	1004	3	PPP2R5A	1	212530010	Missense_Mutation	SNP	C	TCGA-24-1471-01A-01W-0551-08	60336653	212530010	36720611	2	13335											
ZP4	57829	broad.mit.edu	37	1	238051678	238051678	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr1:238051678G>A	ENST00000366570.4	-	4	691	c.533C>T	c.(532-534)tCc>tTc	p.S178F	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	178	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.S178F(1)|p.S178Y(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATAGTAGCAGGAATTCACCTC	0.507																																					NSCLC(166;160 2029 11600 18754 19936)											2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	1											129	109	116					1																	238051678		2203	4300	6503	236118301	SO:0001583	missense	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.533C>T	1.37:g.238051678G>A	ENSP00000355529:p.Ser178Phe		236118301	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	5.488	0.274966	0.10403	.	.	ENSG00000116996	ENST00000366570	T	0.55052	0.54	4.98	3.1	0.35709	P-type trefoil (5);	0.445538	0.23993	N	0.042554	T	0.37812	0.1017	L	0.37561	1.115	0.24876	N	0.992257	B	0.14805	0.011	B	0.23716	0.048	T	0.25916	-1.0118	10	0.09843	T	0.71	-10.9002	9.1251	0.36810	0.1792:0.0:0.8208:0.0	.	178	Q12836	ZP4_HUMAN	F	178	ENSP00000355529:S178F	ENSP00000355529:S178F	S	-	2	0	ZP4	236118301	0.993000	0.37304	0.762000	0.31397	0.144000	0.21451	2.701000	0.47094	0.493000	0.27837	0.655000	0.94253	TCC		0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			A	238051678	G	A	238051678	3	1	234	1	0	0	0	0	1	0	0	0	18218	1174	41	2	1125	2	ZP4	1	238051678	Missense_Mutation	SNP	G	TCGA-24-1471-01A-01W-0551-08	25521668	238051678	11198943	3	13336											
CPS1	1373	broad.mit.edu	37	2	211466935	211466935	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr2:211466935G>T	ENST00000233072.5	+	16	1913	c.1717G>T	c.(1717-1719)Gca>Tca	p.A573S	CPS1_ENST00000451903.2_Missense_Mutation_p.A122S|CPS1_ENST00000430249.2_Missense_Mutation_p.A579S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	573	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.A573S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GATTGAGGATGCACTGAAGGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											114	101	106					2																	211466935		2203	4300	6503	211175180	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1717G>T	2.37:g.211466935G>T	ENSP00000233072:p.Ala573Ser		211175180	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465686	0.63513	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97924	-4.61;-4.61;-4.61	5.63	5.63	0.86233	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.99158	0.9709	H	0.94385	3.53	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99097	1.0842	10	0.59425	D	0.04	-9.2259	19.6756	0.95930	0.0:0.0:1.0:0.0	.	583;573	Q59HF8;P31327	.;CPSM_HUMAN	S	579;581;573;122	ENSP00000402608:A579S;ENSP00000233072:A573S;ENSP00000406136:A122S	ENSP00000233072:A573S	A	+	1	0	CPS1	211175180	1.000000	0.71417	0.931000	0.37212	0.004000	0.04260	9.224000	0.95209	2.670000	0.90874	0.585000	0.79938	GCA		0.498	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			T	211466935	G	T	211466935	3	4	234	1	0	0	0	0	1	0	0	0	3823	1319	46	3	1801	3	CPS1	2	211466935	Missense_Mutation	SNP	G	TCGA-24-1471-01A-01W-0551-08		211466935	31732438	4	13337											
RAD18	56852	broad.mit.edu	37	3	9005025	9005025	+	Silent	SNP	G	G	A			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr3:9005025G>A	ENST00000264926.2	-	1	161	c.45C>T	c.(43-45)gtC>gtT	p.V15V	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	15					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)	p.V15V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TCACCTTCATGACTGCCAGGC	0.652								Rad6 pathway																																								1	Substitution - coding silent(1)	ovary(1)	3											23	23	23					3																	9005025		2202	4300	6502	8980025	SO:0001819	synonymous_variant	56852				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.45C>T	3.37:g.9005025G>A			8980025	Q58F55|Q9NRT6	Silent	SNP	ENST00000264926.2	37	CCDS2571.1																																																																																				0.652	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		A	9005025	G	A	9005025	2	1	234	1	0	0	0	0	0	0	0	1	12983	1277	45	2		2	RAD18	3	9005025	Silent	SNP	G	TCGA-24-1471-01A-01W-0551-08		9005025	189017405	5	13338											
ADCY5	111	broad.mit.edu	37	3	123166608	123166608	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr3:123166608G>A	ENST00000462833.1	-	1	1997	c.785C>T	c.(784-786)gCg>gTg	p.A262V		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	262					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.A262V(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGGGGGCCGCGCCGCGTGGAA	0.672																																																1	Substitution - Missense(1)	ovary(1)	3											25	27	26					3																	123166608		2201	4299	6500	124649298	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.785C>T	3.37:g.123166608G>A	ENSP00000419361:p.Ala262Val		124649298	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532745	0.27387	.	.	ENSG00000173175	ENST00000462833	T	0.76968	-1.06	4.91	2.14	0.27477	.	0.999708	0.08090	N	0.999437	T	0.54983	0.1892	N	0.04203	-0.255	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.28459	-1.0043	10	0.14656	T	0.56	.	8.8077	0.34948	0.4584:0.0:0.5416:0.0	.	262	O95622	ADCY5_HUMAN	V	262	ENSP00000419361:A262V	ENSP00000419361:A262V	A	-	2	0	ADCY5	124649298	0.002000	0.14202	0.993000	0.49108	0.923000	0.55619	0.180000	0.16860	0.153000	0.19213	-0.361000	0.07541	GCG		0.672	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		A	123166608	G	A	123166608	3	1	234	1	0	0	0	0	1	0	0	0	297	1087	38	1	3084	1	ADCY5	3	123166608	Missense_Mutation	SNP	G	TCGA-24-1471-01A-01W-0551-08	114161583	123166608	74855822	6	13339											
PCDHA4	56144	broad.mit.edu	37	5	140187629	140187629	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr5:140187629C>T	ENST00000530339.1	+	1	857	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S286L(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313																																																1	Substitution - Missense(1)	ovary(1)	5											64	69	67					5																	140187629		2203	4300	6503	140167813	SO:0001583	missense	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.857C>T	5.37:g.140187629C>T	ENSP00000435300:p.Ser286Leu		140167813	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	2.680	-0.275652	0.05679	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.64991	-0.13;-0.13;-0.13	4.34	2.27	0.28462	Cadherin (4);Cadherin-like (1);	1.146100	0.06905	N	0.806657	T	0.53674	0.1811	L	0.49513	1.565	0.09310	N	1	B;B;B	0.26318	0.012;0.04;0.146	B;B;B	0.23419	0.008;0.028;0.046	T	0.44267	-0.9339	10	0.40728	T	0.16	.	5.1496	0.15002	0.1626:0.6295:0.0:0.2079	.	286;286;286	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	286	ENSP00000423470:S286L;ENSP00000349344:S286L;ENSP00000435300:S286L	ENSP00000349344:S286L	S	+	2	0	PCDHA4	140167813	0.000000	0.05858	0.036000	0.18154	0.041000	0.13682	-0.105000	0.10907	0.748000	0.32831	0.467000	0.42956	TCG		0.313	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140187629	C	T	140187629	3	4	234	1	0	0	0	0	1	0	0	0	11526	893	31	1	859	1	PCDHA4	5	140187629	Missense_Mutation	SNP	C	TCGA-24-1471-01A-01W-0551-08		140187629	40727631	7	13340											
HIST1H1E	3008	broad.mit.edu	37	6	26156790	26156790	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr6:26156790T>C	ENST00000304218.3	+	1	232	c.172T>C	c.(172-174)Tct>Cct	p.S58P	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	58	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.S58P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAGCGGCGTATCTTTGGCCGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											29	33	31					6																	26156790		2203	4300	6503	26264769	SO:0001583	missense	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.172T>C	6.37:g.26156790T>C	ENSP00000307705:p.Ser58Pro		26264769	Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.943545	0.73672	.	.	ENSG00000168298	ENST00000304218	T	0.53423	0.62	5.11	5.11	0.69529	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88464	0.3057	10	0.87932	D	0	-4.3875	14.3666	0.66810	0.0:0.0:0.0:1.0	.	58	P10412	H14_HUMAN	P	58	ENSP00000307705:S58P	ENSP00000307705:S58P	S	+	1	0	HIST1H1E	26264769	1.000000	0.71417	0.594000	0.28785	0.645000	0.38454	7.930000	0.87610	2.055000	0.61198	0.459000	0.35465	TCT		0.617	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		C	26156790	T	C	26156790	3	2	234	1	0	0	0	0	1	0	0	0	7126	1435	50	4	174	4	HIST1H1E	6	26156790	Missense_Mutation	SNP	T	TCGA-24-1471-01A-01W-0551-08		26156790	144958277	8	13341											
CTTNBP2	83992	broad.mit.edu	37	7	117432608	117432608	+	Silent	SNP	G	G	A	rs138336454		TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr7:117432608G>A	ENST00000160373.3	-	4	733	c.642C>T	c.(640-642)tcC>tcT	p.S214S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	214					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.S214S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTTTCTCAGCGGAGAGTTCCT	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		20853	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	7						G		7,4399	12.9+/-30.5	0,7,2196	134	120	125		642	-11.5	0	7	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	CTTNBP2	NM_033427.2		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		214/1664	117432608	7,12999	2203	4300	6503	117219844	SO:0001819	synonymous_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.642C>T	7.37:g.117432608G>A			117219844	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1																																																																																				0.478	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		A	117432608	G	A	117432608	2	1	234	1	0	0	0	0	0	0	0	1	4045	1103	39	1		1	CTTNBP2	7	117432608	Silent	SNP	G	TCGA-24-1471-01A-01W-0551-08		117432608	41706055	9	13342											
PEBP4	157310	broad.mit.edu	37	8	22675215	22675215	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr8:22675215C>T	ENST00000256404.6	-	4	383	c.292G>A	c.(292-294)Gat>Aat	p.D98N	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	98						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)		p.D98N(1)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CTAGGGGCATCTGGATCCACC	0.498																																																1	Substitution - Missense(1)	ovary(1)	8											133	131	132					8																	22675215		1964	4162	6126	22731160	SO:0001583	missense	157310			BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.292G>A	8.37:g.22675215C>T	ENSP00000256404:p.Asp98Asn		22731160	Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	37	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369196	0.82463	.	.	ENSG00000134020	ENST00000256404	T	0.76578	-1.03	5.09	5.09	0.68999	Phosphatidylethanolamine-binding, conserved site (1);	0.148471	0.41938	N	0.000781	D	0.92437	0.7599	H	0.97896	4.1	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.95010	0.8151	10	0.87932	D	0	-29.9237	15.2431	0.73485	0.0:1.0:0.0:0.0	.	98	Q96S96	PEBP4_HUMAN	N	98	ENSP00000256404:D98N	ENSP00000256404:D98N	D	-	1	0	PEBP4	22731160	0.990000	0.36364	0.987000	0.45799	0.800000	0.45204	4.511000	0.60462	2.374000	0.81015	0.655000	0.94253	GAT		0.498	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		T	22675215	C	T	22675215	3	4	234	1	0	0	0	0	1	0	0	0	11714	913	32	2	407	2	PEBP4	8	22675215	Missense_Mutation	SNP	C	TCGA-24-1471-01A-01W-0551-08		22675215	123688807	10	13343											
ABCA1	19	broad.mit.edu	37	9	107594970	107594970	+	Missense_Mutation	SNP	G	G	A	rs551313050		TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr9:107594970G>A	ENST00000374736.3	-	12	1788	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	465					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.A465V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGCCAAAAACGCCACGATGTC	0.507													G|||	1	0.000199681	0	0	5008	,	,		19370	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9											208	169	182					9																	107594970		2203	4300	6503	106634791	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1394C>T	9.37:g.107594970G>A	ENSP00000363868:p.Ala465Val		106634791	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429258	0.25726	.	.	ENSG00000165029	ENST00000374736	D	0.85258	-1.96	5.82	3.97	0.46021	.	0.955747	0.08799	N	0.892034	T	0.77226	0.4099	L	0.29908	0.895	0.09310	N	1	B	0.20887	0.049	B	0.12156	0.007	T	0.64019	-0.6505	10	0.45353	T	0.12	.	7.6705	0.28455	0.1469:0.3916:0.4615:0.0	.	465	O95477	ABCA1_HUMAN	V	465	ENSP00000363868:A465V	ENSP00000363868:A465V	A	-	2	0	ABCA1	106634791	0.000000	0.05858	0.005000	0.12908	0.965000	0.64279	-0.136000	0.10405	0.783000	0.33636	0.563000	0.77884	GCG		0.507	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		A	107594970	G	A	107594970	3	1	234	1	0	0	0	0	1	0	0	0	28	1087	38	1	5547	1	ABCA1	9	107594970	Missense_Mutation	SNP	G	TCGA-24-1471-01A-01W-0551-08		107594970	33618461	11	13344											
NKX2-3	159296	broad.mit.edu	37	10	101292917	101292917	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr10:101292917C>T	ENST00000344586.7	+	1	228	c.29C>T	c.(28-30)aCc>aTc	p.T10I	RP11-129J12.2_ENST00000548010.1_RNA	NM_145285.2	NP_660328.2	Q8TAU0	NKX23_HUMAN	NK2 homeobox 3	10					CD4-positive, alpha-beta T cell differentiation (GO:0043367)|gland morphogenesis (GO:0022612)|leukocyte homeostasis (GO:0001776)|leukocyte migration (GO:0050900)|lymph node development (GO:0048535)|macrophage differentiation (GO:0030225)|odontogenesis of dentin-containing tooth (GO:0042475)|Peyer's patch development (GO:0048541)|plasma cell differentiation (GO:0002317)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic digestive tract morphogenesis (GO:0048621)|regulation of cell proliferation (GO:0042127)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)|triglyceride metabolic process (GO:0006641)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T10I(1)		endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		GTCACCTCCACCCCTTTCTCA	0.582																																					Pancreas(173;2021 2035 19403 19989 27291)											1	Substitution - Missense(1)	ovary(1)	10											65	75	72					10																	101292917		1986	4151	6137	101282907	SO:0001583	missense	159296				CCDS41558.1	10q24.2	2013-09-20	2011-06-01	2002-10-04	ENSG00000119919	ENSG00000119919		"Homeoboxes / ANTP class : NKL subclass"	7836	protein-coding gene	gene with protein product		606727	"NK-2 (Drosophila) homolog C", "NK2 transcription factor related, locus 3 (Drosophila)"	NKX2C		1346742, 9142493	Standard	NM_145285		Approved	NKX2.3, CSX3, NKX4-3	uc009xwj.3	Q8TAU0	OTTHUMG00000018887	ENST00000344586.7:c.29C>T	10.37:g.101292917C>T	ENSP00000342828:p.Thr10Ile		101282907	B4DUZ4|Q9NYS6	Missense_Mutation	SNP	ENST00000344586.7	37	CCDS41558.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610389	0.87258	.	.	ENSG00000119919	ENST00000344586	T	0.52295	0.67	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74665	-0.3589	10	0.87932	D	0	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	10	Q8TAU0	NKX23_HUMAN	I	10	ENSP00000342828:T10I	ENSP00000342828:T10I	T	+	2	0	NKX2-3	101282907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.286000	0.78671	2.600000	0.87896	0.655000	0.94253	ACC		0.582	NKX2-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049808.2			T	101292917	C	T	101292917	3	4	234	1	0	0	0	0	1	0	0	0	10451	507	18	2	31	2	NKX2-3	10	101292917	Missense_Mutation	SNP	C	TCGA-24-1471-01A-01W-0551-08		101292917	34241830	12	13345											
OR51F1	256892	broad.mit.edu	37	11	4790481	4790481	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr11:4790481T>C	ENST00000380383.1	-	1	687	c.688A>G	c.(688-690)Att>Gtt	p.I230V	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.I223V|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I223V(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGTGAATAATTAAGATATAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	11											127	125	126					11																	4790481		2201	4298	6499	4747057	SO:0001583	missense	256892			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.688A>G	11.37:g.4790481T>C	ENSP00000369744:p.Ile230Val		4747057		Missense_Mutation	SNP	ENST00000380383.1	37		.	.	.	.	.	.	.	.	.	.	T	17.75	3.465182	0.63513	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00374	7.72;7.72	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.01489	0.0048	M	0.93507	3.425	0.37886	D	0.930549	D	0.71674	0.998	D	0.87578	0.998	T	0.42413	-0.9453	10	0.87932	D	0	.	14.0937	0.65006	0.0:0.0:0.0:1.0	.	230	A6NGY5	O51F1_HUMAN	V	223;230	ENSP00000345163:I223V;ENSP00000369744:I230V	ENSP00000345163:I223V	I	-	1	0	OR51F1	4747057	1.000000	0.71417	0.112000	0.21494	0.781000	0.44180	7.215000	0.77966	2.202000	0.70862	0.533000	0.62120	ATT		0.443	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		C	4790481	T	C	4790481	3	2	234	1	0	0	0	0	1	0	0	0	11096	1493	52	4	274	4	OR51F1	11	4790481	Missense_Mutation	SNP	T	TCGA-24-1471-01A-01W-0551-08		4790481	130216035	13	13346											
OR8H3	390152	broad.mit.edu	37	11	55890337	55890337	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr11:55890337G>A	ENST00000313472.3	+	1	489	c.489G>A	c.(487-489)atG>atA	p.M163I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M163I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGTTTCCATGAGCAGATTGC	0.428																																																1	Substitution - Missense(1)	ovary(1)	11											239	213	222					11																	55890337		2201	4296	6497	55646913	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.489G>A	11.37:g.55890337G>A	ENSP00000323928:p.Met163Ile		55646913	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.269145	0.00259	.	.	ENSG00000181761	ENST00000313472	T	0.00069	8.77	3.62	0.159	0.14968	GPCR, rhodopsin-like superfamily (1);	0.090906	0.49305	D	0.000150	T	0.00039	0.0001	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.20384	0.029	T	0.20605	-1.0270	10	0.30854	T	0.27	.	1.7478	0.02966	0.254:0.14:0.463:0.143	.	163	Q8N146	OR8H3_HUMAN	I	163	ENSP00000323928:M163I	ENSP00000323928:M163I	M	+	3	0	OR8H3	55646913	0.000000	0.05858	0.012000	0.15200	0.077000	0.17291	-3.932000	0.00331	0.153000	0.19213	-1.289000	0.01358	ATG		0.428	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		A	55890337	G	A	55890337	3	1	234	1	0	0	0	0	1	0	0	0	11239	1290	45	2	491	2	OR8H3	11	55890337	Missense_Mutation	SNP	G	TCGA-24-1471-01A-01W-0551-08	51099856	55890337	79116179	14	13347											
OR5AK2	390181	broad.mit.edu	37	11	56756787	56756787	+	Silent	SNP	T	T	C	rs373245457		TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr11:56756787T>C	ENST00000326855.2	+	1	441	c.399T>C	c.(397-399)acT>acC	p.T133T		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T133T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTCACTATACTGTAATCATGT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	11						T		0,4402		0,0,2201	171	142	152		399	-1.2	0	11		152	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR5AK2	NM_001005323.1		0,1,6496	CC,CT,TT		0.0116,0.0,0.0077		133/310	56756787	1,12993	2201	4296	6497	56513363	SO:0001819	synonymous_variant	390181			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.399T>C	11.37:g.56756787T>C			56513363	B2RNZ9	Silent	SNP	ENST00000326855.2	37	CCDS31538.1																																																																																				0.423	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		C	56756787	T	C	56756787	2	2	234	1	0	0	0	0	0	0	0	1	11142	1567	55	4		4	OR5AK2	11	56756787	Silent	SNP	T	TCGA-24-1471-01A-01W-0551-08	866450	56756787	78249729	15	13348											
ANO2	57101	broad.mit.edu	37	12	5685069	5685069	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr12:5685069T>C	ENST00000356134.5	-	25	2626	c.2555A>G	c.(2554-2556)aAc>aGc	p.N852S	ANO2_ENST00000327087.8_Missense_Mutation_p.N851S|ANO2_ENST00000546188.1_Missense_Mutation_p.N852S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	856					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.N852S(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGCTGACGTTGAAAAAGGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											67	69	68					12																	5685069		1944	4150	6094	5555330	SO:0001583	missense	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2555A>G	12.37:g.5685069T>C	ENSP00000348453:p.Asn852Ser		5555330	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	T	22.5	4.300791	0.81136	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.68624	-0.34;-0.33;-0.33	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	M	0.78049	2.395	0.58432	D	0.999999	D	0.69078	0.997	D	0.70935	0.971	T	0.82170	-0.0590	10	0.48119	T	0.1	.	14.6997	0.69147	0.0:0.0:0.0:1.0	.	851	Q9NQ90-3	.	S	851;852;852;856	ENSP00000314048:N851S;ENSP00000348453:N852S;ENSP00000440981:N852S	ENSP00000314048:N851S	N	-	2	0	ANO2	5555330	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.997000	0.88414	2.119000	0.64992	0.528000	0.53228	AAC		0.532	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		C	5685069	T	C	5685069	3	2	234	1	0	0	0	0	1	0	0	0	697	1725	60	4	456	4	ANO2	12	5685069	Missense_Mutation	SNP	T	TCGA-24-1471-01A-01W-0551-08		5685069	128166826	16	13349											
ESYT1	23344	broad.mit.edu	37	12	56532265	56532265	+	Silent	SNP	G	G	A			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr12:56532265G>A	ENST00000394048.5	+	22	2679	c.2415G>A	c.(2413-2415)gaG>gaA	p.E805E	ESYT1_ENST00000267113.4_Silent_p.E815E|ESYT1_ENST00000541590.1_Silent_p.E815E|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	805	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.E805E(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCTATATGGAGCGGGCAGAGG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	12											29	31	30					12																	56532265		2203	4300	6503	54818532	SO:0001819	synonymous_variant	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2415G>A	12.37:g.56532265G>A			54818532	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	CCDS8904.1																																																																																				0.592	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		A	56532265	G	A	56532265	2	1	234	1	0	0	0	0	0	0	0	1	5264	962	34	2		2	ESYT1	12	56532265	Silent	SNP	G	TCGA-24-1471-01A-01W-0551-08	50847196	56532265	77319630	17	13350											
TBC1D4	9882	broad.mit.edu	37	13	75886898	75886898	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr13:75886898A>C	ENST00000377636.3	-	13	2705	c.2359T>G	c.(2359-2361)Tct>Gct	p.S787A	TBC1D4_ENST00000431480.2_Missense_Mutation_p.S779A|TBC1D4_ENST00000425511.1_Missense_Mutation_p.S4A|TBC1D4_ENST00000377625.2_Missense_Mutation_p.S724A	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	787					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.S787A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCTGAGGGAGATTTGTTCATG	0.507																																																1	Substitution - Missense(1)	ovary(1)	13											84	86	85					13																	75886898		1947	4149	6096	74784899	SO:0001583	missense	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2359T>G	13.37:g.75886898A>C	ENSP00000366863:p.Ser787Ala		74784899	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735592	0.69189	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511;ENST00000413735	T;T;T;T;T	0.47528	0.84;0.84;0.84;3.61;0.84	5.53	5.53	0.82687	.	0.078542	0.53938	D	0.000044	T	0.40448	0.1117	L	0.38175	1.15	0.43793	D	0.996333	B;B;P	0.46578	0.203;0.203;0.88	B;B;B	0.42995	0.064;0.143;0.404	T	0.16217	-1.0410	10	0.15066	T	0.55	-13.7368	15.9669	0.79979	1.0:0.0:0.0:0.0	.	724;779;787	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	A	787;779;724;4;236	ENSP00000366863:S787A;ENSP00000395986:S779A;ENSP00000366852:S724A;ENSP00000390654:S4A;ENSP00000396932:S236A	ENSP00000366852:S724A	S	-	1	0	TBC1D4	74784899	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.203000	0.58453	2.236000	0.73375	0.533000	0.62120	TCT		0.507	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		C	75886898	A	C	75886898	3	2	234	1	0	0	0	0	1	0	0	0	15622	333	12	5	1573	5	TBC1D4	13	75886898	Missense_Mutation	SNP	A	TCGA-24-1471-01A-01W-0551-08		75886898	39282980	18	13351											
TRPM1	4308	broad.mit.edu	37	15	31330344	31330344	+	Missense_Mutation	SNP	G	G	A	rs566390005		TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr15:31330344G>A	ENST00000256552.6	-	19	2489	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.P759L|TRPM1_ENST00000542188.1_Missense_Mutation_p.P798L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.P759L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAAGATGGTGGGGGGTAGAAG	0.353																																																1	Substitution - Missense(1)	ovary(1)	15											74	68	70					15																	31330344		1829	4083	5912	29117636	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2342C>T	15.37:g.31330344G>A	ENSP00000256552:p.Pro781Leu		29117636		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665942	0.67700	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.75477	-0.94;-0.94;-0.94	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	L	0.56340	1.77	0.80722	D	1	D;D	0.64830	0.994;0.974	P;P	0.57846	0.828;0.78	D	0.83637	0.0148	10	0.87932	D	0	-27.2573	19.3842	0.94550	0.0:0.0:1.0:0.0	.	753;759	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	L	759;798;781;759	ENSP00000380897:P759L;ENSP00000437849:P798L;ENSP00000256552:P781L	ENSP00000256552:P781L	P	-	2	0	TRPM1	29117636	1.000000	0.71417	0.372000	0.25991	0.420000	0.31355	9.332000	0.96446	2.644000	0.89710	0.655000	0.94253	CCC		0.353	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		A	31330344	G	A	31330344	3	1	234	1	0	0	0	0	1	0	0	0	16585	1232	43	2	2575	2	TRPM1	15	31330344	Missense_Mutation	SNP	G	TCGA-24-1471-01A-01W-0551-08		31330344	71201048	19	13352											
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr17:7577127C>A	ENST00000269305.4	-	8	1000	c.811G>T	c.(811-813)Gag>Tag	p.E271*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E271*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E271*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E271*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E271*	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	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)	ACACGCACCTCAAAGCTGTTC	0.537		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"	74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	17											58	51	54					17																	7577127		2203	4300	6503	7517852	SO:0001587	stop_gained	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.811G>T	17.37:g.7577127C>A	ENSP00000269305:p.Glu271*		7517852	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	37	6.547962	0.97654	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	.	.	.	X	271;271;271;271;271;260;139	.	ENSP00000269305:E271X	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577127	C	A	7577127	4	1	234	1	0	0	0	0	0	1	0	0	16381	835	29	3	475	3	TP53	17	7577127	Nonsense_Mutation	SNP	C	TCGA-24-1471-01A-01W-0551-08		7577127	73618083	20	13353											
ICAM1	3383	broad.mit.edu	37	19	10395085	10395085	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr19:10395085C>T	ENST00000264832.3	+	5	1257	c.932C>T	c.(931-933)cCg>cTg	p.P311L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	311					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.P311L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCAGGCTTTCCGGCGCCCAAC	0.612																																																1	Substitution - Missense(1)	ovary(1)	19																																								10256085	SO:0001583	missense	3383				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.932C>T	19.37:g.10395085C>T	ENSP00000264832:p.Pro311Leu		10256085	B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645558	0.29246	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.16743	2.32;2.32	4.1	0.43	0.16515	Immunoglobulin-like fold (1);	0.337248	0.21388	N	0.075359	T	0.27098	0.0664	L	0.58428	1.81	0.09310	N	0.999999	D;P	0.89917	1.0;0.777	D;B	0.77557	0.99;0.141	T	0.13683	-1.0500	10	0.21540	T	0.41	-13.2516	4.4224	0.11486	0.3955:0.4935:0.0:0.111	.	89;311	E7ESS4;P05362	.;ICAM1_HUMAN	L	311;89	ENSP00000264832:P311L;ENSP00000413124:P89L	ENSP00000264832:P311L	P	+	2	0	ICAM1	10256085	0.209000	0.23505	0.025000	0.17156	0.014000	0.08584	0.929000	0.28844	0.079000	0.16929	0.407000	0.27541	CCG		0.612	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			T	10395085	C	T	10395085	3	4	234	1	0	0	0	0	1	0	0	0	7479	652	23	1	950	1	ICAM1	19	10395085	Missense_Mutation	SNP	C	TCGA-24-1471-01A-01W-0551-08		10395085	48733898	21	13354											
ISX	91464	broad.mit.edu	37	22	35463246	35463246	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr22:35463246G>T	ENST00000308700.6	+	1	1118	c.166G>T	c.(166-168)Ggc>Tgc	p.G56C	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Missense_Mutation_p.G56C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	56					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G56C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						AGGTGAAGAGGGCCCCGGAGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	22											32	35	34					22																	35463246		2202	4300	6502	33793246	SO:0001583	missense	91464			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.166G>T	22.37:g.35463246G>T	ENSP00000311492:p.Gly56Cys		33793246	Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744446	0.49151	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.91237	-2.81;-2.81	5.13	1.9	0.25705	.	1.263520	0.05582	N	0.573147	D	0.88826	0.6542	L	0.27053	0.805	0.09310	N	1	D	0.58620	0.983	P	0.52710	0.707	T	0.77574	-0.2537	10	0.66056	D	0.02	.	7.0722	0.25185	0.2859:0.0:0.7141:0.0	.	56	Q2M1V0	ISX_HUMAN	C	56	ENSP00000311492:G56C;ENSP00000386037:G56C	ENSP00000311492:G56C	G	+	1	0	ISX	33793246	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.498000	0.22530	0.198000	0.20407	-0.140000	0.14226	GGC		0.572	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		T	35463246	G	T	35463246	3	4	234	1	0	0	0	0	1	0	0	0	7865	1232	43	3	168	3	ISX	22	35463246	Missense_Mutation	SNP	G	TCGA-24-1471-01A-01W-0551-08		35463246	15841320	22	13355											
EP300	2033	broad.mit.edu	37	22	41564512	41564512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1471-01A-01W-0551-08	TCGA-24-1471-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	48fe7034-e4fb-4a68-a396-98b72cc6fd95	8bb1840a-decd-4e13-a342-0a3a040412bc	g.chr22:41564512C>T	ENST00000263253.7	+	24	5153	c.3934C>T	c.(3934-3936)Cga>Tga	p.R1312*	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1312	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.R1312*(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTTTCTGAGGCGACAGAATCA	0.428			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Substitution - Nonsense(1)	ovary(1)	22											121	113	116					22																	41564512		2203	4300	6503	39894458	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3934C>T	22.37:g.41564512C>T	ENSP00000263253:p.Arg1312*		39894458	B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	51	18.252331	0.99902	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.75	3.52	0.40303	.	0.000000	0.40818	N	0.001006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3062	13.8573	0.63537	0.4746:0.5254:0.0:0.0	.	.	.	.	X	1312	.	ENSP00000263253:R1312X	R	+	1	2	EP300	39894458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.771000	0.26633	1.397000	0.46682	0.557000	0.71058	CGA		0.428	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		T	41564512	C	T	41564512	4	4	234	1	0	0	0	0	0	1	0	0	5148	760	27	1	4028	1	EP300	22	41564512	Nonsense_Mutation	SNP	C	TCGA-24-1471-01A-01W-0551-08	6101266	41564512	9740054	23	13356											
FBXO44	93611	broad.mit.edu	37	1	11718362	11718362	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr1:11718362G>A	ENST00000251547.5	+	3	386	c.304G>A	c.(304-306)Gat>Aat	p.D102N	FBXO44_ENST00000376762.4_Missense_Mutation_p.D102N|FBXO44_ENST00000376770.1_Missense_Mutation_p.D102N|FBXO44_ENST00000376760.1_Missense_Mutation_p.D102N|FBXO44_ENST00000251546.4_Missense_Mutation_p.D102N|FBXO44_ENST00000376768.1_Missense_Mutation_p.D102N	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	102	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)		p.D102N(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGGAGGCGATGAGTGGAA	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											124	129	127					1																	11718362		2203	4300	6503	11640949	SO:0001583	missense	93611			AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"F-boxes /  "other""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.304G>A	1.37:g.11718362G>A	ENSP00000251547:p.Asp102Asn		11640949	B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	CCDS132.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429765	0.62844	.	.	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376770;ENST00000376768;ENST00000251547;ENST00000376762;ENST00000376760	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.11	5.11	0.69529	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	L	0.61036	1.89	0.40104	D	0.976405	P;B;P	0.46457	0.878;0.106;0.851	P;B;B	0.46026	0.501;0.033;0.281	T	0.53063	-0.8491	10	0.45353	T	0.12	-0.2591	17.5308	0.87814	0.0:0.0:1.0:0.0	.	102;102;102	B7Z1P2;Q9H4M3;Q9H4M3-2	.;FBX44_HUMAN;.	N	102	ENSP00000251546:D102N;ENSP00000389820:D102N;ENSP00000365961:D102N;ENSP00000365959:D102N;ENSP00000251547:D102N;ENSP00000365953:D102N;ENSP00000365951:D102N	ENSP00000251546:D102N	D	+	1	0	FBXO44	11640949	1.000000	0.71417	0.818000	0.32626	0.920000	0.55202	6.285000	0.72658	2.384000	0.81235	0.511000	0.50034	GAT		0.512	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		A	11718362	G	A	11718362	3	1	235	1	0	0	0	0	1	0	0	0	5753	1058	37	1	310	1	FBXO44	1	11718362	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08		11718362	237532259	1	13357											
VPS13D	55187	broad.mit.edu	37	1	12333152	12333152	+	Silent	SNP	T	T	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr1:12333152T>A	ENST00000358136.3	+	18	2326	c.2196T>A	c.(2194-2196)gtT>gtA	p.V732V	VPS13D_ENST00000356315.4_Silent_p.V732V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.V732V(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTGTGTTAGTTGTCGTGGATC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	1											159	153	155					1																	12333152		2203	4300	6503	12255739	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2196T>A	1.37:g.12333152T>A			12255739		Silent	SNP	ENST00000358136.3	37	CCDS30588.1																																																																																				0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		A	12333152	T	A	12333152	2	1	235	1	0	0	0	0	0	0	0	1	17192	1799	63	5		5	VPS13D	1	12333152	Silent	SNP	T	TCGA-24-1474-01A-01W-0551-08	614790	12333152	236917469	2	13358											
CACHD1	57685	broad.mit.edu	37	1	65146957	65146957	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr1:65146957G>A	ENST00000371073.2	+	25	3423	c.3423G>A	c.(3421-3423)atG>atA	p.M1141I	CACHD1_ENST00000290039.5_Missense_Mutation_p.M1090I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1141					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.M1090I(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAGTGCGTATGTCCAACCTGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											175	164	168					1																	65146957		2203	4300	6503	64919545	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3423G>A	1.37:g.65146957G>A	ENSP00000360113:p.Met1141Ile		64919545	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	G	29.2	4.981930	0.93044	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.27256	1.68;1.7	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.25865	0.0630	L	0.42245	1.32	0.80722	D	1	P	0.35872	0.525	P	0.45428	0.48	T	0.03981	-1.0987	10	0.72032	D	0.01	-33.6985	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1141	Q5VU97	CAHD1_HUMAN	I	1141;1090	ENSP00000360113:M1141I;ENSP00000290039:M1090I	ENSP00000290039:M1090I	M	+	3	0	CACHD1	64919545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.724000	0.93272	0.563000	0.77884	ATG		0.443	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		A	65146957	G	A	65146957	3	1	235	1	0	0	0	0	1	0	0	0	2537	1377	48	2	3368	2	CACHD1	1	65146957	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08	52813805	65146957	184103664	3	13359											
SESTD1	91404	broad.mit.edu	37	2	180008450	180008450	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr2:180008450C>T	ENST00000428443.3	-	9	1034	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	240							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.E240K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCAAGAAGTTCATCATCCATA	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											139	137	138					2																	180008450		2203	4300	6503	179716695	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.718G>A	2.37:g.180008450C>T	ENSP00000415332:p.Glu240Lys		179716695	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887116	0.91814	.	.	ENSG00000187231	ENST00000428443	T	0.05025	3.51	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	N	0.14661	0.345	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.34650	-0.9820	9	.	.	.	-26.5967	20.6593	0.99626	0.0:1.0:0.0:0.0	.	240	Q86VW0	SESD1_HUMAN	K	240	ENSP00000415332:E240K	.	E	-	1	0	SESTD1	179716695	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAA		0.438	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		T	180008450	C	T	180008450	3	4	235	1	0	0	0	0	1	0	0	0	14130	835	29	2	1412	2	SESTD1	2	180008450	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08		180008450	63190923	4	13360											
MAP2	4133	broad.mit.edu	37	2	210574938	210574938	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr2:210574938G>C	ENST00000360351.4	+	12	5539	c.5033G>C	c.(5032-5034)gGa>gCa	p.G1678A	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.G1674A|MAP2_ENST00000392194.1_Missense_Mutation_p.G322A|MAP2_ENST00000361559.4_Missense_Mutation_p.G322A|MAP2_ENST00000199940.6_Missense_Mutation_p.G379A	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1678					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.G1678A(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCCAAAATCGGATCAACAGAC	0.433																																					Pancreas(27;423 979 28787 29963)											1	Substitution - Missense(1)	ovary(1)	2											61	52	55					2																	210574938		2202	4300	6502	210283183	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5033G>C	2.37:g.210574938G>C	ENSP00000353508:p.Gly1678Ala		210283183	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270566	0.80469	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55	5.6	5.6	0.85130	.	0.229146	0.30732	N	0.008982	D	0.99889	0.9947	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.96;0.998;1.0;1.0	D	0.96605	0.9448	10	0.62326	D	0.03	-22.0739	19.6088	0.95594	0.0:0.0:1.0:0.0	.	1674;322;323;1678;379	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	A	379;1678;322;322;1674	ENSP00000199940:G379A;ENSP00000353508:G1678A;ENSP00000355290:G322A;ENSP00000376032:G322A;ENSP00000392164:G1674A	ENSP00000199940:G379A	G	+	2	0	MAP2	210283183	1.000000	0.71417	0.936000	0.37596	0.528000	0.34623	9.813000	0.99286	2.636000	0.89361	0.467000	0.42956	GGA		0.433	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		C	210574938	G	C	210574938	3	2	235	1	0	0	0	0	1	0	0	0	9235	1174	41	3	5242	3	MAP2	2	210574938	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08	30566488	210574938	32624435	5	13361											
SLC4A7	9497	broad.mit.edu	37	3	27472842	27472842	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr3:27472842G>T	ENST00000295736.5	-	7	1140	c.1070C>A	c.(1069-1071)gCa>gAa	p.A357E	SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000440156.1_Missense_Mutation_p.A353E|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000446700.1_Missense_Mutation_p.A349E|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Missense_Mutation_p.A349E|SLC4A7_ENST00000454389.1_Missense_Mutation_p.A366E|SLC4A7_ENST00000445684.1_Missense_Mutation_p.A353E	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	357					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.A357E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TTTCAGCGCTGCTTCTAAGTC	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											120	124	123					3																	27472842		2203	4300	6503	27447846	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1070C>A	3.37:g.27472842G>T	ENSP00000295736:p.Ala357Glu		27447846	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984439	0.35036	.	.	ENSG00000033867	ENST00000295736;ENST00000454389;ENST00000440156;ENST00000446700;ENST00000445684;ENST00000425128	T;T;T;T;T;T	0.78003	-1.07;-1.06;-1.13;-1.14;-1.14;0.38	5.83	4.0	0.46444	Bicarbonate transporter, cytoplasmic (1);	0.565200	0.17690	N	0.165283	T	0.50616	0.1626	N	0.00337	-1.62	0.25983	N	0.98235	P;P;D;B;P	0.59767	0.956;0.956;0.986;0.213;0.956	P;P;P;B;P	0.58970	0.849;0.849;0.449;0.18;0.849	T	0.57130	-0.7864	10	0.02654	T	1	.	5.4972	0.16809	0.2227:0.0:0.6318:0.1455	.	353;349;353;366;357	E9PFN4;E9PGC1;B5M453;E9PDL9;Q9Y6M7	.;.;.;.;S4A7_HUMAN	E	357;366;353;349;353;349	ENSP00000295736:A357E;ENSP00000390394:A366E;ENSP00000414797:A353E;ENSP00000406605:A349E;ENSP00000406804:A353E;ENSP00000401949:A349E	ENSP00000295736:A357E	A	-	2	0	SLC4A7	27447846	0.988000	0.35896	0.653000	0.29593	0.988000	0.76386	2.162000	0.42367	0.774000	0.33427	0.591000	0.81541	GCA		0.493	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		T	27472842	G	T	27472842	3	4	235	1	0	0	0	0	1	0	0	0	14661	1319	46	3	2650	3	SLC4A7	3	27472842	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08		27472842	170549588	6	13362											
SLC9A10	285335	broad.mit.edu	37	3	111997686	111997686	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr3:111997686C>T	ENST00000305815.5	-	4	460	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	SLC9C1_ENST00000487372.1_Missense_Mutation_p.A70T|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	70					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.A70T(1)									CATTGTATGGCGTTTGCGTAT	0.323																																																1	Substitution - Missense(1)	ovary(1)	3											107	116	113					3																	111997686		2202	4299	6501	113480376	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.208G>A	3.37:g.111997686C>T	ENSP00000306627:p.Ala70Thr		113480376	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	2.211	-0.380802	0.05000	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.14144	2.53;2.53	5.14	0.675	0.17952	Cation/H+ exchanger (1);	0.543878	0.16979	N	0.191781	T	0.06188	0.0160	L	0.38531	1.155	0.09310	N	1	B;P	0.43578	0.265;0.811	B;B	0.31614	0.041;0.133	T	0.33085	-0.9882	10	0.15499	T	0.54	-18.7727	3.6891	0.08339	0.0:0.4683:0.1849:0.3469	.	70;70	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	T	70	ENSP00000306627:A70T;ENSP00000420688:A70T	ENSP00000306627:A70T	A	-	1	0	SLC9A10	113480376	0.000000	0.05858	0.188000	0.23233	0.000000	0.00434	-1.012000	0.03649	0.266000	0.21894	-0.892000	0.02923	GCC		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		T	111997686	C	T	111997686	3	4	235	1	0	0	0	0	1	0	0	0	14713	768	27	1	3429	1	SLC9A10	3	111997686	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	84524844	111997686	86024744	7	13363											
RTP1	132112	broad.mit.edu	37	3	186917725	186917725	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr3:186917725C>T	ENST00000312295.4	+	2	689	c.659C>T	c.(658-660)gCg>gTg	p.A220V	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	220					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.A220V(2)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TTCTCCCGGGCGCCCAGCCCC	0.647																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	3											49	47	48					3																	186917725		2203	4300	6503	188400419	SO:0001583	missense	132112			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.659C>T	3.37:g.186917725C>T	ENSP00000311712:p.Ala220Val		188400419		Missense_Mutation	SNP	ENST00000312295.4	37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838673	0.51057	.	.	ENSG00000175077	ENST00000312295	T	0.16743	2.32	5.74	4.87	0.63330	.	0.160521	0.41823	D	0.000813	T	0.10809	0.0264	L	0.29908	0.895	0.24462	N	0.994432	P	0.45078	0.85	B	0.33392	0.163	T	0.16188	-1.0411	10	0.54805	T	0.06	.	10.5722	0.45206	0.0:0.9117:0.0:0.0883	.	220	P59025	RTP1_HUMAN	V	220	ENSP00000311712:A220V	ENSP00000311712:A220V	A	+	2	0	RTP1	188400419	0.742000	0.28228	0.914000	0.36105	0.847000	0.48162	1.078000	0.30754	1.440000	0.47531	0.655000	0.94253	GCG		0.647	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		T	186917725	C	T	186917725	3	4	235	1	0	0	0	0	1	0	0	0	13736	768	27	1	665	1	RTP1	3	186917725	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	74920039	186917725	11104705	8	13364											
ADH1B	125	broad.mit.edu	37	4	100235225	100235225	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr4:100235225G>A	ENST00000305046.8	-	6	648	c.581C>T	c.(580-582)tCt>tTt	p.S194F	ADH1B_ENST00000394887.3_Missense_Mutation_p.S154F			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	194					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.S194F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGCACAGGTAGAGCCTGGGGT	0.473																																																1	Substitution - Missense(1)	ovary(1)	4											110	118	115					4																	100235225		2203	4300	6503	100454248	SO:0001583	missense	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.581C>T	4.37:g.100235225G>A	ENSP00000306606:p.Ser194Phe		100454248	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708184	0.48412	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.33654	1.4;1.4	3.81	3.81	0.43845	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86944	0.2081	10	0.87932	D	0	-12.0051	15.683	0.77388	0.0:0.0:1.0:0.0	.	181;154;194	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	F	194;154;181	ENSP00000306606:S194F;ENSP00000378351:S154F	ENSP00000306606:S194F	S	-	2	0	ADH1B	100454248	1.000000	0.71417	0.977000	0.42913	0.041000	0.13682	8.934000	0.92915	1.641000	0.50575	0.561000	0.74099	TCT		0.473	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		A	100235225	G	A	100235225	3	1	235	1	0	0	0	0	1	0	0	0	308	942	33	2	562	2	ADH1B	4	100235225	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08		100235225	90919051	9	13365											
ODZ2	57451	broad.mit.edu	37	5	167517659	167517659	+	Silent	SNP	C	C	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr5:167517659C>A	ENST00000518659.1	+	8	1635	c.1596C>A	c.(1594-1596)acC>acA	p.T532T	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Silent_p.T365T|TENM2_ENST00000520394.1_Silent_p.T300T|TENM2_ENST00000545108.1_Silent_p.T532T|TENM2_ENST00000519204.1_Silent_p.T411T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	532					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.T365T(1)									GCATACAGACCTTGGTTCAGA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	5											230	233	232					5																	167517659		2079	4213	6292	167450237	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1596C>A	5.37:g.167517659C>A			167450237	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																					0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167517659	C	A	167517659	2	1	235	1	0	0	0	0	0	0	0	1	10835	668	24	3		3	ODZ2	5	167517659	Silent	SNP	C	TCGA-24-1474-01A-01W-0551-08		167517659	13397601	10	13366											
SLC17A2	10246	broad.mit.edu	37	6	25916965	25916965	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr6:25916965A>C	ENST00000265425.3	-	7	898	c.878T>G	c.(877-879)cTa>cGa	p.L293R	SLC17A2_ENST00000360488.3_Missense_Mutation_p.L293R|SLC17A2_ENST00000377850.3_Missense_Mutation_p.L293R			O00624	NPT3_HUMAN	solute carrier family 17, member 2	293					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.L293R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TAGGTATGTTAGGATGATGGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	6											135	118	124					6																	25916965		2203	4300	6503	26024944	SO:0001583	missense	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.878T>G	6.37:g.25916965A>C	ENSP00000265425:p.Leu293Arg		26024944	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	A	17.60	3.430450	0.62844	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.60299	0.2;0.2;0.2	4.65	3.51	0.40186	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.466016	0.20348	N	0.094120	T	0.53932	0.1827	M	0.79805	2.47	0.26713	N	0.970927	P;P;P	0.40360	0.708;0.708;0.714	P;P;B	0.50162	0.633;0.633;0.273	T	0.53194	-0.8473	10	0.87932	D	0	.	6.4099	0.21686	0.8924:0.0:0.1076:0.0	.	293;293;293	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	R	293	ENSP00000353677:L293R;ENSP00000367081:L293R;ENSP00000265425:L293R	ENSP00000265425:L293R	L	-	2	0	SLC17A2	26024944	0.832000	0.29368	0.996000	0.52242	0.828000	0.46876	3.516000	0.53436	2.067000	0.61834	0.460000	0.39030	CTA		0.433	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			C	25916965	A	C	25916965	3	2	235	1	0	0	0	0	1	0	0	0	14420	420	15	5	448	5	SLC17A2	6	25916965	Missense_Mutation	SNP	A	TCGA-24-1474-01A-01W-0551-08		25916965	145198102	11	13367											
USP45	85015	broad.mit.edu	37	6	99894075	99894075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr6:99894075C>A	ENST00000327681.6	-	14	2105	c.1573G>T	c.(1573-1575)Gga>Tga	p.G525*	USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Nonsense_Mutation_p.G477*|USP45_ENST00000392738.2_Nonsense_Mutation_p.G205*|USP45_ENST00000500704.2_Nonsense_Mutation_p.G525*	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	525	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G525*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ACACCGGATCCACTACTGGAT	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	6											81	68	72					6																	99894075		2203	4300	6503	100000796	SO:0001587	stop_gained	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1573G>T	6.37:g.99894075C>A	ENSP00000333376:p.Gly525*		100000796	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Nonsense_Mutation	SNP	ENST00000327681.6	37	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	C	43	10.517373	0.99420	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	.	.	.	5.19	-0.29	0.12847	.	2.008580	0.01849	N	0.035831	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	6.0066	0.19549	0.1327:0.3886:0.0:0.4787	.	.	.	.	X	205;525;525;477	.	ENSP00000333376:G525X	G	-	1	0	USP45	100000796	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.714000	0.05002	0.051000	0.15978	0.655000	0.94253	GGA		0.493	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		A	99894075	C	A	99894075	4	1	235	1	0	0	0	0	0	1	0	0	17076	603	21	3	891	3	USP45	6	99894075	Nonsense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	73977110	99894075	71220992	12	13368											
SERINC1	57515	broad.mit.edu	37	6	122777762	122777762	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr6:122777762C>G	ENST00000339697.4	-	3	319	c.235G>C	c.(235-237)Gtc>Ctc	p.V79L		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	79					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.V79L(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TTACAAGGGACAACACCTTTC	0.303																																																1	Substitution - Missense(1)	ovary(1)	6											117	103	108					6																	122777762		2203	4300	6503	122819461	SO:0001583	missense	57515			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.235G>C	6.37:g.122777762C>G	ENSP00000342962:p.Val79Leu		122819461	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109432	0.56398	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.14144	2.53;2.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	L	0.39245	1.2	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.11348	-1.0591	10	0.34782	T	0.22	-18.9332	19.9351	0.97137	0.0:1.0:0.0:0.0	.	79	Q9NRX5	SERC1_HUMAN	L	79	ENSP00000342962:V79L;ENSP00000357439:V79L	ENSP00000342962:V79L	V	-	1	0	SERINC1	122819461	0.999000	0.42202	0.998000	0.56505	0.925000	0.55904	4.056000	0.57448	2.703000	0.92315	0.655000	0.94253	GTC		0.303	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		G	122777762	C	G	122777762	3	3	235	1	0	0	0	0	1	0	0	0	14082	478	17	3	1158	3	SERINC1	6	122777762	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	22883687	122777762	48337305	13	13369											
PHACTR2	9749	broad.mit.edu	37	6	144095220	144095220	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr6:144095220G>A	ENST00000427704.2	+	8	1554	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	PHACTR2_ENST00000367584.4_Missense_Mutation_p.R463Q|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R406Q|PHACTR2_ENST00000305766.6_Missense_Mutation_p.R395Q|PHACTR2_ENST00000440869.2_Missense_Mutation_p.R486Q	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	475							protein phosphatase inhibitor activity (GO:0004864)	p.R395Q(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AAAATACGCCGGAGGGATACT	0.453																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)											1	Substitution - Missense(1)	ovary(1)	6											87	80	83					6																	144095220		1871	4097	5968	144136913	SO:0001583	missense	9749			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1424G>A	6.37:g.144095220G>A	ENSP00000391763:p.Arg475Gln		144136913	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660303	0.96734	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.57107	0.42;0.79;0.5;0.79;0.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.994;0.997;0.997;0.984	T	0.75235	-0.3389	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	486;395;406;475	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	Q	463;475;395;486;406	ENSP00000356556:R463Q;ENSP00000391763:R475Q;ENSP00000305530:R395Q;ENSP00000417038:R486Q;ENSP00000356554:R406Q	ENSP00000305530:R395Q	R	+	2	0	PHACTR2	144136913	1.000000	0.71417	0.955000	0.39395	0.770000	0.43624	9.330000	0.96422	2.941000	0.99782	0.655000	0.94253	CGG		0.453	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		A	144095220	G	A	144095220	3	1	235	1	0	0	0	0	1	0	0	0	11810	1116	39	1	1504	1	PHACTR2	6	144095220	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08	21317458	144095220	27019847	14	13370											
TTLL2	83887	broad.mit.edu	37	6	167754356	167754356	+	Missense_Mutation	SNP	C	C	T	rs200878719		TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr6:167754356C>T	ENST00000239587.5	+	3	1056	c.968C>T	c.(967-969)aCg>aTg	p.T323M		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	323	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.T323M(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTAAATGGACGCTCAGCAGA	0.433													C|||	1	0.000199681	0	0	5008	,	,		20194	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6						C	MET/THR	0,4406		0,0,2203	158	167	164		968	2.8	0.8	6		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTLL2	NM_031949.4	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	323/593	167754356	1,13005	2203	4300	6503	167674346	SO:0001583	missense	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.968C>T	6.37:g.167754356C>T	ENSP00000239587:p.Thr323Met		167674346	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.72	2.619248	0.46736	0.0	1.16E-4	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.06687	3.27	3.65	2.77	0.32553	.	0.165964	0.36972	N	0.002315	T	0.17874	0.0429	M	0.83483	2.645	0.37917	D	0.931574	D	0.89917	1.0	D	0.87578	0.998	T	0.01643	-1.1305	10	0.62326	D	0.03	.	9.8142	0.40842	0.0:0.8953:0.0:0.1047	.	323	Q9BWV7	TTLL2_HUMAN	M	323;250	ENSP00000239587:T323M	ENSP00000239587:T323M	T	+	2	0	TTLL2	167674346	0.992000	0.36948	0.780000	0.31762	0.509000	0.34042	3.056000	0.49923	0.859000	0.35456	0.491000	0.48974	ACG		0.433	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		T	167754356	C	T	167754356	3	4	235	1	0	0	0	0	1	0	0	0	16727	536	19	1	978	1	TTLL2	6	167754356	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	23659136	167754356	3360711	15	13371											
SRRT	51593	broad.mit.edu	37	7	100482600	100482600	+	Silent	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr7:100482600C>T	ENST00000347433.4	+	9	1256	c.1098C>T	c.(1096-1098)agC>agT	p.S366S	SRRT_ENST00000432932.1_Silent_p.S366S|SRRT_ENST00000457580.2_Silent_p.S366S|SRRT_ENST00000388793.4_Silent_p.S366S			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	366	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S366S(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACGAGGGCAGCGTGTCAGAGT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	7											161	180	174					7																	100482600		2203	4300	6503	100320536	SO:0001819	synonymous_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1098C>T	7.37:g.100482600C>T			100320536	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	CCDS34709.1																																																																																				0.567	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		T	100482600	C	T	100482600	2	4	235	1	0	0	0	0	0	0	0	1	15174	767	27	1		1	SRRT	7	100482600	Silent	SNP	C	TCGA-24-1474-01A-01W-0551-08		100482600	58656063	16	13372											
MET	4233	broad.mit.edu	37	7	116339852	116339852	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr7:116339852A>T	ENST00000318493.6	+	2	901	c.714A>T	c.(712-714)ttA>ttT	p.L238F	MET_ENST00000397752.3_Missense_Mutation_p.L238F|MET_ENST00000436117.2_Missense_Mutation_p.L238F			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L238F(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGATGTTTTACCTGAGTTCA	0.388			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	ovary(1)	7											206	203	204					7																	116339852		1887	4106	5993	116127088	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.714A>T	7.37:g.116339852A>T	ENSP00000317272:p.Leu238Phe		116127088	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926240	0.52759	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11930	2.73;2.73;2.73	6.17	-3.54	0.04653	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.199295	0.44483	D	0.000459	T	0.28333	0.0700	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999;0.999;0.999;0.999;1.0;0.998;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.994;0.995;1.0;0.992;0.995;0.995;0.995;0.995;0.996;0.986;0.995;1.0;1.0	T	0.13926	-1.0491	10	0.66056	D	0.02	.	3.1414	0.06457	0.313:0.299:0.2976:0.0904	.	238;238;238;238;238;238;238;238;238;238;238;238;238	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	F	238	ENSP00000380860:L238F;ENSP00000317272:L238F;ENSP00000410980:L238F	ENSP00000317272:L238F	L	+	3	2	MET	116127088	0.025000	0.19082	0.522000	0.27862	0.998000	0.95712	-0.731000	0.04909	-0.602000	0.05775	0.533000	0.62120	TTA		0.388	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			T	116339852	A	T	116339852	3	4	235	1	0	0	0	0	1	0	0	0	9485	388	14	5	716	5	MET	7	116339852	Missense_Mutation	SNP	A	TCGA-24-1474-01A-01W-0551-08	15857252	116339852	42798811	17	13373											
TAF3	83860	broad.mit.edu	37	10	8007590	8007590	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr10:8007590A>G	ENST00000344293.5	+	3	2323	c.2117A>G	c.(2116-2118)aAg>aGg	p.K706R		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	706	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.K706R(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aaggacaaaaaggagaagaag	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											21	21	21					10																	8007590		1852	4080	5932	8047596	SO:0001583	missense	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2117A>G	10.37:g.8007590A>G	ENSP00000340271:p.Lys706Arg		8047596	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286381	0.59867	.	.	ENSG00000165632	ENST00000344293	T	0.14516	2.5	5.83	5.83	0.93111	.	0.162448	0.41294	D	0.000912	T	0.41096	0.1144	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.26360	-1.0105	10	0.38643	T	0.18	-27.1468	15.8744	0.79151	1.0:0.0:0.0:0.0	.	706	Q5VWG9	TAF3_HUMAN	R	706	ENSP00000340271:K706R	ENSP00000340271:K706R	K	+	2	0	TAF3	8047596	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.730000	0.91510	2.235000	0.73313	0.533000	0.62120	AAG		0.423	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		G	8007590	A	G	8007590	3	3	235	1	0	0	0	0	1	0	0	0	15525	72	3	4	2127	4	TAF3	10	8007590	Missense_Mutation	SNP	A	TCGA-24-1474-01A-01W-0551-08		8007590	127527157	18	13374											
STAMBPL1	57559	broad.mit.edu	37	10	90676486	90676486	+	Missense_Mutation	SNP	C	C	A	rs140820995	byFrequency	TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr10:90676486C>A	ENST00000371926.3	+	8	1911	c.953C>A	c.(952-954)gCg>gAg	p.A318E	STAMBPL1_ENST00000371927.3_Missense_Mutation_p.A318E|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.A318E|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.A152E	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	318	MPN.					membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.A318E(1)		breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AAGCAGTCTGCGGGACCAGAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	10											163	151	155					10																	90676486		2203	4300	6503	90666466	SO:0001583	missense	57559			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.953C>A	10.37:g.90676486C>A	ENSP00000360994:p.Ala318Glu		90666466	B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165309	0.78339	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	6.07	6.07	0.98685	.	0.065128	0.64402	D	0.000014	T	0.54695	0.1874	M	0.77313	2.365	0.39981	D	0.974912	D;D	0.57257	0.969;0.979	P;B	0.44732	0.459;0.44	T	0.64381	-0.6421	10	0.87932	D	0	-3.199	14.7776	0.69740	0.0:0.8559:0.1441:0.0	.	318;318	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	E	318;318;318;152	ENSP00000360994:A318E;ENSP00000360995:A318E;ENSP00000360992:A318E;ENSP00000360990:A152E	ENSP00000360990:A152E	A	+	2	0	STAMBPL1	90666466	0.999000	0.42202	0.973000	0.42090	0.988000	0.76386	3.946000	0.56644	2.885000	0.99019	0.650000	0.86243	GCG		0.373	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		A	90676486	C	A	90676486	3	1	235	1	0	0	0	0	1	0	0	0	15253	768	27	3	979	3	STAMBPL1	10	90676486	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	82668896	90676486	44858261	19	13375											
LOXL4	84171	broad.mit.edu	37	10	100011329	100011329	+	Silent	SNP	G	G	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr10:100011329G>A	ENST00000260702.3	-	13	2232	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	694	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.I694I(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TTACCTGGAAGATATAATTCC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	10											59	62	61					10																	100011329		2203	4300	6503	100001319	SO:0001819	synonymous_variant	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.2082C>T	10.37:g.100011329G>A			100001319	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	CCDS7473.1																																																																																				0.527	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		A	100011329	G	A	100011329	2	1	235	1	0	0	0	0	0	0	0	1	8902	932	33	2		2	LOXL4	10	100011329	Silent	SNP	G	TCGA-24-1474-01A-01W-0551-08	9334843	100011329	35523418	20	13376											
OR51B2	79345	broad.mit.edu	37	11	5344732	5344732	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr11:5344732C>T	ENST00000328813.2	-	1	850	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V266M(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTCTGGCACATTCTTCCCA	0.388																																																1	Substitution - Missense(1)	ovary(1)	11											122	112	115					11																	5344732		2201	4297	6498	5301308	SO:0001583	missense	79345			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.796G>A	11.37:g.5344732C>T	ENSP00000327540:p.Val266Met		5301308	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	C	4.635	0.117978	0.08881	.	.	ENSG00000184881	ENST00000328813	T	0.00164	8.64	4.38	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.625268	0.12210	U	0.489394	T	0.00300	0.0009	L	0.51853	1.615	0.09310	N	1	D	0.61697	0.99	D	0.67382	0.951	T	0.55939	-0.8061	10	0.56958	D	0.05	.	7.3329	0.26592	0.1671:0.7418:0.0:0.0911	.	266	Q9Y5P1	O51B2_HUMAN	M	266	ENSP00000327540:V266M	ENSP00000327540:V266M	V	-	1	0	OR51B2	5301308	0.000000	0.05858	0.014000	0.15608	0.004000	0.04260	-1.021000	0.03615	1.095000	0.41419	-0.158000	0.13435	GTG		0.388	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		T	5344732	C	T	5344732	3	4	235	1	0	0	0	0	1	0	0	0	11089	478	17	2	146	2	OR51B2	11	5344732	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08		5344732	129661784	21	13377											
OR5AP2	338675	broad.mit.edu	37	11	56409376	56409376	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr11:56409376G>C	ENST00000302981.1	-	1	539	c.540C>G	c.(538-540)atC>atG	p.I180M	OR5AP2_ENST00000544374.1_Missense_Mutation_p.I181M	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I180M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGAAATGGTTGATCCTATTAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	11											179	175	177					11																	56409376		2201	4296	6497	56165952	SO:0001583	missense	338675			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.540C>G	11.37:g.56409376G>C	ENSP00000303111:p.Ile180Met		56165952	B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707551	0.48412	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00220	8.52;8.52	5.09	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000236	T	0.00666	0.0022	M	0.93241	3.395	0.33916	D	0.640225	D	0.64830	0.994	D	0.65233	0.933	T	0.25433	-1.0132	10	0.87932	D	0	.	10.5778	0.45238	0.0761:0.1335:0.7904:0.0	.	180	Q8NGF4	O5AP2_HUMAN	M	181;180	ENSP00000442701:I181M;ENSP00000303111:I180M	ENSP00000303111:I180M	I	-	3	3	OR5AP2	56165952	0.237000	0.23815	1.000000	0.80357	0.966000	0.64601	-0.047000	0.11963	2.665000	0.90641	0.637000	0.83480	ATC		0.428	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		C	56409376	G	C	56409376	3	2	235	1	0	0	0	0	1	0	0	0	11144	1280	45	3	414	3	OR5AP2	11	56409376	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08	51064644	56409376	78597140	22	13378											
STAB2	55576	broad.mit.edu	37	12	104134438	104134438	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr12:104134438C>A	ENST00000388887.2	+	55	5989	c.5785C>A	c.(5785-5787)Ccc>Acc	p.P1929T		NM_017564.9	NP_060034.9			stabilin 2									p.P1929T(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTACAACCTGCCCTTCAAGAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	12											88	84	85					12																	104134438		2203	4300	6503	102658568	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5785C>A	12.37:g.104134438C>A	ENSP00000373539:p.Pro1929Thr		102658568		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	7.680	0.688860	0.14973	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.88509	-2.39	5.46	-1.57	0.08506	.	1.106200	0.06822	N	0.792466	D	0.82806	0.5117	L	0.49640	1.575	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.62562	-0.6828	10	0.27082	T	0.32	.	4.653	0.12605	0.249:0.2686:0.0:0.4823	.	1929	Q8WWQ8	STAB2_HUMAN	T	1929;616	ENSP00000373539:P1929T	ENSP00000258495:P616T	P	+	1	0	STAB2	102658568	0.000000	0.05858	0.000000	0.03702	0.487000	0.33371	-1.792000	0.01756	-0.711000	0.04995	-0.824000	0.03097	CCC		0.582	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104134438	C	A	104134438	3	1	235	1	0	0	0	0	1	0	0	0	15240	739	26	3	6003	3	STAB2	12	104134438	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08		104134438	29717457	23	13379											
WDR66	144406	broad.mit.edu	37	12	122369783	122369783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr12:122369783C>A	ENST00000288912.4	+	4	1733	c.879C>A	c.(877-879)taC>taA	p.Y293*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.Y293*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	293							calcium ion binding (GO:0005509)	p.Y293*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACAATCAATACCACCTTCAGG	0.438																																					Esophageal Squamous(85;849 1794 49757 52143)											1	Substitution - Nonsense(1)	ovary(1)	12											150	137	141					12																	122369783		1988	4166	6154	120854166	SO:0001587	stop_gained	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.879C>A	12.37:g.122369783C>A	ENSP00000288912:p.Tyr293*		120854166	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Nonsense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195630	0.58126	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	4.72	0.78	0.18556	.	0.452872	0.24398	N	0.038866	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2177	0.37358	0.0:0.6816:0.0:0.3184	.	.	.	.	X	293	.	ENSP00000288912:Y293X	Y	+	3	2	WDR66	120854166	0.981000	0.34729	0.255000	0.24374	0.090000	0.18270	0.338000	0.19858	0.093000	0.17368	-0.424000	0.05967	TAC		0.438	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		A	122369783	C	A	122369783	4	1	235	1	0	0	0	0	0	1	0	0	17317	518	18	3	889	3	WDR66	12	122369783	Nonsense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	18235345	122369783	11482112	24	13380											
CYB5D2	124936	broad.mit.edu	37	17	4060287	4060287	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr17:4060287C>A	ENST00000301391.3	+	4	1206	c.706C>A	c.(706-708)Cac>Aac	p.H236N	CYB5D2_ENST00000575251.1_Missense_Mutation_p.H124N|CYB5D2_ENST00000573984.1_Intron|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	236					nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)	p.H236N(1)		breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CAACCCTCCACACAGAAATCG	0.607											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	17											69	59	62					17																	4060287		2203	4300	6503	4007036	SO:0001583	missense	124936			AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.706C>A	17.37:g.4060287C>A	ENSP00000301391:p.His236Asn	615	4007036	B2R7R6|D3DTJ9|I3L1K2	Missense_Mutation	SNP	ENST00000301391.3	37	CCDS11044.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794624	0.31777	.	.	ENSG00000167740	ENST00000301391	T	0.76448	-1.02	5.09	5.09	0.68999	.	0.123452	0.53938	D	0.000059	T	0.74831	0.3768	L	0.58925	1.835	0.42176	D	0.991668	B	0.22346	0.068	B	0.18561	0.022	T	0.70934	-0.4737	10	0.33940	T	0.23	-18.0435	17.2209	0.86957	0.0:1.0:0.0:0.0	.	236	Q8WUJ1	NEUFC_HUMAN	N	236	ENSP00000301391:H236N	ENSP00000301391:H236N	H	+	1	0	CYB5D2	4007036	0.643000	0.27269	0.738000	0.30950	0.129000	0.20672	2.393000	0.44442	2.650000	0.89964	0.561000	0.74099	CAC		0.607	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438698.1	NM_144611		A	4060287	C	A	4060287	3	1	235	1	0	0	0	0	1	0	0	0	4125	478	17	3	720	3	CYB5D2	17	4060287	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08		4060287	77134923	25	13381											
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCC	0.557		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"	144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	17											89	80	83					17																	7578275		2203	4300	6503	7519000	SO:0001587	stop_gained	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.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*		7519000	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578275	G	A	7578275	4	1	235	1	0	0	0	0	0	1	0	0	16381	1299	45	2	720	2	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08	3517988	7578275	73616935	26	13382											
MYH2	4620	broad.mit.edu	37	17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr17:10429940C>T	ENST00000245503.5	-	30	4547	c.4163G>A	c.(4162-4164)cGc>cAc	p.R1388H	MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1388					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1388H(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCTGTGCGCTGGATGGC	0.512																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	17											175	162	166					17																	10429940		2203	4300	6503	10370665	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4163G>A	17.37:g.10429940C>T	ENSP00000245503:p.Arg1388His		10370665	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504663	0.96371	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80480	-1.38;-1.38	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.91402	0.7287	M	0.89030	3	0.58432	D	0.999997	D	0.89917	1.0	D	0.74023	0.982	D	0.92664	0.6144	10	0.87932	D	0	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	1388	Q9UKX2	MYH2_HUMAN	H	1388	ENSP00000245503:R1388H;ENSP00000380367:R1388H	ENSP00000245503:R1388H	R	-	2	0	MYH2	10370665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.703000	0.92315	0.655000	0.94253	CGC		0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10429940	C	T	10429940	3	4	235	1	0	0	0	0	1	0	0	0	10035	768	27	1	1706	1	MYH2	17	10429940	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	2851665	10429940	70765270	27	13383											
UTP6	55813	broad.mit.edu	37	17	30202395	30202395	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr17:30202395G>C	ENST00000261708.4	-	14	1300	c.1163C>G	c.(1162-1164)gCt>gGt	p.A388G	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	388					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.A388G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CACTTCCAGAGCTTCCCTCAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	17											84	81	82					17																	30202395		2203	4300	6503	27226508	SO:0001583	missense	55813			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated antigen 66"		"chromosome 17 open reading frame 40"	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.1163C>G	17.37:g.30202395G>C	ENSP00000261708:p.Ala388Gly		27226508	Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252001	0.80135	.	.	ENSG00000108651	ENST00000261708	T	0.39592	1.07	5.42	5.42	0.78866	.	0.146722	0.64402	D	0.000008	T	0.53658	0.1810	M	0.64997	1.995	0.58432	D	0.999996	D;D	0.61697	0.99;0.99	P;P	0.54140	0.743;0.743	T	0.47182	-0.9137	10	0.27082	T	0.32	-6.1776	16.9846	0.86337	0.0:0.0:1.0:0.0	.	388;388	B3KQ21;Q9NYH9	.;UTP6_HUMAN	G	388	ENSP00000261708:A388G	ENSP00000261708:A388G	A	-	2	0	UTP6	27226508	0.999000	0.42202	0.716000	0.30569	0.778000	0.44026	5.813000	0.69201	2.565000	0.86533	0.462000	0.41574	GCT		0.433	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		C	30202395	G	C	30202395	3	2	235	1	0	0	0	0	1	0	0	0	17102	971	34	3	654	3	UTP6	17	30202395	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08	19772455	30202395	50992815	28	13384											
SMARCA4	6597	broad.mit.edu	37	19	11138568	11138568	+	Silent	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr19:11138568C>T	ENST00000429416.3	+	25	3605	c.3324C>T	c.(3322-3324)ctC>ctT	p.L1108L	SMARCA4_ENST00000344626.4_Silent_p.L1108L|SMARCA4_ENST00000541122.2_Silent_p.L1108L|SMARCA4_ENST00000589677.1_Silent_p.L1108L|SMARCA4_ENST00000450717.3_Silent_p.L1108L|SMARCA4_ENST00000590574.1_Silent_p.L1108L|SMARCA4_ENST00000413806.3_Silent_p.L1108L|SMARCA4_ENST00000444061.3_Silent_p.L1108L|SMARCA4_ENST00000358026.2_Silent_p.L1108L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1108	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(2)|p.L1108L(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGACCTCCCTCATGACCATCA	0.468			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	3	Unknown(2)|Substitution - coding silent(1)	lung(2)|ovary(1)	19											180	174	176					19																	11138568		2203	4300	6503	10999568	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3324C>T	19.37:g.11138568C>T			10999568	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																				0.468	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11138568	C	T	11138568	2	4	235	1	0	0	0	0	0	0	0	1	14773	813	29	2		2	SMARCA4	19	11138568	Silent	SNP	C	TCGA-24-1474-01A-01W-0551-08		11138568	47990415	29	13385											
KCNN4	3783	broad.mit.edu	37	19	44284881	44284881	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr19:44284881C>T	ENST00000262888.3	-	1	528	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	45					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.E45K(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CACAGCATCTCTGCATGCAGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											148	128	135					19																	44284881		2203	4300	6503	48976721	SO:0001583	missense	3783			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.133G>A	19.37:g.44284881C>T	ENSP00000262888:p.Glu45Lys		48976721	Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	c	29.0	4.966972	0.92855	.	.	ENSG00000104783	ENST00000262888	D	0.99933	-8.27	4.11	4.11	0.48088	Potassium channel, calcium-activated, SK, conserved region (1);	0.300322	0.24725	U	0.036120	D	0.99906	0.9955	M	0.75085	2.285	0.45733	D	0.998636	D	0.71674	0.998	D	0.67725	0.953	D	0.95294	0.8397	10	0.87932	D	0	-22.1744	11.8999	0.52678	0.0:1.0:0.0:0.0	.	45	O15554	KCNN4_HUMAN	K	45	ENSP00000262888:E45K	ENSP00000262888:E45K	E	-	1	0	KCNN4	48976721	0.993000	0.37304	0.991000	0.47740	0.988000	0.76386	3.370000	0.52372	1.862000	0.54008	0.537000	0.68136	GAG		0.637	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		T	44284881	C	T	44284881	3	4	235	1	0	0	0	0	1	0	0	0	8081	922	32	2	1182	2	KCNN4	19	44284881	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	33146313	44284881	14844102	30	13386											
NCR1	9437	broad.mit.edu	37	19	55420747	55420747	+	Missense_Mutation	SNP	G	G	A	rs369920502		TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr19:55420747G>A	ENST00000291890.4	+	4	537	c.499G>A	c.(499-501)Gga>Aga	p.G167R	NCR1_ENST00000594765.1_Missense_Mutation_p.G167R|NCR1_ENST00000598576.1_Missense_Mutation_p.G155R|NCR1_ENST00000338835.5_Missense_Mutation_p.G167R|NCR1_ENST00000350790.5_Missense_Mutation_p.G72R|NCR1_ENST00000357397.5_Missense_Mutation_p.G60R|NCR1_ENST00000447255.1_Missense_Mutation_p.G167R	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	167	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.G167R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CGTACAGCGCGGATACGGGAA	0.567																																																1	Substitution - Missense(1)	ovary(1)	19						G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	110	93	98		499,499,214,214,499	-4	0	19		98	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NCR1	NM_001145457.1,NM_001145458.1,NM_001242356.1,NM_001242357.1,NM_004829.5	125,125,125,125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	167/304,167/288,72/210,72/193,167/305	55420747	1,13005	2203	4300	6503	60112559	SO:0001583	missense	9437			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.499G>A	19.37:g.55420747G>A	ENSP00000291890:p.Gly167Arg		60112559	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	0.154	-1.088098	0.01873	2.27E-4	0.0	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.03301	3.98;3.98;3.98;3.98;3.98	3.53	-3.97	0.04094	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.546232	0.16721	N	0.202255	T	0.01287	0.0042	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B	0.15930	0.015;0.012;0.013;0.012;0.003;0.004	B;B;B;B;B;B	0.23018	0.021;0.005;0.022;0.005;0.011;0.043	T	0.44636	-0.9315	10	0.14252	T	0.57	.	6.9196	0.24380	0.3148:0.1645:0.5208:0.0	.	60;72;167;72;167;167	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	R	167;167;167;72;60	ENSP00000291890:G167R;ENSP00000404434:G167R;ENSP00000339515:G167R;ENSP00000344358:G72R;ENSP00000349972:G60R	ENSP00000291890:G167R	G	+	1	0	NCR1	60112559	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.600000	0.05693	-1.122000	0.02945	-2.156000	0.00330	GGA		0.567	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			A	55420747	G	A	55420747	3	1	235	1	0	0	0	0	1	0	0	0	10237	1117	39	1	513	1	NCR1	19	55420747	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08	11135866	55420747	3708236	31	13387											
BPIL3	128859	broad.mit.edu	37	20	31626752	31626752	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr20:31626752C>T	ENST00000349552.1	+	9	884	c.884C>T	c.(883-885)gCt>gTt	p.A295V		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	295						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A295V(1)									AAGACCCTGGCTCGCTTCATT	0.557																																																1	Substitution - Missense(1)	ovary(1)	20											187	183	185					20																	31626752		2203	4300	6503	31090413	SO:0001583	missense	128859			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.884C>T	20.37:g.31626752C>T	ENSP00000344929:p.Ala295Val		31090413		Missense_Mutation	SNP	ENST00000349552.1	37	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	c	16.38	3.106522	0.56291	.	.	ENSG00000167104	ENST00000349552	T	0.07800	3.16	4.48	4.48	0.54585	.	0.453031	0.17668	N	0.166088	T	0.20455	0.0492	M	0.68317	2.08	0.24989	N	0.991549	D	0.53312	0.959	P	0.55749	0.783	T	0.02053	-1.1222	10	0.54805	T	0.06	.	12.5573	0.56261	0.0:1.0:0.0:0.0	.	295	Q8NFQ5	BPIB6_HUMAN	V	295	ENSP00000344929:A295V	ENSP00000344929:A295V	A	+	2	0	BPIFB6	31090413	0.984000	0.35163	0.961000	0.40146	0.282000	0.26991	2.135000	0.42112	2.333000	0.79357	0.556000	0.70494	GCT		0.557	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		T	31626752	C	T	31626752	3	4	235	1	0	0	0	0	1	0	0	0	1493	797	28	2	918	2	BPIL3	20	31626752	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08		31626752	31398768	32	13388											
KRTAP27-1	643812	broad.mit.edu	37	21	31709535	31709535	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr21:31709535A>G	ENST00000382835.2	-	1	477	c.452T>C	c.(451-453)tTc>tCc	p.F151S		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	151						intermediate filament (GO:0005882)		p.F151S(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CAGAGTTTCGAAATTTTTAGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	21											144	147	146					21																	31709535		2203	4300	6503	30631406	SO:0001583	missense	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.452T>C	21.37:g.31709535A>G	ENSP00000372286:p.Phe151Ser		30631406		Missense_Mutation	SNP	ENST00000382835.2	37	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274417	0.23307	.	.	ENSG00000206107	ENST00000382835	T	0.03982	3.74	4.44	-1.16	0.09678	.	0.963760	0.08533	N	0.931777	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.49123	-0.8972	10	0.17369	T	0.5	0.516	0.7135	0.00928	0.1671:0.3333:0.1604:0.3391	.	151	Q3LI81	KR271_HUMAN	S	151	ENSP00000372286:F151S	ENSP00000372286:F151S	F	-	2	0	KRTAP27-1	30631406	0.019000	0.18553	0.007000	0.13788	0.008000	0.06430	-0.232000	0.09055	-0.221000	0.09973	-0.223000	0.12442	TTC		0.488	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		G	31709535	A	G	31709535	3	3	235	1	0	0	0	0	1	0	0	0	8544	246	9	4	175	4	KRTAP27-1	21	31709535	Missense_Mutation	SNP	A	TCGA-24-1474-01A-01W-0551-08		31709535	16420360	33	13389											
MORC2	22880	broad.mit.edu	37	22	31330166	31330166	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chr22:31330166G>A	ENST00000397641.3	-	20	2614	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W	MORC2_ENST00000469915.1_5'Flank|MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.R674W			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	736						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R674W(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCCGCTTCCGACTAGGGGTA	0.542																																																1	Substitution - Missense(1)	ovary(1)	22											104	80	88					22																	31330166		2203	4300	6503	29660166	SO:0001583	missense	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2206C>T	22.37:g.31330166G>A	ENSP00000380763:p.Arg736Trp		29660166	B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.412892	0.83340	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.14144	2.53;2.53	5.95	4.91	0.64330	.	0.511565	0.22246	N	0.062603	T	0.28699	0.0711	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.01791	-1.1273	10	0.87932	D	0	.	13.7426	0.62857	0.0:0.0:0.8463:0.1537	.	736	Q9Y6X9	MORC2_HUMAN	W	736;674	ENSP00000380763:R736W;ENSP00000215862:R674W	ENSP00000215862:R674W	R	-	1	2	MORC2	29660166	0.967000	0.33354	0.808000	0.32385	0.206000	0.24218	2.943000	0.49026	1.461000	0.47929	0.655000	0.94253	CGG		0.542	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		A	31330166	G	A	31330166	3	1	235	1	0	0	0	0	1	0	0	0	9702	1057	37	1	920	1	MORC2	22	31330166	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08		31330166	19974400	34	13390											
ZXDA	7789	broad.mit.edu	37	X	57935896	57935896	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chrX:57935896T>G	ENST00000358697.4	-	1	1171	c.959A>C	c.(958-960)cAc>cCc	p.H320P		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	320	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H320P(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CGACTGCAGGTGCCTCTTGAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	X											29	28	28					X																	57935896		2203	4300	6503	57952621	SO:0001583	missense	7789			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.959A>C	X.37:g.57935896T>G	ENSP00000351530:p.His320Pro		57952621	Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	16.55	3.155320	0.57259	.	.	ENSG00000198205	ENST00000358697	D	0.99974	-10.2	3.23	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95709	0.8756	9	.	.	.	.	9.1236	0.36801	0.0:0.0:0.0:1.0	.	320	P98168	ZXDA_HUMAN	P	320	ENSP00000351530:H320P	.	H	-	2	0	ZXDA	57952621	1.000000	0.71417	0.993000	0.49108	0.910000	0.53928	3.340000	0.52143	1.505000	0.48720	0.339000	0.21740	CAC		0.632	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		G	57935896	T	G	57935896	3	3	235	1	0	0	0	0	1	0	0	0	18250	1696	59	5	1444	5	ZXDA	23	57935896	Missense_Mutation	SNP	T	TCGA-24-1474-01A-01W-0551-08		57935896	97334664	35	13391											
SMARCA1	6594	broad.mit.edu	37	X	128645834	128645834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chrX:128645834G>A	ENST00000371122.4	-	6	886	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R253*|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R253*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	253	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R253*(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGGACCCATCGTTTAAATTCA	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	X																																								128473515	SO:0001587	stop_gained	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.757C>T	X.37:g.128645834G>A	ENSP00000360163:p.Arg253*		128473515	Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	38	6.908317	0.97928	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2544	13.3533	0.60613	0.0:0.0:0.8425:0.1575	.	.	.	.	X	253;253;253;232	.	ENSP00000360162:R253X	R	-	1	2	SMARCA1	128473515	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.628000	0.67791	2.279000	0.76181	0.600000	0.82982	CGA		0.388	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		A	128645834	G	A	128645834	4	1	235	1	0	0	0	0	0	1	0	0	14771	1153	40	1	2483	1	SMARCA1	23	128645834	Nonsense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08	70709938	128645834	26624726	36	13392											
ATP11C	286410	broad.mit.edu	37	X	138865393	138865393	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chrX:138865393G>C	ENST00000327569.3	-	17	1807	c.1709C>G	c.(1708-1710)tCg>tGg	p.S570W	ATP11C_ENST00000370543.1_Missense_Mutation_p.S570W|ATP11C_ENST00000359686.2_Missense_Mutation_p.S570W|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.S570W|ATP11C_ENST00000370557.1_Missense_Mutation_p.S567W	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	570					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S570W(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAAAACTGCCGAGTCTGCTCC	0.378																																																1	Substitution - Missense(1)	ovary(1)	X											172	165	168					X																	138865393		2203	4300	6503	138693059	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1709C>G	X.37:g.138865393G>C	ENSP00000332756:p.Ser570Trp		138693059	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.643624|3.643624	0.67244|0.67244	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000422228|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.|T;T;T;T;T	.|0.70399	.|-0.48;-0.48;-0.48;-0.48;-0.48	5.03|5.03	5.03|5.03	0.67393|0.67393	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.142445	.|0.48767	.|D	.|0.000174	D|D	0.89553|0.89553	0.6748|0.6748	H|H	0.98682|0.98682	4.3|4.3	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.993;0.993	D|D	0.92706|0.92706	0.6179|0.6179	5|10	.|0.87932	.|D	.|0	.|.	12.2538|12.2538	0.54613|0.54613	0.0:0.1665:0.8335:0.0|0.0:0.1665:0.8335:0.0	.|.	.|570;570	.|Q8NB49-3;Q8NB49	.|.;AT11C_HUMAN	G|W	122|567;570;570;570;570	.|ENSP00000359588:S567W;ENSP00000355165:S570W;ENSP00000332756:S570W;ENSP00000359574:S570W;ENSP00000352715:S570W	.|ENSP00000332756:S570W	R|S	-|-	1|2	2|0	ATP11C|ATP11C	138693059|138693059	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.906000|0.906000	0.53458|0.53458	7.444000|7.444000	0.80532|0.80532	2.064000|2.064000	0.61679|0.61679	0.594000|0.594000	0.82650|0.82650	CGG|TCG		0.378	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		C	138865393	G	C	138865393	3	2	235	1	0	0	0	0	1	0	0	0	1121	1059	37	3	1808	3	ATP11C	23	138865393	Missense_Mutation	SNP	G	TCGA-24-1474-01A-01W-0551-08	10219559	138865393	16405167	37	13393											
GABRE	2564	broad.mit.edu	37	X	151123994	151123994	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1474-01A-01W-0551-08	TCGA-24-1474-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e9c9363b-b896-4a4f-9be2-d75f0ad51a89	ea62e31c-33ae-4c4c-a192-407e6855e72d	g.chrX:151123994C>T	ENST00000370328.3	-	8	1036	c.983G>A	c.(982-984)cGt>cAt	p.R328H	GABRE_ENST00000370325.1_Missense_Mutation_p.R328H|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	328					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R215H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAAATTCTTACGAGAAAAGGT	0.507																																																1	Substitution - Missense(1)	ovary(1)	X											124	106	112					X																	151123994		2203	4300	6503	150874650	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.983G>A	X.37:g.151123994C>T	ENSP00000359353:p.Arg328His		150874650	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306326	0.60305	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.86694	-2.16;-2.16	5.93	4.18	0.49190	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.56097	D	0.000036	D	0.91147	0.7212	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	D	0.90311	0.4337	10	0.87932	D	0	.	9.6403	0.39835	0.0:0.828:0.0:0.172	.	328	P78334	GBRE_HUMAN	H	328	ENSP00000359353:R328H;ENSP00000359350:R328H	ENSP00000359350:R328H	R	-	2	0	GABRE	150874650	1.000000	0.71417	0.006000	0.13384	0.179000	0.23085	4.857000	0.62939	0.641000	0.30601	0.600000	0.82982	CGT		0.507	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		T	151123994	C	T	151123994	3	4	235	1	0	0	0	0	1	0	0	0	6170	536	19	1	545	1	GABRE	23	151123994	Missense_Mutation	SNP	C	TCGA-24-1474-01A-01W-0551-08	12258601	151123994	4146566	38	13394											
LRRC8C	84230	hgsc.bcm.edu	37	1	90178828	90178828	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr1:90178828G>T	ENST00000370454.4	+	3	954	c.699G>T	c.(697-699)aaG>aaT	p.K233N	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	233					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K233N(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGATAAAAAGGAAGGTGAGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											67	70	69					1																	90178828		2203	4300	6503	89951416	SO:0001583	missense	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.699G>T	1.37:g.90178828G>T	ENSP00000359483:p.Lys233Asn		89951416	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602444	0.46423	.	.	ENSG00000171488	ENST00000370454	T	0.30714	1.52	6.05	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	M	0.78456	2.415	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	T	0.45293	-0.9271	10	0.87932	D	0	.	8.5092	0.33206	0.2912:0.0:0.7088:0.0	.	233	Q8TDW0	LRC8C_HUMAN	N	233	ENSP00000359483:K233N	ENSP00000359483:K233N	K	+	3	2	LRRC8C	89951416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.773000	0.47686	1.575000	0.49775	0.650000	0.86243	AAG		0.448	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		T	90178828	G	T	90178828	3	4	236	1	0	0	0	0	1	0	0	0	9023	991	35	3	705	3	LRRC8C	1	90178828	Missense_Mutation	SNP	G	TCGA-24-1544-01A-01W-0615-10		90178828	159071793	1	13395											
KIF14	9928	hgsc.bcm.edu	37	1	200571080	200571080	+	Missense_Mutation	SNP	C	C	T	rs147597734	byFrequency	TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr1:200571080C>T	ENST00000367350.4	-	11	2534	c.2096G>A	c.(2095-2097)cGt>cAt	p.R699H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	699	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.R699H(3)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GACTATTAAACGGGCTTGGTT	0.348													C|||	5	0.000998403	0.003	0.0014	5008	,	,		17764	0		0	False		,,,				2504	0															3	Substitution - Missense(3)	central_nervous_system(2)|ovary(1)	1						C	HIS/ARG	6,4398	9.9+/-24.2	0,6,2196	144	131	135		2096	5.7	0.7	1	dbSNP_134	135	0,8598		0,0,4299	yes	missense	KIF14	NM_014875.2	29	0,6,6495	TT,TC,CC		0.0,0.1362,0.0461	probably-damaging	699/1649	200571080	6,12996	2202	4299	6501	198837703	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2096G>A	1.37:g.200571080C>T	ENSP00000356319:p.Arg699His		198837703	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	33	5.238674	0.95240	0.001362	0.0	ENSG00000118193	ENST00000367350	T	0.76448	-1.02	5.66	5.66	0.87406	Kinesin, motor domain (3);	0.054538	0.85682	D	0.000000	D	0.90280	0.6960	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.91137	0.4942	10	0.56958	D	0.05	.	19.7376	0.96214	0.0:1.0:0.0:0.0	.	699	Q15058	KIF14_HUMAN	H	699	ENSP00000356319:R699H	ENSP00000356319:R699H	R	-	2	0	KIF14	198837703	1.000000	0.71417	0.741000	0.31004	0.903000	0.53119	7.461000	0.80834	2.657000	0.90304	0.563000	0.77884	CGT		0.348	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		T	200571080	C	T	200571080	3	4	236	1	0	0	0	0	1	0	0	0	8276	536	19	1	2930	1	KIF14	1	200571080	Missense_Mutation	SNP	C	TCGA-24-1544-01A-01W-0615-10	110392252	200571080	48679541	2	13396											
FBXO28	23219	hgsc.bcm.edu	37	1	224318212	224318212	+	Silent	SNP	G	G	A			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr1:224318212G>A	ENST00000366862.5	+	2	349	c.306G>A	c.(304-306)ttG>ttA	p.L102L	FBXO28_ENST00000424254.2_Silent_p.L102L	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	102	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.L102L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AGAGAATGTTGAATCAGGGAT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	1											156	146	150					1																	224318212		2203	4300	6503	222384835	SO:0001819	synonymous_variant	23219			AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"F-boxes /  "other""	29046	protein-coding gene	gene with protein product	"centromere protein 30"	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.306G>A	1.37:g.224318212G>A			222384835	E9PEM8|O75070	Silent	SNP	ENST00000366862.5	37	CCDS1539.1																																																																																				0.373	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		A	224318212	G	A	224318212	2	1	236	1	0	0	0	0	0	0	0	1	5738	1281	45	2		2	FBXO28	1	224318212	Silent	SNP	G	TCGA-24-1544-01A-01W-0615-10	23747132	224318212	24932409	3	13397											
ARHGAP25	9938	hgsc.bcm.edu	37	2	69053251	69053251	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr2:69053251G>T	ENST00000295381.3	+	11	2282	c.1863G>T	c.(1861-1863)gaG>gaT	p.E621D	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E582D|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E622D|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E614D|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E615D|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E315D	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	621					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.E615D(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGATGTTGAGAAGAGGAACA	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											107	112	110					2																	69053251		2203	4300	6503	68906755	SO:0001583	missense	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1863G>T	2.37:g.69053251G>T	ENSP00000295381:p.Glu621Asp		68906755	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.096674|5.096674	0.94197|0.94197	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T|.	0.61510|.	0.1;0.1;0.1;0.1;0.1;0.1|.	5.95|5.95	5.08|5.08	0.68730|0.68730	.|.	0.113125|.	0.64402|.	D|.	0.000008|.	T|T	0.61009|0.61009	0.2313|0.2313	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.67145|.	0.996;0.993;0.993;0.993;0.974|.	P;P;P;P;P|.	0.60789|.	0.875;0.879;0.879;0.879;0.677|.	T|T	0.58526|0.58526	-0.7621|-0.7621	10|5	0.45353|.	T|.	0.12|.	.|.	13.8121|13.8121	0.63270|0.63270	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	582;622;615;614;621|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331|.	.;.;.;.;RHG25_HUMAN|.	D|I	621;622;582;614;615;606;315|481	ENSP00000295381:E621D;ENSP00000386911:E622D;ENSP00000420583:E582D;ENSP00000386863:E614D;ENSP00000386241:E615D;ENSP00000417467:E315D|.	ENSP00000295381:E621D|.	E|R	+|+	3|2	2|0	ARHGAP25|ARHGAP25	68906755|68906755	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.990000|0.990000	0.78478|0.78478	7.196000|7.196000	0.77805|0.77805	1.527000|1.527000	0.49086|0.49086	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.512	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		T	69053251	G	T	69053251	3	4	236	1	0	0	0	0	1	0	0	0	874	933	33	3	1948	3	ARHGAP25	2	69053251	Missense_Mutation	SNP	G	TCGA-24-1544-01A-01W-0615-10		69053251	174146122	4	13398											
CCDC93	54520	hgsc.bcm.edu	37	2	118703104	118703104	+	Splice_Site	SNP	C	C	A	rs140512719		TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr2:118703104C>A	ENST00000376300.2	-	17	1488		c.e17+1		CCDC93_ENST00000319432.5_Splice_Site	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93									p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CAGGTACTTACGTCATGAGTC	0.517																																																1	Unknown(1)	ovary(1)	2											100	90	94					2																	118703104		2203	4300	6503	118419574	SO:0001630	splice_region_variant	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1350+1G>T	2.37:g.118703104C>A			118419574	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Splice_Site	SNP	ENST00000376300.2	37	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412612	0.42817	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6483	0.62294	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC93	118419574	0.963000	0.33076	0.957000	0.39632	0.024000	0.10985	2.899000	0.48679	2.941000	0.99782	0.655000	0.94253	.		0.517	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	Intron	A	118703104	C	A	118703104	5	1	236	1	0	0	0	0	0	0	1	0	2872	550	19	3	576	3	CCDC93	2	118703104	Splice_Site	SNP	C	TCGA-24-1544-01A-01W-0615-10	49649853	118703104	124496269	5	13399											
FZD7	8324	hgsc.bcm.edu	37	2	202900306	202900306	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr2:202900306delC	ENST00000286201.1	+	1	997	c.936delC	c.(934-936)cgcfs	p.R312fs	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	312					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A313fs*55(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TAGAGGACCGCGCCGTGTGCG	0.642											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	ovary(1)	2											67	66	66					2																	202900306		2203	4300	6503	202608551	SO:0001589	frameshift_variant	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.936delC	2.37:g.202900306delC	ENSP00000286201:p.Arg312fs	2133	202608551	O94816|Q53S59|Q96B74	Frame_Shift_Del	DEL	ENST00000286201.1	37	CCDS2351.1																																																																																				0.642	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		-	202900306	C	-	202900306	7	5	236	1	0	1	0	1	0	0	0	0	6135	755	27	0	938	0	FZD7	2	202900306	Frame_Shift_Del	DEL	C	TCGA-24-1544-01A-01W-0615-10	84197202	202900306	40299067	6	13400											
PIK3R4	30849	hgsc.bcm.edu	37	3	130425975	130425975	+	Silent	SNP	T	T	C			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr3:130425975T>C	ENST00000356763.3	-	11	3095	c.2538A>G	c.(2536-2538)agA>agG	p.R846R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	846					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R846R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTACATGTTTTCTGGCTATGA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	3											83	76	78					3																	130425975		2203	4300	6503	131908665	SO:0001819	synonymous_variant	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2538A>G	3.37:g.130425975T>C			131908665	Q2TBF4	Silent	SNP	ENST00000356763.3	37	CCDS3067.1																																																																																				0.418	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		C	130425975	T	C	130425975	2	2	236	1	0	0	0	0	0	0	0	1	11921	1780	62	4		4	PIK3R4	3	130425975	Silent	SNP	T	TCGA-24-1544-01A-01W-0615-10		130425975	67596455	7	13401											
MAML1	9794	hgsc.bcm.edu	37	5	179200915	179200915	+	Silent	SNP	C	C	A			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr5:179200915C>A	ENST00000292599.3	+	5	2351	c.2088C>A	c.(2086-2088)ccC>ccA	p.P696P	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.P696P(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCGTGCCCGGCATGAACA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	5											126	129	128					5																	179200915		2203	4300	6503	179133521	SO:0001819	synonymous_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2088C>A	5.37:g.179200915C>A			179133521		Silent	SNP	ENST00000292599.3	37	CCDS34315.1																																																																																				0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		A	179200915	C	A	179200915	2	1	236	1	0	0	0	0	0	0	0	1	9205	639	23	3		3	MAML1	5	179200915	Silent	SNP	C	TCGA-24-1544-01A-01W-0615-10		179200915	1714345	8	13402											
F13A1	2162	hgsc.bcm.edu	37	6	6305671	6305671	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr6:6305671G>A	ENST00000264870.3	-	3	497	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	78					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R78C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGCCCTCTGCGGACAATCAGC	0.478																																																1	Substitution - Missense(1)	ovary(1)	6	GRCh37	CM023370	F13A1	M							271	212	232					6																	6305671		2203	4300	6503	6250670	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.232C>T	6.37:g.6305671G>A	ENSP00000264870:p.Arg78Cys		6250670	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.890227	0.72524	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.98958	-5.27;-5.27	5.48	5.48	0.80851	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	10	0.87932	D	0	.	16.8495	0.85990	0.0:0.0:1.0:0.0	.	78	P00488	F13A_HUMAN	C	78;78;116	ENSP00000264870:R78C;ENSP00000413334:R78C	ENSP00000264870:R78C	R	-	1	0	F13A1	6250670	1.000000	0.71417	0.344000	0.25628	0.772000	0.43724	7.501000	0.81600	2.572000	0.86782	0.585000	0.79938	CGC		0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		A	6305671	G	A	6305671	3	1	236	1	0	0	0	0	1	0	0	0	5340	1116	39	1	2018	1	F13A1	6	6305671	Missense_Mutation	SNP	G	TCGA-24-1544-01A-01W-0615-10		6305671	164809396	9	13403											
PHIP	55023	hgsc.bcm.edu	37	6	79655099	79655099	+	Silent	SNP	T	T	C	rs199510464		TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr6:79655099T>C	ENST00000275034.4	-	39	4913	c.4746A>G	c.(4744-4746)gaA>gaG	p.E1582E	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1582					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.E1582E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGACTGGCTTTTCCTTTTCCA	0.388													T|||	1	0.000199681	0	0	5008	,	,		16726	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	6											225	211	216					6																	79655099		2203	4300	6503	79711818	SO:0001819	synonymous_variant	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4746A>G	6.37:g.79655099T>C			79711818	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1																																																																																				0.388	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			C	79655099	T	C	79655099	2	2	236	1	0	0	0	0	0	0	0	1	11842	1838	64	4		4	PHIP	6	79655099	Silent	SNP	T	TCGA-24-1544-01A-01W-0615-10	73349428	79655099	91459968	10	13404											
SIM1	6492	hgsc.bcm.edu	37	6	100841521	100841521	+	Missense_Mutation	SNP	C	C	T	rs367796843		TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr6:100841521C>T	ENST00000369208.3	-	11	2194	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	SIM1_ENST00000262901.4_Missense_Mutation_p.R471Q			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	471	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R471Q(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGCCTCACATCGGCCTCCTTC	0.632																																																1	Substitution - Missense(1)	ovary(1)	6											70	69	69					6																	100841521		2203	4300	6503	100948242	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1412G>A	6.37:g.100841521C>T	ENSP00000358210:p.Arg471Gln		100948242	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169655	0.38315	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.33216	1.42;1.42	5.78	4.92	0.64577	Single-minded, C-terminal (2);	0.152609	0.44285	D	0.000470	T	0.10035	0.0246	N	0.19112	0.55	0.41967	D	0.990738	B	0.30211	0.273	B	0.26770	0.073	T	0.06752	-1.0809	10	0.23891	T	0.37	.	16.451	0.83990	0.1325:0.8675:0.0:0.0	.	471	P81133	SIM1_HUMAN	Q	471	ENSP00000358210:R471Q;ENSP00000262901:R471Q	ENSP00000262901:R471Q	R	-	2	0	SIM1	100948242	1.000000	0.71417	0.811000	0.32455	0.097000	0.18754	5.788000	0.69020	1.462000	0.47948	-0.122000	0.15005	CGA		0.632	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		T	100841521	C	T	100841521	3	4	236	1	0	0	0	0	1	0	0	0	14326	884	31	1	896	1	SIM1	6	100841521	Missense_Mutation	SNP	C	TCGA-24-1544-01A-01W-0615-10	21186422	100841521	70273546	11	13405											
PKD1L1	168507	hgsc.bcm.edu	37	7	47852856	47852857	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr7:47852856_47852857delAG	ENST00000289672.2	-	49	7258_7259	c.7208_7209delCT	c.(7207-7209)tctfs	p.S2403fs	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2403					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S2403fs*5(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATGTAGGAATAGAGTCTTCGAT	0.535																																																1	Deletion - Frameshift(1)	ovary(1)	7																																								47819382	SO:0001589	frameshift_variant	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7208_7209delCT	7.37:g.47852858_47852859delAG	ENSP00000289672:p.Ser2403fs		47819381	Q6UWK1	Frame_Shift_Del	DEL	ENST00000289672.2	37	CCDS34633.1																																																																																				0.535	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		-	47852857	AG	-	47852856	7	5	236	1	0	1	0	1	0	0	0	0	11964	407	15	0	1376	0	PKD1L1	7	47852856	Frame_Shift_Del	DEL	AG	TCGA-24-1544-01A-01W-0615-10		47852856	111285807	12	13406											
COL22A1	169044	hgsc.bcm.edu	37	8	139890548	139890548	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr8:139890548C>T	ENST00000303045.6	-	3	549	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	COL22A1_ENST00000435777.1_Missense_Mutation_p.V35I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	35					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V35I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCGTAGTGGACACTTTTGCAA	0.582										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	ovary(1)	8											31	19	23					8																	139890548		2203	4298	6501	139959730	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.103G>A	8.37:g.139890548C>T	ENSP00000303153:p.Val35Ile		139959730	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249257	0.80024	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.78003	-1.14;-1.14	5.29	5.29	0.74685	.	0.000000	0.45126	D	0.000397	D	0.82360	0.5020	L	0.32530	0.975	0.50813	D	0.999892	D	0.64830	0.994	D	0.72625	0.978	T	0.80795	-0.1223	9	.	.	.	.	17.9176	0.88957	0.0:1.0:0.0:0.0	.	35	Q8NFW1	COMA1_HUMAN	I	35	ENSP00000303153:V35I;ENSP00000387655:V35I	.	V	-	1	0	COL22A1	139959730	1.000000	0.71417	0.894000	0.35097	0.844000	0.47949	5.869000	0.69613	2.442000	0.82660	0.650000	0.86243	GTC		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139890548	C	T	139890548	3	4	236	1	0	0	0	0	1	0	0	0	3681	478	17	2	5029	2	COL22A1	8	139890548	Missense_Mutation	SNP	C	TCGA-24-1544-01A-01W-0615-10		139890548	6473474	13	13407											
ZNF462	58499	hgsc.bcm.edu	37	9	109687141	109687141	+	Silent	SNP	C	C	T	rs144035514	byFrequency	TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr9:109687141C>T	ENST00000277225.5	+	3	1237	c.948C>T	c.(946-948)acC>acT	p.T316T	ZNF462_ENST00000457913.1_Silent_p.T316T|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	316					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T316T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCAATACTACCGTCTCCAACT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	9						C		0,4406		0,0,2203	70	66	68		948	0.1	0.6	9	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF462	NM_021224.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		316/2507	109687141	1,13005	2203	4300	6503	108726962	SO:0001819	synonymous_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.948C>T	9.37:g.109687141C>T			108726962	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.522	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		T	109687141	C	T	109687141	2	4	236	1	0	0	0	0	0	0	0	1	17926	639	23	1		1	ZNF462	9	109687141	Silent	SNP	C	TCGA-24-1544-01A-01W-0615-10		109687141	31526290	14	13408											
ANXA7	310	hgsc.bcm.edu	37	10	75138681	75138681	+	Silent	SNP	G	G	A	rs200057519		TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr10:75138681G>A	ENST00000372921.5	-	12	1322	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V	RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000535178.1_Silent_p.V292V	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	444					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.V444V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CACTTCGAGTGACCACAATCC	0.512																																																1	Substitution - coding silent(1)	ovary(1)	10											97	77	84					10																	75138681		2203	4300	6503	74808687	SO:0001819	synonymous_variant	310			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.1266C>T	10.37:g.75138681G>A			74808687	Q5F2H3|Q5T0M6|Q5T0M7	Silent	SNP	ENST00000372921.5	37	CCDS7325.1																																																																																				0.512	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		A	75138681	G	A	75138681	2	1	236	1	0	0	0	0	0	0	0	1	723	1277	45	2		2	ANXA7	10	75138681	Silent	SNP	G	TCGA-24-1544-01A-01W-0615-10		75138681	60396066	15	13409											
F2	2147	hgsc.bcm.edu	37	11	46741372	46741372	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr11:46741372A>T	ENST00000311907.5	+	2	256	c.200A>T	c.(199-201)tAc>tTc	p.Y67F	F2_ENST00000530231.1_Missense_Mutation_p.Y67F	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	67	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.Y67F(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ACGTGCAGCTACGAGGAGGCC	0.672																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)											1	Substitution - Missense(1)	ovary(1)	11											67	48	55					11																	46741372		2200	4294	6494	46697948	SO:0001583	missense	2147			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.200A>T	11.37:g.46741372A>T	ENSP00000308541:p.Tyr67Phe		46697948	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547714	0.86022	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	D;D;D	0.99051	-5.37;-5.37;-5.37	5.34	3.02	0.34903	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.290510	0.39020	N	0.001497	D	0.97498	0.9181	L	0.42529	1.33	0.37037	D	0.896953	B	0.28880	0.226	B	0.39876	0.312	D	0.95969	0.8968	10	0.87932	D	0	.	7.9182	0.29831	0.8327:0.0:0.1673:0.0	.	67	P00734	THRB_HUMAN	F	67;67;57	ENSP00000308541:Y67F;ENSP00000433907:Y67F;ENSP00000387413:Y57F	ENSP00000308541:Y67F	Y	+	2	0	F2	46697948	0.987000	0.35691	0.977000	0.42913	0.746000	0.42486	4.435000	0.59941	0.354000	0.24105	0.379000	0.24179	TAC		0.672	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			T	46741372	A	T	46741372	3	4	236	1	0	0	0	0	1	0	0	0	5342	391	14	5	206	5	F2	11	46741372	Missense_Mutation	SNP	A	TCGA-24-1544-01A-01W-0615-10		46741372	88265144	16	13410											
DUOX2	50506	hgsc.bcm.edu	37	15	45398834	45398834	+	Silent	SNP	G	G	A			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr15:45398834G>A	ENST00000603300.1	-	16	2039	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	DUOX2_ENST00000389039.6_Silent_p.L613L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	613					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.L613L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GAGAGAAGCAGACTCACTGAA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	15											99	98	98					15																	45398834		2198	4298	6496	43186126	SO:0001819	synonymous_variant	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1837C>T	15.37:g.45398834G>A			43186126	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	CCDS10117.1																																																																																				0.537	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45398834	G	A	45398834	2	1	236	1	0	0	0	0	0	0	0	1	4801	933	33	2		2	DUOX2	15	45398834	Silent	SNP	G	TCGA-24-1544-01A-01W-0615-10		45398834	57132558	17	13411											
MVP	9961	hgsc.bcm.edu	37	16	29851523	29851523	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr16:29851523C>A	ENST00000357402.5	+	8	1072	c.934C>A	c.(934-936)Cca>Aca	p.P312T	MVP_ENST00000395353.1_Missense_Mutation_p.P312T|MVP_ENST00000452209.2_Missense_Mutation_p.A126D	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	312					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.P312T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TTTCCTCCAGCCAGGAGAGCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	16											44	45	45					16																	29851523		2197	4300	6497	29759024	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.934C>A	16.37:g.29851523C>A	ENSP00000349977:p.Pro312Thr		29759024	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.06|16.06	3.014455|3.014455	0.54468|0.54468	.|.	.|.	ENSG00000013364|ENSG00000013364	ENST00000452209|ENST00000357402;ENST00000395353	T|T;T	0.63913|0.47528	-0.07|0.84;0.84	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67627|0.67627	0.2913|0.2913	M|M	0.93939|0.93939	3.475|3.475	0.39513|0.39513	D|D	0.968393|0.968393	.|P	.|0.49253	.|0.921	.|P	.|0.47744	.|0.556	T|T	0.79276|0.79276	-0.1870|-0.1870	7|10	0.87932|0.87932	D|D	0|0	-20.8048|-20.8048	16.8849|16.8849	0.86073|0.86073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|312	.|Q14764	.|MVP_HUMAN	D|T	126|312	ENSP00000387916:A126D|ENSP00000349977:P312T;ENSP00000378760:P312T	ENSP00000387916:A126D|ENSP00000349977:P312T	A|P	+|+	2|1	0|0	MVP|MVP	29759024|29759024	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.270000|0.270000	0.26580|0.26580	6.214000|6.214000	0.72200|0.72200	2.577000|2.577000	0.86979|0.86979	0.558000|0.558000	0.71614|0.71614	GCC|CCA		0.602	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		A	29851523	C	A	29851523	3	1	236	1	0	0	0	0	1	0	0	0	9996	739	26	3	960	3	MVP	16	29851523	Missense_Mutation	SNP	C	TCGA-24-1544-01A-01W-0615-10		29851523	60503230	18	13412											
KIAA0182	23199	hgsc.bcm.edu	37	16	85667554	85667554	+	Silent	SNP	G	G	A			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr16:85667554G>A	ENST00000253458.7	+	2	218	c.42G>A	c.(40-42)ggG>ggA	p.G14G	GSE1_ENST00000405402.2_Intron|GSE1_ENST00000393243.1_Intron	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	14								p.G14G(1)									CTTCGCTAGGGATGCTTTCCA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	16											78	88	84					16																	85667554		2198	4300	6498	84225055	SO:0001819	synonymous_variant	23199			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.42G>A	16.37:g.85667554G>A			84225055	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	CCDS10952.1																																																																																				0.657	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		A	85667554	G	A	85667554	2	1	236	1	0	0	0	0	0	0	0	1	8159	1161	41	2		2	KIAA0182	16	85667554	Silent	SNP	G	TCGA-24-1544-01A-01W-0615-10	55816031	85667554	4687199	19	13413											
TP53	7157	hgsc.bcm.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578403	C	A	7578403	3	1	236	1	0	0	0	0	1	0	0	0	16381	710	25	3	771	3	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-24-1544-01A-01W-0615-10		7578403	73616807	20	13414											
MYH3	4621	hgsc.bcm.edu	37	17	10535888	10535888	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr17:10535888C>A	ENST00000583535.1	-	34	4948	c.4861G>T	c.(4861-4863)Ggg>Tgg	p.G1621W	MYH3_ENST00000226209.7_Missense_Mutation_p.G1621W	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1621					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.G1621W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCAGGTCCCCCTCCATCTTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	17											214	210	211					17																	10535888		2203	4300	6503	10476613	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4861G>T	17.37:g.10535888C>A	ENSP00000464317:p.Gly1621Trp		10476613	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680319	0.88542	.	.	ENSG00000109063	ENST00000226209	T	0.78481	-1.18	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.91958	0.7453	H	0.94345	3.525	0.51012	D	0.999907	D	0.56968	0.978	D	0.75020	0.985	D	0.93153	0.6551	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	1621	P11055	MYH3_HUMAN	W	1621	ENSP00000226209:G1621W	ENSP00000226209:G1621W	G	-	1	0	MYH3	10476613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.036000	0.70948	2.885000	0.99019	0.655000	0.94253	GGG		0.587	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		A	10535888	C	A	10535888	3	1	236	1	0	0	0	0	1	0	0	0	10036	623	22	3	993	3	MYH3	17	10535888	Missense_Mutation	SNP	C	TCGA-24-1544-01A-01W-0615-10	2957485	10535888	70659322	21	13415											
ZFP112	7771	hgsc.bcm.edu	37	19	44832145	44832145	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr19:44832145T>C	ENST00000337401.4	-	5	2271	c.2183A>G	c.(2182-2184)aAg>aGg	p.K728R	ZNF112_ENST00000354340.4_Missense_Mutation_p.K722R|ZNF112_ENST00000536500.1_Missense_Mutation_p.K745R	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	728					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K722R(1)									ACTGAAGCCCTTTCCACATAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	19											233	211	218					19																	44832145		2203	4300	6503	49523985	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2183A>G	19.37:g.44832145T>C	ENSP00000337081:p.Lys728Arg		49523985	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.581050	0.65992	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.07688	3.17;3.17;3.17	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33199	N	0.005168	T	0.28001	0.0690	M	0.75884	2.315	0.34156	D	0.668127	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.971;0.987;0.971	T	0.40776	-0.9545	10	0.49607	T	0.09	-23.9688	13.9162	0.63899	0.0:0.0:0.0:1.0	.	727;745;728	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	R	728;728;722;745;727	ENSP00000337081:K728R;ENSP00000346305:K722R;ENSP00000441990:K745R	ENSP00000253426:K727R	K	-	2	0	ZNF285	49523985	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.904000	0.56325	1.994000	0.58287	0.460000	0.39030	AAG		0.433	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		C	44832145	T	C	44832145	3	2	236	1	0	0	0	0	1	0	0	0	17638	1609	56	4	562	4	ZFP112	19	44832145	Missense_Mutation	SNP	T	TCGA-24-1544-01A-01W-0615-10		44832145	14296838	22	13416											
NLRP12	91662	hgsc.bcm.edu	37	19	54310888	54310888	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr19:54310888T>C	ENST00000324134.6	-	4	2272	c.2104A>G	c.(2104-2106)Agt>Ggt	p.S702G	NLRP12_ENST00000391775.3_Missense_Mutation_p.S702G|NLRP12_ENST00000391772.1_Missense_Mutation_p.S703G|NLRP12_ENST00000535162.1_Missense_Mutation_p.S702G|NLRP12_ENST00000354278.3_Missense_Mutation_p.S702G|NLRP12_ENST00000351894.4_Missense_Mutation_p.S702G|NLRP12_ENST00000345770.5_Missense_Mutation_p.S703G|NLRP12_ENST00000391773.1_Missense_Mutation_p.S703G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	702					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.S702G(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGATGTTCACTGTAGGCGTCC	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											106	89	95					19																	54310888		2203	4300	6503	59002700	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2104A>G	19.37:g.54310888T>C	ENSP00000319377:p.Ser702Gly		59002700	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.875521	0.33162	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	3.56	2.4	0.29515	.	0.180201	0.26812	U	0.022365	D	0.88880	0.6557	M	0.63428	1.95	0.80722	D	1	P;P;P;P	0.51351	0.944;0.792;0.856;0.902	P;B;B;P	0.47573	0.48;0.444;0.2;0.55	D	0.84336	0.0524	10	0.13470	T	0.59	.	5.4553	0.16588	0.2495:0.0:0.0:0.7505	.	703;702;702;702	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	G	702;702;702;702;702;703;703;703	ENSP00000319377:S702G;ENSP00000438030:S702G;ENSP00000340473:S702G;ENSP00000346231:S702G;ENSP00000375655:S702G;ENSP00000375653:S703G;ENSP00000375652:S703G	ENSP00000319377:S702G	S	-	1	0	NLRP12	59002700	0.987000	0.35691	0.755000	0.31263	0.150000	0.21749	1.095000	0.30964	1.600000	0.50102	0.397000	0.26171	AGT		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		C	54310888	T	C	54310888	3	2	236	1	0	0	0	0	1	0	0	0	10474	1580	55	4	1205	4	NLRP12	19	54310888	Missense_Mutation	SNP	T	TCGA-24-1544-01A-01W-0615-10	9478743	54310888	4818095	23	13417											
TTC3	7267	hgsc.bcm.edu	37	21	38498393	38498393	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr21:38498393C>T	ENST00000399017.2	+	15	3994	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	TTC3_ENST00000540756.1_Missense_Mutation_p.A106V|TTC3_ENST00000354749.2_Missense_Mutation_p.A416V|TTC3_ENST00000355666.1_Missense_Mutation_p.A416V|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	416					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A416V(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCGGATGAGGCGTTGAAGGTA	0.338																																					Ovarian(38;194 1649 35661)											1	Substitution - Missense(1)	ovary(1)	21											123	119	120					21																	38498393		2203	4300	6503	37420263	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1247C>T	21.37:g.38498393C>T	ENSP00000381981:p.Ala416Val		37420263	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	1.590	-0.529406	0.04112	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.42900	1.16;1.16;1.16;3.1;0.96;3.1;3.1	4.49	-0.798	0.10905	.	1.073890	0.07194	N	0.856292	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B;B	0.21147	0.052;0.002	B;B	0.10450	0.005;0.001	T	0.19910	-1.0291	10	0.25751	T	0.34	-0.0069	5.2221	0.15373	0.1366:0.5075:0.0:0.3559	.	106;416	B4DSZ9;P53804	.;TTC3_HUMAN	V	416;416;398;416;106;416;416	ENSP00000403943:A416V;ENSP00000408456:A416V;ENSP00000391891:A398V;ENSP00000347889:A416V;ENSP00000442875:A106V;ENSP00000381981:A416V;ENSP00000346791:A416V	ENSP00000346791:A416V	A	+	2	0	TTC3	37420263	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.031000	0.13710	-0.381000	0.07882	-0.797000	0.03246	GCG		0.338	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			T	38498393	C	T	38498393	3	4	236	1	0	0	0	0	1	0	0	0	16697	768	27	1	1301	1	TTC3	21	38498393	Missense_Mutation	SNP	C	TCGA-24-1544-01A-01W-0615-10		38498393	9631502	24	13418											
MTMR3	8897	hgsc.bcm.edu	37	22	30416522	30416522	+	Silent	SNP	C	C	T	rs147400483	byFrequency	TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chr22:30416522C>T	ENST00000401950.2	+	17	3216	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.C958C|MTMR3_ENST00000323630.5_Silent_p.C822C|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.C958C|MTMR3_ENST00000406629.1_Silent_p.C958C	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	958					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.C958C(2)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATGGGCATTGCGCCAATGGGG	0.582																																																2	Substitution - coding silent(2)	ovary(2)	22						T	,,	3,4403	6.2+/-15.9	0,3,2200	77	66	70		2874,2874,2874	-1.8	0.6	22	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MTMR3	NM_021090.3,NM_153050.2,NM_153051.2	,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,	958/1199,958/1171,958/1162	30416522	4,13002	2203	4300	6503	28746522	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2874C>T	22.37:g.30416522C>T			28746522	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.582	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		T	30416522	C	T	30416522	2	4	236	1	0	0	0	0	0	0	0	1	9945	776	27	1		1	MTMR3	22	30416522	Silent	SNP	C	TCGA-24-1544-01A-01W-0615-10		30416522	20888044	25	13419											
MAP3K15	389840	hgsc.bcm.edu	37	X	19380930	19380930	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chrX:19380930T>C	ENST00000338883.4	-	26	3604	c.3605A>G	c.(3604-3606)cAg>cGg	p.Q1202R	MAP3K15_ENST00000359173.3_Missense_Mutation_p.Q637R|MAP3K15_ENST00000469203.2_Missense_Mutation_p.Q1034R|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1202							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.Q677R(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGAAGATTCTGGTACTCTCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	X											129	128	128					X																	19380930		2202	4300	6502	19290851	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3605A>G	X.37:g.19380930T>C	ENSP00000345629:p.Gln1202Arg		19290851	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	T	21.8	4.196019	0.78902	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.74632	-0.86;-0.86;-0.85	6.02	6.02	0.97574	.	0.000000	0.64402	U	0.000001	D	0.87253	0.6131	M	0.87180	2.865	0.52099	D	0.999948	D;P	0.67145	0.996;0.847	D;B	0.65874	0.939;0.342	D	0.89234	0.3579	10	0.66056	D	0.02	.	15.4564	0.75318	0.0:0.0:0.0:1.0	.	677;1202	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	R	1202;637;1034	ENSP00000345629:Q1202R;ENSP00000352093:Q637R;ENSP00000428356:Q1034R	ENSP00000345629:Q1202R	Q	-	2	0	MAP3K15	19290851	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	6.794000	0.75135	2.034000	0.60081	0.486000	0.48141	CAG		0.328	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		C	19380930	T	C	19380930	3	2	236	1	0	0	0	0	1	0	0	0	9249	1580	55	4	352	4	MAP3K15	23	19380930	Missense_Mutation	SNP	T	TCGA-24-1544-01A-01W-0615-10		19380930	135889630	26	13420											
HDAC6	10013	hgsc.bcm.edu	37	X	48678567	48678567	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1544-01A-01W-0615-10	TCGA-24-1544-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8aacb774-ca3f-4d4c-a796-805fe660dcee	a74af18e-41bf-4e8e-bb0d-f02aa119e699	g.chrX:48678567C>A	ENST00000334136.5	+	23	2420	c.2242C>A	c.(2242-2244)Ccg>Acg	p.P748T	HDAC6_ENST00000376619.2_Missense_Mutation_p.P748T|HDAC6_ENST00000444343.2_Missense_Mutation_p.P762T			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	748	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.P748T(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACGGGGGGATCCGCTGGGGGG	0.577																																					Pancreas(112;205 1675 2305 8976 15959)											1	Substitution - Missense(1)	ovary(1)	X											66	59	61					X																	48678567		2203	4300	6503	48563511	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2242C>A	X.37:g.48678567C>A	ENSP00000334061:p.Pro748Thr		48563511	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.622287	0.87460	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72051	-0.62;-0.62;-0.62	5.25	5.25	0.73442	Histone deacetylase domain (2);	0.055422	0.64402	D	0.000001	D	0.85465	0.5703	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.97110	1.0;0.995;0.994;1.0	D	0.86577	0.1851	10	0.46703	T	0.11	-24.5302	15.0357	0.71744	0.0:1.0:0.0:0.0	.	738;111;396;748	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	T	762;748;748;748	ENSP00000398566:P762T;ENSP00000334061:P748T;ENSP00000365804:P748T	ENSP00000334061:P748T	P	+	1	0	HDAC6	48563511	1.000000	0.71417	0.916000	0.36221	0.947000	0.59692	6.809000	0.75211	2.432000	0.82394	0.597000	0.82753	CCG		0.577	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		A	48678567	C	A	48678567	3	1	236	1	0	0	0	0	1	0	0	0	7011	855	30	3	2328	3	HDAC6	23	48678567	Missense_Mutation	SNP	C	TCGA-24-1544-01A-01W-0615-10	29297637	48678567	106591993	27	13421											
MRPL9	65005	hgsc.bcm.edu	37	1	151733953	151733953	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr1:151733953T>C	ENST00000368830.3	-	5	646	c.562A>G	c.(562-564)Ata>Gta	p.I188V	OAZ3_ENST00000453029.2_5'Flank|MRPL9_ENST00000467306.1_5'UTR|RP11-98D18.15_ENST00000601684.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000479764.1_5'Flank|OAZ3_ENST00000321531.5_5'Flank|OAZ3_ENST00000315067.8_5'Flank|MRPL9_ENST00000368829.3_Intron	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	188					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I188V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGGGCAACTATTTCAGGGTTC	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											104	97	99					1																	151733953		2203	4300	6503	150000577	SO:0001583	missense	65005			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.562A>G	1.37:g.151733953T>C	ENSP00000357823:p.Ile188Val		150000577	B2RD99|Q5SZR2|Q9BSW8	Missense_Mutation	SNP	ENST00000368830.3	37	CCDS1003.1	.	.	.	.	.	.	.	.	.	.	T	8.698	0.908976	0.17833	.	.	ENSG00000143436	ENST00000368830	T	0.30448	1.53	5.18	4.01	0.46588	.	0.068131	0.64402	D	0.000019	T	0.10465	0.0256	M	0.62723	1.935	0.80722	D	1	B	0.27450	0.179	B	0.24974	0.057	T	0.08743	-1.0707	10	0.02654	T	1	-9.1633	7.8396	0.29391	0.0:0.0949:0.0:0.9051	.	188	Q9BYD2	RM09_HUMAN	V	188	ENSP00000357823:I188V	ENSP00000357823:I188V	I	-	1	0	MRPL9	150000577	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.362000	0.44169	2.161000	0.67846	0.482000	0.46254	ATA		0.463	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		C	151733953	T	C	151733953	3	2	237	1	0	0	0	0	1	0	0	0	9820	1493	52	4	253	4	MRPL9	1	151733953	Missense_Mutation	SNP	T	TCGA-24-1545-01A-01W-0615-10		151733953	97516668	1	13422											
LRP1B	53353	hgsc.bcm.edu	37	2	141460038	141460038	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr2:141460038G>C	ENST00000389484.3	-	38	7079	c.6108C>G	c.(6106-6108)agC>agG	p.S2036R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2036					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S2036R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTATTCCCATGCTTACAAGGA	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											116	107	110					2																	141460038		2203	4300	6503	141176508	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6108C>G	2.37:g.141460038G>C	ENSP00000374135:p.Ser2036Arg		141176508	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205632	0.79127	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96459	-4.02	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.116598	0.56097	U	0.000022	D	0.96219	0.8767	M	0.71036	2.16	0.43642	D	0.996048	P	0.46784	0.884	P	0.47528	0.549	D	0.96213	0.9154	10	0.56958	D	0.05	.	14.7161	0.69269	0.0:0.0:0.8545:0.1455	.	2036	Q9NZR2	LRP1B_HUMAN	R	2036;1974	ENSP00000374135:S2036R	ENSP00000374135:S2036R	S	-	3	2	LRP1B	141176508	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.976000	0.56867	2.554000	0.86153	0.557000	0.71058	AGC		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141460038	G	C	141460038	3	2	237	1	0	0	0	0	1	0	0	0	8955	1310	46	3	7907	3	LRP1B	2	141460038	Missense_Mutation	SNP	G	TCGA-24-1545-01A-01W-0615-10		141460038	101739335	2	13423											
PIKFYVE	200576	hgsc.bcm.edu	37	2	209200816	209200816	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr2:209200816G>A	ENST00000264380.4	+	27	4570	c.4412G>A	c.(4411-4413)aGg>aAg	p.R1471K	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1471					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.R1471K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGCAAGCAAGGCTCATGTCT	0.458																																																1	Substitution - Missense(1)	ovary(1)	2											137	127	130					2																	209200816		2203	4300	6503	208909061	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4412G>A	2.37:g.209200816G>A	ENSP00000264380:p.Arg1471Lys		208909061	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938082	0.52972	.	.	ENSG00000115020	ENST00000264380	T	0.34275	1.37	5.35	5.35	0.76521	.	0.053378	0.85682	D	0.000000	T	0.22820	0.0551	N	0.19112	0.55	0.80722	D	1	D	0.54601	0.967	B	0.40602	0.334	T	0.09228	-1.0684	10	0.02654	T	1	-15.9231	19.0295	0.92950	0.0:0.0:1.0:0.0	.	1471	Q9Y2I7	FYV1_HUMAN	K	1471	ENSP00000264380:R1471K	ENSP00000264380:R1471K	R	+	2	0	PIKFYVE	208909061	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	9.388000	0.97237	2.677000	0.91161	0.561000	0.74099	AGG		0.458	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		A	209200816	G	A	209200816	3	1	237	1	0	0	0	0	1	0	0	0	11924	1000	35	2	4525	2	PIKFYVE	2	209200816	Missense_Mutation	SNP	G	TCGA-24-1545-01A-01W-0615-10	67740778	209200816	33998557	3	13424											
WDR70	55100	hgsc.bcm.edu	37	5	37703068	37703068	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr5:37703068G>C	ENST00000265107.4	+	13	1451	c.1295G>C	c.(1294-1296)aGt>aCt	p.S432T	RNU6-484P_ENST00000384016.1_RNA|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	432							enzyme binding (GO:0019899)	p.S432T(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCTGTTTCAGTCCAGATGAT	0.383																																																1	Substitution - Missense(1)	ovary(1)	5											106	100	102					5																	37703068		2203	4300	6503	37738825	SO:0001583	missense	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1295G>C	5.37:g.37703068G>C	ENSP00000265107:p.Ser432Thr		37738825	Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995830	0.93167	.	.	ENSG00000082068	ENST00000265107	T	0.01871	4.59	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.097331	0.64402	D	0.000002	T	0.18551	0.0445	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00451	-1.1731	10	0.87932	D	0	-2.1834	19.6155	0.95632	0.0:0.0:1.0:0.0	.	432	Q9NW82	WDR70_HUMAN	T	432	ENSP00000265107:S432T	ENSP00000265107:S432T	S	+	2	0	WDR70	37738825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.891000	0.92485	2.801000	0.96364	0.650000	0.86243	AGT		0.383	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		C	37703068	G	C	37703068	3	2	237	1	0	0	0	0	1	0	0	0	17321	1029	36	3	1345	3	WDR70	5	37703068	Missense_Mutation	SNP	G	TCGA-24-1545-01A-01W-0615-10		37703068	143212192	4	13425											
COL11A2	1302	hgsc.bcm.edu	37	6	33132638	33132638	+	Silent	SNP	G	G	A	rs151319255	byFrequency	TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr6:33132638G>A	ENST00000374708.4	-	62	4854	c.4596C>T	c.(4594-4596)gaC>gaT	p.D1532D	COL11A2_ENST00000357486.1_Silent_p.D1597D|COL11A2_ENST00000341947.2_Silent_p.D1618D|COL11A2_ENST00000374713.1_Silent_p.D1571D|COL11A2_ENST00000361917.1_Silent_p.D1511D|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Silent_p.D1537D|COL11A2_ENST00000395197.1_Silent_p.D1558D|COL11A2_ENST00000374714.1_Silent_p.D1592D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1618					cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D1618D(1)|p.D1618E(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTGCGTGACGTCATCCCTAG	0.622													G|||	2	0.000399361	0	0	5008	,	,		14507	0		0	False		,,,				2504	0.002				Melanoma(1;90 116 3946 5341 17093)											2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|prostate(1)	6											62	55	57					6																	33132638		2201	4291	6492	33240616	SO:0001819	synonymous_variant	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4596C>T	6.37:g.33132638G>A			33240616	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	CCDS43452.1																																																																																				0.622	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			A	33132638	G	A	33132638	2	1	237	1	0	0	0	0	0	0	0	1	3668	1136	40	1		1	COL11A2	6	33132638	Silent	SNP	G	TCGA-24-1545-01A-01W-0615-10		33132638	137982429	5	13426											
TET1	80312	hgsc.bcm.edu	37	10	70426853	70426853	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr10:70426853C>T	ENST00000373644.4	+	7	4722	c.4513C>T	c.(4513-4515)Cgt>Tgt	p.R1505C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1505					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R1505C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTCCGGCAGCGTACAGGCCA	0.463																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	10											112	100	104					10																	70426853		2203	4300	6503	70096859	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4513C>T	10.37:g.70426853C>T	ENSP00000362748:p.Arg1505Cys		70096859	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269285	0.80469	.	.	ENSG00000138336	ENST00000373644	T	0.42513	0.97	5.3	4.4	0.53042	TET cysteine-rich domain (1);	0.059737	0.64402	N	0.000007	T	0.64068	0.2565	M	0.75884	2.315	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.69143	-0.5223	10	0.87932	D	0	.	14.0874	0.64968	0.0:0.9274:0.0:0.0726	.	1505	Q8NFU7	TET1_HUMAN	C	1505	ENSP00000362748:R1505C	ENSP00000362748:R1505C	R	+	1	0	TET1	70096859	1.000000	0.71417	0.920000	0.36463	0.944000	0.59088	4.956000	0.63645	1.364000	0.46038	0.650000	0.86243	CGT		0.463	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		T	70426853	C	T	70426853	3	4	237	1	0	0	0	0	1	0	0	0	15769	768	27	1	4535	1	TET1	10	70426853	Missense_Mutation	SNP	C	TCGA-24-1545-01A-01W-0615-10		70426853	65107894	6	13427											
TRIM68	55128	hgsc.bcm.edu	37	11	4622020	4622020	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr11:4622020C>T	ENST00000300747.5	-	7	1233	c.944G>A	c.(943-945)cGt>cAt	p.R315H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	315	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R315H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACGATGAGACGGGAGTAAGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											78	73	74					11																	4622020		2201	4298	6499	4578596	SO:0001583	missense	55128			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.944G>A	11.37:g.4622020C>T	ENSP00000300747:p.Arg315His		4578596	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301328	0.40694	.	.	ENSG00000167333	ENST00000300747;ENST00000544055;ENST00000526337	T;T	0.04603	3.59;3.59	5.52	1.21	0.21127	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.517604	0.18114	N	0.151264	T	0.01558	0.0050	N	0.02973	-0.45	0.19300	N	0.999972	P	0.49090	0.919	B	0.41646	0.362	T	0.35051	-0.9804	10	0.15499	T	0.54	.	0.8424	0.01153	0.1628:0.3847:0.1581:0.2945	.	315	Q6AZZ1	TRI68_HUMAN	H	315;36;92	ENSP00000300747:R315H;ENSP00000434681:R92H	ENSP00000300747:R315H	R	-	2	0	TRIM68	4578596	0.000000	0.05858	0.940000	0.37924	0.623000	0.37688	0.445000	0.21677	0.752000	0.32923	0.561000	0.74099	CGT		0.498	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		T	4622020	C	T	4622020	3	4	237	1	0	0	0	0	1	0	0	0	16541	536	19	1	517	1	TRIM68	11	4622020	Missense_Mutation	SNP	C	TCGA-24-1545-01A-01W-0615-10		4622020	130384496	7	13428											
LRP5	4041	hgsc.bcm.edu	37	11	68115539	68115539	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr11:68115539G>A	ENST00000294304.7	+	2	422	c.316G>A	c.(316-318)Ggc>Agc	p.G106S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	106	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G106S(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTCATCTCCGGCCTGGTCTC	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											119	103	108					11																	68115539		2200	4294	6494	67872115	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.316G>A	11.37:g.68115539G>A	ENSP00000294304:p.Gly106Ser		67872115	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561852	0.65538	.	.	ENSG00000162337	ENST00000294304	D	0.92699	-3.09	3.95	3.95	0.45737	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.49916	U	0.000136	D	0.95063	0.8401	M	0.70108	2.13	0.80722	D	1	D	0.62365	0.991	D	0.65773	0.938	D	0.95082	0.8214	10	0.49607	T	0.09	.	16.58	0.84712	0.0:0.0:1.0:0.0	.	106	O75197	LRP5_HUMAN	S	106	ENSP00000294304:G106S	ENSP00000294304:G106S	G	+	1	0	LRP5	67872115	1.000000	0.71417	0.919000	0.36401	0.053000	0.15095	9.534000	0.98061	2.186000	0.69663	0.561000	0.74099	GGC		0.632	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		A	68115539	G	A	68115539	3	1	237	1	0	0	0	0	1	0	0	0	8960	1116	39	1	322	1	LRP5	11	68115539	Missense_Mutation	SNP	G	TCGA-24-1545-01A-01W-0615-10	63493519	68115539	66890977	8	13429											
IGHMBP2	3508	hgsc.bcm.edu	37	11	68703762	68703762	+	Frame_Shift_Del	DEL	G	G	-	rs141107419		TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr11:68703762delG	ENST00000255078.3	+	13	1925	c.1814delG	c.(1813-1815)cgafs	p.R606fs	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	606					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.R605fs*19(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCCGTGCCCGACGCCACGTG	0.537																																																1	Deletion - Frameshift(1)	ovary(1)	11											159	154	156					11																	68703762		2200	4294	6494	68460338	SO:0001589	frameshift_variant	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1814delG	11.37:g.68703762delG	ENSP00000255078:p.Arg606fs		68460338	A0PJD2|Q00443|Q14177	Frame_Shift_Del	DEL	ENST00000255078.3	37	CCDS8187.1																																																																																				0.537	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		-	68703762	G	-	68703762	7	5	237	1	0	1	0	1	0	0	0	0	7591	1058	37	0	1864	0	IGHMBP2	11	68703762	Frame_Shift_Del	DEL	G	TCGA-24-1545-01A-01W-0615-10	588223	68703762	66302754	9	13430											
VSIG2	23584	hgsc.bcm.edu	37	11	124618611	124618611	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr11:124618611G>A	ENST00000326621.5	-	5	735	c.635C>T	c.(634-636)tCg>tTg	p.S212L	VSIG2_ENST00000403470.1_Missense_Mutation_p.S212L|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	212	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.S212L(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GTAGGTGCCCGAGGAGGTCAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	11											142	114	124					11																	124618611		2201	4299	6500	124123821	SO:0001583	missense	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.635C>T	11.37:g.124618611G>A	ENSP00000318684:p.Ser212Leu		124123821	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621516	0.87460	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.69306	-0.39;-0.39	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	D	0.84991	0.5595	H	0.94222	3.51	0.43259	D	0.995198	D	0.65815	0.995	P	0.62382	0.901	D	0.88401	0.3015	10	0.72032	D	0.01	.	14.6271	0.68629	0.0:0.0:1.0:0.0	.	212	Q96IQ7	VSIG2_HUMAN	L	212	ENSP00000318684:S212L;ENSP00000385013:S212L	ENSP00000318684:S212L	S	-	2	0	VSIG2	124123821	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	5.461000	0.66699	2.835000	0.97688	0.591000	0.81541	TCG		0.587	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		A	124618611	G	A	124618611	3	1	237	1	0	0	0	0	1	0	0	0	17224	1059	37	1	360	1	VSIG2	11	124618611	Missense_Mutation	SNP	G	TCGA-24-1545-01A-01W-0615-10	55914849	124618611	10387905	10	13431											
B3GAT1	27087	hgsc.bcm.edu	37	11	134257523	134257523	+	Missense_Mutation	SNP	C	C	T	rs144109297		TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr11:134257523C>T	ENST00000524765.1	-	2	4575	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	B3GAT1_ENST00000392580.1_Missense_Mutation_p.V11I|B3GAT1_ENST00000312527.4_Missense_Mutation_p.V11I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V24I			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	11					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.V11I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		ACGATGAGGACGATCGCTAGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	11						C	ILE/VAL,ILE/VAL	0,4402		0,0,2201	151	106	122		31,31	1.4	0.9	11	dbSNP_134	122	2,8592	2.2+/-6.3	0,2,4295	yes	missense,missense	B3GAT1	NM_018644.3,NM_054025.2	29,29	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	11/335,11/335	134257523	2,12994	2201	4297	6498	133762733	SO:0001583	missense	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.31G>A	11.37:g.134257523C>T	ENSP00000433847:p.Val11Ile		133762733	Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040842	0.55003	0.0	2.33E-4	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.65178	-0.12;-0.12;-0.12;-0.14	4.38	1.44	0.22558	.	0.195514	0.43747	N	0.000524	T	0.35307	0.0927	N	0.12182	0.205	0.49483	D	0.999795	B;B	0.16166	0.002;0.016	B;B	0.09377	0.003;0.004	T	0.04664	-1.0935	10	0.15499	T	0.54	.	6.6376	0.22891	0.1444:0.6987:0.0:0.1569	.	24;11	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	I	11;11;11;24	ENSP00000376359:V11I;ENSP00000307875:V11I;ENSP00000433847:V11I;ENSP00000445983:V24I	ENSP00000307875:V11I	V	-	1	0	B3GAT1	133762733	0.933000	0.31639	0.928000	0.36995	0.995000	0.86356	0.477000	0.22196	0.132000	0.18615	0.561000	0.74099	GTC		0.627	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		T	134257523	C	T	134257523	3	4	237	1	0	0	0	0	1	0	0	0	1253	536	19	1	989	1	B3GAT1	11	134257523	Missense_Mutation	SNP	C	TCGA-24-1545-01A-01W-0615-10	9638912	134257523	748993	11	13432											
SLCO1C1	53919	hgsc.bcm.edu	37	12	20876071	20876071	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr12:20876071C>A	ENST00000266509.2	+	9	1437	c.1069C>A	c.(1069-1071)Cta>Ata	p.L357I	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.L308I|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.L357I|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.L357I|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.L239I	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	357					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L357I(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AGTATACTTCCTATATTTATG	0.378																																																1	Substitution - Missense(1)	ovary(1)	12											177	163	168					12																	20876071		2203	4300	6503	20767338	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1069C>A	12.37:g.20876071C>A	ENSP00000266509:p.Leu357Ile		20767338	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	9.584	1.124368	0.20959	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	4.48	0.624	0.17659	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.157646	0.42548	D	0.000687	T	0.38772	0.1053	L	0.42632	1.34	0.39761	D	0.972028	P;B;B;P	0.42375	0.778;0.176;0.338;0.476	P;B;B;P	0.47786	0.55;0.401;0.401;0.557	T	0.12811	-1.0533	10	0.30854	T	0.27	.	9.792	0.40710	0.0:0.563:0.0:0.437	.	239;308;357;357	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	I	357;308;357;357;239	ENSP00000444149:L357I;ENSP00000438665:L308I;ENSP00000266509:L357I;ENSP00000370964:L357I;ENSP00000444527:L239I	ENSP00000266509:L357I	L	+	1	2	SLCO1C1	20767338	0.000000	0.05858	0.878000	0.34440	0.356000	0.29392	-0.733000	0.04898	0.020000	0.15106	0.561000	0.74099	CTA		0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		A	20876071	C	A	20876071	3	1	237	1	0	0	0	0	1	0	0	0	14728	680	24	3	1099	3	SLCO1C1	12	20876071	Missense_Mutation	SNP	C	TCGA-24-1545-01A-01W-0615-10		20876071	112975824	12	13433											
TBX5	6910	hgsc.bcm.edu	37	12	114832691	114832691	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr12:114832691A>T	ENST00000310346.4	-	6	1184	c.518T>A	c.(517-519)cTa>cAa	p.L173Q	TBX5_ENST00000349716.5_Missense_Mutation_p.L123Q|TBX5_ENST00000526441.1_Missense_Mutation_p.L173Q|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.L173Q	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	173					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L173P(1)|p.L173Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CATGGAATTTAGAATAATCTA	0.373																																					NSCLC(152;1358 1980 4050 23898 40356)											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)	12											116	128	124					12																	114832691		2203	4300	6503	113317074	SO:0001583	missense	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.518T>A	12.37:g.114832691A>T	ENSP00000309913:p.Leu173Gln		113317074	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663265	0.88251	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.75	5.75	0.90469	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99679	1.0998	10	0.87932	D	0	.	16.3473	0.83146	1.0:0.0:0.0:0.0	.	173;173	Q99593-2;Q99593	.;TBX5_HUMAN	Q	123;173;70;173;173	ENSP00000337723:L123Q;ENSP00000309913:L173Q;ENSP00000384152:L173Q;ENSP00000433292:L173Q	ENSP00000309913:L173Q	L	-	2	0	TBX5	113317074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.320000	0.78422	0.528000	0.53228	CTA		0.373	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		T	114832691	A	T	114832691	3	4	237	1	0	0	0	0	1	0	0	0	15661	420	15	5	1121	5	TBX5	12	114832691	Missense_Mutation	SNP	A	TCGA-24-1545-01A-01W-0615-10	93956620	114832691	19019204	13	13434											
XYLT1	64131	hgsc.bcm.edu	37	16	17228351	17228351	+	Missense_Mutation	SNP	G	G	A	rs371783636		TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr16:17228351G>A	ENST00000261381.6	-	9	2090	c.2006C>T	c.(2005-2007)aCg>aTg	p.T669M	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	669					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.T669M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCCCATCCGTGTGCAGGGA	0.617																																																1	Substitution - Missense(1)	ovary(1)	16						G	MET/THR	1,4393	2.1+/-5.4	0,1,2196	64	57	60		2006	3.3	0.1	16		60	0,8600		0,0,4300	no	missense	XYLT1	NM_022166.3	81	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	possibly-damaging	669/960	17228351	1,12993	2197	4300	6497	17135852	SO:0001583	missense	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2006C>T	16.37:g.17228351G>A	ENSP00000261381:p.Thr669Met		17135852	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171459	0.57584	2.28E-4	0.0	ENSG00000103489	ENST00000261381	T	0.04551	3.6	5.33	3.32	0.38043	.	0.430288	0.27886	N	0.017441	T	0.05502	0.0145	N	0.22421	0.69	0.25659	N	0.986029	D	0.62365	0.991	P	0.49332	0.607	T	0.28808	-1.0032	10	0.48119	T	0.1	-6.3273	8.8551	0.35223	0.0805:0.0:0.7721:0.1474	.	669	Q86Y38	XYLT1_HUMAN	M	669	ENSP00000261381:T669M	ENSP00000261381:T669M	T	-	2	0	XYLT1	17135852	0.997000	0.39634	0.054000	0.19295	0.824000	0.46624	3.315000	0.51951	0.579000	0.29504	0.561000	0.74099	ACG		0.617	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		A	17228351	G	A	17228351	3	1	237	1	0	0	0	0	1	0	0	0	17463	1145	40	1	889	1	XYLT1	16	17228351	Missense_Mutation	SNP	G	TCGA-24-1545-01A-01W-0615-10		17228351	73126402	14	13435											
TP53	7157	hgsc.bcm.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs397516437|rs28934573		TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		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"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	17	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	7518284	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.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr		7518284	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	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577559	G	T	7577559	3	4	237	1	0	0	0	0	1	0	0	0	16381	1174	41	3	568	3	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-24-1545-01A-01W-0615-10		7577559	73617651	15	13436											
KIF2B	84643	hgsc.bcm.edu	37	17	51900722	51900722	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr17:51900722C>T	ENST00000268919.4	+	1	484	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	110					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R110C(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGGGACCAGCGTACCGCCAC	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											81	88	85					17																	51900722		2203	4300	6503	49255721	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.328C>T	17.37:g.51900722C>T	ENSP00000268919:p.Arg110Cys		49255721	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	2.916	-0.224173	0.06061	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75154	-0.91	5.11	-9.22	0.00675	.	1.490870	0.04423	N	0.367975	T	0.45816	0.1361	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.34004	-0.9846	10	0.66056	D	0.02	.	1.6774	0.02824	0.3952:0.2646:0.0831:0.2571	.	110	Q8N4N8	KIF2B_HUMAN	C	110;33	ENSP00000268919:R110C	ENSP00000268919:R110C	R	+	1	0	KIF2B	49255721	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.348000	0.02629	-1.483000	0.01858	-2.606000	0.00160	CGT		0.602	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51900722	C	T	51900722	3	4	237	1	0	0	0	0	1	0	0	0	8298	768	27	1	330	1	KIF2B	17	51900722	Missense_Mutation	SNP	C	TCGA-24-1545-01A-01W-0615-10	44323163	51900722	29294488	16	13437											
VAV1	7409	hgsc.bcm.edu	37	19	6832147	6832147	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr19:6832147T>C	ENST00000602142.1	+	15	1526	c.1444T>C	c.(1444-1446)Tat>Cat	p.Y482H	VAV1_ENST00000539284.1_Missense_Mutation_p.Y385H|VAV1_ENST00000596764.1_Missense_Mutation_p.Y450H|VAV1_ENST00000599806.1_Missense_Mutation_p.Y427H|VAV1_ENST00000304076.2_Missense_Mutation_p.Y482H	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	482	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y482H(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGCCCAGGGCTATGAGCTGTT	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											150	115	127					19																	6832147		2203	4300	6503	6783147	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1444T>C	19.37:g.6832147T>C	ENSP00000472929:p.Tyr482His		6783147	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935065	0.73442	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.77098	-1.07;-1.07	4.88	4.88	0.63580	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.83843	0.5342	M	0.62723	1.935	0.58432	D	0.999995	D;D;D;D	0.69078	0.994;0.997;0.985;0.996	D;D;D;D	0.72338	0.931;0.972;0.977;0.977	T	0.80834	-0.1205	10	0.18276	T	0.48	.	12.7023	0.57041	0.0:0.0:0.0:1.0	.	385;482;427;482	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	H	482;385	ENSP00000302269:Y482H;ENSP00000443242:Y385H	ENSP00000302269:Y482H	Y	+	1	0	VAV1	6783147	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.054000	0.76649	1.956000	0.56807	0.379000	0.24179	TAT		0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			C	6832147	T	C	6832147	3	2	237	1	0	0	0	0	1	0	0	0	17131	1522	53	4	1502	4	VAV1	19	6832147	Missense_Mutation	SNP	T	TCGA-24-1545-01A-01W-0615-10		6832147	52296836	17	13438											
ZNF432	9668	hgsc.bcm.edu	37	19	52543795	52543795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr19:52543795G>A	ENST00000594154.1	-	4	396	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ZNF432_ENST00000597273.1_Nonsense_Mutation_p.R62*|ZNF432_ENST00000221315.5_Nonsense_Mutation_p.R62*			O94892	ZN432_HUMAN	zinc finger protein 432	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.R62*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTTCTCCTCGTTCCAACTTG	0.438																																																1	Substitution - Nonsense(1)	ovary(1)	19											281	209	234					19																	52543795		2203	4300	6503	57235607	SO:0001587	stop_gained	9668			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.184C>T	19.37:g.52543795G>A	ENSP00000470488:p.Arg62*		57235607		Nonsense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	G	37	6.059310	0.97246	.	.	ENSG00000256087	ENST00000221315	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	8.6342	0.33936	0.0:0.0:0.7717:0.2283	.	.	.	.	X	62	.	ENSP00000221315:R62X	R	-	1	2	ZNF432	57235607	0.119000	0.22226	0.402000	0.26371	0.517000	0.34286	1.706000	0.37878	1.935000	0.56089	0.655000	0.94253	CGA		0.438	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		A	52543795	G	A	52543795	4	1	237	1	0	0	0	0	0	1	0	0	17906	1153	40	1	1782	1	ZNF432	19	52543795	Nonsense_Mutation	SNP	G	TCGA-24-1545-01A-01W-0615-10	45711648	52543795	6585188	18	13439											
ZNF132	7691	hgsc.bcm.edu	37	19	58945403	58945403	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1545-01A-01W-0615-10	TCGA-24-1545-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6fcbf641-1923-47c7-a4fb-6a9ca419569b	0df6fb20-969f-4101-894d-52433d0733fd	g.chr19:58945403G>C	ENST00000254166.3	-	3	1808	c.1408C>G	c.(1408-1410)Caa>Gaa	p.Q470E	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	470					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.Q470E(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGGGAGCTTTGGCTGAAGTCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	19											98	96	97					19																	58945403		2203	4300	6503	63637215	SO:0001583	missense	7691			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1408C>G	19.37:g.58945403G>C	ENSP00000254166:p.Gln470Glu		63637215	Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147418	0.37923	.	.	ENSG00000131849	ENST00000254166	T	0.15834	2.39	3.79	1.38	0.22167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	L	0.38692	1.165	0.09310	N	1	P	0.50156	0.932	B	0.41088	0.347	T	0.18555	-1.0333	9	0.31617	T	0.26	.	7.6509	0.28348	0.0969:0.0:0.7428:0.1603	.	470	P52740	ZN132_HUMAN	E	470	ENSP00000254166:Q470E	ENSP00000254166:Q470E	Q	-	1	0	ZNF132	63637215	0.000000	0.05858	0.080000	0.20451	0.996000	0.88848	-1.085000	0.03390	0.695000	0.31675	0.655000	0.94253	CAA		0.468	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		C	58945403	G	C	58945403	3	2	237	1	0	0	0	0	1	0	0	0	17722	1357	47	3	716	3	ZNF132	19	58945403	Missense_Mutation	SNP	G	TCGA-24-1545-01A-01W-0615-10	6401608	58945403	183580	19	13440											
EDEM1	9695	hgsc.bcm.edu	37	3	5249831	5249831	+	Silent	SNP	C	C	T			TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr3:5249831C>T	ENST00000256497.4	+	8	1525	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A	EDEM1_ENST00000445686.1_Silent_p.A269A	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	464					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.A464A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTACTATGCCATATGGAAAC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	3											242	204	217					3																	5249831		2203	4300	6503	5224831	SO:0001819	synonymous_variant	9695			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1392C>T	3.37:g.5249831C>T			5224831	A8K9C8|B4DXP3	Silent	SNP	ENST00000256497.4	37	CCDS33686.1																																																																																				0.502	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		T	5249831	C	T	5249831	2	4	238	1	0	0	0	0	0	0	0	1	4911	581	21	2		2	EDEM1	3	5249831	Silent	SNP	C	TCGA-24-1546-01A-01W-0615-10		5249831	192772599	1	13441											
ATP13A5	344905	hgsc.bcm.edu	37	3	193081108	193081108	+	Missense_Mutation	SNP	G	G	T	rs373214053		TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr3:193081108G>T	ENST00000342358.4	-	3	418	c.301C>A	c.(301-303)Cct>Act	p.P101T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	101						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.P101T(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTGCTTACAGGAAACTTCAGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	3											103	101	102					3																	193081108		2203	4300	6503	194563802	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.301C>A	3.37:g.193081108G>T	ENSP00000341942:p.Pro101Thr		194563802	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370367	0.42003	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.17691	2.26;2.26	5.02	5.02	0.67125	.	0.091218	0.48767	D	0.000173	T	0.11836	0.0288	N	0.12182	0.205	0.43175	D	0.994989	B	0.17038	0.02	B	0.25405	0.06	T	0.17930	-1.0353	10	0.23891	T	0.37	-5.8421	16.7236	0.85416	0.0:0.0:1.0:0.0	.	101	Q4VNC0	AT135_HUMAN	T	101;123	ENSP00000341942:P101T;ENSP00000389416:P123T	ENSP00000341942:P101T	P	-	1	0	ATP13A5	194563802	0.078000	0.21339	0.981000	0.43875	0.723000	0.41478	1.494000	0.35616	2.742000	0.94016	0.650000	0.86243	CCT		0.408	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		T	193081108	G	T	193081108	3	4	238	1	0	0	0	0	1	0	0	0	1127	1174	41	3	3465	3	ATP13A5	3	193081108	Missense_Mutation	SNP	G	TCGA-24-1546-01A-01W-0615-10	187831277	193081108	4941322	2	13442			1	8		2	2	15	G		5.426908e-06
ATP13A5	344905	hgsc.bcm.edu	37	3	193081122	193081122	+	Missense_Mutation	SNP	G	G	T	rs12637558	byFrequency	TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr3:193081122G>T	ENST00000342358.4	-	3	404	c.287C>A	c.(286-288)tCc>tAc	p.S96Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	96			S -> Y (in dbSNP:rs12637558). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.S96F(1)|p.S96Y(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTCAGTGTGGATAAGTAGAG	0.398													G|||	2083	0.415935	0.2133	0.4337	5008	,	,		18153	0.5764		0.4125	False		,,,				2504	0.5153															2	Substitution - Missense(2)	ovary(1)|NS(1)	3						G	TYR/SER	1146,3260	409.1+/-334.9	155,836,1212	98	96	97		287	4.2	1	3	dbSNP_120	97	3666,4934	527.1+/-381.1	807,2052,1441	yes	missense	ATP13A5	NM_198505.2	144	962,2888,2653	TT,TG,GG		42.6279,26.01,36.9983	probably-damaging	96/1219	193081122	4812,8194	2203	4300	6503	194563816	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.287C>A	3.37:g.193081122G>T	ENSP00000341942:p.Ser96Tyr		194563816	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	893	0.4088827838827839	119	0.241869918699187	143	0.39502762430939226	323	0.5646853146853147	308	0.40633245382585753	G	16.92	3.255259	0.59321	0.2601	0.426279	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.44881	0.91;0.91	5.06	4.17	0.49024	.	0.195010	0.36893	N	0.002353	T	0.00012	0.0000	M	0.73962	2.25	0.29320	P	0.867429	P	0.36733	0.567	B	0.41764	0.366	T	0.48980	-0.8986	9	0.59425	D	0.04	-6.0887	13.2983	0.60311	0.0:0.0:0.84:0.16	rs12637558;rs59613984	96	Q4VNC0	AT135_HUMAN	Y	96;118	ENSP00000341942:S96Y;ENSP00000389416:S118Y	ENSP00000341942:S96Y	S	-	2	0	ATP13A5	194563816	1.000000	0.71417	0.987000	0.45799	0.953000	0.61014	3.546000	0.53656	1.428000	0.47296	0.655000	0.94253	TCC		0.398	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		T	193081122	G	T	193081122	3	4	238	1	0	0	0	0	1	0	0	0	1127	1174	41	3	3479	3	ATP13A5	3	193081122	Missense_Mutation	SNP	G	TCGA-24-1546-01A-01W-0615-10	14	193081122	4941308	3	13443			1	8		2	2	15	G		5.426908e-06
PCDHGC4	56098	hgsc.bcm.edu	37	5	140866165	140866165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr5:140866165C>A	ENST00000306593.1	+	1	1425	c.1425C>A	c.(1423-1425)tgC>tgA	p.C475*	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C475*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGCTTTGCTCCCTTGCAG	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	5											101	102	102					5																	140866165		2203	4300	6503	140846349	SO:0001587	stop_gained	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1425C>A	5.37:g.140866165C>A	ENSP00000306918:p.Cys475*		140846349	Q495T2|Q9Y5C3	Nonsense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642920	0.87859	.	.	ENSG00000242419	ENST00000306593	.	.	.	5.41	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	4.0751	0.09901	0.1534:0.5157:0.0:0.3309	.	.	.	.	X	475	.	ENSP00000306918:C475X	C	+	3	2	PCDHGC4	140846349	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.012000	0.13287	0.209000	0.20645	0.467000	0.42956	TGC		0.488	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		A	140866165	C	A	140866165	4	1	238	1	0	0	0	0	0	1	0	0	11570	805	28	3	1427	3	PCDHGC4	5	140866165	Nonsense_Mutation	SNP	C	TCGA-24-1546-01A-01W-0615-10		140866165	40049095	4	13444											
CSMD3	114788	hgsc.bcm.edu	37	8	113697844	113697844	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr8:113697844C>T	ENST00000297405.5	-	15	2517	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	758	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R758Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGATGTATCCGGCTCCCTGG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											99	107	104					8																	113697844		2203	4299	6502	113767020	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2273G>A	8.37:g.113697844C>T	ENSP00000297405:p.Arg758Gln		113767020	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606831	0.87157	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.96	5.96	0.96718	CUB (5);	0.000000	0.64402	D	0.000002	T	0.40297	0.1111	L	0.56199	1.76	0.43145	D	0.994906	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.994;0.998;0.999	T	0.00970	-1.1496	10	0.34782	T	0.22	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	654;758;718	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	718;758;98;654;758	ENSP00000345799:R718Q;ENSP00000297405:R758Q;ENSP00000341558:R98Q;ENSP00000412263:R654Q;ENSP00000343124:R758Q	ENSP00000297405:R758Q	R	-	2	0	CSMD3	113767020	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGG		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113697844	C	T	113697844	3	4	238	1	0	0	0	0	1	0	0	0	3946	652	23	1	9078	1	CSMD3	8	113697844	Missense_Mutation	SNP	C	TCGA-24-1546-01A-01W-0615-10		113697844	32666178	5	13445											
LRP1	4035	hgsc.bcm.edu	37	12	57567113	57567113	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr12:57567113A>G	ENST00000243077.3	+	21	3792	c.3326A>G	c.(3325-3327)aAg>aGg	p.K1109R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1109	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.K1109R(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCAGTGTCAAGTTTGGCTGC	0.592											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											77	64	68					12																	57567113		2203	4300	6503	55853380	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3326A>G	12.37:g.57567113A>G	ENSP00000243077:p.Lys1109Arg	1024	55853380	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.878413	0.91740	.	.	ENSG00000123384	ENST00000243077	D	0.95518	-3.73	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.95364	0.8495	L	0.28115	0.83	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95147	0.8269	10	0.42905	T	0.14	.	13.9015	0.63806	1.0:0.0:0.0:0.0	.	1109	Q07954	LRP1_HUMAN	R	1109	ENSP00000243077:K1109R	ENSP00000243077:K1109R	K	+	2	0	LRP1	55853380	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.097000	0.94193	2.117000	0.64856	0.459000	0.35465	AAG		0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		G	57567113	A	G	57567113	3	3	238	1	0	0	0	0	1	0	0	0	8951	72	3	4	3408	4	LRP1	12	57567113	Missense_Mutation	SNP	A	TCGA-24-1546-01A-01W-0615-10		57567113	76284782	6	13446											
DCC	1630	hgsc.bcm.edu	37	18	50976947	50976947	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr18:50976947G>T	ENST00000442544.2	+	23	3923	c.3307G>T	c.(3307-3309)Gtg>Ttg	p.V1103L	DCC_ENST00000581580.1_Missense_Mutation_p.V738L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1103					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.V1103L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTGATCATTGTGGTCACCGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	18											140	112	122					18																	50976947		2203	4300	6503	49230945	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3307G>T	18.37:g.50976947G>T	ENSP00000389140:p.Val1103Leu		49230945		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113306	0.56398	.	.	ENSG00000187323	ENST00000442544	T	0.50001	0.76	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	T	0.45296	0.1335	L	0.47716	1.5	0.52099	D	0.999945	P	0.37276	0.589	B	0.36378	0.223	T	0.38373	-0.9664	10	0.41790	T	0.15	-7.8909	18.5478	0.91053	0.0:0.0:1.0:0.0	.	1103	P43146	DCC_HUMAN	L	1103	ENSP00000389140:V1103L	ENSP00000389140:V1103L	V	+	1	0	DCC	49230945	1.000000	0.71417	0.961000	0.40146	0.917000	0.54804	6.119000	0.71590	2.684000	0.91462	0.650000	0.86243	GTG		0.532	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		T	50976947	G	T	50976947	3	4	238	1	0	0	0	0	1	0	0	0	4282	1377	48	3	3397	3	DCC	18	50976947	Missense_Mutation	SNP	G	TCGA-24-1546-01A-01W-0615-10		50976947	27100301	7	13447											
VAV1	7409	hgsc.bcm.edu	37	19	6829836	6829836	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr19:6829836G>T	ENST00000602142.1	+	14	1387	c.1305G>T	c.(1303-1305)aaG>aaT	p.K435N	VAV1_ENST00000304076.2_Missense_Mutation_p.K435N|VAV1_ENST00000596764.1_Missense_Mutation_p.K403N|VAV1_ENST00000539284.1_Missense_Mutation_p.K338N|VAV1_ENST00000599806.1_Missense_Mutation_p.K380N	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	435	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K435N(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCATCTGTAAGCGCAGGGGAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											151	123	132					19																	6829836		2203	4300	6503	6780836	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1305G>T	19.37:g.6829836G>T	ENSP00000472929:p.Lys435Asn		6780836	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598222	0.66332	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.91740	-2.9;-2.9	4.82	-3.4	0.04853	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.79123	2.44	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.998;1.0	D	0.92114	0.5698	10	0.87932	D	0	.	9.9883	0.41854	0.6873:0.0:0.3127:0.0	.	338;435;380;435	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	N	435;338	ENSP00000302269:K435N;ENSP00000443242:K338N	ENSP00000302269:K435N	K	+	3	2	VAV1	6780836	1.000000	0.71417	0.954000	0.39281	0.926000	0.56050	0.657000	0.24963	-0.288000	0.09051	-0.766000	0.03442	AAG		0.537	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			T	6829836	G	T	6829836	3	4	238	1	0	0	0	0	1	0	0	0	17131	962	34	3	1359	3	VAV1	19	6829836	Missense_Mutation	SNP	G	TCGA-24-1546-01A-01W-0615-10		6829836	52299147	8	13448											
SF4	57794	hgsc.bcm.edu	37	19	19427283	19427283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr19:19427283G>A	ENST00000247001.5	-	2	501	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	SUGP1_ENST00000334782.5_Nonsense_Mutation_p.Q52*|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	52					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.Q52*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTGGCTTTCTGTTCCATTTTG	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	19											179	126	144					19																	19427283		2203	4300	6503	19288283	SO:0001587	stop_gained	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.154C>T	19.37:g.19427283G>A	ENSP00000247001:p.Gln52*		19288283	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Nonsense_Mutation	SNP	ENST00000247001.5	37	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867529	0.91587	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	.	.	.	4.87	4.87	0.63330	.	0.123330	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.9301	0.86188	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000247001:Q52X	Q	-	1	0	SUGP1	19288283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.799000	0.62517	2.421000	0.82119	0.555000	0.69702	CAG		0.532	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		A	19427283	G	A	19427283	4	1	238	1	0	0	0	0	0	1	0	0	14158	1386	48	2	1835	2	SF4	19	19427283	Nonsense_Mutation	SNP	G	TCGA-24-1546-01A-01W-0615-10	12597447	19427283	39701700	9	13449											
NLRP4	147945	hgsc.bcm.edu	37	19	56369244	56369244	+	Missense_Mutation	SNP	C	C	T	rs117212164	byFrequency	TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chr19:56369244C>T	ENST00000301295.6	+	3	907	c.485C>T	c.(484-486)aCg>aTg	p.T162M	NLRP4_ENST00000587891.1_Missense_Mutation_p.T87M|NLRP4_ENST00000346986.5_Missense_Mutation_p.T162M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	162	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T162M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATTGGAAAAACGACACTCCTG	0.483													C|||	4	0.000798722	0	0	5008	,	,		20730	0		0.004	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19						C	MET/THR	4,4402	9.9+/-24.2	0,4,2199	132	118	122		485	4.1	0	19	dbSNP_133	122	39,8561	26.3+/-74.7	0,39,4261	yes	missense	NLRP4	NM_134444.4	81	0,43,6460	TT,TC,CC		0.4535,0.0908,0.3306	probably-damaging	162/995	56369244	43,12963	2203	4300	6503	61061056	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.485C>T	19.37:g.56369244C>T	ENSP00000301295:p.Thr162Met		61061056	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	18.10	3.547856	0.65311	9.08E-4	0.004535	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.92805	-3.11;-3.11	4.09	4.09	0.47781	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.94450	0.8214	M	0.82517	2.595	0.37152	D	0.902209	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.95580	0.8645	9	0.87932	D	0	.	14.1967	0.65675	0.0:1.0:0.0:0.0	.	87;162	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	M	162	ENSP00000301295:T162M;ENSP00000344787:T162M	ENSP00000301295:T162M	T	+	2	0	NLRP4	61061056	0.965000	0.33210	0.012000	0.15200	0.005000	0.04900	3.954000	0.56708	2.277000	0.76020	0.655000	0.94253	ACG		0.483	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56369244	C	T	56369244	3	4	238	1	0	0	0	0	1	0	0	0	10479	536	19	1	491	1	NLRP4	19	56369244	Missense_Mutation	SNP	C	TCGA-24-1546-01A-01W-0615-10	36941961	56369244	2759739	10	13450											
ARSE	415	hgsc.bcm.edu	37	X	2861125	2861125	+	Silent	SNP	G	G	T			TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chrX:2861125G>T	ENST00000381134.3	-	8	1173	c.1107C>A	c.(1105-1107)ggC>ggA	p.G369G	ARSE_ENST00000540563.1_Silent_p.G324G|ARSE_ENST00000545496.1_Silent_p.G394G	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	369					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.G369G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCATTCCAGCCACCATACT	0.468																																																1	Substitution - coding silent(1)	ovary(1)	X											104	100	101					X																	2861125		2203	4300	6503	2871125	SO:0001819	synonymous_variant	415			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1107C>A	X.37:g.2861125G>T			2871125	Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	CCDS14122.1																																																																																				0.468	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		T	2861125	G	T	2861125	2	4	238	1	0	0	0	0	0	0	0	1	990	958	34	3		3	ARSE	23	2861125	Silent	SNP	G	TCGA-24-1546-01A-01W-0615-10		2861125	152409435	11	13451											
TAF1	6872	hgsc.bcm.edu	37	X	70601607	70601607	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1546-01A-01W-0615-10	TCGA-24-1546-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6bf554da-cc72-4daf-9287-a44792c87b8f	a70e1da0-e64d-472d-bdcf-dca6624e490f	g.chrX:70601607C>G	ENST00000373790.4	+	9	1423	c.1372C>G	c.(1372-1374)Ctt>Gtt	p.L458V	TAF1_ENST00000276072.3_Missense_Mutation_p.L479V|TAF1_ENST00000423759.1_Missense_Mutation_p.L479V|TAF1_ENST00000449580.1_Missense_Mutation_p.L458V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	458					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.L458V(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGCAGCCACTCTTGATGATGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	X											145	117	127					X																	70601607		2203	4300	6503	70518332	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1372C>G	X.37:g.70601607C>G	ENSP00000362895:p.Leu458Val		70518332	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	7.668	0.686372	0.14973	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09445	2.98;3.04;3.04;2.98	5.3	2.53	0.30540	.	0.346876	0.28883	N	0.013836	T	0.07324	0.0185	L	0.39898	1.24	0.25800	N	0.984513	B;B	0.16166	0.016;0.012	B;B	0.20384	0.027;0.029	T	0.39313	-0.9620	10	0.14252	T	0.57	.	4.3224	0.11023	0.1597:0.5811:0.0:0.2592	.	458;479	P21675;P21675-2	TAF1_HUMAN;.	V	458;458;479;479	ENSP00000362895:L458V;ENSP00000389000:L458V;ENSP00000406549:L479V;ENSP00000276072:L479V	ENSP00000276072:L479V	L	+	1	0	TAF1	70518332	0.046000	0.20272	0.552000	0.28243	0.954000	0.61252	0.432000	0.21461	0.420000	0.25954	0.594000	0.82650	CTT		0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		G	70601607	C	G	70601607	3	3	238	1	0	0	0	0	1	0	0	0	15513	913	32	3	1469	3	TAF1	23	70601607	Missense_Mutation	SNP	C	TCGA-24-1546-01A-01W-0615-10	67740482	70601607	84668953	12	13452											
UBR4	23352	hgsc.bcm.edu	37	1	19454183	19454183	+	Silent	SNP	T	T	G			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr1:19454183T>G	ENST00000375254.3	-	63	9189	c.9162A>C	c.(9160-9162)gtA>gtC	p.V3054V	UBR4_ENST00000375217.2_Silent_p.V3047V|UBR4_ENST00000375226.2_Silent_p.V3030V|UBR4_ENST00000375267.2_Silent_p.V3054V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3054					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V3054V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTCTCATTACTACCAGATGGA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	1											174	167	170					1																	19454183		2203	4300	6503	19326770	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9162A>C	1.37:g.19454183T>G			19326770	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.478	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19454183	T	G	19454183	2	3	239	1	0	0	0	0	0	0	0	1	16904	1509	53	5		5	UBR4	1	19454183	Silent	SNP	T	TCGA-24-1548-01A-01W-0615-10		19454183	229796438	1	13453											
C1orf173	127254	hgsc.bcm.edu	37	1	75038387	75038387	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr1:75038387C>A	ENST00000326665.5	-	14	3225	c.3007G>T	c.(3007-3009)Gca>Tca	p.A1003S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1003	Glu-rich.							p.A1003S(1)|p.A1003T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATCCGGCTTGCCTCTGCCTCT	0.532																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											103	93	96					1																	75038387		2203	4300	6503	74810975	SO:0001583	missense	127254																														ENST00000326665.5:c.3007G>T	1.37:g.75038387C>A	ENSP00000322609:p.Ala1003Ser		74810975	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858791	0.51376	.	.	ENSG00000178965	ENST00000326665	T	0.25749	1.78	4.33	2.38	0.29361	.	.	.	.	.	T	0.05640	0.0148	L	0.40543	1.245	0.09310	N	1	B	0.29432	0.244	B	0.28638	0.092	T	0.38499	-0.9658	9	0.09590	T	0.72	-0.4034	6.0902	0.19991	0.155:0.6594:0.0:0.1856	.	1003	Q5RHP9	CA173_HUMAN	S	1003	ENSP00000322609:A1003S	ENSP00000322609:A1003S	A	-	1	0	C1orf173	74810975	0.000000	0.05858	0.032000	0.17829	0.025000	0.11179	0.062000	0.14389	0.947000	0.37659	0.462000	0.41574	GCA		0.532	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			A	75038387	C	A	75038387	3	1	239	1	0	0	0	0	1	0	0	0	2014	739	26	3	1589	3	C1orf173	1	75038387	Missense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10	55584204	75038387	174212234	2	13454											
FCRL6	343413	hgsc.bcm.edu	37	1	159779317	159779317	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr1:159779317G>A	ENST00000368106.3	+	5	731	c.730G>A	c.(730-732)Gat>Aat	p.D244N	FCRL6_ENST00000321935.6_Missense_Mutation_p.D251N|FCRL6_ENST00000392235.3_Missense_Mutation_p.D149N|FCRL6_ENST00000339348.5_Missense_Mutation_p.D244N	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	244	Ig-like C2-type 3.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D244N(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CTTCTACCTTGATGAGAAGAT	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											75	71	72					1																	159779317		2203	4300	6503	158045941	SO:0001583	missense	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.730G>A	1.37:g.159779317G>A	ENSP00000357086:p.Asp244Asn		158045941	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	g	8.977	0.974361	0.18736	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	3.91	-6.2	0.02072	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.142910	0.06898	N	0.805548	T	0.02533	0.0077	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.32573	0.001;0.376;0.058;0.081	B;B;B;B	0.35607	0.02;0.206;0.047;0.046	T	0.38436	-0.9661	9	.	.	.	.	6.3187	0.21204	0.6714:0.0:0.1878:0.1408	.	244;149;244;251	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	N	251;244;149;244	ENSP00000320625:D251N;ENSP00000340949:D244N;ENSP00000376068:D149N;ENSP00000357086:D244N	.	D	+	1	0	FCRL6	158045941	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.737000	0.04877	-1.251000	0.02494	-0.958000	0.02645	GAT		0.587	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		A	159779317	G	A	159779317	3	1	239	1	0	0	0	0	1	0	0	0	5799	1290	45	2	748	2	FCRL6	1	159779317	Missense_Mutation	SNP	G	TCGA-24-1548-01A-01W-0615-10	84740930	159779317	89471304	3	13455											
USH2A	7399	hgsc.bcm.edu	37	1	215901473	215901473	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr1:215901473C>T	ENST00000307340.3	-	61	12351	c.11965G>A	c.(11965-11967)Gaa>Aaa	p.E3989K	USH2A_ENST00000366943.2_Missense_Mutation_p.E3989K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3989	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E3989K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGAGATTCTGGCTTTGTC	0.483										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											127	122	124					1																	215901473		2203	4300	6503	213968096	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11965G>A	1.37:g.215901473C>T	ENSP00000305941:p.Glu3989Lys		213968096	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	5.968	0.362510	0.11296	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56611	0.45;0.45	5.25	3.37	0.38596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.005240	0.08018	N	0.991569	T	0.44138	0.1279	L	0.52823	1.66	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.40478	-0.9561	10	0.06625	T	0.88	.	8.1213	0.30974	0.0:0.7256:0.1313:0.1431	.	3989	O75445	USH2A_HUMAN	K	3989	ENSP00000305941:E3989K;ENSP00000355910:E3989K	ENSP00000305941:E3989K	E	-	1	0	USH2A	213968096	0.000000	0.05858	0.522000	0.27862	0.983000	0.72400	0.079000	0.14782	0.590000	0.29694	0.591000	0.81541	GAA		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215901473	C	T	215901473	3	4	239	1	0	0	0	0	1	0	0	0	17036	922	32	2	3691	2	USH2A	1	215901473	Missense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10	56122156	215901473	33349148	4	13456											
RGS7	6000	hgsc.bcm.edu	37	1	241262044	241262044	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr1:241262044G>A	ENST00000407727.1	-	2	96	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	RGS7_ENST00000366563.1_Missense_Mutation_p.R33W|RGS7_ENST00000331110.7_Missense_Mutation_p.R7W|RGS7_ENST00000446183.2_De_novo_Start_InFrame|RGS7_ENST00000348120.2_Missense_Mutation_p.R33W|RGS7_ENST00000366564.1_Missense_Mutation_p.R33W|RGS7_ENST00000401882.1_Missense_Mutation_p.R33W|RGS7_ENST00000366562.4_Missense_Mutation_p.R33W|RGS7_ENST00000366565.1_Missense_Mutation_p.R33W			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	33					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R33W(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTGCATCCGTGCTATGACG	0.333																																																1	Substitution - Missense(1)	ovary(1)	1											158	139	146					1																	241262044		2203	4300	6503	239328667	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.97C>T	1.37:g.241262044G>A	ENSP00000384428:p.Arg33Trp		239328667	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	G	18.87	3.715590	0.68844	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T	0.34072	1.45;1.39;1.4;1.4;1.38;1.4;1.39;1.38	5.18	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.998	P;D;D;D;P	0.64042	0.836;0.921;0.921;0.921;0.827	T	0.48410	-0.9038	10	0.87932	D	0	-10.6163	11.3547	0.49609	0.0:0.0:0.8186:0.1814	.	7;33;33;33;33	B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.	W	7;33;33;33;33;33;33;33	ENSP00000331485:R7W;ENSP00000355523:R33W;ENSP00000355522:R33W;ENSP00000355521:R33W;ENSP00000341242:R33W;ENSP00000355520:R33W;ENSP00000384428:R33W;ENSP00000385508:R33W	ENSP00000331485:R7W	R	-	1	2	RGS7	239328667	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.378000	0.73150	1.289000	0.44618	0.655000	0.94253	CGG		0.333	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		A	241262044	G	A	241262044	3	1	239	1	0	0	0	0	1	0	0	0	13313	1144	40	1	1430	1	RGS7	1	241262044	Missense_Mutation	SNP	G	TCGA-24-1548-01A-01W-0615-10	25360571	241262044	7988577	5	13457											
LRP1B	53353	hgsc.bcm.edu	37	2	141777630	141777630	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr2:141777630T>G	ENST00000389484.3	-	12	2802	c.1831A>C	c.(1831-1833)Aat>Cat	p.N611H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	611					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.N611H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAGATTATTTCCAATCCAG	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											108	107	107					2																	141777630		2203	4300	6503	141494100	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1831A>C	2.37:g.141777630T>G	ENSP00000374135:p.Asn611His		141494100	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474181	0.26423	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96554	-4.05	5.14	2.69	0.31865	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.065576	0.64402	U	0.000016	D	0.92338	0.7569	L	0.41124	1.26	0.42572	D	0.993183	B	0.14438	0.01	B	0.19391	0.025	D	0.85962	0.1471	10	0.39692	T	0.17	.	8.184	0.31328	0.0:0.0705:0.1344:0.7951	.	611	Q9NZR2	LRP1B_HUMAN	H	611;549	ENSP00000374135:N611H	ENSP00000374135:N611H	N	-	1	0	LRP1B	141494100	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.209000	0.42806	0.334000	0.23590	-0.388000	0.06559	AAT		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141777630	T	G	141777630	3	3	239	1	0	0	0	0	1	0	0	0	8955	1841	64	5	12288	5	LRP1B	2	141777630	Missense_Mutation	SNP	T	TCGA-24-1548-01A-01W-0615-10		141777630	101421743	6	13458											
SPHKAP	80309	hgsc.bcm.edu	37	2	228886428	228886428	+	Splice_Site	SNP	G	G	A			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr2:228886428G>A	ENST00000392056.3	-	6	742	c.696C>T	c.(694-696)aaC>aaT	p.N232N	SPHKAP_ENST00000344657.5_Splice_Site_p.N232N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	232						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.N232N(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTCTCACCGTTCCTAGATT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	2											85	89	88					2																	228886428		2203	4300	6503	228594672	SO:0001630	splice_region_variant	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.697+1C>T	2.37:g.228886428G>A			228594672	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	Silent	A	228886428	G	A	228886428	5	1	239	1	0	0	0	0	0	0	1	0	15050	1159	40	1	4434	1	SPHKAP	2	228886428	Splice_Site	SNP	G	TCGA-24-1548-01A-01W-0615-10	87108798	228886428	14312945	7	13459											
RTP1	132112	hgsc.bcm.edu	37	3	186917434	186917434	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr3:186917434T>C	ENST00000312295.4	+	2	398	c.368T>C	c.(367-369)gTg>gCg	p.V123A	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	123					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.V123A(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCGGGCTCGGTGCGCATGCGC	0.657																																																1	Substitution - Missense(1)	ovary(1)	3											41	41	41					3																	186917434		2203	4297	6500	188400128	SO:0001583	missense	132112			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.368T>C	3.37:g.186917434T>C	ENSP00000311712:p.Val123Ala		188400128		Missense_Mutation	SNP	ENST00000312295.4	37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002656	0.74932	.	.	ENSG00000175077	ENST00000312295	T	0.24350	1.86	5.7	4.54	0.55810	.	0.054864	0.64402	D	0.000001	T	0.45577	0.1349	M	0.71581	2.175	0.24665	N	0.993442	D	0.71674	0.998	D	0.71870	0.975	T	0.36089	-0.9762	10	0.62326	D	0.03	.	8.4502	0.32866	0.0:0.0879:0.0:0.9121	.	123	P59025	RTP1_HUMAN	A	123	ENSP00000311712:V123A	ENSP00000311712:V123A	V	+	2	0	RTP1	188400128	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.235000	0.51328	1.005000	0.39183	0.459000	0.35465	GTG		0.657	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		C	186917434	T	C	186917434	3	2	239	1	0	0	0	0	1	0	0	0	13736	1696	59	4	374	4	RTP1	3	186917434	Missense_Mutation	SNP	T	TCGA-24-1548-01A-01W-0615-10		186917434	11104996	8	13460											
ZNF518B	85460	hgsc.bcm.edu	37	4	10446084	10446084	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr4:10446084C>G	ENST00000326756.3	-	3	2307	c.1869G>C	c.(1867-1869)agG>agC	p.R623S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	623					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R623S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGTTGTTAGTCCTTTCAGAAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	4											137	137	137					4																	10446084		2203	4300	6503	10055182	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1869G>C	4.37:g.10446084C>G	ENSP00000317614:p.Arg623Ser		10055182	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318912	0.23994	.	.	ENSG00000178163	ENST00000326756	T	0.01438	4.89	6.06	0.46	0.16684	.	0.964866	0.08541	N	0.930553	T	0.00784	0.0026	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.48670	-0.9015	10	0.06625	T	0.88	-8.0171	0.8048	0.01082	0.255:0.3419:0.2154:0.1878	.	623	Q9C0D4	Z518B_HUMAN	S	623	ENSP00000317614:R623S	ENSP00000317614:R623S	R	-	3	2	ZNF518B	10055182	0.900000	0.30661	0.000000	0.03702	0.243000	0.25628	1.267000	0.33050	0.324000	0.23333	0.655000	0.94253	AGG		0.403	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		G	10446084	C	G	10446084	3	3	239	1	0	0	0	0	1	0	0	0	17963	854	30	3	1359	3	ZNF518B	4	10446084	Missense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10		10446084	180708192	9	13461											
GABRG1	2565	hgsc.bcm.edu	37	4	46053582	46053582	+	Silent	SNP	C	C	T			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr4:46053582C>T	ENST00000295452.4	-	8	1157	c.990G>A	c.(988-990)gtG>gtA	p.V330V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	330					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V330V(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCATCGCAGTCACATAAGAAA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	4											104	96	98					4																	46053582		2203	4300	6503	45748339	SO:0001819	synonymous_variant	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.990G>A	4.37:g.46053582C>T			45748339	Q5H9T8	Silent	SNP	ENST00000295452.4	37	CCDS3470.1																																																																																				0.378	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		T	46053582	C	T	46053582	2	4	239	1	0	0	0	0	0	0	0	1	6171	813	29	2		2	GABRG1	4	46053582	Silent	SNP	C	TCGA-24-1548-01A-01W-0615-10	35607498	46053582	145100694	10	13462											
GUCY1A3	2982	hgsc.bcm.edu	37	4	156631727	156631727	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr4:156631727G>A	ENST00000296518.7	+	6	619	c.410G>A	c.(409-411)gGt>gAt	p.G137D	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.G137D|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.G137D|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.G137D|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.G137D|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.G137D|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	137					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.G137D(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAATCTCTTGGTGAAGAGGTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	4											70	76	74					4																	156631727		2202	4300	6502	156851177	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.410G>A	4.37:g.156631727G>A	ENSP00000296518:p.Gly137Asp		156851177	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888389	0.91814	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.55	5.55	0.83447	Heme-NO binding (1);	0.000000	0.64402	D	0.000005	D	0.93785	0.8013	M	0.78456	2.415	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.79108	0.987;0.987;0.992	D	0.93900	0.7187	10	0.87932	D	0	.	19.8522	0.96745	0.0:0.0:1.0:0.0	.	137;137;137	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	D	137	ENSP00000424361:G137D;ENSP00000421493:G137D;ENSP00000426968:G137D;ENSP00000412201:G137D;ENSP00000296518:G137D;ENSP00000426040:G137D	ENSP00000296518:G137D	G	+	2	0	GUCY1A3	156851177	1.000000	0.71417	0.880000	0.34516	0.980000	0.70556	9.062000	0.93920	2.769000	0.95229	0.637000	0.83480	GGT		0.393	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			A	156631727	G	A	156631727	3	1	239	1	0	0	0	0	1	0	0	0	6894	1261	44	2	424	2	GUCY1A3	4	156631727	Missense_Mutation	SNP	G	TCGA-24-1548-01A-01W-0615-10	110578145	156631727	34522549	11	13463											
FBXO24	26261	hgsc.bcm.edu	37	7	100190453	100190453	+	Silent	SNP	C	C	T	rs374971411		TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr7:100190453C>T	ENST00000241071.6	+	5	928	c.606C>T	c.(604-606)taC>taT	p.Y202Y	FBXO24_ENST00000427939.2_Silent_p.Y240Y|FBXO24_ENST00000465843.1_Silent_p.Y188Y|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.Y188Y|FBXO24_ENST00000468962.1_Silent_p.Y190Y	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	202					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.Y202Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AATACCTCTACGTCTTGGCCA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	7						T	,,	1,4405	826.1+/-416.6	0,1,2202	63	59	61		570,720,606	-6.9	0.7	7		61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	FBXO24	NM_001163499.1,NM_012172.4,NM_033506.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	190/569,240/619,202/581	100190453	1,13005	2203	4300	6503	100028389	SO:0001819	synonymous_variant	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.606C>T	7.37:g.100190453C>T			100028389	A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	CCDS5698.1																																																																																				0.567	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			T	100190453	C	T	100190453	2	4	239	1	0	0	0	0	0	0	0	1	5735	547	19	1		1	FBXO24	7	100190453	Silent	SNP	C	TCGA-24-1548-01A-01W-0615-10		100190453	58948210	12	13464											
ITIH5	80760	hgsc.bcm.edu	37	10	7618969	7618969	+	Nonsense_Mutation	SNP	G	G	C	rs148515073		TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr10:7618969G>C	ENST00000256861.6	-	10	1503	c.1425C>G	c.(1423-1425)taC>taG	p.Y475*	ITIH5_ENST00000397146.2_Nonsense_Mutation_p.Y475*|ITIH5_ENST00000446830.2_Nonsense_Mutation_p.Y257*|ITIH5_ENST00000298441.6_Nonsense_Mutation_p.Y261*|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Nonsense_Mutation_p.Y475*	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	475	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y475*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGATTTCATCGTAGAACCTGC	0.577																																																1	Substitution - Nonsense(1)	ovary(1)	10											47	47	47					10																	7618969		2203	4300	6503	7658975	SO:0001587	stop_gained	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1425C>G	10.37:g.7618969G>C	ENSP00000256861:p.Tyr475*		7658975	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Nonsense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	19.08	3.757129	0.69648	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	.	.	.	5.57	-3.72	0.04411	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.0563	14.8167	0.70039	0.6925:0.0:0.3075:0.0	.	.	.	.	X	475;475;261;257;475	.	ENSP00000256861:Y475X	Y	-	3	2	ITIH5	7658975	0.003000	0.15002	0.757000	0.31301	0.112000	0.19704	-1.135000	0.03225	-1.214000	0.02614	-0.448000	0.05591	TAC		0.577	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		C	7618969	G	C	7618969	4	2	239	1	0	0	0	0	0	1	0	0	7907	1140	40	3	1546	3	ITIH5	10	7618969	Nonsense_Mutation	SNP	G	TCGA-24-1548-01A-01W-0615-10		7618969	127915778	13	13465											
CUBN	8029	hgsc.bcm.edu	37	10	16992051	16992051	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr10:16992051G>C	ENST00000377833.4	-	34	5094	c.5029C>G	c.(5029-5031)Cgt>Ggt	p.R1677G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1677	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R1677G(1)|p.R1677C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAAGTCACGTGCACACGTT	0.463																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	10											82	74	77					10																	16992051		2203	4300	6503	17032057	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5029C>G	10.37:g.16992051G>C	ENSP00000367064:p.Arg1677Gly		17032057	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	9.109	1.005988	0.19199	.	.	ENSG00000107611	ENST00000377833	T	0.17854	2.25	6.08	1.95	0.26073	CUB (5);	2.072390	0.03210	N	0.176109	T	0.13970	0.0338	L	0.33668	1.02	0.09310	N	1	P	0.41624	0.757	B	0.39419	0.299	T	0.17198	-1.0377	10	0.27082	T	0.32	.	4.2995	0.10918	0.0676:0.2297:0.314:0.3888	.	1677	O60494	CUBN_HUMAN	G	1677	ENSP00000367064:R1677G	ENSP00000367064:R1677G	R	-	1	0	CUBN	17032057	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.866000	0.27954	0.097000	0.17492	-0.175000	0.13238	CGT		0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16992051	G	C	16992051	3	2	239	1	0	0	0	0	1	0	0	0	4051	1145	40	3	5978	3	CUBN	10	16992051	Missense_Mutation	SNP	G	TCGA-24-1548-01A-01W-0615-10	9373082	16992051	118542696	14	13466											
CHST15	51363	hgsc.bcm.edu	37	10	125780792	125780794	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr10:125780792_125780794delTGT	ENST00000346248.5	-	6	1967_1969	c.1325_1327delACA	c.(1324-1329)aacacc>acc	p.N442del	CHST15_ENST00000421115.1_In_Frame_Del_p.N442del|CHST15_ENST00000435907.1_In_Frame_Del_p.N442del	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	442					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.N442delN(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTGTTGAGGGTGTTGTTGTAGAC	0.537																																																1	Deletion - In frame(1)	ovary(1)	10																																								125770784	SO:0001651	inframe_deletion	51363			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1325_1327delACA	10.37:g.125780798_125780800delTGT	ENSP00000333947:p.Asn442del		125770782	O60338|O60474|Q86VM4	In_Frame_Del	DEL	ENST00000346248.5	37	CCDS7638.1																																																																																				0.537	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		-	125780794	TGT	-	125780792	7	5	239	1	0	1	0	1	0	0	0	0	3403	1696	59	0	370	0	CHST15	10	125780792	In_Frame_Del	DEL	TGT	TCGA-24-1548-01A-01W-0615-10	108788741	125780792	9753955	15	13467											
NPAS4	266743	hgsc.bcm.edu	37	11	66191485	66191487	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr11:66191485_66191487delTCC	ENST00000311034.2	+	7	1300_1302	c.1124_1126delTCC	c.(1123-1128)ttcccc>tcc	p.375_376FP>S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	375					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.F375_P376>S(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCACCAGCTTCCCCAGTGCTCC	0.547																																																1	Complex - deletion inframe(1)	ovary(1)	11																																								65948063	SO:0001651	inframe_deletion	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1124_1126delTCC	11.37:g.66191485_66191487delTCC	ENSP00000311196:p.Phe375_Pro376delinsSer		65948061	B7ZL81|Q8N8S5|Q8N9Q9	In_Frame_Del	DEL	ENST00000311034.2	37	CCDS8138.1																																																																																				0.547	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		-	66191487	TCC	-	66191485	7	5	239	1	0	1	0	1	0	0	0	0	10565	1783	62	0	1150	0	NPAS4	11	66191485	In_Frame_Del	DEL	TCC	TCGA-24-1548-01A-01W-0615-10		66191485	68815031	16	13468											
PAH	5053	hgsc.bcm.edu	37	12	103237492	103237492	+	Silent	SNP	G	G	A			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr12:103237492G>A	ENST00000553106.1	-	11	1603	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	PAH_ENST00000307000.2_Silent_p.Y372Y	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	377			Y -> C (in PKU; haplotype 4).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.Y377Y(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCGTGACAGTGTAATTTTGGA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	12											107	103	104					12																	103237492		2203	4300	6503	101761622	SO:0001819	synonymous_variant	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1131C>T	12.37:g.103237492G>A			101761622	Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	CCDS9092.1																																																																																				0.478	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			A	103237492	G	A	103237492	2	1	239	1	0	0	0	0	0	0	0	1	11394	1372	48	2		2	PAH	12	103237492	Silent	SNP	G	TCGA-24-1548-01A-01W-0615-10		103237492	30614403	17	13469											
DUOX1	53905	hgsc.bcm.edu	37	15	45436386	45436386	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr15:45436386C>G	ENST00000321429.4	+	18	2496	c.2089C>G	c.(2089-2091)Cgt>Ggt	p.R697G	DUOX1_ENST00000561166.1_Missense_Mutation_p.R343G|DUOX1_ENST00000389037.3_Missense_Mutation_p.R697G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	697					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.R697G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GTCCAGCAACCGTGGACGCCG	0.622																																																1	Substitution - Missense(1)	ovary(1)	15											89	73	78					15																	45436386		2198	4298	6496	43223678	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2089C>G	15.37:g.45436386C>G	ENSP00000317997:p.Arg697Gly		43223678	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025756	0.35701	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	.	0.631546	0.17728	N	0.163990	D	0.82857	0.5128	L	0.58101	1.795	0.45621	D	0.998551	B	0.27068	0.167	B	0.30495	0.116	T	0.77621	-0.2519	10	0.17832	T	0.49	-0.7754	15.688	0.77426	0.0:1.0:0.0:0.0	.	697	Q9NRD9	DUOX1_HUMAN	G	697	ENSP00000317997:R697G;ENSP00000373689:R697G	ENSP00000317997:R697G	R	+	1	0	DUOX1	43223678	0.866000	0.29940	0.992000	0.48379	0.678000	0.39670	1.656000	0.37355	2.631000	0.89168	0.655000	0.94253	CGT		0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		G	45436386	C	G	45436386	3	3	239	1	0	0	0	0	1	0	0	0	4800	652	23	3	2151	3	DUOX1	15	45436386	Missense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10		45436386	57095006	18	13470											
XYLT1	64131	hgsc.bcm.edu	37	16	17252696	17252696	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr16:17252696C>T	ENST00000261381.6	-	6	1444	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	454					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.D454N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTGCATTGTCCCGGCCGTGT	0.478																																																1	Substitution - Missense(1)	ovary(1)	16											112	110	110					16																	17252696		2197	4300	6497	17160197	SO:0001583	missense	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1360G>A	16.37:g.17252696C>T	ENSP00000261381:p.Asp454Asn		17160197	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794398	0.90453	.	.	ENSG00000103489	ENST00000261381	T	0.13420	2.59	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	L	0.46741	1.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01298	-1.1392	10	0.45353	T	0.12	-47.6287	17.4172	0.87504	0.0:1.0:0.0:0.0	.	454	Q86Y38	XYLT1_HUMAN	N	454	ENSP00000261381:D454N	ENSP00000261381:D454N	D	-	1	0	XYLT1	17160197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.905000	0.75714	2.398000	0.81561	0.563000	0.77884	GAC		0.478	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		T	17252696	C	T	17252696	3	4	239	1	0	0	0	0	1	0	0	0	17463	855	30	2	1547	2	XYLT1	16	17252696	Missense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10		17252696	73102057	19	13471											
ARHGAP17	55114	hgsc.bcm.edu	37	16	24958825	24958827	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	AGT	AGT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr16:24958825_24958827delAGT	ENST00000289968.6	-	14	1286_1288	c.1217_1219delACT	c.(1216-1221)aacttg>atg	p.406_407NL>M	ARHGAP17_ENST00000303665.5_In_Frame_Del_p.406_407NL>M|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	406	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.N406_L407>M(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCCCATAACAAGTTAGGGCCTAA	0.414																																																1	Complex - deletion inframe(1)	ovary(1)	16																																								24866328	SO:0001651	inframe_deletion	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1217_1219delACT	16.37:g.24958825_24958827delAGT	ENSP00000289968:p.Asn406_Leu407delinsMet		24866326	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	In_Frame_Del	DEL	ENST00000289968.6	37	CCDS32409.1																																																																																				0.414	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		-	24958827	AGT	-	24958825	7	5	239	1	0	1	0	1	0	0	0	0	867	69	3	0	1454	0	ARHGAP17	16	24958825	In_Frame_Del	DEL	AGT	TCGA-24-1548-01A-01W-0615-10	7706129	24958825	65395928	20	13472											
TP53	7157	hgsc.bcm.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	239	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-24-1548-01A-01W-0615-10		7578190	73617020	21	13473											
MAP2K4	6416	hgsc.bcm.edu	37	17	11984782	11984782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr17:11984782C>T	ENST00000353533.5	+	3	391	c.328C>T	c.(328-330)Cga>Tga	p.R110*	MAP2K4_ENST00000415385.3_Nonsense_Mutation_p.R121*|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.R110*(2)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGAAATTGGACGAGGAGCTTA	0.418			"D, Mis, N"		"pancreatic, breast, colorectal"																																		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Substitution - Nonsense(2)|Unknown(1)	ovary(5)|breast(4)|biliary_tract(1)|stomach(1)|large_intestine(1)|pancreas(1)	17											90	82	84					17																	11984782		2203	4300	6503	11925507	SO:0001587	stop_gained	6416			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.328C>T	17.37:g.11984782C>T	ENSP00000262445:p.Arg110*		11925507	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Nonsense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	36	5.628544	0.96671	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0133	0.89231	0.0:1.0:0.0:0.0	.	.	.	.	X	110;121;87	.	ENSP00000262445:R110X	R	+	1	2	MAP2K4	11925507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.910000	0.69931	2.628000	0.89032	0.561000	0.74099	CGA		0.418	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			T	11984782	C	T	11984782	4	4	239	1	0	0	0	0	0	1	0	0	9239	528	19	1	338	1	MAP2K4	17	11984782	Nonsense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10	4406592	11984782	69210428	22	13474											
LAMA1	284217	hgsc.bcm.edu	37	18	6999480	6999480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr18:6999480C>A	ENST00000389658.3	-	32	4720	c.4627G>T	c.(4627-4629)Gaa>Taa	p.E1543*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1543	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1543*(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCCTCGGTTCACACTCATCG	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	18											47	41	43					18																	6999480		2203	4300	6503	6989480	SO:0001587	stop_gained	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4627G>T	18.37:g.6999480C>A	ENSP00000374309:p.Glu1543*		6989480		Nonsense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	42	9.399418	0.99159	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.87	0.605	0.17553	.	0.319872	0.31484	N	0.007567	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	9.3014	0.37847	0.0:0.4823:0.3847:0.133	.	.	.	.	X	1543	.	ENSP00000374309:E1543X	E	-	1	0	LAMA1	6989480	1.000000	0.71417	0.660000	0.29694	0.077000	0.17291	0.933000	0.28897	0.375000	0.24679	0.655000	0.94253	GAA		0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6999480	C	A	6999480	4	1	239	1	0	0	0	0	0	1	0	0	8605	835	29	3	4728	3	LAMA1	18	6999480	Nonsense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10		6999480	71077768	23	13475											
C19orf57	79173	hgsc.bcm.edu	37	19	14001101	14001101	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr19:14001101G>T	ENST00000586783.1	-	5	567	c.568C>A	c.(568-570)Cag>Aag	p.Q190K	C19orf57_ENST00000346736.2_Missense_Mutation_p.Q190K|C19orf57_ENST00000454313.1_Missense_Mutation_p.Q190K|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	190					multicellular organismal development (GO:0007275)			p.Q190K(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCATCAGGCTGAGAATCCCCA	0.672																																																1	Substitution - Missense(1)	ovary(1)	19											66	63	64					19																	14001101		2203	4300	6503	13862101	SO:0001583	missense	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.568C>A	19.37:g.14001101G>T	ENSP00000465822:p.Gln190Lys		13862101	Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37		.	.	.	.	.	.	.	.	.	.	G	15.10	2.732448	0.48939	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.28666	1.6;1.6	3.34	3.34	0.38264	.	2.079320	0.02703	N	0.111993	T	0.34164	0.0888	L	0.29908	0.895	0.09310	N	1	P;P	0.50528	0.936;0.936	P;P	0.47744	0.556;0.556	T	0.37478	-0.9704	10	0.62326	D	0.03	2.8472	10.4194	0.44341	0.0:0.0:1.0:0.0	.	190;190	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	K	190	ENSP00000404382:Q190K;ENSP00000254336:Q190K	ENSP00000254336:Q190K	Q	-	1	0	C19orf57	13862101	0.000000	0.05858	0.024000	0.17045	0.189000	0.23516	-0.091000	0.11146	2.155000	0.67459	0.491000	0.48974	CAG		0.672	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		T	14001101	G	T	14001101	3	4	239	1	0	0	0	0	1	0	0	0	1939	1299	45	3	1357	3	C19orf57	19	14001101	Missense_Mutation	SNP	G	TCGA-24-1548-01A-01W-0615-10		14001101	45127882	24	13476											
ZNF45	7596	hgsc.bcm.edu	37	19	44417975	44417975	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr19:44417975C>A	ENST00000269973.5	-	10	2703	c.1613G>T	c.(1612-1614)aGt>aTt	p.S538I	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.S538I	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	538					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S538I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGAACCTACACTGAAGCCCTT	0.517																																																1	Substitution - Missense(1)	ovary(1)	19											99	88	91					19																	44417975		2203	4300	6503	49109815	SO:0001583	missense	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1613G>T	19.37:g.44417975C>A	ENSP00000269973:p.Ser538Ile		49109815	P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.60|13.60	2.286274|2.286274	0.40494|0.40494	.|.	.|.	ENSG00000124459|ENSG00000124459	ENST00000269973|ENST00000328762	T|.	0.37058|.	1.22|.	3.61|3.61	2.54|2.54	0.30619|0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.171467|.	0.28062|.	N|.	0.016745|.	T|T	0.51295|0.51295	0.1666|0.1666	L|L	0.54863|0.54863	1.705|1.705	0.09310|0.09310	N|N	0.999998|0.999998	P|.	0.36683|.	0.565|.	B|.	0.30782|.	0.12|.	T|T	0.44513|0.44513	-0.9323|-0.9323	10|6	0.36615|0.52906	T|T	0.2|0.07	-8.8305|-8.8305	11.4961|11.4961	0.50408|0.50408	0.0:0.4981:0.5019:0.0|0.0:0.4981:0.5019:0.0	.|.	538|.	Q02386|.	ZNF45_HUMAN|.	I|L	538|538	ENSP00000269973:S538I|.	ENSP00000269973:S538I|ENSP00000367176:V538L	S|V	-|-	2|1	0|0	ZNF45|ZNF45	49109815|49109815	0.000000|0.000000	0.05858|0.05858	0.920000|0.920000	0.36463|0.36463	0.988000|0.988000	0.76386|0.76386	-0.247000|-0.247000	0.08866|0.08866	0.831000|0.831000	0.34780|0.34780	0.455000|0.455000	0.32223|0.32223	AGT|GTG		0.517	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		A	44417975	C	A	44417975	3	1	239	1	0	0	0	0	1	0	0	0	17921	565	20	3	439	3	ZNF45	19	44417975	Missense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10	30416874	44417975	14711008	25	13477											
PPP2R1A	5518	hgsc.bcm.edu	37	19	52716334	52716334	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chr19:52716334C>T	ENST00000322088.6	+	6	836	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R205C|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R81C	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	260	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R260C(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTGGCGCGTCCGCTACATGGT	0.597			Mis		clear cell ovarian carcinoma																																		Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	1	Substitution - Missense(1)	ovary(1)	19											47	42	44					19																	52716334		2203	4300	6503	57408146	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.778C>T	19.37:g.52716334C>T	ENSP00000324804:p.Arg260Cys		57408146	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290760	0.80914	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.34859	1.34;1.34	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000044	T	0.67439	0.2893	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74973	-0.3481	10	0.87932	D	0	-18.7024	10.3858	0.44138	0.1951:0.8049:0.0:0.0	.	205;260;260	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	C	250;180;260;205	ENSP00000324804:R260C;ENSP00000415067:R205C	ENSP00000324804:R260C	R	+	1	0	PPP2R1A	57408146	1.000000	0.71417	0.934000	0.37439	0.980000	0.70556	4.860000	0.62961	2.550000	0.86006	0.655000	0.94253	CGC		0.597	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		T	52716334	C	T	52716334	3	4	239	1	0	0	0	0	1	0	0	0	12385	652	23	1	800	1	PPP2R1A	19	52716334	Missense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10	8298359	52716334	6412649	26	13478											
KIAA2022	340533	hgsc.bcm.edu	37	X	73963172	73963172	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chrX:73963172G>T	ENST00000055682.6	-	3	1831	c.1220C>A	c.(1219-1221)cCt>cAt	p.P407H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	407					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.P407H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTTAAGGCAGGCTTTTCTCC	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											254	215	228					X																	73963172		2203	4300	6503	73879897	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1220C>A	X.37:g.73963172G>T	ENSP00000055682:p.Pro407His		73879897	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	9.521	1.108340	0.20714	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.29917	1.55;1.55	6.03	3.29	0.37713	.	1.722310	0.02434	N	0.083888	T	0.23054	0.0557	N	0.22421	0.69	0.09310	N	1	P	0.36315	0.547	B	0.37047	0.24	T	0.23297	-1.0192	10	0.15499	T	0.54	1.799	6.4722	0.22015	0.209:0.0:0.6616:0.1294	.	407	Q5QGS0	K2022_HUMAN	H	407	ENSP00000362567:P407H;ENSP00000055682:P407H	ENSP00000055682:P407H	P	-	2	0	KIAA2022	73879897	1.000000	0.71417	0.938000	0.37757	0.868000	0.49771	3.486000	0.53215	0.264000	0.21851	0.600000	0.82982	CCT		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73963172	G	T	73963172	3	4	239	1	0	0	0	0	1	0	0	0	8269	1000	35	3	3338	3	KIAA2022	23	73963172	Missense_Mutation	SNP	G	TCGA-24-1548-01A-01W-0615-10		73963172	81307388	27	13479											
HTATSF1	27336	hgsc.bcm.edu	37	X	135592337	135592337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chrX:135592337C>T	ENST00000218364.4	+	8	1195	c.1021C>T	c.(1021-1023)Caa>Taa	p.Q341*	HTATSF1_ENST00000535601.1_Nonsense_Mutation_p.Q341*	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	341	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q341*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGGTGGCCGTCAAATCACTGC	0.473																																																1	Substitution - Nonsense(1)	ovary(1)	X											208	189	195					X																	135592337		2203	4300	6503	135420003	SO:0001587	stop_gained	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1021C>T	X.37:g.135592337C>T	ENSP00000218364:p.Gln341*		135420003	D3DWG9|Q59G06|Q99730	Nonsense_Mutation	SNP	ENST00000218364.4	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	C	41	9.060350	0.99051	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	.	.	.	5.63	4.75	0.60458	.	0.052094	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.097	14.9324	0.70926	0.1439:0.8561:0.0:0.0	.	.	.	.	X	341	.	ENSP00000218364:Q341X	Q	+	1	0	HTATSF1	135420003	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.498000	0.53302	1.097000	0.41459	0.538000	0.68166	CAA		0.473	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		T	135592337	C	T	135592337	4	4	239	1	0	0	0	0	0	1	0	0	7433	827	29	2	1051	2	HTATSF1	23	135592337	Nonsense_Mutation	SNP	C	TCGA-24-1548-01A-01W-0615-10	61629165	135592337	19678223	28	13480											
F8	2157	hgsc.bcm.edu	37	X	154185254	154185254	+	Missense_Mutation	SNP	G	G	T	rs28937282		TCGA-24-1548-01A-01W-0615-10	TCGA-24-1548-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7de0028c-f2a6-460c-8da5-08e2b99c6b42	b6aa96a1-b0cf-4342-b876-b07fddf0db8a	g.chrX:154185254G>T	ENST00000360256.4	-	11	1930	c.1730C>A	c.(1729-1731)tCt>tAt	p.S577Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	577	F5/8 type A 2.		S -> F (in HEMA; mild). {ECO:0000269|PubMed:8449505}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S577Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGATCTACAGATTCTTTGTA	0.438																																																2	Substitution - Missense(2)	ovary(2)	X	GRCh37	CM930220	F8	M	rs28937282						174	159	164					X																	154185254		2203	4300	6503	153838448	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1730C>A	X.37:g.154185254G>T	ENSP00000353393:p.Ser577Tyr		153838448	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170969	0.78452	.	.	ENSG00000185010	ENST00000360256	D	0.99080	-5.4	5.19	5.19	0.71726	Cupredoxin (2);	0.310852	0.35555	N	0.003128	D	0.99296	0.9754	M	0.85630	2.765	0.40864	D	0.983851	D	0.89917	1.0	D	0.81914	0.995	D	0.99671	1.0996	10	0.87932	D	0	-15.4012	16.3181	0.82935	0.0:0.0:1.0:0.0	.	577	P00451	FA8_HUMAN	Y	577	ENSP00000353393:S577Y	ENSP00000353393:S577Y	S	-	2	0	F8	153838448	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.847000	0.75404	2.155000	0.67459	0.600000	0.82982	TCT		0.438	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			T	154185254	G	T	154185254	3	4	239	1	0	0	0	0	1	0	0	0	5350	942	33	3	5417	3	F8	23	154185254	Missense_Mutation	SNP	G	TCGA-24-1548-01A-01W-0615-10	18592917	154185254	1085306	29	13481											
SPATA6	54558	genome.wustl.edu	37	1	48821392	48821392	+	Missense_Mutation	SNP	G	G	A	rs148746931		TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr1:48821392G>A	ENST00000371847.3	-	11	1308	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	SPATA6_ENST00000371843.3_Missense_Mutation_p.R382W|SPATA6_ENST00000396199.3_Missense_Mutation_p.R310W	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	382					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.R382W(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTTTTACCCGGTCATGGATC	0.294																																																1	Substitution - Missense(1)	ovary(1)	1						G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	97	98	97		1144	4.7	1	1	dbSNP_134	97	0,8600		0,0,4300	no	missense	SPATA6	NM_019073.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	382/489	48821392	1,13005	2203	4300	6503	48593979	SO:0001583	missense	54558			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1144C>T	1.37:g.48821392G>A	ENSP00000360913:p.Arg382Trp		48593979	Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	CCDS551.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696546	0.68386	2.27E-4	0.0	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	T;T;T;T	0.54071	1.69;2.0;1.9;0.59	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	T	0.67924	0.2945	M	0.66297	2.02	0.46416	D	0.999038	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.996	T	0.70178	-0.4943	10	0.87932	D	0	.	10.6085	0.45408	0.0:0.0:0.7104:0.2896	.	310;382;382	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	W	382;382;310;223	ENSP00000360913:R382W;ENSP00000360909:R382W;ENSP00000379502:R310W;ENSP00000360907:R223W	ENSP00000360907:R223W	R	-	1	2	SPATA6	48593979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.304000	0.43655	2.613000	0.88420	0.591000	0.81541	CGG		0.294	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		A	48821392	G	A	48821392	3	1	240	1	0	0	0	0	1	0	0	0	15015	1115	39	1	334	1	SPATA6	1	48821392	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09		48821392	200429229	1	13482											
POGZ	23126	genome.wustl.edu	37	1	151378012	151378012	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr1:151378012C>A	ENST00000271715.2	-	19	3813	c.3499G>T	c.(3499-3501)Ggc>Tgc	p.G1167C	POGZ_ENST00000392723.1_Missense_Mutation_p.G1114C|POGZ_ENST00000368863.2_Missense_Mutation_p.G1072C|POGZ_ENST00000409503.1_Missense_Mutation_p.G1158C|POGZ_ENST00000491586.1_Missense_Mutation_p.G1123C|POGZ_ENST00000540984.1_Missense_Mutation_p.G529C|POGZ_ENST00000361398.3_Missense_Mutation_p.G1114C|POGZ_ENST00000531094.1_Missense_Mutation_p.G1105C	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1167	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1167C(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGGACAGTGCCATCTGCCAGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											114	97	103					1																	151378012		2203	4300	6503	149644636	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3499G>T	1.37:g.151378012C>A	ENSP00000271715:p.Gly1167Cys		149644636	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585792	0.66105	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.61248	0.2332	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999;0.999	T	0.63328	-0.6662	10	0.87932	D	0	-15.9617	18.3087	0.90192	0.0:1.0:0.0:0.0	.	1105;1158;1072;1123;1114;1167	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	C	1114;1167;1114;1072;1158;1105;529;1123	ENSP00000376484:G1114C;ENSP00000271715:G1167C;ENSP00000354467:G1114C;ENSP00000357856:G1072C;ENSP00000386836:G1158C;ENSP00000431259:G1105C;ENSP00000443547:G529C;ENSP00000418408:G1123C	ENSP00000271715:G1167C	G	-	1	0	POGZ	149644636	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.106000	0.77039	2.665000	0.90641	0.591000	0.81541	GGC		0.532	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		A	151378012	C	A	151378012	3	1	240	1	0	0	0	0	1	0	0	0	12186	594	21	3	737	3	POGZ	1	151378012	Missense_Mutation	SNP	C	TCGA-24-1549-01A-01W-0553-09	102556620	151378012	97872609	2	13483											
FMOD	2331	genome.wustl.edu	37	1	203317073	203317073	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr1:203317073T>C	ENST00000354955.4	-	2	789	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	109					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.Y109C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GAAGTACACATACTTCATGCG	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											102	85	91					1																	203317073		2203	4300	6503	201583696	SO:0001583	missense	2331			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.326A>G	1.37:g.203317073T>C	ENSP00000347041:p.Tyr109Cys		201583696	Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254462	0.59212	.	.	ENSG00000122176	ENST00000435105;ENST00000354955;ENST00000539467	T	0.57752	0.38	5.16	5.16	0.70880	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78718	-0.2095	10	0.87932	D	0	-20.2055	13.8362	0.63410	0.0:0.0:0.0:1.0	.	109	Q06828	FMOD_HUMAN	C	96;109;89	ENSP00000347041:Y109C	ENSP00000347041:Y109C	Y	-	2	0	FMOD	201583696	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.897000	0.69831	1.943000	0.56356	0.460000	0.39030	TAT		0.567	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		C	203317073	T	C	203317073	3	2	240	1	0	0	0	0	1	0	0	0	5959	1406	49	4	812	4	FMOD	1	203317073	Missense_Mutation	SNP	T	TCGA-24-1549-01A-01W-0553-09	51939061	203317073	45933548	3	13484											
GNPAT	8443	genome.wustl.edu	37	1	231398535	231398536	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr1:231398535_231398536delCT	ENST00000366647.4	+	4	674_675	c.505_506delCT	c.(505-507)ctcfs	p.L169fs	GNPAT_ENST00000366646.3_Frame_Shift_Del_p.L108fs	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	169					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CATTGACTTCCTCATGTTGTCT	0.347																																																0			1																																								229465159	SO:0001589	frameshift_variant	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.505_506delCT	1.37:g.231398535_231398536delCT	ENSP00000355607:p.Leu169fs		229465158	B4DNM9|Q5TBH7|Q9BWC2	Frame_Shift_Del	DEL	ENST00000366647.4	37	CCDS1592.1																																																																																				0.347	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			-	231398536	CT	-	231398535	7	5	240	1	0	1	0	1	0	0	0	0	6541	681	24	0	519	0	GNPAT	1	231398535	Frame_Shift_Del	DEL	CT	TCGA-24-1549-01A-01W-0553-09	28081462	231398535	17852086	4	13485											
YSK4	80122	genome.wustl.edu	37	2	135756432	135756432	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr2:135756432C>G	ENST00000375845.3	-	5	480	c.450G>C	c.(448-450)agG>agC	p.R150S	MAP3K19_ENST00000392915.1_Missense_Mutation_p.R167S|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R150S|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R150S|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R150S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	150							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R150S(1)									TGCAGAGCTCCCTGGAACTTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											81	83	82					2																	135756432		2203	4300	6503	135472902	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.450G>C	2.37:g.135756432C>G	ENSP00000365005:p.Arg150Ser		135472902	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092218	0.36952	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;T;T;T;T	0.71222	-0.5;-0.48;-0.55;-0.45;1.87	5.19	3.33	0.38152	.	1.281410	0.05519	N	0.561682	T	0.53302	0.1788	N	0.22421	0.69	0.19775	N	0.999959	B;B;B;B;B;B	0.25667	0.005;0.131;0.02;0.131;0.02;0.081	B;B;B;B;B;B	0.21151	0.005;0.033;0.025;0.033;0.025;0.01	T	0.41251	-0.9519	10	0.09084	T	0.74	.	6.8559	0.24040	0.1728:0.7365:0.0:0.0907	.	150;150;150;167;150;150	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	S	150;150;150;150;167	ENSP00000365005:R150S;ENSP00000365004:R150S;ENSP00000376650:R150S;ENSP00000376649:R150S;ENSP00000376647:R167S	ENSP00000365004:R150S	R	-	3	2	YSK4	135472902	0.000000	0.05858	0.190000	0.23270	0.138000	0.21146	0.194000	0.17135	1.399000	0.46721	0.609000	0.83330	AGG		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		G	135756432	C	G	135756432	3	3	240	1	0	0	0	0	1	0	0	0	17495	622	22	3	3560	3	YSK4	2	135756432	Missense_Mutation	SNP	C	TCGA-24-1549-01A-01W-0553-09		135756432	107442941	5	13486											
YEATS2	55689	genome.wustl.edu	37	3	183493741	183493741	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr3:183493741G>A	ENST00000305135.5	+	18	2602	c.2407G>A	c.(2407-2409)Gcc>Acc	p.A803T		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	803	Gly-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.A803T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGGAGTGGTGCCggaggagg	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											65	70	68					3																	183493741		2017	4186	6203	184976435	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2407G>A	3.37:g.183493741G>A	ENSP00000306983:p.Ala803Thr		184976435	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	6.227	0.410103	0.11812	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.48201	0.82	5.04	-1.51	0.08664	.	0.807151	0.11286	N	0.579824	T	0.22437	0.0541	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27468	-1.0073	10	0.12103	T	0.63	11.1796	9.6154	0.39687	0.5051:0.0:0.4949:0.0	.	803	Q9ULM3	YETS2_HUMAN	T	803	ENSP00000306983:A803T	ENSP00000306983:A803T	A	+	1	0	YEATS2	184976435	0.771000	0.28555	0.000000	0.03702	0.067000	0.16453	0.903000	0.28475	-0.430000	0.07318	-1.000000	0.02509	GCC		0.537	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		A	183493741	G	A	183493741	3	1	240	1	0	0	0	0	1	0	0	0	17472	1319	46	2	2473	2	YEATS2	3	183493741	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09		183493741	14528689	6	13487											
MASP1	5648	genome.wustl.edu	37	3	186953746	186953746	+	Intron	SNP	G	G	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr3:186953746G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.S525L|MASP1_ENST00000296280.6_Missense_Mutation_p.S638L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTAATTGCCCGAGCGGGACTC	0.542																																																0			3											105	85	92					3																	186953746		2203	4300	6503	188436440	SO:0001627	intron_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5522C>T	3.37:g.186953746G>A			188436440	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508467	0.64410	.	.	ENSG00000127241	ENST00000296280;ENST00000392472	D;D	0.83335	-1.69;-1.71	5.87	4.94	0.65067	.	0.439108	0.26963	N	0.021608	T	0.73458	0.3589	N	0.16098	0.37	0.80722	D	1	P;B	0.46912	0.886;0.286	P;B	0.45099	0.469;0.091	T	0.73975	-0.3813	10	0.35671	T	0.21	.	13.2154	0.59856	0.0824:0.0:0.9176:0.0	.	525;638	P48740-4;P48740-2	.;.	L	638;525	ENSP00000296280:S638L;ENSP00000376264:S525L	ENSP00000296280:S638L	S	-	2	0	MASP1	188436440	1.000000	0.71417	0.019000	0.16419	0.947000	0.59692	7.780000	0.85658	1.491000	0.48482	0.655000	0.94253	TCG		0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		A	186953746	G	A	186953746	1	1	240	0	1	0	0	0	0	0	0	0	9322	1059	37	1		1	MASP1	3	186953746	Intron	SNP	G	TCGA-24-1549-01A-01W-0553-09	3460005	186953746	11068684	7	13488											
KIAA0232	9778	genome.wustl.edu	37	4	6862866	6862866	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr4:6862866A>T	ENST00000307659.5	+	7	1212	c.757A>T	c.(757-759)Aac>Tac	p.N253Y	KIAA0232_ENST00000425103.1_Missense_Mutation_p.N253Y	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	253							ATP binding (GO:0005524)	p.N253Y(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAAAAGCAAAAACGAGAAGGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	4											90	88	88					4																	6862866		1898	4135	6033	6913767	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.757A>T	4.37:g.6862866A>T	ENSP00000303928:p.Asn253Tyr		6913767	A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486828	0.26686	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.33	1.78	0.24846	.	0.484707	0.25344	N	0.031350	T	0.32585	0.0834	L	0.47716	1.5	0.09310	N	1	B	0.20671	0.047	B	0.20384	0.029	T	0.26780	-1.0093	9	0.62326	D	0.03	0.5686	6.8747	0.24141	0.4383:0.4067:0.155:0.0	.	253	Q92628	K0232_HUMAN	Y	253	.	ENSP00000303928:N253Y	N	+	1	0	KIAA0232	6913767	0.987000	0.35691	0.000000	0.03702	0.533000	0.34776	5.585000	0.67497	0.051000	0.15978	0.459000	0.35465	AAC		0.423	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		T	6862866	A	T	6862866	3	4	240	1	0	0	0	0	1	0	0	0	8163	14	1	5	775	5	KIAA0232	4	6862866	Missense_Mutation	SNP	A	TCGA-24-1549-01A-01W-0553-09		6862866	184291410	8	13489											
FAT1	2195	genome.wustl.edu	37	4	187628556	187628556	+	Missense_Mutation	SNP	T	T	C	rs201850668	byFrequency	TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr4:187628556T>C	ENST00000441802.2	-	2	2635	c.2426A>G	c.(2425-2427)cAt>cGt	p.H809R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	809	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H809R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACCACGACATGTAGAAGACG	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											1	Substitution - Missense(1)	ovary(1)	4						T	ARG/HIS	0,3948		0,0,1974	191	190	190		2426	3.6	0	4		190	9,8293		0,9,4142	yes	missense	FAT1	NM_005245.3	29	0,9,6116	CC,CT,TT		0.1084,0.0,0.0735	benign	809/4589	187628556	9,12241	1974	4151	6125	187865550	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2426A>G	4.37:g.187628556T>C	ENSP00000406229:p.His809Arg		187865550		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	1.928	-0.446615	0.04572	0.0	0.001084	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.48522	0.81	4.81	3.61	0.41365	Cadherin (4);Cadherin-like (1);	0.275088	0.40144	N	0.001176	T	0.28234	0.0697	N	0.13003	0.285	0.09310	N	1	B	0.19445	0.036	B	0.23852	0.049	T	0.17745	-1.0359	10	0.15499	T	0.54	.	10.5956	0.45336	0.0:0.0766:0.0:0.9234	.	809	Q14517	FAT1_HUMAN	R	809	ENSP00000406229:H809R	ENSP00000260147:H809R	H	-	2	0	FAT1	187865550	0.973000	0.33851	0.002000	0.10522	0.006000	0.05464	2.627000	0.46469	0.847000	0.35167	0.402000	0.26972	CAT		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		C	187628556	T	C	187628556	3	2	240	1	0	0	0	0	1	0	0	0	5689	1464	51	4	11444	4	FAT1	4	187628556	Missense_Mutation	SNP	T	TCGA-24-1549-01A-01W-0553-09	180765690	187628556	3525720	9	13490											
FAM134B	54463	genome.wustl.edu	37	5	16478974	16478974	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr5:16478974T>C	ENST00000306320.9	-	6	879	c.793A>G	c.(793-795)Aaa>Gaa	p.K265E	FAM134B_ENST00000399793.2_Missense_Mutation_p.K124E	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	265					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.K265E(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTCTCACGTTTCTTCTGATTA	0.289																																																1	Substitution - Missense(1)	ovary(1)	5											93	91	91					5																	16478974		1811	4067	5878	16531974	SO:0001583	missense	54463			BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.793A>G	5.37:g.16478974T>C	ENSP00000304642:p.Lys265Glu		16531974	Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725244	0.30593	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.41065	1.01;1.01	5.61	4.4	0.53042	.	0.260060	0.43747	D	0.000532	T	0.26231	0.0640	L	0.38175	1.15	0.28344	N	0.92123	P;B	0.38922	0.651;0.001	B;B	0.27887	0.084;0.002	T	0.26155	-1.0111	10	0.45353	T	0.12	-11.3829	8.6312	0.33919	0.1274:0.0:0.1332:0.7394	.	265;124	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	E	124;265	ENSP00000382691:K124E;ENSP00000304642:K265E	ENSP00000304642:K265E	K	-	1	0	FAM134B	16531974	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.251000	0.58778	2.147000	0.66899	0.477000	0.44152	AAA		0.289	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		C	16478974	T	C	16478974	3	2	240	1	0	0	0	0	1	0	0	0	5446	1792	62	4	716	4	FAM134B	5	16478974	Missense_Mutation	SNP	T	TCGA-24-1549-01A-01W-0553-09		16478974	164436286	10	13491											
GAL3ST4	79690	genome.wustl.edu	37	7	99757959	99757959	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr7:99757959C>A	ENST00000360039.4	-	4	1445	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.E289D|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.E351D|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	351					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.E351D(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGCCGGTCCTCCGCAGTCA	0.592																																																1	Substitution - Missense(1)	ovary(1)	7											53	55	54					7																	99757959		2203	4300	6503	99595895	SO:0001583	missense	79690			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1053G>T	7.37:g.99757959C>A	ENSP00000353142:p.Glu351Asp		99595895	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580744	0.28180	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.16073	2.37;2.37;2.37	5.12	2.31	0.28768	.	0.692716	0.10978	U	0.613041	T	0.15696	0.0378	L	0.36672	1.1	0.36769	D	0.883673	P;P	0.44521	0.801;0.837	B;B	0.44315	0.315;0.446	T	0.19192	-1.0313	10	0.21540	T	0.41	-11.9211	9.0872	0.36587	0.0:0.7575:0.0:0.2425	.	289;351	B4DWL8;Q96RP7	.;G3ST4_HUMAN	D	351;351;289	ENSP00000400451:E351D;ENSP00000353142:E351D;ENSP00000398304:E289D	ENSP00000353142:E351D	E	-	3	2	GAL3ST4	99595895	0.032000	0.19561	0.467000	0.27180	0.026000	0.11368	-0.114000	0.10757	0.318000	0.23185	0.511000	0.50034	GAG		0.592	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		A	99757959	C	A	99757959	3	1	240	1	0	0	0	0	1	0	0	0	6200	680	24	3	411	3	GAL3ST4	7	99757959	Missense_Mutation	SNP	C	TCGA-24-1549-01A-01W-0553-09		99757959	59380704	11	13492											
ZAN	7455	genome.wustl.edu	37	7	100366320	100366320	+	RNA	SNP	A	A	T			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr7:100366320A>T	ENST00000348028.3	+	0	5294				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K1710M(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCCGCCTGGAAGTTACCTGAA	0.627																																																1	Substitution - Missense(1)	ovary(1)	7											19	19	19					7																	100366320		1863	4088	5951	100204256			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100366320A>T			100204256	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	A	13.51	2.258867	0.39896	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.28255	2.17;2.17;2.14;1.62	4.62	0.246	0.15516	von Willebrand factor, type D domain (1);	0.657454	0.13404	N	0.390435	T	0.33933	0.0880	M	0.87328	2.875	0.09310	N	1	B;B	0.25272	0.122;0.075	B;B	0.24541	0.054;0.024	T	0.40515	-0.9559	10	0.66056	D	0.02	.	4.0425	0.09758	0.3681:0.0:0.1049:0.527	.	1710;1710	F5H0T8;Q9Y493	.;ZAN_HUMAN	M	1710;1710;1710;287	ENSP00000445943:K1710M;ENSP00000445091:K1710M;ENSP00000444427:K1710M;ENSP00000441117:K287M	ENSP00000423579:K1710M	K	+	2	0	ZAN	100204256	0.047000	0.20315	0.267000	0.24556	0.029000	0.11900	0.023000	0.13533	0.025000	0.15241	-0.301000	0.09380	AAG		0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100366320	A	T	100366320	1	4	240	0	1	0	0	0	0	0	0	0	17513	72	3	5		5	ZAN	7	100366320	RNA	SNP	A	TCGA-24-1549-01A-01W-0553-09	608361	100366320	58772343	12	13493											
PRDM14	63978	genome.wustl.edu	37	8	70978519	70978519	+	Silent	SNP	C	C	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr8:70978519C>A	ENST00000276594.2	-	5	1335	c.1134G>T	c.(1132-1134)gtG>gtT	p.V378V		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	378					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.V378V(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CCTGAAGGCTCACAGGAATAT	0.512																																					NSCLC(129;99 1813 5906 40656 46114)											1	Substitution - coding silent(1)	ovary(1)	8											69	72	71					8																	70978519		2203	4300	6503	71141073	SO:0001819	synonymous_variant	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1134G>T	8.37:g.70978519C>A			71141073	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																				0.512	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			A	70978519	C	A	70978519	2	1	240	1	0	0	0	0	0	0	0	1	12458	813	29	3		3	PRDM14	8	70978519	Silent	SNP	C	TCGA-24-1549-01A-01W-0553-09		70978519	75385503	13	13494											
RIMS2	9699	genome.wustl.edu	37	8	104709458	104709458	+	Silent	SNP	C	C	T			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr8:104709458C>T	ENST00000406091.3	+	2	321	c.321C>T	c.(319-321)aaC>aaT	p.N107N		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	138	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.N143N(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGGCCATAACTGTTCATATT	0.433										HNSCC(12;0.0054)																																						1	Substitution - coding silent(1)	ovary(1)	8											194	193	193					8																	104709458		1986	4174	6160	104778634	SO:0001819	synonymous_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.321C>T	8.37:g.104709458C>T			104778634	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000406091.3	37	CCDS55269.1																																																																																				0.433	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		T	104709458	C	T	104709458	2	4	240	1	0	0	0	0	0	0	0	1	13371	564	20	2		2	RIMS2	8	104709458	Silent	SNP	C	TCGA-24-1549-01A-01W-0553-09	33730939	104709458	41654564	14	13495											
GRIN3A	116443	genome.wustl.edu	37	9	104432718	104432718	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr9:104432718G>T	ENST00000361820.3	-	3	2576	c.1976C>A	c.(1975-1977)aCc>aAc	p.T659N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	659					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.T659N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGTATCTCGGGTCCTCACTAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	9											73	78	77					9																	104432718		2203	4300	6503	103472539	SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1976C>A	9.37:g.104432718G>T	ENSP00000355155:p.Thr659Asn		103472539	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752486	0.69533	.	.	ENSG00000198785	ENST00000361820	T	0.27256	1.68	5.63	5.63	0.86233	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.113322	0.64402	D	0.000016	T	0.40839	0.1133	L	0.36672	1.1	0.58432	D	0.999998	P	0.48764	0.915	P	0.57720	0.826	T	0.09907	-1.0653	10	0.72032	D	0.01	.	20.1163	0.97934	0.0:0.0:1.0:0.0	.	659	Q8TCU5	NMD3A_HUMAN	N	659	ENSP00000355155:T659N	ENSP00000355155:T659N	T	-	2	0	GRIN3A	103472539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.829000	0.97493	0.580000	0.79431	ACC		0.532	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104432718	G	T	104432718	3	4	240	1	0	0	0	0	1	0	0	0	6783	1261	44	3	1399	3	GRIN3A	9	104432718	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09		104432718	36780713	15	13496											
GRID1	2894	genome.wustl.edu	37	10	87489325	87489325	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr10:87489325T>A	ENST00000327946.7	-	9	1365	c.1280A>T	c.(1279-1281)gAg>gTg	p.E427V	GRID1_ENST00000536331.1_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	427					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.E427V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CATGGGCCTCTCTTGCAAGCT	0.537										Multiple Myeloma(13;0.14)																																						1	Substitution - Missense(1)	ovary(1)	10											82	78	79					10																	87489325		2203	4300	6503	87479305	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1280A>T	10.37:g.87489325T>A	ENSP00000330148:p.Glu427Val		87479305	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522366	0.85600	.	.	ENSG00000182771	ENST00000327946	T	0.12774	2.65	5.54	5.54	0.83059	.	0.043943	0.85682	D	0.000000	T	0.25457	0.0619	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.01688	-1.1295	10	0.36615	T	0.2	.	14.8342	0.70169	0.0:0.0:0.0:1.0	.	427	Q9ULK0	GRID1_HUMAN	V	427	ENSP00000330148:E427V	ENSP00000330148:E427V	E	-	2	0	GRID1	87479305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.094000	0.63399	0.533000	0.62120	GAG		0.537	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		A	87489325	T	A	87489325	3	1	240	1	0	0	0	0	1	0	0	0	6771	1551	54	5	1781	5	GRID1	10	87489325	Missense_Mutation	SNP	T	TCGA-24-1549-01A-01W-0553-09		87489325	48045422	16	13497											
VAX1	11023	genome.wustl.edu	37	10	118895992	118895992	+	Silent	SNP	G	G	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr10:118895992G>A	ENST00000369206.5	-	2	419	c.420C>T	c.(418-420)tcC>tcT	p.S140S	VAX1_ENST00000277905.2_Silent_p.S140S	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	140					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S140S(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTGGGTCTCGGAGAGGTTAA	0.652																																																1	Substitution - coding silent(1)	ovary(1)	10											37	39	39					10																	118895992		2203	4300	6503	118885982	SO:0001819	synonymous_variant	11023			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.420C>T	10.37:g.118895992G>A			118885982	B1AVW5|Q6ZSX0	Silent	SNP	ENST00000369206.5	37	CCDS44483.1																																																																																				0.652	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		A	118895992	G	A	118895992	2	1	240	1	0	0	0	0	0	0	0	1	17134	1103	39	1		1	VAX1	10	118895992	Silent	SNP	G	TCGA-24-1549-01A-01W-0553-09	31406667	118895992	16638755	17	13498											
MUC5B	727897	genome.wustl.edu	37	11	1267258	1267258	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr11:1267258A>G	ENST00000529681.1	+	31	9206	c.9148A>G	c.(9148-9150)Acc>Gcc	p.T3050A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3053A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3050	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T3029A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACTGCAACCACCCTTCCAGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	11											130	158	149					11																	1267258		2093	4193	6286	1223834	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9148A>G	11.37:g.1267258A>G	ENSP00000436812:p.Thr3050Ala		1223834	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046127	0.08243	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.24151	1.87;2.05	3.08	-6.16	0.02098	.	.	.	.	.	T	0.21186	0.0510	L	0.61218	1.895	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.13407	0.009;0.009	T	0.21552	-1.0242	9	0.87932	D	0	.	5.4597	0.16610	0.266:0.0:0.3628:0.3712	.	3633;3053	A7Y9J9;E9PBJ0	.;.	A	3050;3053;3022;3010	ENSP00000436812:T3050A;ENSP00000415793:T3053A	ENSP00000343037:T3022A	T	+	1	0	MUC5B	1223834	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.479000	0.06567	-2.676000	0.00411	0.338000	0.21704	ACC		0.602	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1267258	A	G	1267258	3	3	240	1	0	0	0	0	1	0	0	0	9979	159	6	4	9279	4	MUC5B	11	1267258	Missense_Mutation	SNP	A	TCGA-24-1549-01A-01W-0553-09		1267258	133739258	18	13499											
OR51A7	119687	genome.wustl.edu	37	11	4928842	4928842	+	Missense_Mutation	SNP	G	G	A	rs141919327		TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr11:4928842G>A	ENST00000359350.4	+	1	243	c.243G>A	c.(241-243)atG>atA	p.M81I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	81			M -> T (in dbSNP:rs7108225).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M81I(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCTACCATGTTGAGGGTCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	11						G	ILE/MET	1,4401	2.1+/-5.4	0,1,2200	153	132	139		243	4.1	1	11	dbSNP_134	139	0,8596		0,0,4298	no	missense	OR51A7	NM_001004749.1	10	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	81/313	4928842	1,12997	2201	4298	6499	4885418	SO:0001583	missense	119687			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.243G>A	11.37:g.4928842G>A	ENSP00000352305:p.Met81Ile		4885418	Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284912	0.40394	2.27E-4	0.0	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.05513	3.43	5.02	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.09423	0.0232	M	0.62266	1.93	0.24417	N	0.994635	B	0.18610	0.029	B	0.30782	0.12	T	0.08554	-1.0716	10	0.51188	T	0.08	.	8.4806	0.33040	0.0839:0.0:0.7625:0.1536	.	81	Q8NH64	O51A7_HUMAN	I	81;81;70	ENSP00000352305:M81I	ENSP00000352305:M81I	M	+	3	0	OR51A7	4885418	0.001000	0.12720	1.000000	0.80357	0.859000	0.49053	0.438000	0.21559	2.596000	0.87737	0.655000	0.94253	ATG		0.463	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		A	4928842	G	A	4928842	3	1	240	1	0	0	0	0	1	0	0	0	11088	1377	48	2	245	2	OR51A7	11	4928842	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09	3661584	4928842	130077674	19	13500											
MYOD1	4654	genome.wustl.edu	37	11	17741443	17741443	+	Silent	SNP	G	G	T			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr11:17741443G>T	ENST00000250003.3	+	1	329	c.114G>T	c.(112-114)ccG>ccT	p.P38P		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	38					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)	p.P38P(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TCGACTCCCCGGACCTGCGCT	0.672																																																1	Substitution - coding silent(1)	ovary(1)	11											49	52	51					11																	17741443		2200	4293	6493	17698019	SO:0001819	synonymous_variant	4654			AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"Basic helix-loop-helix proteins"	7611	protein-coding gene	gene with protein product	"myoblast determination protein 1"	159970	"myogenic factor 3"	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.114G>T	11.37:g.17741443G>T			17698019	O75321	Silent	SNP	ENST00000250003.3	37	CCDS7826.1																																																																																				0.672	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		T	17741443	G	T	17741443	2	4	240	1	0	0	0	0	0	0	0	1	10088	1103	39	3		3	MYOD1	11	17741443	Silent	SNP	G	TCGA-24-1549-01A-01W-0553-09	12812601	17741443	117265073	20	13501											
PRKRIR	5612	genome.wustl.edu	37	11	76062525	76062525	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr11:76062525G>A	ENST00000260045.3	-	5	1774	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	557					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R557C(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGAGCTCTGCGGAATTTCCCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	11											29	25	27					11																	76062525		2065	4162	6227	75740173	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1669C>T	11.37:g.76062525G>A	ENSP00000260045:p.Arg557Cys		75740173	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324541	0.24080	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	5.13	3.12	0.35913	Ribonuclease H-like (1);	0.324194	0.38492	N	0.001675	T	0.36799	0.0980	N	0.16478	0.41	0.48288	D	0.999628	B	0.02656	0.0	B	0.01281	0.0	T	0.16778	-1.0391	9	0.37606	T	0.19	.	7.8485	0.29440	0.1485:0.1346:0.717:0.0	.	557	O43422	P52K_HUMAN	C	382;557	.	ENSP00000260045:R557C	R	-	1	0	PRKRIR	75740173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.935000	0.40173	1.342000	0.45619	0.644000	0.83932	CGC		0.398	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		A	76062525	G	A	76062525	3	1	240	1	0	0	0	0	1	0	0	0	12529	1116	39	1	620	1	PRKRIR	11	76062525	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09	58321082	76062525	58943991	21	13502											
SNX19	399979	genome.wustl.edu	37	11	130785599	130785599	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr11:130785599A>G	ENST00000265909.4	-	1	805	c.236T>C	c.(235-237)cTg>cCg	p.L79P	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.L79P	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	79					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L79P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GAAGCGTTCCAGATGCAGTCG	0.587																																																1	Substitution - Missense(1)	ovary(1)	11											71	57	62					11																	130785599		2201	4297	6498	130290809	SO:0001583	missense	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.236T>C	11.37:g.130785599A>G	ENSP00000265909:p.Leu79Pro		130290809	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381427	0.42207	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.29655	1.9;1.56	4.84	3.7	0.42460	.	0.160462	0.41605	D	0.000853	T	0.50171	0.1600	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49351	-0.8949	10	0.62326	D	0.03	-9.6121	11.4421	0.50102	0.8485:0.1514:0.0:0.0	.	79;79	E9PKB9;Q92543	.;SNX19_HUMAN	P	79	ENSP00000265909:L79P;ENSP00000435390:L79P	ENSP00000265909:L79P	L	-	2	0	SNX19	130290809	1.000000	0.71417	0.998000	0.56505	0.084000	0.17831	6.732000	0.74790	0.842000	0.35045	0.374000	0.22700	CTG		0.587	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		G	130785599	A	G	130785599	3	3	240	1	0	0	0	0	1	0	0	0	14893	188	7	4	2786	4	SNX19	11	130785599	Missense_Mutation	SNP	A	TCGA-24-1549-01A-01W-0553-09	54723074	130785599	4220917	22	13503											
NTM	50863	genome.wustl.edu	37	11	132016194	132016194	+	Silent	SNP	G	G	A	rs146934731		TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr11:132016194G>A	ENST00000374786.1	+	2	665	c.186G>A	c.(184-186)cgG>cgA	p.R62R	NTM_ENST00000374784.1_Silent_p.R62R|NTM_ENST00000374791.3_Silent_p.R62R|NTM_ENST00000425719.2_Silent_p.R62R|NTM_ENST00000427481.2_Silent_p.R53R|NTM_ENST00000539799.1_Silent_p.R62R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	62	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R62R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTGACAACCGGGTCACCCGGG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	11						G	,,,	1,4401	2.1+/-5.4	0,1,2200	117	94	102		186,186,186,186	0.8	1	11	dbSNP_134	102	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NTM	NM_001048209.1,NM_001144058.1,NM_001144059.1,NM_016522.2	,,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,,	62/345,62/356,62/317,62/345	132016194	1,12995	2201	4297	6498	131521404	SO:0001819	synonymous_variant	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.186G>A	11.37:g.132016194G>A			131521404	A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	CCDS8491.1																																																																																				0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		A	132016194	G	A	132016194	2	1	240	1	0	0	0	0	0	0	0	1	10699	1219	43	2		2	NTM	11	132016194	Silent	SNP	G	TCGA-24-1549-01A-01W-0553-09	1230595	132016194	2990322	23	13504											
PCDH20	64881	genome.wustl.edu	37	13	61986811	61986811	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr13:61986811G>A	ENST00000409186.1	-	5	3526	c.1421C>T	c.(1420-1422)cCg>cTg	p.P474L	PCDH20_ENST00000409204.4_Missense_Mutation_p.P474L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	474	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.P447L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TAACCTAAACGGCCCTTCACC	0.408																																																1	Substitution - Missense(1)	ovary(1)	13											114	112	112					13																	61986811		2203	4300	6503	60884812	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1421C>T	13.37:g.61986811G>A	ENSP00000386653:p.Pro474Leu		60884812	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104393	0.56291	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.61510	0.1;0.1	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000006	T	0.80544	0.4643	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82210	-0.0570	10	0.87932	D	0	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	474	A8K1K9	.	L	474;474;220	ENSP00000387250:P474L;ENSP00000386653:P474L	ENSP00000351500:P220L	P	-	2	0	PCDH20	60884812	1.000000	0.71417	0.948000	0.38648	0.462000	0.32619	9.807000	0.99171	2.808000	0.96608	0.650000	0.86243	CCG		0.408	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		A	61986811	G	A	61986811	3	1	240	1	0	0	0	0	1	0	0	0	11515	1116	39	1	1438	1	PCDH20	13	61986811	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09		61986811	53183067	24	13505											
IL32	9235	genome.wustl.edu	37	16	3119303	3119303	+	Missense_Mutation	SNP	G	G	C	rs141220342		TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr16:3119303G>C	ENST00000534507.1	+	6	863	c.652G>C	c.(652-654)Gac>Cac	p.D218H	IL32_ENST00000444393.3_Missense_Mutation_p.D172H|IL32_ENST00000529550.1_Missense_Mutation_p.D172H|IL32_ENST00000325568.5_Missense_Mutation_p.D172H|IL32_ENST00000396887.3_Missense_Mutation_p.D115H|IL32_ENST00000440815.3_Missense_Mutation_p.D172H|IL32_ENST00000552936.1_Missense_Mutation_p.D196H|IL32_ENST00000548246.1_Missense_Mutation_p.D132H|IL32_ENST00000526464.2_Missense_Mutation_p.D172H|IL32_ENST00000396890.2_Missense_Mutation_p.D218H|IL32_ENST00000548652.1_Missense_Mutation_p.D163H|IL32_ENST00000552664.1_Missense_Mutation_p.D172H|IL32_ENST00000549213.1_Missense_Mutation_p.D115H|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000531965.1_Missense_Mutation_p.D162H|IL32_ENST00000552356.1_Missense_Mutation_p.D152H|IL32_ENST00000525643.2_Missense_Mutation_p.D172H|IL32_ENST00000528163.2_Missense_Mutation_p.D172H|IL32_ENST00000382213.3_Missense_Mutation_p.D163H|IL32_ENST00000529699.1_Missense_Mutation_p.D152H|IL32_ENST00000530538.2_Missense_Mutation_p.D172H|IL32_ENST00000533097.2_Missense_Mutation_p.D172H|IL32_ENST00000551122.1_Missense_Mutation_p.D115H|IL32_ENST00000008180.9_Missense_Mutation_p.D152H|IL32_ENST00000530890.1_Missense_Mutation_p.D152H|IL32_ENST00000548476.1_Missense_Mutation_p.D218H|IL32_ENST00000551513.1_Missense_Mutation_p.D209H			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.D172H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCCACGGGGGGACAAGGAGGA	0.577																																																1	Substitution - Missense(1)	ovary(1)	16											92	118	109					16																	3119303		2197	4300	6497	3059304	SO:0001583	missense	9235			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.652G>C	16.37:g.3119303G>C	ENSP00000431775:p.Asp218His		3059304	A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37		.	.	.	.	.	.	.	.	.	.	G	7.185	0.590407	0.13812	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.42;0.43;0.41;0.4;0.42;0.42;0.42;0.42;0.4;0.42;0.43;0.42;0.42;0.42;0.42;0.42;0.43;0.42;0.42;0.4;0.43;0.43;0.42;0.42;0.43;0.42;0.42	1.26	1.26	0.21427	.	.	.	.	.	T	0.34337	0.0894	N	0.14661	0.345	0.09310	N	1	B;P;P;P;D;P;P	0.60160	0.117;0.709;0.709;0.898;0.987;0.709;0.523	B;B;B;B;P;B;B	0.45195	0.003;0.102;0.181;0.27;0.473;0.181;0.077	T	0.14117	-1.0484	9	0.51188	T	0.08	.	6.0883	0.19980	0.0:0.0:1.0:0.0	.	132;152;163;152;218;172;115	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	H	172;218;162;115;152;172;172;172;115;172;218;172;152;172;172;152;218;163;172;115;196;218;172;152;209;163;132	ENSP00000324742:D172H;ENSP00000431775:D218H;ENSP00000433177:D162H;ENSP00000380096:D115H;ENSP00000436937:D152H;ENSP00000450364:D172H;ENSP00000405063:D172H;ENSP00000437020:D172H;ENSP00000447496:D115H;ENSP00000432218:D172H;ENSP00000448354:D218H;ENSP00000432850:D172H;ENSP00000433747:D152H;ENSP00000411958:D172H;ENSP00000432917:D172H;ENSP00000008180:D152H;ENSP00000380099:D218H;ENSP00000446624:D163H;ENSP00000436929:D172H;ENSP00000447812:D115H;ENSP00000447033:D196H;ENSP00000449483:D218H;ENSP00000448683:D172H;ENSP00000446978:D152H;ENSP00000449147:D209H;ENSP00000371648:D163H;ENSP00000447979:D132H	ENSP00000008180:D152H	D	+	1	0	IL32	3059304	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.276000	0.08514	1.050000	0.40346	0.543000	0.68304	GAC		0.577	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		C	3119303	G	C	3119303	3	2	240	1	0	0	0	0	1	0	0	0	7692	1174	41	3	536	3	IL32	16	3119303	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09		3119303	87235450	25	13506											
TBX6	6911	genome.wustl.edu	37	16	30098101	30098101	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr16:30098101C>A	ENST00000395224.2	-	7	970	c.911G>T	c.(910-912)gGa>gTa	p.G304V	TBX6_ENST00000279386.2_Missense_Mutation_p.G304V	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	304					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G304V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						ACACTCACCTCCGCTCCCATA	0.637																																																1	Substitution - Missense(1)	ovary(1)	16											64	52	56					16																	30098101		2197	4300	6497	30005602	SO:0001583	missense	6911			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"T-boxes"	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.911G>T	16.37:g.30098101C>A	ENSP00000378650:p.Gly304Val		30005602	Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830308	0.32329	.	.	ENSG00000149922	ENST00000395224;ENST00000279386	D;D	0.86769	-2.17;-2.17	5.36	3.37	0.38596	.	0.373975	0.26010	N	0.026897	T	0.74680	0.3748	N	0.24115	0.695	0.48341	D	0.999633	B	0.32338	0.365	B	0.30855	0.121	T	0.68202	-0.5471	10	0.27082	T	0.32	.	6.7694	0.23585	0.0:0.7257:0.1798:0.0945	.	304	O95947	TBX6_HUMAN	V	304	ENSP00000378650:G304V;ENSP00000279386:G304V	ENSP00000279386:G304V	G	-	2	0	TBX6	30005602	0.991000	0.36638	1.000000	0.80357	0.805000	0.45488	0.396000	0.20867	1.237000	0.43756	0.555000	0.69702	GGA		0.637	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		A	30098101	C	A	30098101	3	1	240	1	0	0	0	0	1	0	0	0	15662	855	30	3	411	3	TBX6	16	30098101	Missense_Mutation	SNP	C	TCGA-24-1549-01A-01W-0553-09	26978798	30098101	60256652	26	13507											
LRRC50	123872	genome.wustl.edu	37	16	84188205	84188205	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr16:84188205G>C	ENST00000378553.5	+	4	500	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	DNAAF1_ENST00000334315.5_Missense_Mutation_p.E126Q	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	126					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.E126Q(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGAGAACCTGGAAGAGTACAC	0.507																																																1	Substitution - Missense(1)	ovary(1)	16											95	91	92					16																	84188205		2200	4300	6500	82745706	SO:0001583	missense	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.376G>C	16.37:g.84188205G>C	ENSP00000367815:p.Glu126Gln		82745706	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437871	0.83885	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.22539	1.95;1.95	4.99	4.99	0.66335	.	0.057447	0.64402	D	0.000002	T	0.41673	0.1169	L	0.49455	1.56	0.54753	D	0.999986	D	0.89917	1.0	D	0.80764	0.994	T	0.26360	-1.0105	10	0.66056	D	0.02	-11.6661	16.4493	0.83974	0.0:0.0:1.0:0.0	.	126	Q8NEP3	DAAF1_HUMAN	Q	126	ENSP00000334593:E126Q;ENSP00000367815:E126Q	ENSP00000334593:E126Q	E	+	1	0	DNAAF1	82745706	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	7.508000	0.81686	2.306000	0.77630	0.650000	0.86243	GAA		0.507	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		C	84188205	G	C	84188205	3	2	240	1	0	0	0	0	1	0	0	0	9009	1175	41	3	390	3	LRRC50	16	84188205	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09	54090104	84188205	6166548	27	13508											
PTPRM	5797	genome.wustl.edu	37	18	7949198	7949198	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr18:7949198C>T	ENST00000332175.8	+	6	1720	c.683C>T	c.(682-684)gCt>gTt	p.A228V	PTPRM_ENST00000400053.4_Missense_Mutation_p.A166V|PTPRM_ENST00000444013.1_Missense_Mutation_p.A15V|PTPRM_ENST00000580170.1_Missense_Mutation_p.A228V|PTPRM_ENST00000400060.4_Missense_Mutation_p.A228V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	228	Ig-like C2-type.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A228V(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTGCGAGATGCTCCTCTGAAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	18											129	114	119					18																	7949198		2203	4300	6503	7939198	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.683C>T	18.37:g.7949198C>T	ENSP00000331418:p.Ala228Val		7939198	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329961	0.41297	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.77620	-1.11;-1.11;-1.11;0.86	5.86	5.0	0.66597	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.051084	0.85682	D	0.000000	T	0.60766	0.2294	N	0.24115	0.695	0.45403	D	0.998389	P;B;B	0.34757	0.467;0.002;0.002	B;B;B	0.19391	0.025;0.002;0.002	T	0.59968	-0.7354	10	0.17369	T	0.5	.	15.2825	0.73797	0.0:0.933:0.0:0.067	.	15;228;228	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	V	228;228;166;15	ENSP00000331418:A228V;ENSP00000382933:A228V;ENSP00000382927:A166V;ENSP00000387608:A15V	ENSP00000331418:A228V	A	+	2	0	PTPRM	7939198	1.000000	0.71417	0.975000	0.42487	0.935000	0.57460	4.727000	0.61993	1.631000	0.50456	0.650000	0.86243	GCT		0.463	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			T	7949198	C	T	7949198	3	4	240	1	0	0	0	0	1	0	0	0	12809	797	28	2	705	2	PTPRM	18	7949198	Missense_Mutation	SNP	C	TCGA-24-1549-01A-01W-0553-09		7949198	70128050	28	13509											
ZNF208	7757	genome.wustl.edu	37	19	22155079	22155079	+	Silent	SNP	A	A	G			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr19:22155079A>G	ENST00000397126.4	-	4	2905	c.2757T>C	c.(2755-2757)tgT>tgC	p.C919C	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	919					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C819C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTCTTCACATTTGTAGG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	19											51	54	53					19																	22155079		2094	4230	6324	21946919	SO:0001819	synonymous_variant	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2757T>C	19.37:g.22155079A>G			21946919		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22155079	A	G	22155079	2	3	240	1	0	0	0	0	0	0	0	1	17766	157	6	4		4	ZNF208	19	22155079	Silent	SNP	A	TCGA-24-1549-01A-01W-0553-09		22155079	36973904	29	13510											
C20orf26	26074	genome.wustl.edu	37	20	20269566	20269566	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr20:20269566G>A	ENST00000245957.5	+	23	3186	c.3110G>A	c.(3109-3111)gGa>gAa	p.G1037E	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1037								p.G1037E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATGTACAAGGGAGCCAAGATT	0.512																																																1	Substitution - Missense(1)	ovary(1)	20											42	34	37					20																	20269566		2203	4300	6503	20217566	SO:0001583	missense	26074																														ENST00000245957.5:c.3110G>A	20.37:g.20269566G>A	ENSP00000245957:p.Gly1037Glu		20217566	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146494	0.21288	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.08282	3.11	5.48	4.52	0.55395	.	0.196102	0.45361	D	0.000366	T	0.15652	0.0377	L	0.42245	1.32	0.80722	D	1	D	0.69078	0.997	P	0.59357	0.856	T	0.04811	-1.0925	10	0.07030	T	0.85	.	16.2638	0.82563	0.0:0.1329:0.8671:0.0	.	1037	Q8NHU2	CT026_HUMAN	E	977;1003;1037	ENSP00000245957:G1037E	ENSP00000245957:G1037E	G	+	2	0	C20orf26	20217566	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.452000	0.52971	1.292000	0.44672	0.650000	0.86243	GGA		0.512	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			A	20269566	G	A	20269566	3	1	240	1	0	0	0	0	1	0	0	0	2106	1174	41	2	3228	2	C20orf26	20	20269566	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09		20269566	42755954	30	13511											
CDH26	60437	genome.wustl.edu	37	20	58569457	58569457	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chr20:58569457C>G	ENST00000244047.5	+	11	1890	c.1579C>G	c.(1579-1581)Ctg>Gtg	p.L527V	CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.L527V|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	527					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L527V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGATCCGGACCTGGAGCCGTT	0.537																																																1	Substitution - Missense(1)	ovary(1)	20											66	62	63					20																	58569457		2203	4300	6503	58002852	SO:0001583	missense	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1579C>G	20.37:g.58569457C>G	ENSP00000244047:p.Leu527Val		58002852	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		.	.	.	.	.	.	.	.	.	.	C	15.00	2.702564	0.48307	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61510	0.1;0.1	4.58	3.51	0.40186	Cadherin-like (1);	0.528138	0.17536	N	0.170701	T	0.53029	0.1771	M	0.78344	2.41	0.31566	N	0.656864	P;P	0.40602	0.604;0.723	B;B	0.40901	0.254;0.343	T	0.58289	-0.7662	10	0.27082	T	0.32	.	3.5747	0.07930	0.0:0.6148:0.0:0.3852	.	527;527	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	V	527	ENSP00000244047:L527V;ENSP00000339390:L527V	ENSP00000244047:L527V	L	+	1	2	CDH26	58002852	0.403000	0.25319	0.590000	0.28732	0.479000	0.33129	0.730000	0.26043	2.071000	0.62044	0.655000	0.94253	CTG		0.537	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		G	58569457	C	G	58569457	3	3	240	1	0	0	0	0	1	0	0	0	3110	680	24	3	1621	3	CDH26	20	58569457	Missense_Mutation	SNP	C	TCGA-24-1549-01A-01W-0553-09	38299891	58569457	4456063	31	13512											
KDM5C	8242	genome.wustl.edu	37	X	53230865	53230865	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chrX:53230865G>A	ENST00000375401.3	-	14	2460	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	KDM5C_ENST00000375383.3_Missense_Mutation_p.S602F|KDM5C_ENST00000452825.3_Missense_Mutation_p.S576F|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000404049.3_Missense_Mutation_p.S642F|KDM5C_ENST00000375379.3_Missense_Mutation_p.S643F	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	643					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.S643F(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTCCTCATGGGAGAAGACGCA	0.567			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Substitution - Missense(1)	ovary(1)	X											61	53	56					X																	53230865		2203	4300	6503	53247590	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1928C>T	X.37:g.53230865G>A	ENSP00000364550:p.Ser643Phe		53247590	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931431	0.92389	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	M	0.90309	3.105	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.99	D;P;P	0.64042	0.921;0.759;0.836	D	0.88958	0.3391	10	0.87932	D	0	-12.1331	15.8095	0.78547	0.0:0.0:1.0:0.0	.	576;642;643	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	F	576;643;642;643;602	ENSP00000445176:S576F;ENSP00000364550:S643F;ENSP00000385394:S642F;ENSP00000364528:S643F;ENSP00000364532:S602F	ENSP00000364528:S643F	S	-	2	0	KDM5C	53247590	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.869000	0.99810	2.331000	0.79229	0.600000	0.82982	TCC		0.567	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53230865	G	A	53230865	3	1	240	1	0	0	0	0	1	0	0	0	8135	1174	41	2	2904	2	KDM5C	23	53230865	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09		53230865	102039695	32	13513											
OPHN1	4983	genome.wustl.edu	37	X	67283809	67283809	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	T	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chrX:67283809G>T	ENST00000355520.5	-	21	2686	c.2045C>A	c.(2044-2046)aCc>aAc	p.T682N	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	682	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.T682N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GGTGATCTTGGTCCCTCCATC	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											78	59	66					X																	67283809		2203	4300	6503	67200534	SO:0001583	missense	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2045C>A	X.37:g.67283809G>T	ENSP00000347710:p.Thr682Asn		67200534	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	3.819	-0.038092	0.07497	.	.	ENSG00000079482	ENST00000355520	T	0.42900	0.96	4.9	2.03	0.26663	.	0.909070	0.09418	N	0.804851	T	0.20861	0.0502	N	0.08118	0	0.54753	D	0.999988	B	0.22604	0.072	B	0.14023	0.01	T	0.06092	-1.0846	10	0.26408	T	0.33	.	6.1452	0.20280	0.1045:0.3579:0.5375:0.0	.	682	O60890	OPHN1_HUMAN	N	682	ENSP00000347710:T682N	ENSP00000347710:T682N	T	-	2	0	OPHN1	67200534	0.997000	0.39634	0.813000	0.32504	0.301000	0.27625	0.895000	0.28363	0.101000	0.17610	0.506000	0.49869	ACC		0.617	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		T	67283809	G	T	67283809	3	4	240	1	0	0	0	0	1	0	0	0	10875	1261	44	3	379	3	OPHN1	23	67283809	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09	14052944	67283809	87986751	33	13514											
SLITRK2	84631	genome.wustl.edu	37	X	144905177	144905177	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1549-01A-01W-0553-09	TCGA-24-1549-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b2e252bd-895f-4b28-9367-dd527331010f	e9cf31df-6b25-4480-9639-61947701e883	g.chrX:144905177G>A	ENST00000370490.1	+	1	5489	c.1234G>A	c.(1234-1236)Gca>Aca	p.A412T	SLITRK2_ENST00000447897.2_Missense_Mutation_p.A412T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.A412T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A412T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A412T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	412					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.A412T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CAACAGGATTGCAGTCATTCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											113	108	110					X																	144905177		2203	4300	6503	144712869	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1234G>A	X.37:g.144905177G>A	ENSP00000359521:p.Ala412Thr		144712869	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423288	0.43020	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.49	5.49	0.81192	.	0.055575	0.64402	D	0.000001	T	0.29684	0.0741	N	0.01438	-0.865	0.54753	D	0.999985	P	0.38223	0.623	P	0.44772	0.46	T	0.39143	-0.9628	10	0.02654	T	1	-5.8855	15.6062	0.76672	0.0:0.0:1.0:0.0	.	412	Q9H156	SLIK2_HUMAN	T	412	ENSP00000334374:A412T;ENSP00000411681:A412T;ENSP00000359521:A412T;ENSP00000397015:A412T;ENSP00000407347:A412T;ENSP00000412010:A412T	ENSP00000334374:A412T	A	+	1	0	SLITRK2	144712869	1.000000	0.71417	0.878000	0.34440	0.896000	0.52359	4.709000	0.61867	2.280000	0.76307	0.594000	0.82650	GCA		0.403	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		A	144905177	G	A	144905177	3	1	240	1	0	0	0	0	1	0	0	0	14746	1319	46	2	1236	2	SLITRK2	23	144905177	Missense_Mutation	SNP	G	TCGA-24-1549-01A-01W-0553-09	77621368	144905177	10365383	34	13515											
EIF3I	56063	broad.mit.edu	37	1	32688148	32688148	+	5'Flank	SNP	C	C	G			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr1:32688148C>G	ENST00000344461.3	-	0	0				TMEM234_ENST00000373593.1_5'Flank|EIF3I_ENST00000373586.1_Missense_Mutation_p.L5V|TMEM234_ENST00000545122.1_5'Flank|TMEM234_ENST00000309777.6_5'Flank|EIF3I_ENST00000471486.1_3'UTR			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)		p.L5V(1)		kidney(2)|lung(3)	5						GAAGCCGATCCTACTGCAGGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											77	78	78					1																	32688148		2203	4300	6503	32460735	SO:0001631	upstream_gene_variant	8668			AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 91"	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32688148C>G	Exception_encountered		32460735	B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37		.	.	.	.	.	.	.	.	.	.	C	15.69	2.906706	0.52333	.	.	ENSG00000084623	ENST00000355082;ENST00000373586	T;T	0.80566	-1.39;-1.39	4.1	2.22	0.28083	.	0.157358	0.43919	D	0.000514	T	0.69160	0.3080	N	0.26162	0.8	0.58432	D	0.999996	B	0.25048	0.117	B	0.30716	0.119	T	0.62445	-0.6853	10	0.42905	T	0.14	-9.9483	10.2458	0.43341	0.0:0.8367:0.0:0.1633	.	5	Q13347	EIF3I_HUMAN	V	5	ENSP00000347194:L5V;ENSP00000362688:L5V	ENSP00000347194:L5V	L	+	1	2	EIF3I	32460735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.869000	0.48444	0.504000	0.28082	0.557000	0.71058	CTA		0.562	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		G	32688148	C	G	32688148	1	3	241	0	1	0	0	0	0	0	0	0	5019	680	24	3		3	EIF3I	1	32688148	5'Flank	SNP	C	TCGA-24-1551-01A-01W-0551-08		32688148	216562473	1	13516											
PAX8	7849	broad.mit.edu	37	2	113999127	113999127	+	Splice_Site	SNP	C	C	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr2:113999127C>A	ENST00000429538.3	-	7	972		c.e7+1		AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263334.5_Splice_Site|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Splice_Site|PAX8_ENST00000263335.7_Splice_Site|PAX8_ENST00000348715.5_Splice_Site|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000333145.5_RNA|RP11-65I12.1_ENST00000553319.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8						anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CAGCTTCTCACCTGCTCGCCT	0.607			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	1	Unknown(1)	ovary(1)	2											16	19	18					2																	113999127		1992	4166	6158	113715597	SO:0001630	splice_region_variant	7849			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.777+1G>T	2.37:g.113999127C>A			113715597	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515319	0.64634	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000468980;ENST00000263334	.	.	.	4.7	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1782	0.54198	0.1723:0.8277:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PAX8	113715597	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.532000	0.73825	1.082000	0.41137	0.650000	0.86243	.		0.607	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5		Intron	A	113999127	C	A	113999127	5	1	241	1	0	0	0	0	0	0	1	0	11485	521	18	3	473	3	PAX8	2	113999127	Splice_Site	SNP	C	TCGA-24-1551-01A-01W-0551-08		113999127	129200246	2	13517											
ZCWPW2	152098	broad.mit.edu	37	3	28454757	28454757	+	Silent	SNP	A	A	G			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr3:28454757A>G	ENST00000383768.2	+	3	386	c.198A>G	c.(196-198)tcA>tcG	p.S66S	ZCWPW2_ENST00000421010.1_Silent_p.S66S			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	66							zinc ion binding (GO:0008270)	p.S66S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						ACACTGATTCAAGATATAATA	0.383																																																1	Substitution - coding silent(1)	ovary(1)	3											127	123	124					3																	28454757		2203	4300	6503	28429761	SO:0001819	synonymous_variant	152098			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.198A>G	3.37:g.28454757A>G			28429761		Silent	SNP	ENST00000383768.2	37	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	A	8.679	0.904772	0.17760	.	.	ENSG00000206559	ENST00000428875	.	.	.	5.41	1.52	0.23074	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.31696	N	0.641263	.	.	.	.	.	.	T	0.39961	-0.9588	4	.	.	.	1.2678	4.6574	0.12624	0.6528:0.171:0.1761:0.0	.	.	.	.	E	50	.	.	K	+	1	0	ZCWPW2	28429761	0.871000	0.30034	0.476000	0.27291	0.925000	0.55904	1.250000	0.32850	0.016000	0.14998	0.533000	0.62120	AAG		0.383	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		G	28454757	A	G	28454757	2	3	241	1	0	0	0	0	0	0	0	1	17598	117	5	4		4	ZCWPW2	3	28454757	Silent	SNP	A	TCGA-24-1551-01A-01W-0551-08		28454757	169567673	3	13518											
WDR82	80335	broad.mit.edu	37	3	52295435	52295435	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr3:52295435C>G	ENST00000296490.3	-	4	668	c.387G>C	c.(385-387)aaG>aaC	p.K129N		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	129					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)	p.K129N(1)							BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		GTCGAATGGTCTTATCAAGAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											73	71	71					3																	52295435		1899	4111	6010	52270475	SO:0001583	missense	80335			AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"WD repeat domain containing"	28826	protein-coding gene	gene with protein product		611059	"transmembrane protein 113"	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.387G>C	3.37:g.52295435C>G	ENSP00000296490:p.Lys129Asn		52270475	A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	11.83	1.757159	0.31137	.	.	ENSG00000164091	ENST00000296490;ENST00000469000;ENST00000463624	T;T;T	0.60171	0.21;0.21;0.21	5.23	0.87	0.19102	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.085212	0.85682	D	0.000000	T	0.35098	0.0920	N	0.13371	0.34	0.58432	D	0.999998	B;B	0.14438	0.003;0.01	B;B	0.22386	0.039;0.011	T	0.05305	-1.0893	10	0.29301	T	0.29	.	8.1765	0.31285	0.0:0.482:0.0:0.518	.	129;15	Q6UXN9;C9JBU3	WDR82_HUMAN;.	N	129;15;15	ENSP00000296490:K129N;ENSP00000420779:K15N;ENSP00000417313:K15N	ENSP00000296490:K129N	K	-	3	2	WDR82	52270475	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.450000	0.21762	0.317000	0.23160	-0.234000	0.12200	AAG		0.438	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		G	52295435	C	G	52295435	3	3	241	1	0	0	0	0	1	0	0	0	17331	912	32	3	578	3	WDR82	3	52295435	Missense_Mutation	SNP	C	TCGA-24-1551-01A-01W-0551-08	23840678	52295435	145726995	4	13519											
ADAMTS16	170690	broad.mit.edu	37	5	5318344	5318344	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr5:5318344C>T	ENST00000274181.7	+	22	3647	c.3509C>T	c.(3508-3510)tCg>tTg	p.S1170L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1170	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1170L(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGAAGCCTTCGGCCTCCCTG	0.657																																																1	Substitution - Missense(1)	ovary(1)	5											29	34	32					5																	5318344		1997	4158	6155	5371344	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3509C>T	5.37:g.5318344C>T	ENSP00000274181:p.Ser1170Leu		5371344	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	1.513	-0.548858	0.04024	.	.	ENSG00000145536	ENST00000274181	T	0.16897	2.31	4.69	-4.57	0.03421	.	2.495180	0.01515	N	0.018086	T	0.09069	0.0224	N	0.13140	0.3	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23368	-1.0190	10	0.23891	T	0.37	.	5.434	0.16469	0.3896:0.1426:0.0:0.4678	.	1170	Q8TE57	ATS16_HUMAN	L	1170	ENSP00000274181:S1170L	ENSP00000274181:S1170L	S	+	2	0	ADAMTS16	5371344	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.238000	0.02919	-0.798000	0.04444	-2.570000	0.00171	TCG		0.657	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5318344	C	T	5318344	3	4	241	1	0	0	0	0	1	0	0	0	261	893	31	1	3595	1	ADAMTS16	5	5318344	Missense_Mutation	SNP	C	TCGA-24-1551-01A-01W-0551-08		5318344	175596916	5	13520											
FBXW11	23291	broad.mit.edu	37	5	171318554	171318554	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr5:171318554G>A	ENST00000265094.5	-	6	843	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	FBXW11_ENST00000425623.2_Missense_Mutation_p.R204C|FBXW11_ENST00000296933.6_Missense_Mutation_p.R223C|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.R202C	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	236					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R236C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTTCAGAGCGGCACTGAATC	0.378																																																1	Substitution - Missense(1)	ovary(1)	5											81	76	78					5																	171318554		2203	4300	6503	171251159	SO:0001583	missense	23291			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.706C>T	5.37:g.171318554G>A	ENSP00000265094:p.Arg236Cys		171251159	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979682	0.74360	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.35789	1.29;2.24;1.29;1.29	4.96	4.96	0.65561	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	L	0.45581	1.43	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;P	0.68765	0.914;0.86;0.96;0.901	T	0.52185	-0.8609	10	0.87932	D	0	-9.2791	13.1763	0.59629	0.0:0.0:0.8402:0.1598	.	204;202;236;223	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	C	223;236;202;204	ENSP00000296933:R223C;ENSP00000265094:R236C;ENSP00000377391:R202C;ENSP00000444929:R204C	ENSP00000265094:R236C	R	-	1	0	FBXW11	171251159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.189000	0.65098	2.465000	0.83290	0.591000	0.81541	CGC		0.378	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		A	171318554	G	A	171318554	3	1	241	1	0	0	0	0	1	0	0	0	5764	1116	39	1	950	1	FBXW11	5	171318554	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08	166000210	171318554	9596706	6	13521											
TRRAP	8295	broad.mit.edu	37	7	98553852	98553852	+	Silent	SNP	C	C	T			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr7:98553852C>T	ENST00000359863.4	+	41	6209	c.6000C>T	c.(5998-6000)atC>atT	p.I2000I	TRRAP_ENST00000355540.3_Silent_p.I1982I|TRRAP_ENST00000446306.3_Silent_p.I1981I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2000					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.I1982I(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTCACCATCGAGCAGAGGC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	7											49	43	45					7																	98553852		2203	4300	6503	98391788	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6000C>T	7.37:g.98553852C>T			98391788	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	7.286	0.610073	0.14066	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.26	-8.34	0.00988	.	.	.	.	.	T	0.42743	0.1216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46830	-0.9163	4	.	.	.	.	4.8123	0.13349	0.1718:0.1736:0.0799:0.5748	.	.	.	.	L	1722	.	.	S	+	2	0	TRRAP	98391788	0.000000	0.05858	0.789000	0.31954	0.833000	0.47200	-3.148000	0.00583	-1.466000	0.01897	-2.317000	0.00253	TCG		0.637	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98553852	C	T	98553852	2	4	241	1	0	0	0	0	0	0	0	1	16601	874	31	1		1	TRRAP	7	98553852	Silent	SNP	C	TCGA-24-1551-01A-01W-0551-08		98553852	60584811	7	13522											
MOGAT3	346606	broad.mit.edu	37	7	100842084	100842084	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr7:100842084C>A	ENST00000223114.4	-	4	482	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	MOGAT3_ENST00000379423.3_Missense_Mutation_p.D106Y|MOGAT3_ENST00000440203.2_Missense_Mutation_p.D106Y	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	106					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.D106Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TAGTTCCGATCCGGGGGCAGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	7											68	74	72					7																	100842084		2203	4300	6503	100628804	SO:0001583	missense	346606			AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.316G>T	7.37:g.100842084C>A	ENSP00000223114:p.Asp106Tyr		100628804	Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	15.73	2.918482	0.52546	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	D;T;T	0.94232	-3.38;2.37;2.37	5.33	-2.1	0.07210	.	0.377696	0.31660	N	0.007262	D	0.94742	0.8303	M	0.85197	2.74	0.09310	N	1	D;D	0.63880	0.993;0.975	P;P	0.61592	0.891;0.686	D	0.88906	0.3356	10	0.72032	D	0.01	-16.6988	6.4173	0.21723	0.0:0.463:0.122:0.415	.	106;106	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	Y	106	ENSP00000223114:D106Y;ENSP00000403756:D106Y;ENSP00000368734:D106Y	ENSP00000223114:D106Y	D	-	1	0	MOGAT3	100628804	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.165000	0.09968	-0.330000	0.08514	-0.150000	0.13652	GAT		0.592	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		A	100842084	C	A	100842084	3	1	241	1	0	0	0	0	1	0	0	0	9696	855	30	3	725	3	MOGAT3	7	100842084	Missense_Mutation	SNP	C	TCGA-24-1551-01A-01W-0551-08	2288232	100842084	58296579	8	13523											
WDR91	29062	broad.mit.edu	37	7	134880941	134880941	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr7:134880941C>G	ENST00000354475.4	-	8	1230	c.1199G>C	c.(1198-1200)gGa>gCa	p.G400A	WDR91_ENST00000344400.5_Missense_Mutation_p.G400A|WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Missense_Mutation_p.G365A|AC009542.2_ENST00000412549.2_RNA	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	400								p.G400A(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTCCTCCTGTCCCAGCACAAT	0.622																																																1	Substitution - Missense(1)	ovary(1)	7											76	75	75					7																	134880941		2203	4300	6503	134531481	SO:0001583	missense	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1199G>C	7.37:g.134880941C>G	ENSP00000346466:p.Gly400Ala		134531481	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555934	0.27827	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.63417	1.58;-0.04;0.53	5.79	5.79	0.91817	.	0.124972	0.64402	D	0.000001	T	0.49762	0.1576	L	0.28274	0.84	0.39330	D	0.965408	B	0.02656	0.0	B	0.04013	0.001	T	0.48581	-0.9023	10	0.08599	T	0.76	-7.4019	19.6424	0.95763	0.0:1.0:0.0:0.0	.	400	A4D1P6	WDR91_HUMAN	A	400;400;365	ENSP00000340877:G400A;ENSP00000346466:G400A;ENSP00000392555:G365A	ENSP00000340877:G400A	G	-	2	0	WDR91	134531481	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.790000	0.85794	2.722000	0.93159	0.655000	0.94253	GGA		0.622	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		G	134880941	C	G	134880941	3	3	241	1	0	0	0	0	1	0	0	0	17338	855	30	3	1076	3	WDR91	7	134880941	Missense_Mutation	SNP	C	TCGA-24-1551-01A-01W-0551-08	34038857	134880941	24257722	9	13524											
SPATC1	375686	broad.mit.edu	37	8	145095090	145095090	+	Silent	SNP	C	C	T			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr8:145095090C>T	ENST00000377470.3	+	2	594	c.492C>T	c.(490-492)acC>acT	p.T164T	SPATC1_ENST00000447830.2_Silent_p.T164T	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	164						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T73T(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACTGGCACCCTGACTCCCA	0.667																																																1	Substitution - coding silent(1)	ovary(1)	8											29	25	26					8																	145095090		2202	4299	6501	145167078	SO:0001819	synonymous_variant	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.492C>T	8.37:g.145095090C>T			145167078	B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	CCDS6413.2																																																																																				0.667	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		T	145095090	C	T	145095090	2	4	241	1	0	0	0	0	0	0	0	1	15019	610	22	2		2	SPATC1	8	145095090	Silent	SNP	C	TCGA-24-1551-01A-01W-0551-08		145095090	1268932	10	13525											
ZNF7	7553	broad.mit.edu	37	8	146067488	146067488	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr8:146067488G>T	ENST00000528372.1	+	5	1236	c.996G>T	c.(994-996)agG>agT	p.R332S	ZNF7_ENST00000325241.6_Missense_Mutation_p.R332S|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.R236S|ZNF7_ENST00000446747.2_Missense_Mutation_p.R343S			P17097	ZNF7_HUMAN	zinc finger protein 7	332					multicellular organismal development (GO:0007275)|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.R332S(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CAGGAGAGAGGCCCTATGGTT	0.547																																																1	Substitution - Missense(1)	ovary(1)	8											65	62	63					8																	146067488		2203	4300	6503	146038292	SO:0001583	missense	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.996G>T	8.37:g.146067488G>T	ENSP00000432724:p.Arg332Ser		146038292	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481912	0.63849	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	4.91	1.92	0.25849	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000160	T	0.16342	0.0393	L	0.56340	1.77	0.80722	D	1	P;P	0.49090	0.919;0.919	B;B	0.40256	0.324;0.324	T	0.03374	-1.1043	9	.	.	.	-30.1067	5.5907	0.17299	0.4793:0.0:0.5207:0.0	.	343;332	B4DT08;P17097	.;ZNF7_HUMAN	S	332;343;236;332	ENSP00000320627:R332S;ENSP00000393260:R343S;ENSP00000439424:R236S;ENSP00000432724:R332S	.	R	+	3	2	ZNF7	146038292	0.000000	0.05858	1.000000	0.80357	0.920000	0.55202	-0.362000	0.07602	0.681000	0.31386	0.455000	0.32223	AGG		0.547	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		T	146067488	G	T	146067488	3	4	241	1	0	0	0	0	1	0	0	0	18102	1194	42	3	1010	3	ZNF7	8	146067488	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08	972398	146067488	296534	11	13526											
ZNF518A	9849	broad.mit.edu	37	10	97916343	97916343	+	RNA	SNP	G	G	C			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr10:97916343G>C	ENST00000534948.1	+	0	1121							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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.K88N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCAGTATAAAGACTGTAAGCT	0.338																																																1	Substitution - Missense(1)	ovary(1)	10											89	88	89					10																	97916343		1830	4079	5909	97906333			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916343G>C			97906333	A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.338	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		C	97916343	G	C	97916343	1	2	241	0	1	0	0	0	0	0	0	0	17962	933	33	3		3	ZNF518A	10	97916343	RNA	SNP	G	TCGA-24-1551-01A-01W-0551-08		97916343	37618404	12	13527											
TLL2	7093	broad.mit.edu	37	10	98205874	98205874	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr10:98205874T>G	ENST00000357947.3	-	3	563	c.338A>C	c.(337-339)gAc>gCc	p.D113A	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	113					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D113A(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGTGCCAGTGTCCATGGCTGT	0.502																																																1	Substitution - Missense(1)	ovary(1)	10											241	206	218					10																	98205874		2203	4300	6503	98195864	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.338A>C	10.37:g.98205874T>G	ENSP00000350630:p.Asp113Ala		98195864	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.645190	0.00792	.	.	ENSG00000095587	ENST00000357947	T	0.12879	2.64	4.98	3.81	0.43845	.	1.012530	0.07951	N	0.980831	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.15870	0.014	T	0.39563	-0.9608	10	0.08837	T	0.75	.	8.1255	0.30997	0.1792:0.0:0.0:0.8208	.	113	Q9Y6L7	TLL2_HUMAN	A	113	ENSP00000350630:D113A	ENSP00000350630:D113A	D	-	2	0	TLL2	98195864	0.019000	0.18553	0.003000	0.11579	0.013000	0.08279	0.873000	0.28052	0.812000	0.34326	0.454000	0.30748	GAC		0.502	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			G	98205874	T	G	98205874	3	3	241	1	0	0	0	0	1	0	0	0	15946	1667	58	5	2785	5	TLL2	10	98205874	Missense_Mutation	SNP	T	TCGA-24-1551-01A-01W-0551-08	289531	98205874	37328873	13	13528											
C10orf137	26098	broad.mit.edu	37	10	127424457	127424457	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr10:127424457C>A	ENST00000356792.4	+	13	1974	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	C10orf137_ENST00000337623.3_Missense_Mutation_p.S547Y	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S547Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAATACAAATCTATTCATCAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	10											75	86	82					10																	127424457		2203	4299	6502	127414447	SO:0001583	missense	26098																														ENST00000356792.4:c.1742C>A	10.37:g.127424457C>A	ENSP00000349244:p.Ser581Tyr		127414447	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952466	0.73787	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623;ENST00000368813	T;T;T	0.62498	2.73;2.73;0.02	5.86	4.95	0.65309	.	0.164006	0.56097	D	0.000029	T	0.75459	0.3852	L	0.52573	1.65	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;D;D	0.87578	0.964;0.998;0.914;0.996	T	0.78645	-0.2123	10	0.87932	D	0	.	17.2383	0.87006	0.0:0.8741:0.1259:0.0	.	581;581;547;581	F8W695;Q3B7T1;Q3B7T1-5;Q3B7T1-3	.;EDRF1_HUMAN;.;.	Y	581;581;547;1	ENSP00000349244:S581Y;ENSP00000336727:S547Y;ENSP00000357803:S1Y	ENSP00000336727:S547Y	S	+	2	0	C10orf137	127414447	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	5.657000	0.67996	1.589000	0.49982	0.650000	0.86243	TCT		0.313	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			A	127424457	C	A	127424457	3	1	241	1	0	0	0	0	1	0	0	0	1594	913	32	3	1686	3	C10orf137	10	127424457	Missense_Mutation	SNP	C	TCGA-24-1551-01A-01W-0551-08	29218583	127424457	8110290	14	13529											
USP35	57558	broad.mit.edu	37	11	77907406	77907406	+	Silent	SNP	C	C	T			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr11:77907406C>T	ENST00000529308.1	+	2	376	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_5'Flank|USP35_ENST00000441408.2_5'Flank|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	39					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.L39L(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGAGCAGTGCCTGGCGCTGCT	0.761																																																1	Substitution - coding silent(1)	ovary(1)	11											17	21	20					11																	77907406		2048	4179	6227	77585054	SO:0001819	synonymous_variant	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.115C>T	11.37:g.77907406C>T			77585054		Silent	SNP	ENST00000529308.1	37	CCDS41693.1																																																																																				0.761	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		T	77907406	C	T	77907406	2	4	241	1	0	0	0	0	0	0	0	1	17066	680	24	2		2	USP35	11	77907406	Silent	SNP	C	TCGA-24-1551-01A-01W-0551-08		77907406	57099110	15	13530											
GAB2	9846	broad.mit.edu	37	11	77937726	77937726	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr11:77937726G>T	ENST00000361507.4	-	4	1077	c.992C>A	c.(991-993)aCt>aAt	p.T331N	GAB2_ENST00000340149.2_Missense_Mutation_p.T293N|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	331					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.T331N(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTTGTCCAGAGTGAATGTCCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	11											65	63	63					11																	77937726		2200	4292	6492	77615374	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.992C>A	11.37:g.77937726G>T	ENSP00000354952:p.Thr331Asn		77615374	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800786	0.70567	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.16897	2.31;2.31	5.21	5.21	0.72293	.	0.106606	0.39274	U	0.001401	T	0.35595	0.0937	L	0.54323	1.7	0.47123	D	0.999323	D	0.69078	0.997	P	0.60789	0.879	T	0.01456	-1.1350	10	0.41790	T	0.15	-12.5974	19.1199	0.93358	0.0:0.0:1.0:0.0	.	331	Q9UQC2	GAB2_HUMAN	N	293;331	ENSP00000343959:T293N;ENSP00000354952:T331N	ENSP00000343959:T293N	T	-	2	0	GAB2	77615374	1.000000	0.71417	0.994000	0.49952	0.930000	0.56654	6.722000	0.74735	2.598000	0.87819	0.561000	0.74099	ACT		0.592	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		T	77937726	G	T	77937726	3	4	241	1	0	0	0	0	1	0	0	0	6149	1029	36	3	1066	3	GAB2	11	77937726	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08	30320	77937726	57068790	16	13531											
AMOTL1	154810	broad.mit.edu	37	11	94533388	94533388	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr11:94533388G>C	ENST00000433060.2	+	3	1173	c.1032G>C	c.(1030-1032)gaG>gaC	p.E344D	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E294D|AMOTL1_ENST00000317837.9_Missense_Mutation_p.E344D	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	344					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.E344D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGCTCCACGAGATGGTCAAGC	0.562																																																1	Substitution - Missense(1)	ovary(1)	11											116	117	117					11																	94533388		2009	4172	6181	94173036	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1032G>C	11.37:g.94533388G>C	ENSP00000387739:p.Glu344Asp		94173036	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004461	0.19199	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.14022	2.54;2.54;2.54	5.13	2.0	0.26442	.	0.171732	0.40064	N	0.001200	T	0.04452	0.0122	N	0.04043	-0.29	0.29278	N	0.870209	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.32134	-0.9918	9	.	.	.	-16.6905	3.1098	0.06355	0.0805:0.2401:0.2887:0.3907	.	294;344	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	D	294;350;344;344	ENSP00000320968:E294D;ENSP00000323474:E344D;ENSP00000387739:E344D	.	E	+	3	2	AMOTL1	94173036	0.965000	0.33210	0.998000	0.56505	0.931000	0.56810	-0.023000	0.12456	0.545000	0.28902	0.555000	0.69702	GAG		0.562	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		C	94533388	G	C	94533388	3	2	241	1	0	0	0	0	1	0	0	0	583	933	33	3	1042	3	AMOTL1	11	94533388	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08	16595662	94533388	40473128	17	13532											
AASDHPPT	60496	broad.mit.edu	37	11	105948610	105948610	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr11:105948610A>G	ENST00000278618.4	+	1	395	c.173A>G	c.(172-174)aAg>aGg	p.K58R	KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	58					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CGGGACGCTAAGGCAGCCATG	0.612																																																0			11											80	86	84					11																	105948610		2201	4299	6500	105453820	SO:0001583	missense	60496			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.173A>G	11.37:g.105948610A>G	ENSP00000278618:p.Lys58Arg		105453820	B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681733	0.68042	.	.	ENSG00000149313	ENST00000278618	.	.	.	5.35	5.35	0.76521	4&apos (1);-phosphopantetheinyl transferase (1);	0.112355	0.64402	D	0.000011	T	0.49660	0.1570	L	0.35341	1.055	0.53688	D	0.999978	B	0.16802	0.019	B	0.15870	0.014	T	0.44467	-0.9326	9	0.12103	T	0.63	.	14.991	0.71387	1.0:0.0:0.0:0.0	.	58	Q9NRN7	ADPPT_HUMAN	R	58	.	ENSP00000278618:K58R	K	+	2	0	AASDHPPT	105453820	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.783000	0.91813	2.022000	0.59522	0.460000	0.39030	AAG		0.612	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		G	105948610	A	G	105948610	3	3	241	1	0	0	0	0	1	0	0	0	23	72	3	4	175	4	AASDHPPT	11	105948610	Missense_Mutation	SNP	A	TCGA-24-1551-01A-01W-0551-08	11415222	105948610	29057906	18	13533											
SIK3	23387	broad.mit.edu	37	11	116734491	116734491	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr11:116734491G>A	ENST00000292055.4	-	15	1713	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C	SIK3_ENST00000446921.2_Missense_Mutation_p.R618C|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.R560C|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.R459C|SIK3_ENST00000375300.1_Missense_Mutation_p.R618C	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	560					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R666C(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGGGAGAAACGCTCCGTAGGG	0.527																																																1	Substitution - Missense(1)	ovary(1)	11											137	137	137					11																	116734491		2201	4296	6497	116239701	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1678C>T	11.37:g.116734491G>A	ENSP00000292055:p.Arg560Cys		116239701	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	29.5|29.5	5.013306|5.013306	0.93346|0.93346	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|D;D;T;T	.|0.82984	.|-1.67;-1.67;-0.97;-1.14	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Protein kinase-like domain (1);	.|0.000000	.|0.42294	.|U	.|0.000721	D|D	0.87740|0.87740	0.6253|0.6253	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.997	D|D	0.88882|0.88882	0.3340|0.3340	5|10	.|0.87932	.|D	.|0	.|.	19.4611|19.4611	0.94918|0.94918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|560;459;560	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	V|C	659;582|618;560;560;459	.|ENSP00000364449:R618C;ENSP00000292055:R560C;ENSP00000438108:R560C;ENSP00000415873:R459C	.|ENSP00000292055:R560C	A|R	-|-	2|1	0|0	SIK3|SIK3	116239701|116239701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.509000|7.509000	0.81698|0.81698	2.592000|2.592000	0.87571|0.87571	0.561000|0.561000	0.74099|0.74099	GCG|CGT		0.527	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		A	116734491	G	A	116734491	3	1	241	1	0	0	0	0	1	0	0	0	14322	1087	38	1	2149	1	SIK3	11	116734491	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08	10785881	116734491	18272025	19	13534											
AKAP11	11215	broad.mit.edu	37	13	42873737	42873737	+	Silent	SNP	T	T	C	rs147436453		TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr13:42873737T>C	ENST00000025301.2	+	8	1030	c.855T>C	c.(853-855)tcT>tcC	p.S285S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	285	Ser-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.S285S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATAGGTCATCTAATGCTTCAG	0.378																																																1	Substitution - coding silent(1)	ovary(1)	13											76	76	76					13																	42873737		2203	4299	6502	41771737	SO:0001819	synonymous_variant	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.855T>C	13.37:g.42873737T>C			41771737	O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	CCDS9383.1																																																																																				0.378	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		C	42873737	T	C	42873737	2	2	241	1	0	0	0	0	0	0	0	1	447	1509	53	4		4	AKAP11	13	42873737	Silent	SNP	T	TCGA-24-1551-01A-01W-0551-08		42873737	72296141	20	13535											
SNAI3	333929	broad.mit.edu	37	16	88747606	88747606	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr16:88747606A>G	ENST00000332281.5	-	2	679	c.593T>C	c.(592-594)cTc>cCc	p.L198P	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	198					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L198P(1)		NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GTGCATCTTGAGGGCACCCAG	0.647																																					Colon(27;366 710 19748 23199 27567)											1	Substitution - Missense(1)	ovary(1)	16											116	104	108					16																	88747606		2198	4300	6498	87275107	SO:0001583	missense	333929			BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.593T>C	16.37:g.88747606A>G	ENSP00000327968:p.Leu198Pro		87275107	Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268769	0.80469	.	.	ENSG00000185669	ENST00000332281	T	0.75260	-0.92	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.90844	0.7124	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93743	0.7052	10	0.87932	D	0	-44.2166	13.3131	0.60390	1.0:0.0:0.0:0.0	.	198	Q3KNW1	SNAI3_HUMAN	P	198	ENSP00000327968:L198P	ENSP00000327968:L198P	L	-	2	0	SNAI3	87275107	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.205000	0.77881	1.855000	0.53841	0.402000	0.26972	CTC		0.647	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			G	88747606	A	G	88747606	3	3	241	1	0	0	0	0	1	0	0	0	14831	304	11	4	293	4	SNAI3	16	88747606	Missense_Mutation	SNP	A	TCGA-24-1551-01A-01W-0551-08		88747606	1607147	21	13536											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	7518264	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	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	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	241	1	0	0	0	0	1	0	0	0	16381	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08		7577539	73617671	22	13537											
NETO1	81832	broad.mit.edu	37	18	70451060	70451060	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr18:70451060T>A	ENST00000327305.6	-	7	1378	c.721A>T	c.(721-723)Agt>Tgt	p.S241C	NETO1_ENST00000299430.2_Missense_Mutation_p.S240C|NETO1_ENST00000583169.1_Missense_Mutation_p.S241C	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	241	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.S241C(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCACGGAACTGCTTCCATCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	18											155	137	143					18																	70451060		2203	4300	6503	68602040	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.721A>T	18.37:g.70451060T>A	ENSP00000313088:p.Ser241Cys		68602040	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896648	0.91962	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.19532	2.14;2.14	5.27	5.27	0.74061	CUB (5);	0.000000	0.64402	D	0.000001	T	0.47469	0.1447	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.99	T	0.51212	-0.8734	10	0.87932	D	0	-27.1659	15.5016	0.75703	0.0:0.0:0.0:1.0	.	240;241	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	C	241;240	ENSP00000313088:S241C;ENSP00000299430:S240C	ENSP00000299430:S240C	S	-	1	0	NETO1	68602040	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.841000	0.86834	2.102000	0.63906	0.528000	0.53228	AGT		0.428	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		A	70451060	T	A	70451060	3	1	241	1	0	0	0	0	1	0	0	0	10339	1580	55	5	896	5	NETO1	18	70451060	Missense_Mutation	SNP	T	TCGA-24-1551-01A-01W-0551-08		70451060	7626188	23	13538											
EMR1	2015	broad.mit.edu	37	19	6937605	6937605	+	Silent	SNP	C	C	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr19:6937605C>A	ENST00000312053.4	+	20	2638	c.2601C>A	c.(2599-2601)tcC>tcA	p.S867S	EMR1_ENST00000381407.5_Silent_p.S726S|EMR1_ENST00000450315.3_Silent_p.S690S|EMR1_ENST00000250572.8_Silent_p.S802S|EMR1_ENST00000381404.4_Silent_p.S848S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	867					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S867S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGCCCAGCTCCCAGTCCCAGA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	19											178	145	156					19																	6937605		2203	4300	6503	6888605	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2601C>A	19.37:g.6937605C>A			6888605	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	CCDS12175.1																																																																																				0.567	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			A	6937605	C	A	6937605	2	1	241	1	0	0	0	0	0	0	0	1	5104	610	22	3		3	EMR1	19	6937605	Silent	SNP	C	TCGA-24-1551-01A-01W-0551-08		6937605	52191378	24	13539											
C19orf53	28974	broad.mit.edu	37	19	13885312	13885312	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr19:13885312G>C	ENST00000588234.1	+	1	331	c.21G>C	c.(19-21)aaG>aaC	p.K7N	CTB-5E10.3_ENST00000586894.1_RNA|CTB-5E10.3_ENST00000586297.1_RNA|CTB-5E10.3_ENST00000591826.1_RNA|C19orf53_ENST00000593274.1_5'Flank	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	7								p.K7N(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			GGCAGCGCAAGTTTCAGGCGC	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											16	19	18					19																	13885312		2198	4294	6492	13746312	SO:0001583	missense	28974			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.21G>C	19.37:g.13885312G>C	ENSP00000465432:p.Lys7Asn		13746312	B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365535	0.61513	.	.	ENSG00000104979	ENST00000221576	.	.	.	5.04	1.82	0.25136	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.68953	-0.5273	8	0.87932	D	0	.	6.5531	0.22446	0.2921:0.0:0.7079:0.0	.	7	Q9UNZ5	L10K_HUMAN	N	7	.	ENSP00000221576:K7N	K	+	3	2	C19orf53	13746312	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	0.587000	0.23909	0.334000	0.23590	0.549000	0.68633	AAG		0.642	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		C	13885312	G	C	13885312	3	2	241	1	0	0	0	0	1	0	0	0	1935	1020	36	3	23	3	C19orf53	19	13885312	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08	6947707	13885312	45243671	25	13540											
C19orf53	28974	broad.mit.edu	37	19	13888905	13888905	+	Missense_Mutation	SNP	G	G	A	rs183989129	byFrequency	TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr19:13888905G>A	ENST00000588234.1	+	3	503	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	C19orf53_ENST00000593274.1_Missense_Mutation_p.V22M	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	65								p.V65M(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CGAACATGACGTGGTGATGAA	0.592													G|||	7	0.00139776	0.0053	0	5008	,	,		19240	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19											106	102	103					19																	13888905		2203	4300	6503	13749905	SO:0001583	missense	28974			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.193G>A	19.37:g.13888905G>A	ENSP00000465432:p.Val65Met		13749905	B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	CCDS12298.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	16.56	3.158704	0.57368	.	.	ENSG00000104979	ENST00000221576	.	.	.	4.98	2.71	0.32032	.	0.074103	0.53938	D	0.000055	T	0.45115	0.1326	.	.	.	0.26828	N	0.968644	D	0.69078	0.997	P	0.58210	0.835	T	0.44159	-0.9346	8	0.87932	D	0	.	9.3351	0.38045	0.0:0.1584:0.6774:0.1642	.	65	Q9UNZ5	L10K_HUMAN	M	65	.	ENSP00000221576:V65M	V	+	1	0	C19orf53	13749905	0.991000	0.36638	0.012000	0.15200	0.932000	0.56968	2.075000	0.41538	0.447000	0.26695	0.478000	0.44815	GTG		0.592	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		A	13888905	G	A	13888905	3	1	241	1	0	0	0	0	1	0	0	0	1935	1145	40	1	203	1	C19orf53	19	13888905	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08	3593	13888905	45240078	26	13541											
ZFP112	7771	broad.mit.edu	37	19	44831653	44831653	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr19:44831653T>C	ENST00000337401.4	-	5	2763	c.2675A>G	c.(2674-2676)gAa>gGa	p.E892G	ZNF112_ENST00000354340.4_Missense_Mutation_p.E886G|ZNF112_ENST00000536500.1_Missense_Mutation_p.E909G	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	892					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E886G(1)									ACCATAGTCTTCGCTTTTATA	0.383																																																1	Substitution - Missense(1)	ovary(1)	19											72	68	69					19																	44831653		2203	4299	6502	49523493	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2675A>G	19.37:g.44831653T>C	ENSP00000337081:p.Glu892Gly		49523493	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	0.108	-1.142642	0.01728	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.52057	0.68;0.68;0.68	4.74	2.63	0.31362	.	0.000000	0.32655	N	0.005812	T	0.28167	0.0695	N	0.26162	0.8	0.09310	N	1	B;B;B	0.14805	0.006;0.011;0.006	B;B;B	0.15052	0.005;0.012;0.005	T	0.12708	-1.0537	10	0.25751	T	0.34	-10.4793	4.4537	0.11633	0.0:0.1843:0.1683:0.6475	.	891;909;892	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	G	892;892;886;909;891	ENSP00000337081:E892G;ENSP00000346305:E886G;ENSP00000441990:E909G	ENSP00000253426:E891G	E	-	2	0	ZNF285	49523493	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	-0.098000	0.11024	0.421000	0.25980	0.460000	0.39030	GAA		0.383	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		C	44831653	T	C	44831653	3	2	241	1	0	0	0	0	1	0	0	0	17638	1783	62	4	70	4	ZFP112	19	44831653	Missense_Mutation	SNP	T	TCGA-24-1551-01A-01W-0551-08	30942748	44831653	14297330	27	13542											
FBXO46	23403	broad.mit.edu	37	19	46215218	46215218	+	Silent	SNP	C	C	T			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr19:46215218C>T	ENST00000317683.3	-	2	1669	c.1536G>A	c.(1534-1536)gtG>gtA	p.V512V		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	512	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.V512V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTGTGGCCCGCACGCCAAACG	0.642																																																1	Substitution - coding silent(1)	ovary(1)	19											29	32	31					19																	46215218		2121	4232	6353	50907058	SO:0001819	synonymous_variant	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1536G>A	19.37:g.46215218C>T			50907058		Silent	SNP	ENST00000317683.3	37	CCDS46116.1																																																																																				0.642	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		T	46215218	C	T	46215218	2	4	241	1	0	0	0	0	0	0	0	1	5755	697	25	2		2	FBXO46	19	46215218	Silent	SNP	C	TCGA-24-1551-01A-01W-0551-08	1383565	46215218	12913765	28	13543											
CYTH2	9266	broad.mit.edu	37	19	48975660	48975660	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr19:48975660G>T	ENST00000595676.1	+	4	415	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	CTC-273B12.5_ENST00000600650.1_RNA|CYTH2_ENST00000427476.1_Missense_Mutation_p.G105W|CYTH2_ENST00000452733.2_Missense_Mutation_p.G105W|CTC-273B12.5_ENST00000593476.1_RNA														p.G105W(1)									CAAGGGCGAGGGGCTGAACAA	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											58	53	55					19																	48975660		2203	4300	6503	53667472	SO:0001583	missense	9266																														ENST00000595676.1:c.265G>T	19.37:g.48975660G>T	ENSP00000470383:p.Gly89Trp		53667472		Missense_Mutation	SNP	ENST00000595676.1	37		.	.	.	.	.	.	.	.	.	.	g	20.3	3.966889	0.74131	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.37058	1.22;1.22;1.22	4.51	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	H	0.97962	4.115	0.58432	D	0.999993	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.988	T	0.79271	-0.1872	10	0.87932	D	0	.	10.6793	0.45804	0.0964:0.0:0.9035:0.0	.	105;105	B4DS60;Q99418-2	.;.	W	105;105;127	ENSP00000408236:G105W;ENSP00000391648:G105W;ENSP00000314566:G127W	ENSP00000314566:G127W	G	+	1	0	CYTH2	53667472	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.802000	0.99131	1.034000	0.39945	0.306000	0.20318	GGG		0.632	CTC-273B12.7-001	PUTATIVE	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000466132.1			T	48975660	G	T	48975660	3	4	241	1	0	0	0	0	1	0	0	0	4204	1232	43	3	327	3	CYTH2	19	48975660	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08	2760442	48975660	10153323	29	13544											
LDOC1L	84247	broad.mit.edu	37	22	44893392	44893392	+	Silent	SNP	T	T	C			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chr22:44893392T>C	ENST00000341255.3	-	2	554	c.45A>G	c.(43-45)gcA>gcG	p.A15A		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	15								p.A15A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TCGGAGACGCTGCCAAGGCTG	0.647																																																1	Substitution - coding silent(1)	ovary(1)	22											49	36	41					22																	44893392		2202	4300	6502	43272056	SO:0001819	synonymous_variant	84247			CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.45A>G	22.37:g.44893392T>C			43272056	Q6ZTR1	Silent	SNP	ENST00000341255.3	37	CCDS33662.1																																																																																				0.647	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		C	44893392	T	C	44893392	2	2	241	1	0	0	0	0	0	0	0	1	8710	1567	55	4		4	LDOC1L	22	44893392	Silent	SNP	T	TCGA-24-1551-01A-01W-0551-08		44893392	6411174	30	13545											
FAM120C	54954	broad.mit.edu	37	X	54106713	54106713	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chrX:54106713T>A	ENST00000375180.2	-	15	3044	c.2988A>T	c.(2986-2988)aaA>aaT	p.K996N	FAM120C_ENST00000328235.4_Missense_Mutation_p.K859M	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	996							poly(A) RNA binding (GO:0044822)	p.K996N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAGTCTGTTCTTTTCCATGCC	0.368																																																1	Substitution - Missense(1)	ovary(1)	X											163	137	146					X																	54106713		2203	4300	6503	54123438	SO:0001583	missense	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2988A>T	X.37:g.54106713T>A	ENSP00000364324:p.Lys996Asn		54123438	B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.13|14.13	2.443982|2.443982	0.43429|0.43429	.|.	.|.	ENSG00000184083|ENSG00000184083	ENST00000328235|ENST00000375180	T|T	0.34667|0.23552	1.35|1.9	4.89|4.89	3.72|3.72	0.42706|0.42706	.|.	0.503857|0.503857	0.20488|0.20488	N|N	0.091343|0.091343	T|T	0.13628|0.13628	0.0330|0.0330	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|P	0.49447|0.43885	0.924|0.82	P|B	0.53313|0.38500	0.723|0.275	T|T	0.03240|0.03240	-1.1057|-1.1057	10|10	0.56958|0.59425	D|D	0.05|0.04	-5.3281|-5.3281	7.4002|7.4002	0.26960|0.26960	0.0:0.1063:0.0:0.8937|0.0:0.1063:0.0:0.8937	.|.	859|996	F8W881|Q9NX05	.|F120C_HUMAN	M|N	859|996	ENSP00000329896:K859M|ENSP00000364324:K996N	ENSP00000329896:K859M|ENSP00000364324:K996N	K|K	-|-	2|3	0|2	FAM120C|FAM120C	54123438|54123438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.667000|0.667000	0.39255|0.39255	1.309000|1.309000	0.33539|0.33539	1.733000|1.733000	0.51620|0.51620	0.412000|0.412000	0.27726|0.27726	AAG|AAA		0.368	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		A	54106713	T	A	54106713	3	1	241	1	0	0	0	0	1	0	0	0	5418	1606	56	5	310	5	FAM120C	23	54106713	Missense_Mutation	SNP	T	TCGA-24-1551-01A-01W-0551-08		54106713	101163847	31	13546											
ARMCX2	9823	broad.mit.edu	37	X	100911660	100911660	+	Silent	SNP	G	G	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chrX:100911660G>A	ENST00000328766.5	-	5	1368	c.915C>T	c.(913-915)gaC>gaT	p.D305D	ARMCX2_ENST00000330154.2_Silent_p.D305D|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Silent_p.D305D	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	305						integral component of membrane (GO:0016021)		p.D305D(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCCCCAGTTCGTCTACTTCAA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	X											128	139	135					X																	100911660		2203	4300	6503	100798316	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.915C>T	X.37:g.100911660G>A			100798316	O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	CCDS14490.1																																																																																				0.592	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		A	100911660	G	A	100911660	2	1	241	1	0	0	0	0	0	0	0	1	960	1136	40	1		1	ARMCX2	23	100911660	Silent	SNP	G	TCGA-24-1551-01A-01W-0551-08	46804947	100911660	54358900	32	13547											
L1CAM	3897	broad.mit.edu	37	X	153136544	153136544	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1551-01A-01W-0551-08	TCGA-24-1551-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a80873b-587f-44cf-a4e8-e44b228f5833	fca7489b-3bf5-4682-9d1a-b92b537aad8b	g.chrX:153136544G>A	ENST00000370060.1	-	6	680	c.491C>T	c.(490-492)gCa>gTa	p.A164V	L1CAM_ENST00000370055.1_Missense_Mutation_p.A159V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A166V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A164V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A164V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A166V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A159V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	164	Ig-like C2-type 2.				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.A164V(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)					GAGAGGCTCTGCACTTGGGGG	0.642																																																1	Substitution - Missense(1)	ovary(1)	X											47	43	44					X																	153136544		2203	4300	6503	152789738	SO:0001583	missense	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.491C>T	X.37:g.153136544G>A	ENSP00000359077:p.Ala164Val		152789738	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661204	0.14645	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000540065;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.12	4.26	0.50523	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.64438	0.2598	L	0.41710	1.295	0.21933	N	0.999461	B;B;B	0.18013	0.02;0.02;0.025	B;B;B	0.22753	0.024;0.024;0.041	T	0.50701	-0.8797	10	0.22706	T	0.39	.	11.7574	0.51882	0.0886:0.0:0.9114:0.0	.	159;164;164	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	164;166;164;166;159;34;159;164	ENSP00000359077:A164V;ENSP00000438430:A166V;ENSP00000359074:A164V;ENSP00000439645:A166V;ENSP00000354712:A159V;ENSP00000359072:A159V;ENSP00000355380:A164V	ENSP00000355380:A164V	A	-	2	0	L1CAM	152789738	0.000000	0.05858	0.007000	0.13788	0.380000	0.30137	0.932000	0.28884	1.151000	0.42436	0.436000	0.28706	GCA		0.642	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153136544	G	A	153136544	3	1	241	1	0	0	0	0	1	0	0	0	8588	1319	46	2	3378	2	L1CAM	23	153136544	Missense_Mutation	SNP	G	TCGA-24-1551-01A-01W-0551-08	52224884	153136544	2134016	33	13548											
GABRD	2563	broad.mit.edu	37	1	1961652	1961652	+	Silent	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr1:1961652C>T	ENST00000378585.4	+	9	1373	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	430					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y430Y(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGACATTTACGCCCGCGCTG	0.647																																																1	Substitution - coding silent(1)	ovary(1)	1											65	64	64					1																	1961652		2203	4296	6499	1951512	SO:0001819	synonymous_variant	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1290C>T	1.37:g.1961652C>T			1951512	Q8N4N9	Silent	SNP	ENST00000378585.4	37	CCDS36.1																																																																																				0.647	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		T	1961652	C	T	1961652	2	4	242	1	0	0	0	0	0	0	0	1	6169	547	19	1		1	GABRD	1	1961652	Silent	SNP	C	TCGA-24-1552-01A-01W-0551-08		1961652	247288969	1	13549											
PTPRF	5792	broad.mit.edu	37	1	44044559	44044559	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr1:44044559G>A	ENST00000359947.4	+	7	987	c.647G>A	c.(646-648)cGt>cAt	p.R216H	PTPRF_ENST00000372413.3_Missense_Mutation_p.R216H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R216H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R216H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	216	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R206H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAGGCACACGTTACTCAGCC	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											181	121	141					1																	44044559		2203	4300	6503	43817146	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.647G>A	1.37:g.44044559G>A	ENSP00000353030:p.Arg216His		43817146	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	35	5.531671	0.96446	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.75	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33382	N	0.004967	T	0.75474	0.3854	L	0.35793	1.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.995;0.997;0.981	T	0.75402	-0.3330	10	0.44086	T	0.13	.	18.6448	0.91407	0.0:0.0:1.0:0.0	.	216;216;216;222	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	H	216	ENSP00000353030:R216H;ENSP00000398822:R216H;ENSP00000361491:R216H;ENSP00000361490:R216H;ENSP00000413306:R216H	ENSP00000353030:R216H	R	+	2	0	PTPRF	43817146	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.751000	0.98889	2.583000	0.87209	0.591000	0.81541	CGT		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			A	44044559	G	A	44044559	3	1	242	1	0	0	0	0	1	0	0	0	12804	1145	40	1	665	1	PTPRF	1	44044559	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08	42082907	44044559	205206062	2	13550											
GBA	2629	broad.mit.edu	37	1	155207162	155207162	+	Silent	SNP	T	T	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr1:155207162T>C	ENST00000327247.5	-	8	1201	c.969A>G	c.(967-969)caA>caG	p.Q323Q	GBA_ENST00000368373.3_Silent_p.Q323Q|GBA_ENST00000428024.3_Silent_p.Q236Q|GBA_ENST00000427500.3_Silent_p.Q274Q|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000536770.1_Silent_p.Q210Q|GBA_ENST00000493842.1_5'Flank	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	323					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.Q323Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	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)		Velaglucerase alfa(DB06720)	GCAGCAAGCGTTGGTCATCCA	0.557									Gaucher disease type I																																							1	Substitution - coding silent(1)	ovary(1)	1											89	77	81					1																	155207162		2203	4298	6501	153473786	SO:0001819	synonymous_variant	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.969A>G	1.37:g.155207162T>C			153473786	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	CCDS1102.1																																																																																				0.557	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		C	155207162	T	C	155207162	2	2	242	1	0	0	0	0	0	0	0	1	6266	1722	60	4		4	GBA	1	155207162	Silent	SNP	T	TCGA-24-1552-01A-01W-0551-08	111162603	155207162	94043459	3	13551											
ATP6V1A	523	broad.mit.edu	37	3	113497630	113497630	+	Silent	SNP	C	C	G			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr3:113497630C>G	ENST00000273398.3	+	2	138	c.30C>G	c.(28-30)ctC>ctG	p.L10L	ATP6V1A_ENST00000538620.1_5'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	10					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.L10L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CCAAAATACTCGATGAAGATA	0.299																																																1	Substitution - coding silent(1)	ovary(1)	3											68	69	68					3																	113497630		2203	4298	6501	114980320	SO:0001819	synonymous_variant	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.30C>G	3.37:g.113497630C>G			114980320	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	ENST00000273398.3	37	CCDS2976.1																																																																																				0.299	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		G	113497630	C	G	113497630	2	3	242	1	0	0	0	0	0	0	0	1	1177	871	31	3		3	ATP6V1A	3	113497630	Silent	SNP	C	TCGA-24-1552-01A-01W-0551-08		113497630	84524800	4	13552											
USO1	8615	broad.mit.edu	37	4	76692047	76692047	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr4:76692047G>T	ENST00000538159.1	+	6	475	c.475G>T	c.(475-477)Gtg>Ttg	p.V159L	USO1_ENST00000514213.2_Missense_Mutation_p.V142L			O60763	USO1_HUMAN	USO1 vesicle transport factor	157	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.V85L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGGCCTCAGGTGCAACAAAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	4											150	145	147					4																	76692047		1829	4080	5909	76911071	SO:0001583	missense	8615			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.475G>T	4.37:g.76692047G>T	ENSP00000440586:p.Val159Leu		76911071	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37		.	.	.	.	.	.	.	.	.	.	G	18.31	3.595602	0.66219	.	.	ENSG00000138768	ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.62105	0.05;0.05	5.77	5.77	0.91146	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	L	0.28776	0.89	0.80722	D	1	B	0.13145	0.007	B	0.14023	0.01	T	0.46414	-0.9193	10	0.14252	T	0.57	.	19.9859	0.97351	0.0:0.0:1.0:0.0	.	157	O60763	USO1_HUMAN	L	159;142;85	ENSP00000440586:V159L;ENSP00000444850:V142L	ENSP00000264904:V85L	V	+	1	0	USO1	76911071	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.080000	0.57620	2.729000	0.93468	0.655000	0.94253	GTG		0.353	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		T	76692047	G	T	76692047	3	4	242	1	0	0	0	0	1	0	0	0	17039	1261	44	3	332	3	USO1	4	76692047	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08		76692047	114462229	5	13553											
PCDHGB5	56102	broad.mit.edu	37	5	140778299	140778299	+	Intron	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr5:140778299G>A	ENST00000576222.1	+	1	2546				PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTAGACCGGGAACAACAG	0.483																																																0			5											102	104	103					5																	140778299		1914	4134	6048	140758483	SO:0001627	intron_variant	56101			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25923G>A	5.37:g.140778299G>A			140758483	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.483	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140778299	G	A	140778299	1	1	242	0	1	0	0	0	0	0	0	0	11566	1116	39	1		1	PCDHGB5	5	140778299	Intron	SNP	G	TCGA-24-1552-01A-01W-0551-08		140778299	40136961	6	13554											
HIST1H2AE	3012	broad.mit.edu	37	6	26217314	26217314	+	Missense_Mutation	SNP	G	G	A	rs372540247		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr6:26217314G>A	ENST00000303910.2	+	1	150	c.112G>A	c.(112-114)Ggc>Agc	p.G38S	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	38				GN -> AH (in Ref. 1; CAA24951). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G38S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				CCTCCGCAAAGGCAACTACTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	6						G	SER/GLY	0,4406		0,0,2203	55	50	52		112	4	1	6		52	1,8599		0,1,4299	no	missense	HIST1H2AE	NM_021052.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	38/131	26217314	1,13005	2203	4300	6503	26325293	SO:0001583	missense	3012			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.112G>A	6.37:g.26217314G>A	ENSP00000303373:p.Gly38Ser		26325293	P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	14.70	2.612935	0.46631	0.0	1.16E-4	ENSG00000168274	ENST00000303910	T	0.69306	-0.39	3.98	3.98	0.46160	.	0.000000	0.34676	U	0.003777	T	0.78710	0.4326	M	0.86740	2.835	0.53688	D	0.999972	.	.	.	.	.	.	D	0.83377	0.0010	8	0.72032	D	0.01	.	15.5689	0.76317	0.0:0.0:1.0:0.0	.	.	.	.	S	38	ENSP00000303373:G38S	ENSP00000303373:G38S	G	+	1	0	HIST1H2AE	26325293	1.000000	0.71417	0.958000	0.39756	0.004000	0.04260	9.392000	0.97252	2.215000	0.71742	0.585000	0.79938	GGC		0.607	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		A	26217314	G	A	26217314	3	1	242	1	0	0	0	0	1	0	0	0	7132	1000	35	2	114	2	HIST1H2AE	6	26217314	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08		26217314	144897753	7	13555											
C6orf27	80737	broad.mit.edu	37	6	31736894	31736894	+	Nonsense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr6:31736894G>C	ENST00000375688.4	-	10	1604	c.1404C>G	c.(1402-1404)taC>taG	p.Y468*	VWA7_ENST00000447450.1_Nonsense_Mutation_p.Y468*|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Nonsense_Mutation_p.Y468*			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	468	VWFA.					extracellular region (GO:0005576)		p.Y468*(1)									CCACTGCTTTGTATGGCTCAA	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	6											141	98	113					6																	31736894		1511	2709	4220	31844873	SO:0001587	stop_gained	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1404C>G	6.37:g.31736894G>C	ENSP00000364840:p.Tyr468*		31844873	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Nonsense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	36	5.658533	0.96734	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	.	.	.	5.65	-3.91	0.04168	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.794	12.8778	0.57999	0.4821:0.0:0.5179:0.0	.	.	.	.	X	468	.	ENSP00000364838:Y468X	Y	-	3	2	C6orf27	31844873	0.002000	0.14202	0.596000	0.28811	0.503000	0.33858	-0.372000	0.07504	-0.423000	0.07394	-0.379000	0.06801	TAC		0.552	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		C	31736894	G	C	31736894	4	2	242	1	0	0	0	0	0	1	0	0	2362	1372	48	3	1302	3	C6orf27	6	31736894	Nonsense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08	5519580	31736894	139378173	8	13556											
BRD2	6046	broad.mit.edu	37	6	32944598	32944599	+	Frame_Shift_Ins	INS	-	-	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	-	-	T	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr6:32944598_32944599insT	ENST00000374825.4	+	7	2786_2787	c.1085_1086insT	c.(1084-1089)tctaagfs	p.K363fs	BRD2_ENST00000395289.2_Frame_Shift_Ins_p.K363fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.K363fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.K363fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.K243fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.K316fs	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	363					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.K363fs*1(1)		central_nervous_system(3)|stomach(2)	5						GAGTTACTCTCTAAGAAGCATG	0.446																																																1	Insertion - Frameshift(1)	ovary(1)	6																																								33052577	SO:0001589	frameshift_variant	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1086dupT	6.37:g.32944599_32944599dupT	ENSP00000363958:p.Lys363fs		33052576	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Frame_Shift_Ins	INS	ENST00000374825.4	37	CCDS4762.1																																																																																				0.446	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			T	32944599	-	T	32944598	7	5	242	1	0	1	1	0	0	0	0	0	1502	913	32	0	1107	0	BRD2	6	32944598	Frame_Shift_Ins	INS	-	TCGA-24-1552-01A-01W-0551-08	1207704	32944598	138170469	9	13557											
RBAK	57786	broad.mit.edu	37	7	5097322	5097322	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr7:5097322T>G	ENST00000353796.3	+	5	474	c.150T>G	c.(148-150)gaT>gaG	p.D50E	RBAK-RBAKDN_ENST00000407184.1_Missense_Mutation_p.D50E|RBAK-RBAKDN_ENST00000396904.2_Missense_Mutation_p.D50E|RBAK_ENST00000396912.1_Missense_Mutation_p.D50E	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D50E(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CAGGATATGATACCACCAAGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	7											131	114	120					7																	5097322		2203	4300	6503	5063848	SO:0001583	missense	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.150T>G	7.37:g.5097322T>G	ENSP00000275423:p.Asp50Glu		5063848	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071970	0.36566	.	.	ENSG00000146587	ENST00000407184;ENST00000353796;ENST00000396904;ENST00000396912	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	3.3	-2.64	0.06114	Krueppel-associated box (3);	0.141960	0.32459	N	0.006063	T	0.17450	0.0419	N	0.00670	-1.27	0.26781	N	0.969606	D	0.58970	0.984	D	0.67548	0.952	T	0.42068	-0.9473	9	0.02654	T	1	.	4.5353	0.12026	0.1452:0.4355:0.0:0.4194	.	50	Q9NYW8	RBAK_HUMAN	E	50	ENSP00000385560:D50E;ENSP00000275423:D50E;ENSP00000380112:D50E;ENSP00000380120:D50E	ENSP00000275423:D50E	D	+	3	2	RBAK	5063848	0.002000	0.14202	0.001000	0.08648	0.075000	0.17131	-0.339000	0.07832	-0.537000	0.06290	0.379000	0.24179	GAT		0.453	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		G	5097322	T	G	5097322	3	3	242	1	0	0	0	0	1	0	0	0	13103	1403	49	5	160	5	RBAK	7	5097322	Missense_Mutation	SNP	T	TCGA-24-1552-01A-01W-0551-08		5097322	154041341	10	13558											
DLX6	1750	broad.mit.edu	37	7	96639147	96639147	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr7:96639147A>T	ENST00000518156.2	+	3	1100	c.670A>T	c.(670-672)Aaa>Taa	p.K224*	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000555308.1_Nonsense_Mutation_p.K96*|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000007660.5_Nonsense_Mutation_p.K196*|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	106					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K196*(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TAAGTTTAAGAAACTGCTGAA	0.537																																																1	Substitution - Nonsense(1)	ovary(1)	7											86	86	86					7																	96639147		2046	4208	6254	96477083	SO:0001587	stop_gained	1750				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.670A>T	7.37:g.96639147A>T	ENSP00000428480:p.Lys224*		96477083	A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Nonsense_Mutation	SNP	ENST00000518156.2	37	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	A	35	5.586288	0.96578	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0013	16.0796	0.80995	1.0:0.0:0.0:0.0	.	.	.	.	X	224;196;96	.	ENSP00000007660:K196X	K	+	1	0	DLX6	96477083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.206000	0.71126	0.533000	0.62120	AAA		0.537	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		T	96639147	A	T	96639147	4	4	242	1	0	0	0	0	0	1	0	0	4575	247	9	5	680	5	DLX6	7	96639147	Nonsense_Mutation	SNP	A	TCGA-24-1552-01A-01W-0551-08	91541825	96639147	62499516	11	13559											
PPP2R2A	5520	broad.mit.edu	37	8	26227853	26227853	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:26227853C>T	ENST00000380737.3	+	10	1597	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.A433V	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	423					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.A423V(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CTTCACACAGCCTGGCACCCC	0.413																																																1	Substitution - Missense(1)	ovary(1)	8											86	86	86					8																	26227853		2203	4300	6503	26283770	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1268C>T	8.37:g.26227853C>T	ENSP00000370113:p.Ala423Val		26283770	B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297700	0.60086	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.34859	1.34;1.34	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.64283	0.2584	M	0.81682	2.555	0.80722	D	1	P;P;D	0.76494	0.469;0.76;0.999	B;B;D	0.72075	0.293;0.181;0.976	T	0.67221	-0.5725	10	0.72032	D	0.01	-28.052	19.3941	0.94598	0.0:1.0:0.0:0.0	.	433;423;424	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	V	423;433	ENSP00000370113:A423V;ENSP00000325074:A433V	ENSP00000325074:A433V	A	+	2	0	PPP2R2A	26283770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.465000	0.66725	2.885000	0.99019	0.655000	0.94253	GCC		0.413	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		T	26227853	C	T	26227853	3	4	242	1	0	0	0	0	1	0	0	0	12387	739	26	2	1347	2	PPP2R2A	8	26227853	Missense_Mutation	SNP	C	TCGA-24-1552-01A-01W-0551-08		26227853	120136169	12	13560											
FNTA	2339	broad.mit.edu	37	8	42911646	42911646	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:42911646G>T	ENST00000302279.3	+	1	351	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	FNTA_ENST00000342116.4_Missense_Mutation_p.D53Y|FNTA_ENST00000529687.1_5'Flank|RP11-598P20.5_ENST00000534420.1_Intron|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	53					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.D53Y(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCCCATGGACGACGGGTTTGT	0.731																																																1	Substitution - Missense(1)	ovary(1)	8											14	14	14					8																	42911646		2187	4274	6461	43030803	SO:0001583	missense	2339			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.157G>T	8.37:g.42911646G>T	ENSP00000303423:p.Asp53Tyr		43030803	A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221859	0.39300	.	.	ENSG00000168522	ENST00000302279;ENST00000342116;ENST00000531266	.	.	.	4.77	2.7	0.31948	.	0.220901	0.41097	D	0.000947	T	0.23572	0.0570	N	0.08118	0	0.33481	D	0.587501	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.13229	-1.0517	9	0.44086	T	0.13	-16.7304	6.0999	0.20041	0.0:0.1718:0.5513:0.2769	.	53;53	P49354-2;P49354	.;FNTA_HUMAN	Y	53;53;48	.	ENSP00000303423:D53Y	D	+	1	0	FNTA	43030803	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.306000	0.33505	0.966000	0.38159	0.460000	0.39030	GAC		0.731	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		T	42911646	G	T	42911646	3	4	242	1	0	0	0	0	1	0	0	0	5977	1058	37	3	159	3	FNTA	8	42911646	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08	16683793	42911646	103452376	13	13561											
ST18	9705	broad.mit.edu	37	8	53077785	53077785	+	Splice_Site	SNP	A	A	G			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:53077785A>G	ENST00000276480.7	-	12	1888	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	402					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I402T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATGGCAAGAACTAAGCACAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	8											161	153	156					8																	53077785		2203	4300	6503	53240338	SO:0001630	splice_region_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1205-1T>C	8.37:g.53077785A>G			53240338	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.947711	0.92593	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.55588	0.51;0.57	5.92	5.92	0.95590	.	0.050099	0.85682	D	0.000000	T	0.71728	0.3374	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.69307	0.963;0.889	T	0.72597	-0.4245	10	0.45353	T	0.12	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	402;402	E5RHS3;O60284	.;ST18_HUMAN	T	402	ENSP00000276480:I402T;ENSP00000428521:I402T	ENSP00000276480:I402T	I	-	2	0	ST18	53240338	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.177000	0.94849	2.255000	0.74692	0.533000	0.62120	ATT		0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Missense_Mutation	G	53077785	A	G	53077785	5	3	242	1	0	0	0	0	0	0	1	0	15214	57	2	4	1998	4	ST18	8	53077785	Splice_Site	SNP	A	TCGA-24-1552-01A-01W-0551-08	10166139	53077785	93286237	14	13562											
DPY19L4	286148	broad.mit.edu	37	8	95746894	95746894	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:95746894G>A	ENST00000414645.2	+	3	263	c.164G>A	c.(163-165)gGc>gAc	p.G55D		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	55						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.G55D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTTTCATTGGCTGTCTTGCA	0.338																																																1	Substitution - Missense(1)	ovary(1)	8											96	89	92					8																	95746894		2203	4300	6503	95816070	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.164G>A	8.37:g.95746894G>A	ENSP00000389630:p.Gly55Asp		95816070	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664308	0.88251	.	.	ENSG00000156162	ENST00000414645;ENST00000519176	T;T	0.68903	-0.36;0.63	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77459	-0.2580	10	0.66056	D	0.02	-5.971	18.7653	0.91869	0.0:0.0:1.0:0.0	.	55	Q7Z388	D19L4_HUMAN	D	55;26	ENSP00000389630:G55D;ENSP00000430417:G26D	ENSP00000389630:G55D	G	+	2	0	DPY19L4	95816070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.336000	0.90033	2.480000	0.83734	0.591000	0.81541	GGC		0.338	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		A	95746894	G	A	95746894	3	1	242	1	0	0	0	0	1	0	0	0	4743	1203	42	2	174	2	DPY19L4	8	95746894	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08	42669109	95746894	50617128	15	13563											
COL22A1	169044	broad.mit.edu	37	8	139618624	139618624	+	Splice_Site	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr8:139618624C>T	ENST00000303045.6	-	58	4550	c.4104G>A	c.(4102-4104)ccG>ccA	p.P1368P	COL22A1_ENST00000435777.1_Splice_Site_p.P1348P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1368	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1368P(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCTGCTTACCGGAGGCCCAC	0.557										HNSCC(7;0.00092)																																						1	Substitution - coding silent(1)	ovary(1)	8											40	44	43					8																	139618624		2203	4300	6503	139687806	SO:0001630	splice_region_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4104+1G>A	8.37:g.139618624C>T			139687806	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.557	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Silent	T	139618624	C	T	139618624	5	4	242	1	0	0	0	0	0	0	1	0	3681	666	23	1	808	1	COL22A1	8	139618624	Splice_Site	SNP	C	TCGA-24-1552-01A-01W-0551-08	43871730	139618624	6745398	16	13564											
ELAVL2	1993	broad.mit.edu	37	9	23692598	23692598	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr9:23692598A>T	ENST00000397312.2	-	7	1311	c.1037T>A	c.(1036-1038)gTa>gAa	p.V346E	ELAVL2_ENST00000544538.1_Missense_Mutation_p.V346E|ELAVL2_ENST00000223951.6_Missense_Mutation_p.V333E|ELAVL2_ENST00000380110.4_Missense_Mutation_p.V376E|ELAVL2_ENST00000380117.1_Missense_Mutation_p.V346E	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	346	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V346E(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GACCTGCAGTACTCTGTCTCC	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											70	64	66					9																	23692598		2203	4300	6503	23682598	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.1037T>A	9.37:g.23692598A>T	ENSP00000380479:p.Val346Glu		23682598	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.978621	0.53720	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	N	0.11427	0.14	0.80722	D	1	P;P	0.49358	0.923;0.908	P;P	0.59056	0.826;0.851	T	0.13229	-1.0517	10	0.72032	D	0.01	.	16.4023	0.83644	1.0:0.0:0.0:0.0	.	346;333	Q12926;Q12926-2	ELAV2_HUMAN;.	E	333;346;346;333;346;374	ENSP00000223951:V333E;ENSP00000380479:V346E;ENSP00000440998:V346E;ENSP00000369460:V346E	ENSP00000223951:V333E	V	-	2	0	ELAVL2	23682598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.866000	0.92307	2.274000	0.75844	0.528000	0.53228	GTA		0.408	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		T	23692598	A	T	23692598	3	4	242	1	0	0	0	0	1	0	0	0	5050	391	14	5	46	5	ELAVL2	9	23692598	Missense_Mutation	SNP	A	TCGA-24-1552-01A-01W-0551-08		23692598	117520833	17	13565											
ZNF462	58499	broad.mit.edu	37	9	109691199	109691199	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr9:109691199G>C	ENST00000277225.5	+	3	5295	c.5006G>C	c.(5005-5007)tGc>tCc	p.C1669S	ZNF462_ENST00000457913.1_Missense_Mutation_p.C1669S|ZNF462_ENST00000441147.2_Missense_Mutation_p.C514S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1669					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C1669S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGTACTTCTGCTCCACGAGG	0.577																																																1	Substitution - Missense(1)	ovary(1)	9											133	120	125					9																	109691199		2203	4300	6503	108731020	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5006G>C	9.37:g.109691199G>C	ENSP00000277225:p.Cys1669Ser		108731020	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859718	0.51376	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06849	3.25;3.67;3.74;3.73	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.87578	0.781;0.998	T	0.01232	-1.1411	10	0.45353	T	0.12	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1669;1669	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	S	1669;1669;552;514	ENSP00000277225:C1669S;ENSP00000414570:C1669S;ENSP00000363818:C552S;ENSP00000397306:C514S	ENSP00000277225:C1669S	C	+	2	0	ZNF462	108731020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.598000	0.82745	2.861000	0.98227	0.655000	0.94253	TGC		0.577	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		C	109691199	G	C	109691199	3	2	242	1	0	0	0	0	1	0	0	0	17926	1319	46	3	5012	3	ZNF462	9	109691199	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08	85998601	109691199	31522232	18	13566											
RET	5979	broad.mit.edu	37	10	43619215	43619215	+	Silent	SNP	C	C	T	rs373693875		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr10:43619215C>T	ENST00000355710.3	+	17	3130	c.2898C>T	c.(2896-2898)acC>acT	p.T966T	RET_ENST00000340058.5_Silent_p.T966T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	966	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T966T(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTCTGAAGACCGGCCACCGGA	0.602		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	1	Substitution - coding silent(1)	ovary(1)	10						C	,	1,4405	2.1+/-5.4	0,1,2202	77	80	79		2898,2898	-10.3	0.3	10		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	966/1073,966/1115	43619215	1,13005	2203	4300	6503	42939221	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2898C>T	10.37:g.43619215C>T			42939221	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																				0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43619215	C	T	43619215	2	4	242	1	0	0	0	0	0	0	0	1	13238	639	23	1		1	RET	10	43619215	Silent	SNP	C	TCGA-24-1552-01A-01W-0551-08		43619215	91915532	19	13567											
OR52B6	340980	broad.mit.edu	37	11	5603050	5603050	+	Missense_Mutation	SNP	G	G	T	rs377549706		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr11:5603050G>T	ENST00000345043.2	+	1	944	c.944G>T	c.(943-945)aGg>aTg	p.R315M	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R315M(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGGAGTGAGGACTAAGCCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	11											196	175	182					11																	5603050		1919	4130	6049	5559626	SO:0001583	missense	340980			AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.944G>T	11.37:g.5603050G>T	ENSP00000341581:p.Arg315Met		5559626	Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619730	0.28801	.	.	ENSG00000187747	ENST00000345043	T	0.38240	1.15	4.8	1.53	0.23141	.	0.000000	0.41194	U	0.000927	T	0.53110	0.1776	M	0.80183	2.485	0.25690	N	0.985708	D	0.76494	0.999	D	0.64687	0.928	T	0.44742	-0.9308	10	0.87932	D	0	.	6.571	0.22539	0.4654:0.0:0.5346:0.0	.	315	Q8NGF0	O52B6_HUMAN	M	315	ENSP00000341581:R315M	ENSP00000341581:R315M	R	+	2	0	OR52B6	5559626	0.000000	0.05858	0.624000	0.29186	0.167000	0.22549	-0.009000	0.12765	0.126000	0.18424	0.591000	0.81541	AGG		0.438	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		T	5603050	G	T	5603050	3	4	242	1	0	0	0	0	1	0	0	0	11113	1000	35	3	946	3	OR52B6	11	5603050	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08		5603050	129403466	20	13568											
SYT7	9066	broad.mit.edu	37	11	61300523	61300523	+	Missense_Mutation	SNP	G	G	A	rs529590239		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr11:61300523G>A	ENST00000263846.4	-	4	616	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	SYT7_ENST00000540677.1_Missense_Mutation_p.R172W|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.R141W|SYT7_ENST00000535826.1_Missense_Mutation_p.R216W|SYT7_ENST00000542670.1_Missense_Mutation_p.R305W|SYT7_ENST00000539008.1_Missense_Mutation_p.R380W	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	97					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.R97W(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCTCGGTCCGGCGGTCGGAC	0.632													G|||	1	0.000199681	0	0	5008	,	,		16502	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11											100	92	95					11																	61300523		2202	4299	6501	61057099	SO:0001583	missense	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.289C>T	11.37:g.61300523G>A	ENSP00000263846:p.Arg97Trp		61057099	F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750571	0.69533	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.57752	0.38;0.41;0.56;0.46;0.42;0.43;1.8	4.47	2.41	0.29592	.	0.688216	0.13727	N	0.366950	T	0.52191	0.1719	N	0.14661	0.345	0.46458	D	0.999053	D;D	0.76494	0.999;0.975	D;B	0.63488	0.915;0.249	T	0.50154	-0.8861	10	0.54805	T	0.06	.	11.7644	0.51922	0.0:0.0:0.3322:0.6678	.	172;97	F5GZU9;O43581	.;SYT7_HUMAN	W	97;172;380;141;305;216;97	ENSP00000263846:R97W;ENSP00000444201:R172W;ENSP00000439694:R380W;ENSP00000444568:R141W;ENSP00000444019:R305W;ENSP00000437720:R216W;ENSP00000443576:R97W	ENSP00000263846:R97W	R	-	1	2	SYT7	61057099	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	0.753000	0.26376	0.312000	0.23038	0.462000	0.41574	CGG		0.632	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		A	61300523	G	A	61300523	3	1	242	1	0	0	0	0	1	0	0	0	15479	1115	39	1	946	1	SYT7	11	61300523	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08	55697473	61300523	73705993	21	13569											
STX5	6811	broad.mit.edu	37	11	62595064	62595064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr11:62595064G>A	ENST00000294179.3	-	3	418	c.265C>T	c.(265-267)Cga>Tga	p.R89*	STX5_ENST00000377897.4_Nonsense_Mutation_p.R89*|STX5_ENST00000394690.1_Nonsense_Mutation_p.R35*|STX5_ENST00000541317.1_5'UTR	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	89					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.R89*(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CTGCGTTGTCGGACAGCACGC	0.483																																																1	Substitution - Nonsense(1)	ovary(1)	11											133	120	124					11																	62595064		2201	4299	6500	62351640	SO:0001587	stop_gained	6811			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"syntaxin 5A"	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.265C>T	11.37:g.62595064G>A	ENSP00000294179:p.Arg89*		62351640	B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Nonsense_Mutation	SNP	ENST00000294179.3	37	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841403	0.71488	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690	.	.	.	5.37	4.46	0.54185	.	0.168259	0.44902	D	0.000401	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-4.9805	6.9639	0.24613	0.088:0.0:0.7402:0.1717	.	.	.	.	X	89;89;35	.	ENSP00000294179:R89X	R	-	1	2	STX5	62351640	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.923000	0.40055	1.278000	0.44430	0.655000	0.94253	CGA		0.483	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		A	62595064	G	A	62595064	4	1	242	1	0	0	0	0	0	1	0	0	15350	1124	39	1	838	1	STX5	11	62595064	Nonsense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08	1294541	62595064	72411452	22	13570											
SHANK2	22941	broad.mit.edu	37	11	70348920	70348920	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr11:70348920G>C	ENST00000423696.2	-	8	1077	c.1041C>G	c.(1039-1041)gaC>gaG	p.D347E	SHANK2_ENST00000409161.1_Missense_Mutation_p.D137E|SHANK2_ENST00000449833.2_Missense_Mutation_p.D138E|SHANK2_ENST00000409530.1_Missense_Mutation_p.D137E|SHANK2_ENST00000338508.4_Missense_Mutation_p.D727E|SHANK2_ENST00000357171.3_Missense_Mutation_p.D138E|SHANK2_ENST00000449116.2_Missense_Mutation_p.D138E			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	347					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.D138E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGCGGTGTCGTCGGGGTCCA	0.657																																																1	Substitution - Missense(1)	ovary(1)	11											117	91	100					11																	70348920		2200	4294	6494	70026568	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1041C>G	11.37:g.70348920G>C	ENSP00000394536:p.Asp347Glu		70026568	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.053|6.053|6.053	0.378151|0.378151|0.378151	0.11466|0.11466|0.11466	.|.|.	.|.|.	ENSG00000162105|ENSG00000162105|ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171|ENST00000412252|ENST00000426687	T;T;T;T;T;T;T;T;T|.|.	0.38887|.|.	2.59;2.59;3.4;1.29;2.71;2.71;1.11;1.11;1.11|.|.	4.46|4.46|4.46	-4.29|-4.29|-4.29	0.03721|0.03721|0.03721	.|.|.	0.796156|.|.	0.11248|.|.	N|.|.	0.583928|.|.	T|T|T	0.45955|0.45955|0.45955	0.1368|0.1368|0.1368	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.45914|0.45914|0.45914	D|D|D	0.998751|0.998751|0.998751	B;B;D;B|.|.	0.76494|.|.	0.028;0.201;0.999;0.303|.|.	B;B;D;B|.|.	0.87578|.|.	0.049;0.146;0.998;0.281|.|.	T|T|T	0.36212|0.36212|0.36212	-0.9757|-0.9757|-0.9757	10|5|5	0.24483|.|.	T|.|.	0.36|.|.	.|.|.	9.4507|9.4507|9.4507	0.38725|0.38725|0.38725	0.7586:0.1233:0.1181:0.0|0.7586:0.1233:0.1181:0.0|0.7586:0.1233:0.1181:0.0	.|.|.	138;347;726;138|.|.	B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4|.|.	.;SHAN2_HUMAN;.;.|.|.	E|G|R	138;137;15;727;347;361;357;137;138;138|137|136	ENSP00000399423:D138E;ENSP00000386491:D137E;ENSP00000402944:D15E;ENSP00000345193:D727E;ENSP00000394536:D347E;ENSP00000294018:D357E;ENSP00000387324:D137E;ENSP00000394939:D138E;ENSP00000349694:D138E|.|.	ENSP00000294018:D357E|.|.	D|R|T	-|-|-	3|1|2	2|2|0	SHANK2|SHANK2|SHANK2	70026568|70026568|70026568	0.051000|0.051000|0.051000	0.20477|0.20477|0.20477	0.390000|0.390000|0.390000	0.26220|0.26220|0.26220	0.481000|0.481000|0.481000	0.33189|0.33189|0.33189	-0.687000|-0.687000|-0.687000	0.05156|0.05156|0.05156	-1.006000|-1.006000|-1.006000	0.03412|0.03412|0.03412	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GAC|CGA|ACG		0.657	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		C	70348920	G	C	70348920	3	2	242	1	0	0	0	0	1	0	0	0	14268	1136	40	3	3407	3	SHANK2	11	70348920	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08	7753856	70348920	64657596	23	13571											
RNFT2	84900	broad.mit.edu	37	12	117271726	117271726	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr12:117271726G>C	ENST00000257575.4	+	8	1245	c.1012G>C	c.(1012-1014)Gtt>Ctt	p.V338L	RNFT2_ENST00000392549.2_Missense_Mutation_p.V338L|RNFT2_ENST00000407967.3_Missense_Mutation_p.V338L|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	338						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V248L(1)		endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GGTCCTGATCGTTCTCTACAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											59	48	52					12																	117271726		2203	4300	6503	115756109	SO:0001583	missense	84900			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1012G>C	12.37:g.117271726G>C	ENSP00000257575:p.Val338Leu		115756109	E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	37	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	4.495	0.091736	0.08632	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549	T;T	0.39997	1.05;1.05	4.85	-5.29	0.02747	.	0.516703	0.20519	N	0.090723	T	0.12689	0.0308	N	0.02181	-0.65	0.32145	N	0.585056	B;B	0.21753	0.004;0.06	B;B	0.17098	0.005;0.017	T	0.34875	-0.9811	10	0.05833	T	0.94	-2.4579	14.3619	0.66779	0.7787:0.0:0.2213:0.0	.	338;338	Q96EX2;E9PAM7	RNFT2_HUMAN;.	L	338	ENSP00000257575:V338L;ENSP00000376332:V338L	ENSP00000257575:V338L	V	+	1	0	RNFT2	115756109	0.996000	0.38824	0.013000	0.15412	0.966000	0.64601	1.093000	0.30939	-1.091000	0.03065	0.650000	0.86243	GTT		0.612	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117271726	G	C	117271726	3	2	242	1	0	0	0	0	1	0	0	0	13505	1145	40	3	1038	3	RNFT2	12	117271726	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08		117271726	16580169	24	13572											
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577																																																1	Substitution - Missense(1)	ovary(1)	14											93	102	99					14																	19553823		1602	3367	4969	18623823	SO:0001583	missense	404785				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.407G>A	14.37:g.19553823G>A	ENSP00000386971:p.Arg136His		18623823	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	5.784	0.328972	0.10956	.	.	ENSG00000222036	ENST00000409832	T	0.53206	0.63	1.47	-2.95	0.05564	.	.	.	.	.	T	0.34687	0.0906	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24657	-1.0154	9	0.39692	T	0.17	.	4.5394	0.12049	0.0:0.4621:0.3049:0.2331	.	136	Q6S5H5	POTEG_HUMAN	H	136	ENSP00000386971:R136H	ENSP00000386971:R136H	R	+	2	0	POTEG	18623823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.250000	0.08830	-0.851000	0.04147	-0.715000	0.03620	CGT		0.577	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19553823	G	A	19553823	3	1	242	1	0	0	0	0	1	0	0	0	12266	1145	40	1	409	1	POTEG	14	19553823	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08		19553823	87795717	25	13573											
C14orf102	55051	broad.mit.edu	37	14	90755479	90755479	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr14:90755479C>T	ENST00000354366.3	-	11	2472	c.2240G>A	c.(2239-2241)tGc>tAc	p.C747Y	NRDE2_ENST00000357904.3_Missense_Mutation_p.C516Y	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	747								p.C747Y(1)									AGTGTGCAGGCACCAAATGAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	14											101	114	110					14																	90755479		2203	4300	6503	89825232	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2240G>A	14.37:g.90755479C>T	ENSP00000346335:p.Cys747Tyr		89825232	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	8.004	0.756072	0.15846	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.46451	0.87;0.87	4.82	2.84	0.33178	.	0.164050	0.56097	D	0.000039	T	0.30978	0.0782	L	0.49126	1.545	0.80722	D	1	B	0.19706	0.038	B	0.18871	0.023	T	0.14309	-1.0477	10	0.02654	T	1	-4.5618	11.7611	0.51903	0.0:0.837:0.0:0.163	.	747	Q9H7Z3	CN102_HUMAN	Y	747;516	ENSP00000346335:C747Y;ENSP00000350579:C516Y	ENSP00000346335:C747Y	C	-	2	0	C14orf102	89825232	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	3.515000	0.53429	1.238000	0.43771	0.650000	0.86243	TGC		0.423	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		T	90755479	C	T	90755479	3	4	242	1	0	0	0	0	1	0	0	0	1735	710	25	2	1270	2	C14orf102	14	90755479	Missense_Mutation	SNP	C	TCGA-24-1552-01A-01W-0551-08	71201656	90755479	16594061	26	13574											
INO80	54617	broad.mit.edu	37	15	41384310	41384310	+	Missense_Mutation	SNP	T	T	C	rs145473172	byFrequency	TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr15:41384310T>C	ENST00000361937.3	-	5	876	c.452A>G	c.(451-453)aAt>aGt	p.N151S	INO80_ENST00000401393.3_Missense_Mutation_p.N151S			Q9ULG1	INO80_HUMAN	INO80 complex subunit	151	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.N151S(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTGCTGAGATTGAGTTCTTC	0.378													T|||	24	0.00479233	0.0151	0.0043	5008	,	,		18882	0		0.001	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(2)	15						T	SER/ASN	43,4363	46.0+/-80.4	0,43,2160	182	168	173		452	0.6	1	15	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	yes	missense	INO80	NM_017553.1	46	0,44,6459	CC,CT,TT		0.0116,0.9759,0.3383	benign	151/1557	41384310	44,12962	2203	4300	6503	39171602	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.452A>G	15.37:g.41384310T>C	ENSP00000355205:p.Asn151Ser		39171602	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	11	0.005036630036630037	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	T	0.019	-1.452823	0.01080	0.009759	1.16E-4	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.89681	-2.55;-2.55	5.37	0.579	0.17397	.	0.582086	0.19443	N	0.114125	T	0.41050	0.1142	N	0.00583	-1.355	0.20703	N	0.999865	B	0.02656	0.0	B	0.01281	0.0	T	0.53493	-0.8431	10	0.09084	T	0.74	.	1.5532	0.02579	0.1122:0.2422:0.2519:0.3938	.	151	Q9ULG1	INO80_HUMAN	S	151	ENSP00000355205:N151S;ENSP00000384686:N151S	ENSP00000355205:N151S	N	-	2	0	INO80	39171602	1.000000	0.71417	0.995000	0.50966	0.336000	0.28762	0.986000	0.29590	-0.056000	0.13221	-0.568000	0.04159	AAT		0.378	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		C	41384310	T	C	41384310	3	2	242	1	0	0	0	0	1	0	0	0	7746	1493	52	4	4346	4	INO80	15	41384310	Missense_Mutation	SNP	T	TCGA-24-1552-01A-01W-0551-08		41384310	61147082	27	13575											
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr17:7577105G>T	ENST00000269305.4	-	8	1022	c.833C>A	c.(832-834)cCt>cAt	p.P278H	TP53_ENST00000359597.4_Missense_Mutation_p.P278H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278H|TP53_ENST00000455263.2_Missense_Mutation_p.P278H|TP53_ENST00000420246.2_Missense_Mutation_p.P278H	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTCTCTCCCAGGACAGGCACA	0.552		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"	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	17	GRCh37	CM961376	TP53	M							72	63	66					17																	7577105		2203	4300	6503	7517830	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.833C>A	17.37:g.7577105G>T	ENSP00000269305:p.Pro278His		7517830	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	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532212	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	278;278;278;278;278;267;146	ENSP00000352610:P278H;ENSP00000269305:P278H;ENSP00000398846:P278H;ENSP00000391127:P278H;ENSP00000391478:P278H;ENSP00000425104:P146H	ENSP00000269305:P278H	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577105	G	T	7577105	3	4	242	1	0	0	0	0	1	0	0	0	16381	1000	35	3	453	3	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08		7577105	73618105	28	13576											
MYO18A	399687	broad.mit.edu	37	17	27437013	27437013	+	Missense_Mutation	SNP	C	C	G	rs372516386		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr17:27437013C>G	ENST00000527372.1	-	19	3374	c.3194G>C	c.(3193-3195)cGa>cCa	p.R1065P	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1065P|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1065P|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1065P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1065	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.R1065P(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTGCTGACTCGGCGGGAGGA	0.662																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											1	Substitution - Missense(1)	ovary(1)	17											21	29	27					17																	27437013		2195	4295	6490	24461139	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3194G>C	17.37:g.27437013C>G	ENSP00000437073:p.Arg1065Pro		24461139	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589841	0.66105	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.88586	-2.29;-2.4;-2.28;-2.28	5.15	5.15	0.70609	Myosin head, motor domain (1);	0.000000	0.64402	D	0.000012	D	0.91002	0.7170	M	0.65975	2.015	0.35859	D	0.827374	B;P;P;D;D	0.55385	0.056;0.866;0.742;0.958;0.971	B;P;P;P;P	0.52881	0.071;0.496;0.496;0.712;0.512	D	0.90395	0.4398	10	0.15952	T	0.53	.	18.5878	0.91197	0.0:1.0:0.0:0.0	.	734;677;1065;1065;1065	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	P	1065;1065;1065;1065;1065;677	ENSP00000346291:R1065P;ENSP00000435932:R1065P;ENSP00000434228:R1065P;ENSP00000437073:R1065P	ENSP00000346291:R1065P	R	-	2	0	MYO18A	24461139	1.000000	0.71417	0.818000	0.32626	0.987000	0.75469	2.514000	0.45503	2.566000	0.86566	0.561000	0.74099	CGA		0.662	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		G	27437013	C	G	27437013	3	3	242	1	0	0	0	0	1	0	0	0	10065	884	31	3	3066	3	MYO18A	17	27437013	Missense_Mutation	SNP	C	TCGA-24-1552-01A-01W-0551-08	19859908	27437013	53758197	29	13577											
OR7G1	125962	broad.mit.edu	37	19	9225745	9225745	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:9225745C>G	ENST00000541538.1	-	1	694	c.695G>C	c.(694-696)aGa>aCa	p.R232T	OR7G1_ENST00000293614.1_Missense_Mutation_p.R232T	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R232T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ATACTTTCCTCTTGCTGATGG	0.398																																																1	Substitution - Missense(1)	ovary(1)	19											87	89	88					19																	9225745		2203	4300	6503	9086745	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.695G>C	19.37:g.9225745C>G	ENSP00000444134:p.Arg232Thr		9086745	Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	c	6.664	0.491005	0.12702	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00115	8.71;8.71	3.12	-0.217	0.13149	GPCR, rhodopsin-like superfamily (1);	0.432076	0.16938	U	0.193374	T	0.00073	0.0002	N	0.11724	0.165	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.16158	-1.0412	10	0.42905	T	0.14	.	3.9164	0.09225	0.0:0.3547:0.189:0.4563	.	232	Q8NGA0	OR7G1_HUMAN	T	232	ENSP00000293614:R232T;ENSP00000444134:R232T	ENSP00000293614:R232T	R	-	2	0	OR7G1	9086745	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.321000	0.19558	0.057000	0.16193	0.501000	0.49751	AGA		0.398	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			G	9225745	C	G	9225745	3	3	242	1	0	0	0	0	1	0	0	0	11222	913	32	3	314	3	OR7G1	19	9225745	Missense_Mutation	SNP	C	TCGA-24-1552-01A-01W-0551-08		9225745	49903238	30	13578											
ZNF208	7757	broad.mit.edu	37	19	22155976	22155976	+	Missense_Mutation	SNP	C	C	A	rs184568351	byFrequency	TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:22155976C>A	ENST00000397126.4	-	4	2008	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K520N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTGAGACCTTACTAAAGG	0.368																																																1	Substitution - Missense(1)	ovary(1)	19											72	77	76					19																	22155976		2114	4252	6366	21947816	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1860G>T	19.37:g.22155976C>A	ENSP00000380315:p.Lys620Asn		21947816		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	1.999	-0.429929	0.04701	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.35605	1.3	2.66	0.0261	0.14148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35128	0.0921	.	.	.	0.09310	N	1	D	0.52996	0.957	P	0.52710	0.707	T	0.20538	-1.0272	8	0.26408	T	0.33	.	5.6278	0.17492	0.0:0.5344:0.3299:0.1357	.	520	O43345	ZN208_HUMAN	N	620;520	ENSP00000380315:K620N	ENSP00000380315:K620N	K	-	3	2	ZNF208	21947816	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-2.854000	0.00730	0.111000	0.17947	0.306000	0.20318	AAG		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		A	22155976	C	A	22155976	3	1	242	1	0	0	0	0	1	0	0	0	17766	680	24	3	1986	3	ZNF208	19	22155976	Missense_Mutation	SNP	C	TCGA-24-1552-01A-01W-0551-08	12930231	22155976	36973007	31	13579											
LRP3	4037	broad.mit.edu	37	19	33696381	33696381	+	Silent	SNP	C	C	T			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:33696381C>T	ENST00000253193.7	+	5	907	c.705C>T	c.(703-705)gaC>gaT	p.D235D	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	235	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.D235D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCGCTGTGACGGCTTGCAGG	0.756																																																1	Substitution - coding silent(1)	ovary(1)	19											6	8	7					19																	33696381		1986	3965	5951	38388221	SO:0001819	synonymous_variant	4037			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.705C>T	19.37:g.33696381C>T			38388221	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																				0.756	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			T	33696381	C	T	33696381	2	4	242	1	0	0	0	0	0	0	0	1	8958	535	19	1		1	LRP3	19	33696381	Silent	SNP	C	TCGA-24-1552-01A-01W-0551-08	11540405	33696381	25432602	32	13580											
DYRK1B	9149	broad.mit.edu	37	19	40319198	40319198	+	Silent	SNP	G	G	A			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:40319198G>A	ENST00000593685.1	-	6	1014	c.546C>T	c.(544-546)ttC>ttT	p.F182F	DYRK1B_ENST00000430012.2_Silent_p.F182F|DYRK1B_ENST00000348817.3_Silent_p.F182F|DYRK1B_ENST00000323039.5_Silent_p.F182F|DYRK1B_ENST00000597639.1_Silent_p.F182F			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.F182F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGTGGTTCCGGAACATGAAGT	0.602																																																1	Substitution - coding silent(1)	ovary(1)	19											61	57	59					19																	40319198		2203	4300	6503	45011038	SO:0001819	synonymous_variant	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.546C>T	19.37:g.40319198G>A			45011038	O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	CCDS12543.1																																																																																				0.602	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		A	40319198	G	A	40319198	2	1	242	1	0	0	0	0	0	0	0	1	4855	1165	41	2		2	DYRK1B	19	40319198	Silent	SNP	G	TCGA-24-1552-01A-01W-0551-08	6622817	40319198	18809785	33	13581											
DYRK1B	9149	broad.mit.edu	37	19	40320646	40320646	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chr19:40320646G>C	ENST00000593685.1	-	5	862	c.394C>G	c.(394-396)Cag>Gag	p.Q132E	DYRK1B_ENST00000430012.2_Missense_Mutation_p.Q132E|DYRK1B_ENST00000348817.3_Missense_Mutation_p.Q132E|DYRK1B_ENST00000323039.5_Missense_Mutation_p.Q132E|DYRK1B_ENST00000597639.1_Missense_Mutation_p.Q132E			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.Q132E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TCCTGGGTCTGATGATCATAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											108	96	100					19																	40320646		2203	4300	6503	45012486	SO:0001583	missense	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.394C>G	19.37:g.40320646G>C	ENSP00000469863:p.Gln132Glu		45012486	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580509	0.46006	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.63913	-0.07;-0.07;-0.07	4.19	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127014	0.53938	D	0.000047	T	0.37945	0.1022	N	0.03177	-0.4	0.48341	D	0.999638	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.14023	0.01;0.007;0.01	T	0.21895	-1.0232	10	0.24483	T	0.36	.	14.0465	0.64708	0.0:0.0:1.0:0.0	.	132;132;132	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	E	132	ENSP00000312789:Q132E;ENSP00000221803:Q132E;ENSP00000403182:Q132E	ENSP00000312789:Q132E	Q	-	1	0	DYRK1B	45012486	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.243000	0.65395	2.169000	0.68431	0.561000	0.74099	CAG		0.557	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		C	40320646	G	C	40320646	3	2	242	1	0	0	0	0	1	0	0	0	4855	1299	45	3	1523	3	DYRK1B	19	40320646	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08	1448	40320646	18808337	34	13582											
SAGE1	55511	broad.mit.edu	37	X	134992667	134992667	+	Missense_Mutation	SNP	G	G	A	rs139744161		TCGA-24-1552-01A-01W-0551-08	TCGA-24-1552-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f1dd9ac-a714-4b26-920c-fc1ee13dc493	85d51d09-1a75-4d66-a21b-6b9a7ced3a97	g.chrX:134992667G>A	ENST00000370709.3	+	15	1958	c.1958G>A	c.(1957-1959)cGt>cAt	p.R653H	SAGE1_ENST00000535938.1_Missense_Mutation_p.R653H|SAGE1_ENST00000324447.3_Missense_Mutation_p.R653H|SAGE1_ENST00000537770.1_Missense_Mutation_p.R277H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	653						nucleus (GO:0005634)		p.R653H(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCATGGCTTCGTCATATGGCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	X						G	HIS/ARG	0,3835		0,0,1632,571	163	134	144		1958	-1	0	X	dbSNP_134	144	1,6727		0,1,2427,1872	no	missense	SAGE1	NM_018666.2	29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	653/905	134992667	1,10562	2203	4300	6503	134820333	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1958G>A	X.37:g.134992667G>A	ENSP00000359743:p.Arg653His		134820333	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156643	0.21454	0.0	1.49E-4	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.37058	1.22;1.22;1.38;1.22	0.494	-0.987	0.10249	.	0.898181	0.09256	U	0.827187	T	0.26882	0.0658	N	0.08118	0	0.09310	N	1	P;D	0.67145	0.956;0.996	B;P	0.56788	0.135;0.806	T	0.14839	-1.0458	9	0.35671	T	0.21	.	.	.	.	.	277;653	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	H	653;653;277;653	ENSP00000323191:R653H;ENSP00000445959:R653H;ENSP00000438276:R277H;ENSP00000359743:R653H	ENSP00000323191:R653H	R	+	2	0	SAGE1	134820333	0.031000	0.19500	0.001000	0.08648	0.012000	0.07955	-0.093000	0.11111	-0.514000	0.06488	0.287000	0.19450	CGT		0.463	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		A	134992667	G	A	134992667	3	1	242	1	0	0	0	0	1	0	0	0	13812	1145	40	1	2016	1	SAGE1	23	134992667	Missense_Mutation	SNP	G	TCGA-24-1552-01A-01W-0551-08		134992667	20277893	35	13583											
SELP	6403	hgsc.bcm.edu	37	1	169582923	169582924	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr1:169582923_169582924delGG	ENST00000263686.6	-	4	526_527	c.489_490delCC	c.(487-492)tgccagfs	p.CQ163fs	SELP_ENST00000367786.2_Frame_Shift_Del_p.CQ163fs|SELP_ENST00000367788.2_Frame_Shift_Del_p.CQ163fs|SELP_ENST00000367794.2_Frame_Shift_Del_p.CQ163fs|SELP_ENST00000367793.2_Frame_Shift_Del_p.CQ163fs|SELP_ENST00000458599.2_Frame_Shift_Del_p.CQ163fs|SELP_ENST00000367792.2_Frame_Shift_Del_p.CQ163fs|SELP_ENST00000367791.2_Frame_Shift_Del_p.CQ163fs	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	163	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.C163fs*1(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GACATGTCCTGGCAGGAGGCTG	0.51																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								167849548	SO:0001589	frameshift_variant	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.489_490delCC	1.37:g.169582923_169582924delGG	ENSP00000263686:p.Cys163fs		167849547	Q5R344|Q8IVD1	Frame_Shift_Del	DEL	ENST00000263686.6	37	CCDS1282.1																																																																																				0.51	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		-	169582924	GG	-	169582923	7	5	243	1	0	1	0	1	0	0	0	0	14022	1357	47	0	2054	0	SELP	1	169582923	Frame_Shift_Del	DEL	GG	TCGA-24-1553-01A-01W-0552-10		169582923	79667698	1	13584											
USH2A	7399	hgsc.bcm.edu	37	1	216595383	216595383	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr1:216595383G>A	ENST00000307340.3	-	2	682	c.296C>T	c.(295-297)gCc>gTc	p.A99V	USH2A_ENST00000366942.3_Missense_Mutation_p.A99V|USH2A_ENST00000366943.2_Missense_Mutation_p.A99V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	99					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A99V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAGAAAAGGGCAGTGTAGGT	0.453										HNSCC(13;0.011)																																						2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	1											117	109	112					1																	216595383		2203	4300	6503	214662006	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.296C>T	1.37:g.216595383G>A	ENSP00000305941:p.Ala99Val		214662006	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276410	0.59649	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19806	2.58;2.58;2.12	5.42	3.49	0.39957	.	1.106060	0.07114	U	0.842689	T	0.22589	0.0545	L	0.59436	1.845	0.23962	N	0.996335	P;B	0.34724	0.465;0.099	B;B	0.31101	0.124;0.082	T	0.22661	-1.0210	10	0.32370	T	0.25	.	10.1323	0.42687	0.0:0.1341:0.5879:0.278	.	99;99	O75445-2;O75445	.;USH2A_HUMAN	V	99	ENSP00000305941:A99V;ENSP00000355910:A99V;ENSP00000355909:A99V	ENSP00000305941:A99V	A	-	2	0	USH2A	214662006	0.015000	0.18098	0.323000	0.25347	0.797000	0.45037	0.422000	0.21296	0.619000	0.30197	0.591000	0.81541	GCC		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216595383	G	A	216595383	3	1	243	1	0	0	0	0	1	0	0	0	17036	1203	42	2	15610	2	USH2A	1	216595383	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10	47012460	216595383	32655238	2	13585											
NAT8B	0	hgsc.bcm.edu	37	2	73928244	73928244	+	IGR	SNP	G	G	A			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr2:73928244G>A								ALMS1P (15541 upstream) : TPRKB (28712 downstream)																							TGAACACGAGGGCCAGAATCC	0.572																																																0			2											76	86	83					2																	73928244		2203	4300	6503	73781752	SO:0001628	intergenic_variant	51471																															2.37:g.73928244G>A			73781752		Silent	SNP		37																																																																																				0	0.572									A	73928244	G	A	73928244	1	1	243	0	1	0	0	0	0	0	0	0	10180	1219	43	2		2	NAT8B	2	73928244	IGR	SNP	G	TCGA-24-1553-01A-01W-0552-10		73928244	169271129	3	13586											
UBP1	7342	hgsc.bcm.edu	37	3	33450220	33450220	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr3:33450220G>A	ENST00000283629.3	-	8	1418	c.889C>T	c.(889-891)Cca>Tca	p.P297S	UBP1_ENST00000283628.5_Missense_Mutation_p.P297S|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Intron	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	297				SSKRTLP -> VQQADFA (in Ref. 1). {ECO:0000305}.	angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P297S(2)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TAGTCTGCTGGCAAAGTCCGC	0.448																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	3											121	115	117					3																	33450220		2203	4300	6503	33425224	SO:0001583	missense	7342			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.889C>T	3.37:g.33450220G>A	ENSP00000283629:p.Pro297Ser		33425224	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011871	0.75046	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.16897	2.31;2.31	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00376	-1.1779	10	0.31617	T	0.26	-11.0023	18.833	0.92148	0.0:0.0:1.0:0.0	.	297	Q9NZI7	UBIP1_HUMAN	S	297	ENSP00000283629:P297S;ENSP00000283628:P297S	ENSP00000283628:P297S	P	-	1	0	UBP1	33425224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.890000	0.99128	0.585000	0.79938	CCA		0.448	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		A	33450220	G	A	33450220	3	1	243	1	0	0	0	0	1	0	0	0	16895	1203	42	2	769	2	UBP1	3	33450220	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10		33450220	164572210	4	13587											
PEX5L	51555	hgsc.bcm.edu	37	3	179592212	179592212	+	Splice_Site	SNP	C	C	G			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr3:179592212C>G	ENST00000467460.1	-	7	960		c.e7-1		PEX5L_ENST00000465751.1_Splice_Site|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000467440.2_Splice_Site|PEX5L_ENST00000468741.1_Splice_Site|PEX5L_ENST00000392649.3_Splice_Site|PEX5L_ENST00000476138.1_Splice_Site|PEX5L_ENST00000485199.1_Splice_Site|PEX5L_ENST00000263962.8_Splice_Site|PEX5L_ENST00000472994.1_Splice_Site|PEX5L_ENST00000464614.1_Splice_Site	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like						maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTCTGAGGACCTATAAGGGAT	0.413																																																1	Unknown(1)	ovary(1)	3											107	101	103					3																	179592212		2203	4300	6503	181074906	SO:0001630	splice_region_variant	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.630-1G>C	3.37:g.179592212C>G			181074906	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Splice_Site	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067866	0.55539	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7747	0.88503	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PEX5L	181074906	1.000000	0.71417	0.997000	0.53966	0.717000	0.41224	4.657000	0.61490	2.708000	0.92522	0.650000	0.86243	.		0.413	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559	Intron	G	179592212	C	G	179592212	5	3	243	1	0	0	0	0	0	0	1	0	11749	695	24	3	1287	3	PEX5L	3	179592212	Splice_Site	SNP	C	TCGA-24-1553-01A-01W-0552-10	146141992	179592212	18430218	5	13588											
CCDC39	339829	hgsc.bcm.edu	37	3	180377277	180377277	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr3:180377277A>G	ENST00000442201.2	-	6	820	c.701T>C	c.(700-702)aTg>aCg	p.M234T	CCDC39_ENST00000273654.4_Missense_Mutation_p.M318T	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	234					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.M318T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCTCTTCTGCATCTGTTCTAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											271	254	259					3																	180377277		1904	4126	6030	181859971	SO:0001583	missense	339829			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.701T>C	3.37:g.180377277A>G	ENSP00000405708:p.Met234Thr		181859971	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754630	0.69648	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.24151	1.87;1.87	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.83012	2.62	0.54753	D	0.999987	D	0.89917	1.0	D	0.79108	0.992	T	0.61811	-0.6986	10	0.72032	D	0.01	-26.2267	15.5832	0.76462	1.0:0.0:0.0:0.0	.	234	Q9UFE4	CCD39_HUMAN	T	318;234	ENSP00000273654:M318T;ENSP00000405708:M234T	ENSP00000273654:M318T	M	-	2	0	CCDC39	181859971	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	6.626000	0.74253	2.087000	0.62958	0.377000	0.23210	ATG		0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		G	180377277	A	G	180377277	3	3	243	1	0	0	0	0	1	0	0	0	2811	217	8	4	2184	4	CCDC39	3	180377277	Missense_Mutation	SNP	A	TCGA-24-1553-01A-01W-0552-10	785065	180377277	17645153	6	13589											
GABRG1	2565	hgsc.bcm.edu	37	4	46043243	46043243	+	Missense_Mutation	SNP	G	G	A	rs575728108		TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr4:46043243G>A	ENST00000295452.4	-	9	1327	c.1160C>T	c.(1159-1161)aCt>aTt	p.T387I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	387					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T387I(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGAATCAGAGTGGATCCAGG	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											60	63	62					4																	46043243		2203	4299	6502	45738000	SO:0001583	missense	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1160C>T	4.37:g.46043243G>A	ENSP00000295452:p.Thr387Ile		45738000	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605754	0.66445	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83992	-1.79	4.7	4.7	0.59300	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.055890	0.64402	D	0.000001	D	0.84862	0.5566	L	0.54323	1.7	0.46356	D	0.999001	P	0.41848	0.763	P	0.48770	0.589	D	0.84877	0.0828	10	0.42905	T	0.14	.	16.7998	0.85611	0.0:0.0:1.0:0.0	.	387	Q8N1C3	GBRG1_HUMAN	I	387	ENSP00000295452:T387I	ENSP00000295452:T387I	T	-	2	0	GABRG1	45738000	0.981000	0.34729	1.000000	0.80357	0.640000	0.38277	5.399000	0.66314	2.436000	0.82500	0.585000	0.79938	ACT		0.383	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		A	46043243	G	A	46043243	3	1	243	1	0	0	0	0	1	0	0	0	6171	1029	36	2	241	2	GABRG1	4	46043243	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10		46043243	145111033	7	13590											
DCHS2	54798	hgsc.bcm.edu	37	4	155305580	155305580	+	Silent	SNP	G	G	A			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr4:155305580G>A	ENST00000357232.4	-	2	173	c.174C>T	c.(172-174)ctC>ctT	p.L58L	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	58	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L58L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tagcaccccagagctcagtct	0.507																																																1	Substitution - coding silent(1)	ovary(1)	4											160	121	134					4																	155305580		2203	4300	6503	155525030	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.174C>T	4.37:g.155305580G>A			155525030	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.507	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155305580	G	A	155305580	2	1	243	1	0	0	0	0	0	0	0	1	4288	929	33	2		2	DCHS2	4	155305580	Silent	SNP	G	TCGA-24-1553-01A-01W-0552-10	109262337	155305580	35848696	8	13591											
GLRA3	8001	hgsc.bcm.edu	37	4	175598272	175598272	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr4:175598272G>A	ENST00000274093.3	-	7	1386	c.884C>T	c.(883-885)aCg>aTg	p.T295M	GLRA3_ENST00000340217.5_Missense_Mutation_p.T295M	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	295					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.T295M(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TGTAGTCATCGTTAGCACAGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	4											109	87	95					4																	175598272		2203	4300	6503	175834847	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.884C>T	4.37:g.175598272G>A	ENSP00000274093:p.Thr295Met		175834847	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281191	0.59758	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.87887	-2.31;-2.31	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94493	0.8227	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95283	0.8388	10	0.87932	D	0	.	18.7161	0.91677	0.0:0.0:1.0:0.0	.	295;295	O75311-2;O75311	.;GLRA3_HUMAN	M	295	ENSP00000274093:T295M;ENSP00000345284:T295M	ENSP00000274093:T295M	T	-	2	0	GLRA3	175834847	1.000000	0.71417	0.901000	0.35422	0.012000	0.07955	9.714000	0.98744	2.415000	0.81967	0.650000	0.86243	ACG		0.458	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			A	175598272	G	A	175598272	3	1	243	1	0	0	0	0	1	0	0	0	6456	1145	40	1	526	1	GLRA3	4	175598272	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10	20292692	175598272	15556004	9	13592											
TRIP13	9319	hgsc.bcm.edu	37	5	914604	914604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr5:914604C>T	ENST00000166345.3	+	11	1401	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	349					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.Q349*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCCTCGCCAGCAGCTGCTGAC	0.502																																																1	Substitution - Nonsense(1)	ovary(1)	5											177	183	181					5																	914604		2203	4300	6503	967604	SO:0001587	stop_gained	9319			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1045C>T	5.37:g.914604C>T	ENSP00000166345:p.Gln349*		967604	C9K0T3|D3DTC0|O15324	Nonsense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	43	10.360373	0.99391	.	.	ENSG00000071539	ENST00000166345	.	.	.	5.8	5.8	0.92144	.	0.104412	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-3.5326	19.6559	0.95842	0.0:1.0:0.0:0.0	.	.	.	.	X	349	.	ENSP00000166345:Q349X	Q	+	1	0	TRIP13	967604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.213000	0.77950	2.755000	0.94549	0.655000	0.94253	CAG		0.502	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		T	914604	C	T	914604	4	4	243	1	0	0	0	0	0	1	0	0	16557	711	25	2	1091	2	TRIP13	5	914604	Nonsense_Mutation	SNP	C	TCGA-24-1553-01A-01W-0552-10		914604	180000656	10	13593											
ADAMTS16	170690	hgsc.bcm.edu	37	5	5239978	5239978	+	Silent	SNP	C	C	G			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr5:5239978C>G	ENST00000274181.7	+	16	2601	c.2463C>G	c.(2461-2463)tcC>tcG	p.S821S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	821	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S821S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACAGACGGTCCTATAATGAGC	0.522																																																2	Substitution - coding silent(2)	ovary(2)	5											98	96	97					5																	5239978		1866	4109	5975	5292978	SO:0001819	synonymous_variant	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2463C>G	5.37:g.5239978C>G			5292978	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																				0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		G	5239978	C	G	5239978	2	3	243	1	0	0	0	0	0	0	0	1	261	668	24	3		3	ADAMTS16	5	5239978	Silent	SNP	C	TCGA-24-1553-01A-01W-0552-10	4325374	5239978	175675282	11	13594											
OXCT1	5019	hgsc.bcm.edu	37	5	41762295	41762295	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr5:41762295A>T	ENST00000196371.5	-	14	1416	c.1256T>A	c.(1255-1257)aTg>aAg	p.M419K	OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000510634.1_Missense_Mutation_p.M22K|OXCT1_ENST00000512084.1_Missense_Mutation_p.M22K|OXCT1_ENST00000509987.1_Missense_Mutation_p.M233K	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	419					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.M419K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TCCTTTCACCATCTTCCCCTG	0.388																																																1	Substitution - Missense(1)	ovary(1)	5											250	233	239					5																	41762295		2203	4300	6503	41798052	SO:0001583	missense	5019			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1256T>A	5.37:g.41762295A>T	ENSP00000196371:p.Met419Lys		41798052	B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690376	0.48097	.	.	ENSG00000083720	ENST00000196371;ENST00000512084;ENST00000510634;ENST00000509987	D;D;D;D	0.86097	-1.69;-2.07;-2.07;-1.69	4.97	4.97	0.65823	3-oxoacid CoA-transferase, subunit B (1);	0.039657	0.85682	D	0.000000	T	0.80276	0.4593	L	0.45698	1.435	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.75077	-0.3445	10	0.25751	T	0.34	-5.947	13.9433	0.64069	1.0:0.0:0.0:0.0	.	419	P55809	SCOT1_HUMAN	K	419;22;22;233	ENSP00000196371:M419K;ENSP00000421143:M22K;ENSP00000423144:M22K;ENSP00000425348:M233K	ENSP00000196371:M419K	M	-	2	0	OXCT1	41798052	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.434000	0.90294	1.973000	0.57446	0.533000	0.62120	ATG		0.388	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		T	41762295	A	T	41762295	3	4	243	1	0	0	0	0	1	0	0	0	11329	217	8	5	322	5	OXCT1	5	41762295	Missense_Mutation	SNP	A	TCGA-24-1553-01A-01W-0552-10	36522317	41762295	139152965	12	13595											
DOCK2	1794	hgsc.bcm.edu	37	5	169483758	169483758	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr5:169483758G>C	ENST00000256935.8	+	43	4446	c.4366G>C	c.(4366-4368)Gag>Cag	p.E1456Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.E948Q|DOCK2_ENST00000540750.1_Missense_Mutation_p.E517Q|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1456	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.E1456Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTAGACCCAGAGAATGAGTT	0.557																																																1	Substitution - Missense(1)	ovary(1)	5											115	89	98					5																	169483758		2203	4300	6503	169416336	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4366G>C	5.37:g.169483758G>C	ENSP00000256935:p.Glu1456Gln		169416336	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578449	0.46006	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.15256	2.44;2.44;2.44	5.27	5.27	0.74061	.	0.277859	0.38897	N	0.001526	T	0.14874	0.0359	L	0.33339	1.005	0.40041	D	0.975655	B;B	0.33748	0.423;0.423	B;B	0.25614	0.062;0.027	T	0.04203	-1.0969	10	0.41790	T	0.15	.	18.8867	0.92381	0.0:0.0:1.0:0.0	.	948;1456	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	1456;948;517	ENSP00000256935:E1456Q;ENSP00000429283:E948Q;ENSP00000438827:E517Q	ENSP00000256935:E1456Q	E	+	1	0	DOCK2	169416336	1.000000	0.71417	0.941000	0.38009	0.435000	0.31806	5.310000	0.65780	2.449000	0.82847	0.650000	0.86243	GAG		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169483758	G	C	169483758	3	2	243	1	0	0	0	0	1	0	0	0	4687	943	33	3	4536	3	DOCK2	5	169483758	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10	127721463	169483758	11431502	13	13596											
SLC17A1	6568	hgsc.bcm.edu	37	6	25819366	25819366	+	Silent	SNP	G	G	C			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr6:25819366G>C	ENST00000244527.4	-	6	661	c.546C>G	c.(544-546)ccC>ccG	p.P182P	SLC17A1_ENST00000476801.1_Silent_p.P182P|SLC17A1_ENST00000427328.1_Silent_p.P182P|SLC17A1_ENST00000468082.1_Silent_p.P182P	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	182					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.P182P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GGACAATAAAGGGTCCCAGCA	0.413																																																1	Substitution - coding silent(1)	ovary(1)	6											48	48	48					6																	25819366		2203	4300	6503	25927345	SO:0001819	synonymous_variant	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.546C>G	6.37:g.25819366G>C			25927345	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	ENST00000244527.4	37	CCDS4565.1																																																																																				0.413	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			C	25819366	G	C	25819366	2	2	243	1	0	0	0	0	0	0	0	1	14419	987	35	3		3	SLC17A1	6	25819366	Silent	SNP	G	TCGA-24-1553-01A-01W-0552-10		25819366	145295701	14	13597											
PKHD1L1	93035	hgsc.bcm.edu	37	8	110460547	110460547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr8:110460547delG	ENST00000378402.5	+	39	6056	c.5952delG	c.(5950-5952)aagfs	p.K1984fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1984	IPT/TIG 12.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T1987fs*33(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCATCATAAGACAAAAGGCT	0.418										HNSCC(38;0.096)																																						1	Deletion - Frameshift(1)	ovary(1)	8											94	93	94					8																	110460547		1988	4186	6174	110529723	SO:0001589	frameshift_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5952delG	8.37:g.110460547delG	ENSP00000367655:p.Lys1984fs		110529723	Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	CCDS47911.1																																																																																				0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		-	110460547	G	-	110460547	7	5	243	1	0	1	0	1	0	0	0	0	11972	933	33	0	6106	0	PKHD1L1	8	110460547	Frame_Shift_Del	DEL	G	TCGA-24-1553-01A-01W-0552-10		110460547	35903475	15	13598											
KIAA1797	54914	hgsc.bcm.edu	37	9	20907201	20907201	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr9:20907201G>T	ENST00000380249.1	+	24	3042	c.2678G>T	c.(2677-2679)tGg>tTg	p.W893L	FOCAD_ENST00000605086.1_Missense_Mutation_p.W329L|FOCAD_ENST00000338382.6_Missense_Mutation_p.W893L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	893						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.W893L(1)									CCACAGGCCTGGCTTGCATAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	9											151	144	146					9																	20907201		2203	4300	6503	20897201	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2678G>T	9.37:g.20907201G>T	ENSP00000369599:p.Trp893Leu		20897201	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214262	0.79352	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.39787	1.06;1.06	5.67	5.67	0.87782	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	L	0.61218	1.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.64732	-0.6338	10	0.72032	D	0.01	-18.665	17.5376	0.87837	0.0:0.0:1.0:0.0	.	893	Q5VW36	K1797_HUMAN	L	893	ENSP00000369599:W893L;ENSP00000344307:W893L	ENSP00000344307:W893L	W	+	2	0	KIAA1797	20897201	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.333000	0.72939	2.671000	0.90904	0.585000	0.79938	TGG		0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		T	20907201	G	T	20907201	3	4	243	1	0	0	0	0	1	0	0	0	8258	1357	47	3	2760	3	KIAA1797	9	20907201	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10		20907201	120306230	16	13599											
MYO3A	53904	hgsc.bcm.edu	37	10	26385321	26385321	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr10:26385321A>G	ENST00000265944.5	+	16	1740	c.1574A>G	c.(1573-1575)aAt>aGt	p.N525S	MYO3A_ENST00000543632.1_Missense_Mutation_p.N525S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	525	Myosin motor.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N525S(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGAGAAAAAAATTTTCATATT	0.323																																																2	Substitution - Missense(2)	ovary(2)	10											30	34	33					10																	26385321		2194	4287	6481	26425327	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1574A>G	10.37:g.26385321A>G	ENSP00000265944:p.Asn525Ser		26425327	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.904706	0.72868	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.88431	-0.92;-2.38	5.48	4.33	0.51752	Myosin head, motor domain (2);	0.042713	0.85682	D	0.000000	D	0.93006	0.7774	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.99;0.994;1.0	D	0.93010	0.6431	10	0.87932	D	0	.	12.136	0.53972	0.8716:0.0:0.0:0.1284	.	525;525;525	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	S	525	ENSP00000265944:N525S;ENSP00000445909:N525S	ENSP00000265944:N525S	N	+	2	0	MYO3A	26425327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	0.993000	0.38866	0.533000	0.62120	AAT		0.323	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		G	26385321	A	G	26385321	3	3	243	1	0	0	0	0	1	0	0	0	10076	101	4	4	1628	4	MYO3A	10	26385321	Missense_Mutation	SNP	A	TCGA-24-1553-01A-01W-0552-10		26385321	109149426	17	13600											
SEMA4G	57715	hgsc.bcm.edu	37	10	102743107	102743107	+	Missense_Mutation	SNP	A	A	T	rs570573396		TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr10:102743107A>T	ENST00000370250.4	+	14	2109	c.1736A>T	c.(1735-1737)gAt>gTt	p.D579V	MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.D584V|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000299179.5_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	579	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.D584V(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGGGGTGATGATGTCCTCCTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	10											49	44	46					10																	102743107		2203	4299	6502	102733097	SO:0001583	missense	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1736A>T	10.37:g.102743107A>T	ENSP00000359270:p.Asp579Val		102733097	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	a	26.1	4.700946	0.88924	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.10005	2.92;2.92	5.61	5.61	0.85477	.	0.093680	0.64402	D	0.000001	T	0.11750	0.0286	L	0.33339	1.005	0.80722	D	1	B	0.27316	0.175	B	0.33846	0.171	T	0.17048	-1.0382	10	0.29301	T	0.29	.	14.9957	0.71431	1.0:0.0:0.0:0.0	.	584	Q9NTN9-2	.	V	579;584	ENSP00000359270:D579V;ENSP00000210633:D584V	ENSP00000210633:D584V	D	+	2	0	SEMA4G	102733097	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.592000	0.90828	2.144000	0.66660	0.449000	0.29647	GAT		0.637	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			T	102743107	A	T	102743107	3	4	243	1	0	0	0	0	1	0	0	0	14039	333	12	5	1805	5	SEMA4G	10	102743107	Missense_Mutation	SNP	A	TCGA-24-1553-01A-01W-0552-10	76357786	102743107	32791640	18	13601											
NUP160	23279	hgsc.bcm.edu	37	11	47814456	47814456	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr11:47814456T>G	ENST00000378460.2	-	28	3378	c.3332A>C	c.(3331-3333)gAa>gCa	p.E1111A	NUP160_ENST00000528071.1_Missense_Mutation_p.E997A|NUP160_ENST00000530326.1_Missense_Mutation_p.E997A	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1111					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.E1111A(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGTTCGAACTTCTCTGCCAAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	11											101	97	99					11																	47814456		2201	4298	6499	47771032	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3332A>C	11.37:g.47814456T>G	ENSP00000367721:p.Glu1111Ala		47771032	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043256	0.75732	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.56103	1.09;0.48;0.53	5.44	5.44	0.79542	.	0.120526	0.56097	D	0.000035	T	0.51618	0.1685	M	0.63843	1.955	0.80722	D	1	D	0.54397	0.966	B	0.43950	0.437	T	0.51132	-0.8744	10	0.16420	T	0.52	.	15.1779	0.72931	0.0:0.0:0.0:1.0	.	1111	Q12769	NU160_HUMAN	A	1111;997;997	ENSP00000367721:E1111A;ENSP00000433590:E997A;ENSP00000432367:E997A	ENSP00000367721:E1111A	E	-	2	0	NUP160	47771032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.068000	0.61886	0.528000	0.53228	GAA		0.403	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		G	47814456	T	G	47814456	3	3	243	1	0	0	0	0	1	0	0	0	10757	1783	62	5	1014	5	NUP160	11	47814456	Missense_Mutation	SNP	T	TCGA-24-1553-01A-01W-0552-10		47814456	87192060	19	13602											
OR4C11	219429	hgsc.bcm.edu	37	11	55371459	55371459	+	Missense_Mutation	SNP	G	G	C	rs189261694		TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr11:55371459G>C	ENST00000302231.4	-	1	415	c.391C>G	c.(391-393)Cca>Gca	p.P131A		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P131A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATGATGGTTGGGTAACGCAAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											91	75	80					11																	55371459		2177	4012	6189	55128035	SO:0001583	missense	219429			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.391C>G	11.37:g.55371459G>C	ENSP00000306651:p.Pro131Ala		55128035	B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	0.088	-1.172178	0.01646	.	.	ENSG00000172188	ENST00000302231	T	0.00958	5.5	4.34	-8.11	0.01082	GPCR, rhodopsin-like superfamily (1);	0.466924	0.18113	N	0.151301	T	0.00552	0.0018	N	0.25647	0.755	0.09310	N	1	B	0.29481	0.245	B	0.23419	0.046	T	0.47249	-0.9132	10	0.16896	T	0.51	.	7.6149	0.28152	0.0738:0.0976:0.1456:0.6829	.	131	Q6IEV9	OR4CB_HUMAN	A	131	ENSP00000306651:P131A	ENSP00000306651:P131A	P	-	1	0	OR4C11	55128035	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-7.185000	0.00042	-1.212000	0.02620	-0.534000	0.04291	CCA		0.453	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		C	55371459	G	C	55371459	3	2	243	1	0	0	0	0	1	0	0	0	11045	1232	43	3	543	3	OR4C11	11	55371459	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10	7557003	55371459	79635057	20	13603											
TOX4	9878	hgsc.bcm.edu	37	14	21961324	21961324	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr14:21961324G>C	ENST00000405508.1	+	8	1825	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	TOX4_ENST00000262709.3_Missense_Mutation_p.E517Q|TOX4_ENST00000448790.2_Missense_Mutation_p.E494Q			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	517	Gln/Pro-rich.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.E517Q(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AAGTAGTCCTGAGCGGCCTAT	0.507																																																1	Substitution - Missense(1)	ovary(1)	14											75	72	73					14																	21961324		2203	4300	6503	21031164	SO:0001583	missense	9878			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1549G>C	14.37:g.21961324G>C	ENSP00000385102:p.Glu517Gln		21031164	B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908124	0.72868	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.11385	2.79;2.79;2.78	5.07	5.07	0.68467	.	0.478604	0.22087	N	0.064802	T	0.11836	0.0288	N	0.19112	0.55	0.40242	D	0.977973	P;P	0.47604	0.898;0.898	P;P	0.46825	0.528;0.528	T	0.12941	-1.0528	10	0.34782	T	0.22	.	17.7451	0.88418	0.0:0.0:1.0:0.0	.	494;517	B4DPY8;O94842	.;TOX4_HUMAN	Q	517;517;494;445	ENSP00000385102:E517Q;ENSP00000262709:E517Q;ENSP00000393080:E494Q	ENSP00000262709:E517Q	E	+	1	0	TOX4	21031164	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.643000	0.61390	2.800000	0.96347	0.455000	0.32223	GAG		0.507	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		C	21961324	G	C	21961324	3	2	243	1	0	0	0	0	1	0	0	0	16380	1291	45	3	1575	3	TOX4	14	21961324	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10		21961324	85388216	21	13604											
FANCM	57697	hgsc.bcm.edu	37	14	45645045	45645045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr14:45645045C>T	ENST00000267430.5	+	14	3173	c.3088C>T	c.(3088-3090)Cga>Tga	p.R1030*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.R1004*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1030					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.R1030*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGAGCATTTACGAAGTGATAA	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							1	Substitution - Nonsense(1)	ovary(1)	14											40	36	37					14																	45645045		2203	4299	6502	44714795	SO:0001587	stop_gained	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3088C>T	14.37:g.45645045C>T	ENSP00000267430:p.Arg1030*		44714795	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588238	0.97684	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	.	.	.	4.87	3.96	0.45880	.	1.249280	0.05215	N	0.507543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.97	0.24644	0.0:0.7265:0.1784:0.0952	.	.	.	.	X	1030;1004;546	.	ENSP00000267430:R1030X	R	+	1	2	FANCM	44714795	0.863000	0.29885	0.066000	0.19879	0.147000	0.21601	1.088000	0.30877	1.123000	0.41961	0.591000	0.81541	CGA		0.378	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		T	45645045	C	T	45645045	4	4	243	1	0	0	0	0	0	1	0	0	5671	528	19	1	3142	1	FANCM	14	45645045	Nonsense_Mutation	SNP	C	TCGA-24-1553-01A-01W-0552-10	23683721	45645045	61704495	22	13605											
FBLN5	10516	hgsc.bcm.edu	37	14	92343944	92343944	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr14:92343944C>G	ENST00000342058.4	-	10	1665	c.1072G>C	c.(1072-1074)Gga>Cga	p.G358R	FBLN5_ENST00000556154.1_Missense_Mutation_p.G363R|FBLN5_ENST00000556961.1_5'Flank|FBLN5_ENST00000267620.10_Missense_Mutation_p.G399R	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	358					cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.G358R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ACGGAGCGTCCTGACACCACG	0.547																																																1	Substitution - Missense(1)	ovary(1)	14											131	111	118					14																	92343944		2203	4300	6503	91413697	SO:0001583	missense	10516			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.1072G>C	14.37:g.92343944C>G	ENSP00000345008:p.Gly358Arg		91413697	O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	CCDS9898.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.642931|4.642931	0.87859|0.87859	.|.	.|.	ENSG00000140092|ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154|ENST00000554121	D;D;D|.	0.82344|.	-1.57;-1.6;-1.56|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.172636|.	0.50627|.	D|.	0.000119|.	T|T	0.54822|0.54822	0.1882|0.1882	L|L	0.29908|0.29908	0.895|0.895	0.53688|0.53688	D|D	0.999973|0.999973	D;P;P|.	0.55385|.	0.971;0.95;0.917|.	P;P;B|.	0.58454|.	0.839;0.667;0.367|.	T|T	0.47522|0.47522	-0.9111|-0.9111	10|5	0.66056|.	D|.	0.02|.	.|.	13.9957|13.9957	0.64397|0.64397	0.0:0.9315:0.0:0.0685|0.0:0.9315:0.0:0.0685	.|.	399;363;358|.	G3XA98;G3V4U0;Q9UBX5|.	.;.;FBLN5_HUMAN|.	R|H	399;358;363|66	ENSP00000267620:G399R;ENSP00000345008:G358R;ENSP00000451982:G363R|.	ENSP00000267620:G455R|.	G|Q	-|-	1|3	0|2	FBLN5|FBLN5	91413697|91413697	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.942000|0.942000	0.58702|0.58702	4.449000|4.449000	0.60034|0.60034	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGA|CAG		0.547	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			G	92343944	C	G	92343944	3	3	243	1	0	0	0	0	1	0	0	0	5700	690	24	3	282	3	FBLN5	14	92343944	Missense_Mutation	SNP	C	TCGA-24-1553-01A-01W-0552-10	46698899	92343944	15005596	23	13606											
TP53	7157	hgsc.bcm.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	243	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-24-1553-01A-01W-0552-10		7578190	73617020	24	13607											
JUP	3728	hgsc.bcm.edu	37	17	39919488	39919488	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr17:39919488A>T	ENST00000393931.3	-	8	1362	c.1244T>A	c.(1243-1245)cTc>cAc	p.L415H	JUP_ENST00000393930.1_Missense_Mutation_p.L415H|JUP_ENST00000310706.5_Missense_Mutation_p.L415H|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	415					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.L415H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CAGGTTGGAGAGTGTGCCCGT	0.562																																					Colon(16;42 520 6044 17852 28530)											1	Substitution - Missense(1)	ovary(1)	17											185	143	157					17																	39919488		2203	4300	6503	37173014	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1244T>A	17.37:g.39919488A>T	ENSP00000377508:p.Leu415His		37173014	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929187	0.52759	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.78003	-1.14;-1.14;-1.14	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90449	0.4437	10	0.87932	D	0	-26.1868	13.8482	0.63481	1.0:0.0:0.0:0.0	.	415	P14923	PLAK_HUMAN	H	415	ENSP00000377507:L415H;ENSP00000311113:L415H;ENSP00000377508:L415H	ENSP00000311113:L415H	L	-	2	0	JUP	37173014	1.000000	0.71417	0.965000	0.40720	0.050000	0.14768	9.010000	0.93611	2.059000	0.61396	0.397000	0.26171	CTC		0.562	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			T	39919488	A	T	39919488	3	4	243	1	0	0	0	0	1	0	0	0	7972	304	11	5	1021	5	JUP	17	39919488	Missense_Mutation	SNP	A	TCGA-24-1553-01A-01W-0552-10	32341298	39919488	41275722	25	13608											
NLRP8	126205	hgsc.bcm.edu	37	19	56490768	56490768	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr19:56490768A>T	ENST00000291971.3	+	9	2956	c.2885A>T	c.(2884-2886)aAc>aTc	p.N962I	NLRP8_ENST00000590542.1_Missense_Mutation_p.N943I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	962					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.N962I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGGCTGGAAAACTGCCTGTTC	0.512																																																1	Substitution - Missense(1)	ovary(1)	19											107	102	104					19																	56490768		2203	4300	6503	61182580	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2885A>T	19.37:g.56490768A>T	ENSP00000291971:p.Asn962Ile		61182580	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	9.317	1.057144	0.19907	.	.	ENSG00000179709	ENST00000291971	T	0.55588	0.51	2.36	-4.45	0.03546	.	.	.	.	.	T	0.34513	0.0900	N	0.21448	0.665	0.09310	N	1	P;B	0.42735	0.788;0.332	P;B	0.44518	0.452;0.191	T	0.23332	-1.0191	9	0.39692	T	0.17	.	3.9846	0.09509	0.5893:0.0:0.2241:0.1866	.	943;962	Q86W28-2;Q86W28	.;NALP8_HUMAN	I	962	ENSP00000291971:N962I	ENSP00000291971:N962I	N	+	2	0	NLRP8	61182580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.827000	0.01704	-1.064000	0.03172	-1.175000	0.01729	AAC		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56490768	A	T	56490768	3	4	243	1	0	0	0	0	1	0	0	0	10483	43	2	5	2919	5	NLRP8	19	56490768	Missense_Mutation	SNP	A	TCGA-24-1553-01A-01W-0552-10		56490768	2638215	26	13609											
CHD6	84181	hgsc.bcm.edu	37	20	40081431	40081431	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr20:40081431C>T	ENST00000373233.3	-	21	3449	c.3272G>A	c.(3271-3273)cGc>cAc	p.R1091H	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1091					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R1091H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCGGAGGTAGCGCCTGGCTTT	0.512																																																1	Substitution - Missense(1)	ovary(1)	20											140	122	128					20																	40081431		2203	4300	6503	39514845	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3272G>A	20.37:g.40081431C>T	ENSP00000362330:p.Arg1091His		39514845	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256533	0.95336	.	.	ENSG00000124177	ENST00000373233	D	0.85258	-1.96	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000019	D	0.86003	0.5829	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	P	0.58210	0.835	D	0.87684	0.2549	10	0.62326	D	0.03	-13.0405	19.2691	0.94002	0.0:1.0:0.0:0.0	.	1091	Q8TD26	CHD6_HUMAN	H	1091	ENSP00000362330:R1091H	ENSP00000362330:R1091H	R	-	2	0	CHD6	39514845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.630000	0.89119	0.591000	0.81541	CGC		0.512	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			T	40081431	C	T	40081431	3	4	243	1	0	0	0	0	1	0	0	0	3329	768	27	1	4943	1	CHD6	20	40081431	Missense_Mutation	SNP	C	TCGA-24-1553-01A-01W-0552-10		40081431	22944089	27	13610											
PTPRT	11122	hgsc.bcm.edu	37	20	41408909	41408909	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr20:41408909G>A	ENST00000373187.1	-	4	516	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	PTPRT_ENST00000373198.4_Missense_Mutation_p.H173Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.H173Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H173Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H173Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H173Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H173Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	173	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.H173Y(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAGCCAGGATGACCCTTCAAT	0.532																																																1	Substitution - Missense(1)	ovary(1)	20											117	116	116					20																	41408909		2070	4206	6276	40842323	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.517C>T	20.37:g.41408909G>A	ENSP00000362283:p.His173Tyr		40842323	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955668	0.92726	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59;4.59;4.59	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.05593	0.0147	N	0.13198	0.31	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.61533	0.824;0.89	T	0.55373	-0.8151	10	0.56958	D	0.05	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	173;173	O14522-1;O14522	.;PTPRT_HUMAN	Y	173	ENSP00000362286:H173Y;ENSP00000362283:H173Y;ENSP00000362289:H173Y;ENSP00000348408:H173Y;ENSP00000362294:H173Y;ENSP00000362280:H173Y;ENSP00000362297:H173Y	ENSP00000348408:H173Y	H	-	1	0	PTPRT	40842323	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.269000	0.78482	2.708000	0.92522	0.650000	0.86243	CAT		0.532	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	41408909	G	A	41408909	3	1	243	1	0	0	0	0	1	0	0	0	12815	1290	45	2	3981	2	PTPRT	20	41408909	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10	1327478	41408909	21616611	28	13611											
BACE2	25825	hgsc.bcm.edu	37	21	42622778	42622778	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr21:42622778C>G	ENST00000330333.6	+	7	1547	c.1084C>G	c.(1084-1086)Ctg>Gtg	p.L362V	BACE2_ENST00000347667.5_Intron|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.L362V	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	362					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)	p.L362V(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTCCATCTACCTGAGAGACGA	0.463																																																1	Substitution - Missense(1)	ovary(1)	21											114	96	102					21																	42622778		2203	4300	6503	41544648	SO:0001583	missense	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1084C>G	21.37:g.42622778C>G	ENSP00000332979:p.Leu362Val		41544648	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683337	0.68157	.	.	ENSG00000182240	ENST00000330333;ENST00000328735;ENST00000544566	T;T	0.47528	0.84;0.84	5.48	3.61	0.41365	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.157332	0.43110	D	0.000607	T	0.56587	0.1995	L	0.56340	1.77	0.46874	D	0.999239	D;P	0.63046	0.992;0.701	P;B	0.61800	0.894;0.266	T	0.58393	-0.7644	10	0.66056	D	0.02	.	8.8844	0.35394	0.257:0.6713:0.0:0.0717	.	362;362	Q9Y5Z0-3;Q9Y5Z0	.;BACE2_HUMAN	V	362;362;267	ENSP00000332979:L362V;ENSP00000333854:L362V	ENSP00000333854:L362V	L	+	1	2	BACE2	41544648	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.992000	0.29667	1.320000	0.45209	0.650000	0.86243	CTG		0.463	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			G	42622778	C	G	42622778	3	3	243	1	0	0	0	0	1	0	0	0	1282	680	24	3	1110	3	BACE2	21	42622778	Missense_Mutation	SNP	C	TCGA-24-1553-01A-01W-0552-10		42622778	5507117	29	13612											
MAPK1	5594	hgsc.bcm.edu	37	22	22160202	22160202	+	Silent	SNP	A	A	T			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chr22:22160202A>T	ENST00000215832.6	-	3	617	c.429T>A	c.(427-429)gcT>gcA	p.A143A	MAPK1_ENST00000544786.1_Silent_p.A143A|MAPK1_ENST00000398822.3_Silent_p.A143A	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.A143A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCAGAACGTTAGCTGAATGGA	0.423																																																1	Substitution - coding silent(1)	ovary(1)	22											204	184	191					22																	22160202		2203	4300	6503	20490202	SO:0001819	synonymous_variant	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.429T>A	22.37:g.22160202A>T			20490202	A8CZ64	Silent	SNP	ENST00000215832.6	37	CCDS13795.1																																																																																				0.423	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			T	22160202	A	T	22160202	2	4	243	1	0	0	0	0	0	0	0	1	9271	407	15	5		5	MAPK1	22	22160202	Silent	SNP	A	TCGA-24-1553-01A-01W-0552-10		22160202	29144364	30	13613											
GRIA3	2892	hgsc.bcm.edu	37	X	122561910	122561910	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1553-01A-01W-0552-10	TCGA-24-1553-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	478be597-c119-482c-9bee-b8558ee02e09	7c5f9a5d-59ec-4bee-a048-abf723b3e091	g.chrX:122561910G>A	ENST00000371251.1	+	12	2048	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	GRIA3_ENST00000542149.1_Missense_Mutation_p.E666K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E666K|GRIA3_ENST00000264357.5_Missense_Mutation_p.E666K			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	666					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.E666K(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTCTCCCATAGAGAGTGCTGA	0.443																																																2	Substitution - Missense(2)	ovary(2)	X											144	122	129					X																	122561910		2203	4300	6503	122389591	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1996G>A	X.37:g.122561910G>A	ENSP00000360297:p.Glu666Lys		122389591	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	31	5.104864	0.94245	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.45	5.45	0.79879	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	L	0.43554	1.36	0.80722	D	1	D;D	0.63046	0.992;0.99	D;D	0.76071	0.987;0.979	T	0.55848	-0.8076	10	0.87932	D	0	.	17.4594	0.87616	0.0:0.0:1.0:0.0	.	666;666	P42263;P42263-2	GRIA3_HUMAN;.	K	666	ENSP00000264357:E666K;ENSP00000446146:E666K;ENSP00000360302:E666K;ENSP00000360297:E666K	ENSP00000264357:E666K	E	+	1	0	GRIA3	122389591	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.423000	0.82170	0.600000	0.82982	GAG		0.443	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		A	122561910	G	A	122561910	3	1	243	1	0	0	0	0	1	0	0	0	6769	943	33	2	2042	2	GRIA3	23	122561910	Missense_Mutation	SNP	G	TCGA-24-1553-01A-01W-0552-10		122561910	32708650	31	13614											
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837322	12837322	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr1:12837322G>T	ENST00000357726.4	+	3	1059	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	344					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.E344D(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGCTGGAGCAAGCTGAGG	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											83	85	85					1																	12837322		2203	4300	6503	12759909	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1032G>T	1.37:g.12837322G>T	ENSP00000350358:p.Glu344Asp		12759909		Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	14.54	2.565123	0.45694	.	.	ENSG00000116726	ENST00000357726	T	0.03889	3.77	2.83	0.918	0.19386	.	0.451826	0.22443	N	0.059998	T	0.19846	0.0477	M	0.93197	3.39	0.09310	N	1	D	0.58970	0.984	P	0.58928	0.848	T	0.04017	-1.0984	10	0.66056	D	0.02	.	6.7937	0.23713	0.2454:0.0:0.7546:0.0	.	344	O95522	PRA12_HUMAN	D	344	ENSP00000350358:E344D	ENSP00000350358:E344D	E	+	3	2	PRAMEF12	12759909	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	0.106000	0.15354	0.248000	0.21435	0.205000	0.17691	GAG		0.597	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		T	12837322	G	T	12837322	3	4	244	1	0	0	0	0	1	0	0	0	12431	962	34	3	1042	3	PRAMEF12	1	12837322	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10		12837322	236413299	1	13615											
TXLNA	200081	hgsc.bcm.edu	37	1	32657974	32657974	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr1:32657974G>T	ENST00000373609.1	+	6	1307	c.1026G>T	c.(1024-1026)caG>caT	p.Q342H	TXLNA_ENST00000373610.3_Missense_Mutation_p.Q342H			P40222	TXLNA_HUMAN	taxilin alpha	342					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.Q342H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCAAGCTCCAGCAGGCCCAGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											72	70	71					1																	32657974		2203	4300	6503	32430561	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1026G>T	1.37:g.32657974G>T	ENSP00000362711:p.Gln342His		32430561	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340480	0.41498	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.79454	-1.27;-1.27	5.55	4.63	0.57726	.	0.149749	0.64402	D	0.000009	T	0.68705	0.3030	L	0.38953	1.18	0.52099	D	0.999944	B	0.14012	0.009	B	0.23852	0.049	T	0.65376	-0.6183	10	0.48119	T	0.1	-30.2009	10.3041	0.43670	0.0706:0.0:0.7941:0.1353	.	342	P40222	TXLNA_HUMAN	H	342	ENSP00000362712:Q342H;ENSP00000362711:Q342H	ENSP00000362711:Q342H	Q	+	3	2	TXLNA	32430561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.094000	0.30951	1.482000	0.48325	0.585000	0.79938	CAG		0.582	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		T	32657974	G	T	32657974	3	4	244	1	0	0	0	0	1	0	0	0	16787	962	34	3	1048	3	TXLNA	1	32657974	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10	19820652	32657974	216592647	2	13616											
SLAMF6	114836	hgsc.bcm.edu	37	1	160461154	160461154	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr1:160461154G>T	ENST00000368057.3	-	3	467	c.407C>A	c.(406-408)aCc>aAc	p.T136N	SLAMF6_ENST00000368059.3_Missense_Mutation_p.T136N|SLAMF6_ENST00000368055.1_Missense_Mutation_p.T25N			Q96DU3	SLAF6_HUMAN	SLAM family member 6	136	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T136N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ACTGTGATTGGTAACTTGTAT	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											102	97	98					1																	160461154		2203	4300	6503	158727778	SO:0001583	missense	114836			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.407C>A	1.37:g.160461154G>T	ENSP00000357036:p.Thr136Asn		158727778	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	4.296	0.054120	0.08291	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.38240	1.15;1.15;1.15	4.37	0.223	0.15292	Immunoglobulin-like fold (1);	1.155870	0.06227	N	0.687987	T	0.13200	0.0320	L	0.52823	1.66	0.09310	N	1	B;B;B;B;B;B	0.18461	0.028;0.015;0.004;0.004;0.005;0.005	B;B;B;B;B;B	0.15052	0.012;0.012;0.004;0.004;0.006;0.006	T	0.32214	-0.9915	10	0.38643	T	0.18	-0.1063	5.1169	0.14838	0.1769:0.0:0.5205:0.3026	.	25;25;87;136;136;136	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	N	136;136;25	ENSP00000357038:T136N;ENSP00000357036:T136N;ENSP00000357034:T25N	ENSP00000357034:T25N	T	-	2	0	SLAMF6	158727778	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.009000	0.13219	-0.040000	0.13580	-0.808000	0.03180	ACC		0.428	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		T	160461154	G	T	160461154	3	4	244	1	0	0	0	0	1	0	0	0	14371	1261	44	3	615	3	SLAMF6	1	160461154	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10	127803180	160461154	88789467	3	13617											
PPFIA4	8497	hgsc.bcm.edu	37	1	203030110	203030110	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr1:203030110G>A	ENST00000447715.2	+	28	3172	c.2731G>A	c.(2731-2733)Gtc>Atc	p.V911I	PPFIA4_ENST00000599966.1_Missense_Mutation_p.V427I|PPFIA4_ENST00000272198.6_Missense_Mutation_p.V427I|PPFIA4_ENST00000295706.4_Missense_Mutation_p.V427I|PPFIA4_ENST00000414050.2_Missense_Mutation_p.V640I|PPFIA4_ENST00000367240.2_Missense_Mutation_p.V912I			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	911					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.V1066I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TTCTGGGAATGTCTGGGTCAC	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											153	155	154					1																	203030110		1900	4114	6014	201296733	SO:0001583	missense	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2731G>A	1.37:g.203030110G>A	ENSP00000402576:p.Val911Ile		201296733	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	G	33	5.218702	0.95104	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.28255	2.03;1.72;1.62;1.7;1.65	5.11	5.11	0.69529	.	0.000000	0.40818	N	0.001001	T	0.54581	0.1867	M	0.64997	1.995	0.80722	D	1	P;B;P;D;D	0.64830	0.947;0.347;0.483;0.994;0.99	P;B;B;D;D	0.81914	0.667;0.261;0.317;0.995;0.989	T	0.52786	-0.8529	10	0.51188	T	0.08	-34.0796	18.7385	0.91765	0.0:0.0:1.0:0.0	.	640;911;122;427;427	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	I	912;911;427;640;427	ENSP00000356209:V912I;ENSP00000402576:V911I;ENSP00000295706:V427I;ENSP00000400379:V640I;ENSP00000272198:V427I	ENSP00000272198:V427I	V	+	1	0	PPFIA4	201296733	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.657000	0.98554	2.655000	0.90218	0.655000	0.94253	GTC		0.557	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		A	203030110	G	A	203030110	3	1	244	1	0	0	0	0	1	0	0	0	12312	1377	48	2	1317	2	PPFIA4	1	203030110	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10	42568956	203030110	46220511	4	13618											
CTSE	1510	hgsc.bcm.edu	37	1	206320307	206320307	+	Silent	SNP	C	C	T	rs74145077	byFrequency	TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr1:206320307C>T	ENST00000358184.2	+	4	568	c.450C>T	c.(448-450)gcC>gcT	p.A150A	CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000361052.3_Silent_p.A150A|CTSE_ENST00000432969.2_Silent_p.A75A|CTSE_ENST00000360218.2_Silent_p.A150A	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	150					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.A150A(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCATTGGAGCCGACCAAGTCT	0.488													C|||	148	0.0295527	0.1067	0.0101	5008	,	,		19631	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1						C	,	386,4020	195.3+/-220.0	27,332,1844	92	91	91		450,450	-8.9	0.1	1	dbSNP_130	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CTSE	NM_001910.3,NM_148964.2	,	27,333,6143	TT,TC,CC		0.0116,8.7608,2.9755	,	150/397,150/364	206320307	387,12619	2203	4300	6503	204486930	SO:0001819	synonymous_variant	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.450C>T	1.37:g.206320307C>T			204486930	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Silent	SNP	ENST00000358184.2	37	CCDS1462.1																																																																																				0.488	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		T	206320307	C	T	206320307	2	4	244	1	0	0	0	0	0	0	0	1	4033	639	23	1		1	CTSE	1	206320307	Silent	SNP	C	TCGA-24-1555-01A-01W-0552-10	3290197	206320307	42930314	5	13619											
ACTN2	88	hgsc.bcm.edu	37	1	236900457	236900457	+	Silent	SNP	T	T	G			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr1:236900457T>G	ENST00000366578.4	+	9	985	c.819T>G	c.(817-819)ctT>ctG	p.L273L	ACTN2_ENST00000542672.1_Silent_p.L273L|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	273					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.L273L(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTAAGGTTCTTGCTGTGAATC	0.498																																																1	Substitution - coding silent(1)	ovary(1)	1											124	114	117					1																	236900457		2203	4300	6503	234967080	SO:0001819	synonymous_variant	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.819T>G	1.37:g.236900457T>G			234967080	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																				0.498	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		G	236900457	T	G	236900457	2	3	244	1	0	0	0	0	0	0	0	1	205	1799	63	5		5	ACTN2	1	236900457	Silent	SNP	T	TCGA-24-1555-01A-01W-0552-10	30580150	236900457	12350164	6	13620											
CRIM1	51232	hgsc.bcm.edu	37	2	36764558	36764558	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr2:36764558G>A	ENST00000280527.2	+	14	2859	c.2492G>A	c.(2491-2493)cGg>cAg	p.R831Q	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	831	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R831Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GACGAGGAGCGGTGGGACCTT	0.582																																																1	Substitution - Missense(1)	ovary(1)	2											102	92	96					2																	36764558		2203	4300	6503	36618062	SO:0001583	missense	51232			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2492G>A	2.37:g.36764558G>A	ENSP00000280527:p.Arg831Gln		36618062	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.624272	0.87560	.	.	ENSG00000150938	ENST00000280527	T	0.71341	-0.56	5.12	5.12	0.69794	von Willebrand factor, type C (3);	0.066693	0.53938	D	0.000043	T	0.68476	0.3005	N	0.05608	-0.01	0.53005	D	0.999966	D	0.76494	0.999	D	0.80764	0.994	T	0.65800	-0.6080	10	0.12766	T	0.61	-20.8205	17.6738	0.88225	0.0:0.0:1.0:0.0	.	831	Q9NZV1	CRIM1_HUMAN	Q	831	ENSP00000280527:R831Q	ENSP00000280527:R831Q	R	+	2	0	CRIM1	36618062	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.475000	0.90417	2.395000	0.81488	0.627000	0.83407	CGG		0.582	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		A	36764558	G	A	36764558	3	1	244	1	0	0	0	0	1	0	0	0	3873	1116	39	1	2546	1	CRIM1	2	36764558	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10		36764558	206434815	7	13621											
GOLGA4	2803	hgsc.bcm.edu	37	3	37365328	37365328	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr3:37365328C>G	ENST00000361924.2	+	14	2325	c.1951C>G	c.(1951-1953)Caa>Gaa	p.Q651E	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q673E|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	651	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.Q651E(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGTGTGAACAAGAAAAAGA	0.363																																																1	Substitution - Missense(1)	ovary(1)	3											53	55	54					3																	37365328		2203	4300	6503	37340332	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1951C>G	3.37:g.37365328C>G	ENSP00000354486:p.Gln651Glu		37340332	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	6.225	0.409651	0.11812	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.23754	1.9;1.89;1.93	4.96	4.07	0.47477	.	0.000000	0.34986	N	0.003522	T	0.18800	0.0451	L	0.52266	1.64	0.25536	N	0.987224	P;P;P;B	0.40794	0.729;0.729;0.729;0.031	B;B;B;B	0.32805	0.153;0.153;0.153;0.007	T	0.19582	-1.0301	10	0.06891	T	0.86	.	14.6734	0.68961	0.0:0.724:0.276:0.0	.	651;651;673;651	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	E	651;673;212;522	ENSP00000354486:Q651E;ENSP00000349305:Q673E;ENSP00000405842:Q522E	ENSP00000349305:Q673E	Q	+	1	0	GOLGA4	37340332	0.004000	0.15560	0.473000	0.27253	0.638000	0.38207	0.778000	0.26732	1.196000	0.43129	0.655000	0.94253	CAA		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		G	37365328	C	G	37365328	3	3	244	1	0	0	0	0	1	0	0	0	6555	479	17	3	2075	3	GOLGA4	3	37365328	Missense_Mutation	SNP	C	TCGA-24-1555-01A-01W-0552-10		37365328	160657102	8	13622											
LIMD1	8994	hgsc.bcm.edu	37	3	45636879	45636879	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr3:45636879G>T	ENST00000273317.4	+	1	529	c.508G>T	c.(508-510)Gat>Tat	p.D170Y	LIMD1_ENST00000440097.1_Missense_Mutation_p.D170Y|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	170					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D170Y(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCTGTGAGGATCCTTCCTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											82	83	83					3																	45636879		2203	4300	6503	45611883	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.508G>T	3.37:g.45636879G>T	ENSP00000273317:p.Asp170Tyr		45611883	Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261854	0.59431	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.59502	0.26;0.45	4.7	3.79	0.43588	.	0.635376	0.15119	N	0.279520	T	0.54351	0.1853	L	0.27053	0.805	0.28481	N	0.914943	D	0.56968	0.978	P	0.52267	0.694	T	0.52117	-0.8618	10	0.66056	D	0.02	.	12.1725	0.54167	0.0:0.1713:0.8287:0.0	.	170	Q9UGP4	LIMD1_HUMAN	Y	170	ENSP00000394537:D170Y;ENSP00000273317:D170Y	ENSP00000273317:D170Y	D	+	1	0	LIMD1	45611883	0.997000	0.39634	0.995000	0.50966	0.856000	0.48823	4.435000	0.59941	2.158000	0.67659	0.462000	0.41574	GAT		0.582	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		T	45636879	G	T	45636879	3	4	244	1	0	0	0	0	1	0	0	0	8798	1174	41	3	510	3	LIMD1	3	45636879	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10	8271551	45636879	152385551	9	13623											
PARP3	10039	hgsc.bcm.edu	37	3	51981825	51981825	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr3:51981825A>T	ENST00000417220.2	+	11	1834	c.1346A>T	c.(1345-1347)gAg>gTg	p.E449V	PARP3_ENST00000431474.1_Missense_Mutation_p.E449V|PARP3_ENST00000398755.3_Missense_Mutation_p.E456V|PARP3_ENST00000486510.1_3'UTR			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	449	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G23G(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGGGCAGAGAGCACCATATC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	3											163	162	162					3																	51981825		2082	4212	6294	51956865	SO:0001583	missense	10039			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1346A>T	3.37:g.51981825A>T	ENSP00000395951:p.Glu449Val		51956865	Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376601	0.42105	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755	T;T;T	0.12774	2.65;2.65;2.65	5.2	2.63	0.31362	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.102946	0.64402	N	0.000004	T	0.08802	0.0218	L	0.31926	0.97	0.52099	D	0.999943	B;B	0.25272	0.104;0.122	B;B	0.32762	0.052;0.152	T	0.13442	-1.0509	10	0.02654	T	1	-27.6096	7.1071	0.25370	0.6185:0.1304:0.0:0.2511	.	456;449	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	V	449;449;456	ENSP00000395951:E449V;ENSP00000401511:E449V;ENSP00000381740:E456V	ENSP00000381740:E456V	E	+	2	0	PARP3	51956865	1.000000	0.71417	0.997000	0.53966	0.687000	0.40016	4.977000	0.63792	0.792000	0.33850	0.459000	0.35465	GAG		0.602	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		T	51981825	A	T	51981825	3	4	244	1	0	0	0	0	1	0	0	0	11462	304	11	5	1405	5	PARP3	3	51981825	Missense_Mutation	SNP	A	TCGA-24-1555-01A-01W-0552-10	6344946	51981825	146040605	10	13624											
TKT	7086	hgsc.bcm.edu	37	3	53260781	53260781	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr3:53260781A>C	ENST00000462138.1	-	13	1775	c.1687T>G	c.(1687-1689)Tat>Gat	p.Y563D	TKT_ENST00000296289.6_Missense_Mutation_p.Y516D|TKT_ENST00000423516.1_Missense_Mutation_p.Y571D|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.Y563D			P29401	TKT_HUMAN	transketolase	563					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)	p.Y563D(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCTTCATAATAATGGTCCTCC	0.617																																					Colon(133;1506 2347 35238 42177)											1	Substitution - Missense(1)	ovary(1)	3											112	102	106					3																	53260781		2203	4300	6503	53235821	SO:0001583	missense	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1687T>G	3.37:g.53260781A>C	ENSP00000417773:p.Tyr563Asp		53235821	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.522870	0.64747	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.14	5.14	0.70334	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.994	D	0.96076	0.9050	10	0.66056	D	0.02	-17.4573	14.9669	0.71201	1.0:0.0:0.0:0.0	.	571;480;563	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	D	563;563;571;516;397	ENSP00000417773:Y563D;ENSP00000405455:Y563D;ENSP00000391481:Y571D;ENSP00000296289:Y516D	ENSP00000296289:Y516D	Y	-	1	0	TKT	53235821	1.000000	0.71417	0.936000	0.37596	0.298000	0.27526	9.253000	0.95501	1.953000	0.56701	0.533000	0.62120	TAT		0.617	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			C	53260781	A	C	53260781	3	2	244	1	0	0	0	0	1	0	0	0	15934	362	13	5	192	5	TKT	3	53260781	Missense_Mutation	SNP	A	TCGA-24-1555-01A-01W-0552-10	1278956	53260781	144761649	11	13625											
ADAMTS9	56999	hgsc.bcm.edu	37	3	64587734	64587734	+	Silent	SNP	G	G	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr3:64587734G>A	ENST00000498707.1	-	26	4245	c.3903C>T	c.(3901-3903)gaC>gaT	p.D1301D	ADAMTS9_ENST00000295903.4_Silent_p.D1273D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1301					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1301D(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTAAGCCACTGTCTGGGGTCC	0.567																																																1	Substitution - coding silent(1)	ovary(1)	3											167	156	160					3																	64587734		2203	4300	6503	64562774	SO:0001819	synonymous_variant	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3903C>T	3.37:g.64587734G>A			64562774	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	8.077	0.771564	0.16051	.	.	ENSG00000163638	ENST00000481060	.	.	.	5.18	4.31	0.51392	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.29095	N	0.881854	.	.	.	.	.	.	T	0.30650	-0.9971	4	.	.	.	.	10.3552	0.43960	0.206:0.0:0.794:0.0	.	.	.	.	I	357	.	.	T	-	2	0	ADAMTS9	64562774	0.981000	0.34729	0.582000	0.28627	0.995000	0.86356	2.520000	0.45554	1.408000	0.46895	0.591000	0.81541	ACA		0.567	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			A	64587734	G	A	64587734	2	1	244	1	0	0	0	0	0	0	0	1	273	1368	48	2		2	ADAMTS9	3	64587734	Silent	SNP	G	TCGA-24-1555-01A-01W-0552-10	11326953	64587734	133434696	12	13626											
SLC7A14	57709	hgsc.bcm.edu	37	3	170198580	170198580	+	Silent	SNP	C	C	T	rs145787666	byFrequency	TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr3:170198580C>T	ENST00000231706.5	-	7	1806	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	497					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.G497G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGTCTGATTTCCCTATGAGCA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	3											222	224	223					3																	170198580		2203	4300	6503	171681274	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1491G>A	3.37:g.170198580C>T			171681274	B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																				0.488	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		T	170198580	C	T	170198580	2	4	244	1	0	0	0	0	0	0	0	1	14699	842	30	2		2	SLC7A14	3	170198580	Silent	SNP	C	TCGA-24-1555-01A-01W-0552-10	105610846	170198580	27823850	13	13627											
CLPTM1L	81037	hgsc.bcm.edu	37	5	1341926	1341926	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr5:1341926A>G	ENST00000320895.5	-	3	570	c.313T>C	c.(313-315)Tat>Cat	p.Y105H	CLPTM1L_ENST00000507807.1_5'Flank|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.Y105H	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	105					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Y105H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ATGTAGGCATACAGCGTCCCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	5											146	113	124					5																	1341926		2203	4300	6503	1394926	SO:0001583	missense	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.313T>C	5.37:g.1341926A>G	ENSP00000313854:p.Tyr105His		1394926	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967840	0.74131	.	.	ENSG00000049656	ENST00000320895;ENST00000320927	T;T	0.60424	0.27;0.19	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	L	0.56124	1.755	0.80722	D	1	D	0.54207	0.965	P	0.55345	0.774	T	0.68469	-0.5400	10	0.52906	T	0.07	-19.778	15.4022	0.74849	1.0:0.0:0.0:0.0	.	105	Q96KA5	CLP1L_HUMAN	H	105	ENSP00000313854:Y105H;ENSP00000315196:Y105H	ENSP00000313854:Y105H	Y	-	1	0	CLPTM1L	1394926	1.000000	0.71417	0.856000	0.33681	0.759000	0.43091	8.588000	0.90813	2.092000	0.63282	0.533000	0.62120	TAT		0.493	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		G	1341926	A	G	1341926	3	3	244	1	0	0	0	0	1	0	0	0	3555	391	14	4	1363	4	CLPTM1L	5	1341926	Missense_Mutation	SNP	A	TCGA-24-1555-01A-01W-0552-10		1341926	179573334	14	13628											
ZNF451	26036	hgsc.bcm.edu	37	6	57012439	57012439	+	Missense_Mutation	SNP	G	G	T	rs140160169		TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr6:57012439G>T	ENST00000370706.4	+	10	1800	c.1556G>T	c.(1555-1557)cGg>cTg	p.R519L	RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R519L|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R519L|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R519L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CACATGAGCCGGATTCACGGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											189	180	183					6																	57012439		2203	4300	6503	57120398	SO:0001583	missense	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1556G>T	6.37:g.57012439G>T	ENSP00000359740:p.Arg519Leu		57120398	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604388	0.87157	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.10960	2.82;2.82;2.82	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.22695	-1.0209	10	0.72032	D	0.01	-12.1449	19.216	0.93778	0.0:0.0:1.0:0.0	.	519;519;519;519	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	L	519	ENSP00000359740:R519L;ENSP00000350083:R519L;ENSP00000421645:R519L	ENSP00000350083:R519L	R	+	2	0	ZNF451	57120398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.035000	0.93752	2.529000	0.85273	0.650000	0.86243	CGG		0.408	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		T	57012439	G	T	57012439	3	4	244	1	0	0	0	0	1	0	0	0	17922	1116	39	3	1594	3	ZNF451	6	57012439	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10		57012439	114102628	15	13629											
DGKB	1607	hgsc.bcm.edu	37	7	14613881	14613881	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr7:14613881G>A	ENST00000403951.2	-	20	2148	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	DGKB_ENST00000399322.3_Missense_Mutation_p.P577S|DGKB_ENST00000406247.3_Missense_Mutation_p.P577S|DGKB_ENST00000407950.1_Missense_Mutation_p.P569S|DGKB_ENST00000444700.2_Missense_Mutation_p.P558S|DGKB_ENST00000258767.5_Missense_Mutation_p.P577S|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.P576S			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	577					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.P577S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TAAGGCACTGGGTCTCCTTTC	0.363																																																1	Substitution - Missense(1)	ovary(1)	7											242	225	231					7																	14613881		1895	4110	6005	14580406	SO:0001583	missense	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1729C>T	7.37:g.14613881G>A	ENSP00000385780:p.Pro577Ser		14580406	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438312	0.83885	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79653	-1.21;-1.21;-1.21;-1.21;-1.2;-1.2;-1.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	L	0.45422	1.42	0.80722	D	1	B;B;B;P	0.44478	0.361;0.168;0.086;0.836	B;B;B;P	0.44561	0.222;0.106;0.131;0.453	T	0.77378	-0.2610	10	0.33940	T	0.23	.	19.9574	0.97228	0.0:0.0:1.0:0.0	.	576;558;577;577	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	S	577;577;577;576;569;558;577	ENSP00000385780:P577S;ENSP00000382260:P577S;ENSP00000258767:P577S;ENSP00000384909:P576S;ENSP00000385031:P569S;ENSP00000388451:P558S;ENSP00000386066:P577S	ENSP00000258767:P577S	P	-	1	0	DGKB	14580406	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	2.715000	0.92844	0.561000	0.74099	CCA		0.363	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		A	14613881	G	A	14613881	3	1	244	1	0	0	0	0	1	0	0	0	4466	1232	43	2	728	2	DGKB	7	14613881	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10		14613881	144524782	16	13630											
HECW1	23072	hgsc.bcm.edu	37	7	43590042	43590042	+	Splice_Site	SNP	A	A	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr7:43590042A>T	ENST00000395891.2	+	27	4853		c.e27-1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTTTCCTACAAGGTCACGGAA	0.493																																																1	Unknown(1)	ovary(1)	7											73	81	78					7																	43590042		2131	4259	6390	43556567	SO:0001630	splice_region_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4249-1A>T	7.37:g.43590042A>T			43556567	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Splice_Site	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486941	0.84854	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8276	0.78727	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECW1	43556567	1.000000	0.71417	0.966000	0.40874	0.822000	0.46500	8.864000	0.92294	2.122000	0.65172	0.533000	0.62120	.		0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	Intron	T	43590042	A	T	43590042	5	4	244	1	0	0	0	0	0	0	1	0	7042	86	3	5	4345	5	HECW1	7	43590042	Splice_Site	SNP	A	TCGA-24-1555-01A-01W-0552-10	28976161	43590042	115548621	17	13631											
LAMB1	3912	hgsc.bcm.edu	37	7	107599755	107599755	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr7:107599755C>T	ENST00000222399.6	-	20	2859	c.2629G>A	c.(2629-2631)Gac>Aac	p.D877N	LAMB1_ENST00000393561.1_Missense_Mutation_p.D901N	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	877	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.D877N(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GTCACTGGGTCGCAGTCATCG	0.552																																																1	Substitution - Missense(1)	ovary(1)	7											143	131	135					7																	107599755		2203	4300	6503	107386991	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2629G>A	7.37:g.107599755C>T	ENSP00000222399:p.Asp877Asn		107386991	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821952	0.50633	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.62941	-0.01;-0.01	5.55	4.67	0.58626	EGF-like, laminin (3);	.	.	.	.	T	0.49695	0.1572	L	0.39514	1.22	0.80722	D	1	P;B	0.40970	0.734;0.136	B;B	0.37888	0.26;0.023	T	0.49041	-0.8980	9	0.38643	T	0.18	.	8.7556	0.34643	0.0:0.7661:0.0:0.2339	.	877;901	P07942;G3XAI2	LAMB1_HUMAN;.	N	901;877	ENSP00000377191:D901N;ENSP00000222399:D877N	ENSP00000222399:D877N	D	-	1	0	LAMB1	107386991	0.977000	0.34250	0.938000	0.37757	0.683000	0.39861	2.365000	0.44196	1.578000	0.49821	0.655000	0.94253	GAC		0.552	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		T	107599755	C	T	107599755	3	4	244	1	0	0	0	0	1	0	0	0	8610	884	31	1	2791	1	LAMB1	7	107599755	Missense_Mutation	SNP	C	TCGA-24-1555-01A-01W-0552-10	64009713	107599755	51538908	18	13632											
SCAI	286205	hgsc.bcm.edu	37	9	127818182	127818182	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr9:127818182T>A	ENST00000336505.6	-	3	261	c.203A>T	c.(202-204)aAa>aTa	p.K68I	SCAI_ENST00000373549.4_Missense_Mutation_p.K91I	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	68	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.K91I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTGCTTAGATTTATCCAGAAG	0.378																																																1	Substitution - Missense(1)	ovary(1)	9											110	101	104					9																	127818182		1830	4082	5912	126858003	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.203A>T	9.37:g.127818182T>A	ENSP00000336756:p.Lys68Ile		126858003	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796418	0.90453	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.53423	0.62;0.62	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	M	0.86864	2.845	0.58432	D	0.999998	D;D	0.76494	0.997;0.999	D;D	0.83275	0.996;0.996	T	0.78478	-0.2188	10	0.87932	D	0	-18.4064	14.9534	0.71091	0.0:0.0:0.0:1.0	.	68;91	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	I	68;91	ENSP00000336756:K68I;ENSP00000362650:K91I	ENSP00000336756:K68I	K	-	2	0	SCAI	126858003	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.132000	0.65825	0.533000	0.62120	AAA		0.378	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		A	127818182	T	A	127818182	3	1	244	1	0	0	0	0	1	0	0	0	13872	1841	64	5	1681	5	SCAI	9	127818182	Missense_Mutation	SNP	T	TCGA-24-1555-01A-01W-0552-10		127818182	13395249	19	13633											
COL17A1	1308	hgsc.bcm.edu	37	10	105821222	105821222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr10:105821222delA	ENST00000353479.5	-	13	1210	c.920delT	c.(919-921)gtgfs	p.V307fs	COL17A1_ENST00000393211.3_Frame_Shift_Del_p.V307fs|COL17A1_ENST00000369733.3_Frame_Shift_Del_p.V307fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	307	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V307fs*12(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTTTTTCTTCACCCCATATGC	0.607																																																1	Deletion - Frameshift(1)	ovary(1)	10											61	49	53					10																	105821222		2203	4300	6503	105811212	SO:0001589	frameshift_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.920delT	10.37:g.105821222delA	ENSP00000340937:p.Val307fs		105811212	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Del	DEL	ENST00000353479.5	37	CCDS7554.1																																																																																				0.607	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		-	105821222	A	-	105821222	7	5	244	1	0	1	0	1	0	0	0	0	3674	159	6	0	3749	0	COL17A1	10	105821222	Frame_Shift_Del	DEL	A	TCGA-24-1555-01A-01W-0552-10		105821222	29713525	20	13634											
OR5B17	219965	hgsc.bcm.edu	37	11	58126355	58126355	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr11:58126355T>C	ENST00000357377.3	-	1	187	c.188A>G	c.(187-189)aAc>aGc	p.N63S		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N63S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGAGACAGGTTACTGAGAAA	0.468																																																1	Substitution - Missense(1)	ovary(1)	11											76	73	74					11																	58126355		2201	4295	6496	57882931	SO:0001583	missense	219965			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.188A>G	11.37:g.58126355T>C	ENSP00000349945:p.Asn63Ser		57882931	Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	t	11.36	1.617106	0.28801	.	.	ENSG00000197786	ENST00000357377	T	0.12774	2.65	3.41	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24275	0.0588	L	0.50333	1.59	0.21861	N	0.999506	D	0.62365	0.991	P	0.58721	0.844	T	0.05194	-1.0900	9	0.33141	T	0.24	-9.3293	10.8511	0.46771	0.0:0.0:0.0:1.0	.	63	Q8NGF7	OR5BH_HUMAN	S	63	ENSP00000349945:N63S	ENSP00000349945:N63S	N	-	2	0	OR5B17	57882931	0.891000	0.30450	0.083000	0.20561	0.214000	0.24535	3.995000	0.57001	1.421000	0.47157	0.378000	0.23410	AAC		0.468	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		C	58126355	T	C	58126355	3	2	244	1	0	0	0	0	1	0	0	0	11149	1725	60	4	758	4	OR5B17	11	58126355	Missense_Mutation	SNP	T	TCGA-24-1555-01A-01W-0552-10		58126355	76880161	21	13635											
SYTL2	54843	hgsc.bcm.edu	37	11	85435367	85435367	+	Intron	SNP	A	A	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr11:85435367A>T	ENST00000528231.1	-	8	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Silent_p.T711T|SYTL2_ENST00000359152.5_Silent_p.T1235T|SYTL2_ENST00000354566.3_Silent_p.T711T|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.T711T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGGGGGTTACAGTTTTAATGG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	11											84	83	83					11																	85435367		2203	4299	6502	85113015	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3365T>A	11.37:g.85435367A>T			85113015	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.478	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		T	85435367	A	T	85435367	1	4	244	0	1	0	0	0	0	0	0	0	15483	175	7	5		5	SYTL2	11	85435367	Intron	SNP	A	TCGA-24-1555-01A-01W-0552-10	27309012	85435367	49571149	22	13636											
ARHGAP20	57569	hgsc.bcm.edu	37	11	110454331	110454331	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr11:110454331T>G	ENST00000260283.4	-	14	1830	c.1546A>C	c.(1546-1548)Agt>Cgt	p.S516R	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S480R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S480R|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S59R|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S490R|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S490R|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S493R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	516	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S516R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CAAAGAATACTTGGAGCGACA	0.408																																																1	Substitution - Missense(1)	ovary(1)	11											129	115	119					11																	110454331		2201	4298	6499	109959541	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1546A>C	11.37:g.110454331T>G	ENSP00000260283:p.Ser516Arg		109959541	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.779787	0.90195	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.46451	0.87;0.87;1.87;0.87;0.87;0.87;0.87	5.78	5.78	0.91487	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.045466	0.85682	D	0.000000	T	0.74473	0.3721	H	0.94771	3.58	0.52099	D	0.99994	D;D;D	0.71674	0.998;0.993;0.991	D;D;D	0.76575	0.987;0.988;0.979	T	0.82424	-0.0464	10	0.87932	D	0	.	16.4053	0.83662	0.0:0.0:0.0:1.0	.	490;516;493	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	R	516;490;59;493;480;490;480	ENSP00000260283:S516R;ENSP00000349660:S490R;ENSP00000437905:S59R;ENSP00000432076:S493R;ENSP00000436319:S480R;ENSP00000436522:S490R;ENSP00000431399:S480R	ENSP00000260283:S516R	S	-	1	0	ARHGAP20	109959541	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.196000	0.77805	2.333000	0.79357	0.482000	0.46254	AGT		0.408	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		G	110454331	T	G	110454331	3	3	244	1	0	0	0	0	1	0	0	0	870	1609	56	5	2041	5	ARHGAP20	11	110454331	Missense_Mutation	SNP	T	TCGA-24-1555-01A-01W-0552-10	25018964	110454331	24552185	23	13637											
TMPRSS5	80975	hgsc.bcm.edu	37	11	113560533	113560533	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr11:113560533T>C	ENST00000299882.5	-	12	1461	c.1313A>G	c.(1312-1314)tAc>tGc	p.Y438C	TMPRSS5_ENST00000545579.1_Missense_Mutation_p.Y429C|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.Y369C|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.Y179C|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.Y394C|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.Y325C	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	438	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y438C(1)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		TACCTTGGCGTAGACACCTGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	11											31	34	33					11																	113560533		2032	4166	6198	113065743	SO:0001583	missense	80975			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1313A>G	11.37:g.113560533T>C	ENSP00000299882:p.Tyr438Cys		113065743		Missense_Mutation	SNP	ENST00000299882.5	37	CCDS44735.1	.	.	.	.	.	.	.	.	.	.	t	15.16	2.750521	0.49257	.	.	ENSG00000166682	ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	T;T;T;T;T;T	0.69561	-0.33;-0.41;-0.41;-0.41;-0.33;-0.33	4.22	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	U	0.000022	D	0.85084	0.5616	M	0.94063	3.49	0.48571	D	0.99967	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88739	0.3242	10	0.87932	D	0	.	12.7196	0.57134	0.0:0.0:0.0:1.0	.	369;429;438	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	C	179;438;429;394;369;325	ENSP00000437761:Y179C;ENSP00000299882:Y438C;ENSP00000441104:Y429C;ENSP00000445528:Y394C;ENSP00000440783:Y369C;ENSP00000445930:Y325C	ENSP00000299882:Y438C	Y	-	2	0	TMPRSS5	113065743	1.000000	0.71417	0.846000	0.33378	0.132000	0.20833	7.628000	0.83189	1.908000	0.55244	0.392000	0.25879	TAC		0.627	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		C	113560533	T	C	113560533	3	2	244	1	0	0	0	0	1	0	0	0	16250	1638	57	4	68	4	TMPRSS5	11	113560533	Missense_Mutation	SNP	T	TCGA-24-1555-01A-01W-0552-10	3106202	113560533	21445983	24	13638											
IGSF9B	22997	hgsc.bcm.edu	37	11	133801003	133801003	+	Silent	SNP	G	G	A	rs368414739		TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr11:133801003G>A	ENST00000321016.8	-	11	1625	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	IGSF9B_ENST00000533871.2_Silent_p.H465H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	465	Ig-like 5.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.H465H(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCAGGGCACTGTGCTTGCTTC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	11						G		0,4356		0,0,2178	79	89	86		1395	4	1	11		86	1,8543		0,1,4271	no	coding-synonymous	IGSF9B	NM_014987.1		0,1,6449	AA,AG,GG		0.0117,0.0,0.0078		465/1350	133801003	1,12899	2178	4272	6450	133306213	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1395C>T	11.37:g.133801003G>A			133306213	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		A	133801003	G	A	133801003	2	1	244	1	0	0	0	0	0	0	0	1	7606	1368	48	2		2	IGSF9B	11	133801003	Silent	SNP	G	TCGA-24-1555-01A-01W-0552-10	20240470	133801003	1205513	25	13639											
TRPV4	59341	hgsc.bcm.edu	37	12	110222186	110222186	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr12:110222186T>C	ENST00000418703.2	-	14	2487	c.2393A>G	c.(2392-2394)gAc>gGc	p.D798G	TRPV4_ENST00000346520.2_Missense_Mutation_p.D738G|TRPV4_ENST00000541794.1_Missense_Mutation_p.D751G|TRPV4_ENST00000544971.1_Missense_Mutation_p.D691G|TRPV4_ENST00000392719.2_Missense_Mutation_p.D751G|TRPV4_ENST00000261740.2_Missense_Mutation_p.D798G|TRPV4_ENST00000537083.1_Missense_Mutation_p.D738G|TRPV4_ENST00000536838.1_Missense_Mutation_p.D764G	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	798					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.D798G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CTTGCCCGGGTCCTCGTTGAT	0.627																																																1	Substitution - Missense(1)	ovary(1)	12											167	142	151					12																	110222186		2203	4300	6503	108706569	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2393A>G	12.37:g.110222186T>C	ENSP00000406191:p.Asp798Gly		108706569	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382159	0.82792	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.63;-2.86;-2.65;-2.86;-2.63;-2.97	4.82	4.82	0.62117	.	0.047914	0.85682	D	0.000000	D	0.95629	0.8579	M	0.80183	2.485	0.80722	D	1	D;D;D;B;P	0.76494	0.999;0.981;0.998;0.4;0.794	D;P;D;B;B	0.73708	0.981;0.706;0.972;0.331;0.351	D	0.96017	0.9006	10	0.72032	D	0.01	-2.0635	13.3275	0.60467	0.0:0.0:0.0:1.0	.	738;798;691;751;764	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	G	798;798;751;738;691;738;751;764	ENSP00000406191:D798G;ENSP00000261740:D798G;ENSP00000376480:D751G;ENSP00000319003:D738G;ENSP00000443611:D691G;ENSP00000442738:D738G;ENSP00000442167:D751G;ENSP00000444336:D764G	ENSP00000261740:D798G	D	-	2	0	TRPV4	108706569	1.000000	0.71417	0.999000	0.59377	0.703000	0.40648	7.143000	0.77348	2.028000	0.59812	0.454000	0.30748	GAC		0.627	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		C	110222186	T	C	110222186	3	2	244	1	0	0	0	0	1	0	0	0	16598	1667	58	4	230	4	TRPV4	12	110222186	Missense_Mutation	SNP	T	TCGA-24-1555-01A-01W-0552-10		110222186	23629709	26	13640											
FLT3	2322	hgsc.bcm.edu	37	13	28589292	28589292	+	Splice_Site	SNP	A	A	C			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr13:28589292A>C	ENST00000241453.7	-	22	2835		c.e22+1		FLT3_ENST00000469894.1_5'Flank|FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTGAACTTACATTTCTTCT	0.373			"Mis, O"		"AML, ALL"																																		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Unknown(1)	ovary(1)	13											67	62	63					13																	28589292		2203	4300	6503	27487292	SO:0001630	splice_region_variant	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2753+1T>G	13.37:g.28589292A>C			27487292	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050931	0.75960	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9467	0.71039	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27487292	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.213000	0.77950	1.995000	0.58328	0.533000	0.62120	.		0.373	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		Intron	C	28589292	A	C	28589292	5	2	244	1	0	0	0	0	0	0	1	0	5942	405	14	5	238	5	FLT3	13	28589292	Splice_Site	SNP	A	TCGA-24-1555-01A-01W-0552-10		28589292	86580586	27	13641											
BRCA2	675	hgsc.bcm.edu	37	13	32936675	32936675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	T	T	-	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr13:32936675delT	ENST00000380152.3	+	17	8054	c.7821delT	c.(7819-7821)actfs	p.T2607fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.T2607fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2607					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.P2608fs*40(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTGTGACACTCCAGGTGTGG	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	1	Deletion - Frameshift(1)	ovary(1)	13											104	103	103					13																	32936675		2203	4300	6503	31834675	SO:0001589	frameshift_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7821delT	13.37:g.32936675delT	ENSP00000369497:p.Thr2607fs		31834675	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	CCDS9344.1																																																																																				0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		-	32936675	T	-	32936675	7	5	244	1	0	1	0	1	0	0	0	0	1499	1538	54	0	7883	0	BRCA2	13	32936675	Frame_Shift_Del	DEL	T	TCGA-24-1555-01A-01W-0552-10	4347383	32936675	82233203	28	13642											
KIAA0317	9870	hgsc.bcm.edu	37	14	75131548	75131548	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr14:75131548G>C	ENST00000356357.4	-	18	2699	c.2184C>G	c.(2182-2184)ttC>ttG	p.F728L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	728	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F728L(1)									CCTTTTCTCTGAAATGCCATG	0.448																																																1	Substitution - Missense(1)	ovary(1)	14											91	86	88					14																	75131548		1941	4148	6089	74201301	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2184C>G	14.37:g.75131548G>C	ENSP00000348714:p.Phe728Leu		74201301	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075324	0.76415	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.56103	0.48;0.48	5.22	4.33	0.51752	HECT (4);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.64630	1.985	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	T	0.62291	-0.6885	10	0.28530	T	0.3	.	10.3437	0.43893	0.1506:0.0:0.8494:0.0	.	728	O15033	K0317_HUMAN	L	728;567;567	ENSP00000348714:F728L;ENSP00000452101:F567L	ENSP00000348714:F728L	F	-	3	2	KIAA0317	74201301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.660000	0.61511	1.336000	0.45506	0.650000	0.86243	TTC		0.448	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		C	75131548	G	C	75131548	3	2	244	1	0	0	0	0	1	0	0	0	8167	1281	45	3	299	3	KIAA0317	14	75131548	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10		75131548	32217992	29	13643											
ADCK1	57143	hgsc.bcm.edu	37	14	78397970	78397970	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr14:78397970G>A	ENST00000238561.5	+	10	1415	c.1316G>A	c.(1315-1317)cGt>cAt	p.R439H	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.R371H	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	446	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R371H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GACCTGCTGCGTGGCATTGAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	14											87	71	76					14																	78397970		2203	4300	6503	77467723	SO:0001583	missense	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1316G>A	14.37:g.78397970G>A	ENSP00000238561:p.Arg439His		77467723	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338467	0.95783	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.76709	-1.04;0.39	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.89497	0.6732	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.83275	0.889;0.996;0.948	D	0.90990	0.4834	10	0.66056	D	0.02	-16.094	18.5888	0.91200	0.0:0.0:1.0:0.0	.	446;371;439	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	H	439;371	ENSP00000238561:R439H;ENSP00000339663:R371H	ENSP00000238561:R439H	R	+	2	0	ADCK1	77467723	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	9.647000	0.98478	2.454000	0.82982	0.549000	0.68633	CGT		0.612	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		A	78397970	G	A	78397970	3	1	244	1	0	0	0	0	1	0	0	0	288	1145	40	1	1350	1	ADCK1	14	78397970	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10	3266422	78397970	28951570	30	13644											
BDKRB1	623	hgsc.bcm.edu	37	14	96730695	96730695	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr14:96730695C>A	ENST00000216629.6	+	3	1282	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	BDKRB1_ENST00000553356.1_Missense_Mutation_p.L226M|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	226					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.L226M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CTACCACATCCTGGCCTCCCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	14											76	70	72					14																	96730695		2203	4300	6503	95800448	SO:0001583	missense	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.676C>A	14.37:g.96730695C>A	ENSP00000216629:p.Leu226Met		95800448	A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005450	0.35415	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.42513	0.97;0.97	4.92	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.262004	0.29616	U	0.011645	T	0.41949	0.1181	L	0.55213	1.73	0.09310	N	0.99999	B;P	0.46859	0.364;0.885	B;P	0.48334	0.139;0.574	T	0.19976	-1.0289	10	0.42905	T	0.14	-10.6816	8.029	0.30454	0.2099:0.6957:0.0:0.0944	.	226;226	G3V4Y2;P46663	.;BKRB1_HUMAN	M	226	ENSP00000216629:L226M;ENSP00000452064:L226M	ENSP00000216629:L226M	L	+	1	2	BDKRB1	95800448	0.001000	0.12720	1.000000	0.80357	0.478000	0.33099	0.104000	0.15313	1.043000	0.40175	-0.703000	0.03666	CTG		0.582	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			A	96730695	C	A	96730695	3	1	244	1	0	0	0	0	1	0	0	0	1392	680	24	3	678	3	BDKRB1	14	96730695	Missense_Mutation	SNP	C	TCGA-24-1555-01A-01W-0552-10	18332725	96730695	10618845	31	13645											
AK7	122481	hgsc.bcm.edu	37	14	96922785	96922785	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr14:96922785T>G	ENST00000267584.4	+	11	1244	c.1200T>G	c.(1198-1200)gaT>gaG	p.D400E		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	400	Adenylate kinase.|NMPbind. {ECO:0000250}.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.D400E(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AACTGAAGGATGTCATTTCTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	14											156	139	145					14																	96922785		2203	4300	6503	95992538	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1200T>G	14.37:g.96922785T>G	ENSP00000267584:p.Asp400Glu		95992538	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	1.884	-0.457037	0.04540	.	.	ENSG00000140057	ENST00000267584	T	0.59224	0.28	5.26	-2.99	0.05497	.	0.097325	0.64402	D	0.000001	T	0.39759	0.1090	L	0.46741	1.465	0.80722	D	1	B	0.11235	0.004	B	0.22601	0.04	T	0.07158	-1.0787	10	0.19147	T	0.46	-31.1218	4.8262	0.13417	0.2368:0.3633:0.0:0.4	.	400	Q96M32	KAD7_HUMAN	E	400	ENSP00000267584:D400E	ENSP00000267584:D400E	D	+	3	2	AK7	95992538	0.041000	0.20044	0.026000	0.17262	0.280000	0.26924	-1.304000	0.02741	-0.881000	0.03992	0.379000	0.24179	GAT		0.368	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			G	96922785	T	G	96922785	3	3	244	1	0	0	0	0	1	0	0	0	444	1461	51	5	1242	5	AK7	14	96922785	Missense_Mutation	SNP	T	TCGA-24-1555-01A-01W-0552-10	192090	96922785	10426755	32	13646											
SRRM2	23524	hgsc.bcm.edu	37	16	2815496	2815496	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr16:2815496A>T	ENST00000301740.8	+	11	5516	c.4967A>T	c.(4966-4968)gAg>gTg	p.E1656V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1656	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.E1656V(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCAGTACCGAGTCCTCTCCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	16											79	71	74					16																	2815496		2198	4300	6498	2755497	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4967A>T	16.37:g.2815496A>T	ENSP00000301740:p.Glu1656Val		2755497	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	8.240	0.806517	0.16467	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.37411	1.2	5.47	4.35	0.52113	.	0.097227	0.45361	D	0.000373	T	0.27594	0.0678	L	0.44542	1.39	0.29714	N	0.839204	B	0.24186	0.099	B	0.24155	0.051	T	0.21109	-1.0255	10	0.44086	T	0.13	-2.548	5.5484	0.17078	0.7364:0.1759:0.0877:0.0	.	1656	Q9UQ35	SRRM2_HUMAN	V	1656;1656;908	ENSP00000301740:E1656V	ENSP00000301740:E1656V	E	+	2	0	SRRM2	2755497	1.000000	0.71417	0.993000	0.49108	0.870000	0.49936	1.698000	0.37794	0.874000	0.35823	0.533000	0.62120	GAG		0.577	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2815496	A	T	2815496	3	4	244	1	0	0	0	0	1	0	0	0	15171	304	11	5	5005	5	SRRM2	16	2815496	Missense_Mutation	SNP	A	TCGA-24-1555-01A-01W-0552-10		2815496	87539257	33	13647											
KIAA0556	23247	hgsc.bcm.edu	37	16	27629814	27629814	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr16:27629814G>C	ENST00000261588.4	+	3	151	c.132G>C	c.(130-132)caG>caC	p.Q44H		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	44						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q44H(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGCTTCAGCAGAGGAACCGGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	16											74	73	73					16																	27629814		2197	4300	6497	27537315	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.132G>C	16.37:g.27629814G>C	ENSP00000261588:p.Gln44His		27537315	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466400	0.43839	.	.	ENSG00000047578	ENST00000261588	T	0.46063	0.88	4.76	3.79	0.43588	.	0.239442	0.33854	N	0.004497	T	0.47040	0.1424	L	0.29908	0.895	0.36480	D	0.867818	D	0.89917	1.0	D	0.83275	0.996	T	0.46693	-0.9173	10	0.27785	T	0.31	-2.9926	9.8685	0.41160	0.0983:0.0:0.9017:0.0	.	44	O60303	K0556_HUMAN	H	44	ENSP00000261588:Q44H	ENSP00000261588:Q44H	Q	+	3	2	KIAA0556	27537315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.735000	0.47377	2.337000	0.79520	0.484000	0.47621	CAG		0.428	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		C	27629814	G	C	27629814	3	2	244	1	0	0	0	0	1	0	0	0	8183	933	33	3	142	3	KIAA0556	16	27629814	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10	24814318	27629814	62724939	34	13648											
ABCC12	94160	hgsc.bcm.edu	37	16	48174701	48174701	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr16:48174701G>A	ENST00000311303.3	-	4	899	c.554C>T	c.(553-555)gCc>gTc	p.A185V	ABCC12_ENST00000448542.1_Missense_Mutation_p.A185V|ABCC12_ENST00000416054.1_Missense_Mutation_p.A185V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	185	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A185V(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTAGTTGATGGCCCAGGCAAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	16											99	102	101					16																	48174701		2201	4300	6501	46732202	SO:0001583	missense	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.554C>T	16.37:g.48174701G>A	ENSP00000311030:p.Ala185Val		46732202	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551979	0.45487	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.91407	-2.84;-2.84;-2.84	6.07	5.1	0.69264	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.108901	0.64402	D	0.000008	D	0.89577	0.6755	L	0.45352	1.415	0.58432	D	0.999999	P;B	0.40083	0.702;0.443	P;B	0.47573	0.55;0.223	D	0.86594	0.1862	10	0.17369	T	0.5	.	15.4468	0.75238	0.0:0.0:0.8599:0.1401	.	185;185	Q96J65-2;Q96J65	.;MRP9_HUMAN	V	185	ENSP00000311030:A185V;ENSP00000401855:A185V;ENSP00000413046:A185V	ENSP00000311030:A185V	A	-	2	0	ABCC12	46732202	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	6.621000	0.74228	1.513000	0.48852	0.655000	0.94253	GCC		0.527	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		A	48174701	G	A	48174701	3	1	244	1	0	0	0	0	1	0	0	0	52	1203	42	2	3629	2	ABCC12	16	48174701	Missense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10	20544887	48174701	42180052	35	13649											
TP53	7157	hgsc.bcm.edu	37	17	7578393	7578393	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr17:7578393A>C	ENST00000269305.4	-	5	726	c.537T>G	c.(535-537)caT>caG	p.H179Q	TP53_ENST00000413465.2_Missense_Mutation_p.H179Q|TP53_ENST00000445888.2_Missense_Mutation_p.H179Q|TP53_ENST00000455263.2_Missense_Mutation_p.H179Q|TP53_ENST00000420246.2_Missense_Mutation_p.H179Q|TP53_ENST00000359597.4_Missense_Mutation_p.H179Q|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Q(23)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86Q(2)|p.H47Q(2)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E171fs*61(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)	AGCAGCGCTCATGGTGGGGGC	0.642		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"	76	Substitution - Missense(27)|Deletion - In frame(24)|Deletion - Frameshift(14)|Whole gene deletion(8)|Substitution - coding silent(2)|Complex - deletion inframe(1)	large_intestine(18)|breast(10)|upper_aerodigestive_tract(8)|lung(7)|liver(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(5)|bone(5)|central_nervous_system(4)|stomach(2)|oesophagus(2)|pancreas(2)|endometrium(1)	17											47	47	47					17																	7578393		2203	4300	6503	7519118	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.537T>G	17.37:g.7578393A>C	ENSP00000269305:p.His179Gln		7519118	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	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252337	0.80135	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	-9.19	0.00685	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	N	0.000000	D	0.99878	0.9942	M	0.92507	3.315	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.995;1.0;0.996;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.952;0.997;0.939;1.0;0.985;0.995;0.971	D	0.99861	1.1083	10	0.87932	D	0	-15.4889	14.291	0.66278	0.2679:0.1015:0.6306:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Q;ENSP00000352610:H179Q;ENSP00000269305:H179Q;ENSP00000398846:H179Q;ENSP00000391127:H179Q;ENSP00000391478:H179Q;ENSP00000425104:H47Q;ENSP00000423862:H86Q	ENSP00000269305:H179Q	H	-	3	2	TP53	7519118	0.081000	0.21417	0.351000	0.25721	0.844000	0.47949	-0.635000	0.05471	-2.028000	0.00931	-0.376000	0.06991	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578393	A	C	7578393	3	2	244	1	0	0	0	0	1	0	0	0	16381	214	8	5	761	5	TP53	17	7578393	Missense_Mutation	SNP	A	TCGA-24-1555-01A-01W-0552-10		7578393	73616817	36	13650											
ZNF528	84436	hgsc.bcm.edu	37	19	52918628	52918628	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr19:52918628C>A	ENST00000360465.3	+	7	949	c.523C>A	c.(523-525)Caa>Aaa	p.Q175K	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	175					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.Q175K(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTACTTCCACAAGAACAGAA	0.353																																																1	Substitution - Missense(1)	ovary(1)	19											59	64	62					19																	52918628		2202	4299	6501	57610440	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.523C>A	19.37:g.52918628C>A	ENSP00000353652:p.Gln175Lys		57610440	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.447632	0.01089	.	.	ENSG00000167555	ENST00000360465	T	0.14766	2.48	1.27	1.27	0.21489	.	.	.	.	.	T	0.08044	0.0201	L	0.48877	1.53	0.09310	N	1	P	0.41450	0.75	B	0.36922	0.236	T	0.12243	-1.0555	9	0.02654	T	1	.	3.5699	0.07913	0.0:0.7468:0.0:0.2532	.	175	Q3MIS6	ZN528_HUMAN	K	175	ENSP00000353652:Q175K	ENSP00000353652:Q175K	Q	+	1	0	ZNF528	57610440	0.000000	0.05858	0.006000	0.13384	0.019000	0.09904	-0.623000	0.05546	1.002000	0.39104	0.491000	0.48974	CAA		0.353	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		A	52918628	C	A	52918628	3	1	244	1	0	0	0	0	1	0	0	0	17969	479	17	3	537	3	ZNF528	19	52918628	Missense_Mutation	SNP	C	TCGA-24-1555-01A-01W-0552-10		52918628	6210355	37	13651											
ADAM33	80332	hgsc.bcm.edu	37	20	3655433	3655433	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr20:3655433A>G	ENST00000356518.2	-	5	638	c.397T>C	c.(397-399)Tgc>Cgc	p.C133R	ADAM33_ENST00000379861.4_Missense_Mutation_p.C133R|ADAM33_ENST00000350009.2_Missense_Mutation_p.C133R|ADAM33_ENST00000466620.1_5'Flank	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	133					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C133R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ATCCCAGAGCAGGTGCAGAGG	0.632																																																1	Substitution - Missense(1)	ovary(1)	20											42	46	44					20																	3655433		2203	4300	6503	3603433	SO:0001583	missense	80332			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.397T>C	20.37:g.3655433A>G	ENSP00000348912:p.Cys133Arg		3603433	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952855	0.73787	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000444535;ENST00000439201	T;T;T	0.11277	2.79;2.79;2.79	4.74	4.74	0.60224	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.45756	0.1358	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.62656	-0.6808	9	0.87932	D	0	.	13.4883	0.61379	1.0:0.0:0.0:0.0	.	133;145;133;133;133	B4DTZ3;B4E1Y6;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;ADA33_HUMAN;.	R	133;133;133;146;133	ENSP00000348912:C133R;ENSP00000369190:C133R;ENSP00000322550:C133R	ENSP00000322550:C133R	C	-	1	0	ADAM33	3603433	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	5.909000	0.69923	2.133000	0.65898	0.533000	0.62120	TGC		0.632	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		G	3655433	A	G	3655433	3	3	244	1	0	0	0	0	1	0	0	0	250	188	7	4	2116	4	ADAM33	20	3655433	Missense_Mutation	SNP	A	TCGA-24-1555-01A-01W-0552-10		3655433	59370087	38	13652											
BACH1	571	hgsc.bcm.edu	37	21	30715062	30715062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr21:30715062G>T	ENST00000399921.1	+	5	2362	c.2119G>T	c.(2119-2121)Gag>Tag	p.E707*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.E707*	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0			R -> C (in FANCJ; associated with C-647). {ECO:0000269|PubMed:16116423}.		DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E707*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGCCACCTCTGAGCAAGCTGG	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	21											49	50	50					21																	30715062		2202	4300	6502	29636933	SO:0001587	stop_gained	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.2119G>T	21.37:g.30715062G>T	ENSP00000382805:p.Glu707*		29636933	Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	39	7.748695	0.98468	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	.	.	.	5.75	5.75	0.90469	.	0.514651	0.18144	N	0.150302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-10.7059	19.94	0.97155	0.0:0.0:1.0:0.0	.	.	.	.	X	707	.	ENSP00000286800:E707X	E	+	1	0	BACH1	29636933	0.945000	0.32115	0.146000	0.22360	0.337000	0.28794	4.225000	0.58600	2.721000	0.93114	0.650000	0.86243	GAG		0.562	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		T	30715062	G	T	30715062	4	4	244	1	0	0	0	0	0	1	0	0	1283	1291	45	3	2133	3	BACH1	21	30715062	Nonsense_Mutation	SNP	G	TCGA-24-1555-01A-01W-0552-10		30715062	17414833	39	13653											
DONSON	29980	hgsc.bcm.edu	37	21	34954294	34954294	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chr21:34954294C>A	ENST00000303071.5	-	7	1180	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	DONSON_ENST00000432378.1_Missense_Mutation_p.D372Y|DONSON_ENST00000303113.6_Missense_Mutation_p.D358Y|DONSON_ENST00000453626.1_Missense_Mutation_p.D372Y	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	372					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.D372Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TTAATTTTATCTTGCACACCC	0.373																																																1	Substitution - Missense(1)	ovary(1)	21											105	105	105					21																	34954294		2203	4300	6503	33876164	SO:0001583	missense	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1114G>T	21.37:g.34954294C>A	ENSP00000307143:p.Asp372Tyr		33876164	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.0|27.0|27.0	4.793348|4.793348|4.793348	0.90453|0.90453|0.90453	.|.|.	.|.|.	ENSG00000159147|ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378|ENST00000437395|ENST00000440810	.|.|.	.|.|.	.|.|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.81922|0.81922|0.81922	0.4925|0.4925|0.4925	M|M|M	0.80616|0.80616|0.80616	2.505|2.505|2.505	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.91635|.|.	0.994;0.999|.|.	T|T|T	0.81393|0.81393|0.81393	-0.0953|-0.0953|-0.0953	9|5|5	0.30854|.|.	T|.|.	0.27|.|.	-8.6645|-8.6645|-8.6645	19.6901|19.6901|19.6901	0.95998|0.95998|0.95998	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	358;372|.|.	F8W8A5;Q9NYP3|.|.	.;DONS_HUMAN|.|.	Y|N|I	358;372;372;372|342|143	.|.|.	ENSP00000307143:D372Y|.|.	D|K|R	-|-|-	1|3|2	0|2|0	DONSON|DONSON|DONSON	33876164|33876164|33876164	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	7.304000|7.304000|7.304000	0.78882|0.78882|0.78882	2.753000|2.753000|2.753000	0.94483|0.94483|0.94483	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	GAT|AAG|AGA		0.373	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		A	34954294	C	A	34954294	3	1	244	1	0	0	0	0	1	0	0	0	4706	913	32	3	602	3	DONSON	21	34954294	Missense_Mutation	SNP	C	TCGA-24-1555-01A-01W-0552-10	4239232	34954294	13175601	40	13654											
CYLC1	1538	hgsc.bcm.edu	37	X	83128698	83128698	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chrX:83128698A>T	ENST00000329312.4	+	4	1019	c.982A>T	c.(982-984)Aag>Tag	p.K328*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	328					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K327*(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GGATGTAAAGAAGGACACAGA	0.333																																																1	Substitution - Nonsense(1)	ovary(1)	X											47	42	44					X																	83128698		2197	4296	6493	83015354	SO:0001587	stop_gained	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.982A>T	X.37:g.83128698A>T	ENSP00000331556:p.Lys328*		83015354	A0AVQ8|Q5JQQ9	Nonsense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	36	5.647627	0.96714	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8125	8.7734	0.34747	1.0:0.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000331556:K328X	K	+	1	0	CYLC1	83015354	0.968000	0.33430	0.629000	0.29254	0.965000	0.64279	1.855000	0.39378	1.667000	0.50832	0.356000	0.21956	AAG		0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		T	83128698	A	T	83128698	4	4	244	1	0	0	0	0	0	1	0	0	4141	247	9	5	996	5	CYLC1	23	83128698	Nonsense_Mutation	SNP	A	TCGA-24-1555-01A-01W-0552-10		83128698	72141862	41	13655											
DRP2	1821	hgsc.bcm.edu	37	X	100510224	100510224	+	Silent	SNP	C	C	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chrX:100510224C>T	ENST00000395209.3	+	20	2759	c.2232C>T	c.(2230-2232)tcC>tcT	p.S744S	DRP2_ENST00000402866.1_Silent_p.S744S|DRP2_ENST00000541709.1_Silent_p.S666S|DRP2_ENST00000538510.1_Silent_p.S744S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	744					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S741S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACAGCTTGTCCCCAGATGACA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	X											162	137	146					X																	100510224		2203	4300	6503	100396880	SO:0001819	synonymous_variant	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2232C>T	X.37:g.100510224C>T			100396880	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	CCDS14480.2																																																																																				0.473	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		T	100510224	C	T	100510224	2	4	244	1	0	0	0	0	0	0	0	1	4764	610	22	2		2	DRP2	23	100510224	Silent	SNP	C	TCGA-24-1555-01A-01W-0552-10	17381526	100510224	54760336	42	13656											
ZDHHC9	51114	hgsc.bcm.edu	37	X	128957688	128957688	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chrX:128957688C>T	ENST00000357166.6	-	5	845	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	AL359542.1_ENST00000582964.1_RNA|ZDHHC9_ENST00000491039.1_5'UTR|ZDHHC9_ENST00000371064.3_Missense_Mutation_p.A152T	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	152					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.A152T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CAATGGGAGGCCCGGGGAGGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	X											114	107	110					X																	128957688		2203	4300	6503	128785369	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.454G>A	X.37:g.128957688C>T	ENSP00000349689:p.Ala152Thr		128785369	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.187655	0.78789	.	.	ENSG00000188706	ENST00000357166;ENST00000371064;ENST00000406492	T;T;T	0.24350	1.86;1.86;1.86	5.66	5.66	0.87406	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.046534	0.85682	D	0.000000	T	0.35248	0.0925	L	0.33753	1.03	0.80722	D	1	P	0.40638	0.725	P	0.51777	0.679	T	0.02232	-1.1191	10	0.35671	T	0.21	-11.368	18.3341	0.90282	0.0:1.0:0.0:0.0	.	152	Q9Y397	ZDHC9_HUMAN	T	152	ENSP00000349689:A152T;ENSP00000360103:A152T;ENSP00000383991:A152T	ENSP00000349689:A152T	A	-	1	0	ZDHHC9	128785369	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.662000	0.61525	2.369000	0.80426	0.597000	0.82753	GCC		0.498	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		T	128957688	C	T	128957688	3	4	244	1	0	0	0	0	1	0	0	0	17622	739	26	2	668	2	ZDHHC9	23	128957688	Missense_Mutation	SNP	C	TCGA-24-1555-01A-01W-0552-10	28447464	128957688	26312872	43	13657											
MAP7D3	79649	hgsc.bcm.edu	37	X	135326817	135326817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1555-01A-01W-0552-10	TCGA-24-1555-10A-01W-0552-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	935e77cb-eb3c-41a7-bb53-ee37211618ad	cbdd703d-685b-44db-9d2b-f2bad2174923	g.chrX:135326817T>A	ENST00000316077.9	-	4	611	c.391A>T	c.(391-393)Aga>Tga	p.R131*	MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.R131*|MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.R113*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	131					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R428*(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTCTGGTGTCTTTTTTCTTCT	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	X											318	296	303					X																	135326817		1912	4118	6030	135154483	SO:0001587	stop_gained	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.391A>T	X.37:g.135326817T>A	ENSP00000318086:p.Arg131*		135154483	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Nonsense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	35	5.534514	0.96460	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	.	.	.	5.02	2.51	0.30379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.6377	11.1162	0.48262	0.0:0.0:0.2901:0.7099	.	.	.	.	X	131;131;113;131	.	ENSP00000318086:R131X	R	-	1	2	MAP7D3	135154483	1.000000	0.71417	0.006000	0.13384	0.043000	0.13939	3.259000	0.51515	0.180000	0.19960	-0.545000	0.04230	AGA		0.418	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			A	135326817	T	A	135326817	4	1	244	1	0	0	0	0	0	1	0	0	9269	1617	56	5	2299	5	MAP7D3	23	135326817	Nonsense_Mutation	SNP	T	TCGA-24-1555-01A-01W-0552-10	6369129	135326817	19943743	44	13658											
MTOR	2475	hgsc.bcm.edu	37	1	11272933	11272933	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr1:11272933G>C	ENST00000361445.4	-	22	3394	c.3318C>G	c.(3316-3318)aaC>aaG	p.N1106K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1106					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.N1106K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGTCATCCAGGTTGGCGCCAA	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											108	93	98					1																	11272933		2203	4300	6503	11195520	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3318C>G	1.37:g.11272933G>C	ENSP00000354558:p.Asn1106Lys		11195520	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833110	0.50951	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64618	-0.11	5.48	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.105630	0.64402	D	0.000006	T	0.66218	0.2767	M	0.91663	3.23	0.80722	D	1	P	0.37781	0.608	B	0.34180	0.177	T	0.71477	-0.4581	10	0.72032	D	0.01	-13.4007	9.0711	0.36493	0.223:0.0:0.777:0.0	.	1106	P42345	MTOR_HUMAN	K	1106	ENSP00000354558:N1106K	ENSP00000354558:N1106K	N	-	3	2	MTOR	11195520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.613000	0.46351	1.289000	0.44618	0.655000	0.94253	AAC		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11272933	G	C	11272933	3	2	245	1	0	0	0	0	1	0	0	0	9954	1252	44	3	4479	3	MTOR	1	11272933	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10		11272933	237977688	1	13659											
MACF1	23499	hgsc.bcm.edu	37	1	39895648	39895648	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr1:39895648G>C	ENST00000372915.3	+	63	16813	c.16726G>C	c.(16726-16728)Ggg>Cgg	p.G5576R	MACF1_ENST00000564288.1_Missense_Mutation_p.G5680R|MACF1_ENST00000539005.1_Missense_Mutation_p.G3488R|MACF1_ENST00000317713.7_Missense_Mutation_p.G3618R|MACF1_ENST00000567887.1_Missense_Mutation_p.G5717R|MACF1_ENST00000545844.1_Missense_Mutation_p.G3618R|MACF1_ENST00000289893.4_Missense_Mutation_p.G4120R|MACF1_ENST00000361689.2_Missense_Mutation_p.G3618R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5576					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.G4120R(1)|p.G3618R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAACTGACCGGGTGGCTGAG	0.562																																																2	Substitution - Missense(2)	ovary(2)	1											39	39	39					1																	39895648		2203	4300	6503	39668235	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16726G>C	1.37:g.39895648G>C	ENSP00000362006:p.Gly5576Arg		39668235	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.24|15.24	2.775049|2.775049	0.49786|0.49786	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.61274|.	0.12;1.36;0.12;1.36;0.24;1.29|.	6.08|6.08	2.91|2.91	0.33838|0.33838	.|.	0.103789|.	0.42821|.	D|.	0.000646|.	T|T	0.35008|0.35008	0.0917|0.0917	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;B|.	0.76494|.	0.999;0.595;0.043|.	D;B;B|.	0.71870|.	0.975;0.234;0.038|.	T|T	0.04708|0.04708	-1.0932|-1.0932	10|5	0.25751|.	T|.	0.34|.	.|.	7.457|7.457	0.27272|0.27272	0.1596:0.0:0.7109:0.1295|0.1596:0.0:0.7109:0.1295	.|.	5576;3618;3562|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	R|P	3618;5576;3618;3618;3488;4120|2621	ENSP00000439537:G3618R;ENSP00000362006:G5576R;ENSP00000354573:G3618R;ENSP00000313438:G3618R;ENSP00000444364:G3488R;ENSP00000289893:G4120R|.	ENSP00000289893:G4120R|.	G|R	+|+	1|2	0|0	MACF1|MACF1	39668235|39668235	0.741000|0.741000	0.28217|0.28217	0.902000|0.902000	0.35471|0.35471	0.959000|0.959000	0.62525|0.62525	1.082000|1.082000	0.30803|0.30803	0.319000|0.319000	0.23209|0.23209	0.591000|0.591000	0.81541|0.81541	GGG|CGG		0.562	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		C	39895648	G	C	39895648	3	2	245	1	0	0	0	0	1	0	0	0	9144	1116	39	3	17241	3	MACF1	1	39895648	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10	28622715	39895648	209354973	2	13660											
RNF220	55182	hgsc.bcm.edu	37	1	44878361	44878361	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr1:44878361G>T	ENST00000355387.2	+	2	1042	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S	RNF220_ENST00000372247.2_Missense_Mutation_p.A198S|RNF220_ENST00000361799.2_Missense_Mutation_p.A198S			Q5VTB9	RN220_HUMAN	ring finger protein 220	198					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A198S(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TGATCGGGAAGCCTCATCTAG	0.522																																																2	Substitution - Missense(2)	ovary(2)	1											97	88	91					1																	44878361		2203	4300	6503	44650948	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.592G>T	1.37:g.44878361G>T	ENSP00000347548:p.Ala198Ser		44650948	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	2.428	-0.331581	0.05314	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	3.46	0.39613	.	0.260806	0.38058	N	0.001826	T	0.27419	0.0673	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.12156	0.007	T	0.07271	-1.0781	9	0.07813	T	0.8	.	6.258	0.20884	0.3927:0.0:0.6073:0.0	.	198	Q5VTB9	RN220_HUMAN	S	198	.	ENSP00000347548:A198S	A	+	1	0	RNF220	44650948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.653000	0.54446	1.377000	0.46286	0.655000	0.94253	GCC		0.522	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		T	44878361	G	T	44878361	3	4	245	1	0	0	0	0	1	0	0	0	13486	971	34	3	594	3	RNF220	1	44878361	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10	4982713	44878361	204372260	3	13661											
POU2F1	5451	hgsc.bcm.edu	37	1	167381426	167381426	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr1:167381426delG	ENST00000541643.3	+	15	1879	c.1717delG	c.(1717-1719)gcafs	p.A576fs	POU2F1_ENST00000367866.2_Frame_Shift_Del_p.A599fs|POU2F1_ENST00000420254.3_Frame_Shift_Del_p.A576fs|POU2F1_ENST00000367862.5_Frame_Shift_Del_p.A588fs|POU2F1_ENST00000429375.2_Frame_Shift_Del_p.A536fs|POU2F1_ENST00000367865.1_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	576					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A573fs*26(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCAAACAGCAGCAGCTGCTGC	0.577																																																1	Deletion - Frameshift(1)	ovary(1)	1											74	51	59					1																	167381426		2203	4300	6503	165648050	SO:0001589	frameshift_variant	5451			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1717delG	1.37:g.167381426delG	ENSP00000441285:p.Ala576fs		165648050	B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Frame_Shift_Del	DEL	ENST00000541643.3	37																																																																																					0.577	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		-	167381426	G	-	167381426	7	5	245	1	0	1	0	1	0	0	0	0	12271	971	34	0	1767	0	POU2F1	1	167381426	Frame_Shift_Del	DEL	G	TCGA-24-1556-01A-01W-0615-10	122503065	167381426	81869195	4	13662											
IKBKE	9641	hgsc.bcm.edu	37	1	206658352	206658352	+	Silent	SNP	A	A	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr1:206658352A>G	ENST00000367120.3	+	14	1819	c.1446A>G	c.(1444-1446)ggA>ggG	p.G482G	IKBKE_ENST00000537984.1_Silent_p.G397G	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	482	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.G482G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCGTGGCTGGAACGCCTGAGA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	1											60	55	57					1																	206658352		2203	4300	6503	204724975	SO:0001819	synonymous_variant	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1446A>G	1.37:g.206658352A>G			204724975	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																				0.592	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			G	206658352	A	G	206658352	2	3	245	1	0	0	0	0	0	0	0	1	7612	233	9	4		4	IKBKE	1	206658352	Silent	SNP	A	TCGA-24-1556-01A-01W-0615-10	39276926	206658352	42592269	5	13663											
GREB1	9687	hgsc.bcm.edu	37	2	11716494	11716494	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr2:11716494G>T	ENST00000381486.2	+	5	770	c.470G>T	c.(469-471)tGt>tTt	p.C157F	GREB1_ENST00000381483.2_Missense_Mutation_p.C157F|GREB1_ENST00000263834.5_Missense_Mutation_p.C157F|GREB1_ENST00000389825.3_Missense_Mutation_p.C47F|GREB1_ENST00000234142.5_Missense_Mutation_p.C157F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	157						integral component of membrane (GO:0016021)		p.C157F(2)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCTGGGAATTGTGTTGGCTGT	0.388																																					Ovarian(39;850 945 2785 23371 33093)											2	Substitution - Missense(2)	ovary(2)	2											144	149	147					2																	11716494		2203	4300	6503	11633945	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.470G>T	2.37:g.11716494G>T	ENSP00000370896:p.Cys157Phe		11633945	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246215	0.80024	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.79033	1.34;0.31;-1.23;0.46;1.34	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.88051	0.6333	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.997	D	0.89421	0.3710	10	0.87932	D	0	-8.5931	18.2133	0.89877	0.0:0.0:1.0:0.0	.	157;47;157;157	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	F	157;157;47;157;157	ENSP00000370896:C157F;ENSP00000263834:C157F;ENSP00000374475:C47F;ENSP00000370892:C157F;ENSP00000234142:C157F	ENSP00000234142:C157F	C	+	2	0	GREB1	11633945	1.000000	0.71417	0.960000	0.40013	0.987000	0.75469	9.478000	0.97927	2.534000	0.85438	0.655000	0.94253	TGT		0.388	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11716494	G	T	11716494	3	4	245	1	0	0	0	0	1	0	0	0	6760	1377	48	3	484	3	GREB1	2	11716494	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10		11716494	231482879	6	13664											
ARHGAP25	9938	hgsc.bcm.edu	37	2	69053236	69053236	+	Silent	SNP	C	C	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr2:69053236C>T	ENST00000295381.3	+	11	2267	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S	ARHGAP25_ENST00000409030.3_Silent_p.S609S|ARHGAP25_ENST00000409202.3_Silent_p.S617S|ARHGAP25_ENST00000479844.1_Silent_p.S310S|ARHGAP25_ENST00000467265.1_Silent_p.S577S|ARHGAP25_ENST00000409220.1_Silent_p.S610S	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	616					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S610S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGAGCGCTCCCGGGAGGATG	0.507																																																1	Substitution - coding silent(1)	ovary(1)	2											107	113	111					2																	69053236		2203	4300	6503	68906740	SO:0001819	synonymous_variant	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1848C>T	2.37:g.69053236C>T			68906740	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	C	10.29	1.308325	0.23821	.	.	ENSG00000163219	ENST00000497259	.	.	.	5.95	3.99	0.46301	.	.	.	.	.	T	0.47875	0.1469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44997	-0.9291	4	.	.	.	.	3.8139	0.08808	0.133:0.5794:0.1306:0.1571	.	.	.	.	L	476	.	.	P	+	2	0	ARHGAP25	68906740	0.935000	0.31712	1.000000	0.80357	0.999000	0.98932	0.433000	0.21477	1.527000	0.49086	0.655000	0.94253	CCC		0.507	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		T	69053236	C	T	69053236	2	4	245	1	0	0	0	0	0	0	0	1	874	610	22	2		2	ARHGAP25	2	69053236	Silent	SNP	C	TCGA-24-1556-01A-01W-0615-10	57336742	69053236	174146137	7	13665											
PMS1	5378	hgsc.bcm.edu	37	2	190708747	190708747	+	Silent	SNP	C	C	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr2:190708747C>T	ENST00000441310.2	+	6	873	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	PMS1_ENST00000432292.3_Silent_p.L38L|PMS1_ENST00000409823.3_Intron|PMS1_ENST00000418224.3_Silent_p.L38L|PMS1_ENST00000421722.1_Intron|PMS1_ENST00000447232.2_Silent_p.L214L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	214					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.L214L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CATGTCAGTTCTGGGGACTGC	0.358			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	1	Substitution - coding silent(1)	ovary(1)	2											113	105	108					2																	190708747		2203	4300	6503	190416992	SO:0001819	synonymous_variant	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.640C>T	2.37:g.190708747C>T			190416992	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	ENST00000441310.2	37	CCDS2302.1																																																																																				0.358	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			T	190708747	C	T	190708747	2	4	245	1	0	0	0	0	0	0	0	1	12142	912	32	2		2	PMS1	2	190708747	Silent	SNP	C	TCGA-24-1556-01A-01W-0615-10	121655511	190708747	52490626	8	13666											
SH3BP4	23677	hgsc.bcm.edu	37	2	235949685	235949685	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr2:235949685A>T	ENST00000409212.1	+	4	779	c.272A>T	c.(271-273)gAg>gTg	p.E91V	SH3BP4_ENST00000392011.2_Missense_Mutation_p.E91V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E91V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	91	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.E91V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCTGGCGGTGAGTGGTGGTAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											159	134	142					2																	235949685		2203	4300	6503	235614424	SO:0001583	missense	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.272A>T	2.37:g.235949685A>T	ENSP00000386862:p.Glu91Val		235614424	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.867376	0.91511	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.44	5.44	0.79542	Src homology-3 domain (4);	0.098091	0.64402	D	0.000002	T	0.69672	0.3137	M	0.87682	2.9	0.80722	D	1	D;D	0.53619	0.961;0.961	P;P	0.60068	0.868;0.868	T	0.76198	-0.3047	10	0.87932	D	0	-24.287	14.3275	0.66530	1.0:0.0:0.0:0.0	.	91;91	A8K594;Q9P0V3	.;SH3B4_HUMAN	V	91	ENSP00000375867:E91V;ENSP00000403251:E91V;ENSP00000386862:E91V;ENSP00000340237:E91V;ENSP00000415391:E91V	ENSP00000340237:E91V	E	+	2	0	SH3BP4	235614424	1.000000	0.71417	0.999000	0.59377	0.674000	0.39518	9.039000	0.93777	2.062000	0.61559	0.533000	0.62120	GAG		0.532	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			T	235949685	A	T	235949685	3	4	245	1	0	0	0	0	1	0	0	0	14249	304	11	5	278	5	SH3BP4	2	235949685	Missense_Mutation	SNP	A	TCGA-24-1556-01A-01W-0615-10	45240938	235949685	7249688	9	13667											
IL17RC	84818	hgsc.bcm.edu	37	3	9974300	9974300	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr3:9974300A>G	ENST00000295981.3	+	17	1827	c.1609A>G	c.(1609-1611)Aag>Gag	p.K537E	IL17RC_ENST00000383812.4_Missense_Mutation_p.K451E|IL17RC_ENST00000455057.1_Missense_Mutation_p.K434E|IL17RC_ENST00000416074.2_Missense_Mutation_p.K305E|IL17RC_ENST00000498214.1_3'UTR|CRELD1_ENST00000397170.3_5'Flank|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000403601.3_Missense_Mutation_p.K466E|IL17RC_ENST00000413608.1_Missense_Mutation_p.K466E|CRELD1_ENST00000452070.1_5'Flank|CRELD1_ENST00000383811.3_5'Flank	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	537					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.K537E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGACATCCACAAGCGCTGGGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	3											72	77	75					3																	9974300		2203	4300	6503	9949300	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1609A>G	3.37:g.9974300A>G	ENSP00000295981:p.Lys537Glu		9949300	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863208	0.51482	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T	0.44083	1.9;1.89;1.9;0.93;1.88	4.71	-2.5	0.06384	.	1.021750	0.07821	N	0.959858	T	0.24314	0.0589	N	0.19112	0.55	0.20821	N	0.999845	B;B;B;B;B;B;B;B;B	0.26318	0.012;0.012;0.002;0.002;0.009;0.007;0.012;0.146;0.037	B;B;B;B;B;B;B;B;B	0.24974	0.009;0.009;0.004;0.004;0.003;0.004;0.009;0.057;0.013	T	0.28459	-1.0043	10	0.18276	T	0.48	-3.3982	9.2504	0.37551	0.1747:0.6939:0.1314:0.0	.	451;305;434;449;466;305;451;537;466	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	E	451;537;466;305;434;466	ENSP00000373323:K451E;ENSP00000295981:K537E;ENSP00000384969:K466E;ENSP00000407894:K434E;ENSP00000396064:K466E	ENSP00000295981:K537E	K	+	1	0	IL17RC	9949300	0.022000	0.18835	0.990000	0.47175	0.975000	0.68041	-0.315000	0.08081	-0.028000	0.13850	0.379000	0.24179	AAG		0.542	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		G	9974300	A	G	9974300	3	3	245	1	0	0	0	0	1	0	0	0	7641	131	5	4	1675	4	IL17RC	3	9974300	Missense_Mutation	SNP	A	TCGA-24-1556-01A-01W-0615-10		9974300	188048130	10	13668											
TGFBR2	7048	hgsc.bcm.edu	37	3	30713461	30713461	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr3:30713461G>C	ENST00000295754.5	+	4	1168	c.786G>C	c.(784-786)aaG>aaC	p.K262N	TGFBR2_ENST00000359013.4_Missense_Mutation_p.K287N	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.K262N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATAAGGCCAAGCTGAAGCAGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	3											154	138	143					3																	30713461		2203	4300	6503	30688465	SO:0001583	missense	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.786G>C	3.37:g.30713461G>C	ENSP00000295754:p.Lys262Asn		30688465	B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521058	0.64747	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93811	-3.29;-3.29	5.44	2.66	0.31614	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045892	0.85682	D	0.000000	D	0.90841	0.7123	N	0.17379	0.485	0.58432	D	0.999998	P;P	0.47604	0.898;0.642	P;P	0.57548	0.823;0.673	D	0.88896	0.3349	10	0.87932	D	0	.	8.5377	0.33373	0.3764:0.0:0.6236:0.0	.	262;287	P37173;D2JYI1	TGFR2_HUMAN;.	N	262;287;128	ENSP00000295754:K262N;ENSP00000351905:K287N	ENSP00000295754:K262N	K	+	3	2	TGFBR2	30688465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.789000	0.47813	0.259000	0.21709	0.591000	0.81541	AAG		0.512	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			C	30713461	G	C	30713461	3	2	245	1	0	0	0	0	1	0	0	0	15822	962	34	3	879	3	TGFBR2	3	30713461	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10	20739161	30713461	167308969	11	13669											
EPHA3	2042	hgsc.bcm.edu	37	3	89499441	89499441	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr3:89499441T>G	ENST00000336596.2	+	15	2836	c.2611T>G	c.(2611-2613)Ttt>Gtt	p.F871V	EPHA3_ENST00000494014.1_Missense_Mutation_p.F871V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	871	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.F871V(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGACCCAAGTTTGAGCAGAT	0.512										TSP Lung(6;0.00050)																																						1	Substitution - Missense(1)	ovary(1)	3											94	83	87					3																	89499441		2203	4300	6503	89582131	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2611T>G	3.37:g.89499441T>G	ENSP00000337451:p.Phe871Val		89582131	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712175	0.89112	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.88046	-2.33;-2.33	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96343	0.9252	9	.	.	.	.	15.9043	0.79412	0.0:0.0:0.0:1.0	.	871	P29320	EPHA3_HUMAN	V	871	ENSP00000337451:F871V;ENSP00000419190:F871V	.	F	+	1	0	EPHA3	89582131	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.040000	0.89188	2.160000	0.67779	0.528000	0.53228	TTT		0.512	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		G	89499441	T	G	89499441	3	3	245	1	0	0	0	0	1	0	0	0	5168	1725	60	5	2695	5	EPHA3	3	89499441	Missense_Mutation	SNP	T	TCGA-24-1556-01A-01W-0615-10	58785980	89499441	108522989	12	13670											
NR1I2	8856	hgsc.bcm.edu	37	3	119531662	119531662	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr3:119531662G>T	ENST00000337940.4	+	5	814	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W	NR1I2_ENST00000466380.1_Missense_Mutation_p.G180W|NR1I2_ENST00000393716.2_Missense_Mutation_p.G217W	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	217	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G256W(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GCAGCTGCGGGGGGAGGATGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											78	77	78					3																	119531662		2203	4300	6503	121014352	SO:0001583	missense	8856			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.766G>T	3.37:g.119531662G>T	ENSP00000336528:p.Gly256Trp		121014352	Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805940	0.70682	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95307	-3.67;-3.67;-3.67	4.27	4.27	0.50696	Nuclear hormone receptor, ligand-binding (1);	0.142332	0.32518	N	0.005987	D	0.96093	0.8727	M	0.70595	2.14	0.44073	D	0.996825	D;D;D	0.89917	0.998;1.0;0.999	P;D;P	0.68483	0.777;0.958;0.907	D	0.95094	0.8224	10	0.38643	T	0.18	.	12.0824	0.53677	0.0:0.0:1.0:0.0	.	217;256;203	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	W	217;180;256	ENSP00000377319:G217W;ENSP00000420297:G180W;ENSP00000336528:G256W	ENSP00000336528:G256W	G	+	1	0	NR1I2	121014352	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	2.364000	0.44187	2.219000	0.72066	0.561000	0.74099	GGG		0.582	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			T	119531662	G	T	119531662	3	4	245	1	0	0	0	0	1	0	0	0	10620	1232	43	3	784	3	NR1I2	3	119531662	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10	30032221	119531662	78490768	13	13671											
WDR49	151790	hgsc.bcm.edu	37	3	167250750	167250750	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr3:167250750T>G	ENST00000308378.3	-	8	1219	c.914A>C	c.(913-915)gAa>gCa	p.E305A	WDR49_ENST00000453925.2_Missense_Mutation_p.E369A|WDR49_ENST00000476376.1_Missense_Mutation_p.E130A|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	305								p.E305A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TAGAACAATTTCTCCATCATA	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											110	95	100					3																	167250750		2203	4299	6502	168733444	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.914A>C	3.37:g.167250750T>G	ENSP00000311343:p.Glu305Ala		168733444	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.75|19.75	3.885506|3.885506	0.72410|0.72410	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.59772|.	0.24;0.24;0.24|.	5.82|5.82	5.82|5.82	0.92795|0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);|.	0.103264|.	0.64402|.	D|.	0.000004|.	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.41961|0.41961	1.31|1.31	0.31488|0.31488	N|N	0.666302|0.666302	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76071|.	0.987;0.987|.	T|T	0.56583|0.56583	-0.7955|-0.7955	10|5	0.36615|.	T|.	0.2|.	.|.	15.1777|15.1777	0.72927|0.72927	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	369;305|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	A|Q	305;130;369|381	ENSP00000311343:E305A;ENSP00000420508:E130A;ENSP00000410863:E369A|.	ENSP00000311343:E305A|.	E|K	-|-	2|1	0|0	WDR49|WDR49	168733444|168733444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	5.036000|5.036000	0.64164|0.64164	2.228000|2.228000	0.72767|0.72767	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.373	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		G	167250750	T	G	167250750	3	3	245	1	0	0	0	0	1	0	0	0	17302	1783	62	5	1211	5	WDR49	3	167250750	Missense_Mutation	SNP	T	TCGA-24-1556-01A-01W-0615-10	47719088	167250750	30771680	14	13672											
FAM193A	8603	hgsc.bcm.edu	37	4	2696853	2696853	+	Silent	SNP	C	C	A			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr4:2696853C>A	ENST00000324666.5	+	15	2751	c.2400C>A	c.(2398-2400)ggC>ggA	p.G800G	FAM193A_ENST00000545951.1_Silent_p.G800G|FAM193A_ENST00000505311.1_Silent_p.G800G|FAM193A_ENST00000382839.3_Silent_p.G800G|FAM193A_ENST00000502458.1_Silent_p.G822G	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	800								p.G800G(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTGGGCACGGCGGGGTGAGTG	0.547																																																1	Substitution - coding silent(1)	ovary(1)	4											88	64	73					4																	2696853		2203	4300	6503	2666651	SO:0001819	synonymous_variant	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2400C>A	4.37:g.2696853C>A			2666651	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	CCDS58875.1																																																																																				0.547	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		A	2696853	C	A	2696853	2	1	245	1	0	0	0	0	0	0	0	1	5524	755	27	3		3	FAM193A	4	2696853	Silent	SNP	C	TCGA-24-1556-01A-01W-0615-10		2696853	188457423	15	13673											
D4S234E	27065	hgsc.bcm.edu	37	4	4393274	4393274	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr4:4393274G>C	ENST00000421177.2	+	7	2193	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	NSG1_ENST00000505246.1_Missense_Mutation_p.E68Q|NSG1_ENST00000513555.1_Missense_Mutation_p.E68Q|NSG1_ENST00000504171.1_Intron|NSG1_ENST00000397958.1_Missense_Mutation_p.E68Q|NSG1_ENST00000433139.2_Missense_Mutation_p.E68Q|NSG1_ENST00000506380.1_Missense_Mutation_p.E68Q			P42857	NSG1_HUMAN		68					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E68Q(1)|p.E68K(1)									CCAAATTGCTGAGTTCACCGT	0.522																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	4											132	112	119					4																	4393274		2203	4300	6503	4444175	SO:0001583	missense	27065																														ENST00000421177.2:c.202G>C	4.37:g.4393274G>C	ENSP00000388823:p.Glu68Gln		4444175	B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412542	0.83340	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	L	0.58101	1.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.70935	0.971	T	0.75969	-0.3130	9	0.44086	T	0.13	-22.2244	18.2363	0.89950	0.0:0.0:1.0:0.0	.	68	P42857	NSG1_HUMAN	Q	68	.	ENSP00000381049:E68Q	E	+	1	0	AC110814.1	4444175	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	8.283000	0.89909	2.372000	0.80975	0.563000	0.77884	GAG		0.522	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			C	4393274	G	C	4393274	3	2	245	1	0	0	0	0	1	0	0	0	4214	1291	45	3	208	3	D4S234E	4	4393274	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10	1696421	4393274	186761002	16	13674											
OTUD4	54726	hgsc.bcm.edu	37	4	146092822	146092822	+	Splice_Site	SNP	C	C	A	rs565618098		TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr4:146092822C>A	ENST00000447906.2	-	3	481	c.294G>T	c.(292-294)caG>caT	p.Q98H	OTUD4_ENST00000296579.6_Splice_Site_p.Q33H|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Splice_Site_p.Q33H|OTUD4_ENST00000509620.2_Splice_Site_p.Q33H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	98	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.Q33H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGTGACATACCTGTGGATTTT	0.254																																																1	Substitution - Missense(1)	ovary(1)	4											39	44	42					4																	146092822		2197	4290	6487	146312272	SO:0001630	splice_region_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.294+1G>T	4.37:g.146092822C>A			146312272	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.472500	0.84640	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973;ENST00000509620;ENST00000296579;ENST00000504501	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.67	5.67	0.87782	Ovarian tumour, otubain (2);	0.000000	0.47852	D	0.000204	T	0.46600	0.1401	L	0.38692	1.165	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.17077	-1.0381	9	.	.	.	-11.8801	17.2679	0.87093	0.0:1.0:0.0:0.0	.	98;98	G3V0I6;Q01804	.;OTUD4_HUMAN	H	33;98;33;33;33;33	ENSP00000409279:Q33H;ENSP00000395487:Q98H;ENSP00000425972:Q33H;ENSP00000424192:Q33H;ENSP00000296579:Q33H;ENSP00000423453:Q33H	.	Q	-	3	2	OTUD4	146312272	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.597000	0.67577	2.673000	0.90976	0.557000	0.71058	CAG		0.254	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	Missense_Mutation	A	146092822	C	A	146092822	5	1	245	1	0	0	0	0	0	0	1	0	11314	695	24	3	3130	3	OTUD4	4	146092822	Splice_Site	SNP	C	TCGA-24-1556-01A-01W-0615-10	141699548	146092822	45061454	17	13675											
FAT2	2196	hgsc.bcm.edu	37	5	150923090	150923090	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr5:150923090G>C	ENST00000261800.5	-	9	7610	c.7598C>G	c.(7597-7599)cCc>cGc	p.P2533R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2533	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2533R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCCATTGGGGTTTATGGA	0.428																																																1	Substitution - Missense(1)	ovary(1)	5											146	149	148					5																	150923090		2203	4300	6503	150903283	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7598C>G	5.37:g.150923090G>C	ENSP00000261800:p.Pro2533Arg		150903283	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	3.752	-0.051317	0.07407	.	.	ENSG00000086570	ENST00000261800	T	0.53640	0.61	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.398004	0.24443	N	0.038491	T	0.36991	0.0987	L	0.39245	1.2	0.23003	N	0.998441	B	0.33198	0.401	B	0.30716	0.119	T	0.24190	-1.0167	10	0.25106	T	0.35	.	12.2297	0.54480	0.0:0.0:0.7116:0.2884	.	2533	Q9NYQ8	FAT2_HUMAN	R	2533	ENSP00000261800:P2533R	ENSP00000261800:P2533R	P	-	2	0	FAT2	150903283	0.876000	0.30132	0.984000	0.44739	0.960000	0.62799	2.692000	0.47018	2.498000	0.84270	0.462000	0.41574	CCC		0.428	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		C	150923090	G	C	150923090	3	2	245	1	0	0	0	0	1	0	0	0	5690	1232	43	3	5511	3	FAT2	5	150923090	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10		150923090	29992170	18	13676											
C6orf134	79969	hgsc.bcm.edu	37	6	30609969	30609969	+	Silent	SNP	G	G	A			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr6:30609969G>A	ENST00000376485.4	+	9	699	c.669G>A	c.(667-669)ctG>ctA	p.L223L	ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000376478.2_Silent_p.L200L|ATAT1_ENST00000318999.7_Silent_p.L200L|ATAT1_ENST00000329992.8_Silent_p.L223L|ATAT1_ENST00000330083.5_Silent_p.L211L|ATAT1_ENST00000319027.5_Silent_p.L200L|ATAT1_ENST00000376483.4_Silent_p.L223L					alpha tubulin acetyltransferase 1									p.L223L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CAAGGAAGCTGCCACCCAAGA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	6											97	85	89					6																	30609969		2203	4300	6503	30717948	SO:0001819	synonymous_variant	79969			AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"alpha-tubulin N-acetyltransferase"	615556	"chromosome 6 open reading frame 134"	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.669G>A	6.37:g.30609969G>A			30717948		Silent	SNP	ENST00000376485.4	37																																																																																					0.577	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		A	30609969	G	A	30609969	2	1	245	1	0	0	0	0	0	0	0	1	2330	1306	46	2		2	C6orf134	6	30609969	Silent	SNP	G	TCGA-24-1556-01A-01W-0615-10		30609969	140505098	19	13677											
SYNE1	23345	hgsc.bcm.edu	37	6	152697532	152697532	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr6:152697532C>A	ENST00000367255.5	-	58	9909	c.9308G>T	c.(9307-9309)aGt>aTt	p.S3103I	SYNE1_ENST00000448038.1_Missense_Mutation_p.S3110I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S3142I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S3103I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3110I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3103					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S3103I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTGAAGACTAGTTGAAAC	0.398										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											102	108	106					6																	152697532		2203	4300	6503	152739225	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9308G>T	6.37:g.152697532C>A	ENSP00000356224:p.Ser3103Ile		152739225	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.32|17.32	3.360379|3.360379	0.61403|0.61403	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.53206|.	1.38;0.63;1.38;0.63;1.38|.	5.71|5.71	4.84|4.84	0.62591|0.62591	.|.	0.075155|.	0.56097|.	D|.	0.000024|.	T|T	0.50616|0.50616	0.1626|0.1626	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.47841|.	0.712;0.901;0.712;0.883|.	B;P;B;P|.	0.50231|.	0.312;0.447;0.312;0.635|.	T|T	0.54098|0.54098	-0.8344|-0.8344	10|5	0.40728|.	T|.	0.16|.	.|.	9.2317|9.2317	0.37441|0.37441	0.0:0.7833:0.0:0.2167|0.0:0.7833:0.0:0.2167	.|.	3103;220;3103;3110|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	I|F	3103;3110;3103;3110;3142|220	ENSP00000356224:S3103I;ENSP00000396024:S3110I;ENSP00000265368:S3103I;ENSP00000390975:S3110I;ENSP00000341887:S3142I|.	ENSP00000265368:S3103I|.	S|V	-|-	2|1	0|0	SYNE1|SYNE1	152739225|152739225	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.987000|0.987000	0.75469|0.75469	2.427000|2.427000	0.44740|0.44740	1.426000|1.426000	0.47256|0.47256	0.655000|0.655000	0.94253|0.94253	AGT|GTC		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152697532	C	A	152697532	3	1	245	1	0	0	0	0	1	0	0	0	15445	565	20	3	17514	3	SYNE1	6	152697532	Missense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10	122087563	152697532	18417535	20	13678											
TNFRSF10A	8797	hgsc.bcm.edu	37	8	23049492	23049492	+	Silent	SNP	G	G	T	rs145547481		TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr8:23049492G>T	ENST00000221132.3	-	10	1186	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	RP11-1149O23.2_ENST00000518308.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	374	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)	p.I374I(1)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CAAAGGGCACGATGTTTGCAA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	8											74	62	66					8																	23049492		2203	4300	6503	23105437	SO:0001819	synonymous_variant	8797			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1122C>A	8.37:g.23049492G>T			23105437	A8K5I4|Q53Y72|Q96E62	Silent	SNP	ENST00000221132.3	37	CCDS6039.1																																																																																				0.542	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		T	23049492	G	T	23049492	2	4	245	1	0	0	0	0	0	0	0	1	16280	1048	37	3		3	TNFRSF10A	8	23049492	Silent	SNP	G	TCGA-24-1556-01A-01W-0615-10		23049492	123314530	21	13679											
PHF19	26147	hgsc.bcm.edu	37	9	123632799	123632799	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr9:123632799C>T	ENST00000373896.3	-	4	538	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PHF19_ENST00000419155.1_5'Flank|PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000312189.6_Missense_Mutation_p.E96K	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	96					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E96K(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACTTGGGCTCCTCTCCTGGA	0.577																																																1	Substitution - Missense(1)	ovary(1)	9											108	96	100					9																	123632799		2203	4300	6503	122672620	SO:0001583	missense	26147			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.286G>A	9.37:g.123632799C>T	ENSP00000363003:p.Glu96Lys		122672620	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143123	0.94560	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000436309;ENST00000312189;ENST00000456291	D;D;D;T	0.87887	-2.31;-2.31;-2.31;0.48	5.04	5.04	0.67666	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056684	0.64402	D	0.000001	D	0.90195	0.6935	L	0.60455	1.87	0.80722	D	1	P;D;B	0.65815	0.916;0.995;0.354	P;P;B	0.59424	0.486;0.857;0.292	D	0.90438	0.4429	10	0.54805	T	0.06	-25.8929	13.1516	0.59492	0.0:0.8394:0.1606:0.0	.	96;96;96	B0QZ72;Q5T6S3-2;Q5T6S3	.;.;PHF19_HUMAN	K	96	ENSP00000363003:E96K;ENSP00000408479:E96K;ENSP00000310372:E96K;ENSP00000397935:E96K	ENSP00000310372:E96K	E	-	1	0	PHF19	122672620	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.927000	0.70080	2.328000	0.79073	0.313000	0.20887	GAG		0.577	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		T	123632799	C	T	123632799	3	4	245	1	0	0	0	0	1	0	0	0	11829	864	30	2	1663	2	PHF19	9	123632799	Missense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10		123632799	17580632	22	13680											
QSOX2	169714	hgsc.bcm.edu	37	9	139113725	139113726	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr9:139113725_139113726delTT	ENST00000358701.5	-	6	774_775	c.737_738delAA	c.(736-738)aaafs	p.K246fs		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	246					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.K246fs*27(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCAGAAATGCTTTGTCCCCGTC	0.525																																																1	Deletion - Frameshift(1)	ovary(1)	9																																								138253547	SO:0001589	frameshift_variant	169714			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.737_738delAA	9.37:g.139113725_139113726delTT	ENSP00000351536:p.Lys246fs		138253546	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Frame_Shift_Del	DEL	ENST00000358701.5	37	CCDS35178.1																																																																																				0.525	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		-	139113726	TT	-	139113725	7	5	245	1	0	1	0	1	0	0	0	0	12887	1606	56	0	1386	0	QSOX2	9	139113725	Frame_Shift_Del	DEL	TT	TCGA-24-1556-01A-01W-0615-10	15480926	139113725	2099706	23	13681											
VCL	7414	hgsc.bcm.edu	37	10	75857067	75857067	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr10:75857067C>T	ENST00000211998.4	+	13	1943	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P617S	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	617	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P617S(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CACGGCGCCTCCTGATGCGCC	0.502																																																1	Substitution - Missense(1)	ovary(1)	10											94	91	92					10																	75857067		2203	4300	6503	75527073	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1849C>T	10.37:g.75857067C>T	ENSP00000211998:p.Pro617Ser		75527073	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	4.925	0.171879	0.09391	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.36520	1.25;1.25;1.25	5.29	4.37	0.52481	.	0.175329	0.48286	D	0.000183	T	0.19087	0.0458	N	0.14661	0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.07868	-1.0750	10	0.23302	T	0.38	.	8.091	0.30801	0.0:0.7788:0.0:0.2212	.	544;617;617	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	S	617;617;524;544;289	ENSP00000361841:P617S;ENSP00000211998:P617S;ENSP00000415489:P289S	ENSP00000211998:P617S	P	+	1	0	VCL	75527073	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	2.938000	0.48987	2.641000	0.89580	0.644000	0.83932	CCT		0.502	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		T	75857067	C	T	75857067	3	4	245	1	0	0	0	0	1	0	0	0	17139	855	30	2	1899	2	VCL	10	75857067	Missense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10		75857067	59677680	24	13682											
NRAP	4892	hgsc.bcm.edu	37	10	115423591	115423591	+	Silent	SNP	C	C	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr10:115423591C>T	ENST00000359988.3	-	1	295	c.51G>A	c.(49-51)gaG>gaA	p.E17E	NRAP_ENST00000369358.4_Silent_p.E17E|NRAP_ENST00000360478.3_Silent_p.E17E|NRAP_ENST00000369360.3_Silent_p.E17E	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.E17E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AGCTGATCTTCTCGGCAGGAT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	10											113	105	108					10																	115423591		2203	4300	6503	115413581	SO:0001819	synonymous_variant	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.51G>A	10.37:g.115423591C>T			115413581		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																				0.433	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		T	115423591	C	T	115423591	2	4	245	1	0	0	0	0	0	0	0	1	10638	912	32	2		2	NRAP	10	115423591	Silent	SNP	C	TCGA-24-1556-01A-01W-0615-10	39566524	115423591	20111156	25	13683											
FAM196A	642938	hgsc.bcm.edu	37	10	128974315	128974315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr10:128974315G>T	ENST00000522781.1	-	4	900	c.345C>A	c.(343-345)taC>taA	p.Y115*	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Nonsense_Mutation_p.Y115*	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	115								p.Y115*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGAACGTCTGGTAACACTTCT	0.537																																																1	Substitution - Nonsense(1)	ovary(1)	10											117	109	112					10																	128974315		2203	4300	6503	128864305	SO:0001587	stop_gained	642938				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.345C>A	10.37:g.128974315G>T	ENSP00000429763:p.Tyr115*		128864305	B2RNT4|B7ZME7	Nonsense_Mutation	SNP	ENST00000522781.1	37	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	43	9.881951	0.99286	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	.	.	.	4.84	3.92	0.45320	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2914	0.60272	0.0785:0.0:0.9215:0.0	.	.	.	.	X	115	.	ENSP00000428730:Y115X	Y	-	3	2	FAM196A	128864305	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.130000	0.42064	2.608000	0.88229	0.563000	0.77884	TAC		0.537	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		T	128974315	G	T	128974315	4	4	245	1	0	0	0	0	0	1	0	0	5528	1256	44	3	1106	3	FAM196A	10	128974315	Nonsense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10	13550724	128974315	6560432	26	13684											
COMMD9	29099	hgsc.bcm.edu	37	11	36296247	36296247	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr11:36296247G>C	ENST00000263401.5	-	6	548	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	COMMD9_ENST00000532705.1_Missense_Mutation_p.T166S|COMMD9_ENST00000533308.1_5'Flank|LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000452374.2_Missense_Mutation_p.L136V	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	178	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.L178V(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				ATGGTGTCCAGTGTTTCTTTG	0.562																																																1	Substitution - Missense(1)	ovary(1)	11											174	143	154					11																	36296247		2202	4298	6500	36252823	SO:0001583	missense	29099			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.532C>G	11.37:g.36296247G>C	ENSP00000263401:p.Leu178Val		36252823	E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	CCDS7900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.044965|2.044965	0.36085|0.36085	.|.	.|.	ENSG00000110442|ENSG00000110442	ENST00000263401;ENST00000452374|ENST00000532705	T;T|.	0.15834|.	2.39;2.39|.	5.66|5.66	4.74|4.74	0.60224|0.60224	COMM domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58935|0.58935	0.2157|0.2157	M|M	0.76574|0.76574	2.34|2.34	0.23063|0.23063	N|N	0.998355|0.998355	D;B|.	0.71674|.	0.998;0.117|.	D;B|.	0.65443|.	0.935;0.103|.	T|T	0.55283|0.55283	-0.8165|-0.8165	10|6	0.66056|0.87932	D|D	0.02|0	-15.346|-15.346	9.8588|9.8588	0.41101|0.41101	0.1477:0.0:0.8523:0.0|0.1477:0.0:0.8523:0.0	.|.	136;178|.	Q9P000-2;Q9P000|.	.;COMD9_HUMAN|.	V|S	178;136|166	ENSP00000263401:L178V;ENSP00000392510:L136V|.	ENSP00000263401:L178V|ENSP00000435599:T166S	L|T	-|-	1|2	2|0	COMMD9|COMMD9	36252823|36252823	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.967000|0.967000	0.64934|0.64934	3.026000|3.026000	0.49689|0.49689	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.562	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186		C	36296247	G	C	36296247	3	2	245	1	0	0	0	0	1	0	0	0	3723	1020	36	3	68	3	COMMD9	11	36296247	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10		36296247	98710269	27	13685											
SF1	7536	hgsc.bcm.edu	37	11	64537765	64537765	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr11:64537765C>G	ENST00000377390.3	-	4	689	c.352G>C	c.(352-354)Gca>Cca	p.A118P	SF1_ENST00000227503.9_Missense_Mutation_p.A118P|SF1_ENST00000433274.2_Missense_Mutation_p.A92P|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377394.3_Missense_Mutation_p.A118P|SF1_ENST00000334944.5_Missense_Mutation_p.A118P|SF1_ENST00000377387.1_Missense_Mutation_p.A243P|SF1_ENST00000422298.2_Missense_Mutation_p.A3P	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	118					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A118P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGATTGAGTGCAACCATCTCT	0.552																																																1	Substitution - Missense(1)	ovary(1)	11											149	143	145					11																	64537765		2201	4297	6498	64294341	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.352G>C	11.37:g.64537765C>G	ENSP00000366607:p.Ala118Pro		64294341	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911443	0.72983	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.45668	0.89;0.91;0.91;0.91;0.89;0.89;0.91	5.95	5.95	0.96441	.	0.053457	0.64402	D	0.000001	T	0.47691	0.1459	L	0.43923	1.385	0.41827	D	0.990057	D;P;P;D;D;D	0.56035	0.957;0.95;0.95;0.957;0.974;0.974	B;P;P;B;P;P	0.49999	0.402;0.475;0.475;0.424;0.628;0.628	T	0.34104	-0.9842	10	0.44086	T	0.13	.	17.8686	0.88804	0.0:1.0:0.0:0.0	.	3;118;118;118;118;243	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	P	243;118;118;118;118;3;92	ENSP00000366604:A243P;ENSP00000366607:A118P;ENSP00000227503:A118P;ENSP00000366611:A118P;ENSP00000334414:A118P;ENSP00000413084:A3P;ENSP00000396793:A92P	ENSP00000227503:A118P	A	-	1	0	SF1	64294341	1.000000	0.71417	0.966000	0.40874	0.313000	0.28021	5.566000	0.67372	2.817000	0.96982	0.563000	0.77884	GCA		0.552	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		G	64537765	C	G	64537765	3	3	245	1	0	0	0	0	1	0	0	0	14148	710	25	3	1745	3	SF1	11	64537765	Missense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10	28241518	64537765	70468751	28	13686											
MED13L	23389	hgsc.bcm.edu	37	12	116422004	116422004	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr12:116422004T>G	ENST00000281928.3	-	20	4718	c.4512A>C	c.(4510-4512)caA>caC	p.Q1504H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1504						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q1504H(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGCGGCAAACTTGCGCATAAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											84	67	72					12																	116422004		2203	4300	6503	114906387	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4512A>C	12.37:g.116422004T>G	ENSP00000281928:p.Gln1504His		114906387	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403593	0.42613	.	.	ENSG00000123066	ENST00000281928	T	0.58506	0.33	5.43	4.08	0.47627	.	0.169619	0.53938	D	0.000050	T	0.52108	0.1714	L	0.58101	1.795	0.43852	D	0.996442	B	0.32693	0.38	B	0.34180	0.177	T	0.57665	-0.7772	10	0.59425	D	0.04	.	9.1969	0.37233	0.0:0.202:0.0:0.798	.	1504	Q71F56	MD13L_HUMAN	H	1504	ENSP00000281928:Q1504H	ENSP00000281928:Q1504H	Q	-	3	2	MED13L	114906387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.075000	0.30716	2.052000	0.61016	0.533000	0.62120	CAA		0.438	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			G	116422004	T	G	116422004	3	3	245	1	0	0	0	0	1	0	0	0	9431	1606	56	5	2168	5	MED13L	12	116422004	Missense_Mutation	SNP	T	TCGA-24-1556-01A-01W-0615-10		116422004	17429891	29	13687											
VPS33A	65082	hgsc.bcm.edu	37	12	122745828	122745828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr12:122745828C>A	ENST00000267199.4	-	4	575	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	VPS33A_ENST00000451053.2_Nonsense_Mutation_p.E155*|VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Nonsense_Mutation_p.E155*	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	155					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)		p.E155*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCCTCTGATTCCATGGATAAG	0.433																																																1	Substitution - Nonsense(1)	ovary(1)	12											115	99	105					12																	122745828		2203	4300	6503	121311781	SO:0001587	stop_gained	65082			AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.463G>T	12.37:g.122745828C>A	ENSP00000267199:p.Glu155*		121311781	Q547V4|Q9H5Q0	Nonsense_Mutation	SNP	ENST00000267199.4	37	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	C	36	5.927979	0.97110	.	.	ENSG00000139719	ENST00000267199;ENST00000451053	.	.	.	5.29	5.29	0.74685	.	0.050625	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.4154	19.2838	0.94063	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000446319:E155X	E	-	1	0	VPS33A	121311781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.709000	0.84645	2.647000	0.89833	0.561000	0.74099	GAA		0.433	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			A	122745828	C	A	122745828	4	1	245	1	0	0	0	0	0	1	0	0	17201	864	30	3	1367	3	VPS33A	12	122745828	Nonsense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10	6323824	122745828	11106067	30	13688											
DDX55	57696	hgsc.bcm.edu	37	12	124090657	124090657	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr12:124090657C>G	ENST00000238146.4	+	3	247	c.197C>G	c.(196-198)cCc>cGc	p.P66R	DDX55_ENST00000538744.1_Missense_Mutation_p.P66R	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	66	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.P66L(1)|p.P66R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TTTGTCATCCCCATCCTGGAA	0.428																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	12											76	72	74					12																	124090657		2203	4300	6503	122656610	SO:0001583	missense	57696			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.197C>G	12.37:g.124090657C>G	ENSP00000238146:p.Pro66Arg		122656610	Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110539	0.94292	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	T;T	0.56941	2.49;0.43	6.17	6.17	0.99709	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84991	0.5595	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89553	0.3801	10	0.87932	D	0	-16.7259	20.8794	0.99867	0.0:1.0:0.0:0.0	.	66	Q8NHQ9	DDX55_HUMAN	R	66	ENSP00000238146:P66R;ENSP00000443114:P66R	ENSP00000238146:P66R	P	+	2	0	DDX55	122656610	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CCC		0.428	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			G	124090657	C	G	124090657	3	3	245	1	0	0	0	0	1	0	0	0	4373	623	22	3	207	3	DDX55	12	124090657	Missense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10	1344829	124090657	9761238	31	13689											
KHNYN	23351	hgsc.bcm.edu	37	14	24902054	24902054	+	Silent	SNP	C	C	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr14:24902054C>T	ENST00000251343.5	+	4	1615	c.1476C>T	c.(1474-1476)gtC>gtT	p.V492V	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Silent_p.V492V|KHNYN_ENST00000554268.1_5'UTR|KHNYN_ENST00000553935.1_Silent_p.V492V			O15037	KHNYN_HUMAN	KH and NYN domain containing	492							RNA binding (GO:0003723)	p.V492V(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ATGCCAAAGTCAGAGGTGAGT	0.507											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	14											175	152	160					14																	24902054		2203	4300	6503	23971894	SO:0001819	synonymous_variant	23351			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1476C>T	14.37:g.24902054C>T		774	23971894	Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	CCDS32058.1																																																																																				0.507	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			T	24902054	C	T	24902054	2	4	245	1	0	0	0	0	0	0	0	1	8150	813	29	2		2	KHNYN	14	24902054	Silent	SNP	C	TCGA-24-1556-01A-01W-0615-10		24902054	82447486	32	13690											
SYNE2	23224	hgsc.bcm.edu	37	14	64596541	64596541	+	Silent	SNP	C	C	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr14:64596541C>T	ENST00000344113.4	+	75	14273	c.14061C>T	c.(14059-14061)agC>agT	p.S4687S	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Silent_p.S1072S|SYNE2_ENST00000554584.1_Silent_p.S4604S|SYNE2_ENST00000555002.1_Silent_p.S1321S|SYNE2_ENST00000394768.2_Silent_p.S1072S|SYNE2_ENST00000358025.3_Silent_p.S4687S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4687					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S4687S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACGCCGAGAGCCGAGTGGCCA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	14											117	119	119					14																	64596541		2203	4300	6503	63666294	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14061C>T	14.37:g.64596541C>T			63666294	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64596541	C	T	64596541	2	4	245	1	0	0	0	0	0	0	0	1	15446	738	26	2		2	SYNE2	14	64596541	Silent	SNP	C	TCGA-24-1556-01A-01W-0615-10	39694487	64596541	42752999	33	13691											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68251956	68251956	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr14:68251956C>A	ENST00000347230.4	-	19	3481	c.3343G>T	c.(3343-3345)Gca>Tca	p.A1115S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1115S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1115				A -> T (in Ref. 3; CAH18131). {ECO:0000305}.	cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A1115S(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTCTGGGCTGCCTGCTCCACC	0.597																																																1	Substitution - Missense(1)	ovary(1)	14											42	38	40					14																	68251956		2203	4300	6503	67321709	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3343G>T	14.37:g.68251956C>A	ENSP00000251119:p.Ala1115Ser		67321709	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985862	0.53934	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.33865	1.55;1.39	5.54	0.479	0.16796	.	0.713238	0.13844	N	0.358821	T	0.28300	0.0699	L	0.46157	1.445	0.32576	N	0.52915	B;B	0.31548	0.328;0.1	B;B	0.34242	0.178;0.054	T	0.32561	-0.9902	10	0.51188	T	0.08	0.3236	4.6746	0.12706	0.139:0.5501:0.0:0.3109	.	1115;1115	G3V2D8;Q68DK2	.;ZFY26_HUMAN	S	1115;1094;1115	ENSP00000251119:A1115S;ENSP00000450603:A1115S	ENSP00000251119:A1115S	A	-	1	0	ZFYVE26	67321709	1.000000	0.71417	0.382000	0.26119	0.980000	0.70556	2.502000	0.45398	0.032000	0.15435	-0.140000	0.14226	GCA		0.597	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68251956	C	A	68251956	3	1	245	1	0	0	0	0	1	0	0	0	17668	739	26	3	4372	3	ZFYVE26	14	68251956	Missense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10	3655415	68251956	39097584	34	13692											
KIAA1409	57578	hgsc.bcm.edu	37	14	94060163	94060163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr14:94060163G>A	ENST00000393151.2	+	23	3170	c.3170G>A	c.(3169-3171)tGg>tAg	p.W1057*	UNC79_ENST00000553484.1_Nonsense_Mutation_p.W1057*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.W1057*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.W880*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1057					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W880*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGCAAAGACTGGAAGATGAGG	0.483																																																1	Substitution - Nonsense(1)	ovary(1)	14											156	136	143					14																	94060163		2203	4300	6503	93129916	SO:0001587	stop_gained	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3170G>A	14.37:g.94060163G>A	ENSP00000376858:p.Trp1057*		93129916	B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	42	9.368463	0.99150	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1738	19.978	0.97315	0.0:0.0:1.0:0.0	.	.	.	.	X	880;1057;1057;1057;1057	.	ENSP00000256339:W880X	W	+	2	0	KIAA1409	93129916	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.733000	0.93635	0.557000	0.71058	TGG		0.483	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		A	94060163	G	A	94060163	4	1	245	1	0	0	0	0	0	1	0	0	8230	1357	47	2	2717	2	KIAA1409	14	94060163	Nonsense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10	25808207	94060163	13289377	35	13693											
HMG20A	10363	hgsc.bcm.edu	37	15	77763381	77763381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr15:77763381C>T	ENST00000381714.3	+	6	1008	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	HMG20A_ENST00000336216.4_Nonsense_Mutation_p.Q194*	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	194					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q194*(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ATCTCATAGGCAAGGTATCAA	0.413																																																1	Substitution - Nonsense(1)	ovary(1)	15											117	111	113					15																	77763381		2196	4294	6490	75550436	SO:0001587	stop_gained	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.580C>T	15.37:g.77763381C>T	ENSP00000371133:p.Gln194*		75550436	A6NHY3|D3DW78|Q53G31|Q9NSF6	Nonsense_Mutation	SNP	ENST00000381714.3	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	C	38	6.958289	0.97964	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	.	.	.	5.97	5.97	0.96955	.	0.214716	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-21.3402	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	194	.	ENSP00000336856:Q194X	Q	+	1	0	HMG20A	75550436	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.001000	0.63946	2.836000	0.97738	0.655000	0.94253	CAA		0.413	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		T	77763381	C	T	77763381	4	4	245	1	0	0	0	0	0	1	0	0	7221	711	25	2	594	2	HMG20A	15	77763381	Nonsense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10		77763381	24768011	36	13694											
ADAMTSL3	57188	hgsc.bcm.edu	37	15	84651877	84651877	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr15:84651877A>T	ENST00000286744.5	+	21	3721	c.3497A>T	c.(3496-3498)aAc>aTc	p.N1166I	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.N1166I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1166						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1166I(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATGCAAAAAACTCAGGCAAG	0.493																																																1	Substitution - Missense(1)	ovary(1)	15											55	55	55					15																	84651877		2203	4300	6503	82442881	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3497A>T	15.37:g.84651877A>T	ENSP00000286744:p.Asn1166Ile		82442881	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326602	0.41197	.	.	ENSG00000156218	ENST00000286744	T	0.65178	-0.14	5.23	-4.81	0.03180	.	1.563420	0.04093	N	0.311698	T	0.53997	0.1831	L	0.54323	1.7	0.09310	N	1	B;B	0.28128	0.008;0.201	B;B	0.26969	0.015;0.075	T	0.45116	-0.9283	10	0.38643	T	0.18	.	8.9239	0.35628	0.2653:0.4686:0.2662:0.0	.	1166;1166	P82987-2;P82987	.;ATL3_HUMAN	I	1166	ENSP00000286744:N1166I	ENSP00000286744:N1166I	N	+	2	0	ADAMTSL3	82442881	0.000000	0.05858	0.000000	0.03702	0.580000	0.36256	0.397000	0.20883	-1.021000	0.03350	-0.472000	0.04984	AAC		0.493	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		T	84651877	A	T	84651877	3	4	245	1	0	0	0	0	1	0	0	0	276	43	2	5	3575	5	ADAMTSL3	15	84651877	Missense_Mutation	SNP	A	TCGA-24-1556-01A-01W-0615-10	6888496	84651877	17879515	37	13695											
ATF7IP2	80063	hgsc.bcm.edu	37	16	10525013	10525013	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr16:10525013A>G	ENST00000396560.2	+	3	763	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.Q179R|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.Q179R|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.Q179R	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q179R(1)		large_intestine(3)	3						GGTGTTGTTCAGATGCCAGAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	16											112	105	107					16																	10525013		2197	4300	6497	10432514	SO:0001583	missense	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.536A>G	16.37:g.10525013A>G	ENSP00000379808:p.Gln179Arg		10432514	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089500	0.36855	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.35	3.1	0.35709	.	0.751704	0.11359	N	0.572150	T	0.29524	0.0736	L	0.44542	1.39	0.09310	N	1	B;B	0.33044	0.395;0.395	B;B	0.26310	0.068;0.068	T	0.16808	-1.0390	10	0.36615	T	0.2	-2.7129	4.9445	0.13982	0.7169:0.1888:0.0943:0.0	.	179;179	Q5U623-2;Q5U623	.;MCAF2_HUMAN	R	179	ENSP00000379807:Q179R;ENSP00000379808:Q179R;ENSP00000440791:Q179R;ENSP00000348799:Q179R;ENSP00000322811:Q179R	ENSP00000322811:Q179R	Q	+	2	0	ATF7IP2	10432514	0.030000	0.19436	0.182000	0.23118	0.349000	0.29174	2.178000	0.42519	0.855000	0.35359	0.260000	0.18958	CAG		0.428	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		G	10525013	A	G	10525013	3	3	245	1	0	0	0	0	1	0	0	0	1088	188	7	4	538	4	ATF7IP2	16	10525013	Missense_Mutation	SNP	A	TCGA-24-1556-01A-01W-0615-10		10525013	79829740	38	13696											
TUFM	25970	hgsc.bcm.edu	37	16	28856084	28856084	+	5'Flank	SNP	T	T	G	rs372069941		TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr16:28856084T>G	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Missense_Mutation_p.T207P|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.T207P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCAAACTCGGTGAGCAGCTCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	16						T	PRO/THR	0,4394		0,0,2197	111	104	107		619	5.8	1	16		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUFM	NM_003321.4	38	0,1,6496	GG,GT,TT		0.0116,0.0,0.0077	possibly-damaging	207/456	28856084	1,12993	2197	4300	6497	28763585	SO:0001631	upstream_gene_variant	7284			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28856084T>G	Exception_encountered		28763585	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030383	0.54790	0.0	1.16E-4	ENSG00000178952	ENST00000313511	T	0.71222	-0.55	5.81	5.81	0.92471	Protein synthesis factor, GTP-binding (1);	0.090601	0.85682	D	0.000000	T	0.81517	0.4839	M	0.87617	2.895	0.58432	D	0.999996	P	0.45283	0.855	P	0.50049	0.629	D	0.85001	0.0900	10	0.87932	D	0	-39.0183	15.1391	0.72595	0.0:0.0:0.0:1.0	.	204	P49411	EFTU_HUMAN	P	207	ENSP00000322439:T207P	ENSP00000322439:T207P	T	-	1	0	TUFM	28763585	1.000000	0.71417	0.991000	0.47740	0.869000	0.49853	4.069000	0.57541	2.214000	0.71695	0.459000	0.35465	ACC		0.587	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		G	28856084	T	G	28856084	1	3	245	0	1	0	0	0	0	0	0	0	16771	1696	59	5		5	TUFM	16	28856084	5'Flank	SNP	T	TCGA-24-1556-01A-01W-0615-10	18331071	28856084	61498669	39	13697											
SLC6A2	6530	hgsc.bcm.edu	37	16	55706077	55706077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr16:55706077G>T	ENST00000379906.2	+	3	889	c.634G>T	c.(634-636)Gag>Tag	p.E212*	SLC6A2_ENST00000561820.1_Nonsense_Mutation_p.E212*|SLC6A2_ENST00000568943.1_Nonsense_Mutation_p.E212*|SLC6A2_ENST00000566163.1_Nonsense_Mutation_p.E212*|SLC6A2_ENST00000219833.8_Nonsense_Mutation_p.E212*|SLC6A2_ENST00000414754.3_Nonsense_Mutation_p.E212*|SLC6A2_ENST00000567238.1_Nonsense_Mutation_p.E107*	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	212					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.E212*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCCGGCAGCCGAGTTTTATGA	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	16											67	64	65					16																	55706077		2198	4300	6498	54263578	SO:0001587	stop_gained	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.634G>T	16.37:g.55706077G>T	ENSP00000369237:p.Glu212*		54263578	B2R707|B4DX48|Q96KH8	Nonsense_Mutation	SNP	ENST00000379906.2	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	37	6.633143	0.97722	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	.	.	.	X	212	.	ENSP00000219833:E212X	E	+	1	0	SLC6A2	54263578	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	GAG		0.547	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			T	55706077	G	T	55706077	4	4	245	1	0	0	0	0	0	1	0	0	14686	1059	37	3	735	3	SLC6A2	16	55706077	Nonsense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10	26849993	55706077	34648676	40	13698											
TP53	7157	hgsc.bcm.edu	37	17	7576927	7576927	+	Splice_Site	SNP	C	C	T	rs587781702		TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr17:7576927C>T	ENST00000269305.4	-	9	1109		c.e9-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron	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						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.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TTGGGCAGTGCTAGGAAAGAG	0.493		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"	30	Unknown(20)|Whole gene deletion(8)|Deletion - Frameshift(2)	upper_aerodigestive_tract(7)|ovary(5)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|liver(2)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(1)	17											138	124	129					17																	7576927		2203	4300	6503	7517652	SO:0001630	splice_region_variant	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.920-1G>A	17.37:g.7576927C>T			7517652	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168861	0.21621	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0356	0.58870	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517652	0.043000	0.20138	0.996000	0.52242	0.305000	0.27757	0.852000	0.27764	2.462000	0.83206	0.561000	0.74099	.		0.493	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7576927	C	T	7576927	5	4	245	1	0	0	0	0	0	0	1	0	16381	811	28	2	363	2	TP53	17	7576927	Splice_Site	SNP	C	TCGA-24-1556-01A-01W-0615-10		7576927	73618283	41	13699											
MYH1	4619	hgsc.bcm.edu	37	17	10411826	10411826	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr17:10411826T>A	ENST00000226207.5	-	16	1845	c.1751A>T	c.(1750-1752)cAc>cTc	p.H584L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	584	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.H584L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCAGCATAGTGAATCAAAGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											111	110	110					17																	10411826		2203	4300	6503	10352551	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1751A>T	17.37:g.10411826T>A	ENSP00000226207:p.His584Leu		10352551	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.491568	0.64074	.	.	ENSG00000109061	ENST00000226207	D	0.97089	-4.24	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.000000	0.45606	U	0.000344	D	0.99193	0.9720	H	0.99764	4.76	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	D	0.98465	1.0598	10	0.87932	D	0	.	14.6813	0.69020	0.0:0.0:0.0:1.0	.	584	P12882	MYH1_HUMAN	L	584	ENSP00000226207:H584L	ENSP00000226207:H584L	H	-	2	0	MYH1	10352551	1.000000	0.71417	0.993000	0.49108	0.234000	0.25298	5.848000	0.69458	2.125000	0.65367	0.528000	0.53228	CAC		0.498	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10411826	T	A	10411826	3	1	245	1	0	0	0	0	1	0	0	0	10029	1696	59	5	4168	5	MYH1	17	10411826	Missense_Mutation	SNP	T	TCGA-24-1556-01A-01W-0615-10	2834899	10411826	70783384	42	13700											
EPB41L3	23136	hgsc.bcm.edu	37	18	5416037	5416037	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr18:5416037A>T	ENST00000341928.2	-	13	2187	c.1847T>A	c.(1846-1848)cTc>cAc	p.L616H	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.L616H|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	616	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L616H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGGGGCAGGAGGTTGGTTTC	0.532																																																1	Substitution - Missense(1)	ovary(1)	18											174	133	147					18																	5416037		2203	4300	6503	5406037	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1847T>A	18.37:g.5416037A>T	ENSP00000343158:p.Leu616His		5406037	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453896	0.84209	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.84873	-1.91;-1.91	5.74	5.74	0.90152	.	0.207759	0.42294	D	0.000729	D	0.87309	0.6145	L	0.51422	1.61	0.80722	D	1	D	0.61697	0.99	P	0.52710	0.707	D	0.88598	0.3148	10	0.72032	D	0.01	.	16.0469	0.80725	1.0:0.0:0.0:0.0	.	616	Q9Y2J2	E41L3_HUMAN	H	616	ENSP00000343158:L616H;ENSP00000341138:L616H	ENSP00000343158:L616H	L	-	2	0	EPB41L3	5406037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.169000	0.94788	2.194000	0.70268	0.460000	0.39030	CTC		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		T	5416037	A	T	5416037	3	4	245	1	0	0	0	0	1	0	0	0	5154	304	11	5	1456	5	EPB41L3	18	5416037	Missense_Mutation	SNP	A	TCGA-24-1556-01A-01W-0615-10		5416037	72661211	43	13701											
VAV1	7409	hgsc.bcm.edu	37	19	6828827	6828827	+	Splice_Site	SNP	A	A	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr19:6828827A>G	ENST00000602142.1	+	13	1263	c.1181A>G	c.(1180-1182)gAc>gGc	p.D394G	VAV1_ENST00000596764.1_Splice_Site_p.D362G|VAV1_ENST00000539284.1_Splice_Site_p.D297G|VAV1_ENST00000304076.2_Splice_Site_p.D394G|VAV1_ENST00000599806.1_Splice_Site_p.D339G	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	394					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D394G(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ACTGCATAGGACCAGTCTCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											59	52	54					19																	6828827		2203	4300	6503	6779827	SO:0001630	splice_region_variant	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1180-1A>G	19.37:g.6828827A>G			6779827	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359677	0.41801	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.87966	-2.32;-2.32	5.25	4.15	0.48705	Pleckstrin homology-type (1);	0.266705	0.34386	N	0.004007	T	0.72078	0.3416	N	0.14661	0.345	0.35904	D	0.830576	B;B;B;B	0.12013	0.005;0.0;0.002;0.002	B;B;B;B	0.18263	0.021;0.0;0.01;0.01	T	0.66638	-0.5873	10	0.05620	T	0.96	.	10.3116	0.43712	0.7484:0.2516:0.0:0.0	.	297;394;339;394	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	G	394;297	ENSP00000302269:D394G;ENSP00000443242:D297G	ENSP00000302269:D394G	D	+	2	0	VAV1	6779827	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.980000	0.40618	2.006000	0.58801	0.477000	0.44152	GAC		0.622	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		Missense_Mutation	G	6828827	A	G	6828827	5	3	245	1	0	0	0	0	0	0	1	0	17131	289	10	4	1231	4	VAV1	19	6828827	Splice_Site	SNP	A	TCGA-24-1556-01A-01W-0615-10		6828827	52300156	44	13702											
SIN3B	23309	hgsc.bcm.edu	37	19	16952586	16952586	+	Missense_Mutation	SNP	C	C	T	rs141227814		TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr19:16952586C>T	ENST00000248054.5	+	4	410	c.389C>T	c.(388-390)tCg>tTg	p.S130L	SIN3B_ENST00000379803.1_Missense_Mutation_p.S130L|CTD-2538G9.5_ENST00000600987.1_RNA|SIN3B_ENST00000596802.1_Missense_Mutation_p.S130L					SIN3 transcription regulator family member B									p.S130L(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAGGAGAATTCGCACAACCAC	0.547																																																1	Substitution - Missense(1)	ovary(1)	19						C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	83	78	80		389	3.3	0	19	dbSNP_134	80	0,8600		0,0,4300	yes	missense	SIN3B	NM_015260.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	130/1163	16952586	1,13005	2203	4300	6503	16813586	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.389C>T	19.37:g.16952586C>T	ENSP00000248054:p.Ser130Leu		16813586		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	C	11.93	1.785574	0.31593	2.27E-4	0.0	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.48836	0.8;0.83	5.41	3.29	0.37713	.	0.575072	0.18584	N	0.136946	T	0.37839	0.1018	L	0.58101	1.795	0.09310	N	0.999997	P;B;B	0.35982	0.531;0.027;0.281	B;B;B	0.24701	0.055;0.005;0.014	T	0.24584	-1.0156	10	0.51188	T	0.08	-33.228	9.0245	0.36220	0.0:0.8317:0.0:0.1683	.	130;130;130	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	L	130	ENSP00000369131:S130L;ENSP00000248054:S130L	ENSP00000248054:S130L	S	+	2	0	SIN3B	16813586	0.005000	0.15991	0.001000	0.08648	0.352000	0.29268	1.675000	0.37555	0.658000	0.30925	0.557000	0.71058	TCG		0.547	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		T	16952586	C	T	16952586	3	4	245	1	0	0	0	0	1	0	0	0	14329	893	31	1	403	1	SIN3B	19	16952586	Missense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10	10123759	16952586	42176397	45	13703											
ANGPT4	51378	hgsc.bcm.edu	37	20	896772	896772	+	Missense_Mutation	SNP	G	G	A	rs369053720		TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr20:896772G>A	ENST00000381922.3	-	1	188	c.86C>T	c.(85-87)gCg>gTg	p.A29V	ANGPT4_ENST00000546022.1_Missense_Mutation_p.A29V	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	29					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.A29V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCCCCTATCCGCCTCCTGCCT	0.602																																					Pancreas(181;481 2077 3259 31286 49856)											1	Substitution - Missense(1)	ovary(1)	20						G	VAL/ALA	1,4405		0,1,2202	74	71	72		86	0	0	20		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANGPT4	NM_015985.2	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	29/504	896772	2,13004	2203	4300	6503	844772	SO:0001583	missense	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.86C>T	20.37:g.896772G>A	ENSP00000371347:p.Ala29Val		844772	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	G	3.347	-0.133344	0.06711	2.27E-4	1.16E-4	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.52295	0.67;1.49	4.57	0.0345	0.14184	.	1.272720	0.05785	N	0.609337	T	0.33089	0.0851	L	0.44542	1.39	0.09310	N	1	B;B	0.34061	0.436;0.436	B;B	0.24701	0.03;0.055	T	0.18461	-1.0336	10	0.30854	T	0.27	.	3.9973	0.09564	0.3198:0.1937:0.4865:0.0	.	29;29	B4E3J9;Q9Y264	.;ANGP4_HUMAN	V	29	ENSP00000371347:A29V;ENSP00000439605:A29V	ENSP00000371347:A29V	A	-	2	0	ANGPT4	844772	0.000000	0.05858	0.027000	0.17364	0.013000	0.08279	0.348000	0.20031	0.176000	0.19873	0.305000	0.20034	GCG		0.602	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		A	896772	G	A	896772	3	1	245	1	0	0	0	0	1	0	0	0	612	1087	38	1	1461	1	ANGPT4	20	896772	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10		896772	62128748	46	13704											
C20orf70	140683	hgsc.bcm.edu	37	20	31760767	31760767	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr20:31760767G>C	ENST00000253362.2	+	3	333	c.187G>C	c.(187-189)Gga>Cga	p.G63R	BPIFA2_ENST00000354932.5_Missense_Mutation_p.G63R			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	63						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)	p.G63R(1)									GGTCGACCTAGGAGTGCTTCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	20											93	85	88					20																	31760767		2203	4299	6502	31224428	SO:0001583	missense	140683			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.187G>C	20.37:g.31760767G>C	ENSP00000253362:p.Gly63Arg		31224428	Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.066660	0.01934	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.05139	3.49;3.49	3.87	-7.74	0.01241	.	2.270050	0.01823	N	0.034193	T	0.02888	0.0086	N	0.19112	0.55	0.09310	N	1	P	0.35411	0.5	B	0.33121	0.158	T	0.38672	-0.9650	10	0.12430	T	0.62	-17.6039	0.949	0.01372	0.4244:0.2134:0.147:0.2152	.	63	Q96DR5	BPIA2_HUMAN	R	63	ENSP00000253362:G63R;ENSP00000347012:G63R	ENSP00000253362:G63R	G	+	1	0	BPIFA2	31224428	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.698000	0.01908	-2.323000	0.00639	-0.367000	0.07326	GGA		0.488	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		C	31760767	G	C	31760767	3	2	245	1	0	0	0	0	1	0	0	0	2116	1001	35	3	193	3	C20orf70	20	31760767	Missense_Mutation	SNP	G	TCGA-24-1556-01A-01W-0615-10	30863995	31760767	31264753	47	13705											
GSS	2937	hgsc.bcm.edu	37	20	33524780	33524780	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr20:33524780C>G	ENST00000216951.2	-	7	753	c.655G>C	c.(655-657)Gac>Cac	p.D219H	GSS_ENST00000451957.2_Missense_Mutation_p.D108H|GSS_ENST00000541098.1_Missense_Mutation_p.D91H	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	219			D -> A (in GSS deficiency).|D -> G (in GSS deficiency; dbSNP:rs28938472). {ECO:0000269|PubMed:8896573}.		aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.D219H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCACGCTGGTCAAATATGTTT	0.498																																																1	Substitution - Missense(1)	ovary(1)	20											154	137	143					20																	33524780		2203	4300	6503	32988441	SO:0001583	missense	2937				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.655G>C	20.37:g.33524780C>G	ENSP00000216951:p.Asp219His		32988441	B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112932	0.94339	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.94793	-3.52;-3.52;-3.52	5.9	5.9	0.94986	PreATP-grasp-like fold (1);Glutathione synthase, substrate-binding, eukaryotic (2);	0.168662	0.64402	D	0.000006	D	0.98372	0.9459	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98962	1.0798	10	0.87932	D	0	-25.3403	19.8768	0.96875	0.0:1.0:0.0:0.0	.	108;219	B6F210;P48637	.;GSHB_HUMAN	H	219;91;108	ENSP00000216951:D219H;ENSP00000439744:D91H;ENSP00000407517:D108H	ENSP00000216951:D219H	D	-	1	0	GSS	32988441	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.110000	0.77069	2.786000	0.95864	0.561000	0.74099	GAC		0.498	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			G	33524780	C	G	33524780	3	3	245	1	0	0	0	0	1	0	0	0	6829	826	29	3	797	3	GSS	20	33524780	Missense_Mutation	SNP	C	TCGA-24-1556-01A-01W-0615-10	1764013	33524780	29500740	48	13706											
CHD6	84181	hgsc.bcm.edu	37	20	40042021	40042021	+	Silent	SNP	C	C	G			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chr20:40042021C>G	ENST00000373233.3	-	35	7251	c.7074G>C	c.(7072-7074)ctG>ctC	p.L2358L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2358					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.L2358L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCAGTCAAGCAGACTCTTGC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	20											67	64	65					20																	40042021		2203	4300	6503	39475435	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7074G>C	20.37:g.40042021C>G			39475435	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.572	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			G	40042021	C	G	40042021	2	3	245	1	0	0	0	0	0	0	0	1	3329	697	25	3		3	CHD6	20	40042021	Silent	SNP	C	TCGA-24-1556-01A-01W-0615-10	6517241	40042021	22983499	49	13707											
PRRG3	79057	hgsc.bcm.edu	37	X	150869329	150869329	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1556-01A-01W-0615-10	TCGA-24-1556-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e0e27494-cc95-4757-9aaa-de8f12681574	1a200b37-077d-4202-b49d-950903b687cb	g.chrX:150869329A>T	ENST00000370353.3	+	4	910	c.520A>T	c.(520-522)Acc>Tcc	p.T174S	PRRG3_ENST00000538575.1_Missense_Mutation_p.T174S			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	174						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.T174S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCTAGAGAGCACCCTCTACCT	0.667																																																1	Substitution - Missense(1)	ovary(1)	X											48	37	41					X																	150869329		2202	4299	6501	150619985	SO:0001583	missense	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.520A>T	X.37:g.150869329A>T	ENSP00000359378:p.Thr174Ser		150619985	A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	A	8.864	0.947598	0.18356	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98135	-4.74;-4.74	4.31	3.04	0.35103	.	0.457400	0.19232	N	0.119391	D	0.89469	0.6724	N	0.02539	-0.55	0.27244	N	0.959071	B	0.11235	0.004	B	0.15052	0.012	T	0.81758	-0.0786	9	.	.	.	-25.4068	7.538	0.27721	0.8066:0.0:0.0:0.1934	.	174	Q9BZD7	TMG3_HUMAN	S	174	ENSP00000440217:T174S;ENSP00000359378:T174S	.	T	+	1	0	PRRG3	150619985	1.000000	0.71417	0.996000	0.52242	0.319000	0.28217	2.759000	0.47573	1.715000	0.51383	0.425000	0.28330	ACC		0.667	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		T	150869329	A	T	150869329	3	4	245	1	0	0	0	0	1	0	0	0	12610	159	6	5	530	5	PRRG3	23	150869329	Missense_Mutation	SNP	A	TCGA-24-1556-01A-01W-0615-10		150869329	4401231	50	13708											
RAB3B	5865	hgsc.bcm.edu	37	1	52442627	52442627	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr1:52442627C>G	ENST00000371655.3	-	2	375	c.163G>C	c.(163-165)Gtg>Ctg	p.V55L		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	55					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.V55L(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TCGATGCCCACGGTGCTAACG	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											165	123	137					1																	52442627		2203	4300	6503	52215215	SO:0001583	missense	5865			BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"RAB, member RAS oncogene"	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.163G>C	1.37:g.52442627C>G	ENSP00000360718:p.Val55Leu		52215215	Q5VUL2|Q9BSI1	Missense_Mutation	SNP	ENST00000371655.3	37	CCDS560.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434682	0.96150	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	T	0.79033	-1.23	5.49	5.49	0.81192	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	N	0.25094	0.71	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.84292	0.0500	10	0.87932	D	0	-17.6145	19.5755	0.95441	0.0:1.0:0.0:0.0	.	55	P20337	RAB3B_HUMAN	L	55	ENSP00000360718:V55L	ENSP00000360718:V55L	V	-	1	0	RAB3B	52215215	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.538000	0.82048	2.865000	0.98341	0.655000	0.94253	GTG		0.522	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1	NM_002867		G	52442627	C	G	52442627	3	3	246	1	0	0	0	0	1	0	0	0	12935	536	19	3	512	3	RAB3B	1	52442627	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10		52442627	196807994	1	13709											
LEPR	3953	hgsc.bcm.edu	37	1	66102662	66102662	+	Missense_Mutation	SNP	G	G	C	rs377057835		TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr1:66102662G>C	ENST00000349533.6	+	20	3647	c.3462G>C	c.(3460-3462)aaG>aaC	p.K1154N	LEPR_ENST00000406510.3_Missense_Mutation_p.K221N	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.K1154N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGACTCATAAGATCATGGAAA	0.318																																																1	Substitution - Missense(1)	ovary(1)	1						G	ASN/LYS	0,4406		0,0,2203	61	62	62		3462	3	1	1		62	1,8599		0,1,4299	no	missense	LEPR	NM_002303.5	94	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging	1154/1166	66102662	1,13005	2203	4300	6503	65875250	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3462G>C	1.37:g.66102662G>C	ENSP00000330393:p.Lys1154Asn		65875250	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367265	0.61513	0.0	1.16E-4	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.58060	0.36	5.93	3.0	0.34707	.	0.331020	0.33895	N	0.004452	T	0.32556	0.0833	M	0.65975	2.015	0.32174	N	0.581311	P	0.46064	0.872	B	0.39660	0.306	T	0.18116	-1.0347	10	0.49607	T	0.09	-11.8094	10.4791	0.44682	0.2203:0.0:0.7797:0.0	.	1154	P48357	LEPR_HUMAN	N	1154;221	ENSP00000330393:K1154N	ENSP00000330393:K1154N	K	+	3	2	LEPR	65875250	0.943000	0.32029	0.999000	0.59377	0.986000	0.74619	0.361000	0.20267	0.814000	0.34374	0.585000	0.79938	AAG		0.318	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		C	66102662	G	C	66102662	3	2	246	1	0	0	0	0	1	0	0	0	8728	933	33	3	3762	3	LEPR	1	66102662	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10	13660035	66102662	183147959	2	13710											
PTGFRN	5738	hgsc.bcm.edu	37	1	117509940	117509940	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr1:117509940T>C	ENST00000393203.2	+	6	2194	c.2047T>C	c.(2047-2049)Ttc>Ctc	p.F683L	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	683					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.F683L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGAGATAGACTTCCAAACCTC	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											44	45	45					1																	117509940		2203	4299	6502	117311463	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2047T>C	1.37:g.117509940T>C	ENSP00000376899:p.Phe683Leu		117311463	Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368478	0.61513	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.02656	4.21	5.56	5.56	0.83823	.	0.048608	0.85682	D	0.000000	T	0.01092	0.0036	N	0.19112	0.55	0.58432	D	0.999998	P	0.39940	0.696	B	0.33750	0.169	T	0.65121	-0.6245	10	0.49607	T	0.09	-34.8724	13.9585	0.64164	0.0:0.0:0.0:1.0	.	683	Q9P2B2	FPRP_HUMAN	L	683;542	ENSP00000376899:F683L	ENSP00000376899:F683L	F	+	1	0	PTGFRN	117311463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.792000	0.69052	2.249000	0.74217	0.528000	0.53228	TTC		0.512	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		C	117509940	T	C	117509940	3	2	246	1	0	0	0	0	1	0	0	0	12753	1609	56	4	2069	4	PTGFRN	1	117509940	Missense_Mutation	SNP	T	TCGA-24-1557-01A-01W-0615-10	51407278	117509940	131740681	3	13711											
IPO9	55705	hgsc.bcm.edu	37	1	201840382	201840382	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr1:201840382G>A	ENST00000361565.4	+	19	2572	c.2503G>A	c.(2503-2505)Gct>Act	p.A835T		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	835					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.A835T(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGGCAAACCTGCTCTAGAGTT	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											103	93	96					1																	201840382		2203	4300	6503	200107005	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2503G>A	1.37:g.201840382G>A	ENSP00000354742:p.Ala835Thr		200107005	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481805	0.96307	.	.	ENSG00000198700	ENST00000361565	T	0.67345	-0.26	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81495	-0.0907	10	0.40728	T	0.16	-9.261	16.4294	0.83835	0.0:0.0:1.0:0.0	.	835	Q96P70	IPO9_HUMAN	T	835	ENSP00000354742:A835T	ENSP00000354742:A835T	A	+	1	0	IPO9	200107005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.363000	0.97131	2.467000	0.83353	0.655000	0.94253	GCT		0.512	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		A	201840382	G	A	201840382	3	1	246	1	0	0	0	0	1	0	0	0	7799	1319	46	2	2577	2	IPO9	1	201840382	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10	84330442	201840382	47410239	4	13712											
MARK1	4139	hgsc.bcm.edu	37	1	220808727	220808727	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr1:220808727G>A	ENST00000366917.4	+	12	1398	c.1132G>A	c.(1132-1134)Ggt>Agt	p.G378S	MARK1_ENST00000402574.1_Missense_Mutation_p.G243S|MARK1_ENST00000366918.4_Missense_Mutation_p.G356S					MAP/microtubule affinity-regulating kinase 1									p.G378S(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GTTTGAAGGTGGTGAATCGTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											70	67	68					1																	220808727		2203	4300	6503	218875350	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1132G>A	1.37:g.220808727G>A	ENSP00000355884:p.Gly378Ser		218875350		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726051	0.30593	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.71341	-0.46;-0.24;-0.56	5.71	3.63	0.41609	.	0.151889	0.64402	N	0.000016	T	0.32734	0.0839	N	0.00707	-1.245	0.43130	D	0.99486	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.16928	-1.0386	10	0.12766	T	0.61	.	7.3988	0.26952	0.3405:0.0:0.6595:0.0	.	378;243;378;356	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	S	243;356;378	ENSP00000386017:G243S;ENSP00000355885:G356S;ENSP00000355884:G378S	ENSP00000355884:G378S	G	+	1	0	MARK1	218875350	1.000000	0.71417	0.996000	0.52242	0.863000	0.49368	5.528000	0.67129	1.431000	0.47355	0.561000	0.74099	GGT		0.403	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			A	220808727	G	A	220808727	3	1	246	1	0	0	0	0	1	0	0	0	9312	1348	47	2	1178	2	MARK1	1	220808727	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10	18968345	220808727	28441894	5	13713											
KLF11	8462	hgsc.bcm.edu	37	2	10188451	10188451	+	Silent	SNP	C	C	T	rs371589306		TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr2:10188451C>T	ENST00000305883.1	+	3	1149	c.987C>T	c.(985-987)ttC>ttT	p.F329F	KLF11_ENST00000540845.1_Silent_p.F312F|KLF11_ENST00000535335.1_Silent_p.F312F	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	329					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F329F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AACCTGTGTTCGTGGGACCTG	0.622											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(56;431 1507 23687 50789)											1	Substitution - coding silent(1)	ovary(1)	2						C	,,	2,4404	4.2+/-10.8	0,2,2201	74	69	71		936,936,987	2.1	0.3	2		71	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	KLF11	NM_001177716.1,NM_001177718.1,NM_003597.4	,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,	312/496,312/496,329/513	10188451	4,13002	2203	4300	6503	10105902	SO:0001819	synonymous_variant	8462			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.987C>T	2.37:g.10188451C>T		662	10105902	B4DZE7|Q9EPF4	Silent	SNP	ENST00000305883.1	37	CCDS1668.1																																																																																				0.622	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		T	10188451	C	T	10188451	2	4	246	1	0	0	0	0	0	0	0	1	8339	883	31	1		1	KLF11	2	10188451	Silent	SNP	C	TCGA-24-1557-01A-01W-0615-10		10188451	233010922	6	13714											
PUM2	23369	hgsc.bcm.edu	37	2	20494170	20494170	+	Silent	SNP	T	T	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr2:20494170T>C	ENST00000361078.2	-	8	1141	c.1119A>G	c.(1117-1119)caA>caG	p.Q373Q	PUM2_ENST00000338086.5_Silent_p.Q373Q|PUM2_ENST00000403432.1_Silent_p.Q373Q|PUM2_ENST00000319801.5_Silent_p.Q373Q|PUM2_ENST00000536417.1_Silent_p.Q317Q			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	373	Ala-rich.|Gln-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.Q373Q(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGATGCTGCTTGCTGACTGG	0.468																																																1	Substitution - coding silent(1)	ovary(1)	2											123	115	118					2																	20494170		2203	4300	6503	20357651	SO:0001819	synonymous_variant	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1119A>G	2.37:g.20494170T>C			20357651	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37																																																																																					0.468	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		C	20494170	T	C	20494170	2	2	246	1	0	0	0	0	0	0	0	1	12829	1606	56	4		4	PUM2	2	20494170	Silent	SNP	T	TCGA-24-1557-01A-01W-0615-10	10305719	20494170	222705203	7	13715											
FSHR	2492	hgsc.bcm.edu	37	2	49381418	49381418	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr2:49381418T>A	ENST00000406846.2	-	1	258	c.139A>T	c.(139-141)Aat>Tat	p.N47Y	FSHR_ENST00000346173.3_Missense_Mutation_p.N47Y|FSHR_ENST00000304421.4_Missense_Mutation_p.N47Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	47					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.N47Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCAATGGCATTCCTCGGGAGG	0.468									Gonadal Dysgenesis, 46 XX																																							1	Substitution - Missense(1)	ovary(1)	2											69	69	69					2																	49381418		2203	4300	6503	49234922	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.139A>T	2.37:g.49381418T>A	ENSP00000384708:p.Asn47Tyr		49234922	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.242973	0.39697	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.46	4.31	0.51392	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	M	0.73217	2.22	0.80722	D	1	D;D;D	0.62365	0.983;0.991;0.987	P;P;P	0.62014	0.792;0.897;0.729	D	0.87641	0.2522	9	.	.	.	.	8.0138	0.30368	0.0:0.0895:0.0:0.9105	.	47;47;47	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Y	47	ENSP00000384708:N47Y;ENSP00000333908:N47Y;ENSP00000306780:N47Y;ENSP00000415504:N47Y	.	N	-	1	0	FSHR	49234922	1.000000	0.71417	0.989000	0.46669	0.288000	0.27193	2.765000	0.47621	1.092000	0.41356	0.533000	0.62120	AAT		0.468	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			A	49381418	T	A	49381418	3	1	246	1	0	0	0	0	1	0	0	0	6073	1783	62	5	1988	5	FSHR	2	49381418	Missense_Mutation	SNP	T	TCGA-24-1557-01A-01W-0615-10	28887248	49381418	193817955	8	13716											
SLC9A4	389015	hgsc.bcm.edu	37	2	103142730	103142730	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr2:103142730A>C	ENST00000295269.4	+	11	2420	c.1963A>C	c.(1963-1965)Aat>Cat	p.N655H		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	655					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.N655H(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGGCACCAAGAATATCCGCTA	0.517																																																1	Substitution - Missense(1)	ovary(1)	2											136	130	132					2																	103142730		2203	4300	6503	102509162	SO:0001583	missense	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1963A>C	2.37:g.103142730A>C	ENSP00000295269:p.Asn655His		102509162	Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629224	0.46944	.	.	ENSG00000180251	ENST00000295269	T	0.46819	0.86	5.8	5.8	0.92144	.	0.719472	0.14502	N	0.315686	T	0.58163	0.2103	M	0.63428	1.95	0.31074	N	0.712736	D	0.57571	0.98	P	0.53146	0.719	T	0.61917	-0.6964	10	0.39692	T	0.17	.	13.6782	0.62467	1.0:0.0:0.0:0.0	.	655	Q6AI14	SL9A4_HUMAN	H	655	ENSP00000295269:N655H	ENSP00000295269:N655H	N	+	1	0	SLC9A4	102509162	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	2.616000	0.46376	2.209000	0.71365	0.533000	0.62120	AAT		0.517	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		C	103142730	A	C	103142730	3	2	246	1	0	0	0	0	1	0	0	0	14719	246	9	5	2005	5	SLC9A4	2	103142730	Missense_Mutation	SNP	A	TCGA-24-1557-01A-01W-0615-10	53761312	103142730	140056643	9	13717											
AOX1	316	hgsc.bcm.edu	37	2	201534449	201534449	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr2:201534449A>T	ENST00000374700.2	+	34	4191	c.3950A>T	c.(3949-3951)gAc>gTc	p.D1317V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1317					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.D1317V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCCTGTGAAGACAAGTTCACA	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											116	113	114					2																	201534449		2203	4300	6503	201242694	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3950A>T	2.37:g.201534449A>T	ENSP00000363832:p.Asp1317Val		201242694	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.592840	0.66219	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.75367	-0.93;-0.93;-0.93	5.51	5.51	0.81932	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.433911	0.26525	N	0.023900	D	0.85401	0.5688	M	0.84082	2.675	0.80722	D	1	D	0.56968	0.978	P	0.61070	0.883	D	0.87654	0.2530	10	0.87932	D	0	-70.7461	14.7432	0.69472	1.0:0.0:0.0:0.0	.	1317	Q06278	ADO_HUMAN	V	1317;181;157	ENSP00000363832:D1317V;ENSP00000260930:D181V;ENSP00000413326:D157V	ENSP00000260930:D181V	D	+	2	0	AOX1	201242694	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.339000	0.52135	2.313000	0.78055	0.455000	0.32223	GAC		0.448	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		T	201534449	A	T	201534449	3	4	246	1	0	0	0	0	1	0	0	0	729	275	10	5	4084	5	AOX1	2	201534449	Missense_Mutation	SNP	A	TCGA-24-1557-01A-01W-0615-10	98391719	201534449	41664924	10	13718											
ABHD5	51099	hgsc.bcm.edu	37	3	43743852	43743852	+	Silent	SNP	G	G	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr3:43743852G>A	ENST00000458276.2	+	3	402	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	93					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)	p.L93L(1)		kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TCTGGGCACTGAATTTTGGAG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	3											196	196	196					3																	43743852		2203	4300	6503	43718856	SO:0001819	synonymous_variant	51099			AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"Abhydrolase domain containing"	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.279G>A	3.37:g.43743852G>A			43718856	B2R9K0|Q9Y369	Silent	SNP	ENST00000458276.2	37	CCDS2711.1																																																																																				0.423	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		A	43743852	G	A	43743852	2	1	246	1	0	0	0	0	0	0	0	1	85	1277	45	2		2	ABHD5	3	43743852	Silent	SNP	G	TCGA-24-1557-01A-01W-0615-10		43743852	154278578	11	13719											
EHHADH	1962	hgsc.bcm.edu	37	3	184922213	184922213	+	Missense_Mutation	SNP	C	C	G	rs201955662		TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr3:184922213C>G	ENST00000231887.3	-	6	976	c.901G>C	c.(901-903)Ggt>Cgt	p.G301R	EHHADH_ENST00000456310.1_Missense_Mutation_p.G205R	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	301	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.G301R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CCAACAACACCAACTGAGGAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	3											91	86	88					3																	184922213		2203	4300	6503	186404907	SO:0001583	missense	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.901G>C	3.37:g.184922213C>G	ENSP00000231887:p.Gly301Arg		186404907	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240346	0.58995	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.78246	-1.16;-1.16	5.53	5.53	0.82687	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.285625	0.37261	N	0.002168	D	0.89993	0.6876	M	0.88031	2.925	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.91569	0.5270	10	0.87932	D	0	-16.0472	18.0274	0.89273	0.0:1.0:0.0:0.0	.	301	Q08426	ECHP_HUMAN	R	301;301;205	ENSP00000231887:G301R;ENSP00000387746:G205R	ENSP00000231887:G301R	G	-	1	0	EHHADH	186404907	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	4.547000	0.60712	2.611000	0.88343	0.650000	0.86243	GGT		0.488	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			G	184922213	C	G	184922213	3	3	246	1	0	0	0	0	1	0	0	0	4982	594	21	3	1278	3	EHHADH	3	184922213	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10	141178361	184922213	13100217	12	13720											
BOD1L	259282	hgsc.bcm.edu	37	4	13601898	13601898	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr4:13601898C>T	ENST00000040738.5	-	10	6761	c.6626G>A	c.(6625-6627)aGc>aAc	p.S2209N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2209						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2209N(1)									CTCCTCCTTGCTGGTTGAGGC	0.507																																																1	Substitution - Missense(1)	ovary(1)	4											73	59	64					4																	13601898		2203	4300	6503	13210996	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6626G>A	4.37:g.13601898C>T	ENSP00000040738:p.Ser2209Asn		13210996	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474363	0.63737	.	.	ENSG00000038219	ENST00000040738	T	0.13420	2.59	5.33	4.49	0.54785	.	0.000000	0.64402	D	0.000007	T	0.18299	0.0439	M	0.66939	2.045	0.31124	N	0.70853	D	0.54047	0.964	P	0.45310	0.476	T	0.21211	-1.0252	10	0.72032	D	0.01	-4.3808	8.0752	0.30712	0.1567:0.7629:0.0:0.0803	.	2209	Q8NFC6	BOD1L_HUMAN	N	2209	ENSP00000040738:S2209N	ENSP00000040738:S2209N	S	-	2	0	BOD1L	13210996	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	2.359000	0.44142	1.257000	0.44085	0.555000	0.69702	AGC		0.507	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		T	13601898	C	T	13601898	3	4	246	1	0	0	0	0	1	0	0	0	1483	797	28	2	2597	2	BOD1L	4	13601898	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10		13601898	177552378	13	13721											
C5orf42	65250	hgsc.bcm.edu	37	5	37120431	37120431	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr5:37120431T>C	ENST00000508244.1	-	48	9128	c.9035A>G	c.(9034-9036)cAt>cGt	p.H3012R	C5orf42_ENST00000274258.7_Missense_Mutation_p.H1910R|C5orf42_ENST00000425232.2_Missense_Mutation_p.H3012R|C5orf42_ENST00000512288.1_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3012						integral component of membrane (GO:0016021)		p.H1910R(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACTGTGACCATGTTGATTCTC	0.353																																																1	Substitution - Missense(1)	ovary(1)	5											81	79	80					5																	37120431		2203	4300	6503	37156188	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9035A>G	5.37:g.37120431T>C	ENSP00000421690:p.His3012Arg		37156188	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	11.83	1.755291	0.31046	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.21	4.05	0.47172	.	0.623087	0.16618	N	0.206614	T	0.33323	0.0859	L	0.48362	1.52	0.09310	N	1	B;P	0.41848	0.007;0.763	B;B	0.33960	0.007;0.173	T	0.10847	-1.0612	10	0.20519	T	0.43	.	7.7843	0.29083	0.0:0.0948:0.0:0.9052	.	3012;1910	E9PH94;Q9H799	.;CE042_HUMAN	R	3012;3012;1910;2078	ENSP00000421690:H3012R;ENSP00000389014:H3012R;ENSP00000274258:H1910R;ENSP00000424223:H2078R	ENSP00000274258:H1910R	H	-	2	0	C5orf42	37156188	0.005000	0.15991	0.002000	0.10522	0.049000	0.14656	1.052000	0.30429	0.838000	0.34948	0.529000	0.55759	CAT		0.353	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37120431	T	C	37120431	3	2	246	1	0	0	0	0	1	0	0	0	2301	1464	51	4	574	4	C5orf42	5	37120431	Missense_Mutation	SNP	T	TCGA-24-1557-01A-01W-0615-10		37120431	143794829	14	13722											
DDX46	9879	hgsc.bcm.edu	37	5	134099771	134099771	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr5:134099771G>T	ENST00000354283.4	+	2	330	c.195G>T	c.(193-195)agG>agT	p.R65S	DDX46_ENST00000452510.2_Missense_Mutation_p.R65S			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	65	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R65S(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGGGACAGGAAGCGTCTGA	0.438																																					Colon(13;391 453 4901 21675 24897)											1	Substitution - Missense(1)	ovary(1)	5											86	85	86					5																	134099771		2203	4300	6503	134127670	SO:0001583	missense	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.195G>T	5.37:g.134099771G>T	ENSP00000346236:p.Arg65Ser		134127670	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522365	0.27211	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.38887	1.11;1.11	5.22	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.80422	2.495	0.58432	D	0.999999	D	0.54601	0.967	P	0.60789	0.879	T	0.58370	-0.7648	10	0.08837	T	0.75	-18.1305	6.8872	0.24209	0.3587:0.0:0.6413:0.0	.	65	Q7L014	DDX46_HUMAN	S	65	ENSP00000416534:R65S;ENSP00000346236:R65S	ENSP00000346236:R65S	R	+	3	2	DDX46	134127670	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	0.279000	0.18771	1.431000	0.47355	0.650000	0.86243	AGG		0.438	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		T	134099771	G	T	134099771	3	4	246	1	0	0	0	0	1	0	0	0	4364	1165	41	3	201	3	DDX46	5	134099771	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10	96979340	134099771	46815489	15	13723											
NCR3	259197	hgsc.bcm.edu	37	6	31557641	31557641	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr6:31557641G>C	ENST00000340027.5	-	2	569	c.306C>G	c.(304-306)gaC>gaG	p.D102E	NCR3_ENST00000376072.3_Missense_Mutation_p.D102E|NCR3_ENST00000376071.4_Missense_Mutation_p.D77E|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_Missense_Mutation_p.D102E	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	102	Ig-like.				cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)		p.D102E(1)		cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						AGATGCTGGCGTCATGGCCTC	0.632																																																1	Substitution - Missense(1)	ovary(1)	6											141	126	131					6																	31557641		1511	2709	4220	31665620	SO:0001583	missense	259197			AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19077	protein-coding gene	gene with protein product		611550	"lymphocyte antigen 117"	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123	ENST00000340027.5:c.306C>G	6.37:g.31557641G>C	ENSP00000342156:p.Asp102Glu		31665620	B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Missense_Mutation	SNP	ENST00000340027.5	37	CCDS34397.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379969	0.42207	.	.	ENSG00000204475	ENST00000340027;ENST00000376073;ENST00000376072;ENST00000376071	D;D;D;T	0.87729	-2.29;-2.29;-2.29;2.69	4.01	-8.02	0.01118	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000053	D	0.88433	0.6435	M	0.85859	2.78	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.987	D;D;D	0.81914	0.992;0.995;0.987	D	0.89234	0.3579	10	0.87932	D	0	-24.6012	14.5939	0.68392	0.2794:0.0:0.7206:0.0	.	102;102;102	O14931-2;Q05D23;O14931	.;.;NCTR3_HUMAN	E	102;102;102;77	ENSP00000342156:D102E;ENSP00000365241:D102E;ENSP00000365240:D102E;ENSP00000365239:D77E	ENSP00000342156:D102E	D	-	3	2	NCR3	31665620	0.000000	0.05858	0.000000	0.03702	0.590000	0.36582	-2.927000	0.00690	-2.191000	0.00756	-0.482000	0.04802	GAC		0.632	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			C	31557641	G	C	31557641	3	2	246	1	0	0	0	0	1	0	0	0	10239	1136	40	3	434	3	NCR3	6	31557641	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10		31557641	139557426	16	13724											
BACH2	60468	hgsc.bcm.edu	37	6	90642153	90642153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr6:90642153C>A	ENST00000257749.4	-	9	3207	c.2500G>T	c.(2500-2502)Gaa>Taa	p.E834*	BACH2_ENST00000537989.1_Nonsense_Mutation_p.E834*|BACH2_ENST00000343122.3_Nonsense_Mutation_p.E834*	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	834						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.E834*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTGGGCTGTTCGTCAGTTGTA	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	6											253	258	256					6																	90642153		2203	4300	6503	90698874	SO:0001587	stop_gained	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2500G>T	6.37:g.90642153C>A	ENSP00000257749:p.Glu834*		90698874	E1P518|Q59H70|Q5T793|Q9NTS5	Nonsense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	45	11.318930	0.99546	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.5506	19.4133	0.94685	0.0:1.0:0.0:0.0	.	.	.	.	X	834	.	ENSP00000257749:E834X	E	-	1	0	BACH2	90698874	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	7.456000	0.80751	2.579000	0.87056	0.561000	0.74099	GAA		0.547	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		A	90642153	C	A	90642153	4	1	246	1	0	0	0	0	0	1	0	0	1284	893	31	3	29	3	BACH2	6	90642153	Nonsense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10	59084512	90642153	80472914	17	13725											
HACE1	57531	hgsc.bcm.edu	37	6	105178187	105178187	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr6:105178187G>A	ENST00000262903.4	-	23	2894	c.2618C>T	c.(2617-2619)tCa>tTa	p.S873L	HACE1_ENST00000369125.2_Missense_Mutation_p.S658L|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	873	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.S873L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CCATGTGCTTGAAGTTGGTAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	6											104	93	97					6																	105178187		2203	4300	6503	105284880	SO:0001583	missense	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2618C>T	6.37:g.105178187G>A	ENSP00000262903:p.Ser873Leu		105284880	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112610	0.56398	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.51071	0.72;0.72	5.63	5.63	0.86233	HECT (4);	0.059142	0.64402	D	0.000001	T	0.67107	0.2858	M	0.82433	2.59	0.36327	D	0.858618	D;B;B;B	0.60160	0.987;0.101;0.192;0.4	D;B;B;B	0.65573	0.936;0.037;0.089;0.085	T	0.72981	-0.4126	10	0.87932	D	0	.	19.6816	0.95965	0.0:0.0:1.0:0.0	.	658;362;873;526	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	L	873;658	ENSP00000262903:S873L;ENSP00000358121:S658L	ENSP00000262903:S873L	S	-	2	0	HACE1	105284880	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.328000	0.96403	2.654000	0.90174	0.655000	0.94253	TCA		0.378	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		A	105178187	G	A	105178187	3	1	246	1	0	0	0	0	1	0	0	0	6940	1294	45	2	119	2	HACE1	6	105178187	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10	14536034	105178187	65936880	18	13726											
CPA5	93979	hgsc.bcm.edu	37	7	130002341	130002341	+	Silent	SNP	G	G	A	rs140378089		TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr7:130002341G>A	ENST00000485477.1	+	7	1726	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CPA5_ENST00000355388.3_Silent_p.E199E|CPA5_ENST00000461828.1_Silent_p.E199E|CPA5_ENST00000431780.2_Silent_p.E199E|CPA5_ENST00000466363.2_Silent_p.E199E|CPA5_ENST00000393213.3_Silent_p.E199E|CPA5_ENST00000474905.1_Silent_p.E199E			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	199	Substrate binding. {ECO:0000250}.					extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E199E(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ACTCCCGGGAGTGGATCACCC	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		18011	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	7						G	,,	1,4405	2.1+/-5.4	0,1,2202	51	47	48		597,597,597	5.6	1	7	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CPA5	NM_001127441.1,NM_001127442.1,NM_080385.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	199/437,199/404,199/437	130002341	1,13005	2203	4300	6503	129789577	SO:0001819	synonymous_variant	93979			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.597G>A	7.37:g.130002341G>A			129789577	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Silent	SNP	ENST00000485477.1	37	CCDS5819.1																																																																																				0.577	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		A	130002341	G	A	130002341	2	1	246	1	0	0	0	0	0	0	0	1	3793	1020	36	2		2	CPA5	7	130002341	Silent	SNP	G	TCGA-24-1557-01A-01W-0615-10		130002341	29136322	19	13727											
CLN8	2055	hgsc.bcm.edu	37	8	1719606	1719606	+	Missense_Mutation	SNP	G	G	A	rs571617007		TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr8:1719606G>A	ENST00000331222.4	+	2	633	c.386G>A	c.(385-387)cGg>cAg	p.R129Q		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	129	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R129Q(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TTGATCTTCCGGACATTTGAC	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		20401	0		0	False		,,,				2504	0				Pancreas(155;338 1942 6138 10888 50612)											1	Substitution - Missense(1)	ovary(1)	8											198	195	196					8																	1719606		2203	4300	6503	1707013	SO:0001583	missense	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.386G>A	8.37:g.1719606G>A	ENSP00000328182:p.Arg129Gln		1707013	Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302850	0.40795	.	.	ENSG00000182372	ENST00000331222	D	0.84800	-1.9	5.06	-0.156	0.13391	TRAM/LAG1/CLN8 homology domain (3);	0.214791	0.30126	U	0.010360	D	0.82921	0.5142	M	0.67953	2.075	0.25766	N	0.984891	D	0.60575	0.988	P	0.47118	0.538	T	0.76085	-0.3088	9	.	.	.	-10.267	8.9264	0.35643	0.3966:0.0:0.6034:0.0	.	129	Q9UBY8	CLN8_HUMAN	Q	129	ENSP00000328182:R129Q	.	R	+	2	0	CLN8	1707013	0.852000	0.29690	0.011000	0.14972	0.040000	0.13550	2.983000	0.49345	-0.383000	0.07858	0.455000	0.32223	CGG		0.488	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		A	1719606	G	A	1719606	3	1	246	1	0	0	0	0	1	0	0	0	3546	1116	39	1	388	1	CLN8	8	1719606	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10		1719606	144644416	20	13728											
SMARCA2	6595	hgsc.bcm.edu	37	9	2039514	2039514	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr9:2039514C>A	ENST00000382203.1	+	4	613	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	SMARCA2_ENST00000357248.2_Missense_Mutation_p.S135Y|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S135Y|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S135Y|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	135					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.S135Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAGCACGTCTCCAGCCCTATG	0.567																																																1	Substitution - Missense(1)	ovary(1)	9											79	85	83					9																	2039514		2203	4300	6503	2029514	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.404C>A	9.37:g.2039514C>A	ENSP00000371638:p.Ser135Tyr		2029514	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460871	0.84317	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	D;D;T;D;D	0.87887	-2.31;-2.31;0.74;-2.31;-2.31	5.46	5.46	0.80206	.	0.139502	0.50627	D	0.000119	D	0.90769	0.7102	L	0.38175	1.15	0.80722	D	1	D;D	0.64830	0.994;0.982	D;D	0.72075	0.976;0.946	D	0.91363	0.5113	10	0.62326	D	0.03	-17.6776	19.2963	0.94124	0.0:1.0:0.0:0.0	.	135;135	P51531-2;P51531	.;SMCA2_HUMAN	Y	135	ENSP00000265773:S135Y;ENSP00000349788:S135Y;ENSP00000392081:S135Y;ENSP00000371638:S135Y;ENSP00000371629:S135Y	ENSP00000265773:S135Y	S	+	2	0	SMARCA2	2029514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.050000	0.71063	2.562000	0.86427	0.655000	0.94253	TCC		0.567	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039514	C	A	2039514	3	1	246	1	0	0	0	0	1	0	0	0	14772	855	30	3	414	3	SMARCA2	9	2039514	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10		2039514	139173917	21	13729											
C9orf72	203228	hgsc.bcm.edu	37	9	27556634	27556634	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr9:27556634A>G	ENST00000380003.3	-	8	1079	c.1016T>C	c.(1015-1017)tTc>tCc	p.F339S	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	339					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.F339S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GGCTCTCCAGAAGGCTGTCAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	9											154	142	146					9																	27556634		2203	4300	6503	27546634	SO:0001583	missense	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1016T>C	9.37:g.27556634A>G	ENSP00000369339:p.Phe339Ser		27546634	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138049	0.56936	.	.	ENSG00000147894	ENST00000380003	T	0.43688	0.94	5.79	5.79	0.91817	.	0.111843	0.64402	D	0.000004	T	0.25269	0.0614	N	0.08118	0	0.80722	D	1	B	0.22146	0.065	B	0.21546	0.035	T	0.11060	-1.0603	9	.	.	.	.	16.1255	0.81392	1.0:0.0:0.0:0.0	.	339	Q96LT7	CI072_HUMAN	S	339	ENSP00000369339:F339S	.	F	-	2	0	C9orf72	27546634	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.079000	0.76829	2.205000	0.71048	0.477000	0.44152	TTC		0.448	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		G	27556634	A	G	27556634	3	3	246	1	0	0	0	0	1	0	0	0	2495	246	9	4	445	4	C9orf72	9	27556634	Missense_Mutation	SNP	A	TCGA-24-1557-01A-01W-0615-10	25517120	27556634	113656797	22	13730											
PHF19	26147	hgsc.bcm.edu	37	9	123623421	123623421	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr9:123623421T>C	ENST00000373896.3	-	13	1502	c.1250A>G	c.(1249-1251)cAc>cGc	p.H417R	PHF19_ENST00000419155.1_Missense_Mutation_p.H208R|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	417					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.H417R(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCCAGGTGGTGGTTGGTGCT	0.517																																																1	Substitution - Missense(1)	ovary(1)	9											167	148	155					9																	123623421		2203	4300	6503	122663242	SO:0001583	missense	26147			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1250A>G	9.37:g.123623421T>C	ENSP00000363003:p.His417Arg		122663242	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487996	0.44249	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155	T;T	0.41758	1.99;0.99	5.49	5.49	0.81192	.	0.101585	0.64402	D	0.000002	T	0.32285	0.0824	L	0.32530	0.975	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.09100	-1.0690	10	0.21540	T	0.41	-27.0874	13.8228	0.63333	0.0:0.0:0.0:1.0	.	417	Q5T6S3	PHF19_HUMAN	R	417;417;208	ENSP00000363003:H417R;ENSP00000407433:H208R	ENSP00000363003:H417R	H	-	2	0	PHF19	122663242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.378000	0.79679	2.208000	0.71279	0.533000	0.62120	CAC		0.517	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		C	123623421	T	C	123623421	3	2	246	1	0	0	0	0	1	0	0	0	11829	1696	59	4	504	4	PHF19	9	123623421	Missense_Mutation	SNP	T	TCGA-24-1557-01A-01W-0615-10	96066787	123623421	17590010	23	13731											
ELOVL3	83401	hgsc.bcm.edu	37	10	103988226	103988226	+	Missense_Mutation	SNP	G	G	A	rs150163535	byFrequency	TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr10:103988226G>A	ENST00000370005.3	+	3	507	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	96					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.G96R(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		GCTACTTACCGGGGGCCTAAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	10						G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	113	107	109		286	-3.7	0	10	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	ELOVL3	NM_152310.1	125	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	96/271	103988226	2,13004	2203	4300	6503	103978216	SO:0001583	missense	83401			AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.286G>A	10.37:g.103988226G>A	ENSP00000359022:p.Gly96Arg		103978216	Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	G	9.123	1.009359	0.19277	2.27E-4	1.16E-4	ENSG00000119915	ENST00000370005	T	0.21361	2.01	4.67	-3.69	0.04450	.	0.959064	0.08632	N	0.916897	T	0.11922	0.0290	N	0.17594	0.5	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.36529	-0.9744	10	0.19590	T	0.45	-20.6228	13.1013	0.59222	0.6747:0.0:0.3253:0.0	.	96	Q9HB03	ELOV3_HUMAN	R	96	ENSP00000359022:G96R	ENSP00000359022:G96R	G	+	1	0	ELOVL3	103978216	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.389000	0.07342	-0.874000	0.04027	-0.291000	0.09656	GGG		0.502	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		A	103988226	G	A	103988226	3	1	246	1	0	0	0	0	1	0	0	0	5075	1116	39	1	296	1	ELOVL3	10	103988226	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10		103988226	31546521	24	13732											
SMC3	9126	hgsc.bcm.edu	37	10	112343657	112343657	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr10:112343657A>T	ENST00000361804.4	+	12	1154	c.1028A>T	c.(1027-1029)gAa>gTa	p.E343V		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	343					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.E343V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGCAGAAAGAACTGGCAGAA	0.343																																																1	Substitution - Missense(1)	ovary(1)	10											85	92	90					10																	112343657		2203	4300	6503	112333647	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1028A>T	10.37:g.112343657A>T	ENSP00000354720:p.Glu343Val		112333647	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268327	0.80469	.	.	ENSG00000108055	ENST00000361804	T	0.79554	-1.28	5.52	5.52	0.82312	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.89601	3.045	0.80722	D	1	P	0.46578	0.88	P	0.50860	0.652	D	0.90601	0.4544	10	0.72032	D	0.01	.	14.8393	0.70212	1.0:0.0:0.0:0.0	.	343	Q9UQE7	SMC3_HUMAN	V	343	ENSP00000354720:E343V	ENSP00000354720:E343V	E	+	2	0	SMC3	112333647	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.434000	0.90294	2.093000	0.63338	0.528000	0.53228	GAA		0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		T	112343657	A	T	112343657	3	4	246	1	0	0	0	0	1	0	0	0	14787	246	9	5	1074	5	SMC3	10	112343657	Missense_Mutation	SNP	A	TCGA-24-1557-01A-01W-0615-10	8355431	112343657	23191090	25	13733											
CHKA	1119	hgsc.bcm.edu	37	11	67837737	67837737	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr11:67837737A>G	ENST00000265689.4	-	6	814	c.788T>C	c.(787-789)aTt>aCt	p.I263T	CHKA_ENST00000356135.5_Missense_Mutation_p.I245T	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	263					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)	p.I263T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	AGTAAATTTAATTCTCAGCAC	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											74	80	78					11																	67837737		2200	4294	6494	67594313	SO:0001583	missense	1119			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"choline kinase"	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.788T>C	11.37:g.67837737A>G	ENSP00000265689:p.Ile263Thr		67594313	Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	A	9.292	1.050969	0.19827	.	.	ENSG00000110721	ENST00000265689;ENST00000356135;ENST00000531341	T;T;T	0.52295	0.67;0.67;0.67	5.22	5.22	0.72569	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.279247	0.34531	N	0.003893	T	0.38188	0.1031	N	0.12831	0.26	0.41159	D	0.986086	B;B	0.29671	0.119;0.254	B;B	0.38842	0.283;0.262	T	0.42378	-0.9455	10	0.54805	T	0.06	-5.9676	15.095	0.72226	1.0:0.0:0.0:0.0	.	245;263	P35790-2;P35790	.;CHKA_HUMAN	T	263;245;141	ENSP00000265689:I263T;ENSP00000348454:I245T;ENSP00000435032:I141T	ENSP00000265689:I263T	I	-	2	0	CHKA	67594313	0.975000	0.34042	0.287000	0.24848	0.292000	0.27327	8.549000	0.90672	1.958000	0.56883	0.459000	0.35465	ATT		0.363	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277		G	67837737	A	G	67837737	3	3	246	1	0	0	0	0	1	0	0	0	3347	101	4	4	613	4	CHKA	11	67837737	Missense_Mutation	SNP	A	TCGA-24-1557-01A-01W-0615-10		67837737	67168779	26	13734											
PPFIA1	8500	hgsc.bcm.edu	37	11	70221056	70221056	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr11:70221056C>T	ENST00000253925.7	+	24	3387	c.3172C>T	c.(3172-3174)Cgc>Tgc	p.R1058C	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R1058C|AP000487.5_ENST00000500185.2_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1058	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.R1058C(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCGAGTGATTCGCTGGATCCT	0.408																																																1	Substitution - Missense(1)	ovary(1)	11											137	122	127					11																	70221056		2200	4294	6494	69898704	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3172C>T	11.37:g.70221056C>T	ENSP00000253925:p.Arg1058Cys		69898704	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610013	0.66558	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	D;D	0.85088	-1.94;-1.94	5.75	4.83	0.62350	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.683493	0.14346	U	0.325429	D	0.83175	0.5197	L	0.45744	1.44	0.39864	D	0.973411	D;B;B	0.67145	0.996;0.003;0.045	P;B;B	0.45506	0.483;0.004;0.009	T	0.82849	-0.0254	10	0.46703	T	0.11	.	13.9075	0.63845	0.2769:0.7231:0.0:0.0	.	555;1058;1058	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	C	1058;1058;555	ENSP00000253925:R1058C;ENSP00000374198:R1058C	ENSP00000253925:R1058C	R	+	1	0	PPFIA1	69898704	0.052000	0.20516	0.830000	0.32933	0.855000	0.48748	1.264000	0.33015	1.410000	0.46936	0.650000	0.86243	CGC		0.408	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		T	70221056	C	T	70221056	3	4	246	1	0	0	0	0	1	0	0	0	12309	884	31	1	3262	1	PPFIA1	11	70221056	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10	2383319	70221056	64785460	27	13735											
IL10RA	3587	hgsc.bcm.edu	37	11	117870266	117870266	+	Silent	SNP	C	C	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr11:117870266C>A	ENST00000227752.3	+	7	1767	c.1647C>A	c.(1645-1647)ggC>ggA	p.G549G	IL10RA_ENST00000545409.1_Silent_p.G400G|IL10RA_ENST00000541785.1_Silent_p.G529G|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	549					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.G549G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCCCTCTAGGCTGTGTGGCAG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	11											51	48	49					11																	117870266		2199	4296	6495	117375476	SO:0001819	synonymous_variant	3587			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.1647C>A	11.37:g.117870266C>A			117375476	A8K6I0|B0YJ27	Silent	SNP	ENST00000227752.3	37	CCDS8388.1																																																																																				0.592	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			A	117870266	C	A	117870266	2	1	246	1	0	0	0	0	0	0	0	1	7620	784	28	3		3	IL10RA	11	117870266	Silent	SNP	C	TCGA-24-1557-01A-01W-0615-10	47649210	117870266	17136250	28	13736											
KIAA1467	57613	hgsc.bcm.edu	37	12	13221382	13221382	+	Splice_Site	SNP	G	G	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr12:13221382G>C	ENST00000197268.8	+	8	1406		c.e8+1			NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)		p.?(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCCTGCGCAGGTTTGCATTGT	0.458																																																1	Unknown(1)	ovary(1)	12											177	136	150					12																	13221382		2203	4300	6503	13112649	SO:0001630	splice_region_variant	57613			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1286+1G>C	12.37:g.13221382G>C			13112649	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Splice_Site	SNP	ENST00000197268.8	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103442	0.56291	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4053	0.87472	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1467	13112649	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	6.337000	0.72958	2.532000	0.85374	0.655000	0.94253	.		0.458	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	Intron	C	13221382	G	C	13221382	5	2	246	1	0	0	0	0	0	0	1	0	8235	1275	44	3	1317	3	KIAA1467	12	13221382	Splice_Site	SNP	G	TCGA-24-1557-01A-01W-0615-10		13221382	120630513	29	13737											
C12orf10	60314	hgsc.bcm.edu	37	12	53700512	53700512	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr12:53700512T>A	ENST00000267103.5	+	6	866	c.814T>A	c.(814-816)Tgg>Agg	p.W272R	C12orf10_ENST00000549488.1_Missense_Mutation_p.W109R|AAAS_ENST00000549983.1_5'Flank|C12orf10_ENST00000548632.1_Missense_Mutation_p.W197R	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	272					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.W272R(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						TGCATGTCCCTGGAAGGAGCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											145	121	129					12																	53700512		2203	4300	6503	51986779	SO:0001583	missense	60314			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.814T>A	12.37:g.53700512T>A	ENSP00000267103:p.Trp272Arg		51986779		Missense_Mutation	SNP	ENST00000267103.5	37	CCDS31810.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022307	0.75275	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000545214;ENST00000548632;ENST00000549488	T;T;T	0.53423	0.62;0.62;0.62	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.73007	-0.4118	10	0.87932	D	0	-19.5171	12.0604	0.53559	0.0:0.0:0.0:1.0	.	221;272	F5H641;Q9HB07	.;MYG1_HUMAN	R	272;157;221;197;109	ENSP00000267103:W272R;ENSP00000450270:W197R;ENSP00000448433:W109R	ENSP00000267103:W272R	W	+	1	0	C12orf10	51986779	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.193000	0.77780	2.182000	0.69389	0.533000	0.62120	TGG		0.532	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		A	53700512	T	A	53700512	3	1	246	1	0	0	0	0	1	0	0	0	1674	1580	55	5	836	5	C12orf10	12	53700512	Missense_Mutation	SNP	T	TCGA-24-1557-01A-01W-0615-10	40479130	53700512	80151383	30	13738											
ALOX5AP	241	hgsc.bcm.edu	37	13	31318290	31318290	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr13:31318290C>T	ENST00000380490.3	+	2	262	c.164C>T	c.(163-165)aCt>aTt	p.T55I	ALOX5AP_ENST00000479597.1_3'UTR	NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	55					arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485)	p.T55I(1)		endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		CGGGTCTACACTGCCAAGTGA	0.537																																																1	Substitution - Missense(1)	ovary(1)	13											78	59	66					13																	31318290		2203	4300	6503	30216290	SO:0001583	missense	241			AH001462	CCDS9337.1, CCDS73558.1	13q12	2008-07-18			ENSG00000132965	ENSG00000132965			436	protein-coding gene	gene with protein product	"five-lipoxygenase activating protein", "MK-886-binding protein"	603700				1673682, 10036194	Standard	NM_001629		Approved	FLAP	uc010tdr.2	P20292	OTTHUMG00000016677	ENST00000380490.3:c.164C>T	13.37:g.31318290C>T	ENSP00000369858:p.Thr55Ile		30216290	Q5VV04	Missense_Mutation	SNP	ENST00000380490.3	37	CCDS9337.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963038	0.74016	.	.	ENSG00000132965	ENST00000380490	T	0.68903	-0.36	5.68	5.68	0.88126	Membrane associated eicosanoid/glutathione metabolism-like domain (1);FLAP/GST2/LTC4S, conserved site (1);	0.093194	0.85682	D	0.000000	T	0.74650	0.3744	L	0.36672	1.1	0.50171	D	0.999853	D	0.76494	0.999	D	0.85130	0.997	T	0.74799	-0.3542	10	0.51188	T	0.08	-17.0092	15.2816	0.73790	0.0:1.0:0.0:0.0	.	55	P20292	AL5AP_HUMAN	I	55	ENSP00000369858:T55I	ENSP00000369858:T55I	T	+	2	0	ALOX5AP	30216290	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.099000	0.50267	2.674000	0.91012	0.555000	0.69702	ACT		0.537	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044372.1	NM_001629		T	31318290	C	T	31318290	3	4	246	1	0	0	0	0	1	0	0	0	541	565	20	2	170	2	ALOX5AP	13	31318290	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10		31318290	83851588	31	13739											
HAUS4	54930	hgsc.bcm.edu	37	14	23417107	23417107	+	Silent	SNP	C	C	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr14:23417107C>A	ENST00000206474.7	-	7	930	c.678G>T	c.(676-678)ctG>ctT	p.L226L	HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.A56S|HAUS4_ENST00000541587.1_Silent_p.L226L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Silent_p.L181L|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000490506.1_Silent_p.L102L|HAUS4_ENST00000342454.8_Silent_p.L181L|HAUS4_ENST00000555367.1_Silent_p.L181L			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	226					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.L226L(1)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCTTCTCCAGCAGCAACATCT	0.557																																																1	Substitution - coding silent(1)	ovary(1)	14											112	99	104					14																	23417107		2203	4300	6503	22486947	SO:0001819	synonymous_variant	54930			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.678G>T	14.37:g.23417107C>A			22486947	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Silent	SNP	ENST00000206474.7	37	CCDS9580.1																																																																																				0.557	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			A	23417107	C	A	23417107	2	1	246	1	0	0	0	0	0	0	0	1	6968	697	25	3		3	HAUS4	14	23417107	Silent	SNP	C	TCGA-24-1557-01A-01W-0615-10		23417107	83932433	32	13740											
TMEM62	80021	hgsc.bcm.edu	37	15	43438750	43438750	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr15:43438750G>A	ENST00000260403.2	+	5	815	c.536G>A	c.(535-537)gGc>gAc	p.G179D		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	179						integral component of membrane (GO:0016021)		p.G179D(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ACTCCCTTTGGCAACTATTCG	0.378																																																1	Substitution - Missense(1)	ovary(1)	15											236	231	233					15																	43438750		2203	4299	6502	41226042	SO:0001583	missense	80021			BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.536G>A	15.37:g.43438750G>A	ENSP00000260403:p.Gly179Asp		41226042	Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136498	0.94517	.	.	ENSG00000137842	ENST00000260403	T	0.51574	0.7	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68002	-0.5524	10	0.39692	T	0.17	-8.3221	18.9054	0.92458	0.0:0.0:1.0:0.0	.	179	Q0P6H9	TMM62_HUMAN	D	179	ENSP00000260403:G179D	ENSP00000260403:G179D	G	+	2	0	TMEM62	41226042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.326000	0.96389	2.691000	0.91804	0.563000	0.77884	GGC		0.378	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		A	43438750	G	A	43438750	3	1	246	1	0	0	0	0	1	0	0	0	16189	1203	42	2	554	2	TMEM62	15	43438750	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10		43438750	59092642	33	13741											
RBBP6	5930	hgsc.bcm.edu	37	16	24582325	24582325	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr16:24582325T>C	ENST00000319715.4	+	18	4370	c.3938T>C	c.(3937-3939)aTg>aCg	p.M1313T	RBBP6_ENST00000348022.2_Missense_Mutation_p.M1279T|RBBP6_ENST00000381039.3_Missense_Mutation_p.M473T	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1313					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M1313T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTATCATTATGATTCAGGTT	0.363																																																1	Substitution - Missense(1)	ovary(1)	16											59	56	57					16																	24582325		2197	4300	6497	24489826	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3938T>C	16.37:g.24582325T>C	ENSP00000317872:p.Met1313Thr		24489826	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824328	0.50739	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.22134	1.97;2.4;2.35	5.4	5.4	0.78164	.	0.061049	0.64402	D	0.000003	T	0.32194	0.0821	L	0.32530	0.975	0.45415	D	0.998396	D;D;D	0.57899	0.981;0.981;0.967	D;D;D	0.69142	0.962;0.962;0.916	T	0.03608	-1.1020	10	0.12766	T	0.61	-9.2569	15.7172	0.77677	0.0:0.0:0.0:1.0	.	473;1279;1313	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	T	473;1313;1279	ENSP00000370427:M473T;ENSP00000317872:M1313T;ENSP00000316291:M1279T	ENSP00000317872:M1313T	M	+	2	0	RBBP6	24489826	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.156000	0.71840	2.170000	0.68504	0.460000	0.39030	ATG		0.363	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		C	24582325	T	C	24582325	3	2	246	1	0	0	0	0	1	0	0	0	13106	1464	51	4	4062	4	RBBP6	16	24582325	Missense_Mutation	SNP	T	TCGA-24-1557-01A-01W-0615-10		24582325	65772428	34	13742											
TP53	7157	hgsc.bcm.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr17:7578556T>C	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	AGGGGAGTACTGTAGGAAGAG	0.552		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"	46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	17											41	42	41					17																	7578556		2203	4300	6503	7519281	SO:0001630	splice_region_variant	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.376-2A>G	17.37:g.7578556T>C			7519281	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336894	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7578556	T	C	7578556	5	2	246	1	0	0	0	0	0	0	1	0	16381	1594	55	4	924	4	TP53	17	7578556	Splice_Site	SNP	T	TCGA-24-1557-01A-01W-0615-10		7578556	73616654	35	13743											
SLFN13	146857	hgsc.bcm.edu	37	17	33769259	33769260	+	Frame_Shift_Ins	INS	-	-	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr17:33769259_33769260insT	ENST00000285013.6	-	5	1519_1520	c.1244_1245insA	c.(1243-1245)gagfs	p.E415fs	SLFN13_ENST00000360502.2_Frame_Shift_Ins_p.E97fs|SLFN13_ENST00000542635.1_Frame_Shift_Ins_p.E415fs|SLFN13_ENST00000534689.1_Frame_Shift_Ins_p.E97fs|SLFN13_ENST00000533791.1_Frame_Shift_Ins_p.E415fs|SLFN13_ENST00000526861.1_Frame_Shift_Ins_p.E415fs	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	415						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.L416fs*6(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTAAAGACAGCTCCTTCCAGAG	0.436																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								30793373	SO:0001589	frameshift_variant	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1245dupA	17.37:g.33769260_33769260dupT	ENSP00000285013:p.Glu415fs		30793372	E1P645|Q658M1|Q6ZS51|Q96A81	Frame_Shift_Ins	INS	ENST00000285013.6	37	CCDS32620.1																																																																																				0.436	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		T	33769260	-	T	33769259	7	5	246	1	0	1	1	0	0	0	0	0	14739	796	28	0	1456	0	SLFN13	17	33769259	Frame_Shift_Ins	INS	-	TCGA-24-1557-01A-01W-0615-10	26190703	33769259	47425951	36	13744	21	2									
SLFN13	146857	hgsc.bcm.edu	37	17	33769264	33769264	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr17:33769264T>A	ENST00000285013.6	-	5	1515	c.1240A>T	c.(1240-1242)Aag>Tag	p.K414*	SLFN13_ENST00000360502.2_Nonsense_Mutation_p.K96*|SLFN13_ENST00000542635.1_Nonsense_Mutation_p.K414*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.K96*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.K414*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.K414*	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	414						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.K414*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GACAGCTCCTTCCAGAGGGAC	0.423																																																1	Substitution - Nonsense(1)	ovary(1)	17											61	59	60					17																	33769264		2203	4300	6503	30793377	SO:0001587	stop_gained	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1240A>T	17.37:g.33769264T>A	ENSP00000285013:p.Lys414*		30793377	E1P645|Q658M1|Q6ZS51|Q96A81	Nonsense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	t	31	5.080444	0.94050	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	.	.	.	3.21	0.678	0.17969	.	1.226110	0.05891	N	0.628291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9969	0.06001	0.0:0.147:0.2581:0.5949	.	.	.	.	X	414;96;414;414;96;83	.	ENSP00000285013:K414X	K	-	1	0	SLFN13	30793377	0.000000	0.05858	0.020000	0.16555	0.104000	0.19210	-0.629000	0.05508	0.434000	0.26340	0.334000	0.21626	AAG		0.423	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		A	33769264	T	A	33769264	4	1	246	1	0	0	0	0	0	1	0	0	14739	1792	62	5	1461	5	SLFN13	17	33769264	Nonsense_Mutation	SNP	T	TCGA-24-1557-01A-01W-0615-10	5	33769264	47425946	37	13745	21	2									
CCL15	6359	hgsc.bcm.edu	37	17	34325392	34325392	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr17:34325392T>C	ENST00000354059.4	-	3	724	c.172A>G	c.(172-174)Atc>Gtc	p.I58V	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.I58V|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	58					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.I58V(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTTGTGAGATGTAGGAGGTG	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											74	63	67					17																	34325392		2203	4300	6503	31349505	SO:0001583	missense	6359			AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"Chemokine ligands", "Endogenous ligands"	10613	protein-coding gene	gene with protein product	"leukotactin 1", "CC chemokine 3", "macrophage inflammatory protein 5", "chemokine CC-2", "MIP-1 delta"	601393	"small inducible cytokine subfamily A (Cys-Cys), member 15"	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.172A>G	17.37:g.34325392T>C	ENSP00000293276:p.Ile58Val		31349505	B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	ENST00000354059.4	37	CCDS11304.1	.	.	.	.	.	.	.	.	.	.	T	0.888	-0.726321	0.03158	.	.	ENSG00000161574	ENST00000354059	T	0.12465	2.68	4.55	-1.57	0.08506	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.087510	0.07045	N	0.830955	T	0.06508	0.0167	N	0.13198	0.31	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43147	-0.9409	10	0.17369	T	0.5	.	4.143	0.10203	0.1707:0.3934:0.0:0.4358	.	58	Q16663	CCL15_HUMAN	V	58	ENSP00000293276:I58V	ENSP00000293276:I58V	I	-	1	0	CCL15	31349505	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.362000	0.02595	-0.211000	0.10124	-0.264000	0.10439	ATC		0.498	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167		C	34325392	T	C	34325392	3	2	246	1	0	0	0	0	1	0	0	0	2886	1464	51	4	177	4	CCL15	17	34325392	Missense_Mutation	SNP	T	TCGA-24-1557-01A-01W-0615-10	556128	34325392	46869818	38	13746											
CBLC	23624	hgsc.bcm.edu	37	19	45297507	45297507	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr19:45297507C>T	ENST00000270279.3	+	9	1394	c.1331C>T	c.(1330-1332)cCc>cTc	p.P444L	CBLC_ENST00000341505.4_Missense_Mutation_p.P398L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	444	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P444L(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GATCTGCCCCCCAGGAAGCCC	0.632			M		AML																																		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	1	Substitution - Missense(1)	ovary(1)	19											84	98	94					19																	45297507		2203	4300	6503	49989347	SO:0001583	missense	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1331C>T	19.37:g.45297507C>T	ENSP00000270279:p.Pro444Leu		49989347	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.509024	0.44660	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.86865	-2.18;-2.17	2.95	1.9	0.25705	.	0.452370	0.17770	N	0.162640	D	0.87297	0.6142	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.75983	-0.3125	10	0.87932	D	0	-11.2221	5.8907	0.18911	0.0:0.8536:0.0:0.1464	.	398;444	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	L	444;398	ENSP00000270279:P444L;ENSP00000340250:P398L	ENSP00000270279:P444L	P	+	2	0	CBLC	49989347	0.107000	0.21998	0.006000	0.13384	0.160000	0.22226	3.464000	0.53057	0.816000	0.34421	0.555000	0.69702	CCC		0.632	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		T	45297507	C	T	45297507	3	4	246	1	0	0	0	0	1	0	0	0	2702	623	22	2	1365	2	CBLC	19	45297507	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10		45297507	13831476	39	13747											
HAO1	54363	hgsc.bcm.edu	37	20	7866210	7866210	+	Missense_Mutation	SNP	C	C	T	rs201216901	byFrequency	TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chr20:7866210C>T	ENST00000378789.3	-	7	1051	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	334	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.E334K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTAGTATCTCGAGGACATCT	0.378													C|||	7	0.00139776	0	0	5008	,	,		20342	0		0	False		,,,				2504	0.0072															1	Substitution - Missense(1)	ovary(1)	20											111	98	102					20																	7866210		2203	4300	6503	7814210	SO:0001583	missense	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.1000G>A	20.37:g.7866210C>T	ENSP00000368066:p.Glu334Lys		7814210	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194757	0.38806	.	.	ENSG00000101323	ENST00000378789	T	0.31247	1.5	5.98	5.03	0.67393	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.183894	0.64402	D	0.000018	T	0.24392	0.0591	L	0.45698	1.435	0.51233	D	0.999913	B;B	0.13594	0.008;0.008	B;B	0.15052	0.012;0.012	T	0.09015	-1.0694	10	0.39692	T	0.17	-0.0147	6.4418	0.21854	0.0:0.6381:0.2071:0.1548	.	334;334	A8K058;Q9UJM8	.;HAOX1_HUMAN	K	334	ENSP00000368066:E334K	ENSP00000368066:E334K	E	-	1	0	HAO1	7814210	0.690000	0.27699	1.000000	0.80357	0.880000	0.50808	1.149000	0.31626	2.843000	0.97960	0.585000	0.79938	GAG		0.378	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			T	7866210	C	T	7866210	3	4	246	1	0	0	0	0	1	0	0	0	6951	893	31	1	120	1	HAO1	20	7866210	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10		7866210	55159310	40	13748											
MOSPD2	158747	hgsc.bcm.edu	37	X	14929504	14929504	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chrX:14929504C>A	ENST00000380492.3	+	9	936	c.848C>A	c.(847-849)tCt>tAt	p.S283Y	MOSPD2_ENST00000482354.1_Missense_Mutation_p.S283Y|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	283						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.S283Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GAAACAATTTCTAATGAAGAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											93	84	87					X																	14929504		2203	4300	6503	14839425	SO:0001583	missense	158747			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.848C>A	X.37:g.14929504C>A	ENSP00000369860:p.Ser283Tyr		14839425	Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	C	4.742	0.137954	0.09083	.	.	ENSG00000130150	ENST00000380492	T	0.66099	-0.19	5.0	2.22	0.28083	.	0.345366	0.31312	N	0.007879	T	0.50309	0.1608	L	0.57536	1.79	0.09310	N	1	B	0.15473	0.013	B	0.20577	0.03	T	0.35001	-0.9806	10	0.17369	T	0.5	-25.8417	5.2448	0.15490	0.0:0.5904:0.1471:0.2625	.	283	Q8NHP6	MSPD2_HUMAN	Y	283	ENSP00000369860:S283Y	ENSP00000369860:S283Y	S	+	2	0	MOSPD2	14839425	0.997000	0.39634	0.113000	0.21522	0.636000	0.38137	1.096000	0.30976	0.102000	0.17638	0.594000	0.82650	TCT		0.373	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		A	14929504	C	A	14929504	3	1	246	1	0	0	0	0	1	0	0	0	9716	913	32	3	882	3	MOSPD2	23	14929504	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10		14929504	140341056	41	13749											
GNL3L	54552	hgsc.bcm.edu	37	X	54584948	54584948	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chrX:54584948C>G	ENST00000336470.4	+	15	1665	c.1526C>G	c.(1525-1527)cCt>cGt	p.P509R	GNL3L_ENST00000360845.2_Missense_Mutation_p.P509R	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	509					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.P509R(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GACCACCGCCCTAAGAGCAAC	0.557																																																1	Substitution - Missense(1)	ovary(1)	X											128	93	105					X																	54584948		2203	4300	6503	54601673	SO:0001583	missense	54552			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1526C>G	X.37:g.54584948C>G	ENSP00000338573:p.Pro509Arg		54601673		Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	C	1.722	-0.496277	0.04291	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.17370	2.28;2.28	3.97	3.97	0.46021	.	1.047260	0.07429	N	0.895387	T	0.11922	0.0290	L	0.27053	0.805	0.21933	N	0.999461	B	0.34015	0.435	B	0.27715	0.082	T	0.10291	-1.0636	10	0.20519	T	0.43	-24.9582	10.4238	0.44365	0.0:1.0:0.0:0.0	.	509	Q9NVN8	GNL3L_HUMAN	R	509	ENSP00000338573:P509R;ENSP00000354091:P509R	ENSP00000338573:P509R	P	+	2	0	GNL3L	54601673	0.626000	0.27120	0.010000	0.14722	0.004000	0.04260	1.375000	0.34295	2.218000	0.71995	0.422000	0.28245	CCT		0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		G	54584948	C	G	54584948	3	3	246	1	0	0	0	0	1	0	0	0	6538	681	24	3	1580	3	GNL3L	23	54584948	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10	39655444	54584948	100685612	42	13750											
MSN	4478	hgsc.bcm.edu	37	X	64949370	64949370	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chrX:64949370A>C	ENST00000360270.5	+	4	435	c.263A>C	c.(262-264)gAt>gCt	p.D88A		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	88	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.D88A(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						TACCCTGAGGATGTGTCCGAG	0.507			T	ALK	ALCL																																		Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Missense(1)	ovary(1)	X											120	98	105					X																	64949370		2203	4300	6503	64866095	SO:0001583	missense	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.263A>C	X.37:g.64949370A>C	ENSP00000353408:p.Asp88Ala		64866095		Missense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668386	0.88348	.	.	ENSG00000147065	ENST00000360270	D	0.84730	-1.89	5.99	5.99	0.97316	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93132	0.7813	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.94138	0.7394	10	0.72032	D	0.01	.	14.1348	0.65279	1.0:0.0:0.0:0.0	.	88	P26038	MOES_HUMAN	A	88	ENSP00000353408:D88A	ENSP00000353408:D88A	D	+	2	0	MSN	64866095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.237000	0.95368	2.025000	0.59659	0.486000	0.48141	GAT		0.507	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		C	64949370	A	C	64949370	3	2	246	1	0	0	0	0	1	0	0	0	9885	333	12	5	277	5	MSN	23	64949370	Missense_Mutation	SNP	A	TCGA-24-1557-01A-01W-0615-10	10364422	64949370	90321190	43	13751											
ERCC6L	54821	hgsc.bcm.edu	37	X	71425402	71425402	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chrX:71425402C>G	ENST00000334463.3	-	2	3350	c.3215G>C	c.(3214-3216)gGa>gCa	p.G1072A	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.G949A	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1072					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G1072A(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AAAGAACCTTCCTGGTGGACT	0.368																																																1	Substitution - Missense(1)	ovary(1)	X											77	78	78					X																	71425402		2203	4300	6503	71342127	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3215G>C	X.37:g.71425402C>G	ENSP00000334675:p.Gly1072Ala		71342127	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.429254	0.01117	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90324	-2.62;-2.65	5.58	1.09	0.20402	.	.	.	.	.	T	0.81403	0.4815	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64567	-0.6377	9	0.28530	T	0.3	-0.8078	0.6015	0.00745	0.1775:0.2603:0.1709:0.3913	.	1072	Q2NKX8	ERC6L_HUMAN	A	949;1072	ENSP00000362761:G949A;ENSP00000334675:G1072A	ENSP00000334675:G1072A	G	-	2	0	ERCC6L	71342127	0.000000	0.05858	0.008000	0.14137	0.050000	0.14768	0.476000	0.22180	0.120000	0.18254	-0.225000	0.12378	GGA		0.368	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		G	71425402	C	G	71425402	3	3	246	1	0	0	0	0	1	0	0	0	5218	855	30	3	541	3	ERCC6L	23	71425402	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10	6476032	71425402	83845158	44	13752											
NAP1L3	4675	hgsc.bcm.edu	37	X	92927561	92927561	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chrX:92927561A>T	ENST00000373079.3	-	1	1006	c.743T>A	c.(742-744)gTa>gAa	p.V248E	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.V241E|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	248	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.V248E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ATCTTCTTTTACTTCAGGGGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	X											142	137	139					X																	92927561		2203	4300	6503	92814217	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.743T>A	X.37:g.92927561A>T	ENSP00000362171:p.Val248Glu		92814217	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	A	4.844	0.156810	0.09236	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.30448	1.53	3.3	1.96	0.26148	.	0.373375	0.28730	N	0.014332	T	0.11922	0.0290	N	0.04508	-0.205	0.24235	N	0.995385	B	0.17852	0.024	B	0.18263	0.021	T	0.24693	-1.0153	10	0.23891	T	0.37	.	6.2166	0.20658	0.7134:0.0:0.0:0.2866	.	248	Q99457	NP1L3_HUMAN	E	248;241	ENSP00000362171:V248E	ENSP00000362171:V248E	V	-	2	0	NAP1L3	92814217	0.048000	0.20356	0.865000	0.33974	0.416000	0.31233	0.466000	0.22019	0.403000	0.25479	0.430000	0.28490	GTA		0.433	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		T	92927561	A	T	92927561	3	4	246	1	0	0	0	0	1	0	0	0	10158	391	14	5	781	5	NAP1L3	23	92927561	Missense_Mutation	SNP	A	TCGA-24-1557-01A-01W-0615-10	21502159	92927561	62342999	45	13753											
AGTR2	186	hgsc.bcm.edu	37	X	115304582	115304582	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chrX:115304582G>A	ENST00000371906.4	+	3	1239	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	350					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.R350Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	ATGTCTTGCCGGAAAAGCAGT	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											91	86	88					X																	115304582		2203	4300	6503	115218610	SO:0001583	missense	186			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.1049G>A	X.37:g.115304582G>A	ENSP00000360973:p.Arg350Gln		115218610	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277047	0.23307	.	.	ENSG00000180772	ENST00000371906	T	0.37584	1.19	4.87	4.87	0.63330	.	0.155918	0.40818	N	0.001015	T	0.15912	0.0383	N	0.08118	0	0.09310	N	0.999992	P	0.42908	0.793	B	0.28465	0.09	T	0.16571	-1.0398	10	0.59425	D	0.04	-4.2867	12.1014	0.53785	0.0:0.0:1.0:0.0	.	350	P50052	AGTR2_HUMAN	Q	350	ENSP00000360973:R350Q	ENSP00000360973:R350Q	R	+	2	0	AGTR2	115218610	0.993000	0.37304	0.777000	0.31699	0.389000	0.30415	4.407000	0.59754	2.243000	0.73865	0.506000	0.49869	CGG		0.438	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		A	115304582	G	A	115304582	3	1	246	1	0	0	0	0	1	0	0	0	402	1116	39	1	1051	1	AGTR2	23	115304582	Missense_Mutation	SNP	G	TCGA-24-1557-01A-01W-0615-10	22377021	115304582	39965978	46	13754											
CD99L2	83692	hgsc.bcm.edu	37	X	149938816	149938816	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1557-01A-01W-0615-10	TCGA-24-1557-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	f81ad476-ba03-404c-9b97-41603ea214c6	f3c3aecf-8fa6-4e0b-b31b-ccb258f65273	g.chrX:149938816C>T	ENST00000370377.3	-	10	799	c.682G>A	c.(682-684)Gga>Aga	p.G228R	CD99L2_ENST00000466436.1_Missense_Mutation_p.G179R|CD99L2_ENST00000355149.3_Missense_Mutation_p.G156R|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Missense_Mutation_p.G155R	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	228					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G228R(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTTCTCTCCCTTCACGTAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	X											215	126	156					X																	149938816		2203	4300	6503	149689474	SO:0001583	missense	83692			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.682G>A	X.37:g.149938816C>T	ENSP00000359403:p.Gly228Arg		149689474	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	c	16.46	3.130621	0.56828	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000437787;ENST00000466436	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.09	4.23	0.50019	.	0.192524	0.45126	N	0.000395	T	0.51907	0.1702	M	0.80982	2.52	0.80722	D	1	D;D;D;P	0.89917	1.0;0.999;1.0;0.777	D;D;D;B	0.97110	1.0;0.981;1.0;0.396	T	0.55496	-0.8132	9	.	.	.	-9.4079	13.379	0.60757	0.0:0.9215:0.0:0.0785	.	155;156;179;228	E9PD27;Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;.;C99L2_HUMAN	R	228;238;156;155;179	ENSP00000359403:G228R;ENSP00000347275:G156R;ENSP00000394858:G155R;ENSP00000417697:G179R	.	G	-	1	0	CD99L2	149689474	1.000000	0.71417	0.987000	0.45799	0.451000	0.32288	3.574000	0.53863	1.078000	0.41014	-0.251000	0.11542	GGA		0.542	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		T	149938816	C	T	149938816	3	4	246	1	0	0	0	0	1	0	0	0	3051	632	22	2	114	2	CD99L2	23	149938816	Missense_Mutation	SNP	C	TCGA-24-1557-01A-01W-0615-10	34634234	149938816	5331744	47	13755											
NOTCH2	4853	hgsc.bcm.edu	37	1	120461166	120461166	+	Missense_Mutation	SNP	C	C	T	rs200693165		TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr1:120461166C>T	ENST00000256646.2	-	32	6011	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1931					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R1931H(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCGGTTGCGAATCAGAAT	0.483			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	ovary(1)	1											71	69	70					1																	120461166		2203	4300	6503	120262689	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5792G>A	1.37:g.120461166C>T	ENSP00000256646:p.Arg1931His		120262689	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470702	0.96274	.	.	ENSG00000134250	ENST00000256646	T	0.64618	-0.11	5.76	5.76	0.90799	Ankyrin repeat-containing domain (4);	0.000000	0.38492	U	0.001670	T	0.69260	0.3091	L	0.41415	1.275	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71613	-0.4540	10	0.87932	D	0	.	18.9587	0.92670	0.0:1.0:0.0:0.0	.	1931	Q04721	NOTC2_HUMAN	H	1931	ENSP00000256646:R1931H	ENSP00000256646:R1931H	R	-	2	0	NOTCH2	120262689	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.728000	0.93425	0.655000	0.94253	CGC		0.483	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		T	120461166	C	T	120461166	3	4	247	1	0	0	0	0	1	0	0	0	10548	768	27	1	1635	1	NOTCH2	1	120461166	Missense_Mutation	SNP	C	TCGA-24-1558-01A-01W-0615-10		120461166	128789455	1	13756											
C1orf43	25912	hgsc.bcm.edu	37	1	154185044	154185044	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr1:154185044G>A	ENST00000368521.5	-	5	595	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	C1orf43_ENST00000350592.3_Missense_Mutation_p.R99C|C1orf43_ENST00000368516.1_Missense_Mutation_p.R99C|C1orf43_ENST00000362076.4_Missense_Mutation_p.R81C|C1orf43_ENST00000368518.1_Missense_Mutation_p.R133C|C1orf43_ENST00000368519.1_Missense_Mutation_p.R115C	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	133						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.R99C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					AGGTAGGAGCGGAAATTCTTG	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											70	66	67					1																	154185044		2203	4300	6503	152451668	SO:0001583	missense	25912			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.397C>T	1.37:g.154185044G>A	ENSP00000357507:p.Arg133Cys		152451668	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025765	0.54683	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	5.39	0.77823	Dehydrogenase, multihelical (1);	0.097879	0.64402	D	0.000002	T	0.43656	0.1257	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.18741	0.007;0.015;0.03;0.001;0.019	B;B;B;B;B	0.19391	0.004;0.005;0.025;0.001;0.008	T	0.47947	-0.9077	9	0.56958	D	0.05	-20.287	11.436	0.50068	0.0894:0.0:0.9106:0.0	.	115;99;133;81;99	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	C	99;133;81;115;133;99	.	ENSP00000271925:R99C	R	-	1	0	C1orf43	152451668	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.492000	0.53259	2.814000	0.96858	0.585000	0.79938	CGC		0.468	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		A	154185044	G	A	154185044	3	1	247	1	0	0	0	0	1	0	0	0	2040	1116	39	1	376	1	C1orf43	1	154185044	Missense_Mutation	SNP	G	TCGA-24-1558-01A-01W-0615-10	33723878	154185044	95065577	2	13757											
NTRK1	4914	hgsc.bcm.edu	37	1	156851381	156851381	+	Missense_Mutation	SNP	C	C	G	rs537948663		TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr1:156851381C>G	ENST00000524377.1	+	17	2379	c.2338C>G	c.(2338-2340)Cgg>Ggg	p.R780G	NTRK1_ENST00000392302.2_Missense_Mutation_p.R744G|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000368196.3_Missense_Mutation_p.R774G|NTRK1_ENST00000358660.3_Missense_Mutation_p.R777G	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	780	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> P (in CIPA; loss of function; dbSNP:rs35669708). {ECO:0000269|PubMed:10090906}.|R -> Q (in dbSNP:rs35669708). {ECO:0000269|PubMed:10443680, ECO:0000269|PubMed:17344846}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R780G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGTGCACGCCCGGCTGCAAGC	0.692			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	1	Substitution - Missense(1)	ovary(1)	1											24	25	24					1																	156851381		2202	4297	6499	155118005	SO:0001583	missense	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2338C>G	1.37:g.156851381C>G	ENSP00000431418:p.Arg780Gly		155118005	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	9.343	1.063439	0.20067	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.01	2.1	0.27182	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.109267	0.41097	D	0.000949	T	0.69663	0.3136	M	0.64404	1.975	0.09310	N	0.999997	B;B;P;P	0.42161	0.293;0.249;0.756;0.772	B;B;B;P	0.47981	0.425;0.203;0.282;0.563	T	0.61695	-0.7010	10	0.21014	T	0.42	.	7.1091	0.25380	0.4393:0.482:0.0:0.0787	.	777;774;780;744	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	G	744;774;780;777	ENSP00000376120:R744G;ENSP00000357179:R774G;ENSP00000431418:R780G;ENSP00000351486:R777G	ENSP00000351486:R777G	R	+	1	2	NTRK1	155118005	0.000000	0.05858	0.038000	0.18304	0.058000	0.15608	0.566000	0.23593	0.287000	0.22375	-0.152000	0.13540	CGG		0.692	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		G	156851381	C	G	156851381	3	3	247	1	0	0	0	0	1	0	0	0	10706	643	23	3	2534	3	NTRK1	1	156851381	Missense_Mutation	SNP	C	TCGA-24-1558-01A-01W-0615-10	2666337	156851381	92399240	3	13758											
PRRX1	5396	hgsc.bcm.edu	37	1	170695481	170695481	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr1:170695481G>A	ENST00000239461.6	+	3	851	c.538G>A	c.(538-540)Gta>Ata	p.V180I	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.V180I|PRRX1_ENST00000367760.3_Missense_Mutation_p.V180I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	180					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.V180I(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAGCCCATCGTACCTCGTCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											108	96	100					1																	170695481		2203	4300	6503	168962105	SO:0001583	missense	5396			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.538G>A	1.37:g.170695481G>A	ENSP00000239461:p.Val180Ile		168962105	B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607788	0.66558	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	D;D;D;T	0.91464	-2.81;-2.85;-2.77;-1.2	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.91392	0.7284	L	0.60455	1.87	0.50171	D	0.999858	D;D	0.55605	0.968;0.972	P;P	0.56343	0.796;0.467	D	0.90050	0.4148	10	0.36615	T	0.2	.	17.7361	0.88394	0.0:0.0:1.0:0.0	.	180;180	P54821;P54821-2	PRRX1_HUMAN;.	I	180;180;180;25;25	ENSP00000356734:V180I;ENSP00000239461:V180I;ENSP00000450762:V180I;ENSP00000451225:V25I	ENSP00000239461:V180I	V	+	1	0	PRRX1	168962105	1.000000	0.71417	0.984000	0.44739	0.979000	0.70002	9.214000	0.95140	2.533000	0.85409	0.650000	0.86243	GTA		0.562	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		A	170695481	G	A	170695481	3	1	247	1	0	0	0	0	1	0	0	0	12615	1145	40	1	548	1	PRRX1	1	170695481	Missense_Mutation	SNP	G	TCGA-24-1558-01A-01W-0615-10	13844100	170695481	78555140	4	13759											
IL19	29949	hgsc.bcm.edu	37	1	207015914	207015914	+	Missense_Mutation	SNP	G	G	A	rs144719259		TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr1:207015914G>A	ENST00000270218.6	+	7	1420	c.481G>A	c.(481-483)Gac>Aac	p.D161N	IL19_ENST00000340758.2_Missense_Mutation_p.D199N	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	161					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.D161N(1)		central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GGGAGAGCTCGACGTCTTTCT	0.458																																																1	Substitution - Missense(1)	ovary(1)	1						G	ASN/ASP,ASN/ASP	0,4404		0,0,2202	56	54	55		481,595	0.9	0	1	dbSNP_134	55	2,8596		0,2,4297	yes	missense,missense	IL19	NM_013371.3,NM_153758.2	23,23	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	161/178,199/216	207015914	2,13000	2202	4299	6501	205082537	SO:0001583	missense	29949			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.481G>A	1.37:g.207015914G>A	ENSP00000270218:p.Asp161Asn		205082537	B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000270218.6	37	CCDS1469.1	.	.	.	.	.	.	.	.	.	.	G	6.114	0.389211	0.11581	0.0	2.33E-4	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.34072	1.38;1.38	5.38	0.917	0.19380	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.143337	0.64402	N	0.000009	T	0.24044	0.0582	L	0.33792	1.035	0.09310	N	1	B;B	0.18461	0.028;0.028	B;B	0.16722	0.016;0.016	T	0.15838	-1.0423	10	0.48119	T	0.1	.	7.7784	0.29051	0.4024:0.0:0.5976:0.0	.	161;199	Q9UHD0;Q5VUT3	IL19_HUMAN;.	N	199;161	ENSP00000343000:D199N;ENSP00000270218:D161N	ENSP00000270218:D161N	D	+	1	0	IL19	205082537	0.051000	0.20477	0.000000	0.03702	0.004000	0.04260	0.698000	0.25571	-0.044000	0.13491	-0.734000	0.03567	GAC		0.458	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		A	207015914	G	A	207015914	3	1	247	1	0	0	0	0	1	0	0	0	7649	1058	37	1	617	1	IL19	1	207015914	Missense_Mutation	SNP	G	TCGA-24-1558-01A-01W-0615-10	36320433	207015914	42234707	5	13760											
NUP210	23225	hgsc.bcm.edu	37	3	13364842	13364842	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr3:13364842C>A	ENST00000254508.5	-	34	4817	c.4735G>T	c.(4735-4737)Gtt>Ttt	p.V1579F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1579					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.V1579F(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCCACGGCAACAATCACTTTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	3											135	137	136					3																	13364842		2203	4300	6503	13339842	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4735G>T	3.37:g.13364842C>A	ENSP00000254508:p.Val1579Phe		13339842	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610537	0.28712	.	.	ENSG00000132182	ENST00000254508	T	0.06371	3.31	5.54	2.37	0.29283	.	0.389332	0.26919	N	0.021834	T	0.08447	0.0210	M	0.72118	2.19	0.18873	N	0.999988	P	0.43826	0.818	B	0.39465	0.3	T	0.17018	-1.0383	10	0.54805	T	0.06	-16.9407	7.6532	0.28360	0.0:0.6925:0.0:0.3075	.	1579	Q8TEM1	PO210_HUMAN	F	1579	ENSP00000254508:V1579F	ENSP00000254508:V1579F	V	-	1	0	NUP210	13339842	0.015000	0.18098	0.001000	0.08648	0.770000	0.43624	0.145000	0.16157	0.233000	0.21120	0.655000	0.94253	GTT		0.587	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13364842	C	A	13364842	3	1	247	1	0	0	0	0	1	0	0	0	10760	478	17	3	956	3	NUP210	3	13364842	Missense_Mutation	SNP	C	TCGA-24-1558-01A-01W-0615-10		13364842	184657588	6	13761											
SLC4A7	9497	hgsc.bcm.edu	37	3	27490241	27490241	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr3:27490241T>A	ENST00000295736.5	-	3	233	c.163A>T	c.(163-165)Agt>Tgt	p.S55C	SLC4A7_ENST00000454389.1_Missense_Mutation_p.S64C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S60C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S60C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S55C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S64C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S64C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S64C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S60C|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S60C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	55					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S55C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CGCCGACGACTCTCTTTACTA	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											177	157	164					3																	27490241		2203	4300	6503	27465245	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.163A>T	3.37:g.27490241T>A	ENSP00000295736:p.Ser55Cys		27465245	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999179	0.74818	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.18;-1.22;-1.19;-1.27;-1.22;-1.27;-1.22;-1.27;-1.22;0.22;-1.21	5.56	3.19	0.36642	.	0.126114	0.64402	D	0.000001	D	0.85366	0.5680	M	0.82923	2.615	0.29249	N	0.87209	D;D;D;D;P;D;D;P;D	0.63880	0.966;0.981;0.966;0.975;0.948;0.993;0.989;0.948;0.967	P;P;P;P;B;P;D;B;P	0.63381	0.599;0.823;0.599;0.599;0.387;0.886;0.914;0.293;0.713	T	0.80296	-0.1442	10	0.72032	D	0.01	.	8.2073	0.31463	0.0:0.2787:0.0:0.7213	.	64;60;60;64;64;60;55;55;60	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	55;55;64;64;60;60;60;64;64;60;55	ENSP00000295736:S55C;ENSP00000416368:S55C;ENSP00000390394:S64C;ENSP00000414797:S64C;ENSP00000394252:S60C;ENSP00000406605:S60C;ENSP00000407382:S60C;ENSP00000406804:S64C;ENSP00000395336:S64C;ENSP00000401949:S60C;ENSP00000388703:S55C	ENSP00000295736:S55C	S	-	1	0	SLC4A7	27465245	0.934000	0.31675	1.000000	0.80357	0.995000	0.86356	1.527000	0.35975	0.407000	0.25591	0.528000	0.53228	AGT		0.403	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		A	27490241	T	A	27490241	3	1	247	1	0	0	0	0	1	0	0	0	14661	1551	54	5	3573	5	SLC4A7	3	27490241	Missense_Mutation	SNP	T	TCGA-24-1558-01A-01W-0615-10	14125399	27490241	170532189	7	13762											
TKT	7086	hgsc.bcm.edu	37	3	53263350	53263350	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr3:53263350C>T	ENST00000462138.1	-	9	1298	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	TKT_ENST00000296289.6_Missense_Mutation_p.A357T|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.A412T|TKT_ENST00000423525.2_Missense_Mutation_p.A404T			P29401	TKT_HUMAN	transketolase	404					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)	p.A404T(2)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TCGGAGATGGCGGCCATGCGA	0.597																																					Colon(133;1506 2347 35238 42177)											2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	3											57	52	54					3																	53263350		2203	4300	6503	53238390	SO:0001583	missense	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1210G>A	3.37:g.53263350C>T	ENSP00000417773:p.Ala404Thr		53238390	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184313	0.94885	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.33	5.33	0.75918	Transketolase-like, pyrimidine-binding domain (2);	0.101142	0.64402	D	0.000003	D	0.96864	0.8976	H	0.94925	3.6	0.80722	D	1	D;D;D	0.71674	0.998;0.99;0.99	P;P;P	0.59012	0.85;0.804;0.69	D	0.97779	1.0231	10	0.72032	D	0.01	-28.8054	19.0493	0.93036	0.0:1.0:0.0:0.0	.	412;321;404	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	T	404;404;412;357;238	ENSP00000417773:A404T;ENSP00000405455:A404T;ENSP00000391481:A412T;ENSP00000296289:A357T	ENSP00000296289:A357T	A	-	1	0	TKT	53238390	1.000000	0.71417	0.950000	0.38849	0.820000	0.46376	6.079000	0.71291	2.490000	0.84030	0.655000	0.94253	GCC		0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			T	53263350	C	T	53263350	3	4	247	1	0	0	0	0	1	0	0	0	15934	768	27	1	685	1	TKT	3	53263350	Missense_Mutation	SNP	C	TCGA-24-1558-01A-01W-0615-10	25773109	53263350	144759080	8	13763											
HIST1H4E	8367	hgsc.bcm.edu	37	6	26205070	26205070	+	Silent	SNP	G	G	C	rs145407769	byFrequency	TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr6:26205070G>C	ENST00000360441.4	+	1	213	c.198G>C	c.(196-198)gtG>gtC	p.V66V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V66V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TGGAAAACGTGATTCGTGATG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	6						G		1,4405		0,1,2202	140	125	130		198	-2.3	0.6	6	dbSNP_134	130	2,8598		0,2,4298	no	coding-synonymous	HIST1H4E	NM_003545.3		0,3,6500	CC,CG,GG		0.0233,0.0227,0.0231		66/104	26205070	3,13003	2203	4300	6503	26313049	SO:0001819	synonymous_variant	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.198G>C	6.37:g.26205070G>C			26313049	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000360441.4	37	CCDS4593.1																																																																																				0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		C	26205070	G	C	26205070	2	2	247	1	0	0	0	0	0	0	0	1	7169	1277	45	3		3	HIST1H4E	6	26205070	Silent	SNP	G	TCGA-24-1558-01A-01W-0615-10		26205070	144909997	9	13764											
GLI3	2737	hgsc.bcm.edu	37	7	42064966	42064966	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr7:42064966G>A	ENST00000395925.3	-	9	1337	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	418					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T418M(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGACTCACTCGTGGGCTTGTT	0.527									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							1	Substitution - Missense(1)	ovary(1)	7											127	106	113					7																	42064966		2203	4300	6503	42031491	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1253C>T	7.37:g.42064966G>A	ENSP00000379258:p.Thr418Met		42031491	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545413	0.86022	.	.	ENSG00000106571	ENST00000395925	T	0.70869	-0.52	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.83190	-0.0084	10	0.72032	D	0.01	.	19.7525	0.96273	0.0:0.0:1.0:0.0	.	418	P10071	GLI3_HUMAN	M	418	ENSP00000379258:T418M	ENSP00000379258:T418M	T	-	2	0	GLI3	42031491	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	7.639000	0.83342	2.669000	0.90835	0.591000	0.81541	ACG		0.527	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		A	42064966	G	A	42064966	3	1	247	1	0	0	0	0	1	0	0	0	6439	1145	40	1	3517	1	GLI3	7	42064966	Missense_Mutation	SNP	G	TCGA-24-1558-01A-01W-0615-10		42064966	117073697	10	13765											
SMARCA2	6595	hgsc.bcm.edu	37	9	2054620	2054620	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr9:2054620G>T	ENST00000382203.1	+	6	1279	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R357M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R357M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R357M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	357					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R353M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATAGCTCATAGGATACAAGAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											99	109	106					9																	2054620		2203	4300	6503	2044620	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1070G>T	9.37:g.2054620G>T	ENSP00000371638:p.Arg357Met		2044620	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254800	0.95336	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.91577	-2.83;-2.87;2.54;-2.83;-2.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95758	0.8620	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.993	D	0.95521	0.8594	10	0.87932	D	0	-32.2181	20.3334	0.98727	0.0:0.0:1.0:0.0	.	357;357	P51531-2;P51531	.;SMCA2_HUMAN	M	357	ENSP00000265773:R357M;ENSP00000349788:R357M;ENSP00000392081:R357M;ENSP00000371638:R357M;ENSP00000371629:R357M	ENSP00000265773:R357M	R	+	2	0	SMARCA2	2044620	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.813000	0.99286	2.818000	0.97014	0.591000	0.81541	AGG		0.408	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		T	2054620	G	T	2054620	3	4	247	1	0	0	0	0	1	0	0	0	14772	1000	35	3	1088	3	SMARCA2	9	2054620	Missense_Mutation	SNP	G	TCGA-24-1558-01A-01W-0615-10		2054620	139158811	11	13766											
GABBR2	9568	hgsc.bcm.edu	37	9	101216465	101216467	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	TTG	TTG	TTG	-	TTG	TTG	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr9:101216465_101216467delTTG	ENST00000259455.2	-	7	1491_1493	c.1032_1034delCAA	c.(1030-1035)aacaag>aag	p.N344del		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	344					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.N344del(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCCTGACCGCTTGTTGTTGTACT	0.571																																																1	Deletion - In frame(1)	ovary(1)	9																																								100256288	SO:0001651	inframe_deletion	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1032_1034delCAA	9.37:g.101216471_101216473delTTG	ENSP00000259455:p.Asn344del		100256286	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	In_Frame_Del	DEL	ENST00000259455.2	37	CCDS6736.1																																																																																				0.571	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			-	101216467	TTG	-	101216465	7	5	247	1	0	1	0	1	0	0	0	0	6156	1609	56	0	1843	0	GABBR2	9	101216465	In_Frame_Del	DEL	TTG	TCGA-24-1558-01A-01W-0615-10	99161845	101216465	39996966	12	13767											
NDST2	8509	hgsc.bcm.edu	37	10	75563695	75563695	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr10:75563695C>A	ENST00000309979.6	-	10	2479	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.E641D|NDST2_ENST00000299641.4_Missense_Mutation_p.E518D			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	641	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.E641D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGAACTGAATCTCCTCAAATG	0.488																																																1	Substitution - Missense(1)	ovary(1)	10											152	150	151					10																	75563695		2203	4300	6503	75233701	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1923G>T	10.37:g.75563695C>A	ENSP00000310657:p.Glu641Asp		75233701	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436435	0.83885	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.66460	-0.21;-0.21	5.95	5.04	0.67666	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.87051	0.6081	H	0.95816	3.725	0.80722	D	1	P;D;D;D	0.89917	0.953;1.0;0.999;0.982	D;D;D;D	0.97110	0.984;1.0;0.992;0.986	D	0.91076	0.4896	10	0.87932	D	0	.	15.5396	0.76031	0.0:0.9332:0.0:0.0668	.	518;311;164;641	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	D	641;518	ENSP00000310657:E641D;ENSP00000299641:E518D	ENSP00000299641:E518D	E	-	3	2	NDST2	75233701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.365000	0.52335	1.498000	0.48600	0.655000	0.94253	GAG		0.488	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		A	75563695	C	A	75563695	3	1	247	1	0	0	0	0	1	0	0	0	10256	912	32	3	752	3	NDST2	10	75563695	Missense_Mutation	SNP	C	TCGA-24-1558-01A-01W-0615-10		75563695	59971052	13	13768											
LRRC27	80313	hgsc.bcm.edu	37	10	134175056	134175056	+	Silent	SNP	G	G	A	rs373107236		TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr10:134175056G>A	ENST00000368614.3	+	9	1371	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	LRRC27_ENST00000368613.4_Silent_p.S422S|LRRC27_ENST00000432555.2_Silent_p.S295S|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Silent_p.S360S|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368610.3_Silent_p.S360S	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	422								p.S422S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AAGAGAAATCGCCACAAGCAA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	10						A	,	1,4405	2.1+/-5.4	0,1,2202	112	117	115		1266,1266	-6.7	0	10		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRC27	NM_001143757.1,NM_030626.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	422/531,422/531	134175056	2,13004	2203	4300	6503	134025046	SO:0001819	synonymous_variant	80313			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1266G>A	10.37:g.134175056G>A			134025046	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Silent	SNP	ENST00000368614.3	37	CCDS31316.1																																																																																				0.483	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		A	134175056	G	A	134175056	2	1	247	1	0	0	0	0	0	0	0	1	8981	1074	38	1		1	LRRC27	10	134175056	Silent	SNP	G	TCGA-24-1558-01A-01W-0615-10	58611361	134175056	1359691	14	13769											
MUC15	143662	hgsc.bcm.edu	37	11	26584679	26584679	+	Silent	SNP	G	G	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr11:26584679G>A	ENST00000455601.2	-	3	946	c.828C>T	c.(826-828)gaC>gaT	p.D276D	MUC15_ENST00000529533.1_Silent_p.D303D|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000436318.2_Silent_p.D303D|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	276					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D276D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CATTTCTGTCGTCATAAAGTC	0.408																																																2	Substitution - coding silent(2)	ovary(1)|central_nervous_system(1)	11											91	92	91					11																	26584679		2203	4300	6503	26541255	SO:0001819	synonymous_variant	143662			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.828C>T	11.37:g.26584679G>A			26541255	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	CCDS7859.1																																																																																				0.408	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		A	26584679	G	A	26584679	2	1	247	1	0	0	0	0	0	0	0	1	9972	1136	40	1		1	MUC15	11	26584679	Silent	SNP	G	TCGA-24-1558-01A-01W-0615-10		26584679	108421837	15	13770											
OR5B2	390190	hgsc.bcm.edu	37	11	58189993	58189993	+	Missense_Mutation	SNP	C	C	T	rs140238243		TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr11:58189993C>T	ENST00000302581.2	-	1	793	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248I(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCATAGAAGACGGAGACTGCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	11						T	ILE/VAL	0,4402		0,0,2201	127	116	119		742	2.5	0	11	dbSNP_134	119	2,8588	818.7+/-406.8	0,2,4293	yes	missense	OR5B2	NM_001005566.2	29	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	248/310	58189993	2,12990	2201	4295	6496	57946569	SO:0001583	missense	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.742G>A	11.37:g.58189993C>T	ENSP00000303076:p.Val248Ile		57946569	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.602748	0.00123	0.0	2.33E-4	ENSG00000172365	ENST00000302581	T	0.00063	8.78	3.73	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	N	0.002757	T	0.00039	0.0001	N	0.00280	-1.71	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38178	-0.9673	10	0.02654	T	1	-5.8228	5.6098	0.17398	0.0:0.0958:0.3248:0.5793	.	248	Q96R09	OR5B2_HUMAN	I	248	ENSP00000303076:V248I	ENSP00000303076:V248I	V	-	1	0	OR5B2	57946569	0.000000	0.05858	0.027000	0.17364	0.169000	0.22640	-0.980000	0.03770	0.134000	0.18681	-0.352000	0.07741	GTC		0.468	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		T	58189993	C	T	58189993	3	4	247	1	0	0	0	0	1	0	0	0	11150	536	19	1	191	1	OR5B2	11	58189993	Missense_Mutation	SNP	C	TCGA-24-1558-01A-01W-0615-10	31605314	58189993	76816523	16	13771											
SLCO1C1	53919	hgsc.bcm.edu	37	12	20868200	20868200	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr12:20868200C>A	ENST00000266509.2	+	6	1025	c.657C>A	c.(655-657)gaC>gaA	p.D219E	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.D219E|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D101E|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D219E	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	219					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D219E(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCAGTGAAGACAATGCAGCTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	12											160	142	148					12																	20868200		2203	4300	6503	20759467	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.657C>A	12.37:g.20868200C>A	ENSP00000266509:p.Asp219Glu		20759467	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	2.610	-0.290997	0.05568	.	.	ENSG00000139155	ENST00000545604;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T	0.79653	0.42;0.42;0.42;-1.29	4.99	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.167851	0.52532	D	0.000065	T	0.43010	0.1228	N	0.00419	-1.52	0.33188	D	0.550446	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.54675	-0.8258	10	0.02654	T	1	.	9.1799	0.37134	0.0:0.7184:0.1952:0.0864	.	101;219;219	F5GZD6;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	E	219;219;219;101	ENSP00000444149:D219E;ENSP00000266509:D219E;ENSP00000370964:D219E;ENSP00000444527:D101E	ENSP00000266509:D219E	D	+	3	2	SLCO1C1	20759467	0.839000	0.29477	1.000000	0.80357	0.998000	0.95712	-0.073000	0.11468	2.473000	0.83533	0.563000	0.77884	GAC		0.408	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		A	20868200	C	A	20868200	3	1	247	1	0	0	0	0	1	0	0	0	14728	477	17	3	675	3	SLCO1C1	12	20868200	Missense_Mutation	SNP	C	TCGA-24-1558-01A-01W-0615-10		20868200	112983695	17	13772											
MYO1A	4640	hgsc.bcm.edu	37	12	57430806	57430806	+	Nonsense_Mutation	SNP	G	G	A	rs185972678		TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr12:57430806G>A	ENST00000442789.2	-	21	2412	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R709*|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R547*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	709	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R709*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CGCCAGCCTCGGTAAATCTTC	0.552													G|||	1	0.000199681	0	0.0014	5008	,	,		16797	0		0	False		,,,				2504	0															1	Substitution - Nonsense(1)	ovary(1)	12											88	92	91					12																	57430806		2203	4300	6503	55717073	SO:0001587	stop_gained	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2125C>T	12.37:g.57430806G>A	ENSP00000393392:p.Arg709*		55717073	Q9UQD7	Nonsense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	41	9.144032	0.99080	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	.	.	.	5.46	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4372	0.61090	0.0:0.0:0.8419:0.1581	.	.	.	.	X	709;709;547	.	ENSP00000300119:R709X	R	-	1	2	MYO1A	55717073	1.000000	0.71417	0.984000	0.44739	0.943000	0.58893	1.320000	0.33666	1.292000	0.44672	0.563000	0.77884	CGA		0.552	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		A	57430806	G	A	57430806	4	1	247	1	0	0	0	0	0	1	0	0	10068	1124	39	1	1042	1	MYO1A	12	57430806	Nonsense_Mutation	SNP	G	TCGA-24-1558-01A-01W-0615-10	36562606	57430806	76421089	18	13773											
ADAMTSL3	57188	hgsc.bcm.edu	37	15	84651581	84651581	+	Silent	SNP	A	A	T			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr15:84651581A>T	ENST00000286744.5	+	21	3425	c.3201A>T	c.(3199-3201)gcA>gcT	p.A1067A	ADAMTSL3_ENST00000567476.1_Silent_p.A1067A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1067						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A1067A(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCAATTCTGCAGGAAGCACCA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	15											68	69	69					15																	84651581		2203	4300	6503	82442585	SO:0001819	synonymous_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3201A>T	15.37:g.84651581A>T			82442585	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																				0.433	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		T	84651581	A	T	84651581	2	4	247	1	0	0	0	0	0	0	0	1	276	175	7	5		5	ADAMTSL3	15	84651581	Silent	SNP	A	TCGA-24-1558-01A-01W-0615-10		84651581	17879811	19	13774											
NTRK3	4916	hgsc.bcm.edu	37	15	88423602	88423602	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr15:88423602G>A	ENST00000360948.2	-	18	2394	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W	NTRK3_ENST00000557856.1_Missense_Mutation_p.R723W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R731W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R737W|NTRK3_ENST00000394480.2_Missense_Mutation_p.R731W	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> P (in a lung carcinoma sample; somatic mutation). {ECO:0000269|PubMed:18293376}.		activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R731W(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGAACTTCCGGTACATGATG	0.522			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	1	Substitution - Missense(1)	ovary(1)	15											115	96	103					15																	88423602		2201	4299	6500	86224606	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2233C>T	15.37:g.88423602G>A	ENSP00000354207:p.Arg745Trp		86224606	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827365	0.71143	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.34	3.23	0.37069	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	L	0.42686	1.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.87510	0.2439	10	0.87932	D	0	.	12.5107	0.56003	0.0:0.0:0.5812:0.4188	.	723;731;745	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	W	731;745;737;731	ENSP00000377990:R731W;ENSP00000354207:R745W;ENSP00000350356:R737W;ENSP00000347397:R731W	ENSP00000347397:R731W	R	-	1	2	NTRK3	86224606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.140000	0.31516	1.223000	0.43536	0.655000	0.94253	CGG		0.522	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88423602	G	A	88423602	3	1	247	1	0	0	0	0	1	0	0	0	10708	1115	39	1	294	1	NTRK3	15	88423602	Missense_Mutation	SNP	G	TCGA-24-1558-01A-01W-0615-10	3772021	88423602	14107790	20	13775											
NOMO2	283820	hgsc.bcm.edu	37	16	18549971	18549971	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr16:18549971C>T	ENST00000381474.3	-	11	1162	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	NOMO2_ENST00000543392.1_Missense_Mutation_p.R199H|NOMO2_ENST00000330537.6_Missense_Mutation_p.R366H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	366						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R366H(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GTTCTCAAGGCGGAATGAGCC	0.408																																																1	Substitution - Missense(1)	ovary(1)	16											23	18	20					16																	18549971		1566	3239	4805	18457472	SO:0001583	missense	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1097G>A	16.37:g.18549971C>T	ENSP00000370883:p.Arg366His		18457472	Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	19.40	3.819943	0.71028	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.48522	0.81;0.81;0.81	2.57	2.57	0.30868	Carbohydrate-binding-like fold (1);Domain of unknown function DUF2012 (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.69823	2.125	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.55713	0.782;0.782	T	0.62115	-0.6922	10	0.44086	T	0.13	-11.9064	12.4834	0.55856	0.0:1.0:0.0:0.0	.	199;366	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	366;366;199	ENSP00000331851:R366H;ENSP00000370883:R366H;ENSP00000439970:R199H	ENSP00000331851:R366H	R	-	2	0	NOMO2	18457472	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.294000	0.78760	1.416000	0.47057	0.400000	0.26472	CGC		0.408	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		T	18549971	C	T	18549971	3	4	247	1	0	0	0	0	1	0	0	0	10532	768	27	1	2798	1	NOMO2	16	18549971	Missense_Mutation	SNP	C	TCGA-24-1558-01A-01W-0615-10		18549971	71804782	21	13776											
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	247	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-24-1558-01A-01W-0615-10		7577120	73618090	22	13777											
MYH4	4622	hgsc.bcm.edu	37	17	10358096	10358096	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01A-01W-0615-10	TCGA-24-1558-10A-01W-0615-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2e06de96-fd7c-4630-b8f8-a77bf08b624e	6eb8ac17-31b7-4902-9ef5-9f4da477856c	g.chr17:10358096G>A	ENST00000255381.2	-	22	2577	c.2467C>T	c.(2467-2469)Cgt>Tgt	p.R823C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	823					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R823C(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGAAAGCACGGATGTTGTAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	17											131	114	120					17																	10358096		2203	4300	6503	10298821	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2467C>T	17.37:g.10358096G>A	ENSP00000255381:p.Arg823Cys		10298821		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979451	0.74360	.	.	ENSG00000141048	ENST00000255381	D	0.87029	-2.2	5.17	5.17	0.71159	.	0.000000	0.37955	U	0.001863	D	0.96411	0.8829	H	0.98682	4.3	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.98038	1.0380	10	0.87932	D	0	.	19.0309	0.92957	0.0:0.0:1.0:0.0	.	823	Q9Y623	MYH4_HUMAN	C	823	ENSP00000255381:R823C	ENSP00000255381:R823C	R	-	1	0	MYH4	10298821	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	6.484000	0.73621	2.567000	0.86603	0.467000	0.42956	CGT		0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10358096	G	A	10358096	3	1	247	1	0	0	0	0	1	0	0	0	10037	1116	39	1	3428	1	MYH4	17	10358096	Missense_Mutation	SNP	G	TCGA-24-1558-01A-01W-0615-10	2780976	10358096	70837114	23	13778											
LRRC47	57470	hgsc.bcm.edu	37	1	3697735	3697735	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr1:3697735C>A	ENST00000378251.1	-	7	1696	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	557							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.D557Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CCTTCCAGATCCACCACCCGG	0.647																																																1	Substitution - Missense(1)	ovary(1)	1											75	77	76					1																	3697735		2203	4300	6503	3687595	SO:0001583	missense	57470			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1669G>T	1.37:g.3697735C>A	ENSP00000367498:p.Asp557Tyr		3687595	Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	CCDS51.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670867	0.88348	.	.	ENSG00000130764	ENST00000378251	T	0.60548	0.18	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.76394	-0.2975	10	0.87932	D	0	-55.8442	17.3879	0.87422	0.0:1.0:0.0:0.0	.	557	Q8N1G4	LRC47_HUMAN	Y	557	ENSP00000367498:D557Y	ENSP00000367498:D557Y	D	-	1	0	LRRC47	3687595	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.156000	0.77453	2.348000	0.79779	0.591000	0.81541	GAT		0.647	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		A	3697735	C	A	3697735	3	1	248	1	0	0	0	0	1	0	0	0	9004	855	30	3	86	3	LRRC47	1	3697735	Missense_Mutation	SNP	C	TCGA-24-1560-01A-01W-0615-10		3697735	245552886	1	13779											
FLG	2312	hgsc.bcm.edu	37	1	152286387	152286387	+	Silent	SNP	C	C	T	rs146115338	byFrequency	TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr1:152286387C>T	ENST00000368799.1	-	3	1010	c.975G>A	c.(973-975)gcG>gcA	p.A325A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	325	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A325A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCTCCCACGCAGATCCAT	0.567									Ichthyosis				-|||	22	0.00439297	0	0	5008	,	,		18767	0.0179		0	False		,,,				2504	0.0041															1	Substitution - coding silent(1)	ovary(1)	1						C		0,4406		0,0,2203	183	187	186		975	-4.8	0	1	dbSNP_134	186	1,8599		0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		325/4062	152286387	1,13005	2203	4300	6503	150553011	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.975G>A	1.37:g.152286387C>T			150553011	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152286387	C	T	152286387	2	4	248	1	0	0	0	0	0	0	0	1	5922	523	19	1		1	FLG	1	152286387	Silent	SNP	C	TCGA-24-1560-01A-01W-0615-10	148588652	152286387	96964234	2	13780											
THBS3	7059	hgsc.bcm.edu	37	1	155167871	155167871	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr1:155167871C>G	ENST00000368378.3	-	18	2235	c.2215G>C	c.(2215-2217)Gat>Cat	p.D739H	THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.D268H|THBS3_ENST00000541576.1_Missense_Mutation_p.D136H|MIR92B_ENST00000607575.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D619H|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	739	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D739H(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			ATCTGAGCATCACCCTCAGGA	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											123	103	110					1																	155167871		2203	4300	6503	153434495	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2215G>C	1.37:g.155167871C>G	ENSP00000357362:p.Asp739His		153434495	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059571	0.76074	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.08	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	M	0.84511	2.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73708	0.922;0.981;0.932;0.981	D	0.95444	0.8528	10	0.87932	D	0	-19.0798	15.9977	0.80265	0.0:1.0:0.0:0.0	.	619;739;739;739	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	H	739;136;619;268	ENSP00000357362:D739H;ENSP00000444792:D136H;ENSP00000392207:D619H;ENSP00000437353:D268H	ENSP00000357362:D739H	D	-	1	0	THBS3	153434495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.639000	0.89480	0.563000	0.77884	GAT		0.587	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		G	155167871	C	G	155167871	3	3	248	1	0	0	0	0	1	0	0	0	15855	826	29	3	679	3	THBS3	1	155167871	Missense_Mutation	SNP	C	TCGA-24-1560-01A-01W-0615-10	2881484	155167871	94082750	3	13781											
AGBL5	60509	hgsc.bcm.edu	37	2	27275887	27275887	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr2:27275887C>A	ENST00000360131.4	+	2	220	c.61C>A	c.(61-63)Cac>Aac	p.H21N	AGBL5_ENST00000323064.8_Missense_Mutation_p.H21N|AGBL5-AS1_ENST00000444217.1_RNA|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	21					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.H21N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATCTAGCCCACGTGGAGAA	0.587																																																1	Substitution - Missense(1)	ovary(1)	2											85	79	81					2																	27275887		2203	4300	6503	27129391	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.61C>A	2.37:g.27275887C>A	ENSP00000353249:p.His21Asn		27129391	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071389	0.36566	.	.	ENSG00000084693	ENST00000421915;ENST00000453161;ENST00000451003;ENST00000323064;ENST00000360131;ENST00000437006	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.06	5.06	0.68205	.	0.049706	0.85682	D	0.000000	T	0.81664	0.4870	N	0.17082	0.46	0.30727	N	0.747592	D;D;D	0.58970	0.984;0.981;0.981	P;P;P	0.48552	0.53;0.501;0.581	T	0.82030	-0.0659	10	0.51188	T	0.08	-0.136	13.0719	0.59066	0.1607:0.8393:0.0:0.0	.	21;21;21	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	N	21	ENSP00000395266:H21N;ENSP00000394730:H21N;ENSP00000407584:H21N;ENSP00000323681:H21N;ENSP00000353249:H21N	ENSP00000323681:H21N	H	+	1	0	AGBL5	27129391	0.988000	0.35896	0.998000	0.56505	0.951000	0.60555	2.446000	0.44908	2.342000	0.79632	0.561000	0.74099	CAC		0.587	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		A	27275887	C	A	27275887	3	1	248	1	0	0	0	0	1	0	0	0	378	594	21	3	63	3	AGBL5	2	27275887	Missense_Mutation	SNP	C	TCGA-24-1560-01A-01W-0615-10		27275887	215923486	4	13782											
NRBP1	29959	hgsc.bcm.edu	37	2	27662705	27662705	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr2:27662705G>C	ENST00000233557.3	+	12	1808	c.976G>C	c.(976-978)Gca>Cca	p.A326P	NRBP1_ENST00000379863.3_Missense_Mutation_p.A334P|NRBP1_ENST00000379852.3_Missense_Mutation_p.A326P|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.A326P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTTCCACCCAGCATTGTTTGA	0.517																																																1	Substitution - Missense(1)	ovary(1)	2											126	126	126					2																	27662705		2203	4300	6503	27516209	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.976G>C	2.37:g.27662705G>C	ENSP00000233557:p.Ala326Pro		27516209	B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515442	0.96402	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.74002	-0.8;-0.8;-0.8	5.53	5.53	0.82687	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	L	0.42245	1.32	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.67725	0.95;0.921;0.953	T	0.82983	-0.0186	10	0.66056	D	0.02	-12.9107	18.0038	0.89204	0.0:0.0:1.0:0.0	.	306;334;326	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	P	326;306;326;334	ENSP00000233557:A326P;ENSP00000369181:A326P;ENSP00000369192:A334P	ENSP00000233557:A326P	A	+	1	0	NRBP1	27516209	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.610000	0.88304	0.655000	0.94253	GCA		0.517	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		C	27662705	G	C	27662705	3	2	248	1	0	0	0	0	1	0	0	0	10642	971	34	3	1014	3	NRBP1	2	27662705	Missense_Mutation	SNP	G	TCGA-24-1560-01A-01W-0615-10	386818	27662705	215536668	5	13783											
NLRC4	58484	hgsc.bcm.edu	37	2	32475576	32475576	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr2:32475576G>A	ENST00000404025.2	-	5	1845	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R453*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R453*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	453	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.R453*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGAGTCTTCGTCCTGCTGTG	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	2											81	82	82					2																	32475576		2203	4300	6503	32329080	SO:0001587	stop_gained	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1357C>T	2.37:g.32475576G>A	ENSP00000385090:p.Arg453*		32329080	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	37	6.288666	0.97444	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	2.93	0.016	0.14106	.	0.000000	0.39615	N	0.001319	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	2.6863	0.05108	0.3663:0.0:0.316:0.3178	.	.	.	.	X	453	.	ENSP00000354159:R453X	R	-	1	2	NLRC4	32329080	0.052000	0.20516	0.962000	0.40283	0.987000	0.75469	0.242000	0.18087	0.133000	0.18654	0.430000	0.28490	CGA		0.448	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		A	32475576	G	A	32475576	4	1	248	1	0	0	0	0	0	1	0	0	10469	1153	40	1	1741	1	NLRC4	2	32475576	Nonsense_Mutation	SNP	G	TCGA-24-1560-01A-01W-0615-10	4812871	32475576	210723797	6	13784											
NUP210	23225	hgsc.bcm.edu	37	3	13359231	13359231	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr3:13359231T>A	ENST00000254508.5	-	40	5696	c.5614A>T	c.(5614-5616)Aaa>Taa	p.K1872*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1872					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.K1872*(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGGCTGGCTTTGCGAGCAGGA	0.627																																																1	Substitution - Nonsense(1)	ovary(1)	3											89	84	86					3																	13359231		2203	4300	6503	13334231	SO:0001587	stop_gained	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5614A>T	3.37:g.13359231T>A	ENSP00000254508:p.Lys1872*		13334231	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	45	11.701740	0.99592	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.51	3.04	0.35103	.	0.512077	0.20760	N	0.086182	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9906	9.8267	0.40916	0.0:0.0:0.3346:0.6654	.	.	.	.	X	1872	.	ENSP00000254508:K1872X	K	-	1	0	NUP210	13334231	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	0.846000	0.27682	0.357000	0.24183	0.533000	0.62120	AAA		0.627	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13359231	T	A	13359231	4	1	248	1	0	0	0	0	0	1	0	0	10760	1821	63	5	53	5	NUP210	3	13359231	Nonsense_Mutation	SNP	T	TCGA-24-1560-01A-01W-0615-10		13359231	184663199	7	13785											
PCDHB15	56121	hgsc.bcm.edu	37	5	140626304	140626304	+	Silent	SNP	G	G	A			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr5:140626304G>A	ENST00000231173.3	+	1	1158	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q386Q(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCAATTCAGGATGATGTTC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	5											76	75	75					5																	140626304		2203	4300	6503	140606488	SO:0001819	synonymous_variant	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1158G>A	5.37:g.140626304G>A			140606488	Q8IUX5	Silent	SNP	ENST00000231173.3	37	CCDS4257.1																																																																																				0.463	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		A	140626304	G	A	140626304	2	1	248	1	0	0	0	0	0	0	0	1	11540	991	35	2		2	PCDHB15	5	140626304	Silent	SNP	G	TCGA-24-1560-01A-01W-0615-10		140626304	40288956	8	13786											
GABRA6	2559	hgsc.bcm.edu	37	5	161116753	161116753	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr5:161116753C>T	ENST00000274545.5	+	6	1074	c.641C>T	c.(640-642)aCa>aTa	p.T214I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.T204I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	214					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.T214R(1)|p.T214I(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)	ATTGGACAAACAGTATCTAGT	0.363										TCGA Ovarian(5;0.080)																																						2	Substitution - Missense(2)	ovary(1)|lung(1)	5											73	81	78					5																	161116753		2203	4300	6503	161049331	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.641C>T	5.37:g.161116753C>T	ENSP00000274545:p.Thr214Ile		161049331	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.16|18.16	3.561380|3.561380	0.65538|0.65538	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	.|T;T;T;T	.|0.78816	.|-1.21;-1.21;-1.21;-1.21	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.047469	.|0.85682	.|D	.|0.000000	.|D	.|0.85758	.|0.5771	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.71674	.|0.998	.|D	.|0.76575	.|0.988	.|D	.|0.86615	.|0.1875	.|10	.|0.66056	.|D	.|0.02	.|.	14.0794|14.0794	0.64912|0.64912	0.1506:0.8494:0.0:0.0|0.1506:0.8494:0.0:0.0	.|.	.|214	.|Q16445	.|GBRA6_HUMAN	X|I	154|214;204;161;134	.|ENSP00000274545:T214I;ENSP00000430527:T204I;ENSP00000430212:T161I;ENSP00000427989:T134I	.|ENSP00000274545:T214I	Q|T	+|+	1|2	0|0	GABRA6|GABRA6	161049331|161049331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.542000|4.542000	0.60677|0.60677	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.363	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			T	161116753	C	T	161116753	3	4	248	1	0	0	0	0	1	0	0	0	6165	478	17	2	663	2	GABRA6	5	161116753	Missense_Mutation	SNP	C	TCGA-24-1560-01A-01W-0615-10	20490449	161116753	19798507	9	13787											
WRNIP1	56897	hgsc.bcm.edu	37	6	2784566	2784566	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr6:2784566G>A	ENST00000380773.4	+	6	1860	c.1651G>A	c.(1651-1653)Gac>Aac	p.D551N	WRNIP1_ENST00000380764.1_Missense_Mutation_p.D167N|WRNIP1_ENST00000380771.4_Missense_Mutation_p.D526N|WRNIP1_ENST00000380769.4_Missense_Mutation_p.D331N	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1									p.D551N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGGTCTGGCAGACCCGTCTGC	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											112	88	96					6																	2784566		2203	4300	6503	2729565	SO:0001583	missense	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1651G>A	6.37:g.2784566G>A	ENSP00000370150:p.Asp551Asn		2729565		Missense_Mutation	SNP	ENST00000380773.4	37	CCDS4475.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425165	0.96131	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.55413	0.52;0.66;0.67	5.57	5.57	0.84162	MgsA AAA+ ATPase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.56492	-0.7970	10	0.33141	T	0.24	-10.3159	18.5466	0.91048	0.0:0.0:1.0:0.0	.	526;551	Q96S55-2;Q96S55	.;WRIP1_HUMAN	N	551;526;331;167	ENSP00000370150:D551N;ENSP00000370148:D526N;ENSP00000370146:D331N	ENSP00000370141:D167N	D	+	1	0	WRNIP1	2729565	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.252000	0.95491	2.610000	0.88304	0.563000	0.77884	GAC		0.502	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		A	2784566	G	A	2784566	3	1	248	1	0	0	0	0	1	0	0	0	17403	942	33	2	1673	2	WRNIP1	6	2784566	Missense_Mutation	SNP	G	TCGA-24-1560-01A-01W-0615-10		2784566	168330501	10	13788											
FRS3	10817	hgsc.bcm.edu	37	6	41740674	41740674	+	Missense_Mutation	SNP	G	G	A	rs373851277		TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr6:41740674G>A	ENST00000373018.3	-	5	528	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	FRS3_ENST00000259748.2_Missense_Mutation_p.R93W	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	93	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)	p.R93W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTCAGCCCGGGAACACTTA	0.502																																																1	Substitution - Missense(1)	ovary(1)	6						G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	96	92	93		277	3.1	1	6		93	0,8600		0,0,4300	no	missense	FRS3	NM_006653.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	93/493	41740674	1,13005	2203	4300	6503	41848652	SO:0001583	missense	10817			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.277C>T	6.37:g.41740674G>A	ENSP00000362109:p.Arg93Trp		41848652	Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959617	0.74016	2.27E-4	0.0	ENSG00000137218	ENST00000373018;ENST00000259748;ENST00000426290	D;D;D	0.83419	-1.72;-1.72;-1.72	5.25	3.06	0.35304	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.88288	0.6396	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89421	0.3710	10	0.87932	D	0	-26.4335	14.0726	0.64870	0.0:0.0:0.3204:0.6796	.	93	O43559	FRS3_HUMAN	W	93;93;117	ENSP00000362109:R93W;ENSP00000259748:R93W;ENSP00000396715:R117W	ENSP00000259748:R93W	R	-	1	2	FRS3	41848652	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	2.539000	0.45718	0.325000	0.23359	0.655000	0.94253	CGG		0.502	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		A	41740674	G	A	41740674	3	1	248	1	0	0	0	0	1	0	0	0	6062	1115	39	1	1213	1	FRS3	6	41740674	Missense_Mutation	SNP	G	TCGA-24-1560-01A-01W-0615-10	38956108	41740674	129374393	11	13789											
BACH2	60468	hgsc.bcm.edu	37	6	90718452	90718452	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr6:90718452C>T	ENST00000257749.4	-	6	819	c.112G>A	c.(112-114)Gac>Aac	p.D38N	BACH2_ENST00000343122.3_Missense_Mutation_p.D38N|BACH2_ENST00000537989.1_Missense_Mutation_p.D38N	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	38	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.D38N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AAAGTCACGTCACAGAGAATA	0.542																																																1	Substitution - Missense(1)	ovary(1)	6											164	154	157					6																	90718452		2203	4300	6503	90775173	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.112G>A	6.37:g.90718452C>T	ENSP00000257749:p.Asp38Asn		90775173	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357905	0.95854	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.33	5.33	0.75918	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.098489	0.64402	D	0.000002	D	0.89763	0.6809	H	0.99555	4.625	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.94194	0.7444	10	0.87932	D	0	-0.3623	19.0228	0.92921	0.0:1.0:0.0:0.0	.	38	Q9BYV9	BACH2_HUMAN	N	38	ENSP00000257749:D38N;ENSP00000437473:D38N;ENSP00000345642:D38N;ENSP00000384145:D38N;ENSP00000397668:D38N	ENSP00000257749:D38N	D	-	1	0	BACH2	90775173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.416000	0.80143	2.507000	0.84556	0.591000	0.81541	GAC		0.542	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		T	90718452	C	T	90718452	3	4	248	1	0	0	0	0	1	0	0	0	1284	826	29	2	2429	2	BACH2	6	90718452	Missense_Mutation	SNP	C	TCGA-24-1560-01A-01W-0615-10	48977778	90718452	80396615	12	13790											
KIAA1967	57805	hgsc.bcm.edu	37	8	22475864	22475864	+	Silent	SNP	C	C	G			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr8:22475864C>G	ENST00000308511.4	+	17	2325	c.2076C>G	c.(2074-2076)ccC>ccG	p.P692P	CCAR2_ENST00000389279.3_Silent_p.P692P|CCAR2_ENST00000520861.1_Silent_p.P367P|BIN3_ENST00000519335.1_5'Flank|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	692					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.P692P(1)									CTTTGCAGCCCAAGGAGCTGG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	8											191	177	182					8																	22475864		2203	4300	6503	22531809	SO:0001819	synonymous_variant	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2076C>G	8.37:g.22475864C>G			22531809	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703446	0.30232	.	.	ENSG00000158941	ENST00000520738	T	0.28895	1.59	6.0	2.08	0.27032	.	0.158680	0.46442	D	0.000293	T	0.22003	0.0530	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08207	-1.0733	7	0.21540	T	0.41	-20.6489	2.4727	0.04568	0.1536:0.5321:0.1486:0.1657	.	.	.	.	R	384	ENSP00000428549:P384R	ENSP00000428549:P384R	P	+	2	0	KIAA1967	22531809	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.727000	0.25999	0.095000	0.17434	-0.126000	0.14955	CCA		0.522	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		G	22475864	C	G	22475864	2	3	248	1	0	0	0	0	0	0	0	1	8265	581	21	3		3	KIAA1967	8	22475864	Silent	SNP	C	TCGA-24-1560-01A-01W-0615-10		22475864	123888158	13	13791											
PRDM14	63978	hgsc.bcm.edu	37	8	70967604	70967604	+	Silent	SNP	A	A	G			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr8:70967604A>G	ENST00000276594.2	-	7	1620	c.1419T>C	c.(1417-1419)tcT>tcC	p.S473S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	473					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.S473S(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTAGGCTGGAAGATTGAGAGA	0.403																																					NSCLC(129;99 1813 5906 40656 46114)											1	Substitution - coding silent(1)	ovary(1)	8											172	146	155					8																	70967604		2203	4300	6503	71130158	SO:0001819	synonymous_variant	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1419T>C	8.37:g.70967604A>G			71130158	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																				0.403	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			G	70967604	A	G	70967604	2	3	248	1	0	0	0	0	0	0	0	1	12458	59	3	4		4	PRDM14	8	70967604	Silent	SNP	A	TCGA-24-1560-01A-01W-0615-10	48491740	70967604	75396418	14	13792											
ROR2	4920	hgsc.bcm.edu	37	9	94486260	94486260	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr9:94486260G>A	ENST00000375708.3	-	9	2714	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	839	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.P839L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATCTGCACCGGGTAGAAGTT	0.667																																																1	Substitution - Missense(1)	ovary(1)	9											72	79	76					9																	94486260		2203	4300	6503	93526081	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2516C>T	9.37:g.94486260G>A	ENSP00000364860:p.Pro839Leu		93526081	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447673	0.43429	.	.	ENSG00000169071	ENST00000375708	T	0.78481	-1.18	4.73	4.73	0.59995	.	0.175018	0.27433	N	0.019393	T	0.73194	0.3556	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	P	0.48454	0.578	T	0.77830	-0.2442	10	0.59425	D	0.04	.	17.9241	0.88977	0.0:0.0:1.0:0.0	.	839	Q01974	ROR2_HUMAN	L	839	ENSP00000364860:P839L	ENSP00000364860:P839L	P	-	2	0	ROR2	93526081	1.000000	0.71417	0.943000	0.38184	0.226000	0.24999	5.120000	0.64685	2.456000	0.83038	0.462000	0.41574	CCG		0.667	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			A	94486260	G	A	94486260	3	1	248	1	0	0	0	0	1	0	0	0	13530	1116	39	1	319	1	ROR2	9	94486260	Missense_Mutation	SNP	G	TCGA-24-1560-01A-01W-0615-10		94486260	46727171	15	13793											
CDHR1	92211	hgsc.bcm.edu	37	10	85972942	85972942	+	Silent	SNP	G	G	A	rs369628724		TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr10:85972942G>A	ENST00000372117.3	+	16	1981	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	CDHR1_ENST00000332904.3_Silent_p.T626T|CDHR1_ENST00000440770.2_Silent_p.T330T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.T626T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCCCACACGGGGGAGATCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	10											118	105	109					10																	85972942		2203	4300	6503	85962922	SO:0001819	synonymous_variant	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1878G>A	10.37:g.85972942G>A			85962922	Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	CCDS7372.1																																																																																				0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		A	85972942	G	A	85972942	2	1	248	1	0	0	0	0	0	0	0	1	3118	1103	39	1		1	CDHR1	10	85972942	Silent	SNP	G	TCGA-24-1560-01A-01W-0615-10		85972942	49561805	16	13794											
SLC6A5	9152	hgsc.bcm.edu	37	11	20625937	20625937	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr11:20625937A>T	ENST00000525748.1	+	3	919	c.646A>T	c.(646-648)Agg>Tgg	p.R216W		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	216					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R216W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAATGTCTGGAGGTTTCCCTA	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											126	122	123					11																	20625937		2203	4300	6503	20582513	SO:0001583	missense	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.646A>T	11.37:g.20625937A>T	ENSP00000434364:p.Arg216Trp		20582513	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.533272	0.85812	.	.	ENSG00000165970	ENST00000525748	D	0.84442	-1.85	4.63	3.41	0.39046	.	0.046947	0.85682	D	0.000000	D	0.94591	0.8257	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95199	0.8315	10	0.87932	D	0	.	10.8508	0.46769	0.8421:0.1579:0.0:0.0	.	216	Q9Y345	SC6A5_HUMAN	W	216	ENSP00000434364:R216W	ENSP00000434364:R216W	R	+	1	2	SLC6A5	20582513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.073000	0.64395	1.860000	0.53959	0.379000	0.24179	AGG		0.632	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		T	20625937	A	T	20625937	3	4	248	1	0	0	0	0	1	0	0	0	14690	295	11	5	656	5	SLC6A5	11	20625937	Missense_Mutation	SNP	A	TCGA-24-1560-01A-01W-0615-10		20625937	114380579	17	13795											
STAT6	6778	hgsc.bcm.edu	37	12	57496677	57496677	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr12:57496677C>G	ENST00000300134.3	-	12	1565	c.1240G>C	c.(1240-1242)Gtc>Ctc	p.V414L	STAT6_ENST00000538913.2_Missense_Mutation_p.V304L|STAT6_ENST00000454075.3_Missense_Mutation_p.V414L|STAT6_ENST00000537215.2_Missense_Mutation_p.V304L|STAT6_ENST00000543873.2_Missense_Mutation_p.V414L|STAT6_ENST00000556155.1_Missense_Mutation_p.V414L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	414					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.V414L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TTGCCATGGACGATGACCACC	0.458																																																1	Substitution - Missense(1)	ovary(1)	12											128	107	114					12																	57496677		2203	4300	6503	55782944	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1240G>C	12.37:g.57496677C>G	ENSP00000300134:p.Val414Leu		55782944	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.267435|5.267435	0.95399|0.95399	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000553533|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	.|T;T;T;T;T;T	.|0.79749	.|-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.44|5.44	5.44|5.44	0.79542|0.79542	.|STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90342|0.90342	0.6978|0.6978	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.997;0.998	D|D	0.91181|0.91181	0.4976|0.4976	5|10	.|0.87932	.|D	.|0	-28.1822|-28.1822	16.7916|16.7916	0.85590|0.85590	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|414;414	.|A8K4S9;P42226	.|.;STAT6_HUMAN	P|L	114|414;304;304;414;414;304;414;304;414	.|ENSP00000300134:V414L;ENSP00000445409:V304L;ENSP00000438451:V414L;ENSP00000451742:V414L;ENSP00000444530:V304L;ENSP00000401486:V414L	.|ENSP00000300134:V414L	R|V	-|-	2|1	0|0	STAT6|STAT6	55782944|55782944	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	4.670000|4.670000	0.61583|0.61583	2.833000|2.833000	0.97629|0.97629	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.458	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		G	57496677	C	G	57496677	3	3	248	1	0	0	0	0	1	0	0	0	15272	536	19	3	1347	3	STAT6	12	57496677	Missense_Mutation	SNP	C	TCGA-24-1560-01A-01W-0615-10		57496677	76355218	18	13796											
MGAT4C	25834	hgsc.bcm.edu	37	12	86373822	86373822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr12:86373822G>A	ENST00000604798.1	-	8	1886	c.682C>T	c.(682-684)Cga>Tga	p.R228*	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.R257*|MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.R228*			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	228					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R228*(2)|p.R228>?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTTGAACATCGAACATCATCT	0.348																																																3	Substitution - Nonsense(2)|Complex(1)	large_intestine(2)|ovary(1)	12											80	77	78					12																	86373822		2203	4300	6503	84897953	SO:0001587	stop_gained	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.682C>T	12.37:g.86373822G>A	ENSP00000474896:p.Arg228*		84897953	B4DRH2|Q4G199|Q9UIU5	Nonsense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592725	0.28357	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	.	.	.	5.79	4.9	0.64082	.	0.071536	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.5256	13.9972	0.64409	0.0:0.0:0.7246:0.2754	.	.	.	.	X	228;257;228;228;228;228;228	.	ENSP00000331664:R228X	R	-	1	2	MGAT4C	84897953	1.000000	0.71417	0.093000	0.20910	0.004000	0.04260	4.667000	0.61561	1.428000	0.47296	-0.169000	0.13324	CGA		0.348	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		A	86373822	G	A	86373822	4	1	248	1	0	0	0	0	0	1	0	0	9547	1066	37	1	758	1	MGAT4C	12	86373822	Nonsense_Mutation	SNP	G	TCGA-24-1560-01A-01W-0615-10	28877145	86373822	47478073	19	13797											
DDX54	79039	hgsc.bcm.edu	37	12	113600845	113600845	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr12:113600845delC	ENST00000306014.5	-	17	2114	c.2087delG	c.(2086-2088)agcfs	p.S696fs	DDX54_ENST00000314045.7_Frame_Shift_Del_p.S696fs|DDX54_ENST00000549271.1_5'Flank	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	696					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.S696fs*20(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCGCTGATGCTCAGGCTGCA	0.652																																																1	Deletion - Frameshift(1)	ovary(1)	12											49	49	49					12																	113600845		2203	4300	6503	112085228	SO:0001589	frameshift_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2087delG	12.37:g.113600845delC	ENSP00000304072:p.Ser696fs		112085228	Q86YT8|Q9BRZ1	Frame_Shift_Del	DEL	ENST00000306014.5	37	CCDS31907.1																																																																																				0.652	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		-	113600845	C	-	113600845	7	5	248	1	0	1	0	1	0	0	0	0	4372	797	28	0	577	0	DDX54	12	113600845	Frame_Shift_Del	DEL	C	TCGA-24-1560-01A-01W-0615-10	27227023	113600845	20251050	20	13798											
RBBP6	5930	hgsc.bcm.edu	37	16	24578491	24578491	+	Silent	SNP	C	C	T	rs138070460		TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr16:24578491C>T	ENST00000319715.4	+	15	2049	c.1617C>T	c.(1615-1617)agC>agT	p.S539S	RBBP6_ENST00000348022.2_Silent_p.S539S|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	539					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S539S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GACACCACAGCGAAAGATCAC	0.448													C|||	1	0.000199681	0	0	5008	,	,		18922	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	16						C	,	1,4393	2.1+/-5.4	0,1,2196	139	131	134		1617,1617	2.2	1	16	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RBBP6	NM_006910.4,NM_018703.3	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	539/1793,539/1759	24578491	1,12993	2197	4300	6497	24485992	SO:0001819	synonymous_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1617C>T	16.37:g.24578491C>T			24485992	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	CCDS10621.1																																																																																				0.448	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		T	24578491	C	T	24578491	2	4	248	1	0	0	0	0	0	0	0	1	13106	767	27	1		1	RBBP6	16	24578491	Silent	SNP	C	TCGA-24-1560-01A-01W-0615-10		24578491	65776262	21	13799											
TP53	7157	hgsc.bcm.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr17:7577551C>A	ENST00000269305.4	-	7	919	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000445888.2_Missense_Mutation_p.G244C|TP53_ENST00000359597.4_Missense_Mutation_p.G244C|TP53_ENST00000413465.2_Missense_Mutation_p.G244C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G244C|TP53_ENST00000420246.2_Missense_Mutation_p.G244C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCATGCCGCCCATGCAGGAA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	17											147	111	123					17																	7577551		2203	4300	6503	7518276	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>T	17.37:g.7577551C>A	ENSP00000269305:p.Gly244Cys		7518276	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604756	0.87157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244C;ENSP00000352610:G244C;ENSP00000269305:G244C;ENSP00000398846:G244C;ENSP00000391127:G244C;ENSP00000391478:G244C;ENSP00000425104:G112C;ENSP00000423862:G151C	ENSP00000269305:G244C	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577551	C	A	7577551	3	1	248	1	0	0	0	0	1	0	0	0	16381	623	22	3	560	3	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-24-1560-01A-01W-0615-10		7577551	73617659	22	13800											
PHF12	57649	hgsc.bcm.edu	37	17	27244452	27244452	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr17:27244452T>C	ENST00000332830.4	-	7	1795	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.M329V|PHF12_ENST00000577226.1_Missense_Mutation_p.M329V	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.M329V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTCAGTGTCATATTCTTCTGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	17											68	57	61					17																	27244452		2203	4300	6503	24268578	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.985A>G	17.37:g.27244452T>C	ENSP00000329933:p.Met329Val		24268578		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	8.432	0.848947	0.17034	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	T;T;T	0.28666	1.6;1.6;1.6	5.88	4.79	0.61399	.	0.128170	0.64402	D	0.000001	T	0.20088	0.0483	L	0.29908	0.895	0.35688	D	0.814635	B;B;B;B;B	0.12013	0.002;0.005;0.002;0.004;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.001;0.001	T	0.17107	-1.0380	10	0.25106	T	0.35	-9.5181	7.8325	0.29351	0.1332:0.0:0.1477:0.719	.	311;329;329;329;329	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	V	329	ENSP00000329933:M329V;ENSP00000368157:M329V;ENSP00000268756:M329V	ENSP00000268756:M329V	M	-	1	0	PHF12	24268578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.742000	0.47434	1.036000	0.39998	0.533000	0.62120	ATG		0.488	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		C	27244452	T	C	27244452	3	2	248	1	0	0	0	0	1	0	0	0	11823	1406	49	4	2091	4	PHF12	17	27244452	Missense_Mutation	SNP	T	TCGA-24-1560-01A-01W-0615-10	19666901	27244452	53950758	23	13801											
ITGA2B	3674	hgsc.bcm.edu	37	17	42453451	42453451	+	Splice_Site	SNP	A	A	T			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr17:42453451A>T	ENST00000262407.5	-	24	2480		c.e24+1		ITGA2B_ENST00000353281.4_Splice_Site	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.?(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GCTCCCCAATACCTCATAGGT	0.627											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Unknown(1)	ovary(1)	17											106	108	107					17																	42453451		2203	4300	6503	39808977	SO:0001630	splice_region_variant	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2448+1T>A	17.37:g.42453451A>T		908	39808977	B2RCY8|O95366|Q14443|Q17R67	Splice_Site	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808242	0.50421	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3758	0.38281	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA2B	39808977	1.000000	0.71417	0.935000	0.37517	0.523000	0.34469	5.813000	0.69201	1.789000	0.52484	0.459000	0.35465	.		0.627	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		Intron	T	42453451	A	T	42453451	5	4	248	1	0	0	0	0	0	0	1	0	7876	405	14	5	697	5	ITGA2B	17	42453451	Splice_Site	SNP	A	TCGA-24-1560-01A-01W-0615-10	15208999	42453451	38741759	24	13802											
RHBDF2	79651	hgsc.bcm.edu	37	17	74469136	74469136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr17:74469136delC	ENST00000313080.4	-	17	2221	c.1948delG	c.(1948-1950)gtcfs	p.V650fs	RHBDF2_ENST00000591885.1_Frame_Shift_Del_p.V621fs|RHBDF2_ENST00000389760.4_Frame_Shift_Del_p.V621fs	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	650					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V650fs*29(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGATCTGGGACCTCAGGGTTG	0.612																																																1	Deletion - Frameshift(1)	ovary(1)	17											75	71	73					17																	74469136		2203	4300	6503	71980731	SO:0001589	frameshift_variant	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1948delG	17.37:g.74469136delC	ENSP00000322775:p.Val650fs		71980731	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Frame_Shift_Del	DEL	ENST00000313080.4	37	CCDS32743.1																																																																																				0.612	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		-	74469136	C	-	74469136	7	5	248	1	0	1	0	1	0	0	0	0	13323	507	18	0	634	0	RHBDF2	17	74469136	Frame_Shift_Del	DEL	C	TCGA-24-1560-01A-01W-0615-10	32015685	74469136	6726074	25	13803											
ATP9B	374868	hgsc.bcm.edu	37	18	77097312	77097312	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr18:77097312G>A	ENST00000426216.2	+	19	2163	c.2146G>A	c.(2146-2148)Gac>Aac	p.D716N	ATP9B_ENST00000543761.1_Missense_Mutation_p.D37N|RP11-800A18.4_ENST00000592906.1_RNA|ATP9B_ENST00000307671.7_Missense_Mutation_p.D716N	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	716					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D716N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GAGCATGCACGACAGGTCCCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	18											127	100	109					18																	77097312		2203	4300	6503	75198300	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2146G>A	18.37:g.77097312G>A	ENSP00000398076:p.Asp716Asn		75198300	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916049	0.52546	.	.	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	D;D;T	0.81659	-1.52;-1.52;-0.9	5.36	5.36	0.76844	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.81730	0.4884	L	0.46567	1.45	0.80722	D	1	B;D;D	0.60160	0.036;0.987;0.984	B;P;P	0.53224	0.022;0.721;0.599	T	0.76908	-0.2785	10	0.10636	T	0.68	.	19.1091	0.93310	0.0:0.0:1.0:0.0	.	37;716;716	F5H8J1;O43861;O43861-2	.;ATP9B_HUMAN;.	N	716;716;37	ENSP00000398076:D716N;ENSP00000304500:D716N;ENSP00000442015:D37N	ENSP00000304500:D716N	D	+	1	0	ATP9B	75198300	1.000000	0.71417	0.431000	0.26735	0.028000	0.11728	9.113000	0.94321	2.512000	0.84698	0.655000	0.94253	GAC		0.637	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		A	77097312	G	A	77097312	3	1	248	1	0	0	0	0	1	0	0	0	1199	1058	37	1	2220	1	ATP9B	18	77097312	Missense_Mutation	SNP	G	TCGA-24-1560-01A-01W-0615-10		77097312	979936	26	13804											
NLRP8	126205	hgsc.bcm.edu	37	19	56466195	56466195	+	Silent	SNP	C	C	T	rs139408819		TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chr19:56466195C>T	ENST00000291971.3	+	3	842	c.771C>T	c.(769-771)tcC>tcT	p.S257S	NLRP8_ENST00000590542.1_Silent_p.S257S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	257	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S257S(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGAGCTTCTCCGAGCTGATTG	0.517																																																1	Substitution - coding silent(1)	ovary(1)	19						C		0,4406		0,0,2203	156	153	154		771	-4.1	0	19	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		257/1049	56466195	1,13005	2203	4300	6503	61158007	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.771C>T	19.37:g.56466195C>T			61158007	Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1																																																																																				0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56466195	C	T	56466195	2	4	248	1	0	0	0	0	0	0	0	1	10483	639	23	1		1	NLRP8	19	56466195	Silent	SNP	C	TCGA-24-1560-01A-01W-0615-10		56466195	2662788	27	13805											
AMOT	154796	hgsc.bcm.edu	37	X	112024317	112024317	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1560-01A-01W-0615-10	TCGA-24-1560-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	3f3c8d7b-46f3-491c-9c1b-8f57ed028add	4a10ff75-f7d4-466b-bc81-c3b72df5cef9	g.chrX:112024317T>G	ENST00000524145.1	-	10	2344	c.2270A>C	c.(2269-2271)gAg>gCg	p.E757A	AMOT_ENST00000304758.1_Missense_Mutation_p.E348A|AMOT_ENST00000371958.1_Missense_Mutation_p.E525A|AMOT_ENST00000371959.3_Missense_Mutation_p.E757A|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Missense_Mutation_p.E525A			Q4VCS5	AMOT_HUMAN	angiomotin	757					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.E348A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGCATCCTTCTCAATAATCTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											142	132	135					X																	112024317		2203	4300	6503	111910973	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2270A>C	X.37:g.112024317T>G	ENSP00000429013:p.Glu757Ala		111910973	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803254	0.90623	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.40225	1.84;1.28;1.52;1.28;1.04	5.69	5.69	0.88448	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	M	0.81497	2.545	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.70447	-0.4869	10	0.59425	D	0.04	-18.8938	14.0042	0.64453	0.0:0.0:0.0:1.0	.	757	Q4VCS5	AMOT_HUMAN	A	348;757;525;757;525	ENSP00000305557:E348A;ENSP00000361027:E757A;ENSP00000361030:E525A;ENSP00000429013:E757A;ENSP00000361026:E525A	ENSP00000305557:E348A	E	-	2	0	AMOT	111910973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.021000	0.88750	1.904000	0.55121	0.486000	0.48141	GAG		0.537	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		G	112024317	T	G	112024317	3	3	248	1	0	0	0	0	1	0	0	0	582	1551	54	5	996	5	AMOT	23	112024317	Missense_Mutation	SNP	T	TCGA-24-1560-01A-01W-0615-10		112024317	43246243	28	13806											
RSC1A1	6248	genome.wustl.edu	37	1	15986577	15986577	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr1:15986577C>G	ENST00000345034.1	+	1	214	c.214C>G	c.(214-216)Ctt>Gtt	p.L72V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	72					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)	p.L72V(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGAACATCTTTCTTTACA	0.438																																																1	Substitution - Missense(1)	ovary(1)	1											106	111	109					1																	15986577		2203	4300	6503	15859164	SO:0001583	missense	6248			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.214C>G	1.37:g.15986577C>G	ENSP00000341963:p.Leu72Val		15859164	B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199217	0.22121	.	.	ENSG00000215695	ENST00000345034	T	0.44482	0.92	5.68	2.77	0.32553	.	0.683196	0.13026	N	0.419704	T	0.28234	0.0697	L	0.27053	0.805	0.09310	N	1	B	0.20671	0.047	B	0.24541	0.054	T	0.20075	-1.0286	10	0.32370	T	0.25	.	7.0845	0.25249	0.0:0.705:0.1425:0.1525	.	72	Q92681	RSCA1_HUMAN	V	72	ENSP00000341963:L72V	ENSP00000341963:L72V	L	+	1	0	RSC1A1	15859164	0.000000	0.05858	0.307000	0.25127	0.364000	0.29643	0.115000	0.15540	0.740000	0.32651	0.561000	0.74099	CTT		0.438	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		G	15986577	C	G	15986577	3	3	249	1	0	0	0	0	1	0	0	0	13701	913	32	3	216	3	RSC1A1	1	15986577	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09		15986577	233264044	1	13807											
TMEM43	79188	genome.wustl.edu	37	3	14183263	14183263	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr3:14183263C>T	ENST00000306077.4	+	12	1425	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RP11-434D12.1_ENST00000608606.1_Intron|RP11-434D12.1_ENST00000601399.1_Intron|AC093495.4_ENST00000428681.3_RNA	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	391					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R391W(1)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CCTTGTTGCTCGGACACGGGT	0.647																																																1	Substitution - Missense(1)	ovary(1)	3											44	44	44					3																	14183263		2203	4300	6503	14158264	SO:0001583	missense	79188			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.1171C>T	3.37:g.14183263C>T	ENSP00000303992:p.Arg391Trp		14158264	Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291095	0.59976	.	.	ENSG00000170876	ENST00000306077	T	0.38401	1.14	5.6	4.73	0.59995	.	0.128849	0.47093	N	0.000254	T	0.43545	0.1252	L	0.38175	1.15	0.42739	D	0.993731	D	0.76494	0.999	P	0.61722	0.893	T	0.42120	-0.9470	10	0.87932	D	0	-26.2125	8.7277	0.34480	0.2464:0.6796:0.0:0.074	.	391	Q9BTV4	TMM43_HUMAN	W	391	ENSP00000303992:R391W	ENSP00000303992:R391W	R	+	1	2	TMEM43	14158264	0.990000	0.36364	0.998000	0.56505	0.331000	0.28603	2.163000	0.42377	1.361000	0.45981	0.585000	0.79938	CGG		0.647	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		T	14183263	C	T	14183263	3	4	249	1	0	0	0	0	1	0	0	0	16167	875	31	1	1217	1	TMEM43	3	14183263	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09		14183263	183839167	2	13808											
KLHL24	54800	genome.wustl.edu	37	3	183368847	183368847	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr3:183368847C>T	ENST00000454652.2	+	4	1089	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	KLHL24_ENST00000242810.6_Missense_Mutation_p.R235C|KLHL24_ENST00000476808.1_Missense_Mutation_p.R235C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	235	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.R235C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGCCGTCATGCGTTGGGTCTA	0.418																																																1	Substitution - Missense(1)	ovary(1)	3											152	146	148					3																	183368847		2203	4300	6503	184851541	SO:0001583	missense	54800				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.703C>T	3.37:g.183368847C>T	ENSP00000395012:p.Arg235Cys		184851541	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329530	0.60743	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.70516	-0.49;-0.49;-0.49	5.09	5.09	0.68999	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.965;0.978	D	0.87972	0.2737	10	0.62326	D	0.03	.	18.5002	0.90878	0.0:1.0:0.0:0.0	.	235;235	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	C	235	ENSP00000242810:R235C;ENSP00000395012:R235C;ENSP00000419010:R235C	ENSP00000242810:R235C	R	+	1	0	KLHL24	184851541	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.891000	0.48617	2.361000	0.80049	0.460000	0.39030	CGT		0.418	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		T	183368847	C	T	183368847	3	4	249	1	0	0	0	0	1	0	0	0	8379	768	27	1	705	1	KLHL24	3	183368847	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09	169185584	183368847	14653583	3	13809											
FAT1	2195	genome.wustl.edu	37	4	187540875	187540875	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr4:187540875C>T	ENST00000441802.2	-	10	7074	c.6865G>A	c.(6865-6867)Gcg>Acg	p.A2289T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2289	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2289T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGGTCACCGCATAAGACTGC	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											1	Substitution - Missense(1)	ovary(1)	4											97	99	99					4																	187540875		1986	4169	6155	187777869	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6865G>A	4.37:g.187540875C>T	ENSP00000406229:p.Ala2289Thr		187777869		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.417154	0.00188	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02682	4.2	5.23	-1.36	0.09085	Cadherin (3);Cadherin-like (1);	0.598725	0.18384	N	0.142864	T	0.01124	0.0037	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47774	-0.9091	10	0.06494	T	0.89	.	6.8433	0.23975	0.1301:0.4287:0.0:0.4412	.	2289	Q14517	FAT1_HUMAN	T	2289;2291	ENSP00000406229:A2289T	ENSP00000260147:A2291T	A	-	1	0	FAT1	187777869	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.091000	0.11146	-0.226000	0.09899	0.655000	0.94253	GCG		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187540875	C	T	187540875	3	4	249	1	0	0	0	0	1	0	0	0	5689	710	25	2	6973	2	FAT1	4	187540875	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09		187540875	3613401	4	13810											
CUL7	9820	genome.wustl.edu	37	6	43019995	43019995	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr6:43019995G>A	ENST00000265348.3	-	2	617	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	CUL7_ENST00000535468.1_Missense_Mutation_p.R230C			Q14999	CUL7_HUMAN	cullin 7	178					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.R178C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCACTCCAGCGAATCTGATAA	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											69	63	65					6																	43019995		2203	4300	6503	43127973	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.532C>T	6.37:g.43019995G>A	ENSP00000265348:p.Arg178Cys		43127973	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434540	0.62955	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.72942	-0.7;-0.42	5.6	5.6	0.85130	Armadillo-like helical (1);	0.201800	0.43579	D	0.000558	T	0.68403	0.2997	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.83275	0.495;0.996	T	0.70927	-0.4739	10	0.44086	T	0.13	-15.9369	14.8367	0.70190	0.0712:0.0:0.9288:0.0	.	230;178	F5H0L1;Q14999	.;CUL7_HUMAN	C	178;230	ENSP00000265348:R178C;ENSP00000438788:R230C	ENSP00000265348:R178C	R	-	1	0	CUL7	43127973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.237000	0.58681	2.632000	0.89209	0.561000	0.74099	CGC		0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		A	43019995	G	A	43019995	3	1	249	1	0	0	0	0	1	0	0	0	4060	1058	37	1	4760	1	CUL7	6	43019995	Missense_Mutation	SNP	G	TCGA-24-1562-01A-01W-0553-09		43019995	128095072	5	13811											
NT5E	4907	genome.wustl.edu	37	6	86197130	86197130	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr6:86197130A>G	ENST00000257770.3	+	5	1076	c.1027A>G	c.(1027-1029)Att>Gtt	p.I343V	NT5E_ENST00000369651.3_Missense_Mutation_p.I343V	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	343					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.I343V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	AGGGAAAACAATTGTCTATCT	0.398																																					Melanoma(140;797 1765 2035 2752 18208)											1	Substitution - Missense(1)	ovary(1)	6											148	145	146					6																	86197130		2203	4300	6503	86253849	SO:0001583	missense	4907			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1027A>G	6.37:g.86197130A>G	ENSP00000257770:p.Ile343Val		86253849	B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	A	2.189	-0.385704	0.04966	.	.	ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369651	T;T	0.54279	0.58;0.58	5.38	-1.34	0.09143	5&apos (3);-Nucleotidase, C-terminal (3);	0.574073	0.19296	N	0.117770	T	0.06371	0.0164	N	0.04705	-0.18	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.30621	-0.9972	10	0.11485	T	0.65	-3.7314	1.2605	0.02000	0.4141:0.2553:0.2076:0.1231	.	343;343	B3KQI8;P21589	.;5NTD_HUMAN	V	119;343;343	ENSP00000257770:I343V;ENSP00000358665:I343V	ENSP00000257770:I343V	I	+	1	0	NT5E	86253849	0.000000	0.05858	0.059000	0.19551	0.469000	0.32828	-0.026000	0.12392	-0.205000	0.10219	0.455000	0.32223	ATT		0.398	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			G	86197130	A	G	86197130	3	3	249	1	0	0	0	0	1	0	0	0	10693	101	4	4	1045	4	NT5E	6	86197130	Missense_Mutation	SNP	A	TCGA-24-1562-01A-01W-0553-09	43177135	86197130	84917937	6	13812											
ZNF716	441234	genome.wustl.edu	37	7	57528776	57528776	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr7:57528776T>G	ENST00000420713.1	+	4	721	c.609T>G	c.(607-609)caT>caG	p.H203Q		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H203Q(1)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						TAAATCAACATCAGATAATTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	7											56	49	51					7																	57528776		692	1591	2283	57532718	SO:0001583	missense	441234			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.609T>G	7.37:g.57528776T>G	ENSP00000394248:p.His203Gln		57532718		Missense_Mutation	SNP	ENST00000420713.1	37	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	t	5.718	0.316894	0.10845	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	D	0.86865	-2.18	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85847	0.5792	M	0.86651	2.83	0.09310	N	0.999998	B	0.24132	0.098	B	0.20955	0.032	T	0.77778	-0.2460	9	0.62326	D	0.03	.	4.8229	0.13400	0.0:2.0E-4:0.0:0.9998	.	191	A6NP11	ZN716_HUMAN	Q	203;191	ENSP00000394248:H203Q	ENSP00000387687:H191Q	H	+	3	2	ZNF716	57532718	0.005000	0.15991	0.009000	0.14445	0.009000	0.06853	-0.676000	0.05221	0.257000	0.21650	0.254000	0.18369	CAT		0.343	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		G	57528776	T	G	57528776	3	3	249	1	0	0	0	0	1	0	0	0	18119	1432	50	5	623	5	ZNF716	7	57528776	Missense_Mutation	SNP	T	TCGA-24-1562-01A-01W-0553-09		57528776	101609887	7	13813											
UBXN2B	137886	genome.wustl.edu	37	8	59352253	59352253	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr8:59352253G>A	ENST00000399598.2	+	6	717	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	199	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.D199N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GGATATGGAGGATCATCAGGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	8											108	101	103					8																	59352253		1846	4079	5925	59514807	SO:0001583	missense	137886			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.595G>A	8.37:g.59352253G>A	ENSP00000382507:p.Asp199Asn		59514807	B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	G	36	5.676832	0.96764	.	.	ENSG00000215114	ENST00000399598	T	0.51325	0.71	5.42	5.42	0.78866	SEP domain (4);	0.000000	0.46145	U	0.000310	T	0.72526	0.3471	M	0.84683	2.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.74945	-0.3491	10	0.48119	T	0.1	-13.7543	17.4072	0.87477	0.0:0.0:1.0:0.0	.	199	Q14CS0	UBX2B_HUMAN	N	199	ENSP00000382507:D199N	ENSP00000382507:D199N	D	+	1	0	UBXN2B	59514807	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.261000	0.95576	2.561000	0.86390	0.603000	0.83216	GAT		0.383	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		A	59352253	G	A	59352253	3	1	249	1	0	0	0	0	1	0	0	0	16915	1174	41	2	617	2	UBXN2B	8	59352253	Missense_Mutation	SNP	G	TCGA-24-1562-01A-01W-0553-09		59352253	87011769	8	13814											
DPY19L4	286148	genome.wustl.edu	37	8	95792594	95792594	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr8:95792594T>A	ENST00000414645.2	+	15	1682	c.1583T>A	c.(1582-1584)aTt>aAt	p.I528N		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	528						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I528N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TAGGCTCTTATTCTGAGCATG	0.299																																																1	Substitution - Missense(1)	ovary(1)	8											66	65	65					8																	95792594		2203	4296	6499	95861770	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1583T>A	8.37:g.95792594T>A	ENSP00000389630:p.Ile528Asn		95861770	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522662	0.64747	.	.	ENSG00000156162	ENST00000414645	T	0.60171	0.21	5.25	2.85	0.33270	.	0.260251	0.43110	D	0.000612	T	0.55561	0.1928	L	0.47716	1.5	0.44316	D	0.997195	P	0.46142	0.873	P	0.49192	0.602	T	0.53528	-0.8426	10	0.59425	D	0.04	-1.4903	8.6114	0.33804	0.0:0.1524:0.0:0.8476	.	528	Q7Z388	D19L4_HUMAN	N	528	ENSP00000389630:I528N	ENSP00000389630:I528N	I	+	2	0	DPY19L4	95861770	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	3.613000	0.54152	0.394000	0.25230	-0.263000	0.10527	ATT		0.299	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		A	95792594	T	A	95792594	3	1	249	1	0	0	0	0	1	0	0	0	4743	1493	52	5	1641	5	DPY19L4	8	95792594	Missense_Mutation	SNP	T	TCGA-24-1562-01A-01W-0553-09	36440341	95792594	50571428	9	13815											
IPMK	253430	genome.wustl.edu	37	10	59986812	59986812	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr10:59986812G>A	ENST00000373935.3	-	3	687	c.365C>T	c.(364-366)gCa>gTa	p.A122V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	122					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)	p.A122V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ACCGTTTGGTGCAGTGGGAGG	0.343																																																1	Substitution - Missense(1)	ovary(1)	10											94	96	95					10																	59986812		2203	4300	6503	59656818	SO:0001583	missense	253430			AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.365C>T	10.37:g.59986812G>A	ENSP00000363046:p.Ala122Val		59656818		Missense_Mutation	SNP	ENST00000373935.3	37	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309864	0.60414	.	.	ENSG00000151151	ENST00000373935	T	0.18657	2.2	5.88	5.88	0.94601	.	0.270973	0.42548	D	0.000696	T	0.23094	0.0558	L	0.50333	1.59	0.43959	D	0.996639	B	0.22604	0.072	B	0.20767	0.031	T	0.02339	-1.1174	9	.	.	.	-3.6826	17.7222	0.88355	0.0:0.0:1.0:0.0	.	122	Q8NFU5	IPMK_HUMAN	V	122	ENSP00000363046:A122V	.	A	-	2	0	IPMK	59656818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.740000	0.47418	2.785000	0.95823	0.650000	0.86243	GCA		0.343	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		A	59986812	G	A	59986812	3	1	249	1	0	0	0	0	1	0	0	0	7792	1319	46	2	901	2	IPMK	10	59986812	Missense_Mutation	SNP	G	TCGA-24-1562-01A-01W-0553-09		59986812	75547935	10	13816											
PSMC3	5702	genome.wustl.edu	37	11	47441885	47441885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr11:47441885C>A	ENST00000298852.3	-	10	1214	c.1057G>T	c.(1057-1059)Gag>Tag	p.E353*	PSMC3_ENST00000530912.1_Nonsense_Mutation_p.E311*|PSMC3_ENST00000602866.1_Nonsense_Mutation_p.E337*	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	353					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E353*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCGGGAACTCTATCTTGCGG	0.592																																																1	Substitution - Nonsense(1)	ovary(1)	11											51	53	52					11																	47441885		2201	4298	6499	47398461	SO:0001587	stop_gained	5702			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.1057G>T	11.37:g.47441885C>A	ENSP00000298852:p.Glu353*		47398461	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Nonsense_Mutation	SNP	ENST00000298852.3	37	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151045	0.94645	.	.	ENSG00000165916	ENST00000298852;ENST00000530912	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-40.2369	19.315	0.94208	0.0:1.0:0.0:0.0	.	.	.	.	X	353;311	.	ENSP00000298852:E353X	E	-	1	0	PSMC3	47398461	1.000000	0.71417	0.995000	0.50966	0.902000	0.53008	7.811000	0.86092	2.559000	0.86315	0.561000	0.74099	GAG		0.592	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		A	47441885	C	A	47441885	4	1	249	1	0	0	0	0	0	1	0	0	12690	922	32	3	274	3	PSMC3	11	47441885	Nonsense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09		47441885	87564631	11	13817											
PKNOX2	63876	genome.wustl.edu	37	11	125237800	125237800	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr11:125237800C>T	ENST00000298282.9	+	5	417	c.146C>T	c.(145-147)tCa>tTa	p.S49L	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Intron	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	49					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.S49L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TCTGCCCCCTCAGCTGCTGCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											55	65	62					11																	125237800		2086	4207	6293	124743010	SO:0001583	missense	63876			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.146C>T	11.37:g.125237800C>T	ENSP00000298282:p.Ser49Leu		124743010	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124762	0.37533	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000535518	T;T;T	0.55234	0.53;0.53;0.53	5.49	5.49	0.81192	.	0.274240	0.36555	N	0.002538	T	0.43433	0.1247	L	0.29908	0.895	0.80722	D	1	B	0.20261	0.043	B	0.17433	0.018	T	0.21518	-1.0243	10	0.24483	T	0.36	-1.2563	18.1483	0.89665	0.0:1.0:0.0:0.0	.	49	Q96KN3	PKNX2_HUMAN	L	20;20;49;37	ENSP00000434732:S20L;ENSP00000433971:S20L;ENSP00000298282:S49L	ENSP00000298282:S49L	S	+	2	0	PKNOX2	124743010	1.000000	0.71417	0.913000	0.36048	0.755000	0.42902	6.828000	0.75308	2.564000	0.86499	0.563000	0.77884	TCA		0.632	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			T	125237800	C	T	125237800	3	4	249	1	0	0	0	0	1	0	0	0	11983	838	29	2	152	2	PKNOX2	11	125237800	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09	77795915	125237800	9768716	12	13818											
PTPRO	5800	genome.wustl.edu	37	12	15661551	15661551	+	Silent	SNP	C	C	T	rs140514339		TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr12:15661551C>T	ENST00000281171.4	+	7	1644	c.1314C>T	c.(1312-1314)caC>caT	p.H438H	PTPRO_ENST00000543886.1_Silent_p.H438H|PTPRO_ENST00000348962.2_Silent_p.H438H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	438	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.H438H(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AGCCGCAGCACGTGAGTGTCC	0.502													C|||	1	0.000199681	0	0	5008	,	,		18975	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	12						C	,	1,4405	2.1+/-5.4	0,1,2202	92	85	87		1314,1314	-5.9	0.8	12	dbSNP_134	87	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRO	NM_002848.3,NM_030667.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	438/1189,438/1217	15661551	1,13005	2203	4300	6503	15552818	SO:0001819	synonymous_variant	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1314C>T	12.37:g.15661551C>T			15552818	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	CCDS8675.1																																																																																				0.502	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			T	15661551	C	T	15661551	2	4	249	1	0	0	0	0	0	0	0	1	12812	535	19	1		1	PTPRO	12	15661551	Silent	SNP	C	TCGA-24-1562-01A-01W-0553-09		15661551	118190344	13	13819											
DCN	1634	genome.wustl.edu	37	12	91558418	91558418	+	Silent	SNP	G	G	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr12:91558418G>T	ENST00000052754.5	-	3	789	c.288C>A	c.(286-288)atC>atA	p.I96I	DCN_ENST00000425043.1_Intron|DCN_ENST00000552962.1_Silent_p.I96I|DCN_ENST00000420120.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000393155.1_Silent_p.I96I|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Silent_p.I96I|DCN_ENST00000441303.2_Silent_p.I96I	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	96					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.I96I(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTCCATCTTTGATTTCGGTTA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	12											156	139	145					12																	91558418		2203	4300	6503	90082549	SO:0001819	synonymous_variant	1634			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.288C>A	12.37:g.91558418G>T			90082549	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Silent	SNP	ENST00000052754.5	37	CCDS9039.1																																																																																				0.373	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		T	91558418	G	T	91558418	2	4	249	1	0	0	0	0	0	0	0	1	4297	1280	45	3		3	DCN	12	91558418	Silent	SNP	G	TCGA-24-1562-01A-01W-0553-09	75896867	91558418	42293477	14	13820											
ABHD13	84945	genome.wustl.edu	37	13	108881820	108881820	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr13:108881820C>T	ENST00000375898.3	+	2	555	c.254C>T	c.(253-255)cCa>cTa	p.P85L		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	85						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.P85L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACTGGCATTCCACATGAAAAC	0.378																																					Pancreas(22;506 789 38166 45896 51596)											1	Substitution - Missense(1)	ovary(1)	13											95	94	94					13																	108881820		2203	4299	6502	107679821	SO:0001583	missense	84945			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"Abhydrolase domain containing"	20293	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 6"	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.254C>T	13.37:g.108881820C>T	ENSP00000365063:p.Pro85Leu		107679821	B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	37	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275687	0.59649	.	.	ENSG00000139826	ENST00000375898	T	0.46451	0.87	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.80508	2.5	0.80722	D	1	P	0.42483	0.781	B	0.37387	0.248	T	0.58803	-0.7572	10	0.66056	D	0.02	-16.737	19.2409	0.93883	0.0:1.0:0.0:0.0	.	85	Q7L211	ABHDD_HUMAN	L	85	ENSP00000365063:P85L	ENSP00000365063:P85L	P	+	2	0	ABHD13	107679821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.393000	0.79851	2.788000	0.95919	0.557000	0.71058	CCA		0.378	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		T	108881820	C	T	108881820	3	4	249	1	0	0	0	0	1	0	0	0	78	594	21	2	256	2	ABHD13	13	108881820	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09		108881820	6288058	15	13821											
SERPINA5	5104	genome.wustl.edu	37	14	95058502	95058502	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr14:95058502G>A	ENST00000554866.1	+	5	1261	c.1147G>A	c.(1147-1149)Gtg>Atg	p.V383M	SERPINA5_ENST00000329597.7_Missense_Mutation_p.V383M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.V383M|RP11-986E7.7_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Missense_Mutation_p.V383M			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	383					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.V383M(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)	TCAGAGGCTAGTGTTCAACAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	14											234	246	242					14																	95058502		2203	4300	6503	94128255	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.1147G>A	14.37:g.95058502G>A	ENSP00000451126:p.Val383Met		94128255	Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444632	0.25987	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.49	-1.01	0.10169	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	1.265590	0.05593	N	0.575048	T	0.77003	0.4067	L	0.41236	1.265	0.09310	N	1	B	0.24675	0.109	B	0.24006	0.05	T	0.59359	-0.7469	10	0.34782	T	0.22	.	4.8561	0.13561	0.5012:0.0:0.3496:0.1492	.	383	P05154	IPSP_HUMAN	M	383;383;383;235;307;383	ENSP00000450837:V383M;ENSP00000451126:V383M;ENSP00000333203:V383M;ENSP00000451610:V383M	ENSP00000333203:V383M	V	+	1	0	SERPINA5	94128255	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.132000	0.03235	-0.156000	0.11079	0.655000	0.94253	GTG		0.547	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		A	95058502	G	A	95058502	3	1	249	1	0	0	0	0	1	0	0	0	14095	1029	36	2	1161	2	SERPINA5	14	95058502	Missense_Mutation	SNP	G	TCGA-24-1562-01A-01W-0553-09		95058502	12291038	16	13822											
XPO6	23214	genome.wustl.edu	37	16	28123239	28123239	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr16:28123239C>T	ENST00000304658.5	-	17	2740	c.2240G>A	c.(2239-2241)cGc>cAc	p.R747H	XPO6_ENST00000565698.1_Missense_Mutation_p.R733H	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	747					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTTGATGGAGCGCACGGGCCA	0.587																																																0			16											72	79	77					16																	28123239		2107	4229	6336	28030740	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2240G>A	16.37:g.28123239C>T	ENSP00000302790:p.Arg747His		28030740	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136003	0.94517	.	.	ENSG00000169180	ENST00000304658	T	0.73152	-0.72	5.77	4.82	0.62117	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	T	0.78663	-0.2116	10	0.27785	T	0.31	-12.3173	12.717	0.57121	0.0:0.9205:0.0:0.0795	.	747;747	B7ZM10;Q96QU8	.;XPO6_HUMAN	H	747	ENSP00000302790:R747H	ENSP00000302790:R747H	R	-	2	0	XPO6	28030740	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.607000	0.82883	1.462000	0.47948	0.650000	0.86243	CGC		0.587	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		T	28123239	C	T	28123239	3	4	249	1	0	0	0	0	1	0	0	0	17448	768	27	1	1169	1	XPO6	16	28123239	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09		28123239	62231514	17	13823											
ZNF267	10308	genome.wustl.edu	37	16	31927249	31927249	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr16:31927249G>C	ENST00000300870.10	+	4	1888	c.1679G>C	c.(1678-1680)aGt>aCt	p.S560T		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	560					multicellular organismal development (GO:0007275)|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.S560T(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TTTCCTTATAGTTCACACCTT	0.353																																																1	Substitution - Missense(1)	ovary(1)	16											53	55	54					16																	31927249		2197	4300	6497	31834750	SO:0001583	missense	10308			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1679G>C	16.37:g.31927249G>C	ENSP00000300870:p.Ser560Thr		31834750	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	3.360	-0.130666	0.06753	.	.	ENSG00000185947	ENST00000300870	T	0.07567	3.18	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	L	0.48218	1.51	0.09310	N	0.999999	B	0.15141	0.012	B	0.06405	0.002	T	0.35724	-0.9777	9	0.29301	T	0.29	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	560	Q14586	ZN267_HUMAN	T	560	ENSP00000300870:S560T	ENSP00000300870:S560T	S	+	2	0	ZNF267	31834750	0.000000	0.05858	0.119000	0.21687	0.111000	0.19643	-1.547000	0.02186	0.482000	0.27582	0.484000	0.47621	AGT		0.353	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		C	31927249	G	C	31927249	3	2	249	1	0	0	0	0	1	0	0	0	17806	1029	36	3	1693	3	ZNF267	16	31927249	Missense_Mutation	SNP	G	TCGA-24-1562-01A-01W-0553-09	3804010	31927249	58427504	18	13824											
TP53	7157	genome.wustl.edu	37	17	7579592	7579592	+	Splice_Site	SNP	T	T	A			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr17:7579592T>A	ENST00000269305.4	-	4	286		c.e4-2		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)	CAAGGGGGACTGTAGATGGGT	0.597		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"	25	Unknown(15)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	lung(8)|liver(4)|bone(4)|central_nervous_system(3)|upper_aerodigestive_tract(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	17											139	135	137					17																	7579592		2203	4300	6503	7520317	SO:0001630	splice_region_variant	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.97-2A>T	17.37:g.7579592T>A			7520317	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.950	0.967875	0.18659	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.45005	D	0.998021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8383	0.35126	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520317	0.924000	0.31332	0.022000	0.16811	0.019000	0.09904	1.202000	0.32271	1.873000	0.54277	0.459000	0.35465	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7579592	T	A	7579592	5	1	249	1	0	0	0	0	0	0	1	0	16381	1594	55	5	1207	5	TP53	17	7579592	Splice_Site	SNP	T	TCGA-24-1562-01A-01W-0553-09		7579592	73615618	19	13825											
NF1	4763	genome.wustl.edu	37	17	29663789	29663790	+	Frame_Shift_Ins	INS	-	-	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	-	-	-	T	-	-	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr17:29663789_29663790insT	ENST00000358273.4	+	42	6667_6668	c.6284_6285insT	c.(6283-6288)gatgtgfs	p.V2096fs	NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Frame_Shift_Ins_p.V2075fs|NF1_ENST00000417592.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2096					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.V2096fs*24(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTCCCTTGATGTGGCAGCTC	0.441			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Insertion - Frameshift(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17																																								26687916	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6285dupT	17.37:g.29663790_29663790dupT	ENSP00000351015:p.Val2096fs		26687915	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	CCDS42292.1																																																																																				0.441	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29663790	-	T	29663789	7	5	249	1	0	1	1	0	0	0	0	0	10356	333	12	0	6511	0	NF1	17	29663789	Frame_Shift_Ins	INS	-	TCGA-24-1562-01A-01W-0553-09	22084197	29663789	51531421	20	13826											
VEZF1	7716	genome.wustl.edu	37	17	56056655	56056655	+	Silent	SNP	G	G	A			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr17:56056655G>A	ENST00000581208.1	-	5	1036	c.996C>T	c.(994-996)acC>acT	p.T332T	VEZF1_ENST00000584396.1_Silent_p.T323T	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	332					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T332T(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TTTGGTTACTGGTCTCTTCAC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	17											95	100	98					17																	56056655		2203	4300	6503	53411654	SO:0001819	synonymous_variant	7716			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.996C>T	17.37:g.56056655G>A			53411654		Silent	SNP	ENST00000581208.1	37	CCDS32687.1																																																																																				0.433	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			A	56056655	G	A	56056655	2	1	249	1	0	0	0	0	0	0	0	1	17155	1335	47	2		2	VEZF1	17	56056655	Silent	SNP	G	TCGA-24-1562-01A-01W-0553-09	26392866	56056655	25138555	21	13827											
ALPK2	115701	genome.wustl.edu	37	18	56204113	56204113	+	Silent	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr18:56204113C>T	ENST00000361673.3	-	5	3519	c.3306G>A	c.(3304-3306)caG>caA	p.Q1102Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1102						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q1102Q(1)|p.Q463Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGTTATCAACCTGAAGAGGGG	0.502																																																2	Substitution - coding silent(2)	ovary(2)	18											169	186	181					18																	56204113		2203	4300	6503	54355093	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3306G>A	18.37:g.56204113C>T			54355093	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.502	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56204113	C	T	56204113	2	4	249	1	0	0	0	0	0	0	0	1	545	680	24	2		2	ALPK2	18	56204113	Silent	SNP	C	TCGA-24-1562-01A-01W-0553-09		56204113	21873135	22	13828											
TNPO2	30000	genome.wustl.edu	37	19	12814323	12814323	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr19:12814323G>C	ENST00000592287.1	-	19	2236	c.2128C>G	c.(2128-2130)Ctg>Gtg	p.L710V	SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000356861.5_Missense_Mutation_p.L710V|TNPO2_ENST00000588216.1_Missense_Mutation_p.L710V|TNPO2_ENST00000441499.1_Missense_Mutation_p.L710V|TNPO2_ENST00000450764.2_Missense_Mutation_p.L710V|TNPO2_ENST00000425528.1_Missense_Mutation_p.L710V	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	710					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.L710V(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGGTGCCCAGAATGGGCATG	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											108	117	114					19																	12814323		2013	4182	6195	12675323	SO:0001583	missense	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2128C>G	19.37:g.12814323G>C	ENSP00000468434:p.Leu710Val		12675323	O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546781	0.45383	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000546320	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.5	1.77	0.24775	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	M	0.88640	2.97	0.58432	D	0.999999	P;P	0.43392	0.73;0.805	B;P	0.44732	0.303;0.459	T	0.61978	-0.6951	10	0.54805	T	0.06	-11.3565	9.7922	0.40713	0.3117:0.0:0.6883:0.0	.	874;710	Q4LE60;O14787	.;TNPO2_HUMAN	V	874;710;710;710;710;710	ENSP00000407182:L710V;ENSP00000389648:L710V;ENSP00000397379:L710V;ENSP00000349321:L710V	ENSP00000349321:L710V	L	-	1	2	TNPO2	12675323	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.050000	0.30404	0.699000	0.31761	-0.137000	0.14449	CTG		0.592	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		C	12814323	G	C	12814323	3	2	249	1	0	0	0	0	1	0	0	0	16336	933	33	3	589	3	TNPO2	19	12814323	Missense_Mutation	SNP	G	TCGA-24-1562-01A-01W-0553-09		12814323	46314660	23	13829											
KIR2DL3	3804	genome.wustl.edu	37	19	55263912	55263912	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr19:55263912C>T	ENST00000342376.3	+	8	998	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	323					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P323S(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TTCTCAGAGGCCCAAGACACC	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											171	190	184					19																	55263912		2043	4005	6048	59955724	SO:0001583	missense	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.967C>T	19.37:g.55263912C>T	ENSP00000342215:p.Pro323Ser		59955724	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	C	1.896	-0.454278	0.04540	.	.	ENSG00000243772	ENST00000342376	T	0.00456	7.3	0.909	-1.54	0.08584	.	.	.	.	.	T	0.00210	0.0006	N	0.20328	0.56	0.09310	N	1	B;B;B	0.26876	0.012;0.162;0.162	B;B;B	0.23275	0.013;0.045;0.045	T	0.28808	-1.0032	9	0.45353	T	0.12	.	3.9292	0.09276	0.0:0.4636:0.0:0.5364	.	225;323;323	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	S	323	ENSP00000342215:P323S	ENSP00000342215:P323S	P	+	1	0	KIR2DL3	59955724	0.000000	0.05858	0.003000	0.11579	0.052000	0.14988	0.031000	0.13710	-0.567000	0.06046	0.298000	0.19748	CCC		0.507	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			T	55263912	C	T	55263912	3	4	249	1	0	0	0	0	1	0	0	0	8317	739	26	2	997	2	KIR2DL3	19	55263912	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09	42449589	55263912	3865071	24	13830											
PROKR2	128674	genome.wustl.edu	37	20	5282949	5282949	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr20:5282949G>A	ENST00000217270.3	-	2	891	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	PROKR2_ENST00000546004.1_Missense_Mutation_p.R298C	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	298					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R298C(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGAAGTCACGAACGATGGTG	0.562										HNSCC(71;0.22)																																						2	Substitution - Missense(2)	ovary(1)|skin(1)	20											153	114	127					20																	5282949		2203	4300	6503	5230949	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.892C>T	20.37:g.5282949G>A	ENSP00000217270:p.Arg298Cys		5230949	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550422	0.86127	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.72942	-0.7;-0.7	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83251	-0.0053	10	0.37606	T	0.19	.	15.9064	0.79433	0.0:0.0:1.0:0.0	.	298	Q8NFJ6	PKR2_HUMAN	C	298	ENSP00000440790:R298C;ENSP00000217270:R298C	ENSP00000217270:R298C	R	-	1	0	PROKR2	5230949	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.275000	0.72594	2.370000	0.80446	0.655000	0.94253	CGT		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		A	5282949	G	A	5282949	3	1	249	1	0	0	0	0	1	0	0	0	12556	1058	37	1	265	1	PROKR2	20	5282949	Missense_Mutation	SNP	G	TCGA-24-1562-01A-01W-0553-09		5282949	57742571	25	13831											
ESF1	51575	genome.wustl.edu	37	20	13753204	13753204	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr20:13753204C>T	ENST00000202816.1	-	5	1314	c.1207G>A	c.(1207-1209)Gta>Ata	p.V403I		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V403I(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						AATAGCTCTACTGGTCCTTGA	0.328																																																1	Substitution - Missense(1)	ovary(1)	20											187	179	182					20																	13753204		2203	4300	6503	13701204	SO:0001583	missense	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1207G>A	20.37:g.13753204C>T	ENSP00000202816:p.Val403Ile		13701204	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983104	0.34942	.	.	ENSG00000089048	ENST00000202816	T	0.78481	-1.18	5.53	4.57	0.56435	.	0.614883	0.17360	N	0.177041	T	0.56077	0.1961	N	0.11560	0.145	0.09310	N	0.999996	B	0.30406	0.278	B	0.24974	0.057	T	0.44483	-0.9325	10	0.33940	T	0.23	-4.6795	8.3937	0.32544	0.0:0.6231:0.2521:0.1248	.	403	Q9H501	ESF1_HUMAN	I	403	ENSP00000202816:V403I	ENSP00000202816:V403I	V	-	1	0	ESF1	13701204	0.635000	0.27199	1.000000	0.80357	0.998000	0.95712	0.458000	0.21892	2.755000	0.94549	0.650000	0.86243	GTA		0.328	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		T	13753204	C	T	13753204	3	4	249	1	0	0	0	0	1	0	0	0	5251	565	20	2	1388	2	ESF1	20	13753204	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09	8470255	13753204	49272316	26	13832											
CHEK2	11200	genome.wustl.edu	37	22	29092947	29092947	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chr22:29092947C>T	ENST00000405598.1	-	11	1228	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	CHEK2_ENST00000328354.6_Missense_Mutation_p.R346H|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.R255H|CHEK2_ENST00000382578.1_Missense_Mutation_p.R255H|CHEK2_ENST00000404276.1_Missense_Mutation_p.R346H|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.R125H|CHEK2_ENST00000382580.2_Missense_Mutation_p.R389H|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.R346H(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTTTAAGTCACGGTGTATAAT	0.388			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	1	Substitution - Missense(1)	ovary(1)	22											136	115	122					22																	29092947		2203	4300	6503	27422947	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1037G>A	22.37:g.29092947C>T	ENSP00000386087:p.Arg346His		27422947	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.330264|5.330264	0.95733|0.95733	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000447421|ENST00000434810	T;T;T;T;T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19|.	5.65|5.65	5.65|5.65	0.86999|0.86999	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|.	D|D	0.90359|0.90359	0.6983|0.6983	H|H	0.97758|0.97758	4.07|4.07	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;1.0;0.999;1.0;1.0|.	D|D	0.93393|0.93393	0.6753|0.6753	10|5	0.87932|.	D|.	0|.	-1.4542|-1.4542	18.7264|18.7264	0.91716|0.91716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	255;125;346;346;389|.	O96017-4;Q9HBS5;A8JZZ5;O96017;O96017-9|.	.;.;.;CHK2_HUMAN;.|.	H|M	255;125;346;346;346;389;255;279|90	ENSP00000372021:R255H;ENSP00000442458:R125H;ENSP00000329178:R346H;ENSP00000385747:R346H;ENSP00000386087:R346H;ENSP00000372023:R389H;ENSP00000384919:R255H;ENSP00000397478:R279H|.	ENSP00000329178:R346H|.	R|V	-|-	2|1	0|0	CHEK2|CHEK2	27422947|27422947	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.911000|0.911000	0.54048|0.54048	6.128000|6.128000	0.71650|0.71650	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.388	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		T	29092947	C	T	29092947	3	4	249	1	0	0	0	0	1	0	0	0	3335	536	19	1	618	1	CHEK2	22	29092947	Missense_Mutation	SNP	C	TCGA-24-1562-01A-01W-0553-09		29092947	22211619	27	13833											
MUM1L1	139221	genome.wustl.edu	37	X	105451021	105451021	+	Silent	SNP	C	C	G			TCGA-24-1562-01A-01W-0553-09	TCGA-24-1562-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	5e49bcea-9c1d-4cfd-a64c-4b84859bdda5	966af8f6-0208-4d00-9ece-65fae58a1c2d	g.chrX:105451021C>G	ENST00000357175.2	+	4	2245	c.1596C>G	c.(1594-1596)acC>acG	p.T532T	MUM1L1_ENST00000337685.2_Silent_p.T532T|MUM1L1_ENST00000372552.1_Silent_p.T532T	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	532						extracellular vesicular exosome (GO:0070062)		p.T532T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTTCCCAGACCAAGAAAATGT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	X											61	53	56					X																	105451021		1857	4082	5939	105337677	SO:0001819	synonymous_variant	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1596C>G	X.37:g.105451021C>G			105337677	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	ENST00000357175.2	37	CCDS55469.1																																																																																				0.458	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		G	105451021	C	G	105451021	2	3	249	1	0	0	0	0	0	0	0	1	9986	581	21	3		3	MUM1L1	23	105451021	Silent	SNP	C	TCGA-24-1562-01A-01W-0553-09		105451021	49819539	28	13834											
TAS1R1	80835	genome.wustl.edu	37	1	6631275	6631275	+	Splice_Site	SNP	G	G	C			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr1:6631275G>C	ENST00000333172.6	+	2	691	c.498G>C	c.(496-498)atG>atC	p.M166I	TAS1R1_ENST00000351136.3_Splice_Site_p.M166I|TAS1R1_ENST00000328191.4_Splice_Site_p.M166I	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	166					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.M166I(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGGTGCCCATGGTAAGCTGGA	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											58	56	56					1																	6631275		2203	4300	6503	6553862	SO:0001630	splice_region_variant	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.498+1G>C	1.37:g.6631275G>C			6553862	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.79|11.79|11.79	1.742508|1.742508|1.742508	0.30865|0.30865|0.30865	.|.|.	.|.|.	ENSG00000173662|ENSG00000173662|ENSG00000173662	ENST00000415267|ENST00000333172;ENST00000328191;ENST00000437392;ENST00000351136|ENST00000411823	.|D;D;D|.	.|0.83250|.	.|-1.7;-1.7;-1.7|.	5.01|5.01|5.01	5.01|5.01|5.01	0.66863|0.66863|0.66863	.|Extracellular ligand-binding receptor (1);|.	.|0.293996|.	.|0.32901|.	.|N|.	.|0.005509|.	T|T|.	0.33904|0.33904|.	0.0879|0.0879|.	N|N|N	0.16266|0.16266|0.16266	0.395|0.395|0.395	0.30117|0.30117|0.30117	N|N|N	0.806052|0.806052|0.806052	.|B;B;B;B|.	.|0.15473|.	.|0.013;0.007;0.0;0.002|.	.|B;B;B;B|.	.|0.19666|.	.|0.007;0.026;0.002;0.007|.	T|T|.	0.24548|0.24548|.	-1.0157|-1.0157|.	5|10|.	.|0.28530|.	.|T|.	.|0.3|.	.|.|.	15.0652|15.0652|15.0652	0.71989|0.71989|0.71989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|166;166;166;166|.	.|Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1|.	.|.;.;.;TS1R1_HUMAN|.	S|I|S	92|166;166;88;166|92	.|ENSP00000331867:M166I;ENSP00000327705:M166I;ENSP00000312558:M166I|.	.|ENSP00000327705:M166I|.	C|M|X	+|+|+	2|3|2	0|0|2	TAS1R1|TAS1R1|TAS1R1	6553862|6553862|6553862	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.668000|0.668000|0.668000	0.39293|0.39293|0.39293	5.775000|5.775000|5.775000	0.68915|0.68915|0.68915	2.281000|2.281000|2.281000	0.76405|0.76405|0.76405	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	TGC|ATG|TGA		0.637	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		Missense_Mutation	C	6631275	G	C	6631275	5	2	250	1	0	0	0	0	0	0	1	0	15562	1362	47	3	504	3	TAS1R1	1	6631275	Splice_Site	SNP	G	TCGA-24-1563-01A-01W-0553-09		6631275	242619346	1	13835											
CAMTA1	23261	genome.wustl.edu	37	1	6885168	6885168	+	Silent	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr1:6885168C>T	ENST00000303635.7	+	3	339	c.132C>T	c.(130-132)agC>agT	p.S44S	CAMTA1_ENST00000439411.2_Silent_p.S44S|CAMTA1_ENST00000467404.2_Silent_p.S56S|CAMTA1_ENST00000476163.1_3'UTR|CAMTA1_ENST00000557126.1_Silent_p.S44S|CAMTA1_ENST00000473578.1_Silent_p.S44S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S44S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATGGGAACAGCAATAGTAGTC	0.343			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - coding silent(1)	ovary(1)	1											64	68	66					1																	6885168		2203	4300	6503	6807755	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.132C>T	1.37:g.6885168C>T			6807755	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1																																																																																				0.343	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		T	6885168	C	T	6885168	2	4	250	1	0	0	0	0	0	0	0	1	2613	709	25	2		2	CAMTA1	1	6885168	Silent	SNP	C	TCGA-24-1563-01A-01W-0553-09	253893	6885168	242365453	2	13836											
C1orf172	126695	genome.wustl.edu	37	1	27278400	27278400	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr1:27278400T>C	ENST00000320567.5	-	2	560	c.472A>G	c.(472-474)Agc>Ggc	p.S158G		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		158					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)		p.S158G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TAGCTGAAGCTGCTGCCCATG	0.647																																																1	Substitution - Missense(1)	ovary(1)	1											40	44	43					1																	27278400		2203	4300	6503	27150987	SO:0001583	missense	126695																														ENST00000320567.5:c.472A>G	1.37:g.27278400T>C	ENSP00000319179:p.Ser158Gly		27150987	Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	CCDS293.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937959	0.73557	.	.	ENSG00000175707	ENST00000320567	T	0.33216	1.42	5.05	5.05	0.67936	.	0.082235	0.85682	D	0.000000	T	0.42154	0.1190	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43343	-0.9397	10	0.72032	D	0.01	.	14.9594	0.71144	0.0:0.0:0.0:1.0	.	158	Q8NAX2	CA172_HUMAN	G	158	ENSP00000319179:S158G	ENSP00000319179:S158G	S	-	1	0	C1orf172	27150987	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.187000	0.77730	2.114000	0.64651	0.528000	0.53228	AGC		0.647	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			C	27278400	T	C	27278400	3	2	250	1	0	0	0	0	1	0	0	0	2013	1580	55	4	736	4	C1orf172	1	27278400	Missense_Mutation	SNP	T	TCGA-24-1563-01A-01W-0553-09	20393232	27278400	221972221	3	13837											
C1orf52	148423	genome.wustl.edu	37	1	85725076	85725076	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr1:85725076C>G	ENST00000471115.1	-	1	249	c.241G>C	c.(241-243)Gac>Cac	p.D81H	C1orf52_ENST00000344356.5_Missense_Mutation_p.D81H|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	81							poly(A) RNA binding (GO:0044822)	p.D81H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CTCTCCCAGTCTATCTGTTTG	0.642											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											53	59	57					1																	85725076		2203	4300	6503	85497664	SO:0001583	missense	148423			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.241G>C	1.37:g.85725076C>G	ENSP00000419417:p.Asp81His	1239	85497664	B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	CCDS703.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019527	0.93462	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.919	T	0.75516	-0.3290	9	0.87932	D	0	-4.5507	19.6692	0.95905	0.0:1.0:0.0:0.0	.	81;81	Q8N6N3-2;Q8N6N3	.;CA052_HUMAN	H	81	.	ENSP00000345092:D81H	D	-	1	0	C1orf52	85497664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.851000	0.75425	2.722000	0.93159	0.637000	0.83480	GAC		0.642	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		G	85725076	C	G	85725076	3	3	250	1	0	0	0	0	1	0	0	0	2044	913	32	3	319	3	C1orf52	1	85725076	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	58446676	85725076	163525545	4	13838											
SV2A	9900	genome.wustl.edu	37	1	149880761	149880761	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr1:149880761C>A	ENST00000369146.3	-	8	1852	c.1362G>T	c.(1360-1362)tgG>tgT	p.W454C	SV2A_ENST00000369145.1_Missense_Mutation_p.W454C	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	454					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.W454C(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACATGGTGAACCACACACCCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											548	434	473					1																	149880761		2203	4300	6503	148147385	SO:0001583	missense	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1362G>T	1.37:g.149880761C>A	ENSP00000358142:p.Trp454Cys		148147385	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735366	0.69189	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.58797	0.31;0.31	4.55	4.55	0.56014	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.276731	0.37577	N	0.002037	T	0.79263	0.4416	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84970	0.0882	10	0.72032	D	0.01	-9.9713	14.8472	0.70270	0.0:1.0:0.0:0.0	.	454	Q7L0J3	SV2A_HUMAN	C	454	ENSP00000358142:W454C;ENSP00000358141:W454C	ENSP00000358141:W454C	W	-	3	0	SV2A	148147385	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.281000	0.78621	2.375000	0.81037	0.491000	0.48974	TGG		0.537	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			A	149880761	C	A	149880761	3	1	250	1	0	0	0	0	1	0	0	0	15417	508	18	3	890	3	SV2A	1	149880761	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	64155685	149880761	99369860	5	13839											
SV2A	9900	genome.wustl.edu	37	1	149881353	149881353	+	Splice_Site	SNP	T	T	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr1:149881353T>G	ENST00000369146.3	-	6	1669	c.1179A>C	c.(1177-1179)tcA>tcC	p.S393S	SV2A_ENST00000369145.1_Splice_Site_p.S393S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	393					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.S393S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGTGGCTTACTGAGAACACTC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	1											197	155	169					1																	149881353		2203	4300	6503	148147977	SO:0001630	splice_region_variant	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1179+1A>C	1.37:g.149881353T>G			148147977	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	CCDS940.1																																																																																				0.587	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1		Silent	G	149881353	T	G	149881353	5	3	250	1	0	0	0	0	0	0	1	0	15417	1594	55	5	1081	5	SV2A	1	149881353	Splice_Site	SNP	T	TCGA-24-1563-01A-01W-0553-09	592	149881353	99369268	6	13840											
ITLN1	55600	genome.wustl.edu	37	1	160851956	160851956	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr1:160851956A>T	ENST00000326245.3	-	4	311	c.196T>A	c.(196-198)Tac>Aac	p.Y66N	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	66	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)	p.Y66N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGGTCTGGTAGATAACACCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											85	75	79					1																	160851956		2203	4300	6503	159118580	SO:0001583	missense	55600			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.196T>A	1.37:g.160851956A>T	ENSP00000323587:p.Tyr66Asn		159118580	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.807196	0.70797	.	.	ENSG00000179914	ENST00000326245	T	0.17854	2.25	4.17	4.17	0.49024	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000020	T	0.39064	0.1064	M	0.91920	3.255	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	T	0.50591	-0.8810	10	0.87932	D	0	-15.499	11.2047	0.48762	1.0:0.0:0.0:0.0	.	66	Q8WWA0	ITLN1_HUMAN	N	66	ENSP00000323587:Y66N	ENSP00000323587:Y66N	Y	-	1	0	ITLN1	159118580	1.000000	0.71417	0.985000	0.45067	0.909000	0.53808	6.406000	0.73276	1.729000	0.51567	0.533000	0.62120	TAC		0.577	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		T	160851956	A	T	160851956	3	4	250	1	0	0	0	0	1	0	0	0	7910	420	15	5	765	5	ITLN1	1	160851956	Missense_Mutation	SNP	A	TCGA-24-1563-01A-01W-0553-09	10970603	160851956	88398665	7	13841											
QSOX1	5768	genome.wustl.edu	37	1	180165603	180165603	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr1:180165603G>A	ENST00000367602.3	+	12	1749	c.1675G>A	c.(1675-1677)Gca>Aca	p.A559T	QSOX1_ENST00000367600.5_Missense_Mutation_p.A559T			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	559					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.A559T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCAGAATGTGGCAGCCGCCCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											83	91	88					1																	180165603		2203	4300	6503	178432226	SO:0001583	missense	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1675G>A	1.37:g.180165603G>A	ENSP00000356574:p.Ala559Thr		178432226	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398242	0.25205	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.05580	3.56;3.42	5.12	2.23	0.28157	.	1.422770	0.04128	N	0.317384	T	0.06325	0.0163	L	0.29908	0.895	0.09310	N	1	P;P;B;P	0.41848	0.647;0.651;0.319;0.763	B;B;B;B	0.39027	0.131;0.15;0.073;0.288	T	0.43015	-0.9417	10	0.15499	T	0.54	1.1069	9.1484	0.36948	0.2432:0.0:0.7568:0.0	.	559;559;559;559	A8K4C2;A8K477;O00391;O00391-2	.;.;QSOX1_HUMAN;.	T	559	ENSP00000356574:A559T;ENSP00000356572:A559T	ENSP00000356572:A559T	A	+	1	0	QSOX1	178432226	0.395000	0.25254	0.002000	0.10522	0.160000	0.22226	2.988000	0.49386	0.191000	0.20236	-0.350000	0.07774	GCA		0.602	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		A	180165603	G	A	180165603	3	1	250	1	0	0	0	0	1	0	0	0	12886	1203	42	2	1721	2	QSOX1	1	180165603	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09	19313647	180165603	69085018	8	13842											
KIAA1614	57710	genome.wustl.edu	37	1	180904835	180904835	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr1:180904835C>T	ENST00000367588.4	+	5	1845	c.1790C>T	c.(1789-1791)aCa>aTa	p.T597I	KIAA1614_ENST00000367587.1_Missense_Mutation_p.T218I	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	597								p.T597I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ATCCGGGAAACACACATCGGA	0.647																																																1	Substitution - Missense(1)	ovary(1)	1											23	27	26					1																	180904835		2133	4235	6368	179171458	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1790C>T	1.37:g.180904835C>T	ENSP00000356560:p.Thr597Ile		179171458	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.227324	0.58668	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.55588	1.02;0.51	4.96	4.04	0.47022	.	0.272260	0.34628	N	0.003814	T	0.56124	0.1964	L	0.59436	1.845	0.31950	N	0.609747	P	0.46912	0.886	P	0.48795	0.59	T	0.70648	-0.4814	9	0.87932	D	0	-6.5076	11.2928	0.49261	0.0:0.9133:0.0:0.0867	.	597	Q5VZ46	K1614_HUMAN	I	597;218	ENSP00000356560:T597I;ENSP00000356559:T218I	ENSP00000356559:T218I	T	+	2	0	KIAA1614	179171458	0.982000	0.34865	0.932000	0.37286	0.449000	0.32228	2.634000	0.46528	1.073000	0.40885	-0.265000	0.10407	ACA		0.647	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180904835	C	T	180904835	3	4	250	1	0	0	0	0	1	0	0	0	8248	478	17	2	1808	2	KIAA1614	1	180904835	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	739232	180904835	68345786	9	13843											
COBLL1	22837	genome.wustl.edu	37	2	165559646	165559646	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr2:165559646C>A	ENST00000392717.2	-	10	1428	c.1424G>T	c.(1423-1425)gGg>gTg	p.G475V	COBLL1_ENST00000194871.6_Missense_Mutation_p.G503V|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Missense_Mutation_p.G437V|COBLL1_ENST00000375458.2_Intron|COBLL1_ENST00000409184.3_Intron			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	475						extracellular vesicular exosome (GO:0070062)		p.G437V(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTCAGGTGTCCCAGGGCACTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											164	151	155					2																	165559646		2203	4300	6503	165267892	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1424G>T	2.37:g.165559646C>A	ENSP00000376478:p.Gly475Val		165267892	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	C	16.15	3.041593	0.55003	.	.	ENSG00000082438	ENST00000342193;ENST00000392717;ENST00000194871	.	.	.	4.71	2.88	0.33553	.	0.330064	0.26863	N	0.022105	T	0.30198	0.0757	L	0.29908	0.895	0.58432	D	0.999997	P	0.50272	0.933	B	0.42386	0.386	T	0.03630	-1.1018	9	0.27785	T	0.31	-12.4063	4.5472	0.12087	0.0:0.6287:0.2149:0.1563	.	503	B7Z2P5	.	V	437;475;503	.	ENSP00000194871:G503V	G	-	2	0	COBLL1	165267892	0.410000	0.25376	0.974000	0.42286	0.393000	0.30537	-0.107000	0.10873	1.318000	0.45170	0.650000	0.86243	GGG		0.507	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		A	165559646	C	A	165559646	3	1	250	1	0	0	0	0	1	0	0	0	3654	623	22	3	2214	3	COBLL1	2	165559646	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09		165559646	77639727	10	13844											
COPS7B	64708	genome.wustl.edu	37	2	232660972	232660972	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr2:232660972A>G	ENST00000350033.3	+	5	625	c.484A>G	c.(484-486)Atc>Gtc	p.I162V	COPS7B_ENST00000410024.1_Missense_Mutation_p.I162V|COPS7B_ENST00000373608.3_Missense_Mutation_p.I162V|COPS7B_ENST00000409295.1_Missense_Mutation_p.I128V|COPS7B_ENST00000410017.1_Missense_Mutation_p.I162V|COPS7B_ENST00000409091.1_Missense_Mutation_p.I55V	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	162					cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I162V(1)		large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGGCCGTGACATCCGAAAGAA	0.478																																																1	Substitution - Missense(1)	ovary(1)	2											75	65	69					2																	232660972		2203	4300	6503	232369216	SO:0001583	missense	64708			AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B", "COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.484A>G	2.37:g.232660972A>G	ENSP00000272995:p.Ile162Val		232369216	Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	ENST00000350033.3	37	CCDS2488.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.107510	0.37145	.	.	ENSG00000144524	ENST00000410024;ENST00000409295;ENST00000409091;ENST00000350033;ENST00000412591;ENST00000410017;ENST00000373608;ENST00000537799;ENST00000449174	T;T;T;T	0.39056	1.16;1.16;1.1;1.12	5.36	5.36	0.76844	Proteasome component (PCI) domain (1);	0.133387	0.51477	D	0.000087	T	0.34106	0.0886	L	0.43152	1.355	0.43874	D	0.996488	P;B;B	0.42692	0.787;0.156;0.141	B;B;B	0.40199	0.322;0.147;0.076	T	0.13710	-1.0499	10	0.07030	T	0.85	-11.9181	15.3502	0.74376	1.0:0.0:0.0:0.0	.	162;162;162	Q53GQ2;Q9H9Q2-3;Q9H9Q2	.;.;CSN7B_HUMAN	V	162;128;55;162;107;162;162;55;26	ENSP00000386567:I162V;ENSP00000272995:I162V;ENSP00000386880:I162V;ENSP00000362710:I162V	ENSP00000272995:I162V	I	+	1	0	COPS7B	232369216	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.850000	0.62889	2.022000	0.59522	0.533000	0.62120	ATC		0.478	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730		G	232660972	A	G	232660972	3	3	250	1	0	0	0	0	1	0	0	0	3739	217	8	4	498	4	COPS7B	2	232660972	Missense_Mutation	SNP	A	TCGA-24-1563-01A-01W-0553-09	67101326	232660972	10538401	11	13845											
GIGYF2	26058	genome.wustl.edu	37	2	233660906	233660906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr2:233660906C>A	ENST00000409547.1	+	16	1925	c.1614C>A	c.(1612-1614)taC>taA	p.Y538*	GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Y369*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Y560*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Y532*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Y538*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.Y560*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Y559*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	538	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Y538*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGTGGTATTACAAAGATCCTC	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	2											133	126	129					2																	233660906		2203	4300	6503	233369150	SO:0001587	stop_gained	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1614C>A	2.37:g.233660906C>A	ENSP00000386537:p.Tyr538*		233369150	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	37	6.409317	0.97542	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	.	.	.	5.68	-3.93	0.04143	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4688	12.7638	0.57380	0.0:0.6083:0.0:0.3917	.	.	.	.	X	560;481;538;560;538;538;481;532;559;532;369	.	ENSP00000362664:Y538X	Y	+	3	2	GIGYF2	233369150	0.998000	0.40836	0.911000	0.35937	0.992000	0.81027	0.665000	0.25083	-1.007000	0.03408	-0.423000	0.05987	TAC		0.403	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		A	233660906	C	A	233660906	4	1	250	1	0	0	0	0	0	1	0	0	6378	489	17	3	1730	3	GIGYF2	2	233660906	Nonsense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	999934	233660906	9538467	12	13846											
ILKAP	80895	genome.wustl.edu	37	2	239090819	239090819	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr2:239090819C>G	ENST00000254654.3	-	9	898	c.723G>C	c.(721-723)ttG>ttC	p.L241F		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	241	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.L241F(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TATAACGACACAAGATTGCCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											196	175	182					2																	239090819		2203	4300	6503	238755558	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.723G>C	2.37:g.239090819C>G	ENSP00000254654:p.Leu241Phe		238755558	B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975123	0.53720	.	.	ENSG00000132323	ENST00000254654;ENST00000450411	T;T	0.39056	1.1;1.1	5.37	0.326	0.15908	Protein phosphatase 2C-like (5);	0.072044	0.56097	D	0.000036	T	0.61350	0.2340	M	0.91717	3.235	0.54753	D	0.999987	D	0.89917	1.0	D	0.81914	0.995	T	0.56432	-0.7980	10	0.72032	D	0.01	1.4726	1.2487	0.01978	0.253:0.4092:0.1232:0.2146	.	241	Q9H0C8	ILKAP_HUMAN	F	241;58	ENSP00000254654:L241F;ENSP00000406254:L58F	ENSP00000254654:L241F	L	-	3	2	ILKAP	238755558	0.999000	0.42202	0.988000	0.46212	0.832000	0.47134	0.656000	0.24948	-0.245000	0.09625	-0.793000	0.03317	TTG		0.418	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		G	239090819	C	G	239090819	3	3	250	1	0	0	0	0	1	0	0	0	7714	477	17	3	471	3	ILKAP	2	239090819	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	5429913	239090819	4108554	13	13847											
TMF1	7110	genome.wustl.edu	37	3	69082855	69082856	+	Splice_Site	DNP	TC	TC	GA			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	TC	TC	TC	GA	TC	TC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr3:69082855_69082856TC>GA	ENST00000398559.2	-	10	2461	c.2245_2245GA>TC	c.(2245-2247)GAag>TCaag	p.E749S	CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000543976.1_Splice_Site_p.E752S|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	749					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCCTGGAGTCTCTGAATCATGA	0.366																																																0			3																																								69165546	SO:0001630	splice_region_variant	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2245_2245delinsGA	3.37:g.69082855_69082856delinsGA			69165545	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	DNP	ENST00000398559.2	37	CCDS43105.1																																																																																				0.366	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	Missense_Mutation	GA	69082856	TC	GA	69082855	5	3	250	1	0	0	0	0	0	0	1	0	16228	1565	54	5	1068	5	TMF1	3	69082855	Splice_Site	DNP	TC	TCGA-24-1563-01A-01W-0553-09		69082855	128939575	14	13848											
GBE1	2632	genome.wustl.edu	37	3	81754734	81754734	+	Silent	SNP	G	G	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr3:81754734G>A	ENST00000429644.2	-	2	817	c.174C>T	c.(172-174)aaC>aaT	p.N58N	GBE1_ENST00000489715.1_Silent_p.N17N	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	58					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.N58N(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TTTCTCCAATGTTCTTCAAAA	0.343									Glycogen Storage Disease, type IV																																							1	Substitution - coding silent(1)	ovary(1)	3											41	37	38					3																	81754734		1824	4079	5903	81837424	SO:0001819	synonymous_variant	2632	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.174C>T	3.37:g.81754734G>A			81837424	B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	CCDS54612.1																																																																																				0.343	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			A	81754734	G	A	81754734	2	1	250	1	0	0	0	0	0	0	0	1	6270	1368	48	2		2	GBE1	3	81754734	Silent	SNP	G	TCGA-24-1563-01A-01W-0553-09	12671879	81754734	116267696	15	13849											
PHLDB2	90102	genome.wustl.edu	37	3	111604103	111604103	+	Silent	SNP	A	A	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr3:111604103A>T	ENST00000431670.2	+	2	1590	c.1179A>T	c.(1177-1179)gcA>gcT	p.A393A	PHLDB2_ENST00000412622.1_Silent_p.A393A|PHLDB2_ENST00000393925.3_Silent_p.A393A|PHLDB2_ENST00000481953.1_Silent_p.A393A|PHLDB2_ENST00000477695.1_Silent_p.A393A|PHLDB2_ENST00000393923.3_Silent_p.A420A|PHLDB2_ENST00000478922.1_Silent_p.A393A	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	393						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.A393A(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTGATGAGGCAGATTTGGAAA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	3											76	78	77					3																	111604103		2203	4300	6503	113086793	SO:0001819	synonymous_variant	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1179A>T	3.37:g.111604103A>T			113086793	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	CCDS46886.1																																																																																				0.517	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		T	111604103	A	T	111604103	2	4	250	1	0	0	0	0	0	0	0	1	11852	175	7	5		5	PHLDB2	3	111604103	Silent	SNP	A	TCGA-24-1563-01A-01W-0553-09	29849369	111604103	86418327	16	13850											
GFM1	85476	genome.wustl.edu	37	3	158369907	158369907	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr3:158369907A>G	ENST00000486715.1	+	6	1069	c.712A>G	c.(712-714)Att>Gtt	p.I238V	GFM1_ENST00000478576.1_Missense_Mutation_p.I238V|GFM1_ENST00000264263.5_Missense_Mutation_p.I257V	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.I238V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATATGGTGAGATTCCAGCTGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											70	73	72					3																	158369907		2203	4300	6503	159852601	SO:0001583	missense	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.712A>G	3.37:g.158369907A>G	ENSP00000419038:p.Ile238Val		159852601		Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.577680	0.28180	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.74421	-0.84;-0.84;-0.84	5.63	4.47	0.54385	Protein synthesis factor, GTP-binding (1);	0.108124	0.64402	N	0.000007	T	0.65719	0.2718	L	0.37630	1.12	0.80722	D	1	B;B;B	0.31655	0.286;0.069;0.334	B;B;B	0.34093	0.175;0.173;0.173	T	0.64537	-0.6384	10	0.56958	D	0.05	-20.16	11.1404	0.48400	0.9272:0.0:0.0728:0.0	.	257;238;238	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	V	238;238;257	ENSP00000419038:I238V;ENSP00000418755:I238V;ENSP00000264263:I257V	ENSP00000264263:I257V	I	+	1	0	GFM1	159852601	1.000000	0.71417	0.678000	0.29963	0.552000	0.35366	5.789000	0.69029	0.973000	0.38340	0.533000	0.62120	ATT		0.383	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		G	158369907	A	G	158369907	3	3	250	1	0	0	0	0	1	0	0	0	6341	333	12	4	734	4	GFM1	3	158369907	Missense_Mutation	SNP	A	TCGA-24-1563-01A-01W-0553-09	46765804	158369907	39652523	17	13851											
ETV5	2119	genome.wustl.edu	37	3	185823097	185823097	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr3:185823097T>G	ENST00000306376.5	-	5	475	c.229A>C	c.(229-231)Aac>Cac	p.N77H	ETV5_ENST00000537818.1_Missense_Mutation_p.N119H|DGKG_ENST00000447054.1_5'Flank|ETV5_ENST00000434744.1_Missense_Mutation_p.N77H	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	77					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N77H(1)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TACTTACGGTTATCAGACTGA	0.343			T	"TMPRSS2, SCL45A3"	Prostate																																		Dom	yes		3	3q28	2119	ets variant gene 5		E	1	Substitution - Missense(1)	ovary(1)	3											111	112	111					3																	185823097		2203	4300	6503	187305791	SO:0001583	missense	2119			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.229A>C	3.37:g.185823097T>G	ENSP00000306894:p.Asn77His		187305791	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579309	0.65878	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301;ENST00000422039	T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.6	5.6	0.85130	PEA3-type ETS-domain transcription factor, N-terminal (1);	3.669430	0.00698	N	0.000776	T	0.58921	0.2156	M	0.80183	2.485	0.35385	D	0.790236	D;D	0.65815	0.995;0.991	D;P	0.64410	0.925;0.852	T	0.23119	-1.0197	10	0.87932	D	0	.	13.6058	0.62046	0.0:0.0:0.0:1.0	.	77;119	P41161;B7Z7D7	ETV5_HUMAN;.	H	77;77;119;77;77;77;77	ENSP00000306894:N77H;ENSP00000413755:N77H;ENSP00000441737:N119H;ENSP00000389707:N77H;ENSP00000412171:N77H;ENSP00000405157:N77H;ENSP00000388737:N77H	ENSP00000306894:N77H	N	-	1	0	ETV5	187305791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.324000	0.65863	2.248000	0.74166	0.460000	0.39030	AAC		0.343	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		G	185823097	T	G	185823097	3	3	250	1	0	0	0	0	1	0	0	0	5282	1754	61	5	1339	5	ETV5	3	185823097	Missense_Mutation	SNP	T	TCGA-24-1563-01A-01W-0553-09	27453190	185823097	12199333	18	13852											
IL8	3576	genome.wustl.edu	37	4	74607289	74607289	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr4:74607289T>A	ENST00000307407.3	+	2	248	c.95T>A	c.(94-96)cTt>cAt	p.L32H	IL8_ENST00000401931.1_Missense_Mutation_p.L32H	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		32					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)	p.L32H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		GCTAAAGAACTTAGATGTCAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	4											95	91	92					4																	74607289		2203	4300	6503	74826153	SO:0001583	missense	3576																														ENST00000307407.3:c.95T>A	4.37:g.74607289T>A	ENSP00000306512:p.Leu32His		74826153	B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Missense_Mutation	SNP	ENST00000307407.3	37	CCDS34005.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476185	0.44044	.	.	ENSG00000169429	ENST00000307407;ENST00000401931	T;T	0.06068	3.48;3.35	4.96	4.96	0.65561	Chemokine interleukin-8-like domain (3);	0.181815	0.49916	D	0.000121	T	0.24084	0.0583	.	.	.	0.37634	D	0.921804	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05419	-1.0886	9	0.87932	D	0	-11.8906	12.8714	0.57966	0.0:0.0:0.0:1.0	.	32;32	C9J4T6;P10145	.;IL8_HUMAN	H	32	ENSP00000306512:L32H;ENSP00000385908:L32H	ENSP00000306512:L32H	L	+	2	0	IL8	74826153	1.000000	0.71417	0.892000	0.35008	0.007000	0.05969	4.670000	0.61583	1.994000	0.58287	0.477000	0.44152	CTT		0.433	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322211.1			A	74607289	T	A	74607289	3	1	250	1	0	0	0	0	1	0	0	0	7706	1609	56	5	101	5	IL8	4	74607289	Missense_Mutation	SNP	T	TCGA-24-1563-01A-01W-0553-09		74607289	116546987	19	13853											
GSTA1	2938	genome.wustl.edu	37	6	52657770	52657770	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr6:52657770C>G	ENST00000334575.5	-	6	585	c.430G>C	c.(430-432)Gga>Cga	p.G144R	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	144	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.G144R(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	TAGTCTTGTCCATGGCTCTTT	0.527																																																1	Substitution - Missense(1)	ovary(1)	6											167	150	156					6																	52657770		2203	4300	6503	52765729	SO:0001583	missense	2938				CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"Glutathione S-transferases / Soluble"	4626	protein-coding gene	gene with protein product		138359	"glutathione S-transferase A1"			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.430G>C	6.37:g.52657770C>G	ENSP00000335620:p.Gly144Arg		52765729	Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	c	7.418	0.636184	0.14386	.	.	ENSG00000243955	ENST00000334575	T	0.14640	2.49	2.43	2.43	0.29744	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.146450	0.44285	D	0.000475	T	0.11623	0.0283	M	0.79343	2.45	0.32660	N	0.518186	B	0.26258	0.145	B	0.36418	0.224	T	0.05305	-1.0893	10	0.56958	D	0.05	.	12.6198	0.56597	0.0:1.0:0.0:0.0	.	144	P08263	GSTA1_HUMAN	R	144	ENSP00000335620:G144R	ENSP00000335620:G144R	G	-	1	0	GSTA1	52765729	0.086000	0.21541	0.872000	0.34217	0.124000	0.20399	2.862000	0.48388	1.043000	0.40175	0.195000	0.17529	GGA		0.527	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			G	52657770	C	G	52657770	3	3	250	1	0	0	0	0	1	0	0	0	6830	603	21	3	246	3	GSTA1	6	52657770	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09		52657770	118457297	20	13854											
COL21A1	81578	genome.wustl.edu	37	6	56035888	56035888	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr6:56035888C>T	ENST00000244728.5	-	4	1076	c.679G>A	c.(679-681)Gat>Aat	p.D227N	COL21A1_ENST00000535941.1_Missense_Mutation_p.D227N|COL21A1_ENST00000370819.1_Missense_Mutation_p.D227N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	227					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D227N(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCCTTTCATCACGAGCTGCC	0.308																																																1	Substitution - Missense(1)	ovary(1)	6											91	84	86					6																	56035888		1832	4081	5913	56143847	SO:0001583	missense	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.679G>A	6.37:g.56035888C>T	ENSP00000244728:p.Asp227Asn		56143847	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536901	0.65085	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.89875	-2.58;-2.53;-2.58	4.17	4.17	0.49024	.	0.000000	0.52532	U	0.000068	D	0.92140	0.7508	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.989	D	0.91487	0.5209	10	0.39692	T	0.17	.	16.8146	0.85730	0.0:1.0:0.0:0.0	.	227;227	Q96P44-3;Q96P44	.;COLA1_HUMAN	N	227	ENSP00000244728:D227N;ENSP00000359855:D227N;ENSP00000444384:D227N	ENSP00000244728:D227N	D	-	1	0	COL21A1	56143847	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	7.235000	0.78143	2.024000	0.59613	0.585000	0.79938	GAT		0.308	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			T	56035888	C	T	56035888	3	4	250	1	0	0	0	0	1	0	0	0	3680	826	29	2	2302	2	COL21A1	6	56035888	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	3378118	56035888	115079179	21	13855											
DST	667	genome.wustl.edu	37	6	56506838	56506838	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr6:56506838A>G	ENST00000361203.3	-	13	1308	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T	DST_ENST00000446842.2_Missense_Mutation_p.I108T|DST_ENST00000244364.6_Missense_Mutation_p.I108T|DST_ENST00000312431.6_Missense_Mutation_p.I434T|DST_ENST00000370765.6_Missense_Mutation_p.I108T|DST_ENST00000421834.2_Missense_Mutation_p.I434T|DST_ENST00000370769.4_Missense_Mutation_p.I434T|DST_ENST00000370788.2_Missense_Mutation_p.I434T|DST_ENST00000370754.5_Missense_Mutation_p.I612T|DST_ENST00000518935.1_Missense_Mutation_p.I108T			Q03001	DYST_HUMAN	dystonin	434					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.I612T(1)|p.I108T(1)|p.I434T(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATTCAAGTATATACCCAGC	0.348																																																3	Substitution - Missense(3)	ovary(3)	6											113	107	109					6																	56506838		2203	4299	6502	56614797	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1301T>C	6.37:g.56506838A>G	ENSP00000354508:p.Ile434Thr		56614797	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	21.7	4.183012	0.78677	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.3	5.3	0.74995	.	0.124307	0.35349	N	0.003264	D	0.93559	0.7944	L	0.38175	1.15	0.28672	N	0.905586	B;B;D;B;P;P;D;D;B;B	0.69078	0.361;0.037;0.993;0.089;0.949;0.611;0.995;0.997;0.037;0.372	B;B;D;B;P;B;P;D;B;B	0.72338	0.068;0.016;0.977;0.016;0.496;0.205;0.885;0.945;0.016;0.137	D	0.95023	0.8162	9	0.87932	D	0	.	15.4071	0.74887	1.0:0.0:0.0:0.0	.	463;434;434;612;550;108;108;108;434;108	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	T	108;612;434;434;108;434;434;434;108;474;108;108;612	ENSP00000244364:I108T;ENSP00000359790:I612T;ENSP00000359805:I434T;ENSP00000400883:I434T;ENSP00000393645:I108T;ENSP00000307959:I434T;ENSP00000359824:I434T;ENSP00000354508:I434T;ENSP00000404924:I108T;ENSP00000431030:I474T;ENSP00000359801:I108T;ENSP00000431003:I108T;ENSP00000393082:I612T	ENSP00000244364:I108T	I	-	2	0	DST	56614797	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	8.761000	0.91691	2.222000	0.72286	0.477000	0.44152	ATA		0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56506838	A	G	56506838	3	3	250	1	0	0	0	0	1	0	0	0	4783	449	16	4	20160	4	DST	6	56506838	Missense_Mutation	SNP	A	TCGA-24-1563-01A-01W-0553-09	470950	56506838	114608229	22	13856											
COL12A1	1303	genome.wustl.edu	37	6	75892996	75892996	+	Nonsense_Mutation	SNP	G	G	C			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr6:75892996G>C	ENST00000322507.8	-	10	1970	c.1661C>G	c.(1660-1662)tCa>tGa	p.S554*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.S554*|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.S554*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	554	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.S554*(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAAAGCATCTGATGATTTCCC	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	6											177	166	170					6																	75892996		1909	4133	6042	75949716	SO:0001587	stop_gained	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1661C>G	6.37:g.75892996G>C	ENSP00000325146:p.Ser554*		75949716	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	37	6.448243	0.97577	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	.	.	.	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	.	.	.	X	554	.	ENSP00000325146:S554X	S	-	2	0	COL12A1	75949716	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.809000	0.86057	2.777000	0.95525	0.655000	0.94253	TCA		0.408	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		C	75892996	G	C	75892996	4	2	250	1	0	0	0	0	0	1	0	0	3669	1294	45	3	7758	3	COL12A1	6	75892996	Nonsense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09	19386158	75892996	95222071	23	13857											
KLHL32	114792	genome.wustl.edu	37	6	97587058	97587058	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr6:97587058C>T	ENST00000369261.4	+	11	2126	c.1763C>T	c.(1762-1764)gCt>gTt	p.A588V	KLHL32_ENST00000544166.1_Missense_Mutation_p.A144V|KLHL32_ENST00000536676.1_Missense_Mutation_p.A552V|KLHL32_ENST00000539200.1_Missense_Mutation_p.A519V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	588								p.A588V(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CTCCCTTTTGCTTCCAATGGA	0.433																																																1	Substitution - Missense(1)	ovary(1)	6											218	182	194					6																	97587058		2203	4300	6503	97693779	SO:0001583	missense	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1763C>T	6.37:g.97587058C>T	ENSP00000358265:p.Ala588Val		97693779	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299724	0.95574	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.84	5.84	0.93424	Kelch-type beta propeller (1);	0.126462	0.52532	D	0.000069	T	0.80308	0.4599	M	0.77616	2.38	0.80722	D	1	D;D;P;D	0.63880	0.967;0.993;0.558;0.993	P;D;B;D	0.68192	0.637;0.956;0.211;0.935	T	0.80331	-0.1427	10	0.59425	D	0.04	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	519;552;588;144	B7Z4E2;B7Z346;Q96NJ5;Q8IXH0	.;.;KLH32_HUMAN;.	V	588;552;144;519	ENSP00000358265:A588V;ENSP00000440382:A552V;ENSP00000445453:A144V;ENSP00000441527:A519V	ENSP00000358265:A588V	A	+	2	0	KLHL32	97693779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.429000	0.80309	2.765000	0.95021	0.655000	0.94253	GCT		0.433	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		T	97587058	C	T	97587058	3	4	250	1	0	0	0	0	1	0	0	0	8386	797	28	2	1801	2	KLHL32	6	97587058	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	21694062	97587058	73528009	24	13858											
DDC	1644	genome.wustl.edu	37	7	50611607	50611607	+	Missense_Mutation	SNP	G	G	T	rs375406710		TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr7:50611607G>T	ENST00000444124.2	-	2	377	c.177C>A	c.(175-177)gaC>gaA	p.D59E	DDC_ENST00000357936.5_Missense_Mutation_p.D59E|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Missense_Mutation_p.D59E|DDC_ENST00000431062.1_Missense_Mutation_p.D59E|DDC_ENST00000380984.4_Missense_Mutation_p.D59E	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	59	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.D59E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TCTTCTCAACGTCGTTGATGA	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											127	119	122					7																	50611607		2203	4300	6503	50579101	SO:0001583	missense	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.177C>A	7.37:g.50611607G>T	ENSP00000403644:p.Asp59Glu		50579101	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.42|13.42	2.231920|2.231920	0.39399|0.39399	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984|ENST00000430300	T;T;T;T;T|.	0.54071|.	0.59;1.19;0.59;0.59;0.59|.	5.92|5.92	-2.97|-2.97	0.05530|0.05530	Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74801|0.74801	0.3764|0.3764	M|M	0.84683|0.84683	2.71|2.71	0.36975|0.36975	D|D	0.894027|0.894027	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.79381|0.79381	-0.1827|-0.1827	10|5	0.87932|.	D|.	0|.	-16.2905|-16.2905	15.4951|15.4951	0.75643|0.75643	0.6538:0.0:0.3462:0.0|0.6538:0.0:0.3462:0.0	.|.	59;59|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	E|K	59|25	ENSP00000350616:D59E;ENSP00000399184:D59E;ENSP00000395069:D59E;ENSP00000403644:D59E;ENSP00000370371:D59E|.	ENSP00000350616:D59E|.	D|T	-|-	3|2	2|0	DDC|DDC	50579101|50579101	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.052000|0.052000	0.14988|0.14988	-0.704000|-0.704000	0.05058|0.05058	-0.668000|-0.668000	0.05296|0.05296	-0.713000|-0.713000	0.03633|0.03633	GAC|ACG		0.557	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			T	50611607	G	T	50611607	3	4	250	1	0	0	0	0	1	0	0	0	4325	1136	40	3	1317	3	DDC	7	50611607	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09		50611607	108527056	25	13859											
EPHX2	2053	genome.wustl.edu	37	8	27369405	27369405	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr8:27369405G>C	ENST00000521400.1	+	6	1143	c.713G>C	c.(712-714)aGc>aCc	p.S238T	EPHX2_ENST00000518379.1_Missense_Mutation_p.S238T|EPHX2_ENST00000380476.3_Missense_Mutation_p.S185T|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000521780.1_Missense_Mutation_p.S172T	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	238	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.S238T(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		AGTGACATGAGCCATGGGTAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	8											225	196	206					8																	27369405		2203	4300	6503	27425322	SO:0001583	missense	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.713G>C	8.37:g.27369405G>C	ENSP00000430269:p.Ser238Thr		27425322	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	CCDS6060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.65|10.65	1.411080|1.411080	0.25465|0.25465	.|.	.|.	ENSG00000120915|ENSG00000120915	ENST00000521684|ENST00000521400;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	.|T;T;T;T	.|0.05513	.|3.83;3.83;3.83;3.43	4.76|4.76	1.7|1.7	0.24286|0.24286	.|.	.|0.554181	.|0.21454	.|N	.|0.074298	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.05158|0.05158	-0.105|-0.105	0.40317|0.40317	D|D	0.978785|0.978785	.|B;B;B	.|0.11235	.|0.004;0.002;0.004	.|B;B;B	.|0.11329	.|0.006;0.002;0.003	T|T	0.46665|0.46665	-0.9175|-0.9175	5|10	.|0.16420	.|T	.|0.52	-0.0011|-0.0011	12.095|12.095	0.53750|0.53750	0.0:0.5637:0.4363:0.0|0.0:0.5637:0.4363:0.0	.|.	.|238;238;238	.|E5RFU2;E7ETW9;P34913	.|.;.;HYES_HUMAN	P|T	197|238;172;185;242;238	.|ENSP00000430269:S238T;ENSP00000430302:S172T;ENSP00000369843:S185T;ENSP00000427956:S238T	.|ENSP00000369843:S185T	A|S	+|+	1|2	0|0	EPHX2|EPHX2	27425322|27425322	1.000000|1.000000	0.71417|0.71417	0.931000|0.931000	0.37212|0.37212	0.259000|0.259000	0.26198|0.26198	0.636000|0.636000	0.24644|0.24644	0.571000|0.571000	0.29365|0.29365	0.561000|0.561000	0.74099|0.74099	GCC|AGC		0.532	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			C	27369405	G	C	27369405	3	2	250	1	0	0	0	0	1	0	0	0	5180	971	34	3	735	3	EPHX2	8	27369405	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09		27369405	118994617	26	13860											
TRPA1	8989	genome.wustl.edu	37	8	72981273	72981273	+	Silent	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr8:72981273A>G	ENST00000262209.4	-	3	636	c.429T>C	c.(427-429)aaT>aaC	p.N143N		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	143					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.N143N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCACCTCATTATTCATGCCCT	0.527																																																1	Substitution - coding silent(1)	ovary(1)	8											219	230	227					8																	72981273		2203	4300	6503	73143827	SO:0001819	synonymous_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.429T>C	8.37:g.72981273A>G			73143827	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.527	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		G	72981273	A	G	72981273	2	3	250	1	0	0	0	0	0	0	0	1	16577	446	16	4		4	TRPA1	8	72981273	Silent	SNP	A	TCGA-24-1563-01A-01W-0553-09	45611868	72981273	73382749	27	13861											
CNGB3	54714	genome.wustl.edu	37	8	87660106	87660106	+	Missense_Mutation	SNP	C	C	T	rs144637286	byFrequency	TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr8:87660106C>T	ENST00000320005.5	-	8	960	c.913G>A	c.(913-915)Gca>Aca	p.A305T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	305					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A305T(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATTATTGATGCGACATCCAAC	0.333																																																1	Substitution - Missense(1)	ovary(1)	8						C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	115	108	110		913	3.1	0.3	8	dbSNP_134	110	10,8588	7.7+/-29.5	0,10,4289	yes	missense	CNGB3	NM_019098.4	58	0,12,6490	TT,TC,CC		0.1163,0.0454,0.0923	possibly-damaging	305/810	87660106	12,12992	2203	4299	6502	87729222	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.913G>A	8.37:g.87660106C>T	ENSP00000316605:p.Ala305Thr		87729222	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408837	0.42715	4.54E-4	0.001163	ENSG00000170289	ENST00000320005	T	0.52983	0.64	5.93	3.07	0.35406	.	0.538057	0.19050	N	0.124067	T	0.48572	0.1507	L	0.58101	1.795	0.09310	N	1	P;P	0.51147	0.928;0.942	P;P	0.51777	0.551;0.679	T	0.42832	-0.9428	10	0.62326	D	0.03	.	3.4677	0.07555	0.2142:0.4616:0.2088:0.1154	.	305;305	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	T	305	ENSP00000316605:A305T	ENSP00000316605:A305T	A	-	1	0	CNGB3	87729222	0.000000	0.05858	0.258000	0.24420	0.360000	0.29518	-0.308000	0.08156	0.792000	0.33850	0.591000	0.81541	GCA		0.333	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		T	87660106	C	T	87660106	3	4	250	1	0	0	0	0	1	0	0	0	3601	768	27	1	1560	1	CNGB3	8	87660106	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	14678833	87660106	58703916	28	13862											
HAS2	3037	genome.wustl.edu	37	8	122641138	122641138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr8:122641138C>T	ENST00000303924.4	-	2	980	c.443G>A	c.(442-444)tGg>tAg	p.W148*		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	148					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.W148*(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTGTTCTTCCAGATATAAGT	0.433																																																1	Substitution - Nonsense(1)	ovary(1)	8											283	253	263					8																	122641138		2203	4300	6503	122710319	SO:0001587	stop_gained	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.443G>A	8.37:g.122641138C>T	ENSP00000306991:p.Trp148*		122710319	Q32MM3	Nonsense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	42	9.380782	0.99155	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7255	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	148	.	ENSP00000306991:W148X	W	-	2	0	HAS2	122710319	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.772000	0.85439	2.941000	0.99782	0.655000	0.94253	TGG		0.433	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		T	122641138	C	T	122641138	4	4	250	1	0	0	0	0	0	1	0	0	6962	595	21	2	1227	2	HAS2	8	122641138	Nonsense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	34981032	122641138	23722884	29	13863											
TBC1D2	55357	genome.wustl.edu	37	9	100965682	100965682	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr9:100965682G>T	ENST00000375064.1	-	10	2197	c.2159C>A	c.(2158-2160)gCc>gAc	p.A720D	TBC1D2_ENST00000375063.1_Missense_Mutation_p.A260D|TBC1D2_ENST00000342112.5_Missense_Mutation_p.A502D|TBC1D2_ENST00000375066.5_Missense_Mutation_p.A720D	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	720	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.A720D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGGGCAATGGCCGCCAGCCT	0.617																																																1	Substitution - Missense(1)	ovary(1)	9											96	88	91					9																	100965682		2203	4300	6503	100005503	SO:0001583	missense	55357			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2159C>A	9.37:g.100965682G>T	ENSP00000364205:p.Ala720Asp		100005503	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.363406	0.82353	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.30182	2.33;2.33;2.33;1.54	5.35	5.35	0.76521	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85413	0.1138	10	0.87932	D	0	.	17.8634	0.88789	0.0:0.0:1.0:0.0	.	720;720	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	D	720;720;502;260	ENSP00000364205:A720D;ENSP00000364207:A720D;ENSP00000341567:A502D;ENSP00000364203:A260D	ENSP00000341567:A502D	A	-	2	0	TBC1D2	100005503	1.000000	0.71417	0.995000	0.50966	0.503000	0.33858	9.869000	0.99810	2.503000	0.84419	0.655000	0.94253	GCC		0.617	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		T	100965682	G	T	100965682	3	4	250	1	0	0	0	0	1	0	0	0	15608	1203	42	3	610	3	TBC1D2	9	100965682	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09		100965682	40247749	30	13864											
PITRM1	10531	genome.wustl.edu	37	10	3208518	3208518	+	Silent	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr10:3208518C>T	ENST00000224949.4	-	4	355	c.321G>A	c.(319-321)gaG>gaA	p.E107E	PITRM1_ENST00000451104.2_Silent_p.E75E|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Silent_p.E107E|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	107					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E107E(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGACGGTATGCTCAAGAATGT	0.493																																																1	Substitution - coding silent(1)	ovary(1)	10											146	146	146					10																	3208518		2018	4172	6190	3198518	SO:0001819	synonymous_variant	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.321G>A	10.37:g.3208518C>T			3198518	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	CCDS59208.1																																																																																				0.493	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			T	3208518	C	T	3208518	2	4	250	1	0	0	0	0	0	0	0	1	11953	796	28	2		2	PITRM1	10	3208518	Silent	SNP	C	TCGA-24-1563-01A-01W-0553-09		3208518	132326229	31	13865											
ANKRD30A	91074	genome.wustl.edu	37	10	37506757	37506757	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr10:37506757T>G	ENST00000602533.1	+	33	3149	c.3050T>G	c.(3049-3051)cTc>cGc	p.L1017R	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L1017R|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.L1136R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1073					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1017R(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAACAGGCTCTCAGAATACAA	0.289																																																1	Substitution - Missense(1)	ovary(1)	10											59	61	61					10																	37506757		1812	4057	5869	37546763	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3050T>G	10.37:g.37506757T>G	ENSP00000473551:p.Leu1017Arg		37546763	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	t	10.88	1.475336	0.26511	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.23348	1.91;1.91	2.78	0.21	0.15231	.	.	.	.	.	T	0.31358	0.0794	L	0.58810	1.83	0.09310	N	1	P	0.52842	0.956	P	0.53360	0.724	T	0.17167	-1.0378	9	0.87932	D	0	.	3.3016	0.06985	0.2019:0.1268:0.0:0.6713	.	1073	Q9BXX3	AN30A_HUMAN	R	1017;1136	ENSP00000354432:L1017R;ENSP00000363792:L1136R	ENSP00000354432:L1017R	L	+	2	0	ANKRD30A	37546763	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.903000	0.28475	-0.179000	0.10654	-0.806000	0.03193	CTC		0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37506757	T	G	37506757	3	3	250	1	0	0	0	0	1	0	0	0	658	1551	54	5	3180	5	ANKRD30A	10	37506757	Missense_Mutation	SNP	T	TCGA-24-1563-01A-01W-0553-09	34298239	37506757	98027990	32	13866											
SLC16A9	220963	genome.wustl.edu	37	10	61413887	61413887	+	Silent	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr10:61413887A>G	ENST00000395348.3	-	5	1533	c.897T>C	c.(895-897)gcT>gcC	p.A299A	SLC16A9_ENST00000395347.1_Silent_p.A299A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	299					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.A299A(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTTTAAAAAGAGCCACAGTTT	0.363																																																1	Substitution - coding silent(1)	ovary(1)	10											75	77	77					10																	61413887		2203	4300	6503	61083893	SO:0001819	synonymous_variant	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.897T>C	10.37:g.61413887A>G			61083893	Q6ZMI2|Q9UFH8	Silent	SNP	ENST00000395348.3	37	CCDS7256.1																																																																																				0.363	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		G	61413887	A	G	61413887	2	3	250	1	0	0	0	0	0	0	0	1	14418	291	11	4		4	SLC16A9	10	61413887	Silent	SNP	A	TCGA-24-1563-01A-01W-0553-09	23907130	61413887	74120860	33	13867											
HKDC1	80201	genome.wustl.edu	37	10	71010331	71010331	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr10:71010331T>G	ENST00000354624.5	+	12	1892	c.1759T>G	c.(1759-1761)Tac>Gac	p.Y587D	HKDC1_ENST00000395086.2_Missense_Mutation_p.Y587D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	587	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.Y587D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCCTGGACTACATGGGCCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	10											121	124	123					10																	71010331		2203	4300	6503	70680337	SO:0001583	missense	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1759T>G	10.37:g.71010331T>G	ENSP00000346643:p.Tyr587Asp		70680337	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.257031	0.39896	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98792	-5.14;-5.14	4.98	4.98	0.66077	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	L	0.42487	1.325	0.53688	D	0.999975	D	0.60160	0.987	D	0.69824	0.966	D	0.97749	1.0213	10	0.13108	T	0.6	-19.9861	14.8099	0.69985	0.0:0.0:0.0:1.0	.	587	Q2TB90	HKDC1_HUMAN	D	587	ENSP00000346643:Y587D;ENSP00000378521:Y587D	ENSP00000346643:Y587D	Y	+	1	0	HKDC1	70680337	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.988000	0.70579	2.090000	0.63153	0.459000	0.35465	TAC		0.557	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		G	71010331	T	G	71010331	3	3	250	1	0	0	0	0	1	0	0	0	7193	1522	53	5	1805	5	HKDC1	10	71010331	Missense_Mutation	SNP	T	TCGA-24-1563-01A-01W-0553-09	9596444	71010331	64524416	34	13868											
NRAP	4892	genome.wustl.edu	37	10	115400046	115400046	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr10:115400046G>T	ENST00000359988.3	-	14	1612	c.1368C>A	c.(1366-1368)aaC>aaA	p.N456K	NRAP_ENST00000369358.4_Missense_Mutation_p.N456K|NRAP_ENST00000369360.3_Missense_Mutation_p.N421K|NRAP_ENST00000360478.3_Missense_Mutation_p.N421K	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.N456K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGCTGGGTAGTTGTAGTCGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											210	189	196					10																	115400046		2203	4300	6503	115390036	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1368C>A	10.37:g.115400046G>T	ENSP00000353078:p.Asn456Lys		115390036		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065258	0.55432	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.17054	2.5;2.49;2.39;2.3	6.07	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	M	0.70595	2.14	0.39168	D	0.96253	D;D;D	0.65815	0.995;0.99;0.991	D;D;P	0.67103	0.949;0.942;0.877	T	0.09773	-1.0659	10	0.30854	T	0.27	.	8.0306	0.30463	0.3539:0.0:0.6461:0.0	.	456;421;456	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	K	456;421;456;421;185;185	ENSP00000358365:N456K;ENSP00000358367:N421K;ENSP00000353078:N456K;ENSP00000353666:N421K	ENSP00000353078:N456K	N	-	3	2	NRAP	115390036	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.594000	0.46189	0.903000	0.36546	0.655000	0.94253	AAC		0.393	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		T	115400046	G	T	115400046	3	4	250	1	0	0	0	0	1	0	0	0	10638	1020	36	3	3940	3	NRAP	10	115400046	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09	44389715	115400046	20134701	35	13869											
USH1C	10083	genome.wustl.edu	37	11	17548563	17548563	+	Splice_Site	SNP	C	C	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr11:17548563C>A	ENST00000318024.4	-	6	629	c.521G>T	c.(520-522)aGc>aTc	p.S174I	USH1C_ENST00000005226.7_Splice_Site_p.S174I|USH1C_ENST00000527720.1_Splice_Site_p.S143I|USH1C_ENST00000527020.1_Splice_Site_p.S174I	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	174					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.S174I(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGCCTCTCACCTTTTCACGGG	0.657																																																1	Substitution - Missense(1)	ovary(1)	11											29	23	25					11																	17548563		2180	4270	6450	17505139	SO:0001630	splice_region_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.521+1G>T	11.37:g.17548563C>A			17505139	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843712	0.32606	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.31	4.28	0.50868	PDZ/DHR/GLGF (1);	0.179966	0.64402	D	0.000013	T	0.15349	0.0370	L	0.29908	0.895	0.53005	D	0.999967	P;P;P	0.44946	0.846;0.761;0.801	P;B;B	0.47102	0.537;0.336;0.396	T	0.01352	-1.1377	9	.	.	.	.	8.5461	0.33421	0.0:0.8582:0.0:0.1418	.	174;174;174	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	I	174;143;174;174;185	ENSP00000317018:S174I;ENSP00000432944:S143I;ENSP00000436934:S174I;ENSP00000005226:S174I;ENSP00000437128:S185I	.	S	-	2	0	USH1C	17505139	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	1.790000	0.38734	2.471000	0.83476	0.557000	0.71058	AGC		0.657	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	Missense_Mutation	A	17548563	C	A	17548563	5	1	250	1	0	0	0	0	0	0	1	0	17034	695	24	3	2344	3	USH1C	11	17548563	Splice_Site	SNP	C	TCGA-24-1563-01A-01W-0553-09		17548563	117457953	36	13870											
FAM111A	63901	genome.wustl.edu	37	11	58920238	58920238	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr11:58920238C>G	ENST00000528737.1	+	5	3915	c.1097C>G	c.(1096-1098)aCt>aGt	p.T366S	FAM111A_ENST00000361723.3_Missense_Mutation_p.T366S|FAM111A_ENST00000420244.1_Missense_Mutation_p.T366S|FAM111A_ENST00000533703.1_Missense_Mutation_p.T366S|FAM111A_ENST00000531147.1_Missense_Mutation_p.T366S			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	366	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.T366S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GACAGTGCAACTACGGGTTAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	11											108	108	108					11																	58920238		2201	4295	6496	58676814	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1097C>G	11.37:g.58920238C>G	ENSP00000434435:p.Thr366Ser		58676814	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238061	0.22711	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.73	-1.06	0.10002	Peptidase cysteine/serine, trypsin-like (1);	1.020260	0.07794	N	0.955349	T	0.26991	0.0661	L	0.34521	1.04	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.25363	-1.0134	10	0.46703	T	0.11	-18.0317	2.2852	0.04124	0.4385:0.1331:0.0704:0.3579	.	366	Q96PZ2	F111A_HUMAN	S	366	ENSP00000434435:T366S;ENSP00000406683:T366S;ENSP00000355264:T366S;ENSP00000433154:T366S;ENSP00000431631:T366S	ENSP00000355264:T366S	T	+	2	0	FAM111A	58676814	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.611000	0.24268	-0.356000	0.08187	-1.608000	0.00805	ACT		0.398	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		G	58920238	C	G	58920238	3	3	250	1	0	0	0	0	1	0	0	0	5399	565	20	3	1103	3	FAM111A	11	58920238	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	41371675	58920238	76086278	37	13871											
C11orf66	220004	genome.wustl.edu	37	11	61254627	61254627	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr11:61254627G>C	ENST00000338608.2	+	11	1083	c.958G>C	c.(958-960)Ggg>Cgg	p.G320R	PPP1R32_ENST00000432063.2_Missense_Mutation_p.G300R|PPP1R32_ENST00000366212.4_5'Flank|PPP1R32_ENST00000538185.1_5'Flank	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	320							phosphatase binding (GO:0019902)	p.G320R(1)									GGAGCCCACAGGGTTCAGCCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	11											178	176	177					11																	61254627		2202	4299	6501	61011203	SO:0001583	missense	220004			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28869	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 66"	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.958G>C	11.37:g.61254627G>C	ENSP00000344140:p.Gly320Arg		61011203	Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348980	0.61183	.	.	ENSG00000162148	ENST00000432063;ENST00000338608;ENST00000542951;ENST00000535545	T;T;T;T	0.67523	-0.27;0.18;0.57;0.5	4.69	4.69	0.59074	.	0.177207	0.37261	N	0.002169	T	0.81851	0.4910	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.77004	0.989;0.939	D	0.84824	0.0798	10	0.87932	D	0	-9.5621	14.9191	0.70822	0.0:0.0:1.0:0.0	.	300;320	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	R	300;320;71;87	ENSP00000391560:G300R;ENSP00000344140:G320R;ENSP00000441053:G71R;ENSP00000437511:G87R	ENSP00000344140:G320R	G	+	1	0	C11orf66	61011203	1.000000	0.71417	0.997000	0.53966	0.591000	0.36615	4.783000	0.62403	2.311000	0.77944	0.609000	0.83330	GGG		0.562	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		C	61254627	G	C	61254627	3	2	250	1	0	0	0	0	1	0	0	0	1656	1000	35	3	996	3	C11orf66	11	61254627	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09	2334389	61254627	73751889	38	13872											
RNF26	79102	genome.wustl.edu	37	11	119206996	119206996	+	Silent	SNP	G	G	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr11:119206996G>A	ENST00000311413.4	+	1	1760	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	C1QTNF5_ENST00000525657.1_5'Flank|RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	388						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.K388K(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		ACCAGAGCAAGACAGTGTTGC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	11											101	86	91					11																	119206996		2199	4295	6494	118712206	SO:0001819	synonymous_variant	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1164G>A	11.37:g.119206996G>A			118712206	Q542Y8	Silent	SNP	ENST00000311413.4	37	CCDS8419.1																																																																																				0.602	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		A	119206996	G	A	119206996	2	1	250	1	0	0	0	0	0	0	0	1	13489	933	33	2		2	RNF26	11	119206996	Silent	SNP	G	TCGA-24-1563-01A-01W-0553-09	57952369	119206996	15799520	39	13873											
ADAMTS20	80070	genome.wustl.edu	37	12	43826111	43826111	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr12:43826111C>T	ENST00000389420.3	-	21	3091	c.3092G>A	c.(3091-3093)aGc>aAc	p.S1031N	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S1031N|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.S185N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1031	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1031Y(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGTACCTCGCTCCATTCACT	0.378																																																1	Substitution - Missense(1)	ovary(1)	12											100	92	95					12																	43826111		2203	4300	6503	42112378	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3092G>A	12.37:g.43826111C>T	ENSP00000374071:p.Ser1031Asn		42112378	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178243	0.78564	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000010	D	0.82999	0.5159	M	0.88377	2.95	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86194	0.1614	10	0.72032	D	0.01	.	18.9963	0.92813	0.0:1.0:0.0:0.0	.	1031;185	P59510;E9PBD5	ATS20_HUMAN;.	N	1031;197;185;1031;1031	ENSP00000374071:S1031N;ENSP00000447427:S197N;ENSP00000378911:S185N;ENSP00000448341:S1031N	ENSP00000374068:S1031N	S	-	2	0	ADAMTS20	42112378	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.497000	0.53295	2.637000	0.89404	0.563000	0.77884	AGC		0.378	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		T	43826111	C	T	43826111	3	4	250	1	0	0	0	0	1	0	0	0	266	797	28	2	2715	2	ADAMTS20	12	43826111	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09		43826111	90025784	40	13874											
CUX2	23316	genome.wustl.edu	37	12	111746135	111746135	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	G	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr12:111746135C>G	ENST00000261726.6	+	13	1310	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	386					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.Q386*(1)|p.Q386E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGCCTCCCCCAGGTAAGTGT	0.652																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	upper_aerodigestive_tract(1)|ovary(1)	12											60	64	63					12																	111746135		2005	4188	6193	110230518	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1156C>G	12.37:g.111746135C>G	ENSP00000261726:p.Gln386Glu		110230518	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488804	0.64074	.	.	ENSG00000111249	ENST00000261726	T	0.51817	0.69	5.04	5.04	0.67666	.	0.127579	0.56097	D	0.000031	T	0.62060	0.2397	L	0.52126	1.63	0.58432	D	0.999999	D	0.58268	0.982	D	0.67548	0.952	T	0.57087	-0.7871	10	0.27785	T	0.31	-28.8216	17.9881	0.89160	0.0:1.0:0.0:0.0	.	386	O14529	CUX2_HUMAN	E	386	ENSP00000261726:Q386E	ENSP00000261726:Q386E	Q	+	1	0	CUX2	110230518	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	6.992000	0.76238	2.344000	0.79699	0.313000	0.20887	CAG		0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		G	111746135	C	G	111746135	3	3	250	1	0	0	0	0	1	0	0	0	4065	595	21	3	1206	3	CUX2	12	111746135	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	67920024	111746135	22105760	41	13875											
STARD13	90627	genome.wustl.edu	37	13	33739488	33739488	+	Silent	SNP	T	T	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr13:33739488T>A	ENST00000336934.5	-	3	425	c.309A>T	c.(307-309)gtA>gtT	p.V103V	STARD13_ENST00000487412.1_5'UTR|STARD13-IT1_ENST00000456087.1_RNA|STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000255486.4_Silent_p.V95V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	103	SAM.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.V103V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AAAGAGGTTCTACAAGGTCCT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	13											120	116	117					13																	33739488		2203	4300	6503	32637488	SO:0001819	synonymous_variant	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.309A>T	13.37:g.33739488T>A			32637488	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	CCDS9348.1																																																																																				0.398	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		A	33739488	T	A	33739488	2	1	250	1	0	0	0	0	0	0	0	1	15258	1509	53	5		5	STARD13	13	33739488	Silent	SNP	T	TCGA-24-1563-01A-01W-0553-09		33739488	81430390	42	13876											
COL4A1	1282	genome.wustl.edu	37	13	110827611	110827611	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr13:110827611T>A	ENST00000375820.4	-	37	3273	c.3152A>T	c.(3151-3153)cAg>cTg	p.Q1051L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1051	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.Q1051L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGGCCTGCCTGCCCTTTCTC	0.572																																																1	Substitution - Missense(1)	ovary(1)	13											155	117	130					13																	110827611		2203	4300	6503	109625612	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3152A>T	13.37:g.110827611T>A	ENSP00000364979:p.Gln1051Leu		109625612	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	9.022	0.985026	0.18889	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93659	-3.26	5.39	2.71	0.32032	.	0.775970	0.12138	N	0.496131	T	0.80665	0.4666	N	0.03000	-0.44	0.80722	D	1	B	0.20988	0.05	B	0.28385	0.089	T	0.70088	-0.4968	10	0.06891	T	0.86	.	7.1405	0.25554	0.2351:0.0:0.136:0.6289	.	1051	P02462	CO4A1_HUMAN	L	694;1051;700	ENSP00000364979:Q1051L	ENSP00000364973:Q694L	Q	-	2	0	COL4A1	109625612	0.132000	0.22450	0.990000	0.47175	0.346000	0.29079	1.608000	0.36847	0.947000	0.37659	0.528000	0.53228	CAG		0.572	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			A	110827611	T	A	110827611	3	1	250	1	0	0	0	0	1	0	0	0	3689	1580	55	5	1921	5	COL4A1	13	110827611	Missense_Mutation	SNP	T	TCGA-24-1563-01A-01W-0553-09	77088123	110827611	4342267	43	13877											
RPL10L	140801	genome.wustl.edu	37	14	47120738	47120738	+	Missense_Mutation	SNP	C	C	T	rs200453552		TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr14:47120738C>T	ENST00000298283.3	-	1	290	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	68					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.A68T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CAAATACGGGCGGCCTCCAGG	0.512													C|||	1	0.000199681	0	0	5008	,	,		17938	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	14											65	68	67					14																	47120738		2203	4300	6503	46190488	SO:0001583	missense	140801			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.202G>A	14.37:g.47120738C>T	ENSP00000298283:p.Ala68Thr		46190488	Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	CCDS32071.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.9	4.781757	0.90282	.	.	ENSG00000165496	ENST00000298283	T	0.75821	-0.97	4.17	4.17	0.49024	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.87977	0.6314	H	0.97516	4.02	0.80722	D	1	P	0.46277	0.875	P	0.52109	0.69	D	0.91913	0.5541	10	0.87932	D	0	-28.8228	14.7976	0.69889	0.0:1.0:0.0:0.0	.	68	Q96L21	RL10L_HUMAN	T	68	ENSP00000298283:A68T	ENSP00000298283:A68T	A	-	1	0	RPL10L	46190488	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.026000	0.76455	2.608000	0.88229	0.655000	0.94253	GCC		0.512	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			T	47120738	C	T	47120738	3	4	250	1	0	0	0	0	1	0	0	0	13559	768	27	1	446	1	RPL10L	14	47120738	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09		47120738	60228802	44	13878											
ZFYVE26	23503	genome.wustl.edu	37	14	68222743	68222743	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr14:68222743C>A	ENST00000347230.4	-	36	6846	c.6708G>T	c.(6706-6708)aaG>aaT	p.K2236N	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.K82N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2236					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.K2236N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAATCAAGTACTTTCCCCAGC	0.443																																																1	Substitution - Missense(1)	ovary(1)	14											311	311	311					14																	68222743		2203	4300	6503	67292496	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6708G>T	14.37:g.68222743C>A	ENSP00000251119:p.Lys2236Asn		67292496	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	7.402	0.632995	0.14322	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.46063	1.74;0.88	5.25	-0.758	0.11049	.	0.445747	0.23920	N	0.043245	T	0.24699	0.0599	L	0.29908	0.895	0.52501	D	0.999953	B;B	0.21520	0.002;0.057	B;B	0.18871	0.009;0.023	T	0.04386	-1.0955	10	0.27082	T	0.32	-2.0447	7.663	0.28415	0.0:0.3968:0.3221:0.2811	.	82;2236	Q96H43;Q68DK2	.;ZFY26_HUMAN	N	2236;2215;82	ENSP00000251119:K2236N;ENSP00000452142:K82N	ENSP00000251119:K2236N	K	-	3	2	ZFYVE26	67292496	0.997000	0.39634	0.739000	0.30968	0.991000	0.79684	0.416000	0.21198	-0.174000	0.10743	0.462000	0.41574	AAG		0.443	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68222743	C	A	68222743	3	1	250	1	0	0	0	0	1	0	0	0	17668	564	20	3	939	3	ZFYVE26	14	68222743	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	21102005	68222743	39126797	45	13879											
RASGRP1	10125	genome.wustl.edu	37	15	38803830	38803830	+	Missense_Mutation	SNP	G	G	A	rs369326621		TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr15:38803830G>A	ENST00000310803.5	-	8	1118	c.941C>T	c.(940-942)tCg>tTg	p.S314L	RASGRP1_ENST00000561180.1_Missense_Mutation_p.S365L|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S314L|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S314L|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S314L|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S266L	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	314	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.S314L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGGACATGCGAACTTGTCTC	0.493													G|||	1	0.000199681	0	0	5008	,	,		22735	0		0	False		,,,				2504	0.001															2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	15						G	LEU/SER,LEU/SER	0,4002		0,0,2001	121	121	121		941,941	5.4	1	15		121	1,8347		0,1,4173	no	missense,missense	RASGRP1	NM_001128602.1,NM_005739.3	145,145	0,1,6174	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging,possibly-damaging	314/763,314/798	38803830	1,12349	2001	4174	6175	36591122	SO:0001583	missense	10125			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.941C>T	15.37:g.38803830G>A	ENSP00000310244:p.Ser314Leu		36591122	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335762	0.95758	0.0	1.2E-4	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.38	5.38	0.77491	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.220979	0.40640	N	0.001060	T	0.42177	0.1191	M	0.69358	2.11	0.80722	D	1	D;P;P;P	0.53462	0.96;0.782;0.782;0.859	P;P;B;B	0.46110	0.504;0.473;0.393;0.342	T	0.44003	-0.9356	10	0.72032	D	0.01	-9.966	19.3333	0.94303	0.0:0.0:1.0:0.0	.	314;314;314;314	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	L	314;314;314;314;266;314;314	ENSP00000310244:S314L;ENSP00000388540:S314L;ENSP00000444762:S266L;ENSP00000413105:S314L	ENSP00000310244:S314L	S	-	2	0	RASGRP1	36591122	1.000000	0.71417	0.967000	0.41034	0.994000	0.84299	9.657000	0.98554	2.793000	0.96121	0.655000	0.94253	TCG		0.493	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		A	38803830	G	A	38803830	3	1	250	1	0	0	0	0	1	0	0	0	13077	1059	37	1	1492	1	RASGRP1	15	38803830	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09		38803830	63727562	46	13880											
DMXL2	23312	genome.wustl.edu	37	15	51829847	51829847	+	Silent	SNP	T	T	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr15:51829847T>G	ENST00000251076.5	-	11	1742	c.1455A>C	c.(1453-1455)ccA>ccC	p.P485P	DMXL2_ENST00000543779.2_Silent_p.P485P|DMXL2_ENST00000449909.3_Silent_p.P485P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	485						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.P485P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCGTAGGCAGTGGCATTGGTA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	15											240	197	212					15																	51829847		2195	4293	6488	49617139	SO:0001819	synonymous_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1455A>C	15.37:g.51829847T>G			49617139	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																				0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51829847	T	G	51829847	2	3	250	1	0	0	0	0	0	0	0	1	4595	1683	59	5		5	DMXL2	15	51829847	Silent	SNP	T	TCGA-24-1563-01A-01W-0553-09	13026017	51829847	50701545	47	13881											
RAB27A	5873	genome.wustl.edu	37	15	55520900	55520900	+	Silent	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr15:55520900A>G	ENST00000396307.2	-	4	501	c.250T>C	c.(250-252)Tta>Cta	p.L84L	RAB27A_ENST00000564609.1_Silent_p.L84L|RAB27A_ENST00000569493.1_Silent_p.L84L|RAB27A_ENST00000336787.1_Silent_p.L84L	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	84			L -> F (in dbSNP:rs4340274).		antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L84L(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GCTGTCGTTAAGCTACGAAAC	0.398																																																1	Substitution - coding silent(1)	ovary(1)	15											97	90	92					15																	55520900		2193	4292	6485	53308192	SO:0001819	synonymous_variant	5873			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.250T>C	15.37:g.55520900A>G			53308192	O00195|Q6FI40|Q9UIR9|Q9Y5U3	Silent	SNP	ENST00000396307.2	37	CCDS10153.1																																																																																				0.398	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		G	55520900	A	G	55520900	2	3	250	1	0	0	0	0	0	0	0	1	12917	69	3	4		4	RAB27A	15	55520900	Silent	SNP	A	TCGA-24-1563-01A-01W-0553-09	3691053	55520900	47010492	48	13882											
IGDCC3	9543	genome.wustl.edu	37	15	65622130	65622130	+	Missense_Mutation	SNP	C	C	A	rs146763554		TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr15:65622130C>A	ENST00000327987.4	-	12	2182	c.1931G>T	c.(1930-1932)gGc>gTc	p.G644V	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	644					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.G644V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGTGGATGCCGATGACGAT	0.637																																																1	Substitution - Missense(1)	ovary(1)	15											127	72	90					15																	65622130		2201	4299	6500	63409183	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1931G>T	15.37:g.65622130C>A	ENSP00000332773:p.Gly644Val		63409183	O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740363	0.69304	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.70399	-0.48	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.79838	-0.1634	10	0.87932	D	0	-29.2905	20.3658	0.98878	0.0:1.0:0.0:0.0	.	644	Q8IVU1	IGDC3_HUMAN	V	644;507	ENSP00000332773:G644V	ENSP00000332773:G644V	G	-	2	0	IGDCC3	63409183	1.000000	0.71417	0.993000	0.49108	0.168000	0.22595	7.792000	0.85828	2.820000	0.97059	0.650000	0.86243	GGC		0.637	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		A	65622130	C	A	65622130	3	1	250	1	0	0	0	0	1	0	0	0	7568	739	26	3	525	3	IGDCC3	15	65622130	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	10101230	65622130	36909262	49	13883											
ZKSCAN2	342357	genome.wustl.edu	37	16	25255569	25255569	+	Silent	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr16:25255569C>T	ENST00000328086.7	-	6	2321	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	506					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K506K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CAAGAAAAGTCTTGGTTTCTT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	16											52	53	52					16																	25255569		2196	4299	6495	25163070	SO:0001819	synonymous_variant	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1518G>A	16.37:g.25255569C>T			25163070	A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	CCDS32410.1																																																																																				0.438	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		T	25255569	C	T	25255569	2	4	250	1	0	0	0	0	0	0	0	1	17687	912	32	2		2	ZKSCAN2	16	25255569	Silent	SNP	C	TCGA-24-1563-01A-01W-0553-09		25255569	65099184	50	13884											
PRSS36	146547	genome.wustl.edu	37	16	31159926	31159926	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr16:31159926C>G	ENST00000268281.4	-	5	401	c.343G>C	c.(343-345)Gac>Cac	p.D115H	PRSS36_ENST00000418068.2_Missense_Mutation_p.D115H|PRSS36_ENST00000569305.1_Missense_Mutation_p.D115H	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	115	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.D115H(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGCGCGCCGTCCAGGGGCCCG	0.726																																																1	Substitution - Missense(1)	ovary(1)	16											14	19	17					16																	31159926		2053	4086	6139	31067427	SO:0001583	missense	146547			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.343G>C	16.37:g.31159926C>G	ENSP00000268281:p.Asp115His		31067427	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745820	0.69418	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.83673	-1.75;-1.75	4.95	3.99	0.46301	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.82481	0.5046	L	0.41415	1.275	0.09310	N	1	P;P;P	0.52061	0.728;0.95;0.897	P;P;P	0.54924	0.674;0.764;0.696	T	0.71919	-0.4447	9	0.49607	T	0.09	.	8.5621	0.33516	0.0:0.8954:0.0:0.1046	.	115;115;115	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	H	115	ENSP00000268281:D115H;ENSP00000407160:D115H	ENSP00000268281:D115H	D	-	1	0	PRSS36	31067427	0.002000	0.14202	0.979000	0.43373	0.949000	0.60115	0.771000	0.26633	2.435000	0.82474	0.555000	0.69702	GAC		0.726	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		G	31159926	C	G	31159926	3	3	250	1	0	0	0	0	1	0	0	0	12628	855	30	3	2268	3	PRSS36	16	31159926	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	5904357	31159926	59194827	51	13885											
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	250	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-24-1563-01A-01W-0553-09		7578265	73616945	52	13886											
MYH1	4619	genome.wustl.edu	37	17	10399611	10399611	+	Missense_Mutation	SNP	G	G	A	rs201002878		TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr17:10399611G>A	ENST00000226207.5	-	34	5006	c.4912C>T	c.(4912-4914)Cgc>Tgc	p.R1638C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1638					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1638C(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGCCATGCGGTTGGCATGG	0.502																																																1	Substitution - Missense(1)	ovary(1)	17											195	171	179					17																	10399611		2203	4300	6503	10340336	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4912C>T	17.37:g.10399611G>A	ENSP00000226207:p.Arg1638Cys		10340336	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090151	0.36855	.	.	ENSG00000109061	ENST00000226207	D	0.82167	-1.58	5.53	4.51	0.55191	Myosin tail (1);	0.000000	0.44097	U	0.000485	D	0.88709	0.6510	M	0.93507	3.425	0.58432	D	0.999998	P	0.35011	0.48	B	0.38985	0.287	D	0.91075	0.4895	10	0.87932	D	0	.	16.3189	0.82938	0.0:0.0:0.8676:0.1324	.	1638	P12882	MYH1_HUMAN	C	1638	ENSP00000226207:R1638C	ENSP00000226207:R1638C	R	-	1	0	MYH1	10340336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.022000	0.41030	2.758000	0.94735	0.655000	0.94253	CGC		0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10399611	G	A	10399611	3	1	250	1	0	0	0	0	1	0	0	0	10029	1116	39	1	935	1	MYH1	17	10399611	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09	2821346	10399611	70795599	53	13887											
TBC1D28	254272	genome.wustl.edu	37	17	18541683	18541683	+	Silent	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr17:18541683C>T	ENST00000345096.4	-	7	1029	c.330G>A	c.(328-330)gcG>gcA	p.A110A	TBC1D28_ENST00000405044.1_Silent_p.A110A			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	110	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)	p.A110A(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AAAGTGACAACGCCCGGCCCC	0.507																																																1	Substitution - coding silent(1)	ovary(1)	17											122	123	123					17																	18541683		1930	4118	6048	18482408	SO:0001819	synonymous_variant	254272				CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.330G>A	17.37:g.18541683C>T			18482408	Q2M2E1	Silent	SNP	ENST00000345096.4	37	CCDS42273.1																																																																																				0.507	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		T	18541683	C	T	18541683	2	4	250	1	0	0	0	0	0	0	0	1	15617	523	19	1		1	TBC1D28	17	18541683	Silent	SNP	C	TCGA-24-1563-01A-01W-0553-09	8142072	18541683	62653527	54	13888											
BCAS3	54828	genome.wustl.edu	37	17	58967062	58967062	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr17:58967062A>G	ENST00000390652.5	+	10	699	c.668A>G	c.(667-669)tAt>tGt	p.Y223C	BCAS3_ENST00000588874.1_5'UTR|BCAS3_ENST00000589222.1_Missense_Mutation_p.Y223C|BCAS3_ENST00000588462.1_Missense_Mutation_p.Y223C|BCAS3_ENST00000408905.3_Missense_Mutation_p.Y223C|BCAS3_ENST00000407086.3_Missense_Mutation_p.Y223C|BCAS3_ENST00000585744.1_5'UTR	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.Y223C(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCAGGCTGCTATCCATGTCCA	0.393																																																1	Substitution - Missense(1)	ovary(1)	17											103	101	101					17																	58967062		1835	4091	5926	56321844	SO:0001583	missense	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.668A>G	17.37:g.58967062A>G	ENSP00000375067:p.Tyr223Cys		56321844		Missense_Mutation	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.625046	0.66901	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000405217	T;T;T	0.06933	3.24;3.24;3.24	5.99	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.66847	0.935;0.947;0.936;0.947	T	0.00534	-1.1684	10	0.72032	D	0.01	.	12.5854	0.56414	0.8754:0.0:0.0:0.1246	.	28;223;223;223	Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;BCAS3_HUMAN;.	C	223;223;223;223;28	ENSP00000375067:Y223C;ENSP00000385323:Y223C;ENSP00000386173:Y223C	ENSP00000375067:Y223C	Y	+	2	0	BCAS3	56321844	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.781000	0.85668	1.058000	0.40530	0.533000	0.62120	TAT		0.393	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		G	58967062	A	G	58967062	3	3	250	1	0	0	0	0	1	0	0	0	1352	449	16	4	702	4	BCAS3	17	58967062	Missense_Mutation	SNP	A	TCGA-24-1563-01A-01W-0553-09	40425379	58967062	22228148	55	13889											
EMR1	2015	genome.wustl.edu	37	19	6919735	6919735	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr19:6919735A>G	ENST00000312053.4	+	13	1634	c.1597A>G	c.(1597-1599)Atc>Gtc	p.I533V	EMR1_ENST00000381407.5_Missense_Mutation_p.I392V|EMR1_ENST00000450315.3_Missense_Mutation_p.I356V|EMR1_ENST00000250572.8_Missense_Mutation_p.I533V|EMR1_ENST00000381404.4_Missense_Mutation_p.I481V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	533	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I533V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGATCCAATCATCTACACTCT	0.473																																																1	Substitution - Missense(1)	ovary(1)	19											85	77	80					19																	6919735		2203	4300	6503	6870735	SO:0001583	missense	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1597A>G	19.37:g.6919735A>G	ENSP00000311545:p.Ile533Val		6870735	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	A	6.416	0.444853	0.12164	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77489	-1.06;-1.1;-1.1;0.1;0.41	3.99	-1.45	0.08828	.	.	.	.	.	T	0.52338	0.1728	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.15473	0.013;0.006;0.004;0.01;0.001	B;B;B;B;B	0.11329	0.006;0.004;0.005;0.005;0.002	T	0.39165	-0.9627	9	0.06365	T	0.9	.	4.3158	0.10993	0.335:0.3328:0.0:0.3322	.	356;392;533;481;533	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	V	533;533;481;533;392;356	ENSP00000311545:I533V;ENSP00000370811:I481V;ENSP00000250572:I533V;ENSP00000370814:I392V;ENSP00000405974:I356V	ENSP00000250572:I533V	I	+	1	0	EMR1	6870735	0.001000	0.12720	0.001000	0.08648	0.444000	0.32077	-0.138000	0.10374	-0.114000	0.11936	0.402000	0.26972	ATC		0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			G	6919735	A	G	6919735	3	3	250	1	0	0	0	0	1	0	0	0	5104	217	8	4	1647	4	EMR1	19	6919735	Missense_Mutation	SNP	A	TCGA-24-1563-01A-01W-0553-09		6919735	52209248	56	13890											
ARHGEF18	23370	genome.wustl.edu	37	19	7523469	7523469	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr19:7523469G>T	ENST00000359920.6	+	9	1942	c.1689G>T	c.(1687-1689)atG>atT	p.M563I	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.M405I|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.C521F	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	563	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M405I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGAAAGCGATGTTTCTGATCA	0.547																																																1	Substitution - Missense(1)	ovary(1)	19											133	113	120					19																	7523469		2203	4300	6503	7429469	SO:0001583	missense	23370			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1689G>T	19.37:g.7523469G>T	ENSP00000352995:p.Met563Ile		7429469	A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848718	0.91277	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.62364	0.03;0.03	4.99	4.99	0.66335	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.64271	0.2583	L	0.39566	1.225	0.80722	D	1	B;B	0.32526	0.324;0.374	B;B	0.44224	0.413;0.444	T	0.67906	-0.5549	10	0.72032	D	0.01	-40.4302	15.7945	0.78398	0.0:0.0:1.0:0.0	.	405;563	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	I	405;563	ENSP00000319200:M405I;ENSP00000352995:M563I	ENSP00000319200:M405I	M	+	3	0	ARHGEF18	7429469	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.467000	0.97671	2.324000	0.78689	0.591000	0.81541	ATG		0.547	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		T	7523469	G	T	7523469	3	4	250	1	0	0	0	0	1	0	0	0	901	1377	48	3	1723	3	ARHGEF18	19	7523469	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09	603734	7523469	51605514	57	13891											
ZNF177	7730	genome.wustl.edu	37	19	9492249	9492249	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr19:9492249C>G	ENST00000589262.1	+	6	1308	c.1242C>G	c.(1240-1242)caC>caG	p.H414Q	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Missense_Mutation_p.H254Q|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.H414Q|ZNF177_ENST00000602738.1_Missense_Mutation_p.H254Q|ZNF177_ENST00000541595.2_Missense_Mutation_p.H254Q	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	414					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H254Q(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TTATTGTGCACAAGAGAACTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	19											139	137	138					19																	9492249		2203	4300	6503	9353249	SO:0001583	missense	7730			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1242C>G	19.37:g.9492249C>G	ENSP00000468531:p.His414Gln		9353249	B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065294	0.36470	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	D;D;D	0.86865	-2.18;-2.18;-2.18	2.49	-0.861	0.10676	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92557	0.7636	M	0.89658	3.05	0.24211	N	0.995473	D;D	0.89917	1.0;1.0	D;D	0.76575	0.987;0.988	D	0.89711	0.3912	8	0.87932	D	0	.	5.9678	0.19334	0.0:0.4283:0.0:0.5717	.	414;254	B4DY57;Q13360	.;ZN177_HUMAN	Q	254;254;414	ENSP00000445323:H254Q;ENSP00000341497:H254Q;ENSP00000415070:H414Q	ENSP00000341497:H254Q	H	+	3	2	ZNF177	9353249	0.005000	0.15991	0.352000	0.25734	0.964000	0.63967	-0.059000	0.11731	-0.103000	0.12175	-0.251000	0.11542	CAC		0.468	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		G	9492249	C	G	9492249	3	3	250	1	0	0	0	0	1	0	0	0	17746	477	17	3	1260	3	ZNF177	19	9492249	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	1968780	9492249	49636734	58	13892											
ZNF429	353088	genome.wustl.edu	37	19	21720471	21720471	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr19:21720471G>A	ENST00000358491.4	+	4	1824	c.1616G>A	c.(1615-1617)tGt>tAt	p.C539Y	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	539					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.C539Y(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CCTTACAAATGTGAAGAATGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	19											41	46	44					19																	21720471		2136	4268	6404	21512311	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1616G>A	19.37:g.21720471G>A	ENSP00000351280:p.Cys539Tyr		21512311	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	10.24	1.295907	0.23564	.	.	ENSG00000197013	ENST00000358491	D	0.85088	-1.94	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94108	0.8111	H	0.97806	4.08	0.30037	N	0.81296	D	0.89917	1.0	D	0.72075	0.976	D	0.88168	0.2862	9	0.62326	D	0.03	.	8.5632	0.33523	0.0:0.0:1.0:0.0	.	539	Q86V71	ZN429_HUMAN	Y	539	ENSP00000351280:C539Y	ENSP00000351280:C539Y	C	+	2	0	ZNF429	21512311	0.994000	0.37717	0.291000	0.24904	0.291000	0.27294	2.810000	0.47979	0.293000	0.22520	0.298000	0.19748	TGT		0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		A	21720471	G	A	21720471	3	1	250	1	0	0	0	0	1	0	0	0	17902	1377	48	2	1630	2	ZNF429	19	21720471	Missense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09	12228222	21720471	37408512	59	13893											
NLRP9	338321	genome.wustl.edu	37	19	56249720	56249720	+	Silent	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr19:56249720C>T	ENST00000332836.2	-	1	48	c.21G>A	c.(19-21)tcG>tcA	p.S7S	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	7	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S7S(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGCCAAAATCCGAAAAAAAAG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	19											70	76	74					19																	56249720		2199	4300	6499	60941532	SO:0001819	synonymous_variant	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.21G>A	19.37:g.56249720C>T			60941532	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																				0.398	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		T	56249720	C	T	56249720	2	4	250	1	0	0	0	0	0	0	0	1	10484	639	23	1		1	NLRP9	19	56249720	Silent	SNP	C	TCGA-24-1563-01A-01W-0553-09	34529249	56249720	2879263	60	13894											
NLRP5	126206	genome.wustl.edu	37	19	56539283	56539283	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr19:56539283C>T	ENST00000390649.3	+	7	1684	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	562	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R562C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCTGAGCTCCGTGCTCTGTT	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											58	61	60					19																	56539283		2114	4234	6348	61231095	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1684C>T	19.37:g.56539283C>T	ENSP00000375063:p.Arg562Cys		61231095	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632529	0.29068	.	.	ENSG00000171487	ENST00000390649	T	0.72282	-0.64	2.97	-0.6	0.11642	.	1.365850	0.05348	N	0.531385	T	0.63450	0.2512	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.53649	0.731	T	0.53394	-0.8445	10	0.51188	T	0.08	.	3.9613	0.09412	0.0:0.1397:0.4439:0.4164	.	562	P59047	NALP5_HUMAN	C	562	ENSP00000375063:R562C	ENSP00000375063:R562C	R	+	1	0	NLRP5	61231095	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.697000	0.25556	-0.206000	0.10203	-1.102000	0.02115	CGT		0.542	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56539283	C	T	56539283	3	4	250	1	0	0	0	0	1	0	0	0	10480	652	23	1	1710	1	NLRP5	19	56539283	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	289563	56539283	2589700	61	13895											
TGM6	343641	genome.wustl.edu	37	20	2380980	2380980	+	Silent	SNP	G	G	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr20:2380980G>T	ENST00000202625.2	+	7	940	c.879G>T	c.(877-879)cgG>cgT	p.R293R	TGM6_ENST00000381423.1_Silent_p.R293R|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	293					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R293R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TAGCCACACGGGTCGTGTCCA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	20											108	94	99					20																	2380980		2203	4300	6503	2328980	SO:0001819	synonymous_variant	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.879G>T	20.37:g.2380980G>T			2328980	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	CCDS13025.1																																																																																				0.627	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		T	2380980	G	T	2380980	2	4	250	1	0	0	0	0	0	0	0	1	15834	1219	43	3		3	TGM6	20	2380980	Silent	SNP	G	TCGA-24-1563-01A-01W-0553-09		2380980	60644540	62	13896											
SYCP2	10388	genome.wustl.edu	37	20	58441389	58441389	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr20:58441389T>A	ENST00000357552.3	-	41	4504	c.4279A>T	c.(4279-4281)Aaa>Taa	p.K1427*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.K1427*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1427					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.K1427*(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGTGAATCTTTTTCAAAATTC	0.239																																																1	Substitution - Nonsense(1)	ovary(1)	20											30	35	33					20																	58441389		2119	4219	6338	57874784	SO:0001587	stop_gained	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4279A>T	20.37:g.58441389T>A	ENSP00000350162:p.Lys1427*		57874784	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Nonsense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308603	0.81247	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	.	.	.	5.5	5.5	0.81552	.	0.156567	0.45126	D	0.000386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3425	11.1279	0.48330	0.0:0.0:0.1543:0.8457	.	.	.	.	X	1427;1427;113	.	ENSP00000350162:K1427X	K	-	1	0	SYCP2	57874784	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.547000	0.45786	2.207000	0.71202	0.455000	0.32223	AAA		0.239	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		A	58441389	T	A	58441389	4	1	250	1	0	0	0	0	0	1	0	0	15432	1850	64	5	333	5	SYCP2	20	58441389	Nonsense_Mutation	SNP	T	TCGA-24-1563-01A-01W-0553-09	56060409	58441389	4584131	63	13897											
CABIN1	23523	genome.wustl.edu	37	22	24491950	24491950	+	Silent	SNP	G	G	A	rs552874056		TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr22:24491950G>A	ENST00000398319.2	+	25	4228	c.3843G>A	c.(3841-3843)ggG>ggA	p.G1281G	CABIN1_ENST00000405822.2_Silent_p.G1231G|CABIN1_ENST00000263119.5_Silent_p.G1281G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1281					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.G1281G(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCGATTCTGGGGTTGGTGCAG	0.547													G|||	1	0.000199681	0	0	5008	,	,		18331	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	22											128	133	131					22																	24491950		2203	4300	6503	22821950	SO:0001819	synonymous_variant	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3843G>A	22.37:g.24491950G>A			22821950	G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	CCDS13823.1																																																																																				0.547	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24491950	G	A	24491950	2	1	250	1	0	0	0	0	0	0	0	1	2528	1219	43	2		2	CABIN1	22	24491950	Silent	SNP	G	TCGA-24-1563-01A-01W-0553-09		24491950	26812616	64	13898											
UQCR10	29796	genome.wustl.edu	37	22	30163396	30163396	+	Silent	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chr22:30163396C>T	ENST00000330029.6	+	1	39	c.9C>T	c.(7-9)gcC>gcT	p.A3A	UQCR10_ENST00000401406.3_Silent_p.A3A|ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	3					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.A3A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						ACATGGCGGCCGCGACGTTGA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	22											46	53	51					22																	30163396		2045	4183	6228	28493396	SO:0001819	synonymous_variant	29796			AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"Mitochondrial respiratory chain complex / Complex III"	30863	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa", "complex III subunit 9"	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.9C>T	22.37:g.30163396C>T			28493396	B5MCM5|Q9T2V6	Silent	SNP	ENST00000330029.6	37	CCDS46680.1																																																																																				0.602	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		T	30163396	C	T	30163396	2	4	250	1	0	0	0	0	0	0	0	1	17016	639	23	1		1	UQCR10	22	30163396	Silent	SNP	C	TCGA-24-1563-01A-01W-0553-09	5671446	30163396	21141170	65	13899											
CSF2RA	1438	genome.wustl.edu	37	X	1419504	1419504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chrX:1419504G>T	ENST00000381524.3	+	10	1117	c.931G>T	c.(931-933)Gaa>Taa	p.E311*	CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.E311*|CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.E311*|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.E311*|CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.E178*|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.E311*|CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.E311*|RNA5SP498_ENST00000411342.1_RNA|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.E311*|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.E311*			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	311	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.E311*(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCCTGGAGTGAAGCCATTGA	0.537																																					Esophageal Squamous(131;723 1707 25334 40494 41806)											1	Substitution - Nonsense(1)	ovary(1)	X											127	115	119					X																	1419504		2203	4296	6499	1379504	SO:0001587	stop_gained	1438			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.931G>T	X.37:g.1419504G>T	ENSP00000370935:p.Glu311*		1379504	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Nonsense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.528359	0.44969	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	.	.	.	0.798	-0.595	0.11660	.	0.415366	0.17164	U	0.184576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	4.8924	0.13733	0.0:0.4475:0.5525:0.0	.	.	.	.	X	311;311;311;178;311;311;311;311;311	.	ENSP00000347606:E311X	E	+	1	0	CSF2RA	1379504	0.059000	0.20769	0.004000	0.12327	0.015000	0.08874	-0.266000	0.08631	-0.221000	0.09973	0.100000	0.15512	GAA		0.537	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			T	1419504	G	T	1419504	4	4	250	1	0	0	0	0	0	1	0	0	3934	1291	45	3	961	3	CSF2RA	23	1419504	Nonsense_Mutation	SNP	G	TCGA-24-1563-01A-01W-0553-09		1419504	153851056	66	13900											
ZFX	7543	genome.wustl.edu	37	X	24226335	24226335	+	Splice_Site	SNP	A	A	G			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chrX:24226335A>G	ENST00000379177.1	+	9	1368	c.941A>G	c.(940-942)aAt>aGt	p.N314S	ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Splice_Site_p.N353S|ZFX_ENST00000338565.3_Splice_Site_p.N264S|ZFX_ENST00000304543.5_Splice_Site_p.N314S|ZFX_ENST00000539115.1_Splice_Site_p.N85S|ZFX_ENST00000379188.3_Splice_Site_p.N314S	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	314					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.N314S(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTCTACTTAGATGTTGCTGAA	0.443																																					Esophageal Squamous(20;306 562 7346 32868 37983)											1	Substitution - Missense(1)	ovary(1)	X											48	47	47					X																	24226335		2203	4300	6503	24136256	SO:0001630	splice_region_variant	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.941-1A>G	X.37:g.24226335A>G			24136256	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	A	8.029	0.761437	0.15914	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.53	4.37	0.52481	Transcriptional activator, Zfx / Zfy domain (1);	0.153170	0.45126	D	0.000388	T	0.28067	0.0692	N	0.14661	0.345	0.39123	D	0.961691	B;B;B;B	0.19445	0.008;0.0;0.0;0.036	B;B;B;B	0.19666	0.011;0.004;0.005;0.026	T	0.13098	-1.0522	9	.	.	.	.	10.1865	0.43000	0.9212:0.0:0.0788:0.0	.	353;83;314;318	B9EG97;F5GYV7;P17010;Q59EB9	.;.;ZFX_HUMAN;.	S	85;314;83;314;314;353;264;109	ENSP00000438233:N85S;ENSP00000368486:N314S;ENSP00000368475:N314S;ENSP00000304985:N314S;ENSP00000441382:N353S;ENSP00000343384:N264S	.	N	+	2	0	ZFX	24136256	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.073000	0.57570	1.959000	0.56917	0.486000	0.48141	AAT		0.443	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	Missense_Mutation	G	24226335	A	G	24226335	5	3	250	1	0	0	0	0	0	0	1	0	17661	347	12	4	959	4	ZFX	23	24226335	Splice_Site	SNP	A	TCGA-24-1563-01A-01W-0553-09	22806831	24226335	131044225	67	13901											
SMC1A	8243	genome.wustl.edu	37	X	53432459	53432459	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chrX:53432459C>T	ENST00000322213.4	-	11	2004	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R392H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	626	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R626H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GGCAATGCGGCGGGCATCTTC	0.532																																																1	Substitution - Missense(1)	ovary(1)	X											50	45	47					X																	53432459		2203	4300	6503	53449184	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1877G>A	X.37:g.53432459C>T	ENSP00000323421:p.Arg626His		53449184	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038522	0.93630	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86497	-2.13;-2.13	5.55	5.55	0.83447	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.987;0.983	D	0.95461	0.8543	10	0.72032	D	0.01	.	17.4486	0.87586	0.0:1.0:0.0:0.0	.	392;604;626	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	H	626;392	ENSP00000323421:R626H;ENSP00000364489:R392H	ENSP00000323421:R626H	R	-	2	0	SMC1A	53449184	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.791000	0.69045	2.476000	0.83614	0.600000	0.82982	CGC		0.532	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		T	53432459	C	T	53432459	3	4	250	1	0	0	0	0	1	0	0	0	14784	768	27	1	1884	1	SMC1A	23	53432459	Missense_Mutation	SNP	C	TCGA-24-1563-01A-01W-0553-09	29206124	53432459	101838101	68	13902											
STAG2	10735	genome.wustl.edu	37	X	123184055	123184055	+	Silent	SNP	C	C	A			TCGA-24-1563-01A-01W-0553-09	TCGA-24-1563-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	b6c46b53-f94d-4936-9005-518c8f1c1449	45220598-26dc-4163-bb30-1aa5662006e1	g.chrX:123184055C>A	ENST00000371160.1	+	11	1203	c.913C>A	c.(913-915)Cga>Aga	p.R305R	STAG2_ENST00000354548.5_Silent_p.R236R|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.R305R|STAG2_ENST00000371157.3_Silent_p.R305R|STAG2_ENST00000371144.3_Silent_p.R305R|STAG2_ENST00000371145.3_Silent_p.R305R	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	305	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R305R(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCTGAAATTCGAGCTATTTG	0.358																																																1	Substitution - coding silent(1)	ovary(1)	X											232	196	209					X																	123184055		2203	4300	6503	123011736	SO:0001819	synonymous_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.913C>A	X.37:g.123184055C>A			123011736	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	CCDS14607.1																																																																																				0.358	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		A	123184055	C	A	123184055	2	1	250	1	0	0	0	0	0	0	0	1	15245	876	31	3		3	STAG2	23	123184055	Silent	SNP	C	TCGA-24-1563-01A-01W-0553-09	69751596	123184055	32086505	69	13903											
EPHB2	2048	broad.mit.edu	37	1	23208913	23208913	+	Silent	SNP	G	G	A	rs200120268		TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr1:23208913G>A	ENST00000400191.3	+	6	1383	c.1365G>A	c.(1363-1365)tcG>tcA	p.S455S	EPHB2_ENST00000544305.1_Silent_p.S455S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S449S|EPHB2_ENST00000374630.3_Silent_p.S455S|EPHB2_ENST00000374632.3_Silent_p.S455S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	455	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.S455S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTACCCTGTCGTGGTCCCAGC	0.592													G|||	1	0.000199681	0	0	5008	,	,		22349	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1											151	135	140					1																	23208913		2203	4300	6503	23081500	SO:0001819	synonymous_variant	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1365G>A	1.37:g.23208913G>A			23081500	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37																																																																																					0.592	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		A	23208913	G	A	23208913	2	1	251	1	0	0	0	0	0	0	0	1	5175	1132	40	1		1	EPHB2	1	23208913	Silent	SNP	G	TCGA-24-1564-01A-01W-0551-08		23208913	226041708	1	13904											
CSMD2	114784	broad.mit.edu	37	1	34076684	34076684	+	Silent	SNP	G	G	A			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr1:34076684G>A	ENST00000373380.1	-	20	3139	c.2919C>T	c.(2917-2919)agC>agT	p.S973S	CSMD2_ENST00000373388.2_Silent_p.S199S|CSMD2_ENST00000373377.1_Silent_p.S199S|CSMD2_ENST00000373381.4_Silent_p.S2100S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2060	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2060S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGAGTGGTCGCTGTGGAAAT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	1											119	100	107					1																	34076684		2203	4300	6503	33849271	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2919C>T	1.37:g.34076684G>A			33849271	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37																																																																																					0.567	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		A	34076684	G	A	34076684	2	1	251	1	0	0	0	0	0	0	0	1	3945	1078	38	1		1	CSMD2	1	34076684	Silent	SNP	G	TCGA-24-1564-01A-01W-0551-08	10867771	34076684	215173937	2	13905											
PLEKHA6	22874	broad.mit.edu	37	1	204214794	204214794	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr1:204214794C>T	ENST00000272203.3	-	14	2297	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G681R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	661								p.G661R(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTCCTCAGCCCCTCCATCACG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											138	117	124					1																	204214794		2203	4300	6503	202481417	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1981G>A	1.37:g.204214794C>T	ENSP00000272203:p.Gly661Arg		202481417	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947300	0.92593	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.78595	-1.19;-1.19	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	M	0.75777	2.31	0.80722	D	1	P	0.47191	0.891	P	0.47206	0.541	D	0.85680	0.1300	10	0.87932	D	0	-27.1693	18.1807	0.89777	0.0:1.0:0.0:0.0	.	661	Q9Y2H5	PKHA6_HUMAN	R	661;681	ENSP00000272203:G661R;ENSP00000402046:G681R	ENSP00000272203:G661R	G	-	1	0	PLEKHA6	202481417	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.158000	0.77470	2.406000	0.81754	0.563000	0.77884	GGG		0.592	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		T	204214794	C	T	204214794	3	4	251	1	0	0	0	0	1	0	0	0	12060	623	22	2	1201	2	PLEKHA6	1	204214794	Missense_Mutation	SNP	C	TCGA-24-1564-01A-01W-0551-08	170138110	204214794	45035827	3	13906											
ACTN2	88	broad.mit.edu	37	1	236920879	236920879	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr1:236920879A>G	ENST00000366578.4	+	18	2414	c.2248A>G	c.(2248-2250)Atc>Gtc	p.I750V	ACTN2_ENST00000542672.1_Missense_Mutation_p.I750V|ACTN2_ENST00000546208.1_Missense_Mutation_p.I244V	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	750					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.I750V(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCGAAGGGCATCACCCAGGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											145	123	130					1																	236920879		2203	4300	6503	234987502	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2248A>G	1.37:g.236920879A>G	ENSP00000355537:p.Ile750Val		234987502	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587027	0.46110	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.63096	-0.02;-0.02;-0.02	5.73	5.73	0.89815	EF-hand-like domain (1);	0.171345	0.52532	D	0.000065	T	0.68384	0.2995	L	0.42008	1.315	0.80722	D	1	B;B;B;B	0.23058	0.044;0.004;0.044;0.079	B;B;B;P	0.45506	0.14;0.014;0.14;0.483	T	0.65001	-0.6274	10	0.32370	T	0.25	.	16.0225	0.80509	1.0:0.0:0.0:0.0	.	535;750;520;750	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	V	750;750;244;519	ENSP00000443495:I750V;ENSP00000355537:I750V;ENSP00000438384:I244V	ENSP00000355537:I750V	I	+	1	0	ACTN2	234987502	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.307000	0.96226	2.198000	0.70561	0.533000	0.62120	ATC		0.493	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		G	236920879	A	G	236920879	3	3	251	1	0	0	0	0	1	0	0	0	205	217	8	4	2318	4	ACTN2	1	236920879	Missense_Mutation	SNP	A	TCGA-24-1564-01A-01W-0551-08	32706085	236920879	12329742	4	13907											
VRK2	7444	broad.mit.edu	37	2	58275998	58275998	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr2:58275998T>A	ENST00000435505.2	+	5	777	c.32T>A	c.(31-33)cTt>cAt	p.L11H	VRK2_ENST00000440705.2_Intron|VRK2_ENST00000417641.2_Missense_Mutation_p.L11H|VRK2_ENST00000340157.4_Missense_Mutation_p.L11H|VRK2_ENST00000412104.2_Missense_Mutation_p.L11H			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	11					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L11H(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AAATACAAACTTCCTATTCCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											81	85	84					2																	58275998		2203	4300	6503	58129502	SO:0001583	missense	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.32T>A	2.37:g.58275998T>A	ENSP00000408002:p.Leu11His		58129502	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246800	0.80024	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000428021	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.86028	2.79	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.987;0.984	T	0.76992	-0.2753	10	0.87932	D	0	-15.3956	14.9988	0.71455	0.0:0.0:0.0:1.0	.	11;11;11	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	H	11;11;11;11;11;11;16	ENSP00000408002:L11H;ENSP00000402375:L11H;ENSP00000404156:L11H;ENSP00000342381:L11H;ENSP00000404961:L16H	ENSP00000342381:L11H	L	+	2	0	VRK2	58129502	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.124000	0.64709	2.279000	0.76181	0.533000	0.62120	CTT		0.378	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		A	58275998	T	A	58275998	3	1	251	1	0	0	0	0	1	0	0	0	17220	1609	56	5	34	5	VRK2	2	58275998	Missense_Mutation	SNP	T	TCGA-24-1564-01A-01W-0551-08		58275998	184923375	5	13908											
MCTP1	79772	broad.mit.edu	37	5	94046533	94046533	+	Silent	SNP	G	G	C			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr5:94046533G>C	ENST00000515393.1	-	21	2819	c.2820C>G	c.(2818-2820)gtC>gtG	p.V940V	MCTP1_ENST00000429576.2_Silent_p.V633V|MCTP1_ENST00000505078.1_Silent_p.V456V|MCTP1_ENST00000312216.8_Silent_p.V719V|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	940					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V940V(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CCCAGACAAGGACAATGTATC	0.483																																																1	Substitution - coding silent(1)	ovary(1)	5											99	84	90					5																	94046533		2203	4300	6503	94072289	SO:0001819	synonymous_variant	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2820C>G	5.37:g.94046533G>C			94072289	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	CCDS34203.1																																																																																				0.483	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		C	94046533	G	C	94046533	2	2	251	1	0	0	0	0	0	0	0	1	9400	1161	41	3		3	MCTP1	5	94046533	Silent	SNP	G	TCGA-24-1564-01A-01W-0551-08		94046533	86868727	6	13909											
DEFB110	245913	broad.mit.edu	37	6	49989593	49989593	+	Splice_Site	SNP	C	C	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr6:49989593C>T	ENST00000371148.2	-	1	101		c.e1+1		DEFB110_ENST00000393660.2_Splice_Site	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.?(2)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TTGCATATTACCTGGTAAAAT	0.303																																																2	Unknown(2)	ovary(2)	6											32	37	35					6																	49989593		2201	4297	6498	50097552	SO:0001630	splice_region_variant	245913			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.55+1G>A	6.37:g.49989593C>T			50097552	Q30KR0	Splice_Site	SNP	ENST00000371148.2	37	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936656	0.18206	.	.	ENSG00000203970	ENST00000393660;ENST00000371148	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2057	0.59795	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DEFB110	50097552	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	3.083000	0.50136	2.569000	0.86673	0.467000	0.42956	.		0.303	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728	Intron	T	49989593	C	T	49989593	5	4	251	1	0	0	0	0	0	0	1	0	4400	521	18	2	291	2	DEFB110	6	49989593	Splice_Site	SNP	C	TCGA-24-1564-01A-01W-0551-08		49989593	121125474	7	13910											
GSTA5	221357	broad.mit.edu	37	6	52696672	52696672	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr6:52696672C>T	ENST00000370989.2	-	6	672	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	GSTA5_ENST00000284562.2_Missense_Mutation_p.E215K|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	215					glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.E215K(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCCTTGCTTCTTCTAAAGAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	6											142	137	138					6																	52696672		2203	4300	6503	52804631	SO:0001583	missense	221357			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"Glutathione S-transferases / Soluble"	19662	protein-coding gene	gene with protein product		607605	"glutathione S-transferase A5"			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.643G>A	6.37:g.52696672C>T	ENSP00000360028:p.Glu215Lys		52804631	Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	1.041	-0.678871	0.03378	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01516	4.81;4.81	2.37	-4.75	0.03239	Glutathione S-transferase, C-terminal-like (1);	0.889303	0.09686	N	0.769158	T	0.00328	0.0010	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44050	-0.9353	10	0.12103	T	0.63	.	5.9242	0.19099	0.0:0.409:0.1309:0.4601	.	215	Q7RTV2	GSTA5_HUMAN	K	215	ENSP00000360028:E215K;ENSP00000284562:E215K	ENSP00000284562:E215K	E	-	1	0	GSTA5	52804631	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-3.082000	0.00613	-2.048000	0.00907	-1.206000	0.01644	GAA		0.448	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		T	52696672	C	T	52696672	3	4	251	1	0	0	0	0	1	0	0	0	6834	922	32	2	29	2	GSTA5	6	52696672	Missense_Mutation	SNP	C	TCGA-24-1564-01A-01W-0551-08	2707079	52696672	118418395	8	13911											
KHDRBS2	202559	broad.mit.edu	37	6	62390875	62390875	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr6:62390875C>A	ENST00000281156.4	-	9	1321	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.R348I(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTTCAATATCTACCATAGGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	6											188	131	150					6																	62390875		2203	4300	6503	62448834	SO:0001583	missense	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.1043G>T	6.37:g.62390875C>A	ENSP00000281156:p.Arg348Ile		62448834	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081469	0.55753	.	.	ENSG00000112232	ENST00000281156	T	0.59224	0.28	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68595	-0.5367	10	0.87932	D	0	.	18.9222	0.92529	0.0:1.0:0.0:0.0	.	348	Q5VWX1	KHDR2_HUMAN	I	348	ENSP00000281156:R348I	ENSP00000281156:R348I	R	-	2	0	KHDRBS2	62448834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.395000	0.73228	2.541000	0.85698	0.650000	0.86243	AGA		0.483	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		A	62390875	C	A	62390875	3	1	251	1	0	0	0	0	1	0	0	0	8147	913	32	3	10	3	KHDRBS2	6	62390875	Missense_Mutation	SNP	C	TCGA-24-1564-01A-01W-0551-08	9694203	62390875	108724192	9	13912											
CACNA2D1	781	broad.mit.edu	37	7	81714151	81714151	+	Missense_Mutation	SNP	C	C	T	rs370389203		TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr7:81714151C>T	ENST00000356253.5	-	7	847	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.E198K|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.E198K			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	198					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E198K(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGGTCTTCCTCGCGATTCTTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	7						C	LYS/GLU	0,4406		0,0,2203	112	110	111		592	5.1	1	7		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNA2D1	NM_000722.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	198/1092	81714151	1,13005	2203	4300	6503	81552087	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.592G>A	7.37:g.81714151C>T	ENSP00000348589:p.Glu198Lys		81552087	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	16.72	3.202063	0.58234	0.0	1.16E-4	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24538	3.2;3.19;1.85	5.96	5.06	0.68205	.	0.406926	0.28606	N	0.014760	T	0.23210	0.0561	L	0.43598	1.365	0.80722	D	1	B	0.14012	0.009	B	0.13407	0.009	T	0.05354	-1.0890	10	0.11794	T	0.64	-4.5946	16.6309	0.85032	0.0:0.8698:0.1302:0.0	.	198	P54289-2	.	K	198	ENSP00000349320:E198K;ENSP00000348589:E198K;ENSP00000405395:E198K	ENSP00000284088:E198K	E	-	1	0	CACNA2D1	81552087	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	4.776000	0.62354	1.471000	0.48121	0.650000	0.86243	GAG		0.383	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81714151	C	T	81714151	3	4	251	1	0	0	0	0	1	0	0	0	2548	893	31	1	2815	1	CACNA2D1	7	81714151	Missense_Mutation	SNP	C	TCGA-24-1564-01A-01W-0551-08		81714151	77424512	10	13913											
SLC26A3	1811	broad.mit.edu	37	7	107427810	107427810	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr7:107427810A>C	ENST00000340010.5	-	7	1064	c.880T>G	c.(880-882)Ttc>Gtc	p.F294V	SLC26A3_ENST00000422236.2_Missense_Mutation_p.F259V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	294					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.F294V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACCATAATGAATTCGATTGGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	7											170	162	165					7																	107427810		2203	4300	6503	107215046	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.880T>G	7.37:g.107427810A>C	ENSP00000345873:p.Phe294Val		107215046		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.324077	0.01309	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92348	-3.02;-3.02	5.4	2.0	0.26442	Sulphate transporter (1);	0.177387	0.49305	D	0.000143	T	0.71779	0.3380	N	0.00729	-1.24	0.25938	N	0.982901	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.65516	-0.6149	10	0.40728	T	0.16	.	5.378	0.16176	0.0898:0.1301:0.6468:0.1334	.	259;294	G5E9U3;P40879	.;S26A3_HUMAN	V	259;294	ENSP00000415817:F259V;ENSP00000345873:F294V	ENSP00000345873:F294V	F	-	1	0	SLC26A3	107215046	1.000000	0.71417	0.915000	0.36163	0.227000	0.25037	1.210000	0.32370	0.146000	0.19002	-0.250000	0.11733	TTC		0.383	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		C	107427810	A	C	107427810	3	2	251	1	0	0	0	0	1	0	0	0	14521	101	4	5	1474	5	SLC26A3	7	107427810	Missense_Mutation	SNP	A	TCGA-24-1564-01A-01W-0551-08	25713659	107427810	51710853	11	13914											
CNBD1	168975	broad.mit.edu	37	8	87899829	87899829	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr8:87899829G>C	ENST00000518476.1	+	2	199	c.148G>C	c.(148-150)Gga>Cga	p.G50R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	50								p.G50R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CCACATTAGAGGACAACACAG	0.289																																																1	Substitution - Missense(1)	ovary(1)	8											65	61	62					8																	87899829		1844	4087	5931	87968945	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.148G>C	8.37:g.87899829G>C	ENSP00000430073:p.Gly50Arg		87968945		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011782	0.35511	.	.	ENSG00000176571	ENST00000518476	T	0.58210	0.35	4.57	3.69	0.42338	.	0.390475	0.19758	N	0.106730	T	0.61627	0.2362	L	0.56769	1.78	0.22581	N	0.998969	D	0.63880	0.993	P	0.59546	0.859	T	0.53158	-0.8478	10	0.72032	D	0.01	.	9.0479	0.36358	0.1057:0.0:0.8943:0.0	.	50	Q8NA66	CNBD1_HUMAN	R	50	ENSP00000430073:G50R	ENSP00000430073:G50R	G	+	1	0	CNBD1	87968945	0.126000	0.22350	0.867000	0.34043	0.921000	0.55340	1.223000	0.32527	1.214000	0.43395	0.563000	0.77884	GGA		0.289	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		C	87899829	G	C	87899829	3	2	251	1	0	0	0	0	1	0	0	0	3591	1001	35	3	154	3	CNBD1	8	87899829	Missense_Mutation	SNP	G	TCGA-24-1564-01A-01W-0551-08		87899829	58464193	12	13915											
TLE1	7088	broad.mit.edu	37	9	84200491	84200491	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr9:84200491A>T	ENST00000376499.3	-	18	3121	c.2057T>A	c.(2056-2058)gTg>gAg	p.V686E		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	686					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)	p.V686E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						AGGCTTGTTCACGTGCAGCAC	0.572																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)											1	Substitution - Missense(1)	ovary(1)	9											103	76	85					9																	84200491		2203	4300	6503	83390311	SO:0001583	missense	7088				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.2057T>A	9.37:g.84200491A>T	ENSP00000365682:p.Val686Glu		83390311	A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	a	15.39	2.818798	0.50633	.	.	ENSG00000196781	ENST00000376499	T	0.12465	2.68	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	N	0.22421	0.69	0.80722	D	1	B;B	0.14012	0.009;0.007	B;B	0.13407	0.004;0.009	T	0.08046	-1.0741	10	0.39692	T	0.17	-16.7534	15.6027	0.76636	1.0:0.0:0.0:0.0	.	671;686	B4DEF9;Q04724	.;TLE1_HUMAN	E	686	ENSP00000365682:V686E	ENSP00000365682:V686E	V	-	2	0	TLE1	83390311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.073000	0.57570	2.085000	0.62840	0.533000	0.62120	GTG		0.572	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		T	84200491	A	T	84200491	3	4	251	1	0	0	0	0	1	0	0	0	15938	159	6	5	267	5	TLE1	9	84200491	Missense_Mutation	SNP	A	TCGA-24-1564-01A-01W-0551-08		84200491	57012940	13	13916											
NEBL	10529	broad.mit.edu	37	10	21101810	21101810	+	Silent	SNP	G	G	A			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr10:21101810G>A	ENST00000377122.4	-	24	2802	c.2406C>T	c.(2404-2406)gaC>gaT	p.D802D	NEBL_ENST00000377159.4_Silent_p.D105D|NEBL_ENST00000417816.2_Silent_p.D139D	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	802					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.D802D(2)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCACAGGATCGTCCACGACGG	0.468																																																2	Substitution - coding silent(2)	ovary(1)|prostate(1)	10											120	96	104					10																	21101810		2203	4300	6503	21141816	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2406C>T	10.37:g.21101810G>A			21141816	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																				0.468	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		A	21101810	G	A	21101810	2	1	251	1	0	0	0	0	0	0	0	1	10303	1136	40	1		1	NEBL	10	21101810	Silent	SNP	G	TCGA-24-1564-01A-01W-0551-08		21101810	114432937	14	13917											
KIAA0913	23053	broad.mit.edu	37	10	75560185	75560185	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr10:75560185G>A	ENST00000605216.1	+	23	5183	c.4966G>A	c.(4966-4968)Gtc>Atc	p.V1656I	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.V1661I|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.V1474I|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.V1653I|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.V1615I	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1656	Pro-rich.						zinc ion binding (GO:0008270)										CAGTCAGCCAGTCAATCCCCA	0.612																																																0			10											54	61	59					10																	75560185		2194	4288	6482	75230191	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4966G>A	10.37:g.75560185G>A	ENSP00000474748:p.Val1656Ile		75230191	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.	.	.	.	.	.	.	.	.	.	G	2.325	-0.354772	0.05138	.	.	ENSG00000214655	ENST00000398706	T	0.43294	0.95	6.06	6.06	0.98353	.	.	.	.	.	T	0.27313	0.0670	N	0.10972	0.075	0.34801	D	0.73673	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.001	B;B;B;B;B	0.14578	0.007;0.006;0.011;0.006;0.004	T	0.21177	-1.0253	9	0.08179	T	0.78	-6.5139	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1648;1656;1660;1648;1661	A7E2V4-2;A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.;K0913_HUMAN;.;.;.	I	1661	ENSP00000381693:V1661I	ENSP00000381693:V1661I	V	+	1	0	KIAA0913	75230191	1.000000	0.71417	0.921000	0.36526	0.186000	0.23388	7.208000	0.77907	2.882000	0.98803	0.655000	0.94253	GTC		0.612	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		A	75560185	G	A	75560185	3	1	251	1	0	0	0	0	1	0	0	0	8200	1029	36	2	5071	2	KIAA0913	10	75560185	Missense_Mutation	SNP	G	TCGA-24-1564-01A-01W-0551-08	54458375	75560185	59974562	15	13918											
ZDHHC16	84287	broad.mit.edu	37	10	99212186	99212186	+	Silent	SNP	C	C	T	rs199585228	byFrequency	TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr10:99212186C>T	ENST00000370854.3	+	4	642	c.453C>T	c.(451-453)atC>atT	p.I151I	ZDHHC16_ENST00000393760.1_Silent_p.I151I|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370842.2_Silent_p.I151I|ZDHHC16_ENST00000370846.4_Silent_p.I151I|ZDHHC16_ENST00000345745.5_Silent_p.I86I|ZDHHC16_ENST00000353979.3_Silent_p.I151I|ZDHHC16_ENST00000352634.4_Silent_p.I151I	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	151					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.I151I(1)		kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GGAATGATATCGCCACCGTCT	0.537													C|||	2	0.000399361	0	0.0029	5008	,	,		22062	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	10											133	121	125					10																	99212186		2203	4300	6503	99202176	SO:0001819	synonymous_variant	84287			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.453C>T	10.37:g.99212186C>T			99202176	D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Silent	SNP	ENST00000370854.3	37	CCDS7460.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.879	0.163320	0.09287	.	.	ENSG00000171307	ENST00000420089;ENST00000417044	.	.	.	5.95	-6.11	0.02131	.	.	.	.	.	T	0.53465	0.1798	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57318	-0.7832	4	.	.	.	-23.6247	11.3629	0.49655	0.0:0.2902:0.0873:0.6225	.	.	.	.	L	127;93	.	.	S	+	2	0	ZDHHC16	99202176	0.107000	0.21998	0.502000	0.27614	0.891000	0.51852	-0.541000	0.06099	-1.039000	0.03275	-0.254000	0.11334	TCG		0.537	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		T	99212186	C	T	99212186	2	4	251	1	0	0	0	0	0	0	0	1	17606	874	31	1		1	ZDHHC16	10	99212186	Silent	SNP	C	TCGA-24-1564-01A-01W-0551-08	23652001	99212186	36322561	16	13919											
OR52E2	119678	broad.mit.edu	37	11	5079964	5079964	+	Silent	SNP	C	C	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr11:5079964C>T	ENST00000321522.2	-	1	893	c.894G>A	c.(892-894)aaG>aaA	p.K298K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K298K(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TATAGATCTGCTTGGTTCTGA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	11											69	69	69					11																	5079964		2201	4298	6499	5036540	SO:0001819	synonymous_variant	119678			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.894G>A	11.37:g.5079964C>T			5036540		Silent	SNP	ENST00000321522.2	37	CCDS31371.1																																																																																				0.393	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		T	5079964	C	T	5079964	2	4	251	1	0	0	0	0	0	0	0	1	11115	796	28	2		2	OR52E2	11	5079964	Silent	SNP	C	TCGA-24-1564-01A-01W-0551-08		5079964	129926552	17	13920											
OR5L1	219437	broad.mit.edu	37	11	55579056	55579056	+	Silent	SNP	G	G	A	rs147224918		TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr11:55579056G>A	ENST00000333973.2	+	1	203	c.114G>A	c.(112-114)acG>acA	p.T38T		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATGGAGTCACGTTGTTAGCCA	0.502													N|||	1	0.000199681	8e-04	0	5008	,	,		18448	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	11						G		1,4399	2.1+/-5.4	0,1,2199	304	268	280		114	-8.6	0	11	dbSNP_134	280	4,8588	3.7+/-12.6	0,4,4292	no	coding-synonymous	OR5L1	NM_001004738.1		0,5,6491	AA,AG,GG		0.0466,0.0227,0.0385		38/312	55579056	5,12987	2200	4296	6496	55335632	SO:0001819	synonymous_variant	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.114G>A	11.37:g.55579056G>A			55335632	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																				0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		A	55579056	G	A	55579056	2	1	251	1	0	0	0	0	0	0	0	1	11170	1132	40	1		1	OR5L1	11	55579056	Silent	SNP	G	TCGA-24-1564-01A-01W-0551-08	50499092	55579056	79427460	18	13921											
FTH1	2495	broad.mit.edu	37	11	61732321	61732321	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr11:61732321T>C	ENST00000273550.7	-	4	664	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000532601.1_Missense_Mutation_p.K74E|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.K114E|FTH1_ENST00000529631.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	144	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)	p.K144E(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TTGATGGCTTTCACCTGCTCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											73	68	69					11																	61732321		1903	4121	6024	61488897	SO:0001583	missense	2495				CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15"	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.430A>G	11.37:g.61732321T>C	ENSP00000273550:p.Lys144Glu		61488897	B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.177406	0.38413	.	.	ENSG00000167996	ENST00000273550;ENST00000406545;ENST00000526640;ENST00000532601	T;T;T	0.60797	0.16;0.16;0.16	5.13	4.0	0.46444	Ferritin/ribonucleotide reductase-like (1);Ferritin, conserved site (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.141711	0.64402	N	0.000005	T	0.28599	0.0708	N	0.02142	-0.665	0.54753	D	0.999984	B	0.09022	0.002	B	0.13407	0.009	T	0.04976	-1.0914	10	0.21014	T	0.42	.	10.7964	0.46464	0.0:0.0758:0.0:0.9242	.	144	P02794	FRIH_HUMAN	E	144;193;114;74	ENSP00000273550:K144E;ENSP00000433321:K114E;ENSP00000435111:K74E	ENSP00000273550:K144E	K	-	1	0	FTH1	61488897	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	4.197000	0.58413	0.913000	0.36797	0.456000	0.33151	AAA		0.498	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		C	61732321	T	C	61732321	3	2	251	1	0	0	0	0	1	0	0	0	6082	1792	62	4	125	4	FTH1	11	61732321	Missense_Mutation	SNP	T	TCGA-24-1564-01A-01W-0551-08	6153265	61732321	73274195	19	13922											
SLC4A8	9498	broad.mit.edu	37	12	51857482	51857482	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr12:51857482C>G	ENST00000453097.2	+	11	1550	c.1333C>G	c.(1333-1335)Ctt>Gtt	p.L445V	SLC4A8_ENST00000514353.3_Missense_Mutation_p.L392V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.L472V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.L392V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.L392V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.L445V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGGCCAGAACTTCAGCGCAC	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											98	99	99					12																	51857482		2203	4300	6503	50143749	SO:0001583	missense	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1333C>G	12.37:g.51857482C>G	ENSP00000405812:p.Leu445Val		50143749		Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827279	0.90955	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.42	5.42	0.78866	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	H	0.95950	3.745	0.80722	D	1	D;P;D;D;P;D	0.76494	0.999;0.917;0.982;0.994;0.817;0.957	D;P;P;D;P;D	0.80764	0.994;0.668;0.839;0.955;0.879;0.926	D	0.96875	0.9642	10	0.87932	D	0	.	18.3904	0.90481	0.0:1.0:0.0:0.0	.	392;472;392;445;445;445	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	V	392;472;445;392;445;392;392	ENSP00000441520:L392V;ENSP00000351483:L472V;ENSP00000405812:L445V;ENSP00000378325:L392V;ENSP00000442561:L392V	ENSP00000315789:L445V	L	+	1	0	SLC4A8	50143749	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.880000	0.63107	2.725000	0.93324	0.655000	0.94253	CTT		0.478	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		G	51857482	C	G	51857482	3	3	251	1	0	0	0	0	1	0	0	0	14662	565	20	3	1375	3	SLC4A8	12	51857482	Missense_Mutation	SNP	C	TCGA-24-1564-01A-01W-0551-08		51857482	81994413	20	13923											
NBEA	26960	broad.mit.edu	37	13	35685048	35685048	+	Silent	SNP	C	C	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr13:35685048C>T	ENST00000400445.3	+	13	2469	c.1935C>T	c.(1933-1935)caC>caT	p.H645H	NBEA_ENST00000540320.1_Silent_p.H645H|NBEA_ENST00000379939.2_Silent_p.H645H|NBEA_ENST00000310336.4_Silent_p.H645H	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	645					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.H645H(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGCTAATGCACACCTTAAAAT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	13											81	78	79					13																	35685048		1880	4103	5983	34583048	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1935C>T	13.37:g.35685048C>T			34583048	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.378	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	35685048	C	T	35685048	2	4	251	1	0	0	0	0	0	0	0	1	10187	477	17	2		2	NBEA	13	35685048	Silent	SNP	C	TCGA-24-1564-01A-01W-0551-08		35685048	79484830	21	13924											
ANKS4B	257629	broad.mit.edu	37	16	21261206	21261206	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr16:21261206A>T	ENST00000311620.5	+	2	392	c.319A>T	c.(319-321)Agc>Tgc	p.S107C		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	107					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.S107C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGCTGCTGCCAGCAGGGAGCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	16											73	72	72					16																	21261206		2082	4224	6306	21168707	SO:0001583	missense	257629			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.319A>T	16.37:g.21261206A>T	ENSP00000308772:p.Ser107Cys		21168707		Missense_Mutation	SNP	ENST00000311620.5	37	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731612	0.69189	.	.	ENSG00000175311	ENST00000311620	T	0.66280	-0.2	5.81	5.81	0.92471	Ankyrin repeat-containing domain (4);	0.097774	0.64402	D	0.000001	T	0.71500	0.3347	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70182	-0.4942	10	0.37606	T	0.19	-19.2859	15.3251	0.74154	1.0:0.0:0.0:0.0	.	107	Q8N8V4	ANS4B_HUMAN	C	107	ENSP00000308772:S107C	ENSP00000308772:S107C	S	+	1	0	ANKS4B	21168707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.594000	0.61041	2.212000	0.71576	0.482000	0.46254	AGC		0.537	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		T	21261206	A	T	21261206	3	4	251	1	0	0	0	0	1	0	0	0	691	188	7	5	325	5	ANKS4B	16	21261206	Missense_Mutation	SNP	A	TCGA-24-1564-01A-01W-0551-08		21261206	69093547	22	13925											
ZNF267	10308	broad.mit.edu	37	16	31927489	31927489	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr16:31927489C>T	ENST00000300870.10	+	4	2128	c.1919C>T	c.(1918-1920)gCc>gTc	p.A640V		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	640					multicellular organismal development (GO:0007275)|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.A640V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TGTGGCAAAGCCTTCAACTAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	16											75	76	76					16																	31927489		2197	4300	6497	31834990	SO:0001583	missense	10308			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1919C>T	16.37:g.31927489C>T	ENSP00000300870:p.Ala640Val		31834990	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.880046	0.33162	.	.	ENSG00000185947	ENST00000300870	T	0.36340	1.26	0.468	-0.935	0.10423	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18718	0.0449	L	0.37750	1.13	0.18873	N	0.999985	P	0.41008	0.735	B	0.29862	0.108	T	0.11179	-1.0598	9	0.49607	T	0.09	.	2.3985	0.04395	0.3218:0.3555:0.3226:0.0	.	640	Q14586	ZN267_HUMAN	V	640	ENSP00000300870:A640V	ENSP00000300870:A640V	A	+	2	0	ZNF267	31834990	0.000000	0.05858	0.468000	0.27192	0.445000	0.32107	-0.706000	0.05047	-0.489000	0.06716	-0.500000	0.04577	GCC		0.418	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		T	31927489	C	T	31927489	3	4	251	1	0	0	0	0	1	0	0	0	17806	739	26	2	1933	2	ZNF267	16	31927489	Missense_Mutation	SNP	C	TCGA-24-1564-01A-01W-0551-08	10666283	31927489	58427264	23	13926											
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	17											48	46	47					17																	7578370		2203	4300	6503	7519095	SO:0001630	splice_region_variant	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.559+1G>T	17.37:g.7578370C>A			7519095	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578370	C	A	7578370	5	1	251	1	0	0	0	0	0	0	1	0	16381	521	18	3	738	3	TP53	17	7578370	Splice_Site	SNP	C	TCGA-24-1564-01A-01W-0551-08		7578370	73616840	24	13927											
AP2B1	163	broad.mit.edu	37	17	33977562	33977562	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr17:33977562C>G	ENST00000262325.7	+	13	2103	c.1550C>G	c.(1549-1551)cCt>cGt	p.P517R	AP2B1_ENST00000537622.2_Missense_Mutation_p.P517R|AP2B1_ENST00000312678.8_Missense_Mutation_p.P517R|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.P479R|AP2B1_ENST00000538556.1_Missense_Mutation_p.P460R|AP2B1_ENST00000589344.1_Missense_Mutation_p.P517R	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	517					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)	p.P517R(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCTGATAATCCTGACCTTCGA	0.443																																																1	Substitution - Missense(1)	ovary(1)	17											133	131	132					17																	33977562		2203	4300	6503	31001675	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1550C>G	17.37:g.33977562C>G	ENSP00000262325:p.Pro517Arg		31001675	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702463	0.88924	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.73	5.73	0.89815	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73616	-0.3926	10	0.87932	D	0	-10.3645	18.8762	0.92337	0.0:1.0:0.0:0.0	.	254;479;517;517	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	R	517;517;460;517;254	ENSP00000262325:P517R;ENSP00000314414:P517R;ENSP00000440563:P460R;ENSP00000437413:P517R	ENSP00000262325:P517R	P	+	2	0	AP2B1	31001675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.720000	0.93068	0.591000	0.81541	CCT		0.443	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			G	33977562	C	G	33977562	3	3	251	1	0	0	0	0	1	0	0	0	741	681	24	3	1596	3	AP2B1	17	33977562	Missense_Mutation	SNP	C	TCGA-24-1564-01A-01W-0551-08	26399192	33977562	47217648	25	13928											
INSR	3643	broad.mit.edu	37	19	7152753	7152753	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr19:7152753C>G	ENST00000302850.5	-	10	2357	c.2215G>C	c.(2215-2217)Gtg>Ctg	p.V739L	INSR_ENST00000341500.5_Missense_Mutation_p.V739L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	739	Insulin-binding.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.V739L(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ACGAAAACCACGTTGTGCAGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	19											193	172	179					19																	7152753		2203	4300	6503	7103753	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2215G>C	19.37:g.7152753C>G	ENSP00000303830:p.Val739Leu		7103753	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388181	0.42308	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.70631	-0.5;-0.5	5.57	5.57	0.84162	Fibronectin, type III (2);	0.168108	0.26907	N	0.021893	T	0.64011	0.2560	L	0.38175	1.15	0.33959	D	0.645338	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.17098	0.002;0.017;0.002	T	0.66999	-0.5781	10	0.40728	T	0.16	.	17.0456	0.86501	0.0:1.0:0.0:0.0	.	730;739;739	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	L	739	ENSP00000303830:V739L;ENSP00000342838:V739L	ENSP00000303830:V739L	V	-	1	0	INSR	7103753	1.000000	0.71417	0.963000	0.40424	0.775000	0.43874	5.576000	0.67437	2.629000	0.89072	0.603000	0.83216	GTG		0.547	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			G	7152753	C	G	7152753	3	3	251	1	0	0	0	0	1	0	0	0	7773	536	19	3	1985	3	INSR	19	7152753	Missense_Mutation	SNP	C	TCGA-24-1564-01A-01W-0551-08		7152753	51976230	26	13929											
CD97	976	broad.mit.edu	37	19	14513441	14513441	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr19:14513441A>G	ENST00000242786.5	+	12	1296	c.1216A>G	c.(1216-1218)Aac>Gac	p.N406D	CD97_ENST00000357355.3_Missense_Mutation_p.N357D|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.N313D	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	406					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.N406D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCCATCCAGAACATGACGAC	0.572																																																1	Substitution - Missense(1)	ovary(1)	19											112	104	106					19																	14513441		2203	4300	6503	14374441	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1216A>G	19.37:g.14513441A>G	ENSP00000242786:p.Asn406Asp		14374441	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.489215	0.44249	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.70986	-0.53;-0.46;-0.08	5.12	-2.84	0.05751	.	.	.	.	.	T	0.69637	0.3133	M	0.72118	2.19	0.09310	N	1	P;P;B	0.50443	0.935;0.935;0.024	P;P;B	0.54889	0.763;0.763;0.024	T	0.58885	-0.7557	9	0.25751	T	0.34	.	1.095	0.01671	0.2945:0.2948:0.2671:0.1436	.	313;357;406	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	D	406;357;313;356	ENSP00000242786:N406D;ENSP00000349918:N357D;ENSP00000351413:N313D	ENSP00000242786:N406D	N	+	1	0	CD97	14374441	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.112000	0.15479	-0.301000	0.08882	0.374000	0.22700	AAC		0.572	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		G	14513441	A	G	14513441	3	3	251	1	0	0	0	0	1	0	0	0	3049	246	9	4	1262	4	CD97	19	14513441	Missense_Mutation	SNP	A	TCGA-24-1564-01A-01W-0551-08	7360688	14513441	44615542	27	13930											
NLRP2	55655	broad.mit.edu	37	19	55512226	55512226	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr19:55512226C>A	ENST00000543010.1	+	13	3292	c.3149C>A	c.(3148-3150)cCc>cAc	p.P1050H	NLRP2_ENST00000448584.2_Missense_Mutation_p.P1050H|NLRP2_ENST00000391721.4_Missense_Mutation_p.P1026H|NLRP2_ENST00000263437.6_Missense_Mutation_p.P1047H|NLRP2_ENST00000538819.1_Missense_Mutation_p.P1026H|NLRP2_ENST00000537859.1_Missense_Mutation_p.P1028H|NLRP2_ENST00000427260.2_Missense_Mutation_p.P1027H|NLRP2_ENST00000339757.7_Missense_Mutation_p.P1028H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1050					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.P1050H(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAACATCATCCCTGGGCAGAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	19											116	107	110					19																	55512226		2203	4300	6503	60204038	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.3149C>A	19.37:g.55512226C>A	ENSP00000445135:p.Pro1050His		60204038	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750595	0.31046	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75589	-0.91;-0.83;-0.83;-0.91;-0.83;-0.95;-0.83;-0.94	2.98	1.93	0.25924	.	.	.	.	.	T	0.77857	0.4193	L	0.46157	1.445	0.09310	N	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998	P;D;D;D;P	0.66979	0.888;0.948;0.936;0.948;0.888	T	0.63646	-0.6590	9	0.66056	D	0.02	.	6.0452	0.19755	0.0:0.8548:0.0:0.1452	.	1027;1028;1047;1026;1050	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	H	1050;1026;1028;1050;1028;1027;1026;1047	ENSP00000445135:P1050H;ENSP00000375601:P1026H;ENSP00000344074:P1028H;ENSP00000409370:P1050H;ENSP00000440601:P1028H;ENSP00000402474:P1027H;ENSP00000441133:P1026H;ENSP00000263437:P1047H	ENSP00000263437:P1047H	P	+	2	0	NLRP2	60204038	0.006000	0.16342	0.002000	0.10522	0.007000	0.05969	1.862000	0.39448	0.819000	0.34492	0.556000	0.70494	CCC		0.408	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55512226	C	A	55512226	3	1	251	1	0	0	0	0	1	0	0	0	10477	623	22	3	3195	3	NLRP2	19	55512226	Missense_Mutation	SNP	C	TCGA-24-1564-01A-01W-0551-08	40998785	55512226	3616757	28	13931											
TMPRSS15	5651	broad.mit.edu	37	21	19685263	19685263	+	Splice_Site	SNP	C	C	A			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr21:19685263C>A	ENST00000284885.3	-	18	2197	c.2164G>T	c.(2164-2166)Ggg>Tgg	p.G722W		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	722	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.G722W(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATTACTTACCCTAGTCCCAGC	0.353																																																1	Substitution - Missense(1)	ovary(1)	21											98	96	97					21																	19685263		2203	4300	6503	18607134	SO:0001630	splice_region_variant	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2165+1G>T	21.37:g.19685263C>A			18607134	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845140	0.71603	.	.	ENSG00000154646	ENST00000284885	T	0.38887	1.11	5.53	5.53	0.82687	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.128900	0.52532	D	0.000061	T	0.64483	0.2602	M	0.69823	2.125	0.50313	D	0.999862	D	0.89917	1.0	D	0.97110	1.0	T	0.63528	-0.6617	9	.	.	.	.	16.9598	0.86269	0.0:1.0:0.0:0.0	.	722	P98073	ENTK_HUMAN	W	722	ENSP00000284885:G722W	.	G	-	1	0	TMPRSS15	18607134	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	4.524000	0.60552	2.607000	0.88179	0.655000	0.94253	GGG		0.353	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	Missense_Mutation	A	19685263	C	A	19685263	5	1	251	1	0	0	0	0	0	0	1	0	16246	695	24	3	927	3	TMPRSS15	21	19685263	Splice_Site	SNP	C	TCGA-24-1564-01A-01W-0551-08		19685263	28444632	29	13932											
SYNJ1	8867	broad.mit.edu	37	21	34072358	34072358	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr21:34072358A>G	ENST00000322229.7	-	3	268	c.269T>C	c.(268-270)aTt>aCt	p.I90T	SYNJ1_ENST00000357345.3_Missense_Mutation_p.I90T|SYNJ1_ENST00000382491.3_Missense_Mutation_p.I90T|SYNJ1_ENST00000382499.2_Missense_Mutation_p.I129T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.I129T			O43426	SYNJ1_HUMAN	synaptojanin 1	90					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.I90T(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGATTCTTGAATTTTTCCAAC	0.378																																																1	Substitution - Missense(1)	ovary(1)	21											66	69	68					21																	34072358		2203	4300	6503	32994229	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.269T>C	21.37:g.34072358A>G	ENSP00000322234:p.Ile90Thr		32994229	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.749266	0.89753	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.6	5.6	0.85130	Synaptojanin, N-terminal (1);	0.047266	0.85682	D	0.000000	T	0.78426	0.4281	M	0.87180	2.865	0.80722	D	1	D;D;P;D;P	0.63880	0.963;0.98;0.915;0.993;0.902	P;P;P;D;B	0.66497	0.87;0.876;0.702;0.944;0.311	T	0.82833	-0.0262	10	0.87932	D	0	.	15.7902	0.78350	1.0:0.0:0.0:0.0	.	90;129;90;90;90	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	T	90;90;129;129;90;90;90	ENSP00000371931:I90T;ENSP00000349903:I90T;ENSP00000371939:I129T;ENSP00000409667:I129T;ENSP00000322234:I90T;ENSP00000413649:I90T;ENSP00000412707:I90T	ENSP00000322234:I90T	I	-	2	0	SYNJ1	32994229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.823000	0.92018	2.138000	0.66242	0.477000	0.44152	ATT		0.378	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				G	34072358	A	G	34072358	3	3	251	1	0	0	0	0	1	0	0	0	15452	101	4	4	4602	4	SYNJ1	21	34072358	Missense_Mutation	SNP	A	TCGA-24-1564-01A-01W-0551-08	14387095	34072358	14057537	30	13933											
BACE2	25825	broad.mit.edu	37	21	42609500	42609500	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chr21:42609500G>T	ENST00000330333.6	+	3	925	c.462G>T	c.(460-462)tgG>tgT	p.W154C	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.W154C|BACE2_ENST00000347667.5_Missense_Mutation_p.W154C	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	154					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)	p.W154C(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AAGGAAGCTGGACGGGCTTCG	0.418																																																1	Substitution - Missense(1)	ovary(1)	21											85	68	74					21																	42609500		2203	4300	6503	41531370	SO:0001583	missense	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.462G>T	21.37:g.42609500G>T	ENSP00000332979:p.Trp154Cys		41531370	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610276	0.87258	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.56941	0.43;0.43;0.43	5.85	5.85	0.93711	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.931;0.999;1.0	T	0.76561	-0.2914	10	0.72032	D	0.01	.	19.1545	0.93504	0.0:0.0:1.0:0.0	.	154;154;154	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	C	154;154;154;59	ENSP00000332979:W154C;ENSP00000327528:W154C;ENSP00000333854:W154C	ENSP00000333854:W154C	W	+	3	0	BACE2	41531370	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.866000	0.92307	2.773000	0.95371	0.585000	0.79938	TGG		0.418	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			T	42609500	G	T	42609500	3	4	251	1	0	0	0	0	1	0	0	0	1282	1183	41	3	472	3	BACE2	21	42609500	Missense_Mutation	SNP	G	TCGA-24-1564-01A-01W-0551-08	8537142	42609500	5520395	31	13934											
ACE2	59272	broad.mit.edu	37	X	15593882	15593882	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chrX:15593882A>G	ENST00000252519.3	-	10	1451	c.1349T>C	c.(1348-1350)cTg>cCg	p.L450P	ACE2_ENST00000427411.1_Missense_Mutation_p.L450P			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	450					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.L450P(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AGTAAATGGCAGAGTCCCAAC	0.393																																																1	Substitution - Missense(1)	ovary(1)	X											166	138	148					X																	15593882		2203	4300	6503	15503803	SO:0001583	missense	59272			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1349T>C	X.37:g.15593882A>G	ENSP00000252519:p.Leu450Pro		15503803	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098694	0.76870	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.41400	1.0;1.0	5.83	5.83	0.93111	.	0.158989	0.45606	D	0.000342	T	0.77164	0.4090	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85714	0.1321	10	0.87932	D	0	-12.7199	15.1031	0.72299	1.0:0.0:0.0:0.0	.	450	Q9BYF1	ACE2_HUMAN	P	450	ENSP00000252519:L450P;ENSP00000389326:L450P	ENSP00000252519:L450P	L	-	2	0	ACE2	15503803	1.000000	0.71417	0.530000	0.27963	0.886000	0.51366	9.339000	0.96797	1.949000	0.56562	0.486000	0.48141	CTG		0.393	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			G	15593882	A	G	15593882	3	3	251	1	0	0	0	0	1	0	0	0	137	188	7	4	1104	4	ACE2	23	15593882	Missense_Mutation	SNP	A	TCGA-24-1564-01A-01W-0551-08		15593882	139676678	32	13935											
HEPH	9843	broad.mit.edu	37	X	65390482	65390482	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chrX:65390482G>T	ENST00000343002.2	+	1	734	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	HEPH_ENST00000374727.3_Missense_Mutation_p.A27S|HEPH_ENST00000519389.1_Missense_Mutation_p.A78S|HEPH_ENST00000441993.2_Missense_Mutation_p.A27S|HEPH_ENST00000419594.1_Missense_Mutation_p.A27S|HEPH_ENST00000336279.5_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	24	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.A24S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACTGATGGAGCCACTCGAGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											84	60	68					X																	65390482		2203	4300	6503	65307207	SO:0001583	missense	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.70G>T	X.37:g.65390482G>T	ENSP00000343939:p.Ala24Ser		65307207	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	G	7.726	0.698137	0.15106	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24;-5.24;-5.24;-5.24	5.01	3.25	0.37280	Cupredoxin (2);	0.402799	0.24258	N	0.040115	D	0.95341	0.8488	L	0.38838	1.175	0.09310	N	0.999997	B;B;B	0.26935	0.003;0.164;0.003	B;B;B	0.19946	0.007;0.027;0.007	D	0.88022	0.2769	10	0.19590	T	0.45	.	8.3703	0.32410	0.1723:0.0:0.8277:0.0	.	78;27;24	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	S	78;27;24;27;27;24;24	ENSP00000430620:A78S;ENSP00000363859:A27S;ENSP00000396907:A24S;ENSP00000411687:A27S;ENSP00000413211:A27S;ENSP00000343939:A24S;ENSP00000398078:A24S	ENSP00000343939:A24S	A	+	1	0	HEPH	65307207	0.977000	0.34250	0.303000	0.25071	0.490000	0.33462	1.283000	0.33237	0.526000	0.28541	-0.503000	0.04515	GCC		0.537	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65390482	G	T	65390482	3	4	251	1	0	0	0	0	1	0	0	0	7054	971	34	3	238	3	HEPH	23	65390482	Missense_Mutation	SNP	G	TCGA-24-1564-01A-01W-0551-08	49796600	65390482	89880078	33	13936											
KIAA1210	57481	broad.mit.edu	37	X	118250616	118250616	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1564-01A-01W-0551-08	TCGA-24-1564-10A-01W-0551-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	efa57aa0-aa13-4785-a7e3-497151ea1c8b	6788c853-bc46-46fb-864b-cd1ce6541036	g.chrX:118250616A>C	ENST00000402510.2	-	4	492	c.493T>G	c.(493-495)Tgc>Ggc	p.C165G		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	165								p.C25G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTAAATTTGCATTTCTTCTTT	0.413																																																1	Substitution - Missense(1)	ovary(1)	X											77	63	67					X																	118250616		1854	4075	5929	118134644	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.493T>G	X.37:g.118250616A>C	ENSP00000384670:p.Cys165Gly		118134644	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	A	2.480	-0.319990	0.05386	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10005	2.92	5.14	5.14	0.70334	.	.	.	.	.	T	0.06872	0.0175	N	0.08118	0	0.26408	N	0.97632	B	0.09022	0.002	B	0.11329	0.006	T	0.23013	-1.0200	9	0.87932	D	0	.	10.561	0.45146	1.0:0.0:0.0:0.0	.	165	Q9ULL0	K1210_HUMAN	G	165;1	ENSP00000384670:C165G	ENSP00000396164:C1G	C	-	1	0	RP13-347D8.5;RP13-347D8.6	118134644	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	4.815000	0.62634	1.832000	0.53329	0.486000	0.48141	TGC		0.413	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		C	118250616	A	C	118250616	3	2	251	1	0	0	0	0	1	0	0	0	8214	217	8	5	4680	5	KIAA1210	23	118250616	Missense_Mutation	SNP	A	TCGA-24-1564-01A-01W-0551-08	52860134	118250616	37019944	34	13937											
PEAR1	375033	broad.mit.edu	37	1	156874645	156874645	+	Splice_Site	SNP	G	G	A	rs373109940		TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr1:156874645G>A	ENST00000338302.3	+	4	431		c.e4+1		PEAR1_ENST00000292357.7_Splice_Site			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1						recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGCCCACGTGAGTGCTCC	0.652																																																1	Unknown(1)	ovary(1)	1											30	34	33					1																	156874645		2203	4300	6503	155141269	SO:0001630	splice_region_variant	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.206+1G>A	1.37:g.156874645G>A			155141269	Q8TEK2	Splice_Site	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818621	0.71028	.	.	ENSG00000187800	ENST00000338302;ENST00000455314;ENST00000292357	.	.	.	3.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1372	0.48381	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PEAR1	155141269	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.509000	0.60448	2.065000	0.61736	0.561000	0.74099	.		0.652	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471	Intron	A	156874645	G	A	156874645	5	1	252	1	0	0	0	0	0	0	1	0	11712	1159	40	1	213	1	PEAR1	1	156874645	Splice_Site	SNP	G	TCGA-24-1565-01A-01W-0551-08		156874645	92375976	1	13938											
CHML	1122	broad.mit.edu	37	1	241798262	241798262	+	Silent	SNP	C	C	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr1:241798262C>A	ENST00000366553.1	-	1	970	c.807G>T	c.(805-807)cgG>cgT	p.R269R	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	269					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.R269R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCTTTCCTTCCCGAAATGCAA	0.353																																																1	Substitution - coding silent(1)	ovary(1)	1											50	49	49					1																	241798262		2203	4299	6502	239864885	SO:0001819	synonymous_variant	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.807G>T	1.37:g.241798262C>A			239864885	B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	ENST00000366553.1	37	CCDS31073.1																																																																																				0.353	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		A	241798262	C	A	241798262	2	1	252	1	0	0	0	0	0	0	0	1	3351	610	22	3		3	CHML	1	241798262	Silent	SNP	C	TCGA-24-1565-01A-01W-0551-08	84923617	241798262	7452359	2	13939											
CD207	50489	broad.mit.edu	37	2	71062877	71062877	+	Silent	SNP	C	C	T	rs575060537		TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr2:71062877C>T	ENST00000410009.3	-	1	75	c.30G>A	c.(28-30)gcG>gcA	p.A10A		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	10					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.A10A(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CAGTGAAGTGCGCATCAGGGG	0.567													C|||	1	0.000199681	0	0	5008	,	,		18673	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	2											102	109	106					2																	71062877		2110	4247	6357	70916385	SO:0001819	synonymous_variant	50489			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.30G>A	2.37:g.71062877C>T			70916385		Silent	SNP	ENST00000410009.3	37																																																																																					0.567	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		T	71062877	C	T	71062877	2	4	252	1	0	0	0	0	0	0	0	1	2983	755	27	1		1	CD207	2	71062877	Silent	SNP	C	TCGA-24-1565-01A-01W-0551-08		71062877	172136496	3	13940											
NRP2	8828	broad.mit.edu	37	2	206592644	206592644	+	Silent	SNP	G	G	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr2:206592644G>A	ENST00000357785.5	+	7	1051	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000360409.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T340T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCATGCTCACGGCCATCGCAA	0.502																																																1	Substitution - coding silent(1)	ovary(1)	2											95	79	84					2																	206592644		2203	4300	6503	206300889	SO:0001819	synonymous_variant	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1020G>A	2.37:g.206592644G>A			206300889	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	CCDS46496.1																																																																																				0.502	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			A	206592644	G	A	206592644	2	1	252	1	0	0	0	0	0	0	0	1	10661	1103	39	1		1	NRP2	2	206592644	Silent	SNP	G	TCGA-24-1565-01A-01W-0551-08	135529767	206592644	36606729	4	13941											
PTPRG	5793	broad.mit.edu	37	3	62189578	62189578	+	Silent	SNP	C	C	T	rs371158794		TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr3:62189578C>T	ENST00000474889.1	+	12	2486	c.2109C>T	c.(2107-2109)cgC>cgT	p.R703R	PTPRG_ENST00000295874.10_Silent_p.R703R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	703					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R703R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTATGTCCCGCGGGGACCGAT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	3																																								62164618	SO:0001819	synonymous_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2109C>T	3.37:g.62189578C>T			62164618	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	CCDS2895.1																																																																																				0.542	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		T	62189578	C	T	62189578	2	4	252	1	0	0	0	0	0	0	0	1	12805	755	27	1		1	PTPRG	3	62189578	Silent	SNP	C	TCGA-24-1565-01A-01W-0551-08		62189578	135832852	5	13942											
CCRN4L	25819	broad.mit.edu	37	4	139964380	139964380	+	Silent	SNP	A	A	C			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr4:139964380A>C	ENST00000280614.2	+	2	536	c.343A>C	c.(343-345)Agg>Cgg	p.R115R	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	115					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R115R(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TGAGGAATGCAGGGCCGTCCT	0.557																																					Ovarian(144;566 1842 19130 21379 22209)											1	Substitution - coding silent(1)	ovary(1)	4											89	87	88					4																	139964380		2203	4300	6503	140183830	SO:0001819	synonymous_variant	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.343A>C	4.37:g.139964380A>C			140183830	D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Silent	SNP	ENST00000280614.2	37	CCDS3743.1																																																																																				0.557	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		C	139964380	A	C	139964380	2	2	252	1	0	0	0	0	0	0	0	1	2951	179	7	5		5	CCRN4L	4	139964380	Silent	SNP	A	TCGA-24-1565-01A-01W-0551-08		139964380	51189896	6	13943											
FBXW7	55294	broad.mit.edu	37	4	153244205	153244205	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr4:153244205A>T	ENST00000281708.4	-	12	3181	c.1952T>A	c.(1951-1953)tTg>tAg	p.L651*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.L533*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.L571*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.L651*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.L475*|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.L651*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	651					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.L571*(1)|p.L651*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACCCGTTTTCAAGTCCCATAG	0.463			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	3	Substitution - Nonsense(2)|Unknown(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	4											152	148	149					4																	153244205		2203	4300	6503	153463655	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1952T>A	4.37:g.153244205A>T	ENSP00000281708:p.Leu651*		153463655	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617713	0.87359	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	4.47	0.54385	.	0.063358	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5533	12.8432	0.57815	0.8635:0.1365:0.0:0.0	.	.	.	.	X	651;533;571;475	.	ENSP00000263981:L571X	L	-	2	0	FBXW7	153463655	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.270000	0.95690	0.959000	0.37980	0.533000	0.62120	TTG		0.463	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			T	153244205	A	T	153244205	4	4	252	1	0	0	0	0	0	1	0	0	5769	131	5	5	175	5	FBXW7	4	153244205	Nonsense_Mutation	SNP	A	TCGA-24-1565-01A-01W-0551-08	13279825	153244205	37910071	7	13944											
GRIA2	2891	broad.mit.edu	37	4	158257676	158257682	+	Frame_Shift_Del	DEL	CCTTTAG	CCTTTAG	-			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	CCTTTAG	CCTTTAG	-	-	CCTTTAG	CCTTTAG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr4:158257676_158257682delCCTTTAG	ENST00000264426.9	+	11	1900_1906	c.1621_1627delCCTTTAG	c.(1621-1629)cctttagccfs	p.PLA541fs	GRIA2_ENST00000393815.2_Frame_Shift_Del_p.PLA494fs|GRIA2_ENST00000296526.7_Frame_Shift_Del_p.PLA541fs|GRIA2_ENST00000507898.1_Frame_Shift_Del_p.PLA494fs|GRIA2_ENST00000449365.1_Frame_Shift_Del_p.PLA494fs	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	541					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.L542fs*16(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTTTCTTGATCCTTTAGCCTATGAGAT	0.454																																																1	Deletion - Frameshift(1)	ovary(1)	4																																								158477132	SO:0001589	frameshift_variant	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1621_1627delCCTTTAG	4.37:g.158257676_158257682delCCTTTAG	ENSP00000264426:p.Pro541fs		158477126	A8MT92|I6L997|Q96FP6	Frame_Shift_Del	DEL	ENST00000264426.9	37	CCDS43274.1																																																																																				0.454	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			-	158257682	CCTTTAG	-	158257676	7	5	252	1	0	1	0	1	0	0	0	0	6768	855	30	0	1663	0	GRIA2	4	158257676	Frame_Shift_Del	DEL	CCTTTAG	TCGA-24-1565-01A-01W-0551-08	5013471	158257676	32896600	8	13945											
ODZ3	55714	broad.mit.edu	37	4	183714082	183714082	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr4:183714082G>A	ENST00000511685.1	+	26	6380	c.6257G>A	c.(6256-6258)cGt>cAt	p.R2086H	TENM3_ENST00000406950.2_Missense_Mutation_p.R2086H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2086					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCTCATGGCCGTATCAAGGAG	0.368																																																0			4											44	43	43					4																	183714082		1873	4106	5979	183951076	SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6257G>A	4.37:g.183714082G>A	ENSP00000424226:p.Arg2086His		183951076	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000821	0.74818	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.88124	-2.34;-2.34	4.89	4.89	0.63831	.	.	.	.	.	D	0.93602	0.7957	M	0.80028	2.48	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.94380	0.7604	9	0.87932	D	0	.	18.2684	0.90060	0.0:0.0:1.0:0.0	.	2086	Q9P273	TEN3_HUMAN	H	2086	ENSP00000424226:R2086H;ENSP00000385276:R2086H	ENSP00000385276:R2086H	R	+	2	0	ODZ3	183951076	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.623000	0.98386	2.534000	0.85438	0.563000	0.77884	CGT		0.368	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183714082	G	A	183714082	3	1	252	1	0	0	0	0	1	0	0	0	10836	1145	40	1	6355	1	ODZ3	4	183714082	Missense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08	25456406	183714082	7440194	9	13946											
ISL1	3670	broad.mit.edu	37	5	50685761	50685761	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr5:50685761A>G	ENST00000230658.7	+	4	1345	c.760A>G	c.(760-762)Aaa>Gaa	p.K254E	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.K254E	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	254	Gln-rich.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.K254E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCCCAATGACAAAACTGTGAG	0.577																																																1	Substitution - Missense(1)	ovary(1)	5											37	45	42					5																	50685761		2177	4287	6464	50721518	SO:0001583	missense	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.760A>G	5.37:g.50685761A>G	ENSP00000230658:p.Lys254Glu		50721518	P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.155423	0.38021	.	.	ENSG00000016082	ENST00000230658;ENST00000511384	D;D	0.85171	-1.95;-1.85	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	M	0.78801	2.425	0.58432	D	0.999999	B	0.17268	0.021	B	0.17979	0.02	T	0.81573	-0.0871	10	0.29301	T	0.29	.	15.8464	0.78895	1.0:0.0:0.0:0.0	.	254	P61371	ISL1_HUMAN	E	254	ENSP00000230658:K254E;ENSP00000422676:K254E	ENSP00000230658:K254E	K	+	1	0	ISL1	50721518	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	9.226000	0.95229	2.128000	0.65567	0.528000	0.53228	AAA		0.577	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		G	50685761	A	G	50685761	3	3	252	1	0	0	0	0	1	0	0	0	7856	131	5	4	774	4	ISL1	5	50685761	Missense_Mutation	SNP	A	TCGA-24-1565-01A-01W-0551-08		50685761	130229499	10	13947											
PITX1	5307	broad.mit.edu	37	5	134364597	134364597	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr5:134364597C>T	ENST00000265340.7	-	3	1233	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	PITX1_ENST00000506438.1_Missense_Mutation_p.V273I	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	273	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.V273I(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TCCCGGTAGACGCTGTAGGGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	5											44	44	44					5																	134364597		2203	4300	6503	134392496	SO:0001583	missense	5307			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"Homeoboxes / PRD class"	9004	protein-coding gene	gene with protein product		602149	"paired-like homeodomain transcription factor 1"	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.817G>A	5.37:g.134364597C>T	ENSP00000265340:p.Val273Ile		134392496	A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	CCDS4182.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677418	0.88445	.	.	ENSG00000069011	ENST00000265340;ENST00000506438	D;D	0.90788	-2.73;-2.73	4.14	4.14	0.48551	.	0.130098	0.50627	D	0.000117	D	0.92528	0.7627	L	0.48362	1.52	0.80722	D	1	D	0.60160	0.987	P	0.62014	0.897	D	0.93489	0.6834	10	0.72032	D	0.01	.	15.3899	0.74735	0.0:1.0:0.0:0.0	.	273	P78337	PITX1_HUMAN	I	273	ENSP00000265340:V273I;ENSP00000427542:V273I	ENSP00000265340:V273I	V	-	1	0	PITX1	134392496	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.296000	0.78790	1.859000	0.53934	0.462000	0.41574	GTC		0.672	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			T	134364597	C	T	134364597	3	4	252	1	0	0	0	0	1	0	0	0	11954	536	19	1	131	1	PITX1	5	134364597	Missense_Mutation	SNP	C	TCGA-24-1565-01A-01W-0551-08	83678836	134364597	46550663	11	13948											
GRIA1	2890	broad.mit.edu	37	5	153190617	153190617	+	Silent	SNP	C	C	T			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr5:153190617C>T	ENST00000285900.5	+	16	2896	c.2553C>T	c.(2551-2553)aaC>aaT	p.N851N	GRIA1_ENST00000340592.5_Silent_p.N851N|GRIA1_ENST00000518142.1_Silent_p.N771N|GRIA1_ENST00000521843.2_Silent_p.N782N|GRIA1_ENST00000518783.1_Silent_p.N861N|GRIA1_ENST00000448073.4_Silent_p.N861N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	851					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.N851N(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AATCCATCAACGAAGCCATAC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	5											68	71	70					5																	153190617		2203	4300	6503	153170810	SO:0001819	synonymous_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2553C>T	5.37:g.153190617C>T			153170810	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1																																																																																				0.587	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			T	153190617	C	T	153190617	2	4	252	1	0	0	0	0	0	0	0	1	6767	535	19	1		1	GRIA1	5	153190617	Silent	SNP	C	TCGA-24-1565-01A-01W-0551-08	18826020	153190617	27724643	12	13949											
LANCL2	55915	broad.mit.edu	37	7	55467798	55467798	+	Splice_Site	SNP	G	G	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr7:55467798G>A	ENST00000254770.2	+	4	1256		c.e4+1		LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)						negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TATTAAAGAGGTACTATGGGG	0.443																																																1	Unknown(1)	ovary(1)	7											182	163	170					7																	55467798		2203	4300	6503	55435292	SO:0001630	splice_region_variant	55915			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.678+1G>A	7.37:g.55467798G>A			55435292	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Splice_Site	SNP	ENST00000254770.2	37	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089286	0.76756	.	.	ENSG00000132434	ENST00000254770	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.071	0.89407	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LANCL2	55435292	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.842000	0.92136	2.684000	0.91462	0.591000	0.81541	.		0.443	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697	Intron	A	55467798	G	A	55467798	5	1	252	1	0	0	0	0	0	0	1	0	8621	1275	44	2	693	2	LANCL2	7	55467798	Splice_Site	SNP	G	TCGA-24-1565-01A-01W-0551-08		55467798	103670865	13	13950											
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> D (in CFC1). {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262}.|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AAGAAATATATCTGAGGTGTA	0.358		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	10	Substitution - Missense(10)	large_intestine(3)|lung(3)|skin(2)|ovary(1)|soft_tissue(1)	7											86	83	84					7																	140453193		2203	4298	6501	140099662	SO:0001630	splice_region_variant	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1742-1A>G	7.37:g.140453193T>C			140099662	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.68|17.68	3.450518|3.450518	0.63290|0.63290	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.99803	.|-6.82	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99864|0.99864	0.9936|0.9936	H|H	0.96970|0.96970	3.915|3.915	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.96655|0.96655	0.9484|0.9484	5|10	.|0.59425	.|D	.|0.04	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|581	.|P15056	.|BRAF_HUMAN	V|S	189|581	.|ENSP00000288602:N581S	.|ENSP00000288602:N581S	I|N	-|-	1|2	0|0	BRAF|BRAF	140099662|140099662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	ATA|AAT		0.358	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	Missense_Mutation	C	140453193	T	C	140453193	5	2	252	1	0	0	0	0	0	0	1	0	1496	1449	50	4	574	4	BRAF	7	140453193	Splice_Site	SNP	T	TCGA-24-1565-01A-01W-0551-08	84985395	140453193	18685470	14	13951											
PRKDC	5591	broad.mit.edu	37	8	48767881	48767881	+	Frame_Shift_Del	DEL	T	T	-			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	T	T	-	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr8:48767881delT	ENST00000314191.2	-	51	6716	c.6660delA	c.(6658-6660)aaafs	p.K2220fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.K2220fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2221					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.K2221fs*18(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAAAGACATGTTTCATTAGGA	0.378								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											1	Deletion - Frameshift(1)	ovary(1)	8											72	65	67					8																	48767881		1830	4089	5919	48930434	SO:0001589	frameshift_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6660delA	8.37:g.48767881delT	ENSP00000313420:p.Lys2220fs		48930434	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37																																																																																					0.378	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		-	48767881	T	-	48767881	7	5	252	1	0	1	0	1	0	0	0	0	12524	1722	60	0	5871	0	PRKDC	8	48767881	Frame_Shift_Del	DEL	T	TCGA-24-1565-01A-01W-0551-08		48767881	97596141	15	13952											
SLC24A2	25769	broad.mit.edu	37	9	19516389	19516389	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr9:19516389G>A	ENST00000341998.2	-	10	1809	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	SLC24A2_ENST00000286344.3_Missense_Mutation_p.P566L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	583					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.P583L(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CAGGAGCCAGGGCAGTGGGAG	0.517																																																1	Substitution - Missense(1)	ovary(1)	9											40	41	41					9																	19516389		2203	4300	6503	19506389	SO:0001583	missense	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1748C>T	9.37:g.19516389G>A	ENSP00000344801:p.Pro583Leu		19506389	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624466	0.87560	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.61980	0.06;0.06	5.07	5.07	0.68467	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.87865	0.6285	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92898	0.6337	9	.	.	.	.	18.4603	0.90736	0.0:0.0:1.0:0.0	.	566;583	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	L	583;566	ENSP00000344801:P583L;ENSP00000286344:P566L	.	P	-	2	0	SLC24A2	19506389	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.808000	0.99193	2.351000	0.79841	0.655000	0.94253	CCC		0.517	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		A	19516389	G	A	19516389	3	1	252	1	0	0	0	0	1	0	0	0	14469	1232	43	2	241	2	SLC24A2	9	19516389	Missense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08		19516389	121697042	16	13953											
COL15A1	1306	broad.mit.edu	37	9	101763192	101763192	+	Missense_Mutation	SNP	G	G	A	rs137949756	byFrequency	TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr9:101763192G>A	ENST00000375001.3	+	7	1447	c.1024G>A	c.(1024-1026)Ggc>Agc	p.G342S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	342	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.G342S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TACTGACAGCGGCTCAGGGGC	0.468											OREG0019364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	9						G	SER/GLY	3,4403	8.1+/-20.4	0,3,2200	83	76	78		1024	2.8	0.9	9	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL15A1	NM_001855.3	56	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	342/1389	101763192	4,13002	2203	4300	6503	100803013	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1024G>A	9.37:g.101763192G>A	ENSP00000364140:p.Gly342Ser	1361	100803013	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528966	0.44969	6.81E-4	1.16E-4	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.91180	-2.8	4.62	2.79	0.32731	.	1.854780	0.02430	N	0.083495	D	0.90403	0.6996	N	0.24115	0.695	0.25593	N	0.986678	D	0.67145	0.996	P	0.62089	0.898	T	0.79708	-0.1690	10	0.23302	T	0.38	-4.6285	7.2781	0.26296	0.1986:0.0:0.8014:0.0	.	342	P39059	COFA1_HUMAN	S	342;312	ENSP00000364140:G342S	ENSP00000364140:G342S	G	+	1	0	COL15A1	100803013	0.994000	0.37717	0.907000	0.35723	0.039000	0.13416	2.717000	0.47227	0.689000	0.31550	-0.768000	0.03414	GGC		0.468	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101763192	G	A	101763192	3	1	252	1	0	0	0	0	1	0	0	0	3672	1116	39	1	1050	1	COL15A1	9	101763192	Missense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08	82246803	101763192	39450239	17	13954											
EPB41L4B	54566	broad.mit.edu	37	9	111979393	111979393	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr9:111979393G>A	ENST00000374566.3	-	16	1959	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	481					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.S481L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAACCGGTCCGAGCTGCTAAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	9											68	68	68					9																	111979393		2120	4246	6366	111019214	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1442C>T	9.37:g.111979393G>A	ENSP00000363694:p.Ser481Leu		111019214	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702960	0.30232	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.83837	-1.77	5.91	5.91	0.95273	.	0.481175	0.15664	N	0.250746	T	0.74520	0.3727	N	0.24115	0.695	0.80722	D	1	B	0.24426	0.103	B	0.14023	0.01	T	0.68754	-0.5325	10	0.44086	T	0.13	.	15.7986	0.78433	0.0:0.0:1.0:0.0	.	481	Q9H329	E41LB_HUMAN	L	166;481	ENSP00000363694:S481L	ENSP00000262536:S166L	S	-	2	0	EPB41L4B	111019214	0.953000	0.32496	0.822000	0.32727	0.078000	0.17371	2.382000	0.44345	2.793000	0.96121	0.655000	0.94253	TCG		0.557	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		A	111979393	G	A	111979393	3	1	252	1	0	0	0	0	1	0	0	0	5156	1059	37	1	1304	1	EPB41L4B	9	111979393	Missense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08	10216201	111979393	29234038	18	13955											
KIAA1462	57608	broad.mit.edu	37	10	30336644	30336644	+	Missense_Mutation	SNP	G	G	A	rs530709153		TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr10:30336644G>A	ENST00000375377.1	-	2	199	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	33					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.A33V(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCAGTCCTCGCTGCCTGGCG	0.607																																																1	Substitution - Missense(1)	ovary(1)	10											59	65	63					10																	30336644		2043	4192	6235	30376650	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.98C>T	10.37:g.30336644G>A	ENSP00000364526:p.Ala33Val		30376650	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878523	0.51801	.	.	ENSG00000165757	ENST00000375377	T	0.14144	2.53	5.3	-3.52	0.04682	.	0.621181	0.15014	N	0.285382	T	0.08980	0.0222	L	0.57536	1.79	0.09310	N	1	P	0.41546	0.754	B	0.34242	0.178	T	0.17776	-1.0358	10	0.35671	T	0.21	-6.9937	4.4209	0.11479	0.0747:0.3804:0.2544:0.2905	.	33	Q9P266	K1462_HUMAN	V	33	ENSP00000364526:A33V	ENSP00000364526:A33V	A	-	2	0	KIAA1462	30376650	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	0.214000	0.17541	-0.273000	0.09246	-0.499000	0.04595	GCG		0.607	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30336644	G	A	30336644	3	1	252	1	0	0	0	0	1	0	0	0	8234	1087	38	1	3993	1	KIAA1462	10	30336644	Missense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08		30336644	105198103	19	13956											
CTR9	9646	broad.mit.edu	37	11	10800398	10800398	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr11:10800398C>T	ENST00000361367.2	+	25	3694	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1090	Ser-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.P1090S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAGTGACCAGCCATCCAGAAA	0.572																																																1	Substitution - Missense(1)	ovary(1)	11											82	84	83					11																	10800398		2201	4294	6495	10756974	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.3268C>T	11.37:g.10800398C>T	ENSP00000355013:p.Pro1090Ser		10756974	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558371	0.45590	.	.	ENSG00000198730	ENST00000361367	T	0.41758	0.99	5.5	3.37	0.38596	.	0.169923	0.53938	D	0.000043	T	0.18593	0.0446	N	0.12182	0.205	0.39621	D	0.970025	B	0.02656	0.0	B	0.01281	0.0	T	0.07654	-1.0761	10	0.13853	T	0.58	-8.4572	3.8364	0.08896	0.2227:0.5639:0.0:0.2134	.	1090	Q6PD62	CTR9_HUMAN	S	1090	ENSP00000355013:P1090S	ENSP00000355013:P1090S	P	+	1	0	CTR9	10756974	1.000000	0.71417	0.992000	0.48379	0.912000	0.54170	2.072000	0.41510	1.307000	0.44944	-0.182000	0.12963	CCA		0.572	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		T	10800398	C	T	10800398	3	4	252	1	0	0	0	0	1	0	0	0	4024	739	26	2	3366	2	CTR9	11	10800398	Missense_Mutation	SNP	C	TCGA-24-1565-01A-01W-0551-08		10800398	124206118	20	13957											
GRIA4	2893	broad.mit.edu	37	11	105769126	105769126	+	Silent	SNP	G	G	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr11:105769126G>A	ENST00000530497.1	+	6	858	c.858G>A	c.(856-858)gaG>gaA	p.E286E	GRIA4_ENST00000282499.5_Silent_p.E286E|GRIA4_ENST00000525187.1_Silent_p.E286E|GRIA4_ENST00000428631.2_Silent_p.E286E|GRIA4_ENST00000393125.2_Silent_p.E286E|GRIA4_ENST00000393127.2_Silent_p.E286E			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	286					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.E286E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATCAGAGAGAGTATCCAGGAT	0.338																																																1	Substitution - coding silent(1)	ovary(1)	11											59	60	59					11																	105769126		2202	4299	6501	105274336	SO:0001819	synonymous_variant	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.858G>A	11.37:g.105769126G>A			105274336	Q86XE8	Silent	SNP	ENST00000530497.1	37	CCDS8333.1																																																																																				0.338	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			A	105769126	G	A	105769126	2	1	252	1	0	0	0	0	0	0	0	1	6770	1020	36	2		2	GRIA4	11	105769126	Silent	SNP	G	TCGA-24-1565-01A-01W-0551-08	94968728	105769126	29237390	21	13958											
ANPEP	290	broad.mit.edu	37	15	90349532	90349532	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr15:90349532G>A	ENST00000300060.6	-	2	596	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	95	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.P95S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CTGTCATTGGGGGTGAGGTAC	0.567																																					NSCLC(30;827 977 2459 19669 26125)											1	Substitution - Missense(1)	ovary(1)	15											104	82	90					15																	90349532		2200	4299	6499	88150536	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.283C>T	15.37:g.90349532G>A	ENSP00000300060:p.Pro95Ser		88150536	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204456	0.38905	.	.	ENSG00000166825	ENST00000300060	T	0.04119	3.7	4.94	3.93	0.45458	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.803406	0.11695	N	0.538489	T	0.09862	0.0242	L	0.44542	1.39	0.26590	N	0.973228	P	0.38473	0.633	P	0.51974	0.686	T	0.15321	-1.0441	10	0.09843	T	0.71	.	11.3392	0.49523	0.0:0.0:0.7352:0.2648	.	95	P15144	AMPN_HUMAN	S	95	ENSP00000300060:P95S	ENSP00000300060:P95S	P	-	1	0	ANPEP	88150536	1.000000	0.71417	0.956000	0.39512	0.031000	0.12232	4.164000	0.58190	2.288000	0.76882	0.467000	0.42956	CCC		0.567	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			A	90349532	G	A	90349532	3	1	252	1	0	0	0	0	1	0	0	0	710	1232	43	2	2700	2	ANPEP	15	90349532	Missense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08		90349532	12181860	22	13959											
OR3A2	4995	broad.mit.edu	37	17	3181524	3181524	+	Nonsense_Mutation	SNP	G	G	A	rs373734930		TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr17:3181524G>A	ENST00000408891.2	-	1	744	c.706C>T	c.(706-708)Cga>Tga	p.R236*	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	236					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.R236*(1)		ovary(1)	1						GAACGGATTCGTAGAACTGCA	0.517													G|||	1	0.000199681	0	0	5008	,	,		21441	0		0.001	False		,,,				2504	0				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)											1	Substitution - Nonsense(1)	ovary(1)	17						G	stop/ARG	0,4406		0,0,2203	51	53	52		706	1.7	0	17		52	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR3A2	NM_002551.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		236/322	3181524	1,13005	2203	4300	6503	3128274	SO:0001587	stop_gained	4995			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.706C>T	17.37:g.3181524G>A	ENSP00000386180:p.Arg236*		3128274	Q6IFM3|Q9P1Q3	Nonsense_Mutation	SNP	ENST00000408891.2	37	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642902	0.29246	0.0	1.16E-4	ENSG00000221882	ENST00000408891	.	.	.	4.9	1.72	0.24424	.	0.899233	0.09160	N	0.840281	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1513	7.2807	0.26310	0.0819:0.0:0.3735:0.5446	.	.	.	.	X	236	.	ENSP00000386180:R236X	R	-	1	2	OR3A2	3128274	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.063000	0.11655	0.330000	0.23485	0.561000	0.74099	CGA		0.517	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			A	3181524	G	A	3181524	4	1	252	1	0	0	0	0	0	1	0	0	11038	1153	40	1	263	1	OR3A2	17	3181524	Nonsense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08		3181524	78013686	23	13960											
MYH4	4622	broad.mit.edu	37	17	10351711	10351711	+	Splice_Site	SNP	A	A	T			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr17:10351711A>T	ENST00000255381.2	-	33	4767		c.e33+1		RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAAAAATGTACCTCTGCTTC	0.353																																																1	Unknown(1)	ovary(1)	17											84	79	81					17																	10351711		2203	4300	6503	10292436	SO:0001630	splice_region_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4656+1T>A	17.37:g.10351711A>T			10292436		Splice_Site	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284965	0.80803	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2433	0.82426	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH4	10292436	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.231000	0.72307	2.296000	0.77279	0.533000	0.62120	.		0.353	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Intron	T	10351711	A	T	10351711	5	4	252	1	0	0	0	0	0	0	1	0	10037	405	14	5	1193	5	MYH4	17	10351711	Splice_Site	SNP	A	TCGA-24-1565-01A-01W-0551-08	7170187	10351711	70843499	24	13961											
KRT12	3859	broad.mit.edu	37	17	39023371	39023371	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr17:39023371G>C	ENST00000251643.4	-	1	91	c.68C>G	c.(67-69)tCg>tGg	p.S23W		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	23	Head.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S23W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CACACTCTGCGAGGAGAGCCG	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											49	52	51					17																	39023371		2203	4300	6503	36276897	SO:0001583	missense	3859				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.68C>G	17.37:g.39023371G>C	ENSP00000251643:p.Ser23Trp		36276897	B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815699	0.50527	.	.	ENSG00000187242	ENST00000251643	D	0.84516	-1.86	5.61	4.64	0.57946	.	0.278761	0.26048	N	0.026652	T	0.81475	0.4830	L	0.29908	0.895	0.48830	D	0.999712	D	0.61697	0.99	P	0.49683	0.619	T	0.82824	-0.0266	10	0.72032	D	0.01	.	10.5268	0.44954	0.154:0.0:0.846:0.0	.	23	Q99456	K1C12_HUMAN	W	23	ENSP00000251643:S23W	ENSP00000251643:S23W	S	-	2	0	KRT12	36276897	0.045000	0.20229	0.056000	0.19401	0.222000	0.24845	1.425000	0.34859	1.500000	0.48636	0.655000	0.94253	TCG		0.607	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		C	39023371	G	C	39023371	3	2	252	1	0	0	0	0	1	0	0	0	8449	1059	37	3	1448	3	KRT12	17	39023371	Missense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08	28671660	39023371	42171839	25	13962											
CYP4F3	4051	broad.mit.edu	37	19	15756582	15756582	+	Silent	SNP	C	C	T	rs148575704		TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr19:15756582C>T	ENST00000221307.8	+	3	299	c.252C>T	c.(250-252)ttC>ttT	p.F84F	CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	84					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.F84F(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CATGCACCTTCGGTGATATGT	0.557													.|||	1	0.000199681	0	0	5008	,	,		21961	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	19											124	115	118					19																	15756582		2203	4300	6503	15617582	SO:0001819	synonymous_variant	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.252C>T	19.37:g.15756582C>T			15617582	B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	CCDS12332.1																																																																																				0.557	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		T	15756582	C	T	15756582	2	4	252	1	0	0	0	0	0	0	0	1	4190	883	31	1		1	CYP4F3	19	15756582	Silent	SNP	C	TCGA-24-1565-01A-01W-0551-08		15756582	43372401	26	13963											
SIGLEC1	6614	broad.mit.edu	37	20	3674892	3674892	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr20:3674892C>T	ENST00000344754.4	-	12	3231	c.3232G>A	c.(3232-3234)Gcc>Acc	p.A1078T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1078T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1078	Ig-like C2-type 10.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A1078T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCAGCTGAGGCCGAGGCCTGG	0.577																																																1	Substitution - Missense(1)	ovary(1)	20											67	56	60					20																	3674892		2183	4254	6437	3622892	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3232G>A	20.37:g.3674892C>T	ENSP00000341141:p.Ala1078Thr		3622892	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764201	0.49574	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.68624	-0.34;-0.34	5.3	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41605	D	0.000860	T	0.77239	0.4101	L	0.60845	1.875	0.28636	N	0.907432	P;D	0.76494	0.879;0.999	P;D	0.69479	0.559;0.964	T	0.69771	-0.5055	10	0.23302	T	0.38	.	16.7947	0.85598	0.0:1.0:0.0:0.0	.	1078;1078	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	T	1078	ENSP00000341141:A1078T;ENSP00000202578:A1078T	ENSP00000202578:A1078T	A	-	1	0	SIGLEC1	3622892	0.199000	0.23386	0.163000	0.22734	0.120000	0.20174	0.490000	0.22403	2.653000	0.90120	0.561000	0.74099	GCC		0.577	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		T	3674892	C	T	3674892	3	4	252	1	0	0	0	0	1	0	0	0	14308	739	26	2	1937	2	SIGLEC1	20	3674892	Missense_Mutation	SNP	C	TCGA-24-1565-01A-01W-0551-08		3674892	59350628	27	13964											
PLCB1	23236	broad.mit.edu	37	20	8769132	8769132	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr20:8769132C>A	ENST00000338037.6	+	28	3175	c.3148C>A	c.(3148-3150)Cag>Aag	p.Q1050K	PLCB1_ENST00000378637.2_Missense_Mutation_p.Q1050K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.Q1050K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1050					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.Q1050K(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAAGAGTGTCAGAACAATCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	20											70	67	68					20																	8769132		2203	4300	6503	8717132	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3148C>A	20.37:g.8769132C>A	ENSP00000338185:p.Gln1050Lys		8717132	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255604	0.95336	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.57907	0.37;0.37;0.37	5.28	5.28	0.74379	PLC-beta, C-terminal (1);	0.117014	0.64402	D	0.000013	T	0.66096	0.2755	L	0.61218	1.895	0.80722	D	1	D;P	0.54964	0.969;0.887	P;P	0.55749	0.783;0.669	T	0.65586	-0.6132	10	0.45353	T	0.12	.	19.2861	0.94072	0.0:1.0:0.0:0.0	.	1050;1050	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	1050;1050;1050;970;970	ENSP00000367908:Q1050K;ENSP00000338185:Q1050K;ENSP00000367904:Q1050K	ENSP00000338185:Q1050K	Q	+	1	0	PLCB1	8717132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.640000	0.89533	0.563000	0.77884	CAG		0.378	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			A	8769132	C	A	8769132	3	1	252	1	0	0	0	0	1	0	0	0	12027	827	29	3	3258	3	PLCB1	20	8769132	Missense_Mutation	SNP	C	TCGA-24-1565-01A-01W-0551-08	5094240	8769132	54256388	28	13965											
STK4	6789	broad.mit.edu	37	20	43703741	43703741	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chr20:43703741G>A	ENST00000372806.3	+	11	1483	c.1388G>A	c.(1387-1389)cGg>cAg	p.R463Q	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.R408Q	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	463	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.R463Q(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GAAGAGATCCGGCAGAAGTAC	0.552																																					GBM(187;1039 2137 11798 21916 33213)											1	Substitution - Missense(1)	ovary(1)	20											54	52	53					20																	43703741		2203	4300	6503	43137155	SO:0001583	missense	6789				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1388G>A	20.37:g.43703741G>A	ENSP00000361892:p.Arg463Gln		43137155	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973318	0.74246	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.75154	-0.91;0.04	5.99	5.99	0.97316	SARAH domain (1);SARAH (1);	0.063318	0.64402	D	0.000005	T	0.68091	0.2963	L	0.46885	1.475	0.80722	D	1	D;P	0.53151	0.958;0.766	B;B	0.42030	0.373;0.354	T	0.68135	-0.5489	10	0.35671	T	0.21	.	13.6476	0.62290	0.0704:0.0:0.9296:0.0	.	408;463	F5H5B4;Q13043	.;STK4_HUMAN	Q	463;408	ENSP00000361892:R463Q;ENSP00000443514:R408Q	ENSP00000361892:R463Q	R	+	2	0	STK4	43137155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.620000	0.83070	2.847000	0.97988	0.655000	0.94253	CGG		0.552	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		A	43703741	G	A	43703741	3	1	252	1	0	0	0	0	1	0	0	0	15308	1116	39	1	1430	1	STK4	20	43703741	Missense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08	34934609	43703741	19321779	29	13966											
KCND1	3750	broad.mit.edu	37	X	48819928	48819928	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chrX:48819928C>T	ENST00000218176.3	-	6	3155	c.1858G>A	c.(1858-1860)Ggt>Agt	p.G620S	KCND1_ENST00000376477.1_Missense_Mutation_p.G243S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	620					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.G620S(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GCCCTGCCACCGCCGCCAGGG	0.637																																																1	Substitution - Missense(1)	ovary(1)	X											32	29	30					X																	48819928		2203	4300	6503	48704872	SO:0001583	missense	3750			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1858G>A	X.37:g.48819928C>T	ENSP00000218176:p.Gly620Ser		48704872	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	c	0.026	-1.367685	0.01225	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.95788	-3.31;-3.81	5.32	3.5	0.40072	.	0.628911	0.15141	N	0.278288	D	0.88514	0.6457	N	0.22421	0.69	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.71283	-0.4639	10	0.02654	T	1	.	9.7176	0.40284	0.0:0.8178:0.0:0.1822	.	620	Q9NSA2	KCND1_HUMAN	S	243;620	ENSP00000365660:G243S;ENSP00000218176:G620S	ENSP00000218176:G620S	G	-	1	0	KCND1	48704872	0.000000	0.05858	0.011000	0.14972	0.032000	0.12392	0.058000	0.14301	0.424000	0.26061	0.431000	0.28591	GGT		0.637	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		T	48819928	C	T	48819928	3	4	252	1	0	0	0	0	1	0	0	0	8018	652	23	1	89	1	KCND1	23	48819928	Missense_Mutation	SNP	C	TCGA-24-1565-01A-01W-0551-08		48819928	106450632	30	13967											
BEX1	55859	broad.mit.edu	37	X	102317854	102317854	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1565-01A-01W-0551-08	TCGA-24-1565-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	e411496c-ce15-48c7-bd51-cb4bd6d34d65	65cd679f-5442-4a1b-ad0c-a2bd142fa3e5	g.chrX:102317854G>C	ENST00000372728.3	-	3	588	c.349C>G	c.(349-351)Cat>Gat	p.H117D		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	117					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)	p.H117D(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TCATCATGATGGTCATGGTGA	0.483																																																1	Substitution - Missense(1)	ovary(1)	X											178	142	154					X																	102317854		2203	4300	6503	102204510	SO:0001583	missense	55859				CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.349C>G	X.37:g.102317854G>C	ENSP00000361813:p.His117Asp		102204510	A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559370	0.45590	.	.	ENSG00000133169	ENST00000372728	T	0.10005	2.92	3.21	2.33	0.28932	.	0.144198	0.32372	N	0.006191	T	0.28366	0.0701	M	0.83483	2.645	0.30969	N	0.72281	D	0.76494	0.999	D	0.69824	0.966	T	0.16100	-1.0414	10	0.66056	D	0.02	.	5.4607	0.16615	0.1592:0.0:0.8408:0.0	.	117	Q9HBH7	BEX1_HUMAN	D	117	ENSP00000361813:H117D	ENSP00000361813:H117D	H	-	1	0	BEX1	102204510	1.000000	0.71417	0.982000	0.44146	0.947000	0.59692	1.094000	0.30951	0.740000	0.32651	0.597000	0.82753	CAT		0.483	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476		C	102317854	G	C	102317854	3	2	252	1	0	0	0	0	1	0	0	0	1410	1348	47	3	32	3	BEX1	23	102317854	Missense_Mutation	SNP	G	TCGA-24-1565-01A-01W-0551-08	53497926	102317854	52952706	31	13968											
IFI6	2537	hgsc.bcm.edu	37	1	27992950	27992950	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:27992950C>G	ENST00000361157.6	-	5	462	c.335G>C	c.(334-336)gGt>gCt	p.G112A	IFI6_ENST00000362020.4_Missense_Mutation_p.G116A|IFI6_ENST00000339145.4_Missense_Mutation_p.G120A	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	112					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.G112A(1)		lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATCAGGGCACCAATATTACC	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											78	68	71					1																	27992950		2203	4300	6503	27865537	SO:0001583	missense	2537			BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"interferon, alpha-inducible protein (clone IFI-6-16)"	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.335G>C	1.37:g.27992950C>G	ENSP00000354736:p.Gly112Ala		27865537	Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	ENST00000361157.6	37	CCDS306.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693720	0.48202	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.41065	1.01;1.01;1.01	2.49	2.49	0.30216	.	0.065662	0.64402	D	0.000011	T	0.62024	0.2394	M	0.83953	2.67	0.19300	N	0.999971	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.49854	-0.8895	10	0.72032	D	0.01	.	8.6193	0.33851	0.0:1.0:0.0:0.0	.	116;112;120	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	A	112;120;116	ENSP00000354736:G112A;ENSP00000342513:G120A;ENSP00000355152:G116A	ENSP00000342513:G120A	G	-	2	0	IFI6	27865537	0.038000	0.19896	0.163000	0.22734	0.063000	0.16089	2.054000	0.41335	1.721000	0.51461	0.655000	0.94253	GGT		0.547	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009780.1	NM_022873		G	27992950	C	G	27992950	3	3	253	1	0	0	0	0	1	0	0	0	7519	507	18	3	61	3	IFI6	1	27992950	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10		27992950	221257671	1	13969											
MYCL1	4610	hgsc.bcm.edu	37	1	40363242	40363242	+	Silent	SNP	C	C	G	rs371566708		TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:40363242C>G	ENST00000372816.2	-	2	1344	c.897G>C	c.(895-897)tcG>tcC	p.S299S	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000397332.2_Silent_p.S329S			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	299	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S329S(1)									CCAAGAATCGCGAACGCAGGT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	1											77	76	76					1																	40363242		2203	4300	6503	40135829	SO:0001819	synonymous_variant	4610				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"Basic helix-loop-helix proteins"	7555	protein-coding gene	gene with protein product	"l-myc protein", "myc-related gene from lung cancer", "oncogene lmyc"	164850	"v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.897G>C	1.37:g.40363242C>G			40135829	A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Silent	SNP	ENST00000372816.2	37	CCDS30682.1																																																																																				0.567	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		G	40363242	C	G	40363242	2	3	253	1	0	0	0	0	0	0	0	1	10020	755	27	3		3	MYCL1	1	40363242	Silent	SNP	C	TCGA-24-1567-01A-01W-0615-10	12370292	40363242	208887379	2	13970											
MFSD2A	84879	hgsc.bcm.edu	37	1	40422814	40422814	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:40422814C>G	ENST00000372809.5	+	2	292	c.149C>G	c.(148-150)gCa>gGa	p.A50G	MFSD2A_ENST00000372811.5_Missense_Mutation_p.A50G|MFSD2A_ENST00000420632.2_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	50					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.A50G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTTGCTATGCACTTGGGGGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											196	209	205					1																	40422814		2203	4300	6503	40195401	SO:0001583	missense	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.149C>G	1.37:g.40422814C>G	ENSP00000361895:p.Ala50Gly		40195401	A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185721	0.38609	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	D;D;D	0.83673	-1.75;-1.75;-1.75	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.051554	0.85682	D	0.000000	T	0.76586	0.4008	L	0.28740	0.885	0.80722	D	1	P;P	0.42735	0.788;0.562	P;B	0.46076	0.503;0.315	T	0.73839	-0.3856	10	0.02654	T	1	-10.8441	16.9853	0.86338	0.0:1.0:0.0:0.0	.	50;50	Q8NA29;Q8NA29-2	MFS2A_HUMAN;.	G	50;48;50	ENSP00000361898:A50G;ENSP00000407606:A48G;ENSP00000361895:A50G	ENSP00000361895:A50G	A	+	2	0	MFSD2A	40195401	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	4.408000	0.59761	2.250000	0.74265	0.462000	0.41574	GCA		0.512	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		G	40422814	C	G	40422814	3	3	253	1	0	0	0	0	1	0	0	0	9530	710	25	3	155	3	MFSD2A	1	40422814	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	59572	40422814	208827807	3	13971											
INADL	10207	hgsc.bcm.edu	37	1	62365312	62365312	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:62365312G>T	ENST00000371158.2	+	23	3303	c.3189G>T	c.(3187-3189)tgG>tgT	p.W1063C	INADL_ENST00000316485.6_Missense_Mutation_p.W1063C	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1063					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.W1063C(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTAGCCACTGGGGTCCACCGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											169	167	168					1																	62365312		2203	4300	6503	62137900	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3189G>T	1.37:g.62365312G>T	ENSP00000360200:p.Trp1063Cys		62137900	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869669	0.72065	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.41758	0.99;0.99	5.26	5.26	0.73747	PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000001	T	0.67785	0.2930	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.71167	-0.4672	10	0.72032	D	0.01	.	19.2911	0.94100	0.0:0.0:1.0:0.0	.	1063;1063;1063	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	C	1063	ENSP00000360200:W1063C;ENSP00000326199:W1063C	ENSP00000255202:W1063C	W	+	3	0	INADL	62137900	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.440000	0.90311	2.636000	0.89361	0.579000	0.79373	TGG		0.398	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		T	62365312	G	T	62365312	3	4	253	1	0	0	0	0	1	0	0	0	7731	1241	43	3	3275	3	INADL	1	62365312	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10	21942498	62365312	186885309	4	13972											
VAV3	10451	hgsc.bcm.edu	37	1	108299882	108299882	+	Splice_Site	SNP	C	C	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:108299882C>G	ENST00000370056.4	-	11	1361		c.e11+1		VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000343258.4_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.?(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATCTGCCCTACCTTCATGGCA	0.383																																																1	Unknown(1)	ovary(1)	1											150	144	146					1																	108299882		2203	4300	6503	108101405	SO:0001630	splice_region_variant	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1086+1G>C	1.37:g.108299882C>G			108101405	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.023527	0.75390	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000490388;ENST00000371846	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1174	0.97942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108101405	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.381000	0.79718	2.755000	0.94549	0.639000	0.83563	.		0.383	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Intron	G	108299882	C	G	108299882	5	3	253	1	0	0	0	0	0	0	1	0	17133	521	18	3	1549	3	VAV3	1	108299882	Splice_Site	SNP	C	TCGA-24-1567-01A-01W-0615-10	45934570	108299882	140950739	5	13973											
C1orf183	55924	hgsc.bcm.edu	37	1	112269817	112269817	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:112269817C>A	ENST00000357260.5	-	2	848	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	FAM212B_ENST00000444059.2_Missense_Mutation_p.D208Y|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	223								p.D223Y(1)		cervix(1)|endometrium(1)	2						AGCAGCCGGTCACGGTCAGGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											52	54	54					1																	112269817		2203	4300	6503	112071340	SO:0001583	missense	55924			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 183"	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.667G>T	1.37:g.112269817C>A	ENSP00000349805:p.Asp223Tyr		112071340	B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	CCDS841.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640540	0.87859	.	.	ENSG00000197852	ENST00000357260;ENST00000444059	.	.	.	5.07	5.07	0.68467	.	0.052739	0.64402	D	0.000001	T	0.57548	0.2061	N	0.20986	0.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.65768	-0.6088	9	0.87932	D	0	-29.3326	17.1972	0.86895	0.0:1.0:0.0:0.0	.	208;223	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	Y	223;208	.	ENSP00000349805:D223Y	D	-	1	0	C1orf183	112071340	1.000000	0.71417	0.975000	0.42487	0.990000	0.78478	7.405000	0.80007	2.357000	0.79964	0.484000	0.47621	GAC		0.607	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		A	112269817	C	A	112269817	3	1	253	1	0	0	0	0	1	0	0	0	2019	826	29	3	230	3	C1orf183	1	112269817	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	3969935	112269817	136980804	6	13974											
SLAMF1	6504	hgsc.bcm.edu	37	1	160616707	160616707	+	Missense_Mutation	SNP	G	G	A	rs146508660		TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:160616707G>A	ENST00000302035.6	-	1	378	c.29C>T	c.(28-30)aCc>aTc	p.T10I	SLAMF1_ENST00000355199.3_Missense_Mutation_p.T10I|SLAMF1_ENST00000235739.5_Missense_Mutation_p.T10I|SLAMF1_ENST00000538290.1_Missense_Mutation_p.T10I	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	10					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.T10I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGCACGAAGGTCAAGGAGAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	1						G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	67	61	63		29	-5.7	0	1	dbSNP_134	63	0,8600		0,0,4300	no	missense	SLAMF1	NM_003037.2	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	10/336	160616707	1,13005	2203	4300	6503	158883331	SO:0001583	missense	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.29C>T	1.37:g.160616707G>A	ENSP00000306190:p.Thr10Ile		158883331	Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	1.963	-0.438369	0.04636	2.27E-4	0.0	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	3.84	-5.65	0.02459	Signaling lymphocytic activation molecule, N-terminal (2);	2.269430	0.01361	N	0.012239	T	0.06962	0.0177	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.09773	-1.0659	10	0.20519	T	0.43	-10.3085	0.3538	0.00353	0.2704:0.2573:0.2686:0.2036	.	10;10	B4E2E4;Q13291	.;SLAF1_HUMAN	I	10	ENSP00000306190:T10I;ENSP00000235739:T10I;ENSP00000438406:T10I;ENSP00000347333:T10I	ENSP00000235739:T10I	T	-	2	0	SLAMF1	158883331	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	-0.214000	0.09292	-1.113000	0.02981	-1.118000	0.02043	ACC		0.562	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			A	160616707	G	A	160616707	3	1	253	1	0	0	0	0	1	0	0	0	14370	1261	44	2	1006	2	SLAMF1	1	160616707	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10	48346890	160616707	88633914	7	13975											
IVNS1ABP	10625	hgsc.bcm.edu	37	1	185270654	185270654	+	Silent	SNP	G	G	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:185270654G>A	ENST00000367498.3	-	9	1429	c.807C>T	c.(805-807)agC>agT	p.S269S	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.S51S	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	269	Sufficient for AHR interaction and signaling.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.S269S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CAGTTGAACTGCTACTTATCT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	1											254	229	238					1																	185270654		2203	4300	6503	183537277	SO:0001819	synonymous_variant	10625			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.807C>T	1.37:g.185270654G>A			183537277	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Silent	SNP	ENST00000367498.3	37	CCDS1368.1																																																																																				0.408	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		A	185270654	G	A	185270654	2	1	253	1	0	0	0	0	0	0	0	1	7930	1310	46	2		2	IVNS1ABP	1	185270654	Silent	SNP	G	TCGA-24-1567-01A-01W-0615-10	24653947	185270654	63979967	8	13976											
LGR6	59352	hgsc.bcm.edu	37	1	202249950	202249962	+	Frame_Shift_Del	DEL	GCTTCGAGGGGCT	GCTTCGAGGGGCT	-	rs144135845|rs546447981		TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	GCTTCGAGGGGCT	GCTTCGAGGGGCT	GCTTCGAGGGGCT	-	GCTTCGAGGGGCT	GCTTCGAGGGGCT	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:202249950_202249962delGCTTCGAGGGGCT	ENST00000367278.3	+	6	775_787	c.686_698delGCTTCGAGGGGCT	c.(685-699)agcttcgaggggctgfs	p.SFEGL229fs	LGR6_ENST00000255432.7_Frame_Shift_Del_p.SFEGL177fs|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	229					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.F230fs*6(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGACCCACAGCTTCGAGGGGCTGCACAATCTG	0.573																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								200516585	SO:0001589	frameshift_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.686_698delGCTTCGAGGGGCT	1.37:g.202249950_202249962delGCTTCGAGGGGCT	ENSP00000356247:p.Ser229fs		200516573	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Frame_Shift_Del	DEL	ENST00000367278.3	37	CCDS30971.1																																																																																				0.573	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		-	202249962	GCTTCGAGGGGCT	-	202249950	7	5	253	1	0	1	0	1	0	0	0	0	8758	971	34	0	855	0	LGR6	1	202249950	Frame_Shift_Del	DEL	GCTTCGAGGGGCT	TCGA-24-1567-01A-01W-0615-10	16979296	202249950	47000671	9	13977											
NFASC	23114	hgsc.bcm.edu	37	1	204939827	204939827	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr1:204939827A>T	ENST00000401399.1	+	10	1286	c.1087A>T	c.(1087-1089)Aac>Tac	p.N363Y	NFASC_ENST00000367172.4_Missense_Mutation_p.N363Y|NFASC_ENST00000338586.6_Missense_Mutation_p.N363Y|NFASC_ENST00000403080.1_Missense_Mutation_p.N363Y|NFASC_ENST00000367169.4_Missense_Mutation_p.N363Y|NFASC_ENST00000367171.4_Missense_Mutation_p.N363Y|NFASC_ENST00000338515.6_Missense_Mutation_p.N363Y|NFASC_ENST00000404907.1_Missense_Mutation_p.N374Y|NFASC_ENST00000404076.1_Missense_Mutation_p.N357Y|NFASC_ENST00000539706.1_Missense_Mutation_p.N374Y|NFASC_ENST00000513543.1_Missense_Mutation_p.N374Y|NFASC_ENST00000360049.4_Missense_Mutation_p.N374Y|NFASC_ENST00000339876.6_Missense_Mutation_p.N363Y|NFASC_ENST00000367170.4_Missense_Mutation_p.N363Y			O94856	NFASC_HUMAN	neurofascin	363	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.N374Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCCAATGGAAACCCCAAACC	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											126	101	110					1																	204939827		2203	4300	6503	203206450	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1087A>T	1.37:g.204939827A>T	ENSP00000385637:p.Asn363Tyr		203206450	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	31|31	5.075579|5.075579	0.94000|0.94000	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.68025	.|-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.64402	.|D	.|0.000015	T|T	0.77350|0.77350	0.4117|0.4117	L|L	0.52126|0.52126	1.63|1.63	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D	.|0.76494	.|0.999;0.998;0.999;0.999;0.993;0.999;0.999	.|D;P;D;D;P;P;D	.|0.70716	.|0.915;0.811;0.97;0.928;0.682;0.898;0.943	T|T	0.79017|0.79017	-0.1975|-0.1975	5|10	.|0.62326	.|D	.|0.03	.|.	15.5193|15.5193	0.75854|0.75854	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|374;374;459;363;363;374;363	.|O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.;.	D|Y	332|363;363;363;363;363;363;374;374;374;363;363;357;363;374;374;350	.|ENSP00000356140:N363Y;ENSP00000356139:N363Y;ENSP00000356138:N363Y;ENSP00000342128:N363Y;ENSP00000344786:N363Y;ENSP00000343509:N363Y;ENSP00000438614:N374Y;ENSP00000353154:N374Y;ENSP00000356137:N363Y;ENSP00000384875:N363Y;ENSP00000385676:N357Y;ENSP00000385637:N363Y;ENSP00000384061:N374Y;ENSP00000425908:N374Y;ENSP00000415031:N350Y	.|ENSP00000295776:N374Y	E|N	+|+	3|1	2|0	NFASC|NFASC	203206450|203206450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.234000|9.234000	0.95347|0.95347	2.147000|2.147000	0.66899|0.66899	0.533000|0.533000	0.62120|0.62120	GAA|AAC		0.532	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		T	204939827	A	T	204939827	3	4	253	1	0	0	0	0	1	0	0	0	10359	14	1	5	1176	5	NFASC	1	204939827	Missense_Mutation	SNP	A	TCGA-24-1567-01A-01W-0615-10	2689877	204939827	44310794	10	13978											
VIT	5212	hgsc.bcm.edu	37	2	37010538	37010538	+	Silent	SNP	A	A	G	rs145378979		TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr2:37010538A>G	ENST00000389975.3	+	10	1160	c.858A>G	c.(856-858)ggA>ggG	p.G286G	VIT_ENST00000401530.1_Intron|VIT_ENST00000404084.1_Silent_p.G238G|VIT_ENST00000379241.3_Silent_p.G264G|VIT_ENST00000379242.3_Silent_p.G301G|VIT_ENST00000497382.1_5'UTR	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	286					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.G301G(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TATCCCTGGGAGATCCAAGTA	0.453																																																1	Substitution - coding silent(1)	ovary(1)	2											92	85	87					2																	37010538		2203	4300	6503	36864042	SO:0001819	synonymous_variant	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.858A>G	2.37:g.37010538A>G			36864042	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.362025	0.24684	.	.	ENSG00000205221	ENST00000464309	.	.	.	5.91	4.73	0.59995	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58657	-0.7598	4	.	.	.	-14.5648	10.0551	0.42239	0.8309:0.1691:0.0:0.0	.	.	.	.	G	53	.	.	E	+	2	0	VIT	36864042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.525000	0.53502	1.023000	0.39654	0.533000	0.62120	GAG		0.453	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				G	37010538	A	G	37010538	2	3	253	1	0	0	0	0	0	0	0	1	17171	291	11	4		4	VIT	2	37010538	Silent	SNP	A	TCGA-24-1567-01A-01W-0615-10		37010538	206188835	11	13979											
CLEC4F	165530	hgsc.bcm.edu	37	2	71036484	71036484	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr2:71036484T>G	ENST00000272367.2	-	7	1765	c.1689A>C	c.(1687-1689)agA>agC	p.R563S	CLEC4F_ENST00000426626.1_Intron	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	563	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R563S(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TAATATACTTTCTGAGTGGGC	0.532																																					Colon(107;10 2157 6841 26035)											1	Substitution - Missense(1)	ovary(1)	2											64	63	63					2																	71036484		2203	4300	6503	70889992	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1689A>C	2.37:g.71036484T>G	ENSP00000272367:p.Arg563Ser		70889992	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	T	8.387	0.838850	0.16891	.	.	ENSG00000152672	ENST00000272367	T	0.01665	4.7	2.49	1.31	0.21738	C-type lectin (2);	.	.	.	.	T	0.00906	0.0030	N	0.05554	-0.025	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.47959	-0.9076	9	0.07175	T	0.84	.	4.3784	0.11281	0.0:0.1664:0.0:0.8336	.	563	Q8N1N0	CLC4F_HUMAN	S	563	ENSP00000272367:R563S	ENSP00000272367:R563S	R	-	3	2	CLEC4F	70889992	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.053000	0.14184	0.381000	0.24851	0.254000	0.18369	AGA		0.532	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		G	71036484	T	G	71036484	3	3	253	1	0	0	0	0	1	0	0	0	3516	1780	62	5	84	5	CLEC4F	2	71036484	Missense_Mutation	SNP	T	TCGA-24-1567-01A-01W-0615-10	34025946	71036484	172162889	12	13980											
CNGA3	1261	hgsc.bcm.edu	37	2	98994252	98994252	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr2:98994252G>T	ENST00000272602.2	+	2	243	c.204G>T	c.(202-204)caG>caT	p.Q68H	CNGA3_ENST00000436404.2_Missense_Mutation_p.Q68H|CNGA3_ENST00000393504.1_Missense_Mutation_p.Q68H|CNGA3_ENST00000409937.1_Missense_Mutation_p.Q17H			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	68					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.Q68H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCACCGGCCAGGGGATCGCCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	2											25	23	24					2																	98994252		2203	4300	6503	98360684	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.204G>T	2.37:g.98994252G>T	ENSP00000272602:p.Gln68His		98360684	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989902	0.35131	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;D	0.98876	0.79;0.79;0.79;-5.2	5.01	-0.703	0.11261	.	10.923100	0.00357	N	0.000029	D	0.96414	0.8830	L	0.60455	1.87	0.09310	N	1	P;P;B	0.45283	0.855;0.511;0.0	B;B;B	0.37780	0.258;0.19;0.001	D	0.90665	0.4593	10	0.45353	T	0.12	.	0.643	0.00813	0.1961:0.2637:0.2666:0.2736	.	17;68;68	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	H	68;68;68;17	ENSP00000377140:Q68H;ENSP00000410070:Q68H;ENSP00000272602:Q68H;ENSP00000386761:Q17H	ENSP00000272602:Q68H	Q	+	3	2	CNGA3	98360684	0.031000	0.19500	0.000000	0.03702	0.013000	0.08279	-0.110000	0.10824	-0.243000	0.09653	0.655000	0.94253	CAG		0.602	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		T	98994252	G	T	98994252	3	4	253	1	0	0	0	0	1	0	0	0	3598	991	35	3	210	3	CNGA3	2	98994252	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10	27957768	98994252	144205121	13	13981											
LCT	3938	hgsc.bcm.edu	37	2	136575148	136575148	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr2:136575148C>A	ENST00000264162.2	-	6	1480	c.1470G>T	c.(1468-1470)gaG>gaT	p.E490D	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	490	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E490D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGGCCATGGGCTCGATGCCCG	0.627																																																1	Substitution - Missense(1)	ovary(1)	2											74	61	65					2																	136575148		2203	4300	6503	136291618	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1470G>T	2.37:g.136575148C>A	ENSP00000264162:p.Glu490Asp		136291618	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521620	0.27211	.	.	ENSG00000115850	ENST00000264162	T	0.55760	0.5	5.77	0.481	0.16809	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.447198	0.25119	N	0.032998	T	0.57315	0.2045	M	0.83384	2.64	0.34262	D	0.680062	B	0.31054	0.306	B	0.38985	0.287	T	0.64774	-0.6328	10	0.41790	T	0.15	-9.8147	10.8747	0.46904	0.0:0.516:0.0:0.484	.	490	P09848	LPH_HUMAN	D	490	ENSP00000264162:E490D	ENSP00000264162:E490D	E	-	3	2	LCT	136291618	0.284000	0.24287	0.508000	0.27688	0.246000	0.25737	0.084000	0.14891	0.095000	0.17434	-0.136000	0.14681	GAG		0.627	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136575148	C	A	136575148	3	1	253	1	0	0	0	0	1	0	0	0	8693	796	28	3	4361	3	LCT	2	136575148	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	37580896	136575148	106624225	14	13982											
MAN2B2	23324	hgsc.bcm.edu	37	4	6619181	6619181	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr4:6619181G>T	ENST00000285599.3	+	17	2812	c.2776G>T	c.(2776-2778)Gac>Tac	p.D926Y	MAN2B2_ENST00000504248.1_Missense_Mutation_p.D875Y	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	926					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.D926Y(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGTGGGCGAGGACCCAGTCCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	4											83	69	74					4																	6619181		2203	4300	6503	6670082	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2776G>T	4.37:g.6619181G>T	ENSP00000285599:p.Asp926Tyr		6670082	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.44|15.44	2.833149|2.833149	0.50951|0.50951	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	D;D|.	0.85171|.	-1.95;-1.95|.	4.88|4.88	1.26|1.26	0.21427|0.21427	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.056918|.	0.64402|.	D|.	0.000002|.	T|T	0.74238|0.74238	0.3690|0.3690	M|M	0.79926|0.79926	2.475|2.475	0.40114|0.40114	D|D	0.97652|0.97652	D;D;D|.	0.71674|.	0.996;0.998;0.991|.	D;D;P|.	0.68621|.	0.935;0.959;0.879|.	T|T	0.74822|0.74822	-0.3534|-0.3534	10|5	0.66056|.	D|.	0.02|.	-20.7711|-20.7711	15.2077|15.2077	0.73192|0.73192	0.0:0.5572:0.4428:0.0|0.0:0.5572:0.4428:0.0	.|.	875;926;926|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	Y|S	926;875|924	ENSP00000285599:D926Y;ENSP00000423129:D875Y|.	ENSP00000285599:D926Y|.	D|R	+|+	1|3	0|2	MAN2B2|MAN2B2	6670082|6670082	1.000000|1.000000	0.71417|0.71417	0.347000|0.347000	0.25668|0.25668	0.718000|0.718000	0.41266|0.41266	2.210000|2.210000	0.42816|0.42816	-0.152000|-0.152000	0.11156|0.11156	0.655000|0.655000	0.94253|0.94253	GAC|AGG		0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		T	6619181	G	T	6619181	3	4	253	1	0	0	0	0	1	0	0	0	9217	1174	41	3	2842	3	MAN2B2	4	6619181	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10		6619181	184535095	15	13983											
PDGFC	56034	hgsc.bcm.edu	37	4	157731997	157731997	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr4:157731997C>A	ENST00000502773.1	-	3	977	c.487G>T	c.(487-489)Gtc>Ttc	p.V163F	PDGFC_ENST00000422544.2_Missense_Mutation_p.V163F|PDGFC_ENST00000542208.1_5'UTR|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	163	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.V163F(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ACTGGCATGACAATGTTGTAG	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											89	91	90					4																	157731997		2203	4300	6503	157951447	SO:0001583	missense	56034			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.487G>T	4.37:g.157731997C>A	ENSP00000422464:p.Val163Phe		157951447	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545152	0.45280	.	.	ENSG00000145431	ENST00000502773;ENST00000422544	T;T	0.18657	2.26;2.2	5.18	2.3	0.28687	CUB (3);	0.342485	0.30732	N	0.008992	T	0.25195	0.0612	M	0.89715	3.055	0.80722	D	1	B	0.24823	0.112	B	0.21360	0.034	T	0.04976	-1.0914	10	0.18710	T	0.47	-7.907	5.9207	0.19080	0.0:0.4442:0.3526:0.2032	.	163	Q9NRA1	PDGFC_HUMAN	F	163	ENSP00000422464:V163F;ENSP00000410048:V163F	ENSP00000410048:V163F	V	-	1	0	PDGFC	157951447	0.995000	0.38212	0.046000	0.18839	0.995000	0.86356	2.267000	0.43329	1.294000	0.44707	0.563000	0.77884	GTC		0.333	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			A	157731997	C	A	157731997	3	1	253	1	0	0	0	0	1	0	0	0	11659	478	17	3	566	3	PDGFC	4	157731997	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	151112816	157731997	33422279	16	13984											
APC	324	hgsc.bcm.edu	37	5	112176619	112176619	+	Silent	SNP	A	A	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr5:112176619A>G	ENST00000457016.1	+	16	5708	c.5328A>G	c.(5326-5328)gtA>gtG	p.V1776V	APC_ENST00000508376.2_Silent_p.V1776V|APC_ENST00000257430.4_Silent_p.V1776V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1776	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)|p.V1776V(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTTCACCAGTAAAACCTATAC	0.358		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	3	Unknown(1)|Substitution - coding silent(1)|Deletion - Frameshift(1)	ovary(1)|soft_tissue(1)|skin(1)	5											40	41	40					5																	112176619		2202	4299	6501	112204518	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5328A>G	5.37:g.112176619A>G			112204518	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112176619	A	G	112176619	2	3	253	1	0	0	0	0	0	0	0	1	763	349	13	4		4	APC	5	112176619	Silent	SNP	A	TCGA-24-1567-01A-01W-0615-10		112176619	68738641	17	13985											
RAPGEF6	51735	hgsc.bcm.edu	37	5	130815373	130815373	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr5:130815373T>G	ENST00000509018.1	-	16	2119	c.1914A>C	c.(1912-1914)aaA>aaC	p.K638N	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.K638N|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.K638N|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.K638N|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.K688N|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.K353N|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.K638N|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.K638N	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	638					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.K688N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GATTACTTTTTTTTTCAGCAA	0.363																																					Melanoma(168;435 1955 13113 13877 23213)											1	Substitution - Missense(1)	ovary(1)	5											150	146	147					5																	130815373		2203	4300	6503	130843272	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1914A>C	5.37:g.130815373T>G	ENSP00000421684:p.Lys638Asn		130843272	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968234	0.74131	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.28069	1.79;1.69;1.7;1.79;1.64;1.63;2.17;1.88	5.91	2.31	0.28768	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	M	0.63843	1.955	0.80722	D	1	B;D;B;D;D;D;P	0.69078	0.415;0.984;0.365;0.974;0.974;0.997;0.621	B;P;B;P;P;D;B	0.66979	0.205;0.811;0.131;0.597;0.782;0.948;0.279	T	0.29397	-1.0013	10	0.59425	D	0.04	.	6.2526	0.20854	0.0:0.5496:0.0:0.4504	.	638;638;638;353;688;638;638	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	N	638;638;638;638;638;353;638;638;688	ENSP00000421684:K638N;ENSP00000309298:K638N;ENSP00000426081:K638N;ENSP00000296859:K638N;ENSP00000426910:K353N;ENSP00000311419:K638N;ENSP00000425389:K638N;ENSP00000426948:K688N	ENSP00000426948:K688N	K	-	3	2	RAPGEF6;FNIP1	130843272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.455000	0.35190	0.506000	0.28125	0.533000	0.62120	AAA		0.363	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		G	130815373	T	G	130815373	3	3	253	1	0	0	0	0	1	0	0	0	13051	1838	64	5	3429	5	RAPGEF6	5	130815373	Missense_Mutation	SNP	T	TCGA-24-1567-01A-01W-0615-10	18638754	130815373	50099887	18	13986											
PGBD1	84547	hgsc.bcm.edu	37	6	28269538	28269538	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr6:28269538T>G	ENST00000405948.2	+	7	2327	c.1907T>G	c.(1906-1908)tTg>tGg	p.L636W	PGBD1_ENST00000259883.3_Missense_Mutation_p.L636W	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	636						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L636W(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GTCAAATTGTTGTCAGCCTTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											117	114	115					6																	28269538		2203	4300	6503	28377517	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1907T>G	6.37:g.28269538T>G	ENSP00000385213:p.Leu636Trp		28377517	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095290	0.56075	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.19669	2.13;2.13	4.84	4.84	0.62591	.	1.035590	0.07743	N	0.947310	T	0.25306	0.0615	L	0.48642	1.525	0.27343	N	0.956454	D	0.59357	0.985	D	0.64687	0.928	T	0.14144	-1.0483	10	0.56958	D	0.05	-9.0839	11.0071	0.47641	0.0:0.0:0.0:1.0	.	636	Q96JS3	PGBD1_HUMAN	W	636	ENSP00000385213:L636W;ENSP00000259883:L636W	ENSP00000259883:L636W	L	+	2	0	PGBD1	28377517	0.951000	0.32395	0.801000	0.32222	0.753000	0.42808	4.339000	0.59322	2.167000	0.68274	0.533000	0.62120	TTG		0.403	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			G	28269538	T	G	28269538	3	3	253	1	0	0	0	0	1	0	0	0	11780	1821	63	5	1929	5	PGBD1	6	28269538	Missense_Mutation	SNP	T	TCGA-24-1567-01A-01W-0615-10		28269538	142845529	19	13987											
SEC63	11231	hgsc.bcm.edu	37	6	108246057	108246057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr6:108246057C>A	ENST00000369002.4	-	3	483	c.304G>T	c.(304-306)Gaa>Taa	p.E102*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	102					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.E102*(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GGATTGTATTCTTGGTATTCT	0.328																																																1	Substitution - Nonsense(1)	ovary(1)	6											134	133	133					6																	108246057		2203	4300	6503	108352750	SO:0001587	stop_gained	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.304G>T	6.37:g.108246057C>A	ENSP00000357998:p.Glu102*		108352750	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129994	0.94473	.	.	ENSG00000025796	ENST00000369002;ENST00000429168	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-22.3229	19.6307	0.95700	0.0:1.0:0.0:0.0	.	.	.	.	X	102;46	.	ENSP00000357998:E102X	E	-	1	0	SEC63	108352750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.645000	0.89757	0.585000	0.79938	GAA		0.328	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		A	108246057	C	A	108246057	4	1	253	1	0	0	0	0	0	1	0	0	14008	922	32	3	2054	3	SEC63	6	108246057	Nonsense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	79976519	108246057	62869010	20	13988											
MICAL1	64780	hgsc.bcm.edu	37	6	109766139	109766139	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr6:109766139T>G	ENST00000358807.3	-	23	3252	c.2941A>C	c.(2941-2943)Aaa>Caa	p.K981Q	MICAL1_ENST00000358577.3_Missense_Mutation_p.K895Q|MICAL1_ENST00000368952.4_Missense_Mutation_p.K1000Q	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	981				K -> N (in Ref. 3; BAB13949). {ECO:0000305}.	actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.K981Q(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGGCTGTTTTTCTTGTCAACG	0.567																																																1	Substitution - Missense(1)	ovary(1)	6											158	154	156					6																	109766139		2203	4300	6503	109872832	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2941A>C	6.37:g.109766139T>G	ENSP00000351664:p.Lys981Gln		109872832	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216620	0.79352	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.59224	0.28;0.28;0.28	5.85	5.85	0.93711	Domain of unknown function DUF3585 (1);	0.059818	0.64402	D	0.000005	T	0.76076	0.3937	M	0.91612	3.225	0.39292	D	0.964755	D;D;D	0.89917	0.993;1.0;0.993	D;D;D	0.83275	0.912;0.996;0.912	T	0.82729	-0.0313	10	0.87932	D	0	.	12.6221	0.56610	0.0:0.0:0.0:1.0	.	1000;895;981	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	Q	981;1000;895;505;237	ENSP00000351664:K981Q;ENSP00000357948:K1000Q;ENSP00000351385:K895Q	ENSP00000335372:K237Q	K	-	1	0	MICAL1	109872832	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.751000	0.68720	2.233000	0.73108	0.533000	0.62120	AAA		0.567	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		G	109766139	T	G	109766139	3	3	253	1	0	0	0	0	1	0	0	0	9569	1792	62	5	274	5	MICAL1	6	109766139	Missense_Mutation	SNP	T	TCGA-24-1567-01A-01W-0615-10	1520082	109766139	61348928	21	13989											
GTF2IRD1	9569	hgsc.bcm.edu	37	7	74005218	74005218	+	Silent	SNP	C	C	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr7:74005218C>T	ENST00000265755.3	+	24	2901	c.2508C>T	c.(2506-2508)gaC>gaT	p.D836D	GTF2IRD1_ENST00000424337.2_Silent_p.D821D|GTF2IRD1_ENST00000476977.1_Silent_p.D821D|GTF2IRD1_ENST00000455841.2_Silent_p.D853D	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	836					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D836D(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAGCCCAGACGCCGTGGAGG	0.602																																																2	Substitution - coding silent(2)	ovary(2)	7											61	55	57					7																	74005218		2203	4300	6503	73643154	SO:0001819	synonymous_variant	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2508C>T	7.37:g.74005218C>T			73643154	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	1.456	-0.563771	0.03939	.	.	ENSG00000006704	ENST00000470715	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.59418	0.2192	.	.	.	0.41778	D	0.989804	.	.	.	.	.	.	T	0.76865	-0.2801	4	.	.	.	-17.5779	15.5739	0.76359	0.0808:0.6979:0.0818:0.1395	.	.	.	.	C	199	.	.	R	+	1	0	GTF2IRD1	73643154	0.000000	0.05858	0.017000	0.16124	0.205000	0.24178	-3.385000	0.00489	-3.796000	0.00106	-2.069000	0.00389	CGC		0.602	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		T	74005218	C	T	74005218	2	4	253	1	0	0	0	0	0	0	0	1	6868	535	19	1		1	GTF2IRD1	7	74005218	Silent	SNP	C	TCGA-24-1567-01A-01W-0615-10		74005218	85133445	22	13990											
PDAP1	11333	hgsc.bcm.edu	37	7	99001069	99001069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr7:99001069delC	ENST00000350498.3	-	3	445	c.165delG	c.(163-165)aagfs	p.K56fs		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	56					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)	p.K56fs*3(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTAGAGATTTCTTCTCCTTTT	0.443																																																2	Deletion - Frameshift(2)	ovary(2)	7											187	160	169					7																	99001069		2203	4297	6500	98839005	SO:0001589	frameshift_variant	11333			U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"PDGF associated protein"	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.165delG	7.37:g.99001069delC	ENSP00000222968:p.Lys56fs		98839005	D6W5S5|Q92906	Frame_Shift_Del	DEL	ENST00000350498.3	37	CCDS5662.1																																																																																				0.443	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891		-	99001069	C	-	99001069	7	5	253	1	0	1	0	1	0	0	0	0	11613	912	32	0	396	0	PDAP1	7	99001069	Frame_Shift_Del	DEL	C	TCGA-24-1567-01A-01W-0615-10	24995851	99001069	60137594	23	13991											
SLC26A4	5172	hgsc.bcm.edu	37	7	107342393	107342393	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr7:107342393C>A	ENST00000265715.3	+	17	2149	c.1925C>A	c.(1924-1926)tCt>tAt	p.S642Y	SLC26A4_ENST00000544569.1_Missense_Mutation_p.S229Y|SLC26A4_ENST00000543100.1_Missense_Mutation_p.S211Y|SLC26A4_ENST00000541474.1_Missense_Mutation_p.S203Y	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	642	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.S642Y(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GATTGGAACTCTGAGCTTCCA	0.428									Pendred syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											127	112	117					7																	107342393		2203	4300	6503	107129629	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1925C>A	7.37:g.107342393C>A	ENSP00000265715:p.Ser642Tyr		107129629	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430812	0.83776	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95069	-3.27;-3.52;-3.58;-3.6	5.89	5.89	0.94794	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.000000	0.85682	D	0.000000	D	0.97114	0.9057	M	0.70595	2.14	0.51233	D	0.999915	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.972;0.985;0.99	D	0.96986	0.9718	10	0.66056	D	0.02	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	203;229;642	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Y	642;203;229;211	ENSP00000265715:S642Y;ENSP00000439743:S203Y;ENSP00000437427:S229Y;ENSP00000441209:S211Y	ENSP00000265715:S642Y	S	+	2	0	SLC26A4	107129629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.831000	0.75324	2.783000	0.95769	0.655000	0.94253	TCT		0.428	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		A	107342393	C	A	107342393	3	1	253	1	0	0	0	0	1	0	0	0	14522	913	32	3	1987	3	SLC26A4	7	107342393	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	8341324	107342393	51796270	24	13992											
DENND1A	57706	hgsc.bcm.edu	37	9	126392756	126392756	+	Splice_Site	SNP	C	C	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr9:126392756C>G	ENST00000373624.2	-	10	820		c.e10-1		DENND1A_ENST00000373620.3_Splice_Site|DENND1A_ENST00000394219.3_Splice_Site|DENND1A_ENST00000542603.1_Splice_Site|DENND1A_ENST00000394215.2_Splice_Site|DENND1A_ENST00000373618.1_Splice_Site|DENND1A_ENST00000473039.1_Splice_Site	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGGCAGTCAGCTGGAACAGAG	0.502																																																1	Unknown(1)	ovary(1)	9											29	26	27					9																	126392756		2202	4298	6500	125432577	SO:0001630	splice_region_variant	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.619-1G>C	9.37:g.126392756C>G			125432577	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Splice_Site	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363734	0.82353	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2509	0.90002	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND1A	125432577	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	7.631000	0.83237	2.536000	0.85505	0.655000	0.94253	.		0.502	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	Intron	G	126392756	C	G	126392756	5	3	253	1	0	0	0	0	0	0	1	0	4426	811	28	3	2570	3	DENND1A	9	126392756	Splice_Site	SNP	C	TCGA-24-1567-01A-01W-0615-10		126392756	14820675	25	13993											
FAM102A	399665	hgsc.bcm.edu	37	9	130716122	130716122	+	Silent	SNP	G	G	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr9:130716122G>A	ENST00000373095.1	-	2	604	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	77								p.L77L(1)		breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GGGTCCAGCAGGCCGGTGGCC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	9											99	100	99					9																	130716122		2203	4300	6503	129755943	SO:0001819	synonymous_variant	399665				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.229C>T	9.37:g.130716122G>A			129755943	A2A329|Q8TEL4	Silent	SNP	ENST00000373095.1	37	CCDS35150.1																																																																																				0.632	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			A	130716122	G	A	130716122	2	1	253	1	0	0	0	0	0	0	0	1	5382	991	35	2		2	FAM102A	9	130716122	Silent	SNP	G	TCGA-24-1567-01A-01W-0615-10	4323366	130716122	10497309	26	13994											
BMI1	648	hgsc.bcm.edu	37	10	22615464	22615464	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr10:22615464C>A	ENST00000376663.3	+	2	591	c.86C>A	c.(85-87)aCa>aAa	p.T29K	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.T172K	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	29					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)	p.T29K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ATTGATGCCACAACCATAATA	0.398																																																1	Substitution - Missense(1)	ovary(1)	10											228	201	210					10																	22615464		2203	4300	6503	22655470	SO:0001583	missense	648			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.86C>A	10.37:g.22615464C>A	ENSP00000365851:p.Thr29Lys		22655470	Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675642	0.88445	.	.	ENSG00000168283	ENST00000417470;ENST00000376691;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820;ENST00000443519	T;T;T;T	0.68025	0.97;0.97;0.97;-0.3	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	L	0.52823	1.66	0.80722	D	1	D;D	0.59767	0.986;0.975	D;D	0.70227	0.958;0.968	T	0.80271	-0.1452	10	0.87932	D	0	-16.1989	18.5442	0.91040	0.0:1.0:0.0:0.0	.	29;29	Q5U0M5;P35226	.;BMI1_HUMAN	K	29;13;29;29;29;29;6	ENSP00000365851:T29K;ENSP00000397912:T29K;ENSP00000399220:T29K;ENSP00000390768:T6K	ENSP00000365851:T29K	T	+	2	0	BMI1	22655470	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.991000	0.70602	2.689000	0.91719	0.650000	0.86243	ACA		0.398	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		A	22615464	C	A	22615464	3	1	253	1	0	0	0	0	1	0	0	0	1455	478	17	3	88	3	BMI1	10	22615464	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10		22615464	112919283	27	13995											
KIAA1217	56243	hgsc.bcm.edu	37	10	24832403	24832403	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr10:24832403G>T	ENST00000376454.3	+	19	4234	c.4204G>T	c.(4204-4206)Gat>Tat	p.D1402Y	KIAA1217_ENST00000376451.2_Missense_Mutation_p.D1085Y|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1402					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.D1402Y(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAGGTGCATGATATTGTTAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											91	90	91					10																	24832403		2203	4300	6503	24872409	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4204G>T	10.37:g.24832403G>T	ENSP00000365637:p.Asp1402Tyr		24872409	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308782	0.40895	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.35605	1.72;1.3	5.66	5.66	0.87406	.	0.172862	0.48767	D	0.000173	T	0.59918	0.2229	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.70935	0.971;0.971;0.939	T	0.60885	-0.7174	10	0.87932	D	0	.	19.7465	0.96253	0.0:0.0:1.0:0.0	.	1085;1085;1402	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	Y	1085;1402;1085;1085	ENSP00000365637:D1402Y;ENSP00000365634:D1085Y	ENSP00000365634:D1085Y	D	+	1	0	KIAA1217	24872409	1.000000	0.71417	0.086000	0.20670	0.015000	0.08874	7.503000	0.81632	2.680000	0.91292	0.561000	0.74099	GAT		0.458	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		T	24832403	G	T	24832403	3	4	253	1	0	0	0	0	1	0	0	0	8216	1290	45	3	4278	3	KIAA1217	10	24832403	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10	2216939	24832403	110702344	28	13996											
MYPN	84665	hgsc.bcm.edu	37	10	69926392	69926392	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr10:69926392G>C	ENST00000358913.5	+	10	2430	c.1942G>C	c.(1942-1944)Gag>Cag	p.E648Q	MYPN_ENST00000354393.2_Missense_Mutation_p.E373Q|MYPN_ENST00000540630.1_Missense_Mutation_p.E648Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	648					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.E648Q(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCCCGTGAAAGAGCCCCCTCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	10											38	38	38					10																	69926392		2203	4300	6503	69596398	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1942G>C	10.37:g.69926392G>C	ENSP00000351790:p.Glu648Gln		69596398	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877458	0.91664	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.61980	0.06;0.14;0.12	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.74881	2.28	0.54753	D	0.999987	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.79667	-0.1708	9	.	.	.	.	19.2596	0.93962	0.0:0.0:1.0:0.0	.	648;373;648	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	Q	373;373;648;648	ENSP00000346369:E373Q;ENSP00000351790:E648Q;ENSP00000441668:E648Q	.	E	+	1	0	MYPN	69596398	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.164000	0.94755	2.543000	0.85770	0.655000	0.94253	GAG		0.498	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		C	69926392	G	C	69926392	3	2	253	1	0	0	0	0	1	0	0	0	10098	943	33	3	1976	3	MYPN	10	69926392	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10	45093989	69926392	65608355	29	13997											
TTC18	118491	hgsc.bcm.edu	37	10	75114530	75114530	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr10:75114530T>C	ENST00000310715.3	-	2	145	c.25A>G	c.(25-27)Aga>Gga	p.R9G	TTC18_ENST00000340329.3_Missense_Mutation_p.R9G|TTC18_ENST00000401621.2_Missense_Mutation_p.R9G|TTC18_ENST00000394865.1_Missense_Mutation_p.R9G|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		9						extracellular vesicular exosome (GO:0070062)		p.R9G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGCACGAGTCTGCCTGCTGAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	10											137	103	114					10																	75114530		2203	4300	6503	74784536	SO:0001583	missense	118491																														ENST00000310715.3:c.25A>G	10.37:g.75114530T>C	ENSP00000310829:p.Arg9Gly		74784536	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	T	14.55	2.570288	0.45798	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865;ENST00000394862	T;T;T;T	0.48522	1.82;1.83;0.81;1.41	5.6	3.17	0.36434	.	0.751962	0.13469	N	0.385574	T	0.40498	0.1119	L	0.50333	1.59	0.09310	N	1	B	0.28713	0.22	B	0.21151	0.033	T	0.29792	-1.0000	10	0.72032	D	0.01	-2.489	9.7922	0.40713	0.0:0.0:0.3361:0.6639	.	9	Q5T0N1	TTC18_HUMAN	G	9	ENSP00000310829:R9G;ENSP00000384479:R9G;ENSP00000343650:R9G;ENSP00000378334:R9G	ENSP00000310829:R9G	R	-	1	2	TTC18	74784536	0.080000	0.21391	0.005000	0.12908	0.403000	0.30841	1.461000	0.35255	0.368000	0.24481	0.533000	0.62120	AGA		0.443	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	75114530	T	C	75114530	3	2	253	1	0	0	0	0	1	0	0	0	16685	1588	55	4	3448	4	TTC18	10	75114530	Missense_Mutation	SNP	T	TCGA-24-1567-01A-01W-0615-10	5188138	75114530	60420217	30	13998											
PDE6H	5149	hgsc.bcm.edu	37	12	15131081	15131081	+	Splice_Site	SNP	G	G	C			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr12:15131081G>C	ENST00000266395.2	+	2	240		c.e2+1			NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma						activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)	p.?(1)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10					Sildenafil(DB00203)|Vardenafil(DB00862)	GTGTGAAAGGGTAAGACCAAA	0.423																																																1	Unknown(1)	ovary(1)	12											54	50	52					12																	15131081		2203	4300	6503	15022348	SO:0001630	splice_region_variant	5149				CCDS8672.1	12p13	2008-03-18					3.1.4.17	"Phosphodiesterases"	8790	protein-coding gene	gene with protein product		601190				8786098	Standard	NM_006205		Approved		uc001rcr.3	Q13956		ENST00000266395.2:c.134+1G>C	12.37:g.15131081G>C			15022348	Q52LY7	Splice_Site	SNP	ENST00000266395.2	37	CCDS8672.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248441	0.80024	.	.	ENSG00000139053	ENST00000266395	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2338	0.82360	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE6H	15022348	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.107000	0.94261	2.686000	0.91538	0.655000	0.94253	.		0.423	PDE6H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400880.1		Intron	C	15131081	G	C	15131081	5	2	253	1	0	0	0	0	0	0	1	0	11650	1275	44	3	137	3	PDE6H	12	15131081	Splice_Site	SNP	G	TCGA-24-1567-01A-01W-0615-10		15131081	118720814	31	13999											
PPHLN1	51535	hgsc.bcm.edu	37	12	42729719	42729719	+	Silent	SNP	A	A	C			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr12:42729719A>C	ENST00000395568.2	+	2	99	c.15A>C	c.(13-15)ggA>ggC	p.G5G	PPHLN1_ENST00000449194.2_Silent_p.G5G|PPHLN1_ENST00000552761.1_Silent_p.G12G|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000549190.1_Silent_p.G23G|PPHLN1_ENST00000395580.3_Silent_p.G12G|PPHLN1_ENST00000317560.9_Silent_p.G12G|PPHLN1_ENST00000337898.6_Silent_p.G5G|PPHLN1_ENST00000432191.2_Silent_p.G5G|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_Silent_p.G5G	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	5					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G5G(1)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GGTCTGAGGGACGATATGAAT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	12											132	134	133					12																	42729719		2203	4300	6503	41015986	SO:0001819	synonymous_variant	51535			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.15A>C	12.37:g.42729719A>C			41015986	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	CCDS31777.1																																																																																				0.378	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		C	42729719	A	C	42729719	2	2	253	1	0	0	0	0	0	0	0	1	12315	262	10	5		5	PPHLN1	12	42729719	Silent	SNP	A	TCGA-24-1567-01A-01W-0615-10	27598638	42729719	91122176	32	14000											
RND1	27289	hgsc.bcm.edu	37	12	49259510	49259510	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr12:49259510C>A	ENST00000309739.5	-	1	171	c.41G>T	c.(40-42)tGt>tTt	p.C14F		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	14					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.C14F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						AACGAGCTTACATCTGGCCAC	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											100	82	88					12																	49259510		2203	4300	6503	47545777	SO:0001583	missense	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.41G>T	12.37:g.49259510C>A	ENSP00000308461:p.Cys14Phe		47545777	A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216028	0.79352	.	.	ENSG00000172602	ENST00000309739	T	0.67523	-0.27	4.94	4.94	0.65067	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	N	0.04090	-0.28	0.80722	D	1	D	0.65815	0.995	D	0.74674	0.984	T	0.74349	-0.3694	10	0.59425	D	0.04	-3.3364	17.5205	0.87786	0.0:1.0:0.0:0.0	.	14	Q92730	RND1_HUMAN	F	14	ENSP00000308461:C14F	ENSP00000308461:C14F	C	-	2	0	RND1	47545777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.958000	0.76025	2.753000	0.94483	0.650000	0.86243	TGT		0.617	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470		A	49259510	C	A	49259510	3	1	253	1	0	0	0	0	1	0	0	0	13422	478	17	3	677	3	RND1	12	49259510	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	6529791	49259510	84592385	33	14001											
C14orf148	122945	hgsc.bcm.edu	37	14	77880459	77880459	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr14:77880459T>A	ENST00000380835.2	-	2	333	c.167A>T	c.(166-168)aAt>aTt	p.N56I	FKSG61_ENST00000595520.1_5'Flank|NOXRED1_ENST00000298358.3_Missense_Mutation_p.N56I	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	56					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.N56I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						TTGATTCTTATTTAATGATGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	14											63	59	60					14																	77880459		2203	4300	6503	76950212	SO:0001583	missense	122945			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.167A>T	14.37:g.77880459T>A	ENSP00000370215:p.Asn56Ile		76950212	B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.431063	0.25726	.	.	ENSG00000165555	ENST00000380835;ENST00000298358;ENST00000555603	T;T;T	0.55413	0.54;0.52;0.55	5.34	-4.04	0.04010	.	2.283350	0.01159	N	0.006607	T	0.22475	0.0542	N	0.03608	-0.345	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.06405	0.001;0.002	T	0.06356	-1.0831	10	0.17832	T	0.49	2.59	0.5164	0.00604	0.2901:0.296:0.1488:0.2651	.	56;56	Q6NXP6-2;Q6NXP6	.;NXRD1_HUMAN	I	56	ENSP00000370215:N56I;ENSP00000298358:N56I;ENSP00000450597:N56I	ENSP00000298358:N56I	N	-	2	0	C14orf148	76950212	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.187000	0.09656	-0.502000	0.06596	0.460000	0.39030	AAT		0.393	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		A	77880459	T	A	77880459	3	1	253	1	0	0	0	0	1	0	0	0	1751	1493	52	5	1001	5	C14orf148	14	77880459	Missense_Mutation	SNP	T	TCGA-24-1567-01A-01W-0615-10		77880459	29469081	34	14002											
KIAA1409	57578	hgsc.bcm.edu	37	14	94063746	94063746	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr14:94063746T>C	ENST00000393151.2	+	24	3232	c.3232T>C	c.(3232-3234)Tca>Cca	p.S1078P	UNC79_ENST00000553484.1_Missense_Mutation_p.S1078P|UNC79_ENST00000555664.1_Missense_Mutation_p.S1078P|UNC79_ENST00000256339.4_Missense_Mutation_p.S901P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1078					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S901P(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGATATTCACTCAGTAACCAA	0.468																																																1	Substitution - Missense(1)	ovary(1)	14											131	114	120					14																	94063746		2203	4300	6503	93133499	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3232T>C	14.37:g.94063746T>C	ENSP00000376858:p.Ser1078Pro		93133499	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	T	9.835	1.189363	0.21954	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.84	4.67	0.58626	.	0.138072	0.49916	D	0.000134	T	0.16300	0.0392	N	0.01352	-0.895	0.41614	D	0.988928	P	0.45827	0.867	P	0.49829	0.623	T	0.20605	-1.0270	10	0.14656	T	0.56	-6.5975	13.0067	0.58710	0.0:0.0:0.1349:0.8651	.	1078	C9JQL1	.	P	901;1078;1078;1078;1078	ENSP00000256339:S901P;ENSP00000450868:S1078P;ENSP00000451360:S1078P;ENSP00000376858:S1078P	ENSP00000256339:S901P	S	+	1	0	KIAA1409	93133499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.267000	0.58877	1.002000	0.39104	0.528000	0.53228	TCA		0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94063746	T	C	94063746	3	2	253	1	0	0	0	0	1	0	0	0	8230	1551	54	4	2783	4	KIAA1409	14	94063746	Missense_Mutation	SNP	T	TCGA-24-1567-01A-01W-0615-10	16183287	94063746	13285794	35	14003											
DMXL2	23312	hgsc.bcm.edu	37	15	51791851	51791851	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr15:51791851A>T	ENST00000251076.5	-	18	3857	c.3570T>A	c.(3568-3570)aaT>aaA	p.N1190K	DMXL2_ENST00000543779.2_Missense_Mutation_p.N1190K|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1190						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.N1190K(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACATGAAGATATTCGCACCGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	15											83	75	78					15																	51791851		2195	4293	6488	49579143	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3570T>A	15.37:g.51791851A>T	ENSP00000251076:p.Asn1190Lys		49579143	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	5.122	0.208097	0.09704	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.18502	2.21;2.21	5.24	1.59	0.23543	.	0.085770	0.85682	D	0.000000	T	0.09247	0.0228	N	0.05534	-0.03	0.80722	D	1	B;D	0.57899	0.28;0.981	B;P	0.50082	0.075;0.63	T	0.14811	-1.0459	10	0.02654	T	1	.	9.6225	0.39730	0.6558:0.0:0.3442:0.0	.	1190;1190	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	K	1190	ENSP00000251076:N1190K;ENSP00000441858:N1190K	ENSP00000251076:N1190K	N	-	3	2	DMXL2	49579143	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.019000	0.30014	0.327000	0.23409	0.482000	0.46254	AAT		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51791851	A	T	51791851	3	4	253	1	0	0	0	0	1	0	0	0	4595	446	16	5	5647	5	DMXL2	15	51791851	Missense_Mutation	SNP	A	TCGA-24-1567-01A-01W-0615-10		51791851	50739541	36	14004											
TMED6	146456	hgsc.bcm.edu	37	16	69377331	69377331	+	Silent	SNP	A	A	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr16:69377331A>G	ENST00000288025.3	-	4	757	c.702T>C	c.(700-702)gaT>gaC	p.D234D	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	234					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.D234D(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						GCTTCTTTGTATCTGTAGTTG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	16											113	109	110					16																	69377331		2198	4300	6498	67934832	SO:0001819	synonymous_variant	146456			BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.702T>C	16.37:g.69377331A>G			67934832	Q6UXN5	Silent	SNP	ENST00000288025.3	37	CCDS10878.1																																																																																				0.428	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		G	69377331	A	G	69377331	2	3	253	1	0	0	0	0	0	0	0	1	16008	446	16	4		4	TMED6	16	69377331	Silent	SNP	A	TCGA-24-1567-01A-01W-0615-10		69377331	20977422	37	14005											
ST3GAL2	6483	hgsc.bcm.edu	37	16	70417119	70417119	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr16:70417119A>G	ENST00000393640.4	-	4	2840	c.733T>C	c.(733-735)Tcc>Ccc	p.S245P	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.S245P			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	245					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.S245A(1)|p.S245P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CGAAGGAAGGACTTCACTGGG	0.527																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	16											86	80	82					16																	70417119		2198	4300	6498	68974620	SO:0001583	missense	6483			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"Sialyltransferases"	10863	protein-coding gene	gene with protein product		607188	"sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.733T>C	16.37:g.70417119A>G	ENSP00000377257:p.Ser245Pro		68974620	O00654	Missense_Mutation	SNP	ENST00000393640.4	37	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915477	0.33815	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.30981	1.51;1.51	4.72	4.72	0.59763	.	0.177421	0.51477	D	0.000083	T	0.15478	0.0373	N	0.17379	0.485	0.33877	D	0.635704	B	0.06786	0.001	B	0.09377	0.004	T	0.13710	-1.0499	10	0.29301	T	0.29	-9.9266	3.9268	0.09267	0.6571:0.2088:0.1341:0.0	.	245	Q16842	SIA4B_HUMAN	P	245	ENSP00000345477:S245P;ENSP00000377257:S245P	ENSP00000345477:S245P	S	-	1	0	ST3GAL2	68974620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.628000	0.61282	2.004000	0.58718	0.528000	0.53228	TCC		0.527	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		G	70417119	A	G	70417119	3	3	253	1	0	0	0	0	1	0	0	0	15217	275	10	4	331	4	ST3GAL2	16	70417119	Missense_Mutation	SNP	A	TCGA-24-1567-01A-01W-0615-10	1039788	70417119	19937634	38	14006											
TP53	7157	hgsc.bcm.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	17	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	7517819	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		7517819	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	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	253	1	0	0	0	0	1	0	0	0	16381	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10		7577094	73618116	39	14007											
LAMA1	284217	hgsc.bcm.edu	37	18	6986307	6986307	+	Silent	SNP	G	G	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr18:6986307G>A	ENST00000389658.3	-	37	5301	c.5208C>T	c.(5206-5208)taC>taT	p.Y1736Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1736	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.Y1736Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCGGCTTCTGGTAATTTTCCT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	18											83	79	80					18																	6986307		2203	4300	6503	6976307	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5208C>T	18.37:g.6986307G>A			6976307		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6986307	G	A	6986307	2	1	253	1	0	0	0	0	0	0	0	1	8605	1256	44	2		2	LAMA1	18	6986307	Silent	SNP	G	TCGA-24-1567-01A-01W-0615-10		6986307	71090941	40	14008											
SARS2	54938	hgsc.bcm.edu	37	19	39421226	39421226	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr19:39421226C>A	ENST00000221431.6	-	1	310	c.151G>T	c.(151-153)Ggc>Tgc	p.G51C	SARS2_ENST00000430193.3_Missense_Mutation_p.G51C|SARS2_ENST00000594171.1_5'Flank|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.G51C|SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000402029.3_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	51					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)	p.G51C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCGCTGTAGCCCTCGCGCGCA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	19											96	83	88					19																	39421226		2203	4300	6503	44113066	SO:0001583	missense	54938			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.151G>T	19.37:g.39421226C>A	ENSP00000221431:p.Gly51Cys	885	44113066	A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451009	0.84209	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.57752	0.38;0.38;0.63	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	M	0.73598	2.24	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.966	T	0.76271	-0.3020	9	0.87932	D	0	.	15.093	0.72211	0.0:1.0:0.0:0.0	.	51;51;51	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	C	51	ENSP00000406754:G51C;ENSP00000221431:G51C;ENSP00000414954:G51C	ENSP00000221431:G51C	G	-	1	0	FBXO17	44113066	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	5.354000	0.66040	2.941000	0.99782	0.655000	0.94253	GGC		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		A	39421226	C	A	39421226	3	1	253	1	0	0	0	0	1	0	0	0	13848	623	22	3	1550	3	SARS2	19	39421226	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10		39421226	19707757	41	14009											
MAP3K10	4294	hgsc.bcm.edu	37	19	40704297	40704297	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr19:40704297C>A	ENST00000253055.3	+	2	986	c.698C>A	c.(697-699)gCc>gAc	p.A233D	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.A233D(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ATCCTGGAGGCCATCGAGAAC	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											87	74	78					19																	40704297		2203	4300	6503	45396137	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.698C>A	19.37:g.40704297C>A	ENSP00000253055:p.Ala233Asp		45396137	Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296109	0.60086	.	.	ENSG00000130758	ENST00000253055	T	0.74737	-0.87	5.08	3.96	0.45880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.194452	0.44483	D	0.000441	T	0.57140	0.2033	N	0.04116	-0.275	0.38770	D	0.954532	P	0.35139	0.486	B	0.43082	0.407	T	0.61083	-0.7134	10	0.35671	T	0.21	.	10.3602	0.43989	0.3099:0.6901:0.0:0.0	.	233	Q02779	M3K10_HUMAN	D	233	ENSP00000253055:A233D	ENSP00000253055:A233D	A	+	2	0	MAP3K10	45396137	0.973000	0.33851	1.000000	0.80357	0.960000	0.62799	1.013000	0.29937	2.549000	0.85964	0.306000	0.20318	GCC		0.632	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		A	40704297	C	A	40704297	3	1	253	1	0	0	0	0	1	0	0	0	9244	739	26	3	704	3	MAP3K10	19	40704297	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	1283071	40704297	18424686	42	14010											
GPR4	2828	hgsc.bcm.edu	37	19	46094160	46094160	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr19:46094160G>T	ENST00000323040.4	-	2	1909	c.965C>A	c.(964-966)aCc>aAc	p.T322N	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	322					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T322N(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGTCTCCAGGGTGAGCGAGGC	0.667																																					Esophageal Squamous(117;181 1612 1673 14956 42937)											1	Substitution - Missense(1)	ovary(1)	19											94	85	88					19																	46094160		2203	4300	6503	50786000	SO:0001583	missense	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.965C>A	19.37:g.46094160G>T	ENSP00000319744:p.Thr322Asn		50786000	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787343	0.70337	.	.	ENSG00000177464	ENST00000323040	T	0.61859	0.07	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.47248	0.1435	N	0.08118	0	0.46823	D	0.999213	D	0.67145	0.996	P	0.53649	0.731	T	0.49579	-0.8925	10	0.37606	T	0.19	.	12.6317	0.56661	0.0:0.0:1.0:0.0	.	322	P46093	GPR4_HUMAN	N	322	ENSP00000319744:T322N	ENSP00000319744:T322N	T	-	2	0	GPR4	50786000	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.903000	0.75703	2.356000	0.79943	0.455000	0.32223	ACC		0.667	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		T	46094160	G	T	46094160	3	4	253	1	0	0	0	0	1	0	0	0	6694	1261	44	3	127	3	GPR4	19	46094160	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10	5389863	46094160	13034823	43	14011											
SNPH	9751	hgsc.bcm.edu	37	20	1277867	1277867	+	Nonsense_Mutation	SNP	C	C	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr20:1277867C>G	ENST00000381873.3	+	4	365	c.129C>G	c.(127-129)taC>taG	p.Y43*	SNPH_ENST00000381867.1_Nonsense_Mutation_p.Y87*	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	43					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.Y43*(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGGCTCCTACAAGGGCAGTG	0.627																																																1	Substitution - Nonsense(1)	ovary(1)	20											57	43	47					20																	1277867		2203	4300	6503	1225867	SO:0001587	stop_gained	9751				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.129C>G	20.37:g.1277867C>G	ENSP00000371297:p.Tyr43*		1225867	Q8IYI3	Nonsense_Mutation	SNP	ENST00000381873.3	37	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	35	5.471279	0.96274	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	5.03	4.02	0.46733	.	0.286322	0.33875	N	0.004475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-9.1565	14.0266	0.64590	0.0:0.916:0.0:0.084	.	.	.	.	X	43;87	.	ENSP00000371291:Y87X	Y	+	3	2	SNPH	1225867	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.747000	0.55134	2.608000	0.88229	0.655000	0.94253	TAC		0.627	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		G	1277867	C	G	1277867	4	3	253	1	0	0	0	0	0	1	0	0	14853	489	17	3	135	3	SNPH	20	1277867	Nonsense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10		1277867	61747653	44	14012											
SLC23A2	9962	hgsc.bcm.edu	37	20	4837800	4837800	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr20:4837800C>G	ENST00000379333.1	-	17	2163	c.1771G>C	c.(1771-1773)Ggg>Cgg	p.G591R	SLC23A2_ENST00000338244.1_Missense_Mutation_p.G591R|SLC23A2_ENST00000424750.2_Missense_Mutation_p.G477R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	591					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.G591R(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GATTTGTTCCCTTTGCCCACA	0.453																																																1	Substitution - Missense(1)	ovary(1)	20											213	190	198					20																	4837800		2203	4300	6503	4785800	SO:0001583	missense	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1771G>C	20.37:g.4837800C>G	ENSP00000368637:p.Gly591Arg		4785800	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202086	0.38905	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.17691	2.26;2.26;2.28	5.6	5.6	0.85130	.	0.052292	0.85682	D	0.000000	T	0.16896	0.0406	N	0.12637	0.245	0.80722	D	1	P;B	0.48162	0.906;0.001	P;B	0.49752	0.621;0.003	T	0.07578	-1.0765	10	0.27082	T	0.32	-12.8276	18.1739	0.89756	0.0:1.0:0.0:0.0	.	477;591	B4DJZ1;Q9UGH3	.;S23A2_HUMAN	R	591;591;477	ENSP00000368637:G591R;ENSP00000344322:G591R;ENSP00000406601:G477R	ENSP00000344322:G591R	G	-	1	0	SLC23A2	4785800	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	5.347000	0.65998	2.642000	0.89623	0.563000	0.77884	GGG		0.453	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			G	4837800	C	G	4837800	3	3	253	1	0	0	0	0	1	0	0	0	14466	681	24	3	185	3	SLC23A2	20	4837800	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	3559933	4837800	58187720	45	14013											
XRN2	22803	hgsc.bcm.edu	37	20	21336789	21336789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chr20:21336789G>T	ENST00000377191.3	+	22	2187	c.2092G>T	c.(2092-2094)Gag>Tag	p.E698*	XRN2_ENST00000539513.1_Nonsense_Mutation_p.E644*|XRN2_ENST00000430571.2_Nonsense_Mutation_p.E622*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	698					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E698*(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CTTCATTTTAGAGCTGTACCA	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	20											128	121	123					20																	21336789		2203	4300	6503	21284789	SO:0001587	stop_gained	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2092G>T	20.37:g.21336789G>T	ENSP00000366396:p.Glu698*		21284789	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	40	8.284543	0.98742	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.93	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-15.2059	17.2228	0.86962	0.0:0.1259:0.8741:0.0	.	.	.	.	X	698;622;644	.	ENSP00000366396:E698X	E	+	1	0	XRN2	21284789	1.000000	0.71417	0.934000	0.37439	0.991000	0.79684	7.561000	0.82288	1.495000	0.48549	0.591000	0.81541	GAG		0.363	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		T	21336789	G	T	21336789	4	4	253	1	0	0	0	0	0	1	0	0	17460	943	33	3	2178	3	XRN2	20	21336789	Nonsense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10	16498989	21336789	41688731	46	14014											
KAL1	3730	hgsc.bcm.edu	37	X	8555963	8555963	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chrX:8555963G>T	ENST00000262648.3	-	5	747	c.598C>A	c.(598-600)Ctg>Atg	p.L200M		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	200	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L200M(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TTAACCTCCAGCTGTCCAGAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	X											82	69	73					X																	8555963		2203	4300	6503	8515963	SO:0001583	missense	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.598C>A	X.37:g.8555963G>T	ENSP00000262648:p.Leu200Met		8515963	B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964037	0.53507	.	.	ENSG00000011201	ENST00000262648	T	0.58358	0.34	4.05	3.13	0.36017	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.67664	0.2917	M	0.67953	2.075	0.46028	D	0.998825	D	0.89917	1.0	D	0.97110	1.0	T	0.71290	-0.4637	10	0.72032	D	0.01	.	11.5453	0.50690	0.0:0.0:0.8213:0.1787	.	200	P23352	KALM_HUMAN	M	200	ENSP00000262648:L200M	ENSP00000262648:L200M	L	-	1	2	KAL1	8515963	1.000000	0.71417	0.908000	0.35775	0.970000	0.65996	4.409000	0.59768	1.633000	0.50488	0.600000	0.82982	CTG		0.428	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		T	8555963	G	T	8555963	3	4	253	1	0	0	0	0	1	0	0	0	7974	962	34	3	1484	3	KAL1	23	8555963	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10		8555963	146714597	47	14015											
RNF128	79589	hgsc.bcm.edu	37	X	106034427	106034427	+	Silent	SNP	A	A	G			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chrX:106034427A>G	ENST00000255499.2	+	6	1366	c.1116A>G	c.(1114-1116)acA>acG	p.T372T	RNF128_ENST00000324342.3_Silent_p.T346T	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	372					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T372T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TACAGGGAACAGATGAACCGC	0.453																																																1	Substitution - coding silent(1)	ovary(1)	X											191	169	176					X																	106034427		2203	4300	6503	105921083	SO:0001819	synonymous_variant	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.1116A>G	X.37:g.106034427A>G			105921083	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	CCDS14521.1																																																																																				0.453	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		G	106034427	A	G	106034427	2	3	253	1	0	0	0	0	0	0	0	1	13439	175	7	4		4	RNF128	23	106034427	Silent	SNP	A	TCGA-24-1567-01A-01W-0615-10	97478464	106034427	49236133	48	14016											
ODZ1	10178	hgsc.bcm.edu	37	X	123517633	123517633	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chrX:123517633C>T	ENST00000371130.3	-	29	7190	c.7127G>A	c.(7126-7128)aGg>aAg	p.R2376K	TENM1_ENST00000422452.2_Missense_Mutation_p.R2383K|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2376					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2378K(1)									ATCATAATCCCTTTGCCCCAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											138	130	132					X																	123517633		2203	4300	6503	123345314	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7127G>A	X.37:g.123517633C>T	ENSP00000360171:p.Arg2376Lys		123345314	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043921	0.75732	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.92149	-2.98;-2.94	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.79011	2.435	0.58432	D	0.999997	D;D;B	0.64830	0.982;0.994;0.287	D;D;B	0.70716	0.952;0.97;0.085	D	0.95608	0.8669	10	0.49607	T	0.09	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	2382;2383;2376	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	2376;2383	ENSP00000360171:R2376K;ENSP00000403954:R2383K	ENSP00000360171:R2376K	R	-	2	0	ODZ1	123345314	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.050000	0.71063	2.471000	0.83476	0.600000	0.82982	AGG		0.418	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123517633	C	T	123517633	3	4	253	1	0	0	0	0	1	0	0	0	10834	681	24	2	1062	2	ODZ1	23	123517633	Missense_Mutation	SNP	C	TCGA-24-1567-01A-01W-0615-10	17483206	123517633	31752927	49	14017											
HTATSF1	27336	hgsc.bcm.edu	37	X	135579862	135579862	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1567-01A-01W-0615-10	TCGA-24-1567-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	de46c81d-93cb-458b-a745-a54d346a5981	d2d268b0-6174-488b-a18b-cbba452158a2	g.chrX:135579862G>C	ENST00000218364.4	+	1	193	c.19G>C	c.(19-21)Gat>Cat	p.D7H	HTATSF1_ENST00000535601.1_Missense_Mutation_p.D7H	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	7					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D7H(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CACCAACTTGGATGGGAACGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	X											149	137	141					X																	135579862		2203	4300	6503	135407528	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.19G>C	X.37:g.135579862G>C	ENSP00000218364:p.Asp7His		135407528	D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440751	0.43326	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.27557	1.66;1.66	4.86	0.866	0.19079	.	0.562177	0.19447	N	0.114039	T	0.36991	0.0987	L	0.58101	1.795	0.09310	N	1	D	0.57571	0.98	P	0.52710	0.707	T	0.20706	-1.0267	10	0.72032	D	0.01	-1.9364	7.842	0.29403	0.501:0.0:0.499:0.0	.	7	O43719	HTSF1_HUMAN	H	7	ENSP00000442699:D7H;ENSP00000218364:D7H	ENSP00000218364:D7H	D	+	1	0	HTATSF1	135407528	0.432000	0.25554	0.243000	0.24186	0.495000	0.33615	1.588000	0.36633	-0.138000	0.11434	0.292000	0.19580	GAT		0.542	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		C	135579862	G	C	135579862	3	2	253	1	0	0	0	0	1	0	0	0	7433	1174	41	3	21	3	HTATSF1	23	135579862	Missense_Mutation	SNP	G	TCGA-24-1567-01A-01W-0615-10	12062229	135579862	19690698	50	14018											
AKNAD1	254268	broad.mit.edu	37	1	109394991	109394991	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr1:109394991G>A	ENST00000370001.3	-	2	564	c.296C>T	c.(295-297)gCa>gTa	p.A99V	AKNAD1_ENST00000369995.3_Missense_Mutation_p.A99V|AKNAD1_ENST00000369994.1_Missense_Mutation_p.A99V|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	99						cytoplasm (GO:0005737)		p.A99V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCTTCATTTGCTGGAATATG	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											109	107	108					1																	109394991		2203	4300	6503	109196514	SO:0001583	missense	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.296C>T	1.37:g.109394991G>A	ENSP00000359018:p.Ala99Val		109196514	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489642	0.26686	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.10099	2.94;2.95;2.91	5.77	1.13	0.20643	.	0.696518	0.13914	N	0.354005	T	0.03178	0.0093	L	0.50333	1.59	0.09310	N	1	B	0.30406	0.278	B	0.30179	0.112	T	0.37979	-0.9682	10	0.42905	T	0.14	-2.286	4.6999	0.12822	0.0767:0.1106:0.3787:0.434	.	99	Q5T1N1	AKND1_HUMAN	V	99	ENSP00000359018:A99V;ENSP00000359011:A99V;ENSP00000359012:A99V	ENSP00000359011:A99V	A	-	2	0	AKNAD1	109196514	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.072000	0.14617	0.710000	0.31997	0.655000	0.94253	GCA		0.393	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		A	109394991	G	A	109394991	3	1	254	1	0	0	0	0	1	0	0	0	464	1319	46	2	2274	2	AKNAD1	1	109394991	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08		109394991	139855630	1	14019											
CHRM3	1131	broad.mit.edu	37	1	240071232	240071232	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr1:240071232G>T	ENST00000255380.4	+	5	1260	c.481G>T	c.(481-483)Gtc>Ttc	p.V161F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	161					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.V161F(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAATCTTCTGGTCATCAGCTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											109	108	109					1																	240071232		2203	4300	6503	238137855	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.481G>T	1.37:g.240071232G>T	ENSP00000255380:p.Val161Phe		238137855	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495507	0.85069	.	.	ENSG00000133019	ENST00000255380	T	0.29655	1.56	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51060	-0.8753	10	0.87932	D	0	-34.57	20.2789	0.98501	0.0:0.0:1.0:0.0	.	161	P20309	ACM3_HUMAN	F	161	ENSP00000255380:V161F	ENSP00000255380:V161F	V	+	1	0	CHRM3	238137855	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	GTC		0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		T	240071232	G	T	240071232	3	4	254	1	0	0	0	0	1	0	0	0	3378	1261	44	3	483	3	CHRM3	1	240071232	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08	130676241	240071232	9179389	2	14020											
ITPRIPL1	150771	broad.mit.edu	37	2	96992716	96992716	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr2:96992716G>T	ENST00000439118.2	+	3	598	c.347G>T	c.(346-348)gGc>gTc	p.G116V	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.G108V|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.G108V|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.G124V	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	116						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G124V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGAACACTGGCCTCTTTTGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											116	124	121					2																	96992716		2203	4300	6503	96356443	SO:0001583	missense	150771				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.347G>T	2.37:g.96992716G>T	ENSP00000389308:p.Gly116Val		96356443	F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	CCDS46360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.626|6.626	0.483898|0.483898	0.12581|0.12581	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000420728|ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	.|T;T;T;T	.|0.15256	.|2.45;2.44;2.44;2.45	5.04|5.04	4.15|4.15	0.48705|0.48705	.|.	.|0.000000	.|0.38548	.|N	.|0.001652	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B	.|0.15141	.|0.012;0.007	.|B;B	.|0.22601	.|0.04;0.018	T|T	0.13872|0.13872	-1.0493|-1.0493	5|10	.|0.13853	.|T	.|0.58	-15.9713|-15.9713	12.4784|12.4784	0.55827|0.55827	0.0:0.0:0.8315:0.1685|0.0:0.0:0.8315:0.1685	.|.	.|124;116	.|Q6GPH6-2;Q6GPH6	.|.;IPIL1_HUMAN	S|V	148|108;108;116;124;108	.|ENSP00000439566:G108V;ENSP00000389308:G116V;ENSP00000355121:G124V;ENSP00000438212:G108V	.|ENSP00000355121:G124V	A|G	+|+	1|2	0|0	ITPRIPL1|ITPRIPL1	96356443|96356443	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.423000|0.423000	0.31445|0.31445	4.634000|4.634000	0.61325|0.61325	1.325000|1.325000	0.45301|0.45301	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.572	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		T	96992716	G	T	96992716	3	4	254	1	0	0	0	0	1	0	0	0	7924	1203	42	3	387	3	ITPRIPL1	2	96992716	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08		96992716	146206657	3	14021											
CACNB4	785	broad.mit.edu	37	2	152695844	152695844	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr2:152695844T>A	ENST00000539935.1	-	14	1419	c.1352A>T	c.(1351-1353)gAa>gTa	p.E451V	CACNB4_ENST00000397327.2_Missense_Mutation_p.E404V|CACNB4_ENST00000427385.1_Missense_Mutation_p.E433V|CACNB4_ENST00000534999.1_Missense_Mutation_p.E417V|CACNB4_ENST00000201943.5_Missense_Mutation_p.E389V|CACNB4_ENST00000360283.6_Missense_Mutation_p.E418V	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	451					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.E451V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTTCGTCTTTCAATTGGAGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											109	113	112					2																	152695844		2095	4249	6344	152404090	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1352A>T	2.37:g.152695844T>A	ENSP00000438949:p.Glu451Val		152404090	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668613	0.67814	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;D	0.82619	-0.84;-0.83;-0.85;-0.82;-0.83;-0.84;-1.63	5.17	5.17	0.71159	.	0.108012	0.64402	D	0.000007	D	0.89770	0.6811	M	0.70275	2.135	0.80722	D	1	D;P;B;B	0.57899	0.981;0.546;0.321;0.449	D;B;B;B	0.67231	0.95;0.205;0.136;0.265	D	0.90935	0.4793	10	0.72032	D	0.01	-8.0402	14.9952	0.71425	0.0:0.0:0.0:1.0	.	389;451;433;417	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	V	451;418;346;446;417;404;433;389;452	ENSP00000438949:E451V;ENSP00000353425:E418V;ENSP00000390161:E446V;ENSP00000443893:E417V;ENSP00000380490:E404V;ENSP00000410978:E433V;ENSP00000201943:E389V	ENSP00000201943:E389V	E	-	2	0	CACNB4	152404090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.624000	0.83124	1.943000	0.56356	0.377000	0.23210	GAA		0.408	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		A	152695844	T	A	152695844	3	1	254	1	0	0	0	0	1	0	0	0	2555	1783	62	5	214	5	CACNB4	2	152695844	Missense_Mutation	SNP	T	TCGA-24-1603-01A-01W-0551-08	55703128	152695844	90503529	4	14022											
ADCY2	108	broad.mit.edu	37	5	7802364	7802364	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr5:7802364G>A	ENST00000338316.4	+	21	2751	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	ADCY2_ENST00000537121.1_Missense_Mutation_p.V708I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	888					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V888I(3)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTGCGTCTGCGTCATGTTTGC	0.488																																																3	Substitution - Missense(3)	ovary(2)|large_intestine(1)	5											82	78	79					5																	7802364		2203	4300	6503	7855364	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2662G>A	5.37:g.7802364G>A	ENSP00000342952:p.Val888Ile		7855364	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	31	5.078655	0.94050	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.80653	-1.4;-1.4	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.87613	0.6221	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87987	0.2747	10	0.56958	D	0.05	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	708;888	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	888;41;721;708	ENSP00000342952:V888I;ENSP00000444803:V708I	ENSP00000342952:V888I	V	+	1	0	ADCY2	7855364	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.506000	0.97992	2.447000	0.82792	0.591000	0.81541	GTC		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7802364	G	A	7802364	3	1	254	1	0	0	0	0	1	0	0	0	294	1145	40	1	2744	1	ADCY2	5	7802364	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08		7802364	173112896	5	14023											
LNPEP	4012	broad.mit.edu	37	5	96328796	96328796	+	Silent	SNP	T	T	C			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr5:96328796T>C	ENST00000231368.5	+	5	1901	c.1209T>C	c.(1207-1209)ttT>ttC	p.F403F	LNPEP_ENST00000395770.3_Silent_p.F389F	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	403					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F403F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTCTTGAGTTTTTTCAAAACT	0.303																																																1	Substitution - coding silent(1)	ovary(1)	5											82	85	84					5																	96328796		2202	4299	6501	96354552	SO:0001819	synonymous_variant	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1209T>C	5.37:g.96328796T>C			96354552	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	CCDS4087.1																																																																																				0.303	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		C	96328796	T	C	96328796	2	2	254	1	0	0	0	0	0	0	0	1	8864	1838	64	4		4	LNPEP	5	96328796	Silent	SNP	T	TCGA-24-1603-01A-01W-0551-08	88526432	96328796	84586464	6	14024											
DST	667	broad.mit.edu	37	6	56496755	56496755	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr6:56496755G>T	ENST00000361203.3	-	25	3263	c.3256C>A	c.(3256-3258)Ctg>Atg	p.L1086M	DST_ENST00000370754.5_Missense_Mutation_p.L1264M|DST_ENST00000244364.6_Missense_Mutation_p.L760M|DST_ENST00000370769.4_Missense_Mutation_p.L1086M|DST_ENST00000446842.2_Missense_Mutation_p.L760M|DST_ENST00000370765.6_Missense_Mutation_p.L760M|DST_ENST00000370788.2_Missense_Mutation_p.L1086M|DST_ENST00000518935.1_Missense_Mutation_p.L760M|DST_ENST00000312431.6_Missense_Mutation_p.L1086M|DST_ENST00000421834.2_Missense_Mutation_p.L1086M			Q03001	DYST_HUMAN	dystonin	1086					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L1086M(1)|p.L760M(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTCTAATCAGCCGATCTTCA	0.388																																																2	Substitution - Missense(2)	ovary(2)	6											110	108	109					6																	56496755		2203	4300	6503	56604714	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3256C>A	6.37:g.56496755G>T	ENSP00000354508:p.Leu1086Met		56604714	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	16.26	3.072191	0.55646	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.69306	0.8;0.8;0.8;0.8;0.8;0.8;0.8;-0.39;0.8;0.8;0.8;-0.02	5.84	-4.44	0.03557	.	0.000000	0.39146	N	0.001457	T	0.68311	0.2987	M	0.71581	2.175	0.30041	N	0.812588	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.87578	0.963;0.996;0.963;0.99;0.996;0.998;0.963;0.983	T	0.74009	-0.3802	9	0.33940	T	0.23	.	16.3166	0.82930	0.408:0.0:0.592:0.0	.	1086;1086;1264;760;760;760;1086;760	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	M	760;1264;1086;1086;760;1086;1086;1086;760;1126;760;760	ENSP00000244364:L760M;ENSP00000359790:L1264M;ENSP00000359805:L1086M;ENSP00000400883:L1086M;ENSP00000393645:L760M;ENSP00000307959:L1086M;ENSP00000359824:L1086M;ENSP00000354508:L1086M;ENSP00000404924:L760M;ENSP00000431030:L1126M;ENSP00000359801:L760M;ENSP00000431003:L760M	ENSP00000244364:L760M	L	-	1	2	DST	56604714	0.319000	0.24607	0.079000	0.20413	0.971000	0.66376	0.839000	0.27586	-1.124000	0.02936	-0.229000	0.12294	CTG		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56496755	G	T	56496755	3	4	254	1	0	0	0	0	1	0	0	0	4783	962	34	3	18157	3	DST	6	56496755	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08		56496755	114618312	7	14025											
LATS1	9113	broad.mit.edu	37	6	150001524	150001524	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr6:150001524G>A	ENST00000543571.1	-	5	2627	c.2080C>T	c.(2080-2082)Cgt>Tgt	p.R694C	LATS1_ENST00000253339.5_Missense_Mutation_p.R694C|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R694C(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTTTTAAGACGGATGTAATTA	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											92	99	97					6																	150001524		2201	4299	6500	150043217	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2080C>T	6.37:g.150001524G>A	ENSP00000437550:p.Arg694Cys		150043217		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879905	0.72294	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.68331	-0.32;-0.32	5.64	4.77	0.60923	Protein kinase-like domain (1);	0.112325	0.41001	D	0.000978	T	0.73984	0.3657	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75808	-0.3187	9	.	.	.	.	14.8438	0.70246	0.0692:0.0:0.9308:0.0	.	694	O95835	LATS1_HUMAN	C	694	ENSP00000437550:R694C;ENSP00000253339:R694C	.	R	-	1	0	LATS1	150043217	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.582000	0.82546	1.523000	0.49018	0.557000	0.71058	CGT		0.353	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		A	150001524	G	A	150001524	3	1	254	1	0	0	0	0	1	0	0	0	8646	1116	39	1	1328	1	LATS1	6	150001524	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08	93504769	150001524	21113543	8	14026											
DNAH11	8701	broad.mit.edu	37	7	21788246	21788246	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr7:21788246G>T	ENST00000409508.3	+	52	8590	c.8559G>T	c.(8557-8559)ttG>ttT	p.L2853F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L2860F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2860	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L2860F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGCTCTCTTGGTTGGAGTTG	0.562									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											65	68	67					7																	21788246		1970	4153	6123	21754771	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8559G>T	7.37:g.21788246G>T	ENSP00000475939:p.Leu2853Phe		21754771	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	12.97	2.097246	0.37048	.	.	ENSG00000105877	ENST00000328843	T	0.57752	0.38	6.06	1.48	0.22813	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	.	.	.	0.44042	D	0.996775	D	0.89917	1.0	D	0.97110	1.0	T	0.65005	-0.6273	9	0.87932	D	0	.	6.4408	0.21849	0.2605:0.1255:0.614:0.0	.	2860	Q96DT5	DYH11_HUMAN	F	2860	ENSP00000330671:L2860F	ENSP00000330671:L2860F	L	+	3	2	DNAH11	21754771	1.000000	0.71417	0.005000	0.12908	0.092000	0.18411	1.303000	0.33470	0.270000	0.21984	0.650000	0.86243	TTG		0.562	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21788246	G	T	21788246	3	4	254	1	0	0	0	0	1	0	0	0	4599	1339	47	3	8787	3	DNAH11	7	21788246	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08		21788246	137350417	9	14027											
DOCK4	9732	broad.mit.edu	37	7	111540571	111540571	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr7:111540571C>G	ENST00000437633.1	-	15	1595	c.1339G>C	c.(1339-1341)Ggg>Cgg	p.G447R	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.G447R	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	447	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.G435R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGTGGCTCCCCAGAGCCGAAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	7											62	60	61					7																	111540571		1894	4111	6005	111327807	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1339G>C	7.37:g.111540571C>G	ENSP00000404179:p.Gly447Arg		111327807	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145589	0.94603	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.15372	2.43;2.43	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.64084	-0.6490	10	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	447;447;447	Q149N2;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	R	435;447;447;435;446	ENSP00000410746:G447R;ENSP00000404179:G447R	ENSP00000345432:G435R	G	-	1	0	DOCK4	111327807	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GGG		0.448	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		G	111540571	C	G	111540571	3	3	254	1	0	0	0	0	1	0	0	0	4689	594	21	3	4713	3	DOCK4	7	111540571	Missense_Mutation	SNP	C	TCGA-24-1603-01A-01W-0551-08	89752325	111540571	47598092	10	14028											
SPTAN1	6709	broad.mit.edu	37	9	131386698	131386698	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr9:131386698C>T	ENST00000372731.4	+	45	6019	c.5909C>T	c.(5908-5910)gCg>gTg	p.A1970V	SPTAN1_ENST00000372739.3_Missense_Mutation_p.A1975V|SPTAN1_ENST00000358161.5_Missense_Mutation_p.A1975V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1970					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A1970V(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAGAGAAAGGCGAAGCTGGAT	0.547																																					NSCLC(120;833 1744 2558 35612 37579)											1	Substitution - Missense(1)	ovary(1)	9											79	65	70					9																	131386698		2203	4300	6503	130426519	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5909C>T	9.37:g.131386698C>T	ENSP00000361816:p.Ala1970Val		130426519	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448962	0.96205	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.52526	0.66;0.66;0.66	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	L	0.55990	1.75	0.80722	D	1	P;D;P	0.69078	0.507;0.997;0.501	B;P;B	0.54499	0.036;0.754;0.076	T	0.61382	-0.7074	10	0.62326	D	0.03	.	19.5707	0.95413	0.0:1.0:0.0:0.0	.	1950;1975;1970	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	V	1975;1970;1975;1950;219	ENSP00000350882:A1975V;ENSP00000361816:A1970V;ENSP00000361824:A1975V	ENSP00000350882:A1975V	A	+	2	0	SPTAN1	130426519	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	7.445000	0.80570	2.709000	0.92574	0.655000	0.94253	GCG		0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131386698	C	T	131386698	3	4	254	1	0	0	0	0	1	0	0	0	15119	768	27	1	6102	1	SPTAN1	9	131386698	Missense_Mutation	SNP	C	TCGA-24-1603-01A-01W-0551-08		131386698	9826733	11	14029											
TSC1	7248	broad.mit.edu	37	9	135778139	135778139	+	Silent	SNP	C	C	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr9:135778139C>T	ENST00000298552.3	-	18	2465	c.2244G>A	c.(2242-2244)caG>caA	p.Q748Q	TSC1_ENST00000545250.1_Silent_p.Q697Q|TSC1_ENST00000440111.2_Silent_p.Q748Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	748					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.Q748Q(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCTTCCACATCTGGATGTCCT	0.448			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	2	Unknown(1)|Substitution - coding silent(1)	ovary(1)|bone(1)	9											215	185	195					9																	135778139		2203	4300	6503	134767960	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2244G>A	9.37:g.135778139C>T		1620	134767960	B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	CCDS6956.1																																																																																				0.448	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			T	135778139	C	T	135778139	2	4	254	1	0	0	0	0	0	0	0	1	16605	912	32	2		2	TSC1	9	135778139	Silent	SNP	C	TCGA-24-1603-01A-01W-0551-08	4391441	135778139	5435292	12	14030											
OR4A5	81318	broad.mit.edu	37	11	51411670	51411670	+	Silent	SNP	G	G	C	rs370303718		TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr11:51411670G>C	ENST00000319760.6	-	1	778	c.726C>G	c.(724-726)acC>acG	p.T242T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T242T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGACAACAACGGTACTGCCGG	0.398																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	11											61	60	61					11																	51411670		2201	4295	6496	51268246	SO:0001819	synonymous_variant	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.726C>G	11.37:g.51411670G>C			51268246	Q6IF84	Silent	SNP	ENST00000319760.6	37	CCDS31497.1																																																																																				0.398	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		C	51411670	G	C	51411670	2	2	254	1	0	0	0	0	0	0	0	1	11043	1103	39	3		3	OR4A5	11	51411670	Silent	SNP	G	TCGA-24-1603-01A-01W-0551-08		51411670	83594846	13	14031											
ST14	6768	broad.mit.edu	37	11	130058087	130058087	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr11:130058087C>T	ENST00000278742.5	+	2	578	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	54					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R54C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGGCCCGGGGCGCTGGGTGGT	0.607																																																1	Substitution - Missense(1)	ovary(1)	11											68	66	67					11																	130058087		2201	4297	6498	129563297	SO:0001583	missense	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.160C>T	11.37:g.130058087C>T	ENSP00000278742:p.Arg54Cys		129563297	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304573	0.40795	.	.	ENSG00000149418	ENST00000278742	D	0.88896	-2.44	4.95	3.92	0.45320	.	0.000000	0.35495	N	0.003163	D	0.82829	0.5122	L	0.38175	1.15	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.79225	-0.1891	10	0.72032	D	0.01	.	10.8941	0.47012	0.0:0.9025:0.0:0.0975	.	54	Q9Y5Y6	ST14_HUMAN	C	54	ENSP00000278742:R54C	ENSP00000278742:R54C	R	+	1	0	ST14	129563297	1.000000	0.71417	0.892000	0.35008	0.525000	0.34531	1.712000	0.37940	0.888000	0.36160	0.655000	0.94253	CGC		0.607	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			T	130058087	C	T	130058087	3	4	254	1	0	0	0	0	1	0	0	0	15213	768	27	1	166	1	ST14	11	130058087	Missense_Mutation	SNP	C	TCGA-24-1603-01A-01W-0551-08	78646417	130058087	4948429	14	14032											
POLE2	5427	broad.mit.edu	37	14	50140860	50140860	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr14:50140860C>T	ENST00000216367.5	-	5	497	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.R133Q|POLE2_ENST00000539565.2_Missense_Mutation_p.R107Q	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	133					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.R133Q(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	AATGGTATATCGCTCACGAAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	14											253	263	259					14																	50140860		2203	4300	6503	49210610	SO:0001583	missense	5427			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.398G>A	14.37:g.50140860C>T	ENSP00000216367:p.Arg133Gln		49210610	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091167	0.94149	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.59772	0.65;0.76;0.24	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86859	0.2028	10	0.87932	D	0	-11.9787	18.6008	0.91247	0.0:1.0:0.0:0.0	.	133	P56282	DPOE2_HUMAN	Q	133;107;133	ENSP00000216367:R133Q;ENSP00000446313:R107Q;ENSP00000451621:R133Q	ENSP00000216367:R133Q	R	-	2	0	POLE2	49210610	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.804000	0.75186	2.466000	0.83321	0.650000	0.86243	CGA		0.423	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		T	50140860	C	T	50140860	3	4	254	1	0	0	0	0	1	0	0	0	12197	884	31	1	1245	1	POLE2	14	50140860	Missense_Mutation	SNP	C	TCGA-24-1603-01A-01W-0551-08		50140860	57208680	15	14033											
TP53	7157	broad.mit.edu	37	17	7576900	7576901	+	Frame_Shift_Ins	INS	-	-	A			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	-	-	A	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr17:7576900_7576901insA	ENST00000269305.4	-	9	1134_1135	c.945_946insT	c.(943-948)tctcccfs	p.P316fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P316fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P316fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P316fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P316fs|TP53_ENST00000574684.1_5'Flank	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	316	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		P -> L (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q317fs*19(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.P316fs*21(1)|p.S315S(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)	TTTGGCTGGGGAGAGGAGCTGG	0.48		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"	17	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)|Substitution - coding silent(1)|Insertion - Frameshift(1)	ovary(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)	17																																								7517626	SO:0001589	frameshift_variant	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.946dupT	17.37:g.7576901_7576901dupA	ENSP00000269305:p.Pro316fs		7517625	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.48	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7576901	-	A	7576900	7	5	254	1	0	1	1	0	0	0	0	0	16381	1174	41	0	336	0	TP53	17	7576900	Frame_Shift_Ins	INS	-	TCGA-24-1603-01A-01W-0551-08		7576900	73618310	16	14034											
TTYH2	94015	broad.mit.edu	37	17	72249275	72249275	+	Missense_Mutation	SNP	C	C	T	rs150383554		TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr17:72249275C>T	ENST00000269346.4	+	12	1389	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	TTYH2_ENST00000441391.2_Missense_Mutation_p.R118C|TTYH2_ENST00000529107.1_Missense_Mutation_p.R418C	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	439						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R439C(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAAGCCTGGCGCATGGCGGC	0.587																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	17						C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	120	119	119		1315,352	4.5	1	17	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TTYH2	NM_032646.5,NM_052869.1	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	439/535,118/214	72249275	2,13004	2203	4300	6503	69760870	SO:0001583	missense	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1315C>T	17.37:g.72249275C>T	ENSP00000269346:p.Arg439Cys		69760870	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483194	0.63962	0.0	2.33E-4	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.27890	2.63;2.43;1.64	4.51	4.51	0.55191	.	0.057445	0.64402	D	0.000009	T	0.51822	0.1697	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.66847	0.926;0.947	T	0.56025	-0.8047	10	0.87932	D	0	-36.4406	11.3903	0.49811	0.1812:0.8188:0.0:0.0	.	418;439	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	C	439;418;118	ENSP00000269346:R439C;ENSP00000433089:R418C;ENSP00000394576:R118C	ENSP00000269346:R439C	R	+	1	0	TTYH2	69760870	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.163000	0.58183	2.318000	0.78349	0.561000	0.74099	CGC		0.587	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			T	72249275	C	T	72249275	3	4	254	1	0	0	0	0	1	0	0	0	16740	768	27	1	1361	1	TTYH2	17	72249275	Missense_Mutation	SNP	C	TCGA-24-1603-01A-01W-0551-08	64672375	72249275	8945935	17	14035											
RNF213	57674	broad.mit.edu	37	17	78321089	78321089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	-	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr17:78321089delG	ENST00000582970.1	+	29	9097	c.8954delG	c.(8953-8955)aggfs	p.R2985fs	RNF213_ENST00000336301.6_Frame_Shift_Del_p.R1058fs|RNF213_ENST00000508628.2_Frame_Shift_Del_p.R3034fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2985					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N1059fs*32(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTGTCCTTAGGAACTTCAGT	0.512																																																1	Deletion - Frameshift(1)	ovary(1)	17											38	37	38					17																	78321089		2203	4300	6503	75935684	SO:0001589	frameshift_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8954delG	17.37:g.78321089delG	ENSP00000464087:p.Arg2985fs		75935684	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	ENST00000582970.1	37	CCDS58606.1																																																																																				0.512	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		-	78321089	G	-	78321089	7	5	254	1	0	1	0	1	0	0	0	0	13480	1000	35	0	9383	0	RNF213	17	78321089	Frame_Shift_Del	DEL	G	TCGA-24-1603-01A-01W-0551-08	6071814	78321089	2874121	18	14036											
RTTN	25914	broad.mit.edu	37	18	67684648	67684648	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr18:67684648G>C	ENST00000255674.6	-	46	6702	c.6416C>G	c.(6415-6417)gCt>gGt	p.A2139G	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'Flank	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2139					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.A2139G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTACCATTAGCCAGGATCTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	18											76	72	73					18																	67684648		1855	4100	5955	65835628	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6416C>G	18.37:g.67684648G>C	ENSP00000255674:p.Ala2139Gly		65835628	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049644	0.75846	.	.	ENSG00000176225	ENST00000255674	T	0.49432	0.78	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.071817	0.52532	D	0.000062	T	0.63094	0.2482	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64491	-0.6395	10	0.66056	D	0.02	.	16.1878	0.81964	0.0:0.133:0.8669:0.0	.	2139	Q86VV8	RTTN_HUMAN	G	2139	ENSP00000255674:A2139G	ENSP00000255674:A2139G	A	-	2	0	RTTN	65835628	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.644000	0.74338	2.543000	0.85770	0.460000	0.39030	GCT		0.338	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		C	67684648	G	C	67684648	3	2	254	1	0	0	0	0	1	0	0	0	13740	971	34	3	280	3	RTTN	18	67684648	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08		67684648	10392600	19	14037											
LDLR	3949	broad.mit.edu	37	19	11218140	11218140	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr19:11218140A>G	ENST00000558518.1	+	6	1077	c.890A>G	c.(889-891)aAc>aGc	p.N297S	LDLR_ENST00000558013.1_Missense_Mutation_p.N297S|LDLR_ENST00000455727.2_Missense_Mutation_p.N129S|LDLR_ENST00000545707.1_Missense_Mutation_p.N170S|LDLR_ENST00000557933.1_Missense_Mutation_p.N297S|LDLR_ENST00000535915.1_Missense_Mutation_p.N256S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	297	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.N297S(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AAAGTCTGCAACATGGCTAGA	0.567																																					GBM(18;201 575 7820 21545)											2	Substitution - Missense(1)|Unknown(1)	ovary(1)|lung(1)	19	GRCh37	CD033542	LDLR	D							129	107	114					19																	11218140		2203	4300	6503	11079140	SO:0001583	missense	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.890A>G	19.37:g.11218140A>G	ENSP00000454071:p.Asn297Ser		11079140	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093942	0.56075	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.96011	-3.88;-3.88;-3.88	5.33	5.33	0.75918	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.181335	0.35495	N	0.003162	D	0.96769	0.8945	M	0.88450	2.955	0.58432	D	0.999992	P;B;P;B;P;P	0.39094	0.509;0.342;0.659;0.183;0.521;0.521	B;P;B;B;B;B	0.46208	0.437;0.507;0.437;0.254;0.293;0.293	D	0.97321	0.9944	10	0.72032	D	0.01	.	14.2801	0.66205	1.0:0.0:0.0:0.0	.	129;170;176;256;309;297	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	S	297;170;256;129	ENSP00000437639:N170S;ENSP00000440520:N256S;ENSP00000397829:N129S	ENSP00000252444:N297S	N	+	2	0	LDLR	11079140	1.000000	0.71417	0.834000	0.33040	0.081000	0.17604	9.160000	0.94734	2.020000	0.59435	0.459000	0.35465	AAC		0.567	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			G	11218140	A	G	11218140	3	3	254	1	0	0	0	0	1	0	0	0	8704	43	2	4	912	4	LDLR	19	11218140	Missense_Mutation	SNP	A	TCGA-24-1603-01A-01W-0551-08		11218140	47910843	20	14038											
CD79A	973	broad.mit.edu	37	19	42383707	42383707	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr19:42383707C>T	ENST00000221972.3	+	3	667	c.482C>T	c.(481-483)aCg>aTg	p.T161M	CD79A_ENST00000444740.2_Missense_Mutation_p.T123M	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	161					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.T161M(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GTGCCTGGGACGCTGCTGCTG	0.677			"O, S"		DLBCL																																		Dom	yes		19	19q13.2	973	"CD79a molecule, immunoglobulin-associated alpha"		L	1	Substitution - Missense(1)	ovary(1)	19											61	34	43					19																	42383707		2203	4299	6502	47075547	SO:0001583	missense	973			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.482C>T	19.37:g.42383707C>T	ENSP00000221972:p.Thr161Met		47075547	A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504239	0.44558	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	T	0.78595	-1.19	3.81	3.81	0.43845	.	0.173532	0.38005	N	0.001843	T	0.80116	0.4564	L	0.34521	1.04	0.39459	D	0.967531	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.962	T	0.81604	-0.0857	10	0.59425	D	0.04	-16.4829	11.516	0.50522	0.0:1.0:0.0:0.0	.	161;123	P11912;A0N775	CD79A_HUMAN;.	M	161;123	ENSP00000221972:T161M	ENSP00000221972:T161M	T	+	2	0	CD79A	47075547	0.655000	0.27376	0.940000	0.37924	0.260000	0.26232	1.552000	0.36244	2.425000	0.82216	0.456000	0.33151	ACG		0.677	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			T	42383707	C	T	42383707	3	4	254	1	0	0	0	0	1	0	0	0	3036	536	19	1	492	1	CD79A	19	42383707	Missense_Mutation	SNP	C	TCGA-24-1603-01A-01W-0551-08	31165567	42383707	16745276	21	14039											
SNAI1	6615	broad.mit.edu	37	20	48604442	48604442	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr20:48604442G>A	ENST00000244050.2	+	3	705	c.644G>A	c.(643-645)cGt>cAt	p.R215H		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	215	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.R215H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CACTGCAGCCGTGCCTTCGCT	0.632																																																1	Substitution - Missense(1)	ovary(1)	20											102	87	92					20																	48604442		2203	4300	6503	48037849	SO:0001583	missense	6615			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.644G>A	20.37:g.48604442G>A	ENSP00000244050:p.Arg215His		48037849	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007739	0.75046	.	.	ENSG00000124216	ENST00000244050	T	0.19669	2.13	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51434	-0.8706	10	0.87932	D	0	-31.9041	18.5926	0.91218	0.0:0.0:1.0:0.0	.	215	O95863	SNAI1_HUMAN	H	215	ENSP00000244050:R215H	ENSP00000244050:R215H	R	+	2	0	SNAI1	48037849	1.000000	0.71417	0.946000	0.38457	0.307000	0.27823	7.542000	0.82095	2.462000	0.83206	0.455000	0.32223	CGT		0.632	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			A	48604442	G	A	48604442	3	1	254	1	0	0	0	0	1	0	0	0	14829	1145	40	1	654	1	SNAI1	20	48604442	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08		48604442	14421078	22	14040											
GRIK1	2897	broad.mit.edu	37	21	31023550	31023550	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr21:31023550C>T	ENST00000399907.1	-	6	1253	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.R281Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R281Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.R281Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R281Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R281Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R281Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R281Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.R281Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	281				R -> G (in Ref. 2; AAA95961). {ECO:0000305}.	adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R281Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTTAAGCAGCCGAAACCCGGT	0.468																																																1	Substitution - Missense(1)	ovary(1)	21											81	66	71					21																	31023550		2203	4300	6503	29945421	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.842G>A	21.37:g.31023550C>T	ENSP00000382791:p.Arg281Gln		29945421	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212031	0.79240	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D	0.89917	0.992;0.996;1.0;0.996;0.996;0.995	D;D;D;D;D;P	0.75020	0.945;0.91;0.985;0.91;0.91;0.854	D	0.87510	0.2439	10	0.19590	T	0.45	.	18.6736	0.91521	0.0:1.0:0.0:0.0	.	281;281;281;281;281;281	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	Q	281;281;281;281;281;225;281;281;281;281	ENSP00000327687:R281Q;ENSP00000373777:R281Q;ENSP00000382797:R281Q;ENSP00000382798:R281Q;ENSP00000446326:R281Q;ENSP00000373776:R281Q;ENSP00000382791:R281Q;ENSP00000382793:R281Q;ENSP00000311646:R281Q	ENSP00000311646:R281Q	R	-	2	0	GRIK1	29945421	1.000000	0.71417	0.998000	0.56505	0.095000	0.18619	7.251000	0.78297	2.798000	0.96311	0.655000	0.94253	CGG		0.468	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			T	31023550	C	T	31023550	3	4	254	1	0	0	0	0	1	0	0	0	6773	652	23	1	2122	1	GRIK1	21	31023550	Missense_Mutation	SNP	C	TCGA-24-1603-01A-01W-0551-08		31023550	17106345	23	14041											
WDR4	10785	broad.mit.edu	37	21	44270236	44270236	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chr21:44270236G>A	ENST00000398208.2	-	11	1221	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	WDR4_ENST00000330317.2_Missense_Mutation_p.R388W|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4									p.R388W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CTCCGGCGCCGCTGCTTCTTC	0.612																																																1	Substitution - Missense(1)	ovary(1)	21											70	77	75					21																	44270236		2203	4300	6503	43143305	SO:0001583	missense	10785			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.1162C>T	21.37:g.44270236G>A	ENSP00000381266:p.Arg388Trp		43143305		Missense_Mutation	SNP	ENST00000398208.2	37	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268603	0.59540	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.64438	-0.1;-0.1	4.41	3.42	0.39159	.	0.389060	0.22576	N	0.058265	T	0.62962	0.2471	L	0.59436	1.845	0.09310	N	1	D;D	0.71674	0.998;0.997	P;B	0.50754	0.649;0.446	T	0.57894	-0.7732	10	0.87932	D	0	-27.1503	8.3915	0.32531	0.0:0.0:0.629:0.371	.	387;388	P57081-2;P57081	.;WDR4_HUMAN	W	388	ENSP00000328671:R388W;ENSP00000381266:R388W	ENSP00000328671:R388W	R	-	1	2	WDR4	43143305	0.799000	0.28903	0.003000	0.11579	0.032000	0.12392	1.430000	0.34914	2.023000	0.59567	0.514000	0.50259	CGG		0.612	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			A	44270236	G	A	44270236	3	1	254	1	0	0	0	0	1	0	0	0	17293	1086	38	1	80	1	WDR4	21	44270236	Missense_Mutation	SNP	G	TCGA-24-1603-01A-01W-0551-08	13246686	44270236	3859659	24	14042											
KLHL4	56062	broad.mit.edu	37	X	86888775	86888775	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1603-01A-01W-0551-08	TCGA-24-1603-10A-01W-0551-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5e9543ba-c914-4820-9be0-61a9c2964577	629b3267-d51d-45e8-a83e-049eedad5347	g.chrX:86888775T>A	ENST00000373119.4	+	8	1721	c.1576T>A	c.(1576-1578)Tat>Aat	p.Y526N	KLHL4_ENST00000373114.4_Missense_Mutation_p.Y526N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	526						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Y526N(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGACCAATGTATGCTGTAGG	0.413																																																1	Substitution - Missense(1)	ovary(1)	X											116	95	102					X																	86888775		2203	4300	6503	86775431	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1576T>A	X.37:g.86888775T>A	ENSP00000362211:p.Tyr526Asn		86775431	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187363	0.78789	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.91631	-2.88;-2.88	4.72	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	H	0.99498	4.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98438	1.0585	10	0.87932	D	0	.	12.4994	0.55948	0.0:0.0:0.0:1.0	.	526;526	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	N	526	ENSP00000362211:Y526N;ENSP00000362206:Y526N	ENSP00000362206:Y526N	Y	+	1	0	KLHL4	86775431	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.359000	0.79477	1.742000	0.51746	0.412000	0.27726	TAT		0.413	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			A	86888775	T	A	86888775	3	1	254	1	0	0	0	0	1	0	0	0	8391	1638	57	5	1606	5	KLHL4	23	86888775	Missense_Mutation	SNP	T	TCGA-24-1603-01A-01W-0551-08		86888775	68381785	25	14043											
CCNL2	81669	hgsc.bcm.edu	37	1	1322691	1322691	+	Silent	SNP	G	G	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:1322691G>T	ENST00000400809.3	-	11	1488	c.1483C>A	c.(1483-1485)Cga>Aga	p.R495R	CCNL2_ENST00000408952.5_Silent_p.R273R|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	495					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R495R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GAGCGCTCTCGTCGCTGATCT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	1											151	159	156					1																	1322691		2203	4296	6499	1312554	SO:0001819	synonymous_variant	81669			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1483C>A	1.37:g.1322691G>T			1312554	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	CCDS30557.1																																																																																				0.592	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		T	1322691	G	T	1322691	2	4	255	1	0	0	0	0	0	0	0	1	2932	1153	40	3		3	CCNL2	1	1322691	Silent	SNP	G	TCGA-24-1604-01A-01W-0552-10		1322691	247927930	1	14044											
CELA3B	23436	hgsc.bcm.edu	37	1	22313137	22313137	+	Silent	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:22313137G>A	ENST00000337107.6	+	7	775	c.756G>A	c.(754-756)gtG>gtA	p.V252V	RNU6-1022P_ENST00000365049.1_RNA|CELA3B_ENST00000473526.1_3'UTR|RN7SL386P_ENST00000485776.2_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	252	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.V252V(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AGCCCACGGTGTTCACTCGAG	0.617																																																1	Substitution - coding silent(1)	ovary(1)	1											63	55	58					1																	22313137		2203	4300	6503	22185724	SO:0001819	synonymous_variant	23436			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"proteinase E", "elastase 1", "cholesterol-binding pancreatic protease", "pancreatic endopeptidase E"		"elastase 3B, pancreatic"	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.756G>A	1.37:g.22313137G>A			22185724	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Silent	SNP	ENST00000337107.6	37	CCDS219.1																																																																																				0.617	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		A	22313137	G	A	22313137	2	1	255	1	0	0	0	0	0	0	0	1	3214	1364	48	2		2	CELA3B	1	22313137	Silent	SNP	G	TCGA-24-1604-01A-01W-0552-10	20990446	22313137	226937484	2	14045											
COL9A2	1298	hgsc.bcm.edu	37	1	40771848	40771848	+	Silent	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:40771848G>A	ENST00000372748.3	-	20	1116	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	340	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G340G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TCCCAGGCTGGCCTGGCACAC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1											64	59	60					1																	40771848		2203	4300	6503	40544435	SO:0001819	synonymous_variant	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1020C>T	1.37:g.40771848G>A			40544435	B2RMP9	Silent	SNP	ENST00000372748.3	37	CCDS450.1																																																																																				0.582	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		A	40771848	G	A	40771848	2	1	255	1	0	0	0	0	0	0	0	1	3708	1190	42	2		2	COL9A2	1	40771848	Silent	SNP	G	TCGA-24-1604-01A-01W-0552-10	18458711	40771848	208478773	3	14046											
TIE1	7075	hgsc.bcm.edu	37	1	43786955	43786955	+	Silent	SNP	C	C	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:43786955C>A	ENST00000372476.3	+	20	3202	c.3123C>A	c.(3121-3123)gtC>gtA	p.V1041V	TIE1_ENST00000433781.2_Silent_p.V686V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1041	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V1041V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTTGGAGTCCTTCTTTGGG	0.552																																																1	Substitution - coding silent(1)	ovary(1)	1											285	245	258					1																	43786955		2203	4300	6503	43559542	SO:0001819	synonymous_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3123C>A	1.37:g.43786955C>A			43559542	B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	CCDS482.1																																																																																				0.552	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		A	43786955	C	A	43786955	2	1	255	1	0	0	0	0	0	0	0	1	15893	842	30	3		3	TIE1	1	43786955	Silent	SNP	C	TCGA-24-1604-01A-01W-0552-10	3015107	43786955	205463666	4	14047											
TRIM33	51592	hgsc.bcm.edu	37	1	114967266	114967266	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:114967266G>A	ENST00000358465.2	-	10	1890	c.1807C>T	c.(1807-1809)Ccc>Tcc	p.P603S	TRIM33_ENST00000369543.2_Missense_Mutation_p.P603S|TRIM33_ENST00000450349.2_Missense_Mutation_p.P211S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	603					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P603S(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGCCTGGGTATCCCTGGT	0.443			T	RET	papillary thyroid																																		Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	1	Substitution - Missense(1)	ovary(1)	1											139	124	129					1																	114967266		2203	4300	6503	114768789	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1807C>T	1.37:g.114967266G>A	ENSP00000351250:p.Pro603Ser		114768789	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758366	0.89843	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.76448	-0.88;-0.82;-1.02	5.86	5.86	0.93980	.	0.095826	0.64402	D	0.000001	D	0.85349	0.5676	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.993;0.999;1.0;1.0	P;D;D;D	0.87578	0.758;0.941;0.998;0.994	D	0.83520	0.0085	10	0.46703	T	0.11	-7.0888	20.1823	0.98208	0.0:0.0:1.0:0.0	.	211;211;603;603	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.;.;.;TRI33_HUMAN	S	603;603;211	ENSP00000351250:P603S;ENSP00000358556:P603S;ENSP00000412077:P211S	ENSP00000351250:P603S	P	-	1	0	TRIM33	114768789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.572000	0.90756	2.771000	0.95319	0.650000	0.86243	CCC		0.443	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		A	114967266	G	A	114967266	3	1	255	1	0	0	0	0	1	0	0	0	16507	1261	44	2	1620	2	TRIM33	1	114967266	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	71180311	114967266	134283355	5	14048											
NAV1	89796	hgsc.bcm.edu	37	1	201751874	201751874	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:201751874C>A	ENST00000367296.4	+	6	2654	c.2234C>A	c.(2233-2235)gCa>gAa	p.A745E	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.A745E|NAV1_ENST00000367297.4_Missense_Mutation_p.A745E|NAV1_ENST00000367295.1_Missense_Mutation_p.A354E|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Missense_Mutation_p.A745E|NAV1_ENST00000367302.1_Missense_Mutation_p.A758E	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	745					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.A745E(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAAGCCAAGGCAGTGGCCTTG	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											45	45	45					1																	201751874		2203	4300	6503	200018497	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2234C>A	1.37:g.201751874C>A	ENSP00000356265:p.Ala745Glu		200018497	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673983	0.67928	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	T;T;T;T;T;T	0.07021	3.23;3.25;3.25;3.25;3.23;3.27	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	L	0.47716	1.5	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.977;0.994;0.998	T	0.00657	-1.1623	10	0.27082	T	0.32	-19.9139	18.9382	0.92594	0.0:1.0:0.0:0.0	.	745;354;745;253;745	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.;.;NAV1_HUMAN;.;.	E	758;745;745;745;745;253;354	ENSP00000356271:A758E;ENSP00000356265:A745E;ENSP00000295624:A745E;ENSP00000356266:A745E;ENSP00000356269:A745E;ENSP00000356264:A354E	ENSP00000295624:A745E	A	+	2	0	NAV1	200018497	1.000000	0.71417	0.982000	0.44146	0.972000	0.66771	7.449000	0.80643	2.592000	0.87571	0.591000	0.81541	GCA		0.562	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		A	201751874	C	A	201751874	3	1	255	1	0	0	0	0	1	0	0	0	10183	710	25	3	2313	3	NAV1	1	201751874	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10	86784608	201751874	47498747	6	14049											
NAV1	89796	hgsc.bcm.edu	37	1	201781663	201781663	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:201781663G>C	ENST00000367296.4	+	27	5515	c.5095G>C	c.(5095-5097)Gta>Cta	p.V1699L	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.V1639L|NAV1_ENST00000367297.4_Missense_Mutation_p.V1691L|NAV1_ENST00000367295.1_Missense_Mutation_p.V1305L|NAV1_ENST00000295624.6_Missense_Mutation_p.V1696L|NAV1_ENST00000367302.1_Missense_Mutation_p.V1652L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1699					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.V1696L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAGGAAGCTGGTAGAGTCAGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											196	164	175					1																	201781663		2203	4300	6503	200048286	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5095G>C	1.37:g.201781663G>C	ENSP00000356265:p.Val1699Leu		200048286	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117432	0.37339	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25	6.05	4.15	0.48705	.	0.130225	0.53938	D	0.000044	T	0.06188	0.0160	N	0.11756	0.17	0.39884	D	0.973677	B;B	0.10296	0.001;0.003	B;B	0.09377	0.003;0.004	T	0.27123	-1.0083	10	0.29301	T	0.29	-11.4865	16.9573	0.86263	0.0:0.5344:0.4656:0.0	.	1305;1696	Q8NEY1-5;Q8NEY1-3	.;.	L	1652;1699;1696;1691;1639;1305;108	ENSP00000356271:V1652L;ENSP00000356265:V1699L;ENSP00000295624:V1696L;ENSP00000356266:V1691L;ENSP00000356269:V1639L;ENSP00000356264:V1305L	ENSP00000295624:V1696L	V	+	1	0	NAV1	200048286	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.451000	0.35145	0.849000	0.35215	0.650000	0.86243	GTA		0.542	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		C	201781663	G	C	201781663	3	2	255	1	0	0	0	0	1	0	0	0	10183	1261	44	3	5258	3	NAV1	1	201781663	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	29789	201781663	47468958	7	14050											
CENPF	1063	hgsc.bcm.edu	37	1	214818878	214818878	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:214818878C>G	ENST00000366955.3	+	13	6133	c.5965C>G	c.(5965-5967)Caa>Gaa	p.Q1989E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2085					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q1989E(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGAGAAAACACAAGAGCTTGA	0.443																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Missense(1)	ovary(1)	1											72	75	74					1																	214818878		2203	4300	6503	212885501	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5965C>G	1.37:g.214818878C>G	ENSP00000355922:p.Gln1989Glu		212885501	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.483465	0.00163	.	.	ENSG00000117724	ENST00000366955	T	0.38722	1.12	5.46	2.01	0.26516	.	0.966526	0.08422	N	0.948212	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21895	-1.0232	10	0.07482	T	0.82	.	7.5445	0.27759	0.2942:0.3566:0.3492:0.0	.	2085	P49454	CENPF_HUMAN	E	1989	ENSP00000355922:Q1989E	ENSP00000355922:Q1989E	Q	+	1	0	CENPF	212885501	0.026000	0.19158	0.016000	0.15963	0.165000	0.22458	0.196000	0.17176	1.262000	0.44165	0.609000	0.83330	CAA		0.443	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214818878	C	G	214818878	3	3	255	1	0	0	0	0	1	0	0	0	3231	479	17	3	6011	3	CENPF	1	214818878	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10	13037215	214818878	34431743	8	14051											
IARS2	55699	hgsc.bcm.edu	37	1	220311336	220311336	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:220311336T>A	ENST00000302637.5	+	17	2230	c.2126T>A	c.(2125-2127)gTt>gAt	p.V709D	IARS2_ENST00000366922.1_Missense_Mutation_p.V637D|snoU13_ENST00000459443.1_RNA	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	709					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.V709D(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTCACCGAAGTTGCAATTGGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											151	134	140					1																	220311336		2203	4300	6503	218377959	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2126T>A	1.37:g.220311336T>A	ENSP00000303279:p.Val709Asp		218377959	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936029	0.73442	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.46451	0.87;0.87	6.0	6.0	0.97389	Aminoacyl-tRNA synthetase, class Ia (1);	0.176308	0.49305	D	0.000144	T	0.76521	0.3999	H	0.97390	3.995	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	D	0.85140	0.0980	10	0.87932	D	0	-21.4364	15.1271	0.72493	0.0:0.0:0.0:1.0	.	709	Q9NSE4	SYIM_HUMAN	D	637;709	ENSP00000355889:V637D;ENSP00000303279:V709D	ENSP00000303279:V709D	V	+	2	0	IARS2	218377959	1.000000	0.71417	0.967000	0.41034	0.223000	0.24884	7.337000	0.79256	2.310000	0.77875	0.451000	0.29950	GTT		0.403	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		A	220311336	T	A	220311336	3	1	255	1	0	0	0	0	1	0	0	0	7474	1725	60	5	2192	5	IARS2	1	220311336	Missense_Mutation	SNP	T	TCGA-24-1604-01A-01W-0552-10	5492458	220311336	28939285	9	14052											
TAF5L	27097	hgsc.bcm.edu	37	1	229738153	229738153	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr1:229738153G>A	ENST00000366676.1	-	3	760	c.761C>T	c.(760-762)cCc>cTc	p.P254L	TAF5L_ENST00000258281.2_Missense_Mutation_p.P254L|TAF5L_ENST00000366675.3_Missense_Mutation_p.P254L			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	254					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P254L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTGAGGGAGGGAGGCCCATC	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											90	89	90					1																	229738153		2203	4300	6503	227804776	SO:0001583	missense	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.761C>T	1.37:g.229738153G>A	ENSP00000355636:p.Pro254Leu		227804776	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802935	0.90623	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.58797	0.31;0.31;0.87	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.64706	-0.6344	9	.	.	.	-37.1495	20.0291	0.97531	0.0:0.0:1.0:0.0	.	254;254	O75529-2;O75529	.;TAF5L_HUMAN	L	254	ENSP00000355636:P254L;ENSP00000258281:P254L;ENSP00000355635:P254L	.	P	-	2	0	TAF5L	227804776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.450000	0.97607	2.738000	0.93877	0.650000	0.86243	CCC		0.542	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		A	229738153	G	A	229738153	3	1	255	1	0	0	0	0	1	0	0	0	15529	1232	43	2	1022	2	TAF5L	1	229738153	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	9426817	229738153	19512468	10	14053											
PLEK	5341	hgsc.bcm.edu	37	2	68615531	68615531	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr2:68615531T>C	ENST00000234313.7	+	6	849	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	224					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.F224L(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGACAGTGGGTTCTTCTGTGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											126	126	126					2																	68615531		2203	4300	6503	68469035	SO:0001583	missense	5341			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.670T>C	2.37:g.68615531T>C	ENSP00000234313:p.Phe224Leu		68469035	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547714	0.86022	.	.	ENSG00000115956	ENST00000234313	T	0.19105	2.17	5.17	5.17	0.71159	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	M	0.68317	2.08	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.66497	0.944;0.944	T	0.29912	-0.9996	10	0.46703	T	0.11	.	15.0181	0.71605	0.0:0.0:0.0:1.0	.	242;224	Q59GZ2;P08567	.;PLEK_HUMAN	L	224	ENSP00000234313:F224L	ENSP00000234313:F224L	F	+	1	0	PLEK	68469035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.413000	0.80104	1.952000	0.56665	0.533000	0.62120	TTC		0.468	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		C	68615531	T	C	68615531	3	2	255	1	0	0	0	0	1	0	0	0	12053	1725	60	4	692	4	PLEK	2	68615531	Missense_Mutation	SNP	T	TCGA-24-1604-01A-01W-0552-10		68615531	174583842	11	14054											
SPR	6697	hgsc.bcm.edu	37	2	73118556	73118556	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr2:73118556A>T	ENST00000234454.5	+	3	749	c.676A>T	c.(676-678)Aag>Tag	p.K226*	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	226					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)	p.K226*(1)		lung(4)|ovary(2)	6						GCAGGAGCTGAAGGCAAAGGG	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	2											82	76	78					2																	73118556		2203	4300	6503	72972064	SO:0001587	stop_gained	6697				CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	11257	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 38C, member 1"	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.676A>T	2.37:g.73118556A>T	ENSP00000234454:p.Lys226*		72972064	A8K741|D6W5H2|Q53GI9|Q9UBB1	Nonsense_Mutation	SNP	ENST00000234454.5	37	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.519601	0.64634	.	.	ENSG00000116096	ENST00000234454	.	.	.	5.0	3.85	0.44370	.	0.682380	0.15901	N	0.239091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.9088	8.541	0.33393	0.9091:0.0:0.0909:0.0	.	.	.	.	X	226	.	ENSP00000234454:K226X	K	+	1	0	SPR	72972064	1.000000	0.71417	0.457000	0.27056	0.538000	0.34931	2.744000	0.47450	0.949000	0.37715	0.459000	0.35465	AAG		0.557	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			T	73118556	A	T	73118556	4	4	255	1	0	0	0	0	0	1	0	0	15093	247	9	5	686	5	SPR	2	73118556	Nonsense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10	4503025	73118556	170080817	12	14055											
POLR1B	84172	hgsc.bcm.edu	37	2	113325654	113325654	+	Silent	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr2:113325654G>A	ENST00000263331.5	+	11	2437	c.1857G>A	c.(1855-1857)ctG>ctA	p.L619L	POLR1B_ENST00000537335.1_Silent_p.L408L|POLR1B_ENST00000409894.3_Silent_p.L436L|POLR1B_ENST00000417433.2_Silent_p.L563L|POLR1B_ENST00000541869.1_Silent_p.L657L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	619					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L619L(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CTTGTAGACTGGTACGGCCTG	0.433																																					Ovarian(16;256 576 9537 23969 41147)											1	Substitution - coding silent(1)	ovary(1)	2											211	187	195					2																	113325654		2203	4300	6503	113042125	SO:0001819	synonymous_variant	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1857G>A	2.37:g.113325654G>A			113042125	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	CCDS2097.1																																																																																				0.433	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		A	113325654	G	A	113325654	2	1	255	1	0	0	0	0	0	0	0	1	12210	1335	47	2		2	POLR1B	2	113325654	Silent	SNP	G	TCGA-24-1604-01A-01W-0552-10	40207098	113325654	129873719	13	14056											
THSD7B	80731	hgsc.bcm.edu	37	2	138417303	138417303	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr2:138417303C>A	ENST00000409968.1	+	25	4623	c.4445C>A	c.(4444-4446)tCc>tAc	p.S1482Y	THSD7B_ENST00000272643.3_Missense_Mutation_p.S1485Y|THSD7B_ENST00000413152.2_Missense_Mutation_p.S1454Y|THSD7B_ENST00000543459.1_Missense_Mutation_p.P317T			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1484						integral component of membrane (GO:0016021)		p.S1485Y(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAACCTTTCTCCTACTGTACA	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											36	37	37					2																	138417303		1939	4139	6078	138133773	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4445C>A	2.37:g.138417303C>A	ENSP00000387145:p.Ser1482Tyr		138133773		Missense_Mutation	SNP	ENST00000409968.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.69|14.69	2.611748|2.611748	0.46631|0.46631	.|.	.|.	ENSG00000144229|ENSG00000144229	ENST00000543459|ENST00000409968;ENST00000272643;ENST00000413152	T|T;T;T	0.26067|0.28255	1.76|2.14;2.01;1.62	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55081|0.55081	0.1898|0.1898	M|M	0.72118|0.72118	2.19|2.19	0.36939|0.36939	D|D	0.892282|0.892282	.|D	.|0.71674	.|0.998	.|P	.|0.60789	.|0.879	T|T	0.60727|0.60727	-0.7206|-0.7206	7|10	0.36615|0.72032	T|D	0.2|0.01	.|.	20.2822|20.2822	0.98520|0.98520	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1454	.|C9JKN6	.|.	T|Y	317|1482;1485;1454	ENSP00000443370:P317T|ENSP00000387145:S1482Y;ENSP00000272643:S1485Y;ENSP00000413841:S1454Y	ENSP00000443370:P317T|ENSP00000272643:S1485Y	P|S	+|+	1|2	0|0	THSD7B|THSD7B	138133773|138133773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.971000|6.971000	0.76105|0.76105	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	138417303	C	A	138417303	3	1	255	1	0	0	0	0	1	0	0	0	15880	855	30	3	4451	3	THSD7B	2	138417303	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10	25091649	138417303	104782070	14	14057											
ARMC9	80210	hgsc.bcm.edu	37	2	232081351	232081351	+	Splice_Site	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr2:232081351G>A	ENST00000349938.4	+	5	543	c.349G>A	c.(349-351)Gac>Aac	p.D117N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	117						extracellular vesicular exosome (GO:0070062)		p.D117N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTTCTTCTAGGACAAAGAGGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	2											164	156	159					2																	232081351		2203	4300	6503	231789595	SO:0001630	splice_region_variant	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.349-1G>A	2.37:g.232081351G>A			231789595	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019664	0.75275	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.48201	2.04;0.82	5.5	5.5	0.81552	.	0.094077	0.64402	D	0.000001	T	0.48295	0.1492	M	0.63843	1.955	0.58432	D	0.999994	B	0.29432	0.244	B	0.36335	0.222	T	0.41662	-0.9496	9	.	.	.	-32.6324	11.9644	0.53027	0.0797:0.0:0.9203:0.0	.	117	Q7Z3E5	ARMC9_HUMAN	N	117	ENSP00000258417:D117N;ENSP00000387391:D117N	.	D	+	1	0	ARMC9	231789595	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.259000	0.65485	2.573000	0.86826	0.655000	0.94253	GAC		0.493	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	Missense_Mutation	A	232081351	G	A	232081351	5	1	255	1	0	0	0	0	0	0	1	0	958	1188	41	2	363	2	ARMC9	2	232081351	Splice_Site	SNP	G	TCGA-24-1604-01A-01W-0552-10	93664048	232081351	11118022	15	14058											
ITPR1	3708	hgsc.bcm.edu	37	3	4842273	4842273	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr3:4842273G>A	ENST00000443694.2	+	51	7051	c.7051G>A	c.(7051-7053)Ggc>Agc	p.G2351S	ITPR1_ENST00000357086.4_Missense_Mutation_p.G2318S|ITPR1_ENST00000456211.2_Missense_Mutation_p.G2303S|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.G2318S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.G2351S|ITPR1_ENST00000302640.8_Missense_Mutation_p.G2351S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2366					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.G2303S(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GTTTCTTCTGGGCGCTTTCAA	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											107	104	105					3																	4842273		1904	4122	6026	4817273	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7051G>A	3.37:g.4842273G>A	ENSP00000401671:p.Gly2351Ser		4817273	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172342	0.94807	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	5.1	5.1	0.69264	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.87578	0.905;0.998	D	0.99271	1.0893	10	0.51188	T	0.08	.	18.8652	0.92289	0.0:0.0:1.0:0.0	.	2366;2318	Q14643;G5E9P1	ITPR1_HUMAN;.	S	2366;2351;2351;2318;812;2318;2303;2351	ENSP00000306253:G2351S;ENSP00000346595:G2351S;ENSP00000405934:G2318S;ENSP00000349597:G2318S;ENSP00000397885:G2303S;ENSP00000401671:G2351S	ENSP00000306253:G2351S	G	+	1	0	ITPR1	4817273	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.338000	0.96553	2.535000	0.85469	0.591000	0.81541	GGC		0.478	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		A	4842273	G	A	4842273	3	1	255	1	0	0	0	0	1	0	0	0	7920	1232	43	2	7302	2	ITPR1	3	4842273	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10		4842273	193180157	16	14059											
CAMKV	79012	hgsc.bcm.edu	37	3	49899765	49899765	+	Silent	SNP	C	C	T	rs202049256		TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr3:49899765C>T	ENST00000477224.1	-	2	535	c.57G>A	c.(55-57)gaG>gaA	p.E19E	CAMKV_ENST00000488336.1_Silent_p.E19E|CAMKV_ENST00000463537.1_Silent_p.E19E|CAMKV_ENST00000466940.1_Silent_p.E19E|CAMKV_ENST00000296471.7_Silent_p.E19E|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_De_novo_Start_OutOfFrame|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	19						cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.E19E(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTCAGTCACCTCCGATGGCT	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		20409	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	3											144	125	132					3																	49899765		2203	4300	6503	49874769	SO:0001819	synonymous_variant	79012			BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.57G>A	3.37:g.49899765C>T			49874769	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP	ENST00000477224.1	37	CCDS33762.1																																																																																				0.582	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		T	49899765	C	T	49899765	2	4	255	1	0	0	0	0	0	0	0	1	2608	680	24	2		2	CAMKV	3	49899765	Silent	SNP	C	TCGA-24-1604-01A-01W-0552-10	45057492	49899765	148122665	17	14060											
GOLGB1	2804	hgsc.bcm.edu	37	3	121415640	121415640	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr3:121415640G>C	ENST00000340645.5	-	13	3840	c.3715C>G	c.(3715-3717)Caa>Gaa	p.Q1239E	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q1244E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1239					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1239E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCCTTACTTGAATCTGGAGT	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											192	177	182					3																	121415640		2203	4300	6503	122898330	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3715C>G	3.37:g.121415640G>C	ENSP00000341848:p.Gln1239Glu		122898330	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	7.846	0.722868	0.15439	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.21031	2.62;2.62;2.03	5.98	5.98	0.97165	.	0.220652	0.32134	N	0.006531	T	0.20251	0.0487	L	0.52364	1.645	0.25930	N	0.983008	B;P;B;P;B	0.36837	0.004;0.571;0.004;0.571;0.002	B;B;B;B;B	0.36608	0.006;0.229;0.006;0.229;0.004	T	0.38222	-0.9671	10	0.05351	T	0.99	.	17.9385	0.89020	0.0:0.0:1.0:0.0	.	1164;1203;1244;1244;1239	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	E	1239;1244;1203	ENSP00000341848:Q1239E;ENSP00000377275:Q1244E;ENSP00000418231:Q1203E	ENSP00000341848:Q1239E	Q	-	1	0	GOLGB1	122898330	0.292000	0.24362	0.997000	0.53966	0.714000	0.41099	1.177000	0.31969	2.834000	0.97654	0.655000	0.94253	CAA		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		C	121415640	G	C	121415640	3	2	255	1	0	0	0	0	1	0	0	0	6565	1299	45	3	6104	3	GOLGB1	3	121415640	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	71515875	121415640	76606790	18	14061											
HEG1	57493	hgsc.bcm.edu	37	3	124748076	124748076	+	Silent	SNP	C	C	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr3:124748076C>T	ENST00000311127.4	-	2	640	c.573G>A	c.(571-573)gaG>gaA	p.E191E		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	191					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E191E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTGTTGCTATCTCCAGTGAGT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	3											69	72	71					3																	124748076		2013	4204	6217	126230766	SO:0001819	synonymous_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.573G>A	3.37:g.124748076C>T			126230766	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																				0.478	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		T	124748076	C	T	124748076	2	4	255	1	0	0	0	0	0	0	0	1	7044	912	32	2		2	HEG1	3	124748076	Silent	SNP	C	TCGA-24-1604-01A-01W-0552-10	3332436	124748076	73274354	19	14062											
MBD4	8930	hgsc.bcm.edu	37	3	129152027	129152027	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr3:129152027C>G	ENST00000249910.1	-	6	1650	c.1475G>C	c.(1474-1476)aGa>aCa	p.R492T	MBD4_ENST00000429544.2_Missense_Mutation_p.R486T|MBD4_ENST00000503197.1_Missense_Mutation_p.R492T|MBD4_ENST00000507208.1_Missense_Mutation_p.R492T|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Missense_Mutation_p.R174T	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	492					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.R492T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						GTCTGCGGTTCTTGCTACCTC	0.428								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	ovary(1)	3											127	126	126					3																	129152027		2203	4300	6503	130634717	SO:0001583	missense	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1475G>C	3.37:g.129152027C>G	ENSP00000249910:p.Arg492Thr		130634717	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758562	0.49468	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	6.05	6.05	0.98169	HhH-GPD domain (1);DNA glycosylase (2);	0.000000	0.85682	D	0.000000	D	0.89044	0.6603	L	0.31926	0.97	0.80722	D	1	P;P;B;D;B	0.89917	0.482;0.457;0.32;1.0;0.371	B;B;B;D;B	0.91635	0.171;0.145;0.124;0.999;0.127	D	0.86253	0.1650	10	0.30854	T	0.27	-20.7297	20.2554	0.98417	0.0:1.0:0.0:0.0	.	492;174;486;492;492	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	T	486;492;492;174;492	ENSP00000394080:R486T;ENSP00000249910:R492T;ENSP00000424873:R492T;ENSP00000376959:R174T;ENSP00000422327:R492T	ENSP00000249910:R492T	R	-	2	0	MBD4	130634717	0.998000	0.40836	0.020000	0.16555	0.966000	0.64601	5.575000	0.67430	2.886000	0.99085	0.650000	0.86243	AGA		0.428	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		G	129152027	C	G	129152027	3	3	255	1	0	0	0	0	1	0	0	0	9346	913	32	3	279	3	MBD4	3	129152027	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10	4403951	129152027	68870403	20	14063											
KCNAB1	7881	hgsc.bcm.edu	37	3	156234150	156234150	+	Silent	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr3:156234150G>A	ENST00000490337.1	+	11	1021	c.957G>A	c.(955-957)ctG>ctA	p.L319L	KCNAB1_ENST00000389634.5_Silent_p.L272L|KCNAB1_ENST00000302490.8_Silent_p.L301L|KCNAB1_ENST00000471742.1_Silent_p.L308L|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Silent_p.L290L	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	319					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.L301L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGGCTTCACTGAAGGTATTTT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	3											69	71	70					3																	156234150		2203	4300	6503	157716844	SO:0001819	synonymous_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.957G>A	3.37:g.156234150G>A			157716844	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	CCDS3174.1																																																																																				0.498	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		A	156234150	G	A	156234150	2	1	255	1	0	0	0	0	0	0	0	1	8009	1277	45	2		2	KCNAB1	3	156234150	Silent	SNP	G	TCGA-24-1604-01A-01W-0552-10	27082123	156234150	41788280	21	14064											
NMD3	51068	hgsc.bcm.edu	37	3	160952914	160952914	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr3:160952914T>A	ENST00000460469.1	+	6	946	c.491T>A	c.(490-492)tTg>tAg	p.L164*	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Nonsense_Mutation_p.L164*|NMD3_ENST00000351193.2_Nonsense_Mutation_p.L164*			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	164					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.L164*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TTTTAGACTTTGCATAAAAAA	0.303																																																1	Substitution - Nonsense(1)	ovary(1)	3											27	31	30					3																	160952914		2166	4271	6437	162435608	SO:0001587	stop_gained	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.491T>A	3.37:g.160952914T>A	ENSP00000419004:p.Leu164*		162435608	D3DNM7|Q9Y2Z6	Nonsense_Mutation	SNP	ENST00000460469.1	37	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019749	0.93462	.	.	ENSG00000169251	ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000460469;ENST00000540137	.	.	.	4.63	4.63	0.57726	.	0.216977	0.37483	N	0.002071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-17.8263	13.1989	0.59756	0.0:0.0:0.0:1.0	.	.	.	.	X	164;164;164;164;164;44	.	ENSP00000307525:L164X	L	+	2	0	NMD3	162435608	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	2.942000	0.49018	1.854000	0.53819	0.477000	0.44152	TTG		0.303	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		A	160952914	T	A	160952914	4	1	255	1	0	0	0	0	0	1	0	0	10488	1821	63	5	513	5	NMD3	3	160952914	Nonsense_Mutation	SNP	T	TCGA-24-1604-01A-01W-0552-10	4718764	160952914	37069516	22	14065											
ARHGEF38	54848	hgsc.bcm.edu	37	4	106473934	106473934	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr4:106473934A>C	ENST00000420470.2	+	1	156	c.12A>C	c.(10-12)aaA>aaC	p.K4N	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.K4N|AC004066.3_ENST00000514879.1_RNA	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	4						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K4N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						TGGAGCCCAAAGAAGCCACTG	0.478																																																1	Substitution - Missense(1)	ovary(1)	4											70	69	69					4																	106473934		2203	4300	6503	106693383	SO:0001583	missense	54848			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"Rho guanine nucleotide exchange factors"	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.12A>C	4.37:g.106473934A>C	ENSP00000416125:p.Lys4Asn		106693383	C9JIB4	Missense_Mutation	SNP	ENST00000420470.2	37	CCDS56338.1	.	.	.	.	.	.	.	.	.	.	A	4.970	0.180209	0.09443	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	T;T	0.58060	1.72;0.36	5.98	0.727	0.18254	.	0.514231	0.20963	N	0.082534	T	0.41465	0.1160	L	0.51422	1.61	0.25898	N	0.983385	P	0.36282	0.546	B	0.31812	0.136	T	0.33752	-0.9856	10	0.66056	D	0.02	-3.6246	9.7857	0.40675	0.6608:0.0:0.3392:0.0	.	4	Q9NXL2	ARH38_HUMAN	N	4	ENSP00000265154:K4N;ENSP00000416125:K4N	ENSP00000265154:K4N	K	+	3	2	ARHGEF38	106693383	0.988000	0.35896	0.625000	0.29200	0.015000	0.08874	0.204000	0.17335	0.171000	0.19730	-0.296000	0.09543	AAA		0.478	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		C	106473934	A	C	106473934	3	2	255	1	0	0	0	0	1	0	0	0	907	69	3	5	14	5	ARHGEF38	4	106473934	Missense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10		106473934	84680342	23	14066											
MTMR12	54545	hgsc.bcm.edu	37	5	32263287	32263287	+	Silent	SNP	C	C	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr5:32263287C>A	ENST00000382142.3	-	7	815	c.645G>T	c.(643-645)ctG>ctT	p.L215L	MTMR12_ENST00000264934.5_Silent_p.L215L|MTMR12_ENST00000280285.5_Silent_p.L215L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	215	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.L215L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGTCCGTTCCAGTTCCCAAC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	5											346	278	301					5																	32263287		2203	4300	6503	32299044	SO:0001819	synonymous_variant	54545			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.645G>T	5.37:g.32263287C>A			32299044	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	ENST00000382142.3	37	CCDS34138.1																																																																																				0.423	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		A	32263287	C	A	32263287	2	1	255	1	0	0	0	0	0	0	0	1	9941	581	21	3		3	MTMR12	5	32263287	Silent	SNP	C	TCGA-24-1604-01A-01W-0552-10		32263287	148651973	24	14067											
MYOT	9499	hgsc.bcm.edu	37	5	137213303	137213303	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr5:137213303A>T	ENST00000239926.4	+	4	1000	c.626A>T	c.(625-627)gAc>gTc	p.D209V	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.D25V|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000515645.1_Missense_Mutation_p.D94V	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	209					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.D209V(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTGCACAAGACTCGCAGGTA	0.388																																																1	Substitution - Missense(1)	ovary(1)	5											96	96	96					5																	137213303		2203	4300	6503	137241202	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.626A>T	5.37:g.137213303A>T	ENSP00000239926:p.Asp209Val		137241202	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503086	0.26949	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68903	-0.31;-0.21;-0.36	5.7	5.7	0.88788	.	0.148595	0.44902	D	0.000406	T	0.52948	0.1766	N	0.19112	0.55	0.58432	D	0.999993	B	0.27559	0.181	B	0.20577	0.03	T	0.53012	-0.8498	10	0.51188	T	0.08	.	15.9618	0.79936	1.0:0.0:0.0:0.0	.	209	Q9UBF9	MYOTI_HUMAN	V	209;25;94	ENSP00000239926:D209V;ENSP00000391185:D25V;ENSP00000426281:D94V	ENSP00000239926:D209V	D	+	2	0	MYOT	137241202	0.998000	0.40836	0.902000	0.35471	0.143000	0.21401	4.087000	0.57671	2.170000	0.68504	0.482000	0.46254	GAC		0.388	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		T	137213303	A	T	137213303	3	4	255	1	0	0	0	0	1	0	0	0	10094	275	10	5	636	5	MYOT	5	137213303	Missense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10	104950016	137213303	43701957	25	14068											
HIST1H3H	8357	hgsc.bcm.edu	37	6	27778121	27778121	+	Silent	SNP	G	G	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr6:27778121G>T	ENST00000369163.2	+	1	280	c.270G>T	c.(268-270)gtG>gtT	p.V90V	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	90					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.V90V(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GCTCCGCGGTGATGGCGCTGC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	6											69	63	65					6																	27778121		2203	4300	6503	27886100	SO:0001819	synonymous_variant	8357			Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"Histones / Replication-dependent"	4775	protein-coding gene	gene with protein product		602818	"H3 histone family, member K", "histone 1, H3h"	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.270G>T	6.37:g.27778121G>T			27886100	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000369163.2	37	CCDS4627.1																																																																																				0.607	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		T	27778121	G	T	27778121	2	4	255	1	0	0	0	0	0	0	0	1	7162	1277	45	3		3	HIST1H3H	6	27778121	Silent	SNP	G	TCGA-24-1604-01A-01W-0552-10		27778121	143336946	26	14069											
GRM1	2911	hgsc.bcm.edu	37	6	146350912	146350912	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr6:146350912G>C	ENST00000282753.1	+	1	494	c.259G>C	c.(259-261)Gat>Cat	p.D87H	GRM1_ENST00000507907.1_Missense_Mutation_p.D87H|GRM1_ENST00000355289.4_Missense_Mutation_p.D87H|GRM1_ENST00000392299.2_Missense_Mutation_p.D87H|GRM1_ENST00000492807.2_Missense_Mutation_p.D87H|GRM1_ENST00000361719.2_Missense_Mutation_p.D87H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	87					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.D87H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCACACGTTGGATAAGATCAA	0.607																																																1	Substitution - Missense(1)	ovary(1)	6											65	57	60					6																	146350912		2203	4300	6503	146392605	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.259G>C	6.37:g.146350912G>C	ENSP00000282753:p.Asp87His		146392605	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471135	0.84533	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.57	5.57	0.84162	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88288	0.6396	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.998	D;D;D;D	0.97110	0.967;1.0;0.981;0.967	D	0.89265	0.3600	10	0.87932	D	0	.	19.5425	0.95280	0.0:0.0:1.0:0.0	.	87;87;82;87	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	87	ENSP00000354896:D87H;ENSP00000376119:D87H;ENSP00000424095:D87H;ENSP00000282753:D87H;ENSP00000347437:D87H;ENSP00000425599:D87H	ENSP00000282753:D87H	D	+	1	0	GRM1	146392605	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.619000	0.88677	0.561000	0.74099	GAT		0.607	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		C	146350912	G	C	146350912	3	2	255	1	0	0	0	0	1	0	0	0	6796	1174	41	3	261	3	GRM1	6	146350912	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	118572791	146350912	24764155	27	14070											
NUPL2	11097	hgsc.bcm.edu	37	7	23240232	23240233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr7:23240232_23240233insC	ENST00000258742.5	+	7	1399_1400	c.1140_1141insC	c.(1141-1143)gcafs	p.A381fs		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	381	Interaction with GLE1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.A381fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGCATCATTGCAACAGATAA	0.396																																																1	Insertion - Frameshift(1)	ovary(1)	7																																								23206758	SO:0001589	frameshift_variant	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	Exception_encountered	7.37:g.23240232_23240233insC	ENSP00000258742:p.Ala381fs		23206757	A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Ins	INS	ENST00000258742.5	37	CCDS5379.1																																																																																				0.396	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		C	23240233	-	C	23240232	7	5	255	1	0	1	1	0	0	0	0	0	10775	1800	63	0	1166	0	NUPL2	7	23240232	Frame_Shift_Ins	INS	-	TCGA-24-1604-01A-01W-0552-10		23240232	135898431	28	14071											
MGAM	8972	hgsc.bcm.edu	37	7	141722144	141722144	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr7:141722144G>A	ENST00000549489.2	+	7	882	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	MGAM_ENST00000475668.2_Missense_Mutation_p.V263M	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	263	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.V263M(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAGCACTAACGTGTATGGCCT	0.507																																																2	Substitution - Missense(2)	ovary(2)	7											153	146	149					7																	141722144		2030	4197	6227	141368613	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.787G>A	7.37:g.141722144G>A	ENSP00000447378:p.Val263Met		141368613	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567250	0.65651	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.86497	-2.13	5.55	5.55	0.83447	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.47093	D	0.000245	D	0.84257	0.5432	L	0.59436	1.845	0.39749	D	0.971857	D	0.64830	0.994	B	0.43301	0.415	D	0.85489	0.1184	10	0.54805	T	0.06	.	10.2562	0.43399	0.0868:0.0:0.9132:0.0	.	263	O43451	MGA_HUMAN	M	263;263;140	ENSP00000447378:V263M	ENSP00000316431:V140M	V	+	1	0	MGAM	141368613	1.000000	0.71417	0.973000	0.42090	0.757000	0.42996	6.072000	0.71238	2.885000	0.99019	0.655000	0.94253	GTG		0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141722144	G	A	141722144	3	1	255	1	0	0	0	0	1	0	0	0	9541	1145	40	1	809	1	MGAM	7	141722144	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	118481912	141722144	17416519	29	14072											
CYP7B1	9420	hgsc.bcm.edu	37	8	65528284	65528284	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr8:65528284C>T	ENST00000310193.3	-	3	987	c.814G>A	c.(814-816)Gag>Aag	p.E272K	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	272					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.E272K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TAATATTTCTCCAGGACATCT	0.353																																																1	Substitution - Missense(1)	ovary(1)	8											186	186	186					8																	65528284		2203	4299	6502	65690838	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.814G>A	8.37:g.65528284C>T	ENSP00000310721:p.Glu272Lys		65690838	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851398	0.32699	.	.	ENSG00000172817	ENST00000310193	D	0.85258	-1.96	5.52	4.63	0.57726	.	0.137584	0.64402	N	0.000004	T	0.80939	0.4720	L	0.42245	1.32	0.32465	N	0.5436	P	0.36733	0.567	B	0.37943	0.261	D	0.84020	0.0353	10	0.44086	T	0.13	-17.7455	13.4312	0.61057	0.0:0.9234:0.0:0.0766	.	272	O75881	CP7B1_HUMAN	K	272	ENSP00000310721:E272K	ENSP00000310721:E272K	E	-	1	0	CYP7B1	65690838	1.000000	0.71417	0.998000	0.56505	0.305000	0.27757	2.333000	0.43912	1.302000	0.44855	0.561000	0.74099	GAG		0.353	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			T	65528284	C	T	65528284	3	4	255	1	0	0	0	0	1	0	0	0	4197	864	30	2	722	2	CYP7B1	8	65528284	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10		65528284	80835738	30	14073											
KIAA0196	9897	hgsc.bcm.edu	37	8	126079941	126079941	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr8:126079941G>A	ENST00000318410.7	-	10	1520	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R243C	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	391					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.R391C(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGACGAAGGCGTTTGTTGTTT	0.363																																																1	Substitution - Missense(1)	ovary(1)	8											193	179	184					8																	126079941		2203	4300	6503	126149123	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1171C>T	8.37:g.126079941G>A	ENSP00000318016:p.Arg391Cys		126149123	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990757	0.74589	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.86366	-2.11;-2.11	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92745	0.6211	10	0.72032	D	0.01	-10.1884	19.6315	0.95704	0.0:0.0:1.0:0.0	.	391	Q12768	STRUM_HUMAN	C	391;243	ENSP00000318016:R391C;ENSP00000429676:R243C	ENSP00000318016:R391C	R	-	1	0	KIAA0196	126149123	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.394000	0.66285	2.647000	0.89833	0.491000	0.48974	CGC		0.363	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		A	126079941	G	A	126079941	3	1	255	1	0	0	0	0	1	0	0	0	8161	1145	40	1	2388	1	KIAA0196	8	126079941	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	60551657	126079941	20284081	31	14074											
TG	7038	hgsc.bcm.edu	37	8	133911108	133911108	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr8:133911108C>A	ENST00000220616.4	+	14	3323	c.3283C>A	c.(3283-3285)Caa>Aaa	p.Q1095K	TG_ENST00000377869.1_Missense_Mutation_p.Q1095K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1095	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.Q1095K(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCTAGATCCCAAGAAAACCC	0.552																																																1	Substitution - Missense(1)	ovary(1)	8											79	66	70					8																	133911108		2203	4300	6503	133980290	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3283C>A	8.37:g.133911108C>A	ENSP00000220616:p.Gln1095Lys		133980290	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.912|7.912	0.736654|0.736654	0.15574|0.15574	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000543313|ENST00000377869;ENST00000220616	.|T;T	.|0.62232	.|0.04;0.04	5.74|5.74	4.85|4.85	0.62838|0.62838	.|Thyroglobulin type-1 (4);	.|0.333863	.|0.25848	.|N	.|0.027910	T|T	0.50377|0.50377	0.1612|0.1612	L|L	0.55103|0.55103	1.725|1.725	0.09310|0.09310	N|N	1|1	.|B	.|0.18461	.|0.028	.|B	.|0.14578	.|0.011	T|T	0.30446|0.30446	-0.9978|-0.9978	5|10	.|0.11182	.|T	.|0.66	.|.	8.0944|8.0944	0.30820|0.30820	0.1517:0.626:0.2223:0.0|0.1517:0.626:0.2223:0.0	.|.	.|1095	.|P01266	.|THYG_HUMAN	Q|K	2|1095	.|ENSP00000367100:Q1095K;ENSP00000220616:Q1095K	.|ENSP00000220616:Q1095K	P|Q	+|+	2|1	0|0	TG|TG	133980290|133980290	0.011000|0.011000	0.17503|0.17503	0.039000|0.039000	0.18376|0.18376	0.351000|0.351000	0.29236|0.29236	1.418000|1.418000	0.34782|0.34782	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	CCA|CAA		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133911108	C	A	133911108	3	1	255	1	0	0	0	0	1	0	0	0	15813	595	21	3	3337	3	TG	8	133911108	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10	7831167	133911108	12452914	32	14075											
ALOX5	240	hgsc.bcm.edu	37	10	45891366	45891366	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr10:45891366C>G	ENST00000374391.2	+	3	466	c.413C>G	c.(412-414)aCa>aGa	p.T138R	ALOX5_ENST00000542434.1_Missense_Mutation_p.T138R	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	138	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.T138R(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GAACTGGAAACACGGCAAAAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	10											147	122	131					10																	45891366		2203	4300	6503	45211372	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.413C>G	10.37:g.45891366C>G	ENSP00000363512:p.Thr138Arg		45211372	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027825	0.35797	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.89681	-2.55;-2.55	5.96	4.01	0.46588	Lipoxygenase, C-terminal (2);	0.667656	0.15923	N	0.238040	T	0.76126	0.3944	N	0.20685	0.6	0.28583	N	0.910017	B;B;B	0.32040	0.353;0.004;0.056	B;B;B	0.20184	0.028;0.009;0.009	T	0.66578	-0.5888	10	0.25751	T	0.34	-1.6084	6.9033	0.24295	0.1726:0.7411:0.0:0.0863	.	138;138;138	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	R	138	ENSP00000437634:T138R;ENSP00000363512:T138R	ENSP00000363512:T138R	T	+	2	0	ALOX5	45211372	0.372000	0.25064	0.996000	0.52242	0.998000	0.95712	1.604000	0.36804	1.527000	0.49086	0.655000	0.94253	ACA		0.448	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			G	45891366	C	G	45891366	3	3	255	1	0	0	0	0	1	0	0	0	540	478	17	3	423	3	ALOX5	10	45891366	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10		45891366	89643381	33	14076											
CCAR1	55749	hgsc.bcm.edu	37	10	70502274	70502274	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr10:70502274A>G	ENST00000265872.6	+	6	585	c.466A>G	c.(466-468)Aaa>Gaa	p.K156E	CCAR1_ENST00000543719.1_Missense_Mutation_p.K141E|CCAR1_ENST00000535016.1_Missense_Mutation_p.K141E	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	156					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.K156E(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GGTGGTTACAAAACTACATGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	10											249	231	237					10																	70502274		2203	4300	6503	70172280	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.466A>G	10.37:g.70502274A>G	ENSP00000265872:p.Lys156Glu		70172280	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516603	0.85495	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	T;T;T;T;T	0.39787	1.6;1.06;1.06;1.11;1.42	5.82	5.82	0.92795	Nucleic acid-binding, OB-fold-like (1);	0.054856	0.64402	D	0.000001	T	0.63803	0.2542	M	0.65498	2.005	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.998	D;D;D	0.81914	0.987;0.995;0.991	T	0.66618	-0.5878	10	0.72032	D	0.01	-18.0229	16.19	0.81981	1.0:0.0:0.0:0.0	.	141;156;130	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	E	156;141;156;141;141;130	ENSP00000265872:K156E;ENSP00000441820:K141E;ENSP00000445254:K141E;ENSP00000439252:K141E;ENSP00000438610:K130E	ENSP00000265872:K156E	K	+	1	0	CCAR1	70172280	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.255000	0.95524	2.225000	0.72522	0.460000	0.39030	AAA		0.418	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		G	70502274	A	G	70502274	3	3	255	1	0	0	0	0	1	0	0	0	2730	15	1	4	484	4	CCAR1	10	70502274	Missense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10	24610908	70502274	65032473	34	14077											
BCCIP	56647	hgsc.bcm.edu	37	10	127520025	127520025	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr10:127520025C>G	ENST00000278100.6	+	5	460	c.448C>G	c.(448-450)Cta>Gta	p.L150V	BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Missense_Mutation_p.L120V|BCCIP_ENST00000368759.5_Missense_Mutation_p.L150V|BCCIP_ENST00000299130.3_Missense_Mutation_p.L150V	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	150	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)	p.L150V(1)		breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAGTTGGTTCTACGCTTCTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	10											131	122	125					10																	127520025		2203	4300	6503	127510015	SO:0001583	missense	56647			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"BRCA2 and CDKN1A-interacting protein"			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.448C>G	10.37:g.127520025C>G	ENSP00000278100:p.Leu150Val		127510015	B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170504	0.38315	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.24	4.34	0.51931	.	0.073499	0.56097	D	0.000032	T	0.46737	0.1408	L	0.58101	1.795	0.58432	D	0.999994	P;P;P;P;P	0.43607	0.793;0.752;0.708;0.812;0.65	P;B;B;B;P	0.46452	0.517;0.336;0.269;0.355;0.487	T	0.33777	-0.9855	10	0.22109	T	0.4	-28.3452	8.6829	0.34221	0.0:0.772:0.0:0.228	.	120;150;150;150;150	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	V	150;150;150;120;150	ENSP00000278100:L150V;ENSP00000299130:L150V;ENSP00000357748:L150V;ENSP00000394758:L120V	ENSP00000278100:L150V	L	+	1	2	BCCIP	127510015	0.110000	0.22057	0.949000	0.38748	0.424000	0.31475	0.537000	0.23144	1.210000	0.43336	0.650000	0.86243	CTA		0.428	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			G	127520025	C	G	127520025	3	3	255	1	0	0	0	0	1	0	0	0	1356	912	32	3	466	3	BCCIP	10	127520025	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10	57017751	127520025	8014722	35	14078											
OR10A6	390093	hgsc.bcm.edu	37	11	7949668	7949668	+	Missense_Mutation	SNP	G	G	T	rs199758044		TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr11:7949668G>T	ENST00000309838.2	-	1	541	c.542C>A	c.(541-543)aCc>aAc	p.T181N		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T181N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACTGCTGGGGTTTCACAAGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	11											44	43	44					11																	7949668		2201	4296	6497	7906244	SO:0001583	missense	390093			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.542C>A	11.37:g.7949668G>T	ENSP00000312470:p.Thr181Asn		7906244	Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068410	0.36470	.	.	ENSG00000175393	ENST00000309838	T	0.37058	1.22	4.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000424	T	0.39682	0.1087	L	0.31578	0.945	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.10382	-1.0632	10	0.59425	D	0.04	.	4.8979	0.13760	0.1086:0.0:0.6811:0.2103	.	181	Q8NH74	O10A6_HUMAN	N	181	ENSP00000312470:T181N	ENSP00000312470:T181N	T	-	2	0	OR10A6	7906244	0.000000	0.05858	0.985000	0.45067	0.622000	0.37654	0.303000	0.19210	2.405000	0.81733	0.655000	0.94253	ACC		0.368	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		T	7949668	G	T	7949668	3	4	255	1	0	0	0	0	1	0	0	0	10894	1261	44	3	405	3	OR10A6	11	7949668	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10		7949668	127056848	36	14079											
CTR9	9646	hgsc.bcm.edu	37	11	10778347	10778347	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr11:10778347A>G	ENST00000361367.2	+	5	980	c.554A>G	c.(553-555)tAc>tGc	p.Y185C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	185					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.Y185C(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCTCTTGCTTACTATAAGAAA	0.348																																																1	Substitution - Missense(1)	ovary(1)	11											111	121	118					11																	10778347		2201	4294	6495	10734923	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.554A>G	11.37:g.10778347A>G	ENSP00000355013:p.Tyr185Cys		10734923	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658487	0.47467	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T;T	0.77358	-1.09;1.18	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.113150	0.64402	D	0.000007	T	0.74306	0.3699	L	0.52905	1.665	0.80722	D	1	B	0.15930	0.015	B	0.21546	0.035	T	0.69789	-0.5050	10	0.36615	T	0.2	-13.1844	14.3561	0.66738	1.0:0.0:0.0:0.0	.	185	Q6PD62	CTR9_HUMAN	C	185;172	ENSP00000355013:Y185C;ENSP00000431458:Y172C	ENSP00000355013:Y185C	Y	+	2	0	CTR9	10734923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.311000	0.96282	2.136000	0.66102	0.383000	0.25322	TAC		0.348	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		G	10778347	A	G	10778347	3	3	255	1	0	0	0	0	1	0	0	0	4024	391	14	4	572	4	CTR9	11	10778347	Missense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10	2828679	10778347	124228169	37	14080											
MMP27	64066	hgsc.bcm.edu	37	11	102564712	102564712	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr11:102564712A>T	ENST00000260229.4	-	8	1209	c.1118T>A	c.(1117-1119)gTg>gAg	p.V373E		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	373					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V373E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TATTTTCTTCACACGTCCTGG	0.418																																																1	Substitution - Missense(1)	ovary(1)	11											150	142	145					11																	102564712		2203	4299	6502	102069922	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1118T>A	11.37:g.102564712A>T	ENSP00000260229:p.Val373Glu		102069922	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238370	0.58886	.	.	ENSG00000137675	ENST00000260229	T	0.15834	2.39	4.79	3.64	0.41730	Hemopexin/matrixin (2);	0.287996	0.24532	N	0.037706	T	0.45256	0.1333	M	0.88377	2.95	0.50039	D	0.999841	D	0.89917	1.0	D	0.85130	0.997	T	0.52426	-0.8577	10	0.87932	D	0	.	10.6059	0.45394	0.9123:0.0:0.0877:0.0	.	373	Q9H306	MMP27_HUMAN	E	373	ENSP00000260229:V373E	ENSP00000260229:V373E	V	-	2	0	MMP27	102069922	0.934000	0.31675	0.994000	0.49952	0.493000	0.33554	6.909000	0.75735	1.996000	0.58369	0.533000	0.62120	GTG		0.418	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		T	102564712	A	T	102564712	3	4	255	1	0	0	0	0	1	0	0	0	9664	159	6	5	435	5	MMP27	11	102564712	Missense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10	91786365	102564712	32441804	38	14081											
FGF6	2251	hgsc.bcm.edu	37	12	4554510	4554510	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr12:4554510C>A	ENST00000228837.2	-	1	270	c.227G>T	c.(226-228)aGt>aTt	p.S76I		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	76					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.S76I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CAAATAGCCACTTTCCCAGTT	0.657																																																1	Substitution - Missense(1)	ovary(1)	12											94	85	88					12																	4554510		2203	4300	6503	4424771	SO:0001583	missense	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.227G>T	12.37:g.4554510C>A	ENSP00000228837:p.Ser76Ile		4424771	Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135397	0.37728	.	.	ENSG00000111241	ENST00000228837	T	0.75260	-0.92	5.3	2.38	0.29361	.	0.177985	0.64402	D	0.000009	T	0.64843	0.2635	L	0.46157	1.445	0.44825	D	0.997833	P	0.38370	0.628	B	0.41271	0.352	T	0.57057	-0.7876	10	0.30078	T	0.28	.	6.1423	0.20266	0.0:0.4941:0.2504:0.2555	.	76	P10767	FGF6_HUMAN	I	76	ENSP00000228837:S76I	ENSP00000228837:S76I	S	-	2	0	FGF6	4424771	0.902000	0.30710	0.064000	0.19789	0.984000	0.73092	1.256000	0.32921	0.698000	0.31739	0.655000	0.94253	AGT		0.657	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		A	4554510	C	A	4554510	3	1	255	1	0	0	0	0	1	0	0	0	5856	565	20	3	411	3	FGF6	12	4554510	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10		4554510	129297385	39	14082											
TEP1	7011	hgsc.bcm.edu	37	14	20851455	20851455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr14:20851455G>A	ENST00000262715.5	-	27	3965	c.3925C>T	c.(3925-3927)Cag>Tag	p.Q1309*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.Q1201*|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1309	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.Q1309*(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCTGGCTCTGCTCAAGGGTC	0.617																																																1	Substitution - Nonsense(1)	ovary(1)	14											55	49	51					14																	20851455		2203	4300	6503	19921295	SO:0001587	stop_gained	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3925C>T	14.37:g.20851455G>A	ENSP00000262715:p.Gln1309*		19921295	A0AUV9	Nonsense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	41	9.151803	0.99082	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	5.63	4.55	0.56014	.	0.335334	0.28778	N	0.014180	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-12.3772	14.3716	0.66843	0.086:0.0:0.914:0.0	.	.	.	.	X	1309;1309;1201	.	ENSP00000262715:Q1309X	Q	-	1	0	TEP1	19921295	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	2.073000	0.41519	2.642000	0.89623	0.655000	0.94253	CAG		0.617	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20851455	G	A	20851455	4	1	255	1	0	0	0	0	0	1	0	0	15759	1328	46	2	4074	2	TEP1	14	20851455	Nonsense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10		20851455	86498085	40	14083											
PRKCH	5583	hgsc.bcm.edu	37	14	61924287	61924287	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr14:61924287G>A	ENST00000332981.5	+	9	1553	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	PRKCH_ENST00000555082.1_Missense_Mutation_p.V229M	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.V390M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GAAGAAGGACGTGATTCTGCA	0.502																																					Melanoma(135;863 1779 8064 14443 26348)											1	Substitution - Missense(1)	ovary(1)	14											254	236	242					14																	61924287		2203	4300	6503	60994040	SO:0001583	missense	5583			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1168G>A	14.37:g.61924287G>A	ENSP00000329127:p.Val390Met		60994040	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925072	0.73213	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.65732	-0.17;-0.17	5.74	5.74	0.90152	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	0.64402	D	0.000014	T	0.67664	0.2917	N	0.16478	0.41	0.52501	D	0.999953	D	0.89917	1.0	D	0.66196	0.942	T	0.72516	-0.4269	10	0.87932	D	0	.	19.9357	0.97140	0.0:0.0:1.0:0.0	.	390	P24723	KPCL_HUMAN	M	390;229	ENSP00000329127:V390M;ENSP00000450981:V229M	ENSP00000329127:V390M	V	+	1	0	PRKCH	60994040	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.541000	0.60670	2.715000	0.92844	0.655000	0.94253	GTG		0.502	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		A	61924287	G	A	61924287	3	1	255	1	0	0	0	0	1	0	0	0	12516	1145	40	1	1202	1	PRKCH	14	61924287	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	41072832	61924287	45425253	41	14084											
EML5	161436	hgsc.bcm.edu	37	14	89151472	89151472	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr14:89151472C>A	ENST00000380664.5	-	20	2868	c.2869G>T	c.(2869-2871)Gat>Tat	p.D957Y	EML5_ENST00000352093.5_Missense_Mutation_p.D919Y|EML5_ENST00000554922.1_Missense_Mutation_p.D957Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	957						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.D957Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GATGGATTATCTTCCAAGAGA	0.328																																																1	Substitution - Missense(1)	ovary(1)	14											116	105	109					14																	89151472		1836	4087	5923	88221225	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2869G>T	14.37:g.89151472C>A	ENSP00000370039:p.Asp957Tyr		88221225	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212553	0.79240	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.52983	1.58;0.64;0.96	4.96	4.96	0.65561	Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70795	-0.4775	10	0.44086	T	0.13	-20.7037	17.9806	0.89140	0.0:1.0:0.0:0.0	.	957;957	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	Y	957;919;957	ENSP00000451998:D957Y;ENSP00000298315:D919Y;ENSP00000370039:D957Y	ENSP00000298315:D919Y	D	-	1	0	EML5	88221225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.288000	0.78691	2.584000	0.87258	0.591000	0.81541	GAT		0.328	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			A	89151472	C	A	89151472	3	1	255	1	0	0	0	0	1	0	0	0	5100	913	32	3	3160	3	EML5	14	89151472	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10	27227185	89151472	18198068	42	14085											
MTFMT	123263	hgsc.bcm.edu	37	15	65308791	65308791	+	Missense_Mutation	SNP	G	G	T	rs35302908	byFrequency	TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr15:65308791G>T	ENST00000220058.4	-	6	809	c.796C>A	c.(796-798)Cgt>Agt	p.R266S		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	266						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)	p.R266S(3)		endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CCAATGGCACGGTAAAGTCTG	0.348																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	15											152	150	151					15																	65308791		1830	4092	5922	63095844	SO:0001583	missense	123263			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.796C>A	15.37:g.65308791G>T	ENSP00000220058:p.Arg266Ser		63095844	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182684	0.78677	.	.	ENSG00000103707	ENST00000220058	T	0.61158	0.13	5.76	5.76	0.90799	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.117685	0.64402	D	0.000014	T	0.79106	0.4390	M	0.85373	2.75	0.22171	P	0.999315666	D	0.76494	0.999	D	0.74023	0.982	T	0.81965	-0.0691	9	0.87932	D	0	-1.4501	17.4567	0.87609	0.0:0.0:1.0:0.0	.	266	Q96DP5	FMT_HUMAN	S	266	ENSP00000220058:R266S	ENSP00000220058:R266S	R	-	1	0	MTFMT	63095844	1.000000	0.71417	0.937000	0.37676	0.576000	0.36127	7.455000	0.80726	2.695000	0.91970	0.563000	0.77884	CGT		0.348	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		T	65308791	G	T	65308791	3	4	255	1	0	0	0	0	1	0	0	0	9924	1116	39	3	389	3	MTFMT	15	65308791	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10		65308791	37222601	43	14086											
IL16	3603	hgsc.bcm.edu	37	15	81585328	81585328	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr15:81585328A>G	ENST00000302987.4	+	11	1852	c.1852A>G	c.(1852-1854)Aga>Gga	p.R618G	IL16_ENST00000394660.2_Missense_Mutation_p.R618G			Q14005	IL16_HUMAN	interleukin 16	618					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCTGGAAGAGAGAGAGAACTC	0.507																																																0			15											40	40	40					15																	81585328		1864	4108	5972	79372383	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1852A>G	15.37:g.81585328A>G	ENSP00000302935:p.Arg618Gly		79372383	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	A	9.337	1.062116	0.19987	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842	T;T	0.10382	2.88;2.88	4.78	1.05	0.20165	.	0.671079	0.13153	N	0.409756	T	0.08582	0.0213	L	0.41236	1.265	0.18873	N	0.999986	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.30060	-0.9991	10	0.56958	D	0.05	.	5.1572	0.15040	0.6876:0.1521:0.1603:0.0	.	112;618;618	Q6ZTT5;Q14005;Q14005-2	.;IL16_HUMAN;.	G	618;450;618;155	ENSP00000378155:R618G;ENSP00000302935:R618G	ENSP00000302935:R618G	R	+	1	2	IL16	79372383	0.036000	0.19791	0.002000	0.10522	0.516000	0.34256	1.543000	0.36147	0.010000	0.14839	0.459000	0.35465	AGA		0.507	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		G	81585328	A	G	81585328	3	3	255	1	0	0	0	0	1	0	0	0	7633	296	11	4	1894	4	IL16	15	81585328	Missense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10	16276537	81585328	20946064	44	14087											
TNRC6A	27327	hgsc.bcm.edu	37	16	24801546	24801546	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr16:24801546A>G	ENST00000395799.3	+	6	1712	c.1583A>G	c.(1582-1584)aAt>aGt	p.N528S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N528S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	528	Interaction with argonaute family proteins.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N528S(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TATGGTTCTAATTACTCTGGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	16											125	123	124					16																	24801546		2197	4300	6497	24709047	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1583A>G	16.37:g.24801546A>G	ENSP00000379144:p.Asn528Ser		24709047	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	5.305	0.241734	0.10077	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11169	2.8;2.8	5.49	1.92	0.25849	.	0.248924	0.40144	N	0.001162	T	0.05090	0.0136	N	0.19112	0.55	0.80722	D	1	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.39121	-0.9629	10	0.08837	T	0.75	-1.0289	5.4465	0.16537	0.4868:0.2516:0.2617:0.0	.	275;528;528	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	S	528	ENSP00000326900:N528S;ENSP00000379144:N528S	ENSP00000326900:N528S	N	+	2	0	TNRC6A	24709047	0.999000	0.42202	0.984000	0.44739	0.869000	0.49853	1.125000	0.31332	0.102000	0.17638	0.460000	0.39030	AAT		0.473	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		G	24801546	A	G	24801546	3	3	255	1	0	0	0	0	1	0	0	0	16340	101	4	4	1605	4	TNRC6A	16	24801546	Missense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10		24801546	65553207	45	14088											
DUS2L	54920	hgsc.bcm.edu	37	16	68110598	68110599	+	Frame_Shift_Del	DEL	GT	GT	-	rs537723472		TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr16:68110598_68110599delGT	ENST00000565263.1	+	15	1640_1641	c.1146_1147delGT	c.(1144-1149)aagttgfs	p.KL382fs	DUS2_ENST00000358896.6_Frame_Shift_Del_p.KL382fs|RP11-67A1.2_ENST00000548144.1_RNA|DUS2_ENST00000432752.1_Frame_Shift_Del_p.KL347fs	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	382	DRBM.				negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)	p.K382fs*7(1)									GGAGGGAGAAGTTGGCACAGCC	0.579																																																1	Deletion - Frameshift(1)	ovary(1)	16																																								66668100	SO:0001589	frameshift_variant	54920				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.1146_1147delGT	16.37:g.68110598_68110599delGT	ENSP00000455229:p.Lys382fs		66668099	A8K3G3|Q4H4D9	Frame_Shift_Del	DEL	ENST00000565263.1	37	CCDS10859.1																																																																																				0.579	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		-	68110599	GT	-	68110598	7	5	255	1	0	1	0	1	0	0	0	0	4806	1020	36	0	1196	0	DUS2L	16	68110598	Frame_Shift_Del	DEL	GT	TCGA-24-1604-01A-01W-0552-10	43309052	68110598	22244155	46	14089											
TP53	7157	hgsc.bcm.edu	37	17	7576927	7576927	+	Splice_Site	SNP	C	C	T	rs587781702		TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr17:7576927C>T	ENST00000269305.4	-	9	1109		c.e9-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	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						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.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TTGGGCAGTGCTAGGAAAGAG	0.493		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"	30	Unknown(20)|Whole gene deletion(8)|Deletion - Frameshift(2)	upper_aerodigestive_tract(7)|ovary(5)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|liver(2)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(1)	17											138	124	129					17																	7576927		2203	4300	6503	7517652	SO:0001630	splice_region_variant	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.920-1G>A	17.37:g.7576927C>T			7517652	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168861	0.21621	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0356	0.58870	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517652	0.043000	0.20138	0.996000	0.52242	0.305000	0.27757	0.852000	0.27764	2.462000	0.83206	0.561000	0.74099	.		0.493	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7576927	C	T	7576927	5	4	255	1	0	0	0	0	0	0	1	0	16381	811	28	2	363	2	TP53	17	7576927	Splice_Site	SNP	C	TCGA-24-1604-01A-01W-0552-10		7576927	73618283	47	14090											
CHAD	1101	hgsc.bcm.edu	37	17	48545482	48545482	+	Silent	SNP	C	C	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr17:48545482C>G	ENST00000508540.1	-	1	845	c.693G>C	c.(691-693)ctG>ctC	p.L231L	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Silent_p.L231L|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	231					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.L231L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGATGCTTTTCAGGGGGTTGT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	17											120	111	114					17																	48545482		2203	4300	6503	45900481	SO:0001819	synonymous_variant	1101			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.693G>C	17.37:g.48545482C>G			45900481	A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	CCDS11568.1																																																																																				0.592	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		G	48545482	C	G	48545482	2	3	255	1	0	0	0	0	0	0	0	1	3310	813	29	3		3	CHAD	17	48545482	Silent	SNP	C	TCGA-24-1604-01A-01W-0552-10	40968555	48545482	32649728	48	14091											
ACE	1636	hgsc.bcm.edu	37	17	61560856	61560856	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr17:61560856G>A	ENST00000290866.4	+	10	1547	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q	ACE_ENST00000290863.6_5'Flank|ACE_ENST00000538928.1_Missense_Mutation_p.E460K|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.R508Q|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000577647.1_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	508	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.R508Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGTTACCCGAAACGAAACC	0.468																																																1	Substitution - Missense(1)	ovary(1)	17											137	127	130					17																	61560856		2203	4300	6503	58914588	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1523G>A	17.37:g.61560856G>A	ENSP00000290866:p.Arg508Gln		58914588	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.660426|4.660426	0.88154|0.88154	.|.	.|.	ENSG00000159640|ENSG00000159640	ENST00000538928|ENST00000290866;ENST00000428043	T|T;T	0.32272|0.47528	1.46|0.84;0.84	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80623|0.80623	0.4658|0.4658	H|H	0.97291|0.97291	3.975|3.975	0.80722|0.80722	D|D	1|1	P|D;D	0.44946|0.89917	0.846|1.0;1.0	B|D;D	0.39738|0.91635	0.308|0.999;0.999	D|D	0.87947|0.87947	0.2721|0.2721	9|10	0.87932|0.87932	D|D	0|0	-10.8505|-10.8505	18.2715|18.2715	0.90070|0.90070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	460|508;508	F5H1K1|P12821-2;P12821	.|.;ACE_HUMAN	K|Q	460|508	ENSP00000439591:E460K|ENSP00000290866:R508Q;ENSP00000397593:R508Q	ENSP00000439591:E460K|ENSP00000290866:R508Q	E|R	+|+	1|2	0|0	ACE|ACE	58914588|58914588	1.000000|1.000000	0.71417|0.71417	0.364000|0.364000	0.25888|0.25888	0.535000|0.535000	0.34838|0.34838	8.719000|8.719000	0.91436|0.91436	2.541000|2.541000	0.85698|0.85698	0.455000|0.455000	0.32223|0.32223	GAA|CGA		0.468	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			A	61560856	G	A	61560856	3	1	255	1	0	0	0	0	1	0	0	0	136	1058	37	1	1561	1	ACE	17	61560856	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	13015374	61560856	19634354	49	14092											
RNF213	57674	hgsc.bcm.edu	37	17	78363028	78363028	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr17:78363028G>A	ENST00000582970.1	+	65	15199	c.15056G>A	c.(15055-15057)aGc>aAc	p.S5019N	RNF213_ENST00000336301.6_Missense_Mutation_p.S3092N|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.S5068N|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5019					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S3092N(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGTCCTACAGCGATGCCTGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	17											137	120	126					17																	78363028		2203	4300	6503	75977623	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15056G>A	17.37:g.78363028G>A	ENSP00000464087:p.Ser5019Asn		75977623	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128685	0.77549	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.24723	1.84	5.39	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.83692	2.655	0.34625	D	0.718991	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.94	T	0.72724	-0.4207	10	0.72032	D	0.01	.	16.1563	0.81670	0.0:0.1336:0.8664:0.0	.	5019;3092	D6RI12;Q63HN8	.;RN213_HUMAN	N	5019;5068;3092;369	ENSP00000338218:S3092N	ENSP00000338218:S3092N	S	+	2	0	RNF213	75977623	1.000000	0.71417	0.865000	0.33974	0.610000	0.37248	3.318000	0.51975	1.246000	0.43901	0.655000	0.94253	AGC		0.537	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78363028	G	A	78363028	3	1	255	1	0	0	0	0	1	0	0	0	13480	971	34	2	15629	2	RNF213	17	78363028	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	16802172	78363028	2832182	50	14093											
GALNT1	2589	hgsc.bcm.edu	37	18	33267020	33267020	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr18:33267020G>A	ENST00000269195.5	+	5	833	c.730G>A	c.(730-732)Gat>Aat	p.D244N	GALNT1_ENST00000537549.1_Missense_Mutation_p.D184N	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	244					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D244N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GATCAGTGATGATACTTTTGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	18											220	186	198					18																	33267020		2203	4300	6503	31521018	SO:0001583	missense	2589				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.730G>A	18.37:g.33267020G>A	ENSP00000269195:p.Asp244Asn		31521018	Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861785	0.71949	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.60171	0.21;0.21	5.5	5.5	0.81552	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	L	0.42529	1.33	0.80722	D	1	B	0.17268	0.021	B	0.23716	0.048	T	0.43782	-0.9370	10	0.25751	T	0.34	.	16.8858	0.86075	0.0:0.0:1.0:0.0	.	244	Q10472	GALT1_HUMAN	N	244;244;184	ENSP00000269195:D244N;ENSP00000440910:D184N	ENSP00000269195:D244N	D	+	1	0	GALNT1	31521018	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.869000	0.99810	2.595000	0.87683	0.585000	0.79938	GAT		0.418	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		A	33267020	G	A	33267020	3	1	255	1	0	0	0	0	1	0	0	0	6207	1290	45	2	748	2	GALNT1	18	33267020	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10		33267020	44810228	51	14094											
MYO1F	4542	hgsc.bcm.edu	37	19	8616669	8616669	+	Silent	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr19:8616669G>A	ENST00000338257.8	-	8	993	c.726C>T	c.(724-726)taC>taT	p.Y242Y	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	242	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Y242Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGTCCACCTGGTAGGTGTCCG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	19											148	153	152					19																	8616669		2073	4205	6278	8522669	SO:0001819	synonymous_variant	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.726C>T	19.37:g.8616669G>A			8522669	Q8WWN7	Silent	SNP	ENST00000338257.8	37	CCDS42494.1																																																																																				0.607	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			A	8616669	G	A	8616669	2	1	255	1	0	0	0	0	0	0	0	1	10073	1256	44	2		2	MYO1F	19	8616669	Silent	SNP	G	TCGA-24-1604-01A-01W-0552-10		8616669	50512314	52	14095											
SMARCA4	6597	hgsc.bcm.edu	37	19	11113731	11113731	+	Silent	SNP	C	C	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr19:11113731C>T	ENST00000429416.3	+	13	2120	c.1839C>T	c.(1837-1839)agC>agT	p.S613S	SMARCA4_ENST00000541122.2_Silent_p.S613S|SMARCA4_ENST00000450717.3_Silent_p.S613S|SMARCA4_ENST00000344626.4_Silent_p.S613S|SMARCA4_ENST00000358026.2_Silent_p.S613S|SMARCA4_ENST00000444061.3_Silent_p.S613S|SMARCA4_ENST00000590574.1_Silent_p.S613S|SMARCA4_ENST00000413806.3_Silent_p.S613S|SMARCA4_ENST00000589677.1_Silent_p.S613S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	613					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)|p.S613S(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCAGATGAGCGACCTCCCGG	0.592			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	2	Unknown(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	19											83	79	81					19																	11113731		2203	4300	6503	10974731	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1839C>T	19.37:g.11113731C>T			10974731	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																				0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11113731	C	T	11113731	2	4	255	1	0	0	0	0	0	0	0	1	14773	767	27	1		1	SMARCA4	19	11113731	Silent	SNP	C	TCGA-24-1604-01A-01W-0552-10	2497062	11113731	48015252	53	14096											
DPY19L3	147991	hgsc.bcm.edu	37	19	32955670	32955670	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr19:32955670C>G	ENST00000342179.5	+	15	1809	c.1594C>G	c.(1594-1596)Ctg>Gtg	p.L532V	DPY19L3_ENST00000392250.2_Missense_Mutation_p.L532V|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.L532V	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	532						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L532V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GATATTAATACTGCTGTATCT	0.269																																																1	Substitution - Missense(1)	ovary(1)	19											114	107	109					19																	32955670		2201	4299	6500	37647510	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1594C>G	19.37:g.32955670C>G	ENSP00000344937:p.Leu532Val		37647510	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564575	0.45694	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.58506	0.33;0.33	5.24	5.24	0.73138	.	0.236010	0.37219	N	0.002199	T	0.53077	0.1774	L	0.53249	1.67	0.45733	D	0.998636	B	0.32324	0.364	B	0.32624	0.149	T	0.51903	-0.8646	10	0.32370	T	0.25	-6.9876	14.3099	0.66410	0.0:1.0:0.0:0.0	.	532	Q6ZPD9	D19L3_HUMAN	V	532	ENSP00000376081:L532V;ENSP00000344937:L532V	ENSP00000315672:L532V	L	+	1	2	DPY19L3	37647510	0.990000	0.36364	0.998000	0.56505	0.982000	0.71751	1.329000	0.33770	2.442000	0.82660	0.557000	0.71058	CTG		0.269	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		G	32955670	C	G	32955670	3	3	255	1	0	0	0	0	1	0	0	0	4742	564	20	3	1648	3	DPY19L3	19	32955670	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10	21841939	32955670	26173313	54	14097											
GEMIN7	79760	hgsc.bcm.edu	37	19	45593511	45593511	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr19:45593511G>T	ENST00000270257.4	+	3	386	c.139G>T	c.(139-141)Gct>Tct	p.A47S	GEMIN7_ENST00000391951.2_Missense_Mutation_p.A47S|CTB-179K24.3_ENST00000586556.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000591607.1_Missense_Mutation_p.A47S|GEMIN7_ENST00000591747.1_Missense_Mutation_p.A47S|CTB-179K24.3_ENST00000586744.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	47					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.A47S(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GTGTCCCATAGCTCAAGAATC	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											46	47	46					19																	45593511		2203	4300	6503	50285351	SO:0001583	missense	79760			AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.139G>T	19.37:g.45593511G>T	ENSP00000270257:p.Ala47Ser		50285351	Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	G	7.058	0.565792	0.13560	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	3.77	-1.68	0.08212	.	1.380780	0.04860	N	0.444000	T	0.15435	0.0372	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.16689	-1.0394	9	0.09338	T	0.73	-16.5092	4.1665	0.10308	0.2468:0.3518:0.4015:0.0	.	47	Q9H840	GEMI7_HUMAN	S	47	.	ENSP00000270257:A47S	A	+	1	0	GEMIN7	50285351	0.001000	0.12720	0.000000	0.03702	0.527000	0.34593	0.071000	0.14594	-0.412000	0.07519	0.555000	0.69702	GCT		0.642	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			T	45593511	G	T	45593511	3	4	255	1	0	0	0	0	1	0	0	0	6333	971	34	3	141	3	GEMIN7	19	45593511	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	12637841	45593511	13535472	55	14098											
C19orf75	284369	hgsc.bcm.edu	37	19	51768858	51768858	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr19:51768858A>T	ENST00000316401.7	+	3	640	c.259A>T	c.(259-261)Aag>Tag	p.K87*	SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	449	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.K87*(1)									CTGTGAGGGGAAGAACCAAAA	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	19											95	91	92					19																	51768858		2203	4300	6503	56460670	SO:0001587	stop_gained	284369			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 75", "sialic acid binding Ig-like lectin 23, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 7"	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.259A>T	19.37:g.51768858A>T	ENSP00000321249:p.Lys87*		56460670	Q8IYH7	Nonsense_Mutation	SNP	ENST00000316401.7	37	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	A	31	5.064183	0.93898	.	.	ENSG00000179213	ENST00000316401	.	.	.	3.83	3.83	0.44106	.	0.000000	0.40064	N	0.001189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1757	0.37109	1.0:0.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000321249:K87X	K	+	1	0	C19orf75	56460670	0.740000	0.28207	0.856000	0.33681	0.098000	0.18820	2.224000	0.42945	1.721000	0.51461	0.455000	0.32223	AAG		0.552	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		T	51768858	A	T	51768858	4	4	255	1	0	0	0	0	0	1	0	0	1949	247	9	5	265	5	C19orf75	19	51768858	Nonsense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10	6175347	51768858	7360125	56	14099											
BMP2	650	hgsc.bcm.edu	37	20	6758978	6758978	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr20:6758978A>C	ENST00000378827.4	+	3	1652	c.433A>C	c.(433-435)Atc>Ctc	p.I145L		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	145					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)	p.I145L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GGAGGAGTTTATCACCTCAGC	0.378																																																1	Substitution - Missense(1)	ovary(1)	20											56	59	58					20																	6758978		2203	4300	6503	6706978	SO:0001583	missense	650				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.433A>C	20.37:g.6758978A>C	ENSP00000368104:p.Ile145Leu		6706978		Missense_Mutation	SNP	ENST00000378827.4	37	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	A	7.990	0.753148	0.15778	.	.	ENSG00000125845	ENST00000378827	T	0.61742	0.08	5.86	1.04	0.20106	Transforming growth factor-beta, N-terminal (1);	0.269566	0.45126	N	0.000394	T	0.34454	0.0898	N	0.17922	0.545	0.25316	N	0.989154	B	0.02656	0.0	B	0.10450	0.005	T	0.20638	-1.0269	10	0.12103	T	0.63	.	8.107	0.30892	0.5943:0.1049:0.3008:0.0	.	145	P12643	BMP2_HUMAN	L	145	ENSP00000368104:I145L	ENSP00000368104:I145L	I	+	1	0	BMP2	6706978	0.993000	0.37304	0.923000	0.36655	0.905000	0.53344	0.596000	0.24044	-0.261000	0.09405	-1.162000	0.01777	ATC		0.378	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			C	6758978	A	C	6758978	3	2	255	1	0	0	0	0	1	0	0	0	1459	449	16	5	439	5	BMP2	20	6758978	Missense_Mutation	SNP	A	TCGA-24-1604-01A-01W-0552-10		6758978	56266542	57	14100											
SAMSN1	64092	hgsc.bcm.edu	37	21	15889331	15889331	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr21:15889331C>T	ENST00000400566.1	-	3	242	c.161G>A	c.(160-162)gGa>gAa	p.G54E	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.G122E	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	54					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.G54E(1)|p.G54V(1)|p.G122V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACTTTGTTCTCCACTTCCATT	0.318																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	21											121	103	109					21																	15889331		1806	4078	5884	14811202	SO:0001583	missense	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.161G>A	21.37:g.15889331C>T	ENSP00000383411:p.Gly54Glu		14811202	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.784697	0.00628	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.38401	1.14;1.14	4.97	-2.29	0.06805	.	0.660362	0.15682	N	0.249841	T	0.16471	0.0396	N	0.20807	0.61	0.25974	N	0.98247	B;B	0.19583	0.037;0.008	B;B	0.19148	0.024;0.015	T	0.31530	-0.9940	10	0.10902	T	0.67	-9.7997	6.7319	0.23388	0.0:0.3909:0.1203:0.4888	.	122;54	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	E	122;54	ENSP00000285670:G122E;ENSP00000383411:G54E	ENSP00000285670:G122E	G	-	2	0	SAMSN1	14811202	0.936000	0.31750	0.864000	0.33941	0.178000	0.23041	0.339000	0.19875	-0.436000	0.07254	0.655000	0.94253	GGA		0.318	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			T	15889331	C	T	15889331	3	4	255	1	0	0	0	0	1	0	0	0	13833	855	30	2	984	2	SAMSN1	21	15889331	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10		15889331	32240564	58	14101											
PRMT2	3275	hgsc.bcm.edu	37	21	48064295	48064295	+	Silent	SNP	C	C	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr21:48064295C>T	ENST00000397637.1	+	4	1176	c.222C>T	c.(220-222)ggC>ggT	p.G74G	PRMT2_ENST00000451211.2_Silent_p.G74G|PRMT2_ENST00000440086.1_Silent_p.G74G|PRMT2_ENST00000355680.3_Silent_p.G74G|PRMT2_ENST00000334494.4_Silent_p.G74G|PRMT2_ENST00000397638.2_Silent_p.G74G|PRMT2_ENST00000458387.2_Silent_p.G74G|PRMT2_ENST00000397628.1_Silent_p.G74G|PRMT2_ENST00000291705.6_Silent_p.G74G			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	74	Interaction with ESR1.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.G74G(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AGCGTGCGGGCTGCTGTGGGT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	21											116	110	112					21																	48064295		2203	4300	6503	46888723	SO:0001819	synonymous_variant	3275			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.222C>T	21.37:g.48064295C>T			46888723	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Silent	SNP	ENST00000397637.1	37	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	C	2.267	-0.367986	0.05069	.	.	ENSG00000160310	ENST00000455177	.	.	.	5.4	1.43	0.22495	.	.	.	.	.	T	0.52484	0.1737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40384	-0.9566	4	.	.	.	-17.1493	5.9022	0.18972	0.0:0.6167:0.1414:0.2419	.	.	.	.	V	14	.	.	A	+	2	0	PRMT2	46888723	0.999000	0.42202	0.972000	0.41901	0.037000	0.13140	0.438000	0.21559	0.321000	0.23259	0.591000	0.81541	GCT		0.488	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		T	48064295	C	T	48064295	2	4	255	1	0	0	0	0	0	0	0	1	12540	784	28	2		2	PRMT2	21	48064295	Silent	SNP	C	TCGA-24-1604-01A-01W-0552-10	32174964	48064295	65600	59	14102											
ADRBK2	157	hgsc.bcm.edu	37	22	26118326	26118326	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr22:26118326G>C	ENST00000324198.6	+	21	2168	c.1976G>C	c.(1975-1977)cGt>cCt	p.R659P		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	659					receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.R659P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CGGCTATTGCGTCGTGCCCCG	0.542																																																1	Substitution - Missense(1)	ovary(1)	22											109	103	105					22																	26118326		2203	4300	6503	24448326	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1976G>C	22.37:g.26118326G>C	ENSP00000317578:p.Arg659Pro		24448326	Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825113	0.50739	.	.	ENSG00000100077	ENST00000324198	T	0.58506	0.33	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	N	0.08118	0	0.80722	D	1	P	0.43885	0.82	P	0.45449	0.481	T	0.51036	-0.8756	10	0.40728	T	0.16	-14.5486	18.1943	0.89815	0.0:0.0:1.0:0.0	.	659	P35626	ARBK2_HUMAN	P	659	ENSP00000317578:R659P	ENSP00000317578:R659P	R	+	2	0	ADRBK2	24448326	1.000000	0.71417	0.060000	0.19600	0.001000	0.01503	6.977000	0.76141	2.536000	0.85505	0.650000	0.86243	CGT		0.542	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		C	26118326	G	C	26118326	3	2	255	1	0	0	0	0	1	0	0	0	344	1145	40	3	2058	3	ADRBK2	22	26118326	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10		26118326	25186240	60	14103											
APOL3	80833	hgsc.bcm.edu	37	22	36556809	36556809	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chr22:36556809G>T	ENST00000349314.2	-	1	168	c.131C>A	c.(130-132)tCt>tAt	p.S44Y	APOL3_ENST00000397293.2_De_novo_Start_InFrame|APOL3_ENST00000397287.2_De_novo_Start_OutOfFrame|APOL3_ENST00000361710.2_De_novo_Start_OutOfFrame|APOL3_ENST00000424878.2_De_novo_Start_OutOfFrame	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	44					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)	p.S44Y(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						ATAATAACCAGACACGTTCTC	0.483																																																1	Substitution - Missense(1)	ovary(1)	22											145	120	129					22																	36556809		2203	4300	6503	34886755	SO:0001583	missense	80833			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"Apolipoproteins"	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.131C>A	22.37:g.36556809G>T	ENSP00000344577:p.Ser44Tyr		34886755	B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794931	0.16327	.	.	ENSG00000128284	ENST00000349314;ENST00000531095	T;T	0.62639	3.54;0.01	2.76	-2.17	0.07059	.	3.302060	0.02038	N	0.049086	T	0.38453	0.1041	N	0.08118	0	0.19575	N	0.999966	P	0.50528	0.936	B	0.39590	0.304	T	0.39418	-0.9615	10	0.87932	D	0	.	4.1285	0.10138	0.258:0.4083:0.3336:0.0	.	44	O95236	APOL3_HUMAN	Y	44;8	ENSP00000344577:S44Y;ENSP00000432271:S8Y	ENSP00000344577:S44Y	S	-	2	0	APOL3	34886755	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.042000	0.13949	-0.357000	0.08175	-0.199000	0.12753	TCT		0.483	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		T	36556809	G	T	36556809	3	4	255	1	0	0	0	0	1	0	0	0	807	942	33	3	1089	3	APOL3	22	36556809	Missense_Mutation	SNP	G	TCGA-24-1604-01A-01W-0552-10	10438483	36556809	14747757	61	14104											
KDM5C	8242	hgsc.bcm.edu	37	X	53254005	53254005	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chrX:53254005C>G	ENST00000375401.3	-	1	599	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	KDM5C_ENST00000375379.3_Missense_Mutation_p.E23Q|KDM5C_ENST00000452825.3_Missense_Mutation_p.E23Q|KDM5C_ENST00000375383.3_Missense_Mutation_p.E23Q|KDM5C_ENST00000404049.3_Missense_Mutation_p.E23Q	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	23	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.			E -> G (in Ref. 2; BAG65494). {ECO:0000305}.	histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E23K(2)|p.E23Q(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCTCGGAACTCGGCCCAGCTA	0.667			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	3	Substitution - Missense(3)	lung(2)|ovary(1)	X											42	36	38					X																	53254005		2203	4300	6503	53270730	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.67G>C	X.37:g.53254005C>G	ENSP00000364550:p.Glu23Gln		53270730	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237987	0.79800	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	4.94	4.94	0.65067	Transcription factor jumonji, JmjN (3);	0.104953	0.64402	D	0.000005	T	0.69744	0.3145	M	0.66506	2.035	0.47621	D	0.999471	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.81914	0.995;0.979;0.979	T	0.72083	-0.4397	10	0.59425	D	0.04	-6.3804	14.6974	0.69132	0.0:1.0:0.0:0.0	.	23;23;23	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	Q	23	ENSP00000445176:E23Q;ENSP00000364550:E23Q;ENSP00000385394:E23Q;ENSP00000364528:E23Q;ENSP00000364532:E23Q	ENSP00000344004:E23Q	E	-	1	0	KDM5C	53270730	1.000000	0.71417	0.967000	0.41034	0.987000	0.75469	7.044000	0.76578	2.441000	0.82636	0.600000	0.82982	GAG		0.667	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		G	53254005	C	G	53254005	3	3	255	1	0	0	0	0	1	0	0	0	8135	893	31	3	4817	3	KDM5C	23	53254005	Missense_Mutation	SNP	C	TCGA-24-1604-01A-01W-0552-10		53254005	102016555	62	14105											
ITM2A	9452	hgsc.bcm.edu	37	X	78616971	78616971	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chrX:78616971delG	ENST00000373298.2	-	5	701	c.558delC	c.(556-558)ggcfs	p.G186fs	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Frame_Shift_Del_p.G142fs	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	186	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)		p.R187fs*13(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGATATCTGCCACTCTAAA	0.343																																																1	Deletion - Frameshift(1)	ovary(1)	X											49	45	46					X																	78616971		2201	4296	6497	78503627	SO:0001589	frameshift_variant	9452			BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"BRICHOS domain containing"	6173	protein-coding gene	gene with protein product	"BRICHOS domain containing 2A"	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.558delC	X.37:g.78616971delG	ENSP00000362395:p.Gly186fs		78503627	B2R7X5|B4E062|Q6IBC9	Frame_Shift_Del	DEL	ENST00000373298.2	37	CCDS14444.1																																																																																				0.343	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		-	78616971	G	-	78616971	7	5	255	1	0	1	0	1	0	0	0	0	7912	1306	46	0	241	0	ITM2A	23	78616971	Frame_Shift_Del	DEL	G	TCGA-24-1604-01A-01W-0552-10	25362966	78616971	76653589	63	14106											
TRMT2B	79979	hgsc.bcm.edu	37	X	100276968	100276968	+	Silent	SNP	G	G	A			TCGA-24-1604-01A-01W-0552-10	TCGA-24-1604-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	7d290bd2-99bd-4d84-8237-2f543ed17ce8	4058b507-695a-4f68-9930-63462d73c2e2	g.chrX:100276968G>A	ENST00000372936.3	-	9	1612	c.840C>T	c.(838-840)taC>taT	p.Y280Y	TRMT2B_ENST00000372939.1_Silent_p.Y235Y|TRMT2B_ENST00000338687.7_Silent_p.Y235Y|TRMT2B_ENST00000372935.1_Silent_p.Y280Y|TRMT2B_ENST00000545398.1_Silent_p.Y280Y|TRMT2B_ENST00000372931.5_Silent_p.Y280Y|TRMT2B_ENST00000478422.1_5'Flank	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	280						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)	p.Y280Y(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TTTCCTGGAAGTAAAGTGAGG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	X											70	65	67					X																	100276968		2203	4300	6503	100163624	SO:0001819	synonymous_variant	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.840C>T	X.37:g.100276968G>A			100163624	A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Silent	SNP	ENST00000372936.3	37	CCDS14477.1																																																																																				0.488	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		A	100276968	G	A	100276968	2	1	255	1	0	0	0	0	0	0	0	1	16566	1024	36	2		2	TRMT2B	23	100276968	Silent	SNP	G	TCGA-24-1604-01A-01W-0552-10	21659997	100276968	54993592	64	14107											
PPT1	5538	hgsc.bcm.edu	37	1	40546070	40546070	+	Splice_Site	SNP	C	C	T	rs201265025		TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr1:40546070C>T	ENST00000433473.3	-	6	1090	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	PPT1_ENST00000372775.2_5'Flank|PPT1_ENST00000449045.2_Splice_Site_p.R106Q|PPT1_ENST00000530076.1_5'UTR	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	209					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)	p.R209L(1)|p.R209Q(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTGCTTACCCGCTCCTGATT	0.478																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											235	228	230					1																	40546070		2203	4300	6503	40318657	SO:0001630	splice_region_variant	5538			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.627+1G>A	1.37:g.40546070C>T			40318657	B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	CCDS447.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360338	0.61403	.	.	ENSG00000131238	ENST00000433473;ENST00000449045;ENST00000439754;ENST00000372779	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.43	5.43	0.79202	.	0.087834	0.64402	D	0.000001	D	0.96383	0.8820	M	0.80332	2.49	0.80722	D	1	B;B;B	0.29805	0.003;0.257;0.034	B;B;B	0.25291	0.003;0.059;0.017	D	0.95046	0.8182	10	0.33141	T	0.24	-9.283	18.608	0.91273	0.0:1.0:0.0:0.0	.	106;159;209	P50897-2;B4DWU3;P50897	.;.;PPT1_HUMAN	Q	209;106;104;238	ENSP00000394863:R209Q;ENSP00000392293:R106Q;ENSP00000403207:R104Q;ENSP00000361865:R238Q	ENSP00000361865:R238Q	R	-	2	0	PPT1	40318657	1.000000	0.71417	0.999000	0.59377	0.695000	0.40330	3.256000	0.51492	2.719000	0.93026	0.655000	0.94253	CGG		0.478	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310	Missense_Mutation	T	40546070	C	T	40546070	5	4	256	1	0	0	0	0	0	0	1	0	12414	666	23	1	310	1	PPT1	1	40546070	Splice_Site	SNP	C	TCGA-24-1614-01A-01W-0552-10		40546070	208704551	1	14108											
TTC24	164118	hgsc.bcm.edu	37	1	156555516	156555516	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr1:156555516C>T	ENST00000368237.3	+	8	1468	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Missense_Mutation_p.P490S|TTC24_ENST00000478081.1_3'UTR			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	490										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGTTTCCTTCCAGGCACAGT	0.502																																																0			1											121	118	119					1																	156555516		2068	4219	6287	154822140	SO:0001583	missense	164118				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1468C>T	1.37:g.156555516C>T	ENSP00000357220:p.Pro490Ser		154822140	Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179847	0.57800	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	T;T	0.23552	1.9;1.9	3.29	3.29	0.37713	.	1.123640	0.07021	N	0.826838	T	0.05410	0.0143	N	0.24115	0.695	0.09310	N	1	P	0.37781	0.608	B	0.32465	0.146	T	0.04551	-1.0943	10	0.08599	T	0.76	.	10.3462	0.43907	0.0:1.0:0.0:0.0	.	490	A2A3L6	TTC24_HUMAN	S	490	ENSP00000357219:P490S;ENSP00000357220:P490S	ENSP00000357219:P490S	P	+	1	0	TTC24	154822140	0.001000	0.12720	0.027000	0.17364	0.833000	0.47200	1.163000	0.31798	2.173000	0.68751	0.462000	0.41574	CCA		0.502	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		T	156555516	C	T	156555516	3	4	256	1	0	0	0	0	1	0	0	0	16692	855	30	2	1498	2	TTC24	1	156555516	Missense_Mutation	SNP	C	TCGA-24-1614-01A-01W-0552-10	116009446	156555516	92695105	2	14109											
CACNA1S	779	hgsc.bcm.edu	37	1	201052430	201052430	+	Frame_Shift_Del	DEL	T	T	-			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr1:201052430delT	ENST00000362061.3	-	10	1479	c.1253delA	c.(1252-1254)aacfs	p.N418fs	CACNA1S_ENST00000367338.3_Frame_Shift_Del_p.N418fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	418					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.N418fs*12(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAAGATGCGGTTCCACTGCCT	0.542																																																1	Deletion - Frameshift(1)	ovary(1)	1											192	158	170					1																	201052430		2203	4300	6503	199319053	SO:0001589	frameshift_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1253delA	1.37:g.201052430delT	ENSP00000355192:p.Asn418fs		199319053	A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Del	DEL	ENST00000362061.3	37	CCDS1407.1																																																																																				0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		-	201052430	T	-	201052430	7	5	256	1	0	1	0	1	0	0	0	0	2547	1725	60	0	4508	0	CACNA1S	1	201052430	Frame_Shift_Del	DEL	T	TCGA-24-1614-01A-01W-0552-10	44496914	201052430	48198191	3	14110											
C4BPA	722	hgsc.bcm.edu	37	1	207297627	207297627	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr1:207297627T>C	ENST00000367070.3	+	6	816	c.622T>C	c.(622-624)Tca>Cca	p.S208P		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	208	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.S208P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CCCCCGCTTCTCACTCTTGGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											84	87	86					1																	207297627		2203	4300	6503	205364250	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.622T>C	1.37:g.207297627T>C	ENSP00000356037:p.Ser208Pro		205364250	Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939052	0.34189	.	.	ENSG00000123838	ENST00000367070	T	0.65178	-0.14	5.71	1.83	0.25207	Complement control module (2);Sushi/SCR/CCP (3);	0.714836	0.12661	N	0.449642	T	0.78407	0.4278	M	0.92880	3.355	0.20703	N	0.999866	P	0.47962	0.903	P	0.62491	0.903	T	0.64373	-0.6423	10	0.33141	T	0.24	.	5.5779	0.17233	0.3117:0.0:0.1521:0.5362	.	208	P04003	C4BPA_HUMAN	P	208	ENSP00000356037:S208P	ENSP00000356037:S208P	S	+	1	0	C4BPA	205364250	0.319000	0.24607	0.019000	0.16419	0.018000	0.09664	0.713000	0.25794	0.102000	0.17638	0.528000	0.53228	TCA		0.488	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			C	207297627	T	C	207297627	3	2	256	1	0	0	0	0	1	0	0	0	2249	1551	54	4	640	4	C4BPA	1	207297627	Missense_Mutation	SNP	T	TCGA-24-1614-01A-01W-0552-10	6245197	207297627	41952994	4	14111											
EFEMP1	2202	hgsc.bcm.edu	37	2	56098226	56098226	+	Missense_Mutation	SNP	G	G	A	rs121434491		TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr2:56098226G>A	ENST00000394555.2	-	9	1468	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	EFEMP1_ENST00000424836.2_Missense_Mutation_p.R207W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R345W|EFEMP1_ENST00000394554.1_Missense_Mutation_p.R345W	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	345	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.		R -> W (in DHRD; misfolded, accumulates in cells due to inefficient secretion; induces the formation of deposits between Bruch's membrane and the retinal pigment epithelium where it accumulates). {ECO:0000269|PubMed:10369267, ECO:0000269|PubMed:11384588}.		epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.R345W(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCATCCTCCCGGCATTCATTT	0.368																																					GBM(92;934 1319 7714 28760 40110)											1	Substitution - Missense(1)	ovary(1)	2	GRCh37	CM990504	EFEMP1	M	rs121434491						82	88	86					2																	56098226		2203	4300	6503	55951730	SO:0001583	missense	2202			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1033C>T	2.37:g.56098226G>A	ENSP00000378058:p.Arg345Trp		55951730	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952590	0.53293	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.93859	-3.3;-3.3;-1.57;-3.3	5.5	5.5	0.81552	EGF-like calcium-binding, conserved site (1);	0.000000	0.56097	D	0.000021	D	0.95529	0.8547	M	0.67397	2.05	0.43271	A	0.995229	D;D	0.89917	1.0;0.987	D;B	0.74348	0.983;0.329	D	0.96705	0.9521	9	0.72032	D	0.01	.	11.2141	0.48817	0.0:0.1274:0.7244:0.1481	.	207;345	B4DW75;Q12805	.;FBLN3_HUMAN	W	345;345;201;207;345	ENSP00000378058:R345W;ENSP00000378057:R345W;ENSP00000399145:R207W;ENSP00000347596:R345W	ENSP00000347596:R345W	R	-	1	2	EFEMP1	55951730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.926000	0.40084	2.744000	0.94065	0.655000	0.94253	CGG		0.368	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			A	56098226	G	A	56098226	3	1	256	1	0	0	0	0	1	0	0	0	4941	1115	39	1	460	1	EFEMP1	2	56098226	Missense_Mutation	SNP	G	TCGA-24-1614-01A-01W-0552-10		56098226	187101147	5	14112											
KCNIP3	30818	hgsc.bcm.edu	37	2	96040047	96040047	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr2:96040047delG	ENST00000295225.5	+	3	320	c.185delG	c.(184-186)agcfs	p.S63fs	KCNIP3_ENST00000468529.1_Frame_Shift_Del_p.S37fs|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Frame_Shift_Del_p.S63fs	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	63					apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)	p.S62fs*130(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		ACTCCAGATAGCAGCGACAGT	0.607																																																1	Deletion - Frameshift(1)	ovary(1)	2											84	79	81					2																	96040047		2203	4300	6503	95403774	SO:0001589	frameshift_variant	30818			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.185delG	2.37:g.96040047delG	ENSP00000295225:p.Ser63fs		95403774	H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Frame_Shift_Del	DEL	ENST00000295225.5	37	CCDS2013.1																																																																																				0.607	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		-	96040047	G	-	96040047	7	5	256	1	0	1	0	1	0	0	0	0	8041	971	34	0	302	0	KCNIP3	2	96040047	Frame_Shift_Del	DEL	G	TCGA-24-1614-01A-01W-0552-10	39941821	96040047	147159326	6	14113			1	9		2	2	65	N	G	7.649088e-05
KCNIP3	30818	hgsc.bcm.edu	37	2	96040111	96040111	+	Silent	SNP	G	G	A			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr2:96040111G>A	ENST00000295225.5	+	3	384	c.249G>A	c.(247-249)caG>caA	p.Q83Q	KCNIP3_ENST00000468529.1_Silent_p.Q57Q|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Silent_p.Q83Q	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	83	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)	p.Q83Q(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		ACCAGCTGCAGGCCCAGACCA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	2											77	75	76					2																	96040111		2203	4300	6503	95403838	SO:0001819	synonymous_variant	30818			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.249G>A	2.37:g.96040111G>A			95403838	H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	37	CCDS2013.1																																																																																				0.602	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		A	96040111	G	A	96040111	2	1	256	1	0	0	0	0	0	0	0	1	8041	991	35	2		2	KCNIP3	2	96040111	Silent	SNP	G	TCGA-24-1614-01A-01W-0552-10	64	96040111	147159262	7	14114			1	9		2	2	65	N	G	7.649088e-05
TTN	7273	hgsc.bcm.edu	37	2	179480381	179480381	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr2:179480381C>T	ENST00000591111.1	-	208	43748	c.43524G>A	c.(43522-43524)atG>atA	p.M14508I	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M13581I|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M16149I|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.M7276I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M7209I|TTN_ENST00000460472.2_Missense_Mutation_p.M7084I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14508	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.M13581I(1)|p.M7084I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGTTGACATATTTACAG	0.393																																																2	Substitution - Missense(2)	ovary(2)	2											223	213	217					2																	179480381		1912	4125	6037	179188626	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43524G>A	2.37:g.179480381C>T	ENSP00000465570:p.Met14508Ile		179188626	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.21	2.170073	0.38315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.76	5.76	0.90799	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30198	0.0757	N	0.03029	-0.43	0.46061	D	0.998849	B;B;B;B	0.15473	0.013;0.013;0.013;0.013	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.18745	-1.0327	9	0.87932	D	0	.	19.9601	0.97247	0.0:1.0:0.0:0.0	.	7084;7209;7276;14508	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	13581;7084;7276;7209;7084	ENSP00000343764:M13581I;ENSP00000434586:M7084I;ENSP00000340554:M7276I;ENSP00000352154:M7209I	ENSP00000340554:M7276I	M	-	3	0	TTN	179188626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.912000	0.56386	2.720000	0.93068	0.655000	0.94253	ATG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179480381	C	T	179480381	3	4	256	1	0	0	0	0	1	0	0	0	16735	478	17	2	59666	2	TTN	2	179480381	Missense_Mutation	SNP	C	TCGA-24-1614-01A-01W-0552-10	83440270	179480381	63718992	8	14115											
EPHA3	2042	hgsc.bcm.edu	37	3	89259417	89259417	+	Silent	SNP	T	T	G			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr3:89259417T>G	ENST00000336596.2	+	3	786	c.561T>G	c.(559-561)ggT>ggG	p.G187G	EPHA3_ENST00000452448.2_Silent_p.G187G|EPHA3_ENST00000494014.1_Silent_p.G187G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	187	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.G187G(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAGATGTTGGTGCTTGTGTTG	0.438										TSP Lung(6;0.00050)																																						1	Substitution - coding silent(1)	ovary(1)	3											165	141	149					3																	89259417		2203	4300	6503	89342107	SO:0001819	synonymous_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.561T>G	3.37:g.89259417T>G			89342107	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																				0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		G	89259417	T	G	89259417	2	3	256	1	0	0	0	0	0	0	0	1	5168	1683	59	5		5	EPHA3	3	89259417	Silent	SNP	T	TCGA-24-1614-01A-01W-0552-10		89259417	108763013	9	14116											
IL7R	3575	hgsc.bcm.edu	37	5	35876310	35876310	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr5:35876310A>T	ENST00000303115.3	+	8	1231	c.1102A>T	c.(1102-1104)Aca>Tca	p.T368S	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	368					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.T368S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TTCATCCCTCACATGCCTGGC	0.537			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	1	Substitution - Missense(1)	ovary(1)	5											94	88	90					5																	35876310		2203	4300	6503	35912067	SO:0001583	missense	3575			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1102A>T	5.37:g.35876310A>T	ENSP00000306157:p.Thr368Ser		35912067	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	A	3.307	-0.141671	0.06669	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.31510	2.01;1.49	5.6	-1.06	0.10002	.	1.782080	0.02099	N	0.053785	T	0.16128	0.0388	N	0.14661	0.345	0.09310	N	0.999999	B	0.14438	0.01	B	0.11329	0.006	T	0.13764	-1.0497	10	0.09084	T	0.74	-11.9971	5.1402	0.14955	0.4546:0.1622:0.3833:0.0	.	368	P16871	IL7RA_HUMAN	S	368;134	ENSP00000306157:T368S;ENSP00000420923:T134S	ENSP00000306157:T368S	T	+	1	0	IL7R	35912067	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.785000	0.04628	0.034000	0.15491	-0.408000	0.06270	ACA		0.537	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			T	35876310	A	T	35876310	3	4	256	1	0	0	0	0	1	0	0	0	7705	159	6	5	1132	5	IL7R	5	35876310	Missense_Mutation	SNP	A	TCGA-24-1614-01A-01W-0552-10		35876310	145038950	10	14117											
NR2F1	7025	hgsc.bcm.edu	37	5	92921109	92921109	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr5:92921109A>G	ENST00000327111.3	+	1	2067	c.380A>G	c.(379-381)aAc>aGc	p.N127S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	127					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.N127S(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCCAACAGGAACTGTCCCATC	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											82	67	72					5																	92921109		2203	4300	6503	92946865	SO:0001583	missense	7025			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.380A>G	5.37:g.92921109A>G	ENSP00000325819:p.Asn127Ser		92946865		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.202293	0.58234	.	.	ENSG00000175745	ENST00000327111	D	0.96427	-4.01	3.3	3.3	0.37823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.045099	0.85682	D	0.000000	D	0.92512	0.7622	L	0.41124	1.26	0.80722	D	1	B	0.25667	0.131	B	0.22152	0.038	D	0.89881	0.4030	10	0.32370	T	0.25	.	11.7486	0.51835	1.0:0.0:0.0:0.0	.	127	P10589	COT1_HUMAN	S	127	ENSP00000325819:N127S	ENSP00000325819:N127S	N	+	2	0	NR2F1	92946865	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.819000	0.91997	1.508000	0.48769	0.254000	0.18369	AAC		0.542	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		G	92921109	A	G	92921109	3	3	256	1	0	0	0	0	1	0	0	0	10627	43	2	4	382	4	NR2F1	5	92921109	Missense_Mutation	SNP	A	TCGA-24-1614-01A-01W-0552-10	57044799	92921109	87994151	11	14118											
H2AFY	9555	hgsc.bcm.edu	37	5	134679093	134679093	+	Silent	SNP	G	G	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr5:134679093G>T	ENST00000511689.1	-	8	1403	c.810C>A	c.(808-810)gcC>gcA	p.A270A	H2AFY_ENST00000510038.1_Silent_p.A270A|H2AFY_ENST00000512507.1_5'UTR|CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.L125F|H2AFY_ENST00000312469.4_Silent_p.A267A|H2AFY_ENST00000304332.4_Silent_p.A269A|H2AFY_ENST00000423969.2_Silent_p.A98A	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	270	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)	p.A270A(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACAAACTTGGCAGGCAGGC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	5											88	88	88					5																	134679093		2203	4300	6503	134706992	SO:0001819	synonymous_variant	9555			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.810C>A	5.37:g.134679093G>T			134706992	O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825199	0.50739	.	.	ENSG00000224186	ENST00000432382	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	T	0.66733	0.2819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69606	-0.5100	5	0.87932	D	0	.	9.5829	0.39499	0.0741:0.0:0.7735:0.1523	.	.	.	.	F	125	.	ENSP00000402151:L125F	L	+	3	2	CTC-203F4.1	134706992	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.706000	0.25690	2.714000	0.92807	0.561000	0.74099	TTG		0.502	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		T	134679093	G	T	134679093	2	4	256	1	0	0	0	0	0	0	0	1	6929	1335	47	3		3	H2AFY	5	134679093	Silent	SNP	G	TCGA-24-1614-01A-01W-0552-10	41757984	134679093	46236167	12	14119											
B3GAT2	135152	hgsc.bcm.edu	37	6	71603934	71603934	+	Silent	SNP	C	C	G			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr6:71603934C>G	ENST00000230053.6	-	2	1241	c.633G>C	c.(631-633)ctG>ctC	p.L211L		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	211					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.L211L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCCACCAACCAGGCCCACAG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	6											78	74	76					6																	71603934		2203	4300	6503	71660655	SO:0001819	synonymous_variant	135152			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"Beta-1,3-glucuronyltransferases"	922	protein-coding gene	gene with protein product	"glucuronosyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.633G>C	6.37:g.71603934C>G			71660655	Q5JS09|Q8TF38|Q96NK4	Silent	SNP	ENST00000230053.6	37	CCDS4974.1																																																																																				0.537	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		G	71603934	C	G	71603934	2	3	256	1	0	0	0	0	0	0	0	1	1254	581	21	3		3	B3GAT2	6	71603934	Silent	SNP	C	TCGA-24-1614-01A-01W-0552-10		71603934	99511133	13	14120											
RNF146	81847	hgsc.bcm.edu	37	6	127608473	127608473	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr6:127608473G>A	ENST00000368314.1	+	3	1139	c.715G>A	c.(715-717)Gca>Aca	p.A239T	RNF146_ENST00000309649.3_Missense_Mutation_p.A238T|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000608991.1_Missense_Mutation_p.A238T|RNF146_ENST00000610153.1_Missense_Mutation_p.A239T	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	239					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A238T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		ATCCCCTGATGCAAGCACTTC	0.478																																																1	Substitution - Missense(1)	ovary(1)	6											109	106	107					6																	127608473		2203	4300	6503	127650166	SO:0001583	missense	81847			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.715G>A	6.37:g.127608473G>A	ENSP00000357297:p.Ala239Thr		127650166	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325012	0.41197	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.22945	1.93;1.93;1.93	5.95	4.08	0.47627	.	0.403964	0.25885	N	0.027661	T	0.10165	0.0249	L	0.44542	1.39	0.37042	D	0.897186	B	0.31318	0.319	B	0.26614	0.071	T	0.06110	-1.0845	10	0.38643	T	0.18	-4.9218	11.5602	0.50772	0.067:0.125:0.808:0.0	.	239	Q9NTX7	RN146_HUMAN	T	239;238;238	ENSP00000357297:A239T;ENSP00000349253:A238T;ENSP00000309365:A238T	ENSP00000309365:A238T	A	+	1	0	RNF146	127650166	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.077000	0.50089	1.528000	0.49103	0.655000	0.94253	GCA		0.478	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		A	127608473	G	A	127608473	3	1	256	1	0	0	0	0	1	0	0	0	13451	1319	46	2	714	2	RNF146	6	127608473	Missense_Mutation	SNP	G	TCGA-24-1614-01A-01W-0552-10	56004539	127608473	43506594	14	14121											
PION	54103	hgsc.bcm.edu	37	7	77004374	77004374	+	Splice_Site	SNP	C	C	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr7:77004374C>T	ENST00000257626.7	-	11	864		c.e11+1			NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein						positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.?(1)									GAATAACTTACTTAAATCCTG	0.289																																																1	Unknown(1)	ovary(1)	7											71	69	70					7																	77004374		2201	4299	6500	76842310	SO:0001630	splice_region_variant	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.785+1G>A	7.37:g.77004374C>T			76842310	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Splice_Site	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127239	0.56721	.	.	ENSG00000186088	ENST00000257626	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3927	0.74758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PION	76842310	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	4.488000	0.60300	2.709000	0.92574	0.563000	0.77884	.		0.289	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439	Intron	T	77004374	C	T	77004374	5	4	256	1	0	0	0	0	0	0	1	0	11934	579	20	2	1862	2	PION	7	77004374	Splice_Site	SNP	C	TCGA-24-1614-01A-01W-0552-10		77004374	82134289	15	14122											
PXDNL	137902	hgsc.bcm.edu	37	8	52232509	52232509	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr8:52232509G>T	ENST00000356297.4	-	23	4434	c.4334C>A	c.(4333-4335)aCc>aAc	p.T1445N	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1445	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T1445N(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGACAGCAGGTTCCTTTCAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	8											52	53	53					8																	52232509		1901	4109	6010	52395062	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4334C>A	8.37:g.52232509G>T	ENSP00000348645:p.Thr1445Asn		52395062	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.672|7.672	0.687109|0.687109	0.14973|0.14973	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.71579	.|-0.58	4.51|4.51	-9.03|-9.03	0.00737|0.00737	.|von Willebrand factor, type C (4);	.|.	.|.	.|.	.|.	T|T	0.37517|0.37517	0.1006|0.1006	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.12837	.|0.008	T|T	0.18335|0.18335	-1.0340|-1.0340	5|9	.|0.31617	.|T	.|0.26	.|.	0.735|0.735	0.00963|0.00963	0.2582:0.2042:0.1258:0.4118|0.2582:0.2042:0.1258:0.4118	.|.	.|1445	.|A1KZ92	.|PXDNL_HUMAN	T|N	519|1445	.|ENSP00000348645:T1445N	.|ENSP00000348645:T1445N	P|T	-|-	1|2	0|0	PXDNL|PXDNL	52395062|52395062	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.363000|-1.363000	0.02592|0.02592	-1.763000|-1.763000	0.01307|0.01307	-2.045000|-2.045000	0.00415|0.00415	CCT|ACC		0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		T	52232509	G	T	52232509	3	4	256	1	0	0	0	0	1	0	0	0	12851	1261	44	3	61	3	PXDNL	8	52232509	Missense_Mutation	SNP	G	TCGA-24-1614-01A-01W-0552-10		52232509	94131513	16	14123											
ZFHX4	79776	hgsc.bcm.edu	37	8	77766447	77766447	+	Silent	SNP	A	A	G			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr8:77766447A>G	ENST00000521891.2	+	10	7738	c.7290A>G	c.(7288-7290)ccA>ccG	p.P2430P	ZFHX4_ENST00000455469.2_Silent_p.P2385P|ZFHX4_ENST00000518282.1_Silent_p.P2404P|ZFHX4_ENST00000050961.6_Silent_p.P2385P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P2414P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCCCTGCCATTAGCATCGA	0.557										HNSCC(33;0.089)																																						1	Substitution - coding silent(1)	ovary(1)	8											51	85	74					8																	77766447		2050	4163	6213	77929002	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7290A>G	8.37:g.77766447A>G			77929002	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.557	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77766447	A	G	77766447	2	3	256	1	0	0	0	0	0	0	0	1	17635	204	8	4		4	ZFHX4	8	77766447	Silent	SNP	A	TCGA-24-1614-01A-01W-0552-10	25533938	77766447	68597575	17	14124											
PHF20L1	51105	hgsc.bcm.edu	37	8	133807002	133807002	+	Silent	SNP	T	T	C			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr8:133807002T>C	ENST00000395386.2	+	4	578	c.279T>C	c.(277-279)gtT>gtC	p.V93V	PHF20L1_ENST00000395379.1_Silent_p.V93V|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Silent_p.V93V|PHF20L1_ENST00000395376.1_Silent_p.V93V|PHF20L1_ENST00000337920.4_Silent_p.V93V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	93	Tudor 2.						zinc ion binding (GO:0008270)	p.V93V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAGAAGAAGTTCTGGCTCGTT	0.313																																																2	Substitution - coding silent(2)	ovary(2)	8											53	56	55					8																	133807002		2203	4300	6503	133876184	SO:0001819	synonymous_variant	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.279T>C	8.37:g.133807002T>C			133876184	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	CCDS6367.2																																																																																				0.313	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		C	133807002	T	C	133807002	2	2	256	1	0	0	0	0	0	0	0	1	11832	1770	62	4		4	PHF20L1	8	133807002	Silent	SNP	T	TCGA-24-1614-01A-01W-0552-10	56040555	133807002	12557020	18	14125											
DBC1	1620	hgsc.bcm.edu	37	9	121930306	121930306	+	Missense_Mutation	SNP	C	C	T	rs375138030		TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr9:121930306C>T	ENST00000265922.3	-	8	1803	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	448					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.G448S(1)									TTGCAGGAGCCGCAGAGGGAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	9						C	SER/GLY	0,4406		0,0,2203	50	49	50		1342	5.6	1	9		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	DBC1	NM_014618.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	448/762	121930306	1,13005	2203	4300	6503	120970127	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1342G>A	9.37:g.121930306C>T	ENSP00000265922:p.Gly448Ser		120970127	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962299	0.74016	0.0	1.16E-4	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.58652	0.32	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.39245	1.2	0.80722	D	1	P	0.48162	0.906	B	0.38194	0.267	T	0.56685	-0.7938	10	0.52906	T	0.07	-26.0926	19.5083	0.95130	0.0:1.0:0.0:0.0	.	448	O60477	DBC1_HUMAN	S	448	ENSP00000265922:G448S	ENSP00000265922:G448S	G	-	1	0	DBC1	120970127	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.019000	0.70818	2.600000	0.87896	0.655000	0.94253	GGC		0.622	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		T	121930306	C	T	121930306	3	4	256	1	0	0	0	0	1	0	0	0	4247	652	23	1	947	1	DBC1	9	121930306	Missense_Mutation	SNP	C	TCGA-24-1614-01A-01W-0552-10		121930306	19283125	19	14126											
ARMC4	55130	hgsc.bcm.edu	37	10	28283956	28283956	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr10:28283956T>G	ENST00000305242.5	-	2	208	c.116A>C	c.(115-117)gAg>gCg	p.E39A		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	39					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.E39A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GATAAAACTCTCCACAAACAC	0.408																																																1	Substitution - Missense(1)	ovary(1)	10											79	75	77					10																	28283956		2203	4300	6503	28323962	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.116A>C	10.37:g.28283956T>G	ENSP00000306410:p.Glu39Ala		28323962	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619610	0.66787	.	.	ENSG00000169126	ENST00000305242	T	0.38887	1.11	4.98	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.78637	2.42	0.80722	D	1	D	0.63880	0.993	P	0.55923	0.787	T	0.59815	-0.7383	10	0.72032	D	0.01	-4.5595	10.5355	0.45002	0.1563:0.0:0.0:0.8437	.	39	Q5T2S8	ARMC4_HUMAN	A	39	ENSP00000306410:E39A	ENSP00000306410:E39A	E	-	2	0	ARMC4	28323962	0.991000	0.36638	0.772000	0.31596	0.716000	0.41182	2.264000	0.43302	0.691000	0.31592	0.477000	0.44152	GAG		0.408	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		G	28283956	T	G	28283956	3	3	256	1	0	0	0	0	1	0	0	0	953	1551	54	5	3094	5	ARMC4	10	28283956	Missense_Mutation	SNP	T	TCGA-24-1614-01A-01W-0552-10		28283956	107250791	20	14127											
HKDC1	80201	hgsc.bcm.edu	37	10	70992825	70992825	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr10:70992825A>C	ENST00000354624.5	+	4	564	c.431A>C	c.(430-432)aAg>aCg	p.K144T	HKDC1_ENST00000395086.2_Missense_Mutation_p.K144T|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	144	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.K144T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGATTTAAAGCATAAGAAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											103	99	101					10																	70992825		2203	4300	6503	70662831	SO:0001583	missense	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.431A>C	10.37:g.70992825A>C	ENSP00000346643:p.Lys144Thr		70662831	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880397	0.33255	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98381	-4.9;-4.9	4.3	-5.99	0.02213	Hexokinase, N-terminal (1);	0.686578	0.14881	N	0.292942	D	0.95648	0.8585	M	0.67625	2.065	0.09310	N	1	B	0.09022	0.002	B	0.20577	0.03	D	0.88563	0.3124	10	0.49607	T	0.09	-3.8623	8.2939	0.31973	0.3409:0.4435:0.0:0.2156	.	144	Q2TB90	HKDC1_HUMAN	T	144	ENSP00000346643:K144T;ENSP00000378521:K144T	ENSP00000346643:K144T	K	+	2	0	HKDC1	70662831	0.735000	0.28153	0.010000	0.14722	0.888000	0.51559	1.078000	0.30754	-0.763000	0.04658	0.459000	0.35465	AAG		0.458	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		C	70992825	A	C	70992825	3	2	256	1	0	0	0	0	1	0	0	0	7193	72	3	5	445	5	HKDC1	10	70992825	Missense_Mutation	SNP	A	TCGA-24-1614-01A-01W-0552-10	42708869	70992825	64541922	21	14128											
OR5M1	390168	hgsc.bcm.edu	37	11	56380663	56380663	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr11:56380663C>T	ENST00000526538.1	-	1	315	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A106T(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCACCAGGGCGATGAAGAGA	0.448																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	11											175	160	165					11																	56380663		1987	4163	6150	56137239	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.316G>A	11.37:g.56380663C>T	ENSP00000435416:p.Ala106Thr		56137239	Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	6.124	0.391105	0.11581	.	.	ENSG00000255012	ENST00000526538	T	0.02140	4.43	3.71	0.674	0.17946	GPCR, rhodopsin-like superfamily (1);	0.403660	0.18179	N	0.149211	T	0.01592	0.0051	N	0.20530	0.585	0.09310	N	1	B	0.19073	0.033	B	0.15052	0.012	T	0.48068	-0.9067	10	0.25751	T	0.34	-20.489	7.8354	0.29368	0.0:0.6151:0.0:0.3849	.	106	Q8NGP8	OR5M1_HUMAN	T	106	ENSP00000435416:A106T	ENSP00000435416:A106T	A	-	1	0	OR5M1	56137239	0.000000	0.05858	0.994000	0.49952	0.854000	0.48673	-2.965000	0.00670	0.293000	0.22520	0.280000	0.19369	GCC		0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		T	56380663	C	T	56380663	3	4	256	1	0	0	0	0	1	0	0	0	11172	768	27	1	635	1	OR5M1	11	56380663	Missense_Mutation	SNP	C	TCGA-24-1614-01A-01W-0552-10		56380663	78625853	22	14129											
C11orf87	399947	hgsc.bcm.edu	37	11	109294535	109294535	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr11:109294535C>A	ENST00000327419.6	+	2	579	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	59						integral component of membrane (GO:0016021)		p.S59Y(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CAGTCCTTCTCCTCCACGCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	11											165	133	144					11																	109294535		2201	4298	6499	108799745	SO:0001583	missense	399947			AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.176C>A	11.37:g.109294535C>A	ENSP00000331581:p.Ser59Tyr		108799745	B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808485	0.70797	.	.	ENSG00000185742	ENST00000327419	.	.	.	5.0	5.0	0.66597	.	0.000000	0.53938	U	0.000053	T	0.66436	0.2789	L	0.29908	0.895	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.70278	-0.4916	9	0.87932	D	0	.	16.1559	0.81666	0.0:1.0:0.0:0.0	.	59	Q6NUJ2	CK087_HUMAN	Y	59	.	ENSP00000331581:S59Y	S	+	2	0	C11orf87	108799745	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.868000	0.75516	2.487000	0.83934	0.561000	0.74099	TCC		0.622	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		A	109294535	C	A	109294535	3	1	256	1	0	0	0	0	1	0	0	0	1669	855	30	3	178	3	C11orf87	11	109294535	Missense_Mutation	SNP	C	TCGA-24-1614-01A-01W-0552-10	52913872	109294535	25711981	23	14130											
MLL	4297	hgsc.bcm.edu	37	11	118377264	118377264	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr11:118377264G>C	ENST00000389506.5	+	27	10648	c.10648G>C	c.(10648-10650)Ggg>Cgg	p.G3550R	KMT2A_ENST00000534358.1_Missense_Mutation_p.G3553R|KMT2A_ENST00000354520.4_Missense_Mutation_p.G3512R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3550					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.G3550R(1)									TCTAGACAAAGGGAATGGCAA	0.517																																																1	Substitution - Missense(1)	ovary(1)	11											82	77	79					11																	118377264		2200	4295	6495	117882474	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10648G>C	11.37:g.118377264G>C	ENSP00000374157:p.Gly3550Arg		117882474	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310372	0.60414	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82619	-1.63;-1.63;-1.6	5.85	5.85	0.93711	.	0.171106	0.53938	D	0.000057	T	0.81898	0.4920	L	0.36672	1.1	0.42774	D	0.993844	D;D	0.60575	0.988;0.988	P;P	0.54664	0.758;0.758	T	0.77259	-0.2654	10	0.16420	T	0.52	.	13.3747	0.60732	0.0717:0.0:0.9283:0.0	.	3553;3550	E9PQG7;Q03164	.;MLL1_HUMAN	R	3553;3550;3512;2460	ENSP00000436786:G3553R;ENSP00000374157:G3550R;ENSP00000346516:G3512R	ENSP00000346516:G3512R	G	+	1	0	MLL	117882474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.658000	0.61497	2.773000	0.95371	0.585000	0.79938	GGG		0.517	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		C	118377264	G	C	118377264	3	2	256	1	0	0	0	0	1	0	0	0	9620	1000	35	3	10754	3	MLL	11	118377264	Missense_Mutation	SNP	G	TCGA-24-1614-01A-01W-0552-10	9082729	118377264	16629252	24	14131											
GDF3	9573	hgsc.bcm.edu	37	12	7848219	7848219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr12:7848219delC	ENST00000329913.3	-	1	153	c.106delG	c.(106-108)gatfs	p.D36fs		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	36					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.D36fs*16(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCGCCTTATCTAAGCCCAGA	0.483																																																1	Deletion - Frameshift(1)	ovary(1)	12											47	48	47					12																	7848219		2203	4300	6503	7739486	SO:0001589	frameshift_variant	9573			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.106delG	12.37:g.7848219delC	ENSP00000331745:p.Asp36fs		7739486	Q8NEJ4	Frame_Shift_Del	DEL	ENST00000329913.3	37	CCDS8581.1																																																																																				0.483	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			-	7848219	C	-	7848219	7	5	256	1	0	1	0	1	0	0	0	0	6315	913	32	0	996	0	GDF3	12	7848219	Frame_Shift_Del	DEL	C	TCGA-24-1614-01A-01W-0552-10		7848219	126003676	25	14132											
ERCC5	2073	hgsc.bcm.edu	37	13	103524696	103524696	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr13:103524696G>T	ENST00000355739.4	+	13	4250	c.2827G>T	c.(2827-2829)Gac>Tac	p.D943Y	ERCC5_ENST00000375954.1_Missense_Mutation_p.D176Y|BIVM-ERCC5_ENST00000602836.1_Nonstop_Mutation_p.*1368L	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	943					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.D943Y(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGTGGTGGATGACTCGAAGGG	0.448			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	1	Substitution - Missense(1)	ovary(1)	13											83	79	80					13																	103524696		2203	4300	6503	102322697	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2827G>T	13.37:g.103524696G>T	ENSP00000347978:p.Asp943Tyr		102322697	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133068	0.56828	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.67345	-0.26;-0.26	5.54	5.54	0.83059	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.281155	0.40222	N	0.001143	T	0.77011	0.4068	L	0.54323	1.7	0.80722	D	1	D;B	0.62365	0.991;0.206	P;B	0.59056	0.851;0.118	T	0.77319	-0.2632	10	0.54805	T	0.06	-13.3192	19.4954	0.95070	0.0:0.0:1.0:0.0	.	943;1368	P28715;Q59FZ7	ERCC5_HUMAN;.	Y	1368;943;775;176	ENSP00000347978:D943Y;ENSP00000365121:D176Y	ENSP00000347978:D943Y	D	+	1	0	ERCC5	102322697	1.000000	0.71417	0.995000	0.50966	0.863000	0.49368	6.145000	0.71769	2.607000	0.88179	0.655000	0.94253	GAC		0.448	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			T	103524696	G	T	103524696	3	4	256	1	0	0	0	0	1	0	0	0	5216	1290	45	3	2877	3	ERCC5	13	103524696	Missense_Mutation	SNP	G	TCGA-24-1614-01A-01W-0552-10		103524696	11645182	26	14133											
TP53	7157	hgsc.bcm.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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"	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	17											50	52	51					17																	7578461		2202	4300	6502	7519186	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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe		7519186	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578461	C	A	7578461	3	1	256	1	0	0	0	0	1	0	0	0	16381	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-24-1614-01A-01W-0552-10		7578461	73616749	27	14134											
SPAG5	10615	hgsc.bcm.edu	37	17	26918782	26918782	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr17:26918782G>T	ENST00000321765.5	-	4	1703	c.1371C>A	c.(1369-1371)agC>agA	p.S457R		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	457					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.S457R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGCCAGCTGGCTCTTCCAGT	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											85	81	82					17																	26918782		2203	4300	6503	23942909	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1371C>A	17.37:g.26918782G>T	ENSP00000323300:p.Ser457Arg		23942909	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194212	0.58017	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	-3.5	0.04710	.	0.619232	0.16399	N	0.216099	T	0.24314	0.0589	L	0.32530	0.975	0.09310	N	1	P	0.46512	0.879	P	0.45829	0.494	T	0.17471	-1.0368	9	0.44086	T	0.13	1.0E-4	5.3806	0.16189	0.4252:0.2548:0.32:0.0	.	457	Q96R06	SPAG5_HUMAN	R	457	.	ENSP00000323300:S457R	S	-	3	2	SPAG5	23942909	0.005000	0.15991	0.047000	0.18901	0.991000	0.79684	-0.047000	0.11963	-0.195000	0.10382	0.655000	0.94253	AGC		0.542	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		T	26918782	G	T	26918782	3	4	256	1	0	0	0	0	1	0	0	0	14984	1194	42	3	2294	3	SPAG5	17	26918782	Missense_Mutation	SNP	G	TCGA-24-1614-01A-01W-0552-10	19340321	26918782	54276428	28	14135											
TEX2	55852	hgsc.bcm.edu	37	17	62265564	62265564	+	Silent	SNP	C	C	G			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr17:62265564C>G	ENST00000583097.1	-	5	2560	c.2388G>C	c.(2386-2388)ctG>ctC	p.L796L	TEX2_ENST00000258991.3_Silent_p.L803L|TEX2_ENST00000584379.1_Silent_p.L796L			Q8IWB9	TEX2_HUMAN	testis expressed 2	796					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.L803L(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCGCACTCTGCAGGGGGCTCC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	17											42	47	45					17																	62265564		2202	4299	6501	59619296	SO:0001819	synonymous_variant	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2388G>C	17.37:g.62265564C>G			59619296	Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																					0.587	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		G	62265564	C	G	62265564	2	3	256	1	0	0	0	0	0	0	0	1	15781	697	25	3		3	TEX2	17	62265564	Silent	SNP	C	TCGA-24-1614-01A-01W-0552-10	35346782	62265564	18929646	29	14136											
TBCD	6904	hgsc.bcm.edu	37	17	80863815	80863815	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr17:80863815T>C	ENST00000355528.4	+	20	1938	c.1808T>C	c.(1807-1809)tTc>tCc	p.F603S	TBCD_ENST00000539345.2_Missense_Mutation_p.F603S|TBCD_ENST00000397466.2_Missense_Mutation_p.F217S	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	603					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.F603S(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTTGCAGTCTTCCCGAGGCTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											72	76	74					17																	80863815		2128	4229	6357	78457104	SO:0001583	missense	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1808T>C	17.37:g.80863815T>C	ENSP00000347719:p.Phe603Ser		78457104	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045328	0.55110	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.68331	-0.32;-0.32	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.601471	0.17313	N	0.178807	T	0.65801	0.2726	L	0.53249	1.67	0.22811	N	0.998701	P;P;B	0.43885	0.586;0.82;0.013	B;B;B	0.44224	0.191;0.444;0.026	T	0.60637	-0.7224	9	.	.	.	.	13.2697	0.60153	0.0:0.0:0.0:1.0	.	603;603;603	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	S	603;354;217;603	ENSP00000347719:F603S;ENSP00000380608:F217S	.	F	+	2	0	TBCD	78457104	1.000000	0.71417	0.014000	0.15608	0.013000	0.08279	5.570000	0.67398	2.019000	0.59389	0.533000	0.62120	TTC		0.602	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		C	80863815	T	C	80863815	3	2	256	1	0	0	0	0	1	0	0	0	15633	1783	62	4	1886	4	TBCD	17	80863815	Missense_Mutation	SNP	T	TCGA-24-1614-01A-01W-0552-10	18598251	80863815	331395	30	14137											
DCC	1630	hgsc.bcm.edu	37	18	50705485	50705485	+	Splice_Site	SNP	G	G	C	rs148634700	byFrequency	TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr18:50705485G>C	ENST00000442544.2	+	9	2188	c.1572G>C	c.(1570-1572)gaG>gaC	p.E524D	DCC_ENST00000412726.1_Splice_Site_p.E372D|DCC_ENST00000581580.1_Splice_Site_p.E179D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	524	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.E524D(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACAGCCTGAGTGTGAGTATG	0.453																																																1	Substitution - Missense(1)	ovary(1)	18											49	47	48					18																	50705485		2203	4300	6503	48959483	SO:0001630	splice_region_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1573+1G>C	18.37:g.50705485G>C			48959483		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666602	0.29604	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56103	0.58;0.48	5.62	-1.63	0.08345	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.066702	0.64402	D	0.000018	T	0.36853	0.0982	N	0.25201	0.72	0.41892	D	0.990373	B;B;B	0.19331	0.035;0.035;0.002	B;B;B	0.27715	0.082;0.082;0.021	T	0.18461	-1.0336	10	0.66056	D	0.02	.	12.0126	0.53297	0.5975:0.0:0.4025:0.0	.	372;372;524	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	D	524;457;372	ENSP00000389140:E524D;ENSP00000397322:E372D	ENSP00000304146:E457D	E	+	3	2	DCC	48959483	0.224000	0.23674	0.992000	0.48379	0.913000	0.54294	-0.141000	0.10327	-0.270000	0.09285	-0.302000	0.09304	GAG		0.453	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Missense_Mutation	C	50705485	G	C	50705485	5	2	256	1	0	0	0	0	0	0	1	0	4282	1043	36	3	1606	3	DCC	18	50705485	Splice_Site	SNP	G	TCGA-24-1614-01A-01W-0552-10		50705485	27371763	31	14138											
SLC1A6	6511	hgsc.bcm.edu	37	19	15079174	15079174	+	Silent	SNP	C	C	T			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr19:15079174C>T	ENST00000221742.3	-	3	496	c.489G>A	c.(487-489)ctG>ctA	p.L163L	SLC1A6_ENST00000598504.1_Silent_p.L163L|SLC1A6_ENST00000600144.1_Silent_p.L163L|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000544886.2_Silent_p.L163L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	163					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.L163L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCTCCCGGTGCAGCCCCTCCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19											76	56	63					19																	15079174		2203	4300	6503	14940174	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.489G>A	19.37:g.15079174C>T			14940174	Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1																																																																																				0.547	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		T	15079174	C	T	15079174	2	4	256	1	0	0	0	0	0	0	0	1	14439	697	25	2		2	SLC1A6	19	15079174	Silent	SNP	C	TCGA-24-1614-01A-01W-0552-10		15079174	44049809	32	14139											
SIN3B	23309	hgsc.bcm.edu	37	19	16973182	16973182	+	Missense_Mutation	SNP	G	G	T	rs200523165		TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chr19:16973182G>T	ENST00000248054.5	+	9	1099	c.1078G>T	c.(1078-1080)Gca>Tca	p.A360S	SIN3B_ENST00000595541.1_5'Flank|SIN3B_ENST00000379803.1_Missense_Mutation_p.A360S					SIN3 transcription regulator family member B									p.A360S(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAACTCTTTGCACAGTTCAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	19											69	73	71					19																	16973182		2203	4300	6503	16834182	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1078G>T	19.37:g.16973182G>T	ENSP00000248054:p.Ala360Ser		16834182		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	17.19	3.326736	0.60743	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.42513	0.97;0.98	4.63	3.59	0.41128	.	0.106801	0.64402	D	0.000005	T	0.18718	0.0449	N	0.04508	-0.205	0.38290	D	0.942689	B;B	0.31790	0.34;0.242	B;B	0.29862	0.108;0.105	T	0.09796	-1.0658	10	0.09084	T	0.74	-17.7932	12.5464	0.56201	0.0822:0.0:0.9178:0.0	.	360;360	O75182-2;O75182	.;SIN3B_HUMAN	S	360	ENSP00000369131:A360S;ENSP00000248054:A360S	ENSP00000248054:A360S	A	+	1	0	SIN3B	16834182	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	3.632000	0.54287	0.941000	0.37499	0.561000	0.74099	GCA		0.493	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		T	16973182	G	T	16973182	3	4	256	1	0	0	0	0	1	0	0	0	14329	1319	46	3	1112	3	SIN3B	19	16973182	Missense_Mutation	SNP	G	TCGA-24-1614-01A-01W-0552-10	1894008	16973182	42155801	33	14140											
HUWE1	10075	hgsc.bcm.edu	37	X	53602136	53602136	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chrX:53602136A>G	ENST00000342160.3	-	45	6533	c.6076T>C	c.(6076-6078)Tct>Cct	p.S2026P	HUWE1_ENST00000262854.6_Missense_Mutation_p.S2026P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2026					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S1889P(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGGTCCCAGATGCGGAAGTC	0.448																																																1	Substitution - Missense(1)	ovary(1)	X											52	45	47					X																	53602136		2203	4300	6503	53618861	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6076T>C	X.37:g.53602136A>G	ENSP00000340648:p.Ser2026Pro		53618861	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.18|10.18	1.279188|1.279188	0.23307|0.23307	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.43688	.|0.94;0.94	5.03|5.03	2.52|2.52	0.30459|0.30459	.|.	.|0.773882	.|0.11938	.|N	.|0.515064	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.24115|0.24115	0.695|0.695	0.39383|0.39383	D|D	0.96629|0.96629	.|D;B	.|0.53885	.|0.963;0.106	.|P;B	.|0.46685	.|0.524;0.068	T|T	0.07028|0.07028	-1.0794|-1.0794	5|10	.|0.27785	.|T	.|0.31	.|.	4.4731|4.4731	0.11722|0.11722	0.73:0.0:0.0964:0.1736|0.73:0.0:0.0964:0.1736	.|.	.|2026;2026	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	T|P	1059|2026	.|ENSP00000340648:S2026P;ENSP00000262854:S2026P	.|ENSP00000262854:S2026P	I|S	-|-	2|1	0|0	HUWE1|HUWE1	53618861|53618861	1.000000|1.000000	0.71417|0.71417	0.633000|0.633000	0.29310|0.29310	0.732000|0.732000	0.41865|0.41865	1.758000|1.758000	0.38410|0.38410	0.115000|0.115000	0.18071|0.18071	0.486000|0.486000	0.48141|0.48141	ATC|TCT		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		G	53602136	A	G	53602136	3	3	256	1	0	0	0	0	1	0	0	0	7461	333	12	4	7204	4	HUWE1	23	53602136	Missense_Mutation	SNP	A	TCGA-24-1614-01A-01W-0552-10		53602136	101668424	34	14141											
ARHGEF9	23229	hgsc.bcm.edu	37	X	62926239	62926239	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chrX:62926239C>A	ENST00000253401.6	-	3	1080	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.G92W|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.G41W|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.G73W	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	94					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G92W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AGTGGCCGCCCCAGACAGAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	X											103	73	83					X																	62926239		2203	4300	6503	62842964	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.280G>T	X.37:g.62926239C>A	ENSP00000253401:p.Gly94Trp		62842964	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345111	0.82022	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374872	T;T;T;T	0.73258	0.86;0.86;-0.73;0.86	5.73	4.85	0.62838	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	L	0.44542	1.39	0.80722	D	1	D;D;D	0.76494	0.992;0.998;0.999	D;P;D	0.66497	0.922;0.9;0.944	T	0.77587	-0.2532	10	0.51188	T	0.08	.	13.7508	0.62906	0.1547:0.8453:0.0:0.0	.	41;92;94	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	W	94;92;41;73	ENSP00000253401:G94W;ENSP00000364012:G92W;ENSP00000399994:G41W;ENSP00000364006:G73W	ENSP00000253401:G94W	G	-	1	0	ARHGEF9	62842964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.463000	0.66712	1.140000	0.42260	0.600000	0.82982	GGG		0.562	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			A	62926239	C	A	62926239	3	1	256	1	0	0	0	0	1	0	0	0	912	623	22	3	1302	3	ARHGEF9	23	62926239	Missense_Mutation	SNP	C	TCGA-24-1614-01A-01W-0552-10	9324103	62926239	92344321	35	14142											
RENBP	5973	hgsc.bcm.edu	37	X	153207037	153207037	+	Missense_Mutation	SNP	G	G	T	rs78377269	byFrequency	TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chrX:153207037G>T	ENST00000393700.3	-	8	919	c.839C>A	c.(838-840)gCc>gAc	p.A280D	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.A266D|RENBP_ENST00000412763.1_Missense_Mutation_p.P253T	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	280					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.A280D(1)|p.A270D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	AATCACGTGGGCTCGAAGTTC	0.592													G|||	81	0.021457	0.0325	0.0029	3775	,	,		8409	0.0079		0.0219	False		,,,				2504	0.0061															2	Substitution - Missense(2)	ovary(2)	X						G	ASP/ALA	197,3638		2,171,22,1459,549	108	91	97		839	3.3	0	X	dbSNP_131	97	216,6512		2,150,62,2276,1810	yes	missense	RENBP	NM_002910.5	126	4,321,84,3735,2359	TT,TG,T,GG,G		3.2105,5.1369,3.9099	benign	280/428	153207037	413,10150	2203	4300	6503	152860231	SO:0001583	missense	5973				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.839C>A	X.37:g.153207037G>T	ENSP00000377303:p.Ala280Asp		152860231	B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	CCDS14738.2	42|42	0.02531645569620253|0.02531645569620253	11|11	0.022916666666666665|0.022916666666666665	1|1	0.0027624309392265192|0.0027624309392265192	4|4	0.007042253521126761|0.007042253521126761	13|13	0.017379679144385027|0.017379679144385027	G|G	6.705|6.705	0.498797|0.498797	0.12762|0.12762	0.051369|0.051369	0.032105|0.032105	ENSG00000102032|ENSG00000102032	ENST00000393700;ENST00000369997|ENST00000412763	T;T|T	0.26660|0.51325	1.72;1.72|0.71	5.15|5.15	3.35|3.35	0.38373|0.38373	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);|.	0.612514|.	0.17353|.	N|.	0.177323|.	T|T	0.07908|0.07908	0.0198|0.0198	L|L	0.39692|0.39692	1.235|1.235	0.80722|0.80722	P|P	0.0|0.0	B|B	0.17268|0.30973	0.021|0.302	B|B	0.10450|0.29176	0.005|0.099	T|T	0.27088|0.27088	-1.0084|-1.0084	9|8	0.15066|0.87932	T|D	0.55|0	-4.5745|-4.5745	8.9147|8.9147	0.35574|0.35574	0.086:0.1469:0.7672:0.0|0.086:0.1469:0.7672:0.0	.|.	280|253	P51606|P51606-2	RENBP_HUMAN|.	D|T	280;266|253	ENSP00000377303:A280D;ENSP00000359014:A266D|ENSP00000387811:P253T	ENSP00000359014:A266D|ENSP00000387811:P253T	A|P	-|-	2|1	0|0	RENBP|RENBP	152860231|152860231	0.007000|0.007000	0.16637|0.16637	0.002000|0.002000	0.10522|0.10522	0.040000|0.040000	0.13550|0.13550	1.164000|1.164000	0.31810|0.31810	0.397000|0.397000	0.25310|0.25310	0.436000|0.436000	0.28706|0.28706	GCC|CCC		0.592	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		T	153207037	G	T	153207037	3	4	256	1	0	0	0	0	1	0	0	0	13228	1203	42	3	460	3	RENBP	23	153207037	Missense_Mutation	SNP	G	TCGA-24-1614-01A-01W-0552-10	90280798	153207037	2063523	36	14143											
MTCP1	4515	hgsc.bcm.edu	37	X	154293934	154293934	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1614-01A-01W-0552-10	TCGA-24-1614-10A-01W-0552-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8dd4d425-d03b-4167-9212-314bb38fe8ae	48ba40f3-6741-40c1-8756-da1a6b218ff9	g.chrX:154293934T>C	ENST00000369476.3	-	3	815	c.236A>G	c.(235-237)gAt>gGt	p.D79G	MTCP1_ENST00000362018.2_Missense_Mutation_p.D79G|CMC4_ENST00000369479.1_5'Flank|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_5'UTR	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	79					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)		p.D79G(1)		large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGAGTTGTTATCCATGTAGCG	0.468			T	TRA@	T cell prolymphocytic leukemia																																		Dom	yes		X	Xq28	4515	mature T-cell proliferation 1		L	1	Substitution - Missense(1)	ovary(1)	X											118	113	115					X																	154293934		2044	4190	6234	153947128	SO:0001583	missense	4515				CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.236A>G	X.37:g.154293934T>C	ENSP00000358488:p.Asp79Gly		153947128	Q5HYP2	Missense_Mutation	SNP	ENST00000369476.3	37	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400347	0.25291	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	T;T	0.28255	1.62;1.62	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000003	T	0.33294	0.0858	N	0.14661	0.345	0.41532	D	0.988466	D	0.64830	0.994	D	0.79784	0.993	T	0.12372	-1.0550	10	0.11794	T	0.64	-1.5814	11.8204	0.52235	0.0:0.0:0.0:1.0	.	79	P56278	MTCP1_HUMAN	G	79	ENSP00000358488:D79G;ENSP00000355058:D79G	ENSP00000355058:D79G	D	-	2	0	MTCP1	153947128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.859000	0.62954	1.879000	0.54435	0.417000	0.27973	GAT		0.468	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		C	154293934	T	C	154293934	3	2	256	1	0	0	0	0	1	0	0	0	9915	1435	50	4	95	4	MTCP1	23	154293934	Missense_Mutation	SNP	T	TCGA-24-1614-01A-01W-0552-10	1086897	154293934	976626	37	14144											
LPPR4	9890	genome.wustl.edu	37	1	99772257	99772257	+	Silent	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:99772257C>T	ENST00000370185.3	+	7	2480	c.1983C>T	c.(1981-1983)taC>taT	p.Y661Y	LPPR4_ENST00000370184.1_Silent_p.Y503Y|LPPR4_ENST00000457765.1_Silent_p.Y603Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		661					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.Y661Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCCAAACTTACGAGCTCAACG	0.507																																																1	Substitution - coding silent(1)	ovary(1)	1											70	68	69					1																	99772257		2203	4300	6503	99544845	SO:0001819	synonymous_variant	9890																														ENST00000370185.3:c.1983C>T	1.37:g.99772257C>T			99544845	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	CCDS757.1																																																																																				0.507	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99772257	C	T	99772257	2	4	257	1	0	0	0	0	0	0	0	1	8927	547	19	1		1	LPPR4	1	99772257	Silent	SNP	C	TCGA-24-1616-01A-01W-0553-09		99772257	149478364	1	14145											
SYT6	148281	genome.wustl.edu	37	1	114640380	114640380	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:114640380G>C	ENST00000610222.1	-	6	1630	c.1484C>G	c.(1483-1485)tCc>tGc	p.S495C	SYT6_ENST00000369547.1_Missense_Mutation_p.S410C|SYT6_ENST00000393296.1_Missense_Mutation_p.S495C|SYT6_ENST00000609117.1_Missense_Mutation_p.S410C|SYT6_ENST00000607941.1_Missense_Mutation_p.S410C			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	495	Necessary for cell membrane association (isoform 2). {ECO:0000250}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.S410C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCACCAAGGAGTGCCAGTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											138	124	129					1																	114640380		2203	4300	6503	114441903	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1484C>G	1.37:g.114640380G>C	ENSP00000476396:p.Ser495Cys		114441903	B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.932094	0.73442	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.37	4.45	0.53987	C2 calcium/lipid-binding domain, CaLB (1);	0.112214	0.64402	N	0.000009	T	0.68403	0.2997	L	0.46157	1.445	0.38547	D	0.94937	P;P	0.47106	0.89;0.808	P;P	0.54460	0.571;0.753	T	0.73541	-0.3950	10	0.62326	D	0.03	.	16.2874	0.82727	0.0:0.1323:0.8677:0.0	.	495;410	Q5T7P8;Q5T7P8-2	SYT6_HUMAN;.	C	410;495;410;495	ENSP00000358560:S410C;ENSP00000376974:S495C;ENSP00000358559:S410C;ENSP00000358558:S495C	ENSP00000358558:S495C	S	-	2	0	SYT6	114441903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.669000	0.68081	1.234000	0.43709	0.462000	0.41574	TCC		0.582	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		C	114640380	G	C	114640380	3	2	257	1	0	0	0	0	1	0	0	0	15478	1174	41	3	56	3	SYT6	1	114640380	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09	14868123	114640380	134610241	2	14146											
SYT6	148281	genome.wustl.edu	37	1	114641884	114641884	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:114641884G>C	ENST00000610222.1	-	5	1342	c.1196C>G	c.(1195-1197)cCc>cGc	p.P399R	SYT6_ENST00000369547.1_Missense_Mutation_p.P314R|SYT6_ENST00000393296.1_Missense_Mutation_p.P399R|SYT6_ENST00000609117.1_Missense_Mutation_p.P314R|SYT6_ENST00000607941.1_Missense_Mutation_p.P314R			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	399	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.P314R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCACATAGGGATCTGTGCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											145	131	136					1																	114641884		2203	4300	6503	114443407	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1196C>G	1.37:g.114641884G>C	ENSP00000476396:p.Pro399Arg		114443407	B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.153510	0.78114	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.77	5.77	0.91146	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96709	0.9524	10	0.87932	D	0	.	19.9837	0.97340	0.0:0.0:1.0:0.0	.	399	Q5T7P8	SYT6_HUMAN	R	314;399;314;399	ENSP00000358560:P314R;ENSP00000376974:P399R;ENSP00000358559:P314R;ENSP00000358558:P399R	ENSP00000358558:P399R	P	-	2	0	SYT6	114443407	1.000000	0.71417	0.969000	0.41365	0.797000	0.45037	9.869000	0.99810	2.723000	0.93209	0.655000	0.94253	CCC		0.458	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		C	114641884	G	C	114641884	3	2	257	1	0	0	0	0	1	0	0	0	15478	1232	43	3	348	3	SYT6	1	114641884	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09	1504	114641884	134608737	3	14147											
IGSF3	3321	genome.wustl.edu	37	1	117159062	117159062	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:117159062G>A	ENST00000369486.3	-	3	826	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W	IGSF3_ENST00000369483.1_Missense_Mutation_p.R21W|IGSF3_ENST00000318837.6_Missense_Mutation_p.R21W	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	21	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.R21W(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GTGACCTGCCGCTGTGCTGAC	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											22	23	23					1																	117159062		2056	4082	6138	116960585	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.61C>T	1.37:g.117159062G>A	ENSP00000358498:p.Arg21Trp		116960585	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236402	0.39498	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.13307	2.63;2.6;2.6	4.66	1.37	0.22104	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134875	0.48286	D	0.000189	T	0.09730	0.0239	M	0.89534	3.04	0.54753	D	0.999988	B;B	0.24651	0.019;0.108	B;B	0.14023	0.002;0.01	T	0.02567	-1.1140	10	0.87932	D	0	-30.48	6.8773	0.24153	0.0924:0.0:0.5924:0.3152	.	21;21	O75054;A6NJZ6	IGSF3_HUMAN;.	W	21	ENSP00000358498:R21W;ENSP00000358495:R21W;ENSP00000321184:R21W	ENSP00000321184:R21W	R	-	1	2	IGSF3	116960585	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	3.114000	0.50383	0.539000	0.28788	0.455000	0.32223	CGG		0.522	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		A	117159062	G	A	117159062	3	1	257	1	0	0	0	0	1	0	0	0	7601	1086	38	1	3623	1	IGSF3	1	117159062	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09	2517178	117159062	132091559	4	14148											
NOTCH2NL	388677	genome.wustl.edu	37	1	145273262	145273262	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:145273262C>A	ENST00000369340.3	+	4	560	c.116C>A	c.(115-117)aCt>aAt	p.T39N	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.T39N|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.T39N|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.T39N			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	39	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T39N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AATGGTGGGACTTGTGTGGCC	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											103	102	102					1																	145273262		2202	4278	6480	143984619	SO:0001583	missense	388677				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.116C>A	1.37:g.145273262C>A	ENSP00000358346:p.Thr39Asn		143984619	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	CCDS909.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070713	0.55539	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	T;T;T	0.57595	0.39;0.39;0.39	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.57829	0.2080	M	0.66439	2.03	0.27575	N	0.949765	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.45220	-0.9276	9	0.59425	D	0.04	.	11.2552	0.49050	0.0:1.0:0.0:0.0	.	39;39	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	N	39	ENSP00000354929:T39N;ENSP00000344557:T39N;ENSP00000358346:T39N	ENSP00000344557:T39N	T	+	2	0	NOTCH2NL	143984619	0.872000	0.30054	0.987000	0.45799	0.908000	0.53690	2.062000	0.41413	1.532000	0.49169	0.394000	0.25966	ACT		0.537	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		A	145273262	C	A	145273262	3	1	257	1	0	0	0	0	1	0	0	0	10549	565	20	3	122	3	NOTCH2NL	1	145273262	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	28114200	145273262	103977359	5	14149											
ASTN1	460	genome.wustl.edu	37	1	176838105	176838105	+	Silent	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:176838105C>T	ENST00000367654.3	-	22	3757	c.3546G>A	c.(3544-3546)caG>caA	p.Q1182Q	ASTN1_ENST00000424564.2_Silent_p.Q1174Q|ASTN1_ENST00000367657.3_Silent_p.Q1174Q|ASTN1_ENST00000361833.2_Silent_p.Q1174Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1182					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.Q1174Q(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTAGGCGGTCTGCTGCTCCT	0.463																																																1	Substitution - coding silent(1)	ovary(1)	1											150	136	141					1																	176838105		2203	4300	6503	175104728	SO:0001819	synonymous_variant	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3546G>A	1.37:g.176838105C>T			175104728	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																					0.463	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	176838105	C	T	176838105	2	4	257	1	0	0	0	0	0	0	0	1	1064	912	32	2		2	ASTN1	1	176838105	Silent	SNP	C	TCGA-24-1616-01A-01W-0553-09	31564843	176838105	72412516	6	14150											
TEDDM1	127670	genome.wustl.edu	37	1	182368911	182368911	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:182368911T>C	ENST00000367565.1	-	1	840	c.710A>G	c.(709-711)aAa>aGa	p.K237R		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	237						integral component of membrane (GO:0016021)		p.K237R(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						TGGAGCTTCTTTGGGCCCAGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											76	71	73					1																	182368911		2203	4300	6503	180635534	SO:0001583	missense	127670			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.710A>G	1.37:g.182368911T>C	ENSP00000356536:p.Lys237Arg		180635534	Q8IVJ0	Missense_Mutation	SNP	ENST00000367565.1	37	CCDS30953.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375150	0.24857	.	.	ENSG00000203730	ENST00000367565	T	0.49720	0.77	4.73	1.05	0.20165	.	1.001230	0.08058	N	0.997728	T	0.26991	0.0661	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24190	-1.0167	10	0.14656	T	0.56	-1.6573	3.5066	0.07693	0.0:0.2182:0.1994:0.5824	.	237	Q5T9Z0	TEDM1_HUMAN	R	237	ENSP00000356536:K237R	ENSP00000356536:K237R	K	-	2	0	TEDDM1	180635534	0.262000	0.24073	0.001000	0.08648	0.010000	0.07245	0.301000	0.19174	0.016000	0.14998	0.460000	0.39030	AAA		0.488	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		C	182368911	T	C	182368911	3	2	257	1	0	0	0	0	1	0	0	0	15749	1841	64	4	115	4	TEDDM1	1	182368911	Missense_Mutation	SNP	T	TCGA-24-1616-01A-01W-0553-09	5530806	182368911	66881710	7	14151											
PTPRC	5788	genome.wustl.edu	37	1	198671561	198671561	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:198671561C>A	ENST00000367376.2	+	6	650	c.479C>A	c.(478-480)cCa>cAa	p.P160Q	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Missense_Mutation_p.P162Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	160					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P160Q(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTACAGACCCAGTTTCCCCA	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											408	315	346					1																	198671561		2203	4300	6503	196938184	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.479C>A	1.37:g.198671561C>A	ENSP00000356346:p.Pro160Gln		196938184	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	13.10	2.135571	0.37728	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000271610;ENST00000442510;ENST00000367367	.	.	.	5.75	3.88	0.44766	.	1.491290	0.04118	N	0.315827	T	0.49304	0.1549	L	0.54323	1.7	0.19300	N	0.99998	D;D;P	0.55172	0.97;0.967;0.627	P;B;B	0.49708	0.62;0.403;0.184	T	0.19647	-1.0299	9	0.32370	T	0.25	.	8.39	0.32522	0.0:0.8217:0.0:0.1783	.	96;201;160	F5GXZ3;Q6Q1P2;P08575	.;.;PTPRC_HUMAN	Q	162;96;201;160;94	.	ENSP00000271610:P201Q	P	+	2	0	PTPRC	196938184	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.116000	0.15561	0.781000	0.33589	0.650000	0.86243	CCA		0.557	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				A	198671561	C	A	198671561	3	1	257	1	0	0	0	0	1	0	0	0	12800	594	21	3	508	3	PTPRC	1	198671561	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	16302650	198671561	50579060	8	14152											
NFASC	23114	genome.wustl.edu	37	1	204970333	204970333	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:204970333C>T	ENST00000401399.1	+	25	3254	c.3055C>T	c.(3055-3057)Ctc>Ttc	p.L1019F	NFASC_ENST00000539706.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.L1126F|NFASC_ENST00000367171.4_Missense_Mutation_p.L1111F|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.L1047F|NFASC_ENST00000339876.6_Missense_Mutation_p.L1019F|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	1126	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGTCACGGTGCTCCCCAACAG	0.537																																																0			1											93	79	83					1																	204970333		1567	3582	5149	203236956	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3055C>T	1.37:g.204970333C>T	ENSP00000385637:p.Leu1019Phe		203236956	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.903|7.903	0.734895|0.734895	0.15574|0.15574	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000413225|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000401399	.|T;T;T;T;T	.|0.57907	.|0.37;0.37;0.37;0.37;0.37	5.21|5.21	3.1|3.1	0.35709|0.35709	.|.	.|0.873765	.|0.09491	.|N	.|0.794959	T|T	0.39708|0.39708	0.1088|0.1088	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999993|0.999993	.|B	.|0.22983	.|0.078	.|B	.|0.27608	.|0.081	T|T	0.40515|0.40515	-0.9559|-0.9559	5|10	.|0.52906	.|T	.|0.07	.|.	4.4263|4.4263	0.11505|0.11505	0.1744:0.541:0.0:0.2845|0.1744:0.541:0.0:0.2845	.|.	.|1019	.|O94856-9	.|.	V|F	65|1126;1111;1047;1019;1019	.|ENSP00000356140:L1126F;ENSP00000356139:L1111F;ENSP00000356138:L1047F;ENSP00000344786:L1019F;ENSP00000385637:L1019F	.|ENSP00000344786:L1019F	A|L	+|+	2|1	0|0	NFASC|NFASC	203236956|203236956	0.981000|0.981000	0.34729|0.34729	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	0.312000|0.312000	0.19397|0.19397	1.183000|1.183000	0.42943|0.42943	0.655000|0.655000	0.94253|0.94253	GCT|CTC		0.537	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		T	204970333	C	T	204970333	3	4	257	1	0	0	0	0	1	0	0	0	10359	797	28	2	3562	2	NFASC	1	204970333	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	6298772	204970333	44280288	9	14153											
IKBKE	9641	genome.wustl.edu	37	1	206652405	206652405	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr1:206652405C>T	ENST00000367120.3	+	10	1485	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	IKBKE_ENST00000537984.1_Missense_Mutation_p.A286V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	371			A -> T (in dbSNP:rs17021877). {ECO:0000269|PubMed:17344846, ECO:0000269|Ref.4}.		immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.A371V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CAGCACATCGCCCACACGACG	0.632																																																1	Substitution - Missense(1)	ovary(1)	1											95	85	88					1																	206652405		2203	4300	6503	204719028	SO:0001583	missense	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1112C>T	1.37:g.206652405C>T	ENSP00000356087:p.Ala371Val		204719028	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193519	0.58017	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.63417	-0.04;0.1	5.79	1.72	0.24424	.	0.849418	0.11060	N	0.604030	T	0.44726	0.1307	N	0.22421	0.69	0.23731	N	0.996992	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.26052	-1.0114	10	0.25106	T	0.35	4.5422	8.9536	0.35805	0.0:0.5014:0.3647:0.1339	.	286;371	Q3B754;Q14164	.;IKKE_HUMAN	V	371;286	ENSP00000356087:A371V;ENSP00000444529:A286V	ENSP00000356087:A371V	A	+	2	0	IKBKE	204719028	0.325000	0.24660	0.751000	0.31187	0.976000	0.68499	0.899000	0.28417	0.333000	0.23563	0.655000	0.94253	GCC		0.632	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			T	206652405	C	T	206652405	3	4	257	1	0	0	0	0	1	0	0	0	7612	739	26	2	1142	2	IKBKE	1	206652405	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	1682072	206652405	42598216	10	14154											
KIDINS220	57498	genome.wustl.edu	37	2	8926463	8926463	+	Silent	SNP	T	T	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr2:8926463T>C	ENST00000256707.3	-	16	1993	c.1812A>G	c.(1810-1812)agA>agG	p.R604R	KIDINS220_ENST00000418530.1_Silent_p.R562R|KIDINS220_ENST00000427284.1_Silent_p.R604R|KIDINS220_ENST00000473731.1_Silent_p.R604R|KIDINS220_ENST00000319688.5_Silent_p.R605R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	604	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.R604R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CACTGGACAGTCTATTGTAAT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	2											132	124	127					2																	8926463		1838	4093	5931	8843914	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1812A>G	2.37:g.8926463T>C			8843914	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.358	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		C	8926463	T	C	8926463	2	2	257	1	0	0	0	0	0	0	0	1	8271	1664	58	4		4	KIDINS220	2	8926463	Silent	SNP	T	TCGA-24-1616-01A-01W-0553-09		8926463	234272910	11	14155											
TRIM43	129868	genome.wustl.edu	37	2	96259860	96259860	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr2:96259860G>T	ENST00000272395.2	+	2	225	c.89G>T	c.(88-90)tGt>tTt	p.C30F		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	30						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.C30F(1)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ACCATCTGCTGTGGGCACAGC	0.527																																																1	Substitution - Missense(1)	ovary(1)	2											67	67	67					2																	96259860		2201	4296	6497	95623587	SO:0001583	missense	129868			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.89G>T	2.37:g.96259860G>T	ENSP00000272395:p.Cys30Phe		95623587	Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	14.28	2.489194	0.44249	.	.	ENSG00000144015	ENST00000272395	T	0.54866	0.55	1.4	1.4	0.22301	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.81683	0.4874	H	0.99454	4.575	0.35221	D	0.776068	D	0.89917	1.0	D	0.97110	1.0	D	0.86282	0.1668	9	0.87932	D	0	-17.4849	8.855	0.35223	0.0:0.0:1.0:0.0	.	30	Q96BQ3	TRI43_HUMAN	F	30	ENSP00000272395:C30F	ENSP00000272395:C30F	C	+	2	0	TRIM43	95623587	1.000000	0.71417	0.048000	0.18961	0.166000	0.22503	3.927000	0.56499	1.114000	0.41781	0.375000	0.23000	TGT		0.527	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		T	96259860	G	T	96259860	3	4	257	1	0	0	0	0	1	0	0	0	16518	1377	48	3	91	3	TRIM43	2	96259860	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09	87333397	96259860	146939513	12	14156											
NXPH2	11249	genome.wustl.edu	37	2	139428869	139428869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr2:139428869C>A	ENST00000272641.3	-	2	524	c.418G>T	c.(418-420)Gga>Tga	p.G140*		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	140	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.G140*(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTGAAGGTTCCATTTCCATGG	0.413																																																1	Substitution - Nonsense(1)	ovary(1)	2											54	49	50					2																	139428869		1885	4123	6008	139145339	SO:0001587	stop_gained	11249			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.418G>T	2.37:g.139428869C>A	ENSP00000272641:p.Gly140*		139145339	B7WP24|Q494R1|Q75QC3	Nonsense_Mutation	SNP	ENST00000272641.3	37	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014069	0.93404	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.8829	20.1253	0.97977	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	.	G	-	1	0	NXPH2	139145339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	GGA		0.413	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			A	139428869	C	A	139428869	4	1	257	1	0	0	0	0	0	1	0	0	10791	603	21	3	380	3	NXPH2	2	139428869	Nonsense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	43169009	139428869	103770504	13	14157											
ORC4L	5000	genome.wustl.edu	37	2	148730337	148730337	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr2:148730337T>A	ENST00000392857.5	-	4	303	c.196A>T	c.(196-198)Atc>Ttc	p.I66F	ORC4_ENST00000535373.1_Missense_Mutation_p.I66F|ORC4_ENST00000536575.1_Intron|ORC4_ENST00000392858.1_Missense_Mutation_p.I66F|ORC4_ENST00000540442.1_5'UTR|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000264169.2_Missense_Mutation_p.I66F	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	66					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.I66F(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CGGGGTCCGATAATAAGGACA	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											69	72	71					2																	148730337		2203	4300	6503	148446807	SO:0001583	missense	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.196A>T	2.37:g.148730337T>A	ENSP00000376597:p.Ile66Phe		148446807	B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229622	0.79688	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000392857;ENST00000416719;ENST00000457954;ENST00000440042	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.88	1.01	0.19927	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.112463	0.64402	D	0.000006	T	0.36248	0.0960	L	0.43701	1.375	0.80722	D	1	P;P;P	0.47106	0.82;0.89;0.82	P;P;P	0.54889	0.763;0.724;0.584	T	0.18555	-1.0333	10	0.10111	T	0.7	-8.4926	8.9634	0.35860	0.0:0.2852:0.0:0.7148	.	66;66;66	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	F	66	ENSP00000264169:I66F;ENSP00000441953:I66F;ENSP00000376598:I66F;ENSP00000376597:I66F;ENSP00000413939:I66F;ENSP00000391484:I66F;ENSP00000403105:I66F	ENSP00000264169:I66F	I	-	1	0	ORC4	148446807	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.753000	0.38359	-0.049000	0.13379	0.533000	0.62120	ATC		0.333	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		A	148730337	T	A	148730337	3	1	257	1	0	0	0	0	1	0	0	0	11264	1406	49	5	1158	5	ORC4L	2	148730337	Missense_Mutation	SNP	T	TCGA-24-1616-01A-01W-0553-09	9301468	148730337	94469036	14	14158											
GPD2	2820	genome.wustl.edu	37	2	157439369	157439369	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr2:157439369C>T	ENST00000310454.6	+	17	2495	c.2123C>T	c.(2122-2124)gCa>gTa	p.A708V	GPD2_ENST00000409125.4_Missense_Mutation_p.A481V|GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000409674.1_Missense_Mutation_p.A708V|GPD2_ENST00000438166.2_Missense_Mutation_p.A708V	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	708					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.A708V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ATGAAAACTGCAGAAGAGAAC	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											112	106	108					2																	157439369		2203	4300	6503	157147615	SO:0001583	missense	2820				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.2123C>T	2.37:g.157439369C>T	ENSP00000308610:p.Ala708Val		157147615	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683068	0.47991	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.57436	0.4;0.65;0.4;0.4	5.22	4.34	0.51931	.	0.048803	0.85682	D	0.000000	T	0.36496	0.0969	N	0.17082	0.46	0.54753	D	0.999982	B	0.09022	0.002	B	0.15484	0.013	T	0.09640	-1.0665	10	0.25751	T	0.34	.	13.9405	0.64052	0.0:0.9261:0.0:0.0739	.	708	P43304	GPDM_HUMAN	V	708;481;708;708	ENSP00000308610:A708V;ENSP00000386484:A481V;ENSP00000409708:A708V;ENSP00000386425:A708V	ENSP00000308610:A708V	A	+	2	0	GPD2	157147615	1.000000	0.71417	0.902000	0.35471	0.983000	0.72400	4.621000	0.61233	1.197000	0.43143	0.313000	0.20887	GCA		0.438	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			T	157439369	C	T	157439369	3	4	257	1	0	0	0	0	1	0	0	0	6606	710	25	2	2185	2	GPD2	2	157439369	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	8709032	157439369	85760004	15	14159											
GULP1	51454	genome.wustl.edu	37	2	189449041	189449041	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr2:189449041T>C	ENST00000409580.1	+	11	1373	c.659T>C	c.(658-660)aTt>aCt	p.I220T	GULP1_ENST00000409843.1_Missense_Mutation_p.I220T|GULP1_ENST00000409830.1_Missense_Mutation_p.I220T|GULP1_ENST00000359135.3_Missense_Mutation_p.I220T|GULP1_ENST00000409805.1_Missense_Mutation_p.I117T|GULP1_ENST00000409609.1_Missense_Mutation_p.I220T			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	220					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)	p.I220T(1)		endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTGATATGATTCCATTTTCT	0.408																																					Pancreas(178;563 2065 20199 42378 52815)											1	Substitution - Missense(1)	ovary(1)	2											245	209	221					2																	189449041		2203	4300	6503	189157286	SO:0001583	missense	51454			AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.659T>C	2.37:g.189449041T>C	ENSP00000386289:p.Ile220Thr		189157286	B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.016473|4.016473	0.75161|0.75161	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000451191;ENST00000433052|ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609	.|T;T;T;T;T	.|0.40756	.|1.02;1.02;1.02;1.02;1.02	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.313323	.|0.35124	.|N	.|0.003433	T|T	0.46229|0.46229	0.1382|0.1382	L|L	0.44542|0.44542	1.39|1.39	0.49130|0.49130	D|D	0.999753|0.999753	.|P;D;B;B	.|0.56746	.|0.763;0.977;0.03;0.039	.|B;P;B;B	.|0.53593	.|0.124;0.73;0.022;0.01	T|T	0.26258|0.26258	-1.0108|-1.0108	5|10	.|0.14252	.|T	.|0.57	-9.0931|-9.0931	15.0091|15.0091	0.71536|0.71536	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|117;44;220;220	.|E9PB86;Q59EC1;Q9UBP9;B8ZZ72	.|.;.;GULP1_HUMAN;.	L|T	45;105|220;220;117;220;220;220	.|ENSP00000387144:I220T;ENSP00000386732:I220T;ENSP00000352047:I220T;ENSP00000386289:I220T;ENSP00000386867:I220T	.|ENSP00000352047:I220T	F|I	+|+	1|2	0|0	GULP1|GULP1	189157286|189157286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.959000|6.959000	0.76031|0.76031	2.149000|2.149000	0.67028|0.67028	0.528000|0.528000	0.53228|0.53228	TTC|ATT		0.408	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		C	189449041	T	C	189449041	3	2	257	1	0	0	0	0	1	0	0	0	6901	1493	52	4	689	4	GULP1	2	189449041	Missense_Mutation	SNP	T	TCGA-24-1616-01A-01W-0553-09	32009672	189449041	53750332	16	14160											
KCNH8	131096	genome.wustl.edu	37	3	19322773	19322773	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr3:19322773G>T	ENST00000328405.2	+	3	660	c.394G>T	c.(394-396)Gat>Tat	p.D132Y		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	132	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.D132Y(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTCGTTCAAAGATATAACAGA	0.348																																					NSCLC(124;1625 1765 8018 24930 42026)											1	Substitution - Missense(1)	ovary(1)	3											88	95	93					3																	19322773		2203	4299	6502	19297777	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.394G>T	3.37:g.19322773G>T	ENSP00000328813:p.Asp132Tyr		19297777	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509352	0.85282	.	.	ENSG00000183960	ENST00000328405	D	0.99936	-8.3	6.17	6.17	0.99709	PAS-associated, C-terminal (1);PAS (1);	0.000000	0.32244	U	0.006369	D	0.99953	0.9980	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.96517	0.9383	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	132;132	B7Z398;Q96L42	.;KCNH8_HUMAN	Y	132	ENSP00000328813:D132Y	.	D	+	1	0	KCNH8	19297777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAT		0.348	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		T	19322773	G	T	19322773	3	4	257	1	0	0	0	0	1	0	0	0	8038	942	33	3	404	3	KCNH8	3	19322773	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09		19322773	178699657	17	14161											
ECE2	9718	genome.wustl.edu	37	3	184008373	184008373	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr3:184008373G>A	ENST00000402825.3	+	15	2038	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T	ECE2_ENST00000359140.4_Missense_Mutation_p.A533T|ECE2_ENST00000357474.5_Missense_Mutation_p.A608T|ECE2_ENST00000404464.3_Missense_Mutation_p.A562T|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	680	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.A533T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACAGTGAATGCCTACTACCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	3											87	91	90					3																	184008373		2203	4300	6503	185491067	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2038G>A	3.37:g.184008373G>A	ENSP00000384223:p.Ala680Thr		185491067	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	34	5.377777	0.95945	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.57	5.57	0.84162	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	H	0.99689	4.705	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.993;0.993;0.993;0.999;0.995;0.988;0.993	D	0.99605	1.0979	10	0.87932	D	0	-19.8882	18.1065	0.89521	0.0:0.0:1.0:0.0	.	282;533;551;562;608;533;680	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	T	680;533;562;608;554	ENSP00000384223:A680T;ENSP00000352052:A533T;ENSP00000385846:A562T;ENSP00000350066:A608T;ENSP00000398444:A554T	ENSP00000350066:A608T	A	+	1	0	ECE2	185491067	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.869000	0.99810	2.616000	0.88540	0.555000	0.69702	GCC		0.612	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		A	184008373	G	A	184008373	3	1	257	1	0	0	0	0	1	0	0	0	4890	1319	46	2	2660	2	ECE2	3	184008373	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09	164685600	184008373	14014057	18	14162											
AASDH	132949	genome.wustl.edu	37	4	57220264	57220264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr4:57220264G>A	ENST00000205214.6	-	8	1504	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	AASDH_ENST00000602986.1_Nonsense_Mutation_p.R289*|AASDH_ENST00000513376.1_Nonsense_Mutation_p.R342*|AASDH_ENST00000502617.1_Nonsense_Mutation_p.R442*|AASDH_ENST00000451613.1_Nonsense_Mutation_p.R442*|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000510762.1_5'Flank	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	442					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.R442*(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTGTCTTTTCGTCCCAAAAAA	0.358																																																1	Substitution - Nonsense(1)	ovary(1)	4											95	89	91					4																	57220264		2203	4300	6503	56915021	SO:0001587	stop_gained	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1324C>T	4.37:g.57220264G>A	ENSP00000205214:p.Arg442*		56915021	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Nonsense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	38	7.017796	0.98006	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	.	.	.	6.05	4.26	0.50523	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6433	14.3791	0.66900	0.0:0.0:0.4769:0.5231	.	.	.	.	X	442;342;442;289;442	.	ENSP00000205214:R442X	R	-	1	2	AASDH	56915021	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	2.109000	0.41863	0.804000	0.34136	0.650000	0.86243	CGA		0.358	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		A	57220264	G	A	57220264	4	1	257	1	0	0	0	0	0	1	0	0	22	1153	40	1	2004	1	AASDH	4	57220264	Nonsense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09		57220264	133934012	19	14163											
LPHN3	23284	genome.wustl.edu	37	4	62812764	62812764	+	Missense_Mutation	SNP	C	C	G	rs201709145		TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr4:62812764C>G	ENST00000514591.1	+	15	2677	c.2348C>G	c.(2347-2349)aCg>aGg	p.T783R	LPHN3_ENST00000506746.1_Missense_Mutation_p.T851R|LPHN3_ENST00000511324.1_Missense_Mutation_p.T851R|LPHN3_ENST00000545650.1_Missense_Mutation_p.T783R|LPHN3_ENST00000507164.1_Missense_Mutation_p.T851R|LPHN3_ENST00000514996.1_Missense_Mutation_p.T783R|LPHN3_ENST00000514157.1_Missense_Mutation_p.T783R|LPHN3_ENST00000506700.1_Missense_Mutation_p.T783R|LPHN3_ENST00000508946.1_Missense_Mutation_p.T783R|LPHN3_ENST00000507625.1_Missense_Mutation_p.T851R|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000512091.2_Missense_Mutation_p.T783R|LPHN3_ENST00000508693.1_Missense_Mutation_p.T851R|LPHN3_ENST00000504896.1_Missense_Mutation_p.T783R|LPHN3_ENST00000506720.1_Missense_Mutation_p.T851R|LPHN3_ENST00000509896.1_Missense_Mutation_p.T851R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	770					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.T783K(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTGTTATTACGGCAGCAATA	0.378																																																3	Substitution - Missense(3)	endometrium(3)	4											173	161	165					4																	62812764		1875	4098	5973	62495359	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2348C>G	4.37:g.62812764C>G	ENSP00000422533:p.Thr783Arg		62495359	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.446218|4.446218	0.84101|0.84101	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.10860|.	2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Domain of unknown function DUF3497 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.65903|.	0.2736|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.994;0.996;0.994|.	P;D;P|.	0.66351|.	0.897;0.943;0.785|.	T|.	0.60672|.	-0.7217|.	10|.	0.87932|.	D|.	0|.	.|.	19.4278|19.4278	0.94751|0.94751	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	783;770;783|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	R|X	783;783;851;851;783;783;770;783;851;851;851;783;783;783;851;851;783|240	ENSP00000423388:T783R;ENSP00000422533:T783R;ENSP00000423787:T851R;ENSP00000425033:T851R;ENSP00000424120:T783R;ENSP00000439831:T783R;ENSP00000421476:T851R;ENSP00000424030:T851R;ENSP00000421372:T851R;ENSP00000425201:T783R;ENSP00000423434:T783R;ENSP00000421627:T783R;ENSP00000420931:T851R;ENSP00000425884:T851R;ENSP00000424258:T783R|.	ENSP00000280009:T783R|.	T|Y	+|+	2|3	0|2	LPHN3|LPHN3	62495359|62495359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.774000|0.774000	0.43823|0.43823	7.818000|7.818000	0.86416|0.86416	2.595000|2.595000	0.87683|0.87683	0.557000|0.557000	0.71058|0.71058	ACG|TAC		0.378	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			G	62812764	C	G	62812764	3	3	257	1	0	0	0	0	1	0	0	0	8917	536	19	3	2398	3	LPHN3	4	62812764	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	5592500	62812764	128341512	20	14164											
FYB	2533	genome.wustl.edu	37	5	39134376	39134376	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr5:39134376G>A	ENST00000351578.6	-	9	1941	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	FYB_ENST00000505428.1_Missense_Mutation_p.P584L|FYB_ENST00000512982.1_Missense_Mutation_p.P584L|FYB_ENST00000540520.1_Missense_Mutation_p.P594L|FYB_ENST00000515010.1_Missense_Mutation_p.P584L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	584					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P584L(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AGGTCTTGAAGGGGCACCAAG	0.358																																																1	Substitution - Missense(1)	ovary(1)	5											173	172	173					5																	39134376		1855	4103	5958	39170133	SO:0001583	missense	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1751C>T	5.37:g.39134376G>A	ENSP00000316460:p.Pro584Leu		39170133	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	1.135	-0.651161	0.03506	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.26373	1.77;1.77;1.74;1.74;1.75	5.93	0.43	0.16515	.	1.749730	0.02482	N	0.088621	T	0.05410	0.0143	N	0.00162	-1.95	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25117	-1.0141	10	0.14656	T	0.56	-0.8458	2.1762	0.03863	0.508:0.2428:0.1322:0.117	.	594;584	B4DLN2;O15117	.;FYB_HUMAN	L	584;584;584;584;594;584	ENSP00000316460:P584L;ENSP00000426346:P584L;ENSP00000425845:P584L;ENSP00000427114:P584L;ENSP00000442840:P594L	ENSP00000316460:P584L	P	-	2	0	FYB	39170133	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.477000	0.22196	0.100000	0.17581	-0.290000	0.09829	CCT		0.358	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		A	39134376	G	A	39134376	3	1	257	1	0	0	0	0	1	0	0	0	6124	1000	35	2	782	2	FYB	5	39134376	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09		39134376	141780884	21	14165											
VCAN	1462	genome.wustl.edu	37	5	82835549	82835549	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr5:82835549A>G	ENST00000265077.3	+	8	7292	c.6727A>G	c.(6727-6729)Aca>Gca	p.T2243A	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1256A|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2243	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T2243A(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CATGAGACCAACAATTCAAGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	5											66	65	66					5																	82835549		2203	4300	6503	82871305	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6727A>G	5.37:g.82835549A>G	ENSP00000265077:p.Thr2243Ala		82871305	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320971	0.23994	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.31510	1.49;1.49	5.93	4.74	0.60224	.	0.513050	0.19204	N	0.120115	T	0.23611	0.0571	L	0.46157	1.445	0.24261	N	0.99528	B;B	0.33171	0.4;0.278	B;B	0.31101	0.124;0.084	T	0.29088	-1.0023	10	0.54805	T	0.06	.	4.5025	0.11870	0.6829:0.1279:0.0668:0.1224	.	1256;2243	P13611-2;P13611	.;CSPG2_HUMAN	A	2243;1256	ENSP00000265077:T2243A;ENSP00000340062:T1256A	ENSP00000265077:T2243A	T	+	1	0	VCAN	82871305	0.000000	0.05858	0.030000	0.17652	0.591000	0.36615	0.073000	0.14640	1.035000	0.39972	0.533000	0.62120	ACA		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		G	82835549	A	G	82835549	3	3	257	1	0	0	0	0	1	0	0	0	17138	43	2	4	6753	4	VCAN	5	82835549	Missense_Mutation	SNP	A	TCGA-24-1616-01A-01W-0553-09	43701173	82835549	98079711	22	14166											
TTC37	9652	genome.wustl.edu	37	5	94856478	94856478	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr5:94856478C>G	ENST00000358746.2	-	20	2354	c.2056G>C	c.(2056-2058)Gat>Cat	p.D686H	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	686						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.D686H(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCAAGATAATCAACTAGAGCT	0.284																																																1	Substitution - Missense(1)	ovary(1)	5											68	71	70					5																	94856478		2203	4298	6501	94882234	SO:0001583	missense	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2056G>C	5.37:g.94856478C>G	ENSP00000351596:p.Asp686His		94882234	O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840718	0.71488	.	.	ENSG00000198677	ENST00000358746	T	0.79554	-1.28	5.17	5.17	0.71159	Tetratricopeptide-like helical (1);	0.114763	0.56097	D	0.000030	T	0.76513	0.3998	L	0.56769	1.78	0.49915	D	0.999834	P	0.51147	0.942	B	0.42653	0.394	T	0.77178	-0.2683	10	0.41790	T	0.15	.	10.7833	0.46390	0.0:0.9046:0.0:0.0954	.	686	Q6PGP7	TTC37_HUMAN	H	686	ENSP00000351596:D686H	ENSP00000351596:D686H	D	-	1	0	TTC37	94882234	0.857000	0.29778	0.992000	0.48379	0.991000	0.79684	1.517000	0.35867	2.395000	0.81488	0.650000	0.86243	GAT		0.284	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		G	94856478	C	G	94856478	3	3	257	1	0	0	0	0	1	0	0	0	16705	826	29	3	2734	3	TTC37	5	94856478	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	12020929	94856478	86058782	23	14167			1	10		3	3	1404	C		3.566115e-06
TTC37	9652	genome.wustl.edu	37	5	94856496	94856496	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr5:94856496C>A	ENST00000358746.2	-	20	2336	c.2038G>T	c.(2038-2040)Gca>Tca	p.A680S	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	680						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.A680S(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GCTGCTTTTGCCATCATAAGA	0.294																																																1	Substitution - Missense(1)	ovary(1)	5											64	67	66					5																	94856496		2203	4298	6501	94882252	SO:0001583	missense	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2038G>T	5.37:g.94856496C>A	ENSP00000351596:p.Ala680Ser		94882252	O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675615	0.88445	.	.	ENSG00000198677	ENST00000358746	D	0.81499	-1.5	5.17	5.17	0.71159	Tetratricopeptide-like helical (1);	0.194058	0.44097	D	0.000490	T	0.80989	0.4730	M	0.70275	2.135	0.54753	D	0.999985	P	0.48589	0.912	B	0.43082	0.407	T	0.80915	-0.1169	10	0.31617	T	0.26	.	16.8586	0.86012	0.0:1.0:0.0:0.0	.	680	Q6PGP7	TTC37_HUMAN	S	680	ENSP00000351596:A680S	ENSP00000351596:A680S	A	-	1	0	TTC37	94882252	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.274000	0.58921	2.395000	0.81488	0.650000	0.86243	GCA		0.294	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		A	94856496	C	A	94856496	3	1	257	1	0	0	0	0	1	0	0	0	16705	739	26	3	2752	3	TTC37	5	94856496	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	18	94856496	86058764	24	14168			1	10		3	3	1404	C		3.566115e-06
TTC37	9652	genome.wustl.edu	37	5	94857881	94857881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr5:94857881C>A	ENST00000358746.2	-	19	2186	c.1888G>T	c.(1888-1890)Gaa>Taa	p.E630*	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	630						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.E630*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TATATGGATTCTGGGTTCAGC	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	5											218	196	203					5																	94857881		2203	4300	6503	94883637	SO:0001587	stop_gained	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1888G>T	5.37:g.94857881C>A	ENSP00000351596:p.Glu630*		94883637	O15077|Q6PJI3	Nonsense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	39	7.302085	0.98196	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	.	.	.	4.72	3.85	0.44370	.	0.547911	0.19517	N	0.112380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	10.2606	0.43425	0.0:0.8398:0.0:0.1602	.	.	.	.	X	630;582	.	ENSP00000351596:E630X	E	-	1	0	TTC37	94883637	0.002000	0.14202	1.000000	0.80357	0.969000	0.65631	0.519000	0.22862	1.120000	0.41904	0.467000	0.42956	GAA		0.418	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		A	94857881	C	A	94857881	4	1	257	1	0	0	0	0	0	1	0	0	16705	922	32	3	2906	3	TTC37	5	94857881	Nonsense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	1385	94857881	86057379	25	14169			1	10		3	3	1404	C		3.566115e-06
GABRG2	2566	genome.wustl.edu	37	5	161580301	161580301	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr5:161580301A>G	ENST00000361925.4	+	9	1551	c.1331A>G	c.(1330-1332)tAt>tGt	p.Y444C	GABRG2_ENST00000393933.4_Missense_Mutation_p.Y349C|GABRG2_ENST00000414552.2_Missense_Mutation_p.Y492C|GABRG2_ENST00000356592.3_Missense_Mutation_p.Y452C			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	444					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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.Y452C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGACTCCTATGCTCGGATC	0.473																																																1	Substitution - Missense(1)	ovary(1)	5											276	275	276					5																	161580301		2203	4300	6503	161512879	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1331A>G	5.37:g.161580301A>G	ENSP00000354651:p.Tyr444Cys		161512879	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753779	0.69648	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.056659	0.64402	D	0.000001	D	0.92140	0.7508	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92897	0.6336	10	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	492;444;452	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	C	452;492;444;349	ENSP00000349000:Y452C;ENSP00000410732:Y492C;ENSP00000354651:Y444C;ENSP00000377510:Y349C	ENSP00000349000:Y452C	Y	+	2	0	GABRG2	161512879	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.228000	0.95250	2.279000	0.76181	0.533000	0.62120	TAT		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			G	161580301	A	G	161580301	3	3	257	1	0	0	0	0	1	0	0	0	6172	449	16	4	1517	4	GABRG2	5	161580301	Missense_Mutation	SNP	A	TCGA-24-1616-01A-01W-0553-09	66722420	161580301	19334959	26	14170											
HIST1H1C	3006	genome.wustl.edu	37	6	26056646	26056646	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr6:26056646G>C	ENST00000343677.2	-	1	53	c.11C>G	c.(10-12)aCt>aGt	p.T4S		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	4					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.T4S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GGCAGGAGCAGTCTCGGACAT	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											24	28	26					6																	26056646		2181	4266	6447	26164625	SO:0001583	missense	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.11C>G	6.37:g.26056646G>C	ENSP00000339566:p.Thr4Ser		26164625	A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328349	0.60743	.	.	ENSG00000187837	ENST00000343677	T	0.04758	3.56	5.62	5.62	0.85841	.	0.422095	0.25756	N	0.028515	T	0.01661	0.0053	N	0.08118	0	0.39371	D	0.966086	B	0.27853	0.191	B	0.23852	0.049	T	0.57625	-0.7779	10	0.42905	T	0.14	-7.2852	19.0125	0.92879	0.0:0.0:1.0:0.0	.	4	P16403	H12_HUMAN	S	4	ENSP00000339566:T4S	ENSP00000339566:T4S	T	-	2	0	HIST1H1C	26164625	0.977000	0.34250	0.991000	0.47740	0.891000	0.51852	1.858000	0.39408	2.804000	0.96469	0.655000	0.94253	ACT		0.617	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		C	26056646	G	C	26056646	3	2	257	1	0	0	0	0	1	0	0	0	7124	1029	36	3	634	3	HIST1H1C	6	26056646	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09		26056646	145058421	27	14171											
KCNQ5	56479	genome.wustl.edu	37	6	73787518	73787518	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr6:73787518G>A	ENST00000370398.1	+	5	935	c.826G>A	c.(826-828)Gtt>Att	p.V276I	KCNQ5_ENST00000355635.3_Missense_Mutation_p.V276I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.V276I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.V276I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V276I|KCNQ5_ENST00000370392.1_Missense_Mutation_p.V276I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V276I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.V276I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	276					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.V276I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	AGGATTTTTGGTTCTTATTTT	0.343																																					GBM(142;1375 1859 14391 23261 44706)											1	Substitution - Missense(1)	ovary(1)	6											141	120	127					6																	73787518		2203	4300	6503	73844239	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.826G>A	6.37:g.73787518G>A	ENSP00000359425:p.Val276Ile		73844239	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307570	0.81247	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	5.86	5.86	0.93980	Ion transport (1);	0.060780	0.64402	D	0.000003	D	0.97266	0.9106	N	0.13371	0.34	0.53005	D	0.999964	B;P;P;P;D;D	0.60160	0.302;0.914;0.778;0.737;0.987;0.967	B;P;P;B;D;P	0.65140	0.395;0.677;0.674;0.442;0.932;0.852	D	0.98378	1.0557	10	0.56958	D	0.05	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	276;276;276;276;276;276	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	I	276	ENSP00000345055:V276I;ENSP00000347326:V276I;ENSP00000359425:V276I;ENSP00000359419:V276I;ENSP00000385501:V276I;ENSP00000347853:V276I;ENSP00000384453:V276I;ENSP00000409861:V276I	ENSP00000345055:V276I	V	+	1	0	KCNQ5	73844239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.771000	0.95319	0.650000	0.86243	GTT		0.343	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		A	73787518	G	A	73787518	3	1	257	1	0	0	0	0	1	0	0	0	8086	1261	44	2	844	2	KCNQ5	6	73787518	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09	47730872	73787518	97327549	28	14172											
PLEKHG1	57480	genome.wustl.edu	37	6	151089810	151089810	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr6:151089810C>T	ENST00000358517.2	+	3	659	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.P150S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	150	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P150S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AACAAAACTTCCCCTGGGGAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	6											106	96	99					6																	151089810		2203	4300	6503	151131503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.448C>T	6.37:g.151089810C>T	ENSP00000351318:p.Pro150Ser		151131503	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085718	0.36758	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.66460	-0.21;-0.21	6.02	5.05	0.67936	Dbl homology (DH) domain (5);	0.247067	0.47455	D	0.000235	T	0.45617	0.1351	M	0.65975	2.015	0.35125	D	0.767386	B;B	0.20164	0.042;0.042	B;B	0.23716	0.048;0.048	T	0.42378	-0.9455	10	0.23891	T	0.37	.	6.782	0.23650	0.0:0.7322:0.0:0.2678	.	150;150	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	S	150	ENSP00000356297:P150S;ENSP00000351318:P150S	ENSP00000351318:P150S	P	+	1	0	PLEKHG1	151131503	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.478000	0.45189	2.865000	0.98341	0.655000	0.94253	CCC		0.398	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			T	151089810	C	T	151089810	3	4	257	1	0	0	0	0	1	0	0	0	12068	855	30	2	454	2	PLEKHG1	6	151089810	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	77302292	151089810	20025257	29	14173											
KCTD7	154881	genome.wustl.edu	37	7	66103879	66103879	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr7:66103879G>A	ENST00000275532.3	+	4	714	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	177					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R177H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCCGGCTGCGTGCGGTCCAG	0.577																																																1	Substitution - Missense(1)	ovary(1)	7											62	63	63					7																	66103879		2203	4300	6503	65741314	SO:0001583	missense	154881			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.530G>A	7.37:g.66103879G>A	ENSP00000275532:p.Arg177His		65741314	A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	g	34	5.320885	0.95682	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.79033	-1.23;-1.23	5.36	5.36	0.76844	.	.	.	.	.	T	0.79411	0.4441	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.51170	0.661	T	0.80476	-0.1366	9	0.52906	T	0.07	.	18.4294	0.90620	0.0:0.0:1.0:0.0	.	177	Q96MP8	KCTD7_HUMAN	H	177	ENSP00000275532:R177H;ENSP00000411624:R177H	ENSP00000275532:R177H	R	+	2	0	KCTD7	65741314	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	9.097000	0.94193	2.675000	0.91044	0.655000	0.94253	CGT		0.577	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		A	66103879	G	A	66103879	3	1	257	1	0	0	0	0	1	0	0	0	8114	1145	40	1	544	1	KCTD7	7	66103879	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09		66103879	93034784	30	14174											
GCC1	79571	genome.wustl.edu	37	7	127222792	127222792	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr7:127222792C>T	ENST00000321407.2	-	2	2028	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	535					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R535Q(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCAGGAGAGCCGCAGGGAAAT	0.587																																																1	Substitution - Missense(1)	ovary(1)	7											55	57	56					7																	127222792		2203	4300	6503	127010028	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1604G>A	7.37:g.127222792C>T	ENSP00000318821:p.Arg535Gln		127010028	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014971	0.35511	.	.	ENSG00000179562	ENST00000321407	T	0.13657	2.57	5.29	5.29	0.74685	.	0.121836	0.56097	D	0.000021	T	0.08670	0.0215	L	0.37507	1.11	0.58432	D	0.999999	P	0.42248	0.774	B	0.26864	0.074	T	0.21042	-1.0257	10	0.07644	T	0.81	-16.0812	16.7981	0.85607	0.0:1.0:0.0:0.0	.	535	Q96CN9	GCC1_HUMAN	Q	535	ENSP00000318821:R535Q	ENSP00000318821:R535Q	R	-	2	0	GCC1	127010028	1.000000	0.71417	0.966000	0.40874	0.025000	0.11179	5.648000	0.67930	2.625000	0.88918	0.655000	0.94253	CGG		0.587	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		T	127222792	C	T	127222792	3	4	257	1	0	0	0	0	1	0	0	0	6285	652	23	1	727	1	GCC1	7	127222792	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	61118913	127222792	31915871	31	14175											
TNPO3	23534	genome.wustl.edu	37	7	128612519	128612519	+	Silent	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr7:128612519C>T	ENST00000265388.5	-	19	2534	c.2391G>A	c.(2389-2391)agG>agA	p.R797R	TNPO3_ENST00000471166.1_Silent_p.R831R|RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000471234.1_Silent_p.R733R|TNPO3_ENST00000393245.1_Silent_p.R831R|TNPO3_ENST00000482320.1_Silent_p.R731R			Q9Y5L0	TNPO3_HUMAN	transportin 3	797					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)	p.R797R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CTCGTAGAAACCTCATGACAC	0.448																																					Pancreas(147;583 2585 39696 52331)											1	Substitution - coding silent(1)	ovary(1)	7											111	99	103					7																	128612519		2203	4300	6503	128399755	SO:0001819	synonymous_variant	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2391G>A	7.37:g.128612519C>T			128399755	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	CCDS5809.1																																																																																				0.448	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		T	128612519	C	T	128612519	2	4	257	1	0	0	0	0	0	0	0	1	16337	506	18	2		2	TNPO3	7	128612519	Silent	SNP	C	TCGA-24-1616-01A-01W-0553-09	1389727	128612519	30526144	32	14176											
HAS2	3037	genome.wustl.edu	37	8	122626537	122626537	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr8:122626537C>A	ENST00000303924.4	-	4	2008	c.1471G>T	c.(1471-1473)Ggt>Tgt	p.G491C		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	491					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.G491C(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAAATCACACCACCCAGGAGG	0.398																																																1	Substitution - Missense(1)	ovary(1)	8											109	107	107					8																	122626537		2203	4300	6503	122695718	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1471G>T	8.37:g.122626537C>A	ENSP00000306991:p.Gly491Cys		122695718	Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258685	0.59321	.	.	ENSG00000170961	ENST00000303924	T	0.58797	0.31	6.17	5.3	0.74995	.	0.042355	0.85682	D	0.000000	T	0.76572	0.4006	M	0.77486	2.375	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.80348	-0.1420	10	0.87932	D	0	-15.8617	15.699	0.77528	0.0:0.9348:0.0:0.0652	.	491	Q92819	HAS2_HUMAN	C	491	ENSP00000306991:G491C	ENSP00000306991:G491C	G	-	1	0	HAS2	122695718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.808000	0.86044	1.630000	0.50440	0.655000	0.94253	GGT		0.398	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		A	122626537	C	A	122626537	3	1	257	1	0	0	0	0	1	0	0	0	6962	594	21	3	191	3	HAS2	8	122626537	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09		122626537	23737485	33	14177											
IFNA17	3451	genome.wustl.edu	37	9	21227987	21227987	+	Silent	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr9:21227987G>A	ENST00000413767.2	-	1	234	c.186C>T	c.(184-186)ccC>ccT	p.P62P		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	62					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.P62P(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ACTCCTCCTGGGGAAGTCCAA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	9											135	137	136					9																	21227987		2203	4300	6503	21217987	SO:0001819	synonymous_variant	3451				CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"Interferons"	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.186C>T	9.37:g.21227987G>A			21217987	Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Silent	SNP	ENST00000413767.2	37	CCDS6500.1																																																																																				0.512	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		A	21227987	G	A	21227987	2	1	257	1	0	0	0	0	0	0	0	1	7536	1219	43	2		2	IFNA17	9	21227987	Silent	SNP	G	TCGA-24-1616-01A-01W-0553-09		21227987	119985444	34	14178											
FLJ46321	389763	genome.wustl.edu	37	9	84609603	84609603	+	Silent	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr9:84609603G>A	ENST00000344803.2	+	4	4265	c.4218G>A	c.(4216-4218)agG>agA	p.R1406R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1406					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R1406R(1)									AGAAAATTAGGAAAGACACTA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	9											27	26	26					9																	84609603		1865	4108	5973	83799423	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4218G>A	9.37:g.84609603G>A			83799423		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.498	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		A	84609603	G	A	84609603	2	1	257	1	0	0	0	0	0	0	0	1	5932	1165	41	2		2	FLJ46321	9	84609603	Silent	SNP	G	TCGA-24-1616-01A-01W-0553-09	63381616	84609603	56603828	35	14179											
ACADSB	36	genome.wustl.edu	37	10	124802682	124802682	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr10:124802682G>A	ENST00000358776.4	+	6	816	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	ACADSB_ENST00000368869.4_Missense_Mutation_p.V166I|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	268					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.V268I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	ATTCGAAAATGTCAAGGTGGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	10											87	85	86					10																	124802682		2203	4300	6503	124792672	SO:0001583	missense	36			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.802G>A	10.37:g.124802682G>A	ENSP00000357873:p.Val268Ile		124792672	B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974656	0.74360	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99369	-5.78;-5.78	5.76	5.76	0.90799	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99010	0.9662	M	0.93241	3.395	0.80722	D	1	B	0.31054	0.306	B	0.24006	0.05	D	0.98860	1.0762	10	0.62326	D	0.03	.	19.9857	0.97347	0.0:0.0:1.0:0.0	.	268	P45954	ACDSB_HUMAN	I	166;268	ENSP00000357862:V166I;ENSP00000357873:V268I	ENSP00000357873:V268I	V	+	1	0	ACADSB	124792672	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.578000	0.74032	2.706000	0.92434	0.655000	0.94253	GTC		0.443	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		A	124802682	G	A	124802682	3	1	257	1	0	0	0	0	1	0	0	0	115	1377	48	2	824	2	ACADSB	10	124802682	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09		124802682	10732065	36	14180											
MPEG1	219972	genome.wustl.edu	37	11	58978843	58978843	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr11:58978843G>C	ENST00000361050.3	-	1	1581	c.1496C>G	c.(1495-1497)gCc>gGc	p.A499G		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	499						integral component of membrane (GO:0016021)		p.A499G(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AAAGTAGCCGGCTGGGCATGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	11											68	66	67					11																	58978843		1870	4107	5977	58735419	SO:0001583	missense	219972			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1496C>G	11.37:g.58978843G>C	ENSP00000354335:p.Ala499Gly		58735419	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	4.395	0.072908	0.08436	.	.	ENSG00000197629	ENST00000361050	T	0.24538	1.85	5.84	4.93	0.64822	.	0.267717	0.36134	N	0.002770	T	0.23965	0.0580	M	0.62723	1.935	0.09310	N	1	P	0.39665	0.682	B	0.30401	0.115	T	0.22243	-1.0222	10	0.49607	T	0.09	-10.3497	12.1306	0.53940	0.0799:0.0:0.9201:0.0	.	499	Q2M385	MPEG1_HUMAN	G	499	ENSP00000354335:A499G	ENSP00000354335:A499G	A	-	2	0	MPEG1	58735419	0.991000	0.36638	0.023000	0.16930	0.017000	0.09413	4.261000	0.58841	1.496000	0.48567	0.655000	0.94253	GCC		0.512	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		C	58978843	G	C	58978843	3	2	257	1	0	0	0	0	1	0	0	0	9723	1203	42	3	658	3	MPEG1	11	58978843	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09		58978843	76027673	37	14181											
PICALM	8301	genome.wustl.edu	37	11	85685795	85685795	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr11:85685795C>T	ENST00000393346.3	-	19	2048	c.1900G>A	c.(1900-1902)Gtc>Atc	p.V634I	PICALM_ENST00000356360.5_Missense_Mutation_p.V614I|PICALM_ENST00000532317.1_Missense_Mutation_p.V592I|PICALM_ENST00000526033.1_Missense_Mutation_p.V627I|PICALM_ENST00000528398.1_Missense_Mutation_p.V533I			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	634					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)	p.V634I(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GGTCTCATGACAGGCTGGCTG	0.408			T	"MLLT10, MLL"	"TALL, AML, "																																		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	1	Substitution - Missense(1)	ovary(1)	11											243	203	217					11																	85685795		2203	4299	6502	85363443	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1900G>A	11.37:g.85685795C>T	ENSP00000377015:p.Val634Ile		85363443	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.998005|3.998005	0.74818|0.74818	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000532603;ENST00000526961|ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.|T;T;T;T;T	.|0.55413	.|0.52;0.52;0.52;0.52;0.52	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.196377	.|0.43416	.|D	.|0.000577	T|T	0.68559|0.68559	0.3014|0.3014	L|L	0.50333|0.50333	1.59|1.59	0.53005|0.53005	D|D	0.99996|0.99996	.|B;D;B;B;P;B	.|0.53312	.|0.435;0.959;0.223;0.177;0.547;0.063	.|B;D;B;B;B;B	.|0.67103	.|0.152;0.949;0.131;0.185;0.278;0.046	T|T	0.61879|0.61879	-0.6972|-0.6972	5|9	.|.	.|.	.|.	-7.3254|-7.3254	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|533;219;642;627;634;592	.|E9PN05;B4DLM1;A8MX97;F8VPG7;Q13492;Q13492-3	.|.;.;.;.;PICAL_HUMAN;.	Y|I	289;115;245|592;627;634;634;533;614	.|ENSP00000436958:V592I;ENSP00000433846:V627I;ENSP00000377015:V634I;ENSP00000434884:V533I;ENSP00000348718:V614I	.|.	C|V	-|-	2|1	0|0	PICALM|PICALM	85363443|85363443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.280000|5.280000	0.65603|0.65603	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.408	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		T	85685795	C	T	85685795	3	4	257	1	0	0	0	0	1	0	0	0	11880	478	17	2	66	2	PICALM	11	85685795	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	26706952	85685795	49320721	38	14182											
SCN3B	55800	genome.wustl.edu	37	11	123513205	123513205	+	Missense_Mutation	SNP	G	G	A	rs371558196		TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr11:123513205G>A	ENST00000392770.2	-	3	1196	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	SCN3B_ENST00000299333.3_Missense_Mutation_p.R132W|SCN3B_ENST00000530277.1_Missense_Mutation_p.R132W	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	132	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R132W(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAAAGGGCCGATGCGCCTCA	0.597																																																1	Substitution - Missense(1)	ovary(1)	11						G	TRP/ARG,TRP/ARG	0,4404		0,0,2202	94	85	88		394,394	5.1	1	11		88	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SCN3B	NM_001040151.1,NM_018400.3	101,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	132/216,132/216	123513205	1,13001	2202	4299	6501	123018415	SO:0001583	missense	55800			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.394C>T	11.37:g.123513205G>A	ENSP00000376523:p.Arg132Trp		123018415	A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512158	0.85389	0.0	1.16E-4	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	6.03	5.11	0.69529	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.213280	0.47852	D	0.000204	T	0.72914	0.3520	L	0.44542	1.39	0.49915	D	0.999838	D	0.89917	1.0	D	0.68483	0.958	T	0.75844	-0.3174	10	0.66056	D	0.02	-12.554	16.918	0.86156	0.0:0.0:0.8713:0.1287	.	132	Q9NY72	SCN3B_HUMAN	W	132	ENSP00000376523:R132W;ENSP00000299333:R132W;ENSP00000432785:R132W;ENSP00000435554:R132W	ENSP00000299333:R132W	R	-	1	2	SCN3B	123018415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.713000	0.47194	1.526000	0.49068	0.655000	0.94253	CGG		0.597	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		A	123513205	G	A	123513205	3	1	257	1	0	0	0	0	1	0	0	0	13922	1057	37	1	265	1	SCN3B	11	123513205	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09	37827410	123513205	11493311	39	14183											
SLCO1B1	10599	genome.wustl.edu	37	12	21329829	21329829	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr12:21329829A>T	ENST00000256958.2	+	5	575	c.479A>T	c.(478-480)aAa>aTa	p.K160I		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	160					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.K160I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ATAGTGGGAAAAGGTAAGAAT	0.254																																																1	Substitution - Missense(1)	ovary(1)	12											62	64	63					12																	21329829		2203	4282	6485	21221096	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.479A>T	12.37:g.21329829A>T	ENSP00000256958:p.Lys160Ile		21221096	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487099	0.44249	.	.	ENSG00000134538	ENST00000256958	T	0.40225	1.04	3.52	2.24	0.28232	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.013910	0.07850	N	0.964410	T	0.43765	0.1262	L	0.35288	1.05	0.27488	N	0.952383	P	0.48230	0.907	P	0.54431	0.752	T	0.35151	-0.9800	10	0.52906	T	0.07	.	6.2733	0.20966	0.7417:0.2583:0.0:0.0	.	160	Q9Y6L6	SO1B1_HUMAN	I	160	ENSP00000256958:K160I	ENSP00000256958:K160I	K	+	2	0	SLCO1B1	21221096	0.967000	0.33354	0.924000	0.36721	0.372000	0.29890	2.321000	0.43805	1.591000	0.50007	0.254000	0.18369	AAA		0.254	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		T	21329829	A	T	21329829	3	4	257	1	0	0	0	0	1	0	0	0	14726	14	1	5	493	5	SLCO1B1	12	21329829	Missense_Mutation	SNP	A	TCGA-24-1616-01A-01W-0553-09		21329829	112522066	40	14184											
SRGAP1	57522	genome.wustl.edu	37	12	64502796	64502796	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr12:64502796A>G	ENST00000355086.3	+	16	2422	c.1898A>G	c.(1897-1899)tAc>tGc	p.Y633C	SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y610C|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y570C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	633	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.Y633C(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTGATGAGGTACCTCTTTGCC	0.453																																																1	Substitution - Missense(1)	ovary(1)	12											135	119	124					12																	64502796		2203	4300	6503	62789063	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1898A>G	12.37:g.64502796A>G	ENSP00000347198:p.Tyr633Cys		62789063	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421559	0.83559	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.21734	1.99;1.99;1.99	5.16	5.16	0.70880	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.32386	U	0.006173	T	0.57725	0.2073	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.70378	-0.4888	9	.	.	.	.	15.7658	0.78126	1.0:0.0:0.0:0.0	.	633;570	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	C	633;610;570	ENSP00000347198:Y633C;ENSP00000350480:Y610C;ENSP00000437948:Y570C	.	Y	+	2	0	SRGAP1	62789063	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.175000	0.94831	2.274000	0.75844	0.524000	0.50904	TAC		0.453	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			G	64502796	A	G	64502796	3	3	257	1	0	0	0	0	1	0	0	0	15147	391	14	4	1960	4	SRGAP1	12	64502796	Missense_Mutation	SNP	A	TCGA-24-1616-01A-01W-0553-09	43172967	64502796	69349099	41	14185											
GNPTAB	79158	genome.wustl.edu	37	12	102153834	102153834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr12:102153834G>A	ENST00000299314.7	-	16	3485	c.3223C>T	c.(3223-3225)Cag>Tag	p.Q1075*		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1075					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.Q1075*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TAGGATTCCTGAGTTGGTGGA	0.368																																																1	Substitution - Nonsense(1)	ovary(1)	12											204	187	192					12																	102153834		2203	4300	6503	100677965	SO:0001587	stop_gained	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3223C>T	12.37:g.102153834G>A	ENSP00000299314:p.Gln1075*		100677965	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Nonsense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.563092|3.563092	0.65538|0.65538	.|.	.|.	ENSG00000111670|ENSG00000111670	ENST00000299314|ENST00000550718	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.059158|.	0.64402|.	D|.	0.000001|.	.|T	.|0.76615	.|0.4012	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74417	.|-0.3672	.|4	0.30854|.	T|.	0.27|.	-18.1127|-18.1127	19.8677|19.8677	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1075|12	.|.	ENSP00000299314:Q1075X|.	Q|S	-|-	1|2	0|0	GNPTAB|GNPTAB	100677965|100677965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.091000|0.091000	0.18340|0.18340	9.444000|9.444000	0.97578|0.97578	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.368	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			A	102153834	G	A	102153834	4	1	257	1	0	0	0	0	0	1	0	0	6545	1299	45	2	571	2	GNPTAB	12	102153834	Nonsense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09	37651038	102153834	31698061	42	14186											
STAB2	55576	genome.wustl.edu	37	12	104131483	104131483	+	Silent	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr12:104131483C>T	ENST00000388887.2	+	53	5826	c.5622C>T	c.(5620-5622)gcC>gcT	p.A1874A		NM_017564.9	NP_060034.9			stabilin 2									p.A1874A(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGGGTGTGGCCTACGGCATTG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	12											103	100	101					12																	104131483		2203	4300	6503	102655613	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5622C>T	12.37:g.104131483C>T			102655613		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104131483	C	T	104131483	2	4	257	1	0	0	0	0	0	0	0	1	15240	668	24	2		2	STAB2	12	104131483	Silent	SNP	C	TCGA-24-1616-01A-01W-0553-09	1977649	104131483	29720412	43	14187											
ATP8A2	51761	genome.wustl.edu	37	13	26411376	26411376	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr13:26411376C>T	ENST00000381655.2	+	29	2972	c.2830C>T	c.(2830-2832)Ccc>Tcc	p.P944S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.P879S|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	904					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P944S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTCAGGTTTCCCCAGCTCTA	0.493																																																1	Substitution - Missense(1)	ovary(1)	13											120	114	116					13																	26411376		1930	4130	6060	25309376	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2830C>T	13.37:g.26411376C>T	ENSP00000371070:p.Pro944Ser		25309376	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161683	0.94727	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.99070	-5.39;-5.39	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.96662	3.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.991	D	0.97938	1.0324	10	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	879;724;904	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	S	944;879;724	ENSP00000371070:P944S;ENSP00000255283:P879S	ENSP00000255283:P879S	P	+	1	0	ATP8A2	25309376	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.818000	0.86416	2.769000	0.95229	0.655000	0.94253	CCC		0.493	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		T	26411376	C	T	26411376	3	4	257	1	0	0	0	0	1	0	0	0	1193	855	30	2	2944	2	ATP8A2	13	26411376	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09		26411376	88758502	44	14188											
CCNA1	8900	genome.wustl.edu	37	13	37016759	37016759	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr13:37016759G>A	ENST00000255465.4	+	9	1619	c.1355G>A	c.(1354-1356)tGt>tAt	p.C452Y	CCNA1_ENST00000449823.1_Missense_Mutation_p.C408Y|CCNA1_ENST00000418263.1_Missense_Mutation_p.C451Y|CCNA1_ENST00000440264.1_Missense_Mutation_p.C408Y			P78396	CCNA1_HUMAN	cyclin A1	452					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.C452Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGGTACCTGTGTGTGTCCCTC	0.428																																																1	Substitution - Missense(1)	ovary(1)	13											152	131	138					13																	37016759		2203	4300	6503	35914759	SO:0001583	missense	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1355G>A	13.37:g.37016759G>A	ENSP00000255465:p.Cys452Tyr		35914759	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	0.921	-0.715950	0.03206	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.29	4.03	0.46877	Cyclin, C-terminal (1);Cyclin-like (2);	0.564435	0.21027	N	0.081416	T	0.15955	0.0384	L	0.37750	1.13	0.21499	N	0.999669	B;B	0.19706	0.038;0.022	B;B	0.32583	0.01;0.148	T	0.37220	-0.9715	10	0.02654	T	1	.	9.868	0.41157	0.9209:0.0:0.0791:0.0	.	451;452	P78396-2;P78396	.;CCNA1_HUMAN	Y	408;408;451;452	ENSP00000400666:C408Y;ENSP00000409873:C408Y;ENSP00000396479:C451Y;ENSP00000255465:C452Y	ENSP00000255465:C452Y	C	+	2	0	CCNA1	35914759	0.986000	0.35501	0.924000	0.36721	0.877000	0.50540	2.814000	0.48010	0.947000	0.37659	-0.290000	0.09829	TGT		0.428	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		A	37016759	G	A	37016759	3	1	257	1	0	0	0	0	1	0	0	0	2909	1377	48	2	1389	2	CCNA1	13	37016759	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09	10605383	37016759	78153119	45	14189											
OR4K1	79544	genome.wustl.edu	37	14	20403901	20403901	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr14:20403901T>C	ENST00000285600.4	+	1	135	c.76T>C	c.(76-78)Ttc>Ctc	p.F26L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F26L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACTTCAACTTTTCTTTTTTGC	0.363																																																1	Substitution - Missense(1)	ovary(1)	14											336	375	362					14																	20403901		2203	4300	6503	19473741	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.76T>C	14.37:g.20403901T>C	ENSP00000285600:p.Phe26Leu		19473741	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	5.635	0.301781	0.10678	.	.	ENSG00000155249	ENST00000285600	T	0.00048	8.82	4.77	3.58	0.41010	.	0.336136	0.25909	N	0.027502	T	0.00073	0.0002	N	0.03268	-0.37	0.23798	N	0.996817	B	0.12630	0.006	B	0.14578	0.011	T	0.20075	-1.0286	10	0.05721	T	0.95	.	4.6317	0.12506	0.0:0.0989:0.1973:0.7038	.	26	Q8NGD4	OR4K1_HUMAN	L	26	ENSP00000285600:F26L	ENSP00000285600:F26L	F	+	1	0	OR4K1	19473741	0.000000	0.05858	0.964000	0.40570	0.388000	0.30384	-0.140000	0.10342	0.808000	0.34231	0.459000	0.35465	TTC		0.363	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			C	20403901	T	C	20403901	3	2	257	1	0	0	0	0	1	0	0	0	11067	1841	64	4	78	4	OR4K1	14	20403901	Missense_Mutation	SNP	T	TCGA-24-1616-01A-01W-0553-09		20403901	86945639	46	14190											
DHRS4L2	317749	genome.wustl.edu	37	14	24459529	24459529	+	Missense_Mutation	SNP	T	T	A	rs563512511		TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr14:24459529T>A	ENST00000335125.6	+	2	393	c.267T>A	c.(265-267)caT>caA	p.H89Q	DHRS4L2_ENST00000382755.4_Missense_Mutation_p.H87Q|DHRS4L2_ENST00000543805.1_De_novo_Start_InFrame|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.H89Q|DHRS4L2_ENST00000534993.1_De_novo_Start_InFrame|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.H89Q|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.H89Q|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.H89Q	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	87						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.H89Q(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTGTGTGCCATGTGGGGAAGG	0.677																																																1	Substitution - Missense(1)	ovary(1)	14											33	37	36					14																	24459529		2200	4298	6498	23529369	SO:0001583	missense	317749				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.267T>A	14.37:g.24459529T>A	ENSP00000334801:p.His89Gln		23529369	Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890018	0.33348	.	.	ENSG00000187630	ENST00000348916;ENST00000397071;ENST00000335125;ENST00000537912;ENST00000545240;ENST00000382755	D;T;T;T;T	0.87179	-2.22;0.74;0.74;2.0;2.0	3.5	-1.49	0.08718	NAD(P)-binding domain (1);	0.051427	0.85682	D	0.000000	D	0.89322	0.6682	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79784	0.947;0.993	D	0.86236	0.1640	10	0.72032	D	0.01	.	8.5619	0.33516	0.0:0.4073:0.0:0.5927	.	89;87	F6TD35;Q6PKH6	.;DR4L2_HUMAN	Q	61;89;89;89;89;87	ENSP00000380261:H89Q;ENSP00000334801:H89Q;ENSP00000439942:H89Q;ENSP00000437883:H89Q;ENSP00000372203:H87Q	ENSP00000334801:H89Q	H	+	3	2	DHRS4L2	23529369	0.002000	0.14202	0.997000	0.53966	0.142000	0.21351	-1.911000	0.01583	-0.301000	0.08882	0.338000	0.21704	CAT		0.677	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			A	24459529	T	A	24459529	3	1	257	1	0	0	0	0	1	0	0	0	4494	1461	51	5	273	5	DHRS4L2	14	24459529	Missense_Mutation	SNP	T	TCGA-24-1616-01A-01W-0553-09	4055628	24459529	82890011	47	14191											
KIAA1409	57578	genome.wustl.edu	37	14	94120313	94120313	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr14:94120313C>T	ENST00000393151.2	+	38	6341	c.6341C>T	c.(6340-6342)tCg>tTg	p.S2114L	UNC79_ENST00000256339.4_Missense_Mutation_p.S1937L|UNC79_ENST00000555664.1_Missense_Mutation_p.S2075L|UNC79_ENST00000553484.1_Missense_Mutation_p.S2136L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2114					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1937L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCTTAGCCTCGTCTCTGATG	0.507																																																1	Substitution - Missense(1)	ovary(1)	14											164	151	156					14																	94120313		2203	4300	6503	93190066	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6341C>T	14.37:g.94120313C>T	ENSP00000376858:p.Ser2114Leu		93190066	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	10.52	1.374600	0.24857	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.43	5.43	0.79202	.	0.227351	0.45867	D	0.000334	T	0.18964	0.0455	N	0.24115	0.695	0.25783	N	0.984706	B	0.06786	0.001	B	0.08055	0.003	T	0.10268	-1.0637	10	0.39692	T	0.17	-9.64	14.108	0.65104	0.1504:0.8496:0.0:0.0	.	2136	C9JQL1	.	L	1937;2075;2136;2114;2136	ENSP00000256339:S1937L;ENSP00000450868:S2075L;ENSP00000451360:S2136L;ENSP00000376858:S2114L	ENSP00000256339:S1937L	S	+	2	0	KIAA1409	93190066	0.969000	0.33509	0.943000	0.38184	0.907000	0.53573	2.392000	0.44433	2.537000	0.85549	0.655000	0.94253	TCG		0.507	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94120313	C	T	94120313	3	4	257	1	0	0	0	0	1	0	0	0	8230	893	31	1	5948	1	KIAA1409	14	94120313	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	69660784	94120313	13229227	48	14192											
TCL1B	9623	genome.wustl.edu	37	14	96157186	96157186	+	Silent	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr14:96157186C>T	ENST00000340722.7	+	2	327	c.276C>T	c.(274-276)ccC>ccT	p.P92P	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	92								p.P92P(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AGCTCTACCCCGGGAGGAAGT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	14											66	69	68					14																	96157186		2203	4300	6503	95226939	SO:0001819	synonymous_variant	9623			AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.276C>T	14.37:g.96157186C>T			95226939	A6NEK7|Q6IAR7|Q9UBQ4	Silent	SNP	ENST00000340722.7	37	CCDS32151.1																																																																																				0.607	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			T	96157186	C	T	96157186	2	4	257	1	0	0	0	0	0	0	0	1	15705	639	23	1		1	TCL1B	14	96157186	Silent	SNP	C	TCGA-24-1616-01A-01W-0553-09	2036873	96157186	11192354	49	14193											
IVD	3712	genome.wustl.edu	37	15	40699846	40699846	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr15:40699846A>G	ENST00000249760.2	+	2	497	c.154A>G	c.(154-156)Acc>Gcc	p.T52A	IVD_ENST00000479013.2_Intron|IVD_ENST00000487418.2_Missense_Mutation_p.T55A|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	52					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)	p.T52A(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GCTTCGTCAGACCATGGCTAA	0.537																																					GBM(31;293 617 7486 32527 34655)											1	Substitution - Missense(1)	ovary(1)	15											140	128	132					15																	40699846		2203	4300	6503	38487138	SO:0001583	missense	3712			AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"isovaleryl Coenzyme A dehydrogenase", "isovaleryl CoA dehydrogenase"			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.154A>G	15.37:g.40699846A>G	ENSP00000249760:p.Thr52Ala		38487138	B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37		.	.	.	.	.	.	.	.	.	.	A	10.87	1.472625	0.26423	.	.	ENSG00000128928	ENST00000249760;ENST00000487418	D;D	0.99706	-6.47;-6.47	5.27	4.16	0.48862	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.049858	0.85682	D	0.000000	D	0.97654	0.9231	N	0.17345	0.48	0.58432	D	0.999994	B	0.06786	0.001	B	0.12156	0.007	D	0.97607	1.0127	10	0.13470	T	0.59	.	9.741	0.40418	0.9225:0.0:0.0775:0.0	.	52	P26440	IVD_HUMAN	A	52;55	ENSP00000249760:T52A;ENSP00000418397:T55A	ENSP00000249760:T52A	T	+	1	0	IVD	38487138	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	4.203000	0.58453	1.028000	0.39785	-0.250000	0.11733	ACC		0.537	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				G	40699846	A	G	40699846	3	3	257	1	0	0	0	0	1	0	0	0	7928	275	10	4	169	4	IVD	15	40699846	Missense_Mutation	SNP	A	TCGA-24-1616-01A-01W-0553-09		40699846	61831546	50	14194											
CDH8	1006	genome.wustl.edu	37	16	61687587	61687587	+	Silent	SNP	G	G	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr16:61687587G>A	ENST00000577390.1	-	12	3279	c.2325C>T	c.(2323-2325)taC>taT	p.Y775Y	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	775					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.Y775Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTCACTGAGGTAGTCAAAAT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	16											58	60	59					16																	61687587		2203	4300	6503	60245088	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2325C>T	16.37:g.61687587G>A			60245088	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.483	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		A	61687587	G	A	61687587	2	1	257	1	0	0	0	0	0	0	0	1	3116	1256	44	2		2	CDH8	16	61687587	Silent	SNP	G	TCGA-24-1616-01A-01W-0553-09		61687587	28667166	51	14195											
TP53	7157	genome.wustl.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	T	T	C	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	0.572		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"	94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	17	GRCh37	CM004907	TP53	M							126	100	109					17																	7577574		2203	4300	6503	7518299	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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys		7518299	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	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577574	T	C	7577574	3	2	257	1	0	0	0	0	1	0	0	0	16381	1638	57	4	583	4	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-24-1616-01A-01W-0553-09		7577574	73617636	52	14196											
PIRT	644139	genome.wustl.edu	37	17	10728954	10728954	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr17:10728954C>T	ENST00000580256.2	-	2	647	c.9G>A	c.(7-9)atG>atA	p.M3I		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	3						integral component of membrane (GO:0016021)		p.M3I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GGAGAGTCTCCATCGTCATGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	17											21	20	20					17																	10728954		1932	4098	6030	10669679	SO:0001583	missense	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"phosphoinositide-interacting regulator of TRPV1"	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.9G>A	17.37:g.10728954C>T	ENSP00000462046:p.Met3Ile		10669679	B7Z648	Missense_Mutation	SNP	ENST00000580256.2	37	CCDS45614.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237556	0.58886	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.33	4.36	0.52297	.	.	.	.	.	T	0.29749	0.0743	L	0.27053	0.805	0.30200	N	0.798665	B	0.31817	0.341	B	0.28011	0.085	T	0.31280	-0.9949	8	0.87932	D	0	-6.7199	9.7712	0.40591	0.0:0.9079:0.0:0.0921	.	3	P0C851	PIRT_HUMAN	I	3	.	ENSP00000408936:M3I	M	-	3	0	PIRT	10669679	1.000000	0.71417	0.993000	0.49108	0.373000	0.29922	3.659000	0.54489	1.486000	0.48398	0.561000	0.74099	ATG		0.562	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387		T	10728954	C	T	10728954	3	4	257	1	0	0	0	0	1	0	0	0	11945	594	21	2	408	2	PIRT	17	10728954	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	3151380	10728954	70466256	53	14197											
DSC3	1825	genome.wustl.edu	37	18	28605882	28605882	+	Splice_Site	SNP	C	C	A			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr18:28605882C>A	ENST00000360428.4	-	5	555		c.e5-1		DSC3_ENST00000434452.1_Splice_Site	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CAGATTCAACCTAAAAGTAGA	0.259																																																1	Unknown(1)	ovary(1)	18											34	35	35					18																	28605882		2203	4298	6501	26859880	SO:0001630	splice_region_variant	1825			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.475-1G>T	18.37:g.28605882C>A			26859880	A6NN35|Q14200|Q9HAZ9	Splice_Site	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686420	0.68157	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4558	0.87607	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSC3	26859880	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.827000	0.69300	2.706000	0.92434	0.655000	0.94253	.		0.259	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	Intron	A	28605882	C	A	28605882	5	1	257	1	0	0	0	0	0	0	1	0	4767	695	24	3	2295	3	DSC3	18	28605882	Splice_Site	SNP	C	TCGA-24-1616-01A-01W-0553-09		28605882	49471366	54	14198											
PPP2R1A	5518	genome.wustl.edu	37	19	52716327	52716327	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chr19:52716327G>T	ENST00000322088.6	+	6	829	c.771G>T	c.(769-771)tgG>tgT	p.W257C	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.W202C|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.W78C	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	257	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.W257C(4)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ACAAGTCCTGGCGCGTCCGCT	0.612			Mis		clear cell ovarian carcinoma																																		Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	4	Substitution - Missense(4)	ovary(2)|endometrium(2)	19											44	40	41					19																	52716327		2203	4300	6503	57408139	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.771G>T	19.37:g.52716327G>T	ENSP00000324804:p.Trp257Cys		57408139	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043809	0.75732	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06218	3.33;3.33	4.48	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.56097	D	0.000037	T	0.33059	0.0850	H	0.94658	3.565	0.80722	D	1	D;D;D	0.76494	0.999;0.987;0.987	D;P;P	0.64776	0.929;0.545;0.545	T	0.47711	-0.9096	10	0.72032	D	0.01	-14.5139	15.0762	0.72080	0.0:0.0:1.0:0.0	.	202;257;257	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	C	247;177;257;202	ENSP00000324804:W257C;ENSP00000415067:W202C	ENSP00000324804:W257C	W	+	3	0	PPP2R1A	57408139	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.389000	0.90172	2.490000	0.84030	0.655000	0.94253	TGG		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		T	52716327	G	T	52716327	3	4	257	1	0	0	0	0	1	0	0	0	12385	1212	42	3	793	3	PPP2R1A	19	52716327	Missense_Mutation	SNP	G	TCGA-24-1616-01A-01W-0553-09		52716327	6412656	55	14199											
SYN1	6853	genome.wustl.edu	37	X	47435601	47435601	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chrX:47435601T>C	ENST00000295987.7	-	9	1211	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	SYN1_ENST00000340666.4_Missense_Mutation_p.I363V	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	363	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.I363V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CCCCCAAAAATCTCTGAGCAC	0.577																																																1	Substitution - Missense(1)	ovary(1)	X											120	66	85					X																	47435601		2202	4300	6502	47320545	SO:0001583	missense	6853				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.1087A>G	X.37:g.47435601T>C	ENSP00000295987:p.Ile363Val		47320545	B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	t	4.674	0.125360	0.08931	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.35421	1.76;1.31	4.66	3.49	0.39957	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.075411	0.49916	D	0.000126	T	0.25938	0.0632	N	0.25380	0.74	0.44352	D	0.997249	B;B	0.25486	0.127;0.06	B;B	0.31751	0.135;0.047	T	0.05241	-1.0897	10	0.42905	T	0.14	-6.7775	7.6812	0.28515	0.0:0.1042:0.0:0.8958	.	363;363	P17600;P17600-2	SYN1_HUMAN;.	V	363	ENSP00000295987:I363V;ENSP00000343206:I363V	ENSP00000295987:I363V	I	-	1	0	SYN1	47320545	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	3.034000	0.49751	0.491000	0.27793	-0.449000	0.05564	ATT		0.577	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		C	47435601	T	C	47435601	3	2	257	1	0	0	0	0	1	0	0	0	15440	1435	50	4	1050	4	SYN1	23	47435601	Missense_Mutation	SNP	T	TCGA-24-1616-01A-01W-0553-09		47435601	107834959	56	14200											
TIMM17B	10245	genome.wustl.edu	37	X	48751255	48751255	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chrX:48751255C>G	ENST00000376582.3	-	6	506	c.358G>C	c.(358-360)Ggc>Cgc	p.G120R	TIMM17B_ENST00000495490.2_Missense_Mutation_p.G140R|TIMM17B_ENST00000396779.3_Missense_Mutation_p.G170R|TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000465150.2_Missense_Mutation_p.G170R	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	120					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.G120R(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						AACAGGATGCCCCCCATCATT	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											41	33	35					X																	48751255		2203	4300	6503	48636199	SO:0001583	missense	10245			AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.358G>C	X.37:g.48751255C>G	ENSP00000365766:p.Gly120Arg		48636199	A8K2E2|J3KPV3|Q9UJV0	Missense_Mutation	SNP	ENST00000376582.3	37	CCDS14308.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.715716	0.89112	.	.	ENSG00000126768	ENST00000376582;ENST00000396779	T;T	0.33438	1.41;1.41	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.70596	0.3242	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82806	-0.0275	10	0.87932	D	0	-0.2579	16.4133	0.83726	0.0:1.0:0.0:0.0	.	120	O60830	TI17B_HUMAN	R	120;170	ENSP00000365766:G120R;ENSP00000379999:G170R	ENSP00000365766:G120R	G	-	1	0	TIMM17B	48636199	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.755000	0.68750	2.129000	0.65627	0.600000	0.82982	GGC		0.617	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834		G	48751255	C	G	48751255	3	3	257	1	0	0	0	0	1	0	0	0	15909	623	22	3	168	3	TIMM17B	23	48751255	Missense_Mutation	SNP	C	TCGA-24-1616-01A-01W-0553-09	1315654	48751255	106519305	57	14201											
ACRC	93953	genome.wustl.edu	37	X	70823745	70823745	+	Silent	SNP	C	C	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chrX:70823745C>T	ENST00000373695.1	+	7	1155	c.618C>T	c.(616-618)gaC>gaT	p.D206D	ACRC_ENST00000373696.3_Silent_p.D206D			Q96QF7	ACRC_HUMAN	acidic repeat containing	206	Asp/Ser-rich.					nucleus (GO:0005634)		p.D206D(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ATTCATCCGACGACAACAGTG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	X											326	263	285					X																	70823745		2203	4300	6503	70740470	SO:0001819	synonymous_variant	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.618C>T	X.37:g.70823745C>T			70740470	B9EG62	Silent	SNP	ENST00000373695.1	37	CCDS35326.1																																																																																				0.502	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			T	70823745	C	T	70823745	2	4	257	1	0	0	0	0	0	0	0	1	171	535	19	1		1	ACRC	23	70823745	Silent	SNP	C	TCGA-24-1616-01A-01W-0553-09	22072490	70823745	84446815	58	14202											
DIAPH2	1730	genome.wustl.edu	37	X	96185750	96185750	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1616-01A-01W-0553-09	TCGA-24-1616-10A-01W-0553-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	c464b2f6-9cfe-463a-b5e3-9a76cd4480c5	502d962b-e71b-4b9d-a85f-4513c720ee09	g.chrX:96185750A>T	ENST00000324765.8	+	10	1344	c.997A>T	c.(997-999)Ata>Tta	p.I333L	DIAPH2_ENST00000355827.4_Missense_Mutation_p.I333L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.I329L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.I333L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.I333L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	333	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.I333L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CATGCAGTTTATAAATGCCCT	0.308																																																1	Substitution - Missense(1)	ovary(1)	X											94	85	88					X																	96185750		2203	4299	6502	96072406	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.997A>T	X.37:g.96185750A>T	ENSP00000321348:p.Ile333Leu		96072406	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753267	0.69648	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79	5.07	5.07	0.68467	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.064020	0.56097	D	0.000022	D	0.94879	0.8345	M	0.77486	2.375	0.51482	D	0.999925	D;P;P	0.67145	0.996;0.929;0.823	D;P;D	0.77004	0.989;0.834;0.943	D	0.95443	0.8527	10	0.87932	D	0	.	14.2103	0.65759	1.0:0.0:0.0:0.0	.	333;333;340	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	L	333;329;333;333;333;340	ENSP00000362152:I333L;ENSP00000362145:I329L;ENSP00000348082:I333L;ENSP00000362140:I333L;ENSP00000321348:I333L	ENSP00000321348:I333L	I	+	1	0	DIAPH2	96072406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.637000	0.91014	1.802000	0.52723	0.481000	0.45027	ATA		0.308	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		T	96185750	A	T	96185750	3	4	257	1	0	0	0	0	1	0	0	0	4519	449	16	5	1035	5	DIAPH2	23	96185750	Missense_Mutation	SNP	A	TCGA-24-1616-01A-01W-0553-09	25362005	96185750	59084810	59	14203											
CSMD2	114784	genome.wustl.edu	37	1	34076711	34076711	+	Silent	SNP	G	G	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:34076711G>T	ENST00000373380.1	-	20	3112	c.2892C>A	c.(2890-2892)tcC>tcA	p.S964S	CSMD2_ENST00000373381.4_Silent_p.S2091S|CSMD2_ENST00000373377.1_Silent_p.S190S|CSMD2_ENST00000373388.2_Silent_p.S190S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2051	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGTCTCGTGGGACGTGGAGA	0.552																																																0			1											140	118	125					1																	34076711		2203	4300	6503	33849298	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2892C>A	1.37:g.34076711G>T			33849298	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37																																																																																					0.552	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		T	34076711	G	T	34076711	2	4	258	1	0	0	0	0	0	0	0	1	3945	1219	43	3		3	CSMD2	1	34076711	Silent	SNP	G	TCGA-24-1842-01A-01W-0639-09		34076711	215173910	1	14204											
KPRP	448834	genome.wustl.edu	37	1	152733139	152733139	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:152733139C>T	ENST00000606109.1	+	1	1103	c.1075C>T	c.(1075-1077)Ccg>Tcg	p.P359S	KPRP_ENST00000368773.1_Missense_Mutation_p.P359S			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	359	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTGGCCCGCAGCCCTC	0.652																																																0			1											48	51	50					1																	152733139		2203	4300	6503	150999763	SO:0001583	missense	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1075C>T	1.37:g.152733139C>T	ENSP00000475216:p.Pro359Ser		150999763		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	5.445	0.267236	0.10294	.	.	ENSG00000203786	ENST00000368773	T	0.11604	2.76	5.3	3.32	0.38043	.	0.297053	0.24683	N	0.036460	T	0.02156	0.0067	N	0.17082	0.46	0.09310	N	1	P	0.35242	0.492	B	0.38562	0.276	T	0.44406	-0.9330	10	0.20046	T	0.44	-1.1701	7.3277	0.26566	0.1665:0.7419:0.0:0.0916	.	359	Q5T749	KPRP_HUMAN	S	359	ENSP00000357762:P359S	ENSP00000357762:P359S	P	+	1	0	KPRP	150999763	0.030000	0.19436	0.759000	0.31340	0.334000	0.28698	2.185000	0.42584	1.384000	0.46424	0.462000	0.41574	CCG		0.652	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		T	152733139	C	T	152733139	3	4	258	1	0	0	0	0	1	0	0	0	8436	623	22	2	1077	2	KPRP	1	152733139	Missense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09	118656428	152733139	96517482	2	14205											
DNM3	26052	genome.wustl.edu	37	1	171956927	171956927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:171956927C>T	ENST00000355305.5	+	3	524	c.367C>T	c.(367-369)Cga>Tga	p.R123*	DNM3_ENST00000367731.1_Nonsense_Mutation_p.R123*|DNM3_ENST00000520906.1_Nonsense_Mutation_p.R123*|DNM3_ENST00000358155.4_Nonsense_Mutation_p.R123*|DNM3_ENST00000367733.2_Nonsense_Mutation_p.R123*			Q9UQ16	DYN3_HUMAN	dynamin 3	123	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CATTAATTTACGAGTCTATTC	0.333																																																0			1											118	125	123					1																	171956927		1843	4088	5931	170223550	SO:0001587	stop_gained	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.367C>T	1.37:g.171956927C>T	ENSP00000347457:p.Arg123*		170223550	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Nonsense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	C	38	6.883000	0.97908	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	.	.	.	5.16	3.24	0.37175	.	0.069248	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5692	0.33558	0.4179:0.4429:0.1392:0.0	.	.	.	.	X	123;123;123;123;123;123;13	.	ENSP00000347457:R123X	R	+	1	2	DNM3	170223550	0.920000	0.31207	0.976000	0.42696	0.987000	0.75469	1.853000	0.39358	0.532000	0.28657	0.655000	0.94253	CGA		0.333	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		T	171956927	C	T	171956927	4	4	258	1	0	0	0	0	0	1	0	0	4673	528	19	1	377	1	DNM3	1	171956927	Nonsense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09	19223788	171956927	77293694	3	14206											
TNR	7143	genome.wustl.edu	37	1	175325554	175325554	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:175325554G>A	ENST00000367674.2	-	16	3727	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W	TNR_ENST00000263525.2_Missense_Mutation_p.R1007W			Q92752	TENR_HUMAN	tenascin R	1007	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R1007W(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAACAAGCCGAAATTCCTCA	0.473																																																2	Substitution - Missense(2)	large_intestine(1)|lung(1)	1											189	152	165					1																	175325554		2203	4300	6503	173592177	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3019C>T	1.37:g.175325554G>A	ENSP00000356646:p.Arg1007Trp		173592177	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542069	0.85917	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57752	0.38;0.38	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063421	0.64402	D	0.000004	T	0.54464	0.1860	L	0.29908	0.895	0.40611	D	0.981677	P	0.45902	0.868	P	0.49301	0.606	T	0.58148	-0.7687	10	0.66056	D	0.02	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	1007	Q92752	TENR_HUMAN	W	1007;1007;917	ENSP00000356646:R1007W;ENSP00000263525:R1007W	ENSP00000263525:R1007W	R	-	1	2	TNR	173592177	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.387000	0.79785	2.681000	0.91329	0.655000	0.94253	CGG		0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175325554	G	A	175325554	3	1	258	1	0	0	0	0	1	0	0	0	16338	1057	37	1	1089	1	TNR	1	175325554	Missense_Mutation	SNP	G	TCGA-24-1842-01A-01W-0639-09	3368627	175325554	73925067	4	14207											
OR2M3	127062	genome.wustl.edu	37	1	248366893	248366893	+	Missense_Mutation	SNP	C	C	T	rs376067703		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:248366893C>T	ENST00000456743.1	+	1	562	c.524C>T	c.(523-525)gCc>gTc	p.A175V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGGGAAATAGCCCACTTCTTC	0.423																																																0			1											226	218	220					1																	248366893		2203	4300	6503	246433516	SO:0001583	missense	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.524C>T	1.37:g.248366893C>T	ENSP00000389625:p.Ala175Val		246433516	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661122	0.29515	.	.	ENSG00000228198	ENST00000456743	T	0.00130	8.69	2.55	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.946348	0.08548	U	0.929409	T	0.00144	0.0004	L	0.31526	0.94	0.09310	N	1	B	0.30146	0.27	B	0.39971	0.315	T	0.09840	-1.0656	10	0.72032	D	0.01	.	5.6848	0.17797	0.5001:0.2248:0.2751:0.0	.	175	Q8NG83	OR2M3_HUMAN	V	175	ENSP00000389625:A175V	ENSP00000389625:A175V	A	+	2	0	OR2M3	246433516	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.677000	0.25262	-0.038000	0.13624	0.405000	0.27470	GCC		0.423	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		T	248366893	C	T	248366893	3	4	258	1	0	0	0	0	1	0	0	0	11011	739	26	2	526	2	OR2M3	1	248366893	Missense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09	73041339	248366893	883728	5	14208											
GOLGA4	2803	genome.wustl.edu	37	3	37367319	37367319	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr3:37367319A>C	ENST00000361924.2	+	14	4316	c.3942A>C	c.(3940-3942)gaA>gaC	p.E1314D	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1336D|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1314	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGATATTGAAAGTCTTGTAA	0.363																																																0			3											37	37	37					3																	37367319		2203	4299	6502	37342323	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3942A>C	3.37:g.37367319A>C	ENSP00000354486:p.Glu1314Asp		37342323	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064445	0.36470	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.29142	1.59;1.58;1.59	5.53	1.61	0.23674	.	0.204663	0.24552	N	0.037548	T	0.31040	0.0784	M	0.73598	2.24	0.30734	N	0.746896	B;B;B;P	0.46912	0.117;0.031;0.031;0.886	B;B;B;B	0.40165	0.063;0.027;0.027;0.321	T	0.34229	-0.9837	10	0.35671	T	0.21	.	10.6918	0.45875	0.6438:0.0:0.0:0.3562	.	1314;1314;1336;1314	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	D	1314;1336;1185	ENSP00000354486:E1314D;ENSP00000349305:E1336D;ENSP00000405842:E1185D	ENSP00000349305:E1336D	E	+	3	2	GOLGA4	37342323	0.995000	0.38212	0.572000	0.28498	0.440000	0.31957	0.770000	0.26618	0.032000	0.15435	-0.624000	0.04008	GAA		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		C	37367319	A	C	37367319	3	2	258	1	0	0	0	0	1	0	0	0	6555	11	1	5	4066	5	GOLGA4	3	37367319	Missense_Mutation	SNP	A	TCGA-24-1842-01A-01W-0639-09		37367319	160655111	6	14209											
CCDC54	84692	genome.wustl.edu	37	3	107096886	107096886	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr3:107096886C>T	ENST00000261058.1	+	1	699	c.452C>T	c.(451-453)aCg>aTg	p.T151M		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	151										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCCTGCTCCACGATACATTGT	0.403																																																0			3											65	57	60					3																	107096886		2203	4300	6503	108579576	SO:0001583	missense	84692			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.452C>T	3.37:g.107096886C>T	ENSP00000261058:p.Thr151Met		108579576	Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	3.389	-0.124627	0.06795	.	.	ENSG00000138483	ENST00000261058	T	0.47177	0.85	5.23	-2.2	0.06994	.	1.093570	0.06993	N	0.821954	T	0.29684	0.0741	N	0.22421	0.69	0.09310	N	1	P	0.36712	0.566	B	0.33890	0.172	T	0.25984	-1.0116	10	0.56958	D	0.05	0.3978	6.6577	0.22996	0.2577:0.3754:0.3669:0.0	.	151	Q8NEL0	CCD54_HUMAN	M	151	ENSP00000261058:T151M	ENSP00000261058:T151M	T	+	2	0	CCDC54	108579576	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.103000	0.10940	-0.305000	0.08831	-0.381000	0.06696	ACG		0.403	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		T	107096886	C	T	107096886	3	4	258	1	0	0	0	0	1	0	0	0	2824	536	19	1	454	1	CCDC54	3	107096886	Missense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09	69729567	107096886	90925544	7	14210											
ADD1	118	genome.wustl.edu	37	4	2930036	2930036	+	Missense_Mutation	SNP	C	C	A	rs371284874		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr4:2930036C>A	ENST00000398129.1	+	14	2020	c.2000C>A	c.(1999-2001)cCc>cAc	p.P667H	ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000264758.7_Missense_Mutation_p.P698H|ADD1_ENST00000446856.1_Missense_Mutation_p.P667H|ADD1_ENST00000513328.2_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	667					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCCCATAGACCCCCAAGCCCC	0.637																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0			4											62	77	72					4																	2930036		2203	4300	6503	2899834	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2000C>A	4.37:g.2930036C>A	ENSP00000381197:p.Pro667His		2899834	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.062|5.062	0.197034|0.197034	0.09599|0.09599	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398129|ENST00000514940	T;T;T|T	0.04917|0.11277	3.53;3.54;3.54|2.79	5.0|5.0	3.13|3.13	0.36017|0.36017	.|.	0.933189|0.933189	0.09010|0.09010	N|N	0.861705|0.861705	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.24963|.	0.07;0.115|.	B;B|.	0.34138|.	0.085;0.176|.	T|T	0.41142|0.41142	-0.9525|-0.9525	10|8	0.44086|0.14252	T|T	0.13|0.57	-2.1111|-2.1111	9.1229|9.1229	0.36797|0.36797	0.0:0.7484:0.0:0.2516|0.0:0.7484:0.0:0.2516	.|.	667;698|.	P35611;P35611-3|.	ADDA_HUMAN;.|.	H|T	698;667;667|404	ENSP00000264758:P698H;ENSP00000399828:P667H;ENSP00000381197:P667H|ENSP00000424143:P404T	ENSP00000264758:P698H|ENSP00000424143:P404T	P|P	+|+	2|1	0|0	ADD1|ADD1	2899834|2899834	0.019000|0.019000	0.18553|0.18553	0.016000|0.016000	0.15963|0.15963	0.035000|0.035000	0.12851|0.12851	1.950000|1.950000	0.40323|0.40323	1.132000|1.132000	0.42129|0.42129	-0.345000|-0.345000	0.07892|0.07892	CCC|CCC		0.637	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		A	2930036	C	A	2930036	3	1	258	1	0	0	0	0	1	0	0	0	304	623	22	3	2185	3	ADD1	4	2930036	Missense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09		2930036	188224240	8	14211											
FBXL5	26234	genome.wustl.edu	37	4	15627591	15627591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr4:15627591C>T	ENST00000341285.3	-	9	1258	c.1134G>A	c.(1132-1134)tgG>tgA	p.W378*	FBXL5_ENST00000382358.4_Nonsense_Mutation_p.W252*|FBXL5_ENST00000412094.2_Nonsense_Mutation_p.W361*	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	378					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCAACCAAGCCAAGACCAAC	0.368																																																0			4											22	23	22					4																	15627591		2192	4268	6460	15236689	SO:0001587	stop_gained	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1134G>A	4.37:g.15627591C>T	ENSP00000344866:p.Trp378*		15236689	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Nonsense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.605565|8.605565	0.98881|0.98881	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.178466	.|0.51477	.|D	.|0.000093	T|.	0.62877|.	0.2464|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68221|.	-0.5466|.	3|.	.|0.36615	.|T	.|0.2	-7.3254|-7.3254	12.3547|12.3547	0.55167|0.55167	0.0:0.9173:0.0:0.0827|0.0:0.9173:0.0:0.0827	.|.	.|.	.|.	.|.	T|X	299|378;361;252	.|.	.|ENSP00000344866:W378X	A|W	-|-	1|3	0|0	FBXL5|FBXL5	15236689|15236689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.972000|1.972000	0.40540|0.40540	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GCT|TGG		0.368	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			T	15627591	C	T	15627591	4	4	258	1	0	0	0	0	0	1	0	0	5722	740	26	2	953	2	FBXL5	4	15627591	Nonsense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09	12697555	15627591	175526685	9	14212											
SLC27A6	28965	genome.wustl.edu	37	5	128301902	128301902	+	Frame_Shift_Del	DEL	C	C	-	rs149230836	byFrequency	TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr5:128301902delC	ENST00000262462.4	+	1	1082	c.72delC	c.(70-72)ttcfs	p.F24fs	SLC27A6_ENST00000395266.1_Frame_Shift_Del_p.F24fs|SLC27A6_ENST00000506176.1_Frame_Shift_Del_p.F24fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	24					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AACTCCTGTTCCCTTACTTTT	0.507																																																0			5											95	93	94					5																	128301902		2203	4300	6503	128329801	SO:0001589	frameshift_variant	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.72delC	5.37:g.128301902delC	ENSP00000262462:p.Phe24fs		128329801	Q6IAM5|Q7Z6E6|Q86YF6	Frame_Shift_Del	DEL	ENST00000262462.4	37	CCDS4145.1																																																																																				0.507	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		-	128301902	C	-	128301902	7	5	258	1	0	1	0	1	0	0	0	0	14533	854	30	0	74	0	SLC27A6	5	128301902	Frame_Shift_Del	DEL	C	TCGA-24-1842-01A-01W-0639-09		128301902	52613358	10	14213											
MTERF	7978	genome.wustl.edu	37	7	91503499	91503499	+	Silent	SNP	G	G	C			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr7:91503499G>C	ENST00000351870.3	-	3	702	c.609C>G	c.(607-609)acC>acG	p.T203T	MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000419292.1_Silent_p.T183T|MTERF_ENST00000406735.2_Silent_p.T183T	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		203					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TATTGGAGAAGGTACGAGGGG	0.408																																																0			7											68	68	68					7																	91503499		2203	4300	6503	91341435	SO:0001819	synonymous_variant	7978																														ENST00000351870.3:c.609C>G	7.37:g.91503499G>C			91341435	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Silent	SNP	ENST00000351870.3	37	CCDS5621.1																																																																																				0.408	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			C	91503499	G	C	91503499	2	2	258	1	0	0	0	0	0	0	0	1	9918	987	35	3		3	MTERF	7	91503499	Silent	SNP	G	TCGA-24-1842-01A-01W-0639-09		91503499	67635164	11	14214											
CADPS2	93664	genome.wustl.edu	37	7	122033544	122033544	+	Missense_Mutation	SNP	C	C	T	rs368742944		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr7:122033544C>T	ENST00000449022.2	-	21	2858	c.2839G>A	c.(2839-2841)Gcc>Acc	p.A947T	CADPS2_ENST00000334010.7_Missense_Mutation_p.A945T|CADPS2_ENST00000412584.2_Missense_Mutation_p.A941T|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.A941T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	947	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATTGACTGGGCGATGGAAGAC	0.458													C|||	1	0.000199681	0	0	5008	,	,		19787	0.001		0	False		,,,				2504	0															0			7											149	141	144					7																	122033544		1954	4165	6119	121820780	SO:0001583	missense	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2839G>A	7.37:g.122033544C>T	ENSP00000398481:p.Ala947Thr		121820780	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.839646|4.839646	0.91117|0.91117	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.36878|.	1.23;1.23;1.23;1.23|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Munc13 homology 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76926|0.76926	0.4056|0.4056	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D;B|.	0.89917|.	1.0;1.0;1.0;0.265|.	D;D;D;B|.	0.79784|.	0.993;0.991;0.993;0.03|.	T|T	0.74697|0.74697	-0.3578|-0.3578	10|5	0.66056|.	D|.	0.02|.	-13.3657|-13.3657	20.0401|20.0401	0.97581|0.97581	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	951;941;947;941|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	T|H	120;941;945;952;908;941;947|589	ENSP00000325581:A941T;ENSP00000333940:A945T;ENSP00000400401:A941T;ENSP00000398481:A947T|.	ENSP00000325581:A941T|.	A|R	-|-	1|2	0|0	CADPS2|CADPS2	121820780|121820780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.009000|6.009000	0.70745|0.70745	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.458	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		T	122033544	C	T	122033544	3	4	258	1	0	0	0	0	1	0	0	0	2571	768	27	1	1110	1	CADPS2	7	122033544	Missense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09	30530045	122033544	37105119	12	14215											
MLL3	58508	genome.wustl.edu	37	7	151843821	151843821	+	Splice_Site	SNP	C	C	G			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr7:151843821C>G	ENST00000262189.6	-	53	14113		c.e53-1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCCCAGACACCTACACAGGGA	0.368																																																0			7											54	55	55					7																	151843821		2203	4300	6503	151474754	SO:0001630	splice_region_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13895-1G>C	7.37:g.151843821C>G			151474754	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063882	0.76187	.	.	ENSG00000055609	ENST00000360104;ENST00000262189;ENST00000355193;ENST00000424877	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6977	0.91607	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151474754	1.000000	0.71417	0.994000	0.49952	0.778000	0.44026	7.814000	0.86154	2.414000	0.81942	0.557000	0.71058	.		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	G	151843821	C	G	151843821	5	3	258	1	0	0	0	0	0	0	1	0	9622	695	24	3	869	3	MLL3	7	151843821	Splice_Site	SNP	C	TCGA-24-1842-01A-01W-0639-09	29810277	151843821	7294842	13	14216											
TAF1L	138474	genome.wustl.edu	37	9	32634324	32634324	+	Silent	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr9:32634324G>A	ENST00000242310.4	-	1	1343	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	418					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAGTTTTCGTCAGCCAGAA	0.443																																																0			9											262	245	251					9																	32634324		2203	4300	6503	32624324	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1254C>T	9.37:g.32634324G>A			32624324	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32634324	G	A	32634324	2	1	258	1	0	0	0	0	0	0	0	1	15523	1136	40	1		1	TAF1L	9	32634324	Silent	SNP	G	TCGA-24-1842-01A-01W-0639-09		32634324	108579107	14	14217											
KIAA1462	57608	genome.wustl.edu	37	10	30336586	30336586	+	Silent	SNP	C	C	T	rs376588282		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr10:30336586C>T	ENST00000375377.1	-	2	257	c.156G>A	c.(154-156)gcG>gcA	p.A52A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	52					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTGCGAGGGCCGCAGGGCCAT	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		17071	0		0	False		,,,				2504	0															0			10						C		1,4063		0,1,2031	48	54	52		156	-10.1	0	10		52	0,8344		0,0,4172	no	coding-synonymous	KIAA1462	NM_020848.2		0,1,6203	TT,TC,CC		0.0,0.0246,0.0081		52/1360	30336586	1,12407	2032	4172	6204	30376592	SO:0001819	synonymous_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.156G>A	10.37:g.30336586C>T			30376592	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																				0.672	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		T	30336586	C	T	30336586	2	4	258	1	0	0	0	0	0	0	0	1	8234	639	23	1		1	KIAA1462	10	30336586	Silent	SNP	C	TCGA-24-1842-01A-01W-0639-09		30336586	105198161	15	14218											
CCDC6	8030	genome.wustl.edu	37	10	61564179	61564185	+	Splice_Site	DEL	AGGTGAT	AGGTGAT	-			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	AGGTGAT	AGGTGAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr10:61564179_61564185delAGGTGAT	ENST00000263102.6	-	7	1329_1335	c.1098_1104delATCACCT	c.(1096-1104)atatcacct>at	p.ISP366fs		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	366						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TATGCTCACCAGGTGATATAGGCCTGC	0.449			T	RET	NSCLC																																		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0			10																																								61234191	SO:0001630	splice_region_variant	8030			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1105+1ATCACCT>-	10.37:g.61564179_61564185delAGGTGAT			61234185	Q15250|Q6GSG7	Frame_Shift_Del	DEL	ENST00000263102.6	37	CCDS7257.1																																																																																				0.449	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436	Frame_Shift_Del	-	61564185	AGGTGAT	-	61564179	8	5	258	1	0	1	0	1	0	0	1	0	2830	202	7	0	332	0	CCDC6	10	61564179	Splice_Site	DEL	AGGTGAT	TCGA-24-1842-01A-01W-0639-09	31227593	61564179	73970568	16	14219											
GLUD1	2746	genome.wustl.edu	37	10	88811533	88811533	+	Missense_Mutation	SNP	T	T	C	rs373705613		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr10:88811533T>C	ENST00000277865.4	-	13	1748	c.1652A>G	c.(1651-1653)aAt>aGt	p.N551S	GLUD1_ENST00000544149.1_Missense_Mutation_p.N418S|GLUD1_ENST00000537649.1_Missense_Mutation_p.N384S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	551					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ACCAGCTTCATTGTACACTTT	0.423																																																0			10						T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	258	222	234		1652	4.9	1	10		234	0,8600		0,0,4300	no	missense	GLUD1	NM_005271.3	46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	551/559	88811533	1,13005	2203	4300	6503	88801513	SO:0001583	missense	2746			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1652A>G	10.37:g.88811533T>C	ENSP00000277865:p.Asn551Ser		88801513	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933545	0.34096	2.27E-4	0.0	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96265	-3.96;-3.96;-3.96	4.94	4.94	0.65067	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.046500	0.85682	N	0.000000	D	0.91815	0.7410	N	0.20986	0.625	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.88416	0.3025	10	0.21014	T	0.42	.	14.907	0.70727	0.0:0.0:0.0:1.0	.	418;551	B4DGN5;P00367	.;DHE3_HUMAN	S	551;508;384;250;483;418	ENSP00000277865:N551S;ENSP00000439291:N384S;ENSP00000444732:N418S	ENSP00000277865:N551S	N	-	2	0	GLUD1	88801513	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.273000	0.72581	2.005000	0.58758	0.454000	0.30748	AAT		0.423	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		C	88811533	T	C	88811533	3	2	258	1	0	0	0	0	1	0	0	0	6476	1493	52	4	28	4	GLUD1	10	88811533	Missense_Mutation	SNP	T	TCGA-24-1842-01A-01W-0639-09	27247354	88811533	46723214	17	14220											
IFITM1	8519	genome.wustl.edu	37	11	314259	314259	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr11:314259A>T	ENST00000408968.3	+	1	407	c.89A>T	c.(88-90)gAg>gTg	p.E30V	IFITM1_ENST00000528780.1_Missense_Mutation_p.E30V|IFITM1_ENST00000328221.5_Missense_Mutation_p.E30V	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	30					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCACAGCGAGACCTCCGTG	0.577																																																0			11											116	123	120					11																	314259		2045	4180	6225	304259	SO:0001583	missense	8519			J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"CD molecules"	5412	protein-coding gene	gene with protein product	"interferon-induced transmembrane protein 1"	604456	"interferon induced transmembrane protein 1 (9-27)"	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.89A>T	11.37:g.314259A>T	ENSP00000386187:p.Glu30Val		304259	Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	37	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902971	0.52227	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.86432	-2.12;-2.12;-2.12	3.14	2.02	0.26589	.	0.272815	0.26844	U	0.022214	D	0.91673	0.7368	M	0.86502	2.82	0.09310	N	1	P	0.49559	0.925	D	0.67103	0.949	T	0.81955	-0.0696	10	0.56958	D	0.05	.	4.4349	0.11545	0.8435:0.0:0.1565:0.0	.	30	P13164	IFM1_HUMAN	V	30;30;30;35	ENSP00000437057:E30V;ENSP00000330825:E30V;ENSP00000386187:E30V	ENSP00000330825:E30V	E	+	2	0	IFITM1	304259	0.450000	0.25697	0.008000	0.14137	0.071000	0.16799	1.566000	0.36396	1.446000	0.47643	0.172000	0.16884	GAG		0.577	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		T	314259	A	T	314259	3	4	258	1	0	0	0	0	1	0	0	0	7526	304	11	5	91	5	IFITM1	11	314259	Missense_Mutation	SNP	A	TCGA-24-1842-01A-01W-0639-09		314259	134692257	18	14221											
GYS2	2998	genome.wustl.edu	37	12	21711193	21711193	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr12:21711193G>C	ENST00000261195.2	-	11	1617	c.1363C>G	c.(1363-1365)Ccc>Gcc	p.P455A		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	455					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGAGGATGGGGTCGGTGGAG	0.438																																					Colon(149;9 1820 3690 10544 50424)											0			12											183	151	161					12																	21711193		2203	4300	6503	21602460	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1363C>G	12.37:g.21711193G>C	ENSP00000261195:p.Pro455Ala		21602460	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494792	0.85069	.	.	ENSG00000111713	ENST00000261195	T	0.74526	-0.85	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.83280	0.5220	M	0.89163	3.01	0.80722	D	1	B	0.24368	0.102	B	0.41619	0.361	D	0.84711	0.0734	10	0.72032	D	0.01	-18.79	13.411	0.60942	0.0:0.1575:0.8425:0.0	.	455	P54840	GYS2_HUMAN	A	455	ENSP00000261195:P455A	ENSP00000261195:P455A	P	-	1	0	GYS2	21602460	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.612000	0.82975	2.480000	0.83734	0.655000	0.94253	CCC		0.438	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		C	21711193	G	C	21711193	3	2	258	1	0	0	0	0	1	0	0	0	6913	1232	43	3	772	3	GYS2	12	21711193	Missense_Mutation	SNP	G	TCGA-24-1842-01A-01W-0639-09		21711193	112140702	19	14222											
KIF21A	55605	genome.wustl.edu	37	12	39735346	39735346	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr12:39735346C>T	ENST00000361418.5	-	14	1897	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	KIF21A_ENST00000541463.2_Missense_Mutation_p.E615K|KIF21A_ENST00000395670.3_Missense_Mutation_p.E628K|KIF21A_ENST00000361961.3_Missense_Mutation_p.E615K|KIF21A_ENST00000544797.2_Missense_Mutation_p.E615K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	628					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCAGAACTTTCACCCCCATCA	0.383																																																0			12											118	115	116					12																	39735346		2203	4300	6503	38021613	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1882G>A	12.37:g.39735346C>T	ENSP00000354878:p.Glu628Lys		38021613	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914517	0.92178	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000090	T	0.81973	0.4936	M	0.77313	2.365	0.53688	D	0.999979	D;D;P;D	0.64830	0.994;0.994;0.953;0.988	D;D;P;P	0.63488	0.915;0.915;0.551;0.717	D	0.83816	0.0244	10	0.72032	D	0.01	.	19.3856	0.94555	0.0:1.0:0.0:0.0	.	615;615;628;615	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	K	615;628;628;615;628;615	ENSP00000354851:E615K;ENSP00000379029:E628K;ENSP00000445606:E615K;ENSP00000354878:E628K;ENSP00000438075:E615K	ENSP00000344501:E628K	E	-	1	0	KIF21A	38021613	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.749000	0.74883	2.570000	0.86706	0.655000	0.94253	GAA		0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		T	39735346	C	T	39735346	3	4	258	1	0	0	0	0	1	0	0	0	8288	835	29	2	3242	2	KIF21A	12	39735346	Missense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09	18024153	39735346	94116549	20	14223											
SLC38A2	54407	genome.wustl.edu	37	12	46760705	46760705	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr12:46760705C>T	ENST00000256689.5	-	7	949	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	SLC38A2_ENST00000551374.1_5'Flank|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	169					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TCATATTTCACTATGAAGAGG	0.393																																					Ovarian(9;448 492 8335 28722 40361)											0			12											88	83	85					12																	46760705		2203	4300	6503	45046972	SO:0001583	missense	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.505G>A	12.37:g.46760705C>T	ENSP00000256689:p.Val169Met		45046972	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	35	5.514950	0.96402	.	.	ENSG00000134294	ENST00000256689	T	0.02606	4.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.984;0.999	T	0.00002	-1.2619	10	0.62326	D	0.03	-20.3547	20.8794	0.99867	0.0:1.0:0.0:0.0	.	69;169	Q96QD8-2;Q96QD8	.;S38A2_HUMAN	M	169	ENSP00000256689:V169M	ENSP00000256689:V169M	V	-	1	0	SLC38A2	45046972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.940000	0.63533	2.941000	0.99782	0.655000	0.94253	GTG		0.393	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			T	46760705	C	T	46760705	3	4	258	1	0	0	0	0	1	0	0	0	14607	565	20	2	1055	2	SLC38A2	12	46760705	Missense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09	7025359	46760705	87091190	21	14224											
MYO16	23026	genome.wustl.edu	37	13	109475516	109475516	+	Silent	SNP	C	C	T	rs141603684	byFrequency	TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr13:109475516C>T	ENST00000357550.2	+	8	962	c.921C>T	c.(919-921)gcC>gcT	p.A307A	MYO16_ENST00000251041.5_Silent_p.A307A|MYO16_ENST00000356711.2_Silent_p.A307A	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCTGAAAGCCGAAATTGCCT	0.383													C|||	24	0.00479233	0.0174	0.0014	5008	,	,		15469	0		0	False		,,,				2504	0															0			13						C	,	57,4349	55.5+/-91.7	0,57,2146	124	138	133		987,921	-10.7	0.1	13	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MYO16	NM_001198950.1,NM_015011.1	,	0,58,6445	TT,TC,CC		0.0116,1.2937,0.4459	,	329/1881,307/1859	109475516	58,12948	2203	4300	6503	108273517	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.921C>T	13.37:g.109475516C>T			108273517		Silent	SNP	ENST00000357550.2	37	CCDS32008.1																																																																																				0.383	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		T	109475516	C	T	109475516	2	4	258	1	0	0	0	0	0	0	0	1	10064	639	23	1		1	MYO16	13	109475516	Silent	SNP	C	TCGA-24-1842-01A-01W-0639-09		109475516	5694362	22	14225											
MGA	23269	genome.wustl.edu	37	15	42035078	42035078	+	Silent	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr15:42035078C>T	ENST00000570161.1	+	14	4920	c.4920C>T	c.(4918-4920)gtC>gtT	p.V1640V	MGA_ENST00000389936.4_Silent_p.V1640V|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron|MGA_ENST00000219905.7_Silent_p.V1640V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTTGAGGTCTCTGAAACTA	0.448																																																0			15											86	81	82					15																	42035078		1892	4124	6016	39822370	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4920C>T	15.37:g.42035078C>T			39822370	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	CCDS55959.1																																																																																				0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		T	42035078	C	T	42035078	2	4	258	1	0	0	0	0	0	0	0	1	9540	900	32	2		2	MGA	15	42035078	Silent	SNP	C	TCGA-24-1842-01A-01W-0639-09		42035078	60496314	23	14226											
IL21R	50615	genome.wustl.edu	37	16	27456012	27456013	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	CC	CC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr16:27456012_27456013delCC	ENST00000337929.3	+	6	1130_1131	c.657_658delCC	c.(655-660)gacccgfs	p.P220fs	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Frame_Shift_Del_p.P220fs|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Frame_Shift_Del_p.P220fs|IL21R_ENST00000395754.4_Frame_Shift_Del_p.P220fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	220	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AATGGAGTGACCCGGTCATCTT	0.584			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16																																								27363514	SO:0001589	frameshift_variant	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.657_658delCC	16.37:g.27456012_27456013delCC	ENSP00000338010:p.Pro220fs		27363513	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Frame_Shift_Del	DEL	ENST00000337929.3	37	CCDS10630.1																																																																																				0.584	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		-	27456013	CC	-	27456012	7	5	258	1	0	1	0	1	0	0	0	0	7671	506	18	0	675	0	IL21R	16	27456012	Frame_Shift_Del	DEL	CC	TCGA-24-1842-01A-01W-0639-09		27456012	62898741	24	14227											
MYST1	84148	genome.wustl.edu	37	16	31131661	31131661	+	Splice_Site	SNP	T	T	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr16:31131661T>A	ENST00000543774.2	+	4	623	c.288T>A	c.(286-288)ttT>ttA	p.F96L	RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Splice_Site_p.F96L|KAT8_ENST00000219797.4_Splice_Site_p.F96L			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	96	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										TACTTACAGTTAACCGGCGGC	0.567																																																0			16											84	80	82					16																	31131661		2197	4300	6497	31039162	SO:0001630	splice_region_variant	84148			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17933	protein-coding gene	gene with protein product		609912	"MYST histone acetyltransferase 1"	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.287-1T>A	16.37:g.31131661T>A			31039162	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078529	0.55753	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.44083	0.93;0.93	5.83	4.71	0.59529	.	0.048744	0.85682	D	0.000000	T	0.24967	0.0606	N	0.13299	0.325	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04752	-1.0929	10	0.21014	T	0.42	.	11.1625	0.48524	0.0:0.0737:0.0:0.9263	.	96;96	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	L	96	ENSP00000219797:F96L;ENSP00000406037:F96L	ENSP00000219797:F96L	F	+	3	2	KAT8	31039162	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.133000	0.31430	1.007000	0.39238	0.533000	0.62120	TTT		0.567	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188	Missense_Mutation	A	31131661	T	A	31131661	5	1	258	1	0	0	0	0	0	0	1	0	10102	1768	61	5	298	5	MYST1	16	31131661	Splice_Site	SNP	T	TCGA-24-1842-01A-01W-0639-09	3675649	31131661	59223092	25	14228											
TP53	7157	genome.wustl.edu	37	17	7577509	7577509	+	Missense_Mutation	SNP	C	C	T	rs121912652		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr17:7577509C>T	ENST00000269305.4	-	7	961	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	TP53_ENST00000413465.2_Missense_Mutation_p.E258K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E258K|TP53_ENST00000455263.2_Missense_Mutation_p.E258K|TP53_ENST00000445888.2_Missense_Mutation_p.E258K|TP53_ENST00000420246.2_Missense_Mutation_p.E258K	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	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E258K(40)|p.E258*(15)|p.E258Q(9)|p.0?(8)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.T256fs*87(1)|p.E258L(1)|p.E258fs*87(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)	CTGGAGTCTTCCAGTGTGATG	0.587		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"	82	Substitution - Missense(50)|Substitution - Nonsense(15)|Whole gene deletion(8)|Deletion - Frameshift(5)|Deletion - In frame(2)|Unknown(1)|Complex - insertion inframe(1)	large_intestine(14)|urinary_tract(10)|upper_aerodigestive_tract(7)|haematopoietic_and_lymphoid_tissue(7)|skin(7)|lung(6)|oesophagus(5)|central_nervous_system(4)|breast(4)|ovary(4)|bone(4)|stomach(2)|liver(2)|thyroid(1)|soft_tissue(1)|peritoneum(1)|biliary_tract(1)|endometrium(1)|pancreas(1)	17	GRCh37	CM900213	TP53	M	rs121912652						137	97	111					17																	7577509		2203	4300	6503	7518234	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.772G>A	17.37:g.7577509C>T	ENSP00000269305:p.Glu258Lys		7518234	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896324	0.72639	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.62	3.62	0.41486	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	0.99871	0.9939	M	0.92367	3.3	0.80722	A	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;1.0	D	0.96542	0.9401	9	0.87932	D	0	-21.9865	12.6215	0.56605	0.0:0.8318:0.1682:0.0	.	258;258;258;258;258	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	K	258;258;258;258;258;258;247;126	ENSP00000410739:E258K;ENSP00000352610:E258K;ENSP00000269305:E258K;ENSP00000398846:E258K;ENSP00000391127:E258K;ENSP00000391478:E258K;ENSP00000425104:E126K	ENSP00000269305:E258K	E	-	1	0	TP53	7518234	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.609000	0.82925	1.266000	0.44231	0.462000	0.41574	GAA		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577509	C	T	7577509	3	4	258	1	0	0	0	0	1	0	0	0	16381	864	30	2	518	2	TP53	17	7577509	Missense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09		7577509	73617701	26	14229											
MAPK7	5598	genome.wustl.edu	37	17	19284499	19284499	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr17:19284499G>A	ENST00000308406.5	+	4	1363	c.977G>A	c.(976-978)cGc>cAc	p.R326H	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.R187H|MAPK7_ENST00000395604.3_Missense_Mutation_p.R326H|MAPK7_ENST00000395602.4_Missense_Mutation_p.R326H	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	326	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTGCTGGGTCGCATGCTGCGT	0.622																																																0			17											53	54	54					17																	19284499		2203	4300	6503	19225092	SO:0001583	missense	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.977G>A	17.37:g.19284499G>A	ENSP00000311005:p.Arg326His		19225092	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324800	0.41197	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.04	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.495923	0.22448	N	0.059927	T	0.54759	0.1878	L	0.54908	1.71	0.29109	N	0.881004	P	0.44659	0.84	B	0.35312	0.2	T	0.62469	-0.6848	10	0.72032	D	0.01	-4.9273	8.0033	0.30310	0.0967:0.1776:0.7257:0.0	.	326	Q13164	MK07_HUMAN	H	326;187;326;326	ENSP00000311005:R326H;ENSP00000299612:R187H;ENSP00000378968:R326H;ENSP00000378966:R326H	ENSP00000299612:R187H	R	+	2	0	MAPK7	19225092	0.954000	0.32549	0.984000	0.44739	0.984000	0.73092	2.292000	0.43549	2.335000	0.79485	0.561000	0.74099	CGC		0.622	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		A	19284499	G	A	19284499	3	1	258	1	0	0	0	0	1	0	0	0	9282	1087	38	1	987	1	MAPK7	17	19284499	Missense_Mutation	SNP	G	TCGA-24-1842-01A-01W-0639-09	11706990	19284499	61910711	27	14230											
CDK12	51755	genome.wustl.edu	37	17	37673794	37673796	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	GAG	GAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr17:37673794_37673796delGAG	ENST00000447079.4	+	10	2981_2983	c.2948_2950delGAG	c.(2947-2952)cgagaa>caa	p.983_984RE>Q	CDK12_ENST00000430627.2_In_Frame_Del_p.983_984RE>Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	983	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCGTCTACGAGAAGAATTCTC	0.463			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17																																								34927322	SO:0001651	inframe_deletion	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2948_2950delGAG	17.37:g.37673794_37673796delGAG	ENSP00000398880:p.Arg983_Glu984delinsGln		34927320	A7E2B2|B4DYX4|B9EIQ6|O94978	In_Frame_Del	DEL	ENST00000447079.4	37	CCDS11337.1																																																																																				0.463	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		-	37673796	GAG	-	37673794	7	5	258	1	0	1	0	1	0	0	0	0	3128	1058	37	0	2986	0	CDK12	17	37673794	In_Frame_Del	DEL	GAG	TCGA-24-1842-01A-01W-0639-09	18389295	37673794	43521416	28	14231											
SRP68	6730	genome.wustl.edu	37	17	74057616	74057616	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr17:74057616G>T	ENST00000307877.2	-	5	762	c.601C>A	c.(601-603)Cat>Aat	p.H201N	SRP68_ENST00000355113.5_Missense_Mutation_p.H100N|SRP68_ENST00000539137.1_Missense_Mutation_p.H163N	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	201					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CATTCTTGATGTTCAAAACGT	0.423																																																0			17											118	104	109					17																	74057616		2203	4300	6503	71569211	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.601C>A	17.37:g.74057616G>T	ENSP00000312066:p.His201Asn		71569211	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100281	0.56183	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.28255	1.62;1.62;1.62	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);	0.100687	0.64402	D	0.000001	T	0.22513	0.0543	N	0.22421	0.69	0.40654	D	0.982067	B;B	0.29805	0.257;0.257	B;B	0.26864	0.074;0.074	T	0.05632	-1.0873	10	0.17832	T	0.49	-20.2014	18.3055	0.90179	0.0:0.0:1.0:0.0	.	163;201	G3V1U4;Q9UHB9	.;SRP68_HUMAN	N	163;201;201;201;100	ENSP00000446136:H163N;ENSP00000312066:H201N;ENSP00000347233:H100N	ENSP00000307756:H201N	H	-	1	0	SRP68	71569211	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	6.992000	0.76238	2.832000	0.97577	0.655000	0.94253	CAT		0.423	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		T	74057616	G	T	74057616	3	4	258	1	0	0	0	0	1	0	0	0	15158	1377	48	3	1330	3	SRP68	17	74057616	Missense_Mutation	SNP	G	TCGA-24-1842-01A-01W-0639-09	36383822	74057616	7137594	29	14232											
EMR3	84658	genome.wustl.edu	37	19	14752244	14752244	+	Missense_Mutation	SNP	C	C	T	rs377703147		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr19:14752244C>T	ENST00000253673.5	-	10	1335	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	EMR3_ENST00000599900.1_Missense_Mutation_p.R197Q|EMR3_ENST00000443157.2_Missense_Mutation_p.R286Q|EMR3_ENST00000344373.4_Missense_Mutation_p.R360Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	412					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGGTTCAGTTCGATCAATCCC	0.532													C|||	1	0.000199681	0	0	5008	,	,		20472	0		0.001	False		,,,				2504	0															0			19						C	GLN/ARG	1,4405	826.1+/-416.6	0,1,2202	128	97	107		1235	-7.8	0	19		107	0,8600		0,0,4300	no	missense	EMR3	NM_032571.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	412/653	14752244	1,13005	2203	4300	6503	14613244	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1235G>A	19.37:g.14752244C>T	ENSP00000253673:p.Arg412Gln		14613244		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	T	5.400	0.259032	0.10239	2.27E-4	0.0	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.37752	1.18;1.18;1.18	3.97	-7.84	0.01196	GPCR, family 2-like (1);	.	.	.	.	T	0.11623	0.0283	N	0.03881	-0.34	0.09310	N	1	P;B;B	0.35551	0.509;0.141;0.221	B;B;B	0.34301	0.179;0.112;0.066	T	0.27088	-1.0084	9	0.15066	T	0.55	.	7.8532	0.29468	0.1132:0.2589:0.0:0.6279	.	286;360;412	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	Q	286;412;360	ENSP00000396208:R286Q;ENSP00000253673:R412Q;ENSP00000340758:R360Q	ENSP00000253673:R412Q	R	-	2	0	EMR3	14613244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.647000	0.05397	-1.539000	0.01732	-2.215000	0.00298	CGA		0.532	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		T	14752244	C	T	14752244	3	4	258	1	0	0	0	0	1	0	0	0	5106	884	31	1	751	1	EMR3	19	14752244	Missense_Mutation	SNP	C	TCGA-24-1842-01A-01W-0639-09		14752244	44376739	30	14233											
ZNF626	199777	genome.wustl.edu	37	19	20807903	20807903	+	Silent	SNP	A	A	G			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr19:20807903A>G	ENST00000601440.1	-	4	926	c.780T>C	c.(778-780)gaT>gaC	p.D260D	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGCCACATTTATCACACTTGT	0.393																																																0			19											58	61	60					19																	20807903		2198	4300	6498	20599743	SO:0001819	synonymous_variant	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.780T>C	19.37:g.20807903A>G			20599743	Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	CCDS42535.1																																																																																				0.393	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		G	20807903	A	G	20807903	2	3	258	1	0	0	0	0	0	0	0	1	18050	446	16	4		4	ZNF626	19	20807903	Silent	SNP	A	TCGA-24-1842-01A-01W-0639-09	6055659	20807903	38321080	31	14234											
PSG2	5670	genome.wustl.edu	37	19	43570734	43570734	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr19:43570734A>T	ENST00000406487.1	-	5	1081	c.983T>A	c.(982-984)cTt>cAt	p.L328H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	328					cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GAGAGGAAGAAGTCCTATTCT	0.413																																																0			19											169	163	165					19																	43570734		2201	4298	6499	48262574	SO:0001583	missense	5670				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.983T>A	19.37:g.43570734A>T	ENSP00000385706:p.Leu328His		48262574	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.433694	0.00013	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942	T	0.33216	1.42	0.514	-1.03	0.10102	.	.	.	.	.	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	8	0.15499	T	0.54	.	.	.	.	.	328	P11465	PSG2_HUMAN	H	328	ENSP00000385706:L328H	ENSP00000332984:L328H	L	-	2	0	PSG2	48262574	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.011000	0.00647	-3.102000	0.00244	-3.169000	0.00057	CTT		0.413	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		T	43570734	A	T	43570734	3	4	258	1	0	0	0	0	1	0	0	0	12658	72	3	5	28	5	PSG2	19	43570734	Missense_Mutation	SNP	A	TCGA-24-1842-01A-01W-0639-09	22762831	43570734	15558249	32	14235											
KRTAP15-1	254950	genome.wustl.edu	37	21	31812745	31812745	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr21:31812745G>A	ENST00000334067.3	+	1	149	c.100G>A	c.(100-102)Gcc>Acc	p.A34T		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	34						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CCCCAGCAATGCCATCTATTC	0.483																																																0			21											88	88	88					21																	31812745		2203	4300	6503	30734616	SO:0001583	missense	254950			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"Keratin associated proteins"	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.100G>A	21.37:g.31812745G>A	ENSP00000334866:p.Ala34Thr		30734616	Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408893	0.25378	.	.	ENSG00000186970	ENST00000334067	T	0.03124	4.04	4.57	0.775	0.18527	.	1.565470	0.04454	N	0.373238	T	0.03178	0.0093	N	0.17474	0.49	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.45352	-0.9267	10	0.38643	T	0.18	2.7982	6.8823	0.24181	0.3803:0.0:0.6197:0.0	.	34	Q3LI76	KR151_HUMAN	T	34	ENSP00000334866:A34T	ENSP00000334866:A34T	A	+	1	0	KRTAP15-1	30734616	0.145000	0.22656	0.016000	0.15963	0.021000	0.10359	0.536000	0.23129	0.135000	0.18707	0.655000	0.94253	GCC		0.483	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			A	31812745	G	A	31812745	3	1	258	1	0	0	0	0	1	0	0	0	8526	1319	46	2	102	2	KRTAP15-1	21	31812745	Missense_Mutation	SNP	G	TCGA-24-1842-01A-01W-0639-09		31812745	16317150	33	14236											
CLTCL1	8218	genome.wustl.edu	37	22	19241626	19241626	+	Silent	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr22:19241626G>A	ENST00000263200.10	-	3	447	c.375C>T	c.(373-375)acC>acT	p.T125T	CLTCL1_ENST00000353891.5_Silent_p.T125T|CLTCL1_ENST00000427926.1_Silent_p.T125T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	125	Globular terminal domain.|WD40-like repeat 3.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGTAGACCGCGGTCTCGGTCA	0.483			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0			22											62	62	62					22																	19241626		1972	4159	6131	17621626	SO:0001819	synonymous_variant	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.375C>T	22.37:g.19241626G>A			17621626	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																				0.483	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19241626	G	A	19241626	2	1	258	1	0	0	0	0	0	0	0	1	3567	1103	39	1		1	CLTCL1	22	19241626	Silent	SNP	G	TCGA-24-1842-01A-01W-0639-09		19241626	32062940	34	14237											
TUBGCP6	85378	genome.wustl.edu	37	22	50682515	50682515	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr22:50682515A>G	ENST00000248846.5	-	1	478	c.374T>C	c.(373-375)gTt>gCt	p.V125A	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V125A|MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	125					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTCGGCAGAACTTGAGGGGG	0.547																																																0			22											81	77	78					22																	50682515		2202	4300	6502	49024642	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.374T>C	22.37:g.50682515A>G	ENSP00000248846:p.Val125Ala		49024642	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	A	5.118	0.207453	0.09704	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.12879	3.04;2.64	3.97	0.47	0.16747	.	1.072620	0.07201	N	0.857486	T	0.06462	0.0166	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16396	0.017;0.003;0.001	B;B;B	0.12837	0.008;0.004;0.005	T	0.40534	-0.9558	10	0.06494	T	0.89	.	5.1176	0.14843	0.548:0.2858:0.1662:0.0	.	125;125;125	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	A	125	ENSP00000248846:V125A;ENSP00000397387:V125A	ENSP00000248846:V125A	V	-	2	0	TUBGCP6	49024642	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.551000	0.23361	-0.079000	0.12707	0.459000	0.35465	GTT		0.547	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		G	50682515	A	G	50682515	3	3	258	1	0	0	0	0	1	0	0	0	16770	43	2	4	5185	4	TUBGCP6	22	50682515	Missense_Mutation	SNP	A	TCGA-24-1842-01A-01W-0639-09	31440889	50682515	622051	35	14238											
CDK16	5127	genome.wustl.edu	37	X	47086093	47086093	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chrX:47086093T>C	ENST00000357227.4	+	10	1452	c.1028T>C	c.(1027-1029)aTt>aCt	p.I343T	CDK16_ENST00000276052.6_Missense_Mutation_p.I417T|CDK16_ENST00000457458.2_Missense_Mutation_p.I349T|CDK16_ENST00000518022.1_Missense_Mutation_p.I343T	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TCCACTCAGATTGACATGTGG	0.552																																																0			X											81	66	71					X																	47086093		2203	4300	6503	46971037	SO:0001583	missense	5127				CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"Cyclin-dependent kinases"	8749	protein-coding gene	gene with protein product	"serine/threonine-protein kinase"	311550	"PCTAIRE protein kinase 1"	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.1028T>C	X.37:g.47086093T>C	ENSP00000349762:p.Ile343Thr		46971037	A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	ENST00000357227.4	37	CCDS14276.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658973	0.67586	.	.	ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000540877;ENST00000540311;ENST00000517426;ENST00000518022;ENST00000276052;ENST00000523344	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.48	5.48	0.80851	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	0.64778	0.2629	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.91635	0.999;0.99;0.997	T	0.68010	-0.5522	10	0.87932	D	0	-6.9137	13.5688	0.61834	0.0:0.0:0.0:1.0	.	417;441;343	B7Z7C8;B7Z8T0;Q00536	.;.;CDK16_HUMAN	T	349;343;441;295;343;343;417;100	ENSP00000405798:I349T;ENSP00000349762:I343T;ENSP00000429985:I343T;ENSP00000429751:I343T;ENSP00000276052:I417T;ENSP00000428349:I100T	ENSP00000276052:I417T	I	+	2	0	CDK16	46971037	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.948000	0.87774	1.847000	0.53656	0.430000	0.28490	ATT		0.552	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2	NM_006201		C	47086093	T	C	47086093	3	2	258	1	0	0	0	0	1	0	0	0	3132	1493	52	4	1304	4	CDK16	23	47086093	Missense_Mutation	SNP	T	TCGA-24-1842-01A-01W-0639-09		47086093	108184467	36	14239											
NRK	203447	genome.wustl.edu	37	X	105156665	105156665	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chrX:105156665A>G	ENST00000243300.9	+	14	2570	c.2267A>G	c.(2266-2268)aAt>aGt	p.N756S	NRK_ENST00000428173.2_Missense_Mutation_p.N757S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	756					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCATCAGACAATGATGAAGTA	0.303										HNSCC(51;0.14)																																						0			X											38	32	34					X																	105156665		1828	4064	5892	105043321	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2267A>G	X.37:g.105156665A>G	ENSP00000434830:p.Asn756Ser		105043321	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	A	16.79	3.220000	0.58560	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77489	-1.09;-1.1	3.69	3.69	0.42338	.	0.000000	0.44285	D	0.000463	T	0.78767	0.4335	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.79108	0.992;0.968	T	0.79475	-0.1788	10	0.87932	D	0	.	7.9166	0.29822	1.0:0.0:0.0:0.0	.	424;756	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	S	756;757	ENSP00000434830:N756S;ENSP00000438378:N757S	ENSP00000434830:N756S	N	+	2	0	NRK	105043321	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.568000	0.53820	1.683000	0.51011	0.486000	0.48141	AAT		0.303	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		G	105156665	A	G	105156665	3	3	258	1	0	0	0	0	1	0	0	0	10655	101	4	4	2321	4	NRK	23	105156665	Missense_Mutation	SNP	A	TCGA-24-1842-01A-01W-0639-09	58070572	105156665	50113895	37	14240											
ZNF275	10838	genome.wustl.edu	37	X	152612701	152612701	+	Silent	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chrX:152612701C>T	ENST00000421401.3	+	4	735	c.558C>T	c.(556-558)tgC>tgT	p.C186C	ZNF275_ENST00000370251.3_Silent_p.C186C|ZNF275_ENST00000440091.1_Silent_p.C216C|ZNF275_ENST00000370249.2_Silent_p.C133C			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGAGGAGTGCGGAAAACGGT	0.607													C|||	1	0.000264901	0	0	3775	,	,		13449	0.001		0	False		,,,				2504	0															0			X											87	93	91					X																	152612701		2197	4288	6485	152265895	SO:0001819	synonymous_variant	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.558C>T	X.37:g.152612701C>T			152265895	A6NE92	Silent	SNP	ENST00000421401.3	37																																																																																					0.607	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		T	152612701	C	T	152612701	2	4	258	1	0	0	0	0	0	0	0	1	17810	776	27	1		1	ZNF275	23	152612701	Silent	SNP	C	TCGA-24-1842-01A-01W-0639-09	47456036	152612701	2657859	38	14241											
PTCHD2	57540	genome.wustl.edu	37	1	11562878	11562878	+	Missense_Mutation	SNP	C	C	T	rs576336989		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:11562878C>T	ENST00000294484.6	+	3	1378	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R414C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	414					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.R631C(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGTAGATGACCGCTGGGAGGA	0.562																																																1	Substitution - Missense(1)	endometrium(1)	1											92	94	93					1																	11562878		2006	4173	6179	11485465	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1240C>T	1.37:g.11562878C>T	ENSP00000294484:p.Arg414Cys		11485465	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199298	0.79015	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.91521	-2.85;-2.86	6.08	5.17	0.71159	.	0.054048	0.85682	N	0.000000	D	0.93268	0.7855	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.93871	0.7162	10	0.87932	D	0	-36.8993	13.9911	0.64367	0.0:0.9274:0.0:0.0726	.	414	Q9P2K9	PTHD2_HUMAN	C	414	ENSP00000294484:R414C;ENSP00000374226:R414C	ENSP00000294484:R414C	R	+	1	0	PTCHD2	11485465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.821000	0.48065	1.592000	0.50018	0.655000	0.94253	CGC		0.562	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11562878	C	T	11562878	3	4	259	1	0	0	0	0	1	0	0	0	12736	652	23	1	1246	1	PTCHD2	1	11562878	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09		11562878	237687743	1	14242											
TAS1R2	80834	genome.wustl.edu	37	1	19186053	19186053	+	Silent	SNP	G	G	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:19186053G>T	ENST00000375371.3	-	1	123	c.102C>A	c.(100-102)ctC>ctA	p.L34L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	34					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCCACCCAGGAGGTAATCCC	0.587																																																0			1											119	110	113					1																	19186053		2203	4300	6503	19058640	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.102C>A	1.37:g.19186053G>T			19058640	Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																				0.587	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19186053	G	T	19186053	2	4	259	1	0	0	0	0	0	0	0	1	15563	1161	41	3		3	TAS1R2	1	19186053	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	7623175	19186053	230064568	2	14243											
IPO13	9670	genome.wustl.edu	37	1	44422884	44422884	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:44422884C>T	ENST00000372343.3	+	6	1951	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	430					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATCTCAGACACGCTCATGTAT	0.567																																																0			1											104	104	104					1																	44422884		2203	4300	6503	44195471	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1289C>T	1.37:g.44422884C>T	ENSP00000361418:p.Thr430Met		44195471	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114562	0.77210	.	.	ENSG00000117408	ENST00000372343	T	0.68624	-0.34	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82356	0.5019	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79909	-0.1604	10	0.37606	T	0.19	-16.6704	20.031	0.97536	0.0:1.0:0.0:0.0	.	430	O94829	IPO13_HUMAN	M	430	ENSP00000361418:T430M	ENSP00000361418:T430M	T	+	2	0	IPO13	44195471	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	7.716000	0.84723	2.728000	0.93425	0.561000	0.74099	ACG		0.567	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		T	44422884	C	T	44422884	3	4	259	1	0	0	0	0	1	0	0	0	7794	536	19	1	1311	1	IPO13	1	44422884	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	25236831	44422884	204827737	3	14244											
UROD	7389	genome.wustl.edu	37	1	45481027	45481027	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:45481027G>A	ENST00000246337.4	+	10	1080	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	321					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					CGGGCAGTTGGTGAAGCAGAT	0.537									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											129	111	117					1																	45481027		2203	4300	6503	45253614	SO:0001583	missense	7389	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.961G>A	1.37:g.45481027G>A	ENSP00000246337:p.Val321Met	931	45253614	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	ENST00000246337.4	37	CCDS518.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649907	0.67472	.	.	ENSG00000126088	ENST00000246337	D	0.95724	-3.79	4.89	4.89	0.63831	Uroporphyrinogen decarboxylase (URO-D) (1);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	M	0.93241	3.395	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	D	0.99174	1.0865	10	0.87932	D	0	-39.5658	18.5947	0.91226	0.0:0.0:1.0:0.0	.	321	P06132	DCUP_HUMAN	M	321	ENSP00000246337:V321M	ENSP00000246337:V321M	V	+	1	0	UROD	45253614	1.000000	0.71417	0.974000	0.42286	0.042000	0.13812	8.911000	0.92721	2.710000	0.92621	0.655000	0.94253	GTG		0.537	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		A	45481027	G	A	45481027	3	1	259	1	0	0	0	0	1	0	0	0	17029	1261	44	2	999	2	UROD	1	45481027	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	1058143	45481027	203769594	4	14245											
LHX8	431707	genome.wustl.edu	37	1	75606703	75606703	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:75606703T>C	ENST00000294638.5	+	5	965	c.301T>C	c.(301-303)Tcc>Ccc	p.S101P	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.S91P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	101	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCGGTGTCTCTCCTGCAGTGT	0.398																																																0			1											145	140	142					1																	75606703		2203	4300	6503	75379291	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.301T>C	1.37:g.75606703T>C	ENSP00000294638:p.Ser101Pro		75379291	E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275351	0.80580	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87809	-2.3;-2.3	5.55	5.55	0.83447	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.91109	0.7201	M	0.69358	2.11	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.91960	0.5578	10	0.59425	D	0.04	.	15.6932	0.77473	0.0:0.0:0.0:1.0	.	101	Q68G74	LHX8_HUMAN	P	101;91	ENSP00000294638:S101P;ENSP00000348597:S91P	ENSP00000294638:S101P	S	+	1	0	LHX8	75379291	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.895000	0.69814	2.107000	0.64212	0.528000	0.53228	TCC		0.398	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		C	75606703	T	C	75606703	3	2	259	1	0	0	0	0	1	0	0	0	8776	1551	54	4	315	4	LHX8	1	75606703	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09	30125676	75606703	173643918	5	14246											
FAM102B	284611	genome.wustl.edu	37	1	109171422	109171422	+	Silent	SNP	G	G	A	rs373715075		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:109171422G>A	ENST00000370035.3	+	9	1306	c.966G>A	c.(964-966)gcG>gcA	p.A322A	FAM102B_ENST00000405454.1_Silent_p.A322A	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	322										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ATTCCAGTGCGGAAGGTGTGT	0.418													G|||	1	0.000199681	0	0.0014	5008	,	,		15266	0		0	False		,,,				2504	0															0			1											93	85	87					1																	109171422		2203	4300	6503	108972945	SO:0001819	synonymous_variant	284611			CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.966G>A	1.37:g.109171422G>A			108972945	A1L1A1|B0QZ46|B0QZ47|Q68DH7	Silent	SNP	ENST00000370035.3	37	CCDS30786.2																																																																																				0.418	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		A	109171422	G	A	109171422	2	1	259	1	0	0	0	0	0	0	0	1	5383	1103	39	1		1	FAM102B	1	109171422	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	33564719	109171422	140079199	6	14247											
SPRR2F	6705	genome.wustl.edu	37	1	153085076	153085076	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:153085076C>A	ENST00000468739.1	-	2	194	c.134G>T	c.(133-135)tGc>tTc	p.C45F	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	45	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGGTGGGCAGGACTGTGG	0.607																																																0			1											244	216	225					1																	153085076		2203	4300	6503	151351700	SO:0001583	missense	6705			AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.134G>T	1.37:g.153085076C>A	ENSP00000418193:p.Cys45Phe		151351700	Q5T9T3	Missense_Mutation	SNP	ENST00000468739.1	37	CCDS30867.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.326598	0.01309	.	.	ENSG00000244094	ENST00000468739	T	0.50548	0.74	3.76	0.774	0.18521	.	0.514112	0.14978	N	0.287427	T	0.15565	0.0375	.	.	.	0.09310	N	1	B	0.18863	0.031	B	0.24006	0.05	T	0.27938	-1.0059	9	0.87932	D	0	.	4.0744	0.09897	0.0:0.5792:0.194:0.2267	.	45	Q96RM1	SPR2F_HUMAN	F	45	ENSP00000418193:C45F	ENSP00000418193:C45F	C	-	2	0	SPRR2F	151351700	0.918000	0.31147	0.000000	0.03702	0.079000	0.17450	3.100000	0.50275	-0.014000	0.14175	-0.675000	0.03792	TGC		0.607	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1			A	153085076	C	A	153085076	3	1	259	1	0	0	0	0	1	0	0	0	15103	710	25	3	88	3	SPRR2F	1	153085076	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	43913654	153085076	96165545	7	14248											
SPTA1	6708	genome.wustl.edu	37	1	158614986	158614986	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:158614986C>T	ENST00000368147.4	-	29	4366	c.4186G>A	c.(4186-4188)Gag>Aag	p.E1396K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1396					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTGCAACTCCAGGCACTGG	0.428																																																0			1											168	152	157					1																	158614986		1919	4130	6049	156881610	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4186G>A	1.37:g.158614986C>T	ENSP00000357129:p.Glu1396Lys		156881610	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976159	0.34848	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.34667	1.35;1.35	5.03	0.957	0.19613	.	0.529435	0.14090	N	0.342117	T	0.18551	0.0445	M	0.81112	2.525	0.38779	D	0.954716	B	0.23806	0.091	B	0.27608	0.081	T	0.07927	-1.0747	10	0.17832	T	0.49	.	6.7433	0.23449	0.0:0.6532:0.1268:0.22	.	1396	P02549	SPTA1_HUMAN	K	1396	ENSP00000357130:E1396K;ENSP00000357129:E1396K	ENSP00000357129:E1396K	E	-	1	0	SPTA1	156881610	0.967000	0.33354	0.012000	0.15200	0.373000	0.29922	1.340000	0.33896	0.093000	0.17368	0.650000	0.86243	GAG		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158614986	C	T	158614986	3	4	259	1	0	0	0	0	1	0	0	0	15118	864	30	2	3169	2	SPTA1	1	158614986	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	5529910	158614986	90635635	8	14249											
DARC	2532	genome.wustl.edu	37	1	159175738	159175738	+	Missense_Mutation	SNP	C	C	T	rs200287093	byFrequency	TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:159175738C>T	ENST00000368122.2	+	2	1188	c.509C>T	c.(508-510)aCt>aTt	p.T170I	DARC_ENST00000368121.2_Missense_Mutation_p.T172I|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.T170I	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		170					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTGGGGCTCACTGTGGGAATT	0.627													C|||	2	0.000399361	0	0	5008	,	,		20497	0.002		0	False		,,,				2504	0															0			1											38	32	34					1																	159175738		2203	4300	6503	157442362	SO:0001583	missense	2532																														ENST00000368122.2:c.509C>T	1.37:g.159175738C>T	ENSP00000357104:p.Thr170Ile		157442362	A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	CCDS1183.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.424	0.847122	0.17034	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.30714	1.52;1.52;1.52	5.23	1.14	0.20703	.	1.437920	0.05370	U	0.535262	T	0.17365	0.0417	L	0.39898	1.24	0.09310	N	1	P;B	0.39535	0.677;0.367	P;B	0.47827	0.558;0.429	T	0.37174	-0.9717	10	0.33940	T	0.23	-15.3394	9.0183	0.36184	0.0:0.4944:0.4251:0.0805	.	172;170	Q5Y7A1;Q16570	.;DUFFY_HUMAN	I	170;170;170;172	ENSP00000357104:T170I;ENSP00000441985:T170I;ENSP00000357103:T172I	ENSP00000352341:T170I	T	+	2	0	DARC	157442362	0.000000	0.05858	0.026000	0.17262	0.014000	0.08584	0.255000	0.18333	0.021000	0.15133	0.561000	0.74099	ACT		0.627	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			T	159175738	C	T	159175738	3	4	259	1	0	0	0	0	1	0	0	0	4240	565	20	2	542	2	DARC	1	159175738	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	560752	159175738	90074883	9	14250											
CEP350	9857	genome.wustl.edu	37	1	180062112	180062112	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:180062112A>T	ENST00000367607.3	+	34	7290	c.6872A>T	c.(6871-6873)cAg>cTg	p.Q2291L	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2291					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTCCTAGAACAGGGAGATTCA	0.303																																																0			1											16	17	17					1																	180062112		2192	4290	6482	178328735	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6872A>T	1.37:g.180062112A>T	ENSP00000356579:p.Gln2291Leu		178328735	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396626	0.25205	.	.	ENSG00000135837	ENST00000367607	T	0.57595	0.39	5.6	4.44	0.53790	.	0.152597	0.30392	N	0.009737	T	0.36991	0.0987	L	0.29908	0.895	0.25039	N	0.991214	B;B	0.27559	0.001;0.181	B;B	0.24155	0.001;0.051	T	0.17806	-1.0357	9	.	.	.	.	9.6836	0.40085	0.7241:0.0:0.0:0.2758	.	2291;2291	E7EU22;Q5VT06	.;CE350_HUMAN	L	2291	ENSP00000356579:Q2291L	.	Q	+	2	0	CEP350	178328735	1.000000	0.71417	0.997000	0.53966	0.657000	0.38888	1.606000	0.36826	0.892000	0.36259	0.460000	0.39030	CAG		0.303	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		T	180062112	A	T	180062112	3	4	259	1	0	0	0	0	1	0	0	0	3254	188	7	5	7002	5	CEP350	1	180062112	Missense_Mutation	SNP	A	TCGA-24-1843-01A-01W-0639-09	20886374	180062112	69188509	10	14251											
RABIF	5877	genome.wustl.edu	37	1	202850283	202850283	+	Silent	SNP	G	G	A	rs373688472		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:202850283G>A	ENST00000367262.3	-	2	231	c.195C>T	c.(193-195)ctC>ctT	p.L65L		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	65					membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGTGTTCCTGGAGGAGATCGC	0.502																																																0			1						G		0,4406		0,0,2203	73	67	69		195	-2.1	1	1		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RABIF	NM_002871.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		65/124	202850283	1,13005	2203	4300	6503	201116906	SO:0001819	synonymous_variant	5877			S78873	CCDS1428.1	1q32.1	2008-05-14			ENSG00000183155	ENSG00000183155			9797	protein-coding gene	gene with protein product		603417		RASGRF3		9441742, 7619808	Standard	NM_002871		Approved	mss4	uc001gyl.3	P47224	OTTHUMG00000041400	ENST00000367262.3:c.195C>T	1.37:g.202850283G>A			201116906	B2R4P4|Q92992	Silent	SNP	ENST00000367262.3	37	CCDS1428.1																																																																																				0.502	RABIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099183.1			A	202850283	G	A	202850283	2	1	259	1	0	0	0	0	0	0	0	1	12972	1161	41	2		2	RABIF	1	202850283	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	22788171	202850283	46400338	11	14252											
DTL	51514	genome.wustl.edu	37	1	212274368	212274368	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:212274368G>C	ENST00000366991.4	+	14	2350	c.2036G>C	c.(2035-2037)aGt>aCt	p.S679T	DTL_ENST00000542077.1_Missense_Mutation_p.S637T|DTL_ENST00000475419.1_3'UTR|RN7SKP98_ENST00000517070.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	679					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCTCCACGAAGTCCGTCATCC	0.483																																																0			1											44	44	44					1																	212274368		2203	4300	6503	210340991	SO:0001583	missense	51514			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.2036G>C	1.37:g.212274368G>C	ENSP00000355958:p.Ser679Thr		210340991	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227621	0.39399	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.77098	-1.0;-1.07	5.71	4.79	0.61399	.	0.206627	0.56097	D	0.000023	T	0.65606	0.2707	L	0.27053	0.805	0.09310	N	1	P;P;P	0.49253	0.921;0.872;0.872	B;B;B	0.42625	0.393;0.237;0.22	T	0.61426	-0.7065	10	0.59425	D	0.04	-10.3273	8.6992	0.34316	0.078:0.3138:0.6082:0.0	.	637;679;637	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	T	679;637;358	ENSP00000355958:S679T;ENSP00000443870:S637T	ENSP00000355958:S679T	S	+	2	0	DTL	210340991	0.900000	0.30661	0.987000	0.45799	0.985000	0.73830	2.681000	0.46926	1.404000	0.46819	0.655000	0.94253	AGT		0.483	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		C	212274368	G	C	212274368	3	2	259	1	0	0	0	0	1	0	0	0	4787	1029	36	3	2090	3	DTL	1	212274368	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	9424085	212274368	36976253	12	14253											
USH2A	7399	genome.wustl.edu	37	1	215914791	215914791	+	Silent	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:215914791C>A	ENST00000307340.3	-	60	12023	c.11637G>T	c.(11635-11637)ggG>ggT	p.G3879G	USH2A_ENST00000366943.2_Silent_p.G3879G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3879	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCAAGCTGACCCCAGTGCCT	0.383										HNSCC(13;0.011)																																						0			1											136	137	137					1																	215914791		2203	4300	6503	213981414	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11637G>T	1.37:g.215914791C>A			213981414	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	215914791	C	A	215914791	2	1	259	1	0	0	0	0	0	0	0	1	17036	494	18	3		3	USH2A	1	215914791	Silent	SNP	C	TCGA-24-1843-01A-01W-0639-09	3640423	215914791	33335830	13	14254											
OR2G6	391211	genome.wustl.edu	37	1	248685005	248685005	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr1:248685005C>A	ENST00000343414.4	+	1	90	c.58C>A	c.(58-60)Cag>Aag	p.Q20K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTTTCAGATCAGCCTCAGCT	0.443																																																0			1											173	160	164					1																	248685005		2203	4300	6503	246751628	SO:0001583	missense	391211				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.58C>A	1.37:g.248685005C>A	ENSP00000341291:p.Gln20Lys		246751628	B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	10.25	1.297440	0.23650	.	.	ENSG00000188558	ENST00000343414	T	0.00321	8.11	3.83	1.77	0.24775	.	0.774806	0.10862	U	0.625961	T	0.00210	0.0006	L	0.46567	1.45	0.21147	N	0.999771	B	0.02656	0.0	B	0.04013	0.001	T	0.21793	-1.0235	10	0.38643	T	0.18	.	7.4561	0.27268	0.1797:0.6239:0.1963:0.0	.	20	Q5TZ20	OR2G6_HUMAN	K	20	ENSP00000341291:Q20K	ENSP00000341291:Q20K	Q	+	1	0	OR2G6	246751628	0.000000	0.05858	0.917000	0.36280	0.778000	0.44026	-1.071000	0.03437	0.794000	0.33899	0.400000	0.26472	CAG		0.443	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		A	248685005	C	A	248685005	3	1	259	1	0	0	0	0	1	0	0	0	11000	827	29	3	60	3	OR2G6	1	248685005	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	32770214	248685005	565616	14	14255											
CNTNAP5	129684	genome.wustl.edu	37	2	125367492	125367492	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr2:125367492T>A	ENST00000431078.1	+	12	2232	c.1868T>A	c.(1867-1869)aTc>aAc	p.I623N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	623	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACTGCAATATCACTGGTAAG	0.517																																																0			2											62	62	62					2																	125367492		1877	4111	5988	125083962	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1868T>A	2.37:g.125367492T>A	ENSP00000399013:p.Ile623Asn		125083962	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024359	0.54683	.	.	ENSG00000155052	ENST00000431078	T	0.11712	2.75	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.121499	0.34986	N	0.003527	T	0.26268	0.0641	M	0.72118	2.19	0.58432	D	0.999991	D	0.58620	0.983	P	0.54629	0.757	T	0.00742	-1.1585	10	0.59425	D	0.04	.	15.0047	0.71501	0.0:0.0:0.0:1.0	.	623	Q8WYK1	CNTP5_HUMAN	N	623	ENSP00000399013:I623N	ENSP00000399013:I623N	I	+	2	0	CNTNAP5	125083962	1.000000	0.71417	0.985000	0.45067	0.433000	0.31745	7.264000	0.78432	2.279000	0.76181	0.533000	0.62120	ATC		0.517	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125367492	T	A	125367492	3	1	259	1	0	0	0	0	1	0	0	0	3650	1435	50	5	1914	5	CNTNAP5	2	125367492	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09		125367492	117831881	15	14256											
NEB	4703	genome.wustl.edu	37	2	152423804	152423804	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr2:152423804C>T	ENST00000172853.10	-	86	13078	c.12931G>A	c.(12931-12933)Gcc>Acc	p.A4311T	NEB_ENST00000409198.1_Missense_Mutation_p.A4311T|NEB_ENST00000603639.1_Missense_Mutation_p.A6012T|NEB_ENST00000427231.2_Missense_Mutation_p.A6012T|NEB_ENST00000397345.3_Missense_Mutation_p.A6012T|NEB_ENST00000604864.1_Missense_Mutation_p.A6012T			P20929	NEBU_HUMAN	nebulin	4311					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCTGCTTGGCGGCCAAGACT	0.438																																																0			2											170	159	163					2																	152423804		1954	4154	6108	152132050	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12931G>A	2.37:g.152423804C>T	ENSP00000172853:p.Ala4311Thr		152132050	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	27.4	4.829260	0.90955	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	T	0.79137	-0.1927	10	0.87932	D	0	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	4311;742	P20929;Q14215	NEBU_HUMAN;.	T	4311;6012;6012;360;742;4311	ENSP00000386259:A4311T;ENSP00000380505:A6012T;ENSP00000416578:A6012T;ENSP00000410961:A742T;ENSP00000172853:A4311T	ENSP00000172853:A4311T	A	-	1	0	NEB	152132050	1.000000	0.71417	0.970000	0.41538	0.475000	0.33008	5.947000	0.70242	2.850000	0.98022	0.650000	0.86243	GCC		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152423804	C	T	152423804	3	4	259	1	0	0	0	0	1	0	0	0	10302	768	27	1	7928	1	NEB	2	152423804	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	27056312	152423804	90775569	16	14257											
TTN	7273	genome.wustl.edu	37	2	179611945	179611945	+	Intron	SNP	C	C	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr2:179611945C>G	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R5061T|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGGAGTATCTCTCTAGTGT	0.507																																																0			2											68	71	70					2																	179611945		2203	4300	6503	179320190	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5297G>C	2.37:g.179611945C>G			179320190	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.91	2.971940	0.53614	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59224	0.28	5.91	5.91	0.95273	.	.	.	.	.	T	0.66915	0.2838	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.61367	-0.7077	9	0.12766	T	0.61	.	10.5225	0.44927	0.0:0.909:0.0:0.091	.	5061	Q8WZ42-6	.	T	5061;375	ENSP00000354117:R5061T	ENSP00000304714:R375T	R	-	2	0	TTN	179320190	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	2.347000	0.44036	2.809000	0.96659	0.555000	0.69702	AGA		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179611945	C	G	179611945	1	3	259	0	1	0	0	0	0	0	0	0	16735	913	32	3		3	TTN	2	179611945	Intron	SNP	C	TCGA-24-1843-01A-01W-0639-09	27188141	179611945	63587428	17	14258											
HECW2	57520	genome.wustl.edu	37	2	197081766	197081766	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr2:197081766C>G	ENST00000260983.3	-	27	4642	c.4460G>C	c.(4459-4461)aGa>aCa	p.R1487T	HECW2_ENST00000409111.1_Missense_Mutation_p.R1131T|snoU13_ENST00000459047.1_RNA	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1487	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATTGTTGAATCTTTCCACTGC	0.328																																																0			2											186	173	178					2																	197081766		2203	4300	6503	196790011	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4460G>C	2.37:g.197081766C>G	ENSP00000260983:p.Arg1487Thr		196790011	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870734	0.91587	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.41758	0.99;0.99	5.36	5.36	0.76844	HECT (4);	0.148919	0.64402	D	0.000010	T	0.48447	0.1500	N	0.11789	0.175	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.54662	-0.8260	10	0.52906	T	0.07	.	19.2924	0.94105	0.0:1.0:0.0:0.0	.	1487	Q9P2P5	HECW2_HUMAN	T	1131;1487	ENSP00000386775:R1131T;ENSP00000260983:R1487T	ENSP00000260983:R1487T	R	-	2	0	HECW2	196790011	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.320000	0.79064	2.783000	0.95769	0.655000	0.94253	AGA		0.328	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		G	197081766	C	G	197081766	3	3	259	1	0	0	0	0	1	0	0	0	7043	913	32	3	270	3	HECW2	2	197081766	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	17469821	197081766	46117607	18	14259											
COL6A3	1293	genome.wustl.edu	37	2	238275651	238275651	+	Missense_Mutation	SNP	G	G	A	rs143074017		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr2:238275651G>A	ENST00000295550.4	-	11	5631	c.5179C>T	c.(5179-5181)Cgg>Tgg	p.R1727W	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1521W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1521W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1120W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1526W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1527W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1727	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGTTTACCCGCAGGTGCTCA	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		19992	0		0	False		,,,				2504	0															0			2						G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	77	68	71		5179,3358,4561	-0.1	0.3	2	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	101,101,101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	1727/3178,1120/2571,1521/2972	238275651	4,13002	2203	4300	6503	237940390	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5179C>T	2.37:g.238275651G>A	ENSP00000295550:p.Arg1727Trp		237940390	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.27	1.302823	0.23736	0.0	4.65E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.56	-0.141	0.13452	von Willebrand factor, type A (3);	0.819529	0.10316	N	0.689400	D	0.89210	0.6650	M	0.64404	1.975	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.75484	0.986;0.982;0.761	T	0.82123	-0.0613	10	0.40728	T	0.16	.	16.7926	0.85593	0.0:0.0:0.361:0.639	.	1120;1521;1727	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	W	1727;1526;1521;1120;1521;1527	ENSP00000295550:R1727W;ENSP00000315609:R1526W;ENSP00000315873:R1521W;ENSP00000418285:R1120W;ENSP00000386844:R1521W;ENSP00000295546:R1527W	ENSP00000295550:R1727W	R	-	1	2	COL6A3	237940390	0.970000	0.33590	0.340000	0.25575	0.317000	0.28152	1.684000	0.37649	0.257000	0.21650	0.650000	0.86243	CGG		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238275651	G	A	238275651	3	1	259	1	0	0	0	0	1	0	0	0	3701	1086	38	1	4490	1	COL6A3	2	238275651	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	41193885	238275651	4923722	19	14260											
ROBO1	6091	genome.wustl.edu	37	3	78766435	78766435	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr3:78766435G>A	ENST00000464233.1	-	7	1020	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	ROBO1_ENST00000436010.2_Missense_Mutation_p.P264S|ROBO1_ENST00000467549.1_Missense_Mutation_p.P264S|ROBO1_ENST00000495273.1_Missense_Mutation_p.P264S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	303	Ig-like C2-type 3.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTGGATTTGGGCAGCTCTCCA	0.448																																																0			3											259	254	256					3																	78766435		1985	4152	6137	78849125	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.907C>T	3.37:g.78766435G>A	ENSP00000420321:p.Pro303Ser		78849125	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731102	0.89390	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	N	0.16130	0.375	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.999	D;D;D;D	0.97110	0.971;1.0;0.971;0.95	T	0.65772	-0.6087	9	.	.	.	.	19.4858	0.95028	0.0:0.0:1.0:0.0	.	303;264;264;264	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	S	264;264;303;264;264;303	ENSP00000406043:P264S;ENSP00000420321:P303S;ENSP00000420637:P264S;ENSP00000417992:P264S	.	P	-	1	0	ROBO1	78849125	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.230000	0.95299	2.607000	0.88179	0.462000	0.41574	CCC		0.448	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78766435	G	A	78766435	3	1	259	1	0	0	0	0	1	0	0	0	13516	1203	42	2	4161	2	ROBO1	3	78766435	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09		78766435	119255995	20	14261											
DTX3L	151636	genome.wustl.edu	37	3	122287634	122287634	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr3:122287634G>C	ENST00000296161.4	+	3	887	c.698G>C	c.(697-699)aGc>aCc	p.S233T	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	233					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAACAAAAAAGCAACTATTTT	0.383																																																0			3											58	59	59					3																	122287634		2203	4300	6503	123770324	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.698G>C	3.37:g.122287634G>C	ENSP00000296161:p.Ser233Thr		123770324	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	8.506	0.865372	0.17250	.	.	ENSG00000163840	ENST00000296161	T	0.32988	1.43	5.04	-0.256	0.12984	.	1.205510	0.05915	N	0.632431	T	0.25568	0.0622	L	0.60455	1.87	0.09310	N	1	B	0.27559	0.181	B	0.22880	0.042	T	0.33033	-0.9884	10	0.49607	T	0.09	-21.1	1.1161	0.01714	0.2706:0.3057:0.2826:0.1411	.	233	Q8TDB6	DTX3L_HUMAN	T	233	ENSP00000296161:S233T	ENSP00000296161:S233T	S	+	2	0	DTX3L	123770324	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-0.109000	0.10840	0.031000	0.15407	0.655000	0.94253	AGC		0.383	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		C	122287634	G	C	122287634	3	2	259	1	0	0	0	0	1	0	0	0	4796	971	34	3	708	3	DTX3L	3	122287634	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	43521199	122287634	75734796	21	14262											
ASTE1	28990	genome.wustl.edu	37	3	130743962	130743962	+	Missense_Mutation	SNP	G	G	T	rs200808262		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr3:130743962G>T	ENST00000264992.3	-	3	630	c.189C>A	c.(187-189)ttC>ttA	p.F63L	NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000511262.1_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.F63L|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000510688.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	63					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GTGATTCAAAGAATTTTTGTA	0.363																																																0			3											90	83	85					3																	130743962		2203	4300	6503	132226652	SO:0001583	missense	28990			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.189C>A	3.37:g.130743962G>T	ENSP00000264992:p.Phe63Leu		132226652	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317860	0.40996	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	T;T	0.62498	0.02;0.02	5.44	2.56	0.30785	XPG N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.86953	2.85	0.44181	D	0.996995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76377	-0.2981	10	0.48119	T	0.1	-24.158	8.3714	0.32417	0.3474:0.0:0.6526:0.0	.	63;63	D6RG30;Q2TB18	.;ASTE1_HUMAN	L	63	ENSP00000426421:F63L;ENSP00000264992:F63L	ENSP00000264992:F63L	F	-	3	2	ASTE1	132226652	0.999000	0.42202	0.994000	0.49952	0.118000	0.20060	0.496000	0.22499	0.602000	0.29896	-0.145000	0.13849	TTC		0.363	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		T	130743962	G	T	130743962	3	4	259	1	0	0	0	0	1	0	0	0	1062	933	33	3	1866	3	ASTE1	3	130743962	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	8456328	130743962	67278468	22	14263											
TM4SF1	4071	genome.wustl.edu	37	3	149093268	149093268	+	Silent	SNP	G	G	A	rs147261725		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr3:149093268G>A	ENST00000305366.3	-	3	692	c.375C>T	c.(373-375)ctC>ctT	p.L125L	TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1-AS1_ENST00000496491.1_RNA|TM4SF1_ENST00000472441.1_Silent_p.L36L	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	125						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCCACTGGCCGAGGGAATCAA	0.478																																																0			3						G		0,4406		0,0,2203	98	88	91		375	-11.5	0	3	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TM4SF1	NM_014220.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		125/203	149093268	3,13003	2203	4300	6503	150575958	SO:0001819	synonymous_variant	4071			M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"transmembrane 4 superfamily member 1"	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.375C>T	3.37:g.149093268G>A			150575958	Q6IB51	Silent	SNP	ENST00000305366.3	37	CCDS3143.1																																																																																				0.478	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			A	149093268	G	A	149093268	2	1	259	1	0	0	0	0	0	0	0	1	15966	1045	37	1		1	TM4SF1	3	149093268	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	18349306	149093268	48929162	23	14264											
GFM1	85476	genome.wustl.edu	37	3	158364654	158364654	+	Missense_Mutation	SNP	C	C	T	rs182569165		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr3:158364654C>T	ENST00000486715.1	+	4	847	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	GFM1_ENST00000264263.5_Missense_Mutation_p.R164C|GFM1_ENST00000478576.1_Missense_Mutation_p.R164C	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCAGATGAAGCGCTACAACGT	0.498													C|||	1	0.000199681	0	0	5008	,	,		16618	0.001		0	False		,,,				2504	0															0			3						C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	174	150	158		490	5.9	1	3		158	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GFM1	NM_024996.5	180	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	164/752	158364654	3,13003	2203	4300	6503	159847348	SO:0001583	missense	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.490C>T	3.37:g.158364654C>T	ENSP00000419038:p.Arg164Cys		159847348		Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	25.7	4.667346	0.88348	2.27E-4	2.33E-4	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.71579	-0.58;-0.58;-0.58	5.86	5.86	0.93980	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	H	0.99659	4.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94568	0.7768	10	0.87932	D	0	-11.2891	15.027	0.71677	0.1421:0.8579:0.0:0.0	.	164;164;164	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	164	ENSP00000419038:R164C;ENSP00000418755:R164C;ENSP00000264263:R164C	ENSP00000264263:R164C	R	+	1	0	GFM1	159847348	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.561000	0.67339	2.784000	0.95788	0.644000	0.83932	CGC		0.498	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		T	158364654	C	T	158364654	3	4	259	1	0	0	0	0	1	0	0	0	6341	768	27	1	504	1	GFM1	3	158364654	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	9271386	158364654	39657776	24	14265											
TFRC	7037	genome.wustl.edu	37	3	195779029	195779029	+	Silent	SNP	G	G	A	rs199652297		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr3:195779029G>A	ENST00000360110.4	-	19	2236	c.2067C>T	c.(2065-2067)taC>taT	p.Y689Y	TFRC_ENST00000420415.1_Silent_p.Y608Y|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.Y407Y|TFRC_ENST00000392396.3_Silent_p.Y689Y	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	689	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TTGGAGATACGTAGGGAGAGA	0.448			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0			3											55	58	57					3																	195779029		2203	4300	6503	197263426	SO:0001819	synonymous_variant	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2067C>T	3.37:g.195779029G>A			197263426	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	CCDS3312.1																																																																																				0.448	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			A	195779029	G	A	195779029	2	1	259	1	0	0	0	0	0	0	0	1	15812	1140	40	1		1	TFRC	3	195779029	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	37414375	195779029	2243401	25	14266											
TLR1	7096	genome.wustl.edu	37	4	38798936	38798936	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr4:38798936G>A	ENST00000502213.2	-	3	1746	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	TLR1_ENST00000308979.2_Missense_Mutation_p.S506L|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	506					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GAAATCAGCCGATGGGTGGGA	0.418																																					GBM(5;216 373 40795 46382)											0			4											74	77	76					4																	38798936		2202	4280	6482	38475331	SO:0001583	missense	7096			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1517C>T	4.37:g.38798936G>A	ENSP00000421259:p.Ser506Leu		38475331	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984061	0.53827	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.18174	2.23;2.23	4.75	4.75	0.60458	.	0.104218	0.42053	D	0.000769	T	0.46927	0.1418	M	0.89715	3.055	0.47214	D	0.999357	D	0.69078	0.997	P	0.58928	0.848	T	0.59637	-0.7417	10	0.87932	D	0	.	18.3059	0.90180	0.0:0.0:1.0:0.0	.	506	Q15399	TLR1_HUMAN	L	506	ENSP00000354932:S506L;ENSP00000421259:S506L	ENSP00000354932:S506L	S	-	2	0	TLR1	38475331	1.000000	0.71417	0.906000	0.35671	0.172000	0.22775	4.535000	0.60629	2.636000	0.89361	0.650000	0.86243	TCG		0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			A	38798936	G	A	38798936	3	1	259	1	0	0	0	0	1	0	0	0	15949	1059	37	1	847	1	TLR1	4	38798936	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09		38798936	152355340	26	14267											
TLR1	7096	genome.wustl.edu	37	4	38800400	38800400	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr4:38800400C>A	ENST00000502213.2	-	3	282	c.53G>T	c.(52-54)aGa>aTa	p.R18I	TLR1_ENST00000308979.2_Missense_Mutation_p.R18I			Q15399	TLR1_HUMAN	toll-like receptor 1	18					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TAATTGTATTCTGATCTGAAG	0.338																																					GBM(5;216 373 40795 46382)											0			4											41	44	43					4																	38800400		2193	4292	6485	38476795	SO:0001583	missense	7096			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.53G>T	4.37:g.38800400C>A	ENSP00000421259:p.Arg18Ile		38476795	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	8.914	0.959348	0.18507	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940;ENST00000515861;ENST00000506146;ENST00000508364	T;T;T;T;T	0.44881	4.58;4.58;1.32;2.26;0.91	5.09	0.702	0.18110	.	1.163120	0.06173	N	0.678113	T	0.25531	0.0621	N	0.20766	0.605	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21793	-1.0235	10	0.34782	T	0.22	.	3.529	0.07770	0.2565:0.2756:0.0:0.468	.	18	Q15399	TLR1_HUMAN	I	18	ENSP00000354932:R18I;ENSP00000421259:R18I;ENSP00000421856:R18I;ENSP00000423017:R18I;ENSP00000423725:R18I	ENSP00000354932:R18I	R	-	2	0	TLR1	38476795	0.000000	0.05858	0.061000	0.19648	0.230000	0.25150	0.057000	0.14279	0.289000	0.22422	0.655000	0.94253	AGA		0.338	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			A	38800400	C	A	38800400	3	1	259	1	0	0	0	0	1	0	0	0	15949	913	32	3	2311	3	TLR1	4	38800400	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	1464	38800400	152353876	27	14268											
PPP3CA	5530	genome.wustl.edu	37	4	101961685	101961685	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr4:101961685T>G	ENST00000394854.3	-	11	1878	c.1195A>C	c.(1195-1197)Aag>Cag	p.K399Q	PPP3CA_ENST00000507176.1_Missense_Mutation_p.K301Q|PPP3CA_ENST00000512215.1_Missense_Mutation_p.K167Q|PPP3CA_ENST00000394853.4_Missense_Mutation_p.K399Q|PPP3CA_ENST00000323055.6_Missense_Mutation_p.K357Q|PPP3CA_ENST00000523694.2_Missense_Mutation_p.K332Q	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	399	Calmodulin-binding. {ECO:0000255}.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCTCGGATCTTGTTCCTTATC	0.393																																																0			4											231	175	194					4																	101961685		2203	4300	6503	102180708	SO:0001583	missense	5530				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1195A>C	4.37:g.101961685T>G	ENSP00000378323:p.Lys399Gln		102180708	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	32	5.160160	0.94727	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32	5.9	5.9	0.94986	.	0.107337	0.64402	D	0.000010	T	0.31544	0.0800	M	0.89968	3.075	0.80722	D	1	D;D;P;D;P;D	0.65815	0.991;0.994;0.956;0.995;0.605;0.978	P;D;P;P;P;P	0.69142	0.801;0.962;0.872;0.902;0.53;0.701	T	0.20207	-1.0282	10	0.87932	D	0	-20.1671	15.3148	0.74065	0.0:0.0:0.0:1.0	.	399;167;357;399;301;332	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	Q	167;399;357;399;301;332	ENSP00000422781:K167Q;ENSP00000378323:K399Q;ENSP00000320580:K357Q;ENSP00000378322:K399Q;ENSP00000422990:K301Q;ENSP00000429350:K332Q	ENSP00000320580:K357Q	K	-	1	0	PPP3CA	102180708	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.237000	0.78164	2.251000	0.74343	0.528000	0.53228	AAG		0.393	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		G	101961685	T	G	101961685	3	3	259	1	0	0	0	0	1	0	0	0	12400	1821	63	5	386	5	PPP3CA	4	101961685	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09	63161285	101961685	89192591	28	14269											
DDX60L	91351	genome.wustl.edu	37	4	169337873	169337873	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr4:169337873C>A	ENST00000511577.1	-	20	2933	c.2686G>T	c.(2686-2688)Gtt>Ttt	p.V896F	DDX60L_ENST00000505890.1_Missense_Mutation_p.V896F|DDX60L_ENST00000260184.7_Missense_Mutation_p.V896F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	896	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GCTGAAAGAACCAAAAAGGGA	0.353																																																0			4											99	97	97					4																	169337873		1849	4128	5977	169574448	SO:0001583	missense	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2686G>T	4.37:g.169337873C>A	ENSP00000422423:p.Val896Phe		169574448	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	C	14.20	2.465588	0.43839	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.34859	2.21;2.21;1.34;1.34	3.23	0.212	0.15240	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.206637	0.22655	U	0.057267	T	0.23965	0.0580	N	0.02751	-0.505	0.23101	N	0.998295	D;D;D	0.64830	0.99;0.994;0.99	P;P;P	0.61658	0.761;0.892;0.761	T	0.13229	-1.0517	10	0.87932	D	0	.	3.2604	0.06846	0.175:0.554:0.1699:0.1011	.	896;896;896	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	F	896;896;896;592	ENSP00000260184:V896F;ENSP00000422423:V896F;ENSP00000422202:V896F;ENSP00000421026:V592F	ENSP00000260184:V896F	V	-	1	0	DDX60L	169574448	0.998000	0.40836	0.034000	0.17996	0.803000	0.45373	2.058000	0.41374	-0.299000	0.08909	-0.464000	0.05259	GTT		0.353	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		A	169337873	C	A	169337873	3	1	259	1	0	0	0	0	1	0	0	0	4379	507	18	3	2510	3	DDX60L	4	169337873	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	67376188	169337873	21816403	29	14270											
ITGA2	3673	genome.wustl.edu	37	5	52363081	52363081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr5:52363081C>T	ENST00000296585.5	+	16	2220	c.2077C>T	c.(2077-2079)Caa>Taa	p.Q693*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	693					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCAAAACAATCAAGTGGGTGC	0.358																																																0			5											79	76	77					5																	52363081		2202	4300	6502	52398838	SO:0001587	stop_gained	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2077C>T	5.37:g.52363081C>T	ENSP00000296585:p.Gln693*		52398838	Q14595	Nonsense_Mutation	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	37	6.489328	0.97607	.	.	ENSG00000164171	ENST00000296585	.	.	.	5.09	5.09	0.68999	.	0.381500	0.27966	N	0.017130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	11.9411	0.52901	0.0:0.9207:0.0:0.0793	.	.	.	.	X	693	.	ENSP00000296585:Q693X	Q	+	1	0	ITGA2	52398838	0.902000	0.30710	0.868000	0.34077	0.819000	0.46315	1.908000	0.39907	2.382000	0.81193	0.655000	0.94253	CAA		0.358	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		T	52363081	C	T	52363081	4	4	259	1	0	0	0	0	0	1	0	0	7875	827	29	2	2139	2	ITGA2	5	52363081	Nonsense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09		52363081	128552179	30	14271											
PCDHA13	56136	genome.wustl.edu	37	5	140263296	140263296	+	Silent	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr5:140263296C>T	ENST00000289272.2	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.D481D|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGGACGCGGACGCAC	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)											0			5											72	73	72					5																	140263296		2203	4300	6503	140243480	SO:0001819	synonymous_variant	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1443C>T	5.37:g.140263296C>T			140243480	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																				0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140263296	C	T	140263296	2	4	259	1	0	0	0	0	0	0	0	1	11523	535	19	1		1	PCDHA13	5	140263296	Silent	SNP	C	TCGA-24-1843-01A-01W-0639-09	87900215	140263296	40651964	31	14272											
FAT2	2196	genome.wustl.edu	37	5	150931114	150931114	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr5:150931114T>G	ENST00000261800.5	-	6	4222	c.4210A>C	c.(4210-4212)Att>Ctt	p.I1404L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1404	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTGGCAATGACGATGCTG	0.522																																																0			5											194	163	173					5																	150931114		2203	4300	6503	150911307	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4210A>C	5.37:g.150931114T>G	ENSP00000261800:p.Ile1404Leu		150911307	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161176	0.78226	.	.	ENSG00000086570	ENST00000261800	T	0.47177	0.85	5.43	5.43	0.79202	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000009	T	0.47581	0.1453	L	0.28740	0.885	0.37921	D	0.931709	D	0.61697	0.99	D	0.63877	0.919	T	0.46331	-0.9199	10	0.07644	T	0.81	.	9.915	0.41427	0.0:0.0759:0.0:0.9241	.	1404	Q9NYQ8	FAT2_HUMAN	L	1404	ENSP00000261800:I1404L	ENSP00000261800:I1404L	I	-	1	0	FAT2	150911307	1.000000	0.71417	0.886000	0.34754	0.881000	0.50899	3.065000	0.49994	2.053000	0.61076	0.459000	0.35465	ATT		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150931114	T	G	150931114	3	3	259	1	0	0	0	0	1	0	0	0	5690	1464	51	5	8911	5	FAT2	5	150931114	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09	10667818	150931114	29984146	32	14273											
BTNL2	56244	genome.wustl.edu	37	6	32370751	32370751	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr6:32370751C>T	ENST00000374993.1	-	3	669	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.V224I|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	224	Ig-like V-type 2.					integral component of membrane (GO:0016021)		p.V224I(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCAGTGAGGACGGGGTTGTGG	0.592																																																1	Substitution - Missense(1)	large_intestine(1)	6											73	61	65					6																	32370751		1511	2708	4219	32478729	SO:0001583	missense	56244			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.670G>A	6.37:g.32370751C>T	ENSP00000364132:p.Val224Ile		32478729	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37		.	.	.	.	.	.	.	.	.	.	C	1.530	-0.544595	0.04024	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.75589	-0.95	4.71	-5.73	0.02398	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.451450	0.04328	N	0.351912	T	0.18718	0.0449	N	0.05487	-0.04	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.06570	-1.0819	10	0.07482	T	0.82	.	1.9694	0.03402	0.1228:0.378:0.2442:0.255	.	224	Q9UIR0	BTNL2_HUMAN	I	224	ENSP00000364132:V224I	ENSP00000364132:V224I	V	-	1	0	BTNL2	32478729	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-2.170000	0.01268	-0.689000	0.05149	-0.172000	0.13284	GTC		0.592	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		T	32370751	C	T	32370751	3	4	259	1	0	0	0	0	1	0	0	0	1565	536	19	1	713	1	BTNL2	6	32370751	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09		32370751	138744316	33	14274											
DNAH8	1769	genome.wustl.edu	37	6	38942236	38942236	+	Silent	SNP	G	G	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr6:38942236G>C	ENST00000359357.3	+	83	12368	c.12114G>C	c.(12112-12114)ctG>ctC	p.L4038L	DNAH8_ENST00000441566.1_Silent_p.L4002L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4038	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGACCTTCTGGACATCAGTA	0.423																																																0			6											96	87	90					6																	38942236		2203	4300	6503	39050214	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12114G>C	6.37:g.38942236G>C			39050214	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																					0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38942236	G	C	38942236	2	2	259	1	0	0	0	0	0	0	0	1	4607	1335	47	3		3	DNAH8	6	38942236	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	6571485	38942236	132172831	34	14275											
BACH2	60468	genome.wustl.edu	37	6	90660241	90660241	+	Silent	SNP	G	G	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr6:90660241G>A	ENST00000257749.4	-	7	2291	c.1584C>T	c.(1582-1584)taC>taT	p.Y528Y	BACH2_ENST00000537989.1_Silent_p.Y528Y|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Silent_p.Y528Y|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	528						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGTCCTCCGCGTAGGAATAGG	0.627																																																0			6											55	59	58					6																	90660241		2203	4300	6503	90716962	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1584C>T	6.37:g.90660241G>A			90716962	E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	CCDS5026.1																																																																																				0.627	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		A	90660241	G	A	90660241	2	1	259	1	0	0	0	0	0	0	0	1	1284	1140	40	1		1	BACH2	6	90660241	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	51718005	90660241	80454826	35	14276											
EPB41L2	2037	genome.wustl.edu	37	6	131222297	131222297	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr6:131222297C>G	ENST00000337057.3	-	7	1134	c.953G>C	c.(952-954)cGg>cCg	p.R318P	EPB41L2_ENST00000392427.3_Missense_Mutation_p.R318P|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R318P|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R318P|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R318P|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R318P|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R318P|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R318P|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R318P|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R318P|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R318P	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	318	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AATGTCCTGCCGGAGCTGAAG	0.537																																																0			6											68	70	69					6																	131222297		2203	4300	6503	131263990	SO:0001583	missense	2037			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.953G>C	6.37:g.131222297C>G	ENSP00000338481:p.Arg318Pro		131263990	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076732	0.94000	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.23	5.23	0.72850	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.91307	0.7259	H	0.97896	4.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.94191	0.7441	10	0.87932	D	0	.	19.1731	0.93588	0.0:1.0:0.0:0.0	.	318;318;318;318;318	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	P	318	ENSP00000434308:R318P;ENSP00000434576:R318P;ENSP00000402041:R318P;ENSP00000338481:R318P;ENSP00000376222:R318P;ENSP00000357110:R318P;ENSP00000436348:R318P;ENSP00000432803:R318P;ENSP00000431988:R318P;ENSP00000431647:R318P;ENSP00000436641:R318P	ENSP00000338481:R318P	R	-	2	0	EPB41L2	131263990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.613000	0.88420	0.655000	0.94253	CGG		0.537	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			G	131222297	C	G	131222297	3	3	259	1	0	0	0	0	1	0	0	0	5153	652	23	3	2116	3	EPB41L2	6	131222297	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	40562056	131222297	39892770	36	14277											
LPA	4018	genome.wustl.edu	37	6	161012006	161012006	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr6:161012006G>T	ENST00000316300.5	-	23	3801	c.3757C>A	c.(3757-3759)Ctt>Att	p.L1253I	LPA_ENST00000447678.1_Missense_Mutation_p.L1253I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3761	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GACGTCGCAAGGACACTTGAT	0.468																																																0			6											111	112	112					6																	161012006		2185	4296	6481	160931996	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3757C>A	6.37:g.161012006G>T	ENSP00000321334:p.Leu1253Ile		160931996	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	7.665	0.685815	0.14973	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62941	-0.01;-0.01	1.25	-2.49	0.06403	Kringle-like fold (1);	.	.	.	.	T	0.49098	0.1537	L	0.49350	1.555	0.09310	N	1	B	0.22146	0.065	P	0.55303	0.773	T	0.66240	-0.5973	9	0.16420	T	0.52	.	3.3099	0.07014	0.27:0.4424:0.2876:0.0	.	3761	P08519	APOA_HUMAN	I	1253	ENSP00000321334:L1253I;ENSP00000395608:L1253I	ENSP00000321334:L1253I	L	-	1	0	LPA	160931996	0.000000	0.05858	0.001000	0.08648	0.106000	0.19336	-0.153000	0.10144	-0.557000	0.06126	0.205000	0.17691	CTT		0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	161012006	G	T	161012006	3	4	259	1	0	0	0	0	1	0	0	0	8903	1000	35	3	2433	3	LPA	6	161012006	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	29789709	161012006	10103061	37	14278											
SMOC2	64094	genome.wustl.edu	37	6	168949821	168949821	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr6:168949821G>A	ENST00000356284.2	+	7	795	c.575G>A	c.(574-576)cGt>cAt	p.R192H	SMOC2_ENST00000354536.5_Missense_Mutation_p.R203H	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	192					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ATTGCATCACGTTACCCTACC	0.398																																																0			6											184	155	165					6																	168949821		2203	4300	6503	168692670	SO:0001583	missense	64094			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.575G>A	6.37:g.168949821G>A	ENSP00000348630:p.Arg192His		168692670	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.219582	0.39201	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.36699	1.24;1.28	5.02	5.02	0.67125	.	0.070353	0.64402	D	0.000020	T	0.15912	0.0383	N	0.08118	0	0.36204	D	0.850894	D;D	0.64830	0.98;0.994	B;P	0.48454	0.443;0.578	T	0.04579	-1.0941	10	0.34782	T	0.22	-20.4308	15.5789	0.76418	0.0:0.0:1.0:0.0	.	192;203	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	H	192;203;192	ENSP00000348630:R192H;ENSP00000346537:R203H	ENSP00000346537:R203H	R	+	2	0	SMOC2	168692670	1.000000	0.71417	0.496000	0.27539	0.015000	0.08874	4.978000	0.63799	2.327000	0.79052	0.650000	0.86243	CGT		0.398	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			A	168949821	G	A	168949821	3	1	259	1	0	0	0	0	1	0	0	0	14805	1145	40	1	634	1	SMOC2	6	168949821	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	7937815	168949821	2165246	38	14279											
ZNF479	90827	genome.wustl.edu	37	7	57188294	57188294	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr7:57188294T>A	ENST00000331162.4	-	5	1098	c.828A>T	c.(826-828)caA>caT	p.Q276H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCCTAAAGGCTTGGCCACATT	0.458																																																0			7											38	39	39					7																	57188294		2102	4230	6332	57192236	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.828A>T	7.37:g.57188294T>A	ENSP00000333776:p.Gln276His		57192236		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	12.34	1.908947	0.33721	.	.	ENSG00000185177	ENST00000331162	T	0.35973	1.28	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30070	0.0753	N	0.17379	0.485	0.09310	N	1	P	0.47484	0.896	P	0.52267	0.694	T	0.13019	-1.0525	9	0.87932	D	0	.	5.8565	0.18722	0.0:0.0:0.0:1.0	.	276	Q96JC4	ZN479_HUMAN	H	276	ENSP00000333776:Q276H	ENSP00000333776:Q276H	Q	-	3	2	ZNF479	57192236	0.004000	0.15560	0.101000	0.21167	0.097000	0.18754	0.306000	0.19279	0.384000	0.24942	0.374000	0.22700	CAA		0.458	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		A	57188294	T	A	57188294	3	1	259	1	0	0	0	0	1	0	0	0	17933	1606	56	5	750	5	ZNF479	7	57188294	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09		57188294	101950369	39	14280											
LRRN3	54674	genome.wustl.edu	37	7	110763525	110763525	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr7:110763525G>T	ENST00000422987.3	+	2	1528	c.697G>T	c.(697-699)Gtt>Ttt	p.V233F	LRRN3_ENST00000308478.5_Missense_Mutation_p.V233F|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.V233F|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	233					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAACGCCTTGGTTGGACTGGA	0.358																																																0			7											66	68	67					7																	110763525		2203	4299	6502	110550761	SO:0001583	missense	54674			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.697G>T	7.37:g.110763525G>T	ENSP00000412417:p.Val233Phe		110550761	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669095	0.29604	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.96	5.08	0.68730	.	0.509087	0.17874	N	0.159092	T	0.37705	0.1013	L	0.45422	1.42	0.24853	N	0.992391	P	0.39022	0.655	B	0.34536	0.185	T	0.23119	-1.0197	10	0.10377	T	0.69	.	9.5162	0.39106	0.0707:0.0:0.7862:0.143	.	233	Q9H3W5	LRRN3_HUMAN	F	233	ENSP00000312001:V233F;ENSP00000397312:V233F;ENSP00000412417:V233F;ENSP00000407927:V233F	ENSP00000312001:V233F	V	+	1	0	LRRN3	110550761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.980000	0.49321	2.831000	0.97527	0.650000	0.86243	GTT		0.358	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		T	110763525	G	T	110763525	3	4	259	1	0	0	0	0	1	0	0	0	9036	1261	44	3	699	3	LRRN3	7	110763525	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	53575231	110763525	48375138	40	14281											
PTPRZ1	5803	genome.wustl.edu	37	7	121650508	121650508	+	Missense_Mutation	SNP	A	A	T	rs149926989	byFrequency	TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr7:121650508A>T	ENST00000393386.2	+	12	1819	c.1408A>T	c.(1408-1410)Ata>Tta	p.I470L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I470L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	470					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTACAATCGCATAGGGACGAA	0.428													A|||	3	0.000599042	0	0.0014	5008	,	,		18604	0		0.002	False		,,,				2504	0															0			7						A	LEU/ILE,LEU/ILE,LEU/ILE	2,4404	4.2+/-10.8	0,2,2201	149	131	137		1408,1408,1408	-3.2	0	7	dbSNP_134	137	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	5,5,5	0,6,6497	TT,TA,AA		0.0465,0.0454,0.0461	benign,benign,benign	470/1456,470/1449,470/2316	121650508	6,13000	2203	4300	6503	121437744	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1408A>T	7.37:g.121650508A>T	ENSP00000377047:p.Ile470Leu		121437744	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	7.567	0.666017	0.14710	4.54E-4	4.65E-4	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.41065	1.05;1.01	5.61	-3.2	0.05156	.	1.023730	0.07717	N	0.943075	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22521	-1.0214	10	0.32370	T	0.25	.	12.3683	0.55240	0.7036:0.0:0.2964:0.0	.	470;470	C9JFM0;P23471	.;PTPRZ_HUMAN	L	470	ENSP00000377047:I470L;ENSP00000410000:I470L	ENSP00000377047:I470L	I	+	1	0	PTPRZ1	121437744	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.116000	0.10724	-0.604000	0.05760	-0.256000	0.11100	ATA		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121650508	A	T	121650508	3	4	259	1	0	0	0	0	1	0	0	0	12817	217	8	5	1454	5	PTPRZ1	7	121650508	Missense_Mutation	SNP	A	TCGA-24-1843-01A-01W-0639-09	10886983	121650508	37488155	41	14282											
SPAM1	6677	genome.wustl.edu	37	7	123599782	123599782	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr7:123599782C>T	ENST00000439500.1	+	6	1902	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	SPAM1_ENST00000340011.5_Missense_Mutation_p.S430F|SPAM1_ENST00000402183.2_Missense_Mutation_p.S430F|SPAM1_ENST00000223028.7_Missense_Mutation_p.S430F|SPAM1_ENST00000460182.1_Missense_Mutation_p.S430F	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	430					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGCAATTTTCTGAAAAATTT	0.393																																																0			7											98	98	98					7																	123599782		2203	4300	6503	123387018	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1289C>T	7.37:g.123599782C>T	ENSP00000402123:p.Ser430Phe		123387018	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330838	0.60853	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.86	4.98	0.66077	.	0.695085	0.14573	N	0.311307	T	0.63141	0.2486	M	0.83692	2.655	0.24479	N	0.994351	D;D	0.54964	0.969;0.969	P;P	0.54706	0.759;0.759	T	0.59516	-0.7440	10	0.72032	D	0.01	-10.9536	9.323	0.37975	0.1472:0.7745:0.0:0.0783	.	430;430	Q8TC30;P38567	.;HYALP_HUMAN	F	430	ENSP00000386028:S430F;ENSP00000417934:S430F;ENSP00000345849:S430F;ENSP00000402123:S430F;ENSP00000223028:S430F	ENSP00000223028:S430F	S	+	2	0	SPAM1	123387018	0.082000	0.21442	0.020000	0.16555	0.006000	0.05464	1.119000	0.31258	1.611000	0.50210	-0.175000	0.13238	TCT		0.393	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			T	123599782	C	T	123599782	3	4	259	1	0	0	0	0	1	0	0	0	14989	913	32	2	1299	2	SPAM1	7	123599782	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	1949274	123599782	35538881	42	14283											
CSMD3	114788	genome.wustl.edu	37	8	113275967	113275967	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr8:113275967T>C	ENST00000297405.5	-	61	10007	c.9763A>G	c.(9763-9765)Att>Gtt	p.I3255V	CSMD3_ENST00000343508.3_Missense_Mutation_p.I3215V|CSMD3_ENST00000352409.3_Missense_Mutation_p.I3185V|CSMD3_ENST00000455883.2_Missense_Mutation_p.I3086V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3255	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGTAGCTAATACTAAAGCCC	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											110	93	99					8																	113275967		2203	4300	6503	113345143	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9763A>G	8.37:g.113275967T>C	ENSP00000297405:p.Ile3255Val		113345143	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	4.710	0.131939	0.08981	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.76	4.6	0.57074	Complement control module (2);Sushi/SCR/CCP (3);	0.075518	0.56097	D	0.000040	T	0.25791	0.0628	N	0.01809	-0.71	0.41583	D	0.988756	B;B;P	0.35575	0.001;0.002;0.51	B;B;B	0.34242	0.009;0.013;0.178	T	0.36553	-0.9743	10	0.02654	T	1	.	11.9393	0.52892	0.0:0.0676:0.0:0.9324	.	3086;3255;3215	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3215;3255;2525;3086;3185	ENSP00000345799:I3215V;ENSP00000297405:I3255V;ENSP00000341558:I2525V;ENSP00000412263:I3086V;ENSP00000343124:I3185V	ENSP00000297405:I3255V	I	-	1	0	CSMD3	113345143	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.156000	0.50708	1.007000	0.39238	-0.263000	0.10527	ATT		0.468	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113275967	T	C	113275967	3	2	259	1	0	0	0	0	1	0	0	0	3946	1406	49	4	1404	4	CSMD3	8	113275967	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09		113275967	33088055	43	14284											
VPS13A	23230	genome.wustl.edu	37	9	79984213	79984213	+	Splice_Site	SNP	A	A	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr9:79984213A>G	ENST00000360280.3	+	63	8813		c.e63-1		VPS13A_ENST00000357409.5_Splice_Site|VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTTATTTTTAGGCCATTAAG	0.303																																																0			9											124	124	124					9																	79984213		2203	4300	6503	79174033	SO:0001630	splice_region_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8554-1A>G	9.37:g.79984213A>G			79174033	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Splice_Site	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379588	0.82682	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.42	0.75003	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13A	79174033	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.962000	0.93254	2.054000	0.61138	0.477000	0.44152	.		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Intron	G	79984213	A	G	79984213	5	3	259	1	0	0	0	0	0	0	1	0	17189	434	15	4	8802	4	VPS13A	9	79984213	Splice_Site	SNP	A	TCGA-24-1843-01A-01W-0639-09		79984213	61229218	44	14285											
OR52M1	119772	genome.wustl.edu	37	11	4566788	4566788	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr11:4566788A>G	ENST00000360213.1	+	1	368	c.368A>G	c.(367-369)gAt>gGt	p.D123G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCTTTTGATCGCTACGTG	0.537																																																0			11											146	127	134					11																	4566788		2201	4298	6499	4523364	SO:0001583	missense	119772			AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.368A>G	11.37:g.4566788A>G	ENSP00000353343:p.Asp123Gly		4523364		Missense_Mutation	SNP	ENST00000360213.1	37	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787553	0.70337	.	.	ENSG00000197790	ENST00000360213	T	0.57107	0.42	4.98	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.81138	0.4760	H	0.98629	4.285	0.41614	D	0.988925	D	0.89917	1.0	D	0.87578	0.998	D	0.85055	0.0931	10	0.87932	D	0	.	9.8023	0.40773	0.9176:0.0:0.0824:0.0	.	123	Q8NGK5	O52M1_HUMAN	G	123	ENSP00000353343:D123G	ENSP00000353343:D123G	D	+	2	0	OR52M1	4523364	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	6.034000	0.70933	1.030000	0.39839	0.528000	0.53228	GAT		0.537	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		G	4566788	A	G	4566788	3	3	259	1	0	0	0	0	1	0	0	0	11126	333	12	4	370	4	OR52M1	11	4566788	Missense_Mutation	SNP	A	TCGA-24-1843-01A-01W-0639-09		4566788	130439728	45	14286											
OR52E8	390079	genome.wustl.edu	37	11	5878440	5878440	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr11:5878440G>T	ENST00000537935.1	-	1	524	c.493C>A	c.(493-495)Ctg>Atg	p.L165M	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAACACCAGTGGAACAACC	0.517																																																0			11											124	134	131					11																	5878440		2151	4296	6447	5835016	SO:0001583	missense	390079			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.493C>A	11.37:g.5878440G>T	ENSP00000444054:p.Leu165Met		5835016	B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	G	8.555	0.876428	0.17395	.	.	ENSG00000183269	ENST00000537935	T	0.00123	8.7	4.35	-3.63	0.04529	GPCR, rhodopsin-like superfamily (1);	1.529080	0.04294	N	0.346008	T	0.00109	0.0003	L	0.35854	1.095	0.09310	N	1	B	0.25206	0.12	B	0.26310	0.068	T	0.10823	-1.0613	10	0.40728	T	0.16	.	3.9759	0.09473	0.0742:0.3073:0.3075:0.311	.	165	Q6IFG1	O52E8_HUMAN	M	165	ENSP00000444054:L165M	ENSP00000444054:L165M	L	-	1	2	OR52E8	5835016	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-5.638000	0.00108	-0.368000	0.08040	0.549000	0.68633	CTG		0.517	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		T	5878440	G	T	5878440	3	4	259	1	0	0	0	0	1	0	0	0	11118	1020	36	3	462	3	OR52E8	11	5878440	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	1311652	5878440	129128076	46	14287											
SSRP1	6749	genome.wustl.edu	37	11	57093899	57093899	+	Silent	SNP	C	C	T	rs564469054		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr11:57093899C>T	ENST00000278412.2	-	17	2378	c.2112G>A	c.(2110-2112)gcG>gcA	p.A704A	snoU13_ENST00000459327.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	704	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CGGATCCTGACGCTGAGTCCT	0.527																																					Colon(89;1000 1340 6884 23013 41819)											0			11											139	126	130					11																	57093899		2201	4296	6497	56850475	SO:0001819	synonymous_variant	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.2112G>A	11.37:g.57093899C>T			56850475	Q5BJG8	Silent	SNP	ENST00000278412.2	37	CCDS7952.1																																																																																				0.527	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		T	57093899	C	T	57093899	2	4	259	1	0	0	0	0	0	0	0	1	15196	523	19	1		1	SSRP1	11	57093899	Silent	SNP	C	TCGA-24-1843-01A-01W-0639-09	51215459	57093899	77912617	47	14288											
FAT3	120114	genome.wustl.edu	37	11	92592408	92592408	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr11:92592408A>C	ENST00000298047.6	+	20	11595	c.11578A>C	c.(11578-11580)Aaa>Caa	p.K3860Q	FAT3_ENST00000533797.1_Missense_Mutation_p.K195Q|FAT3_ENST00000525166.1_Missense_Mutation_p.K3710Q|FAT3_ENST00000409404.2_Missense_Mutation_p.K3860Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3860	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGGATTTCAAACTAGCTCT	0.393										TCGA Ovarian(4;0.039)																																						0			11											88	84	85					11																	92592408		1842	4093	5935	92232056	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11578A>C	11.37:g.92592408A>C	ENSP00000298047:p.Lys3860Gln		92232056	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	19.85	3.903402	0.72754	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.32	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.69691	0.3139	L	0.37800	1.135	0.80722	D	1	D;P	0.76494	0.999;0.63	D;B	0.67382	0.951;0.254	T	0.63866	-0.6540	9	0.16420	T	0.52	.	12.535	0.56137	0.8523:0.1477:0.0:0.0	.	3860;3860	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	3860;3860;3710;195	ENSP00000298047:K3860Q;ENSP00000387040:K3860Q;ENSP00000432586:K3710Q;ENSP00000436399:K195Q	ENSP00000298047:K3860Q	K	+	1	0	FAT3	92232056	1.000000	0.71417	0.798000	0.32154	0.603000	0.37013	5.751000	0.68720	0.969000	0.38237	0.533000	0.62120	AAA		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		C	92592408	A	C	92592408	3	2	259	1	0	0	0	0	1	0	0	0	5691	131	5	5	11656	5	FAT3	11	92592408	Missense_Mutation	SNP	A	TCGA-24-1843-01A-01W-0639-09	35498509	92592408	42414108	48	14289											
OR8A1	390275	genome.wustl.edu	37	11	124440468	124440468	+	Silent	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr11:124440468C>A	ENST00000284287.3	+	1	576	c.504C>A	c.(502-504)atC>atA	p.I168I		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	168					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TCTACGCCATCGGACTCATTG	0.502																																																0			11											138	120	126					11																	124440468		2201	4299	6500	123945678	SO:0001819	synonymous_variant	390275			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.504C>A	11.37:g.124440468C>A			123945678	Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	CCDS31712.1																																																																																				0.502	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		A	124440468	C	A	124440468	2	1	259	1	0	0	0	0	0	0	0	1	11225	874	31	3		3	OR8A1	11	124440468	Silent	SNP	C	TCGA-24-1843-01A-01W-0639-09	31848060	124440468	10566048	49	14290											
C12orf59	120939	genome.wustl.edu	37	12	10332215	10332215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr12:10332215delG	ENST00000381923.2	+	2	446	c.42delG	c.(40-42)ctgfs	p.L14fs	TMEM52B_ENST00000298530.3_Frame_Shift_Del_p.C9fs|TMEM52B_ENST00000536952.1_Frame_Shift_Del_p.L14fs			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	14						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAGCCCTGCTGTATTTCATCC	0.493																																																0			12											167	157	160					12																	10332215		2203	4300	6503	10223482	SO:0001589	frameshift_variant	120939			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.42delG	12.37:g.10332215delG	ENSP00000371348:p.Leu14fs		10223482	Q96NA7	Frame_Shift_Del	DEL	ENST00000381923.2	37																																																																																					0.493	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		-	10332215	G	-	10332215	7	5	259	1	0	1	0	1	0	0	0	0	1702	1377	48	0	28	0	C12orf59	12	10332215	Frame_Shift_Del	DEL	G	TCGA-24-1843-01A-01W-0639-09		10332215	123519680	50	14291											
TRHDE	29953	genome.wustl.edu	37	12	72969316	72969316	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr12:72969316T>A	ENST00000261180.4	+	12	2276	c.2180T>A	c.(2179-2181)cTa>cAa	p.L727Q	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	727					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCCTTCAGCCTAGCCAGGTAT	0.388																																																0			12											95	96	96					12																	72969316		2203	4299	6502	71255583	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2180T>A	12.37:g.72969316T>A	ENSP00000261180:p.Leu727Gln		71255583	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427785	0.83667	.	.	ENSG00000072657	ENST00000261180	T	0.09538	2.97	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.42562	0.1208	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54523	-0.8281	10	0.87932	D	0	.	15.6596	0.77174	0.0:0.0:0.0:1.0	.	727	Q9UKU6	TRHDE_HUMAN	Q	727	ENSP00000261180:L727Q	ENSP00000261180:L727Q	L	+	2	0	TRHDE	71255583	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.160000	0.77495	2.157000	0.67596	0.533000	0.62120	CTA		0.388	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	72969316	T	A	72969316	3	1	259	1	0	0	0	0	1	0	0	0	16479	1522	53	5	2226	5	TRHDE	12	72969316	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09	62637101	72969316	60882579	51	14292											
CAPS2	84698	genome.wustl.edu	37	12	75687068	75687068	+	Missense_Mutation	SNP	C	C	T	rs373505414		TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr12:75687068C>T	ENST00000409445.3	-	13	1377	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409799.1_Missense_Mutation_p.R312Q|CAPS2_ENST00000393284.3_Missense_Mutation_p.R162Q|RP11-560G2.1_ENST00000534648.2_RNA	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	394							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATTTGTGATTCGGAGTTTAAG	0.318													C|||	1	0.000199681	0	0	5008	,	,		15115	0.001		0	False		,,,				2504	0															0			12											123	113	116					12																	75687068		2203	4300	6503	73973335	SO:0001583	missense	84698			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1181G>A	12.37:g.75687068C>T	ENSP00000386959:p.Arg394Gln		73973335	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313982	0.60414	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.30182	1.78;1.54;1.7	4.6	4.6	0.57074	.	0.130292	0.34245	N	0.004139	T	0.52322	0.1727	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.998	P;P;P;P	0.55577	0.779;0.596;0.629;0.545	T	0.60115	-0.7326	10	0.52906	T	0.07	-8.0574	17.7821	0.88527	0.0:1.0:0.0:0.0	.	162;130;394;312	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	Q	312;394;130;162	ENSP00000386977:R312Q;ENSP00000386959:R394Q;ENSP00000376963:R162Q	ENSP00000367975:R130Q	R	-	2	0	CAPS2	73973335	1.000000	0.71417	0.999000	0.59377	0.096000	0.18686	5.588000	0.67517	2.282000	0.76494	0.446000	0.29264	CGA		0.318	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			T	75687068	C	T	75687068	3	4	259	1	0	0	0	0	1	0	0	0	2638	884	31	1	516	1	CAPS2	12	75687068	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	2717752	75687068	58164827	52	14293											
TCP11L2	255394	genome.wustl.edu	37	12	106704894	106704894	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr12:106704894A>T	ENST00000299045.3	+	2	215	c.41A>T	c.(40-42)cAg>cTg	p.Q14L	TCP11L2_ENST00000546625.1_Missense_Mutation_p.Q14L|TCP11L2_ENST00000547153.1_Missense_Mutation_p.Q14L	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	14										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GGAGAGGACCAGCCAAGCGAT	0.512																																																0			12											170	141	151					12																	106704894		2203	4300	6503	105229024	SO:0001583	missense	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.41A>T	12.37:g.106704894A>T	ENSP00000299045:p.Gln14Leu		105229024	B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898994	0.52227	.	.	ENSG00000166046	ENST00000553143;ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098;ENST00000551802;ENST00000548428;ENST00000551228	T;T;T;T;T;T	0.33438	2.19;2.84;2.18;2.19;1.85;1.41	5.91	4.72	0.59763	.	0.159187	0.56097	D	0.000023	T	0.32376	0.0827	L	0.56769	1.78	0.47819	D	0.999527	P;P;P	0.48764	0.915;0.763;0.763	B;P;P	0.44897	0.397;0.463;0.463	T	0.04737	-1.0930	10	0.26408	T	0.33	-2.4279	11.8703	0.52517	0.727:0.2729:0.0:0.0	.	14;14;14	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	L	14	ENSP00000448952:Q14L;ENSP00000299045:Q14L;ENSP00000449123:Q14L;ENSP00000448629:Q14L;ENSP00000447174:Q14L;ENSP00000447457:Q14L	ENSP00000299045:Q14L	Q	+	2	0	TCP11L2	105229024	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.182000	0.50910	2.254000	0.74563	0.533000	0.62120	CAG		0.512	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		T	106704894	A	T	106704894	3	4	259	1	0	0	0	0	1	0	0	0	15715	188	7	5	43	5	TCP11L2	12	106704894	Missense_Mutation	SNP	A	TCGA-24-1843-01A-01W-0639-09	31017826	106704894	27147001	53	14294											
CLIP1	6249	genome.wustl.edu	37	12	122862153	122862153	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr12:122862153G>A	ENST00000540338.1	-	2	481	c.440C>T	c.(439-441)tCa>tTa	p.S147L	CLIP1_ENST00000537178.1_Missense_Mutation_p.S147L|CLIP1_ENST00000302528.7_Missense_Mutation_p.S147L|CLIP1_ENST00000358808.2_Missense_Mutation_p.S147L|CLIP1_ENST00000361654.4_Missense_Mutation_p.S147L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	147	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCACAGCGGTGAAGTAGCTCG	0.527																																																0			12											159	140	147					12																	122862153		2203	4300	6503	121428106	SO:0001583	missense	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.440C>T	12.37:g.122862153G>A	ENSP00000439093:p.Ser147Leu		121428106	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358405	0.61403	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.81	4.93	0.64822	Cytoskeleton-associated protein, Gly-rich domain (1);	0.063903	0.64402	N	0.000004	D	0.85141	0.5629	M	0.76002	2.32	0.58432	D	0.999999	D;D;D;P	0.76494	0.994;0.999;0.99;0.731	D;D;D;B	0.74023	0.925;0.982;0.961;0.35	D	0.86928	0.2071	10	0.72032	D	0.01	-7.1017	14.552	0.68073	0.0695:0.0:0.9305:0.0	.	147;147;147;147	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	L	147	ENSP00000303585:S147L;ENSP00000351665:S147L;ENSP00000445531:S147L;ENSP00000439093:S147L;ENSP00000437786:S147L;ENSP00000441409:S147L	ENSP00000303585:S147L	S	-	2	0	CLIP1	121428106	1.000000	0.71417	0.289000	0.24876	0.270000	0.26580	9.479000	0.97929	1.462000	0.47948	0.591000	0.81541	TCA		0.527	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		A	122862153	G	A	122862153	3	1	259	1	0	0	0	0	1	0	0	0	3532	1294	45	2	3935	2	CLIP1	12	122862153	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	16157259	122862153	10989742	54	14295											
DGKH	160851	genome.wustl.edu	37	13	42783556	42783556	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr13:42783556C>G	ENST00000337343.4	+	23	2826	c.2805C>G	c.(2803-2805)atC>atG	p.I935M	DGKH_ENST00000261491.5_Missense_Mutation_p.I935M|DGKH_ENST00000379274.2_Missense_Mutation_p.I799M|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.I799M|DGKH_ENST00000538674.1_Missense_Mutation_p.I690M|DGKH_ENST00000540693.1_Missense_Mutation_p.I935M	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	935					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGGGATTATCAAAATTGTGC	0.388																																																0			13											90	83	85					13																	42783556		2203	4300	6503	41681556	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2805C>G	13.37:g.42783556C>G	ENSP00000337572:p.Ile935Met		41681556	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196363	0.58126	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.68	2.47	0.30058	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.86268	2.805	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;0.998;0.982;0.994	D;D;D;D	0.85130	0.997;0.971;0.915;0.965	T	0.63359	-0.6655	10	0.87932	D	0	.	2.2104	0.03946	0.2315:0.4053:0.0:0.3632	.	690;799;935;935	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	M	935;935;935;799;799;690	ENSP00000440823:I935M;ENSP00000337572:I935M;ENSP00000261491:I935M;ENSP00000368576:I799M;ENSP00000445114:I799M;ENSP00000441308:I690M	ENSP00000261491:I935M	I	+	3	3	DGKH	41681556	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.200000	0.32247	0.831000	0.34780	-0.216000	0.12614	ATC		0.388	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		G	42783556	C	G	42783556	3	3	259	1	0	0	0	0	1	0	0	0	4470	816	29	3	2895	3	DGKH	13	42783556	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09		42783556	72386322	55	14296											
LMO7	4008	genome.wustl.edu	37	13	76409451	76409451	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr13:76409451T>A	ENST00000321797.8	+	16	3331	c.2610T>A	c.(2608-2610)gaT>gaA	p.D870E	LMO7_ENST00000357063.3_Missense_Mutation_p.D1155E|LMO7_ENST00000341547.4_Missense_Mutation_p.D821E|LMO7_ENST00000465261.2_Missense_Mutation_p.D870E|LMO7_ENST00000526202.1_Missense_Mutation_p.D747E|LMO7_ENST00000377534.3_Missense_Mutation_p.D1155E			Q8WWI1	LMO7_HUMAN	LIM domain 7	1155					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAACAACTGATTTCTCCGAAA	0.363																																																0			13											80	81	81					13																	76409451		2203	4300	6503	75307452	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.2610T>A	13.37:g.76409451T>A	ENSP00000317802:p.Asp870Glu		75307452	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	12.97|12.97|12.97	2.097110|2.097110|2.097110	0.37048|0.37048|0.37048	.|.|.	.|.|.	ENSG00000136153|ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038;ENST00000525914|ENST00000524651;ENST00000525107	T;T;T;T;T;T;T|.|.	0.44881|.|.	1.48;1.48;1.49;0.91;0.92;0.94;0.91|.|.	5.67|5.67|5.67	1.86|1.86|1.86	0.25419|0.25419|0.25419	.|.|.	0.398466|.|.	0.31897|.|.	N|.|.	0.006884|.|.	T|T|T	0.40694|0.40694|0.40694	0.1127|0.1127|0.1127	L|L|L	0.48362|0.48362|0.48362	1.52|1.52|1.52	0.31167|0.31167|0.31167	N|N|N	0.703623|0.703623|0.703623	B;P;B;B;B|.|.	0.36683|.|.	0.429;0.565;0.134;0.058;0.177|.|.	B;B;B;B;B|.|.	0.32149|.|.	0.067;0.141;0.037;0.023;0.067|.|.	T|T|T	0.42949|0.42949|0.42949	-0.9421|-0.9421|-0.9421	10|5|5	0.27785|.|.	T|.|.	0.31|.|.	-24.0089|-24.0089|-24.0089	4.0218|4.0218|4.0218	0.09668|0.09668|0.09668	0.236:0.2009:0.0:0.5631|0.236:0.2009:0.0:0.5631|0.236:0.2009:0.0:0.5631	.|.|.	747;821;1155;870;1103|.|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.|.	.;.;LMO7_HUMAN;.;.|.|.	E|I|N	821;1155;1155;769;870;747;870|779;58|202;109	ENSP00000342112:D821E;ENSP00000349571:D1155E;ENSP00000366757:D1155E;ENSP00000366719:D769E;ENSP00000317802:D870E;ENSP00000431129:D747E;ENSP00000433352:D870E|.|.	ENSP00000317802:D870E|.|.	D|F|I	+|+|+	3|1|2	2|0|0	LMO7|LMO7|LMO7	75307452|75307452|75307452	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.321000|0.321000|0.321000	0.28281|0.28281|0.28281	0.508000|0.508000|0.508000	0.22692|0.22692|0.22692	0.151000|0.151000|0.151000	0.19162|0.19162|0.19162	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	GAT|TTT|ATT		0.363	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		A	76409451	T	A	76409451	3	1	259	1	0	0	0	0	1	0	0	0	8855	1490	52	5	3539	5	LMO7	13	76409451	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09	33625895	76409451	38760427	56	14297											
SLITRK5	26050	genome.wustl.edu	37	13	88330472	88330472	+	Silent	SNP	G	G	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr13:88330472G>C	ENST00000325089.6	+	2	3048	c.2829G>C	c.(2827-2829)ccG>ccC	p.P943P	SLITRK5_ENST00000400028.3_Silent_p.P702P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	943					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACGTTGAGCCGGACTACCTCG	0.468																																																0			13											107	116	113					13																	88330472		2195	4275	6470	87128473	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2829G>C	13.37:g.88330472G>C			87128473	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	CCDS9465.1																																																																																				0.468	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			C	88330472	G	C	88330472	2	2	259	1	0	0	0	0	0	0	0	1	14749	1103	39	3		3	SLITRK5	13	88330472	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	11921021	88330472	26839406	57	14298											
MYO16	23026	genome.wustl.edu	37	13	109318455	109318455	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr13:109318455G>A	ENST00000357550.2	+	1	225	c.184G>A	c.(184-186)Gac>Aac	p.D62N	MYO16_ENST00000251041.5_Missense_Mutation_p.D62N|MYO16_ENST00000356711.2_Missense_Mutation_p.D62N	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAACCTCACGGACATGCTACA	0.438																																																0			13											65	57	60					13																	109318455		2203	4300	6503	108116456	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.184G>A	13.37:g.109318455G>A	ENSP00000350160:p.Asp62Asn		108116456		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806143	0.70682	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.55760	0.5;0.5;0.5	5.37	5.37	0.77165	Ankyrin repeat-containing domain (2);	0.000000	0.37761	U	0.001948	T	0.58133	0.2101	L	0.34521	1.04	0.80722	D	1	B;D	0.71674	0.373;0.998	B;P	0.57425	0.082;0.82	T	0.54370	-0.8304	9	.	.	.	.	18.0975	0.89494	0.0:0.0:1.0:0.0	.	62;62	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	N	62	ENSP00000349145:D62N;ENSP00000350160:D62N;ENSP00000251041:D62N	.	D	+	1	0	MYO16	108116456	1.000000	0.71417	0.941000	0.38009	0.021000	0.10359	8.720000	0.91442	2.506000	0.84524	0.650000	0.86243	GAC		0.438	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		A	109318455	G	A	109318455	3	1	259	1	0	0	0	0	1	0	0	0	10064	1174	41	2	186	2	MYO16	13	109318455	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	20987983	109318455	5851423	58	14299											
GPR137C	283554	genome.wustl.edu	37	14	53066941	53066941	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr14:53066941C>A	ENST00000321662.6	+	3	599	c.599C>A	c.(598-600)aCt>aAt	p.T200N		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	200						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTGAAGTGGACTGTGTTTGTT	0.373																																																0			14											254	220	231					14																	53066941		1868	4117	5985	52136691	SO:0001583	missense	283554			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.599C>A	14.37:g.53066941C>A	ENSP00000315106:p.Thr200Asn		52136691	Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	CCDS45106.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.42|18.42|18.42	3.620033|3.620033|3.620033	0.66787|0.66787|0.66787	.|.|.	.|.|.	ENSG00000180998|ENSG00000180998|ENSG00000180998	ENST00000542169|ENST00000555622|ENST00000321662	.|.|T	.|.|0.44482	.|.|0.92	5.44|5.44|5.44	5.44|5.44|5.44	0.79542|0.79542|0.79542	.|.|.	.|.|0.103858	.|.|0.64402	.|.|D	.|.|0.000003	T|T|T	0.51873|0.51873|0.51873	0.1700|0.1700|0.1700	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.38970|0.38970|0.38970	D|D|D	0.958736|0.958736|0.958736	.|.|D;D	.|.|0.71674	.|.|0.998;0.998	.|.|P;P	.|.|0.62649	.|.|0.905;0.905	T|T|T	0.56141|0.56141|0.56141	-0.8028|-0.8028|-0.8028	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-24.1677|-24.1677|-24.1677	12.5885|12.5885|12.5885	0.56430|0.56430|0.56430	0.0:0.924:0.0:0.076|0.0:0.924:0.0:0.076|0.0:0.924:0.0:0.076	.|.|.	.|.|200;29	.|.|Q8N3F9;B3KW22	.|.|G137C_HUMAN;.	E|M|N	153|132|200	.|.|ENSP00000315106:T200N	.|.|ENSP00000315106:T200N	D|L|T	+|+|+	3|1|2	2|2|0	GPR137C|GPR137C|GPR137C	52136691|52136691|52136691	0.977000|0.977000|0.977000	0.34250|0.34250|0.34250	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.197000|1.197000|1.197000	0.32211|0.32211|0.32211	2.534000|2.534000|2.534000	0.85438|0.85438|0.85438	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|CTG|ACT		0.373	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		A	53066941	C	A	53066941	3	1	259	1	0	0	0	0	1	0	0	0	6647	565	20	3	609	3	GPR137C	14	53066941	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09		53066941	54282599	59	14300											
GOLGA6B	55889	genome.wustl.edu	37	15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	rs201618622	byFrequency	TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521															4	Substitution - Missense(4)	skin(2)|lung(1)|endometrium(1)	15											81	81	81					15																	72954797		2063	3889	5952	70741851	SO:0001583	missense	55889				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala		70741851	A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		C	72954797	T	C	72954797	3	2	259	1	0	0	0	0	1	0	0	0	6558	1696	59	4	1094	4	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09		72954797	29576595	60	14301											
BNC1	646	genome.wustl.edu	37	15	83926623	83926623	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr15:83926623C>G	ENST00000345382.2	-	5	2641	c.2556G>C	c.(2554-2556)gaG>gaC	p.E852D	BNC1_ENST00000569704.1_Missense_Mutation_p.E845D|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	852					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGATGGTGCCCTCGCTCAAGG	0.542																																																0			15											127	99	108					15																	83926623		2203	4300	6503	81717627	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2556G>C	15.37:g.83926623C>G	ENSP00000307041:p.Glu852Asp		81717627	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	2.393	-0.339476	0.05243	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.36340	1.26	5.94	2.83	0.33086	.	0.104305	0.64402	N	0.000006	T	0.11110	0.0271	N	0.04203	-0.255	0.32227	N	0.574521	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.27673	-1.0067	10	0.02654	T	1	-26.0832	1.9581	0.03380	0.1709:0.4366:0.2276:0.1649	.	845;852	F5GY04;Q01954	.;BNC1_HUMAN	D	852;845	ENSP00000307041:E852D	ENSP00000307041:E852D	E	-	3	2	BNC1	81717627	0.997000	0.39634	1.000000	0.80357	0.848000	0.48234	0.501000	0.22578	0.307000	0.22880	0.563000	0.77884	GAG		0.542	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		G	83926623	C	G	83926623	3	3	259	1	0	0	0	0	1	0	0	0	1474	680	24	3	432	3	BNC1	15	83926623	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	10971826	83926623	18604769	61	14302											
CHD9	80205	genome.wustl.edu	37	16	53262952	53262952	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr16:53262952C>G	ENST00000398510.3	+	7	2313	c.2226C>G	c.(2224-2226)atC>atG	p.I742M	CHD9_ENST00000447540.1_Missense_Mutation_p.I742M|CHD9_ENST00000564845.1_Missense_Mutation_p.I742M|CHD9_ENST00000566029.1_Missense_Mutation_p.I742M			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	742	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATAAAAGGATCCAGCAGAAAA	0.318																																																0			16											37	33	34					16																	53262952		1804	4073	5877	51820453	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2226C>G	16.37:g.53262952C>G	ENSP00000381522:p.Ile742Met		51820453	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	C	17.13	3.311456	0.60414	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.87887	-2.23;-2.31	5.36	-2.64	0.06114	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.284949	0.26496	N	0.024058	D	0.91274	0.7249	M	0.87269	2.87	0.52501	D	0.999958	D;D;D;D	0.71674	0.985;0.998;0.997;0.997	D;D;D;D	0.83275	0.962;0.991;0.996;0.994	D	0.87563	0.2473	10	0.72032	D	0.01	-9.1684	5.2085	0.15304	0.2258:0.4472:0.0:0.327	.	268;742;742;742	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	M	742;742;268	ENSP00000396345:I742M;ENSP00000381522:I742M	ENSP00000219084:I268M	I	+	3	3	CHD9	51820453	0.995000	0.38212	0.993000	0.49108	0.996000	0.88848	0.447000	0.21710	-0.247000	0.09597	0.460000	0.39030	ATC		0.318	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		G	53262952	C	G	53262952	3	3	259	1	0	0	0	0	1	0	0	0	3332	845	30	3	2252	3	CHD9	16	53262952	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09		53262952	37091801	62	14303											
HYDIN	54768	genome.wustl.edu	37	16	71171252	71171252	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr16:71171252T>C	ENST00000393567.2	-	8	995	c.845A>G	c.(844-846)gAa>gGa	p.E282G	HYDIN_ENST00000393550.2_Missense_Mutation_p.E282G|HYDIN_ENST00000541601.1_Missense_Mutation_p.E299G|HYDIN_ENST00000448691.1_Missense_Mutation_p.E282G|HYDIN_ENST00000538248.1_Missense_Mutation_p.E309G|HYDIN_ENST00000288168.10_Missense_Mutation_p.E299G|HYDIN_ENST00000321489.5_Missense_Mutation_p.E282G|HYDIN_ENST00000448089.2_Missense_Mutation_p.E282G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	282					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAACACCTTTTCACCTAGGAA	0.358																																																0			16											2	1	2					16																	71171252		1274	2525	3799	69728753	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.845A>G	16.37:g.71171252T>C	ENSP00000377197:p.Glu282Gly		69728753	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.39|16.39	3.110830|3.110830	0.56398|0.56398	.|.	.|.	ENSG00000157423|ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550|ENST00000538382	T;T;T;T;T;T;T;T|.	0.17370|.	5.31;3.5;3.5;3.5;3.51;3.51;3.14;2.28|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.000000|.	0.31949|.	U|.	0.006801|.	T|T	0.75361|0.75361	0.3839|0.3839	M|M	0.81802|0.81802	2.56|2.56	0.46609|0.46609	D|D	0.999121|0.999121	P;P;D;B;P;D|.	0.76494|.	0.921;0.921;0.999;0.03;0.921;0.999|.	P;P;D;B;P;D|.	0.87578|.	0.842;0.842;0.998;0.027;0.901;0.998|.	T|T	0.77768|0.77768	-0.2464|-0.2464	10|5	0.30854|.	T|.	0.27|.	.|.	13.4905|13.4905	0.61393|0.61393	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	309;299;282;299;282;282|.	B4DRN4;F5H6V3;Q4G0P3;F8WD03;Q4G0P3-5;F8WD23|.	.;.;HYDIN_HUMAN;.;.;.|.	G|E	282;282;282;282;282;309;299;299;282|121	ENSP00000377197:E282G;ENSP00000398544:E282G;ENSP00000394826:E282G;ENSP00000314736:E282G;ENSP00000444970:E309G;ENSP00000437341:E299G;ENSP00000288168:E299G;ENSP00000377181:E282G|.	ENSP00000288168:E299G|.	E|K	-|-	2|1	0|0	HYDIN|HYDIN	69728753|69728753	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.823000|0.823000	0.46562|0.46562	6.042000|6.042000	0.70996|0.70996	1.989000|1.989000	0.58080|0.58080	0.369000|0.369000	0.22263|0.22263	GAA|AAA		0.358	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			C	71171252	T	C	71171252	3	2	259	1	0	0	0	0	1	0	0	0	7467	1783	62	4	14845	4	HYDIN	16	71171252	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09	17908300	71171252	19183501	63	14304											
TP53	7157	genome.wustl.edu	37	17	7573982	7573982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr17:7573982C>A	ENST00000269305.4	-	10	1234	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E349*	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	349	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> D (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E349*(11)|p.0?(8)|p.L348_E349>F*(2)|p.E349fs*21(2)|p.?(1)|p.I332fs*5(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)	TCCTTGAGTTCCAAGGCCTCA	0.597		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"	25	Substitution - Nonsense(11)|Whole gene deletion(8)|Deletion - Frameshift(3)|Complex - compound substitution(2)|Unknown(1)	lung(6)|bone(4)|central_nervous_system(3)|large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|skin(2)|stomach(1)|urinary_tract(1)|ovary(1)|breast(1)	17											62	48	52					17																	7573982		2203	4300	6503	7514707	SO:0001587	stop_gained	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.1045G>T	17.37:g.7573982C>A	ENSP00000269305:p.Glu349*		7514707	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	38	7.072789	0.98044	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-35.1174	13.3529	0.60611	0.159:0.841:0.0:0.0	.	.	.	.	X	349;349;338	.	ENSP00000269305:E349X	E	-	1	0	TP53	7514707	1.000000	0.71417	0.837000	0.33122	0.960000	0.62799	4.805000	0.62561	1.268000	0.44264	0.561000	0.74099	GAA		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7573982	C	A	7573982	4	1	259	1	0	0	0	0	0	1	0	0	16381	864	30	3	144	3	TP53	17	7573982	Nonsense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09		7573982	73621228	64	14305											
CHD3	1107	genome.wustl.edu	37	17	7798346	7798346	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr17:7798346G>C	ENST00000330494.7	+	9	1531	c.1381G>C	c.(1381-1383)Gta>Cta	p.V461L	CHD3_ENST00000380358.4_Missense_Mutation_p.V520L|CHD3_ENST00000358181.4_Missense_Mutation_p.V461L	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	461					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTACTGCCGCGTATGCAAGGA	0.562																																																0			17											211	146	168					17																	7798346		2203	4300	6503	7739071	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1381G>C	17.37:g.7798346G>C	ENSP00000332628:p.Val461Leu		7739071	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.63|16.63	3.177439|3.177439	0.57692|0.57692	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	T|D;D;D	0.39229|0.85258	1.09|-1.96;-1.96;-1.96	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.000000	.|0.40064	.|N	.|0.001182	D|D	0.89181|0.89181	0.6642|0.6642	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.996;0.997;0.999	.|D;D;D	.|0.83275	.|0.989;0.994;0.996	D|D	0.89500|0.89500	0.3763|0.3763	7|10	0.87932|0.54805	D|T	0|0.06	-23.7845|-23.7845	18.3108|18.3108	0.90199|0.90199	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|461;461;520	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	P|L	331|520;461;461	ENSP00000405861:R331P|ENSP00000369716:V520L;ENSP00000350907:V461L;ENSP00000332628:V461L	ENSP00000405861:R331P|ENSP00000332628:V461L	R|V	+|+	2|1	0|0	CHD3|CHD3	7739071|7739071	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.622000|0.622000	0.37654|0.37654	9.657000|9.657000	0.98554|0.98554	2.657000|2.657000	0.90304|0.90304	0.561000|0.561000	0.74099|0.74099	CGT|GTA		0.562	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		C	7798346	G	C	7798346	3	2	259	1	0	0	0	0	1	0	0	0	3326	1145	40	3	1696	3	CHD3	17	7798346	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	224364	7798346	73396864	65	14306											
WDR16	146845	genome.wustl.edu	37	17	9538754	9538754	+	Silent	SNP	G	G	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr17:9538754G>A	ENST00000352665.5	+	11	1422	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	WDR16_ENST00000396219.3_Silent_p.Q383Q|WDR16_ENST00000299764.5_Silent_p.Q461Q|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GTCAGACCCAGAAGCTGGAGG	0.527																																																0			17											128	103	111					17																	9538754		2203	4300	6503	9479479	SO:0001819	synonymous_variant	146845			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1353G>A	17.37:g.9538754G>A			9479479		Silent	SNP	ENST00000352665.5	37	CCDS11149.2																																																																																				0.527	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		A	9538754	G	A	9538754	2	1	259	1	0	0	0	0	0	0	0	1	17276	933	33	2		2	WDR16	17	9538754	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	1740408	9538754	71656456	66	14307											
SPAG5	10615	genome.wustl.edu	37	17	26912141	26912141	+	Silent	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr17:26912141C>A	ENST00000321765.5	-	10	2378	c.2046G>T	c.(2044-2046)gtG>gtT	p.V682V		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	682	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CCTCAATTGCCACATCACGTT	0.498																																																0			17											198	173	181					17																	26912141		2203	4300	6503	23936268	SO:0001819	synonymous_variant	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2046G>T	17.37:g.26912141C>A			23936268	O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	CCDS32594.1																																																																																				0.498	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		A	26912141	C	A	26912141	2	1	259	1	0	0	0	0	0	0	0	1	14984	581	21	3		3	SPAG5	17	26912141	Silent	SNP	C	TCGA-24-1843-01A-01W-0639-09	17373387	26912141	54283069	67	14308											
KLHL11	55175	genome.wustl.edu	37	17	40010777	40010777	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr17:40010777G>C	ENST00000319121.3	-	2	1402	c.1342C>G	c.(1342-1344)Cta>Gta	p.L448V		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	448										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ACTTCTGTTAGTCCAAAAGAA	0.378																																																0			17											122	124	123					17																	40010777		2203	4300	6503	37264303	SO:0001583	missense	55175				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1342C>G	17.37:g.40010777G>C	ENSP00000314608:p.Leu448Val		37264303		Missense_Mutation	SNP	ENST00000319121.3	37	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	G	3.405	-0.121394	0.06838	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.74632	-0.86	4.73	3.73	0.42828	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.59689	0.2212	N	0.16201	0.385	0.54753	D	0.999988	P	0.36086	0.536	P	0.44477	0.451	T	0.56902	-0.7902	10	0.02654	T	1	0.8919	12.5022	0.55962	0.0848:0.0:0.9152:0.0	.	448	Q9NVR0	KLH11_HUMAN	V	448;311	ENSP00000314608:L448V	ENSP00000314608:L448V	L	-	1	2	KLHL11	37264303	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	4.309000	0.59135	1.274000	0.44362	0.585000	0.79938	CTA		0.378	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		C	40010777	G	C	40010777	3	2	259	1	0	0	0	0	1	0	0	0	8367	1020	36	3	788	3	KLHL11	17	40010777	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	13098636	40010777	41184433	68	14309											
LAMA1	284217	genome.wustl.edu	37	18	6950797	6950797	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr18:6950797T>A	ENST00000389658.3	-	58	8474	c.8381A>T	c.(8380-8382)gAt>gTt	p.D2794V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2794	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCACTTGCCATCACTGAGCAG	0.552																																																0			18											125	107	113					18																	6950797		2203	4300	6503	6940797	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8381A>T	18.37:g.6950797T>A	ENSP00000374309:p.Asp2794Val		6940797		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604673	0.66445	.	.	ENSG00000101680	ENST00000389658	T	0.79247	-1.25	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.93299	0.6675	10	0.87932	D	0	.	15.5892	0.76512	0.0:0.0:0.0:1.0	.	2794;124	P25391;B3KSD8	LAMA1_HUMAN;.	V	2794	ENSP00000374309:D2794V	ENSP00000374309:D2794V	D	-	2	0	LAMA1	6940797	1.000000	0.71417	0.143000	0.22291	0.698000	0.40448	6.920000	0.75799	2.086000	0.62901	0.459000	0.35465	GAT		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6950797	T	A	6950797	3	1	259	1	0	0	0	0	1	0	0	0	8605	1435	50	5	870	5	LAMA1	18	6950797	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09		6950797	71126451	69	14310											
S1PR2	9294	genome.wustl.edu	37	19	10335255	10335255	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr19:10335255C>A	ENST00000590320.1	-	2	437	c.327G>T	c.(325-327)gaG>gaT	p.E109D	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	109					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGCAGAGCCCTCCCGGGCAA	0.627																																					Pancreas(194;229 3020 15179 45747)											0			19											34	34	34					19																	10335255		2203	4300	6503	10196255	SO:0001583	missense	9294			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.327G>T	19.37:g.10335255C>A	ENSP00000466933:p.Glu109Asp		10196255	Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273290	0.80580	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74846	0.3770	L	0.46567	1.45	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.75314	-0.3361	9	0.54805	T	0.06	.	18.0738	0.89421	0.0:1.0:0.0:0.0	.	109	O95136	S1PR2_HUMAN	D	109	.	ENSP00000322049:E109D	E	-	3	2	S1PR2	10196255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.470000	0.45119	2.557000	0.86248	0.586000	0.80456	GAG		0.627	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		A	10335255	C	A	10335255	3	1	259	1	0	0	0	0	1	0	0	0	13797	680	24	3	738	3	S1PR2	19	10335255	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09		10335255	48793728	70	14311											
ZFP14	57677	genome.wustl.edu	37	19	36851341	36851341	+	Silent	SNP	G	G	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr19:36851341G>A	ENST00000270001.7	-	4	346	c.231C>T	c.(229-231)tgC>tgT	p.C77C	ZFP14_ENST00000589280.1_Silent_p.C78C	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACTCACCAGGGCAGTATCTTC	0.478																																																0			19											198	149	165					19																	36851341		2203	4300	6503	41543181	SO:0001819	synonymous_variant	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.231C>T	19.37:g.36851341G>A			41543181	A7MD23	Silent	SNP	ENST00000270001.7	37	CCDS33002.1																																																																																				0.478	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		A	36851341	G	A	36851341	2	1	259	1	0	0	0	0	0	0	0	1	17639	1195	42	2		2	ZFP14	19	36851341	Silent	SNP	G	TCGA-24-1843-01A-01W-0639-09	26516086	36851341	22277642	71	14312											
MED29	55588	genome.wustl.edu	37	19	39882165	39882165	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr19:39882165C>T	ENST00000599213.2	+	1	130	c.103C>T	c.(103-105)Cca>Tca	p.P35S	PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.P35S|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000315588.5_Missense_Mutation_p.P56S			Q9NX70	MED29_HUMAN	mediator complex subunit 29	35	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCCGCAACCGCCAGCACAACT	0.637																																																0			19											21	24	23					19																	39882165		2192	4282	6474	44574005	SO:0001583	missense	55588			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.103C>T	19.37:g.39882165C>T	ENSP00000471802:p.Pro35Ser		44574005	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37		.	.	.	.	.	.	.	.	.	.	C	23.8	4.455387	0.84209	.	.	ENSG00000063322	ENST00000315588	.	.	.	5.26	4.2	0.49525	.	0.418212	0.23277	N	0.049942	T	0.10895	0.0266	N	0.08118	0	0.20307	N	0.999919	P;B	0.35507	0.506;0.005	B;B	0.24155	0.051;0.009	T	0.19549	-1.0302	9	0.07644	T	0.81	-20.8551	10.0305	0.42099	0.0:0.9067:0.0:0.0933	.	35;56	Q9NX70;B4DUA7	MED29_HUMAN;.	S	56	.	ENSP00000314343:P56S	P	+	1	0	MED29	44574005	0.872000	0.30054	0.995000	0.50966	0.994000	0.84299	1.403000	0.34612	2.734000	0.93682	0.655000	0.94253	CCA		0.637	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		T	39882165	C	T	39882165	3	4	259	1	0	0	0	0	1	0	0	0	9447	739	26	2	168	2	MED29	19	39882165	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09	3030824	39882165	19246818	72	14313											
PSMF1	9491	genome.wustl.edu	37	20	1145091	1145091	+	Silent	SNP	C	C	A			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr20:1145091C>A	ENST00000335877.6	+	6	911	c.735C>A	c.(733-735)ccC>ccA	p.P245P	PSMF1_ENST00000333082.3_Silent_p.P245P|PSMF1_ENST00000438768.2_Silent_p.P183P|PSMF1_ENST00000381898.4_Silent_p.P157P|PSMF1_ENST00000246015.4_Silent_p.P245P|PSMF1_ENST00000484891.1_3'UTR	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	245	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)	p.P245P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GCTTTGACCCCTTTGGACCCA	0.587																																																1	Substitution - coding silent(1)	lung(1)	20											110	119	116					20																	1145091		2203	4300	6503	1093091	SO:0001819	synonymous_variant	9491			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.735C>A	20.37:g.1145091C>A			1093091	A0AVQ9|D3DVW3|Q9H4I1	Silent	SNP	ENST00000335877.6	37	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504738	0.26949	.	.	ENSG00000125818	ENST00000435720	.	.	.	6.07	0.286	0.15710	.	.	.	.	.	T	0.52581	0.1743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44267	-0.9339	4	.	.	.	-9.0677	6.9931	0.24765	0.0:0.584:0.1203:0.2957	.	.	.	.	I	87	.	.	L	+	1	0	PSMF1	1093091	0.940000	0.31905	1.000000	0.80357	0.988000	0.76386	-0.023000	0.12456	0.448000	0.26722	0.655000	0.94253	CTT		0.587	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		A	1145091	C	A	1145091	2	1	259	1	0	0	0	0	0	0	0	1	12713	668	24	3		3	PSMF1	20	1145091	Silent	SNP	C	TCGA-24-1843-01A-01W-0639-09		1145091	61880429	73	14314											
SPTLC3	55304	genome.wustl.edu	37	20	13098259	13098259	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr20:13098259A>T	ENST00000399002.2	+	8	1313	c.1039A>T	c.(1039-1041)Acc>Tcc	p.T347S	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	347					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CGTGGGCCCAACCGGCCGGGG	0.498																																																0			20											99	102	101					20																	13098259		1858	4101	5959	13046259	SO:0001583	missense	55304			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1039A>T	20.37:g.13098259A>T	ENSP00000381968:p.Thr347Ser		13046259	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	A	11.62	1.691807	0.30052	.	.	ENSG00000172296	ENST00000399002	D	0.95447	-3.71	6.16	6.16	0.99307	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.188820	0.56097	D	0.000034	D	0.94663	0.8279	M	0.65320	2	0.58432	D	0.999995	B	0.23128	0.08	B	0.32090	0.14	D	0.92053	0.5650	10	0.25751	T	0.34	-13.0456	16.8061	0.85666	1.0:0.0:0.0:0.0	.	347	Q9NUV7	SPTC3_HUMAN	S	347	ENSP00000381968:T347S	ENSP00000381968:T347S	T	+	1	0	SPTLC3	13046259	0.545000	0.26449	0.217000	0.23759	0.958000	0.62258	4.195000	0.58400	2.367000	0.80283	0.528000	0.53228	ACC		0.498	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		T	13098259	A	T	13098259	3	4	259	1	0	0	0	0	1	0	0	0	15127	43	2	5	1069	5	SPTLC3	20	13098259	Missense_Mutation	SNP	A	TCGA-24-1843-01A-01W-0639-09	11953168	13098259	49927261	74	14315											
KIAA1755	85449	genome.wustl.edu	37	20	36869861	36869861	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr20:36869861G>T	ENST00000279024.4	-	3	943	c.672C>A	c.(670-672)gaC>gaA	p.D224E		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	224										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCACCTGGTTGTCTGGGGAGC	0.592																																																0			20											93	89	90					20																	36869861		2203	4300	6503	36303275	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.672C>A	20.37:g.36869861G>T	ENSP00000279024:p.Asp224Glu		36303275	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.518864	0.00967	.	.	ENSG00000149633	ENST00000279024	T	0.05447	3.44	5.46	3.5	0.40072	.	0.498121	0.18686	N	0.134011	T	0.04952	0.0133	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44329	-0.9335	10	0.10902	T	0.67	.	7.9207	0.29843	0.0812:0.0:0.7591:0.1597	.	224	Q5JYT7	K1755_HUMAN	E	224	ENSP00000279024:D224E	ENSP00000279024:D224E	D	-	3	2	KIAA1755	36303275	0.000000	0.05858	0.003000	0.11579	0.062000	0.15995	0.231000	0.17872	0.842000	0.35045	0.655000	0.94253	GAC		0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36869861	G	T	36869861	3	4	259	1	0	0	0	0	1	0	0	0	8257	1368	48	3	2978	3	KIAA1755	20	36869861	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09	23771602	36869861	26155659	75	14316											
KRTAP10-5	386680	genome.wustl.edu	37	21	45999893	45999893	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr21:45999893C>G	ENST00000400372.1	-	1	588	c.563G>C	c.(562-564)tGt>tCt	p.C188S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	188	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GACGGGCACACAGCAGATGGG	0.617																																																0			21											187	193	191					21																	45999893		2203	4300	6503	44824321	SO:0001583	missense	386680			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.563G>C	21.37:g.45999893C>G	ENSP00000383223:p.Cys188Ser		44824321	Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	5.995	0.367445	0.11352	.	.	ENSG00000241123	ENST00000400372	T	0.02280	4.36	2.5	1.54	0.23209	.	.	.	.	.	T	0.09730	0.0239	M	0.81112	2.525	0.09310	N	0.999992	P	0.38223	0.623	P	0.55615	0.78	T	0.06789	-1.0807	9	0.51188	T	0.08	.	8.2293	0.31589	0.0:0.5112:0.4888:0.0	.	188	P60370	KR105_HUMAN	S	188	ENSP00000383223:C188S	ENSP00000383223:C188S	C	-	2	0	KRTAP10-5	44824321	0.037000	0.19845	0.012000	0.15200	0.007000	0.05969	0.511000	0.22739	0.333000	0.23563	0.305000	0.20034	TGT		0.617	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			G	45999893	C	G	45999893	3	3	259	1	0	0	0	0	1	0	0	0	8512	478	17	3	256	3	KRTAP10-5	21	45999893	Missense_Mutation	SNP	C	TCGA-24-1843-01A-01W-0639-09		45999893	2130002	76	14317											
CRYBA4	1413	genome.wustl.edu	37	22	27024284	27024284	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chr22:27024284G>C	ENST00000354760.3	+	5	368	c.333G>C	c.(331-333)gaG>gaC	p.E111D	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	111	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CAATCTTCGAGCAAGAGAACT	0.567																																																0			22											137	118	125					22																	27024284		2203	4300	6503	25354284	SO:0001583	missense	1413				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.333G>C	22.37:g.27024284G>C	ENSP00000346805:p.Glu111Asp		25354284	Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367602	0.61513	.	.	ENSG00000196431	ENST00000354760	T	0.80824	-1.42	4.3	3.25	0.37280	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	M	0.79011	2.435	0.80722	D	1	B	0.30068	0.267	B	0.35971	0.215	T	0.77970	-0.2387	10	0.52906	T	0.07	.	8.6077	0.33784	0.123:0.0:0.877:0.0	.	111	P53673	CRBA4_HUMAN	D	111	ENSP00000346805:E111D	ENSP00000346805:E111D	E	+	3	2	CRYBA4	25354284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.274000	0.65569	0.956000	0.37904	0.655000	0.94253	GAG		0.567	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		C	27024284	G	C	27024284	3	2	259	1	0	0	0	0	1	0	0	0	3909	962	34	3	347	3	CRYBA4	22	27024284	Missense_Mutation	SNP	G	TCGA-24-1843-01A-01W-0639-09		27024284	24280282	77	14318											
KDM5C	8242	genome.wustl.edu	37	X	53222396	53222396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chrX:53222396delG	ENST00000375401.3	-	26	4968	c.4436delC	c.(4435-4437)ccafs	p.P1479fs	KDM5C_ENST00000375383.3_Frame_Shift_Del_p.P1435fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.P1476fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.P1478fs|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1479					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TACCCTCTTTGGCTCTAGCTC	0.716			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0			X											62	39	47					X																	53222396		2203	4300	6503	53239121	SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4436delC	X.37:g.53222396delG	ENSP00000364550:p.Pro1479fs		53239121	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.716	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53222396	G	-	53222396	7	5	259	1	0	1	0	1	0	0	0	0	8135	1348	47	0	348	0	KDM5C	23	53222396	Frame_Shift_Del	DEL	G	TCGA-24-1843-01A-01W-0639-09		53222396	102048164	78	14319											
ITIH5L	347365	genome.wustl.edu	37	X	54785304	54785304	+	Silent	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chrX:54785304C>T	ENST00000218436.6	-	8	1232	c.1203G>A	c.(1201-1203)acG>acA	p.T401T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	401	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TCACGCCGGCCGTGGGCTCCC	0.607																																																0			X											51	40	44					X																	54785304		2203	4300	6503	54802029	SO:0001819	synonymous_variant	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1203G>A	X.37:g.54785304C>T			54802029	A6NN03	Silent	SNP	ENST00000218436.6	37	CCDS14361.1																																																																																				0.607	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54785304	C	T	54785304	2	4	259	1	0	0	0	0	0	0	0	1	7908	639	23	1		1	ITIH5L	23	54785304	Silent	SNP	C	TCGA-24-1843-01A-01W-0639-09	1562908	54785304	100485256	79	14320											
ARHGAP36	158763	genome.wustl.edu	37	X	130218993	130218993	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chrX:130218993T>C	ENST00000276211.5	+	7	1255	c.910T>C	c.(910-912)Tct>Cct	p.S304P	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S292P|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S168P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	304	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CATGAAGGATTCTCTGCTGCC	0.458																																																0			X											152	126	135					X																	130218993		2203	4300	6503	130046674	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.910T>C	X.37:g.130218993T>C	ENSP00000276211:p.Ser304Pro		130046674	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	1.690	-0.504290	0.04261	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.3	1.52	0.23074	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.418236	0.20812	N	0.085237	T	0.04588	0.0125	N	0.00121	-2.07	0.25349	N	0.988885	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.41124	-0.9526	10	0.02654	T	1	.	5.8226	0.18536	0.0:0.3601:0.0:0.6399	.	273;292;304	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	P	304;292;273;168	ENSP00000276211:S304P;ENSP00000359960:S292P;ENSP00000408515:S273P;ENSP00000359959:S168P	ENSP00000276211:S304P	S	+	1	0	ARHGAP36	130046674	0.951000	0.32395	0.990000	0.47175	0.603000	0.37013	0.993000	0.29680	0.285000	0.22329	0.417000	0.27973	TCT		0.458	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		C	130218993	T	C	130218993	3	2	259	1	0	0	0	0	1	0	0	0	883	1783	62	4	932	4	ARHGAP36	23	130218993	Missense_Mutation	SNP	T	TCGA-24-1843-01A-01W-0639-09	75433689	130218993	25051567	80	14321											
SLITRK4	139065	genome.wustl.edu	37	X	142717782	142717782	+	Silent	SNP	C	C	T			TCGA-24-1843-01A-01W-0639-09	TCGA-24-1843-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22cd9936-9f48-447f-99b3-619f703e15c7	ed14c55e-68c3-4245-ab35-6401a92781ef	g.chrX:142717782C>T	ENST00000381779.4	-	2	1368	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	SLITRK4_ENST00000338017.4_Silent_p.K381K|SLITRK4_ENST00000356928.1_Silent_p.K381K	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	381						integral component of membrane (GO:0016021)		p.K381N(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGACGTGCAGCTTCTTCGCAT	0.413																																																1	Substitution - Missense(1)	lung(1)	X											223	179	194					X																	142717782		2203	4300	6503	142545448	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1143G>A	X.37:g.142717782C>T			142545448	Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	CCDS14679.1																																																																																				0.413	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		T	142717782	C	T	142717782	2	4	259	1	0	0	0	0	0	0	0	1	14748	796	28	2		2	SLITRK4	23	142717782	Silent	SNP	C	TCGA-24-1843-01A-01W-0639-09	12498789	142717782	12552778	81	14322											
ATAD3C	219293	genome.wustl.edu	37	1	1391266	1391266	+	Silent	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:1391266A>G	ENST00000378785.2	+	6	1529	c.534A>G	c.(532-534)ccA>ccG	p.P178P		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	178							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTACGGGCCACCAGGCACCG	0.637																																																0			1											75	82	80					1																	1391266		692	1591	2283	1381129	SO:0001819	synonymous_variant	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.534A>G	1.37:g.1391266A>G			1381129	Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																				0.637	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		G	1391266	A	G	1391266	2	3	260	1	0	0	0	0	0	0	0	1	1075	146	6	4		4	ATAD3C	1	1391266	Silent	SNP	A	TCGA-24-1844-01A-01W-0639-09		1391266	247859355	1	14323											
PRAMEF12	390999	genome.wustl.edu	37	1	12835036	12835036	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:12835036T>A	ENST00000357726.4	+	1	53	c.26T>A	c.(25-27)cTc>cAc	p.L9H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	9					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCTAGACTCCTGGAGCTG	0.547																																																0			1											47	55	52					1																	12835036		2193	4300	6493	12757623	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.26T>A	1.37:g.12835036T>A	ENSP00000350358:p.Leu9His		12757623		Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.587380	0.46110	.	.	ENSG00000116726	ENST00000357726	T	0.06218	3.33	2.56	2.56	0.30785	.	0.000000	0.64402	D	0.000011	T	0.29423	0.0733	M	0.94063	3.49	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06935	-1.0799	10	0.87932	D	0	.	8.9133	0.35565	0.0:0.0:0.0:1.0	.	9	O95522	PRA12_HUMAN	H	9	ENSP00000350358:L9H	ENSP00000350358:L9H	L	+	2	0	PRAMEF12	12757623	0.167000	0.22975	0.008000	0.14137	0.186000	0.23388	2.546000	0.45778	1.406000	0.46857	0.164000	0.16699	CTC		0.547	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		A	12835036	T	A	12835036	3	1	260	1	0	0	0	0	1	0	0	0	12431	1551	54	5	28	5	PRAMEF12	1	12835036	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	11443770	12835036	236415585	2	14324											
LRRC41	10489	genome.wustl.edu	37	1	46752173	46752173	+	Splice_Site	SNP	T	T	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:46752173T>A	ENST00000343304.6	-	4	643		c.e4-2		LRRC41_ENST00000472710.1_Splice_Site	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41						protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTCACACTCTGAAACGCAGA	0.448																																																0			1											48	44	45					1																	46752173		2203	4300	6503	46524760	SO:0001630	splice_region_variant	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.358-2A>T	1.37:g.46752173T>A			46524760	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Splice_Site	SNP	ENST00000343304.6	37	CCDS533.1	.	.	.	.	.	.	.	.	.	.	t	15.05	2.717193	0.48622	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1036	0.72303	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC41	46524760	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	5.138000	0.64795	1.974000	0.57490	0.353000	0.21931	.		0.448	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369	Intron	A	46752173	T	A	46752173	5	1	260	1	0	0	0	0	0	0	1	0	8999	1594	55	5	2110	5	LRRC41	1	46752173	Splice_Site	SNP	T	TCGA-24-1844-01A-01W-0639-09	33917137	46752173	202498448	3	14325											
ECHDC2	55268	genome.wustl.edu	37	1	53364861	53364861	+	Missense_Mutation	SNP	A	A	C	rs200777537		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:53364861A>C	ENST00000371522.4	-	8	831	c.738T>G	c.(736-738)atT>atG	p.I246M	ECHDC2_ENST00000358358.5_Missense_Mutation_p.I215M|ECHDC2_ENST00000536120.1_Missense_Mutation_p.I200M	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	246					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TTCCTCGGTCAATGGCTACTT	0.562																																																0			1											90	76	81					1																	53364861		2203	4300	6503	53137449	SO:0001583	missense	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.738T>G	1.37:g.53364861A>C	ENSP00000360577:p.Ile246Met		53137449	D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693245	0.48202	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120	T;T;T	0.65364	-0.15;-0.15;-0.15	5.18	0.375	0.16188	Crontonase, C-terminal (1);	0.096119	0.64402	D	0.000001	T	0.56124	0.1964	M	0.77820	2.39	0.80722	D	1	B;B	0.25235	0.035;0.121	B;B	0.25987	0.063;0.065	T	0.49495	-0.8934	10	0.59425	D	0.04	.	4.1565	0.10263	0.4823:0.0:0.359:0.1587	.	246;215	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	M	246;215;200	ENSP00000360577:I246M;ENSP00000351125:I215M;ENSP00000439264:I200M	ENSP00000351125:I215M	I	-	3	3	ECHDC2	53137449	0.984000	0.35163	0.997000	0.53966	0.963000	0.63663	0.058000	0.14301	-0.088000	0.12506	0.402000	0.26972	ATT		0.562	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		C	53364861	A	C	53364861	3	2	260	1	0	0	0	0	1	0	0	0	4894	126	5	5	152	5	ECHDC2	1	53364861	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	6612688	53364861	195885760	4	14326											
INADL	10207	genome.wustl.edu	37	1	62455950	62455950	+	Missense_Mutation	SNP	C	C	T	rs182582824	byFrequency	TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:62455950C>T	ENST00000371158.2	+	28	3895	c.3781C>T	c.(3781-3783)Cgc>Tgc	p.R1261C	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.R1261C|INADL_ENST00000543708.1_Missense_Mutation_p.R45C	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1261	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGACCGATCACGCATGAGCAT	0.453													C|||	2	0.000399361	0	0	5008	,	,		16564	0.001		0	False		,,,				2504	0.001															0			1											107	98	101					1																	62455950		2203	4300	6503	62228538	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3781C>T	1.37:g.62455950C>T	ENSP00000360200:p.Arg1261Cys		62228538	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.3	4.401623	0.83120	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.84	5.84	0.93424	PDZ/DHR/GLGF (4);	0.073201	0.56097	D	0.000039	T	0.53449	0.1797	L	0.37507	1.11	0.80722	D	1	B;B;B;D;P	0.63046	0.008;0.188;0.403;0.992;0.534	B;B;B;D;B	0.63793	0.017;0.096;0.106;0.918;0.118	T	0.49826	-0.8898	10	0.51188	T	0.08	.	16.4097	0.83704	0.132:0.868:0.0:0.0	.	45;720;1261;1261;1261	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	C	1261;1261;1261;1261;45;45	ENSP00000360200:R1261C;ENSP00000326199:R1261C;ENSP00000307496:R45C;ENSP00000445790:R45C	ENSP00000307496:R45C	R	+	1	0	INADL	62228538	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	2.574000	0.46016	2.760000	0.94817	0.655000	0.94253	CGC		0.453	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		T	62455950	C	T	62455950	3	4	260	1	0	0	0	0	1	0	0	0	7731	536	19	1	3887	1	INADL	1	62455950	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	9091089	62455950	186794671	5	14327											
LPAR3	23566	genome.wustl.edu	37	1	85279714	85279715	+	In_Frame_Ins	INS	-	-	GAT			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:85279714_85279715insGAT	ENST00000440886.1	-	2	914_915	c.876_877insATC	c.(874-879)atctac>atcATCtac	p.292_293insI	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_In_Frame_Ins_p.292_293insI			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	292					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TTGTAGGAGTAGATGATGGGGT	0.574																																																0			1																																								85052303	SO:0001652	inframe_insertion	23566			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.874_876dupATC	1.37:g.85279718_85279720dupGAT	ENSP00000395389:p.Ile292_Ile292dup		85052302	A0AVA3	In_Frame_Ins	INS	ENST00000440886.1	37	CCDS700.1																																																																																				0.574	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		GAT	85279715	-	GAT	85279714	7	5	260	1	0	1	1	0	0	0	0	0	8906	420	15	0	188	0	LPAR3	1	85279714	In_Frame_Ins	INS	-	TCGA-24-1844-01A-01W-0639-09	22823764	85279714	163970907	6	14328											
FLG	2312	genome.wustl.edu	37	1	152283753	152283753	+	Missense_Mutation	SNP	C	C	A	rs141677205	byFrequency	TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:152283753C>A	ENST00000368799.1	-	3	3644	c.3609G>T	c.(3607-3609)agG>agT	p.R1203S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1203	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGCATCAGACCTTCCCTGGG	0.562									Ichthyosis				C|||	9	0.00179712	0	0.0029	5008	,	,		22015	0		0.006	False		,,,				2504	0.001															0			1						C	SER/ARG	7,4399	12.9+/-30.5	0,7,2196	327	333	331		3609	-6.3	0	1	dbSNP_134	331	49,8545	30.7+/-82.3	0,49,4248	no	missense	FLG	NM_002016.1	110	0,56,6444	AA,AC,CC		0.5702,0.1589,0.4308	benign	1203/4062	152283753	56,12944	2203	4297	6500	150550377	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3609G>T	1.37:g.152283753C>A	ENSP00000357789:p.Arg1203Ser		150550377	Q01720|Q5T583|Q9UC71	Splice_Site	SNP	ENST00000368799.1	37	CCDS30860.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	C	6.001	0.368515	0.11352	0.001589	0.005702	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.13	-6.27	0.02026	.	.	.	.	.	T	0.00524	0.0017	M	0.73962	2.25	0.09310	N	1	B	0.29212	0.237	B	0.28305	0.088	T	0.49263	-0.8958	9	0.09590	T	0.72	.	0.5498	0.00661	0.2772:0.1784:0.1375:0.4069	.	1203	P20930	FILA_HUMAN	S	1203	ENSP00000357789:R1203S	ENSP00000357789:R1203S	R	-	3	2	FLG	150550377	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.029000	0.00638	-1.136000	0.02892	0.425000	0.28330	AGG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152283753	C	A	152283753	3	1	260	1	0	0	0	0	1	0	0	0	5922	506	18	3	8580	3	FLG	1	152283753	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	67004039	152283753	96966868	7	14329											
ATP8B2	57198	genome.wustl.edu	37	1	154309855	154309855	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:154309855T>C	ENST00000368489.3	+	12	968	c.968T>C	c.(967-969)aTc>aCc	p.I323T	ATP8B2_ENST00000341822.2_Missense_Mutation_p.I309T|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.I290T	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	309					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGGGGGTGATCCTGGCCATT	0.557																																																0			1											222	196	205					1																	154309855		2203	4300	6503	152576479	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.968T>C	1.37:g.154309855T>C	ENSP00000357475:p.Ile323Thr		152576479	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093873	0.56075	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.90324	-2.65;-2.65;-2.65	5.51	5.51	0.81932	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.93844	0.8031	M	0.79805	2.47	0.50632	D	0.999889	D;D;B	0.60575	0.988;0.986;0.168	D;P;B	0.62955	0.909;0.885;0.085	D	0.94569	0.7769	10	0.72032	D	0.01	.	14.6072	0.68489	0.0:0.0:0.0:1.0	.	309;323;290	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	T	290;323;309	ENSP00000357472:I290T;ENSP00000357475:I323T;ENSP00000340448:I309T	ENSP00000340448:I309T	I	+	2	0	ATP8B2	152576479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.961000	0.56759	2.317000	0.78254	0.459000	0.35465	ATC		0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		C	154309855	T	C	154309855	3	2	260	1	0	0	0	0	1	0	0	0	1195	1435	50	4	1014	4	ATP8B2	1	154309855	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	2026102	154309855	94940766	8	14330											
ISG20L2	81875	genome.wustl.edu	37	1	156697329	156697329	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:156697329C>T	ENST00000313146.6	-	1	898	c.116G>A	c.(115-117)gGc>gAc	p.G39D	ISG20L2_ENST00000368219.1_Missense_Mutation_p.G39D|RRNAD1_ENST00000368216.4_5'Flank|ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	39					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCAGAAAGCCTCTCCGTTC	0.483																																																0			1											73	83	79					1																	156697329		2203	4300	6503	154963953	SO:0001583	missense	81875			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.116G>A	1.37:g.156697329C>T	ENSP00000323424:p.Gly39Asp		154963953	D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901218	0.72754	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.25414	1.8;1.8	5.17	4.18	0.49190	.	1.353990	0.04544	N	0.388757	T	0.19127	0.0459	L	0.34521	1.04	0.28102	N	0.931363	D	0.65815	0.995	P	0.55999	0.789	T	0.04454	-1.0950	10	0.35671	T	0.21	.	7.7708	0.29008	0.0:0.8866:0.0:0.1134	.	39	Q9H9L3	I20L2_HUMAN	D	39	ENSP00000323424:G39D;ENSP00000357202:G39D	ENSP00000323424:G39D	G	-	2	0	ISG20L2	154963953	0.812000	0.29077	0.891000	0.34965	0.993000	0.82548	2.781000	0.47750	2.692000	0.91855	0.655000	0.94253	GGC		0.483	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		T	156697329	C	T	156697329	3	4	260	1	0	0	0	0	1	0	0	0	7855	739	26	2	957	2	ISG20L2	1	156697329	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	2387474	156697329	92553292	9	14331											
RGS4	5999	genome.wustl.edu	37	1	163043320	163043320	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:163043320G>A	ENST00000367909.6	+	4	626	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367906.3_Missense_Mutation_p.E78K|RGS4_ENST00000421743.2_Missense_Mutation_p.E193K|RGS4_ENST00000367908.4_Intron|RGS4_ENST00000531057.1_Missense_Mutation_p.E96K|RGS4_ENST00000527809.1_Missense_Mutation_p.E78K	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	96	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GATCAGCTGTGAAGAGTACAA	0.408																																					Ovarian(76;1257 1738 3039 6086)											0			1											124	115	118					1																	163043320		2203	4300	6503	161309944	SO:0001583	missense	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.286G>A	1.37:g.163043320G>A	ENSP00000356885:p.Glu96Lys		161309944	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327712	0.95733	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000531057;ENST00000527809;ENST00000367906;ENST00000528938	T;T;T;T;T;T	0.68765	-0.35;-0.35;4.37;-0.35;-0.35;4.37	4.79	4.79	0.61399	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82273	0.5001	M	0.90145	3.09	0.47153	D	0.999330	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.86237	0.1641	9	0.87932	D	0	.	15.377	0.74615	0.0:0.0:1.0:0.0	.	96;193	P49798;A7XA59	RGS4_HUMAN;.	K	193;96;96;78;78;78	ENSP00000397181:E193K;ENSP00000356885:E96K;ENSP00000436106:E96K;ENSP00000433261:E78K;ENSP00000356882:E78K;ENSP00000432194:E78K	ENSP00000356882:E78K	E	+	1	0	RGS4	161309944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.658000	0.83755	2.469000	0.83416	0.650000	0.86243	GAA		0.408	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		A	163043320	G	A	163043320	3	1	260	1	0	0	0	0	1	0	0	0	13310	1291	45	2	595	2	RGS4	1	163043320	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	6345991	163043320	86207301	10	14332											
TNR	7143	genome.wustl.edu	37	1	175328794	175328794	+	Silent	SNP	T	T	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:175328794T>A	ENST00000367674.2	-	15	3636	c.2928A>T	c.(2926-2928)ccA>ccT	p.P976P	TNR_ENST00000263525.2_Silent_p.P976P			Q92752	TENR_HUMAN	tenascin R	976	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTCACCCACTGGTGCCTTCC	0.507																																																0			1											130	112	118					1																	175328794		2203	4300	6503	173595417	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2928A>T	1.37:g.175328794T>A			173595417	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175328794	T	A	175328794	2	1	260	1	0	0	0	0	0	0	0	1	16338	1567	55	5		5	TNR	1	175328794	Silent	SNP	T	TCGA-24-1844-01A-01W-0639-09	12285474	175328794	73921827	11	14333											
IL24	11009	genome.wustl.edu	37	1	207072707	207072707	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:207072707G>T	ENST00000294984.2	+	3	361	c.87G>T	c.(85-87)caG>caT	p.Q29H	IL24_ENST00000367093.3_Missense_Mutation_p.Q30H|IL24_ENST00000491169.1_Intron|IL24_ENST00000391929.3_Missense_Mutation_p.Q30H	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	29					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CTCAAATGCAGATGGTTGTGC	0.587																																																0			1											63	63	63					1																	207072707		2203	4300	6503	205139330	SO:0001583	missense	11009			U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"Interleukins and interleukin receptors"	11346	protein-coding gene	gene with protein product	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.87G>T	1.37:g.207072707G>T	ENSP00000294984:p.Gln29His		205139330	Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024538	0.19433	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	T;T	0.20069	2.1;2.1	4.33	2.41	0.29592	.	2.826840	0.00979	N	0.003346	T	0.18215	0.0437	N	0.21448	0.665	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.12156	0.007;0.007;0.007	T	0.28427	-1.0044	10	0.25751	T	0.34	.	10.8901	0.46990	0.0:0.4032:0.5968:0.0	.	30;30;29	Q2YHE5;Q53XZ7;Q13007	.;.;IL24_HUMAN	H	30;29;30	ENSP00000375795:Q30H;ENSP00000294984:Q29H	ENSP00000294984:Q29H	Q	+	3	2	IL24	205139330	0.001000	0.12720	0.002000	0.10522	0.035000	0.12851	0.236000	0.17967	0.548000	0.28955	0.467000	0.42956	CAG		0.587	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		T	207072707	G	T	207072707	3	4	260	1	0	0	0	0	1	0	0	0	7677	933	33	3	96	3	IL24	1	207072707	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	31743913	207072707	42177914	12	14334											
CR1	1378	genome.wustl.edu	37	1	207697090	207697090	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:207697090G>T	ENST00000367049.4	+	5	622	c.622G>T	c.(622-624)Gtg>Ttg	p.V208L	CR1_ENST00000367053.1_Missense_Mutation_p.V208L|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.V208L|CR1_ENST00000367052.1_Missense_Mutation_p.V208L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	208	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTGAGCTTGTGGGTGAGCC	0.522																																																0			1											22	20	21					1																	207697090		1773	4029	5802	205763713	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.622G>T	1.37:g.207697090G>T	ENSP00000356016:p.Val208Leu		205763713	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.69|11.69	1.715040|1.715040	0.30413|0.30413	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T|T;T;T;T;T	0.70749|0.66099	-0.51|-0.19;-0.19;-0.19;-0.19;-0.19	4.23|4.23	-0.00714|-0.00714	0.14010|0.14010	.|Complement control module (2);Sushi/SCR/CCP (3);	.|.	.|.	.|.	.|.	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.46741|0.46741	1.465|1.465	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P	.|0.43477	.|0.506;0.808;0.455;0.506;0.506	.|B;P;B;B;B	.|0.45998	.|0.136;0.5;0.424;0.245;0.245	T|T	0.42932|0.42932	-0.9422|-0.9422	7|9	0.87932|0.16420	D|T	0|0.52	.|.	6.5588|6.5588	0.22476|0.22476	0.4678:0.0:0.5322:0.0|0.4678:0.0:0.5322:0.0	.|.	.|658;208;183;208;208	.|Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.|.;.;.;CR1_HUMAN;.	F|L	183|208	ENSP00000434718:L183F|ENSP00000356019:V208L;ENSP00000356020:V208L;ENSP00000383744:V208L;ENSP00000436139:V208L;ENSP00000356016:V208L	ENSP00000434718:L183F|ENSP00000356016:V208L	L|V	+|+	3|1	2|0	CR1|CR1	205763713|205763713	0.001000|0.001000	0.12720|0.12720	0.006000|0.006000	0.13384|0.13384	0.092000|0.092000	0.18411|0.18411	0.154000|0.154000	0.16343|0.16343	-0.085000|-0.085000	0.12573|0.12573	0.467000|0.467000	0.42956|0.42956	TTG|GTG		0.522	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		T	207697090	G	T	207697090	3	4	260	1	0	0	0	0	1	0	0	0	3840	1377	48	3	640	3	CR1	1	207697090	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	624383	207697090	41553531	13	14335											
PLXNA2	5362	genome.wustl.edu	37	1	208206678	208206678	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:208206678G>T	ENST00000367033.3	-	28	5798	c.5041C>A	c.(5041-5043)Cta>Ata	p.L1681I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1681					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTGGCCAGTAGCCGGGTCAGG	0.582																																																0			1											125	112	116					1																	208206678		2203	4300	6503	206273301	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5041C>A	1.37:g.208206678G>T	ENSP00000356000:p.Leu1681Ile		206273301	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248883	0.95305	.	.	ENSG00000076356	ENST00000367033	T	0.25749	1.78	5.53	5.53	0.82687	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.141593	0.49916	D	0.000140	T	0.64394	0.2594	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74396	-0.3679	10	0.87932	D	0	.	19.4936	0.95062	0.0:0.0:1.0:0.0	.	1681	O75051	PLXA2_HUMAN	I	1681	ENSP00000356000:L1681I	ENSP00000356000:L1681I	L	-	1	2	PLXNA2	206273301	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.659000	0.83766	2.605000	0.88082	0.655000	0.94253	CTA		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208206678	G	T	208206678	3	4	260	1	0	0	0	0	1	0	0	0	12120	962	34	3	663	3	PLXNA2	1	208206678	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	509588	208206678	41043943	14	14336											
USH2A	7399	genome.wustl.edu	37	1	215844479	215844479	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr1:215844479C>A	ENST00000307340.3	-	64	14354	c.13968G>T	c.(13966-13968)ttG>ttT	p.L4656F	USH2A_ENST00000366943.2_Missense_Mutation_p.L4656F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4656	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCTGTCCACAAAAGAGAAA	0.448										HNSCC(13;0.011)																																						0			1											117	116	116					1																	215844479		2203	4300	6503	213911102	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13968G>T	1.37:g.215844479C>A	ENSP00000305941:p.Leu4656Phe		213911102	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	8.571	0.880105	0.17467	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57595	0.39;0.39	5.09	1.91	0.25777	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.965884	0.08353	U	0.959001	T	0.37652	0.1011	L	0.42686	1.345	0.27278	N	0.958179	B	0.11235	0.004	B	0.12837	0.008	T	0.32052	-0.9921	10	0.10111	T	0.7	.	3.1734	0.06560	0.1516:0.566:0.1331:0.1494	.	4656	O75445	USH2A_HUMAN	F	4656	ENSP00000305941:L4656F;ENSP00000355910:L4656F	ENSP00000305941:L4656F	L	-	3	2	USH2A	213911102	0.004000	0.15560	0.521000	0.27850	0.493000	0.33554	-0.008000	0.12788	0.611000	0.30052	0.557000	0.71058	TTG		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	215844479	C	A	215844479	3	1	260	1	0	0	0	0	1	0	0	0	17036	477	17	3	1676	3	USH2A	1	215844479	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	7637801	215844479	33406142	15	14337											
USP34	9736	genome.wustl.edu	37	2	61415362	61415362	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr2:61415362G>A	ENST00000398571.2	-	80	10592	c.10516C>T	c.(10516-10518)Cat>Tat	p.H3506Y	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3506					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTCTGGAATGGCCACAACTG	0.463																																																0			2											75	72	73					2																	61415362		1889	4118	6007	61268866	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10516C>T	2.37:g.61415362G>A	ENSP00000381577:p.His3506Tyr		61268866	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.05|16.05	3.013118|3.013118	0.54468|0.54468	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269|ENST00000411912	T|.	0.03663|.	3.85|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56601|0.56601	0.1996|0.1996	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999997|0.999997	P|.	0.39282|.	0.666|.	B|.	0.26310|.	0.068|.	T|T	0.49447|0.49447	-0.8939|-0.8939	10|5	0.87932|.	D|.	0|.	.|.	19.8041|19.8041	0.96521|0.96521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3506|.	Q70CQ2|.	UBP34_HUMAN|.	Y|L	3354;3271;3506;384|1182	ENSP00000381577:H3506Y|.	ENSP00000263989:H3354Y|.	H|P	-|-	1|2	0|0	USP34|USP34	61268866|61268866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.783000|6.783000	0.75078|0.75078	2.748000|2.748000	0.94277|0.94277	0.591000|0.591000	0.81541|0.81541	CAT|CCA		0.463	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61415362	G	A	61415362	3	1	260	1	0	0	0	0	1	0	0	0	17065	1348	47	2	128	2	USP34	2	61415362	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09		61415362	181784011	16	14338											
DCTN1	1639	genome.wustl.edu	37	2	74593618	74593618	+	Missense_Mutation	SNP	G	G	T	rs527389133		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr2:74593618G>T	ENST00000361874.3	-	22	2913	c.2596C>A	c.(2596-2598)Ctg>Atg	p.L866M	DCTN1_ENST00000394003.3_Missense_Mutation_p.L859M|DCTN1_ENST00000409868.1_Missense_Mutation_p.L849M|DCTN1_ENST00000407639.2_Missense_Mutation_p.L732M|DCTN1_ENST00000409567.3_Missense_Mutation_p.L846M|DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409240.1_Missense_Mutation_p.L829M|DCTN1_ENST00000409438.1_Missense_Mutation_p.L732M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	866					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGTTCCTCCAGAGCAGCCACA	0.592																																																0			2											88	87	87					2																	74593618		2203	4300	6503	74447126	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2596C>A	2.37:g.74593618G>T	ENSP00000354791:p.Leu866Met		74447126	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378769	0.24944	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.22	2.42	0.29668	.	0.000000	0.31438	N	0.007643	T	0.68723	0.3032	L	0.40543	1.245	0.40894	D	0.984095	P;B;B;P;P;B	0.47409	0.693;0.172;0.016;0.556;0.895;0.028	B;B;B;B;B;B	0.38921	0.161;0.045;0.006;0.285;0.221;0.014	T	0.67067	-0.5764	10	0.39692	T	0.17	-5.9273	9.8339	0.40958	0.2333:0.0:0.7667:0.0	.	846;829;866;859;732;732	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	M	866;859;849;732;732;829;849;846	ENSP00000354791:L866M;ENSP00000377571:L859M;ENSP00000384844:L732M;ENSP00000387270:L732M;ENSP00000386406:L829M;ENSP00000387327:L849M;ENSP00000386843:L846M	ENSP00000354791:L866M	L	-	1	2	DCTN1	74447126	0.999000	0.42202	1.000000	0.80357	0.894000	0.52154	2.051000	0.41307	0.790000	0.33803	-0.251000	0.11542	CTG		0.592	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		T	74593618	G	T	74593618	3	4	260	1	0	0	0	0	1	0	0	0	4306	933	33	3	1284	3	DCTN1	2	74593618	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	13178256	74593618	168605755	17	14339											
POLR1A	25885	genome.wustl.edu	37	2	86270117	86270117	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr2:86270117G>A	ENST00000263857.6	-	23	3715	c.3337C>T	c.(3337-3339)Cgc>Tgc	p.R1113C	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1113C			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1113					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCAGGGCTGCGGCCATTGCGG	0.547																																																0			2											92	98	96					2																	86270117		1996	4171	6167	86123628	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3337C>T	2.37:g.86270117G>A	ENSP00000263857:p.Arg1113Cys		86123628	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687092	0.29962	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.67171	-0.25;-0.25	5.6	5.6	0.85130	RNA polymerase Rpb1, domain 5 (1);	0.050705	0.64402	D	0.000001	D	0.83248	0.5213	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.85335	0.1092	10	0.62326	D	0.03	-24.3733	13.5945	0.61982	0.0:0.0:0.7405:0.2594	.	479;1113	B7Z8X7;O95602	.;RPA1_HUMAN	C	1113	ENSP00000263857:R1113C;ENSP00000386300:R1113C	ENSP00000263857:R1113C	R	-	1	0	POLR1A	86123628	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	3.420000	0.52735	2.653000	0.90120	0.561000	0.74099	CGC		0.547	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		A	86270117	G	A	86270117	3	1	260	1	0	0	0	0	1	0	0	0	12209	1116	39	1	1873	1	POLR1A	2	86270117	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	11676499	86270117	156929256	18	14340											
TLK1	9874	genome.wustl.edu	37	2	171906457	171906457	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr2:171906457T>C	ENST00000431350.2	-	10	1251	c.847A>G	c.(847-849)Aca>Gca	p.T283A	TLK1_ENST00000521943.1_Missense_Mutation_p.T235A|TLK1_ENST00000360843.3_Missense_Mutation_p.T304A|TLK1_ENST00000442919.2_Missense_Mutation_p.T235A|TLK1_ENST00000434911.2_Missense_Mutation_p.T187A			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	283					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTTCTTGTGTACTCTGAAAA	0.368																																																0			2											124	118	120					2																	171906457		2203	4300	6503	171614703	SO:0001583	missense	9874			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.847A>G	2.37:g.171906457T>C	ENSP00000411099:p.Thr283Ala		171614703	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808077	0.50421	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.62105	0.07;0.05;0.05;0.07;0.07	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.37630	1.12	0.58432	D	0.999995	B;B;B	0.32731	0.004;0.01;0.382	B;B;B	0.32465	0.005;0.022;0.146	T	0.52087	-0.8622	10	0.32370	T	0.25	-2.9647	16.5655	0.84588	0.0:0.0:0.0:1.0	.	187;304;283	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	A	235;283;304;235;187	ENSP00000402165:T235A;ENSP00000411099:T283A;ENSP00000354089:T304A;ENSP00000428113:T235A;ENSP00000409222:T187A	ENSP00000354089:T304A	T	-	1	0	TLK1	171614703	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.289000	0.72696	2.302000	0.77476	0.533000	0.62120	ACA		0.368	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		C	171906457	T	C	171906457	3	2	260	1	0	0	0	0	1	0	0	0	15943	1638	57	4	1501	4	TLK1	2	171906457	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	85636340	171906457	71292916	19	14341											
ZNF804A	91752	genome.wustl.edu	37	2	185803352	185803352	+	Missense_Mutation	SNP	C	C	A	rs141397832		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr2:185803352C>A	ENST00000302277.6	+	4	3823	c.3229C>A	c.(3229-3231)Cct>Act	p.P1077T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1077							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTCCCACCCCCTAGCACACC	0.502																																																0			2											91	87	88					2																	185803352		2203	4300	6503	185511597	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3229C>A	2.37:g.185803352C>A	ENSP00000303252:p.Pro1077Thr		185511597	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	7.726	0.698156	0.15106	.	.	ENSG00000170396	ENST00000302277	T	0.08807	3.05	4.54	3.62	0.41486	.	0.387124	0.19091	N	0.122962	T	0.11153	0.0272	L	0.58101	1.795	0.09310	N	1	P	0.39480	0.675	B	0.42282	0.382	T	0.09400	-1.0676	10	0.52906	T	0.07	-13.0708	8.0471	0.30555	0.0:0.726:0.1769:0.097	.	1077	Q7Z570	Z804A_HUMAN	T	1077	ENSP00000303252:P1077T	ENSP00000303252:P1077T	P	+	1	0	ZNF804A	185511597	0.008000	0.16893	0.094000	0.20943	0.269000	0.26545	0.546000	0.23284	2.344000	0.79699	0.313000	0.20887	CCT		0.502	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185803352	C	A	185803352	3	1	260	1	0	0	0	0	1	0	0	0	18170	623	22	3	3243	3	ZNF804A	2	185803352	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	13896895	185803352	57396021	20	14342											
NBEAL1	65065	genome.wustl.edu	37	2	204075812	204075812	+	Silent	SNP	T	T	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr2:204075812T>G	ENST00000449802.1	+	53	8163	c.7830T>G	c.(7828-7830)tcT>tcG	p.S2610S		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2610										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATTCCTGTCTATAAGAGATC	0.363																																																0			2											82	77	78					2																	204075812		1819	4081	5900	203784057	SO:0001819	synonymous_variant	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7830T>G	2.37:g.204075812T>G			203784057	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	8.055	0.766835	0.15983	.	.	ENSG00000144426	ENST00000434469	.	.	.	5.19	1.76	0.24704	.	.	.	.	.	T	0.57021	0.2025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47182	-0.9137	4	.	.	.	.	8.3427	0.32254	0.0:0.6577:0.0:0.3423	.	.	.	.	R	138	.	.	L	+	2	0	NBEAL1	203784057	0.997000	0.39634	0.991000	0.47740	0.865000	0.49528	0.544000	0.23253	0.004000	0.14682	0.402000	0.26972	CTA		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			G	204075812	T	G	204075812	2	3	260	1	0	0	0	0	0	0	0	1	10188	1509	53	5		5	NBEAL1	2	204075812	Silent	SNP	T	TCGA-24-1844-01A-01W-0639-09	18272460	204075812	39123561	21	14343											
PIKFYVE	200576	genome.wustl.edu	37	2	209163382	209163382	+	Missense_Mutation	SNP	A	A	C	rs377371097		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr2:209163382A>C	ENST00000264380.4	+	8	1087	c.929A>C	c.(928-930)aAc>aCc	p.N310T	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.N213T|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.N224T|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.N310T	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	310					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGCATTACTAACCTGTCACTG	0.378																																																0			2						A	THR/ASN,THR/ASN,THR/ASN	1,4405	2.1+/-5.4	0,1,2202	116	103	107		638,929,929	5.5	1	2		107	0,8600		0,0,4300	no	missense,missense,missense	PIKFYVE	NM_152671.3,NM_015040.3,NM_001178000.1	65,65,65	0,1,6502	CC,CA,AA		0.0,0.0227,0.0077	benign,benign,benign	213/452,310/2099,310/549	209163382	1,13005	2203	4300	6503	208871627	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.929A>C	2.37:g.209163382A>C	ENSP00000264380:p.Asn310Thr		208871627	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859959	0.71834	2.27E-4	0.0	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.64803	1.62;-0.12;1.78	5.53	5.53	0.82687	.	0.053822	0.64402	D	0.000001	T	0.48677	0.1513	N	0.24115	0.695	0.48395	D	0.999642	B;B;B;B;B	0.23540	0.024;0.087;0.003;0.009;0.02	B;B;B;B;B	0.18871	0.01;0.018;0.007;0.004;0.023	T	0.40979	-0.9534	10	0.26408	T	0.33	-23.8581	15.9435	0.79776	1.0:0.0:0.0:0.0	.	310;310;224;310;213	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	T	213;310;310;224;310	ENSP00000264380:N310T;ENSP00000384356:N310T;ENSP00000405736:N310T	ENSP00000264380:N310T	N	+	2	0	PIKFYVE	208871627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.202000	0.65169	2.217000	0.71921	0.528000	0.53228	AAC		0.378	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		C	209163382	A	C	209163382	3	2	260	1	0	0	0	0	1	0	0	0	11924	43	2	5	955	5	PIKFYVE	2	209163382	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	5087570	209163382	34035991	22	14344											
SLC23A3	151295	genome.wustl.edu	37	2	220034273	220034273	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr2:220034273G>C	ENST00000409878.3	-	2	322	c.290C>G	c.(289-291)tCt>tGt	p.S97C	SLC23A3_ENST00000295738.7_Missense_Mutation_p.S97C|SLC23A3_ENST00000396775.3_Missense_Mutation_p.S39C|SLC23A3_ENST00000455516.2_Missense_Mutation_p.S97C	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	97					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGATGGTAGACATACCACA	0.577																																																0			2											131	138	136					2																	220034273		1959	4149	6108	219742517	SO:0001583	missense	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.290C>G	2.37:g.220034273G>C	ENSP00000386473:p.Ser97Cys		219742517	B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340110	0.41398	.	.	ENSG00000213901	ENST00000396775;ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.18	4.31	0.51392	.	0.197516	0.36519	N	0.002557	T	0.32615	0.0835	L	0.32530	0.975	0.42098	D	0.991321	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77004	0.989;0.989;0.929	T	0.03403	-1.1040	9	.	.	.	.	12.5567	0.56257	0.0812:0.0:0.9188:0.0	.	97;97;97	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	C	39;97;97;97;97	ENSP00000379996:S39C;ENSP00000295738:S97C;ENSP00000386473:S97C;ENSP00000406546:S97C;ENSP00000386989:S97C	.	S	-	2	0	SLC23A3	219742517	1.000000	0.71417	0.683000	0.30040	0.966000	0.64601	4.414000	0.59802	1.431000	0.47355	0.655000	0.94253	TCT		0.577	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		C	220034273	G	C	220034273	3	2	260	1	0	0	0	0	1	0	0	0	14467	942	33	3	1610	3	SLC23A3	2	220034273	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	10870891	220034273	23165100	23	14345											
UGT1A9	54600	genome.wustl.edu	37	2	234580974	234580974	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr2:234580974A>T	ENST00000354728.4	+	1	476	c.394A>T	c.(394-396)Aaa>Taa	p.K132*	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Nonsense_Mutation_p.K132*			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	132					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TAAAGACAAAAAATTAGTAGA	0.323																																																0			2											99	101	100					2																	234580974		2203	4300	6503	234245713	SO:0001587	stop_gained	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.394A>T	2.37:g.234580974A>T	ENSP00000346768:p.Lys132*		234245713	B8K285|P36509|Q9HAX0	Nonsense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192679	0.78902	.	.	ENSG00000241119	ENST00000354728	.	.	.	3.41	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0927	0.06299	0.3641:0.2541:0.3818:0.0	.	.	.	.	X	132	.	ENSP00000346768:K132X	K	+	1	0	UGT1A9	234245713	0.559000	0.26562	0.015000	0.15790	0.509000	0.34042	1.805000	0.38883	0.503000	0.28060	0.362000	0.22060	AAA		0.323	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		T	234580974	A	T	234580974	4	4	260	1	0	0	0	0	0	1	0	0	16952	15	1	5	396	5	UGT1A9	2	234580974	Nonsense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	14546701	234580974	8618399	24	14346											
ATP2B2	491	genome.wustl.edu	37	3	10417120	10417120	+	Silent	SNP	C	C	T	rs556206364		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:10417120C>T	ENST00000352432.4	-	10	1479	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S	ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000360273.2_Silent_p.S470S|ATP2B2_ENST00000343816.4_Silent_p.S456S|ATP2B2_ENST00000397077.1_Silent_p.S425S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	470					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCACCTTCACCGAATAGGCCA	0.622																																					Ovarian(125;1619 1709 15675 19819 38835)											0			3											48	53	51					3																	10417120		2203	4300	6503	10392120	SO:0001819	synonymous_variant	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1410G>A	3.37:g.10417120C>T			10392120	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																				0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		T	10417120	C	T	10417120	2	4	260	1	0	0	0	0	0	0	0	1	1140	639	23	1		1	ATP2B2	3	10417120	Silent	SNP	C	TCGA-24-1844-01A-01W-0639-09		10417120	187605310	25	14347											
GOLGA4	2803	genome.wustl.edu	37	3	37367300	37367300	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:37367300G>C	ENST00000361924.2	+	14	4297	c.3923G>C	c.(3922-3924)aGc>aCc	p.S1308T	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1330T	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1308	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAATTAAGAGCATGAAGGCT	0.368																																																0			3											35	36	35					3																	37367300		2202	4298	6500	37342304	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3923G>C	3.37:g.37367300G>C	ENSP00000354486:p.Ser1308Thr		37342304	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305322	0.23736	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.26223	1.75;1.75;1.75	5.53	2.72	0.32119	.	0.357786	0.20610	N	0.088999	T	0.15176	0.0366	N	0.25426	0.745	0.27396	N	0.954991	B;B;B;B	0.24426	0.103;0.061;0.061;0.008	B;B;B;B	0.23419	0.046;0.015;0.015;0.003	T	0.21861	-1.0233	10	0.20046	T	0.44	.	7.5514	0.27800	0.1641:0.4558:0.3801:0.0	.	1308;1308;1330;1308	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	T	1308;1330;1179	ENSP00000354486:S1308T;ENSP00000349305:S1330T;ENSP00000405842:S1179T	ENSP00000349305:S1330T	S	+	2	0	GOLGA4	37342304	0.782000	0.28689	1.000000	0.80357	0.996000	0.88848	1.147000	0.31602	0.680000	0.31366	0.563000	0.77884	AGC		0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		C	37367300	G	C	37367300	3	2	260	1	0	0	0	0	1	0	0	0	6555	971	34	3	4047	3	GOLGA4	3	37367300	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	26950180	37367300	160655130	26	14348											
WDR6	11180	genome.wustl.edu	37	3	49052115	49052115	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:49052115G>C	ENST00000608424.1	+	5	2905	c.2866G>C	c.(2866-2868)Gtc>Ctc	p.V956L	WDR6_ENST00000415265.2_Missense_Mutation_p.V404L|WDR6_ENST00000448293.1_Missense_Mutation_p.V905L|WDR6_ENST00000395474.3_Missense_Mutation_p.V986L|DALRD3_ENST00000496568.1_5'Flank			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	956					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGACTCCACTGTCCTGGAGCC	0.572											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			3											120	111	114					3																	49052115		2203	4300	6503	49027119	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2866G>C	3.37:g.49052115G>C	ENSP00000477389:p.Val956Leu	959	49027119	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	G	3.380	-0.126557	0.06795	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T	0.59638	0.25;0.26	4.84	1.94	0.25998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.739386	0.13857	N	0.357934	T	0.42607	0.1210	L	0.43152	1.355	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21895	-1.0232	10	0.23891	T	0.37	-2.1526	4.7366	0.12991	0.2627:0.1664:0.5709:0.0	.	404;956;905	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	L	986;404;905	ENSP00000378857:V986L;ENSP00000413432:V905L	ENSP00000378857:V986L	V	+	1	0	WDR6	49027119	0.030000	0.19436	0.025000	0.17156	0.032000	0.12392	0.982000	0.29539	0.674000	0.31244	0.561000	0.74099	GTC		0.572	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			C	49052115	G	C	49052115	3	2	260	1	0	0	0	0	1	0	0	0	17310	1377	48	3	2974	3	WDR6	3	49052115	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	11684815	49052115	148970315	27	14349											
DAG1	1605	genome.wustl.edu	37	3	49568773	49568773	+	Missense_Mutation	SNP	G	G	T	rs375892170		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:49568773G>T	ENST00000539901.1	+	3	1387	c.829G>T	c.(829-831)Gta>Tta	p.V277L	DAG1_ENST00000541308.1_Missense_Mutation_p.V277L|DAG1_ENST00000538711.1_Missense_Mutation_p.V277L|DAG1_ENST00000515359.2_Missense_Mutation_p.V277L|DAG1_ENST00000308775.2_Missense_Mutation_p.V277L|DAG1_ENST00000545947.1_Missense_Mutation_p.V277L	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	277	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATTCATGGTGTAGAGGCCCC	0.587																																																0			3											77	75	76					3																	49568773		2203	4300	6503	49543777	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.829G>T	3.37:g.49568773G>T	ENSP00000439334:p.Val277Leu		49543777	A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328601	0.24167	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.9	5.03	0.67393	.	0.053499	0.64402	D	0.000001	T	0.73552	0.3601	L	0.42245	1.32	0.51233	D	0.999916	D	0.55800	0.973	P	0.47430	0.547	T	0.69917	-0.5015	10	0.15066	T	0.55	-9.5489	14.2	0.65696	0.073:0.0:0.927:0.0	.	277	Q14118	DAG1_HUMAN	L	277;277;277;277;277;277;76	ENSP00000440705:V277L;ENSP00000312435:V277L;ENSP00000442600:V277L;ENSP00000440590:V277L;ENSP00000439334:V277L;ENSP00000438421:V277L	ENSP00000312435:V277L	V	+	1	0	DAG1	49543777	1.000000	0.71417	0.963000	0.40424	0.885000	0.51271	7.914000	0.87478	1.501000	0.48654	0.643000	0.83706	GTA		0.587	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			T	49568773	G	T	49568773	3	4	260	1	0	0	0	0	1	0	0	0	4225	1377	48	3	835	3	DAG1	3	49568773	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	516658	49568773	148453657	28	14350											
ERC2	26059	genome.wustl.edu	37	3	56041292	56041292	+	Silent	SNP	T	T	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:56041292T>G	ENST00000288221.6	-	10	2233	c.1978A>C	c.(1978-1980)Agg>Cgg	p.R660R		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	660						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGGAATCCCTTTTCAGCCCC	0.353																																																0			3											91	75	80					3																	56041292		1806	4076	5882	56016332	SO:0001819	synonymous_variant	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1978A>C	3.37:g.56041292T>G			56016332	Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	T	7.658	0.684394	0.14907	.	.	ENSG00000187672	ENST00000492584	T	0.66460	-0.21	5.81	4.6	0.57074	.	.	.	.	.	T	0.73552	0.3601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74112	-0.3770	6	0.44086	T	0.13	-19.2841	13.3642	0.60674	0.0:0.0:0.2249:0.7751	.	.	.	.	N	298	ENSP00000417280:K298N	ENSP00000417280:K298N	K	-	3	2	ERC2	56016332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.078000	0.64425	2.216000	0.71823	0.533000	0.62120	AAA		0.353	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		G	56041292	T	G	56041292	2	3	260	1	0	0	0	0	0	0	0	1	5211	1608	56	5		5	ERC2	3	56041292	Silent	SNP	T	TCGA-24-1844-01A-01W-0639-09	6472519	56041292	141981138	29	14351											
ROBO2	6092	genome.wustl.edu	37	3	77612450	77612450	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:77612450C>T	ENST00000461745.1	+	11	2552	c.1652C>T	c.(1651-1653)cCa>cTa	p.P551L	ROBO2_ENST00000332191.8_Missense_Mutation_p.P551L|ROBO2_ENST00000487694.3_Missense_Mutation_p.P567L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	551	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGAACCCTTCCAGCAAGTGCA	0.478																																																0			3											100	98	99					3																	77612450		1910	4113	6023	77695140	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1652C>T	3.37:g.77612450C>T	ENSP00000417164:p.Pro551Leu		77695140	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173824	0.78452	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.60171	0.21;0.21;0.21	6.07	6.07	0.98685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000345	T	0.74989	0.3789	M	0.80982	2.52	0.48901	D	0.999727	P;P;P	0.48350	0.909;0.814;0.845	P;P;P	0.54312	0.718;0.748;0.718	T	0.76044	-0.3103	9	0.66056	D	0.02	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	567;551;551	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	567;567;571;551;551;272	ENSP00000417335:P567L;ENSP00000417164:P551L;ENSP00000327536:P551L	ENSP00000327536:P551L	P	+	2	0	ROBO2	77695140	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.037000	0.70956	2.885000	0.99019	0.655000	0.94253	CCA		0.478	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77612450	C	T	77612450	3	4	260	1	0	0	0	0	1	0	0	0	13517	594	21	2	1696	2	ROBO2	3	77612450	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	21571158	77612450	120409980	30	14352											
GPR149	344758	genome.wustl.edu	37	3	154147153	154147153	+	Silent	SNP	C	C	T	rs372519523		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:154147153C>T	ENST00000389740.2	-	1	351	c.252G>A	c.(250-252)tcG>tcA	p.S84S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	84					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGATGGTCACCGACAGGACGC	0.478																																																0			3						C		0,4106		0,0,2053	93	97	96		252	-2.7	1	3		96	1,8417		0,1,4208	no	coding-synonymous	GPR149	NM_001038705.1		0,1,6261	TT,TC,CC		0.0119,0.0,0.0080		84/732	154147153	1,12523	2053	4209	6262	155629847	SO:0001819	synonymous_variant	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.252G>A	3.37:g.154147153C>T			155629847		Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																				0.478	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		T	154147153	C	T	154147153	2	4	260	1	0	0	0	0	0	0	0	1	6654	639	23	1		1	GPR149	3	154147153	Silent	SNP	C	TCGA-24-1844-01A-01W-0639-09	76534703	154147153	43875277	31	14353											
GMPS	8833	genome.wustl.edu	37	3	155643134	155643134	+	Silent	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:155643134A>G	ENST00000496455.2	+	12	1874	c.1539A>G	c.(1537-1539)ccA>ccG	p.P513P	GMPS_ENST00000295920.7_Silent_p.P414P	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	513					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	TCTTGCTGCCAATTAAAACTG	0.408			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0			3											99	97	98					3																	155643134		1901	4125	6026	157125828	SO:0001819	synonymous_variant	8833			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1539A>G	3.37:g.155643134A>G			157125828	A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	CCDS46941.1																																																																																				0.408	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			G	155643134	A	G	155643134	2	3	260	1	0	0	0	0	0	0	0	1	6498	117	5	4		4	GMPS	3	155643134	Silent	SNP	A	TCGA-24-1844-01A-01W-0639-09	1495981	155643134	42379296	32	14354											
GFM1	85476	genome.wustl.edu	37	3	158372415	158372415	+	Missense_Mutation	SNP	C	C	G	rs377068967		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:158372415C>G	ENST00000486715.1	+	8	1435	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	GFM1_ENST00000478576.1_Missense_Mutation_p.L360V|GFM1_ENST00000264263.5_Missense_Mutation_p.L379V	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GGCTTTTAAACTGGAGGTAAG	0.323																																																0			3											73	76	75					3																	158372415		2203	4299	6502	159855109	SO:0001583	missense	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1078C>G	3.37:g.158372415C>G	ENSP00000419038:p.Leu360Val		159855109		Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591979	0.66219	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263;ENST00000312756	T;T;T	0.80824	-1.42;-1.42;-1.42	5.66	1.9	0.25705	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.64402	D	0.000001	D	0.85173	0.5636	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	T	0.82930	-0.0213	10	0.59425	D	0.04	-0.1238	10.5645	0.45165	0.0:0.7382:0.0:0.2618	.	379;360;360	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	V	360;360;379;94	ENSP00000419038:L360V;ENSP00000418755:L360V;ENSP00000264263:L379V	ENSP00000264263:L379V	L	+	1	2	GFM1	159855109	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.179000	0.31993	0.056000	0.16144	-0.137000	0.14449	CTG		0.323	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		G	158372415	C	G	158372415	3	3	260	1	0	0	0	0	1	0	0	0	6341	564	20	3	1108	3	GFM1	3	158372415	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	2729281	158372415	39650015	33	14355											
SI	6476	genome.wustl.edu	37	3	164754198	164754198	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:164754198A>C	ENST00000264382.3	-	22	2556	c.2494T>G	c.(2494-2496)Tgg>Ggg	p.W832G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	832	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCATCATCCCAGAAAAAGTCT	0.353										HNSCC(35;0.089)																																						0			3											115	118	117					3																	164754198		2203	4300	6503	166236892	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2494T>G	3.37:g.164754198A>C	ENSP00000264382:p.Trp832Gly		166236892	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727144	0.69074	.	.	ENSG00000090402	ENST00000264382	D	0.89746	-2.56	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.95373	0.8498	M	0.92880	3.355	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96231	0.9168	10	0.87932	D	0	.	13.2365	0.59972	1.0:0.0:0.0:0.0	.	832	P14410	SUIS_HUMAN	G	832	ENSP00000264382:W832G	ENSP00000264382:W832G	W	-	1	0	SI	166236892	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.916000	0.87491	2.010000	0.58986	0.528000	0.53228	TGG		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		C	164754198	A	C	164754198	3	2	260	1	0	0	0	0	1	0	0	0	14300	188	7	5	3097	5	SI	3	164754198	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	6381783	164754198	33268232	34	14356											
NDUFB5	4711	genome.wustl.edu	37	3	179333775	179333775	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:179333775T>A	ENST00000259037.3	+	3	332	c.218T>A	c.(217-219)tTc>tAc	p.F73Y	NDUFB5_ENST00000472629.1_Missense_Mutation_p.F61Y|snoU13_ENST00000459278.1_RNA|NDUFB5_ENST00000473500.1_Intron|NDUFB5_ENST00000493866.1_Intron	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	73					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TCTTAGAGATTCTACATTGCA	0.373																																																0			3											76	73	74					3																	179333775		2203	4300	6503	180816469	SO:0001583	missense	4711			AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"Mitochondrial respiratory chain complex / Complex I"	7700	protein-coding gene	gene with protein product	"complex I SGDH subunit"	603841	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.218T>A	3.37:g.179333775T>A	ENSP00000259037:p.Phe73Tyr		180816469	Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.76|19.76	3.887634|3.887634	0.72410|0.72410	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000259037;ENST00000472629|ENST00000482604	T;T|.	0.50548|.	0.74;0.74|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.095927|.	0.64402|.	D|.	0.000001|.	T|T	0.69459|0.69459	0.3113|0.3113	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.31485|.	0.325|.	B|.	0.38264|.	0.269|.	T|T	0.69038|0.69038	-0.5251|-0.5251	10|5	0.41790|.	T|.	0.15|.	-12.3586|-12.3586	12.9542|12.9542	0.58416|0.58416	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	73|.	O43674|.	NDUB5_HUMAN|.	Y|T	73;61|90	ENSP00000259037:F73Y;ENSP00000419248:F61Y|.	ENSP00000259037:F73Y|.	F|S	+|+	2|1	0|0	NDUFB5|NDUFB5	180816469|180816469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.194000|2.194000	0.42668|0.42668	2.009000|2.009000	0.58944|0.58944	0.459000|0.459000	0.35465|0.35465	TTC|TCT		0.373	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		A	179333775	T	A	179333775	3	1	260	1	0	0	0	0	1	0	0	0	10284	1783	62	5	228	5	NDUFB5	3	179333775	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	14579577	179333775	18688655	35	14357											
HTR3C	170572	genome.wustl.edu	37	3	183774688	183774688	+	Missense_Mutation	SNP	G	G	A	rs201628957		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr3:183774688G>A	ENST00000318351.1	+	5	449	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	139					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GACGCCTTCCGGTCTCACTGC	0.502													G|||	1	0.000199681	0	0	5008	,	,		18506	0.001		0	False		,,,				2504	0															0			3											159	139	146					3																	183774688		2203	4300	6503	185257382	SO:0001583	missense	170572			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.415G>A	3.37:g.183774688G>A	ENSP00000322617:p.Gly139Ser		185257382	A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	CCDS3250.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	10.90	1.482187	0.26598	.	.	ENSG00000178084	ENST00000318351	T	0.77489	-1.1	4.79	3.89	0.44902	Neurotransmitter-gated ion-channel ligand-binding (3);	0.786148	0.12335	N	0.477992	T	0.73575	0.3604	L	0.55743	1.74	0.09310	N	1	P	0.45672	0.864	B	0.43018	0.405	T	0.60094	-0.7330	10	0.21540	T	0.41	-2.0299	11.2641	0.49099	0.0:0.3588:0.6412:0.0	.	139	Q8WXA8	5HT3C_HUMAN	S	139	ENSP00000322617:G139S	ENSP00000322617:G139S	G	+	1	0	HTR3C	185257382	0.000000	0.05858	0.011000	0.14972	0.304000	0.27724	0.211000	0.17474	1.206000	0.43276	0.561000	0.74099	GGT		0.502	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		A	183774688	G	A	183774688	3	1	260	1	0	0	0	0	1	0	0	0	7446	1116	39	1	433	1	HTR3C	3	183774688	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	4440913	183774688	14247742	36	14358											
TBC1D14	57533	genome.wustl.edu	37	4	6969104	6969104	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr4:6969104G>A	ENST00000409757.4	+	3	920	c.796G>A	c.(796-798)Gcg>Acg	p.A266T	TBC1D14_ENST00000410031.1_Missense_Mutation_p.A38T|TBC1D14_ENST00000448507.1_Missense_Mutation_p.A266T	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	266					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ATTTGGGAAAGCGCCACTCCG	0.398																																																0			4											102	98	99					4																	6969104		2203	4300	6503	7020005	SO:0001583	missense	57533			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.796G>A	4.37:g.6969104G>A	ENSP00000386921:p.Ala266Thr		7020005	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323729	0.24080	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031	T;T;T	0.04970	3.64;3.64;3.52	5.61	2.97	0.34412	.	0.770342	0.11821	N	0.526252	T	0.04048	0.0113	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38478	-0.9659	10	0.45353	T	0.12	-3.6022	5.4117	0.16352	0.1668:0.0:0.673:0.1602	.	266	Q9P2M4	TBC14_HUMAN	T	266;266;38	ENSP00000404041:A266T;ENSP00000386921:A266T;ENSP00000386343:A38T	ENSP00000386921:A266T	A	+	1	0	TBC1D14	7020005	1.000000	0.71417	0.468000	0.27192	0.153000	0.21895	1.702000	0.37836	0.324000	0.23333	-0.224000	0.12420	GCG		0.398	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		A	6969104	G	A	6969104	3	1	260	1	0	0	0	0	1	0	0	0	15603	971	34	2	802	2	TBC1D14	4	6969104	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09		6969104	184185172	37	14359											
LRRC66	339977	genome.wustl.edu	37	4	52861381	52861381	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr4:52861381T>C	ENST00000343457.3	-	4	1813	c.1807A>G	c.(1807-1809)Agt>Ggt	p.S603G		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	603						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTTCCTTACTATCTCCAGTC	0.448																																																0			4											78	80	79					4																	52861381		1975	4185	6160	52556138	SO:0001583	missense	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1807A>G	4.37:g.52861381T>C	ENSP00000341944:p.Ser603Gly		52556138		Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	5.606	0.296531	0.10622	.	.	ENSG00000188993	ENST00000343457	T	0.30981	1.51	4.12	1.52	0.23074	.	0.964518	0.08535	N	0.931479	T	0.17152	0.0412	N	0.24115	0.695	0.09310	N	1	P	0.39480	0.675	B	0.26094	0.066	T	0.11397	-1.0589	10	0.48119	T	0.1	1.0511	9.1004	0.36664	0.0:0.0:0.3484:0.6516	.	603	Q68CR7	LRC66_HUMAN	G	603	ENSP00000341944:S603G	ENSP00000341944:S603G	S	-	1	0	LRRC66	52556138	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.662000	0.25038	0.212000	0.20703	0.482000	0.46254	AGT		0.448	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		C	52861381	T	C	52861381	3	2	260	1	0	0	0	0	1	0	0	0	9018	1522	53	4	839	4	LRRC66	4	52861381	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	45892277	52861381	138292895	38	14360											
YTHDC1	91746	genome.wustl.edu	37	4	69195973	69195973	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr4:69195973G>C	ENST00000344157.4	-	8	1513	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C	YTHDC1_ENST00000355665.3_Missense_Mutation_p.S375C|YTHDC1_ENST00000579690.1_Missense_Mutation_p.S393C	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	393	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTCCTTGCAGATCTAAATGC	0.294																																																0			4											32	33	32					4																	69195973		2197	4283	6480	68878568	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1178C>G	4.37:g.69195973G>C	ENSP00000339245:p.Ser393Cys		68878568	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633781	0.67130	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.32988	1.43;1.43	5.44	5.44	0.79542	YTH domain (2);	0.115897	0.64402	D	0.000011	T	0.56108	0.1963	M	0.70595	2.14	0.80722	D	1	D;D	0.69078	0.976;0.997	P;D	0.66196	0.863;0.942	T	0.59193	-0.7500	10	0.87932	D	0	.	19.2624	0.93973	0.0:0.0:1.0:0.0	.	375;393	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	C	393;375	ENSP00000339245:S393C;ENSP00000347888:S375C	ENSP00000339245:S393C	S	-	2	0	YTHDC1	68878568	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.414000	0.97362	2.565000	0.86533	0.591000	0.81541	TCT		0.294	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		C	69195973	G	C	69195973	3	2	260	1	0	0	0	0	1	0	0	0	17496	942	33	3	1045	3	YTHDC1	4	69195973	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	16334592	69195973	121958303	39	14361											
SCD5	79966	genome.wustl.edu	37	4	83557769	83557769	+	Silent	SNP	G	G	A	rs145735011		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr4:83557769G>A	ENST00000319540.4	-	4	1096	c.777C>T	c.(775-777)aaC>aaT	p.N259N		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	259					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CGACGAGTGGGTTCTGCCGAG	0.562																																																0			4						G		1,4405	2.1+/-5.4	0,1,2202	106	94	98		777	5.1	1	4	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	SCD5	NM_001037582.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		259/331	83557769	1,13005	2203	4300	6503	83776793	SO:0001819	synonymous_variant	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.777C>T	4.37:g.83557769G>A			83776793	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	ENST00000319540.4	37	CCDS34024.1																																																																																				0.562	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		A	83557769	G	A	83557769	2	1	260	1	0	0	0	0	0	0	0	1	13890	1252	44	2		2	SCD5	4	83557769	Silent	SNP	G	TCGA-24-1844-01A-01W-0639-09	14361796	83557769	107596507	40	14362											
ADH5	128	genome.wustl.edu	37	4	99997898	99997898	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr4:99997898C>A	ENST00000296412.8	-	5	571	c.521G>T	c.(520-522)tGt>tTt	p.C174F	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide									p.C174Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		TGAAATGCCACAACCTAGAAG	0.413																																																1	Substitution - Missense(1)	large_intestine(1)	4											72	66	68					4																	99997898		1897	4128	6025	100216921	SO:0001583	missense	128			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"Alcohol dehydrogenases"	253	protein-coding gene	gene with protein product		103710	"formaldehyde dehydrogenase"	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.521G>T	4.37:g.99997898C>A	ENSP00000296412:p.Cys174Phe		100216921		Missense_Mutation	SNP	ENST00000296412.8	37	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607987	0.87258	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.25085	1.82;1.82	5.1	5.1	0.69264	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	H	0.99959	5.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87894	0.2686	9	.	.	.	-28.9543	19.0691	0.93125	0.0:1.0:0.0:0.0	.	174;174;174	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	F	174;161	ENSP00000296412:C174F;ENSP00000427049:C161F	.	C	-	2	0	ADH5	100216921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.802000	0.75175	2.822000	0.97130	0.650000	0.86243	TGT		0.413	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		A	99997898	C	A	99997898	3	1	260	1	0	0	0	0	1	0	0	0	311	478	17	3	623	3	ADH5	4	99997898	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	16440129	99997898	91156378	41	14363											
DKK2	27123	genome.wustl.edu	37	4	107845203	107845203	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr4:107845203G>A	ENST00000285311.3	-	4	1393	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	DKK2_ENST00000513208.1_Missense_Mutation_p.R130C|DKK2_ENST00000510463.1_Missense_Mutation_p.R184C	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R230C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CAGTCGCAACGCTGGAAAATT	0.483																																																1	Substitution - Missense(1)	large_intestine(1)	4											158	145	149					4																	107845203		2203	4300	6503	108064652	SO:0001583	missense	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.688C>T	4.37:g.107845203G>A	ENSP00000285311:p.Arg230Cys		108064652	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.742934	0.69418	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.57907	0.37;0.5;0.52	5.64	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.77040	-0.2735	10	0.87932	D	0	-11.8314	13.5124	0.61519	0.0:0.0:0.5801:0.4199	.	230	Q9UBU2	DKK2_HUMAN	C	230;130;184	ENSP00000285311:R230C;ENSP00000421255:R130C;ENSP00000423797:R184C	ENSP00000285311:R230C	R	-	1	0	DKK2	108064652	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	4.419000	0.59835	1.320000	0.45209	0.585000	0.79938	CGT		0.483	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			A	107845203	G	A	107845203	3	1	260	1	0	0	0	0	1	0	0	0	4545	1087	38	1	95	1	DKK2	4	107845203	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	7847305	107845203	83309073	42	14364											
LARP7	51574	genome.wustl.edu	37	4	113568369	113568369	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr4:113568369A>G	ENST00000344442.5	+	7	939	c.661A>G	c.(661-663)Aaa>Gaa	p.K221E	MIR367_ENST00000362299.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.K228E|MIR302D_ENST00000362275.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.K221E|MIR302B_ENST00000509938.1_RNA|MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000362188.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	221	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		gaagaaaaagaaaaagaagaa	0.338																																																0			4											68	66	67					4																	113568369		1839	4086	5925	113787818	SO:0001583	missense	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.661A>G	4.37:g.113568369A>G	ENSP00000344950:p.Lys221Glu		113787818	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024876	0.35701	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000505034;ENST00000324052	T;T;T;T	0.19669	2.13;2.13;2.14;2.13	5.86	5.86	0.93980	.	0.327863	0.37623	N	0.002013	T	0.25754	0.0627	M	0.71581	2.175	0.51233	D	0.999918	P;B	0.40250	0.709;0.434	B;B	0.39617	0.305;0.099	T	0.05402	-1.0887	10	0.15952	T	0.53	-18.9839	14.4606	0.67445	1.0:0.0:0.0:0.0	.	221;221	D6RFF0;Q4G0J3	.;LARP7_HUMAN	E	221;228;221;221	ENSP00000344950:K221E;ENSP00000422626:K228E;ENSP00000421541:K221E;ENSP00000314311:K221E	ENSP00000314311:K221E	K	+	1	0	LARP7	113787818	1.000000	0.71417	0.988000	0.46212	0.911000	0.54048	2.268000	0.43338	2.238000	0.73509	0.460000	0.39030	AAA		0.338	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		G	113568369	A	G	113568369	3	3	260	1	0	0	0	0	1	0	0	0	8633	247	9	4	683	4	LARP7	4	113568369	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	5723166	113568369	77585907	43	14365											
PRDM9	56979	genome.wustl.edu	37	5	23509630	23509630	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:23509630G>A	ENST00000296682.3	+	3	303	c.121G>A	c.(121-123)Gca>Aca	p.A41T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	41	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAAGAATGGGCAGAGATGGG	0.423										HNSCC(3;0.000094)																																						0			5											210	197	201					5																	23509630		1867	4116	5983	23545387	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.121G>A	5.37:g.23509630G>A	ENSP00000296682:p.Ala41Thr		23545387	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975414	0.34848	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.01821	4.62;4.62	2.76	-0.221	0.13126	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.01730	0.0055	L	0.37561	1.115	0.23204	N	0.998127	B	0.24920	0.114	B	0.21917	0.037	T	0.44574	-0.9319	9	0.46703	T	0.11	.	5.9971	0.19499	0.3207:0.0:0.6793:0.0	.	41	Q9NQV7	PRDM9_HUMAN	T	41	ENSP00000425471:A41T;ENSP00000296682:A41T	ENSP00000296682:A41T	A	+	1	0	PRDM9	23545387	0.998000	0.40836	0.958000	0.39756	0.921000	0.55340	0.670000	0.25157	-0.070000	0.12908	0.609000	0.83330	GCA		0.423	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23509630	G	A	23509630	3	1	260	1	0	0	0	0	1	0	0	0	12466	1203	42	2	127	2	PRDM9	5	23509630	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09		23509630	157405630	44	14366											
BHMT	635	genome.wustl.edu	37	5	78416291	78416291	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:78416291C>A	ENST00000274353.5	+	4	511	c.404C>A	c.(403-405)aCt>aAt	p.T135N	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	135	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AAGAGTGAAACTGAAGTCAAA	0.443																																																0			5											77	68	71					5																	78416291		2203	4300	6503	78452047	SO:0001583	missense	635			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.404C>A	5.37:g.78416291C>A	ENSP00000274353:p.Thr135Asn		78452047	Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	c	0.135	-1.108897	0.01813	.	.	ENSG00000145692	ENST00000274353	T	0.28895	1.59	5.22	1.3	0.21679	Homocysteine S-methyltransferase (4);	0.873904	0.10635	N	0.651679	T	0.24736	0.0600	L	0.43152	1.355	0.09310	N	0.999999	B	0.09022	0.002	B	0.14023	0.01	T	0.27502	-1.0072	10	0.59425	D	0.04	-24.3335	6.1488	0.20301	0.0:0.6018:0.1234:0.2748	.	135	Q93088	BHMT1_HUMAN	N	135	ENSP00000274353:T135N	ENSP00000274353:T135N	T	+	2	0	BHMT	78452047	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.048000	0.14078	0.018000	0.15052	-1.000000	0.02509	ACT		0.443	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		A	78416291	C	A	78416291	3	1	260	1	0	0	0	0	1	0	0	0	1425	565	20	3	418	3	BHMT	5	78416291	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	54906661	78416291	102498969	45	14367											
PAPD4	167153	genome.wustl.edu	37	5	78940990	78940990	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:78940990A>G	ENST00000296783.3	+	9	1095	c.796A>G	c.(796-798)Att>Gtt	p.I266V	PAPD4_ENST00000423041.2_Missense_Mutation_p.I262V|PAPD4_ENST00000453514.1_Missense_Mutation_p.I266V|PAPD4_ENST00000504233.1_Missense_Mutation_p.I266V|PAPD4_ENST00000428308.2_Missense_Mutation_p.I266V			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	266					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AAAAGTGCCAATTGTGAAGTT	0.333																																																0			5											99	101	100					5																	78940990		2203	4300	6503	78976746	SO:0001583	missense	167153			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.796A>G	5.37:g.78940990A>G	ENSP00000296783:p.Ile266Val		78976746	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647503	0.87958	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.994	D;D;D	0.91635	0.968;0.999;0.987	T	0.73344	-0.4012	10	0.72032	D	0.01	-14.6921	15.9846	0.80142	1.0:0.0:0.0:0.0	.	266;262;266	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	V	266;262;266;266;266	ENSP00000397563:I266V;ENSP00000393412:I262V;ENSP00000421966:I266V;ENSP00000396861:I266V;ENSP00000296783:I266V	ENSP00000296783:I266V	I	+	1	0	PAPD4	78976746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.874000	0.92363	2.172000	0.68678	0.467000	0.42956	ATT		0.333	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		G	78940990	A	G	78940990	3	3	260	1	0	0	0	0	1	0	0	0	11424	101	4	4	822	4	PAPD4	5	78940990	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	524699	78940990	101974270	46	14368											
ARRDC3	57561	genome.wustl.edu	37	5	90670857	90670857	+	Missense_Mutation	SNP	C	C	T	rs371971226		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:90670857C>T	ENST00000265138.3	-	5	1018	c.752G>A	c.(751-753)cGt>cAt	p.R251H	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	251					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGATTCCCCACGCAAGTTAGC	0.468																																																0			5						C	HIS/ARG	0,4406		0,0,2203	130	111	118		752	6	1	5		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARRDC3	NM_020801.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	251/415	90670857	1,13005	2203	4300	6503	90706613	SO:0001583	missense	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.752G>A	5.37:g.90670857C>T	ENSP00000265138:p.Arg251His		90706613	A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	C	35	5.550814	0.96501	0.0	1.16E-4	ENSG00000113369	ENST00000265138	T	0.07021	3.23	5.98	5.98	0.97165	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00024	-1.2326	10	0.51188	T	0.08	-42.548	20.452	0.99131	0.0:1.0:0.0:0.0	.	251	Q96B67	ARRD3_HUMAN	H	251	ENSP00000265138:R251H	ENSP00000265138:R251H	R	-	2	0	ARRDC3	90706613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.838000	0.97847	0.591000	0.81541	CGT		0.468	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		T	90670857	C	T	90670857	3	4	260	1	0	0	0	0	1	0	0	0	984	536	19	1	508	1	ARRDC3	5	90670857	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	11729867	90670857	90244403	47	14369											
ADAMTS19	171019	genome.wustl.edu	37	5	128977612	128977612	+	Silent	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:128977612C>T	ENST00000274487.4	+	11	1958	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	605	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGAACCAAGCTAGACCCACC	0.398																																																0			5											236	192	207					5																	128977612		2203	4300	6503	129005511	SO:0001819	synonymous_variant	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1813C>T	5.37:g.128977612C>T			129005511		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.398	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		T	128977612	C	T	128977612	2	4	260	1	0	0	0	0	0	0	0	1	264	796	28	2		2	ADAMTS19	5	128977612	Silent	SNP	C	TCGA-24-1844-01A-01W-0639-09	38306755	128977612	51937648	48	14370											
KLHL3	26249	genome.wustl.edu	37	5	136961542	136961542	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:136961542A>T	ENST00000309755.4	-	14	2078	c.1635T>A	c.(1633-1635)gaT>gaA	p.D545E	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000508657.1_Missense_Mutation_p.D513E|KLHL3_ENST00000506491.1_Missense_Mutation_p.D463E|KLHL3_ENST00000541417.1_3'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	545					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AGGATCCATCATCCCCTCCAA	0.522																																																0			5											220	178	192					5																	136961542		2203	4300	6503	136989441	SO:0001583	missense	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1635T>A	5.37:g.136961542A>T	ENSP00000312397:p.Asp545Glu		136989441	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779330	0.70107	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755	T;T;T	0.77620	-1.11;-1.11;-1.11	4.59	-0.494	0.12034	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	N	0.12920	0.275	0.80722	D	1	D;D	0.59767	0.986;0.958	P;D	0.66979	0.85;0.948	T	0.65932	-0.6048	10	0.30078	T	0.28	.	9.5128	0.39087	0.6327:0.0:0.3673:0.0	.	280;545	B7Z6E2;Q9UH77	.;KLHL3_HUMAN	E	463;513;545	ENSP00000424828:D463E;ENSP00000422099:D513E;ENSP00000312397:D545E	ENSP00000312397:D545E	D	-	3	2	KLHL3	136989441	1.000000	0.71417	0.995000	0.50966	0.902000	0.53008	0.859000	0.27858	-0.227000	0.09884	-0.441000	0.05720	GAT		0.522	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			T	136961542	A	T	136961542	3	4	260	1	0	0	0	0	1	0	0	0	8383	214	8	5	136	5	KLHL3	5	136961542	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	7983930	136961542	43953718	49	14371											
BRD8	10902	genome.wustl.edu	37	5	137495282	137495282	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:137495282C>G	ENST00000254900.5	-	20	2910	c.2539G>C	c.(2539-2541)Gtc>Ctc	p.V847L	BRD8_ENST00000411594.2_Intron|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000402931.1_Missense_Mutation_p.V847L|BRD8_ENST00000230901.5_Missense_Mutation_p.V920L|BRD8_ENST00000455658.2_Missense_Mutation_p.V806L	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	847					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCCATTGGGACACTGTCCTGT	0.502																																																0			5											104	91	95					5																	137495282		2203	4300	6503	137523181	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2539G>C	5.37:g.137495282C>G	ENSP00000254900:p.Val847Leu		137523181	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097350	0.76870	.	.	ENSG00000112983	ENST00000254900;ENST00000230901;ENST00000402931;ENST00000455658	T;T;T;T	0.31247	1.64;1.52;1.51;1.5	5.14	5.14	0.70334	.	0.199523	0.42964	D	0.000621	T	0.22898	0.0553	L	0.27053	0.805	0.80722	D	1	P;P;B;B;P	0.43750	0.663;0.473;0.134;0.234;0.816	B;B;B;B;B	0.36244	0.22;0.1;0.018;0.087;0.142	T	0.03545	-1.1026	10	0.46703	T	0.11	-7.3853	17.3518	0.87327	0.0:1.0:0.0:0.0	.	806;831;626;920;847	F8W820;B4DN43;B4DMS9;Q9H0E9-2;Q9H0E9	.;.;.;.;BRD8_HUMAN	L	847;920;847;806	ENSP00000254900:V847L;ENSP00000230901:V920L;ENSP00000384845:V847L;ENSP00000408396:V806L	ENSP00000230901:V920L	V	-	1	0	BRD8	137523181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.971000	0.63749	2.671000	0.90904	0.655000	0.94253	GTC		0.502	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		G	137495282	C	G	137495282	3	3	260	1	0	0	0	0	1	0	0	0	1506	478	17	3	1264	3	BRD8	5	137495282	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	533740	137495282	43419978	50	14372											
EGR1	1958	genome.wustl.edu	37	5	137801523	137801523	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:137801523C>G	ENST00000239938.4	+	1	345	c.73C>G	c.(73-75)Cac>Gac	p.H25D		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	25					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATCCTTTCCTCACTCGCCCAC	0.657																																																0			5											84	75	78					5																	137801523		2203	4300	6503	137829422	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.73C>G	5.37:g.137801523C>G	ENSP00000239938:p.His25Asp		137829422		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	c	19.21	3.782949	0.70222	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.14766	2.48	5.0	5.0	0.66597	.	0.053619	0.85682	D	0.000000	T	0.33876	0.0878	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.963	D;P	0.68621	0.959;0.715	T	0.03259	-1.1055	10	0.87932	D	0	-12.9225	18.4687	0.90765	0.0:1.0:0.0:0.0	.	25;25	B4DNX4;P18146	.;EGR1_HUMAN	D	25	ENSP00000239938:H25D	ENSP00000239938:H25D	H	+	1	0	EGR1	137829422	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.073000	0.76784	2.601000	0.87937	0.486000	0.48141	CAC		0.657	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		G	137801523	C	G	137801523	3	3	260	1	0	0	0	0	1	0	0	0	4971	826	29	3	75	3	EGR1	5	137801523	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	306241	137801523	43113737	51	14373											
PCDHGA6	56109	genome.wustl.edu	37	5	140755037	140755037	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:140755037G>A	ENST00000517434.1	+	1	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGTCCTTGAAAACAACCC	0.527																																																0			5											138	151	147					5																	140755037		2038	4213	6251	140735221	SO:0001583	missense	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1387G>A	5.37:g.140755037G>A	ENSP00000429601:p.Glu463Lys		140735221	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	17.51	3.406921	0.62399	.	.	ENSG00000253731	ENST00000517434	T	0.76316	-1.01	5.13	5.13	0.70059	Cadherin (4);Cadherin-like (1);	0.000000	0.31301	U	0.007895	D	0.93458	0.7913	H	0.98965	4.385	0.44194	D	0.997015	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95691	0.8740	10	0.87932	D	0	.	19.1356	0.93426	0.0:0.0:1.0:0.0	.	463;463	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	K	463	ENSP00000429601:E463K	ENSP00000429601:E463K	E	+	1	0	PCDHGA6	140735221	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	7.831000	0.86748	2.826000	0.97356	0.655000	0.94253	GAA		0.527	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		A	140755037	G	A	140755037	3	1	260	1	0	0	0	0	1	0	0	0	11558	1291	45	2	1389	2	PCDHGA6	5	140755037	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	2953514	140755037	40160223	52	14374											
PCDHGA8	9708	genome.wustl.edu	37	5	140774126	140774126	+	Silent	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:140774126A>G	ENST00000398604.2	+	1	1746	c.1746A>G	c.(1744-1746)gcA>gcG	p.A582A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCTCCGCAGAGCGTGGCT	0.682																																																0			5											74	86	82					5																	140774126		2201	4299	6500	140754310	SO:0001819	synonymous_variant	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1746A>G	5.37:g.140774126A>G			140754310	A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	CCDS47291.1																																																																																				0.682	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		G	140774126	A	G	140774126	2	3	260	1	0	0	0	0	0	0	0	1	11560	175	7	4		4	PCDHGA8	5	140774126	Silent	SNP	A	TCGA-24-1844-01A-01W-0639-09	19089	140774126	40141134	53	14375											
SPINK14	408187	genome.wustl.edu	37	5	147549315	147549315	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:147549315T>A	ENST00000356972.1	+	1	20	c.20T>A	c.(19-21)gTa>gAa	p.V7E	SPINK14_ENST00000562793.1_Missense_Mutation_p.V7E	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	7						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|large_intestine(1)|lung(1)	3						TCTTTCCCAGTATTCTCACTT	0.393																																																0			5											222	200	207					5																	147549315		2203	4300	6503	147529508	SO:0001583	missense	408187				CCDS4288.1	5q32	2011-08-31			ENSG00000196800	ENSG00000196800		"Serine peptidase inhibitors, Kazal type"	33825	protein-coding gene	gene with protein product							Standard	NM_001001325		Approved	SPINK5L2	uc031sls.1	Q6IE38	OTTHUMG00000129732	ENST00000356972.1:c.20T>A	5.37:g.147549315T>A	ENSP00000349459:p.Val7Glu		147529508		Missense_Mutation	SNP	ENST00000356972.1	37	CCDS4288.1	.	.	.	.	.	.	.	.	.	.	T	8.950	0.967947	0.18659	.	.	ENSG00000196800	ENST00000356972	D	0.88586	-2.4	3.5	1.02	0.19986	.	2.775880	0.02616	N	0.102687	D	0.82838	0.5124	.	.	.	0.09310	N	1	B	0.30021	0.265	B	0.28139	0.086	T	0.70096	-0.4966	9	0.72032	D	0.01	-0.0046	3.7232	0.08465	0.0:0.1201:0.2237:0.6562	.	7	Q6IE38	ISK14_HUMAN	E	7	ENSP00000349459:V7E	ENSP00000349459:V7E	V	+	2	0	SPINK14	147529508	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	0.717000	0.25851	0.219000	0.20840	-0.387000	0.06579	GTA		0.393	SPINK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251943.2	NM_001001325		A	147549315	T	A	147549315	3	1	260	1	0	0	0	0	1	0	0	0	15061	1638	57	5	22	5	SPINK14	5	147549315	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	6775189	147549315	33365945	54	14376											
ARSI	340075	genome.wustl.edu	37	5	149677244	149677244	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:149677244C>T	ENST00000328668.7	-	2	1822	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	415					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.V415L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGCCTGCACGGCGGTGTTC	0.637																																																1	Substitution - Missense(1)	lung(1)	5											34	38	37					5																	149677244		2203	4299	6502	149657437	SO:0001583	missense	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1243G>A	5.37:g.149677244C>T	ENSP00000333395:p.Val415Met		149657437	A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730768	0.48939	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97731	-4.51;-4.51	4.59	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	L	0.46741	1.465	0.58432	D	0.999999	D	0.59767	0.986	P	0.60886	0.88	D	0.97256	0.9901	10	0.35671	T	0.21	.	17.5928	0.88001	0.0:1.0:0.0:0.0	.	415	Q5FYB1	ARSI_HUMAN	M	415;272	ENSP00000333395:V415M;ENSP00000426879:V272M	ENSP00000333395:V415M	V	-	1	0	ARSI	149657437	0.574000	0.26684	0.939000	0.37840	0.661000	0.39034	1.281000	0.33214	2.377000	0.81083	0.561000	0.74099	GTG		0.637	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		T	149677244	C	T	149677244	3	4	260	1	0	0	0	0	1	0	0	0	994	536	19	1	470	1	ARSI	5	149677244	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	2127929	149677244	31238016	55	14377											
DOCK2	1794	genome.wustl.edu	37	5	169454921	169454921	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:169454921G>A	ENST00000256935.8	+	34	3516	c.3436G>A	c.(3436-3438)Gac>Aac	p.D1146N	MIR378E_ENST00000581976.1_RNA|DOCK2_ENST00000520908.1_Missense_Mutation_p.D638N|DOCK2_ENST00000540750.1_Missense_Mutation_p.D207N|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1146	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCGAGGCGACGAGCAGTA	0.512																																																0			5											117	106	109					5																	169454921		2203	4300	6503	169387499	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3436G>A	5.37:g.169454921G>A	ENSP00000256935:p.Asp1146Asn		169387499	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378441	0.95945	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.58797	0.31;0.31;0.31	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	M	0.86953	2.85	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.75020	0.982;0.985	T	0.81974	-0.0687	10	0.49607	T	0.09	.	18.8352	0.92159	0.0:0.0:1.0:0.0	.	638;1146	E7ERW7;Q92608	.;DOCK2_HUMAN	N	1146;638;207	ENSP00000256935:D1146N;ENSP00000429283:D638N;ENSP00000438827:D207N	ENSP00000256935:D1146N	D	+	1	0	DOCK2	169387499	1.000000	0.71417	0.194000	0.23346	0.656000	0.38851	9.438000	0.97539	2.455000	0.83008	0.555000	0.69702	GAC		0.512	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169454921	G	A	169454921	3	1	260	1	0	0	0	0	1	0	0	0	4687	1058	37	1	3570	1	DOCK2	5	169454921	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	19777677	169454921	11460339	56	14378											
DOCK2	1794	genome.wustl.edu	37	5	169494658	169494658	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr5:169494658G>T	ENST00000256935.8	+	45	4692	c.4612G>T	c.(4612-4614)Gct>Tct	p.A1538S	DOCK2_ENST00000520908.1_Missense_Mutation_p.A1030S|DOCK2_ENST00000540750.1_Missense_Mutation_p.A599S|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1538	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGGACCCTGCTGTCATGGG	0.552																																																0			5											151	142	145					5																	169494658		2203	4300	6503	169427236	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4612G>T	5.37:g.169494658G>T	ENSP00000256935:p.Ala1538Ser		169427236	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170110	0.78452	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.16743	2.32;2.32;2.32	4.83	4.83	0.62350	Cytochrome c domain (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.81614	2.55	0.80722	D	1	D;P;D	0.76494	0.999;0.948;0.997	D;D;D	0.85130	0.997;0.979;0.984	T	0.39165	-0.9627	10	0.34782	T	0.22	.	18.2848	0.90111	0.0:0.0:1.0:0.0	.	1030;94;1538	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	S	1538;1030;599	ENSP00000256935:A1538S;ENSP00000429283:A1030S;ENSP00000438827:A599S	ENSP00000256935:A1538S	A	+	1	0	DOCK2	169427236	1.000000	0.71417	0.949000	0.38748	0.304000	0.27724	9.809000	0.99208	2.387000	0.81309	0.563000	0.77884	GCT		0.552	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169494658	G	T	169494658	3	4	260	1	0	0	0	0	1	0	0	0	4687	1319	46	3	4790	3	DOCK2	5	169494658	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	39737	169494658	11420602	57	14379											
GABBR1	2550	genome.wustl.edu	37	6	29578771	29578771	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr6:29578771G>C	ENST00000377034.4	-	14	1973	c.1638C>G	c.(1636-1638)agC>agG	p.S546R	GABBR1_ENST00000377016.4_Missense_Mutation_p.S484R|GABBR1_ENST00000376977.3_Missense_Mutation_p.S546R|GABBR1_ENST00000355973.3_Missense_Mutation_p.S429R|GABBR1_ENST00000377012.4_Missense_Mutation_p.S429R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	546					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCTTCTTGTAGCTGCCACCTG	0.453																																																0			6											148	121	130					6																	29578771		1510	2709	4219	29686750	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1638C>G	6.37:g.29578771G>C	ENSP00000366233:p.Ser546Arg		29686750	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895659	0.17686	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.07	3.16	0.36331	.	0.186210	0.56097	D	0.000035	T	0.41465	0.1160	L	0.35644	1.08	0.42485	D	0.992876	B;B;B;B	0.27853	0.004;0.191;0.059;0.138	B;B;B;B	0.31614	0.015;0.133;0.041;0.02	T	0.30679	-0.9970	10	0.14656	T	0.56	-16.6172	5.0898	0.14702	0.1838:0.0:0.6484:0.1678	.	546;484;546;429	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	R	429;546;484;429;546	ENSP00000348248:S429R;ENSP00000366176:S546R;ENSP00000366215:S484R;ENSP00000366211:S429R;ENSP00000366233:S546R	ENSP00000348248:S429R	S	-	3	2	GABBR1	29686750	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.771000	0.26633	1.256000	0.44068	0.563000	0.77884	AGC		0.453	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			C	29578771	G	C	29578771	3	2	260	1	0	0	0	0	1	0	0	0	6155	962	34	3	1287	3	GABBR1	6	29578771	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09		29578771	141536296	58	14380											
FAM26F	441168	genome.wustl.edu	37	6	116784809	116784809	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr6:116784809G>T	ENST00000368605.1	+	3	984	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	FAM26F_ENST00000368606.3_Missense_Mutation_p.V125L|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	297					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		AGGAGATACGGTGATTCCTGT	0.373																																																0			6											168	180	176					6																	116784809		2203	4300	6503	116891502	SO:0001583	missense	441168			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.889G>T	6.37:g.116784809G>T	ENSP00000357594:p.Val297Leu		116891502	B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	.	.	.	.	.	.	.	.	.	.	G	4.976	0.181211	0.09495	.	.	ENSG00000188820	ENST00000368606;ENST00000368605;ENST00000368604	T;T;T	0.30981	1.53;2.55;1.51	4.79	0.864	0.19068	.	1.512470	0.03667	N	0.243446	T	0.11580	0.0282	L	0.59436	1.845	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.19289	-1.0310	10	0.38643	T	0.18	-9.2987	3.815	0.08812	0.3119:0.0:0.3957:0.2924	.	297	Q5R3K3	FA26F_HUMAN	L	125;297;140	ENSP00000357595:V125L;ENSP00000357594:V297L;ENSP00000357593:V140L	ENSP00000357593:V140L	V	+	1	0	FAM26F	116891502	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.805000	0.04530	-0.035000	0.13691	-0.150000	0.13652	GTG		0.373	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919		T	116784809	G	T	116784809	3	4	260	1	0	0	0	0	1	0	0	0	5551	1261	44	3	895	3	FAM26F	6	116784809	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	87206038	116784809	54330258	59	14381											
C6orf211	79624	genome.wustl.edu	37	6	151775692	151775692	+	Silent	SNP	A	A	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr6:151775692A>C	ENST00000367294.3	+	2	310	c.51A>C	c.(49-51)gcA>gcC	p.A17A	C6orf211_ENST00000545879.1_Intron|RMND1_ENST00000367303.4_5'Flank|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	17										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GATCATTTGCATATCTTACAA	0.318																																																0			6											98	97	97					6																	151775692		2203	4289	6492	151817385	SO:0001819	synonymous_variant	79624			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.51A>C	6.37:g.151775692A>C			151817385	Q96FC6|Q9UFY5	Silent	SNP	ENST00000367294.3	37	CCDS5233.1																																																																																				0.318	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		C	151775692	A	C	151775692	2	2	260	1	0	0	0	0	0	0	0	1	2354	204	8	5		5	C6orf211	6	151775692	Silent	SNP	A	TCGA-24-1844-01A-01W-0639-09	34990883	151775692	19339375	60	14382											
LPA	4018	genome.wustl.edu	37	6	161007564	161007564	+	Missense_Mutation	SNP	G	G	A	rs201200716		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr6:161007564G>A	ENST00000316300.5	-	25	4090	c.4046C>T	c.(4045-4047)aCg>aTg	p.T1349M	LPA_ENST00000447678.1_Missense_Mutation_p.T1349M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3857	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGACATTGCGTCAGGTTGCA	0.522																																																0			6											134	135	135					6																	161007564		2168	4284	6452	160927554	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4046C>T	6.37:g.161007564G>A	ENSP00000321334:p.Thr1349Met		160927554	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	13.44	2.236416	0.39498	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62941	-0.01;-0.01	2.39	-4.03	0.04021	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.50463	0.1617	L	0.46670	1.46	0.09310	N	0.999999	D	0.71674	0.998	D	0.79784	0.993	T	0.46020	-0.9221	9	0.54805	T	0.06	.	5.0802	0.14653	0.0:0.1932:0.2003:0.6065	.	3857	P08519	APOA_HUMAN	M	1349	ENSP00000321334:T1349M;ENSP00000395608:T1349M	ENSP00000321334:T1349M	T	-	2	0	LPA	160927554	0.002000	0.14202	0.316000	0.25252	0.413000	0.31143	-0.365000	0.07573	-1.024000	0.03338	0.436000	0.28706	ACG		0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		A	161007564	G	A	161007564	3	1	260	1	0	0	0	0	1	0	0	0	8903	1145	40	1	2136	1	LPA	6	161007564	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	9231872	161007564	10107503	61	14383											
CCDC129	223075	genome.wustl.edu	37	7	31682913	31682913	+	Silent	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr7:31682913C>T	ENST00000407970.3	+	11	1967	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	CCDC129_ENST00000451887.2_Silent_p.I669I|CCDC129_ENST00000409210.1_Silent_p.I551I|CCDC129_ENST00000319386.3_Silent_p.I495I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	643										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CACAGTGTATCCCCAAGCACA	0.498																																																0			7											131	113	119					7																	31682913		2203	4300	6503	31649438	SO:0001819	synonymous_variant	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1929C>T	7.37:g.31682913C>T			31649438	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	CCDS5435.2																																																																																				0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		T	31682913	C	T	31682913	2	4	260	1	0	0	0	0	0	0	0	1	2764	845	30	2		2	CCDC129	7	31682913	Silent	SNP	C	TCGA-24-1844-01A-01W-0639-09		31682913	127455750	62	14384											
TNS3	64759	genome.wustl.edu	37	7	47408795	47408795	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr7:47408795G>T	ENST00000398879.1	-	17	1814	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	TNS3_ENST00000355730.3_Missense_Mutation_p.P243H|TNS3_ENST00000311160.9_Missense_Mutation_p.P483H			Q68CZ2	TENS3_HUMAN	tensin 3	483					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GTCGTGGTGGGGCATCTCGTC	0.622																																																0			7											59	64	62					7																	47408795		2151	4248	6399	47375320	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1448C>A	7.37:g.47408795G>T	ENSP00000381854:p.Pro483His		47375320	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028270	0.75390	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718	D;D;D;D	0.95171	-3.48;-3.48;-1.89;-3.63	5.45	5.45	0.79879	.	0.465144	0.23181	N	0.051010	D	0.96803	0.8956	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.97204	0.9866	10	0.87932	D	0	-33.8915	16.7473	0.85476	0.0:0.0:1.0:0.0	.	483	Q68CZ2	TENS3_HUMAN	H	483;593;483;243;586	ENSP00000312143:P483H;ENSP00000381854:P483H;ENSP00000347968:P243H;ENSP00000414358:P586H	ENSP00000312143:P483H	P	-	2	0	TNS3	47375320	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	6.247000	0.72411	2.544000	0.85801	0.655000	0.94253	CCC		0.622	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		T	47408795	G	T	47408795	3	4	260	1	0	0	0	0	1	0	0	0	16344	1232	43	3	2949	3	TNS3	7	47408795	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	15725882	47408795	111729868	63	14385											
ZNF679	168417	genome.wustl.edu	37	7	63720617	63720617	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr7:63720617G>T	ENST00000421025.1	+	3	327	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.D20Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GACATTCAGAGATGTAGTCAT	0.388																																																0			7											58	51	53					7																	63720617		692	1591	2283	63358052	SO:0001583	missense	168417			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.58G>T	7.37:g.63720617G>T	ENSP00000416809:p.Asp20Tyr		63358052		Missense_Mutation	SNP	ENST00000421025.1	37	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	g	10.71	1.426753	0.25726	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.12039	2.72;2.72	0.195	0.195	0.15151	Krueppel-associated box (4);	.	.	.	.	T	0.54319	0.1851	H	0.99929	4.97	0.25993	N	0.982216	D	0.89917	1.0	D	0.91635	0.999	T	0.44937	-0.9295	9	0.87932	D	0	.	6.2336	0.20750	3.0E-4:0.0:0.9997:0.0	.	20	Q8IYX0	ZN679_HUMAN	Y	20	ENSP00000416809:D20Y;ENSP00000255746:D20Y	ENSP00000255746:D20Y	D	+	1	0	ZNF679	63358052	0.776000	0.28616	0.086000	0.20670	0.086000	0.17979	1.751000	0.38339	0.300000	0.22699	0.306000	0.20318	GAT		0.388	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		T	63720617	G	T	63720617	3	4	260	1	0	0	0	0	1	0	0	0	18086	942	33	3	64	3	ZNF679	7	63720617	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	16311822	63720617	95418046	64	14386											
HIP1	3092	genome.wustl.edu	37	7	75174028	75174028	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr7:75174028C>A	ENST00000336926.6	-	27	2757	c.2731G>T	c.(2731-2733)Gct>Tct	p.A911S	HIP1_ENST00000434438.2_Missense_Mutation_p.A860S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	911	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.|Important for actin binding. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGCTAGCAGCAATTTCATGA	0.517			T	PDGFRB	CMML																																		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0			7											113	103	106					7																	75174028		2203	4300	6503	75011964	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2731G>T	7.37:g.75174028C>A	ENSP00000336747:p.Ala911Ser		75011964	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439467	0.83885	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.47528	0.84;0.84	5.6	4.72	0.59763	I/LWEQ (4);	0.048853	0.85682	D	0.000000	T	0.61324	0.2338	L	0.58354	1.805	0.58432	D	0.999998	D;D	0.55605	0.972;0.966	P;D	0.64042	0.896;0.921	T	0.61431	-0.7064	10	0.45353	T	0.12	-10.9107	12.7825	0.57485	0.0:0.9209:0.0:0.0791	.	860;911	E7ES17;O00291	.;HIP1_HUMAN	S	911;860	ENSP00000336747:A911S;ENSP00000410300:A860S	ENSP00000336747:A911S	A	-	1	0	HIP1	75011964	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.781000	0.68964	1.372000	0.46190	0.655000	0.94253	GCT		0.517	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		A	75174028	C	A	75174028	3	1	260	1	0	0	0	0	1	0	0	0	7114	710	25	3	402	3	HIP1	7	75174028	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	11453411	75174028	83964635	65	14387											
PPP1R3A	5506	genome.wustl.edu	37	7	113517849	113517849	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr7:113517849A>G	ENST00000284601.3	-	4	3366	c.3298T>C	c.(3298-3300)Ttc>Ctc	p.F1100L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1100					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAACGTAGAATGTCAAGCCA	0.333																																																0			7											88	89	89					7																	113517849		2203	4299	6502	113305085	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3298T>C	7.37:g.113517849A>G	ENSP00000284601:p.Phe1100Leu		113305085	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.590094	0.28357	.	.	ENSG00000154415	ENST00000284601	T	0.13196	2.61	5.85	4.66	0.58398	.	0.211367	0.34314	N	0.004071	T	0.10208	0.0250	L	0.58669	1.825	0.29409	N	0.861352	P	0.37636	0.603	B	0.32762	0.152	T	0.08638	-1.0712	10	0.14656	T	0.56	-3.6175	4.1811	0.10376	0.6434:0.1865:0.1701:0.0	.	1100	Q16821	PPR3A_HUMAN	L	1100	ENSP00000284601:F1100L	ENSP00000284601:F1100L	F	-	1	0	PPP1R3A	113305085	0.996000	0.38824	0.998000	0.56505	0.853000	0.48598	1.878000	0.39608	2.228000	0.72767	0.528000	0.53228	TTC		0.333	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		G	113517849	A	G	113517849	3	3	260	1	0	0	0	0	1	0	0	0	12374	101	4	4	74	4	PPP1R3A	7	113517849	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	38343821	113517849	45620814	66	14388											
SLC13A1	6561	genome.wustl.edu	37	7	122763290	122763290	+	Splice_Site	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr7:122763290C>T	ENST00000194130.2	-	12	1280		c.e12-1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TCAAAAGCAACTGCAAAACAA	0.383																																																0			7											83	84	84					7																	122763290		2203	4300	6503	122550526	SO:0001630	splice_region_variant	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1241-1G>A	7.37:g.122763290C>T			122550526	Q9H5Z0	Splice_Site	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456649	0.63401	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3725	0.87382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC13A1	122550526	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.552000	0.60747	2.787000	0.95880	0.585000	0.79938	.		0.383	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	Intron	T	122763290	C	T	122763290	5	4	260	1	0	0	0	0	0	0	1	0	14394	579	20	2	563	2	SLC13A1	7	122763290	Splice_Site	SNP	C	TCGA-24-1844-01A-01W-0639-09	9245441	122763290	36375373	67	14389											
FSCN3	29999	genome.wustl.edu	37	7	127235907	127235907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr7:127235907G>T	ENST00000265825.5	+	2	910	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	FSCN3_ENST00000420086.2_Nonsense_Mutation_p.E97*|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	231						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GTGTGATGGAGAAGGAGGCAT	0.562																																																0			7											133	104	114					7																	127235907		2203	4300	6503	127023143	SO:0001587	stop_gained	29999				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.691G>T	7.37:g.127235907G>T	ENSP00000265825:p.Glu231*		127023143	A4D0Z2|A6NLL7|B2RA62|B4DU68	Nonsense_Mutation	SNP	ENST00000265825.5	37	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	G	37	6.156494	0.97334	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	.	.	.	5.44	4.51	0.55191	.	0.090787	0.47852	D	0.000217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-28.8501	12.7475	0.57289	0.0:0.1656:0.8344:0.0	.	.	.	.	X	231;97	.	ENSP00000265825:E231X	E	+	1	0	FSCN3	127023143	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.452000	0.44961	2.708000	0.92522	0.650000	0.86243	GAA		0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		T	127235907	G	T	127235907	4	4	260	1	0	0	0	0	0	1	0	0	6069	943	33	3	697	3	FSCN3	7	127235907	Nonsense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	4472617	127235907	31902756	68	14390											
CPA2	1358	genome.wustl.edu	37	7	129919397	129919397	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr7:129919397G>T	ENST00000222481.4	+	9	937	c.882G>T	c.(880-882)aaG>aaT	p.K294N		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	294					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ACTTCATCAAGAGTCATGGAA	0.488																																																0			7											119	108	112					7																	129919397		2203	4300	6503	129706633	SO:0001583	missense	1358			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.882G>T	7.37:g.129919397G>T	ENSP00000222481:p.Lys294Asn		129706633	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702753	0.30232	.	.	ENSG00000158516	ENST00000222481	T	0.10382	2.88	5.97	5.1	0.69264	Peptidase M14, carboxypeptidase A (2);	0.249324	0.39341	N	0.001382	T	0.13756	0.0333	L	0.61036	1.89	0.54753	D	0.999988	B	0.02656	0.0	B	0.14578	0.011	T	0.02150	-1.1205	10	0.66056	D	0.02	.	10.4247	0.44371	0.1468:0.0:0.8532:0.0	.	294	P48052	CBPA2_HUMAN	N	294	ENSP00000222481:K294N	ENSP00000222481:K294N	K	+	3	2	CPA2	129706633	0.638000	0.27225	0.999000	0.59377	0.187000	0.23431	2.036000	0.41165	1.545000	0.49373	-0.136000	0.14681	AAG		0.488	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		T	129919397	G	T	129919397	3	4	260	1	0	0	0	0	1	0	0	0	3790	933	33	3	916	3	CPA2	7	129919397	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	2683490	129919397	29219266	69	14391											
NAT2	10	genome.wustl.edu	37	8	18257940	18257940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr8:18257940C>T	ENST00000286479.3	+	2	534	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	NAT2_ENST00000520116.1_Nonsense_Mutation_p.Q13*	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	143					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	TGGGAAGGATCAGCCTCAGGT	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							0			8											62	65	64					8																	18257940		2203	4300	6503	18302220	SO:0001587	stop_gained	10	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.427C>T	8.37:g.18257940C>T	ENSP00000286479:p.Gln143*		18302220	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Nonsense_Mutation	SNP	ENST00000286479.3	37	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665551	0.47677	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	.	.	.	2.95	2.95	0.34219	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.6078	0.39643	0.0:1.0:0.0:0.0	.	.	.	.	X	143;13	.	ENSP00000286479:Q143X	Q	+	1	0	NAT2	18302220	1.000000	0.71417	0.997000	0.53966	0.264000	0.26372	4.621000	0.61233	1.947000	0.56498	0.436000	0.28706	CAG		0.473	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		T	18257940	C	T	18257940	4	4	260	1	0	0	0	0	0	1	0	0	10177	827	29	2	429	2	NAT2	8	18257940	Nonsense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09		18257940	128106082	70	14392											
SNX31	169166	genome.wustl.edu	37	8	101601147	101601147	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr8:101601147A>T	ENST00000311812.2	-	11	1189	c.1039T>A	c.(1039-1041)Ttt>Att	p.F347I	SNX31_ENST00000428383.2_Missense_Mutation_p.F248I|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	347					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTGTATTGAAATCTGAGCTCT	0.418																																																0			8											117	109	112					8																	101601147		2203	4300	6503	101670323	SO:0001583	missense	169166				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1039T>A	8.37:g.101601147A>T	ENSP00000312368:p.Phe347Ile		101670323	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674485	0.67928	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.54675	1.15;0.56	5.79	4.63	0.57726	.	0.078383	0.53938	D	0.000052	T	0.54902	0.1887	M	0.72353	2.195	0.52501	D	0.999959	D;P	0.56968	0.978;0.505	P;B	0.44477	0.451;0.189	T	0.61048	-0.7141	10	0.87932	D	0	-8.3511	12.2528	0.54608	0.8575:0.1425:0.0:0.0	.	248;347	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	347;248	ENSP00000312368:F347I;ENSP00000405024:F248I	ENSP00000312368:F347I	F	-	1	0	SNX31	101670323	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.192000	0.50989	0.996000	0.38943	0.533000	0.62120	TTT		0.418	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		T	101601147	A	T	101601147	3	4	260	1	0	0	0	0	1	0	0	0	14904	101	4	5	299	5	SNX31	8	101601147	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	83343207	101601147	44762875	71	14393											
KIAA0020	9933	genome.wustl.edu	37	9	2828779	2828779	+	Splice_Site	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr9:2828779C>A	ENST00000397885.2	-	9	1059		c.e9-1		KIAA0020_ENST00000469168.1_Splice_Site	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GATCTGCTGACTGCAACAAAA	0.318																																																0			9											108	101	103					9																	2828779		2201	4300	6501	2818779	SO:0001630	splice_region_variant	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.853-1G>T	9.37:g.2828779C>A			2818779	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Splice_Site	SNP	ENST00000397885.2	37	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571060	0.45798	.	.	ENSG00000080608	ENST00000397885	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0020	2818779	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	6.942000	0.75928	2.857000	0.98124	0.650000	0.86243	.		0.318	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878	Intron	A	2828779	C	A	2828779	5	1	260	1	0	0	0	0	0	0	1	0	8152	579	20	3	1134	3	KIAA0020	9	2828779	Splice_Site	SNP	C	TCGA-24-1844-01A-01W-0639-09		2828779	138384652	72	14394											
FAM75A6	389730	genome.wustl.edu	37	9	43627922	43627926	+	Frame_Shift_Del	DEL	AGACA	AGACA	-			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	AGACA	AGACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr9:43627922_43627926delAGACA	ENST00000332857.6	-	4	789_793	c.761_765delTGTCT	c.(760-765)ttgtctfs	p.LS254fs	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	254					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTCATGTGGAGACAAGCTTTGAGG	0.566																																																0			9																																								43567922	SO:0001589	frameshift_variant	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.761_765delTGTCT	9.37:g.43627922_43627926delAGACA	ENSP00000329825:p.Leu254fs		43567918		Frame_Shift_Del	DEL	ENST00000332857.6	37	CCDS47973.1																																																																																				0.566	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		-	43627926	AGACA	-	43627922	7	5	260	1	0	1	0	1	0	0	0	0	5622	291	11	0	3270	0	FAM75A6	9	43627922	Frame_Shift_Del	DEL	AGACA	TCGA-24-1844-01A-01W-0639-09	40799143	43627922	97585509	73	14395											
SLC31A1	1317	genome.wustl.edu	37	9	116021012	116021012	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr9:116021012A>G	ENST00000374212.4	+	4	393	c.241A>G	c.(241-243)Atg>Gtg	p.M81V	SLC31A1_ENST00000374210.6_Missense_Mutation_p.M81V|CDC26_ENST00000490408.1_Intron	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	81					cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTTACTAGCAATGTTCTATGA	0.443																																					Ovarian(135;1049 1799 4519 17564 28677)											0			9											151	145	147					9																	116021012		2203	4300	6503	115060833	SO:0001583	missense	1317			U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"Solute carriers"	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519	ENST00000374212.4:c.241A>G	9.37:g.116021012A>G	ENSP00000363329:p.Met81Val		115060833	A8K8Z6|Q53GR5|Q5T1M4	Missense_Mutation	SNP	ENST00000374212.4	37	CCDS6789.1	.	.	.	.	.	.	.	.	.	.	A	3.603	-0.081204	0.07141	.	.	ENSG00000136868	ENST00000374212;ENST00000374210	T;T	0.74209	-0.82;-0.82	6.03	4.9	0.64082	.	0.216760	0.56097	N	0.000022	T	0.38558	0.1045	N	0.00599	-1.345	0.80722	D	1	B;B	0.14438	0.01;0.0	B;B	0.11329	0.006;0.001	T	0.19976	-1.0289	10	0.19590	T	0.45	-0.2501	7.4437	0.27198	0.7854:0.143:0.0716:0.0	.	81;81	Q5T1M3;O15431	.;COPT1_HUMAN	V	81	ENSP00000363329:M81V;ENSP00000363327:M81V	ENSP00000363327:M81V	M	+	1	0	SLC31A1	115060833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.054000	0.49908	1.104000	0.41587	0.533000	0.62120	ATG		0.443	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		G	116021012	A	G	116021012	3	3	260	1	0	0	0	0	1	0	0	0	14566	101	4	4	251	4	SLC31A1	9	116021012	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	72393090	116021012	25192419	74	14396											
AKNA	80709	genome.wustl.edu	37	9	117103866	117103866	+	Silent	SNP	T	T	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr9:117103866T>G	ENST00000307564.4	-	21	4175	c.4014A>C	c.(4012-4014)ccA>ccC	p.P1338P	AKNA_ENST00000374088.3_Silent_p.P1338P|AKNA_ENST00000374075.5_Silent_p.P1257P|AKNA_ENST00000223791.3_Silent_p.P798P|AKNA_ENST00000374079.4_Silent_p.P283P|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1338					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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 positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGGCAAAGGCTGGAGGGGCTG	0.612																																																0			9											52	59	57					9																	117103866		2203	4300	6503	116143687	SO:0001819	synonymous_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4014A>C	9.37:g.117103866T>G			116143687	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	9.566	1.119629	0.20877	.	.	ENSG00000106948	ENST00000320310	.	.	.	5.5	-10.3	0.00346	.	.	.	.	.	T	0.22936	0.0554	.	.	.	0.19945	N	0.999941	.	.	.	.	.	.	T	0.13791	-1.0496	4	.	.	.	-10.6908	7.0856	0.25255	0.0962:0.1053:0.0979:0.7006	.	.	.	.	P	349	.	.	Q	-	2	0	AKNA	116143687	0.000000	0.05858	0.001000	0.08648	0.838000	0.47535	-3.045000	0.00631	-2.765000	0.00368	-0.119000	0.15052	CAG		0.612	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		G	117103866	T	G	117103866	2	3	260	1	0	0	0	0	0	0	0	1	463	1567	55	5		5	AKNA	9	117103866	Silent	SNP	T	TCGA-24-1844-01A-01W-0639-09	1082854	117103866	24109565	75	14397											
NRBF2	29982	genome.wustl.edu	37	10	64913962	64913962	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr10:64913962G>T	ENST00000277746.6	+	4	1029	c.848G>T	c.(847-849)gGa>gTa	p.G283V	NRBF2_ENST00000435510.2_Missense_Mutation_p.G273V	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	283					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATTCTGAAAGGATTTATGAAT	0.393																																																0			10											29	33	32					10																	64913962		1922	3635	5557	64583968	SO:0001583	missense	29982			D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"comodulator of PPAR and RXR 1", "comodulator of PPAR and RXR 2"					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.848G>T	10.37:g.64913962G>T	ENSP00000277746:p.Gly283Val		64583968	A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Missense_Mutation	SNP	ENST00000277746.6	37	CCDS7268.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890139	0.52014	.	.	ENSG00000148572	ENST00000277746;ENST00000395241;ENST00000435510	.	.	.	5.95	5.05	0.67936	.	0.093389	0.85682	D	0.000000	T	0.75591	0.3870	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.67900	0.954;0.936	T	0.78518	-0.2173	9	0.72032	D	0.01	-22.3963	15.0667	0.72002	0.0678:0.0:0.9322:0.0	.	273;283	B4DWS0;Q96F24	.;NRBF2_HUMAN	V	283;233;273	.	ENSP00000277746:G283V	G	+	2	0	NRBF2	64583968	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	4.817000	0.62650	1.534000	0.49203	0.563000	0.77884	GGA		0.393	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048247.1	NM_030759		T	64913962	G	T	64913962	3	4	260	1	0	0	0	0	1	0	0	0	10641	1174	41	3	862	3	NRBF2	10	64913962	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09		64913962	70620785	76	14398											
LRRC20	55222	genome.wustl.edu	37	10	72083641	72083641	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr10:72083641G>C	ENST00000355790.4	-	4	855	c.378C>G	c.(376-378)aaC>aaG	p.N126K	LRRC20_ENST00000395010.1_Intron|LRRC20_ENST00000358141.2_Missense_Mutation_p.N76K|LRRC20_ENST00000373224.1_Missense_Mutation_p.N126K|LRRC20_ENST00000395011.1_Missense_Mutation_p.N76K	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	126										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TCTCCTCCAGGTTGATGGTCT	0.642																																																0			10											70	65	67					10																	72083641		2203	4300	6503	71753647	SO:0001583	missense	55222			BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.378C>G	10.37:g.72083641G>C	ENSP00000348043:p.Asn126Lys		71753647	Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	ENST00000355790.4	37	CCDS7302.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030744	0.35797	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395011;ENST00000358141;ENST00000446961	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.37	2.2	0.27929	.	0.091715	0.64402	D	0.000001	T	0.52008	0.1708	L	0.56280	1.765	0.80722	D	1	B;B	0.28760	0.221;0.089	B;B	0.34931	0.121;0.192	T	0.38265	-0.9669	10	0.28530	T	0.3	-18.7842	10.8437	0.46730	0.2031:0.0:0.7969:0.0	.	76;126	Q8TCA0-2;Q8TCA0	.;LRC20_HUMAN	K	126;126;76;76;126	ENSP00000362321:N126K;ENSP00000348043:N126K;ENSP00000378458:N76K;ENSP00000350860:N76K;ENSP00000413745:N126K	ENSP00000348043:N126K	N	-	3	2	LRRC20	71753647	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	1.427000	0.34881	0.122000	0.18314	0.563000	0.77884	AAC		0.642	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048510.1	NM_018239		C	72083641	G	C	72083641	3	2	260	1	0	0	0	0	1	0	0	0	8977	1252	44	3	184	3	LRRC20	10	72083641	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	7169679	72083641	63451106	77	14399											
AGAP11	119385	genome.wustl.edu	37	10	88769594	88769594	+	RNA	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr10:88769594C>T	ENST00000444431.1	+	0	4194				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GACCTACGCCCGGCAGGCCTC	0.612																																																0			10											2	3	3					10																	88769594		947	2294	3241	88759574			119385					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769594C>T			88759574	B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37																																																																																					0.612	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		T	88769594	C	T	88769594	1	4	260	0	1	0	0	0	0	0	0	0	367	643	23	1		1	AGAP11	10	88769594	RNA	SNP	C	TCGA-24-1844-01A-01W-0639-09	16685953	88769594	46765153	78	14400											
ATRNL1	26033	genome.wustl.edu	37	10	117154172	117154172	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr10:117154172G>C	ENST00000355044.3	+	20	3305	c.3179G>C	c.(3178-3180)tGt>tCt	p.C1060S	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.C111S	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1060	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTTACAGCTTGTACATGCAGT	0.333																																																0			10											138	125	129					10																	117154172		2203	4300	6503	117144162	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3179G>C	10.37:g.117154172G>C	ENSP00000347152:p.Cys1060Ser		117144162	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.147241|4.147241	0.77888|0.77888	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.68903|.	-0.36;1.2|.	5.61|5.61	5.61|5.61	0.85477|0.85477	EGF-like, laminin (2);|.	0.061993|.	0.85682|.	D|.	0.000000|.	D|D	0.86531|0.86531	0.5955|0.5955	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.993;0.993|.	D;D|.	0.72338|.	0.977;0.977|.	D|D	0.89807|0.89807	0.3979|0.3979	10|5	0.87932|.	D|.	0|.	-18.9996|-18.9996	15.1377|15.1377	0.72583|0.72583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	111;1060|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	S|F	1060;111|143	ENSP00000347152:C1060S;ENSP00000409624:C111S|.	ENSP00000347152:C1060S|.	C|L	+|+	2|3	0|2	ATRNL1|ATRNL1	117144162|117144162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.632000|7.632000	0.83247|0.83247	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	TGT|TTG		0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		C	117154172	G	C	117154172	3	2	260	1	0	0	0	0	1	0	0	0	1207	1377	48	3	3257	3	ATRNL1	10	117154172	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	28384578	117154172	18380575	79	14401											
DMBT1	1755	genome.wustl.edu	37	10	124402751	124402751	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr10:124402751G>C	ENST00000338354.3	+	53	7185	c.7079G>C	c.(7078-7080)tGt>tCt	p.C2360S	DMBT1_ENST00000368955.3_Missense_Mutation_p.C2350S|DMBT1_ENST00000368956.2_Missense_Mutation_p.C1732S|DMBT1_ENST00000330163.4_Missense_Mutation_p.C1732S|DMBT1_ENST00000359586.6_Missense_Mutation_p.C1080S|DMBT1_ENST00000344338.3_Missense_Mutation_p.C2350S|DMBT1_ENST00000368909.3_Missense_Mutation_p.C2360S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2360	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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)			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)				TACCTGCGTTGTAAAATGGTG	0.587																																					Ovarian(182;93 2026 18125 22222 38972)											0			10											139	142	141					10																	124402751		2076	4213	6289	124392741	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.7079G>C	10.37:g.124402751G>C	ENSP00000342210:p.Cys2360Ser		124392741	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	G	17.09	3.300183	0.60195	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.28	5.28	0.74379	Zona pellucida sperm-binding protein (3);	0.526148	0.15782	U	0.244880	D	0.97601	0.9214	M	0.91663	3.23	0.58432	D	0.999995	D;P;D;D;D;D;D	0.89917	1.0;0.844;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D	0.91635	0.999;0.308;0.999;0.999;0.999;0.999;0.999	D	0.98285	1.0510	10	0.87932	D	0	.	18.9486	0.92632	0.0:0.0:1.0:0.0	.	1080;2340;1609;2489;1732;2350;2360	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	S	2360;2489;2360;2360;2360;2359;1732;2350;1732;1732;2360;2350;1732;506;1080	ENSP00000342210:C2360S;ENSP00000343175:C2350S;ENSP00000327747:C1732S;ENSP00000357905:C2360S;ENSP00000357951:C2350S;ENSP00000357952:C1732S;ENSP00000352593:C1080S	ENSP00000331522:C1732S	C	+	2	0	DMBT1	124392741	1.000000	0.71417	0.218000	0.23776	0.181000	0.23173	5.983000	0.70540	2.479000	0.83701	0.655000	0.94253	TGT		0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		C	124402751	G	C	124402751	3	2	260	1	0	0	0	0	1	0	0	0	4577	1377	48	3	7289	3	DMBT1	10	124402751	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	7248579	124402751	11131996	80	14402											
PLEKHA7	144100	genome.wustl.edu	37	11	16811338	16811344	+	Frame_Shift_Del	DEL	CTGCTTT	CTGCTTT	-			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	CTGCTTT	CTGCTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr11:16811338_16811344delCTGCTTT	ENST00000355661.3	-	22	3144_3150	c.3134_3140delAAAGCAG	c.(3133-3141)gaaagcagcfs	p.ESS1045fs	PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.ESS1045fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.ESS1046fs|PLEKHA7_ENST00000532079.1_Frame_Shift_Del_p.KAA52fs|PLEKHA7_ENST00000332954.4_5'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1045					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGTCGCCTTGCTGCTTTCGGCATTGAG	0.604																																																0			11																																								16767920	SO:0001589	frameshift_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.3134_3140delAAAGCAG	11.37:g.16811338_16811344delCTGCTTT	ENSP00000347883:p.Glu1045fs		16767914	B4DK33|B4DWC3|Q86VZ7	Frame_Shift_Del	DEL	ENST00000355661.3	37	CCDS31434.1																																																																																				0.604	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		-	16811344	CTGCTTT	-	16811338	7	5	260	1	0	1	0	1	0	0	0	0	12061	797	28	0	233	0	PLEKHA7	11	16811338	Frame_Shift_Del	DEL	CTGCTTT	TCGA-24-1844-01A-01W-0639-09		16811338	118195178	81	14403											
PDE2A	5138	genome.wustl.edu	37	11	72288541	72288541	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr11:72288541G>A	ENST00000334456.5	-	31	2958	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	PDE2A_ENST00000444035.2_Missense_Mutation_p.R896C|PDE2A_ENST00000540345.1_Missense_Mutation_p.R896C|PDE2A_ENST00000544570.1_Missense_Mutation_p.R898C|PDE2A_ENST00000418754.2_Missense_Mutation_p.R790C|PDE2A_ENST00000376450.3_Missense_Mutation_p.R649C	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	905					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGGAGGCCGCGGATGGTGAAC	0.607																																																0			11											132	103	113					11																	72288541		2200	4293	6493	71966189	SO:0001583	missense	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2713C>T	11.37:g.72288541G>A	ENSP00000334910:p.Arg905Cys		71966189	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054306	0.93793	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000544570;ENST00000418754;ENST00000540345	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.47	5.47	0.80525	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.667620	0.13877	N	0.356570	T	0.81307	0.4795	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.999;0.999	P;P;D;D;P;P	0.73380	0.507;0.827;0.941;0.98;0.827;0.69	T	0.80921	-0.1166	10	0.87932	D	0	.	13.269	0.60150	0.0:0.0:0.8414:0.1586	.	790;905;896;898;905;649	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	C	905;649;896;898;790;896	ENSP00000334910:R905C;ENSP00000365633:R649C;ENSP00000411657:R896C;ENSP00000442256:R898C;ENSP00000410310:R790C;ENSP00000446399:R896C	ENSP00000334910:R905C	R	-	1	0	PDE2A	71966189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.082000	0.64450	2.723000	0.93209	0.655000	0.94253	CGC		0.607	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		A	72288541	G	A	72288541	3	1	260	1	0	0	0	0	1	0	0	0	11636	1116	39	1	116	1	PDE2A	11	72288541	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	55477203	72288541	62717975	82	14404											
C11orf54	28970	genome.wustl.edu	37	11	93486874	93486874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr11:93486874G>T	ENST00000331239.4	+	4	360	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	C11orf54_ENST00000540113.1_Nonsense_Mutation_p.E42*|C11orf54_ENST00000528099.1_Nonsense_Mutation_p.E61*|C11orf54_ENST00000528288.1_Nonsense_Mutation_p.E61*|C11orf54_ENST00000354421.3_Nonsense_Mutation_p.E61*			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	61					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGAATTGCAGAAGTTGGAGG	0.333																																																0			11											103	102	102					11																	93486874		2201	4298	6499	93126522	SO:0001587	stop_gained	28970			AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.181G>T	11.37:g.93486874G>T	ENSP00000331209:p.Glu61*		93126522	A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Nonsense_Mutation	SNP	ENST00000331239.4	37		.	.	.	.	.	.	.	.	.	.	G	43	10.104306	0.99337	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000533585;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000527003;ENST00000531650;ENST00000530279;ENST00000524485;ENST00000527363;ENST00000526335	.	.	.	5.32	4.41	0.53225	.	0.046079	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.4875	13.9249	0.63958	0.0733:0.0:0.9267:0.0	.	.	.	.	X	61;61;61;61;61;42;42;61;61;61;42;61;61	.	ENSP00000331209:E61X	E	+	1	0	C11orf54	93126522	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.836000	0.92105	1.257000	0.44085	-0.229000	0.12294	GAA		0.333	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		T	93486874	G	T	93486874	4	4	260	1	0	0	0	0	0	1	0	0	1649	943	33	3	191	3	C11orf54	11	93486874	Nonsense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	21198333	93486874	41519642	83	14405											
MMP1	4312	genome.wustl.edu	37	11	102667463	102667463	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr11:102667463T>G	ENST00000315274.6	-	4	624	c.557A>C	c.(556-558)cAa>cCa	p.Q186P	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	186	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TGGGCCTGGTTGAAAAGCATG	0.418																																																0			11											121	107	112					11																	102667463		2203	4299	6502	102172673	SO:0001583	missense	4312			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.557A>C	11.37:g.102667463T>G	ENSP00000322788:p.Gln186Pro		102172673	P08156	Missense_Mutation	SNP	ENST00000315274.6	37	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	t	1.070	-0.670319	0.03403	.	.	ENSG00000196611	ENST00000315274	T	0.20881	2.04	5.87	-1.01	0.10169	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.524063	0.18752	N	0.132144	T	0.07773	0.0195	N	0.11341	0.13	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.40572	-0.9556	10	0.02654	T	1	.	9.1393	0.36894	0.0:0.143:0.5486:0.3083	.	186	P03956	MMP1_HUMAN	P	186	ENSP00000322788:Q186P	ENSP00000322788:Q186P	Q	-	2	0	MMP1	102172673	0.000000	0.05858	0.001000	0.08648	0.870000	0.49936	-0.829000	0.04415	-0.040000	0.13580	0.533000	0.62120	CAA		0.418	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		G	102667463	T	G	102667463	3	3	260	1	0	0	0	0	1	0	0	0	9648	1812	63	5	880	5	MMP1	11	102667463	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	9180589	102667463	32339053	84	14406											
PDGFD	80310	genome.wustl.edu	37	11	103797846	103797846	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr11:103797846C>T	ENST00000393158.2	-	6	960	c.781G>A	c.(781-783)Gat>Aat	p.D261N	PDGFD_ENST00000302251.5_Missense_Mutation_p.D255N			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	261					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTGAGCCTATCCAGGTCAACT	0.438																																																0			11											139	120	126					11																	103797846		2202	4299	6501	103303056	SO:0001583	missense	80310			AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.781G>A	11.37:g.103797846C>T	ENSP00000376865:p.Asp261Asn		103303056	A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	C	8.738	0.918357	0.17982	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.25414	1.8;1.8	5.87	5.87	0.94306	Platelet-derived growth factor (PDGF) (1);	0.046072	0.85682	D	0.000000	T	0.32224	0.0822	N	0.15975	0.35	0.58432	D	0.999992	B;D	0.89917	0.402;1.0	B;D	0.87578	0.1;0.998	T	0.02437	-1.1159	10	0.02654	T	1	-30.8886	20.2084	0.98285	0.0:1.0:0.0:0.0	.	261;255	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	N	261;255	ENSP00000376865:D261N;ENSP00000302193:D255N	ENSP00000302193:D255N	D	-	1	0	PDGFD	103303056	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.674000	0.68117	2.774000	0.95407	0.650000	0.86243	GAT		0.438	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		T	103797846	C	T	103797846	3	4	260	1	0	0	0	0	1	0	0	0	11660	855	30	2	339	2	PDGFD	11	103797846	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	1130383	103797846	31208670	85	14407											
MLL	4297	genome.wustl.edu	37	11	118350953	118350953	+	Splice_Site	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr11:118350953G>C	ENST00000389506.5	+	6	3634	c.3634G>C	c.(3634-3636)Gct>Cct	p.A1212P	KMT2A_ENST00000534358.1_Splice_Site_p.A1212P|KMT2A_ENST00000354520.4_Splice_Site_p.A1212P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1212					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCAAGCTAAAGGTAGTGTTGT	0.358																																																0			11											128	112	118					11																	118350953		2200	4296	6496	117856163	SO:0001630	splice_region_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3634+1G>C	11.37:g.118350953G>C			117856163	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655205	0.67472	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313	D;T;D;D	0.82344	-1.6;0.94;-1.6;-1.58	5.81	5.81	0.92471	.	0.190744	0.46145	D	0.000307	D	0.89322	0.6682	L	0.50333	1.59	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.87775	0.2608	10	0.42905	T	0.14	.	19.7029	0.96062	0.0:0.0:1.0:0.0	.	1212;1212	E9PQG7;Q03164	.;MLL1_HUMAN	P	1212;1245;1212;1212;122	ENSP00000436786:A1212P;ENSP00000432391:A1245P;ENSP00000374157:A1212P;ENSP00000346516:A1212P	ENSP00000346516:A1212P	A	+	1	0	MLL	117856163	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.818000	0.62657	2.756000	0.94617	0.557000	0.71058	GCT		0.358	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	Missense_Mutation	C	118350953	G	C	118350953	5	2	260	1	0	0	0	0	0	0	1	0	9620	1014	35	3	3656	3	MLL	11	118350953	Splice_Site	SNP	G	TCGA-24-1844-01A-01W-0639-09	14553107	118350953	16655563	86	14408											
OR10S1	219873	genome.wustl.edu	37	11	123847860	123847860	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr11:123847860A>T	ENST00000531945.1	-	1	628	c.539T>A	c.(538-540)cTg>cAg	p.L180Q		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACAGTAGAGCAGGCGGAAGGT	0.552																																																0			11											103	89	94					11																	123847860		2202	4299	6501	123353070	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.539T>A	11.37:g.123847860A>T	ENSP00000431914:p.Leu180Gln		123353070	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604961	0.66445	.	.	ENSG00000196248	ENST00000531945	T	0.00299	8.22	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32884	U	0.005540	T	0.01124	0.0037	H	0.96080	3.765	0.32995	D	0.525417	D	0.89917	1.0	D	0.85130	0.997	T	0.05099	-1.0906	10	0.87932	D	0	-7.8981	14.4615	0.67453	1.0:0.0:0.0:0.0	.	180	Q8NGN2	O10S1_HUMAN	Q	180	ENSP00000431914:L180Q	ENSP00000431914:L180Q	L	-	2	0	OR10S1	123353070	0.519000	0.26242	0.808000	0.32385	0.870000	0.49936	3.810000	0.55613	2.082000	0.62665	0.467000	0.42956	CTG		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		T	123847860	A	T	123847860	3	4	260	1	0	0	0	0	1	0	0	0	10918	188	7	5	460	5	OR10S1	11	123847860	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	5496907	123847860	11158656	87	14409											
ARHGAP32	9743	genome.wustl.edu	37	11	128848810	128848810	+	Splice_Site	SNP	T	T	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr11:128848810T>A	ENST00000310343.9	-	18	1934	c.1935A>T	c.(1933-1935)agA>agT	p.R645S	ARHGAP32_ENST00000392657.3_Splice_Site_p.R296S|ARHGAP32_ENST00000524655.1_Splice_Site_p.R571S|ARHGAP32_ENST00000527272.1_Splice_Site_p.R296S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	645					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAGGCCTCTTTCTATGAAAGA	0.388																																																0			11											52	55	54					11																	128848810		2201	4297	6498	128354020	SO:0001630	splice_region_variant	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1935-1A>T	11.37:g.128848810T>A			128354020	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809411	0.70797	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.12879	2.64;2.68;2.69;2.68	5.98	2.85	0.33270	.	0.086238	0.85682	D	0.000000	T	0.23054	0.0557	M	0.72118	2.19	0.51767	D	0.999933	P;P	0.51057	0.64;0.941	B;P	0.49226	0.263;0.603	T	0.01259	-1.1403	10	0.66056	D	0.02	.	11.2314	0.48914	0.0:0.6918:0.0:0.3082	.	579;645	Q86T64;A7KAX9	.;RHG32_HUMAN	S	645;296;571;579;296	ENSP00000310561:R645S;ENSP00000376425:R296S;ENSP00000432468:R571S;ENSP00000432862:R296S	ENSP00000310561:R645S	R	-	3	2	ARHGAP32	128354020	1.000000	0.71417	0.995000	0.50966	0.892000	0.51952	1.095000	0.30964	0.279000	0.22186	0.482000	0.46254	AGA		0.388	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	Missense_Mutation	A	128848810	T	A	128848810	5	1	260	1	0	0	0	0	0	0	1	0	881	1797	62	5	4348	5	ARHGAP32	11	128848810	Splice_Site	SNP	T	TCGA-24-1844-01A-01W-0639-09	5000950	128848810	6157706	88	14410											
ADAMTS8	11095	genome.wustl.edu	37	11	130284468	130284468	+	Silent	SNP	T	T	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr11:130284468T>A	ENST00000257359.6	-	5	2230	c.1524A>T	c.(1522-1524)tcA>tcT	p.S508S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	508	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGCTGCCTTCTGAGCAGAGGT	0.627																																																0			11											45	50	48					11																	130284468		2007	4159	6166	129789678	SO:0001819	synonymous_variant	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1524A>T	11.37:g.130284468T>A			129789678	Q9NZS0	Silent	SNP	ENST00000257359.6	37	CCDS41732.1																																																																																				0.627	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		A	130284468	T	A	130284468	2	1	260	1	0	0	0	0	0	0	0	1	272	1567	55	5		5	ADAMTS8	11	130284468	Silent	SNP	T	TCGA-24-1844-01A-01W-0639-09	1435658	130284468	4722048	89	14411											
A2ML1	144568	genome.wustl.edu	37	12	9021759	9021759	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:9021759T>C	ENST00000299698.7	+	33	4361	c.4181T>C	c.(4180-4182)gTt>gCt	p.V1394A	A2ML1_ENST00000539547.1_Missense_Mutation_p.V903A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTGAAGAAGGTTGAATTTGGA	0.448																																																0			12											196	189	191					12																	9021759		1865	4096	5961	8913026	SO:0001583	missense	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.4181T>C	12.37:g.9021759T>C	ENSP00000299698:p.Val1394Ala		8913026		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914029	0.52546	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.24908	1.83;1.83;1.83	3.9	3.9	0.45041	Alpha-macroglobulin, receptor-binding (3);	0.519165	0.15916	N	0.238393	T	0.33381	0.0861	M	0.63428	1.95	0.24140	N	0.995732	P	0.37663	0.604	P	0.46452	0.517	T	0.15492	-1.0435	10	0.48119	T	0.1	.	7.5906	0.28019	0.0:0.0:0.2175:0.7825	.	1394	A8K2U0	A2ML1_HUMAN	A	1394;1394;944;903	ENSP00000299698:V1394A;ENSP00000443174:V944A;ENSP00000438292:V903A	ENSP00000299698:V1394A	V	+	2	0	A2ML1	8913026	0.939000	0.31865	1.000000	0.80357	0.945000	0.59286	1.096000	0.30976	1.983000	0.57843	0.533000	0.62120	GTT		0.448	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		C	9021759	T	C	9021759	3	2	260	1	0	0	0	0	1	0	0	0	5	1725	60	4	4311	4	A2ML1	12	9021759	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09		9021759	124830136	90	14412											
KLRG1	10219	genome.wustl.edu	37	12	9161608	9161608	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:9161608G>T	ENST00000266551.4	+	4	410	c.395G>T	c.(394-396)tGg>tTg	p.W132L	KLRG1_ENST00000538029.1_3'UTR|KLRG1_ENST00000356986.3_Missense_Mutation_p.W132L	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	132	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GCCTTTTGCTGGATTGGTCTG	0.448																																																0			12											94	93	93					12																	9161608		2203	4300	6503	9052875	SO:0001583	missense	10219			AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"Killer cell lectin-like receptors", "C-type lectin domain containing"	6380	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member A"	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.395G>T	12.37:g.9161608G>T	ENSP00000266551:p.Trp132Leu		9052875	B7ZAM2|O43198|O75613	Missense_Mutation	SNP	ENST00000266551.4	37		.	.	.	.	.	.	.	.	.	.	G	12.85	2.062281	0.36373	.	.	ENSG00000139187	ENST00000539240;ENST00000356986;ENST00000266551;ENST00000543895	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	3.61	3.61	0.41365	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.43110	D	0.000618	T	0.78483	0.4290	H	0.96547	3.84	0.39197	D	0.963074	D;D	0.89917	1.0;0.996	D;P	0.75020	0.985;0.871	D	0.84946	0.0868	10	0.87932	D	0	-4.0638	11.0518	0.47894	0.0:0.0:1.0:0.0	.	132;132	Q96E93;Q96E93-2	KLRG1_HUMAN;.	L	53;132;132;53	ENSP00000445627:W53L;ENSP00000349477:W132L;ENSP00000266551:W132L;ENSP00000443658:W53L	ENSP00000266551:W132L	W	+	2	0	KLRG1	9052875	1.000000	0.71417	0.988000	0.46212	0.008000	0.06430	3.508000	0.53378	2.279000	0.76181	0.643000	0.83706	TGG		0.448	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		T	9161608	G	T	9161608	3	4	260	1	0	0	0	0	1	0	0	0	8421	1357	47	3	409	3	KLRG1	12	9161608	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	139849	9161608	124690287	91	14413											
ABCC9	10060	genome.wustl.edu	37	12	21968763	21968763	+	Silent	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:21968763G>A	ENST00000261201.4	-	32	3956	c.3957C>T	c.(3955-3957)gtC>gtT	p.V1319V	ABCC9_ENST00000345162.2_Silent_p.V1283V|ABCC9_ENST00000261200.4_Silent_p.V1319V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1319	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTCATATCTGACACACAGAT	0.398																																																0			12											164	147	153					12																	21968763		2203	4300	6503	21860030	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3957C>T	12.37:g.21968763G>A			21860030	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	21968763	G	A	21968763	2	1	260	1	0	0	0	0	0	0	0	1	59	1277	45	2		2	ABCC9	12	21968763	Silent	SNP	G	TCGA-24-1844-01A-01W-0639-09	12807155	21968763	111883132	92	14414											
SCN8A	6334	genome.wustl.edu	37	12	52162857	52162857	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:52162857T>G	ENST00000354534.6	+	17	3288	c.3110T>G	c.(3109-3111)tTg>tGg	p.L1037W	SCN8A_ENST00000545061.1_Missense_Mutation_p.L1037W	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1037					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTGGATGAGTTGTATGAAAAG	0.522																																																0			12											68	71	70					12																	52162857		2101	4234	6335	50449124	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3110T>G	12.37:g.52162857T>G	ENSP00000346534:p.Leu1037Trp		50449124	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547286	0.86022	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.84589	-1.87;-1.87;-1.87	4.55	4.55	0.56014	Sodium ion transport-associated (1);	0.452253	0.21641	N	0.071334	D	0.91865	0.7425	M	0.77486	2.375	0.47276	D	0.999375	D;D	0.89917	1.0;0.992	D;D	0.76071	0.987;0.928	D	0.92735	0.6203	10	0.72032	D	0.01	.	14.9638	0.71176	0.0:0.0:0.0:1.0	.	1037;1037	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	W	1037;1037;1037;950	ENSP00000346534:L1037W;ENSP00000440360:L1037W;ENSP00000347255:L1037W	ENSP00000346534:L1037W	L	+	2	0	SCN8A	50449124	1.000000	0.71417	0.978000	0.43139	0.981000	0.71138	7.649000	0.83500	2.272000	0.75746	0.460000	0.39030	TTG		0.522	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		G	52162857	T	G	52162857	3	3	260	1	0	0	0	0	1	0	0	0	13927	1821	63	5	3172	5	SCN8A	12	52162857	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	30194094	52162857	81689038	93	14415											
OR6C2	341416	genome.wustl.edu	37	12	55846284	55846284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:55846284delC	ENST00000322678.1	+	1	287	c.287delC	c.(286-288)gccfs	p.A96fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	96					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AATGCTTGTGCCAGTCAAATA	0.388																																																0			12											147	146	146					12																	55846284		2203	4299	6502	54132551	SO:0001589	frameshift_variant	341416			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.287delC	12.37:g.55846284delC	ENSP00000323606:p.Ala96fs		54132551		Frame_Shift_Del	DEL	ENST00000322678.1	37	CCDS31824.1																																																																																				0.388	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		-	55846284	C	-	55846284	7	5	260	1	0	1	0	1	0	0	0	0	11191	739	26	0	289	0	OR6C2	12	55846284	Frame_Shift_Del	DEL	C	TCGA-24-1844-01A-01W-0639-09	3683427	55846284	78005611	94	14416											
DUSP6	1848	genome.wustl.edu	37	12	89743205	89743205	+	Silent	SNP	T	T	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:89743205T>C	ENST00000279488.7	-	3	2203	c.972A>G	c.(970-972)aaA>aaG	p.K324K	DUSP6_ENST00000547291.1_Silent_p.K199K|DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000308385.6_Silent_p.K178K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	324	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						ATTTTTTCATTTTGACAATGT	0.488																																					Colon(132;3456 5224)											0			12											145	134	138					12																	89743205		2203	4300	6503	88267336	SO:0001819	synonymous_variant	1848			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.972A>G	12.37:g.89743205T>C			88267336	O75109|Q53Y75|Q9BSH6	Silent	SNP	ENST00000279488.7	37	CCDS9033.1																																																																																				0.488	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		C	89743205	T	C	89743205	2	2	260	1	0	0	0	0	0	0	0	1	4829	1838	64	4		4	DUSP6	12	89743205	Silent	SNP	T	TCGA-24-1844-01A-01W-0639-09	33896921	89743205	44108690	95	14417											
CCDC41	51134	genome.wustl.edu	37	12	94797029	94797029	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:94797029G>C	ENST00000397809.5	-	5	883	c.334C>G	c.(334-336)Cca>Gca	p.P112A	CCDC41_ENST00000547575.1_Missense_Mutation_p.P112A|CCDC41_ENST00000339839.5_Missense_Mutation_p.P112A|CCDC41_ENST00000397807.2_Missense_Mutation_p.P79A|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		104					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AATTTTTGTGGAGTTAATATC	0.303																																																0			12											125	118	120					12																	94797029		1805	4062	5867	93321160	SO:0001583	missense	51134																														ENST00000397809.5:c.334C>G	12.37:g.94797029G>C	ENSP00000380911:p.Pro112Ala		93321160	A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889777	0.72524	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.62788	0.27;0.27;0.26;-0.0	5.24	5.24	0.73138	.	.	.	.	.	T	0.68997	0.3062	M	0.66939	2.045	0.46078	D	0.998855	D;D;P	0.55385	0.971;0.971;0.911	P;P;P	0.55749	0.783;0.71;0.475	T	0.66073	-0.6014	9	0.06236	T	0.91	-3.4615	16.5899	0.84762	0.0:0.0:1.0:0.0	.	112;79;104	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	A	112;112;79;112	ENSP00000344655:P112A;ENSP00000380911:P112A;ENSP00000380909:P79A;ENSP00000448913:P112A	ENSP00000344655:P112A	P	-	1	0	CCDC41	93321160	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	4.713000	0.61895	2.456000	0.83038	0.585000	0.79938	CCA		0.303	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			C	94797029	G	C	94797029	3	2	260	1	0	0	0	0	1	0	0	0	2813	1174	41	3	1823	3	CCDC41	12	94797029	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	5053824	94797029	39054866	96	14418											
GAS2L3	283431	genome.wustl.edu	37	12	101018624	101018624	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:101018624G>A	ENST00000539410.1	+	9	2427	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	GAS2L3_ENST00000547754.1_Missense_Mutation_p.D681N|GAS2L3_ENST00000266754.5_Missense_Mutation_p.D681N|GAS2L3_ENST00000537247.1_Missense_Mutation_p.D577N			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	681					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GGAAGATGATGACCATTATTT	0.348																																																0			12											47	55	52					12																	101018624		2203	4300	6503	99542755	SO:0001583	missense	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.2041G>A	12.37:g.101018624G>A	ENSP00000439672:p.Asp681Asn		99542755	B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490295	0.84962	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.41758	1.09;1.09;0.99;1.09	6.02	6.02	0.97574	.	0.206615	0.43919	D	0.000508	T	0.64918	0.2642	M	0.63843	1.955	0.36933	D	0.892006	D	0.89917	1.0	D	0.74674	0.984	T	0.67639	-0.5619	10	0.66056	D	0.02	-20.2503	20.5407	0.99260	0.0:0.0:1.0:0.0	.	681	Q86XJ1	GA2L3_HUMAN	N	681;681;577;681	ENSP00000266754:D681N;ENSP00000448955:D681N;ENSP00000442406:D577N;ENSP00000439672:D681N	ENSP00000266754:D681N	D	+	1	0	GAS2L3	99542755	1.000000	0.71417	0.983000	0.44433	0.832000	0.47134	4.806000	0.62569	2.865000	0.98341	0.655000	0.94253	GAC		0.348	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		A	101018624	G	A	101018624	3	1	260	1	0	0	0	0	1	0	0	0	6248	1290	45	2	2071	2	GAS2L3	12	101018624	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	6221595	101018624	32833271	97	14419											
UTP20	27340	genome.wustl.edu	37	12	101685569	101685569	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:101685569A>G	ENST00000261637.4	+	9	1115	c.941A>G	c.(940-942)gAa>gGa	p.E314G		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	314					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)			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						AACTGTTGTGAAAGTTCTGAA	0.363																																																0			12											61	60	60					12																	101685569		2203	4300	6503	100209700	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.941A>G	12.37:g.101685569A>G	ENSP00000261637:p.Glu314Gly		100209700	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.821436	0.32237	.	.	ENSG00000120800	ENST00000261637	T	0.67345	-0.26	5.79	4.64	0.57946	Armadillo-type fold (1);	0.371601	0.30428	N	0.009651	T	0.48484	0.1502	L	0.28740	0.885	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.19289	-1.0310	10	0.21540	T	0.41	-14.4068	6.5773	0.22573	0.7876:0.0:0.0757:0.1367	.	314	O75691	UTP20_HUMAN	G	314	ENSP00000261637:E314G	ENSP00000261637:E314G	E	+	2	0	UTP20	100209700	0.969000	0.33509	0.534000	0.28014	0.864000	0.49448	1.752000	0.38349	2.207000	0.71202	0.533000	0.62120	GAA		0.363	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		G	101685569	A	G	101685569	3	3	260	1	0	0	0	0	1	0	0	0	17099	246	9	4	975	4	UTP20	12	101685569	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	666945	101685569	32166326	98	14420											
NCOR2	9612	genome.wustl.edu	37	12	124812127	124812127	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr12:124812127C>T	ENST00000405201.1	-	45	7011	c.7011G>A	c.(7009-7011)atG>atA	p.M2337I	NCOR2_ENST00000404121.2_Missense_Mutation_p.M1898I|NCOR2_ENST00000397355.1_Missense_Mutation_p.M2328I|NCOR2_ENST00000404621.1_Missense_Mutation_p.M2327I|NCOR2_ENST00000429285.2_Missense_Mutation_p.M2327I|NCOR2_ENST00000356219.3_Missense_Mutation_p.M2344I			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2348					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCCAGCCCCATGTTGGTGC	0.557																																																0			12											65	67	66					12																	124812127		1935	4147	6082	123378080	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.7011G>A	12.37:g.124812127C>T	ENSP00000384018:p.Met2337Ile		123378080	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.60|14.60	2.585231|2.585231	0.46110|0.46110	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000418829;ENST00000413172	T;T;T;T;T;T|.	0.16196|.	2.36;2.62;2.36;2.62;2.36;2.62|.	5.18|5.18	4.29|4.29	0.51040|0.51040	.|.	0.158618|.	0.56097|.	D|.	0.000030|.	T|.	0.55226|.	0.1907|.	L|L	0.36672|0.36672	1.1|1.1	0.39806|0.39806	D|D	0.972639|0.972639	P;P|.	0.51933|.	0.949;0.936|.	D;P|.	0.63381|.	0.914;0.901|.	T|.	0.53634|.	-0.8411|.	10|.	0.33940|.	T|.	0.23|.	-23.9286|-23.9286	13.2765|13.2765	0.60189|0.60189	0.0:0.9234:0.0:0.0766|0.0:0.9234:0.0:0.0766	.|.	2328;2337|.	C9J239;C9JFD3|.	.;.|.	I|X	2337;2327;2344;2328;2336;1898;429;2327|45;2	ENSP00000384018:M2337I;ENSP00000384202:M2327I;ENSP00000348551:M2344I;ENSP00000380513:M2328I;ENSP00000385618:M1898I;ENSP00000400281:M2327I|.	ENSP00000348551:M2344I|.	M|W	-|-	3|2	0|0	NCOR2|NCOR2	123378080|123378080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.456000|1.456000	0.35201|0.35201	1.164000|1.164000	0.42652|0.42652	0.491000|0.491000	0.48974|0.48974	ATG|TGG		0.557	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		T	124812127	C	T	124812127	3	4	260	1	0	0	0	0	1	0	0	0	10236	594	21	2	545	2	NCOR2	12	124812127	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	23126558	124812127	9039768	99	14421											
GJA3	2700	genome.wustl.edu	37	13	20717150	20717150	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr13:20717150A>G	ENST00000241125.3	-	2	454	c.278T>C	c.(277-279)cTg>cCg	p.L93P		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	93					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CACGTGGCCCAGGTAGATGAG	0.617																																																0			13											67	60	62					13																	20717150		2203	4300	6503	19615150	SO:0001583	missense	2700			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.278T>C	13.37:g.20717150A>G	ENSP00000241125:p.Leu93Pro		19615150	Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404148	0.83230	.	.	ENSG00000121743	ENST00000241125	D	0.99298	-5.71	5.36	5.36	0.76844	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000005	D	0.99302	0.9756	M	0.83774	2.66	0.80722	D	1	D	0.59357	0.985	P	0.61328	0.887	D	0.98928	1.0786	10	0.87932	D	0	.	15.363	0.74496	1.0:0.0:0.0:0.0	.	93	Q9Y6H8	CXA3_HUMAN	P	93	ENSP00000241125:L93P	ENSP00000241125:L93P	L	-	2	0	GJA3	19615150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.213000	0.95133	2.037000	0.60232	0.459000	0.35465	CTG		0.617	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		G	20717150	A	G	20717150	3	3	260	1	0	0	0	0	1	0	0	0	6402	188	7	4	1033	4	GJA3	13	20717150	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09		20717150	94452728	100	14422											
FRY	10129	genome.wustl.edu	37	13	32749719	32749719	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr13:32749719C>A	ENST00000380250.3	+	20	2867	c.2371C>A	c.(2371-2373)Cta>Ata	p.L791I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	791						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CATGGATCAGCTAAGTTCTTC	0.443																																																0			13											163	156	158					13																	32749719		1916	4122	6038	31647719	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2371C>A	13.37:g.32749719C>A	ENSP00000369600:p.Leu791Ile		31647719	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928540	0.73327	.	.	ENSG00000073910	ENST00000380250	T	0.24151	1.87	5.9	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.55834	1.745	0.80722	D	1	D	0.57899	0.981	P	0.53266	0.722	T	0.03121	-1.1070	10	0.36615	T	0.2	.	7.8919	0.29682	0.1327:0.7211:0.0:0.1462	.	791	Q5TBA9	FRY_HUMAN	I	791	ENSP00000369600:L791I	ENSP00000369600:L791I	L	+	1	2	FRY	31647719	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	2.292000	0.43549	0.811000	0.34303	0.650000	0.86243	CTA		0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		A	32749719	C	A	32749719	3	1	260	1	0	0	0	0	1	0	0	0	6063	796	28	3	2449	3	FRY	13	32749719	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	12032569	32749719	82420159	101	14423											
ZC3H13	23091	genome.wustl.edu	37	13	46563095	46563095	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr13:46563095C>T	ENST00000242848.4	-	9	1430	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R361Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	361	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		AGTTAGTGTCCGCTGATAAGA	0.463																																					Esophageal Squamous(187;747 2077 11056 31291 44172)											0			13											183	161	168					13																	46563095		2203	4300	6503	45461096	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1082G>A	13.37:g.46563095C>T	ENSP00000242848:p.Arg361Gln		45461096	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	C	18.35	3.604912	0.66445	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35789	2.23;1.29	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000003	T	0.52549	0.1741	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.41034	-0.9531	10	0.41790	T	0.15	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	361;361	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	361;361;177	ENSP00000242848:R361Q;ENSP00000282007:R361Q	ENSP00000242848:R361Q	R	-	2	0	ZC3H13	45461096	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.941000	0.70195	2.850000	0.98022	0.650000	0.86243	CGG		0.463	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		T	46563095	C	T	46563095	3	4	260	1	0	0	0	0	1	0	0	0	17565	652	23	1	3648	1	ZC3H13	13	46563095	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	13813376	46563095	68606783	102	14424											
COL4A1	1282	genome.wustl.edu	37	13	110804761	110804761	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr13:110804761A>T	ENST00000375820.4	-	51	4969	c.4848T>A	c.(4846-4848)tgT>tgA	p.C1616*		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1616	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CACGGCCGTGACACTCGATGA	0.577																																																0			13											81	67	72					13																	110804761		2203	4300	6503	109602762	SO:0001587	stop_gained	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4848T>A	13.37:g.110804761A>T	ENSP00000364979:p.Cys1616*		109602762	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	A	44	10.834545	0.99475	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	.	.	.	5.51	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5878	0.61942	0.0757:0.0:0.9243:0.0	.	.	.	.	X	1259;1616;1265	.	ENSP00000364973:C1259X	C	-	3	2	COL4A1	109602762	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.461000	0.45040	1.304000	0.44892	-0.248000	0.11899	TGT		0.577	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			T	110804761	A	T	110804761	4	4	260	1	0	0	0	0	0	1	0	0	3689	273	10	5	169	5	COL4A1	13	110804761	Nonsense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	64241666	110804761	4365117	103	14425											
OR4K17	390436	genome.wustl.edu	37	14	20586395	20586395	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr14:20586395T>C	ENST00000315543.4	+	1	830	c.830T>C	c.(829-831)gTg>gCg	p.V277A		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CACATCACAGTGGTGATTCTC	0.433																																																0			14											141	127	132					14																	20586395		2203	4300	6503	19656235	SO:0001583	missense	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.830T>C	14.37:g.20586395T>C	ENSP00000319197:p.Val277Ala		19656235	Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	16.23	3.065165	0.55432	.	.	ENSG00000176230	ENST00000315543	T	0.00237	8.47	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30969	U	0.008505	T	0.00328	0.0010	M	0.72479	2.2	0.22034	N	0.999406	P	0.49635	0.926	P	0.51999	0.687	T	0.41858	-0.9485	10	0.87932	D	0	.	10.2538	0.43385	0.0:0.0:0.0:1.0	.	249	Q8NGC6	OR4KH_HUMAN	A	277	ENSP00000319197:V277A	ENSP00000319197:V277A	V	+	2	0	OR4K17	19656235	0.072000	0.21174	0.968000	0.41197	0.884000	0.51177	1.446000	0.35090	1.292000	0.44672	0.332000	0.21555	GTG		0.433	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			C	20586395	T	C	20586395	3	2	260	1	0	0	0	0	1	0	0	0	11071	1696	59	4	832	4	OR4K17	14	20586395	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09		20586395	86763145	104	14426											
RPGRIP1	57096	genome.wustl.edu	37	14	21762967	21762967	+	Splice_Site	SNP	A	A	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr14:21762967A>T	ENST00000400017.2	+	2	217	c.217A>T	c.(217-219)Agg>Tgg	p.R73W	RPGRIP1_ENST00000206660.6_Splice_Site_p.R73W|RPGRIP1_ENST00000556336.1_Splice_Site_p.R73W|RPGRIP1_ENST00000557771.1_Splice_Site_p.R73W	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	73					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGAGATCAAAAGGTACTTAGA	0.413																																																0			14											48	46	47					14																	21762967		1838	4079	5917	20832807	SO:0001630	splice_region_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.218+1A>T	14.37:g.21762967A>T			20832807	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378055	0.82682	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.66	4.66	0.58398	.	0.127627	0.51477	D	0.000096	D	0.91412	0.7290	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	D	0.91793	0.5445	10	0.72032	D	0.01	-1.516	10.4191	0.44340	1.0:0.0:0.0:0.0	.	73	Q96KN7	RPGR1_HUMAN	W	73	ENSP00000450445:R73W;ENSP00000451219:R73W;ENSP00000382895:R73W;ENSP00000206660:R73W	ENSP00000206660:R73W	R	+	1	2	RPGRIP1	20832807	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.004000	0.49513	1.967000	0.57214	0.459000	0.35465	AGG		0.413	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	Missense_Mutation	T	21762967	A	T	21762967	5	4	260	1	0	0	0	0	0	0	1	0	13552	86	3	5	223	5	RPGRIP1	14	21762967	Splice_Site	SNP	A	TCGA-24-1844-01A-01W-0639-09	1176572	21762967	85586573	105	14427											
HEATR5A	25938	genome.wustl.edu	37	14	31813215	31813215	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr14:31813215T>A	ENST00000389961.3	-	20	3096	c.3097A>T	c.(3097-3099)Atg>Ttg	p.M1033L	HEATR5A_ENST00000543095.2_Missense_Mutation_p.M1039L|HEATR5A_ENST00000439348.1_Missense_Mutation_p.M1033L|HEATR5A_ENST00000439727.1_Missense_Mutation_p.M746L|HEATR5A_ENST00000404677.3_Missense_Mutation_p.M1039L			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1033										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTATCTTGCATTACTGCACAA	0.408																																																0			14											69	74	72					14																	31813215		2175	4295	6470	30882966	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3097A>T	14.37:g.31813215T>A	ENSP00000374611:p.Met1033Leu		30882966	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.56|17.56|17.56	3.419381|3.419381|3.419381	0.62622|0.62622|0.62622	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366|ENST00000538864;ENST00000549719	T;T;T;T;T|.|.	0.64618|.|.	-0.11;-0.11;-0.11;-0.11;-0.11|.|.	5.98|5.98|5.98	5.98|5.98|5.98	0.97165|0.97165|0.97165	Armadillo-type fold (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.70150|0.70150|.	0.3191|0.3191|.	L|L|L	0.54908|0.54908|0.54908	1.71|1.71|1.71	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;B;B|.|.	0.54397|.|.	0.966;0.34;0.296|.|.	D;B;B|.|.	0.68039|.|.	0.955;0.172;0.124|.|.	T|T|.	0.67604|0.67604|.	-0.5628|-0.5628|.	10|5|.	0.35671|.|.	T|.|.	0.21|.|.	.|.|.	16.4781|16.4781|16.4781	0.84144|0.84144|0.84144	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	1039;1033;1033|.|.	B5MC49;Q86XA9-2;Q86XA9|.|.	.;.;HTR5A_HUMAN|.|.	L|I|Y	1033;1033;746;1039;1039|681|666;57	ENSP00000374611:M1033L;ENSP00000405407:M1033L;ENSP00000408681:M746L;ENSP00000437968:M1039L;ENSP00000384646:M1039L|.|.	ENSP00000374611:M1033L|.|.	M|N|X	-|-|-	1|2|3	0|0|2	HEATR5A|HEATR5A|HEATR5A	30882966|30882966|30882966	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	7.981000|7.981000|7.981000	0.88123|0.88123|0.88123	2.288000|2.288000|2.288000	0.76882|0.76882|0.76882	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	ATG|AAT|TAA		0.408	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		A	31813215	T	A	31813215	3	1	260	1	0	0	0	0	1	0	0	0	7031	1493	52	5	3089	5	HEATR5A	14	31813215	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	10050248	31813215	75536325	106	14428											
MIPOL1	145282	genome.wustl.edu	37	14	37754635	37754635	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr14:37754635G>A	ENST00000327441.7	+	8	1072	c.606G>A	c.(604-606)atG>atA	p.M202I	MIPOL1_ENST00000539062.2_Missense_Mutation_p.M171I|MIPOL1_ENST00000536774.1_Missense_Mutation_p.M21I|MIPOL1_ENST00000556451.1_Missense_Mutation_p.M171I|MIPOL1_ENST00000537471.1_Missense_Mutation_p.M202I|MIPOL1_ENST00000545536.1_Missense_Mutation_p.M171I|MIPOL1_ENST00000396294.2_Missense_Mutation_p.M202I	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	202						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CCAAGCATATGGAAATGTCTC	0.358																																																0			14											167	150	156					14																	37754635		2203	4300	6503	36824386	SO:0001583	missense	145282			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.606G>A	14.37:g.37754635G>A	ENSP00000333539:p.Met202Ile		36824386	D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	8.585	0.883293	0.17467	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.40756	1.03;1.04;1.02;1.03;1.03;1.02	5.4	5.4	0.78164	.	0.338281	0.32106	N	0.006561	T	0.29684	0.0741	L	0.38531	1.155	0.32820	D	0.50265	B;B	0.23185	0.081;0.061	B;B	0.23275	0.033;0.045	T	0.32241	-0.9914	10	0.20046	T	0.44	-5.0971	8.0503	0.30575	0.0855:0.0:0.755:0.1595	.	202;171	Q8TD10;Q49AL5	MIPO1_HUMAN;.	I	202;21;171;171;202;202;171	ENSP00000333539:M202I;ENSP00000438319:M171I;ENSP00000450479:M171I;ENSP00000379589:M202I;ENSP00000444254:M202I;ENSP00000442529:M171I	ENSP00000333539:M202I	M	+	3	0	MIPOL1	36824386	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.010000	0.40913	2.539000	0.85634	0.561000	0.74099	ATG		0.358	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		A	37754635	G	A	37754635	3	1	260	1	0	0	0	0	1	0	0	0	9593	1348	47	2	624	2	MIPOL1	14	37754635	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	5941420	37754635	69594905	107	14429											
SYNE2	23224	genome.wustl.edu	37	14	64518400	64518400	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr14:64518400A>G	ENST00000344113.4	+	48	7981	c.7769A>G	c.(7768-7770)gAc>gGc	p.D2590G	SYNE2_ENST00000554584.1_Missense_Mutation_p.D2623G|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2590G|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2590					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CACGTGACTGACATGGATAAG	0.358																																																0			14											90	83	85					14																	64518400		1855	4102	5957	63588153	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7769A>G	14.37:g.64518400A>G	ENSP00000341781:p.Asp2590Gly		63588153	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	1.982	-0.433851	0.04669	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56776	1.37;1.37;0.44	5.9	-0.784	0.10954	.	0.789283	0.11617	N	0.546151	T	0.31796	0.0808	N	0.24115	0.695	0.19575	N	0.999969	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.18272	-1.0342	10	0.23302	T	0.38	.	5.6696	0.17715	0.4439:0.2605:0.2956:0.0	.	2590;2590	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	G	2590;2590;2623;2623	ENSP00000350719:D2590G;ENSP00000341781:D2590G;ENSP00000452570:D2623G	ENSP00000261678:D2623G	D	+	2	0	SYNE2	63588153	0.951000	0.32395	0.172000	0.22920	0.272000	0.26649	1.301000	0.33447	-0.363000	0.08101	0.528000	0.53228	GAC		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64518400	A	G	64518400	3	3	260	1	0	0	0	0	1	0	0	0	15446	275	10	4	7955	4	SYNE2	14	64518400	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09	26763765	64518400	42831140	108	14430											
RPS6KA5	9252	genome.wustl.edu	37	14	91386637	91386637	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr14:91386637C>T	ENST00000261991.3	-	7	892	c.719G>A	c.(718-720)aGt>aAt	p.S240N	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S161N|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.S240N	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	240	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AACACCCAAACTCCACCAGTC	0.294																																																0			14											93	100	98					14																	91386637		2203	4299	6502	90456390	SO:0001583	missense	9252			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.719G>A	14.37:g.91386637C>T	ENSP00000261991:p.Ser240Asn		90456390	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749552	0.89753	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52754	0.65;0.65;0.65	5.31	5.31	0.75309	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	0.79131	0.4394	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	0.967;1.0	P;D	0.75484	0.828;0.986	D	0.85839	0.1396	10	0.87932	D	0	.	18.9634	0.92685	0.0:1.0:0.0:0.0	.	240;240	O75582-2;O75582	.;KS6A5_HUMAN	N	240;161;240	ENSP00000261991:S240N;ENSP00000442803:S161N;ENSP00000402787:S240N	ENSP00000261991:S240N	S	-	2	0	RPS6KA5	90456390	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.099000	0.76981	2.469000	0.83416	0.650000	0.86243	AGT		0.294	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		T	91386637	C	T	91386637	3	4	260	1	0	0	0	0	1	0	0	0	13657	565	20	2	1739	2	RPS6KA5	14	91386637	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	26868237	91386637	15962903	109	14431											
SMG1	23049	genome.wustl.edu	37	16	18846266	18846268	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	CTT	CTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr16:18846266_18846268delCTT	ENST00000446231.2	-	49	8688_8690	c.8276_8278delAAG	c.(8275-8280)gaagga>gga	p.E2759del	SMG1_ENST00000389467.3_In_Frame_Del_p.E2759del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2759					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTCAAAGATCCTTCTTCTCCATT	0.379																																																0			16																																								18753769	SO:0001651	inframe_deletion	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8276_8278delAAG	16.37:g.18846269_18846271delCTT	ENSP00000402515:p.Glu2759del		18753767	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	In_Frame_Del	DEL	ENST00000446231.2	37	CCDS45430.1																																																																																				0.379	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		-	18846268	CTT	-	18846266	7	5	260	1	0	1	0	1	0	0	0	0	14798	690	24	0	2767	0	SMG1	16	18846266	In_Frame_Del	DEL	CTT	TCGA-24-1844-01A-01W-0639-09		18846266	71508487	110	14432											
PRKCB	5579	genome.wustl.edu	37	16	24202411	24202411	+	Splice_Site	SNP	C	C	T	rs201555288		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr16:24202411C>T	ENST00000321728.7	+	16	1898	c.1723C>T	c.(1723-1725)Ctg>Ttg	p.L575L	PRKCB_ENST00000303531.7_Splice_Site_p.L575L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	575	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)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCTCTCGAAGCTGATGACCAA	0.408																																																0			16											73	72	72					16																	24202411		2197	4300	6497	24109912	SO:0001630	splice_region_variant	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.1723-1C>T	16.37:g.24202411C>T			24109912	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	CCDS10618.1																																																																																				0.408	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	Silent	T	24202411	C	T	24202411	5	4	260	1	0	0	0	0	0	0	1	0	12511	811	28	2	1785	2	PRKCB	16	24202411	Splice_Site	SNP	C	TCGA-24-1844-01A-01W-0639-09	5356145	24202411	66152342	111	14433											
HYDIN	54768	genome.wustl.edu	37	16	70900208	70900208	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr16:70900208C>T	ENST00000393567.2	-	67	11485	c.11335G>A	c.(11335-11337)Gct>Act	p.A3779T	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3779					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTGAGTGAGCAGGTTCCGGA	0.458																																																0			16											14	13	13					16																	70900208		1776	4022	5798	69457709	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11335G>A	16.37:g.70900208C>T	ENSP00000377197:p.Ala3779Thr		69457709	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519381	0.27211	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00922	5.54	5.09	4.12	0.48240	.	0.000000	0.32736	U	0.005714	T	0.00967	0.0032	L	0.35288	1.05	0.80722	D	1	B	0.26002	0.139	B	0.24541	0.054	T	0.67154	-0.5742	10	0.20519	T	0.43	.	11.293	0.49261	0.0:0.9135:0.0:0.0865	.	3778	F8WD23	.	T	3779;3778	ENSP00000377197:A3779T	ENSP00000313052:A3778T	A	-	1	0	HYDIN	69457709	0.000000	0.05858	0.977000	0.42913	0.552000	0.35366	0.658000	0.24979	2.546000	0.85860	0.436000	0.28706	GCT		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70900208	C	T	70900208	3	4	260	1	0	0	0	0	1	0	0	0	7467	710	25	2	4110	2	HYDIN	16	70900208	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	46697797	70900208	19454545	112	14434											
TP53	7157	genome.wustl.edu	37	17	7578404	7578404	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr17:7578404A>T	ENST00000269305.4	-	5	715	c.526T>A	c.(526-528)Tgc>Agc	p.C176S	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176S|TP53_ENST00000420246.2_Missense_Mutation_p.C176S|TP53_ENST00000445888.2_Missense_Mutation_p.C176S|TP53_ENST00000359597.4_Missense_Mutation_p.C176S|TP53_ENST00000455263.2_Missense_Mutation_p.C176S	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(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)	TGGTGGGGGCAGCGCCTCACA	0.647		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"	80	Substitution - Missense(26)|Deletion - Frameshift(25)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)	breast(18)|haematopoietic_and_lymphoid_tissue(13)|oesophagus(10)|upper_aerodigestive_tract(8)|large_intestine(8)|stomach(4)|lung(4)|liver(4)|bone(4)|central_nervous_system(3)|ovary(2)|biliary_tract(1)|prostate(1)	17											49	49	49					17																	7578404		2203	4300	6503	7519129	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.526T>A	17.37:g.7578404A>T	ENSP00000269305:p.Cys176Ser		7519129	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	.	.	.	.	.	.	.	.	.	.	A	31	5.093655	0.94149	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	P;P;P;P;P;P;P	0.49253	0.869;0.654;0.767;0.866;0.921;0.703;0.81	D;P;P;D;P;P;P	0.67103	0.949;0.536;0.6;0.933;0.699;0.594;0.813	D	0.94964	0.8111	10	0.87932	D	0	-18.1821	14.037	0.64651	1.0:0.0:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176S;ENSP00000352610:C176S;ENSP00000269305:C176S;ENSP00000398846:C176S;ENSP00000391127:C176S;ENSP00000391478:C176S;ENSP00000425104:C44S;ENSP00000423862:C83S	ENSP00000269305:C176S	C	-	1	0	TP53	7519129	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.287000	0.95975	2.263000	0.75096	0.533000	0.62120	TGC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578404	A	T	7578404	3	4	260	1	0	0	0	0	1	0	0	0	16381	188	7	5	772	5	TP53	17	7578404	Missense_Mutation	SNP	A	TCGA-24-1844-01A-01W-0639-09		7578404	73616806	113	14435											
MYH8	4626	genome.wustl.edu	37	17	10293812	10293812	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr17:10293812C>G	ENST00000403437.2	-	40	5867	c.5773G>C	c.(5773-5775)Gtg>Ctg	p.V1925L	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1925					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGCTCTTCACTCGCAATTTG	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0			17											151	144	146					17																	10293812		2203	4300	6503	10234537	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5773G>C	17.37:g.10293812C>G	ENSP00000384330:p.Val1925Leu		10234537	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109803	0.77096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77620	-1.11	5.05	5.05	0.67936	Myosin tail (1);	0.000000	0.37577	U	0.002029	T	0.72366	0.3451	L	0.39020	1.185	0.47245	D	0.999364	B	0.06786	0.001	B	0.16289	0.015	T	0.69491	-0.5131	10	0.87932	D	0	.	18.6098	0.91281	0.0:1.0:0.0:0.0	.	1925	P13535	MYH8_HUMAN	L	1925	ENSP00000384330:V1925L	ENSP00000252173:V1925L	V	-	1	0	MYH8	10234537	0.980000	0.34600	1.000000	0.80357	0.945000	0.59286	5.882000	0.69714	2.621000	0.88768	0.650000	0.86243	GTG		0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		G	10293812	C	G	10293812	3	3	260	1	0	0	0	0	1	0	0	0	10041	565	20	3	44	3	MYH8	17	10293812	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	2715408	10293812	70901398	114	14436											
CCL11	6356	genome.wustl.edu	37	17	32612890	32612890	+	Silent	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr17:32612890G>T	ENST00000305869.3	+	1	204	c.63G>T	c.(61-63)ggG>ggT	p.G21G		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	21					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCCCCCAGGGGCTCGCTGGGC	0.562																																																0			17											103	104	104					17																	32612890		2203	4300	6503	29637003	SO:0001819	synonymous_variant	6356			AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"Chemokine ligands", "Endogenous ligands"	10610	protein-coding gene	gene with protein product	"eotaxin-1"	601156	"small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.63G>T	17.37:g.32612890G>T			29637003	P50877|Q92490|Q92491	Silent	SNP	ENST00000305869.3	37	CCDS11279.1																																																																																				0.562	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		T	32612890	G	T	32612890	2	4	260	1	0	0	0	0	0	0	0	1	2883	1190	42	3		3	CCL11	17	32612890	Silent	SNP	G	TCGA-24-1844-01A-01W-0639-09	22319078	32612890	48582320	115	14437											
RAPGEFL1	51195	genome.wustl.edu	37	17	38347911	38347911	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr17:38347911G>C	ENST00000456989.2	+	10	1185	c.1139G>C	c.(1138-1140)cGa>cCa	p.R380P	RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.R325P|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R325P|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R374P			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	531					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGCCGCCTTCGACTCACCTGG	0.687																																					Esophageal Squamous(28;274 750 6870 14218 42203)											0			17											24	24	24					17																	38347911		2202	4300	6502	35601437	SO:0001583	missense	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.1139G>C	17.37:g.38347911G>C	ENSP00000394530:p.Arg380Pro		35601437		Missense_Mutation	SNP	ENST00000456989.2	37		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716221	0.89205	.	.	ENSG00000108352	ENST00000456989;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T	0.32023	1.47;1.47;1.47	5.17	5.17	0.71159	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000002	T	0.56761	0.2007	M	0.78456	2.415	0.58432	D	0.999999	P;D	0.76494	0.484;0.999	P;D	0.67231	0.585;0.95	T	0.58707	-0.7589	10	0.54805	T	0.06	.	17.6129	0.88059	0.0:0.0:1.0:0.0	.	261;531	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	P	380;374;325;530;325	ENSP00000394530:R380P;ENSP00000438631:R374P;ENSP00000408322:R325P	ENSP00000264644:R530P	R	+	2	0	RAPGEFL1	35601437	0.727000	0.28069	1.000000	0.80357	0.691000	0.40173	2.651000	0.46674	2.711000	0.92665	0.561000	0.74099	CGA		0.687	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		C	38347911	G	C	38347911	3	2	260	1	0	0	0	0	1	0	0	0	13052	1058	37	3	1004	3	RAPGEFL1	17	38347911	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	5735021	38347911	42847299	116	14438											
COASY	80347	genome.wustl.edu	37	17	40717055	40717055	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr17:40717055T>G	ENST00000393818.2	+	5	1748	c.1292T>G	c.(1291-1293)tTt>tGt	p.F431C	COASY_ENST00000420359.1_Missense_Mutation_p.F431C|MLX_ENST00000346833.4_5'Flank|RP11-400F19.8_ENST00000585572.1_RNA|MLX_ENST00000246912.4_5'Flank|COASY_ENST00000449624.1_Missense_Mutation_p.F136C|COASY_ENST00000590958.1_Missense_Mutation_p.F460C|MLX_ENST00000435881.2_5'Flank|COASY_ENST00000421097.2_Missense_Mutation_p.F431C	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	431	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGCCGGGTGTTTGGGAATAAG	0.527																																																0			17											108	108	108					17																	40717055		2203	4300	6503	37970581	SO:0001583	missense	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1292T>G	17.37:g.40717055T>G	ENSP00000377406:p.Phe431Cys		37970581	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112494	0.77210	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	T;T;T	0.68903	-0.36;-0.36;-0.36	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.87334	0.6151	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91287	0.5056	10	0.87932	D	0	-12.9102	13.8075	0.63243	0.0:0.0:0.0:1.0	.	460;431	Q13057-2;Q13057	.;COASY_HUMAN	C	460;136;431;431	ENSP00000407740:F136C;ENSP00000413338:F431C;ENSP00000377406:F431C	ENSP00000377406:F431C	F	+	2	0	COASY	37970581	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.640000	0.61368	2.143000	0.66587	0.459000	0.35465	TTT		0.527	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		G	40717055	T	G	40717055	3	3	260	1	0	0	0	0	1	0	0	0	3652	1841	64	5	1401	5	COASY	17	40717055	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	2369144	40717055	40478155	117	14439											
PRKCA	5578	genome.wustl.edu	37	17	64800030	64800030	+	Nonsense_Mutation	SNP	C	C	T	rs561355502		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr17:64800030C>T	ENST00000413366.3	+	17	1920	c.1894C>T	c.(1894-1896)Cga>Tga	p.R632*		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	632	AGC-kinase C-terminal.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GTTCTTCACACGAGGACAGCC	0.468													C|||	1	0.000199681	0	0	5008	,	,		20340	0		0.001	False		,,,				2504	0															0			17											141	120	127					17																	64800030		2203	4300	6503	62230492	SO:0001587	stop_gained	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1894C>T	17.37:g.64800030C>T	ENSP00000408695:p.Arg632*		62230492	B5BU22|Q15137|Q32M72|Q96RE4	Nonsense_Mutation	SNP	ENST00000413366.3	37	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189770	0.94923	.	.	ENSG00000154229	ENST00000413366	.	.	.	5.57	4.58	0.56647	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	14.1235	0.65205	0.2729:0.7271:0.0:0.0	.	.	.	.	X	632	.	ENSP00000408695:R632X	R	+	1	2	PRKCA	62230492	0.997000	0.39634	0.830000	0.32933	0.496000	0.33645	3.627000	0.54252	1.310000	0.45006	0.655000	0.94253	CGA		0.468	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			T	64800030	C	T	64800030	4	4	260	1	0	0	0	0	0	1	0	0	12510	528	19	1	1960	1	PRKCA	17	64800030	Nonsense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	24082975	64800030	16395180	118	14440											
IMPA2	3613	genome.wustl.edu	37	18	12028084	12028084	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr18:12028084G>T	ENST00000269159.3	+	6	775	c.533G>T	c.(532-534)cGt>cTt	p.R178L	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	178					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GGCCCCAAACGTGACCCTGCG	0.507																																																0			18											125	112	117					18																	12028084		2203	4300	6503	12018084	SO:0001583	missense	3613			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.533G>T	18.37:g.12028084G>T	ENSP00000269159:p.Arg178Leu		12018084	B0YJ29|Q9UJT3	Missense_Mutation	SNP	ENST00000269159.3	37	CCDS11855.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806387	0.50421	.	.	ENSG00000141401	ENST00000269159	T	0.44083	0.93	5.84	5.84	0.93424	.	0.115998	0.56097	D	0.000028	T	0.48696	0.1514	M	0.76938	2.355	0.80722	D	1	P;B	0.43788	0.817;0.404	B;B	0.37047	0.24;0.223	T	0.58858	-0.7562	10	0.87932	D	0	-12.6218	20.1434	0.98067	0.0:0.0:1.0:0.0	.	151;178	O14732-2;O14732	.;IMPA2_HUMAN	L	178	ENSP00000269159:R178L	ENSP00000269159:R178L	R	+	2	0	IMPA2	12018084	1.000000	0.71417	0.930000	0.37139	0.316000	0.28119	5.290000	0.65661	2.769000	0.95229	0.563000	0.77884	CGT		0.507	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			T	12028084	G	T	12028084	3	4	260	1	0	0	0	0	1	0	0	0	7723	1145	40	3	555	3	IMPA2	18	12028084	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09		12028084	66049164	119	14441											
C18orf26	284254	genome.wustl.edu	37	18	52258469	52258469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr18:52258469G>T	ENST00000321600.1	+	1	80	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	DYNAP_ENST00000585973.1_Nonsense_Mutation_p.E15*	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	12					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGAACAAATTGAAAAATATTC	0.368																																																0			18											111	114	113					18																	52258469		2203	4300	6503	50409467	SO:0001587	stop_gained	284254			AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 26"	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.34G>T	18.37:g.52258469G>T	ENSP00000315265:p.Glu12*		50409467		Nonsense_Mutation	SNP	ENST00000321600.1	37	CCDS11957.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839973	0.51057	.	.	ENSG00000178690	ENST00000321600	.	.	.	5.21	3.42	0.39159	.	0.708385	0.12243	N	0.486281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.0826	8.2208	0.31541	0.1849:0.0:0.8151:0.0	.	.	.	.	X	12	.	ENSP00000315265:E12X	E	+	1	0	C18orf26	50409467	0.001000	0.12720	0.001000	0.08648	0.062000	0.15995	0.847000	0.27696	0.701000	0.31803	0.609000	0.83330	GAA		0.368	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629		T	52258469	G	T	52258469	4	4	260	1	0	0	0	0	0	1	0	0	1900	1291	45	3	36	3	C18orf26	18	52258469	Nonsense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	40230385	52258469	25818779	120	14442											
ZNF407	55628	genome.wustl.edu	37	18	72343936	72343936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr18:72343936C>T	ENST00000299687.5	+	1	961	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ZNF407_ENST00000309902.6_Nonsense_Mutation_p.R321*|ZNF407_ENST00000582337.1_Nonsense_Mutation_p.R321*|ZNF407_ENST00000577538.1_Nonsense_Mutation_p.R321*	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAGGATTACGAAATGTGGG	0.343																																																0			18											120	122	122					18																	72343936		1836	4092	5928	70472924	SO:0001587	stop_gained	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.961C>T	18.37:g.72343936C>T	ENSP00000299687:p.Arg321*		70472924	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Nonsense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912628	0.92178	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	.	.	.	5.03	-1.63	0.08345	.	1.065480	0.07772	U	0.951879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.9003	0.03266	0.4893:0.225:0.1177:0.168	.	.	.	.	X	321	.	ENSP00000299687:R321X	R	+	1	2	ZNF407	70472924	0.001000	0.12720	0.000000	0.03702	0.082000	0.17680	0.904000	0.28491	-0.565000	0.06061	-0.136000	0.14681	CGA		0.343	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		T	72343936	C	T	72343936	4	4	260	1	0	0	0	0	0	1	0	0	17887	528	19	1	963	1	ZNF407	18	72343936	Nonsense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	20085467	72343936	5733312	121	14443											
LONP1	9361	genome.wustl.edu	37	19	5713214	5713214	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:5713214G>A	ENST00000360614.3	-	3	726	c.569C>T	c.(568-570)aCg>aTg	p.T190M	LONP1_ENST00000540670.2_De_novo_Start_InFrame|LONP1_ENST00000593119.1_Missense_Mutation_p.T126M|LONP1_ENST00000590729.1_Missense_Mutation_p.T76M|LONP1_ENST00000585374.1_Missense_Mutation_p.T76M	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCAAACGTCCCCGTGTG	0.567																																																0			19											147	118	128					19																	5713214		2203	4300	6503	5664214	SO:0001583	missense	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.569C>T	19.37:g.5713214G>A	ENSP00000353826:p.Thr190Met		5664214		Missense_Mutation	SNP	ENST00000360614.3	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873073	0.51695	.	.	ENSG00000196365	ENST00000360614;ENST00000358403	T	0.56444	0.46	4.58	4.58	0.56647	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.114219	0.64402	D	0.000020	T	0.77054	0.4074	M	0.90977	3.165	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71414	0.973;0.973;0.973	D	0.83408	0.0026	10	0.87932	D	0	-10.1466	14.8681	0.70434	0.0:0.0:1.0:0.0	.	190;126;190	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	M	190;154	ENSP00000353826:T190M	ENSP00000351177:T154M	T	-	2	0	LONP1	5664214	1.000000	0.71417	0.565000	0.28409	0.100000	0.18952	8.967000	0.93402	2.096000	0.63516	0.313000	0.20887	ACG		0.567	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		A	5713214	G	A	5713214	3	1	260	1	0	0	0	0	1	0	0	0	8892	1145	40	1	2374	1	LONP1	19	5713214	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09		5713214	53415769	122	14444											
HOOK2	29911	genome.wustl.edu	37	19	12881807	12881807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:12881807G>A	ENST00000397668.3	-	10	914	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Nonsense_Mutation_p.Q281*	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	281	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTCAGCGCCTGGTTCCGGTGC	0.667																																																0			19											32	38	36					19																	12881807		2060	4197	6257	12742807	SO:0001587	stop_gained	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.841C>T	19.37:g.12881807G>A	ENSP00000380785:p.Gln281*		12742807	O60562	Nonsense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	g	38	6.679202	0.97755	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	.	.	.	4.8	4.8	0.61643	.	0.401902	0.25151	N	0.032760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-26.8779	13.1222	0.59334	0.0:0.1624:0.8376:0.0	.	.	.	.	X	281	.	ENSP00000264827:Q281X	Q	-	1	0	HOOK2	12742807	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.630000	0.54273	2.224000	0.72417	0.454000	0.30748	CAG		0.667	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		A	12881807	G	A	12881807	4	1	260	1	0	0	0	0	0	1	0	0	7283	1357	47	2	1374	2	HOOK2	19	12881807	Nonsense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	7168593	12881807	46247176	123	14445											
PIK3R2	5296	genome.wustl.edu	37	19	18273867	18273867	+	Silent	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:18273867C>T	ENST00000593731.1	+	10	1760	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D	PIK3R2_ENST00000222254.8_Silent_p.D400D			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	400	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CCGTTGTGGACCTCATCAATC	0.567																																																0			19											120	94	103					19																	18273867		2203	4300	6503	18134867	SO:0001819	synonymous_variant	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1200C>T	19.37:g.18273867C>T			18134867	Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	37	CCDS12371.1																																																																																				0.567	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		T	18273867	C	T	18273867	2	4	260	1	0	0	0	0	0	0	0	1	11919	506	18	2		2	PIK3R2	19	18273867	Silent	SNP	C	TCGA-24-1844-01A-01W-0639-09	5392060	18273867	40855116	124	14446											
MEGF8	1954	genome.wustl.edu	37	19	42867283	42867283	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:42867283C>T	ENST00000251268.6	+	35	6142	c.6142C>T	c.(6142-6144)Ccg>Tcg	p.P2048S	MEGF8_ENST00000334370.4_Missense_Mutation_p.P1981S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2048					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTCCCCCATGCCGGTGGAATC	0.647																																																0			19											124	106	112					19																	42867283		2203	4298	6501	47559123	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6142C>T	19.37:g.42867283C>T	ENSP00000251268:p.Pro2048Ser		47559123	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	C	10.23	1.293472	0.23564	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.19532	2.14;2.14	5.11	5.11	0.69529	.	0.078555	0.52532	D	0.000074	T	0.12135	0.0295	N	0.08118	0	0.58432	D	0.999997	B;P	0.42518	0.02;0.782	B;B	0.40256	0.024;0.324	T	0.15983	-1.0418	10	0.10902	T	0.67	-19.0304	17.701	0.88294	0.0:1.0:0.0:0.0	.	2048;1981	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	1981;2048	ENSP00000334219:P1981S;ENSP00000251268:P2048S	ENSP00000251268:P2048S	P	+	1	0	MEGF8	47559123	1.000000	0.71417	0.995000	0.50966	0.859000	0.49053	7.044000	0.76578	2.556000	0.86216	0.508000	0.49915	CCG		0.647	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		T	42867283	C	T	42867283	3	4	260	1	0	0	0	0	1	0	0	0	9463	739	26	2	6075	2	MEGF8	19	42867283	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	24593416	42867283	16261700	125	14447											
PSG3	5671	genome.wustl.edu	37	19	43244527	43244527	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:43244527G>A	ENST00000327495.5	-	1	194	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.L4F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	4					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGGGCTGAGAGGGGCCCCATG	0.602																																																0			19											143	153	149					19																	43244527		1511	2709	4220	47936367	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.10C>T	19.37:g.43244527G>A	ENSP00000332215:p.Leu4Phe		47936367	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	4.866	0.161027	0.09287	.	.	ENSG00000221826	ENST00000327495	T	0.20598	2.06	1.21	-0.166	0.13351	.	.	.	.	.	T	0.16471	0.0396	L	0.46157	1.445	0.09310	N	1	B	0.24043	0.096	B	0.25614	0.062	T	0.28332	-1.0047	9	0.42905	T	0.14	.	4.8445	0.13507	0.0:0.3975:0.6025:0.0	.	4	Q16557	PSG3_HUMAN	F	4	ENSP00000332215:L4F	ENSP00000332215:L4F	L	-	1	0	PSG3	47936367	0.006000	0.16342	0.039000	0.18376	0.179000	0.23085	2.197000	0.42696	0.030000	0.15379	0.121000	0.15741	CTC		0.602	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		A	43244527	G	A	43244527	3	1	260	1	0	0	0	0	1	0	0	0	12659	1000	35	2	1300	2	PSG3	19	43244527	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	377244	43244527	15884456	126	14448											
ZNF614	80110	genome.wustl.edu	37	19	52520484	52520484	+	Missense_Mutation	SNP	T	T	C	rs376806596		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:52520484T>C	ENST00000270649.6	-	5	911	c.367A>G	c.(367-369)Ata>Gta	p.I123V	ZNF614_ENST00000356322.6_Missense_Mutation_p.I123V	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTTTGCACTATAGGAAAATGT	0.348																																																0			19											88	84	85					19																	52520484		2203	4300	6503	57212296	SO:0001583	missense	80110			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.367A>G	19.37:g.52520484T>C	ENSP00000270649:p.Ile123Val		57212296	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	T	1.835	-0.468758	0.04445	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.06528	5.92;3.29	2.75	-4.61	0.03380	.	.	.	.	.	T	0.02767	0.0083	N	0.12182	0.205	0.09310	N	1	B;B	0.18863	0.031;0.013	B;B	0.11329	0.006;0.004	T	0.47812	-0.9088	9	0.16896	T	0.51	.	5.9083	0.19014	0.1144:0.0:0.2304:0.6552	.	123;123	Q8N883;Q9BSN8	ZN614_HUMAN;.	V	123	ENSP00000348674:I123V;ENSP00000270649:I123V	ENSP00000270649:I123V	I	-	1	0	ZNF614	57212296	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-1.365000	0.02587	-0.866000	0.04068	-0.254000	0.11334	ATA		0.348	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		C	52520484	T	C	52520484	3	2	260	1	0	0	0	0	1	0	0	0	18039	1406	49	4	1394	4	ZNF614	19	52520484	Missense_Mutation	SNP	T	TCGA-24-1844-01A-01W-0639-09	9275957	52520484	6608499	127	14449											
ZNF665	79788	genome.wustl.edu	37	19	53668185	53668185	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:53668185C>G	ENST00000600412.1	-	2	1478	c.1363G>C	c.(1363-1365)Ggc>Cgc	p.G455R	ZNF665_ENST00000396424.3_Missense_Mutation_p.G520R|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	455					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAGGCTTTGCCACACTCATTA	0.393																																																0			19											135	143	140					19																	53668185		2203	4300	6503	58359997	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1363G>C	19.37:g.53668185C>G	ENSP00000469154:p.Gly455Arg		58359997	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	C	16.98	3.271194	0.59649	.	.	ENSG00000197497	ENST00000396424	T	0.58506	0.33	2.55	-3.3	0.05003	.	.	.	.	.	T	0.70395	0.3219	M	0.78285	2.405	0.18873	N	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.62534	-0.6834	9	0.59425	D	0.04	.	8.0585	0.30619	0.0:0.6084:0.0:0.3916	.	520	Q9H7R5-2	.	R	520	ENSP00000379702:G520R	ENSP00000379702:G520R	G	-	1	0	ZNF665	58359997	0.000000	0.05858	0.000000	0.03702	0.626000	0.37791	0.143000	0.16115	-0.794000	0.04468	-0.300000	0.09419	GGC		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		G	53668185	C	G	53668185	3	3	260	1	0	0	0	0	1	0	0	0	18073	594	21	3	482	3	ZNF665	19	53668185	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	1147701	53668185	5460798	128	14450											
LILRA4	23547	genome.wustl.edu	37	19	54848239	54848239	+	Silent	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:54848239G>A	ENST00000291759.4	-	6	1184	c.1128C>T	c.(1126-1128)taC>taT	p.Y376Y	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	376	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		ATTCAGCCTGGTACTTATGAG	0.587																																																0			19											175	157	163					19																	54848239		2203	4300	6503	59540051	SO:0001819	synonymous_variant	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1128C>T	19.37:g.54848239G>A			59540051	Q32MC4	Silent	SNP	ENST00000291759.4	37	CCDS12890.1																																																																																				0.587	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		A	54848239	G	A	54848239	2	1	260	1	0	0	0	0	0	0	0	1	8787	1256	44	2		2	LILRA4	19	54848239	Silent	SNP	G	TCGA-24-1844-01A-01W-0639-09	1180054	54848239	4280744	129	14451											
NLRP7	199713	genome.wustl.edu	37	19	55450536	55450536	+	Silent	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:55450536G>A	ENST00000590030.1	-	3	1691	c.1651C>T	c.(1651-1653)Ctg>Ttg	p.L551L	NLRP7_ENST00000448121.2_Silent_p.L551L|NLRP7_ENST00000446217.1_Silent_p.L579L|NLRP7_ENST00000340844.2_Silent_p.L551L|NLRP7_ENST00000328092.5_Silent_p.L551L|NLRP7_ENST00000588756.1_Silent_p.L551L|NLRP7_ENST00000592784.1_Silent_p.L551L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	551							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGCATTGCAGCAATTCCTGT	0.527																																																0			19											86	86	86					19																	55450536		2203	4300	6503	60142348	SO:0001819	synonymous_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1651C>T	19.37:g.55450536G>A			60142348	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																				0.527	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55450536	G	A	55450536	2	1	260	1	0	0	0	0	0	0	0	1	10482	962	34	2		2	NLRP7	19	55450536	Silent	SNP	G	TCGA-24-1844-01A-01W-0639-09	602297	55450536	3678447	130	14452											
ZNF587	84914	genome.wustl.edu	37	19	58361424	58361424	+	Silent	SNP	G	G	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr19:58361424G>A	ENST00000339656.5	+	1	200	c.18G>A	c.(16-18)ccG>ccA	p.P6P	ZNF587B_ENST00000316462.4_Intron|ZNF814_ENST00000597652.1_5'UTR|ZNF587_ENST00000423137.1_Silent_p.P6P|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CGGCTGTGCCGAGGCGCCCAA	0.667																																					Pancreas(59;641 1233 1885 20055 50741)											0			19											53	52	52					19																	58361424		2203	4300	6503	63053236	SO:0001819	synonymous_variant	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.18G>A	19.37:g.58361424G>A			63053236	A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	CCDS12964.1																																																																																				0.667	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		A	58361424	G	A	58361424	2	1	260	1	0	0	0	0	0	0	0	1	18020	1045	37	1		1	ZNF587	19	58361424	Silent	SNP	G	TCGA-24-1844-01A-01W-0639-09	2910888	58361424	767559	131	14453											
PLCB1	23236	genome.wustl.edu	37	20	8782734	8782734	+	Intron	SNP	C	C	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr20:8782734C>G	ENST00000338037.6	+	31	3450				PLCB1_ENST00000378637.2_Missense_Mutation_p.T1152S|PLCB1_ENST00000378641.3_Missense_Mutation_p.T1152S	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)						activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTGTCGGAAACTTGCCATGAG	0.502																																																0			20											116	97	103					20																	8782734		2203	4300	6503	8730734	SO:0001627	intron_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3423+11826C>G	20.37:g.8782734C>G			8730734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	8.568	0.879373	0.17467	.	.	ENSG00000182621	ENST00000378641;ENST00000378637;ENST00000535719	T;T	0.17370	2.28;2.28	5.87	1.32	0.21799	.	.	.	.	.	T	0.12263	0.0298	N	0.22421	0.69	0.19775	N	0.999951	B	0.02656	0.0	B	0.04013	0.001	T	0.29397	-1.0013	9	0.13108	T	0.6	.	16.7332	0.85440	0.0:0.3754:0.6246:0.0	.	1152	Q9NQ66-2	.	S	1152;1152;1072	ENSP00000367908:T1152S;ENSP00000367904:T1152S	ENSP00000367904:T1152S	T	+	2	0	PLCB1	8730734	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	0.832000	0.27490	0.073000	0.16731	0.655000	0.94253	ACT		0.502	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			G	8782734	C	G	8782734	1	3	260	0	1	0	0	0	0	0	0	0	12027	565	20	3		3	PLCB1	20	8782734	Intron	SNP	C	TCGA-24-1844-01A-01W-0639-09		8782734	54242786	132	14454											
GRIK1	2897	genome.wustl.edu	37	21	30934040	30934040	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr21:30934040G>T	ENST00000399907.1	-	15	2672	c.2261C>A	c.(2260-2262)tCc>tAc	p.S754Y	GRIK1_ENST00000399909.1_Missense_Mutation_p.S739Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.S756Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.S754Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.S739Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.S754Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.S754Y|GRIK1_ENST00000399914.1_Missense_Mutation_p.S739Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.S756Y	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	754					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AATGCTGGTGGACTCCATCAG	0.542																																																0			21											162	131	142					21																	30934040		2203	4300	6503	29855911	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2261C>A	21.37:g.30934040G>T	ENSP00000382791:p.Ser754Tyr		29855911	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810223	0.90707	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69	4.96	4.96	0.65561	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52025	0.1709	H	0.95539	3.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.67348	-0.5693	10	0.87932	D	0	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	739;754;754;739	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	Y	754;739;754;739;756;615;754;754;739;756	ENSP00000327687:S754Y;ENSP00000373777:S739Y;ENSP00000382797:S754Y;ENSP00000382798:S739Y;ENSP00000446326:S756Y;ENSP00000373776:S754Y;ENSP00000382791:S754Y;ENSP00000382793:S739Y;ENSP00000311646:S756Y	ENSP00000311646:S756Y	S	-	2	0	GRIK1	29855911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.554000	0.98121	2.733000	0.93635	0.655000	0.94253	TCC		0.542	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			T	30934040	G	T	30934040	3	4	260	1	0	0	0	0	1	0	0	0	6773	1174	41	3	667	3	GRIK1	21	30934040	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09		30934040	17195855	133	14455											
SON	6651	genome.wustl.edu	37	21	34922365	34922365	+	Silent	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr21:34922365G>T	ENST00000356577.4	+	3	1303	c.828G>T	c.(826-828)ctG>ctT	p.L276L	SON_ENST00000381679.4_Silent_p.L276L|SON_ENST00000300278.4_Silent_p.L276L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.L276L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	276					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGTCTGTGCTGAAATCTGTGG	0.463											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			21											83	81	81					21																	34922365		2203	4300	6503	33844235	SO:0001819	synonymous_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.828G>T	21.37:g.34922365G>T		851	33844235	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1																																																																																				0.463	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		T	34922365	G	T	34922365	2	4	260	1	0	0	0	0	0	0	0	1	14929	1277	45	3		3	SON	21	34922365	Silent	SNP	G	TCGA-24-1844-01A-01W-0639-09	3988325	34922365	13207530	134	14456											
PRDM15	63977	genome.wustl.edu	37	21	43259738	43259738	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chr21:43259738G>C	ENST00000269844.3	-	14	2073	c.1963C>G	c.(1963-1965)Ccc>Gcc	p.P655A	PRDM15_ENST00000398548.1_Missense_Mutation_p.P326A|PRDM15_ENST00000447207.2_Missense_Mutation_p.P289A|PRDM15_ENST00000538201.1_Missense_Mutation_p.P289A|PRDM15_ENST00000422911.1_Missense_Mutation_p.P326A	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	655					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCACCTGTGGGTTCCTTGTCT	0.637																																																0			21											144	140	141					21																	43259738		2203	4300	6503	42132807	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1963C>G	21.37:g.43259738G>C	ENSP00000269844:p.Pro655Ala		42132807	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770944	0.15983	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.07567	3.24;3.22;3.25;3.22;3.18	4.67	3.73	0.42828	.	.	.	.	.	T	0.06142	0.0159	L	0.31294	0.92	0.42793	D	0.993902	B;B;B	0.14012	0.009;0.0;0.001	B;B;B	0.15052	0.012;0.001;0.002	T	0.30592	-0.9973	9	0.19590	T	0.45	-5.1576	8.7957	0.34878	0.1278:0.1399:0.7324:0.0	.	655;326;326	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	A	326;326;289;289;655;289	ENSP00000408592:P326A;ENSP00000381556:P326A;ENSP00000444044:P289A;ENSP00000390245:P289A;ENSP00000269844:P655A	ENSP00000269844:P655A	P	-	1	0	PRDM15	42132807	0.996000	0.38824	0.980000	0.43619	0.049000	0.14656	0.785000	0.26830	2.312000	0.78011	0.591000	0.81541	CCC		0.637	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		C	43259738	G	C	43259738	3	2	260	1	0	0	0	0	1	0	0	0	12459	1261	44	3	2632	3	PRDM15	21	43259738	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	8337373	43259738	4870157	135	14457											
PDK3	5165	genome.wustl.edu	37	X	24546201	24546201	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:24546201C>A	ENST00000379162.4	+	9	1096	c.861C>A	c.(859-861)gaC>gaA	p.D287E	PDK3_ENST00000441463.2_Missense_Mutation_p.D287E	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	287	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGATCAGTGACCTAGGTGGTG	0.408																																																0			X											120	95	103					X																	24546201		2203	4300	6503	24456122	SO:0001583	missense	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.861C>A	X.37:g.24546201C>A	ENSP00000368460:p.Asp287Glu		24456122	B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910586	0.52439	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	D;D	0.94966	-3.57;-3.57	4.97	4.97	0.65823	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.044787	0.85682	D	0.000000	D	0.98554	0.9517	H	0.99967	5.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.97540	1.0085	10	0.87932	D	0	.	7.6734	0.28471	0.0:0.7567:0.0:0.2432	.	287;287	B4DXG6;Q15120	.;PDK3_HUMAN	E	287	ENSP00000368460:D287E;ENSP00000387536:D287E	ENSP00000368460:D287E	D	+	3	2	PDK3	24456122	0.997000	0.39634	0.995000	0.50966	0.511000	0.34104	1.642000	0.37207	2.305000	0.77605	0.513000	0.50165	GAC		0.408	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		A	24546201	C	A	24546201	3	1	260	1	0	0	0	0	1	0	0	0	11677	506	18	3	895	3	PDK3	23	24546201	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09		24546201	130724359	136	14458											
BCOR	54880	genome.wustl.edu	37	X	39923122	39923122	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:39923122C>G	ENST00000378444.4	-	8	3814	c.3586G>C	c.(3586-3588)Gtg>Ctg	p.V1196L	BCOR_ENST00000378455.4_Intron|BCOR_ENST00000397354.3_Intron|BCOR_ENST00000342274.4_Intron|BCOR_ENST00000378463.1_Intron	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1196					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCAATGCACACCTTCAGGTTG	0.473			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0			X											64	61	62					X																	39923122		2202	4300	6502	39808066	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3586G>C	X.37:g.39923122C>G	ENSP00000367705:p.Val1196Leu		39808066	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362645	0.82353	.	.	ENSG00000183337	ENST00000378444	T	0.10192	2.9	5.52	5.52	0.82312	.	.	.	.	.	T	0.23649	0.0572	L	0.32530	0.975	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.01256	-1.1404	8	.	.	.	-18.4407	18.5259	0.90973	0.0:1.0:0.0:0.0	.	1196	Q6W2J9	BCOR_HUMAN	L	1196	ENSP00000367705:V1196L	.	V	-	1	0	BCOR	39808066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.691000	0.74573	2.317000	0.78254	0.529000	0.55759	GTG		0.473	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		G	39923122	C	G	39923122	3	3	260	1	0	0	0	0	1	0	0	0	1386	507	18	3	1713	3	BCOR	23	39923122	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	15376921	39923122	115347438	137	14459											
CASK	8573	genome.wustl.edu	37	X	41390328	41390341	+	Frame_Shift_Del	DEL	TCCCATACATCGCA	TCCCATACATCGCA	-	rs141158465		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	TCCCATACATCGCA	TCCCATACATCGCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:41390328_41390341delTCCCATACATCGCA	ENST00000378163.1	-	25	2913_2926	c.2439_2452delTGCGATGTATGGGA	c.(2437-2454)gatgcgatgtatgggacafs	p.AMYGT814fs	CASK_ENST00000378158.1_Frame_Shift_Del_p.AMYGT797fs|CASK_ENST00000378166.4_Frame_Shift_Del_p.AMYGT809fs|CASK_ENST00000361962.4_Frame_Shift_Del_p.AMYGT797fs|CASK_ENST00000442742.2_Frame_Shift_Del_p.AMYGT786fs|CASK_ENST00000318588.9_Frame_Shift_Del_p.AMYGT809fs|CASK_ENST00000421587.2_Frame_Shift_Del_p.AMYGT785fs			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	814	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TCCAGTTTTGTCCCATACATCGCATCCTCGTGGC	0.477																																					NSCLC(42;104 1086 3090 27189 35040)											0			X																																								41275285	SO:0001589	frameshift_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2439_2452delTGCGATGTATGGGA	X.37:g.41390328_41390341delTCCCATACATCGCA	ENSP00000367405:p.Ala814fs		41275272	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Frame_Shift_Del	DEL	ENST00000378163.1	37																																																																																					0.477	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		-	41390341	TCCCATACATCGCA	-	41390328	7	5	260	1	0	1	0	1	0	0	0	0	2665	1667	58	0	340	0	CASK	23	41390328	Frame_Shift_Del	DEL	TCCCATACATCGCA	TCGA-24-1844-01A-01W-0639-09	1467206	41390328	113880232	138	14460											
NUDT11	55190	genome.wustl.edu	37	X	51239216	51239216	+	Silent	SNP	G	G	A	rs200589562		TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:51239216G>A	ENST00000375992.3	-	1	232	c.81C>T	c.(79-81)agC>agT	p.S27S		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	27	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCTCGCGTTCGCTCCGGAAGC	0.682										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)											0			X						G		1,3833		0,1,1631,570	25	24	24		81	2	1	X		24	0,6727		0,0,2428,1871	no	coding-synonymous	NUDT11	NM_018159.3		0,1,4059,2441	AA,AG,GG,G		0.0,0.0261,0.0095		27/165	51239216	1,10560	2202	4299	6501	51255956	SO:0001819	synonymous_variant	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.81C>T	X.37:g.51239216G>A			51255956	Q9NVN0	Silent	SNP	ENST00000375992.3	37	CCDS43952.1																																																																																				0.682	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			A	51239216	G	A	51239216	2	1	260	1	0	0	0	0	0	0	0	1	10727	1078	38	1		1	NUDT11	23	51239216	Silent	SNP	G	TCGA-24-1844-01A-01W-0639-09	9848888	51239216	104031344	139	14461											
KDM5C	8242	genome.wustl.edu	37	X	53239909	53239917	+	In_Frame_Del	DEL	AAGGCTGAG	AAGGCTGAG	-			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	AAGGCTGAG	AAGGCTGAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:53239909_53239917delAAGGCTGAG	ENST00000375401.3	-	11	2056_2064	c.1524_1532delCTCAGCCTT	c.(1522-1533)ttctcagccttt>ttt	p.508_511FSAF>F	KDM5C_ENST00000375379.3_In_Frame_Del_p.508_511FSAF>F|KDM5C_ENST00000375383.3_In_Frame_Del_p.467_470FSAF>F|KDM5C_ENST00000465402.1_5'Flank|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000452825.3_In_Frame_Del_p.441_444FSAF>F|KDM5C_ENST00000404049.3_In_Frame_Del_p.507_510FSAF>F	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	508	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATGCCAGCAAAAGGCTGAGAAGACCATGC	0.526			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0			X																																								53256642	SO:0001651	inframe_deletion	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1524_1532delCTCAGCCTT	X.37:g.53239909_53239917delAAGGCTGAG	ENSP00000364550:p.Phe508_Ala510del		53256634	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	In_Frame_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.526	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53239917	AAGGCTGAG	-	53239909	7	5	260	1	0	1	0	1	0	0	0	0	8135	14	1	0	3312	0	KDM5C	23	53239909	In_Frame_Del	DEL	AAGGCTGAG	TCGA-24-1844-01A-01W-0639-09	2000693	53239909	102030651	140	14462											
ARR3	407	genome.wustl.edu	37	X	69497353	69497353	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:69497353C>A	ENST00000307959.8	+	9	634	c.583C>A	c.(583-585)Caa>Aaa	p.Q195K	ARR3_ENST00000374495.3_Missense_Mutation_p.Q195K	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	195					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCAGCCCCTACAACTCCAGGC	0.597																																																0			X											51	46	48					X																	69497353		2203	4300	6503	69414078	SO:0001583	missense	407				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.583C>A	X.37:g.69497353C>A	ENSP00000311538:p.Gln195Lys		69414078	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729576	0.48833	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.16897	2.31;2.31	4.69	2.78	0.32641	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.421459	0.28052	N	0.016788	T	0.12092	0.0294	L	0.31294	0.92	0.35966	D	0.834931	B;B	0.09022	0.001;0.002	B;B	0.15052	0.012;0.006	T	0.08973	-1.0696	10	0.54805	T	0.06	.	8.4273	0.32735	0.1517:0.7601:0.0:0.0882	.	195;195	P36575;P36575-2	ARRC_HUMAN;.	K	195	ENSP00000363619:Q195K;ENSP00000311538:Q195K	ENSP00000311538:Q195K	Q	+	1	0	ARR3	69414078	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.199000	0.51043	0.893000	0.36288	0.513000	0.50165	CAA		0.597	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		A	69497353	C	A	69497353	3	1	260	1	0	0	0	0	1	0	0	0	979	479	17	3	613	3	ARR3	23	69497353	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	16257444	69497353	85773207	141	14463											
PHKA1	5255	genome.wustl.edu	37	X	71813121	71813121	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:71813121G>T	ENST00000373542.4	-	29	3235	c.3076C>A	c.(3076-3078)Cct>Act	p.P1026T	PHKA1_ENST00000373539.3_Missense_Mutation_p.P1043T|PHKA1_ENST00000541944.1_Missense_Mutation_p.P954T|PHKA1_ENST00000373545.3_Missense_Mutation_p.P984T|PHKA1_ENST00000339490.3_Missense_Mutation_p.P1013T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1026					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAGGTTCCAGGTGACTTGGAA	0.408																																																0			X											64	56	59					X																	71813121		2203	4300	6503	71729846	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3076C>A	X.37:g.71813121G>T	ENSP00000362643:p.Pro1026Thr		71729846	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423101	0.25639	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90504	-2.64;-2.68;-2.64;-2.67;-2.63	5.05	4.19	0.49359	.	0.298224	0.32055	N	0.006645	D	0.83857	0.5345	L	0.45228	1.405	0.35458	D	0.796287	B;B;B;B	0.30763	0.294;0.215;0.106;0.138	B;B;B;B	0.25987	0.039;0.065;0.048;0.065	T	0.80162	-0.1497	10	0.12430	T	0.62	-6.04	10.524	0.44936	0.0979:0.0:0.9021:0.0	.	954;984;1013;1026	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	T	984;1026;954;1013;1043	ENSP00000362646:P984T;ENSP00000362643:P1026T;ENSP00000441251:P954T;ENSP00000342469:P1013T;ENSP00000362640:P1043T	ENSP00000342469:P1013T	P	-	1	0	PHKA1	71729846	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	2.980000	0.49321	0.914000	0.36822	0.594000	0.82650	CCT		0.408	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			T	71813121	G	T	71813121	3	4	260	1	0	0	0	0	1	0	0	0	11843	1261	44	3	611	3	PHKA1	23	71813121	Missense_Mutation	SNP	G	TCGA-24-1844-01A-01W-0639-09	2315768	71813121	83457439	142	14464											
BRWD3	254065	genome.wustl.edu	37	X	79943572	79943572	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:79943572C>T	ENST00000373275.4	-	34	4076	c.3860G>A	c.(3859-3861)aGa>aAa	p.R1287K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1287					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTCACCTTTCTTCCAGATGA	0.383																																																0			X											125	114	117					X																	79943572		2203	4300	6503	79830228	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3860G>A	X.37:g.79943572C>T	ENSP00000362372:p.Arg1287Lys		79830228	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	9.847	1.192629	0.21954	.	.	ENSG00000165288	ENST00000373275	T	0.17854	2.25	5.0	4.07	0.47477	Bromodomain (1);	0.332014	0.36628	N	0.002487	T	0.11965	0.0291	L	0.28649	0.875	0.28122	N	0.93058	B	0.14805	0.011	B	0.16722	0.016	T	0.12066	-1.0562	9	.	.	.	-16.6442	10.403	0.44241	0.1454:0.7714:0.0:0.0832	.	1287	Q6RI45	BRWD3_HUMAN	K	1287	ENSP00000362372:R1287K	.	R	-	2	0	BRWD3	79830228	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.789000	0.47813	2.299000	0.77371	0.594000	0.82650	AGA		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		T	79943572	C	T	79943572	3	4	260	1	0	0	0	0	1	0	0	0	1526	913	32	2	1580	2	BRWD3	23	79943572	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	8130451	79943572	75326988	143	14465											
PABPC5	140886	genome.wustl.edu	37	X	90691049	90691049	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:90691049C>A	ENST00000312600.3	+	2	687	c.473C>A	c.(472-474)gCc>gAc	p.A158D	PABPC5_ENST00000373105.1_5'UTR|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	158	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGGCCGCTGCCAATAGAGCC	0.507																																																0			X											53	47	49					X																	90691049		2203	4300	6503	90577705	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.473C>A	X.37:g.90691049C>A	ENSP00000308012:p.Ala158Asp		90577705	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945365	0.73672	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.32272	1.46	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83041	-0.0157	10	0.87932	D	0	.	13.8904	0.63736	0.0:1.0:0.0:0.0	.	158	Q96DU9	PABP5_HUMAN	D	158;126	ENSP00000308012:A158D	ENSP00000308012:A158D	A	+	2	0	PABPC5	90577705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.621000	0.67743	2.450000	0.82876	0.600000	0.82982	GCC		0.507	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		A	90691049	C	A	90691049	3	1	260	1	0	0	0	0	1	0	0	0	11367	739	26	3	475	3	PABPC5	23	90691049	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	10747477	90691049	64579511	144	14466											
HTR2C	3358	genome.wustl.edu	37	X	113965731	113965731	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1844-01A-01W-0639-09	TCGA-24-1844-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8ac8f7f3-99ca-438c-be13-1f05dec3b794	5a84bd05-0cd8-41bd-bfef-017a0c61c573	g.chrX:113965731C>A	ENST00000276198.1	+	4	792	c.64C>A	c.(64-66)Caa>Aaa	p.Q22K	HTR2C_ENST00000371950.3_Missense_Mutation_p.Q22K|HTR2C_ENST00000371951.1_Missense_Mutation_p.Q22K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	22					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATTGGTTTGGCAATGTGATAT	0.378																																																0			X											98	93	95					X																	113965731		2203	4300	6503	113871987	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.64C>A	X.37:g.113965731C>A	ENSP00000276198:p.Gln22Lys		113871987	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972488	0.53614	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.56611	0.45;0.45;0.67	4.57	4.57	0.56435	.	0.174472	0.36740	N	0.002428	T	0.33585	0.0868	N	0.14661	0.345	0.30677	N	0.752756	P;P	0.42409	0.779;0.462	B;B	0.41236	0.351;0.084	T	0.18745	-1.0327	10	0.07325	T	0.83	.	14.1718	0.65514	0.0:1.0:0.0:0.0	.	22;22	B1AMW4;P28335	.;5HT2C_HUMAN	K	22	ENSP00000276198:Q22K;ENSP00000361019:Q22K;ENSP00000361018:Q22K	ENSP00000276198:Q22K	Q	+	1	0	HTR2C	113871987	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.136000	0.42121	2.520000	0.84964	0.594000	0.82650	CAA		0.378	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		A	113965731	C	A	113965731	3	1	260	1	0	0	0	0	1	0	0	0	7443	711	25	3	70	3	HTR2C	23	113965731	Missense_Mutation	SNP	C	TCGA-24-1844-01A-01W-0639-09	23274682	113965731	41304829	145	14467											
DFFB	1677	genome.wustl.edu	37	1	3789098	3789098	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:3789098G>T	ENST00000378209.3	+	6	1067	c.744G>T	c.(742-744)gaG>gaT	p.E248D	DFFB_ENST00000338895.3_Missense_Mutation_p.E248D	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	248					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GTAACAGGGAGAGCAGGATCC	0.567																																																0			1											113	104	107					1																	3789098		2203	4300	6503	3778958	SO:0001583	missense	1677				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.744G>T	1.37:g.3789098G>T	ENSP00000367454:p.Glu248Asp		3778958	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000378209.3	37	CCDS52.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122547	0.77436	.	.	ENSG00000169598	ENST00000378209;ENST00000338895;ENST00000339350;ENST00000378206	T;T	0.50277	0.75;0.75	4.39	3.22	0.36961	Apoptosis, DNA fragmentation factor 40kDa (1);	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.87682	2.9	0.80722	D	1	D;D;D	0.64830	0.994;0.983;0.994	D;P;D	0.74348	0.983;0.779;0.983	T	0.69183	-0.5212	10	0.66056	D	0.02	-37.8639	6.1755	0.20441	0.2869:0.0:0.7131:0.0	.	272;184;248	B4DZS0;Q5SR21;O76075	.;.;DFFB_HUMAN	D	248;248;184;184	ENSP00000367454:E248D;ENSP00000339524:E248D	ENSP00000339524:E248D	E	+	3	2	DFFB	3778958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.954000	0.40362	1.996000	0.58369	0.449000	0.29647	GAG		0.567	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		T	3789098	G	T	3789098	3	4	261	1	0	0	0	0	1	0	0	0	4453	933	33	3	766	3	DFFB	1	3789098	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09		3789098	245461523	1	14468											
CAMTA1	23261	genome.wustl.edu	37	1	7700535	7700535	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:7700535C>A	ENST00000303635.7	+	7	793	c.586C>A	c.(586-588)Ctc>Atc	p.L196I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.L196I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGGCCCCATCCTCTGCTCCAT	0.612			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1											146	119	128					1																	7700535		2203	4300	6503	7623122	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.586C>A	1.37:g.7700535C>A	ENSP00000306522:p.Leu196Ile		7623122	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233474	0.58886	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.25085	1.82;1.82	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	T	0.16727	0.0402	L	0.27053	0.805	0.45747	D	0.99864	B	0.18968	0.032	B	0.17722	0.019	T	0.09422	-1.0675	10	0.22109	T	0.4	-18.9497	9.3324	0.38030	0.1434:0.782:0.0:0.0746	.	196	Q9Y6Y1	CMTA1_HUMAN	I	196	ENSP00000306522:L196I;ENSP00000402561:L196I	ENSP00000306522:L196I	L	+	1	0	CAMTA1	7623122	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.576000	0.46033	2.506000	0.84524	0.462000	0.41574	CTC		0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		A	7700535	C	A	7700535	3	1	261	1	0	0	0	0	1	0	0	0	2613	681	24	3	612	3	CAMTA1	1	7700535	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	3911437	7700535	241550086	2	14469											
ZSCAN20	7579	genome.wustl.edu	37	1	33955118	33955118	+	Splice_Site	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:33955118G>T	ENST00000361328.3	+	5	835	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	228					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CATCTCGCAGGAAGCCCTGGG	0.567																																																0			1											50	53	52					1																	33955118		1927	4129	6056	33727705	SO:0001630	splice_region_variant	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.682-1G>T	1.37:g.33955118G>T			33727705	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Nonsense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223344	0.58668	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.6	4.66	0.58398	.	0.307976	0.28241	N	0.016069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0841	12.6209	0.56603	0.0:0.1666:0.8334:0.0	.	.	.	.	X	228;162;162	.	.	E	+	1	0	ZSCAN20	33727705	1.000000	0.71417	0.993000	0.49108	0.081000	0.17604	0.880000	0.28159	1.474000	0.48178	0.555000	0.69702	GAA		0.567	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	Nonsense_Mutation	T	33955118	G	T	33955118	5	4	261	1	0	0	0	0	0	0	1	0	18232	1188	41	3	696	3	ZSCAN20	1	33955118	Splice_Site	SNP	G	TCGA-24-1845-01A-01W-0639-09	26254583	33955118	215295503	3	14470											
KIAA0467	23334	genome.wustl.edu	37	1	43908288	43908288	+	Splice_Site	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:43908288A>C	ENST00000562955.1	+	57	7979	c.7979A>C	c.(7978-7980)aAg>aCg	p.K2660T	SZT2_ENST00000372442.1_Splice_Site_p.K1818T	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2717					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGAGATGAAAAGGTGCCTGCT	0.517																																																0			1											85	87	87					1																	43908288		2203	4300	6503	43680875	SO:0001630	splice_region_variant	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7980+1A>C	1.37:g.43908288A>C			43680875	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027188	0.35797	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.6	5.6	0.85130	.	0.227348	0.45867	D	0.000334	T	0.45696	0.1355	N	0.22421	0.69	0.27414	N	0.954473	D	0.56035	0.974	P	0.58721	0.844	T	0.41734	-0.9492	9	0.49607	T	0.09	.	13.7409	0.62847	1.0:0.0:0.0:0.0	.	2660	Q5T011-5	.	T	1818	.	ENSP00000361519:K1818T	K	+	2	0	SZT2	43680875	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.650000	0.54424	2.140000	0.66376	0.533000	0.62120	AAG		0.517	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	Missense_Mutation	C	43908288	A	C	43908288	5	2	261	1	0	0	0	0	0	0	1	0	8178	86	3	5	5615	5	KIAA0467	1	43908288	Splice_Site	SNP	A	TCGA-24-1845-01A-01W-0639-09	9953170	43908288	205342333	4	14471											
SLC6A9	6536	genome.wustl.edu	37	1	44468304	44468304	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:44468304C>T	ENST00000360584.2	-	7	1148	c.957G>A	c.(955-957)acG>acA	p.T319T	SLC6A9_ENST00000537678.1_Silent_p.T181T|SLC6A9_ENST00000372310.3_Silent_p.T246T|SLC6A9_ENST00000475075.2_Silent_p.T135T|SLC6A9_ENST00000357730.2_Silent_p.T265T|SLC6A9_ENST00000372307.3_Silent_p.T181T|SLC6A9_ENST00000372306.3_Silent_p.T246T	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	319					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T246T(1)|p.T319T(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGAACGTGGCCGTGAAGTACA	0.622																																																2	Substitution - coding silent(2)	large_intestine(2)	1											96	95	95					1																	44468304		2203	4300	6503	44240891	SO:0001819	synonymous_variant	6536			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.957G>A	1.37:g.44468304C>T			44240891	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	CCDS41317.1																																																																																				0.622	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		T	44468304	C	T	44468304	2	4	261	1	0	0	0	0	0	0	0	1	14694	639	23	1		1	SLC6A9	1	44468304	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	560016	44468304	204782317	5	14472											
TMEM61	199964	genome.wustl.edu	37	1	55451905	55451905	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:55451905G>T	ENST00000371268.3	+	2	425	c.151G>T	c.(151-153)Gcc>Tcc	p.A51S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	51						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TGGCCAGCTGGCCCCACCCAC	0.667																																																0			1											45	47	46					1																	55451905		2203	4299	6502	55224493	SO:0001583	missense	199964			BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.151G>T	1.37:g.55451905G>T	ENSP00000360315:p.Ala51Ser		55224493		Missense_Mutation	SNP	ENST00000371268.3	37	CCDS601.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245149	0.39697	.	.	ENSG00000143001	ENST00000371268	T	0.56776	0.44	4.8	2.86	0.33363	.	0.566602	0.15785	N	0.244747	T	0.53769	0.1817	L	0.29908	0.895	0.09310	N	1	D	0.60160	0.987	P	0.61477	0.889	T	0.36866	-0.9730	10	0.46703	T	0.11	-14.389	8.9409	0.35729	0.0823:0.1474:0.7704:0.0	.	51	Q8N0U2	TMM61_HUMAN	S	51	ENSP00000360315:A51S	ENSP00000360315:A51S	A	+	1	0	TMEM61	55224493	0.000000	0.05858	0.040000	0.18447	0.047000	0.14425	0.326000	0.19646	1.209000	0.43321	0.655000	0.94253	GCC		0.667	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		T	55451905	G	T	55451905	3	4	261	1	0	0	0	0	1	0	0	0	16188	1203	42	3	157	3	TMEM61	1	55451905	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	10983601	55451905	193798716	6	14473											
DOCK7	85440	genome.wustl.edu	37	1	63119790	63119790	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:63119790T>A	ENST00000340370.5	-	3	202	c.185A>T	c.(184-186)gAt>gTt	p.D62V	DOCK7_ENST00000251157.5_Missense_Mutation_p.D62V|DOCK7_ENST00000404627.2_Missense_Mutation_p.D62V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	62					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AATGAGGTAATCTTCCAAATC	0.403																																																0			1											64	62	63					1																	63119790		2203	4300	6503	62892378	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.185A>T	1.37:g.63119790T>A	ENSP00000340742:p.Asp62Val		62892378	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688378	0.68271	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.20598	2.47;2.47;2.06	5.16	5.16	0.70880	.	0.315976	0.37955	N	0.001872	T	0.20536	0.0494	L	0.50333	1.59	0.80722	D	1	P;P;B	0.41710	0.76;0.71;0.403	B;P;P	0.48488	0.347;0.579;0.579	T	0.01071	-1.1461	10	0.62326	D	0.03	.	15.1374	0.72579	0.0:0.0:0.0:1.0	.	62;62;62	Q96NI0;Q96N67-2;Q96N67-5	.;.;.	V	62	ENSP00000251157:D62V;ENSP00000340742:D62V;ENSP00000384446:D62V	ENSP00000251157:D62V	D	-	2	0	DOCK7	62892378	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.460000	0.80816	2.162000	0.67917	0.533000	0.62120	GAT		0.403	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		A	63119790	T	A	63119790	3	1	261	1	0	0	0	0	1	0	0	0	4692	1435	50	5	6332	5	DOCK7	1	63119790	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	7667885	63119790	186130831	7	14474											
C1orf173	127254	genome.wustl.edu	37	1	75114977	75114977	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:75114977G>A	ENST00000326665.5	-	2	264	c.46C>T	c.(46-48)Ctt>Ttt	p.L16F		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		16										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTATCCATAAGGCTATTATAT	0.363																																																0			1											95	95	95					1																	75114977		2203	4300	6503	74887565	SO:0001583	missense	127254																														ENST00000326665.5:c.46C>T	1.37:g.75114977G>A	ENSP00000322609:p.Leu16Phe		74887565	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464841	0.63513	.	.	ENSG00000178965	ENST00000326665	T	0.46063	0.88	5.57	5.57	0.84162	.	.	.	.	.	T	0.58736	0.2143	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61642	-0.7021	9	0.87932	D	0	-12.0121	18.3037	0.90172	0.0:0.0:1.0:0.0	.	16	Q5RHP9	CA173_HUMAN	F	16	ENSP00000322609:L16F	ENSP00000322609:L16F	L	-	1	0	C1orf173	74887565	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	6.639000	0.74314	2.622000	0.88805	0.591000	0.81541	CTT		0.363	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			A	75114977	G	A	75114977	3	1	261	1	0	0	0	0	1	0	0	0	2014	1000	35	2	4598	2	C1orf173	1	75114977	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	11995187	75114977	174135644	8	14475											
IFI44L	10964	genome.wustl.edu	37	1	79093736	79093736	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:79093736C>T	ENST00000370751.5	+	2	315	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	46					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.R7C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AAGATGCAGCCGTCAGGGATG	0.363																																																1	Substitution - Missense(1)	large_intestine(1)	1											78	79	79					1																	79093736		2203	4300	6503	78866324	SO:0001583	missense	10964			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.136C>T	1.37:g.79093736C>T	ENSP00000359787:p.Arg46Cys		78866324	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	6.305	0.424379	0.11928	.	.	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.32515	1.45;3.07;2.48	3.41	-6.83	0.01693	.	1.843670	0.03430	N	0.207711	T	0.02418	0.0074	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16512	-1.0400	10	0.35671	T	0.21	5.3548	0.8249	0.01118	0.4079:0.2237:0.113:0.2554	.	46	Q53G44	IF44L_HUMAN	C	46;46;23	ENSP00000409914:R46C;ENSP00000359787:R46C;ENSP00000400784:R23C	ENSP00000359787:R46C	R	+	1	0	IFI44L	78866324	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.650000	0.00203	-1.778000	0.01282	-0.718000	0.03613	CGT		0.363	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		T	79093736	C	T	79093736	3	4	261	1	0	0	0	0	1	0	0	0	7518	652	23	1	138	1	IFI44L	1	79093736	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	3978759	79093736	170156885	9	14476											
C1orf146	388649	genome.wustl.edu	37	1	92696994	92696994	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:92696994A>T	ENST00000370375.3	+	2	165	c.17A>T	c.(16-18)aAa>aTa	p.K6I	AL451010.1_ENST00000581900.1_RNA|C1orf146_ENST00000370373.2_De_novo_Start_OutOfFrame|ACTBP12_ENST00000594933.1_RNA	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	6										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GAAAGTGGAAAAGAAAAAATA	0.343																																																0			1											63	66	65					1																	92696994		2203	4300	6503	92469582	SO:0001583	missense	388649				CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.17A>T	1.37:g.92696994A>T	ENSP00000359401:p.Lys6Ile		92469582	Q5VVC4	Missense_Mutation	SNP	ENST00000370375.3	37	CCDS30772.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307041	0.60305	.	.	ENSG00000203910	ENST00000370375	.	.	.	5.0	5.0	0.66597	.	0.461691	0.23208	N	0.050710	T	0.31606	0.0802	N	0.24115	0.695	0.80722	D	1	P	0.39883	0.693	B	0.43018	0.405	T	0.37009	-0.9724	9	0.72032	D	0.01	-0.4082	12.4713	0.55790	1.0:0.0:0.0:0.0	.	6	Q5VVC0	CA146_HUMAN	I	6	.	ENSP00000359401:K6I	K	+	2	0	C1orf146	92469582	1.000000	0.71417	0.866000	0.34008	0.991000	0.79684	2.441000	0.44864	2.229000	0.72834	0.482000	0.46254	AAA		0.343	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		T	92696994	A	T	92696994	3	4	261	1	0	0	0	0	1	0	0	0	2003	14	1	5	19	5	C1orf146	1	92696994	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	13603258	92696994	156553627	10	14477											
CELSR2	1952	genome.wustl.edu	37	1	109805838	109805838	+	Missense_Mutation	SNP	G	G	A	rs200048357		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:109805838G>A	ENST00000271332.3	+	8	4844	c.4783G>A	c.(4783-4785)Gcg>Acg	p.A1595T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1595	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCAGTGGGACGCGTTCAGCTG	0.622																																					NSCLC(158;1285 2011 34800 34852 42084)											0			1											50	47	48					1																	109805838		2203	4300	6503	109607361	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4783G>A	1.37:g.109805838G>A	ENSP00000271332:p.Ala1595Thr		109607361	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	0.136	-1.108302	0.01813	.	.	ENSG00000143126	ENST00000271332	D	0.91843	-2.92	4.74	-3.29	0.05017	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.47097	0.1427	N	0.01096	-1.015	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.56432	-0.7980	9	0.07482	T	0.82	.	5.856	0.18720	0.2893:0.0:0.1414:0.5694	.	1595	Q9HCU4	CELR2_HUMAN	T	1595	ENSP00000271332:A1595T	ENSP00000271332:A1595T	A	+	1	0	CELSR2	109607361	0.001000	0.12720	0.001000	0.08648	0.739000	0.42172	0.189000	0.17037	-0.470000	0.06901	-1.951000	0.00486	GCG		0.622	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109805838	G	A	109805838	3	1	261	1	0	0	0	0	1	0	0	0	3222	1087	38	1	4813	1	CELSR2	1	109805838	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	17108844	109805838	139444783	11	14478											
AMIGO1	57463	genome.wustl.edu	37	1	110050127	110050127	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:110050127C>G	ENST00000369864.4	-	2	1757	c.1408G>C	c.(1408-1410)Ggc>Cgc	p.G470R	AMIGO1_ENST00000369862.1_Missense_Mutation_p.G470R					adhesion molecule with Ig-like domain 1									p.G470S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGGCCCTTGCCTGTGGCCTCA	0.592																																																1	Substitution - Missense(1)	large_intestine(1)	1											123	106	112					1																	110050127		2203	4300	6503	109851650	SO:0001583	missense	57463				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"Immunoglobulin superfamily / V-set domain containing"	20824	protein-coding gene	gene with protein product	"amphoterin-induced gene and open reading frame"	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1408G>C	1.37:g.110050127C>G	ENSP00000358880:p.Gly470Arg		109851650		Missense_Mutation	SNP	ENST00000369864.4	37	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942432	0.34283	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.48836	0.8;0.8	6.17	5.27	0.74061	.	0.171407	0.36444	N	0.002600	T	0.26955	0.0660	L	0.44542	1.39	0.48830	D	0.999718	B	0.16166	0.016	B	0.09377	0.004	T	0.12708	-1.0537	10	0.52906	T	0.07	-8.7529	14.308	0.66397	0.0:0.9285:0.0:0.0715	.	470	Q86WK6	AMGO1_HUMAN	R	470	ENSP00000358880:G470R;ENSP00000358878:G470R	ENSP00000358878:G470R	G	-	1	0	AMIGO1	109851650	0.000000	0.05858	0.589000	0.28718	0.930000	0.56654	0.297000	0.19101	1.631000	0.50456	0.655000	0.94253	GGC		0.592	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		G	110050127	C	G	110050127	3	3	261	1	0	0	0	0	1	0	0	0	575	681	24	3	77	3	AMIGO1	1	110050127	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	244289	110050127	139200494	12	14479											
ADAM30	11085	genome.wustl.edu	37	1	120438485	120438485	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:120438485C>T	ENST00000369400.1	-	1	633	c.475G>A	c.(475-477)Gtc>Atc	p.V159I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	159					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V159I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGGAGATAGACGACATGTTCA	0.453																																																1	Substitution - Missense(1)	NS(1)	1											87	88	88					1																	120438485		2203	4300	6503	120240008	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.475G>A	1.37:g.120438485C>T	ENSP00000358407:p.Val159Ile		120240008	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565732	0.27915	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.05382	3.45	4.29	-4.63	0.03359	Peptidase M12B, propeptide (1);	0.410760	0.17367	N	0.176826	T	0.00936	0.0031	N	0.25485	0.75	0.09310	N	1	P	0.37176	0.586	B	0.35607	0.206	T	0.44922	-0.9296	10	0.34782	T	0.22	.	0.7489	0.00987	0.3924:0.2571:0.1285:0.2221	.	159	Q9UKF2	ADA30_HUMAN	I	159	ENSP00000358407:V159I	ENSP00000358407:V159I	V	-	1	0	ADAM30	120240008	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.320000	0.08028	-0.745000	0.04772	0.563000	0.77884	GTC		0.453	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		T	120438485	C	T	120438485	3	4	261	1	0	0	0	0	1	0	0	0	248	536	19	1	1901	1	ADAM30	1	120438485	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	10388358	120438485	128812136	13	14480											
S100A11	6282	genome.wustl.edu	37	1	152005226	152005226	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:152005226A>T	ENST00000271638.2	-	3	349	c.230T>A	c.(229-231)tTc>tAc	p.F77Y	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAATTCTGAGAAATCTAGCTG	0.488																																					Colon(152;1751 1834 12462 21158 46902)											0			1											72	69	70					1																	152005226		2203	4300	6503	150271850	SO:0001583	missense	6282			D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"S100 calcium binding proteins", "EF-hand domain containing"	10488	protein-coding gene	gene with protein product		603114	"S100 calcium-binding protein A11 (calgizzarin)", "S100 calcium binding protein A11 (calgizzarin)"			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.230T>A	1.37:g.152005226A>T	ENSP00000271638:p.Phe77Tyr		150271850	Q5VTK0	Missense_Mutation	SNP	ENST00000271638.2	37	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.850522	0.51270	.	.	ENSG00000163191	ENST00000271638	T	0.11604	2.76	4.98	4.98	0.66077	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000008	T	0.24547	0.0595	M	0.83223	2.63	0.47341	D	0.999399	D	0.76494	0.999	D	0.74023	0.982	T	0.03095	-1.1073	10	0.87932	D	0	.	11.3278	0.49458	1.0:0.0:0.0:0.0	.	77	P31949	S10AB_HUMAN	Y	77	ENSP00000271638:F77Y	ENSP00000271638:F77Y	F	-	2	0	S100A11	150271850	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	6.135000	0.71696	1.998000	0.58463	0.402000	0.26972	TTC		0.488	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	NM_005620		T	152005226	A	T	152005226	3	4	261	1	0	0	0	0	1	0	0	0	13776	246	9	5	91	5	S100A11	1	152005226	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	31566741	152005226	97245395	14	14481											
UBAP2L	9898	genome.wustl.edu	37	1	154228196	154228196	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:154228196A>G	ENST00000361546.2	+	17	2164	c.2122A>G	c.(2122-2124)Aca>Gca	p.T708A	UBAP2L_ENST00000343815.6_Missense_Mutation_p.T708A|UBAP2L_ENST00000428931.1_Missense_Mutation_p.T708A|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.T719A			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	708					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCATCATCAACATCTTCTGG	0.453																																																0			1											233	206	215					1																	154228196		2203	4300	6503	152494820	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2122A>G	1.37:g.154228196A>G	ENSP00000355343:p.Thr708Ala		152494820	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.775|8.775	0.926780|0.926780	0.18056|0.18056	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000433615|ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	.|T;T;T;T	.|0.35048	.|1.33;1.33;1.33;1.33	5.58|5.58	4.34|4.34	0.51931|0.51931	.|.	.|0.407124	.|0.24815	.|N	.|0.035368	T|T	0.09992|0.09992	0.0245|0.0245	N|N	0.19112|0.19112	0.55|0.55	0.29082|0.29082	N|N	0.882658|0.882658	.|B;B;B;B;B	.|0.26147	.|0.055;0.143;0.143;0.143;0.088	.|B;B;B;B;B	.|0.24155	.|0.023;0.051;0.051;0.051;0.014	T|T	0.12477|0.12477	-1.0546|-1.0546	5|10	.|0.21014	.|T	.|0.42	-4.8001|-4.8001	12.2677|12.2677	0.54686|0.54686	0.8643:0.0:0.0:0.1357|0.8643:0.0:0.0:0.1357	.|.	.|622;719;701;708;708	.|B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.|.;.;.;.;UBP2L_HUMAN	S|A	38|708;708;204;204;719;708	.|ENSP00000345308:T708A;ENSP00000389445:T708A;ENSP00000271877:T719A;ENSP00000355343:T708A	.|ENSP00000271877:T719A	N|T	+|+	2|1	0|0	UBAP2L|UBAP2L	152494820|152494820	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.269000|2.269000	0.43346|0.43346	2.122000|2.122000	0.65172|0.65172	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.453	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		G	154228196	A	G	154228196	3	3	261	1	0	0	0	0	1	0	0	0	16838	43	2	4	2188	4	UBAP2L	1	154228196	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	2222970	154228196	95022425	15	14482											
FCRLA	84824	genome.wustl.edu	37	1	161681147	161681154	+	Frame_Shift_Del	DEL	TTCTCCAT	TTCTCCAT	-	rs564868949		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TTCTCCAT	TTCTCCAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:161681147_161681154delTTCTCCAT	ENST00000236938.6	+	3	675_682	c.433_440delTTCTCCAT	c.(433-441)ttctccatcfs	p.FSI145fs	FCRLA_ENST00000367959.2_Frame_Shift_Del_p.FSI151fs|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367953.3_Frame_Shift_Del_p.FSI134fs|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Frame_Shift_Del_p.FSI134fs|FCRLA_ENST00000349527.4_Frame_Shift_Del_p.FSI128fs|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367957.2_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	128	Ig-like C2-type 1.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TAACAGGGAATTCTCCATCACCGTGGTA	0.596																																																0			1																																								159947778	SO:0001589	frameshift_variant	84824			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.433_440delTTCTCCAT	1.37:g.161681147_161681154delTTCTCCAT	ENSP00000236938:p.Phe145fs		159947771	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Frame_Shift_Del	DEL	ENST00000236938.6	37	CCDS30926.1																																																																																				0.596	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		-	161681154	TTCTCCAT	-	161681147	7	5	261	1	0	1	0	1	0	0	0	0	5800	1493	52	0	465	0	FCRLA	1	161681147	Frame_Shift_Del	DEL	TTCTCCAT	TCGA-24-1845-01A-01W-0639-09	7452951	161681147	87569474	16	14483											
FMO4	2329	genome.wustl.edu	37	1	171303865	171303865	+	Silent	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:171303865A>G	ENST00000367749.3	+	8	1473	c.1143A>G	c.(1141-1143)acA>acG	p.T381T		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	381					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATCAGGCACAGAGCTCCAAG	0.443																																					Pancreas(24;816 862 7754 7993 32832)											0			1											61	60	61					1																	171303865		2203	4300	6503	169570489	SO:0001819	synonymous_variant	2329			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1143A>G	1.37:g.171303865A>G			169570489	Q53XR0	Silent	SNP	ENST00000367749.3	37	CCDS1295.1																																																																																				0.443	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		G	171303865	A	G	171303865	2	3	261	1	0	0	0	0	0	0	0	1	5957	175	7	4		4	FMO4	1	171303865	Silent	SNP	A	TCGA-24-1845-01A-01W-0639-09	9622718	171303865	77946756	17	14484											
DHX9	1660	genome.wustl.edu	37	1	182852300	182852300	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:182852300A>G	ENST00000367549.3	+	25	3051	c.2941A>G	c.(2941-2943)Aac>Gac	p.N981D	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	981					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGTGTTTACTAACACTGGACC	0.378																																					Colon(69;210 1162 3697 13559 39565)											0			1											153	130	138					1																	182852300		1877	4112	5989	181118923	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2941A>G	1.37:g.182852300A>G	ENSP00000356520:p.Asn981Asp		181118923	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457630	0.63401	.	.	ENSG00000135829	ENST00000367549	T	0.03982	3.74	5.2	5.2	0.72013	Domain of unknown function DUF1605 (1);	0.053759	0.64402	D	0.000001	T	0.07954	0.0199	L	0.59436	1.845	0.48288	D	0.999622	B;P	0.41188	0.27;0.741	B;B	0.38755	0.281;0.216	T	0.12760	-1.0535	10	0.46703	T	0.11	.	15.0638	0.71977	1.0:0.0:0.0:0.0	.	260;981	B3KU66;Q08211	.;DHX9_HUMAN	D	981	ENSP00000356520:N981D	ENSP00000356520:N981D	N	+	1	0	DHX9	181118923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.905000	0.75714	1.944000	0.56390	0.460000	0.39030	AAC		0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		G	182852300	A	G	182852300	3	3	261	1	0	0	0	0	1	0	0	0	4516	362	13	4	3035	4	DHX9	1	182852300	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	11548435	182852300	66398321	18	14485											
NUP133	55746	genome.wustl.edu	37	1	229594042	229594042	+	Splice_Site	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:229594042G>T	ENST00000261396.3	-	21	2937	c.2846C>A	c.(2845-2847)gCt>gAt	p.A949D	NUP133_ENST00000537506.1_Splice_Site_p.A933D	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	949					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTTGCATGAGCCTACAATAA	0.398																																																0			1											81	75	77					1																	229594042		2203	4300	6503	227660665	SO:0001630	splice_region_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2845-1C>A	1.37:g.229594042G>T			227660665	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962560	0.92791	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.69040	-0.37;0.6;-0.35	5.68	5.68	0.88126	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85845	0.1400	10	0.87932	D	0	-18.3772	19.7864	0.96440	0.0:0.0:1.0:0.0	.	949	Q8WUM0	NU133_HUMAN	D	878;949;878;933	ENSP00000261396:A949D;ENSP00000355640:A878D;ENSP00000443496:A933D	ENSP00000261396:A949D	A	-	2	0	NUP133	227660665	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.136000	0.94489	2.675000	0.91044	0.467000	0.42956	GCT		0.398	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	Missense_Mutation	T	229594042	G	T	229594042	5	4	261	1	0	0	0	0	0	0	1	0	10754	985	34	3	648	3	NUP133	1	229594042	Splice_Site	SNP	G	TCGA-24-1845-01A-01W-0639-09	46741742	229594042	19656579	19	14486											
TTC13	79573	genome.wustl.edu	37	1	231042667	231042667	+	Missense_Mutation	SNP	C	C	G	rs371809409		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr1:231042667C>G	ENST00000366661.4	-	23	2574	c.2567G>C	c.(2566-2568)tGt>tCt	p.C856S	TTC13_ENST00000366662.4_Missense_Mutation_p.C802S|TTC13_ENST00000414259.1_Missense_Mutation_p.C803S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	856										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTTCTTAAGACAACGTGGAGA	0.353																																																0			1											88	87	87					1																	231042667		2203	4300	6503	229109290	SO:0001583	missense	79573				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2567G>C	1.37:g.231042667C>G	ENSP00000355621:p.Cys856Ser		229109290	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819468	0.90873	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.69306	-0.39;-0.01;-0.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	L	0.44542	1.39	0.80722	D	1	D;D;D	0.76494	0.993;0.996;0.999	D;D;D	0.80764	0.977;0.99;0.994	T	0.79356	-0.1837	10	0.87932	D	0	-15.3395	19.5831	0.95478	0.0:1.0:0.0:0.0	.	803;802;856	E9PGV4;Q8NBP0-2;Q8NBP0	.;.;TTC13_HUMAN	S	856;802;803	ENSP00000355621:C856S;ENSP00000355622:C802S;ENSP00000416631:C803S	ENSP00000355621:C856S	C	-	2	0	TTC13	229109290	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	7.002000	0.76304	2.641000	0.89580	0.563000	0.77884	TGT		0.353	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		G	231042667	C	G	231042667	3	3	261	1	0	0	0	0	1	0	0	0	16680	478	17	3	19	3	TTC13	1	231042667	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	1448625	231042667	18207954	20	14487											
MYT1L	23040	genome.wustl.edu	37	2	1906974	1906974	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:1906974T>C	ENST00000399161.2	-	14	2657	c.1910A>G	c.(1909-1911)gAg>gGg	p.E637G	MYT1L_ENST00000428368.2_Missense_Mutation_p.E635G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	637					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTCTCGAGCTCCTTGGCCAG	0.488																																																0			2											119	111	113					2																	1906974		1949	4151	6100	1885981	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1910A>G	2.37:g.1906974T>C	ENSP00000382114:p.Glu637Gly		1885981	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	T	31	5.085723	0.94100	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.59772	0.24;0.24	5.51	5.51	0.81932	Myelin transcription factor 1 (1);	0.044587	0.85682	D	0.000000	T	0.77890	0.4198	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80652	-0.1287	10	0.54805	T	0.06	-38.69	15.6256	0.76855	0.0:0.0:0.0:1.0	.	637;635	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	G	637;583;635	ENSP00000382114:E637G;ENSP00000396103:E635G	ENSP00000295067:E583G	E	-	2	0	MYT1L	1885981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.975000	0.88055	2.101000	0.63845	0.459000	0.35465	GAG		0.488	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		C	1906974	T	C	1906974	3	2	261	1	0	0	0	0	1	0	0	0	10107	1551	54	4	1698	4	MYT1L	2	1906974	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09		1906974	241292399	21	14488											
MYT1L	23040	genome.wustl.edu	37	2	1926514	1926514	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:1926514C>T	ENST00000399161.2	-	10	1774	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E343K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	343					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGTTGGTCTCACTGAGCTTC	0.557																																																0			2											58	63	61					2																	1926514		2135	4235	6370	1905521	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1027G>A	2.37:g.1926514C>T	ENSP00000382114:p.Glu343Lys		1905521	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	25.8	4.675804	0.88445	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.50001	0.76;0.76	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	L	0.29908	0.895	0.80722	D	1	D;P	0.63880	0.993;0.908	D;B	0.70935	0.971;0.337	T	0.61884	-0.6971	10	0.72032	D	0.01	-43.5831	19.9447	0.97177	0.0:1.0:0.0:0.0	.	343;343	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	K	343;291;343	ENSP00000382114:E343K;ENSP00000396103:E343K	ENSP00000295067:E291K	E	-	1	0	MYT1L	1905521	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.685000	0.84117	2.719000	0.93026	0.655000	0.94253	GAG		0.557	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1926514	C	T	1926514	3	4	261	1	0	0	0	0	1	0	0	0	10107	835	29	2	2591	2	MYT1L	2	1926514	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	19540	1926514	241272859	22	14489											
UGGT1	56886	genome.wustl.edu	37	2	128900716	128900716	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:128900716G>A	ENST00000259253.6	+	17	1815	c.1768G>A	c.(1768-1770)Gtc>Atc	p.V590I	UGGT1_ENST00000375990.3_Missense_Mutation_p.V566I	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	590					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGAACATGTGGTCAGTGTCCT	0.348																																																0			2											168	161	163					2																	128900716		2203	4300	6503	128617186	SO:0001583	missense	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1768G>A	2.37:g.128900716G>A	ENSP00000259253:p.Val590Ile		128617186	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303487	0.40795	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.37915	1.17;1.17	5.23	4.33	0.51752	.	0.175577	0.49916	D	0.000123	T	0.28699	0.0711	L	0.45228	1.405	0.54753	D	0.999989	B;B	0.13594	0.008;0.005	B;B	0.13407	0.009;0.007	T	0.05903	-1.0857	10	0.32370	T	0.25	.	9.909	0.41394	0.1531:0.0:0.8469:0.0	.	566;590	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	I	566;590	ENSP00000365158:V566I;ENSP00000259253:V590I	ENSP00000259253:V590I	V	+	1	0	UGGT1	128617186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.585000	0.60977	2.608000	0.88229	0.650000	0.86243	GTC		0.348	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128900716	G	A	128900716	3	1	261	1	0	0	0	0	1	0	0	0	16941	1261	44	2	1834	2	UGGT1	2	128900716	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	126974202	128900716	114298657	23	14490											
PDE11A	50940	genome.wustl.edu	37	2	178684975	178684975	+	Silent	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:178684975A>G	ENST00000286063.6	-	7	1865	c.1548T>C	c.(1546-1548)ccT>ccC	p.P516P	PDE11A_ENST00000358450.4_Silent_p.P266P|PDE11A_ENST00000389683.3_Silent_p.P72P|PDE11A_ENST00000449286.2_Silent_p.P158P|PDE11A_ENST00000409504.1_Silent_p.P158P|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	516	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TATTCCAAATAGGGACACAAA	0.299									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							0			2											74	79	77					2																	178684975		2203	4300	6503	178393221	SO:0001819	synonymous_variant	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1548T>C	2.37:g.178684975A>G			178393221	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258133	0.23051	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.75	1.94	0.25998	.	.	.	.	.	T	0.54415	0.1857	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	4	.	.	.	.	6.8813	0.24174	0.7445:0.1305:0.125:0.0	.	.	.	.	P	155	.	.	L	-	2	0	PDE11A	178393221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.951000	0.40333	0.091000	0.17302	0.533000	0.62120	CTA		0.299	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			G	178684975	A	G	178684975	2	3	261	1	0	0	0	0	0	0	0	1	11631	407	15	4		4	PDE11A	2	178684975	Silent	SNP	A	TCGA-24-1845-01A-01W-0639-09	49784259	178684975	64514398	24	14491											
OBSL1	23363	genome.wustl.edu	37	2	220432567	220432567	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:220432567C>T	ENST00000404537.1	-	3	1463	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	OBSL1_ENST00000289656.3_Silent_p.P56P|OBSL1_ENST00000373876.1_Silent_p.P469P|OBSL1_ENST00000603926.1_Silent_p.P469P|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Silent_p.P469P|OBSL1_ENST00000373873.4_Silent_p.P469P	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	469					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGCAGATGACCGGCAGCTCCT	0.632																																																0			2											44	49	47					2																	220432567		2152	4258	6410	220140811	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1407G>A	2.37:g.220432567C>T			220140811	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																				0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220432567	C	T	220432567	2	4	261	1	0	0	0	0	0	0	0	1	10813	639	23	1		1	OBSL1	2	220432567	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	41747592	220432567	22766806	25	14492											
SP140	11262	genome.wustl.edu	37	2	231134656	231134656	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr2:231134656T>A	ENST00000392045.3	+	14	1546	c.1432T>A	c.(1432-1434)Tgt>Agt	p.C478S	SP140_ENST00000350136.5_Missense_Mutation_p.C347S|SP140_ENST00000486687.2_Missense_Mutation_p.C402S|SP140_ENST00000343805.6_Missense_Mutation_p.C418S|SP140_ENST00000420434.3_Missense_Mutation_p.C451S|SP140_ENST00000417495.3_Missense_Mutation_p.C364S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	478					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGATCAAGCGTGTGGCACAAT	0.562																																																0			2											83	88	86					2																	231134656		2049	4216	6265	230842900	SO:0001583	missense	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1432T>A	2.37:g.231134656T>A	ENSP00000375899:p.Cys478Ser		230842900	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	T	0.652	-0.809038	0.02819	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.49432	0.91;1.15;0.99;0.78;1.06	3.43	-6.86	0.01676	.	.	.	.	.	T	0.40473	0.1118	N	0.25201	0.72	0.09310	N	1	D;B;D;B	0.53885	0.963;0.003;0.96;0.003	B;B;D;B	0.66351	0.444;0.001;0.943;0.001	T	0.33599	-0.9862	9	0.13853	T	0.58	.	5.3264	0.15908	0.0901:0.3596:0.4157:0.1346	.	451;364;418;478	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	402;347;478;364;418;451	ENSP00000440107:C402S;ENSP00000345846:C347S;ENSP00000375899:C478S;ENSP00000342096:C418S;ENSP00000398210:C451S	ENSP00000342096:C418S	C	+	1	0	SP140	230842900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.624000	0.02038	-3.657000	0.00125	-1.258000	0.01471	TGT		0.562	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		A	231134656	T	A	231134656	3	1	261	1	0	0	0	0	1	0	0	0	14965	1696	59	5	1603	5	SP140	2	231134656	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	10702089	231134656	12064717	26	14493											
STT3B	201595	genome.wustl.edu	37	3	31658422	31658445	+	Splice_Site	DEL	TGTCTTTGCATTGCTGCAAGCTTA	TGTCTTTGCATTGCTGCAAGCTTA	-			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TGTCTTTGCATTGCTGCAAGCTTA	TGTCTTTGCATTGCTGCAAGCTTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:31658422_31658445delTGTCTTTGCATTGCTGCAAGCTTA	ENST00000295770.2	+	7	1187_1210	c.978_1001delTGTCTTTGCATTGCTGCAAGCTTA	c.(976-1002)ggtgtctttgcattgctgcaagcttat>ggt	p.VFALLQAY327del	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	327					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTAATTAGGTGTCTTTGCATTGCTGCAAGCTTATGCTTTCTTG	0.388																																																0			3																																								31633449	SO:0001630	splice_region_variant	201595			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.977-1TGTCTTTGCATTGCTGCAAGCTTA>-	3.37:g.31658422_31658445delTGTCTTTGCATTGCTGCAAGCTTA			31633426	Q96JZ4|Q96KY7	In_Frame_Del	DEL	ENST00000295770.2	37	CCDS2650.1																																																																																				0.388	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862	In_Frame_Del	-	31658445	TGTCTTTGCATTGCTGCAAGCTTA	-	31658422	8	5	261	1	0	1	0	1	0	0	1	0	15336	1710	59	0	1004	0	STT3B	3	31658422	Splice_Site	DEL	TGTCTTTGCATTGCTGCAAGCTTA	TCGA-24-1845-01A-01W-0639-09		31658422	166364008	27	14494											
C3orf1	51300	genome.wustl.edu	37	3	119219586	119219586	+	Missense_Mutation	SNP	C	C	T	rs113067251		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:119219586C>T	ENST00000494664.1	+	2	441	c.239C>T	c.(238-240)aCg>aTg	p.T80M	TIMMDC1_ENST00000493694.1_Intron|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	80						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ATCTGTAAGACGGCAGCTACA	0.408																																																0			3											136	137	137					3																	119219586		2203	4300	6503	120702276	SO:0001583	missense	51300			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.239C>T	3.37:g.119219586C>T	ENSP00000418803:p.Thr80Met		120702276	D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	C	4.273	0.049782	0.08243	.	.	ENSG00000113845	ENST00000494664	T	0.31769	1.48	6.06	5.18	0.71444	.	0.418221	0.27966	N	0.017122	T	0.16599	0.0399	N	0.03608	-0.345	0.21147	N	0.999774	B	0.14012	0.009	B	0.11329	0.006	T	0.16837	-1.0389	10	0.48119	T	0.1	-4.2952	14.4246	0.67207	0.0:0.9239:0.0:0.0761	.	80	Q9NPL8	TIDC1_HUMAN	M	80	ENSP00000418803:T80M	ENSP00000264244:T80M	T	+	2	0	TIMMDC1	120702276	0.828000	0.29307	0.014000	0.15608	0.000000	0.00434	2.095000	0.41729	0.910000	0.36722	-0.797000	0.03246	ACG		0.408	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		T	119219586	C	T	119219586	3	4	261	1	0	0	0	0	1	0	0	0	2206	536	19	1	245	1	C3orf1	3	119219586	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	87561164	119219586	78802844	28	14495											
LRRC58	116064	genome.wustl.edu	37	3	120054737	120054737	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:120054737C>T	ENST00000295628.3	-	2	659	c.564G>A	c.(562-564)ctG>ctA	p.L188L		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	188										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TCAGAGAAGGCAGATTTCCTA	0.328																																																0			3											119	112	114					3																	120054737		1812	4078	5890	121537427	SO:0001819	synonymous_variant	116064			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.564G>A	3.37:g.120054737C>T			121537427		Silent	SNP	ENST00000295628.3	37	CCDS46892.1																																																																																				0.328	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		T	120054737	C	T	120054737	2	4	261	1	0	0	0	0	0	0	0	1	9014	697	25	2		2	LRRC58	3	120054737	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	835151	120054737	77967693	29	14496											
HEG1	57493	genome.wustl.edu	37	3	124720726	124720726	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:124720726G>T	ENST00000311127.4	-	11	3554	c.3487C>A	c.(3487-3489)Ctc>Atc	p.L1163I		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1163					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GATCCCAAGAGCTGGCAGACC	0.512																																																0			3											53	50	51					3																	124720726		1935	4127	6062	126203416	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3487C>A	3.37:g.124720726G>T	ENSP00000311502:p.Leu1163Ile		126203416	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	2.536	-0.307481	0.05458	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;D	0.97455	-2.47;-4.39	5.65	1.71	0.24356	.	0.445392	0.16117	U	0.228837	D	0.90518	0.7029	N	0.12182	0.205	0.27297	N	0.957696	B	0.18310	0.027	B	0.20184	0.028	T	0.82866	-0.0245	10	0.30854	T	0.27	.	6.4305	0.21794	0.4596:0.0:0.5404:0.0	.	1163	Q9ULI3	HEG1_HUMAN	I	1163;47	ENSP00000311502:L1163I;ENSP00000417648:L47I	ENSP00000311502:L1163I	L	-	1	0	HEG1	126203416	1.000000	0.71417	0.996000	0.52242	0.354000	0.29330	2.146000	0.42216	0.502000	0.28037	-0.794000	0.03295	CTC		0.512	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		T	124720726	G	T	124720726	3	4	261	1	0	0	0	0	1	0	0	0	7044	971	34	3	686	3	HEG1	3	124720726	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	4665989	124720726	73301704	30	14497											
ALDH1L1	10840	genome.wustl.edu	37	3	125824644	125824644	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:125824644C>A	ENST00000393434.2	-	22	2927	c.2578G>T	c.(2578-2580)Gtc>Ttc	p.V860F	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V759F|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V870F|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V860F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	860	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TACGTGTTGACAAACACAGTG	0.537																																																0			3											218	202	207					3																	125824644		2203	4300	6503	127307334	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2578G>T	3.37:g.125824644C>A	ENSP00000377083:p.Val860Phe		127307334	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166278	0.57476	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.43	-0.201	0.13212	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.244994	0.33199	N	0.005167	D	0.91429	0.7295	H	0.97896	4.1	0.80722	D	1	D;D;P	0.76494	0.98;0.999;0.911	P;D;P	0.79108	0.876;0.992;0.776	D	0.88680	0.3201	10	0.87932	D	0	.	7.5	0.27511	0.0:0.4188:0.0:0.5812	.	759;395;860	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	F	870;860;759;860	ENSP00000273450:V870F;ENSP00000420293:V860F;ENSP00000395881:V759F;ENSP00000377083:V860F	ENSP00000273450:V870F	V	-	1	0	ALDH1L1	127307334	0.209000	0.23505	0.783000	0.31826	0.767000	0.43475	0.287000	0.18920	-0.111000	0.12001	-0.229000	0.12294	GTC		0.537	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		A	125824644	C	A	125824644	3	1	261	1	0	0	0	0	1	0	0	0	494	478	17	3	138	3	ALDH1L1	3	125824644	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	1103918	125824644	72197786	31	14498											
COL6A6	131873	genome.wustl.edu	37	3	130340669	130340669	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:130340669C>A	ENST00000358511.6	+	23	4851	c.4820C>A	c.(4819-4821)cCt>cAt	p.P1607H	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1607H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1607	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTTCAGGGGCCTCCAGGACCC	0.443																																																0			3											79	78	79					3																	130340669		1820	4071	5891	131823359	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4820C>A	3.37:g.130340669C>A	ENSP00000351310:p.Pro1607His		131823359	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662014	0.47572	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.96967	-4.19;-4.19	5.66	4.77	0.60923	.	.	.	.	.	D	0.97895	0.9308	M	0.89785	3.06	0.28466	N	0.915661	D	0.67145	0.996	D	0.64321	0.924	D	0.94231	0.7476	9	0.46703	T	0.11	.	9.3974	0.38410	0.0:0.8986:0.0:0.1014	.	1607	A6NMZ7	CO6A6_HUMAN	H	1607	ENSP00000351310:P1607H;ENSP00000399236:P1607H	ENSP00000351310:P1607H	P	+	2	0	COL6A6	131823359	0.949000	0.32298	0.999000	0.59377	0.847000	0.48162	0.938000	0.28965	1.342000	0.45619	0.655000	0.94253	CCT		0.443	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130340669	C	A	130340669	3	1	261	1	0	0	0	0	1	0	0	0	3703	681	24	3	4910	3	COL6A6	3	130340669	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	4516025	130340669	67681761	32	14499											
MSL2	55167	genome.wustl.edu	37	3	135870373	135870373	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr3:135870373C>G	ENST00000309993.2	-	2	2082	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N	MSL2_ENST00000434835.2_Missense_Mutation_p.K376N	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	450	Lys-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGTACACAGTCTTGGTAGGAC	0.423																																																0			3											85	89	87					3																	135870373		2203	4300	6503	137353063	SO:0001583	missense	55167			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1350G>C	3.37:g.135870373C>G	ENSP00000311827:p.Lys450Asn		137353063	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383148	0.42207	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.86	5.86	0.93980	.	0.047807	0.85682	D	0.000000	T	0.70081	0.3183	M	0.67953	2.075	0.49915	D	0.999836	D	0.76494	0.999	D	0.69479	0.964	T	0.72023	-0.4415	9	0.62326	D	0.03	-6.9403	8.6104	0.33800	0.0:0.839:0.0:0.161	.	450	Q9HCI7	MSL2_HUMAN	N	450;376	.	ENSP00000311827:K450N	K	-	3	2	MSL2	137353063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.475000	0.60210	2.771000	0.95319	0.563000	0.77884	AAG		0.423	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		G	135870373	C	G	135870373	3	3	261	1	0	0	0	0	1	0	0	0	9878	912	32	3	387	3	MSL2	3	135870373	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	5529704	135870373	62152057	33	14500											
FIP1L1	81608	genome.wustl.edu	37	4	54256744	54256744	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:54256744C>G	ENST00000337488.6	+	7	648	c.454C>G	c.(454-456)Ctc>Gtc	p.L152V	FIP1L1_ENST00000507922.1_Missense_Mutation_p.L137V|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L137V|FIP1L1_ENST00000507166.1_Missense_Mutation_p.L152V|FIP1L1_ENST00000358575.5_Missense_Mutation_p.L137V	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	152	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGAGTTCCACTCTTAGAGGT	0.343			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0			4											117	117	117					4																	54256744		2203	4300	6503	53951501	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.454C>G	4.37:g.54256744C>G	ENSP00000336752:p.Leu152Val		53951501	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838769	0.32513	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.77358	-1.09	5.43	4.58	0.56647	.	0.000000	0.64402	D	0.000016	T	0.74959	0.3785	N	0.11313	0.125	0.51012	D	0.999908	B;D;B;P	0.56035	0.137;0.974;0.022;0.504	B;D;B;B	0.70487	0.135;0.969;0.082;0.116	T	0.72004	-0.4421	10	0.20046	T	0.44	-8.3365	14.5554	0.68097	0.0:0.9278:0.0:0.0722	.	137;137;152;137	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	V	152;137;137;137;152	ENSP00000423325:L152V	ENSP00000302993:L137V	L	+	1	0	FIP1L1	53951501	1.000000	0.71417	0.987000	0.45799	0.874000	0.50279	3.928000	0.56506	2.534000	0.85438	0.591000	0.81541	CTC		0.343	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		G	54256744	C	G	54256744	3	3	261	1	0	0	0	0	1	0	0	0	5896	565	20	3	480	3	FIP1L1	4	54256744	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09		54256744	136897532	34	14501											
ANTXR2	118429	genome.wustl.edu	37	4	80940058	80940058	+	Silent	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:80940058T>A	ENST00000307333.7	-	11	941	c.939A>T	c.(937-939)acA>acT	p.T313T	ANTXR2_ENST00000403729.2_Silent_p.T313T|ANTXR2_ENST00000404191.1_Silent_p.T236T|ANTXR2_ENST00000346652.6_Intron	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	313					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTACACATTCTGTGGCTGTGA	0.308									Juvenile Hyaline Fibromatosis																																							0			4											65	57	60					4																	80940058		1795	4024	5819	81159082	SO:0001819	synonymous_variant	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.939A>T	4.37:g.80940058T>A			81159082	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Silent	SNP	ENST00000307333.7	37	CCDS47086.1																																																																																				0.308	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		A	80940058	T	A	80940058	2	1	261	1	0	0	0	0	0	0	0	1	712	1567	55	5		5	ANTXR2	4	80940058	Silent	SNP	T	TCGA-24-1845-01A-01W-0639-09	26683314	80940058	110214218	35	14502											
ANTXR2	118429	genome.wustl.edu	37	4	80993643	80993643	+	Silent	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:80993643G>A	ENST00000307333.7	-	1	74	c.72C>T	c.(70-72)ctC>ctT	p.L24L	ANTXR2_ENST00000403729.2_Silent_p.L24L|ANTXR2_ENST00000295465.4_Silent_p.L24L|ANTXR2_ENST00000404191.1_Intron|ANTXR2_ENST00000346652.6_Silent_p.L24L	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	24					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CGGGACCGCTGAGCACCAACA	0.706									Juvenile Hyaline Fibromatosis																																							0			4											13	16	16					4																	80993643		1861	4065	5926	81212667	SO:0001819	synonymous_variant	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.72C>T	4.37:g.80993643G>A			81212667	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Silent	SNP	ENST00000307333.7	37	CCDS47086.1																																																																																				0.706	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		A	80993643	G	A	80993643	2	1	261	1	0	0	0	0	0	0	0	1	712	1277	45	2		2	ANTXR2	4	80993643	Silent	SNP	G	TCGA-24-1845-01A-01W-0639-09	53585	80993643	110160633	36	14503											
PRKG2	5593	genome.wustl.edu	37	4	82031736	82031736	+	Silent	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:82031736C>A	ENST00000395578.1	-	15	1922	c.1806G>T	c.(1804-1806)ggG>ggT	p.G602G	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.G602G|PRKG2_ENST00000418486.2_Silent_p.G573G|PRKG2_ENST00000545647.1_Silent_p.G182G			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	602	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCTGTCCAGACCCTATTTTCT	0.423																																																0			4											120	118	119					4																	82031736		2203	4300	6503	82250760	SO:0001819	synonymous_variant	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1806G>T	4.37:g.82031736C>A			82250760	B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	CCDS3589.1																																																																																				0.423	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		A	82031736	C	A	82031736	2	1	261	1	0	0	0	0	0	0	0	1	12526	494	18	3		3	PRKG2	4	82031736	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	1038093	82031736	109122540	37	14504											
FGA	2243	genome.wustl.edu	37	4	155505609	155505609	+	Silent	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:155505609G>T	ENST00000302053.3	-	6	2346	c.2268C>A	c.(2266-2268)tcC>tcA	p.S756S		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	756	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCATAGGAGGAGACTTGGA	0.512																																					NSCLC(143;340 1922 20892 22370 48145)											0			4											131	127	128					4																	155505609		2203	4300	6503	155725059	SO:0001819	synonymous_variant	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2268C>A	4.37:g.155505609G>T			155725059	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	CCDS3787.1																																																																																				0.512	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		T	155505609	G	T	155505609	2	4	261	1	0	0	0	0	0	0	0	1	5830	987	35	3		3	FGA	4	155505609	Silent	SNP	G	TCGA-24-1845-01A-01W-0639-09	73473873	155505609	35648667	38	14505											
GRIA2	2891	genome.wustl.edu	37	4	158282742	158282742	+	Intron	DEL	A	A	-			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:158282742delA	ENST00000264426.9	+	14	2685				GRIA2_ENST00000296526.7_Frame_Shift_Del_p.K782fs|GRIA2_ENST00000507898.1_Frame_Shift_Del_p.K735fs|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000449365.1_Frame_Shift_Del_p.K735fs|GRIA2_ENST00000393815.2_Frame_Shift_Del_p.K735fs	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CGTCTTAGACAAGCTGAAAAA	0.368																																																0			4											147	134	138					4																	158282742		2203	4300	6503	158502192	SO:0001627	intron_variant	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2406+466A>-	4.37:g.158282742delA			158502192	A8MT92|I6L997|Q96FP6	Frame_Shift_Del	DEL	ENST00000264426.9	37	CCDS43274.1																																																																																				0.368	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			-	158282742	A	-	158282742	6	5	261	0	1	1	0	1	0	0	0	0	6768	131	5	0		0	GRIA2	4	158282742	Intron	DEL	A	TCGA-24-1845-01A-01W-0639-09	2777133	158282742	32871534	39	14506											
SORBS2	8470	genome.wustl.edu	37	4	186544515	186544515	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr4:186544515T>A	ENST00000284776.7	-	13	2565	c.2056A>T	c.(2056-2058)Aga>Tga	p.R686*	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.R590*|SORBS2_ENST00000431808.1_Nonsense_Mutation_p.R686*|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.R786*	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	686					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCTTGCCTTCTGGGCTCCTCG	0.493																																					Esophageal Squamous(153;41 2433 9491 36028)											0			4											129	139	136					4																	186544515		2203	4298	6501	186781509	SO:0001587	stop_gained	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2056A>T	4.37:g.186544515T>A	ENSP00000284776:p.Arg686*		186781509	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Nonsense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	T	34	5.395483	0.96009	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	.	.	.	5.88	-1.64	0.08318	.	0.330479	0.35870	N	0.002931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9215	7.9491	0.30003	0.0:0.1285:0.4867:0.3847	.	.	.	.	X	686;686;590;786	.	ENSP00000284776:R686X	R	-	1	2	SORBS2	186781509	0.001000	0.12720	0.725000	0.30721	0.032000	0.12392	0.305000	0.19254	-0.119000	0.11830	-0.379000	0.06801	AGA		0.493	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		A	186544515	T	A	186544515	4	1	261	1	0	0	0	0	0	1	0	0	14931	1588	55	5	1282	5	SORBS2	4	186544515	Nonsense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	28261773	186544515	4609761	40	14507											
MGC42105	167359	genome.wustl.edu	37	5	43280367	43280367	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr5:43280367A>T	ENST00000512796.1	+	4	2346	c.847A>T	c.(847-849)Atc>Ttc	p.I283F	NIM1_ENST00000326035.2_Missense_Mutation_p.I283F			Q8IY84	NIM1_HUMAN		283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										AAAAAAGAGCATCCTCGAGGG	0.552																																																0			5											88	73	78					5																	43280367		2203	4300	6503	43316124	SO:0001583	missense	167359																														ENST00000512796.1:c.847A>T	5.37:g.43280367A>T	ENSP00000420849:p.Ile283Phe		43316124	B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610513	0.66558	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.33654	1.4;1.4	5.73	4.58	0.56647	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	0.66056	0.2751	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72527	-0.4266	10	0.87932	D	0	.	11.598	0.50986	0.9306:0.0:0.0694:0.0	.	283	Q8IY84	NIM1_HUMAN	F	283	ENSP00000313572:I283F;ENSP00000420849:I283F	ENSP00000313572:I283F	I	+	1	0	AC114947.1	43316124	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	7.532000	0.81985	1.020000	0.39573	0.533000	0.62120	ATC		0.552	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			T	43280367	A	T	43280367	3	4	261	1	0	0	0	0	1	0	0	0	9552	217	8	5	857	5	MGC42105	5	43280367	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09		43280367	137634893	41	14508											
SH3PXD2B	285590	genome.wustl.edu	37	5	171766348	171766348	+	Silent	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr5:171766348C>A	ENST00000311601.5	-	13	1931	c.1761G>T	c.(1759-1761)ctG>ctT	p.L587L	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	587					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGCTGGAACAGTCTGCTTT	0.567																																																0			5											66	77	73					5																	171766348		2203	4300	6503	171698953	SO:0001819	synonymous_variant	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1761G>T	5.37:g.171766348C>A			171698953	B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	CCDS34291.1																																																																																				0.567	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		A	171766348	C	A	171766348	2	1	261	1	0	0	0	0	0	0	0	1	14260	465	17	3		3	SH3PXD2B	5	171766348	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	128485981	171766348	9148912	42	14509											
HRH2	3274	genome.wustl.edu	37	5	175110249	175110249	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr5:175110249G>T	ENST00000231683.2	+	1	1786	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	HRH2_ENST00000377291.2_Missense_Mutation_p.G5C	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	5					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGCACCCAATGGCACAGCCTC	0.567																																																0			5											172	162	166					5																	175110249		2203	4300	6503	175042855	SO:0001583	missense	3274				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.13G>T	5.37:g.175110249G>T	ENSP00000231683:p.Gly5Cys		175042855	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780514	0.49891	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.64991	-0.13;-0.1	3.59	1.81	0.25067	.	0.735756	0.11754	N	0.532768	T	0.45597	0.1350	N	0.08118	0	0.24615	N	0.993707	P;D	0.59767	0.698;0.986	B;P	0.49708	0.241;0.62	T	0.31081	-0.9956	10	0.62326	D	0.03	.	5.4068	0.16326	0.3567:0.0:0.6433:0.0	.	5;5	P25021;Q7Z5R9	HRH2_HUMAN;.	C	5	ENSP00000366506:G5C;ENSP00000231683:G5C	ENSP00000231683:G5C	G	+	1	0	HRH2	175042855	0.000000	0.05858	0.053000	0.19242	0.256000	0.26092	-0.426000	0.07008	0.525000	0.28522	0.462000	0.41574	GGC		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			T	175110249	G	T	175110249	3	4	261	1	0	0	0	0	1	0	0	0	7356	1348	47	3	15	3	HRH2	5	175110249	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	3343901	175110249	5805011	43	14510											
GCM2	9247	genome.wustl.edu	37	6	10875050	10875050	+	Silent	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:10875050A>T	ENST00000379491.4	-	5	846	c.699T>A	c.(697-699)ccT>ccA	p.P233P	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	233					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TTGGGAAGGAAGGGCAAGGCT	0.458																																																0			6											132	125	127					6																	10875050		2203	4300	6503	10983036	SO:0001819	synonymous_variant	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.699T>A	6.37:g.10875050A>T			10983036	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	CCDS4517.1																																																																																				0.458	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			T	10875050	A	T	10875050	2	4	261	1	0	0	0	0	0	0	0	1	6298	59	3	5		5	GCM2	6	10875050	Silent	SNP	A	TCGA-24-1845-01A-01W-0639-09		10875050	160240017	44	14511											
SLC17A2	10246	genome.wustl.edu	37	6	25921482	25921482	+	Silent	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:25921482G>T	ENST00000265425.3	-	3	419	c.399C>A	c.(397-399)acC>acA	p.T133T	SLC17A2_ENST00000377850.3_Silent_p.T133T|SLC17A2_ENST00000360488.3_Silent_p.T133T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	133					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTGTAAAGAGGGTGAGAAGGG	0.463																																																0			6											143	127	133					6																	25921482		2203	4300	6503	26029461	SO:0001819	synonymous_variant	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.399C>A	6.37:g.25921482G>T			26029461	A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	ENST00000265425.3	37																																																																																					0.463	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			T	25921482	G	T	25921482	2	4	261	1	0	0	0	0	0	0	0	1	14420	1219	43	3		3	SLC17A2	6	25921482	Silent	SNP	G	TCGA-24-1845-01A-01W-0639-09	15046432	25921482	145193585	45	14512											
OR10C1	442194	genome.wustl.edu	37	6	29407904	29407904	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:29407904G>C	ENST00000444197.2	+	1	822	c.112G>C	c.(112-114)Gtg>Ctg	p.V38L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGCTGACCGTGGCAGGCAA	0.562																																																0			6											179	154	163					6																	29407904		1511	2709	4220	29515883	SO:0001583	missense	442194				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.112G>C	6.37:g.29407904G>C	ENSP00000419119:p.Val38Leu		29515883	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	0.199	-1.046529	0.01997	.	.	ENSG00000206474	ENST00000444197	T	0.00640	6.03	3.64	1.71	0.24356	.	0.000000	0.31438	U	0.007657	T	0.00109	0.0003	N	0.03238	-0.38	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.31779	-0.9931	10	0.02654	T	1	.	6.3942	0.21603	0.0:0.2969:0.3786:0.3245	.	38	Q96KK4	O10C1_HUMAN	L	38	ENSP00000419119:V38L	ENSP00000419119:V38L	V	+	1	0	OR10C1	29515883	0.000000	0.05858	0.003000	0.11579	0.972000	0.66771	-2.871000	0.00720	0.284000	0.22305	0.537000	0.68136	GTG		0.562	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			C	29407904	G	C	29407904	3	2	261	1	0	0	0	0	1	0	0	0	10898	1145	40	3	114	3	OR10C1	6	29407904	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	3486422	29407904	141707163	46	14513											
C2	717	genome.wustl.edu	37	6	31905147	31905147	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:31905147A>G	ENST00000299367.5	+	8	1316	c.1040A>G	c.(1039-1041)tAt>tGt	p.Y347C	C2_ENST00000442278.2_Missense_Mutation_p.Y215C|CFB_ENST00000456570.1_Missense_Mutation_p.Y194C|CFB_ENST00000556679.1_Missense_Mutation_p.Y194C|CFB_ENST00000477310.1_Missense_Mutation_p.Y165C|C2_ENST00000469372.1_Missense_Mutation_p.Y101C|C2_ENST00000452323.2_Missense_Mutation_p.Y133C	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	347	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AACAGTGTCTATCTCATGATG	0.468																																																0			6											203	198	200					6																	31905147		1511	2709	4220	32013126	SO:0001583	missense	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1040A>G	6.37:g.31905147A>G	ENSP00000299367:p.Tyr347Cys		32013126	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.79|12.79	2.044373|2.044373	0.36085|0.36085	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000383177|ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	.|D;D;D;D;D;D;D;D	.|0.83914	.|-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.97|4.97	3.77|3.77	0.43336|0.43336	.|von Willebrand factor, type A (3);	.|0.995291	.|0.08133	.|N	.|0.992798	D|D	0.87374|0.87374	0.6161|0.6161	M|M	0.84326|0.84326	2.69|2.69	0.25926|0.25926	N|N	0.983056|0.983056	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.997;0.999;1.0;0.999;0.998;0.998;0.986;0.999	.|D;D;D;D;D;D;D;D	.|0.76071	.|0.923;0.959;0.987;0.975;0.959;0.959;0.987;0.961	T|T	0.73678|0.73678	-0.3907|-0.3907	5|10	.|0.72032	.|D	.|0.01	-5.9105|-5.9105	8.8854|8.8854	0.35400|0.35400	0.8334:0.0:0.0:0.1666|0.8334:0.0:0.0:0.1666	.|.	.|194;318;133;101;215;215;347;134	.|B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681;E9PDZ0	.|.;.;.;.;.;.;CO2_HUMAN;.	V|C	121|101;134;134;133;347;32;215;194;194;165	.|ENSP00000418923:Y101C;ENSP00000417482:Y134C;ENSP00000392322:Y133C;ENSP00000299367:Y347C;ENSP00000395683:Y215C;ENSP00000451848:Y194C;ENSP00000410815:Y194C;ENSP00000418996:Y165C	.|ENSP00000299367:Y347C	I|Y	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32013126|32013126	0.925000|0.925000	0.31364|0.31364	0.216000|0.216000	0.23742|0.23742	0.143000|0.143000	0.21401|0.21401	3.240000|3.240000	0.51368|0.51368	0.886000|0.886000	0.36113|0.36113	0.445000|0.445000	0.29226|0.29226	ATC|TAT		0.468	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			G	31905147	A	G	31905147	3	3	261	1	0	0	0	0	1	0	0	0	2074	449	16	4	1147	4	C2	6	31905147	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	2497243	31905147	139209920	47	14514											
PHF3	23469	genome.wustl.edu	37	6	64394645	64394645	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:64394645C>A	ENST00000262043.3	+	4	1362	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	PHF3_ENST00000509330.1_Missense_Mutation_p.S341Y|PHF3_ENST00000393387.1_Missense_Mutation_p.S341Y			Q92576	PHF3_HUMAN	PHD finger protein 3	341					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GACGCTGGATCTTCTGATATT	0.363																																					GBM(135;136 1820 29512 34071 46235)											0			6											64	66	65					6																	64394645		2203	4300	6503	64452604	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1022C>A	6.37:g.64394645C>A	ENSP00000262043:p.Ser341Tyr		64452604	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.218506	0.01542	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.46819	2.13;1.85;2.18;1.85;0.86;2.18	5.12	4.23	0.50019	.	0.000000	0.37136	N	0.002233	T	0.33352	0.0860	L	0.57536	1.79	0.09310	N	1	P;P	0.50528	0.79;0.936	B;P	0.48141	0.365;0.568	T	0.18745	-1.0327	10	0.72032	D	0.01	-9.6733	8.2791	0.31889	0.3076:0.5651:0.1273:0.0	.	341;341	Q92576;D6R9X2	PHF3_HUMAN;.	Y	155;253;341;294;341;341	ENSP00000424694:S155Y;ENSP00000425227:S253Y;ENSP00000262043:S341Y;ENSP00000424078:S294Y;ENSP00000422841:S341Y;ENSP00000377048:S341Y	ENSP00000262043:S341Y	S	+	2	0	PHF3	64452604	0.021000	0.18746	0.341000	0.25589	0.034000	0.12701	1.368000	0.34216	1.339000	0.45563	0.585000	0.79938	TCT		0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			A	64394645	C	A	64394645	3	1	261	1	0	0	0	0	1	0	0	0	11836	913	32	3	1032	3	PHF3	6	64394645	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	32489498	64394645	106720422	48	14515											
SLC16A10	117247	genome.wustl.edu	37	6	111527918	111527918	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr6:111527918G>T	ENST00000368851.5	+	4	1241	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L	SLC16A10_ENST00000368850.3_Missense_Mutation_p.V42L	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	356					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGTGCCTGGTGTGAAGAAGGT	0.393																																																0			6											187	167	174					6																	111527918		2203	4300	6503	111634611	SO:0001583	missense	117247			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1066G>T	6.37:g.111527918G>T	ENSP00000357844:p.Val356Leu		111634611	B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	37	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951674	0.53186	.	.	ENSG00000112394	ENST00000368851;ENST00000368850	T;T	0.58652	0.32;0.38	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059469	0.64402	D	0.000003	T	0.39384	0.1076	L	0.46885	1.475	0.54753	D	0.999981	B	0.10296	0.003	B	0.16289	0.015	T	0.26326	-1.0106	10	0.29301	T	0.29	.	18.2231	0.89907	0.0:0.0:1.0:0.0	.	356	Q8TF71	MOT10_HUMAN	L	356;42	ENSP00000357844:V356L;ENSP00000357843:V42L	ENSP00000357843:V42L	V	+	1	0	SLC16A10	111634611	1.000000	0.71417	0.995000	0.50966	0.952000	0.60782	4.120000	0.57897	2.389000	0.81357	0.313000	0.20887	GTG		0.393	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			T	111527918	G	T	111527918	3	4	261	1	0	0	0	0	1	0	0	0	14406	1377	48	3	1080	3	SLC16A10	6	111527918	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	47133273	111527918	59587149	49	14516											
AHR	196	genome.wustl.edu	37	7	17349604	17349604	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:17349604A>C	ENST00000242057.4	+	2	753	c.110A>C	c.(109-111)aAg>aCg	p.K37T		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	37	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AATCCTTCCAAGCGGCATAGA	0.363																																																0			7											84	73	77					7																	17349604		2203	4300	6503	17316129	SO:0001583	missense	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.110A>C	7.37:g.17349604A>C	ENSP00000242057:p.Lys37Thr		17316129	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.841816	0.91197	.	.	ENSG00000106546	ENST00000242057	D	0.98649	-5.05	5.45	5.45	0.79879	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98655	1.0681	10	0.87932	D	0	.	15.861	0.79021	1.0:0.0:0.0:0.0	.	37	P35869	AHR_HUMAN	T	37	ENSP00000242057:K37T	ENSP00000242057:K37T	K	+	2	0	AHR	17316129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.284000	0.95882	2.199000	0.70637	0.529000	0.55759	AAG		0.363	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		C	17349604	A	C	17349604	3	2	261	1	0	0	0	0	1	0	0	0	416	72	3	5	116	5	AHR	7	17349604	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09		17349604	141789059	50	14517											
POLD2	5425	genome.wustl.edu	37	7	44154926	44154926	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:44154926T>C	ENST00000406581.2	-	11	1866	c.1217A>G	c.(1216-1218)aAc>aGc	p.N406S	POLD2_ENST00000223361.3_Missense_Mutation_p.N392S|POLD2_ENST00000452185.1_Missense_Mutation_p.N406S	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	406					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCTGGGGGTGTTGCCACAAAA	0.527																																																0			7											83	91	88					7																	44154926		2203	4300	6503	44121451	SO:0001583	missense	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1217A>G	7.37:g.44154926T>C	ENSP00000386105:p.Asn406Ser		44121451	A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664799	0.47572	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.53423	1.64;0.62;1.64	5.95	2.29	0.28610	DNA polymerase alpha/epsilon, subunit B (1);	0.098391	0.64402	N	0.000002	T	0.50973	0.1647	M	0.64630	1.985	0.58432	D	0.999997	P;P	0.36065	0.535;0.518	P;B	0.46049	0.502;0.274	T	0.45848	-0.9233	10	0.52906	T	0.07	-26.0937	8.8186	0.35011	0.0:0.2761:0.0:0.7239	.	406;392	P49005;F8W8R3	DPOD2_HUMAN;.	S	406;392;406	ENSP00000386105:N406S;ENSP00000223361:N392S;ENSP00000395231:N406S	ENSP00000223361:N392S	N	-	2	0	POLD2	44121451	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.208000	0.42797	0.151000	0.19162	-0.274000	0.10170	AAC		0.527	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		C	44154926	T	C	44154926	3	2	261	1	0	0	0	0	1	0	0	0	12191	1725	60	4	200	4	POLD2	7	44154926	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	26805322	44154926	114983737	51	14518											
SAMD9L	219285	genome.wustl.edu	37	7	92762609	92762609	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:92762609C>T	ENST00000318238.4	-	5	3892	c.2676G>A	c.(2674-2676)atG>atA	p.M892I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.M892I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.M892I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	892					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTGCTTTTCATGATCATGA	0.368																																																0			7											72	76	75					7																	92762609		2203	4299	6502	92600545	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2676G>A	7.37:g.92762609C>T	ENSP00000326247:p.Met892Ile		92600545	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558001	0.45590	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.38887	1.11;1.11;1.11	5.2	5.2	0.72013	.	0.105496	0.64402	D	0.000011	T	0.41305	0.1153	L	0.46157	1.445	0.42105	D	0.99135	B	0.23185	0.081	B	0.21151	0.033	T	0.33904	-0.9850	10	0.66056	D	0.02	-3.9442	18.5174	0.90939	0.0:1.0:0.0:0.0	.	892	Q8IVG5	SAM9L_HUMAN	I	892	ENSP00000326247:M892I;ENSP00000405760:M892I;ENSP00000408796:M892I	ENSP00000326247:M892I	M	-	3	0	SAMD9L	92600545	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.520000	0.60524	2.707000	0.92482	0.453000	0.30009	ATG		0.368	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		T	92762609	C	T	92762609	3	4	261	1	0	0	0	0	1	0	0	0	13830	826	29	2	2082	2	SAMD9L	7	92762609	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	48607683	92762609	66376054	52	14519											
TRRAP	8295	genome.wustl.edu	37	7	98534810	98534810	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:98534810G>T	ENST00000359863.4	+	29	4352	c.4143G>T	c.(4141-4143)caG>caT	p.Q1381H	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q1380H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q1381H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1381					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTTCCTCAGTCCAGGGAGA	0.448																																																0			7											169	172	171					7																	98534810		2203	4300	6503	98372746	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4143G>T	7.37:g.98534810G>T	ENSP00000352925:p.Gln1381His		98372746	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.606297|4.606297	0.87157|0.87157	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.66099|.	-0.19;-0.19|.	5.97|5.97	5.08|5.08	0.68730|0.68730	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68970|0.68970	0.3059|0.3059	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;P;D|.	0.58620|.	0.983;0.956;0.962|.	P;P;P|.	0.56865|.	0.808;0.458;0.511|.	T|T	0.65282|0.65282	-0.6206|-0.6206	10|5	0.66056|.	D|.	0.02|.	.|.	15.6041|15.6041	0.76649|0.76649	0.0669:0.0:0.9331:0.0|0.0669:0.0:0.9331:0.0	.|.	1381;1095;1381|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	H|I	1381;1381;1379|1096	ENSP00000352925:Q1381H;ENSP00000347733:Q1381H|.	ENSP00000347733:Q1381H|.	Q|S	+|+	3|2	2|0	TRRAP|TRRAP	98372746|98372746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.582000|4.582000	0.60957|0.60957	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98534810	G	T	98534810	3	4	261	1	0	0	0	0	1	0	0	0	16601	1020	36	3	4253	3	TRRAP	7	98534810	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	5772201	98534810	60603853	53	14520											
PLXNA4	91584	genome.wustl.edu	37	7	131817904	131817904	+	Silent	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:131817904T>A	ENST00000359827.3	-	31	6455	c.5493A>T	c.(5491-5493)gcA>gcT	p.A1831A	PLXNA4_ENST00000321063.4_Silent_p.A1831A			Q9HCM2	PLXA4_HUMAN	plexin A4	1831					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGCCAGGTATGCGTTCATGT	0.502																																																0			7											146	148	147					7																	131817904		2198	4300	6498	131468444	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5493A>T	7.37:g.131817904T>A			131468444	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.502	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131817904	T	A	131817904	2	1	261	1	0	0	0	0	0	0	0	1	12122	1451	51	5		5	PLXNA4	7	131817904	Silent	SNP	T	TCGA-24-1845-01A-01W-0639-09	33283094	131817904	27320759	54	14521											
RHEB	6009	genome.wustl.edu	37	7	151181856	151181856	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr7:151181856T>A	ENST00000262187.5	-	3	571	c.159A>T	c.(157-159)gaA>gaT	p.E53D	RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	53					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GAAGATGATATTCTTGTCCAT	0.363																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)											0			7											101	92	95					7																	151181856		2203	4300	6503	150812789	SO:0001583	missense	6009			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"Ras homolog enriched in brain 2"	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.159A>T	7.37:g.151181856T>A	ENSP00000262187:p.Glu53Asp		150812789	B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416111	0.25552	.	.	ENSG00000106615	ENST00000262187	T	0.77489	-1.1	5.24	-2.62	0.06152	Small GTP-binding protein domain (1);	0.055838	0.64402	D	0.000002	T	0.55737	0.1939	N	0.25789	0.76	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.16247	-1.0409	10	0.18276	T	0.48	.	5.9686	0.19338	0.1258:0.3226:0.0:0.5516	.	53	Q15382	RHEB_HUMAN	D	53	ENSP00000262187:E53D	ENSP00000262187:E53D	E	-	3	2	RHEB	150812789	0.928000	0.31464	0.996000	0.52242	0.998000	0.95712	-0.069000	0.11542	-0.206000	0.10203	0.477000	0.44152	GAA		0.363	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614		A	151181856	T	A	151181856	3	1	261	1	0	0	0	0	1	0	0	0	13331	1490	52	5	419	5	RHEB	7	151181856	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	19363952	151181856	7956807	55	14522											
TRPA1	8989	genome.wustl.edu	37	8	72958748	72958748	+	Splice_Site	SNP	G	G	A	rs541532801		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr8:72958748G>A	ENST00000262209.4	-	17	2268	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	687					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.N687N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGAACTTACGTTGAGGGCTG	0.294													A|||	1	0.000199681	8e-04	0	5008	,	,		14285	0		0	False		,,,				2504	0															2	Substitution - coding silent(2)	lung(1)|breast(1)	8											167	178	174					8																	72958748		2203	4299	6502	73121302	SO:0001630	splice_region_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2061+1C>T	8.37:g.72958748G>A			73121302	A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	Silent	A	72958748	G	A	72958748	5	1	261	1	0	0	0	0	0	0	1	0	16577	1159	40	1	1342	1	TRPA1	8	72958748	Splice_Site	SNP	G	TCGA-24-1845-01A-01W-0639-09		72958748	73405274	56	14523											
DCAF4L2	138009	genome.wustl.edu	37	8	88885117	88885117	+	Silent	SNP	G	G	A	rs141776325	byFrequency	TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr8:88885117G>A	ENST00000319675.3	-	1	1179	c.1083C>T	c.(1081-1083)aaC>aaT	p.N361N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	361								p.N361N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGGGAATGTCGTTCTCCGAGG	0.622													G|||	6	0.00119808	0.0045	0	5008	,	,		16932	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	large_intestine(1)	8						G		13,4393	17.9+/-39.9	0,13,2190	74	81	79		1083	-2.8	0	8	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	DCAF4L2	NM_152418.3		0,13,6490	AA,AG,GG		0.0,0.2951,0.1		361/396	88885117	13,12993	2203	4300	6503	88954233	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1083C>T	8.37:g.88885117G>A			88954233		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																				0.622	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		A	88885117	G	A	88885117	2	1	261	1	0	0	0	0	0	0	0	1	4272	1136	40	1		1	DCAF4L2	8	88885117	Silent	SNP	G	TCGA-24-1845-01A-01W-0639-09	15926369	88885117	57478905	57	14524											
LRP12	29967	genome.wustl.edu	37	8	105509956	105509956	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr8:105509956T>C	ENST00000276654.5	-	5	932	c.824A>G	c.(823-825)tAt>tGt	p.Y275C	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.Y256C	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	275	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAGTCTGGATAATTGGGAGA	0.393																																																0			8											61	64	63					8																	105509956		2203	4300	6503	105579132	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.824A>G	8.37:g.105509956T>C	ENSP00000276654:p.Tyr275Cys		105579132	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761067	0.69763	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.30714	1.52;1.52	5.66	5.66	0.87406	CUB (5);	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.75772	-0.3200	10	0.40728	T	0.16	-27.2806	15.9017	0.79384	0.0:0.0:0.0:1.0	.	256;275	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	C	256;275	ENSP00000399148:Y256C;ENSP00000276654:Y275C	ENSP00000276654:Y275C	Y	-	2	0	LRP12	105579132	1.000000	0.71417	0.975000	0.42487	0.954000	0.61252	7.698000	0.84413	2.153000	0.67306	0.460000	0.39030	TAT		0.393	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		C	105509956	T	C	105509956	3	2	261	1	0	0	0	0	1	0	0	0	8954	1406	49	4	1767	4	LRP12	8	105509956	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	16624839	105509956	40854066	58	14525											
TESK1	7016	genome.wustl.edu	37	9	35606004	35606004	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:35606004A>T	ENST00000336395.5	+	2	493	c.243A>T	c.(241-243)caA>caT	p.Q81H	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCAGGGCAAGTCATGGTGC	0.652																																																0			9											55	50	52					9																	35606004		2203	4300	6503	35596004	SO:0001583	missense	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.243A>T	9.37:g.35606004A>T	ENSP00000338127:p.Gln81His		35596004	Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318104	0.81469	.	.	ENSG00000107140	ENST00000336395	T	0.66638	-0.22	4.46	-0.558	0.11796	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38005	N	0.001844	T	0.56187	0.1968	L	0.38649	1.16	0.48236	D	0.999619	B	0.32968	0.392	B	0.40940	0.344	T	0.49735	-0.8908	10	0.49607	T	0.09	-6.99	8.2936	0.31971	0.5117:0.0:0.4883:0.0	.	81	Q15569	TESK1_HUMAN	H	81	ENSP00000338127:Q81H	ENSP00000338127:Q81H	Q	+	3	2	TESK1	35596004	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	2.601000	0.46249	-0.017000	0.14103	0.523000	0.50628	CAA		0.652	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		T	35606004	A	T	35606004	3	4	261	1	0	0	0	0	1	0	0	0	15767	69	3	5	249	5	TESK1	9	35606004	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09		35606004	105607427	59	14526											
CORO2A	7464	genome.wustl.edu	37	9	100919860	100919860	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:100919860G>A	ENST00000343933.5	-	2	340	c.83C>T	c.(82-84)tCc>tTc	p.S28F	CORO2A_ENST00000375077.4_Missense_Mutation_p.S28F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	28					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GATAGGCACGGAGTCGTAGCA	0.572																																																0			9											126	102	110					9																	100919860		2203	4300	6503	99959681	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.83C>T	9.37:g.100919860G>A	ENSP00000343746:p.Ser28Phe		99959681	Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207835	0.58343	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.72615	-0.67;-0.67	5.81	3.88	0.44766	Domain of unknown function DUF1899 (1);	0.261438	0.44688	D	0.000433	T	0.72787	0.3504	L	0.39898	1.24	0.26940	N	0.96626	D;P	0.58970	0.984;0.586	P;P	0.61132	0.884;0.516	T	0.64373	-0.6423	10	0.87932	D	0	-9.9143	9.6921	0.40134	0.0805:0.3056:0.6139:0.0	.	57;28	Q59EK2;Q92828	.;COR2A_HUMAN	F	28	ENSP00000343746:S28F;ENSP00000364218:S28F	ENSP00000343746:S28F	S	-	2	0	CORO2A	99959681	0.953000	0.32496	0.685000	0.30070	0.589000	0.36550	3.816000	0.55658	2.756000	0.94617	0.650000	0.86243	TCC		0.572	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		A	100919860	G	A	100919860	3	1	261	1	0	0	0	0	1	0	0	0	3756	1174	41	2	1538	2	CORO2A	9	100919860	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	65313856	100919860	40293571	60	14527											
ASTN2	23245	genome.wustl.edu	37	9	119737524	119737524	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:119737524T>G	ENST00000313400.4	-	10	1952	c.1852A>C	c.(1852-1854)Acc>Ccc	p.T618P	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.T614P|ASTN2_ENST00000361209.2_Missense_Mutation_p.T567P			O75129	ASTN2_HUMAN	astrotactin 2	618					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCACATCGGTCTTGCAGCTG	0.542																																																0			9											89	87	88					9																	119737524		2203	4300	6503	118777345	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1852A>C	9.37:g.119737524T>G	ENSP00000314038:p.Thr618Pro		118777345	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	T	17.83	3.486181	0.63962	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.15256	2.6;2.6;2.44;2.64	5.79	5.79	0.91817	.	0.115667	0.56097	D	0.000023	T	0.28499	0.0705	N	0.20986	0.625	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.867	D;D;P	0.87578	0.998;0.991;0.689	T	0.04103	-1.0977	9	.	.	.	-14.9815	16.1282	0.81408	0.0:0.0:0.0:1.0	.	567;618;614	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	P	618;614;341;567	ENSP00000314038:T618P;ENSP00000363108:T614P;ENSP00000363098:T341P;ENSP00000354504:T567P	.	T	-	1	0	ASTN2	118777345	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	8.040000	0.89188	2.209000	0.71365	0.459000	0.35465	ACC		0.542	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		G	119737524	T	G	119737524	3	3	261	1	0	0	0	0	1	0	0	0	1065	1667	58	5	2455	5	ASTN2	9	119737524	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	18817664	119737524	21475907	61	14528											
RC3H2	54542	genome.wustl.edu	37	9	125642404	125642404	+	Splice_Site	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:125642404G>A	ENST00000373670.1	-	6	1561	c.961C>T	c.(961-963)Cta>Tta	p.L321L	RC3H2_ENST00000423239.2_Splice_Site_p.L321L|RC3H2_ENST00000357244.2_Splice_Site_p.L321L|RC3H2_ENST00000335387.5_Splice_Site_p.L321L|RC3H2_ENST00000373665.2_Splice_Site_p.L321L|SNORD90_ENST00000391145.1_RNA			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	321					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGAGACTGTAGCTAACAAACA	0.343																																																0			9											115	107	110					9																	125642404		1846	4086	5932	124682225	SO:0001630	splice_region_variant	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.961-1C>T	9.37:g.125642404G>A			124682225	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	37	CCDS43874.1																																																																																				0.343	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	Silent	A	125642404	G	A	125642404	5	1	261	1	0	0	0	0	0	0	1	0	13170	985	34	2	2752	2	RC3H2	9	125642404	Splice_Site	SNP	G	TCGA-24-1845-01A-01W-0639-09	5904880	125642404	15571027	62	14529											
COL5A1	1289	genome.wustl.edu	37	9	137716473	137716473	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr9:137716473C>G	ENST00000371817.3	+	62	5140	c.4726C>G	c.(4726-4728)Ctg>Gtg	p.L1576V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1576	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CATCCAGCCCCTGCCAATCCA	0.652																																																0			9											37	35	36					9																	137716473		2203	4300	6503	136856294	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4726C>G	9.37:g.137716473C>G	ENSP00000360882:p.Leu1576Val		136856294	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663699	0.47572	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.90261	-2.64	4.21	1.83	0.25207	.	0.000000	0.56097	U	0.000031	D	0.88753	0.6522	M	0.80332	2.49	0.38287	D	0.942584	P	0.51057	0.941	B	0.42738	0.396	D	0.86334	0.1700	10	0.30078	T	0.28	.	8.7107	0.34382	0.0:0.6922:0.0:0.3078	.	1576	P20908	CO5A1_HUMAN	V	1576;113	ENSP00000360882:L1576V	ENSP00000347458:L113V	L	+	1	2	COL5A1	136856294	0.812000	0.29077	0.999000	0.59377	0.988000	0.76386	1.577000	0.36515	0.881000	0.35993	0.442000	0.29010	CTG		0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		G	137716473	C	G	137716473	3	3	261	1	0	0	0	0	1	0	0	0	3696	680	24	3	4972	3	COL5A1	9	137716473	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	12074069	137716473	3496958	63	14530											
PTCHD3	374308	genome.wustl.edu	37	10	27692187	27692187	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:27692187C>T	ENST00000438700.3	-	3	1428	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	437	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAAATGGCACCCCAATGTGCA	0.483																																																0			10											131	125	127					10																	27692187		2203	4300	6503	27732193	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1311G>A	10.37:g.27692187C>T			27732193	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																				0.483	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27692187	C	T	27692187	2	4	261	1	0	0	0	0	0	0	0	1	12737	610	22	2		2	PTCHD3	10	27692187	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09		27692187	107842560	64	14531											
PTCHD3	374308	genome.wustl.edu	37	10	27692273	27692273	+	Silent	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:27692273G>T	ENST00000438700.3	-	3	1342	c.1225C>A	c.(1225-1227)Cga>Aga	p.R409R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	409	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATTTTGTTTCGTATGCAGTCA	0.438																																																0			10											106	98	101					10																	27692273		2203	4300	6503	27732279	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1225C>A	10.37:g.27692273G>T			27732279	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																				0.438	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27692273	G	T	27692273	2	4	261	1	0	0	0	0	0	0	0	1	12737	1153	40	3		3	PTCHD3	10	27692273	Silent	SNP	G	TCGA-24-1845-01A-01W-0639-09	86	27692273	107842474	65	14532											
ANKRD30A	91074	genome.wustl.edu	37	10	37486395	37486395	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:37486395A>C	ENST00000602533.1	+	29	2634	c.2535A>C	c.(2533-2535)caA>caC	p.Q845H	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q845H|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q964H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	901					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAATGAACAAACATTGAGAG	0.323																																																0			10											110	97	101					10																	37486395		1815	4075	5890	37526401	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2535A>C	10.37:g.37486395A>C	ENSP00000473551:p.Gln845His		37526401	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	4.095	0.015647	0.07959	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.08807	3.05;3.05	1.27	-0.102	0.13613	.	.	.	.	.	T	0.07818	0.0196	L	0.27053	0.805	0.09310	N	1	P	0.45531	0.86	P	0.48654	0.585	T	0.26950	-1.0088	9	0.62326	D	0.03	.	3.2425	0.06786	0.7185:0.0:0.2815:0.0	.	901	Q9BXX3	AN30A_HUMAN	H	845;964	ENSP00000354432:Q845H;ENSP00000363792:Q964H	ENSP00000354432:Q845H	Q	+	3	2	ANKRD30A	37526401	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.021000	0.13489	-0.243000	0.09653	-0.537000	0.04273	CAA		0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		C	37486395	A	C	37486395	3	2	261	1	0	0	0	0	1	0	0	0	658	11	1	5	2649	5	ANKRD30A	10	37486395	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	9794122	37486395	98048352	66	14533											
ANK3	288	genome.wustl.edu	37	10	61868621	61868621	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:61868621A>C	ENST00000280772.2	-	27	3331	c.3140T>G	c.(3139-3141)gTa>gGa	p.V1047G	ANK3_ENST00000373827.2_Missense_Mutation_p.V1041G|ANK3_ENST00000503366.1_Missense_Mutation_p.V1048G|ANK3_ENST00000355288.2_Missense_Mutation_p.V181G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1047	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCCATTTCTACCAGCCTACT	0.478																																																0			10											65	71	69					10																	61868621		2203	4300	6503	61538627	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3140T>G	10.37:g.61868621A>C	ENSP00000280772:p.Val1047Gly		61538627	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.464676|4.464676	0.84425|0.84425	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815|ENST00000467420	T;T;T;T;T|.	0.58797|.	0.31;0.31;0.31;0.31;0.31|.	6.04|6.04	6.04|6.04	0.98038|0.98038	ZU5 (3);|.	0.000000|.	0.38058|.	N|.	0.001838|.	T|.	0.58552|.	0.2130|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D;D|.	0.89917|.	0.862;0.999;0.998;0.997;1.0;0.993;0.999|.	P;D;D;D;D;D;D|.	0.74023|.	0.794;0.98;0.91;0.952;0.982;0.935;0.929|.	T|.	0.54289|.	-0.8316|.	10|.	0.87932|.	D|.	0|.	.|.	16.5885|16.5885	0.84745|0.84745	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1048;181;580;1041;1047;282;181|.	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;.;ANK3_HUMAN;.;.|.	G|E	1047;1041;181;181;1048;1027;282;682;682;180;580;172|72	ENSP00000280772:V1047G;ENSP00000362933:V1041G;ENSP00000347436:V181G;ENSP00000425236:V1048G;ENSP00000362921:V172G|.	ENSP00000280772:V1047G|.	V|X	-|-	2|1	0|0	ANK3|ANK3	61538627|61538627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	GTA|TAG		0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61868621	A	C	61868621	3	2	261	1	0	0	0	0	1	0	0	0	622	391	14	5	10374	5	ANK3	10	61868621	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	24382226	61868621	73666126	67	14534											
CTNNA3	29119	genome.wustl.edu	37	10	69281640	69281640	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:69281640T>A	ENST00000433211.2	-	5	713	c.539A>T	c.(538-540)gAg>gTg	p.E180V	CTNNA3_ENST00000545309.1_Missense_Mutation_p.E180V|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E180V	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATTTTCCAGCTCCTTCCCAAG	0.428																																																0			10											112	109	110					10																	69281640		2203	4300	6503	68951646	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.539A>T	10.37:g.69281640T>A	ENSP00000389714:p.Glu180Val		68951646		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937090	0.52972	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.19	5.19	0.71726	.	0.116119	0.37906	N	0.001886	T	0.50718	0.1632	L	0.49778	1.585	0.36878	D	0.889243	P;P;P;B	0.49783	0.834;0.928;0.523;0.438	P;P;B;B	0.49708	0.62;0.62;0.34;0.273	T	0.62534	-0.6834	10	0.87932	D	0	-8.8104	11.4391	0.50086	0.0:0.0:0.0:1.0	.	180;180;180;180	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	V	180	ENSP00000389714:E180V;ENSP00000362849:E180V;ENSP00000441444:E180V;ENSP00000330570:E180V	ENSP00000330570:E180V	E	-	2	0	CTNNA3	68951646	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.719000	0.61937	1.967000	0.57214	0.383000	0.25322	GAG		0.428	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		A	69281640	T	A	69281640	3	1	261	1	0	0	0	0	1	0	0	0	4014	1551	54	5	2204	5	CTNNA3	10	69281640	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	7413019	69281640	66253107	68	14535											
SEC24C	9632	genome.wustl.edu	37	10	75511003	75511003	+	Splice_Site	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:75511003T>A	ENST00000339365.2	+	4	470		c.e4+2		SEC24C_ENST00000345254.4_Splice_Site|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GATGCAAAGGTAGGTACTTGG	0.532																																																0			10											63	50	55					10																	75511003		2203	4300	6503	75181009	SO:0001630	splice_region_variant	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.308+2T>A	10.37:g.75511003T>A			75181009	B4DZT4|Q8WV25	Splice_Site	SNP	ENST00000339365.2	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149942	0.78001	.	.	ENSG00000176986	ENST00000345254;ENST00000339365	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6942	0.77481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24C	75181009	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.574000	0.67424	2.240000	0.73641	0.533000	0.62120	.		0.532	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Intron	A	75511003	T	A	75511003	5	1	261	1	0	0	0	0	0	0	1	0	13999	1652	57	5	316	5	SEC24C	10	75511003	Splice_Site	SNP	T	TCGA-24-1845-01A-01W-0639-09	6229363	75511003	60023744	69	14536											
CHCHD1	118487	genome.wustl.edu	37	10	75541896	75541896	+	Silent	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr10:75541896G>A	ENST00000372833.5	+	1	76	c.63G>A	c.(61-63)ctG>ctA	p.L21L	CHCHD1_ENST00000372837.3_Silent_p.L21L	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	21						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)	1	Prostate(51;0.0112)					AGCCTGTGCTGAAGCCCAATA	0.677																																																0			10											41	50	47					10																	75541896		2203	4299	6502	75211902	SO:0001819	synonymous_variant	118487			AK098720	CCDS7334.1	10q22.3	2014-02-12	2004-01-19		ENSG00000172586	ENSG00000172586		"Coiled-coil-helix-coiled-coil-helix domain containing"	23518	protein-coding gene	gene with protein product		608842	"chromosome 10 open reading frame 34"	C10orf34			Standard	NM_203298		Approved	FLJ25854	uc001jvc.4	Q96BP2	OTTHUMG00000018475	ENST00000372833.5:c.63G>A	10.37:g.75541896G>A			75211902		Silent	SNP	ENST00000372833.5	37	CCDS7334.1																																																																																				0.677	CHCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048676.1	XM_058325		A	75541896	G	A	75541896	2	1	261	1	0	0	0	0	0	0	0	1	3314	1277	45	2		2	CHCHD1	10	75541896	Silent	SNP	G	TCGA-24-1845-01A-01W-0639-09	30893	75541896	59992851	70	14537											
KCNA4	3739	genome.wustl.edu	37	11	30033400	30033400	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:30033400C>A	ENST00000328224.6	-	2	2059	c.826G>T	c.(826-828)Gtg>Ttg	p.V276L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	276					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCTTCTCTCACAAAGCCCTCG	0.512																																																0			11											60	56	57					11																	30033400		1889	4126	6015	29989976	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.826G>T	11.37:g.30033400C>A	ENSP00000328511:p.Val276Leu		29989976		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812518	0.32053	.	.	ENSG00000182255	ENST00000328224	D	0.96685	-4.09	5.05	5.05	0.67936	BTB/POZ-like (1);	0.000000	0.64402	D	0.000001	D	0.92711	0.7683	N	0.20766	0.605	0.58432	D	0.999999	B	0.17465	0.022	B	0.22601	0.04	D	0.88943	0.3381	10	0.37606	T	0.19	.	18.4298	0.90622	0.0:1.0:0.0:0.0	.	276	P22459	KCNA4_HUMAN	L	276	ENSP00000328511:V276L	ENSP00000328511:V276L	V	-	1	0	KCNA4	29989976	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	4.942000	0.63547	2.355000	0.79922	0.655000	0.94253	GTG		0.512	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		A	30033400	C	A	30033400	3	1	261	1	0	0	0	0	1	0	0	0	8005	478	17	3	1139	3	KCNA4	11	30033400	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09		30033400	104973116	71	14538											
TSPAN18	90139	genome.wustl.edu	37	11	44950723	44950742	+	Stop_Codon_Del	DEL	CCAGTAGAGGGTATGGCCTG	CCAGTAGAGGGTATGGCCTG	-	rs369733005|rs140231195		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	CCAGTAGAGGGTATGGCCTG	CCAGTAGAGGGTATGGCCTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:44950723_44950742delCCAGTAGAGGGTATGGCCTG	ENST00000520358.2	+	0	1156_1175				TSPAN18_ENST00000340160.3_Stop_Codon_Del			Q96SJ8	TSN18_HUMAN	tetraspanin 18							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						TCCGGGGCATCCAGTAGAGGGTATGGCCTGAAGCCTGAAG	0.595																																																0			11																																								44907318	SO:0001567	stop_retained_variant	90139			AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"Tetraspanins"	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		Exception_encountered	11.37:g.44950723_44950742delCCAGTAGAGGGTATGGCCTG			44907299	Q6UY44|Q8NBI9	Frame_Shift_Del	DEL	ENST00000520358.2	37	CCDS7910.1																																																																																				0.595	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		-	44950742	CCAGTAGAGGGTATGGCCTG	-	44950723	7	5	261	1	0	1	0	1	0	0	0	0	16642	845	30	0	767	0	TSPAN18	11	44950723	Stop_Codon_Del	DEL	CCAGTAGAGGGTATGGCCTG	TCGA-24-1845-01A-01W-0639-09	14917323	44950723	90055793	72	14539											
SPTBN2	6712	genome.wustl.edu	37	11	66460547	66460547	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:66460547C>A	ENST00000533211.1	-	25	5210	c.4879G>T	c.(4879-4881)Gtg>Ttg	p.V1627L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.V1627L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.V1627L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1627					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTTCTTCACCTCTGCCTGG	0.627																																																0			11											87	80	82					11																	66460547		2200	4295	6495	66217123	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4879G>T	11.37:g.66460547C>A	ENSP00000432568:p.Val1627Leu		66217123	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	9.634	1.137284	0.21123	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.23147	1.92;1.92;1.92	4.52	4.52	0.55395	.	0.070867	0.56097	D	0.000031	T	0.05318	0.0141	N	0.00217	-1.83	0.46874	D	0.999233	B	0.11235	0.004	B	0.10450	0.005	T	0.36625	-0.9740	10	0.02654	T	1	.	12.0996	0.53776	0.0:0.826:0.174:0.0	.	1627	O15020	SPTN2_HUMAN	L	1627	ENSP00000432568:V1627L;ENSP00000311489:V1627L;ENSP00000433593:V1627L	ENSP00000311489:V1627L	V	-	1	0	SPTBN2	66217123	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.389000	0.20751	2.356000	0.79943	0.462000	0.41574	GTG		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		A	66460547	C	A	66460547	3	1	261	1	0	0	0	0	1	0	0	0	15122	507	18	3	2349	3	SPTBN2	11	66460547	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	21509824	66460547	68545969	73	14540											
IGHMBP2	3508	genome.wustl.edu	37	11	68703713	68703713	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:68703713G>A	ENST00000255078.3	+	13	1876	c.1765G>A	c.(1765-1767)Ggt>Agt	p.G589S	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	589					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGGTGAAGTTGGTTTTCTTGC	0.532																																																0			11											119	114	116					11																	68703713		2200	4294	6494	68460289	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1765G>A	11.37:g.68703713G>A	ENSP00000255078:p.Gly589Ser		68460289	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043113	0.93685	.	.	ENSG00000132740	ENST00000255078	D	0.95918	-3.85	4.25	4.25	0.50352	.	0.055907	0.64402	D	0.000001	D	0.97904	0.9311	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98799	1.0739	10	0.87932	D	0	-16.2807	15.926	0.79618	0.0:0.0:1.0:0.0	.	589	P38935	SMBP2_HUMAN	S	589	ENSP00000255078:G589S	ENSP00000255078:G589S	G	+	1	0	IGHMBP2	68460289	1.000000	0.71417	0.712000	0.30502	0.840000	0.47671	8.953000	0.93041	2.360000	0.80028	0.561000	0.74099	GGT		0.532	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		A	68703713	G	A	68703713	3	1	261	1	0	0	0	0	1	0	0	0	7591	1348	47	2	1815	2	IGHMBP2	11	68703713	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	2243166	68703713	66302803	74	14541											
HEPHL1	341208	genome.wustl.edu	37	11	93754565	93754565	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:93754565T>A	ENST00000315765.9	+	1	39	c.31T>A	c.(31-33)Ttt>Att	p.F11I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	11					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGCTGCATCTTTCTCCTCAC	0.537																																																0			11											118	118	118					11																	93754565		1930	4127	6057	93394213	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.31T>A	11.37:g.93754565T>A	ENSP00000313699:p.Phe11Ile		93394213	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634971	0.29068	.	.	ENSG00000181333	ENST00000315765	D	0.99158	-5.5	5.36	0.0968	0.14491	.	1.094880	0.06988	N	0.821127	D	0.94837	0.8332	N	0.08118	0	0.20307	N	0.999912	B	0.02656	0.0	B	0.01281	0.0	D	0.90657	0.4587	10	0.32370	T	0.25	.	5.7802	0.18301	0.0:0.5243:0.2577:0.218	.	11	Q6MZM0	HPHL1_HUMAN	I	11	ENSP00000313699:F11I	ENSP00000313699:F11I	F	+	1	0	HEPHL1	93394213	0.005000	0.15991	0.546000	0.28166	0.682000	0.39822	-0.343000	0.07791	-0.153000	0.11137	-0.468000	0.05107	TTT		0.537	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		A	93754565	T	A	93754565	3	1	261	1	0	0	0	0	1	0	0	0	7055	1609	56	5	33	5	HEPHL1	11	93754565	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	25050852	93754565	41251951	75	14542											
MMP27	64066	genome.wustl.edu	37	11	102567490	102567490	+	Silent	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:102567490G>A	ENST00000260229.4	-	5	787	c.696C>T	c.(694-696)gcC>gcT	p.A232A		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	232					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GGAACATCAAGGCTGTTTGAT	0.418																																																0			11											97	87	90					11																	102567490		2203	4299	6502	102072700	SO:0001819	synonymous_variant	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.696C>T	11.37:g.102567490G>A			102072700	Q6UWK6	Silent	SNP	ENST00000260229.4	37	CCDS8319.1																																																																																				0.418	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102567490	G	A	102567490	2	1	261	1	0	0	0	0	0	0	0	1	9664	987	35	2		2	MMP27	11	102567490	Silent	SNP	G	TCGA-24-1845-01A-01W-0639-09	8812925	102567490	32439026	76	14543											
NCAM1	4684	genome.wustl.edu	37	11	113133635	113133635	+	Silent	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr11:113133635T>C	ENST00000533760.1	+	17	2414	c.1815T>C	c.(1813-1815)ctT>ctC	p.L605L	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGACTCTTCTTTTGCTCTGTT	0.448																																																0			11											137	128	131					11																	113133635		1877	4123	6000	112638845	SO:0001819	synonymous_variant	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1815T>C	11.37:g.113133635T>C			112638845	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37																																																																																					0.448	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		C	113133635	T	C	113133635	2	2	261	1	0	0	0	0	0	0	0	1	10202	1828	64	4		4	NCAM1	11	113133635	Silent	SNP	T	TCGA-24-1845-01A-01W-0639-09	10566145	113133635	21872881	77	14544											
LTBR	4055	genome.wustl.edu	37	12	6494513	6494513	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:6494513A>T	ENST00000228918.4	+	4	766	c.440A>T	c.(439-441)gAc>gTc	p.D147V	LTBR_ENST00000541102.1_Missense_Mutation_p.D40V|LTBR_ENST00000543190.1_Missense_Mutation_p.D40V|LTBR_ENST00000539925.1_Missense_Mutation_p.D128V	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	147					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTACTTTCTGACTGCCCGCCT	0.622																																																0			12											44	46	45					12																	6494513		2203	4300	6503	6364774	SO:0001583	missense	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.440A>T	12.37:g.6494513A>T	ENSP00000228918:p.Asp147Val		6364774	B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.561663	0.27915	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000543190;ENST00000541102	T;T;T;T;T	0.72835	0.2;0.2;0.2;-0.69;0.2	4.79	-0.809	0.10864	TNFR/CD27/30/40/95 cysteine-rich region (1);	1.649630	0.03114	N	0.162930	T	0.50820	0.1638	N	0.24115	0.695	0.20638	N	0.999873	B;B;B	0.26318	0.103;0.063;0.146	B;B;B	0.21917	0.037;0.016;0.024	T	0.20207	-1.0282	9	.	.	.	0.0052	0.4787	0.00544	0.341:0.2296:0.1134:0.316	.	128;128;147	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	V	128;147;40;142;40;40	ENSP00000440875:D128V;ENSP00000228918:D147V;ENSP00000437647:D142V;ENSP00000438955:D40V;ENSP00000438605:D40V	.	D	+	2	0	LTBR	6364774	0.007000	0.16637	0.010000	0.14722	0.579000	0.36224	-0.174000	0.09839	-0.111000	0.12001	0.459000	0.35465	GAC		0.622	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			T	6494513	A	T	6494513	3	4	261	1	0	0	0	0	1	0	0	0	9077	275	10	5	454	5	LTBR	12	6494513	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09		6494513	127357382	78	14545											
DENND5B	160518	genome.wustl.edu	37	12	31540716	31540716	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:31540716G>A	ENST00000389082.5	-	21	3910	c.3646C>T	c.(3646-3648)Cgc>Tgc	p.R1216C	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1251C|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1251C	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1216	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1216C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGAGCAGGCGATCCCTACAG	0.527																																																1	Substitution - Missense(1)	large_intestine(1)	12											74	69	70					12																	31540716		2032	4185	6217	31431983	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3646C>T	12.37:g.31540716G>A	ENSP00000373734:p.Arg1216Cys		31431983	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135511	0.94517	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.32023	1.47;1.47;1.47	5.29	5.29	0.74685	RUN (3);	0.304535	0.31821	N	0.007005	T	0.45216	0.1331	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.69078	0.994;0.997	P;P	0.58820	0.846;0.761	T	0.37641	-0.9697	10	0.87932	D	0	-19.5091	19.1165	0.93343	0.0:0.0:1.0:0.0	.	1216;1251	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	C	1216;1251;1251	ENSP00000373734:R1216C;ENSP00000306482:R1251C;ENSP00000444889:R1251C	ENSP00000306482:R1251C	R	-	1	0	DENND5B	31431983	1.000000	0.71417	0.941000	0.38009	0.992000	0.81027	7.502000	0.81614	2.761000	0.94854	0.655000	0.94253	CGC		0.527	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		A	31540716	G	A	31540716	3	1	261	1	0	0	0	0	1	0	0	0	4437	1058	37	1	182	1	DENND5B	12	31540716	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	25046203	31540716	102311179	79	14546											
PTPRB	5787	genome.wustl.edu	37	12	70986253	70986253	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:70986253C>G	ENST00000261266.5	-	5	964	c.935G>C	c.(934-936)aGa>aCa	p.R312T	PTPRB_ENST00000550358.1_Missense_Mutation_p.R530T|PTPRB_ENST00000334414.6_Missense_Mutation_p.R530T|PTPRB_ENST00000451516.2_Missense_Mutation_p.R312T|PTPRB_ENST00000551525.1_Missense_Mutation_p.R529T|PTPRB_ENST00000538708.1_Missense_Mutation_p.R312T|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.R312T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	312	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCAGGAGGTCTTTGCCATTT	0.423																																																0			12											64	59	61					12																	70986253		1851	4102	5953	69272520	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.935G>C	12.37:g.70986253C>G	ENSP00000261266:p.Arg312Thr		69272520	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841141	0.51057	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.96	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.358864	0.36066	N	0.002810	T	0.55226	0.1907	M	0.62723	1.935	0.19945	N	0.999945	B;B;P;P;P;B;B;P	0.45768	0.249;0.249;0.755;0.866;0.57;0.249;0.293;0.523	B;B;P;P;B;B;B;B	0.51297	0.287;0.287;0.497;0.665;0.363;0.363;0.297;0.268	T	0.45600	-0.9250	10	0.12766	T	0.61	.	9.2659	0.37641	0.0:0.7987:0.0:0.2013	.	312;312;409;530;529;530;312;530	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	T	530;312;530;530;312;312;312;529;409	ENSP00000334928:R530T;ENSP00000393028:R312T;ENSP00000448058:R530T;ENSP00000438927:R312T;ENSP00000447302:R312T;ENSP00000261266:R312T;ENSP00000448349:R529T;ENSP00000446982:R409T	ENSP00000261266:R312T	R	-	2	0	PTPRB	69272520	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.649000	0.24843	1.032000	0.39892	0.655000	0.94253	AGA		0.423	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			G	70986253	C	G	70986253	3	3	261	1	0	0	0	0	1	0	0	0	12799	913	32	3	5170	3	PTPRB	12	70986253	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	39445537	70986253	62865642	80	14547											
CIT	11113	genome.wustl.edu	37	12	120139731	120139731	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:120139731G>C	ENST00000261833.7	-	41	5263	c.5211C>G	c.(5209-5211)atC>atG	p.I1737M	CIT_ENST00000392521.2_Missense_Mutation_p.I1779M|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1737	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGGTGAAGTGGATACAGCTGC	0.498																																																0			12											161	154	156					12																	120139731		2203	4300	6503	118624114	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5211C>G	12.37:g.120139731G>C	ENSP00000261833:p.Ile1737Met		118624114	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.509737|3.509737	0.64522|0.64522	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.05855|.	3.38;3.38|.	5.68|5.68	1.28|1.28	0.21552|0.21552	Citron-like (3);|.	0.061267|.	0.64402|.	D|.	0.000005|.	T|T	0.54791|0.54791	0.1880|0.1880	L|L	0.55743|0.55743	1.74|1.74	0.45477|0.45477	D|D	0.998442|0.998442	D;P;D|.	0.89917|.	1.0;0.582;0.994|.	D;P;D|.	0.91635|.	0.999;0.641;0.923|.	T|T	0.46456|0.46456	-0.9190|-0.9190	10|5	0.87932|.	D|.	0|.	.|.	5.461|5.461	0.16617|0.16617	0.2642:0.0:0.5029:0.233|0.2642:0.0:0.5029:0.233	.|.	1779;1737;1255|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	M|C	1779;1737|1350	ENSP00000376306:I1779M;ENSP00000261833:I1737M|.	ENSP00000261833:I1737M|.	I|S	-|-	3|2	3|0	CIT|CIT	118624114|118624114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.300000|1.300000	0.33436|0.33436	0.332000|0.332000	0.23536|0.23536	0.650000|0.650000	0.86243|0.86243	ATC|TCC		0.498	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		C	120139731	G	C	120139731	3	2	261	1	0	0	0	0	1	0	0	0	3438	1164	41	3	900	3	CIT	12	120139731	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	49153478	120139731	13712164	81	14548											
OASL	8638	genome.wustl.edu	37	12	121458606	121458606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr12:121458606G>A	ENST00000257570.5	-	6	1573	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	435	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGAAGACCTGGATCTCGGAG	0.542																																					Colon(192;517 2041 31392 31913 39966)											0			12											91	88	89					12																	121458606		2203	4300	6503	119942989	SO:0001587	stop_gained	8638			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1303C>T	12.37:g.121458606G>A	ENSP00000257570:p.Gln435*		119942989	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Nonsense_Mutation	SNP	ENST00000257570.5	37	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	G	37	5.979353	0.97168	.	.	ENSG00000135114	ENST00000257570	.	.	.	6.17	6.17	0.99709	.	0.273216	0.26210	N	0.025681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-0.457	16.3795	0.83443	0.0:0.0:1.0:0.0	.	.	.	.	X	435	.	ENSP00000257570:Q435X	Q	-	1	0	OASL	119942989	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	1.918000	0.40006	2.941000	0.99782	0.655000	0.94253	CAG		0.542	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		A	121458606	G	A	121458606	4	1	261	1	0	0	0	0	0	1	0	0	10802	1357	47	2	245	2	OASL	12	121458606	Nonsense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	1318875	121458606	12393289	82	14549											
MPHOSPH8	54737	genome.wustl.edu	37	13	20237171	20237209	+	Splice_Site	DEL	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	-	rs74926233|rs77797474		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr13:20237171_20237209delTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	ENST00000361479.5	+	9	2000_2030	c.1932_1962delTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	c.(1930-1962)aattttcatagaactttttaacaacagtggcta>aa	p.NFHRTF*QQWL644del	MPHOSPH8_ENST00000414242.2_Splice_Site_p.NFHRTF*QQWL644del	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	644					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CCTTTTTTTCTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTGGAAGCAGGAG	0.36																																																0			13																																								19135209	SO:0001630	splice_region_variant	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1933-1TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG>-	13.37:g.20237171_20237209delTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG			19135171	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Splice_Site	DEL	ENST00000361479.5	37	CCDS9287.1																																																																																				0.36	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520	In_Frame_Del	-	20237209	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	-	20237171	8	5	261	1	0	1	0	1	0	0	1	0	9727	1624	56	0		0	MPHOSPH8	13	20237171	Splice_Site	DEL	TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG	TCGA-24-1845-01A-01W-0639-09		20237171	94932707	83	14550											
SGPP1	81537	genome.wustl.edu	37	14	64153098	64153098	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr14:64153098G>A	ENST00000247225.6	-	3	1145	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	351					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CCAGCTAAAGGTAATGTATCT	0.413																																																0			14											87	80	82					14																	64153098		2203	4300	6503	63222851	SO:0001583	missense	81537			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1051C>T	14.37:g.64153098G>A	ENSP00000247225:p.Pro351Ser		63222851	B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759205	0.49468	.	.	ENSG00000126821	ENST00000247225	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75676	-0.3235	9	0.33141	T	0.24	-25.5976	20.4748	0.99174	0.0:0.0:1.0:0.0	.	351	Q9BX95	SGPP1_HUMAN	S	351	.	ENSP00000247225:P351S	P	-	1	0	SGPP1	63222851	1.000000	0.71417	0.971000	0.41717	0.136000	0.21042	9.091000	0.94151	2.843000	0.97960	0.655000	0.94253	CCT		0.413	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		A	64153098	G	A	64153098	3	1	261	1	0	0	0	0	1	0	0	0	14222	1261	44	2	278	2	SGPP1	14	64153098	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09		64153098	43196442	84	14551											
UBR7	55148	genome.wustl.edu	37	14	93681590	93681620	+	Frame_Shift_Del	DEL	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA	-	rs371330936|rs141676205		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr14:93681590_93681620delTTGTTCTTTTTTGTGGGCTTATGCTGCACAA	ENST00000013070.6	+	6	800_830	c.564_594delTTGTTCTTTTTTGTGGGCTTATGCTGCACAA	c.(562-594)cgttgttcttttttgtgggcttatgctgcacaafs	p.RCSFLWAYAAQ188fs	UBR7_ENST00000416753.1_Frame_Shift_Del_p.RCSFLWAYAAQ112fs|RP11-371E8.4_ENST00000557048.1_3'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	188							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GCATGAAACGTTGTTCTTTTTTGTGGGCTTATGCTGCACAATTGGCAGGTA	0.407																																																0			14																																								92751373	SO:0001589	frameshift_variant	55148			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"Ubiquitin protein ligase E3 component n-recognins"	20344	protein-coding gene	gene with protein product		613816	"chromosome 14 open reading frame 130"	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.564_594delTTGTTCTTTTTTGTGGGCTTATGCTGCACAA	14.37:g.93681590_93681620delTTGTTCTTTTTTGTGGGCTTATGCTGCACAA	ENSP00000013070:p.Arg188fs		92751343	Q86U21|Q86UA9|Q96BY0|Q9NVV6	Frame_Shift_Del	DEL	ENST00000013070.6	37	CCDS9909.1																																																																																				0.407	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		-	93681620	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA	-	93681590	7	5	261	1	0	1	0	1	0	0	0	0	16906	1712	60	0	586	0	UBR7	14	93681590	Frame_Shift_Del	DEL	TTGTTCTTTTTTGTGGGCTTATGCTGCACAA	TCGA-24-1845-01A-01W-0639-09	29528492	93681590	13667950	85	14552											
OCA2	4948	genome.wustl.edu	37	15	28260041	28260041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:28260041G>A	ENST00000354638.3	-	9	1080	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	OCA2_ENST00000353809.5_Nonsense_Mutation_p.Q309*|OCA2_ENST00000382996.2_Nonsense_Mutation_p.Q309*	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	309					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGGTCTGCTGCAGGGAGGCC	0.572									Oculocutaneous Albinism																																							0			15											106	80	89					15																	28260041		2203	4300	6503	25933636	SO:0001587	stop_gained	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.925C>T	15.37:g.28260041G>A	ENSP00000346659:p.Gln309*		25933636	Q15211|Q15212|Q96EN1|Q9UMI5	Nonsense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429854	0.96131	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	.	.	.	5.55	5.55	0.83447	.	0.188644	0.47455	D	0.000224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.9121	17.0083	0.86399	0.0:0.0:1.0:0.0	.	.	.	.	X	309	.	ENSP00000261276:Q309X	Q	-	1	0	OCA2	25933636	1.000000	0.71417	0.913000	0.36048	0.129000	0.20672	6.045000	0.71020	2.618000	0.88619	0.655000	0.94253	CAG		0.572	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		A	28260041	G	A	28260041	4	1	261	1	0	0	0	0	0	1	0	0	10815	1328	46	2	1655	2	OCA2	15	28260041	Nonsense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09		28260041	74271351	86	14553											
RPUSD2	27079	genome.wustl.edu	37	15	40863837	40863837	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:40863837A>G	ENST00000315616.7	+	2	679	c.641A>G	c.(640-642)cAt>cGt	p.H214R	RPUSD2_ENST00000559271.1_Missense_Mutation_p.H153R	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	214					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GTGCACAGGCATGAGCCACCA	0.517																																																0			15											121	79	93					15																	40863837		2203	4300	6503	38651129	SO:0001583	missense	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.641A>G	15.37:g.40863837A>G	ENSP00000323288:p.His214Arg		38651129	B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.805927	0.90623	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.37235	1.21	5.77	5.77	0.91146	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74355	-0.3692	10	0.87932	D	0	-12.8183	16.0957	0.81123	1.0:0.0:0.0:0.0	.	214	Q8IZ73	RUSD2_HUMAN	R	214;193	ENSP00000323288:H214R	ENSP00000323288:H214R	H	+	2	0	RPUSD2	38651129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.114000	0.94329	2.199000	0.70637	0.533000	0.62120	CAT		0.517	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		G	40863837	A	G	40863837	3	3	261	1	0	0	0	0	1	0	0	0	13670	217	8	4	647	4	RPUSD2	15	40863837	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	12603796	40863837	61667555	87	14554											
KIAA1370	56204	genome.wustl.edu	37	15	52902203	52902203	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:52902203C>T	ENST00000261844.7	-	6	1060	c.908G>A	c.(907-909)gGc>gAc	p.G303D	FAM214A_ENST00000546305.2_Missense_Mutation_p.G310D	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	303																	ACTGCCAGTGCCTGGATATAG	0.393																																																0			15											68	57	61					15																	52902203		1850	4090	5940	50689495	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.908G>A	15.37:g.52902203C>T	ENSP00000261844:p.Gly303Asp		50689495	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	7.518	0.656083	0.14580	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.30182	1.54;1.54	5.19	2.02	0.26589	.	0.660762	0.16048	N	0.232087	T	0.17789	0.0427	L	0.31294	0.92	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.18561	0.022;0.01	T	0.12863	-1.0531	10	0.25751	T	0.34	-1.6927	4.0435	0.09761	0.1254:0.4188:0.3631:0.0928	.	310;303	F5H8G0;Q32MH5	.;K1370_HUMAN	D	303;303;302;310	ENSP00000261844:G303D;ENSP00000443598:G310D	ENSP00000261844:G303D	G	-	2	0	KIAA1370	50689495	0.000000	0.05858	0.248000	0.24265	0.662000	0.39071	0.269000	0.18589	1.265000	0.44215	0.655000	0.94253	GGC		0.393	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		T	52902203	C	T	52902203	3	4	261	1	0	0	0	0	1	0	0	0	8226	739	26	2	2354	2	KIAA1370	15	52902203	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	12038366	52902203	49629189	88	14555											
TLN2	83660	genome.wustl.edu	37	15	63111733	63111733	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:63111733C>G	ENST00000561311.1	+	52	7020	c.6790C>G	c.(6790-6792)Cca>Gca	p.P2264A	TLN2_ENST00000306829.6_Missense_Mutation_p.P2264A			Q9Y4G6	TLN2_HUMAN	talin 2	2264					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAAACCAACCCCAGAATTCAA	0.547																																																0			15											88	90	90					15																	63111733		2203	4300	6503	60898786	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6790C>G	15.37:g.63111733C>G	ENSP00000453508:p.Pro2264Ala		60898786	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.526048	0.27299	.	.	ENSG00000171914	ENST00000306829	T	0.66815	-0.23	5.51	5.51	0.81932	.	0.293649	0.38111	N	0.001815	T	0.43322	0.1242	N	0.03071	-0.42	0.38651	D	0.951855	B	0.02656	0.0	B	0.01281	0.0	T	0.45498	-0.9257	10	0.09590	T	0.72	-12.7704	19.451	0.94867	0.0:1.0:0.0:0.0	.	2264	Q9Y4G6	TLN2_HUMAN	A	2264	ENSP00000303476:P2264A	ENSP00000303476:P2264A	P	+	1	0	TLN2	60898786	0.980000	0.34600	0.996000	0.52242	0.992000	0.81027	2.929000	0.48916	2.593000	0.87608	0.655000	0.94253	CCA		0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			G	63111733	C	G	63111733	3	3	261	1	0	0	0	0	1	0	0	0	15948	623	22	3	6988	3	TLN2	15	63111733	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	10209530	63111733	39419659	89	14556											
MYO9A	4649	genome.wustl.edu	37	15	72172833	72172833	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:72172833A>C	ENST00000356056.5	-	29	5937	c.5465T>G	c.(5464-5466)tTc>tGc	p.F1822C	MYO9A_ENST00000424560.1_Missense_Mutation_p.F1893C|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1803C|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1822C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1822	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTCTCTTTGAATTCCTTCCG	0.458																																																0			15											101	98	99					15																	72172833		2199	4297	6496	69959887	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5465T>G	15.37:g.72172833A>C	ENSP00000348349:p.Phe1822Cys		69959887	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135348	0.37728	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84873	-1.88;-1.91;-1.87	5.54	3.12	0.35913	.	.	.	.	.	D	0.83036	0.5167	M	0.65975	2.015	0.34222	D	0.675542	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.80294	-0.1443	9	0.37606	T	0.19	.	13.5576	0.61768	0.4722:0.5278:0.0:0.0	.	1893;1822	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	C	1822;1893;1803	ENSP00000348349:F1822C;ENSP00000399162:F1893C;ENSP00000398250:F1803C	ENSP00000348349:F1822C	F	-	2	0	MYO9A	69959887	0.999000	0.42202	0.996000	0.52242	0.997000	0.91878	1.968000	0.40500	0.337000	0.23665	0.528000	0.53228	TTC		0.458	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		C	72172833	A	C	72172833	3	2	261	1	0	0	0	0	1	0	0	0	10084	246	9	5	2237	5	MYO9A	15	72172833	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	9061100	72172833	30358559	90	14557											
RASGRF1	5923	genome.wustl.edu	37	15	79341918	79341918	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:79341918G>A	ENST00000419573.3	-	4	818	c.544C>T	c.(544-546)Ctc>Ttc	p.L182F	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.L182F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	182					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGTCCTTGAGCAGGGATGTG	0.582																																																0			15											113	88	97					15																	79341918		2196	4293	6489	77128973	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.544C>T	15.37:g.79341918G>A	ENSP00000405963:p.Leu182Phe		77128973	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792004	0.50102	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.44083	0.93	5.15	4.22	0.49857	.	0.691435	0.13542	N	0.380084	T	0.33673	0.0871	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.30793	0.295;0.295;0.19;0.288	B;B;B;B	0.34652	0.125;0.125;0.125;0.187	T	0.18871	-1.0323	10	0.51188	T	0.08	.	6.1171	0.20132	0.0934:0.0:0.7111:0.1955	.	182;182;182;182	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	F	182	ENSP00000405963:L182F	ENSP00000378224:L182F	L	-	1	0	RASGRF1	77128973	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.404000	0.59735	1.323000	0.45263	0.655000	0.94253	CTC		0.582	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79341918	G	A	79341918	3	1	261	1	0	0	0	0	1	0	0	0	13075	971	34	2	3377	2	RASGRF1	15	79341918	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	7169085	79341918	23189474	91	14558											
NTRK3	4916	genome.wustl.edu	37	15	88678625	88678625	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:88678625G>A	ENST00000360948.2	-	9	1072	c.911C>T	c.(910-912)cCc>cTc	p.P304L	NTRK3_ENST00000542733.2_Missense_Mutation_p.P206L|NTRK3_ENST00000357724.2_Missense_Mutation_p.P304L|NTRK3_ENST00000317501.3_Missense_Mutation_p.P304L|NTRK3_ENST00000558676.1_Missense_Mutation_p.P304L|NTRK3_ENST00000540489.2_Missense_Mutation_p.P304L|NTRK3_ENST00000557856.1_Missense_Mutation_p.P304L|NTRK3_ENST00000355254.2_Missense_Mutation_p.P304L|NTRK3_ENST00000394480.2_Missense_Mutation_p.P304L	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	304					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CACACGTGGGGGATCTGTCAA	0.597			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0			15											24	26	25					15																	88678625		2201	4299	6500	86479629	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.911C>T	15.37:g.88678625G>A	ENSP00000354207:p.Pro304Leu		86479629	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828418	0.71143	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.28	5.28	0.74379	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.997;0.997;0.984;0.997;0.999;0.984	D	0.86711	0.1936	10	0.87932	D	0	.	17.9266	0.88985	0.0:0.0:1.0:0.0	.	206;304;304;304;304;304	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	L	304;304;304;304;206;304;304	ENSP00000377990:P304L;ENSP00000354207:P304L;ENSP00000350356:P304L;ENSP00000347397:P304L;ENSP00000437773:P206L;ENSP00000444673:P304L;ENSP00000318328:P304L	ENSP00000318328:P304L	P	-	2	0	NTRK3	86479629	1.000000	0.71417	0.999000	0.59377	0.362000	0.29581	8.965000	0.93393	2.454000	0.82982	0.563000	0.77884	CCC		0.597	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88678625	G	A	88678625	3	1	261	1	0	0	0	0	1	0	0	0	10708	1232	43	2	1914	2	NTRK3	15	88678625	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	9336707	88678625	13852767	92	14559											
LRRK1	79705	genome.wustl.edu	37	15	101565115	101565115	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr15:101565115C>A	ENST00000388948.3	+	16	2534	c.2175C>A	c.(2173-2175)aaC>aaA	p.N725K	LRRK1_ENST00000284395.5_Missense_Mutation_p.N722K	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGTCTGGAACCTGGCGCTGG	0.632																																																0			15											126	141	136					15																	101565115		2059	4189	6248	99382638	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2175C>A	15.37:g.101565115C>A	ENSP00000373600:p.Asn725Lys		99382638		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550211	0.65311	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.80304	-1.36;-1.36	5.11	5.11	0.69529	ROC GTPase (1);Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	L	0.52364	1.645	0.49213	D	0.99976	D	0.76494	0.999	D	0.74674	0.984	T	0.83058	-0.0149	10	0.21014	T	0.42	.	18.5426	0.91035	0.0:1.0:0.0:0.0	.	725	Q38SD2	LRRK1_HUMAN	K	725;722	ENSP00000373600:N725K;ENSP00000284395:N722K	ENSP00000284395:N722K	N	+	3	2	LRRK1	99382638	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.743000	0.55104	2.360000	0.80028	0.650000	0.86243	AAC		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101565115	C	A	101565115	3	1	261	1	0	0	0	0	1	0	0	0	9032	506	18	3	2233	3	LRRK1	15	101565115	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	12886490	101565115	966277	93	14560											
RUNDC2A	92017	genome.wustl.edu	37	16	12145968	12145968	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr16:12145968A>G	ENST00000566228.1	+	8	1082	c.1013A>G	c.(1012-1014)cAg>cGg	p.Q338R	SNX29_ENST00000323433.4_5'Flank|SNX29_ENST00000306030.3_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	338						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TTTGGGTACCAGAAGCTTGAT	0.488																																																0			16											114	117	116					16																	12145968		2197	4300	6497	12053469	SO:0001583	missense	84127			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1013A>G	16.37:g.12145968A>G	ENSP00000456480:p.Gln338Arg		12053469	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991345	0.54041	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	3.55	0.40652	.	0.412177	0.25355	N	0.031262	T	0.68933	0.3055	M	0.63428	1.95	0.80722	D	1	.	.	.	.	.	.	T	0.67715	-0.5599	7	0.56958	D	0.05	-21.3329	11.986	0.53147	0.6701:0.3299:0.0:0.0	.	.	.	.	R	338	.	ENSP00000268271:Q338R	Q	+	2	0	RUNDC2A	12053469	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.265000	0.43311	0.410000	0.25675	0.379000	0.24179	CAG		0.488	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			G	12145968	A	G	12145968	3	3	261	1	0	0	0	0	1	0	0	0	13746	188	7	4	1043	4	RUNDC2A	16	12145968	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09		12145968	78208785	94	14561											
FBXL19	54620	genome.wustl.edu	37	16	30941565	30941565	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr16:30941565C>G	ENST00000380310.2	+	7	1179	c.1021C>G	c.(1021-1023)Ctg>Gtg	p.L341V	FBXL19_ENST00000565690.1_Missense_Mutation_p.L205V|FBXL19_ENST00000471231.2_Missense_Mutation_p.L29V|FBXL19_ENST00000562319.1_Missense_Mutation_p.L321V|FBXL19_ENST00000338343.4_Missense_Mutation_p.L321V	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	341	Ser-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGGCACATCGCTGAGTGAGGA	0.682																																																0			16											27	30	29					16																	30941565		2016	4165	6181	30849066	SO:0001583	missense	54620			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1021C>G	16.37:g.30941565C>G	ENSP00000369666:p.Leu341Val		30849066	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.60|11.60	1.687677|1.687677	0.29962|0.29962	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.22743	.|1.94;2.26	5.3|5.3	4.35|4.35	0.52113|0.52113	.|.	.|2.607160	.|0.01630	.|N	.|0.023479	T|T	0.14098|0.14098	0.0341|0.0341	N|N	0.08118|0.08118	0|0	0.26649|0.26649	N|N	0.972138|0.972138	.|B;B	.|0.17667	.|0.023;0.02	.|B;B	.|0.17722	.|0.019;0.013	T|T	0.21690|0.21690	-1.0238|-1.0238	5|10	.|0.25751	.|T	.|0.34	-7.4249|-7.4249	8.72|8.72	0.34434|0.34434	0.0:0.7667:0.1515:0.0817|0.0:0.7667:0.1515:0.0817	.|.	.|341;298	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	G|V	232|321;341	.|ENSP00000339712:L321V;ENSP00000369666:L341V	.|ENSP00000339712:L321V	A|L	+|+	2|1	0|2	FBXL19|FBXL19	30849066|30849066	0.111000|0.111000	0.22076|0.22076	0.992000|0.992000	0.48379|0.48379	0.935000|0.935000	0.57460|0.57460	2.326000|2.326000	0.43849|0.43849	1.248000|1.248000	0.43934|0.43934	-0.140000|-0.140000	0.14226|0.14226	GCT|CTG		0.682	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		G	30941565	C	G	30941565	3	3	261	1	0	0	0	0	1	0	0	0	5715	796	28	3	1047	3	FBXL19	16	30941565	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	18795597	30941565	59413188	95	14562											
NIP7	51388	genome.wustl.edu	37	16	69375484	69375484	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr16:69375484C>T	ENST00000254940.5	+	5	872	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	COG8_ENST00000306875.4_5'Flank|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.P111S|RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000562081.1_5'Flank	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	158	C-terminal domain.|PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				AAAAGTAGACCCCATGGCGAT	0.463																																																0			16											121	120	120					16																	69375484		2198	4300	6498	67932985	SO:0001583	missense	51388			AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"nuclear import 7 homolog (S. cerevisiae)"			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.472C>T	16.37:g.69375484C>T	ENSP00000254940:p.Pro158Ser		67932985	B2RD04|Q9NZZ0	Missense_Mutation	SNP	ENST00000254940.5	37	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127556	0.94473	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.44	5.44	0.79542	Pseudouridine synthase/archaeosine transglycosylase (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.90542	3.125	0.80722	D	1	D;P	0.53619	0.961;0.622	P;P	0.55391	0.775;0.498	D	0.86117	0.1566	9	0.66056	D	0.02	-17.3855	19.6311	0.95701	0.0:1.0:0.0:0.0	.	111;158	Q9Y221-2;Q9Y221	.;NIP7_HUMAN	S	158;111	.	ENSP00000254940:P158S	P	+	1	0	NIP7	67932985	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.710000	0.92621	0.561000	0.74099	CCC		0.463	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2	NM_016101		T	69375484	C	T	69375484	3	4	261	1	0	0	0	0	1	0	0	0	10421	623	22	2	490	2	NIP7	16	69375484	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	38433919	69375484	20979269	96	14563											
CALB2	794	genome.wustl.edu	37	16	71423753	71423776	+	Stop_Codon_Del	DEL	CGAGCCCCCCATGTAAAGTGGGGA	CGAGCCCCCCATGTAAAGTGGGGA	-	rs143855539|rs367551104|rs370211423	byFrequency	TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	CGAGCCCCCCATGTAAAGTGGGGA	CGAGCCCCCCATGTAAAGTGGGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr16:71423753_71423776delCGAGCCCCCCATGTAAAGTGGGGA	ENST00000302628.4	+	0	878_901				CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2						cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E268K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGCTCTGCAGCGAGCCCCCCATGTAAAGTGGGGACGGGGGCTGC	0.594																																																1	Substitution - Missense(1)	skin(1)	16																																								69981277	SO:0001567	stop_retained_variant	794			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	Exception_encountered	16.37:g.71423753_71423776delCGAGCCCCCCATGTAAAGTGGGGA	ENSP00000307508:p.*272Tyrext*20		69981254	A8K4Y1|Q53HD2|Q96BK4	Frame_Shift_Del	DEL	ENST00000302628.4	37	CCDS10899.1																																																																																				0.594	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		-	71423776	CGAGCCCCCCATGTAAAGTGGGGA	-	71423753	7	5	261	1	0	1	0	1	0	0	0	0	2574	767	27	0	843	0	CALB2	16	71423753	Stop_Codon_Del	DEL	CGAGCCCCCCATGTAAAGTGGGGA	TCGA-24-1845-01A-01W-0639-09	2048269	71423753	18931000	97	14564											
ASPA	443	genome.wustl.edu	37	17	3379649	3379649	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:3379649G>T	ENST00000263080.2	+	1	354	c.196G>T	c.(196-198)Gac>Tac	p.D66Y	ASPA_ENST00000456349.2_Missense_Mutation_p.D66Y|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	66					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CAGATATATTGACTGTGACCT	0.408																																																0			17											182	163	169					17																	3379649		2203	4300	6503	3326399	SO:0001583	missense	443			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.196G>T	17.37:g.3379649G>T	ENSP00000263080:p.Asp66Tyr		3326399		Missense_Mutation	SNP	ENST00000263080.2	37	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	g	26.5	4.744145	0.89663	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.98876	-5.2;-5.2	5.46	5.46	0.80206	.	0.045056	0.85682	D	0.000000	D	0.99296	0.9754	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.99236	1.0883	10	0.87932	D	0	-14.4341	18.6955	0.91599	0.0:0.0:1.0:0.0	.	66	P45381	ACY2_HUMAN	Y	66	ENSP00000409976:D66Y;ENSP00000263080:D66Y	ENSP00000263080:D66Y	D	+	1	0	ASPA	3326399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.753000	0.85153	2.733000	0.93635	0.655000	0.94253	GAC		0.408	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		T	3379649	G	T	3379649	3	4	261	1	0	0	0	0	1	0	0	0	1050	1290	45	3	198	3	ASPA	17	3379649	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09		3379649	77815561	98	14565											
FXR2	9513	genome.wustl.edu	37	17	7507345	7507345	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:7507345C>T	ENST00000250113.7	-	4	616	c.282G>A	c.(280-282)gtG>gtA	p.V94V		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	94	Agenet-like 2.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCATCATCCGCACCCGGGCCA	0.443																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	17											39	42	41					17																	7507345		1936	4135	6071	7448070	SO:0001819	synonymous_variant	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.282G>A	17.37:g.7507345C>T			7448070	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	CCDS45604.1																																																																																				0.443	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			T	7507345	C	T	7507345	2	4	261	1	0	0	0	0	0	0	0	1	6116	697	25	2		2	FXR2	17	7507345	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	4127696	7507345	73687865	99	14566											
TP53	7157	genome.wustl.edu	37	17	7579528	7579528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:7579528C>T	ENST00000269305.4	-	4	348	c.159G>A	c.(157-159)tgG>tgA	p.W53*	TP53_ENST00000445888.2_Nonsense_Mutation_p.W53*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W53*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.W53*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W53*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W53*	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	53	Interaction with HRMT1L2.		W -> C (in sporadic cancers; somatic mutation).|W -> G (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.W53*(6)|p.W53C(2)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.F54fs*3(1)|p.P13fs*18(1)|p.S33fs*23(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)	CTTCAGTGAACCATTGTTCAA	0.592		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"	22	Whole gene deletion(8)|Substitution - Nonsense(6)|Deletion - Frameshift(5)|Substitution - Missense(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|ovary(2)|stomach(1)|endometrium(1)|skin(1)|prostate(1)|pancreas(1)	17											164	164	164					17																	7579528		2203	4300	6503	7520253	SO:0001587	stop_gained	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.159G>A	17.37:g.7579528C>T	ENSP00000269305:p.Trp53*		7520253	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607040	0.46527	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.95	0.597	0.17504	.	12.513700	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0528	6.5385	0.22367	0.3649:0.4576:0.1774:0.0	.	.	.	.	X	53	.	ENSP00000269305:W53X	W	-	3	0	TP53	7520253	0.011000	0.17503	0.003000	0.11579	0.008000	0.06430	0.434000	0.21494	0.180000	0.19960	0.561000	0.74099	TGG		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7579528	C	T	7579528	4	4	261	1	0	0	0	0	0	1	0	0	16381	508	18	2	1143	2	TP53	17	7579528	Nonsense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	72183	7579528	73615682	100	14567											
PIK3R5	23533	genome.wustl.edu	37	17	8792462	8792462	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:8792462T>C	ENST00000447110.1	-	9	1013	c.889A>G	c.(889-891)Agc>Ggc	p.S297G	PIK3R5_ENST00000581552.1_Missense_Mutation_p.S297G|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S297G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	297				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTACCAAAGCTGTCCTGGCTC	0.602																																					NSCLC(18;589 615 7696 20311 50332)											0			17											61	56	58					17																	8792462		2203	4300	6503	8733187	SO:0001583	missense	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.889A>G	17.37:g.8792462T>C	ENSP00000392812:p.Ser297Gly		8733187	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.346229	0.41599	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77489	-1.1	5.15	5.15	0.70609	.	0.203284	0.53938	D	0.000050	T	0.64638	0.2616	N	0.24115	0.695	0.34783	D	0.734903	P	0.45283	0.855	B	0.41988	0.372	T	0.73414	-0.3990	10	0.39692	T	0.17	-33.8523	9.3905	0.38370	0.0:0.0803:0.0:0.9197	.	297	Q8WYR1	PI3R5_HUMAN	G	297	ENSP00000392812:S297G	ENSP00000269300:S297G	S	-	1	0	PIK3R5	8733187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.507000	0.53371	2.180000	0.69256	0.529000	0.55759	AGC		0.602	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		C	8792462	T	C	8792462	3	2	261	1	0	0	0	0	1	0	0	0	11922	1580	55	4	1797	4	PIK3R5	17	8792462	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09	1212934	8792462	72402748	101	14568											
MYOCD	93649	genome.wustl.edu	37	17	12656605	12656605	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:12656605C>A	ENST00000343344.4	+	10	2000	c.2000C>A	c.(1999-2001)gCc>gAc	p.A667D	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A571D|MYOCD_ENST00000425538.1_Missense_Mutation_p.A667D			Q8IZQ8	MYCD_HUMAN	myocardin	667					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCTCCGGGGCCCAGGGAGAA	0.607																																																0			17											59	64	62					17																	12656605		2203	4300	6503	12597330	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2000C>A	17.37:g.12656605C>A	ENSP00000341835:p.Ala667Asp		12597330	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368936	0.42003	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.44482	0.92;0.93	5.73	4.76	0.60689	.	0.967672	0.08639	N	0.915802	T	0.47284	0.1437	L	0.60455	1.87	0.09310	N	1	B;B;P;B	0.36465	0.22;0.328;0.554;0.242	B;B;B;B	0.40477	0.046;0.284;0.33;0.075	T	0.37911	-0.9685	10	0.33141	T	0.24	-3.6048	13.7053	0.62633	0.0:0.9247:0.0:0.0753	.	386;571;667;667	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	D	386;667;667;571;372	ENSP00000341835:A667D;ENSP00000400148:A372D	ENSP00000341835:A667D	A	+	2	0	MYOCD	12597330	0.173000	0.23056	0.002000	0.10522	0.000000	0.00434	5.298000	0.65710	1.454000	0.47793	-0.147000	0.13772	GCC		0.607	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		A	12656605	C	A	12656605	3	1	261	1	0	0	0	0	1	0	0	0	10087	739	26	3	2038	3	MYOCD	17	12656605	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	3864143	12656605	68538605	102	14569											
TMEM98	26022	genome.wustl.edu	37	17	31260246	31260246	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:31260246A>C	ENST00000579849.1	+	4	617	c.186A>C	c.(184-186)ttA>ttC	p.L62F	TMEM98_ENST00000578289.1_Missense_Mutation_p.L62F|TMEM98_ENST00000394642.3_Missense_Mutation_p.L62F	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	62						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CCTCTGAGTTAGAACTGGACG	0.532																																																0			17											142	125	131					17																	31260246		2203	4300	6503	28284359	SO:0001583	missense	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.186A>C	17.37:g.31260246A>C	ENSP00000463245:p.Leu62Phe		28284359	E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	37	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808408	0.70797	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.48836	0.8;0.8;0.83;0.81	5.18	-5.92	0.02261	.	0.077389	0.52532	D	0.000066	T	0.36524	0.0970	N	0.14661	0.345	0.80722	D	1	D	0.59767	0.986	P	0.55923	0.787	T	0.63721	-0.6573	10	0.39692	T	0.17	-6.2055	14.9486	0.71054	0.4108:0.0:0.5892:0.0	.	62	Q9Y2Y6	TMM98_HUMAN	F	62	ENSP00000378138:L62F;ENSP00000261713:L62F;ENSP00000398446:L62F;ENSP00000406394:L62F	ENSP00000261713:L62F	L	+	3	2	TMEM98	28284359	0.843000	0.29541	0.898000	0.35279	0.938000	0.57974	-0.006000	0.12833	2.411000	0.81874	0.563000	0.77884	TTA		0.532	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		C	31260246	A	C	31260246	3	2	261	1	0	0	0	0	1	0	0	0	16225	417	15	5	192	5	TMEM98	17	31260246	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	18603641	31260246	49934964	103	14570											
NR1D1	9572	genome.wustl.edu	37	17	38256336	38256336	+	Silent	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:38256336C>T	ENST00000246672.3	-	1	642	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	4	Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					TGTTGGAGTCCAGGGTCGTCA	0.498																																																0			17											217	179	192					17																	38256336		2203	4300	6503	35509862	SO:0001819	synonymous_variant	9572			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.12G>A	17.37:g.38256336C>T			35509862	Q0P5Z4|Q15304	Silent	SNP	ENST00000246672.3	37	CCDS11361.1																																																																																				0.498	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			T	38256336	C	T	38256336	2	4	261	1	0	0	0	0	0	0	0	1	10615	581	21	2		2	NR1D1	17	38256336	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	6996090	38256336	42938874	104	14571											
SLC4A1	6521	genome.wustl.edu	37	17	42330583	42330583	+	Silent	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:42330583G>T	ENST00000262418.6	-	17	2369	c.2214C>A	c.(2212-2214)ctC>ctA	p.L738L		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	738	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATGACAGTGAGGGCGTTGG	0.642																																																0			17											72	64	66					17																	42330583		2203	4300	6503	39686109	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2214C>A	17.37:g.42330583G>T			39686109	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	CCDS11481.1																																																																																				0.642	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		T	42330583	G	T	42330583	2	4	261	1	0	0	0	0	0	0	0	1	14653	1277	45	3		3	SLC4A1	17	42330583	Silent	SNP	G	TCGA-24-1845-01A-01W-0639-09	4074247	42330583	38864627	105	14572											
SCRN2	90507	genome.wustl.edu	37	17	45915751	45915751	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:45915751G>C	ENST00000290216.9	-	7	1129	c.1004C>G	c.(1003-1005)aCt>aGt	p.T335S	SCRN2_ENST00000584123.1_Missense_Mutation_p.T343S|SCRN2_ENST00000407215.3_Missense_Mutation_p.T335S	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	335						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGCTCCAAAAGTGGGGGACAG	0.602																																																0			17											60	71	67					17																	45915751		2203	4300	6503	43270750	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1004C>G	17.37:g.45915751G>C	ENSP00000290216:p.Thr335Ser		43270750	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	G	8.426	0.847439	0.17034	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.07688	3.34;3.17	5.66	2.34	0.29019	.	0.418550	0.29529	N	0.011889	T	0.04543	0.0124	N	0.17838	0.53	0.33025	D	0.529367	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.08055	0.003;0.003;0.003	T	0.33445	-0.9868	10	0.07990	T	0.79	-9.6445	9.2944	0.37806	0.0831:0.4733:0.4436:0.0	.	335;335;335	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	S	335	ENSP00000290216:T335S;ENSP00000383935:T335S	ENSP00000290216:T335S	T	-	2	0	SCRN2	43270750	0.065000	0.20965	0.998000	0.56505	0.980000	0.70556	0.756000	0.26419	0.713000	0.32060	-0.136000	0.14681	ACT		0.602	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		C	45915751	G	C	45915751	3	2	261	1	0	0	0	0	1	0	0	0	13942	1029	36	3	299	3	SCRN2	17	45915751	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	3585168	45915751	35279459	106	14573											
MTMR4	9110	genome.wustl.edu	37	17	56581490	56581490	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:56581490C>T	ENST00000323456.5	-	14	1701	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	526	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAGCAGGTCCGCTTGTAGAT	0.522																																																0			17											123	119	120					17																	56581490		2203	4300	6503	53936489	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1577G>A	17.37:g.56581490C>T	ENSP00000325285:p.Arg526Gln		53936489	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675684	0.96764	.	.	ENSG00000108389	ENST00000323456	D	0.90676	-2.71	5.81	5.81	0.92471	Myotubularin phosphatase domain (1);	0.958484	0.08632	N	0.916808	D	0.95822	0.8640	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.92798	0.6254	10	0.87932	D	0	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	526	Q9NYA4	MTMR4_HUMAN	Q	526	ENSP00000325285:R526Q	ENSP00000325285:R526Q	R	-	2	0	MTMR4	53936489	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.445000	0.80570	2.752000	0.94435	0.467000	0.42956	CGG		0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		T	56581490	C	T	56581490	3	4	261	1	0	0	0	0	1	0	0	0	9946	652	23	1	2034	1	MTMR4	17	56581490	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	10665739	56581490	24613720	107	14574											
C17orf58	284018	genome.wustl.edu	37	17	65989222	65989222	+	Missense_Mutation	SNP	C	C	T	rs111513651		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr17:65989222C>T	ENST00000449250.2	-	2	230	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	C17orf58_ENST00000334461.7_Missense_Mutation_p.R14Q|C17orf58_ENST00000536693.1_Missense_Mutation_p.R14Q|RP11-855A2.5_ENST00000580729.1_lincRNA			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	14										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATGTGGACTCGGAAGAAGAA	0.567																																																0			17											61	65	64					17																	65989222		1933	4121	6054	63419684	SO:0001583	missense	284018			AK026583	CCDS42375.1, CCDS45765.1	17q24.2	2012-10-11			ENSG00000186665	ENSG00000186665			27568	protein-coding gene	gene with protein product						12477932	Standard	NM_181656		Approved		uc002jgi.4	Q2M2W7	OTTHUMG00000179782	ENST00000449250.2:c.41G>A	17.37:g.65989222C>T	ENSP00000402020:p.Arg14Gln		63419684	A8MQV2	Missense_Mutation	SNP	ENST00000449250.2	37	CCDS45765.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793283	0.70452	.	.	ENSG00000186665	ENST00000449250;ENST00000334461;ENST00000536693	T	0.29917	1.55	4.62	4.62	0.57501	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.094031	0.43919	D	0.000506	T	0.55401	0.1918	.	.	.	0.33369	D	0.573376	D;D	0.89917	1.0;0.997	D;P	0.72338	0.977;0.853	T	0.70234	-0.4928	9	0.66056	D	0.02	-15.4958	15.6148	0.76756	0.0:1.0:0.0:0.0	.	14;14	Q2M2W7-2;Q2M2W7	.;CQ058_HUMAN	Q	14	ENSP00000402020:R14Q	ENSP00000334741:R14Q	R	-	2	0	C17orf58	63419684	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.786000	0.62425	2.123000	0.65237	0.542000	0.68232	CGA		0.567	C17orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448104.1	NM_181656		T	65989222	C	T	65989222	3	4	261	1	0	0	0	0	1	0	0	0	1866	884	31	1	385	1	C17orf58	17	65989222	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	9407732	65989222	15205988	108	14575											
SPIRE1	56907	genome.wustl.edu	37	18	12453137	12453137	+	Splice_Site	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr18:12453137G>T	ENST00000409402.4	-	14	2044	c.1777C>A	c.(1777-1779)Ctc>Atc	p.L593I	SPIRE1_ENST00000453447.2_Splice_Site_p.L459I|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Splice_Site_p.L420I|SPIRE1_ENST00000410092.3_Splice_Site_p.L579I|SPIRE1_ENST00000309836.5_Splice_Site_p.L382I	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CAAAAGCAGAGCTAAAAAATA	0.338																																																0			18											47	50	49					18																	12453137		2202	4300	6502	12443137	SO:0001630	splice_region_variant	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1777-1C>A	18.37:g.12453137G>T			12443137		Missense_Mutation	SNP	ENST00000409402.4	37	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	8.582	0.882537	0.17467	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.95	5.07	0.68467	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	N	0.21282	0.65	0.58432	D	0.999999	B;P;P	0.39601	0.194;0.68;0.659	B;B;P	0.54026	0.085;0.131;0.74	T	0.70353	-0.4895	10	0.09843	T	0.71	-20.748	16.5037	0.84263	0.0:0.0:0.8679:0.1321	.	579;382;593	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	I	459;593;579;382;420	ENSP00000407050:L459I;ENSP00000387266:L593I;ENSP00000387226:L579I;ENSP00000309661:L382I;ENSP00000372847:L420I	ENSP00000309661:L382I	L	-	1	0	SPIRE1	12443137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	1.488000	0.48433	0.650000	0.86243	CTC		0.338	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	Missense_Mutation	T	12453137	G	T	12453137	5	4	261	1	0	0	0	0	0	0	1	0	15073	985	34	3	509	3	SPIRE1	18	12453137	Splice_Site	SNP	G	TCGA-24-1845-01A-01W-0639-09		12453137	65624111	109	14576											
C18orf1	753	genome.wustl.edu	37	18	13438331	13438331	+	Missense_Mutation	SNP	C	C	G	rs145523399		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr18:13438331C>G	ENST00000359446.5	+	3	597	c.129C>G	c.(127-129)gaC>gaG	p.D43E	LDLRAD4_ENST00000361205.4_Missense_Mutation_p.D43E|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.D43E	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	43	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.D43E(1)									ACAACAGTGACGAAGAGAACT	0.517																																																1	Substitution - Missense(1)	endometrium(1)	18											123	115	118					18																	13438331		2203	4300	6503	13428331	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.129C>G	18.37:g.13438331C>G	ENSP00000352420:p.Asp43Glu		13428331	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094931	0.76870	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	D;D	0.99194	-5.54;-5.54	5.22	-3.52	0.04682	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.56097	D	0.000030	D	0.99302	0.9756	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99063	1.0831	10	0.51188	T	0.08	-0.8517	11.3063	0.49336	0.0:0.3691:0.0:0.6309	.	43;43	O15165-2;O15165	.;CR001_HUMAN	E	43	ENSP00000354753:D43E;ENSP00000382741:D43E	ENSP00000354753:D43E	D	+	3	2	C18orf1	13428331	1.000000	0.71417	0.961000	0.40146	0.987000	0.75469	0.736000	0.26130	-0.955000	0.03636	-0.812000	0.03155	GAC		0.517	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		G	13438331	C	G	13438331	3	3	261	1	0	0	0	0	1	0	0	0	1894	535	19	3	135	3	C18orf1	18	13438331	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	985194	13438331	64638917	110	14577											
ZNF236	7776	genome.wustl.edu	37	18	74592166	74592166	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr18:74592166A>T	ENST00000253159.8	+	8	1274	c.1076A>T	c.(1075-1077)cAg>cTg	p.Q359L	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q361L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	359					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACGTCATCCAGCAGCTCCTG	0.637																																																0			18											40	45	44					18																	74592166		2004	4157	6161	72721154	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1076A>T	18.37:g.74592166A>T	ENSP00000253159:p.Gln359Leu		72721154	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.877822	0.91664	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12879	2.64;2.81	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.76494	0.999;0.993	D;D	0.72338	0.941;0.977	T	0.05903	-1.0857	10	0.40728	T	0.16	.	15.185	0.72993	1.0:0.0:0.0:0.0	.	359;359	Q9NWI2;Q9UL36	.;ZN236_HUMAN	L	359	ENSP00000253159:Q359L;ENSP00000444524:Q359L	ENSP00000253159:Q359L	Q	+	2	0	ZNF236	72721154	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	8.694000	0.91293	1.989000	0.58080	0.455000	0.32223	CAG		0.637	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			T	74592166	A	T	74592166	3	4	261	1	0	0	0	0	1	0	0	0	17789	188	7	5	1106	5	ZNF236	18	74592166	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	61153835	74592166	3485082	111	14578											
TRIP10	9322	genome.wustl.edu	37	19	6750556	6750556	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:6750556C>A	ENST00000313244.9	+	14	1604	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_Missense_Mutation_p.D359E|TRIP10_ENST00000596758.1_Missense_Mutation_p.D467E|TRIP10_ENST00000313285.8_Missense_Mutation_p.D467E			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	523	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGAGCCAGGACACCCCCATTT	0.547																																																0			19											106	94	98					19																	6750556		2203	4300	6503	6701556	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1569C>A	19.37:g.6750556C>A	ENSP00000320117:p.Asp523Glu		6701556	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37		.	.	.	.	.	.	.	.	.	.	C	0.033	-1.320583	0.01320	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.77489	-1.1;-1.1	4.67	0.0113	0.14086	Src homology-3 domain (1);	0.646995	0.14610	N	0.309066	T	0.70815	0.3267	N	0.19112	0.55	0.23916	N	0.996476	P;D;P	0.64830	0.594;0.994;0.829	B;D;B	0.70716	0.341;0.97;0.415	T	0.61347	-0.7081	10	0.06236	T	0.91	-32.4186	6.61	0.22747	0.0:0.5625:0.1225:0.3151	.	467;523;467	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	E	467;523;467	ENSP00000320493:D467E;ENSP00000320117:D523E	ENSP00000320117:D523E	D	+	3	2	TRIP10	6701556	0.000000	0.05858	0.834000	0.33040	0.728000	0.41692	-1.086000	0.03386	-0.262000	0.09392	-1.786000	0.00637	GAC		0.547	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			A	6750556	C	A	6750556	3	1	261	1	0	0	0	0	1	0	0	0	16554	477	17	3	1451	3	TRIP10	19	6750556	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09		6750556	52378427	112	14579											
MUC16	94025	genome.wustl.edu	37	19	9084558	9084573	+	Frame_Shift_Del	DEL	TGTAGATGTGGGAACC	TGTAGATGTGGGAACC	-	rs547499517		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	TGTAGATGTGGGAACC	TGTAGATGTGGGAACC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:9084558_9084573delTGTAGATGTGGGAACC	ENST00000397910.4	-	1	7445_7460	c.7242_7257delGGTTCCCACATCTACA	c.(7240-7257)caggttcccacatctacafs	p.QVPTST2414fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2414	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTCTGTTGTAGATGTGGGAACCTGGGGTCTAT	0.491																																																0			19																																								8945573	SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7242_7257delGGTTCCCACATCTACA	19.37:g.9084558_9084573delTGTAGATGTGGGAACC	ENSP00000381008:p.Gln2414fs		8945558	Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																				0.491	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		-	9084573	TGTAGATGTGGGAACC	-	9084558	7	5	261	1	0	1	0	1	0	0	0	0	9973	1799	63	0	36602	0	MUC16	19	9084558	Frame_Shift_Del	DEL	TGTAGATGTGGGAACC	TCGA-24-1845-01A-01W-0639-09	2334002	9084558	50044425	113	14580											
FARSA	2193	genome.wustl.edu	37	19	13033679	13033679	+	Silent	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:13033679G>C	ENST00000314606.4	-	13	1428	c.1410C>G	c.(1408-1410)ggC>ggG	p.G470G	FARSA_ENST00000588025.1_Silent_p.G510G|MIR5695_ENST00000579717.1_RNA|FARSA_ENST00000423140.2_Silent_p.G439G	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	470					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TATTGTTGATGCCATATTTGA	0.567																																																0			19											185	154	164					19																	13033679		2203	4300	6503	12894679	SO:0001819	synonymous_variant	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1410C>G	19.37:g.13033679G>C			12894679	B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	CCDS12287.1																																																																																				0.567	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		C	13033679	G	C	13033679	2	2	261	1	0	0	0	0	0	0	0	1	5679	1306	46	3		3	FARSA	19	13033679	Silent	SNP	G	TCGA-24-1845-01A-01W-0639-09	3949121	13033679	46095304	114	14581											
SLC1A6	6511	genome.wustl.edu	37	19	15063751	15063751	+	Silent	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:15063751C>A	ENST00000221742.3	-	8	1495	c.1488G>T	c.(1486-1488)gtG>gtT	p.V496V	SLC1A6_ENST00000600144.1_Silent_p.V418V|SLC1A6_ENST00000430939.2_Silent_p.V432V	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	496					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGAACCAGTCCACGGCAATGA	0.582																																																0			19											192	144	160					19																	15063751		2203	4300	6503	14924751	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1488G>T	19.37:g.15063751C>A			14924751	Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1																																																																																				0.582	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		A	15063751	C	A	15063751	2	1	261	1	0	0	0	0	0	0	0	1	14439	581	21	3		3	SLC1A6	19	15063751	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	2030072	15063751	44065232	115	14582											
C19orf46	163183	genome.wustl.edu	37	19	36497458	36497458	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:36497458G>T	ENST00000324444.3	-	5	845	c.734C>A	c.(733-735)aCa>aAa	p.T245K	ALKBH6_ENST00000495116.2_5'Flank|SYNE4_ENST00000340477.5_Missense_Mutation_p.T132K|AC002116.8_ENST00000473572.2_RNA	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	245					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CTCCAACTCTGTGGAAGTGGG	0.657																																																0			19											13	15	14					19																	36497458		1842	4079	5921	41189298	SO:0001583	missense	163183			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"chromosome 19 open reading frame 46", "deafness, autosomal recessive 76"	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.734C>A	19.37:g.36497458G>T	ENSP00000316130:p.Thr245Lys		41189298	A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	CCDS42553.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080863	0.36758	.	.	ENSG00000181392	ENST00000340477;ENST00000324444	T;T	0.32272	1.46;1.53	5.74	1.49	0.22878	.	0.686003	0.15273	N	0.271124	T	0.13372	0.0324	N	0.08118	0	0.22081	N	0.999378	B;B	0.16166	0.016;0.0	B;B	0.13407	0.009;0.0	T	0.14337	-1.0476	10	0.72032	D	0.01	-24.7888	3.9479	0.09356	0.1862:0.0:0.5506:0.2632	.	132;245	Q8N205-2;Q8N205	.;SYNE4_HUMAN	K	132;245	ENSP00000343152:T132K;ENSP00000316130:T245K	ENSP00000316130:T245K	T	-	2	0	C19orf46	41189298	0.984000	0.35163	0.999000	0.59377	0.453000	0.32348	1.720000	0.38022	1.442000	0.47568	0.655000	0.94253	ACA		0.657	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		T	36497458	G	T	36497458	3	4	261	1	0	0	0	0	1	0	0	0	1929	1377	48	3	496	3	C19orf46	19	36497458	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	21433707	36497458	22631525	116	14583											
SELV	348303	genome.wustl.edu	37	19	40009607	40009607	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:40009607A>T	ENST00000335426.4	+	4	1053	c.953A>T	c.(952-954)cAt>cTt	p.H318L	SELV_ENST00000423711.1_Missense_Mutation_p.H318L	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		318					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACTGGTCCATTCCAAGAAG	0.592																																																0			19											135	137	137					19																	40009607		2025	4191	6216	44701447	SO:0001583	missense	0																														ENST00000335426.4:c.953A>T	19.37:g.40009607A>T	ENSP00000333956:p.His318Leu		44701447	Q17RG5	Missense_Mutation	SNP	ENST00000335426.4	37	CCDS54266.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457227	0.63401	.	.	ENSG00000186838	ENST00000335426;ENST00000423711	T;T	0.44482	0.92;0.92	3.79	3.79	0.43588	Thioredoxin-like fold (2);	.	.	.	.	T	0.65302	0.2678	M	0.87381	2.88	0.41213	D	0.986456	D	0.89917	1.0	D	0.91635	0.999	T	0.70521	-0.4849	9	0.87932	D	0	-8.7025	9.1538	0.36980	1.0:0.0:0.0:0.0	.	318	P59797	SELV_HUMAN	L	318	ENSP00000333956:H318L;ENSP00000412508:H318L	ENSP00000333956:H318L	H	+	2	0	AC011500.1	44701447	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.537000	0.53590	1.716000	0.51395	0.392000	0.25879	CAT		0.592	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389802.1			T	40009607	A	T	40009607	3	4	261	1	0	0	0	0	1	0	0	0	14026	217	8	5	967	5	SELV	19	40009607	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	3512149	40009607	19119376	117	14584											
LHB	3972	genome.wustl.edu	37	19	49519472	49519472	+	Silent	SNP	C	C	T	rs377599735		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:49519472C>T	ENST00000221421.2	-	3	278	c.279G>A	c.(277-279)ccG>ccA	p.P93P	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	93					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCACACCACGCGGGCAGCCAG	0.682																																																0			19											74	74	74					19																	49519472		2203	4300	6503	54211284	SO:0001819	synonymous_variant	3972				CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"Endogenous ligands"	6584	protein-coding gene	gene with protein product	"lutropin, beta chain", "interstitial cell stimulating hormone, beta chain", "luteinizing hormone beta subunit"	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.279G>A	19.37:g.49519472C>T			54211284	Q9UDI0	Silent	SNP	ENST00000221421.2	37	CCDS12748.1																																																																																				0.682	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894		T	49519472	C	T	49519472	2	4	261	1	0	0	0	0	0	0	0	1	8761	755	27	1		1	LHB	19	49519472	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	9509865	49519472	9609511	118	14585											
KLK3	354	genome.wustl.edu	37	19	51361528	51361528	+	Silent	SNP	C	C	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:51361528C>A	ENST00000326003.2	+	3	491	c.450C>A	c.(448-450)acC>acA	p.T150T	KLK3_ENST00000593997.1_Silent_p.T150T|KLK3_ENST00000360617.3_Silent_p.T150T|KLK3_ENST00000595952.1_Silent_p.T107T|KLK3_ENST00000597483.1_Silent_p.T107T	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	150	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACTGGGGACCACCTGCTACG	0.657																																					Colon(185;1767 2023 13025 30120 37630)											0			19											57	54	55					19																	51361528		2203	4300	6503	56053340	SO:0001819	synonymous_variant	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.450C>A	19.37:g.51361528C>A			56053340	C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	CCDS12807.1																																																																																				0.657	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		A	51361528	C	A	51361528	2	1	261	1	0	0	0	0	0	0	0	1	8405	581	21	3		3	KLK3	19	51361528	Silent	SNP	C	TCGA-24-1845-01A-01W-0639-09	1842056	51361528	7767455	119	14586											
ZNF160	90338	genome.wustl.edu	37	19	53572425	53572425	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr19:53572425C>G	ENST00000429604.1	-	7	1777	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N	ZNF160_ENST00000599056.1_Missense_Mutation_p.K454N|ZNF160_ENST00000601421.1_Missense_Mutation_p.K418N|ZNF160_ENST00000418871.1_Missense_Mutation_p.K454N	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	454					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ATTCATTACACTTGTAAGGTT	0.403																																																0			19											154	153	153					19																	53572425		2203	4300	6503	58264237	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1362G>C	19.37:g.53572425C>G	ENSP00000406201:p.Lys454Asn		58264237	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773348	0.16051	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.20200	2.09;2.09	2.47	-1.3	0.09259	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32556	0.0833	M	0.74881	2.28	0.41266	D	0.98681	D	0.67145	0.996	P	0.58520	0.84	T	0.21895	-1.0232	9	0.66056	D	0.02	.	4.2222	0.10563	0.0:0.2624:0.1757:0.5619	.	454	Q9HCG1	ZN160_HUMAN	N	454	ENSP00000406201:K454N;ENSP00000409597:K454N	ENSP00000409597:K454N	K	-	3	2	ZNF160	58264237	0.000000	0.05858	0.001000	0.08648	0.296000	0.27459	-2.191000	0.01246	-0.541000	0.06257	-0.258000	0.10820	AAG		0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		G	53572425	C	G	53572425	3	3	261	1	0	0	0	0	1	0	0	0	17739	564	20	3	1098	3	ZNF160	19	53572425	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	2210897	53572425	5556558	120	14587											
C20orf103	24141	genome.wustl.edu	37	20	9510367	9510367	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr20:9510367T>A	ENST00000246070.2	+	6	1235	c.743T>A	c.(742-744)gTc>gAc	p.V248D	LAMP5_ENST00000427562.2_Missense_Mutation_p.V204D	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	248						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											TTGGGCCTCGTCATCATGGTA	0.517																																																0			20											129	103	112					20																	9510367		2203	4300	6503	9458367	SO:0001583	missense	24141			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.743T>A	20.37:g.9510367T>A	ENSP00000246070:p.Val248Asp		9458367	B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524590	0.64747	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.35789	1.29;1.29	6.16	6.16	0.99307	.	0.174292	0.51477	D	0.000094	T	0.27559	0.0677	N	0.08118	0	0.80722	D	1	D;P	0.56035	0.974;0.484	P;P	0.51355	0.667;0.557	T	0.09729	-1.0661	9	.	.	.	-15.3548	11.0377	0.47811	0.0:0.0686:0.0:0.9314	.	204;248	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	D	248;204	ENSP00000246070:V248D;ENSP00000406360:V204D	.	V	+	2	0	C20orf103	9458367	1.000000	0.71417	0.996000	0.52242	0.456000	0.32438	5.560000	0.67332	2.367000	0.80283	0.528000	0.53228	GTC		0.517	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		A	9510367	T	A	9510367	3	1	261	1	0	0	0	0	1	0	0	0	2075	1667	58	5	765	5	C20orf103	20	9510367	Missense_Mutation	SNP	T	TCGA-24-1845-01A-01W-0639-09		9510367	53515153	121	14588											
NCOA3	8202	genome.wustl.edu	37	20	46275953	46275977	+	Frame_Shift_Del	DEL	GACAATCACCATCTTTTAACTCTAT	GACAATCACCATCTTTTAACTCTAT	-	rs148268636|rs141376506		TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	GACAATCACCATCTTTTAACTCTAT	GACAATCACCATCTTTTAACTCTAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr20:46275953_46275977delGACAATCACCATCTTTTAACTCTAT	ENST00000371998.3	+	18	3580_3604	c.3389_3413delGACAATCACCATCTTTTAACTCTAT	c.(3388-3414)ggacaatcaccatcttttaactctatgfs	p.GQSPSFNSM1130fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.GQSPSFNSM1060fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.GQSPSFNSM1130fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.GQSPSFNSM1125fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1130	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CATCTTCAGGGACAATCACCATCTTTTAACTCTATGATGAATCAG	0.484																																																0			20																																								45709384	SO:0001589	frameshift_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3389_3413delGACAATCACCATCTTTTAACTCTAT	20.37:g.46275953_46275977delGACAATCACCATCTTTTAACTCTAT	ENSP00000361066:p.Gly1130fs		45709360	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	37	CCDS13407.1																																																																																				0.484	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		-	46275977	GACAATCACCATCTTTTAACTCTAT	-	46275953	7	5	261	1	0	1	0	1	0	0	0	0	10230	1174	41	0	3481	0	NCOA3	20	46275953	Frame_Shift_Del	DEL	GACAATCACCATCTTTTAACTCTAT	TCGA-24-1845-01A-01W-0639-09	36765586	46275953	16749567	122	14589											
CSE1L	1434	genome.wustl.edu	37	20	47686810	47686810	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr20:47686810G>C	ENST00000262982.2	+	8	867	c.744G>C	c.(742-744)ttG>ttC	p.L248F	CSE1L_ENST00000396192.3_Missense_Mutation_p.L248F|CSE1L_ENST00000542325.1_Missense_Mutation_p.L31F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	248					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCTTAACATTGGATAATAAGC	0.303																																																0			20											65	74	71					20																	47686810		2199	4294	6493	47120217	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.744G>C	20.37:g.47686810G>C	ENSP00000262982:p.Leu248Phe		47120217	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155534	0.38021	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.66995	-0.24;-0.24;-0.24	5.64	2.37	0.29283	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	N	0.16478	0.41	0.80722	D	1	B;B;B	0.23937	0.094;0.025;0.055	B;B;B	0.28638	0.063;0.072;0.092	T	0.10941	-1.0608	10	0.11794	T	0.64	-10.6366	8.4142	0.32662	0.5136:0.0:0.4864:0.0	.	31;248;248	B4DUC5;F8W904;P55060	.;.;XPO2_HUMAN	F	14;248;31;248	ENSP00000262982:L248F;ENSP00000446477:L31F;ENSP00000379495:L248F	ENSP00000262982:L248F	L	+	3	2	CSE1L	47120217	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.561000	0.45905	0.277000	0.22141	-0.229000	0.12294	TTG		0.303	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		C	47686810	G	C	47686810	3	2	261	1	0	0	0	0	1	0	0	0	3930	1339	47	3	770	3	CSE1L	20	47686810	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	1410857	47686810	15338710	123	14590											
SERPIND1	3053	genome.wustl.edu	37	22	21134129	21134129	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr22:21134129G>C	ENST00000215727.5	+	2	812	c.529G>C	c.(529-531)Gtg>Ctg	p.V177L	SERPIND1_ENST00000406799.1_Missense_Mutation_p.V177L|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	177					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCATGAACAAGTGCACTCGAT	0.433																																																0			22											110	107	108					22																	21134129		2203	4300	6503	19464129	SO:0001583	missense	3053			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.529G>C	22.37:g.21134129G>C	ENSP00000215727:p.Val177Leu		19464129	B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871963	0.33069	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	T;T	0.81163	-1.46;-1.46	5.81	4.74	0.60224	Serpin domain (3);	0.105782	0.64402	D	0.000004	T	0.63988	0.2558	N	0.05031	-0.125	0.50313	D	0.999864	B;B	0.13145	0.007;0.007	B;B	0.21546	0.035;0.035	T	0.58685	-0.7593	10	0.19590	T	0.45	.	16.373	0.83371	0.0:0.1317:0.8683:0.0	.	177;177	Q8IVC0;P05546	.;HEP2_HUMAN	L	177	ENSP00000215727:V177L;ENSP00000384050:V177L	ENSP00000215727:V177L	V	+	1	0	SERPIND1	19464129	1.000000	0.71417	0.946000	0.38457	0.955000	0.61496	3.556000	0.53734	2.756000	0.94617	0.650000	0.86243	GTG		0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		C	21134129	G	C	21134129	3	2	261	1	0	0	0	0	1	0	0	0	14113	1029	36	3	531	3	SERPIND1	22	21134129	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09		21134129	30170437	124	14591											
EIF3L	51386	genome.wustl.edu	37	22	38273972	38273972	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chr22:38273972C>G	ENST00000412331.2	+	11	1951	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	EIF3L_ENST00000381683.6_Missense_Mutation_p.L409V|EIF3L_ENST00000406934.1_Missense_Mutation_p.L359V	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCAGGCCCAGCTTTCAACCAT	0.547																																																0			22											53	50	51					22																	38273972		2203	4300	6503	36603918	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1369C>G	22.37:g.38273972C>G	ENSP00000416892:p.Leu457Val		36603918		Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	c	12.43	1.934937	0.34189	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.44083	0.93;0.93;0.93	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	M	0.63169	1.94	0.80722	D	1	D;D;P;P	0.55385	0.971;0.971;0.832;0.934	P;P;P;P	0.51701	0.658;0.658;0.544;0.677	T	0.47394	-0.9121	10	0.25751	T	0.34	-29.0663	18.8132	0.92065	0.0:1.0:0.0:0.0	.	409;359;457;500	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	V	457;500;409;424;359	ENSP00000416892:L457V;ENSP00000371099:L409V;ENSP00000384634:L359V	ENSP00000262832:L424V	L	+	1	0	EIF3L	36603918	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.851000	0.69481	2.497000	0.84241	0.443000	0.29094	CTT		0.547	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		G	38273972	C	G	38273972	3	3	261	1	0	0	0	0	1	0	0	0	5022	797	28	3	1411	3	EIF3L	22	38273972	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	17139843	38273972	13030594	125	14592											
BEND2	139105	genome.wustl.edu	37	X	18234816	18234816	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:18234816G>T	ENST00000380033.4	-	2	195	c.63C>A	c.(61-63)aaC>aaA	p.N21K	BEND2_ENST00000380030.3_Missense_Mutation_p.N21K	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	21										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGCAATCATTGTTATCATCAC	0.338																																																0			X											132	101	112					X																	18234816		2203	4300	6503	18144737	SO:0001583	missense	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.63C>A	X.37:g.18234816G>T	ENSP00000369372:p.Asn21Lys		18144737	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	g	10.34	1.324420	0.24080	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.33438	1.48;1.41	3.63	-2.6	0.06190	.	2.076100	0.02777	N	0.120468	T	0.20659	0.0497	N	0.19112	0.55	0.09310	N	1	P;P	0.42827	0.791;0.791	B;B	0.38020	0.263;0.263	T	0.32877	-0.9890	10	0.62326	D	0.03	-0.0569	8.9518	0.35794	0.7177:0.0:0.2823:0.0	.	21;21	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	K	21	ENSP00000369372:N21K;ENSP00000369369:N21K	ENSP00000369369:N21K	N	-	3	2	BEND2	18144737	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.280000	0.02804	-0.788000	0.04504	0.597000	0.82753	AAC		0.338	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		T	18234816	G	T	18234816	3	4	261	1	0	0	0	0	1	0	0	0	1398	1368	48	3	2414	3	BEND2	23	18234816	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09		18234816	137035744	126	14593											
NXF2	728343	genome.wustl.edu	37	X	101624569	101624569	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:101624569G>A	ENST00000372750.1	-	9	1121	c.322C>T	c.(322-324)Ccg>Tcg	p.P108S	NXF2B_ENST00000372749.1_Missense_Mutation_p.P108S|NXF2B_ENST00000412230.2_Missense_Mutation_p.P108S|NXF2B_ENST00000457521.2_Missense_Mutation_p.P108S|NXF2B_ENST00000372752.1_Missense_Mutation_p.P20S			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	108					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						TTTCTCTCCGGAGGTTTTCTA	0.443																																																0			X											3	5	4					X																	101624569		305	821	1126	101511225	SO:0001583	missense	728343				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.322C>T	X.37:g.101624569G>A	ENSP00000361836:p.Pro108Ser		101511225	Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	ENST00000372750.1	37	CCDS43979.1	.	.	.	.	.	.	.	.	.	.	G	5.394	0.257894	0.10239	.	.	ENSG00000185945	ENST00000372752;ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	T;T;T;T;T	0.41400	1.01;1.0;1.0;1.0;1.0	3.34	-0.958	0.10347	.	2.404500	0.02421	N	0.082581	T	0.18299	0.0439	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09143	-1.0688	7	0.09084	T	0.74	1.7695	2.1164	0.03714	0.1215:0.3241:0.3751:0.1793	.	.	.	.	S	20;108;108;108;108	ENSP00000361838:P20S;ENSP00000396447:P108S;ENSP00000361835:P108S;ENSP00000361836:P108S;ENSP00000413087:P108S	ENSP00000361835:P108S	P	-	1	0	NXF2B	101511225	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.164000	0.03135	-0.351000	0.08249	0.377000	0.23210	CCG		0.443	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058979.1			A	101624569	G	A	101624569	3	1	261	1	0	0	0	0	1	0	0	0	10783	1174	41	2	3599	2	NXF2	23	101624569	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	83389753	101624569	53645991	127	14594											
DCX	1641	genome.wustl.edu	37	X	110644255	110644255	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:110644255C>T	ENST00000338081.3	-	3	1082	c.911G>A	c.(910-912)gGg>gAg	p.G304E	DCX_ENST00000356915.2_Missense_Mutation_p.G223E|DCX_ENST00000488120.1_Missense_Mutation_p.G223E|DCX_ENST00000356220.3_Missense_Mutation_p.G223E|DCX_ENST00000371993.2_Missense_Mutation_p.G223E|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	304	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		G -> E (in SBHX). {ECO:0000269|PubMed:9618162}.|G -> V (in SBHX). {ECO:0000269|PubMed:11175293}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTTGACAACCCCGGTCTCCAG	0.428																																																0			X	GRCh37	CM010025|CM980533	DCX	M							116	118	117					X																	110644255		2203	4300	6503	110530911	SO:0001583	missense	1641			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.911G>A	X.37:g.110644255C>T	ENSP00000337697:p.Gly304Glu		110530911	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.21|14.21	2.466690|2.466690	0.43839|0.43839	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120|ENST00000358070	D;D;D;D;D|D	0.97665|0.97688	-4.48;-4.48;-4.48;-4.48;-4.48|-4.49	4.74|4.74	3.88|3.88	0.44766|0.44766	Doublecortin domain (5);|.	0.118288|0.118288	0.56097|0.56097	D|D	0.000029|0.000029	D|D	0.98488|0.98488	0.9496|0.9496	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.995|.	D;D|.	0.83275|.	0.996;0.983|.	D|D	0.98832|0.98832	1.0751|1.0751	10|8	0.66056|0.66056	D|D	0.02|0.02	.|.	12.8965|12.8965	0.58101|0.58101	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	292;304|.	B4DM53;O43602|.	.;DCX_HUMAN|.	E|R	223;223;304;223;223|296	ENSP00000349385:G223E;ENSP00000361061:G223E;ENSP00000337697:G304E;ENSP00000348553:G223E;ENSP00000419861:G223E|ENSP00000350776:G296R	ENSP00000337697:G304E|ENSP00000350776:G296R	G|G	-|-	2|1	0|0	DCX|DCX	110530911|110530911	1.000000|1.000000	0.71417|0.71417	0.836000|0.836000	0.33094|0.33094	0.064000|0.064000	0.16182|0.16182	7.798000|7.798000	0.85924|0.85924	1.081000|1.081000	0.41110|0.41110	-0.191000|-0.191000	0.12829|0.12829	GGG|GGG		0.428	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		T	110644255	C	T	110644255	3	4	261	1	0	0	0	0	1	0	0	0	4318	623	22	2	449	2	DCX	23	110644255	Missense_Mutation	SNP	C	TCGA-24-1845-01A-01W-0639-09	9019686	110644255	44626305	128	14595											
GRIA3	2892	genome.wustl.edu	37	X	122538715	122538715	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:122538715G>T	ENST00000371251.1	+	10	1502	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	GRIA3_ENST00000541091.1_Missense_Mutation_p.D468Y|GRIA3_ENST00000542149.1_Missense_Mutation_p.D484Y|GRIA3_ENST00000264357.5_Missense_Mutation_p.D484Y|GRIA3_ENST00000371256.5_Missense_Mutation_p.D484Y			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	484					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TGGTGCAAGGGATCCAGAGAC	0.393																																																0			X											219	190	200					X																	122538715		2203	4300	6503	122366396	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1450G>T	X.37:g.122538715G>T	ENSP00000360297:p.Asp484Tyr		122366396	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007217	0.75046	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.4	4.54	0.55810	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.88683	0.6503	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	D	0.89983	0.4102	10	0.87932	D	0	.	12.5746	0.56357	0.0822:0.0:0.9178:0.0	.	468;484;484	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	Y	484;484;484;484;468	ENSP00000264357:D484Y;ENSP00000446146:D484Y;ENSP00000360302:D484Y;ENSP00000360297:D484Y;ENSP00000446440:D468Y	ENSP00000264357:D484Y	D	+	1	0	GRIA3	122366396	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.768000	0.74980	1.158000	0.42547	0.506000	0.49869	GAT		0.393	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		T	122538715	G	T	122538715	3	4	261	1	0	0	0	0	1	0	0	0	6769	1174	41	3	1488	3	GRIA3	23	122538715	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	11894460	122538715	32731845	129	14596											
IGSF1	3547	genome.wustl.edu	37	X	130408643	130408643	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:130408643G>C	ENST00000361420.3	-	18	3760	c.3681C>G	c.(3679-3681)agC>agG	p.S1227R	IGSF1_ENST00000370903.3_Missense_Mutation_p.S1232R|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.S1218R|IGSF1_ENST00000370904.1_Missense_Mutation_p.S1218R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1227	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGAGGCGGTAGCTGCAGCTGT	0.507																																																0			X											189	173	178					X																	130408643		2203	4300	6503	130236324	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3681C>G	X.37:g.130408643G>C	ENSP00000355010:p.Ser1227Arg		130236324	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675145	0.47781	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.62	3.84	0.44239	Immunoglobulin-like fold (1);	0.196491	0.36972	N	0.002318	T	0.13329	0.0323	N	0.10809	0.05	0.33991	D	0.649159	B;B;D	0.71674	0.222;0.379;0.998	B;B;D	0.79784	0.284;0.351;0.993	T	0.21999	-1.0229	10	0.87932	D	0	.	6.955	0.24565	0.2064:0.0:0.7936:0.0	.	1218;671;1227	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	1218;1227;1218;1232	ENSP00000359947:S1218R;ENSP00000355010:S1227R;ENSP00000359941:S1218R;ENSP00000359940:S1232R	ENSP00000355010:S1227R	S	-	3	2	IGSF1	130236324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.613000	0.24299	1.262000	0.44165	0.594000	0.82650	AGC		0.507	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			C	130408643	G	C	130408643	3	2	261	1	0	0	0	0	1	0	0	0	7596	962	34	3	341	3	IGSF1	23	130408643	Missense_Mutation	SNP	G	TCGA-24-1845-01A-01W-0639-09	7869928	130408643	24861917	130	14597											
SLITRK4	139065	genome.wustl.edu	37	X	142717105	142717105	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1845-01A-01W-0639-09	TCGA-24-1845-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3	8ceff811-6278-4a0b-9abb-8640ba4e7fee	g.chrX:142717105A>G	ENST00000381779.4	-	2	2045	c.1820T>C	c.(1819-1821)aTt>aCt	p.I607T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.I607T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.I607T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	607						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTTCGAATGGGACCCAA	0.428																																																0			X											87	90	89					X																	142717105		2202	4300	6502	142544771	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1820T>C	X.37:g.142717105A>G	ENSP00000371198:p.Ile607Thr		142544771	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	A	1.218	-0.627785	0.03610	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52526	0.66;0.66;0.66	5.49	5.49	0.81192	.	0.189279	0.45867	U	0.000330	T	0.28267	0.0698	N	0.12182	0.205	0.40543	D	0.981042	B	0.06786	0.001	B	0.06405	0.002	T	0.13926	-1.0491	10	0.10902	T	0.67	-9.2383	13.3335	0.60503	1.0:0.0:0.0:0.0	.	607	Q8IW52	SLIK4_HUMAN	T	607	ENSP00000371198:I607T;ENSP00000349400:I607T;ENSP00000336627:I607T	ENSP00000336627:I607T	I	-	2	0	SLITRK4	142544771	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	4.532000	0.60608	1.831000	0.53308	0.486000	0.48141	ATT		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		G	142717105	A	G	142717105	3	3	261	1	0	0	0	0	1	0	0	0	14748	101	4	4	697	4	SLITRK4	23	142717105	Missense_Mutation	SNP	A	TCGA-24-1845-01A-01W-0639-09	12308462	142717105	12553455	131	14598											
CLCN6	1185	genome.wustl.edu	37	1	11888645	11888645	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:11888645G>A	ENST00000346436.6	+	12	1137	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	CLCN6_ENST00000376487.3_Missense_Mutation_p.R340H|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376496.3_Missense_Mutation_p.R362H	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	362					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAAGTACCGTATGCGAAAC	0.592																																																0			1											144	151	149					1																	11888645		2203	4300	6503	11811232	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1085G>A	1.37:g.11888645G>A	ENSP00000234488:p.Arg362His		11811232	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	36	5.744118	0.96882	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.94650	-3.48;-3.48;-3.48	6.17	6.17	0.99709	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98141	1.0436	10	0.66056	D	0.02	-17.9254	19.8676	0.96824	0.0:0.0:1.0:0.0	.	340;362	F8W9R3;P51797	.;CLCN6_HUMAN	H	362;340;362	ENSP00000234488:R362H;ENSP00000365670:R340H;ENSP00000365679:R362H	ENSP00000234488:R362H	R	+	2	0	CLCN6	11811232	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGT		0.592	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		A	11888645	G	A	11888645	3	1	262	1	0	0	0	0	1	0	0	0	3467	1145	40	1	1141	1	CLCN6	1	11888645	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09		11888645	237361976	1	14599											
TXNDC12	51060	genome.wustl.edu	37	1	52494286	52494286	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:52494286C>G	ENST00000371626.4	-	3	1249	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L		NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	59					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	TGAATAATCACCATCAGGGGC	0.299																																																0			1											84	82	83					1																	52494286		2203	4300	6503	52266874	SO:0001583	missense	51060			AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"Protein disulfide isomerases"	24626	protein-coding gene	gene with protein product	"endoplasmic reticulum thioredoxin superfamily member, 18 kDa", "anterior gradient homolog 1 (Xenopus laevis)", "protein disulfide isomerase family A, member 16"	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.175G>C	1.37:g.52494286C>G	ENSP00000360688:p.Val59Leu		52266874	B3KQS0|Q5T1T4|Q96H50	Missense_Mutation	SNP	ENST00000371626.4	37	CCDS561.1	.	.	.	.	.	.	.	.	.	.	C	6.622	0.483172	0.12581	.	.	ENSG00000117862	ENST00000371626	T	0.54071	0.59	5.6	5.6	0.85130	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.129390	0.51477	D	0.000092	T	0.34424	0.0897	N	0.25245	0.725	0.44825	D	0.997836	B	0.06786	0.001	B	0.12156	0.007	T	0.16748	-1.0392	10	0.02654	T	1	.	13.1476	0.59472	0.0:0.9237:0.0:0.0763	.	59	O95881	TXD12_HUMAN	L	59	ENSP00000360688:V59L	ENSP00000360688:V59L	V	-	1	0	TXNDC12	52266874	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.499000	0.53310	2.622000	0.88805	0.655000	0.94253	GTG		0.299	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023818.1	NM_015913		G	52494286	C	G	52494286	3	3	262	1	0	0	0	0	1	0	0	0	16793	507	18	3	363	3	TXNDC12	1	52494286	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	40605641	52494286	196756335	2	14600											
BTF3L4	91408	genome.wustl.edu	37	1	52552386	52552386	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:52552386C>A	ENST00000313334.8	+	6	701	c.433C>A	c.(433-435)Ctt>Att	p.L145I	BTF3L4_ENST00000472944.2_Missense_Mutation_p.L87I|BTF3L4_ENST00000489308.2_Silent_p.I77I	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	145										endometrium(2)|kidney(1)|large_intestine(2)	5						TTTTTCAGATCTTGTAGAAAA	0.308																																																0			1											58	61	60					1																	52552386		2201	4299	6500	52324974	SO:0001583	missense	91408			BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.433C>A	1.37:g.52552386C>A	ENSP00000360664:p.Leu145Ile		52324974	B3KNJ1|D3DQ32|G3V1C6	Missense_Mutation	SNP	ENST00000313334.8	37	CCDS30713.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301802	0.60195	.	.	ENSG00000134717	ENST00000313334;ENST00000472944	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.86651	2.83	0.80722	D	1	B	0.27594	0.182	B	0.27380	0.079	T	0.75391	-0.3334	9	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	145	Q96K17	BT3L4_HUMAN	I	145;87	.	ENSP00000360664:L145I	L	+	1	0	BTF3L4	52324974	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.221000	0.78016	2.687000	0.91594	0.655000	0.94253	CTT		0.308	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024848.1	NM_152265		A	52552386	C	A	52552386	3	1	262	1	0	0	0	0	1	0	0	0	1552	913	32	3	451	3	BTF3L4	1	52552386	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	58100	52552386	196698235	3	14601											
NEXN	91624	genome.wustl.edu	37	1	78383912	78383928	+	Frame_Shift_Del	DEL	TAGAAAAGAGGAAAATA	TAGAAAAGAGGAAAATA	-			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	TAGAAAAGAGGAAAATA	TAGAAAAGAGGAAAATA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:78383912_78383928delTAGAAAAGAGGAAAATA	ENST00000334785.7	+	5	585_601	c.401_417delTAGAAAAGAGGAAAATA	c.(400-417)ttagaaaagaggaaaatafs	p.LEKRKI134fs	NEXN_ENST00000457030.1_Frame_Shift_Del_p.LEKRKI134fs|NEXN_ENST00000330010.8_Frame_Shift_Del_p.LEKRKI70fs|NEXN_ENST00000294624.8_Frame_Shift_Del_p.LEKRKI134fs	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CAGGATATGTTAGAAAAGAGGAAAATACAGCGTGAAT	0.378																																																0			1																																								78156516	SO:0001589	frameshift_variant	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.401_417delTAGAAAAGAGGAAAATA	1.37:g.78383912_78383928delTAGAAAAGAGGAAAATA	ENSP00000333938:p.Leu134fs		78156500		Frame_Shift_Del	DEL	ENST00000334785.7	37	CCDS41351.1																																																																																				0.378	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		-	78383928	TAGAAAAGAGGAAAATA	-	78383912	7	5	262	1	0	1	0	1	0	0	0	0	10355	1764	61	0	415	0	NEXN	1	78383912	Frame_Shift_Del	DEL	TAGAAAAGAGGAAAATA	TCGA-24-1846-01A-01W-0639-09	25831526	78383912	170866709	4	14602			1	11		2	2	19	N	TAGAAAAGAGGAAAATA_AGCGTGAATT	6.105111e-05
NEXN	91624	genome.wustl.edu	37	1	78383930	78383939	+	Frame_Shift_Del	DEL	AGCGTGAATT	AGCGTGAATT	-	rs536537549		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	AGCGTGAATT	AGCGTGAATT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:78383930_78383939delAGCGTGAATT	ENST00000334785.7	+	5	603_612	c.419_428delAGCGTGAATT	c.(418-429)cagcgtgaattafs	p.QREL140fs	NEXN_ENST00000457030.1_Frame_Shift_Del_p.QREL140fs|NEXN_ENST00000330010.8_Frame_Shift_Del_p.QREL76fs|NEXN_ENST00000294624.8_Frame_Shift_Del_p.QREL140fs	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGGAAAATACAGCGTGAATTAGCAAAAAGG	0.371																																																0			1																																								78156527	SO:0001589	frameshift_variant	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.419_428delAGCGTGAATT	1.37:g.78383930_78383939delAGCGTGAATT	ENSP00000333938:p.Gln140fs		78156518		Frame_Shift_Del	DEL	ENST00000334785.7	37	CCDS41351.1																																																																																				0.371	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		-	78383939	AGCGTGAATT	-	78383930	7	5	262	1	0	1	0	1	0	0	0	0	10355	188	7	0	433	0	NEXN	1	78383930	Frame_Shift_Del	DEL	AGCGTGAATT	TCGA-24-1846-01A-01W-0639-09	18	78383930	170866691	5	14603			1	11		2	2	19	N	TAGAAAAGAGGAAAATA_AGCGTGAATT	6.105111e-05
GFI1	2672	genome.wustl.edu	37	1	92948578	92948578	+	Silent	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:92948578C>G	ENST00000370332.1	-	3	459	c.141G>C	c.(139-141)gcG>gcC	p.A47A	GFI1_ENST00000427103.1_Silent_p.A47A|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000294702.5_Silent_p.A47A	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	47					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GCTCCGCCTTCGCCCCGCCTG	0.657																																																0			1											30	38	35					1																	92948578		2199	4298	6497	92721166	SO:0001819	synonymous_variant	2672			U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"Zinc fingers, C2H2-type"	4237	protein-coding gene	gene with protein product		600871	"growth factor independent 1"	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.141G>C	1.37:g.92948578C>G			92721166	Q8N564	Silent	SNP	ENST00000370332.1	37	CCDS30773.1																																																																																				0.657	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		G	92948578	C	G	92948578	2	3	262	1	0	0	0	0	0	0	0	1	6339	871	31	3		3	GFI1	1	92948578	Silent	SNP	C	TCGA-24-1846-01A-01W-0639-09	14564648	92948578	156302043	6	14604											
CD101	9398	genome.wustl.edu	37	1	117552471	117552471	+	Splice_Site	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:117552471G>A	ENST00000256652.4	+	2	101		c.e2-1		CD101_ENST00000369470.1_Splice_Site	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule						cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTACTTACAAGCTAAGCTCAG	0.423																																																0			1											70	72	71					1																	117552471		2203	4300	6503	117353994	SO:0001630	splice_region_variant	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.44-1G>A	1.37:g.117552471G>A			117353994	Q15856	Splice_Site	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826347	0.32329	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD101	117353994	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	5.316000	0.65815	2.733000	0.93635	0.655000	0.94253	.		0.423	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	Intron	A	117552471	G	A	117552471	5	1	262	1	0	0	0	0	0	0	1	0	2962	985	34	2	49	2	CD101	1	117552471	Splice_Site	SNP	G	TCGA-24-1846-01A-01W-0639-09	24603893	117552471	131698150	7	14605											
MIA3	375056	genome.wustl.edu	37	1	222803200	222803200	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:222803200C>T	ENST00000344922.5	+	4	2663	c.2638C>T	c.(2638-2640)Cat>Tat	p.H880Y	MIA3_ENST00000344441.6_Missense_Mutation_p.H880Y|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	880					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAAAGAGGACCATGAGAACAC	0.493																																																0			1											35	35	35					1																	222803200		1921	4128	6049	220869823	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2638C>T	1.37:g.222803200C>T	ENSP00000340900:p.His880Tyr		220869823	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.93|10.93	1.489680|1.489680	0.26686|0.26686	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.04234|.	3.67;3.67|.	4.81|4.81	1.52|1.52	0.23074|0.23074	.|.	.|.	.|.	.|.	.|.	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P|.	0.37141|.	0.28;0.584|.	B;B|.	0.31495|.	0.131;0.089|.	T|T	0.23048|0.23048	-1.0199|-1.0199	9|5	0.05959|.	T|.	0.93|.	.|.	5.1717|5.1717	0.15114|0.15114	0.1319:0.5095:0.2761:0.0825|0.1319:0.5095:0.2761:0.0825	.|.	880;880|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	Y|L	880|462	ENSP00000340900:H880Y;ENSP00000340587:H880Y|.	ENSP00000325973:H880Y|.	H|P	+|+	1|2	0|0	MIA3|MIA3	220869823|220869823	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	0.292000|0.292000	0.19011|0.19011	0.508000|0.508000	0.28173|0.28173	0.457000|0.457000	0.33378|0.33378	CAT|CCA		0.493	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		T	222803200	C	T	222803200	3	4	262	1	0	0	0	0	1	0	0	0	9565	594	21	2	2652	2	MIA3	1	222803200	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	105250729	222803200	26447421	8	14606											
OBSCN	84033	genome.wustl.edu	37	1	228474577	228474577	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:228474577C>G	ENST00000422127.1	+	35	9425	c.9381C>G	c.(9379-9381)tgC>tgG	p.C3127W	OBSCN_ENST00000284548.11_Missense_Mutation_p.C3127W|OBSCN_ENST00000366707.4_Missense_Mutation_p.C246W|OBSCN_ENST00000570156.2_Missense_Mutation_p.C3556W|OBSCN_ENST00000359599.6_Missense_Mutation_p.C1974W|OBSCN_ENST00000366709.4_Missense_Mutation_p.C246W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3127	Ig-like 31.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTCCTGTGTGCTGGACCAAGG	0.652																																																0			1											45	52	50					1																	228474577		2056	4180	6236	226541200	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9381C>G	1.37:g.228474577C>G	ENSP00000409493:p.Cys3127Trp		226541200	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152637	0.38021	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.08	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.818338	0.11036	N	0.606703	T	0.70263	0.3204	L	0.39020	1.185	0.43039	D	0.994627	P;P	0.47841	0.901;0.88	D;B	0.66602	0.945;0.267	T	0.67998	-0.5525	10	0.66056	D	0.02	.	4.0153	0.09641	0.1541:0.5881:0.1701:0.0878	.	3127;3127	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	3127;3127;246;246;1974	ENSP00000284548:C3127W;ENSP00000409493:C3127W;ENSP00000355668:C246W;ENSP00000355670:C246W;ENSP00000352613:C1974W	ENSP00000284548:C3127W	C	+	3	2	OBSCN	226541200	0.693000	0.27728	0.926000	0.36857	0.082000	0.17680	0.936000	0.28938	1.368000	0.46115	0.491000	0.48974	TGC		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228474577	C	G	228474577	3	3	262	1	0	0	0	0	1	0	0	0	10812	805	28	3	9515	3	OBSCN	1	228474577	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	5671377	228474577	20776044	9	14607											
ADSS	159	genome.wustl.edu	37	1	244595862	244595862	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:244595862C>G	ENST00000366535.3	-	4	707	c.391G>C	c.(391-393)Gac>Cac	p.D131H		NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TGAGCTCTGTCAGATATAATA	0.264																																																0			1											62	70	67					1																	244595862		2200	4275	6475	242662485	SO:0001583	missense	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.391G>C	1.37:g.244595862C>G	ENSP00000355493:p.Asp131His		242662485		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510292	0.85282	.	.	ENSG00000035687	ENST00000366535;ENST00000449326;ENST00000430700	T	0.46063	0.88	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75499	-0.3296	10	0.87932	D	0	-21.8828	19.5502	0.95314	0.0:1.0:0.0:0.0	.	131	P30520	PURA2_HUMAN	H	131;110;71	ENSP00000355493:D131H	ENSP00000355493:D131H	D	-	1	0	ADSS	242662485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.112000	0.77086	2.792000	0.96026	0.557000	0.71058	GAC		0.264	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		G	244595862	C	G	244595862	3	3	262	1	0	0	0	0	1	0	0	0	347	826	29	3	1019	3	ADSS	1	244595862	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	16121285	244595862	4654759	10	14608											
OR2B11	127623	genome.wustl.edu	37	1	247614820	247614820	+	Silent	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:247614820A>G	ENST00000318749.6	-	1	488	c.465T>C	c.(463-465)agT>agC	p.S155S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGCCGAAGCCACTGAGCCAGG	0.617																																																0			1											61	51	54					1																	247614820		2203	4300	6503	245681443	SO:0001819	synonymous_variant	127623				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.465T>C	1.37:g.247614820A>G			245681443	B2RP03	Silent	SNP	ENST00000318749.6	37	CCDS31090.1																																																																																				0.617	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		G	247614820	A	G	247614820	2	3	262	1	0	0	0	0	0	0	0	1	10988	156	6	4		4	OR2B11	1	247614820	Silent	SNP	A	TCGA-24-1846-01A-01W-0639-09	3018958	247614820	1635801	11	14609											
GREB1	9687	genome.wustl.edu	37	2	11752706	11752706	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:11752706G>A	ENST00000381486.2	+	19	3392	c.3092G>A	c.(3091-3093)gGg>gAg	p.G1031E	GREB1_ENST00000234142.5_Missense_Mutation_p.G1031E|GREB1_ENST00000396123.1_Missense_Mutation_p.G29E	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1031						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATCTTCAGTGGGATGGACCCG	0.582																																					Ovarian(39;850 945 2785 23371 33093)											0			2											126	124	124					2																	11752706		1963	4150	6113	11670157	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3092G>A	2.37:g.11752706G>A	ENSP00000370896:p.Gly1031Glu		11670157	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056651	0.93793	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.75938	-0.98;-0.98;1.52	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86337	0.1702	10	0.52906	T	0.07	-0.9061	19.8101	0.96543	0.0:0.0:1.0:0.0	.	1031	Q4ZG55	GREB1_HUMAN	E	1031;1031;29	ENSP00000370896:G1031E;ENSP00000234142:G1031E;ENSP00000379429:G29E	ENSP00000234142:G1031E	G	+	2	0	GREB1	11670157	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.084000	0.94076	2.696000	0.92011	0.655000	0.94253	GGG		0.582	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11752706	G	A	11752706	3	1	262	1	0	0	0	0	1	0	0	0	6760	1232	43	2	3270	2	GREB1	2	11752706	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09		11752706	231446667	12	14610											
MEMO1	51072	genome.wustl.edu	37	2	32143091	32143091	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:32143091C>G	ENST00000295065.5	-	5	650	c.341G>C	c.(340-342)tGg>tCg	p.W114S	MEMO1_ENST00000379383.3_Missense_Mutation_p.W117S|MEMO1_ENST00000426310.2_Missense_Mutation_p.W91S|MEMO1_ENST00000404530.1_Missense_Mutation_p.W114S|AL121652.1_ENST00000408399.1_RNA|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	114					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TCCTGTCTTCCACAGTTCTCC	0.353																																																0			2											73	66	68					2																	32143091		2203	4300	6503	31996595	SO:0001583	missense	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"chromosome 2 open reading frame 4"	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.341G>C	2.37:g.32143091C>G	ENSP00000295065:p.Trp114Ser		31996595	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584932	0.28268	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	N	0.25144	0.715	0.80722	D	1	B;B	0.17667	0.005;0.023	B;B	0.12837	0.003;0.008	T	0.46762	-0.9168	9	0.06891	T	0.86	-4.729	19.7614	0.96319	0.0:1.0:0.0:0.0	.	91;114	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	S	114;117;114;91	.	ENSP00000295065:W114S	W	-	2	0	MEMO1	31996595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.727000	0.68523	2.773000	0.95371	0.585000	0.79938	TGG		0.353	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		G	32143091	C	G	32143091	3	3	262	1	0	0	0	0	1	0	0	0	9471	595	21	3	572	3	MEMO1	2	32143091	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	20390385	32143091	211056282	13	14611											
DPP4	1803	genome.wustl.edu	37	2	162891749	162891749	+	Silent	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:162891749G>A	ENST00000360534.3	-	9	1259	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	233					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CAATAAGTGGGACTTCTGTGT	0.453																																																0			2											125	117	120					2																	162891749		2203	4300	6503	162599995	SO:0001819	synonymous_variant	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.699C>T	2.37:g.162891749G>A			162599995	Q53TN1	Silent	SNP	ENST00000360534.3	37	CCDS2216.1																																																																																				0.453	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			A	162891749	G	A	162891749	2	1	262	1	0	0	0	0	0	0	0	1	4729	1161	41	2		2	DPP4	2	162891749	Silent	SNP	G	TCGA-24-1846-01A-01W-0639-09	130748658	162891749	80307624	14	14612											
TTN	7273	genome.wustl.edu	37	2	179428789	179428789	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:179428789G>T	ENST00000591111.1	-	276	77371	c.77147C>A	c.(77146-77148)aCa>aAa	p.T25716K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T18417K|TTN_ENST00000460472.2_Missense_Mutation_p.T18292K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T27357K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T18484K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T24789K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25716	Ig-like 125.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAGACTTTGTACCACCAAC	0.418																																																0			2											140	136	138					2																	179428789		1858	4110	5968	179137035	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77147C>A	2.37:g.179428789G>T	ENSP00000465570:p.Thr25716Lys		179137035	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.22	2.170901	0.38315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75503	0.3858	L	0.43923	1.385	0.58432	D	0.999997	D;D;D;D	0.76494	0.997;0.997;0.997;0.999	D;D;D;D	0.72338	0.939;0.939;0.939;0.977	T	0.75054	-0.3453	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	18292;18417;18484;25716	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	24789;18292;18484;18417;18290	ENSP00000343764:T24789K;ENSP00000434586:T18292K;ENSP00000340554:T18484K;ENSP00000352154:T18417K	ENSP00000340554:T18484K	T	-	2	0	TTN	179137035	1.000000	0.71417	0.723000	0.30687	0.995000	0.86356	4.528000	0.60580	2.937000	0.99478	0.650000	0.86243	ACA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179428789	G	T	179428789	3	4	262	1	0	0	0	0	1	0	0	0	16735	1377	48	3	26057	3	TTN	2	179428789	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	16537040	179428789	63770584	15	14613											
TTN	7273	genome.wustl.edu	37	2	179584365	179584365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:179584365C>A	ENST00000591111.1	-	80	23127	c.22903G>T	c.(22903-22905)Gaa>Taa	p.E7635*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.E7952*|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.E6708*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13185	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTCATTTCGGCACAGGGG	0.403																																																0			2											168	162	164					2																	179584365		1870	4108	5978	179292610	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22903G>T	2.37:g.179584365C>A	ENSP00000465570:p.Glu7635*		179292610	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	59	34.459123	0.99982	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	6708	.	ENSP00000343764:E6708X	E	-	1	0	TTN	179292610	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	3.237000	0.51344	2.894000	0.99253	0.655000	0.94253	GAA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179584365	C	A	179584365	4	1	262	1	0	0	0	0	0	1	0	0	16735	893	31	3	80799	3	TTN	2	179584365	Nonsense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	155576	179584365	63615008	16	14614											
SLC23A3	151295	genome.wustl.edu	37	2	220034329	220034329	+	Silent	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:220034329T>C	ENST00000409878.3	-	2	266	c.234A>G	c.(232-234)ggA>ggG	p.G78G	SLC23A3_ENST00000396775.3_Silent_p.G20G|SLC23A3_ENST00000295738.7_Silent_p.G78G|SLC23A3_ENST00000455516.2_Silent_p.G78G	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	78					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTAAGAGAGTCCTCCTGGGG	0.562																																																0			2											78	92	88					2																	220034329		2017	4186	6203	219742573	SO:0001819	synonymous_variant	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.234A>G	2.37:g.220034329T>C			219742573	B7Z512|Q2PYN6|Q96NA6	Silent	SNP	ENST00000409878.3	37	CCDS46518.1																																																																																				0.562	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		C	220034329	T	C	220034329	2	2	262	1	0	0	0	0	0	0	0	1	14467	1654	58	4		4	SLC23A3	2	220034329	Silent	SNP	T	TCGA-24-1846-01A-01W-0639-09	40449964	220034329	23165044	17	14615											
DOCK10	55619	genome.wustl.edu	37	2	225639678	225639678	+	Missense_Mutation	SNP	G	G	A	rs527546362		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:225639678G>A	ENST00000258390.7	-	52	6024	c.5957C>T	c.(5956-5958)tCg>tTg	p.S1986L	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1980L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1986	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTCTTGCCCGACAGCGTGAA	0.567													G|||	1	0.000199681	0	0	5008	,	,		20816	0		0.001	False		,,,				2504	0															0			2											51	55	54					2																	225639678		2103	4226	6329	225347922	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5957C>T	2.37:g.225639678G>A	ENSP00000258390:p.Ser1986Leu		225347922	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502007	0.64298	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.18810	2.19;2.19	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	M	0.86502	2.82	0.54753	D	0.999989	D;D;P	0.89917	1.0;0.999;0.628	D;D;B	0.77557	0.99;0.955;0.189	T	0.59768	-0.7392	10	0.59425	D	0.04	.	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1986;1980;648	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	L	1980;1986;493	ENSP00000386694:S1980L;ENSP00000258390:S1986L	ENSP00000258390:S1986L	S	-	2	0	DOCK10	225347922	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	7.809000	0.86057	2.724000	0.93272	0.563000	0.77884	TCG		0.567	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			A	225639678	G	A	225639678	3	1	262	1	0	0	0	0	1	0	0	0	4685	1059	37	1	623	1	DOCK10	2	225639678	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	5605349	225639678	17559695	18	14616											
CAB39	51719	genome.wustl.edu	37	2	231683258	231683258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:231683258C>T	ENST00000258418.5	+	9	1294	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	CAB39_ENST00000409788.3_Nonsense_Mutation_p.Q289*|CAB39_ENST00000410084.3_Nonsense_Mutation_p.Q289*	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	289					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TAACAAGACGCAGCCCATCCT	0.522																																																0			2											102	79	87					2																	231683258		2203	4300	6503	231391502	SO:0001587	stop_gained	51719			AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.865C>T	2.37:g.231683258C>T	ENSP00000258418:p.Gln289*		231391502	A8K8L7	Nonsense_Mutation	SNP	ENST00000258418.5	37	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	C	41	9.124642	0.99073	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	.	.	.	5.57	5.57	0.84162	.	0.051375	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	17.0642	0.86555	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000258418:Q289X	Q	+	1	0	CAB39	231391502	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.783000	0.85696	2.622000	0.88805	0.655000	0.94253	CAG		0.522	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		T	231683258	C	T	231683258	4	4	262	1	0	0	0	0	0	1	0	0	2525	711	25	2	895	2	CAB39	2	231683258	Nonsense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	6043580	231683258	11516115	19	14617											
COLQ	8292	genome.wustl.edu	37	3	15497416	15497416	+	Silent	SNP	G	G	A	rs548322139		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:15497416G>A	ENST00000383788.5	-	15	1310	c.1185C>T	c.(1183-1185)gaC>gaT	p.D395D	COLQ_ENST00000383787.2_Silent_p.D386D|COLQ_ENST00000383781.4_Silent_p.D385D|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Silent_p.D395D|COLQ_ENST00000435459.2_Silent_p.D385D|COLQ_ENST00000383786.5_Silent_p.D361D	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	395					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GGATGCAGTCGTCACCCACAT	0.632													G|||	1	0.000199681	0	0	5008	,	,		19299	0		0.001	False		,,,				2504	0															0			3											88	67	74					3																	15497416		2203	4300	6503	15472420	SO:0001819	synonymous_variant	8292			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen"	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.1185C>T	3.37:g.15497416G>A			15472420	B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	ENST00000383788.5	37	CCDS33709.1																																																																																				0.632	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		A	15497416	G	A	15497416	2	1	262	1	0	0	0	0	0	0	0	1	3713	1136	40	1		1	COLQ	3	15497416	Silent	SNP	G	TCGA-24-1846-01A-01W-0639-09		15497416	182525014	20	14618											
FBXW12	285231	genome.wustl.edu	37	3	48419877	48419908	+	Frame_Shift_Del	DEL	ATCTCGCCATCACTATGGATCGGAAAAAAACT	ATCTCGCCATCACTATGGATCGGAAAAAAACT	-	rs79525977|rs565146206|rs577053960|rs6442117|rs372841013	byFrequency	TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	ATCTCGCCATCACTATGGATCGGAAAAAAACT	ATCTCGCCATCACTATGGATCGGAAAAAAACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:48419877_48419908delATCTCGCCATCACTATGGATCGGAAAAAAACT	ENST00000296438.5	+	6	662_693	c.476_507delATCTCGCCATCACTATGGATCGGAAAAAAACT	c.(475-507)catctcgccatcactatggatcggaaaaaaactfs	p.HLAITMDRKKT159fs	RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Frame_Shift_Del_p.HLAITMDRKKT2fs|FBXW12_ENST00000445170.1_Frame_Shift_Del_p.HLAITMDRKKT140fs|FBXW12_ENST00000415155.1_Intron	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	159										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTCAGATGCATCTCGCCATCACTATGGATCGGAAAAAAACTATCAAAGTGT	0.491																																																0			3																																								48394912	SO:0001589	frameshift_variant	285231			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.476_507delATCTCGCCATCACTATGGATCGGAAAAAAACT	3.37:g.48419877_48419908delATCTCGCCATCACTATGGATCGGAAAAAAACT	ENSP00000296438:p.His159fs		48394881	E9PG36|Q494Y9|Q494Z0	Frame_Shift_Del	DEL	ENST00000296438.5	37	CCDS2764.1																																																																																				0.491	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		-	48419908	ATCTCGCCATCACTATGGATCGGAAAAAAACT	-	48419877	7	5	262	1	0	1	0	1	0	0	0	0	5765	217	8	0	531	0	FBXW12	3	48419877	Frame_Shift_Del	DEL	ATCTCGCCATCACTATGGATCGGAAAAAAACT	TCGA-24-1846-01A-01W-0639-09	32922461	48419877	149602553	21	14619											
IP6K2	51447	genome.wustl.edu	37	3	48732550	48732564	+	In_Frame_Del	DEL	TCTCAGCAGGGAGGG	TCTCAGCAGGGAGGG	-	rs34911461		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	TCTCAGCAGGGAGGG	TCTCAGCAGGGAGGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:48732550_48732564delTCTCAGCAGGGAGGG	ENST00000328631.5	-	2	384_398	c.161_175delCCCTCCCTGCTGAGA	c.(160-177)accctccctgctgagatg>atg	p.TLPAE54del	IP6K2_ENST00000446860.1_In_Frame_Del_p.TLPAE112del|IP6K2_ENST00000450045.1_In_Frame_Del_p.TLPAE108del|IP6K2_ENST00000453202.1_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000417896.1_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000431721.2_In_Frame_Del_p.TLPAE109del|IP6K2_ENST00000443964.1_In_Frame_Del_p.TLPAE113del|IP6K2_ENST00000413298.1_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000449610.1_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000340879.4_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000432678.2_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000436134.1_5'UTR	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	54					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AATTTGCGCATCTCAGCAGGGAGGGTCTCGTAGAA	0.591																																																0			3																																								48707568	SO:0001651	inframe_deletion	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.161_175delCCCTCCCTGCTGAGA	3.37:g.48732550_48732564delTCTCAGCAGGGAGGG	ENSP00000331103:p.Thr54_Glu58del		48707554	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	In_Frame_Del	DEL	ENST00000328631.5	37	CCDS2777.1																																																																																				0.591	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		-	48732564	TCTCAGCAGGGAGGG	-	48732550	7	5	262	1	0	1	0	1	0	0	0	0	7789	1435	50	0	1478	0	IP6K2	3	48732550	In_Frame_Del	DEL	TCTCAGCAGGGAGGG	TCGA-24-1846-01A-01W-0639-09	312673	48732550	149289880	22	14620											
IP6K2	51447	genome.wustl.edu	37	3	48732676	48732676	+	Frame_Shift_Del	DEL	C	C	-	rs57768168	byFrequency	TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:48732676delC	ENST00000328631.5	-	2	272	c.49delG	c.(49-51)gtcfs	p.V17fs	IP6K2_ENST00000446860.1_Frame_Shift_Del_p.V75fs|IP6K2_ENST00000450045.1_Frame_Shift_Del_p.V71fs|IP6K2_ENST00000453202.1_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000417896.1_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000431721.2_Frame_Shift_Del_p.V72fs|IP6K2_ENST00000443964.1_Frame_Shift_Del_p.V76fs|IP6K2_ENST00000413298.1_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000449610.1_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000340879.4_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000432678.2_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000436134.1_5'UTR	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	17					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCCAGAAGGACGCCTTTGGCG	0.662																																																0			3											55	57	56					3																	48732676		2203	4300	6503	48707680	SO:0001589	frameshift_variant	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.49delG	3.37:g.48732676delC	ENSP00000331103:p.Val17fs		48707680	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Frame_Shift_Del	DEL	ENST00000328631.5	37	CCDS2777.1																																																																																				0.662	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		-	48732676	C	-	48732676	7	5	262	1	0	1	0	1	0	0	0	0	7789	536	19	0	1604	0	IP6K2	3	48732676	Frame_Shift_Del	DEL	C	TCGA-24-1846-01A-01W-0639-09	126	48732676	149289754	23	14621											
COL8A1	1295	genome.wustl.edu	37	3	99514871	99514871	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:99514871G>A	ENST00000261037.3	+	5	2506	c.2126G>A	c.(2125-2127)aGg>aAg	p.R709K	COL8A1_ENST00000273342.4_Missense_Mutation_p.R709K	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	709	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CTGCTGCTCAGGCCCGGAGAC	0.537																																																0			3											43	41	42					3																	99514871		2203	4300	6503	100997561	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2126G>A	3.37:g.99514871G>A	ENSP00000261037:p.Arg709Lys		100997561	D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716830	0.15306	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.85339	-1.97;-1.97	6.08	4.3	0.51218	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.258546	0.41823	D	0.000809	T	0.56992	0.2023	N	0.01128	-1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.48747	-0.9008	10	0.13108	T	0.6	.	6.0599	0.19832	0.1541:0.0:0.6952:0.1506	.	710;709	E7EPK9;P27658	.;CO8A1_HUMAN	K	709	ENSP00000261037:R709K;ENSP00000273342:R709K	ENSP00000261037:R709K	R	+	2	0	COL8A1	100997561	0.997000	0.39634	0.583000	0.28640	0.996000	0.88848	2.592000	0.46171	0.911000	0.36747	0.591000	0.81541	AGG		0.537	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		A	99514871	G	A	99514871	3	1	262	1	0	0	0	0	1	0	0	0	3705	1000	35	2	2132	2	COL8A1	3	99514871	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	50782195	99514871	98507559	24	14622											
ATP2C1	27032	genome.wustl.edu	37	3	130718397	130718397	+	Silent	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:130718397T>C	ENST00000510168.1	+	27	3073	c.2523T>C	c.(2521-2523)aaT>aaC	p.N841N	ATP2C1_ENST00000533801.2_Silent_p.N836N|ATP2C1_ENST00000507488.2_Silent_p.N825N|ATP2C1_ENST00000504381.1_Silent_p.N786N|ATP2C1_ENST00000359644.3_Silent_p.N841N|ATP2C1_ENST00000328560.8_Silent_p.N841N|ATP2C1_ENST00000508532.1_Silent_p.N841N|ATP2C1_ENST00000505330.1_Silent_p.N825N|ATP2C1_ENST00000428331.2_Silent_p.N841N|ATP2C1_ENST00000513801.1_Silent_p.N825N|ATP2C1_ENST00000422190.2_Silent_p.N841N|ATP2C1_ENST00000393221.4_Silent_p.N875N|ATP2C1_ENST00000504948.1_Silent_p.N825N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	841					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTGCAGTAATAGAATGTTTT	0.383									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)											0			3											126	121	123					3																	130718397		2203	4300	6503	132201087	SO:0001819	synonymous_variant	27032	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2523T>C	3.37:g.130718397T>C			132201087	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	T	4.706	0.131310	0.08981	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.91	-0.378	0.12497	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52779	-0.8530	4	.	.	.	.	10.5305	0.44973	0.0:0.5934:0.0:0.4066	.	.	.	.	T	795	.	.	I	+	2	0	ATP2C1	132201087	1.000000	0.71417	0.510000	0.27712	0.558000	0.35554	2.078000	0.41567	-0.063000	0.13065	-0.912000	0.02778	ATA		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		C	130718397	T	C	130718397	2	2	262	1	0	0	0	0	0	0	0	1	1143	1403	49	4		4	ATP2C1	3	130718397	Silent	SNP	T	TCGA-24-1846-01A-01W-0639-09	31203526	130718397	67304033	25	14623											
OTOL1	131149	genome.wustl.edu	37	3	161221614	161221614	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:161221614C>A	ENST00000327928.4	+	4	1318	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	440	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGCAGGAGACCAAGTCTGGCT	0.463																																																0			3											55	54	54					3																	161221614		1925	4136	6061	162704308	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1318C>A	3.37:g.161221614C>A	ENSP00000330808:p.Gln440Lys		162704308		Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745986	0.69418	.	.	ENSG00000182447	ENST00000327928	T	0.74421	-0.84	5.35	5.35	0.76521	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	M	0.62723	1.935	0.48632	D	0.999684	P	0.36990	0.577	P	0.44921	0.464	T	0.77259	-0.2654	10	0.39692	T	0.17	.	17.6663	0.88203	0.0:1.0:0.0:0.0	.	440	A6NHN0	OTOL1_HUMAN	K	440	ENSP00000330808:Q440K	ENSP00000330808:Q440K	Q	+	1	0	OTOL1	162704308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.786000	0.55431	2.503000	0.84419	0.563000	0.77884	CAA		0.463	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		A	161221614	C	A	161221614	3	1	262	1	0	0	0	0	1	0	0	0	11304	595	21	3	1332	3	OTOL1	3	161221614	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	30503217	161221614	36800816	26	14624											
DGKG	1608	genome.wustl.edu	37	3	185986597	185986597	+	Missense_Mutation	SNP	C	C	T	rs148805735		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:185986597C>T	ENST00000265022.3	-	12	1648	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.R370Q	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	370			R -> W (in dbSNP:rs3213770).		blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CACCGTCATCCGGCACCACAC	0.602																																																0			3						C	GLN/ARG,,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	62	52	56		1109,,1109	4.1	1	3	dbSNP_134	56	0,8600		0,0,4300	no	missense,intron,missense	DGKG	NM_001080744.1,NM_001080745.1,NM_001346.2	43,,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,,benign	370/767,,370/792	185986597	1,13005	2203	4300	6503	187469291	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1109G>A	3.37:g.185986597C>T	ENSP00000265022:p.Arg370Gln		187469291	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478745	0.44044	2.27E-4	0.0	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84146	-1.81;-1.81;-1.81	5.16	4.06	0.47325	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.146062	0.47093	D	0.000249	T	0.63141	0.2486	N	0.11651	0.15	0.80722	D	1	B;B	0.17667	0.019;0.023	B;B	0.17722	0.019;0.003	T	0.58787	-0.7575	10	0.02654	T	1	.	4.5792	0.12250	0.0:0.7042:0.0:0.2958	.	370;370	P49619-2;P49619	.;DGKG_HUMAN	Q	370;370;121	ENSP00000265022:R370Q;ENSP00000339777:R370Q;ENSP00000395526:R121Q	ENSP00000265022:R370Q	R	-	2	0	DGKG	187469291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.774000	0.62339	2.590000	0.87494	0.563000	0.77884	CGG		0.602	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			T	185986597	C	T	185986597	3	4	262	1	0	0	0	0	1	0	0	0	4469	652	23	1	1322	1	DGKG	3	185986597	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	24764983	185986597	12035833	27	14625											
MUC4	4585	genome.wustl.edu	37	3	195501156	195501156	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:195501156C>T	ENST00000346145.4	-	3	295	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	MUC4_ENST00000463781.3_Missense_Mutation_p.G4322R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4322R|MUC4_ENST00000349607.4_Missense_Mutation_p.G35R	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1079					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCGCCTGCCCCATAGGGGAAG	0.637																																																0			3											38	43	41					3																	195501156		2203	4299	6502	196986790	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.256G>A	3.37:g.195501156C>T	ENSP00000304207:p.Gly86Arg		196986790	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593169	0.46214	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.68479	-0.33;-0.01;-0.02;0.4	5.36	5.36	0.76844	.	0.000000	0.48767	D	0.000175	T	0.79329	0.4427	M	0.74258	2.255	0.29943	N	0.820862	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.988;0.982;0.995;0.995	T	0.77835	-0.2440	10	0.87932	D	0	-12.7459	10.1448	0.42758	0.0:0.9092:0.0:0.0908	.	4194;1079;35;86	E7ESK3;Q99102;Q99102-12;Q99102-13	.;MUC4_HUMAN;.;.	R	35;86;4322;4322;1048	ENSP00000338109:G35R;ENSP00000304207:G86R;ENSP00000417498:G4322R;ENSP00000420243:G4322R	ENSP00000304207:G86R	G	-	1	0	MUC4	196986790	0.614000	0.27017	0.260000	0.24451	0.034000	0.12701	2.628000	0.46477	2.512000	0.84698	0.638000	0.83543	GGG		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		T	195501156	C	T	195501156	3	4	262	1	0	0	0	0	1	0	0	0	9978	594	21	2	3362	2	MUC4	3	195501156	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	9514559	195501156	2521274	28	14626											
TFRC	7037	genome.wustl.edu	37	3	195785486	195785486	+	Silent	SNP	A	A	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:195785486A>C	ENST00000360110.4	-	15	1723	c.1554T>G	c.(1552-1554)acT>acG	p.T518T	TFRC_ENST00000392396.3_Silent_p.T518T|TFRC_ENST00000535031.1_Silent_p.T236T|TFRC_ENST00000420415.1_Silent_p.T437T|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	518					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	GAAATTGCCCAGTAACCGGAT	0.353			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0			3											129	128	128					3																	195785486		2203	4300	6503	197269883	SO:0001819	synonymous_variant	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1554T>G	3.37:g.195785486A>C			197269883	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	CCDS3312.1																																																																																				0.353	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			C	195785486	A	C	195785486	2	2	262	1	0	0	0	0	0	0	0	1	15812	175	7	5		5	TFRC	3	195785486	Silent	SNP	A	TCGA-24-1846-01A-01W-0639-09	284330	195785486	2236944	29	14627											
SLIT2	9353	genome.wustl.edu	37	4	20591304	20591304	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr4:20591304G>C	ENST00000504154.1	+	30	3378	c.3126G>C	c.(3124-3126)caG>caC	p.Q1042H	SLIT2_ENST00000503823.1_Missense_Mutation_p.Q1034H|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q1038H|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q1055H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1042	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTGTGCCCAGGACCTGAACC	0.502																																																0			4											134	108	117					4																	20591304		2203	4300	6503	20200402	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3126G>C	4.37:g.20591304G>C	ENSP00000422591:p.Gln1042His		20200402	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007607	0.54361	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.92647	-2.27;-2.27;-3.08;-2.27	5.42	0.711	0.18162	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.157893	0.64402	D	0.000019	D	0.86661	0.5986	N	0.04508	-0.205	0.46874	D	0.99923	B;P	0.48640	0.002;0.913	B;P	0.56343	0.008;0.796	D	0.83973	0.0328	10	0.54805	T	0.06	.	9.9597	0.41688	0.6157:0.0:0.3843:0.0	.	1034;1042	O94813-3;O94813	.;SLIT2_HUMAN	H	1034;1042;1055;1038;1038	ENSP00000427548:Q1034H;ENSP00000422591:Q1042H;ENSP00000273739:Q1055H;ENSP00000422261:Q1038H	ENSP00000273739:Q1055H	Q	+	3	2	SLIT2	20200402	0.999000	0.42202	0.963000	0.40424	0.988000	0.76386	0.566000	0.23593	-0.117000	0.11872	-0.136000	0.14681	CAG		0.502	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20591304	G	C	20591304	3	2	262	1	0	0	0	0	1	0	0	0	14743	991	35	3	3244	3	SLIT2	4	20591304	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09		20591304	170562972	30	14628											
KDR	3791	genome.wustl.edu	37	4	55955115	55955115	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr4:55955115G>A	ENST00000263923.4	-	26	3725	c.3430C>T	c.(3430-3432)Cac>Tac	p.H1144Y	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCTCCCCGTGCCAGCAGTCC	0.458			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											93	93	93					4																	55955115		2203	4300	6503	55649872	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3430C>T	4.37:g.55955115G>A	ENSP00000263923:p.His1144Tyr		55649872	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591045	0.46214	.	.	ENSG00000128052	ENST00000263923	D	0.82893	-1.66	5.13	5.13	0.70059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.262047	0.38663	N	0.001603	D	0.84701	0.5530	L	0.54908	1.71	0.51012	D	0.999907	P	0.36249	0.545	B	0.44133	0.442	D	0.84399	0.0559	10	0.46703	T	0.11	.	18.9199	0.92520	0.0:0.0:1.0:0.0	.	1144	P35968	VGFR2_HUMAN	Y	1144	ENSP00000263923:H1144Y	ENSP00000263923:H1144Y	H	-	1	0	KDR	55649872	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.703000	0.61824	2.559000	0.86315	0.313000	0.20887	CAC		0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			A	55955115	G	A	55955115	3	1	262	1	0	0	0	0	1	0	0	0	8139	1319	46	2	660	2	KDR	4	55955115	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	35363811	55955115	135199161	31	14629											
SLC4A4	8671	genome.wustl.edu	37	4	72317017	72317017	+	Splice_Site	SNP	C	C	T	rs530167253		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr4:72317017C>T	ENST00000264485.5	+	11	1438	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Splice_Site_p.R441W|SLC4A4_ENST00000425175.1_Splice_Site_p.R441W|SLC4A4_ENST00000340595.3_Splice_Site_p.R397W|SLC4A4_ENST00000512686.1_Splice_Site_p.R397W	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	441					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R397W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCGAACTGGACGGTAACTGAC	0.438													C|||	1	0.000199681	0	0	5008	,	,		19879	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	large_intestine(1)	4											205	161	176					4																	72317017		2203	4300	6503	72535881	SO:0001630	splice_region_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1322+1C>T	4.37:g.72317017C>T			72535881	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125221	0.56721	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	6.08	1.91	0.25777	Bicarbonate transporter, C-terminal (1);	0.042903	0.85682	D	0.000000	D	0.92315	0.7562	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;P;D;D	0.91635	0.993;0.999;0.98;0.901;0.982;0.973	D	0.93676	0.6994	10	0.87932	D	0	.	15.7218	0.77718	0.6097:0.3903:0.0:0.0	.	441;441;397;397;421;441	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	W	441;441;441;397;397	ENSP00000264485:R441W;ENSP00000393557:R441W;ENSP00000307349:R441W;ENSP00000422400:R397W;ENSP00000344272:R397W	ENSP00000264485:R441W	R	+	1	2	SLC4A4	72535881	0.995000	0.38212	1.000000	0.80357	0.361000	0.29550	0.958000	0.29227	0.424000	0.26061	-0.122000	0.15005	CGG		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Missense_Mutation	T	72317017	C	T	72317017	5	4	262	1	0	0	0	0	0	0	1	0	14659	550	19	1	1480	1	SLC4A4	4	72317017	Splice_Site	SNP	C	TCGA-24-1846-01A-01W-0639-09	16361902	72317017	118837259	32	14630											
DNAH5	1767	genome.wustl.edu	37	5	13859658	13859658	+	Nonsense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr5:13859658G>C	ENST00000265104.4	-	30	4957	c.4853C>G	c.(4852-4854)tCa>tGa	p.S1618*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1618	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGTCTGTTGAGTTGGAAAG	0.418									Kartagener syndrome																																							0			5											163	158	159					5																	13859658		2203	4300	6503	13912658	SO:0001587	stop_gained	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4853C>G	5.37:g.13859658G>C	ENSP00000265104:p.Ser1618*		13912658	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	47	13.449097	0.99742	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.37	4.5	0.54988	.	0.113042	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5703	0.68205	0.0708:0.0:0.9292:0.0	.	.	.	.	X	1618	.	ENSP00000265104:S1618X	S	-	2	0	DNAH5	13912658	1.000000	0.71417	0.780000	0.31762	0.975000	0.68041	7.668000	0.83897	1.392000	0.46585	0.563000	0.77884	TCA		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13859658	G	C	13859658	4	2	262	1	0	0	0	0	0	1	0	0	4604	1294	45	3	9221	3	DNAH5	5	13859658	Nonsense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09		13859658	167055602	33	14631											
RXFP3	51289	genome.wustl.edu	37	5	33938038	33938038	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr5:33938038A>C	ENST00000330120.3	+	1	1548	c.1193A>C	c.(1192-1194)aAg>aCg	p.K398T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	398					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GAGTTCCGCAAGGCGCTCAAG	0.647																																																0			5											64	66	66					5																	33938038		2203	4300	6503	33973795	SO:0001583	missense	51289			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1193A>C	5.37:g.33938038A>C	ENSP00000328708:p.Lys398Thr		33973795	Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339433	0.60963	.	.	ENSG00000182631	ENST00000330120	T	0.39592	1.07	5.79	5.79	0.91817	.	0.243460	0.42420	D	0.000717	T	0.34308	0.0893	L	0.27053	0.805	0.48632	D	0.999682	B	0.13145	0.007	B	0.12156	0.007	T	0.08911	-1.0699	10	0.59425	D	0.04	-14.7002	16.1193	0.81336	1.0:0.0:0.0:0.0	.	398	Q9NSD7	RL3R1_HUMAN	T	398	ENSP00000328708:K398T	ENSP00000328708:K398T	K	+	2	0	RXFP3	33973795	0.345000	0.24835	0.990000	0.47175	0.996000	0.88848	3.006000	0.49529	2.201000	0.70794	0.533000	0.62120	AAG		0.647	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		C	33938038	A	C	33938038	3	2	262	1	0	0	0	0	1	0	0	0	13764	72	3	5	1195	5	RXFP3	5	33938038	Missense_Mutation	SNP	A	TCGA-24-1846-01A-01W-0639-09	20078380	33938038	146977222	34	14632											
OR2Y1	134083	genome.wustl.edu	37	5	180166789	180166789	+	Silent	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr5:180166789G>C	ENST00000307832.2	-	1	310	c.270C>G	c.(268-270)cgC>cgG	p.R90R		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGATGGTGCGGTCCACCC	0.587																																																0			5											75	67	69					5																	180166789		2203	4300	6503	180099395	SO:0001819	synonymous_variant	134083			AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.270C>G	5.37:g.180166789G>C			180099395	B9EIP1|Q6IFB1|Q96R16	Silent	SNP	ENST00000307832.2	37	CCDS34323.1																																																																																				0.587	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		C	180166789	G	C	180166789	2	2	262	1	0	0	0	0	0	0	0	1	11035	1306	46	3		3	OR2Y1	5	180166789	Silent	SNP	G	TCGA-24-1846-01A-01W-0639-09	146228751	180166789	748471	35	14633											
SLC22A23	63027	genome.wustl.edu	37	6	3287325	3287325	+	Splice_Site	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr6:3287325C>G	ENST00000406686.3	-	7	1313	c.1314G>C	c.(1312-1314)tcG>tcC	p.S438S	SLC22A23_ENST00000490273.1_Splice_Site_p.S157S|SLC22A23_ENST00000380302.4_Splice_Site_p.S157S|SLC22A23_ENST00000436008.2_Splice_Site_p.S438S|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	438					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ACCCCGTCAGCCTGTGGAGAC	0.612																																																0			6											81	61	68					6																	3287325		2203	4300	6503	3232324	SO:0001630	splice_region_variant	63027			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1314-1G>C	6.37:g.3287325C>G			3232324	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	CCDS47363.1																																																																																				0.612	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945	Silent	G	3287325	C	G	3287325	5	3	262	1	0	0	0	0	0	0	1	0	14455	753	26	3	762	3	SLC22A23	6	3287325	Splice_Site	SNP	C	TCGA-24-1846-01A-01W-0639-09		3287325	167827742	36	14634											
DSP	1832	genome.wustl.edu	37	6	7559595	7559613	+	Frame_Shift_Del	DEL	GTCACCAGTGAATGTTTGG	GTCACCAGTGAATGTTTGG	-	rs199585428		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	GTCACCAGTGAATGTTTGG	GTCACCAGTGAATGTTTGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr6:7559595_7559613delGTCACCAGTGAATGTTTGG	ENST00000379802.3	+	4	900_918	c.559_577delGTCACCAGTGAATGTTTGG	c.(559-579)gtcaccagtgaatgtttggggfs	p.VTSECLG187fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.VTSECLG187fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	187	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CACCAAACATGTCACCAGTGAATGTTTGGGGTGGATGAG	0.557																																																0			6																																								7504612	SO:0001589	frameshift_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.559_577delGTCACCAGTGAATGTTTGG	6.37:g.7559595_7559613delGTCACCAGTGAATGTTTGG	ENSP00000369129:p.Val187fs		7504594	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	ENST00000379802.3	37	CCDS4501.1																																																																																				0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		-	7559613	GTCACCAGTGAATGTTTGG	-	7559595	7	5	262	1	0	1	0	1	0	0	0	0	4781	1377	48	0	573	0	DSP	6	7559595	Frame_Shift_Del	DEL	GTCACCAGTGAATGTTTGG	TCGA-24-1846-01A-01W-0639-09	4272270	7559595	163555472	37	14635											
SCAND3	114821	genome.wustl.edu	37	6	28554161	28554161	+	Missense_Mutation	SNP	C	C	T	rs201333721		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr6:28554161C>T	ENST00000452236.2	-	1	951	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGCTCCCGCACCCAAGACTGG	0.522																																																0			6											121	127	125					6																	28554161		2203	4300	6503	28662140	SO:0001583	missense	114821																														ENST00000452236.2:c.334G>A	6.37:g.28554161C>T	ENSP00000395259:p.Val112Met		28662140		Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897096	0.72639	.	.	ENSG00000232040	ENST00000452236	T	0.10477	2.87	3.46	3.46	0.39613	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.28699	0.0711	M	0.90425	3.115	0.32092	N	0.59173	D	0.76494	0.999	D	0.85130	0.997	T	0.17684	-1.0361	9	0.87932	D	0	.	12.8515	0.57860	0.0:1.0:0.0:0.0	.	112	Q6R2W3	SCND3_HUMAN	M	112	ENSP00000395259:V112M	ENSP00000395259:V112M	V	-	1	0	SCAND3	28662140	1.000000	0.71417	0.998000	0.56505	0.788000	0.44548	2.953000	0.49105	1.938000	0.56188	0.655000	0.94253	GTG		0.522	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			T	28554161	C	T	28554161	3	4	262	1	0	0	0	0	1	0	0	0	13879	507	18	2	3659	2	SCAND3	6	28554161	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	20994566	28554161	142560906	38	14636											
HTR1E	3354	genome.wustl.edu	37	6	87725691	87725691	+	Silent	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr6:87725691C>T	ENST00000305344.5	+	2	1342	c.639C>T	c.(637-639)taC>taT	p.Y213Y		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	213					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGAGCCTTTACCAGAAAAGGG	0.433																																																0			6											95	95	95					6																	87725691		2203	4300	6503	87782410	SO:0001819	synonymous_variant	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.639C>T	6.37:g.87725691C>T			87782410	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																				0.433	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		T	87725691	C	T	87725691	2	4	262	1	0	0	0	0	0	0	0	1	7439	518	18	2		2	HTR1E	6	87725691	Silent	SNP	C	TCGA-24-1846-01A-01W-0639-09	59171530	87725691	83389376	39	14637											
CYTH3	9265	genome.wustl.edu	37	7	6213339	6213339	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:6213339G>T	ENST00000350796.3	-	6	530	c.394C>A	c.(394-396)Caa>Aaa	p.Q132K	Y_RNA_ENST00000458975.1_RNA|CYTH3_ENST00000396741.2_5'Flank|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	132	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ACAAAGGCTTGAAGAACTTTA	0.373																																																0			7											88	87	87					7																	6213339		2203	4300	6503	6179864	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.394C>A	7.37:g.6213339G>T	ENSP00000297044:p.Gln132Lys		6179864	A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728713	0.48833	.	.	ENSG00000008256	ENST00000350796	T	0.49720	0.77	5.71	4.83	0.62350	.	0.149712	0.64402	D	0.000009	T	0.27832	0.0685	N	0.05177	-0.1	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04607	-1.0939	10	0.27082	T	0.32	.	14.5668	0.68182	0.0703:0.0:0.9297:0.0	.	132	O43739-2	.	K	132	ENSP00000297044:Q132K	ENSP00000297044:Q132K	Q	-	1	0	CYTH3	6179864	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.675000	0.98638	1.408000	0.46895	0.655000	0.94253	CAA		0.373	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		T	6213339	G	T	6213339	3	4	262	1	0	0	0	0	1	0	0	0	4205	1299	45	3	837	3	CYTH3	7	6213339	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09		6213339	152925324	40	14638											
CDK13	8621	genome.wustl.edu	37	7	40102447	40102447	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:40102447A>G	ENST00000181839.4	+	8	3228	c.2623A>G	c.(2623-2625)Att>Gtt	p.I875V	CDK13_ENST00000340829.5_Missense_Mutation_p.I875V|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	875	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TAACAAGGTAATTACTTTATG	0.388																																																0			7											310	324	319					7																	40102447		2203	4300	6503	40068972	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2623A>G	7.37:g.40102447A>G	ENSP00000181839:p.Ile875Val		40068972	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	.	18.06	3.538540	0.65085	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.63913	-0.07;-0.07	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.52821	0.1758	N	0.01277	-0.915	0.80722	D	1	P;D;D	0.62365	0.938;0.991;0.968	P;D;D	0.72625	0.773;0.978;0.959	T	0.64110	-0.6484	8	.	.	.	-7.2673	15.9541	0.79871	1.0:0.0:0.0:0.0	.	261;875;875	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	V	875	ENSP00000181839:I875V;ENSP00000340557:I875V	.	I	+	1	0	CDK13	40068972	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.307000	0.96226	2.235000	0.73313	0.460000	0.39030	ATT		0.388	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		G	40102447	A	G	40102447	3	3	262	1	0	0	0	0	1	0	0	0	3129	101	4	4	2653	4	CDK13	7	40102447	Missense_Mutation	SNP	A	TCGA-24-1846-01A-01W-0639-09	33889108	40102447	119036216	41	14639											
ABCA13	154664	genome.wustl.edu	37	7	48312540	48312540	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:48312540G>C	ENST00000435803.1	+	17	3301	c.3277G>C	c.(3277-3279)Gac>Cac	p.D1093H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1093					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGTAGAAGACCTATTGGA	0.338																																																0			7											44	42	43					7																	48312540		1813	4079	5892	48283086	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3277G>C	7.37:g.48312540G>C	ENSP00000411096:p.Asp1093His		48283086	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	4.121	0.020751	0.08006	.	.	ENSG00000179869	ENST00000435803	D	0.85484	-1.99	5.7	0.449	0.16619	.	1.541850	0.03946	N	0.287633	T	0.69441	0.3111	N	0.08118	0	0.09310	N	1	B	0.32396	0.369	B	0.27170	0.077	T	0.62695	-0.6800	10	0.72032	D	0.01	.	4.421	0.11481	0.2328:0.0:0.3718:0.3954	.	1093	Q86UQ4	ABCAD_HUMAN	H	1093	ENSP00000411096:D1093H	ENSP00000411096:D1093H	D	+	1	0	ABCA13	48283086	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.127000	0.10547	0.085000	0.17107	0.655000	0.94253	GAC		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		C	48312540	G	C	48312540	3	2	262	1	0	0	0	0	1	0	0	0	31	942	33	3	3172	3	ABCA13	7	48312540	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	8210093	48312540	110826123	42	14640											
GIGYF1	64599	genome.wustl.edu	37	7	100284314	100284314	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:100284314C>T	ENST00000275732.5	-	7	1861	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	218					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCCGGGGCCCTGCTCCGAGC	0.687																																																0			7											26	31	29					7																	100284314		2202	4293	6495	100122250	SO:0001583	missense	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.652G>A	7.37:g.100284314C>T	ENSP00000275732:p.Gly218Arg		100122250	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	17.46	3.395164	0.62066	.	.	ENSG00000146830	ENST00000275732	D	0.84516	-1.86	4.68	4.68	0.58851	.	0.134244	0.49305	D	0.000157	D	0.89424	0.6711	L	0.49126	1.545	0.48762	D	0.999701	D	0.89917	1.0	D	0.83275	0.996	D	0.89987	0.4105	10	0.72032	D	0.01	-13.4689	12.982	0.58570	0.0:1.0:0.0:0.0	.	218	O75420	PERQ1_HUMAN	R	218	ENSP00000275732:G218R	ENSP00000275732:G218R	G	-	1	0	GIGYF1	100122250	0.995000	0.38212	1.000000	0.80357	0.335000	0.28730	3.583000	0.53928	2.430000	0.82344	0.563000	0.77884	GGG		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		T	100284314	C	T	100284314	3	4	262	1	0	0	0	0	1	0	0	0	6377	681	24	2	2527	2	GIGYF1	7	100284314	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	51971774	100284314	58854349	43	14641											
LAMB1	3912	genome.wustl.edu	37	7	107571914	107571914	+	Missense_Mutation	SNP	G	G	C	rs143261373		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:107571914G>C	ENST00000222399.6	-	29	4654	c.4424C>G	c.(4423-4425)gCa>gGa	p.A1475G	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1499G|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1475	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ACTTTGTTTTGCCTCATCTGC	0.373																																																0			7											163	157	159					7																	107571914		2203	4300	6503	107359150	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4424C>G	7.37:g.107571914G>C	ENSP00000222399:p.Ala1475Gly		107359150	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264338	0.95399	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.36340	1.27;1.26	5.62	5.62	0.85841	.	.	.	.	.	T	0.65312	0.2679	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.68405	-0.5417	9	0.72032	D	0.01	.	19.6753	0.95930	0.0:0.0:1.0:0.0	.	1475;1499	P07942;G3XAI2	LAMB1_HUMAN;.	G	1499;1475	ENSP00000377191:A1499G;ENSP00000222399:A1475G	ENSP00000222399:A1475G	A	-	2	0	LAMB1	107359150	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.400000	0.97290	2.648000	0.89879	0.563000	0.77884	GCA		0.373	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		C	107571914	G	C	107571914	3	2	262	1	0	0	0	0	1	0	0	0	8610	1319	46	3	960	3	LAMB1	7	107571914	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	7287600	107571914	51566749	44	14642											
OPN1SW	611	genome.wustl.edu	37	7	128415517	128415517	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:128415517C>T	ENST00000249389.2	-	1	327	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	110					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGGAAGCCCTCCAAAGCACAA	0.552																																																0			7											130	133	132					7																	128415517		2203	4300	6503	128202753	SO:0001583	missense	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.328G>A	7.37:g.128415517C>T	ENSP00000249389:p.Glu110Lys		128202753	Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918989	0.73098	.	.	ENSG00000128617	ENST00000249389	T	0.37411	1.2	5.35	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.055783	0.64402	D	0.000001	T	0.66218	0.2767	H	0.94808	3.585	0.53688	D	0.999975	D	0.59357	0.985	P	0.62491	0.903	T	0.75886	-0.3159	10	0.87932	D	0	.	12.0179	0.53324	0.0:0.9167:0.0:0.0833	.	110	P03999	OPSB_HUMAN	K	110	ENSP00000249389:E110K	ENSP00000249389:E110K	E	-	1	0	OPN1SW	128202753	1.000000	0.71417	0.926000	0.36857	0.323000	0.28346	7.625000	0.83145	1.493000	0.48517	0.655000	0.94253	GAG		0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		T	128415517	C	T	128415517	3	4	262	1	0	0	0	0	1	0	0	0	10880	864	30	2	738	2	OPN1SW	7	128415517	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	20843603	128415517	30723146	45	14643											
KCNU1	157855	genome.wustl.edu	37	8	36768523	36768523	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:36768523C>A	ENST00000399881.3	+	22	2444	c.2407C>A	c.(2407-2409)Cca>Aca	p.P803T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	803					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTTGTCCCCCCCACCCCAGCC	0.527																																																0			8											94	99	97					8																	36768523		2008	4175	6183	36887681	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2407C>A	8.37:g.36768523C>A	ENSP00000382770:p.Pro803Thr		36887681		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	0.253	-1.005106	0.02112	.	.	ENSG00000215262	ENST00000399881	T	0.40476	1.03	5.67	1.17	0.20885	.	0.835458	0.09567	U	0.784724	T	0.30947	0.0781	L	0.46157	1.445	0.09310	N	0.999999	P	0.46277	0.875	B	0.37508	0.252	T	0.14671	-1.0464	10	0.49607	T	0.09	-1.0293	5.4434	0.16521	0.1308:0.5591:0.0:0.3101	.	803	A8MYU2	KCNU1_HUMAN	T	803	ENSP00000382770:P803T	ENSP00000382770:P803T	P	+	1	0	KCNU1	36887681	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.107000	0.10873	-0.071000	0.12886	0.655000	0.94253	CCA		0.527	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		A	36768523	C	A	36768523	3	1	262	1	0	0	0	0	1	0	0	0	8093	623	22	3	2493	3	KCNU1	8	36768523	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09		36768523	109595499	46	14644											
ZFHX4	79776	genome.wustl.edu	37	8	77616799	77616799	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:77616799A>T	ENST00000521891.2	+	2	924	c.476A>T	c.(475-477)aAa>aTa	p.K159I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.K159I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K159I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K159I|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAAATAGCAAACTCTTTTCT	0.478										HNSCC(33;0.089)																																						0			8											67	68	68					8																	77616799		1942	4141	6083	77779354	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.476A>T	8.37:g.77616799A>T	ENSP00000430497:p.Lys159Ile		77779354	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794349	0.31777	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.42	5.42	0.78866	.	0.000000	0.47455	U	0.000231	T	0.25644	0.0624	N	0.19112	0.55	0.43355	D	0.995424	B;B;B;B	0.33583	0.294;0.418;0.418;0.358	B;B;B;B	0.30943	0.057;0.122;0.122;0.086	T	0.06356	-1.0831	10	0.40728	T	0.16	.	15.6293	0.76888	1.0:0.0:0.0:0.0	.	159;159;159;159	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	I	159	ENSP00000430497:K159I;ENSP00000399605:K159I;ENSP00000050961:K159I;ENSP00000430848:K159I	ENSP00000050961:K159I	K	+	2	0	ZFHX4	77779354	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.920000	0.63390	2.276000	0.75962	0.528000	0.53228	AAA		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77616799	A	T	77616799	3	4	262	1	0	0	0	0	1	0	0	0	17635	14	1	5	478	5	ZFHX4	8	77616799	Missense_Mutation	SNP	A	TCGA-24-1846-01A-01W-0639-09	40848276	77616799	68747223	47	14645											
OC90	729330	genome.wustl.edu	37	8	133051071	133051071	+	Silent	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:133051071G>T	ENST00000443356.2	-	8	680	c.594C>A	c.(592-594)acC>acA	p.T198T	OC90_ENST00000254627.3_Silent_p.T198T|OC90_ENST00000262283.5_Silent_p.T394T|OC90_ENST00000603859.1_Silent_p.T198T			Q02509	OC90_HUMAN	otoconin 90	198					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTTCCTTGATGGTTGTCTCTG	0.512																																																0			8											89	92	91					8																	133051071		1903	4116	6019	133120253	SO:0001819	synonymous_variant	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.594C>A	8.37:g.133051071G>T			133120253	B4DNG8	Silent	SNP	ENST00000443356.2	37																																																																																					0.512	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		T	133051071	G	T	133051071	2	4	262	1	0	0	0	0	0	0	0	1	10814	1335	47	3		3	OC90	8	133051071	Silent	SNP	G	TCGA-24-1846-01A-01W-0639-09	55434272	133051071	13312951	48	14646											
ZFAT	57623	genome.wustl.edu	37	8	135613935	135613935	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:135613935G>A	ENST00000377838.3	-	6	2201	c.2027C>T	c.(2026-2028)tCa>tTa	p.S676L	ZFAT_ENST00000523399.1_Missense_Mutation_p.S614L|ZFAT_ENST00000520727.1_Missense_Mutation_p.S664L|ZFAT_ENST00000520356.1_Missense_Mutation_p.S664L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S664L|ZFAT_ENST00000429442.2_Missense_Mutation_p.S664L|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	676					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTGGGTTTGACCTGAGACA	0.607																																																0			8											59	66	64					8																	135613935		2029	4193	6222	135683117	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2027C>T	8.37:g.135613935G>A	ENSP00000367069:p.Ser676Leu		135683117	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	8.752	0.921633	0.17982	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.09445	3.05;2.98;2.99;2.98;2.98;2.99	5.0	4.11	0.48088	.	1.127060	0.06574	N	0.749009	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	B;B;P;B	0.38078	0.0;0.001;0.617;0.0	B;B;B;B	0.37144	0.001;0.004;0.242;0.001	T	0.32955	-0.9887	10	0.27785	T	0.31	1.0815	7.4784	0.27390	0.0796:0.0:0.6222:0.2981	.	614;664;664;676	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	664;664;664;676;664;563;614;664	ENSP00000427879:S664L;ENSP00000427831:S664L;ENSP00000394501:S664L;ENSP00000367069:S676L;ENSP00000428483:S664L;ENSP00000429091:S614L	ENSP00000326997:S563L	S	-	2	0	ZFAT	135683117	0.011000	0.17503	0.053000	0.19242	0.523000	0.34469	1.866000	0.39489	1.291000	0.44653	0.561000	0.74099	TCA		0.607	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		A	135613935	G	A	135613935	3	1	262	1	0	0	0	0	1	0	0	0	17632	1294	45	2	1748	2	ZFAT	8	135613935	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	2562864	135613935	10750087	49	14647											
CYP11B2	1585	genome.wustl.edu	37	8	143999097	143999097	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:143999097G>C	ENST00000323110.2	-	1	162	c.160C>G	c.(160-162)Cag>Gag	p.Q54E		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	54					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CTCCAGATCTGCAGCAGCCTC	0.642									Familial Hyperaldosteronism type I																																							0			8											82	73	76					8																	143999097		2203	4300	6503	143996099	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.160C>G	8.37:g.143999097G>C	ENSP00000325822:p.Gln54Glu		143996099	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	10.53	1.377125	0.24944	.	.	ENSG00000179142	ENST00000323110	T	0.67698	-0.28	3.48	2.5	0.30297	.	0.412335	0.17541	U	0.170536	T	0.52273	0.1724	L	0.45422	1.42	0.24055	N	0.996035	P	0.36183	0.542	B	0.38755	0.281	T	0.46400	-0.9194	10	0.02654	T	1	.	9.8388	0.40987	0.0:0.0:0.7955:0.2045	.	54	P19099	C11B2_HUMAN	E	54	ENSP00000325822:Q54E	ENSP00000325822:Q54E	Q	-	1	0	CYP11B2	143996099	0.998000	0.40836	0.113000	0.21522	0.068000	0.16541	1.750000	0.38329	1.950000	0.56595	0.655000	0.94253	CAG		0.642	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			C	143999097	G	C	143999097	3	2	262	1	0	0	0	0	1	0	0	0	4146	1328	46	3	1387	3	CYP11B2	8	143999097	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	8385162	143999097	2364925	50	14648											
ZFP41	286128	genome.wustl.edu	37	8	144332294	144332294	+	Missense_Mutation	SNP	G	G	A	rs555329332		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:144332294G>A	ENST00000330701.4	+	2	650	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	ZFP41_ENST00000522452.1_Missense_Mutation_p.R94Q|ZFP41_ENST00000520584.1_Missense_Mutation_p.R94Q	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	94					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GAGTGTGGGCGGATCTTTAAG	0.522													G|||	1	0.000199681	0	0	5008	,	,		18015	0		0	False		,,,				2504	0.001															0			8											87	88	88					8																	144332294		2203	4300	6503	144403669	SO:0001583	missense	286128				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.281G>A	8.37:g.144332294G>A	ENSP00000327427:p.Arg94Gln		144403669	D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472648	0.26423	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.41400	1.0;1.0;1.0	3.38	-0.756	0.11057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	P	0.42692	0.787	B	0.26202	0.067	T	0.15925	-1.0420	9	0.87932	D	0	-7.691	3.0301	0.06104	0.4457:0.0:0.3582:0.1961	.	94	Q8N8Y5	ZFP41_HUMAN	Q	94	ENSP00000430465:R94Q;ENSP00000327427:R94Q;ENSP00000428966:R94Q	ENSP00000327427:R94Q	R	+	2	0	ZFP41	144403669	0.005000	0.15991	0.000000	0.03702	0.265000	0.26407	2.082000	0.41605	-0.053000	0.13289	0.467000	0.42956	CGG		0.522	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		A	144332294	G	A	144332294	3	1	262	1	0	0	0	0	1	0	0	0	17649	1116	39	1	283	1	ZFP41	8	144332294	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	333197	144332294	2031728	51	14649											
IL33	90865	genome.wustl.edu	37	9	6253593	6253593	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:6253593A>T	ENST00000381434.3	+	5	524	c.511A>T	c.(511-513)Aat>Tat	p.N171Y	IL33_ENST00000456383.2_Missense_Mutation_p.N129Y|IL33_ENST00000417746.2_Missense_Mutation_p.N45Y	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	171					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ACACCCCTCAAATGAATCAGG	0.378																																																0			9											129	122	124					9																	6253593		2203	4300	6503	6243593	SO:0001583	missense	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.511A>T	9.37:g.6253593A>T	ENSP00000370842:p.Asn171Tyr		6243593	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.392769	0.25118	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.45668	0.89;0.89;0.89	4.29	0.546	0.17196	.	1.169080	0.06204	N	0.683832	T	0.21186	0.0510	N	0.08118	0	0.09310	N	1	B;B;B	0.26445	0.149;0.149;0.149	B;B;B	0.19666	0.019;0.026;0.026	T	0.22347	-1.0219	10	0.59425	D	0.04	0.013	3.2182	0.06706	0.5268:0.2157:0.2574:0.0	.	45;129;171	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	Y	45;129;171	ENSP00000394039:N45Y;ENSP00000414238:N129Y;ENSP00000370842:N171Y	ENSP00000370842:N171Y	N	+	1	0	IL33	6243593	0.001000	0.12720	0.002000	0.10522	0.288000	0.27193	0.859000	0.27858	0.084000	0.17077	0.533000	0.62120	AAT		0.378	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		T	6253593	A	T	6253593	3	4	262	1	0	0	0	0	1	0	0	0	7693	14	1	5	529	5	IL33	9	6253593	Missense_Mutation	SNP	A	TCGA-24-1846-01A-01W-0639-09		6253593	134959838	52	14650											
PLIN2	123	genome.wustl.edu	37	9	19116530	19116530	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:19116530T>C	ENST00000276914.2	-	8	1209	c.1030A>G	c.(1030-1032)Aag>Gag	p.K344E	PLIN2_ENST00000411567.1_Missense_Mutation_p.K263E	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	344					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CCCATGTGCTTGGCTTGATCT	0.542																																																0			9											156	113	128					9																	19116530		2203	4300	6503	19106530	SO:0001583	missense	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.1030A>G	9.37:g.19116530T>C	ENSP00000276914:p.Lys344Glu		19106530	Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	T	0.869	-0.732672	0.03135	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.05319	3.46;3.46	5.75	1.65	0.23941	.	1.732290	0.02115	N	0.055152	T	0.05364	0.0142	N	0.24115	0.695	0.19300	N	0.999978	B	0.06786	0.001	B	0.12156	0.007	T	0.41716	-0.9493	10	0.06365	T	0.9	.	9.5281	0.39175	0.1067:0.0:0.4836:0.4097	.	344	Q99541	PLIN2_HUMAN	E	263;344	ENSP00000415270:K263E;ENSP00000276914:K344E	ENSP00000276914:K344E	K	-	1	0	PLIN2	19106530	0.992000	0.36948	0.638000	0.29380	0.164000	0.22412	2.026000	0.41069	0.403000	0.25479	-0.321000	0.08615	AAG		0.542	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		C	19116530	T	C	19116530	3	2	262	1	0	0	0	0	1	0	0	0	12090	1821	63	4	287	4	PLIN2	9	19116530	Missense_Mutation	SNP	T	TCGA-24-1846-01A-01W-0639-09	12862937	19116530	122096901	53	14651											
TAF1L	138474	genome.wustl.edu	37	9	32632136	32632136	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:32632136G>C	ENST00000242310.4	-	1	3531	c.3442C>G	c.(3442-3444)Cta>Gta	p.L1148V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1148					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTCGCCGTAGTTCCTTCCGC	0.483																																																0			9											224	169	188					9																	32632136		2203	4300	6503	32622136	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3442C>G	9.37:g.32632136G>C	ENSP00000418379:p.Leu1148Val		32622136	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732233	0.48939	.	.	ENSG00000122728	ENST00000242310	T	0.18338	2.22	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	M	0.73372	2.23	0.49582	D	0.999805	P	0.47106	0.89	B	0.40741	0.339	T	0.04320	-1.0960	10	0.56958	D	0.05	.	2.8706	0.05616	0.3869:0.0:0.6131:0.0	.	1148	Q8IZX4	TAF1L_HUMAN	V	1148	ENSP00000418379:L1148V	ENSP00000418379:L1148V	L	-	1	2	TAF1L	32622136	1.000000	0.71417	0.983000	0.44433	0.570000	0.35934	1.536000	0.36072	0.507000	0.28148	0.195000	0.17529	CTA		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			C	32632136	G	C	32632136	3	2	262	1	0	0	0	0	1	0	0	0	15523	1020	36	3	2042	3	TAF1L	9	32632136	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	13515606	32632136	108581295	54	14652											
CCL21	6366	genome.wustl.edu	37	9	34709534	34709534	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:34709534T>A	ENST00000259607.2	-	3	391	c.334A>T	c.(334-336)Act>Tct	p.T112S	CCL21_ENST00000378792.1_Missense_Mutation_p.T112S	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	112	C-terminal basic extension.				activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCTTGCCAGTCTTGGAGGCC	0.587																																																0			9											81	78	79					9																	34709534		2203	4300	6503	34699534	SO:0001583	missense	6366			AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"Chemokine ligands", "Endogenous ligands"	10620	protein-coding gene	gene with protein product	"beta chemokine exodus-2", "secondary lymphoid tissue chemokine", "Efficient Chemoattractant for Lymphocytes"	602737	"small inducible cytokine subfamily A (Cys-Cys), member 21"	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.334A>T	9.37:g.34709534T>A	ENSP00000259607:p.Thr112Ser		34699534		Missense_Mutation	SNP	ENST00000259607.2	37	CCDS6571.1	.	.	.	.	.	.	.	.	.	.	T	1.467	-0.560772	0.03939	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.02050	4.48;4.5	5.46	-10.9	0.00192	.	3.289040	0.00769	N	0.001181	T	0.00666	0.0022	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44877	-0.9299	10	0.02654	T	1	3.4501	2.8232	0.05478	0.1512:0.396:0.2701:0.1827	.	112	O00585	CCL21_HUMAN	S	112	ENSP00000259607:T112S;ENSP00000368069:T112S	ENSP00000259607:T112S	T	-	1	0	CCL21	34699534	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-4.058000	0.00304	-2.495000	0.00514	-0.248000	0.11899	ACT		0.587	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	NM_002989		A	34709534	T	A	34709534	3	1	262	1	0	0	0	0	1	0	0	0	2893	1667	58	5	78	5	CCL21	9	34709534	Missense_Mutation	SNP	T	TCGA-24-1846-01A-01W-0639-09	2077398	34709534	106503897	55	14653											
ERP44	23071	genome.wustl.edu	37	9	102814807	102814807	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:102814807A>G	ENST00000262455.6	-	4	377	c.178T>C	c.(178-180)Ttc>Ctc	p.F60L		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	60	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						ATCTGACTGAAACGACACCTA	0.358																																																0			9											92	86	88					9																	102814807		2203	4300	6503	101854628	SO:0001583	missense	23071			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"Protein disulfide isomerases"	18311	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 10"	609170	"thioredoxin domain containing 4 (endoplasmic reticulum)"	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.178T>C	9.37:g.102814807A>G	ENSP00000262455:p.Phe60Leu		101854628	O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	A	32	5.149967	0.94645	.	.	ENSG00000023318	ENST00000262455	T	0.03152	4.03	5.62	5.62	0.85841	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00581	-1.1660	10	0.56958	D	0.05	-0.4947	14.8215	0.70077	1.0:0.0:0.0:0.0	.	60	Q9BS26	ERP44_HUMAN	L	60	ENSP00000262455:F60L	ENSP00000262455:F60L	F	-	1	0	ERP44	101854628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.563000	0.90723	2.150000	0.67090	0.533000	0.62120	TTC		0.358	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476		G	102814807	A	G	102814807	3	3	262	1	0	0	0	0	1	0	0	0	5243	14	1	4	1078	4	ERP44	9	102814807	Missense_Mutation	SNP	A	TCGA-24-1846-01A-01W-0639-09	68105273	102814807	38398624	56	14654											
MURC	347273	genome.wustl.edu	37	9	103348453	103348453	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:103348453G>A	ENST00000307584.5	+	2	880	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	272					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTTAAGATGCGCAGCCTCAGG	0.537																																																0			9											102	107	105					9																	103348453		2203	4300	6503	102388274	SO:0001583	missense	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.815G>A	9.37:g.103348453G>A	ENSP00000418668:p.Arg272His		102388274	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046415	0.36085	.	.	ENSG00000170681	ENST00000307584	T	0.63580	-0.05	5.44	-0.384	0.12474	.	0.409242	0.26109	N	0.026293	T	0.32941	0.0846	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.11084	-1.0602	10	0.41790	T	0.15	0.0652	4.1553	0.10258	0.3603:0.3259:0.3139:0.0	.	272	Q5BKX8	MURC_HUMAN	H	272	ENSP00000418668:R272H	ENSP00000418668:R272H	R	+	2	0	MURC	102388274	0.021000	0.18746	0.078000	0.20375	0.739000	0.42172	0.125000	0.15749	0.074000	0.16767	0.561000	0.74099	CGC		0.537	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		A	103348453	G	A	103348453	3	1	262	1	0	0	0	0	1	0	0	0	9987	1087	38	1	821	1	MURC	9	103348453	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	533646	103348453	37864978	57	14655											
C5	727	genome.wustl.edu	37	9	123744121	123744121	+	Splice_Site	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:123744121C>T	ENST00000223642.1	-	27	3516		c.e27+1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTCTTACTTACCACCAGGGGG	0.413																																																0			9											73	69	71					9																	123744121		2203	4300	6503	122783942	SO:0001630	splice_region_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3486+1G>A	9.37:g.123744121C>T			122783942	Q14CJ0|Q27I61	Splice_Site	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	9.605	1.129692	0.21041	.	.	ENSG00000106804	ENST00000223642	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3824	0.87408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5	122783942	1.000000	0.71417	0.991000	0.47740	0.049000	0.14656	5.001000	0.63946	2.413000	0.81919	0.644000	0.83932	.		0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	Intron	T	123744121	C	T	123744121	5	4	262	1	0	0	0	0	0	0	1	0	2280	521	18	2	1603	2	C5	9	123744121	Splice_Site	SNP	C	TCGA-24-1846-01A-01W-0639-09	20395668	123744121	17469310	58	14656											
RAPGEF1	2889	genome.wustl.edu	37	9	134501375	134501395	+	In_Frame_Del	DEL	TAAAATCACCCACAAATTCGA	TAAAATCACCCACAAATTCGA	-	rs545727970|rs367643811		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	TAAAATCACCCACAAATTCGA	TAAAATCACCCACAAATTCGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:134501375_134501395delTAAAATCACCCACAAATTCGA	ENST00000372189.3	-	10	1688_1708	c.1565_1585delTCGAATTTGTGGGTGATTTTA	c.(1564-1587)gtcgaatttgtgggtgattttact>gct	p.522_529VEFVGDFT>A	RAPGEF1_ENST00000372190.3_In_Frame_Del_p.540_547VEFVGDFT>A|RAPGEF1_ENST00000481260.1_5'Flank|RAPGEF1_ENST00000372195.1_In_Frame_Del_p.539_546VEFVGDFT>A	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	522					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCAGGAGCAGTAAAATCACCCACAAATTCGACAGGGGCTGA	0.534																																																0			9																																								133491216	SO:0001651	inframe_deletion	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1565_1585delTCGAATTTGTGGGTGATTTTA	9.37:g.134501375_134501395delTAAAATCACCCACAAATTCGA	ENSP00000361263:p.Val522_Thr529delinsAla		133491196	Q5JUE4|Q8IV73	In_Frame_Del	DEL	ENST00000372189.3	37	CCDS48047.1																																																																																				0.534	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		-	134501395	TAAAATCACCCACAAATTCGA	-	134501375	7	5	262	1	0	1	0	1	0	0	0	0	13046	1638	57	0	1708	0	RAPGEF1	9	134501375	In_Frame_Del	DEL	TAAAATCACCCACAAATTCGA	TCGA-24-1846-01A-01W-0639-09	10757254	134501375	6712056	59	14657											
NRP1	8829	genome.wustl.edu	37	10	33559605	33559605	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:33559605C>A	ENST00000265371.4	-	4	953	c.428G>T	c.(427-429)aGa>aTa	p.R143I	NRP1_ENST00000374821.5_Missense_Mutation_p.R143I|NRP1_ENST00000395995.1_Missense_Mutation_p.R143I|NRP1_ENST00000374867.2_Missense_Mutation_p.R143I|NRP1_ENST00000374816.3_Missense_Mutation_p.R143I|NRP1_ENST00000374822.4_Missense_Mutation_p.R143I|NRP1_ENST00000374823.5_Missense_Mutation_p.R143I|NRP1_ENST00000374875.1_Intron|NRP1_ENST00000432372.2_Missense_Mutation_p.R143I			O14786	NRP1_HUMAN	neuropilin 1	143					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCACTCACCTCTCTTGAAAAT	0.443																																					Melanoma(104;886 1489 44640 45944 51153)											0			10											89	88	88					10																	33559605		2203	4300	6503	33599611	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.428G>T	10.37:g.33559605C>A	ENSP00000265371:p.Arg143Ile		33599611	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069319	0.55539	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	D;D;D;D;D;D;D	0.90261	-2.27;-2.27;-2.28;-2.62;-2.59;-2.64;-2.62	5.71	3.87	0.44632	.	0.189453	0.53938	D	0.000041	T	0.81327	0.4799	N	0.11131	0.1	0.58432	D	0.999999	P;P;P;B;P;B;P;P	0.49090	0.565;0.565;0.788;0.02;0.919;0.309;0.565;0.737	B;B;B;B;B;B;B;B	0.43990	0.164;0.28;0.405;0.028;0.325;0.075;0.164;0.438	T	0.80792	-0.1224	10	0.72032	D	0.01	-17.1081	7.8773	0.29601	0.0:0.7274:0.1323:0.1403	.	143;143;143;143;143;143;143;143	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	I	143	ENSP00000265371:R143I;ENSP00000364001:R143I;ENSP00000379317:R143I;ENSP00000363955:R143I;ENSP00000363954:R143I;ENSP00000363956:R143I;ENSP00000363949:R143I	ENSP00000265371:R143I	R	-	2	0	NRP1	33599611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.160000	0.58164	0.772000	0.33382	0.655000	0.94253	AGA		0.443	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			A	33559605	C	A	33559605	3	1	262	1	0	0	0	0	1	0	0	0	10660	913	32	3	2414	3	NRP1	10	33559605	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09		33559605	101975142	60	14658											
ZNF22	7570	genome.wustl.edu	37	10	45499328	45499328	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:45499328A>C	ENST00000298299.3	+	2	1105	c.512A>C	c.(511-513)gAa>gCa	p.E171A	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	171					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CAGTGCAGTGAATGTGGCAAA	0.502																																																0			10											79	85	83					10																	45499328		2203	4300	6503	44819334	SO:0001583	missense	7570			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"Zinc fingers, C2H2-type"	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.512A>C	10.37:g.45499328A>C	ENSP00000298299:p.Glu171Ala		44819334	Q5T741|Q96FM4	Missense_Mutation	SNP	ENST00000298299.3	37	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469529	0.43839	.	.	ENSG00000165512	ENST00000298299	T	0.06933	3.24	5.23	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	T	0.11452	0.0279	M	0.64080	1.96	0.38064	D	0.936171	B	0.13145	0.007	B	0.22386	0.039	T	0.03597	-1.1021	10	0.62326	D	0.03	-23.9633	10.3998	0.44222	0.8355:0.1645:0.0:0.0	.	171	P17026	ZNF22_HUMAN	A	171	ENSP00000298299:E171A	ENSP00000298299:E171A	E	+	2	0	ZNF22	44819334	0.003000	0.15002	0.921000	0.36526	0.890000	0.51754	1.670000	0.37502	0.979000	0.38497	0.533000	0.62120	GAA		0.502	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		C	45499328	A	C	45499328	3	2	262	1	0	0	0	0	1	0	0	0	17774	246	9	5	514	5	ZNF22	10	45499328	Missense_Mutation	SNP	A	TCGA-24-1846-01A-01W-0639-09	11939723	45499328	90035419	61	14659											
PCDH15	65217	genome.wustl.edu	37	10	55571358	55571358	+	Silent	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:55571358T>C	ENST00000395438.1	-	34	4789	c.4395A>G	c.(4393-4395)gaA>gaG	p.E1465E	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Silent_p.E1076E|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAGGATCAATTCCAGACTCC	0.308										HNSCC(58;0.16)																																						0			10											29	32	31					10																	55571358		1568	3579	5147	55241364	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395438.1:c.4395A>G	10.37:g.55571358T>C			55241364	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395438.1	37	CCDS44400.1																																																																																				0.308	PCDH15-017	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291344.1	NM_033056		C	55571358	T	C	55571358	2	2	262	1	0	0	0	0	0	0	0	1	11511	1490	52	4		4	PCDH15	10	55571358	Silent	SNP	T	TCGA-24-1846-01A-01W-0639-09	10072030	55571358	79963389	62	14660											
AIFM2	84883	genome.wustl.edu	37	10	71874873	71874873	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:71874873C>T	ENST00000307864.1	-	8	986	c.773G>A	c.(772-774)aGc>aAc	p.S258N	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.S258N	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	258					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GGCTAGTCTGCTCTCTGCCAG	0.572																																																0			10											62	43	50					10																	71874873		2203	4300	6503	71544879	SO:0001583	missense	84883			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.773G>A	10.37:g.71874873C>T	ENSP00000312370:p.Ser258Asn		71544879	B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	6.936	0.542460	0.13250	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.45668	0.89;0.89	5.93	-1.11	0.09840	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.633961	0.18309	N	0.145162	T	0.25269	0.0614	L	0.28608	0.87	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.23691	-1.0181	10	0.17832	T	0.49	-4.9821	9.711	0.40245	0.0:0.2795:0.0:0.7205	.	258	Q9BRQ8	AIFM2_HUMAN	N	258;258;221	ENSP00000362345:S258N;ENSP00000312370:S258N	ENSP00000312370:S258N	S	-	2	0	AIFM2	71544879	0.000000	0.05858	0.002000	0.10522	0.079000	0.17450	0.437000	0.21543	-0.076000	0.12775	-0.137000	0.14449	AGC		0.572	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		T	71874873	C	T	71874873	3	4	262	1	0	0	0	0	1	0	0	0	427	797	28	2	356	2	AIFM2	10	71874873	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	16303515	71874873	63659874	63	14661											
ADRA2A	150	genome.wustl.edu	37	10	112838889	112838889	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:112838889G>T	ENST00000280155.2	+	1	2100	c.1135G>T	c.(1135-1137)Ggg>Tgg	p.G379W		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	364					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCGCTGGCGCGGGCGGCAGAA	0.726																																					Esophageal Squamous(173;605 2658 7278 49362)											0			10											73	61	65					10																	112838889		2202	4299	6501	112828879	SO:0001583	missense	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1135G>T	10.37:g.112838889G>T	ENSP00000280155:p.Gly379Trp		112828879	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246731	0.59103	.	.	ENSG00000150594	ENST00000280155	T	0.44083	0.93	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.710624	0.12830	U	0.435694	T	0.53045	0.1772	L	0.33753	1.03	0.48571	D	0.999674	D	0.89917	1.0	D	0.91635	0.999	T	0.50233	-0.8852	10	0.44086	T	0.13	.	13.7658	0.62995	0.0:0.0:1.0:0.0	.	364	P08913	ADA2A_HUMAN	W	379	ENSP00000280155:G379W	ENSP00000280155:G379W	G	+	1	0	ADRA2A	112828879	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.252000	0.58785	1.932000	0.55993	0.462000	0.41574	GGG		0.726	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		T	112838889	G	T	112838889	3	4	262	1	0	0	0	0	1	0	0	0	337	1116	39	3	1137	3	ADRA2A	10	112838889	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	40964016	112838889	22695858	64	14662											
CPXM2	119587	genome.wustl.edu	37	10	125514210	125514210	+	Silent	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:125514210G>A	ENST00000241305.3	-	13	2140	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	662					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGCCTTCTACGGAGATAATGG	0.438																																																0			10											365	308	328					10																	125514210		2203	4300	6503	125504200	SO:0001819	synonymous_variant	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1986C>T	10.37:g.125514210G>A			125504200	B4E3Q2	Silent	SNP	ENST00000241305.3	37	CCDS7637.1																																																																																				0.438	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		A	125514210	G	A	125514210	2	1	262	1	0	0	0	0	0	0	0	1	3838	1103	39	1		1	CPXM2	10	125514210	Silent	SNP	G	TCGA-24-1846-01A-01W-0639-09	12675321	125514210	10020537	65	14663											
DNHD1	144132	genome.wustl.edu	37	11	6592978	6592978	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr11:6592978C>T	ENST00000527990.2	+	41	14024	c.14024C>T	c.(14023-14025)tCc>tTc	p.S4675F	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4675F			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4675					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACAGTCCTTCCAGCCAACCC	0.632																																																0			11											40	52	48					11																	6592978		2145	4250	6395	6549554	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14024C>T	11.37:g.6592978C>T	ENSP00000436180:p.Ser4675Phe		6549554	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692986	0.30052	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08008	3.14;3.14	4.75	3.83	0.44106	Dynein heavy chain (1);	0.342816	0.27088	N	0.020989	T	0.21267	0.0512	M	0.65975	2.015	0.09310	N	1	D;D;D	0.53462	0.96;0.96;0.96	P;P;P	0.57776	0.765;0.765;0.827	T	0.02156	-1.1204	10	0.59425	D	0.04	-4.147	12.536	0.56142	0.0:0.6461:0.3539:0.0	.	3763;728;4675	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	F	4675;4675;943	ENSP00000254579:S4675F;ENSP00000436180:S4675F	ENSP00000254579:S4675F	S	+	2	0	DNHD1	6549554	0.034000	0.19679	0.584000	0.28653	0.048000	0.14542	1.257000	0.32932	1.192000	0.43071	0.655000	0.94253	TCC		0.632	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6592978	C	T	6592978	3	4	262	1	0	0	0	0	1	0	0	0	4668	855	30	2	14195	2	DNHD1	11	6592978	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09		6592978	128413538	66	14664											
EIF4G2	1982	genome.wustl.edu	37	11	10824654	10824654	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr11:10824654G>T	ENST00000526148.1	-	11	1429	c.919C>A	c.(919-921)Cac>Aac	p.H307N	RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.H307N|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H307N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H307N	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACCCAATGGTGTTCTCGCAAC	0.333																																																0			11											79	75	76					11																	10824654		2201	4294	6495	10781230	SO:0001583	missense	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.919C>A	11.37:g.10824654G>T	ENSP00000433664:p.His307Asn		10781230		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	7.207	0.594721	0.13875	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.88	5.88	0.94601	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.042611	0.85682	D	0.000000	T	0.03263	0.0095	N	0.00082	-2.215	0.34535	D	0.709614	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.32903	-0.9889	9	0.02654	T	1	-6.8537	14.9922	0.71396	0.0:0.0:0.8575:0.1425	.	307;307;380	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	N	307;307;307;307;380;307	ENSP00000433664:H307N;ENSP00000433371:H307N;ENSP00000340281:H307N;ENSP00000379778:H307N;ENSP00000431583:H307N	ENSP00000340281:H307N	H	-	1	0	EIF4G2	10781230	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.055000	0.76656	2.780000	0.95670	0.655000	0.94253	CAC		0.333	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		T	10824654	G	T	10824654	3	4	262	1	0	0	0	0	1	0	0	0	5037	1377	48	3	1852	3	EIF4G2	11	10824654	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	4231676	10824654	124181862	67	14665											
C3AR1	719	genome.wustl.edu	37	12	8212655	8212655	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:8212655G>T	ENST00000307637.4	-	2	330	c.127C>A	c.(127-129)Ctg>Atg	p.L43M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	43					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CACAGCACCAGCCCATTGCCT	0.542																																																0			12											77	74	75					12																	8212655		2203	4300	6503	8103922	SO:0001583	missense	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.127C>A	12.37:g.8212655G>T	ENSP00000302079:p.Leu43Met		8103922	O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286859	0.59867	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.78595	-1.19;-1.19	5.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.113463	0.35870	N	0.002925	D	0.86892	0.6042	M	0.82716	2.605	0.38233	D	0.941097	D	0.89917	1.0	D	0.83275	0.996	D	0.88573	0.3131	10	0.72032	D	0.01	.	9.1455	0.36930	0.1306:0.0:0.8694:0.0	.	43	Q16581	C3AR_HUMAN	M	43	ENSP00000302079:L43M;ENSP00000444500:L43M	ENSP00000302079:L43M	L	-	1	2	C3AR1	8103922	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	0.074000	0.14662	2.672000	0.90937	0.484000	0.47621	CTG		0.542	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			T	8212655	G	T	8212655	3	4	262	1	0	0	0	0	1	0	0	0	2205	962	34	3	1325	3	C3AR1	12	8212655	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09		8212655	125639240	68	14666											
TAS2R7	50837	genome.wustl.edu	37	12	10954680	10954680	+	Silent	SNP	T	T	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:10954680T>G	ENST00000240687.2	-	1	546	c.490A>C	c.(490-492)Agg>Cgg	p.R164R		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	164					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TTTGTTTTCCTCTTTGCCTTC	0.433																																																0			12											173	159	164					12																	10954680		2203	4300	6503	10845947	SO:0001819	synonymous_variant	50837			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.490A>C	12.37:g.10954680T>G			10845947	Q645Y1	Silent	SNP	ENST00000240687.2	37	CCDS8631.1																																																																																				0.433	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			G	10954680	T	G	10954680	2	3	262	1	0	0	0	0	0	0	0	1	15586	1550	54	5		5	TAS2R7	12	10954680	Silent	SNP	T	TCGA-24-1846-01A-01W-0639-09	2742025	10954680	122897215	69	14667											
PLEKHA5	54477	genome.wustl.edu	37	12	19489550	19489550	+	Splice_Site	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:19489550G>T	ENST00000299275.6	+	16	2247	c.2241G>T	c.(2239-2241)caG>caT	p.Q747H	PLEKHA5_ENST00000317589.4_Splice_Site_p.Q747H|PLEKHA5_ENST00000543806.1_Splice_Site_p.Q666H|PLEKHA5_ENST00000359180.3_Splice_Site_p.Q747H|PLEKHA5_ENST00000355397.3_Splice_Site_p.Q805H|PLEKHA5_ENST00000539256.1_Splice_Site_p.Q505H|PLEKHA5_ENST00000424268.1_Splice_Site_p.Q678H|PLEKHA5_ENST00000429027.2_Splice_Site_p.Q850H|PLEKHA5_ENST00000538714.1_Splice_Site_p.Q805H	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	747					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GTGAAGTTCAGGTACAAAAGT	0.353																																					Pancreas(196;329 2193 11246 14234 19524)											0			12											68	68	68					12																	19489550		2203	4300	6503	19380817	SO:0001630	splice_region_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2241+1G>T	12.37:g.19489550G>T			19380817	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980644	0.74474	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	4.94	4.94	0.65067	.	0.129785	0.53938	D	0.000043	T	0.60689	0.2288	M	0.82716	2.605	0.48040	D	0.999579	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;0.997;0.997;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.998;0.995;0.995;0.966;0.997;0.997	T	0.67929	-0.5543	10	0.87932	D	0	-9.1073	17.7601	0.88462	0.0:0.0:1.0:0.0	.	747;666;678;850;747;850;747;805	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	H	747;805;747;851;850;747;505;805;678;666;639;84	ENSP00000325155:Q747H;ENSP00000347560:Q805H;ENSP00000352104:Q747H;ENSP00000404296:Q850H;ENSP00000299275:Q747H;ENSP00000440611:Q505H;ENSP00000439673:Q805H;ENSP00000400411:Q678H;ENSP00000439837:Q666H;ENSP00000440371:Q639H;ENSP00000443553:Q84H	ENSP00000299275:Q747H	Q	+	3	2	PLEKHA5	19380817	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.722000	0.74735	2.290000	0.77057	0.591000	0.81541	CAG		0.353	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012	Missense_Mutation	T	19489550	G	T	19489550	5	4	262	1	0	0	0	0	0	0	1	0	12059	1014	35	3	2428	3	PLEKHA5	12	19489550	Splice_Site	SNP	G	TCGA-24-1846-01A-01W-0639-09	8534870	19489550	114362345	70	14668											
KRT7	3855	genome.wustl.edu	37	12	52639292	52639292	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:52639292C>G	ENST00000331817.5	+	7	1264	c.1081C>G	c.(1081-1083)Ctg>Gtg	p.L361V	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	361	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GGAAGCCGCCCTGCAGCGGGG	0.642																																																0			12											45	46	46					12																	52639292		2203	4300	6503	50925559	SO:0001583	missense	3855				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1081C>G	12.37:g.52639292C>G	ENSP00000329243:p.Leu361Val		50925559	Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745893	0.49151	.	.	ENSG00000135480	ENST00000331817;ENST00000422319	D	0.91295	-2.82	4.4	4.4	0.53042	Filament (1);	0.000000	0.30118	N	0.010364	D	0.96614	0.8895	H	0.94734	3.575	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.97830	1.0262	10	0.87932	D	0	.	17.5702	0.87933	0.0:1.0:0.0:0.0	.	361	P08729	K2C7_HUMAN	V	361;337	ENSP00000329243:L361V	ENSP00000329243:L361V	L	+	1	2	KRT7	50925559	1.000000	0.71417	0.996000	0.52242	0.108000	0.19459	4.517000	0.60503	2.455000	0.83008	0.561000	0.74099	CTG		0.642	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		G	52639292	C	G	52639292	3	3	262	1	0	0	0	0	1	0	0	0	8483	680	24	3	1107	3	KRT7	12	52639292	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	33149742	52639292	81212603	71	14669											
CALCOCO1	57658	genome.wustl.edu	37	12	54117433	54117433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:54117433C>A	ENST00000550804.1	-	4	454	c.394G>T	c.(394-396)Gag>Tag	p.E132*	CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Nonsense_Mutation_p.E132*|CALCOCO1_ENST00000430117.2_Nonsense_Mutation_p.E99*|CALCOCO1_ENST00000548263.1_Nonsense_Mutation_p.E132*			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	132	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCATCAGCCTCCTCCAGGGTC	0.577																																																0			12											76	73	74					12																	54117433		2203	4300	6503	52403700	SO:0001587	stop_gained	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.394G>T	12.37:g.54117433C>A	ENSP00000449960:p.Glu132*		52403700	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Nonsense_Mutation	SNP	ENST00000550804.1	37	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	36	5.819133	0.96982	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549173;ENST00000548177	.	.	.	4.79	4.79	0.61399	.	0.000000	0.46442	D	0.000291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-22.687	17.4946	0.87714	0.0:1.0:0.0:0.0	.	.	.	.	X	99;132;132;132;125;9;132;132;132;132;152;132	.	ENSP00000262059:E132X	E	-	1	0	CALCOCO1	52403700	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.367000	0.59498	2.586000	0.87340	0.655000	0.94253	GAG		0.577	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		A	54117433	C	A	54117433	4	1	262	1	0	0	0	0	0	1	0	0	2577	864	30	3	1729	3	CALCOCO1	12	54117433	Nonsense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	1478141	54117433	79734462	72	14670											
POC1B	282809	genome.wustl.edu	37	12	89865474	89865474	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:89865474C>G	ENST00000313546.3	-	6	721	c.593G>C	c.(592-594)gGt>gCt	p.G198A	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Missense_Mutation_p.G156A|POC1B_ENST00000541909.1_Missense_Mutation_p.G68A|POC1B_ENST00000393179.4_Missense_Mutation_p.G68A|POC1B_ENST00000378528.2_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	198					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TATGCATGTACCACTAGGGTT	0.343																																																0			12											125	120	122					12																	89865474		2203	4300	6503	88389605	SO:0001583	missense	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.593G>C	12.37:g.89865474C>G	ENSP00000323302:p.Gly198Ala		88389605	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017425	0.93404	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909	D;D;D;D	0.84944	-1.9;-1.92;-1.9;-1.9	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94140	0.7396	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	198	Q8TC44	POC1B_HUMAN	A	68;198;156;68	ENSP00000376877:G68A;ENSP00000323302:G198A;ENSP00000447916:G156A;ENSP00000440301:G68A	ENSP00000323302:G198A	G	-	2	0	POC1B	88389605	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.611000	0.82962	2.857000	0.98124	0.650000	0.86243	GGT		0.343	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		G	89865474	C	G	89865474	3	3	262	1	0	0	0	0	1	0	0	0	12176	507	18	3	871	3	POC1B	12	89865474	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	35748041	89865474	43986421	73	14671											
CIDEB	27141	genome.wustl.edu	37	14	24775661	24775661	+	Silent	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr14:24775661G>A	ENST00000336557.5	-	6	1557	c.255C>T	c.(253-255)gaC>gaT	p.D85D	CIDEB_ENST00000258807.5_Silent_p.D85D|LTB4R2_ENST00000528054.1_5'Flank|NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000554411.1_Silent_p.D85D			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	85	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		AGTCCTCACTGTCCACTGCAG	0.557																																																0			14											225	175	192					14																	24775661		2203	4300	6503	23845501	SO:0001819	synonymous_variant	27141			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.255C>T	14.37:g.24775661G>A			23845501	D3DS73|Q546V8|Q9NNW9	Silent	SNP	ENST00000336557.5	37	CCDS32056.1																																																																																				0.557	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1			A	24775661	G	A	24775661	2	1	262	1	0	0	0	0	0	0	0	1	3426	1368	48	2		2	CIDEB	14	24775661	Silent	SNP	G	TCGA-24-1846-01A-01W-0639-09		24775661	82573879	74	14672											
PAPOLA	10914	genome.wustl.edu	37	14	97022190	97022190	+	Silent	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr14:97022190C>T	ENST00000216277.8	+	18	1891	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	PAPOLA_ENST00000392990.2_Silent_p.N557N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	557	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ttaGCAGAAACAGTCCTGCTC	0.303																																					NSCLC(19;254 734 11908 35501 39234)											0			14											68	71	70					14																	97022190		2203	4300	6503	96091943	SO:0001819	synonymous_variant	10914			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1671C>T	14.37:g.97022190C>T			96091943	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	C	8.207	0.799475	0.16397	.	.	ENSG00000090060	ENST00000556459	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	T	0.71160	0.3307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68194	-0.5473	4	.	.	.	.	14.5916	0.68368	0.0:0.9303:0.0:0.0697	.	.	.	.	I	58	.	.	T	+	2	0	PAPOLA	96091943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.783000	0.47766	2.906000	0.99361	0.655000	0.94253	ACA		0.303	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			T	97022190	C	T	97022190	2	4	262	1	0	0	0	0	0	0	0	1	11429	477	17	2		2	PAPOLA	14	97022190	Silent	SNP	C	TCGA-24-1846-01A-01W-0639-09	72246529	97022190	10327350	75	14673											
CINP	51550	genome.wustl.edu	37	14	102822194	102822194	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr14:102822194A>T	ENST00000216756.6	-	3	257	c.217T>A	c.(217-219)Tcg>Acg	p.S73T	CINP_ENST00000541568.2_Missense_Mutation_p.S73T|snoU13_ENST00000458912.1_RNA|CINP_ENST00000536961.2_Missense_Mutation_p.S88T	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	73					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						TTTTCCTTCGAGGCTGGGCTG	0.398																																																0			14											134	110	118					14																	102822194		2203	4300	6503	101891947	SO:0001583	missense	51550			AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.217T>A	14.37:g.102822194A>T	ENSP00000216756:p.Ser73Thr		101891947	F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	CCDS9972.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940281	0.34283	.	.	ENSG00000100865	ENST00000216756;ENST00000536961;ENST00000541568	T;T	0.48201	0.84;0.82	6.06	-0.471	0.12119	.	0.867992	0.10496	N	0.667880	T	0.35451	0.0932	L	0.50919	1.6	0.09310	N	1	P	0.43352	0.804	B	0.39217	0.294	T	0.20140	-1.0284	10	0.20519	T	0.43	0.065	6.5399	0.22375	0.4834:0.3824:0.1342:0.0	.	73	Q9BW66	CINP_HUMAN	T	73;88;73	ENSP00000216756:S73T;ENSP00000442057:S88T	ENSP00000216756:S73T	S	-	1	0	CINP	101891947	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.721000	0.38032	-0.297000	0.08934	-2.262000	0.00279	TCG		0.398	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		T	102822194	A	T	102822194	3	4	262	1	0	0	0	0	1	0	0	0	3431	304	11	5	433	5	CINP	14	102822194	Missense_Mutation	SNP	A	TCGA-24-1846-01A-01W-0639-09	5800004	102822194	4527346	76	14674											
MYO5A	4644	genome.wustl.edu	37	15	52662503	52662503	+	Missense_Mutation	SNP	C	C	T	rs373690028		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr15:52662503C>T	ENST00000399231.3	-	22	3172	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	MYO5A_ENST00000356338.6_Missense_Mutation_p.E977K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E977K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E977K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E977K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	977					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTTTCGCTTCCTCTTCACTT	0.448																																																0			15						C	LYS/GLU,LYS/GLU	0,3748		0,0,1874	102	95	97		2929,2929	5.7	1	15		97	1,8195		0,1,4097	no	missense,missense	MYO5A	NM_000259.3,NM_001142495.1	56,56	0,1,5971	TT,TC,CC		0.0122,0.0,0.0084	benign,benign	977/1856,977/1829	52662503	1,11943	1874	4098	5972	50449795	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2929G>A	15.37:g.52662503C>T	ENSP00000382177:p.Glu977Lys		50449795	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376432	0.95945	0.0	1.22E-4	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.69	5.69	0.88448	.	0.101382	0.64402	D	0.000003	T	0.29423	0.0733	L	0.43923	1.385	0.80722	D	1	P;D	0.55385	0.848;0.971	B;P	0.47941	0.272;0.562	T	0.01222	-1.1414	10	0.66056	D	0.02	.	19.8165	0.96571	0.0:1.0:0.0:0.0	.	977;977	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	K	977;511;977;977;977;607;977	ENSP00000382177:E977K;ENSP00000382179:E977K;ENSP00000348693:E977K;ENSP00000350945:E977K;ENSP00000451109:E977K	ENSP00000348693:E977K	E	-	1	0	MYO5A	50449795	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.264000	0.65513	2.683000	0.91414	0.655000	0.94253	GAA		0.448	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		T	52662503	C	T	52662503	3	4	262	1	0	0	0	0	1	0	0	0	10078	864	30	2	2718	2	MYO5A	15	52662503	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09		52662503	49868889	77	14675											
GRIN2A	2903	genome.wustl.edu	37	16	9858426	9858426	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr16:9858426T>G	ENST00000396573.2	-	14	3284	c.2975A>C	c.(2974-2976)aAc>aCc	p.N992T	GRIN2A_ENST00000330684.3_Missense_Mutation_p.N992T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N992T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.N992T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N835T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N992T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	992					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGTGTTAGGGTTGGACTCATT	0.493																																																0			16											117	105	109					16																	9858426		2197	4300	6497	9765927	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2975A>C	16.37:g.9858426T>G	ENSP00000379818:p.Asn992Thr		9765927	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577436	0.45902	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11821	2.74;2.74;2.75;2.74;2.74	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.040645	0.85682	D	0.000000	T	0.35008	0.0917	M	0.65975	2.015	0.58432	D	0.999999	B;P;D	0.69078	0.42;0.475;0.997	B;P;D	0.79108	0.341;0.472;0.992	T	0.03695	-1.1012	9	.	.	.	.	14.4977	0.67700	0.0:0.0:0.0:1.0	.	835;992;992	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	992;992;835;992;992	ENSP00000379818:N992T;ENSP00000385872:N992T;ENSP00000441572:N835T;ENSP00000332549:N992T;ENSP00000379820:N992T	.	N	-	2	0	GRIN2A	9765927	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.860000	0.69546	2.016000	0.59253	0.533000	0.62120	AAC		0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			G	9858426	T	G	9858426	3	3	262	1	0	0	0	0	1	0	0	0	6779	1725	60	5	1423	5	GRIN2A	16	9858426	Missense_Mutation	SNP	T	TCGA-24-1846-01A-01W-0639-09		9858426	80496327	78	14676											
SLC12A3	6559	genome.wustl.edu	37	16	56920284	56920284	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr16:56920284G>A	ENST00000563236.1	+	16	1959	c.1934G>A	c.(1933-1935)tGc>tAc	p.C645Y	SLC12A3_ENST00000262502.5_Missense_Mutation_p.C644Y|SLC12A3_ENST00000438926.2_Missense_Mutation_p.C645Y|SLC12A3_ENST00000566786.1_Missense_Mutation_p.C644Y			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	645					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGCCCCCAGTGCCTGGTGCTC	0.662																																																0			16											39	40	40					16																	56920284		2198	4300	6498	55477785	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1934G>A	16.37:g.56920284G>A	ENSP00000456149:p.Cys645Tyr		55477785	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486873	0.84854	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.07	5.07	0.68467	Amino acid permease domain (1);	0.101921	0.64402	D	0.000001	D	0.85120	0.5624	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	0.962;1.0;0.993	P;D;D	0.97110	0.783;1.0;0.969	D	0.88322	0.2963	9	0.87932	D	0	.	18.4751	0.90790	0.0:0.0:1.0:0.0	.	644;645;645	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Y	644;645	.	ENSP00000262502:C645Y	C	+	2	0	SLC12A3	55477785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.335000	0.79485	0.563000	0.77884	TGC		0.662	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			A	56920284	G	A	56920284	3	1	262	1	0	0	0	0	1	0	0	0	14387	1319	46	2	1996	2	SLC12A3	16	56920284	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	47061858	56920284	33434469	79	14677											
OR1E1	8387	genome.wustl.edu	37	17	3301658	3301658	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:3301658C>T	ENST00000322608.2	-	1	46	c.47G>A	c.(46-48)gGc>gAc	p.G16D		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	16					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						GATGGGCAGGCCCAGGAGCAG	0.468																																																0			17											57	60	59					17																	3301658		2203	4296	6499	3248408	SO:0001583	missense	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.47G>A	17.37:g.3301658C>T	ENSP00000313384:p.Gly16Asp		3248408	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741776	0.69304	.	.	ENSG00000180016	ENST00000322608	T	0.00655	5.95	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000007	T	0.06554	0.0168	H	0.94222	3.51	0.44694	D	0.997685	D	0.71674	0.998	D	0.74348	0.983	T	0.00304	-1.1832	10	0.87932	D	0	.	12.4688	0.55775	0.0:0.8298:0.1702:0.0	.	16	P30953	OR1E1_HUMAN	D	16	ENSP00000313384:G16D	ENSP00000313384:G16D	G	-	2	0	OR1E1	3248408	0.920000	0.31207	0.998000	0.56505	0.943000	0.58893	2.792000	0.47837	2.285000	0.76669	0.558000	0.71614	GGC		0.468	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		T	3301658	C	T	3301658	3	4	262	1	0	0	0	0	1	0	0	0	10954	739	26	2	901	2	OR1E1	17	3301658	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09		3301658	77893552	80	14678											
ALOX15	246	genome.wustl.edu	37	17	4541927	4541927	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:4541927C>A	ENST00000570836.1	-	6	691	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	ALOX15_ENST00000293761.3_Missense_Mutation_p.D199Y|ALOX15_ENST00000545513.1_Missense_Mutation_p.D221Y|ALOX15_ENST00000574640.1_Missense_Mutation_p.D160Y			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	199	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TCATCTAGATCCTTCCAGCAA	0.547																																																0			17											69	69	69					17																	4541927		2203	4300	6503	4488676	SO:0001583	missense	246			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.595G>T	17.37:g.4541927C>A	ENSP00000458832:p.Asp199Tyr		4488676	A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771199	0.49680	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.77358	-1.09;-1.09	5.08	-4.61	0.03380	Lipoxygenase, C-terminal (3);	0.733508	0.12599	N	0.454860	T	0.68403	0.2997	L	0.49126	1.545	0.09310	N	1	P;P;P	0.41498	0.708;0.752;0.752	B;B;B	0.42593	0.381;0.392;0.392	T	0.63161	-0.6699	10	0.62326	D	0.03	1.1687	7.1819	0.25778	0.0:0.3294:0.1244:0.5462	.	221;160;199	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	Y	199;221	ENSP00000293761:D199Y;ENSP00000439855:D221Y	ENSP00000293761:D199Y	D	-	1	0	ALOX15	4488676	0.000000	0.05858	0.000000	0.03702	0.924000	0.55760	-1.426000	0.02443	-0.688000	0.05155	0.561000	0.74099	GAT		0.547	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			A	4541927	C	A	4541927	3	1	262	1	0	0	0	0	1	0	0	0	538	855	30	3	1433	3	ALOX15	17	4541927	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	1240269	4541927	76653283	81	14679											
MINK1	100130311	genome.wustl.edu	37	17	4799853	4799853	+	5'Flank	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:4799853C>T	ENST00000381365.3	+	0	0				MINK1_ENST00000347992.7_Silent_p.L1220L|MINK1_ENST00000453408.3_Silent_p.L1229L|MINK1_ENST00000355280.6_Silent_p.L1249L|C17orf107_ENST00000521575.1_5'Flank	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107											endometrium(2)	2						GGATGTGGTGCTGCAGTGGGG	0.637																																																0			17											88	94	92					17																	4799853		2184	4274	6458	4740629	SO:0001631	upstream_gene_variant	50488			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		17.37:g.4799853C>T	Exception_encountered		4740629		Missense_Mutation	SNP	ENST00000381365.3	37	CCDS45591.1																																																																																				0.637	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380556.1	NM_001145536		T	4799853	C	T	4799853	1	4	262	0	1	0	0	0	0	0	0	0	9587	796	28	2		2	MINK1	17	4799853	5'Flank	SNP	C	TCGA-24-1846-01A-01W-0639-09	257926	4799853	76395357	82	14680											
TP53	7157	genome.wustl.edu	37	17	7578484	7578485	+	Frame_Shift_Ins	INS	-	-	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:7578484_7578485insA	ENST00000269305.4	-	5	634_635	c.445_446insT	c.(445-447)tccfs	p.S149fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S149fs	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	149	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S149F(6)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(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)	CGGGGGTGTGGAATCAACCCAC	0.604		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"	35	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	upper_aerodigestive_tract(5)|breast(5)|lung(4)|bone(4)|central_nervous_system(3)|skin(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|thyroid(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|liver(1)|oesophagus(1)	17																																								7519210	SO:0001589	frameshift_variant	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.446dupT	17.37:g.7578486_7578486dupA	ENSP00000269305:p.Ser149fs		7519209	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578485	-	A	7578484	7	5	262	1	0	1	1	0	0	0	0	0	16381	1174	41	0	852	0	TP53	17	7578484	Frame_Shift_Ins	INS	-	TCGA-24-1846-01A-01W-0639-09	2778631	7578484	73616726	83	14681											
RAI1	10743	genome.wustl.edu	37	17	17700127	17700134	+	Frame_Shift_Del	DEL	GCCACAAA	GCCACAAA	-			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	GCCACAAA	GCCACAAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:17700127_17700134delGCCACAAA	ENST00000353383.1	+	3	4334_4341	c.3865_3872delGCCACAAA	c.(3865-3873)gccacaaagfs	p.ATK1289fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.ATK1289fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1289					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGCGAGCCTGCCACAAAGCTCCCACCC	0.649																																																0			17																																								17640859	SO:0001589	frameshift_variant	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3865_3872delGCCACAAA	17.37:g.17700127_17700134delGCCACAAA	ENSP00000323074:p.Ala1289fs		17640852	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	ENST00000353383.1	37	CCDS11188.1																																																																																				0.649	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		-	17700134	GCCACAAA	-	17700127	7	5	262	1	0	1	0	1	0	0	0	0	13010	1319	46	0	3867	0	RAI1	17	17700127	Frame_Shift_Del	DEL	GCCACAAA	TCGA-24-1846-01A-01W-0639-09	10121643	17700127	63495083	84	14682											
SLC6A4	6532	genome.wustl.edu	37	17	28536242	28536242	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:28536242T>C	ENST00000401766.2	-	11	1980	c.1468A>G	c.(1468-1470)Aag>Gag	p.K490E	RP11-354P11.4_ENST00000581633.1_RNA|SLC6A4_ENST00000261707.3_Missense_Mutation_p.K490E			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	490					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TCCAGCAGCTTCACCACGTAG	0.627																																																0			17											61	56	58					17																	28536242		2203	4300	6503	25560368	SO:0001583	missense	6532			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1468A>G	17.37:g.28536242T>C	ENSP00000385822:p.Lys490Glu		25560368	Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784467	0.31593	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.73575	-0.76;-0.76	5.8	4.72	0.59763	.	0.098369	0.64402	N	0.000001	T	0.67211	0.2869	L	0.33624	1.015	0.46260	D	0.99895	B	0.14438	0.01	B	0.32211	0.142	T	0.63211	-0.6688	10	0.54805	T	0.06	.	10.9573	0.47364	0.0:0.0733:0.0:0.9267	.	490	P31645	SC6A4_HUMAN	E	532;490;490	ENSP00000385822:K490E;ENSP00000261707:K490E	ENSP00000261707:K490E	K	-	1	0	SLC6A4	25560368	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	1.021000	0.39600	0.482000	0.46254	AAG		0.627	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		C	28536242	T	C	28536242	3	2	262	1	0	0	0	0	1	0	0	0	14689	1792	62	4	440	4	SLC6A4	17	28536242	Missense_Mutation	SNP	T	TCGA-24-1846-01A-01W-0639-09	10836115	28536242	52658968	85	14683											
SLC6A4	6532	genome.wustl.edu	37	17	28545857	28545857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:28545857C>A	ENST00000401766.2	-	3	948	c.436G>T	c.(436-438)Gga>Tga	p.G146*	SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.G146*			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	146					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GAAATGCATCCATTTCGGTGG	0.522																																																0			17											130	130	130					17																	28545857		2203	4300	6503	25569983	SO:0001587	stop_gained	6532			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.436G>T	17.37:g.28545857C>A	ENSP00000385822:p.Gly146*		25569983	Q5EE02	Nonsense_Mutation	SNP	ENST00000401766.2	37	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	C	42	9.585302	0.99211	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8371	0.92167	0.0:1.0:0.0:0.0	.	.	.	.	X	188;146;146	.	ENSP00000261707:G146X	G	-	1	0	SLC6A4	25569983	1.000000	0.71417	0.966000	0.40874	0.971000	0.66376	7.814000	0.86154	2.689000	0.91719	0.655000	0.94253	GGA		0.522	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		A	28545857	C	A	28545857	4	1	262	1	0	0	0	0	0	1	0	0	14689	603	21	3	1504	3	SLC6A4	17	28545857	Nonsense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	9615	28545857	52649353	86	14684											
BRCA1	672	genome.wustl.edu	37	17	41244082	41244083	+	Frame_Shift_Ins	INS	-	-	ATCTAACA			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:41244082_41244083insATCTAACA	ENST00000357654.3	-	10	3583_3584	c.3465_3466insTGTTAGAT	c.(3463-3468)gatgatfs	p.D1156fs	BRCA1_ENST00000309486.4_Frame_Shift_Ins_p.D860fs|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Ins_p.D1109fs|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Ins_p.D1156fs|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Frame_Shift_Ins_p.D1156fs|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Ins_p.D1156fs|BRCA1_ENST00000351666.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1156					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTTCACCATCATCTAACAGGT	0.396			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17																																								38497609	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3458_3465dupTGTTAGAT	17.37:g.41244083_41244090dupATCTAACA	ENSP00000350283:p.Asp1156fs		38497608	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Ins	INS	ENST00000357654.3	37	CCDS11453.1																																																																																				0.396	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		ATCTAACA	41244083	-	ATCTAACA	41244082	7	5	262	1	0	1	1	0	0	0	0	0	1498	826	29	0	2251	0	BRCA1	17	41244082	Frame_Shift_Ins	INS	-	TCGA-24-1846-01A-01W-0639-09	12698225	41244082	39951128	87	14685											
CCDC40	55036	genome.wustl.edu	37	17	78023969	78023969	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:78023969A>T	ENST00000397545.4	+	7	1073	c.1046A>T	c.(1045-1047)cAc>cTc	p.H349L	CCDC40_ENST00000269318.5_Missense_Mutation_p.H349L|CCDC40_ENST00000374876.4_Missense_Mutation_p.H349L|CCDC40_ENST00000374877.3_Missense_Mutation_p.H349L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	349					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGAAGAGTCACGACCGCCAC	0.652																																																0			17											17	22	20					17																	78023969		2145	4262	6407	75638564	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1046A>T	17.37:g.78023969A>T	ENSP00000380679:p.His349Leu		75638564	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.516737	0.44763	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.53423	0.64;2.03;0.63;0.62	4.85	3.76	0.43208	.	.	.	.	.	T	0.64962	0.2646	M	0.78637	2.42	0.36502	D	0.869067	D;B;B	0.71674	0.998;0.078;0.206	D;B;B	0.66979	0.948;0.034;0.133	T	0.73777	-0.3876	9	0.72032	D	0.01	-37.3722	10.1177	0.42601	0.9204:0.0:0.0796:0.0	.	349;349;132	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	L	349	ENSP00000364011:H349L;ENSP00000269318:H349L;ENSP00000364010:H349L;ENSP00000380679:H349L	ENSP00000269318:H349L	H	+	2	0	CCDC40	75638564	0.996000	0.38824	0.995000	0.50966	0.556000	0.35491	3.677000	0.54619	1.932000	0.55993	0.533000	0.62120	CAC		0.652	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		T	78023969	A	T	78023969	3	4	262	1	0	0	0	0	1	0	0	0	2812	159	6	5	1072	5	CCDC40	17	78023969	Missense_Mutation	SNP	A	TCGA-24-1846-01A-01W-0639-09	36779887	78023969	3171241	88	14686											
CEP192	55125	genome.wustl.edu	37	18	13124739	13124739	+	Silent	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr18:13124739A>G	ENST00000325971.8	+	43	7389	c.5796A>G	c.(5794-5796)cgA>cgG	p.R1932R	CEP192_ENST00000506447.1_Silent_p.R2528R|CEP192_ENST00000430049.2_Silent_p.R2053R|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1932					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGCTATTCGACTAATTGGTG	0.338																																																0			18											57	56	56					18																	13124739		2203	4300	6503	13114739	SO:0001819	synonymous_variant	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5796A>G	18.37:g.13124739A>G			13114739	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37																																																																																					0.338	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		G	13124739	A	G	13124739	2	3	262	1	0	0	0	0	0	0	0	1	3251	262	10	4		4	CEP192	18	13124739	Silent	SNP	A	TCGA-24-1846-01A-01W-0639-09		13124739	64952509	89	14687											
ZNF24	7572	genome.wustl.edu	37	18	32920347	32920347	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr18:32920347G>C	ENST00000261332.6	-	2	447	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E	ZNF24_ENST00000399061.3_Missense_Mutation_p.Q90E|ZNF24_ENST00000589881.1_Missense_Mutation_p.Q90E	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	90	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCCAAGATTTGTTCTTTTGTG	0.542																																					Colon(42;769 913 8916 19469 46270)											0			18											162	164	163					18																	32920347		2203	4300	6503	31174345	SO:0001583	missense	7572			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.268C>G	18.37:g.32920347G>C	ENSP00000261332:p.Gln90Glu		31174345	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852971	0.51270	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.07021	3.23;3.23	4.38	4.38	0.52667	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.47093	D	0.000256	T	0.36331	0.0963	M	0.92077	3.27	0.36734	D	0.881849	D;P	0.56035	0.974;0.899	D;P	0.67725	0.953;0.822	T	0.56786	-0.7921	10	0.87932	D	0	.	14.8443	0.70249	0.0:0.0:1.0:0.0	.	90;90	P17028-2;P17028	.;ZNF24_HUMAN	E	90	ENSP00000261332:Q90E;ENSP00000382015:Q90E	ENSP00000261332:Q90E	Q	-	1	0	ZNF24	31174345	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.264000	0.65513	2.446000	0.82766	0.650000	0.86243	CAA		0.542	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		C	32920347	G	C	32920347	3	2	262	1	0	0	0	0	1	0	0	0	17792	1386	48	3	850	3	ZNF24	18	32920347	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	19795608	32920347	45156901	90	14688											
DOCK6	57572	genome.wustl.edu	37	19	11312613	11312613	+	Silent	SNP	G	G	A	rs200959822	byFrequency	TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr19:11312613G>A	ENST00000294618.7	-	44	5651	c.5640C>T	c.(5638-5640)caC>caT	p.H1880H	DOCK6_ENST00000319867.7_Silent_p.H1219H|DOCK6_ENST00000586702.1_5'UTR|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1880	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGGGGAAGGCGTGGTCGGTGC	0.657													G|||	2	0.000399361	0.0015	0	5008	,	,		11923	0		0	False		,,,				2504	0															0			19						G		2,4260		0,2,2129	69	73	72		5640	-0.1	1	19		72	12,8428		0,12,4208	no	coding-synonymous	DOCK6	NM_020812.2		0,14,6337	AA,AG,GG		0.1422,0.0469,0.1102		1880/2048	11312613	14,12688	2131	4220	6351	11173613	SO:0001819	synonymous_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5640C>T	19.37:g.11312613G>A			11173613	A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	CCDS45975.1																																																																																				0.657	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11312613	G	A	11312613	2	1	262	1	0	0	0	0	0	0	0	1	4691	1136	40	1		1	DOCK6	19	11312613	Silent	SNP	G	TCGA-24-1846-01A-01W-0639-09		11312613	47816370	91	14689											
OR10H4	126541	genome.wustl.edu	37	19	16060230	16060230	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr19:16060230G>A	ENST00000322107.1	+	1	413	c.413G>A	c.(412-414)aGc>aAc	p.S138N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GTGCTCATGAGCCCCCGTGAC	0.542																																																0			19											204	173	183					19																	16060230		2203	4300	6503	15921230	SO:0001583	missense	126541			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.413G>A	19.37:g.16060230G>A	ENSP00000318834:p.Ser138Asn		15921230	Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.592165	0.00864	.	.	ENSG00000176231	ENST00000322107	T	0.38887	1.11	1.53	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.284162	0.24967	U	0.034169	T	0.24624	0.0597	L	0.38838	1.175	0.09310	N	1	B	0.16802	0.019	B	0.21151	0.033	T	0.12268	-1.0554	10	0.12430	T	0.62	.	3.9006	0.09159	0.2383:0.0:0.7617:0.0	.	138	Q8NGA5	O10H4_HUMAN	N	138	ENSP00000318834:S138N	ENSP00000318834:S138N	S	+	2	0	OR10H4	15921230	0.000000	0.05858	0.117000	0.21633	0.183000	0.23260	-1.996000	0.01471	0.828000	0.34709	0.471000	0.43371	AGC		0.542	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			A	16060230	G	A	16060230	3	1	262	1	0	0	0	0	1	0	0	0	10908	971	34	2	415	2	OR10H4	19	16060230	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	4747617	16060230	43068753	92	14690											
GRIN2D	2906	genome.wustl.edu	37	19	48922827	48922843	+	Splice_Site	DEL	CCTGGCCCCCTGCAGGC	CCTGGCCCCCTGCAGGC	-			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	CCTGGCCCCCTGCAGGC	CCTGGCCCCCTGCAGGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr19:48922827_48922843delCCTGGCCCCCTGCAGGC	ENST00000263269.3	+	9	1949_1951	c.1861_1863delCCTGGCCCCCTGCAGGC	c.(1861-1863)cctdel	p.P622fs		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	622					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTT	0.548																																																0			19																																								53614655	SO:0001630	splice_region_variant	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1862-1CCTGGCCCCCTGCAGGC>-	19.37:g.48922827_48922843delCCTGGCCCCCTGCAGGC			53614639		Splice_Site	DEL	ENST00000263269.3	37	CCDS12719.1																																																																																				0.548	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		Frame_Shift_Del	-	48922843	CCTGGCCCCCTGCAGGC	-	48922827	8	5	262	1	0	1	0	1	0	0	1	0	6782	870	30	0		0	GRIN2D	19	48922827	Splice_Site	DEL	CCTGGCCCCCTGCAGGC	TCGA-24-1846-01A-01W-0639-09	32862597	48922827	10206156	93	14691											
DPRX	503834	genome.wustl.edu	37	19	54135380	54135380	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr19:54135380T>G	ENST00000376650.1	+	1	71	c.20T>G	c.(19-21)cTt>cGt	p.L7R	RN7SL317P_ENST00000497408.2_RNA	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TCAGAGGATCTTCGTAAAGGT	0.507																																																0			19											127	123	124					19																	54135380		2203	4300	6503	58827192	SO:0001583	missense	503834				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"Homeoboxes / PRD class"	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.20T>G	19.37:g.54135380T>G	ENSP00000365838:p.Leu7Arg		58827192		Missense_Mutation	SNP	ENST00000376650.1	37	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	T	5.231	0.228198	0.09916	.	.	ENSG00000204595	ENST00000376650	D	0.94576	-3.46	1.89	0.827	0.18835	Homeodomain-related (1);	.	.	.	.	D	0.91119	0.7204	L	0.36672	1.1	0.09310	N	0.999999	D	0.69078	0.997	P	0.54590	0.756	T	0.82242	-0.0554	9	0.11182	T	0.66	.	3.8009	0.08758	0.0:0.2008:0.0:0.7992	.	7	A6NFQ7	DPRX_HUMAN	R	7	ENSP00000365838:L7R	ENSP00000365838:L7R	L	+	2	0	DPRX	58827192	0.001000	0.12720	0.301000	0.25044	0.053000	0.15095	-0.674000	0.05233	0.191000	0.20236	0.397000	0.26171	CTT		0.507	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		G	54135380	T	G	54135380	3	3	262	1	0	0	0	0	1	0	0	0	4738	1609	56	5	22	5	DPRX	19	54135380	Missense_Mutation	SNP	T	TCGA-24-1846-01A-01W-0639-09	5212553	54135380	4993603	94	14692											
RALGAPA2	57186	genome.wustl.edu	37	20	20553599	20553599	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr20:20553599C>G	ENST00000202677.7	-	21	2828	c.2821G>C	c.(2821-2823)Gat>Cat	p.D941H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	941					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTATTCACATCTCCGAGGATC	0.493																																																0			20											49	49	49					20																	20553599		1904	4134	6038	20501599	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2821G>C	20.37:g.20553599C>G	ENSP00000202677:p.Asp941His		20501599	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.597573|4.597573	0.87055|0.87055	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.74737|.	-0.87|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83156|0.83156	0.5193|0.5193	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.996|.	T|T	0.82694|0.82694	-0.0330|-0.0330	10|5	0.56958|.	D|.	0.05|.	.|.	20.5666|20.5666	0.99351|0.99351	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	779;941|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	H|D	941|757	ENSP00000202677:D941H|.	ENSP00000202677:D941H|.	D|E	-|-	1|3	0|2	RALGAPA2|RALGAPA2	20501599|20501599	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.600000|0.600000	0.36913|0.36913	7.770000|7.770000	0.85390|0.85390	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.493	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		G	20553599	C	G	20553599	3	3	262	1	0	0	0	0	1	0	0	0	13017	913	32	3	2876	3	RALGAPA2	20	20553599	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09		20553599	42471921	95	14693											
RBM12	10137	genome.wustl.edu	37	20	34243208	34243208	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr20:34243208C>A	ENST00000374114.3	-	3	300	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000352393.4_5'UTR|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_5'UTR|RBM12_ENST00000359646.1_Missense_Mutation_p.V13L|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V145L|CPNE1_ENST00000317619.3_5'UTR|RBM12_ENST00000374104.3_Missense_Mutation_p.V13L	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	13						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTCCCCGCCACAATTGGGAGA	0.542											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			20											54	57	56					20																	34243208		2203	4300	6503	33706622	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.37G>T	20.37:g.34243208C>A	ENSP00000363228:p.Val13Leu	846	33706622	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890806	0.33348	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458;ENST00000431148;ENST00000435161	T;T;T;T;T;T	0.23147	3.15;3.15;3.15;1.92;2.27;2.29	5.22	4.28	0.50868	.	0.000000	0.64402	D	0.000002	T	0.17323	0.0416	N	0.19112	0.55	0.80722	D	1	B	0.22276	0.067	B	0.20184	0.028	T	0.04400	-1.0954	9	.	.	.	-7.7456	15.3996	0.74827	0.14:0.86:0.0:0.0	.	13	Q9NTZ6	RBM12_HUMAN	L	13	ENSP00000363228:V13L;ENSP00000352668:V13L;ENSP00000363217:V13L;ENSP00000411036:V13L;ENSP00000392642:V13L;ENSP00000411692:V13L	.	V	-	1	0	RBM12	33706622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.516000	0.60496	1.430000	0.47334	0.655000	0.94253	GTG		0.542	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		A	34243208	C	A	34243208	3	1	262	1	0	0	0	0	1	0	0	0	13116	478	17	3	2765	3	RBM12	20	34243208	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	13689609	34243208	28782312	96	14694											
ZNF295	49854	genome.wustl.edu	37	21	43411520	43411520	+	Silent	SNP	T	T	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr21:43411520T>A	ENST00000310826.5	-	3	2868	c.2685A>T	c.(2683-2685)acA>acT	p.T895T	ZBTB21_ENST00000398505.3_Silent_p.T694T|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Silent_p.T895T|ZBTB21_ENST00000398499.1_Silent_p.T895T	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	895					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CTTTGGGGGCTGTGCTGGCCT	0.562																																																0			21											57	62	60					21																	43411520		2203	4300	6503	42284589	SO:0001819	synonymous_variant	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2685A>T	21.37:g.43411520T>A			42284589	Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	CCDS13678.1																																																																																				0.562	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		A	43411520	T	A	43411520	2	1	262	1	0	0	0	0	0	0	0	1	17827	1567	55	5		5	ZNF295	21	43411520	Silent	SNP	T	TCGA-24-1846-01A-01W-0639-09		43411520	4718375	97	14695											
CECR2	27443	genome.wustl.edu	37	22	18016828	18016828	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr22:18016828C>T	ENST00000400585.2	+	10	1094	c.656C>T	c.(655-657)gCa>gTa	p.A219V	CECR2_ENST00000400573.5_Missense_Mutation_p.A360V|CECR2_ENST00000342247.5_Missense_Mutation_p.A332V|CECR2_ENST00000262608.8_Missense_Mutation_p.A361V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	402					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAAGAAAGGGCATGGCTGCTG	0.502																																																0			22											82	87	86					22																	18016828		1984	4155	6139	16396828	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.656C>T	22.37:g.18016828C>T	ENSP00000383428:p.Ala219Val		16396828	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	C	35	5.527195	0.96431	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.28895	2.04;1.75;1.76;1.59	5.43	5.43	0.79202	.	0.000000	0.53938	D	0.000060	T	0.55847	0.1946	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.55335	-0.8157	10	0.72032	D	0.01	-22.201	19.4202	0.94719	0.0:1.0:0.0:0.0	.	402;219;360	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	332;219;360;361	ENSP00000341219:A332V;ENSP00000383428:A219V;ENSP00000383417:A360V;ENSP00000262608:A361V	ENSP00000262608:A361V	A	+	2	0	CECR2	16396828	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.172000	0.77604	2.825000	0.97269	0.655000	0.94253	GCA		0.502	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		T	18016828	C	T	18016828	3	4	262	1	0	0	0	0	1	0	0	0	3206	710	25	2	1115	2	CECR2	22	18016828	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09		18016828	33287738	98	14696											
CCDC157	550631	genome.wustl.edu	37	22	30766773	30766773	+	Silent	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr22:30766773C>G	ENST00000405659.1	+	5	1588	c.879C>G	c.(877-879)ctC>ctG	p.L293L	CCDC157_ENST00000338306.3_Silent_p.L293L			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	293										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGGAGGCCCTCAGGGCCCAGC	0.682																																																0			22											29	29	29					22																	30766773		2202	4300	6502	29096773	SO:0001819	synonymous_variant	0			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.879C>G	22.37:g.30766773C>G			29096773	Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	CCDS33632.2																																																																																				0.682	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		G	30766773	C	G	30766773	2	3	262	1	0	0	0	0	0	0	0	1	2789	813	29	3		3	CCDC157	22	30766773	Silent	SNP	C	TCGA-24-1846-01A-01W-0639-09	12749945	30766773	20537793	99	14697											
PVALB	5816	genome.wustl.edu	37	22	37209723	37209723	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr22:37209723C>A	ENST00000216200.5	-	4	326	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	PVALB_ENST00000404171.1_Missense_Mutation_p.D59Y|CITF22-24E5.1_ENST00000417792.1_RNA|PVALB_ENST00000417718.2_Missense_Mutation_p.D91Y	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						CCATCTTTGTCTCCAGCAGCC	0.517																																																0			22											169	150	156					22																	37209723		2203	4300	6503	35539669	SO:0001583	missense	5816				CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"EF-hand domain containing"	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.271G>T	22.37:g.37209723C>A	ENSP00000216200:p.Asp91Tyr		35539669	B2R4H7|P78378|Q4VB78|Q5R3Q9	Missense_Mutation	SNP	ENST00000216200.5	37	CCDS13933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	20.7|20.7	4.041583|4.041583	0.75732|0.75732	.|.	.|.	ENSG00000100362|ENSG00000100362	ENST00000417718;ENST00000216200;ENST00000404171;ENST00000443735|ENST00000406910	D;D;D;D|.	0.93811|.	-2.83;-2.83;-2.83;-3.29|.	5.41|5.41	5.41|5.41	0.78517|0.78517	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90710|0.90710	0.7085|0.7085	H|H	0.97896|0.97896	4.1|4.1	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94003|0.94003	0.7277|0.7277	10|5	0.87932|.	D|.	0|.	-9.5338|-9.5338	19.2254|19.2254	0.93816|0.93816	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	91|.	P20472|.	PRVA_HUMAN|.	Y|D	91;91;59;91|89	ENSP00000400247:D91Y;ENSP00000216200:D91Y;ENSP00000386089:D59Y;ENSP00000406977:D91Y|.	ENSP00000216200:D91Y|.	D|E	-|-	1|3	0|2	PVALB|PVALB	35539669|35539669	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.541000|0.541000	0.35023|0.35023	7.443000|7.443000	0.80521|0.80521	2.541000|2.541000	0.85698|0.85698	0.645000|0.645000	0.84053|0.84053	GAC|GAG		0.517	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318857.1	NM_002854		A	37209723	C	A	37209723	3	1	262	1	0	0	0	0	1	0	0	0	12839	913	32	3	69	3	PVALB	22	37209723	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	6442950	37209723	14094843	100	14698											
TRIOBP	11078	genome.wustl.edu	37	22	38155502	38155502	+	Intron	SNP	A	A	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr22:38155502A>C	ENST00000406386.3	+	17	6579				TRIOBP_ENST00000403663.2_Intron|TRIOBP_ENST00000407319.2_Missense_Mutation_p.T422P	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein						actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.T422P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					gcccaaggtcaccccgcctgc	0.572																																																1	Substitution - Missense(1)	prostate(1)	22											65	63	64					22																	38155502		2203	4300	6503	36485448	SO:0001627	intron_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6324+231A>C	22.37:g.38155502A>C			36485448	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.511869	0.00984	.	.	ENSG00000100106	ENST00000407319	.	.	.	4.98	-1.87	0.07737	.	.	.	.	.	T	0.14787	0.0357	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18178	-1.0345	8	0.56958	D	0.05	.	1.3255	0.02124	0.393:0.3:0.1767:0.1303	.	422	F2Z2W0	.	P	422	.	ENSP00000383913:T422P	T	+	1	0	TRIOBP	36485448	0.034000	0.19679	0.001000	0.08648	0.310000	0.27922	0.008000	0.13197	-0.509000	0.06532	0.523000	0.50628	ACC		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			C	38155502	A	C	38155502	1	2	262	0	1	0	0	0	0	0	0	0	16553	159	6	5		5	TRIOBP	22	38155502	Intron	SNP	A	TCGA-24-1846-01A-01W-0639-09	945779	38155502	13149064	101	14699											
ZNF182	7569	genome.wustl.edu	37	X	47842383	47842383	+	Silent	SNP	C	C	T	rs186734046		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:47842383C>T	ENST00000396965.1	-	6	605	c.255G>A	c.(253-255)ccG>ccA	p.P85P	ZNF182_ENST00000376943.3_Silent_p.P66P|ZNF182_ENST00000305127.6_Silent_p.P85P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTCCTTCTGCCGGGCATTCTT	0.488													C|||	2	0.000529801	0	0	3775	,	,		13916	0.002		0	False		,,,				2504	0															0			X											106	86	93					X																	47842383		2203	4300	6503	47727327	SO:0001819	synonymous_variant	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.255G>A	X.37:g.47842383C>T			47727327	A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	CCDS35236.1																																																																																				0.488	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		T	47842383	C	T	47842383	2	4	262	1	0	0	0	0	0	0	0	1	17750	639	23	1		1	ZNF182	23	47842383	Silent	SNP	C	TCGA-24-1846-01A-01W-0639-09		47842383	107428177	102	14700											
DLG3	1741	genome.wustl.edu	37	X	69719792	69719792	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:69719792G>A	ENST00000374360.3	+	16	2271	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000194900.4_Missense_Mutation_p.E712K|DLG3_ENST00000542398.1_Missense_Mutation_p.E229K|DLG3_ENST00000374355.3_Missense_Mutation_p.E375K	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	680	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTGTCCCGAGAACAAATGGA	0.498																																																0			X											101	75	83					X																	69719792		2203	4300	6503	69636517	SO:0001583	missense	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2038G>A	X.37:g.69719792G>A	ENSP00000363480:p.Glu680Lys		69636517	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420524	0.83559	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.65	5.65	0.86999	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	M	0.91140	3.18	0.80722	D	1	D;D;D	0.65815	0.971;0.991;0.995	P;P;D	0.68353	0.673;0.826;0.957	T	0.80369	-0.1411	9	.	.	.	.	17.55	0.87873	0.0:0.0:1.0:0.0	.	229;375;680	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	K	712;680;375;229	ENSP00000194900:E712K;ENSP00000363480:E680K;ENSP00000363475:E375K;ENSP00000441393:E229K	.	E	+	1	0	DLG3	69636517	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.548000	0.82154	2.618000	0.88619	0.600000	0.82982	GAA		0.498	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		A	69719792	G	A	69719792	3	1	262	1	0	0	0	0	1	0	0	0	4556	943	33	2	2388	2	DLG3	23	69719792	Missense_Mutation	SNP	G	TCGA-24-1846-01A-01W-0639-09	21877409	69719792	85550768	103	14701											
GPRASP2	114928	genome.wustl.edu	37	X	101969952	101969952	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:101969952C>G	ENST00000535209.1	+	4	986	c.155C>G	c.(154-156)aCt>aGt	p.T52S	GPRASP2_ENST00000332262.5_Missense_Mutation_p.T52S|GPRASP2_ENST00000543253.1_Missense_Mutation_p.T52S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	52						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGCCCAAAACTGAGACCAAG	0.567																																																0			X											108	98	102					X																	101969952		2203	4300	6503	101856608	SO:0001583	missense	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.155C>G	X.37:g.101969952C>G	ENSP00000437394:p.Thr52Ser		101856608	D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628048	0.28978	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07444	3.19;3.19;3.19	4.16	4.16	0.48862	.	0.000000	0.45361	D	0.000378	T	0.04770	0.0129	L	0.27053	0.805	0.29001	N	0.887458	B	0.19445	0.036	B	0.15870	0.014	T	0.35699	-0.9778	10	0.07813	T	0.8	.	6.9516	0.24548	0.0:0.8779:0.0:0.1221	.	52	Q96D09	GASP2_HUMAN	S	52	ENSP00000437872:T52S;ENSP00000437394:T52S;ENSP00000339057:T52S	ENSP00000339057:T52S	T	+	2	0	GPRASP2	101856608	0.007000	0.16637	0.996000	0.52242	0.821000	0.46438	0.285000	0.18883	2.326000	0.78906	0.529000	0.55759	ACT		0.567	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		G	101969952	C	G	101969952	3	3	262	1	0	0	0	0	1	0	0	0	6723	565	20	3	157	3	GPRASP2	23	101969952	Missense_Mutation	SNP	C	TCGA-24-1846-01A-01W-0639-09	32250160	101969952	53300608	104	14702											
IL9R	3581	genome.wustl.edu	37	X	155240027	155240027	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:155240027A>G	ENST00000244174.5	+	9	1698	c.1519A>G	c.(1519-1521)Atg>Gtg	p.M507V	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.M486V|IL9R_ENST00000540897.1_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	507					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTCCAGGGCATGTTGCTCCC	0.572																																																0			X											1	1	1					X																	155240027		486	1569	2055	154893221	SO:0001583	missense	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1519A>G	X.37:g.155240027A>G	ENSP00000244174:p.Met507Val		154893221	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	a	1.651	-0.514011	0.04200	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.09817	2.94;2.94	1.44	-2.88	0.05682	.	0.926421	0.08771	N	0.896204	T	0.07954	0.0199	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36114	-0.9761	9	0.87932	D	0	.	6.2175	0.20663	0.3833:0.0:0.6167:0.0	.	507	Q01113	IL9R_HUMAN	V	507;486	ENSP00000244174:M507V;ENSP00000388918:M486V	ENSP00000244174:M507V	M	+	1	0	IL9R	154893221	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.778000	0.01778	-1.195000	0.02680	0.238000	0.17879	ATG		0.572	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		G	155240027	A	G	155240027	3	3	262	1	0	0	0	0	1	0	0	0	7708	217	8	4	1553	4	IL9R	23	155240027	Missense_Mutation	SNP	A	TCGA-24-1846-01A-01W-0639-09	53270075	155240027	30533	105	14703											
VAV3	10451	genome.wustl.edu	37	1	108417536	108417536	+	Missense_Mutation	SNP	C	C	A	rs372445365		TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr1:108417536C>A	ENST00000370056.4	-	2	582	c.308G>T	c.(307-309)cGt>cTt	p.R103L	VAV3_ENST00000371846.4_Missense_Mutation_p.R38L|VAV3_ENST00000527011.1_Missense_Mutation_p.R103L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	103	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCCAAAGTCACGAACATCAAA	0.358																																																0			1											80	76	77					1																	108417536		2203	4300	6503	108219059	SO:0001583	missense	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.308G>T	1.37:g.108417536C>A	ENSP00000359073:p.Arg103Leu		108219059	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.400919|5.400919	0.96030|0.96030	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.40756|.	1.02;1.02;1.02|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Calponin homology domain (5);|.	0.124032|.	0.53938|.	D|.	0.000055|.	T|T	0.74038|0.74038	0.3664|0.3664	M|M	0.78285|0.78285	2.405|2.405	0.58432|0.58432	D|D	0.999997|0.999997	B;B;P|.	0.40834|.	0.075;0.272;0.73|.	B;B;P|.	0.54270|.	0.097;0.166;0.747|.	T|T	0.72097|0.72097	-0.4393|-0.4393	10|5	0.51188|.	T|.	0.08|.	.|.	19.2273|19.2273	0.93822|0.93822	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	103;103;103|.	B7ZLR1;E9PQ97;Q9UKW4|.	.;.;VAV3_HUMAN|.	L|L	103;103;38|98	ENSP00000359073:R103L;ENSP00000432540:R103L;ENSP00000360912:R38L|.	ENSP00000359073:R103L|.	R|V	-|-	2|1	0|0	VAV3|VAV3	108219059|108219059	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.302000|7.302000	0.78861|0.78861	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.358	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		A	108417536	C	A	108417536	3	1	263	1	0	0	0	0	1	0	0	0	17133	536	19	3	2364	3	VAV3	1	108417536	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09		108417536	140833085	1	14704											
SARS	6301	genome.wustl.edu	37	1	109756748	109756748	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr1:109756748G>A	ENST00000234677.2	+	1	209	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	SARS_ENST00000369923.4_Missense_Mutation_p.R45Q	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	45					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.R45Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GAGTGGCGACGATGTAAGTAC	0.592																																																1	Substitution - Missense(1)	lung(1)	1											113	90	98					1																	109756748		2203	4300	6503	109558271	SO:0001583	missense	6301			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.134G>A	1.37:g.109756748G>A	ENSP00000234677:p.Arg45Gln		109558271	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	CCDS795.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484204	0.44147	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.41065	1.01;1.01	5.38	5.38	0.77491	tRNA-binding arm (1);Seryl-tRNA synthetase, class IIa, N-terminal (2);	0.064498	0.64402	D	0.000010	T	0.08179	0.0204	N	0.02985	-0.445	0.38518	D	0.948649	B;B;B;B	0.18610	0.017;0.006;0.029;0.017	B;B;B;B	0.12156	0.003;0.002;0.007;0.003	T	0.21484	-1.0244	10	0.13853	T	0.58	-5.5081	11.4738	0.50286	0.0825:0.0:0.9175:0.0	.	45;45;45;45	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	Q	45	ENSP00000234677:R45Q;ENSP00000358939:R45Q	ENSP00000234677:R45Q	R	+	2	0	SARS	109558271	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.684000	0.54671	2.805000	0.96524	0.460000	0.39030	CGA		0.592	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		A	109756748	G	A	109756748	3	1	263	1	0	0	0	0	1	0	0	0	13847	1058	37	1	136	1	SARS	1	109756748	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	1339212	109756748	139493873	2	14705											
CELSR2	1952	genome.wustl.edu	37	1	109793348	109793349	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	TG	TG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr1:109793348_109793349delTG	ENST00000271332.3	+	1	708_709	c.647_648delTG	c.(646-648)ctgfs	p.L216fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	216	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCAGGTCGACTGGAGTACACCA	0.629																																					NSCLC(158;1285 2011 34800 34852 42084)											0			1																																								109594872	SO:0001589	frameshift_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.647_648delTG	1.37:g.109793348_109793349delTG	ENSP00000271332:p.Leu216fs		109594871	Q5T2Y7|Q92566	Frame_Shift_Del	DEL	ENST00000271332.3	37	CCDS796.1																																																																																				0.629	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		-	109793349	TG	-	109793348	7	5	263	1	0	1	0	1	0	0	0	0	3222	1580	55	0	649	0	CELSR2	1	109793348	Frame_Shift_Del	DEL	TG	TCGA-24-1847-01A-01W-0633-09	36600	109793348	139457273	3	14706											
LCE1D	353134	genome.wustl.edu	37	1	152770314	152770314	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr1:152770314A>G	ENST00000326233.6	+	2	87	c.44A>G	c.(43-45)aAg>aGg	p.K15R		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	15	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCctcccaagtgcactccc	0.612																																																0			1											50	49	49					1																	152770314		2106	3947	6053	151036938	SO:0001583	missense	353134				CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"Late cornified envelopes"	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.44A>G	1.37:g.152770314A>G	ENSP00000316737:p.Lys15Arg		151036938		Missense_Mutation	SNP	ENST00000326233.6	37	CCDS1025.1	.	.	.	.	.	.	.	.	.	.	A	10.93	1.490021	0.26686	.	.	ENSG00000172155	ENST00000326233	T	0.06068	3.35	3.78	2.59	0.31030	.	.	.	.	.	T	0.11623	0.0283	M	0.88310	2.945	0.21256	N	0.999746	D	0.64830	0.994	P	0.60609	0.877	T	0.09058	-1.0692	9	0.87932	D	0	.	6.4046	0.21658	0.7813:0.0:0.0:0.2187	.	15	Q5T752	LCE1D_HUMAN	R	15	ENSP00000316737:K15R	ENSP00000316737:K15R	K	+	2	0	LCE1D	151036938	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.769000	0.47654	0.411000	0.25702	0.435000	0.28638	AAG		0.612	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		G	152770314	A	G	152770314	3	3	263	1	0	0	0	0	1	0	0	0	8662	72	3	4	46	4	LCE1D	1	152770314	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	42976966	152770314	96480307	4	14707											
BCAN	63827	genome.wustl.edu	37	1	156621290	156621290	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr1:156621290C>G	ENST00000329117.5	+	7	1442	c.1106C>G	c.(1105-1107)gCc>gGc	p.A369G	BCAN_ENST00000361588.5_Missense_Mutation_p.A369G|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	369					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					tccaacccagcctccaaccca	0.587																																																0			1											43	42	42					1																	156621290		2203	4300	6503	154887914	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1106C>G	1.37:g.156621290C>G	ENSP00000331210:p.Ala369Gly		154887914	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	1.889|1.889	-0.455950|-0.455950	0.04540|0.04540	.|.	.|.	ENSG00000132692|ENSG00000132692	ENST00000329117;ENST00000361588|ENST00000255029	T;T|.	0.14640|.	2.49;3.21|.	4.72|4.72	-0.99|-0.99	0.10238|0.10238	.|.	0.552370|.	0.15466|.	N|.	0.260887|.	T|T	0.05640|0.05640	0.0148|0.0148	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.09377|.	0.0;0.004|.	T|T	0.35871|0.35871	-0.9771|-0.9771	10|6	0.35671|0.13470	T|T	0.21|0.59	-0.5246|-0.5246	0.4184|0.4184	0.00452|0.00452	0.2887:0.3151:0.141:0.2552|0.2887:0.3151:0.141:0.2552	.|.	369;369|.	Q96GW7;Q96GW7-2|.	PGCB_HUMAN;.|.	G|A	369|310	ENSP00000331210:A369G;ENSP00000354925:A369G|.	ENSP00000331210:A369G|ENSP00000255029:P310A	A|P	+|+	2|1	0|0	BCAN|BCAN	154887914|154887914	0.000000|0.000000	0.05858|0.05858	0.049000|0.049000	0.19019|0.19019	0.266000|0.266000	0.26442|0.26442	-0.319000|-0.319000	0.08039|0.08039	-0.041000|-0.041000	0.13558|0.13558	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.587	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		G	156621290	C	G	156621290	3	3	263	1	0	0	0	0	1	0	0	0	1345	739	26	3	1128	3	BCAN	1	156621290	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	3850976	156621290	92629331	5	14708											
TARBP1	6894	genome.wustl.edu	37	1	234556500	234556500	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr1:234556500A>G	ENST00000040877.1	-	21	3502	c.3503T>C	c.(3502-3504)gTg>gCg	p.V1168A		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1168					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)			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)			TCGGTTTTTCACTCTGTGCTG	0.378																																																0			1											122	132	129					1																	234556500		2203	4300	6503	232623123	SO:0001583	missense	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.3503T>C	1.37:g.234556500A>G	ENSP00000040877:p.Val1168Ala		232623123	Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685144	0.68157	.	.	ENSG00000059588	ENST00000040877	T	0.06768	3.26	5.74	5.74	0.90152	Armadillo-type fold (1);	0.209260	0.41097	D	0.000960	T	0.10594	0.0259	L	0.53249	1.67	0.47819	D	0.999527	B	0.34015	0.435	B	0.30401	0.115	T	0.10222	-1.0639	10	0.30078	T	0.28	-18.6971	15.6946	0.77484	1.0:0.0:0.0:0.0	.	1168	Q13395	TARB1_HUMAN	A	1168	ENSP00000040877:V1168A	ENSP00000040877:V1168A	V	-	2	0	TARBP1	232623123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.001000	0.88508	2.186000	0.69663	0.528000	0.53228	GTG		0.378	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		G	234556500	A	G	234556500	3	3	263	1	0	0	0	0	1	0	0	0	15555	159	6	4	1402	4	TARBP1	1	234556500	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	77935210	234556500	14694121	6	14709											
KMO	23596	genome.wustl.edu	37	1	241755350	241755350	+	IGR	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr1:241755350C>A	ENST00000366554.2	-	0	2620				KMO_ENST00000366559.4_Silent_p.R452R|KMO_ENST00000366558.3_Silent_p.R439R|KMO_ENST00000366557.4_Silent_p.R418R|OPN3_ENST00000469376.1_5'Flank	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTTTCCTCCGCTTGAGAAGAC	0.448																																																0			1											170	145	153					1																	241755350		2203	4300	6503	239821973	SO:0001628	intergenic_variant	8564			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241755350C>A			239821973	Q8IX08|Q9Y344	Silent	SNP	ENST00000366554.2	37	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	C	2.970	-0.212579	0.06140	.	.	ENSG00000117009	ENST00000366555	.	.	.	5.4	1.03	0.20045	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	.	3.3413	0.07119	0.1924:0.5025:0.0:0.3051	.	.	.	.	I	138	.	.	L	+	1	0	KMO	239821973	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-0.434000	0.06939	0.385000	0.24970	0.650000	0.86243	CTT		0.448	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		A	241755350	C	A	241755350	1	1	263	0	1	0	0	0	0	0	0	0	8424	784	28	3		3	KMO	1	241755350	IGR	SNP	C	TCGA-24-1847-01A-01W-0633-09	7198850	241755350	7495271	7	14710											
PSME4	23198	genome.wustl.edu	37	2	54164553	54164553	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr2:54164553G>C	ENST00000404125.1	-	5	725	c.670C>G	c.(670-672)Cca>Gca	p.P224A	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	224					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGAAGTTCTGGAGGAAGGGAG	0.333																																																0			2											99	106	103					2																	54164553		2203	4300	6503	54018057	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.670C>G	2.37:g.54164553G>C	ENSP00000384211:p.Pro224Ala		54018057	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047107	0.75846	.	.	ENSG00000068878	ENST00000404125	T	0.26373	1.74	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.25676	-1.0125	10	0.10902	T	0.67	.	19.6495	0.95795	0.0:0.0:1.0:0.0	.	224	Q14997	PSME4_HUMAN	A	224	ENSP00000384211:P224A	ENSP00000374643:P224A	P	-	1	0	PSME4	54018057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.717000	0.92951	0.585000	0.79938	CCA		0.333	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		C	54164553	G	C	54164553	3	2	263	1	0	0	0	0	1	0	0	0	12712	1174	41	3	5029	3	PSME4	2	54164553	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09		54164553	189034820	8	14711											
SPRED2	200734	genome.wustl.edu	37	2	65559137	65559137	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr2:65559137T>C	ENST00000356388.4	-	4	611	c.422A>G	c.(421-423)gAt>gGt	p.D141G	SPRED2_ENST00000443619.2_Missense_Mutation_p.D138G|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	141					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						AACGTCATCATCGCCAAGCTC	0.363																																																0			2											103	95	98					2																	65559137		2203	4300	6503	65412641	SO:0001583	missense	200734			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.422A>G	2.37:g.65559137T>C	ENSP00000348753:p.Asp141Gly		65412641	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482570	0.84747	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-0.24	6.17	6.17	0.99709	.	0.042841	0.85682	D	0.000000	T	0.81721	0.4882	M	0.78637	2.42	0.80722	D	1	B;P	0.43857	0.399;0.819	B;B	0.43889	0.104;0.435	D	0.84223	0.0462	10	0.72032	D	0.01	-25.4468	16.8222	0.85835	0.0:0.0:0.0:1.0	.	138;141	E9PEP0;Q7Z698	.;SPRE2_HUMAN	G	141;138;156;73	ENSP00000348753:D141G;ENSP00000393697:D138G;ENSP00000390595:D156G;ENSP00000407627:D73G	ENSP00000348753:D141G	D	-	2	0	SPRED2	65412641	1.000000	0.71417	0.996000	0.52242	0.886000	0.51366	7.218000	0.77991	2.371000	0.80710	0.533000	0.62120	GAT		0.363	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			C	65559137	T	C	65559137	3	2	263	1	0	0	0	0	1	0	0	0	15095	1435	50	4	846	4	SPRED2	2	65559137	Missense_Mutation	SNP	T	TCGA-24-1847-01A-01W-0633-09	11394584	65559137	177640236	9	14712											
PRPF40A	55660	genome.wustl.edu	37	2	153529517	153529517	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr2:153529517T>C	ENST00000410080.1	-	12	1721	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	421	FF 1.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TTAATAATCATTTTCATAGCC	0.313																																																0			2											85	83	83					2																	153529517		1826	4081	5907	153237763	SO:0001583	missense	55660			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1180A>G	2.37:g.153529517T>C	ENSP00000386458:p.Met394Val		153237763	O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718742	0.48622	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961;ENST00000545856	T;T	0.27256	1.68;1.68	5.44	5.44	0.79542	FF domain (4);	0.084158	0.85682	D	0.000000	T	0.15435	0.0372	N	0.03000	-0.44	0.48762	D	0.999705	B;P	0.42518	0.072;0.782	B;P	0.46144	0.071;0.505	T	0.21930	-1.0231	10	0.12103	T	0.63	-11.2322	15.8019	0.78458	0.0:0.0:0.0:1.0	.	421;394	O75400;E9PFS0	PR40A_HUMAN;.	V	394;403;290;341;421	ENSP00000386458:M394V;ENSP00000444656:M421V	ENSP00000348770:M403V	M	-	1	0	PRPF40A	153237763	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.188000	0.50958	2.199000	0.70637	0.533000	0.62120	ATG		0.313	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		C	153529517	T	C	153529517	3	2	263	1	0	0	0	0	1	0	0	0	12574	1493	52	4	1672	4	PRPF40A	2	153529517	Missense_Mutation	SNP	T	TCGA-24-1847-01A-01W-0633-09	87970380	153529517	89669856	10	14713											
LMOD3	56203	genome.wustl.edu	37	3	69171391	69171391	+	Silent	SNP	G	G	C	rs184423475	byFrequency	TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr3:69171391G>C	ENST00000420581.2	-	1	326	c.147C>G	c.(145-147)ccC>ccG	p.P49P	LMOD3_ENST00000489031.1_Silent_p.P49P|LMOD3_ENST00000475434.1_Silent_p.P49P	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	49						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCATTCCCACGGGAAGGCTGG	0.443																																																0			3											78	74	75					3																	69171391		1867	4107	5974	69254081	SO:0001819	synonymous_variant	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.147C>G	3.37:g.69171391G>C			69254081	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	37	CCDS46862.1																																																																																				0.443	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		C	69171391	G	C	69171391	2	2	263	1	0	0	0	0	0	0	0	1	8858	1103	39	3		3	LMOD3	3	69171391	Silent	SNP	G	TCGA-24-1847-01A-01W-0633-09		69171391	128851039	11	14714											
GOLGB1	2804	genome.wustl.edu	37	3	121415453	121415453	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr3:121415453C>A	ENST00000340645.5	-	13	4027	c.3902G>T	c.(3901-3903)gGa>gTa	p.G1301V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.G1306V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1301					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AACAGAAGTTCCGCCCTGCAG	0.453																																																0			3											81	81	81					3																	121415453		2203	4300	6503	122898143	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3902G>T	3.37:g.121415453C>A	ENSP00000341848:p.Gly1301Val		122898143	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.377939	0.01204	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.22743	2.53;2.53;1.94	5.88	-2.86	0.05717	.	1.691530	0.02623	N	0.103446	T	0.14184	0.0343	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.20988	0.05;0.05;0.05;0.05;0.05	B;B;B;B;B	0.21917	0.037;0.023;0.014;0.014;0.023	T	0.22695	-1.0209	10	0.34782	T	0.22	.	5.9835	0.19421	0.0:0.3502:0.265:0.3848	.	1226;1265;1306;1306;1301	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	1301;1306;1265	ENSP00000341848:G1301V;ENSP00000377275:G1306V;ENSP00000418231:G1265V	ENSP00000341848:G1301V	G	-	2	0	GOLGB1	122898143	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.527000	0.06200	-0.778000	0.04566	-0.302000	0.09304	GGA		0.453	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121415453	C	A	121415453	3	1	263	1	0	0	0	0	1	0	0	0	6565	855	30	3	5917	3	GOLGB1	3	121415453	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	52244062	121415453	76606977	12	14715											
KCNMB3	27094	genome.wustl.edu	37	3	178968712	178968712	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr3:178968712G>C	ENST00000314235.5	-	2	590	c.79C>G	c.(79-81)Cct>Gct	p.P27A	KCNMB3_ENST00000392685.2_Missense_Mutation_p.P23A|KCNMB3_ENST00000349697.2_Missense_Mutation_p.P25A|KCNMB3_ENST00000485523.1_Missense_Mutation_p.P5A|KCNMB3_ENST00000497599.1_Missense_Mutation_p.P25A	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	27					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	CCTGAGGCAGGAAAGGCTGTC	0.522																																																0			3											116	108	111					3																	178968712		2203	4300	6503	180451406	SO:0001583	missense	27094			AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"Potassium channels"	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.79C>G	3.37:g.178968712G>C	ENSP00000319370:p.Pro27Ala		180451406	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000314235.5	37	CCDS3226.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977661	0.53720	.	.	ENSG00000171121	ENST00000497599;ENST00000392685;ENST00000349697;ENST00000314235;ENST00000485523	T;T;T;T;T	0.18174	2.23;2.9;2.94;2.99;2.94	6.07	-2.26	0.06867	.	1.472700	0.04038	N	0.302650	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.33171	0.001;0.007;0.012;0.4;0.278	B;B;B;B;B	0.30855	0.006;0.022;0.022;0.121;0.057	T	0.16424	-1.0403	10	0.11485	T	0.65	-11.5657	2.8077	0.05432	0.3266:0.1341:0.4086:0.1307	.	25;25;5;23;27	E9PER5;Q9NPA1-2;Q9NPA1-4;Q9NPA1-3;Q9NPA1	.;.;.;.;KCMB3_HUMAN	A	25;23;25;27;5	ENSP00000417091:P25A;ENSP00000376451:P23A;ENSP00000327866:P25A;ENSP00000319370:P27A;ENSP00000418536:P5A	ENSP00000319370:P27A	P	-	1	0	KCNMB3	180451406	0.006000	0.16342	0.000000	0.03702	0.636000	0.38137	-0.235000	0.09016	-0.622000	0.05626	0.650000	0.86243	CCT		0.522	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348484.1			C	178968712	G	C	178968712	3	2	263	1	0	0	0	0	1	0	0	0	8076	1174	41	3	845	3	KCNMB3	3	178968712	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	57553259	178968712	19053718	13	14716											
BOD1L	259282	genome.wustl.edu	37	4	13617086	13617086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr4:13617086G>A	ENST00000040738.5	-	3	544	c.409C>T	c.(409-411)Cag>Tag	p.Q137*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	137						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCCACAACCTGAGAAATAATT	0.378																																																0			4											120	118	119					4																	13617086		2203	4300	6503	13226184	SO:0001587	stop_gained	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.409C>T	4.37:g.13617086G>A	ENSP00000040738:p.Gln137*		13226184	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	37	6.543585	0.97650	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.51	5.51	0.81932	.	0.000000	0.40640	N	0.001058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.5179	19.7872	0.96444	0.0:0.0:1.0:0.0	.	.	.	.	X	137	.	ENSP00000040738:Q137X	Q	-	1	0	BOD1L	13226184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.741000	0.93983	0.655000	0.94253	CAG		0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		A	13617086	G	A	13617086	4	1	263	1	0	0	0	0	0	1	0	0	1483	1299	45	2	8842	2	BOD1L	4	13617086	Nonsense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09		13617086	177537190	14	14717											
C4orf35	85438	genome.wustl.edu	37	4	71201436	71201436	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr4:71201436C>A	ENST00000273936.5	+	1	754	c.680C>A	c.(679-681)aCt>aAt	p.T227N		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	227					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCTTCACTACTATTCCAGAC	0.443																																																0			4											87	92	90					4																	71201436		2203	4299	6502	71236025	SO:0001583	missense	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.680C>A	4.37:g.71201436C>A	ENSP00000273936:p.Thr227Asn		71236025	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817895	0.32145	.	.	ENSG00000145309	ENST00000273936	T	0.29142	1.58	4.57	2.83	0.33086	.	0.177484	0.27455	N	0.019292	T	0.33381	0.0861	L	0.29908	0.895	0.22435	N	0.999106	D	0.57571	0.98	P	0.60068	0.868	T	0.03662	-1.1015	10	0.62326	D	0.03	-46.7677	6.4544	0.21922	0.0:0.7853:0.0:0.2147	.	227	Q96KC9	CABS1_HUMAN	N	227	ENSP00000273936:T227N	ENSP00000273936:T227N	T	+	2	0	CABS1	71236025	0.017000	0.18338	0.302000	0.25058	0.037000	0.13140	0.920000	0.28705	1.284000	0.44531	0.655000	0.94253	ACT		0.443	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		A	71201436	C	A	71201436	3	1	263	1	0	0	0	0	1	0	0	0	2265	565	20	3	682	3	C4orf35	4	71201436	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	57584350	71201436	119952840	15	14718											
FAT4	79633	genome.wustl.edu	37	4	126408599	126408599	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr4:126408599A>T	ENST00000394329.3	+	16	12929	c.12916A>T	c.(12916-12918)Act>Tct	p.T4306S	FAT4_ENST00000335110.5_Missense_Mutation_p.T2547S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4306	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACTGGCACACTTTTCTAAT	0.403																																																0			4											80	82	82					4																	126408599		2203	4300	6503	126628049	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12916A>T	4.37:g.126408599A>T	ENSP00000377862:p.Thr4306Ser		126628049	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	9.761	1.170050	0.21621	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.79141	-1.15;-1.24	5.06	2.44	0.29823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.248964	0.20502	U	0.091070	T	0.55673	0.1935	N	0.17764	0.52	0.33612	D	0.603661	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.12837	0.005;0.008;0.005	T	0.49799	-0.8901	10	0.09084	T	0.74	.	5.3503	0.16032	0.6832:0.0:0.0971:0.2197	.	2547;4306;4306	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	4306;2547	ENSP00000377862:T4306S;ENSP00000335169:T2547S	ENSP00000335169:T2547S	T	+	1	0	FAT4	126628049	1.000000	0.71417	0.957000	0.39632	0.722000	0.41435	3.887000	0.56197	0.766000	0.33244	0.528000	0.53228	ACT		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126408599	A	T	126408599	3	4	263	1	0	0	0	0	1	0	0	0	5692	159	6	5	12978	5	FAT4	4	126408599	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	55207163	126408599	64745677	16	14719											
NEK1	4750	genome.wustl.edu	37	4	170327813	170327813	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr4:170327813T>C	ENST00000439128.2	-	30	3864	c.3224A>G	c.(3223-3225)gAc>gGc	p.D1075G	NEK1_ENST00000507142.1_Missense_Mutation_p.D1103G|NEK1_ENST00000511633.1_Missense_Mutation_p.D1059G|NEK1_ENST00000512193.1_Missense_Mutation_p.D1006G|NEK1_ENST00000510533.1_Missense_Mutation_p.D1031G	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1075					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTCAAGATTGTCTTGACGAAC	0.338																																																0			4											77	71	73					4																	170327813		1825	4081	5906	170564388	SO:0001583	missense	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3224A>G	4.37:g.170327813T>C	ENSP00000408020:p.Asp1075Gly		170564388	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.229318	0.58777	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.03	5.03	0.67393	.	0.086607	0.49916	D	0.000132	T	0.61924	0.2386	M	0.63428	1.95	0.33641	D	0.60722	D;D;D;D;P	0.62365	0.968;0.984;0.968;0.991;0.947	P;P;P;P;B	0.58970	0.703;0.849;0.747;0.763;0.37	T	0.75045	-0.3456	10	0.66056	D	0.02	.	15.049	0.71850	0.0:0.0:0.0:1.0	.	1006;1059;1103;1031;1075	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	G	1075;1059;1031;1103;1006	ENSP00000408020:D1075G;ENSP00000423332:D1059G;ENSP00000427653:D1031G;ENSP00000424757:D1103G;ENSP00000424938:D1006G	ENSP00000408020:D1075G	D	-	2	0	NEK1	170564388	1.000000	0.71417	0.998000	0.56505	0.517000	0.34286	4.896000	0.63222	1.998000	0.58463	0.482000	0.46254	GAC		0.338	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			C	170327813	T	C	170327813	3	2	263	1	0	0	0	0	1	0	0	0	10321	1667	58	4	572	4	NEK1	4	170327813	Missense_Mutation	SNP	T	TCGA-24-1847-01A-01W-0633-09	43919214	170327813	20826463	17	14720											
CTNND2	1501	genome.wustl.edu	37	5	11411708	11411708	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr5:11411708A>T	ENST00000304623.8	-	5	568	c.379T>A	c.(379-381)Tgt>Agt	p.C127S	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.C36S|CTNND2_ENST00000359640.2_Missense_Mutation_p.C127S|CTNND2_ENST00000511377.1_Missense_Mutation_p.C36S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	127					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACCTAATACAGGAGTCCACC	0.378																																																0			5											131	122	125					5																	11411708		2203	4300	6503	11464708	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.379T>A	5.37:g.11411708A>T	ENSP00000307134:p.Cys127Ser		11464708	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164115	0.78339	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	T;T;T;D	0.85411	-0.96;-1.03;-0.98;-1.98	5.86	5.86	0.93980	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.61703	1.905	0.80722	D	1	P;D	0.55800	0.932;0.973	P;D	0.66196	0.879;0.942	D	0.89249	0.3589	10	0.34782	T	0.22	-10.7514	16.2612	0.82547	1.0:0.0:0.0:0.0	.	36;127	B4DRK2;Q9UQB3	.;CTND2_HUMAN	S	127;127;36;36;113;36;113	ENSP00000307134:C127S;ENSP00000352661:C127S;ENSP00000426510:C36S;ENSP00000426887:C36S	ENSP00000307134:C127S	C	-	1	0	CTNND2	11464708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.893000	0.92498	2.244000	0.73946	0.477000	0.44152	TGT		0.378	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		T	11411708	A	T	11411708	3	4	263	1	0	0	0	0	1	0	0	0	4020	188	7	5	3370	5	CTNND2	5	11411708	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09		11411708	169503552	18	14721											
BRD8	10902	genome.wustl.edu	37	5	137497831	137497831	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr5:137497831C>A	ENST00000254900.5	-	16	2463	c.2092G>T	c.(2092-2094)Gtc>Ttc	p.V698F	BRD8_ENST00000455658.2_Missense_Mutation_p.V657F|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000230901.5_Missense_Mutation_p.V771F|BRD8_ENST00000402931.1_Missense_Mutation_p.V698F|BRD8_ENST00000411594.2_Missense_Mutation_p.V701F	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	698					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCACTACAGACAGAGCTGAAA	0.413																																																0			5											119	107	111					5																	137497831		2203	4300	6503	137525730	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2092G>T	5.37:g.137497831C>A	ENSP00000254900:p.Val698Phe		137525730	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936220	0.73442	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	T;T;T;T;T;T;T	0.34072	1.76;1.39;1.38;1.53;1.53;1.38;1.52	6.17	5.3	0.74995	Bromodomain (1);	0.234704	0.43579	D	0.000545	T	0.45054	0.1323	N	0.24115	0.695	0.58432	D	0.999999	D;D;D;D;D;D;D;P	0.76494	0.999;0.995;0.998;0.997;0.998;0.994;0.999;0.868	D;D;D;P;P;P;D;B	0.74023	0.977;0.945;0.94;0.852;0.905;0.854;0.982;0.243	T	0.31420	-0.9944	10	0.21014	T	0.42	-12.4032	16.7039	0.85366	0.0:0.8706:0.1294:0.0	.	657;682;477;771;701;592;771;698	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	F	698;727;696;771;698;701;592;657;166	ENSP00000254900:V698F;ENSP00000398067:V727F;ENSP00000398873:V696F;ENSP00000230901:V771F;ENSP00000384845:V698F;ENSP00000394330:V701F;ENSP00000408396:V657F	ENSP00000230901:V771F	V	-	1	0	BRD8	137525730	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	3.759000	0.55227	1.609000	0.50190	-0.175000	0.13238	GTC		0.413	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		A	137497831	C	A	137497831	3	1	263	1	0	0	0	0	1	0	0	0	1506	478	17	3	1727	3	BRD8	5	137497831	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	126086123	137497831	43417429	19	14722											
ABLIM3	22885	genome.wustl.edu	37	5	148619336	148619336	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr5:148619336C>A	ENST00000506113.1	+	12	1571	c.1089C>A	c.(1087-1089)aaC>aaA	p.N363K	ABLIM3_ENST00000508983.1_Missense_Mutation_p.N363K|ABLIM3_ENST00000309868.7_Missense_Mutation_p.N363K|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.N301K|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.N301K|ABLIM3_ENST00000504238.1_Missense_Mutation_p.N301K			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	363					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACGAGAACCTGGACCTCC	0.642																																																0			5											73	78	76					5																	148619336		2203	4300	6503	148599529	SO:0001583	missense	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1089C>A	5.37:g.148619336C>A	ENSP00000425394:p.Asn363Lys		148599529	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207341	0.39003	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.0	3.17	0.36434	.	0.264028	0.48286	D	0.000190	T	0.19087	0.0458	N	0.08118	0	0.41441	D	0.987929	B;B;B	0.20261	0.01;0.043;0.001	B;B;B	0.21151	0.033;0.03;0.008	T	0.05920	-1.0856	10	0.15952	T	0.53	.	7.1718	0.25722	0.0:0.7076:0.1395:0.1528	.	301;301;363	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	K	301;301;363;363;301;363	ENSP00000315841:N301K;ENSP00000348938:N301K;ENSP00000310309:N363K;ENSP00000425394:N363K;ENSP00000421183:N301K;ENSP00000420855:N363K	ENSP00000310309:N363K	N	+	3	2	ABLIM3	148599529	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.712000	0.25779	1.326000	0.45319	0.462000	0.41574	AAC		0.642	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		A	148619336	C	A	148619336	3	1	263	1	0	0	0	0	1	0	0	0	96	506	18	3	1135	3	ABLIM3	5	148619336	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	11121505	148619336	32295924	20	14723											
SPARC	6678	genome.wustl.edu	37	5	151055727	151055727	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr5:151055727A>T	ENST00000231061.4	-	2	336	c.23T>A	c.(22-24)cTc>cAc	p.L8H	CTB-113P19.1_ENST00000518905.1_RNA|CTB-113P19.1_ENST00000510576.2_RNA	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	8					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		CAGGCAAAGGAGAAAGAAGAT	0.517																																																0			5											48	49	48					5																	151055727		2203	4300	6503	151035920	SO:0001583	missense	6678				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"cysteine-rich protein", "osteonectin"	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.23T>A	5.37:g.151055727A>T	ENSP00000231061:p.Leu8His		151035920	D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.317226	0.81469	.	.	ENSG00000113140	ENST00000231061;ENST00000539687;ENST00000522348	T;T;T	0.62941	1.55;1.05;-0.01	5.49	5.49	0.81192	.	0.191834	0.46442	D	0.000290	T	0.62146	0.2404	L	0.59436	1.845	0.39089	D	0.961062	P	0.40398	0.716	B	0.41646	0.362	T	0.69213	-0.5204	10	0.66056	D	0.02	-17.4437	13.8238	0.63338	1.0:0.0:0.0:0.0	.	8	P09486	SPRC_HUMAN	H	8	ENSP00000231061:L8H;ENSP00000444998:L8H;ENSP00000429152:L8H	ENSP00000231061:L8H	L	-	2	0	SPARC	151035920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.085000	0.89518	2.081000	0.62600	0.477000	0.44152	CTC		0.517	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		T	151055727	A	T	151055727	3	4	263	1	0	0	0	0	1	0	0	0	14997	304	11	5	924	5	SPARC	5	151055727	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	2436391	151055727	29859533	21	14724											
ODZ2	57451	genome.wustl.edu	37	5	167625899	167625899	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr5:167625899A>T	ENST00000518659.1	+	16	2981	c.2942A>T	c.(2941-2943)cAc>cTc	p.H981L	TENM2_ENST00000520394.1_Missense_Mutation_p.H749L|TENM2_ENST00000519204.1_Missense_Mutation_p.H860L|TENM2_ENST00000545108.1_Missense_Mutation_p.H981L|TENM2_ENST00000403607.2_Missense_Mutation_p.H805L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	981					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTGACTCTACACTTTGAGCGA	0.542																																																0			5											95	98	97					5																	167625899		2077	4213	6290	167558477	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2942A>T	5.37:g.167625899A>T	ENSP00000429430:p.His981Leu		167558477	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	A	7.507	0.653817	0.14580	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.52	5.52	0.82312	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.270728	0.43579	D	0.000550	T	0.08133	0.0203	N	0.08118	0	0.54753	D	0.999988	B;B;B	0.32467	0.108;0.014;0.372	B;B;B	0.28385	0.089;0.017;0.08	T	0.35251	-0.9796	10	0.37606	T	0.19	.	15.6352	0.76946	1.0:0.0:0.0:0.0	.	981;981;749	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	981;981;860;749;805	ENSP00000429430:H981L;ENSP00000438635:H981L;ENSP00000428964:H860L;ENSP00000427874:H749L;ENSP00000384905:H805L	ENSP00000384905:H805L	H	+	2	0	ODZ2	167558477	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	4.557000	0.60782	2.096000	0.63516	0.460000	0.39030	CAC		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167625899	A	T	167625899	3	4	263	1	0	0	0	0	1	0	0	0	10835	159	6	5	2977	5	ODZ2	5	167625899	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	16570172	167625899	13289361	22	14725											
N4BP3	23138	genome.wustl.edu	37	5	177547467	177547467	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr5:177547467C>A	ENST00000274605.5	+	3	978	c.619C>A	c.(619-621)Ccc>Acc	p.P207T		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	207						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TGGCCCTAGCCCCTTCAGCTC	0.672																																																0			5											53	58	56					5																	177547467		2201	4299	6500	177480073	SO:0001583	missense	23138			AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.619C>A	5.37:g.177547467C>A	ENSP00000274605:p.Pro207Thr		177480073	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859379	0.51376	.	.	ENSG00000145911	ENST00000274605	T	0.00583	6.41	5.0	4.11	0.48088	.	0.541990	0.20860	N	0.084373	T	0.00695	0.0023	L	0.41824	1.3	0.33216	D	0.554089	B	0.06786	0.001	B	0.04013	0.001	T	0.35724	-0.9777	10	0.54805	T	0.06	-26.0836	12.3937	0.55373	0.1693:0.8307:0.0:0.0	.	207	O15049	N4BP3_HUMAN	T	207	ENSP00000274605:P207T	ENSP00000274605:P207T	P	+	1	0	N4BP3	177480073	1.000000	0.71417	0.998000	0.56505	0.723000	0.41478	3.003000	0.49505	1.291000	0.44653	0.563000	0.77884	CCC		0.672	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		A	177547467	C	A	177547467	3	1	263	1	0	0	0	0	1	0	0	0	10113	623	22	3	625	3	N4BP3	5	177547467	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	9921568	177547467	3367793	23	14726											
RNF130	55819	genome.wustl.edu	37	5	179405240	179405240	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr5:179405240A>G	ENST00000261947.4	-	5	1209	c.811T>C	c.(811-813)Tat>Cat	p.Y271H	RNF130_ENST00000522208.2_Missense_Mutation_p.Y271H|RNF130_ENST00000521389.1_Missense_Mutation_p.Y271H	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGCTTATAGCTCTCTATG	0.373																																					GBM(24;432 554 38471 39699 51728)											0			5											140	124	130					5																	179405240		2203	4300	6503	179337846	SO:0001583	missense	55819			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.811T>C	5.37:g.179405240A>G	ENSP00000261947:p.Tyr271His		179337846		Missense_Mutation	SNP	ENST00000261947.4	37		.	.	.	.	.	.	.	.	.	.	A	25.2	4.617618	0.87359	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.45668	0.89;0.89;0.89	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.70491	0.3230	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77024	-0.2741	10	0.87932	D	0	.	15.8125	0.78576	1.0:0.0:0.0:0.0	.	288;271	Q59EL1;Q86XS8	.;GOLI_HUMAN	H	271	ENSP00000429509:Y271H;ENSP00000430237:Y271H;ENSP00000261947:Y271H	ENSP00000261947:Y271H	Y	-	1	0	RNF130	179337846	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.215000	0.89762	2.275000	0.75901	0.459000	0.35465	TAT		0.373	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		G	179405240	A	G	179405240	3	3	263	1	0	0	0	0	1	0	0	0	13441	420	15	4	468	4	RNF130	5	179405240	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	1857773	179405240	1510020	24	14727											
C6orf138	442213	genome.wustl.edu	37	6	47976659	47976659	+	Silent	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr6:47976659C>T	ENST00000339488.4	-	2	651	c.618G>A	c.(616-618)caG>caA	p.Q206Q	PTCHD4_ENST00000543600.1_Silent_p.Q189Q	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	206						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GATGCTCCTCCTGGAGCTTCC	0.498																																																0			6											63	61	61					6																	47976659		1900	4131	6031	48084618	SO:0001819	synonymous_variant	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.618G>A	6.37:g.47976659C>T			48084618	B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	6.616	0.482132	0.12581	.	.	ENSG00000244694	ENST00000398738	.	.	.	6.16	5.29	0.74685	.	.	.	.	.	T	0.65502	0.2697	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61917	-0.6964	4	.	.	.	.	15.9802	0.80102	0.0:0.9349:0.0:0.0651	.	.	.	.	R	206	.	.	G	-	1	0	C6orf138	48084618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.905000	0.48727	2.937000	0.99478	0.650000	0.86243	GGA		0.498	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		T	47976659	C	T	47976659	2	4	263	1	0	0	0	0	0	0	0	1	2332	680	24	2		2	C6orf138	6	47976659	Silent	SNP	C	TCGA-24-1847-01A-01W-0633-09		47976659	123138408	25	14728											
DNAH11	8701	genome.wustl.edu	37	7	21778420	21778420	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr7:21778420G>A	ENST00000409508.3	+	47	7778	c.7747G>A	c.(7747-7749)Gtg>Atg	p.V2583M	DNAH11_ENST00000328843.6_Missense_Mutation_p.V2590M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2590	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CATGCCTGAAGTGGACTTATA	0.403									Kartagener syndrome																																							0			7											51	52	52					7																	21778420		2163	4275	6438	21744945	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7747G>A	7.37:g.21778420G>A	ENSP00000475939:p.Val2583Met		21744945	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	17.32	3.358974	0.61403	.	.	ENSG00000105877	ENST00000328843	T	0.50001	0.76	5.41	5.41	0.78517	ATPase, AAA+ type, core (1);	0.059613	0.64402	D	0.000003	T	0.61098	0.2320	.	.	.	0.80722	D	1	D	0.55172	0.97	P	0.52646	0.705	T	0.63386	-0.6649	9	0.56958	D	0.05	.	19.1761	0.93603	0.0:0.0:1.0:0.0	.	2590	Q96DT5	DYH11_HUMAN	M	2590	ENSP00000330671:V2590M	ENSP00000330671:V2590M	V	+	1	0	DNAH11	21744945	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	6.391000	0.73208	2.689000	0.91719	0.655000	0.94253	GTG		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21778420	G	A	21778420	3	1	263	1	0	0	0	0	1	0	0	0	4599	1029	36	2	7955	2	DNAH11	7	21778420	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09		21778420	137360243	26	14729											
MUC17	140453	genome.wustl.edu	37	7	100677930	100677930	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr7:100677930A>T	ENST00000306151.4	+	3	3297	c.3233A>T	c.(3232-3234)cAa>cTa	p.Q1078L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1078	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTATTCTCAAGCCAGTTCA	0.502																																																0			7											443	369	394					7																	100677930		2203	4300	6503	100464650	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3233A>T	7.37:g.100677930A>T	ENSP00000302716:p.Gln1078Leu		100464650	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	4.186	0.033177	0.08101	.	.	ENSG00000169876	ENST00000306151	T	0.02345	4.33	0.74	0.74	0.18330	.	.	.	.	.	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B	0.18166	0.026	B	0.09377	0.004	T	0.47947	-0.9077	9	0.26408	T	0.33	.	5.8089	0.18456	1.0:0.0:0.0:0.0	.	1078	Q685J3	MUC17_HUMAN	L	1078	ENSP00000302716:Q1078L	ENSP00000302716:Q1078L	Q	+	2	0	MUC17	100464650	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.196000	0.17176	0.602000	0.29896	0.113000	0.15668	CAA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100677930	A	T	100677930	3	4	263	1	0	0	0	0	1	0	0	0	9974	130	5	5	3243	5	MUC17	7	100677930	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	78899510	100677930	58460733	27	14730											
PIP	5304	genome.wustl.edu	37	7	142832360	142832360	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr7:142832360G>A	ENST00000291009.3	+	2	209	c.169G>A	c.(169-171)Gca>Aca	p.A57T		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	57					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TGCAGTGCTTGCAGTTCAAAC	0.383																																																0			7											62	56	58					7																	142832360		2203	4299	6502	142542482	SO:0001583	missense	5304				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.169G>A	7.37:g.142832360G>A	ENSP00000291009:p.Ala57Thr		142542482	A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	G	3.340	-0.134769	0.06711	.	.	ENSG00000159763	ENST00000291009	T	0.11277	2.79	4.55	-6.27	0.02026	.	1.707640	0.02789	N	0.121872	T	0.02727	0.0082	N	0.01576	-0.805	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.34428	-0.9829	10	0.09590	T	0.72	.	3.0779	0.06253	0.3179:0.1352:0.4164:0.1305	.	57	P12273	PIP_HUMAN	T	57	ENSP00000291009:A57T	ENSP00000291009:A57T	A	+	1	0	PIP	142542482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.751000	0.01821	-1.325000	0.02269	-2.420000	0.00218	GCA		0.383	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		A	142832360	G	A	142832360	3	1	263	1	0	0	0	0	1	0	0	0	11935	1319	46	2	175	2	PIP	7	142832360	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	42154430	142832360	16306303	28	14731											
INTS9	55756	genome.wustl.edu	37	8	28717044	28717044	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr8:28717044C>A	ENST00000521022.1	-	2	127	c.46G>T	c.(46-48)Gtg>Ttg	p.V16L	INTS9_ENST00000521777.1_5'UTR|INTS9_ENST00000397363.4_Intron|INTS9_ENST00000416984.2_Missense_Mutation_p.V16L	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	16					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AATTTGAGCACATTGCATGGT	0.393																																																0			8											199	161	174					8																	28717044		2203	4300	6503	28772963	SO:0001583	missense	55756			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.46G>T	8.37:g.28717044C>A	ENSP00000429065:p.Val16Leu		28772963	B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.37|12.37	1.916937|1.916937	0.33815|0.33815	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000524081|ENST00000521022;ENST00000416984;ENST00000541706;ENST00000523436	.|T;T;T	.|0.39406	.|1.1;1.11;1.08	5.24|5.24	3.44|3.44	0.39384|0.39384	.|.	.|0.139231	.|0.49916	.|D	.|0.000137	T|T	0.25121|0.25121	0.0610|0.0610	N|N	0.21240|0.21240	0.645|0.645	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.16802	.|0.019;0.001;0.0	.|B;B;B	.|0.20384	.|0.029;0.006;0.004	T|T	0.07214|0.07214	-1.0784|-1.0784	5|10	.|0.06099	.|T	.|0.92	-6.9031|-6.9031	11.6925|11.6925	0.51525|0.51525	0.0:0.8562:0.0:0.1438|0.0:0.8562:0.0:0.1438	.|.	.|16;16;16	.|B7Z6M5;G3XAN1;Q9NV88	.|.;.;INT9_HUMAN	F|L	7|16;16;15;16	.|ENSP00000429065:V16L;ENSP00000398208:V16L;ENSP00000427789:V16L	.|ENSP00000398208:V16L	C|V	-|-	2|1	0|0	INTS9|INTS9	28772963|28772963	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.999000|0.999000	0.98932|0.98932	4.986000|4.986000	0.63851|0.63851	0.600000|0.600000	0.29862|0.29862	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.393	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		A	28717044	C	A	28717044	3	1	263	1	0	0	0	0	1	0	0	0	7785	478	17	3	1994	3	INTS9	8	28717044	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09		28717044	117646978	29	14732											
ZFPM2	23414	genome.wustl.edu	37	8	106811145	106811145	+	Silent	SNP	A	A	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr8:106811145A>C	ENST00000407775.2	+	7	1183	c.933A>C	c.(931-933)cgA>cgC	p.R311R	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.R42R|ZFPM2_ENST00000517361.1_Silent_p.R179R|ZFPM2_ENST00000520492.1_Silent_p.R179R|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	311					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAAATGCTCGAGCTCTAGAAA	0.438																																																0			8											104	104	104					8																	106811145		1932	4155	6087	106880321	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.933A>C	8.37:g.106811145A>C			106880321	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.438	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			C	106811145	A	C	106811145	2	2	263	1	0	0	0	0	0	0	0	1	17658	291	11	5		5	ZFPM2	8	106811145	Silent	SNP	A	TCGA-24-1847-01A-01W-0633-09	78094101	106811145	39552877	30	14733											
KANK1	23189	genome.wustl.edu	37	9	730134	730134	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr9:730134G>C	ENST00000382303.1	+	8	3434	c.2782G>C	c.(2782-2784)Gaa>Caa	p.E928Q	KANK1_ENST00000382297.2_Missense_Mutation_p.E928Q|KANK1_ENST00000382293.3_Missense_Mutation_p.E770Q|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	928					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCTGAGCAAGAAGTGGGGAC	0.522																																																0			9											71	61	64					9																	730134		2203	4300	6503	720134	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2782G>C	9.37:g.730134G>C	ENSP00000371740:p.Glu928Gln		720134	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896754	0.33535	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.17528	2.27;2.27;2.27	5.91	5.02	0.67125	.	0.337537	0.25581	N	0.029684	T	0.12817	0.0311	L	0.38531	1.155	0.80722	D	1	B;B	0.33413	0.017;0.411	B;B	0.24155	0.01;0.051	T	0.08785	-1.0705	10	0.26408	T	0.33	-12.7557	13.2538	0.60066	0.073:0.0:0.927:0.0	.	928;928	Q5W0W1;Q14678	.;KANK1_HUMAN	Q	928;928;928;770	ENSP00000371740:E928Q;ENSP00000371734:E928Q;ENSP00000371730:E770Q	ENSP00000346479:E928Q	E	+	1	0	KANK1	720134	0.838000	0.29461	0.011000	0.14972	0.145000	0.21501	2.520000	0.45554	1.512000	0.48834	0.655000	0.94253	GAA		0.522	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		C	730134	G	C	730134	3	2	263	1	0	0	0	0	1	0	0	0	7976	943	33	3	2792	3	KANK1	9	730134	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09		730134	140483297	31	14734											
CCIN	881	genome.wustl.edu	37	9	36169916	36169916	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr9:36169916G>T	ENST00000335119.2	+	1	528	c.417G>T	c.(415-417)ttG>ttT	p.L139F		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	139	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACCTCTTCTTGGCTGAGCTGT	0.517																																																0			9											128	115	119					9																	36169916		2203	4300	6503	36159916	SO:0001583	missense	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.417G>T	9.37:g.36169916G>T	ENSP00000334996:p.Leu139Phe		36159916	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291814	0.40594	.	.	ENSG00000185972	ENST00000335119	T	0.65916	-0.18	5.54	3.72	0.42706	BTB/Kelch-associated (2);	0.000000	0.43747	D	0.000532	T	0.60143	0.2246	L	0.29908	0.895	0.34103	D	0.66209	D	0.69078	0.997	D	0.81914	0.995	T	0.62181	-0.6908	10	0.02654	T	1	.	8.7342	0.34519	0.1746:0.0:0.8254:0.0	.	139	Q13939	CALI_HUMAN	F	139	ENSP00000334996:L139F	ENSP00000334996:L139F	L	+	3	2	CCIN	36159916	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.992000	0.29667	0.836000	0.34901	-0.253000	0.11424	TTG		0.517	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		T	36169916	G	T	36169916	3	4	263	1	0	0	0	0	1	0	0	0	2878	1339	47	3	419	3	CCIN	9	36169916	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	35439782	36169916	105043515	32	14735											
CTSL1	1514	genome.wustl.edu	37	9	90343539	90343539	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr9:90343539G>T	ENST00000343150.5	+	5	1326	c.436G>T	c.(436-438)Gct>Tct	p.A146S	CTSL_ENST00000340342.6_Missense_Mutation_p.A146S|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Missense_Mutation_p.A146S			P07711	CATL1_HUMAN	cathepsin L	146					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										TGCTACTGGTGCTCTTGAAGG	0.438																																																0			9											152	156	155					9																	90343539		2203	4300	6503	89533359	SO:0001583	missense	1514			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.436G>T	9.37:g.90343539G>T	ENSP00000345344:p.Ala146Ser		89533359	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944774	0.53079	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.25912	1.77;1.77;1.77	4.51	1.39	0.22231	Peptidase C1A, papain C-terminal (3);	0.277125	0.39909	N	0.001225	T	0.20981	0.0505	N	0.17723	0.515	0.80722	D	1	B	0.23854	0.092	B	0.40375	0.327	T	0.04017	-1.0984	10	0.11182	T	0.66	.	13.8398	0.63432	0.0:0.0:0.4899:0.5101	.	146	P07711	CATL1_HUMAN	S	146	ENSP00000345344:A146S;ENSP00000365061:A146S;ENSP00000340470:A146S	ENSP00000365061:A146S	A	+	1	0	CTSL1	89533359	0.986000	0.35501	0.115000	0.21578	0.970000	0.65996	1.851000	0.39338	0.486000	0.27676	0.655000	0.94253	GCT		0.438	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		T	90343539	G	T	90343539	3	4	263	1	0	0	0	0	1	0	0	0	4038	1319	46	3	450	3	CTSL1	9	90343539	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	54173623	90343539	50869892	33	14736											
DBH	1621	genome.wustl.edu	37	9	136507431	136507431	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr9:136507431C>T	ENST00000393056.2	+	3	601	c.589C>T	c.(589-591)Ctc>Ttc	p.L197F		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	197					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GAGGGTGCAGCTCCTGAAGCC	0.627																																																0			9											55	54	54					9																	136507431		2203	4300	6503	135497252	SO:0001583	missense	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.589C>T	9.37:g.136507431C>T	ENSP00000376776:p.Leu197Phe		135497252	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787537	0.70337	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.59224	0.28;0.28	4.97	4.97	0.65823	DOMON domain (1);PHM/PNGase F domain (1);	0.061993	0.64402	D	0.000003	T	0.79149	0.4397	M	0.84683	2.71	0.58432	D	0.999999	D	0.64830	0.994	D	0.74674	0.984	T	0.83119	-0.0119	10	0.72032	D	0.01	-20.0068	18.2251	0.89914	0.0:1.0:0.0:0.0	.	197	P09172	DOPO_HUMAN	F	197;134;134	ENSP00000376776:L197F;ENSP00000263611:L134F	ENSP00000263611:L134F	L	+	1	0	DBH	135497252	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	5.609000	0.67661	2.309000	0.77851	0.491000	0.48974	CTC		0.627	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		T	136507431	C	T	136507431	3	4	263	1	0	0	0	0	1	0	0	0	4250	797	28	2	599	2	DBH	9	136507431	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	46163892	136507431	4706000	34	14737											
FBXO18	84893	genome.wustl.edu	37	10	5948332	5948332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr10:5948332C>T	ENST00000362091.4	+	3	605	c.490C>T	c.(490-492)Caa>Taa	p.Q164*	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Nonsense_Mutation_p.Q215*	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	164	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGAGGCCAGGCAAGAAGCAGA	0.572																																																0			10											53	48	49					10																	5948332		2203	4300	6503	5988338	SO:0001587	stop_gained	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.490C>T	10.37:g.5948332C>T	ENSP00000355415:p.Gln164*		5988338	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Nonsense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835185	0.50951	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.76	2.49	0.30216	.	1.357460	0.04153	N	0.321677	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-0.0752	7.2325	0.26051	0.0:0.6218:0.0:0.3782	.	.	.	.	X	164;215	.	ENSP00000355415:Q164X	Q	+	1	0	FBXO18	5988338	0.000000	0.05858	0.016000	0.15963	0.009000	0.06853	0.357000	0.20199	0.789000	0.33779	-0.140000	0.14226	CAA		0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		T	5948332	C	T	5948332	4	4	263	1	0	0	0	0	0	1	0	0	5731	711	25	2	662	2	FBXO18	10	5948332	Nonsense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09		5948332	129586415	35	14738											
GPAM	57678	genome.wustl.edu	37	10	113917015	113917015	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr10:113917015A>T	ENST00000348367.4	-	19	2310	c.2113T>A	c.(2113-2115)Tac>Aac	p.Y705N	GPAM_ENST00000423155.1_Missense_Mutation_p.Y705N|GPAM_ENST00000369425.1_Missense_Mutation_p.Y705N			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	705					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACCTTCAGGTAGCAATCTCGC	0.468																																					Ovarian(161;1017 2606 18293 52943)											0			10											196	170	179					10																	113917015		2203	4300	6503	113907005	SO:0001583	missense	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2113T>A	10.37:g.113917015A>T	ENSP00000265276:p.Tyr705Asn		113907005	Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947296	0.73672	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.74526	-0.39;-0.39;-0.85	5.63	5.63	0.86233	.	0.067142	0.64402	D	0.000008	T	0.81278	0.4789	M	0.63843	1.955	0.80722	D	1	D;D	0.64830	0.994;0.984	P;P	0.58077	0.832;0.77	T	0.80935	-0.1160	10	0.40728	T	0.16	-13.3908	14.7118	0.69238	1.0:0.0:0.0:0.0	.	705;705	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	N	705	ENSP00000265276:Y705N;ENSP00000409242:Y705N;ENSP00000358433:Y705N	ENSP00000265276:Y705N	Y	-	1	0	GPAM	113907005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.280000	0.89903	2.265000	0.75225	0.533000	0.62120	TAC		0.468	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		T	113917015	A	T	113917015	3	4	263	1	0	0	0	0	1	0	0	0	6588	420	15	5	389	5	GPAM	10	113917015	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	107968683	113917015	21617732	36	14739											
PTPRJ	5795	genome.wustl.edu	37	11	48186054	48186054	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr11:48186054T>A	ENST00000418331.2	+	24	4194	c.3842T>A	c.(3841-3843)aTg>aAg	p.M1281K		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1281	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGGCCTTTAATGGTGCAGACA	0.408																																																0			11											189	166	174					11																	48186054		2201	4298	6499	48142630	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3842T>A	11.37:g.48186054T>A	ENSP00000400010:p.Met1281Lys		48142630	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239664	0.79800	.	.	ENSG00000149177	ENST00000418331	T	0.16897	2.31	4.47	4.47	0.54385	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	.	.	.	.	T	0.58666	0.2138	H	0.99090	4.425	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.75396	-0.3332	9	0.87932	D	0	.	11.9917	0.53180	0.0:0.0:0.0:1.0	.	1281	Q12913	PTPRJ_HUMAN	K	1281	ENSP00000400010:M1281K	ENSP00000400010:M1281K	M	+	2	0	PTPRJ	48142630	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.909000	0.87444	1.785000	0.52413	0.528000	0.53228	ATG		0.408	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			A	48186054	T	A	48186054	3	1	263	1	0	0	0	0	1	0	0	0	12807	1464	51	5	3945	5	PTPRJ	11	48186054	Missense_Mutation	SNP	T	TCGA-24-1847-01A-01W-0633-09		48186054	86820462	37	14740											
VWF	7450	genome.wustl.edu	37	12	6120846	6120846	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr12:6120846A>T	ENST00000261405.5	-	34	6033	c.5779T>A	c.(5779-5781)Tgc>Agc	p.C1927S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1927					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGTTAGGGCACGAAGGCCTC	0.607																																																0			12	GRCh37	CM930738	VWF	M							30	29	29					12																	6120846		2203	4300	6503	5991107	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5779T>A	12.37:g.6120846A>T	ENSP00000261405:p.Cys1927Ser		5991107	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.678740	0.47886	.	.	ENSG00000110799	ENST00000261405	T	0.75477	-0.94	5.03	5.03	0.67393	.	0.000000	0.45361	D	0.000378	D	0.85405	0.5689	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.87142	0.2203	10	0.66056	D	0.02	.	13.7556	0.62935	1.0:0.0:0.0:0.0	.	1927	P04275	VWF_HUMAN	S	1927	ENSP00000261405:C1927S	ENSP00000261405:C1927S	C	-	1	0	VWF	5991107	1.000000	0.71417	0.922000	0.36590	0.533000	0.34776	8.133000	0.89605	2.110000	0.64415	0.455000	0.32223	TGC		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6120846	A	T	6120846	3	4	263	1	0	0	0	0	1	0	0	0	17246	159	6	5	2738	5	VWF	12	6120846	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09		6120846	127731049	38	14741											
A2M	2	genome.wustl.edu	37	12	9243045	9243045	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr12:9243045G>T	ENST00000318602.7	-	20	2810	c.2503C>A	c.(2503-2505)Cta>Ata	p.L835I		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	835					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGGACAGCTAGGAAGGCGGGA	0.532																																																0			12											88	91	90					12																	9243045		2135	4275	6410	9134312	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2503C>A	12.37:g.9243045G>T	ENSP00000323929:p.Leu835Ile		9134312	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.736061	0.30774	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.13778	2.56	5.23	2.13	0.27403	.	0.650416	0.13779	N	0.363319	T	0.24236	0.0587	M	0.87547	2.89	0.25293	N	0.989348	P	0.48998	0.918	P	0.49502	0.613	T	0.13442	-1.0509	10	0.40728	T	0.16	.	3.256	0.06832	0.158:0.1375:0.563:0.1415	.	835	P01023	A2MG_HUMAN	I	835;850	ENSP00000323929:L835I	ENSP00000323929:L835I	L	-	1	2	A2M	9134312	0.009000	0.17119	0.832000	0.32986	0.043000	0.13939	0.016000	0.13377	0.656000	0.30886	0.655000	0.94253	CTA		0.532	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		T	9243045	G	T	9243045	3	4	263	1	0	0	0	0	1	0	0	0	4	991	35	3	1989	3	A2M	12	9243045	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	3122199	9243045	124608850	39	14742											
SLCO1C1	53919	genome.wustl.edu	37	12	20903691	20903691	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr12:20903691A>T	ENST00000266509.2	+	14	2249	c.1881A>T	c.(1879-1881)agA>agT	p.R627S	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R627S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R627S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R578S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.R509S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	627					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GTGGAAGTAGAGGATCATGCA	0.393																																																0			12											133	123	126					12																	20903691		2203	4300	6503	20794958	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1881A>T	12.37:g.20903691A>T	ENSP00000266509:p.Arg627Ser		20794958	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282800	0.59867	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.322024	0.36665	N	0.002468	T	0.45175	0.1329	L	0.47716	1.5	0.58432	D	0.999999	B;B;B;B	0.25312	0.123;0.07;0.016;0.032	B;B;B;B	0.39339	0.062;0.297;0.063;0.091	T	0.38908	-0.9639	10	0.35671	T	0.21	.	13.6737	0.62440	1.0:0.0:0.0:0.0	.	509;578;627;627	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	S	627;578;627;627;509	ENSP00000444149:R627S;ENSP00000438665:R578S;ENSP00000266509:R627S;ENSP00000370964:R627S;ENSP00000444527:R509S	ENSP00000266509:R627S	R	+	3	2	SLCO1C1	20794958	0.998000	0.40836	0.989000	0.46669	0.991000	0.79684	3.844000	0.55873	2.229000	0.72834	0.533000	0.62120	AGA		0.393	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		T	20903691	A	T	20903691	3	4	263	1	0	0	0	0	1	0	0	0	14728	301	11	5	1931	5	SLCO1C1	12	20903691	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	11660646	20903691	112948204	40	14743											
DNAJC22	79962	genome.wustl.edu	37	12	49745258	49745258	+	Silent	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr12:49745258C>T	ENST00000549441.2	+	4	2203	c.999C>T	c.(997-999)ccC>ccT	p.P333P	DNAJC22_ENST00000395069.3_Silent_p.P333P			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	333	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TGAGTCAACCCAGGAAGCCCT	0.562																																																0			12											42	44	44					12																	49745258		2203	4300	6503	48031525	SO:0001819	synonymous_variant	79962			AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.999C>T	12.37:g.49745258C>T			48031525	B3KP54	Silent	SNP	ENST00000549441.2	37	CCDS8785.1																																																																																				0.562	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		T	49745258	C	T	49745258	2	4	263	1	0	0	0	0	0	0	0	1	4641	581	21	2		2	DNAJC22	12	49745258	Silent	SNP	C	TCGA-24-1847-01A-01W-0633-09	28841567	49745258	84106637	41	14744											
FAM186B	84070	genome.wustl.edu	37	12	49994734	49994734	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr12:49994734A>T	ENST00000257894.2	-	4	850	c.689T>A	c.(688-690)gTc>gAc	p.V230D	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.V140D|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	230						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATGGCCCTGACCTCCCCCTT	0.567																																																0			12											124	93	104					12																	49994734		2203	4300	6503	48281001	SO:0001583	missense	84070			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.689T>A	12.37:g.49994734A>T	ENSP00000257894:p.Val230Asp		48281001	B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445042	0.63178	.	.	ENSG00000135436	ENST00000544141;ENST00000257894	T;T	0.16457	2.34;2.55	5.11	1.5	0.22942	.	0.545794	0.15447	N	0.261900	T	0.25791	0.0628	L	0.43923	1.385	0.45261	D	0.998266	D;D	0.71674	0.997;0.998	D;D	0.65010	0.931;0.925	T	0.02275	-1.1184	9	.	.	.	-6.9084	6.6854	0.23142	0.7162:0.0:0.2838:0.0	.	140;230	B4DZ15;Q8IYM0	.;F186B_HUMAN	D	140;230	ENSP00000438569:V140D;ENSP00000257894:V230D	.	V	-	2	0	FAM186B	48281001	0.952000	0.32445	0.965000	0.40720	0.935000	0.57460	1.014000	0.29950	0.087000	0.17167	-0.263000	0.10527	GTC		0.567	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		T	49994734	A	T	49994734	3	4	263	1	0	0	0	0	1	0	0	0	5512	275	10	5	2008	5	FAM186B	12	49994734	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	249476	49994734	83857161	42	14745											
KRT2	3849	genome.wustl.edu	37	12	53039212	53039212	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr12:53039212G>T	ENST00000309680.3	-	9	1532	c.1511C>A	c.(1510-1512)aCa>aAa	p.T504K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	504	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GGTGCTGCTTGTCACAGCTGC	0.547																																																0			12											152	137	142					12																	53039212		2203	4300	6503	51325479	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1511C>A	12.37:g.53039212G>T	ENSP00000310861:p.Thr504Lys		51325479	Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541872	0.45280	.	.	ENSG00000172867	ENST00000309680	D	0.90788	-2.73	4.59	2.62	0.31277	.	.	.	.	.	T	0.75273	0.3827	N	0.08118	0	0.31133	N	0.707542	P	0.44877	0.845	B	0.36719	0.231	T	0.74365	-0.3689	9	0.44086	T	0.13	.	3.8713	0.09038	0.2027:0.2142:0.5831:0.0	.	504	P35908	K22E_HUMAN	K	504	ENSP00000310861:T504K	ENSP00000310861:T504K	T	-	2	0	KRT2	51325479	0.622000	0.27085	0.999000	0.59377	0.955000	0.61496	0.591000	0.23969	2.281000	0.76405	0.561000	0.74099	ACA		0.547	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		T	53039212	G	T	53039212	3	4	263	1	0	0	0	0	1	0	0	0	8457	1377	48	3	412	3	KRT2	12	53039212	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	3044478	53039212	80812683	43	14746											
KIF5A	3798	genome.wustl.edu	37	12	57957265	57957265	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr12:57957265C>T	ENST00000455537.2	+	2	447	c.173C>T	c.(172-174)aCt>aTt	p.T58I	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	58	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCAAACACGACTCAAGAGCAA	0.423																																																0			12											106	95	98					12																	57957265		2203	4300	6503	56243532	SO:0001583	missense	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.173C>T	12.37:g.57957265C>T	ENSP00000408979:p.Thr58Ile		56243532	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228429	0.79576	.	.	ENSG00000155980	ENST00000455537	T	0.74737	-0.87	4.59	4.59	0.56863	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.90696	0.7081	H	0.96604	3.85	0.80722	D	1	D	0.54772	0.968	D	0.70227	0.968	D	0.93256	0.6639	10	0.72032	D	0.01	.	17.3911	0.87431	0.0:1.0:0.0:0.0	.	58	Q12840	KIF5A_HUMAN	I	58	ENSP00000408979:T58I	ENSP00000408979:T58I	T	+	2	0	KIF5A	56243532	0.996000	0.38824	1.000000	0.80357	0.964000	0.63967	3.580000	0.53907	2.835000	0.97688	0.650000	0.86243	ACT		0.423	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		T	57957265	C	T	57957265	3	4	263	1	0	0	0	0	1	0	0	0	8305	565	20	2	179	2	KIF5A	12	57957265	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	4918053	57957265	75894630	44	14747											
DTX3	196403	genome.wustl.edu	37	12	58000985	58000985	+	Silent	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr12:58000985G>A	ENST00000548198.1	+	3	1843	c.339G>A	c.(337-339)gaG>gaA	p.E113E	DTX3_ENST00000548804.1_Silent_p.E113E|DTX3_ENST00000551632.1_Silent_p.E116E|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000337737.3_Silent_p.E113E			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	113					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GTGGAGGGGAGCACCCTGAGA	0.687																																																0			12											21	24	23					12																	58000985		1900	4107	6007	56287252	SO:0001819	synonymous_variant	196403			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"RING-type (C3HC4) zinc fingers"	24457	protein-coding gene	gene with protein product		613142	"deltex 3 homolog (Drosophila)", "deltex homolog 3 (Drosophila)"			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.339G>A	12.37:g.58000985G>A			56287252	Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	ENST00000548198.1	37	CCDS41800.1																																																																																				0.687	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		A	58000985	G	A	58000985	2	1	263	1	0	0	0	0	0	0	0	1	4795	962	34	2		2	DTX3	12	58000985	Silent	SNP	G	TCGA-24-1847-01A-01W-0633-09	43720	58000985	75850910	45	14748											
CCDC70	83446	genome.wustl.edu	37	13	52439768	52439768	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr13:52439768G>A	ENST00000242819.4	+	2	550	c.254G>A	c.(253-255)gGt>gAt	p.G85D		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	85						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CAGATCCTGGGTTTTTGGGAA	0.463																																																0			13											51	60	57					13																	52439768		2198	4296	6494	51337769	SO:0001583	missense	83446				CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.254G>A	13.37:g.52439768G>A	ENSP00000242819:p.Gly85Asp		51337769	Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	0.997	-0.692038	0.03303	.	.	ENSG00000123171	ENST00000242819	T	0.30714	1.52	5.31	-1.1	0.09872	.	0.370017	0.23389	N	0.048705	T	0.21062	0.0507	M	0.68317	2.08	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.16571	-1.0398	10	0.18710	T	0.47	-16.6601	1.1714	0.01826	0.315:0.2517:0.3048:0.1286	.	85	Q6NSX1	CCD70_HUMAN	D	85	ENSP00000242819:G85D	ENSP00000242819:G85D	G	+	2	0	CCDC70	51337769	0.989000	0.36119	0.049000	0.19019	0.013000	0.08279	1.478000	0.35442	-0.026000	0.13895	-0.253000	0.11424	GGT		0.463	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		A	52439768	G	A	52439768	3	1	263	1	0	0	0	0	1	0	0	0	2843	1261	44	2	256	2	CCDC70	13	52439768	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09		52439768	62730110	46	14749											
CEBPE	1053	genome.wustl.edu	37	14	23586943	23586943	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr14:23586943A>C	ENST00000206513.5	-	2	1123	c.599T>G	c.(598-600)gTg>gGg	p.V200G		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	200					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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 positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		ATCTTTGTTCACTGCCTTCTT	0.647																																					NSCLC(63;1230 1818 14565 22565)											0			14											60	63	62					14																	23586943		2203	4300	6503	22656783	SO:0001583	missense	1053				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"basic leucine zipper proteins"	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.599T>G	14.37:g.23586943A>C	ENSP00000206513:p.Val200Gly		22656783	Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.688318	0.88639	.	.	ENSG00000092067	ENST00000206513	T	0.49432	0.78	5.2	5.2	0.72013	.	0.059548	0.64402	D	0.000004	T	0.49932	0.1586	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	P	0.54889	0.763	T	0.54781	-0.8242	10	0.87932	D	0	-25.8804	14.0425	0.64684	1.0:0.0:0.0:0.0	.	200	Q15744	CEBPE_HUMAN	G	200	ENSP00000206513:V200G	ENSP00000206513:V200G	V	-	2	0	CEBPE	22656783	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	9.292000	0.96076	1.956000	0.56807	0.533000	0.62120	GTG		0.647	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		C	23586943	A	C	23586943	3	2	263	1	0	0	0	0	1	0	0	0	3202	159	6	5	250	5	CEBPE	14	23586943	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09		23586943	83762597	47	14750											
ANGEL1	23357	genome.wustl.edu	37	14	77272845	77272845	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr14:77272845C>T	ENST00000251089.2	-	5	1406	c.1294G>A	c.(1294-1296)Ggg>Agg	p.G432R	ANGEL1_ENST00000554941.1_5'Flank|ANGEL1_ENST00000557179.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	432										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TTTAGGTCCCCGCACAAGATG	0.572																																																0			14											81	71	74					14																	77272845		2203	4300	6503	76342598	SO:0001583	missense	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1294G>A	14.37:g.77272845C>T	ENSP00000251089:p.Gly432Arg		76342598	B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141365	0.94560	.	.	ENSG00000013523	ENST00000251089	D	0.99701	-6.45	5.96	5.96	0.96718	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97267	0.9908	10	0.87932	D	0	-7.9416	20.422	0.99049	0.0:1.0:0.0:0.0	.	432	Q9UNK9	ANGE1_HUMAN	R	432	ENSP00000251089:G432R	ENSP00000251089:G432R	G	-	1	0	ANGEL1	76342598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GGG		0.572	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		T	77272845	C	T	77272845	3	4	263	1	0	0	0	0	1	0	0	0	608	652	23	1	742	1	ANGEL1	14	77272845	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	53685902	77272845	30076695	48	14751											
NRXN3	9369	genome.wustl.edu	37	14	79746760	79746760	+	Silent	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr14:79746760C>T	ENST00000557594.1	+	1	1079	c.126C>T	c.(124-126)tcC>tcT	p.S42S	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Silent_p.S42S|NRXN3_ENST00000281127.7_Silent_p.S42S|NRXN3_ENST00000335750.5_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	42					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TAGCTTCCTCCTCCTCCACCT	0.567																																																0			14											217	192	201					14																	79746760		2203	4300	6503	78816513	SO:0001819	synonymous_variant	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.126C>T	14.37:g.79746760C>T			78816513	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37																																																																																					0.567	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		T	79746760	C	T	79746760	2	4	263	1	0	0	0	0	0	0	0	1	10667	668	24	2		2	NRXN3	14	79746760	Silent	SNP	C	TCGA-24-1847-01A-01W-0633-09	2473915	79746760	27602780	49	14752											
MOAP1	64112	genome.wustl.edu	37	14	93650084	93650084	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr14:93650084G>T	ENST00000556883.1	-	2	988	c.504C>A	c.(502-504)ttC>ttA	p.F168L	MOAP1_ENST00000298894.4_Missense_Mutation_p.F168L|TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	168					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ccctgcccgagaacactctca	0.507																																																0			14											72	76	75					14																	93650084		2203	4300	6503	92719837	SO:0001583	missense	64112			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.504C>A	14.37:g.93650084G>T	ENSP00000451594:p.Phe168Leu		92719837	B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679712	0.47886	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.14144	2.53;2.53	3.78	3.78	0.43462	.	.	.	.	.	T	0.35828	0.0945	M	0.78049	2.395	0.33866	D	0.634402	D	0.67145	0.996	D	0.73380	0.98	T	0.50825	-0.8782	9	0.72032	D	0.01	5.2174	11.5084	0.50481	0.0:0.0:1.0:0.0	.	168	Q96BY2	MOAP1_HUMAN	L	168	ENSP00000298894:F168L;ENSP00000451594:F168L	ENSP00000298894:F168L	F	-	3	2	MOAP1	92719837	0.998000	0.40836	0.986000	0.45419	0.080000	0.17528	1.869000	0.39519	2.411000	0.81874	0.650000	0.86243	TTC		0.507	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			T	93650084	G	T	93650084	3	4	263	1	0	0	0	0	1	0	0	0	9680	933	33	3	555	3	MOAP1	14	93650084	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	13903324	93650084	13699456	50	14753											
TUBGCP5	114791	genome.wustl.edu	37	15	22855183	22855183	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr15:22855183G>A	ENST00000283645.4	+	13	1774	c.1644G>A	c.(1642-1644)atG>atA	p.M548I	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.M548I|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	548					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGCACACCATGGTGTCCTTCC	0.527																																																0			15											72	66	68					15																	22855183		2203	4300	6503	20406624	SO:0001583	missense	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1644G>A	15.37:g.22855183G>A	ENSP00000283645:p.Met548Ile		20406624	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014956	0.54468	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.09445	2.98;2.98	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.13114	0.0318	L	0.43152	1.355	0.80722	D	1	B;B;B	0.31383	0.321;0.321;0.321	B;B;B	0.35039	0.194;0.194;0.194	T	0.11842	-1.0571	10	0.21540	T	0.41	-33.7183	18.5854	0.91187	0.0:0.0:1.0:0.0	.	548;548;548	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	I	548	ENSP00000283645:M548I;ENSP00000409217:M548I	ENSP00000283645:M548I	M	+	3	0	TUBGCP5	20406624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.627000	0.90974	2.686000	0.91538	0.655000	0.94253	ATG		0.527	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		A	22855183	G	A	22855183	3	1	263	1	0	0	0	0	1	0	0	0	16769	1348	47	2	1694	2	TUBGCP5	15	22855183	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09		22855183	79676209	51	14754											
CYP11A1	1583	genome.wustl.edu	37	15	74630410	74630410	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr15:74630410A>T	ENST00000268053.6	-	9	1623	c.1469T>A	c.(1468-1470)cTc>cAc	p.L490H	CYP11A1_ENST00000419019.2_Missense_Mutation_p.L332H|CYP11A1_ENST00000358632.4_Missense_Mutation_p.L332H	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	490					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CACATCGCTGAGGTGTTGGAT	0.522																																					Esophageal Squamous(87;818 1337 4093 9268 37314)											0			15											154	135	142					15																	74630410		2198	4297	6495	72417463	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1469T>A	15.37:g.74630410A>T	ENSP00000268053:p.Leu490His		72417463	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	A	1.566	-0.535380	0.04082	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.68025	-0.3;-0.3;-0.3	5.15	5.15	0.70609	.	0.690904	0.14825	N	0.296186	T	0.46870	0.1415	N	0.13043	0.29	0.09310	N	0.999992	B;B	0.23128	0.08;0.031	B;B	0.20384	0.029;0.008	T	0.30880	-0.9963	10	0.41790	T	0.15	-13.1644	6.7554	0.23510	0.7635:0.1549:0.0816:0.0	.	460;490	B4DTE5;P05108	.;CP11A_HUMAN	H	490;332;332;255	ENSP00000268053:L490H;ENSP00000351455:L332H;ENSP00000405488:L332H	ENSP00000268053:L490H	L	-	2	0	CYP11A1	72417463	0.021000	0.18746	0.013000	0.15412	0.020000	0.10135	2.591000	0.46163	1.937000	0.56155	0.448000	0.29417	CTC		0.522	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			T	74630410	A	T	74630410	3	4	263	1	0	0	0	0	1	0	0	0	4144	304	11	5	100	5	CYP11A1	15	74630410	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	51775227	74630410	27900982	52	14755											
KIAA0430	9665	genome.wustl.edu	37	16	15695884	15695884	+	Silent	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr16:15695884G>A	ENST00000396368.3	-	23	4796	c.4590C>T	c.(4588-4590)caC>caT	p.H1530H	KIAA0430_ENST00000540441.2_Silent_p.H1365H|KIAA0430_ENST00000548025.1_Silent_p.H1527H|KIAA0430_ENST00000602337.1_Silent_p.H1527H|KIAA0430_ENST00000344181.3_Silent_p.H1213H|KIAA0430_ENST00000547936.1_5'Flank|KIAA0430_ENST00000551742.1_Silent_p.H1530H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1530	HTH OST-type 8. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCACGCTGCTGTGGCCGTAGG	0.502																																																0			16											143	140	141					16																	15695884		1887	4122	6009	15603385	SO:0001819	synonymous_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4590C>T	16.37:g.15695884G>A			15603385	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	CCDS10562.2																																																																																				0.502	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		A	15695884	G	A	15695884	2	1	263	1	0	0	0	0	0	0	0	1	8177	1368	48	2		2	KIAA0430	16	15695884	Silent	SNP	G	TCGA-24-1847-01A-01W-0633-09		15695884	74658869	53	14756											
GPRC5B	51704	genome.wustl.edu	37	16	19883796	19883804	+	In_Frame_Del	DEL	GACAGAGCA	GACAGAGCA	-	rs376667953		TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	GACAGAGCA	GACAGAGCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr16:19883796_19883804delGACAGAGCA	ENST00000300571.2	-	2	555_563	c.364_372delTGCTCTGTC	c.(364-372)tgctctgtcdel	p.CSV122del	GPRC5B_ENST00000535671.1_In_Frame_Del_p.CSV122del|GPRC5B_ENST00000569479.1_In_Frame_Del_p.CSV122del|GPRC5B_ENST00000537135.1_In_Frame_Del_p.CSV148del|GPRC5B_ENST00000569847.1_In_Frame_Del_p.CSV122del	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	122					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGAAGCGGCGGACAGAGCAGATGGTCTCG	0.651																																																0			16																																								19791305	SO:0001651	inframe_deletion	51704			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.364_372delTGCTCTGTC	16.37:g.19883796_19883804delGACAGAGCA	ENSP00000300571:p.Cys122_Val124del		19791297	D2DFB0|O75205|Q8NBZ8	In_Frame_Del	DEL	ENST00000300571.2	37	CCDS10581.1																																																																																				0.651	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			-	19883804	GACAGAGCA	-	19883796	7	5	263	1	0	1	0	1	0	0	0	0	6725	1161	41	0	851	0	GPRC5B	16	19883796	In_Frame_Del	DEL	GACAGAGCA	TCGA-24-1847-01A-01W-0633-09	4187912	19883796	70470957	54	14757											
TP53	7157	genome.wustl.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	A	rs587781525		TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr17:7577096T>A	ENST00000269305.4	-	8	1031	c.842A>T	c.(841-843)gAc>gTc	p.D281V	TP53_ENST00000420246.2_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000359597.4_Missense_Mutation_p.D281V|TP53_ENST00000445888.2_Missense_Mutation_p.D281V	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TGTGCGCCGGTCTCTCCCAGG	0.552		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"	44	Substitution - Missense(18)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(8)|upper_aerodigestive_tract(7)|breast(5)|lung(5)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|stomach(2)|urinary_tract(2)|oesophagus(1)	17	GRCh37	CM004343|CM056068	TP53	M							82	70	74					17																	7577096		2203	4300	6503	7517821	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.842A>T	17.37:g.7577096T>A	ENSP00000269305:p.Asp281Val		7517821	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	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794528	0.90453	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99872	-7.37;-7.37;-7.37;-7.37;-7.37;-7.37	5.13	5.13	0.70059	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	0.99876	0.9941	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.991	D;D;D;D	0.97110	0.99;1.0;0.99;0.99	D	0.96385	0.9284	10	0.87932	D	0	-25.6697	12.9367	0.58319	0.0:0.0:0.0:1.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	281;281;281;281;281;270;149	ENSP00000352610:D281V;ENSP00000269305:D281V;ENSP00000398846:D281V;ENSP00000391127:D281V;ENSP00000391478:D281V;ENSP00000425104:D149V	ENSP00000269305:D281V	D	-	2	0	TP53	7517821	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577096	T	A	7577096	3	1	263	1	0	0	0	0	1	0	0	0	16381	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	SNP	T	TCGA-24-1847-01A-01W-0633-09		7577096	73618114	55	14758											
BRCA1	672	genome.wustl.edu	37	17	41256249	41256249	+	Nonsense_Mutation	SNP	C	C	A	rs80357754		TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr17:41256249C>A	ENST00000357654.3	-	6	449	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.E111*|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.E111*|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.E111*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.E111*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E64*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.E111*|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.E111*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E111*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	111					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAGTTATTTTCCTTTTTTGCA	0.328			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17											165	158	161					17																	41256249		2203	4300	6503	38509775	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.331G>T	17.37:g.41256249C>A	ENSP00000350283:p.Glu111*		38509775	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.461792|4.461792	0.84425|0.84425	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777;ENST00000489037|ENST00000473961	.|.	.|.	.|.	5.32|5.32	-2.12|-2.12	0.07165|0.07165	.|.	0.654924|.	0.14113|.	N|.	0.340572|.	.|T	.|0.44201	.|0.1282	.|.	.|.	.|.	0.37212|0.37212	D|D	0.90486|0.90486	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43925	.|-0.9361	.|4	0.52906|.	T|.	0.07|.	.|.	5.9019|5.9019	0.18972|0.18972	0.0:0.3641:0.3927:0.2432|0.0:0.3641:0.3927:0.2432	.|.	.|.	.|.	.|.	X|S	111;111;111;111;111;111;111;64;111;64;111;111;27;64;27;111;85;111;111;85|18	.|.	ENSP00000246907:E111X|.	E|R	-|-	1|3	0|2	BRCA1|BRCA1	38509775|38509775	0.736000|0.736000	0.28164|0.28164	0.958000|0.958000	0.39756|0.39756	0.959000|0.959000	0.62525|0.62525	0.051000|0.051000	0.14141|0.14141	-0.186000|-0.186000	0.10533|0.10533	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.328	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41256249	C	A	41256249	4	1	263	1	0	0	0	0	0	1	0	0	1498	864	30	3	5402	3	BRCA1	17	41256249	Nonsense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	33679153	41256249	39938961	56	14759											
ATXN7L3	56970	genome.wustl.edu	37	17	42275012	42275012	+	Silent	SNP	G	G	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr17:42275012G>C	ENST00000454077.2	-	2	137	c.138C>G	c.(136-138)ggC>ggG	p.G46G	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Silent_p.G46G|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGAAGAAGTAGCCACACTTGA	0.572																																																0			17											150	152	152					17																	42275012		2012	4192	6204	39630538	SO:0001819	synonymous_variant	0			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.138C>G	17.37:g.42275012G>C			39630538		Silent	SNP	ENST00000454077.2	37	CCDS45697.1																																																																																				0.572	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			C	42275012	G	C	42275012	2	2	263	1	0	0	0	0	0	0	0	1	1218	958	34	3		3	ATXN7L3	17	42275012	Silent	SNP	G	TCGA-24-1847-01A-01W-0633-09	1018763	42275012	38920198	57	14760											
C17orf57	124989	genome.wustl.edu	37	17	45468910	45468910	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr17:45468910G>C	ENST00000331493.2	+	15	2101	c.1690G>C	c.(1690-1692)Gaa>Caa	p.E564Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E468Q	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	564						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TTCTAAGCCAGAATTTAAGAA	0.333																																																0			17											66	69	68					17																	45468910		2203	4299	6502	42823909	SO:0001583	missense	124989			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1690G>C	17.37:g.45468910G>C	ENSP00000332111:p.Glu564Gln		42823909	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651386	0.47362	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176;ENST00000523842	T;T;T	0.71698	-0.16;-0.59;0.3	3.2	2.22	0.28083	EF-hand-like domain (1);	0.563019	0.16379	N	0.217000	T	0.78253	0.4254	M	0.61703	1.905	0.25173	N	0.990268	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.998	T	0.64732	-0.6338	10	0.66056	D	0.02	0.2218	6.356	0.21402	0.1371:0.0:0.8629:0.0	.	516;564;468	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	Q	564;468;516;90	ENSP00000332111:E564Q;ENSP00000430048:E468Q;ENSP00000429566:E90Q	ENSP00000332111:E564Q	E	+	1	0	C17orf57	42823909	0.998000	0.40836	0.982000	0.44146	0.864000	0.49448	3.112000	0.50368	0.892000	0.36259	-0.373000	0.07131	GAA		0.333	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		C	45468910	G	C	45468910	3	2	263	1	0	0	0	0	1	0	0	0	1865	943	33	3	1736	3	C17orf57	17	45468910	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	3193898	45468910	35726300	58	14761											
RGS9	8787	genome.wustl.edu	37	17	63206701	63206701	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr17:63206701C>A	ENST00000262406.9	+	17	1452	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	RGS9_ENST00000449996.3_Missense_Mutation_p.A459D|RGS9_ENST00000443584.3_Missense_Mutation_p.A459D	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	462					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGAGAAGCAGCCAACACTGTG	0.577																																																0			17											64	70	68					17																	63206701		2045	4202	6247	60637163	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1385C>A	17.37:g.63206701C>A	ENSP00000262406:p.Ala462Asp		60637163	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906290	0.33628	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.44083	0.98;0.93	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	L	0.53249	1.67	0.51482	D	0.999928	P;D;D	0.89917	0.931;1.0;1.0	P;D;D	0.91635	0.522;0.998;0.999	T	0.64317	-0.6436	10	0.72032	D	0.01	.	19.013	0.92881	0.0:1.0:0.0:0.0	.	462;462;459	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	D	462;459	ENSP00000262406:A462D;ENSP00000396329:A459D	ENSP00000262406:A462D	A	+	2	0	RGS9	60637163	1.000000	0.71417	0.998000	0.56505	0.599000	0.36880	4.299000	0.59073	2.571000	0.86741	0.655000	0.94253	GCC		0.577	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		A	63206701	C	A	63206701	3	1	263	1	0	0	0	0	1	0	0	0	13316	739	26	3	1451	3	RGS9	17	63206701	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	17737791	63206701	17988509	59	14762											
KIAA0802	23255	genome.wustl.edu	37	18	8796300	8796300	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr18:8796300C>G	ENST00000306329.11	+	7	3038	c.3038C>G	c.(3037-3039)aCc>aGc	p.T1013S	SOGA2_ENST00000359865.3_Missense_Mutation_p.T694S|SOGA2_ENST00000400050.3_Missense_Mutation_p.T653S|SOGA2_ENST00000518815.1_Missense_Mutation_p.T9S|SOGA2_ENST00000517570.1_Missense_Mutation_p.T653S|SOGA2_ENST00000306285.7_Missense_Mutation_p.T9S																							TTGCAAAACACCCTCCATGAG	0.493																																																0			18											133	120	124					18																	8796300		2203	4300	6503	8786300	SO:0001583	missense	23255																														ENST00000306329.11:c.3038C>G	18.37:g.8796300C>G	ENSP00000305027:p.Thr1013Ser		8786300		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	9.055	0.993017	0.19043	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.76	2.81	0.32909	.	0.784196	0.11548	N	0.553050	T	0.30293	0.0760	N	0.25647	0.755	0.09310	N	0.999992	B;B	0.20052	0.024;0.041	B;B	0.14578	0.005;0.011	T	0.20438	-1.0275	10	0.45353	T	0.12	-9.5542	9.9482	0.41623	0.2427:0.5674:0.1899:0.0	.	1004;694	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	S	715;653;694;653;9	ENSP00000429556:T653S;ENSP00000352927:T694S;ENSP00000382924:T653S;ENSP00000303670:T9S	ENSP00000303670:T9S	T	+	2	0	CCDC165	8786300	0.950000	0.32346	0.015000	0.15790	0.671000	0.39405	1.678000	0.37586	0.346000	0.23899	-0.795000	0.03280	ACC		0.493	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			G	8796300	C	G	8796300	3	3	263	1	0	0	0	0	1	0	0	0	8194	507	18	3	2107	3	KIAA0802	18	8796300	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09		8796300	69280948	60	14763											
ADNP2	22850	genome.wustl.edu	37	18	77894466	77894466	+	Silent	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr18:77894466C>T	ENST00000262198.4	+	4	1625	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	390	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTAGTGTCCTCCCCATAAATC	0.537																																																0			18											89	87	88					18																	77894466		2203	4300	6503	75995457	SO:0001819	synonymous_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1170C>T	18.37:g.77894466C>T			75995457	A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	CCDS32853.1																																																																																				0.537	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		T	77894466	C	T	77894466	2	4	263	1	0	0	0	0	0	0	0	1	324	842	30	2		2	ADNP2	18	77894466	Silent	SNP	C	TCGA-24-1847-01A-01W-0633-09	69098166	77894466	182782	61	14764											
COL5A3	50509	genome.wustl.edu	37	19	10104340	10104340	+	Silent	SNP	A	A	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr19:10104340A>C	ENST00000264828.3	-	18	1735	c.1650T>G	c.(1648-1650)cgT>cgG	p.R550R	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	550	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CATCGAAGCCACGATCACCCT	0.582																																																0			19											157	133	141					19																	10104340		2203	4300	6503	9965340	SO:0001819	synonymous_variant	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1650T>G	19.37:g.10104340A>C			9965340	Q9NZQ6	Silent	SNP	ENST00000264828.3	37	CCDS12222.1																																																																																				0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		C	10104340	A	C	10104340	2	2	263	1	0	0	0	0	0	0	0	1	3698	146	6	5		5	COL5A3	19	10104340	Silent	SNP	A	TCGA-24-1847-01A-01W-0633-09		10104340	49024643	62	14765											
TSPAN16	26526	genome.wustl.edu	37	19	11408870	11408870	+	Missense_Mutation	SNP	C	C	T	rs143650478	byFrequency	TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr19:11408870C>T	ENST00000316737.1	+	2	272	c.122C>T	c.(121-123)gCc>gTc	p.A41V	TSPAN16_ENST00000592955.1_Missense_Mutation_p.A41V|TSPAN16_ENST00000590327.1_Missense_Mutation_p.A41V|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	41						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGTGGAGGGGCCTCTCTGACG	0.517																																																0			19											175	146	156					19																	11408870		2203	4300	6503	11269870	SO:0001583	missense	26526			BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"Tetraspanins"	30725	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 16"	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.122C>T	19.37:g.11408870C>T	ENSP00000319486:p.Ala41Val		11269870	K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365908	0.61513	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	T;T	0.35421	1.31;2.72	3.57	3.57	0.40892	.	1.026800	0.07820	N	0.959602	T	0.34279	0.0892	L	0.35723	1.085	0.09310	N	1	P	0.41420	0.749	B	0.42163	0.378	T	0.19745	-1.0296	10	0.51188	T	0.08	-6.5183	10.972	0.47444	0.0:1.0:0.0:0.0	.	41	Q9UKR8	TSN16_HUMAN	V	41	ENSP00000319486:A41V;ENSP00000338759:A41V	ENSP00000319486:A41V	A	+	2	0	TSPAN16	11269870	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.433000	0.21477	2.287000	0.76781	0.462000	0.41574	GCC		0.517	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		T	11408870	C	T	11408870	3	4	263	1	0	0	0	0	1	0	0	0	16640	739	26	2	128	2	TSPAN16	19	11408870	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	1304530	11408870	47720113	63	14766											
CYP4F22	126410	genome.wustl.edu	37	19	15640576	15640576	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr19:15640576C>A	ENST00000269703.3	+	4	478	c.279C>A	c.(277-279)caC>caA	p.H93Q	CYP4F22_ENST00000601005.2_Missense_Mutation_p.H93Q	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	93						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ACAACATGCACCATGTACTCT	0.542																																																0			19											194	142	160					19																	15640576		2203	4300	6503	15501576	SO:0001583	missense	126410				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.279C>A	19.37:g.15640576C>A	ENSP00000269703:p.His93Gln		15501576	Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553733	0.27739	.	.	ENSG00000171954	ENST00000269703	D	0.87966	-2.32	5.23	-2.35	0.06684	.	0.588964	0.17284	N	0.179897	T	0.59689	0.2212	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.16722	0.016	T	0.53606	-0.8415	10	0.33940	T	0.23	.	1.6684	0.02807	0.1321:0.35:0.1289:0.389	.	93	Q6NT55	CP4FN_HUMAN	Q	93	ENSP00000269703:H93Q	ENSP00000269703:H93Q	H	+	3	2	CYP4F22	15501576	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.156000	0.10100	-0.584000	0.05913	0.462000	0.41574	CAC		0.542	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		A	15640576	C	A	15640576	3	1	263	1	0	0	0	0	1	0	0	0	4189	506	18	3	285	3	CYP4F22	19	15640576	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	4231706	15640576	43488407	64	14767											
MLL4	9757	genome.wustl.edu	37	19	36210703	36210703	+	Missense_Mutation	SNP	C	C	T	rs200918556	byFrequency	TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr19:36210703C>T	ENST00000222270.7	+	3	454	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	KMT2B_ENST00000341701.1_Missense_Mutation_p.R152W|KMT2B_ENST00000420124.1_Missense_Mutation_p.R152W|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	152					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCCCGAGGTCGGGGTCGCAA	0.617													C|||	3	0.000599042	0.0023	0	5008	,	,		16663	0		0	False		,,,				2504	0															0			19						C	TRP/ARG	5,3831		0,5,1913	72	79	77		454	5.1	1	19		77	0,8248		0,0,4124	yes	missense	MLL4	NM_014727.1	101	0,5,6037	TT,TC,CC		0.0,0.1303,0.0414	probably-damaging	152/2716	36210703	5,12079	1918	4124	6042	40902543	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.454C>T	19.37:g.36210703C>T	ENSP00000222270:p.Arg152Trp		40902543	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	18.88	3.718135	0.68844	0.001303	0.0	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.85088	-1.94;-1.94;0.62	5.06	5.06	0.68205	AT hook, DNA-binding motif (1);	0.000000	0.38326	N	0.001738	D	0.85323	0.5670	N	0.14661	0.345	0.38899	D	0.957286	D	0.89917	1.0	D	0.77557	0.99	D	0.88078	0.2805	10	0.87932	D	0	.	13.7988	0.63188	0.0:1.0:0.0:0.0	.	152	Q9UMN6	MLL4_HUMAN	W	152	ENSP00000222270:R152W;ENSP00000398837:R152W;ENSP00000345761:R152W	ENSP00000222270:R152W	R	+	1	2	AD000671.1	40902543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.169000	0.42434	2.632000	0.89209	0.561000	0.74099	CGG		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36210703	C	T	36210703	3	4	263	1	0	0	0	0	1	0	0	0	9623	875	31	1	464	1	MLL4	19	36210703	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	20570127	36210703	22918280	65	14768											
ZSCAN5B	342933	genome.wustl.edu	37	19	56704331	56704331	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr19:56704331T>A	ENST00000586855.2	-	2	404	c.91A>T	c.(91-93)Act>Tct	p.T31S	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.T31S			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	31					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCAAGTTGAGTTTCTGGGGAC	0.552																																																0			19											66	57	60					19																	56704331		692	1591	2283	61396143	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.91A>T	19.37:g.56704331T>A	ENSP00000466072:p.Thr31Ser		61396143		Missense_Mutation	SNP	ENST00000586855.2	37	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	T	7.218	0.596759	0.13875	.	.	ENSG00000197213	ENST00000358992	T	0.05319	3.46	1.42	-1.12	0.09808	.	.	.	.	.	T	0.07954	0.0199	M	0.72118	2.19	0.09310	N	1	P	0.50443	0.935	P	0.45753	0.492	T	0.29882	-0.9997	9	0.12766	T	0.61	.	4.3711	0.11247	0.0:0.4391:0.0:0.5609	.	31	A6NJL1	ZSA5B_HUMAN	S	31	ENSP00000351883:T31S	ENSP00000351883:T31S	T	-	1	0	ZSCAN5B	61396143	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.158000	0.16422	-0.424000	0.07382	0.260000	0.18958	ACT		0.552	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		A	56704331	T	A	56704331	3	1	263	1	0	0	0	0	1	0	0	0	18239	1725	60	5	1412	5	ZSCAN5B	19	56704331	Missense_Mutation	SNP	T	TCGA-24-1847-01A-01W-0633-09	20493628	56704331	2424652	66	14769											
USP29	57663	genome.wustl.edu	37	19	57641014	57641014	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr19:57641014C>G	ENST00000254181.4	+	4	1425	c.971C>G	c.(970-972)cCc>cGc	p.P324R	USP29_ENST00000598197.1_Missense_Mutation_p.P324R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	324	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATATATTCCCTTTGAGGCT	0.383																																																0			19											89	89	89					19																	57641014		2203	4300	6503	62332826	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.971C>G	19.37:g.57641014C>G	ENSP00000254181:p.Pro324Arg		62332826		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510584	0.44660	.	.	ENSG00000131864	ENST00000254181	T	0.29397	1.57	2.68	2.68	0.31781	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.116792	0.29699	U	0.011438	T	0.46580	0.1400	L	0.56340	1.77	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.16335	-1.0406	10	0.51188	T	0.08	-2.6709	11.5289	0.50597	0.0:1.0:0.0:0.0	.	324	Q9HBJ7	UBP29_HUMAN	R	324	ENSP00000254181:P324R	ENSP00000254181:P324R	P	+	2	0	USP29	62332826	0.957000	0.32711	0.010000	0.14722	0.015000	0.08874	4.441000	0.59981	1.767000	0.52121	0.655000	0.94253	CCC		0.383	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			G	57641014	C	G	57641014	3	3	263	1	0	0	0	0	1	0	0	0	17059	623	22	3	973	3	USP29	19	57641014	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	936683	57641014	1487969	67	14770											
ZSCAN22	342945	genome.wustl.edu	37	19	58849914	58849914	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr19:58849914G>T	ENST00000329665.4	+	3	845	c.698G>T	c.(697-699)tGg>tTg	p.W233L		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	233					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TCTAGTGCGTGGCCAAACCTC	0.522																																																0			19											166	175	172					19																	58849914		2203	4300	6503	63541726	SO:0001583	missense	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.698G>T	19.37:g.58849914G>T	ENSP00000332433:p.Trp233Leu		63541726	Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	2.698	-0.271623	0.05716	.	.	ENSG00000182318	ENST00000329665	T	0.06933	3.24	4.02	1.69	0.24217	.	.	.	.	.	T	0.04272	0.0118	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45948	-0.9226	9	0.10111	T	0.7	.	2.5747	0.04803	0.2219:0.0:0.5224:0.2558	.	233	P10073	ZSC22_HUMAN	L	233	ENSP00000332433:W233L	ENSP00000332433:W233L	W	+	2	0	ZSCAN22	63541726	0.024000	0.19004	0.085000	0.20634	0.142000	0.21351	1.767000	0.38501	0.876000	0.35872	0.313000	0.20887	TGG		0.522	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		T	58849914	G	T	58849914	3	4	263	1	0	0	0	0	1	0	0	0	18234	1357	47	3	704	3	ZSCAN22	19	58849914	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	1208900	58849914	279069	68	14771											
PDYN	5173	genome.wustl.edu	37	20	1961029	1961029	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr20:1961029C>A	ENST00000217305.2	-	4	930	c.705G>T	c.(703-705)aaG>aaT	p.K235N	PDYN_ENST00000539905.1_Missense_Mutation_p.K235N|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.K235N	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	235					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGTCACCACCTTGAACTGGC	0.527																																																0			20											98	107	104					20																	1961029		2203	4300	6503	1909029	SO:0001583	missense	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.705G>T	20.37:g.1961029C>A	ENSP00000217305:p.Lys235Asn		1909029	A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686143	0.68157	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.82167	-1.58;-1.58;-1.58	5.0	2.92	0.33932	.	0.000000	0.85682	D	0.000000	D	0.89033	0.6600	M	0.82323	2.585	0.53005	D	0.999967	D	0.89917	1.0	D	0.91635	0.999	D	0.86613	0.1874	10	0.30078	T	0.28	-33.3712	7.9016	0.29738	0.0:0.7337:0.1684:0.0979	.	235	P01213	PDYN_HUMAN	N	235	ENSP00000440185:K235N;ENSP00000442259:K235N;ENSP00000217305:K235N	ENSP00000217305:K235N	K	-	3	2	PDYN	1909029	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.478000	0.35442	1.328000	0.45358	0.313000	0.20887	AAG		0.527	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			A	1961029	C	A	1961029	3	1	263	1	0	0	0	0	1	0	0	0	11699	680	24	3	63	3	PDYN	20	1961029	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09		1961029	61064491	69	14772											
SEC23B	10483	genome.wustl.edu	37	20	18541310	18541310	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr20:18541310A>C	ENST00000336714.3	+	20	2662	c.2230A>C	c.(2230-2232)Atc>Ctc	p.I744L	SEC23B_ENST00000377475.3_Missense_Mutation_p.I744L|SEC23B_ENST00000262544.2_Missense_Mutation_p.I744L|SEC23B_ENST00000377465.1_Missense_Mutation_p.I744L	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	744					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TGGAGCACCCATCCTAACTGA	0.438																																																0			20											146	131	136					20																	18541310		2203	4300	6503	18489310	SO:0001583	missense	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.2230A>C	20.37:g.18541310A>C	ENSP00000338844:p.Ile744Leu		18489310	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601270	0.66445	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.91459	0.7304	L	0.59912	1.85	0.80722	D	1	B;B	0.20671	0.047;0.023	B;B	0.21708	0.036;0.016	D	0.89657	0.3874	10	0.59425	D	0.04	-20.3085	13.8974	0.63781	1.0:0.0:0.0:0.0	.	726;744	B4DJW8;Q15437	.;SC23B_HUMAN	L	744;744;744;744;223	ENSP00000338844:I744L;ENSP00000262544:I744L;ENSP00000366695:I744L;ENSP00000366685:I744L;ENSP00000409882:I223L	ENSP00000262544:I744L	I	+	1	0	SEC23B	18489310	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.057000	0.93889	2.121000	0.65114	0.533000	0.62120	ATC		0.438	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			C	18541310	A	C	18541310	3	2	263	1	0	0	0	0	1	0	0	0	13995	217	8	5	2304	5	SEC23B	20	18541310	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	16580281	18541310	44484210	70	14773											
RALGAPA2	57186	genome.wustl.edu	37	20	20486158	20486158	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr20:20486158G>A	ENST00000202677.7	-	34	4956	c.4949C>T	c.(4948-4950)gCa>gTa	p.A1650V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1650	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTAAAACACTGCGATTTTGTG	0.348																																																0			20											91	79	83					20																	20486158		1869	4114	5983	20434158	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4949C>T	20.37:g.20486158G>A	ENSP00000202677:p.Ala1650Val		20434158	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.467366|5.467366	0.96257|0.96257	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000417022;ENST00000202677|ENST00000430436;ENST00000427175	D;D|.	0.94232|.	-3.38;-3.38|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Rap/ran-GAP (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87152|.	0.6106|.	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	D|.	0.88999|.	0.3420|.	10|.	0.87932|.	D|.	0|.	.|.	20.4238|20.4238	0.99064|0.99064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1488;1650;1650|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	V|X	80;1650|1467;61	ENSP00000408332:A80V;ENSP00000202677:A1650V|.	ENSP00000202677:A1650V|.	A|Q	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20434158|20434158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.764000|9.764000	0.98949|0.98949	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.348	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		A	20486158	G	A	20486158	3	1	263	1	0	0	0	0	1	0	0	0	13017	1319	46	2	696	2	RALGAPA2	20	20486158	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	1944848	20486158	42539362	71	14774											
NFS1	9054	genome.wustl.edu	37	20	34262982	34262982	+	Silent	SNP	T	T	G	rs374989904		TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr20:34262982T>G	ENST00000374092.4	-	8	1003	c.933A>C	c.(931-933)gcA>gcC	p.A311A	NFS1_ENST00000374085.1_Silent_p.A251A|NFS1_ENST00000540053.1_Silent_p.A109A|RP1-309K20.6_ENST00000541176.2_5'Flank|NFS1_ENST00000498084.1_5'Flank|NFS1_ENST00000541387.1_Silent_p.A260A|NFS1_ENST00000397425.1_Silent_p.A251A	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	311					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	TCTCTTGCTGTGCCACCTCAC	0.617																																																0			20											66	66	66					20																	34262982		2203	4300	6503	33726396	SO:0001819	synonymous_variant	9054			AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"nitrogen fixation 1 (S. cerevisiae, homolog)", "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.933A>C	20.37:g.34262982T>G			33726396	B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Silent	SNP	ENST00000374092.4	37	CCDS13262.1																																																																																				0.617	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		G	34262982	T	G	34262982	2	3	263	1	0	0	0	0	0	0	0	1	10385	1683	59	5		5	NFS1	20	34262982	Silent	SNP	T	TCGA-24-1847-01A-01W-0633-09	13776824	34262982	28762538	72	14775											
SEMG2	6407	genome.wustl.edu	37	20	43850940	43850940	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr20:43850940G>C	ENST00000372769.3	+	2	757	c.667G>C	c.(667-669)Gtg>Ctg	p.V223L		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	223	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TTACCAAAATGTGGTTGACGT	0.378																																																0			20											113	105	108					20																	43850940		2203	4300	6503	43284354	SO:0001583	missense	6407				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.667G>C	20.37:g.43850940G>C	ENSP00000361855:p.Val223Leu		43284354	Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595478	0.28445	.	.	ENSG00000124157	ENST00000372769	T	0.12039	2.72	1.38	0.256	0.15567	.	.	.	.	.	T	0.19967	0.0480	M	0.68593	2.085	0.09310	N	1	P;D;D	0.57571	0.908;0.98;0.98	P;P;P	0.51415	0.519;0.669;0.669	T	0.11591	-1.0581	9	0.59425	D	0.04	.	4.4245	0.11497	0.0:0.0:0.6153:0.3847	.	223;223;223	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	L	223	ENSP00000361855:V223L	ENSP00000361855:V223L	V	+	1	0	SEMG2	43284354	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.459000	0.06728	0.089000	0.17243	0.655000	0.94253	GTG		0.378	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		C	43850940	G	C	43850940	3	2	263	1	0	0	0	0	1	0	0	0	14048	1377	48	3	673	3	SEMG2	20	43850940	Missense_Mutation	SNP	G	TCGA-24-1847-01A-01W-0633-09	9587958	43850940	19174580	73	14776											
GTPBP5	26164	genome.wustl.edu	37	20	60775755	60775755	+	Silent	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chr20:60775755C>T	ENST00000370823.3	+	7	861	c.843C>T	c.(841-843)ggC>ggT	p.G281G	MTG2_ENST00000436421.2_Silent_p.G123G|MTG2_ENST00000536470.1_Silent_p.G53G	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	281	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										ACATCCCCGGCATCATACGAG	0.632																																																0			20											61	66	65					20																	60775755		2203	4299	6502	60209150	SO:0001819	synonymous_variant	26164			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.843C>T	20.37:g.60775755C>T			60209150	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	CCDS13492.1																																																																																				0.632	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		T	60775755	C	T	60775755	2	4	263	1	0	0	0	0	0	0	0	1	6883	697	25	2		2	GTPBP5	20	60775755	Silent	SNP	C	TCGA-24-1847-01A-01W-0633-09	16924815	60775755	2249765	74	14777											
ATXN3L	92552	genome.wustl.edu	37	X	13337978	13337978	+	Missense_Mutation	SNP	C	C	G	rs201381068		TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chrX:13337978C>G	ENST00000380622.2	-	1	540	c.76G>C	c.(76-78)Gaa>Caa	p.E26Q	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	26	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTAAAATATTCTCCTTGCAAT	0.418																																																0			X											104	87	92					X																	13337978		1568	3582	5150	13247899	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.76G>C	X.37:g.13337978C>G	ENSP00000369996:p.Glu26Gln		13247899	B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683593	0.29872	.	.	ENSG00000123594	ENST00000380622	T	0.45668	0.89	0.943	0.943	0.19531	.	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	L	0.38175	1.15	0.41583	D	0.988757	P	0.35401	0.499	B	0.38500	0.275	T	0.12372	-1.0550	10	0.54805	T	0.06	.	7.4471	0.27217	0.0:1.0:0.0:0.0	.	26	Q9H3M9	ATX3L_HUMAN	Q	26	ENSP00000369996:E26Q	ENSP00000369996:E26Q	E	-	1	0	ATXN3L	13247899	1.000000	0.71417	0.067000	0.19924	0.053000	0.15095	4.824000	0.62701	0.740000	0.32651	0.422000	0.28245	GAA		0.418	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		G	13337978	C	G	13337978	3	3	263	1	0	0	0	0	1	0	0	0	1214	922	32	3	995	3	ATXN3L	23	13337978	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09		13337978	141932582	75	14778											
MAGEB4	4115	genome.wustl.edu	37	X	30261146	30261146	+	Silent	SNP	T	T	C			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chrX:30261146T>C	ENST00000378982.2	+	1	1090	c.894T>C	c.(892-894)aaT>aaC	p.N298N	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	298	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCACCCCCAATAACTTCCCAC	0.527																																																0			X											67	66	67					X																	30261146		2202	4300	6502	30171067	SO:0001819	synonymous_variant	4115				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.894T>C	X.37:g.30261146T>C			30171067	B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	ENST00000378982.2	37	CCDS14221.1																																																																																				0.527	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		C	30261146	T	C	30261146	2	2	263	1	0	0	0	0	0	0	0	1	9178	1403	49	4		4	MAGEB4	23	30261146	Silent	SNP	T	TCGA-24-1847-01A-01W-0633-09	16923168	30261146	125009414	76	14779											
FAM47A	158724	genome.wustl.edu	37	X	34148800	34148800	+	Silent	SNP	C	C	T	rs372096171		TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chrX:34148800C>T	ENST00000346193.3	-	1	1647	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	532										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGGACCGAGAC	0.657																																																0			X						C		0,3825		0,0,1627,571	42	48	46		1596	-0.3	0	X		46	1,6719		0,1,2425,1868	no	coding-synonymous	FAM47A	NM_203408.3		0,1,4052,2439	TT,TC,CC,C		0.0149,0.0,0.0095		532/792	34148800	1,10544	2198	4294	6492	34058721	SO:0001819	synonymous_variant	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1596G>A	X.37:g.34148800C>T			34058721	A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	CCDS43926.1																																																																																				0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34148800	C	T	34148800	2	4	263	1	0	0	0	0	0	0	0	1	5569	639	23	1		1	FAM47A	23	34148800	Silent	SNP	C	TCGA-24-1847-01A-01W-0633-09	3887654	34148800	121121760	77	14780											
CACNA1F	778	genome.wustl.edu	37	X	49075818	49075818	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chrX:49075818C>T	ENST00000376265.2	-	21	2729	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T	CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A879T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A825T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	890					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGTCCTCAGCGGCCAGGGAC	0.597													c|||	1	0.000264901	0	0.0014	3775	,	,		14672	0		0	False		,,,				2504	0															0			X											74	60	65					X																	49075818		2203	4300	6503	48962762	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2668G>A	X.37:g.49075818C>T	ENSP00000365441:p.Ala890Thr		48962762	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.172312	0.78452	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97505	-4.41;-4.41;-4.41	4.95	4.95	0.65309	.	0.347783	0.32459	N	0.006071	D	0.98466	0.9489	M	0.84773	2.715	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.97	D	0.99675	1.0997	10	0.87932	D	0	.	15.9731	0.80036	0.0:1.0:0.0:0.0	.	879;890	F5CIQ9;O60840	.;CAC1F_HUMAN	T	825;879;890	ENSP00000365427:A825T;ENSP00000321618:A879T;ENSP00000365441:A890T	ENSP00000321618:A879T	A	-	1	0	CACNA1F	48962762	1.000000	0.71417	0.946000	0.38457	0.331000	0.28603	5.901000	0.69861	2.286000	0.76751	0.500000	0.49745	GCT		0.597	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		T	49075818	C	T	49075818	3	4	263	1	0	0	0	0	1	0	0	0	2543	768	27	1	3377	1	CACNA1F	23	49075818	Missense_Mutation	SNP	C	TCGA-24-1847-01A-01W-0633-09	14927018	49075818	106194742	78	14781											
SHROOM4	57477	genome.wustl.edu	37	X	50381261	50381261	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chrX:50381261A>T	ENST00000289292.7	-	3	600	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	SHROOM4_ENST00000460112.3_5'UTR|SHROOM4_ENST00000376020.2_Missense_Mutation_p.L106Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	106					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCCTCCAGCAGCTTGGCCAC	0.562																																																0			X											90	58	69					X																	50381261		2203	4300	6503	50398001	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.317T>A	X.37:g.50381261A>T	ENSP00000289292:p.Leu106Gln		50398001	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.200488	0.38905	.	.	ENSG00000158352	ENST00000289292;ENST00000376020	T;T	0.13196	2.61;2.61	5.17	4.01	0.46588	.	0.105878	0.40144	N	0.001171	T	0.29223	0.0727	M	0.66939	2.045	0.42420	D	0.992635	D	0.64830	0.994	P	0.61397	0.888	T	0.01488	-1.1342	10	0.72032	D	0.01	.	9.1876	0.37180	0.911:0.0:0.089:0.0	.	106	Q9ULL8	SHRM4_HUMAN	Q	106	ENSP00000289292:L106Q;ENSP00000365188:L106Q	ENSP00000289292:L106Q	L	-	2	0	SHROOM4	50398001	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	5.562000	0.67346	0.629000	0.30376	-0.314000	0.08810	CTG		0.562	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		T	50381261	A	T	50381261	3	4	263	1	0	0	0	0	1	0	0	0	14299	188	7	5	4192	5	SHROOM4	23	50381261	Missense_Mutation	SNP	A	TCGA-24-1847-01A-01W-0633-09	1305443	50381261	104889299	79	14782											
MAGEC1	9947	genome.wustl.edu	37	X	140996466	140996466	+	Silent	SNP	G	G	A			TCGA-24-1847-01A-01W-0633-09	TCGA-24-1847-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	57a6aa0e-360f-4715-aa71-64ac651cdd40	b78b51da-368f-4bbd-8c53-6fd874b4fc13	g.chrX:140996466G>A	ENST00000285879.4	+	4	3562	c.3276G>A	c.(3274-3276)aaG>aaA	p.K1092K	MAGEC1_ENST00000406005.2_Silent_p.K159K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1092	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGCTAAAGAATACCGTCC	0.453										HNSCC(15;0.026)																																						0			X											149	136	140					X																	140996466		2203	4300	6503	140824132	SO:0001819	synonymous_variant	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3276G>A	X.37:g.140996466G>A			140824132	A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	CCDS35417.1																																																																																				0.453	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140996466	G	A	140996466	2	1	263	1	0	0	0	0	0	0	0	1	9180	933	33	2		2	MAGEC1	23	140996466	Silent	SNP	G	TCGA-24-1847-01A-01W-0633-09	90615205	140996466	14274094	80	14783											
TAS1R2	80834	genome.wustl.edu	37	1	19166641	19166641	+	Missense_Mutation	SNP	C	C	T	rs145202761		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:19166641C>T	ENST00000375371.3	-	6	1993	c.1972G>A	c.(1972-1974)Gcc>Acc	p.A658T		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	658					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATCTTGAAGGCGCAGACGATC	0.587																																																0			1						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	127	131	130		1972	-5.7	0	1	dbSNP_134	130	0,8600		0,0,4300	yes	missense	TAS1R2	NM_152232.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	658/840	19166641	1,13005	2203	4300	6503	19039228	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1972G>A	1.37:g.19166641C>T	ENSP00000364520:p.Ala658Thr		19039228	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.614029	0.28712	2.27E-4	0.0	ENSG00000179002	ENST00000375371	D	0.89196	-2.48	5.22	-5.66	0.02451	GPCR, family 3, C-terminal (2);	0.643178	0.13516	N	0.382070	T	0.80476	0.4630	L	0.29908	0.895	0.09310	N	1	B	0.27316	0.175	B	0.27608	0.081	T	0.65417	-0.6173	10	0.66056	D	0.02	.	13.4935	0.61411	0.0:0.3069:0.0:0.6931	.	658	Q8TE23	TS1R2_HUMAN	T	658	ENSP00000364520:A658T	ENSP00000364520:A658T	A	-	1	0	TAS1R2	19039228	0.000000	0.05858	0.012000	0.15200	0.155000	0.21991	-1.792000	0.01756	-1.060000	0.03189	0.561000	0.74099	GCC		0.587	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19166641	C	T	19166641	3	4	264	1	0	0	0	0	1	0	0	0	15563	768	27	1	551	1	TAS1R2	1	19166641	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09		19166641	230083980	1	14784											
L1TD1	54596	genome.wustl.edu	37	1	62672604	62672604	+	Frame_Shift_Del	DEL	T	T	-			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:62672604delT	ENST00000498273.1	+	3	599	c.304delT	c.(304-306)tttfs	p.F102fs		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	102										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TAGGACagagtttcagcaaat	0.343																																																0			1											57	66	63					1																	62672604		2172	4286	6458	62445192	SO:0001589	frameshift_variant	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.304delT	1.37:g.62672604delT	ENSP00000419901:p.Phe102fs		62445192	Q8NDA1|Q9NUV8|Q9NV78	Frame_Shift_Del	DEL	ENST00000498273.1	37	CCDS619.1																																																																																				0.343	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		-	62672604	T	-	62672604	7	5	264	1	0	1	0	1	0	0	0	0	8589	1725	60	0	306	0	L1TD1	1	62672604	Frame_Shift_Del	DEL	T	TCGA-24-1849-01A-01W-0639-09	43505963	62672604	186578017	2	14785											
CTH	1491	genome.wustl.edu	37	1	70899604	70899604	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:70899604A>G	ENST00000370938.3	+	9	1115	c.971A>G	c.(970-972)cAt>cGt	p.H324R	CTH_ENST00000346806.2_Missense_Mutation_p.H280R|CTH_ENST00000411986.2_Missense_Mutation_p.H292R	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACTCTTCAGCATGCTGAGATT	0.428																																																0			1											104	89	94					1																	70899604		2203	4300	6503	70672192	SO:0001583	missense	1491			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.971A>G	1.37:g.70899604A>G	ENSP00000359976:p.His324Arg		70672192	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	CCDS650.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459222	0.43634	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.81739	-1.53;-1.53;-1.53	5.03	5.03	0.67393	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.161361	0.56097	D	0.000037	T	0.46580	0.1400	N	0.04636	-0.2	0.80722	D	1	B;B;P	0.40083	0.409;0.217;0.702	B;B;B	0.36030	0.216;0.138;0.178	T	0.57745	-0.7758	10	0.25106	T	0.35	-9.6744	14.7812	0.69769	1.0:0.0:0.0:0.0	.	292;280;324	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	R	292;324;280	ENSP00000413407:H292R;ENSP00000359976:H324R;ENSP00000311554:H280R	ENSP00000311554:H280R	H	+	2	0	CTH	70672192	1.000000	0.71417	0.979000	0.43373	0.899000	0.52679	9.117000	0.94347	2.042000	0.60477	0.529000	0.55759	CAT		0.428	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		G	70899604	A	G	70899604	3	3	264	1	0	0	0	0	1	0	0	0	4009	217	8	4	1005	4	CTH	1	70899604	Missense_Mutation	SNP	A	TCGA-24-1849-01A-01W-0639-09	8227000	70899604	178351017	3	14786											
MSH4	4438	genome.wustl.edu	37	1	76288233	76288233	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:76288233C>G	ENST00000263187.3	+	7	1233	c.1129C>G	c.(1129-1131)Caa>Gaa	p.Q377E		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	377					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAACTACTTCAAGATGAGGA	0.294								Mismatch excision repair (MMR)																																								0			1											71	74	73					1																	76288233		2203	4293	6496	76060821	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1129C>G	1.37:g.76288233C>G	ENSP00000263187:p.Gln377Glu		76060821	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347806	0.24426	.	.	ENSG00000057468	ENST00000263187	D	0.89939	-2.59	5.84	5.84	0.93424	DNA mismatch repair protein MutS, core (3);	0.287214	0.35585	N	0.003113	T	0.74245	0.3691	N	0.16602	0.42	0.41931	D	0.990566	B	0.02656	0.0	B	0.06405	0.002	T	0.68823	-0.5307	10	0.20519	T	0.43	-4.3838	20.1535	0.98095	0.0:1.0:0.0:0.0	.	377	O15457	MSH4_HUMAN	E	377	ENSP00000263187:Q377E	ENSP00000263187:Q377E	Q	+	1	0	MSH4	76060821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.638000	0.54332	2.764000	0.94973	0.650000	0.86243	CAA		0.294	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		G	76288233	C	G	76288233	3	3	264	1	0	0	0	0	1	0	0	0	9872	827	29	3	1155	3	MSH4	1	76288233	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	5388629	76288233	172962388	4	14787											
BRDT	676	genome.wustl.edu	37	1	92445146	92445146	+	Missense_Mutation	SNP	T	T	G	rs373509947		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:92445146T>G	ENST00000362005.3	+	9	1537	c.1119T>G	c.(1117-1119)ttT>ttG	p.F373L	BRDT_ENST00000370389.2_Missense_Mutation_p.F300L|BRDT_ENST00000394530.3_Missense_Mutation_p.F327L|BRDT_ENST00000402388.1_Missense_Mutation_p.F373L|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.F373L	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	373					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAACGCATTTTTCAAAGATCC	0.333																																																0			1						T	LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE	0,4406		0,0,2203	84	85	85		1119,1131,981,981,900,1119,1119	5.7	1	1		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	BRDT	NM_001242805.1,NM_001242806.1,NM_001242807.1,NM_001242808.1,NM_001242810.1,NM_001726.3,NM_207189.2	22,22,22,22,22,22,22	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	373/948,377/952,327/902,327/902,300/875,373/948,373/948	92445146	1,13005	2203	4300	6503	92217734	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1119T>G	1.37:g.92445146T>G	ENSP00000354568:p.Phe373Leu		92217734	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196389	0.78902	0.0	1.16E-4	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4	5.65	5.65	0.86999	Bromodomain (3);	0.000000	0.64402	D	0.000001	T	0.32224	0.0822	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.983;1.0	D;D;P;D	0.80764	0.994;0.994;0.761;0.994	T	0.09314	-1.0680	10	0.87932	D	0	-21.6547	15.8689	0.79091	0.0:0.0:0.0:1.0	.	327;327;377;373	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	L	373;300;373;373;327;373;373	ENSP00000354568:F373L;ENSP00000359416:F300L;ENSP00000387822:F373L;ENSP00000378038:F327L;ENSP00000404969:F373L;ENSP00000384051:F373L	ENSP00000354568:F373L	F	+	3	2	BRDT	92217734	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	4.734000	0.62043	2.150000	0.67090	0.533000	0.62120	TTT		0.333	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		G	92445146	T	G	92445146	3	3	264	1	0	0	0	0	1	0	0	0	1508	1838	64	5	1145	5	BRDT	1	92445146	Missense_Mutation	SNP	T	TCGA-24-1849-01A-01W-0639-09	16156913	92445146	156805475	5	14788											
MTF2	22823	genome.wustl.edu	37	1	93586126	93586126	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:93586126G>C	ENST00000370298.4	+	9	1107	c.818G>C	c.(817-819)tGc>tCc	p.C273S	MTF2_ENST00000370303.4_Missense_Mutation_p.C273S|MTF2_ENST00000545708.1_Missense_Mutation_p.C171S|MTF2_ENST00000540243.1_Missense_Mutation_p.C171S|MTF2_ENST00000471953.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	273					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GCACACCTATGCCTTTACAAC	0.328																																																0			1											139	140	140					1																	93586126		2203	4300	6503	93358714	SO:0001583	missense	22823			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.818G>C	1.37:g.93586126G>C	ENSP00000359321:p.Cys273Ser		93358714	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608200	0.46527	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.69	5.69	0.88448	.	0.043336	0.85682	D	0.000000	T	0.02533	0.0077	N	0.00368	-1.59	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.46345	-0.9198	10	0.39692	T	0.17	-3.3918	20.181	0.98201	0.0:0.0:1.0:0.0	.	273;273	B1AKT6;Q9Y483	.;MTF2_HUMAN	S	171;171;273;171;273	ENSP00000444962:C171S;ENSP00000443295:C171S;ENSP00000359321:C273S;ENSP00000359326:C273S	ENSP00000359321:C273S	C	+	2	0	MTF2	93358714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.717000	0.84732	2.840000	0.97914	0.655000	0.94253	TGC		0.328	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		C	93586126	G	C	93586126	3	2	264	1	0	0	0	0	1	0	0	0	9923	1319	46	3	852	3	MTF2	1	93586126	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	1140980	93586126	155664495	6	14789											
FCRL5	83416	genome.wustl.edu	37	1	157488273	157488273	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:157488273C>G	ENST00000361835.3	-	15	2915	c.2758G>C	c.(2758-2760)Gaa>Caa	p.E920Q	FCRL5_ENST00000356953.4_Missense_Mutation_p.E920Q|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	920					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCACATTTTCTCCTCTAGGA	0.448																																																0			1											192	183	186					1																	157488273		2203	4300	6503	155754897	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2758G>C	1.37:g.157488273C>G	ENSP00000354691:p.Glu920Gln		155754897	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373654	0.24857	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.47869	0.83;0.84	5.04	-0.316	0.12743	.	7739.210000	0.00166	N	0.000000	T	0.15305	0.0369	.	.	.	0.09310	N	1	P	0.38978	0.652	B	0.36504	0.226	T	0.08166	-1.0735	9	0.27785	T	0.31	.	7.7375	0.28823	0.0:0.4947:0.0:0.5053	.	920	Q96RD9	FCRL5_HUMAN	Q	920	ENSP00000354691:E920Q;ENSP00000349434:E920Q	ENSP00000349434:E920Q	E	-	1	0	FCRL5	155754897	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.341000	0.07811	0.016000	0.14998	0.655000	0.94253	GAA		0.448	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		G	157488273	C	G	157488273	3	3	264	1	0	0	0	0	1	0	0	0	5798	922	32	3	187	3	FCRL5	1	157488273	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	63902147	157488273	91762348	7	14790											
CR1L	1379	genome.wustl.edu	37	1	207881609	207881609	+	Splice_Site	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:207881609G>C	ENST00000508064.2	+	10	1474		c.e10+1		CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATTTGTCAACGtgagttgaaa	0.443																																																0			1											242	230	234					1																	207881609		1898	4112	6010	205948232	SO:0001630	splice_region_variant	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1414+1G>C	1.37:g.207881609G>C			205948232	Q32MC9|Q8NEU7	Splice_Site	SNP	ENST00000508064.2	37	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	g	9.369	1.070107	0.20147	.	.	ENSG00000197721	ENST00000508064	.	.	.	1.67	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.43110	D	0.994812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8536	0.24028	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CR1L	205948232	0.573000	0.26676	0.299000	0.25016	0.206000	0.24218	1.630000	0.37081	1.251000	0.43983	0.298000	0.19748	.		0.443	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	Intron	C	207881609	G	C	207881609	5	2	264	1	0	0	0	0	0	0	1	0	3841	1159	40	3	1453	3	CR1L	1	207881609	Splice_Site	SNP	G	TCGA-24-1849-01A-01W-0639-09	50393336	207881609	41369012	8	14791											
PCNXL2	80003	genome.wustl.edu	37	1	233122043	233122043	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:233122043C>T	ENST00000258229.9	-	33	6269	c.6035G>A	c.(6034-6036)cGg>cAg	p.R2012Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R664Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2012	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CGCCTCGGCCCGCTCACGGAC	0.682																																																0			1											9	12	11					1																	233122043		2020	4135	6155	231188666	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.6035G>A	1.37:g.233122043C>T	ENSP00000258229:p.Arg2012Gln		231188666	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860748	0.32884	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.22539	1.95;3.08	5.71	3.81	0.43845	.	0.236172	0.35235	N	0.003358	T	0.13243	0.0321	L	0.29908	0.895	0.80722	D	1	B;B	0.21452	0.056;0.03	B;B	0.08055	0.003;0.003	T	0.09840	-1.0656	10	0.15066	T	0.55	.	9.8242	0.40901	0.0:0.7882:0.0:0.2118	.	2012;664	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	Q	664;2012	ENSP00000340759:R664Q;ENSP00000258229:R2012Q	ENSP00000258229:R2012Q	R	-	2	0	PCNXL2	231188666	0.518000	0.26234	0.997000	0.53966	0.639000	0.38242	0.849000	0.27723	0.735000	0.32537	0.561000	0.74099	CGG		0.682	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		T	233122043	C	T	233122043	3	4	264	1	0	0	0	0	1	0	0	0	11592	652	23	1	386	1	PCNXL2	1	233122043	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	25240434	233122043	16128578	9	14792											
CHRM3	1131	genome.wustl.edu	37	1	240071315	240071315	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:240071315G>C	ENST00000255380.4	+	5	1343	c.564G>C	c.(562-564)atG>atC	p.M188I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	188					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCGGTGTGATGATCGGTCTGG	0.502																																																0			1											191	195	194					1																	240071315		2203	4300	6503	238137938	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.564G>C	1.37:g.240071315G>C	ENSP00000255380:p.Met188Ile		238137938	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407683	0.83340	.	.	ENSG00000133019	ENST00000255380	T	0.35605	1.3	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	L	0.43757	1.38	0.80722	D	1	D	0.65815	0.995	D	0.70227	0.968	T	0.53308	-0.8457	10	0.72032	D	0.01	-30.8099	20.2789	0.98501	0.0:0.0:1.0:0.0	.	188	P20309	ACM3_HUMAN	I	188	ENSP00000255380:M188I	ENSP00000255380:M188I	M	+	3	0	CHRM3	238137938	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	ATG		0.502	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		C	240071315	G	C	240071315	3	2	264	1	0	0	0	0	1	0	0	0	3378	1290	45	3	566	3	CHRM3	1	240071315	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	6949272	240071315	9179306	10	14793											
C1orf101	257044	genome.wustl.edu	37	1	244641231	244641231	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:244641231G>T	ENST00000366534.4	+	4	266	c.212G>T	c.(211-213)tGt>tTt	p.C71F	C1orf101_ENST00000366533.4_Missense_Mutation_p.C71F|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_5'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	71						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GAATTGCGTTGTTCCTCACCT	0.323																																																0			1											135	126	129					1																	244641231		2203	4300	6503	242707854	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.212G>T	1.37:g.244641231G>T	ENSP00000355492:p.Cys71Phe		242707854	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683222	0.47991	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042	T;T;T	0.63096	0.42;0.41;-0.02	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000019	T	0.73385	0.3580	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75204	-0.3400	10	0.87932	D	0	.	12.64	0.56705	0.0:0.0:1.0:0.0	.	61;71;71	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	F	71;71;71;61	ENSP00000355492:C71F;ENSP00000355491:C71F;ENSP00000395796:C61F	ENSP00000355491:C71F	C	+	2	0	C1orf101	242707854	0.868000	0.29978	0.130000	0.21974	0.127000	0.20565	3.658000	0.54482	2.689000	0.91719	0.591000	0.81541	TGT		0.323	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		T	244641231	G	T	244641231	3	4	264	1	0	0	0	0	1	0	0	0	1976	1377	48	3	226	3	C1orf101	1	244641231	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	4569916	244641231	4609390	11	14794											
DYSF	8291	genome.wustl.edu	37	2	71742846	71742846	+	Missense_Mutation	SNP	C	C	T	rs149827237		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:71742846C>T	ENST00000258104.3	+	7	1034	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	DYSF_ENST00000409762.1_Missense_Mutation_p.R284W|DYSF_ENST00000409744.1_Missense_Mutation_p.R254W|DYSF_ENST00000413539.2_Missense_Mutation_p.R284W|DYSF_ENST00000410020.3_Missense_Mutation_p.R285W|DYSF_ENST00000429174.2_Missense_Mutation_p.R253W|DYSF_ENST00000409651.1_Missense_Mutation_p.R285W|DYSF_ENST00000410041.1_Missense_Mutation_p.R285W|DYSF_ENST00000409582.3_Missense_Mutation_p.R284W|DYSF_ENST00000409366.1_Missense_Mutation_p.R254W|DYSF_ENST00000394120.2_Missense_Mutation_p.R254W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	253	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.		R -> W (in isolated hyperCKemia). {ECO:0000269|PubMed:16010686, ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAAGCGGACGCGGATCCACAA	0.607													C|||	1	0.000199681	0	0	5008	,	,		16595	0		0.001	False		,,,				2504	0															0			2	GRCh37	CM053209	DYSF	M	rs149827237	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	98	93	95		760,757,757,757,850,850,850,853,760,760,853,760,853,757	4	1	2	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	101,101,101,101,101,101,101,101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	254/2082,253/2067,253/2088,253/2102,284/2112,284/2098,284/2119,285/2113,254/2103,254/2089,285/2099,254/2068,285/2120,253/2081	71742846	1,13005	2203	4300	6503	71596354	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.757C>T	2.37:g.71742846C>T	ENSP00000258104:p.Arg253Trp		71596354	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435372	0.62955	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.0	3.99	0.46301	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.92169	3.28	0.46542	D	0.99909	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0	D	0.88691	0.3209	10	0.87932	D	0	-28.3	11.9299	0.52841	0.2107:0.7892:0.0:0.0	.	285;285;254;254;285;254;284;253;284;284;253;253;254;253	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	284;284;284;253;253;285;254;254;254;285;285	ENSP00000407046:R284W;ENSP00000387137:R284W;ENSP00000386547:R284W;ENSP00000398305:R253W;ENSP00000258104:R253W;ENSP00000386683:R285W;ENSP00000377678:R254W;ENSP00000386285:R254W;ENSP00000386512:R254W;ENSP00000386881:R285W;ENSP00000386617:R285W	ENSP00000258104:R253W	R	+	1	2	DYSF	71596354	0.602000	0.26916	0.959000	0.39883	0.372000	0.29890	1.203000	0.32284	2.475000	0.83589	0.549000	0.68633	CGG		0.607	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71742846	C	T	71742846	3	4	264	1	0	0	0	0	1	0	0	0	4859	759	27	1	975	1	DYSF	2	71742846	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09		71742846	171456527	12	14795											
ST3GAL5	8869	genome.wustl.edu	37	2	86067402	86067412	+	Frame_Shift_Del	DEL	GTAGTGCAAAG	GTAGTGCAAAG	-			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	GTAGTGCAAAG	GTAGTGCAAAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:86067402_86067412delGTAGTGCAAAG	ENST00000377332.3	-	7	1220_1230	c.1112_1122delCTTTGCACTAC	c.(1111-1122)cctttgcactacfs	p.PLHY371fs	ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.PLHY348fs|ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.PLHY343fs	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	371					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GACTGTCGAAGTAGTGCAAAGGTGTTCTGGG	0.474																																																0			2																																								85920923	SO:0001589	frameshift_variant	8869			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.1112_1122delCTTTGCACTAC	2.37:g.86067402_86067412delGTAGTGCAAAG	ENSP00000366549:p.Pro371fs		85920913	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Frame_Shift_Del	DEL	ENST00000377332.3	37	CCDS1986.2																																																																																				0.474	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		-	86067412	GTAGTGCAAAG	-	86067402	7	5	264	1	0	1	0	1	0	0	0	0	15220	1024	36	0	138	0	ST3GAL5	2	86067402	Frame_Shift_Del	DEL	GTAGTGCAAAG	TCGA-24-1849-01A-01W-0639-09	14324556	86067402	157131971	13	14796											
PLEKHB2	55041	genome.wustl.edu	37	2	131904268	131904268	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:131904268C>G	ENST00000403716.1	+	8	1151	c.591C>G	c.(589-591)aaC>aaG	p.N197K	PLEKHB2_ENST00000409158.1_Missense_Mutation_p.N205K|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.N196K|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.N149K|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.T161R|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.N197K|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.T153R|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.N197K	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	197						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ATCGAGACAACGACAGCGACC	0.527																																																0			2											174	179	177					2																	131904268		2203	4300	6503	131620738	SO:0001583	missense	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.591C>G	2.37:g.131904268C>G	ENSP00000385892:p.Asn197Lys		131620738	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	37	CCDS46413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.58|13.58	2.279698|2.279698	0.40294|0.40294	.|.	.|.	ENSG00000115762|ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000538982;ENST00000409612;ENST00000409279|ENST00000439822;ENST00000438882	.|.	.|.	.|.	5.59|5.59	-2.47|-2.47	0.06442|0.06442	.|.	.|.	.|.	.|.	.|.	T|T	0.52435|0.52435	0.1734|0.1734	L|L	0.60455|0.60455	1.87|1.87	0.37332|0.37332	D|D	0.910021|0.910021	B;B;B;B|P;P	0.33583|0.39847	0.22;0.327;0.22;0.418|0.691;0.662	B;B;B;B|B;B	0.35114|0.40741	0.096;0.196;0.096;0.096|0.339;0.174	T|T	0.55742|0.55742	-0.8093|-0.8093	8|8	0.59425|0.56958	D|D	0.04|0.05	.|.	11.99|11.99	0.53169|0.53169	0.0:0.3349:0.0:0.6651|0.0:0.3349:0.0:0.6651	.|.	196;196;197;205|153;161	Q53FF1;Q96CS7-3;Q96CS7;B8ZZN1|B4DZ66;B4DF08	.;.;PKHB2_HUMAN;.|.;.	K|R	205;197;196;149;197;197|153;161	.|.	ENSP00000234115:N196K|ENSP00000401193:T161R	N|T	+|+	3|2	2|0	PLEKHB2|PLEKHB2	131620738|131620738	0.045000|0.045000	0.20229|0.20229	0.037000|0.037000	0.18230|0.18230	0.900000|0.900000	0.52787|0.52787	-0.958000|-0.958000	0.03857|0.03857	-0.902000|-0.902000	0.03886|0.03886	-0.162000|-0.162000	0.13425|0.13425	AAC|ACG		0.527	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		G	131904268	C	G	131904268	3	3	264	1	0	0	0	0	1	0	0	0	12065	535	19	3	617	3	PLEKHB2	2	131904268	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	45836866	131904268	111295105	14	14797											
KCNH7	90134	genome.wustl.edu	37	2	163302643	163302643	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:163302643T>C	ENST00000332142.5	-	7	1538	c.1439A>G	c.(1438-1440)gAa>gGa	p.E480G	KCNH7_ENST00000328032.4_Missense_Mutation_p.E473G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	480					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACTTACCACTTCTTCATTCTG	0.353																																					GBM(196;1492 2208 17507 24132 45496)											0			2											127	114	118					2																	163302643		2203	4300	6503	163010889	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1439A>G	2.37:g.163302643T>C	ENSP00000331727:p.Glu480Gly		163010889	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607614	0.87157	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.95377	-3.69;-3.69	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.99	D	0.99612	1.0981	10	0.87932	D	0	.	15.9661	0.79970	0.0:0.0:0.0:1.0	.	473;480	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	G	480;473	ENSP00000331727:E480G;ENSP00000333781:E473G	ENSP00000333781:E473G	E	-	2	0	KCNH7	163010889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.182000	0.69389	0.528000	0.53228	GAA		0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		C	163302643	T	C	163302643	3	2	264	1	0	0	0	0	1	0	0	0	8037	1783	62	4	2257	4	KCNH7	2	163302643	Missense_Mutation	SNP	T	TCGA-24-1849-01A-01W-0639-09	31398375	163302643	79896730	15	14798											
FAM171B	165215	genome.wustl.edu	37	2	187559029	187559030	+	In_Frame_Ins	INS	-	-	CAGCAG	rs549897920|rs56669143	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:187559029_187559030insCAGCAG	ENST00000304698.5	+	1	332_333	c.129_130insCAGCAG	c.(130-132)cag>CAGCAGcag	p.44_44Q>QQQ	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	44	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCCTCATCcaacagcagcagca	0.644														865	0.172724	0.1831	0.2219	5008	,	,		13517	0.0675		0.2137	False		,,,				2504	0.1902															0			2																																								187267275	SO:0001652	inframe_insertion	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.142_147dupCAGCAG	2.37:g.187559030_187559035dupCAGCAG	ENSP00000304108:p.GlnGln56dup		187267274	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	In_Frame_Ins	INS	ENST00000304698.5	37	CCDS33347.1																																																																																				0.644	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		CAGCAG	187559030	-	CAGCAG	187559029	7	5	264	1	0	1	1	0	0	0	0	0	5491	40	2	0	131	0	FAM171B	2	187559029	In_Frame_Ins	INS	-	TCGA-24-1849-01A-01W-0639-09	24256386	187559029	55640344	16	14799											
PLCL1	5334	genome.wustl.edu	37	2	198949278	198949278	+	Missense_Mutation	SNP	C	C	T	rs373797233		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:198949278C>T	ENST00000428675.1	+	2	1435	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	PLCL1_ENST00000437704.2_Missense_Mutation_p.T248I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	346					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T248I(1)|p.T346I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAGGAGTCACCCATATCACC	0.393																																																2	Substitution - Missense(2)	urinary_tract(2)	2						C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	93	90	91		1037	4.1	1	2		91	0,8600		0,0,4300	no	missense	PLCL1	NM_006226.3	89	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	346/1096	198949278	1,13005	2203	4300	6503	198657523	SO:0001583	missense	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1037C>T	2.37:g.198949278C>T	ENSP00000402861:p.Thr346Ile		198657523	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334098	0.24253	2.27E-4	0.0	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.44482	0.92;0.92	5.94	4.1	0.47936	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.583104	0.18381	N	0.142943	T	0.41627	0.1167	L	0.52573	1.65	0.44798	D	0.997804	B;B	0.22604	0.072;0.03	B;B	0.29353	0.101;0.101	T	0.14811	-1.0459	9	.	.	.	.	16.3285	0.82997	0.0:0.7322:0.2678:0.0	.	346;272	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	346;248	ENSP00000402861:T346I;ENSP00000414138:T248I	.	T	+	2	0	PLCL1	198657523	0.997000	0.39634	0.992000	0.48379	0.960000	0.62799	4.086000	0.57664	0.800000	0.34041	0.561000	0.74099	ACC		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		T	198949278	C	T	198949278	3	4	264	1	0	0	0	0	1	0	0	0	12039	507	18	2	1043	2	PLCL1	2	198949278	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	11390249	198949278	44250095	17	14800											
SGOL2	151246	genome.wustl.edu	37	2	201399819	201399819	+	Silent	SNP	A	A	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:201399819A>G	ENST00000357799.4	+	3	332	c.234A>G	c.(232-234)gaA>gaG	p.E78E	SGOL2_ENST00000409203.3_Silent_p.E78E	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	78					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTACAACTGAAAAGATGCTAT	0.308																																																0			2											66	61	62					2																	201399819		1802	4064	5866	201108064	SO:0001819	synonymous_variant	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.234A>G	2.37:g.201399819A>G			201108064	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	CCDS42796.1																																																																																				0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		G	201399819	A	G	201399819	2	3	264	1	0	0	0	0	0	0	0	1	14220	11	1	4		4	SGOL2	2	201399819	Silent	SNP	A	TCGA-24-1849-01A-01W-0639-09	2450541	201399819	41799554	18	14801											
SATB1	6304	genome.wustl.edu	37	3	18390872	18390872	+	Silent	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:18390872C>T	ENST00000338745.6	-	11	3816	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	SATB1_ENST00000417717.2_Silent_p.Q726Q|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.Q694Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	694					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACCGCTGGTTCTGAAAGAACT	0.498																																																0			3											193	191	191					3																	18390872		2203	4300	6503	18365876	SO:0001819	synonymous_variant	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.2082G>A	3.37:g.18390872C>T			18365876	B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	CCDS2631.1																																																																																				0.498	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		T	18390872	C	T	18390872	2	4	264	1	0	0	0	0	0	0	0	1	13856	912	32	2		2	SATB1	3	18390872	Silent	SNP	C	TCGA-24-1849-01A-01W-0639-09		18390872	179631558	19	14802											
SATB1	6304	genome.wustl.edu	37	3	18390994	18390994	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:18390994C>T	ENST00000338745.6	-	11	3694	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	SATB1_ENST00000417717.2_Missense_Mutation_p.E686K|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.E654K	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	654					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCAAGGCTTCCACTGAAATT	0.577																																																0			3											83	84	84					3																	18390994		2203	4300	6503	18365998	SO:0001583	missense	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1960G>A	3.37:g.18390994C>T	ENSP00000341024:p.Glu654Lys		18365998	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227420	0.79576	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	D;D;D	0.96587	-4.06;-4.06;-4.06	5.08	5.08	0.68730	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.171570	0.53938	D	0.000050	D	0.96852	0.8972	L	0.32530	0.975	0.80722	D	1	P;D	0.89917	0.669;1.0	B;D	0.91635	0.423;0.999	D	0.97994	1.0356	10	0.72032	D	0.01	-8.7005	18.4734	0.90782	0.0:1.0:0.0:0.0	.	686;654	Q01826-2;Q01826	.;SATB1_HUMAN	K	654;654;686	ENSP00000341024:E654K;ENSP00000399708:E654K;ENSP00000399518:E686K	ENSP00000341024:E654K	E	-	1	0	SATB1	18365998	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.659000	0.83766	2.350000	0.79820	0.462000	0.41574	GAA		0.577	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		T	18390994	C	T	18390994	3	4	264	1	0	0	0	0	1	0	0	0	13856	864	30	2	335	2	SATB1	3	18390994	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	122	18390994	179631436	20	14803											
KCNH8	131096	genome.wustl.edu	37	3	19384194	19384194	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:19384194G>C	ENST00000328405.2	+	4	824	c.558G>C	c.(556-558)ttG>ttC	p.L186F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	186					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGAACAAATTGAAAATAAATA	0.458																																					NSCLC(124;1625 1765 8018 24930 42026)											0			3											77	80	79					3																	19384194		2203	4300	6503	19359198	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.558G>C	3.37:g.19384194G>C	ENSP00000328813:p.Leu186Phe		19359198	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075651	0.55646	.	.	ENSG00000183960	ENST00000328405	D	0.98889	-5.21	5.81	5.81	0.92471	.	0.000000	0.27219	U	0.020369	D	0.97835	0.9289	L	0.55213	1.73	0.80722	D	1	B;D	0.54772	0.048;0.968	B;P	0.54460	0.024;0.753	D	0.96198	0.9143	9	.	.	.	.	7.6187	0.28173	0.194:0.0:0.806:0.0	.	186;186	B7Z398;Q96L42	.;KCNH8_HUMAN	F	186	ENSP00000328813:L186F	.	L	+	3	2	KCNH8	19359198	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.280000	0.43443	2.750000	0.94351	0.585000	0.79938	TTG		0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		C	19384194	G	C	19384194	3	2	264	1	0	0	0	0	1	0	0	0	8038	1281	45	3	572	3	KCNH8	3	19384194	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	993200	19384194	178638236	21	14804											
VPRBP	9730	genome.wustl.edu	37	3	51458102	51458102	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:51458102G>A	ENST00000335891.5	-	7	984	c.975C>T	c.(973-975)atC>atT	p.I325I				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	774	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GTTTACTGATGATCTGCCGGA	0.552																																																0			3											75	73	74					3																	51458102		1998	4179	6177	51433142	SO:0001819	synonymous_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.975C>T	3.37:g.51458102G>A			51433142	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37																																																																																					0.552	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		A	51458102	G	A	51458102	2	1	264	1	0	0	0	0	0	0	0	1	17185	1280	45	2		2	VPRBP	3	51458102	Silent	SNP	G	TCGA-24-1849-01A-01W-0639-09	32073908	51458102	146564328	22	14805											
DNASE1L3	1776	genome.wustl.edu	37	3	58183604	58183604	+	Silent	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:58183604C>T	ENST00000394549.2	-	6	964	c.648G>A	c.(646-648)ctG>ctA	p.L216L	DNASE1L3_ENST00000483681.1_Silent_p.L216L|DNASE1L3_ENST00000318316.3_Silent_p.L216L|DNASE1L3_ENST00000486455.1_Silent_p.L186L	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	216					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GGTCCCCGATCAGCCAAACAA	0.557																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)											0			3											141	124	130					3																	58183604		2203	4300	6503	58158644	SO:0001819	synonymous_variant	1776			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.648G>A	3.37:g.58183604C>T			58158644	B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	CCDS2886.1																																																																																				0.557	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		T	58183604	C	T	58183604	2	4	264	1	0	0	0	0	0	0	0	1	4663	813	29	2		2	DNASE1L3	3	58183604	Silent	SNP	C	TCGA-24-1849-01A-01W-0639-09	6725502	58183604	139838826	23	14806											
NCEH1	57552	genome.wustl.edu	37	3	172428818	172428818	+	5'UTR	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:172428818G>C	ENST00000475381.1	-	0	190				NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.P18R|NCEH1_ENST00000538775.1_Missense_Mutation_p.P18R			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1						lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AAGAGGAAAGGGCGATACCAC	0.637											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			3											37	38	37					3																	172428818		2203	4300	6503	173911512	SO:0001623	5_prime_UTR_variant	57552			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.-44C>G	3.37:g.172428818G>C		1900	173911512	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.885|6.885	0.532717|0.532717	0.13127|0.13127	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000538775;ENST00000273512	T|T;T	0.10763|0.05447	2.84|3.44;3.44	4.44|4.44	-2.12|-2.12	0.07165|0.07165	.|.	2.078290|2.078290	0.02327|0.02327	N|N	0.073592|0.073592	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.999907|0.999907	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.37596|0.37596	-0.9699|-0.9699	8|10	0.35671|0.32370	T|T	0.21|0.25	1.6944|1.6944	1.0056|1.0056	0.01486|0.01486	0.3323:0.2522:0.2793:0.1362|0.3323:0.2522:0.2793:0.1362	.|.	.|18	.|F5H7K4	.|.	A|R	9|18	ENSP00000392934:P9A|ENSP00000442464:P18R;ENSP00000273512:P18R	ENSP00000392934:P9A|ENSP00000273512:P18R	P|P	-|-	1|2	0|0	NCEH1|NCEH1	173911512|173911512	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.494000|0.494000	0.22467|0.22467	-0.592000|-0.592000	0.05851|0.05851	-0.283000|-0.283000	0.09986|0.09986	CCT|CCC		0.637	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		C	172428818	G	C	172428818	1	2	264	0	1	0	0	0	0	0	0	0	10215	1232	43	3		3	NCEH1	3	172428818	5'UTR	SNP	G	TCGA-24-1849-01A-01W-0639-09	114245214	172428818	25593612	24	14807											
CRMP1	1400	genome.wustl.edu	37	4	5843122	5843122	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr4:5843122T>G	ENST00000397890.2	-	8	938	c.724A>C	c.(724-726)Att>Ctt	p.I242L	CRMP1_ENST00000512574.1_Missense_Mutation_p.I240L|CRMP1_ENST00000324989.7_Missense_Mutation_p.I356L|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	242					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CGGCCCGCAATGGTGATGGCC	0.587																																																0			4											161	151	154					4																	5843122		2203	4300	6503	5894023	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.724A>C	4.37:g.5843122T>G	ENSP00000380987:p.Ile242Leu		5894023	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	T	9.588	1.125435	0.20959	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.89270	-2.49;-2.49;-2.49	4.44	4.44	0.53790	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.055721	0.64402	D	0.000002	T	0.77785	0.4182	N	0.04880	-0.145	0.53688	D	0.999979	B;B;B;B	0.10296	0.001;0.003;0.001;0.003	B;B;B;B	0.24155	0.015;0.023;0.023;0.051	T	0.72824	-0.4176	10	0.32370	T	0.25	-23.4934	13.0217	0.58791	0.0:0.0:0.0:1.0	.	356;240;242;179	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	L	356;242;242;240	ENSP00000321606:I356L;ENSP00000380987:I242L;ENSP00000425742:I240L	ENSP00000321606:I356L	I	-	1	0	CRMP1	5894023	1.000000	0.71417	0.992000	0.48379	0.008000	0.06430	2.340000	0.43974	1.883000	0.54544	0.260000	0.18958	ATT		0.587	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		G	5843122	T	G	5843122	3	3	264	1	0	0	0	0	1	0	0	0	3890	1464	51	5	1022	5	CRMP1	4	5843122	Missense_Mutation	SNP	T	TCGA-24-1849-01A-01W-0639-09		5843122	185311154	25	14808											
LPHN3	23284	genome.wustl.edu	37	4	62599215	62599215	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr4:62599215A>T	ENST00000514591.1	+	7	1467	c.1138A>T	c.(1138-1140)Aat>Tat	p.N380Y	LPHN3_ENST00000506746.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.N380Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.N380Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	380	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTATGTATGGAATAACTATCA	0.398																																																0			4											67	60	62					4																	62599215		1856	4106	5962	62281810	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1138A>T	4.37:g.62599215A>T	ENSP00000422533:p.Asn380Tyr		62281810	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431666	0.62844	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.96131	0.8739	M	0.91768	3.24	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.994	D	0.96987	0.9719	10	0.87932	D	0	.	14.4261	0.67218	1.0:0.0:0.0:0.0	.	380;448;380	E9PE04;E7EN28;Q9HAR2-2	.;.;.	Y	380;380;448;448;380;380;380;380;380;448;448;448;380;380;380;448;448;380	ENSP00000423388:N380Y;ENSP00000422533:N380Y;ENSP00000423787:N448Y;ENSP00000425033:N448Y;ENSP00000424120:N380Y;ENSP00000439831:N380Y;ENSP00000421476:N448Y;ENSP00000424030:N448Y;ENSP00000421372:N448Y;ENSP00000425201:N380Y;ENSP00000423434:N380Y;ENSP00000421627:N380Y;ENSP00000420931:N448Y;ENSP00000425884:N448Y;ENSP00000424258:N380Y	ENSP00000280009:N380Y	N	+	1	0	LPHN3	62281810	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.962000	0.93254	1.999000	0.58509	0.455000	0.32223	AAT		0.398	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			T	62599215	A	T	62599215	3	4	264	1	0	0	0	0	1	0	0	0	8917	246	9	5	1156	5	LPHN3	4	62599215	Missense_Mutation	SNP	A	TCGA-24-1849-01A-01W-0639-09	56756093	62599215	128555061	26	14809											
COX18	285521	genome.wustl.edu	37	4	73930590	73930590	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr4:73930590T>C	ENST00000295890.4	-	4	716	c.625A>G	c.(625-627)Act>Gct	p.T209A	COX18_ENST00000507544.2_Missense_Mutation_p.T210A	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	209					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTCCACCAGTAGCTAACTGT	0.373																																																0			4											75	74	75					4																	73930590		2203	4300	6503	74149454	SO:0001583	missense	285521			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"Mitochondrial respiratory chain complex assembly factors"	26801	protein-coding gene	gene with protein product		610428	"COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)", "cytochrome c oxidase assembly homolog 18 (yeast)"			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.625A>G	4.37:g.73930590T>C	ENSP00000295890:p.Thr209Ala		74149454	Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Missense_Mutation	SNP	ENST00000295890.4	37	CCDS3554.1	.	.	.	.	.	.	.	.	.	.	T	3.077	-0.189923	0.06299	.	.	ENSG00000163626	ENST00000295890;ENST00000507544	.	.	.	5.45	-7.4	0.01397	.	0.922886	0.09503	N	0.793371	T	0.25457	0.0619	L	0.43646	1.37	0.09310	N	0.999996	B;B	0.13145	0.003;0.007	B;B	0.24006	0.05;0.033	T	0.31336	-0.9947	9	0.14252	T	0.57	-0.2537	5.4104	0.16344	0.3237:0.3771:0.0:0.2992	.	210;209	B7ZL88;Q8N8Q8	.;COX18_HUMAN	A	209;210	.	ENSP00000295890:T209A	T	-	1	0	COX18	74149454	0.008000	0.16893	0.053000	0.19242	0.037000	0.13140	-0.215000	0.09279	-1.530000	0.01751	-1.237000	0.01550	ACT		0.373	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827		C	73930590	T	C	73930590	3	2	264	1	0	0	0	0	1	0	0	0	3767	1638	57	4	388	4	COX18	4	73930590	Missense_Mutation	SNP	T	TCGA-24-1849-01A-01W-0639-09	11331375	73930590	117223686	27	14810											
MAN2A1	4124	genome.wustl.edu	37	5	109120519	109120519	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:109120519C>T	ENST00000261483.4	+	10	2704	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	551					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTCTCATCATCACTTTACACG	0.378																																																0			5											110	109	110					5																	109120519		2202	4300	6502	109148418	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1652C>T	5.37:g.109120519C>T	ENSP00000261483:p.Ser551Leu		109148418	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877759	0.33162	.	.	ENSG00000112893	ENST00000261483	T	0.78364	-1.17	5.95	5.09	0.68999	Glycoside hydrolase, family 38, central domain (2);	0.851463	0.10336	N	0.686867	T	0.76550	0.4003	M	0.69358	2.11	0.09310	N	1	B	0.18166	0.026	B	0.29176	0.099	T	0.65212	-0.6223	10	0.36615	T	0.2	-0.0036	8.0705	0.30687	0.2601:0.662:0.0:0.0779	.	551	Q16706	MA2A1_HUMAN	L	551	ENSP00000261483:S551L	ENSP00000261483:S551L	S	+	2	0	MAN2A1	109148418	0.564000	0.26602	0.007000	0.13788	0.534000	0.34807	1.795000	0.38784	1.527000	0.49086	0.655000	0.94253	TCA		0.378	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			T	109120519	C	T	109120519	3	4	264	1	0	0	0	0	1	0	0	0	9214	838	29	2	1690	2	MAN2A1	5	109120519	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09		109120519	71794741	28	14811											
PCDHB10	56126	genome.wustl.edu	37	5	140572276	140572276	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:140572276G>A	ENST00000239446.4	+	1	335	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGCAAAGGATCTGGGACT	0.493																																																0			5											37	41	39					5																	140572276		2114	4246	6360	140552460	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.151G>A	5.37:g.140572276G>A	ENSP00000239446:p.Asp51Asn		140552460	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429216	0.83776	.	.	ENSG00000120324	ENST00000239446	T	0.61627	0.09	3.35	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.82093	0.4962	H	0.95043	3.615	0.44745	D	0.99774	D	0.89917	1.0	D	0.97110	1.0	D	0.88237	0.2907	9	0.72032	D	0.01	.	15.0182	0.71605	0.0:0.0:1.0:0.0	.	51	Q9UN67	PCDBA_HUMAN	N	51	ENSP00000239446:D51N	ENSP00000239446:D51N	D	+	1	0	PCDHB10	140552460	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.415000	0.73328	1.925000	0.55765	0.549000	0.68633	GAT		0.493	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		A	140572276	G	A	140572276	3	1	264	1	0	0	0	0	1	0	0	0	11535	1174	41	2	153	2	PCDHB10	5	140572276	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	31451757	140572276	40342984	29	14812											
HMMR	3161	genome.wustl.edu	37	5	162898429	162898429	+	Missense_Mutation	SNP	G	G	A	rs201965952	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:162898429G>A	ENST00000358715.3	+	7	643	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	HMMR_ENST00000353866.3_Missense_Mutation_p.E188K|HMMR_ENST00000393915.4_Missense_Mutation_p.E204K|HMMR_ENST00000432118.2_Missense_Mutation_p.E117K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	203					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAGGAGTCTCGAAGAGTCTCA	0.418													G|||	2	0.000399361	8e-04	0	5008	,	,		19907	0.001		0	False		,,,				2504	0															0			5						G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	78	78	78		610,349,607,562	0.7	0	5		78	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	HMMR	NM_001142556.1,NM_001142557.1,NM_012484.2,NM_012485.2	56,56,56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign	204/726,117/639,203/725,188/710	162898429	3,13003	2203	4300	6503	162831007	SO:0001583	missense	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.607G>A	5.37:g.162898429G>A	ENSP00000351554:p.Glu203Lys		162831007	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	2.601	-0.292990	0.05568	0.0	3.49E-4	ENSG00000072571	ENST00000416990;ENST00000520345;ENST00000522094;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.81247	2.92;-1.39;-1.39;3.09;-1.47	5.66	0.718	0.18202	.	1.114760	0.06532	N	0.741734	T	0.71753	0.3377	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.13594	0.008;0.004;0.003;0.003	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.49370	-0.8947	10	0.09590	T	0.72	-0.1513	8.9631	0.35860	0.2288:0.2902:0.4811:0.0	.	117;204;188;203	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	K	89;89;89;188;188;204;180;117;203	ENSP00000400527:E89K;ENSP00000185942:E188K;ENSP00000377492:E204K;ENSP00000402673:E117K;ENSP00000351554:E203K	ENSP00000185942:E188K	E	+	1	0	HMMR	162831007	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	0.245000	0.18142	-0.169000	0.10834	-0.880000	0.02959	GAA		0.418	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		A	162898429	G	A	162898429	3	1	264	1	0	0	0	0	1	0	0	0	7242	1059	37	1	636	1	HMMR	5	162898429	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	22326153	162898429	18016831	30	14813											
ERGIC1	57222	genome.wustl.edu	37	5	172336689	172336689	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:172336689G>A	ENST00000393784.3	+	4	314	c.175G>A	c.(175-177)Gat>Aat	p.D59N	ERGIC1_ENST00000523291.1_Missense_Mutation_p.D59N|ERGIC1_ENST00000326654.2_Missense_Mutation_p.D14N	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	59					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCTATGTCGATGACCCAGA	0.547																																																0			5											228	173	192					5																	172336689		2203	4300	6503	172269295	SO:0001583	missense	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.175G>A	5.37:g.172336689G>A	ENSP00000377374:p.Asp59Asn		172269295	Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	ENST00000393784.3	37	CCDS34292.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968477	0.92855	.	.	ENSG00000113719	ENST00000393784;ENST00000520326;ENST00000523291;ENST00000518247;ENST00000326654	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.75020	0.985;0.767	D	0.89632	0.3856	9	0.72032	D	0.01	-14.0036	18.18	0.89775	0.0:0.0:1.0:0.0	.	14;59	Q969X5-3;Q969X5	.;ERGI1_HUMAN	N	59;59;59;14;14	.	ENSP00000325127:D14N	D	+	1	0	ERGIC1	172269295	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.543000	0.98089	2.358000	0.79984	0.563000	0.77884	GAT		0.547	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		A	172336689	G	A	172336689	3	1	264	1	0	0	0	0	1	0	0	0	5223	1058	37	1	189	1	ERGIC1	5	172336689	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	9438260	172336689	8578571	31	14814											
BTNL9	153579	genome.wustl.edu	37	5	180477302	180477302	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:180477302C>A	ENST00000327705.9	+	4	900	c.669C>A	c.(667-669)agC>agA	p.S223R	BTNL9_ENST00000515271.1_Missense_Mutation_p.S154R|BTNL9_ENST00000376841.2_Missense_Mutation_p.S223R|BTNL9_ENST00000376842.3_Missense_Mutation_p.S223R	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	223						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCCCTCAGCAATGTGTCCG	0.547																																																0			5											114	114	114					5																	180477302		2203	4300	6503	180409908	SO:0001583	missense	153579			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.669C>A	5.37:g.180477302C>A	ENSP00000330200:p.Ser223Arg		180409908	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	C	3.210	-0.161752	0.06502	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	4.68	-0.373	0.12516	.	0.579850	0.15605	N	0.253697	T	0.03095	0.0091	N	0.17631	0.505	0.09310	N	1	B;B	0.28783	0.222;0.002	B;B	0.23419	0.046;0.003	T	0.40478	-0.9561	10	0.05833	T	0.94	.	1.9768	0.03418	0.2713:0.4365:0.132:0.1602	.	154;223	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	R	223;223;223;223;154	ENSP00000366037:S223R;ENSP00000330200:S223R;ENSP00000366038:S223R;ENSP00000427345:S154R	ENSP00000330200:S223R	S	+	3	2	BTNL9	180409908	0.000000	0.05858	0.045000	0.18777	0.014000	0.08584	-0.862000	0.04263	-0.175000	0.10725	-0.188000	0.12872	AGC		0.547	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		A	180477302	C	A	180477302	3	1	264	1	0	0	0	0	1	0	0	0	1568	709	25	3	679	3	BTNL9	5	180477302	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	8140613	180477302	437958	32	14815											
GPX6	257202	genome.wustl.edu	37	6	28472114	28472114	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr6:28472114G>A	ENST00000474923.1	-	4	564	c.521C>T	c.(520-522)tCa>tTa	p.S174L	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000361902.1_Silent_p.V207V			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGTCTGACTTGACTGTGCTGA	0.512																																																0			6											151	144	146					6																	28472114		2044	4230	6274	28580093	SO:0001583	missense	257202				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"glutathione peroxidase pseudogene 3"	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.521C>T	6.37:g.28472114G>A	ENSP00000417364:p.Ser174Leu		28580093	Q4PJ17	Silent	SNP	ENST00000474923.1	37		.	.	.	.	.	.	.	.	.	.	G	9.528	1.110005	0.20714	.	.	ENSG00000198704	ENST00000474923	T	0.12984	2.63	4.4	0.52	0.17040	.	.	.	.	.	T	0.11495	0.0280	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05162	-1.0902	6	0.49607	T	0.09	.	10.1257	0.42648	0.0861:0.6032:0.3106:0.0	.	.	.	.	L	174	ENSP00000417364:S174L	ENSP00000417364:S174L	S	-	2	0	GPX6	28580093	0.973000	0.33851	0.106000	0.21319	0.009000	0.06853	0.285000	0.18883	0.063000	0.16370	-0.150000	0.13652	TCA		0.512	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5			A	28472114	G	A	28472114	3	1	264	1	0	0	0	0	1	0	0	0	6744	1277	45	2	48	2	GPX6	6	28472114	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09		28472114	142642953	33	14816											
DDR1	780	genome.wustl.edu	37	6	30858798	30858798	+	Frame_Shift_Del	DEL	G	G	-	rs144609719		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr6:30858798delG	ENST00000324771.8	+	7	1014	c.466delG	c.(466-468)gggfs	p.G156fs	DDR1_ENST00000452441.1_Frame_Shift_Del_p.G156fs|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376570.4_Frame_Shift_Del_p.G156fs|DDR1_ENST00000376575.3_Frame_Shift_Del_p.G156fs|DDR1_ENST00000446312.1_Frame_Shift_Del_p.G156fs|DDR1_ENST00000376567.2_Frame_Shift_Del_p.G156fs|DDR1_ENST00000513240.1_Frame_Shift_Del_p.G156fs|DDR1_ENST00000418800.2_Frame_Shift_Del_p.G156fs|DDR1_ENST00000508312.1_Frame_Shift_Del_p.G174fs|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376568.3_Frame_Shift_Del_p.G156fs|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000376569.3_Frame_Shift_Del_p.G156fs|DDR1_ENST00000454612.2_Frame_Shift_Del_p.G156fs			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	156	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAAGGACCTTGGGCCCCCCAT	0.627																																																0			6											62	61	61					6																	30858798		1510	2709	4219	30966777	SO:0001589	frameshift_variant	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.466delG	6.37:g.30858798delG	ENSP00000318217:p.Gly156fs		30966777	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Del	DEL	ENST00000324771.8	37	CCDS34385.1																																																																																				0.627	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		-	30858798	G	-	30858798	7	5	264	1	0	1	0	1	0	0	0	0	4336	1348	47	0	480	0	DDR1	6	30858798	Frame_Shift_Del	DEL	G	TCGA-24-1849-01A-01W-0639-09	2386684	30858798	140256269	34	14817											
ENPP1	5167	genome.wustl.edu	37	6	132171147	132171147	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr6:132171147C>T	ENST00000360971.2	+	3	351	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	111	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|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)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.R59C(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTGCAAAGGTCGCTGTTTCGA	0.383																																					Colon(104;336 1535 5856 11019 33782)											1	Substitution - Missense(1)	ovary(1)	6											128	122	124					6																	132171147		2203	4300	6503	132212840	SO:0001583	missense	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.331C>T	6.37:g.132171147C>T	ENSP00000354238:p.Arg111Cys		132212840	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333520	0.81801	.	.	ENSG00000197594	ENST00000360971	T	0.63255	-0.03	5.16	5.16	0.70880	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.000000	0.64402	D	0.000002	T	0.81635	0.4864	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85706	0.1316	10	0.87932	D	0	-16.9205	17.7963	0.88572	0.0:1.0:0.0:0.0	.	111	P22413	ENPP1_HUMAN	C	111	ENSP00000354238:R111C	ENSP00000354238:R111C	R	+	1	0	ENPP1	132212840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.031000	0.64134	2.563000	0.86464	0.650000	0.86243	CGC		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			T	132171147	C	T	132171147	3	4	264	1	0	0	0	0	1	0	0	0	5129	884	31	1	341	1	ENPP1	6	132171147	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	101312349	132171147	38943920	35	14818											
GPR31	2853	genome.wustl.edu	37	6	167570885	167570885	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr6:167570885G>A	ENST00000366834.1	-	1	932	c.435C>T	c.(433-435)ctC>ctT	p.L145L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	145					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CCGGGCAGGTGAGGGCGACCA	0.647																																																0			6											51	60	57					6																	167570885		2203	4300	6503	167490875	SO:0001819	synonymous_variant	2853			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"GPCR / Class A : Orphans"	4486	protein-coding gene	gene with protein product	"hydroxyeicosatetraenoic (HETE) acid receptor 1", "12-(S)-HETE acid receptor"	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.435C>T	6.37:g.167570885G>A			167490875	B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	ENST00000366834.1	37	CCDS5299.1																																																																																				0.647	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		A	167570885	G	A	167570885	2	1	264	1	0	0	0	0	0	0	0	1	6687	1277	45	2		2	GPR31	6	167570885	Silent	SNP	G	TCGA-24-1849-01A-01W-0639-09	35399738	167570885	3544182	36	14819											
STEAP1	26872	genome.wustl.edu	37	7	89790156	89790156	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr7:89790156C>A	ENST00000297205.2	+	3	322	c.122C>A	c.(121-123)cCt>cAt	p.P41H	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	41					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					CTAAAAAGACCTGTGCTTTTG	0.418																																																0			7											112	109	110					7																	89790156		2203	4300	6503	89628092	SO:0001583	missense	26872			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.122C>A	7.37:g.89790156C>A	ENSP00000297205:p.Pro41His		89628092	A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.712189	0.30322	.	.	ENSG00000164647	ENST00000297205	T	0.08008	3.14	5.02	4.13	0.48395	.	0.196420	0.36444	N	0.002588	T	0.09423	0.0232	L	0.46885	1.475	0.30681	N	0.75235	B;B	0.11235	0.004;0.002	B;B	0.08055	0.003;0.003	T	0.02877	-1.1099	10	0.52906	T	0.07	-1.7414	11.9922	0.53182	0.3139:0.6861:0.0:0.0	.	41;41	B4E221;Q9UHE8	.;STEA1_HUMAN	H	41	ENSP00000297205:P41H	ENSP00000297205:P41H	P	+	2	0	STEAP1	89628092	0.963000	0.33076	0.998000	0.56505	0.699000	0.40488	1.232000	0.32636	1.317000	0.45149	0.655000	0.94253	CCT		0.418	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		A	89790156	C	A	89790156	3	1	264	1	0	0	0	0	1	0	0	0	15279	681	24	3	128	3	STEAP1	7	89790156	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09		89790156	69348507	37	14820											
GCC1	79571	genome.wustl.edu	37	7	127222558	127222558	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr7:127222558G>C	ENST00000321407.2	-	2	2262	c.1838C>G	c.(1837-1839)tCt>tGt	p.S613C	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	613					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGCAGCCCAGAGGCCAAGGC	0.592																																																0			7											70	69	69					7																	127222558		2203	4300	6503	127009794	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1838C>G	7.37:g.127222558G>C	ENSP00000318821:p.Ser613Cys		127009794	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027847	0.19512	.	.	ENSG00000179562	ENST00000321407	T	0.13657	2.57	5.24	3.4	0.38934	.	0.429791	0.24776	N	0.035683	T	0.13670	0.0331	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15093	-1.0449	10	0.45353	T	0.12	-0.4673	12.3573	0.55182	0.0:0.3258:0.6742:0.0	.	613	Q96CN9	GCC1_HUMAN	C	613	ENSP00000318821:S613C	ENSP00000318821:S613C	S	-	2	0	GCC1	127009794	0.968000	0.33430	0.039000	0.18376	0.981000	0.71138	4.399000	0.59703	0.665000	0.31066	0.655000	0.94253	TCT		0.592	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		C	127222558	G	C	127222558	3	2	264	1	0	0	0	0	1	0	0	0	6285	942	33	3	493	3	GCC1	7	127222558	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	37432402	127222558	31916105	38	14821											
CLCN1	1180	genome.wustl.edu	37	7	143029567	143029567	+	Missense_Mutation	SNP	C	C	G	rs202019723		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr7:143029567C>G	ENST00000343257.2	+	11	1309	c.1222C>G	c.(1222-1224)Cca>Gca	p.P408A		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	408					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CACCTTCCCACCAGGAATGGG	0.483																																																0			7	GRCh37	CM076097	CLCN1	M		C	ALA/PRO	1,4405	2.1+/-5.4	0,1,2202	151	139	143		1222	5.3	1	7		143	0,8600		0,0,4300	no	missense	CLCN1	NM_000083.2	27	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign	408/989	143029567	1,13005	2203	4300	6503	142739689	SO:0001583	missense	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1222C>G	7.37:g.143029567C>G	ENSP00000339867:p.Pro408Ala		142739689	A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594771	0.86953	2.27E-4	0.0	ENSG00000188037	ENST00000343257	D	0.93247	-3.19	5.29	5.29	0.74685	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	L	0.53617	1.68	0.51012	D	0.999906	D	0.89917	1.0	D	0.79784	0.993	D	0.92233	0.5794	10	0.08599	T	0.76	.	18.9352	0.92583	0.0:1.0:0.0:0.0	.	408	P35523	CLCN1_HUMAN	A	408	ENSP00000339867:P408A	ENSP00000339867:P408A	P	+	1	0	CLCN1	142739689	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	5.689000	0.68234	2.476000	0.83614	0.643000	0.83706	CCA		0.483	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		G	143029567	C	G	143029567	3	3	264	1	0	0	0	0	1	0	0	0	3462	507	18	3	1264	3	CLCN1	7	143029567	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	15807009	143029567	16109096	39	14822											
PTPRN2	5799	genome.wustl.edu	37	7	157475568	157475568	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr7:157475568G>A	ENST00000389418.4	-	13	1859	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	PTPRN2_ENST00000404321.2_Missense_Mutation_p.A640V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A600V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A579V|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A588V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	617					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGGGTGAGCGCGATGAACTT	0.582																																																0			7											112	114	113					7																	157475568		2203	4300	6503	157168329	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1850C>T	7.37:g.157475568G>A	ENSP00000374069:p.Ala617Val		157168329	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136375	0.06711	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02737	4.2;4.18;4.2;4.2;4.19	4.73	3.58	0.41010	.	0.650367	0.12584	N	0.456142	T	0.00906	0.0030	N	0.00268	-1.735	0.29140	N	0.879094	B;B;B;B;B	0.16802	0.019;0.004;0.014;0.002;0.004	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0	T	0.40478	-0.9561	10	0.13108	T	0.6	.	9.5277	0.39173	0.9144:0.0:0.0856:0.0	.	640;579;588;600;617	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	579;588;600;617;640	ENSP00000387114:A579V;ENSP00000374064:A588V;ENSP00000374067:A600V;ENSP00000374069:A617V;ENSP00000385464:A640V	ENSP00000374064:A588V	A	-	2	0	PTPRN2	157168329	1.000000	0.71417	0.429000	0.26710	0.241000	0.25554	6.613000	0.74192	0.655000	0.30866	-0.302000	0.09304	GCG		0.582	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			A	157475568	G	A	157475568	3	1	264	1	0	0	0	0	1	0	0	0	12811	1087	38	1	1241	1	PTPRN2	7	157475568	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	14446001	157475568	1663095	40	14823											
ADAM18	8749	genome.wustl.edu	37	8	39505872	39505872	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:39505872T>A	ENST00000265707.5	+	12	1101	c.1056T>A	c.(1054-1056)agT>agA	p.S352R	ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Missense_Mutation_p.S328R	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	352	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGAGTGCCAGTGGTAGAAAGA	0.338																																																0			8											51	52	52					8																	39505872		2203	4300	6503	39625029	SO:0001583	missense	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1056T>A	8.37:g.39505872T>A	ENSP00000265707:p.Ser352Arg		39625029	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	T	0.133	-1.111368	0.01813	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.10099	2.91;2.91	5.4	3.03	0.35002	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.117180	0.39407	N	0.001363	T	0.09423	0.0232	L	0.42632	1.34	0.80722	D	1	B;B	0.17465	0.018;0.022	B;B	0.26614	0.042;0.071	T	0.23691	-1.0181	10	0.25751	T	0.34	.	6.5858	0.22620	0.1395:0.08:0.0:0.7805	.	328;352	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	R	352;328;284	ENSP00000265707:S352R;ENSP00000369195:S328R	ENSP00000265707:S352R	S	+	3	2	ADAM18	39625029	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	0.828000	0.27435	0.145000	0.18977	-3.049000	0.00069	AGT		0.338	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		A	39505872	T	A	39505872	3	1	264	1	0	0	0	0	1	0	0	0	239	1693	59	5	1102	5	ADAM18	8	39505872	Missense_Mutation	SNP	T	TCGA-24-1849-01A-01W-0639-09		39505872	106858150	41	14824											
CYP7B1	9420	genome.wustl.edu	37	8	65517322	65517322	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:65517322C>T	ENST00000310193.3	-	5	1323	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	384					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ACACAGTAGTCCCCGGTCTCT	0.458																																																0			8											131	125	127					8																	65517322		2203	4300	6503	65679876	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1150G>A	8.37:g.65517322C>T	ENSP00000310721:p.Asp384Asn		65679876	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589411	0.28357	.	.	ENSG00000172817	ENST00000310193	D	0.85339	-1.97	6.17	1.28	0.21552	.	0.857205	0.11054	N	0.604665	T	0.79358	0.4432	L	0.45698	1.435	0.09310	N	1	B	0.17038	0.02	B	0.21151	0.033	T	0.62576	-0.6825	10	0.28530	T	0.3	-0.2078	9.7392	0.40406	0.0:0.6142:0.0:0.3858	.	384	O75881	CP7B1_HUMAN	N	384	ENSP00000310721:D384N	ENSP00000310721:D384N	D	-	1	0	CYP7B1	65679876	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.551000	0.23361	-0.041000	0.13558	0.655000	0.94253	GAC		0.458	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			T	65517322	C	T	65517322	3	4	264	1	0	0	0	0	1	0	0	0	4197	855	30	2	378	2	CYP7B1	8	65517322	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	26011450	65517322	80846700	42	14825											
VPS13B	157680	genome.wustl.edu	37	8	100791076	100791076	+	Silent	SNP	A	A	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:100791076A>G	ENST00000358544.2	+	42	7782	c.7671A>G	c.(7669-7671)ctA>ctG	p.L2557L	VPS13B_ENST00000357162.2_Silent_p.L2532L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2557					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTAAACTTCTAGAGTGCAGAA	0.453																																					Colon(161;2205 2542 7338 31318)											0			8											124	116	119					8																	100791076		2203	4300	6503	100860252	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7671A>G	8.37:g.100791076A>G			100860252	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100791076	A	G	100791076	2	3	264	1	0	0	0	0	0	0	0	1	17190	407	15	4		4	VPS13B	8	100791076	Silent	SNP	A	TCGA-24-1849-01A-01W-0639-09	35273754	100791076	45572946	43	14826											
PKHD1L1	93035	genome.wustl.edu	37	8	110471858	110471858	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:110471858G>C	ENST00000378402.5	+	47	7143	c.7039G>C	c.(7039-7041)Gca>Cca	p.A2347P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2347					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGACCATTGCATCTGTGTC	0.318										HNSCC(38;0.096)																																						0			8											64	57	59					8																	110471858		1850	4094	5944	110541034	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7039G>C	8.37:g.110471858G>C	ENSP00000367655:p.Ala2347Pro		110541034	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080460	0.36662	.	.	ENSG00000205038	ENST00000378402	D	0.93076	-3.16	5.44	5.44	0.79542	.	0.199993	0.41500	D	0.000868	D	0.90834	0.7121	L	0.49256	1.55	0.28232	N	0.926064	P	0.36990	0.577	B	0.39590	0.304	D	0.86210	0.1624	10	0.37606	T	0.19	.	11.7984	0.52112	0.0:0.0:0.8246:0.1754	.	2347	Q86WI1	PKHL1_HUMAN	P	2347	ENSP00000367655:A2347P	ENSP00000367655:A2347P	A	+	1	0	PKHD1L1	110541034	0.975000	0.34042	0.783000	0.31826	0.121000	0.20230	4.857000	0.62939	2.566000	0.86566	0.455000	0.32223	GCA		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110471858	G	C	110471858	3	2	264	1	0	0	0	0	1	0	0	0	11972	1319	46	3	7225	3	PKHD1L1	8	110471858	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	9680782	110471858	35892164	44	14827											
PLEC	5339	genome.wustl.edu	37	8	144997783	144997783	+	Missense_Mutation	SNP	G	G	A	rs74772299	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:144997783G>A	ENST00000322810.4	-	31	6894	c.6725C>T	c.(6724-6726)gCg>gTg	p.A2242V	PLEC_ENST00000354958.2_Missense_Mutation_p.A2083V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2105V|PLEC_ENST00000356346.3_Missense_Mutation_p.A2091V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2073V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2132V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2109V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2105V|PLEC_ENST00000527096.1_Missense_Mutation_p.A2128V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2242	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGGACTGCGCCGCCTCACG	0.756													G|||	327	0.0652955	0.0015	0.1354	5008	,	,		9813	0.0437		0.0368	False		,,,				2504	0.1534															0			8						G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	31,3509		0,31,1739	5	7	6		6314,6326,6314,6218,6725,6248,6272,6395	2.9	0	8	dbSNP_131	6	285,7369		1,283,3543	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	64,64,64,64,64,64,64,64	1,314,5282	AA,AG,GG		3.7235,0.8757,2.8229	benign,benign,benign,benign,benign,benign,benign,benign	2105/4548,2109/4552,2105/4548,2073/4516,2242/4685,2083/4526,2091/4534,2132/4575	144997783	316,10878	1770	3827	5597	145069771	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6725C>T	8.37:g.144997783G>A	ENSP00000323856:p.Ala2242Val		145069771	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	90	0.04120879120879121	1	0.0020325203252032522	43	0.11878453038674033	20	0.03496503496503497	26	0.03430079155672823	G	7.181	0.589567	0.13812	0.008757	0.037235	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77750	-1.09;-1.09;-1.12;-1.12;-1.1;-1.09;-1.08;-1.09;-1.09	4.76	2.93	0.34026	.	0.181251	0.33110	U	0.005270	T	0.02230	0.0069	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B;B;B;B	0.28971	0.229;0.229;0.229;0.147;0.229;0.229;0.229;0.229	B;B;B;B;B;B;B;B	0.24269	0.052;0.052;0.052;0.023;0.052;0.052;0.052;0.052	T	0.06917	-1.0800	10	0.44086	T	0.13	.	5.8336	0.18594	0.0785:0.1365:0.644:0.141	.	2132;2091;2083;2242;2073;2105;2109;2105	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	2105;2109;2105;2073;2242;2083;2091;2132;2128	ENSP00000344848:A2105V;ENSP00000350277:A2109V;ENSP00000346602:A2105V;ENSP00000381756:A2073V;ENSP00000323856:A2242V;ENSP00000347044:A2083V;ENSP00000348702:A2091V;ENSP00000388180:A2132V;ENSP00000434583:A2128V	ENSP00000323856:A2242V	A	-	2	0	PLEC	145069771	0.093000	0.21703	0.001000	0.08648	0.634000	0.38068	2.548000	0.45794	0.419000	0.25927	0.448000	0.29417	GCG		0.756	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144997783	G	A	144997783	3	1	264	1	0	0	0	0	1	0	0	0	12052	1087	38	1	7337	1	PLEC	8	144997783	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	34525925	144997783	1366239	45	14828											
PIGO	84720	genome.wustl.edu	37	9	35092719	35092719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:35092719G>A	ENST00000378617.3	-	7	1559	c.1165C>T	c.(1165-1167)Caa>Taa	p.Q389*	PIGO_ENST00000298004.5_Nonsense_Mutation_p.Q389*|PIGO_ENST00000341666.3_Nonsense_Mutation_p.Q389*|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Nonsense_Mutation_p.Q389*	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	389					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTTAGCTTGAAGGTCCTGA	0.552																																																0			9											51	58	55					9																	35092719		2167	4205	6372	35082719	SO:0001587	stop_gained	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1165C>T	9.37:g.35092719G>A	ENSP00000367880:p.Gln389*		35082719	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Nonsense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574312	0.86542	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	.	.	.	5.38	3.49	0.39957	.	0.422688	0.29846	N	0.011060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-10.9474	12.3161	0.54958	0.0:0.1293:0.736:0.1347	.	.	.	.	X	389	.	ENSP00000298004:Q389X	Q	-	1	0	PIGO	35082719	1.000000	0.71417	0.680000	0.29994	0.898000	0.52572	5.565000	0.67365	0.802000	0.34089	-0.182000	0.12963	CAA		0.552	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		A	35092719	G	A	35092719	4	1	264	1	0	0	0	0	0	1	0	0	11894	1299	45	2	2124	2	PIGO	9	35092719	Nonsense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09		35092719	106120712	46	14829											
MAMDC2	256691	genome.wustl.edu	37	9	72785416	72785416	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:72785416G>C	ENST00000377182.4	+	11	2137	c.1520G>C	c.(1519-1521)gGa>gCa	p.G507A	MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000420573.1_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000377178.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	507	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCTCCACCTGGAGAGTGTACT	0.473																																																0			9											80	79	80					9																	72785416		2203	4300	6503	71975236	SO:0001583	missense	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1520G>C	9.37:g.72785416G>C	ENSP00000366387:p.Gly507Ala		71975236	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019796	0.75275	.	.	ENSG00000165072	ENST00000377182	T	0.01998	4.51	5.47	5.47	0.80525	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	M	0.69523	2.12	0.80722	D	1	D	0.53462	0.96	P	0.56474	0.799	T	0.47222	-0.9134	10	0.11794	T	0.64	-23.0172	19.6788	0.95950	0.0:0.0:1.0:0.0	.	507	Q7Z304	MAMC2_HUMAN	A	507	ENSP00000366387:G507A	ENSP00000366387:G507A	G	+	2	0	MAMDC2	71975236	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.889000	0.87307	2.720000	0.93068	0.491000	0.48974	GGA		0.473	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		C	72785416	G	C	72785416	3	2	264	1	0	0	0	0	1	0	0	0	9203	1174	41	3	1562	3	MAMDC2	9	72785416	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	37692697	72785416	68428015	47	14830											
WDR31	114987	genome.wustl.edu	37	9	116082736	116082736	+	Silent	SNP	A	A	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:116082736A>C	ENST00000374193.4	-	9	927	c.681T>G	c.(679-681)ccT>ccG	p.P227P	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Silent_p.P102P|WDR31_ENST00000341761.4_Silent_p.P226P	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	227										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GCTGCTTTGCAGGAAACATAT	0.488																																																0			9											105	92	96					9																	116082736		2203	4300	6503	115122557	SO:0001819	synonymous_variant	114987			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.681T>G	9.37:g.116082736A>C			115122557	Q5W0T9|Q96EG8	Silent	SNP	ENST00000374193.4	37	CCDS35110.1																																																																																				0.488	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		C	116082736	A	C	116082736	2	2	264	1	0	0	0	0	0	0	0	1	17286	175	7	5		5	WDR31	9	116082736	Silent	SNP	A	TCGA-24-1849-01A-01W-0639-09	43297320	116082736	25130695	48	14831											
DAB2IP	153090	genome.wustl.edu	37	9	124528909	124528909	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:124528909C>G	ENST00000408936.3	+	9	1779	c.1597C>G	c.(1597-1599)Ccc>Gcc	p.P533A	DAB2IP_ENST00000309989.1_Missense_Mutation_p.P409A|DAB2IP_ENST00000259371.2_Missense_Mutation_p.P505A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	533	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CATCATGTCGCCCTCACTCTT	0.637																																																0			9											155	134	141					9																	124528909		2203	4300	6503	123568730	SO:0001583	missense	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1597C>G	9.37:g.124528909C>G	ENSP00000386183:p.Pro533Ala		123568730	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37		.	.	.	.	.	.	.	.	.	.	c	21.4	4.147246	0.77888	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.56	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90614	0.4554	10	0.87932	D	0	.	12.263	0.54661	0.0:0.917:0.0:0.083	.	505	G3XA90	.	A	505;533;442;409	ENSP00000259371:P505A;ENSP00000386183:P533A;ENSP00000362887:P442A;ENSP00000310827:P409A	ENSP00000259371:P505A	P	+	1	0	DAB2IP	123568730	1.000000	0.71417	0.909000	0.35828	0.965000	0.64279	6.055000	0.71103	1.064000	0.40671	-0.124000	0.14976	CCC		0.637	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		G	124528909	C	G	124528909	3	3	264	1	0	0	0	0	1	0	0	0	4219	739	26	3	1547	3	DAB2IP	9	124528909	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	8446173	124528909	16684522	49	14832											
PTGS1	5742	genome.wustl.edu	37	9	125148802	125148802	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:125148802G>C	ENST00000362012.2	+	9	1092	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000223423.4_Missense_Mutation_p.E363Q|PTGS1_ENST00000540753.1_Missense_Mutation_p.E338Q|PTGS1_ENST00000373698.5_Missense_Mutation_p.E254Q	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	363					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATTTGACCCAGAGCTGCTGTT	0.537																																																0			9											176	175	176					9																	125148802		2203	4300	6503	124188623	SO:0001583	missense	5742			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1087G>C	9.37:g.125148802G>C	ENSP00000354612:p.Glu363Gln		124188623	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085784	0.36758	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.36	4.47	0.54385	.	0.211332	0.49305	D	0.000147	T	0.26011	0.0634	M	0.70842	2.15	0.41659	D	0.98917	P;P;B	0.46277	0.875;0.702;0.322	P;B;B	0.56216	0.794;0.356;0.272	T	0.01175	-1.1428	10	0.45353	T	0.12	-27.6502	12.8782	0.58001	0.0782:0.0:0.9218:0.0	.	338;363;363	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	Q	338;363;363;254	ENSP00000437709:E338Q;ENSP00000354612:E363Q;ENSP00000223423:E363Q;ENSP00000362802:E254Q	ENSP00000223423:E363Q	E	+	1	0	PTGS1	124188623	1.000000	0.71417	0.830000	0.32933	0.296000	0.27459	3.451000	0.52964	1.261000	0.44149	0.563000	0.77884	GAG		0.537	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			C	125148802	G	C	125148802	3	2	264	1	0	0	0	0	1	0	0	0	12758	943	33	3	1121	3	PTGS1	9	125148802	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	619893	125148802	16064629	50	14833											
ATP5C1	509	genome.wustl.edu	37	10	7830180	7830180	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr10:7830180C>T	ENST00000356708.7	+	1	89	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C	ATP5C1_ENST00000541227.1_5'UTR|KIN_ENST00000535925.1_5'Flank|KIN_ENST00000543003.1_5'Flank|ATP5C1_ENST00000335698.4_Missense_Mutation_p.R4C|ATP5C1_ENST00000493053.1_3'UTR|KIN_ENST00000379562.4_5'Flank	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	4					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CATGTTCTCTCGCGCGGGTGT	0.662																																					Melanoma(143;1012 1820 16249 30920 33158)											0			10											37	35	36					10																	7830180		2203	4300	6503	7870186	SO:0001583	missense	509			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.10C>T	10.37:g.7830180C>T	ENSP00000349142:p.Arg4Cys		7870186	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532238	0.45073	.	.	ENSG00000165629	ENST00000356708;ENST00000335698	.	.	.	5.86	1.56	0.23342	.	0.047662	0.85682	D	0.000000	T	0.32526	0.0832	L	0.46157	1.445	0.23791	N	0.996834	B	0.25521	0.128	B	0.17098	0.017	T	0.35549	-0.9784	9	0.87932	D	0	-0.3204	9.4131	0.38505	0.3501:0.5842:0.0:0.0656	.	4	P36542	ATPG_HUMAN	C	4	.	ENSP00000338568:R4C	R	+	1	0	ATP5C1	7870186	0.885000	0.30320	0.368000	0.25939	0.002000	0.02628	0.955000	0.29188	0.816000	0.34421	-0.897000	0.02905	CGC		0.662	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		T	7830180	C	T	7830180	3	4	264	1	0	0	0	0	1	0	0	0	1149	884	31	1	12	1	ATP5C1	10	7830180	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09		7830180	127704567	51	14834											
EML3	256364	genome.wustl.edu	37	11	62378798	62378799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr11:62378798_62378799insC	ENST00000394773.2	-	3	519_520	c.212_213insG	c.(211-213)ggafs	p.G71fs	EML3_ENST00000278845.4_Frame_Shift_Ins_p.G72fs|EML3_ENST00000494176.2_Frame_Shift_Ins_p.G43fs|EML3_ENST00000531557.1_5'Flank|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000529309.1_Frame_Shift_Ins_p.G71fs|ROM1_ENST00000278833.3_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	71						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.L72fs*46(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGTGGCAGTCCTGGGGGGGC	0.599																																																1	Insertion - Frameshift(1)	breast(1)	11																																								62135375	SO:0001589	frameshift_variant	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.213dupG	11.37:g.62378800_62378800dupC	ENSP00000378254:p.Gly71fs		62135374	Q6ZQW7|Q8NA55	Frame_Shift_Ins	INS	ENST00000394773.2	37	CCDS8023.2																																																																																				0.599	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		C	62378799	-	C	62378798	7	5	264	1	0	1	1	0	0	0	0	0	5098	1654	58	0	2557	0	EML3	11	62378798	Frame_Shift_Ins	INS	-	TCGA-24-1849-01A-01W-0639-09		62378798	72627718	52	14835											
CATSPER1	117144	genome.wustl.edu	37	11	65793553	65793553	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr11:65793553G>T	ENST00000312106.5	-	1	435	c.298C>A	c.(298-300)Ccc>Acc	p.P100T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	100	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCTTGAGAGGGAGCCAGACCA	0.612																																																0			11											142	128	132					11																	65793553		2201	4296	6497	65550129	SO:0001583	missense	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.298C>A	11.37:g.65793553G>T	ENSP00000309052:p.Pro100Thr		65550129	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466690	0.43839	.	.	ENSG00000175294	ENST00000312106	D	0.97710	-4.5	3.62	-2.98	0.05513	.	5.018390	0.00718	N	0.000872	D	0.97532	0.9192	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	P	0.60789	0.879	D	0.90719	0.4633	10	0.72032	D	0.01	-0.211	2.9999	0.06010	0.0947:0.1366:0.3503:0.4184	.	100	Q8NEC5	CTSR1_HUMAN	T	100	ENSP00000309052:P100T	ENSP00000309052:P100T	P	-	1	0	CATSPER1	65550129	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.534000	0.06150	-0.783000	0.04534	-1.083000	0.02208	CCC		0.612	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		T	65793553	G	T	65793553	3	4	264	1	0	0	0	0	1	0	0	0	2687	1174	41	3	2092	3	CATSPER1	11	65793553	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	3414755	65793553	69212963	53	14836											
OR10G9	219870	genome.wustl.edu	37	11	123893854	123893854	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr11:123893854G>A	ENST00000375024.1	+	1	135	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCATCCTGCTGGTGATCAGGG	0.567																																																0			11											89	81	84					11																	123893854		2201	4295	6496	123399064	SO:0001819	synonymous_variant	219870			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.135G>A	11.37:g.123893854G>A			123399064		Silent	SNP	ENST00000375024.1	37	CCDS31703.1																																																																																				0.567	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		A	123893854	G	A	123893854	2	1	264	1	0	0	0	0	0	0	0	1	10904	1335	47	2		2	OR10G9	11	123893854	Silent	SNP	G	TCGA-24-1849-01A-01W-0639-09	58100301	123893854	11112662	54	14837											
ESPL1	9700	genome.wustl.edu	37	12	53676143	53676143	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr12:53676143G>A	ENST00000257934.4	+	14	2806	c.2715G>A	c.(2713-2715)ctG>ctA	p.L905L	ESPL1_ENST00000552462.1_Silent_p.L905L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	905					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCAGGTCCTGCAGCTGGTGG	0.582																																					Colon(53;1069 1201 2587 5382)											0			12											134	109	118					12																	53676143		2203	4300	6503	51962410	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2715G>A	12.37:g.53676143G>A			51962410		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53676143	G	A	53676143	2	1	264	1	0	0	0	0	0	0	0	1	5253	1306	46	2		2	ESPL1	12	53676143	Silent	SNP	G	TCGA-24-1849-01A-01W-0639-09		53676143	80175752	55	14838											
ESPL1	9700	genome.wustl.edu	37	12	53681787	53681787	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr12:53681787A>G	ENST00000257934.4	+	19	4299	c.4208A>G	c.(4207-4209)gAc>gGc	p.D1403G	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403G	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1403					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GACTTGGAAGACCCTGTCTCA	0.582											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(53;1069 1201 2587 5382)											0			12											48	49	49					12																	53681787		2196	4293	6489	51968054	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4208A>G	12.37:g.53681787A>G	ENSP00000257934:p.Asp1403Gly	994	51968054		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912671	0.52439	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11930	2.73;2.73	5.8	5.8	0.92144	.	0.429106	0.26935	N	0.021758	T	0.14917	0.0360	M	0.67953	2.075	0.38650	D	0.951822	P	0.44734	0.842	B	0.31946	0.138	T	0.07578	-1.0765	10	0.56958	D	0.05	.	13.6779	0.62465	1.0:0.0:0.0:0.0	.	1403	Q14674	ESPL1_HUMAN	G	1403;1078;1403	ENSP00000257934:D1403G;ENSP00000449831:D1403G	ENSP00000257934:D1403G	D	+	2	0	ESPL1	51968054	0.904000	0.30761	1.000000	0.80357	0.866000	0.49608	1.066000	0.30604	2.221000	0.72209	0.528000	0.53228	GAC		0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		G	53681787	A	G	53681787	3	3	264	1	0	0	0	0	1	0	0	0	5253	275	10	4	4278	4	ESPL1	12	53681787	Missense_Mutation	SNP	A	TCGA-24-1849-01A-01W-0639-09	5644	53681787	80170108	56	14839											
RB1	5925	genome.wustl.edu	37	13	48955458	48955458	+	Frame_Shift_Del	DEL	C	C	-	rs4151539	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr13:48955458delC	ENST00000267163.4	+	17	1712	c.1574delC	c.(1573-1575)gccfs	p.A525fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	525	Domain A.|Pocket; binds T and E1A.		A -> G (in dbSNP:rs4151539). {ECO:0000269|Ref.7}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.K524fs*28(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AATTTAAAAGCCTTTGATTTT	0.313		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	13	GRCh37	CM030507	RB1	M	rs4151539						56	54	55					13																	48955458		2203	4300	6503	47853459	SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1574delC	13.37:g.48955458delC	ENSP00000267163:p.Ala525fs		47853459	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			-	48955458	C	-	48955458	7	5	264	1	0	1	0	1	0	0	0	0	13101	739	26	0	1640	0	RB1	13	48955458	Frame_Shift_Del	DEL	C	TCGA-24-1849-01A-01W-0639-09		48955458	66214420	57	14840											
TDRD3	81550	genome.wustl.edu	37	13	61041407	61041407	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr13:61041407C>T	ENST00000196169.3	+	5	898	c.110C>T	c.(109-111)tCa>tTa	p.S37L	TDRD3_ENST00000535286.1_Missense_Mutation_p.S130L|TDRD3_ENST00000377894.2_Missense_Mutation_p.S37L|TDRD3_ENST00000377881.2_Missense_Mutation_p.S37L	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	37					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GTTAAGCTCTCAGGCATTGTT	0.413																																					Colon(36;164 906 35820 50723)											0			13											154	145	148					13																	61041407		2203	4300	6503	59939408	SO:0001583	missense	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.110C>T	13.37:g.61041407C>T	ENSP00000196169:p.Ser37Leu		59939408	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389500	0.25118	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	D;D;D;D	0.93189	-3.17;-3.17;-3.17;-3.18	5.56	4.72	0.59763	.	0.153654	0.44902	N	0.000404	D	0.82568	0.5065	N	0.10760	0.04	0.31177	N	0.702567	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.74293	-0.3712	10	0.12430	T	0.62	-5.6664	8.9024	0.35503	0.0:0.7771:0.0:0.2229	.	130;37;37	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	L	37;37;37;130;37	ENSP00000196169:S37L;ENSP00000367113:S37L;ENSP00000367126:S37L;ENSP00000440190:S130L	ENSP00000196169:S37L	S	+	2	0	TDRD3	59939408	0.998000	0.40836	0.624000	0.29186	0.997000	0.91878	3.642000	0.54367	1.346000	0.45694	0.655000	0.94253	TCA		0.413	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		T	61041407	C	T	61041407	3	4	264	1	0	0	0	0	1	0	0	0	15732	838	29	2	407	2	TDRD3	13	61041407	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	12085949	61041407	54128471	58	14841											
GPC5	2262	genome.wustl.edu	37	13	92408576	92408576	+	Nonsense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr13:92408576C>G	ENST00000377067.3	+	5	1554	c.1182C>G	c.(1180-1182)taC>taG	p.Y394*	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	394					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTCGACTGTACAGGTCATTCT	0.368																																																0			13											118	115	116					13																	92408576		2203	4300	6503	91206577	SO:0001587	stop_gained	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1182C>G	13.37:g.92408576C>G	ENSP00000366267:p.Tyr394*		91206577	B2R726|O60436|Q9BX27	Nonsense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	38	6.966439	0.97967	.	.	ENSG00000179399	ENST00000377067	.	.	.	5.32	1.4	0.22301	.	0.318305	0.34460	N	0.003947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0862	8.1572	0.31176	0.0:0.6441:0.0:0.3559	.	.	.	.	X	394	.	ENSP00000366267:Y394X	Y	+	3	2	GPC5	91206577	0.883000	0.30277	0.487000	0.27428	0.921000	0.55340	0.405000	0.21015	-0.061000	0.13110	-0.324000	0.08512	TAC		0.368	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		G	92408576	C	G	92408576	4	3	264	1	0	0	0	0	0	1	0	0	6601	489	17	3	1200	3	GPC5	13	92408576	Nonsense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	31367169	92408576	22761302	59	14842											
SIX4	51804	genome.wustl.edu	37	14	61190097	61190097	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr14:61190097C>G	ENST00000216513.4	-	1	755	c.696G>C	c.(694-696)gaG>gaC	p.E232D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	232					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGCGCGACTTCTCCTTGAAAC	0.642																																																0			14											40	37	38					14																	61190097		2203	4300	6503	60259850	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.696G>C	14.37:g.61190097C>G	ENSP00000216513:p.Glu232Asp		60259850	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758273	0.69763	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.96200	-3.94	3.63	3.63	0.41609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.055265	0.64402	N	0.000001	D	0.94703	0.8291	L	0.41415	1.275	0.80722	D	1	P;B	0.43607	0.812;0.083	P;B	0.50617	0.646;0.414	D	0.95385	0.8476	10	0.72032	D	0.01	.	15.0803	0.72108	0.0:1.0:0.0:0.0	.	224;232	G3V2N2;Q9UIU6	.;SIX4_HUMAN	D	232;224	ENSP00000216513:E232D	ENSP00000216513:E232D	E	-	3	2	SIX4	60259850	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.713000	0.54882	1.849000	0.53698	0.650000	0.86243	GAG		0.642	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			G	61190097	C	G	61190097	3	3	264	1	0	0	0	0	1	0	0	0	14352	912	32	3	1661	3	SIX4	14	61190097	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09		61190097	46159443	60	14843											
TGM7	116179	genome.wustl.edu	37	15	43571977	43571977	+	Silent	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:43571977C>A	ENST00000452443.2	-	10	1528	c.1524G>T	c.(1522-1524)ctG>ctT	p.L508L		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	508					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TACGCAGCAGCAGCTGCAGGT	0.657																																																0			15											38	44	42					15																	43571977		2201	4297	6498	41359269	SO:0001819	synonymous_variant	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1524G>T	15.37:g.43571977C>A			41359269		Silent	SNP	ENST00000452443.2	37	CCDS32213.1																																																																																				0.657	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		A	43571977	C	A	43571977	2	1	264	1	0	0	0	0	0	0	0	1	15835	697	25	3		3	TGM7	15	43571977	Silent	SNP	C	TCGA-24-1849-01A-01W-0639-09		43571977	58959415	61	14844											
C15orf39	56905	genome.wustl.edu	37	15	75499119	75499119	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:75499119G>C	ENST00000360639.2	+	2	1050	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	C15orf39_ENST00000394987.4_Missense_Mutation_p.E244Q|C15orf39_ENST00000567617.1_Missense_Mutation_p.E244Q			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	244						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAATGTCTGAGGGGCCCTC	0.637																																																0			15											45	49	47					15																	75499119		2197	4295	6492	73286172	SO:0001583	missense	56905			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.730G>C	15.37:g.75499119G>C	ENSP00000353854:p.Glu244Gln		73286172	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	8.314	0.822854	0.16678	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.67171	-0.25;-0.25	4.23	3.32	0.38043	.	0.426572	0.22515	N	0.059049	T	0.64394	0.2594	L	0.60455	1.87	0.27481	N	0.952564	D	0.53619	0.961	P	0.47915	0.561	T	0.57130	-0.7864	10	0.33141	T	0.24	-20.4395	9.1364	0.36877	0.1036:0.0:0.8964:0.0	.	244	Q6ZRI6	CO039_HUMAN	Q	244	ENSP00000353854:E244Q;ENSP00000378438:E244Q	ENSP00000353854:E244Q	E	+	1	0	C15orf39	73286172	0.978000	0.34361	0.675000	0.29917	0.146000	0.21551	2.879000	0.48522	1.015000	0.39444	-0.379000	0.06801	GAG		0.637	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		C	75499119	G	C	75499119	3	2	264	1	0	0	0	0	1	0	0	0	1793	1291	45	3	732	3	C15orf39	15	75499119	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	31927142	75499119	27032273	62	14845											
C15orf39	56905	genome.wustl.edu	37	15	75499703	75499703	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:75499703G>C	ENST00000360639.2	+	2	1634	c.1314G>C	c.(1312-1314)gaG>gaC	p.E438D	C15orf39_ENST00000394987.4_Missense_Mutation_p.E438D|C15orf39_ENST00000567617.1_Missense_Mutation_p.E438D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	438						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AAGCCGAAGAGAAGACCTGGC	0.642																																																0			15											33	38	36					15																	75499703		2197	4295	6492	73286756	SO:0001583	missense	56905			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1314G>C	15.37:g.75499703G>C	ENSP00000353854:p.Glu438Asp		73286756	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788170	0.31593	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.69685	-0.42;-0.42	4.89	0.132	0.14762	.	0.363277	0.24458	N	0.038360	T	0.53367	0.1792	M	0.62723	1.935	0.09310	N	1	B	0.27229	0.172	B	0.20955	0.032	T	0.44360	-0.9333	10	0.44086	T	0.13	-21.031	3.4128	0.07365	0.0948:0.31:0.4367:0.1585	.	438	Q6ZRI6	CO039_HUMAN	D	438	ENSP00000353854:E438D;ENSP00000378438:E438D	ENSP00000353854:E438D	E	+	3	2	C15orf39	73286756	0.836000	0.29430	0.553000	0.28255	0.698000	0.40448	0.884000	0.28214	0.465000	0.27167	0.462000	0.41574	GAG		0.642	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		C	75499703	G	C	75499703	3	2	264	1	0	0	0	0	1	0	0	0	1793	933	33	3	1316	3	C15orf39	15	75499703	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	584	75499703	27031689	63	14846											
KIAA1024	23251	genome.wustl.edu	37	15	79748661	79748661	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:79748661C>T	ENST00000305428.3	+	2	247	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	58						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTGTCTCGATCCCAATTTTCC	0.453																																																0			15											103	99	100					15																	79748661		2196	4293	6489	77535716	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.172C>T	15.37:g.79748661C>T	ENSP00000307461:p.Pro58Ser		77535716	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200756	0.94997	.	.	ENSG00000169330	ENST00000305428	T	0.61510	0.1	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74447	-0.3662	9	.	.	.	.	20.2166	0.98299	0.0:1.0:0.0:0.0	.	58	Q9UPX6	K1024_HUMAN	S	58	ENSP00000307461:P58S	.	P	+	1	0	KIAA1024	77535716	1.000000	0.71417	0.922000	0.36590	0.985000	0.73830	7.124000	0.77185	2.781000	0.95711	0.591000	0.81541	CCC		0.453	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		T	79748661	C	T	79748661	3	4	264	1	0	0	0	0	1	0	0	0	8205	855	30	2	174	2	KIAA1024	15	79748661	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	4248958	79748661	22782731	64	14847											
SEMA4B	10509	genome.wustl.edu	37	15	90763119	90763119	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:90763119A>C	ENST00000411539.2	+	4	739	c.479A>C	c.(478-480)tAc>tCc	p.Y160S	SEMA4B_ENST00000379122.3_Missense_Mutation_p.Y155S|SEMA4B_ENST00000332496.6_Missense_Mutation_p.Y160S	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	155	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			N -> P (in Ref. 6; CAB98205). {ECO:0000305}.	cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ATGTGTACCTACATCGTGAGT	0.587											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			15											67	67	67					15																	90763119		2059	4179	6238	88564123	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.479A>C	15.37:g.90763119A>C	ENSP00000394720:p.Tyr160Ser	1277	88564123	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762514	0.49574	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.32023	1.47;1.47;1.47	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	M	0.72576	2.205	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.988	T	0.58842	-0.7565	10	0.87932	D	0	.	15.0383	0.71767	1.0:0.0:0.0:0.0	.	160;155	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	S	160;155;160	ENSP00000332204:Y160S;ENSP00000368417:Y155S;ENSP00000394720:Y160S	ENSP00000332204:Y160S	Y	+	2	0	SEMA4B	88564123	1.000000	0.71417	0.993000	0.49108	0.744000	0.42396	4.335000	0.59298	2.288000	0.76882	0.533000	0.62120	TAC		0.587	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		C	90763119	A	C	90763119	3	2	264	1	0	0	0	0	1	0	0	0	14035	391	14	5	493	5	SEMA4B	15	90763119	Missense_Mutation	SNP	A	TCGA-24-1849-01A-01W-0639-09	11014458	90763119	11768273	65	14848											
TP53	7157	genome.wustl.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:7579591C>T	ENST00000269305.4	-	4	286		c.e4-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	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						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.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(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)	GCAAGGGGGACTGTAGATGGG	0.592		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"	21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	bone(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|pancreas(3)|upper_aerodigestive_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	17	GRCh37	CS971912	TP53	S							141	137	138					17																	7579591		2203	4300	6503	7520316	SO:0001630	splice_region_variant	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.97-1G>A	17.37:g.7579591C>T			7520316	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	6.702	0.498192	0.12762	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.40380	D	0.979434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6143	0.33822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520316	0.879000	0.30193	0.021000	0.16686	0.027000	0.11550	1.937000	0.40193	1.730000	0.51580	0.561000	0.74099	.		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7579591	C	T	7579591	5	4	264	1	0	0	0	0	0	0	1	0	16381	579	20	2	1206	2	TP53	17	7579591	Splice_Site	SNP	C	TCGA-24-1849-01A-01W-0639-09		7579591	73615619	66	14849											
ALOX15B	247	genome.wustl.edu	37	17	7949991	7949991	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:7949991G>A	ENST00000380183.4	+	9	1345	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ALOX15B_ENST00000572022.1_Silent_p.L402L|ALOX15B_ENST00000380173.2_Intron|ALOX15B_ENST00000573359.1_Intron	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	402	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGCAGCTGCTGATCCCGCACA	0.622																																																0			17											52	47	49					17																	7949991		2203	4300	6503	7890716	SO:0001819	synonymous_variant	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1206G>A	17.37:g.7949991G>A			7890716	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	CCDS11128.1																																																																																				0.622	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			A	7949991	G	A	7949991	2	1	264	1	0	0	0	0	0	0	0	1	539	1277	45	2		2	ALOX15B	17	7949991	Silent	SNP	G	TCGA-24-1849-01A-01W-0639-09	370400	7949991	73245219	67	14850											
TMEM132E	124842	genome.wustl.edu	37	17	32964657	32964657	+	Silent	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:32964657C>T	ENST00000321639.5	+	10	2689	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	787						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCACCGGCTTCCTGCAGGTGC	0.687																																																0			17											42	44	43					17																	32964657		2203	4300	6503	29988770	SO:0001819	synonymous_variant	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2361C>T	17.37:g.32964657C>T			29988770	Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	CCDS11283.1																																																																																				0.687	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		T	32964657	C	T	32964657	2	4	264	1	0	0	0	0	0	0	0	1	16048	854	30	2		2	TMEM132E	17	32964657	Silent	SNP	C	TCGA-24-1849-01A-01W-0639-09	25014666	32964657	48230553	68	14851											
LRRC59	55379	genome.wustl.edu	37	17	48460424	48460424	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:48460424G>C	ENST00000225972.7	-	7	1084	c.849C>G	c.(847-849)atC>atG	p.I283M		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	283						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CATTGTCATAGATGGTGTTCA	0.617																																																0			17											80	65	70					17																	48460424		2203	4300	6503	45815423	SO:0001583	missense	55379			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.849C>G	17.37:g.48460424G>C	ENSP00000225972:p.Ile283Met		45815423	B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329708	0.41297	.	.	ENSG00000108829	ENST00000225972	T	0.44083	0.93	5.93	4.96	0.65561	.	0.582856	0.20278	N	0.095516	T	0.38585	0.1046	L	0.43152	1.355	0.80722	D	1	B	0.14438	0.01	B	0.15484	0.013	T	0.17107	-1.0380	10	0.52906	T	0.07	.	15.0539	0.71897	0.0:0.0:0.8581:0.1419	.	283	Q96AG4	LRC59_HUMAN	M	283	ENSP00000225972:I283M	ENSP00000225972:I283M	I	-	3	3	LRRC59	45815423	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.415000	0.44635	1.520000	0.48965	0.579000	0.79373	ATC		0.617	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		C	48460424	G	C	48460424	3	2	264	1	0	0	0	0	1	0	0	0	9015	932	33	3	78	3	LRRC59	17	48460424	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	15495767	48460424	32734786	69	14852											
OR4D1	26689	genome.wustl.edu	37	17	56233322	56233322	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:56233322G>A	ENST00000268912.5	+	1	829	c.808G>A	c.(808-810)Gct>Act	p.A270T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	270					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CATGGACAAGGCTGTGTCCAT	0.507																																																0			17											89	86	87					17																	56233322		2203	4300	6503	53588321	SO:0001583	missense	26689			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.808G>A	17.37:g.56233322G>A	ENSP00000365451:p.Ala270Thr		53588321	B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	g	14.48	2.549231	0.45383	.	.	ENSG00000141194	ENST00000268912	T	0.00145	8.67	5.63	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.096021	0.46145	N	0.000306	T	0.00144	0.0004	L	0.37697	1.125	0.33047	D	0.532209	B	0.21071	0.051	B	0.33799	0.17	T	0.25082	-1.0142	10	0.31617	T	0.26	-6.2966	10.0223	0.42051	0.1633:0.0:0.8367:0.0	.	270	Q15615	OR4D1_HUMAN	T	270	ENSP00000365451:A270T	ENSP00000365451:A270T	A	+	1	0	OR4D1	53588321	0.001000	0.12720	0.998000	0.56505	0.982000	0.71751	0.363000	0.20301	0.748000	0.32831	0.543000	0.68304	GCT		0.507	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			A	56233322	G	A	56233322	3	1	264	1	0	0	0	0	1	0	0	0	11053	1203	42	2	810	2	OR4D1	17	56233322	Missense_Mutation	SNP	G	TCGA-24-1849-01A-01W-0639-09	7772898	56233322	24961888	70	14853											
MARCH10	162333	genome.wustl.edu	37	17	60837260	60837260	+	Silent	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:60837260C>T	ENST00000311269.5	-	4	592	c.318G>A	c.(316-318)caG>caA	p.Q106Q	MARCH10_ENST00000456609.2_Silent_p.Q106Q|MARCH10_ENST00000583600.1_Silent_p.Q106Q|MARCH10_ENST00000544856.2_Silent_p.Q106Q	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	106					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTTTATGTTTCTGCTTGACTG	0.433																																																0			17											258	201	220					17																	60837260		2203	4300	6503	58190992	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.318G>A	17.37:g.60837260C>T			58190992	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	CCDS11635.1																																																																																				0.433	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		T	60837260	C	T	60837260	2	4	264	1	0	0	0	0	0	0	0	1	9299	912	32	2		2	MARCH10	17	60837260	Silent	SNP	C	TCGA-24-1849-01A-01W-0639-09	4603938	60837260	20357950	71	14854											
EXOC7	23265	genome.wustl.edu	37	17	74080162	74080162	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:74080162T>A	ENST00000335146.7	-	19	2083	c.2030A>T	c.(2029-2031)gAc>gTc	p.D677V	EXOC7_ENST00000589210.1_Missense_Mutation_p.D626V|EXOC7_ENST00000332065.5_Missense_Mutation_p.D595V|EXOC7_ENST00000411744.2_Missense_Mutation_p.D618V|EXOC7_ENST00000591724.1_5'Flank|EXOC7_ENST00000467929.2_Missense_Mutation_p.D598V|EXOC7_ENST00000405575.4_Missense_Mutation_p.D635V|EXOC7_ENST00000607838.1_Missense_Mutation_p.D649V			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	677					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGCTCTGTGTCTGGAATAGC	0.547																																																0			17											57	51	53					17																	74080162		2203	4299	6502	71591757	SO:0001583	missense	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.2030A>T	17.37:g.74080162T>A	ENSP00000334100:p.Asp677Val		71591757	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.044332	0.75732	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.28	5.28	0.74379	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;0.998;1.0;1.0;0.996;0.999	T	0.83308	-0.0024	9	0.87932	D	0	-29.9025	15.2203	0.73306	0.0:0.0:0.0:1.0	.	618;649;598;563;677;595;626	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	V	595;515;649;677;626;563;618	.	ENSP00000333806:D595V	D	-	2	0	EXOC7	71591757	1.000000	0.71417	0.895000	0.35142	0.722000	0.41435	7.843000	0.86859	2.000000	0.58554	0.449000	0.29647	GAC		0.547	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		A	74080162	T	A	74080162	3	1	264	1	0	0	0	0	1	0	0	0	5310	1667	58	5	185	5	EXOC7	17	74080162	Missense_Mutation	SNP	T	TCGA-24-1849-01A-01W-0639-09	13242902	74080162	7115048	72	14855											
USP36	57602	genome.wustl.edu	37	17	76817092	76817092	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:76817092T>C	ENST00000542802.3	-	8	1252	c.809A>G	c.(808-810)gAc>gGc	p.D270G	USP36_ENST00000449938.2_5'UTR|USP36_ENST00000312010.6_Missense_Mutation_p.D270G|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	270	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGCGCGACGTCCAAGTAGGG	0.587																																																0			17											74	54	61					17																	76817092		2203	4300	6503	74328687	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.809A>G	17.37:g.76817092T>C	ENSP00000441214:p.Asp270Gly		74328687	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632389	0.87660	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.06849	3.25;3.25	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43572	-0.9383	10	0.87932	D	0	-40.4927	14.5984	0.68422	0.0:0.0:0.0:1.0	.	270	Q9P275-2	.	G	270	ENSP00000310590:D270G;ENSP00000441214:D270G	ENSP00000310590:D270G	D	-	2	0	USP36	74328687	1.000000	0.71417	0.939000	0.37840	0.958000	0.62258	7.355000	0.79434	1.931000	0.55961	0.533000	0.62120	GAC		0.587	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		C	76817092	T	C	76817092	3	2	264	1	0	0	0	0	1	0	0	0	17067	1667	58	4	2614	4	USP36	17	76817092	Missense_Mutation	SNP	T	TCGA-24-1849-01A-01W-0639-09	2736930	76817092	4378118	73	14856											
CARD14	79092	genome.wustl.edu	37	17	78164600	78164600	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:78164600C>A	ENST00000573882.1	+	9	1527	c.991C>A	c.(991-993)Ctg>Atg	p.L331M	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.L94M|CARD14_ENST00000570421.1_Missense_Mutation_p.L331M|CARD14_ENST00000344227.2_Missense_Mutation_p.L331M			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	331					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACAGACCCTGCTGCAGTTCCA	0.587																																																0			17											91	84	86					17																	78164600		2203	4300	6503	75779195	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.991C>A	17.37:g.78164600C>A	ENSP00000458715:p.Leu331Met		75779195	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	c	14.65	2.599116	0.46318	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.37058	1.22;1.22	4.26	3.16	0.36331	.	0.171998	0.37393	N	0.002116	T	0.50171	0.1600	M	0.79693	2.465	0.09310	N	0.999997	D;D;D	0.76494	0.974;0.999;0.988	P;D;P	0.65010	0.598;0.931;0.758	T	0.50466	-0.8825	10	0.72032	D	0.01	-19.7579	0.9831	0.01440	0.2328:0.3817:0.226:0.1595	.	331;94;331	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	M	331;94;94	ENSP00000344549:L331M;ENSP00000376229:L94M	ENSP00000308507:L94M	L	+	1	2	CARD14	75779195	0.854000	0.29725	0.993000	0.49108	0.985000	0.73830	0.637000	0.24659	1.925000	0.55765	0.651000	0.88453	CTG		0.587	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			A	78164600	C	A	78164600	3	1	264	1	0	0	0	0	1	0	0	0	2646	796	28	3	1013	3	CARD14	17	78164600	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	1347508	78164600	3030610	74	14857											
ANKRD12	23253	genome.wustl.edu	37	18	9256100	9256100	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr18:9256100A>T	ENST00000262126.4	+	9	3075	c.2835A>T	c.(2833-2835)aaA>aaT	p.K945N	ANKRD12_ENST00000400020.3_Missense_Mutation_p.K922N|ANKRD12_ENST00000383440.2_Missense_Mutation_p.K922N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	945						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AATACAGTAAATCAGAAAAAG	0.299																																																0			18											23	24	24					18																	9256100		2163	4259	6422	9246100	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2835A>T	18.37:g.9256100A>T	ENSP00000262126:p.Lys945Asn		9246100	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998097	0.35226	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.42131	0.98;0.98	5.49	3.04	0.35103	.	0.098849	0.64402	D	0.000002	T	0.35595	0.0937	L	0.29908	0.895	0.38980	D	0.958921	P;P	0.47191	0.836;0.891	P;B	0.46758	0.526;0.439	T	0.19549	-1.0302	10	0.66056	D	0.02	-8.3477	9.55	0.39304	0.7328:0.0:0.2672:0.0	.	922;945	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	N	922;945	ENSP00000372932:K922N;ENSP00000262126:K945N	ENSP00000262126:K945N	K	+	3	2	ANKRD12	9246100	0.971000	0.33674	0.994000	0.49952	0.781000	0.44180	2.015000	0.40961	0.352000	0.24053	0.455000	0.32223	AAA		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		T	9256100	A	T	9256100	3	4	264	1	0	0	0	0	1	0	0	0	640	98	4	5	2865	5	ANKRD12	18	9256100	Missense_Mutation	SNP	A	TCGA-24-1849-01A-01W-0639-09		9256100	68821148	75	14858											
NETO1	81832	genome.wustl.edu	37	18	70417787	70417787	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr18:70417787A>C	ENST00000327305.6	-	9	1708	c.1051T>G	c.(1051-1053)Tgc>Ggc	p.C351G	RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.C351G|NETO1_ENST00000299430.2_Missense_Mutation_p.C350G	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	351					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATCACGATGCAGGAAGTCACG	0.453																																																0			18											85	65	72					18																	70417787		2203	4299	6502	68568767	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1051T>G	18.37:g.70417787A>C	ENSP00000313088:p.Cys351Gly		68568767	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	4.663	0.123302	0.08931	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.21734	1.99;2.0	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.14013	0.0339	N	0.20401	0.57	0.80722	D	1	B;B	0.24576	0.106;0.001	B;B	0.30782	0.12;0.002	T	0.03095	-1.1073	10	0.02654	T	1	-19.0976	15.3049	0.73985	1.0:0.0:0.0:0.0	.	350;351	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	G	351;350	ENSP00000313088:C351G;ENSP00000299430:C350G	ENSP00000299430:C350G	C	-	1	0	NETO1	68568767	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.972000	0.63756	2.069000	0.61940	0.374000	0.22700	TGC		0.453	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		C	70417787	A	C	70417787	3	2	264	1	0	0	0	0	1	0	0	0	10339	188	7	5	558	5	NETO1	18	70417787	Missense_Mutation	SNP	A	TCGA-24-1849-01A-01W-0639-09	61161687	70417787	7659461	76	14859											
ATG4D	84971	genome.wustl.edu	37	19	10662596	10662596	+	Missense_Mutation	SNP	C	C	G	rs372453420		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr19:10662596C>G	ENST00000309469.4	+	7	1163	c.990C>G	c.(988-990)tgC>tgG	p.C330W	ATG4D_ENST00000540862.1_5'UTR|MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	330					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCGAGCTGTGCCTGGGCATCA	0.617																																																0			19											74	68	70					19																	10662596		2203	4300	6503	10523596	SO:0001583	missense	84971			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.990C>G	19.37:g.10662596C>G	ENSP00000311318:p.Cys330Trp		10523596	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099269	0.56183	.	.	ENSG00000130734	ENST00000309469	T	0.46063	0.88	5.17	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65651	-0.6116	10	0.66056	D	0.02	-14.041	8.2512	0.31724	0.0:0.7498:0.0:0.2502	.	267;330	B4DGM8;Q86TL0	.;ATG4D_HUMAN	W	330	ENSP00000311318:C330W	ENSP00000311318:C330W	C	+	3	2	ATG4D	10523596	0.947000	0.32204	1.000000	0.80357	0.801000	0.45260	0.393000	0.20817	0.697000	0.31718	-0.140000	0.14226	TGC		0.617	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		G	10662596	C	G	10662596	3	3	264	1	0	0	0	0	1	0	0	0	1099	747	26	3	1016	3	ATG4D	19	10662596	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09		10662596	48466387	77	14860											
BRD4	23476	genome.wustl.edu	37	19	15349880	15349880	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr19:15349880C>G	ENST00000263377.2	-	18	3993	c.3772G>C	c.(3772-3774)Gag>Cag	p.E1258Q		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1258	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTCATGCGCTCCTGCCGCAGC	0.687			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0			19											12	17	15					19																	15349880		2190	4284	6474	15210880	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3772G>C	19.37:g.15349880C>G	ENSP00000263377:p.Glu1258Gln		15210880	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	c	15.39	2.818330	0.50633	.	.	ENSG00000141867	ENST00000263377	T	0.32515	1.45	4.87	4.87	0.63330	.	0.000000	0.53938	D	0.000053	T	0.52370	0.1730	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.53648	-0.8409	10	0.54805	T	0.06	-28.0191	16.8272	0.85934	0.0:1.0:0.0:0.0	.	1258	O60885	BRD4_HUMAN	Q	1258	ENSP00000263377:E1258Q	ENSP00000263377:E1258Q	E	-	1	0	BRD4	15210880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.420000	0.66441	2.233000	0.73108	0.550000	0.68814	GAG		0.687	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		G	15349880	C	G	15349880	3	3	264	1	0	0	0	0	1	0	0	0	1504	864	30	3	328	3	BRD4	19	15349880	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09	4687284	15349880	43779103	78	14861											
NUMBL	9253	genome.wustl.edu	37	19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-	rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	TGCTGT	TGCTGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501															0			19																																								45865738	SO:0001651	inframe_deletion	9253			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del		45865733	Q7Z4J9	In_Frame_Del	DEL	ENST00000252891.4	37	CCDS12561.1																																																																																				0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		-	41173898	TGCTGT	-	41173893	7	5	264	1	0	1	0	1	0	0	0	0	10752	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-24-1849-01A-01W-0639-09	25824013	41173893	17955090	79	14862											
ZNF701	55762	genome.wustl.edu	37	19	53086335	53086335	+	Silent	SNP	T	T	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr19:53086335T>C	ENST00000540331.1	+	5	1446	c.1221T>C	c.(1219-1221)ctT>ctC	p.L407L	ZNF701_ENST00000301093.2_Silent_p.L407L|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Silent_p.L341L	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATCACACCTTGAAAGACATA	0.393																																					NSCLC(89;451 1475 9611 20673 52284)											0			19											88	90	89					19																	53086335		2203	4300	6503	57778147	SO:0001819	synonymous_variant	55762			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1221T>C	19.37:g.53086335T>C			57778147	A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	ENST00000540331.1	37	CCDS54311.1																																																																																				0.393	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		C	53086335	T	C	53086335	2	2	264	1	0	0	0	0	0	0	0	1	18105	1799	63	4		4	ZNF701	19	53086335	Silent	SNP	T	TCGA-24-1849-01A-01W-0639-09	11912442	53086335	6042648	80	14863											
HCK	3055	genome.wustl.edu	37	20	30689240	30689240	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr20:30689240A>T	ENST00000520553.1	+	13	1682	c.1436A>T	c.(1435-1437)gAg>gTg	p.E479V	HCK_ENST00000538448.1_Missense_Mutation_p.E479V|HCK_ENST00000375862.2_Missense_Mutation_p.E499V|HCK_ENST00000375852.2_Missense_Mutation_p.E500V|HCK_ENST00000518730.1_Missense_Mutation_p.E478V|HCK_ENST00000534862.1_Missense_Mutation_p.E480V	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CGTCCGGAGGAGCGGCCGACC	0.582																																																0			20											57	48	52					20																	30689240		2203	4300	6503	30152901	SO:0001583	missense	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1436A>T	20.37:g.30689240A>T	ENSP00000429848:p.Glu479Val		30152901	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416769	0.83449	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.9	4.9	0.64082	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.186637	0.44285	D	0.000479	D	0.84202	0.5420	M	0.67700	2.07	0.41127	D	0.985856	P;P	0.41265	0.566;0.744	B;P	0.44673	0.426;0.457	D	0.86749	0.1959	10	0.87932	D	0	.	13.8659	0.63588	1.0:0.0:0.0:0.0	.	478;500	P08631-3;P08631	.;HCK_HUMAN	V	480;479;499;479;478;500	ENSP00000444986:E480V;ENSP00000441169:E479V;ENSP00000365022:E499V;ENSP00000429848:E479V;ENSP00000427757:E478V;ENSP00000365012:E500V	ENSP00000365012:E500V	E	+	2	0	HCK	30152901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.236000	0.78154	2.070000	0.61991	0.459000	0.35465	GAG		0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			T	30689240	A	T	30689240	3	4	264	1	0	0	0	0	1	0	0	0	6994	304	11	5	1555	5	HCK	20	30689240	Missense_Mutation	SNP	A	TCGA-24-1849-01A-01W-0639-09		30689240	32336280	81	14864											
HLCS	3141	genome.wustl.edu	37	21	38309123	38309123	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr21:38309123C>G	ENST00000399120.1	-	5	1852	c.622G>C	c.(622-624)Gac>Cac	p.D208H	HLCS_ENST00000336648.4_Missense_Mutation_p.D208H	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	208					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GTCCACGGGTCTCTGAGAGCA	0.562																																																0			21											70	73	72					21																	38309123		2203	4300	6503	37230993	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.622G>C	21.37:g.38309123C>G	ENSP00000382071:p.Asp208His		37230993	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671728	0.47781	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98221	-4.8;-4.8	5.91	5.91	0.95273	.	0.197529	0.53938	D	0.000059	D	0.96849	0.8971	M	0.70595	2.14	0.58432	D	0.999993	P;P	0.41546	0.754;0.584	B;B	0.30646	0.118;0.116	D	0.96516	0.9382	10	0.39692	T	0.17	.	19.8936	0.96942	0.0:1.0:0.0:0.0	.	208;208	B2RAH1;P50747	.;BPL1_HUMAN	H	208	ENSP00000382071:D208H;ENSP00000338387:D208H	ENSP00000338387:D208H	D	-	1	0	HLCS	37230993	0.998000	0.40836	0.974000	0.42286	0.075000	0.17131	5.595000	0.67563	2.793000	0.96121	0.655000	0.94253	GAC		0.562	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			G	38309123	C	G	38309123	3	3	264	1	0	0	0	0	1	0	0	0	7213	913	32	3	1590	3	HLCS	21	38309123	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09		38309123	9820772	82	14865											
CRYBB1	1414	genome.wustl.edu	37	22	27008019	27008034	+	Splice_Site	DEL	CGCCGCCCAGTACTCA	CGCCGCCCAGTACTCA	-	rs371689083|rs57400078|rs116534812|rs372289191|rs200687318	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	CGCCGCCCAGTACTCA	CGCCGCCCAGTACTCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr22:27008019_27008034delCGCCGCCCAGTACTCA	ENST00000215939.2	-	3	430		c.e3+1			NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1						visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGTGCCCCTCCGCCGCCCAGTACTCACGGTCCCGCG	0.593																																																0			22																																								25338034	SO:0001630	splice_region_variant	1414				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.299+1TGAGTACTGGGCGGCG>-	22.37:g.27008019_27008034delCGCCGCCCAGTACTCA			25338019		Splice_Site	DEL	ENST00000215939.2	37	CCDS13840.1																																																																																				0.593	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887	Intron	-	27008034	CGCCGCCCAGTACTCA	-	27008019	8	5	264	1	0	1	0	1	0	0	1	0	3910	667	23	0		0	CRYBB1	22	27008019	Splice_Site	DEL	CGCCGCCCAGTACTCA	TCGA-24-1849-01A-01W-0639-09		27008019	24296547	83	14866											
TTLL12	23170	genome.wustl.edu	37	22	43570280	43570280	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr22:43570280G>A	ENST00000216129.6	-	8	1227	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	TTLL12_ENST00000484118.1_5'Flank|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	388	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGAAGGTTCGGGGCAGCCAGG	0.647																																																0			22											66	72	70					22																	43570280		2203	4297	6500	41900224	SO:0001819	synonymous_variant	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1164C>T	22.37:g.43570280G>A			41900224	Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	CCDS14047.1																																																																																				0.647	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		A	43570280	G	A	43570280	2	1	264	1	0	0	0	0	0	0	0	1	16725	1219	43	2		2	TTLL12	22	43570280	Silent	SNP	G	TCGA-24-1849-01A-01W-0639-09	16562261	43570280	7734286	84	14867											
BTK	695	genome.wustl.edu	37	X	100617578	100617578	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chrX:100617578C>G	ENST00000308731.7	-	6	654	c.491G>C	c.(490-492)gGc>gCc	p.G164A	BTK_ENST00000372880.1_Missense_Mutation_p.G164A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	164					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AATTTGGCAGCCCATAGCATT	0.443									Agammaglobulinemia, X-linked																																							0			X											136	123	127					X																	100617578		2203	4300	6503	100504234	SO:0001583	missense	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.491G>C	X.37:g.100617578C>G	ENSP00000308176:p.Gly164Ala		100504234	B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832913	0.91036	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.99947	-8.64;-8.64	5.49	5.49	0.81192	Pleckstrin homology-type (1);Zinc finger, Btk motif (4);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.95629	0.8688	10	0.54805	T	0.06	.	18.4742	0.90786	0.0:1.0:0.0:0.0	.	164;164;164	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	A	164	ENSP00000361971:G164A;ENSP00000308176:G164A	ENSP00000308176:G164A	G	-	2	0	BTK	100504234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.475000	0.81041	2.305000	0.77605	0.529000	0.55759	GGC		0.443	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		G	100617578	C	G	100617578	3	3	264	1	0	0	0	0	1	0	0	0	1557	739	26	3	1544	3	BTK	23	100617578	Missense_Mutation	SNP	C	TCGA-24-1849-01A-01W-0639-09		100617578	54652982	85	14868											
LPHN2	23266	genome.wustl.edu	37	1	82372824	82372824	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr1:82372824C>G	ENST00000370728.1	+	6	841	c.196C>G	c.(196-198)Cgg>Ggg	p.R66G	LPHN2_ENST00000394879.1_Missense_Mutation_p.R66G|LPHN2_ENST00000319517.6_Missense_Mutation_p.R66G|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.R66G|LPHN2_ENST00000370717.2_Missense_Mutation_p.R66G|LPHN2_ENST00000271029.4_Missense_Mutation_p.R66G|LPHN2_ENST00000370723.1_Missense_Mutation_p.R66G|LPHN2_ENST00000370730.1_Missense_Mutation_p.R66G|LPHN2_ENST00000370713.1_Missense_Mutation_p.R66G|LPHN2_ENST00000359929.3_Missense_Mutation_p.R66G|LPHN2_ENST00000335786.5_Missense_Mutation_p.R66G|LPHN2_ENST00000370721.1_Missense_Mutation_p.R66G|LPHN2_ENST00000370727.1_Missense_Mutation_p.R66G|LPHN2_ENST00000370715.1_Missense_Mutation_p.R66G			O95490	LPHN2_HUMAN	latrophilin 2	66	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAACTATGGTCGGACGGATGA	0.448																																																0			1											166	152	157					1																	82372824		2203	4300	6503	82145412	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.196C>G	1.37:g.82372824C>G	ENSP00000359763:p.Arg66Gly		82145412	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.205925	0.79127	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.1	3.06	0.35304	.	0.000000	0.64402	D	0.000001	T	0.52451	0.1735	H	0.97291	3.975	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.71856	-0.4466	10	0.87932	D	0	.	13.7013	0.62611	0.2805:0.7195:0.0:0.0	.	66;66;66;66	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	G	66	ENSP00000359756:R66G;ENSP00000359763:R66G;ENSP00000359765:R66G;ENSP00000359762:R66G;ENSP00000359760:R66G;ENSP00000359758:R66G;ENSP00000353006:R66G;ENSP00000359750:R66G;ENSP00000359748:R66G;ENSP00000322270:R66G;ENSP00000359752:R66G;ENSP00000378344:R66G;ENSP00000271029:R66G;ENSP00000337306:R66G	ENSP00000271029:R66G	R	+	1	2	LPHN2	82145412	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.506000	0.35747	1.249000	0.43950	0.557000	0.71058	CGG		0.448	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		G	82372824	C	G	82372824	3	3	265	1	0	0	0	0	1	0	0	0	8916	875	31	3	202	3	LPHN2	1	82372824	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09		82372824	166877797	1	14869											
CLCC1	23155	genome.wustl.edu	37	1	109490286	109490286	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr1:109490286C>T	ENST00000369971.2	-	4	415	c.286G>A	c.(286-288)Gtt>Att	p.V96I	CLCC1_ENST00000348264.2_Missense_Mutation_p.V96I|CLCC1_ENST00000369970.3_Missense_Mutation_p.V96I|CLCC1_ENST00000415331.1_Missense_Mutation_p.V96I|CLCC1_ENST00000302500.4_Missense_Mutation_p.V96I|CLCC1_ENST00000356970.2_Missense_Mutation_p.V96I|CLCC1_ENST00000369976.1_Missense_Mutation_p.V96I|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.V96I|CLCC1_ENST00000369969.2_Missense_Mutation_p.V96I	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	96						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTCCTAAAAACAGGATTGCTT	0.303																																																0			1											95	94	94					1																	109490286		2202	4298	6500	109291809	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.286G>A	1.37:g.109490286C>T	ENSP00000358988:p.Val96Ile		109291809	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.418241	0.42918	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369976;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.61	5.61	0.85477	.	0.289830	0.32640	N	0.005832	T	0.25382	0.0617	L	0.42581	1.335	0.19575	N	0.999961	B;P;P;P	0.46784	0.0;0.884;0.68;0.549	B;P;B;B	0.45610	0.002;0.487;0.136;0.161	T	0.11616	-1.0580	10	0.48119	T	0.1	-29.3265	10.1583	0.42836	0.0:0.8475:0.0:0.1525	.	96;96;96;96	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	I	96	ENSP00000349456:V96I;ENSP00000358988:V96I;ENSP00000411591:V96I;ENSP00000358986:V96I;ENSP00000358985:V96I;ENSP00000358993:V96I;ENSP00000358987:V96I;ENSP00000337243:V96I;ENSP00000306552:V96I	ENSP00000306552:V96I	V	-	1	0	CLCC1	109291809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.247000	0.51422	2.793000	0.96121	0.655000	0.94253	GTT		0.303	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		T	109490286	C	T	109490286	3	4	265	1	0	0	0	0	1	0	0	0	3460	478	17	2	1401	2	CLCC1	1	109490286	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	27117462	109490286	139760335	2	14870											
HRNR	388697	genome.wustl.edu	37	1	152191308	152191308	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr1:152191308C>G	ENST00000368801.2	-	3	2872	c.2797G>C	c.(2797-2799)Ggt>Cgt	p.G933R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	933					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTGTGACCAAAGCCAGAA	0.592																																																0			1											221	229	227					1																	152191308		2203	4300	6503	150457932	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2797G>C	1.37:g.152191308C>G	ENSP00000357791:p.Gly933Arg		150457932	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	5.570	0.289952	0.10567	.	.	ENSG00000197915	ENST00000368801	T	0.01613	4.73	3.07	0.992	0.19819	.	.	.	.	.	T	0.00608	0.0020	L	0.48642	1.525	0.09310	N	1	B	0.23490	0.086	B	0.25759	0.063	T	0.45175	-0.9279	9	0.20519	T	0.43	.	5.2928	0.15737	0.0:0.6591:0.2109:0.13	.	933	Q86YZ3	HORN_HUMAN	R	933	ENSP00000357791:G933R	ENSP00000357791:G933R	G	-	1	0	HRNR	150457932	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.685000	0.05167	0.021000	0.15133	0.505000	0.49811	GGT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152191308	C	G	152191308	3	3	265	1	0	0	0	0	1	0	0	0	7359	594	21	3	5759	3	HRNR	1	152191308	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	42701022	152191308	97059313	3	14871											
FLG	2312	genome.wustl.edu	37	1	152282587	152282587	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr1:152282587G>T	ENST00000368799.1	-	3	4810	c.4775C>A	c.(4774-4776)tCc>tAc	p.S1592Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1592	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTAACACTGGATCCCTGGCG	0.587									Ichthyosis																																							0			1											154	165	161					1																	152282587		2203	4300	6503	150549211	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4775C>A	1.37:g.152282587G>T	ENSP00000357789:p.Ser1592Tyr		150549211	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.387	1.074595	0.20227	.	.	ENSG00000143631	ENST00000368799	T	0.09073	3.02	3.15	1.19	0.21007	.	.	.	.	.	T	0.04998	0.0134	M	0.83312	2.635	0.09310	N	1	B	0.18610	0.029	B	0.17098	0.017	T	0.30119	-0.9989	9	0.66056	D	0.02	.	7.9654	0.30095	0.0:0.0:0.5572:0.4428	.	1592	P20930	FILA_HUMAN	Y	1592	ENSP00000357789:S1592Y	ENSP00000357789:S1592Y	S	-	2	0	FLG	150549211	0.034000	0.19679	0.001000	0.08648	0.005000	0.04900	1.059000	0.30517	0.179000	0.19938	-0.346000	0.07831	TCC		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152282587	G	T	152282587	3	4	265	1	0	0	0	0	1	0	0	0	5922	1174	41	3	7414	3	FLG	1	152282587	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	91279	152282587	96968034	4	14872											
ARHGEF11	9826	genome.wustl.edu	37	1	156911714	156911714	+	Missense_Mutation	SNP	C	C	T	rs143001729	byFrequency	TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr1:156911714C>T	ENST00000361409.2	-	33	4016	c.3274G>A	c.(3274-3276)Gtc>Atc	p.V1092I	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.V508I|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.V1132I|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1092					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAGGATGGACGGGCATTGGG	0.652																																																0			1						C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	50	59	56		3274,3394	-9.2	0	1	dbSNP_134	56	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense	ARHGEF11	NM_014784.2,NM_198236.1	29,29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign	1092/1523,1132/1563	156911714	4,13002	2203	4300	6503	155178338	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3274G>A	1.37:g.156911714C>T	ENSP00000354644:p.Val1092Ile		155178338	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530478	0.27387	0.0	4.65E-4	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.65732	-0.17;-0.17;-0.07	4.58	-9.17	0.00691	.	2.099760	0.02053	N	0.050176	T	0.19366	0.0465	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.06826	-1.0805	10	0.34782	T	0.22	0.4135	15.2843	0.73816	0.0:0.5903:0.0:0.4097	.	508;1092;1132	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	I	1132;1092;508	ENSP00000357177:V1132I;ENSP00000354644:V1092I;ENSP00000313470:V508I	ENSP00000313470:V508I	V	-	1	0	ARHGEF11	155178338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.222000	0.00551	-1.650000	0.01506	-1.587000	0.00848	GTC		0.652	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		T	156911714	C	T	156911714	3	4	265	1	0	0	0	0	1	0	0	0	896	536	19	1	1326	1	ARHGEF11	1	156911714	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	4629127	156911714	92338907	5	14873											
LAMC1	3915	genome.wustl.edu	37	1	183072551	183072551	+	Missense_Mutation	SNP	C	C	G	rs144662217	byFrequency	TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr1:183072551C>G	ENST00000258341.4	+	2	764	c.507C>G	c.(505-507)gaC>gaG	p.D169E		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	169	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CACGGGAAGACGGGCCCTGGA	0.552																																																0			1											93	92	93					1																	183072551		2203	4300	6503	181339174	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.507C>G	1.37:g.183072551C>G	ENSP00000258341:p.Asp169Glu		181339174	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	c	13.85	2.359640	0.41801	.	.	ENSG00000135862	ENST00000258341	T	0.81078	-1.45	5.34	-10.7	0.00240	Laminin, N-terminal (3);	0.155161	0.56097	N	0.000035	T	0.72661	0.3488	M	0.72894	2.215	0.37272	D	0.907442	B;B	0.27498	0.002;0.18	B;B	0.32211	0.013;0.142	T	0.65368	-0.6185	10	0.54805	T	0.06	.	10.9769	0.47472	0.0:0.3679:0.1445:0.4876	.	169;169	P11047;Q6NVY8	LAMC1_HUMAN;.	E	169	ENSP00000258341:D169E	ENSP00000258341:D169E	D	+	3	2	LAMC1	181339174	0.000000	0.05858	0.043000	0.18650	0.367000	0.29736	-3.752000	0.00375	-3.519000	0.00148	-2.513000	0.00187	GAC		0.552	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		G	183072551	C	G	183072551	3	3	265	1	0	0	0	0	1	0	0	0	8614	535	19	3	513	3	LAMC1	1	183072551	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	26160837	183072551	66178070	6	14874											
CACNA1S	779	genome.wustl.edu	37	1	201022697	201022697	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr1:201022697G>C	ENST00000362061.3	-	30	3911	c.3685C>G	c.(3685-3687)Cgc>Ggc	p.R1229G	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1210G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1229					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGAGATGCGGGCACTCTCA	0.642																																																0			1											45	46	46					1																	201022697		2203	4300	6503	199289320	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3685C>G	1.37:g.201022697G>C	ENSP00000355192:p.Arg1229Gly		199289320	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.162088	0.38217	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98280	-4.84;-4.23	4.05	4.05	0.47172	Ion transport (1);	0.301529	0.33023	N	0.005376	D	0.97461	0.9169	L	0.39085	1.19	0.42100	D	0.991336	P	0.47545	0.897	P	0.54210	0.745	D	0.98188	1.0461	10	0.54805	T	0.06	.	16.8345	0.85953	0.0:0.0:1.0:0.0	.	1229	Q13698	CAC1S_HUMAN	G	1229;1210	ENSP00000355192:R1229G;ENSP00000356307:R1210G	ENSP00000355192:R1229G	R	-	1	0	CACNA1S	199289320	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.292000	0.51772	2.265000	0.75225	0.586000	0.80456	CGC		0.642	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		C	201022697	G	C	201022697	3	2	265	1	0	0	0	0	1	0	0	0	2547	1116	39	3	1996	3	CACNA1S	1	201022697	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	17950146	201022697	48227924	7	14875											
OR2T2	401992	genome.wustl.edu	37	1	248617010	248617010	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr1:248617010A>T	ENST00000342927.3	+	1	934	c.912A>T	c.(910-912)aaA>aaT	p.K304N		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTGAGGAAAGTACTAGGGA	0.527																																																0			1											24	26	25					1																	248617010		2187	4264	6451	246683633	SO:0001583	missense	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.912A>T	1.37:g.248617010A>T	ENSP00000343062:p.Lys304Asn		246683633	B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	a	10.97	1.500384	0.26861	.	.	ENSG00000196240	ENST00000342927	T	0.41065	1.01	3.33	-1.98	0.07480	.	0.136004	0.33180	N	0.005192	T	0.35335	0.0928	L	0.42686	1.345	0.09310	N	1	P	0.48089	0.905	P	0.46758	0.526	T	0.36866	-0.9730	10	0.87932	D	0	.	8.9139	0.35570	0.4177:0.0:0.5823:0.0	.	304	Q6IF00	OR2T2_HUMAN	N	304	ENSP00000343062:K304N	ENSP00000343062:K304N	K	+	3	2	OR2T2	246683633	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.320000	0.08028	-0.317000	0.08677	0.369000	0.22263	AAA		0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248617010	A	T	248617010	3	4	265	1	0	0	0	0	1	0	0	0	11020	69	3	5	914	5	OR2T2	1	248617010	Missense_Mutation	SNP	A	TCGA-24-1850-01A-01W-0639-09	47594313	248617010	633611	8	14876											
ACP1	52	genome.wustl.edu	37	2	272227	272227	+	Intron	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:272227C>T	ENST00000272065.5	+	3	324				ACP1_ENST00000407983.3_Missense_Mutation_p.T103M|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000405233.1_Missense_Mutation_p.T61M|ACP1_ENST00000272067.6_Silent_p.N51N|ACP1_ENST00000439645.2_Silent_p.N51N	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble							cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	CTGACTGGAACGTGGGCCGGT	0.522																																																0			2											141	116	124					2																	272227		2203	4300	6503	262227	SO:0001627	intron_variant	52			M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.231+77C>T	2.37:g.272227C>T			262227	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638079	0.47153	.	.	ENSG00000143727	ENST00000407983;ENST00000405233;ENST00000449425	T;T	0.50001	0.87;0.76	5.87	3.84	0.44239	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.25996	N	0.982183	B	0.30709	0.291	B	0.13407	0.009	T	0.18461	-1.0336	8	0.56958	D	0.05	-26.7427	5.3835	0.16204	0.0:0.6713:0.0:0.3287	.	103	B5MCC7	.	M	103;61;61	ENSP00000385404:T103M;ENSP00000384307:T61M	ENSP00000384307:T61M	T	+	2	0	ACP1	262227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.121000	0.31283	1.487000	0.48415	0.655000	0.94253	ACG		0.522	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			T	272227	C	T	272227	1	4	265	0	1	0	0	0	0	0	0	0	162	536	19	1		1	ACP1	2	272227	Intron	SNP	C	TCGA-24-1850-01A-01W-0639-09		272227	242927146	9	14877											
NBAS	51594	genome.wustl.edu	37	2	15601357	15601357	+	Silent	SNP	T	T	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:15601357T>G	ENST00000281513.5	-	21	2332	c.2307A>C	c.(2305-2307)ccA>ccC	p.P769P	NBAS_ENST00000441750.1_Silent_p.P769P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	769					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATATTCATGTGGAGAAGTGG	0.388																																																0			2											96	98	97					2																	15601357		2203	4300	6503	15518808	SO:0001819	synonymous_variant	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2307A>C	2.37:g.15601357T>G			15518808	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	CCDS1685.1																																																																																				0.388	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		G	15601357	T	G	15601357	2	3	265	1	0	0	0	0	0	0	0	1	10186	1683	59	5		5	NBAS	2	15601357	Silent	SNP	T	TCGA-24-1850-01A-01W-0639-09	15329130	15601357	227598016	10	14878											
ATL2	64225	genome.wustl.edu	37	2	38523698	38523698	+	Intron	SNP	C	C	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:38523698C>G	ENST00000378954.4	-	13	1634				ATL2_ENST00000402054.1_Intron|ATL2_ENST00000546051.1_Missense_Mutation_p.R390P|ATL2_ENST00000332337.4_Missense_Mutation_p.R543P|ATL2_ENST00000539122.1_Intron|ATL2_ENST00000406122.1_Missense_Mutation_p.R390P|ATL2_ENST00000452935.2_Intron|ATL2_ENST00000419554.2_Missense_Mutation_p.R556P	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGAACCATTCGACGTCTAGT	0.373																																																0			2											86	78	81					2																	38523698		2203	4300	6503	38377202	SO:0001627	intron_variant	64225				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1633-443G>C	2.37:g.38523698C>G			38377202	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069160	0.36470	.	.	ENSG00000119787	ENST00000406122;ENST00000332337;ENST00000419554;ENST00000546051	D;D;D;D	0.94280	-3.39;-1.59;-2.88;-3.39	5.23	5.23	0.72850	.	.	.	.	.	D	0.91751	0.7391	L	0.50333	1.59	0.30695	N	0.750951	P;B;B	0.47409	0.895;0.305;0.451	B;B;B	0.41271	0.352;0.333;0.124	D	0.90869	0.4744	9	0.51188	T	0.08	.	18.1463	0.89656	0.0:1.0:0.0:0.0	.	390;543;556	B5MCN0;Q8NHH9-4;Q8NHH9-2	.;.;.	P	390;543;556;390	ENSP00000385446:R390P;ENSP00000333393:R543P;ENSP00000415336:R556P;ENSP00000438938:R390P	ENSP00000333393:R543P	R	-	2	0	ATL2	38377202	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.166000	0.58203	2.591000	0.87537	0.563000	0.77884	CGA		0.373	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		G	38523698	C	G	38523698	1	3	265	0	1	0	0	0	0	0	0	0	1107	884	31	3		3	ATL2	2	38523698	Intron	SNP	C	TCGA-24-1850-01A-01W-0639-09	22922341	38523698	204675675	11	14879											
SLC8A1	6546	genome.wustl.edu	37	2	40656977	40656977	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:40656977C>A	ENST00000403092.1	-	2	477	c.444G>T	c.(442-444)gaG>gaT	p.E148D	SLC8A1_ENST00000406391.2_Missense_Mutation_p.E148D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E148D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E148D|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E148D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E148D|SLC8A1_ENST00000406785.2_Missense_Mutation_p.E148D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E148D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E148D|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E148D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	148					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAAGGAGAATCTCAGGAGCAG	0.468																																																0			2											127	117	120					2																	40656977		2203	4300	6503	40510481	SO:0001583	missense	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.444G>T	2.37:g.40656977C>A	ENSP00000384763:p.Glu148Asp		40510481	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756586	0.49362	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.59	3.8	0.43715	Sodium/calcium exchanger membrane region (1);	0.048392	0.85682	D	0.000000	D	0.84795	0.5551	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.988;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.992;1.0;1.0;1.0	D	0.84502	0.0617	10	0.87932	D	0	.	7.5544	0.27817	0.0:0.7416:0.0:0.2584	.	148;148;148;148;148	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	D	148	ENSP00000383886:E148D;ENSP00000440727:E148D;ENSP00000384763:E148D;ENSP00000385678:E148D;ENSP00000385188:E148D;ENSP00000385535:E148D;ENSP00000332931:E148D;ENSP00000384908:E148D;ENSP00000385811:E148D;ENSP00000443515:E148D	ENSP00000332931:E148D	E	-	3	2	SLC8A1	40510481	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	0.814000	0.27239	0.734000	0.32515	0.563000	0.77884	GAG		0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		A	40656977	C	A	40656977	3	1	265	1	0	0	0	0	1	0	0	0	14709	912	32	3	2625	3	SLC8A1	2	40656977	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	2133279	40656977	202542396	12	14880											
CCDC104	112942	genome.wustl.edu	37	2	55750902	55750902	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:55750902G>A	ENST00000349456.4	+	3	374	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	CCDC104_ENST00000407816.3_Missense_Mutation_p.E76K|CCDC104_ENST00000403007.3_Missense_Mutation_p.E76K|CCDC104_ENST00000339012.3_Missense_Mutation_p.E101K|CCDC104_ENST00000406691.3_Missense_Mutation_p.E76K			Q96G28	CFA36_HUMAN		76										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGAATTAATGAAGATCAATT	0.303																																																0			2											98	93	95					2																	55750902		2203	4300	6503	55604406	SO:0001583	missense	112942																														ENST00000349456.4:c.226G>A	2.37:g.55750902G>A	ENSP00000295117:p.Glu76Lys		55604406	Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	33	5.211386	0.95069	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.7	5.7	0.88788	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.044386	0.85682	D	0.000000	T	0.64538	0.2607	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.983;0.994	T	0.64050	-0.6498	10	0.59425	D	0.04	.	19.8389	0.96675	0.0:0.0:1.0:0.0	.	76;101	Q96G28;Q96G28-2	CC104_HUMAN;.	K	101;76;76;76;76	ENSP00000342699:E101K;ENSP00000385400:E76K;ENSP00000295117:E76K;ENSP00000385376:E76K;ENSP00000385972:E76K	ENSP00000342699:E101K	E	+	1	0	CCDC104	55604406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.703000	0.92315	0.655000	0.94253	GAA		0.303	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			A	55750902	G	A	55750902	3	1	265	1	0	0	0	0	1	0	0	0	2739	1291	45	2	236	2	CCDC104	2	55750902	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	15093925	55750902	187448471	13	14881											
C2orf78	388960	genome.wustl.edu	37	2	74042741	74042741	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:74042741A>G	ENST00000409561.1	+	3	1512	c.1391A>G	c.(1390-1392)gAc>gGc	p.D464G		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	464										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CAAGATCTTGACCAACCTGAA	0.448																																																0			2											70	68	69					2																	74042741		1937	4126	6063	73896249	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1391A>G	2.37:g.74042741A>G	ENSP00000387124:p.Asp464Gly		73896249		Missense_Mutation	SNP	ENST00000409561.1	37	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185582	0.57909	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.48	4.25	0.50352	.	0.568880	0.15732	N	0.247398	T	0.66406	0.2786	M	0.79258	2.445	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56733	-0.7930	9	0.72032	D	0.01	-17.8971	9.0884	0.36596	0.8152:0.1848:0.0:0.0	.	464	A6NCI8	CB078_HUMAN	G	464;454	.	ENSP00000340692:D454G	D	+	2	0	C2orf78	73896249	0.005000	0.15991	0.130000	0.21974	0.025000	0.11179	1.490000	0.35573	2.216000	0.71823	0.533000	0.62120	GAC		0.448	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		G	74042741	A	G	74042741	3	3	265	1	0	0	0	0	1	0	0	0	2195	275	10	4	1401	4	C2orf78	2	74042741	Missense_Mutation	SNP	A	TCGA-24-1850-01A-01W-0639-09	18291839	74042741	169156632	14	14882											
STAMBP	10617	genome.wustl.edu	37	2	74058187	74058187	+	Splice_Site	SNP	G	G	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:74058187G>T	ENST00000394070.2	+	2	706		c.e2+1		STAMBP_ENST00000536064.1_Splice_Site|STAMBP_ENST00000394073.1_Splice_Site|STAMBP_ENST00000339566.3_Splice_Site|STAMBP_ENST00000409707.1_Splice_Site	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein						JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AGTATATCACGTAAGACACCT	0.423																																																0			2											103	90	94					2																	74058187		2203	4300	6503	73911695	SO:0001630	splice_region_variant	10617			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.203+1G>T	2.37:g.74058187G>T			73911695	B5M0B6|D6W5H7|Q3MJE7	Splice_Site	SNP	ENST00000394070.2	37	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598872	0.66332	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	.	.	.	4.67	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8472	0.63474	0.0:0.1548:0.8452:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAMBP	73911695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.968000	0.93407	1.259000	0.44117	0.655000	0.94253	.		0.423	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463	Intron	T	74058187	G	T	74058187	5	4	265	1	0	0	0	0	0	0	1	0	15252	1159	40	3	206	3	STAMBP	2	74058187	Splice_Site	SNP	G	TCGA-24-1850-01A-01W-0639-09	15446	74058187	169141186	15	14883											
MAT2A	4144	genome.wustl.edu	37	2	85769075	85769075	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:85769075C>T	ENST00000306434.3	+	5	652	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	MAT2A_ENST00000409017.1_Missense_Mutation_p.R114C|MAT2A_ENST00000490878.1_3'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	177					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCCTTGGTTACGCCCTGATTC	0.398																																																0			2											90	76	80					2																	85769075		2203	4300	6503	85622586	SO:0001583	missense	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.529C>T	2.37:g.85769075C>T	ENSP00000303147:p.Arg177Cys		85622586	A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148058	0.57151	.	.	ENSG00000168906	ENST00000306434;ENST00000409017	D;D	0.84589	-1.87;-1.87	5.89	5.02	0.67125	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.048242	0.85682	N	0.000000	D	0.90985	0.7165	H	0.96691	3.865	0.80722	D	1	P;P	0.42827	0.791;0.791	B;B	0.43052	0.406;0.406	D	0.92624	0.6110	10	0.72032	D	0.01	-26.539	12.8694	0.57957	0.0:0.9216:0.0:0.0784	.	177;177	B4DEX8;P31153	.;METK2_HUMAN	C	177;114	ENSP00000303147:R177C;ENSP00000386353:R114C	ENSP00000303147:R177C	R	+	1	0	MAT2A	85622586	0.883000	0.30277	1.000000	0.80357	0.862000	0.49288	0.522000	0.22909	1.513000	0.48852	0.563000	0.77884	CGC		0.398	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		T	85769075	C	T	85769075	3	4	265	1	0	0	0	0	1	0	0	0	9330	536	19	1	547	1	MAT2A	2	85769075	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	11710888	85769075	157430298	16	14884											
MRPL30	51263	genome.wustl.edu	37	2	99811269	99811269	+	Missense_Mutation	SNP	C	C	A	rs527425645		TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:99811269C>A	ENST00000338148.3	+	4	386	c.188C>A	c.(187-189)cCt>cAt	p.P63H	MRPL30_ENST00000409145.1_Missense_Mutation_p.P63H|MRPL30_ENST00000410042.1_Missense_Mutation_p.P63H|MRPL30_ENST00000465432.1_3'UTR|C2orf15_ENST00000512183.2_Missense_Mutation_p.P63H	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	63						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CCACAGAACCCTCATAAACTG	0.348																																																0			2											72	74	73					2																	99811269		2203	4300	6503	99177701	SO:0001583	missense	51263			AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"Mitochondrial ribosomal proteins / large subunits"	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.188C>A	2.37:g.99811269C>A	ENSP00000338057:p.Pro63His		99177701	A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273444	0.80580	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000410042;ENST00000338148;ENST00000409145;ENST00000409841	T;T;T	0.61627	0.09;0.09;0.09	4.1	4.1	0.47936	.	0.060502	0.64402	D	0.000002	T	0.74527	0.3728	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.78580	-0.2149	10	0.87932	D	0	-13.6963	14.2417	0.65961	0.0:1.0:0.0:0.0	.	63;63	Q8TCC3;Q8TCC3-3	RM30_HUMAN;.	H	63;76;63;63;63;63	ENSP00000420959:P63H;ENSP00000338057:P63H;ENSP00000386752:P63H	ENSP00000312464:P76H	P	+	2	0	C2orf15;MRPL30	99177701	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	6.723000	0.74742	2.270000	0.75569	0.655000	0.94253	CCT		0.348	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			A	99811269	C	A	99811269	3	1	265	1	0	0	0	0	1	0	0	0	9794	681	24	3	198	3	MRPL30	2	99811269	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	14042194	99811269	143388104	17	14885											
LYG1	129530	genome.wustl.edu	37	2	99900951	99900951	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:99900951C>G	ENST00000409448.1	-	8	806	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R	LYG1_ENST00000308528.4_Missense_Mutation_p.G164R			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	164					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TAGCCAGCACCCCCACTGTAG	0.483																																																0			2											102	86	91					2																	99900951		2203	4300	6503	99267383	SO:0001583	missense	129530			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.490G>C	2.37:g.99900951C>G	ENSP00000386923:p.Gly164Arg		99267383	Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	37	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795289	0.70452	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.68	4.68	0.58851	Lysozyme-like domain (1);	0.114863	0.38897	N	0.001521	T	0.65903	0.2736	M	0.83774	2.66	0.19575	N	0.999965	P	0.46706	0.883	P	0.57620	0.824	T	0.61019	-0.7147	8	.	.	.	-13.3208	12.9574	0.58438	0.0:1.0:0.0:0.0	.	164	Q8N1E2	LYG1_HUMAN	R	164	.	.	G	-	1	0	LYG1	99267383	0.010000	0.17322	0.031000	0.17742	0.966000	0.64601	2.397000	0.44477	2.457000	0.83068	0.561000	0.74099	GGT		0.483	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		G	99900951	C	G	99900951	3	3	265	1	0	0	0	0	1	0	0	0	9104	623	22	3	98	3	LYG1	2	99900951	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	89682	99900951	143298422	18	14886											
ANKRD57	65124	genome.wustl.edu	37	2	110373389	110373389	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr2:110373389T>G	ENST00000356454.3	+	1	1479	c.1323T>G	c.(1321-1323)caT>caG	p.H441Q	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	441	Poly-His.																ATCACCACCATCACCACTCGG	0.587																																																0			2											50	52	51					2																	110373389		2203	4300	6503	109730678	SO:0001583	missense	65124			AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1323T>G	2.37:g.110373389T>G	ENSP00000365830:p.His441Gln		109730678	Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736440	0.30774	.	.	ENSG00000198142	ENST00000356454	T	0.46451	0.87	3.94	-3.92	0.04155	.	.	.	.	.	T	0.18718	0.0449	N	0.19112	0.55	0.09310	N	1	B	0.34290	0.447	B	0.27262	0.078	T	0.22417	-1.0217	9	0.13853	T	0.58	.	6.8107	0.23802	0.0:0.2794:0.1301:0.5904	.	441	Q53LP3	ANR57_HUMAN	Q	441	ENSP00000365830:H441Q	ENSP00000365830:H441Q	H	+	3	2	ANKRD57	109730678	0.584000	0.26766	0.183000	0.23137	0.550000	0.35303	-0.033000	0.12246	-1.162000	0.02797	0.454000	0.30748	CAT		0.587	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		G	110373389	T	G	110373389	3	3	265	1	0	0	0	0	1	0	0	0	683	1432	50	5	1325	5	ANKRD57	2	110373389	Missense_Mutation	SNP	T	TCGA-24-1850-01A-01W-0639-09	10472438	110373389	132825984	19	14887											
ROBO1	6091	genome.wustl.edu	37	3	78666809	78666809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr3:78666809G>A	ENST00000464233.1	-	27	4371	c.4258C>T	c.(4258-4260)Cga>Tga	p.R1420*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R1320*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R1375*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.R1381*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1420					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTTGCCGTCGTGCTACTTTC	0.488																																																0			3											71	72	72					3																	78666809		1978	4153	6131	78749499	SO:0001587	stop_gained	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4258C>T	3.37:g.78666809G>A	ENSP00000420321:p.Arg1420*		78749499	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	39	7.751224	0.98468	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.	.	.	5.67	2.09	0.27110	.	0.045124	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1398	0.65313	0.0:0.0:0.2647:0.7353	.	.	.	.	X	1381;1375;1420;1375;1320;1424	.	.	R	-	1	2	ROBO1	78749499	0.025000	0.19082	0.014000	0.15608	0.003000	0.03518	0.478000	0.22212	0.683000	0.31428	0.585000	0.79938	CGA		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78666809	G	A	78666809	4	1	265	1	0	0	0	0	0	1	0	0	13516	1153	40	1	717	1	ROBO1	3	78666809	Nonsense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09		78666809	119355621	20	14888											
KIAA2018	205717	genome.wustl.edu	37	3	113374557	113374557	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr3:113374557C>T	ENST00000478658.1	-	5	5989	c.5972G>A	c.(5971-5973)cGt>cAt	p.R1991H	KIAA2018_ENST00000316407.4_Missense_Mutation_p.R1991H|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1991						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTCAGGCTGACGAATTTTGGA	0.478																																																0			3											60	58	59					3																	113374557		1991	4169	6160	114857247	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5972G>A	3.37:g.113374557C>T	ENSP00000420721:p.Arg1991His		114857247	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	c	16.14	3.039889	0.55003	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.35048	1.33;1.33	5.93	5.06	0.68205	.	0.057854	0.64402	D	0.000002	T	0.52208	0.1720	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56390	-0.7987	10	0.72032	D	0.01	-6.3731	17.3774	0.87396	0.0:0.8751:0.1249:0.0	.	1991	Q68DE3	K2018_HUMAN	H	1991	ENSP00000320794:R1991H;ENSP00000420721:R1991H	ENSP00000320794:R1991H	R	-	2	0	KIAA2018	114857247	1.000000	0.71417	0.993000	0.49108	0.627000	0.37826	5.364000	0.66110	1.533000	0.49186	-0.215000	0.12644	CGT		0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113374557	C	T	113374557	3	4	265	1	0	0	0	0	1	0	0	0	8268	536	19	1	769	1	KIAA2018	3	113374557	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	34707748	113374557	84647873	21	14889											
PRR23C	389152	genome.wustl.edu	37	3	138762806	138762806	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr3:138762806G>T	ENST00000413199.1	-	1	928	c.657C>A	c.(655-657)ttC>ttA	p.F219L	PRR23C_ENST00000502927.2_Missense_Mutation_p.F219L|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	219	Pro-rich.									breast(2)|lung(7)|skin(2)	11						CCAGAAGATGGAATTCCAGGT	0.672																																																0			3											52	60	57					3																	138762806		692	1591	2283	140245496	SO:0001583	missense	0				CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.657C>A	3.37:g.138762806G>T	ENSP00000396648:p.Phe219Leu		140245496		Missense_Mutation	SNP	ENST00000413199.1	37	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	G	9.560	1.118319	0.20877	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.26	-1.04	0.10068	.	3.001240	0.00883	N	0.002155	T	0.31575	0.0801	L	0.39898	1.24	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.12142	-1.0559	9	0.07990	T	0.79	.	7.123	0.25456	0.1142:0.5531:0.3328:0.0	.	219	Q6ZRP0	PR23C_HUMAN	L	219	.	ENSP00000396648:F219L	F	-	3	2	PRR23C	140245496	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	0.049000	0.14099	-0.225000	0.09913	0.455000	0.32223	TTC		0.672	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		T	138762806	G	T	138762806	3	4	265	1	0	0	0	0	1	0	0	0	12599	1165	41	3	135	3	PRR23C	3	138762806	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	25388249	138762806	59259624	22	14890											
ETFDH	2110	genome.wustl.edu	37	4	159618808	159618808	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr4:159618808A>C	ENST00000511912.1	+	8	1261	c.929A>C	c.(928-930)tAt>tCt	p.Y310S	ETFDH_ENST00000307738.5_Missense_Mutation_p.Y263S	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	310					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TCTTTCCTCTATCATTTGAAT	0.413																																																0			4											154	150	151					4																	159618808		2203	4300	6503	159838258	SO:0001583	missense	2110			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.929A>C	4.37:g.159618808A>C	ENSP00000426638:p.Tyr310Ser		159838258	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615045	0.87359	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.98192	-4.45;-4.78;-4.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.98426	4.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98223	1.0479	10	0.87932	D	0	-18.6412	15.6957	0.77494	1.0:0.0:0.0:0.0	.	263;249;310	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	S	310;145;263	ENSP00000426638:Y310S;ENSP00000422735:Y145S;ENSP00000303552:Y263S	ENSP00000303552:Y263S	Y	+	2	0	ETFDH	159838258	1.000000	0.71417	0.922000	0.36590	0.938000	0.57974	9.339000	0.96797	2.104000	0.64026	0.533000	0.62120	TAT		0.413	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			C	159618808	A	C	159618808	3	2	265	1	0	0	0	0	1	0	0	0	5271	449	16	5	959	5	ETFDH	4	159618808	Missense_Mutation	SNP	A	TCGA-24-1850-01A-01W-0639-09		159618808	31535468	23	14891											
TPPP	11076	genome.wustl.edu	37	5	666107	666107	+	Missense_Mutation	SNP	G	G	C	rs139757569		TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr5:666107G>C	ENST00000360578.5	-	3	564	c.443C>G	c.(442-444)gCg>gGg	p.A148G	AC026740.1_ENST00000594226.1_5'Flank|CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	148					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		GATGATGGGCGCCTTGCCCTC	0.682																																																0			5											84	76	79					5																	666107		2203	4300	6503	719107	SO:0001583	missense	11076			AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.443C>G	5.37:g.666107G>C	ENSP00000353785:p.Ala148Gly		719107		Missense_Mutation	SNP	ENST00000360578.5	37	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	7.978	0.750479	0.15778	.	.	ENSG00000171368	ENST00000360578	T	0.39056	1.1	4.39	4.39	0.52855	.	0.265446	0.37178	N	0.002218	T	0.15609	0.0376	N	0.02685	-0.53	0.45216	D	0.99822	B	0.02656	0.0	B	0.08055	0.003	T	0.14035	-1.0487	10	0.06494	T	0.89	-20.854	9.0135	0.36155	0.0:0.1599:0.6751:0.1649	.	148	O94811	TPPP_HUMAN	G	148	ENSP00000353785:A148G	ENSP00000353785:A148G	A	-	2	0	TPPP	719107	0.009000	0.17119	0.908000	0.35775	0.032000	0.12392	1.635000	0.37134	2.157000	0.67596	0.555000	0.69702	GCG		0.682	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		C	666107	G	C	666107	3	2	265	1	0	0	0	0	1	0	0	0	16413	1087	38	3	224	3	TPPP	5	666107	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09		666107	180249153	24	14892											
MARCH11	441061	genome.wustl.edu	37	5	16067758	16067758	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr5:16067758A>G	ENST00000332432.8	-	4	1230	c.1031T>C	c.(1030-1032)tTg>tCg	p.L344S		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	344					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TGGCAACCACAAAGTCCTACT	0.488																																																0			5											107	105	106					5																	16067758		1934	4141	6075	16120758	SO:0001583	missense	441061			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1031T>C	5.37:g.16067758A>G	ENSP00000333181:p.Leu344Ser		16120758	A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478064	0.44044	.	.	ENSG00000183654	ENST00000332432	T	0.19105	2.17	5.43	5.43	0.79202	.	0.000000	0.39909	N	0.001222	T	0.10981	0.0268	N	0.05078	-0.115	0.58432	D	0.999999	B	0.19935	0.04	B	0.22152	0.038	T	0.13415	-1.0510	10	0.08381	T	0.77	-13.0224	15.7733	0.78190	1.0:0.0:0.0:0.0	.	344	A6NNE9	MARHB_HUMAN	S	344	ENSP00000333181:L344S	ENSP00000333181:L344S	L	-	2	0	MARCH11	16120758	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.385000	0.66231	2.174000	0.68829	0.528000	0.53228	TTG		0.488	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		G	16067758	A	G	16067758	3	3	265	1	0	0	0	0	1	0	0	0	9300	131	5	4	181	4	MARCH11	5	16067758	Missense_Mutation	SNP	A	TCGA-24-1850-01A-01W-0639-09	15401651	16067758	164847502	25	14893											
NUP155	9631	genome.wustl.edu	37	5	37327817	37327817	+	Silent	SNP	G	G	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr5:37327817G>A	ENST00000231498.3	-	18	2141	c.1938C>T	c.(1936-1938)gcC>gcT	p.A646A	NUP155_ENST00000381843.2_Silent_p.A587A|RNU7-75P_ENST00000516071.1_RNA|NUP155_ENST00000513532.1_Silent_p.A646A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	646	Pro-rich.				atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCATATTTGTGGCCTGAGTTG	0.418																																																0			5											100	84	89					5																	37327817		2203	4300	6503	37363574	SO:0001819	synonymous_variant	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1938C>T	5.37:g.37327817G>A			37363574	Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	CCDS3921.1																																																																																				0.418	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		A	37327817	G	A	37327817	2	1	265	1	0	0	0	0	0	0	0	1	10756	1335	47	2		2	NUP155	5	37327817	Silent	SNP	G	TCGA-24-1850-01A-01W-0639-09	21260059	37327817	143587443	26	14894											
NNT	23530	genome.wustl.edu	37	5	43656873	43656873	+	Silent	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr5:43656873C>T	ENST00000264663.5	+	16	2633	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G	NNT_ENST00000512996.2_Silent_p.G673G|NNT_ENST00000344920.4_Silent_p.G804G	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	804					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TTACTACTGGCATCACCTGTC	0.468																																																0			5											201	175	184					5																	43656873		2203	4300	6503	43692630	SO:0001819	synonymous_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2412C>T	5.37:g.43656873C>T			43692630	Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																				0.468	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		T	43656873	C	T	43656873	2	4	265	1	0	0	0	0	0	0	0	1	10510	697	25	2		2	NNT	5	43656873	Silent	SNP	C	TCGA-24-1850-01A-01W-0639-09	6329056	43656873	137258387	27	14895											
GPR98	84059	genome.wustl.edu	37	5	89953945	89953945	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr5:89953945C>G	ENST00000405460.2	+	21	4698	c.4602C>G	c.(4600-4602)gaC>gaG	p.D1534E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1534	Calx-beta 10. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGACAATGACGAGGAAGGAG	0.353																																																0			5											111	112	112					5																	89953945		1837	4090	5927	89989701	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4602C>G	5.37:g.89953945C>G	ENSP00000384582:p.Asp1534Glu		89989701	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.730812	0.00687	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.25579	1.79	5.86	0.54	0.17163	.	0.142677	0.64402	N	0.000006	T	0.05227	0.0139	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37361	-0.9709	10	0.02654	T	1	.	2.5057	0.04645	0.5274:0.2307:0.1315:0.1103	.	1534	Q8WXG9	GPR98_HUMAN	E	1534	ENSP00000384582:D1534E	ENSP00000296619:D1534E	D	+	3	2	GPR98	89989701	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	1.258000	0.32944	-0.105000	0.12132	-2.261000	0.00279	GAC		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89953945	C	G	89953945	3	3	265	1	0	0	0	0	1	0	0	0	6721	535	19	3	4684	3	GPR98	5	89953945	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	46297072	89953945	90961315	28	14896											
C6orf146	222826	genome.wustl.edu	37	6	4069564	4069564	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr6:4069564T>A	ENST00000274673.3	-	7	1296	c.893A>T	c.(892-894)cAt>cTt	p.H298L	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	298																	AATAGTCATATGTTGTAATCG	0.433																																																0			6											119	118	119					6																	4069564		2203	4300	6503	4014563	SO:0001583	missense	222826			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.893A>T	6.37:g.4069564T>A	ENSP00000274673:p.His298Leu		4014563	Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970842	0.53614	.	.	ENSG00000145975	ENST00000274673;ENST00000538080;ENST00000470599	T	0.20200	2.09	5.29	2.85	0.33270	.	0.317286	0.31301	N	0.007890	T	0.12860	0.0312	L	0.55103	1.725	0.09310	N	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.11251	-1.0595	10	0.02654	T	1	-15.3568	4.7309	0.12964	0.1645:0.0881:0.0:0.7473	.	298	Q8IXS0	CF146_HUMAN	L	298;145;426	ENSP00000274673:H298L	ENSP00000274673:H298L	H	-	2	0	C6orf146	4014563	0.813000	0.29090	0.017000	0.16124	0.978000	0.69477	1.066000	0.30604	0.440000	0.26502	0.528000	0.53228	CAT		0.433	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		A	4069564	T	A	4069564	3	1	265	1	0	0	0	0	1	0	0	0	2335	1464	51	5	637	5	C6orf146	6	4069564	Missense_Mutation	SNP	T	TCGA-24-1850-01A-01W-0639-09		4069564	167045503	29	14897											
ZKSCAN4	387032	genome.wustl.edu	37	6	28213601	28213601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr6:28213601G>A	ENST00000377294.2	-	5	1174	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ZKSCAN4_ENST00000423974.2_Nonsense_Mutation_p.Q156*	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	311	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.Q311*(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCATTTTTCTGCTTTCTTTGT	0.468																																																1	Substitution - Nonsense(1)	lung(1)	6											106	91	96					6																	28213601		2203	4300	6503	28321580	SO:0001587	stop_gained	387032			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.931C>T	6.37:g.28213601G>A	ENSP00000366509:p.Gln311*		28321580	B2RE32|Q5U7L4	Nonsense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853287	0.71719	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	.	.	.	4.95	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	8.7448	0.34580	0.0858:0.0:0.7605:0.1537	.	.	.	.	X	311;156;17;187	.	ENSP00000349249:Q187X	Q	-	1	0	ZKSCAN4	28321580	0.858000	0.29795	0.998000	0.56505	0.902000	0.53008	2.822000	0.48073	2.447000	0.82792	0.655000	0.94253	CAG		0.468	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		A	28213601	G	A	28213601	4	1	265	1	0	0	0	0	0	1	0	0	17689	1328	46	2	710	2	ZKSCAN4	6	28213601	Nonsense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	24144037	28213601	142901466	30	14898											
PKHD1	5314	genome.wustl.edu	37	6	51882330	51882330	+	Silent	SNP	C	C	T	rs137925439	byFrequency	TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr6:51882330C>T	ENST00000371117.3	-	34	5753	c.5478G>A	c.(5476-5478)gcG>gcA	p.A1826A	PKHD1_ENST00000340994.4_Silent_p.A1826A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1826					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTGCTCTGTCGCCATGGCAA	0.522													C|||	4	0.000798722	0	0.0029	5008	,	,		20791	0		0.002	False		,,,				2504	0															0			6						C	,	3,4403	6.2+/-15.9	0,3,2200	194	167	176		5478,5478	1.9	0.2	6	dbSNP_134	176	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	0,11,6492	TT,TC,CC		0.093,0.0681,0.0846	,	1826/4075,1826/3397	51882330	11,12995	2203	4300	6503	51990289	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5478G>A	6.37:g.51882330C>T			51990289	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51882330	C	T	51882330	2	4	265	1	0	0	0	0	0	0	0	1	11971	871	31	1		1	PKHD1	6	51882330	Silent	SNP	C	TCGA-24-1850-01A-01W-0639-09	23668729	51882330	119232737	31	14899											
PTPRK	5796	genome.wustl.edu	37	6	128388770	128388770	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr6:128388770G>C	ENST00000368215.3	-	12	2050	c.2051C>G	c.(2050-2052)cCg>cGg	p.P684R	PTPRK_ENST00000368213.5_Missense_Mutation_p.P684R|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.P684R|PTPRK_ENST00000368207.3_Missense_Mutation_p.P684R|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368226.4_Missense_Mutation_p.P684R|PTPRK_ENST00000368210.3_Missense_Mutation_p.P684R|PTPRK_ENST00000368227.3_Missense_Mutation_p.P684R			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	684					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACAGTGAACGGGGCAGGCTC	0.542																																																0			6											104	102	102					6																	128388770		2203	4300	6503	128430463	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2051C>G	6.37:g.128388770G>C	ENSP00000357198:p.Pro684Arg		128430463	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	G	23.3	4.403885	0.83230	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.08193	3.12;3.13;3.14;3.12;3.12;3.15;3.14	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	L	0.56340	1.77	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.962;0.999;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;1.0;0.936;0.995;0.998	T	0.00385	-1.1773	10	0.59425	D	0.04	.	19.9002	0.96983	0.0:0.0:1.0:0.0	.	684;684;684;541;684;684	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	R	684;684;684;684;684;684;684;541	ENSP00000357209:P684R;ENSP00000357210:P684R;ENSP00000432973:P684R;ENSP00000357196:P684R;ENSP00000357193:P684R;ENSP00000357198:P684R;ENSP00000357190:P684R	ENSP00000357190:P684R	P	-	2	0	PTPRK	128430463	1.000000	0.71417	0.954000	0.39281	0.909000	0.53808	7.876000	0.87215	2.709000	0.92574	0.655000	0.94253	CCG		0.542	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			C	128388770	G	C	128388770	3	2	265	1	0	0	0	0	1	0	0	0	12808	1116	39	3	2369	3	PTPRK	6	128388770	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	76506440	128388770	42726297	32	14900											
C6orf72	116254	genome.wustl.edu	37	6	149900056	149900056	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr6:149900056A>T	ENST00000367419.5	+	4	497	c.376A>T	c.(376-378)Agt>Tgt	p.S126C	RP1-12G14.6_ENST00000435273.2_RNA	NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	126						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ATCTGGTTCCAGTTTGCAACT	0.303																																																0			6											92	93	92					6																	149900056		2203	4300	6503	149941749	SO:0001583	missense	116254			BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 72"	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.376A>T	6.37:g.149900056A>T	ENSP00000356389:p.Ser126Cys		149941749	B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.931578	0.73442	.	.	ENSG00000055211	ENST00000367423;ENST00000367419	.	.	.	5.82	3.46	0.39613	.	0.431594	0.27787	N	0.017860	T	0.38665	0.1049	L	0.60455	1.87	0.31388	N	0.678147	D;D	0.67145	0.996;0.996	P;P	0.56216	0.794;0.794	T	0.30650	-0.9971	8	.	.	.	-7.188	6.9125	0.24342	0.7287:0.0:0.2713:0.0	.	126;126	A8K037;Q9NU53	.;CF072_HUMAN	C	6;126	.	.	S	+	1	0	C6orf72	149941749	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.536000	0.36072	1.022000	0.39626	0.459000	0.35465	AGT		0.303	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		T	149900056	A	T	149900056	3	4	265	1	0	0	0	0	1	0	0	0	2371	188	7	5	390	5	C6orf72	6	149900056	Missense_Mutation	SNP	A	TCGA-24-1850-01A-01W-0639-09	21511286	149900056	21215011	33	14901											
C6orf70	55780	genome.wustl.edu	37	6	170155405	170155405	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr6:170155405G>C	ENST00000366773.3	+	3	235	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L	ERMARD_ENST00000366772.2_Missense_Mutation_p.V68L|ERMARD_ENST00000392095.4_5'UTR|ERMARD_ENST00000418781.3_Missense_Mutation_p.V68L|ERMARD_ENST00000588451.1_5'UTR	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	68					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CTGGGGAAGCGTGAGGCTGCT	0.443																																																0			6											161	161	161					6																	170155405		2203	4300	6503	169897330	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.202G>C	6.37:g.170155405G>C	ENSP00000355735:p.Val68Leu		169897330	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582454	0.46006	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781	T	0.59364	0.27	5.93	4.13	0.48395	.	0.233616	0.30219	N	0.010140	T	0.42966	0.1226	M	0.69823	2.125	0.80722	D	1	P;P	0.48589	0.728;0.912	B;B	0.41723	0.283;0.365	T	0.48625	-0.9019	10	0.59425	D	0.04	.	10.7472	0.46187	0.0719:0.1326:0.7955:0.0	.	68;68	Q5T6L9-2;Q5T6L9	.;CF070_HUMAN	L	68	ENSP00000355735:V68L	ENSP00000355734:V68L	V	+	1	0	C6orf70	169897330	0.986000	0.35501	0.088000	0.20740	0.106000	0.19336	2.503000	0.45407	0.823000	0.34589	0.557000	0.71058	GTG		0.443	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		C	170155405	G	C	170155405	3	2	265	1	0	0	0	0	1	0	0	0	2370	1145	40	3	212	3	C6orf70	6	170155405	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	20255349	170155405	959662	34	14902											
GCK	2645	genome.wustl.edu	37	7	44192981	44192981	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr7:44192981G>A	ENST00000403799.3	-	2	596	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	GCK_ENST00000437084.1_Missense_Mutation_p.R43C|GCK_ENST00000476008.1_5'Flank|GCK_ENST00000395796.3_Missense_Mutation_p.R42C|GCK_ENST00000345378.2_Missense_Mutation_p.R44C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	43	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTCAGGCCGCGGTCCATCTCC	0.607																																																0			7	GRCh37	CM074225	GCK	M							243	209	221					7																	44192981		2203	4300	6503	44159506	SO:0001583	missense	2645			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.127C>T	7.37:g.44192981G>A	ENSP00000384247:p.Arg43Cys		44159506	A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262865	0.80358	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	5.08	5.08	0.68730	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.976;0.999	D	0.99222	1.0879	10	0.72032	D	0.01	-3.6723	13.4303	0.61051	0.0:0.0:0.843:0.157	.	43;44;42	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	C	43;42;44;43	ENSP00000384247:R43C;ENSP00000379142:R42C;ENSP00000223366:R44C;ENSP00000402840:R43C	ENSP00000223366:R44C	R	-	1	0	GCK	44159506	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	1.818000	0.39012	2.517000	0.84864	0.655000	0.94253	CGC		0.607	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			A	44192981	G	A	44192981	3	1	265	1	0	0	0	0	1	0	0	0	6293	1116	39	1	1306	1	GCK	7	44192981	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09		44192981	114945682	35	14903											
EGFR	1956	genome.wustl.edu	37	7	55221739	55221739	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr7:55221739G>T	ENST00000275493.2	+	7	960	c.783G>T	c.(781-783)aaG>aaT	p.K261N	EGFR_ENST00000442591.1_Missense_Mutation_p.K261N|EGFR_ENST00000342916.3_Missense_Mutation_p.K261N|EGFR_ENST00000455089.1_Missense_Mutation_p.K216N|EGFR_ENST00000420316.2_Missense_Mutation_p.K261N|EGFR_ENST00000454757.2_Missense_Mutation_p.K208N|EGFR_ENST00000344576.2_Missense_Mutation_p.K261N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	261			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCACGTGCAAGGACACCTGCC	0.572		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0			7											216	168	185					7																	55221739		2203	4300	6503	55189233	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.783G>T	7.37:g.55221739G>T	ENSP00000275493:p.Lys261Asn		55189233	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.706068	0.68615	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.94	3.8	0.43715	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.89214	3.015	0.54753	D	0.999988	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.985;0.988;1.0;0.997;0.984	T	0.79310	-0.1856	10	0.38643	T	0.18	.	9.4778	0.38882	0.2561:0.0:0.7439:0.0	.	216;261;261;261;261	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	N	216;261;131;261;261;261;261;208;55	ENSP00000415559:K216N;ENSP00000342376:K261N;ENSP00000345973:K261N;ENSP00000413843:K261N;ENSP00000275493:K261N;ENSP00000410031:K261N;ENSP00000395243:K208N	ENSP00000275493:K261N	K	+	3	2	EGFR	55189233	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.923000	0.48868	1.490000	0.48466	0.563000	0.77884	AAG		0.572	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221739	G	T	55221739	3	4	265	1	0	0	0	0	1	0	0	0	4967	991	35	3	809	3	EGFR	7	55221739	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	11028758	55221739	103916924	36	14904											
SAMD9	54809	genome.wustl.edu	37	7	92731857	92731857	+	Nonsense_Mutation	SNP	G	G	C			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr7:92731857G>C	ENST00000379958.2	-	3	3823	c.3554C>G	c.(3553-3555)tCa>tGa	p.S1185*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1185						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCGCCTTTTTGACTTCGGATA	0.373																																																0			7											196	198	197					7																	92731857		2203	4300	6503	92569793	SO:0001587	stop_gained	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3554C>G	7.37:g.92731857G>C	ENSP00000369292:p.Ser1185*		92569793	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742625	0.89573	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.54	1.52	0.23074	.	0.461102	0.17311	N	0.178883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-5.5032	5.1563	0.15036	0.1326:0.0:0.5293:0.3381	.	.	.	.	X	1185	.	ENSP00000369292:S1185X	S	-	2	0	SAMD9	92569793	0.035000	0.19736	0.957000	0.39632	0.016000	0.09150	1.196000	0.32198	1.100000	0.41517	0.511000	0.50034	TCA		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		C	92731857	G	C	92731857	4	2	265	1	0	0	0	0	0	1	0	0	13829	1294	45	3	1219	3	SAMD9	7	92731857	Nonsense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	37510118	92731857	66406806	37	14905											
SAMD9L	219285	genome.wustl.edu	37	7	92763843	92763843	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr7:92763843C>G	ENST00000318238.4	-	5	2658	c.1442G>C	c.(1441-1443)tGg>tCg	p.W481S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.W481S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.W481S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	481					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.W481L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATCTTCTCCCACATGTTAGT	0.413																																																1	Substitution - Missense(1)	lung(1)	7											98	96	97					7																	92763843		2203	4300	6503	92601779	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1442G>C	7.37:g.92763843C>G	ENSP00000326247:p.Trp481Ser		92601779	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.853179	0.00066	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.38401	1.14;1.14;1.14	4.1	-1.74	0.08056	.	1.266840	0.05457	N	0.550425	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26224	-1.0109	10	0.05721	T	0.95	0.0776	8.4072	0.32622	0.0:0.3672:0.4587:0.1741	.	481	Q8IVG5	SAM9L_HUMAN	S	481	ENSP00000326247:W481S;ENSP00000405760:W481S;ENSP00000408796:W481S	ENSP00000326247:W481S	W	-	2	0	SAMD9L	92601779	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.546000	0.02188	-0.120000	0.11809	0.460000	0.39030	TGG		0.413	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		G	92763843	C	G	92763843	3	3	265	1	0	0	0	0	1	0	0	0	13830	595	21	3	3316	3	SAMD9L	7	92763843	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	31986	92763843	66374820	38	14906											
IMPDH1	3614	genome.wustl.edu	37	7	128035056	128035056	+	Silent	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr7:128035056C>T	ENST00000480861.1	-	11	1244	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	IMPDH1_ENST00000348127.6_Silent_p.T443T|IMPDH1_ENST00000470772.1_Silent_p.T393T|IMPDH1_ENST00000354269.5_Silent_p.T469T|IMPDH1_ENST00000496200.1_Silent_p.T369T|IMPDH1_ENST00000419067.2_Silent_p.T446T|IMPDH1_ENST00000378717.4_Silent_p.T410T|IMPDH1_ENST00000343214.4_Silent_p.T369T|IMPDH1_ENST00000338791.6_Silent_p.T479T	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CAGGGGCCTCCGTAGTGGCGG	0.637																																																0			7											46	56	53					7																	128035056		2203	4300	6503	127822292	SO:0001819	synonymous_variant	3614				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1167G>A	7.37:g.128035056C>T			127822292		Silent	SNP	ENST00000480861.1	37	CCDS55161.1																																																																																				0.637	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		T	128035056	C	T	128035056	2	4	265	1	0	0	0	0	0	0	0	1	7726	639	23	1		1	IMPDH1	7	128035056	Silent	SNP	C	TCGA-24-1850-01A-01W-0639-09	35271213	128035056	31103607	39	14907											
ZNF862	643641	genome.wustl.edu	37	7	149558583	149558583	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr7:149558583C>G	ENST00000223210.4	+	7	2579	c.2334C>G	c.(2332-2334)atC>atG	p.I778M	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	778					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGCAGGAGATCATCCGCCTGA	0.637																																																0			7											24	28	27					7																	149558583		2057	4197	6254	149189516	SO:0001583	missense	0			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2334C>G	7.37:g.149558583C>G	ENSP00000223210:p.Ile778Met		149189516	A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	1.218	-0.627787	0.03610	.	.	ENSG00000106479	ENST00000223210	T	0.01133	5.29	5.18	0.729	0.18266	Ribonuclease H-like (1);	0.126263	0.35555	N	0.003126	T	0.00754	0.0025	N	0.14661	0.345	0.09310	N	0.999999	B	0.19200	0.034	B	0.16289	0.015	T	0.48822	-0.9001	10	0.30854	T	0.27	-24.0446	5.2926	0.15735	0.0:0.5573:0.1545:0.2882	.	778	O60290	ZN862_HUMAN	M	778	ENSP00000223210:I778M	ENSP00000223210:I778M	I	+	3	3	ZNF862	149189516	0.076000	0.21285	0.172000	0.22920	0.417000	0.31264	0.073000	0.14640	0.211000	0.20683	0.585000	0.79938	ATC		0.637	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		G	149558583	C	G	149558583	3	3	265	1	0	0	0	0	1	0	0	0	18195	816	29	3	2360	3	ZNF862	7	149558583	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	21523527	149558583	9580080	40	14908											
KIAA1797	54914	genome.wustl.edu	37	9	20988332	20988332	+	Splice_Site	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr9:20988332C>T	ENST00000380249.1	+	43	5272	c.4908C>T	c.(4906-4908)ggC>ggT	p.G1636G	FOCAD_ENST00000605086.1_Splice_Site_p.G1072G|FOCAD_ENST00000338382.6_Splice_Site_p.G1636G	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1636						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TCATTTCAGGCGTTTTGAAGA	0.383																																																0			9											141	131	134					9																	20988332		2203	4300	6503	20978332	SO:0001630	splice_region_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4907-1C>T	9.37:g.20988332C>T			20978332	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	CCDS34993.1																																																																																				0.383	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Silent	T	20988332	C	T	20988332	5	4	265	1	0	0	0	0	0	0	1	0	8258	782	27	1	5066	1	KIAA1797	9	20988332	Splice_Site	SNP	C	TCGA-24-1850-01A-01W-0639-09		20988332	120225099	41	14909											
PALM2	114299	genome.wustl.edu	37	9	112642906	112642906	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr9:112642906C>T	ENST00000374531.2	+	4	282	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	PALM2_ENST00000483909.1_Missense_Mutation_p.R68W|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R68W|AKAP2_ENST00000510514.5_Missense_Mutation_p.R68W|PALM2_ENST00000314527.4_Missense_Mutation_p.R68W|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R68W|AKAP2_ENST00000555236.1_Missense_Mutation_p.R68W|PALM2_ENST00000448454.2_Missense_Mutation_p.R70W	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	70				Missing (in Ref. 2; BAC04472). {ECO:0000305}.	regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGCCAGGAGGCGGCAGTCTGA	0.532																																																0			9											98	92	94					9																	112642906		2203	4300	6503	111682727	SO:0001583	missense	445815			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.208C>T	9.37:g.112642906C>T	ENSP00000363656:p.Arg70Trp		111682727	A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696073	0.68386	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.36	2.4	0.29515	.	1.101910	0.06975	N	0.818864	T	0.44808	0.1311	L	0.60455	1.87	0.26503	N	0.974746	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;P;D	0.76071	0.987;0.987;0.877;0.914	T	0.37776	-0.9691	10	0.87932	D	0	-21.832	12.8117	0.57643	0.5524:0.4476:0.0:0.0	.	68;68;70;70	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	W	70;70;68;68;54;68;68;68;68;68	ENSP00000363656:R70W;ENSP00000400206:R70W;ENSP00000417525:R68W;ENSP00000323805:R68W;ENSP00000419747:R54W;ENSP00000363654:R68W;ENSP00000397839:R68W;ENSP00000305861:R68W;ENSP00000451476:R68W;ENSP00000421522:R68W	ENSP00000305861:R68W	R	+	1	2	PALM2-AKAP2;PALM2;AKAP2	111682727	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	0.827000	0.27421	0.299000	0.22661	0.650000	0.86243	CGG		0.532	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		T	112642906	C	T	112642906	3	4	265	1	0	0	0	0	1	0	0	0	11409	759	27	1	222	1	PALM2	9	112642906	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	91654574	112642906	28570525	42	14910											
MED22	6837	genome.wustl.edu	37	9	136211030	136211030	+	Silent	SNP	G	G	A	rs146119308		TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr9:136211030G>A	ENST00000491289.1	-	4	944	c.363C>T	c.(361-363)gaC>gaT	p.D121D	MED22_ENST00000476080.1_Silent_p.D121D|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000344469.5_Silent_p.D121D|MED22_ENST00000343730.5_Silent_p.D121D|MED22_ENST00000371999.1_Silent_p.D115D			Q15528	MED22_HUMAN	mediator complex subunit 22	121						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TGGAGATCTCGTCTCGCAGCG	0.587																																																0			9						G	,	1,4405	2.1+/-5.4	0,1,2202	116	101	106		363,363	-10.2	0	9	dbSNP_134	106	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous,coding-synonymous	MED22	NM_133640.3,NM_181491.1	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	121/201,121/141	136211030	4,13002	2203	4300	6503	135200851	SO:0001819	synonymous_variant	6837				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.363C>T	9.37:g.136211030G>A			135200851	B3KW83|B3KWX4|O76072|Q5T8U0	Silent	SNP	ENST00000491289.1	37	CCDS6963.1																																																																																				0.587	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		A	136211030	G	A	136211030	2	1	265	1	0	0	0	0	0	0	0	1	9440	1136	40	1		1	MED22	9	136211030	Silent	SNP	G	TCGA-24-1850-01A-01W-0639-09	23568124	136211030	5002401	43	14911											
ADARB2	105	genome.wustl.edu	37	10	1229278	1229278	+	Missense_Mutation	SNP	G	G	A	rs367615505	byFrequency	TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr10:1229278G>A	ENST00000381312.1	-	10	2400	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	ADARB2_ENST00000381310.3_Missense_Mutation_p.T201M|ADARB2_ENST00000381305.1_Missense_Mutation_p.T94M	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	692	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.T692M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CATGGAGGGCGTGTCTCCAGG	0.572													G|||	2	0.000399361	0.0015	0	5008	,	,		17501	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	endometrium(1)	10						G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	66	64	65		2075	3.4	0.9	10		65	0,8600		0,0,4300	no	missense	ADARB2	NM_018702.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	692/740	1229278	2,13004	2203	4300	6503	1219278	SO:0001583	missense	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2075C>T	10.37:g.1229278G>A	ENSP00000370713:p.Thr692Met		1219278	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	7.474	0.647207	0.14516	4.54E-4	0.0	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.93712	-3.27;-3.27;-3.27	5.32	3.41	0.39046	Adenosine deaminase/editase (3);	0.935142	0.09187	N	0.836678	D	0.88455	0.6441	L	0.39397	1.21	0.26732	N	0.970579	P;B;P	0.51240	0.483;0.371;0.943	B;B;B	0.38378	0.148;0.105;0.272	T	0.78288	-0.2262	10	0.46703	T	0.11	-20.8642	8.1269	0.31003	0.3252:0.0:0.6748:0.0	.	692;94;201	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	M	692;201;94	ENSP00000370713:T692M;ENSP00000370711:T201M;ENSP00000370706:T94M	ENSP00000370706:T94M	T	-	2	0	ADARB2	1219278	0.451000	0.25705	0.904000	0.35570	0.048000	0.14542	0.874000	0.28065	0.579000	0.29504	0.561000	0.74099	ACG		0.572	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		A	1229278	G	A	1229278	3	1	265	1	0	0	0	0	1	0	0	0	283	1145	40	1	148	1	ADARB2	10	1229278	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09		1229278	134305469	44	14912											
ITGA8	8516	genome.wustl.edu	37	10	15701025	15701025	+	Silent	SNP	C	C	T	rs75923248	byFrequency	TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr10:15701025C>T	ENST00000378076.3	-	10	1274	c.921G>A	c.(919-921)acG>acA	p.T307T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	307					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCTGAATAAACGTCATATCCG	0.318													C|||	54	0.0107827	0.0393	0.0029	5008	,	,		16487	0		0	False		,,,				2504	0															0			10						C		143,4261	99.4+/-138.0	1,141,2060	52	55	54		921	-0.8	1	10	dbSNP_131	54	0,8596		0,0,4298	no	coding-synonymous	ITGA8	NM_003638.1		1,141,6358	TT,TC,CC		0.0,3.247,1.1		307/1064	15701025	143,12857	2202	4298	6500	15741031	SO:0001819	synonymous_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.921G>A	10.37:g.15701025C>T			15741031	B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	CCDS31155.1																																																																																				0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		T	15701025	C	T	15701025	2	4	265	1	0	0	0	0	0	0	0	1	7882	523	19	1		1	ITGA8	10	15701025	Silent	SNP	C	TCGA-24-1850-01A-01W-0639-09	14471747	15701025	119833722	45	14913											
KIAA1462	57608	genome.wustl.edu	37	10	30318362	30318362	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr10:30318362C>T	ENST00000375377.1	-	3	816	c.715G>A	c.(715-717)Gag>Aag	p.E239K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	239					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTCAGGCTCTCGGGGGAAAGA	0.458																																																0			10											141	143	142					10																	30318362		1963	4148	6111	30358368	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.715G>A	10.37:g.30318362C>T	ENSP00000364526:p.Glu239Lys		30358368	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500928	0.26861	.	.	ENSG00000165757	ENST00000375377	T	0.15256	2.44	5.35	3.48	0.39840	.	0.227382	0.38005	N	0.001855	T	0.13670	0.0331	L	0.46157	1.445	0.47511	D	0.999448	P	0.51351	0.944	B	0.37198	0.243	T	0.03068	-1.1076	10	0.44086	T	0.13	-22.694	10.9913	0.47551	0.0:0.8464:0.0:0.1536	.	239	Q9P266	K1462_HUMAN	K	239	ENSP00000364526:E239K	ENSP00000364526:E239K	E	-	1	0	KIAA1462	30358368	0.996000	0.38824	0.409000	0.26459	0.025000	0.11179	3.516000	0.53436	0.615000	0.30124	0.655000	0.94253	GAG		0.458	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		T	30318362	C	T	30318362	3	4	265	1	0	0	0	0	1	0	0	0	8234	893	31	1	3372	1	KIAA1462	10	30318362	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	14617337	30318362	105216385	46	14914											
OR52K2	119774	genome.wustl.edu	37	11	4471463	4471463	+	Silent	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr11:4471463C>T	ENST00000325719.4	+	1	939	c.894C>T	c.(892-894)acC>acT	p.T298T		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTCAAGACCAAGCAAATCC	0.502																																																0			11											108	102	104					11																	4471463		2201	4298	6499	4428039	SO:0001819	synonymous_variant	119774			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"GPCR / Class A : Olfactory receptors"	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.894C>T	11.37:g.4471463C>T			4428039	A8MUY8|B2RP35|Q6IFK4	Silent	SNP	ENST00000325719.4	37	CCDS31351.1																																																																																				0.502	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		T	4471463	C	T	4471463	2	4	265	1	0	0	0	0	0	0	0	1	11124	581	21	2		2	OR52K2	11	4471463	Silent	SNP	C	TCGA-24-1850-01A-01W-0639-09		4471463	130535053	47	14915											
FOLH1	2346	genome.wustl.edu	37	11	49178312	49178312	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr11:49178312C>T	ENST00000256999.2	-	15	1840	c.1580G>A	c.(1579-1581)cGa>cAa	p.R527Q	FOLH1_ENST00000340334.7_Missense_Mutation_p.R512Q|FOLH1_ENST00000533034.1_Missense_Mutation_p.R512Q|FOLH1_ENST00000356696.3_Missense_Mutation_p.R527Q|FOLH1_ENST00000343844.4_Missense_Mutation_p.R219Q	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	527	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AATTCCAAGTCGTTGGAAGAA	0.303																																																0			11											64	70	68					11																	49178312		2201	4290	6491	49134888	SO:0001583	missense	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1580G>A	11.37:g.49178312C>T	ENSP00000256999:p.Arg527Gln		49134888	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695908	0.68386	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	3.78	3.78	0.43462	.	0.000000	0.56097	D	0.000026	T	0.60869	0.2302	M	0.74389	2.26	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;0.995;0.995	D;D;P;P	0.70935	0.939;0.971;0.866;0.608	T	0.61217	-0.7107	10	0.34782	T	0.22	.	13.4691	0.61271	0.0:1.0:0.0:0.0	.	512;512;527;527	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	Q	527;527;512;219;512;530	ENSP00000256999:R527Q;ENSP00000349129:R527Q;ENSP00000344131:R512Q;ENSP00000344086:R219Q;ENSP00000431463:R512Q	ENSP00000256999:R527Q	R	-	2	0	FOLH1	49134888	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.446000	0.73460	2.120000	0.65058	0.411000	0.27672	CGA		0.303	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		T	49178312	C	T	49178312	3	4	265	1	0	0	0	0	1	0	0	0	5979	884	31	1	692	1	FOLH1	11	49178312	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	44706849	49178312	85828204	48	14916											
OR10Q1	219960	genome.wustl.edu	37	11	57995510	57995510	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr11:57995510C>T	ENST00000316770.2	-	1	880	c.838G>A	c.(838-840)Gcg>Acg	p.A280T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A280T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAGACCAACGCGATTTGGCTG	0.547																																																1	Substitution - Missense(1)	lung(1)	11											125	111	116					11																	57995510		2201	4295	6496	57752086	SO:0001583	missense	219960			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.838G>A	11.37:g.57995510C>T	ENSP00000314324:p.Ala280Thr		57752086	Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759408	0.31137	.	.	ENSG00000180475	ENST00000316770	T	0.00152	8.66	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000716	T	0.00271	0.0008	L	0.35723	1.085	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.68864	-0.5296	10	0.31617	T	0.26	.	10.9225	0.47174	0.2833:0.7167:0.0:0.0	.	280	Q8NGQ4	O10Q1_HUMAN	T	280	ENSP00000314324:A280T	ENSP00000314324:A280T	A	-	1	0	OR10Q1	57752086	0.062000	0.20869	0.502000	0.27614	0.235000	0.25334	0.467000	0.22035	2.638000	0.89438	0.650000	0.86243	GCG		0.547	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		T	57995510	C	T	57995510	3	4	265	1	0	0	0	0	1	0	0	0	10916	768	27	1	125	1	OR10Q1	11	57995510	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	8817198	57995510	77011006	49	14917											
PZP	5858	genome.wustl.edu	37	12	9311110	9311110	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr12:9311110G>T	ENST00000261336.2	-	26	3228	c.3200C>A	c.(3199-3201)gCa>gAa	p.A1067E	PZP_ENST00000381997.2_Missense_Mutation_p.A853E|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1067					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGTAATGTGTGCTTCATCAAT	0.493																																					Melanoma(125;1402 1695 4685 34487 38571)											0			12											182	166	171					12																	9311110		2203	4300	6503	9202377	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3200C>A	12.37:g.9311110G>T	ENSP00000261336:p.Ala1067Glu		9202377	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	0.559	-0.846130	0.02671	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35605	1.3;1.3	4.44	1.23	0.21249	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.520640	0.16323	U	0.219453	T	0.23094	0.0558	L	0.27053	0.805	0.09310	N	1	B;B	0.23249	0.082;0.072	B;B	0.29353	0.053;0.101	T	0.19811	-1.0294	10	0.31617	T	0.26	.	6.4468	0.21882	0.0952:0.0:0.3741:0.5307	.	853;1067	P20742-2;P20742	.;PZP_HUMAN	E	1067;853	ENSP00000261336:A1067E;ENSP00000371427:A853E	ENSP00000261336:A1067E	A	-	2	0	PZP	9202377	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	0.277000	0.18734	0.539000	0.28788	-0.244000	0.11960	GCA		0.493	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		T	9311110	G	T	9311110	3	4	265	1	0	0	0	0	1	0	0	0	12872	1319	46	3	1292	3	PZP	12	9311110	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09		9311110	124540785	50	14918											
DYRK2	8445	genome.wustl.edu	37	12	68051843	68051843	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr12:68051843C>T	ENST00000344096.3	+	3	1569	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	DYRK2_ENST00000393555.3_Missense_Mutation_p.R313C|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CATCCAGTCGCGTTTTTACCG	0.488																																																0			12											92	87	89					12																	68051843		2203	4300	6503	66338110	SO:0001583	missense	8445			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1156C>T	12.37:g.68051843C>T	ENSP00000342105:p.Arg386Cys		66338110	B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289264	0.59976	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.22336	1.96;1.96	5.45	5.45	0.79879	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	0.53690	0.1812	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56372	-0.7990	9	.	.	.	.	19.6624	0.95878	0.0:1.0:0.0:0.0	.	386	Q92630	DYRK2_HUMAN	C	386;313	ENSP00000342105:R386C;ENSP00000377186:R313C	.	R	+	1	0	DYRK2	66338110	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.000000	0.63940	2.736000	0.93811	0.305000	0.20034	CGT		0.488	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			T	68051843	C	T	68051843	3	4	265	1	0	0	0	0	1	0	0	0	4856	768	27	1	1166	1	DYRK2	12	68051843	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	58740733	68051843	65800052	51	14919											
PLXNC1	10154	genome.wustl.edu	37	12	94631531	94631531	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr12:94631531C>T	ENST00000258526.4	+	10	2321	c.2072C>T	c.(2071-2073)tCg>tTg	p.S691L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	691					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACCCGGGCATCGAACATCACA	0.418																																																0			12											91	77	82					12																	94631531		2203	4300	6503	93155662	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2072C>T	12.37:g.94631531C>T	ENSP00000258526:p.Ser691Leu		93155662	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395926	0.42512	.	.	ENSG00000136040	ENST00000258526	T	0.78126	-1.15	5.99	5.05	0.67936	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.475621	0.21484	N	0.073782	T	0.72843	0.3511	L	0.27053	0.805	0.58432	D	0.999995	D	0.57571	0.98	P	0.48704	0.587	T	0.76124	-0.3074	10	0.72032	D	0.01	.	14.069	0.64849	0.1503:0.8497:0.0:0.0	.	691	O60486	PLXC1_HUMAN	L	691	ENSP00000258526:S691L	ENSP00000258526:S691L	S	+	2	0	PLXNC1	93155662	0.991000	0.36638	0.372000	0.25991	0.116000	0.19942	2.846000	0.48262	2.840000	0.97914	0.655000	0.94253	TCG		0.418	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			T	94631531	C	T	94631531	3	4	265	1	0	0	0	0	1	0	0	0	12126	893	31	1	2110	1	PLXNC1	12	94631531	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	26579688	94631531	39220364	52	14920											
NR2C1	7181	genome.wustl.edu	37	12	95445633	95445633	+	Silent	SNP	T	T	C			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr12:95445633T>C	ENST00000333003.5	-	8	1200	c.870A>G	c.(868-870)caA>caG	p.Q290Q	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Silent_p.Q290Q|NR2C1_ENST00000393101.3_Silent_p.Q290Q	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	290					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CATTACTATTTTGAGAAAGAT	0.343																																																0			12											90	83	86					12																	95445633		2203	4297	6500	93969764	SO:0001819	synonymous_variant	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.870A>G	12.37:g.95445633T>C			93969764	A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	CCDS9051.1																																																																																				0.343	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		C	95445633	T	C	95445633	2	2	265	1	0	0	0	0	0	0	0	1	10622	1838	64	4		4	NR2C1	12	95445633	Silent	SNP	T	TCGA-24-1850-01A-01W-0639-09	814102	95445633	38406262	53	14921											
OR4K14	122740	genome.wustl.edu	37	14	20482852	20482852	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr14:20482852C>G	ENST00000305045.2	-	1	500	c.501G>C	c.(499-501)ttG>ttC	p.L167F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CACAGTAAGGCAAATTTACAG	0.478																																																0			14											78	76	77					14																	20482852		2203	4300	6503	19552692	SO:0001583	missense	122740				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.501G>C	14.37:g.20482852C>G	ENSP00000305011:p.Leu167Phe		19552692	Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	9.599	1.128215	0.21041	.	.	ENSG00000169484	ENST00000305045	T	0.00253	8.43	4.04	-1.45	0.08828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	N	0.003657	T	0.00496	0.0016	M	0.84846	2.72	0.20873	N	0.99984	D	0.89917	1.0	D	0.87578	0.998	T	0.34850	-0.9812	10	0.87932	D	0	.	9.1309	0.36843	0.0:0.5069:0.0:0.4931	.	167	Q8NGD5	OR4KE_HUMAN	F	167	ENSP00000305011:L167F	ENSP00000305011:L167F	L	-	3	2	OR4K14	19552692	0.000000	0.05858	0.984000	0.44739	0.168000	0.22595	-1.357000	0.02607	-0.104000	0.12154	-1.499000	0.00960	TTG		0.478	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			G	20482852	C	G	20482852	3	3	265	1	0	0	0	0	1	0	0	0	11069	709	25	3	434	3	OR4K14	14	20482852	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09		20482852	86866688	54	14922											
MYH7	4625	genome.wustl.edu	37	14	23900815	23900815	+	Silent	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr14:23900815C>T	ENST00000355349.3	-	8	873	c.711G>A	c.(709-711)cgG>cgA	p.R237R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	237	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGTTGTCGTTCCGGACGGTCT	0.597																																																0			14											180	167	172					14																	23900815		2203	4300	6503	22970655	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.711G>A	14.37:g.23900815C>T			22970655	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23900815	C	T	23900815	2	4	265	1	0	0	0	0	0	0	0	1	10039	842	30	2		2	MYH7	14	23900815	Silent	SNP	C	TCGA-24-1850-01A-01W-0639-09	3417963	23900815	83448725	55	14923											
KCNH5	27133	genome.wustl.edu	37	14	63174939	63174939	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr14:63174939C>T	ENST00000322893.7	-	11	2522	c.2254G>A	c.(2254-2256)Gtg>Atg	p.V752M	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	752					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACAGTCACCACGCTGGTTCCG	0.532																																																0			14											111	97	102					14																	63174939		2203	4300	6503	62244692	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2254G>A	14.37:g.63174939C>T	ENSP00000321427:p.Val752Met		62244692	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123065	0.56613	.	.	ENSG00000140015	ENST00000322893	D	0.99113	-5.44	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	D	0.98071	0.9364	L	0.50333	1.59	0.80722	D	1	D	0.58620	0.983	P	0.46208	0.507	D	0.98012	1.0366	10	0.36615	T	0.2	.	19.4558	0.94889	0.0:1.0:0.0:0.0	.	752	Q8NCM2	KCNH5_HUMAN	M	752	ENSP00000321427:V752M	ENSP00000321427:V752M	V	-	1	0	KCNH5	62244692	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	3.495000	0.53280	2.611000	0.88343	0.655000	0.94253	GTG		0.532	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63174939	C	T	63174939	3	4	265	1	0	0	0	0	1	0	0	0	8035	536	19	1	716	1	KCNH5	14	63174939	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	39274124	63174939	44174601	56	14924											
ZFP36L1	677	genome.wustl.edu	37	14	69259626	69259626	+	Silent	SNP	G	G	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr14:69259626G>A	ENST00000439696.2	-	1	331	c.30C>T	c.(28-30)atC>atT	p.I10I	ZFP36L1_ENST00000555997.1_5'Flank|ZFP36L1_ENST00000336440.3_Silent_p.I10I	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	10					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCAAGTCGAAGATGGTGGCAG	0.542																																																0			14											145	146	146					14																	69259626		2203	4300	6503	68329379	SO:0001819	synonymous_variant	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.30C>T	14.37:g.69259626G>A			68329379	Q13851	Silent	SNP	ENST00000439696.2	37	CCDS9791.1																																																																																				0.542	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			A	69259626	G	A	69259626	2	1	265	1	0	0	0	0	0	0	0	1	17646	932	33	2		2	ZFP36L1	14	69259626	Silent	SNP	G	TCGA-24-1850-01A-01W-0639-09	6084687	69259626	38089914	57	14925											
SERPINA1	5265	genome.wustl.edu	37	14	94849404	94849404	+	Silent	SNP	G	G	A	rs150784949	byFrequency	TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr14:94849404G>A	ENST00000448921.1	-	4	743	c.171C>T	c.(169-171)ttC>ttT	p.F57F	SERPINA1_ENST00000437397.1_Silent_p.F57F|SERPINA1_ENST00000402629.1_Silent_p.F57F|SERPINA1_ENST00000393088.4_Silent_p.F57F|SERPINA1_ENST00000449399.3_Silent_p.F57F|SERPINA1_ENST00000440909.1_Silent_p.F57F|SERPINA1_ENST00000355814.4_Silent_p.F57F|SERPINA1_ENST00000393087.4_Silent_p.F57F|SERPINA1_ENST00000404814.4_Silent_p.F57F|SERPINA1_ENST00000555289.1_5'Flank	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	57					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGCTGAAGGCGAACTCAGCCA	0.552													G|||	4	0.000798722	0	0	5008	,	,		18609	0		0.001	False		,,,				2504	0.0031															0			14						G	,,,,,,,,,,	2,4404	4.2+/-10.8	0,2,2201	161	134	143		171,171,171,171,171,171,171,171,171,171,171	-3	0	14	dbSNP_134	143	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SERPINA1	NM_000295.4,NM_001002235.2,NM_001002236.2,NM_001127700.1,NM_001127701.1,NM_001127702.1,NM_001127703.1,NM_001127704.1,NM_001127705.1,NM_001127706.1,NM_001127707.1	,,,,,,,,,,	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	,,,,,,,,,,	57/419,57/419,57/419,57/419,57/419,57/419,57/419,57/419,57/419,57/419,57/419	94849404	5,13001	2203	4300	6503	93919157	SO:0001819	synonymous_variant	5265			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.171C>T	14.37:g.94849404G>A			93919157	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	CCDS9925.1																																																																																				0.552	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		A	94849404	G	A	94849404	2	1	265	1	0	0	0	0	0	0	0	1	14089	1049	37	1		1	SERPINA1	14	94849404	Silent	SNP	G	TCGA-24-1850-01A-01W-0639-09	25589778	94849404	12500136	58	14926											
FAM86A	196483	genome.wustl.edu	37	16	5139146	5139146	+	Missense_Mutation	SNP	C	C	T	rs147678499	byFrequency	TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr16:5139146C>T	ENST00000427587.4	-	7	922	c.854G>A	c.(853-855)cGc>cAc	p.R285H	FAM86A_ENST00000458008.4_Missense_Mutation_p.R251H|FAM86A_ENST00000587133.1_Missense_Mutation_p.R224H	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	285						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CTCTGGGTTGCGGACGGTAAA	0.677													c|||	11	0.00219649	0.0083	0	5008	,	,		16179	0		0	False		,,,				2504	0															0			16						T	HIS/ARG,HIS/ARG	18,2992		0,18,1487	95	112	106		854,752	3.1	0.9	16	dbSNP_134	106	0,5412		0,0,2706	no	missense,missense	FAM86A	NM_201400.2,NM_201598.2	29,29	0,18,4193	TT,TC,CC		0.0,0.598,0.2137	benign,benign	285/331,251/297	5139146	18,8404	1505	2706	4211	5079147	SO:0001583	missense	196483			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.854G>A	16.37:g.5139146C>T	ENSP00000398502:p.Arg285His		5079147	D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	c	14.14	2.445111	0.43429	0.00598	0.0	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.14022	2.54;2.54	4.05	3.1	0.35709	.	2.545180	0.01315	U	0.010754	T	0.33089	0.0851	H	0.94462	3.54	0.58432	D	0.999994	P;D	0.54964	0.931;0.969	P;P	0.50109	0.497;0.631	T	0.39860	-0.9593	10	0.62326	D	0.03	.	9.4547	0.38747	0.0:0.8972:0.0:0.1028	.	251;285	Q96G04-2;Q96G04	.;FA86A_HUMAN	H	251;285	ENSP00000389710:R251H;ENSP00000398502:R285H	ENSP00000398502:R285H	R	-	2	0	FAM86A	5079147	1.000000	0.71417	0.948000	0.38648	0.006000	0.05464	5.711000	0.68400	1.057000	0.40506	-0.405000	0.06341	CGC		0.677	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		T	5139146	C	T	5139146	3	4	265	1	0	0	0	0	1	0	0	0	5643	768	27	1	146	1	FAM86A	16	5139146	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09		5139146	85215607	59	14927											
ITGAE	3682	genome.wustl.edu	37	17	3655137	3655137	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr17:3655137C>A	ENST00000263087.4	-	15	1798	c.1700G>T	c.(1699-1701)aGt>aTt	p.S567I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	567					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GGGGTGCCCACTCAGTATGCG	0.582																																					NSCLC(182;635 2928 8995 38788)											0			17											59	62	61					17																	3655137		2203	4300	6503	3601886	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1700G>T	17.37:g.3655137C>A	ENSP00000263087:p.Ser567Ile		3601886	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389604	0.25118	.	.	ENSG00000083457	ENST00000263087	T	0.11385	2.78	3.89	-2.22	0.06952	.	.	.	.	.	T	0.09024	0.0223	L	0.61036	1.89	0.09310	N	1	P	0.49961	0.93	B	0.41571	0.36	T	0.17806	-1.0357	9	0.34782	T	0.22	.	0.6534	0.00830	0.1719:0.3445:0.1683:0.3153	.	567	P38570	ITAE_HUMAN	I	567	ENSP00000263087:S567I	ENSP00000263087:S567I	S	-	2	0	ITGAE	3601886	0.001000	0.12720	0.226000	0.23910	0.352000	0.29268	-0.418000	0.07080	-0.323000	0.08602	0.555000	0.69702	AGT		0.582	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		A	3655137	C	A	3655137	3	1	265	1	0	0	0	0	1	0	0	0	7885	565	20	3	1907	3	ITGAE	17	3655137	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09		3655137	77540073	60	14928											
TP53	7157	genome.wustl.edu	37	17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr17:7578492C>T	ENST00000269305.4	-	5	627	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*	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	146	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)	TGGAATCAACCCACAGCTGCA	0.602		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"	65	Substitution - Nonsense(45)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Missense(2)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	lung(9)|liver(8)|breast(7)|large_intestine(6)|upper_aerodigestive_tract(5)|endometrium(5)|central_nervous_system(4)|oesophagus(4)|ovary(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|soft_tissue(1)|biliary_tract(1)|pancreas(1)	17											58	57	57					17																	7578492		2203	4300	6503	7519217	SO:0001587	stop_gained	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.438G>A	17.37:g.7578492C>T	ENSP00000269305:p.Trp146*		7519217	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653238	0.47362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	4.52	0.55395	.	0.722123	0.13656	N	0.371928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8394	7.2875	0.26348	0.1676:0.7467:0.0:0.0857	.	.	.	.	X	146;146;146;146;146;146;135;53;14;53;14;146	.	ENSP00000269305:W146X	W	-	3	0	TP53	7519217	0.545000	0.26449	0.478000	0.27316	0.067000	0.16453	1.174000	0.31932	1.452000	0.47756	0.655000	0.94253	TGG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578492	C	T	7578492	4	4	265	1	0	0	0	0	0	1	0	0	16381	624	22	2	860	2	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	3923355	7578492	73616718	61	14929											
DNAH2	146754	genome.wustl.edu	37	17	7691402	7691402	+	Splice_Site	SNP	A	A	C			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr17:7691402A>C	ENST00000572933.1	+	44	8201		c.e44-1		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTCAACTCCAGGCTGAGGTG	0.532																																																0			17											69	69	69					17																	7691402		2203	4300	6503	7632127	SO:0001630	splice_region_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6742-1A>C	17.37:g.7691402A>C			7632127	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.074161	0.55646	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.37	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8597	0.41107	0.8282:0.1718:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH2	7632127	1.000000	0.71417	0.058000	0.19502	0.357000	0.29423	7.647000	0.83462	2.034000	0.60081	0.459000	0.35465	.		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Intron	C	7691402	A	C	7691402	5	2	265	1	0	0	0	0	0	0	1	0	4602	202	7	5	6910	5	DNAH2	17	7691402	Splice_Site	SNP	A	TCGA-24-1850-01A-01W-0639-09	112910	7691402	73503808	62	14930											
MYOCD	93649	genome.wustl.edu	37	17	12656467	12656467	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr17:12656467C>G	ENST00000343344.4	+	10	1862	c.1862C>G	c.(1861-1863)aCc>aGc	p.T621S	MYOCD_ENST00000425538.1_Missense_Mutation_p.T621S|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.T525S			Q8IZQ8	MYCD_HUMAN	myocardin	621					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCAGATCAAACCAATGTACTT	0.522																																																0			17											148	156	153					17																	12656467		2203	4300	6503	12597192	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1862C>G	17.37:g.12656467C>G	ENSP00000341835:p.Thr621Ser		12597192	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869579	0.00547	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.39592	1.07;1.11	5.6	2.26	0.28386	.	0.380726	0.30419	N	0.009670	T	0.18635	0.0447	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.12013	0.003;0.003;0.005;0.003	B;B;B;B	0.12156	0.003;0.007;0.007;0.003	T	0.25398	-1.0133	10	0.07030	T	0.85	-7.991	8.9697	0.35899	0.2476:0.3666:0.3857:0.0	.	340;525;621;621	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	S	340;621;621;525;326	ENSP00000341835:T621S;ENSP00000400148:T326S	ENSP00000341835:T621S	T	+	2	0	MYOCD	12597192	0.004000	0.15560	0.053000	0.19242	0.008000	0.06430	0.905000	0.28504	0.679000	0.31345	0.655000	0.94253	ACC		0.522	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		G	12656467	C	G	12656467	3	3	265	1	0	0	0	0	1	0	0	0	10087	507	18	3	1900	3	MYOCD	17	12656467	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	4965065	12656467	68538743	63	14931											
RAPGEFL1	51195	genome.wustl.edu	37	17	38345176	38345176	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr17:38345176C>T	ENST00000456989.2	+	5	485	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R92C|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.R92C|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R141C			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	298					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCGCCACTTCCGCCGGATAGA	0.632																																					Esophageal Squamous(28;274 750 6870 14218 42203)											0			17											53	54	54					17																	38345176		2203	4300	6503	35598702	SO:0001583	missense	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.439C>T	17.37:g.38345176C>T	ENSP00000394530:p.Arg147Cys		35598702		Missense_Mutation	SNP	ENST00000456989.2	37		.	.	.	.	.	.	.	.	.	.	C	25.9	4.684381	0.88639	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615;ENST00000538981	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.73	5.73	0.89815	Ras guanine nucleotide exchange factor, domain (1);	0.210293	0.40064	N	0.001200	T	0.57198	0.2037	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;P	0.58266	0.836;0.719	T	0.58595	-0.7609	10	0.72032	D	0.01	.	18.65	0.91427	0.0:1.0:0.0:0.0	.	28;298	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	C	147;92;141;92;297;92;92	ENSP00000394530:R147C;ENSP00000440226:R92C;ENSP00000438631:R141C;ENSP00000408322:R92C;ENSP00000441059:R92C	ENSP00000264644:R297C	R	+	1	0	RAPGEFL1	35598702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.863000	0.62983	2.695000	0.91970	0.655000	0.94253	CGC		0.632	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		T	38345176	C	T	38345176	3	4	265	1	0	0	0	0	1	0	0	0	13052	652	23	1	284	1	RAPGEFL1	17	38345176	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	25688709	38345176	42850034	64	14932											
CACNG4	27092	genome.wustl.edu	37	17	65027052	65027052	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr17:65027052T>A	ENST00000262138.3	+	4	918	c.916T>A	c.(916-918)Ttt>Att	p.F306I	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	306					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGTGCATGACTTTTTCCAGCA	0.622																																																0			17											49	48	48					17																	65027052		2203	4300	6503	62457514	SO:0001583	missense	27092			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.916T>A	17.37:g.65027052T>A	ENSP00000262138:p.Phe306Ile		62457514	B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.903125	0.52227	.	.	ENSG00000075461	ENST00000262138	T	0.54071	0.59	5.19	4.11	0.48088	.	0.102976	0.64402	D	0.000003	T	0.36413	0.0966	L	0.36672	1.1	0.41121	D	0.985815	P	0.34462	0.454	B	0.24394	0.053	T	0.11446	-1.0587	10	0.23302	T	0.38	-18.0027	10.9506	0.47327	0.0:0.0736:0.0:0.9263	.	306	Q9UBN1	CCG4_HUMAN	I	306	ENSP00000262138:F306I	ENSP00000262138:F306I	F	+	1	0	CACNG4	62457514	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.872000	0.69636	0.820000	0.34516	0.533000	0.62120	TTT		0.622	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		A	65027052	T	A	65027052	3	1	265	1	0	0	0	0	1	0	0	0	2559	1609	56	5	930	5	CACNG4	17	65027052	Missense_Mutation	SNP	T	TCGA-24-1850-01A-01W-0639-09	26681876	65027052	16168158	65	14933											
EPS15L1	58513	genome.wustl.edu	37	19	16552784	16552784	+	Silent	SNP	C	C	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr19:16552784C>T	ENST00000248070.6	-	3	223	c.84G>A	c.(82-84)ccG>ccA	p.P28P	EPS15L1_ENST00000535753.2_Silent_p.P28P|CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000594975.1_Silent_p.P28P|EPS15L1_ENST00000455140.2_Silent_p.P28P|EPS15L1_ENST00000597937.1_Silent_p.P28P	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	28	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGTGTATGCCGGATCGACCT	0.512											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											84	88	87					19																	16552784		2203	4300	6503	16413784	SO:0001819	synonymous_variant	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.84G>A	19.37:g.16552784C>T		711	16413784	A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	CCDS32944.1																																																																																				0.512	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		T	16552784	C	T	16552784	2	4	265	1	0	0	0	0	0	0	0	1	5193	639	23	1		1	EPS15L1	19	16552784	Silent	SNP	C	TCGA-24-1850-01A-01W-0639-09		16552784	42576199	66	14934											
CADM4	199731	genome.wustl.edu	37	19	44129321	44129321	+	Silent	SNP	C	C	T	rs145789919		TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr19:44129321C>T	ENST00000222374.2	-	7	885	c.837G>A	c.(835-837)ccG>ccA	p.P279P	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	279	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				ATACCAGACCCGGCAGCGTGA	0.612																																																0			19											54	45	48					19																	44129321		2203	4300	6503	48821161	SO:0001819	synonymous_variant	199731			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.837G>A	19.37:g.44129321C>T			48821161	B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	CCDS12627.1																																																																																				0.612	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		T	44129321	C	T	44129321	2	4	265	1	0	0	0	0	0	0	0	1	2569	639	23	1		1	CADM4	19	44129321	Silent	SNP	C	TCGA-24-1850-01A-01W-0639-09	27576537	44129321	14999662	67	14935											
ZSCAN1	284312	genome.wustl.edu	37	19	58564850	58564850	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr19:58564850C>A	ENST00000282326.1	+	6	905	c.658C>A	c.(658-660)Ctt>Att	p.L220I		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	220					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCTGAGGACCTTCTCGCAGG	0.627																																																0			19											51	54	53					19																	58564850		2203	4300	6503	63256662	SO:0001583	missense	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.658C>A	19.37:g.58564850C>A	ENSP00000282326:p.Leu220Ile		63256662	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	2.392	-0.339562	0.05243	.	.	ENSG00000152467	ENST00000282326	T	0.04406	3.63	1.04	-1.57	0.08506	.	.	.	.	.	T	0.01800	0.0057	N	0.03608	-0.345	0.09310	N	0.999993	B	0.10296	0.003	B	0.06405	0.002	T	0.45760	-0.9239	9	0.30854	T	0.27	.	1.8275	0.03124	0.319:0.4415:0.0:0.2395	.	220	Q8NBB4	ZSCA1_HUMAN	I	220	ENSP00000282326:L220I	ENSP00000282326:L220I	L	+	1	0	ZSCAN1	63256662	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.170000	0.03118	-0.472000	0.06881	-1.337000	0.01257	CTT		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		A	58564850	C	A	58564850	3	1	265	1	0	0	0	0	1	0	0	0	18226	681	24	3	672	3	ZSCAN1	19	58564850	Missense_Mutation	SNP	C	TCGA-24-1850-01A-01W-0639-09	14435529	58564850	564133	68	14936											
NFATC2	4773	genome.wustl.edu	37	20	50091995	50091995	+	Splice_Site	SNP	G	G	A	rs375019669		TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr20:50091995G>A	ENST00000396009.3	-	4	1754	c.1535C>T	c.(1534-1536)aCc>aTc	p.T512I	NFATC2_ENST00000414705.1_Splice_Site_p.T492I|NFATC2_ENST00000609943.1_Splice_Site_p.T492I|NFATC2_ENST00000610033.1_Splice_Site_p.T293I|NFATC2_ENST00000371564.3_Splice_Site_p.T512I|NFATC2_ENST00000609507.1_Splice_Site_p.T293I	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	512	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CAGCCCTTACGTTGCCCTCAT	0.562													G|||	1	0.000199681	8e-04	0	5008	,	,		15126	0		0	False		,,,				2504	0															0			20											156	160	159					20																	50091995		2203	4300	6503	49525402	SO:0001630	splice_region_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1535+1C>T	20.37:g.50091995G>A			49525402	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	8.531	0.870919	0.17322	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.42131	0.98;0.98;0.98	5.26	5.26	0.73747	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.109664	0.64402	D	0.000007	T	0.24084	0.0583	N	0.08118	0	0.52501	D	0.999959	P;P;P;P	0.51147	0.689;0.942;0.89;0.737	B;B;B;B	0.42555	0.085;0.391;0.24;0.24	T	0.04053	-1.0981	9	.	.	.	-30.6823	12.262	0.54655	0.0777:0.0:0.9223:0.0	.	492;492;512;512	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	I	512;512;492	ENSP00000360619:T512I;ENSP00000379330:T512I;ENSP00000396471:T492I	.	T	-	2	0	NFATC2	49525402	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	6.169000	0.71913	2.448000	0.82819	0.585000	0.79938	ACC		0.562	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	Missense_Mutation	A	50091995	G	A	50091995	5	1	265	1	0	0	0	0	0	0	1	0	10362	1159	40	1	1318	1	NFATC2	20	50091995	Splice_Site	SNP	G	TCGA-24-1850-01A-01W-0639-09		50091995	12933525	69	14937											
RAE1	8480	genome.wustl.edu	37	20	55942077	55942077	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr20:55942077G>T	ENST00000395841.2	+	7	896	c.476G>T	c.(475-477)cGa>cTa	p.R159L	RAE1_ENST00000527947.1_Missense_Mutation_p.R159L|RAE1_ENST00000371242.2_Missense_Mutation_p.R159L|RAE1_ENST00000395840.2_Missense_Mutation_p.R159L	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	159					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			TGGGATACTCGATCGTCAAAT	0.378																																																0			20											177	168	171					20																	55942077		2203	4300	6503	55375484	SO:0001583	missense	8480			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.476G>T	20.37:g.55942077G>T	ENSP00000379182:p.Arg159Leu		55375484	A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003222	0.93287	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87877	0.6288	H	0.94658	3.565	0.80722	D	1	P;D;D	0.76494	0.681;0.999;0.999	B;D;D	0.70487	0.068;0.969;0.969	D	0.90286	0.4319	10	0.72032	D	0.01	-11.8278	14.5539	0.68086	0.0693:0.0:0.9307:0.0	.	159;159;159	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	L	159	ENSP00000379182:R159L;ENSP00000360286:R159L;ENSP00000432609:R159L;ENSP00000379181:R159L	ENSP00000360286:R159L	R	+	2	0	RAE1	55375484	1.000000	0.71417	0.744000	0.31058	0.988000	0.76386	9.177000	0.94849	2.832000	0.97577	0.655000	0.94253	CGA		0.378	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			T	55942077	G	T	55942077	3	4	265	1	0	0	0	0	1	0	0	0	13001	1058	37	3	498	3	RAE1	20	55942077	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09	5850082	55942077	7083443	70	14938											
IFNAR1	3454	genome.wustl.edu	37	21	34727745	34727745	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr21:34727745G>A	ENST00000270139.3	+	11	1716	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	IFNAR1_ENST00000442357.2_Missense_Mutation_p.E461K|IFNAR1_ENST00000416947.2_Missense_Mutation_p.E453K	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	522					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	TCAAACTGATGAAGATCATAA	0.318																																					Esophageal Squamous(73;817 1211 32990 35667 42746)											0			21											86	93	91					21																	34727745		2203	4300	6503	33649615	SO:0001583	missense	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1564G>A	21.37:g.34727745G>A	ENSP00000270139:p.Glu522Lys		33649615	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327745	0.41197	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.44482	0.92;1.05;1.63	5.89	4.91	0.64330	.	1.032650	0.07646	N	0.931180	T	0.33089	0.0851	L	0.48642	1.525	0.09310	N	1	B	0.26902	0.163	B	0.22880	0.042	T	0.33701	-0.9858	10	0.10902	T	0.67	-16.5148	6.8729	0.24131	0.141:0.0:0.859:0.0	.	522	P17181	INAR1_HUMAN	K	453;522;461	ENSP00000395606:E453K;ENSP00000270139:E522K;ENSP00000407406:E461K	ENSP00000270139:E522K	E	+	1	0	IFNAR1	33649615	0.011000	0.17503	0.016000	0.15963	0.173000	0.22820	2.070000	0.41491	2.783000	0.95769	0.655000	0.94253	GAA		0.318	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			A	34727745	G	A	34727745	3	1	265	1	0	0	0	0	1	0	0	0	7544	1291	45	2	1606	2	IFNAR1	21	34727745	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09		34727745	13402150	71	14939											
CHEK2	11200	genome.wustl.edu	37	22	29130576	29130576	+	Missense_Mutation	SNP	G	G	A	rs558321010		TCGA-24-1850-01A-01W-0639-09	TCGA-24-1850-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3162c0d3-7e11-454d-ad20-8b4bb8c70181	2169c00c-6d8c-4ede-90c3-0e3650291be7	g.chr22:29130576G>A	ENST00000405598.1	-	3	325	c.134C>T	c.(133-135)aCg>aTg	p.T45M	CHEK2_ENST00000348295.3_Missense_Mutation_p.T45M|CHEK2_ENST00000382566.1_Missense_Mutation_p.T45M|CHEK2_ENST00000544772.1_De_novo_Start_InFrame|CHEK2_ENST00000403642.1_Missense_Mutation_p.T45M|CHEK2_ENST00000328354.6_Missense_Mutation_p.T45M|CHEK2_ENST00000402731.1_Missense_Mutation_p.T45M|CHEK2_ENST00000382565.1_Missense_Mutation_p.T45M|CHEK2_ENST00000382578.1_Missense_Mutation_p.T45M|CHEK2_ENST00000382580.2_Missense_Mutation_p.T45M|CHEK2_ENST00000404276.1_Missense_Mutation_p.T45M			O96017	CHK2_HUMAN	checkpoint kinase 2	45					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTTTGGCATCGTGCTGGTAGA	0.562			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					G|||	1	0.000199681	0	0.0014	5008	,	,		16359	0		0	False		,,,				2504	0					yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0			22											149	131	137					22																	29130576		2203	4300	6503	27460576	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.134C>T	22.37:g.29130576G>A	ENSP00000386087:p.Thr45Met		27460576	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377850	0.61735	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;T;D	0.94092	0.72;-0.29;-0.35;-3.35;-0.28;-0.28;-0.28;2.28;-0.29;0.72;0.18;2.28;-2.39	4.87	4.87	0.63330	.	0.425641	0.29515	N	0.011922	D	0.92018	0.7471	N	0.19112	0.55	0.25355	N	0.988833	D;D;D;D;D;D	0.71674	0.998;0.998;0.997;0.998;0.997;0.998	P;P;P;P;P;P	0.56916	0.809;0.809;0.649;0.809;0.649;0.809	D	0.86616	0.1876	10	0.59425	D	0.04	-5.3586	15.1354	0.72562	0.0:0.1419:0.8581:0.0	.	45;45;45;45;45;45	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	M	45;45;45;45;45;45;45;45;45;45;45;45;45;55	ENSP00000329012:T45M;ENSP00000372021:T45M;ENSP00000372006:T45M;ENSP00000372007:T45M;ENSP00000329178:T45M;ENSP00000385747:T45M;ENSP00000386087:T45M;ENSP00000372023:T45M;ENSP00000384919:T45M;ENSP00000384835:T45M;ENSP00000397478:T45M;ENSP00000408065:T45M;ENSP00000381099:T55M	ENSP00000329178:T45M	T	-	2	0	CHEK2	27460576	0.978000	0.34361	0.367000	0.25926	0.024000	0.10985	2.370000	0.44240	2.643000	0.89663	0.655000	0.94253	ACG		0.562	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		A	29130576	G	A	29130576	3	1	265	1	0	0	0	0	1	0	0	0	3335	1145	40	1	1686	1	CHEK2	22	29130576	Missense_Mutation	SNP	G	TCGA-24-1850-01A-01W-0639-09		29130576	22173990	72	14940											
LHX8	431707	broad.mit.edu	37	1	75626511	75626511	+	Silent	SNP	A	A	C			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr1:75626511A>C	ENST00000294638.5	+	10	1666	c.1002A>C	c.(1000-1002)tcA>tcC	p.S334S	LHX8_ENST00000356261.3_Silent_p.S324S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	334					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S334S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TAGCTCATTCACCAACAACTC	0.353																																																1	Substitution - coding silent(1)	ovary(1)	1											158	152	154					1																	75626511		2203	4300	6503	75399099	SO:0001819	synonymous_variant	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.1002A>C	1.37:g.75626511A>C			75399099	E9PGE3	Silent	SNP	ENST00000294638.5	37	CCDS30756.1																																																																																				0.353	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		C	75626511	A	C	75626511	2	2	266	1	0	0	0	0	0	0	0	1	8776	146	6	5		5	LHX8	1	75626511	Silent	SNP	A	TCGA-24-2019-01A-02W-0722-08		75626511	173624110	1	14941											
SLC44A5	204962	broad.mit.edu	37	1	75704260	75704260	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr1:75704260C>G	ENST00000370855.5	-	10	707	c.594G>C	c.(592-594)aaG>aaC	p.K198N	SLC44A5_ENST00000535611.1_Missense_Mutation_p.K68N|SLC44A5_ENST00000370859.3_Missense_Mutation_p.K198N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	198					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K198N(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GAAACATCATCTTACTTCCTA	0.333																																																1	Substitution - Missense(1)	ovary(1)	1											178	155	163					1																	75704260		2203	4300	6503	75476848	SO:0001583	missense	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.594G>C	1.37:g.75704260C>G	ENSP00000359892:p.Lys198Asn		75476848	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	5.170	0.216968	0.09810	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.14766	2.88;2.88;2.48	4.9	-0.562	0.11781	.	0.615681	0.18032	N	0.153888	T	0.02418	0.0074	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.001	B;B;B;B;B	0.09377	0.001;0.004;0.002;0.002;0.004	T	0.45673	-0.9245	10	0.20519	T	0.43	-0.5292	5.4773	0.16702	0.0:0.4357:0.1395:0.4248	.	192;237;198;198;237	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	N	198;237;198;68;191	ENSP00000359896:K198N;ENSP00000359892:K198N;ENSP00000443090:K68N	ENSP00000359892:K198N	K	-	3	2	SLC44A5	75476848	0.347000	0.24853	0.000000	0.03702	0.000000	0.00434	-0.023000	0.12456	-0.066000	0.12998	-1.210000	0.01631	AAG		0.333	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		G	75704260	C	G	75704260	3	3	266	1	0	0	0	0	1	0	0	0	14642	912	32	3	1736	3	SLC44A5	1	75704260	Missense_Mutation	SNP	C	TCGA-24-2019-01A-02W-0722-08	77749	75704260	173546361	2	14942											
PCGF1	84759	broad.mit.edu	37	2	74732884	74732884	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr2:74732884T>C	ENST00000233630.6	-	6	1455	c.544A>G	c.(544-546)Aag>Gag	p.K182E	LBX2_ENST00000550249.1_5'Flank|LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000341396.2_5'Flank|LBX2_ENST00000460508.3_5'Flank|PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	182	Required for repressor activity.|Sufficient for interaction with BCOR and BCORL1.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.K170E(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						CTTTTATTCTTGTCTTTGCCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											178	185	183					2																	74732884		2203	4300	6503	74586392	SO:0001583	missense	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.544A>G	2.37:g.74732884T>C	ENSP00000233630:p.Lys182Glu		74586392	Q7Z506	Missense_Mutation	SNP	ENST00000233630.6	37	CCDS1946.2	.	.	.	.	.	.	.	.	.	.	T	11.96	1.794883	0.31777	.	.	ENSG00000115289	ENST00000233630	T	0.23552	1.9	4.28	4.28	0.50868	.	0.612659	0.17406	N	0.175359	T	0.15478	0.0373	L	0.34521	1.04	0.37548	D	0.918563	P	0.40360	0.714	B	0.35899	0.213	T	0.05053	-1.0909	10	0.08179	T	0.78	-11.4504	9.9913	0.41872	0.0:0.0:0.0:1.0	.	182	Q9BSM1	PCGF1_HUMAN	E	182	ENSP00000233630:K182E	ENSP00000233630:K182E	K	-	1	0	PCGF1	74586392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.071000	0.50041	1.911000	0.55334	0.533000	0.62120	AAG		0.532	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		C	74732884	T	C	74732884	3	2	266	1	0	0	0	0	1	0	0	0	11574	1821	63	4	251	4	PCGF1	2	74732884	Missense_Mutation	SNP	T	TCGA-24-2019-01A-02W-0722-08		74732884	168466489	3	14943											
THSD7B	80731	broad.mit.edu	37	2	138169293	138169293	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr2:138169293G>T	ENST00000409968.1	+	14	2988	c.2810G>T	c.(2809-2811)tGc>tTc	p.C937F	THSD7B_ENST00000272643.3_Missense_Mutation_p.C937F|THSD7B_ENST00000413152.2_Missense_Mutation_p.C906F|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	937	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.C937F(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGGTCAGATTGCATTCTTCCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											135	130	131					2																	138169293		1932	4129	6061	137885763	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2810G>T	2.37:g.138169293G>T	ENSP00000387145:p.Cys937Phe		137885763		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.229964	0.79688	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	D;D;D	0.98585	-5.01;-5.01;-5.01	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99620	1.0983	10	0.62326	D	0.03	.	16.364	0.83307	0.0:0.0:0.8669:0.1331	.	937;906	Q9C0I4;C9JKN6	THS7B_HUMAN;.	F	937;937;906	ENSP00000387145:C937F;ENSP00000272643:C937F;ENSP00000413841:C906F	ENSP00000272643:C937F	C	+	2	0	THSD7B	137885763	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	1.460000	0.47911	0.557000	0.71058	TGC		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	138169293	G	T	138169293	3	4	266	1	0	0	0	0	1	0	0	0	15880	1319	46	3	2767	3	THSD7B	2	138169293	Missense_Mutation	SNP	G	TCGA-24-2019-01A-02W-0722-08	63436409	138169293	105030080	4	14944											
FASTKD1	79675	broad.mit.edu	37	2	170417203	170417203	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr2:170417203G>C	ENST00000453153.2	-	5	1011	c.665C>G	c.(664-666)aCc>aGc	p.T222S	FASTKD1_ENST00000453929.2_Missense_Mutation_p.T222S	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	222					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.T222S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AGAATCTATGGTGTCAAAAAG	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											50	50	50					2																	170417203		2203	4298	6501	170125449	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.665C>G	2.37:g.170417203G>C	ENSP00000400513:p.Thr222Ser		170125449	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241277	0.22711	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000417376;ENST00000438035;ENST00000445210	T;T	0.19250	2.16;2.16	5.45	2.52	0.30459	.	0.414144	0.27294	N	0.020028	T	0.18383	0.0441	L	0.52126	1.63	0.09310	N	0.999997	B;B;B	0.32693	0.38;0.373;0.256	B;B;B	0.34652	0.091;0.187;0.091	T	0.17349	-1.0372	10	0.20519	T	0.43	-0.2572	9.5254	0.39160	0.0:0.2361:0.3999:0.364	.	199;222;222	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	S	222;222;50;199;222	ENSP00000400513:T222S;ENSP00000403229:T222S	ENSP00000408667:T50S	T	-	2	0	FASTKD1	170125449	0.981000	0.34729	0.184000	0.23157	0.634000	0.38068	1.805000	0.38883	0.212000	0.20703	0.655000	0.94253	ACC		0.333	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		C	170417203	G	C	170417203	3	2	266	1	0	0	0	0	1	0	0	0	5685	1261	44	3	1922	3	FASTKD1	2	170417203	Missense_Mutation	SNP	G	TCGA-24-2019-01A-02W-0722-08	32247910	170417203	72782170	5	14945											
AOX1	316	broad.mit.edu	37	2	201527645	201527645	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr2:201527645G>A	ENST00000374700.2	+	31	3737	c.3496G>A	c.(3496-3498)Gct>Act	p.A1166T	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1166					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A1166T(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGTTTATGGAGCTGCCTGTTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											161	151	154					2																	201527645		2203	4300	6503	201235890	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3496G>A	2.37:g.201527645G>A	ENSP00000363832:p.Ala1166Thr		201235890	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455933	0.63401	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.58940	0.3;0.3;0.89	5.91	4.86	0.63082	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.110120	0.64402	D	0.000009	T	0.63827	0.2544	L	0.60904	1.88	0.38339	D	0.944024	P	0.40000	0.698	P	0.48524	0.58	T	0.66870	-0.5814	10	0.46703	T	0.11	-46.0189	14.8848	0.70560	0.119:0.0:0.881:0.0	.	1166	Q06278	ADO_HUMAN	T	1166;52;6	ENSP00000363832:A1166T;ENSP00000260930:A52T;ENSP00000413326:A6T	ENSP00000260930:A52T	A	+	1	0	AOX1	201235890	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.530000	0.67141	2.809000	0.96659	0.555000	0.69702	GCT		0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		A	201527645	G	A	201527645	3	1	266	1	0	0	0	0	1	0	0	0	729	971	34	2	3618	2	AOX1	2	201527645	Missense_Mutation	SNP	G	TCGA-24-2019-01A-02W-0722-08	31110442	201527645	41671728	6	14946											
ZDBF2	57683	broad.mit.edu	37	2	207172506	207172506	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr2:207172506A>G	ENST00000374423.3	+	5	3640	c.3254A>G	c.(3253-3255)gAa>gGa	p.E1085G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1085							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1085G(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGATTCTGAACAACTTCAG	0.313																																																1	Substitution - Missense(1)	ovary(1)	2											47	46	47					2																	207172506		1812	4075	5887	206880751	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3254A>G	2.37:g.207172506A>G	ENSP00000363545:p.Glu1085Gly		206880751	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	2.970	-0.212708	0.06140	.	.	ENSG00000204186	ENST00000374423	T	0.52295	0.67	3.89	-7.79	0.01218	.	1.868530	0.03517	N	0.220362	T	0.27454	0.0674	N	0.25647	0.755	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.10245	-1.0638	10	0.21014	T	0.42	.	4.2939	0.10892	0.1403:0.5033:0.0927:0.2637	.	1085	Q9HCK1	ZDBF2_HUMAN	G	1085	ENSP00000363545:E1085G	ENSP00000363545:E1085G	E	+	2	0	ZDBF2	206880751	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.496000	0.06436	-2.096000	0.00852	-1.255000	0.01485	GAA		0.313	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		G	207172506	A	G	207172506	3	3	266	1	0	0	0	0	1	0	0	0	17599	246	9	4	3264	4	ZDBF2	2	207172506	Missense_Mutation	SNP	A	TCGA-24-2019-01A-02W-0722-08	5644861	207172506	36026867	7	14947											
MITF	4286	broad.mit.edu	37	3	70008522	70008522	+	Missense_Mutation	SNP	G	G	T	rs542163629		TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr3:70008522G>T	ENST00000448226.2	+	9	1257	c.1130G>T	c.(1129-1131)cGa>cTa	p.R377L	MITF_ENST00000314589.5_Missense_Mutation_p.R355L|MITF_ENST00000328528.6_Missense_Mutation_p.R370L|MITF_ENST00000314557.6_Missense_Mutation_p.R264L|MITF_ENST00000394355.2_Missense_Mutation_p.R346L|MITF_ENST00000472437.1_Missense_Mutation_p.R319L|MITF_ENST00000352241.4_Missense_Mutation_p.R371L|MITF_ENST00000394351.3_Missense_Mutation_p.R270L|MITF_ENST00000531774.1_Missense_Mutation_p.R208L			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	377	Leucine-zipper.				bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.R270L(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTGAAAACCGACAGAAGAAA	0.463			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	1	Substitution - Missense(1)	ovary(1)	3											86	75	79					3																	70008522		2203	4300	6503	70091212	SO:0001583	missense	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1130G>T	3.37:g.70008522G>T	ENSP00000391803:p.Arg377Leu		70091212	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.410380	0.96072	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T;T	0.34472	2.61;2.14;2.38;2.61;1.36;2.59;2.59;2.4;1.84;2.38	6.06	6.06	0.98353	.	0.049815	0.85682	D	0.000000	T	0.62258	0.2413	M	0.84219	2.685	0.58432	D	0.999999	D;D;D;D;D;P;D	0.76494	0.993;0.996;0.996;0.998;0.999;0.867;0.996	D;D;D;D;D;P;D	0.74023	0.932;0.969;0.969;0.982;0.982;0.697;0.969	T	0.64076	-0.6492	9	.	.	.	.	13.7717	0.63029	0.0697:0.0:0.9303:0.0	.	319;270;264;346;355;370;371	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	L	371;377;319;370;361;355;346;264;270;208	ENSP00000295600:R371L;ENSP00000391803:R377L;ENSP00000418845:R319L;ENSP00000327867:R370L;ENSP00000398639:R361L;ENSP00000324443:R355L;ENSP00000377884:R346L;ENSP00000324246:R264L;ENSP00000377880:R270L;ENSP00000435909:R208L	.	R	+	2	0	MITF	70091212	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	8.061000	0.89467	2.882000	0.98803	0.655000	0.94253	CGA		0.463	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		T	70008522	G	T	70008522	3	4	266	1	0	0	0	0	1	0	0	0	9596	1058	37	3	1385	3	MITF	3	70008522	Missense_Mutation	SNP	G	TCGA-24-2019-01A-02W-0722-08		70008522	128013908	8	14948											
UGT2B10	7365	broad.mit.edu	37	4	69681921	69681921	+	Missense_Mutation	SNP	C	C	A	rs200957276		TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr4:69681921C>A	ENST00000265403.7	+	1	211	c.184C>A	c.(184-186)Ctt>Att	p.L62I	UGT2B10_ENST00000458688.2_Missense_Mutation_p.L62I	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	62					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L62I(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGCTTCCATTCTTTTTGATCC	0.388																																					Melanoma(133;755 1763 25578 26334 46021)											1	Substitution - Missense(1)	ovary(1)	4											92	99	96					4																	69681921		2203	4296	6499	69716510	SO:0001583	missense	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.184C>A	4.37:g.69681921C>A	ENSP00000265403:p.Leu62Ile		69716510	A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37		.	.	.	.	.	.	.	.	.	.	c	5.738	0.320603	0.10845	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.60299	0.2;0.21	2.63	-5.27	0.02763	.	0.107986	0.36167	U	0.002758	T	0.45094	0.1325	L	0.55990	1.75	0.09310	N	1	B;B	0.19583	0.003;0.037	B;B	0.23419	0.019;0.046	T	0.22521	-1.0214	10	0.41790	T	0.15	.	9.893	0.41300	0.0:0.4043:0.0:0.5957	.	62;62	B4DPP1;P36537	.;UDB10_HUMAN	I	62	ENSP00000265403:L62I;ENSP00000413420:L62I	ENSP00000265403:L62I	L	+	1	0	UGT2B10	69716510	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.108000	0.03313	-1.555000	0.01697	-1.140000	0.01884	CTT		0.388	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		A	69681921	C	A	69681921	3	1	266	1	0	0	0	0	1	0	0	0	16956	913	32	3	186	3	UGT2B10	4	69681921	Missense_Mutation	SNP	C	TCGA-24-2019-01A-02W-0722-08		69681921	121472355	9	14949											
PCDH1	5097	broad.mit.edu	37	5	141248436	141248436	+	Missense_Mutation	SNP	C	C	T	rs566915735		TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr5:141248436C>T	ENST00000394536.3	-	2	740	c.601G>A	c.(601-603)Ggt>Agt	p.G201S	PCDH1_ENST00000536585.1_Missense_Mutation_p.G179S|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000503492.1_Missense_Mutation_p.G201S|PCDH1_ENST00000456271.1_Missense_Mutation_p.G201S|PCDH1_ENST00000287008.3_Missense_Mutation_p.G201S	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G201S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GATGCCACACCGTTGGGACCA	0.597																																					Ovarian(132;1609 1739 4190 14731 45037)											1	Substitution - Missense(1)	ovary(1)	5											192	185	188					5																	141248436		2203	4300	6503	141228620	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.601G>A	5.37:g.141248436C>T	ENSP00000378043:p.Gly201Ser		141228620	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.772396	0.90108	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T;T	0.60672	0.79;0.17;0.17;0.17;0.17;0.17	4.39	4.39	0.52855	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000067	T	0.66597	0.2805	L	0.37561	1.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.67465	-0.5664	10	0.49607	T	0.09	.	14.8544	0.70326	0.0:1.0:0.0:0.0	.	201;201	Q08174;Q08174-2	PCDH1_HUMAN;.	S	201;201;201;201;212;179	ENSP00000424667:G201S;ENSP00000287008:G201S;ENSP00000378043:G201S;ENSP00000403497:G201S;ENSP00000350122:G212S;ENSP00000438825:G179S	ENSP00000287008:G201S	G	-	1	0	PCDH1	141228620	1.000000	0.71417	0.938000	0.37757	0.977000	0.68977	5.811000	0.69187	2.442000	0.82660	0.550000	0.68814	GGT		0.597	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		T	141248436	C	T	141248436	3	4	266	1	0	0	0	0	1	0	0	0	11506	652	23	1	3212	1	PCDH1	5	141248436	Missense_Mutation	SNP	C	TCGA-24-2019-01A-02W-0722-08		141248436	39666824	10	14950											
GPR151	134391	broad.mit.edu	37	5	145894800	145894800	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr5:145894800C>T	ENST00000311104.2	-	1	953	c.877G>A	c.(877-879)Gtc>Atc	p.V293I		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V293I(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACATCAAGACTTGAGACAGG	0.498																																					Pancreas(78;420 1386 18535 37114 49710)											1	Substitution - Missense(1)	ovary(1)	5											74	78	77					5																	145894800		2203	4300	6503	145874993	SO:0001583	missense	134391			AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.877G>A	5.37:g.145894800C>T	ENSP00000308733:p.Val293Ile		145874993	Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483687	0.44147	.	.	ENSG00000173250	ENST00000311104	T	0.72282	-0.64	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.142484	0.48767	D	0.000167	T	0.58495	0.2126	L	0.29908	0.895	0.38507	D	0.948385	B	0.32283	0.362	B	0.35278	0.199	T	0.55988	-0.8053	10	0.12430	T	0.62	.	12.9056	0.58149	0.0:0.9255:0.0:0.0745	.	293	Q8TDV0	GP151_HUMAN	I	293	ENSP00000308733:V293I	ENSP00000308733:V293I	V	-	1	0	GPR151	145874993	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.124000	0.42006	2.941000	0.99782	0.655000	0.94253	GTC		0.498	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		T	145894800	C	T	145894800	3	4	266	1	0	0	0	0	1	0	0	0	6657	565	20	2	386	2	GPR151	5	145894800	Missense_Mutation	SNP	C	TCGA-24-2019-01A-02W-0722-08	4646364	145894800	35020460	11	14951											
C5orf4	10826	broad.mit.edu	37	5	154203153	154203153	+	Splice_Site	SNP	C	C	T			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr5:154203153C>T	ENST00000326080.5	-	6	790		c.e6-1		FAXDC2_ENST00000517938.1_Splice_Site|FAXDC2_ENST00000523997.1_Splice_Site	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2						fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.?(1)									CAGGATCCACCTGCCCAAGGG	0.527																																																1	Unknown(1)	ovary(1)	5											65	68	67					5																	154203153		2011	4147	6158	154183346	SO:0001630	splice_region_variant	10826			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"Fatty acid hydroxylase domain containing"	1334	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 4"	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.367-1G>A	5.37:g.154203153C>T			154183346	B4DIE1|Q9BSX6|Q9H8C7	Splice_Site	SNP	ENST00000326080.5	37	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385564	0.61956	.	.	ENSG00000170271	ENST00000326080;ENST00000517938;ENST00000519501	.	.	.	4.78	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2021	0.54333	0.0:0.9163:0.0:0.0837	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf4	154183346	1.000000	0.71417	0.970000	0.41538	0.845000	0.48019	7.204000	0.77872	1.003000	0.39130	0.561000	0.74099	.		0.527	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385	Intron	T	154203153	C	T	154203153	5	4	266	1	0	0	0	0	0	0	1	0	2298	695	24	2	651	2	C5orf4	5	154203153	Splice_Site	SNP	C	TCGA-24-2019-01A-02W-0722-08	8308353	154203153	26712107	12	14952											
AIMP2	7965	broad.mit.edu	37	7	6057486	6057486	+	Silent	SNP	G	G	T			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr7:6057486G>T	ENST00000223029.3	+	3	503	c.384G>T	c.(382-384)ccG>ccT	p.P128P	AIMP2_ENST00000395236.2_Silent_p.P59P|AIMP2_ENST00000400479.2_Silent_p.P50P|SNORA42_ENST00000384488.1_RNA	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	128	Interaction with PARK2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P128P(1)		large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACGCAAACCCGGCCTCCCCTC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	7											83	54	64					7																	6057486		2203	4300	6503	6024012	SO:0001819	synonymous_variant	7965			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.384G>T	7.37:g.6057486G>T			6024012	Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	ENST00000223029.3	37	CCDS5344.1																																																																																				0.592	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		T	6057486	G	T	6057486	2	4	266	1	0	0	0	0	0	0	0	1	434	1103	39	3		3	AIMP2	7	6057486	Silent	SNP	G	TCGA-24-2019-01A-02W-0722-08		6057486	153081177	13	14953											
CHRNB3	1142	broad.mit.edu	37	8	42587044	42587044	+	Silent	SNP	C	C	T	rs544144336		TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr8:42587044C>T	ENST00000289957.2	+	5	722	c.594C>T	c.(592-594)aaC>aaT	p.N198N		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	198					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.N198N(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TCTTCGATAACGGAGAATGGG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	8											96	95	95					8																	42587044		2203	4300	6503	42706201	SO:0001819	synonymous_variant	1142			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 3 (neuronal)"	118508	"cholinergic receptor, nicotinic, beta polypeptide 3"			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.594C>T	8.37:g.42587044C>T			42706201	Q15827	Silent	SNP	ENST00000289957.2	37	CCDS6134.1																																																																																				0.463	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			T	42587044	C	T	42587044	2	4	266	1	0	0	0	0	0	0	0	1	3392	535	19	1		1	CHRNB3	8	42587044	Silent	SNP	C	TCGA-24-2019-01A-02W-0722-08		42587044	103776978	14	14954											
TAF2	6873	broad.mit.edu	37	8	120809290	120809290	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr8:120809290C>G	ENST00000378164.2	-	8	1329	c.1031G>C	c.(1030-1032)aGg>aCg	p.R344T		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	344					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R344T(1)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGCTAAACACCTTCTAGTCAA	0.363																																																1	Substitution - Missense(1)	ovary(1)	8											98	94	95					8																	120809290		2203	4300	6503	120878471	SO:0001583	missense	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1031G>C	8.37:g.120809290C>G	ENSP00000367406:p.Arg344Thr		120878471	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375350	0.42105	.	.	ENSG00000064313	ENST00000378164	T	0.41065	1.01	5.87	5.87	0.94306	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.054297	0.85682	D	0.000000	T	0.29716	0.0742	N	0.11927	0.2	0.53688	D	0.999973	B	0.14012	0.009	B	0.15484	0.013	T	0.07654	-1.0761	10	0.20519	T	0.43	-0.8406	20.5827	0.99408	0.0:1.0:0.0:0.0	.	344	Q6P1X5	TAF2_HUMAN	T	344	ENSP00000367406:R344T	ENSP00000367406:R344T	R	-	2	0	TAF2	120878471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.978000	0.70501	2.941000	0.99782	0.655000	0.94253	AGG		0.363	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		G	120809290	C	G	120809290	3	3	266	1	0	0	0	0	1	0	0	0	15524	681	24	3	2644	3	TAF2	8	120809290	Missense_Mutation	SNP	C	TCGA-24-2019-01A-02W-0722-08	78222246	120809290	25554732	15	14955											
DNMBP	23268	broad.mit.edu	37	10	101731833	101731833	+	Missense_Mutation	SNP	C	C	T	rs373271192	byFrequency	TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr10:101731833C>T	ENST00000324109.4	-	2	140	c.49G>A	c.(49-51)Gta>Ata	p.V17I	DNMBP_ENST00000342239.3_Missense_Mutation_p.V17I	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	17	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V17I(2)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTCTGATACGCTAGGGCAG	0.418													c|||	4	0.000798722	0	0	5008	,	,		15722	0		0	False		,,,				2504	0.0041															2	Substitution - Missense(2)	ovary(1)|lung(1)	10							ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	127	128	128		49	4.9	0.2	10		128	2,8598	2.2+/-6.3	0,2,4298	no	missense	DNMBP	NM_015221.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	17/1578	101731833	3,13003	2203	4300	6503	101721823	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.49G>A	10.37:g.101731833C>T	ENSP00000315659:p.Val17Ile		101721823	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913694	0.92178	2.27E-4	2.33E-4	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.47869	0.83;0.83	4.93	4.93	0.64822	Src homology-3 domain (4);	0.000000	0.42682	D	0.000664	T	0.49932	0.1586	N	0.05351	-0.065	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.57195	-0.7853	10	0.38643	T	0.18	-13.6492	18.3335	0.90279	0.0:1.0:0.0:0.0	.	17	Q6XZF7	DNMBP_HUMAN	I	17	ENSP00000344914:V17I;ENSP00000315659:V17I	ENSP00000315659:V17I	V	-	1	0	DNMBP	101721823	1.000000	0.71417	0.250000	0.24296	0.886000	0.51366	7.539000	0.82063	2.571000	0.86741	0.555000	0.69702	GTA		0.418	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		T	101731833	C	T	101731833	3	4	266	1	0	0	0	0	1	0	0	0	4674	536	19	1	4748	1	DNMBP	10	101731833	Missense_Mutation	SNP	C	TCGA-24-2019-01A-02W-0722-08		101731833	33802914	16	14956											
MRGPRX2	117194	broad.mit.edu	37	11	19077485	19077485	+	Silent	SNP	G	G	A			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr11:19077485G>A	ENST00000329773.2	-	2	552	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	155					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.A155A(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GTAGGGACAGGGCCCAGAGCA	0.577																																					GBM(198;1966 2199 4849 37227 49954)											1	Substitution - coding silent(1)	ovary(1)	11											66	60	62					11																	19077485		2199	4293	6492	19034061	SO:0001819	synonymous_variant	117194				CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.465C>T	11.37:g.19077485G>A			19034061	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	CCDS7847.1																																																																																				0.577	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		A	19077485	G	A	19077485	2	1	266	1	0	0	0	0	0	0	0	1	9767	1219	43	2		2	MRGPRX2	11	19077485	Silent	SNP	G	TCGA-24-2019-01A-02W-0722-08		19077485	115929031	17	14957											
RCOR2	283248	broad.mit.edu	37	11	63681556	63681556	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr11:63681556C>T	ENST00000301459.4	-	8	1148	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	254					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R254Q(2)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						ACGCCGGGTTCGCAAGGGATG	0.637																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	11											105	97	100					11																	63681556		2201	4297	6498	63438132	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.761G>A	11.37:g.63681556C>T	ENSP00000301459:p.Arg254Gln		63438132	Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136161	0.77662	.	.	ENSG00000167771	ENST00000301459	T	0.46451	0.87	4.58	4.58	0.56647	.	0.162858	0.43747	D	0.000524	T	0.60599	0.2281	M	0.76574	2.34	0.51482	D	0.999924	D	0.76494	0.999	P	0.58331	0.837	T	0.66164	-0.5992	10	0.66056	D	0.02	.	16.6689	0.85260	0.0:1.0:0.0:0.0	.	254	Q8IZ40	RCOR2_HUMAN	Q	254	ENSP00000301459:R254Q	ENSP00000301459:R254Q	R	-	2	0	RCOR2	63438132	0.998000	0.40836	0.363000	0.25875	0.076000	0.17211	5.842000	0.69417	2.532000	0.85374	0.561000	0.74099	CGA		0.637	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		T	63681556	C	T	63681556	3	4	266	1	0	0	0	0	1	0	0	0	13186	884	31	1	830	1	RCOR2	11	63681556	Missense_Mutation	SNP	C	TCGA-24-2019-01A-02W-0722-08	44604071	63681556	71324960	18	14958											
ADAMTS8	11095	broad.mit.edu	37	11	130275745	130275745	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr11:130275745A>G	ENST00000257359.6	-	9	3084	c.2378T>C	c.(2377-2379)gTc>gCc	p.V793A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	793	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V822A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTCGCCAGGGACTGTCAGGAG	0.567																																																1	Substitution - Missense(1)	ovary(1)	11											151	159	156					11																	130275745		2026	4182	6208	129780955	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2378T>C	11.37:g.130275745A>G	ENSP00000257359:p.Val793Ala		129780955	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.991009	0.35131	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.51325	0.71	5.34	4.19	0.49359	ADAM-TS Spacer 1 (1);	0.160615	0.56097	D	0.000032	T	0.54013	0.1832	M	0.62209	1.925	0.38130	D	0.938111	P;P	0.46987	0.888;0.786	P;P	0.50440	0.474;0.641	T	0.59397	-0.7462	10	0.54805	T	0.06	.	11.3529	0.49598	0.9278:0.0:0.0722:0.0	.	793;274	Q9UP79;B3KVX9	ATS8_HUMAN;.	A	191;793;822	ENSP00000257359:V793A	ENSP00000257359:V793A	V	-	2	0	ADAMTS8	129780955	0.561000	0.26578	0.295000	0.24960	0.090000	0.18270	4.802000	0.62539	0.841000	0.35020	0.377000	0.23210	GTC		0.567	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		G	130275745	A	G	130275745	3	3	266	1	0	0	0	0	1	0	0	0	272	275	10	4	295	4	ADAMTS8	11	130275745	Missense_Mutation	SNP	A	TCGA-24-2019-01A-02W-0722-08	66594189	130275745	4730771	19	14959											
ATP2A2	488	broad.mit.edu	37	12	110783104	110783104	+	Silent	SNP	T	T	C			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr12:110783104T>C	ENST00000539276.2	+	18	2767	c.2658T>C	c.(2656-2658)gaT>gaC	p.D886D	ATP2A2_ENST00000395494.2_Silent_p.D859D|ATP2A2_ENST00000308664.6_Silent_p.D886D			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	886					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.D886D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AAGGCGTGGATTGTGCAATCT	0.443																																																1	Substitution - coding silent(1)	ovary(1)	12											193	175	181					12																	110783104		2203	4300	6503	109267487	SO:0001819	synonymous_variant	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2658T>C	12.37:g.110783104T>C			109267487	A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	CCDS9144.1																																																																																				0.443	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		C	110783104	T	C	110783104	2	2	266	1	0	0	0	0	0	0	0	1	1137	1490	52	4		4	ATP2A2	12	110783104	Silent	SNP	T	TCGA-24-2019-01A-02W-0722-08		110783104	23068791	20	14960											
ANKRD11	29123	broad.mit.edu	37	16	89347030	89347030	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr16:89347030G>A	ENST00000301030.4	-	9	6380	c.5920C>T	c.(5920-5922)Cct>Tct	p.P1974S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1974S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1974	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1974S(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAGCCCACAGGCCAGCTCACA	0.677																																																1	Substitution - Missense(1)	ovary(1)	16											30	33	32					16																	89347030		2164	4218	6382	87874531	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5920C>T	16.37:g.89347030G>A	ENSP00000301030:p.Pro1974Ser		87874531	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296705	0.23650	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.34667	1.35;1.35	5.29	3.11	0.35812	.	0.347098	0.24363	N	0.039169	T	0.20088	0.0483	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.10109	-1.0644	10	0.25751	T	0.34	.	2.2547	0.04052	0.2118:0.1351:0.4965:0.1566	.	1974	Q6UB99	ANR11_HUMAN	S	1974	ENSP00000301030:P1974S;ENSP00000367581:P1974S	ENSP00000301030:P1974S	P	-	1	0	ANKRD11	87874531	1.000000	0.71417	0.995000	0.50966	0.076000	0.17211	3.060000	0.49955	1.229000	0.43630	0.450000	0.29827	CCT		0.677	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89347030	G	A	89347030	3	1	266	1	0	0	0	0	1	0	0	0	639	1203	42	2	2091	2	ANKRD11	16	89347030	Missense_Mutation	SNP	G	TCGA-24-2019-01A-02W-0722-08		89347030	1007723	21	14961											
ATP2A3	489	broad.mit.edu	37	17	3831596	3831596	+	Silent	SNP	C	C	T			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr17:3831596C>T	ENST00000352011.3	-	21	3060	c.3006G>A	c.(3004-3006)agG>agA	p.R1002R	ATP2A3_ENST00000397041.3_Intron|ATP2A3_ENST00000397043.3_Intron|ATP2A3_ENST00000309890.7_Silent_p.R1002R|ATP2A3_ENST00000397039.1_Intron|ATP2A3_ENST00000359983.3_Silent_p.R1002R|ATP2A3_ENST00000397035.3_Silent_p.R1002R			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	1002					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R1002R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCGAGACTGTCCTGAGAAGGC	0.622																																					GBM(32;29 774 15719 37967)											1	Substitution - coding silent(1)	ovary(1)	17											38	31	33					17																	3831596		2202	4300	6502	3778345	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.3006G>A	17.37:g.3831596C>T			3778345	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																				0.622	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		T	3831596	C	T	3831596	2	4	266	1	0	0	0	0	0	0	0	1	1138	854	30	2		2	ATP2A3	17	3831596	Silent	SNP	C	TCGA-24-2019-01A-02W-0722-08		3831596	77363614	22	14962											
TP53	7157	broad.mit.edu	37	17	7577586	7577586	+	Missense_Mutation	SNP	A	A	T	rs587781589		TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr17:7577586A>T	ENST00000269305.4	-	7	884	c.695T>A	c.(694-696)aTc>aAc	p.I232N	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.I232N|TP53_ENST00000413465.2_Missense_Mutation_p.I232N|TP53_ENST00000359597.4_Missense_Mutation_p.I232N|TP53_ENST00000445888.2_Missense_Mutation_p.I232N|TP53_ENST00000420246.2_Missense_Mutation_p.I232N	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	232	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(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)	GTTGTAGTGGATGGTGGTACA	0.552		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"	46	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(5)|Insertion - In frame(4)|Insertion - Frameshift(1)	biliary_tract(5)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|endometrium(4)|breast(4)|NS(4)|bone(4)|lung(3)|oesophagus(3)|liver(3)|stomach(2)|central_nervous_system(2)|ovary(2)|thymus(1)	17											113	90	98					17																	7577586		2203	4300	6503	7518311	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.695T>A	17.37:g.7577586A>T	ENSP00000269305:p.Ile232Asn		7518311	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	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964883	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99811	-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.174276	0.51477	D	0.000096	D	0.99576	0.9847	L	0.60455	1.87	0.54753	D	0.999987	D;D;D;D;D;D	0.71674	0.988;0.967;0.99;0.99;0.99;0.998	D;P;D;D;D;D	0.76575	0.979;0.816;0.954;0.988;0.984;0.94	D	0.97647	1.0152	10	0.87932	D	0	-25.5076	12.3101	0.54924	1.0:0.0:0.0:0.0	.	232;232;139;232;232;232	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	N	232;232;232;232;232;232;221;139;100;139	ENSP00000410739:I232N;ENSP00000352610:I232N;ENSP00000269305:I232N;ENSP00000398846:I232N;ENSP00000391127:I232N;ENSP00000391478:I232N;ENSP00000425104:I100N;ENSP00000423862:I139N	ENSP00000269305:I232N	I	-	2	0	TP53	7518311	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.061000	0.93913	2.074000	0.62210	0.379000	0.24179	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577586	A	T	7577586	3	4	266	1	0	0	0	0	1	0	0	0	16381	333	12	5	595	5	TP53	17	7577586	Missense_Mutation	SNP	A	TCGA-24-2019-01A-02W-0722-08	3745990	7577586	73617624	23	14963											
DNAH2	146754	broad.mit.edu	37	17	7681663	7681663	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr17:7681663G>A	ENST00000572933.1	+	35	6877	c.5417G>A	c.(5416-5418)gGc>gAc	p.G1806D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G1806D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1806	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G1806D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGCCCTGCAGGCACAGGCAAG	0.577																																																1	Substitution - Missense(1)	ovary(1)	17											67	63	64					17																	7681663		2203	4300	6503	7622388	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5417G>A	17.37:g.7681663G>A	ENSP00000458355:p.Gly1806Asp		7622388	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869958	0.91587	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.90620	-2.7	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97962	1.0338	10	0.87932	D	0	.	18.419	0.90582	0.0:0.0:1.0:0.0	.	1806	Q9P225	DYH2_HUMAN	D	1806	ENSP00000373825:G1806D	ENSP00000353818:G1806D	G	+	2	0	DNAH2	7622388	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	9.474000	0.97718	2.890000	0.99128	0.650000	0.86243	GGC		0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7681663	G	A	7681663	3	1	266	1	0	0	0	0	1	0	0	0	4602	1203	42	2	5551	2	DNAH2	17	7681663	Missense_Mutation	SNP	G	TCGA-24-2019-01A-02W-0722-08	104077	7681663	73513547	24	14964											
CDH2	1000	broad.mit.edu	37	18	25585846	25585846	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr18:25585846A>T	ENST00000269141.3	-	6	1237	c.814T>A	c.(814-816)Tgg>Agg	p.W272R	CDH2_ENST00000399380.3_Missense_Mutation_p.W241R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	272	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.W272R(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCCCATTCCAAACCTGGTGT	0.388																																																1	Substitution - Missense(1)	ovary(1)	18											143	136	138					18																	25585846		2203	4300	6503	23839844	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.814T>A	18.37:g.25585846A>T	ENSP00000269141:p.Trp272Arg		23839844	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575134	0.65878	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.60171	0.21;0.21	5.54	5.54	0.83059	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	N	0.14661	0.345	0.80722	D	1	B;P	0.35923	0.068;0.528	B;B	0.28553	0.051;0.091	T	0.48603	-0.9021	10	0.87932	D	0	.	15.9599	0.79923	1.0:0.0:0.0:0.0	.	241;272	A8MWK3;P19022	.;CADH2_HUMAN	R	272;241	ENSP00000269141:W272R;ENSP00000382312:W241R	ENSP00000269141:W272R	W	-	1	0	CDH2	23839844	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.905000	0.92613	2.227000	0.72691	0.533000	0.62120	TGG		0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		T	25585846	A	T	25585846	3	4	266	1	0	0	0	0	1	0	0	0	3105	130	5	5	1950	5	CDH2	18	25585846	Missense_Mutation	SNP	A	TCGA-24-2019-01A-02W-0722-08		25585846	52491402	25	14965											
DSG2	1829	broad.mit.edu	37	18	29121187	29121187	+	Silent	SNP	C	C	T	rs201654341	byFrequency	TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chr18:29121187C>T	ENST00000261590.8	+	13	2120	c.1911C>T	c.(1909-1911)tgC>tgT	p.C637C	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	637					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C637C(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTGCCATTGCGGAAAGGGCG	0.428													C|||	23	0.00459265	0	0	5008	,	,		21181	0.001		0	False		,,,				2504	0.0225															1	Substitution - coding silent(1)	ovary(1)	18											127	110	116					18																	29121187		1912	4131	6043	27375185	SO:0001819	synonymous_variant	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1911C>T	18.37:g.29121187C>T			27375185	Q4KKU6	Silent	SNP	ENST00000261590.8	37	CCDS42423.1																																																																																				0.428	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		T	29121187	C	T	29121187	2	4	266	1	0	0	0	0	0	0	0	1	4777	776	27	1		1	DSG2	18	29121187	Silent	SNP	C	TCGA-24-2019-01A-02W-0722-08	3535341	29121187	48956061	26	14966											
GPR143	4935	broad.mit.edu	37	X	9711619	9711619	+	Silent	SNP	C	C	A			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chrX:9711619C>A	ENST00000467482.1	-	6	899	c.753G>T	c.(751-753)ctG>ctT	p.L251L	GPR143_ENST00000380929.2_Silent_p.L271L			P51810	GP143_HUMAN	G protein-coupled receptor 143	251					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)	p.L271L(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TAATTAAAACCAGCATGATTT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	X											126	111	116					X																	9711619		2203	4299	6502	9671619	SO:0001819	synonymous_variant	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.753G>T	X.37:g.9711619C>A			9671619	Q6NTI7	Silent	SNP	ENST00000467482.1	37	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	C	1.776	-0.483132	0.04383	.	.	ENSG00000101850	ENST00000447366	.	.	.	5.15	3.37	0.38596	.	.	.	.	.	T	0.59473	0.2196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52939	-0.8508	4	.	.	.	-3.274	9.7819	0.40653	0.0:0.8238:0.0:0.1762	.	.	.	.	C	187	.	.	G	-	1	0	GPR143	9671619	1.000000	0.71417	0.997000	0.53966	0.294000	0.27393	2.923000	0.48868	0.398000	0.25338	0.513000	0.50165	GGT		0.413	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		A	9711619	C	A	9711619	2	1	266	1	0	0	0	0	0	0	0	1	6651	581	21	3		3	GPR143	23	9711619	Silent	SNP	C	TCGA-24-2019-01A-02W-0722-08		9711619	145558941	27	14967											
BEND2	139105	broad.mit.edu	37	X	18221738	18221738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chrX:18221738G>A	ENST00000380033.4	-	5	922	c.790C>T	c.(790-792)Cga>Tga	p.R264*	BEND2_ENST00000380030.3_Nonsense_Mutation_p.R264*	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	264								p.R264*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GATTCTCTTCGTGACAGAACT	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	X											146	125	132					X																	18221738		2203	4300	6503	18131659	SO:0001587	stop_gained	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.790C>T	X.37:g.18221738G>A	ENSP00000369372:p.Arg264*		18131659	E9PFY2|Q4V9S2|Q5JXE5	Nonsense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047836	0.75846	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	.	.	.	3.93	0.851	0.18989	.	3.166820	0.01285	U	0.009860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	0.829	3.7036	0.08391	0.1276:0.0:0.4394:0.433	.	.	.	.	X	264	.	ENSP00000369369:R264X	R	-	1	2	BEND2	18131659	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.926000	0.28804	0.288000	0.22398	-0.568000	0.04159	CGA		0.463	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		A	18221738	G	A	18221738	4	1	266	1	0	0	0	0	0	1	0	0	1398	1153	40	1	1675	1	BEND2	23	18221738	Nonsense_Mutation	SNP	G	TCGA-24-2019-01A-02W-0722-08	8510119	18221738	137048822	28	14968											
TFE3	7030	broad.mit.edu	37	X	48891027	48891027	+	Silent	SNP	G	G	A	rs201808352		TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chrX:48891027G>A	ENST00000315869.7	-	8	1348	c.1089C>T	c.(1087-1089)aaC>aaT	p.N363N	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	363	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N363N(1)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TGATCCTGTCGTTAATGTTGA	0.552			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								G|||	1	0.000264901	0	0	3775	,	,		14829	0.001		0	False		,,,				2504	0						Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	1	Substitution - coding silent(1)	ovary(1)	X											94	71	79					X																	48891027		2203	4300	6503	48777971	SO:0001819	synonymous_variant	7030			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1089C>T	X.37:g.48891027G>A			48777971	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Silent	SNP	ENST00000315869.7	37	CCDS14315.3																																																																																				0.552	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		A	48891027	G	A	48891027	2	1	266	1	0	0	0	0	0	0	0	1	15800	1136	40	1		1	TFE3	23	48891027	Silent	SNP	G	TCGA-24-2019-01A-02W-0722-08	30669289	48891027	106379533	29	14969											
KIF4A	24137	broad.mit.edu	37	X	69626849	69626849	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chrX:69626849G>A	ENST00000374403.3	+	28	3261	c.3179G>A	c.(3178-3180)gGt>gAt	p.G1060D	KIF4A_ENST00000374388.3_Missense_Mutation_p.G1060D	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1060	Globular.|Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.G1060D(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						gatggtgatggtgatgatgat	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											84	71	75					X																	69626849		2203	4300	6503	69543574	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3179G>A	X.37:g.69626849G>A	ENSP00000363524:p.Gly1060Asp		69543574	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.585123	0.00872	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.68181	-0.28;-0.31	5.06	0.147	0.14838	.	0.821953	0.10570	N	0.659188	T	0.51092	0.1654	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32587	-0.9901	9	.	.	.	.	7.3289	0.26571	0.5463:0.0:0.4537:0.0	.	1060	O95239	KIF4A_HUMAN	D	1060;1060;362	ENSP00000363509:G1060D;ENSP00000363524:G1060D	.	G	+	2	0	KIF4A	69543574	0.797000	0.28877	0.045000	0.18777	0.226000	0.24999	-0.115000	0.10741	-0.014000	0.14175	0.594000	0.82650	GGT		0.443	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		A	69626849	G	A	69626849	3	1	266	1	0	0	0	0	1	0	0	0	8303	1261	44	2	3285	2	KIF4A	23	69626849	Missense_Mutation	SNP	G	TCGA-24-2019-01A-02W-0722-08	20735822	69626849	85643711	30	14970											
ZMAT1	84460	broad.mit.edu	37	X	101152861	101152861	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chrX:101152861G>A	ENST00000372782.3	-	5	532	c.485C>T	c.(484-486)tCa>tTa	p.S162L	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S162L	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	162						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S162L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTGAAATCCTGATGGAGATGC	0.408																																																1	Substitution - Missense(1)	ovary(1)	X											123	94	104					X																	101152861		2203	4300	6503	101039517	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.485C>T	X.37:g.101152861G>A	ENSP00000361868:p.Ser162Leu		101039517	Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	2.356	-0.347745	0.05208	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.15487	2.42;2.42	4.45	2.62	0.31277	.	1.178140	0.06628	N	0.758610	T	0.20047	0.0482	M	0.72353	2.195	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.33650	-0.9860	10	0.30854	T	0.27	1.3418	5.3452	0.16006	0.1153:0.2026:0.6821:0.0	.	162	Q5H9K5	ZMAT1_HUMAN	L	162	ENSP00000361868:S162L;ENSP00000437529:S162L	ENSP00000361868:S162L	S	-	2	0	ZMAT1	101039517	0.939000	0.31865	0.007000	0.13788	0.210000	0.24377	1.226000	0.32563	0.444000	0.26612	0.590000	0.80494	TCA		0.408	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			A	101152861	G	A	101152861	3	1	266	1	0	0	0	0	1	0	0	0	17691	1294	45	2	1443	2	ZMAT1	23	101152861	Missense_Mutation	SNP	G	TCGA-24-2019-01A-02W-0722-08	31526012	101152861	54117699	31	14971											
ZIC3	7547	broad.mit.edu	37	X	136649869	136649869	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2019-01A-02W-0722-08	TCGA-24-2019-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	857459f1-444c-4205-ae00-449ff7a263c6	3689ea37-ad0e-4647-acb3-690f98b9d104	g.chrX:136649869C>G	ENST00000287538.5	+	1	1569	c.1019C>G	c.(1018-1020)gCc>gGc	p.A340G	ZIC3_ENST00000370606.3_Missense_Mutation_p.A340G	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	340	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A340G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AAGATCTTTGCCCGTTCTGAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	X											60	65	63					X																	136649869		2201	4296	6497	136477535	SO:0001583	missense	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1019C>G	X.37:g.136649869C>G	ENSP00000287538:p.Ala340Gly		136477535	B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634252	0.67130	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.41400	1.0;1.0	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	N	0.20807	0.61	0.80722	D	1	P	0.45474	0.859	P	0.56648	0.803	T	0.52049	-0.8627	10	0.87932	D	0	.	16.2665	0.82581	0.0:1.0:0.0:0.0	.	340	O60481	ZIC3_HUMAN	G	340	ENSP00000287538:A340G;ENSP00000359638:A340G	ENSP00000287538:A340G	A	+	2	0	ZIC3	136477535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.646000	0.83445	2.299000	0.77371	0.596000	0.82720	GCC		0.582	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			G	136649869	C	G	136649869	3	3	266	1	0	0	0	0	1	0	0	0	17680	739	26	3	1021	3	ZIC3	23	136649869	Missense_Mutation	SNP	C	TCGA-24-2019-01A-02W-0722-08	35497008	136649869	18620691	32	14972											
HMGCS2	3158	broad.mit.edu	37	1	120306817	120306817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr1:120306817C>T	ENST00000369406.3	-	2	586	c.537G>A	c.(535-537)tgG>tgA	p.W179*	HMGCS2_ENST00000544913.2_Nonsense_Mutation_p.W179*|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	179					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.W179*(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGGACTCCATCCAGTTGGCAG	0.478																																																1	Substitution - Nonsense(1)	ovary(1)	1											105	89	94					1																	120306817		2203	4300	6503	120108340	SO:0001587	stop_gained	3158			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.537G>A	1.37:g.120306817C>T	ENSP00000358414:p.Trp179*		120108340	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Nonsense_Mutation	SNP	ENST00000369406.3	37	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	37	6.554293	0.97658	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	.	.	.	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4887	17.3277	0.87253	0.0:1.0:0.0:0.0	.	.	.	.	X	179	.	ENSP00000358414:W179X	W	-	3	0	HMGCS2	120108340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.332000	0.79203	2.497000	0.84241	0.650000	0.86243	TGG		0.478	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		T	120306817	C	T	120306817	4	4	267	1	0	0	0	0	0	1	0	0	7233	856	30	2	1021	2	HMGCS2	1	120306817	Nonsense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08		120306817	128943804	1	14973											
PDE4DIP	9659	broad.mit.edu	37	1	144879283	144879283	+	Silent	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr1:144879283C>A	ENST00000369354.3	-	27	4356	c.4167G>T	c.(4165-4167)tcG>tcT	p.S1389S	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.S1525S|PDE4DIP_ENST00000369356.4_Silent_p.S1389S|PDE4DIP_ENST00000313382.9_Silent_p.S1345S|PDE4DIP_ENST00000369359.4_Silent_p.S1525S|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1389					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.S1389S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAGACTAGACGAATAATCAC	0.522			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - coding silent(1)	ovary(1)	1											101	111	108					1																	144879283		2203	4300	6503	143590640	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4167G>T	1.37:g.144879283C>A			143590640	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																				0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144879283	C	A	144879283	2	1	267	1	0	0	0	0	0	0	0	1	11643	523	19	3		3	PDE4DIP	1	144879283	Silent	SNP	C	TCGA-24-2024-01A-02W-0722-08	24572466	144879283	104371338	2	14974											
SELE	6401	broad.mit.edu	37	1	169696594	169696594	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr1:169696594G>C	ENST00000333360.7	-	10	1680	c.1541C>G	c.(1540-1542)aCt>aGt	p.T514S	SELE_ENST00000367780.4_Missense_Mutation_p.T389S|SELE_ENST00000367776.1_Missense_Mutation_p.T451S|SELE_ENST00000367774.1_Missense_Mutation_p.T388S|SELE_ENST00000367777.1_Missense_Mutation_p.T451S|SELE_ENST00000367775.1_Missense_Mutation_p.T389S|SELE_ENST00000367781.4_Missense_Mutation_p.T451S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.T388S|SELE_ENST00000367782.4_Missense_Mutation_p.T451S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	514	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.T514S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CTTGCACACAGTGCCAAACAC	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											100	90	93					1																	169696594		2203	4300	6503	167963218	SO:0001583	missense	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1541C>G	1.37:g.169696594G>C	ENSP00000331736:p.Thr514Ser		167963218	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	3.598	-0.082122	0.07141	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.83	5.83	0.93111	Complement control module (2);Sushi/SCR/CCP (3);	0.338426	0.21718	N	0.070169	T	0.19366	0.0465	N	0.02412	-0.56	0.09310	N	1	B	0.32876	0.388	B	0.37422	0.249	T	0.20207	-1.0282	10	0.02654	T	1	-3.9251	17.6276	0.88097	0.0:0.0:1.0:0.0	.	514	P16581	LYAM2_HUMAN	S	451;451;389;388;514;451;389;451;388	ENSP00000356755:T451S;ENSP00000356756:T451S;ENSP00000356754:T389S;ENSP00000356753:T388S;ENSP00000331736:T514S;ENSP00000356751:T451S;ENSP00000356749:T389S;ENSP00000356750:T451S;ENSP00000356748:T388S	ENSP00000331736:T514S	T	-	2	0	SELE	167963218	0.476000	0.25901	0.010000	0.14722	0.823000	0.46562	3.908000	0.56355	2.753000	0.94483	0.650000	0.86243	ACT		0.547	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		C	169696594	G	C	169696594	3	2	267	1	0	0	0	0	1	0	0	0	14016	1029	36	3	307	3	SELE	1	169696594	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	24817311	169696594	79554027	3	14975											
NFASC	23114	broad.mit.edu	37	1	204953226	204953226	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr1:204953226C>T	ENST00000404076.1	+	20	2901	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C	NFASC_ENST00000367172.4_Missense_Mutation_p.R848C|NFASC_ENST00000367171.4_Missense_Mutation_p.R833C|NFASC_ENST00000338515.6_Missense_Mutation_p.R848C|NFASC_ENST00000539706.1_Missense_Mutation_p.R844C|NFASC_ENST00000404907.1_Missense_Mutation_p.R844C|NFASC_ENST00000513543.1_Missense_Mutation_p.R844C|NFASC_ENST00000367170.4_Missense_Mutation_p.R848C|NFASC_ENST00000338586.6_Missense_Mutation_p.R848C|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.R844C|NFASC_ENST00000339876.6_Intron			O94856	NFASC_HUMAN	neurofascin	848					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.R844C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCAGTGGAACCGCGTCTACTC	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											102	90	94					1																	204953226		2203	4300	6503	203219849	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000404076.1:c.2479C>T	1.37:g.204953226C>T	ENSP00000385676:p.Arg827Cys		203219849	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000404076.1	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.217300	0.79352	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000404076;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.41	5.41	0.78517	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000096	T	0.68201	0.2975	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;0.995;1.0;0.998	D;P;P;D;P	0.74023	0.982;0.781;0.905;0.944;0.905	T	0.70353	-0.4895	10	0.72032	D	0.01	.	14.5272	0.67897	0.1472:0.8528:0.0:0.0	.	848;859;844;833;844	O94856;O94856-11;O94856-8;F8W791;O94856-3	NFASC_HUMAN;.;.;.;.	C	848;833;848;848;848;859;844;844;827;844;844;835	ENSP00000356140:R848C;ENSP00000356139:R833C;ENSP00000356138:R848C;ENSP00000342128:R848C;ENSP00000343509:R848C;ENSP00000438614:R844C;ENSP00000353154:R844C;ENSP00000385676:R827C;ENSP00000384061:R844C;ENSP00000425908:R844C;ENSP00000415031:R835C	ENSP00000295776:R859C	R	+	1	0	NFASC	203219849	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.808000	0.47963	2.537000	0.85549	0.563000	0.77884	CGC		0.582	NFASC-012	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000131243.1	NM_001005388		T	204953226	C	T	204953226	3	4	267	1	0	0	0	0	1	0	0	0	10359	652	23	1	2704	1	NFASC	1	204953226	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	35256632	204953226	44297395	4	14976											
PARP1	142	broad.mit.edu	37	1	226566920	226566920	+	Silent	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr1:226566920G>A	ENST00000366794.5	-	12	1811	c.1668C>T	c.(1666-1668)acC>acT	p.T556T		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	556					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T556T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCAGGCCAAGGGTGGCACTGA	0.532								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								1	Substitution - coding silent(1)	ovary(1)	1											202	178	186					1																	226566920		2203	4300	6503	224633543	SO:0001819	synonymous_variant	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1668C>T	1.37:g.226566920G>A			224633543	B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																				0.532	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		A	226566920	G	A	226566920	2	1	267	1	0	0	0	0	0	0	0	1	11454	1219	43	2		2	PARP1	1	226566920	Silent	SNP	G	TCGA-24-2024-01A-02W-0722-08	21613694	226566920	22683701	5	14977											
POLR1A	25885	broad.mit.edu	37	2	86255039	86255039	+	Silent	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr2:86255039G>A	ENST00000263857.6	-	33	5409	c.5031C>T	c.(5029-5031)agC>agT	p.S1677S	POLR1A_ENST00000409681.1_Silent_p.S1616S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1677					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.S1677S(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAAACTGGAAGCTGGTTTCAA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	2											78	85	83					2																	86255039		1996	4171	6167	86108550	SO:0001819	synonymous_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.5031C>T	2.37:g.86255039G>A			86108550	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	CCDS42706.1																																																																																				0.547	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		A	86255039	G	A	86255039	2	1	267	1	0	0	0	0	0	0	0	1	12209	962	34	2		2	POLR1A	2	86255039	Silent	SNP	G	TCGA-24-2024-01A-02W-0722-08		86255039	156944334	6	14978											
DPP4	1803	broad.mit.edu	37	2	162881409	162881409	+	Missense_Mutation	SNP	T	T	C	rs375183248		TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr2:162881409T>C	ENST00000360534.3	-	11	1488	c.928A>G	c.(928-930)Aga>Gga	p.R310G		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	310					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R310G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AAAGAAATTCTTTCTTGTGTT	0.438																																																1	Substitution - Missense(1)	ovary(1)	2						T	GLY/ARG	0,4406		0,0,2203	147	134	138		928	3.1	0.8	2		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	DPP4	NM_001935.3	125	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	310/767	162881409	1,13005	2203	4300	6503	162589655	SO:0001583	missense	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.928A>G	2.37:g.162881409T>C	ENSP00000353731:p.Arg310Gly		162589655	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.798044	0.70567	0.0	1.16E-4	ENSG00000197635	ENST00000360534	D	0.96232	-3.95	5.47	3.06	0.35304	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.199005	0.50627	D	0.000105	D	0.97445	0.9164	M	0.86740	2.835	0.49389	D	0.999786	D	0.59767	0.986	D	0.63703	0.917	D	0.96618	0.9457	10	0.87932	D	0	-29.0473	6.6409	0.22909	0.0:0.0783:0.1557:0.7661	.	310	P27487	DPP4_HUMAN	G	310	ENSP00000353731:R310G	ENSP00000353731:R310G	R	-	1	2	DPP4	162589655	1.000000	0.71417	0.845000	0.33349	0.969000	0.65631	1.568000	0.36418	0.873000	0.35799	0.533000	0.62120	AGA		0.438	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			C	162881409	T	C	162881409	3	2	267	1	0	0	0	0	1	0	0	0	4729	1617	56	4	1436	4	DPP4	2	162881409	Missense_Mutation	SNP	T	TCGA-24-2024-01A-02W-0722-08	76626370	162881409	80317964	7	14979											
XIRP2	129446	broad.mit.edu	37	2	168101375	168101375	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr2:168101375A>T	ENST00000409195.1	+	9	3562	c.3473A>T	c.(3472-3474)cAa>cTa	p.Q1158L	XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1158L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q936L|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	983					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q1158L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGGAGATCCAAGGTGGGGAT	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											86	77	80					2																	168101375		1860	4104	5964	167809621	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3473A>T	2.37:g.168101375A>T	ENSP00000386840:p.Gln1158Leu		167809621	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614522	0.46631	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03386	3.95;3.95;3.95	5.91	4.73	0.59995	.	0.055308	0.64402	D	0.000001	T	0.06962	0.0177	L	0.50333	1.59	0.51482	D	0.99992	P;P;P	0.45474	0.779;0.859;0.859	B;P;P	0.45712	0.296;0.491;0.491	T	0.13415	-1.0510	10	0.59425	D	0.04	-5.0963	12.2267	0.54463	0.8574:0.1426:0.0:0.0	.	983;983;936	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	1158;1158;936	ENSP00000386840:Q1158L;ENSP00000295237:Q1158L;ENSP00000387255:Q936L	ENSP00000295237:Q1158L	Q	+	2	0	XIRP2	167809621	0.956000	0.32656	0.997000	0.53966	0.987000	0.75469	4.083000	0.57643	1.034000	0.39945	0.533000	0.62120	CAA		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168101375	A	T	168101375	3	4	267	1	0	0	0	0	1	0	0	0	17430	130	5	5	3503	5	XIRP2	2	168101375	Missense_Mutation	SNP	A	TCGA-24-2024-01A-02W-0722-08	5219966	168101375	75097998	8	14980											
MYO3B	140469	broad.mit.edu	37	2	171356174	171356174	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr2:171356174C>G	ENST00000408978.4	+	27	3288	c.3145C>G	c.(3145-3147)Cat>Gat	p.H1049D	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.H1049D|MYO3B_ENST00000334231.6_Missense_Mutation_p.H1058D	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1049	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.H1049D(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAAATATTACCATGTTGAGCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											82	77	78					2																	171356174		1871	4109	5980	171064420	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3145C>G	2.37:g.171356174C>G	ENSP00000386213:p.His1049Asp		171064420	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570090	0.86542	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.71698	-0.59;1.57;-0.59;1.57	5.78	5.78	0.91487	Myosin head, motor domain (1);	0.044994	0.85682	D	0.000000	D	0.85388	0.5685	M	0.79475	2.455	0.58432	D	0.999999	D;P;D	0.89917	1.0;0.926;1.0	D;P;D	0.97110	1.0;0.882;0.999	D	0.85552	0.1222	10	0.59425	D	0.04	.	20.0278	0.97529	0.0:1.0:0.0:0.0	.	1049;1049;1049	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	D	1049;1049;1048;1058;1058	ENSP00000386497:H1049D;ENSP00000386213:H1049D;ENSP00000446237:H1058D;ENSP00000335100:H1058D	ENSP00000314213:H1048D	H	+	1	0	MYO3B	171064420	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.438000	0.80431	2.732000	0.93576	0.655000	0.94253	CAT		0.398	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			G	171356174	C	G	171356174	3	3	267	1	0	0	0	0	1	0	0	0	10077	594	21	3	3251	3	MYO3B	2	171356174	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	3254799	171356174	71843199	9	14981											
COL3A1	1281	broad.mit.edu	37	2	189875582	189875582	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr2:189875582A>G	ENST00000304636.3	+	50	4390	c.4220A>G	c.(4219-4221)aAa>aGa	p.K1407R	COL3A1_ENST00000317840.5_Missense_Mutation_p.K1104R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1407	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.K1407R(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGAAATAGCAAATTCACCTAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											100	92	95					2																	189875582		2203	4300	6503	189583827	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4220A>G	2.37:g.189875582A>G	ENSP00000304408:p.Lys1407Arg		189583827	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	A	7.077	0.569452	0.13560	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.73575	-0.76;-0.76	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (4);	0.000000	0.53938	D	0.000041	T	0.51381	0.1671	N	0.02916	-0.46	0.26243	N	0.978846	B	0.18863	0.031	B	0.27380	0.079	T	0.22977	-1.0201	10	0.07644	T	0.81	.	15.6613	0.77190	1.0:0.0:0.0:0.0	.	1407	P02461	CO3A1_HUMAN	R	1407;1104	ENSP00000304408:K1407R;ENSP00000315243:K1104R	ENSP00000304408:K1407R	K	+	2	0	COL3A1	189583827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.309000	0.65774	2.100000	0.63781	0.533000	0.62120	AAA		0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		G	189875582	A	G	189875582	3	3	267	1	0	0	0	0	1	0	0	0	3688	14	1	4	4418	4	COL3A1	2	189875582	Missense_Mutation	SNP	A	TCGA-24-2024-01A-02W-0722-08	18519408	189875582	53323791	10	14982											
TMEM169	92691	broad.mit.edu	37	2	216960853	216960853	+	Missense_Mutation	SNP	G	G	A	rs143856543	byFrequency	TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr2:216960853G>A	ENST00000295658.4	+	2	374	c.167G>A	c.(166-168)cGc>cAc	p.R56H	TMEM169_ENST00000437356.2_Missense_Mutation_p.R56H|TMEM169_ENST00000406027.2_Missense_Mutation_p.R56H|TMEM169_ENST00000454545.1_Missense_Mutation_p.R56H	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	56						integral component of membrane (GO:0016021)		p.R56H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCATCTACCGCTCAGACAAT	0.517													G|||	2	0.000399361	8e-04	0	5008	,	,		19692	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2											86	84	84					2																	216960853		2203	4300	6503	216669098	SO:0001583	missense	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.167G>A	2.37:g.216960853G>A	ENSP00000295658:p.Arg56His		216669098	B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	CCDS2401.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.1	4.488262	0.84854	.	.	ENSG00000163449	ENST00000433112;ENST00000454545;ENST00000437356;ENST00000295658;ENST00000455479;ENST00000406027	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	M	0.61703	1.905	0.58432	D	0.999992	D	0.76494	0.999	D	0.66196	0.942	T	0.78758	-0.2079	9	0.72032	D	0.01	-20.6042	16.6847	0.85302	0.0:0.0:1.0:0.0	.	56	Q96HH4	TM169_HUMAN	H	56	.	ENSP00000295658:R56H	R	+	2	0	TMEM169	216669098	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	8.886000	0.92447	2.407000	0.81776	0.306000	0.20318	CGC		0.517	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		A	216960853	G	A	216960853	3	1	267	1	0	0	0	0	1	0	0	0	16084	1087	38	1	169	1	TMEM169	2	216960853	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	27085271	216960853	26238520	11	14983											
WNT6	7475	broad.mit.edu	37	2	219736293	219736293	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr2:219736293C>A	ENST00000233948.3	+	3	605	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	130					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.L130M(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCGAGCTGCTGCAGTGCGG	0.756																																																1	Substitution - Missense(1)	ovary(1)	2											11	12	12					2																	219736293		1720	3541	5261	219444537	SO:0001583	missense	7475			AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"Wingless-type MMTV integration sites"	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.388C>A	2.37:g.219736293C>A	ENSP00000233948:p.Leu130Met		219444537	Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	c	13.89	2.370967	0.42003	.	.	ENSG00000115596	ENST00000233948	T	0.75704	-0.96	4.61	2.77	0.32553	.	0.172009	0.40818	N	0.001003	T	0.74321	0.3701	L	0.39514	1.22	0.40266	D	0.978233	D	0.61697	0.99	D	0.64410	0.925	T	0.71203	-0.4662	10	0.48119	T	0.1	.	4.2403	0.10645	0.1625:0.5944:0.1572:0.0858	.	130	Q9Y6F9	WNT6_HUMAN	M	130	ENSP00000233948:L130M	ENSP00000233948:L130M	L	+	1	2	WNT6	219444537	0.955000	0.32602	1.000000	0.80357	0.990000	0.78478	0.185000	0.16958	0.376000	0.24707	0.486000	0.48141	CTG		0.756	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		A	219736293	C	A	219736293	3	1	267	1	0	0	0	0	1	0	0	0	17393	796	28	3	398	3	WNT6	2	219736293	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	2775440	219736293	23463080	12	14984											
CUL3	8452	broad.mit.edu	37	2	225400349	225400349	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr2:225400349C>G	ENST00000264414.4	-	3	612	c.274G>C	c.(274-276)Gat>Cat	p.D92H	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.D68H|CUL3_ENST00000344951.4_Missense_Mutation_p.D26H|CUL3_ENST00000409096.1_Missense_Mutation_p.D68H	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	92					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.D92H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTAGTACATCTTCTCGCACC	0.343																																																1	Substitution - Missense(1)	ovary(1)	2											152	132	139					2																	225400349		2203	4298	6501	225108593	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.274G>C	2.37:g.225400349C>G	ENSP00000264414:p.Asp92His		225108593	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.957586|4.957586	0.92726|0.92726	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777|ENST00000436172	T;T;T;T|.	0.32515|.	1.45;1.45;1.45;1.45|.	5.99|5.99	5.99|5.99	0.97316|0.97316	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70185|0.70185	0.3195|0.3195	L|L	0.45470|0.45470	1.425|1.425	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.998;0.998|.	D;D;D|.	0.67900|.	0.922;0.954;0.954|.	T|T	0.63734|0.63734	-0.6570|-0.6570	10|5	0.45353|.	T|.	0.12|.	.|.	20.0728|20.0728	0.97731|0.97731	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	26;70;92|.	Q13618-3;Q53S54;Q13618|.	.;.;CUL3_HUMAN|.	H|T	92;26;68;68|112	ENSP00000264414:D92H;ENSP00000343601:D26H;ENSP00000387200:D68H;ENSP00000386525:D68H|.	ENSP00000264414:D92H|.	D|R	-|-	1|2	0|0	CUL3|CUL3	225108593|225108593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.414000|7.414000	0.80117|0.80117	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.343	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			G	225400349	C	G	225400349	3	3	267	1	0	0	0	0	1	0	0	0	4056	913	32	3	2088	3	CUL3	2	225400349	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	5664056	225400349	17799024	13	14985											
BSN	8927	broad.mit.edu	37	3	49700363	49700363	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr3:49700363G>A	ENST00000296452.4	+	7	10886	c.10772G>A	c.(10771-10773)cGc>cAc	p.R3591H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3591					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.R3591H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGGGATGCCCGCTCTGACCGG	0.612																																																1	Substitution - Missense(1)	ovary(1)	3											61	61	61					3																	49700363		2203	4300	6503	49675367	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10772G>A	3.37:g.49700363G>A	ENSP00000296452:p.Arg3591His		49675367	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151041	0.38021	.	.	ENSG00000164061	ENST00000296452	T	0.28454	1.61	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.69358	2.11	0.58432	D	0.999999	P	0.52577	0.954	B	0.39706	0.307	T	0.43766	-0.9371	10	0.87932	D	0	-9.1184	18.932	0.92570	0.0:0.0:1.0:0.0	.	3591	Q9UPA5	BSN_HUMAN	H	3591	ENSP00000296452:R3591H	ENSP00000296452:R3591H	R	+	2	0	BSN	49675367	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.853000	0.86934	2.573000	0.86826	0.655000	0.94253	CGC		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49700363	G	A	49700363	3	1	267	1	0	0	0	0	1	0	0	0	1530	1087	38	1	10798	1	BSN	3	49700363	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08		49700363	148322067	14	14986											
ITIH1	3697	broad.mit.edu	37	3	52812454	52812454	+	Silent	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr3:52812454C>A	ENST00000273283.2	+	3	261	c.237C>A	c.(235-237)gcC>gcA	p.A79A	ITIH1_ENST00000542827.1_Silent_p.A79A|ITIH1_ENST00000537050.1_5'Flank|ITIH1_ENST00000540715.1_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	79	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A79A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCAACACTGCCAATGAAGCCA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	3											151	143	146					3																	52812454		2203	4300	6503	52787494	SO:0001819	synonymous_variant	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.237C>A	3.37:g.52812454C>A			52787494	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	CCDS2864.1																																																																																				0.547	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		A	52812454	C	A	52812454	2	1	267	1	0	0	0	0	0	0	0	1	7903	581	21	3		3	ITIH1	3	52812454	Silent	SNP	C	TCGA-24-2024-01A-02W-0722-08	3112091	52812454	145209976	15	14987											
ZNF654	55279	broad.mit.edu	37	3	88188630	88188630	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr3:88188630C>T	ENST00000309495.5	+	1	377	c.170C>T	c.(169-171)gCt>gTt	p.A57V	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A18V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAGCAAATTGCTGCAGCTCAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	3											87	87	87					3																	88188630		1894	4109	6003	88271320	SO:0001583	missense	55279			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.170C>T	3.37:g.88188630C>T	ENSP00000312141:p.Ala57Val		88271320	Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981286	0.53827	.	.	ENSG00000175105	ENST00000309495	T	0.11063	2.81	5.42	5.42	0.78866	.	1.116960	0.06558	N	0.746224	T	0.15609	0.0376	L	0.29908	0.895	0.40517	D	0.980791	P	0.48589	0.912	P	0.45310	0.476	T	0.33394	-0.9870	10	0.32370	T	0.25	.	18.2814	0.90099	0.0:1.0:0.0:0.0	.	57	Q8IZM8	ZN654_HUMAN	V	57	ENSP00000312141:A57V	ENSP00000312141:A57V	A	+	2	0	ZNF654	88271320	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.704000	0.74639	2.565000	0.86533	0.549000	0.68633	GCT		0.358	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		T	88188630	C	T	88188630	3	4	267	1	0	0	0	0	1	0	0	0	18067	797	28	2	172	2	ZNF654	3	88188630	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	35376176	88188630	109833800	16	14988											
KIAA1524	57650	broad.mit.edu	37	3	108282018	108282018	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr3:108282018C>G	ENST00000295746.8	-	13	1665	c.1589G>C	c.(1588-1590)aGa>aCa	p.R530T	KIAA1524_ENST00000491772.1_Missense_Mutation_p.R371T|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	530					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R530T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAATAATATTCTCAGTCCAGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	3											154	159	158					3																	108282018		2203	4300	6503	109764708	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1589G>C	3.37:g.108282018C>G	ENSP00000295746:p.Arg530Thr		109764708	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016313	0.35606	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.34275	1.37;1.37	5.3	4.43	0.53597	.	0.494865	0.23127	N	0.051633	T	0.31295	0.0792	L	0.53249	1.67	0.37420	D	0.913588	P	0.35684	0.515	B	0.29267	0.1	T	0.32824	-0.9892	10	0.49607	T	0.09	-4.6479	11.7182	0.51666	0.0:0.8541:0.0:0.1459	.	530	Q8TCG1	CIP2A_HUMAN	T	371;530	ENSP00000419487:R371T;ENSP00000295746:R530T	ENSP00000295746:R530T	R	-	2	0	KIAA1524	109764708	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.617000	0.46385	1.237000	0.43756	0.563000	0.77884	AGA		0.393	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		G	108282018	C	G	108282018	3	3	267	1	0	0	0	0	1	0	0	0	8239	913	32	3	1164	3	KIAA1524	3	108282018	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	20093388	108282018	89740412	17	14989											
GOLGB1	2804	broad.mit.edu	37	3	121410361	121410361	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr3:121410361G>A	ENST00000340645.5	-	14	7960	c.7835C>T	c.(7834-7836)tCc>tTc	p.S2612F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S2617F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2612					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.S2612F(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTTAGCTGGGATATAGATAC	0.388																																																1	Substitution - Missense(1)	ovary(1)	3											83	85	84					3																	121410361		2203	4300	6503	122893051	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7835C>T	3.37:g.121410361G>A	ENSP00000341848:p.Ser2612Phe		122893051	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	5.232	0.228349	0.09916	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16597	2.33;2.33	4.88	4.88	0.63580	.	0.218895	0.32640	N	0.005827	T	0.33904	0.0879	L	0.60455	1.87	0.26572	N	0.973545	P;P;P	0.51791	0.948;0.948;0.925	P;P;P	0.57720	0.826;0.826;0.568	T	0.06679	-1.0813	10	0.66056	D	0.02	.	15.5762	0.76387	0.0:0.0:1.0:0.0	.	2617;2617;2612	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	F	2612;2617	ENSP00000341848:S2612F;ENSP00000377275:S2617F	ENSP00000341848:S2612F	S	-	2	0	GOLGB1	122893051	0.903000	0.30736	0.339000	0.25562	0.181000	0.23173	5.158000	0.64917	2.520000	0.84964	0.655000	0.94253	TCC		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121410361	G	A	121410361	3	1	267	1	0	0	0	0	1	0	0	0	6565	1174	41	2	1980	2	GOLGB1	3	121410361	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	13128343	121410361	76612069	18	14990											
FETUB	26998	broad.mit.edu	37	3	186358839	186358839	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr3:186358839C>G	ENST00000265029.3	+	2	347	c.246C>G	c.(244-246)ttC>ttG	p.F82L	FETUB_ENST00000382134.3_Intron|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.F82L|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382136.3_Intron|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000488561.1_Intron	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	82	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.F82L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GATCTCTGTTCTATCTTACAC	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											94	86	88					3																	186358839		2203	4300	6503	187841533	SO:0001583	missense	26998			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.246C>G	3.37:g.186358839C>G	ENSP00000265029:p.Phe82Leu		187841533	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243793	0.79912	.	.	ENSG00000090512	ENST00000450521;ENST00000265029	T;T	0.15603	2.41;2.41	5.64	4.77	0.60923	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.296855	0.29838	N	0.011073	T	0.33962	0.0881	M	0.68952	2.095	0.80722	D	1	D	0.67145	0.996	P	0.60117	0.869	T	0.08472	-1.0720	10	0.72032	D	0.01	-19.3447	10.6138	0.45439	0.0:0.912:0.0:0.088	.	82	Q9UGM5	FETUB_HUMAN	L	82	ENSP00000404288:F82L;ENSP00000265029:F82L	ENSP00000265029:F82L	F	+	3	2	FETUB	187841533	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	0.984000	0.29565	1.537000	0.49254	0.655000	0.94253	TTC		0.448	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		G	186358839	C	G	186358839	3	3	267	1	0	0	0	0	1	0	0	0	5821	912	32	3	252	3	FETUB	3	186358839	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	64948478	186358839	11663591	19	14991											
MAEA	10296	broad.mit.edu	37	4	1305928	1305928	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr4:1305928G>C	ENST00000303400.4	+	2	294	c.231G>C	c.(229-231)aaG>aaC	p.K77N	MAEA_ENST00000452175.2_Missense_Mutation_p.K66N|MAEA_ENST00000510794.1_Missense_Mutation_p.K76N|MAEA_ENST00000505839.1_Missense_Mutation_p.K29N|MAEA_ENST00000264750.6_Missense_Mutation_p.K77N|MAEA_ENST00000505177.2_Missense_Mutation_p.K77N|MAEA_ENST00000514708.1_Missense_Mutation_p.K77N	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	77	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)	p.K77N(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	TGGTGGAGAAGCTCAGCGTCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	4											38	40	40					4																	1305928		2203	4300	6503	1295928	SO:0001583	missense	10296			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.231G>C	4.37:g.1305928G>C	ENSP00000302830:p.Lys77Asn		1295928	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896969	0.72639	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794;ENST00000512842;ENST00000505839	T;T;T;T;T;T;T;T	0.56444	0.72;0.63;0.52;0.49;0.53;0.68;0.46;0.7	5.94	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	M	0.88640	2.97	0.29951	N	0.820206	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999;0.993	D;D;D;D;D;D	0.78314	0.974;0.98;0.991;0.968;0.989;0.943	T	0.72934	-0.4141	10	0.72032	D	0.01	-13.0273	8.894	0.35453	0.3009:0.0:0.6991:0.0	.	76;77;77;77;77;77	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	N	77;77;77;77;77;56;77;66;77;76;29;29	ENSP00000302830:K77N;ENSP00000422215:K77N;ENSP00000421644:K77N;ENSP00000264750:K77N;ENSP00000426903:K77N;ENSP00000411415:K66N;ENSP00000427512:K77N;ENSP00000426807:K76N	ENSP00000264750:K77N	K	+	3	2	MAEA	1295928	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.349000	0.33998	0.788000	0.33755	-0.312000	0.09012	AAG		0.632	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		C	1305928	G	C	1305928	3	2	267	1	0	0	0	0	1	0	0	0	9153	962	34	3	237	3	MAEA	4	1305928	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08		1305928	189848348	20	14992											
PDGFRA	5156	broad.mit.edu	37	4	55138615	55138615	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr4:55138615A>G	ENST00000257290.5	+	9	1623	c.1292A>G	c.(1291-1293)cAg>cGg	p.Q431R	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	431	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Q431R(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ACTGGGGGACAGACGGTGAGG	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - Missense(1)	ovary(1)	4											158	144	148					4																	55138615		2203	4300	6503	54833372	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1292A>G	4.37:g.55138615A>G	ENSP00000257290:p.Gln431Arg		54833372	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710332	0.68730	.	.	ENSG00000134853	ENST00000257290	T	0.77358	-1.09	6.17	6.17	0.99709	.	0.000000	0.30781	U	0.008885	D	0.85353	0.5677	M	0.79258	2.445	0.80722	D	1	D;P	0.55605	0.972;0.749	P;B	0.58721	0.844;0.424	T	0.82577	-0.0388	10	0.15952	T	0.53	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	431;431	P16234-3;P16234	.;PGFRA_HUMAN	R	431	ENSP00000257290:Q431R	ENSP00000257290:Q431R	Q	+	2	0	PDGFRA	54833372	1.000000	0.71417	0.965000	0.40720	0.008000	0.06430	7.670000	0.83925	2.371000	0.80710	0.533000	0.62120	CAG		0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		G	55138615	A	G	55138615	3	3	267	1	0	0	0	0	1	0	0	0	11661	188	7	4	1322	4	PDGFRA	4	55138615	Missense_Mutation	SNP	A	TCGA-24-2024-01A-02W-0722-08	53832687	55138615	136015661	21	14993											
TACR3	6870	broad.mit.edu	37	4	104511133	104511133	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr4:104511133C>G	ENST00000304883.2	-	5	1244	c.1104G>C	c.(1102-1104)aaG>aaC	p.K368N	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	368					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.K368N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GAAATGCTCTCTTGAAGCCAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	4											67	67	67					4																	104511133		2203	4300	6503	104730582	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1104G>C	4.37:g.104511133C>G	ENSP00000303325:p.Lys368Asn		104730582	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847919	0.71603	.	.	ENSG00000169836	ENST00000304883	T	0.42900	0.96	5.81	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.85373	2.75	0.52099	D	0.999948	D	0.76494	0.999	D	0.68765	0.96	T	0.66775	-0.5838	10	0.45353	T	0.12	.	10.0621	0.42282	0.0:0.8489:0.0:0.1511	.	368	P29371	NK3R_HUMAN	N	368	ENSP00000303325:K368N	ENSP00000303325:K368N	K	-	3	2	TACR3	104730582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.143000	0.31553	1.460000	0.47911	0.591000	0.81541	AAG		0.428	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		G	104511133	C	G	104511133	3	3	267	1	0	0	0	0	1	0	0	0	15507	912	32	3	297	3	TACR3	4	104511133	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	49372518	104511133	86643143	22	14994											
MFSD8	256471	broad.mit.edu	37	4	128863278	128863278	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr4:128863278C>T	ENST00000296468.3	-	6	602	c.475G>A	c.(475-477)Gct>Act	p.A159T	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.A114T|MFSD8_ENST00000541133.1_Missense_Mutation_p.A114T	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	159					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.A159T(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AGGGAAGTAGCACCAGCAGTA	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											188	167	174					4																	128863278		2203	4300	6503	129082728	SO:0001583	missense	256471			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.475G>A	4.37:g.128863278C>T	ENSP00000296468:p.Ala159Thr		129082728	B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683278	0.47991	.	.	ENSG00000164073	ENST00000296468;ENST00000513559;ENST00000541133	T;T;T	0.58060	0.36;0.36;0.36	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.74258	2.255	0.80722	D	1	B;D	0.71674	0.412;0.998	B;D	0.63957	0.25;0.92	T	0.66360	-0.5943	10	0.22706	T	0.39	-7.7445	18.1934	0.89813	0.0:1.0:0.0:0.0	.	114;159	B7Z2B2;Q8NHS3	.;MFSD8_HUMAN	T	159;114;114	ENSP00000296468:A159T;ENSP00000425000:A114T;ENSP00000439616:A114T	ENSP00000296468:A159T	A	-	1	0	MFSD8	129082728	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	6.693000	0.74582	2.518000	0.84900	0.563000	0.77884	GCT		0.358	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		T	128863278	C	T	128863278	3	4	267	1	0	0	0	0	1	0	0	0	9538	710	25	2	1113	2	MFSD8	4	128863278	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	24352145	128863278	62290998	23	14995											
TBCA	6902	broad.mit.edu	37	5	76989143	76989143	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr5:76989143G>C	ENST00000380377.4	-	3	297	c.194C>G	c.(193-195)cCa>cGa	p.P65R	TBCA_ENST00000522370.1_Missense_Mutation_p.P41R|TBCA_ENST00000518338.2_Missense_Mutation_p.P88R|TBCA_ENST00000520361.1_Intron|TBCA_ENST00000520039.1_3'UTR|TBCA_ENST00000517679.1_Missense_Mutation_p.P76R|TBCA_ENST00000517881.1_5'UTR|TBCA_ENST00000306388.6_Missense_Mutation_p.P65R	NM_004607.2	NP_004598.1	O75347	TBCA_HUMAN	tubulin folding cofactor A	65					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)	p.P65R(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		CTGGCAATCTGGGATCATCAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											74	71	72					5																	76989143		2203	4300	6503	77024899	SO:0001583	missense	6902			AF038952	CCDS4040.1, CCDS75263.1	5q14.1	2008-02-05	2006-11-21		ENSG00000171530	ENSG00000171530			11579	protein-coding gene	gene with protein product		610058	"tubulin-specific chaperone a"			9653160, 8706133	Standard	XM_005248586		Approved		uc003kfh.1	O75347	OTTHUMG00000102173	ENST00000380377.4:c.194C>G	5.37:g.76989143G>C	ENSP00000369736:p.Pro65Arg		77024899	B4DT30	Missense_Mutation	SNP	ENST00000380377.4	37	CCDS4040.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504376	0.85176	.	.	ENSG00000171530	ENST00000380377;ENST00000517679;ENST00000306388;ENST00000522370	.	.	.	5.46	5.46	0.80206	.	0.050633	0.85682	D	0.000000	D	0.84986	0.5594	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.985;0.996	D	0.86517	0.1813	9	0.62326	D	0.03	-12.7764	19.6694	0.95905	0.0:0.0:1.0:0.0	.	65;65	B4DT30;O75347	.;TBCA_HUMAN	R	65;76;65;41	.	ENSP00000306362:P65R	P	-	2	0	TBCA	77024899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.531000	0.81973	2.719000	0.93026	0.650000	0.86243	CCA		0.403	TBCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220021.3	NM_004607		C	76989143	G	C	76989143	3	2	267	1	0	0	0	0	1	0	0	0	15629	1348	47	3	140	3	TBCA	5	76989143	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08		76989143	103926117	24	14996											
APC	324	broad.mit.edu	37	5	112175577	112175577	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr5:112175577A>G	ENST00000457016.1	+	16	4666	c.4286A>G	c.(4285-4287)cAa>cGa	p.Q1429R	APC_ENST00000257430.4_Missense_Mutation_p.Q1429R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q1429R			P25054	APC_HUMAN	adenomatous polyposis coli	1429	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q1429fs*8(4)|p.Y1376fs*41(1)|p.T1430fs*43(1)|p.?(1)|p.P1424fs*19(1)|p.S1411fs*41(1)|p.K1192fs*3(1)|p.Q1429R(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCCCTGGACAAACCATGCCA	0.473		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	11	Deletion - Frameshift(9)|Substitution - Missense(1)|Unknown(1)	large_intestine(8)|ovary(1)|soft_tissue(1)|skin(1)	5											108	98	101					5																	112175577		2202	4300	6502	112203476	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4286A>G	5.37:g.112175577A>G	ENSP00000413133:p.Gln1429Arg		112203476	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262844	0.80358	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.93488	-3.23;-3.23;-3.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	D	0.95380	0.8472	9	.	.	.	-14.8813	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1431;1429	Q4LE70;P25054	.;APC_HUMAN	R	1429	ENSP00000413133:Q1429R;ENSP00000257430:Q1429R;ENSP00000427089:Q1429R	.	Q	+	2	0	APC	112203476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	CAA		0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112175577	A	G	112175577	3	3	267	1	0	0	0	0	1	0	0	0	763	130	5	4	4344	4	APC	5	112175577	Missense_Mutation	SNP	A	TCGA-24-2024-01A-02W-0722-08	35186434	112175577	68739683	25	14997											
MCC	4163	broad.mit.edu	37	5	112487091	112487091	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr5:112487091T>A	ENST00000302475.4	-	2	649	c.86A>T	c.(85-87)aAg>aTg	p.K29M	MCC_ENST00000515367.2_De_novo_Start_InFrame|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.K219M	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	29					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K29M(1)|p.K219M(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TATATCTCCCTTTAGTGATGC	0.468																																																2	Substitution - Missense(2)	ovary(2)	5											90	81	84					5																	112487091		2202	4300	6502	112514990	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.86A>T	5.37:g.112487091T>A	ENSP00000305617:p.Lys29Met		112514990	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765087	0.49574	.	.	ENSG00000171444	ENST00000302475;ENST00000408903	T;T	0.79749	-1.3;0.89	5.25	4.1	0.47936	.	0.132653	0.52532	D	0.000067	T	0.76314	0.3970	N	0.19112	0.55	0.41867	D	0.990253	P;D;P	0.54964	0.799;0.969;0.799	B;P;B	0.55999	0.397;0.789;0.397	T	0.77405	-0.2600	10	0.72032	D	0.01	-38.5269	8.1987	0.31411	0.0:0.1523:0.0:0.8477	.	29;219;29	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	M	29;219	ENSP00000305617:K29M;ENSP00000386227:K219M	ENSP00000305617:K29M	K	-	2	0	MCC	112514990	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	2.637000	0.46553	1.034000	0.39945	0.459000	0.35465	AAG		0.468	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		A	112487091	T	A	112487091	3	1	267	1	0	0	0	0	1	0	0	0	9373	1609	56	5	2467	5	MCC	5	112487091	Missense_Mutation	SNP	T	TCGA-24-2024-01A-02W-0722-08	311514	112487091	68428169	26	14998											
SLC4A9	83697	broad.mit.edu	37	5	139743706	139743706	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr5:139743706C>G	ENST00000230993.6	+	10	1429	c.1394C>G	c.(1393-1395)cCc>cGc	p.P465R	SLC4A9_ENST00000432095.2_Missense_Mutation_p.P430R|SLC4A9_ENST00000506757.2_Missense_Mutation_p.P441R|SLC4A9_ENST00000506545.1_Missense_Mutation_p.P441R|SLC4A9_ENST00000507527.1_Missense_Mutation_p.P465R	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	465	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.P439R(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCAGCCCCTCACCATT	0.622																																																1	Substitution - Missense(1)	ovary(1)	5											25	28	27					5																	139743706		1921	4124	6045	139723890	SO:0001583	missense	83697			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1394C>G	5.37:g.139743706C>G	ENSP00000230993:p.Pro465Arg		139723890	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286654	0.59867	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.79	4.79	0.61399	Bicarbonate transporter, C-terminal (1);	0.087877	0.48767	D	0.000172	D	0.95990	0.8694	M	0.93978	3.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.994;0.995;0.991;0.991	D	0.96891	0.9653	10	0.87932	D	0	.	18.4108	0.90550	0.0:1.0:0.0:0.0	.	441;465;430;441	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	R	465;441;430;441;465	ENSP00000230993:P465R;ENSP00000424424:P441R;ENSP00000410056:P430R;ENSP00000422855:P441R;ENSP00000427661:P465R	ENSP00000230993:P465R	P	+	2	0	SLC4A9	139723890	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	7.651000	0.83577	2.675000	0.91044	0.462000	0.41574	CCC		0.622	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		G	139743706	C	G	139743706	3	3	267	1	0	0	0	0	1	0	0	0	14663	623	22	3	1360	3	SLC4A9	5	139743706	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	27256615	139743706	41171554	27	14999											
APBB3	10307	broad.mit.edu	37	5	139941196	139941196	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr5:139941196A>T	ENST00000357560.4	-	8	1166	c.723T>A	c.(721-723)agT>agA	p.S241R	APBB3_ENST00000511201.2_Missense_Mutation_p.S239R|APBB3_ENST00000412920.3_Missense_Mutation_p.S239R|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000508496.2_Missense_Mutation_p.S18R|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000358580.5_Missense_Mutation_p.S241R|APBB3_ENST00000354402.5_Missense_Mutation_p.S248R|APBB3_ENST00000356738.2_Missense_Mutation_p.S246R	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	241	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S248R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGTAGGGCACTGGCAATGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											128	122	124					5																	139941196		2203	4300	6503	139921380	SO:0001583	missense	10307			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.723T>A	5.37:g.139941196A>T	ENSP00000350171:p.Ser241Arg		139921380	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966031	0.53507	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920;ENST00000511201	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.99	5.99	0.97316	.	0.325064	0.38272	N	0.001759	T	0.23727	0.0574	L	0.44542	1.39	0.51012	D	0.999902	P;P;P	0.49783	0.88;0.855;0.928	P;B;P	0.47402	0.468;0.359;0.546	T	0.11792	-1.0573	9	.	.	.	-14.8831	3.3031	0.06990	0.6421:0.1537:0.074:0.1302	.	239;239;246	D6RBA1;O95704-2;O95704-3	.;.;.	R	241;246;248;241;18;239;239	ENSP00000351389:S241R;ENSP00000349177:S246R;ENSP00000346378:S248R;ENSP00000350171:S241R;ENSP00000444013:S18R;ENSP00000402591:S239R;ENSP00000424317:S239R	.	S	-	3	2	APBB3	139921380	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.461000	0.21940	2.291000	0.77112	0.533000	0.62120	AGT		0.542	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		T	139941196	A	T	139941196	3	4	267	1	0	0	0	0	1	0	0	0	762	156	6	5	761	5	APBB3	5	139941196	Missense_Mutation	SNP	A	TCGA-24-2024-01A-02W-0722-08	197490	139941196	40974064	28	15000											
PCDHB11	56125	broad.mit.edu	37	5	140579766	140579766	+	Missense_Mutation	SNP	T	T	C	rs553664559		TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr5:140579766T>C	ENST00000354757.3	+	1	419	c.419T>C	c.(418-420)cTa>cCa	p.L140P	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	140	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L140P(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAATGCTCCTAGAAATCCCA	0.413													T|||	1	0.000199681	0	0	5008	,	,		19361	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	5											124	138	133					5																	140579766		2203	4300	6503	140559950	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.419T>C	5.37:g.140579766T>C	ENSP00000346802:p.Leu140Pro		140559950	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873711	0.72180	.	.	ENSG00000197479	ENST00000354757	T	0.21932	1.98	2.7	1.55	0.23275	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.60741	0.2292	H	0.99130	4.44	0.26550	N	0.973934	D	0.89917	1.0	D	0.91635	0.999	T	0.53114	-0.8484	9	0.87932	D	0	.	7.7183	0.28717	0.0:0.1175:0.0:0.8825	.	140	Q9Y5F2	PCDBB_HUMAN	P	140	ENSP00000346802:L140P	ENSP00000346802:L140P	L	+	2	0	PCDHB11	140559950	0.634000	0.27190	0.014000	0.15608	0.990000	0.78478	4.577000	0.60922	1.226000	0.43582	0.383000	0.25322	CTA		0.413	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		C	140579766	T	C	140579766	3	2	267	1	0	0	0	0	1	0	0	0	11536	1522	53	4	421	4	PCDHB11	5	140579766	Missense_Mutation	SNP	T	TCGA-24-2024-01A-02W-0722-08	638570	140579766	40335494	29	15001											
PCDHGA10	56106	broad.mit.edu	37	5	140793949	140793949	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr5:140793949G>C	ENST00000398610.2	+	1	1207	c.1207G>C	c.(1207-1209)Gac>Cac	p.D403H	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	403	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTCCATTGACAGTTATTA	0.428																																																0			5											82	83	83					5																	140793949		1902	4118	6020	140774133	SO:0001583	missense	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1207G>C	5.37:g.140793949G>C	ENSP00000381611:p.Asp403His		140774133	Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	11.24	1.581803	0.28180	.	.	ENSG00000253846	ENST00000398610	T	0.52057	0.68	5.42	4.55	0.56014	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68412	0.2998	M	0.85197	2.74	0.09310	N	1	D;D	0.63880	0.993;0.989	D;P	0.63877	0.919;0.897	T	0.61510	-0.7048	9	0.72032	D	0.01	.	10.8163	0.46578	0.1535:0.0:0.8465:0.0	.	403;403	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	H	403	ENSP00000381611:D403H	ENSP00000381611:D403H	D	+	1	0	PCDHGA10	140774133	0.000000	0.05858	0.048000	0.18961	0.805000	0.45488	0.656000	0.24948	1.271000	0.44313	0.650000	0.86243	GAC		0.428	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		C	140793949	G	C	140793949	3	2	267	1	0	0	0	0	1	0	0	0	11551	1290	45	3	1209	3	PCDHGA10	5	140793949	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	214183	140793949	40121311	30	15002											
CAGE1	285782	broad.mit.edu	37	6	7373686	7373686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr6:7373686G>A	ENST00000512086.1	-	5	1568	c.1366C>T	c.(1366-1368)Caa>Taa	p.Q456*	CAGE1_ENST00000502583.1_Nonsense_Mutation_p.Q456*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.Q456*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.Q456*|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.Q320*			Q8TC20	CAGE1_HUMAN	cancer antigen 1	456								p.Q456*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTGAGTTGTTGTAGTCTCTCT	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	6											131	113	118					6																	7373686		1827	4079	5906	7318685	SO:0001587	stop_gained	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1366C>T	6.37:g.7373686G>A	ENSP00000427583:p.Gln456*		7318685	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Nonsense_Mutation	SNP	ENST00000512086.1	37		.	.	.	.	.	.	.	.	.	.	G	18.50	3.638460	0.67130	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	.	.	.	5.66	4.79	0.61399	.	0.205925	0.34386	N	0.004017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.4108	12.0709	0.53616	0.0:0.0:0.828:0.172	.	.	.	.	X	456;456;456;320;456;456;456;468	.	ENSP00000296742:Q320X	Q	-	1	0	CAGE1	7318685	0.922000	0.31269	0.249000	0.24280	0.009000	0.06853	1.910000	0.39927	1.377000	0.46286	0.591000	0.81541	CAA		0.378	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		A	7373686	G	A	7373686	4	1	267	1	0	0	0	0	0	1	0	0	2572	1386	48	2	1299	2	CAGE1	6	7373686	Nonsense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08		7373686	163741381	31	15003											
NOTCH4	4855	broad.mit.edu	37	6	32163801	32163801	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr6:32163801G>T	ENST00000375023.3	-	30	5563	c.5425C>A	c.(5425-5427)Caa>Aaa	p.Q1809K	NOTCH4_ENST00000443903.2_Missense_Mutation_p.P185Q|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1809					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.Q1809K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGGTTACGTTGGTGAGCGACG	0.716																																																1	Substitution - Missense(1)	ovary(1)	6											9	12	11					6																	32163801		1401	2638	4039	32271779	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5425C>A	6.37:g.32163801G>T	ENSP00000364163:p.Gln1809Lys		32271779	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.65|18.65	3.670545|3.670545	0.67814|0.67814	.|.	.|.	ENSG00000204301|ENSG00000204301	ENST00000443903|ENST00000375023	T|T	0.71461|0.70986	-0.57|-0.53	4.71|4.71	4.71|4.71	0.59529|0.59529	.|Ankyrin repeat-containing domain (3);	.|0.182554	.|0.26605	.|N	.|0.023447	T|T	0.51126|0.51126	0.1656|0.1656	L|L	0.52206|0.52206	1.635|1.635	0.28394|0.28394	N|N	0.918934|0.918934	P|B;B	0.37015|0.24483	0.578|0.034;0.104	B|B;B	0.33042|0.27076	0.157|0.076;0.039	T|T	0.53041|0.53041	-0.8494|-0.8494	9|10	0.30854|0.72032	T|D	0.27|0.01	.|.	11.2479|11.2479	0.49008|0.49008	0.0:0.1851:0.8149:0.0|0.0:0.1851:0.8149:0.0	.|.	185|1809;1808	B4DFM3|Q99466;B0S882	.|NOTC4_HUMAN;.	Q|K	185|1809	ENSP00000398123:P185Q|ENSP00000364163:Q1809K	ENSP00000398123:P185Q|ENSP00000364163:Q1809K	P|Q	-|-	2|1	0|0	NOTCH4|NOTCH4	32271779|32271779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.066000|0.066000	0.16364|0.16364	3.760000|3.760000	0.55235|0.55235	2.598000|2.598000	0.87819|0.87819	0.563000|0.563000	0.77884|0.77884	CCA|CAA		0.716	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32163801	G	T	32163801	3	4	267	1	0	0	0	0	1	0	0	0	10551	1357	47	3	590	3	NOTCH4	6	32163801	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	24790115	32163801	138951266	32	15004											
MDN1	23195	broad.mit.edu	37	6	90368337	90368337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr6:90368337G>A	ENST00000369393.3	-	89	15128	c.15013C>T	c.(15013-15015)Cag>Tag	p.Q5005*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q5005*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5005					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.Q5005*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACCTGGGGCTGGAAACCTTGG	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	6											191	170	177					6																	90368337		2203	4300	6503	90425058	SO:0001587	stop_gained	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15013C>T	6.37:g.90368337G>A	ENSP00000358400:p.Gln5005*		90425058	O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	55	25.090295	0.99963	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.37	4.44	0.53790	.	0.153390	0.43416	D	0.000579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	7.4868	0.27439	0.0793:0.0:0.6494:0.2713	.	.	.	.	X	5005	.	ENSP00000358400:Q5005X	Q	-	1	0	MDN1	90425058	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.602000	0.46257	2.667000	0.90743	0.561000	0.74099	CAG		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90368337	G	A	90368337	4	1	267	1	0	0	0	0	0	1	0	0	9415	1357	47	2	1833	2	MDN1	6	90368337	Nonsense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	58204536	90368337	80746730	33	15005											
C7orf58	79974	broad.mit.edu	37	7	120767266	120767266	+	Silent	SNP	A	A	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr7:120767266A>T	ENST00000310396.5	+	10	1724	c.1257A>T	c.(1255-1257)atA>atT	p.I419I	CPED1_ENST00000450913.2_Silent_p.I419I|CPED1_ENST00000423795.1_Silent_p.I199I	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	419						endoplasmic reticulum (GO:0005783)		p.I419I(1)									CACTTTCCATATTTTCTGAGA	0.289																																																1	Substitution - coding silent(1)	ovary(1)	7											88	94	92					7																	120767266		2200	4294	6494	120554502	SO:0001819	synonymous_variant	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1257A>T	7.37:g.120767266A>T			120554502	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	CCDS34739.1																																																																																				0.289	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		T	120767266	A	T	120767266	2	4	267	1	0	0	0	0	0	0	0	1	2405	439	16	5		5	C7orf58	7	120767266	Silent	SNP	A	TCGA-24-2024-01A-02W-0722-08		120767266	38371397	34	15006											
TAS2R40	259286	broad.mit.edu	37	7	142919714	142919714	+	Silent	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr7:142919714G>A	ENST00000408947.3	+	1	585	c.543G>A	c.(541-543)acG>acA	p.T181T	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	181					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.T181T(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCAACTCCACGGAGAAGAAGT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	7											141	132	135					7																	142919714		1912	4129	6041	142629836	SO:0001819	synonymous_variant	259286			AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18885	protein-coding gene	gene with protein product		613964	"G protein-coupled receptor 60"	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.543G>A	7.37:g.142919714G>A			142629836	A4D2I2|Q645W6	Silent	SNP	ENST00000408947.3	37	CCDS43662.1																																																																																				0.458	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			A	142919714	G	A	142919714	2	1	267	1	0	0	0	0	0	0	0	1	15578	1103	39	1		1	TAS2R40	7	142919714	Silent	SNP	G	TCGA-24-2024-01A-02W-0722-08	22152448	142919714	16218949	35	15007											
DCTN6	10671	broad.mit.edu	37	8	30032648	30032648	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr8:30032648G>A	ENST00000221114.3	+	3	223	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	DCTN6_ENST00000520829.1_Missense_Mutation_p.G46R|RP11-51J9.4_ENST00000523733.1_RNA	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	46					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)		p.G46R(1)		endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		TGCGGAAGCCGGGCCAATAGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	8											54	51	52					8																	30032648		2203	4300	6503	30152190	SO:0001583	missense	10671			D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.136G>A	8.37:g.30032648G>A	ENSP00000221114:p.Gly46Arg		30152190	B2RAC1	Missense_Mutation	SNP	ENST00000221114.3	37	CCDS6076.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953855	0.73902	.	.	ENSG00000104671	ENST00000221114;ENST00000520829	.	.	.	5.32	5.32	0.75619	Trimeric LpxA-like (1);	0.049868	0.85682	D	0.000000	D	0.84991	0.5595	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87723	0.2574	8	.	.	.	-15.2584	16.4948	0.84237	0.0:0.0:1.0:0.0	.	46	O00399	DCTN6_HUMAN	R	46	.	.	G	+	1	0	DCTN6	30152190	1.000000	0.71417	0.964000	0.40570	0.355000	0.29361	8.277000	0.89896	2.474000	0.83562	0.655000	0.94253	GGG		0.428	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375815.2	NM_006571		A	30032648	G	A	30032648	3	1	267	1	0	0	0	0	1	0	0	0	4311	1116	39	1	146	1	DCTN6	8	30032648	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08		30032648	116331374	36	15008											
RB1CC1	9821	broad.mit.edu	37	8	53555017	53555017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr8:53555017C>A	ENST00000025008.5	-	18	4754	c.4231G>T	c.(4231-4233)Gga>Tga	p.G1411*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.G1411*|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.G1411*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1411					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.G1411*(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCACAAGCTCCATAAAGTTCT	0.443																																					GBM(180;1701 2102 13475 42023 52570)											1	Substitution - Nonsense(1)	ovary(1)	8											126	120	122					8																	53555017		2203	4300	6503	53717570	SO:0001587	stop_gained	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4231G>T	8.37:g.53555017C>A	ENSP00000025008:p.Gly1411*		53717570	Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	48	14.502656	0.99798	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.55	5.55	0.83447	.	0.058105	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-27.5906	18.4711	0.90774	0.0:1.0:0.0:0.0	.	.	.	.	X	1411	.	ENSP00000025008:G1411X	G	-	1	0	RB1CC1	53717570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.348000	0.59379	2.596000	0.87737	0.655000	0.94253	GGA		0.443	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53555017	C	A	53555017	4	1	267	1	0	0	0	0	0	1	0	0	13102	603	21	3	581	3	RB1CC1	8	53555017	Nonsense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	23522369	53555017	92809005	37	15009											
CSMD3	114788	broad.mit.edu	37	8	113277815	113277815	+	Silent	SNP	G	G	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr8:113277815G>T	ENST00000297405.5	-	60	9757	c.9513C>A	c.(9511-9513)atC>atA	p.I3171I	CSMD3_ENST00000455883.2_Silent_p.I3002I|CSMD3_ENST00000343508.3_Silent_p.I3131I|CSMD3_ENST00000352409.3_Silent_p.I3101I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3171	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I3171I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCCACAACTGATTACTGTCA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - coding silent(1)	ovary(1)	8											136	118	124					8																	113277815		2203	4300	6503	113346991	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9513C>A	8.37:g.113277815G>T			113346991	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113277815	G	T	113277815	2	4	267	1	0	0	0	0	0	0	0	1	3946	1280	45	3		3	CSMD3	8	113277815	Silent	SNP	G	TCGA-24-2024-01A-02W-0722-08	59722798	113277815	33086207	38	15010											
DENND4C	55667	broad.mit.edu	37	9	19346478	19346478	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr9:19346478T>G	ENST00000380432.2	+	18	2889	c.2856T>G	c.(2854-2856)atT>atG	p.I952M	DENND4C_ENST00000602925.1_Missense_Mutation_p.I1188M|DENND4C_ENST00000434457.2_Missense_Mutation_p.I1237M			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	952					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I952M(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TATATGGTATTGCTAAGGTGG	0.378																																																1	Substitution - Missense(1)	ovary(1)	9											77	77	77					9																	19346478		2203	4300	6503	19336478	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2856T>G	9.37:g.19346478T>G	ENSP00000369797:p.Ile952Met		19336478	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	T	11.02	1.516501	0.27123	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.23348	1.91;1.91	5.81	0.553	0.17235	.	1.023860	0.07795	N	0.955599	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	B;B;B;B	0.23806	0.007;0.091;0.071;0.055	B;B;B;B	0.25987	0.012;0.065;0.009;0.018	T	0.32981	-0.9886	10	0.59425	D	0.04	-5.6612	2.1049	0.03688	0.1211:0.1645:0.3935:0.3209	.	282;952;134;952	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	M	952;425;134;282;425;134	ENSP00000305795:I425M;ENSP00000443804:I282M	ENSP00000305795:I425M	I	+	3	3	DENND4C	19336478	0.004000	0.15560	0.816000	0.32577	0.829000	0.46940	0.072000	0.14617	0.436000	0.26393	0.528000	0.53228	ATT		0.378	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		G	19346478	T	G	19346478	3	3	267	1	0	0	0	0	1	0	0	0	4435	1800	63	5	2926	5	DENND4C	9	19346478	Missense_Mutation	SNP	T	TCGA-24-2024-01A-02W-0722-08		19346478	121866953	39	15011											
UNC13B	10497	broad.mit.edu	37	9	35386219	35386219	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr9:35386219G>T	ENST00000378495.3	+	23	2998	c.2776G>T	c.(2776-2778)Gcc>Tcc	p.A926S	UNC13B_ENST00000396787.1_Missense_Mutation_p.A938S|UNC13B_ENST00000378496.4_Missense_Mutation_p.A926S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	926					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.A926S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTGTGTGAAGGCCTGTTTGAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	9											80	82	81					9																	35386219		2203	4300	6503	35376219	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2776G>T	9.37:g.35386219G>T	ENSP00000367756:p.Ala926Ser		35376219	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032331	0.93575	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.85484	-1.87;-1.8;-1.99	4.86	4.86	0.63082	Calcium-dependent secretion activator (1);	0.047161	0.85682	D	0.000000	D	0.92528	0.7627	M	0.85373	2.75	0.80722	D	1	D;D	0.59767	0.972;0.986	P;D	0.63283	0.737;0.913	D	0.93261	0.6643	10	0.62326	D	0.03	-14.5671	18.5513	0.91066	0.0:0.0:1.0:0.0	.	926;926	F8W8M9;O14795	.;UN13B_HUMAN	S	938;926;926;513	ENSP00000380006:A938S;ENSP00000367756:A926S;ENSP00000367757:A926S	ENSP00000367756:A926S	A	+	1	0	UNC13B	35376219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.492000	0.97957	2.683000	0.91414	0.655000	0.94253	GCC		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		T	35386219	G	T	35386219	3	4	267	1	0	0	0	0	1	0	0	0	16985	1203	42	3	2866	3	UNC13B	9	35386219	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	16039741	35386219	105827212	40	15012											
BAAT	570	broad.mit.edu	37	9	104130402	104130403	+	Splice_Site	INS	-	-	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	-	-	T	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr9:104130402_104130403insT	ENST00000395051.3	-	2	738_739	c.668_669insA	c.(667-669)aag>aaAg	p.K223fs	BAAT_ENST00000259407.2_Splice_Site_p.K223fs			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	223					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.V224fs*35(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAAAAATTACCTTTGGATGTCT	0.436																																																1	Insertion - Frameshift(1)	ovary(1)	9																																								103170224	SO:0001630	splice_region_variant	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.669+1->A	9.37:g.104130405_104130405dupT			103170223	Q3B7W9|Q96L31	Frame_Shift_Ins	INS	ENST00000395051.3	37	CCDS6752.1																																																																																				0.436	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1		Frame_Shift_Ins	T	104130403	-	T	104130402	8	5	267	1	0	1	1	0	0	0	1	0	1280	695	24	0	595	0	BAAT	9	104130402	Splice_Site	INS	-	TCGA-24-2024-01A-02W-0722-08	68744183	104130402	37083029	41	15013											
OR1N2	138882	broad.mit.edu	37	9	125316167	125316167	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr9:125316167G>T	ENST00000373688.2	+	1	777	c.719G>T	c.(718-720)tGg>tTg	p.W240L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W240L(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CGCATTTTCTGGGCTGTGTTT	0.502																																																1	Substitution - Missense(1)	ovary(1)	9											248	237	241					9																	125316167		2203	4300	6503	124355988	SO:0001583	missense	138882				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.719G>T	9.37:g.125316167G>T	ENSP00000362792:p.Trp240Leu		124355988	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	2.408	-0.336035	0.05278	.	.	ENSG00000171501	ENST00000373688	T	0.34472	1.36	4.56	0.172	0.15031	GPCR, rhodopsin-like superfamily (1);	1.787910	0.03970	N	0.291485	T	0.14743	0.0356	N	0.01019	-1.045	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23440	-1.0188	10	0.62326	D	0.03	.	7.3249	0.26549	0.1839:0.529:0.2871:0.0	.	240	Q8NGR9	OR1N2_HUMAN	L	240	ENSP00000362792:W240L	ENSP00000362792:W240L	W	+	2	0	OR1N2	124355988	0.000000	0.05858	0.003000	0.11579	0.940000	0.58332	-2.749000	0.00793	0.162000	0.19483	0.644000	0.83932	TGG		0.502	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			T	125316167	G	T	125316167	3	4	267	1	0	0	0	0	1	0	0	0	10970	1357	47	3	721	3	OR1N2	9	125316167	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	21185765	125316167	15897264	42	15014											
HK1	3098	broad.mit.edu	37	10	71119673	71119673	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr10:71119673C>G	ENST00000359426.6	+	3	351	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V	HK1_ENST00000298649.3_Missense_Mutation_p.L82V|HK1_ENST00000404387.2_Missense_Mutation_p.L87V|HK1_ENST00000448642.2_Missense_Mutation_p.L118V|HK1_ENST00000360289.2_Missense_Mutation_p.L71V|HK1_ENST00000494253.1_3'UTR	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	83	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.L87V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TTTCATTGCCCTGGATCTTGG	0.478																																																1	Substitution - Missense(1)	ovary(1)	10											156	138	144					10																	71119673		2203	4300	6503	70789679	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.247C>G	10.37:g.71119673C>G	ENSP00000352398:p.Leu83Val		70789679	E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442426	0.43326	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.51	1.35	0.21983	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	L	0.54323	1.7	0.58432	D	0.999999	D;B;B;B;B	0.89917	1.0;0.197;0.235;0.197;0.355	D;B;B;B;B	0.91635	0.999;0.159;0.246;0.159;0.214	T	0.64984	-0.6278	10	0.72032	D	0.01	-17.3959	9.6815	0.40072	0.0:0.6982:0.0:0.3018	.	83;82;118;87;71	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	V	87;71;118;71;87;82;82;83;83	ENSP00000409761:L87V;ENSP00000353433:L71V;ENSP00000402103:L118V;ENSP00000398316:L71V;ENSP00000384774:L87V;ENSP00000415949:L82V;ENSP00000298649:L82V;ENSP00000352398:L83V	ENSP00000298649:L82V	L	+	1	2	HK1	70789679	0.017000	0.18338	0.983000	0.44433	0.979000	0.70002	0.264000	0.18497	-0.013000	0.14199	-1.051000	0.02340	CTG		0.478	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		G	71119673	C	G	71119673	3	3	267	1	0	0	0	0	1	0	0	0	7190	680	24	3	435	3	HK1	10	71119673	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08		71119673	64415074	43	15015											
ODF3	113746	broad.mit.edu	37	11	197577	197577	+	Silent	SNP	G	G	A	rs374039790		TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr11:197577G>A	ENST00000325113.4	+	3	443	c.126G>A	c.(124-126)acG>acA	p.T42T	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000342593.5_Silent_p.T42T|ODF3_ENST00000525282.1_Silent_p.T42T	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	42					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)		p.T42T(1)		biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGAAGCACACGCCCACCAAGC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	11						G		0,4406		0,0,2203	39	38	38		126	-10	0.6	11		38	1,8599		0,1,4299	no	coding-synonymous	ODF3	NM_053280.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		42/255	197577	1,13005	2203	4300	6503	187577	SO:0001819	synonymous_variant	113746			AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"cancer/testis antigen 135"	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.126G>A	11.37:g.197577G>A			187577	B7ZLT0|Q69YX0	Silent	SNP	ENST00000325113.4	37	CCDS7688.1																																																																																				0.652	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1			A	197577	G	A	197577	2	1	267	1	0	0	0	0	0	0	0	1	10829	1074	38	1		1	ODF3	11	197577	Silent	SNP	G	TCGA-24-2024-01A-02W-0722-08		197577	134808939	44	15016											
NELL1	4745	broad.mit.edu	37	11	21135138	21135138	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr11:21135138T>A	ENST00000357134.5	+	13	1456	c.1304T>A	c.(1303-1305)aTt>aAt	p.I435N	NELL1_ENST00000325319.5_Missense_Mutation_p.I378N|NELL1_ENST00000532434.1_Missense_Mutation_p.I435N|NELL1_ENST00000298925.5_Missense_Mutation_p.I463N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	435	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.I435N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTTCAGATATTGATGAGTGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11											239	216	224					11																	21135138		2203	4300	6503	21091714	SO:0001583	missense	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1304T>A	11.37:g.21135138T>A	ENSP00000349654:p.Ile435Asn		21091714	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001673	0.74932	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.29	5.29	0.74685	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	M	0.65677	2.01	0.58432	D	0.999996	D;D;D;D	0.76494	0.997;0.999;0.996;0.996	D;D;D;D	0.87578	0.994;0.998;0.945;0.941	D	0.96325	0.9239	10	0.87932	D	0	-3.7774	13.7975	0.63180	0.0:0.0:0.0:1.0	.	378;463;435;435	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	N	463;435;378;435	ENSP00000298925:I463N;ENSP00000349654:I435N;ENSP00000317837:I378N;ENSP00000437170:I435N	ENSP00000298925:I463N	I	+	2	0	NELL1	21091714	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.447000	0.80620	1.998000	0.58463	0.482000	0.46254	ATT		0.358	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		A	21135138	T	A	21135138	3	1	267	1	0	0	0	0	1	0	0	0	10333	1493	52	5	1354	5	NELL1	11	21135138	Missense_Mutation	SNP	T	TCGA-24-2024-01A-02W-0722-08	20937561	21135138	113871378	45	15017											
MYBPC3	4607	broad.mit.edu	37	11	47354410	47354410	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr11:47354410C>T	ENST00000545968.1	-	31	3499	c.3445G>A	c.(3445-3447)Gac>Aac	p.D1149N	MYBPC3_ENST00000399249.2_Missense_Mutation_p.D1149N|MYBPC3_ENST00000256993.4_Missense_Mutation_p.D1148N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1149	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D1149N(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCCGCTCTGTCACTAAAGCCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	11											40	43	42					11																	47354410		1982	4140	6122	47310986	SO:0001583	missense	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3445G>A	11.37:g.47354410C>T	ENSP00000442795:p.Asp1149Asn		47310986	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826022	0.50739	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	D;D;D	0.86562	-2.14;-2.14;-2.14	5.17	4.24	0.50183	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91556	0.7333	M	0.79258	2.445	0.29925	N	0.822416	B	0.33777	0.425	P	0.48488	0.579	D	0.89546	0.3796	9	0.87932	D	0	.	13.9295	0.63986	0.1536:0.8464:0.0:0.0	.	1148	Q14896	MYPC3_HUMAN	N	1149;1149;1148	ENSP00000442795:D1149N;ENSP00000382193:D1149N;ENSP00000256993:D1148N	ENSP00000256993:D1148N	D	-	1	0	MYBPC3	47310986	0.651000	0.27340	0.732000	0.30844	0.108000	0.19459	2.474000	0.45154	1.164000	0.42652	-0.188000	0.12872	GAC		0.582	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			T	47354410	C	T	47354410	3	4	267	1	0	0	0	0	1	0	0	0	10013	826	29	2	395	2	MYBPC3	11	47354410	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	26219272	47354410	87652106	46	15018											
SLC29A2	3177	broad.mit.edu	37	11	66130950	66130950	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr11:66130950G>T	ENST00000357440.2	-	12	1556	c.1328C>A	c.(1327-1329)tCc>tAc	p.S443Y	RP11-867G23.8_ENST00000531602.1_Nonsense_Mutation_p.E67*|RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000544554.1_Missense_Mutation_p.S443Y|SLC29A2_ENST00000311161.7_3'UTR|SLC29A2_ENST00000546034.1_Missense_Mutation_p.S443Y	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	443					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.S443Y(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGCTCCACAGGAAAGTCCCAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	11											70	64	66					11																	66130950		2199	4295	6494	65887526	SO:0001583	missense	3177			X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"Solute carriers"	11004	protein-coding gene	gene with protein product		602110	"solute carrier family 29 (nucleoside transporters), member 2"	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.1328C>A	11.37:g.66130950G>T	ENSP00000350024:p.Ser443Tyr		65887526	B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	CCDS8137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.298423|4.298423	0.81025|0.81025	.|.	.|.	ENSG00000255468|ENSG00000174669	ENST00000531602|ENST00000357440;ENST00000544554;ENST00000546034	.|T;T;T	.|0.81415	.|-1.49;-1.49;-1.49	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|0.057001	.|0.64402	.|D	.|0.000001	.|D	.|0.86772	.|0.6013	M|M	0.66939|0.66939	2.045|2.045	0.51233|0.51233	D|D	0.999919|0.999919	.|D	.|0.63046	.|0.992	.|D	.|0.66847	.|0.947	.|D	.|0.84479	.|0.0604	.|10	0.87932|0.25751	D|T	0|0.34	-35.7251|-35.7251	14.9343|14.9343	0.70941|0.70941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|443	.|Q14542	.|S29A2_HUMAN	X|Y	67|443	.|ENSP00000350024:S443Y;ENSP00000439456:S443Y;ENSP00000440329:S443Y	ENSP00000435142:E67X|ENSP00000350024:S443Y	E|S	+|-	1|2	0|0	RP11-867G23.8|SLC29A2	65887526|65887526	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.814000|0.814000	0.46013|0.46013	8.988000|8.988000	0.93501|0.93501	2.395000|2.395000	0.81488|0.81488	0.585000|0.585000	0.79938|0.79938	GAA|TCC		0.617	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		T	66130950	G	T	66130950	3	4	267	1	0	0	0	0	1	0	0	0	14538	1174	41	3	46	3	SLC29A2	11	66130950	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	18776540	66130950	68875566	47	15019											
BBS1	582	broad.mit.edu	37	11	66299139	66299139	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr11:66299139G>C	ENST00000318312.7	+	16	1672	c.1621G>C	c.(1621-1623)Gtg>Ctg	p.V541L	BBS1_ENST00000393994.2_Missense_Mutation_p.V412L|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.V578L|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.V444L	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	541					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.V541L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						ACCCTTGCTGGTGCCAGGGCT	0.547									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)											1	Substitution - Missense(1)	ovary(1)	11											187	178	181					11																	66299139		2200	4295	6495	66055715	SO:0001583	missense	582	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1621G>C	11.37:g.66299139G>C	ENSP00000317469:p.Val541Leu		66055715	Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780491	0.90195	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.96774	-4.05;-4.12;-3.93;-3.8	5.79	5.79	0.91817	.	.	.	.	.	D	0.96790	0.8952	L	0.49778	1.585	0.80722	D	1	D;D;B;D;D;D	0.61697	0.957;0.99;0.067;0.981;0.976;0.976	P;P;B;P;P;P	0.60173	0.514;0.87;0.12;0.845;0.698;0.741	D	0.95656	0.8711	9	0.31617	T	0.26	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	216;444;412;429;541;578	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	L	578;541;444;412	ENSP00000398526:V578L;ENSP00000317469:V541L;ENSP00000405764:V444L;ENSP00000377563:V412L	ENSP00000317469:V541L	V	+	1	0	BBS1;CTD-3074O7.11	66055715	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.534000	0.90620	2.733000	0.93635	0.655000	0.94253	GTG		0.547	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			C	66299139	G	C	66299139	3	2	267	1	0	0	0	0	1	0	0	0	1335	1261	44	3	1683	3	BBS1	11	66299139	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	168189	66299139	68707377	48	15020											
SORL1	6653	broad.mit.edu	37	11	121414435	121414435	+	Splice_Site	SNP	G	G	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr11:121414435G>T	ENST00000260197.7	+	13	1993	c.1864G>T	c.(1864-1866)Gga>Tga	p.G622*	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	622					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.G622*(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGATGCCTTGGGTAAGCTGCT	0.507																																																1	Substitution - Nonsense(1)	ovary(1)	11											133	112	119					11																	121414435		2203	4299	6502	120919645	SO:0001630	splice_region_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1864+1G>T	11.37:g.121414435G>T			120919645	B2RNX7|Q92856	Nonsense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	40	8.387335	0.98789	.	.	ENSG00000137642	ENST00000260197	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.8045	0.96525	0.0:0.0:1.0:0.0	.	.	.	.	X	622	.	ENSP00000260197:G622X	G	+	1	0	SORL1	120919645	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.722000	0.84778	2.676000	0.91093	0.655000	0.94253	GGA		0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Nonsense_Mutation	T	121414435	G	T	121414435	5	4	267	1	0	0	0	0	0	0	1	0	14937	1246	43	3	1914	3	SORL1	11	121414435	Splice_Site	SNP	G	TCGA-24-2024-01A-02W-0722-08	55115296	121414435	13592081	49	15021											
OR10G4	390264	broad.mit.edu	37	11	123887171	123887171	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr11:123887171C>T	ENST00000320891.4	+	1	890	c.890C>T	c.(889-891)gCt>gTt	p.A297V		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A297V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGAAGAAAGCTGTGTTGAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	11											75	71	72					11																	123887171		2201	4299	6500	123392381	SO:0001583	missense	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.890C>T	11.37:g.123887171C>T	ENSP00000325076:p.Ala297Val		123392381	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	10.88	1.474551	0.26511	.	.	ENSG00000254737	ENST00000320891	T	0.44881	0.91	3.38	3.38	0.38709	.	0.000000	0.41396	D	0.000895	T	0.38612	0.1047	L	0.46567	1.45	0.09310	N	1	B	0.19331	0.035	B	0.27170	0.077	T	0.44862	-0.9300	10	0.66056	D	0.02	.	13.0881	0.59153	0.0:1.0:0.0:0.0	.	297	Q8NGN3	O10G4_HUMAN	V	297	ENSP00000325076:A297V	ENSP00000325076:A297V	A	+	2	0	OR10G4	123392381	0.672000	0.27530	0.446000	0.26920	0.878000	0.50629	4.423000	0.59861	1.900000	0.55004	0.580000	0.79431	GCT		0.393	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		T	123887171	C	T	123887171	3	4	267	1	0	0	0	0	1	0	0	0	10901	797	28	2	892	2	OR10G4	11	123887171	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	2472736	123887171	11119345	50	15022											
SLC2A3	6515	broad.mit.edu	37	12	8084025	8084025	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr12:8084025C>A	ENST00000075120.7	-	4	566	c.326G>T	c.(325-327)gGa>gTa	p.G109V		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	109					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.G109V(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTTACACAGTCCCATAAAGCA	0.458																																					Colon(96;424 1461 14416 20933 23688)											1	Substitution - Missense(1)	ovary(1)	12											101	95	97					12																	8084025		2203	4300	6503	7975292	SO:0001583	missense	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.326G>T	12.37:g.8084025C>A	ENSP00000075120:p.Gly109Val		7975292	B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749042	0.49257	.	.	ENSG00000059804	ENST00000075120;ENST00000540978;ENST00000544291	D;D	0.82344	-1.6;-1.6	4.37	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.049515	0.85682	D	0.000000	D	0.88647	0.6493	L	0.58669	1.825	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.73380	0.954;0.98	D	0.89107	0.3493	10	0.56958	D	0.05	.	14.8038	0.69935	0.0:1.0:0.0:0.0	.	35;109	F5H2H8;P11169	.;GTR3_HUMAN	V	109;35;78	ENSP00000075120:G109V;ENSP00000440750:G78V	ENSP00000075120:G109V	G	-	2	0	SLC2A3	7975292	0.990000	0.36364	0.963000	0.40424	0.014000	0.08584	2.746000	0.47467	2.426000	0.82243	0.555000	0.69702	GGA		0.458	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		A	8084025	C	A	8084025	3	1	267	1	0	0	0	0	1	0	0	0	14548	855	30	3	1192	3	SLC2A3	12	8084025	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08		8084025	125767870	51	15023											
ST8SIA1	6489	broad.mit.edu	37	12	22487101	22487101	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr12:22487101C>G	ENST00000396037.4	-	1	547	c.66G>C	c.(64-66)aaG>aaC	p.K22N	ST8SIA1_ENST00000404299.3_Missense_Mutation_p.K22N|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.K22N|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	22					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.K22N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCCGCGGGAACTTCCACGCCA	0.706																																																1	Substitution - Missense(1)	ovary(1)	12											68	68	68					12																	22487101		2203	4300	6503	22378368	SO:0001583	missense	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.66G>C	12.37:g.22487101C>G	ENSP00000379353:p.Lys22Asn		22378368	A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737015	0.49045	.	.	ENSG00000111728	ENST00000396037;ENST00000404299;ENST00000381424	T	0.26810	1.71	4.58	2.73	0.32206	.	0.217303	0.47093	D	0.000250	T	0.18045	0.0433	L	0.47716	1.5	0.80722	D	1	P	0.43826	0.818	B	0.34536	0.185	T	0.02713	-1.1120	10	0.59425	D	0.04	-16.8217	8.095	0.30822	0.0:0.8096:0.0:0.1904	.	22	Q92185	SIA8A_HUMAN	N	22	ENSP00000379353:K22N	ENSP00000261197:K22N	K	-	3	2	ST8SIA1	22378368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.371000	0.34250	0.619000	0.30197	0.655000	0.94253	AAG		0.706	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		G	22487101	C	G	22487101	3	3	267	1	0	0	0	0	1	0	0	0	15233	564	20	3	1024	3	ST8SIA1	12	22487101	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	14403076	22487101	111364794	52	15024											
MAP3K12	7786	broad.mit.edu	37	12	53875792	53875792	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr12:53875792G>A	ENST00000267079.2	-	14	2639	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L	MAP3K12_ENST00000547035.1_Missense_Mutation_p.S838L|MAP3K12_ENST00000547488.1_Missense_Mutation_p.S838L	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	805					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.S805L(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GATGACCTCTGAAGGAGGTGG	0.562											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											102	95	97					12																	53875792		2203	4300	6503	52162059	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2414C>T	12.37:g.53875792G>A	ENSP00000267079:p.Ser805Leu	996	52162059	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904930	0.33628	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.56275	0.47;0.47;0.47	4.37	3.48	0.39840	.	0.000000	0.39020	N	0.001484	T	0.27313	0.0670	N	0.03608	-0.345	0.37328	D	0.909837	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.18335	-1.0340	10	0.87932	D	0	.	8.3043	0.32034	0.1061:0.0:0.8939:0.0	.	838;805	G3V1Y2;Q12852	.;M3K12_HUMAN	L	805;838;838	ENSP00000267079:S805L;ENSP00000449038:S838L;ENSP00000448689:S838L	ENSP00000267079:S805L	S	-	2	0	MAP3K12	52162059	1.000000	0.71417	0.600000	0.28864	0.579000	0.36224	2.151000	0.42263	1.445000	0.47624	-0.339000	0.08088	TCA		0.562	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		A	53875792	G	A	53875792	3	1	267	1	0	0	0	0	1	0	0	0	9246	1294	45	2	173	2	MAP3K12	12	53875792	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	31388691	53875792	79976103	53	15025											
XPOT	11260	broad.mit.edu	37	12	64827256	64827256	+	Silent	SNP	G	G	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr12:64827256G>C	ENST00000332707.5	+	19	2854	c.2325G>C	c.(2323-2325)gtG>gtC	p.V775V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	775	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.V775V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTTTTGAAGTGCTGCTCCGGC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	12											133	131	132					12																	64827256		2203	4300	6503	63113523	SO:0001819	synonymous_variant	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2325G>C	12.37:g.64827256G>C			63113523	A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	CCDS31852.1																																																																																				0.433	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		C	64827256	G	C	64827256	2	2	267	1	0	0	0	0	0	0	0	1	17450	1306	46	3		3	XPOT	12	64827256	Silent	SNP	G	TCGA-24-2024-01A-02W-0722-08	10951464	64827256	69024639	54	15026											
SERPINE3	647174	broad.mit.edu	37	13	51921272	51921272	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr13:51921272G>T	ENST00000521255.1	+	3	662	c.602G>T	c.(601-603)aGa>aTa	p.R201I	SERPINE3_ENST00000400389.4_Missense_Mutation_p.R201I|SERPINE3_ENST00000524365.1_Missense_Mutation_p.R201I|MIR5693_ENST00000577722.1_RNA	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	201					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R201I(1)		ovary(2)	2						TGGCGAAAGAGATTCTCCTCC	0.567																																																1	Substitution - Missense(1)	ovary(1)	13											122	120	121					13																	51921272		2095	4227	6322	50819273	SO:0001583	missense	647174			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.602G>T	13.37:g.51921272G>T	ENSP00000428316:p.Arg201Ile		50819273	B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978336	0.34942	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	D;D;D	0.84589	-1.87;-1.87;-1.87	4.56	1.77	0.24775	Serpin domain (3);	0.360994	0.21675	U	0.070801	D	0.84570	0.5501	M	0.72894	2.215	0.09310	N	0.999997	P;P	0.50272	0.933;0.889	B;P	0.49752	0.407;0.621	T	0.76350	-0.2991	10	0.87932	D	0	.	4.3993	0.11379	0.271:0.3839:0.3452:0.0	.	201;201	A8MV23-2;A8MV23	.;SERP3_HUMAN	I	201	ENSP00000430755:R201I;ENSP00000428316:R201I;ENSP00000441468:R201I	ENSP00000441468:R201I	R	+	2	0	SERPINE3	50819273	1.000000	0.71417	0.000000	0.03702	0.387000	0.30353	2.216000	0.42871	0.148000	0.19059	0.655000	0.94253	AGA		0.567	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		T	51921272	G	T	51921272	3	4	267	1	0	0	0	0	1	0	0	0	14116	942	33	3	612	3	SERPINE3	13	51921272	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08		51921272	63248606	55	15027											
NEK3	4752	broad.mit.edu	37	13	52709937	52709937	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr13:52709937C>A	ENST00000400357.2	-	12	2479	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	NEK3_ENST00000452082.2_Missense_Mutation_p.D417Y|NEK3_ENST00000378101.2_Missense_Mutation_p.D413Y|NEK3_ENST00000339406.3_Missense_Mutation_p.D413Y			P51956	NEK3_HUMAN	NIMA-related kinase 3	413					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D413Y(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		AACAAAGTGTCAGGGGTCTCT	0.368																																																1	Substitution - Missense(1)	ovary(1)	13											130	118	122					13																	52709937		1849	4085	5934	51607938	SO:0001583	missense	4752			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"serine/threonine-protein kinase NEK3", "phosphorylase B kinase kinase", "glycogen synthase A kinase", "hydroxyalkyl-protein kinase"	604044	"NIMA (never in mitosis gene a)-related kinase 3"			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1186G>T	13.37:g.52709937C>A	ENSP00000383210:p.Asp396Tyr		51607938	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916525	0.33815	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.71934	-0.46;-0.46;-0.61;-0.47;-0.45	5.21	5.21	0.72293	.	0.337359	0.33110	N	0.005278	T	0.61198	0.2328	N	0.14661	0.345	0.09310	N	1	P;P;D	0.53885	0.938;0.938;0.963	B;B;P	0.46825	0.328;0.445;0.528	T	0.61247	-0.7101	10	0.66056	D	0.02	.	15.7148	0.77658	0.0:0.8537:0.1463:0.0	.	413;417;390	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	Y	413;413;396;417;390	ENSP00000339429:D413Y;ENSP00000367341:D413Y;ENSP00000383210:D396Y;ENSP00000404197:D417Y;ENSP00000448716:D390Y	ENSP00000339429:D413Y	D	-	1	0	NEK3	51607938	0.996000	0.38824	0.015000	0.15790	0.117000	0.20001	4.063000	0.57499	2.570000	0.86706	0.655000	0.94253	GAC		0.368	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			A	52709937	C	A	52709937	3	1	267	1	0	0	0	0	1	0	0	0	10325	826	29	3	295	3	NEK3	13	52709937	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	788665	52709937	62459941	56	15028											
OR4K13	390433	broad.mit.edu	37	14	20502054	20502054	+	Silent	SNP	T	T	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr14:20502054T>C	ENST00000315693.2	-	1	865	c.864A>G	c.(862-864)acA>acG	p.T288T	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T288T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GATTTCTTAATGTATAAATAA	0.318																																																1	Substitution - coding silent(1)	ovary(1)	14											18	20	19					14																	20502054		2200	4293	6493	19571894	SO:0001819	synonymous_variant	390433				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.864A>G	14.37:g.20502054T>C			19571894	Q6IF13	Silent	SNP	ENST00000315693.2	37	CCDS32028.1																																																																																				0.318	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			C	20502054	T	C	20502054	2	2	267	1	0	0	0	0	0	0	0	1	11068	1451	51	4		4	OR4K13	14	20502054	Silent	SNP	T	TCGA-24-2024-01A-02W-0722-08		20502054	86847486	57	15029											
FANCM	57697	broad.mit.edu	37	14	45658222	45658222	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr14:45658222G>T	ENST00000267430.5	+	20	5082	c.4997G>T	c.(4996-4998)aGa>aTa	p.R1666I	FANCM_ENST00000542564.2_Missense_Mutation_p.R1640I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1666					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.R1666I(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAATTATCCAGAATTATTTTA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							1	Substitution - Missense(1)	ovary(1)	14											58	64	62					14																	45658222		2203	4300	6503	44727972	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4997G>T	14.37:g.45658222G>T	ENSP00000267430:p.Arg1666Ile		44727972	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.616750|4.616750	0.87359|0.87359	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.30981	.|2.11;2.11;1.51	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|1.241660	.|0.05381	.|N	.|0.537218	T|T	0.62048|0.62048	0.2396|0.2396	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.997	T|T	0.42120|0.42120	-0.9470|-0.9470	5|10	.|0.87932	.|D	.|0	.|.	16.8444|16.8444	0.85976|0.85976	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1640;1666	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	H|I	598|1666;1640;1182	.|ENSP00000267430:R1666I;ENSP00000442493:R1640I;ENSP00000452033:R1182I	.|ENSP00000267430:R1666I	Q|R	+|+	3|2	2|0	FANCM|FANCM	44727972|44727972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	6.849000|6.849000	0.75414|0.75414	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	CAG|AGA		0.313	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		T	45658222	G	T	45658222	3	4	267	1	0	0	0	0	1	0	0	0	5671	942	33	3	5075	3	FANCM	14	45658222	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	25156168	45658222	61691318	58	15030											
TMOD2	29767	broad.mit.edu	37	15	52090499	52090499	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	-	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr15:52090499delG	ENST00000249700.4	+	8	1059	c.838delG	c.(838-840)gaafs	p.E280fs	TMOD2_ENST00000539962.2_Frame_Shift_Del_p.E236fs|TMOD2_ENST00000435126.2_Frame_Shift_Del_p.E244fs	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	280					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.E280fs*5(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GGCACTGAAAGAAAATGACAC	0.453																																																1	Deletion - Frameshift(1)	ovary(1)	15											76	68	71					15																	52090499		2195	4293	6488	49877791	SO:0001589	frameshift_variant	29767			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.838delG	15.37:g.52090499delG	ENSP00000249700:p.Glu280fs		49877791	B4DEW6	Frame_Shift_Del	DEL	ENST00000249700.4	37	CCDS10144.1																																																																																				0.453	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			-	52090499	G	-	52090499	7	5	267	1	0	1	0	1	0	0	0	0	16234	943	33	0	864	0	TMOD2	15	52090499	Frame_Shift_Del	DEL	G	TCGA-24-2024-01A-02W-0722-08		52090499	50440893	59	15031											
MKL2	57496	broad.mit.edu	37	16	14340851	14340851	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr16:14340851G>C	ENST00000341243.5	+	10	1701	c.1701G>C	c.(1699-1701)gaG>gaC	p.E567D	MKL2_ENST00000318282.5_Missense_Mutation_p.E578D|MKL2_ENST00000574045.1_Missense_Mutation_p.E578D|MKL2_ENST00000571589.1_Missense_Mutation_p.E578D			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	567	Required for interaction with itself and with MKL1.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E578D(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAGAAAGAGAAGCAAATCG	0.483																																																1	Substitution - Missense(1)	ovary(1)	16											39	40	39					16																	14340851		2197	4300	6497	14248352	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1701G>C	16.37:g.14340851G>C	ENSP00000345841:p.Glu567Asp		14248352	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	G	10.79	1.449079	0.26074	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.83	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	L	0.28054	0.825	0.43246	D	0.995167	D;D	0.76494	0.999;0.996	D;D	0.76071	0.939;0.987	T	0.51004	-0.8760	9	0.02654	T	1	-35.6622	10.0096	0.41979	0.2264:0.0:0.7736:0.0	.	578;578	B4DGT8;Q9ULH7-4	.;.	D	578;567	.	ENSP00000339086:E578D	E	+	3	2	MKL2	14248352	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.638000	0.74309	1.462000	0.47948	0.655000	0.94253	GAG		0.483	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		C	14340851	G	C	14340851	3	2	267	1	0	0	0	0	1	0	0	0	9602	933	33	3	1772	3	MKL2	16	14340851	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08		14340851	76013902	60	15032											
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V272M	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(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)	CAAACACGCACCTCAAAGCTG	0.527		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"	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	17	GRCh37	CM920676	TP53	M	rs121912657						62	54	57					17																	7577124		2203	4300	6503	7517849	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met		7517849	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577124	C	T	7577124	3	4	267	1	0	0	0	0	1	0	0	0	16381	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08		7577124	73618086	61	15033											
GRB2	2885	broad.mit.edu	37	17	73317818	73317818	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr17:73317818C>G	ENST00000392562.1	-	5	1172	c.390G>C	c.(388-390)gaG>gaC	p.E130D	GRB2_ENST00000392564.1_Missense_Mutation_p.E130D|GRB2_ENST00000316804.5_Missense_Mutation_p.E130D|GRB2_ENST00000392563.1_Missense_Mutation_p.E89D|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000316615.5_Missense_Mutation_p.E89D			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	130	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.E130D(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	AATCCACCAGCTCATTCAAAG	0.502																																																1	Substitution - Missense(1)	ovary(1)	17											102	94	97					17																	73317818		2203	4300	6503	70829413	SO:0001583	missense	2885				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"SH2 domain containing"	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.390G>C	17.37:g.73317818C>G	ENSP00000376345:p.Glu130Asp		70829413	P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416661	0.62511	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;D;D	0.83335	1.69;1.69;1.69;-1.71;-1.71	5.95	3.91	0.45181	SH2 motif (5);	0.100153	0.64402	D	0.000002	T	0.75838	0.3904	L	0.45744	1.44	0.58432	D	0.999999	B;B	0.13145	0.007;0.0	B;B	0.21546	0.035;0.004	T	0.69899	-0.5020	10	0.30078	T	0.28	-43.3633	9.051	0.36376	0.0:0.7448:0.1225:0.1327	.	89;130	P62993-2;P62993	.;GRB2_HUMAN	D	130;130;130;89;89	ENSP00000339007:E130D;ENSP00000376345:E130D;ENSP00000376347:E130D;ENSP00000376346:E89D;ENSP00000317360:E89D	ENSP00000317360:E89D	E	-	3	2	GRB2	70829413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.591000	0.36665	1.534000	0.49203	0.655000	0.94253	GAG		0.502	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			G	73317818	C	G	73317818	3	3	267	1	0	0	0	0	1	0	0	0	6758	796	28	3	271	3	GRB2	17	73317818	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	65740694	73317818	7877392	62	15034											
GAA	2548	broad.mit.edu	37	17	78092558	78092558	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr17:78092558C>A	ENST00000302262.3	+	19	2972	c.2753C>A	c.(2752-2754)tCc>tAc	p.S918Y	GAA_ENST00000390015.3_Missense_Mutation_p.S918Y	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	918					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.S918Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CAGGTCCTCTCCAACGGTGTC	0.652																																																1	Substitution - Missense(1)	ovary(1)	17											100	93	95					17																	78092558		2203	4300	6503	75707153	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2753C>A	17.37:g.78092558C>A	ENSP00000305692:p.Ser918Tyr		75707153	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	7.365	0.625649	0.14257	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.89939	-2.59;-2.59	5.31	-0.625	0.11548	.	0.630950	0.16530	N	0.210398	T	0.78253	0.4254	L	0.36672	1.1	0.19575	N	0.999965	B	0.24426	0.103	B	0.20955	0.032	T	0.60362	-0.7278	10	0.06757	T	0.87	-35.7583	9.2051	0.37285	0.0:0.347:0.5193:0.1337	.	918	P10253	LYAG_HUMAN	Y	918	ENSP00000305692:S918Y;ENSP00000374665:S918Y	ENSP00000305692:S918Y	S	+	2	0	GAA	75707153	0.024000	0.19004	0.060000	0.19600	0.536000	0.34869	0.493000	0.22451	0.011000	0.14865	0.655000	0.94253	TCC		0.652	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			A	78092558	C	A	78092558	3	1	267	1	0	0	0	0	1	0	0	0	6147	855	30	3	2823	3	GAA	17	78092558	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	4774740	78092558	3102652	63	15035											
C17orf101	79701	broad.mit.edu	37	17	80373329	80373329	+	Silent	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr17:80373329C>T	ENST00000313056.5	-	2	400	c.249G>A	c.(247-249)ggG>ggA	p.G83G	Y_RNA_ENST00000364369.1_RNA|HEXDC_ENST00000337014.6_5'Flank|OGFOD3_ENST00000329197.5_Silent_p.G83G	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	83						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.G83G(1)									CGATGAATCTCCCTGCCACGA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	17											103	99	101					17																	80373329		2203	4300	6503	77966618	SO:0001819	synonymous_variant	79701			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.249G>A	17.37:g.80373329C>T			77966618	C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	ENST00000313056.5	37	CCDS11811.1																																																																																				0.602	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		T	80373329	C	T	80373329	2	4	267	1	0	0	0	0	0	0	0	1	1848	842	30	2		2	C17orf101	17	80373329	Silent	SNP	C	TCGA-24-2024-01A-02W-0722-08	2280771	80373329	821881	64	15036											
MUC16	94025	broad.mit.edu	37	19	9087663	9087663	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr19:9087663C>A	ENST00000397910.4	-	1	4355	c.4152G>T	c.(4150-4152)tgG>tgT	p.W1384C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1384	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.W1384C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGATGGTCCATGCTTTTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	19											163	164	163					19																	9087663		2186	4286	6472	8948663	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4152G>T	19.37:g.9087663C>A	ENSP00000381008:p.Trp1384Cys		8948663	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.337	-0.952593	0.02285	.	.	ENSG00000181143	ENST00000397910	T	0.03152	4.03	1.62	0.558	0.17266	.	.	.	.	.	T	0.04272	0.0118	N	0.08118	0	.	.	.	D	0.71674	0.998	P	0.61132	0.884	T	0.41342	-0.9514	8	0.87932	D	0	.	4.0026	0.09587	0.0:0.7704:0.0:0.2296	.	1384	B5ME49	.	C	1384	ENSP00000381008:W1384C	ENSP00000381008:W1384C	W	-	3	0	MUC16	8948663	0.014000	0.17966	0.011000	0.14972	0.061000	0.15899	0.147000	0.16202	0.246000	0.21394	0.305000	0.20034	TGG		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9087663	C	A	9087663	3	1	267	1	0	0	0	0	1	0	0	0	9973	856	30	3	39707	3	MUC16	19	9087663	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08		9087663	50041320	65	15037											
CCDC159	126075	broad.mit.edu	37	19	11462591	11462591	+	Silent	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr19:11462591C>T	ENST00000588790.1	+	8	879	c.432C>T	c.(430-432)ttC>ttT	p.F144F	CCDC159_ENST00000458408.1_Silent_p.F144F			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	259								p.F259F(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCAAGAAGTTCCTGTGGGAGG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19											42	47	46					19																	11462591		2068	4183	6251	11323591	SO:0001819	synonymous_variant	126075			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.432C>T	19.37:g.11462591C>T			11323591	B4DEG3|B4DWR8|B4E133|B7ZAM4	Silent	SNP	ENST00000588790.1	37	CCDS45976.1																																																																																				0.632	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		T	11462591	C	T	11462591	2	4	267	1	0	0	0	0	0	0	0	1	2791	854	30	2		2	CCDC159	19	11462591	Silent	SNP	C	TCGA-24-2024-01A-02W-0722-08	2374928	11462591	47666392	66	15038											
ARHGAP35	2909	broad.mit.edu	37	19	47424886	47424886	+	Nonsense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr19:47424886C>G	ENST00000404338.3	+	1	2954	c.2954C>G	c.(2953-2955)tCa>tGa	p.S985*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	985					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.S985*(1)									CTGCAGGATTCAGAAGAAGAT	0.507																																																1	Substitution - Nonsense(1)	ovary(1)	19											55	54	54					19																	47424886		1942	4146	6088	52116726	SO:0001587	stop_gained	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2954C>G	19.37:g.47424886C>G	ENSP00000385720:p.Ser985*		52116726	A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	41	8.731453	0.98933	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.542	18.9487	0.92632	0.0:1.0:0.0:0.0	.	.	.	.	X	985	.	ENSP00000324820:S985X	S	+	2	0	ARHGAP35	52116726	1.000000	0.71417	0.780000	0.31762	0.992000	0.81027	7.818000	0.86416	2.778000	0.95560	0.655000	0.94253	TCA		0.507	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		G	47424886	C	G	47424886	4	3	267	1	0	0	0	0	0	1	0	0	6795	838	29	3	2956	3	ARHGAP35	19	47424886	Nonsense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	35962295	47424886	11704097	67	15039											
IRF3	3661	broad.mit.edu	37	19	50166630	50166630	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr19:50166630G>A	ENST00000597198.1	-	3	688	c.307C>T	c.(307-309)Cca>Tca	p.P103S	BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000599680.1_5'Flank|BCL2L12_ENST00000246784.3_5'Flank|IRF3_ENST00000377139.3_Missense_Mutation_p.P103S|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000600911.1_Missense_Mutation_p.P103S|IRF3_ENST00000309877.7_Missense_Mutation_p.P103S|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.P103S|IRF3_ENST00000599223.1_Missense_Mutation_p.P103S|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000377135.4_Missense_Mutation_p.P103S|IRF3_ENST00000600022.1_5'UTR|BCL2L12_ENST00000246785.3_5'Flank			Q14653	IRF3_HUMAN	interferon regulatory factor 3	103					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.P103S(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		ATTTTATGTGGGTCGTGAGGG	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											79	74	76					19																	50166630		2203	4300	6503	54858442	SO:0001583	missense	3661				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.307C>T	19.37:g.50166630G>A	ENSP00000469113:p.Pro103Ser		54858442	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536801	0.65085	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.98280	-4.84;-4.84;-4.84	5.02	3.97	0.46021	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99001	0.9659	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.996;0.996;0.994;0.938	D	0.99593	1.0976	10	0.87932	D	0	-24.8414	13.4745	0.61301	0.0:0.1586:0.8414:0.0	.	103;103;103;103;103	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	S	103	ENSP00000366344:P103S;ENSP00000310127:P103S;ENSP00000366339:P103S	ENSP00000310127:P103S	P	-	1	0	IRF3	54858442	1.000000	0.71417	0.157000	0.22605	0.580000	0.36256	5.665000	0.68052	1.229000	0.43630	0.655000	0.94253	CCA		0.577	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		A	50166630	G	A	50166630	3	1	267	1	0	0	0	0	1	0	0	0	7831	1232	43	2	1000	2	IRF3	19	50166630	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	2741744	50166630	8962353	68	15040											
AP2A1	160	broad.mit.edu	37	19	50285817	50285817	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr19:50285817C>G	ENST00000359032.5	+	4	309	c.309C>G	c.(307-309)aaC>aaG	p.N103K	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000354293.5_Missense_Mutation_p.N103K	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	103					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.N103K(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCTGGTGAACTCGAACTCGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											55	58	57					19																	50285817		2158	4260	6418	54977629	SO:0001583	missense	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.309C>G	19.37:g.50285817C>G	ENSP00000351926:p.Asn103Lys		54977629	Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731337	0.89390	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.34472	1.36;1.36	5.54	5.54	0.83059	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.989	T	0.60845	-0.7182	10	0.44086	T	0.13	.	18.2458	0.89985	0.0:1.0:0.0:0.0	.	103;103	O95782-2;O95782	.;AP2A1_HUMAN	K	103	ENSP00000346246:N103K;ENSP00000351926:N103K	ENSP00000346246:N103K	N	+	3	2	AP2A1	54977629	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.743000	0.47442	2.602000	0.87976	0.557000	0.71058	AAC		0.592	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			G	50285817	C	G	50285817	3	3	267	1	0	0	0	0	1	0	0	0	739	564	20	3	323	3	AP2A1	19	50285817	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08	119187	50285817	8843166	69	15041											
SIGLEC12	89858	broad.mit.edu	37	19	52001419	52001419	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr19:52001419G>C	ENST00000291707.3	-	5	1313	c.1258C>G	c.(1258-1260)Ctg>Gtg	p.L420V	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.L302V	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	420	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.L420V(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAGGGGCTCAGGGTCAGGCTC	0.627																																																1	Substitution - Missense(1)	ovary(1)	19											49	47	48					19																	52001419		2203	4300	6503	56693231	SO:0001583	missense	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1258C>G	19.37:g.52001419G>C	ENSP00000291707:p.Leu420Val		56693231	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	11.07	1.529778	0.27387	.	.	ENSG00000254521	ENST00000291707	T	0.15487	2.42	1.39	1.39	0.22231	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.30051	U	0.010533	T	0.29491	0.0735	L	0.60012	1.86	0.09310	N	1	D;P	0.65815	0.995;0.918	D;P	0.73380	0.98;0.775	T	0.01819	-1.1267	10	0.41790	T	0.15	.	6.2185	0.20667	0.0:0.0:1.0:0.0	.	420;302	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	V	420	ENSP00000291707:L420V	ENSP00000291707:L420V	L	-	1	2	SIGLEC12	56693231	0.000000	0.05858	0.055000	0.19348	0.119000	0.20118	0.258000	0.18387	1.076000	0.40961	0.393000	0.25936	CTG		0.627	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		C	52001419	G	C	52001419	3	2	267	1	0	0	0	0	1	0	0	0	14311	991	35	3	545	3	SIGLEC12	19	52001419	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	1715602	52001419	7127564	70	15042											
MC3R	4159	broad.mit.edu	37	20	54824097	54824097	+	Silent	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr20:54824097C>T	ENST00000243911.2	+	1	310	c.198C>T	c.(196-198)aaC>aaT	p.N66N		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	66					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.N103N(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGGTCAGGAACGGCAACCTGC	0.562																																																2	Substitution - coding silent(2)	ovary(1)|kidney(1)	20											90	72	79					20																	54824097		2203	4300	6503	54257504	SO:0001819	synonymous_variant	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.198C>T	20.37:g.54824097C>T			54257504	Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	CCDS13449.2																																																																																				0.562	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			T	54824097	C	T	54824097	2	4	267	1	0	0	0	0	0	0	0	1	9365	535	19	1		1	MC3R	20	54824097	Silent	SNP	C	TCGA-24-2024-01A-02W-0722-08		54824097	8201423	71	15043											
NCAM2	4685	broad.mit.edu	37	21	22841054	22841054	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr21:22841054C>A	ENST00000400546.1	+	14	2095	c.1846C>A	c.(1846-1848)Cag>Aag	p.Q616K	NCAM2_ENST00000284894.7_Missense_Mutation_p.Q474K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	616	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q616K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CATCACCAAACAGGACGATGG	0.373																																																1	Substitution - Missense(1)	ovary(1)	21											119	115	116					21																	22841054		1871	4092	5963	21762925	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1846C>A	21.37:g.22841054C>A	ENSP00000383392:p.Gln616Lys		21762925	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486883	0.63962	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.53206	0.63;0.63	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051969	0.85682	D	0.000000	T	0.60894	0.2304	L	0.37630	1.12	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.69824	0.966;0.966	T	0.60352	-0.7280	10	0.56958	D	0.05	-11.128	18.5071	0.90901	0.0:1.0:0.0:0.0	.	474;616	B7Z5K2;O15394	.;NCAM2_HUMAN	K	616;474	ENSP00000383392:Q616K;ENSP00000284894:Q474K	ENSP00000284894:Q474K	Q	+	1	0	NCAM2	21762925	1.000000	0.71417	0.996000	0.52242	0.018000	0.09664	6.971000	0.76105	2.716000	0.92895	0.655000	0.94253	CAG		0.373	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		A	22841054	C	A	22841054	3	1	267	1	0	0	0	0	1	0	0	0	10203	479	17	3	1900	3	NCAM2	21	22841054	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08		22841054	25288841	72	15044											
COL6A2	1292	broad.mit.edu	37	21	47545812	47545812	+	Missense_Mutation	SNP	G	G	C	rs377376395		TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr21:47545812G>C	ENST00000300527.4	+	26	2187	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	COL6A2_ENST00000357838.4_Missense_Mutation_p.E695Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.E695Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.E695Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.E695Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	695	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.E695Q(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAAGAACCTCGAGTGGATTGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	21											74	67	70					21																	47545812		2203	4300	6503	46370240	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2083G>C	21.37:g.47545812G>C	ENSP00000300527:p.Glu695Gln		46370240	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990794	0.54041	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	4.21	4.21	0.49690	von Willebrand factor, type A (3);	0.052830	0.64402	D	0.000001	T	0.77685	0.4167	N	0.17838	0.53	0.80722	D	1	P;D;D	0.76494	0.932;0.999;0.997	P;D;D	0.75484	0.703;0.986;0.954	T	0.72394	-0.4307	10	0.09590	T	0.72	-24.9483	16.5536	0.84479	0.0:0.0:1.0:0.0	.	695;695;695	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	Q	695	ENSP00000300527:E695Q;ENSP00000350497:E695Q;ENSP00000312529:E695Q;ENSP00000387115:E695Q;ENSP00000380870:E695Q	ENSP00000300527:E695Q	E	+	1	0	COL6A2	46370240	1.000000	0.71417	0.994000	0.49952	0.776000	0.43924	7.742000	0.85008	1.889000	0.54706	0.491000	0.48974	GAG		0.607	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			C	47545812	G	C	47545812	3	2	267	1	0	0	0	0	1	0	0	0	3700	1059	37	3	2181	3	COL6A2	21	47545812	Missense_Mutation	SNP	G	TCGA-24-2024-01A-02W-0722-08	24704758	47545812	584083	73	15045											
SF3A1	10291	broad.mit.edu	37	22	30731718	30731718	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr22:30731718C>A	ENST00000215793.8	-	14	2285	c.2131G>T	c.(2131-2133)Gtg>Ttg	p.V711L	SF3A1_ENST00000439242.1_Missense_Mutation_p.V646L	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	711	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V711L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						ATGTTGGGCACCTGGACTTTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	22											214	156	175					22																	30731718		2203	4300	6503	29061718	SO:0001583	missense	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.2131G>T	22.37:g.30731718C>A	ENSP00000215793:p.Val711Leu		29061718	E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317246	0.81469	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.35236	1.32;1.32	5.12	5.12	0.69794	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	L	0.46157	1.445	0.80722	D	1	B	0.28880	0.226	P	0.48114	0.567	T	0.42799	-0.9430	10	0.33141	T	0.24	-25.925	18.7515	0.91818	0.0:1.0:0.0:0.0	.	711	Q15459	SF3A1_HUMAN	L	646;711;608	ENSP00000390336:V646L;ENSP00000215793:V711L	ENSP00000215793:V711L	V	-	1	0	SF3A1	29061718	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.320000	0.79064	2.667000	0.90743	0.655000	0.94253	GTG		0.537	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		A	30731718	C	A	30731718	3	1	267	1	0	0	0	0	1	0	0	0	14149	507	18	3	262	3	SF3A1	22	30731718	Missense_Mutation	SNP	C	TCGA-24-2024-01A-02W-0722-08		30731718	20572848	74	15046											
TUBGCP6	85378	broad.mit.edu	37	22	50659452	50659452	+	Silent	SNP	G	G	A	rs368660390	byFrequency	TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chr22:50659452G>A	ENST00000248846.5	-	16	3440	c.3336C>T	c.(3334-3336)aaC>aaT	p.N1112N	TUBGCP6_ENST00000439308.2_Silent_p.N1112N|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1112	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.N1112N(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGATGCTGGCGTTGGACACAT	0.607													G|||	2	0.000399361	0	0	5008	,	,		23973	0.002		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	22						A		0,4406		0,0,2203	183	179	181		3336	-9.9	0	22		181	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1112/1820	50659452	2,13004	2203	4300	6503	49001579	SO:0001819	synonymous_variant	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3336C>T	22.37:g.50659452G>A			49001579	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1																																																																																				0.607	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		A	50659452	G	A	50659452	2	1	267	1	0	0	0	0	0	0	0	1	16770	1136	40	1		1	TUBGCP6	22	50659452	Silent	SNP	G	TCGA-24-2024-01A-02W-0722-08	19927734	50659452	645114	75	15047											
GPR82	27197	broad.mit.edu	37	X	41586609	41586609	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chrX:41586609A>C	ENST00000302548.4	+	3	570	c.330A>C	c.(328-330)ttA>ttC	p.L110F	CASK_ENST00000378158.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L110F(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						TCTTAATTTTAAGTTGGATTG	0.383																																																2	Substitution - Missense(2)	ovary(2)	X											62	58	59					X																	41586609		2203	4300	6503	41471553	SO:0001583	missense	27197			AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"GPCR / Class A : Orphans"	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.330A>C	X.37:g.41586609A>C	ENSP00000303549:p.Leu110Phe		41471553	Q5VT13	Missense_Mutation	SNP	ENST00000302548.4	37	CCDS14259.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787659	0.49997	.	.	ENSG00000171657	ENST00000302548	T	0.81415	-1.49	5.55	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000337	D	0.86062	0.5843	M	0.68593	2.085	0.37142	D	0.901749	D	0.89917	1.0	D	0.91635	0.999	D	0.85660	0.1288	10	0.87932	D	0	-9.0894	7.1889	0.25814	0.7411:0.0:0.2589:0.0	.	110	Q96P67	GPR82_HUMAN	F	110	ENSP00000303549:L110F	ENSP00000303549:L110F	L	+	3	2	GPR82	41471553	0.985000	0.35326	0.992000	0.48379	0.966000	0.64601	0.919000	0.28692	0.254000	0.21573	0.486000	0.48141	TTA		0.383	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817		C	41586609	A	C	41586609	3	2	267	1	0	0	0	0	1	0	0	0	6712	359	13	5	332	5	GPR82	23	41586609	Missense_Mutation	SNP	A	TCGA-24-2024-01A-02W-0722-08		41586609	113683951	76	15048											
GSPT2	23708	broad.mit.edu	37	X	51486770	51486770	+	Silent	SNP	C	C	T			TCGA-24-2024-01A-02W-0722-08	TCGA-24-2024-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ced8cded-2bdb-47b7-b9d2-05288828d845	2133afa3-7338-48f6-8775-ccde73fc6dd1	g.chrX:51486770C>T	ENST00000340438.4	+	1	290	c.48C>T	c.(46-48)gaC>gaT	p.D16D		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	16					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D16D(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATTGCTGGGACCAGGTGGACA	0.682																																																1	Substitution - coding silent(1)	ovary(1)	X											23	26	25					X																	51486770		2202	4288	6490	51503510	SO:0001819	synonymous_variant	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.48C>T	X.37:g.51486770C>T			51503510	Q9H909|Q9NVY0|Q9NY44	Silent	SNP	ENST00000340438.4	37	CCDS14336.1																																																																																				0.682	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			T	51486770	C	T	51486770	2	4	267	1	0	0	0	0	0	0	0	1	6827	506	18	2		2	GSPT2	23	51486770	Silent	SNP	C	TCGA-24-2024-01A-02W-0722-08	9900161	51486770	103783790	77	15049											
RPS6KA1	6195	broad.mit.edu	37	1	26885427	26885427	+	Splice_Site	SNP	A	A	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr1:26885427A>G	ENST00000374168.2	+	14	1368	c.1214A>G	c.(1213-1215)cAg>cGg	p.Q405R	RPS6KA1_ENST00000530003.1_Splice_Site_p.Q389R|RPS6KA1_ENST00000374162.2_Splice_Site_p.Q313R|RPS6KA1_ENST00000374166.4_Splice_Site_p.Q394R|RPS6KA1_ENST00000531382.1_Splice_Site_p.Q414R|RPS6KA1_ENST00000526792.1_Splice_Site_p.Q313R	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	405					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.Q414R(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCGGTGGTACAGGTGAGGGGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											23	26	25					1																	26885427		2202	4296	6498	26758014	SO:0001630	splice_region_variant	6195			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1215+1A>G	1.37:g.26885427A>G			26758014	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.691646	0.30052	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.63744	1.14;1.14;1.14;1.14;1.14;1.14;-0.06	5.89	5.89	0.94794	Protein kinase-like domain (1);	0.106561	0.64402	D	0.000003	T	0.53094	0.1775	N	0.24115	0.695	0.80722	D	1	B;B;B	0.33549	0.417;0.122;0.075	B;B;B	0.37780	0.258;0.059;0.027	T	0.56013	-0.8049	10	0.49607	T	0.09	.	14.8869	0.70575	1.0:0.0:0.0:0.0	.	389;414;405	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	R	405;394;313;313;389;125;414;63	ENSP00000363283:Q405R;ENSP00000363281:Q394R;ENSP00000431651:Q313R;ENSP00000363277:Q313R;ENSP00000432281:Q389R;ENSP00000435412:Q414R;ENSP00000383967:Q63R	ENSP00000363277:Q313R	Q	+	2	0	RPS6KA1	26758014	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	8.397000	0.90193	2.254000	0.74563	0.533000	0.62120	CAG		0.607	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953	Missense_Mutation	G	26885427	A	G	26885427	5	3	268	1	0	0	0	0	0	0	1	0	13653	202	7	4	1407	4	RPS6KA1	1	26885427	Splice_Site	SNP	A	TCGA-24-2030-01A-01W-0722-08		26885427	222365194	1	15050											
GJB4	127534	broad.mit.edu	37	1	35227197	35227197	+	Silent	SNP	G	G	A	rs146404415		TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr1:35227197G>A	ENST00000339480.1	+	2	712	c.342G>A	c.(340-342)ccG>ccA	p.P114P	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	114					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.P114P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCAATGCCCCGTCCCTGTACG	0.617													g|||	1	0.000199681	0	0	5008	,	,		21908	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1						A		0,4406		0,0,2203	96	70	79		342	-7.1	0	1	dbSNP_134	79	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GJB4	NM_153212.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		114/267	35227197	4,13002	2203	4300	6503	34999784	SO:0001819	synonymous_variant	127534				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.342G>A	1.37:g.35227197G>A			34999784	B3KQ82	Silent	SNP	ENST00000339480.1	37	CCDS383.1																																																																																				0.617	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		A	35227197	G	A	35227197	2	1	268	1	0	0	0	0	0	0	0	1	6410	1132	40	1		1	GJB4	1	35227197	Silent	SNP	G	TCGA-24-2030-01A-01W-0722-08	8341770	35227197	214023424	2	15051											
ZNF643	65243	broad.mit.edu	37	1	40929247	40929247	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr1:40929247A>G	ENST00000411995.2	+	6	1966	c.1591A>G	c.(1591-1593)Agc>Ggc	p.S531G	ZFP69B_ENST00000361584.3_Missense_Mutation_p.S429G|ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	531					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.S429G(1)									AAATACCTTCAGCAATGTTGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	1											36	39	38					1																	40929247		2186	4269	6455	40701834	SO:0001583	missense	65243			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1591A>G	1.37:g.40929247A>G	ENSP00000399664:p.Ser531Gly		40701834	Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	12.18	1.860882	0.32884	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.09073	3.48;3.02	3.01	0.709	0.18150	.	.	.	.	.	T	0.04092	0.0114	N	0.17345	0.48	0.09310	N	1	B	0.29716	0.255	B	0.26614	0.071	T	0.43572	-0.9383	9	0.26408	T	0.33	.	2.9989	0.06007	0.5084:0.2316:0.26:0.0	.	531	Q9UJL9	ZN643_HUMAN	G	462;531;429	ENSP00000399664:S531G;ENSP00000354547:S429G	ENSP00000354547:S429G	S	+	1	0	ZNF643	40701834	.	.	0.005000	0.12908	0.052000	0.14988	.	.	0.133000	0.18654	0.533000	0.62120	AGC		0.348	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		G	40929247	A	G	40929247	3	3	268	1	0	0	0	0	1	0	0	0	18059	188	7	4	1609	4	ZNF643	1	40929247	Missense_Mutation	SNP	A	TCGA-24-2030-01A-01W-0722-08	5702050	40929247	208321374	3	15052											
CYP4B1	1580	broad.mit.edu	37	1	47279975	47279975	+	Silent	SNP	C	C	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr1:47279975C>G	ENST00000271153.4	+	7	903	c.867C>G	c.(865-867)ctC>ctG	p.L289L	CYP4B1_ENST00000452782.2_Silent_p.L127L|CYP4B1_ENST00000371919.4_Silent_p.L275L|CYP4B1_ENST00000371923.4_Silent_p.L290L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	289					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.L289L(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGGACATTCTCCTGGGTGCCC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1											68	69	69					1																	47279975		2203	4300	6503	47052562	SO:0001819	synonymous_variant	1580			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.867C>G	1.37:g.47279975C>G			47052562	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	CCDS542.1																																																																																				0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		G	47279975	C	G	47279975	2	3	268	1	0	0	0	0	0	0	0	1	4185	842	30	3		3	CYP4B1	1	47279975	Silent	SNP	C	TCGA-24-2030-01A-01W-0722-08	6350728	47279975	201970646	4	15053											
GNPAT	8443	broad.mit.edu	37	1	231411174	231411174	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr1:231411174T>G	ENST00000366647.4	+	14	2036	c.1867T>G	c.(1867-1869)Tta>Gta	p.L623V	GNPAT_ENST00000469332.1_3'UTR|GNPAT_ENST00000366646.3_Missense_Mutation_p.L562V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	623					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.L623V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTATGATGTATTATCTTCTGA	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											113	108	110					1																	231411174		2203	4300	6503	229477797	SO:0001583	missense	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1867T>G	1.37:g.231411174T>G	ENSP00000355607:p.Leu623Val		229477797	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453235	0.43531	.	.	ENSG00000116906	ENST00000366647;ENST00000366646	T;T	0.72615	-0.67;-0.63	5.47	-2.79	0.05841	.	0.079660	0.49305	D	0.000152	T	0.77226	0.4099	M	0.65498	2.005	0.36365	D	0.860965	D;D	0.71674	0.998;0.996	D;D	0.67548	0.952;0.95	T	0.77973	-0.2386	10	0.37606	T	0.19	.	13.0603	0.59003	0.0:0.6585:0.0:0.3415	.	562;623	B4DNM9;O15228	.;GNPAT_HUMAN	V	623;562	ENSP00000355607:L623V;ENSP00000355606:L562V	ENSP00000355606:L562V	L	+	1	2	GNPAT	229477797	0.008000	0.16893	0.008000	0.14137	0.185000	0.23345	0.042000	0.13949	-0.435000	0.07264	0.377000	0.23210	TTA		0.428	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			G	231411174	T	G	231411174	3	3	268	1	0	0	0	0	1	0	0	0	6541	1490	52	5	1921	5	GNPAT	1	231411174	Missense_Mutation	SNP	T	TCGA-24-2030-01A-01W-0722-08	184131199	231411174	17839447	5	15054											
BIRC6	57448	broad.mit.edu	37	2	32770875	32770875	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr2:32770875C>T	ENST00000421745.2	+	63	12892	c.12758C>T	c.(12757-12759)gCt>gTt	p.A4253V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4253					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A4225V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGTCTCTCTGCTTTGAGCCAC	0.393																																					Pancreas(94;175 1509 16028 18060 45422)											1	Substitution - Missense(1)	ovary(1)	2											190	156	168					2																	32770875		2203	4300	6503	32624379	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12758C>T	2.37:g.32770875C>T	ENSP00000393596:p.Ala4253Val		32624379	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386849	0.42308	.	.	ENSG00000115760	ENST00000421745	T	0.73152	-0.72	5.18	5.18	0.71444	.	0.115379	0.64402	D	0.000019	T	0.49304	0.1549	N	0.04508	-0.205	0.80722	D	1	B	0.24618	0.107	B	0.19946	0.027	T	0.48896	-0.8994	10	0.12430	T	0.62	.	18.7585	0.91840	0.0:1.0:0.0:0.0	.	4253	Q9NR09	BIRC6_HUMAN	V	4253	ENSP00000393596:A4253V	ENSP00000393596:A4253V	A	+	2	0	BIRC6	32624379	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.087000	0.71362	2.406000	0.81754	0.586000	0.80456	GCT		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32770875	C	T	32770875	3	4	268	1	0	0	0	0	1	0	0	0	1438	797	28	2	13008	2	BIRC6	2	32770875	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08		32770875	210428498	6	15055											
TMEM131	23505	broad.mit.edu	37	2	98428988	98428988	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr2:98428988C>A	ENST00000186436.5	-	17	1987	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	587						integral component of membrane (GO:0016021)		p.D474Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GATAAACCGTCTCCTATGATA	0.308																																																1	Substitution - Missense(1)	ovary(1)	2											100	91	94					2																	98428988		1820	4079	5899	97795420	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1759G>T	2.37:g.98428988C>A	ENSP00000186436:p.Asp587Tyr		97795420		Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206548	0.79127	.	.	ENSG00000075568	ENST00000186436	T	0.33216	1.42	5.14	5.14	0.70334	.	0.142496	0.64402	D	0.000006	T	0.37705	0.1013	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.53401	0.725	T	0.09271	-1.0682	10	0.59425	D	0.04	-19.0955	17.3239	0.87242	0.0:1.0:0.0:0.0	.	587	Q92545	TM131_HUMAN	Y	587	ENSP00000186436:D587Y	ENSP00000186436:D587Y	D	-	1	0	TMEM131	97795420	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.115000	0.71566	2.832000	0.97577	0.655000	0.94253	GAC		0.308	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		A	98428988	C	A	98428988	3	1	268	1	0	0	0	0	1	0	0	0	16044	913	32	3	3992	3	TMEM131	2	98428988	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08	65658113	98428988	144770385	7	15056											
GLI2	2736	broad.mit.edu	37	2	121708839	121708839	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr2:121708839G>A	ENST00000452319.1	+	4	335	c.275G>A	c.(274-276)aGc>aAc	p.S92N	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.S92N|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2									p.S92N(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCAGCGGCAGCCCTGTCATC	0.637																																																1	Substitution - Missense(1)	ovary(1)	2											99	111	107					2																	121708839		2203	4300	6503	121425309	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.275G>A	2.37:g.121708839G>A	ENSP00000390436:p.Ser92Asn		121425309		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962291	0.53400	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.45276	0.9;0.9	5.28	5.28	0.74379	.	0.046510	0.85682	D	0.000000	T	0.67720	0.2923	M	0.78637	2.42	0.80722	D	1	D;D;P	0.89917	1.0;0.976;0.919	D;P;P	0.91635	0.999;0.761;0.45	T	0.70938	-0.4736	10	0.87932	D	0	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	92;92;92	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	N	92	ENSP00000390436:S92N;ENSP00000354586:S92N	ENSP00000354586:S92N	S	+	2	0	GLI2	121425309	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.558000	0.73942	2.751000	0.94390	0.555000	0.69702	AGC		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		A	121708839	G	A	121708839	3	1	268	1	0	0	0	0	1	0	0	0	6438	971	34	2	285	2	GLI2	2	121708839	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08	23279851	121708839	121490534	8	15057											
FBXO36	130888	broad.mit.edu	37	2	230875525	230875525	+	Silent	SNP	C	C	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr2:230875525C>A	ENST00000283946.3	+	4	510	c.492C>A	c.(490-492)acC>acA	p.T164T	FBXO36_ENST00000373652.3_Silent_p.T133T|FBXO36_ENST00000409992.1_Silent_p.T144T	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	164								p.T164T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGTTCTTCACCAACAAGCTCC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	2											47	44	45					2																	230875525		2203	4300	6503	230583769	SO:0001819	synonymous_variant	130888			BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"F-boxes /  "other""	27020	protein-coding gene	gene with protein product		609105	"F-box only protein 36"			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.492C>A	2.37:g.230875525C>A			230583769	B3KVQ6|Q53TE6|Q8WWD4	Silent	SNP	ENST00000283946.3	37	CCDS2472.1																																																																																				0.532	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		A	230875525	C	A	230875525	2	1	268	1	0	0	0	0	0	0	0	1	5745	581	21	3		3	FBXO36	2	230875525	Silent	SNP	C	TCGA-24-2030-01A-01W-0722-08	109166686	230875525	12323848	9	15058											
C3orf63	23272	broad.mit.edu	37	3	56667289	56667289	+	Missense_Mutation	SNP	A	A	G	rs369681222		TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr3:56667289A>G	ENST00000493960.2	-	18	3540	c.3530T>C	c.(3529-3531)aTt>aCt	p.I1177T	FAM208A_ENST00000431842.2_Missense_Mutation_p.I740T|FAM208A_ENST00000355628.5_Missense_Mutation_p.I1116T	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1177							poly(A) RNA binding (GO:0044822)	p.I740T(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						ACCAGGTACAATATGATCAGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	3						A	THR/ILE,THR/ILE	1,4405	2.1+/-5.4	0,1,2202	162	156	158		3530,2219	1.8	1	3		158	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	FAM208A	NM_001112736.1,NM_015224.3	89,89	0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231	benign,benign	1177/1513,740/1234	56667289	3,13003	2203	4300	6503	56642329	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3530T>C	3.37:g.56667289A>G	ENSP00000417509:p.Ile1177Thr		56642329	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	A	0.607	-0.826682	0.02734	2.27E-4	2.33E-4	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.09163	3.01;3.17;3.2	5.62	1.76	0.24704	.	0.331493	0.29830	N	0.011085	T	0.01661	0.0053	N	0.00186	-1.895	0.20403	N	0.999904	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.44483	-0.9325	10	0.02654	T	1	-0.4561	5.4953	0.16799	0.1979:0.0:0.5605:0.2416	.	1177;1116;740;1177	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	T	740;1177;1116	ENSP00000399410:I740T;ENSP00000417509:I1177T;ENSP00000347845:I1116T	ENSP00000347845:I1116T	I	-	2	0	C3orf63	56642329	0.988000	0.35896	0.997000	0.53966	0.938000	0.57974	1.256000	0.32921	0.110000	0.17919	-0.208000	0.12717	ATT		0.423	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		G	56667289	A	G	56667289	3	3	268	1	0	0	0	0	1	0	0	0	2239	101	4	4	1570	4	C3orf63	3	56667289	Missense_Mutation	SNP	A	TCGA-24-2030-01A-01W-0722-08		56667289	141355141	10	15059											
ARHGEF3	50650	broad.mit.edu	37	3	56771276	56771276	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr3:56771276G>C	ENST00000296315.3	-	8	1146	c.978C>G	c.(976-978)gaC>gaG	p.D326E	ARHGEF3_ENST00000413728.2_Missense_Mutation_p.D332E|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D326E|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D358E|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D332E|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D297E	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	326	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D326E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CGATCAGGGAGTCTTTCTGGC	0.463																																																1	Substitution - Missense(1)	ovary(1)	3											91	88	89					3																	56771276		2203	4300	6503	56746316	SO:0001583	missense	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.978C>G	3.37:g.56771276G>C	ENSP00000296315:p.Asp326Glu		56746316	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360496	0.41801	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.93	3.16	0.36331	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.093762	0.64402	D	0.000001	T	0.17492	0.0420	L	0.34521	1.04	0.45762	D	0.998659	B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.003;0.001;0.003	T	0.07809	-1.0753	10	0.06099	T	0.92	-5.3143	7.8142	0.29249	0.3932:0.0:0.6068:0.0	.	332;297;124;326;358;326;332	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	E	326;358;332;332;297;326	ENSP00000296315:D326E;ENSP00000341071:D358E;ENSP00000410922:D332E;ENSP00000420420:D332E;ENSP00000418826:D297E;ENSP00000417986:D326E	ENSP00000296315:D326E	D	-	3	2	ARHGEF3	56746316	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.521000	0.45563	0.839000	0.34971	0.555000	0.69702	GAC		0.463	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		C	56771276	G	C	56771276	3	2	268	1	0	0	0	0	1	0	0	0	904	1020	36	3	614	3	ARHGEF3	3	56771276	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08	103987	56771276	141251154	11	15060											
PRICKLE2	166336	broad.mit.edu	37	3	64085270	64085270	+	Silent	SNP	G	G	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr3:64085270G>T	ENST00000295902.6	-	8	2577	c.1992C>A	c.(1990-1992)ccC>ccA	p.P664P	PRICKLE2_ENST00000564377.1_Silent_p.P720P|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	664					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P664P(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTTCACTCATGGGCTGGATCC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	3											68	64	66					3																	64085270		2203	4300	6503	64060310	SO:0001819	synonymous_variant	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1992C>A	3.37:g.64085270G>T			64060310	Q0VF44	Silent	SNP	ENST00000295902.6	37	CCDS2902.1																																																																																				0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		T	64085270	G	T	64085270	2	4	268	1	0	0	0	0	0	0	0	1	12490	1335	47	3		3	PRICKLE2	3	64085270	Silent	SNP	G	TCGA-24-2030-01A-01W-0722-08	7313994	64085270	133937160	12	15061											
GMPS	8833	broad.mit.edu	37	3	155633844	155633844	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr3:155633844C>G	ENST00000496455.2	+	9	1410	c.1075C>G	c.(1075-1077)Cca>Gca	p.P359A	GMPS_ENST00000295920.7_Missense_Mutation_p.P260A	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	359	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.P359A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GAACTTGAAACCAGAGGAGGT	0.373			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	1	Substitution - Missense(1)	ovary(1)	3											86	79	81					3																	155633844		1837	4105	5942	157116538	SO:0001583	missense	8833			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1075C>G	3.37:g.155633844C>G	ENSP00000419851:p.Pro359Ala		157116538	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.036001	0.35893	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.36	4.49	0.54785	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.118784	0.64402	D	0.000019	T	0.57080	0.2029	L	0.55481	1.735	0.80722	D	1	B;B	0.19817	0.029;0.039	B;B	0.17433	0.018;0.008	T	0.53365	-0.8449	9	0.32370	T	0.25	-3.832	14.0575	0.64779	0.0:0.9271:0.0:0.0729	.	260;359	F8W720;P49915	.;GUAA_HUMAN	A	359;260;308;359	.	ENSP00000295920:P260A	P	+	1	0	GMPS	157116538	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.545000	0.67237	1.260000	0.44134	-0.275000	0.10095	CCA		0.373	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			G	155633844	C	G	155633844	3	3	268	1	0	0	0	0	1	0	0	0	6498	507	18	3	1109	3	GMPS	3	155633844	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08	91548574	155633844	42388586	13	15062											
ENAM	10117	broad.mit.edu	37	4	71508194	71508194	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr4:71508194A>G	ENST00000396073.3	+	9	1332	c.1051A>G	c.(1051-1053)Aga>Gga	p.R351G	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	351					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.R351G(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GCCTTTTTACAGAAATCAACA	0.413																																																1	Substitution - Missense(1)	ovary(1)	4											97	99	98					4																	71508194		2203	4300	6503	71727058	SO:0001583	missense	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1051A>G	4.37:g.71508194A>G	ENSP00000379383:p.Arg351Gly		71727058	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471566	0.26423	.	.	ENSG00000132464	ENST00000396073	T	0.35789	1.29	5.83	0.344	0.16006	.	0.138317	0.32753	N	0.005682	T	0.50718	0.1632	M	0.70787	2.145	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	T	0.39057	-0.9632	10	0.33141	T	0.24	-13.6848	9.439	0.38657	0.621:0.2604:0.1186:0.0	.	351	Q9NRM1	ENAM_HUMAN	G	351	ENSP00000379383:R351G	ENSP00000379383:R351G	R	+	1	2	ENAM	71727058	0.935000	0.31712	0.962000	0.40283	0.003000	0.03518	-0.126000	0.10563	0.288000	0.22398	-0.331000	0.08364	AGA		0.413	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		G	71508194	A	G	71508194	3	3	268	1	0	0	0	0	1	0	0	0	5112	180	7	4	1081	4	ENAM	4	71508194	Missense_Mutation	SNP	A	TCGA-24-2030-01A-01W-0722-08		71508194	119646082	14	15063											
ZNF622	90441	broad.mit.edu	37	5	16451862	16451862	+	Silent	SNP	C	C	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr5:16451862C>T	ENST00000308683.2	-	6	1464	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	446					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q446Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTTGGACATACTGCATGTCTC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	5											187	165	173					5																	16451862		2203	4300	6503	16504862	SO:0001819	synonymous_variant	90441			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1338G>A	5.37:g.16451862C>T			16504862		Silent	SNP	ENST00000308683.2	37	CCDS3886.1																																																																																				0.428	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		T	16451862	C	T	16451862	2	4	268	1	0	0	0	0	0	0	0	1	18046	564	20	2		2	ZNF622	5	16451862	Silent	SNP	C	TCGA-24-2030-01A-01W-0722-08		16451862	164463398	15	15064											
SERINC5	256987	broad.mit.edu	37	5	79446708	79446708	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr5:79446708C>A	ENST00000507668.2	-	9	1200	c.1050G>T	c.(1048-1050)ttG>ttT	p.L350F	SERINC5_ENST00000512972.2_Missense_Mutation_p.L350F|SERINC5_ENST00000509193.1_Missense_Mutation_p.L348F|SERINC5_ENST00000512721.1_Missense_Mutation_p.L350F	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	350					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)	p.L349F(1)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AACTTACCTCCAATTCAGGAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	5											119	119	119					5																	79446708		2025	4180	6205	79482464	SO:0001583	missense	256987			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"chromosome 5 open reading frame 12"	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.1050G>T	5.37:g.79446708C>A	ENSP00000426237:p.Leu350Phe		79482464	B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	7.964	0.747649	0.15710	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.92	0.704	0.18121	.	0.769559	0.12016	N	0.507413	T	0.05318	0.0141	N	0.11284	0.12	0.32343	N	0.559548	B;B;B;B	0.20368	0.016;0.002;0.044;0.016	B;B;B;B	0.23419	0.027;0.003;0.046;0.027	T	0.43491	-0.9388	10	0.07325	T	0.83	.	3.7547	0.08581	0.1768:0.4406:0.0:0.3826	.	350;350;348;350	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	F	350;349;348;350;350	ENSP00000426237:L350F;ENSP00000426134:L348F;ENSP00000421665:L350F;ENSP00000420863:L350F	ENSP00000327542:L349F	L	-	3	2	SERINC5	79482464	0.568000	0.26635	0.833000	0.33012	0.893000	0.52053	-0.278000	0.08490	0.187000	0.20147	0.643000	0.83706	TTG		0.448	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		A	79446708	C	A	79446708	3	1	268	1	0	0	0	0	1	0	0	0	14086	593	21	3	389	3	SERINC5	5	79446708	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08	62994846	79446708	101468552	16	15065											
RASGRF2	5924	broad.mit.edu	37	5	80409390	80409390	+	Missense_Mutation	SNP	C	C	A	rs189697457		TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr5:80409390C>A	ENST00000265080.4	+	15	2188	c.2121C>A	c.(2119-2121)aaC>aaA	p.N707K	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	707	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N707K(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCAGCCAGAACAACAGAGGTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											98	99	99					5																	80409390		2203	4300	6503	80445146	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2121C>A	5.37:g.80409390C>A	ENSP00000265080:p.Asn707Lys		80445146	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669649	0.47677	.	.	ENSG00000113319	ENST00000265080	T	0.49720	0.77	5.31	2.58	0.30949	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.272201	0.41823	D	0.000817	T	0.44008	0.1273	L	0.57536	1.79	0.41127	D	0.985859	B	0.21225	0.053	B	0.30716	0.119	T	0.32188	-0.9916	10	0.33940	T	0.23	.	9.8584	0.41098	0.0:0.777:0.0:0.223	.	707	O14827	RGRF2_HUMAN	K	707	ENSP00000265080:N707K	ENSP00000265080:N707K	N	+	3	2	RASGRF2	80445146	0.245000	0.23899	0.980000	0.43619	0.994000	0.84299	0.119000	0.15626	0.644000	0.30656	0.650000	0.86243	AAC		0.458	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		A	80409390	C	A	80409390	3	1	268	1	0	0	0	0	1	0	0	0	13076	477	17	3	2179	3	RASGRF2	5	80409390	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08	962682	80409390	100505870	17	15066											
RIOK1	83732	broad.mit.edu	37	6	7395357	7395357	+	Silent	SNP	T	T	C			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr6:7395357T>C	ENST00000379834.2	+	3	855	c.348T>C	c.(346-348)ttT>ttC	p.F116F		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	116							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F109F(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TACGGAAATTTGAGAATAAAA	0.383																																																1	Substitution - coding silent(1)	ovary(1)	6											42	40	41					6																	7395357		2203	4300	6503	7340356	SO:0001819	synonymous_variant	83732			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.348T>C	6.37:g.7395357T>C			7340356	B2RB28|Q8NDC8|Q96NV9	Silent	SNP	ENST00000379834.2	37	CCDS4500.1																																																																																				0.383	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		C	7395357	T	C	7395357	2	2	268	1	0	0	0	0	0	0	0	1	13380	1809	63	4		4	RIOK1	6	7395357	Silent	SNP	T	TCGA-24-2030-01A-01W-0722-08		7395357	163719710	18	15067											
VEGFA	7422	broad.mit.edu	37	6	43746215	43746215	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr6:43746215C>T	ENST00000523873.1	+	4	372	c.334C>T	c.(334-336)Cac>Tac	p.H112Y	VEGFA_ENST00000372064.4_Missense_Mutation_p.H292Y|VEGFA_ENST00000518824.1_Missense_Mutation_p.H112Y|VEGFA_ENST00000520948.1_Missense_Mutation_p.H112Y|VEGFA_ENST00000417285.2_Missense_Mutation_p.H292Y|VEGFA_ENST00000425836.2_Missense_Mutation_p.H292Y|VEGFA_ENST00000523950.1_Missense_Mutation_p.H112Y|VEGFA_ENST00000324450.6_Missense_Mutation_p.H292Y|VEGFA_ENST00000372077.4_Missense_Mutation_p.H112Y|VEGFA_ENST00000482630.2_Missense_Mutation_p.H292Y|VEGFA_ENST00000457104.2_Missense_Mutation_p.H112Y|VEGFA_ENST00000372067.3_Missense_Mutation_p.H292Y|VEGFA_ENST00000518689.1_Missense_Mutation_p.H112Y|VEGFA_ENST00000413642.3_Missense_Mutation_p.H292Y|VEGFA_ENST00000230480.6_Missense_Mutation_p.H84Y|VEGFA_ENST00000372055.4_Missense_Mutation_p.H292Y|VEGFA_ENST00000523125.1_Missense_Mutation_p.H112Y			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	112					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)	p.H292Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	GATCAAACCTCACCAAGGCCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	6											128	100	110					6																	43746215		2203	4300	6503	43854193	SO:0001583	missense	7422			AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.334C>T	6.37:g.43746215C>T	ENSP00000430479:p.His112Tyr		43854193	B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37	CCDS55010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.38|10.38	1.334339|1.334339	0.24253|0.24253	.|.	.|.	ENSG00000112715|ENSG00000112715	ENST00000372067;ENST00000324450;ENST00000417285;ENST00000413642;ENST00000372055;ENST00000482630;ENST00000425836;ENST00000372064;ENST00000372077;ENST00000520948;ENST00000523873;ENST00000523950;ENST00000457104;ENST00000518689;ENST00000523125;ENST00000518824;ENST00000230480|ENST00000519767	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.79141|.	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Platelet-derived growth factor (PDGF) (3);|.	0.418216|.	0.28026|.	N|.	0.016885|.	T|T	0.62901|0.62901	0.2466|0.2466	L|L	0.49350|0.49350	1.555|1.555	0.47214|0.47214	D|D	0.999355|0.999355	B;B;B;P;B;D;B;B|.	0.76494|.	0.009;0.198;0.007;0.676;0.016;0.999;0.126;0.055|.	B;B;B;B;B;D;B;B|.	0.85130|.	0.018;0.159;0.019;0.421;0.028;0.997;0.07;0.072|.	T|T	0.58154|0.58154	-0.7686|-0.7686	10|5	0.09084|.	T|.	0.74|.	-17.5583|-17.5583	18.8433|18.8433	0.92194|0.92194	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	112;292;112;292;112;292;292;112|.	P15692-10;P15692-12;P15692-8;P15692-14;P15692-3;P15692-13;P15692-11;P15692|.	.;.;.;.;.;.;.;VEGFA_HUMAN|.	Y|L	292;292;292;292;292;292;292;292;112;112;112;112;112;112;112;112;84|263	ENSP00000361137:H292Y;ENSP00000317598:H292Y;ENSP00000388663:H292Y;ENSP00000389864:H292Y;ENSP00000361125:H292Y;ENSP00000421561:H292Y;ENSP00000388465:H292Y;ENSP00000361134:H292Y;ENSP00000361148:H112Y;ENSP00000428321:H112Y;ENSP00000430479:H112Y;ENSP00000429643:H112Y;ENSP00000409911:H112Y;ENSP00000430829:H112Y;ENSP00000429008:H112Y;ENSP00000430002:H112Y;ENSP00000230480:H84Y|.	ENSP00000230480:H84Y|.	H|S	+|+	1|2	0|0	VEGFA|VEGFA	43854193|43854193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.849000|2.849000	0.48286|0.48286	2.707000|2.707000	0.92482|0.92482	0.561000|0.561000	0.74099|0.74099	CAC|TCA		0.517	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		T	43746215	C	T	43746215	3	4	268	1	0	0	0	0	1	0	0	0	17150	826	29	2	888	2	VEGFA	6	43746215	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08	36350858	43746215	127368852	19	15068											
TSPAN33	340348	broad.mit.edu	37	7	128806678	128806678	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr7:128806678C>G	ENST00000289407.4	+	6	628	c.519C>G	c.(517-519)tgC>tgG	p.C173W	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	173					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.C173W(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						ATTTCAACTGCTCAGAAGACA	0.517																																																1	Substitution - Missense(1)	ovary(1)	7											280	249	260					7																	128806678		2203	4300	6503	128593914	SO:0001583	missense	340348				CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.519C>G	7.37:g.128806678C>G	ENSP00000289407:p.Cys173Trp		128593914		Missense_Mutation	SNP	ENST00000289407.4	37	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340552	0.60963	.	.	ENSG00000158457	ENST00000289407	T	0.79352	-1.26	5.68	2.66	0.31614	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87603	0.2498	10	0.87932	D	0	-26.7103	9.4641	0.38802	0.0:0.8274:0.0:0.1726	.	173	Q86UF1	TSN33_HUMAN	W	173	ENSP00000289407:C173W	ENSP00000289407:C173W	C	+	3	2	TSPAN33	128593914	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	0.836000	0.27545	0.225000	0.20959	0.655000	0.94253	TGC		0.517	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		G	128806678	C	G	128806678	3	3	268	1	0	0	0	0	1	0	0	0	16648	805	28	3	541	3	TSPAN33	7	128806678	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08		128806678	30331985	20	15069											
AGK	55750	broad.mit.edu	37	7	141315310	141315310	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr7:141315310G>A	ENST00000355413.4	+	8	723	c.463G>A	c.(463-465)Gga>Aga	p.G155R	AGK_ENST00000473247.1_Missense_Mutation_p.G127R|AGK_ENST00000535825.1_Missense_Mutation_p.G152R	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	155	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.G155R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TATCCCACTGGGAGAGACCAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	7											182	184	183					7																	141315310		2203	4300	6503	140961779	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.463G>A	7.37:g.141315310G>A	ENSP00000347581:p.Gly155Arg		140961779	Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812770	0.90707	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	D;D;D	0.91792	-2.91;-2.91;-2.91	5.2	5.2	0.72013	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99035	1.0822	10	0.87932	D	0	.	17.8583	0.88773	0.0:0.0:1.0:0.0	.	155	Q53H12	AGK_HUMAN	R	155;127;152	ENSP00000347581:G155R;ENSP00000420776:G127R;ENSP00000444349:G152R	ENSP00000347581:G155R	G	+	1	0	AGK	140961779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.392000	0.79840	2.581000	0.87130	0.591000	0.81541	GGA		0.448	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		A	141315310	G	A	141315310	3	1	268	1	0	0	0	0	1	0	0	0	383	1233	43	2	489	2	AGK	7	141315310	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08	12508632	141315310	17823353	21	15070											
CYP7A1	1581	broad.mit.edu	37	8	59404148	59404148	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr8:59404148C>G	ENST00000301645.3	-	6	1538	c.1401G>C	c.(1399-1401)ttG>ttC	p.L467F		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	467					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L467F(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTATAAGCTCCAATTCAAAAT	0.413									Neonatal Giant Cell Hepatitis																																							1	Substitution - Missense(1)	ovary(1)	8											60	62	61					8																	59404148		2203	4300	6503	59566702	SO:0001583	missense	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1401G>C	8.37:g.59404148C>G	ENSP00000301645:p.Leu467Phe		59566702	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822808	0.50739	.	.	ENSG00000167910	ENST00000301645	T	0.13089	2.62	5.87	0.128	0.14733	.	0.178708	0.64402	D	0.000018	T	0.07503	0.0189	L	0.33293	1	0.42490	D	0.992899	P	0.49783	0.928	B	0.38985	0.287	T	0.44236	-0.9341	10	0.21014	T	0.42	-5.7947	6.4972	0.22148	0.107:0.5288:0.0:0.3641	.	467	P22680	CP7A1_HUMAN	F	467	ENSP00000301645:L467F	ENSP00000301645:L467F	L	-	3	2	CYP7A1	59566702	0.857000	0.29778	0.990000	0.47175	0.720000	0.41350	0.006000	0.13152	-0.185000	0.10550	0.655000	0.94253	TTG		0.413	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		G	59404148	C	G	59404148	3	3	268	1	0	0	0	0	1	0	0	0	4196	593	21	3	117	3	CYP7A1	8	59404148	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08		59404148	86959874	22	15071											
HNF4G	3174	broad.mit.edu	37	8	76476246	76476246	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr8:76476246G>A	ENST00000354370.1	+	11	1412	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	HNF4G_ENST00000396423.2_Missense_Mutation_p.G418D			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	381					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G381D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCACCACAAGGCTCTGGGCAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	8											200	185	190					8																	76476246		2203	4300	6503	76638801	SO:0001583	missense	3174				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.1142G>A	8.37:g.76476246G>A	ENSP00000346339:p.Gly381Asp		76638801	Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.041816	0.75732	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	T;T	0.71817	-0.6;-0.6	5.72	4.83	0.62350	.	1.637000	0.03177	N	0.171608	T	0.79610	0.4475	M	0.63843	1.955	0.43191	D	0.995022	P;P	0.48998	0.918;0.918	P;P	0.47827	0.558;0.558	T	0.66069	-0.6015	10	0.72032	D	0.01	.	16.6153	0.84909	0.0:0.1301:0.8699:0.0	.	418;381	F1D8Q4;Q14541	.;HNF4G_HUMAN	D	381;418	ENSP00000346339:G381D;ENSP00000379701:G418D	ENSP00000346339:G381D	G	+	2	0	HNF4G	76638801	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.767000	0.55288	1.382000	0.46385	0.655000	0.94253	GGC		0.448	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		A	76476246	G	A	76476246	3	1	268	1	0	0	0	0	1	0	0	0	7254	1203	42	2	1291	2	HNF4G	8	76476246	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08	17072098	76476246	69887776	23	15072											
NDRG1	10397	broad.mit.edu	37	8	134260120	134260120	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr8:134260120C>T	ENST00000414097.2	-	12	1672	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.V269M|NDRG1_ENST00000354944.5_Missense_Mutation_p.V199M|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000537882.1_Missense_Mutation_p.V188M|NDRG1_ENST00000522476.1_Missense_Mutation_p.V203M|NDRG1_ENST00000518066.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	269					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.V269M(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTACATACCACGGCATCCACT	0.517			T	ERG	prostate																																		Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	1	Substitution - Missense(1)	ovary(1)	8											95	97	96					8																	134260120		2203	4300	6503	134329302	SO:0001583	missense	10397			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.805G>A	8.37:g.134260120C>T	ENSP00000404854:p.Val269Met		134329302	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506041	0.64410	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000535532;ENST00000522476	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.58	5.58	0.84498	.	0.058563	0.64402	D	0.000002	T	0.60183	0.2249	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.68364	-0.5428	10	0.87932	D	0	-40.4611	18.5557	0.91083	0.0:1.0:0.0:0.0	.	269	Q92597	NDRG1_HUMAN	M	269;199;269;188;97;203	ENSP00000319977:V269M;ENSP00000347028:V199M;ENSP00000404854:V269M;ENSP00000437443:V188M;ENSP00000427894:V203M	ENSP00000319977:V269M	V	-	1	0	NDRG1	134329302	1.000000	0.71417	0.960000	0.40013	0.066000	0.16364	7.461000	0.80834	2.640000	0.89533	0.561000	0.74099	GTG		0.517	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			T	134260120	C	T	134260120	3	4	268	1	0	0	0	0	1	0	0	0	10251	536	19	1	399	1	NDRG1	8	134260120	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08	57783874	134260120	12103902	24	15073											
DDX58	23586	broad.mit.edu	37	9	32485257	32485257	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr9:32485257G>A	ENST00000379883.2	-	10	1553	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	DDX58_ENST00000545044.1_Missense_Mutation_p.R263W|DDX58_ENST00000542096.1_Missense_Mutation_p.R395W|DDX58_ENST00000379882.1_Missense_Mutation_p.R421W|DDX58_ENST00000379868.1_Missense_Mutation_p.R263W	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	466	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.R466W(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCGCTAATCCGTGATTCCACT	0.373																																																1	Substitution - Missense(1)	ovary(1)	9											120	118	118					9																	32485257		2203	4300	6503	32475257	SO:0001583	missense	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1396C>T	9.37:g.32485257G>A	ENSP00000369213:p.Arg466Trp		32475257	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164293	0.57476	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.11604	3.28;3.29;3.19;3.15;2.76	4.95	4.02	0.46733	.	0.203371	0.33110	N	0.005273	T	0.36524	0.0970	M	0.87381	2.88	0.24928	N	0.991933	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.994;0.986;0.996	T	0.26087	-1.0113	10	0.66056	D	0.02	-7.9665	12.4751	0.55809	0.0:0.0:0.8314:0.1686	.	263;421;395;466	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	W	421;466;263;395;263	ENSP00000369212:R421W;ENSP00000369213:R466W;ENSP00000369197:R263W;ENSP00000442160:R395W;ENSP00000443055:R263W	ENSP00000369197:R263W	R	-	1	2	DDX58	32475257	0.002000	0.14202	0.789000	0.31954	0.708000	0.40852	0.302000	0.19192	1.166000	0.42689	0.655000	0.94253	CGG		0.373	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		A	32485257	G	A	32485257	3	1	268	1	0	0	0	0	1	0	0	0	4375	1144	40	1	1417	1	DDX58	9	32485257	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08		32485257	108728174	25	15074											
CNNM2	54805	broad.mit.edu	37	10	104679547	104679547	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr10:104679547G>A	ENST00000369878.4	+	1	1498	c.1310G>A	c.(1309-1311)gGg>gAg	p.G437E	CNNM2_ENST00000433628.2_Missense_Mutation_p.G437E|CNNM2_ENST00000369875.3_Missense_Mutation_p.G437E	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	437					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.G437E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATCATCCAAGGGGCGCTGGAG	0.577																																																1	Substitution - Missense(1)	ovary(1)	10											69	67	68					10																	104679547		2203	4300	6503	104669537	SO:0001583	missense	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1310G>A	10.37:g.104679547G>A	ENSP00000358894:p.Gly437Glu		104669537	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050866	0.75960	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.76709	-1.04;-1.04;-1.04	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.90638	0.7064	M	0.90977	3.165	0.80722	D	1	D;P;D	0.89917	0.997;0.874;1.0	D;P;D	0.97110	0.988;0.903;1.0	D	0.93038	0.6454	10	0.87932	D	0	.	17.8745	0.88821	0.0:0.0:1.0:0.0	.	437;437;437	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	E	437	ENSP00000392875:G437E;ENSP00000358891:G437E;ENSP00000358894:G437E	ENSP00000286899:G437E	G	+	2	0	CNNM2	104669537	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.852000	0.99516	2.187000	0.69744	0.555000	0.69702	GGG		0.577	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		A	104679547	G	A	104679547	3	1	268	1	0	0	0	0	1	0	0	0	3613	1232	43	2	1312	2	CNNM2	10	104679547	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08		104679547	30855200	26	15075											
USP15	9958	broad.mit.edu	37	12	62708592	62708592	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr12:62708592G>T	ENST00000280377.5	+	4	428	c.370G>T	c.(370-372)Gta>Tta	p.V124L	USP15_ENST00000393654.3_Missense_Mutation_p.V124L|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.V124L|USP15_ENST00000312635.6_Missense_Mutation_p.V124L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	124					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V124L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGGTATGTTTGTAAAGCACTG	0.313																																					Melanoma(181;615 2041 39364 49691 50001)											1	Substitution - Missense(1)	ovary(1)	12											240	265	256					12																	62708592		2203	4300	6503	60994859	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.370G>T	12.37:g.62708592G>T	ENSP00000280377:p.Val124Leu		60994859	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.279850|2.279850	0.40294|0.40294	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000549237|ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836;ENST00000546694	.|T;T;T	.|0.19394	.|2.16;2.16;2.15	5.6|5.6	4.7|4.7	0.59300|0.59300	.|.	.|0.070116	.|0.56097	.|D	.|0.000029	T|T	0.29256|0.29256	0.0728|0.0728	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;B	.|0.43314	.|0.702;0.803;0.395	.|B;P;B	.|0.45195	.|0.281;0.473;0.123	T|T	0.02560|0.02560	-1.1141|-1.1141	5|9	.|.	.|.	.|.	-11.7453|-11.7453	16.473|16.473	0.84119|0.84119	0.0:0.1314:0.8686:0.0|0.0:0.1314:0.8686:0.0	.|.	.|124;124;124	.|Q9Y4E8;Q9Y4E8-2;Q9H8G9	.|UBP15_HUMAN;.;.	F|L	119|124;132;124;124;124;70;3	.|ENSP00000258123:V124L;ENSP00000280377:V124L;ENSP00000377264:V124L	.|.	L|V	+|+	3|1	2|0	USP15|USP15	60994859|60994859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.374000|0.374000	0.29953|0.29953	9.837000|9.837000	0.99465|0.99465	1.334000|1.334000	0.45468|0.45468	-0.312000|-0.312000	0.09012|0.09012	TTG|GTA		0.313	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		T	62708592	G	T	62708592	3	4	268	1	0	0	0	0	1	0	0	0	17046	1377	48	3	384	3	USP15	12	62708592	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08		62708592	71143303	27	15076											
TMEM132D	121256	broad.mit.edu	37	12	129563124	129563124	+	Silent	SNP	G	G	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr12:129563124G>T	ENST00000422113.2	-	8	2396	c.2070C>A	c.(2068-2070)atC>atA	p.I690I	TMEM132D_ENST00000389441.4_Silent_p.I228I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	690					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I690I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGTGGCAAAGATGGCCCTGT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	12											127	111	117					12																	129563124		2203	4300	6503	128129077	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2070C>A	12.37:g.129563124G>T			128129077	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.582	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129563124	G	T	129563124	2	4	268	1	0	0	0	0	0	0	0	1	16047	932	33	3		3	TMEM132D	12	129563124	Silent	SNP	G	TCGA-24-2030-01A-01W-0722-08	66854532	129563124	4288771	28	15077											
ARHGEF7	8874	broad.mit.edu	37	13	111935537	111935537	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr13:111935537G>A	ENST00000375741.2	+	17	2090	c.1840G>A	c.(1840-1842)Gcg>Acg	p.A614T	ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.A593T|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.A521T|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.A511T|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.A436T|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.A358T|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.A436T|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.A436T|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.A564T|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.A436T	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	614					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A593T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAGCAAGCCCGCGCCGCTGAC	0.687																																																1	Substitution - Missense(1)	ovary(1)	13											37	35	35					13																	111935537		2184	4289	6473	110733538	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1840G>A	13.37:g.111935537G>A	ENSP00000364893:p.Ala614Thr		110733538	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988827	0.18966	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.61627	0.67;0.67;0.67;0.64;0.68;0.63;0.64;0.64;0.69;0.63;0.09	4.43	1.7	0.24286	.	0.486626	0.23074	N	0.052223	T	0.29882	0.0747	N	0.08118	0	0.38588	D	0.950346	B;B;B;B;B;B	0.20780	0.005;0.0;0.004;0.048;0.026;0.027	B;B;B;B;B;B	0.18263	0.002;0.001;0.002;0.016;0.018;0.021	T	0.05131	-1.0904	10	0.21014	T	0.42	.	5.9899	0.19454	0.5483:0.0:0.4517:0.0	.	358;511;436;564;614;593	E9PDQ5;B7Z6G2;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	T	593;614;564;521;591;436;436;436;436;511;436;358	ENSP00000325994:A593T;ENSP00000364893:A614T;ENSP00000364891:A564T;ENSP00000359657:A521T;ENSP00000418067:A436T;ENSP00000218789:A436T;ENSP00000364888:A436T;ENSP00000397068:A436T;ENSP00000364889:A511T;ENSP00000364875:A436T;ENSP00000417596:A358T	ENSP00000218789:A436T	A	+	1	0	ARHGEF7	110733538	0.759000	0.28416	0.002000	0.10522	0.935000	0.57460	1.373000	0.34272	0.434000	0.26340	0.561000	0.74099	GCG		0.687	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		A	111935537	G	A	111935537	3	1	268	1	0	0	0	0	1	0	0	0	911	1087	38	1	1906	1	ARHGEF7	13	111935537	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08		111935537	3234341	29	15078											
SEC23A	10484	broad.mit.edu	37	14	39536469	39536469	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr14:39536469T>C	ENST00000307712.6	-	10	1652	c.1135A>G	c.(1135-1137)Act>Gct	p.T379A	SEC23A_ENST00000536508.1_Missense_Mutation_p.T253A|SEC23A_ENST00000537403.1_Missense_Mutation_p.T177A|SEC23A_ENST00000545328.2_Missense_Mutation_p.T350A|SEC23A_ENST00000553925.1_5'Flank	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	379					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.T379A(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AATAAGGAAGTATTGAAAGAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	14											95	92	93					14																	39536469		2203	4300	6503	38606220	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1135A>G	14.37:g.39536469T>C	ENSP00000306881:p.Thr379Ala		38606220	B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598622	0.66332	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.4	5.4	0.78164	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.78916	2.43	0.80722	D	1	B;B;B;B	0.31910	0.346;0.321;0.321;0.257	B;B;B;B	0.37989	0.262;0.205;0.205;0.145	T	0.76413	-0.2968	10	0.19147	T	0.46	-18.3099	15.433	0.75116	0.0:0.0:0.0:1.0	.	267;350;253;379	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	A	177;379;253;350;267	ENSP00000444193:T177A;ENSP00000306881:T379A;ENSP00000437715:T253A;ENSP00000445393:T350A	ENSP00000306881:T379A	T	-	1	0	SEC23A	38606220	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.937000	0.87672	2.053000	0.61076	0.454000	0.30748	ACT		0.358	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			C	39536469	T	C	39536469	3	2	268	1	0	0	0	0	1	0	0	0	13994	1638	57	4	1206	4	SEC23A	14	39536469	Missense_Mutation	SNP	T	TCGA-24-2030-01A-01W-0722-08		39536469	67813071	30	15079											
FAM164C	79696	broad.mit.edu	37	14	75537379	75537379	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr14:75537379T>A	ENST00000524913.1	+	2	592	c.103T>A	c.(103-105)Tac>Aac	p.Y35N	ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.Y35N|ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.Y35N	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	35							metal ion binding (GO:0046872)	p.Y35N(1)									GCAAGACTCTTACGAACAAGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											91	89	90					14																	75537379		1940	4157	6097	74607132	SO:0001583	missense	79696			AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"Zinc fingers, C2HC-type containing"	20354	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 140", "family with sequence similarity 164, member C"	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.103T>A	14.37:g.75537379T>A	ENSP00000435550:p.Tyr35Asn		74607132	E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	ENST00000524913.1	37	CCDS41972.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755039	0.69648	.	.	ENSG00000119703	ENST00000534151;ENST00000524913;ENST00000238686;ENST00000554763;ENST00000439583;ENST00000526130;ENST00000525046	T	0.58210	0.35	4.72	4.72	0.59763	.	0.147857	0.31404	N	0.007702	T	0.59128	0.2171	M	0.72118	2.19	0.37484	D	0.91611	P;P	0.48016	0.904;0.845	P;B	0.48063	0.565;0.361	T	0.70189	-0.4940	10	0.87932	D	0	-1.037	12.6243	0.56620	0.0:0.0:0.0:1.0	.	35;35	Q53FD0;E9PJQ0	F164C_HUMAN;.	N	35	ENSP00000435550:Y35N	ENSP00000238686:Y35N	Y	+	1	0	FAM164C	74607132	0.000000	0.05858	0.968000	0.41197	0.850000	0.48378	0.409000	0.21082	1.995000	0.58328	0.455000	0.32223	TAC		0.522	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		A	75537379	T	A	75537379	3	1	268	1	0	0	0	0	1	0	0	0	5479	1754	61	5	105	5	FAM164C	14	75537379	Missense_Mutation	SNP	T	TCGA-24-2030-01A-01W-0722-08	36000910	75537379	31812161	31	15080											
CHRNA5	1138	broad.mit.edu	37	15	78880661	78880661	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr15:78880661G>C	ENST00000299565.5	+	4	509	c.309G>C	c.(307-309)tgG>tgC	p.W103C	CHRNA5_ENST00000559554.1_Missense_Mutation_p.W103C|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	103					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.W103C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	TAAAGGAATGGATAGATGTAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	15											84	86	85					15																	78880661		2196	4293	6489	76667716	SO:0001583	missense	1138				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.309G>C	15.37:g.78880661G>C	ENSP00000299565:p.Trp103Cys		76667716	Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160440	0.78226	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.98684	-5.07	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97633	1.0143	10	0.87932	D	0	.	18.9117	0.92489	0.0:0.0:1.0:0.0	.	103	P30532	ACHA5_HUMAN	C	103;54	ENSP00000299565:W103C	ENSP00000299565:W103C	W	+	3	0	CHRNA5	76667716	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	9.790000	0.99075	2.522000	0.85027	0.555000	0.69702	TGG		0.333	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			C	78880661	G	C	78880661	3	2	268	1	0	0	0	0	1	0	0	0	3386	1183	41	3	323	3	CHRNA5	15	78880661	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08		78880661	23650731	32	15081											
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr17:7578370C>T	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	17											48	46	47					17																	7578370		2203	4300	6503	7519095	SO:0001630	splice_region_variant	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.559+1G>A	17.37:g.7578370C>T			7519095	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774230	0.31411	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7578370	C	T	7578370	5	4	268	1	0	0	0	0	0	0	1	0	16381	521	18	2	738	2	TP53	17	7578370	Splice_Site	SNP	C	TCGA-24-2030-01A-01W-0722-08		7578370	73616840	33	15082											
TRPV2	51393	broad.mit.edu	37	17	16335366	16335367	+	Frame_Shift_Ins	INS	-	-	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	-	-	A	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr17:16335366_16335367insA	ENST00000338560.7	+	12	2140_2141	c.1741_1742insA	c.(1741-1743)cagfs	p.Q581fs	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Frame_Shift_Ins_p.Q151fs	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	581					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.E582fs*74(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATGGAGGGACAGGAGGACGAG	0.629																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								16276092	SO:0001589	frameshift_variant	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1742dupA	17.37:g.16335367_16335367dupA	ENSP00000342222:p.Gln581fs		16276091	A6NML2|A8K0Z0|Q9Y670	Frame_Shift_Ins	INS	ENST00000338560.7	37	CCDS32576.1																																																																																				0.629	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		A	16335367	-	A	16335366	7	5	268	1	0	1	1	0	0	0	0	0	16596	479	17	0	1783	0	TRPV2	17	16335366	Frame_Shift_Ins	INS	-	TCGA-24-2030-01A-01W-0722-08	8756996	16335366	64859844	34	15083											
PTPRS	5802	broad.mit.edu	37	19	5214445	5214445	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr19:5214445C>A	ENST00000587303.1	-	29	4640	c.4541G>T	c.(4540-4542)gGc>gTc	p.G1514V	PTPRS_ENST00000262963.6_Missense_Mutation_p.G1494V|PTPRS_ENST00000588012.1_Missense_Mutation_p.G1476V|PTPRS_ENST00000372412.4_Missense_Mutation_p.G1515V|PTPRS_ENST00000348075.2_Missense_Mutation_p.G1476V|PTPRS_ENST00000353284.2_Missense_Mutation_p.G1067V|PTPRS_ENST00000357368.4_Missense_Mutation_p.G1514V|PTPRS_ENST00000592099.1_Missense_Mutation_p.G1067V|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1514	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1514V(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTGGATGAAGCCGTAGGTCTC	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											137	103	114					19																	5214445		2203	4300	6503	5165445	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4541G>T	19.37:g.5214445C>A	ENSP00000467537:p.Gly1514Val		5165445	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066333	0.55539	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	3.12	3.12	0.35913	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	U	0.000004	T	0.74030	0.3663	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.976;1.0;0.997;1.0;1.0	D	0.84257	0.0481	10	0.87932	D	0	.	14.721	0.69305	0.0:1.0:0.0:0.0	.	1096;1067;1071;1476;1514;1109	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	1109;1515;1514;1514;1505;1494;1476;1096;1071;1067	ENSP00000361489:G1515V;ENSP00000349932:G1514V;ENSP00000262963:G1494V;ENSP00000269907:G1476V;ENSP00000327313:G1067V	ENSP00000262963:G1494V	G	-	2	0	PTPRS	5165445	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	7.447000	0.80620	1.772000	0.52199	0.313000	0.20887	GGC		0.587	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5214445	C	A	5214445	3	1	268	1	0	0	0	0	1	0	0	0	12814	739	26	3	1341	3	PTPRS	19	5214445	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08		5214445	53914538	35	15084											
ANO8	57719	broad.mit.edu	37	19	17435810	17435810	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr19:17435810C>A	ENST00000159087.4	-	17	3205	c.3047G>T	c.(3046-3048)gGc>gTc	p.G1016V		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1016					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G1016V(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGTGTCGCTGCCTGTGGGTGA	0.672																																																1	Substitution - Missense(1)	ovary(1)	19											62	80	74					19																	17435810		2203	4300	6503	17296810	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3047G>T	19.37:g.17435810C>A	ENSP00000159087:p.Gly1016Val		17296810	A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483405	0.26598	.	.	ENSG00000074855	ENST00000159087	T	0.68181	-0.31	3.8	2.65	0.31530	.	0.151991	0.42294	U	0.000725	T	0.65312	0.2679	L	0.42245	1.32	0.48762	D	0.999704	D	0.64830	0.994	P	0.53549	0.729	T	0.66670	-0.5865	10	0.54805	T	0.06	.	9.2482	0.37539	0.0:0.6074:0.3926:0.0	.	1016	Q9HCE9	ANO8_HUMAN	V	1016	ENSP00000159087:G1016V	ENSP00000159087:G1016V	G	-	2	0	ANO8	17296810	0.941000	0.31946	0.281000	0.24762	0.349000	0.29174	1.987000	0.40687	1.662000	0.50781	0.478000	0.44815	GGC		0.672	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		A	17435810	C	A	17435810	3	1	268	1	0	0	0	0	1	0	0	0	703	739	26	3	659	3	ANO8	19	17435810	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08	12221365	17435810	41693173	36	15085											
ZNF529	57711	broad.mit.edu	37	19	37038675	37038675	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr19:37038675G>A	ENST00000591340.1	-	5	943	c.785C>T	c.(784-786)aCc>aTc	p.T262I	ZNF529_ENST00000334116.7_Missense_Mutation_p.T157I	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T261I(1)		breast(1)	1	Esophageal squamous(110;0.198)					TCTTTCAAAGGTCCTTCTGTA	0.328																																																1	Substitution - Missense(1)	ovary(1)	19											119	118	119					19																	37038675		1852	4101	5953	41730515	SO:0001583	missense	57711			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"Zinc fingers, C2H2-type", "-"	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.785C>T	19.37:g.37038675G>A	ENSP00000465578:p.Thr262Ile		41730515	K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	G	8.269	0.812999	0.16537	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.36	-0.197	0.13228	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39009	0.1062	L	0.60845	1.875	0.09310	N	1	B;B	0.16396	0.017;0.003	B;B	0.12837	0.008;0.002	T	0.41215	-0.9521	8	0.87932	D	0	.	4.0756	0.09902	0.2072:0.2083:0.5845:0.0	.	157;229	Q6P280-2;Q6P280	.;ZN529_HUMAN	I	262	.	ENSP00000334695:T262I	T	-	2	0	ZNF529	41730515	0.000000	0.05858	0.000000	0.03702	0.786000	0.44442	-0.617000	0.05584	-0.048000	0.13401	-0.274000	0.10170	ACC		0.328	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		A	37038675	G	A	37038675	3	1	268	1	0	0	0	0	1	0	0	0	17970	1261	44	2	910	2	ZNF529	19	37038675	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08	19602865	37038675	22090308	37	15086											
PRKD2	25865	broad.mit.edu	37	19	47207425	47207425	+	Splice_Site	SNP	C	C	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr19:47207425C>G	ENST00000291281.4	-	5	1115		c.e5+1		PRKD2_ENST00000595515.1_Splice_Site|PRKD2_ENST00000600194.1_Splice_Site|PRKD2_ENST00000433867.1_Splice_Site|PRKD2_ENST00000601806.1_Splice_Site			Q9BZL6	KPCD2_HUMAN	protein kinase D2						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCCCAGCTAACCTTTGCATTG	0.607																																																1	Unknown(1)	ovary(1)	19											77	73	74					19																	47207425		2203	4300	6503	51899265	SO:0001630	splice_region_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.889+1G>C	19.37:g.47207425C>G			51899265	Q8TB08|Q9P0T6|Q9Y3X8	Splice_Site	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881161	0.51801	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5668	0.50811	0.0:0.9163:0.0:0.0837	.	.	.	.	.	-1	.	.	.	-	.	.	PRKD2	51899265	1.000000	0.71417	0.998000	0.56505	0.398000	0.30690	5.719000	0.68462	2.637000	0.89404	0.448000	0.29417	.		0.607	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457	Intron	G	47207425	C	G	47207425	5	3	268	1	0	0	0	0	0	0	1	0	12522	521	18	3	1802	3	PRKD2	19	47207425	Splice_Site	SNP	C	TCGA-24-2030-01A-01W-0722-08	10168750	47207425	11921558	38	15087											
PLEKHA4	57664	broad.mit.edu	37	19	49344562	49344562	+	Silent	SNP	C	C	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr19:49344562C>T	ENST00000263265.6	-	17	2304	c.1749G>A	c.(1747-1749)ccG>ccA	p.P583P	PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	583						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.P583P(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCCGGGCCACCGGGGCCTAGG	0.647																																																1	Substitution - coding silent(1)	ovary(1)	19											19	23	22					19																	49344562		2202	4298	6500	54036374	SO:0001819	synonymous_variant	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1749G>A	19.37:g.49344562C>T			54036374	Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	CCDS12737.1																																																																																				0.647	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			T	49344562	C	T	49344562	2	4	268	1	0	0	0	0	0	0	0	1	12058	639	23	1		1	PLEKHA4	19	49344562	Silent	SNP	C	TCGA-24-2030-01A-01W-0722-08	2137137	49344562	9784421	39	15088											
CPT1C	126129	broad.mit.edu	37	19	50214064	50214064	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr19:50214064A>G	ENST00000392518.4	+	16	2188	c.1816A>G	c.(1816-1818)Acg>Gcg	p.T606A	CPT1C_ENST00000405931.2_Missense_Mutation_p.T595A|CPT1C_ENST00000323446.5_Missense_Mutation_p.T606A|CPT1C_ENST00000598293.1_Missense_Mutation_p.T606A|CPT1C_ENST00000354199.5_Missense_Mutation_p.T606A	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	606					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.T606A(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCGGTCTTGCACGAGGGAGGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											52	49	50					19																	50214064		2203	4300	6503	54905876	SO:0001583	missense	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1816A>G	19.37:g.50214064A>G	ENSP00000376303:p.Thr606Ala		54905876	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	a	20.6	4.012745	0.75161	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	D;D;D;D	0.91180	-1.97;-2.8;-1.97;-1.97	3.96	2.91	0.33838	.	0.208179	0.24236	N	0.040308	D	0.95175	0.8436	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	D	0.94173	0.7425	10	0.72032	D	0.01	-15.2784	8.9624	0.35856	0.8333:0.0:0.0:0.1667	.	595;606	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	A	606;606;595;606	ENSP00000376303:T606A;ENSP00000346138:T606A;ENSP00000384465:T595A;ENSP00000319343:T606A	ENSP00000319343:T606A	T	+	1	0	CPT1C	54905876	1.000000	0.71417	0.954000	0.39281	0.846000	0.48090	5.701000	0.68325	0.675000	0.31264	0.249000	0.18162	ACG		0.577	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		G	50214064	A	G	50214064	3	3	268	1	0	0	0	0	1	0	0	0	3833	159	6	4	1870	4	CPT1C	19	50214064	Missense_Mutation	SNP	A	TCGA-24-2030-01A-01W-0722-08	869502	50214064	8914919	40	15089											
PLCB1	23236	broad.mit.edu	37	20	8717739	8717739	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr20:8717739G>C	ENST00000338037.6	+	20	2135	c.2108G>C	c.(2107-2109)gGt>gCt	p.G703A	PLCB1_ENST00000378641.3_Missense_Mutation_p.G703A|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.G703A	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	703	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.G703A(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GATATGTTTGGTTTGCCTGTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	20											130	124	126					20																	8717739		2203	4300	6503	8665739	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2108G>C	20.37:g.8717739G>C	ENSP00000338185:p.Gly703Ala		8665739	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643533	0.87859	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.987;1.0	T	0.78476	-0.2189	10	0.87932	D	0	.	19.6011	0.95561	0.0:0.0:1.0:0.0	.	703;703	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	A	703;703;703;623;623;49;22	ENSP00000367908:G703A;ENSP00000338185:G703A;ENSP00000367904:G703A;ENSP00000391162:G22A	ENSP00000338185:G703A	G	+	2	0	PLCB1	8665739	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.813000	0.99286	2.703000	0.92315	0.557000	0.71058	GGT		0.368	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			C	8717739	G	C	8717739	3	2	268	1	0	0	0	0	1	0	0	0	12027	1261	44	3	2186	3	PLCB1	20	8717739	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08		8717739	54307781	41	15090											
PCNT	5116	broad.mit.edu	37	21	47766096	47766096	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr21:47766096G>T	ENST00000359568.5	+	4	801	c.694G>T	c.(694-696)Gat>Tat	p.D232Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	232	Glu-rich.				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.D232Y(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)					CGGCCGTGAAGATGAGGCTGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	21											99	88	91					21																	47766096		2203	4300	6503	46590524	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.694G>T	21.37:g.47766096G>T	ENSP00000352572:p.Asp232Tyr		46590524	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445435	0.25987	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01560	4.77	3.27	3.27	0.37495	.	.	.	.	.	T	0.02929	0.0087	N	0.14661	0.345	0.09310	N	1	D;D	0.63046	0.992;0.987	P;P	0.57425	0.82;0.665	T	0.53885	-0.8375	9	0.59425	D	0.04	.	10.2928	0.43605	0.0:0.0:1.0:0.0	.	114;232	O95613-2;O95613	.;PCNT_HUMAN	Y	232;219	ENSP00000352572:D232Y	ENSP00000338675:D219Y	D	+	1	0	PCNT	46590524	0.014000	0.17966	0.018000	0.16275	0.016000	0.09150	1.190000	0.32126	2.164000	0.68074	0.313000	0.20887	GAT		0.557	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		T	47766096	G	T	47766096	3	4	268	1	0	0	0	0	1	0	0	0	11590	942	33	3	708	3	PCNT	21	47766096	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08		47766096	363799	42	15091											
PCNT	5116	broad.mit.edu	37	21	47766901	47766901	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr21:47766901G>T	ENST00000359568.5	+	5	1072	c.965G>T	c.(964-966)gGa>gTa	p.G322V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	322	Glu-rich.				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.G322V(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)					CTCAGGTGTGGACAGGAAGCA	0.662																																																1	Substitution - Missense(1)	ovary(1)	21											43	27	33					21																	47766901		2203	4297	6500	46591329	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.965G>T	21.37:g.47766901G>T	ENSP00000352572:p.Gly322Val		46591329	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	9.966	1.224187	0.22457	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.31510	1.49	5.16	-0.997	0.10215	.	5.653410	0.01056	N	0.004546	T	0.21674	0.0522	L	0.36672	1.1	0.09310	N	1	P;P	0.44734	0.617;0.842	B;B	0.33960	0.173;0.084	T	0.33033	-0.9884	10	0.30078	T	0.28	.	8.3041	0.32032	0.1929:0.5063:0.3009:0.0	.	204;322	O95613-2;O95613	.;PCNT_HUMAN	V	322;309	ENSP00000352572:G322V	ENSP00000338675:G309V	G	+	2	0	PCNT	46591329	0.003000	0.15002	0.000000	0.03702	0.491000	0.33493	0.565000	0.23578	-0.087000	0.12528	0.563000	0.77884	GGA		0.662	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		T	47766901	G	T	47766901	3	4	268	1	0	0	0	0	1	0	0	0	11590	1174	41	3	983	3	PCNT	21	47766901	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08	805	47766901	362994	43	15092											
APOBEC3A	200315	broad.mit.edu	37	22	39353718	39353718	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chr22:39353718G>A	ENST00000402255.1	+	2	226	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	APOBEC3A_ENST00000249116.2_Missense_Mutation_p.G8R			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	8					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)	p.G8R(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					CCCAGCATCCGGGCCCAGGTA	0.597																																																1	Substitution - Missense(1)	ovary(1)	22											122	105	111					22																	39353718		2199	4299	6498	37683664	SO:0001583	missense	200315			U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"Apolipoprotein B mRNA editing enzymes"	17343	protein-coding gene	gene with protein product	"phorbolin I"	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.22G>A	22.37:g.39353718G>A	ENSP00000384359:p.Gly8Arg		37683664	A0AVM1|Q12807|Q5JZ93|Q9UH18	Missense_Mutation	SNP	ENST00000402255.1	37	CCDS13981.1	.	.	.	.	.	.	.	.	.	.	.	1.423	-0.572341	0.03882	.	.	ENSG00000128383	ENST00000402255;ENST00000249116	T;T	0.61510	0.1;0.1	2.0	-4.0	0.04057	.	.	.	.	.	T	0.16085	0.0387	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.11108	-1.0601	9	0.06099	T	0.92	.	8.1543	0.31160	0.1837:0.0:0.6759:0.1403	.	8;8	B7ZLZ1;P31941	.;ABC3A_HUMAN	R	8	ENSP00000384359:G8R;ENSP00000249116:G8R	ENSP00000249116:G8R	G	+	1	0	APOBEC3A	37683664	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.024000	0.01436	-2.887000	0.00316	-1.305000	0.01319	GGG		0.597	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320915.2	NM_145699		A	39353718	G	A	39353718	3	1	268	1	0	0	0	0	1	0	0	0	789	1116	39	1	24	1	APOBEC3A	22	39353718	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08		39353718	11950848	44	15093											
ACE2	59272	broad.mit.edu	37	X	15596408	15596408	+	Silent	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chrX:15596408G>A	ENST00000252519.3	-	9	1203	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	ACE2_ENST00000427411.1_Silent_p.D367D			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	367					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.D367D(2)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TCAGGAAGTCGTCCATTGTCA	0.408																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	X											93	75	81					X																	15596408		2203	4300	6503	15506329	SO:0001819	synonymous_variant	59272			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1101C>T	X.37:g.15596408G>A			15506329	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Silent	SNP	ENST00000252519.3	37	CCDS14169.1																																																																																				0.408	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			A	15596408	G	A	15596408	2	1	268	1	0	0	0	0	0	0	0	1	137	1136	40	1		1	ACE2	23	15596408	Silent	SNP	G	TCGA-24-2030-01A-01W-0722-08		15596408	139674152	45	15094											
MAGEB6	158809	broad.mit.edu	37	X	26212380	26212380	+	Silent	SNP	C	C	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chrX:26212380C>A	ENST00000379034.1	+	2	566	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	139	Ser-rich.							p.S139S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CAAGCACTTCCCATGATGTCT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	X											83	77	79					X																	26212380		2202	4300	6502	26122301	SO:0001819	synonymous_variant	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.417C>A	X.37:g.26212380C>A			26122301	Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	CCDS14217.1																																																																																				0.542	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		A	26212380	C	A	26212380	2	1	268	1	0	0	0	0	0	0	0	1	9179	610	22	3		3	MAGEB6	23	26212380	Silent	SNP	C	TCGA-24-2030-01A-01W-0722-08	10615972	26212380	129058180	46	15095											
DMD	1756	broad.mit.edu	37	X	31165530	31165530	+	Silent	SNP	G	G	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chrX:31165530G>T	ENST00000357033.4	-	75	10865	c.10659C>A	c.(10657-10659)ccC>ccA	p.P3553P	DMD_ENST00000359836.1_Silent_p.P1080P|DMD_ENST00000378680.2_Silent_p.P375P|DMD_ENST00000378723.3_Silent_p.P485P|DMD_ENST00000541735.1_Silent_p.P983P|DMD_ENST00000378702.4_Silent_p.P485P|DMD_ENST00000343523.2_Silent_p.P983P|DMD_ENST00000361471.4_Silent_p.P472P|DMD_ENST00000474231.1_Silent_p.P1093P|DMD_ENST00000378707.3_Silent_p.P1093P|DMD_ENST00000378677.2_Silent_p.P3549P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3553					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.P3548P(1)|p.P1093P(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGCATCCCGGGGACTCTGGG	0.557																																																2	Substitution - coding silent(2)	ovary(2)	X											67	54	58					X																	31165530		2202	4300	6502	31075451	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10659C>A	X.37:g.31165530G>T			31075451	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023598	0.19433	.	.	ENSG00000198947	ENST00000465285	T	0.03181	4.02	4.62	2.82	0.32997	.	0.000000	0.34879	U	0.003610	T	0.04770	0.0129	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51764	-0.8664	6	.	.	.	.	3.4664	0.07552	0.085:0.1438:0.4711:0.3001	.	.	.	.	T	1282	ENSP00000420046:P1282T	.	P	-	1	0	DMD	31075451	0.390000	0.25213	1.000000	0.80357	0.993000	0.82548	-0.379000	0.07437	0.380000	0.24823	-0.371000	0.07208	CCG		0.557	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31165530	G	T	31165530	2	4	268	1	0	0	0	0	0	0	0	1	4580	1219	43	3		3	DMD	23	31165530	Silent	SNP	G	TCGA-24-2030-01A-01W-0722-08	4953150	31165530	124105030	47	15096											
PSMD10	5716	broad.mit.edu	37	X	107328302	107328302	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chrX:107328302C>T	ENST00000217958.3	-	5	680	c.583G>A	c.(583-585)Gga>Aga	p.G195R	PSMD10_ENST00000361815.5_3'UTR|PSMD10_ENST00000372296.1_3'UTR|PSMD10_ENST00000340200.5_Missense_Mutation_p.G162R|PSMD10_ENST00000372295.1_Missense_Mutation_p.G154R	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	195	Interaction with RB1.|Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)	p.G195R(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ATACTTGCTCCTTGGGACACC	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											154	151	152					X																	107328302		2203	4300	6503	107214958	SO:0001583	missense	5716			AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"Proteasome (prosome, macropain) subunits", "Ankyrin repeat domain containing"	9555	protein-coding gene	gene with protein product	"gankyrin"	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.583G>A	X.37:g.107328302C>T	ENSP00000217958:p.Gly195Arg		107214958	Q5U0B2|Q8IZK9	Missense_Mutation	SNP	ENST00000217958.3	37	CCDS14536.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859685	0.91433	.	.	ENSG00000101843	ENST00000217958;ENST00000372295;ENST00000340200	T;T;T	0.65549	-0.16;-0.16;-0.16	4.98	4.98	0.66077	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88182	0.2871	10	0.72032	D	0.01	-12.0119	17.6919	0.88270	0.0:1.0:0.0:0.0	.	195	O75832	PSD10_HUMAN	R	195;154;162	ENSP00000217958:G195R;ENSP00000361369:G154R;ENSP00000345963:G162R	ENSP00000217958:G195R	G	-	1	0	PSMD10	107214958	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.272000	0.78516	2.452000	0.82932	0.594000	0.82650	GGA		0.443	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057868.1	NM_170750		T	107328302	C	T	107328302	3	4	268	1	0	0	0	0	1	0	0	0	12696	690	24	2	101	2	PSMD10	23	107328302	Missense_Mutation	SNP	C	TCGA-24-2030-01A-01W-0722-08	76162772	107328302	47942258	48	15097											
ZNF280C	55609	broad.mit.edu	37	X	129377604	129377604	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2030-01A-01W-0722-08	TCGA-24-2030-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	70857a57-6a62-49ba-8476-8af7b754ba19	6f0f4513-1b31-4494-b5c0-e6dcf3556621	g.chrX:129377604G>A	ENST00000370978.4	-	5	467	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	105	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S105L(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						AAATCTAGGCGAGGCAGCCAC	0.358																																																1	Substitution - Missense(1)	ovary(1)	X											62	65	64					X																	129377604		2203	4300	6503	129205285	SO:0001583	missense	55609			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.314C>T	X.37:g.129377604G>A	ENSP00000360017:p.Ser105Leu		129205285	A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338275	0.01287	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.20881	2.04;2.04	3.76	-2.51	0.06365	.	.	.	.	.	T	0.06600	0.0169	N	0.02315	-0.6	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.42849	-0.9427	9	0.09084	T	0.74	.	9.2955	0.37813	0.3185:0.0:0.6815:0.0	.	105;105	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	L	105	ENSP00000360017:S105L;ENSP00000408521:S105L	ENSP00000066465:S105L	S	-	2	0	ZNF280C	129205285	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	0.628000	0.24522	-0.704000	0.05042	-1.352000	0.01234	TCG		0.358	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		A	129377604	G	A	129377604	3	1	268	1	0	0	0	0	1	0	0	0	17816	1059	37	1	1959	1	ZNF280C	23	129377604	Missense_Mutation	SNP	G	TCGA-24-2030-01A-01W-0722-08	22049302	129377604	25892956	49	15098											
MACF1	23499	broad.mit.edu	37	1	39853854	39853854	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr1:39853854A>T	ENST00000372915.3	+	57	15442	c.15355A>T	c.(15355-15357)Atg>Ttg	p.M5119L	MACF1_ENST00000564288.1_Missense_Mutation_p.M5114L|MACF1_ENST00000545844.1_Missense_Mutation_p.M3052L|MACF1_ENST00000317713.7_Missense_Mutation_p.M3052L|MACF1_ENST00000361689.2_Missense_Mutation_p.M3052L|MACF1_ENST00000539005.1_Missense_Mutation_p.M3031L|MACF1_ENST00000289893.4_Missense_Mutation_p.M3554L|MACF1_ENST00000567887.1_Missense_Mutation_p.M5151L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5119					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.M3554L(1)|p.M3052L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGTGTGATGATGGAAAACAA	0.517																																																2	Substitution - Missense(2)	ovary(2)	1											110	97	101					1																	39853854		2203	4300	6503	39626441	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15355A>T	1.37:g.39853854A>T	ENSP00000362006:p.Met5119Leu		39626441	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.418|0.418	-0.909816|-0.909816	0.02434|0.02434	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.12569	.|2.67;2.67;2.67;2.67;2.67;2.67	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.12887|0.12887	0.27|0.27	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23316	.|0.083;0.024;0.003	.|B;B;B	.|0.34038	.|0.174;0.012;0.012	T|T	0.06643|0.06643	-1.0815|-1.0815	5|10	.|0.02654	.|T	.|1	.|.	16.3245|16.3245	0.82970|0.82970	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|5119;3052;2996	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	V|L	2164|3052;5119;3052;3052;3031;3554	.|ENSP00000439537:M3052L;ENSP00000362006:M5119L;ENSP00000354573:M3052L;ENSP00000313438:M3052L;ENSP00000444364:M3031L;ENSP00000289893:M3554L	.|ENSP00000289893:M3554L	D|M	+|+	2|1	0|0	MACF1|MACF1	39626441|39626441	0.987000|0.987000	0.35691|0.35691	0.932000|0.932000	0.37286|0.37286	0.990000|0.990000	0.78478|0.78478	2.737000|2.737000	0.47393|0.47393	2.254000|2.254000	0.74563|0.74563	0.460000|0.460000	0.39030|0.39030	GAT|ATG		0.517	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39853854	A	T	39853854	3	4	269	1	0	0	0	0	1	0	0	0	9144	333	12	5	15515	5	MACF1	1	39853854	Missense_Mutation	SNP	A	TCGA-24-2035-01A-01W-0722-08		39853854	209396767	1	15099											
ACP6	51205	broad.mit.edu	37	1	147126383	147126383	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr1:147126383T>C	ENST00000369238.6	-	6	1153	c.706A>G	c.(706-708)Aag>Gag	p.K236E	ACP6_ENST00000392988.2_Missense_Mutation_p.K236E	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	236					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.K236E(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ATCCTGTCCTTCACCTTTTTC	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											148	124	132					1																	147126383		2203	4300	6503	145593007	SO:0001583	missense	51205			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.706A>G	1.37:g.147126383T>C	ENSP00000358241:p.Lys236Glu		145593007	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	CCDS928.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128935	0.56721	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	T;T	0.28666	1.6;1.6	5.59	4.49	0.54785	.	0.259495	0.46442	D	0.000290	T	0.12178	0.0296	L	0.55743	1.74	0.33261	D	0.559738	P;P	0.38078	0.617;0.58	B;B	0.35182	0.124;0.197	T	0.06127	-1.0844	10	0.09843	T	0.71	.	12.4653	0.55755	0.0:0.0:0.2286:0.7714	.	236;236	Q9NPH0-2;Q9NPH0	.;PPA6_HUMAN	E	236	ENSP00000358241:K236E;ENSP00000376714:K236E	ENSP00000358241:K236E	K	-	1	0	ACP6	145593007	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	2.800000	0.47900	2.117000	0.64856	0.533000	0.62120	AAG		0.483	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		C	147126383	T	C	147126383	3	2	269	1	0	0	0	0	1	0	0	0	165	1792	62	4	600	4	ACP6	1	147126383	Missense_Mutation	SNP	T	TCGA-24-2035-01A-01W-0722-08	107272529	147126383	102124238	2	15100											
INTS3	65123	broad.mit.edu	37	1	153724880	153724880	+	Silent	SNP	C	C	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr1:153724880C>T	ENST00000318967.2	+	8	1423	c.855C>T	c.(853-855)ttC>ttT	p.F285F	snoU13_ENST00000458994.1_RNA|INTS3_ENST00000476843.1_3'UTR|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Silent_p.F285F|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000456435.1_Silent_p.F79F|INTS3_ENST00000512605.1_Silent_p.F79F	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	286					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.F285F(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCCTCAGTTCACAGGTAAGT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	1											242	222	229					1																	153724880		2203	4300	6503	151991504	SO:0001819	synonymous_variant	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.855C>T	1.37:g.153724880C>T			151991504	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	CCDS1052.1																																																																																				0.448	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		T	153724880	C	T	153724880	2	4	269	1	0	0	0	0	0	0	0	1	7779	825	29	2		2	INTS3	1	153724880	Silent	SNP	C	TCGA-24-2035-01A-01W-0722-08	6598497	153724880	95525741	3	15101											
RUSC1	23623	broad.mit.edu	37	1	155294895	155294895	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr1:155294895C>G	ENST00000368352.5	+	4	1610	c.1459C>G	c.(1459-1461)Ctt>Gtt	p.L487V	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368347.4_Missense_Mutation_p.L77V|RUSC1_ENST00000368349.4_Missense_Mutation_p.L18V|RUSC1_ENST00000462780.1_3'UTR|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.L487V|RUSC1_ENST00000292254.4_Missense_Mutation_p.L18V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	487	Interaction with TRAF6.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.L18V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTCCCAGGTCTTCTGATAGC	0.622											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											99	114	109					1																	155294895		2203	4300	6503	153561519	SO:0001583	missense	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1459C>G	1.37:g.155294895C>G	ENSP00000357336:p.Leu487Val	1769	153561519	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597544	0.46318	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	4.67	3.75	0.43078	.	0.000000	0.43579	D	0.000550	T	0.36110	0.0955	M	0.72118	2.19	0.43489	D	0.995723	D;D;D;D;D	0.76494	0.999;0.999;0.997;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.991;0.983;0.991;0.977	T	0.28038	-1.0056	10	0.87932	D	0	-25.8491	9.3961	0.38404	0.0:0.8248:0.0:0.1752	.	18;18;77;92;487	B4DQB8;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;RUSC1_HUMAN	V	487;487;77;18;18	ENSP00000357338:L487V;ENSP00000357336:L487V;ENSP00000357331:L77V;ENSP00000357333:L18V;ENSP00000292254:L18V	ENSP00000292254:L18V	L	+	1	0	RUSC1	153561519	0.999000	0.42202	1.000000	0.80357	0.053000	0.15095	2.053000	0.41326	1.309000	0.44985	0.655000	0.94253	CTT		0.622	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			G	155294895	C	G	155294895	3	3	269	1	0	0	0	0	1	0	0	0	13753	913	32	3	1600	3	RUSC1	1	155294895	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	1570015	155294895	93955726	4	15102											
C2orf63	130162	broad.mit.edu	37	2	55439841	55439841	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr2:55439841G>C	ENST00000401408.1	-	5	812	c.467C>G	c.(466-468)aCt>aGt	p.T156S	CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.T156S|AC012358.7_ENST00000366153.2_RNA|CLHC1_ENST00000406076.1_Missense_Mutation_p.T34S	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	156								p.T156S(2)									TTTGGAGAAAGTACAATATTT	0.323																																																2	Substitution - Missense(2)	ovary(2)	2											129	123	125					2																	55439841		2201	4300	6501	55293345	SO:0001583	missense	130162				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.467C>G	2.37:g.55439841G>C	ENSP00000384869:p.Thr156Ser		55293345	B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.458218	0.01071	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.16324	2.35;2.35;2.36	4.85	1.84	0.25277	.	0.702749	0.13455	N	0.386570	T	0.13157	0.0319	L	0.60455	1.87	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.25293	-1.0136	10	0.21014	T	0.42	-2.472	3.9143	0.09216	0.2023:0.0:0.6097:0.188	.	156	Q8NHS4	CB063_HUMAN	S	156;156;34	ENSP00000385778:T156S;ENSP00000384869:T156S;ENSP00000385512:T34S	ENSP00000384869:T156S	T	-	2	0	C2orf63	55293345	0.007000	0.16637	0.030000	0.17652	0.283000	0.27025	0.814000	0.27239	0.571000	0.29365	0.555000	0.69702	ACT		0.323	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		C	55439841	G	C	55439841	3	2	269	1	0	0	0	0	1	0	0	0	2182	1029	36	3	1329	3	C2orf63	2	55439841	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08		55439841	187759532	5	15103											
YSK4	80122	broad.mit.edu	37	2	135745384	135745384	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr2:135745384C>A	ENST00000375845.3	-	7	1088	c.1058G>T	c.(1057-1059)gGt>gTt	p.G353V	MAP3K19_ENST00000392915.1_Missense_Mutation_p.G370V|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G240V	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	353							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G353V(1)									CGTTTTACTACCATGGCAGTC	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											62	59	60					2																	135745384		2203	4300	6503	135461854	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1058G>T	2.37:g.135745384C>A	ENSP00000365005:p.Gly353Val		135461854	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299862	0.05532	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.69806	-0.43;-0.43;1.93	4.67	-0.781	0.10965	.	0.000000	0.40908	D	0.000989	T	0.42720	0.1215	L	0.34521	1.04	0.09310	N	0.999998	B;B;B	0.24368	0.091;0.102;0.055	B;B;B	0.23852	0.018;0.049;0.008	T	0.27468	-1.0073	10	0.06625	T	0.88	.	4.9059	0.13799	0.1474:0.4295:0.0:0.4231	.	240;370;353	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	V	353;240;370	ENSP00000365005:G353V;ENSP00000351140:G240V;ENSP00000376647:G370V	ENSP00000351140:G240V	G	-	2	0	YSK4	135461854	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.356000	0.07661	-0.049000	0.13379	0.637000	0.83480	GGT		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135745384	C	A	135745384	3	1	269	1	0	0	0	0	1	0	0	0	17495	507	18	3	2944	3	YSK4	2	135745384	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	80305543	135745384	107453989	6	15104											
PPP1R7	5510	broad.mit.edu	37	2	242099843	242099843	+	Silent	SNP	T	T	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr2:242099843T>C	ENST00000234038.6	+	6	1005	c.531T>C	c.(529-531)agT>agC	p.S177S	PPP1R7_ENST00000406106.3_Silent_p.S177S|PPP1R7_ENST00000407025.1_Silent_p.S177S|PPP1R7_ENST00000404405.3_Silent_p.S171S|PPP1R7_ENST00000402734.1_Silent_p.S118S|PPP1R7_ENST00000272983.8_Silent_p.S134S|PPP1R7_ENST00000401987.1_Silent_p.S134S|PPP1R7_ENST00000485630.1_3'UTR	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	177					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)	p.S177S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ATAAAATCAGTAAAATTGAGA	0.403																																					NSCLC(62;446 1299 5417 11238 27640)											1	Substitution - coding silent(1)	ovary(1)	2											67	66	66					2																	242099843		2203	4300	6503	241748516	SO:0001819	synonymous_variant	5510			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.531T>C	2.37:g.242099843T>C			241748516	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Silent	SNP	ENST00000234038.6	37	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	T	9.220	1.033038	0.19590	.	.	ENSG00000115685	ENST00000450367	.	.	.	5.52	-1.14	0.09741	.	.	.	.	.	T	0.57844	0.2081	.	.	.	0.52501	D	0.999954	.	.	.	.	.	.	T	0.54430	-0.8295	4	.	.	.	-5.0568	11.1087	0.48218	0.0:0.6984:0.0:0.3016	.	.	.	.	A	152	.	.	V	+	2	0	PPP1R7	241748516	0.240000	0.23847	0.427000	0.26684	0.822000	0.46500	0.722000	0.25925	-0.148000	0.11234	-1.151000	0.01829	GTA		0.403	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		C	242099843	T	C	242099843	2	2	269	1	0	0	0	0	0	0	0	1	12379	1635	57	4		4	PPP1R7	2	242099843	Silent	SNP	T	TCGA-24-2035-01A-01W-0722-08	106354459	242099843	1099530	7	15105											
EDEM1	9695	broad.mit.edu	37	3	5249779	5249779	+	Splice_Site	SNP	T	T	G			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr3:5249779T>G	ENST00000256497.4	+	8	1473	c.1340T>G	c.(1339-1341)gTg>gGg	p.V447G	EDEM1_ENST00000445686.1_Splice_Site_p.V252G	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	447					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.V447G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTCCTTAGGTGCTGATAGGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	3											220	184	196					3																	5249779		2203	4300	6503	5224779	SO:0001630	splice_region_variant	9695			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1339-1T>G	3.37:g.5249779T>G			5224779	A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370386	0.82573	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.72505	-0.66;-0.66	5.11	5.11	0.69529	.	0.054502	0.64402	D	0.000001	T	0.80486	0.4632	L	0.55743	1.74	0.80722	D	1	D;D	0.67145	0.973;0.996	P;D	0.70227	0.898;0.968	T	0.82378	-0.0487	10	0.66056	D	0.02	-22.6385	15.2074	0.73190	0.0:0.0:0.0:1.0	.	252;447	B4DXP3;Q92611	.;EDEM1_HUMAN	G	447;252	ENSP00000256497:V447G;ENSP00000394099:V252G	ENSP00000256497:V447G	V	+	2	0	EDEM1	5224779	1.000000	0.71417	0.990000	0.47175	0.955000	0.61496	7.619000	0.83057	2.035000	0.60131	0.533000	0.62120	GTG		0.527	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674	Missense_Mutation	G	5249779	T	G	5249779	5	3	269	1	0	0	0	0	0	0	1	0	4911	1710	59	5	1370	5	EDEM1	3	5249779	Splice_Site	SNP	T	TCGA-24-2035-01A-01W-0722-08		5249779	192772651	8	15106											
MYRIP	25924	broad.mit.edu	37	3	40085601	40085601	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr3:40085601G>T	ENST00000302541.6	+	3	513	c.171G>T	c.(169-171)caG>caT	p.Q57H	MYRIP_ENST00000444716.1_Missense_Mutation_p.Q57H|MYRIP_ENST00000425621.1_Missense_Mutation_p.Q57H|MYRIP_ENST00000396217.3_Missense_Mutation_p.S14I	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	57	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.Q57H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CGAAGCACCAGCAGTTTGTGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	3											94	74	81					3																	40085601		2203	4300	6503	40060605	SO:0001583	missense	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.171G>T	3.37:g.40085601G>T	ENSP00000301972:p.Gln57His		40060605	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	CCDS2689.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.65|14.65	2.598715|2.598715	0.46318|0.46318	.|.	.|.	ENSG00000170011|ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621|ENST00000396217	T;T;T|T	0.76448|0.23552	-1.02;-1.02;-1.02|1.9	5.65|5.65	4.77|4.77	0.60923|0.60923	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);|.	0.359478|.	0.29159|.	N|.	0.012979|.	T|T	0.17916|0.17916	0.0430|0.0430	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;P;P|B	0.44309|0.31730	0.626;0.742;0.832|0.337	B;P;B|B	0.49276|0.28011	0.401;0.605;0.429|0.085	T|T	0.04593|0.04593	-1.0940|-1.0940	9|8	.|.	.|.	.|.	.|.	12.7419|12.7419	0.57257|0.57257	0.0816:0.0:0.9184:0.0|0.0816:0.0:0.9184:0.0	.|.	57;57;57|14	B3KWW4;G3XAI8;Q8NFW9|Q32M42	.;.;MYRIP_HUMAN|.	H|I	57|14	ENSP00000398665:Q57H;ENSP00000301972:Q57H;ENSP00000389323:Q57H|ENSP00000379519:S14I	.|.	Q|S	+|+	3|2	2|0	MYRIP|MYRIP	40060605|40060605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.364000|2.364000	0.44187|0.44187	2.669000|2.669000	0.90835|0.90835	0.563000|0.563000	0.77884|0.77884	CAG|AGC		0.542	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		T	40085601	G	T	40085601	3	4	269	1	0	0	0	0	1	0	0	0	10100	962	34	3	177	3	MYRIP	3	40085601	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	34835822	40085601	157936829	9	15107											
DNAH12	201625	broad.mit.edu	37	3	57509542	57509542	+	Silent	SNP	A	A	G			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr3:57509542A>G	ENST00000351747.2	-	3	420	c.240T>C	c.(238-240)gaT>gaC	p.D80D	DNAH12_ENST00000389536.4_Silent_p.D80D|DNAH12_ENST00000311202.6_Silent_p.D80D	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	80	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D80D(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTTGAGGATAATCAGGTGGTG	0.289																																																1	Substitution - coding silent(1)	ovary(1)	3											105	106	105					3																	57509542		2203	4290	6493	57484582	SO:0001819	synonymous_variant	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.240T>C	3.37:g.57509542A>G			57484582	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37																																																																																					0.289	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		G	57509542	A	G	57509542	2	3	269	1	0	0	0	0	0	0	0	1	4600	98	4	4		4	DNAH12	3	57509542	Silent	SNP	A	TCGA-24-2035-01A-01W-0722-08	17423941	57509542	140512888	10	15108											
LRIG1	26018	broad.mit.edu	37	3	66431105	66431105	+	Missense_Mutation	SNP	G	G	T	rs139738729		TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr3:66431105G>T	ENST00000273261.3	-	18	3475	c.2951C>A	c.(2950-2952)gCc>gAc	p.A984D	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A961D	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	984					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.A984D(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGACCCAGCGGCAGTCCTGCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											96	101	99					3																	66431105		2203	4300	6503	66513795	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2951C>A	3.37:g.66431105G>T	ENSP00000273261:p.Ala984Asp		66513795	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.626045	0.28978	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.64438	-0.1;-0.07	5.64	-8.88	0.00789	.	2.258740	0.01906	N	0.039501	T	0.45736	0.1357	L	0.29908	0.895	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.001	T	0.22800	-1.0206	10	0.29301	T	0.29	.	10.4063	0.44258	0.26:0.1913:0.5486:0.0	.	961;984;984	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	D	984;961;887	ENSP00000273261:A984D;ENSP00000373208:A961D	ENSP00000273261:A984D	A	-	2	0	LRIG1	66513795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.970000	0.03810	-1.479000	0.01867	-1.246000	0.01523	GCC		0.597	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		T	66431105	G	T	66431105	3	4	269	1	0	0	0	0	1	0	0	0	8944	1203	42	3	338	3	LRIG1	3	66431105	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	8921563	66431105	131591325	11	15109											
LMOD3	56203	broad.mit.edu	37	3	69158249	69158249	+	Silent	SNP	C	C	T	rs377046368		TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr3:69158249C>T	ENST00000420581.2	-	3	1859	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A	LMOD3_ENST00000489031.1_Silent_p.A560A|LMOD3_ENST00000475434.1_Silent_p.A560A	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	560			A -> V (in dbSNP:rs17005363).			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A560A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTGCCTCTTACGCCAGTTCTT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	3						C		0,3802		0,0,1901	139	119	125		1680	-5.9	0	3		125	1,8233		0,1,4116	no	coding-synonymous	LMOD3	NM_198271.3		0,1,6017	TT,TC,CC		0.0121,0.0,0.0083		560/561	69158249	1,12035	1901	4117	6018	69240939	SO:0001819	synonymous_variant	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1680G>A	3.37:g.69158249C>T			69240939	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	37	CCDS46862.1																																																																																				0.408	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		T	69158249	C	T	69158249	2	4	269	1	0	0	0	0	0	0	0	1	8858	523	19	1		1	LMOD3	3	69158249	Silent	SNP	C	TCGA-24-2035-01A-01W-0722-08	2727144	69158249	128864181	12	15110											
FAM55C	91775	broad.mit.edu	37	3	101540352	101540352	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr3:101540352A>G	ENST00000491511.2	+	8	2190	c.1234A>G	c.(1234-1236)Atc>Gtc	p.I412V	NXPE3_ENST00000273347.5_Missense_Mutation_p.I412V|NXPE3_ENST00000422132.1_Missense_Mutation_p.I412V|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000477909.1_Missense_Mutation_p.I412V	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	412						extracellular region (GO:0005576)		p.I412V(1)									TGGTCCACCCATCCGCTTCAC	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											133	101	112					3																	101540352		2203	4300	6503	103023042	SO:0001583	missense	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1234A>G	3.37:g.101540352A>G	ENSP00000417485:p.Ile412Val		103023042	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457508	0.84317	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.41492	1.28	0.80722	D	1	D	0.63046	0.992	P	0.53549	0.729	T	0.00981	-1.1492	10	0.27082	T	0.32	-18.0929	16.1968	0.82036	1.0:0.0:0.0:0.0	.	412	Q969Y0	FA55C_HUMAN	V	412	ENSP00000273347:I412V;ENSP00000417485:I412V;ENSP00000418369:I412V;ENSP00000396421:I412V	ENSP00000273347:I412V	I	+	1	0	FAM55C	103023042	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.232000	0.95325	2.225000	0.72522	0.533000	0.62120	ATC		0.507	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		G	101540352	A	G	101540352	3	3	269	1	0	0	0	0	1	0	0	0	5586	217	8	4	1252	4	FAM55C	3	101540352	Missense_Mutation	SNP	A	TCGA-24-2035-01A-01W-0722-08	32382103	101540352	96482078	13	15111											
PIK3CA	5290	broad.mit.edu	37	3	178917653	178917653	+	Silent	SNP	A	A	G			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr3:178917653A>G	ENST00000263967.3	+	3	685	c.528A>G	c.(526-528)gaA>gaG	p.E176E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	176					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E176E(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTTCACCAGAATTGCCAAAGC	0.343		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1	Substitution - coding silent(1)	ovary(1)	3											97	96	97					3																	178917653		1823	4072	5895	180400347	SO:0001819	synonymous_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.528A>G	3.37:g.178917653A>G			180400347	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178917653	A	G	178917653	2	3	269	1	0	0	0	0	0	0	0	1	11913	98	4	4		4	PIK3CA	3	178917653	Silent	SNP	A	TCGA-24-2035-01A-01W-0722-08	77377301	178917653	19104777	14	15112											
SULT1E1	6783	broad.mit.edu	37	4	70713415	70713415	+	Splice_Site	SNP	C	C	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr4:70713415C>T	ENST00000226444.3	-	6	704		c.e6+1			NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	CAGTTCCTCACCTCTTTCAGG	0.348																																																1	Unknown(1)	ovary(1)	4											81	82	81					4																	70713415		2203	4299	6502	70748004	SO:0001630	splice_region_variant	6783			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.591+1G>A	4.37:g.70713415C>T			70748004	Q8N6X5	Splice_Site	SNP	ENST00000226444.3	37	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667705	0.29604	.	.	ENSG00000109193	ENST00000226444	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8747	0.70485	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT1E1	70748004	1.000000	0.71417	0.993000	0.49108	0.359000	0.29487	4.164000	0.58190	2.631000	0.89168	0.650000	0.86243	.		0.348	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420	Intron	T	70713415	C	T	70713415	5	4	269	1	0	0	0	0	0	0	1	0	15380	521	18	2	304	2	SULT1E1	4	70713415	Splice_Site	SNP	C	TCGA-24-2035-01A-01W-0722-08		70713415	120440861	15	15113											
PCDHA1	9752	broad.mit.edu	37	5	140389306	140389306	+	Silent	SNP	C	C	T	rs199624636		TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr5:140389306C>T	ENST00000532602.1	+	4	3670	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S	PCDHA10_ENST00000307360.5_Silent_p.S877S|PCDHA11_ENST00000398640.2_Silent_p.S878S|PCDHAC1_ENST00000253807.2_Silent_p.S892S|PCDHAC2_ENST00000289269.5_Silent_p.S936S|PCDHA7_ENST00000525929.1_Silent_p.S866S|PCDHA13_ENST00000289272.2_Silent_p.S879S|PCDHA1_ENST00000504120.2_Silent_p.S879S|PCDHA4_ENST00000512229.2_Silent_p.S876S|PCDHA8_ENST00000531613.1_Silent_p.S879S|PCDHA1_ENST00000394633.3_Silent_p.S615S|PCDHA6_ENST00000527624.1_Silent_p.S615S|PCDHA5_ENST00000529859.1_Silent_p.S865S|PCDHA10_ENST00000506939.2_Silent_p.S614S|PCDHA12_ENST00000398631.2_Silent_p.S870S|PCDHA13_ENST00000409494.1_Silent_p.S879S|PCDHA3_ENST00000522353.2_Silent_p.S879S|PCDHA2_ENST00000526136.1_Silent_p.S877S|PCDHA6_ENST00000529310.1_Silent_p.S879S|PCDHA4_ENST00000530339.1_Silent_p.S876S|PCDHA5_ENST00000529619.1_Silent_p.S865S	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	879	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S892S(1)|p.S879S(1)|p.S614S(1)|p.S936S(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAACAATCCGGTCCCGGTG	0.522																																					Melanoma(55;1800 1972 14909)											4	Substitution - coding silent(4)	ovary(4)	5											66	70	68					5																	140389306		2203	4300	6503	140369490	SO:0001819	synonymous_variant	56147			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2637C>T	5.37:g.140389306C>T			140369490	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.522	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		T	140389306	C	T	140389306	2	4	269	1	0	0	0	0	0	0	0	1	11519	639	23	1		1	PCDHA1	5	140389306	Silent	SNP	C	TCGA-24-2035-01A-01W-0722-08		140389306	40525954	16	15114											
CLINT1	9685	broad.mit.edu	37	5	157233043	157233043	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr5:157233043G>A	ENST00000411809.2	-	7	977	c.773C>T	c.(772-774)aCg>aTg	p.T258M	CLINT1_ENST00000523908.1_Missense_Mutation_p.T258M|CLINT1_ENST00000523094.1_Missense_Mutation_p.T240M|CLINT1_ENST00000530742.1_Missense_Mutation_p.T240M|CLINT1_ENST00000296951.5_Missense_Mutation_p.T240M	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	258					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.T240M(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGCTTTGTCGTCACAGTCTC	0.448																																					Colon(22;427 587 2170 6147 14291)											1	Substitution - Missense(1)	ovary(1)	5											229	224	226					5																	157233043		2100	4220	6320	157165621	SO:0001583	missense	9685			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.773C>T	5.37:g.157233043G>A	ENSP00000388340:p.Thr258Met		157165621	B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758259	0.89843	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.51325	0.72;0.72;0.72;0.72;0.71	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.989	T	0.65656	-0.6115	10	0.45353	T	0.12	-4.9873	19.6668	0.95895	0.0:0.0:1.0:0.0	.	258;258	B7Z6F8;Q14677	.;EPN4_HUMAN	M	240;240;258;240;258	ENSP00000429345:T240M;ENSP00000433419:T240M;ENSP00000388340:T258M;ENSP00000296951:T240M;ENSP00000429824:T258M	ENSP00000296951:T240M	T	-	2	0	CLINT1	157165621	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.824000	0.99380	2.652000	0.90054	0.552000	0.68991	ACG		0.448	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		A	157233043	G	A	157233043	3	1	269	1	0	0	0	0	1	0	0	0	3531	1145	40	1	1128	1	CLINT1	5	157233043	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	16843737	157233043	23682217	17	15115											
EXOC2	55770	broad.mit.edu	37	6	572577	572577	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr6:572577C>A	ENST00000230449.4	-	13	1521	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H	EXOC2_ENST00000448181.3_Missense_Mutation_p.Q57H	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	462					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q462H(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AGTTAGGCAGCTGGCTCAAGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	6											105	97	99					6																	572577		2203	4300	6503	517577	SO:0001583	missense	55770			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1386G>T	6.37:g.572577C>A	ENSP00000230449:p.Gln462His		517577	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516971	0.64634	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.41758	0.99	4.85	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	L	0.58810	1.83	0.80722	D	1	B	0.30973	0.302	B	0.23275	0.045	T	0.05402	-1.0887	10	0.12430	T	0.62	-10.612	11.8535	0.52425	0.0:0.8508:0.0:0.1492	.	462	Q96KP1	EXOC2_HUMAN	H	462;57	ENSP00000230449:Q462H	ENSP00000230449:Q462H	Q	-	3	2	EXOC2	517577	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.943000	0.40253	1.159000	0.42565	0.563000	0.77884	CAG		0.468	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		A	572577	C	A	572577	3	1	269	1	0	0	0	0	1	0	0	0	5302	796	28	3	1452	3	EXOC2	6	572577	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08		572577	170542490	18	15116											
TFAP2D	83741	broad.mit.edu	37	6	50697018	50697018	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr6:50697018G>C	ENST00000008391.3	+	5	1104	c.876G>C	c.(874-876)ttG>ttC	p.L292F	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.L292F(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTACTTCCTTGGTTGAAGGTA	0.423																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	6											150	134	139					6																	50697018		2203	4300	6503	50804977	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.876G>C	6.37:g.50697018G>C	ENSP00000008391:p.Leu292Phe		50804977		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306203	0.60305	.	.	ENSG00000008197	ENST00000008391	D	0.98192	-4.78	6.08	2.49	0.30216	Transcription factor AP-2, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.98479	0.9493	M	0.90595	3.13	0.80722	D	1	D	0.64830	0.994	D	0.66847	0.947	D	0.98298	1.0517	10	0.87932	D	0	-23.4602	8.5385	0.33377	0.5468:0.0:0.4532:0.0	.	292	Q7Z6R9	AP2D_HUMAN	F	292	ENSP00000008391:L292F	ENSP00000008391:L292F	L	+	3	2	TFAP2D	50804977	1.000000	0.71417	0.991000	0.47740	0.824000	0.46624	1.379000	0.34340	0.201000	0.20466	-0.469000	0.05056	TTG		0.423	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		C	50697018	G	C	50697018	3	2	269	1	0	0	0	0	1	0	0	0	15790	1339	47	3	894	3	TFAP2D	6	50697018	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	50124441	50697018	120418049	19	15117											
TINAG	27283	broad.mit.edu	37	6	54214665	54214665	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr6:54214665T>G	ENST00000259782.4	+	7	1147	c.1051T>G	c.(1051-1053)Tgt>Ggt	p.C351G		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	351					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.C351G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATCTATCAATGTTCTCCTCC	0.423																																																1	Substitution - Missense(1)	ovary(1)	6											119	113	115					6																	54214665		2203	4300	6503	54322624	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1051T>G	6.37:g.54214665T>G	ENSP00000259782:p.Cys351Gly		54322624	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983490	0.74474	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.86694	-2.16	5.87	5.87	0.94306	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.75895	0.3912	N	0.03999	-0.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77043	-0.2734	10	0.05833	T	0.94	.	14.2294	0.65882	0.0:0.0:0.0:1.0	.	351	Q9UJW2	TINAG_HUMAN	G	210;351;30	ENSP00000259782:C351G	ENSP00000259782:C351G	C	+	1	0	TINAG	54322624	1.000000	0.71417	0.919000	0.36401	0.923000	0.55619	6.594000	0.74104	2.247000	0.74100	0.482000	0.46254	TGT		0.423	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		G	54214665	T	G	54214665	3	3	269	1	0	0	0	0	1	0	0	0	15921	1464	51	5	1077	5	TINAG	6	54214665	Missense_Mutation	SNP	T	TCGA-24-2035-01A-01W-0722-08	3517647	54214665	116900402	20	15118											
DGKB	1607	broad.mit.edu	37	7	14647109	14647109	+	Silent	SNP	T	T	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr7:14647109T>C	ENST00000403951.2	-	17	1805	c.1386A>G	c.(1384-1386)ctA>ctG	p.L462L	DGKB_ENST00000407950.1_Silent_p.L454L|DGKB_ENST00000258767.5_Silent_p.L462L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Silent_p.L443L|DGKB_ENST00000406247.3_Silent_p.L462L|DGKB_ENST00000402815.1_Silent_p.L461L|DGKB_ENST00000399322.3_Silent_p.L462L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	462	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.L462L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GAGGATTTAATAGATACTGGA	0.289																																																1	Substitution - coding silent(1)	ovary(1)	7											48	46	47					7																	14647109		1783	4048	5831	14613634	SO:0001819	synonymous_variant	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1386A>G	7.37:g.14647109T>C			14613634	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	CCDS47547.1																																																																																				0.289	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		C	14647109	T	C	14647109	2	2	269	1	0	0	0	0	0	0	0	1	4466	1393	49	4		4	DGKB	7	14647109	Silent	SNP	T	TCGA-24-2035-01A-01W-0722-08		14647109	144491554	21	15119											
MUC17	140453	broad.mit.edu	37	7	100680242	100680242	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr7:100680242C>G	ENST00000306151.4	+	3	5609	c.5545C>G	c.(5545-5547)Cct>Gct	p.P1849A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1849	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P1849A(1)|p.P1849S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACACCTGC	0.507																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	7											187	195	192					7																	100680242		2203	4300	6503	100466962	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5545C>G	7.37:g.100680242C>G	ENSP00000302716:p.Pro1849Ala		100466962	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.209	-1.038003	0.02013	.	.	ENSG00000169876	ENST00000306151	T	0.03124	4.04	0.824	-0.342	0.12635	.	.	.	.	.	T	0.01661	0.0053	N	0.19112	0.55	0.09310	N	1	B	0.31837	0.342	B	0.22601	0.04	T	0.43491	-0.9388	9	0.07482	T	0.82	.	1.9183	0.03302	0.3058:0.4521:0.0:0.2421	.	1849	Q685J3	MUC17_HUMAN	A	1849	ENSP00000302716:P1849A	ENSP00000302716:P1849A	P	+	1	0	MUC17	100466962	0.000000	0.05858	0.005000	0.12908	0.041000	0.13682	-5.003000	0.00161	-0.081000	0.12662	0.134000	0.15878	CCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100680242	C	G	100680242	3	3	269	1	0	0	0	0	1	0	0	0	9974	855	30	3	5555	3	MUC17	7	100680242	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	86033133	100680242	58458421	22	15120											
SRPK2	6733	broad.mit.edu	37	7	104783613	104783613	+	Missense_Mutation	SNP	C	C	G	rs372166705		TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr7:104783613C>G	ENST00000393651.3	-	10	1065	c.978G>C	c.(976-978)caG>caC	p.Q326H	SRPK2_ENST00000357311.3_Missense_Mutation_p.Q315H|SRPK2_ENST00000489828.1_Missense_Mutation_p.Q315H	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.Q315H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTCGCCATCCTGGTCATTGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	7						C	HIS/GLN,HIS/GLN	0,4406		0,0,2203	138	125	129		945,978	-3.1	0.9	7		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SRPK2	NM_182691.1,NM_182692.1	24,24	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	315/689,326/700	104783613	1,13005	2203	4300	6503	104570849	SO:0001583	missense	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.978G>C	7.37:g.104783613C>G	ENSP00000377262:p.Gln326His		104570849		Missense_Mutation	SNP	ENST00000393651.3	37	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478522	0.63849	0.0	1.16E-4	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.22134	1.97;1.97;1.97	5.68	-3.08	0.05347	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.376195	0.27966	N	0.017138	T	0.30510	0.0767	L	0.38175	1.15	0.51482	D	0.999921	D;D	0.60575	0.988;0.98	D;D	0.74674	0.984;0.948	T	0.01301	-1.1391	10	0.52906	T	0.07	-19.1206	14.1006	0.65051	0.0:0.5983:0.0:0.4017	.	326;315	P78362-2;P78362	.;SRPK2_HUMAN	H	326;315;315	ENSP00000377262:Q326H;ENSP00000349863:Q315H;ENSP00000419791:Q315H	ENSP00000349863:Q315H	Q	-	3	2	SRPK2	104570849	0.063000	0.20901	0.867000	0.34043	0.857000	0.48899	-0.901000	0.04093	-0.497000	0.06641	0.555000	0.69702	CAG		0.488	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		G	104783613	C	G	104783613	3	3	269	1	0	0	0	0	1	0	0	0	15162	680	24	3	1149	3	SRPK2	7	104783613	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	4103371	104783613	54355050	23	15121											
TUSC3	7991	broad.mit.edu	37	8	15588173	15588173	+	Splice_Site	SNP	A	A	G			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr8:15588173A>G	ENST00000503731.1	+	7	946		c.e7-1		TUSC3_ENST00000382020.4_Splice_Site|TUSC3_ENST00000509380.1_Splice_Site|TUSC3_ENST00000506802.1_Splice_Site	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3						cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTTCTTTTATAGAGCTACATT	0.353																																																1	Unknown(1)	ovary(1)	8											77	75	76					8																	15588173		2203	4299	6502	15632544	SO:0001630	splice_region_variant	7991			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.799-1A>G	8.37:g.15588173A>G			15632544	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Splice_Site	SNP	ENST00000503731.1	37	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174857	0.57692	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0696	0.64852	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TUSC3	15632544	1.000000	0.71417	0.915000	0.36163	0.658000	0.38924	8.025000	0.88777	2.085000	0.62840	0.482000	0.46254	.		0.353	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	Intron	G	15588173	A	G	15588173	5	3	269	1	0	0	0	0	0	0	1	0	16778	434	15	4	823	4	TUSC3	8	15588173	Splice_Site	SNP	A	TCGA-24-2035-01A-01W-0722-08		15588173	130775849	24	15122											
SNTG1	54212	broad.mit.edu	37	8	51363273	51363273	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr8:51363273G>A	ENST00000522124.1	+	8	1008	c.347G>A	c.(346-348)tGt>tAt	p.C116Y	SNTG1_ENST00000276467.5_Missense_Mutation_p.C116Y|SNTG1_ENST00000518864.1_Missense_Mutation_p.C116Y|SNTG1_ENST00000517473.1_Missense_Mutation_p.C116Y	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	116	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.C116Y(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTGAGAAAATGTAGACATGAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	8											142	134	137					8																	51363273		2203	4299	6502	51525826	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.347G>A	8.37:g.51363273G>A	ENSP00000429842:p.Cys116Tyr		51525826	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435937	0.43224	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.044653	0.85682	D	0.000000	T	0.17619	0.0423	N	0.11201	0.11	0.58432	D	0.999995	B;B	0.09022	0.002;0.001	B;B	0.16289	0.015;0.005	T	0.04737	-1.0930	10	0.59425	D	0.04	.	17.1564	0.86792	0.0:0.0:1.0:0.0	.	116;116	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	Y	116	ENSP00000429276:C116Y;ENSP00000429842:C116Y;ENSP00000431123:C116Y;ENSP00000276467:C116Y	ENSP00000276467:C116Y	C	+	2	0	SNTG1	51525826	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.465000	0.60141	2.643000	0.89663	0.655000	0.94253	TGT		0.333	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			A	51363273	G	A	51363273	3	1	269	1	0	0	0	0	1	0	0	0	14877	1377	48	2	369	2	SNTG1	8	51363273	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	35775100	51363273	95000749	25	15123											
CSMD3	114788	broad.mit.edu	37	8	113418909	113418909	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr8:113418909T>A	ENST00000297405.5	-	35	5897	c.5653A>T	c.(5653-5655)Aga>Tga	p.R1885*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R1815*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R1781*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R1845*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1885	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1885*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTCCGAATCTTGGTTCAGGC	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Nonsense(1)	ovary(1)	8											101	97	98					8																	113418909		2203	4300	6503	113488085	SO:0001587	stop_gained	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5653A>T	8.37:g.113418909T>A	ENSP00000297405:p.Arg1885*		113488085	Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	47	13.206879	0.99727	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	11.2483	0.49010	0.0:0.0:0.1528:0.8472	.	.	.	.	X	1845;1885;1155;1781;1815	.	ENSP00000297405:R1885X	R	-	1	2	CSMD3	113488085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.203000	0.58453	2.081000	0.62600	0.533000	0.62120	AGA		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113418909	T	A	113418909	4	1	269	1	0	0	0	0	0	1	0	0	3946	1617	56	5	5618	5	CSMD3	8	113418909	Nonsense_Mutation	SNP	T	TCGA-24-2035-01A-01W-0722-08	62055636	113418909	32945113	26	15124											
COLEC10	10584	broad.mit.edu	37	8	120118245	120118245	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr8:120118245G>C	ENST00000332843.2	+	6	690	c.649G>C	c.(649-651)Gag>Cag	p.E217Q		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	217	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.E217Q(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CCTTGAAAGGGAGGGACAGTA	0.517																																																1	Substitution - Missense(1)	ovary(1)	8											124	109	114					8																	120118245		2203	4300	6503	120187426	SO:0001583	missense	10584			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.649G>C	8.37:g.120118245G>C	ENSP00000332723:p.Glu217Gln		120187426	Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369735	0.82573	.	.	ENSG00000184374	ENST00000332843	T	0.20200	2.09	5.21	5.21	0.72293	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.224064	0.41938	D	0.000796	T	0.56514	0.1990	M	0.91510	3.215	0.52501	D	0.999953	D	0.71674	0.998	D	0.69307	0.963	T	0.67393	-0.5682	10	0.87932	D	0	-30.7506	19.1165	0.93343	0.0:0.0:1.0:0.0	.	217	Q9Y6Z7	COL10_HUMAN	Q	217	ENSP00000332723:E217Q	ENSP00000332723:E217Q	E	+	1	0	COLEC10	120187426	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.427000	0.97472	2.590000	0.87494	0.555000	0.69702	GAG		0.517	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			C	120118245	G	C	120118245	3	2	269	1	0	0	0	0	1	0	0	0	3710	1175	41	3	671	3	COLEC10	8	120118245	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	6699336	120118245	26245777	27	15125											
COL14A1	7373	broad.mit.edu	37	8	121243733	121243733	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr8:121243733T>C	ENST00000297848.3	+	19	2495	c.2225T>C	c.(2224-2226)gTt>gCt	p.V742A	COL14A1_ENST00000247781.3_Missense_Mutation_p.V647A|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V742A	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.V742A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGAAACCTAGTTGTAGGTGAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	8											110	102	105					8																	121243733		2203	4300	6503	121312914	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2225T>C	8.37:g.121243733T>C	ENSP00000297848:p.Val742Ala		121312914		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866210	0.32977	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.55	4.39	0.52855	Fibronectin, type III (4);	0.432569	0.24431	N	0.038597	T	0.40862	0.1134	L	0.46947	1.48	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.17410	-1.0370	10	0.07990	T	0.79	.	10.5058	0.44832	0.0:0.0774:0.0:0.9226	.	742;742	Q05707-2;Q05707	.;COEA1_HUMAN	A	742;742;647;555	ENSP00000311809:V742A;ENSP00000297848:V742A;ENSP00000247781:V647A;ENSP00000409461:V555A	ENSP00000247781:V647A	V	+	2	0	COL14A1	121312914	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.490000	0.45294	0.949000	0.37715	0.459000	0.35465	GTT		0.418	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		C	121243733	T	C	121243733	3	2	269	1	0	0	0	0	1	0	0	0	3671	1725	60	4	2295	4	COL14A1	8	121243733	Missense_Mutation	SNP	T	TCGA-24-2035-01A-01W-0722-08	1125488	121243733	25120289	28	15126											
ZHX2	22882	broad.mit.edu	37	8	123965552	123965552	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr8:123965552G>C	ENST00000314393.4	+	3	2637	c.1802G>C	c.(1801-1803)gGc>gCc	p.G601A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	601					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G601A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGCAAAAAAGGCCAAGATGTG	0.567																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)											1	Substitution - Missense(1)	ovary(1)	8											63	63	63					8																	123965552		2203	4300	6503	124034733	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1802G>C	8.37:g.123965552G>C	ENSP00000314709:p.Gly601Ala		124034733		Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.411282	0.01145	.	.	ENSG00000178764	ENST00000314393	T	0.16324	2.35	5.41	2.52	0.30459	Homeodomain-like (1);	0.566874	0.18740	N	0.132473	T	0.07863	0.0197	N	0.24115	0.695	0.09310	N	0.999992	B	0.02656	0.0	B	0.06405	0.002	T	0.34775	-0.9815	10	0.10636	T	0.68	-14.9022	2.0877	0.03650	0.1397:0.1326:0.4224:0.3054	.	601	Q9Y6X8	ZHX2_HUMAN	A	601	ENSP00000314709:G601A	ENSP00000314709:G601A	G	+	2	0	ZHX2	124034733	0.004000	0.15560	0.804000	0.32291	0.173000	0.22820	0.400000	0.20932	0.801000	0.34066	0.561000	0.74099	GGC		0.567	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		C	123965552	G	C	123965552	3	2	269	1	0	0	0	0	1	0	0	0	17676	1203	42	3	1804	3	ZHX2	8	123965552	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	2721819	123965552	22398470	29	15127											
PTK2	5747	broad.mit.edu	37	8	141771320	141771320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr8:141771320G>A	ENST00000522684.1	-	16	1505	c.1276C>T	c.(1276-1278)Cga>Tga	p.R426*	PTK2_ENST00000520151.1_Nonsense_Mutation_p.R54*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.R426*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.R470*|PTK2_ENST00000395218.2_Nonsense_Mutation_p.R426*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.R470*|PTK2_ENST00000538769.1_Nonsense_Mutation_p.R94*|PTK2_ENST00000519465.1_Nonsense_Mutation_p.R54*|PTK2_ENST00000535192.1_Nonsense_Mutation_p.R426*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.R426*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	426	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.R448*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCAATACATCGTCCAAGTTCT	0.323																																																1	Substitution - Nonsense(1)	ovary(1)	8											242	221	228					8																	141771320		2203	4299	6502	141840502	SO:0001587	stop_gained	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1276C>T	8.37:g.141771320G>A	ENSP00000429911:p.Arg426*		141840502	B4E2N6|F5H4S4|Q14291|Q9UD85	Nonsense_Mutation	SNP	ENST00000522684.1	37	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.805395|5.805395	0.96967|0.96967	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207;ENST00000519024|ENST00000519654	.|.	.|.	.|.	5.33|5.33	4.45|4.45	0.53987|0.53987	.|.	0.082096|.	0.64402|.	D|.	0.000001|.	.|T	.|0.71307	.|0.3324	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75127	.|-0.3427	.|3	0.05620|.	T|.	0.96|.	.|.	16.2487|16.2487	0.82472|0.82472	0.0:0.0:0.866:0.134|0.0:0.0:0.866:0.134	.|.	.|.	.|.	.|.	X|M	426;426;54;470;426;378;426;347;121;98;426;94;470;124;244;61|436	.|.	ENSP00000341189:R426X|.	R|T	-|-	1|2	2|0	PTK2|PTK2	141840502|141840502	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	8.669000|8.669000	0.91163|0.91163	1.554000|1.554000	0.49487|0.49487	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.323	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		A	141771320	G	A	141771320	4	1	269	1	0	0	0	0	0	1	0	0	12765	1153	40	1	1950	1	PTK2	8	141771320	Nonsense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	17805768	141771320	4592702	30	15128											
CNTFR	1271	broad.mit.edu	37	9	34557627	34557627	+	Silent	SNP	G	G	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr9:34557627G>T	ENST00000378980.3	-	6	794	c.501C>A	c.(499-501)cgC>cgA	p.R167R	CNTFR_ENST00000351266.4_Silent_p.R167R	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	167	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.R167R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GGTGCATGTAGCGAATGTGGC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	9											181	147	158					9																	34557627		2203	4300	6503	34547627	SO:0001819	synonymous_variant	1271			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.501C>A	9.37:g.34557627G>T			34547627	Q5U050	Silent	SNP	ENST00000378980.3	37	CCDS6558.1																																																																																				0.527	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			T	34557627	G	T	34557627	2	4	269	1	0	0	0	0	0	0	0	1	3638	958	34	3		3	CNTFR	9	34557627	Silent	SNP	G	TCGA-24-2035-01A-01W-0722-08		34557627	106655804	31	15129											
SUSD3	203328	broad.mit.edu	37	9	95838102	95838102	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr9:95838102C>A	ENST00000375472.3	+	2	161	c.125C>A	c.(124-126)aCc>aAc	p.T42N	SUSD3_ENST00000375469.1_Missense_Mutation_p.T29N	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	42	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T42N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCGCAAGCAACCTTCCAAGTC	0.677																																																1	Substitution - Missense(1)	ovary(1)	9											81	64	69					9																	95838102		2203	4300	6503	94877923	SO:0001583	missense	203328			AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.125C>A	9.37:g.95838102C>A	ENSP00000364621:p.Thr42Asn		94877923	Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911080	0.72983	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.64260	-0.09;-0.09	5.25	5.25	0.73442	Complement control module (2);Sushi/SCR/CCP (3);	0.286347	0.38837	N	0.001558	T	0.78130	0.4235	M	0.71581	2.175	0.54753	D	0.999988	D;D	0.76494	0.999;0.999	D;D	0.73708	0.967;0.981	T	0.79885	-0.1614	10	0.66056	D	0.02	-30.2645	16.7144	0.85394	0.0:1.0:0.0:0.0	.	29;42	Q96L08-2;Q96L08	.;SUSD3_HUMAN	N	42;29	ENSP00000364621:T42N;ENSP00000364618:T29N	ENSP00000364618:T29N	T	+	2	0	SUSD3	94877923	0.061000	0.20836	0.099000	0.21106	0.537000	0.34900	1.644000	0.37228	2.628000	0.89032	0.561000	0.74099	ACC		0.677	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		A	95838102	C	A	95838102	3	1	269	1	0	0	0	0	1	0	0	0	15409	507	18	3	131	3	SUSD3	9	95838102	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	61280475	95838102	45375329	32	15130											
LAMC3	10319	broad.mit.edu	37	9	133954633	133954633	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr9:133954633C>A	ENST00000361069.4	+	23	4008	c.3875C>A	c.(3874-3876)aCc>aAc	p.T1292N	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1292	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.T1292N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCTGCCCGAACCCTCCAGACT	0.612																																																1	Substitution - Missense(1)	ovary(1)	9											52	45	47					9																	133954633		2203	4300	6503	132944454	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3875C>A	9.37:g.133954633C>A	ENSP00000354360:p.Thr1292Asn		132944454	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.02|11.02	1.517272|1.517272	0.27123|0.27123	.|.	.|.	ENSG00000050555|ENSG00000050555	ENST00000355452|ENST00000361069;ENST00000355048	.|T	.|0.27104	.|1.69	4.24|4.24	1.88|1.88	0.25563|0.25563	.|.	.|0.787541	.|0.11663	.|N	.|0.541593	T|T	0.16428|0.16428	0.0395|0.0395	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.29037	.|0.231;0.001	.|B;B	.|0.22601	.|0.04;0.003	T|T	0.20273|0.20273	-1.0280|-1.0280	5|10	.|0.35671	.|T	.|0.21	.|.	4.5409|4.5409	0.12056|0.12056	0.3341:0.5555:0.0:0.1104|0.3341:0.5555:0.0:0.1104	.|.	.|1;1292	.|Q9UF61;Q9Y6N6	.|.;LAMC3_HUMAN	T|N	2|1292	.|ENSP00000354360:T1292N	.|ENSP00000347156:T1292N	P|T	+|+	1|2	0|0	LAMC3|LAMC3	132944454|132944454	0.004000|0.004000	0.15560|0.15560	0.082000|0.082000	0.20525|0.20525	0.006000|0.006000	0.05464|0.05464	0.390000|0.390000	0.20768|0.20768	0.533000|0.533000	0.28675|0.28675	0.561000|0.561000	0.74099|0.74099	CCC|ACC		0.612	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133954633	C	A	133954633	3	1	269	1	0	0	0	0	1	0	0	0	8616	507	18	3	3965	3	LAMC3	9	133954633	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	38116531	133954633	7258798	33	15131											
C9orf171	389799	broad.mit.edu	37	9	135418390	135418390	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr9:135418390C>A	ENST00000343036.2	+	6	844	c.796C>A	c.(796-798)Ccc>Acc	p.P266T	C9orf171_ENST00000393216.2_Missense_Mutation_p.P230T	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	266								p.P266T(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GTACAAGCCGCCCGTGAAGCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	9											156	137	143					9																	135418390		2203	4300	6503	134408211	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.796C>A	9.37:g.135418390C>A	ENSP00000343290:p.Pro266Thr		134408211	Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600374	0.28534	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.22743	1.94;1.94	4.96	4.96	0.65561	.	0.170785	0.39834	N	0.001258	T	0.21761	0.0524	L	0.59436	1.845	0.36806	D	0.885629	B;P	0.35793	0.328;0.521	B;B	0.30105	0.085;0.111	T	0.17440	-1.0369	10	0.40728	T	0.16	.	15.3703	0.74557	0.0:1.0:0.0:0.0	.	230;266	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	T	266;230	ENSP00000343290:P266T;ENSP00000376909:P230T	ENSP00000343290:P266T	P	+	1	0	C9orf171	134408211	0.192000	0.23301	0.859000	0.33776	0.177000	0.22998	2.185000	0.42584	2.292000	0.77174	0.655000	0.94253	CCC		0.597	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		A	135418390	C	A	135418390	3	1	269	1	0	0	0	0	1	0	0	0	2470	739	26	3	818	3	C9orf171	9	135418390	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	1463757	135418390	5795041	34	15132											
CAMSAP1	157922	broad.mit.edu	37	9	138713707	138713707	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr9:138713707G>A	ENST00000389532.4	-	11	2864	c.2800C>T	c.(2800-2802)Cac>Tac	p.H934Y	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.H945Y|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.H656Y	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	934					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.H934Y(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TTTGCAAAGTGCTCCGGCCTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	9											92	101	98					9																	138713707		2203	4300	6503	137853528	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2800C>T	9.37:g.138713707G>A	ENSP00000374183:p.His934Tyr		137853528	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052555	0.01981	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15256	2.44;2.44;2.44	5.11	3.27	0.37495	.	0.100935	0.43747	D	0.000528	T	0.17577	0.0422	M	0.67953	2.075	0.09310	N	1	P;B	0.50528	0.936;0.264	B;B	0.37943	0.261;0.142	T	0.14811	-1.0459	10	0.87932	D	0	-3.5873	10.7895	0.46424	0.0713:0.1318:0.7969:0.0	.	934;945	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Y	934;656;945	ENSP00000374183:H934Y;ENSP00000312463:H656Y;ENSP00000386420:H945Y	ENSP00000312463:H656Y	H	-	1	0	CAMSAP1	137853528	0.214000	0.23563	0.000000	0.03702	0.001000	0.01503	1.653000	0.37323	0.674000	0.31244	0.655000	0.94253	CAC		0.607	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		A	138713707	G	A	138713707	3	1	269	1	0	0	0	0	1	0	0	0	2611	1319	46	2	2036	2	CAMSAP1	9	138713707	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	3295317	138713707	2499724	35	15133											
HKDC1	80201	broad.mit.edu	37	10	71025400	71025400	+	Missense_Mutation	SNP	C	C	G	rs556646884	byFrequency	TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr10:71025400C>G	ENST00000354624.5	+	17	2565	c.2432C>G	c.(2431-2433)aCg>aGg	p.T811R	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	811	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.T811R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGGACAGCACGTGTGAGGAC	0.647																																																1	Substitution - Missense(1)	ovary(1)	10											69	65	66					10																	71025400		2203	4300	6503	70695406	SO:0001583	missense	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2432C>G	10.37:g.71025400C>G	ENSP00000346643:p.Thr811Arg		70695406	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948515	0.73787	.	.	ENSG00000156510	ENST00000354624	D	0.97620	-4.46	4.76	4.76	0.60689	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99039	0.9671	H	0.96662	3.86	0.80722	D	1	D	0.54964	0.969	D	0.74023	0.982	D	0.99164	1.0862	10	0.87932	D	0	-15.7186	18.3181	0.90227	0.0:1.0:0.0:0.0	.	811	Q2TB90	HKDC1_HUMAN	R	811	ENSP00000346643:T811R	ENSP00000346643:T811R	T	+	2	0	HKDC1	70695406	1.000000	0.71417	0.957000	0.39632	0.684000	0.39900	5.883000	0.69721	2.626000	0.88956	0.563000	0.77884	ACG		0.647	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		G	71025400	C	G	71025400	3	3	269	1	0	0	0	0	1	0	0	0	7193	536	19	3	2498	3	HKDC1	10	71025400	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08		71025400	64509347	36	15134											
TIAL1	7073	broad.mit.edu	37	10	121341479	121341479	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr10:121341479G>A	ENST00000436547.2	-	5	370	c.326C>T	c.(325-327)aCa>aTa	p.T109I	TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000369093.2_Missense_Mutation_p.T126I	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	109	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T126I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		ATCTTCTGTTGTAATTTCTGG	0.348																																																1	Substitution - Missense(1)	ovary(1)	10											90	91	91					10																	121341479		2203	4300	6503	121331469	SO:0001583	missense	7073			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"RNA binding motif (RRM) containing"	11804	protein-coding gene	gene with protein product		603413	"TIA1 cytotoxic granule-associated RNA-binding protein-like 1"			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.326C>T	10.37:g.121341479G>A	ENSP00000394902:p.Thr109Ile		121331469	A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499884	0.64298	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.80393	1.79;-1.37;1.79;1.79	6.06	6.06	0.98353	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044877	0.85682	D	0.000000	D	0.91808	0.7408	M	0.88906	2.99	0.80722	D	1	P;D	0.58970	0.879;0.984	P;D	0.70227	0.886;0.968	D	0.91852	0.5492	10	0.66056	D	0.02	-17.9068	20.6397	0.99537	0.0:0.0:1.0:0.0	.	126;109	A8K4L9;Q01085	.;TIAR_HUMAN	I	126;109;70;70	ENSP00000358089:T126I;ENSP00000394902:T109I;ENSP00000403573:T70I;ENSP00000358082:T70I	ENSP00000358082:T70I	T	-	2	0	TIAL1	121331469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.737000	0.98831	2.880000	0.98712	0.650000	0.86243	ACA		0.348	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		A	121341479	G	A	121341479	3	1	269	1	0	0	0	0	1	0	0	0	15889	1377	48	2	833	2	TIAL1	10	121341479	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	50316079	121341479	14193268	37	15135											
OR52N2	390077	broad.mit.edu	37	11	5841721	5841756	+	In_Frame_Del	DEL	CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	-	rs371684747|rs369345504|rs73394373|rs541807315	byFrequency	TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	-	-	CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr11:5841721_5841756delCCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	ENST00000317037.2	+	1	178_213	c.156_191delCCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	c.(154-192)agccatgaggaggccctgcaccggcccatgtactacttc>agc	p.HEEALHRPMYYF53del	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A56T(1)|p.R59R(1)|p.H53_F64del(1)|p.R59G(1)|p.L57L(1)|p.A56V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCATCAGCCATGAGGAGGCCCTGCACCGGCCCATGTACTACTTCCTGGCCCTG	0.521																																																6	Substitution - Missense(3)|Substitution - coding silent(2)|Deletion - In frame(1)	large_intestine(1)|stomach(1)|lung(1)|skin(1)|ovary(1)|kidney(1)	11																																								5798332	SO:0001651	inframe_deletion	390077			AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.156_191delCCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	11.37:g.5841721_5841756delCCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	ENSP00000322801:p.His53_Phe64del		5798297	Q6IFF9	In_Frame_Del	DEL	ENST00000317037.2	37	CCDS31399.1																																																																																				0.521	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		-	5841756	CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	-	5841721	7	5	269	1	0	1	0	1	0	0	0	0	11128	738	26	0	158	0	OR52N2	11	5841721	In_Frame_Del	DEL	CCATGAGGAGGCCCTGCACCGGCCCATGTACTACTT	TCGA-24-2035-01A-01W-0722-08		5841721	129164795	38	15136											
NEU3	10825	broad.mit.edu	37	11	74717460	74717460	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr11:74717460C>T	ENST00000544263.1	+	4	1380	c.1210C>T	c.(1210-1212)Cac>Tac	p.H404Y	NEU3_ENST00000545272.1_Missense_Mutation_p.H328Y|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000294064.4_Missense_Mutation_p.H437Y|NEU3_ENST00000531509.1_Missense_Mutation_p.H437Y|NEU3_ENST00000532963.1_3'UTR			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	404					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.H437Y(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CCTGTTTACACACCGGGAGAT	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											97	103	101					11																	74717460		2024	4179	6203	74395108	SO:0001583	missense	10825			AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.1210C>T	11.37:g.74717460C>T	ENSP00000445591:p.His404Tyr		74395108	A8K327|Q9NQE1	Missense_Mutation	SNP	ENST00000544263.1	37		.	.	.	.	.	.	.	.	.	.	C	2.278	-0.365485	0.05069	.	.	ENSG00000162139	ENST00000294064;ENST00000531509;ENST00000544263;ENST00000545272	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.16	-1.33	0.09172	Neuraminidase (2);	0.701145	0.14810	N	0.297088	T	0.58807	0.2148	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.43327	-0.9398	10	0.35671	T	0.21	-2.9756	2.2115	0.03949	0.2244:0.3802:0.2675:0.1279	.	404;437	Q9UQ49;A8K327	NEUR3_HUMAN;.	Y	437;437;404;328	ENSP00000294064:H437Y;ENSP00000432097:H437Y;ENSP00000445591:H404Y;ENSP00000439908:H328Y	ENSP00000294064:H437Y	H	+	1	0	NEU3	74395108	0.004000	0.15560	0.060000	0.19600	0.120000	0.20174	-0.142000	0.10311	-0.417000	0.07461	-2.232000	0.00291	CAC		0.522	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656		T	74717460	C	T	74717460	3	4	269	1	0	0	0	0	1	0	0	0	10343	478	17	2	1319	2	NEU3	11	74717460	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	68875739	74717460	60289056	39	15137											
NPAT	4863	broad.mit.edu	37	11	108044483	108044483	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr11:108044483G>C	ENST00000278612.8	-	13	1333	c.1228C>G	c.(1228-1230)Caa>Gaa	p.Q410E	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	410					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q410E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGTCTTCTTGTCTAAGCACA	0.403																																																1	Substitution - Missense(1)	ovary(1)	11											135	122	126					11																	108044483		1861	4099	5960	107549693	SO:0001583	missense	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1228C>G	11.37:g.108044483G>C	ENSP00000278612:p.Gln410Glu		107549693	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	5.844	0.339890	0.11069	.	.	ENSG00000149308	ENST00000278612	T	0.04049	3.72	5.54	5.54	0.83059	.	0.640477	0.15914	N	0.238480	T	0.06645	0.0170	L	0.60455	1.87	0.09310	N	1	B;B	0.22683	0.073;0.073	B;B	0.23852	0.049;0.049	T	0.41395	-0.9511	10	0.09338	T	0.73	-0.1733	12.4896	0.55893	0.0:0.0:0.8223:0.1777	.	410;410	B9EG70;Q14207	.;NPAT_HUMAN	E	410	ENSP00000278612:Q410E	ENSP00000278612:Q410E	Q	-	1	0	NPAT	107549693	0.374000	0.25081	0.083000	0.20561	0.287000	0.27160	3.113000	0.50376	2.765000	0.95021	0.557000	0.71058	CAA		0.403	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		C	108044483	G	C	108044483	3	2	269	1	0	0	0	0	1	0	0	0	10566	1386	48	3	3079	3	NPAT	11	108044483	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	33327023	108044483	26962033	40	15138											
OR8G2	0	broad.mit.edu	37	11	124096009	124096009	+	IGR	SNP	C	C	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr11:124096009C>A								OR10D3 (39057 upstream) : OR8G1 (24413 downstream)																							CCTGCTCCAGCACCTACATCA	0.428																																																0			11											141	147	145					11																	124096009		1988	4196	6184	123601219	SO:0001628	intergenic_variant	26492																															11.37:g.124096009C>A			123601219		Missense_Mutation	SNP		37																																																																																				0	0.428									A	124096009	C	A	124096009	1	1	269	0	1	0	0	0	0	0	0	0	11235	709	25	3		3	OR8G2	11	124096009	IGR	SNP	C	TCGA-24-2035-01A-01W-0722-08	16051526	124096009	10910507	41	15139											
ALG10B	144245	broad.mit.edu	37	12	38714340	38714340	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr12:38714340G>A	ENST00000308742.4	+	3	1063	c.747G>A	c.(745-747)atG>atA	p.M249I	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	249					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.M249I(2)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACTTGAGTATGCTTTTCTGTT	0.378																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	12											258	255	256					12																	38714340		2203	4300	6503	37000607	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.747G>A	12.37:g.38714340G>A	ENSP00000310120:p.Met249Ile		37000607	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	0.012	-1.652365	0.00785	.	.	ENSG00000175548	ENST00000308742	T	0.54479	0.57	3.23	3.23	0.37069	.	0.484707	0.25402	N	0.030926	T	0.32882	0.0844	N	0.12182	0.205	0.25942	N	0.982857	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.33141	T	0.24	.	12.7261	0.57173	0.0:0.0:1.0:0.0	.	249	Q5I7T1	AG10B_HUMAN	I	249	ENSP00000310120:M249I	ENSP00000310120:M249I	M	+	3	0	ALG10B	37000607	0.003000	0.15002	0.100000	0.21137	0.020000	0.10135	-0.108000	0.10857	2.103000	0.63969	0.643000	0.83706	ATG		0.378	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		A	38714340	G	A	38714340	3	1	269	1	0	0	0	0	1	0	0	0	512	1319	46	2	757	2	ALG10B	12	38714340	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08		38714340	95137555	42	15140											
KRT4	3851	broad.mit.edu	37	12	53201603	53201603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr12:53201603C>A	ENST00000551956.1	-	7	1663	c.1171G>T	c.(1171-1173)Gag>Tag	p.E391*	KRT4_ENST00000458244.2_Nonsense_Mutation_p.E371*|KRT4_ENST00000293774.4_Nonsense_Mutation_p.E465*			P19013	K2C4_HUMAN	keratin 4	405	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.E465*(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGGGCATTCTCACCTCGCTGC	0.572																																					Pancreas(190;284 2995 41444 45903)											1	Substitution - Nonsense(1)	ovary(1)	12											77	74	75					12																	53201603		2203	4300	6503	51487870	SO:0001587	stop_gained	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1171G>T	12.37:g.53201603C>A	ENSP00000448220:p.Glu391*		51487870	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Nonsense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	36	5.670897	0.96754	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	.	.	.	5.47	5.47	0.80525	.	0.136887	0.33792	N	0.004542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7084	0.96083	0.0:1.0:0.0:0.0	.	.	.	.	X	391;465;371	.	ENSP00000293774:E465X	E	-	1	0	KRT4	51487870	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	6.086000	0.71352	2.746000	0.94184	0.561000	0.74099	GAG		0.572	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		A	53201603	C	A	53201603	4	1	269	1	0	0	0	0	0	1	0	0	8477	835	29	3	403	3	KRT4	12	53201603	Nonsense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	14487263	53201603	80650292	43	15141											
DCTN2	10540	broad.mit.edu	37	12	57926548	57926548	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr12:57926548C>T	ENST00000548249.1	-	10	1087	c.820G>A	c.(820-822)Gca>Aca	p.A274T	DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000543672.1_Missense_Mutation_p.A279T|DCTN2_ENST00000537439.1_Missense_Mutation_p.A251T|DCTN2_ENST00000434715.3_Missense_Mutation_p.A279T	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	274					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.A279T(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TCCAAAACTGCAAGGTCTAGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											85	81	83					12																	57926548		1913	4134	6047	56212815	SO:0001583	missense	10540			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.820G>A	12.37:g.57926548C>T	ENSP00000447824:p.Ala274Thr		56212815	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438617	0.25900	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000550086	.	.	.	5.18	4.29	0.51040	.	0.106857	0.64402	N	0.000008	T	0.49966	0.1588	L	0.41824	1.3	0.54753	D	0.99998	B;B;B	0.17465	0.018;0.018;0.022	B;B;B	0.19946	0.016;0.016;0.027	T	0.41342	-0.9514	9	0.10636	T	0.68	-0.6016	12.8375	0.57782	0.0:0.9201:0.0:0.0799	.	274;279;274	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	T	274;279;279;251;274;187;115	.	ENSP00000346785:A274T	A	-	1	0	DCTN2	56212815	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.297000	0.59061	1.557000	0.49525	0.557000	0.71058	GCA		0.488	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		T	57926548	C	T	57926548	3	4	269	1	0	0	0	0	1	0	0	0	4307	710	25	2	405	2	DCTN2	12	57926548	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	4724945	57926548	75925347	44	15142											
LPAR6	10161	broad.mit.edu	37	13	48986285	48986285	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr13:48986285G>A	ENST00000378434.4	-	7	1899	c.275C>T	c.(274-276)tCt>tTt	p.S92F	LPAR6_ENST00000345941.2_Missense_Mutation_p.S92F|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)|p.S92F(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						CAGCATCACAGAAATCTTACA	0.358																																																20	Whole gene deletion(15)|Unknown(4)|Substitution - Missense(1)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	13											50	45	47					13																	48986285		2203	4300	6503	47884286	SO:0001583	missense	10161			AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	15520	protein-coding gene	gene with protein product		609239	"purinergic receptor P2Y, G-protein coupled, 5"	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.275C>T	13.37:g.48986285G>A	ENSP00000367691:p.Ser92Phe		47884286	A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952547	0.73787	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.36520	1.25;1.25	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	L	0.53561	1.675	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.49303	-0.8954	10	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	92	P43657	LPAR6_HUMAN	F	92	ENSP00000367691:S92F;ENSP00000344353:S92F	ENSP00000344353:S92F	S	-	2	0	LPAR6	47884286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.876000	0.87215	2.941000	0.99782	0.655000	0.94253	TCT		0.358	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		A	48986285	G	A	48986285	3	1	269	1	0	0	0	0	1	0	0	0	8909	942	33	2	763	2	LPAR6	13	48986285	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08		48986285	66183593	45	15143											
HERC1	8925	broad.mit.edu	37	15	64005761	64005761	+	Silent	SNP	A	A	G	rs201470593		TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr15:64005761A>G	ENST00000443617.2	-	23	4341	c.4254T>C	c.(4252-4254)ccT>ccC	p.P1418P	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1418					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P1418P(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGACTGAGGAGGTGGATCAT	0.562													A|||	1	0.000199681	0	0.0014	5008	,	,		17874	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	15											63	64	64					15																	64005761		2060	4217	6277	61792814	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4254T>C	15.37:g.64005761A>G			61792814	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.562	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		G	64005761	A	G	64005761	2	3	269	1	0	0	0	0	0	0	0	1	7057	291	11	4		4	HERC1	15	64005761	Silent	SNP	A	TCGA-24-2035-01A-01W-0722-08		64005761	38525631	46	15144											
NUBP1	4682	broad.mit.edu	37	16	10850620	10850620	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr16:10850620G>C	ENST00000283027.5	+	6	453	c.434G>C	c.(433-435)aGg>aCg	p.R145T	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.R134T	NM_002484.2	NP_002475.2			nucleotide binding protein 1									p.R145T(1)		large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						GTTATCTGGAGGGGACCCAAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	16											158	136	143					16																	10850620		2197	4300	6497	10758121	SO:0001583	missense	4682			U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"nucleotide binding protein 1 (E.coli MinD like)", "nucleotide binding protein 1 (MinD homolog, E. coli)"	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.434G>C	16.37:g.10850620G>C	ENSP00000283027:p.Arg145Thr		10758121		Missense_Mutation	SNP	ENST00000283027.5	37	CCDS10543.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844283	0.91197	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.48836	0.8;0.8	5.39	5.39	0.77823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.991;0.992	D	0.89706	0.3908	10	0.87932	D	0	-24.1508	18.162	0.89710	0.0:0.0:1.0:0.0	.	134;145	P53384-2;P53384	.;NUBP1_HUMAN	T	145;134	ENSP00000283027:R145T;ENSP00000409654:R134T	ENSP00000283027:R145T	R	+	2	0	NUBP1	10758121	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.611000	0.98342	2.512000	0.84698	0.563000	0.77884	AGG		0.537	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		C	10850620	G	C	10850620	3	2	269	1	0	0	0	0	1	0	0	0	10715	1000	35	3	456	3	NUBP1	16	10850620	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08		10850620	79504133	47	15145											
HS3ST3A1	9955	broad.mit.edu	37	17	13400029	13400029	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr17:13400029T>G	ENST00000284110.1	-	2	1503	c.706A>C	c.(706-708)Acc>Ccc	p.T236P	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.T34P	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	236					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)	p.T236P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGAGCTTGGTGTCCTTGGAC	0.647																																																1	Substitution - Missense(1)	ovary(1)	17											55	71	66					17																	13400029		2203	4300	6503	13340754	SO:0001583	missense	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.706A>C	17.37:g.13400029T>G	ENSP00000284110:p.Thr236Pro		13340754	A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325393	0.81580	.	.	ENSG00000153976	ENST00000284110	D	0.82619	-1.63	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.064282	0.64402	U	0.000009	D	0.89584	0.6757	M	0.79343	2.45	0.80722	D	1	D	0.61697	0.99	D	0.70935	0.971	D	0.90248	0.4291	10	0.72032	D	0.01	.	10.1141	0.42581	0.0:0.0768:0.0:0.9232	.	236	Q9Y663	HS3SA_HUMAN	P	236	ENSP00000284110:T236P	ENSP00000284110:T236P	T	-	1	0	HS3ST3A1	13340754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.176000	0.71955	2.317000	0.78254	0.460000	0.39030	ACC		0.647	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		G	13400029	T	G	13400029	3	3	269	1	0	0	0	0	1	0	0	0	7365	1696	59	5	518	5	HS3ST3A1	17	13400029	Missense_Mutation	SNP	T	TCGA-24-2035-01A-01W-0722-08		13400029	67795181	48	15146											
BRCA1	672	broad.mit.edu	37	17	41215914	41215914	+	Frame_Shift_Del	DEL	C	C	-	rs398122691		TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	-	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr17:41215914delC	ENST00000357654.3	-	17	5247	c.5129delG	c.(5128-5130)ggafs	p.G1710fs	BRCA1_ENST00000493795.1_Frame_Shift_Del_p.G1663fs|BRCA1_ENST00000491747.2_Frame_Shift_Del_p.G606fs|BRCA1_ENST00000591534.1_Frame_Shift_Del_p.G201fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.G1731fs|BRCA1_ENST00000586385.1_Frame_Shift_Del_p.G20fs|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.G1414fs|BRCA1_ENST00000468300.1_Frame_Shift_Del_p.G606fs|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.G1471fs|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000351666.3_Frame_Shift_Del_p.G527fs|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Frame_Shift_Del_p.G568fs	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1710	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G1710fs*4(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TACCCATTTTCCTCCCGCAAT	0.363			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Deletion - Frameshift(1)	ovary(1)	17											82	79	80					17																	41215914		2203	4300	6503	38469440	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5129delG	17.37:g.41215914delC	ENSP00000350283:p.Gly1710fs		38469440	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	ENST00000357654.3	37	CCDS11453.1																																																																																				0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		-	41215914	C	-	41215914	7	5	269	1	0	1	0	1	0	0	0	0	1498	855	30	0	490	0	BRCA1	17	41215914	Frame_Shift_Del	DEL	C	TCGA-24-2035-01A-01W-0722-08	27815885	41215914	39979296	49	15147											
SGSH	6448	broad.mit.edu	37	17	78184775	78184775	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr17:78184775G>A	ENST00000326317.6	-	8	1071	c.985C>T	c.(985-987)Ccg>Tcg	p.P329S	SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000534910.1_Missense_Mutation_p.P126S	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	329					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.P329S(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGGGTACGGGATCGAGAAC	0.652																																																1	Substitution - Missense(1)	ovary(1)	17											67	49	55					17																	78184775		2203	4299	6502	75799370	SO:0001583	missense	6448			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.985C>T	17.37:g.78184775G>A	ENSP00000314606:p.Pro329Ser		75799370	A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.015302	0.54468	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.96396	-4.0;-4.0	4.74	4.74	0.60224	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	L	0.37850	1.14	0.80722	D	1	B	0.10296	0.003	B	0.16722	0.016	D	0.90365	0.4376	10	0.23302	T	0.38	-36.0987	17.3187	0.87230	0.0:0.0:1.0:0.0	.	329	P51688	SPHM_HUMAN	S	329;126	ENSP00000314606:P329S;ENSP00000437778:P126S	ENSP00000314606:P329S	P	-	1	0	SGSH	75799370	1.000000	0.71417	0.988000	0.46212	0.916000	0.54674	4.693000	0.61753	2.159000	0.67721	0.556000	0.70494	CCG		0.652	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		A	78184775	G	A	78184775	3	1	269	1	0	0	0	0	1	0	0	0	14224	1232	43	2	527	2	SGSH	17	78184775	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	36968861	78184775	3010435	50	15148											
TJP3	27134	broad.mit.edu	37	19	3735866	3735866	+	Splice_Site	SNP	G	G	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr19:3735866G>T	ENST00000541714.2	+	10	1522		c.e10-1		TJP3_ENST00000539908.2_Splice_Site|TJP3_ENST00000262968.9_Splice_Site|TJP3_ENST00000589378.1_Splice_Site|TJP3_ENST00000382008.3_Splice_Site|TJP3_ENST00000587686.1_Splice_Site	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3						regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCCTTTCAGAGTTGCCCAG	0.527																																																1	Unknown(1)	ovary(1)	19											137	133	134					19																	3735866		2203	4300	6503	3686866	SO:0001630	splice_region_variant	27134			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1061-1G>T	19.37:g.3735866G>T			3686866	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Splice_Site	SNP	ENST00000541714.2	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974054	0.34848	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3869	0.55336	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TJP3	3686866	0.875000	0.30112	0.610000	0.28997	0.102000	0.19082	2.919000	0.48836	2.291000	0.77112	0.511000	0.50034	.		0.527	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1		Intron	T	3735866	G	T	3735866	5	4	269	1	0	0	0	0	0	0	1	0	15931	956	33	3	1193	3	TJP3	19	3735866	Splice_Site	SNP	G	TCGA-24-2035-01A-01W-0722-08		3735866	55393117	51	15149											
MUC16	94025	broad.mit.edu	37	19	9086617	9086617	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr19:9086617G>T	ENST00000397910.4	-	1	5401	c.5198C>A	c.(5197-5199)tCc>tAc	p.S1733Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1733	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S1733Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCAAGAGAGGAGGAGAGAGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											142	134	137					19																	9086617		1987	4184	6171	8947617	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5198C>A	19.37:g.9086617G>T	ENSP00000381008:p.Ser1733Tyr		8947617	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.108	-0.659123	0.03454	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.33	-2.65	0.06095	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	.	.	.	P	0.40282	0.711	B	0.29716	0.106	T	0.44034	-0.9354	8	0.87932	D	0	.	2.6703	0.05065	0.4059:0.2618:0.3322:0.0	.	1733	B5ME49	.	Y	1733	ENSP00000381008:S1733Y	ENSP00000381008:S1733Y	S	-	2	0	MUC16	8947617	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.047000	0.14056	-0.876000	0.04017	0.313000	0.20887	TCC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9086617	G	T	9086617	3	4	269	1	0	0	0	0	1	0	0	0	9973	1174	41	3	38661	3	MUC16	19	9086617	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	5350751	9086617	50042366	52	15150											
ZNF560	147741	broad.mit.edu	37	19	9581068	9581068	+	Splice_Site	SNP	C	C	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr19:9581068C>A	ENST00000301480.4	-	7	661	c.448G>T	c.(448-450)Ggt>Tgt	p.G150C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	150	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G150C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CCAGACTTACCTACTGAGGAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	19											176	148	158					19																	9581068		2203	4300	6503	9442068	SO:0001630	splice_region_variant	147741			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.448+1G>T	19.37:g.9581068C>A			9442068	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.278074	0.40294	.	.	ENSG00000198028	ENST00000301480	T	0.03004	4.08	2.09	2.09	0.27110	Krueppel-associated box (4);	.	.	.	.	T	0.22820	0.0551	M	0.93150	3.385	0.23162	N	0.998195	D	0.89917	1.0	D	0.81914	0.995	T	0.02713	-1.1120	8	.	.	.	.	10.2296	0.43247	0.0:1.0:0.0:0.0	.	150	Q96MR9	ZN560_HUMAN	C	150	ENSP00000301480:G150C	.	G	-	1	0	ZNF560	9442068	0.990000	0.36364	0.096000	0.21009	0.025000	0.11179	3.045000	0.49838	1.466000	0.48025	0.557000	0.71058	GGT		0.433	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	Missense_Mutation	A	9581068	C	A	9581068	5	1	269	1	0	0	0	0	0	0	1	0	17991	695	24	3	1940	3	ZNF560	19	9581068	Splice_Site	SNP	C	TCGA-24-2035-01A-01W-0722-08	494451	9581068	49547915	53	15151											
DNMT1	1786	broad.mit.edu	37	19	10265610	10265610	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr19:10265610T>C	ENST00000340748.4	-	19	1802	c.1567A>G	c.(1567-1569)Acc>Gcc	p.T523A	DNMT1_ENST00000540357.1_Missense_Mutation_p.T523A|DNMT1_ENST00000359526.4_Missense_Mutation_p.T539A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	523	DNA replication foci-targeting sequence. {ECO:0000250}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T523A(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TCCTCATAGGTCGAGTCGGAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	19											132	110	117					19																	10265610		2203	4300	6503	10126610	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1567A>G	19.37:g.10265610T>C	ENSP00000345739:p.Thr523Ala		10126610	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.262020	0.23051	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.76839	-1.05;-1.05;-1.05	5.61	3.52	0.40303	DNA (cytosine-5)-methyltransferase 1, replication foci domain (1);	0.330844	0.33854	N	0.004495	T	0.68007	0.2954	L	0.38175	1.15	0.31869	N	0.620029	B;B;B	0.19583	0.03;0.03;0.037	B;B;B	0.28305	0.036;0.036;0.088	T	0.66122	-0.6002	10	0.44086	T	0.13	.	8.6762	0.34181	0.0:0.1605:0.0:0.8395	.	523;539;523	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	A	539;523;523;391	ENSP00000352516:T539A;ENSP00000440457:T523A;ENSP00000345739:T523A	ENSP00000345739:T523A	T	-	1	0	DNMT1	10126610	0.997000	0.39634	0.346000	0.25655	0.013000	0.08279	2.686000	0.46968	0.520000	0.28426	0.533000	0.62120	ACC		0.522	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		C	10265610	T	C	10265610	3	2	269	1	0	0	0	0	1	0	0	0	4675	1667	58	4	3371	4	DNMT1	19	10265610	Missense_Mutation	SNP	T	TCGA-24-2035-01A-01W-0722-08	684542	10265610	48863373	54	15152											
KEAP1	9817	broad.mit.edu	37	19	10610575	10610575	+	Silent	SNP	G	G	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr19:10610575G>T	ENST00000171111.5	-	2	682	c.135C>A	c.(133-135)tcC>tcA	p.S45S	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Silent_p.S45S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.S45S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TGCCATGCTGGGAGGGCGTCA	0.637																																																1	Substitution - coding silent(1)	ovary(1)	19											132	105	114					19																	10610575		2203	4300	6503	10471575	SO:0001819	synonymous_variant	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.135C>A	19.37:g.10610575G>T			10471575	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	CCDS12239.1																																																																																				0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		T	10610575	G	T	10610575	2	4	269	1	0	0	0	0	0	0	0	1	8141	1219	43	3		3	KEAP1	19	10610575	Silent	SNP	G	TCGA-24-2035-01A-01W-0722-08	344965	10610575	48518408	55	15153											
POU2F2	5452	broad.mit.edu	37	19	42599765	42599765	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr19:42599765G>A	ENST00000526816.2	-	10	901	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	POU2F2_ENST00000533720.1_Missense_Mutation_p.R280W|POU2F2_ENST00000560558.1_Missense_Mutation_p.R241W|POU2F2_ENST00000529952.1_Missense_Mutation_p.R296W|POU2F2_ENST00000342301.4_Missense_Mutation_p.R296W|POU2F2_ENST00000529067.1_Missense_Mutation_p.R280W|POU2F2_ENST00000389341.5_Missense_Mutation_p.R280W|POU2F2_ENST00000560398.1_Missense_Mutation_p.R302W			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	296					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R280W(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TTGCGTCTCCGGCCGGGCAGG	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											27	29	29					19																	42599765		2203	4300	6503	47291605	SO:0001583	missense	5452				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.886C>T	19.37:g.42599765G>A	ENSP00000431603:p.Arg296Trp		47291605	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613172	0.87359	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9	4.09	3.03	0.35002	Homeodomain-related (1);Homeobox (1);POU (1);Homeodomain-like (1);	0.069562	0.56097	D	0.000031	D	0.98388	0.9464	H	0.97540	4.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.95;0.994	D	0.98725	1.0710	10	0.87932	D	0	.	12.3579	0.55186	0.0:0.0:0.8294:0.1706	.	280;296;280	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	W	280;296;296;280;295;280;296	ENSP00000373992:R280W;ENSP00000339369:R296W;ENSP00000437221:R280W;ENSP00000437224:R280W;ENSP00000436988:R296W	ENSP00000292077:R296W	R	-	1	2	POU2F2	47291605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	1.050000	0.40346	0.655000	0.94253	CGG		0.642	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			A	42599765	G	A	42599765	3	1	269	1	0	0	0	0	1	0	0	0	12272	1115	39	1	573	1	POU2F2	19	42599765	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	31989190	42599765	16529218	56	15154											
ZNF135	7694	broad.mit.edu	37	19	58579392	58579392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr19:58579392C>T	ENST00000313434.5	+	5	1641	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R526*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R538*|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R514*|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000506786.1_Nonsense_Mutation_p.R472*	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	514					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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.R514*(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAAACATCAGCGAATCCACAC	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	19											82	76	78					19																	58579392		2203	4300	6503	63271204	SO:0001587	stop_gained	7694			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1540C>T	19.37:g.58579392C>T	ENSP00000321406:p.Arg514*		63271204	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Nonsense_Mutation	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	C	14.23	2.473751	0.43942	.	.	ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.	.	.	3.26	0.772	0.18510	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0123	0.36148	0.6198:0.3802:0.0:0.0	.	.	.	.	X	538;514;514;526;472	.	ENSP00000321406:R514X	R	+	1	2	ZNF135	63271204	0.000000	0.05858	0.469000	0.27204	0.004000	0.04260	-0.510000	0.06328	0.691000	0.31592	-0.321000	0.08615	CGA		0.557	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		T	58579392	C	T	58579392	4	4	269	1	0	0	0	0	0	1	0	0	17725	760	27	1	1743	1	ZNF135	19	58579392	Nonsense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	15979627	58579392	549591	57	15155											
TAF4	6874	broad.mit.edu	37	20	60551331	60551331	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr20:60551331T>C	ENST00000252996.4	-	15	3150	c.3151A>G	c.(3151-3153)Acg>Gcg	p.T1051A		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	1051					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T1051A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTTTGTCGCGTGAACTGTCTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	20											102	111	108					20																	60551331		2203	4300	6503	59984726	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.3151A>G	20.37:g.60551331T>C	ENSP00000252996:p.Thr1051Ala		59984726	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	T	8.590	0.884422	0.17467	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.24350	1.86;1.86	5.35	3.08	0.35506	Transcription initiation factor TFIID component TAF4 (1);	0.150930	0.64402	N	0.000020	T	0.15003	0.0362	N	0.21448	0.665	0.49582	D	0.999802	B	0.33171	0.4	B	0.34873	0.191	T	0.07046	-1.0793	10	0.10636	T	0.68	-7.1837	9.4903	0.38955	0.0:0.145:0.0:0.855	.	1051	O00268	TAF4_HUMAN	A	1051;915	ENSP00000252996:T1051A;ENSP00000399091:T915A	ENSP00000252996:T1051A	T	-	1	0	TAF4	59984726	1.000000	0.71417	0.983000	0.44433	0.121000	0.20230	3.625000	0.54238	0.343000	0.23821	-0.290000	0.09829	ACG		0.537	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		C	60551331	T	C	60551331	3	2	269	1	0	0	0	0	1	0	0	0	15526	1696	59	4	110	4	TAF4	20	60551331	Missense_Mutation	SNP	T	TCGA-24-2035-01A-01W-0722-08		60551331	2474189	58	15156											
PRPF6	57473	broad.mit.edu	37	20	62632582	62632582	+	Intron	SNP	T	T	A			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr20:62632582T>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Silent_p.V392V			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V392V(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGAAGCGGGTTCTTCGGAAAG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	20											91	78	82					20																	62632582		2203	4300	6503	62103026	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-33274A>T	20.37:g.62632582T>A			62103026	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																				0.582	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		A	62632582	T	A	62632582	1	1	269	0	1	0	0	0	0	0	0	0	12577	1770	62	5		5	PRPF6	20	62632582	Intron	SNP	T	TCGA-24-2035-01A-01W-0722-08	2081251	62632582	392938	59	15157											
C21orf91	54149	broad.mit.edu	37	21	19169163	19169163	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr21:19169163G>C	ENST00000400558.3	-	3	490	c.400C>G	c.(400-402)Cag>Gag	p.Q134E	C21orf91_ENST00000284881.4_Missense_Mutation_p.Q134E|C21orf91_ENST00000400559.3_Missense_Mutation_p.Q134E|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000493464.1_5'UTR	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91									p.Q134E(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GAGTCAAACTGTGGGAGTAAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	21											134	120	125					21																	19169163		1820	4092	5912	18091034	SO:0001583	missense	54149			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"cold sore susceptibility gene 1", "early undifferentiated retina and lens"		"chromosome 21 open reading frame 38"	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.400C>G	21.37:g.19169163G>C	ENSP00000383403:p.Gln134Glu		18091034		Missense_Mutation	SNP	ENST00000400558.3	37	CCDS42909.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020896	0.75275	.	.	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	6.16	6.16	0.99307	.	0.050059	0.85682	D	0.000000	T	0.24624	0.0597	M	0.66939	2.045	0.80722	D	1	B;P	0.39044	0.417;0.656	B;B	0.37550	0.085;0.253	T	0.00797	-1.1562	9	.	.	.	-12.5603	19.848	0.96722	0.0:0.0:1.0:0.0	.	134;134	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	E	134	ENSP00000284881:Q134E;ENSP00000383404:Q134E;ENSP00000383403:Q134E;ENSP00000385566:Q134E	.	Q	-	1	0	C21orf91	18091034	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.321000	0.89997	2.937000	0.99478	0.650000	0.86243	CAG		0.388	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		C	19169163	G	C	19169163	3	2	269	1	0	0	0	0	1	0	0	0	2134	1386	48	3	505	3	C21orf91	21	19169163	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08		19169163	28960732	60	15158											
UBASH3A	53347	broad.mit.edu	37	21	43863427	43863427	+	Missense_Mutation	SNP	C	C	T	rs143166994	byFrequency	TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chr21:43863427C>T	ENST00000319294.6	+	13	1668	c.1637C>T	c.(1636-1638)gCg>gTg	p.A546V	UBASH3A_ENST00000291535.6_Missense_Mutation_p.A508V|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	546	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A546V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCCAGGCCCGCGTTTCCCCTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	21						C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	62	47	52		1523,1637	1.7	0.2	21	dbSNP_134	52	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	UBASH3A	NM_001001895.2,NM_018961.3	64,64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign,benign	508/624,546/662	43863427	5,13001	2203	4300	6503	42736496	SO:0001583	missense	53347			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1637C>T	21.37:g.43863427C>T	ENSP00000317327:p.Ala546Val		42736496	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	0.056	-1.237301	0.01493	2.27E-4	4.65E-4	ENSG00000160185	ENST00000291535;ENST00000319294	T;T	0.72615	-0.67;-0.67	3.54	1.73	0.24493	Histidine phosphatase superfamily, clade-1 (1);	0.625714	0.15600	N	0.253949	T	0.43122	0.1233	N	0.10707	0.03	0.20074	N	0.999932	B;B	0.20459	0.021;0.045	B;B	0.10450	0.002;0.005	T	0.21143	-1.0254	10	0.15952	T	0.53	-16.3997	5.9067	0.19004	0.0:0.7601:0.0:0.2399	.	508;546	P57075-2;P57075	.;UBS3A_HUMAN	V	508;546	ENSP00000291535:A508V;ENSP00000317327:A546V	ENSP00000291535:A508V	A	+	2	0	UBASH3A	42736496	0.156000	0.22821	0.185000	0.23176	0.003000	0.03518	0.812000	0.27211	0.506000	0.28125	0.650000	0.86243	GCG		0.597	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		T	43863427	C	T	43863427	3	4	269	1	0	0	0	0	1	0	0	0	16839	768	27	1	1687	1	UBASH3A	21	43863427	Missense_Mutation	SNP	C	TCGA-24-2035-01A-01W-0722-08	24694264	43863427	4266468	61	15159											
RS1	6247	broad.mit.edu	37	X	18660213	18660213	+	Missense_Mutation	SNP	A	A	C	rs199469701		TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chrX:18660213A>C	ENST00000379984.3	-	6	626	c.586T>G	c.(586-588)Tcc>Gcc	p.S196A	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	196	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.S196A(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					ATGAAGCGGGAGATGATGGGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	X											76	68	71					X																	18660213		2203	4300	6503	18570134	SO:0001583	missense	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.586T>G	X.37:g.18660213A>C	ENSP00000369320:p.Ser196Ala		18570134	Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	A	5.669	0.308055	0.10733	.	.	ENSG00000102104	ENST00000379984	D	0.95690	-3.78	5.63	4.43	0.53597	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.096208	0.64402	N	0.000001	T	0.78381	0.4274	N	0.00182	-1.905	0.30355	N	0.784434	B	0.09022	0.002	B	0.06405	0.002	T	0.71227	-0.4655	10	0.02654	T	1	.	11.7841	0.52032	0.5705:0.4295:0.0:0.0	.	196	O15537	XLRS1_HUMAN	A	196	ENSP00000369320:S196A	ENSP00000369320:S196A	S	-	1	0	RS1	18570134	0.995000	0.38212	0.965000	0.40720	0.996000	0.88848	3.277000	0.51654	0.718000	0.32166	0.481000	0.45027	TCC		0.602	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			C	18660213	A	C	18660213	3	2	269	1	0	0	0	0	1	0	0	0	13696	304	11	5	92	5	RS1	23	18660213	Missense_Mutation	SNP	A	TCGA-24-2035-01A-01W-0722-08		18660213	136610347	62	15160											
RLIM	51132	broad.mit.edu	37	X	73811648	73811648	+	Missense_Mutation	SNP	G	G	A	rs200629905		TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chrX:73811648G>A	ENST00000332687.6	-	4	1720	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	RLIM_ENST00000349225.2_Missense_Mutation_p.S501L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	501	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S501L(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGATGATGAGCTTCCTTC	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											3	Substitution - Missense(3)	prostate(2)|ovary(1)	X											45	38	40					X																	73811648		2203	4300	6503	73728373	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1502C>T	X.37:g.73811648G>A	ENSP00000328059:p.Ser501Leu		73728373	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577275	0.13686	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08984	3.03;3.03	5.41	4.55	0.56014	.	0.666655	0.15400	N	0.264373	T	0.10121	0.0248	L	0.49126	1.545	0.38573	D	0.949983	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.23891	T	0.37	-0.2985	13.4694	0.61273	0.0772:0.0:0.9228:0.0	.	501	Q9NVW2	RNF12_HUMAN	L	501	ENSP00000328059:S501L;ENSP00000253571:S501L	ENSP00000328059:S501L	S	-	2	0	RLIM	73728373	0.997000	0.39634	0.969000	0.41365	0.831000	0.47069	2.664000	0.46783	1.072000	0.40860	-0.192000	0.12808	TCA		0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		A	73811648	G	A	73811648	3	1	269	1	0	0	0	0	1	0	0	0	13393	1294	45	2	376	2	RLIM	23	73811648	Missense_Mutation	SNP	G	TCGA-24-2035-01A-01W-0722-08	55151435	73811648	81458912	63	15161											
NRK	203447	broad.mit.edu	37	X	105153288	105153288	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chrX:105153288A>T	ENST00000243300.9	+	13	1958	c.1655A>T	c.(1654-1656)cAg>cTg	p.Q552L	NRK_ENST00000428173.2_Missense_Mutation_p.Q553L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	552	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Q552L(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAGCTGGAGCAGAACCAGGCA	0.562										HNSCC(51;0.14)																																						1	Substitution - Missense(1)	ovary(1)	X											39	39	39					X																	105153288		2016	4153	6169	105039944	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1655A>T	X.37:g.105153288A>T	ENSP00000434830:p.Gln552Leu		105039944	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	A	3.939	-0.014693	0.07681	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.24723	1.84;1.84	4.49	1.96	0.26148	.	0.480497	0.17763	N	0.162823	T	0.14614	0.0353	L	0.31752	0.955	0.50313	D	0.999862	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.10800	-1.0614	10	0.21014	T	0.42	.	5.0169	0.14341	0.447:0.3706:0.0:0.1824	.	220;552	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	L	552;553	ENSP00000434830:Q552L;ENSP00000438378:Q553L	ENSP00000434830:Q552L	Q	+	2	0	NRK	105039944	0.977000	0.34250	0.037000	0.18230	0.016000	0.09150	0.454000	0.21827	0.278000	0.22164	0.486000	0.48141	CAG		0.562	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		T	105153288	A	T	105153288	3	4	269	1	0	0	0	0	1	0	0	0	10655	188	7	5	1705	5	NRK	23	105153288	Missense_Mutation	SNP	A	TCGA-24-2035-01A-01W-0722-08	31341640	105153288	50117272	64	15162											
COL4A6	1288	broad.mit.edu	37	X	107403784	107403784	+	Silent	SNP	C	C	T			TCGA-24-2035-01A-01W-0722-08	TCGA-24-2035-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6845bf86-6f88-48f2-a93a-681506a3deaf	319c823f-31c2-48c6-b91a-4f980023063f	g.chrX:107403784C>T	ENST00000372216.4	-	43	4537	c.4437G>A	c.(4435-4437)gtG>gtA	p.V1479V	COL4A6_ENST00000394872.2_Silent_p.V1479V|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000334504.7_Silent_p.V1478V|COL4A6_ENST00000538570.1_Silent_p.V1421V|COL4A6_ENST00000545689.1_Silent_p.V1454V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1479	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.V1478V(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GACACGGGGGCACCTGTTCCG	0.612									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - coding silent(1)	ovary(1)	X											144	113	123					X																	107403784		2203	4300	6503	107290440	SO:0001819	synonymous_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4437G>A	X.37:g.107403784C>T			107290440	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																				0.612	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			T	107403784	C	T	107403784	2	4	269	1	0	0	0	0	0	0	0	1	3695	697	25	2		2	COL4A6	23	107403784	Silent	SNP	C	TCGA-24-2035-01A-01W-0722-08	2250496	107403784	47866776	65	15163											
SSX2IP	117178	broad.mit.edu	37	1	85124057	85124057	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr1:85124057C>T	ENST00000342203.3	-	9	1285	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341N|SSX2IP_ENST00000437941.2_Missense_Mutation_p.S314N|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314N	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	341					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.S341N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCTGATGCTGTTTGTAAG	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											146	132	137					1																	85124057		2203	4300	6503	84896645	SO:0001583	missense	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1022G>A	1.37:g.85124057C>T	ENSP00000340279:p.Ser341Asn		84896645	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441725	0.96187	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.54279	0.61;0.58	5.81	5.81	0.92471	.	0.035186	0.85682	D	0.000000	T	0.64616	0.2614	M	0.74258	2.255	0.58432	D	0.999998	D;P;P	0.53151	0.958;0.93;0.93	P;P;P	0.56163	0.793;0.712;0.712	T	0.67333	-0.5697	10	0.72032	D	0.01	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	337;341;314	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	N	341;314;337;341	ENSP00000340279:S341N;ENSP00000412781:S314N	ENSP00000340279:S341N	S	-	2	0	SSX2IP	84896645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.746000	0.94184	0.655000	0.94253	AGC		0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		T	85124057	C	T	85124057	3	4	270	1	0	0	0	0	1	0	0	0	15206	797	28	2	846	2	SSX2IP	1	85124057	Missense_Mutation	SNP	C	TCGA-24-2038-01A-01W-0722-08		85124057	164126564	1	15164											
PCDHA12	56137	broad.mit.edu	37	5	140257112	140257112	+	Silent	SNP	C	C	T			TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr5:140257112C>T	ENST00000398631.2	+	1	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCAGTGGGCGCTGTGGATC	0.647																																					Pancreas(113;759 1672 13322 24104 50104)											0			5											38	42	41					5																	140257112		2202	4300	6502	140237296	SO:0001819	synonymous_variant	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2055C>T	5.37:g.140257112C>T			140237296	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																				0.647	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		T	140257112	C	T	140257112	2	4	270	1	0	0	0	0	0	0	0	1	11522	755	27	1		1	PCDHA12	5	140257112	Silent	SNP	C	TCGA-24-2038-01A-01W-0722-08		140257112	40658148	2	15165											
TMEM176A	55365	broad.mit.edu	37	7	150499360	150499360	+	Missense_Mutation	SNP	C	C	T	rs200232307		TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr7:150499360C>T	ENST00000484928.1	+	3	813	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	TMEM176B_ENST00000450753.2_5'Flank|TMEM176A_ENST00000004103.3_Missense_Mutation_p.R78C|TMEM176B_ENST00000434545.1_5'Flank|TMEM176B_ENST00000447204.2_5'Flank|TMEM176B_ENST00000492607.1_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.R19C|TMEM176B_ENST00000326442.5_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	78					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)		p.R78C(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCTACATCCGCGACTACAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											136	112	120					7																	150499360		2203	4300	6503	150130293	SO:0001583	missense	55365			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.232C>T	7.37:g.150499360C>T	ENSP00000417626:p.Arg78Cys		150130293	D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	C	9.886	1.202941	0.22121	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	4.45	-8.9	0.00782	.	2.336960	0.01566	N	0.020352	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46048	-0.9219	10	0.44086	T	0.13	0.3354	3.1526	0.06493	0.1048:0.1608:0.4123:0.3221	.	78	Q96HP8	T176A_HUMAN	C	78;78;19;30;19	ENSP00000417626:R78C;ENSP00000004103:R78C;ENSP00000420818:R19C;ENSP00000417834:R30C;ENSP00000420081:R19C	ENSP00000004103:R78C	R	+	1	0	TMEM176A	150130293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.613000	0.05610	-1.620000	0.01564	-2.177000	0.00319	CGC		0.582	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		T	150499360	C	T	150499360	3	4	270	1	0	0	0	0	1	0	0	0	16092	652	23	1	238	1	TMEM176A	7	150499360	Missense_Mutation	SNP	C	TCGA-24-2038-01A-01W-0722-08		150499360	8639303	3	15166											
DNMBP	23268	broad.mit.edu	37	10	101639945	101639945	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr10:101639945C>T	ENST00000324109.4	-	16	4262	c.4171G>A	c.(4171-4173)Gct>Act	p.A1391T	DNMBP_ENST00000540316.1_Missense_Mutation_p.A327T|DNMBP_ENST00000342239.3_Missense_Mutation_p.A1415T|DNMBP_ENST00000543621.1_Missense_Mutation_p.A637T	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1391	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1391T(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAGGATACAGCCATGCTGCTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	10											126	120	122					10																	101639945		2203	4300	6503	101629935	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4171G>A	10.37:g.101639945C>T	ENSP00000315659:p.Ala1391Thr		101629935	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	7.983	0.751605	0.15778	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.32988	2.9;2.83;2.46;1.43	5.42	2.56	0.30785	.	0.143327	0.32258	N	0.006354	T	0.09905	0.0243	N	0.03115	-0.41	0.29015	N	0.886622	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.11329	0.004;0.003;0.006	T	0.27157	-1.0082	10	0.08837	T	0.75	-7.7473	4.1599	0.10278	0.2177:0.4766:0.0:0.3057	.	1391;637;1415	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	T	1415;1391;637;637;327	ENSP00000344914:A1415T;ENSP00000315659:A1391T;ENSP00000443657:A637T;ENSP00000443573:A327T	ENSP00000315659:A1391T	A	-	1	0	DNMBP	101629935	0.003000	0.15002	1.000000	0.80357	0.838000	0.47535	-0.110000	0.10824	0.653000	0.30826	-0.254000	0.11334	GCT		0.582	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		T	101639945	C	T	101639945	3	4	270	1	0	0	0	0	1	0	0	0	4674	739	26	2	570	2	DNMBP	10	101639945	Missense_Mutation	SNP	C	TCGA-24-2038-01A-01W-0722-08		101639945	33894802	4	15167											
C11orf30	56946	broad.mit.edu	37	11	76253272	76253272	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr11:76253272C>A	ENST00000529032.1	+	17	2570	c.2570C>A	c.(2569-2571)tCc>tAc	p.S857Y	C11orf30_ENST00000524490.1_Missense_Mutation_p.S759Y|C11orf30_ENST00000533248.1_Missense_Mutation_p.S766Y|C11orf30_ENST00000525038.1_Missense_Mutation_p.S858Y|C11orf30_ENST00000525919.1_Missense_Mutation_p.S858Y|C11orf30_ENST00000343878.3_Missense_Mutation_p.S857Y|C11orf30_ENST00000334736.3_Missense_Mutation_p.S857Y|C11orf30_ENST00000524767.1_Missense_Mutation_p.S872Y			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	857					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S857Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGCCATCGCTCCCAGCCCCAA	0.517																																																1	Substitution - Missense(1)	ovary(1)	11											150	154	153					11																	76253272		2200	4292	6492	75930920	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2570C>A	11.37:g.76253272C>A	ENSP00000432327:p.Ser857Tyr		75930920	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397284	0.62177	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000524451	.	.	.	5.53	5.53	0.82687	.	0.131761	0.52532	D	0.000066	T	0.67832	0.2935	L	0.29908	0.895	0.52501	D	0.999956	D;P;P;P;B;D;B	0.67145	0.996;0.826;0.894;0.891;0.031;0.978;0.031	D;B;B;P;B;P;B	0.74023	0.982;0.446;0.446;0.528;0.005;0.496;0.005	T	0.70396	-0.4883	9	0.66056	D	0.02	-5.6102	19.4613	0.94918	0.0:1.0:0.0:0.0	.	766;858;872;211;858;759;857	B7ZKT8;B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	Y	759;857;857;539;872;766;858;858;857;129	.	ENSP00000334130:S857Y	S	+	2	0	C11orf30	75930920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.055000	0.64282	2.600000	0.87896	0.563000	0.77884	TCC		0.517	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		A	76253272	C	A	76253272	3	1	270	1	0	0	0	0	1	0	0	0	1636	855	30	3	2636	3	C11orf30	11	76253272	Missense_Mutation	SNP	C	TCGA-24-2038-01A-01W-0722-08		76253272	58753244	5	15168											
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91	81	85					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		A	25398284	C	A	25398284	3	1	270	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-24-2038-01A-01W-0722-08		25398284	108453611	6	15169											
DNAH10	196385	broad.mit.edu	37	12	124352060	124352060	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr12:124352060A>G	ENST00000409039.3	+	41	6885	c.6860A>G	c.(6859-6861)tAt>tGt	p.Y2287C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2287	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y879C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TATGTGCCCTATCTCATGGAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	12											88	82	84					12																	124352060		1877	4097	5974	122918013	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6860A>G	12.37:g.124352060A>G	ENSP00000386770:p.Tyr2287Cys		122918013	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	4.202	0.036297	0.08148	.	.	ENSG00000197653	ENST00000409039	T	0.26223	1.75	5.04	-0.517	0.11947	.	0.352841	0.25233	U	0.032147	T	0.16342	0.0393	L	0.41824	1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13980	-1.0489	10	0.59425	D	0.04	.	4.3707	0.11246	0.4795:0.3416:0.0668:0.1122	.	2287	Q8IVF4	DYH10_HUMAN	C	2287	ENSP00000386770:Y2287C	ENSP00000386770:Y2287C	Y	+	2	0	DNAH10	122918013	0.015000	0.18098	0.337000	0.25536	0.177000	0.22998	0.979000	0.29500	-0.357000	0.08175	-0.661000	0.03856	TAT		0.363	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			G	124352060	A	G	124352060	3	3	270	1	0	0	0	0	1	0	0	0	4598	449	16	4	7022	4	DNAH10	12	124352060	Missense_Mutation	SNP	A	TCGA-24-2038-01A-01W-0722-08	98953776	124352060	9499835	7	15170											
THSD4	79875	broad.mit.edu	37	15	72057451	72057451	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr15:72057451A>T	ENST00000355327.3	+	16	2816	c.2682A>T	c.(2680-2682)gaA>gaT	p.E894D	THSD4_ENST00000261862.6_Missense_Mutation_p.E894D|THSD4_ENST00000357769.4_Missense_Mutation_p.E534D|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	894	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.E894D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCCCTCTGAATGTTCTTTCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	15											115	116	116					15																	72057451		1910	4133	6043	69844505	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2682A>T	15.37:g.72057451A>T	ENSP00000347484:p.Glu894Asp		69844505	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190816	0.58017	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.56776	0.44;0.44;0.44	4.35	-1.45	0.08828	.	.	.	.	.	T	0.39253	0.1071	L	0.32530	0.975	0.54753	D	0.999984	B;D	0.53312	0.324;0.959	B;P	0.47603	0.129;0.551	T	0.28933	-1.0028	9	0.34782	T	0.22	.	4.7742	0.13171	0.3919:0.1688:0.4393:0.0	.	534;894	B4DR13;Q6ZMP0	.;THSD4_HUMAN	D	894;894;534	ENSP00000347484:E894D;ENSP00000261862:E894D;ENSP00000350413:E534D	ENSP00000261862:E894D	E	+	3	2	THSD4	69844505	0.985000	0.35326	0.610000	0.28997	0.787000	0.44495	0.230000	0.17852	-0.418000	0.07450	0.379000	0.24179	GAA		0.522	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		T	72057451	A	T	72057451	3	4	270	1	0	0	0	0	1	0	0	0	15878	98	4	5	2740	5	THSD4	15	72057451	Missense_Mutation	SNP	A	TCGA-24-2038-01A-01W-0722-08		72057451	30473941	8	15171											
OR4D2	124538	broad.mit.edu	37	17	56247641	56247641	+	Missense_Mutation	SNP	G	G	A	rs149114670		TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr17:56247641G>A	ENST00000545221.1	+	1	625	c.625G>A	c.(625-627)Gtc>Atc	p.V209I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V209I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTGGATGTCGTCTGGTTCTT	0.527																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	17						A	ILE/VAL	2,4404	826.0+/-416.6	0,2,2201	174	130	145		625	4.6	0.9	17	dbSNP_134	145	0,8600		0,0,4300	yes	missense	OR4D2	NM_001004707.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	209/308	56247641	2,13004	2203	4300	6503	53602640	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.625G>A	17.37:g.56247641G>A	ENSP00000441354:p.Val209Ile		53602640	Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.670560	0.00758	4.54E-4	0.0	ENSG00000255713	ENST00000545221	T	0.35236	1.32	5.71	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.114355	0.39274	N	0.001415	T	0.17492	0.0420	N	0.16130	0.375	0.18873	N	0.999984	B	0.06786	0.001	B	0.09377	0.004	T	0.33574	-0.9863	10	0.02654	T	1	-40.4738	9.1704	0.37076	0.8488:0.0:0.1512:0.0	.	209	P58180	OR4D2_HUMAN	I	209	ENSP00000441354:V209I	ENSP00000441354:V209I	V	+	1	0	OR4D2	53602640	0.000000	0.05858	0.867000	0.34043	0.054000	0.15201	-0.064000	0.11636	0.516000	0.28340	-0.308000	0.09152	GTC		0.527	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			A	56247641	G	A	56247641	3	1	270	1	0	0	0	0	1	0	0	0	11056	1145	40	1	627	1	OR4D2	17	56247641	Missense_Mutation	SNP	G	TCGA-24-2038-01A-01W-0722-08		56247641	24947569	9	15172											
MC2R	4158	broad.mit.edu	37	18	13884683	13884683	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2038-01A-01W-0722-08	TCGA-24-2038-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	045d67d0-7fe5-4f2d-b0cd-1c34a43e5510	769e0884-29a6-4e49-aa37-be2777bd7315	g.chr18:13884683G>A	ENST00000327606.3	-	2	1015	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	279					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.R279W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TCTGGGCTCCGGAAGGCATAT	0.498																																					Colon(141;1584 1782 35999 48227 48692)											1	Substitution - Missense(1)	ovary(1)	18											109	105	106					18																	13884683		2203	4300	6503	13874683	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.835C>T	18.37:g.13884683G>A	ENSP00000333821:p.Arg279Trp		13874683	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469923	0.84533	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.41065	1.01	5.06	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.90650	3.135	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.77905	-0.2413	10	0.87932	D	0	.	14.7425	0.69467	0.0:0.0:0.8539:0.1461	.	279	Q01718	ACTHR_HUMAN	W	279	ENSP00000333821:R279W	ENSP00000333821:R279W	R	-	1	2	MC2R	13874683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.042000	0.70996	1.098000	0.41479	0.655000	0.94253	CGG		0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			A	13884683	G	A	13884683	3	1	270	1	0	0	0	0	1	0	0	0	9364	1115	39	1	62	1	MC2R	18	13884683	Missense_Mutation	SNP	G	TCGA-24-2038-01A-01W-0722-08		13884683	64192565	10	15173											
MTOR	2475	broad.mit.edu	37	1	11272938	11272938	+	Missense_Mutation	SNP	C	C	T	rs529153687		TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr1:11272938C>T	ENST00000361445.4	-	22	3389	c.3313G>A	c.(3313-3315)Gcc>Acc	p.A1105T		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1105					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A1105T(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCCAGGTTGGCGCCAAACAGC	0.512													C|||	1	0.000199681	0	0	5008	,	,		17392	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	1											102	87	92					1																	11272938		2203	4300	6503	11195525	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3313G>A	1.37:g.11272938C>T	ENSP00000354558:p.Ala1105Thr		11195525	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754482	0.69648	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64438	-0.1	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.122378	0.56097	D	0.000040	T	0.51873	0.1700	L	0.33753	1.03	0.80722	D	1	B	0.30211	0.273	B	0.17722	0.019	T	0.47302	-0.9128	10	0.31617	T	0.26	-17.9397	19.3587	0.94425	0.0:1.0:0.0:0.0	.	1105	P42345	MTOR_HUMAN	T	1105	ENSP00000354558:A1105T	ENSP00000354558:A1105T	A	-	1	0	MTOR	11195525	1.000000	0.71417	0.961000	0.40146	0.991000	0.79684	7.304000	0.78882	2.573000	0.86826	0.655000	0.94253	GCC		0.512	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11272938	C	T	11272938	3	4	271	1	0	0	0	0	1	0	0	0	9954	768	27	1	4484	1	MTOR	1	11272938	Missense_Mutation	SNP	C	TCGA-24-2254-01A-01W-0722-08		11272938	237977683	1	15174											
HAO2	51179	broad.mit.edu	37	1	119936413	119936413	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr1:119936413C>T	ENST00000325945.3	+	8	1079	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	HAO2_ENST00000361035.4_Missense_Mutation_p.R349W|HAO2_ENST00000482991.1_3'UTR	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	336	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.R336W(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TTTAGGCTGCCGGTCGGTCGC	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											213	194	200					1																	119936413		2203	4300	6503	119737936	SO:0001583	missense	51179			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.1006C>T	1.37:g.119936413C>T	ENSP00000316339:p.Arg336Trp		119737936	Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187497	0.38609	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	T;T	0.33216	1.42;1.42	4.66	2.71	0.32032	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.384931	0.26673	N	0.023082	T	0.22475	0.0542	M	0.87547	2.89	0.49483	D	0.999795	P	0.35793	0.521	B	0.33254	0.16	T	0.06972	-1.0797	9	.	.	.	-9.7153	11.4768	0.50302	0.3256:0.6744:0.0:0.0	.	336	Q9NYQ3	HAOX2_HUMAN	W	349;336	ENSP00000354314:R349W;ENSP00000316339:R336W	.	R	+	1	2	HAO2	119737936	1.000000	0.71417	0.971000	0.41717	0.715000	0.41141	1.776000	0.38594	0.647000	0.30713	0.563000	0.77884	CGG		0.483	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		T	119936413	C	T	119936413	3	4	271	1	0	0	0	0	1	0	0	0	6952	643	23	1	1032	1	HAO2	1	119936413	Missense_Mutation	SNP	C	TCGA-24-2254-01A-01W-0722-08	108663475	119936413	129314208	2	15175											
PGLYRP4	57115	broad.mit.edu	37	1	153317834	153317834	+	Missense_Mutation	SNP	G	G	A	rs200715095		TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr1:153317834G>A	ENST00000359650.5	-	4	228	c.164C>T	c.(163-165)aCg>aTg	p.T55M	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000368739.3_Missense_Mutation_p.T51M	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	55					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.T55M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGAGAGACCGTGGTGGAGAC	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											127	98	108					1																	153317834		2203	4300	6503	151584458	SO:0001583	missense	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.164C>T	1.37:g.153317834G>A	ENSP00000352672:p.Thr55Met		151584458	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	0.539	-0.854573	0.02630	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.04603	3.61;3.59	3.2	-1.57	0.08506	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	.	.	.	.	T	0.00468	0.0015	N	0.01576	-0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.45848	-0.9233	9	0.24483	T	0.36	-17.5147	2.2658	0.04078	0.4913:0.0:0.2841:0.2246	.	51;55	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	M	51;55	ENSP00000357728:T51M;ENSP00000352672:T55M	ENSP00000352672:T55M	T	-	2	0	PGLYRP4	151584458	0.000000	0.05858	0.204000	0.23530	0.070000	0.16714	0.510000	0.22723	0.026000	0.15269	-0.657000	0.03884	ACG		0.587	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		A	153317834	G	A	153317834	3	1	271	1	0	0	0	0	1	0	0	0	11796	1145	40	1	981	1	PGLYRP4	1	153317834	Missense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08	33381421	153317834	95932787	3	15176											
DCST1	149095	broad.mit.edu	37	1	155014239	155014239	+	Silent	SNP	G	G	A			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr1:155014239G>A	ENST00000295542.1	+	8	894	c.798G>A	c.(796-798)aaG>aaA	p.K266K	DCST1_ENST00000368419.2_Silent_p.K266K|DCST1_ENST00000423025.2_Silent_p.K241K|DCST1_ENST00000392480.1_Silent_p.K266K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	266						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.K266K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TTGACCGCAAGCATGAACAGT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	1											179	134	149					1																	155014239		2203	4300	6503	153280863	SO:0001819	synonymous_variant	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.798G>A	1.37:g.155014239G>A			153280863	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	CCDS1083.1																																																																																				0.537	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		A	155014239	G	A	155014239	2	1	271	1	0	0	0	0	0	0	0	1	4302	962	34	2		2	DCST1	1	155014239	Silent	SNP	G	TCGA-24-2254-01A-01W-0722-08	1696405	155014239	94236382	4	15177											
CHRM3	1131	broad.mit.edu	37	1	240072215	240072215	+	Silent	SNP	A	A	G			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr1:240072215A>G	ENST00000255380.4	+	5	2243	c.1464A>G	c.(1462-1464)aaA>aaG	p.K488K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	488					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.K488K(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGGAGAAGAAAGCGGCCCAGA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	1											136	129	132					1																	240072215		2203	4300	6503	238138838	SO:0001819	synonymous_variant	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1464A>G	1.37:g.240072215A>G			238138838	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	CCDS1616.1																																																																																				0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		G	240072215	A	G	240072215	2	3	271	1	0	0	0	0	0	0	0	1	3378	69	3	4		4	CHRM3	1	240072215	Silent	SNP	A	TCGA-24-2254-01A-01W-0722-08	85057976	240072215	9178406	5	15178											
INSIG2	51141	broad.mit.edu	37	2	118860793	118860793	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr2:118860793C>G	ENST00000245787.4	+	3	471	c.265C>G	c.(265-267)Ccc>Gcc	p.P89A	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	89					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.P89A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTTATTATACCCCTGCATTGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	2											146	153	151					2																	118860793		2203	4300	6503	118577263	SO:0001583	missense	51141			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.265C>G	2.37:g.118860793C>G	ENSP00000245787:p.Pro89Ala		118577263	A8K5W8|Q8TBI8	Missense_Mutation	SNP	ENST00000245787.4	37	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892624	0.91889	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.49	5.49	0.81192	.	0.109104	0.64402	D	0.000005	D	0.84946	0.5585	M	0.86420	2.815	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86183	0.1607	9	0.62326	D	0.03	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	89	Q9Y5U4	INSI2_HUMAN	A	89	.	ENSP00000245787:P89A	P	+	1	0	INSIG2	118577263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.604000	0.82830	2.857000	0.98124	0.650000	0.86243	CCC		0.383	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		G	118860793	C	G	118860793	3	3	271	1	0	0	0	0	1	0	0	0	7766	623	22	3	271	3	INSIG2	2	118860793	Missense_Mutation	SNP	C	TCGA-24-2254-01A-01W-0722-08		118860793	124338580	6	15179											
SAP130	79595	broad.mit.edu	37	2	128753991	128754003	+	Frame_Shift_Del	DEL	GGCTACTCCTCTC	GGCTACTCCTCTC	-	rs147076612|rs370299555|rs374338478		TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	GGCTACTCCTCTC	GGCTACTCCTCTC	-	-	GGCTACTCCTCTC	GGCTACTCCTCTC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr2:128753991_128754003delGGCTACTCCTCTC	ENST00000259235.3	-	11	1483_1495	c.1354_1366delGAGAGGAGTAGCC	c.(1354-1368)gagaggagtagcctgfs	p.ERSSL452fs	SAP130_ENST00000259234.6_Frame_Shift_Del_p.ERSSL426fs|SAP130_ENST00000357702.5_Frame_Shift_Del_p.ERSSL452fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	452					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.E452fs*1(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATGGGAATCAGGCTACTCCTCTCGGCAGGGTAG	0.549																																																1	Deletion - Frameshift(1)	ovary(1)	2																																								128470473	SO:0001589	frameshift_variant	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1354_1366delGAGAGGAGTAGCC	2.37:g.128753991_128754003delGGCTACTCCTCTC	ENSP00000259235:p.Glu452fs		128470461	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Del	DEL	ENST00000259235.3	37	CCDS2153.1																																																																																				0.549	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		-	128754003	GGCTACTCCTCTC	-	128753991	7	5	271	1	0	1	0	1	0	0	0	0	13834	991	35	0	1929	0	SAP130	2	128753991	Frame_Shift_Del	DEL	GGCTACTCCTCTC	TCGA-24-2254-01A-01W-0722-08	9893198	128753991	114445382	7	15180											
YSK4	80122	broad.mit.edu	37	2	135779323	135779323	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr2:135779323T>A	ENST00000375845.3	-	2	130	c.100A>T	c.(100-102)Aat>Tat	p.N34Y	MAP3K19_ENST00000392918.3_Missense_Mutation_p.N34Y|MAP3K19_ENST00000392915.1_Missense_Mutation_p.N51Y|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.N34Y|MAP3K19_ENST00000392917.3_Missense_Mutation_p.N34Y|MAP3K19_ENST00000358371.4_Missense_Mutation_p.N34Y	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	34							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N34Y(1)									ATGTTTTGATTTTTGGTAACT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											157	141	147					2																	135779323		2203	4300	6503	135495793	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.100A>T	2.37:g.135779323T>A	ENSP00000365005:p.Asn34Tyr		135495793	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	16.71	3.197343	0.58126	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952;ENST00000414343	T;T;T;T;T;T	0.71817	-0.52;-0.52;-0.55;-0.6;-0.5;1.85	4.44	4.44	0.53790	.	0.373374	0.19277	N	0.118255	T	0.77980	0.4212	L	0.57536	1.79	0.80722	D	1	P;D;D;P;D;P;D	0.64830	0.826;0.994;0.983;0.936;0.983;0.867;0.976	B;P;P;P;P;P;P	0.62740	0.365;0.906;0.804;0.568;0.847;0.466;0.556	T	0.78558	-0.2158	10	0.59425	D	0.04	.	10.0351	0.42125	0.0:0.0:0.0:1.0	.	34;34;34;34;51;34;34	B7ZMH9;Q56UN5-2;Q56UN5-3;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;.;YSK4_HUMAN	Y	34;34;34;34;34;51;6;6	ENSP00000365005:N34Y;ENSP00000351140:N34Y;ENSP00000365004:N34Y;ENSP00000376650:N34Y;ENSP00000376649:N34Y;ENSP00000376647:N51Y	ENSP00000351140:N34Y	N	-	1	0	YSK4	135495793	0.997000	0.39634	0.837000	0.33122	0.886000	0.51366	3.685000	0.54678	1.877000	0.54381	0.477000	0.44152	AAT		0.363	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135779323	T	A	135779323	3	1	271	1	0	0	0	0	1	0	0	0	17495	1841	64	5	3922	5	YSK4	2	135779323	Missense_Mutation	SNP	T	TCGA-24-2254-01A-01W-0722-08	7025332	135779323	107420050	8	15181											
MYO3B	140469	broad.mit.edu	37	2	171248912	171248912	+	Silent	SNP	A	A	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr2:171248912A>T	ENST00000408978.4	+	16	1841	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	MYO3B_ENST00000334231.6_Silent_p.G575G|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.G566G	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	566	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.G566G(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGAAACTGGAAGGGTGATGC	0.408																																																1	Substitution - coding silent(1)	ovary(1)	2											111	100	104					2																	171248912		1932	4144	6076	170957158	SO:0001819	synonymous_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1698A>T	2.37:g.171248912A>T			170957158	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																				0.408	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			T	171248912	A	T	171248912	2	4	271	1	0	0	0	0	0	0	0	1	10077	233	9	5		5	MYO3B	2	171248912	Silent	SNP	A	TCGA-24-2254-01A-01W-0722-08	35469589	171248912	71950461	9	15182											
C2orf67	151050	broad.mit.edu	37	2	210888760	210888760	+	Silent	SNP	G	G	C			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr2:210888760G>C	ENST00000281772.9	-	14	2993	c.2730C>G	c.(2728-2730)acC>acG	p.T910T	KANSL1L_ENST00000418791.1_Silent_p.T868T	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	910						histone acetyltransferase complex (GO:0000123)		p.T910T(1)									CACTTACCTTGGTTTCTTGAC	0.363																																																1	Substitution - coding silent(1)	ovary(1)	2											71	69	70					2																	210888760		2203	4300	6503	210597005	SO:0001819	synonymous_variant	151050			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2730C>G	2.37:g.210888760G>C			210597005	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	CCDS33370.1																																																																																				0.363	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		C	210888760	G	C	210888760	2	2	271	1	0	0	0	0	0	0	0	1	2186	1335	47	3		3	C2orf67	2	210888760	Silent	SNP	G	TCGA-24-2254-01A-01W-0722-08	39639848	210888760	32310613	10	15183											
COL6A6	131873	broad.mit.edu	37	3	130284412	130284430	+	Frame_Shift_Del	DEL	ACACACAGTCTCTGTCTTT	ACACACAGTCTCTGTCTTT	-			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	ACACACAGTCTCTGTCTTT	ACACACAGTCTCTGTCTTT	-	-	ACACACAGTCTCTGTCTTT	ACACACAGTCTCTGTCTTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr3:130284412_130284430delACACACAGTCTCTGTCTTT	ENST00000358511.6	+	3	1267_1285	c.1236_1254delACACACAGTCTCTGTCTTT	c.(1234-1254)acacacacagtctctgtctttfs	p.THTVSVF412fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.THTVSVF412fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	412	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.H413fs*37(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCAAATAACACACACAGTCTCTGTCTTTTCAGAGAGGA	0.434																																																1	Deletion - Frameshift(1)	ovary(1)	3																																								131767120	SO:0001589	frameshift_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1236_1254delACACACAGTCTCTGTCTTT	3.37:g.130284412_130284430delACACACAGTCTCTGTCTTT	ENSP00000351310:p.Thr412fs		131767102	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.434	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		-	130284430	ACACACAGTCTCTGTCTTT	-	130284412	7	5	271	1	0	1	0	1	0	0	0	0	3703	146	6	0	1246	0	COL6A6	3	130284412	Frame_Shift_Del	DEL	ACACACAGTCTCTGTCTTT	TCGA-24-2254-01A-01W-0722-08		130284412	67738018	11	15184											
MASP1	5648	broad.mit.edu	37	3	186969527	186969527	+	Silent	SNP	T	T	C			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr3:186969527T>C	ENST00000337774.5	-	7	1295	c.906A>G	c.(904-906)ccA>ccG	p.P302P	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Silent_p.P302P|MASP1_ENST00000392472.2_Silent_p.P189P|MASP1_ENST00000296280.6_Silent_p.P302P|MASP1_ENST00000392470.2_Silent_p.P276P	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	302	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.P302P(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCTGTAGCTCTGGGCACTCAT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	3											108	103	105					3																	186969527		2203	4300	6503	188452221	SO:0001819	synonymous_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.906A>G	3.37:g.186969527T>C			188452221	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	CCDS33907.1																																																																																				0.498	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		C	186969527	T	C	186969527	2	2	271	1	0	0	0	0	0	0	0	1	9322	1567	55	4		4	MASP1	3	186969527	Silent	SNP	T	TCGA-24-2254-01A-01W-0722-08	56685115	186969527	11052903	12	15185											
PLEKHG4B	153478	broad.mit.edu	37	5	156195	156195	+	Nonsense_Mutation	SNP	G	G	T	rs138938524		TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr5:156195G>T	ENST00000283426.6	+	8	1200	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	384							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E384K(2)|p.E384*(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAAGTCGCCGAGTTAATTGA	0.582																																																3	Substitution - Missense(2)|Substitution - Nonsense(1)	large_intestine(2)|ovary(1)	5											125	116	119					5																	156195		2203	4300	6503	209195	SO:0001587	stop_gained	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1150G>T	5.37:g.156195G>T	ENSP00000283426:p.Glu384*		209195		Nonsense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351118	0.41599	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	.	.	.	3.65	0.651	0.17817	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	2.1558	0.03811	0.1172:0.1948:0.4879:0.2001	.	.	.	.	X	384;298	.	ENSP00000283426:E384X	E	+	1	0	PLEKHG4B	209195	0.997000	0.39634	0.000000	0.03702	0.006000	0.05464	5.044000	0.64214	-0.241000	0.09681	-0.373000	0.07131	GAG		0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		T	156195	G	T	156195	4	4	271	1	0	0	0	0	0	1	0	0	12072	1059	37	3	1180	3	PLEKHG4B	5	156195	Nonsense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08		156195	180759065	13	15186											
LIFR	3977	broad.mit.edu	37	5	38523678	38523678	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr5:38523678A>T	ENST00000263409.4	-	5	566	c.404T>A	c.(403-405)aTt>aAt	p.I135N	LIFR_ENST00000453190.2_Missense_Mutation_p.I135N|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	135	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.I135N(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGTATCTGGAATTAAGGCTTT	0.338			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	1	Substitution - Missense(1)	ovary(1)	5											59	65	63					5																	38523678		2202	4300	6502	38559435	SO:0001583	missense	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.404T>A	5.37:g.38523678A>T	ENSP00000263409:p.Ile135Asn		38559435	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049015	0.75846	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.44083	0.93;0.93	5.38	5.38	0.77491	Fibronectin, type III (1);	0.798569	0.12433	N	0.469346	T	0.56077	0.1961	M	0.62723	1.935	0.39663	D	0.970645	D	0.69078	0.997	P	0.56278	0.795	T	0.58440	-0.7636	10	0.87932	D	0	-20.158	11.7852	0.52039	1.0:0.0:0.0:0.0	.	135	P42702	LIFR_HUMAN	N	135	ENSP00000263409:I135N;ENSP00000398368:I135N	ENSP00000263409:I135N	I	-	2	0	LIFR	38559435	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.910000	0.63321	2.021000	0.59480	0.533000	0.62120	ATT		0.338	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		T	38523678	A	T	38523678	3	4	271	1	0	0	0	0	1	0	0	0	8780	101	4	5	2953	5	LIFR	5	38523678	Missense_Mutation	SNP	A	TCGA-24-2254-01A-01W-0722-08	38367483	38523678	142391582	14	15187											
SLC36A3	285641	broad.mit.edu	37	5	150657199	150657199	+	Missense_Mutation	SNP	G	G	A	rs147738288		TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr5:150657199G>A	ENST00000335230.3	-	10	1579	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	SLC36A3_ENST00000377713.3_Missense_Mutation_p.R431C	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	390						integral component of membrane (GO:0016021)		p.R390C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTCCAGGCGGGGGATGAGG	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		18904	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5											47	44	45					5																	150657199		2203	4300	6503	150637392	SO:0001583	missense	285641			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1168C>T	5.37:g.150657199G>A	ENSP00000334750:p.Arg390Cys		150637392	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	CCDS4314.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.36	1.913321	0.33815	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02369	4.32;4.32	4.68	3.78	0.43462	.	0.332746	0.32055	N	0.006654	T	0.08179	0.0204	M	0.86953	2.85	0.49299	D	0.999771	B;B;B	0.24823	0.112;0.078;0.098	B;B;B	0.27887	0.084;0.054;0.035	T	0.02901	-1.1096	10	0.66056	D	0.02	-23.9064	14.3346	0.66581	0.0:0.0:0.8506:0.1493	.	431;390;375	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	C	390;431	ENSP00000334750:R390C;ENSP00000366942:R431C	ENSP00000334750:R390C	R	-	1	0	SLC36A3	150637392	0.927000	0.31430	1.000000	0.80357	0.454000	0.32378	1.561000	0.36342	1.283000	0.44513	0.650000	0.86243	CGC		0.522	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		A	150657199	G	A	150657199	3	1	271	1	0	0	0	0	1	0	0	0	14598	1116	39	1	248	1	SLC36A3	5	150657199	Missense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08	112133521	150657199	30258061	15	15188											
KIAA1191	57179	broad.mit.edu	37	5	175774713	175774713	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr5:175774713A>C	ENST00000298569.4	-	9	1341	c.808T>G	c.(808-810)Ttg>Gtg	p.L270V	KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Missense_Mutation_p.L251V|KIAA1191_ENST00000510164.1_Missense_Mutation_p.L270V|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	270						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)	p.L270V(1)		endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGGGGCTTCAAGGCTGCTGGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	5											108	109	109					5																	175774713		2203	4300	6503	175707319	SO:0001583	missense	57179			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.808T>G	5.37:g.175774713A>C	ENSP00000298569:p.Leu270Val		175707319	B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	37	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398382	0.25205	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164	.	.	.	5.1	3.94	0.45596	.	0.244071	0.41605	D	0.000847	T	0.43500	0.1250	L	0.27053	0.805	0.80722	D	1	B	0.27068	0.167	B	0.27380	0.079	T	0.47995	-0.9073	9	0.66056	D	0.02	-11.4741	10.4896	0.44744	0.9234:0.0:0.0766:0.0	.	270	Q96A73	K1191_HUMAN	V	270;251;270	.	ENSP00000298569:L270V	L	-	1	2	KIAA1191	175707319	1.000000	0.71417	0.905000	0.35620	0.160000	0.22226	4.712000	0.61888	2.039000	0.60335	0.533000	0.62120	TTG		0.572	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		C	175774713	A	C	175774713	3	2	271	1	0	0	0	0	1	0	0	0	8212	69	3	5	113	5	KIAA1191	5	175774713	Missense_Mutation	SNP	A	TCGA-24-2254-01A-01W-0722-08	25117514	175774713	5140547	16	15189											
GCM2	9247	broad.mit.edu	37	6	10875154	10875154	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr6:10875154G>C	ENST00000379491.4	-	5	742	c.595C>G	c.(595-597)Caa>Gaa	p.Q199E	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	199					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.Q199E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTGCTGTCTTGATTTTCTTCT	0.413																																																1	Substitution - Missense(1)	ovary(1)	6											87	83	85					6																	10875154		2203	4300	6503	10983140	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.595C>G	6.37:g.10875154G>C	ENSP00000368805:p.Gln199Glu		10983140	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	9.013	0.982936	0.18889	.	.	ENSG00000124827	ENST00000379491	T	0.67698	-0.28	5.72	5.72	0.89469	.	0.591630	0.19001	N	0.125359	T	0.47116	0.1428	L	0.56769	1.78	0.80722	D	1	P	0.35433	0.501	B	0.29785	0.107	T	0.47761	-0.9092	10	0.27785	T	0.31	-3.4057	13.3542	0.60619	0.0:0.0:0.7244:0.2755	.	199	O75603	GCM2_HUMAN	E	199	ENSP00000368805:Q199E	ENSP00000368805:Q199E	Q	-	1	0	GCM2	10983140	1.000000	0.71417	0.127000	0.21898	0.267000	0.26476	4.158000	0.58150	2.699000	0.92147	0.591000	0.81541	CAA		0.413	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			C	10875154	G	C	10875154	3	2	271	1	0	0	0	0	1	0	0	0	6298	1299	45	3	929	3	GCM2	6	10875154	Missense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08		10875154	160239913	17	15190											
UBR2	23304	broad.mit.edu	37	6	42650839	42650839	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr6:42650839G>T	ENST00000372899.1	+	43	5023	c.4765G>T	c.(4765-4767)Gat>Tat	p.D1589Y	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.D1589Y	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1589					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D1589Y(2)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGTGAAAGAGATGCTATAAG	0.363																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	6											94	92	92					6																	42650839		2203	4299	6502	42758817	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4765G>T	6.37:g.42650839G>T	ENSP00000361990:p.Asp1589Tyr		42758817	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231797	0.39399	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.50001	0.76;0.76	5.21	2.94	0.34122	.	0.969283	0.08554	N	0.928510	T	0.16514	0.0397	N	0.24115	0.695	0.80722	D	1	B;B	0.19583	0.037;0.0	B;B	0.25291	0.059;0.004	T	0.23833	-1.0177	10	0.32370	T	0.25	-16.8452	5.9745	0.19371	0.1479:0.3454:0.5067:0.0	.	1589;1589	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	Y	1589	ENSP00000361990:D1589Y;ENSP00000361992:D1589Y	ENSP00000361990:D1589Y	D	+	1	0	UBR2	42758817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.160000	0.31761	1.081000	0.41110	0.591000	0.81541	GAT		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		T	42650839	G	T	42650839	3	4	271	1	0	0	0	0	1	0	0	0	16902	942	33	3	5081	3	UBR2	6	42650839	Missense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08	31775685	42650839	128464228	18	15191											
C6orf142	90523	broad.mit.edu	37	6	53989552	53989552	+	Silent	SNP	G	G	A	rs145946168	byFrequency	TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr6:53989552G>A	ENST00000274897.5	+	3	614	c.501G>A	c.(499-501)tcG>tcA	p.S167S	MLIP_ENST00000370877.2_Silent_p.S115S|MLIP_ENST00000502396.1_Silent_p.S178S|MLIP_ENST00000370876.2_Silent_p.S105S|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Silent_p.S115S|MLIP_ENST00000514921.1_Silent_p.S167S|MLIP_ENST00000358276.5_Silent_p.S161S	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	167						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.S167S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TAGCTATCTCGTCCAGTCTGG	0.552													G|||	2	0.000399361	0	0.0014	5008	,	,		16304	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	6											80	75	77					6																	53989552		2203	4300	6503	54097511	SO:0001819	synonymous_variant	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.501G>A	6.37:g.53989552G>A			54097511	B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	CCDS4954.1																																																																																				0.552	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		A	53989552	G	A	53989552	2	1	271	1	0	0	0	0	0	0	0	1	2333	1132	40	1		1	C6orf142	6	53989552	Silent	SNP	G	TCGA-24-2254-01A-01W-0722-08	11338713	53989552	117125515	19	15192											
PDSS2	57107	broad.mit.edu	37	6	107595389	107595389	+	Silent	SNP	A	A	C			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr6:107595389A>C	ENST00000369037.4	-	3	751	c.474T>G	c.(472-474)gcT>gcG	p.A158A	PDSS2_ENST00000369031.4_Silent_p.A158A|PDSS2_ENST00000453874.2_Silent_p.A158A	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	158					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.A158A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GTACAAGGAGAGCAATATGAA	0.343																																																1	Substitution - coding silent(1)	ovary(1)	6											77	72	74					6																	107595389		2203	4300	6503	107702082	SO:0001819	synonymous_variant	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"chromosome 6 open reading frame 210"	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.474T>G	6.37:g.107595389A>C			107702082	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	ENST00000369037.4	37	CCDS5059.1																																																																																				0.343	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		C	107595389	A	C	107595389	2	2	271	1	0	0	0	0	0	0	0	1	11694	291	11	5		5	PDSS2	6	107595389	Silent	SNP	A	TCGA-24-2254-01A-01W-0722-08	53605837	107595389	63519678	20	15193											
ARHGAP18	93663	broad.mit.edu	37	6	129959599	129959599	+	Frame_Shift_Del	DEL	T	T	-			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	T	T	-	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr6:129959599delT	ENST00000368149.2	-	3	580	c.492delA	c.(490-492)aaafs	p.K164fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18									p.K164fs*54(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TCTGGTACTGTTTGTTTTTTT	0.413																																																1	Deletion - Frameshift(1)	ovary(1)	6											223	220	221					6																	129959599		2203	4300	6503	130001292	SO:0001589	frameshift_variant	93663			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.492delA	6.37:g.129959599delT	ENSP00000357131:p.Lys164fs		130001292		Frame_Shift_Del	DEL	ENST00000368149.2	37	CCDS34535.1																																																																																				0.413	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		-	129959599	T	-	129959599	7	5	271	1	0	1	0	1	0	0	0	0	868	1722	60	0	1551	0	ARHGAP18	6	129959599	Frame_Shift_Del	DEL	T	TCGA-24-2254-01A-01W-0722-08	22364210	129959599	41155468	21	15194											
RELN	5649	broad.mit.edu	37	7	103301822	103301822	+	Splice_Site	SNP	C	C	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr7:103301822C>T	ENST00000428762.1	-	12	1601		c.e12+1		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.?(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATGTACTTACCCATCACAAA	0.428																																					NSCLC(146;835 1944 15585 22231 52158)											1	Unknown(1)	ovary(1)	7											139	103	115					7																	103301822		2203	4300	6503	103089058	SO:0001630	splice_region_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1441+1G>A	7.37:g.103301822C>T			103089058	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658599	0.47467	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9384	0.92595	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103089058	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	7.421000	0.80204	2.477000	0.83638	0.467000	0.42956	.		0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	T	103301822	C	T	103301822	5	4	271	1	0	0	0	0	0	0	1	0	13223	521	18	2	9156	2	RELN	7	103301822	Splice_Site	SNP	C	TCGA-24-2254-01A-01W-0722-08		103301822	55836841	22	15195											
RHOBTB2	23221	broad.mit.edu	37	8	22864559	22864559	+	Silent	SNP	C	C	T	rs547602967		TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr8:22864559C>T	ENST00000251822.6	+	5	1338	c.801C>T	c.(799-801)gaC>gaT	p.D267D	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.D289D|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.D274D	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	267	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.D267D(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCTGCGCGGACGTCATCCTGG	0.642													C|||	1	0.000199681	0	0.0014	5008	,	,		16413	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	8											87	87	87					8																	22864559		2203	4300	6503	22920504	SO:0001819	synonymous_variant	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.801C>T	8.37:g.22864559C>T			22920504	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	CCDS6034.1																																																																																				0.642	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			T	22864559	C	T	22864559	2	4	271	1	0	0	0	0	0	0	0	1	13337	535	19	1		1	RHOBTB2	8	22864559	Silent	SNP	C	TCGA-24-2254-01A-01W-0722-08		22864559	123499463	23	15196											
KCNK9	51305	broad.mit.edu	37	8	140630763	140630763	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr8:140630763G>A	ENST00000520439.1	-	2	926	c.863C>T	c.(862-864)gCg>gTg	p.A288V	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.A288V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	288					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A288V(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGGGACGTCCGCCTTGTACCT	0.667																																																1	Substitution - Missense(1)	ovary(1)	8											48	53	51					8																	140630763		2203	4300	6503	140699945	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.863C>T	8.37:g.140630763G>A	ENSP00000430676:p.Ala288Val		140699945	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676779	0.47886	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.17528	2.27;2.27;2.27	5.53	3.67	0.42095	.	1.078660	0.07116	N	0.843000	T	0.22282	0.0537	M	0.63843	1.955	0.26385	N	0.976664	B	0.26876	0.162	B	0.25759	0.063	T	0.42258	-0.9462	10	0.15066	T	0.55	.	14.9469	0.71039	0.0:0.2816:0.7184:0.0	.	288	Q9NPC2	KCNK9_HUMAN	V	288	ENSP00000429847:A288V;ENSP00000302166:A288V;ENSP00000430676:A288V	ENSP00000302166:A288V	A	-	2	0	KCNK9	140699945	0.997000	0.39634	0.905000	0.35620	0.886000	0.51366	3.277000	0.51654	0.624000	0.30286	0.591000	0.81541	GCG		0.667	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		A	140630763	G	A	140630763	3	1	271	1	0	0	0	0	1	0	0	0	8072	1087	38	1	265	1	KCNK9	8	140630763	Missense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08	117766204	140630763	5733259	24	15197											
TRPM3	80036	broad.mit.edu	37	9	73151501	73151501	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr9:73151501G>A	ENST00000377110.3	-	25	4735	c.4492C>T	c.(4492-4494)Cgt>Tgt	p.R1498C	TRPM3_ENST00000360823.2_Missense_Mutation_p.R1360C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1347C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1370C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1357C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1360C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1370C|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1502C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1357C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1357C|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1525C			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1523					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.R1370C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTTTGGAACGCTCAATGGTG	0.498																																																1	Substitution - Missense(1)	ovary(1)	9											97	105	103					9																	73151501		2203	4300	6503	72341321	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4492C>T	9.37:g.73151501G>A	ENSP00000366314:p.Arg1498Cys		72341321	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.566397|3.566397	0.65651|0.65651	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.62232	.|0.15;0.06;0.06;0.04;0.15;0.04;0.05;0.06;0.06;0.14	6.02|6.02	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69178|0.69178	0.3082|0.3082	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;D;D;B;B;D;B	.|0.89917	.|0.045;1.0;0.999;0.027;0.045;0.996;0.027	.|B;D;P;B;B;P;B	.|0.70227	.|0.016;0.968;0.858;0.007;0.016;0.788;0.007	T|T	0.72484|0.72484	-0.4279|-0.4279	5|10	.|0.59425	.|D	.|0.04	-5.5052|-5.5052	15.4941|15.4941	0.75634|0.75634	0.0663:0.0:0.9337:0.0|0.0663:0.0:0.9337:0.0	.|.	.|1498;1488;1502;1360;1357;1470;1357	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	V|C	1346|1498;1370;1360;1357;1502;1357;1357;1370;1360;1525	.|ENSP00000366314:R1498C;ENSP00000366310:R1370C;ENSP00000354066:R1360C;ENSP00000366309:R1357C;ENSP00000350140:R1502C;ENSP00000386127:R1357C;ENSP00000379581:R1357C;ENSP00000379587:R1370C;ENSP00000350791:R1360C;ENSP00000389542:R1525C	.|ENSP00000350140:R1502C	A|R	-|-	2|1	0|0	TRPM3|TRPM3	72341321|72341321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.177000|6.177000	0.71961|0.71961	1.561000|1.561000	0.49584|0.49584	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.498	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		A	73151501	G	A	73151501	3	1	271	1	0	0	0	0	1	0	0	0	16587	1087	38	1	635	1	TRPM3	9	73151501	Missense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08		73151501	68061930	25	15198											
GNA14	9630	broad.mit.edu	37	9	80039058	80039058	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr9:80039058C>T	ENST00000341700.6	-	7	1418	c.905G>A	c.(904-906)aGa>aAa	p.R302K	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	302					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R302K(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GATAAAGTCTCTGGCAGCTCT	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											141	133	136					9																	80039058		2203	4300	6503	79228878	SO:0001583	missense	9630			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.905G>A	9.37:g.80039058C>T	ENSP00000365807:p.Arg302Lys		79228878	B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251015	0.39797	.	.	ENSG00000156049	ENST00000341700	D	0.87809	-2.3	6.07	6.07	0.98685	.	0.090958	0.85682	D	0.000000	T	0.79046	0.4380	N	0.17838	0.53	0.33830	D	0.630088	B	0.06786	0.001	B	0.15870	0.014	T	0.77443	-0.2586	10	0.30854	T	0.27	.	14.418	0.67163	0.0:0.9293:0.0:0.0707	.	302	O95837	GNA14_HUMAN	K	302	ENSP00000365807:R302K	ENSP00000365807:R302K	R	-	2	0	GNA14	79228878	0.439000	0.25610	1.000000	0.80357	0.997000	0.91878	0.864000	0.27926	2.884000	0.98904	0.655000	0.94253	AGA		0.408	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			T	80039058	C	T	80039058	3	4	271	1	0	0	0	0	1	0	0	0	6502	913	32	2	166	2	GNA14	9	80039058	Missense_Mutation	SNP	C	TCGA-24-2254-01A-01W-0722-08	6887557	80039058	61174373	26	15199											
ZNF189	7743	broad.mit.edu	37	9	104170904	104170904	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr9:104170904A>G	ENST00000339664.2	+	3	983	c.854A>G	c.(853-855)gAg>gGg	p.E285G	ZNF189_ENST00000259395.4_Missense_Mutation_p.E243G|ZNF189_ENST00000374861.3_Missense_Mutation_p.E271G	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	285					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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.E285G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CACACTGGTGAGAAACCTTAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	9											161	165	164					9																	104170904		2203	4300	6503	103210725	SO:0001583	missense	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.854A>G	9.37:g.104170904A>G	ENSP00000342019:p.Glu285Gly		103210725	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.330275	0.60743	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.27557	1.66;1.66;1.66	4.79	4.79	0.61399	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000144	T	0.53126	0.1777	M	0.73217	2.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.985;0.997	D;D;D	0.79108	0.992;0.927;0.956	T	0.56450	-0.7977	10	0.72032	D	0.01	.	12.9471	0.58379	1.0:0.0:0.0:0.0	.	270;271;285	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	G	271;285;243	ENSP00000363995:E271G;ENSP00000342019:E285G;ENSP00000259395:E243G	ENSP00000259395:E243G	E	+	2	0	ZNF189	103210725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAG		0.403	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		G	104170904	A	G	104170904	3	3	271	1	0	0	0	0	1	0	0	0	17754	304	11	4	864	4	ZNF189	9	104170904	Missense_Mutation	SNP	A	TCGA-24-2254-01A-01W-0722-08	24131846	104170904	37042527	27	15200											
MYBPC3	4607	broad.mit.edu	37	11	47353745	47353745	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr11:47353745C>T	ENST00000545968.1	-	33	3746	c.3692G>A	c.(3691-3693)aGc>aAc	p.S1231N	MYBPC3_ENST00000256993.4_Missense_Mutation_p.S1230N|MYBPC3_ENST00000399249.2_Missense_Mutation_p.S1231N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1231	Ig-like C2-type 7.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.S1231N(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCCCTGCTTGCTGAACATGCG	0.552																																																1	Substitution - Missense(1)	ovary(1)	11	GRCh37	CI014153	MYBPC3	I							86	90	89					11																	47353745		1955	4140	6095	47310321	SO:0001583	missense	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3692G>A	11.37:g.47353745C>T	ENSP00000442795:p.Ser1231Asn		47310321	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465593	0.43839	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.66460	-0.21;-0.21;-0.21	5.46	5.46	0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59293	0.2183	L	0.37697	1.125	0.53005	D	0.999965	B	0.09022	0.002	B	0.20955	0.032	T	0.52866	-0.8518	9	0.23302	T	0.38	.	18.0769	0.89430	0.0:1.0:0.0:0.0	.	1230	Q14896	MYPC3_HUMAN	N	1231;1231;1230	ENSP00000442795:S1231N;ENSP00000382193:S1231N;ENSP00000256993:S1230N	ENSP00000256993:S1230N	S	-	2	0	MYBPC3	47310321	0.383000	0.25156	1.000000	0.80357	0.995000	0.86356	0.350000	0.20079	2.556000	0.86216	0.561000	0.74099	AGC		0.552	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			T	47353745	C	T	47353745	3	4	271	1	0	0	0	0	1	0	0	0	10013	797	28	2	140	2	MYBPC3	11	47353745	Missense_Mutation	SNP	C	TCGA-24-2254-01A-01W-0722-08		47353745	87652771	28	15201											
HRASLS5	117245	broad.mit.edu	37	11	63233592	63233592	+	Missense_Mutation	SNP	C	C	T	rs144730159		TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr11:63233592C>T	ENST00000301790.4	-	5	896	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	HRASLS5_ENST00000540857.1_Missense_Mutation_p.R236Q|HRASLS5_ENST00000539221.1_Intron			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	246							transferase activity, transferring acyl groups (GO:0016746)	p.R246Q(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGCTGGCTCCGGGGTACGCC	0.478																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	11						C	,GLN/ARG,GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	149	112	124		,707,737	4.2	1	11	dbSNP_134	124	1,8595	1.2+/-3.3	0,1,4297	no	intron,missense,missense	HRASLS5	NM_001146728.1,NM_001146729.1,NM_054108.3	,43,43	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	,probably-damaging,probably-damaging	,236/270,246/280	63233592	2,12996	2201	4298	6499	62990168	SO:0001583	missense	117245			AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.737G>A	11.37:g.63233592C>T	ENSP00000301790:p.Arg246Gln		62990168	B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470291	0.63625	2.27E-4	1.16E-4	ENSG00000168004	ENST00000540857;ENST00000301790	T;T	0.28069	1.63;1.63	4.17	4.17	0.49024	NC (1);	0.215456	0.45867	D	0.000323	T	0.44519	0.1297	L	0.60455	1.87	0.26750	N	0.97021	D;D	0.65815	0.993;0.995	P;P	0.59171	0.771;0.853	T	0.23048	-1.0199	10	0.46703	T	0.11	-30.7947	12.2841	0.54783	0.0:1.0:0.0:0.0	.	236;246	F5H4Y9;Q96KN8	.;HRSL5_HUMAN	Q	236;246	ENSP00000444809:R236Q;ENSP00000301790:R246Q	ENSP00000301790:R246Q	R	-	2	0	HRASLS5	62990168	0.097000	0.21791	1.000000	0.80357	0.584000	0.36387	0.570000	0.23653	2.623000	0.88846	0.655000	0.94253	CGG		0.478	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		T	63233592	C	T	63233592	3	4	271	1	0	0	0	0	1	0	0	0	7351	652	23	1	110	1	HRASLS5	11	63233592	Missense_Mutation	SNP	C	TCGA-24-2254-01A-01W-0722-08	15879847	63233592	71772924	29	15202											
CLIP1	6249	broad.mit.edu	37	12	122838999	122838999	+	Splice_Site	SNP	C	C	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr12:122838999C>T	ENST00000540338.1	-	6	1349		c.e6+1		CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site|CLIP1_ENST00000358808.2_Splice_Site			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCTGGGGTCACCTTTTCTCCT	0.512																																																1	Unknown(1)	ovary(1)	12											126	99	108					12																	122838999		2203	4300	6503	121404952	SO:0001630	splice_region_variant	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1307+1G>A	12.37:g.122838999C>T			121404952	A0AVD3|Q17RS4|Q29RG0	Splice_Site	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832195	0.91036	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000450731;ENST00000537004	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIP1	121404952	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	.		0.512	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	Intron	T	122838999	C	T	122838999	5	4	271	1	0	0	0	0	0	0	1	0	3532	521	18	2	3051	2	CLIP1	12	122838999	Splice_Site	SNP	C	TCGA-24-2254-01A-01W-0722-08		122838999	11012896	30	15203											
SCEL	8796	broad.mit.edu	37	13	78176834	78176834	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr13:78176834T>A	ENST00000349847.3	+	17	1107	c.1023T>A	c.(1021-1023)aaT>aaA	p.N341K	SCEL_ENST00000377246.3_Missense_Mutation_p.N321K|SCEL_ENST00000535157.1_Missense_Mutation_p.N319K|SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_Intron	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	341	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.N341K(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CCAGGATGAATAAAACGAGCA	0.348																																																1	Substitution - Missense(1)	ovary(1)	13											132	139	137					13																	78176834		2203	4300	6503	77074835	SO:0001583	missense	8796			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1023T>A	13.37:g.78176834T>A	ENSP00000302579:p.Asn341Lys		77074835	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	T	9.936	1.216138	0.22373	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.21932	1.98;1.98;1.98	3.93	-4.19	0.03835	.	0.866901	0.09752	N	0.760489	T	0.12347	0.0300	L	0.39898	1.24	0.09310	N	1	B;B;B	0.24368	0.082;0.082;0.102	B;B;B	0.26770	0.053;0.053;0.073	T	0.34700	-0.9818	10	0.33940	T	0.23	-1.0741	0.8661	0.01204	0.1516:0.2302:0.3119:0.3063	.	319;321;341	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	K	319;321;341	ENSP00000437895:N319K;ENSP00000366454:N321K;ENSP00000302579:N341K	ENSP00000302579:N341K	N	+	3	2	SCEL	77074835	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.892000	0.04131	-0.861000	0.04094	-0.408000	0.06270	AAT		0.348	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		A	78176834	T	A	78176834	3	1	271	1	0	0	0	0	1	0	0	0	13891	1403	49	5	1085	5	SCEL	13	78176834	Missense_Mutation	SNP	T	TCGA-24-2254-01A-01W-0722-08		78176834	36993044	31	15204											
SRL	6345	broad.mit.edu	37	16	4242677	4242677	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr16:4242677G>A	ENST00000399609.3	-	6	911	c.899C>T	c.(898-900)cCg>cTg	p.P300L	SRL_ENST00000537996.1_Missense_Mutation_p.P258L	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	759	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P300L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						ATGGGTGTCCGGCTTATACTC	0.532																																																1	Substitution - Missense(1)	ovary(1)	16											86	92	90					16																	4242677		1970	4151	6121	4182678	SO:0001583	missense	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.899C>T	16.37:g.4242677G>A	ENSP00000382518:p.Pro300Leu		4182678		Missense_Mutation	SNP	ENST00000399609.3	37	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.146867	0.37923	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	T;T	0.30448	1.53;1.54	5.18	5.18	0.71444	.	0.073557	0.56097	U	0.000036	T	0.26702	0.0653	L	0.31926	0.97	0.80722	D	1	B	0.16396	0.017	B	0.15052	0.012	T	0.03175	-1.1064	10	0.25751	T	0.34	-11.5064	18.4856	0.90828	0.0:0.0:1.0:0.0	.	300	Q86TD4-2	.	L	300;758;258	ENSP00000382518:P300L;ENSP00000440350:P258L	ENSP00000333285:P758L	P	-	2	0	SRL	4182678	1.000000	0.71417	0.965000	0.40720	0.820000	0.46376	6.508000	0.73721	2.679000	0.91253	0.655000	0.94253	CCG		0.532	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		A	4242677	G	A	4242677	3	1	271	1	0	0	0	0	1	0	0	0	15152	1116	39	1	526	1	SRL	16	4242677	Missense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08		4242677	86112076	32	15205											
CDH8	1006	broad.mit.edu	37	16	61854905	61854905	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr16:61854905G>C	ENST00000577390.1	-	6	1902	c.948C>G	c.(946-948)atC>atG	p.I316M	CDH8_ENST00000584337.1_Missense_Mutation_p.I316M|CDH8_ENST00000299345.6_Missense_Mutation_p.I316M|CDH8_ENST00000577730.1_Missense_Mutation_p.I316M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.I316M(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATCTCCATCGATGATATCAT	0.428																																																1	Substitution - Missense(1)	ovary(1)	16											177	137	150					16																	61854905		2203	4300	6503	60412406	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.948C>G	16.37:g.61854905G>C	ENSP00000462701:p.Ile316Met		60412406	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030372	0.35797	.	.	ENSG00000150394	ENST00000299345	T	0.01804	4.63	6.16	0.262	0.15597	Cadherin (4);Cadherin-like (1);	0.090329	0.64402	D	0.000001	T	0.03348	0.0097	N	0.25031	0.7	0.45097	D	0.99811	P;P	0.42456	0.736;0.78	P;P	0.58172	0.834;0.792	T	0.55173	-0.8182	10	0.51188	T	0.08	.	10.7217	0.46044	0.6986:0.0:0.3014:0.0	.	132;316	Q3LID3;P55286	.;CADH8_HUMAN	M	316	ENSP00000299345:I316M	ENSP00000299345:I316M	I	-	3	3	CDH8	60412406	0.866000	0.29940	0.996000	0.52242	0.867000	0.49689	0.068000	0.14531	0.207000	0.20607	-0.247000	0.11927	ATC		0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		C	61854905	G	C	61854905	3	2	271	1	0	0	0	0	1	0	0	0	3116	1048	37	3	1479	3	CDH8	16	61854905	Missense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08	57612228	61854905	28499848	33	15206											
ATP2A3	489	broad.mit.edu	37	17	3850997	3850997	+	Silent	SNP	G	G	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr17:3850997G>T	ENST00000352011.3	-	8	837	c.783C>A	c.(781-783)tcC>tcA	p.S261S	ATP2A3_ENST00000309890.7_Silent_p.S261S|ATP2A3_ENST00000359983.3_Silent_p.S261S|ATP2A3_ENST00000397041.3_Silent_p.S261S|ATP2A3_ENST00000397043.3_Silent_p.S261S|ATP2A3_ENST00000397035.3_Silent_p.S261S|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	261					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.S261S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGATGGCGTGGGACAGCTGCC	0.672																																					GBM(32;29 774 15719 37967)											1	Substitution - coding silent(1)	ovary(1)	17											30	32	31					17																	3850997		2202	4296	6498	3797746	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.783C>A	17.37:g.3850997G>T			3797746	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																				0.672	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		T	3850997	G	T	3850997	2	4	271	1	0	0	0	0	0	0	0	1	1138	1219	43	3		3	ATP2A3	17	3850997	Silent	SNP	G	TCGA-24-2254-01A-01W-0722-08		3850997	77344213	34	15207											
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		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"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	17	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	7518284	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.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		7518284	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	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577559	G	A	7577559	3	1	271	1	0	0	0	0	1	0	0	0	16381	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08	3726562	7577559	73617651	35	15208											
MYH1	4619	broad.mit.edu	37	17	10395823	10395823	+	Silent	SNP	G	G	A			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr17:10395823G>A	ENST00000226207.5	-	40	5824	c.5730C>T	c.(5728-5730)gcC>gcT	p.A1910A	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1910					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1910A(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCGTTCCTCGGCCTCCTCCA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	17											149	137	141					17																	10395823		2203	4300	6503	10336548	SO:0001819	synonymous_variant	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5730C>T	17.37:g.10395823G>A			10336548	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																				0.478	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10395823	G	A	10395823	2	1	271	1	0	0	0	0	0	0	0	1	10029	1103	39	1		1	MYH1	17	10395823	Silent	SNP	G	TCGA-24-2254-01A-01W-0722-08	2818264	10395823	70799387	36	15209											
MC5R	4161	broad.mit.edu	37	18	13826571	13826571	+	Silent	SNP	C	C	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr18:13826571C>T	ENST00000324750.3	+	1	1029	c.807C>T	c.(805-807)taC>taT	p.Y269Y	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	269					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.Y269Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGAACCTCTACTGCTCTCGCT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	18											239	193	208					18																	13826571		2203	4300	6503	13816571	SO:0001819	synonymous_variant	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.807C>T	18.37:g.13826571C>T			13816571	B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	CCDS11868.1																																																																																				0.512	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		T	13826571	C	T	13826571	2	4	271	1	0	0	0	0	0	0	0	1	9367	576	20	2		2	MC5R	18	13826571	Silent	SNP	C	TCGA-24-2254-01A-01W-0722-08		13826571	64250677	37	15210											
DENND1C	79958	broad.mit.edu	37	19	6467577	6467577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr19:6467577G>A	ENST00000381480.2	-	23	2456	c.2344C>T	c.(2344-2346)Caa>Taa	p.Q782*	DENND1C_ENST00000543576.1_Nonsense_Mutation_p.Q738*	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	782					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q782*(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGGGACTTTTGACAGTTGCTG	0.597																																																1	Substitution - Nonsense(1)	ovary(1)	19											42	45	44					19																	6467577		1902	4135	6037	6418577	SO:0001587	stop_gained	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2344C>T	19.37:g.6467577G>A	ENSP00000370889:p.Gln782*		6418577	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Nonsense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831393	0.71258	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	.	.	.	4.52	3.46	0.39613	.	1.102580	0.07247	N	0.865293	.	.	.	.	.	.	0.41529	D	0.988445	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-1.0374	9.0538	0.36392	0.1107:0.0:0.8893:0.0	.	.	.	.	X	782;738	.	ENSP00000370889:Q782X	Q	-	1	0	DENND1C	6418577	0.000000	0.05858	0.039000	0.18376	0.096000	0.18686	0.484000	0.22308	2.251000	0.74343	0.306000	0.20318	CAA		0.597	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		A	6467577	G	A	6467577	4	1	271	1	0	0	0	0	0	1	0	0	4428	1299	45	2	65	2	DENND1C	19	6467577	Nonsense_Mutation	SNP	G	TCGA-24-2254-01A-01W-0722-08		6467577	52661406	38	15211											
CLIP3	25999	broad.mit.edu	37	19	36508837	36508837	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr19:36508837C>T	ENST00000360535.4	-	10	1467	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	CLIP3_ENST00000593074.1_Missense_Mutation_p.A414T|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	414					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.A414T(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGCCTTGGCCCCGTCACGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											81	76	78					19																	36508837		2203	4300	6503	41200677	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1240G>A	19.37:g.36508837C>T	ENSP00000353732:p.Ala414Thr		41200677	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079654	0.20309	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.74106	-0.81	4.77	2.53	0.30540	Cytoskeleton-associated protein, Gly-rich domain (2);	0.441049	0.23642	N	0.046013	T	0.45478	0.1344	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15694	-1.0428	10	0.13108	T	0.6	-16.8177	3.7311	0.08493	0.1662:0.5798:0.1615:0.0925	.	414	Q96DZ5	CLIP3_HUMAN	T	414;296;390	ENSP00000353732:A414T	ENSP00000353732:A414T	A	-	1	0	CLIP3	41200677	0.078000	0.21339	0.867000	0.34043	0.754000	0.42855	0.408000	0.21065	1.243000	0.43853	0.561000	0.74099	GCC		0.612	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		T	36508837	C	T	36508837	3	4	271	1	0	0	0	0	1	0	0	0	3534	739	26	2	423	2	CLIP3	19	36508837	Missense_Mutation	SNP	C	TCGA-24-2254-01A-01W-0722-08	30041260	36508837	22620146	39	15212											
PSG9	5678	broad.mit.edu	37	19	43771977	43771978	+	Frame_Shift_Ins	INS	-	-	C	rs147964831	byFrequency	TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	-	-	C	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr19:43771977_43771978insC	ENST00000270077.3	-	2	484_485	c.388_389insG	c.(388-390)gagfs	p.E130fs	PSG9_ENST00000593948.1_Frame_Shift_Ins_p.E130fs|PSG9_ENST00000596730.1_Frame_Shift_Ins_p.E130fs|PSG9_ENST00000418820.2_Frame_Shift_Ins_p.E130fs|PSG9_ENST00000291752.5_Frame_Shift_Ins_p.E130fs|PSG9_ENST00000244293.7_Frame_Shift_Ins_p.E130fs|PSG9_ENST00000443718.3_Frame_Shift_Ins_p.E130fs	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	130	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E130fs*3(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTCTCTAGTCTCATCACCTCGC	0.465																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								48463818	SO:0001589	frameshift_variant	5678			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.389dupG	19.37:g.43771978_43771978dupC	ENSP00000270077:p.Glu130fs		48463817	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Frame_Shift_Ins	INS	ENST00000270077.3	37	CCDS12618.1																																																																																				0.465	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		C	43771978	-	C	43771977	7	5	271	1	0	1	1	0	0	0	0	0	12665	1551	54	0	911	0	PSG9	19	43771977	Frame_Shift_Ins	INS	-	TCGA-24-2254-01A-01W-0722-08	7263140	43771977	15357006	40	15213											
EMILIN3	90187	broad.mit.edu	37	20	39990364	39990364	+	Silent	SNP	G	G	C			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chr20:39990364G>C	ENST00000332312.3	-	4	2037	c.1845C>G	c.(1843-1845)gcC>gcG	p.A615A		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	615						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.A615A(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GGGACGTGTTGGCAGCCAAGA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	20											64	56	59					20																	39990364		2203	4300	6503	39423778	SO:0001819	synonymous_variant	90187			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1845C>G	20.37:g.39990364G>C			39423778	Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	CCDS13316.1																																																																																				0.587	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		C	39990364	G	C	39990364	2	2	271	1	0	0	0	0	0	0	0	1	5095	1335	47	3		3	EMILIN3	20	39990364	Silent	SNP	G	TCGA-24-2254-01A-01W-0722-08		39990364	23035156	41	15214											
KAL1	3730	broad.mit.edu	37	X	8553413	8553413	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chrX:8553413T>A	ENST00000262648.3	-	6	900	c.751A>T	c.(751-753)Act>Tct	p.T251S		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	251	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T251S(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTTATGTCAGTCAGTTGAACT	0.493																																																1	Substitution - Missense(1)	ovary(1)	X											190	133	152					X																	8553413		2203	4300	6503	8513413	SO:0001583	missense	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.751A>T	X.37:g.8553413T>A	ENSP00000262648:p.Thr251Ser		8513413	B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.766736	0.00651	.	.	ENSG00000011201	ENST00000262648	T	0.57752	0.38	3.74	1.0	0.19881	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.564801	0.19436	N	0.114318	T	0.18383	0.0441	N	0.04203	-0.255	0.21386	N	0.999701	B	0.09022	0.002	B	0.14023	0.01	T	0.19451	-1.0305	10	0.02654	T	1	.	0.7211	0.00941	0.4532:0.1296:0.1376:0.2795	.	251	P23352	KALM_HUMAN	S	251	ENSP00000262648:T251S	ENSP00000262648:T251S	T	-	1	0	KAL1	8513413	0.999000	0.42202	0.019000	0.16419	0.322000	0.28314	1.282000	0.33226	0.258000	0.21686	0.481000	0.45027	ACT		0.493	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		A	8553413	T	A	8553413	3	1	271	1	0	0	0	0	1	0	0	0	7974	1667	58	5	1327	5	KAL1	23	8553413	Missense_Mutation	SNP	T	TCGA-24-2254-01A-01W-0722-08		8553413	146717147	42	15215											
MAP3K15	389840	broad.mit.edu	37	X	19380952	19380952	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chrX:19380952C>G	ENST00000338883.4	-	26	3582	c.3583G>C	c.(3583-3585)Gtt>Ctt	p.V1195L	MAP3K15_ENST00000469203.2_Missense_Mutation_p.V1027L|MAP3K15_ENST00000359173.3_Missense_Mutation_p.V630L|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1195							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.V670L(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTTTTTCAACTAGGTGTTCC	0.333																																																1	Substitution - Missense(1)	ovary(1)	X											95	93	94					X																	19380952		2202	4300	6502	19290873	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3583G>C	X.37:g.19380952C>G	ENSP00000345629:p.Val1195Leu		19290873	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	C	11.15	1.552974	0.27739	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72394	-0.62;-0.65;-0.62	5.91	-2.09	0.07232	.	0.093226	0.42964	U	0.000633	T	0.51483	0.1677	L	0.44542	1.39	0.26929	N	0.966517	B;B	0.21606	0.058;0.008	B;B	0.25987	0.065;0.01	T	0.34527	-0.9825	10	0.20519	T	0.43	.	2.2048	0.03933	0.1075:0.3252:0.3105:0.2568	.	670;1195	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	L	1195;630;1027	ENSP00000345629:V1195L;ENSP00000352093:V630L;ENSP00000428356:V1027L	ENSP00000345629:V1195L	V	-	1	0	MAP3K15	19290873	0.249000	0.23941	0.015000	0.15790	0.978000	0.69477	0.146000	0.16180	-1.030000	0.03312	0.600000	0.82982	GTT		0.333	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		G	19380952	C	G	19380952	3	3	271	1	0	0	0	0	1	0	0	0	9249	565	20	3	374	3	MAP3K15	23	19380952	Missense_Mutation	SNP	C	TCGA-24-2254-01A-01W-0722-08	10827539	19380952	135889608	43	15216											
FAM47C	442444	broad.mit.edu	37	X	37026705	37026705	+	Silent	SNP	C	C	T	rs149618786	byFrequency	TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chrX:37026705C>T	ENST00000358047.3	+	1	274	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	74								p.D74D(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCGCCGTGACGAGTTTTTAC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	X						C		2,3831		0,2,0,1629,571	78	71	74		222	-1	0	X	dbSNP_134	74	5,6723		0,2,3,2426,1869	no	coding-synonymous	FAM47C	NM_001013736.2		0,4,3,4055,2440	TT,TC,T,CC,C		0.0743,0.0522,0.0663		74/1036	37026705	7,10554	2202	4300	6502	36936626	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.222C>T	X.37:g.37026705C>T			36936626	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				0.527	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37026705	C	T	37026705	2	4	271	1	0	0	0	0	0	0	0	1	5571	535	19	1		1	FAM47C	23	37026705	Silent	SNP	C	TCGA-24-2254-01A-01W-0722-08	17645753	37026705	118243855	44	15217											
UPF3B	65109	broad.mit.edu	37	X	118975082	118975082	+	Missense_Mutation	SNP	C	C	T	rs142862074	byFrequency	TCGA-24-2254-01A-01W-0722-08	TCGA-24-2254-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	596d98c4-3af6-494f-b6ea-b8cd1ddabc8e	32aad8d8-ed00-4b3e-bc11-e624973eedf1	g.chrX:118975082C>T	ENST00000276201.2	-	7	833	c.764G>A	c.(763-765)aGa>aAa	p.R255K	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.R255K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	255	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R255K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTCTGGAATTCTGTCTATCTT	0.328													C|||	10	0.00264901	0.0076	0	3775	,	,		13206	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	X						C	LYS/ARG,LYS/ARG	32,3803		0,23,9,1609,562	298	227	251		764,764	4.6	1	X	dbSNP_134	251	0,6727		0,0,0,2428,1871	yes	missense,missense	UPF3B	NM_023010.3,NM_080632.2	26,26	0,23,9,4037,2433	TT,TC,T,CC,C		0.0,0.8344,0.303	benign,benign	255/471,255/484	118975082	32,10530	2203	4299	6502	118859110	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.764G>A	X.37:g.118975082C>T	ENSP00000276201:p.Arg255Lys		118859110	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	CCDS14588.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.492	0.862186	0.17178	0.008344	0.0	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.75589	-0.92;-0.95	4.64	4.64	0.57946	.	0.149111	0.64402	D	0.000008	T	0.46132	0.1377	L	0.27053	0.805	0.41114	D	0.985767	B;B	0.23128	0.08;0.064	B;B	0.16289	0.015;0.013	T	0.47649	-0.9101	10	0.02654	T	1	.	9.4954	0.38984	0.0:0.8978:0.0:0.1022	.	255;255	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	K	255	ENSP00000276201:R255K;ENSP00000245418:R255K	ENSP00000276201:R255K	R	-	2	0	UPF3B	118859110	1.000000	0.71417	0.996000	0.52242	0.839000	0.47603	2.267000	0.43329	2.059000	0.61396	0.538000	0.68166	AGA		0.328	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			T	118975082	C	T	118975082	3	4	271	1	0	0	0	0	1	0	0	0	17006	913	32	2	707	2	UPF3B	23	118975082	Missense_Mutation	SNP	C	TCGA-24-2254-01A-01W-0722-08	81948377	118975082	36295478	45	15218											
TRIT1	54802	broad.mit.edu	37	1	40315884	40315884	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	-	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr1:40315884delG	ENST00000316891.5	-	5	624	c.610delC	c.(610-612)catfs	p.H204fs	TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Frame_Shift_Del_p.H204fs|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Frame_Shift_Del_p.H124fs|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	204					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)	p.H204fs*16(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGTTGACGATGGAGAAATTCA	0.463																																																1	Deletion - Frameshift(1)	ovary(1)	1											79	76	77					1																	40315884		2203	4300	6503	40088471	SO:0001589	frameshift_variant	54802			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.610delC	1.37:g.40315884delG	ENSP00000321810:p.His204fs		40088471	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Frame_Shift_Del	DEL	ENST00000316891.5	37	CCDS30681.1																																																																																				0.463	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		-	40315884	G	-	40315884	7	5	272	1	0	1	0	1	0	0	0	0	16560	1348	47	0	821	0	TRIT1	1	40315884	Frame_Shift_Del	DEL	G	TCGA-24-2260-01A-01W-0722-08		40315884	208934737	1	15219											
PTPRC	5788	broad.mit.edu	37	1	198697499	198697499	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr1:198697499C>T	ENST00000367376.2	+	16	1916	c.1745C>T	c.(1744-1746)gCa>gTa	p.A582V	PTPRC_ENST00000352140.3_Missense_Mutation_p.A534V|PTPRC_ENST00000442510.2_Missense_Mutation_p.A584V|PTPRC_ENST00000348564.6_Missense_Mutation_p.A423V|PTPRC_ENST00000594404.1_Missense_Mutation_p.A421V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	582					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A582V(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCATTTCTGGCATTTCTGATT	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											120	126	124					1																	198697499		2202	4299	6501	196964122	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1745C>T	1.37:g.198697499C>T	ENSP00000356346:p.Ala582Val		196964122	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	2.627	-0.287192	0.05605	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.02067	4.47	5.47	-3.06	0.05379	.	1.024570	0.07794	N	0.955408	T	0.00906	0.0030	N	0.01228	-0.945	0.19775	N	0.999956	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.11329	0.006;0.003;0.002;0.002;0.002	T	0.47262	-0.9131	10	0.02654	T	1	.	13.0639	0.59022	0.0:0.4427:0.0:0.5573	.	518;518;423;534;582	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	V	584;518;534;534;468;582;516;421	ENSP00000193532:A534V	ENSP00000306782:A421V	A	+	2	0	PTPRC	196964122	0.002000	0.14202	0.147000	0.22382	0.924000	0.55760	-0.238000	0.08977	-0.470000	0.06901	0.603000	0.83216	GCA		0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	198697499	C	T	198697499	3	4	272	1	0	0	0	0	1	0	0	0	12800	710	25	2	1814	2	PTPRC	1	198697499	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08	158381615	198697499	50553122	2	15220											
SLC30A1	7779	broad.mit.edu	37	1	211749236	211749242	+	Frame_Shift_Del	DEL	CAGATTC	CAGATTC	-			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	CAGATTC	CAGATTC	-	-	CAGATTC	CAGATTC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr1:211749236_211749242delCAGATTC	ENST00000367001.4	-	2	1141_1147	c.1012_1018delGAATCTG	c.(1012-1020)gaatctgctfs	p.ESA338fs		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	338					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)	p.E338fs*17(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AGAATAAGAGCAGATTCCTTAAGTAAT	0.338																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								209815865	SO:0001589	frameshift_variant	7779			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.1012_1018delGAATCTG	1.37:g.211749236_211749242delCAGATTC	ENSP00000355968:p.Glu338fs		209815859	Q0VAK9|Q9BZF6	Frame_Shift_Del	DEL	ENST00000367001.4	37	CCDS1499.1																																																																																				0.338	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			-	211749242	CAGATTC	-	211749236	7	5	272	1	0	1	0	1	0	0	0	0	14556	710	25	0	509	0	SLC30A1	1	211749236	Frame_Shift_Del	DEL	CAGATTC	TCGA-24-2260-01A-01W-0722-08	13051737	211749236	37501385	3	15221											
CGREF1	10669	broad.mit.edu	37	2	27324965	27324965	+	Splice_Site	SNP	C	C	T	rs202193679		TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr2:27324965C>T	ENST00000260595.5	-	5	634	c.342G>A	c.(340-342)ccG>ccA	p.P114P	CGREF1_ENST00000402550.1_Splice_Site_p.P114P|CGREF1_ENST00000402394.1_Splice_Site_p.P114P|CGREF1_ENST00000405600.1_Splice_Site_p.P114P|CGREF1_ENST00000404694.3_Splice_Site_p.P236P|CGREF1_ENST00000312734.4_Splice_Site_p.P114P|CGREF1_ENST00000452318.2_Splice_Site_p.P18P			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	114	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.P114P(1)		kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGCTTACCGGGTTGGTGG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	2						C	,,,	0,4406		0,0,2203	48	50	49		342,342,54,342	0.9	1	2		49	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	CGREF1	NM_001166239.1,NM_001166240.1,NM_001166241.1,NM_006569.5	,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,	114/319,114/133,18/113,114/319	27324965	3,13003	2203	4300	6503	27178469	SO:0001630	splice_region_variant	10669			BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.342+1G>A	2.37:g.27324965C>T			27178469	A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Silent	SNP	ENST00000260595.5	37																																																																																					0.537	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569	Silent	T	27324965	C	T	27324965	5	4	272	1	0	0	0	0	0	0	1	0	3305	666	23	1	814	1	CGREF1	2	27324965	Splice_Site	SNP	C	TCGA-24-2260-01A-01W-0722-08		27324965	215874408	4	15222											
HEATR5B	54497	broad.mit.edu	37	2	37227732	37227732	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr2:37227732G>T	ENST00000233099.5	-	33	5637	c.5542C>A	c.(5542-5544)Cca>Aca	p.P1848T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.P1759T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1848						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.P1848T(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGGTTACCTGGTTGAGAATAT	0.383																																																1	Substitution - Missense(1)	ovary(1)	2											99	94	96					2																	37227732		2203	4300	6503	37081236	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5542C>A	2.37:g.37227732G>T	ENSP00000233099:p.Pro1848Thr		37081236	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	7.868	0.727617	0.15439	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.63096	-0.02;-0.02	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	L	0.31476	0.935	0.32233	N	0.573652	B;B	0.02656	0.0;0.0	B;B	0.13407	0.009;0.004	T	0.49380	-0.8946	10	0.09084	T	0.74	.	18.6774	0.91534	0.0:0.0:1.0:0.0	.	1848;1848	Q9P2D3;B9EK47	HTR5B_HUMAN;.	T	1848;1759	ENSP00000233099:P1848T;ENSP00000346531:P1759T	ENSP00000233099:P1848T	P	-	1	0	HEATR5B	37081236	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.676000	0.68131	2.409000	0.81822	0.591000	0.81541	CCA		0.383	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		T	37227732	G	T	37227732	3	4	272	1	0	0	0	0	1	0	0	0	7032	1261	44	3	689	3	HEATR5B	2	37227732	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08	9902767	37227732	205971641	5	15223											
FANCL	55120	broad.mit.edu	37	2	58449122	58449122	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr2:58449122A>G	ENST00000233741.4	-	5	365	c.329T>C	c.(328-330)tTc>tCc	p.F110S	FANCL_ENST00000540646.1_Missense_Mutation_p.F110S|FANCL_ENST00000403676.1_Intron|FANCL_ENST00000402135.3_Missense_Mutation_p.F110S|FANCL_ENST00000481670.1_5'UTR|FANCL_ENST00000403295.3_Missense_Mutation_p.F110S	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	110	UBC-RWD region (URD).				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F110S(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						GCTTGAGTAGAACTGGGGAGG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							1	Substitution - Missense(1)	ovary(1)	2											103	103	103					2																	58449122		2203	4300	6503	58302626	SO:0001583	missense	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"Zinc fingers, PHD-type", "Fanconi anemia, complementation groups"	20748	protein-coding gene	gene with protein product		608111	"PHD finger protein 9"	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.329T>C	2.37:g.58449122A>G	ENSP00000233741:p.Phe110Ser		58302626	Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763514	0.49574	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000449070;ENST00000540646	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.4	0.826	0.18829	Fanconi anemia complex, subunit FancL, WD-repeat containing domain (1);	0.108211	0.64402	D	0.000004	T	0.46328	0.1387	L	0.58101	1.795	0.32438	N	0.547105	P;B;D;D	0.60575	0.789;0.056;0.988;0.96	P;B;P;P	0.54312	0.545;0.086;0.709;0.748	T	0.56074	-0.8039	10	0.39692	T	0.17	-11.9476	9.0535	0.36392	0.3948:0.0:0.0:0.6052	.	51;110;110;110	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	S	110;110;110;51;110	ENSP00000386097:F110S;ENSP00000233741:F110S;ENSP00000385021:F110S;ENSP00000401280:F51S;ENSP00000441431:F110S	ENSP00000233741:F110S	F	-	2	0	FANCL	58302626	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.305000	0.33493	0.390000	0.25115	0.379000	0.24179	TTC		0.353	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		G	58449122	A	G	58449122	3	3	272	1	0	0	0	0	1	0	0	0	5670	246	9	4	853	4	FANCL	2	58449122	Missense_Mutation	SNP	A	TCGA-24-2260-01A-01W-0722-08	21221390	58449122	184750251	6	15224											
POU3F3	5455	broad.mit.edu	37	2	105473036	105473036	+	Silent	SNP	G	G	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr2:105473036G>A	ENST00000361360.2	+	1	1068	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	356	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S356S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACGTGTTCTCGCAGACCACCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	2											89	79	83					2																	105473036		2203	4300	6503	104839468	SO:0001819	synonymous_variant	5455				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1068G>A	2.37:g.105473036G>A			104839468	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	CCDS33265.1																																																																																				0.612	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			A	105473036	G	A	105473036	2	1	272	1	0	0	0	0	0	0	0	1	12276	1074	38	1		1	POU3F3	2	105473036	Silent	SNP	G	TCGA-24-2260-01A-01W-0722-08	47023914	105473036	137726337	7	15225											
ZC3H6	376940	broad.mit.edu	37	2	113089707	113089707	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr2:113089707C>T	ENST00000409871.1	+	12	3613	c.3212C>T	c.(3211-3213)tCa>tTa	p.S1071L	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S1071L|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1071							metal ion binding (GO:0046872)	p.S1071L(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGAGAAAACTCAAAGAACCAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											45	42	43					2																	113089707		1869	4108	5977	112806178	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3212C>T	2.37:g.113089707C>T	ENSP00000386764:p.Ser1071Leu		112806178	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	C	7.158	0.585032	0.13749	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.15017	2.46;2.46	5.33	2.38	0.29361	.	2.194330	0.01585	N	0.021297	T	0.10594	0.0259	N	0.08118	0	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.24225	-1.0166	10	0.62326	D	0.03	0.0299	4.7269	0.12945	0.1149:0.3408:0.4515:0.0929	.	1071	P61129	ZC3H6_HUMAN	L	1071	ENSP00000386764:S1071L;ENSP00000340298:S1071L	ENSP00000340298:S1071L	S	+	2	0	ZC3H6	112806178	0.948000	0.32251	0.670000	0.29842	0.838000	0.47535	1.354000	0.34056	0.575000	0.29434	0.591000	0.81541	TCA		0.433	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		T	113089707	C	T	113089707	3	4	272	1	0	0	0	0	1	0	0	0	17571	838	29	2	3258	2	ZC3H6	2	113089707	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08	7616671	113089707	130109666	8	15226											
DPP10	57628	broad.mit.edu	37	2	116510801	116510801	+	Silent	SNP	A	A	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr2:116510801A>T	ENST00000410059.1	+	11	1482	c.1002A>T	c.(1000-1002)gtA>gtT	p.V334V	DPP10_ENST00000393147.2_Silent_p.V338V|DPP10_ENST00000310323.8_Silent_p.V327V|DPP10_ENST00000409163.1_Silent_p.V284V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	334						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.V327V(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGACTGTGGTAAGATGGTTAA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	2											121	107	112					2																	116510801		2203	4300	6503	116227271	SO:0001819	synonymous_variant	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1002A>T	2.37:g.116510801A>T			116227271	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	CCDS46400.1																																																																																				0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		T	116510801	A	T	116510801	2	4	272	1	0	0	0	0	0	0	0	1	4727	349	13	5		5	DPP10	2	116510801	Silent	SNP	A	TCGA-24-2260-01A-01W-0722-08	3421094	116510801	126688572	9	15227											
TTC21B	79809	broad.mit.edu	37	2	166797568	166797568	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr2:166797568C>A	ENST00000243344.7	-	6	816	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	227				D -> N (in Ref. 1; BAE45724). {ECO:0000305}.	forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.D227Y(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGGTCCCAATCCTGCAAGGCT	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											107	106	106					2																	166797568		2203	4300	6503	166505814	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.679G>T	2.37:g.166797568C>A	ENSP00000243344:p.Asp227Tyr		166505814	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349038	0.82132	.	.	ENSG00000123607	ENST00000243344	T	0.60424	0.19	5.2	5.2	0.72013	Tetratricopeptide-like helical (1);	0.094053	0.64402	D	0.000001	T	0.80813	0.4695	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.986;0.99	D	0.84556	0.0647	10	0.87932	D	0	-18.6507	19.0941	0.93242	0.0:1.0:0.0:0.0	.	227;227	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	Y	227	ENSP00000243344:D227Y	ENSP00000243344:D227Y	D	-	1	0	TTC21B	166505814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.926000	0.63433	2.578000	0.87016	0.650000	0.86243	GAT		0.388	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		A	166797568	C	A	166797568	3	1	272	1	0	0	0	0	1	0	0	0	16688	855	30	3	3367	3	TTC21B	2	166797568	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08	50286767	166797568	76401805	10	15228											
EBLN2	55096	broad.mit.edu	37	3	73111514	73111514	+	Silent	SNP	A	A	G			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr3:73111514A>G	ENST00000533473.1	+	1	705	c.282A>G	c.(280-282)caA>caG	p.Q94Q	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	94										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TGGAACCCCAACCCAGCATTG	0.463																																																0			3											38	36	37					3																	73111514		1923	4117	6040	73194204	SO:0001819	synonymous_variant	55096				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.282A>G	3.37:g.73111514A>G			73194204	Q8WWH3|Q9NW89	Silent	SNP	ENST00000533473.1	37	CCDS54608.1																																																																																				0.463	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		G	73111514	A	G	73111514	2	3	272	1	0	0	0	0	0	0	0	1	4884	40	2	4		4	EBLN2	3	73111514	Silent	SNP	A	TCGA-24-2260-01A-01W-0722-08		73111514	124910916	11	15229											
OTOP1	133060	broad.mit.edu	37	4	4199527	4199527	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr4:4199527G>A	ENST00000296358.4	-	5	1058	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	345					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.S345L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATGAGTGCCGACTCGCTCTT	0.572																																																1	Substitution - Missense(1)	ovary(1)	4											50	49	49					4																	4199527		2203	4300	6503	4250428	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1034C>T	4.37:g.4199527G>A	ENSP00000296358:p.Ser345Leu		4250428	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	7.641	0.680814	0.14907	.	.	ENSG00000163982	ENST00000296358	T	0.19250	2.16	4.8	3.06	0.35304	.	0.533330	0.19534	N	0.111964	T	0.10809	0.0264	N	0.12471	0.22	0.31646	N	0.647446	B	0.23316	0.083	B	0.18871	0.023	T	0.11227	-1.0596	10	0.36615	T	0.2	-14.2535	7.9361	0.29931	0.3488:0.0:0.6512:0.0	.	345	Q7RTM1	OTOP1_HUMAN	L	345	ENSP00000296358:S345L	ENSP00000296358:S345L	S	-	2	0	OTOP1	4250428	0.897000	0.30589	0.862000	0.33874	0.271000	0.26615	1.457000	0.35212	0.557000	0.29117	0.404000	0.27445	TCG		0.572	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		A	4199527	G	A	4199527	3	1	272	1	0	0	0	0	1	0	0	0	11305	1059	37	1	812	1	OTOP1	4	4199527	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08		4199527	186954749	12	15230											
LNX1	84708	broad.mit.edu	37	4	54424124	54424124	+	Intron	SNP	C	C	T	rs200583618		TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr4:54424124C>T	ENST00000263925.7	-	2	695				LNX1_ENST00000306888.2_Silent_p.A3A|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase						protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A3A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCAACAGAAGCGCCTTCATTC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	4						T	,	0,4406		0,0,2203	169	141	150		,9	0.6	1	4		150	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	LNX1	NM_001126328.1,NM_032622.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,3/633	54424124	1,13005	2203	4300	6503	54118881	SO:0001627	intron_variant	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.380+15665G>A	4.37:g.54424124C>T			54118881	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	37	CCDS47057.1																																																																																				0.532	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			T	54424124	C	T	54424124	1	4	272	0	1	0	0	0	0	0	0	0	8865	755	27	1		1	LNX1	4	54424124	Intron	SNP	C	TCGA-24-2260-01A-01W-0722-08	50224597	54424124	136730152	13	15231											
DDIT4L	115265	broad.mit.edu	37	4	101108838	101108838	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr4:101108838G>A	ENST00000273990.2	-	3	792	c.578C>T	c.(577-579)tCc>tTc	p.S193F	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	193					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.S193F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CCCTTTTTAGGACCCTTCAAT	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											40	45	43					4																	101108838		2202	4298	6500	101327861	SO:0001583	missense	115265			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"regulated in development and DNA damage response 2", " similar to Smhs1 protein"	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.578C>T	4.37:g.101108838G>A	ENSP00000354830:p.Ser193Phe		101327861	B2R7C3	Missense_Mutation	SNP	ENST00000273990.2	37	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397650	0.42512	.	.	ENSG00000145358	ENST00000273990	T	0.47177	0.85	5.86	4.12	0.48240	.	0.287924	0.39210	N	0.001421	T	0.28300	0.0699	N	0.08118	0	0.26738	N	0.970455	B	0.12630	0.006	B	0.15052	0.012	T	0.24476	-1.0159	10	0.87932	D	0	-8.9248	10.9982	0.47589	0.0:0.7918:0.1355:0.0727	.	193	Q96D03	DDT4L_HUMAN	F	193	ENSP00000354830:S193F	ENSP00000354830:S193F	S	-	2	0	DDIT4L	101327861	1.000000	0.71417	0.960000	0.40013	0.685000	0.39939	2.157000	0.42320	0.803000	0.34113	-0.165000	0.13383	TCC		0.378	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		A	101108838	G	A	101108838	3	1	272	1	0	0	0	0	1	0	0	0	4332	1174	41	2	7	2	DDIT4L	4	101108838	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08	46684714	101108838	90045438	14	15232											
TSSK1B	83942	broad.mit.edu	37	5	112769842	112769842	+	Missense_Mutation	SNP	C	C	T	rs192780356	byFrequency	TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr5:112769842C>T	ENST00000390666.3	-	1	886	c.695G>A	c.(694-696)cGc>cAc	p.R232H	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R232H(1)|p.R232L(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GAAGTTGACGCGGTGCTCCTT	0.587													C|||	4	0.000798722	0.0015	0	5008	,	,		21332	0		0	False		,,,				2504	0.002															2	Substitution - Missense(2)	ovary(1)|lung(1)	5											81	74	76					5																	112769842		2202	4300	6502	112797741	SO:0001583	missense	83942			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.695G>A	5.37:g.112769842C>T	ENSP00000375081:p.Arg232His		112797741	B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	CCDS4112.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	2.627	-0.287221	0.05605	.	.	ENSG00000212122	ENST00000390666	T	0.66099	-0.19	0.9	0.9	0.19278	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	0.34555	U	0.003870	T	0.44561	0.1299	L	0.27053	0.805	0.09310	N	1	P	0.41710	0.76	B	0.41646	0.362	T	0.38585	-0.9654	10	0.87932	D	0	.	4.9573	0.14048	0.0:1.0:0.0:0.0	.	232	Q9BXA7	TSSK1_HUMAN	H	232	ENSP00000375081:R232H	ENSP00000375081:R232H	R	-	2	0	TSSK1B	112797741	0.000000	0.05858	0.527000	0.27925	0.126000	0.20510	0.432000	0.21461	0.308000	0.22923	0.313000	0.20887	CGC		0.587	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		T	112769842	C	T	112769842	3	4	272	1	0	0	0	0	1	0	0	0	16668	768	27	1	412	1	TSSK1B	5	112769842	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08		112769842	68145418	15	15233											
PCDHA4	56144	broad.mit.edu	37	5	140186856	140186856	+	Silent	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr5:140186856C>T	ENST00000530339.1	+	1	84	c.84C>T	c.(82-84)aaC>aaT	p.N28N	PCDHA4_ENST00000512229.2_Silent_p.N28N|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.N28N	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	28					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N28N(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAGGGAACGGTCAGCTCC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	5											64	71	69					5																	140186856		2203	4300	6503	140167040	SO:0001819	synonymous_variant	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.84C>T	5.37:g.140186856C>T			140167040	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																				0.627	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140186856	C	T	140186856	2	4	272	1	0	0	0	0	0	0	0	1	11526	535	19	1		1	PCDHA4	5	140186856	Silent	SNP	C	TCGA-24-2260-01A-01W-0722-08	27417014	140186856	40728404	16	15234											
GABRG2	2566	broad.mit.edu	37	5	161576234	161576234	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr5:161576234C>G	ENST00000361925.4	+	8	1263	c.1043C>G	c.(1042-1044)tCt>tGt	p.S348C	GABRG2_ENST00000414552.2_Missense_Mutation_p.S388C|GABRG2_ENST00000356592.3_Missense_Mutation_p.S348C|GABRG2_ENST00000393933.4_Missense_Mutation_p.S253C			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	348					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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.S348C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTGTCTTCTCTGCTCTGGTG	0.443																																																1	Substitution - Missense(1)	ovary(1)	5											237	195	209					5																	161576234		2203	4300	6503	161508812	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1043C>G	5.37:g.161576234C>G	ENSP00000354651:p.Ser348Cys		161508812	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929532	0.52759	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.61	5.61	0.85477	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.051120	0.85682	D	0.000000	D	0.84960	0.5588	N	0.05199	-0.095	0.54753	D	0.999982	P;B;B	0.46912	0.886;0.0;0.0	P;B;B	0.55999	0.789;0.004;0.004	D	0.87401	0.2369	10	0.49607	T	0.09	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	388;348;348	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	C	348;388;348;253	ENSP00000349000:S348C;ENSP00000410732:S388C;ENSP00000354651:S348C;ENSP00000377510:S253C	ENSP00000349000:S348C	S	+	2	0	GABRG2	161508812	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.726000	0.84824	2.630000	0.89119	0.650000	0.86243	TCT		0.443	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			G	161576234	C	G	161576234	3	3	272	1	0	0	0	0	1	0	0	0	6172	913	32	3	1197	3	GABRG2	5	161576234	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08	21389378	161576234	19339026	17	15235											
BBS9	27241	broad.mit.edu	37	7	33195288	33195288	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr7:33195288G>A	ENST00000242067.6	+	4	823	c.302G>A	c.(301-303)aGa>aAa	p.R101K	BBS9_ENST00000354265.4_Missense_Mutation_p.R101K|BBS9_ENST00000350941.3_Missense_Mutation_p.R101K|BBS9_ENST00000425508.2_Missense_Mutation_p.R56K|BBS9_ENST00000396127.2_Missense_Mutation_p.R101K|BBS9_ENST00000355070.2_Missense_Mutation_p.R101K	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	101					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R101K(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTACATTCTAGAAAACTTTGT	0.303									Bardet-Biedl syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											84	81	82					7																	33195288		2202	4298	6500	33161813	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.302G>A	7.37:g.33195288G>A	ENSP00000242067:p.Arg101Lys		33161813	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972115	0.74246	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	L	0.50847	1.595	0.35106	D	0.765748	P;B;P;B;B	0.41450	0.75;0.174;0.51;0.174;0.174	B;B;P;B;B	0.47015	0.217;0.163;0.534;0.163;0.336	D	0.85338	0.1094	9	.	.	.	-20.7266	13.1415	0.59438	0.0805:0.0:0.9195:0.0	.	101;101;101;101;101	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	K	101;101;101;101;101;101;101;56	ENSP00000242067:R101K;ENSP00000313122:R101K;ENSP00000379433:R101K;ENSP00000347182:R101K;ENSP00000346214:R101K;ENSP00000405151:R56K	.	R	+	2	0	BBS9	33161813	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.182000	0.71995	2.682000	0.91365	0.557000	0.71058	AGA		0.303	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			A	33195288	G	A	33195288	3	1	272	1	0	0	0	0	1	0	0	0	1342	942	33	2	312	2	BBS9	7	33195288	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08		33195288	125943375	18	15236											
EBF2	64641	broad.mit.edu	37	8	25718648	25718648	+	Missense_Mutation	SNP	G	G	A	rs371873709		TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr8:25718648G>A	ENST00000520164.1	-	13	1796	c.1259C>T	c.(1258-1260)gCg>gTg	p.A420V	EBF2_ENST00000408929.3_Missense_Mutation_p.A272V|EBF2_ENST00000535548.1_Missense_Mutation_p.A151V	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	420					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A420V(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCCACTGTGCGCTGGGGAGCT	0.522																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											1	Substitution - Missense(1)	ovary(1)	8						G	VAL/ALA	1,4055		0,1,2027	112	117	115		1259	5.3	1	8		115	0,8386		0,0,4193	no	missense	EBF2	NM_022659.2	64	0,1,6220	AA,AG,GG		0.0,0.0247,0.0080	benign	420/576	25718648	1,12441	2028	4193	6221	25774565	SO:0001583	missense	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1259C>T	8.37:g.25718648G>A	ENSP00000430241:p.Ala420Val		25774565	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	2.706	-0.269788	0.05716	2.47E-4	0.0	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.40756	1.02;1.02;1.02	5.29	5.29	0.74685	.	0.097978	0.64402	D	0.000001	T	0.21468	0.0517	N	0.04203	-0.255	0.50467	D	0.999876	B	0.09022	0.002	B	0.08055	0.003	T	0.09079	-1.0691	10	0.25106	T	0.35	-4.7849	12.3066	0.54906	0.0775:0.0:0.9224:0.0	.	420	Q9HAK2	COE2_HUMAN	V	420;272;151	ENSP00000430241:A420V;ENSP00000386178:A272V;ENSP00000437909:A151V	ENSP00000386178:A272V	A	-	2	0	EBF2	25774565	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	5.534000	0.67167	2.476000	0.83614	0.655000	0.94253	GCG		0.522	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		A	25718648	G	A	25718648	3	1	272	1	0	0	0	0	1	0	0	0	4881	1087	38	1	484	1	EBF2	8	25718648	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08		25718648	120645374	19	15237											
ADAMTSL2	9719	broad.mit.edu	37	9	136412308	136412308	+	Silent	SNP	G	G	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr9:136412308G>T	ENST00000354484.4	+	9	1469	c.912G>T	c.(910-912)ggG>ggT	p.G304G	ADAMTSL2_ENST00000393061.3_Silent_p.G413G|ADAMTSL2_ENST00000393060.1_Silent_p.G304G	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	304					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G304G(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGGCACAGGGGCCCACCAACC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	9											133	128	130					9																	136412308		2203	4300	6503	135402129	SO:0001819	synonymous_variant	9719			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.912G>T	9.37:g.136412308G>T			135402129	B1B0D5|O60345	Silent	SNP	ENST00000354484.4	37	CCDS6976.1																																																																																				0.617	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		T	136412308	G	T	136412308	2	4	272	1	0	0	0	0	0	0	0	1	275	1190	42	3		3	ADAMTSL2	9	136412308	Silent	SNP	G	TCGA-24-2260-01A-01W-0722-08		136412308	4801123	20	15238											
PCDH15	65217	broad.mit.edu	37	10	55566629	55566629	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr10:55566629G>C	ENST00000373965.2	-	36	5159	c.4765C>G	c.(4765-4767)Cat>Gat	p.H1589D	PCDH15_ENST00000414778.1_Missense_Mutation_p.H1586D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.H1586D(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTCCTCATGTGTCACTGCC	0.483										HNSCC(58;0.16)																																						1	Substitution - Missense(1)	ovary(1)	10											238	219	225					10																	55566629		1568	3582	5150	55236635	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4765C>G	10.37:g.55566629G>C	ENSP00000363076:p.His1589Asp		55236635	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37		.	.	.	.	.	.	.	.	.	.	G	15.53	2.861687	0.51482	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.62105	0.05;0.09	5.86	4.94	0.65067	.	.	.	.	.	T	0.57519	0.2059	L	0.47716	1.5	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.16289	0.015;0.015	T	0.56444	-0.7978	9	0.66056	D	0.02	.	15.773	0.78187	0.0:0.0:0.8626:0.1374	.	1580;1586	C6ZEF7;C9J4F3	.;.	D	1589;1586;1582	ENSP00000363076:H1589D;ENSP00000410304:H1586D	ENSP00000363076:H1589D	H	-	1	0	PCDH15	55236635	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.592000	0.82676	1.420000	0.47138	0.655000	0.94253	CAT		0.483	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		C	55566629	G	C	55566629	3	2	272	1	0	0	0	0	1	0	0	0	11511	1377	48	3	293	3	PCDH15	10	55566629	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08		55566629	79968118	21	15239											
OR52I1	390037	broad.mit.edu	37	11	4615663	4615663	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr11:4615663A>G	ENST00000530443.2	+	1	395	c.395A>G	c.(394-396)aAg>aGg	p.K132R	OR52I1_ENST00000450052.2_Missense_Mutation_p.K156R	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K157R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATCTGCAAGCCTCTACAC	0.502																																																1	Substitution - Missense(1)	ovary(1)	11											59	54	56					11																	4615663		2201	4295	6496	4572239	SO:0001583	missense	390037			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.395A>G	11.37:g.4615663A>G	ENSP00000436453:p.Lys132Arg		4572239	Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351904	0.24512	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.00397	7.57;7.57	4.96	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.141770	0.32015	N	0.006711	T	0.00271	0.0008	L	0.35644	1.08	0.26049	N	0.981506	P	0.34800	0.469	B	0.38954	0.286	T	0.55108	-0.8192	9	0.27082	T	0.32	-11.4129	8.9243	0.35630	0.9107:0.0:0.0893:0.0	.	132	Q8NGK6	O52I1_HUMAN	R	156;132	ENSP00000409094:K156R;ENSP00000436453:K132R	ENSP00000409094:K156R	K	+	2	0	OR52I1	4572239	0.000000	0.05858	1.000000	0.80357	0.962000	0.63368	0.495000	0.22483	1.019000	0.39547	0.454000	0.30748	AAG		0.502	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		G	4615663	A	G	4615663	3	3	272	1	0	0	0	0	1	0	0	0	11120	72	3	4	397	4	OR52I1	11	4615663	Missense_Mutation	SNP	A	TCGA-24-2260-01A-01W-0722-08		4615663	130390853	22	15240											
LRRK2	120892	broad.mit.edu	37	12	40716160	40716160	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr12:40716160C>T	ENST00000298910.7	+	37	5415	c.5357C>T	c.(5356-5358)tCt>tTt	p.S1786F		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1786					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.S1749F(1)|p.S1786F(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACATTGATTCTCTCATGGAA	0.398																																																2	Substitution - Missense(2)	ovary(2)	12											247	232	237					12																	40716160		2203	4300	6503	39002427	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5357C>T	12.37:g.40716160C>T	ENSP00000298910:p.Ser1786Phe		39002427	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769158	0.90020	.	.	ENSG00000188906	ENST00000298910	T	0.75050	-0.9	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.965	D	0.83775	0.0222	10	0.56958	D	0.05	.	19.5666	0.95395	0.0:1.0:0.0:0.0	.	1786;1786	Q17RV3;Q5S007	.;LRRK2_HUMAN	F	1786	ENSP00000298910:S1786F	ENSP00000298910:S1786F	S	+	2	0	LRRK2	39002427	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.213000	0.77950	2.602000	0.87976	0.650000	0.86243	TCT		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		T	40716160	C	T	40716160	3	4	272	1	0	0	0	0	1	0	0	0	9033	913	32	2	5503	2	LRRK2	12	40716160	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08		40716160	93135735	23	15241											
RBM19	9904	broad.mit.edu	37	12	114374899	114374899	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr12:114374899C>T	ENST00000545145.2	-	16	2059	c.1981G>A	c.(1981-1983)Gtc>Atc	p.V661I	RBM19_ENST00000392561.3_Missense_Mutation_p.V661I|RBM19_ENST00000261741.5_Missense_Mutation_p.V661I|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	661					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V661I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTGGAGAAGACGCCAACTGGA	0.537																																																1	Substitution - Missense(1)	ovary(1)	12											122	122	122					12																	114374899		2203	4300	6503	112859282	SO:0001583	missense	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1981G>A	12.37:g.114374899C>T	ENSP00000442053:p.Val661Ile		112859282	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537194	0.45176	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05786	3.39;3.39;3.39	4.8	0.89	0.19218	Nucleotide-binding, alpha-beta plait (1);	0.123972	0.53938	D	0.000045	T	0.07279	0.0184	M	0.64404	1.975	0.53688	D	0.999972	B	0.11235	0.004	B	0.14023	0.01	T	0.19910	-1.0291	10	0.27785	T	0.31	-28.0427	9.001	0.36081	0.0:0.6879:0.0:0.3121	.	661	Q9Y4C8	RBM19_HUMAN	I	661	ENSP00000442053:V661I;ENSP00000376344:V661I;ENSP00000261741:V661I	ENSP00000261741:V661I	V	-	1	0	RBM19	112859282	0.870000	0.30015	0.962000	0.40283	0.718000	0.41266	1.624000	0.37018	0.467000	0.27218	0.655000	0.94253	GTC		0.537	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114374899	C	T	114374899	3	4	272	1	0	0	0	0	1	0	0	0	13124	536	19	1	937	1	RBM19	12	114374899	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08	73658739	114374899	19476996	24	15242											
TCTN2	79867	broad.mit.edu	37	12	124179492	124179492	+	Silent	SNP	T	T	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr12:124179492T>A	ENST00000303372.5	+	10	1331	c.1203T>A	c.(1201-1203)atT>atA	p.I401I	TCTN2_ENST00000426174.2_Silent_p.I400I	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	401					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.I401I(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATGTTAAAATTTTTAGGGCAG	0.323																																																1	Substitution - coding silent(1)	ovary(1)	12											42	48	46					12																	124179492		2201	4295	6496	122745445	SO:0001819	synonymous_variant	79867			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1203T>A	12.37:g.124179492T>A			122745445	A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	CCDS9253.1																																																																																				0.323	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		A	124179492	T	A	124179492	2	1	272	1	0	0	0	0	0	0	0	1	15723	1829	64	5		5	TCTN2	12	124179492	Silent	SNP	T	TCGA-24-2260-01A-01W-0722-08	9804593	124179492	9672403	25	15243											
PIBF1	10464	broad.mit.edu	37	13	73428218	73428218	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr13:73428218A>G	ENST00000326291.6	+	10	1585	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S	AL391384.1_ENST00000408054.1_RNA	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	416						centrosome (GO:0005813)		p.N416S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GCAAGGGATAATGCTGTGGCT	0.353																																																1	Substitution - Missense(1)	ovary(1)	13											102	105	104					13																	73428218		2203	4300	6503	72326219	SO:0001583	missense	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1247A>G	13.37:g.73428218A>G	ENSP00000317144:p.Asn416Ser		72326219	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810460	0.50421	.	.	ENSG00000083535	ENST00000326291	T	0.28255	1.62	5.04	5.04	0.67666	.	0.049112	0.85682	D	0.000000	T	0.50051	0.1593	M	0.69823	2.125	0.49582	D	0.9998	D;D	0.67145	0.996;0.996	D;D	0.73380	0.98;0.98	T	0.47749	-0.9093	10	0.12766	T	0.61	-21.169	13.6217	0.62140	1.0:0.0:0.0:0.0	.	416;416	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	S	416	ENSP00000317144:N416S	ENSP00000317144:N416S	N	+	2	0	PIBF1	72326219	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.247000	0.72411	1.902000	0.55061	0.455000	0.32223	AAT		0.353	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		G	73428218	A	G	73428218	3	3	272	1	0	0	0	0	1	0	0	0	11879	101	4	4	1281	4	PIBF1	13	73428218	Missense_Mutation	SNP	A	TCGA-24-2260-01A-01W-0722-08		73428218	41741660	26	15244											
C14orf159	80017	broad.mit.edu	37	14	91691162	91691162	+	Silent	SNP	C	C	T	rs377043453		TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr14:91691162C>T	ENST00000523771.1	+	14	2439	c.1836C>T	c.(1834-1836)acC>acT	p.T612T	C14orf159_ENST00000523576.1_3'UTR|C14orf159_ENST00000522322.1_Silent_p.T612T|C14orf159_ENST00000520328.1_Silent_p.T560T|C14orf159_ENST00000521077.2_Silent_p.T577T|C14orf159_ENST00000428926.2_Silent_p.T612T|C14orf159_ENST00000523816.1_Silent_p.T612T|C14orf159_ENST00000412671.2_Silent_p.T617T|C14orf159_ENST00000518868.1_Silent_p.T617T|C14orf159_ENST00000256324.10_Silent_p.T617T|C14orf159_ENST00000525393.2_Silent_p.T488T			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	612						mitochondrion (GO:0005739)		p.T612T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGACGTCACCACGGCACAGG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	14						C	,,,,	1,4405	2.1+/-5.4	0,1,2202	90	64	73		1836,1836,1851,1680,1836	2.6	0.1	14		73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C14orf159	NM_001102366.1,NM_001102367.1,NM_001102368.1,NM_001102369.1,NM_024952.6	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	612/617,612/617,617/622,560/565,612/617	91691162	1,13005	2203	4300	6503	90760915	SO:0001819	synonymous_variant	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1836C>T	14.37:g.91691162C>T			90760915	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	CCDS32141.1																																																																																				0.612	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		T	91691162	C	T	91691162	2	4	272	1	0	0	0	0	0	0	0	1	1755	581	21	2		2	C14orf159	14	91691162	Silent	SNP	C	TCGA-24-2260-01A-01W-0722-08		91691162	15658378	27	15245											
MTMR10	54893	broad.mit.edu	37	15	31251114	31251114	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr15:31251114C>T	ENST00000435680.1	-	9	984	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	MTMR10_ENST00000563714.1_Missense_Mutation_p.R214Q|RNU6-466P_ENST00000391224.1_RNA|MTMR10_ENST00000314404.8_Missense_Mutation_p.R48Q|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	296	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.R214Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GAGGGCCATTCGCACAAGAGC	0.458																																																1	Substitution - Missense(1)	ovary(1)	15											144	139	140					15																	31251114		2011	4179	6190	29038406	SO:0001583	missense	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.887G>A	15.37:g.31251114C>T	ENSP00000402537:p.Arg296Gln		29038406	Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603951	0.96626	.	.	ENSG00000166912	ENST00000435680;ENST00000314404;ENST00000340566	D;D	0.98135	-4.74;-4.74	5.08	5.08	0.68730	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.517985	0.20617	N	0.088859	D	0.98732	0.9574	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.87578	0.953;0.996;0.994;0.998	D	0.99887	1.1125	10	0.87932	D	0	.	18.8392	0.92176	0.0:1.0:0.0:0.0	.	65;214;214;296	Q0IJ45;Q9NXD2-2;A6NGL9;Q9NXD2	.;.;.;MTMRA_HUMAN	Q	296;48;214	ENSP00000402537:R296Q;ENSP00000313788:R48Q	ENSP00000313788:R48Q	R	-	2	0	MTMR10	29038406	1.000000	0.71417	0.993000	0.49108	0.968000	0.65278	5.212000	0.65225	2.517000	0.84864	0.655000	0.94253	CGA		0.458	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		T	31251114	C	T	31251114	3	4	272	1	0	0	0	0	1	0	0	0	9939	884	31	1	1478	1	MTMR10	15	31251114	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08		31251114	71280278	28	15246											
MAPK6	5597	broad.mit.edu	37	15	52356497	52356497	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr15:52356497A>C	ENST00000261845.5	+	6	2273	c.1466A>C	c.(1465-1467)aAg>aCg	p.K489T	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	489					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.K489T(1)		breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AAATCTGATAAGAAAGGCAAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	15											30	30	30					15																	52356497		2194	4288	6482	50143789	SO:0001583	missense	5597			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1466A>C	15.37:g.52356497A>C	ENSP00000261845:p.Lys489Thr		50143789	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.814224	0.32053	.	.	ENSG00000069956	ENST00000261845	T	0.45276	0.9	5.41	5.41	0.78517	.	0.051782	0.85682	D	0.000000	T	0.35913	0.0948	L	0.40543	1.245	0.53688	D	0.999971	P	0.52316	0.952	B	0.39617	0.305	T	0.35251	-0.9796	10	0.72032	D	0.01	-11.4075	15.584	0.76468	1.0:0.0:0.0:0.0	.	489	Q16659	MK06_HUMAN	T	489	ENSP00000261845:K489T	ENSP00000261845:K489T	K	+	2	0	MAPK6	50143789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.919000	0.70005	2.106000	0.64143	0.519000	0.50382	AAG		0.368	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		C	52356497	A	C	52356497	3	2	272	1	0	0	0	0	1	0	0	0	9281	72	3	5	1484	5	MAPK6	15	52356497	Missense_Mutation	SNP	A	TCGA-24-2260-01A-01W-0722-08	21105383	52356497	50174895	29	15247											
SV2B	9899	broad.mit.edu	37	15	91809887	91809887	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr15:91809887C>T	ENST00000394232.1	+	7	1554	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	SV2B_ENST00000545111.2_Missense_Mutation_p.R211C|SV2B_ENST00000330276.4_Missense_Mutation_p.R362C	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	362					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.R362C(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTGGTACCAGCGCTGGCTGGT	0.418																																																1	Substitution - Missense(1)	ovary(1)	15											69	69	69					15																	91809887		2198	4298	6496	89610891	SO:0001583	missense	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1084C>T	15.37:g.91809887C>T	ENSP00000377779:p.Arg362Cys		89610891	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791225	0.70452	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.59502	0.26;0.26;0.26	5.44	4.51	0.55191	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.71371	-0.4613	10	0.62326	D	0.03	-22.2555	12.8476	0.57839	0.2956:0.7044:0.0:0.0	.	362	Q7L1I2	SV2B_HUMAN	C	211;362;362	ENSP00000443243:R211C;ENSP00000377779:R362C;ENSP00000332818:R362C	ENSP00000332818:R362C	R	+	1	0	SV2B	89610891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.163000	0.31798	1.268000	0.44264	0.655000	0.94253	CGC		0.418	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		T	91809887	C	T	91809887	3	4	272	1	0	0	0	0	1	0	0	0	15418	768	27	1	1106	1	SV2B	15	91809887	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08	39453390	91809887	10721505	30	15248											
DNAH3	55567	broad.mit.edu	37	16	21080897	21080897	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr16:21080897T>A	ENST00000261383.3	-	23	3219	c.3220A>T	c.(3220-3222)Att>Ttt	p.I1074F	DNAH3_ENST00000415178.1_Missense_Mutation_p.I1074F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1074	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.I1074F(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTATGCGAATTAGCTTTTCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	16											166	124	139					16																	21080897		2201	4300	6501	20988398	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3220A>T	16.37:g.21080897T>A	ENSP00000261383:p.Ile1074Phe		20988398	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424258	0.25639	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.60920	0.15;0.15	5.4	0.932	0.19466	Dynein heavy chain, domain-2 (1);	0.587686	0.16463	N	0.213311	T	0.46288	0.1385	M	0.71581	2.175	0.09310	N	1	P	0.39480	0.675	B	0.39152	0.292	T	0.30909	-0.9962	10	0.10111	T	0.7	.	2.9451	0.05843	0.117:0.5068:0.1142:0.262	.	1074	Q8TD57	DYH3_HUMAN	F	1074	ENSP00000261383:I1074F;ENSP00000394245:I1074F	ENSP00000261383:I1074F	I	-	1	0	DNAH3	20988398	0.000000	0.05858	0.298000	0.25002	0.721000	0.41392	-0.121000	0.10643	0.313000	0.23062	-0.177000	0.13119	ATT		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21080897	T	A	21080897	3	1	272	1	0	0	0	0	1	0	0	0	4603	1493	52	5	9289	5	DNAH3	16	21080897	Missense_Mutation	SNP	T	TCGA-24-2260-01A-01W-0722-08		21080897	69273856	31	15249											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	272	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08		7577538	73617672	32	15250											
NACA2	342538	broad.mit.edu	37	17	59668313	59668313	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr17:59668313G>A	ENST00000521764.1	-	1	250	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	77	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R77W(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					ATAGCCTTCCGTGCCCTCTTT	0.463																																																1	Substitution - Missense(1)	ovary(1)	17											247	231	236					17																	59668313		2203	4300	6503	57023095	SO:0001583	missense	342538			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.229C>T	17.37:g.59668313G>A	ENSP00000427802:p.Arg77Trp		57023095	Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482947	0.63962	.	.	ENSG00000253506	ENST00000521764	T	0.64991	-0.13	0.753	0.753	0.18404	Nascent polypeptide-associated complex NAC (2);	0.000000	0.56097	U	0.000023	T	0.81004	0.4733	H	0.97611	4.04	0.52501	D	0.999953	D	0.89917	1.0	D	0.69479	0.964	T	0.78051	-0.2355	9	.	.	.	.	3.8637	0.09007	0.0:1.0E-4:0.5794:0.4205	.	77	Q9H009	NACA2_HUMAN	W	77	ENSP00000427802:R77W	.	R	-	1	2	NACA2	57023095	1.000000	0.71417	0.992000	0.48379	0.830000	0.47004	2.557000	0.45871	0.702000	0.31825	0.411000	0.27672	CGG		0.463	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		A	59668313	G	A	59668313	3	1	272	1	0	0	0	0	1	0	0	0	10134	1144	40	1	422	1	NACA2	17	59668313	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08	52090775	59668313	21526897	33	15251											
SLC25A19	60386	broad.mit.edu	37	17	73279617	73279617	+	Missense_Mutation	SNP	G	G	A	rs368336055		TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr17:73279617G>A	ENST00000402418.3	-	3	1255	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	SLC25A19_ENST00000580994.1_Missense_Mutation_p.R116W|SLC25A19_ENST00000416858.2_Missense_Mutation_p.R116W|SLC25A19_ENST00000375261.4_Intron|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R116W|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R116W			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	116					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)	p.R116W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GAGAATTCCCGGGCGTCATAC	0.552																																																1	Substitution - Missense(1)	ovary(1)	17						G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	55	44	48		346,346,346	2	0	17		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC25A19	NM_021734.4,NM_001126122.1,NM_001126121.1	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	116/321,116/321,116/321	73279617	1,13005	2203	4300	6503	70791212	SO:0001583	missense	60386				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"Solute carriers"	14409	protein-coding gene	gene with protein product		606521	"solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19", "microcephaly, Amish"	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.346C>T	17.37:g.73279617G>A	ENSP00000385312:p.Arg116Trp		70791212	E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490013	0.26686	0.0	1.16E-4	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.2	1.95	0.26073	Mitochondrial carrier domain (2);	0.477259	0.25941	N	0.027316	T	0.56292	0.1975	N	0.12182	0.205	0.22342	N	0.999183	B	0.13594	0.008	B	0.12837	0.008	T	0.47169	-0.9138	10	0.37606	T	0.19	-4.6711	7.4728	0.27359	0.0724:0.1202:0.6839:0.1236	.	116	Q9HC21	TPC_HUMAN	W	116	ENSP00000397818:R116W;ENSP00000402202:R116W;ENSP00000319574:R116W;ENSP00000385312:R116W	ENSP00000319574:R116W	R	-	1	2	SLC25A19	70791212	0.999000	0.42202	0.002000	0.10522	0.001000	0.01503	2.901000	0.48695	1.189000	0.43028	0.549000	0.68633	CGG		0.552	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		A	73279617	G	A	73279617	3	1	272	1	0	0	0	0	1	0	0	0	14484	1115	39	1	632	1	SLC25A19	17	73279617	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08	13611304	73279617	7915593	34	15252											
PQLC1	80148	broad.mit.edu	37	18	77710724	77710724	+	Splice_Site	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr18:77710724C>T	ENST00000397778.2	-	2	385	c.203G>A	c.(202-204)tGg>tAg	p.W68*	PQLC1_ENST00000590381.1_Splice_Site_p.W68*|PQLC1_ENST00000357575.4_Splice_Site_p.W68*|PQLC1_ENST00000409073.1_5'UTR	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	68	PQ-loop 1.					integral component of membrane (GO:0016021)		p.W68*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CCCAACTTACCAGAAGAGTAT	0.607																																																1	Substitution - Nonsense(1)	ovary(1)	18											56	52	54					18																	77710724		2203	4299	6502	75811712	SO:0001630	splice_region_variant	80148			AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.203+1G>A	18.37:g.77710724C>T			75811712	B7Z7D9|G5E989|Q9H6D0	Nonsense_Mutation	SNP	ENST00000397778.2	37	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	C	40	8.010032	0.98607	.	.	ENSG00000122490	ENST00000397778;ENST00000357575;ENST00000351365	.	.	.	5.06	5.06	0.68205	.	0.058319	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.7731	18.4143	0.90563	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	.	W	-	2	0	PQLC1	75811712	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.010000	0.76353	2.327000	0.79052	0.491000	0.48974	TGG		0.607	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078	Nonsense_Mutation	T	77710724	C	T	77710724	5	4	272	1	0	0	0	0	0	0	1	0	12421	608	21	2	632	2	PQLC1	18	77710724	Splice_Site	SNP	C	TCGA-24-2260-01A-01W-0722-08		77710724	366524	35	15253											
SMARCA4	6597	broad.mit.edu	37	19	11118635	11118635	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr19:11118635A>G	ENST00000429416.3	+	15	2340	c.2059A>G	c.(2059-2061)Aag>Gag	p.K687E	SMARCA4_ENST00000358026.2_Missense_Mutation_p.K687E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K687E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K687E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K687E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K687E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K687E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K687E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K687E|CTC-215O4.4_ENST00000587831.1_RNA	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	687					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K687E(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGTGGAGGAGAAGAAGAAGAT	0.587			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	2	Substitution - Missense(1)|Unknown(1)	ovary(1)|lung(1)	19											106	82	90					19																	11118635		2203	4300	6503	10979635	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2059A>G	19.37:g.11118635A>G	ENSP00000395654:p.Lys687Glu		10979635	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	9.223	1.033868	0.19590	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.13;-2.14;-2.14	5.19	5.19	0.71726	.	0.061993	0.64402	D	0.000005	T	0.76579	0.4007	N	0.19112	0.55	0.34576	D	0.71393	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.001	B;B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.0;0.002;0.002;0.002	T	0.73665	-0.3911	10	0.09338	T	0.73	-46.9097	14.1702	0.65506	1.0:0.0:0.0:0.0	.	687;687;687;687;687;687;687	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	E	687;687;751;687;687;687;687;687	ENSP00000395654:K687E;ENSP00000350720:K687E;ENSP00000343896:K687E;ENSP00000445036:K687E;ENSP00000392837:K687E;ENSP00000397783:K687E;ENSP00000414727:K687E	ENSP00000343896:K687E	K	+	1	0	SMARCA4	10979635	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.388000	0.59633	2.187000	0.69744	0.459000	0.35465	AAG		0.587	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		G	11118635	A	G	11118635	3	3	272	1	0	0	0	0	1	0	0	0	14773	247	9	4	2109	4	SMARCA4	19	11118635	Missense_Mutation	SNP	A	TCGA-24-2260-01A-01W-0722-08		11118635	48010348	36	15254											
CRTC1	23373	broad.mit.edu	37	19	18886579	18886579	+	Silent	SNP	G	G	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr19:18886579G>A	ENST00000321949.8	+	13	1667	c.1641G>A	c.(1639-1641)tcG>tcA	p.S547S	CRTC1_ENST00000594658.1_Silent_p.S506S|CRTC1_ENST00000338797.6_Silent_p.S563S|CRTC1_ENST00000601916.1_Silent_p.S305S	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.S547S(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TGCCGGACTCGCAGCAACTGG	0.687																																																1	Substitution - coding silent(1)	ovary(1)	19																																								18747579	SO:0001819	synonymous_variant	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1641G>A	19.37:g.18886579G>A			18747579		Silent	SNP	ENST00000321949.8	37	CCDS32963.1																																																																																				0.687	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		A	18886579	G	A	18886579	2	1	272	1	0	0	0	0	0	0	0	1	3899	1074	38	1		1	CRTC1	19	18886579	Silent	SNP	G	TCGA-24-2260-01A-01W-0722-08	7767944	18886579	40242404	37	15255											
ZNF180	7733	broad.mit.edu	37	19	44980971	44980971	+	Missense_Mutation	SNP	G	G	A	rs567468606		TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr19:44980971G>A	ENST00000221327.4	-	5	2008	c.1727C>T	c.(1726-1728)cCg>cTg	p.P576L	ZNF180_ENST00000592529.1_Missense_Mutation_p.P549L|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.P551L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P576L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ACATTCATACGGTTTTTCCCC	0.408													G|||	1	0.000199681	0	0	5008	,	,		21305	0		0	False		,,,				2504	0.001				Esophageal Squamous(180;1353 2003 32862 46574 49854)											1	Substitution - Missense(1)	ovary(1)	19											104	104	104					19																	44980971		2203	4300	6503	49672811	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1727C>T	19.37:g.44980971G>A	ENSP00000221327:p.Pro576Leu		49672811	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137100	0.77775	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.56444	0.46;0.46	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000812	T	0.70055	0.3180	L	0.56340	1.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71461	-0.4586	10	0.87932	D	0	-14.9646	18.5038	0.90890	0.0:0.0:1.0:0.0	.	551;575;576	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	L	576;551	ENSP00000221327:P576L;ENSP00000375818:P551L	ENSP00000221327:P576L	P	-	2	0	ZNF180	49672811	1.000000	0.71417	0.980000	0.43619	0.876000	0.50452	4.315000	0.59172	2.673000	0.90976	0.591000	0.81541	CCG		0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		A	44980971	G	A	44980971	3	1	272	1	0	0	0	0	1	0	0	0	17748	1116	39	1	355	1	ZNF180	19	44980971	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08	26094392	44980971	14148012	38	15256											
TEAD2	8463	broad.mit.edu	37	19	49862705	49862705	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr19:49862705C>T	ENST00000311227.2	-	3	374	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	TEAD2_ENST00000598810.1_Missense_Mutation_p.R95Q|AC010524.4_ENST00000596488.1_RNA|DKKL1_ENST00000594268.1_5'Flank|TEAD2_ENST00000593945.1_Missense_Mutation_p.R95Q|TEAD2_ENST00000377214.4_Missense_Mutation_p.R95Q|TEAD2_ENST00000601519.1_Missense_Mutation_p.R95Q|TEAD2_ENST00000539846.1_5'UTR|TEAD2_ENST00000598397.1_5'Flank	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	95					gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R95Q(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TTTTCGAGTTCGGGTCTTCCC	0.507																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	19											269	223	239					19																	49862705		2203	4300	6503	54554517	SO:0001583	missense	8463			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.284G>A	19.37:g.49862705C>T	ENSP00000310701:p.Arg95Gln		54554517	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292965	0.95546	.	.	ENSG00000074219	ENST00000311227;ENST00000377214	T;T	0.64803	-0.12;-0.12	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000025	T	0.77611	0.4156	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.988	T	0.79732	-0.1680	10	0.87932	D	0	-11.1825	14.7836	0.69784	0.0:1.0:0.0:0.0	.	95;95	Q15562;Q8NA25	TEAD2_HUMAN;.	Q	95	ENSP00000310701:R95Q;ENSP00000366419:R95Q	ENSP00000310701:R95Q	R	-	2	0	TEAD2	54554517	1.000000	0.71417	0.861000	0.33841	0.994000	0.84299	6.745000	0.74860	2.636000	0.89361	0.655000	0.94253	CGA		0.507	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		T	49862705	C	T	49862705	3	4	272	1	0	0	0	0	1	0	0	0	15739	884	31	1	1099	1	TEAD2	19	49862705	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08	4881734	49862705	9266278	39	15257											
MN1	4330	broad.mit.edu	37	22	28196333	28196333	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chr22:28196333G>A	ENST00000302326.4	-	1	1153	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	67					intramembranous ossification (GO:0001957)			p.P67S(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AAGCCGTAGGGCTCCATGTTC	0.682			T	ETV6	"AML, meningioma"																																		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	1	Substitution - Missense(1)	ovary(1)	22											35	40	39					22																	28196333		1951	4116	6067	26526333	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.199C>T	22.37:g.28196333G>A	ENSP00000304956:p.Pro67Ser		26526333	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912180	0.52439	.	.	ENSG00000169184	ENST00000302326	T	0.61859	0.07	4.87	4.87	0.63330	.	0.149412	0.45867	D	0.000322	T	0.56108	0.1963	N	0.19112	0.55	0.44462	D	0.997396	D	0.55605	0.972	P	0.53912	0.737	T	0.58923	-0.7550	10	0.44086	T	0.13	-9.9082	16.9428	0.86222	0.0:0.0:1.0:0.0	.	67	Q10571	MN1_HUMAN	S	67	ENSP00000304956:P67S	ENSP00000304956:P67S	P	-	1	0	MN1	26526333	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	6.423000	0.73361	2.400000	0.81607	0.561000	0.74099	CCC		0.682	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		A	28196333	G	A	28196333	3	1	272	1	0	0	0	0	1	0	0	0	9673	1203	42	2	3771	2	MN1	22	28196333	Missense_Mutation	SNP	G	TCGA-24-2260-01A-01W-0722-08		28196333	23108233	40	15258											
MAGED2	10916	broad.mit.edu	37	X	54836543	54836543	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chrX:54836543C>T	ENST00000375068.1	+	3	667	c.434C>T	c.(433-435)cCc>cTc	p.P145L	MAGED2_ENST00000375058.1_Missense_Mutation_p.P145L|MAGED2_ENST00000396224.1_Missense_Mutation_p.P145L|MAGED2_ENST00000375060.1_Missense_Mutation_p.P107L|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375062.4_Missense_Mutation_p.P107L|MAGED2_ENST00000347546.4_Missense_Mutation_p.P127L|MAGED2_ENST00000218439.4_Missense_Mutation_p.P145L|MAGED2_ENST00000375053.2_Missense_Mutation_p.P145L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	145						membrane (GO:0016020)		p.P145L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GAGGCTGCACCCTCTCAGGCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	X											16	15	15					X																	54836543		2202	4298	6500	54853268	SO:0001583	missense	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.434C>T	X.37:g.54836543C>T	ENSP00000364209:p.Pro145Leu		54853268	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	C	4.124	0.021241	0.08006	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.71698	1.02;1.02;4.24;-0.59;1.02;1.02;1.02;1.02;1.02	4.36	3.5	0.40072	.	0.440715	0.19425	N	0.114591	T	0.46678	0.1405	N	0.08118	0	0.23889	N	0.996552	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32107	-0.9919	10	0.39692	T	0.17	.	6.9881	0.24739	0.0:0.8759:0.0:0.1241	.	127;107;145	Q9UNF1-2;Q5H907;Q9UNF1	.;.;MAGD2_HUMAN	L	145;145;89;127;107;145;145;107;145	ENSP00000364209:P145L;ENSP00000364193:P145L;ENSP00000336962:P89L;ENSP00000340290:P127L;ENSP00000364202:P107L;ENSP00000218439:P145L;ENSP00000364198:P145L;ENSP00000364200:P107L;ENSP00000379526:P145L	ENSP00000218439:P145L	P	+	2	0	MAGED2	54853268	0.987000	0.35691	0.721000	0.30653	0.082000	0.17680	0.556000	0.23438	1.177000	0.42855	0.600000	0.82982	CCC		0.562	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		T	54836543	C	T	54836543	3	4	272	1	0	0	0	0	1	0	0	0	9184	623	22	2	440	2	MAGED2	23	54836543	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08		54836543	100434017	41	15259											
IRS4	8471	broad.mit.edu	37	X	107977383	107977383	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chrX:107977383C>T	ENST00000372129.2	-	1	2268	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	731	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.R731H(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCGAGAGTGGCGCTTTTTTGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											70	71	71					X																	107977383		2203	4300	6503	107864039	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2192G>A	X.37:g.107977383C>T	ENSP00000361202:p.Arg731His		107864039		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	6.944	0.543989	0.13312	.	.	ENSG00000133124	ENST00000372129	T	0.21031	2.03	5.33	-2.14	0.07123	.	0.420142	0.23596	N	0.046485	T	0.09335	0.0230	L	0.31294	0.92	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.17623	-1.0363	10	0.23302	T	0.38	-0.2394	0.9316	0.01336	0.3551:0.1457:0.1152:0.3841	.	731	O14654	IRS4_HUMAN	H	731	ENSP00000361202:R731H	ENSP00000361202:R731H	R	-	2	0	IRS4	107864039	0.021000	0.18746	0.005000	0.12908	0.969000	0.65631	-0.237000	0.08990	-0.253000	0.09514	0.600000	0.82982	CGC		0.512	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		T	107977383	C	T	107977383	3	4	272	1	0	0	0	0	1	0	0	0	7842	768	27	1	1585	1	IRS4	23	107977383	Missense_Mutation	SNP	C	TCGA-24-2260-01A-01W-0722-08	53140840	107977383	47293177	42	15260											
ARHGAP36	158763	broad.mit.edu	37	X	130215886	130215889	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-24-2260-01A-01W-0722-08	TCGA-24-2260-11A-01W-0722-08	GACA	GACA	-	-	GACA	GACA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	efe741eb-7ce2-4d6c-b852-8598413c649e	fef5b503-2b89-41e6-80b2-cc70c511d762	g.chrX:130215886_130215889delGACA	ENST00000276211.5	+	2	592_595	c.247_250delGACA	c.(247-252)gacagafs	p.DR83fs	ARHGAP36_ENST00000370922.1_Frame_Shift_Del_p.DR71fs|ARHGAP36_ENST00000370921.1_5'Flank	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	83					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D83fs*16(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATTCAAACCTGACAGAGGTAAGCT	0.598																																																1	Deletion - Frameshift(1)	ovary(1)	X																																								130043570	SO:0001589	frameshift_variant	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.247_250delGACA	X.37:g.130215886_130215889delGACA	ENSP00000276211:p.Asp83fs		130043567	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Frame_Shift_Del	DEL	ENST00000276211.5	37	CCDS14628.1																																																																																				0.598	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		-	130215889	GACA	-	130215886	7	5	272	1	0	1	0	1	0	0	0	0	883	1290	45	0	249	0	ARHGAP36	23	130215886	Frame_Shift_Del	DEL	GACA	TCGA-24-2260-01A-01W-0722-08	22238503	130215886	25054674	43	15261											
S1PR1	1901	broad.mit.edu	37	1	101705330	101705330	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr1:101705330G>A	ENST00000305352.6	+	2	1165	c.790G>A	c.(790-792)Gtc>Atc	p.V264I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	264					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.V264I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGTCCTGAGCGTCTTCATCGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											112	112	112					1																	101705330		2203	4300	6503	101477918	SO:0001583	missense	1901			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.790G>A	1.37:g.101705330G>A	ENSP00000305416:p.Val264Ile		101477918	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092581	0.56075	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.75154	-0.91	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.358206	0.32328	N	0.006250	T	0.67230	0.2871	M	0.63843	1.955	0.43708	D	0.996174	P	0.34934	0.476	B	0.36030	0.216	T	0.73375	-0.4002	10	0.62326	D	0.03	.	18.5871	0.91194	0.0:0.0:1.0:0.0	.	264	P21453	S1PR1_HUMAN	I	264	ENSP00000305416:V264I	ENSP00000305416:V264I	V	+	1	0	S1PR1	101477918	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.825000	0.69286	2.378000	0.81104	0.305000	0.20034	GTC		0.587	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		A	101705330	G	A	101705330	3	1	273	1	0	0	0	0	1	0	0	0	13796	1145	40	1	792	1	S1PR1	1	101705330	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08		101705330	147545291	1	15262											
SPRR2A	6700	broad.mit.edu	37	1	153028999	153028999	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr1:153028999G>T	ENST00000392653.2	-	2	298	c.213C>A	c.(211-213)agC>agA	p.S71R		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	71					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.S71R(1)		large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGTTACTTGCTCTTCGGTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											221	205	211					1																	153028999		2203	4300	6503	151295623	SO:0001583	missense	6700			X53064	CCDS1034.1	1q21-q22	2008-02-05			ENSG00000241794	ENSG00000241794			11261	protein-coding gene	gene with protein product		182267				8325635	Standard	NM_005988		Approved		uc001fbd.3	P35326	OTTHUMG00000014395	ENST00000392653.2:c.213C>A	1.37:g.153028999G>T	ENSP00000376423:p.Ser71Arg		151295623	B2R4T3|D3DV35|Q5T529	Missense_Mutation	SNP	ENST00000392653.2	37	CCDS1034.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094774	0.20471	.	.	ENSG00000241794	ENST00000392653	T	0.36520	1.25	2.27	1.32	0.21799	.	0.173232	0.28119	N	0.016537	T	0.15392	0.0371	.	.	.	0.21841	N	0.999519	B	0.31174	0.311	B	0.39617	0.305	T	0.16867	-1.0388	9	0.87932	D	0	.	5.2517	0.15524	0.1735:0.0:0.8265:0.0	.	71	P35326	SPR2A_HUMAN	R	71	ENSP00000376423:S71R	ENSP00000376423:S71R	S	-	3	2	SPRR2A	151295623	1.000000	0.71417	0.960000	0.40013	0.426000	0.31534	2.126000	0.42026	0.484000	0.27630	0.407000	0.27541	AGC		0.507	SPRR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040049.1	NM_005988		T	153028999	G	T	153028999	3	4	273	1	0	0	0	0	1	0	0	0	15099	1310	46	3	9	3	SPRR2A	1	153028999	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08	51323669	153028999	96221622	2	15263											
LGR6	59352	broad.mit.edu	37	1	202275996	202275996	+	Splice_Site	SNP	C	C	T	rs563721511	byFrequency	TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr1:202275996C>T	ENST00000367278.3	+	13	1226	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	LGR6_ENST00000255432.7_Splice_Site_p.I327I|LGR6_ENST00000439764.2_Splice_Site_p.I240I|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	379					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.I379I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTGCCCTAGCGGCCTCCAAC	0.627													C|||	3	0.000599042	0	0	5008	,	,		16774	0		0	False		,,,				2504	0.0031															1	Substitution - coding silent(1)	ovary(1)	1											45	45	45					1																	202275996		2203	4300	6503	200542619	SO:0001630	splice_region_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1137-1C>T	1.37:g.202275996C>T			200542619	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	CCDS30971.1																																																																																				0.627	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	Silent	T	202275996	C	T	202275996	5	4	273	1	0	0	0	0	0	0	1	0	8758	782	27	1	1334	1	LGR6	1	202275996	Splice_Site	SNP	C	TCGA-24-2261-01A-01W-0722-08	49246997	202275996	46974625	3	15264											
SYT2	127833	broad.mit.edu	37	1	202571549	202571549	+	Missense_Mutation	SNP	C	C	T	rs201875273		TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr1:202571549C>T	ENST00000367267.1	-	5	782	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	SYT2_ENST00000367268.4_Missense_Mutation_p.R197Q|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	197	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.R197Q(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CAGTGTCTTCCGATGGACTTT	0.527													C|||	1	0.000199681	0	0.0014	5008	,	,		19530	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											153	145	148					1																	202571549		2203	4300	6503	200838172	SO:0001583	missense	127833			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.590G>A	1.37:g.202571549C>T	ENSP00000356236:p.Arg197Gln		200838172	Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	CCDS1427.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.0	4.356568	0.82243	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.69806	-0.43;-0.43	5.58	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.117127	0.56097	D	0.000031	T	0.75903	0.3913	M	0.61703	1.905	0.46901	D	0.999246	D	0.89917	1.0	D	0.66196	0.942	T	0.77550	-0.2546	10	0.87932	D	0	.	9.3505	0.38136	0.0:0.7941:0.0:0.2059	.	197	Q8N9I0	SYT2_HUMAN	Q	197	ENSP00000356237:R197Q;ENSP00000356236:R197Q	ENSP00000356236:R197Q	R	-	2	0	SYT2	200838172	0.991000	0.36638	0.664000	0.29753	0.984000	0.73092	1.752000	0.38349	1.361000	0.45981	0.655000	0.94253	CGG		0.527	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		T	202571549	C	T	202571549	3	4	273	1	0	0	0	0	1	0	0	0	15474	652	23	1	689	1	SYT2	1	202571549	Missense_Mutation	SNP	C	TCGA-24-2261-01A-01W-0722-08	295553	202571549	46679072	4	15265											
FMN2	56776	broad.mit.edu	37	1	240371922	240371922	+	Silent	SNP	C	C	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr1:240371922C>A	ENST00000319653.9	+	5	4040	c.3810C>A	c.(3808-3810)ggC>ggA	p.G1270G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1270					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1413G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCCAAGTGGCTTGTTTGGAT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	1											57	57	57					1																	240371922		2203	4300	6503	238438545	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3810C>A	1.37:g.240371922C>A			238438545	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.507	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240371922	C	A	240371922	2	1	273	1	0	0	0	0	0	0	0	1	5950	784	28	3		3	FMN2	1	240371922	Silent	SNP	C	TCGA-24-2261-01A-01W-0722-08	37800373	240371922	8878699	5	15266											
COMMD1	150684	broad.mit.edu	37	2	62132989	62132989	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr2:62132989T>A	ENST00000311832.5	+	1	208	c.176T>A	c.(175-177)cTt>cAt	p.L59H	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.L59H	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	59					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.L59H(1)		large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AGGGGGATTCTTAAGGTACTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											49	47	48					2																	62132989		2203	4300	6503	61986493	SO:0001583	missense	150684			BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"copper metabolism gene MURR1"	607238	"chromosome 2 open reading frame 5 (MURR1)"	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.176T>A	2.37:g.62132989T>A	ENSP00000308236:p.Leu59His		61986493	B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306826	0.81247	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.14391	2.51;2.51	5.78	5.78	0.91487	.	0.067802	0.64402	D	0.000009	T	0.34106	0.0886	M	0.63843	1.955	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.04242	-1.0966	10	0.87932	D	0	.	12.5057	0.55979	0.0:0.0:0.0:1.0	.	59	Q8N668	COMD1_HUMAN	H	59	ENSP00000308236:L59H;ENSP00000438961:L59H	ENSP00000308236:L59H	L	+	2	0	COMMD1	61986493	0.998000	0.40836	1.000000	0.80357	0.940000	0.58332	2.784000	0.47774	2.220000	0.72140	0.533000	0.62120	CTT		0.597	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		A	62132989	T	A	62132989	3	1	273	1	0	0	0	0	1	0	0	0	3714	1609	56	5	178	5	COMMD1	2	62132989	Missense_Mutation	SNP	T	TCGA-24-2261-01A-01W-0722-08		62132989	181066384	6	15267											
SAP130	79595	broad.mit.edu	37	2	128712911	128712911	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr2:128712911G>T	ENST00000259235.3	-	15	2173	c.2044C>A	c.(2044-2046)Ccc>Acc	p.P682T	SAP130_ENST00000357702.5_Missense_Mutation_p.P717T|SAP130_ENST00000259234.6_Missense_Mutation_p.P690T	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	682					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.P682T(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCAGACTTGGGTTTGGCACTA	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											66	72	70					2																	128712911		2203	4300	6503	128429381	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2044C>A	2.37:g.128712911G>T	ENSP00000259235:p.Pro682Thr		128429381	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699878	0.68501	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	L	0.32530	0.975	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.971;0.971;0.957;0.801	D;P;P;P;P	0.91635	0.999;0.776;0.701;0.708;0.507	T	0.65166	-0.6234	9	0.34782	T	0.22	-8.4484	19.4001	0.94625	0.0:0.0:1.0:0.0	.	717;690;682;247;319	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	T	717;682;690	.	ENSP00000259234:P690T	P	-	1	0	SAP130	128429381	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.832000	0.69337	2.583000	0.87209	0.632000	0.83419	CCC		0.418	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		T	128712911	G	T	128712911	3	4	273	1	0	0	0	0	1	0	0	0	13834	1261	44	3	1126	3	SAP130	2	128712911	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08	66579922	128712911	114486462	7	15268											
ARHGEF4	50649	broad.mit.edu	37	2	131785558	131785558	+	Silent	SNP	C	C	T	rs141451411	byFrequency	TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr2:131785558C>T	ENST00000326016.5	+	5	987	c.468C>T	c.(466-468)gaC>gaT	p.D156D	ARHGEF4_ENST00000392953.3_Silent_p.D156D|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.D156D|ARHGEF4_ENST00000355771.3_Silent_p.D85D|ARHGEF4_ENST00000409303.1_Silent_p.D156D	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	156					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.D156D(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCTGCGCTGACGAAGTGGGGA	0.627													C|||	2	0.000399361	0.0015	0	5008	,	,		19740	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2						C	,	17,4389	24.3+/-50.5	0,17,2186	49	44	46		468,468	-9.9	0	2	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ARHGEF4	NM_015320.2,NM_032995.1	,	0,18,6485	TT,TC,CC		0.0116,0.3858,0.1384	,	156/691,156/671	131785558	18,12988	2203	4300	6503	131502028	SO:0001819	synonymous_variant	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.468C>T	2.37:g.131785558C>T			131502028	Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	CCDS2165.1																																																																																				0.627	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			T	131785558	C	T	131785558	2	4	273	1	0	0	0	0	0	0	0	1	908	535	19	1		1	ARHGEF4	2	131785558	Silent	SNP	C	TCGA-24-2261-01A-01W-0722-08	3072647	131785558	111413815	8	15269											
DOCK10	55619	broad.mit.edu	37	2	225639745	225639745	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr2:225639745G>A	ENST00000258390.7	-	52	5957	c.5890C>T	c.(5890-5892)Cgg>Tgg	p.R1964W	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1958W	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1964	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R471W(1)|p.R1962W(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTGTCTTCCGGTCTTCGATT	0.512																																																2	Substitution - Missense(2)	ovary(2)	2											88	91	90					2																	225639745		2013	4202	6215	225347989	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5890C>T	2.37:g.225639745G>A	ENSP00000258390:p.Arg1964Trp		225347989	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.40|18.40	3.614736|3.614736	0.66672|0.66672	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000535663|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.25414	.|1.8;1.8	5.48|5.48	3.63|3.63	0.41609|0.41609	.|.	.|0.056199	.|0.64402	.|D	.|0.000001	T|T	0.55986|0.55986	0.1955|0.1955	M|M	0.89287|0.89287	3.02|3.02	0.49687|0.49687	D|D	0.999819|0.999819	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.81914	.|0.967;0.945;0.995	T|T	0.64786|0.64786	-0.6325|-0.6325	5|10	.|0.87932	.|D	.|0	.|.	13.6755|13.6755	0.62451|0.62451	0.0:0.0:0.5937:0.4063|0.0:0.0:0.5937:0.4063	.|.	.|1964;1958;626	.|Q96BY6;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.	L|W	113|1958;1964;471	.|ENSP00000386694:R1958W;ENSP00000258390:R1964W	.|ENSP00000258390:R1964W	P|R	-|-	2|1	0|2	DOCK10|DOCK10	225347989|225347989	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.777000|0.777000	0.43975|0.43975	1.414000|1.414000	0.34736|0.34736	0.750000|0.750000	0.32877|0.32877	0.563000|0.563000	0.77884|0.77884	CCG|CGG		0.512	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			A	225639745	G	A	225639745	3	1	273	1	0	0	0	0	1	0	0	0	4685	1115	39	1	690	1	DOCK10	2	225639745	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08	93854187	225639745	17559628	9	15270											
NGEF	25791	broad.mit.edu	37	2	233752756	233752756	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr2:233752756T>C	ENST00000264051.3	-	9	1612	c.1334A>G	c.(1333-1335)aAg>aGg	p.K445R	NGEF_ENST00000539537.1_Missense_Mutation_p.K168R|NGEF_ENST00000373552.4_Missense_Mutation_p.K353R	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	445	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K445R(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTCCAGCTCCTTGTGAGCATC	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											173	145	154					2																	233752756		2203	4300	6503	233461000	SO:0001583	missense	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1334A>G	2.37:g.233752756T>C	ENSP00000264051:p.Lys445Arg		233461000	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	9.898|9.898	1.206093|1.206093	0.22205|0.22205	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114|ENST00000424488	T;T;T;T|.	0.64991|.	-0.13;-0.13;-0.13;-0.13|.	5.21|5.21	-2.83|-2.83	0.05769|0.05769	Dbl homology (DH) domain (5);|.	0.417418|.	0.27531|.	N|.	0.018945|.	T|T	0.33469|0.33469	0.0864|0.0864	L|L	0.33485|0.33485	1.01|1.01	0.20403|0.20403	N|N	0.999901|0.999901	B;B|.	0.12013|.	0.005;0.002|.	B;B|.	0.15052|.	0.012;0.011|.	T|T	0.37663|0.37663	-0.9696|-0.9696	10|5	0.29301|.	T|.	0.29|.	-17.1457|-17.1457	11.7917|11.7917	0.52073|0.52073	0.0:0.4609:0.0:0.5391|0.0:0.4609:0.0:0.5391	.|.	353;445|.	E9PC42;Q8N5V2|.	.;NGEF_HUMAN|.	R|G	445;353;335;168;168|37	ENSP00000264051:K445R;ENSP00000362653:K353R;ENSP00000439035:K168R;ENSP00000401063:K168R|.	ENSP00000264051:K445R|.	K|R	-|-	2|1	0|2	NGEF|NGEF	233461000|233461000	0.274000|0.274000	0.24191|0.24191	0.229000|0.229000	0.23960|0.23960	0.842000|0.842000	0.47809|0.47809	0.722000|0.722000	0.25925|0.25925	-0.425000|-0.425000	0.07371|0.07371	-0.402000|-0.402000	0.06365|0.06365	AAG|AGG		0.512	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		C	233752756	T	C	233752756	3	2	273	1	0	0	0	0	1	0	0	0	10394	1609	56	4	826	4	NGEF	2	233752756	Missense_Mutation	SNP	T	TCGA-24-2261-01A-01W-0722-08	8113011	233752756	9446617	10	15271											
DOCK3	1795	broad.mit.edu	37	3	51399377	51399377	+	Silent	SNP	G	G	C			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr3:51399377G>C	ENST00000266037.9	+	48	5117	c.5094G>C	c.(5092-5094)ctG>ctC	p.L1698L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1698					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L1698L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGTGATGCTGGGTGACGGCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	3											90	94	92					3																	51399377		2159	4255	6414	51374417	SO:0001819	synonymous_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5094G>C	3.37:g.51399377G>C			51374417	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.572	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		C	51399377	G	C	51399377	2	2	273	1	0	0	0	0	0	0	0	1	4688	1335	47	3		3	DOCK3	3	51399377	Silent	SNP	G	TCGA-24-2261-01A-01W-0722-08		51399377	146623053	11	15272											
MME	4311	broad.mit.edu	37	3	154832894	154832894	+	Missense_Mutation	SNP	G	G	T	rs574482291		TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr3:154832894G>T	ENST00000460393.1	+	4	428	c.308G>T	c.(307-309)cGt>cTt	p.R103L	MME_ENST00000492661.1_Missense_Mutation_p.R103L|MME_ENST00000462745.1_Missense_Mutation_p.R103L|MME_ENST00000493237.1_Missense_Mutation_p.R103L|MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Missense_Mutation_p.R103L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	103					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.R103L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ACCAGCTCCCGTTACGGCAAC	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											124	116	119					3																	154832894		2203	4300	6503	156315588	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.308G>T	3.37:g.154832894G>T	ENSP00000418525:p.Arg103Leu		156315588	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057625	0.55325	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000462837	T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.6	5.6	0.85130	Peptidase M13 (1);	0.276672	0.36778	N	0.002413	T	0.74869	0.3773	M	0.69358	2.11	0.46376	D	0.999015	B	0.31318	0.319	B	0.35770	0.21	T	0.74985	-0.3477	10	0.52906	T	0.07	-14.3204	14.4499	0.67376	0.0:0.0:0.8529:0.1471	.	103	P08473	NEP_HUMAN	L	103	ENSP00000420389:R103L;ENSP00000418525:R103L;ENSP00000420101:R103L;ENSP00000419653:R103L;ENSP00000417079:R103L;ENSP00000353679:R103L;ENSP00000418791:R103L;ENSP00000417595:R103L	ENSP00000353679:R103L	R	+	2	0	MME	156315588	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	4.500000	0.60387	2.648000	0.89879	0.655000	0.94253	CGT		0.413	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		T	154832894	G	T	154832894	3	4	273	1	0	0	0	0	1	0	0	0	9645	1145	40	3	318	3	MME	3	154832894	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08	103433517	154832894	43189536	12	15273											
RAI14	26064	broad.mit.edu	37	5	34824277	34824277	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr5:34824277C>T	ENST00000265109.3	+	15	2617	c.2330C>T	c.(2329-2331)gCt>gTt	p.A777V	RAI14_ENST00000512629.1_Missense_Mutation_p.A748V|RAI14_ENST00000503673.1_Missense_Mutation_p.A777V|RAI14_ENST00000428746.2_Missense_Mutation_p.A777V|RAI14_ENST00000506376.1_Missense_Mutation_p.A769V|RAI14_ENST00000515799.1_Missense_Mutation_p.A780V|RAI14_ENST00000397449.1_Missense_Mutation_p.A770V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	777						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A777V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAGAGAAAGCTGCTATGACT	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											112	111	112					5																	34824277		2203	4300	6503	34860034	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2330C>T	5.37:g.34824277C>T	ENSP00000265109:p.Ala777Val		34860034	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244920	0.39697	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37752	1.22;1.18;1.22;1.22;1.22;1.26;1.25	5.4	5.4	0.78164	.	.	.	.	.	T	0.43523	0.1251	L	0.29908	0.895	0.38964	D	0.95861	D;D;D;D	0.63880	0.986;0.991;0.978;0.993	P;P;P;P	0.58620	0.795;0.793;0.741;0.842	T	0.39663	-0.9603	9	0.51188	T	0.08	-12.7952	14.8562	0.70338	0.1443:0.8557:0.0:0.0	.	769;748;780;777	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	V	777;748;777;777;780;769;770	ENSP00000265109:A777V;ENSP00000422377:A748V;ENSP00000388725:A777V;ENSP00000422942:A777V;ENSP00000427123:A780V;ENSP00000423854:A769V;ENSP00000380591:A770V	ENSP00000265109:A777V	A	+	2	0	RAI14	34860034	0.996000	0.38824	0.950000	0.38849	0.306000	0.27790	3.355000	0.52262	2.533000	0.85409	0.555000	0.69702	GCT		0.408	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		T	34824277	C	T	34824277	3	4	273	1	0	0	0	0	1	0	0	0	13011	797	28	2	2449	2	RAI14	5	34824277	Missense_Mutation	SNP	C	TCGA-24-2261-01A-01W-0722-08		34824277	146090983	13	15274											
HIST1H2BH	8345	broad.mit.edu	37	6	26251883	26251883	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr6:26251883C>T	ENST00000356350.2	+	1	5	c.5C>T	c.(4-6)cCt>cTt	p.P2L	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	2					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.P2L(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GTTGCAATGCCTGATCCAGCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											71	62	65					6																	26251883		2203	4300	6503	26359862	SO:0001583	missense	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.5C>T	6.37:g.26251883C>T	ENSP00000348706:p.Pro2Leu		26359862	B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.924486	0.52653	.	.	ENSG00000197459	ENST00000356350	T	0.19250	2.16	4.74	4.74	0.60224	.	.	.	.	.	T	0.24044	0.0582	M	0.90369	3.11	0.51767	D	0.999935	B	0.25048	0.117	B	0.12837	0.008	T	0.24476	-1.0159	9	0.87932	D	0	.	17.5947	0.88007	0.0:1.0:0.0:0.0	.	2	Q93079	H2B1H_HUMAN	L	2	ENSP00000348706:P2L	ENSP00000348706:P2L	P	+	2	0	HIST1H2BH	26359862	1.000000	0.71417	0.920000	0.36463	0.014000	0.08584	7.481000	0.81124	2.561000	0.86390	0.655000	0.94253	CCT		0.512	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		T	26251883	C	T	26251883	3	4	273	1	0	0	0	0	1	0	0	0	7147	681	24	2	7	2	HIST1H2BH	6	26251883	Missense_Mutation	SNP	C	TCGA-24-2261-01A-01W-0722-08		26251883	144863184	14	15275											
AARS2	57505	broad.mit.edu	37	6	44272925	44272925	+	Missense_Mutation	SNP	C	C	T	rs368303351		TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr6:44272925C>T	ENST00000244571.4	-	11	1447	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCAGCCTGCCGTGCCCGGTG	0.612											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			6											72	60	64					6																	44272925		2203	4300	6503	44380903	SO:0001583	missense	57505			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1445G>A	6.37:g.44272925C>T	ENSP00000244571:p.Arg482Gln	922	44380903		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	0.089	-1.170381	0.01660	.	.	ENSG00000124608	ENST00000244571	T	0.73575	-0.76	5.29	-4.2	0.03823	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	1.003390	0.08022	N	0.992101	T	0.22205	0.0535	N	0.17901	0.54	0.21604	N	0.999624	B	0.09022	0.002	B	0.04013	0.001	T	0.10613	-1.0622	10	0.06236	T	0.91	-4.5185	2.4736	0.04570	0.0956:0.2892:0.1789:0.4363	.	482	Q5JTZ9	SYAM_HUMAN	Q	482	ENSP00000244571:R482Q	ENSP00000244571:R482Q	R	-	2	0	AARS2	44380903	0.025000	0.19082	0.181000	0.23098	0.157000	0.22087	-0.541000	0.06099	-0.592000	0.05851	-0.320000	0.08662	CGG		0.612	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		T	44272925	C	T	44272925	3	4	273	1	0	0	0	0	1	0	0	0	20	652	23	1	1560	1	AARS2	6	44272925	Missense_Mutation	SNP	C	TCGA-24-2261-01A-01W-0722-08	18021042	44272925	126842142	15	15276											
C6orf174	387104	broad.mit.edu	37	6	127797197	127797197	+	Silent	SNP	C	C	G			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr6:127797197C>G	ENST00000525778.1	-	6	2719	c.1974G>C	c.(1972-1974)ctG>ctC	p.L658L	SOGA3_ENST00000556132.1_Silent_p.L658L|SOGA3_ENST00000465909.2_Silent_p.L658L|SOGA3_ENST00000368268.2_Silent_p.L658L|SOGA3_ENST00000481848.2_Silent_p.L658L|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	658					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L658L(1)									TCCTCCGCAGCAGCTCCGTCT	0.642																																																1	Substitution - coding silent(1)	ovary(1)	6											51	57	55					6																	127797197		2187	4288	6475	127838890	SO:0001819	synonymous_variant	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1974G>C	6.37:g.127797197C>G			127838890		Silent	SNP	ENST00000525778.1	37	CCDS43505.1																																																																																				0.642	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		G	127797197	C	G	127797197	2	3	273	1	0	0	0	0	0	0	0	1	2345	697	25	3		3	C6orf174	6	127797197	Silent	SNP	C	TCGA-24-2261-01A-01W-0722-08	83524272	127797197	43317870	16	15277											
SDK1	221935	broad.mit.edu	37	7	4116655	4116655	+	Silent	SNP	C	C	T	rs373825888		TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr7:4116655C>T	ENST00000404826.2	+	21	3175	c.3036C>T	c.(3034-3036)taC>taT	p.Y1012Y	SDK1_ENST00000389531.3_Silent_p.Y1012Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1012	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Y1012Y(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGAAGTGTACGGCAGGAACG	0.552																																																1	Substitution - coding silent(1)	ovary(1)	7						C		0,4406		0,0,2203	140	108	119		3036	-6.2	0.1	7		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1012/2214	4116655	1,13005	2203	4300	6503	4083181	SO:0001819	synonymous_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3036C>T	7.37:g.4116655C>T			4083181	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4116655	C	T	4116655	2	4	273	1	0	0	0	0	0	0	0	1	13971	547	19	1		1	SDK1	7	4116655	Silent	SNP	C	TCGA-24-2261-01A-01W-0722-08		4116655	155022008	17	15278											
AKR1B1	231	broad.mit.edu	37	7	134135551	134135551	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr7:134135551G>A	ENST00000285930.4	-	3	417	c.338C>T	c.(337-339)cCg>cTg	p.P113L	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	113					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.P113L(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	AAAGCCAGTCGGCCAGTGAAT	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											104	75	85					7																	134135551		2203	4300	6503	133786091	SO:0001583	missense	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.338C>T	7.37:g.134135551G>A	ENSP00000285930:p.Pro113Leu		133786091	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306288	0.81247	.	.	ENSG00000085662	ENST00000285930	T	0.14893	2.47	4.79	4.79	0.61399	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	H	0.98786	4.33	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.79448	-0.1799	10	0.87932	D	0	.	17.2042	0.86914	0.0:0.0:1.0:0.0	.	113	P15121	ALDR_HUMAN	L	113	ENSP00000285930:P113L	ENSP00000285930:P113L	P	-	2	0	AKR1B1	133786091	1.000000	0.71417	0.940000	0.37924	0.801000	0.45260	9.869000	0.99810	2.367000	0.80283	0.561000	0.74099	CCG		0.557	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		A	134135551	G	A	134135551	3	1	273	1	0	0	0	0	1	0	0	0	466	1116	39	1	644	1	AKR1B1	7	134135551	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08	130018896	134135551	25003112	18	15279											
MYC	4609	broad.mit.edu	37	8	128751156	128751156	+	Silent	SNP	C	C	T			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr8:128751156C>T	ENST00000259523.6	+	2	1853	c.648C>T	c.(646-648)ttC>ttT	p.F216F	MYC_ENST00000377970.2_Silent_p.F231F|MYC_ENST00000524013.1_Silent_p.F230F			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	216					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F216F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CCAGCGCCTTCTCTCCGTCCT	0.672		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	1	Substitution - coding silent(1)	ovary(1)	8											39	36	37					8																	128751156		2066	4118	6184	128820338	SO:0001819	synonymous_variant	4609				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.648C>T	8.37:g.128751156C>T			128820338	A8WFE7|P01107|Q14026	Silent	SNP	ENST00000259523.6	37																																																																																					0.672	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			T	128751156	C	T	128751156	2	4	273	1	0	0	0	0	0	0	0	1	10016	912	32	2		2	MYC	8	128751156	Silent	SNP	C	TCGA-24-2261-01A-01W-0722-08		128751156	17612866	19	15280											
ZMIZ1	57178	broad.mit.edu	37	10	81052045	81052045	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr10:81052045G>A	ENST00000334512.5	+	11	1461	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	297	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A297T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGCTACAGCCACAGCCAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	10											41	45	44					10																	81052045		2013	3936	5949	80722051	SO:0001583	missense	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.889G>A	10.37:g.81052045G>A	ENSP00000334474:p.Ala297Thr		80722051	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445809	0.63178	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.38077	1.16	5.16	5.16	0.70880	.	0.000000	0.39544	U	0.001329	T	0.59542	0.2201	M	0.67397	2.05	0.80722	D	1	D;D	0.71674	0.998;0.976	D;P	0.81914	0.995;0.858	T	0.57814	-0.7746	10	0.39692	T	0.17	-16.8673	18.6528	0.91437	0.0:0.0:1.0:0.0	.	207;297	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	T	297;227;203	ENSP00000334474:A297T	ENSP00000334474:A297T	A	+	1	0	ZMIZ1	80722051	1.000000	0.71417	0.956000	0.39512	0.637000	0.38172	8.904000	0.92590	2.399000	0.81585	0.563000	0.77884	GCC		0.627	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		A	81052045	G	A	81052045	3	1	273	1	0	0	0	0	1	0	0	0	17696	971	34	2	915	2	ZMIZ1	10	81052045	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08		81052045	54482702	20	15281											
LRIT2	340745	broad.mit.edu	37	10	85981799	85981799	+	Silent	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr10:85981799G>A	ENST00000372113.4	-	3	1535	c.1530C>T	c.(1528-1530)acC>acT	p.T510T	LRIT2_ENST00000538192.1_Silent_p.T520T	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	510			T -> P (in dbSNP:rs6585847).			integral component of membrane (GO:0016021)		p.T510T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGGCTGCAGGGGTGCAGCTGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	10											56	63	61					10																	85981799		2201	4299	6500	85971779	SO:0001819	synonymous_variant	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1530C>T	10.37:g.85981799G>A			85971779	B7ZME6	Silent	SNP	ENST00000372113.4	37	CCDS31234.1																																																																																				0.627	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		A	85981799	G	A	85981799	2	1	273	1	0	0	0	0	0	0	0	1	8948	1219	43	2		2	LRIT2	10	85981799	Silent	SNP	G	TCGA-24-2261-01A-01W-0722-08	4929754	85981799	49552948	21	15282											
SF1	7536	broad.mit.edu	37	11	64537020	64537020	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr11:64537020C>T	ENST00000377390.3	-	6	878	c.541G>A	c.(541-543)Ggg>Agg	p.G181R	SF1_ENST00000377394.3_Missense_Mutation_p.G181R|SF1_ENST00000433274.2_Missense_Mutation_p.G155R|SF1_ENST00000334944.5_Missense_Mutation_p.G181R|SF1_ENST00000422298.2_Missense_Mutation_p.G66R|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.G181R|SF1_ENST00000377387.1_Missense_Mutation_p.G306R	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	181	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G181R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TTCACAGACCCTTTCCCCCGG	0.473																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	11											252	254	254					11																	64537020		2201	4297	6498	64293596	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.541G>A	11.37:g.64537020C>T	ENSP00000366607:p.Gly181Arg		64293596	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466305	0.96257	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	6.04	6.04	0.98038	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.81807	-0.0763	10	0.87932	D	0	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	66;181;181;181;181;306	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	R	306;181;181;181;181;66;155	ENSP00000366604:G306R;ENSP00000366607:G181R;ENSP00000227503:G181R;ENSP00000366611:G181R;ENSP00000334414:G181R;ENSP00000413084:G66R;ENSP00000396793:G155R	ENSP00000227503:G181R	G	-	1	0	SF1	64293596	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.458000	0.80787	2.873000	0.98535	0.563000	0.77884	GGG		0.473	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		T	64537020	C	T	64537020	3	4	273	1	0	0	0	0	1	0	0	0	14148	681	24	2	1548	2	SF1	11	64537020	Missense_Mutation	SNP	C	TCGA-24-2261-01A-01W-0722-08		64537020	70469496	22	15283											
PACS1	55690	broad.mit.edu	37	11	65984242	65984254	+	Splice_Site	DEL	CAAGGGTGAGCCT	CAAGGGTGAGCCT	-	rs139704583|rs374187874	byFrequency	TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	CAAGGGTGAGCCT	CAAGGGTGAGCCT	-	-	CAAGGGTGAGCCT	CAAGGGTGAGCCT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr11:65984242_65984254delCAAGGGTGAGCCT	ENST00000320580.4	+	7	1007_1011	c.974_978delCAAGGGTGAGCCT	c.(973-978)acaagg>a	p.TR325fs		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	325					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.?(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCTGCCATCACAAGGGTGAGCCTCAAAGGTCTG	0.498																																																1	Unknown(1)	ovary(1)	11																																								65740830	SO:0001630	splice_region_variant	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.978+1CAAGGGTGAGCCT>-	11.37:g.65984242_65984254delCAAGGGTGAGCCT			65740818	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Splice_Site	DEL	ENST00000320580.4	37	CCDS8129.1																																																																																				0.498	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	Frame_Shift_Del	-	65984254	CAAGGGTGAGCCT	-	65984242	8	5	273	1	0	1	0	1	0	0	1	0	11372	478	17	0	1000	0	PACS1	11	65984242	Splice_Site	DEL	CAAGGGTGAGCCT	TCGA-24-2261-01A-01W-0722-08	1447222	65984242	69022274	23	15284											
CACNA1C	775	broad.mit.edu	37	12	2716201	2716201	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr12:2716201A>T	ENST00000347598.4	+	27	3321	c.3321A>T	c.(3319-3321)caA>caT	p.Q1107H	CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q1087H|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q1112H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q1087H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q1107H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1107					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Q622H(1)|p.Q1137H(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATCATCCAACCCCGCAGCT	0.547																																																2	Substitution - Missense(2)	ovary(2)	12											63	69	67					12																	2716201		2142	4273	6415	2586462	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3321A>T	12.37:g.2716201A>T	ENSP00000266376:p.Gln1107His		2586462	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.251146	0.59212	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.87	2.96	0.34315	Ion transport (1);	0.184155	0.48767	D	0.000165	D	0.96620	0.8897	N	0.17379	0.485	0.31608	N	0.651836	D;D;B;D;P;D;P;B;B;P;P;B;P;P;P;D;B;P;B;P;P;P;P;P;P	0.58620	0.983;0.963;0.003;0.971;0.936;0.963;0.889;0.001;0.0;0.936;0.904;0.001;0.889;0.921;0.909;0.969;0.001;0.936;0.0;0.904;0.936;0.936;0.923;0.589;0.923	P;P;B;P;P;P;P;B;B;P;P;B;P;P;P;P;B;P;B;P;P;P;P;B;P	0.59761	0.807;0.735;0.004;0.807;0.735;0.735;0.785;0.002;0.005;0.735;0.563;0.007;0.785;0.69;0.863;0.655;0.005;0.735;0.002;0.563;0.735;0.735;0.662;0.247;0.662	D	0.95433	0.8518	10	0.54805	T	0.06	.	10.6436	0.45606	0.2199:0.0:0.7801:0.0	.	1087;1084;1107;1087;1087;1087;1087;1087;1087;1107;1087;1058;1107;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	1112;1087;1087;1087;1087;1087;1087;1087;1087;1087;1107;1107;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087;1087;928	ENSP00000336982:Q1112H;ENSP00000382563:Q1087H;ENSP00000437936:Q1087H;ENSP00000382552:Q1087H;ENSP00000382547:Q1087H;ENSP00000382506:Q1087H;ENSP00000382530:Q1087H;ENSP00000382546:Q1087H;ENSP00000382500:Q1087H;ENSP00000382549:Q1087H;ENSP00000266376:Q1107H;ENSP00000382515:Q1107H;ENSP00000382510:Q1087H;ENSP00000341092:Q1087H;ENSP00000382537:Q1087H;ENSP00000329877:Q1087H;ENSP00000382557:Q1087H;ENSP00000385724:Q1087H;ENSP00000382512:Q1087H;ENSP00000382542:Q1087H;ENSP00000382526:Q1087H;ENSP00000385896:Q1087H;ENSP00000382504:Q1087H	ENSP00000323129:Q928H	Q	+	3	2	CACNA1C	2586462	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.251000	0.43187	0.755000	0.32990	-0.177000	0.13119	CAA		0.547	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2716201	A	T	2716201	3	4	273	1	0	0	0	0	1	0	0	0	2540	40	2	5	3535	5	CACNA1C	12	2716201	Missense_Mutation	SNP	A	TCGA-24-2261-01A-01W-0722-08		2716201	131135694	24	15285											
SPTLC2	9517	broad.mit.edu	37	14	77987880	77987880	+	Silent	SNP	T	T	G			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr14:77987880T>G	ENST00000216484.2	-	10	1541	c.1348A>C	c.(1348-1350)Agg>Cgg	p.R450R		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	450				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). {ECO:0000305}.	ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.R450R(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	AGGCGTCTCCTGAAATACCTG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	14											121	104	110					14																	77987880		2203	4300	6503	77057633	SO:0001819	synonymous_variant	9517			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1348A>C	14.37:g.77987880T>G			77057633	Q16685	Silent	SNP	ENST00000216484.2	37	CCDS9865.1																																																																																				0.408	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		G	77987880	T	G	77987880	2	3	273	1	0	0	0	0	0	0	0	1	15126	1579	55	5		5	SPTLC2	14	77987880	Silent	SNP	T	TCGA-24-2261-01A-01W-0722-08		77987880	29361660	25	15286											
NRXN3	9369	broad.mit.edu	37	14	80130238	80130238	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr14:80130238G>A	ENST00000557594.1	+	3	1500	c.547G>A	c.(547-549)Ggc>Agc	p.G183S	RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.G183S|NRXN3_ENST00000554719.1_Missense_Mutation_p.G815S|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Missense_Mutation_p.G815S|NRXN3_ENST00000281127.7_Missense_Mutation_p.G183S	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	183	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.G815S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAGGAACGGCGGCAACGCCAC	0.488																																																1	Substitution - Missense(1)	ovary(1)	14											125	110	115					14																	80130238		2203	4300	6503	79199991	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.547G>A	14.37:g.80130238G>A	ENSP00000451672:p.Gly183Ser		79199991	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.393262	0.96009	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.77229	-1.08;-1.08;0.92;0.92;0.92	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88775	0.6528	M	0.78637	2.42	0.80722	D	1	D;D;D;P	0.89917	0.987;1.0;1.0;0.889	P;D;D;P	0.91635	0.819;0.999;0.999;0.747	D	0.87815	0.2634	9	.	.	.	.	20.047	0.97613	0.0:0.0:1.0:0.0	.	183;183;183;815	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	S	1188;1177;815;815;183;183;183	ENSP00000451648:G815S;ENSP00000338349:G815S;ENSP00000451672:G183S;ENSP00000281127:G183S;ENSP00000394426:G183S	.	G	+	1	0	NRXN3	79199991	1.000000	0.71417	0.963000	0.40424	0.627000	0.37826	9.792000	0.99085	2.802000	0.96397	0.563000	0.77884	GGC		0.488	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		A	80130238	G	A	80130238	3	1	273	1	0	0	0	0	1	0	0	0	10667	1116	39	1	2740	1	NRXN3	14	80130238	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08	2142358	80130238	27219302	26	15287											
CSPG4	1464	broad.mit.edu	37	15	75979817	75979817	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr15:75979817C>T	ENST00000308508.5	-	3	3681	c.3589G>A	c.(3589-3591)Gtt>Att	p.V1197I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1197	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.V1197I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTATAGAGAACGGCCCCATCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	15											53	55	54					15																	75979817		2197	4292	6489	73766872	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3589G>A	15.37:g.75979817C>T	ENSP00000312506:p.Val1197Ile		73766872	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	3.015	-0.203120	0.06180	.	.	ENSG00000173546	ENST00000308508	T	0.26373	1.74	5.07	-10.1	0.00402	.	0.972784	0.08427	N	0.947545	T	0.08802	0.0218	N	0.04820	-0.15	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.35919	-0.9769	10	0.16896	T	0.51	.	10.2453	0.43336	0.0:0.1438:0.1773:0.6789	.	1197	Q6UVK1	CSPG4_HUMAN	I	1197	ENSP00000312506:V1197I	ENSP00000312506:V1197I	V	-	1	0	CSPG4	73766872	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-0.736000	0.04882	-2.102000	0.00845	-0.263000	0.10527	GTT		0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75979817	C	T	75979817	3	4	273	1	0	0	0	0	1	0	0	0	3960	536	19	1	3411	1	CSPG4	15	75979817	Missense_Mutation	SNP	C	TCGA-24-2261-01A-01W-0722-08		75979817	26551575	27	15288											
ADCY9	115	broad.mit.edu	37	16	4042224	4042224	+	Silent	SNP	C	C	T	rs199753697		TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr16:4042224C>T	ENST00000294016.3	-	5	2668	c.2130G>A	c.(2128-2130)tcG>tcA	p.S710S	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	710					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.S710S(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAAGGAGAGCCGACTGGTCCA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	16											104	91	96					16																	4042224		2197	4300	6497	3982225	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2130G>A	16.37:g.4042224C>T			3982225	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																				0.562	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			T	4042224	C	T	4042224	2	4	273	1	0	0	0	0	0	0	0	1	301	639	23	1		1	ADCY9	16	4042224	Silent	SNP	C	TCGA-24-2261-01A-01W-0722-08		4042224	86312529	28	15289											
GP2	2813	broad.mit.edu	37	16	20335393	20335393	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr16:20335393G>T	ENST00000381362.4	-	3	356	c.280C>A	c.(280-282)Cgc>Agc	p.R94S	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.R94S|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	94					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.R94S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTACAAAGCGGTACCAGCCG	0.577																																																1	Substitution - Missense(1)	ovary(1)	16											78	65	69					16																	20335393		2203	4300	6503	20242894	SO:0001583	missense	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.280C>A	16.37:g.20335393G>T	ENSP00000370767:p.Arg94Ser		20242894	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973435	0.92919	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99637	-6.29;-6.29	5.03	5.03	0.67393	.	.	.	.	.	D	0.99677	0.9879	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97574	1.0106	9	0.87932	D	0	-33.5946	15.9115	0.79477	0.0:0.0:1.0:0.0	.	94;94	P55259-3;P55259	.;GP2_HUMAN	S	94	ENSP00000304044:R94S;ENSP00000370767:R94S	ENSP00000304044:R94S	R	-	1	0	GP2	20242894	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.677000	0.74503	2.596000	0.87737	0.655000	0.94253	CGC		0.577	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		T	20335393	G	T	20335393	3	4	273	1	0	0	0	0	1	0	0	0	6582	1116	39	3	1373	3	GP2	16	20335393	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08	16293169	20335393	70019360	29	15290											
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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"	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM942135	TP53	M	rs148924904						53	54	53					17																	7578442		2203	4300	6503	7519167	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys		7519167	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	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578442	T	C	7578442	3	2	273	1	0	0	0	0	1	0	0	0	16381	1638	57	4	810	4	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-24-2261-01A-01W-0722-08		7578442	73616768	30	15291											
HSF5	124535	broad.mit.edu	37	17	56557477	56557477	+	Silent	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr17:56557477G>A	ENST00000323777.3	-	2	811	c.702C>T	c.(700-702)tcC>tcT	p.S234S		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	234					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S234S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATTCCAAGGGAGTTCTGCC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	17											147	137	140					17																	56557477		2203	4300	6503	53912476	SO:0001819	synonymous_variant	124535			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.702C>T	17.37:g.56557477G>A			53912476	Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	CCDS32690.1																																																																																				0.473	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		A	56557477	G	A	56557477	2	1	273	1	0	0	0	0	0	0	0	1	7399	1219	43	2		2	HSF5	17	56557477	Silent	SNP	G	TCGA-24-2261-01A-01W-0722-08	48979035	56557477	24637733	31	15292											
JMJD6	23210	broad.mit.edu	37	17	74721882	74721882	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr17:74721882C>A	ENST00000397625.4	-	2	299	c.185G>T	c.(184-186)cGg>cTg	p.R62L	METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.R62L|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000588822.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.R62L|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	62					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.R62L(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCTTTCATACCGCTCCACAAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	17											83	79	80					17																	74721882		1864	4105	5969	72233477	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.185G>T	17.37:g.74721882C>A	ENSP00000380750:p.Arg62Leu		72233477	B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134521	0.56828	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.72167	-0.63;-0.63	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.68593	2.085	0.80722	D	1	B;P;P	0.41366	0.057;0.707;0.747	B;B;B	0.30251	0.018;0.029;0.113	T	0.71384	-0.4609	10	0.44086	T	0.13	-22.3201	19.7276	0.96170	0.0:1.0:0.0:0.0	.	62;62;62	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	L	62	ENSP00000394085:R62L;ENSP00000380750:R62L	ENSP00000302916:R62L	R	-	2	0	JMJD6	72233477	1.000000	0.71417	0.915000	0.36163	0.393000	0.30537	4.945000	0.63568	2.649000	0.89929	0.555000	0.69702	CGG		0.443	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		A	74721882	C	A	74721882	3	1	273	1	0	0	0	0	1	0	0	0	7953	652	23	3	1087	3	JMJD6	17	74721882	Missense_Mutation	SNP	C	TCGA-24-2261-01A-01W-0722-08	18164405	74721882	6473328	32	15293											
ASXL3	80816	broad.mit.edu	37	18	31318455	31318455	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr18:31318455G>A	ENST00000269197.5	+	11	1087	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G70S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTACAGGCTGGGCATGTCAAG	0.408																																																1	Substitution - Missense(1)	ovary(1)	18											50	49	50					18																	31318455		1881	4119	6000	29572453	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1087G>A	18.37:g.31318455G>A	ENSP00000269197:p.Gly363Ser		29572453	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072986	0.76415	.	.	ENSG00000141431	ENST00000269197	T	0.19669	2.13	5.01	5.01	0.66863	.	0.956717	0.08648	N	0.914389	T	0.49474	0.1559	M	0.63843	1.955	0.51233	D	0.999917	D	0.89917	1.0	D	0.97110	1.0	T	0.29397	-1.0013	10	0.52906	T	0.07	.	18.6879	0.91571	0.0:0.0:1.0:0.0	.	363	Q9C0F0	ASXL3_HUMAN	S	363	ENSP00000269197:G363S	ENSP00000269197:G363S	G	+	1	0	ASXL3	29572453	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.132000	0.89603	2.490000	0.84030	0.591000	0.81541	GGC		0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31318455	G	A	31318455	3	1	273	1	0	0	0	0	1	0	0	0	1068	1232	43	2	1129	2	ASXL3	18	31318455	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08		31318455	46758793	33	15294											
RAVER1	125950	broad.mit.edu	37	19	10434238	10434238	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr19:10434238G>A	ENST00000293677.6	-	4	893	c.812C>T	c.(811-813)gCg>gTg	p.A271V	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	254	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A254V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CTGGCCGCACGCCAGCTGCCG	0.647																																																1	Substitution - Missense(1)	ovary(1)	19											23	26	25					19																	10434238		2186	4272	6458	10295238	SO:0001583	missense	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.812C>T	19.37:g.10434238G>A	ENSP00000293677:p.Ala271Val		10295238	A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150476	0.78001	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.06528	3.29	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.09291	0.0229	L	0.57536	1.79	0.58432	D	0.99999	P	0.50528	0.936	B	0.41036	0.346	T	0.19063	-1.0317	10	0.35671	T	0.21	-15.496	15.2162	0.73267	0.0:0.0:1.0:0.0	.	271	E9PAU2	.	V	271;254	ENSP00000293677:A271V	ENSP00000293677:A271V	A	-	2	0	RAVER1	10295238	1.000000	0.71417	0.970000	0.41538	0.523000	0.34469	9.236000	0.95360	2.199000	0.70637	0.511000	0.50034	GCG		0.647	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		A	10434238	G	A	10434238	3	1	273	1	0	0	0	0	1	0	0	0	13097	1087	38	1	1498	1	RAVER1	19	10434238	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08		10434238	48694745	34	15295											
PTPRH	5794	broad.mit.edu	37	19	55710054	55710054	+	Silent	SNP	C	C	T	rs574069561		TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chr19:55710054C>T	ENST00000376350.3	-	8	1669	c.1647G>A	c.(1645-1647)agG>agA	p.R549R	PTPRH_ENST00000263434.5_Silent_p.R371R|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	549	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R549R(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGACCTCATTCCTCTCGGCCC	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		20464	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19											148	122	131					19																	55710054		2203	4300	6503	60401866	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1647G>A	19.37:g.55710054C>T			60401866	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	CCDS33110.1																																																																																				0.557	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			T	55710054	C	T	55710054	2	4	273	1	0	0	0	0	0	0	0	1	12806	854	30	2		2	PTPRH	19	55710054	Silent	SNP	C	TCGA-24-2261-01A-01W-0722-08	45275816	55710054	3418929	35	15296											
DGKK	139189	broad.mit.edu	37	X	50122709	50122709	+	RNA	SNP	C	C	G			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chrX:50122709C>G	ENST00000376025.2	-	0	2837							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.L722F(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCAGGTTTGGCAAGGAGATGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											148	124	132					X																	50122709		1918	4129	6047	50139449			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50122709C>G			50139449	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.443	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		G	50122709	C	G	50122709	1	3	273	0	1	0	0	0	0	0	0	0	4472	709	25	3		3	DGKK	23	50122709	RNA	SNP	C	TCGA-24-2261-01A-01W-0722-08		50122709	105147851	36	15297											
MAGED1	9500	broad.mit.edu	37	X	51639636	51639636	+	Silent	SNP	C	C	G			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chrX:51639636C>G	ENST00000375722.1	+	4	1137	c.885C>G	c.(883-885)ctC>ctG	p.L295L	MAGED1_ENST00000375695.2_Silent_p.L351L|MAGED1_ENST00000326587.7_Silent_p.L295L|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Silent_p.L295L			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	295	Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.L351L(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCAATGTGCTCTGGCAGACGC	0.652										Multiple Myeloma(10;0.10)																																						1	Substitution - coding silent(1)	ovary(1)	X											39	36	37					X																	51639636		2203	4300	6503	51656376	SO:0001819	synonymous_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.885C>G	X.37:g.51639636C>G			51656376	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1																																																																																				0.652	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		G	51639636	C	G	51639636	2	3	273	1	0	0	0	0	0	0	0	1	9183	900	32	3		3	MAGED1	23	51639636	Silent	SNP	C	TCGA-24-2261-01A-01W-0722-08	1516927	51639636	103630924	37	15298											
ZDHHC15	158866	broad.mit.edu	37	X	74649787	74649787	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2261-01A-01W-0722-08	TCGA-24-2261-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a12a4f84-b379-424c-8bfd-476da2e7c75e	528120be-ddac-4573-bb65-494eb48f9034	g.chrX:74649787G>A	ENST00000373367.3	-	6	708	c.478C>T	c.(478-480)Cct>Tct	p.P160S	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.P151S|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.P160S	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	160					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P160S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						ACATACCAAGGGCAGTGATGA	0.388																																																1	Substitution - Missense(1)	ovary(1)	X											159	119	133					X																	74649787		2203	4300	6503	74566512	SO:0001583	missense	158866			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.478C>T	X.37:g.74649787G>A	ENSP00000362465:p.Pro160Ser		74566512	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545275	0.86022	.	.	ENSG00000102383	ENST00000373367;ENST00000541184;ENST00000373361	T;T;T	0.27104	1.69;1.69;1.69	5.52	5.52	0.82312	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	H	0.95004	3.61	0.80722	D	1	D;D	0.61080	0.989;0.988	D;P	0.66602	0.945;0.893	T	0.74876	-0.3515	10	0.87932	D	0	.	17.2818	0.87130	0.0:0.0:1.0:0.0	.	151;160	B3KVG7;Q96MV8	.;ZDH15_HUMAN	S	160;151;160	ENSP00000362465:P160S;ENSP00000445420:P151S;ENSP00000362459:P160S	ENSP00000362459:P160S	P	-	1	0	ZDHHC15	74566512	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.257000	0.95545	2.293000	0.77203	0.600000	0.82982	CCT		0.388	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		A	74649787	G	A	74649787	3	1	273	1	0	0	0	0	1	0	0	0	17605	1232	43	2	559	2	ZDHHC15	23	74649787	Missense_Mutation	SNP	G	TCGA-24-2261-01A-01W-0722-08	23010151	74649787	80620773	38	15299											
CCNL2	81669	broad.mit.edu	37	1	1334552	1334552	+	Silent	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr1:1334552C>T	ENST00000400809.3	-	1	140	c.135G>A	c.(133-135)gtG>gtA	p.V45V	RP4-758J18.2_ENST00000444362.1_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408918.4_Silent_p.V45V|MRPL20_ENST00000493287.1_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	45					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V45V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGGTGATGAGCACCCCGGAGT	0.701																																																1	Substitution - coding silent(1)	ovary(1)	1											81	65	70					1																	1334552		2202	4300	6502	1324415	SO:0001819	synonymous_variant	81669			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.135G>A	1.37:g.1334552C>T			1324415	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	CCDS30557.1																																																																																				0.701	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		T	1334552	C	T	1334552	2	4	274	1	0	0	0	0	0	0	0	1	2932	697	25	2		2	CCNL2	1	1334552	Silent	SNP	C	TCGA-24-2262-01A-01W-0799-08		1334552	247916069	1	15300											
RWDD3	25950	broad.mit.edu	37	1	95709781	95709781	+	Missense_Mutation	SNP	G	G	C	rs369999943		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr1:95709781G>C	ENST00000370202.4	+	2	176	c.100G>C	c.(100-102)Gtg>Ctg	p.V34L	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000429514.2_Missense_Mutation_p.V19L|RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000263893.6_Missense_Mutation_p.V34L|RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.R194P	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	34	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V34L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGATGGGACCGTGTTCAGAAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	1											126	117	120					1																	95709781		1872	4104	5976	95482369	SO:0001583	missense	25950			BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.100G>C	1.37:g.95709781G>C	ENSP00000359221:p.Val34Leu		95482369	A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	37	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757796	0.31137	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	T;T;T	0.28895	1.95;1.59;1.95	5.27	1.12	0.20585	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.395711	0.26665	N	0.023139	T	0.05868	0.0153	.	.	.	0.09310	N	1	B;B;B;B;B	0.32382	0.18;0.061;0.001;0.368;0.002	B;B;B;B;B	0.31495	0.088;0.066;0.009;0.131;0.005	T	0.25117	-1.0141	9	0.27785	T	0.31	-14.4099	3.738	0.08518	0.4068:0.0:0.3254:0.2678	.	19;34;34;19;34	E7ES73;Q9Y3V2;D3DT49;Q9Y3V2-3;Q9Y3V2-2	.;RWDD3_HUMAN;.;.;.	L	34;19;34	ENSP00000359221:V34L;ENSP00000397398:V19L;ENSP00000263893:V34L	ENSP00000263893:V34L	V	+	1	0	RWDD3	95482369	0.173000	0.23056	0.950000	0.38849	0.993000	0.82548	0.397000	0.20883	0.723000	0.32274	-0.143000	0.13931	GTG		0.388	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485		C	95709781	G	C	95709781	3	2	274	1	0	0	0	0	1	0	0	0	13760	1145	40	3	106	3	RWDD3	1	95709781	Missense_Mutation	SNP	G	TCGA-24-2262-01A-01W-0799-08	94375229	95709781	153540840	2	15301											
GJA8	2703	broad.mit.edu	37	1	147380369	147380369	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr1:147380369C>T	ENST00000369235.1	+	1	287	c.287C>T	c.(286-288)gCg>gTg	p.A96V	GJA8_ENST00000240986.4_Missense_Mutation_p.A96V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	96					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.A96V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GTGGGGCACGCGGTGCACTAC	0.657																																					Melanoma(76;1255 1795 8195 52096)											1	Substitution - Missense(1)	ovary(1)	1											103	84	91					1																	147380369		2203	4300	6503	145846993	SO:0001583	missense	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.287C>T	1.37:g.147380369C>T	ENSP00000358238:p.Ala96Val		145846993	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	9.186	1.024704	0.19433	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.98958	-5.27;-5.27	5.2	5.2	0.72013	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96040	0.8710	N	0.10645	0.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.66602	0.945	D	0.94268	0.7508	10	0.06236	T	0.91	.	18.721	0.91692	0.0:1.0:0.0:0.0	.	96	P48165	CXA8_HUMAN	V	96	ENSP00000240986:A96V;ENSP00000358238:A96V	ENSP00000240986:A96V	A	+	2	0	GJA8	145846993	1.000000	0.71417	0.666000	0.29783	0.648000	0.38561	6.020000	0.70826	2.409000	0.81822	0.491000	0.48974	GCG		0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		T	147380369	C	T	147380369	3	4	274	1	0	0	0	0	1	0	0	0	6405	768	27	1	289	1	GJA8	1	147380369	Missense_Mutation	SNP	C	TCGA-24-2262-01A-01W-0799-08	51670588	147380369	101870252	3	15302											
CYB5R1	51706	broad.mit.edu	37	1	202932829	202932829	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr1:202932829G>A	ENST00000367249.4	-	7	660	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	196					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.R196W(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGGATGGCCCGGATCAGCTGT	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											127	106	113					1																	202932829		2203	4300	6503	201199452	SO:0001583	missense	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.586C>T	1.37:g.202932829G>A	ENSP00000356218:p.Arg196Trp		201199452	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284167	0.80803	.	.	ENSG00000159348	ENST00000367249	D	0.87571	-2.27	5.93	5.01	0.66863	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.351913	0.26026	N	0.026782	D	0.94450	0.8214	H	0.94698	3.57	0.50632	D	0.999884	D	0.76494	0.999	D	0.62955	0.909	D	0.95382	0.8474	10	0.87932	D	0	-5.8142	12.6473	0.56742	0.0795:0.0:0.9205:0.0	.	196	Q9UHQ9	NB5R1_HUMAN	W	196	ENSP00000356218:R196W	ENSP00000356218:R196W	R	-	1	2	CYB5R1	201199452	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.838000	0.69388	1.503000	0.48686	0.655000	0.94253	CGG		0.517	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		A	202932829	G	A	202932829	3	1	274	1	0	0	0	0	1	0	0	0	4126	1115	39	1	343	1	CYB5R1	1	202932829	Missense_Mutation	SNP	G	TCGA-24-2262-01A-01W-0799-08	55552460	202932829	46317792	4	15303											
LRPPRC	10128	broad.mit.edu	37	2	44171017	44171017	+	Silent	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr2:44171017C>T	ENST00000260665.7	-	23	2370	c.2313G>A	c.(2311-2313)ctG>ctA	p.L771L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	771					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L771L(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATCTCCTTCAGAATGTTAA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	2											82	83	83					2																	44171017		2202	4300	6502	44024521	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2313G>A	2.37:g.44171017C>T			44024521	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	CCDS33189.1																																																																																				0.373	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		T	44171017	C	T	44171017	2	4	274	1	0	0	0	0	0	0	0	1	8965	813	29	2		2	LRPPRC	2	44171017	Silent	SNP	C	TCGA-24-2262-01A-01W-0799-08		44171017	199028356	5	15304											
RPS27A	6233	broad.mit.edu	37	2	55462090	55462090	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr2:55462090T>C	ENST00000272317.6	+	5	637	c.313T>C	c.(313-315)Tat>Cat	p.Y105H	RPS27A_ENST00000404735.1_Missense_Mutation_p.Y105H|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000494539.1_5'Flank|RPS27A_ENST00000402285.3_Missense_Mutation_p.Y105H|CLHC1_ENST00000407122.1_5'Flank|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	105					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Y105H(1)		cervix(1)|ovary(1)|urinary_tract(1)	3						TGTCCTGAAATATTATAAGGT	0.383																																																1	Substitution - Missense(1)	ovary(1)	2											45	43	44					2																	55462090		2203	4300	6503	55315594	SO:0001583	missense	6233			AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"S ribosomal proteins"	10417	protein-coding gene	gene with protein product	"ubiquitin carboxyl extension protein 80"	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.313T>C	2.37:g.55462090T>C	ENSP00000272317:p.Tyr105His		55315594	P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.217190	0.58560	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.78246	-1.11;-1.11;-1.16;-1.11	5.01	5.01	0.66863	Ribosomal protein S27a (1);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.64630	1.985	0.80722	D	1	B	0.13145	0.007	B	0.20767	0.031	T	0.74469	-0.3655	10	0.59425	D	0.04	.	14.7212	0.69308	0.0:0.0:0.0:1.0	.	105	P62979	RS27A_HUMAN	H	105	ENSP00000383981:Y105H;ENSP00000272317:Y105H;ENSP00000408482:Y105H;ENSP00000385659:Y105H	ENSP00000272317:Y105H	Y	+	1	0	RPS27A	55315594	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	7.727000	0.84838	1.882000	0.54519	0.477000	0.44152	TAT		0.383	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			C	55462090	T	C	55462090	3	2	274	1	0	0	0	0	1	0	0	0	13642	1406	49	4	327	4	RPS27A	2	55462090	Missense_Mutation	SNP	T	TCGA-24-2262-01A-01W-0799-08	11291073	55462090	187737283	6	15305											
ATP2B2	491	broad.mit.edu	37	3	10491191	10491191	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr3:10491191T>C	ENST00000352432.4	-	1	106	c.37A>G	c.(37-39)Aac>Gac	p.N13D	ATP2B2_ENST00000343816.4_Missense_Mutation_p.N13D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.N13D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.N13D|ATP2B2_ENST00000397077.1_Missense_Mutation_p.N13D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	13					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.N13D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTTCTTTGGTTTTTGGAGTAA	0.597																																					Ovarian(125;1619 1709 15675 19819 38835)											1	Substitution - Missense(1)	ovary(1)	3											135	120	125					3																	10491191		2203	4300	6503	10466191	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.37A>G	3.37:g.10491191T>C	ENSP00000324172:p.Asn13Asp		10466191	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956816	0.73902	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000342354	D;D;D;D;D	0.92048	-2.94;-2.96;-2.96;-2.94;-2.95	4.45	4.45	0.53987	.	0.531524	0.18420	N	0.141791	D	0.94341	0.8181	L	0.60455	1.87	0.43830	D	0.996405	D;B;B	0.61697	0.99;0.02;0.224	D;B;B	0.72982	0.979;0.028;0.071	D	0.93529	0.6868	10	0.46703	T	0.11	-41.0036	11.9674	0.53044	0.0:0.0:0.0:1.0	.	13;25;13	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	D	13	ENSP00000324172:N13D;ENSP00000373311:N13D;ENSP00000380267:N13D;ENSP00000353414:N13D;ENSP00000344677:N13D	ENSP00000342954:N13D	N	-	1	0	ATP2B2	10466191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.843000	0.86859	1.780000	0.52325	0.379000	0.24179	AAC		0.597	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		C	10491191	T	C	10491191	3	2	274	1	0	0	0	0	1	0	0	0	1140	1841	64	4	3782	4	ATP2B2	3	10491191	Missense_Mutation	SNP	T	TCGA-24-2262-01A-01W-0799-08		10491191	187531239	7	15306											
SKIL	6498	broad.mit.edu	37	3	170110051	170110051	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr3:170110051C>T	ENST00000458537.3	+	6	2610	c.1901C>T	c.(1900-1902)gCa>gTa	p.A634V	SKIL_ENST00000426052.2_Missense_Mutation_p.A614V|SKIL_ENST00000259119.4_Missense_Mutation_p.A634V|SKIL_ENST00000413427.2_Missense_Mutation_p.A588V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	634					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.A634V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ACATAGTTGGCAGAACTGAGG	0.368																																																1	Substitution - Missense(1)	ovary(1)	3											83	87	86					3																	170110051		2203	4300	6503	171592745	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1901C>T	3.37:g.170110051C>T	ENSP00000415243:p.Ala634Val		171592745	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767602	0.49574	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.91521	-2.84;-2.84;-2.86;-2.84	5.89	5.01	0.66863	.	0.240378	0.43260	D	0.000586	D	0.87394	0.6166	L	0.44542	1.39	0.36181	D	0.84944	B;B	0.27971	0.196;0.148	B;B	0.29077	0.098;0.046	D	0.87821	0.2638	10	0.46703	T	0.11	-13.1473	15.4548	0.75305	0.0:0.9326:0.0:0.0674	.	588;634	P12757-3;P12757	.;SKIL_HUMAN	V	634;614;588;634	ENSP00000259119:A634V;ENSP00000406520:A614V;ENSP00000400193:A588V;ENSP00000415243:A634V	ENSP00000259119:A634V	A	+	2	0	SKIL	171592745	1.000000	0.71417	0.996000	0.52242	0.763000	0.43281	4.073000	0.57570	2.793000	0.96121	0.655000	0.94253	GCA		0.368	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		T	170110051	C	T	170110051	3	4	274	1	0	0	0	0	1	0	0	0	14361	710	25	2	1923	2	SKIL	3	170110051	Missense_Mutation	SNP	C	TCGA-24-2262-01A-01W-0799-08	159618860	170110051	27912379	8	15307											
CEP135	9662	broad.mit.edu	37	4	56865776	56865776	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr4:56865776A>G	ENST00000257287.4	+	17	2369	c.2245A>G	c.(2245-2247)Aag>Gag	p.K749E		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	749					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.K749E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAAGACAGAAAAGATTGCAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	4											70	78	75					4																	56865776		2203	4300	6503	56560533	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2245A>G	4.37:g.56865776A>G	ENSP00000257287:p.Lys749Glu		56560533	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400709	0.42613	.	.	ENSG00000174799	ENST00000257287	T	0.60672	0.17	5.18	2.69	0.31865	.	0.248856	0.47093	D	0.000257	T	0.47820	0.1466	M	0.61703	1.905	0.31832	N	0.624658	B	0.31837	0.342	B	0.36092	0.217	T	0.49652	-0.8917	10	0.05620	T	0.96	.	7.4383	0.27169	0.7817:0.1432:0.0751:0.0	.	749	Q66GS9	CP135_HUMAN	E	749	ENSP00000257287:K749E	ENSP00000257287:K749E	K	+	1	0	CEP135	56560533	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.637000	0.46553	0.287000	0.22375	-0.288000	0.09946	AAG		0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		G	56865776	A	G	56865776	3	3	274	1	0	0	0	0	1	0	0	0	3247	15	1	4	2307	4	CEP135	4	56865776	Missense_Mutation	SNP	A	TCGA-24-2262-01A-01W-0799-08		56865776	134288500	9	15308											
SDAD1	55153	broad.mit.edu	37	4	76892517	76892517	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr4:76892517A>G	ENST00000356260.5	-	9	924	c.806T>C	c.(805-807)gTg>gCg	p.V269A	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.V232A	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	269					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)		p.V269A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CACCTTGAGCACTTTCATTGC	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											218	194	202					4																	76892517		2203	4300	6503	77111541	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.806T>C	4.37:g.76892517A>G	ENSP00000348596:p.Val269Ala		77111541	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869720	0.33069	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.73469	2.87;-0.75	5.26	5.26	0.73747	Armadillo-type fold (1);	0.182670	0.47852	D	0.000220	T	0.57125	0.2032	N	0.17723	0.515	0.58432	D	0.999998	B;B	0.15141	0.005;0.012	B;B	0.12837	0.008;0.008	T	0.53099	-0.8486	10	0.08381	T	0.77	-11.9602	13.1213	0.59327	1.0:0.0:0.0:0.0	.	232;269	E7EW05;Q9NVU7	.;SDA1_HUMAN	A	269;232	ENSP00000348596:V269A;ENSP00000379061:V232A	ENSP00000348596:V269A	V	-	2	0	SDAD1	77111541	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.312000	0.89976	1.984000	0.57885	0.455000	0.32223	GTG		0.378	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		G	76892517	A	G	76892517	3	3	274	1	0	0	0	0	1	0	0	0	13953	159	6	4	1313	4	SDAD1	4	76892517	Missense_Mutation	SNP	A	TCGA-24-2262-01A-01W-0799-08	20026741	76892517	114261759	10	15309											
HIVEP1	3096	broad.mit.edu	37	6	12124959	12124959	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr6:12124959T>A	ENST00000379388.2	+	4	5263	c.4931T>A	c.(4930-4932)gTt>gAt	p.V1644D	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1644					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1644D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGAGTAGTGTTCCTGCTTAC	0.498																																																1	Substitution - Missense(1)	ovary(1)	6											140	137	138					6																	12124959		2084	4224	6308	12232945	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4931T>A	6.37:g.12124959T>A	ENSP00000368698:p.Val1644Asp		12232945	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298134	0.60086	.	.	ENSG00000095951	ENST00000379388	T	0.11821	2.74	5.54	4.37	0.52481	.	0.000000	0.30347	N	0.009840	T	0.10423	0.0255	M	0.78637	2.42	0.37890	D	0.930686	P	0.51351	0.944	B	0.41036	0.346	T	0.04607	-1.0939	9	.	.	.	-12.574	11.5936	0.50959	0.0:0.0711:0.0:0.9289	.	1644	P15822	ZEP1_HUMAN	D	1644	ENSP00000368698:V1644D	.	V	+	2	0	HIVEP1	12232945	0.143000	0.22626	0.004000	0.12327	0.022000	0.10575	2.293000	0.43558	2.097000	0.63578	0.459000	0.35465	GTT		0.498	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12124959	T	A	12124959	3	1	274	1	0	0	0	0	1	0	0	0	7186	1725	60	5	4941	5	HIVEP1	6	12124959	Missense_Mutation	SNP	T	TCGA-24-2262-01A-01W-0799-08		12124959	158990108	11	15310											
DCDC2	51473	broad.mit.edu	37	6	24357707	24357707	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr6:24357707T>C	ENST00000378454.3	-	1	573	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	91	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.Q91R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GAAGGCTTCCTGGCCTCCAGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											48	45	46					6																	24357707		2203	4300	6503	24465686	SO:0001583	missense	51473			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.272A>G	6.37:g.24357707T>C	ENSP00000367715:p.Gln91Arg		24465686	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	CCDS4550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.19|10.19	1.282258|1.282258	0.23392|0.23392	.|.	.|.	ENSG00000146038|ENSG00000146038	ENST00000378454;ENST00000451359|ENST00000436313	D|.	0.91237|.	-2.81|.	5.67|5.67	-1.93|-1.93	0.07594|0.07594	Doublecortin domain (5);|.	0.800688|.	0.11330|.	N|.	0.575147|.	T|T	0.02304|0.02304	0.0071|0.0071	N|N	0.00459|0.00459	-1.475|-1.475	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.12156|.	0.007|.	T|T	0.39014|0.39014	-0.9634|-0.9634	10|5	0.13470|.	T|.	0.59|.	-11.9043|-11.9043	0.4813|0.4813	0.00548|0.00548	0.3446:0.143:0.2987:0.2137|0.3446:0.143:0.2987:0.2137	.|.	91|.	Q9UHG0|.	DCDC2_HUMAN|.	R|G	91|59	ENSP00000367715:Q91R|.	ENSP00000367715:Q91R|.	Q|R	-|-	2|1	0|2	DCDC2|DCDC2	24465686|24465686	0.980000|0.980000	0.34600|0.34600	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	0.226000|0.226000	0.17776|0.17776	0.055000|0.055000	0.16094|0.16094	0.533000|0.533000	0.62120|0.62120	CAG|AGG		0.577	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		C	24357707	T	C	24357707	3	2	274	1	0	0	0	0	1	0	0	0	4285	1580	55	4	1198	4	DCDC2	6	24357707	Missense_Mutation	SNP	T	TCGA-24-2262-01A-01W-0799-08	12232748	24357707	146757360	12	15311											
OR5V1	81696	broad.mit.edu	37	6	29323086	29323086	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr6:29323086T>C	ENST00000377154.1	-	4	1186	c.887A>G	c.(886-888)gAc>gGc	p.D296G	OR5V1_ENST00000543825.1_Missense_Mutation_p.D296G			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D296G(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTTGATGTCCTTATTCCT	0.378																																					Ovarian(32;43 883 21137 32120 42650)											1	Substitution - Missense(1)	ovary(1)	6											113	110	111					6																	29323086		2203	4300	6503	29431065	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.887A>G	6.37:g.29323086T>C	ENSP00000366359:p.Asp296Gly		29431065	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.714295	0.68730	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.39592	1.07;1.07	4.53	4.53	0.55603	.	0.000000	0.34580	N	0.003844	T	0.46425	0.1392	L	0.49126	1.545	0.46458	D	0.999056	D	0.69078	0.997	P	0.62885	0.908	T	0.51710	-0.8671	10	0.87932	D	0	-25.7631	13.9454	0.64082	0.0:0.0:0.0:1.0	.	296	Q9UGF6	OR5V1_HUMAN	G	296	ENSP00000366359:D296G;ENSP00000443309:D296G	ENSP00000366356:D296G	D	-	2	0	OR5V1	29431065	1.000000	0.71417	0.932000	0.37286	0.634000	0.38068	6.942000	0.75928	2.021000	0.59480	0.443000	0.29094	GAC		0.378	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			C	29323086	T	C	29323086	3	2	274	1	0	0	0	0	1	0	0	0	11184	1667	58	4	81	4	OR5V1	6	29323086	Missense_Mutation	SNP	T	TCGA-24-2262-01A-01W-0799-08	4965379	29323086	141791981	13	15312											
DAAM2	23500	broad.mit.edu	37	6	39846032	39846032	+	Missense_Mutation	SNP	G	G	A	rs377282686		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr6:39846032G>A	ENST00000398904.2	+	12	1537	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q	DAAM2_ENST00000274867.4_Missense_Mutation_p.R452Q|DAAM2_ENST00000538976.1_Missense_Mutation_p.R452Q			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	452					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R452Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGAAGTTCCGGAAAGGTGAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	6						G	GLN/ARG,GLN/ARG	1,4189		0,1,2094	79	89	86		1355,1355	5.4	1	6		86	0,8404		0,0,4202	no	missense,missense	DAAM2	NM_001201427.1,NM_015345.3	43,43	0,1,6296	AA,AG,GG		0.0,0.0239,0.0079	benign,benign	452/1069,452/1068	39846032	1,12593	2095	4202	6297	39954010	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1355G>A	6.37:g.39846032G>A	ENSP00000381876:p.Arg452Gln		39954010	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867365	0.91511	2.39E-4	0.0	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.73681	-0.77;-0.77;-0.77	5.45	5.45	0.79879	.	0.346678	0.28659	N	0.014562	T	0.79598	0.4473	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.968	T	0.77933	-0.2402	10	0.41790	T	0.15	.	18.8758	0.92334	0.0:0.0:1.0:0.0	.	452;452	G5EA45;Q86T65	.;DAAM2_HUMAN	Q	452	ENSP00000274867:R452Q;ENSP00000381876:R452Q;ENSP00000437808:R452Q	ENSP00000274867:R452Q	R	+	2	0	DAAM2	39954010	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.822000	0.99363	2.555000	0.86185	0.655000	0.94253	CGG		0.552	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			A	39846032	G	A	39846032	3	1	274	1	0	0	0	0	1	0	0	0	4216	1116	39	1	1397	1	DAAM2	6	39846032	Missense_Mutation	SNP	G	TCGA-24-2262-01A-01W-0799-08	10522946	39846032	131269035	14	15313											
DNAH11	8701	broad.mit.edu	37	7	21912912	21912912	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr7:21912912G>C	ENST00000409508.3	+	74	12019	c.11988G>C	c.(11986-11988)aaG>aaC	p.K3996N	DNAH11_ENST00000328843.6_Missense_Mutation_p.K4003N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4003	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K4003N(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGTAGCCAAGTGGCTAGGAA	0.408									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											34	33	33					7																	21912912		1885	4111	5996	21879437	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11988G>C	7.37:g.21912912G>C	ENSP00000475939:p.Lys3996Asn		21879437	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	15.47	2.844302	0.51164	.	.	ENSG00000105877	ENST00000328843	T	0.09255	3.0	5.78	1.82	0.25136	Dynein heavy chain (1);	0.317119	0.33854	N	0.004490	T	0.19127	0.0459	.	.	.	0.44908	D	0.997924	D	0.67145	0.996	P	0.61658	0.892	T	0.02574	-1.1139	9	0.31617	T	0.26	.	6.0514	0.19787	0.2727:0.1237:0.6037:0.0	.	4003	Q96DT5	DYH11_HUMAN	N	4003	ENSP00000330671:K4003N	ENSP00000330671:K4003N	K	+	3	2	DNAH11	21879437	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.384000	0.20668	0.330000	0.23485	0.650000	0.86243	AAG		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		C	21912912	G	C	21912912	3	2	274	1	0	0	0	0	1	0	0	0	4599	1020	36	3	12304	3	DNAH11	7	21912912	Missense_Mutation	SNP	G	TCGA-24-2262-01A-01W-0799-08		21912912	137225751	15	15314											
AUTS2	26053	broad.mit.edu	37	7	70236588	70236588	+	Silent	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr7:70236588C>T	ENST00000342771.4	+	11	2109	c.1788C>T	c.(1786-1788)ccC>ccT	p.P596P	AUTS2_ENST00000406775.2_Silent_p.P596P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	596								p.P596P(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGATCCCACCCACTGGCCCTT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	7											118	103	108					7																	70236588		2203	4300	6503	69874524	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1788C>T	7.37:g.70236588C>T			69874524	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841132	0.16891	.	.	ENSG00000158321	ENST00000443672	T	0.47869	0.83	5.64	4.57	0.56435	.	0.094705	0.85682	D	0.000000	T	0.45915	0.1366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35375	-0.9791	6	.	.	.	-15.2841	6.0174	0.19611	0.2174:0.5911:0.1142:0.0774	.	.	.	.	L	123	ENSP00000393548:P123L	.	P	+	2	0	AUTS2	69874524	0.947000	0.32204	1.000000	0.80357	0.956000	0.61745	0.060000	0.14342	2.669000	0.90835	0.650000	0.86243	CCA		0.532	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			T	70236588	C	T	70236588	2	4	274	1	0	0	0	0	0	0	0	1	1225	581	21	2		2	AUTS2	7	70236588	Silent	SNP	C	TCGA-24-2262-01A-01W-0799-08	48323676	70236588	88902075	16	15315											
COL1A2	1278	broad.mit.edu	37	7	94052392	94052392	+	Missense_Mutation	SNP	G	G	A	rs112697991		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr7:94052392G>A	ENST00000297268.6	+	40	2998	c.2527G>A	c.(2527-2529)Gct>Act	p.A843T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	843			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.A843T(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCTGGCTTCGCTGGTGAGAA	0.527										HNSCC(75;0.22)			G|||	1	0.000199681	8e-04	0	5008	,	,		16689	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7						G	THR/ALA	0,4406		0,0,2203	128	121	123		2527	-1	0.9	7	dbSNP_132	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL1A2	NM_000089.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	843/1367	94052392	1,13005	2203	4300	6503	93890328	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2527G>A	7.37:g.94052392G>A	ENSP00000297268:p.Ala843Thr		93890328	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.56	2.870574	0.51588	0.0	1.16E-4	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93426	-3.22	5.23	-1.03	0.10102	.	0.591070	0.17334	N	0.178009	D	0.83672	0.5305	N	0.16833	0.445	0.20196	N	0.99992	B	0.02656	0.0	B	0.04013	0.001	T	0.72821	-0.4177	10	0.56958	D	0.05	.	5.7653	0.18224	0.4096:0.2333:0.357:0.0	.	843	P08123	CO1A2_HUMAN	T	843;844	ENSP00000297268:A843T	ENSP00000297268:A843T	A	+	1	0	COL1A2	93890328	0.000000	0.05858	0.927000	0.36925	0.950000	0.60333	-2.788000	0.00768	-0.177000	0.10690	0.563000	0.77884	GCT		0.527	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94052392	G	A	94052392	3	1	274	1	0	0	0	0	1	0	0	0	3678	1087	38	1	2685	1	COL1A2	7	94052392	Missense_Mutation	SNP	G	TCGA-24-2262-01A-01W-0799-08	23815804	94052392	65086271	17	15316											
TMEM168	64418	broad.mit.edu	37	7	112407693	112407693	+	Silent	SNP	A	A	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr7:112407693A>C	ENST00000312814.6	-	5	2213	c.1653T>G	c.(1651-1653)ccT>ccG	p.P551P	TMEM168_ENST00000454074.1_Silent_p.P551P	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	551						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.P551P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CTTTCACCCAAGGGGTTGAAT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	7											78	81	80					7																	112407693		2203	4300	6503	112194929	SO:0001819	synonymous_variant	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1653T>G	7.37:g.112407693A>C			112194929	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	ENST00000312814.6	37	CCDS5757.1																																																																																				0.413	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		C	112407693	A	C	112407693	2	2	274	1	0	0	0	0	0	0	0	1	16083	59	3	5		5	TMEM168	7	112407693	Silent	SNP	A	TCGA-24-2262-01A-01W-0799-08	18355301	112407693	46730970	18	15317											
PDP1	54704	broad.mit.edu	37	8	94935840	94935840	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr8:94935840T>G	ENST00000297598.4	+	2	1822	c.1553T>G	c.(1552-1554)aTt>aGt	p.I518S	PDP1_ENST00000396200.3_Missense_Mutation_p.I543S|PDP1_ENST00000520728.1_Missense_Mutation_p.I518S|PDP1_ENST00000517764.1_Missense_Mutation_p.I518S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	518					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.I518S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						AGAGATGACATTACAATCATT	0.423																																																1	Substitution - Missense(1)	ovary(1)	8											98	91	94					8																	94935840		2203	4300	6503	95005016	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1553T>G	8.37:g.94935840T>G	ENSP00000297598:p.Ile518Ser		95005016	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390532	0.62066	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	6.17	6.17	0.99709	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.34925	-0.9809	10	0.87932	D	0	-19.8909	16.8222	0.85835	0.0:0.0:0.0:1.0	.	569;518	B4DYX8;Q9P0J1	.;PDP1_HUMAN	S	518;518;543;518	ENSP00000297598:I518S;ENSP00000428317:I518S;ENSP00000379503:I543S;ENSP00000430380:I518S	ENSP00000297598:I518S	I	+	2	0	PDP1	95005016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.671000	0.83941	2.371000	0.80710	0.533000	0.62120	ATT		0.423	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		G	94935840	T	G	94935840	3	3	274	1	0	0	0	0	1	0	0	0	11685	1493	52	5	1736	5	PDP1	8	94935840	Missense_Mutation	SNP	T	TCGA-24-2262-01A-01W-0799-08		94935840	51428182	19	15318											
FER1L6	654463	broad.mit.edu	37	8	125115513	125115513	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr8:125115513G>A	ENST00000522917.1	+	39	5458	c.5252G>A	c.(5251-5253)cGt>cAt	p.R1751H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1751H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1751						integral component of membrane (GO:0016021)		p.R1751H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAACGTGTGCGTGGCTGGTGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	8											138	134	135					8																	125115513		1925	4149	6074	125184694	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5252G>A	8.37:g.125115513G>A	ENSP00000428280:p.Arg1751His		125184694		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218563	0.79464	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82526	-1.62;-1.62	5.58	5.58	0.84498	.	0.056479	0.64402	U	0.000002	D	0.91257	0.7244	M	0.74881	2.28	0.45634	D	0.998561	D	0.89917	1.0	D	0.79108	0.992	D	0.91169	0.4967	10	0.62326	D	0.03	-19.1959	19.9313	0.97120	0.0:0.0:1.0:0.0	.	1751	Q2WGJ9	FR1L6_HUMAN	H	1751	ENSP00000428280:R1751H;ENSP00000381982:R1751H	ENSP00000381982:R1751H	R	+	2	0	FER1L6	125184694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.311000	0.51919	2.778000	0.95560	0.655000	0.94253	CGT		0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	125115513	G	A	125115513	3	1	274	1	0	0	0	0	1	0	0	0	5815	1145	40	1	5402	1	FER1L6	8	125115513	Missense_Mutation	SNP	G	TCGA-24-2262-01A-01W-0799-08	30179673	125115513	21248509	20	15319											
NEK6	10783	broad.mit.edu	37	9	127110067	127110067	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr9:127110067A>G	ENST00000320246.5	+	9	942	c.797A>G	c.(796-798)tAc>tGc	p.Y266C	NEK6_ENST00000373600.3_Missense_Mutation_p.Y300C|NEK6_ENST00000545174.1_Missense_Mutation_p.Y266C|NEK6_ENST00000546191.1_Missense_Mutation_p.Y266C|NEK6_ENST00000540326.1_Missense_Mutation_p.Y284C|AL137846.1_ENST00000583657.1_RNA|NEK6_ENST00000373603.1_Missense_Mutation_p.Y266C|NEK6_ENST00000394199.2_Missense_Mutation_p.Y300C|NEK6_ENST00000539416.1_Missense_Mutation_p.Y291C	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.Y259C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CAGTGTGACTACCCCCCACTC	0.617																																					NSCLC(122;934 1785 18647 44295 45571)											1	Substitution - Missense(1)	ovary(1)	9											136	140	139					9																	127110067		2203	4300	6503	126149888	SO:0001583	missense	10783			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.797A>G	9.37:g.127110067A>G	ENSP00000319734:p.Tyr266Cys		126149888	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455149	0.63401	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000454453;ENST00000394199;ENST00000546191;ENST00000539416	T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;1.0;-0.17;-0.17;-0.17	5.03	5.03	0.67393	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	0.76543	0.4002	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.988;0.986	T	0.79087	-0.1947	10	0.66056	D	0.02	.	14.1149	0.65146	1.0:0.0:0.0:0.0	.	291;300;266;284	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	C	266;284;300;266;198;266;198;300;266;291	ENSP00000362705:Y266C;ENSP00000441469:Y284C;ENSP00000362702:Y300C;ENSP00000319734:Y266C;ENSP00000442636:Y266C;ENSP00000405215:Y198C;ENSP00000377749:Y300C;ENSP00000441426:Y266C;ENSP00000439651:Y291C	ENSP00000319734:Y266C	Y	+	2	0	NEK6	126149888	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	8.742000	0.91588	2.118000	0.64928	0.533000	0.62120	TAC		0.617	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		G	127110067	A	G	127110067	3	3	274	1	0	0	0	0	1	0	0	0	10328	391	14	4	1012	4	NEK6	9	127110067	Missense_Mutation	SNP	A	TCGA-24-2262-01A-01W-0799-08		127110067	14103364	21	15320											
NUP214	8021	broad.mit.edu	37	9	134108873	134108873	+	Silent	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr9:134108873G>A	ENST00000359428.5	+	36	6416	c.6272G>A	c.(6271-6273)tGa>tAa	p.*2091*	NUP214_ENST00000451030.1_Silent_p.*2092*|NUP214_ENST00000411637.2_Silent_p.*2081*|NUP214_ENST00000483497.2_Silent_p.*917*			P35658	NU214_HUMAN	nucleoporin 214kDa	0					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.*2091*(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGGCGAAGCTGAGGGCGTGTC	0.597			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	1	Substitution - coding silent(1)	ovary(1)	9											92	71	78					9																	134108873		2203	4300	6503	133098694	SO:0001819	synonymous_variant	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.6272G>A	9.37:g.134108873G>A			133098694	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	CCDS6940.1																																																																																				0.597	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		A	134108873	G	A	134108873	2	1	274	1	0	0	0	0	0	0	0	1	10762	1285	45	2		2	NUP214	9	134108873	Silent	SNP	G	TCGA-24-2262-01A-01W-0799-08	6998806	134108873	7104558	22	15321											
C10orf140	387640	broad.mit.edu	37	10	21804259	21804259	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr10:21804259C>A	ENST00000449193.2	-	4	4745	c.2493G>T	c.(2491-2493)aaG>aaT	p.K831N	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K752N	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	750						nucleus (GO:0005634)		p.K831N(1)									TGCTGGCTACCTTTTTGCGTC	0.403																																																1	Substitution - Missense(1)	ovary(1)	10											156	149	151					10																	21804259		1927	4131	6058	21844265	SO:0001583	missense	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2493G>T	10.37:g.21804259C>A	ENSP00000410041:p.Lys831Asn		21844265	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839661	0.51057	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.64	5.64	0.86602	.	0.053060	0.64402	D	0.000001	T	0.45538	0.1347	N	0.14661	0.345	0.41018	D	0.985054	B	0.32245	0.361	B	0.30646	0.118	T	0.50101	-0.8867	9	0.72032	D	0.01	0.2383	20.0534	0.97636	0.0:1.0:0.0:0.0	.	831	E9PAX1	.	N	831;752	.	ENSP00000442432:K752N	K	-	3	2	C10orf140	21844265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.916000	0.39986	2.821000	0.97095	0.655000	0.94253	AAG		0.403	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		A	21804259	C	A	21804259	3	1	274	1	0	0	0	0	1	0	0	0	1595	680	24	3	237	3	C10orf140	10	21804259	Missense_Mutation	SNP	C	TCGA-24-2262-01A-01W-0799-08		21804259	113730488	23	15322											
LDB3	11155	broad.mit.edu	37	10	88459050	88459050	+	Silent	SNP	G	G	T	rs144445130	byFrequency	TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr10:88459050G>T	ENST00000372066.3	+	8	850	c.771G>T	c.(769-771)acG>acT	p.T257T	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Silent_p.T372T|LDB3_ENST00000310944.6_Silent_p.T304T|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000458213.2_Intron	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GGTTTGAAACGGAACGTAACA	0.483																																																0			10											159	169	166					10																	88459050		1923	4142	6065	88449030	SO:0001819	synonymous_variant	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.771G>T	10.37:g.88459050G>T			88449030		Silent	SNP	ENST00000372066.3	37	CCDS41545.1																																																																																				0.483	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			T	88459050	G	T	88459050	2	4	274	1	0	0	0	0	0	0	0	1	8697	1103	39	3		3	LDB3	10	88459050	Silent	SNP	G	TCGA-24-2262-01A-01W-0799-08	66654791	88459050	47075697	24	15323											
C11orf40	143501	broad.mit.edu	37	11	4594547	4594547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr11:4594547G>T	ENST00000307616.1	-	2	296	c.297C>A	c.(295-297)tgC>tgA	p.C99*		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	99								p.C99*(1)		large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTACCCTAAAGCAAGGTCTTT	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	11											215	175	188					11																	4594547		2201	4298	6499	4551123	SO:0001587	stop_gained	143501				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.297C>A	11.37:g.4594547G>T	ENSP00000302918:p.Cys99*		4551123		Nonsense_Mutation	SNP	ENST00000307616.1	37	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	G	7.892	0.732480	0.15507	.	.	ENSG00000171987	ENST00000307616	.	.	.	1.45	-1.97	0.07503	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.9769	0.03418	0.381:0.0:0.3577:0.2613	.	.	.	.	X	99	.	ENSP00000302918:C99X	C	-	3	2	C11orf40	4551123	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.424000	0.07025	-0.653000	0.05401	-0.718000	0.03613	TGC		0.488	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		T	4594547	G	T	4594547	4	4	274	1	0	0	0	0	0	1	0	0	1639	963	34	3	367	3	C11orf40	11	4594547	Nonsense_Mutation	SNP	G	TCGA-24-2262-01A-01W-0799-08		4594547	130411969	25	15324											
TRIM3	10612	broad.mit.edu	37	11	6478209	6478209	+	Silent	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr11:6478209G>A	ENST00000525074.1	-	6	1141	c.747C>T	c.(745-747)ggC>ggT	p.G249G	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000359518.3_Silent_p.G249G|TRIM3_ENST00000536344.1_Silent_p.G130G|TRIM3_ENST00000345851.3_Silent_p.G249G	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	249					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G249G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGCTACTGCCGATGTGTT	0.647																																					Melanoma(6;5 510 1540 25169 29084)											1	Substitution - coding silent(1)	ovary(1)	11											55	57	56					11																	6478209		2201	4296	6497	6434785	SO:0001819	synonymous_variant	10612			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.747C>T	11.37:g.6478209G>A			6434785	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	CCDS7764.1																																																																																				0.647	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		A	6478209	G	A	6478209	2	1	274	1	0	0	0	0	0	0	0	1	16504	1306	46	2		2	TRIM3	11	6478209	Silent	SNP	G	TCGA-24-2262-01A-01W-0799-08	1883662	6478209	128528307	26	15325											
TTC17	55761	broad.mit.edu	37	11	43472793	43472793	+	Missense_Mutation	SNP	G	G	A	rs372683087|rs34999083		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr11:43472793G>A	ENST00000039989.4	+	21	3022	c.3008G>A	c.(3007-3009)cGa>cAa	p.R1003Q		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1003					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R1003Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATTGGCACCCGAATTGCCAAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	11						G	GLN/ARG	0,4406		0,0,2203	99	94	96		3008	5.8	1	11		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC17	NM_018259.5	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1003/1142	43472793	1,13005	2203	4300	6503	43429369	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3008G>A	11.37:g.43472793G>A	ENSP00000039989:p.Arg1003Gln		43429369	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.343505|5.343505	0.95783|0.95783	0.0|0.0	1.16E-4|1.16E-4	ENSG00000052841|ENSG00000052841	ENST00000418561|ENST00000039989	.|T	.|0.36699	.|1.24	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54208|0.54208	0.1844|0.1844	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.72625	.|0.978	T|T	0.34650|0.34650	-0.9820|-0.9820	5|10	.|0.24483	.|T	.|0.36	-9.1702|-9.1702	18.3318|18.3318	0.90271|0.90271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1003	.|Q96AE7	.|TTC17_HUMAN	K|Q	22|1003	.|ENSP00000039989:R1003Q	.|ENSP00000039989:R1003Q	E|R	+|+	1|2	0|0	TTC17|TTC17	43429369|43429369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.528000|8.528000	0.90598|0.90598	2.757000|2.757000	0.94681|0.94681	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.403	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		A	43472793	G	A	43472793	3	1	274	1	0	0	0	0	1	0	0	0	16684	1058	37	1	3090	1	TTC17	11	43472793	Missense_Mutation	SNP	G	TCGA-24-2262-01A-01W-0799-08	36994584	43472793	91533723	27	15326											
OR4D10	390197	broad.mit.edu	37	11	59245208	59245208	+	Silent	SNP	T	T	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr11:59245208T>C	ENST00000530162.1	+	1	363	c.306T>C	c.(304-306)ttT>ttC	p.F102F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F100F(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCAGATGTTTCTATTCCACC	0.468																																																1	Substitution - coding silent(1)	ovary(1)	11											94	95	94					11																	59245208		2103	4240	6343	59001784	SO:0001819	synonymous_variant	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.306T>C	11.37:g.59245208T>C			59001784	B2RNH6	Silent	SNP	ENST00000530162.1	37	CCDS53636.1																																																																																				0.468	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		C	59245208	T	C	59245208	2	2	274	1	0	0	0	0	0	0	0	1	11054	1780	62	4		4	OR4D10	11	59245208	Silent	SNP	T	TCGA-24-2262-01A-01W-0799-08	15772415	59245208	75761308	28	15327											
NINJ2	283358	broad.mit.edu	37	12	675225	675225	+	IGR	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr12:675225C>T	ENST00000266383.5	+	0	5068				NINJ2_ENST00000397265.3_Silent_p.K44K|NINJ2_ENST00000542920.1_Silent_p.K15K|NINJ2_ENST00000433832.2_Silent_p.K15K|NINJ2_ENST00000305108.4_Silent_p.K97K|NINJ2_ENST00000537416.1_Intron	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.K97K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCAGCACCGCCTTCAGCCGCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	12											146	100	116					12																	675225		2203	4300	6503	545486	SO:0001628	intergenic_variant	4815			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675225C>T			545486	Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	CCDS8504.1																																																																																				0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		T	675225	C	T	675225	1	4	274	0	1	0	0	0	0	0	0	0	10419	680	24	2		2	NINJ2	12	675225	IGR	SNP	C	TCGA-24-2262-01A-01W-0799-08		675225	133176670	29	15328											
UBE3B	89910	broad.mit.edu	37	12	109961915	109961915	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr12:109961915A>T	ENST00000342494.3	+	22	3092	c.2497A>T	c.(2497-2499)Atc>Ttc	p.I833F	UBE3B_ENST00000434735.2_Missense_Mutation_p.I833F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	833	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I833F(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCTCACCTCCATCAAGGTGAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											78	70	73					12																	109961915		2203	4300	6503	108446298	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2497A>T	12.37:g.109961915A>T	ENSP00000340596:p.Ile833Phe		108446298	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	A	35	5.461905	0.96240	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000538070	T;T;T	0.60548	0.18;0.18;0.18	5.05	5.05	0.67936	HECT (4);	0.047901	0.85682	D	0.000000	T	0.79616	0.4476	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.84119	0.0405	10	0.72032	D	0.01	-21.4827	14.1129	0.65134	1.0:0.0:0.0:0.0	.	833	Q7Z3V4	UBE3B_HUMAN	F	833;833;833;128	ENSP00000391529:I833F;ENSP00000443131:I833F;ENSP00000340596:I833F	ENSP00000340596:I833F	I	+	1	0	UBE3B	108446298	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	8.683000	0.91236	2.128000	0.65567	0.459000	0.35465	ATC		0.532	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		T	109961915	A	T	109961915	3	4	274	1	0	0	0	0	1	0	0	0	16880	217	8	5	2575	5	UBE3B	12	109961915	Missense_Mutation	SNP	A	TCGA-24-2262-01A-01W-0799-08	109286690	109961915	23889980	30	15329											
SLC7A8	23428	broad.mit.edu	37	14	23609786	23609786	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr14:23609786C>T	ENST00000316902.7	-	5	1407	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000529705.2_Missense_Mutation_p.E123K|SLC7A8_ENST00000469263.1_Missense_Mutation_p.E228K|SLC7A8_ENST00000453702.1_Missense_Mutation_p.E25K	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	228					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.E228K(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	ATGTCAGGTTCCTGGAAATTC	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											147	145	146					14																	23609786		2203	4300	6503	22679626	SO:0001583	missense	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.682G>A	14.37:g.23609786C>T	ENSP00000320378:p.Glu228Lys		22679626	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059610	0.36373	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000469263;ENST00000453702;ENST00000529705;ENST00000206514	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	4.81	2.95	0.34219	Amino acid permease domain (1);	0.503622	0.22202	N	0.063231	T	0.75568	0.3867	N	0.12887	0.27	0.80722	D	1	B;B;B	0.14012	0.009;0.003;0.003	B;B;B	0.17979	0.02;0.008;0.014	T	0.65331	-0.6194	10	0.13470	T	0.59	.	9.1864	0.37174	0.0:0.7533:0.0:0.2467	.	123;228;228	B4DKT4;E9PLV9;Q9UHI5	.;.;LAT2_HUMAN	K	228;25;228;25;123;25	ENSP00000320378:E228K;ENSP00000435114:E228K;ENSP00000391577:E25K;ENSP00000434345:E123K	ENSP00000206514:E25K	E	-	1	0	SLC7A8	22679626	0.991000	0.36638	0.996000	0.52242	0.975000	0.68041	0.811000	0.27198	1.177000	0.42855	0.563000	0.77884	GAA		0.537	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			T	23609786	C	T	23609786	3	4	274	1	0	0	0	0	1	0	0	0	14707	864	30	2	953	2	SLC7A8	14	23609786	Missense_Mutation	SNP	C	TCGA-24-2262-01A-01W-0799-08		23609786	83739754	31	15330											
KCNH5	27133	broad.mit.edu	37	14	63483609	63483609	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr14:63483609C>A	ENST00000322893.7	-	2	405	c.137G>T	c.(136-138)gGt>gTt	p.G46V	KCNH5_ENST00000394964.2_5'UTR|KCNH5_ENST00000394968.1_5'UTR|KCNH5_ENST00000420622.2_Missense_Mutation_p.G46V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	46	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.G46V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTACAAAAACCGTCATTACT	0.378																																																1	Substitution - Missense(1)	ovary(1)	14											102	93	96					14																	63483609		2203	4299	6502	62553362	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.137G>T	14.37:g.63483609C>A	ENSP00000321427:p.Gly46Val		62553362	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884120	0.91814	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.99563	-6.17;-6.17	5.43	5.43	0.79202	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99680	0.9880	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.79784	0.929;0.993	D	0.97835	1.0265	10	0.87932	D	0	.	19.2407	0.93881	0.0:1.0:0.0:0.0	.	46;46	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	V	46	ENSP00000321427:G46V;ENSP00000395439:G46V	ENSP00000321427:G46V	G	-	2	0	KCNH5	62553362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.569000	0.86673	0.591000	0.81541	GGT		0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		A	63483609	C	A	63483609	3	1	274	1	0	0	0	0	1	0	0	0	8035	507	18	3	2903	3	KCNH5	14	63483609	Missense_Mutation	SNP	C	TCGA-24-2262-01A-01W-0799-08	39873823	63483609	43865931	32	15331											
DYNC1H1	1778	broad.mit.edu	37	14	102489219	102489219	+	Splice_Site	SNP	T	T	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr14:102489219T>A	ENST00000360184.4	+	43	8801		c.e43+2			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGTCAAAGGTAGCAAACTCG	0.423																																																1	Unknown(1)	ovary(1)	14											203	168	180					14																	102489219		2203	4300	6503	101558972	SO:0001630	splice_region_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8637+2T>A	14.37:g.102489219T>A			101558972	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865127	0.51482	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2481	0.49008	0.0:0.0741:0.0:0.9259	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101558972	1.000000	0.71417	0.943000	0.38184	0.487000	0.33371	5.955000	0.70306	2.005000	0.58758	0.383000	0.25322	.		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	A	102489219	T	A	102489219	5	1	274	1	0	0	0	0	0	0	1	0	4841	1652	57	5	8809	5	DYNC1H1	14	102489219	Splice_Site	SNP	T	TCGA-24-2262-01A-01W-0799-08	39005610	102489219	4860321	33	15332											
NLRC3	197358	broad.mit.edu	37	16	3598160	3598160	+	RNA	SNP	G	G	C			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr16:3598160G>C	ENST00000301749.7	-	0	3151				NLRC3_ENST00000603507.1_RNA|LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L962V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCTGTTGAGCTGTAGTGCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											32	35	34					16																	3598160		1958	4131	6089	3538161			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3598160G>C			3538161	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37		.	.	.	.	.	.	.	.	.	.	G	11.76	1.735390	0.30774	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.52983	0.64;0.64;0.64	4.84	2.26	0.28386	.	0.394433	0.26143	N	0.026086	T	0.13884	0.0336	N	0.00815	-1.16	0.19775	N	0.999955	B	0.09022	0.002	B	0.14023	0.01	T	0.23833	-1.0177	10	0.15499	T	0.54	.	5.0393	0.14451	0.3471:0.0:0.6529:0.0	.	962	C9JLH9	.	V	916;887;962	ENSP00000301749:L916V;ENSP00000352039:L887V;ENSP00000414415:L962V	ENSP00000301749:L916V	L	-	1	0	NLRC3	3538161	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	1.606000	0.36826	1.045000	0.40225	0.557000	0.71058	CTC		0.587	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		C	3598160	G	C	3598160	1	2	274	0	1	0	0	0	0	0	0	0	10468	971	34	3		3	NLRC3	16	3598160	RNA	SNP	G	TCGA-24-2262-01A-01W-0799-08		3598160	86756593	34	15333											
ALG1	56052	broad.mit.edu	37	16	5131001	5131001	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr16:5131001A>G	ENST00000262374.5	+	10	1047	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	ALG1_ENST00000588623.1_Missense_Mutation_p.Q228R|ALG1_ENST00000544428.1_Missense_Mutation_p.Q228R	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	339					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.Q339R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AAGCACTTCCAGCACATCCAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											76	93	87					16																	5131001		1385	2358	3743	5071002	SO:0001583	missense	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1016A>G	16.37:g.5131001A>G	ENSP00000262374:p.Gln339Arg		5071002	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	A	8.115	0.779672	0.16120	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	D;D	0.84298	-1.83;-1.83	6.07	0.186	0.15105	Glycosyl transferase, family 1 (1);	0.351137	0.33161	N	0.005210	T	0.77718	0.4172	L	0.46741	1.465	0.40506	D	0.980691	B;B	0.14012	0.003;0.009	B;B	0.19391	0.01;0.025	T	0.66208	-0.5981	10	0.34782	T	0.22	-16.4513	9.69	0.40123	0.6472:0.0:0.3528:0.0	.	228;339	B4DP08;Q9BT22	.;ALG1_HUMAN	R	339;228	ENSP00000262374:Q339R;ENSP00000440019:Q228R	ENSP00000262374:Q339R	Q	+	2	0	ALG1	5071002	0.993000	0.37304	0.427000	0.26684	0.020000	0.10135	0.924000	0.28777	-0.025000	0.13918	0.528000	0.53228	CAG		0.612	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		G	5131001	A	G	5131001	3	3	274	1	0	0	0	0	1	0	0	0	510	188	7	4	1054	4	ALG1	16	5131001	Missense_Mutation	SNP	A	TCGA-24-2262-01A-01W-0799-08	1532841	5131001	85223752	35	15334											
KIAA0556	23247	broad.mit.edu	37	16	27788290	27788290	+	Silent	SNP	G	G	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr16:27788290G>T	ENST00000261588.4	+	25	4510	c.4491G>T	c.(4489-4491)gtG>gtT	p.V1497V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1497						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V1497V(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTACCACCGTGTCAATGATCA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	16											220	215	217					16																	27788290		2197	4300	6497	27695791	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4491G>T	16.37:g.27788290G>T			27695791	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.448	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27788290	G	T	27788290	2	4	274	1	0	0	0	0	0	0	0	1	8183	1364	48	3		3	KIAA0556	16	27788290	Silent	SNP	G	TCGA-24-2262-01A-01W-0799-08	22657289	27788290	62566463	36	15335											
SLC6A2	6530	broad.mit.edu	37	16	55735775	55735775	+	Splice_Site	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr16:55735775A>G	ENST00000379906.2	+	13	2014	c.1759A>G	c.(1759-1761)Aga>Gga	p.R587G	SLC6A2_ENST00000414754.3_Splice_Site_p.R531G|SLC6A2_ENST00000566163.1_Splice_Site_p.R542G|SLC6A2_ENST00000219833.8_Splice_Site_p.R587G|SLC6A2_ENST00000567238.1_Splice_Site_p.R482G|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000568943.1_Splice_Site_p.R587G	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	587					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.R587G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTCCTTTCAGAGACTGGCCTA	0.612											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	16											74	73	73					16																	55735775		2198	4300	6498	54293276	SO:0001630	splice_region_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1759-1A>G	16.37:g.55735775A>G		1010	54293276	B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553451	0.65425	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.79033	-1.23;-1.17	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	N	0.19112	0.55	0.80722	D	1	P;P;P	0.44521	0.837;0.615;0.615	B;B;B	0.38985	0.287;0.284;0.284	T	0.63791	-0.6557	9	.	.	.	.	13.7726	0.63036	1.0:0.0:0.0:0.0	.	301;482;587	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	G	587;301;587;587	ENSP00000369237:R587G;ENSP00000219833:R587G	.	R	+	1	2	SLC6A2	54293276	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.388000	0.66249	1.902000	0.55061	0.528000	0.53228	AGA		0.612	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		Missense_Mutation	G	55735775	A	G	55735775	5	3	274	1	0	0	0	0	0	0	1	0	14686	318	11	4	1900	4	SLC6A2	16	55735775	Splice_Site	SNP	A	TCGA-24-2262-01A-01W-0799-08	27947485	55735775	34618978	37	15336											
ANKFY1	51479	broad.mit.edu	37	17	4076650	4076650	+	Splice_Site	SNP	T	T	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr17:4076650T>G	ENST00000341657.4	-	21	3048	c.3013A>C	c.(3013-3015)Aga>Cga	p.R1005R	ANKFY1_ENST00000574367.1_Splice_Site_p.R1006R|ANKFY1_ENST00000570535.1_Splice_Site_p.R1047R|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1005					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.R1006R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCGCTCACCTGAGATTAAAG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	17											57	62	61					17																	4076650		1953	4147	6100	4023399	SO:0001630	splice_region_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3014+1A>C	17.37:g.4076650T>G			4023399	A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37																																																																																					0.622	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	Silent	G	4076650	T	G	4076650	5	3	274	1	0	0	0	0	0	0	1	0	626	1594	55	5	516	5	ANKFY1	17	4076650	Splice_Site	SNP	T	TCGA-24-2262-01A-01W-0799-08		4076650	77118560	38	15337											
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr17:7578534C>A	ENST00000269305.4	-	5	585	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)	GGCAAAACATCTTGTTGAGGG	0.562		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"	77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	17											47	48	48					17																	7578534		2203	4300	6503	7519259	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.396G>T	17.37:g.7578534C>A	ENSP00000269305:p.Lys132Asn		7519259	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186174	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	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	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578534	C	A	7578534	3	1	274	1	0	0	0	0	1	0	0	0	16381	912	32	3	902	3	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-24-2262-01A-01W-0799-08	3501884	7578534	73616676	39	15338											
KRT17	3872	broad.mit.edu	37	17	39780467	39780467	+	Silent	SNP	G	G	A	rs57674130|rs267607416|rs267607415|rs267607414		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr17:39780467G>A	ENST00000311208.8	-	1	362	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	99	Coil 1A.|Rod.		L -> P (in PC2). {ECO:0000269|PubMed:11886499}.	Missing (in Ref. 5; AAH72018). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)	p.L99L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				ACCTTGTCCAGGTAGGAGGCC	0.637																																					Pancreas(92;1242 2086 39193 50508)											1	Substitution - coding silent(1)	ovary(1)	17	GRCh37	CD012267	KRT17	D							92	99	97					17																	39780467		2203	4298	6501	37033993	SO:0001819	synonymous_variant	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.295C>T	17.37:g.39780467G>A			37033993	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																				0.637	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		A	39780467	G	A	39780467	2	1	274	1	0	0	0	0	0	0	0	1	8454	991	35	2		2	KRT17	17	39780467	Silent	SNP	G	TCGA-24-2262-01A-01W-0799-08	32201933	39780467	41414743	40	15339											
TMEM105	284186	broad.mit.edu	37	17	79287664	79287664	+	Silent	SNP	G	G	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr17:79287664G>T	ENST00000332900.1	-	3	726	c.177C>A	c.(175-177)tcC>tcA	p.S59S		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	59						integral component of membrane (GO:0016021)		p.S59S(1)		NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			ACCGAGGTGGGGACCCCTGGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	17											34	43	40					17																	79287664		2200	4298	6498	76902259	SO:0001819	synonymous_variant	284186			AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.177C>A	17.37:g.79287664G>T			76902259		Silent	SNP	ENST00000332900.1	37	CCDS11781.1																																																																																				0.627	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		T	79287664	G	T	79287664	2	4	274	1	0	0	0	0	0	0	0	1	16019	1219	43	3		3	TMEM105	17	79287664	Silent	SNP	G	TCGA-24-2262-01A-01W-0799-08	39507197	79287664	1907546	41	15340											
LAMA1	284217	broad.mit.edu	37	18	7013922	7013922	+	Silent	SNP	G	G	A	rs375804587		TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr18:7013922G>A	ENST00000389658.3	-	23	3348	c.3255C>T	c.(3253-3255)ccC>ccT	p.P1085P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1085	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P1085P(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAACACAGTCGGGAAAGTCTC	0.612																																																1	Substitution - coding silent(1)	ovary(1)	18						G		0,4406		0,0,2203	58	49	52		3255	-3.2	1	18		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMA1	NM_005559.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1085/3076	7013922	1,13005	2203	4300	6503	7003922	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3255C>T	18.37:g.7013922G>A			7003922		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.612	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7013922	G	A	7013922	2	1	274	1	0	0	0	0	0	0	0	1	8605	1103	39	1		1	LAMA1	18	7013922	Silent	SNP	G	TCGA-24-2262-01A-01W-0799-08		7013922	71063326	42	15341											
ZNF521	25925	broad.mit.edu	37	18	22805704	22805704	+	Silent	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr18:22805704G>A	ENST00000361524.3	-	4	2326	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L	ZNF521_ENST00000584787.1_Silent_p.L506L|ZNF521_ENST00000538137.2_Silent_p.L726L|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	726					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.L726L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTCCTGGCAGAGGGTGCAGC	0.458			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - coding silent(1)	ovary(1)	18											78	79	79					18																	22805704		2203	4300	6503	21059702	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2178C>T	18.37:g.22805704G>A			21059702	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																				0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		A	22805704	G	A	22805704	2	1	274	1	0	0	0	0	0	0	0	1	17965	929	33	2		2	ZNF521	18	22805704	Silent	SNP	G	TCGA-24-2262-01A-01W-0799-08	15791782	22805704	55271544	43	15342											
ZNF564	163050	broad.mit.edu	37	19	12638453	12638453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr19:12638453G>A	ENST00000339282.7	-	4	665	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R157*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATGTCTTCGAAAGGATTGA	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	19											105	112	110					19																	12638453		2200	4299	6499	12499453	SO:0001587	stop_gained	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.469C>T	19.37:g.12638453G>A	ENSP00000340004:p.Arg157*		12499453	B9EGT4|Q6P1K6	Nonsense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803077	0.90623	.	.	ENSG00000249709	ENST00000339282	.	.	.	1.71	0.599	0.17519	.	.	.	.	.	.	.	.	.	.	.	0.20975	N	0.999818	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.4997	0.27511	0.0:0.2715:0.7285:0.0	.	.	.	.	X	157	.	ENSP00000340004:R157X	R	-	1	2	ZNF564	12499453	0.031000	0.19500	0.005000	0.12908	0.937000	0.57800	-0.367000	0.07553	0.271000	0.22005	0.643000	0.83706	CGA		0.418	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		A	12638453	G	A	12638453	4	1	274	1	0	0	0	0	0	1	0	0	17995	1066	37	1	1196	1	ZNF564	19	12638453	Nonsense_Mutation	SNP	G	TCGA-24-2262-01A-01W-0799-08		12638453	46490530	44	15343											
ZFP14	57677	broad.mit.edu	37	19	36832293	36832293	+	Silent	SNP	A	A	G			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr19:36832293A>G	ENST00000270001.7	-	5	550	c.435T>C	c.(433-435)atT>atC	p.I145I		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	145					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.I145I(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TTTCAGAGGTAATTTTCACTT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	19											144	136	139					19																	36832293		2203	4300	6503	41524133	SO:0001819	synonymous_variant	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.435T>C	19.37:g.36832293A>G			41524133	A7MD23	Silent	SNP	ENST00000270001.7	37	CCDS33002.1																																																																																				0.383	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		G	36832293	A	G	36832293	2	3	274	1	0	0	0	0	0	0	0	1	17639	358	13	4		4	ZFP14	19	36832293	Silent	SNP	A	TCGA-24-2262-01A-01W-0799-08	24193840	36832293	22296690	45	15344											
ATP9A	10079	broad.mit.edu	37	20	50234046	50234046	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chr20:50234046C>T	ENST00000338821.5	-	22	2662	c.2398G>A	c.(2398-2400)Gtg>Atg	p.V800M	ATP9A_ENST00000311637.5_Missense_Mutation_p.V664M|ATP9A_ENST00000402822.1_Missense_Mutation_p.V679M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	800					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V800M(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCACTCCCACGCCGCAGTCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	20											134	85	102					20																	50234046		2203	4300	6503	49667453	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2398G>A	20.37:g.50234046C>T	ENSP00000342481:p.Val800Met		49667453	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454708	0.63290	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.83673	-1.75;-1.75;-1.75	5.15	5.15	0.70609	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	H	0.95645	3.7	0.80722	D	1	D;D	0.58620	0.981;0.983	P;P	0.56398	0.64;0.797	D	0.94957	0.8105	10	0.87932	D	0	-26.5456	18.6016	0.91249	0.0:1.0:0.0:0.0	.	679;800	O75110-2;O75110	.;ATP9A_HUMAN	M	664;800;679	ENSP00000309086:V664M;ENSP00000342481:V800M;ENSP00000385875:V679M	ENSP00000309086:V664M	V	-	1	0	ATP9A	49667453	1.000000	0.71417	0.992000	0.48379	0.225000	0.24961	4.574000	0.60900	2.374000	0.81015	0.511000	0.50034	GTG		0.493	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		T	50234046	C	T	50234046	3	4	274	1	0	0	0	0	1	0	0	0	1198	536	19	1	773	1	ATP9A	20	50234046	Missense_Mutation	SNP	C	TCGA-24-2262-01A-01W-0799-08		50234046	12791474	46	15345											
RBM41	55285	broad.mit.edu	37	X	106312507	106312507	+	Silent	SNP	G	G	A			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chrX:106312507G>A	ENST00000372479.3	-	6	1083	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	RBM41_ENST00000372487.1_Silent_p.G351G	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	351	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G351G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TAAAAGCCTGGCCCCTCATTC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	X											145	131	136					X																	106312507		2203	4300	6503	106199163	SO:0001819	synonymous_variant	55285			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"RNA binding motif (RRM) containing"	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1053C>T	X.37:g.106312507G>A			106199163	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Silent	SNP	ENST00000372479.3	37	CCDS14526.1																																																																																				0.443	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		A	106312507	G	A	106312507	2	1	274	1	0	0	0	0	0	0	0	1	13138	1190	42	2		2	RBM41	23	106312507	Silent	SNP	G	TCGA-24-2262-01A-01W-0799-08		106312507	48958053	47	15346											
SLITRK2	84631	broad.mit.edu	37	X	144904007	144904007	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2262-01A-01W-0799-08	TCGA-24-2262-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b5897a0d-cc87-45b5-9048-697c9ae6f0fb	56503e00-58ef-44f7-bc0e-565ee8d0fc11	g.chrX:144904007C>T	ENST00000370490.1	+	1	4319	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	SLITRK2_ENST00000413937.2_Missense_Mutation_p.R22C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R22C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R22C|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R22C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	22					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R22C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GACAGAGAGTCGCAAAACTGC	0.468																																																1	Substitution - Missense(1)	ovary(1)	X											74	65	68					X																	144904007		2203	4300	6503	144711699	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.64C>T	X.37:g.144904007C>T	ENSP00000359521:p.Arg22Cys		144711699	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105992	0.77096	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52754	0.7;0.65;0.65;0.65;0.65;0.65	4.56	4.56	0.56223	.	0.135690	0.45867	U	0.000324	T	0.53965	0.1829	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	T	0.51996	-0.8634	10	0.36615	T	0.2	-5.6787	13.8997	0.63794	0.0:1.0:0.0:0.0	.	22	Q9H156	SLIK2_HUMAN	C	22	ENSP00000334374:R22C;ENSP00000411681:R22C;ENSP00000359521:R22C;ENSP00000397015:R22C;ENSP00000407347:R22C;ENSP00000412010:R22C	ENSP00000334374:R22C	R	+	1	0	SLITRK2	144711699	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.493000	0.60341	1.846000	0.53633	0.436000	0.28706	CGC		0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		T	144904007	C	T	144904007	3	4	274	1	0	0	0	0	1	0	0	0	14746	884	31	1	66	1	SLITRK2	23	144904007	Missense_Mutation	SNP	C	TCGA-24-2262-01A-01W-0799-08	38591500	144904007	10366553	48	15347											
VPS13D	55187	broad.mit.edu	37	1	12557552	12557552	+	Splice_Site	SNP	A	A	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr1:12557552A>G	ENST00000358136.3	+	68	12792		c.e68-1		VPS13D_ENST00000496628.1_Splice_Site|VPS13D_ENST00000356315.4_Splice_Site|VPS13D_ENST00000543710.1_Splice_Site|VPS13D_ENST00000471923.1_Splice_Site|VPS13D_ENST00000543766.1_Splice_Site	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.?(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTACCCATCTAGGACTCAAGC	0.502																																																1	Unknown(1)	ovary(1)	1											60	58	59					1																	12557552		2203	4300	6503	12480139	SO:0001630	splice_region_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12663-1A>G	1.37:g.12557552A>G			12480139		Splice_Site	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274340	0.80580	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000011700;ENST00000543766;ENST00000543710	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7393	0.77876	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12480139	1.000000	0.71417	0.937000	0.37676	0.934000	0.57294	7.663000	0.83820	2.308000	0.77769	0.533000	0.62120	.		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Intron	G	12557552	A	G	12557552	5	3	275	1	0	0	0	0	0	0	1	0	17192	434	15	4	12927	4	VPS13D	1	12557552	Splice_Site	SNP	A	TCGA-24-2267-01A-01W-0799-08		12557552	236693069	1	15348											
ACTL8	81569	broad.mit.edu	37	1	18152313	18152313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr1:18152313C>T	ENST00000375406.1	+	3	616	c.400C>T	c.(400-402)Cag>Tag	p.Q134*		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	134					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q134*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGACCAGCTGCAGATGTCCCT	0.612											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	ovary(1)	1											87	73	78					1																	18152313		2203	4300	6503	18024900	SO:0001587	stop_gained	81569			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.400C>T	1.37:g.18152313C>T	ENSP00000364555:p.Gln134*	723	18024900	Q13104|Q96M75	Nonsense_Mutation	SNP	ENST00000375406.1	37	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421439	0.42918	.	.	ENSG00000117148	ENST00000375406	.	.	.	4.52	-3.74	0.04385	.	0.493419	0.16850	N	0.196985	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.2448	13.1846	0.59673	0.0:0.5892:0.2982:0.1126	.	.	.	.	X	134	.	ENSP00000364555:Q134X	Q	+	1	0	ACTL8	18024900	1.000000	0.71417	0.686000	0.30086	0.006000	0.05464	2.926000	0.48892	-0.396000	0.07703	-0.951000	0.02657	CAG		0.612	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		T	18152313	C	T	18152313	4	4	275	1	0	0	0	0	0	1	0	0	202	711	25	2	406	2	ACTL8	1	18152313	Nonsense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	5594761	18152313	231098308	2	15349											
ZMYM6	9204	broad.mit.edu	37	1	35480424	35480424	+	Silent	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr1:35480424T>C	ENST00000357182.4	-	6	896	c.669A>G	c.(667-669)aaA>aaG	p.K223K	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Silent_p.K223K|ZMYM6_ENST00000487874.1_Silent_p.K223K	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	223					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K223K(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TAGAGTGAAATTTTGAAAAAC	0.373																																																1	Substitution - coding silent(1)	ovary(1)	1											99	90	93					1																	35480424		2203	4300	6503	35253011	SO:0001819	synonymous_variant	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.669A>G	1.37:g.35480424T>C			35253011	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	CCDS387.2																																																																																				0.373	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		C	35480424	T	C	35480424	2	2	275	1	0	0	0	0	0	0	0	1	17704	1490	52	4		4	ZMYM6	1	35480424	Silent	SNP	T	TCGA-24-2267-01A-01W-0799-08	17328111	35480424	213770197	3	15350											
LHX8	431707	broad.mit.edu	37	1	75622678	75622678	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr1:75622678C>A	ENST00000294638.5	+	9	1575	c.911C>A	c.(910-912)cCa>cAa	p.P304Q	LHX8_ENST00000356261.3_Missense_Mutation_p.P294Q	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	304					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P304Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGGCTGTCTCCACCCATGTTA	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											250	217	228					1																	75622678		2203	4300	6503	75395266	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.911C>A	1.37:g.75622678C>A	ENSP00000294638:p.Pro304Gln		75395266	E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596593	0.66332	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86865	-2.18;-2.16	5.12	5.12	0.69794	.	0.209202	0.51477	D	0.000098	D	0.90177	0.6930	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90095	0.4180	10	0.52906	T	0.07	.	18.9441	0.92615	0.0:1.0:0.0:0.0	.	304	Q68G74	LHX8_HUMAN	Q	304;294	ENSP00000294638:P304Q;ENSP00000348597:P294Q	ENSP00000294638:P304Q	P	+	2	0	LHX8	75395266	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.677000	0.68142	2.556000	0.86216	0.455000	0.32223	CCA		0.493	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		A	75622678	C	A	75622678	3	1	275	1	0	0	0	0	1	0	0	0	8776	594	21	3	941	3	LHX8	1	75622678	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	40142254	75622678	173627943	4	15351											
HSD3B2	3284	broad.mit.edu	37	1	119964949	119964949	+	Silent	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr1:119964949T>C	ENST00000543831.1	+	4	1074	c.825T>C	c.(823-825)ttT>ttC	p.F275F	HSD3B2_ENST00000369416.3_Silent_p.F275F	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	275					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.F275F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GCAAAGAGTTTGGCCTCCGCC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	1											79	83	82					1																	119964949		2203	4300	6503	119766472	SO:0001819	synonymous_variant	3284			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.825T>C	1.37:g.119964949T>C			119766472	A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	CCDS902.1																																																																																				0.473	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		C	119964949	T	C	119964949	2	2	275	1	0	0	0	0	0	0	0	1	7391	1809	63	4		4	HSD3B2	1	119964949	Silent	SNP	T	TCGA-24-2267-01A-01W-0799-08	44342271	119964949	129285672	5	15352											
C1orf25	81627	broad.mit.edu	37	1	185113066	185113066	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr1:185113066A>G	ENST00000367506.5	-	6	1019	c.751T>C	c.(751-753)Tat>Cat	p.Y251H	TRMT1L_ENST00000367504.3_Missense_Mutation_p.Y95H	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	251	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.Y251H(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGTTAAAATAGGAATCTGTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											82	86	85					1																	185113066		2203	4300	6503	183379689	SO:0001583	missense	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.751T>C	1.37:g.185113066A>G	ENSP00000356476:p.Tyr251His		183379689	Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899574	0.91962	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	4.88	4.88	0.63580	.	0.061213	0.64402	D	0.000002	T	0.67401	0.2889	L	0.43152	1.355	0.53688	D	0.99997	D	0.71674	0.998	D	0.68353	0.957	T	0.70846	-0.4761	9	0.87932	D	0	-16.7135	13.3615	0.60659	1.0:0.0:0.0:0.0	.	251	Q7Z2T5	TRM1L_HUMAN	H	95;251	.	ENSP00000356474:Y95H	Y	-	1	0	TRMT1L	183379689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.399000	0.90197	1.943000	0.56356	0.477000	0.44152	TAT		0.343	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		G	185113066	A	G	185113066	3	3	275	1	0	0	0	0	1	0	0	0	2034	420	15	4	1490	4	C1orf25	1	185113066	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	65148117	185113066	64137555	6	15353											
NBAS	51594	broad.mit.edu	37	2	15330512	15330512	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:15330512T>A	ENST00000281513.5	-	49	6473	c.6448A>T	c.(6448-6450)Att>Ttt	p.I2150F	NBAS_ENST00000441750.1_Missense_Mutation_p.I2030F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2150					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.I2150F(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCATTCTCAATGTCAGCTATG	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											103	104	104					2																	15330512		2203	4300	6503	15247963	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6448A>T	2.37:g.15330512T>A	ENSP00000281513:p.Ile2150Phe		15247963	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919360	0.73098	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283;ENST00000423602	T;T	0.10668	2.85;3.03	5.47	-4.32	0.03688	.	0.555420	0.20111	N	0.099008	T	0.17534	0.0421	L	0.48642	1.525	0.09310	N	0.999999	D;P	0.64830	0.994;0.49	P;B	0.59424	0.857;0.149	T	0.03296	-1.1051	10	0.87932	D	0	.	12.5309	0.56115	0.0:0.4952:0.0:0.5048	.	2030;2150	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	F	2030;2150;6;4	ENSP00000413201:I2030F;ENSP00000281513:I2150F	ENSP00000281513:I2150F	I	-	1	0	NBAS	15247963	0.036000	0.19791	0.000000	0.03702	0.489000	0.33432	0.040000	0.13905	-1.003000	0.03425	-0.263000	0.10527	ATT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		A	15330512	T	A	15330512	3	1	275	1	0	0	0	0	1	0	0	0	10186	1464	51	5	683	5	NBAS	2	15330512	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08		15330512	227868861	7	15354											
APOB	338	broad.mit.edu	37	2	21230478	21230478	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:21230478G>T	ENST00000233242.1	-	26	9389	c.9262C>A	c.(9262-9264)Caa>Aaa	p.Q3088K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3088					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.Q3088K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACTTACTTGCCAACTTGCT	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											103	104	104					2																	21230478		2203	4300	6503	21083983	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9262C>A	2.37:g.21230478G>T	ENSP00000233242:p.Gln3088Lys		21083983	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	6.440	0.449364	0.12223	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.33654	1.4	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	T	0.39989	0.1099	M	0.74881	2.28	0.80722	D	1	P	0.42827	0.791	B	0.40864	0.342	T	0.29088	-1.0023	10	0.09338	T	0.73	.	16.462	0.84059	0.0:0.1309:0.8691:0.0	.	3088	P04114	APOB_HUMAN	K	3088	ENSP00000233242:Q3088K	ENSP00000233242:Q3088K	Q	-	1	0	APOB	21083983	0.991000	0.36638	1.000000	0.80357	0.897000	0.52465	1.719000	0.38011	2.780000	0.95670	0.655000	0.94253	CAA		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21230478	G	T	21230478	3	4	275	1	0	0	0	0	1	0	0	0	785	1328	46	3	4445	3	APOB	2	21230478	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	5899966	21230478	221968895	8	15355											
CIB4	130106	broad.mit.edu	37	2	26818119	26818119	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:26818119C>T	ENST00000288861.4	-	4	306	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	85	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.V85M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCCAGCACATCCTCAAAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											127	108	114					2																	26818119		2203	4300	6503	26671623	SO:0001583	missense	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.253G>A	2.37:g.26818119C>T	ENSP00000288861:p.Val85Met		26671623	B2RU18	Missense_Mutation	SNP	ENST00000288861.4	37	CCDS33160.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379912	0.61845	.	.	ENSG00000157884	ENST00000288861;ENST00000403670;ENST00000405346	T	0.67345	-0.26	6.08	3.23	0.37069	EF-hand-like domain (1);	0.253386	0.28104	N	0.016600	T	0.50548	0.1622	L	0.29908	0.895	0.31027	N	0.71789	B	0.24618	0.107	B	0.20577	0.03	T	0.55101	-0.8193	10	0.87932	D	0	.	7.3897	0.26903	0.2937:0.6285:0.0:0.0778	.	85	A0PJX0	CIB4_HUMAN	M	85;40;87	ENSP00000288861:V85M	ENSP00000288861:V85M	V	-	1	0	CIB4	26671623	0.939000	0.31865	0.997000	0.53966	0.932000	0.56968	1.089000	0.30890	0.862000	0.35528	0.591000	0.81541	GTG		0.562	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1			T	26818119	C	T	26818119	3	4	275	1	0	0	0	0	1	0	0	0	3423	478	17	2	320	2	CIB4	2	26818119	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	5587641	26818119	216381254	9	15356											
FANCL	55120	broad.mit.edu	37	2	58386928	58386928	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:58386928G>A	ENST00000233741.4	-	14	1136	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I	VRK2_ENST00000417641.2_3'UTR|VRK2_ENST00000340157.4_3'UTR|VRK2_ENST00000435505.2_3'UTR|FANCL_ENST00000403295.3_Missense_Mutation_p.T339I|FANCL_ENST00000403676.1_Missense_Mutation_p.T250I|VRK2_ENST00000412104.2_3'UTR|FANCL_ENST00000402135.3_Missense_Mutation_p.T372I	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	367					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T367I(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CATTTTTAAGGTAATTGGCTT	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							1	Substitution - Missense(1)	ovary(1)	2											74	78	77					2																	58386928		2201	4285	6486	58240432	SO:0001583	missense	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"Zinc fingers, PHD-type", "Fanconi anemia, complementation groups"	20748	protein-coding gene	gene with protein product		608111	"PHD finger protein 9"	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.1100C>T	2.37:g.58386928G>A	ENSP00000233741:p.Thr367Ile		58240432	Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600634	0.87055	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676	T;T;T;T	0.68331	-0.32;-0.28;-0.28;-0.32	6.16	6.16	0.99307	.	0.183062	0.56097	D	0.000028	D	0.83626	0.5295	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.999;1.0	D	0.83755	0.0211	10	0.87932	D	0	-6.4328	20.4702	0.99162	0.0:0.0:1.0:0.0	.	339;372;367	B5MC31;Q9NW38-2;Q9NW38	.;.;FANCL_HUMAN	I	339;367;372;250	ENSP00000386097:T339I;ENSP00000233741:T367I;ENSP00000385021:T372I;ENSP00000384046:T250I	ENSP00000233741:T367I	T	-	2	0	FANCL	58240432	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.664000	0.61540	2.937000	0.99478	0.650000	0.86243	ACC		0.284	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		A	58386928	G	A	58386928	3	1	275	1	0	0	0	0	1	0	0	0	5670	1261	44	2	31	2	FANCL	2	58386928	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	31568809	58386928	184812445	10	15357											
PUS10	150962	broad.mit.edu	37	2	61236067	61236067	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:61236067T>G	ENST00000316752.6	-	3	471	c.210A>C	c.(208-210)aaA>aaC	p.K70N	PUS10_ENST00000407787.1_Missense_Mutation_p.K70N	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	70					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.K70N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GCAGTCGAATTTTCTTGGGAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											68	66	67					2																	61236067		2203	4299	6502	61089571	SO:0001583	missense	150962			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.210A>C	2.37:g.61236067T>G	ENSP00000326003:p.Lys70Asn		61089571	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321650	0.60634	.	.	ENSG00000162927	ENST00000316752;ENST00000407787;ENST00000421319	.	.	.	5.58	1.4	0.22301	.	0.112402	0.56097	D	0.000024	T	0.59945	0.2231	M	0.74881	2.28	0.80722	D	1	P	0.46142	0.873	P	0.47346	0.544	T	0.61515	-0.7047	9	0.62326	D	0.03	-20.5222	9.0091	0.36131	0.0:0.2611:0.0:0.7389	.	70	Q3MIT2	PUS10_HUMAN	N	70	.	ENSP00000326003:K70N	K	-	3	2	PUS10	61089571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.303000	0.33470	0.395000	0.25257	0.477000	0.44152	AAA		0.368	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		G	61236067	T	G	61236067	3	3	275	1	0	0	0	0	1	0	0	0	12834	1838	64	5	1443	5	PUS10	2	61236067	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	2849139	61236067	181963306	11	15358											
SCTR	6344	broad.mit.edu	37	2	120231098	120231098	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:120231098C>A	ENST00000019103.5	-	4	603	c.336G>T	c.(334-336)tgG>tgT	p.W112C	AC013275.2_ENST00000413602.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	112					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.W112C(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGTTTCTGACCAGCCATCCT	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											108	94	99					2																	120231098		2203	4300	6503	119947568	SO:0001583	missense	6344				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.336G>T	2.37:g.120231098C>A	ENSP00000019103:p.Trp112Cys		119947568	Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886692	0.72410	.	.	ENSG00000080293	ENST00000019103	D	0.84516	-1.86	4.9	4.9	0.64082	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.53938	D	0.000057	D	0.94706	0.8292	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	.	16.8007	0.85613	0.0:1.0:0.0:0.0	.	112	P47872	SCTR_HUMAN	C	112	ENSP00000019103:W112C	ENSP00000019103:W112C	W	-	3	0	SCTR	119947568	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.046000	0.64226	2.539000	0.85634	0.561000	0.74099	TGG		0.547	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			A	120231098	C	A	120231098	3	1	275	1	0	0	0	0	1	0	0	0	13946	508	18	3	1026	3	SCTR	2	120231098	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	58995031	120231098	122968275	12	15359											
IFIH1	64135	broad.mit.edu	37	2	163144689	163144689	+	Missense_Mutation	SNP	T	T	C	rs35207787		TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:163144689T>C	ENST00000263642.2	-	5	1446	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	351	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.K351E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GATGCTTTTTTCTTCTTGTCT	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											108	107	107					2																	163144689		2203	4300	6503	162852935	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1051A>G	2.37:g.163144689T>C	ENSP00000263642:p.Lys351Glu		162852935	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473416	0.43942	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05513	3.43	5.84	2.22	0.28083	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.286088	0.42964	D	0.000622	T	0.04588	0.0125	L	0.38531	1.155	0.37041	D	0.897144	B	0.23891	0.093	B	0.23574	0.047	T	0.38845	-0.9642	10	0.11794	T	0.64	-9.9286	6.6718	0.23072	0.0:0.1346:0.1303:0.7351	rs35207787	351	Q9BYX4	IFIH1_HUMAN	E	351	ENSP00000263642:K351E	ENSP00000263642:K351E	K	-	1	0	IFIH1	162852935	0.991000	0.36638	0.985000	0.45067	0.985000	0.73830	3.062000	0.49971	0.473000	0.27368	0.528000	0.53228	AAA		0.388	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		C	163144689	T	C	163144689	3	2	275	1	0	0	0	0	1	0	0	0	7520	1792	62	4	2074	4	IFIH1	2	163144689	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	42913591	163144689	80054684	13	15360											
COBLL1	22837	broad.mit.edu	37	2	165550786	165550786	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:165550786G>C	ENST00000392717.2	-	13	3348	c.3344C>G	c.(3343-3345)tCt>tGt	p.S1115C	COBLL1_ENST00000409184.3_Missense_Mutation_p.S1077C|COBLL1_ENST00000375458.2_Missense_Mutation_p.S1039C|COBLL1_ENST00000342193.4_Missense_Mutation_p.S1077C|COBLL1_ENST00000194871.6_Missense_Mutation_p.S1144C			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1115						extracellular vesicular exosome (GO:0070062)		p.S1077C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TACCTTATCAGACACACCAAG	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											104	100	101					2																	165550786		2203	4300	6503	165259032	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3344C>G	2.37:g.165550786G>C	ENSP00000376478:p.Ser1115Cys		165259032	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	G	14.99	2.699589	0.48307	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.63	-11.3	0.00108	.	1.422500	0.04145	N	0.320247	T	0.29556	0.0737	L	0.36672	1.1	0.09310	N	1	P;P;P	0.45348	0.731;0.856;0.824	B;P;P	0.49597	0.412;0.497;0.616	T	0.53143	-0.8480	9	0.56958	D	0.05	4.7065	4.9547	0.14033	0.1818:0.2462:0.4315:0.1404	.	1115;1144;1077	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	C	1039;1077;1077;1115;1144	.	ENSP00000194871:S1144C	S	-	2	0	COBLL1	165259032	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.603000	0.05674	-2.041000	0.00915	-1.105000	0.02106	TCT		0.398	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		C	165550786	G	C	165550786	3	2	275	1	0	0	0	0	1	0	0	0	3654	942	33	3	282	3	COBLL1	2	165550786	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	2406097	165550786	77648587	14	15361											
HNRNPA3	220988	broad.mit.edu	37	2	178082475	178082475	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:178082475G>T	ENST00000392524.2	+	8	1100	c.863G>T	c.(862-864)gGc>gTc	p.G288V	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G288V|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.G266V			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	288	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G288V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						AGTAGAGGGGGCTATGGTGGT	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											183	177	179					2																	178082475		2203	4299	6502	177790721	SO:0001583	missense	220988			AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"RNA binding motif (RRM) containing"	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.863G>T	2.37:g.178082475G>T	ENSP00000376309:p.Gly288Val		177790721	D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	g	18.47	3.629936	0.67015	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.89415	-2.51;-2.51;-2.51	4.42	4.42	0.53409	.	0.156037	0.29348	U	0.012407	D	0.95194	0.8442	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94668	0.7854	10	0.31617	T	0.26	.	17.4329	0.87544	0.0:0.0:1.0:0.0	.	266;288	B4DDB6;P51991	.;ROA3_HUMAN	V	288;266;232;233;288	ENSP00000376309:G288V;ENSP00000408487:G266V;ENSP00000416340:G288V	ENSP00000376309:G288V	G	+	2	0	HNRNPA3	177790721	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	8.497000	0.90488	2.215000	0.71742	0.472000	0.43445	GGC		0.443	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		T	178082475	G	T	178082475	3	4	275	1	0	0	0	0	1	0	0	0	7260	1203	42	3	893	3	HNRNPA3	2	178082475	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	12531689	178082475	65116898	15	15362											
ZNF142	7701	broad.mit.edu	37	2	219509559	219509559	+	Silent	SNP	C	C	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:219509559C>G	ENST00000449707.1	-	8	2101	c.1680G>C	c.(1678-1680)ctG>ctC	p.L560L	ZNF142_ENST00000411696.2_Silent_p.L560L	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L397L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTCATGGCTCAGCACAGCCT	0.582																																					Colon(170;867 1942 8995 15834 18053)											1	Substitution - coding silent(1)	ovary(1)	2											91	104	99					2																	219509559		2200	4299	6499	219217803	SO:0001819	synonymous_variant	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1680G>C	2.37:g.219509559C>G			219217803	Q92510	Silent	SNP	ENST00000449707.1	37	CCDS42817.1																																																																																				0.582	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		G	219509559	C	G	219509559	2	3	275	1	0	0	0	0	0	0	0	1	17731	813	29	3		3	ZNF142	2	219509559	Silent	SNP	C	TCGA-24-2267-01A-01W-0799-08	41427084	219509559	23689814	16	15363											
UGT1A3	54659	broad.mit.edu	37	2	234638614	234638614	+	Missense_Mutation	SNP	G	G	C	rs201755757		TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr2:234638614G>C	ENST00000482026.1	+	1	861	c.842G>C	c.(841-843)tGt>tCt	p.C281S	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.C281S			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	281					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.C281S(1)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GGCATCAACTGTGCCAACAGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											88	94	92					2																	234638614		2203	4300	6503	234303353	SO:0001583	missense	54659			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.842G>C	2.37:g.234638614G>C	ENSP00000418532:p.Cys281Ser		234303353	B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	g	16.84	3.232730	0.58777	.	.	ENSG00000243135	ENST00000482026	T	0.62498	0.02	4.0	3.11	0.35812	.	.	.	.	.	T	0.81375	0.4809	M	0.91920	3.255	0.43271	D	0.995227	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83602	0.0129	9	0.87932	D	0	.	11.3574	0.49623	0.0912:0.0:0.9088:0.0	.	281;281	Q5DT01;P35503	.;UD13_HUMAN	S	281	ENSP00000418532:C281S	ENSP00000418532:C281S	C	+	2	0	UGT1A3	234303353	1.000000	0.71417	0.994000	0.49952	0.894000	0.52154	5.583000	0.67484	0.666000	0.31087	0.454000	0.30748	TGT		0.438	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		C	234638614	G	C	234638614	3	2	275	1	0	0	0	0	1	0	0	0	16946	1377	48	3	844	3	UGT1A3	2	234638614	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	15129055	234638614	8560759	17	15364											
MITF	4286	broad.mit.edu	37	3	70014107	70014107	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr3:70014107A>C	ENST00000448226.2	+	10	1416	c.1289A>C	c.(1288-1290)aAc>aCc	p.N430T	MITF_ENST00000328528.6_Missense_Mutation_p.N423T|MITF_ENST00000314589.5_Missense_Mutation_p.N408T|MITF_ENST00000352241.4_Missense_Mutation_p.N424T|MITF_ENST00000394351.3_Missense_Mutation_p.N323T|MITF_ENST00000314557.6_Missense_Mutation_p.N317T|MITF_ENST00000394355.2_Missense_Mutation_p.N399T|MITF_ENST00000472437.1_Missense_Mutation_p.N372T|MITF_ENST00000531774.1_Missense_Mutation_p.N261T			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	430	DNA binding regulation.				bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.N323T(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GTTCTTGAGAACTGCAGCCAA	0.502			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	1	Substitution - Missense(1)	ovary(1)	3											156	131	140					3																	70014107		2203	4300	6503	70096797	SO:0001583	missense	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1289A>C	3.37:g.70014107A>C	ENSP00000391803:p.Asn430Thr		70096797	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	A	16.49	3.137860	0.56936	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	6.17	6.17	0.99709	.	0.079220	0.85682	D	0.000000	T	0.54870	0.1885	L	0.50333	1.59	0.45464	D	0.998436	B;B;B;B;B;B;B	0.21688	0.027;0.022;0.022;0.059;0.059;0.014;0.022	B;B;B;B;B;B;B	0.22386	0.038;0.022;0.022;0.039;0.039;0.039;0.022	T	0.50874	-0.8776	9	.	.	.	.	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	372;323;317;399;408;423;424	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	T	424;430;372;423;408;399;317;323;261	ENSP00000295600:N424T;ENSP00000391803:N430T;ENSP00000418845:N372T;ENSP00000327867:N423T;ENSP00000324443:N408T;ENSP00000377884:N399T;ENSP00000324246:N317T;ENSP00000377880:N323T;ENSP00000435909:N261T	.	N	+	2	0	MITF	70096797	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.452000	0.66638	2.371000	0.80710	0.533000	0.62120	AAC		0.502	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		C	70014107	A	C	70014107	3	2	275	1	0	0	0	0	1	0	0	0	9596	43	2	5	1548	5	MITF	3	70014107	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08		70014107	128008323	18	15365											
C3orf37	56941	broad.mit.edu	37	3	129023640	129023640	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr3:129023640C>G	ENST00000383463.4	+	7	1126	c.1037C>G	c.(1036-1038)cCt>cGt	p.P346R	HMCES_ENST00000389735.3_Missense_Mutation_p.P346R|HMCES_ENST00000417226.2_Missense_Mutation_p.P304R|HMCES_ENST00000502878.2_Missense_Mutation_p.P346R	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	346							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.P346R(1)									GAGGAGGAACCTGTGGCCAAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											57	50	52					3																	129023640		2203	4300	6503	130506330	SO:0001583	missense	56941			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.1037C>G	3.37:g.129023640C>G	ENSP00000372955:p.Pro346Arg		130506330	A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486765	0.63962	.	.	ENSG00000183624	ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	4.44	4.44	0.53790	.	0.871673	0.09801	N	0.754101	T	0.65585	0.2705	M	0.67953	2.075	0.28996	N	0.887776	D;D	0.76494	0.999;0.999	D;D	0.65233	0.933;0.933	T	0.57225	-0.7848	8	.	.	.	-4.4418	12.9413	0.58345	0.0:1.0:0.0:0.0	.	304;346	E7EMP6;Q96FZ2	.;CC037_HUMAN	R	346;304;346;346	.	.	P	+	2	0	C3orf37	130506330	0.972000	0.33761	0.696000	0.30242	0.948000	0.59901	3.984000	0.56923	2.187000	0.69744	0.591000	0.81541	CCT		0.537	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		G	129023640	C	G	129023640	3	3	275	1	0	0	0	0	1	0	0	0	2227	681	24	3	1059	3	C3orf37	3	129023640	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	59009533	129023640	68998790	19	15366											
CHST2	9435	broad.mit.edu	37	3	142840830	142840830	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr3:142840830C>T	ENST00000309575.3	+	2	2556	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	391					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.A391V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GACTACCACGCTCTGGGCGCT	0.667																																																1	Substitution - Missense(1)	ovary(1)	3											45	53	50					3																	142840830		2203	4300	6503	144323520	SO:0001583	missense	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.1172C>T	3.37:g.142840830C>T	ENSP00000307911:p.Ala391Val		144323520	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.714343	0.68730	.	.	ENSG00000175040	ENST00000309575	D	0.82433	-1.61	4.47	4.47	0.54385	Sulfotransferase domain (1);	0.236707	0.35320	N	0.003291	T	0.80171	0.4574	N	0.08118	0	0.58432	D	0.999997	D	0.61697	0.99	P	0.60949	0.881	T	0.81180	-0.1050	10	0.30854	T	0.27	-1.1166	17.3237	0.87242	0.0:1.0:0.0:0.0	.	391	Q9Y4C5	CHST2_HUMAN	V	391	ENSP00000307911:A391V	ENSP00000307911:A391V	A	+	2	0	CHST2	144323520	1.000000	0.71417	0.612000	0.29024	0.844000	0.47949	5.916000	0.69981	2.322000	0.78497	0.407000	0.27541	GCT		0.667	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		T	142840830	C	T	142840830	3	4	275	1	0	0	0	0	1	0	0	0	3404	797	28	2	1174	2	CHST2	3	142840830	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	13817190	142840830	55181600	20	15367											
VPS8	23355	broad.mit.edu	37	3	184585842	184585842	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr3:184585842A>G	ENST00000437079.3	+	18	1672	c.1501A>G	c.(1501-1503)Aga>Gga	p.R501G	VPS8_ENST00000436792.2_Missense_Mutation_p.R499G|VPS8_ENST00000446204.2_Missense_Mutation_p.R499G|VPS8_ENST00000287546.4_Missense_Mutation_p.R501G	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	501							zinc ion binding (GO:0008270)	p.R501G(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAGGAGCTGGAGAGAGGTGAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	3											189	186	187					3																	184585842		1927	4141	6068	186068536	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1501A>G	3.37:g.184585842A>G	ENSP00000397879:p.Arg501Gly		186068536	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	a	14.64	2.597037	0.46318	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.07	5.07	0.68467	.	0.098569	0.64402	D	0.000003	T	0.28699	0.0711	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.56035	0.969;0.974	P;P	0.50659	0.554;0.647	T	0.02567	-1.1140	10	0.27082	T	0.32	-17.2356	10.9422	0.47281	0.8433:0.1567:0.0:0.0	.	499;499	Q8N3P4-2;Q8N3P4-3	.;.	G	501;501;499;499	ENSP00000287546:R501G;ENSP00000397879:R501G;ENSP00000404704:R499G;ENSP00000405483:R499G	ENSP00000287546:R501G	R	+	1	2	VPS8	186068536	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.460000	0.53028	1.910000	0.55303	0.456000	0.33151	AGA		0.368	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		G	184585842	A	G	184585842	3	3	275	1	0	0	0	0	1	0	0	0	17218	296	11	4	1563	4	VPS8	3	184585842	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	41745012	184585842	13436588	21	15368											
KIT	3815	broad.mit.edu	37	4	55604673	55604673	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr4:55604673G>A	ENST00000288135.5	+	21	2978	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	961					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G961S(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAATTCTGTCGGCAGCACCGC	0.527		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	1	Substitution - Missense(1)	ovary(1)	4											127	123	124					4																	55604673		2203	4300	6503	55299430	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2881G>A	4.37:g.55604673G>A	ENSP00000288135:p.Gly961Ser		55299430	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834834	0.71373	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.76578	-1.03;-1.03	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000009	D	0.87237	0.6127	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.944;1.0	D	0.85232	0.1033	10	0.34782	T	0.22	.	17.6745	0.88226	0.0:0.0:1.0:0.0	.	957;961	P10721-2;P10721	.;KIT_HUMAN	S	961;957	ENSP00000288135:G961S;ENSP00000390987:G957S	ENSP00000288135:G961S	G	+	1	0	KIT	55299430	1.000000	0.71417	0.964000	0.40570	0.261000	0.26267	5.963000	0.70372	2.706000	0.92434	0.561000	0.74099	GGC		0.527	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55604673	G	A	55604673	3	1	275	1	0	0	0	0	1	0	0	0	8329	1116	39	1	2963	1	KIT	4	55604673	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08		55604673	135549603	22	15369											
GK2	2712	broad.mit.edu	37	4	80328507	80328507	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr4:80328507C>A	ENST00000358842.3	-	1	865	c.848G>T	c.(847-849)tGc>tTc	p.C283F		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.C283F(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CAGTAAGAAGCAACCTGTTCC	0.453																																																1	Substitution - Missense(1)	ovary(1)	4											128	109	116					4																	80328507		2203	4300	6503	80547531	SO:0001583	missense	2712			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.848G>T	4.37:g.80328507C>A	ENSP00000351706:p.Cys283Phe		80547531	Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799511	0.31869	.	.	ENSG00000196475	ENST00000358842	D	0.86164	-2.08	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, C-terminal (1);	0.099735	0.64402	D	0.000001	D	0.95332	0.8485	H	0.98089	4.145	0.58432	D	0.999994	D	0.55605	0.972	D	0.67900	0.954	D	0.95883	0.8900	10	0.87932	D	0	-18.2298	11.7305	0.51735	0.0:1.0:0.0:0.0	.	283	Q14410	GLPK2_HUMAN	F	283	ENSP00000351706:C283F	ENSP00000351706:C283F	C	-	2	0	GK2	80547531	0.993000	0.37304	0.991000	0.47740	0.466000	0.32739	3.387000	0.52501	2.496000	0.84212	0.585000	0.79938	TGC		0.453	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		A	80328507	C	A	80328507	3	1	275	1	0	0	0	0	1	0	0	0	6421	710	25	3	817	3	GK2	4	80328507	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	24723834	80328507	110825769	23	15370											
TNFAIP8	25816	broad.mit.edu	37	5	118728778	118728778	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr5:118728778A>C	ENST00000503646.1	+	3	987	c.299A>C	c.(298-300)gAg>gCg	p.E100A	TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.E100A|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.E102A|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.E112A|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.E90A			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	100					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)	p.E100A(1)		ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		GCATTGATGGAGAAATTTAAG	0.398																																																1	Substitution - Missense(1)	ovary(1)	5											78	77	77					5																	118728778		1902	4139	6041	118756677	SO:0001583	missense	25816			AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.299A>C	5.37:g.118728778A>C	ENSP00000421848:p.Glu100Ala		118756677	B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.576087	0.86645	.	.	ENSG00000145779	ENST00000274456;ENST00000388882;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.49098	0.1537	L	0.49126	1.545	0.80722	D	1	P;P;P	0.50528	0.858;0.936;0.932	P;P;P	0.56434	0.528;0.798;0.655	T	0.36792	-0.9733	10	0.36615	T	0.2	-20.8707	15.8076	0.78527	1.0:0.0:0.0:0.0	.	112;100;90	B7Z713;O95379;O95379-3	.;TFIP8_HUMAN;.	A	90;68;112;100;100;102	ENSP00000274456:E90A;ENSP00000429432:E68A;ENSP00000427424:E112A;ENSP00000422245:E100A;ENSP00000421848:E100A;ENSP00000427160:E102A	ENSP00000274456:E90A	E	+	2	0	TNFAIP8	118756677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.219000	0.72066	0.533000	0.62120	GAG		0.398	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		C	118728778	A	C	118728778	3	2	275	1	0	0	0	0	1	0	0	0	16276	304	11	5	310	5	TNFAIP8	5	118728778	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08		118728778	62186482	24	15371											
C5orf48	389320	broad.mit.edu	37	5	125971835	125971835	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr5:125971835C>G	ENST00000357147.3	+	3	320	c.307C>G	c.(307-309)Cca>Gca	p.P103A		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		103								p.P103A(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CCAAAAAGGCCCACCAGAAAT	0.453																																																1	Substitution - Missense(1)	ovary(1)	5											119	123	121					5																	125971835		2203	4300	6503	125999734	SO:0001583	missense	389320																														ENST00000357147.3:c.307C>G	5.37:g.125971835C>G	ENSP00000349669:p.Pro103Ala		125999734		Missense_Mutation	SNP	ENST00000357147.3	37	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	0.425	-0.906092	0.02453	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.29	3.42	0.39159	.	0.529477	0.17531	N	0.170887	T	0.23014	0.0556	N	0.24115	0.695	0.09310	N	1	B	0.32101	0.356	B	0.33454	0.164	T	0.12243	-1.0555	9	0.37606	T	0.19	-1.8201	7.3777	0.26837	0.0:0.7353:0.1703:0.0945	.	103	Q6ZNM6	CE048_HUMAN	A	103	.	ENSP00000349669:P103A	P	+	1	0	C5orf48	125999734	0.000000	0.05858	0.200000	0.23457	0.015000	0.08874	0.669000	0.25142	1.142000	0.42291	0.462000	0.41574	CCA		0.453	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			G	125971835	C	G	125971835	3	3	275	1	0	0	0	0	1	0	0	0	2306	623	22	3	317	3	C5orf48	5	125971835	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	7243057	125971835	54943425	25	15372											
PCDHB2	56133	broad.mit.edu	37	5	140476407	140476407	+	Missense_Mutation	SNP	C	C	T	rs201070541		TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr5:140476407C>T	ENST00000194155.4	+	1	2181	c.2033C>T	c.(2032-2034)gCg>gTg	p.A678V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	678					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A678E(1)|p.A678V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGGAGGCGGCACCGGCC	0.682																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	5											64	66	66					5																	140476407		2182	4247	6429	140456591	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2033C>T	5.37:g.140476407C>T	ENSP00000194155:p.Ala678Val		140456591	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	5.135	0.210478	0.09757	.	.	ENSG00000112852	ENST00000194155	T	0.50277	0.75	3.99	-1.85	0.07784	.	.	.	.	.	T	0.24851	0.0603	L	0.37897	1.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31308	-0.9948	9	0.02654	T	1	.	1.5061	0.02486	0.1377:0.3305:0.1357:0.3961	.	678	Q9Y5E7	PCDB2_HUMAN	V	678	ENSP00000194155:A678V	ENSP00000194155:A678V	A	+	2	0	PCDHB2	140456591	0.000000	0.05858	0.007000	0.13788	0.495000	0.33615	-1.445000	0.02401	-0.399000	0.07668	0.456000	0.33151	GCG		0.682	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		T	140476407	C	T	140476407	3	4	275	1	0	0	0	0	1	0	0	0	11542	768	27	1	2035	1	PCDHB2	5	140476407	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	14504572	140476407	40438853	26	15373											
PCDHB7	56129	broad.mit.edu	37	5	140553318	140553318	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr5:140553318T>C	ENST00000231137.3	+	1	1076	c.902T>C	c.(901-903)cTt>cCt	p.L301P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L301P(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGCAGTCTTCATCTTAAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	5											81	87	85					5																	140553318		2203	4300	6503	140533502	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.902T>C	5.37:g.140553318T>C	ENSP00000231137:p.Leu301Pro		140533502	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502098	0.26949	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.68181	-0.31	4.61	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81240	0.4781	M	0.80982	2.52	0.31252	N	0.69393	D	0.60160	0.987	D	0.65573	0.936	T	0.83210	-0.0074	9	0.87932	D	0	.	13.9717	0.64245	0.0:0.0:0.0:1.0	.	301	Q9Y5E2	PCDB7_HUMAN	P	301;84	ENSP00000231137:L301P	ENSP00000231137:L301P	L	+	2	0	PCDHB7	140533502	0.970000	0.33590	0.004000	0.12327	0.001000	0.01503	7.657000	0.83745	1.823000	0.53134	0.533000	0.62120	CTT		0.413	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		C	140553318	T	C	140553318	3	2	275	1	0	0	0	0	1	0	0	0	11547	1609	56	4	904	4	PCDHB7	5	140553318	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	76911	140553318	40361942	27	15374											
ZNF318	24149	broad.mit.edu	37	6	43306905	43306905	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr6:43306905C>T	ENST00000361428.2	-	10	4908	c.4831G>A	c.(4831-4833)Gac>Aac	p.D1611N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1611					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D1611N(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAAGAGGTGTCTGAACTTTTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	6											123	127	125					6																	43306905		2203	4300	6503	43414883	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4831G>A	6.37:g.43306905C>T	ENSP00000354964:p.Asp1611Asn		43414883	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391139	0.25118	.	.	ENSG00000171467	ENST00000361428	T	0.15603	2.41	5.82	2.77	0.32553	.	0.306075	0.30126	N	0.010353	T	0.04907	0.0132	L	0.34521	1.04	0.80722	D	1	B	0.17268	0.021	B	0.14578	0.011	T	0.15578	-1.0432	10	0.72032	D	0.01	-3.348	6.8364	0.23939	0.1379:0.7071:0.0:0.155	.	1611	Q5VUA4	ZN318_HUMAN	N	1611	ENSP00000354964:D1611N	ENSP00000354964:D1611N	D	-	1	0	ZNF318	43414883	0.991000	0.36638	0.832000	0.32986	0.742000	0.42306	0.384000	0.20668	0.258000	0.21686	0.563000	0.77884	GAC		0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43306905	C	T	43306905	3	4	275	1	0	0	0	0	1	0	0	0	17836	913	32	2	2012	2	ZNF318	6	43306905	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08		43306905	127808162	28	15375											
GSTA2	2939	broad.mit.edu	37	6	52621092	52621092	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr6:52621092T>A	ENST00000493422.1	-	3	258	c.103A>T	c.(103-105)Ata>Tta	p.I35L		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	35	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.I35L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GCAGATTTTATAAATTTCTCT	0.363																																																1	Substitution - Missense(1)	ovary(1)	6											67	66	66					6																	52621092		2201	4299	6500	52729051	SO:0001583	missense	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.103A>T	6.37:g.52621092T>A	ENSP00000420168:p.Ile35Leu		52729051	Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	N	0.019	-1.449926	0.01080	.	.	ENSG00000244067	ENST00000493422	T	0.05925	3.37	3.43	-5.68	0.02436	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.650662	0.15581	N	0.254947	T	0.00524	0.0017	N	0.11023	0.085	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.44467	-0.9326	10	0.02654	T	1	.	3.4468	0.07483	0.1222:0.1942:0.4885:0.1951	.	35	P09210	GSTA2_HUMAN	L	35	ENSP00000420168:I35L	ENSP00000420168:I35L	I	-	1	0	GSTA2	52729051	0.000000	0.05858	0.028000	0.17463	0.029000	0.11900	-1.406000	0.02490	-0.462000	0.06984	-1.667000	0.00748	ATA		0.363	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		A	52621092	T	A	52621092	3	1	275	1	0	0	0	0	1	0	0	0	6831	1406	49	5	585	5	GSTA2	6	52621092	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	9314187	52621092	118493975	29	15376											
GARS	2617	broad.mit.edu	37	7	30655605	30655605	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr7:30655605G>T	ENST00000389266.3	+	9	1366	c.1125G>T	c.(1123-1125)ttG>ttT	p.L375F		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	375					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.L375F(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	ACCTTTATTTGTATTCAGCAA	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											85	87	86					7																	30655605		1922	4138	6060	30622130	SO:0001583	missense	2617			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1125G>T	7.37:g.30655605G>T	ENSP00000373918:p.Leu375Phe		30622130	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343487	0.61073	.	.	ENSG00000106105	ENST00000389266	D	0.85411	-1.98	5.46	4.58	0.56647	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	L	0.39692	1.235	0.80722	D	1	P	0.41643	0.758	P	0.50659	0.647	T	0.81722	-0.0803	10	0.41790	T	0.15	-13.3061	8.028	0.30448	0.0851:0.1602:0.7547:0.0	.	375	P41250	SYG_HUMAN	F	375	ENSP00000373918:L375F	ENSP00000373918:L375F	L	+	3	2	GARS	30622130	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.721000	0.38032	1.449000	0.47699	0.655000	0.94253	TTG		0.463	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		T	30655605	G	T	30655605	3	4	275	1	0	0	0	0	1	0	0	0	6242	1368	48	3	1159	3	GARS	7	30655605	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08		30655605	128483058	30	15377											
PPP1R9A	55607	broad.mit.edu	37	7	94827712	94827712	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr7:94827712G>C	ENST00000433881.1	+	6	2338	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L602F|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L602F|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.L602F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L602F|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L602F			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	602	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.L602F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGCCCAGTTGATAAGCCAGA	0.483										HNSCC(28;0.073)																																						1	Substitution - Missense(1)	ovary(1)	7											115	113	114					7																	94827712		2203	4300	6503	94665648	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1806G>C	7.37:g.94827712G>C	ENSP00000398870:p.Leu602Phe		94665648	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630909	0.67015	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.24908	1.89;1.87;1.83;1.87;1.87;1.83	5.61	4.71	0.59529	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.995;0.998	T	0.56384	-0.7988	10	0.87932	D	0	.	16.7706	0.85536	0.0:0.1291:0.8709:0.0	.	602;602;602;602;602	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	F	602	ENSP00000405514:L602F;ENSP00000344524:L602F;ENSP00000411342:L602F;ENSP00000398870:L602F;ENSP00000289495:L602F;ENSP00000402893:L602F	ENSP00000289495:L602F	L	+	3	2	PPP1R9A	94665648	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.717000	0.47227	1.477000	0.48234	0.591000	0.81541	TTG		0.483	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		C	94827712	G	C	94827712	3	2	275	1	0	0	0	0	1	0	0	0	12381	1281	45	3	1824	3	PPP1R9A	7	94827712	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	64172107	94827712	64310951	31	15378											
ZNF655	79027	broad.mit.edu	37	7	99170957	99170957	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr7:99170957A>G	ENST00000394163.2	+	3	1409	c.1226A>G	c.(1225-1227)gAa>gGa	p.E409G	ZNF655_ENST00000424881.1_Missense_Mutation_p.E444G|ZNF655_ENST00000493277.1_Missense_Mutation_p.E444G|ZNF655_ENST00000252713.4_Missense_Mutation_p.E409G|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	409					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E409G(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAAGCACATGAATGTAATGAA	0.363																																																1	Substitution - Missense(1)	ovary(1)	7											80	79	80					7																	99170957		2203	4300	6503	99008893	SO:0001583	missense	79027			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1226A>G	7.37:g.99170957A>G	ENSP00000377718:p.Glu409Gly		99008893	A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	A	7.692	0.691340	0.15039	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.74	4.74	0.60224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.176955	0.27469	N	0.019226	T	0.24392	0.0591	L	0.52759	1.655	0.18873	N	0.999981	P;D	0.53312	0.949;0.959	B;P	0.47603	0.415;0.551	T	0.14035	-1.0487	10	0.59425	D	0.04	-8.2794	9.0998	0.36662	0.8152:0.1847:0.0:0.0	.	444;409	Q8N720-3;Q8N720	.;ZN655_HUMAN	G	409;444;444;409	ENSP00000252713:E409G;ENSP00000419135:E444G;ENSP00000393876:E444G;ENSP00000377718:E409G	ENSP00000252713:E409G	E	+	2	0	ZNF655	99008893	0.000000	0.05858	0.952000	0.39060	0.057000	0.15508	0.226000	0.17776	2.065000	0.61736	0.528000	0.53228	GAA		0.363	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		G	99170957	A	G	99170957	3	3	275	1	0	0	0	0	1	0	0	0	18068	246	9	4	1763	4	ZNF655	7	99170957	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	4343245	99170957	59967706	32	15379											
RINT1	60561	broad.mit.edu	37	7	105187420	105187420	+	Silent	SNP	T	T	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr7:105187420T>G	ENST00000257700.2	+	5	810	c.579T>G	c.(577-579)tcT>tcG	p.S193S		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	193					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.S193S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTCTAGTGTCTATGGCAGAAC	0.363																																																1	Substitution - coding silent(1)	ovary(1)	7											116	99	105					7																	105187420		2203	4300	6503	104974656	SO:0001819	synonymous_variant	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.579T>G	7.37:g.105187420T>G			104974656	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Silent	SNP	ENST00000257700.2	37	CCDS34726.1																																																																																				0.363	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		G	105187420	T	G	105187420	2	3	275	1	0	0	0	0	0	0	0	1	13379	1509	53	5		5	RINT1	7	105187420	Silent	SNP	T	TCGA-24-2267-01A-01W-0799-08	6016463	105187420	53951243	33	15380											
NDUFB2	4708	broad.mit.edu	37	7	140404711	140404711	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr7:140404711A>G	ENST00000476279.1	+	3	369	c.295A>G	c.(295-297)Atc>Gtc	p.I99V	NDUFB2_ENST00000475276.1_Missense_Mutation_p.I72V|NDUFB2_ENST00000471136.1_Missense_Mutation_p.I87V|NDUFB2_ENST00000247866.4_Missense_Mutation_p.I99V|NDUFB2_ENST00000472695.1_Missense_Mutation_p.I35V|NDUFB2_ENST00000482954.1_Missense_Mutation_p.I35V|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000204307.5_Missense_Mutation_p.I89V|NDUFB2_ENST00000460088.1_Missense_Mutation_p.I35V|NDUFB2_ENST00000476470.1_Missense_Mutation_p.I35V|NDUFB2_ENST00000465506.1_Missense_Mutation_p.I99V			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	99					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.I99V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					AGAATTAGGTATCCCTCCTGA	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											120	117	118					7																	140404711		2203	4300	6503	140051180	SO:0001583	missense	4708			AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"Mitochondrial respiratory chain complex / Complex I"	7697	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase AGGG subunit", "complex I AGGG subunit"	603838	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.295A>G	7.37:g.140404711A>G	ENSP00000419087:p.Ile99Val		140051180	Q6FGI6	Missense_Mutation	SNP	ENST00000476279.1	37	CCDS5862.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399697	0.42512	.	.	ENSG00000090266	ENST00000482954;ENST00000476279;ENST00000247866;ENST00000465506;ENST00000204307;ENST00000464566;ENST00000460088;ENST00000472695;ENST00000476470;ENST00000471136;ENST00000475276	.	.	.	5.8	4.62	0.57501	.	0.093036	0.64402	N	0.000001	T	0.57858	0.2082	M	0.72118	2.19	0.47123	D	0.999326	B	0.19583	0.037	B	0.19148	0.024	T	0.55515	-0.8129	9	0.45353	T	0.12	-12.2059	7.2721	0.26262	0.7799:0.1448:0.0753:0.0	.	99	O95178	NDUB2_HUMAN	V	35;99;99;99;89;98;35;35;35;87;72	.	ENSP00000204307:I89V	I	+	1	0	NDUFB2	140051180	1.000000	0.71417	0.387000	0.26183	0.950000	0.60333	5.063000	0.64332	0.978000	0.38470	0.533000	0.62120	ATC		0.393	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348784.1	NM_004546		G	140404711	A	G	140404711	3	3	275	1	0	0	0	0	1	0	0	0	10281	449	16	4	305	4	NDUFB2	7	140404711	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	35217291	140404711	18733952	34	15381											
OR2F2	135948	broad.mit.edu	37	7	143632419	143632419	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr7:143632419T>A	ENST00000408955.2	+	1	161	c.94T>A	c.(94-96)Ttg>Atg	p.L32M		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L32M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTCCCTGTTCTTGGTCACATA	0.448																																																1	Substitution - Missense(1)	ovary(1)	7											194	189	191					7																	143632419		2203	4300	6503	143263352	SO:0001583	missense	135948				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.94T>A	7.37:g.143632419T>A	ENSP00000386222:p.Leu32Met		143263352	A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.495558	0.44352	.	.	ENSG00000221910	ENST00000408955	T	0.01902	4.57	3.26	0.795	0.18643	.	0.617739	0.13493	N	0.383824	T	0.09905	0.0243	M	0.91717	3.235	0.28172	N	0.928523	D	0.59767	0.986	P	0.57204	0.815	T	0.05852	-1.0860	10	0.87932	D	0	-1.3192	5.1199	0.14854	0.0:0.3906:0.0:0.6094	.	32	O95006	OR2F2_HUMAN	M	32	ENSP00000386222:L32M	ENSP00000386222:L32M	L	+	1	2	OR2F2	143263352	0.000000	0.05858	0.808000	0.32385	0.532000	0.34746	0.104000	0.15313	0.409000	0.25649	0.402000	0.26972	TTG		0.448	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			A	143632419	T	A	143632419	3	1	275	1	0	0	0	0	1	0	0	0	10997	1606	56	5	96	5	OR2F2	7	143632419	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	3227708	143632419	15506244	35	15382											
PAXIP1	22976	broad.mit.edu	37	7	154760786	154760786	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr7:154760786A>C	ENST00000404141.1	-	7	1279	c.1125T>G	c.(1123-1125)aaT>aaG	p.N375K	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.N375K			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	375					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.N341K(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GCTGGCTGTGATTCACCTGCT	0.443																																																1	Substitution - Missense(1)	ovary(1)	7											54	51	52					7																	154760786		2107	4222	6329	154391719	SO:0001583	missense	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1125T>G	7.37:g.154760786A>C	ENSP00000384048:p.Asn375Lys		154391719	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.003451	0.54254	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.39997	1.05;1.05	5.37	-8.16	0.01061	.	0.609454	0.14708	U	0.303136	T	0.33294	0.0858	L	0.29908	0.895	0.20403	N	0.999902	B;P;P;D	0.56035	0.361;0.763;0.634;0.974	B;B;B;P	0.49752	0.058;0.311;0.167;0.621	T	0.49634	-0.8919	10	0.48119	T	0.1	-9.6031	14.6351	0.68682	0.2431:0.0:0.6543:0.1026	.	328;284;341;375	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	K	375;375;323;328	ENSP00000384048:N375K;ENSP00000380376:N375K	ENSP00000319149:N328K	N	-	3	2	PAXIP1	154391719	0.753000	0.28349	0.126000	0.21872	0.955000	0.61496	-0.126000	0.10563	-1.800000	0.01247	0.528000	0.53228	AAT		0.443	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		C	154760786	A	C	154760786	3	2	275	1	0	0	0	0	1	0	0	0	11487	330	12	5	2144	5	PAXIP1	7	154760786	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	11128367	154760786	4377877	36	15383											
SNAI2	6591	broad.mit.edu	37	8	49832680	49832680	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr8:49832680T>C	ENST00000396822.1	-	3	757	c.400A>G	c.(400-402)Aat>Gat	p.N134D	SNAI2_ENST00000020945.1_Missense_Mutation_p.N134D			O43623	SNAI2_HUMAN	snail family zinc finger 2	134					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.N134D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TAGGTCTTATTGCATAAATTG	0.438																																																1	Substitution - Missense(1)	ovary(1)	8											128	128	128					8																	49832680		2203	4300	6503	49995233	SO:0001583	missense	6591			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.400A>G	8.37:g.49832680T>C	ENSP00000380034:p.Asn134Asp		49995233	B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.355742	0.24598	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.29655	1.56;1.56	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.120387	0.85682	D	0.000000	T	0.20292	0.0488	N	0.08118	0	0.48975	D	0.999737	B	0.22851	0.076	B	0.29440	0.102	T	0.07712	-1.0758	10	0.49607	T	0.09	-8.0304	15.0148	0.71576	0.0:0.0:0.0:1.0	.	134	O43623	SNAI2_HUMAN	D	134	ENSP00000020945:N134D;ENSP00000380034:N134D	ENSP00000020945:N134D	N	-	1	0	SNAI2	49995233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.681000	0.61663	1.950000	0.56595	0.459000	0.35465	AAT		0.438	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		C	49832680	T	C	49832680	3	2	275	1	0	0	0	0	1	0	0	0	14830	1812	63	4	414	4	SNAI2	8	49832680	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08		49832680	96531342	37	15384											
IMPAD1	54928	broad.mit.edu	37	8	57878752	57878752	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr8:57878752G>C	ENST00000262644.4	-	4	1064	c.806C>G	c.(805-807)gCt>gGt	p.A269G		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	269					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)	p.A269G(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GAACATACCAGCACCACCAGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	8											134	109	118					8																	57878752		2203	4300	6503	58041306	SO:0001583	missense	54928				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.806C>G	8.37:g.57878752G>C	ENSP00000262644:p.Ala269Gly		58041306	Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330993	0.95733	.	.	ENSG00000104331	ENST00000262644	T	0.55052	0.54	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84336	0.0524	10	0.87932	D	0	-14.2858	19.0349	0.92972	0.0:0.0:1.0:0.0	.	269	Q9NX62	IMPA3_HUMAN	G	269	ENSP00000262644:A269G	ENSP00000262644:A269G	A	-	2	0	IMPAD1	58041306	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.336000	0.96533	2.749000	0.94314	0.655000	0.94253	GCT		0.493	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		C	57878752	G	C	57878752	3	2	275	1	0	0	0	0	1	0	0	0	7725	971	34	3	281	3	IMPAD1	8	57878752	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	8046072	57878752	88485270	38	15385											
MPDZ	8777	broad.mit.edu	37	9	13188816	13188816	+	Silent	SNP	C	C	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr9:13188816C>A	ENST00000319217.7	-	17	2578	c.2331G>T	c.(2329-2331)ggG>ggT	p.G777G	MPDZ_ENST00000381015.4_Silent_p.G777G|MPDZ_ENST00000447879.1_Silent_p.G777G|MPDZ_ENST00000546205.1_Silent_p.G777G|MPDZ_ENST00000536827.1_Silent_p.G777G|MPDZ_ENST00000541718.1_Silent_p.G777G|MPDZ_ENST00000381022.2_Silent_p.G777G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	777	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.G777G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCTCACAGTCCCTGACGGTG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	9											254	251	252					9																	13188816		1956	4145	6101	13178816	SO:0001819	synonymous_variant	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2331G>T	9.37:g.13188816C>A			13178816	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																					0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		A	13188816	C	A	13188816	2	1	275	1	0	0	0	0	0	0	0	1	9722	842	30	3		3	MPDZ	9	13188816	Silent	SNP	C	TCGA-24-2267-01A-01W-0799-08		13188816	128024615	39	15386											
ADAMTSL1	92949	broad.mit.edu	37	9	18504910	18504910	+	Silent	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr9:18504910C>T	ENST00000380548.4	+	2	486	c.147C>T	c.(145-147)tgC>tgT	p.C49C	ADAMTSL1_ENST00000276935.6_Silent_p.C49C|ADAMTSL1_ENST00000431052.2_Silent_p.C49C|ADAMTSL1_ENST00000380570.4_Silent_p.C49C|ADAMTSL1_ENST00000380566.4_Silent_p.C49C|ADAMTSL1_ENST00000327883.7_Silent_p.C49C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	49	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C49C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CACGCACCTGCGGGGGTGGGG	0.617																																																2	Substitution - coding silent(2)	ovary(2)	9											43	45	44					9																	18504910		2203	4300	6503	18494910	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.147C>T	9.37:g.18504910C>T			18494910	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	CCDS47954.1																																																																																				0.617	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			T	18504910	C	T	18504910	2	4	275	1	0	0	0	0	0	0	0	1	274	776	27	1		1	ADAMTSL1	9	18504910	Silent	SNP	C	TCGA-24-2267-01A-01W-0799-08	5316094	18504910	122708521	40	15387											
KIAA1797	54914	broad.mit.edu	37	9	20740325	20740325	+	Silent	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr9:20740325T>C	ENST00000380249.1	+	7	742	c.378T>C	c.(376-378)agT>agC	p.S126S	FOCAD_ENST00000338382.6_Silent_p.S126S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	126						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.S126S(1)									ATATTCAGAGTATATATACCA	0.294																																																1	Substitution - coding silent(1)	ovary(1)	9											76	75	75					9																	20740325		2203	4297	6500	20730325	SO:0001819	synonymous_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.378T>C	9.37:g.20740325T>C			20730325	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	CCDS34993.1																																																																																				0.294	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		C	20740325	T	C	20740325	2	2	275	1	0	0	0	0	0	0	0	1	8258	1635	57	4		4	KIAA1797	9	20740325	Silent	SNP	T	TCGA-24-2267-01A-01W-0799-08	2235415	20740325	120473106	41	15388											
IFNA4	3441	broad.mit.edu	37	9	21187176	21187176	+	Silent	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr9:21187176G>A	ENST00000421715.1	-	1	422	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	119					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L119L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CATGCTTCCAGGTCATTCAGT	0.478																																					NSCLC(154;890 1986 23660 27800 51138)											1	Substitution - coding silent(1)	ovary(1)	9											27	29	29					9																	21187176		2163	4261	6424	21177176	SO:0001819	synonymous_variant	3441				CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"Interferons"	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.355C>T	9.37:g.21187176G>A			21177176	P13358|Q14CS4|Q5VV15	Silent	SNP	ENST00000421715.1	37	CCDS6498.1																																																																																				0.478	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		A	21187176	G	A	21187176	2	1	275	1	0	0	0	0	0	0	0	1	7539	991	35	2		2	IFNA4	9	21187176	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08	446851	21187176	120026255	42	15389											
COL15A1	1306	broad.mit.edu	37	9	101829166	101829166	+	Silent	SNP	G	G	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr9:101829166G>T	ENST00000375001.3	+	40	4077	c.3654G>T	c.(3652-3654)ctG>ctT	p.L1218L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1218	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.L1218L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTTTCAGCTGCATTTGGCTG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	9											104	97	100					9																	101829166		2203	4300	6503	100868987	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3654G>T	9.37:g.101829166G>T			100868987	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.488	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		T	101829166	G	T	101829166	2	4	275	1	0	0	0	0	0	0	0	1	3672	1306	46	3		3	COL15A1	9	101829166	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08	80641990	101829166	39384265	43	15390											
RNF20	56254	broad.mit.edu	37	9	104307065	104307065	+	Silent	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr9:104307065G>A	ENST00000389120.3	+	6	735	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	215					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E215E(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGATAGTGGAGGAAGCAGTGC	0.418																																																1	Substitution - coding silent(1)	ovary(1)	9											85	88	87					9																	104307065		2203	4300	6503	103346886	SO:0001819	synonymous_variant	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.645G>A	9.37:g.104307065G>A			103346886	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	CCDS35084.1																																																																																				0.418	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		A	104307065	G	A	104307065	2	1	275	1	0	0	0	0	0	0	0	1	13476	991	35	2		2	RNF20	9	104307065	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08	2477899	104307065	36906366	44	15391											
CEP110	11064	broad.mit.edu	37	9	123877468	123877468	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr9:123877468A>C	ENST00000373855.1	+	11	1705	c.1445A>C	c.(1444-1446)cAa>cCa	p.Q482P	CNTRL_ENST00000238341.5_Missense_Mutation_p.Q482P|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	482					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.Q482P(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAAGCTATACAACTAAAAAAG	0.318																																																1	Substitution - Missense(1)	ovary(1)	9											68	70	69					9																	123877468		2203	4297	6500	122917289	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1445A>C	9.37:g.123877468A>C	ENSP00000362962:p.Gln482Pro		122917289	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339795	0.41398	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.25579	1.79;1.79	5.09	2.49	0.30216	.	.	.	.	.	T	0.22126	0.0533	L	0.51422	1.61	0.27096	N	0.962727	P;P	0.41265	0.744;0.627	B;B	0.38327	0.271;0.099	T	0.13282	-1.0515	9	0.66056	D	0.02	.	6.5895	0.22639	0.6122:0.2979:0.0899:0.0	.	482;482	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	P	482	ENSP00000362962:Q482P;ENSP00000238341:Q482P	ENSP00000238341:Q482P	Q	+	2	0	CNTRL	122917289	0.970000	0.33590	0.999000	0.59377	0.996000	0.88848	1.329000	0.33770	0.853000	0.35312	0.533000	0.62120	CAA		0.318	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		C	123877468	A	C	123877468	3	2	275	1	0	0	0	0	1	0	0	0	3245	130	5	5	1479	5	CEP110	9	123877468	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	19570403	123877468	17335963	45	15392											
CUL2	8453	broad.mit.edu	37	10	35349820	35349820	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr10:35349820T>C	ENST00000374748.1	-	5	612	c.299A>G	c.(298-300)tAt>tGt	p.Y100C	CUL2_ENST00000374751.3_Missense_Mutation_p.Y100C|CUL2_ENST00000374749.3_Missense_Mutation_p.Y100C|CUL2_ENST00000374746.1_Missense_Mutation_p.Y100C|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000602371.1_Missense_Mutation_p.Y43C|CUL2_ENST00000374742.1_Missense_Mutation_p.Y100C|CUL2_ENST00000537177.1_Missense_Mutation_p.Y119C			Q13617	CUL2_HUMAN	cullin 2	100					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.Y100C(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GCAGTCCATATAGTCTGCACC	0.363																																																1	Substitution - Missense(1)	ovary(1)	10											150	132	138					10																	35349820		2203	4300	6503	35389826	SO:0001583	missense	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.299A>G	10.37:g.35349820T>C	ENSP00000363880:p.Tyr100Cys		35389826	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369232	0.82463	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	5.98	5.98	0.97165	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.64997	1.995	0.80722	D	1	D;P;P	0.58268	0.982;0.709;0.914	D;P;P	0.66351	0.943;0.723;0.811	D	0.85496	0.1188	10	0.87932	D	0	-17.7302	16.1311	0.81442	0.0:0.0:0.0:1.0	.	100;119;100	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	C	100;100;100;100;43;100;119;100	ENSP00000363883:Y100C;ENSP00000363880:Y100C;ENSP00000363878:Y100C;ENSP00000363881:Y100C;ENSP00000363874:Y100C;ENSP00000444856:Y119C;ENSP00000414095:Y100C	ENSP00000363874:Y100C	Y	-	2	0	CUL2	35389826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.017000	0.70805	2.289000	0.77006	0.482000	0.46254	TAT		0.363	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		C	35349820	T	C	35349820	3	2	275	1	0	0	0	0	1	0	0	0	4055	1406	49	4	2010	4	CUL2	10	35349820	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08		35349820	100184927	46	15393											
FAM13C	220965	broad.mit.edu	37	10	61083760	61083760	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr10:61083760C>T	ENST00000373868.2	-	4	518	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	FAM13C_ENST00000435852.2_Missense_Mutation_p.R144Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.R144Q|FAM13C_ENST00000277705.6_Missense_Mutation_p.R144Q|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000373867.3_Missense_Mutation_p.R61Q|FAM13C_ENST00000419214.2_Missense_Mutation_p.R144Q|FAM13C_ENST00000422313.2_Missense_Mutation_p.R144Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.R61Q	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	144								p.R144Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGTTGAAGTCGCACTGTTTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	10											339	287	304					10																	61083760		2203	4300	6503	60753766	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.431G>A	10.37:g.61083760C>T	ENSP00000362975:p.Arg144Gln		60753766	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396846	0.42512	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.75821	0.46;-0.97;-0.97;0.41;0.47;0.49	5.96	0.529	0.17095	.	1.077470	0.07228	N	0.861974	T	0.61540	0.2355	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.21381	0.055;0.001;0.032;0.013;0.032	B;B;B;B;B	0.12837	0.008;0.001;0.008;0.002;0.005	T	0.49021	-0.8982	10	0.51188	T	0.08	2.6657	7.3947	0.26929	0.1201:0.6628:0.0:0.217	.	144;61;144;144;144	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	Q	61;144;144;144;144;61;144;144	ENSP00000362975:R144Q;ENSP00000395661:R144Q;ENSP00000277705:R144Q;ENSP00000391993:R144Q;ENSP00000392302:R144Q;ENSP00000400241:R144Q	ENSP00000277705:R144Q	R	-	2	0	FAM13C	60753766	0.000000	0.05858	0.028000	0.17463	0.571000	0.35966	-0.007000	0.12810	-0.140000	0.11394	-1.929000	0.00512	CGA		0.498	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			T	61083760	C	T	61083760	3	4	275	1	0	0	0	0	1	0	0	0	5454	884	31	1	1370	1	FAM13C	10	61083760	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	25733940	61083760	74450987	47	15394											
MYOF	26509	broad.mit.edu	37	10	95123805	95123805	+	Silent	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr10:95123805G>A	ENST00000359263.4	-	27	2780	c.2781C>T	c.(2779-2781)caC>caT	p.H927H	MYOF_ENST00000371502.4_Silent_p.H927H|MYOF_ENST00000358334.5_Silent_p.H914H|MYOF_ENST00000371501.4_Silent_p.H927H	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	927					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.H927H(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAACTCCGTGTGACCTGCAT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	10											69	69	69					10																	95123805		2007	4156	6163	95113795	SO:0001819	synonymous_variant	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2781C>T	10.37:g.95123805G>A			95113795	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	CCDS41551.1																																																																																				0.627	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		A	95123805	G	A	95123805	2	1	275	1	0	0	0	0	0	0	0	1	10089	1368	48	2		2	MYOF	10	95123805	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08	34040045	95123805	40410942	48	15395											
PLCE1	51196	broad.mit.edu	37	10	95791574	95791574	+	Silent	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr10:95791574C>T	ENST00000371380.3	+	1	1006	c.771C>T	c.(769-771)gaC>gaT	p.D257D	PLCE1_ENST00000260766.3_Silent_p.D257D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	257					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.D257D(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCATTGTGACACCTTGAATG	0.368																																																1	Substitution - coding silent(1)	ovary(1)	10											105	100	102					10																	95791574		1946	4146	6092	95781564	SO:0001819	synonymous_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.771C>T	10.37:g.95791574C>T			95781564	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																				0.368	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	95791574	C	T	95791574	2	4	275	1	0	0	0	0	0	0	0	1	12034	477	17	2		2	PLCE1	10	95791574	Silent	SNP	C	TCGA-24-2267-01A-01W-0799-08	667769	95791574	39743173	49	15396											
CC2D2B	387707	broad.mit.edu	37	10	97791678	97791678	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr10:97791678A>C	ENST00000344386.3	+	9	1046	c.882A>C	c.(880-882)gaA>gaC	p.E294D	ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.E373D|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	294								p.E294D(1)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CCCAGACAGAATTTGCTTTAG	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											155	138	143					10																	97791678		1849	4101	5950	97781668	SO:0001583	missense	387707			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 130"	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.882A>C	10.37:g.97791678A>C	ENSP00000343747:p.Glu294Asp		97781668	A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	CCDS41555.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.18|12.18	1.859132|1.859132	0.32884|0.32884	.|.	.|.	ENSG00000188649|ENSG00000188649	ENST00000451649;ENST00000344386|ENST00000410012	T|.	0.72725|.	-0.68|.	6.04|6.04	1.25|1.25	0.21368|0.21368	.|.	.|.	.|.	.|.	.|.	T|T	0.57125|0.57125	0.2032|0.2032	M|M	0.74467|0.74467	2.265|2.265	0.26975|0.26975	N|N	0.965486|0.965486	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.996;0.998|.	T|T	0.53697|0.53697	-0.8402|-0.8402	9|6	0.62326|0.87932	D|D	0.03|0	.|.	10.7126|10.7126	0.45993|0.45993	0.6877:0.0:0.3123:0.0|0.6877:0.0:0.3123:0.0	.|.	373;294|.	E9PCC3;Q6DHV5|.	.;C2D2B_HUMAN|.	D|T	373;294|374	ENSP00000343747:E294D|.	ENSP00000343747:E294D|ENSP00000386988:N374T	E|N	+|+	3|2	2|0	CC2D2B|CC2D2B	97781668|97781668	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.117000|0.117000	0.20001|0.20001	2.138000|2.138000	0.42140|0.42140	-0.039000|-0.039000	0.13602|0.13602	-2.026000|-2.026000	0.00426|0.00426	GAA|AAT		0.393	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		C	97791678	A	C	97791678	3	2	275	1	0	0	0	0	1	0	0	0	2729	98	4	5	1157	5	CC2D2B	10	97791678	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	2000104	97791678	37743069	50	15397											
DNTT	1791	broad.mit.edu	37	10	98064420	98064420	+	Missense_Mutation	SNP	G	G	T	rs373710274		TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr10:98064420G>T	ENST00000371174.2	+	1	268	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	DNTT_ENST00000419175.1_Missense_Mutation_p.A56S|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	56	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.A56S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CATGGAGCTGGCCCGCAGGAA	0.483																																																1	Substitution - Missense(1)	ovary(1)	10											38	45	42					10																	98064420		2203	4300	6503	98054410	SO:0001583	missense	1791			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.166G>T	10.37:g.98064420G>T	ENSP00000360216:p.Ala56Ser		98054410	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766447	0.90020	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.80393	-1.37;-1.37	5.9	5.9	0.94986	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.83603	2.65	0.58432	D	0.999994	D;D	0.62365	0.989;0.991	D;D	0.75484	0.976;0.986	D	0.90816	0.4705	10	0.62326	D	0.03	-1.5348	17.776	0.88508	0.0:0.0:1.0:0.0	.	56;56	P04053-2;P04053	.;TDT_HUMAN	S	56	ENSP00000401169:A56S;ENSP00000360216:A56S	ENSP00000360216:A56S	A	+	1	0	DNTT	98054410	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.309000	0.72825	2.806000	0.96561	0.655000	0.94253	GCC		0.483	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		T	98064420	G	T	98064420	3	4	275	1	0	0	0	0	1	0	0	0	4680	1203	42	3	168	3	DNTT	10	98064420	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	272742	98064420	37470327	51	15398											
UBQLN3	50613	broad.mit.edu	37	11	5529473	5529473	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr11:5529473G>A	ENST00000311659.4	-	2	1463	c.1316C>T	c.(1315-1317)aCa>aTa	p.T439I	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	439								p.T439I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCAAGTTTGTGCTATGTCC	0.532																																					Ovarian(72;684 1260 12332 41642 52180)											1	Substitution - Missense(1)	ovary(1)	11											100	104	103					11																	5529473		2201	4297	6498	5486049	SO:0001583	missense	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1316C>T	11.37:g.5529473G>A	ENSP00000347997:p.Thr439Ile		5486049	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	0.951	-0.706356	0.03230	.	.	ENSG00000175520	ENST00000311659	T	0.39592	1.07	4.74	2.88	0.33553	.	0.407958	0.18083	N	0.152244	T	0.33731	0.0873	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29701	-1.0003	10	0.62326	D	0.03	-27.8745	7.5941	0.28037	0.1947:0.0:0.8053:0.0	.	439	Q9H347	UBQL3_HUMAN	I	439	ENSP00000347997:T439I	ENSP00000347997:T439I	T	-	2	0	UBQLN3	5486049	0.001000	0.12720	0.001000	0.08648	0.076000	0.17211	0.615000	0.24329	0.721000	0.32231	-0.137000	0.14449	ACA		0.532	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		A	5529473	G	A	5529473	3	1	275	1	0	0	0	0	1	0	0	0	16898	1377	48	2	655	2	UBQLN3	11	5529473	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08		5529473	129477043	52	15399											
DCHS1	8642	broad.mit.edu	37	11	6661233	6661233	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr11:6661233A>T	ENST00000299441.3	-	2	2023	c.1612T>A	c.(1612-1614)Tat>Aat	p.Y538N		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y538N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAACTCATAGTCCAGTGAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	11											79	75	76					11																	6661233		2201	4296	6497	6617809	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1612T>A	11.37:g.6661233A>T	ENSP00000299441:p.Tyr538Asn		6617809	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455871	0.43634	.	.	ENSG00000166341	ENST00000299441	T	0.54479	0.57	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.413435	0.17892	N	0.158493	T	0.69495	0.3117	M	0.67700	2.07	0.50313	D	0.99986	D	0.76494	0.999	D	0.87578	0.998	T	0.66131	-0.6000	10	0.30078	T	0.28	.	14.515	0.67814	1.0:0.0:0.0:0.0	.	538	Q96JQ0	PCD16_HUMAN	N	538	ENSP00000299441:Y538N	ENSP00000299441:Y538N	Y	-	1	0	DCHS1	6617809	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.303000	0.72794	2.092000	0.63282	0.472000	0.43445	TAT		0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6661233	A	T	6661233	3	4	275	1	0	0	0	0	1	0	0	0	4287	420	15	5	8364	5	DCHS1	11	6661233	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	1131760	6661233	128345283	53	15400											
OR5B2	390190	broad.mit.edu	37	11	58190501	58190501	+	Missense_Mutation	SNP	C	C	A	rs146758345		TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr11:58190501C>A	ENST00000302581.2	-	1	285	c.234G>T	c.(232-234)aaG>aaT	p.K78N		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K78N(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAGCCATGACCTTGGGAGTGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											129	115	120					11																	58190501		2201	4295	6496	57947077	SO:0001583	missense	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.234G>T	11.37:g.58190501C>A	ENSP00000303076:p.Lys78Asn		57947077	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	c	4.344	0.063214	0.08388	.	.	ENSG00000172365	ENST00000302581	T	0.07444	3.19	3.8	-6.35	0.01975	GPCR, rhodopsin-like superfamily (1);	0.441264	0.16321	U	0.219551	T	0.08714	0.0216	M	0.75150	2.29	0.09310	N	1	B	0.23937	0.094	B	0.25614	0.062	T	0.16335	-1.0406	10	0.52906	T	0.07	-1.0671	6.8604	0.24064	0.219:0.1526:0.0:0.6284	.	78	Q96R09	OR5B2_HUMAN	N	78	ENSP00000303076:K78N	ENSP00000303076:K78N	K	-	3	2	OR5B2	57947077	0.000000	0.05858	0.009000	0.14445	0.234000	0.25298	-4.372000	0.00244	-1.302000	0.02335	-0.921000	0.02739	AAG		0.488	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		A	58190501	C	A	58190501	3	1	275	1	0	0	0	0	1	0	0	0	11150	680	24	3	699	3	OR5B2	11	58190501	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	51529268	58190501	76816015	54	15401											
NRXN2	9379	broad.mit.edu	37	11	64416248	64416248	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr11:64416248C>T	ENST00000377551.1	-	15	3452	c.3241G>A	c.(3241-3243)Gac>Aac	p.D1081N	NRXN2_ENST00000409571.1_Missense_Mutation_p.D1074N|NRXN2_ENST00000377559.3_Missense_Mutation_p.D1041N|NRXN2_ENST00000265459.6_Missense_Mutation_p.D1081N|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	1081	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.D1081N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCAGGGCGTCGGCGATGAGG	0.642																																																1	Substitution - Missense(1)	ovary(1)	11											91	78	83					11																	64416248		2201	4297	6498	64172824	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3241G>A	11.37:g.64416248C>T	ENSP00000366774:p.Asp1081Asn		64172824	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094373	0.94149	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	4.52	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.44097	U	0.000496	D	0.88347	0.6412	M	0.72624	2.21	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;P;D	0.77557	0.977;0.701;0.99	D	0.89717	0.3916	10	0.87932	D	0	.	14.7847	0.69793	0.0:1.0:0.0:0.0	.	1041;1081;827	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	N	1081;1041;1081;1041;1074	ENSP00000366774:D1081N;ENSP00000366782:D1041N;ENSP00000265459:D1081N;ENSP00000386416:D1074N	ENSP00000265459:D1081N	D	-	1	0	NRXN2	64172824	1.000000	0.71417	0.936000	0.37596	0.930000	0.56654	7.620000	0.83070	2.345000	0.79718	0.561000	0.74099	GAC		0.642	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		T	64416248	C	T	64416248	3	4	275	1	0	0	0	0	1	0	0	0	10666	884	31	1	2198	1	NRXN2	11	64416248	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	6225747	64416248	70590268	55	15402											
GSTP1	2950	broad.mit.edu	37	11	67353898	67353898	+	Silent	SNP	G	G	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr11:67353898G>T	ENST00000398606.3	+	7	732	c.483G>T	c.(481-483)ctG>ctT	p.L161L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Silent_p.L125L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	161	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)	p.L161L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ACTTGCTGCTGATCCATGAGG	0.647																																																1	Substitution - coding silent(1)	ovary(1)	11											53	57	56					11																	67353898		2119	4244	6363	67110474	SO:0001819	synonymous_variant	2950			U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"Glutathione S-transferases / Soluble"	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.483G>T	11.37:g.67353898G>T			67110474	O00460|Q15690|Q5TZY3	Silent	SNP	ENST00000398606.3	37	CCDS41679.1																																																																																				0.647	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		T	67353898	G	T	67353898	2	4	275	1	0	0	0	0	0	0	0	1	6844	1277	45	3		3	GSTP1	11	67353898	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08	2937650	67353898	67652618	56	15403											
KCNE3	10008	broad.mit.edu	37	11	74168346	74168346	+	Missense_Mutation	SNP	C	C	A	rs17221833		TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr11:74168346C>A	ENST00000310128.4	-	3	682	c.263G>T	c.(262-264)cGt>cTt	p.R88L	RP11-702H23.4_ENST00000533008.1_RNA|KCNE3_ENST00000525550.1_Missense_Mutation_p.R88L|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	88					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.R88L(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					GGGGTCACTACGCTTGTCCAC	0.502																																																1	Substitution - Missense(1)	ovary(1)	11											49	44	45					11																	74168346		2200	4293	6493	73845994	SO:0001583	missense	10008			AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"Potassium channels"	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.263G>T	11.37:g.74168346C>A	ENSP00000310557:p.Arg88Leu		73845994		Missense_Mutation	SNP	ENST00000310128.4	37	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819135	0.71028	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569	D;D;D	0.92048	-2.96;-2.96;-2.96	5.22	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.94046	0.8092	L	0.60455	1.87	0.47819	D	0.999528	D	0.64830	0.994	D	0.66084	0.941	D	0.94058	0.7324	10	0.66056	D	0.02	-0.0017	11.6251	0.51139	0.0:0.9144:0.0:0.0856	.	88	Q9Y6H6	KCNE3_HUMAN	L	88	ENSP00000310557:R88L;ENSP00000433633:R88L;ENSP00000431739:R88L	ENSP00000310557:R88L	R	-	2	0	KCNE3	73845994	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	2.461000	0.45040	1.437000	0.47472	-0.258000	0.10820	CGT		0.502	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		A	74168346	C	A	74168346	3	1	275	1	0	0	0	0	1	0	0	0	8024	536	19	3	52	3	KCNE3	11	74168346	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	6814448	74168346	60838170	57	15404											
ALKBH8	91801	broad.mit.edu	37	11	107403034	107403034	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr11:107403034C>G	ENST00000428149.2	-	8	1021	c.870G>C	c.(868-870)tgG>tgC	p.W290C	ALKBH8_ENST00000389568.3_Missense_Mutation_p.W290C|ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Missense_Mutation_p.W293C	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	290	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)	p.W293C(1)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		ACCCATGGGTCCAAAGGTATC	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											104	88	93					11																	107403034		692	1591	2283	106908244	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.870G>C	11.37:g.107403034C>G	ENSP00000415885:p.Trp290Cys		106908244	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294675	0.81025	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.37584	1.19;1.19;1.19	5.01	5.01	0.66863	Oxoglutarate/iron-dependent oxygenase (2);	0.125717	0.64402	D	0.000019	T	0.72036	0.3411	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82121	-0.0614	10	0.87932	D	0	-18.4228	17.2915	0.87158	0.0:1.0:0.0:0.0	.	290;293	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	C	290;290;293	ENSP00000415885:W290C;ENSP00000374219:W290C;ENSP00000397673:W293C	ENSP00000374219:W290C	W	-	3	0	ALKBH8	106908244	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.324000	0.79115	2.324000	0.78689	0.655000	0.94253	TGG		0.458	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		G	107403034	C	G	107403034	3	3	275	1	0	0	0	0	1	0	0	0	533	856	30	3	1144	3	ALKBH8	11	107403034	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	33234688	107403034	27603482	58	15405											
KIRREL3	84623	broad.mit.edu	37	11	126306737	126306737	+	Silent	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr11:126306737G>A	ENST00000525144.2	-	12	1770	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000525704.2_Silent_p.S507S|KIRREL3_ENST00000529097.2_Silent_p.S507S	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	507	Ig-like C2-type 5.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S466S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTCAGTGTCGGAGCCGAAGC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	11											113	120	117					11																	126306737		2195	4297	6492	125811947	SO:0001819	synonymous_variant	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1521C>T	11.37:g.126306737G>A			125811947	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	CCDS53723.1																																																																																				0.607	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		A	126306737	G	A	126306737	2	1	275	1	0	0	0	0	0	0	0	1	8326	1103	39	1		1	KIRREL3	11	126306737	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08	18903703	126306737	8699779	59	15406											
LRRC23	10233	broad.mit.edu	37	12	7014876	7014876	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr12:7014876G>C	ENST00000007969.8	+	2	299	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	LRRC23_ENST00000433346.1_Missense_Mutation_p.E27Q|LRRC23_ENST00000436789.1_Missense_Mutation_p.E27Q|LRRC23_ENST00000429740.1_Missense_Mutation_p.E27Q|LRRC23_ENST00000323702.5_Missense_Mutation_p.E27Q|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Missense_Mutation_p.E27Q	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	27								p.E27Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						gaaggagacagaggaggggga	0.537																																																2	Substitution - Missense(2)	ovary(2)	12											58	63	61					12																	7014876		2203	4300	6503	6885137	SO:0001583	missense	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.79G>C	12.37:g.7014876G>C	ENSP00000007969:p.Glu27Gln		6885137	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084632	0.36758	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	T;T;T;T;T;T;T	0.71461	1.47;-0.22;-0.57;-0.22;0.57;1.53;1.03	4.74	4.74	0.60224	.	.	.	.	.	T	0.77745	0.4176	L	0.50333	1.59	0.30042	N	0.812568	D;D;D;D	0.76494	0.999;0.997;0.984;0.984	D;P;P;P	0.65443	0.935;0.9;0.69;0.69	T	0.71748	-0.4499	9	0.30078	T	0.28	-11.4719	13.0943	0.59182	0.0:0.0:1.0:0.0	.	27;27;27;27	E9PDZ4;Q53EV4-2;Q53EV4;C9JKE8	.;.;LRC23_HUMAN;.	Q	27	ENSP00000402554:E27Q;ENSP00000007969:E27Q;ENSP00000317464:E27Q;ENSP00000390932:E27Q;ENSP00000408066:E27Q;ENSP00000396049:E27Q;ENSP00000397192:E27Q	ENSP00000007969:E27Q	E	+	1	0	LRRC23	6885137	0.961000	0.32948	1.000000	0.80357	0.434000	0.31775	1.634000	0.37123	2.452000	0.82932	0.561000	0.74099	GAG		0.537	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		C	7014876	G	C	7014876	3	2	275	1	0	0	0	0	1	0	0	0	8978	943	33	3	81	3	LRRC23	12	7014876	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08		7014876	126837019	60	15407											
GUCY2C	2984	broad.mit.edu	37	12	14849316	14849316	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr12:14849316T>C	ENST00000261170.3	-	1	203	c.67A>G	c.(67-69)Agt>Ggt	p.S23G	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	23					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.S23G(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACCTGGGAACTAAAGGACAGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	12											99	95	97					12																	14849316		2203	4300	6503	14740583	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.67A>G	12.37:g.14849316T>C	ENSP00000261170:p.Ser23Gly		14740583	B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	T	8.055	0.766745	0.15983	.	.	ENSG00000070019	ENST00000261170	T	0.81163	-1.46	4.84	-9.68	0.00528	.	2.964170	0.00754	N	0.001080	T	0.57446	0.2054	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.52510	-0.8566	10	0.22706	T	0.39	.	7.2912	0.26366	0.336:0.5063:0.0:0.1577	.	23	P25092	GUC2C_HUMAN	G	23	ENSP00000261170:S23G	ENSP00000261170:S23G	S	-	1	0	GUCY2C	14740583	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.286000	0.00134	-2.639000	0.00430	-0.339000	0.08088	AGT		0.517	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			C	14849316	T	C	14849316	3	2	275	1	0	0	0	0	1	0	0	0	6896	1522	53	4	3262	4	GUCY2C	12	14849316	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	7834440	14849316	119002579	61	15408											
SOX5	6660	broad.mit.edu	37	12	24048941	24048941	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr12:24048941G>C	ENST00000451604.2	-	2	157	c.56C>G	c.(55-57)cCa>cGa	p.P19R	SOX5_ENST00000545921.1_Missense_Mutation_p.P9R|SOX5_ENST00000546136.1_Missense_Mutation_p.P6R|SOX5_ENST00000309359.1_Missense_Mutation_p.P6R|SOX5_ENST00000541847.1_Missense_Mutation_p.P9R|SOX5_ENST00000441133.2_Missense_Mutation_p.P19R|SOX5_ENST00000381381.2_Missense_Mutation_p.P6R|SOX5_ENST00000541536.1_Missense_Mutation_p.P6R|SOX5_ENST00000537393.1_Missense_Mutation_p.P19R			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	19					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P19R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CGGAGAGGCTGGTCGCTTGGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											129	125	127					12																	24048941		2203	4300	6503	23940208	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.56C>G	12.37:g.24048941G>C	ENSP00000398273:p.Pro19Arg		23940208	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925181	0.73213	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.98044	-4.35;-4.35;-4.4;-4.37;-4.68;-4.4;-4.36	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.98566	0.9521	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.997;0.996	D;D;D;D	0.87578	0.998;0.931;0.994;0.944	D	0.99593	1.0976	10	0.87932	D	0	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	19;19;6;19	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	R	6;6;6;19;6;19;6;9;9;19;6	ENSP00000437487:P6R;ENSP00000308927:P6R;ENSP00000370788:P6R;ENSP00000398273:P19R;ENSP00000439832:P19R;ENSP00000441973:P6R;ENSP00000443520:P9R	ENSP00000308927:P6R	P	-	2	0	SOX5	23940208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.069000	0.93967	2.792000	0.96026	0.557000	0.71058	CCA		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		C	24048941	G	C	24048941	3	2	275	1	0	0	0	0	1	0	0	0	14957	1348	47	3	2301	3	SOX5	12	24048941	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	9199625	24048941	109802954	62	15409											
OR6C1	390321	broad.mit.edu	37	12	55714821	55714821	+	Silent	SNP	T	T	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr12:55714821T>G	ENST00000379668.2	+	1	476	c.438T>G	c.(436-438)tcT>tcG	p.S146S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S146S(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTTTTACTTCTTGGCTGGTTT	0.403																																																1	Substitution - coding silent(1)	ovary(1)	12											45	42	43					12																	55714821		2203	4299	6502	54001088	SO:0001819	synonymous_variant	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.438T>G	12.37:g.55714821T>G			54001088	B2RNM0	Silent	SNP	ENST00000379668.2	37	CCDS31818.1																																																																																				0.403	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		G	55714821	T	G	55714821	2	3	275	1	0	0	0	0	0	0	0	1	11190	1596	56	5		5	OR6C1	12	55714821	Silent	SNP	T	TCGA-24-2267-01A-01W-0799-08	31665880	55714821	78137074	63	15410											
SERPINA9	327657	broad.mit.edu	37	14	94929496	94929496	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr14:94929496C>A	ENST00000380365.3	-	5	1266	c.1188G>T	c.(1186-1188)atG>atT	p.M396I	RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000424550.2_Missense_Mutation_p.M265I|SERPINA9_ENST00000298845.7_Missense_Mutation_p.M314I|SERPINA9_ENST00000448305.2_Missense_Mutation_p.M316I|SERPINA9_ENST00000337425.5_Missense_Mutation_p.M414I			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	396					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M414I(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TATTTGTAATCATCATCAGGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	14											139	133	135					14																	94929496		1977	4159	6136	93999249	SO:0001583	missense	327657			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.1188G>T	14.37:g.94929496C>A	ENSP00000369723:p.Met396Ile		93999249	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37		.	.	.	.	.	.	.	.	.	.	C	3.674	-0.066864	0.07273	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	4.2	-0.788	0.10939	.	1.199070	0.06204	N	0.683803	T	0.61652	0.2364	N	0.05177	-0.1	0.09310	N	0.999992	B;B;B	0.19445	0.013;0.002;0.036	B;B;B	0.22386	0.012;0.006;0.039	T	0.48222	-0.9054	10	0.26408	T	0.33	.	1.7096	0.02889	0.1341:0.336:0.1321:0.3978	.	316;414;314	Q86WD7-6;Q86WD7-7;Q86WD7-2	.;.;.	I	316;314;265;414;396	ENSP00000414092:M316I;ENSP00000298845:M314I;ENSP00000409012:M265I;ENSP00000337133:M414I;ENSP00000369723:M396I	ENSP00000298845:M314I	M	-	3	0	SERPINA9	93999249	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.850000	0.01670	-0.032000	0.13758	0.555000	0.69702	ATG		0.473	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		A	94929496	C	A	94929496	3	1	275	1	0	0	0	0	1	0	0	0	14098	826	29	3	69	3	SERPINA9	14	94929496	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08		94929496	12420044	64	15411											
ATP10A	57194	broad.mit.edu	37	15	25926004	25926004	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr15:25926004C>A	ENST00000356865.6	-	19	3742	c.3631G>T	c.(3631-3633)Gcg>Tcg	p.A1211S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1211					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1211S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTGAGCAGCGCGATTGTCACA	0.572																																																1	Substitution - Missense(1)	ovary(1)	15											136	130	132					15																	25926004		2203	4300	6503	23477097	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3631G>T	15.37:g.25926004C>A	ENSP00000349325:p.Ala1211Ser		23477097	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506945	0.44558	.	.	ENSG00000206190	ENST00000356865	T	0.39229	1.09	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.28740	0.885	0.49915	D	0.999831	P	0.42620	0.785	B	0.37015	0.239	T	0.06588	-1.0818	10	0.30078	T	0.28	-21.8715	19.3809	0.94532	0.0:1.0:0.0:0.0	.	1211	O60312	AT10A_HUMAN	S	1211	ENSP00000349325:A1211S	ENSP00000349325:A1211S	A	-	1	0	ATP10A	23477097	1.000000	0.71417	0.106000	0.21319	0.015000	0.08874	4.490000	0.60319	2.578000	0.87016	0.655000	0.94253	GCG		0.572	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		A	25926004	C	A	25926004	3	1	275	1	0	0	0	0	1	0	0	0	1116	768	27	3	880	3	ATP10A	15	25926004	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08		25926004	76605388	65	15412											
NLRC3	197358	broad.mit.edu	37	16	3598755	3598755	+	RNA	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr16:3598755T>C	ENST00000301749.7	-	0	3009				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTGTCAGGCTAGGAGGAAGG	0.632																																																1	Unknown(1)	ovary(1)	16											26	28	27					16																	3598755		2028	4180	6208	3538756			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3598755T>C			3538756	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Splice_Site	SNP	ENST00000301749.7	37		.	.	.	.	.	.	.	.	.	.	T	12.64	1.998854	0.35226	.	.	ENSG00000167984	ENST00000301749;ENST00000448023	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1095	0.48223	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NLRC3	3538756	1.000000	0.71417	0.969000	0.41365	0.748000	0.42578	3.994000	0.56994	1.898000	0.54952	0.374000	0.22700	.		0.632	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		C	3598755	T	C	3598755	1	2	275	0	1	0	0	0	0	0	0	0	10468	1536	53	4		4	NLRC3	16	3598755	RNA	SNP	T	TCGA-24-2267-01A-01W-0799-08		3598755	86755998	66	15413											
ABCC11	85320	broad.mit.edu	37	16	48227793	48227793	+	Silent	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr16:48227793C>T	ENST00000394747.1	-	18	2854	c.2505G>A	c.(2503-2505)tcG>tcA	p.S835S	ABCC11_ENST00000353782.5_Silent_p.S835S|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.S835S|ABCC11_ENST00000356608.2_Silent_p.S835S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	835	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.S835S(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CACTCACCCCCGAGCCCTGCT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	16											114	85	95					16																	48227793		2201	4300	6501	46785294	SO:0001819	synonymous_variant	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2505G>A	16.37:g.48227793C>T			46785294	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																				0.522	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		T	48227793	C	T	48227793	2	4	275	1	0	0	0	0	0	0	0	1	51	639	23	1		1	ABCC11	16	48227793	Silent	SNP	C	TCGA-24-2267-01A-01W-0799-08	44629038	48227793	42126960	67	15414											
TRPV3	162514	broad.mit.edu	37	17	3427603	3427603	+	Silent	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr17:3427603G>A	ENST00000576742.1	-	13	1953	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y	TRPV3_ENST00000572519.1_Silent_p.Y544Y|TRPV3_ENST00000301365.4_Silent_p.Y544Y	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	544					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.Y544Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGTACTCTTTGTAGGCAAACA	0.527																																																1	Substitution - coding silent(1)	ovary(1)	17											116	105	109					17																	3427603		2203	4300	6503	3374353	SO:0001819	synonymous_variant	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1632C>T	17.37:g.3427603G>A			3374353	Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	CCDS11029.1																																																																																				0.527	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		A	3427603	G	A	3427603	2	1	275	1	0	0	0	0	0	0	0	1	16597	1372	48	2		2	TRPV3	17	3427603	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08		3427603	77767607	68	15415											
TP53	7157	broad.mit.edu	37	17	7577088	7577088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	-	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr17:7577088delT	ENST00000269305.4	-	8	1039	c.850delA	c.(850-852)acafs	p.T284fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.T284fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.T284fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.T284fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.T284fs|TP53_ENST00000574684.1_5'Flank	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	284	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T284P(9)|p.0?(8)|p.T284A(3)|p.?(2)|p.T284fs*21(2)|p.T284fs*62(2)|p.R283fs*16(2)|p.T284fs*61(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.R283fs*59(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)	TCTTCCTCTGTGCGCCGGTCT	0.562		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"	39	Substitution - Missense(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(5)|large_intestine(5)|breast(4)|ovary(4)|bone(4)|stomach(3)|lung(3)|central_nervous_system(2)|urinary_tract(1)|skin(1)	17											88	75	79					17																	7577088		2203	4300	6503	7517813	SO:0001589	frameshift_variant	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.850delA	17.37:g.7577088delT	ENSP00000269305:p.Thr284fs		7517813	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577088	T	-	7577088	7	5	275	1	0	1	0	1	0	0	0	0	16381	1696	59	0	436	0	TP53	17	7577088	Frame_Shift_Del	DEL	T	TCGA-24-2267-01A-01W-0799-08	4149485	7577088	73618122	69	15416											
MYOCD	93649	broad.mit.edu	37	17	12639616	12639616	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr17:12639616C>T	ENST00000343344.4	+	6	554	c.554C>T	c.(553-555)tCa>tTa	p.S185L	AC005358.1_ENST00000609971.1_Missense_Mutation_p.S89L|MYOCD_ENST00000425538.1_Missense_Mutation_p.S185L|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	185	HDAC5-binding. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.S185L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTAAAGCCTCAGATACCCCT	0.483																																																1	Substitution - Missense(1)	ovary(1)	17											80	87	85					17																	12639616		2203	4300	6503	12580341	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.554C>T	17.37:g.12639616C>T	ENSP00000341835:p.Ser185Leu		12580341	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	9.054	0.992868	0.18966	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.50548	0.74	6.03	1.72	0.24424	.	1.124580	0.06442	N	0.726145	T	0.38241	0.1033	L	0.36672	1.1	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.002;0.002;0.002	T	0.27262	-1.0079	10	0.30078	T	0.28	3.7688	9.0011	0.36083	0.0:0.6181:0.0:0.3819	.	89;185;185	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	L	185;185;89	ENSP00000341835:S185L	ENSP00000341835:S185L	S	+	2	0	MYOCD	12580341	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	0.293000	0.19029	0.392000	0.25172	0.655000	0.94253	TCA		0.483	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		T	12639616	C	T	12639616	3	4	275	1	0	0	0	0	1	0	0	0	10087	838	29	2	576	2	MYOCD	17	12639616	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	5062528	12639616	68555594	70	15417											
NLE1	54475	broad.mit.edu	37	17	33460466	33460466	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr17:33460466C>A	ENST00000442241.4	-	11	1305	c.1266G>T	c.(1264-1266)tgG>tgT	p.W422C	NLE1_ENST00000586869.1_Missense_Mutation_p.W130C|NLE1_ENST00000360831.5_Missense_Mutation_p.W380C	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	422					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.W422C(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TGTCAGCTGACCACGCAATCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	17											39	33	35					17																	33460466		2203	4300	6503	30484579	SO:0001583	missense	54475				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1266G>T	17.37:g.33460466C>A	ENSP00000413572:p.Trp422Cys		30484579	O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.415411|4.415411	0.83449|0.83449	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000436188|ENST00000442241;ENST00000360831;ENST00000537697	.|T	.|0.66280	.|-0.2	5.14|5.14	5.14|5.14	0.70334|0.70334	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78972|0.78972	0.4368|0.4368	M|M	0.75884|0.75884	2.315|2.315	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.995;0.999	T|T	0.81206|0.81206	-0.1038|-0.1038	5|10	.|0.87932	.|D	.|0	-11.7276|-11.7276	16.146|16.146	0.81569|0.81569	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|398;422	.|B4E074;Q9NVX2	.|.;NLE1_HUMAN	V|C	241|422;130;398	.|ENSP00000413572:W422C	.|ENSP00000354075:W130C	G|W	-|-	2|3	0|0	NLE1|NLE1	30484579|30484579	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	5.449000|5.449000	0.66619|0.66619	2.653000|2.653000	0.90120|0.90120	0.563000|0.563000	0.77884|0.77884	GGT|TGG		0.592	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		A	33460466	C	A	33460466	3	1	275	1	0	0	0	0	1	0	0	0	10460	508	18	3	203	3	NLE1	17	33460466	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	20820850	33460466	47734744	71	15418											
ARL4D	379	broad.mit.edu	37	17	41477150	41477150	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr17:41477150C>G	ENST00000320033.4	+	2	257	c.50C>G	c.(49-51)cCc>cGc	p.P17R		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	17					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P17R(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TCCTTCTTGCCCCACTTCCAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	17											73	71	72					17																	41477150		2203	4300	6503	38832676	SO:0001583	missense	379			AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	656	protein-coding gene	gene with protein product		600732	"ADP-ribosylation factor 4-like"	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.50C>G	17.37:g.41477150C>G	ENSP00000322628:p.Pro17Arg		38832676	B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	37	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943351	0.53079	.	.	ENSG00000175906	ENST00000320033	T	0.75154	-0.91	4.82	4.82	0.62117	.	0.064960	0.64402	D	0.000007	T	0.78953	0.4365	L	0.36672	1.1	0.58432	D	0.999998	D	0.56746	0.977	D	0.65323	0.934	T	0.75230	-0.3391	10	0.27082	T	0.32	-9.645	17.1766	0.86843	0.0:1.0:0.0:0.0	.	17	P49703	ARL4D_HUMAN	R	17	ENSP00000322628:P17R	ENSP00000322628:P17R	P	+	2	0	ARL4D	38832676	0.997000	0.39634	0.968000	0.41197	0.005000	0.04900	5.691000	0.68249	2.643000	0.89663	0.563000	0.77884	CCC		0.557	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		G	41477150	C	G	41477150	3	3	275	1	0	0	0	0	1	0	0	0	938	623	22	3	52	3	ARL4D	17	41477150	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	8016684	41477150	39718060	72	15419											
STXBP4	252983	broad.mit.edu	37	17	53063586	53063586	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr17:53063586T>G	ENST00000376352.2	+	3	213	c.6T>G	c.(4-6)aaT>aaG	p.N2K	STXBP4_ENST00000434978.2_Missense_Mutation_p.N2K|STXBP4_ENST00000398391.2_De_novo_Start_OutOfFrame|STXBP4_ENST00000299341.4_De_novo_Start_OutOfFrame|STXBP4_ENST00000405898.1_Missense_Mutation_p.N2K	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	2					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.N2K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAAGCATGAATAAAAATACAT	0.279																																																1	Substitution - Missense(1)	ovary(1)	17											58	63	61					17																	53063586		2203	4290	6493	50418585	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.6T>G	17.37:g.53063586T>G	ENSP00000365530:p.Asn2Lys		50418585	Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056606	0.36277	.	.	ENSG00000166263	ENST00000376352;ENST00000405898;ENST00000434978	T;T;T	0.03920	3.87;3.76;3.85	5.53	3.29	0.37713	.	0.683455	0.14806	N	0.297366	T	0.03915	0.0110	L	0.44542	1.39	0.80722	D	1	B;P	0.43094	0.18;0.799	B;B	0.30179	0.037;0.112	T	0.48445	-0.9035	10	0.66056	D	0.02	-5.6338	7.0757	0.25203	0.0:0.1781:0.0:0.8219	.	2;2	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	K	2	ENSP00000365530:N2K;ENSP00000385944:N2K;ENSP00000391087:N2K	ENSP00000365530:N2K	N	+	3	2	STXBP4	50418585	1.000000	0.71417	0.948000	0.38648	0.472000	0.32918	2.276000	0.43408	1.121000	0.41925	0.533000	0.62120	AAT		0.279	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		G	53063586	T	G	53063586	3	3	275	1	0	0	0	0	1	0	0	0	15357	1403	49	5	8	5	STXBP4	17	53063586	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	11586436	53063586	28131624	73	15420											
TUBD1	51174	broad.mit.edu	37	17	57937777	57937777	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr17:57937777A>G	ENST00000592426.1	-	8	1268	c.1268T>C	c.(1267-1269)aTt>aCt	p.I423T	TUBD1_ENST00000376094.4_Missense_Mutation_p.I321T|TUBD1_ENST00000394239.3_Missense_Mutation_p.I366T|TUBD1_ENST00000346141.6_Missense_Mutation_p.I169T|TUBD1_ENST00000325752.3_Missense_Mutation_p.I423T|TUBD1_ENST00000539018.1_Missense_Mutation_p.I207T|TUBD1_ENST00000340993.6_Missense_Mutation_p.I368T			Q9UJT1	TBD_HUMAN	tubulin, delta 1	423					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.I423T(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GTACTGATGAATGTAGGCTCT	0.333																																																1	Substitution - Missense(1)	ovary(1)	17											93	91	91					17																	57937777		2203	4300	6503	55292559	SO:0001583	missense	51174			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1268T>C	17.37:g.57937777A>G	ENSP00000468518:p.Ile423Thr		55292559	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.280780	0.59758	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000376094;ENST00000539018	T;T;T;T;T	0.80653	-1.26;-0.9;-1.4;-0.92;-1.05	5.95	5.95	0.96441	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.552860	0.21365	N	0.075736	T	0.81702	0.4878	L	0.48362	1.52	0.52501	D	0.99995	B;B;B;B;B;B	0.33512	0.03;0.415;0.068;0.038;0.052;0.006	B;B;B;B;B;B	0.42522	0.047;0.39;0.015;0.022;0.037;0.017	T	0.82139	-0.0605	10	0.87932	D	0	-5.3213	16.4069	0.83677	1.0:0.0:0.0:0.0	.	366;169;368;321;368;423	E9PCA7;Q9UJT1-3;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;.;TBD_HUMAN	T	423;368;169;366;321;207	ENSP00000320797:I423T;ENSP00000342399:I368T;ENSP00000342561:I169T;ENSP00000377785:I366T;ENSP00000365262:I321T	ENSP00000320797:I423T	I	-	2	0	TUBD1	55292559	1.000000	0.71417	0.972000	0.41901	0.953000	0.61014	8.726000	0.91474	2.272000	0.75746	0.460000	0.39030	ATT		0.333	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		G	57937777	A	G	57937777	3	3	275	1	0	0	0	0	1	0	0	0	16762	101	4	4	97	4	TUBD1	17	57937777	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	4874191	57937777	23257433	74	15421											
TSPAN10	5148	broad.mit.edu	37	17	79615016	79615016	+	IGR	SNP	G	G	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr17:79615016G>T	ENST00000331056.5	-	0	1023				TSPAN10_ENST00000328585.4_RNA|TSPAN10_ENST00000572675.1_RNA|PDE6G_ENST00000574777.1_5'Flank	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma						activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)	p.V254F(1)		lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	TGGAGCCTCTGTCAACGACCA	0.682																																					GBM(189;38 2147 16440 40945 46567)											1	Substitution - Missense(1)	ovary(1)	17											17	21	20					17																	79615016		2008	4170	6178	77225421	SO:0001628	intergenic_variant	83882				CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"Phosphodiesterases"	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545			17.37:g.79615016G>T			77225421	Q3KP63|Q7Z3U8	Missense_Mutation	SNP	ENST00000331056.5	37	CCDS11783.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553370	0.27739	.	.	ENSG00000182612	ENST00000328585	T	0.08008	3.14	4.48	-0.4	0.12411	Tetraspanin, EC2 domain (1);	0.700949	0.14102	N	0.341318	T	0.15782	0.0380	.	.	.	0.09310	N	1	D	0.60160	0.987	P	0.60789	0.879	T	0.08953	-1.0697	9	0.48119	T	0.1	-29.7327	5.0916	0.14711	0.5493:0.1605:0.2902:0.0	.	254	Q9H1Z9	TSN10_HUMAN	F	254	ENSP00000331620:V254F	ENSP00000331620:V254F	V	+	1	0	TSPAN10	77225421	0.010000	0.17322	0.002000	0.10522	0.872000	0.50106	0.250000	0.18235	0.059000	0.16252	-0.150000	0.13652	GTC		0.682	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			T	79615016	G	T	79615016	1	4	275	0	1	0	0	0	0	0	0	0	16634	1377	48	3		3	TSPAN10	17	79615016	IGR	SNP	G	TCGA-24-2267-01A-01W-0799-08	21677239	79615016	1580194	75	15422											
TGIF1	7050	broad.mit.edu	37	18	3456474	3456474	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr18:3456474G>T	ENST00000330513.5	+	2	829	c.526G>T	c.(526-528)Gtg>Ttg	p.V176L	TGIF1_ENST00000551402.1_Missense_Mutation_p.V47L|TGIF1_ENST00000345133.5_Missense_Mutation_p.V27L|TGIF1_ENST00000407501.2_Missense_Mutation_p.V47L|TGIF1_ENST00000551541.1_Missense_Mutation_p.V27L|TGIF1_ENST00000401449.1_Missense_Mutation_p.V27L|TGIF1_ENST00000577543.1_Missense_Mutation_p.V47L|TGIF1_ENST00000405385.3_Missense_Mutation_p.V27L|TGIF1_ENST00000472042.1_Missense_Mutation_p.V27L|TGIF1_ENST00000548489.2_Missense_Mutation_p.V61L|TGIF1_ENST00000400167.2_Missense_Mutation_p.V27L|TGIF1_ENST00000343820.5_Missense_Mutation_p.V47L	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	176					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V176L(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CAAGGAGTCTGTGCAGATTCT	0.517																																																1	Substitution - Missense(1)	ovary(1)	18											217	195	202					18																	3456474		2203	4300	6503	3446474	SO:0001583	missense	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.526G>T	18.37:g.3456474G>T	ENSP00000327959:p.Val176Leu		3446474	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303493	0.81136	.	.	ENSG00000177426	ENST00000552383;ENST00000401449;ENST00000550958;ENST00000548489;ENST00000549780;ENST00000549253;ENST00000405385;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551402;ENST00000551541;ENST00000345133;ENST00000330513;ENST00000549546;ENST00000549468;ENST00000400167;ENST00000551333;ENST00000472042	D;D;D;D;D;D;D;D;D;T;D;D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;0.72;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	L	0.52905	1.665	0.80722	D	1	D;P;D;D	0.89917	1.0;0.865;0.999;0.999	D;P;D;D	0.83275	0.996;0.838;0.993;0.995	D	0.88434	0.3037	10	0.87932	D	0	-23.1159	20.4214	0.99039	0.0:0.0:1.0:0.0	.	47;176;47;61	F8W1J9;Q15583;Q15583-2;F8VZB6	.;TGIF1_HUMAN;.;.	L	27;27;27;61;27;50;27;47;47;47;47;27;27;176;27;27;27;27;27	ENSP00000449287:V27L;ENSP00000385206:V27L;ENSP00000449531:V27L;ENSP00000447747:V61L;ENSP00000448121:V27L;ENSP00000384970:V27L;ENSP00000339631:V47L;ENSP00000384133:V47L;ENSP00000448934:V47L;ENSP00000446944:V47L;ENSP00000450025:V27L;ENSP00000343969:V27L;ENSP00000327959:V176L;ENSP00000449580:V27L;ENSP00000449722:V27L;ENSP00000383031:V27L;ENSP00000446838:V27L;ENSP00000449501:V27L	ENSP00000327959:V176L	V	+	1	0	TGIF1	3446474	1.000000	0.71417	0.966000	0.40874	0.870000	0.49936	9.473000	0.97714	2.820000	0.97059	0.655000	0.94253	GTG		0.517	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		T	3456474	G	T	3456474	3	4	275	1	0	0	0	0	1	0	0	0	15825	1377	48	3	614	3	TGIF1	18	3456474	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08		3456474	74620774	76	15423											
DSC1	1823	broad.mit.edu	37	18	28714042	28714042	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr18:28714042G>A	ENST00000257198.5	-	13	2189	c.1928C>T	c.(1927-1929)tCt>tTt	p.S643F	RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.S643F	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	643	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S643F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AATAGGCACAGAATAATAGTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	18											114	114	114					18																	28714042		2203	4299	6502	26968040	SO:0001583	missense	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1928C>T	18.37:g.28714042G>A	ENSP00000257198:p.Ser643Phe		26968040	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	3.644	-0.072868	0.07228	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.61392	0.11;0.11	5.91	-0.396	0.12427	Cadherin (2);Cadherin-like (1);	0.846377	0.10265	N	0.695502	T	0.38453	0.1041	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.003	T	0.21109	-1.0255	10	0.33940	T	0.23	.	1.888	0.03242	0.1365:0.2226:0.2985:0.3424	.	643;643	Q08554;Q9HB00	DSC1_HUMAN;.	F	643	ENSP00000257197:S643F;ENSP00000257198:S643F	ENSP00000257197:S643F	S	-	2	0	DSC1	26968040	0.000000	0.05858	0.012000	0.15200	0.042000	0.13812	-0.260000	0.08708	-0.401000	0.07644	-0.224000	0.12420	TCT		0.358	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		A	28714042	G	A	28714042	3	1	275	1	0	0	0	0	1	0	0	0	4765	942	33	2	812	2	DSC1	18	28714042	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	25257568	28714042	49363206	77	15424											
INSR	3643	broad.mit.edu	37	19	7267483	7267483	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr19:7267483G>T	ENST00000302850.5	-	2	667	c.525C>A	c.(523-525)aaC>aaA	p.N175K	INSR_ENST00000341500.5_Missense_Mutation_p.N175K	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	175					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.N175K(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGTCATCTTTGTTCAACACGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	19											165	128	141					19																	7267483		2203	4300	6503	7218483	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.525C>A	19.37:g.7267483G>T	ENSP00000303830:p.Asn175Lys		7218483	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305779	0.60305	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82893	-1.66;-1.66	5.1	5.1	0.69264	.	0.000000	0.50627	D	0.000119	D	0.91751	0.7391	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.91635	0.999;0.985;0.847	D	0.92970	0.6397	10	0.72032	D	0.01	.	16.0231	0.80512	0.0:0.0:1.0:0.0	.	166;175;175	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	K	175	ENSP00000303830:N175K;ENSP00000342838:N175K	ENSP00000303830:N175K	N	-	3	2	INSR	7218483	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	5.024000	0.64090	2.363000	0.80096	0.563000	0.77884	AAC		0.527	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			T	7267483	G	T	7267483	3	4	275	1	0	0	0	0	1	0	0	0	7773	1368	48	3	3707	3	INSR	19	7267483	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08		7267483	51861500	78	15425											
RAB3D	9545	broad.mit.edu	37	19	11446127	11446127	+	Silent	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr19:11446127G>A	ENST00000222120.3	-	4	728	c.468C>T	c.(466-468)gaC>gaT	p.D156D	RAB3D_ENST00000589655.1_Silent_p.D156D	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	156					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.D156D(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						ACTAACCAAGGTCGTCGGCGA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	19											58	50	53					19																	11446127		2203	4300	6503	11307127	SO:0001819	synonymous_variant	9545			AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"RAB, member RAS oncogene"	9779	protein-coding gene	gene with protein product	"Rab3D upregulated with myeloid differentiation", "glioblastoma overexpressed"	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.468C>T	19.37:g.11446127G>A			11307127		Silent	SNP	ENST00000222120.3	37	CCDS12257.1																																																																																				0.607	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		A	11446127	G	A	11446127	2	1	275	1	0	0	0	0	0	0	0	1	12937	1252	44	2		2	RAB3D	19	11446127	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08	4178644	11446127	47682856	79	15426											
SLC35E1	79939	broad.mit.edu	37	19	16677361	16677361	+	Silent	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr19:16677361G>A	ENST00000595753.1	-	4	755	c.738C>T	c.(736-738)ttC>ttT	p.F246F	SLC35E1_ENST00000431408.1_Silent_p.F90F|CTD-3222D19.10_ENST00000597851.1_RNA|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	246					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.F102F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGCTGACCAGGAAAGCCGAGA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	19											73	72	72					19																	16677361		2203	4300	6503	16538361	SO:0001819	synonymous_variant	79939			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.738C>T	19.37:g.16677361G>A			16538361	Q8NBQ2|Q96JV7	Silent	SNP	ENST00000595753.1	37	CCDS12346.2																																																																																				0.542	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		A	16677361	G	A	16677361	2	1	275	1	0	0	0	0	0	0	0	1	14587	1165	41	2		2	SLC35E1	19	16677361	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08	5231234	16677361	42451622	80	15427											
CLEC11A	6320	broad.mit.edu	37	19	51228594	51228594	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr19:51228594A>C	ENST00000250340.4	+	4	1039	c.842A>C	c.(841-843)cAt>cCt	p.H281P	CLEC11A_ENST00000599973.1_Silent_p.A297A	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	281	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.H281P(1)		kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCCTCGCCGCATCCGCTCAGC	0.711																																																1	Substitution - Missense(1)	ovary(1)	19											13	15	15					19																	51228594		2174	4264	6438	55920406	SO:0001583	missense	6320			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.842A>C	19.37:g.51228594A>C	ENSP00000250340:p.His281Pro		55920406	B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	37	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187390	0.38609	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.40756	1.02	4.59	2.05	0.26809	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.173882	0.27563	N	0.018817	T	0.22126	0.0533	N	0.08118	0	0.40351	D	0.979132	B	0.18461	0.028	B	0.21546	0.035	T	0.06844	-1.0804	10	0.62326	D	0.03	-27.1348	8.6452	0.34000	0.5151:0.4849:0.0:0.0	.	281	Q9Y240	CLC11_HUMAN	P	281;203	ENSP00000250340:H281P	ENSP00000250340:H281P	H	+	2	0	CLEC11A	55920406	1.000000	0.71417	0.989000	0.46669	0.452000	0.32318	1.577000	0.36515	0.669000	0.31146	0.374000	0.22700	CAT		0.711	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		C	51228594	A	C	51228594	3	2	275	1	0	0	0	0	1	0	0	0	3496	217	8	5	856	5	CLEC11A	19	51228594	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	34551233	51228594	7900389	81	15428											
ACSS1	84532	broad.mit.edu	37	20	25011592	25011592	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr20:25011592T>A	ENST00000323482.4	-	3	513	c.434A>T	c.(433-435)gAa>gTa	p.E145V	ACSS1_ENST00000537502.1_Missense_Mutation_p.E62V|ACSS1_ENST00000432802.2_Missense_Mutation_p.E145V|ACSS1_ENST00000542618.1_Missense_Mutation_p.E24V	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	145					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.E145V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCCAGTAGTTCCCTGCAGCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	20											52	44	47					20																	25011592		2203	4300	6503	24959592	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.434A>T	20.37:g.25011592T>A	ENSP00000316924:p.Glu145Val		24959592	B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735381	0.89482	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.95	5.95	0.96441	AMP-dependent synthetase/ligase (1);	0.048864	0.85682	D	0.000000	D	0.82393	0.5027	H	0.97465	4.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.85130	0.997;0.993;0.996;0.966	D	0.88560	0.3122	10	0.87932	D	0	-29.6522	15.2509	0.73545	0.0:0.0:0.0:1.0	.	145;145;145;62	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	V	145;145;62;145;24	ENSP00000316924:E145V;ENSP00000439304:E62V;ENSP00000388793:E145V;ENSP00000437657:E24V	ENSP00000316924:E145V	E	-	2	0	ACSS1	24959592	1.000000	0.71417	0.981000	0.43875	0.882000	0.50991	7.606000	0.82863	2.279000	0.76181	0.533000	0.62120	GAA		0.552	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		A	25011592	T	A	25011592	3	1	275	1	0	0	0	0	1	0	0	0	188	1783	62	5	1683	5	ACSS1	20	25011592	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08		25011592	38013928	82	15429											
ASPHD2	57168	broad.mit.edu	37	22	26829725	26829725	+	Silent	SNP	C	C	T	rs150944010		TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr22:26829725C>T	ENST00000215906.5	+	2	582	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	48					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.T22T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GCATCGCCACCGGCATCCAGT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	22						C		1,4405	2.1+/-5.4	0,1,2202	84	73	77		144	-7.2	0.9	22	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ASPHD2	NM_020437.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		48/370	26829725	1,13005	2203	4300	6503	25159725	SO:0001819	synonymous_variant	57168			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.144C>T	22.37:g.26829725C>T			25159725	B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	ENST00000215906.5	37	CCDS13834.2																																																																																				0.637	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		T	26829725	C	T	26829725	2	4	275	1	0	0	0	0	0	0	0	1	1055	639	23	1		1	ASPHD2	22	26829725	Silent	SNP	C	TCGA-24-2267-01A-01W-0799-08		26829725	24474841	83	15430											
TBC1D10A	83874	broad.mit.edu	37	22	30700527	30700527	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr22:30700527T>C	ENST00000215790.7	-	2	466	c.302A>G	c.(301-303)cAc>cGc	p.H101R	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.H13R|TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.H108R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	101					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.H101R(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACCTTTTTGTGCTTCTTGGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	22											149	107	121					22																	30700527		2203	4300	6503	29030527	SO:0001583	missense	83874			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.302A>G	22.37:g.30700527T>C	ENSP00000215790:p.His101Arg		29030527	B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431078	0.83776	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362;ENST00000393906	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.92	5.92	0.95590	Rab-GAP/TBC domain (1);	0.214341	0.47093	D	0.000257	T	0.26484	0.0647	L	0.31752	0.955	0.54753	D	0.999989	D;B;D	0.64830	0.994;0.162;0.994	P;B;P	0.58331	0.837;0.122;0.837	T	0.00958	-1.1500	10	0.44086	T	0.13	.	15.5405	0.76039	0.0:0.0:0.0:1.0	.	101;108;101	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	R	101;108;13;13	ENSP00000215790:H101R;ENSP00000384996:H108R;ENSP00000385050:H13R;ENSP00000377484:H13R	ENSP00000215790:H101R	H	-	2	0	TBC1D10A	29030527	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.247000	0.72411	2.267000	0.75376	0.383000	0.25322	CAC		0.572	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		C	30700527	T	C	30700527	3	2	275	1	0	0	0	0	1	0	0	0	15598	1696	59	4	1256	4	TBC1D10A	22	30700527	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	3870802	30700527	20604039	84	15431											
PISD	23761	broad.mit.edu	37	22	32015655	32015655	+	Silent	SNP	A	A	G	rs375120020		TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr22:32015655A>G	ENST00000439502.2	-	8	1396	c.1173T>C	c.(1171-1173)aaT>aaC	p.N391N	PISD_ENST00000266095.5_Silent_p.N357N|PISD_ENST00000382151.2_Silent_p.N357N|PISD_ENST00000397500.1_3'UTR|PISD_ENST00000336566.4_Silent_p.N390N|PISD_ENST00000478893.1_5'Flank			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	391					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)	p.N357N(1)		central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TCAGCTGGAAATTGAAGTCCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	22						A		0,4406		0,0,2203	82	79	80		1071	-0.6	0.8	22		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PISD	NM_014338.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		357/376	32015655	1,13005	2203	4300	6503	30345655	SO:0001819	synonymous_variant	23761				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.1173T>C	22.37:g.32015655A>G			30345655	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	A	8.329	0.825993	0.16749	0.0	1.16E-4	ENSG00000241878	ENST00000435900	.	.	.	5.29	-0.557	0.11800	.	.	.	.	.	T	0.50667	0.1629	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38802	-0.9644	4	.	.	.	-14.4424	5.702	0.17887	0.3774:0.0:0.4965:0.1261	.	.	.	.	T	344	.	.	I	-	2	0	PISD	30345655	1.000000	0.71417	0.762000	0.31397	0.847000	0.48162	1.177000	0.31969	-0.013000	0.14199	-0.462000	0.05337	ATT		0.547	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			G	32015655	A	G	32015655	2	3	275	1	0	0	0	0	0	0	0	1	11946	98	4	4		4	PISD	22	32015655	Silent	SNP	A	TCGA-24-2267-01A-01W-0799-08	1315128	32015655	19288911	85	15432											
TCF20	6942	broad.mit.edu	37	22	42609746	42609746	+	Silent	SNP	G	G	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chr22:42609746G>C	ENST00000359486.3	-	1	1702	c.1566C>G	c.(1564-1566)ggC>ggG	p.G522G	TCF20_ENST00000335626.4_Silent_p.G522G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G522G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGCTGGAGCAGCCTCCATCTA	0.527																																																1	Substitution - coding silent(1)	ovary(1)	22											152	160	157					22																	42609746		2203	4300	6503	40939690	SO:0001819	synonymous_variant	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1566C>G	22.37:g.42609746G>C			40939690	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.527	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		C	42609746	G	C	42609746	2	2	275	1	0	0	0	0	0	0	0	1	15690	958	34	3		3	TCF20	22	42609746	Silent	SNP	G	TCGA-24-2267-01A-01W-0799-08	10594091	42609746	8694820	86	15433											
PIR	8544	broad.mit.edu	37	X	15497905	15497905	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chrX:15497905T>C	ENST00000380421.3	-	3	596	c.136A>G	c.(136-138)Aaa>Gaa	p.K46E	BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Missense_Mutation_p.K46E	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	46					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)	p.K46E(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CTACCTCCTTTAAATTCATCA	0.338																																					Ovarian(180;1587 2015 10555 34192 51653)											1	Substitution - Missense(1)	ovary(1)	X											68	61	63					X																	15497905		2202	4299	6501	15407826	SO:0001583	missense	8544			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.136A>G	X.37:g.15497905T>C	ENSP00000369786:p.Lys46Glu		15407826	Q5U0G0|Q6FHD2	Missense_Mutation	SNP	ENST00000380421.3	37	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	t	9.071	0.996977	0.19043	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.42513	0.97;0.97	5.24	4.07	0.47477	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);Pirin, N-terminal (1);	0.484665	0.25175	N	0.032573	T	0.29126	0.0724	L	0.39514	1.22	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06232	-1.0838	10	0.10377	T	0.69	-19.0768	8.5023	0.33165	0.0:0.0943:0.0:0.9057	.	46	O00625	PIR_HUMAN	E	46	ENSP00000369785:K46E;ENSP00000369786:K46E	ENSP00000369785:K46E	K	-	1	0	PIR	15407826	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.970000	0.49240	0.643000	0.30638	-0.411000	0.06167	AAA		0.338	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		C	15497905	T	C	15497905	3	2	275	1	0	0	0	0	1	0	0	0	11944	1763	61	4	768	4	PIR	23	15497905	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08		15497905	139772655	87	15434											
DMD	1756	broad.mit.edu	37	X	31165499	31165499	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chrX:31165499G>T	ENST00000357033.4	-	75	10896	c.10690C>A	c.(10690-10692)Cta>Ata	p.L3564I	DMD_ENST00000378702.4_Missense_Mutation_p.L496I|DMD_ENST00000378677.2_Missense_Mutation_p.L3560I|DMD_ENST00000361471.4_Missense_Mutation_p.L483I|DMD_ENST00000378723.3_Missense_Mutation_p.L496I|DMD_ENST00000378680.2_Missense_Mutation_p.L386I|DMD_ENST00000343523.2_Missense_Mutation_p.L994I|DMD_ENST00000541735.1_Missense_Mutation_p.L994I|DMD_ENST00000474231.1_Missense_Mutation_p.L1104I|DMD_ENST00000378707.3_Missense_Mutation_p.L1104I|DMD_ENST00000359836.1_Missense_Mutation_p.L1091I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3564					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L1104I(1)|p.L3559I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGACGCAGTAGCTTGGCCTCA	0.567																																																2	Substitution - Missense(2)	ovary(2)	X											82	67	72					X																	31165499		2202	4300	6502	31075420	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10690C>A	X.37:g.31165499G>T	ENSP00000354923:p.Leu3564Ile		31075420	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.373322|4.373322	0.82573|0.82573	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.70749	.|1.91;3.47;-0.51;-0.51;3.44;3.41;3.38;3.39;1.9;3.43;1.93;1.84	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	.|0.000000	.|0.28533	.|U	.|0.015020	T|T	0.77974|0.77974	0.4211|0.4211	L|L	0.55213|0.55213	1.73|1.73	0.25117|0.25117	N|N	0.99067|0.99067	.|D;P;D;D;D;D;P;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.982;0.821;0.997;0.993;0.997;0.997;0.931;0.974;0.974;0.993;0.996;0.996;0.99;1.0;0.997;0.997	.|D;P;D;D;D;D;P;P;P;D;D;D;D;D;D;D	.|0.87578	.|0.952;0.672;0.978;0.987;0.991;0.991;0.747;0.841;0.841;0.952;0.978;0.979;0.979;0.998;0.926;0.978	T|T	0.67360|0.67360	-0.5690|-0.5690	5|10	.|0.24483	.|T	.|0.36	.|.	11.2207|11.2207	0.48853|0.48853	0.0906:0.0:0.9094:0.0|0.0906:0.0:0.9094:0.0	.|.	.|386;3556;3564;3560;2223;2220;1091;1104;1104;994;994;3441;483;496;483;496	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	D|I	1292|3556;2223;2220;496;1247;3560;3564;1091;994;3564;3441;1104;994;496;1104;483;386	.|ENSP00000367997:L496I;ENSP00000350765:L1247I;ENSP00000367948:L3560I;ENSP00000354923:L3564I;ENSP00000352894:L1091I;ENSP00000340057:L994I;ENSP00000367979:L1104I;ENSP00000444119:L994I;ENSP00000367974:L496I;ENSP00000417123:L1104I;ENSP00000354464:L483I;ENSP00000367951:L386I	.|ENSP00000340057:L994I	A|L	-|-	2|1	0|2	DMD|DMD	31075420|31075420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.265000|3.265000	0.51561|0.51561	2.118000|2.118000	0.64928|0.64928	0.513000|0.513000	0.50165|0.50165	GCT|CTA		0.567	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31165499	G	T	31165499	3	4	275	1	0	0	0	0	1	0	0	0	4580	962	34	3	473	3	DMD	23	31165499	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	15667594	31165499	124105061	88	15435											
XAGE5	170627	broad.mit.edu	37	X	52844155	52844155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chrX:52844155C>A	ENST00000375501.1	+	3	218	c.218C>A	c.(217-219)tCa>tAa	p.S73*	XAGE5_ENST00000351072.1_Nonsense_Mutation_p.S73*|XAGE5_ENST00000425386.1_Nonsense_Mutation_p.S73*|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375503.3_3'UTR			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	73								p.S73*(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						CTGTCTCAGTCAAAGACTGGG	0.443																																																1	Substitution - Nonsense(1)	ovary(1)	X											59	51	54					X																	52844155		2203	4297	6500	52860880	SO:0001587	stop_gained	170627			BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"cancer/testis antigen family 12, member 5"		"G antigen, family D, 5"	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.218C>A	X.37:g.52844155C>A	ENSP00000364651:p.Ser73*		52860880	Q5JS81	Nonsense_Mutation	SNP	ENST00000375501.1	37	CCDS14346.1	.	.	.	.	.	.	.	.	.	.	c	11.22	1.573150	0.28092	.	.	ENSG00000171405	ENST00000351072;ENST00000425386;ENST00000375501	.	.	.	0.785	-1.57	0.08506	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	73	.	ENSP00000342240:S73X	S	+	2	0	XAGE5	52860880	0.005000	0.15991	0.001000	0.08648	0.107000	0.19398	-0.138000	0.10374	-1.025000	0.03334	0.279000	0.19357	TCA		0.443	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1	NM_130775		A	52844155	C	A	52844155	4	1	275	1	0	0	0	0	0	1	0	0	17421	838	29	3	228	3	XAGE5	23	52844155	Nonsense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	21678656	52844155	102426405	89	15436											
NKAP	79576	broad.mit.edu	37	X	119077312	119077312	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chrX:119077312G>A	ENST00000371410.3	-	1	423	c.257C>T	c.(256-258)gCg>gTg	p.A86V		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	86	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A86V(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GCCCCGGGGCGCAGAGGGCCG	0.657																																																1	Substitution - Missense(1)	ovary(1)	X											37	38	37					X																	119077312		2203	4300	6503	118961340	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.257C>T	X.37:g.119077312G>A	ENSP00000360464:p.Ala86Val		118961340	Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	g	9.336	1.061846	0.19987	.	.	ENSG00000101882	ENST00000371410	T	0.14516	2.5	4.0	2.23	0.28157	.	1.255580	0.04976	N	0.464748	T	0.09730	0.0239	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.36768	-0.9734	10	0.27785	T	0.31	-4.866	1.713	0.02896	0.1324:0.2441:0.444:0.1794	.	86	Q8N5F7	NKAP_HUMAN	V	86	ENSP00000360464:A86V	ENSP00000360464:A86V	A	-	2	0	NKAP	118961340	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.316000	0.19469	0.488000	0.27723	0.544000	0.68410	GCG		0.657	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		A	119077312	G	A	119077312	3	1	275	1	0	0	0	0	1	0	0	0	10439	1087	38	1	1026	1	NKAP	23	119077312	Missense_Mutation	SNP	G	TCGA-24-2267-01A-01W-0799-08	66233157	119077312	36193248	90	15437											
STAG2	10735	broad.mit.edu	37	X	123200090	123200090	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chrX:123200090A>T	ENST00000371160.1	+	22	2452	c.2162A>T	c.(2161-2163)gAa>gTa	p.E721V	STAG2_ENST00000218089.9_Missense_Mutation_p.E721V|STAG2_ENST00000371157.3_Missense_Mutation_p.E721V|STAG2_ENST00000371144.3_Missense_Mutation_p.E721V|STAG2_ENST00000354548.5_Missense_Mutation_p.E652V|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.E721V	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	721					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.E721V(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ACTGGAATCGAAAATGGAGAC	0.279																																																1	Substitution - Missense(1)	ovary(1)	X											95	101	99					X																	123200090		2202	4297	6499	123027771	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2162A>T	X.37:g.123200090A>T	ENSP00000360202:p.Glu721Val		123027771	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561735	0.65538	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.76	5.76	0.90799	Armadillo-type fold (1);	0.100775	0.64402	D	0.000002	T	0.60077	0.2241	M	0.79475	2.455	0.80722	D	1	D;P	0.56035	0.974;0.849	D;B	0.63488	0.915;0.439	T	0.64672	-0.6352	10	0.66056	D	0.02	-2.2045	15.0823	0.72125	1.0:0.0:0.0:0.0	.	721;721	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	V	721;652;721;721;721;721	ENSP00000218089:E721V;ENSP00000346555:E652V;ENSP00000360202:E721V;ENSP00000360199:E721V;ENSP00000360187:E721V;ENSP00000360186:E721V	ENSP00000218089:E721V	E	+	2	0	STAG2	123027771	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	1.944000	0.56390	0.486000	0.48141	GAA		0.279	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123200090	A	T	123200090	3	4	275	1	0	0	0	0	1	0	0	0	15245	246	9	5	2240	5	STAG2	23	123200090	Missense_Mutation	SNP	A	TCGA-24-2267-01A-01W-0799-08	4122778	123200090	32070470	91	15438											
ODZ1	10178	broad.mit.edu	37	X	123775707	123775707	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chrX:123775707T>A	ENST00000371130.3	-	11	2074	c.2011A>T	c.(2011-2013)Act>Tct	p.T671S	TENM1_ENST00000422452.2_Missense_Mutation_p.T671S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	671	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T673S(1)									AGAAGAAAAGTTCCGTGTCCT	0.478																																																1	Substitution - Missense(1)	ovary(1)	X											243	207	220					X																	123775707		2203	4300	6503	123603388	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2011A>T	X.37:g.123775707T>A	ENSP00000360171:p.Thr671Ser		123603388	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973607	0.74246	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.65732	-0.17;-0.17	5.33	5.33	0.75918	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.76586	0.4008	M	0.66939	2.045	0.51482	D	0.999929	D;D;B	0.76494	0.997;0.999;0.374	D;D;B	0.73380	0.97;0.98;0.131	T	0.78560	-0.2157	10	0.56958	D	0.05	.	14.3976	0.67022	0.0:0.0:0.0:1.0	.	670;671;671	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	671	ENSP00000360171:T671S;ENSP00000403954:T671S	ENSP00000360171:T671S	T	-	1	0	ODZ1	123603388	0.980000	0.34600	0.995000	0.50966	0.985000	0.73830	1.987000	0.40687	1.780000	0.52325	0.486000	0.48141	ACT		0.478	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123775707	T	A	123775707	3	1	275	1	0	0	0	0	1	0	0	0	10834	1725	60	5	6275	5	ODZ1	23	123775707	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	575617	123775707	31494853	92	15439											
GPR112	139378	broad.mit.edu	37	X	135485439	135485439	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chrX:135485439T>G	ENST00000394143.1	+	22	8903	c.8612T>G	c.(8611-8613)gTg>gGg	p.V2871G	GPR112_ENST00000370652.1_Missense_Mutation_p.V2871G|GPR112_ENST00000394141.1_Missense_Mutation_p.V2666G|GPR112_ENST00000287534.4_Missense_Mutation_p.V2624G|GPR112_ENST00000412101.1_Missense_Mutation_p.V2666G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2871					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V2871G(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAGTCAGTGTGAAAAAAGAT	0.498																																																1	Substitution - Missense(1)	ovary(1)	X											139	96	111					X																	135485439		2203	4300	6503	135313105	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8612T>G	X.37:g.135485439T>G	ENSP00000377699:p.Val2871Gly		135313105	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.353236	0.61293	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.67	5.67	0.87782	GPCR, family 2-like (1);	.	.	.	.	T	0.66416	0.2787	M	0.79123	2.44	0.47737	D	0.999505	D;P	0.71674	0.998;0.904	P;P	0.62813	0.907;0.877	T	0.71388	-0.4608	9	0.87932	D	0	.	12.8415	0.57805	0.0:0.0:0.0:1.0	.	2666;2871	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	G	2871;2871;2666;2624;2666	ENSP00000377699:V2871G;ENSP00000359686:V2871G;ENSP00000416526:V2666G;ENSP00000287534:V2624G;ENSP00000377697:V2666G	ENSP00000287534:V2624G	V	+	2	0	GPR112	135313105	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.596000	0.61055	2.009000	0.58944	0.486000	0.48141	GTG		0.498	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			G	135485439	T	G	135485439	3	3	275	1	0	0	0	0	1	0	0	0	6629	1696	59	5	8686	5	GPR112	23	135485439	Missense_Mutation	SNP	T	TCGA-24-2267-01A-01W-0799-08	11709732	135485439	19785121	93	15440											
ATP11C	286410	broad.mit.edu	37	X	138901496	138901496	+	Splice_Site	SNP	C	C	T			TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chrX:138901496C>T	ENST00000327569.3	-	3	345		c.e3+1		ATP11C_ENST00000361648.2_Splice_Site|ATP11C_ENST00000370557.1_Splice_Site|ATP11C_ENST00000359686.2_Splice_Site|ATP11C_ENST00000370543.1_Splice_Site	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C						ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GGAGCTCTTACCTGTACAAGG	0.294																																																1	Unknown(1)	ovary(1)	X											26	29	28					X																	138901496		2198	4276	6474	138729162	SO:0001630	splice_region_variant	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.246+1G>A	X.37:g.138901496C>T			138729162	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Splice_Site	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979809	0.74360	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9685	0.71213	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP11C	138729162	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.969000	0.76092	2.415000	0.81967	0.600000	0.82982	.		0.294	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	Intron	T	138901496	C	T	138901496	5	4	275	1	0	0	0	0	0	0	1	0	1121	521	18	2	3326	2	ATP11C	23	138901496	Splice_Site	SNP	C	TCGA-24-2267-01A-01W-0799-08	3416057	138901496	16369064	94	15441											
G6PD	2539	broad.mit.edu	37	X	153760891	153760891	+	Missense_Mutation	SNP	C	C	A	rs137852316		TCGA-24-2267-01A-01W-0799-08	TCGA-24-2267-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0b29bb50-e146-4d0a-95ce-95d1ee11cad6	32153edc-99a2-41c5-812c-1ea81d33cf57	g.chrX:153760891C>A	ENST00000393564.2	-	10	1290	c.1178G>T	c.(1177-1179)cGc>cTc	p.R393L	G6PD_ENST00000393562.2_Missense_Mutation_p.R423L|G6PD_ENST00000369620.2_Missense_Mutation_p.R439L|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	393			R -> H (in Nashville/Anaheim; class I). {ECO:0000269|PubMed:1536798}.		carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.R393L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCTGCACGCGGATCACCAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	X	GRCh37	CM910161	G6PD	M	rs137852316						75	64	68					X																	153760891		2203	4300	6503	153414085	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1178G>T	X.37:g.153760891C>A	ENSP00000377194:p.Arg393Leu		153414085	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076046	0.76415	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99836	-7.05;-7.05;-7.05	5.82	5.82	0.92795	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.96596	0.9441	10	0.87932	D	0	.	16.3143	0.82909	0.0:1.0:0.0:0.0	.	393;423	P11413;P11413-3	G6PD_HUMAN;.	L	423;393;393;439	ENSP00000377192:R423L;ENSP00000377194:R393L;ENSP00000358633:R439L	ENSP00000291567:R393L	R	-	2	0	G6PD	153414085	1.000000	0.71417	0.992000	0.48379	0.295000	0.27426	7.279000	0.78599	2.457000	0.83068	0.597000	0.82753	CGC		0.612	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		A	153760891	C	A	153760891	3	1	275	1	0	0	0	0	1	0	0	0	6146	768	27	3	385	3	G6PD	23	153760891	Missense_Mutation	SNP	C	TCGA-24-2267-01A-01W-0799-08	14859395	153760891	1509669	95	15442											
COL11A1	1301	broad.mit.edu	37	1	103470190	103470190	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr1:103470190C>T	ENST00000370096.3	-	19	2185	c.1873G>A	c.(1873-1875)Ggt>Agt	p.G625S	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Missense_Mutation_p.G637S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G509S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G586S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	625	Collagen-like 3.|Collagen-like 4.|Triple-helical region.		G -> V (in STL2). {ECO:0000269|PubMed:8872475}.		cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G637S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGAGGACCTGGAGGACCT	0.323																																																1	Substitution - Missense(1)	ovary(1)	1											40	37	38					1																	103470190		2203	4300	6503	103242778	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1873G>A	1.37:g.103470190C>T	ENSP00000359114:p.Gly625Ser		103242778	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990652	0.93106	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.83	4.92	0.64577	.	0.052522	0.85682	N	0.000000	D	0.99492	0.9819	H	0.99650	4.68	0.80722	D	1	B;B;B;B	0.32245	0.106;0.087;0.361;0.234	B;B;B;B	0.31946	0.084;0.05;0.138;0.119	D	0.97964	1.0339	10	0.87932	D	0	.	14.9259	0.70878	0.0:0.9315:0.0:0.0685	.	509;586;637;625	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	625;637;586;509	ENSP00000359114:G625S;ENSP00000351163:G637S;ENSP00000302551:G586S;ENSP00000426533:G509S	ENSP00000302551:G586S	G	-	1	0	COL11A1	103242778	1.000000	0.71417	0.648000	0.29521	0.996000	0.88848	5.090000	0.64498	1.468000	0.48064	0.655000	0.94253	GGT		0.323	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103470190	C	T	103470190	3	4	276	1	0	0	0	0	1	0	0	0	3667	681	24	2	3743	2	COL11A1	1	103470190	Missense_Mutation	SNP	C	TCGA-24-2271-01A-01W-0799-08		103470190	145780431	1	15443											
TDRD5	163589	broad.mit.edu	37	1	179609181	179609181	+	Silent	SNP	C	C	T			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr1:179609181C>T	ENST00000367614.1	+	10	2087	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	TDRD5_ENST00000444136.1_Silent_p.F576F|TDRD5_ENST00000294848.8_Silent_p.F576F	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	576	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.F576F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCCTGAGGTTCCTCAAGTGAG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	1											118	116	117					1																	179609181		2203	4300	6503	177875804	SO:0001819	synonymous_variant	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1728C>T	1.37:g.179609181C>T			177875804	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	CCDS1332.1																																																																																				0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		T	179609181	C	T	179609181	2	4	276	1	0	0	0	0	0	0	0	1	15733	854	30	2		2	TDRD5	1	179609181	Silent	SNP	C	TCGA-24-2271-01A-01W-0799-08	76138991	179609181	69641440	2	15444											
TPR	7175	broad.mit.edu	37	1	186312598	186312598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr1:186312598G>A	ENST00000367478.4	-	27	3906	c.3610C>T	c.(3610-3612)Cga>Tga	p.R1204*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1204					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.R1205*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTTCTCGTCGTATAAATCTA	0.333			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	1	Substitution - Nonsense(1)	ovary(1)	1											63	59	60					1																	186312598		1851	4093	5944	184579221	SO:0001587	stop_gained	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3610C>T	1.37:g.186312598G>A	ENSP00000356448:p.Arg1204*		184579221	Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	45	11.910955	0.99616	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.07	5.07	0.68467	.	0.124249	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4489	0.90696	0.0:0.0:1.0:0.0	.	.	.	.	X	1204	.	ENSP00000356448:R1204X	R	-	1	2	TPR	184579221	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.644000	0.83416	2.372000	0.80975	0.561000	0.74099	CGA		0.333	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		A	186312598	G	A	186312598	4	1	276	1	0	0	0	0	0	1	0	0	16416	1153	40	1	3581	1	TPR	1	186312598	Nonsense_Mutation	SNP	G	TCGA-24-2271-01A-01W-0799-08	6703417	186312598	62938023	3	15445											
CNTNAP5	129684	broad.mit.edu	37	2	125521567	125521567	+	Silent	SNP	C	C	T	rs566175180		TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr2:125521567C>T	ENST00000431078.1	+	16	2737	c.2373C>T	c.(2371-2373)aaC>aaT	p.N791N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	791	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.N791N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTTCTGGAACGCCGTCTCAT	0.413													C|||	1	0.000199681	8e-04	0	5008	,	,		18170	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2											124	118	120					2																	125521567		1883	4093	5976	125238037	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2373C>T	2.37:g.125521567C>T			125238037	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125521567	C	T	125521567	2	4	276	1	0	0	0	0	0	0	0	1	3650	535	19	1		1	CNTNAP5	2	125521567	Silent	SNP	C	TCGA-24-2271-01A-01W-0799-08		125521567	117677806	4	15446											
SCN7A	6332	broad.mit.edu	37	2	167262119	167262119	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr2:167262119C>T	ENST00000409855.1	-	25	5146	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1674					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E1674K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GGTGACTTTTCCTTAGCTTTG	0.353																																																1	Substitution - Missense(1)	ovary(1)	2											244	230	234					2																	167262119		1846	4097	5943	166970365	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.5020G>A	2.37:g.167262119C>T	ENSP00000386796:p.Glu1674Lys		166970365		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115764	0.77323	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96774	-4.12	4.75	4.75	0.60458	.	0.521196	0.17591	N	0.168756	D	0.92077	0.7489	N	0.22421	0.69	0.39221	D	0.963505	P	0.39060	0.657	B	0.35182	0.197	D	0.93094	0.6502	10	0.54805	T	0.06	.	15.1315	0.72527	0.0:1.0:0.0:0.0	.	1674	Q01118	SCN7A_HUMAN	K	1674	ENSP00000386796:E1674K	ENSP00000259060:E1674K	E	-	1	0	SCN7A	166970365	0.639000	0.27234	0.220000	0.23810	0.217000	0.24651	2.927000	0.48900	2.630000	0.89119	0.655000	0.94253	GAA		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			T	167262119	C	T	167262119	3	4	276	1	0	0	0	0	1	0	0	0	13926	864	30	2	32	2	SCN7A	2	167262119	Missense_Mutation	SNP	C	TCGA-24-2271-01A-01W-0799-08	41740552	167262119	75937254	5	15447											
C7	730	broad.mit.edu	37	5	40981517	40981517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr5:40981517C>T	ENST00000313164.9	+	18	2733	c.2374C>T	c.(2374-2376)Cga>Tga	p.R792*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	792	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.R792*(1)					Ovarian(839;0.0112)				ATGTGTCTGCCGAGAAGCATC	0.502																																																1	Substitution - Nonsense(1)	ovary(1)	5											54	55	54					5																	40981517		2070	4203	6273	41017274	SO:0001587	stop_gained	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2374C>T	5.37:g.40981517C>T	ENSP00000322061:p.Arg792*		41017274	Q6P3T5|Q92489	Nonsense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	42	9.517932	0.99193	.	.	ENSG00000112936	ENST00000313164	.	.	.	5.83	1.47	0.22746	.	0.462043	0.21307	N	0.076703	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0824	9.8439	0.41015	0.4699:0.381:0.149:0.0	.	.	.	.	X	792	.	ENSP00000322061:R792X	R	+	1	2	C7	41017274	0.896000	0.30565	0.996000	0.52242	0.982000	0.71751	0.108000	0.15396	0.241000	0.21283	0.563000	0.77884	CGA		0.502	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			T	40981517	C	T	40981517	4	4	276	1	0	0	0	0	0	1	0	0	2375	644	23	1	2444	1	C7	5	40981517	Nonsense_Mutation	SNP	C	TCGA-24-2271-01A-01W-0799-08		40981517	139933743	6	15448											
CCL28	56477	broad.mit.edu	37	5	43381982	43381982	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr5:43381982C>T	ENST00000361115.4	-	3	438	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	CCL28_ENST00000513525.1_Missense_Mutation_p.G75S	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	122					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)	p.G122S(1)		kidney(3)|lung(3)|ovary(1)	7						GTTTTATGGCCGTATGTTTCG	0.413																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)											1	Substitution - Missense(1)	ovary(1)	5											291	264	273					5																	43381982		2203	4300	6503	43417739	SO:0001583	missense	56477			AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"Chemokine ligands", "Endogenous ligands"	17700	protein-coding gene	gene with protein product	"CC chemokine CCL28", "mucosae-associated epithelial chemokine", "small inducible cytokine subfamily A (Cys-Cys), member 28", "small inducible cytokine A28"	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.364G>A	5.37:g.43381982C>T	ENSP00000354416:p.Gly122Ser		43417739	D7RIE7	Missense_Mutation	SNP	ENST00000361115.4	37	CCDS3944.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605969	0.28623	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.45668	1.39;0.89	4.99	2.2	0.27929	.	1.281610	0.05413	N	0.542883	T	0.21881	0.0527	N	0.12182	0.205	0.09310	N	1	P	0.38195	0.622	B	0.24848	0.056	T	0.16070	-1.0415	10	0.34782	T	0.22	-0.5687	7.5798	0.27959	0.0:0.7291:0.0:0.2709	.	122	Q9NRJ3	CCL28_HUMAN	S	122;75	ENSP00000354416:G122S;ENSP00000422369:G75S	ENSP00000354416:G122S	G	-	1	0	CCL28	43417739	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.126000	0.10563	0.359000	0.24239	-0.145000	0.13849	GGC		0.413	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		T	43381982	C	T	43381982	3	4	276	1	0	0	0	0	1	0	0	0	2900	652	23	1	23	1	CCL28	5	43381982	Missense_Mutation	SNP	C	TCGA-24-2271-01A-01W-0799-08	2400465	43381982	137533278	7	15449											
PPP2CA	5515	broad.mit.edu	37	5	133541780	133541780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr5:133541780G>A	ENST00000481195.1	-	2	425	c.145C>T	c.(145-147)Cga>Tga	p.R49*	CDKL3_ENST00000609383.1_3'UTR|CTD-2410N18.4_ENST00000518409.1_RNA|CTD-2410N18.5_ENST00000519718.1_Intron|CDKL3_ENST00000609654.1_Nonsense_Mutation_p.R399*|PPP2CA_ENST00000231504.5_5'UTR	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	49					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R49*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	ACTGGACATCGAACCTCTTGC	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	5											154	136	142					5																	133541780		2203	4300	6503	133569679	SO:0001587	stop_gained	5515				CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9299	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, alpha isoform"	176915	"protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.145C>T	5.37:g.133541780G>A	ENSP00000418447:p.Arg49*		133569679	P05323|P13197	Nonsense_Mutation	SNP	ENST00000481195.1	37	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	G	37	6.174370	0.97348	.	.	ENSG00000113575	ENST00000481195;ENST00000523082	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-3.2523	19.3944	0.94601	0.0:0.0:1.0:0.0	.	.	.	.	X	49;36	.	ENSP00000418447:R49X	R	-	1	2	PPP2CA	133569679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.333000	0.72939	2.665000	0.90641	0.591000	0.81541	CGA		0.378	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		A	133541780	G	A	133541780	4	1	276	1	0	0	0	0	0	1	0	0	12383	1066	37	1	808	1	PPP2CA	5	133541780	Nonsense_Mutation	SNP	G	TCGA-24-2271-01A-01W-0799-08	90159798	133541780	47373480	8	15450											
CTSL1	1514	broad.mit.edu	37	9	90343265	90343265	+	Frame_Shift_Del	DEL	C	C	-	rs76801214	byFrequency	TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	-	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr9:90343265delC	ENST00000343150.5	+	4	1240	c.350delC	c.(349-351)tctfs	p.S117fs	CTSL_ENST00000340342.6_Frame_Shift_Del_p.S117fs|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Frame_Shift_Del_p.S117fs			P07711	CATL1_HUMAN	cathepsin L	117					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.S117fs*10(1)									GCCCCCAGATCTGTGGATTGG	0.498																																																1	Deletion - Frameshift(1)	ovary(1)	9											65	62	63					9																	90343265		2203	4300	6503	89533085	SO:0001589	frameshift_variant	1514			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.350delC	9.37:g.90343265delC	ENSP00000345344:p.Ser117fs		89533085	Q6IAV1|Q96QJ0	Frame_Shift_Del	DEL	ENST00000343150.5	37	CCDS6675.1																																																																																				0.498	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		-	90343265	C	-	90343265	7	5	276	1	0	1	0	1	0	0	0	0	4038	913	32	0	360	0	CTSL1	9	90343265	Frame_Shift_Del	DEL	C	TCGA-24-2271-01A-01W-0799-08		90343265	50870166	9	15451											
ASTN2	23245	broad.mit.edu	37	9	119976858	119976858	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr9:119976858C>T	ENST00000313400.4	-	3	894	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	ASTN2_ENST00000373996.3_Missense_Mutation_p.R265Q|ASTN2_ENST00000361209.2_Missense_Mutation_p.R265Q|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	265					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R265Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCTCTCCCGCGCCTGGGG	0.597																																																1	Substitution - Missense(1)	ovary(1)	9											84	75	78					9																	119976858		2203	4300	6503	119016679	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.794G>A	9.37:g.119976858C>T	ENSP00000314038:p.Arg265Gln		119016679	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	18.17	3.565489	0.65651	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.24350	2.03;2.02;1.86	5.51	4.6	0.57074	.	0.081526	0.49305	D	0.000150	T	0.36248	0.0960	N	0.24115	0.695	0.44117	D	0.99689	D;D;D	0.89917	0.999;0.996;1.0	D;P;D	0.77557	0.99;0.575;0.968	T	0.10776	-1.0615	9	.	.	.	-19.6359	15.8965	0.79338	0.0:0.864:0.136:0.0	.	265;265;265	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Q	265	ENSP00000314038:R265Q;ENSP00000363108:R265Q;ENSP00000354504:R265Q	.	R	-	2	0	ASTN2	119016679	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.867000	0.69597	1.298000	0.44778	0.655000	0.94253	CGG		0.597	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		T	119976858	C	T	119976858	3	4	276	1	0	0	0	0	1	0	0	0	1065	652	23	1	3384	1	ASTN2	9	119976858	Missense_Mutation	SNP	C	TCGA-24-2271-01A-01W-0799-08	29633593	119976858	21236573	10	15452											
C12orf40	283461	broad.mit.edu	37	12	40076668	40076668	+	Silent	SNP	G	G	A			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr12:40076668G>A	ENST00000324616.5	+	8	1096	c.942G>A	c.(940-942)agG>agA	p.R314R	C12orf40_ENST00000405531.3_Silent_p.R314R|C12orf40_ENST00000398716.1_Silent_p.R237R	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	314								p.R314R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGAGCAAAGGATAAAGAAAA	0.328																																																1	Substitution - coding silent(1)	ovary(1)	12											101	96	98					12																	40076668		1863	4090	5953	38362935	SO:0001819	synonymous_variant	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.942G>A	12.37:g.40076668G>A			38362935	B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	CCDS41770.1																																																																																				0.328	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		A	40076668	G	A	40076668	2	1	276	1	0	0	0	0	0	0	0	1	1686	1165	41	2		2	C12orf40	12	40076668	Silent	SNP	G	TCGA-24-2271-01A-01W-0799-08		40076668	93775227	11	15453											
TP53	7157	broad.mit.edu	37	17	7576885	7576885	+	Nonsense_Mutation	SNP	T	T	A			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr17:7576885T>A	ENST00000269305.4	-	9	1150	c.961A>T	c.(961-963)Aaa>Taa	p.K321*	TP53_ENST00000445888.2_Nonsense_Mutation_p.K321*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K321*|TP53_ENST00000455263.2_Nonsense_Mutation_p.K321*|TP53_ENST00000420246.2_Nonsense_Mutation_p.K321*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	321	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.K321fs*24(3)|p.P318fs*15(2)|p.K321*(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.L308fs*15(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)	TCCAGTGGTTTCTTCTTTGGC	0.458		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"	19	Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Nonsense(2)|Unknown(1)	bone(4)|breast(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|stomach(1)|soft_tissue(1)|endometrium(1)|lung(1)	17											129	119	122					17																	7576885		2203	4300	6503	7517610	SO:0001587	stop_gained	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.961A>T	17.37:g.7576885T>A	ENSP00000269305:p.Lys321*		7517610	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	6.314282|6.314282	0.97467|0.97467	.|.	.|.	ENSG00000141510|ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690|ENST00000419024	.|.	.|.	.|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.806142|.	0.11658|.	N|.	0.542146|.	.|T	.|0.65523	.|0.2699	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77000	.|-0.2750	.|4	0.02654|0.87932	T|D	1|0	-22.8989|-22.8989	10.7895|10.7895	0.46424|0.46424	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|S	321;321;321;321;321;310;189|7	.|.	ENSP00000269305:K321X|ENSP00000402130:R7S	K|R	-|-	1|3	0|2	TP53|TP53	7517610|7517610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	3.768000|3.768000	0.55295|0.55295	2.030000|2.030000	0.59900|0.59900	0.459000|0.459000	0.35465|0.35465	AAA|AGA		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7576885	T	A	7576885	4	1	276	1	0	0	0	0	0	1	0	0	16381	1792	62	5	321	5	TP53	17	7576885	Nonsense_Mutation	SNP	T	TCGA-24-2271-01A-01W-0799-08		7576885	73618325	12	15454											
CARD14	79092	broad.mit.edu	37	17	78169003	78169003	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr17:78169003C>T	ENST00000573882.1	+	12	1906	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.S457L|CARD14_ENST00000392434.2_Missense_Mutation_p.S220L|CARD14_ENST00000570421.1_Missense_Mutation_p.S457L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	457					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)	p.S457L(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGCTCTTGTCGGACCTGAGT	0.677																																																1	Substitution - Missense(1)	ovary(1)	17											44	42	43					17																	78169003		2203	4300	6503	75783598	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1370C>T	17.37:g.78169003C>T	ENSP00000458715:p.Ser457Leu		75783598	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	6.016	0.371343	0.11409	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.36878	1.23;1.23	4.55	2.56	0.30785	.	1.811070	0.02701	N	0.111750	T	0.33585	0.0868	L	0.51422	1.61	0.09310	N	1	B;B;B	0.18013	0.004;0.025;0.002	B;B;B	0.09377	0.001;0.004;0.001	T	0.15549	-1.0433	10	0.21014	T	0.42	-3.8235	6.8276	0.23893	0.0:0.6697:0.2248:0.1055	.	457;220;457	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	L	457;220;220	ENSP00000344549:S457L;ENSP00000376229:S220L	ENSP00000308507:S220L	S	+	2	0	CARD14	75783598	0.952000	0.32445	0.007000	0.13788	0.006000	0.05464	2.327000	0.43858	0.556000	0.29098	0.650000	0.86243	TCG		0.677	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			T	78169003	C	T	78169003	3	4	276	1	0	0	0	0	1	0	0	0	2646	893	31	1	1404	1	CARD14	17	78169003	Missense_Mutation	SNP	C	TCGA-24-2271-01A-01W-0799-08	70592118	78169003	3026207	13	15455											
CD22	933	broad.mit.edu	37	19	35828818	35828818	+	Silent	SNP	G	G	A			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr19:35828818G>A	ENST00000085219.5	+	5	945	c.879G>A	c.(877-879)acG>acA	p.T293T	CD22_ENST00000419549.2_Silent_p.T121T|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Silent_p.T293T|CD22_ENST00000594250.1_Intron|CD22_ENST00000270311.6_Silent_p.T173T|CD22_ENST00000536635.2_Silent_p.T293T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	293	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.T293T(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATACATTCACGCTAAACCTGC	0.567																																					Ovarian(42;1009 1133 23674 26041)											1	Substitution - coding silent(1)	ovary(1)	19											111	77	88					19																	35828818		2203	4300	6503	40520658	SO:0001819	synonymous_variant	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.879G>A	19.37:g.35828818G>A			40520658	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	CCDS12457.1																																																																																				0.567	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		A	35828818	G	A	35828818	2	1	276	1	0	0	0	0	0	0	0	1	2985	1074	38	1		1	CD22	19	35828818	Silent	SNP	G	TCGA-24-2271-01A-01W-0799-08		35828818	23300165	14	15456											
ZNF227	7770	broad.mit.edu	37	19	44739757	44739757	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr19:44739757A>G	ENST00000313040.7	+	6	1379	c.1174A>G	c.(1174-1176)Agt>Ggt	p.S392G	ZNF227_ENST00000391961.2_Missense_Mutation_p.S341G|ZNF227_ENST00000589005.1_Missense_Mutation_p.S341G	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	392					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.S392G(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CTTCGGTTGGAGTGTTAATCT	0.448																																																1	Substitution - Missense(1)	ovary(1)	19											87	95	93					19																	44739757		2203	4300	6503	49431597	SO:0001583	missense	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1174A>G	19.37:g.44739757A>G	ENSP00000321049:p.Ser392Gly		49431597	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701403	0.48307	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.16324	2.35;2.87	4.54	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	M	0.79343	2.45	0.09310	N	0.999996	B;B;B;B	0.33807	0.117;0.117;0.426;0.117	B;B;B;B	0.24701	0.007;0.015;0.055;0.015	T	0.15780	-1.0425	9	0.30854	T	0.27	.	6.1318	0.20209	0.7455:0.1651:0.0895:0.0	.	313;371;344;392	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	G	392;349;341;371;93	ENSP00000321049:S392G;ENSP00000375823:S341G	ENSP00000321049:S392G	S	+	1	0	ZNF227	49431597	0.000000	0.05858	0.998000	0.56505	0.983000	0.72400	0.130000	0.15850	0.659000	0.30945	0.460000	0.39030	AGT		0.448	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		G	44739757	A	G	44739757	3	3	276	1	0	0	0	0	1	0	0	0	17781	304	11	4	1188	4	ZNF227	19	44739757	Missense_Mutation	SNP	A	TCGA-24-2271-01A-01W-0799-08	8910939	44739757	14389226	15	15457											
SIGLEC11	114132	broad.mit.edu	37	19	50462666	50462666	+	Silent	SNP	C	C	T			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr19:50462666C>T	ENST00000447370.2	-	5	1098	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Silent_p.A336A	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	336	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A324A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCCTGTTCTCCGCTCGGCAGG	0.662																																																1	Substitution - coding silent(1)	ovary(1)	19											29	45	40					19																	50462666		1957	4292	6249	55154478	SO:0001819	synonymous_variant	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1008G>A	19.37:g.50462666C>T			55154478		Silent	SNP	ENST00000447370.2	37	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	0.258	-1.001602	0.02128	.	.	ENSG00000161640	ENST00000426971	.	.	.	1.61	-3.23	0.05109	.	.	.	.	.	T	0.49508	0.1561	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.41858	-0.9485	4	.	.	.	.	6.2332	0.20747	0.0:0.5744:0.0:0.4256	.	.	.	.	Q	326	.	.	R	-	2	0	SIGLEC11	55154478	0.000000	0.05858	0.769000	0.31535	0.031000	0.12232	-3.504000	0.00449	-0.896000	0.03915	-1.219000	0.01604	CGG		0.662	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		T	50462666	C	T	50462666	2	4	276	1	0	0	0	0	0	0	0	1	14310	639	23	1		1	SIGLEC11	19	50462666	Silent	SNP	C	TCGA-24-2271-01A-01W-0799-08	5722909	50462666	8666317	16	15458											
STX16	8675	broad.mit.edu	37	20	57251255	57251255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr20:57251255C>T	ENST00000371141.4	+	9	1610	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000371132.4_Nonsense_Mutation_p.Q275*|STX16_ENST00000358029.4_Nonsense_Mutation_p.Q292*|STX16_ENST00000361830.3_Nonsense_Mutation_p.Q296*|STX16_ENST00000361770.5_Nonsense_Mutation_p.Q279*|STX16_ENST00000355957.5_Nonsense_Mutation_p.Q279*|STX16_ENST00000359617.4_Nonsense_Mutation_p.Q243*	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	296					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.Q275*(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			AGAACAGTATCAAAAGAAGAA	0.413																																																1	Substitution - Nonsense(1)	ovary(1)	20											201	200	200					20																	57251255		2203	4300	6503	56684661	SO:0001587	stop_gained	8675			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.886C>T	20.37:g.57251255C>T	ENSP00000360183:p.Gln296*		56684661	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Nonsense_Mutation	SNP	ENST00000371141.4	37	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	C	44	10.548866	0.99425	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.2859	0.94069	0.0:1.0:0.0:0.0	.	.	.	.	X	279;279;243;296;243;275;292;296;190;110	.	ENSP00000360180:Q243X	Q	+	1	0	STX16	56684661	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.784000	0.75084	2.873000	0.98535	0.563000	0.77884	CAA		0.413	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		T	57251255	C	T	57251255	4	4	276	1	0	0	0	0	0	1	0	0	15341	827	29	2	920	2	STX16	20	57251255	Nonsense_Mutation	SNP	C	TCGA-24-2271-01A-01W-0799-08		57251255	5774265	17	15459											
PPM1F	9647	broad.mit.edu	37	22	22285650	22285650	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chr22:22285650C>A	ENST00000263212.5	-	6	866	c.761G>T	c.(760-762)gGc>gTc	p.G254V	PPM1F_ENST00000397495.4_Missense_Mutation_p.G254V|PPM1F_ENST00000407142.1_Missense_Mutation_p.G86V|PPM1F_ENST00000538191.1_Missense_Mutation_p.G150V	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	254					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)	p.G254V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		ACCTGTGGTGCCGCTCTGCAG	0.627																																																1	Substitution - Missense(1)	ovary(1)	22											40	33	36					22																	22285650		2203	4300	6503	20615650	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.761G>T	22.37:g.22285650C>A	ENSP00000263212:p.Gly254Val		20615650	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225093	0.95173	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495;ENST00000445205	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.84	4.84	0.62591	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92947	0.6377	10	0.87932	D	0	-28.1433	18.5176	0.90941	0.0:1.0:0.0:0.0	.	150;254;254	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	V	254;86;86;150;254;86	ENSP00000263212:G254V;ENSP00000384930:G86V;ENSP00000439915:G150V;ENSP00000380632:G254V;ENSP00000392372:G86V	ENSP00000263212:G254V	G	-	2	0	PPM1F	20615650	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	7.567000	0.82357	2.700000	0.92200	0.561000	0.74099	GGC		0.627	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		A	22285650	C	A	22285650	3	1	276	1	0	0	0	0	1	0	0	0	12342	739	26	3	615	3	PPM1F	22	22285650	Missense_Mutation	SNP	C	TCGA-24-2271-01A-01W-0799-08		22285650	29018916	18	15460											
TEX13A	56157	broad.mit.edu	37	X	104464292	104464292	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2271-01A-01W-0799-08	TCGA-24-2271-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	42836db7-656d-43d6-a100-3f134642db36	5be0af72-07fd-4531-a2c1-606754f9445c	g.chrX:104464292C>G	ENST00000413579.1	-	3	697	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	TEX13A_ENST00000372578.3_Missense_Mutation_p.E196Q|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E196Q|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	196							zinc ion binding (GO:0008270)	p.E196Q(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCTCTGCTCTTCTTCTGCT	0.652																																																1	Substitution - Missense(1)	ovary(1)	X											23	26	25					X																	104464292		2092	4131	6223	104350948	SO:0001583	missense	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.586G>C	X.37:g.104464292C>G	ENSP00000399753:p.Glu196Gln		104350948	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	0.013	-1.622647	0.00820	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	1.69	-3.39	0.04868	.	1.807170	0.03666	N	0.243298	T	0.27134	0.0665	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.07966	-1.0745	8	0.34782	T	0.22	.	3.9763	0.09476	0.0:0.3334:0.3416:0.325	.	196;196	C9JWK0;Q9BXU3	.;TX13A_HUMAN	Q	196	.	ENSP00000361656:E196Q	E	-	1	0	TEX13A	104350948	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.013000	0.03645	-2.080000	0.00870	-0.735000	0.03563	GAG		0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		G	104464292	C	G	104464292	3	3	276	1	0	0	0	0	1	0	0	0	15776	922	32	3	649	3	TEX13A	23	104464292	Missense_Mutation	SNP	C	TCGA-24-2271-01A-01W-0799-08		104464292	50806268	19	15461											
ANKRD35	148741	broad.mit.edu	37	1	145563050	145563050	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2280-01A-01W-0799-08	TCGA-24-2280-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	aa3a523c-50f1-4aaf-ae8a-23867be79a25	be0c1219-e177-4895-882f-607261fe4741	g.chr1:145563050A>T	ENST00000355594.4	+	10	2825	c.2738A>T	c.(2737-2739)aAa>aTa	p.K913I		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	913								p.K913I(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCTGCTGAAAGAGAAGATG	0.607																																					Melanoma(9;127 754 22988 51047)											1	Substitution - Missense(1)	ovary(1)	1											31	34	33					1																	145563050		2202	4298	6500	144274407	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2738A>T	1.37:g.145563050A>T	ENSP00000347802:p.Lys913Ile		144274407	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892184	0.52014	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.69175	-0.38	5.49	1.78	0.24846	.	0.231996	0.30109	N	0.010387	T	0.50171	0.1600	M	0.73598	2.24	0.09310	N	0.999996	P	0.46395	0.877	P	0.45037	0.467	T	0.49457	-0.8938	10	0.72032	D	0.01	-5.1634	6.8152	0.23826	0.708:0.0:0.292:0.0	.	913	Q8N283	ANR35_HUMAN	I	822;913	ENSP00000347802:K913I	ENSP00000347802:K913I	K	+	2	0	ANKRD35	144274407	0.001000	0.12720	0.001000	0.08648	0.887000	0.51463	0.227000	0.17795	0.137000	0.18759	0.528000	0.53228	AAA		0.607	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		T	145563050	A	T	145563050	3	4	277	1	0	0	0	0	1	0	0	0	664	14	1	5	2776	5	ANKRD35	1	145563050	Missense_Mutation	SNP	A	TCGA-24-2280-01A-01W-0799-08		145563050	103687571	1	15462											
FCRL5	83416	broad.mit.edu	37	1	157508937	157508937	+	Silent	SNP	G	G	A			TCGA-24-2280-01A-01W-0799-08	TCGA-24-2280-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	aa3a523c-50f1-4aaf-ae8a-23867be79a25	be0c1219-e177-4895-882f-607261fe4741	g.chr1:157508937G>A	ENST00000361835.3	-	7	1498	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	FCRL5_ENST00000356953.4_Silent_p.Y447Y|FCRL5_ENST00000368191.3_Silent_p.Y362Y|FCRL5_ENST00000368190.3_Silent_p.Y447Y|FCRL5_ENST00000368189.3_Silent_p.Y447Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	447	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.Y447Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGCTGTGCAGTAGTAGTTCC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	1											68	58	61					1																	157508937		2203	4300	6503	155775561	SO:0001819	synonymous_variant	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1341C>T	1.37:g.157508937G>A			155775561	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	CCDS1165.1																																																																																				0.597	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		A	157508937	G	A	157508937	2	1	277	1	0	0	0	0	0	0	0	1	5798	1024	36	2		2	FCRL5	1	157508937	Silent	SNP	G	TCGA-24-2280-01A-01W-0799-08	11945887	157508937	91741684	2	15463											
EOMES	8320	broad.mit.edu	37	3	27758585	27758585	+	Nonsense_Mutation	SNP	A	A	C			TCGA-24-2280-01A-01W-0799-08	TCGA-24-2280-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	aa3a523c-50f1-4aaf-ae8a-23867be79a25	be0c1219-e177-4895-882f-607261fe4741	g.chr3:27758585A>C	ENST00000295743.4	-	6	2240	c.2037T>G	c.(2035-2037)taT>taG	p.Y679*	EOMES_ENST00000537516.1_Nonsense_Mutation_p.Y403*|EOMES_ENST00000449599.1_Nonsense_Mutation_p.Y698*|EOMES_ENST00000461503.1_5'Flank			O95936	EOMES_HUMAN	eomesodermin	679	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y679*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AAAAAGCATAATACCCTCCCA	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	3											117	113	114					3																	27758585		2203	4300	6503	27733589	SO:0001587	stop_gained	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.2037T>G	3.37:g.27758585A>C	ENSP00000295743:p.Tyr679*		27733589	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Nonsense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	A	36	5.706424	0.96821	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	.	.	.	4.34	0.665	0.17896	.	0.491469	0.23226	N	0.050509	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0406	0.25019	0.5747:0.0:0.4253:0.0	.	.	.	.	X	679;698;403;563	.	ENSP00000295743:Y679X	Y	-	3	2	EOMES	27733589	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	0.852000	0.27764	0.253000	0.21552	0.460000	0.39030	TAT		0.378	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		C	27758585	A	C	27758585	4	2	277	1	0	0	0	0	0	1	0	0	5147	108	4	5	27	5	EOMES	3	27758585	Nonsense_Mutation	SNP	A	TCGA-24-2280-01A-01W-0799-08		27758585	170263845	3	15464											
SLC17A1	6568	broad.mit.edu	37	6	25811900	25811900	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2280-01A-01W-0799-08	TCGA-24-2280-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	aa3a523c-50f1-4aaf-ae8a-23867be79a25	be0c1219-e177-4895-882f-607261fe4741	g.chr6:25811900G>T	ENST00000244527.4	-	9	1111	c.996C>A	c.(994-996)agC>agA	p.S332R	SLC17A1_ENST00000476801.1_Missense_Mutation_p.S332R|SLC17A1_ENST00000468082.1_Missense_Mutation_p.S278R|SLC17A1_ENST00000427328.1_Missense_Mutation_p.S278R	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	332					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.S332R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CAGCAATTACGCTGAGAATAT	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											98	88	92					6																	25811900		2203	4300	6503	25919879	SO:0001583	missense	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.996C>A	6.37:g.25811900G>T	ENSP00000244527:p.Ser332Arg		25919879	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.185541	0.00026	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.74315	0.4;-0.83;0.4;-0.83	3.38	0.631	0.17699	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.242522	0.29225	N	0.012774	T	0.37999	0.1024	L	0.37507	1.11	0.09310	N	0.999997	B;B	0.13145	0.006;0.007	B;B	0.19391	0.022;0.025	T	0.32188	-0.9916	10	0.30854	T	0.27	.	5.5821	0.17254	0.3676:0.0:0.6324:0.0	.	278;332	Q14916-2;Q14916	.;NPT1_HUMAN	R	332;278;332;278	ENSP00000244527:S332R;ENSP00000410549:S278R;ENSP00000420614:S332R;ENSP00000420546:S278R	ENSP00000244527:S332R	S	-	3	2	SLC17A1	25919879	0.018000	0.18449	0.047000	0.18901	0.008000	0.06430	-0.139000	0.10358	0.113000	0.18004	-0.781000	0.03364	AGC		0.463	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			T	25811900	G	T	25811900	3	4	277	1	0	0	0	0	1	0	0	0	14419	1078	38	3	423	3	SLC17A1	6	25811900	Missense_Mutation	SNP	G	TCGA-24-2280-01A-01W-0799-08		25811900	145303167	4	15465											
C6orf142	90523	broad.mit.edu	37	6	54095652	54095652	+	Silent	SNP	C	C	T			TCGA-24-2280-01A-01W-0799-08	TCGA-24-2280-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	aa3a523c-50f1-4aaf-ae8a-23867be79a25	be0c1219-e177-4895-882f-607261fe4741	g.chr6:54095652C>T	ENST00000274897.5	+	11	1367	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	MLIP_ENST00000502396.1_Silent_p.S953S|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	418						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.S418S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GTCATCTGTCCTTCTCCTTGA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	6											234	206	216					6																	54095652		2203	4300	6503	54203611	SO:0001819	synonymous_variant	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1254C>T	6.37:g.54095652C>T			54203611	B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	CCDS4954.1																																																																																				0.483	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		T	54095652	C	T	54095652	2	4	277	1	0	0	0	0	0	0	0	1	2333	668	24	2		2	C6orf142	6	54095652	Silent	SNP	C	TCGA-24-2280-01A-01W-0799-08	28283752	54095652	117019415	5	15466											
LY9	4063	broad.mit.edu	37	1	160783668	160783668	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr1:160783668T>A	ENST00000263285.6	+	3	727	c.697T>A	c.(697-699)Tcc>Acc	p.S233T	LY9_ENST00000368037.5_Missense_Mutation_p.S233T|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.S193T|LY9_ENST00000341032.4_Missense_Mutation_p.S233T|LY9_ENST00000392203.4_Missense_Mutation_p.S233T			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	233	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S233T(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAGAGAAGCTCCCTCCCTGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											182	173	176					1																	160783668		2203	4300	6503	159050292	SO:0001583	missense	4063			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.697T>A	1.37:g.160783668T>A	ENSP00000263285:p.Ser233Thr		159050292	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.494226	0.44352	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.38077	1.16;1.16	4.12	4.12	0.48240	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.374205	0.24980	N	0.034073	T	0.54013	0.1832	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.997;0.999;0.997;0.999;0.997	D;D;D;D;D;D	0.75484	0.98;0.98;0.986;0.98;0.986;0.985	T	0.61574	-0.7035	10	0.56958	D	0.05	-17.1272	10.1036	0.42519	0.0:0.0:0.0:1.0	.	233;193;193;233;233;233	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	T	233;233;233;233;193;193;135	ENSP00000342921:S233T;ENSP00000263285:S233T	ENSP00000263285:S233T	S	+	1	0	LY9	159050292	0.670000	0.27512	0.405000	0.26409	0.079000	0.17450	3.290000	0.51755	1.793000	0.52555	0.455000	0.32223	TCC		0.537	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		A	160783668	T	A	160783668	3	1	278	1	0	0	0	0	1	0	0	0	9101	1551	54	5	839	5	LY9	1	160783668	Missense_Mutation	SNP	T	TCGA-24-2281-01A-01W-0799-08		160783668	88466953	1	15467											
KIF3C	3797	broad.mit.edu	37	2	26177255	26177255	+	Splice_Site	SNP	C	C	T			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr2:26177255C>T	ENST00000264712.3	-	4	2350		c.e4-1		KIF3C_ENST00000496378.1_5'Flank|KIF3C_ENST00000405914.1_Splice_Site	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCGTAGAGCTGGGTGGGGA	0.647																																																1	Unknown(1)	ovary(1)	2											51	36	41					2																	26177255		2203	4300	6503	26030759	SO:0001630	splice_region_variant	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1771-1G>A	2.37:g.26177255C>T			26030759	O43544|Q4ZG18|Q53SX5|Q562F7	Splice_Site	SNP	ENST00000264712.3	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829768	0.71258	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9192	0.79547	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF3C	26030759	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.755000	0.85180	2.354000	0.79902	0.462000	0.41574	.		0.647	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1		Intron	T	26177255	C	T	26177255	5	4	278	1	0	0	0	0	0	0	1	0	8302	811	28	2	631	2	KIF3C	2	26177255	Splice_Site	SNP	C	TCGA-24-2281-01A-01W-0799-08		26177255	217022118	2	15468											
DYSF	8291	broad.mit.edu	37	2	71762428	71762428	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr2:71762428C>T	ENST00000258104.3	+	15	1661	c.1384C>T	c.(1384-1386)Cgt>Tgt	p.R462C	DYSF_ENST00000409744.1_Missense_Mutation_p.R463C|DYSF_ENST00000410020.3_Missense_Mutation_p.R494C|DYSF_ENST00000409762.1_Missense_Mutation_p.R493C|DYSF_ENST00000429174.2_Missense_Mutation_p.R462C|DYSF_ENST00000409651.1_Missense_Mutation_p.R494C|DYSF_ENST00000410041.1_Missense_Mutation_p.R494C|DYSF_ENST00000413539.2_Missense_Mutation_p.R493C|DYSF_ENST00000409366.1_Missense_Mutation_p.R463C|DYSF_ENST00000394120.2_Missense_Mutation_p.R463C|DYSF_ENST00000409582.3_Missense_Mutation_p.R493C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	462	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.R462C(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AATGAGGATTCGTATCATAGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	2											120	121	120					2																	71762428		2203	4300	6503	71615936	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1384C>T	2.37:g.71762428C>T	ENSP00000258104:p.Arg462Cys		71615936	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883185	0.72410	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.84	4.84	0.62591	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.123265	0.52532	D	0.000061	T	0.80319	0.4601	M	0.69358	2.11	0.58432	D	0.999993	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.947;0.988;0.988;0.947;0.954;0.954;0.954;0.954;0.996;0.954;0.969;0.977;0.947;0.969	T	0.82059	-0.0645	10	0.72032	D	0.01	-13.9072	16.2466	0.82448	0.0:1.0:0.0:0.0	.	494;494;463;463;494;463;493;462;493;493;462;462;463;462	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	C	493;493;493;462;462;494;463;463;463;494;494	ENSP00000407046:R493C;ENSP00000387137:R493C;ENSP00000386547:R493C;ENSP00000398305:R462C;ENSP00000258104:R462C;ENSP00000386683:R494C;ENSP00000377678:R463C;ENSP00000386285:R463C;ENSP00000386512:R463C;ENSP00000386881:R494C;ENSP00000386617:R494C	ENSP00000258104:R462C	R	+	1	0	DYSF	71615936	1.000000	0.71417	0.993000	0.49108	0.893000	0.52053	2.681000	0.46926	2.640000	0.89533	0.655000	0.94253	CGT		0.527	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		T	71762428	C	T	71762428	3	4	278	1	0	0	0	0	1	0	0	0	4859	884	31	1	1634	1	DYSF	2	71762428	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08	45585173	71762428	171436945	3	15469											
ZNF804A	91752	broad.mit.edu	37	2	185802432	185802432	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr2:185802432G>A	ENST00000302277.6	+	4	2903	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	770							metal ion binding (GO:0046872)	p.R770Q(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGATTCTATCGAAAACGTAGA	0.333																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	2											54	56	55					2																	185802432		2203	4300	6503	185510677	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2309G>A	2.37:g.185802432G>A	ENSP00000303252:p.Arg770Gln		185510677	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896539	0.72639	.	.	ENSG00000170396	ENST00000302277	T	0.10382	2.88	5.96	4.17	0.49024	.	0.163547	0.29737	N	0.011328	T	0.09555	0.0235	L	0.55481	1.735	0.35851	D	0.826787	P	0.43519	0.809	B	0.27608	0.081	T	0.17899	-1.0354	10	0.87932	D	0	-1.2457	12.0638	0.53576	0.1391:0.0:0.8609:0.0	.	770	Q7Z570	Z804A_HUMAN	Q	770	ENSP00000303252:R770Q	ENSP00000303252:R770Q	R	+	2	0	ZNF804A	185510677	0.920000	0.31207	0.935000	0.37517	0.970000	0.65996	1.517000	0.35867	0.855000	0.35359	0.655000	0.94253	CGA		0.333	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185802432	G	A	185802432	3	1	278	1	0	0	0	0	1	0	0	0	18170	1058	37	1	2323	1	ZNF804A	2	185802432	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08	114040004	185802432	57396941	4	15470											
PGAP1	80055	broad.mit.edu	37	2	197712711	197712711	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr2:197712711T>C	ENST00000354764.4	-	21	2026	c.1912A>G	c.(1912-1914)Aaa>Gaa	p.K638E	PGAP1_ENST00000409475.1_3'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	638					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.K638E(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GGATCAACTTTGTATGGTTTG	0.279																																																1	Substitution - Missense(1)	ovary(1)	2											115	114	114					2																	197712711		2202	4296	6498	197420956	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1912A>G	2.37:g.197712711T>C	ENSP00000346809:p.Lys638Glu		197420956	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084328	0.76642	.	.	ENSG00000197121	ENST00000422382;ENST00000354764	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.62295	0.2416	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.56571	-0.7957	9	0.16896	T	0.51	-11.6922	13.2227	0.59896	0.0:0.0:0.0:1.0	.	638	Q75T13	PGAP1_HUMAN	E	418;638	.	ENSP00000346809:K638E	K	-	1	0	PGAP1	197420956	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.302000	0.65733	1.707000	0.51288	0.533000	0.62120	AAA		0.279	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		C	197712711	T	C	197712711	3	2	278	1	0	0	0	0	1	0	0	0	11777	1821	63	4	884	4	PGAP1	2	197712711	Missense_Mutation	SNP	T	TCGA-24-2281-01A-01W-0799-08	11910279	197712711	45486662	5	15471											
RHOH	399	broad.mit.edu	37	4	40245074	40245074	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr4:40245074G>A	ENST00000381799.5	+	3	792	c.68G>A	c.(67-69)cGc>cAc	p.R23H	RHOH_ENST00000505618.1_Missense_Mutation_p.R23H	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	23					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.R23H(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGTTGGTGCGCTTCACCTCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	4											205	158	174					4																	40245074		2203	4300	6503	39921469	SO:0001583	missense	399			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"ras homolog gene family, member H"	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.68G>A	4.37:g.40245074G>A	ENSP00000371219:p.Arg23His		39921469		Missense_Mutation	SNP	ENST00000381799.5	37	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	34	5.355464	0.95854	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.74	5.74	0.90152	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84137	0.0415	10	0.87932	D	0	.	19.9197	0.97082	0.0:0.0:1.0:0.0	.	23	Q15669	RHOH_HUMAN	H	23	ENSP00000425010:R23H;ENSP00000423384:R23H;ENSP00000426439:R23H;ENSP00000371219:R23H	ENSP00000371219:R23H	R	+	2	0	RHOH	39921469	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.634000	0.83273	2.702000	0.92279	0.655000	0.94253	CGC		0.582	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		A	40245074	G	A	40245074	3	1	278	1	0	0	0	0	1	0	0	0	13343	1087	38	1	70	1	RHOH	4	40245074	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08		40245074	150909202	6	15472											
OTUD4	54726	broad.mit.edu	37	4	146058728	146058728	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr4:146058728C>A	ENST00000447906.2	-	21	3386	c.3199G>T	c.(3199-3201)Gtg>Ttg	p.V1067L	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.V1002L			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1067					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.V1001L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCACTTCTCACATGTTGATAT	0.453																																																1	Substitution - Missense(1)	ovary(1)	4											229	220	223					4																	146058728		2203	4300	6503	146278178	SO:0001583	missense	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3199G>T	4.37:g.146058728C>A	ENSP00000395487:p.Val1067Leu		146278178	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	C	6.904	0.536317	0.13188	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.30182	1.54;1.54	6.17	-0.376	0.12505	.	0.697933	0.13367	N	0.393189	T	0.13329	0.0323	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20840	-1.0263	10	0.27082	T	0.32	0.0672	2.8746	0.05627	0.1864:0.2363:0.429:0.1482	.	1067;1066	G3V0I6;Q01804	.;OTUD4_HUMAN	L	1002;1067	ENSP00000409279:V1002L;ENSP00000395487:V1067L	ENSP00000395487:V1067L	V	-	1	0	OTUD4	146278178	0.000000	0.05858	0.000000	0.03702	0.976000	0.68499	0.188000	0.17018	0.140000	0.18849	0.655000	0.94253	GTG		0.453	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		A	146058728	C	A	146058728	3	1	278	1	0	0	0	0	1	0	0	0	11314	478	17	3	149	3	OTUD4	4	146058728	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08	105813654	146058728	45095548	7	15473											
ANKHD1	54882	broad.mit.edu	37	5	139838209	139838209	+	Splice_Site	SNP	G	G	T			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr5:139838209G>T	ENST00000360839.2	+	8	1396		c.e8-1		ANKHD1_ENST00000297183.6_Splice_Site|ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site|ANKHD1_ENST00000394723.3_Splice_Site|ANKHD1_ENST00000394722.3_Splice_Site	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1							cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.?(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATCTGCAGGATGGACATG	0.398																																																2	Unknown(2)	ovary(2)	5											63	62	62					5																	139838209		2203	4300	6503	139818393	SO:0001630	splice_region_variant	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1243-1G>T	5.37:g.139838209G>T			139818393	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Splice_Site	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242017	0.79912	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0137	0.97470	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKHD1-EIF4EBP3;ANKHD1	139818393	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	9.869000	0.99810	2.734000	0.93682	0.563000	0.77884	.		0.398	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	Intron	T	139838209	G	T	139838209	5	4	278	1	0	0	0	0	0	0	1	0	628	1014	35	3	1272	3	ANKHD1	5	139838209	Splice_Site	SNP	G	TCGA-24-2281-01A-01W-0799-08		139838209	41077051	8	15474											
PCDHGA9	56107	broad.mit.edu	37	5	140783157	140783157	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr5:140783157C>T	ENST00000573521.1	+	1	638	c.638C>T	c.(637-639)aCg>aTg	p.T213M	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGGCCTCGGAT	0.597																																																0			5											30	35	33					5																	140783157		2048	4181	6229	140763341	SO:0001583	missense	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.638C>T	5.37:g.140783157C>T	ENSP00000460274:p.Thr213Met		140763341	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																				0.597	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		T	140783157	C	T	140783157	3	4	278	1	0	0	0	0	1	0	0	0	11561	536	19	1	640	1	PCDHGA9	5	140783157	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08	944948	140783157	40132103	9	15475											
ATP10B	23120	broad.mit.edu	37	5	160016680	160016680	+	Missense_Mutation	SNP	A	A	C	rs371483735		TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr5:160016680A>C	ENST00000327245.5	-	24	4515	c.3669T>G	c.(3667-3669)gaT>gaG	p.D1223E		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1223					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D1223E(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTAAAGACATCTATATCAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	5											176	181	179					5																	160016680		1953	4143	6096	159949258	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3669T>G	5.37:g.160016680A>C	ENSP00000313600:p.Asp1223Glu		159949258	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756686	0.31137	.	.	ENSG00000118322	ENST00000327245	T	0.40225	1.04	5.4	-10.8	0.00216	.	0.117031	0.56097	N	0.000034	T	0.38558	0.1045	M	0.85099	2.735	0.21105	N	0.999787	B	0.23650	0.089	B	0.17098	0.017	T	0.11916	-1.0568	9	.	.	.	.	16.1309	0.81436	0.7665:0.0:0.1577:0.0758	.	1223	O94823	AT10B_HUMAN	E	1223	ENSP00000313600:D1223E	.	D	-	3	2	ATP10B	159949258	0.000000	0.05858	0.011000	0.14972	0.656000	0.38851	-1.566000	0.02148	-2.998000	0.00277	-2.196000	0.00310	GAT		0.473	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		C	160016680	A	C	160016680	3	2	278	1	0	0	0	0	1	0	0	0	1117	214	8	5	728	5	ATP10B	5	160016680	Missense_Mutation	SNP	A	TCGA-24-2281-01A-01W-0799-08	19233523	160016680	20898580	10	15476											
DNAH11	8701	broad.mit.edu	37	7	21640503	21640503	+	Silent	SNP	A	A	G			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr7:21640503A>G	ENST00000409508.3	+	16	3241	c.3210A>G	c.(3208-3210)gaA>gaG	p.E1070E	DNAH11_ENST00000328843.6_Silent_p.E1070E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1070	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1070E(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGCAAATGAAGAAATTCCCG	0.418									Kartagener syndrome																																							1	Substitution - coding silent(1)	ovary(1)	7											128	120	122					7																	21640503		1893	4128	6021	21607028	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3210A>G	7.37:g.21640503A>G			21607028	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		G	21640503	A	G	21640503	2	3	278	1	0	0	0	0	0	0	0	1	4599	69	3	4		4	DNAH11	7	21640503	Silent	SNP	A	TCGA-24-2281-01A-01W-0799-08		21640503	137498160	11	15477											
TRAM1	23471	broad.mit.edu	37	8	71499191	71499191	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr8:71499191C>G	ENST00000262213.2	-	8	854	c.685G>C	c.(685-687)Gtt>Ctt	p.V229L	TRAM1_ENST00000521425.1_Missense_Mutation_p.V143L|TRAM1_ENST00000536748.1_Missense_Mutation_p.V198L|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	229	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V229L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGAAATTCAACAAAATAATGT	0.328																																					Ovarian(85;984 1334 5116 12432 40638)											1	Substitution - Missense(1)	ovary(1)	8											96	92	93					8																	71499191		2203	4300	6503	71661745	SO:0001583	missense	23471			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.685G>C	8.37:g.71499191C>G	ENSP00000262213:p.Val229Leu		71661745	B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385818	0.82792	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.85484	-1.99;-1.99;-1.99	5.66	5.66	0.87406	TRAM/LAG1/CLN8 homology domain (3);	0.115894	0.56097	D	0.000021	D	0.90383	0.6990	M	0.80028	2.48	0.58432	D	0.999998	P	0.50156	0.932	P	0.51079	0.658	D	0.90709	0.4626	10	0.54805	T	0.06	-19.3657	19.7406	0.96230	0.0:1.0:0.0:0.0	.	229	Q15629	TRAM1_HUMAN	L	143;229;198	ENSP00000428052:V143L;ENSP00000262213:V229L;ENSP00000439359:V198L	ENSP00000262213:V229L	V	-	1	0	TRAM1	71661745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.857000	0.55972	2.657000	0.90304	0.585000	0.79938	GTT		0.328	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		G	71499191	C	G	71499191	3	3	278	1	0	0	0	0	1	0	0	0	16451	478	17	3	455	3	TRAM1	8	71499191	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08		71499191	74864831	12	15478											
GPR158	57512	broad.mit.edu	37	10	25887864	25887864	+	Silent	SNP	C	C	T	rs149155339		TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr10:25887864C>T	ENST00000376351.3	+	11	3668	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1103					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N1103N(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGAGGAGAACGGAGGTCAGC	0.493													C|||	1	0.000199681	8e-04	0	5008	,	,		18272	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	10						C		1,4405		0,1,2202	79	84	82		3309	-11.8	0	10	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GPR158	NM_020752.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		1103/1216	25887864	3,13003	2203	4300	6503	25927870	SO:0001819	synonymous_variant	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3309C>T	10.37:g.25887864C>T			25927870	Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																				0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		T	25887864	C	T	25887864	2	4	278	1	0	0	0	0	0	0	0	1	6663	535	19	1		1	GPR158	10	25887864	Silent	SNP	C	TCGA-24-2281-01A-01W-0799-08		25887864	109646883	13	15479											
SVIL	6840	broad.mit.edu	37	10	29840004	29840004	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr10:29840004C>A	ENST00000355867.4	-	6	1101	c.349G>T	c.(349-351)Gca>Tca	p.A117S	SVIL_ENST00000375398.2_Missense_Mutation_p.A117S|SVIL_ENST00000375400.3_Missense_Mutation_p.A117S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	117	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.A117S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TACTTCTCTGCCAGCTGTCGC	0.552																																																1	Substitution - Missense(1)	ovary(1)	10											191	160	171					10																	29840004		2203	4300	6503	29880010	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.349G>T	10.37:g.29840004C>A	ENSP00000348128:p.Ala117Ser		29880010	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914051	0.72983	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.47528	0.84;0.84;0.84	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.65524	-0.6147	9	.	.	.	-19.2864	19.203	0.93719	0.0:1.0:0.0:0.0	.	117;117	O95425-2;O95425	.;SVIL_HUMAN	S	117	ENSP00000364549:A117S;ENSP00000364547:A117S;ENSP00000348128:A117S	.	A	-	1	0	SVIL	29880010	1.000000	0.71417	0.999000	0.59377	0.429000	0.31625	5.181000	0.65054	2.535000	0.85469	0.591000	0.81541	GCA		0.552	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			A	29840004	C	A	29840004	3	1	278	1	0	0	0	0	1	0	0	0	15421	739	26	3	6427	3	SVIL	10	29840004	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08	3952140	29840004	105694743	14	15480											
PCDH15	65217	broad.mit.edu	37	10	55955527	55955527	+	Silent	SNP	A	A	G			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr10:55955527A>G	ENST00000320301.6	-	11	1615	c.1221T>C	c.(1219-1221)tcT>tcC	p.S407S	PCDH15_ENST00000395432.2_Silent_p.S370S|PCDH15_ENST00000395440.1_Silent_p.S407S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Silent_p.S385S|PCDH15_ENST00000373955.1_Silent_p.S407S|PCDH15_ENST00000437009.1_Silent_p.S407S|PCDH15_ENST00000361849.3_Silent_p.S407S|PCDH15_ENST00000414778.1_Silent_p.S412S|PCDH15_ENST00000373965.2_Silent_p.S407S|PCDH15_ENST00000409834.1_Silent_p.S11S|PCDH15_ENST00000395438.1_Silent_p.S407S|PCDH15_ENST00000395433.1_Silent_p.S385S|PCDH15_ENST00000395445.1_Silent_p.S407S|PCDH15_ENST00000395446.1_Silent_p.S407S|PCDH15_ENST00000395430.1_Silent_p.S407S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	407	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S407S(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCACTGGGGCAGATTCCAGGA	0.403										HNSCC(58;0.16)																																						1	Substitution - coding silent(1)	ovary(1)	10											143	132	136					10																	55955527		2203	4300	6503	55625533	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1221T>C	10.37:g.55955527A>G			55625533	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		G	55955527	A	G	55955527	2	3	278	1	0	0	0	0	0	0	0	1	11511	175	7	4		4	PCDH15	10	55955527	Silent	SNP	A	TCGA-24-2281-01A-01W-0799-08	26115523	55955527	79579220	15	15481											
FAM35A	54537	broad.mit.edu	37	10	88911656	88911656	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr10:88911656G>C	ENST00000298784.1	+	3	659	c.545G>C	c.(544-546)tGt>tCt	p.C182S	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.C182S	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	182								p.C182S(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GATTTGGTTTGTAGTACTGAA	0.368																																					Ovarian(175;703 2004 25460 32514 43441)											1	Substitution - Missense(1)	ovary(1)	10											23	25	24					10																	88911656		1991	3954	5945	88901636	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.545G>C	10.37:g.88911656G>C	ENSP00000298784:p.Cys182Ser		88901636	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	g	6.934	0.542143	0.13250	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.22539	1.95;1.95;1.95	4.23	1.21	0.21127	.	0.510762	0.16503	N	0.211575	T	0.15392	0.0371	L	0.40543	1.245	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.30563	-0.9974	10	0.19590	T	0.45	-0.1512	9.8843	0.41253	0.0845:0.5117:0.4037:0.0	.	182	Q86V20	FA35A_HUMAN	S	182	ENSP00000298786:C182S;ENSP00000298784:C182S;ENSP00000351064:C182S	ENSP00000298784:C182S	C	+	2	0	FAM35A	88901636	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	-0.317000	0.08060	0.068000	0.16574	0.537000	0.68136	TGT		0.368	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		C	88911656	G	C	88911656	3	2	278	1	0	0	0	0	1	0	0	0	5553	1377	48	3	547	3	FAM35A	10	88911656	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08	32956129	88911656	46623091	16	15482											
TAF5	6877	broad.mit.edu	37	10	105147827	105147827	+	Silent	SNP	T	T	C			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr10:105147827T>C	ENST00000369839.3	+	11	2273	c.2250T>C	c.(2248-2250)gaT>gaC	p.D750D	TAF5_ENST00000351396.4_Silent_p.D695D	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	750					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D750D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TAGAGACCGATGACTTTACTA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	10											131	132	132					10																	105147827		2203	4300	6503	105137817	SO:0001819	synonymous_variant	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.2250T>C	10.37:g.105147827T>C			105137817	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	CCDS7547.1																																																																																				0.393	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			C	105147827	T	C	105147827	2	2	278	1	0	0	0	0	0	0	0	1	15528	1461	51	4		4	TAF5	10	105147827	Silent	SNP	T	TCGA-24-2281-01A-01W-0799-08	16236171	105147827	30386920	17	15483											
FANK1	92565	broad.mit.edu	37	10	127697035	127697035	+	Silent	SNP	G	G	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr10:127697035G>A	ENST00000368693.1	+	8	869	c.765G>A	c.(763-765)tcG>tcA	p.S255S	FANK1_ENST00000368695.1_Silent_p.S249S|FANK1_ENST00000477963.1_3'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	255						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S255S(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CTGCGGTGTCGGGAAATCAGA	0.532																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	10											113	110	111					10																	127697035		2203	4300	6503	127687025	SO:0001819	synonymous_variant	92565			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.765G>A	10.37:g.127697035G>A			127687025	Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	0.527	-0.859534	0.02610	.	.	ENSG00000203780	ENST00000456942	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.32194	0.0821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46219	-0.9207	4	.	.	.	-13.9202	1.9821	0.03429	0.4587:0.2082:0.1125:0.2206	.	.	.	.	Q	150	.	.	R	+	2	0	FANK1	127687025	0.000000	0.05858	0.006000	0.13384	0.104000	0.19210	-3.541000	0.00437	-3.551000	0.00142	-0.140000	0.14226	CGG		0.532	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		A	127697035	G	A	127697035	2	1	278	1	0	0	0	0	0	0	0	1	5672	1103	39	1		1	FANK1	10	127697035	Silent	SNP	G	TCGA-24-2281-01A-01W-0799-08	22549208	127697035	7837712	18	15484											
LRP4	4038	broad.mit.edu	37	11	46893168	46893168	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr11:46893168C>T	ENST00000378623.1	-	31	4842	c.4600G>A	c.(4600-4602)Gcg>Acg	p.A1534T	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1534					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.A1534T(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCAGATGCGCATCCACCCAG	0.572																																																1	Substitution - Missense(1)	ovary(1)	11											98	83	88					11																	46893168		2201	4299	6500	46849744	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4600G>A	11.37:g.46893168C>T	ENSP00000367888:p.Ala1534Thr		46849744	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532635	0.96446	.	.	ENSG00000134569	ENST00000378623	D	0.96427	-4.01	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97857	0.9296	M	0.83692	2.655	0.80722	D	1	P	0.37500	0.597	P	0.51742	0.678	D	0.97727	1.0200	10	0.56958	D	0.05	.	19.6735	0.95921	0.0:1.0:0.0:0.0	.	1534	O75096	LRP4_HUMAN	T	1534	ENSP00000367888:A1534T	ENSP00000367888:A1534T	A	-	1	0	LRP4	46849744	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.565000	0.82337	2.736000	0.93811	0.655000	0.94253	GCG		0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		T	46893168	C	T	46893168	3	4	278	1	0	0	0	0	1	0	0	0	8959	710	25	2	1149	2	LRP4	11	46893168	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08		46893168	88113348	19	15485											
GRM5	2915	broad.mit.edu	37	11	88780767	88780767	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr11:88780767C>G	ENST00000305447.4	-	1	423	c.274G>C	c.(274-276)Ggc>Cgc	p.G92R	GRM5_ENST00000418177.2_Missense_Mutation_p.G92R|GRM5_ENST00000393294.3_Missense_Mutation_p.G92R|GRM5_ENST00000393297.1_Missense_Mutation_p.G92R|GRM5_ENST00000455756.2_Missense_Mutation_p.G92R|GRM5_ENST00000305432.5_Missense_Mutation_p.G92R	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	92					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.G92C(2)|p.G92R(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATCTCACAGCCCAGTGTGATG	0.522																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	11											85	74	78					11																	88780767		2201	4299	6500	88420415	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.274G>C	11.37:g.88780767C>G	ENSP00000306138:p.Gly92Arg		88420415	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395409	0.83011	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91341	0.7269	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92858	0.6303	9	.	.	.	.	19.5349	0.95247	0.0:1.0:0.0:0.0	.	92;92;92	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	R	92	ENSP00000402912:G92R;ENSP00000405690:G92R;ENSP00000305905:G92R;ENSP00000306138:G92R;ENSP00000376975:G92R;ENSP00000376972:G92R	.	G	-	1	0	GRM5	88420415	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.687000	0.84139	2.605000	0.88082	0.563000	0.77884	GGC		0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		G	88780767	C	G	88780767	3	3	278	1	0	0	0	0	1	0	0	0	6800	623	22	3	3400	3	GRM5	11	88780767	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08	41887599	88780767	46225749	20	15486											
SLC36A4	120103	broad.mit.edu	37	11	92917625	92917625	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr11:92917625G>C	ENST00000326402.4	-	3	371	c.241C>G	c.(241-243)Cca>Gca	p.P81A	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	81					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.P81A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTGCCAATGGAAGTCCTAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	11											191	201	198					11																	92917625		2201	4298	6499	92557273	SO:0001583	missense	120103			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.241C>G	11.37:g.92917625G>C	ENSP00000317382:p.Pro81Ala		92557273	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547523	0.86022	.	.	ENSG00000180773	ENST00000326402	T	0.04454	3.62	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	T	0.29256	0.0728	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01198	-1.1421	10	0.87932	D	0	-10.5433	20.2348	0.98355	0.0:0.0:1.0:0.0	.	81	Q6YBV0	S36A4_HUMAN	A	81	ENSP00000317382:P81A	ENSP00000317382:P81A	P	-	1	0	SLC36A4	92557273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.710000	0.84655	2.880000	0.98712	0.650000	0.86243	CCA		0.333	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			C	92917625	G	C	92917625	3	2	278	1	0	0	0	0	1	0	0	0	14599	1174	41	3	1309	3	SLC36A4	11	92917625	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08	4136858	92917625	42088891	21	15487											
POU2F3	25833	broad.mit.edu	37	11	120180221	120180221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr11:120180221C>T	ENST00000543440.2	+	10	1144	c.994C>T	c.(994-996)Cga>Tga	p.R332*	POU2F3_ENST00000260264.4_Nonsense_Mutation_p.R334*	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	332					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.R332*(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GTTCTGCAACCGACGCCAAAA	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	11											125	93	104					11																	120180221		2203	4299	6502	119685431	SO:0001587	stop_gained	25833			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.994C>T	11.37:g.120180221C>T	ENSP00000441687:p.Arg332*		119685431	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Nonsense_Mutation	SNP	ENST00000543440.2	37	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	38	7.252900	0.98164	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620;ENST00000532638	.	.	.	5.1	5.1	0.69264	.	0.068312	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9011	0.92443	0.0:1.0:0.0:0.0	.	.	.	.	X	334;332;286;117	.	ENSP00000260264:R332X	R	+	1	2	POU2F3	119685431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.994000	0.70623	2.534000	0.85438	0.637000	0.83480	CGA		0.557	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			T	120180221	C	T	120180221	4	4	278	1	0	0	0	0	0	1	0	0	12273	644	23	1	1032	1	POU2F3	11	120180221	Nonsense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08	27262596	120180221	14826295	22	15488											
ATP2A2	488	broad.mit.edu	37	12	110778528	110778528	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr12:110778528C>A	ENST00000539276.2	+	14	1935	c.1826C>A	c.(1825-1827)tCc>tAc	p.S609Y	ATP2A2_ENST00000395494.2_Missense_Mutation_p.S582Y|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S609Y			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	609					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.S609Y(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GTGGCCTCCTCCGTGAAGCTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	12											104	103	103					12																	110778528		2203	4300	6503	109262911	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1826C>A	12.37:g.110778528C>A	ENSP00000440045:p.Ser609Tyr		109262911	A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019596	0.93462	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.95821	-3.82;-3.82;-3.82	6.07	6.07	0.98685	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.047272	0.85682	D	0.000000	D	0.98566	0.9521	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.967;0.993;0.996	D	0.98799	1.0739	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	582;609;609	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	Y	609;582;609	ENSP00000311186:S609Y;ENSP00000378872:S582Y;ENSP00000440045:S609Y	ENSP00000311186:S609Y	S	+	2	0	ATP2A2	109262911	1.000000	0.71417	0.864000	0.33941	0.877000	0.50540	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	TCC		0.552	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		A	110778528	C	A	110778528	3	1	278	1	0	0	0	0	1	0	0	0	1137	855	30	3	1880	3	ATP2A2	12	110778528	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08		110778528	23073367	23	15489											
PAK6	56924	broad.mit.edu	37	15	40565547	40565547	+	Splice_Site	SNP	G	G	C			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr15:40565547G>C	ENST00000542403.2	+	6	1602	c.1491G>C	c.(1489-1491)agG>agC	p.R497S	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Splice_Site_p.R497S|PAK6_ENST00000455577.2_Splice_Site_p.R497S|PAK6_ENST00000260404.4_Splice_Site_p.R497S|PAK6_ENST00000560346.1_Splice_Site_p.R497S|PAK6_ENST00000453867.1_Splice_Site_p.R497S	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R497S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TCCTGTCCAGGCTGAATGAGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	15											95	76	83					15																	40565547		2203	4300	6503	38352839	SO:0001630	splice_region_variant	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1491-1G>C	15.37:g.40565547G>C			38352839	A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772558	0.69992	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.65178	-0.14;-0.14;1.06;-0.14;-0.14	5.02	4.09	0.47781	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	0.65821	0.2728	L	0.33668	1.02	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.81914	0.995;0.99	T	0.62803	-0.6777	9	.	.	.	.	9.0047	0.36104	0.1705:0.0:0.8295:0.0	.	497;497	Q9NQU5;G5E9R2	PAK6_HUMAN;.	S	497	ENSP00000406873:R497S;ENSP00000401153:R497S;ENSP00000409465:R497S;ENSP00000260404:R497S;ENSP00000439597:R497S	.	R	+	3	2	PAK6	38352839	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	3.411000	0.52672	1.077000	0.40990	0.563000	0.77884	AGG		0.602	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1		Missense_Mutation	C	40565547	G	C	40565547	5	2	278	1	0	0	0	0	0	0	1	0	11404	1217	42	3	1509	3	PAK6	15	40565547	Splice_Site	SNP	G	TCGA-24-2281-01A-01W-0799-08		40565547	61965845	24	15490											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	278	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08		7578406	73616804	25	15491											
SLC6A4	6532	broad.mit.edu	37	17	28548917	28548917	+	Silent	SNP	A	A	G	rs201481422		TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr17:28548917A>G	ENST00000401766.2	-	2	572	c.60T>C	c.(58-60)gaT>gaC	p.D20D	SLC6A4_ENST00000261707.3_Silent_p.D20D			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	20					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.D20D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TTTCCTGACAATCTTCTCCAT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	17											104	92	96					17																	28548917		2203	4300	6503	25573043	SO:0001819	synonymous_variant	6532			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.60T>C	17.37:g.28548917A>G			25573043	Q5EE02	Silent	SNP	ENST00000401766.2	37	CCDS11256.1																																																																																				0.502	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		G	28548917	A	G	28548917	2	3	278	1	0	0	0	0	0	0	0	1	14689	98	4	4		4	SLC6A4	17	28548917	Silent	SNP	A	TCGA-24-2281-01A-01W-0799-08	20970511	28548917	52646293	26	15492											
CCDC40	55036	broad.mit.edu	37	17	78063611	78063611	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr17:78063611G>A	ENST00000397545.4	+	17	2787	c.2760G>A	c.(2758-2760)atG>atA	p.M920I	CCDC40_ENST00000573903.1_3'UTR|CCDC40_ENST00000374877.3_Missense_Mutation_p.M920I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	920					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.M920I(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAAAAGAGATGCGTTCCTCAG	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											63	63	63					17																	78063611		1929	4131	6060	75678206	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2760G>A	17.37:g.78063611G>A	ENSP00000380679:p.Met920Ile		75678206	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702960	0.48412	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.51574	0.7;0.72	4.63	4.63	0.57726	.	.	.	.	.	T	0.57961	0.2089	M	0.82323	2.585	0.39013	D	0.959599	P;P	0.48640	0.553;0.913	B;P	0.45099	0.218;0.469	T	0.67821	-0.5571	9	0.41790	T	0.15	-41.6276	17.808	0.88607	0.0:0.0:1.0:0.0	.	920;703	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	I	920	ENSP00000364011:M920I;ENSP00000380679:M920I	ENSP00000364011:M920I	M	+	3	0	CCDC40	75678206	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	3.269000	0.51592	2.294000	0.77228	0.563000	0.77884	ATG		0.517	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		A	78063611	G	A	78063611	3	1	278	1	0	0	0	0	1	0	0	0	2812	1319	46	2	2826	2	CCDC40	17	78063611	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08	49514694	78063611	3131599	27	15493											
CEP192	55125	broad.mit.edu	37	18	13049205	13049205	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr18:13049205G>T	ENST00000325971.8	+	14	2220	c.627G>T	c.(625-627)atG>atT	p.M209I	CEP192_ENST00000430049.2_Missense_Mutation_p.M330I|CEP192_ENST00000506447.1_Missense_Mutation_p.M805I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	209					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.M209I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGCTAGTATGTCTGATACTT	0.378																																																1	Substitution - Missense(1)	ovary(1)	18											92	90	91					18																	13049205		2203	4300	6503	13039205	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.627G>T	18.37:g.13049205G>T	ENSP00000317156:p.Met209Ile		13039205	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	G	0.629	-0.817857	0.02776	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.05319	3.46;3.46;3.47	5.27	-0.637	0.11504	.	1.437530	0.04543	N	0.388518	T	0.05044	0.0135	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.42965	-0.9420	10	0.36615	T	0.2	1.2997	5.6624	0.17676	0.5622:0.0:0.3016:0.1361	.	330;805;209	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	I	805;209;209;330	ENSP00000427550:M805I;ENSP00000317156:M209I;ENSP00000389190:M330I	ENSP00000317156:M209I	M	+	3	0	CEP192	13039205	0.000000	0.05858	0.076000	0.20297	0.220000	0.24768	-0.151000	0.10175	-0.092000	0.12417	-0.143000	0.13931	ATG		0.378	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		T	13049205	G	T	13049205	3	4	278	1	0	0	0	0	1	0	0	0	3251	1377	48	3	2473	3	CEP192	18	13049205	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08		13049205	65028043	28	15494											
CHAF1A	10036	broad.mit.edu	37	19	4428827	4428827	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr19:4428827G>A	ENST00000301280.5	+	8	1645	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	515					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.R515Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAAGGCCGGCAGCCCCTG	0.597								Chromatin Structure																																								1	Substitution - Missense(1)	ovary(1)	19											37	41	40					19																	4428827		2203	4300	6503	4379827	SO:0001583	missense	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1544G>A	19.37:g.4428827G>A	ENSP00000301280:p.Arg515Gln		4379827	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457769	0.43634	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.16597	2.33	5.24	5.24	0.73138	.	.	.	.	.	T	0.23133	0.0559	M	0.66939	2.045	0.54753	D	0.999986	P	0.46020	0.871	B	0.39094	0.29	T	0.07328	-1.0778	9	0.87932	D	0	-26.2075	17.7889	0.88547	0.0:0.0:1.0:0.0	.	515	Q13111	CAF1A_HUMAN	Q	515	ENSP00000301280:R515Q	ENSP00000301280:R515Q	R	+	2	0	CHAF1A	4379827	0.998000	0.40836	0.757000	0.31301	0.233000	0.25261	3.846000	0.55888	2.433000	0.82419	0.555000	0.69702	CGG		0.597	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		A	4428827	G	A	4428827	3	1	278	1	0	0	0	0	1	0	0	0	3311	1116	39	1	1574	1	CHAF1A	19	4428827	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08		4428827	54700156	29	15495											
HIPK4	147746	broad.mit.edu	37	19	40895777	40895777	+	Silent	SNP	G	G	A	rs370981376		TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr19:40895777G>A	ENST00000291823.2	-	1	317	c.33C>T	c.(31-33)taC>taT	p.Y11Y		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	11	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y11Y(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CGATGATGTCGTAGCAGTCAG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	19						G		0,4406		0,0,2203	61	47	52		33	-8.4	0.4	19		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HIPK4	NM_144685.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		11/617	40895777	1,13005	2203	4300	6503	45587617	SO:0001819	synonymous_variant	147746			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.33C>T	19.37:g.40895777G>A			45587617	A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	CCDS12555.1																																																																																				0.652	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		A	40895777	G	A	40895777	2	1	278	1	0	0	0	0	0	0	0	1	7119	1140	40	1		1	HIPK4	19	40895777	Silent	SNP	G	TCGA-24-2281-01A-01W-0799-08	36466950	40895777	18233206	30	15496											
LIPE	3991	broad.mit.edu	37	19	42907079	42907079	+	Missense_Mutation	SNP	C	C	T	rs145794577		TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr19:42907079C>T	ENST00000244289.4	-	9	2923	c.2647G>A	c.(2647-2649)Gga>Aga	p.G883R	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	883					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.G883R(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCGGAGTTTCCCCTCAGGCTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	19						C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	76	63	67		2647	-3.2	0	19	dbSNP_134	67	0,8600		0,0,4300	no	missense	LIPE	NM_005357.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	883/1077	42907079	1,13005	2203	4300	6503	47598919	SO:0001583	missense	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2647G>A	19.37:g.42907079C>T	ENSP00000244289:p.Gly883Arg		47598919	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	9.327	1.059452	0.19987	2.27E-4	0.0	ENSG00000079435	ENST00000244289	T	0.03358	3.96	5.08	-3.16	0.05217	.	1.139660	0.06567	N	0.747768	T	0.04952	0.0133	L	0.51422	1.61	0.09310	N	1	P	0.50443	0.935	P	0.44394	0.448	T	0.43734	-0.9373	10	0.20046	T	0.44	-5.1393	9.4129	0.38503	0.0:0.4636:0.0:0.5364	.	883	Q05469	LIPS_HUMAN	R	883	ENSP00000244289:G883R	ENSP00000244289:G883R	G	-	1	0	LIPE	47598919	0.000000	0.05858	0.018000	0.16275	0.021000	0.10359	-1.991000	0.01478	-0.603000	0.05767	-0.218000	0.12543	GGA		0.607	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		T	42907079	C	T	42907079	3	4	278	1	0	0	0	0	1	0	0	0	8821	632	22	2	591	2	LIPE	19	42907079	Missense_Mutation	SNP	C	TCGA-24-2281-01A-01W-0799-08	2011302	42907079	16221904	31	15497											
CCDC134	79879	broad.mit.edu	37	22	42205978	42205978	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr22:42205978G>C	ENST00000255784.5	+	3	303	c.199G>C	c.(199-201)Gat>Cat	p.D67H	CCDC134_ENST00000402061.3_Missense_Mutation_p.D67H	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	67						extracellular region (GO:0005576)|membrane (GO:0016020)		p.D67H(1)		large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CAAGATCCTTGATGTCATGCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	22											72	63	66					22																	42205978		2203	4300	6503	40535924	SO:0001583	missense	79879			AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.199G>C	22.37:g.42205978G>C	ENSP00000255784:p.Asp67His		40535924		Missense_Mutation	SNP	ENST00000255784.5	37	CCDS33654.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961318	0.92791	.	.	ENSG00000100147	ENST00000402061;ENST00000255784	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.78059	-0.2352	9	0.59425	D	0.04	-15.8668	18.495	0.90861	0.0:0.0:1.0:0.0	.	67;67	B0QY51;Q9H6E4	.;CC134_HUMAN	H	67	.	ENSP00000255784:D67H	D	+	1	0	CCDC134	40535924	1.000000	0.71417	0.930000	0.37139	0.996000	0.88848	8.823000	0.92018	2.683000	0.91414	0.655000	0.94253	GAT		0.542	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		C	42205978	G	C	42205978	3	2	278	1	0	0	0	0	1	0	0	0	2768	1290	45	3	205	3	CCDC134	22	42205978	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08		42205978	9098588	32	15498											
CCDC134	79879	broad.mit.edu	37	22	42206263	42206263	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chr22:42206263G>A	ENST00000255784.5	+	4	382	c.278G>A	c.(277-279)gGg>gAg	p.G93E	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	93						extracellular region (GO:0005576)|membrane (GO:0016020)		p.G93E(1)		large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CTCCCAGATGGGCCCTTCCCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	22											88	65	73					22																	42206263		2203	4300	6503	40536209	SO:0001583	missense	79879			AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.278G>A	22.37:g.42206263G>A	ENSP00000255784:p.Gly93Glu		40536209		Missense_Mutation	SNP	ENST00000255784.5	37	CCDS33654.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496184	0.85069	.	.	ENSG00000100147	ENST00000255784	.	.	.	5.54	5.54	0.83059	.	0.048456	0.85682	D	0.000000	T	0.58864	0.2152	L	0.48642	1.525	0.58432	D	0.999995	P	0.51537	0.946	P	0.48840	0.592	T	0.51188	-0.8737	9	0.11485	T	0.65	-35.7111	19.871	0.96851	0.0:0.0:1.0:0.0	.	93	Q9H6E4	CC134_HUMAN	E	93	.	ENSP00000255784:G93E	G	+	2	0	CCDC134	40536209	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.480000	0.66820	2.779000	0.95612	0.655000	0.94253	GGG		0.637	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		A	42206263	G	A	42206263	3	1	278	1	0	0	0	0	1	0	0	0	2768	1232	43	2	288	2	CCDC134	22	42206263	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08	285	42206263	9098303	33	15499											
RBM3	5935	broad.mit.edu	37	X	48434994	48434994	+	Splice_Site	SNP	T	T	G			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chrX:48434994T>G	ENST00000376759.3	+	5	476		c.e5+2		RBM3_ENST00000430348.2_Splice_Site|RBM3_ENST00000376755.1_Splice_Site|RBM3_ENST00000354480.2_Splice_Site|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000466764.1_Splice_Site	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3						positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)	p.?(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TAATGGCAGGTGGGTAGCCAA	0.517																																																1	Unknown(1)	ovary(1)	X											59	56	57					X																	48434994		2193	4272	6465	48319938	SO:0001630	splice_region_variant	5935			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.413+2T>G	X.37:g.48434994T>G			48319938		Splice_Site	SNP	ENST00000376759.3	37	CCDS14301.1	.	.	.	.	.	.	.	.	.	.	t	11.97	1.798592	0.31777	.	.	ENSG00000102317	ENST00000376759;ENST00000430348;ENST00000376755;ENST00000354480	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3004	0.43648	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM3	48319938	1.000000	0.71417	0.999000	0.59377	0.387000	0.30353	2.025000	0.41059	1.792000	0.52537	0.481000	0.45027	.		0.517	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060755.1	NM_006743	Intron	G	48434994	T	G	48434994	5	3	278	1	0	0	0	0	0	0	1	0	13132	1710	59	5	429	5	RBM3	23	48434994	Splice_Site	SNP	T	TCGA-24-2281-01A-01W-0799-08		48434994	106835566	34	15500											
SMC1A	8243	broad.mit.edu	37	X	53436003	53436003	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2281-01A-01W-0799-08	TCGA-24-2281-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	df3950c8-2fa2-4fca-a829-0ce4a5d66cea	f7bec841-eed2-4fd0-b81e-ec469f34d40b	g.chrX:53436003G>T	ENST00000322213.4	-	9	1662	c.1535C>A	c.(1534-1536)cCt>cAt	p.P512H	SMC1A_ENST00000375340.6_Missense_Mutation_p.P278H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	512	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.P512H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CACAGAGCCAGGGTAAAGGCG	0.557																																																1	Substitution - Missense(1)	ovary(1)	X											87	78	81					X																	53436003		2203	4300	6503	53452728	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1535C>A	X.37:g.53436003G>T	ENSP00000323421:p.Pro512His		53452728	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746401	0.89663	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86769	-2.17;-2.17	5.28	5.28	0.74379	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94637	0.8271	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.81914	0.758;0.995;0.985	D	0.95622	0.8682	10	0.87932	D	0	.	16.9938	0.86361	0.0:0.0:1.0:0.0	.	278;490;512	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	H	512;278	ENSP00000323421:P512H;ENSP00000364489:P278H	ENSP00000323421:P512H	P	-	2	0	SMC1A	53452728	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.791000	0.99081	2.362000	0.80069	0.600000	0.82982	CCT		0.557	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		T	53436003	G	T	53436003	3	4	278	1	0	0	0	0	1	0	0	0	14784	1000	35	3	2234	3	SMC1A	23	53436003	Missense_Mutation	SNP	G	TCGA-24-2281-01A-01W-0799-08	5001009	53436003	101834557	35	15501											
VCAN	1462	broad.mit.edu	37	5	82834549	82834549	+	Silent	SNP	A	A	G			TCGA-24-2288-01A-01W-0799-08	TCGA-24-2288-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	9c45d709-6fdf-420e-bc04-5ad037ed9d59	9586a2c8-3346-42e0-b2d9-0faee7ad0c8e	g.chr5:82834549A>G	ENST00000265077.3	+	8	6292	c.5727A>G	c.(5725-5727)tcA>tcG	p.S1909S	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.S922S|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1909	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.S1909S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TAGTGATTTCAGAGCGATTAG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	5											102	108	106					5																	82834549		2199	4299	6498	82870305	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5727A>G	5.37:g.82834549A>G			82870305	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		G	82834549	A	G	82834549	2	3	279	1	0	0	0	0	0	0	0	1	17138	175	7	4		4	VCAN	5	82834549	Silent	SNP	A	TCGA-24-2288-01A-01W-0799-08		82834549	98080711	1	15502											
CUL9	23113	broad.mit.edu	37	6	43174224	43174224	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2288-01A-01W-0799-08	TCGA-24-2288-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	9c45d709-6fdf-420e-bc04-5ad037ed9d59	9586a2c8-3346-42e0-b2d9-0faee7ad0c8e	g.chr6:43174224C>T	ENST00000252050.4	+	26	5272	c.5188C>T	c.(5188-5190)Cgt>Tgt	p.R1730C	CUL9_ENST00000354495.3_Missense_Mutation_p.R1620C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1730C|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1730					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.R1730C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCCCTTGACCGTTTCTCCAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	6											98	94	95					6																	43174224		2203	4300	6503	43282202	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5188C>T	6.37:g.43174224C>T	ENSP00000252050:p.Arg1730Cys		43282202	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471546	0.26423	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.75367	-0.93;-0.93;-0.93	5.36	-0.618	0.11576	Cullin, N-terminal (1);Cullin homology (2);	0.872028	0.10570	N	0.659275	T	0.34861	0.0912	L	0.29908	0.895	0.35855	D	0.827037	B;B;B	0.18013	0.025;0.004;0.004	B;B;B	0.09377	0.004;0.002;0.002	T	0.04268	-1.0964	10	0.34782	T	0.22	-0.2176	2.1393	0.03771	0.104:0.2745:0.222:0.3994	.	1620;1730;1730	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1730;1620;1730	ENSP00000252050:R1730C;ENSP00000346490:R1620C;ENSP00000361730:R1730C	ENSP00000252050:R1730C	R	+	1	0	CUL9	43282202	0.018000	0.18449	0.939000	0.37840	0.960000	0.62799	-0.163000	0.09997	-0.486000	0.06744	-0.189000	0.12847	CGT		0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		T	43174224	C	T	43174224	3	4	279	1	0	0	0	0	1	0	0	0	4061	652	23	1	5286	1	CUL9	6	43174224	Missense_Mutation	SNP	C	TCGA-24-2288-01A-01W-0799-08		43174224	127940843	2	15503											
GSR	2936	broad.mit.edu	37	8	30550572	30550572	+	Splice_Site	SNP	C	C	G			TCGA-24-2288-01A-01W-0799-08	TCGA-24-2288-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	9c45d709-6fdf-420e-bc04-5ad037ed9d59	9586a2c8-3346-42e0-b2d9-0faee7ad0c8e	g.chr8:30550572C>G	ENST00000221130.5	-	8	886	c.796G>C	c.(796-798)Gta>Cta	p.V266L	GSR_ENST00000541648.1_Splice_Site_p.V266L|GSR_ENST00000537535.1_Intron|GSR_ENST00000414019.1_Splice_Site_p.V223L|GSR_ENST00000546342.1_Intron	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	266					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.V266L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CTTCTAAGTACCTGCATATCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	8											121	100	107					8																	30550572		2203	4300	6503	30670114	SO:0001630	splice_region_variant	2936				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.796-1G>C	8.37:g.30550572C>G			30670114	C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	CCDS34877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.784|8.784	0.928991|0.928991	0.18131|0.18131	.|.	.|.	ENSG00000104687|ENSG00000104687	ENST00000520888|ENST00000221130;ENST00000414019;ENST00000541648	.|T;T;T	.|0.51574	.|0.7;0.7;0.7	4.72|4.72	4.72|4.72	0.59763|0.59763	.|Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42404|0.42404	0.1201|0.1201	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P	.|0.41131	.|0.739	.|P	.|0.47402	.|0.546	T|T	0.19353|0.19353	-1.0308|-1.0308	5|10	.|0.22109	.|T	.|0.4	-14.6704|-14.6704	15.168|15.168	0.72842|0.72842	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|266	.|P00390	.|GSHR_HUMAN	A|L	219|266;223;266	.|ENSP00000221130:V266L;ENSP00000390065:V223L;ENSP00000444559:V266L	.|ENSP00000221130:V266L	G|V	-|-	2|1	0|0	GSR|GSR	30670114|30670114	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.049000|0.049000	0.14656|0.14656	6.127000|6.127000	0.71642|0.71642	2.168000|2.168000	0.68352|0.68352	0.462000|0.462000	0.41574|0.41574	GGT|GTA		0.488	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1		Missense_Mutation	G	30550572	C	G	30550572	5	3	279	1	0	0	0	0	0	0	1	0	6828	521	18	3	796	3	GSR	8	30550572	Splice_Site	SNP	C	TCGA-24-2288-01A-01W-0799-08		30550572	115813450	3	15504											
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2288-01A-01W-0799-08	TCGA-24-2288-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	9c45d709-6fdf-420e-bc04-5ad037ed9d59	9586a2c8-3346-42e0-b2d9-0faee7ad0c8e	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L	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	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)	GGTGAGGATGGGCCTCCGGTT	0.577		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"	80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(1)	17	GRCh37	CM973401	TP53	M							154	112	126					17																	7577532		2203	4300	6503	7518257	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.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu		7518257	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	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577532	G	A	7577532	3	1	279	1	0	0	0	0	1	0	0	0	16381	1232	43	2	541	2	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-24-2288-01A-01W-0799-08		7577532	73617678	4	15505											
NEFL	4747	broad.mit.edu	37	8	24813902	24813902	+	RNA	SNP	T	T	C			TCGA-24-2289-01A-01W-0799-08	TCGA-24-2289-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	a22e1520-aaa4-4f30-9825-89270b558ba8	aa2be441-7034-4588-bf40-e8ce7cb6877e	g.chr8:24813902T>C	ENST00000221169.5	-	0	722				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)	p.Y43C(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGCGCCGAGTAGCTGGAGTA	0.642																																																1	Substitution - Missense(1)	ovary(1)	8											18	21	20					8																	24813902		2043	4168	6211	24869819			4747				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813902T>C			24869819	B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37																																																																																					0.642	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		C	24813902	T	C	24813902	1	2	280	0	1	0	0	0	0	0	0	0	10315	1638	57	4		4	NEFL	8	24813902	RNA	SNP	T	TCGA-24-2289-01A-01W-0799-08		24813902	121550120	1	15506											
ZNF438	220929	broad.mit.edu	37	10	31137718	31137718	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2289-01A-01W-0799-08	TCGA-24-2289-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	a22e1520-aaa4-4f30-9825-89270b558ba8	aa2be441-7034-4588-bf40-e8ce7cb6877e	g.chr10:31137718A>G	ENST00000361310.3	-	6	1945	c.1616T>C	c.(1615-1617)aTt>aCt	p.I539T	ZNF438_ENST00000436087.2_Missense_Mutation_p.I539T|ZNF438_ENST00000442986.1_Missense_Mutation_p.I539T|ZNF438_ENST00000331737.6_Missense_Mutation_p.I529T|ZNF438_ENST00000413025.1_Missense_Mutation_p.I539T|ZNF438_ENST00000444692.2_Missense_Mutation_p.I529T|ZNF438_ENST00000452305.1_Missense_Mutation_p.I529T|ZNF438_ENST00000538351.2_Missense_Mutation_p.I490T|ZNF438_ENST00000375311.1_Missense_Mutation_p.I103T			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	539					negative regulation of transcription, DNA-templated (GO:0045892)|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.I539T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTTGCGACAAATCCGACAACT	0.483																																																1	Substitution - Missense(1)	ovary(1)	10											261	257	258					10																	31137718		2203	4300	6503	31177724	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1616T>C	10.37:g.31137718A>G	ENSP00000354663:p.Ile539Thr		31177724	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654879	0.47467	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.771999	0.12889	N	0.430742	T	0.16727	0.0402	L	0.33624	1.015	0.21290	N	0.999733	P;P	0.43231	0.801;0.763	P;B	0.46629	0.522;0.387	T	0.16305	-1.0407	10	0.22109	T	0.4	-7.997	14.5878	0.68339	1.0:0.0:0.0:0.0	.	539;529	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	T	529;539;539;539;539;529;529;490;258;103	ENSP00000333571:I529T;ENSP00000354663:I539T;ENSP00000406934:I539T;ENSP00000412363:I539T;ENSP00000387546:I539T;ENSP00000413060:I529T;ENSP00000410898:I529T;ENSP00000445461:I490T;ENSP00000364460:I103T	ENSP00000333571:I529T	I	-	2	0	ZNF438	31177724	0.804000	0.28969	0.112000	0.21494	0.393000	0.30537	6.711000	0.74675	2.043000	0.60533	0.482000	0.46254	ATT		0.483	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31137718	A	G	31137718	3	3	280	1	0	0	0	0	1	0	0	0	17910	101	4	4	878	4	ZNF438	10	31137718	Missense_Mutation	SNP	A	TCGA-24-2289-01A-01W-0799-08		31137718	104397029	2	15507											
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-24-2289-01A-01W-0799-08	TCGA-24-2289-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	a22e1520-aaa4-4f30-9825-89270b558ba8	aa2be441-7034-4588-bf40-e8ce7cb6877e	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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"	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	17	GRCh37	CM941329	TP53	M							102	91	94					17																	7578263		2203	4300	6503	7518988	SO:0001587	stop_gained	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		7518988	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578263	G	A	7578263	4	1	280	1	0	0	0	0	0	1	0	0	16381	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-24-2289-01A-01W-0799-08		7578263	73616947	3	15508											
ZMAT1	84460	broad.mit.edu	37	X	101138612	101138612	+	Missense_Mutation	SNP	C	C	T	rs141908807	byFrequency	TCGA-24-2289-01A-01W-0799-08	TCGA-24-2289-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	a22e1520-aaa4-4f30-9825-89270b558ba8	aa2be441-7034-4588-bf40-e8ce7cb6877e	g.chrX:101138612C>T	ENST00000372782.3	-	7	1834	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R425Q|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R596Q	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	596						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R425Q(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTTTTTTCGATGCTTAAG	0.383																																																1	Substitution - Missense(1)	ovary(1)	X						C	GLN/ARG	0,3835		0,0,0,1632,571	184	158	166		1787	1.6	1	X	dbSNP_134	166	1,6725		0,0,1,2427,1871	no	missense	ZMAT1	NM_001011657.3	43	0,0,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	possibly-damaging	596/639	101138612	1,10560	2203	4299	6502	101025268	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1787G>A	X.37:g.101138612C>T	ENSP00000361868:p.Arg596Gln		101025268	Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291668	0.40594	0.0	1.49E-4	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27104	2.3;2.3;1.69	4.27	1.56	0.23342	.	0.202088	0.30285	N	0.009977	T	0.21427	0.0516	M	0.72118	2.19	0.30656	N	0.754896	P	0.34662	0.462	B	0.22753	0.041	T	0.13124	-1.0521	10	0.51188	T	0.08	-0.958	7.2569	0.26181	0.0:0.6815:0.0:0.3185	.	596	Q5H9K5	ZMAT1_HUMAN	Q	596;596;425	ENSP00000361868:R596Q;ENSP00000437529:R596Q;ENSP00000413044:R425Q	ENSP00000361868:R596Q	R	-	2	0	ZMAT1	101025268	0.001000	0.12720	0.998000	0.56505	0.993000	0.82548	-0.037000	0.12164	0.190000	0.20209	0.600000	0.82982	CGA		0.383	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			T	101138612	C	T	101138612	3	4	280	1	0	0	0	0	1	0	0	0	17691	884	31	1	133	1	ZMAT1	23	101138612	Missense_Mutation	SNP	C	TCGA-24-2289-01A-01W-0799-08		101138612	54131948	4	15509											
PLOD1	5351	broad.mit.edu	37	1	12018662	12018662	+	Silent	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr1:12018662C>T	ENST00000196061.4	+	9	960	c.933C>T	c.(931-933)ctC>ctT	p.L311L	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.L358L	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	311					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.L311L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	TCCTGCGGCTCCACTACCCCC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	1											66	58	61					1																	12018662		2203	4300	6503	11941249	SO:0001819	synonymous_variant	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.933C>T	1.37:g.12018662C>T			11941249	B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	CCDS142.1																																																																																				0.597	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		T	12018662	C	T	12018662	2	4	281	1	0	0	0	0	0	0	0	1	12101	842	30	2		2	PLOD1	1	12018662	Silent	SNP	C	TCGA-24-2290-01A-01W-0799-08		12018662	237231959	1	15510											
GRIK3	2899	broad.mit.edu	37	1	37346431	37346431	+	Silent	SNP	G	G	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr1:37346431G>A	ENST00000373091.3	-	3	370	c.354C>T	c.(352-354)acC>acT	p.T118T	GRIK3_ENST00000373093.4_Silent_p.T118T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	118					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.T118T(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGACGGCATTGGTGCAGGAGC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	1											125	117	120					1																	37346431		2203	4300	6503	37119018	SO:0001819	synonymous_variant	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.354C>T	1.37:g.37346431G>A			37119018	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	CCDS416.1																																																																																				0.627	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		A	37346431	G	A	37346431	2	1	281	1	0	0	0	0	0	0	0	1	6775	1335	47	2		2	GRIK3	1	37346431	Silent	SNP	G	TCGA-24-2290-01A-01W-0799-08	25327769	37346431	211904190	2	15511											
LRRC41	10489	broad.mit.edu	37	1	46744680	46744680	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr1:46744680G>A	ENST00000343304.6	-	10	2581	c.2296C>T	c.(2296-2298)Cac>Tac	p.H766Y	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	766					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.H766Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGGCGCAGGTGACCAAAGGCT	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											40	46	44					1																	46744680		2203	4300	6503	46517267	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2296C>T	1.37:g.46744680G>A	ENSP00000343298:p.His766Tyr		46517267	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	CCDS533.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497679	0.26861	.	.	ENSG00000132128	ENST00000343304	T	0.52295	0.67	5.35	4.43	0.53597	.	0.073131	0.56097	D	0.000027	T	0.26702	0.0653	N	0.14661	0.345	0.42620	D	0.993347	B	0.28713	0.22	B	0.26310	0.068	T	0.09662	-1.0664	10	0.19590	T	0.45	-11.1244	9.2581	0.37595	0.0758:0.0:0.7781:0.1461	.	766	Q15345	LRC41_HUMAN	Y	766	ENSP00000343298:H766Y	ENSP00000343298:H766Y	H	-	1	0	LRRC41	46517267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.271000	0.58902	2.505000	0.84491	0.484000	0.47621	CAC		0.602	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		A	46744680	G	A	46744680	3	1	281	1	0	0	0	0	1	0	0	0	8999	1290	45	2	146	2	LRRC41	1	46744680	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	9398249	46744680	202505941	3	15512											
CDKN2C	1031	broad.mit.edu	37	1	51439625	51439625	+	Missense_Mutation	SNP	G	G	A	rs142420524	byFrequency	TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr1:51439625G>A	ENST00000262662.1	+	4	2224	c.190G>A	c.(190-192)Gat>Aat	p.D64N	CDKN2C_ENST00000396148.1_Missense_Mutation_p.D64N|CDKN2C_ENST00000371761.3_Missense_Mutation_p.D64N			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	64					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.D64N(1)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		TGCTAATCCCGATTTGAAAGA	0.443			D		"glioma, MM"								G|||	2	0.000399361	0.0015	0	5008	,	,		20290	0		0	False		,,,				2504	0				Melanoma(47;50 1155 4767 22863 47597)		Rec	yes		1	1p32	1031	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"		"O, L"	13	Whole gene deletion(11)|Substitution - Missense(1)|Unknown(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)|ovary(1)	1						G	ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	99	99	99		190,190	2	1	1	dbSNP_134	99	0,8600		0,0,4300	yes	missense,missense	CDKN2C	NM_001262.2,NM_078626.2	23,23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	64/169,64/169	51439625	2,13004	2203	4300	6503	51212213	SO:0001583	missense	1031			BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.190G>A	1.37:g.51439625G>A	ENSP00000262662:p.Asp64Asn		51212213	Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	CCDS555.1	.	.	.	.	.	.	.	.	.	.	G	4.074	0.011661	0.07912	4.54E-4	0.0	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.58940	0.3;0.3;0.3	5.31	1.98	0.26296	Ankyrin repeat-containing domain (4);	0.266421	0.42420	N	0.000704	T	0.16428	0.0395	N	0.00325	-1.645	0.28590	N	0.909705	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	10	0.02654	T	1	-3.2819	8.4697	0.32977	0.6071:0.0:0.3929:0.0	.	64	P42773	CDN2C_HUMAN	N	64	ENSP00000262662:D64N;ENSP00000379452:D64N;ENSP00000360826:D64N	ENSP00000262662:D64N	D	+	1	0	CDKN2C	51212213	0.447000	0.25673	0.988000	0.46212	0.984000	0.73092	0.796000	0.26986	0.194000	0.20326	0.655000	0.94253	GAT		0.443	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		A	51439625	G	A	51439625	3	1	281	1	0	0	0	0	1	0	0	0	3165	1058	37	1	196	1	CDKN2C	1	51439625	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	4694945	51439625	197810996	4	15513											
LRRIQ3	127255	broad.mit.edu	37	1	74648285	74648285	+	Silent	SNP	A	A	G			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr1:74648285A>G	ENST00000395089.1	-	2	509	c.510T>C	c.(508-510)ctT>ctC	p.L170L	LRRIQ3_ENST00000354431.4_Silent_p.L170L|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000370911.3_Silent_p.L170L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	170	LRRCT.							p.L170L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATCTTTCAGGAAGATGCCAGT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	1											80	80	80					1																	74648285		2203	4299	6502	74420873	SO:0001819	synonymous_variant	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.510T>C	1.37:g.74648285A>G			74420873	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	CCDS41350.1																																																																																				0.348	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		G	74648285	A	G	74648285	2	3	281	1	0	0	0	0	0	0	0	1	9030	233	9	4		4	LRRIQ3	1	74648285	Silent	SNP	A	TCGA-24-2290-01A-01W-0799-08	23208660	74648285	174602336	5	15514											
PAPPA2	60676	broad.mit.edu	37	1	176760585	176760594	+	Frame_Shift_Del	DEL	GTGGAGTACA	GTGGAGTACA	-			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	GTGGAGTACA	GTGGAGTACA	-	-	GTGGAGTACA	GTGGAGTACA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr1:176760585_176760594delGTGGAGTACA	ENST00000367662.3	+	19	6151_6160	c.4987_4996delGTGGAGTACA	c.(4987-4998)gtggagtacaaafs	p.VEYK1663fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1663	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1664D(1)|p.V1663fs*17(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGAATTCTGTGGAGTACAAATGTGAACA	0.414																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)	1																																								175027217	SO:0001589	frameshift_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4987_4996delGTGGAGTACA	1.37:g.176760585_176760594delGTGGAGTACA	ENSP00000356634:p.Val1663fs		175027208	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Del	DEL	ENST00000367662.3	37	CCDS41438.1																																																																																				0.414	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			-	176760594	GTGGAGTACA	-	176760585	7	5	281	1	0	1	0	1	0	0	0	0	11433	1377	48	0	5110	0	PAPPA2	1	176760585	Frame_Shift_Del	DEL	GTGGAGTACA	TCGA-24-2290-01A-01W-0799-08	102112300	176760585	72490036	6	15515											
KDM5B	10765	broad.mit.edu	37	1	202715088	202715088	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr1:202715088G>T	ENST00000367265.3	-	16	3385	c.2221C>A	c.(2221-2223)Ctc>Atc	p.L741I	KDM5B_ENST00000367264.2_Missense_Mutation_p.L777I	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	741					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L878I(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATAGGGTAGAGATCATCCAGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											155	144	148					1																	202715088		2203	4300	6503	200981711	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2221C>A	1.37:g.202715088G>T	ENSP00000356234:p.Leu741Ile		200981711	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154975	0.94686	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.95238	-3.65;-3.65;-3.65	5.96	5.96	0.96718	Zinc finger, C5HC2-type (1);	0.000000	0.85682	D	0.000000	D	0.97256	0.9103	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.97377	0.9980	10	0.87932	D	0	-16.2777	13.5822	0.61909	0.0707:0.0:0.9293:0.0	.	777;741	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	I	741;583;777;583;110	ENSP00000356234:L741I;ENSP00000356233:L777I;ENSP00000235790:L583I	ENSP00000235790:L583I	L	-	1	0	KDM5B	200981711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.799000	0.69101	2.826000	0.97356	0.655000	0.94253	CTC		0.393	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		T	202715088	G	T	202715088	3	4	281	1	0	0	0	0	1	0	0	0	8134	942	33	3	2461	3	KDM5B	1	202715088	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	25954503	202715088	46535533	7	15516											
GREB1	9687	broad.mit.edu	37	2	11755345	11755345	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr2:11755345A>T	ENST00000381486.2	+	20	3551	c.3251A>T	c.(3250-3252)aAc>aTc	p.N1084I	GREB1_ENST00000396123.1_Missense_Mutation_p.N82I|GREB1_ENST00000234142.5_Missense_Mutation_p.N1084I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1084						integral component of membrane (GO:0016021)		p.N1084I(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGGCTAGGAACGAGGCCTTG	0.577																																					Ovarian(39;850 945 2785 23371 33093)											1	Substitution - Missense(1)	ovary(1)	2											74	79	78					2																	11755345		2103	4224	6327	11672796	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3251A>T	2.37:g.11755345A>T	ENSP00000370896:p.Asn1084Ile		11672796	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.362258	0.24684	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.21543	3.32;3.32;2.0	5.32	-7.65	0.01281	.	0.931300	0.09174	N	0.838343	T	0.12646	0.0307	L	0.36672	1.1	0.09310	N	1	B	0.22983	0.078	B	0.15870	0.014	T	0.24657	-1.0154	10	0.26408	T	0.33	-25.0896	10.446	0.44495	0.2782:0.1989:0.5229:0.0	.	1084	Q4ZG55	GREB1_HUMAN	I	1084;1084;82	ENSP00000370896:N1084I;ENSP00000234142:N1084I;ENSP00000379429:N82I	ENSP00000234142:N1084I	N	+	2	0	GREB1	11672796	0.009000	0.17119	0.015000	0.15790	0.885000	0.51271	0.455000	0.21843	-1.381000	0.02112	-0.466000	0.05196	AAC		0.577	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11755345	A	T	11755345	3	4	281	1	0	0	0	0	1	0	0	0	6760	43	2	5	3433	5	GREB1	2	11755345	Missense_Mutation	SNP	A	TCGA-24-2290-01A-01W-0799-08		11755345	231444028	8	15517											
TTN	7273	broad.mit.edu	37	2	179628950	179628950	+	Silent	SNP	A	A	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr2:179628950A>T	ENST00000591111.1	-	43	10292	c.10068T>A	c.(10066-10068)acT>acA	p.T3356T	TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Silent_p.T3356T|TTN_ENST00000359218.5_Silent_p.T3310T|TTN_ENST00000460472.2_Silent_p.T3310T|TTN_ENST00000360870.5_Silent_p.T3356T|TTN_ENST00000342175.6_Silent_p.T3310T|TTN_ENST00000589042.1_Silent_p.T3356T			Q8WZ42	TITIN_HUMAN	titin	13672	Ig-like 20.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T3356T(2)|p.T3310T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCTTCAGAAGTGACAGTGT	0.453																																																3	Substitution - coding silent(3)	ovary(3)	2											92	92	92					2																	179628950		2203	4300	6503	179337195	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10068T>A	2.37:g.179628950A>T			179337195	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179628950	A	T	179628950	2	4	281	1	0	0	0	0	0	0	0	1	16735	59	3	5		5	TTN	2	179628950	Silent	SNP	A	TCGA-24-2290-01A-01W-0799-08	167873605	179628950	63570423	9	15518											
SETD2	29072	broad.mit.edu	37	3	47098746	47098746	+	Nonsense_Mutation	SNP	A	A	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr3:47098746A>T	ENST00000409792.3	-	15	6570	c.6528T>A	c.(6526-6528)taT>taA	p.Y2176*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2176	Low charge region.|Pro-rich.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.Y2176*(1)|p.Y1673*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGGGATCCACATAGGCCTGCA	0.542			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	ovary(2)	3											151	133	139					3																	47098746		2203	4300	6503	47073750	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6528T>A	3.37:g.47098746A>T	ENSP00000386759:p.Tyr2176*		47073750	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	45	11.991448	0.99625	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.25	0.276	0.15663	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7366	0.40392	0.5494:0.0:0.4506:0.0	.	.	.	.	X	2176	.	ENSP00000386759:Y2176X	Y	-	3	2	SETD2	47073750	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	2.124000	0.42006	-0.025000	0.13918	-0.250000	0.11733	TAT		0.542	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47098746	A	T	47098746	4	4	281	1	0	0	0	0	0	1	0	0	14134	224	8	5	1194	5	SETD2	3	47098746	Nonsense_Mutation	SNP	A	TCGA-24-2290-01A-01W-0799-08		47098746	150923684	10	15519											
COL7A1	1294	broad.mit.edu	37	3	48625776	48625776	+	Silent	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr3:48625776C>T	ENST00000328333.8	-	20	2756	c.2649G>A	c.(2647-2649)ctG>ctA	p.L883L	COL7A1_ENST00000454817.1_Silent_p.L883L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	883	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L883L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCGCAGCCTCAGCGAGTGCT	0.672																																																1	Substitution - coding silent(1)	ovary(1)	3											23	26	25					3																	48625776		2203	4297	6500	48600780	SO:0001819	synonymous_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2649G>A	3.37:g.48625776C>T			48600780	Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																				0.672	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		T	48625776	C	T	48625776	2	4	281	1	0	0	0	0	0	0	0	1	3704	813	29	2		2	COL7A1	3	48625776	Silent	SNP	C	TCGA-24-2290-01A-01W-0799-08	1527030	48625776	149396654	11	15520											
PODXL2	50512	broad.mit.edu	37	3	127379886	127379886	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr3:127379886G>A	ENST00000342480.6	+	3	1054	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	339					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.G339R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						ACTGGCCCCTGGAGACATGGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	3											73	60	65					3																	127379886		2203	4300	6503	128862576	SO:0001583	missense	50512			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1015G>A	3.37:g.127379886G>A	ENSP00000345359:p.Gly339Arg		128862576	Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.630379	0.00813	.	.	ENSG00000114631	ENST00000342480	T	0.20598	2.06	4.95	-1.4	0.08968	.	1.900910	0.02330	N	0.073875	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24083	-1.0170	10	0.14252	T	0.57	1.1657	7.2716	0.26260	0.4657:0.244:0.2903:0.0	.	339	Q9NZ53	PDXL2_HUMAN	R	339	ENSP00000345359:G339R	ENSP00000345359:G339R	G	+	1	0	PODXL2	128862576	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	-0.330000	0.07925	-0.035000	0.13691	-1.530000	0.00923	GGA		0.567	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		A	127379886	G	A	127379886	3	1	281	1	0	0	0	0	1	0	0	0	12181	1349	47	2	1025	2	PODXL2	3	127379886	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	78754110	127379886	70642544	12	15521											
GPR149	344758	broad.mit.edu	37	3	154056059	154056059	+	Splice_Site	SNP	C	C	T	rs199967865		TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr3:154056059C>T	ENST00000389740.2	-	4	1724	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	542					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R542H(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATAACCGGAACGCTGGGGACA	0.413													C|||	1	0.000199681	0	0	5008	,	,		19095	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3											76	77	77					3																	154056059		1876	4103	5979	155538753	SO:0001630	splice_region_variant	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1624-1G>A	3.37:g.154056059C>T			155538753		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.3	4.519500	0.85495	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.77	4.89	0.63831	.	0.063289	0.64402	D	0.000006	T	0.74230	0.3689	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.76462	-0.2950	9	0.87932	D	0	-13.5998	15.0929	0.72211	0.0:0.9311:0.0:0.0689	.	542	Q86SP6	GP149_HUMAN	H	542	.	ENSP00000374390:R542H	R	-	2	0	GPR149	155538753	1.000000	0.71417	0.981000	0.43875	0.825000	0.46686	5.746000	0.68681	2.726000	0.93360	0.655000	0.94253	CGT		0.413	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	Missense_Mutation	T	154056059	C	T	154056059	5	4	281	1	0	0	0	0	0	0	1	0	6654	550	19	1	574	1	GPR149	3	154056059	Splice_Site	SNP	C	TCGA-24-2290-01A-01W-0799-08	26676173	154056059	43966371	13	15522											
PEX5L	51555	broad.mit.edu	37	3	179527398	179527398	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr3:179527398T>C	ENST00000467460.1	-	12	1543	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	PEX5L_ENST00000465751.1_Missense_Mutation_p.T381A|PEX5L_ENST00000464614.1_Missense_Mutation_p.T297A|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.T213A|PEX5L_ENST00000472994.1_Missense_Mutation_p.T346A|PEX5L_ENST00000485199.1_Missense_Mutation_p.T370A|PEX5L_ENST00000263962.8_Missense_Mutation_p.T403A|PEX5L_ENST00000476138.1_Missense_Mutation_p.T362A|PEX5L_ENST00000392649.3_Missense_Mutation_p.T297A	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	405					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.T405A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCAGTGTTAGTATAACTCACA	0.393																																																1	Substitution - Missense(1)	ovary(1)	3											104	99	100					3																	179527398		2203	4300	6503	181010092	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1213A>G	3.37:g.179527398T>C	ENSP00000419975:p.Thr405Ala		181010092	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.786640	0.90367	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.80508	2.5	0.80722	D	1	D;D;D;D;D;D	0.76494	0.988;0.988;0.996;0.999;0.997;0.998	D;D;P;D;D;D	0.78314	0.941;0.941;0.785;0.991;0.987;0.98	D	0.89522	0.3779	10	0.62326	D	0.03	-20.5811	16.5885	0.84745	0.0:0.0:0.0:1.0	.	346;381;297;403;370;405	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	A	405;403;370;403;297;213;362;293;346;297;381	ENSP00000419975:T405A;ENSP00000263962:T403A;ENSP00000418440:T370A;ENSP00000376420:T297A;ENSP00000418665:T213A;ENSP00000420555:T362A;ENSP00000418054:T346A;ENSP00000417270:T297A;ENSP00000419348:T381A	ENSP00000263962:T403A	T	-	1	0	PEX5L	181010092	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.831000	0.86748	2.317000	0.78254	0.460000	0.39030	ACT		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		C	179527398	T	C	179527398	3	2	281	1	0	0	0	0	1	0	0	0	11749	1638	57	4	683	4	PEX5L	3	179527398	Missense_Mutation	SNP	T	TCGA-24-2290-01A-01W-0799-08	25471339	179527398	18495032	14	15523											
ECE2	9718	broad.mit.edu	37	3	184007250	184007250	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr3:184007250G>A	ENST00000402825.3	+	12	1754	c.1754G>A	c.(1753-1755)cGg>cAg	p.R585Q	ECE2_ENST00000359140.4_Missense_Mutation_p.R438Q|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.R467Q|ECE2_ENST00000357474.5_Missense_Mutation_p.R513Q	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	585	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.R438Q(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCGAAATCCGGACCGCATTT	0.622											OREG0015946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	3											46	42	43					3																	184007250		2203	4300	6503	185489944	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1754G>A	3.37:g.184007250G>A	ENSP00000384223:p.Arg585Gln	1988	185489944	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943354	0.92593	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.03	5.03	0.67393	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	L	0.47716	1.5	0.58432	D	0.999994	D;D;D;P;D;D;D	0.65815	0.973;0.99;0.99;0.945;0.988;0.988;0.995	P;P;P;P;P;P;D	0.63283	0.703;0.85;0.85;0.526;0.706;0.706;0.913	T	0.79293	-0.1863	10	0.38643	T	0.18	-29.072	17.1028	0.86654	0.0:0.0:1.0:0.0	.	187;438;456;467;513;438;585	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	Q	585;438;467;513;459	ENSP00000384223:R585Q;ENSP00000352052:R438Q;ENSP00000385846:R467Q;ENSP00000350066:R513Q;ENSP00000398444:R459Q	ENSP00000350066:R513Q	R	+	2	0	ECE2	185489944	0.015000	0.18098	0.959000	0.39883	0.960000	0.62799	1.836000	0.39191	2.631000	0.89168	0.549000	0.68633	CGG		0.622	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		A	184007250	G	A	184007250	3	1	281	1	0	0	0	0	1	0	0	0	4890	1116	39	1	2364	1	ECE2	3	184007250	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	4479852	184007250	14015180	15	15524											
ETFDH	2110	broad.mit.edu	37	4	159627795	159627804	+	Frame_Shift_Del	DEL	CGGCTCAAGC	CGGCTCAAGC	-			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	CGGCTCAAGC	CGGCTCAAGC	-	-	CGGCTCAAGC	CGGCTCAAGC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr4:159627795_159627804delCGGCTCAAGC	ENST00000511912.1	+	12	1815_1824	c.1483_1492delCGGCTCAAGC	c.(1483-1494)cggctcaagccafs	p.RLKP495fs	ETFDH_ENST00000307738.5_Frame_Shift_Del_p.RLKP448fs	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	495					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)	p.R495L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TGACTTTGAACGGCTCAAGCCAGCCAAGGA	0.371																																																1	Substitution - Missense(1)	lung(1)	4																																								159847254	SO:0001589	frameshift_variant	2110			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1483_1492delCGGCTCAAGC	4.37:g.159627795_159627804delCGGCTCAAGC	ENSP00000426638:p.Arg495fs		159847245	B4E3R9|J3KND9|Q7Z347	Frame_Shift_Del	DEL	ENST00000511912.1	37	CCDS3800.1																																																																																				0.371	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			-	159627804	CGGCTCAAGC	-	159627795	7	5	281	1	0	1	0	1	0	0	0	0	5271	527	19	0	1529	0	ETFDH	4	159627795	Frame_Shift_Del	DEL	CGGCTCAAGC	TCGA-24-2290-01A-01W-0799-08		159627795	31526481	16	15525											
PCDHB12	56124	broad.mit.edu	37	5	140589987	140589987	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr5:140589987T>G	ENST00000239450.2	+	1	1697	c.1508T>G	c.(1507-1509)cTg>cGg	p.L503R	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L166R	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L503R(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCTCCCTGGTCTCCATC	0.667																																																1	Substitution - Missense(1)	ovary(1)	5											83	85	85					5																	140589987		2203	4298	6501	140570171	SO:0001583	missense	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1508T>G	5.37:g.140589987T>G	ENSP00000239450:p.Leu503Arg		140570171	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317088	0.40996	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.51574	0.7;0.7	3.41	-0.17	0.13335	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58850	0.2151	L	0.53729	1.69	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47947	-0.9077	9	0.87932	D	0	.	8.1236	0.30986	0.5349:0.0:0.0:0.4651	.	503	Q9Y5F1	PCDBC_HUMAN	R	166;503;123	ENSP00000440199:L166R;ENSP00000239450:L503R	ENSP00000239450:L503R	L	+	2	0	PCDHB12	140570171	0.000000	0.05858	0.005000	0.12908	0.913000	0.54294	0.444000	0.21661	0.310000	0.22990	0.397000	0.26171	CTG		0.667	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		G	140589987	T	G	140589987	3	3	281	1	0	0	0	0	1	0	0	0	11537	1580	55	5	1510	5	PCDHB12	5	140589987	Missense_Mutation	SNP	T	TCGA-24-2290-01A-01W-0799-08		140589987	40325273	17	15526											
PCDHGC3	5098	broad.mit.edu	37	5	140855822	140855830	+	In_Frame_Del	DEL	GTGGGCAAC	GTGGGCAAC	-			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	GTGGGCAAC	GTGGGCAAC	-	-	GTGGGCAAC	GTGGGCAAC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr5:140855822_140855830delGTGGGCAAC	ENST00000308177.3	+	1	243_251	c.139_147delGTGGGCAAC	c.(139-147)gtgggcaacdel	p.VGN47del	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G48A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTTTCGCTGTGGGCAACGTGGTCGCGA	0.565																																																2	Substitution - Missense(2)	large_intestine(2)	5																																								140836014	SO:0001651	inframe_deletion	5098			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.139_147delGTGGGCAAC	5.37:g.140855822_140855830delGTGGGCAAC	ENSP00000312070:p.Val47_Asn49del		140836006	O60622|Q08192|Q9Y5C4	In_Frame_Del	DEL	ENST00000308177.3	37	CCDS4261.1																																																																																				0.565	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		-	140855830	GTGGGCAAC	-	140855822	7	5	281	1	0	1	0	1	0	0	0	0	11569	1377	48	0	141	0	PCDHGC3	5	140855822	In_Frame_Del	DEL	GTGGGCAAC	TCGA-24-2290-01A-01W-0799-08	265835	140855822	40059438	18	15527											
ABLIM3	22885	broad.mit.edu	37	5	148627434	148627434	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr5:148627434C>A	ENST00000506113.1	+	17	2123	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	ABLIM3_ENST00000508983.1_Missense_Mutation_p.S514R|ABLIM3_ENST00000504238.1_Missense_Mutation_p.S436R|ABLIM3_ENST00000356541.3_Missense_Mutation_p.S436R|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.S452R|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S547R|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.S33R|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	547					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.S547R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCCGGAGCTCCACCAGCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	5											30	32	32					5																	148627434		2203	4300	6503	148607627	SO:0001583	missense	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1641C>A	5.37:g.148627434C>A	ENSP00000425394:p.Ser547Arg		148607627	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561578	0.45590	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.62	2.88	0.33553	.	0.099520	0.64402	N	0.000002	T	0.33323	0.0859	N	0.03154	-0.405	0.33569	D	0.598356	P;D;D;D	0.71674	0.589;0.998;0.998;0.975	B;D;D;P	0.79108	0.361;0.992;0.988;0.575	T	0.44636	-0.9315	10	0.39692	T	0.17	.	4.8967	0.13753	0.1385:0.5817:0.0:0.2798	.	33;452;436;547	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	R	452;436;547;547;436;514;33;32	ENSP00000315841:S452R;ENSP00000348938:S436R;ENSP00000310309:S547R;ENSP00000425394:S547R;ENSP00000421183:S436R;ENSP00000420855:S514R;ENSP00000430150:S33R	ENSP00000310309:S547R	S	+	3	2	ABLIM3	148607627	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.523000	0.35932	0.326000	0.23384	-1.131000	0.01979	AGC		0.607	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		A	148627434	C	A	148627434	3	1	281	1	0	0	0	0	1	0	0	0	96	796	28	3	1707	3	ABLIM3	5	148627434	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08	7771612	148627434	32287826	19	15528											
TRIM27	5987	broad.mit.edu	37	6	28872365	28872365	+	Frame_Shift_Del	DEL	A	A	-			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	-	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr6:28872365delA	ENST00000377199.3	-	8	1380	c.1024delT	c.(1024-1026)tacfs	p.Y342fs	TRIM27_ENST00000377194.3_Frame_Shift_Del_p.Y342fs	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	342	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y342fs*34(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGTTGGAGGTAACTGTACCGC	0.552			T	RET	papillary thyroid																																		Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	1	Deletion - Frameshift(1)	ovary(1)	6											52	55	54					6																	28872365		1510	2709	4219	28980344	SO:0001589	frameshift_variant	5987			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1024delT	6.37:g.28872365delA	ENSP00000366404:p.Tyr342fs		28980344	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Frame_Shift_Del	DEL	ENST00000377199.3	37	CCDS4654.1																																																																																				0.552	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		-	28872365	A	-	28872365	7	5	281	1	0	1	0	1	0	0	0	0	16501	362	13	0	521	0	TRIM27	6	28872365	Frame_Shift_Del	DEL	A	TCGA-24-2290-01A-01W-0799-08		28872365	142242702	20	15529											
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr6:29012589G>T	ENST00000377175.1	-	1	428	c.364C>A	c.(364-366)Cgt>Agt	p.R122S		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122G(1)|p.R122S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	6											101	82	89					6																	29012589		1511	2709	4220	29120568	SO:0001583	missense	26692			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"GPCR / Class A : Olfactory receptors"	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.364C>A	6.37:g.29012589G>T	ENSP00000366380:p.Arg122Ser		29120568	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452302	0.63290	.	.	ENSG00000204704	ENST00000377175	T	0.77620	-1.11	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.131262	0.35407	N	0.003240	D	0.85146	0.5630	H	0.98646	4.29	0.42680	D	0.993549	P	0.44139	0.827	B	0.42386	0.386	D	0.90935	0.4793	10	0.87932	D	0	.	16.3937	0.83548	0.0:0.0:1.0:0.0	.	122	Q9Y3N9	OR2W1_HUMAN	S	122	ENSP00000366380:R122S	ENSP00000366380:R122S	R	-	1	0	OR2W1	29120568	1.000000	0.71417	0.978000	0.43139	0.849000	0.48306	4.000000	0.57039	2.175000	0.68902	0.591000	0.81541	CGT		0.398	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			T	29012589	G	T	29012589	3	4	281	1	0	0	0	0	1	0	0	0	11032	1058	37	3	602	3	OR2W1	6	29012589	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	140224	29012589	142102478	21	15530											
MED23	9439	broad.mit.edu	37	6	131908848	131908848	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr6:131908848C>T	ENST00000368068.3	-	29	4257	c.4078G>A	c.(4078-4080)Gtg>Atg	p.V1360M	MED23_ENST00000545957.1_Missense_Mutation_p.V1001M|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Missense_Mutation_p.V1366M|MED23_ENST00000403834.3_Missense_Mutation_p.V1366M	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1360					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.V1360M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GACACGGGCACCTGATTAGAC	0.468																																																1	Substitution - Missense(1)	ovary(1)	6											133	113	120					6																	131908848		2203	4300	6503	131950541	SO:0001583	missense	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.4078G>A	6.37:g.131908848C>T	ENSP00000357047:p.Val1360Met		131950541	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.670324|4.670324	0.88348|0.88348	.|.	.|.	ENSG00000112282|ENSG00000112282	ENST00000368060|ENST00000368068;ENST00000403834;ENST00000368058;ENST00000545957	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.290587	.|0.37669	.|N	.|0.001984	.|T	.|0.51669	.|0.1688	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.36733	.|0.567	.|B	.|0.37387	.|0.248	.|T	.|0.56092	.|-0.8036	.|8	.|0.49607	.|T	.|0.09	.|-5.1399	20.0609|20.0609	0.97674|0.97674	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1360	.|Q9ULK4	.|MED23_HUMAN	.|M	-1|1360;1366;1366;1001	.|.	.|ENSP00000357037:V1366M	.|V	-|-	.|1	.|0	MED23|MED23	131950541|131950541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	5.720000|5.720000	0.68470|0.68470	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	.|GTG		0.468	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			T	131908848	C	T	131908848	3	4	281	1	0	0	0	0	1	0	0	0	9441	521	18	2	39	2	MED23	6	131908848	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08	102896259	131908848	39206219	22	15531											
TAAR8	83551	broad.mit.edu	37	6	132873948	132873948	+	Silent	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr6:132873948C>T	ENST00000275200.1	+	1	117	c.117C>T	c.(115-117)agC>agT	p.S39S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	39					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.S39S(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CGGCGTTTAGCTTTGGGTCTT	0.443																																																1	Substitution - coding silent(1)	ovary(1)	6											178	180	179					6																	132873948		2203	4300	6503	132915641	SO:0001819	synonymous_variant	83551			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.117C>T	6.37:g.132873948C>T			132915641	Q5VUQ0	Silent	SNP	ENST00000275200.1	37	CCDS5154.1																																																																																				0.443	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		T	132873948	C	T	132873948	2	4	281	1	0	0	0	0	0	0	0	1	15493	796	28	2		2	TAAR8	6	132873948	Silent	SNP	C	TCGA-24-2290-01A-01W-0799-08	965100	132873948	38241119	23	15532											
RSPH3	83861	broad.mit.edu	37	6	159401923	159401923	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr6:159401923C>T	ENST00000252655.1	-	6	1357	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	RSPH3_ENST00000367069.2_Missense_Mutation_p.E248K|RSPH3_ENST00000449822.1_Missense_Mutation_p.E152K|RSPH3_ENST00000297262.3_Missense_Mutation_p.E294K	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	390								p.E390K(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGTGATGTCTCGTTGTGCTTG	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											250	199	216					6																	159401923		2203	4300	6503	159321911	SO:0001583	missense	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1168G>A	6.37:g.159401923C>T	ENSP00000252655:p.Glu390Lys		159321911	Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103879	0.76983	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.81614	2.55	0.51767	D	0.99993	D;D	0.89917	0.999;1.0	D;D	0.72982	0.972;0.979	T	0.17592	-1.0364	10	0.39692	T	0.17	-34.8515	18.2981	0.90154	0.0:1.0:0.0:0.0	.	294;390	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	K	248;152;390;294	ENSP00000356036:E248K;ENSP00000393195:E152K;ENSP00000252655:E390K;ENSP00000297262:E294K	ENSP00000252655:E390K	E	-	1	0	RSPH3	159321911	1.000000	0.71417	0.001000	0.08648	0.063000	0.16089	7.148000	0.77389	2.660000	0.90430	0.467000	0.42956	GAG		0.502	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		T	159401923	C	T	159401923	3	4	281	1	0	0	0	0	1	0	0	0	13708	893	31	1	526	1	RSPH3	6	159401923	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08	26527975	159401923	11713144	24	15533											
CRHR2	1395	broad.mit.edu	37	7	30695301	30695301	+	Silent	SNP	C	C	T	rs376936813		TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr7:30695301C>T	ENST00000471646.1	-	10	1365	c.948G>A	c.(946-948)ctG>ctA	p.L316L	CRHR2_ENST00000506074.2_Silent_p.L316L|CRHR2_ENST00000348438.4_Silent_p.L343L|CRHR2_ENST00000341843.4_Silent_p.L302L	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	316					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.L316L(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCAGGAGGGGCAGGAGCACCA	0.617																																																1	Substitution - coding silent(1)	ovary(1)	7											148	144	145					7																	30695301		2203	4300	6503	30661826	SO:0001819	synonymous_variant	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.948G>A	7.37:g.30695301C>T			30661826	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	CCDS5429.1																																																																																				0.617	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			T	30695301	C	T	30695301	2	4	281	1	0	0	0	0	0	0	0	1	3872	697	25	2		2	CRHR2	7	30695301	Silent	SNP	C	TCGA-24-2290-01A-01W-0799-08		30695301	128443362	25	15534											
MOGAT3	346606	broad.mit.edu	37	7	100839237	100839237	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr7:100839237G>T	ENST00000223114.4	-	7	1182	c.1016C>A	c.(1015-1017)aCc>aAc	p.T339N	MOGAT3_ENST00000379423.3_Missense_Mutation_p.H271Q|MOGAT3_ENST00000440203.2_3'UTR	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	339					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.T339N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CTAGATGAAGGTGAGGCAGGT	0.592																																																1	Substitution - Missense(1)	ovary(1)	7											72	71	72					7																	100839237		2203	4300	6503	100625957	SO:0001583	missense	346606			AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.1016C>A	7.37:g.100839237G>T	ENSP00000223114:p.Thr339Asn		100625957	Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	CCDS5714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.11|17.11	3.304409|3.304409	0.60305|0.60305	.|.	.|.	ENSG00000106384|ENSG00000106384	ENST00000379423|ENST00000223114	T|T	0.29142|0.13778	1.58|2.56	5.03|5.03	2.07|2.07	0.26955|0.26955	.|.	.|0.728518	.|0.13675	.|N	.|0.370610	T|T	0.10165|0.10165	0.0249|0.0249	L|L	0.27975|0.27975	0.815|0.815	0.18873|0.18873	N|N	0.999985|0.999985	P|P	0.41102|0.43231	0.738|0.801	B|P	0.38562|0.45829	0.276|0.494	T|T	0.19353|0.19353	-1.0308|-1.0308	9|10	0.29301|0.20046	T|T	0.29|0.44	.|.	4.7954|4.7954	0.13270|0.13270	0.1957:0.1785:0.6258:0.0|0.1957:0.1785:0.6258:0.0	.|.	271|339	Q86VF5-2|Q86VF5	.|MOGT3_HUMAN	Q|N	271|339	ENSP00000368734:H271Q|ENSP00000223114:T339N	ENSP00000368734:H271Q|ENSP00000223114:T339N	H|T	-|-	3|2	2|0	MOGAT3|MOGAT3	100625957|100625957	0.001000|0.001000	0.12720|0.12720	0.918000|0.918000	0.36340|0.36340	0.022000|0.022000	0.10575|0.10575	0.208000|0.208000	0.17415|0.17415	1.130000|1.130000	0.42092|0.42092	0.644000|0.644000	0.83932|0.83932	CAC|ACC		0.592	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		T	100839237	G	T	100839237	3	4	281	1	0	0	0	0	1	0	0	0	9696	1261	44	3	13	3	MOGAT3	7	100839237	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	70143936	100839237	58299426	26	15535											
CCDC136	64753	broad.mit.edu	37	7	128445926	128445926	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr7:128445926C>T	ENST00000297788.4	+	7	1427	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	CCDC136_ENST00000378685.4_Missense_Mutation_p.R392W|CCDC136_ENST00000464832.1_Missense_Mutation_p.R404W|CCDC136_ENST00000487361.1_Missense_Mutation_p.R354W	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	354						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R354W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGGTGCTTCGGTTTCAGAC	0.607																																																1	Substitution - Missense(1)	ovary(1)	7																																								128233162	SO:0001583	missense	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1060C>T	7.37:g.128445926C>T	ENSP00000297788:p.Arg354Trp		128233162	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241073	0.79912	.	.	ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524	T;T;T;T	0.51817	0.7;0.69;1.37;0.88	5.32	5.32	0.75619	.	0.176277	0.45867	D	0.000333	T	0.65923	0.2738	M	0.71581	2.175	0.51482	D	0.99992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.68614	-0.5362	10	0.72032	D	0.01	-26.2818	11.5641	0.50794	0.1784:0.8215:0.0:0.0	.	354;354;392	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	W	392;404;354;354;354;354	ENSP00000367956:R392W;ENSP00000419515:R404W;ENSP00000420509:R354W;ENSP00000297788:R354W	ENSP00000297788:R354W	R	+	1	2	CCDC136	128233162	0.840000	0.29493	0.995000	0.50966	0.990000	0.78478	1.531000	0.36018	2.504000	0.84457	0.655000	0.94253	CGG		0.607	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		T	128445926	C	T	128445926	3	4	281	1	0	0	0	0	1	0	0	0	2770	875	31	1	1086	1	CCDC136	7	128445926	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08	27606689	128445926	30692737	27	15536											
ATG9B	285973	broad.mit.edu	37	7	150718288	150718288	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr7:150718288A>T	ENST00000377974.2	-	5	1025	c.950T>A	c.(949-951)cTg>cAg	p.L317Q	ATG9B_ENST00000605938.1_Missense_Mutation_p.L317Q|ATG9B_ENST00000444312.1_Missense_Mutation_p.C55S|ATG9B_ENST00000605952.1_Missense_Mutation_p.L317Q|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	317					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.L317Q(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGATGTGCAGGGCCTCCCT	0.617																																																1	Substitution - Missense(1)	ovary(1)	7											55	65	62					7																	150718288		1962	4161	6123	150349221	SO:0001583	missense	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.950T>A	7.37:g.150718288A>T	ENSP00000475005:p.Leu317Gln		150349221	A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.69|16.69	3.194050|3.194050	0.58017|0.58017	.|.	.|.	ENSG00000248602|ENSG00000248602	ENST00000444312|ENST00000377974;ENST00000397266;ENST00000545613	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.155169	.|0.44483	.|D	.|0.000449	T|T	0.78566|0.78566	0.4303|0.4303	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.84727|0.84727	0.0743|0.0743	4|7	0.49607|0.87932	T|D	0.09|0	-11.7261|-11.7261	13.0516|13.0516	0.58958|0.58958	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|317	.|Q674R7	.|ATG9B_HUMAN	S|Q	55|317	.|.	ENSP00000441766:C55S|ENSP00000444232:L317Q	C|L	-|-	1|2	0|0	AC010973.1|AC010973.1	150349221|150349221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	9.263000|9.263000	0.95617|0.95617	1.963000|1.963000	0.57068|0.57068	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.617	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		T	150718288	A	T	150718288	3	4	281	1	0	0	0	0	1	0	0	0	1103	188	7	5	1859	5	ATG9B	7	150718288	Missense_Mutation	SNP	A	TCGA-24-2290-01A-01W-0799-08	22272362	150718288	8420375	28	15537											
BMP1	649	broad.mit.edu	37	8	22064471	22064471	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr8:22064471A>T	ENST00000306385.5	+	17	3008	c.2338A>T	c.(2338-2340)Acc>Tcc	p.T780S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	780	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.T780S(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CATCTCCAGCACCCCCGGGCA	0.637																																																1	Substitution - Missense(1)	ovary(1)	8											75	58	64					8																	22064471		2203	4300	6503	22120416	SO:0001583	missense	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2338A>T	8.37:g.22064471A>T	ENSP00000305714:p.Thr780Ser		22120416	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.914489	0.92178	.	.	ENSG00000168487	ENST00000306385	T	0.27256	1.68	4.19	4.19	0.49359	CUB (5);	0.000000	0.39687	U	0.001296	T	0.40791	0.1131	L	0.49455	1.56	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.11179	-1.0598	10	0.21014	T	0.42	.	12.3802	0.55303	1.0:0.0:0.0:0.0	.	780	P13497	BMP1_HUMAN	S	780	ENSP00000305714:T780S	ENSP00000305714:T780S	T	+	1	0	BMP1	22120416	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.163000	0.77524	1.752000	0.51891	0.379000	0.24179	ACC		0.637	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		T	22064471	A	T	22064471	3	4	281	1	0	0	0	0	1	0	0	0	1456	159	6	5	2494	5	BMP1	8	22064471	Missense_Mutation	SNP	A	TCGA-24-2290-01A-01W-0799-08		22064471	124299551	29	15538											
ZFHX4	79776	broad.mit.edu	37	8	77618158	77618158	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr8:77618158G>T	ENST00000521891.2	+	2	2283	c.1835G>T	c.(1834-1836)gGc>gTc	p.G612V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G612V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G612V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G612V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G612V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGGGCAGTGGCATCGAGTGT	0.567										HNSCC(33;0.089)																																						1	Substitution - Missense(1)	ovary(1)	8											78	84	82					8																	77618158		2086	4209	6295	77780713	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1835G>T	8.37:g.77618158G>T	ENSP00000430497:p.Gly612Val		77780713	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707075	0.68615	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55052	0.57;0.59;0.56;0.54	5.54	5.54	0.83059	.	0.000000	0.45361	U	0.000367	T	0.71307	0.3324	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.973;0.988;0.988;1.0	T	0.71984	-0.4427	10	0.87932	D	0	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	612;612;612;612	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	612	ENSP00000430497:G612V;ENSP00000399605:G612V;ENSP00000050961:G612V;ENSP00000430848:G612V	ENSP00000050961:G612V	G	+	2	0	ZFHX4	77780713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.249000	0.95470	2.884000	0.98904	0.655000	0.94253	GGC		0.567	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77618158	G	T	77618158	3	4	281	1	0	0	0	0	1	0	0	0	17635	1203	42	3	1837	3	ZFHX4	8	77618158	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	55553687	77618158	68745864	30	15539											
MTBP	27085	broad.mit.edu	37	8	121531006	121531006	+	Silent	SNP	T	T	C			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr8:121531006T>C	ENST00000305949.1	+	20	2604	c.2559T>C	c.(2557-2559)tgT>tgC	p.C853C		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	853	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.C853C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTCATGAATGTTTCACTGCAT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	8											147	136	139					8																	121531006		2203	4300	6503	121600187	SO:0001819	synonymous_variant	27085				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2559T>C	8.37:g.121531006T>C			121600187	B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	CCDS6333.1																																																																																				0.358	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		C	121531006	T	C	121531006	2	2	281	1	0	0	0	0	0	0	0	1	9912	1731	60	4		4	MTBP	8	121531006	Silent	SNP	T	TCGA-24-2290-01A-01W-0799-08	43912848	121531006	24833016	31	15540											
SMC5	23137	broad.mit.edu	37	9	72897445	72897445	+	Silent	SNP	A	A	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr9:72897445A>T	ENST00000361138.5	+	7	985	c.927A>T	c.(925-927)cgA>cgT	p.R309R		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	309					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.R309R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TAACATGTCGAATTGAAGAAA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	9											90	88	89					9																	72897445		2203	4300	6503	72087265	SO:0001819	synonymous_variant	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.927A>T	9.37:g.72897445A>T			72087265	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	ENST00000361138.5	37	CCDS6632.1																																																																																				0.358	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		T	72897445	A	T	72897445	2	4	281	1	0	0	0	0	0	0	0	1	14789	233	9	5		5	SMC5	9	72897445	Silent	SNP	A	TCGA-24-2290-01A-01W-0799-08		72897445	68315986	32	15541											
TTF1	7270	broad.mit.edu	37	9	135263597	135263597	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr9:135263597C>A	ENST00000334270.2	-	8	2280	c.2241G>T	c.(2239-2241)aaG>aaT	p.K747N		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	747					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K747N(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TAGTCATCCTCTTGGTTAGAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	9											86	80	82					9																	135263597		2203	4300	6503	134253418	SO:0001583	missense	7270			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2241G>T	9.37:g.135263597C>A	ENSP00000333920:p.Lys747Asn		134253418	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445411	0.43429	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11604	2.76	5.9	2.95	0.34219	SANT domain, DNA binding (1);Homeodomain-related (1);	0.156867	0.42172	D	0.000747	T	0.09024	0.0223	L	0.47716	1.5	0.29463	N	0.857607	P	0.38020	0.615	B	0.36186	0.219	T	0.14559	-1.0468	10	0.27082	T	0.32	.	7.2667	0.26234	0.0:0.7197:0.0:0.2803	.	747	Q15361	TTF1_HUMAN	N	747	ENSP00000333920:K747N	ENSP00000245588:K747N	K	-	3	2	TTF1	134253418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.653000	0.24902	0.337000	0.23665	0.650000	0.86243	AAG		0.358	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		A	135263597	C	A	135263597	3	1	281	1	0	0	0	0	1	0	0	0	16718	912	32	3	492	3	TTF1	9	135263597	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08	62366152	135263597	5949834	33	15542											
IL2RA	3559	broad.mit.edu	37	10	6063497	6063497	+	Missense_Mutation	SNP	C	C	T	rs55841382		TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr10:6063497C>T	ENST00000379959.3	-	4	700	c.527G>A	c.(526-528)aGg>aAg	p.R176K	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Missense_Mutation_p.R176K	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	176	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)	p.R176K(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGGGTCCACCTTGTCTTCCC	0.552																																																1	Substitution - Missense(1)	ovary(1)	10											198	176	184					10																	6063497		2203	4300	6503	6103503	SO:0001583	missense	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.527G>A	10.37:g.6063497C>T	ENSP00000369293:p.Arg176Lys		6103503	Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	7.778	0.708992	0.15239	.	.	ENSG00000134460	ENST00000379959;ENST00000256876	T;T	0.64618	-0.11;-0.11	4.41	-1.08	0.09936	Complement control module (2);Sushi/SCR/CCP (3);	0.683107	0.13866	N	0.357333	T	0.42787	0.1218	L	0.47716	1.5	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.29274	-1.0017	10	0.06891	T	0.86	-36.2391	4.1785	0.10363	0.0:0.3736:0.3315:0.2949	rs55841382	176	P01589	IL2RA_HUMAN	K	176	ENSP00000369293:R176K;ENSP00000256876:R176K	ENSP00000256876:R176K	R	-	2	0	IL2RA	6103503	0.000000	0.05858	0.007000	0.13788	0.071000	0.16799	-3.667000	0.00398	-0.016000	0.14127	0.650000	0.86243	AGG		0.552	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		T	6063497	C	T	6063497	3	4	281	1	0	0	0	0	1	0	0	0	7686	681	24	2	311	2	IL2RA	10	6063497	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08		6063497	129471250	34	15543											
NLRP10	338322	broad.mit.edu	37	11	7984901	7984901	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr11:7984901C>T	ENST00000328600.2	-	1	303	c.142G>A	c.(142-144)Gag>Aag	p.E48K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	48	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.E48K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCTCCAACTCCCCTCTGGCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	11											73	76	75					11																	7984901		2201	4296	6497	7941477	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.142G>A	11.37:g.7984901C>T	ENSP00000327763:p.Glu48Lys		7941477	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054460	0.36277	.	.	ENSG00000182261	ENST00000328600;ENST00000526590	T;T	0.49720	0.77;0.77	4.13	3.19	0.36642	Pyrin (2);DEATH-like (2);	0.179758	0.26971	N	0.021566	T	0.47746	0.1462	L	0.52759	1.655	0.25807	N	0.984445	B	0.31503	0.326	B	0.41332	0.354	T	0.50242	-0.8851	10	0.72032	D	0.01	.	10.5414	0.45035	0.0:0.8029:0.1971:0.0	.	48	Q86W26	NAL10_HUMAN	K	48	ENSP00000327763:E48K;ENSP00000436255:E48K	ENSP00000327763:E48K	E	-	1	0	NLRP10	7941477	0.978000	0.34361	1.000000	0.80357	0.220000	0.24768	0.062000	0.14389	1.013000	0.39391	0.563000	0.77884	GAG		0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		T	7984901	C	T	7984901	3	4	281	1	0	0	0	0	1	0	0	0	10472	864	30	2	1833	2	NLRP10	11	7984901	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08		7984901	127021615	35	15544											
SORL1	6653	broad.mit.edu	37	11	121457023	121457023	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr11:121457023G>A	ENST00000260197.7	+	27	3928	c.3799G>A	c.(3799-3801)Gat>Aat	p.D1267N	SORL1_ENST00000532694.1_Missense_Mutation_p.D113N|SORL1_ENST00000525532.1_Missense_Mutation_p.D211N|SORL1_ENST00000534286.1_Missense_Mutation_p.D177N	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1267	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.D1267N(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGATGGCTCCGATGAACAGCA	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											178	167	171					11																	121457023		2203	4299	6502	120962233	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3799G>A	11.37:g.121457023G>A	ENSP00000260197:p.Asp1267Asn		120962233	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520922	0.85495	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.99214	-5.57;-5.57;-5.57;-5.57	5.7	5.7	0.88788	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97978	1.0347	10	0.87932	D	0	.	19.8326	0.96642	0.0:0.0:1.0:0.0	.	1267	Q92673	SORL_HUMAN	N	1267;211;113;177	ENSP00000260197:D1267N;ENSP00000434634:D211N;ENSP00000432131:D113N;ENSP00000436447:D177N	ENSP00000260197:D1267N	D	+	1	0	SORL1	120962233	1.000000	0.71417	0.683000	0.30040	0.473000	0.32948	8.695000	0.91298	2.686000	0.91538	0.591000	0.81541	GAT		0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		A	121457023	G	A	121457023	3	1	281	1	0	0	0	0	1	0	0	0	14937	1058	37	1	3905	1	SORL1	11	121457023	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	113472122	121457023	13549493	36	15545											
OR10G8	219869	broad.mit.edu	37	11	123901211	123901211	+	Silent	SNP	G	G	T	rs550409745		TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr11:123901211G>T	ENST00000431524.1	+	1	915	c.882G>T	c.(880-882)gtG>gtT	p.V294V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V294V(2)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACAAGGAGGTGAAGAAAGCTC	0.473																																																2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	11											103	97	99					11																	123901211		2201	4299	6500	123406421	SO:0001819	synonymous_variant	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.882G>T	11.37:g.123901211G>T			123406421	B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	CCDS31704.1																																																																																				0.473	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		T	123901211	G	T	123901211	2	4	281	1	0	0	0	0	0	0	0	1	10903	1277	45	3		3	OR10G8	11	123901211	Silent	SNP	G	TCGA-24-2290-01A-01W-0799-08	2444188	123901211	11105305	37	15546											
KIRREL3	84623	broad.mit.edu	37	11	126306875	126306875	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr11:126306875C>A	ENST00000525144.2	-	12	1632	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	KIRREL3_ENST00000525704.2_Missense_Mutation_p.E461D|KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.E461D	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	461	Ig-like C2-type 5.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E420D(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ATGTGCCCGACTCCAGAACGT	0.647																																																1	Substitution - Missense(1)	ovary(1)	11											54	62	59					11																	126306875		2140	4247	6387	125812085	SO:0001583	missense	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1383G>T	11.37:g.126306875C>A	ENSP00000435466:p.Glu461Asp		125812085	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177161	0.38413	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.67865	-0.29;-0.29;-0.29	4.56	3.63	0.41609	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133580	0.49916	N	0.000134	T	0.59972	0.2233	L	0.45285	1.41	0.80722	D	1	B;B;B	0.17667	0.005;0.0;0.023	B;B;B	0.33521	0.022;0.01;0.165	T	0.58160	-0.7685	10	0.66056	D	0.02	-15.6675	7.2642	0.26219	0.1702:0.7425:0.0:0.0874	.	461;461;461	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	D	461	ENSP00000435466:E461D;ENSP00000434081:E461D;ENSP00000435094:E461D	ENSP00000435466:E461D	E	-	3	2	KIRREL3	125812085	1.000000	0.71417	0.971000	0.41717	0.670000	0.39368	1.298000	0.33412	0.864000	0.35578	0.407000	0.27541	GAG		0.647	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		A	126306875	C	A	126306875	3	1	281	1	0	0	0	0	1	0	0	0	8326	564	20	3	1084	3	KIRREL3	11	126306875	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08	2405664	126306875	8699641	38	15547											
NFRKB	4798	broad.mit.edu	37	11	129739827	129739827	+	Silent	SNP	G	G	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr11:129739827G>A	ENST00000446488.3	-	23	3196	c.3093C>T	c.(3091-3093)gcC>gcT	p.A1031A	NFRKB_ENST00000524794.1_Silent_p.A1056A|NFRKB_ENST00000524746.1_Silent_p.A1031A|NFRKB_ENST00000304521.5_Silent_p.A1031A	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1031					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)	p.A1056A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TGGATGAAGGGGCACTGGCTG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	11											163	128	140					11																	129739827		2201	4297	6498	129245037	SO:0001819	synonymous_variant	4798				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3093C>T	11.37:g.129739827G>A			129245037	Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	37	CCDS44770.1																																																																																				0.537	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		A	129739827	G	A	129739827	2	1	281	1	0	0	0	0	0	0	0	1	10384	1219	43	2		2	NFRKB	11	129739827	Silent	SNP	G	TCGA-24-2290-01A-01W-0799-08	3432952	129739827	5266689	39	15548											
NRIP2	83714	broad.mit.edu	37	12	2944056	2944056	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr12:2944056C>G	ENST00000337508.4	-	1	134	c.94G>C	c.(94-96)Gag>Cag	p.E32Q		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	32					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)	p.E32Q(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACCGAGTCCTCTCTGCTTCTT	0.602																																																1	Substitution - Missense(1)	ovary(1)	12											64	58	60					12																	2944056		2203	4300	6503	2814317	SO:0001583	missense	83714			AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.94G>C	12.37:g.2944056C>G	ENSP00000337501:p.Glu32Gln		2814317	A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363038	0.24684	.	.	ENSG00000053702	ENST00000337508;ENST00000546074	.	.	.	3.98	2.06	0.26882	.	.	.	.	.	T	0.17450	0.0419	N	0.22421	0.69	0.09310	N	1	B	0.29432	0.244	B	0.22386	0.039	T	0.22243	-1.0222	8	0.06891	T	0.86	.	5.7804	0.18304	0.0:0.7363:0.0:0.2637	.	32	Q9BQI9	NRIP2_HUMAN	Q	32	.	ENSP00000337501:E32Q	E	-	1	0	NRIP2	2814317	0.000000	0.05858	0.012000	0.15200	0.216000	0.24613	-0.103000	0.10940	0.874000	0.35823	0.484000	0.47621	GAG		0.602	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		G	2944056	C	G	2944056	3	3	281	1	0	0	0	0	1	0	0	0	10653	922	32	3	775	3	NRIP2	12	2944056	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08		2944056	130907839	40	15549											
SLC16A7	9194	broad.mit.edu	37	12	60168888	60168888	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr12:60168888A>G	ENST00000261187.4	+	4	976	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	SLC16A7_ENST00000552432.1_Missense_Mutation_p.Y271C|SLC16A7_ENST00000552024.1_Missense_Mutation_p.Y271C|SLC16A7_ENST00000547379.1_Missense_Mutation_p.Y271C|SLC16A7_ENST00000543448.1_Missense_Mutation_p.Y172C	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	271					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.Y271C(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTGGCTCCATATGCTAAAGAC	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											91	89	90					12																	60168888		2203	4300	6503	58455155	SO:0001583	missense	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.812A>G	12.37:g.60168888A>G	ENSP00000261187:p.Tyr271Cys		58455155	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.466036	0.63625	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.76	4.61	0.57282	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057343	0.64402	D	0.000001	D	0.82783	0.5112	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84545	0.0641	9	.	.	.	.	12.5087	0.55995	0.8747:0.0:0.0:0.1253	.	271	O60669	MOT2_HUMAN	C	271;271;271;271;271;172	ENSP00000449547:Y271C;ENSP00000448071:Y271C;ENSP00000448742:Y271C;ENSP00000446722:Y271C;ENSP00000261187:Y271C;ENSP00000443731:Y172C	.	Y	+	2	0	SLC16A7	58455155	1.000000	0.71417	0.960000	0.40013	0.781000	0.44180	7.436000	0.80404	1.088000	0.41272	-0.344000	0.07964	TAT		0.383	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		G	60168888	A	G	60168888	3	3	281	1	0	0	0	0	1	0	0	0	14416	449	16	4	822	4	SLC16A7	12	60168888	Missense_Mutation	SNP	A	TCGA-24-2290-01A-01W-0799-08	57224832	60168888	73683007	41	15550											
POLE	5426	broad.mit.edu	37	12	133220531	133220531	+	Silent	SNP	G	G	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr12:133220531G>A	ENST00000320574.5	-	33	4225	c.4182C>T	c.(4180-4182)gtC>gtT	p.V1394V	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Silent_p.V1367V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1394					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.V1394V(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGAGATTGTAGACCATGTTGG	0.502								DNA polymerases (catalytic subunits)																																								1	Substitution - coding silent(1)	ovary(1)	12											217	183	194					12																	133220531		2203	4300	6503	131730604	SO:0001819	synonymous_variant	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4182C>T	12.37:g.133220531G>A			131730604	Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	CCDS9278.1																																																																																				0.502	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		A	133220531	G	A	133220531	2	1	281	1	0	0	0	0	0	0	0	1	12196	929	33	2		2	POLE	12	133220531	Silent	SNP	G	TCGA-24-2290-01A-01W-0799-08	73051643	133220531	631364	42	15551											
FAM71D	161142	broad.mit.edu	37	14	67671410	67671410	+	3'UTR	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr14:67671410C>T	ENST00000556046.1	+	0	1057							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S172S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CCCTCATCTCCCTCTTGAATC	0.468																																																1	Substitution - coding silent(1)	ovary(1)	14											94	82	86					14																	67671410		2203	4300	6503	66741163	SO:0001624	3_prime_UTR_variant	161142				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 54"	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*572C>T	14.37:g.67671410C>T			66741163	Q86VN4	Silent	SNP	ENST00000556046.1	37																																																																																					0.468	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526		T	67671410	C	T	67671410	1	4	281	0	1	0	0	0	0	0	0	0	5610	610	22	2		2	FAM71D	14	67671410	3'UTR	SNP	C	TCGA-24-2290-01A-01W-0799-08		67671410	39678130	43	15552											
OR4N4	283694	broad.mit.edu	37	15	22382565	22382565	+	Silent	SNP	C	C	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr15:22382565C>A	ENST00000328795.4	+	1	184	c.93C>A	c.(91-93)atC>atA	p.I31I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I31I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTGTGCTGATCTTAATTTTCT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	15											158	158	158					15																	22382565		2190	4262	6452	19883929	SO:0001819	synonymous_variant	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.93C>A	15.37:g.22382565C>A			19883929	Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																				0.413	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			A	22382565	C	A	22382565	2	1	281	1	0	0	0	0	0	0	0	1	11078	903	32	3		3	OR4N4	15	22382565	Silent	SNP	C	TCGA-24-2290-01A-01W-0799-08		22382565	80148827	44	15553											
EDC4	23644	broad.mit.edu	37	16	67915665	67915665	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr16:67915665G>A	ENST00000358933.5	+	22	3160	c.2921G>A	c.(2920-2922)cGt>cAt	p.R974H	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	974					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R974H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCTGCAGCGTCTGTGTACC	0.597																																																1	Substitution - Missense(1)	ovary(1)	16											43	42	42					16																	67915665		2198	4300	6498	66473166	SO:0001583	missense	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2921G>A	16.37:g.67915665G>A	ENSP00000351811:p.Arg974His		66473166	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436725	0.83885	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.91	5.91	0.95273	.	0.342393	0.33792	N	0.004546	T	0.43612	0.1255	L	0.27053	0.805	0.34302	D	0.684471	D	0.67145	0.996	P	0.49502	0.613	T	0.56685	-0.7938	9	0.51188	T	0.08	-12.408	13.2074	0.59805	0.0732:0.0:0.9268:0.0	.	974	Q6P2E9	EDC4_HUMAN	H	974	.	ENSP00000351811:R974H	R	+	2	0	EDC4	66473166	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.519000	0.67074	2.822000	0.97130	0.558000	0.71614	CGT		0.597	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		A	67915665	G	A	67915665	3	1	281	1	0	0	0	0	1	0	0	0	4908	1145	40	1	3007	1	EDC4	16	67915665	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08		67915665	22439088	45	15554											
KARS	3735	broad.mit.edu	37	16	75662510	75662510	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr16:75662510A>T	ENST00000302445.3	-	13	1691	c.1652T>A	c.(1651-1653)aTt>aAt	p.I551N	KARS_ENST00000319410.5_Missense_Mutation_p.I579N|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	551					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.I551N(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GACTCGATCAATGCCCATGCC	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											95	91	93					16																	75662510		2198	4300	6498	74220011	SO:0001583	missense	3735			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1652T>A	16.37:g.75662510A>T	ENSP00000303043:p.Ile551Asn		74220011	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430120	0.62844	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.81247	-1.47;-1.47	6.16	6.16	0.99307	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.043106	0.85682	D	0.000000	D	0.94785	0.8316	H	0.99732	4.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.97042	0.9758	10	0.87932	D	0	-7.1771	15.6411	0.77001	1.0:0.0:0.0:0.0	.	579;551	Q15046-2;Q15046	.;SYK_HUMAN	N	579;551	ENSP00000325448:I579N;ENSP00000303043:I551N	ENSP00000303043:I551N	I	-	2	0	KARS	74220011	1.000000	0.71417	0.927000	0.36925	0.068000	0.16541	9.277000	0.95755	2.367000	0.80283	0.528000	0.53228	ATT		0.542	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		T	75662510	A	T	75662510	3	4	281	1	0	0	0	0	1	0	0	0	7980	101	4	5	149	5	KARS	16	75662510	Missense_Mutation	SNP	A	TCGA-24-2290-01A-01W-0799-08	7746845	75662510	14692243	46	15555											
TP53	7157	broad.mit.edu	37	17	7577117	7577117	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr17:7577117A>C	ENST00000269305.4	-	8	1010	c.821T>G	c.(820-822)gTt>gGt	p.V274G	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V274G|TP53_ENST00000445888.2_Missense_Mutation_p.V274G|TP53_ENST00000359597.4_Missense_Mutation_p.V274G|TP53_ENST00000420246.2_Missense_Mutation_p.V274G|TP53_ENST00000413465.2_Intron	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	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(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)	ACAGGCACAAACACGCACCTC	0.552		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"	52	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(1)	breast(8)|upper_aerodigestive_tract(6)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|stomach(1)|soft_tissue(1)|endometrium(1)|skin(1)|oesophagus(1)|pancreas(1)	17											70	60	64					17																	7577117		2203	4300	6503	7517842	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.821T>G	17.37:g.7577117A>C	ENSP00000269305:p.Val274Gly		7517842	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	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257582	0.80246	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	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);	0.312804	0.33382	N	0.004980	D	0.99802	0.9915	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.61697	0.99;0.983;0.97;0.977	D;D;D;D	0.91635	0.998;0.996;0.999;0.998	D	0.96805	0.9592	10	0.87932	D	0	-10.2267	12.5624	0.56288	1.0:0.0:0.0:0.0	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	274;274;274;274;274;263;142	ENSP00000352610:V274G;ENSP00000269305:V274G;ENSP00000398846:V274G;ENSP00000391127:V274G;ENSP00000391478:V274G;ENSP00000425104:V142G	ENSP00000269305:V274G	V	-	2	0	TP53	7517842	0.970000	0.33590	0.681000	0.30009	0.775000	0.43874	9.060000	0.93907	2.067000	0.61834	0.379000	0.24179	GTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577117	A	C	7577117	3	2	281	1	0	0	0	0	1	0	0	0	16381	43	2	5	465	5	TP53	17	7577117	Missense_Mutation	SNP	A	TCGA-24-2290-01A-01W-0799-08		7577117	73618093	47	15556											
EFNB3	1949	broad.mit.edu	37	17	7611766	7611766	+	Silent	SNP	G	G	C			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr17:7611766G>C	ENST00000226091.2	+	3	826	c.429G>C	c.(427-429)ggG>ggC	p.G143G		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	143	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)	p.G143G(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CATCGGATGGGACCCGGGAGG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	17											40	39	39					17																	7611766		2203	4300	6503	7552491	SO:0001819	synonymous_variant	1949			U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.429G>C	17.37:g.7611766G>C			7552491	B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Silent	SNP	ENST00000226091.2	37	CCDS11120.1																																																																																				0.607	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		C	7611766	G	C	7611766	2	2	281	1	0	0	0	0	0	0	0	1	4957	1161	41	3		3	EFNB3	17	7611766	Silent	SNP	G	TCGA-24-2290-01A-01W-0799-08	34649	7611766	73583444	48	15557											
C18orf22	79863	broad.mit.edu	37	18	77798522	77798522	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr18:77798522C>A	ENST00000306735.5	+	4	534	c.396C>A	c.(394-396)gaC>gaA	p.D132E	RP11-795F19.5_ENST00000564012.1_Intron|RBFA_ENST00000262197.7_Missense_Mutation_p.D132E|RP11-795F19.5_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	132					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.D132E(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGACTCCAGACTTCTCAGCCT	0.537																																																1	Substitution - Missense(1)	ovary(1)	18											93	94	94					18																	77798522		2203	4300	6503	75899510	SO:0001583	missense	79863			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.396C>A	18.37:g.77798522C>A	ENSP00000305696:p.Asp132Glu		75899510	Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674771	0.67928	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.71341	-0.25;-0.56	4.68	0.232	0.15381	K homology domain-like, alpha/beta (1);Ribosome-binding factor A domain (1);	0.101750	0.42682	D	0.000663	T	0.81230	0.4779	M	0.85859	2.78	0.38310	D	0.943221	D;D	0.76494	0.999;0.99	D;D	0.69142	0.962;0.942	T	0.81090	-0.1090	10	0.87932	D	0	-5.057	8.1694	0.31245	0.0:0.451:0.0:0.549	.	132;132	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	E	132	ENSP00000262197:D132E;ENSP00000305696:D132E	ENSP00000262197:D132E	D	+	3	2	RBFA	75899510	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	0.485000	0.22324	0.090000	0.17273	0.561000	0.74099	GAC		0.537	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		A	77798522	C	A	77798522	3	1	281	1	0	0	0	0	1	0	0	0	1898	564	20	3	410	3	C18orf22	18	77798522	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08		77798522	278726	49	15558											
ECH1	1891	broad.mit.edu	37	19	39322127	39322127	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr19:39322127T>C	ENST00000221418.4	-	2	314	c.82A>G	c.(82-84)Agt>Ggt	p.S28G	ECH1_ENST00000597805.1_Intron|AC104534.3_ENST00000594769.1_Silent_p.S197S	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	28					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)	p.S28G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGGCTAATACTGAGTCCCGGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											52	55	54					19																	39322127		2203	4300	6503	44013967	SO:0001583	missense	1891			U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"enoyl Coenzyme A hydratase 1, peroxisomal"			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.82A>G	19.37:g.39322127T>C	ENSP00000221418:p.Ser28Gly		44013967	A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	37	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843152	0.16963	.	.	ENSG00000104823	ENST00000221418	T	0.64260	-0.09	5.04	-4.89	0.03103	.	1.603470	0.03218	N	0.177148	T	0.38878	0.1057	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07009	-1.0795	10	0.23891	T	0.37	.	1.4211	0.02312	0.2233:0.1133:0.3424:0.321	.	28;28	B4DVS4;Q13011	.;ECH1_HUMAN	G	28	ENSP00000221418:S28G	ENSP00000221418:S28G	S	-	1	0	ECH1	44013967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.719000	0.04974	-0.925000	0.03775	-2.353000	0.00241	AGT		0.567	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			C	39322127	T	C	39322127	3	2	281	1	0	0	0	0	1	0	0	0	4892	1580	55	4	940	4	ECH1	19	39322127	Missense_Mutation	SNP	T	TCGA-24-2290-01A-01W-0799-08		39322127	19806856	50	15559											
ZNF582	147948	broad.mit.edu	37	19	56895626	56895626	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr19:56895626C>A	ENST00000301310.4	-	5	1318	c.1160G>T	c.(1159-1161)aGa>aTa	p.R387I	ZNF582_ENST00000586929.1_Missense_Mutation_p.R387I	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R387I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AGTGTGAATTCTCTGATGTTG	0.428																																					Ovarian(183;1887 2032 4349 30507 51343)											1	Substitution - Missense(1)	ovary(1)	19											98	96	97					19																	56895626		2203	4300	6503	61587438	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1160G>T	19.37:g.56895626C>A	ENSP00000301310:p.Arg387Ile		61587438	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035212	0.75617	.	.	ENSG00000018869	ENST00000301310	T	0.24908	1.83	4.76	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37761	N	0.001946	T	0.46268	0.1384	M	0.68728	2.09	0.46356	D	0.999007	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.40213	-0.9575	10	0.59425	D	0.04	.	10.3293	0.43812	0.0:0.9095:0.0:0.0905	.	387;418	Q96NG8;B4DQZ9	ZN582_HUMAN;.	I	387	ENSP00000301310:R387I	ENSP00000301310:R387I	R	-	2	0	ZNF582	61587438	0.043000	0.20138	0.850000	0.33497	0.528000	0.34623	2.846000	0.48262	2.480000	0.83734	0.655000	0.94253	AGA		0.428	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		A	56895626	C	A	56895626	3	1	281	1	0	0	0	0	1	0	0	0	18014	913	32	3	397	3	ZNF582	19	56895626	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08	17573499	56895626	2233357	51	15560											
RBM12	10137	broad.mit.edu	37	20	34242048	34242048	+	Silent	SNP	T	T	C			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr20:34242048T>C	ENST00000374114.3	-	3	1460	c.1197A>G	c.(1195-1197)ggA>ggG	p.G399G	CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000374104.3_Silent_p.G399G|CPNE1_ENST00000317619.3_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Silent_p.G399G|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	399						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G399G(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GATGAGTTTGTCCAGAAGGTC	0.478											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - coding silent(1)	ovary(1)	20											135	132	133					20																	34242048		2203	4300	6503	33705462	SO:0001819	synonymous_variant	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1197A>G	20.37:g.34242048T>C		846	33705462	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	CCDS13261.1																																																																																				0.478	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		C	34242048	T	C	34242048	2	2	281	1	0	0	0	0	0	0	0	1	13116	1654	58	4		4	RBM12	20	34242048	Silent	SNP	T	TCGA-24-2290-01A-01W-0799-08		34242048	28783472	52	15561											
ZBP1	81030	broad.mit.edu	37	20	56190001	56190001	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr20:56190001C>G	ENST00000371173.3	-	4	621	c.444G>C	c.(442-444)aaG>aaC	p.K148N	ZBP1_ENST00000340462.4_Missense_Mutation_p.K125N|ZBP1_ENST00000541799.1_Missense_Mutation_p.K148N|ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000395822.3_Missense_Mutation_p.K73N|ZBP1_ENST00000343535.4_Missense_Mutation_p.K148N	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	148					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.K148N(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGTGCCTGCTCTTCATCCTGT	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											246	195	212					20																	56190001		2203	4300	6503	55623407	SO:0001583	missense	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.444G>C	20.37:g.56190001C>G	ENSP00000360215:p.Lys148Asn		55623407	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661248	0.29515	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	3.39	-5.32	0.02722	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (1);	1.361350	0.04816	N	0.436027	T	0.41811	0.1175	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.51791	0.782;0.948;0.948;0.948	B;P;P;P	0.51918	0.308;0.589;0.684;0.589	T	0.48433	-0.9036	10	0.72032	D	0.01	-6.4876	6.4629	0.21966	0.0:0.2936:0.1393:0.5671	.	148;148;73;148	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	N	148;73;125;148;148;148	ENSP00000360215:K148N;ENSP00000379167:K73N;ENSP00000344954:K125N;ENSP00000340584:K148N;ENSP00000440552:K148N	ENSP00000344954:K125N	K	-	3	2	ZBP1	55623407	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.140000	0.03210	-1.273000	0.02424	-0.812000	0.03155	AAG		0.567	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		G	56190001	C	G	56190001	3	3	281	1	0	0	0	0	1	0	0	0	17521	912	32	3	942	3	ZBP1	20	56190001	Missense_Mutation	SNP	C	TCGA-24-2290-01A-01W-0799-08	21947953	56190001	6835519	53	15562											
ITGB2	3689	broad.mit.edu	37	21	46311819	46311819	+	Silent	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr21:46311819C>T	ENST00000397850.2	-	12	1769	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	ITGB2_ENST00000397854.3_Silent_p.V382V|ITGB2_ENST00000397857.1_Silent_p.V439V|ITGB2_ENST00000302347.5_Silent_p.V439V|ITGB2_ENST00000355153.4_Silent_p.V439V|ITGB2_ENST00000397852.1_Silent_p.V439V			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	439					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.V439V(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAAGAACCTGCACGGTCACTA	0.622																																																1	Substitution - coding silent(1)	ovary(1)	21											95	79	85					21																	46311819		2202	4300	6502	45136247	SO:0001819	synonymous_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1317G>A	21.37:g.46311819C>T			45136247	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	CCDS13716.1																																																																																				0.622	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		T	46311819	C	T	46311819	2	4	281	1	0	0	0	0	0	0	0	1	7894	697	25	2		2	ITGB2	21	46311819	Silent	SNP	C	TCGA-24-2290-01A-01W-0799-08		46311819	1818076	54	15563											
GGTLC2	91227	broad.mit.edu	37	22	22989329	22989329	+	Silent	SNP	A	A	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr22:22989329A>T	ENST00000480559.1	+	2	282	c.282A>T	c.(280-282)tcA>tcT	p.S94S	GGTLC2_ENST00000448514.1_Silent_p.S94S|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	94					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)	p.S94S(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGCCCCCCTCACCTGCCAATT	0.617																																																1	Substitution - coding silent(1)	ovary(1)	22											105	112	109					22																	22989329		2203	4298	6501	21319329	SO:0001819	synonymous_variant	91227			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"Gamma-glutamyltransferases"	18596	protein-coding gene	gene with protein product		612339	"gamma-glutamyltransferase-like 4"	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.282A>T	22.37:g.22989329A>T			21319329	A1A516|A2VCM9|Q5NV76|Q6ISH0	Silent	SNP	ENST00000480559.1	37	CCDS13802.2																																																																																				0.617	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		T	22989329	A	T	22989329	2	4	281	1	0	0	0	0	0	0	0	1	6366	146	6	5		5	GGTLC2	22	22989329	Silent	SNP	A	TCGA-24-2290-01A-01W-0799-08		22989329	28315237	55	15564											
CCDC157	550631	broad.mit.edu	37	22	30762086	30762086	+	Missense_Mutation	SNP	G	G	A	rs374803463		TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chr22:30762086G>A	ENST00000405659.1	+	3	806	c.97G>A	c.(97-99)Ggg>Agg	p.G33R	CCDC157_ENST00000399824.2_Missense_Mutation_p.G33R|CCDC157_ENST00000338306.3_Missense_Mutation_p.G33R			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	33								p.G33R(1)|p.G33W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CTCCCGCGCCGGGCCTGTGCG	0.662																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	22											62	70	68					22																	30762086		692	1591	2283	29092086	SO:0001583	missense	550631			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.97G>A	22.37:g.30762086G>A	ENSP00000385357:p.Gly33Arg		29092086	Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243768	0.79912	.	.	ENSG00000187860	ENST00000399824;ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T;T	0.56941	0.43;1.38;1.38;1.04;1.03	5.25	5.25	0.73442	.	.	.	.	.	T	0.70011	0.3175	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72074	-0.4400	9	0.72032	D	0.01	-35.3655	17.3819	0.87407	0.0:0.0:1.0:0.0	.	33	Q569K6	CC157_HUMAN	R	33	ENSP00000382720:G33R;ENSP00000385357:G33R;ENSP00000343087:G33R;ENSP00000387491:G33R;ENSP00000401837:G33R	ENSP00000343087:G33R	G	+	1	0	CCDC157	29092086	1.000000	0.71417	0.946000	0.38457	0.359000	0.29487	9.043000	0.93799	2.613000	0.88420	0.455000	0.32223	GGG		0.662	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		A	30762086	G	A	30762086	3	1	281	1	0	0	0	0	1	0	0	0	2789	1116	39	1	99	1	CCDC157	22	30762086	Missense_Mutation	SNP	G	TCGA-24-2290-01A-01W-0799-08	7772757	30762086	20542480	56	15565											
FAM47A	158724	broad.mit.edu	37	X	34148347	34148347	+	Silent	SNP	C	C	T			TCGA-24-2290-01A-01W-0799-08	TCGA-24-2290-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6c756ecb-dcb3-4a94-a86f-515bb0d7468e	12e9dd76-06ee-470d-9a40-0daad2bd8ca8	g.chrX:34148347C>T	ENST00000346193.3	-	1	2100	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	683								p.S683S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TATAAGAATTCGATGGCGTGT	0.443																																																1	Substitution - coding silent(1)	ovary(1)	X											82	80	81					X																	34148347		2202	4300	6502	34058268	SO:0001819	synonymous_variant	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2049G>A	X.37:g.34148347C>T			34058268	A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	CCDS43926.1																																																																																				0.443	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34148347	C	T	34148347	2	4	281	1	0	0	0	0	0	0	0	1	5569	871	31	1		1	FAM47A	23	34148347	Silent	SNP	C	TCGA-24-2290-01A-01W-0799-08		34148347	121122213	57	15566											
SRRM1	10250	broad.mit.edu	37	1	24989267	24989267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:24989267C>T	ENST00000323848.9	+	12	1915	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Nonsense_Mutation_p.R529*|SRRM1_ENST00000447431.2_Nonsense_Mutation_p.R532*|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	534	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R534*(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCATCACCACGAAAGCGCCA	0.473																																					Ovarian(68;897 1494 3282 17478)											1	Substitution - Nonsense(1)	ovary(1)	1											107	98	101					1																	24989267		2203	4300	6503	24861854	SO:0001587	stop_gained	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1600C>T	1.37:g.24989267C>T	ENSP00000326261:p.Arg534*		24861854	O60585|Q5VVN4	Nonsense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	40	8.324184	0.98759	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	.	.	.	5.41	2.34	0.29019	.	0.000000	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1198	14.4016	0.67050	0.3869:0.6131:0.0:0.0	.	.	.	.	X	534;532;529	.	ENSP00000326261:R534X	R	+	1	2	SRRM1	24861854	0.999000	0.42202	0.999000	0.59377	0.986000	0.74619	2.237000	0.43061	0.277000	0.22141	-0.182000	0.12963	CGA		0.473	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		T	24989267	C	T	24989267	4	4	282	1	0	0	0	0	0	1	0	0	15170	528	19	1	1646	1	SRRM1	1	24989267	Nonsense_Mutation	SNP	C	TCGA-24-2293-01A-01W-0799-08		24989267	224261354	1	15567											
THRAP3	9967	broad.mit.edu	37	1	36758206	36758206	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:36758206C>A	ENST00000354618.5	+	7	2150	c.1926C>A	c.(1924-1926)caC>caA	p.H642Q	THRAP3_ENST00000469141.2_Missense_Mutation_p.H642Q|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	642	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.H642Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGAGCATCACTTTGGGTCCT	0.478			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	ovary(1)	1											188	190	189					1																	36758206		2203	4300	6503	36530793	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1926C>A	1.37:g.36758206C>A	ENSP00000346634:p.His642Gln		36530793	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742243	0.69418	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16324	2.35;2.35	5.22	4.29	0.51040	.	0.132701	0.52532	D	0.000074	T	0.35624	0.0938	M	0.68952	2.095	0.58432	D	0.999992	D	0.71674	0.998	D	0.69479	0.964	T	0.04708	-1.0932	10	0.72032	D	0.01	-6.0117	10.2489	0.43358	0.0:0.8434:0.0:0.1566	.	642	Q9Y2W1	TR150_HUMAN	Q	642	ENSP00000346634:H642Q;ENSP00000433825:H642Q	ENSP00000346634:H642Q	H	+	3	2	THRAP3	36530793	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.700000	0.25601	2.608000	0.88229	0.555000	0.69702	CAC		0.478	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		A	36758206	C	A	36758206	3	1	282	1	0	0	0	0	1	0	0	0	15874	564	20	3	1944	3	THRAP3	1	36758206	Missense_Mutation	SNP	C	TCGA-24-2293-01A-01W-0799-08	11768939	36758206	212492415	2	15568											
MTF2	22823	broad.mit.edu	37	1	93580643	93580643	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:93580643A>C	ENST00000370298.4	+	5	770	c.481A>C	c.(481-483)Aag>Cag	p.K161Q	MTF2_ENST00000370303.4_Missense_Mutation_p.K161Q|MTF2_ENST00000545708.1_Missense_Mutation_p.K59Q|MTF2_ENST00000540243.1_Missense_Mutation_p.K59Q|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	161					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K161Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AACAACAACAAAGGTATATTT	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											88	84	85					1																	93580643		2203	4300	6503	93353231	SO:0001583	missense	22823			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.481A>C	1.37:g.93580643A>C	ENSP00000359321:p.Lys161Gln		93353231	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011006	0.75046	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.35	5.35	0.76521	Zinc finger, FYVE/PHD-type (1);	0.044063	0.85682	D	0.000000	D	0.92831	0.7720	M	0.78637	2.42	0.80722	D	1	D;P	0.76494	0.999;0.757	D;B	0.73380	0.98;0.418	D	0.92890	0.6330	10	0.46703	T	0.11	-7.0074	15.3456	0.74334	1.0:0.0:0.0:0.0	.	161;161	B1AKT6;Q9Y483	.;MTF2_HUMAN	Q	59;59;161;59;161	ENSP00000444962:K59Q;ENSP00000443295:K59Q;ENSP00000359321:K161Q;ENSP00000359326:K161Q	ENSP00000359321:K161Q	K	+	1	0	MTF2	93353231	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	5.691000	0.68249	2.023000	0.59567	0.533000	0.62120	AAG		0.353	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		C	93580643	A	C	93580643	3	2	282	1	0	0	0	0	1	0	0	0	9923	15	1	5	499	5	MTF2	1	93580643	Missense_Mutation	SNP	A	TCGA-24-2293-01A-01W-0799-08	56822437	93580643	155669978	3	15569											
COL11A1	1301	broad.mit.edu	37	1	103404627	103404627	+	Silent	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:103404627C>T	ENST00000370096.3	-	44	3714	c.3402G>A	c.(3400-3402)ccG>ccA	p.P1134P	COL11A1_ENST00000353414.4_Silent_p.P1095P|COL11A1_ENST00000358392.2_Silent_p.P1146P|COL11A1_ENST00000512756.1_Silent_p.P1018P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1134	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1146P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTTGTCCCGGCTCACCAA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	1											142	144	143					1																	103404627		2203	4300	6503	103177215	SO:0001819	synonymous_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3402G>A	1.37:g.103404627C>T			103177215	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																				0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103404627	C	T	103404627	2	4	282	1	0	0	0	0	0	0	0	1	3667	639	23	1		1	COL11A1	1	103404627	Silent	SNP	C	TCGA-24-2293-01A-01W-0799-08	9823984	103404627	145845994	4	15570											
CELSR2	1952	broad.mit.edu	37	1	109794172	109794172	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:109794172G>C	ENST00000271332.3	+	1	1532	c.1471G>C	c.(1471-1473)Gtg>Ctg	p.V491L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	491	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V491L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCTGGCTTGGTGACAGTACA	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)											1	Substitution - Missense(1)	ovary(1)	1											171	153	159					1																	109794172		2203	4300	6503	109595695	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1471G>C	1.37:g.109794172G>C	ENSP00000271332:p.Val491Leu		109595695	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	12.70	2.017886	0.35606	.	.	ENSG00000143126	ENST00000271332	T	0.64803	-0.12	4.82	4.82	0.62117	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70448	0.3225	M	0.65677	2.01	0.53005	D	0.999966	P	0.51147	0.942	D	0.64687	0.928	T	0.66019	-0.6027	9	0.28530	T	0.3	.	18.1629	0.89716	0.0:0.0:1.0:0.0	.	491	Q9HCU4	CELR2_HUMAN	L	491	ENSP00000271332:V491L	ENSP00000271332:V491L	V	+	1	0	CELSR2	109595695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.601000	0.98297	2.543000	0.85770	0.555000	0.69702	GTG		0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		C	109794172	G	C	109794172	3	2	282	1	0	0	0	0	1	0	0	0	3222	1261	44	3	1473	3	CELSR2	1	109794172	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08	6389545	109794172	139456449	5	15571											
OR11L1	391189	broad.mit.edu	37	1	248005089	248005089	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr1:248005089A>T	ENST00000355784.2	-	1	165	c.110T>A	c.(109-111)cTg>cAg	p.L37Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	37						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L37Q(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TATAATGGTCAGGCAGTAGAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											71	62	65					1																	248005089		2203	4300	6503	246071712	SO:0001583	missense	391189			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.110T>A	1.37:g.248005089A>T	ENSP00000348033:p.Leu37Gln		246071712		Missense_Mutation	SNP	ENST00000355784.2	37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	A	9.254	1.041600	0.19669	.	.	ENSG00000197591	ENST00000355784	T	0.00453	7.33	4.2	4.2	0.49525	.	0.000000	0.32578	U	0.005916	T	0.01287	0.0042	M	0.92507	3.315	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.26360	-1.0105	10	0.72032	D	0.01	.	6.7874	0.23682	0.8198:0.0:0.1802:0.0	.	37	Q8NGX0	O11L1_HUMAN	Q	37	ENSP00000348033:L37Q	ENSP00000348033:L37Q	L	-	2	0	OR11L1	246071712	0.013000	0.17824	0.073000	0.20177	0.048000	0.14542	2.693000	0.47027	1.889000	0.54706	0.443000	0.29094	CTG		0.493	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		T	248005089	A	T	248005089	3	4	282	1	0	0	0	0	1	0	0	0	10930	188	7	5	862	5	OR11L1	1	248005089	Missense_Mutation	SNP	A	TCGA-24-2293-01A-01W-0799-08	138210917	248005089	1245532	6	15572											
KCNH7	90134	broad.mit.edu	37	2	163279946	163279946	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:163279946T>C	ENST00000332142.5	-	9	2153	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	KCNH7_ENST00000328032.4_Missense_Mutation_p.E678G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	685					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E685G(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCGAATGAACTCTTTTACTCG	0.443																																					GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)	ovary(1)	2											241	224	229					2																	163279946		2203	4300	6503	162988192	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2054A>G	2.37:g.163279946T>C	ENSP00000331727:p.Glu685Gly		162988192	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997727	0.93227	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96830	-4.14;-4.14	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.96	D	0.99445	1.0939	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	678;685	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	G	685;678	ENSP00000331727:E685G;ENSP00000333781:E678G	ENSP00000333781:E678G	E	-	2	0	KCNH7	162988192	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	GAG		0.443	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		C	163279946	T	C	163279946	3	2	282	1	0	0	0	0	1	0	0	0	8037	1551	54	4	1634	4	KCNH7	2	163279946	Missense_Mutation	SNP	T	TCGA-24-2293-01A-01W-0799-08		163279946	79919427	7	15573											
GRB14	2888	broad.mit.edu	37	2	165476321	165476321	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:165476321T>A	ENST00000263915.3	-	2	738	c.200A>T	c.(199-201)aAg>aTg	p.K67M		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	67					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K67M(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGATCTTTCTTTTTTCTCCT	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											134	138	137					2																	165476321		2203	4300	6503	165184567	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.200A>T	2.37:g.165476321T>A	ENSP00000263915:p.Lys67Met		165184567	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904754	0.33628	.	.	ENSG00000115290	ENST00000263915;ENST00000446413;ENST00000424693	T;T;T	0.46819	1.87;1.45;0.86	5.31	2.87	0.33458	.	0.301451	0.28515	N	0.015075	T	0.31071	0.0785	N	0.22421	0.69	0.80722	D	1	B	0.13145	0.007	B	0.17979	0.02	T	0.07139	-1.0788	10	0.56958	D	0.05	-0.5728	7.1349	0.25523	0.1457:0.0:0.1527:0.7016	.	67	Q14449	GRB14_HUMAN	M	67;22;9	ENSP00000263915:K67M;ENSP00000416786:K22M;ENSP00000401702:K9M	ENSP00000263915:K67M	K	-	2	0	GRB14	165184567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.359000	0.44142	0.305000	0.22832	0.533000	0.62120	AAG		0.368	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			A	165476321	T	A	165476321	3	1	282	1	0	0	0	0	1	0	0	0	6757	1609	56	5	1474	5	GRB14	2	165476321	Missense_Mutation	SNP	T	TCGA-24-2293-01A-01W-0799-08	2196375	165476321	77723052	8	15574											
SCN1A	6323	broad.mit.edu	37	2	166892744	166892744	+	Silent	SNP	T	T	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:166892744T>A	ENST00000303395.4	-	16	3242	c.3243A>T	c.(3241-3243)ggA>ggT	p.G1081G	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.G1070G|SCN1A_ENST00000409050.1_Silent_p.G1053G|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Silent_p.G1081G			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1081					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.G1070G(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTTGTAGTTCCATTTACAT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	2											173	163	167					2																	166892744		2203	4300	6503	166600990	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3243A>T	2.37:g.166892744T>A			166600990	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.348	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		A	166892744	T	A	166892744	2	1	282	1	0	0	0	0	0	0	0	1	13917	1770	62	5		5	SCN1A	2	166892744	Silent	SNP	T	TCGA-24-2293-01A-01W-0799-08	1416423	166892744	76306629	9	15575											
TTN	7273	broad.mit.edu	37	2	179429213	179429213	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:179429213G>A	ENST00000591111.1	-	276	76947	c.76723C>T	c.(76723-76725)Cgc>Tgc	p.R25575C	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R27216C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18276C|TTN_ENST00000460472.2_Missense_Mutation_p.R18151C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24648C			Q8WZ42	TITIN_HUMAN	titin	25575	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R18151C(2)|p.R24646C(2)|p.R18343C(1)|p.R18276C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCCAGCGGCCATCAGGT	0.368																																																6	Substitution - Missense(6)	large_intestine(4)|ovary(2)	2											71	67	68					2																	179429213		1864	4107	5971	179137459	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76723C>T	2.37:g.179429213G>A	ENSP00000465570:p.Arg25575Cys		179137459	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.36	2.213698	0.39102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.16	5.28	0.74379	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74928	0.3781	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79546	-0.1759	9	0.87932	D	0	.	17.1823	0.86858	0.0:0.0:0.8731:0.1269	.	18151;18276;18343;25575	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	24648;18151;18343;18276;18149	ENSP00000343764:R24648C;ENSP00000434586:R18151C;ENSP00000340554:R18343C;ENSP00000352154:R18276C	ENSP00000340554:R18343C	R	-	1	0	TTN	179137459	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.807000	0.99171	1.597000	0.50072	0.650000	0.86243	CGC		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179429213	G	A	179429213	3	1	282	1	0	0	0	0	1	0	0	0	16735	1116	39	1	26481	1	TTN	2	179429213	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08	12536469	179429213	63770160	10	15576											
SP140	11262	broad.mit.edu	37	2	231149125	231149125	+	Splice_Site	SNP	T	T	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr2:231149125T>C	ENST00000392045.3	+	16	1677	c.1563T>C	c.(1561-1563)aaT>aaC	p.N521N	SP140_ENST00000417495.3_Splice_Site_p.N407N|SP140_ENST00000420434.3_Splice_Site_p.N494N|SP140_ENST00000486687.2_Splice_Site_p.N445N|SP140_ENST00000343805.6_Splice_Site_p.N461N|SP140_ENST00000350136.5_Splice_Site_p.N390N	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	521					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N521N(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCCAACAAAATGGTAAGCAGG	0.433																																																1	Substitution - coding silent(1)	ovary(1)	2											103	116	112					2																	231149125		1906	4117	6023	230857369	SO:0001630	splice_region_variant	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1564+1T>C	2.37:g.231149125T>C			230857369	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	CCDS42831.1																																																																																				0.433	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	Silent	C	231149125	T	C	231149125	5	2	282	1	0	0	0	0	0	0	1	0	14965	1478	51	4	1742	4	SP140	2	231149125	Splice_Site	SNP	T	TCGA-24-2293-01A-01W-0799-08	51719912	231149125	12050248	11	15577											
SPATA18	132671	broad.mit.edu	37	4	52938302	52938302	+	Silent	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr4:52938302G>A	ENST00000295213.4	+	6	1112	c.738G>A	c.(736-738)gaG>gaA	p.E246E	SPATA18_ENST00000419395.2_Silent_p.E214E|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	246					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.E246E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGTCTGCTGAGAAAAGTGCAC	0.453																																																1	Substitution - coding silent(1)	ovary(1)	4											79	75	76					4																	52938302		2203	4300	6503	52633059	SO:0001819	synonymous_variant	132671			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.738G>A	4.37:g.52938302G>A			52633059	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	CCDS3489.1																																																																																				0.453	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		A	52938302	G	A	52938302	2	1	282	1	0	0	0	0	0	0	0	1	15005	933	33	2		2	SPATA18	4	52938302	Silent	SNP	G	TCGA-24-2293-01A-01W-0799-08		52938302	138215974	12	15578											
PXDNL	137902	broad.mit.edu	37	8	52387592	52387592	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr8:52387592A>G	ENST00000356297.4	-	7	734	c.634T>C	c.(634-636)Tat>Cat	p.Y212H	PXDNL_ENST00000543296.1_Missense_Mutation_p.Y212H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	212	LRRCT.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Y212H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCCTGGGATATTCGCAGGTA	0.502																																																1	Substitution - Missense(1)	ovary(1)	8											56	57	56					8																	52387592		1918	4134	6052	52550145	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.634T>C	8.37:g.52387592A>G	ENSP00000348645:p.Tyr212His		52550145	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	8.037	0.763019	0.15914	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.52295	0.67;0.67	4.63	-1.85	0.07784	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.34279	0.0892	L	0.42632	1.34	0.09310	N	0.999996	B	0.16166	0.016	B	0.15870	0.014	T	0.28138	-1.0053	9	0.20519	T	0.43	.	8.8909	0.35432	0.6106:0.0:0.3894:0.0	.	212	A1KZ92	PXDNL_HUMAN	H	212	ENSP00000348645:Y212H;ENSP00000444865:Y212H	ENSP00000348645:Y212H	Y	-	1	0	PXDNL	52550145	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.312000	0.08113	-0.356000	0.08187	-0.263000	0.10527	TAT		0.502	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		G	52387592	A	G	52387592	3	3	282	1	0	0	0	0	1	0	0	0	12851	449	16	4	3825	4	PXDNL	8	52387592	Missense_Mutation	SNP	A	TCGA-24-2293-01A-01W-0799-08		52387592	93976430	13	15579											
KDM4C	23081	broad.mit.edu	37	9	7049128	7049128	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr9:7049128A>T	ENST00000381309.3	+	17	2917	c.2352A>T	c.(2350-2352)gaA>gaT	p.E784D	KDM4C_ENST00000543771.1_Missense_Mutation_p.E784D|KDM4C_ENST00000535193.1_Missense_Mutation_p.E806D|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000442236.2_Missense_Mutation_p.E529D|KDM4C_ENST00000428870.2_Missense_Mutation_p.E471D|KDM4C_ENST00000381306.3_Missense_Mutation_p.E784D	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	784					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.E784D(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CGGTCCCAGAAGTTCGATTCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	9											100	100	100					9																	7049128		2203	4300	6503	7039128	SO:0001583	missense	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2352A>T	9.37:g.7049128A>T	ENSP00000370710:p.Glu784Asp		7039128	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480797	0.84747	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.83483	2.645	0.48632	D	0.999688	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.996;0.999;0.999;0.998	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.2458	16.3948	0.83586	1.0:0.0:0.0:0.0	.	529;784;806;784;784	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	D	806;784;784;784;529;471;128	ENSP00000442382:E806D;ENSP00000445427:E784D;ENSP00000370710:E784D;ENSP00000370707:E784D;ENSP00000409353:E529D;ENSP00000405739:E471D;ENSP00000400127:E128D	ENSP00000370707:E784D	E	+	3	2	KDM4C	7039128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.718000	0.68455	2.326000	0.78906	0.533000	0.62120	GAA		0.423	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		T	7049128	A	T	7049128	3	4	282	1	0	0	0	0	1	0	0	0	8130	69	3	5	2484	5	KDM4C	9	7049128	Missense_Mutation	SNP	A	TCGA-24-2293-01A-01W-0799-08		7049128	134164303	14	15580											
FAM21A	387680	broad.mit.edu	37	10	51889204	51889204	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr10:51889204G>A	ENST00000282633.5	+	29	3158	c.3113G>A	c.(3112-3114)cGt>cAt	p.R1038H	FAM21A_ENST00000314664.7_Missense_Mutation_p.R976H|FAM21A_ENST00000399339.2_Missense_Mutation_p.R950H|FAM21A_ENST00000351071.6_Missense_Mutation_p.R1017H	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1038					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.R1038H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						AGAGGGAAGCGTAGACCGCAG	0.522																																																1	Substitution - Missense(1)	ovary(1)	10											43	34	37					10																	51889204		1522	3040	4562	51559210	SO:0001583	missense	55747			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.3113G>A	10.37:g.51889204G>A	ENSP00000282633:p.Arg1038His		51559210	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	g	19.03	3.747754	0.69533	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.80847	2.515	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.998	T	0.81669	-0.0828	9	0.87932	D	0	-8.7047	12.3184	0.54971	0.0:0.0:1.0:0.0	.	976;1017;950;1038;932	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	H	1017;976;932;1038;950	.	ENSP00000282633:R1038H	R	+	2	0	FAM21A	51559210	1.000000	0.71417	0.999000	0.59377	0.509000	0.34042	8.505000	0.90515	2.011000	0.59026	0.184000	0.17185	CGT		0.522	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		A	51889204	G	A	51889204	3	1	282	1	0	0	0	0	1	0	0	0	5540	1145	40	1	3227	1	FAM21A	10	51889204	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08		51889204	83645543	15	15581											
OR4C12	283093	broad.mit.edu	37	11	50003470	50003470	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:50003470T>G	ENST00000335238.4	-	1	601	c.568A>C	c.(568-570)Act>Cct	p.T190P		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T190P(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AGGGTATGAGTGTCTATGCAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											103	102	102					11																	50003470		2201	4296	6497	49960046	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.568A>C	11.37:g.50003470T>G	ENSP00000334418:p.Thr190Pro		49960046	B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.491060	0.44249	.	.	ENSG00000221954	ENST00000335238	T	0.00245	8.45	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	U	0.000593	T	0.00524	0.0017	M	0.83223	2.63	0.31050	N	0.715351	D	0.76494	0.999	D	0.80764	0.994	T	0.20306	-1.0279	10	0.87932	D	0	.	9.5014	0.39019	0.0:0.0:0.0:1.0	.	190	Q96R67	OR4CC_HUMAN	P	190	ENSP00000334418:T190P	ENSP00000334418:T190P	T	-	1	0	OR4C12	49960046	0.988000	0.35896	0.841000	0.33234	0.563000	0.35712	2.813000	0.48002	1.387000	0.46486	0.325000	0.21440	ACT		0.413	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		G	50003470	T	G	50003470	3	3	282	1	0	0	0	0	1	0	0	0	11046	1696	59	5	365	5	OR4C12	11	50003470	Missense_Mutation	SNP	T	TCGA-24-2293-01A-01W-0799-08		50003470	85003046	16	15582											
OR5M3	219482	broad.mit.edu	37	11	56237479	56237479	+	Silent	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:56237479G>A	ENST00000312240.2	-	1	535	c.495C>T	c.(493-495)taC>taT	p.Y165Y		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y165Y(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTCCACAGAAGTACAAGCCGT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	11											108	98	101					11																	56237479		2201	4295	6496	55994055	SO:0001819	synonymous_variant	219482			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.495C>T	11.37:g.56237479G>A			55994055	B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	CCDS31532.1																																																																																				0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		A	56237479	G	A	56237479	2	1	282	1	0	0	0	0	0	0	0	1	11175	1024	36	2		2	OR5M3	11	56237479	Silent	SNP	G	TCGA-24-2293-01A-01W-0799-08	6234009	56237479	78769037	17	15583											
CASP5	838	broad.mit.edu	37	11	104877810	104877810	+	Splice_Site	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:104877810G>A	ENST00000260315.3	-	3	432	c.433C>T	c.(433-435)Cct>Tct	p.P145S	CASP5_ENST00000393141.2_Splice_Site_p.P158S|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Splice_Site_p.P158S|CASP5_ENST00000444749.2_Splice_Site_p.P87S|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Splice_Site_p.H112Y			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	145	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.P129S(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCAACCTTACGTTTTACACTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	11											175	176	176					11																	104877810		2201	4299	6500	104383020	SO:0001630	splice_region_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.433+1C>T	11.37:g.104877810G>A			104383020	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	CCDS8328.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.302|3.302	-0.142763|-0.142763	0.06669|0.06669	.|.	.|.	ENSG00000137757|ENSG00000137757	ENST00000393139|ENST00000393141;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000456094	T|T;T;T;T;T	0.23348|0.09817	1.91|4.71;4.72;4.6;4.71;2.94	3.71|3.71	0.818|0.818	0.18778|0.18778	.|DEATH-like (1);Caspase Recruitment (1);	.|0.436210	.|0.23629	.|N	.|0.046151	T|T	0.02688|0.02688	0.0081|0.0081	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.003;0.005;0.006	.|B;B;B	.|0.09377	.|0.001;0.004;0.003	T|T	0.41360|0.41360	-0.9513|-0.9513	6|9	.|.	.|.	.|.	.|.	2.4859|2.4859	0.04598|0.04598	0.1901:0.5059:0.1966:0.1074|0.1901:0.5059:0.1966:0.1074	.|.	.|87;145;158	.|P51878-2;P51878;P51878-5	.|.;CASP5_HUMAN;.	Y|S	112|158;145;87;158;129	ENSP00000376847:H112Y|ENSP00000376849:P158S;ENSP00000260315:P145S;ENSP00000388365:P87S;ENSP00000436877:P158S;ENSP00000415241:P129S	.|.	H|P	-|-	1|1	0|0	CASP5|CASP5	104383020|104383020	0.773000|0.773000	0.28580|0.28580	0.247000|0.247000	0.24249|0.24249	0.000000|0.000000	0.00434|0.00434	0.075000|0.075000	0.14686|0.14686	0.196000|0.196000	0.20367|0.20367	-2.495000|-2.495000	0.00193|0.00193	CAT|CCT		0.393	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	Missense_Mutation	A	104877810	G	A	104877810	5	1	282	1	0	0	0	0	0	0	1	0	2674	1159	40	1	899	1	CASP5	11	104877810	Splice_Site	SNP	G	TCGA-24-2293-01A-01W-0799-08	48640331	104877810	30128706	18	15584											
DPAGT1	1798	broad.mit.edu	37	11	118971415	118971415	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:118971415A>G	ENST00000409993.2	-	5	1972	c.421T>C	c.(421-423)Ttc>Ctc	p.F141L	DPAGT1_ENST00000354202.4_Missense_Mutation_p.F141L|DPAGT1_ENST00000432443.2_Missense_Mutation_p.F34L|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	141					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.F141L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AAGTTGGTGAAATAGACCATG	0.552											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											75	60	65					11																	118971415		2200	4295	6495	118476625	SO:0001583	missense	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.421T>C	11.37:g.118971415A>G	ENSP00000386597:p.Phe141Leu	1492	118476625	O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311182	0.81358	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.91894	-2.93;-2.93;-2.93	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.28556	0.865	0.80722	D	1	B;B	0.15141	0.011;0.012	B;B	0.21360	0.034;0.034	D	0.83611	0.0134	10	0.41790	T	0.15	-25.9921	14.8174	0.70045	1.0:0.0:0.0:0.0	.	34;141	E7EW40;Q9H3H5	.;GPT_HUMAN	L	141;141;34	ENSP00000386597:F141L;ENSP00000346142:F141L;ENSP00000404036:F34L	ENSP00000346142:F141L	F	-	1	0	DPAGT1	118476625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.090000	0.63153	0.460000	0.39030	TTC		0.552	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		G	118971415	A	G	118971415	3	3	282	1	0	0	0	0	1	0	0	0	4710	14	1	4	833	4	DPAGT1	11	118971415	Missense_Mutation	SNP	A	TCGA-24-2293-01A-01W-0799-08	14093605	118971415	16035101	19	15585											
CBL	867	broad.mit.edu	37	11	119148471	119148471	+	Silent	SNP	T	T	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr11:119148471T>C	ENST00000264033.4	+	7	1388	c.1012T>C	c.(1012-1014)Ttg>Ctg	p.L338L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	338	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L338L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTACAGCTATTTGTTTCCTGA	0.403			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																														"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Substitution - coding silent(1)	ovary(1)	11											88	84	85					11																	119148471		2199	4295	6494	118653681	SO:0001819	synonymous_variant	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1012T>C	11.37:g.119148471T>C			118653681	A3KMP8	Silent	SNP	ENST00000264033.4	37	CCDS8418.1																																																																																				0.403	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		C	119148471	T	C	119148471	2	2	282	1	0	0	0	0	0	0	0	1	2700	1838	64	4		4	CBL	11	119148471	Silent	SNP	T	TCGA-24-2293-01A-01W-0799-08	177056	119148471	15858045	20	15586											
EPS8	2059	broad.mit.edu	37	12	15818705	15818705	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr12:15818705C>G	ENST00000281172.5	-	8	1157	c.721G>C	c.(721-723)Gcc>Ccc	p.A241P	EPS8_ENST00000543612.1_Missense_Mutation_p.A241P|EPS8_ENST00000543523.1_Missense_Mutation_p.A241P	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	241					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.A241P(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCTTGGTCGGCTGCCCATGCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	12											44	46	45					12																	15818705		2203	4300	6503	15709972	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.721G>C	12.37:g.15818705C>G	ENSP00000281172:p.Ala241Pro		15709972	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058574	0.36277	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223	T;T;T	0.06687	3.27;3.27;3.27	5.62	3.62	0.41486	.	0.404576	0.27181	N	0.020553	T	0.09818	0.0241	L	0.34521	1.04	0.80722	D	1	D	0.54047	0.964	P	0.50791	0.65	T	0.33137	-0.9880	10	0.19590	T	0.45	-10.8651	10.1683	0.42893	0.375:0.5025:0.1225:0.0	.	241	Q12929	EPS8_HUMAN	P	241	ENSP00000441867:A241P;ENSP00000281172:A241P;ENSP00000442388:A241P	ENSP00000281172:A241P	A	-	1	0	EPS8	15709972	0.928000	0.31464	1.000000	0.80357	0.987000	0.75469	1.069000	0.30641	1.303000	0.44873	0.591000	0.81541	GCC		0.522	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			G	15818705	C	G	15818705	3	3	282	1	0	0	0	0	1	0	0	0	5194	797	28	3	1803	3	EPS8	12	15818705	Missense_Mutation	SNP	C	TCGA-24-2293-01A-01W-0799-08		15818705	118033190	21	15587											
KIF21A	55605	broad.mit.edu	37	12	39734074	39734074	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr12:39734074G>A	ENST00000361418.5	-	16	2218	c.2203C>T	c.(2203-2205)Ctt>Ttt	p.L735F	KIF21A_ENST00000361961.3_Missense_Mutation_p.L722F|KIF21A_ENST00000541463.2_Missense_Mutation_p.L722F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L722F|KIF21A_ENST00000395670.3_Missense_Mutation_p.L735F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	735					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L722F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCTGCTTGAAGTCTCTGCAGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	12											122	106	111					12																	39734074		2203	4297	6500	38020341	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2203C>T	12.37:g.39734074G>A	ENSP00000354878:p.Leu735Phe		38020341	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286887	0.80803	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.22	4.33	0.51752	.	0.000000	0.47852	D	0.000214	T	0.44932	0.1317	M	0.72894	2.215	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.986;0.997;0.999	T	0.41342	-0.9514	10	0.52906	T	0.07	.	13.7255	0.62756	0.0741:0.0:0.9259:0.0	.	722;722;735;722;735	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	F	722;735;735;722;735;722	ENSP00000354851:L722F;ENSP00000379029:L735F;ENSP00000445606:L722F;ENSP00000354878:L735F;ENSP00000438075:L722F	ENSP00000344501:L735F	L	-	1	0	KIF21A	38020341	1.000000	0.71417	0.970000	0.41538	0.977000	0.68977	6.449000	0.73473	1.204000	0.43247	0.655000	0.94253	CTT		0.358	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		A	39734074	G	A	39734074	3	1	282	1	0	0	0	0	1	0	0	0	8288	1029	36	2	2913	2	KIF21A	12	39734074	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08	23915369	39734074	94117821	22	15588											
KIAA1024	23251	broad.mit.edu	37	15	79749909	79749909	+	Missense_Mutation	SNP	G	G	A	rs147416682	byFrequency	TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr15:79749909G>A	ENST00000305428.3	+	2	1495	c.1420G>A	c.(1420-1422)Gtg>Atg	p.V474M		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	474						integral component of membrane (GO:0016021)		p.V474M(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CACCAGTAGCGTGGGCACCCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	15						G	MET/VAL	1,4391	2.1+/-5.4	0,1,2195	69	63	65		1420	5.2	1	15	dbSNP_134	65	2,8584	2.2+/-6.3	0,2,4291	yes	missense	KIAA1024	NM_015206.2	21	0,3,6486	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	474/917	79749909	3,12975	2196	4293	6489	77536964	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1420G>A	15.37:g.79749909G>A	ENSP00000307461:p.Val474Met		77536964	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858006	0.51376	2.28E-4	2.33E-4	ENSG00000169330	ENST00000305428	T	0.36878	1.23	5.24	5.24	0.73138	.	0.202473	0.43260	D	0.000595	T	0.59865	0.2225	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.76575	0.988	T	0.58612	-0.7606	9	.	.	.	.	18.8071	0.92041	0.0:0.0:1.0:0.0	.	474	Q9UPX6	K1024_HUMAN	M	474	ENSP00000307461:V474M	.	V	+	1	0	KIAA1024	77536964	1.000000	0.71417	0.992000	0.48379	0.193000	0.23685	6.858000	0.75461	2.440000	0.82611	0.491000	0.48974	GTG		0.537	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		A	79749909	G	A	79749909	3	1	282	1	0	0	0	0	1	0	0	0	8205	1145	40	1	1422	1	KIAA1024	15	79749909	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08		79749909	22781483	23	15589											
DNAJA3	9093	broad.mit.edu	37	16	4493163	4493163	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr16:4493163C>T	ENST00000262375.6	+	6	1006	c.929C>T	c.(928-930)gCa>gTa	p.A310V	DNAJA3_ENST00000431375.2_Missense_Mutation_p.A157V|DNAJA3_ENST00000355296.4_Missense_Mutation_p.A310V	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	310					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)	p.A310V(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CCTGTGCCTGCAGGTGGGTGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											64	53	56					16																	4493163		2197	4300	6497	4433164	SO:0001583	missense	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.929C>T	16.37:g.4493163C>T	ENSP00000262375:p.Ala310Val		4433164	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469121	0.96274	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.68181	-0.31;-0.3;0.65	5.6	5.6	0.85130	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	H	0.95437	3.67	0.80722	D	1	B;D;D	0.89917	0.041;1.0;1.0	B;D;D	0.83275	0.038;0.996;0.983	D	0.90536	0.4499	10	0.66056	D	0.02	-17.5732	18.9718	0.92718	0.0:1.0:0.0:0.0	.	157;310;310	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	V	310;310;157	ENSP00000262375:A310V;ENSP00000347445:A310V;ENSP00000393970:A157V	ENSP00000262375:A310V	A	+	2	0	DNAJA3	4433164	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.761000	0.85260	2.795000	0.96236	0.643000	0.83706	GCA		0.622	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			T	4493163	C	T	4493163	3	4	282	1	0	0	0	0	1	0	0	0	4613	710	25	2	951	2	DNAJA3	16	4493163	Missense_Mutation	SNP	C	TCGA-24-2293-01A-01W-0799-08		4493163	85861590	24	15590											
PRR11	55771	broad.mit.edu	37	17	57278973	57278973	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr17:57278973G>A	ENST00000262293.4	+	10	1376	c.1064G>A	c.(1063-1065)aGc>aAc	p.S355N	CTD-2510F5.6_ENST00000577660.1_Intron|CTD-2510F5.4_ENST00000577678.1_RNA	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	355						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.S355N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCTACAAGCAGCTTTGATGAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	17											99	94	96					17																	57278973		2203	4300	6503	54633755	SO:0001583	missense	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.1064G>A	17.37:g.57278973G>A	ENSP00000262293:p.Ser355Asn		54633755	Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316336	0.40996	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.58	1.34	0.21922	.	0.309163	0.32161	N	0.006481	T	0.44393	0.1291	L	0.35723	1.085	0.36286	D	0.856077	B	0.13594	0.008	B	0.12156	0.007	T	0.41556	-0.9502	9	0.54805	T	0.06	-0.276	9.9481	0.41623	0.2788:0.0:0.7212:0.0	.	355	Q96HE9	PRR11_HUMAN	N	355	.	ENSP00000262293:S355N	S	+	2	0	PRR11	54633755	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.312000	0.43726	0.044000	0.15775	-0.258000	0.10820	AGC		0.408	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		A	57278973	G	A	57278973	3	1	282	1	0	0	0	0	1	0	0	0	12586	971	34	2	1098	2	PRR11	17	57278973	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08		57278973	23916237	25	15591											
BRIP1	83990	broad.mit.edu	37	17	59853910	59853910	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr17:59853910G>A	ENST00000259008.2	-	14	2216	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.T650I	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	650					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T650I(1)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGACCCAATGGTACCAACCCA	0.388			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	1	Substitution - Missense(1)	ovary(1)	17											112	111	111					17																	59853910		2203	4300	6503	57208692	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1949C>T	17.37:g.59853910G>A	ENSP00000259008:p.Thr650Ile		57208692	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689852	0.88735	.	.	ENSG00000136492	ENST00000259008	T	0.74737	-0.87	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	L	0.35593	1.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.78265	-0.2271	9	.	.	.	-9.7187	18.8092	0.92052	0.0:0.0:1.0:0.0	.	650;650	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	I	650	ENSP00000259008:T650I	.	T	-	2	0	BRIP1	57208692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	2.683000	0.91414	0.655000	0.94253	ACC		0.388	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		A	59853910	G	A	59853910	3	1	282	1	0	0	0	0	1	0	0	0	1514	1261	44	2	1828	2	BRIP1	17	59853910	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08	2574937	59853910	21341300	26	15592											
MUC16	94025	broad.mit.edu	37	19	9018494	9018494	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr19:9018494G>T	ENST00000397910.4	-	24	37883	c.37680C>A	c.(37678-37680)gaC>gaA	p.D12560E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12562	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCGATGCATGTCCTCCTCAT	0.537																																																0			19											234	200	211					19																	9018494		2009	4189	6198	8879494	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37680C>A	19.37:g.9018494G>T	ENSP00000381008:p.Asp12560Glu		8879494	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	5.444	0.267050	0.10294	.	.	ENSG00000181143	ENST00000397910	T	0.55588	0.51	2.01	-1.47	0.08772	.	.	.	.	.	T	0.55986	0.1955	M	0.84326	2.69	.	.	.	D	0.64830	0.994	P	0.48598	0.583	T	0.60682	-0.7215	8	0.87932	D	0	.	5.1154	0.14831	0.4775:0.0:0.5225:0.0	.	12560	B5ME49	.	E	12560	ENSP00000381008:D12560E	ENSP00000381008:D12560E	D	-	3	2	MUC16	8879494	0.012000	0.17670	0.003000	0.11579	0.150000	0.21749	-0.538000	0.06120	-0.304000	0.08843	0.195000	0.17529	GAC		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9018494	G	T	9018494	3	4	282	1	0	0	0	0	1	0	0	0	9973	1368	48	3	6087	3	MUC16	19	9018494	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08		9018494	50110489	27	15593											
ZNF91	7644	broad.mit.edu	37	19	23545420	23545420	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr19:23545420G>T	ENST00000300619.7	-	4	566	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	ZNF91_ENST00000397082.2_Missense_Mutation_p.Q89K|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	121					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q121K(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTTAACTGTAAATTCTCA	0.358																																																1	Substitution - Missense(1)	ovary(1)	19											66	69	68					19																	23545420		2122	4266	6388	23337260	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.361C>A	19.37:g.23545420G>T	ENSP00000300619:p.Gln121Lys		23337260	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.219526	0.00286	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05319	3.55;3.46	0.987	-1.05	0.10036	.	.	.	.	.	T	0.10078	0.0247	M	0.80982	2.52	0.09310	N	1	B;P	0.43352	0.232;0.804	B;P	0.46510	0.07;0.519	T	0.28776	-1.0033	9	0.15499	T	0.54	.	3.3973	0.07311	0.0:0.0:0.5482:0.4518	.	89;121	Q05481-2;Q05481	.;ZNF91_HUMAN	K	121;89	ENSP00000300619:Q121K;ENSP00000380272:Q89K	ENSP00000300619:Q121K	Q	-	1	0	ZNF91	23337260	0.001000	0.12720	0.007000	0.13788	0.597000	0.36814	-0.381000	0.07417	0.436000	0.26393	0.174000	0.16983	CAG		0.358	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		T	23545420	G	T	23545420	3	4	282	1	0	0	0	0	1	0	0	0	18200	1386	48	3	3218	3	ZNF91	19	23545420	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08	14526926	23545420	35583563	28	15594											
ZNF285	26974	broad.mit.edu	37	19	44890755	44890755	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr19:44890755C>T	ENST00000330997.4	-	4	1716	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.R551H|ZNF285_ENST00000591679.1_Missense_Mutation_p.R558H	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R551H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTATGAATTACGACTGAAGCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	19											129	110	117					19																	44890755		2203	4296	6499	49582595	SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1652G>A	19.37:g.44890755C>T	ENSP00000333595:p.Arg551His		49582595	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544817	0.45280	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05580	3.42	3.74	-4.14	0.03892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	N	0.16233	0.39	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.47724	-0.9095	9	0.15499	T	0.54	.	10.8854	0.46964	0.0:0.2982:0.0:0.7018	.	575;551	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	H	574;551	ENSP00000333595:R551H	ENSP00000333595:R551H	R	-	2	0	ZNF285	49582595	0.001000	0.12720	0.008000	0.14137	0.784000	0.44337	0.878000	0.28126	-0.568000	0.06038	0.454000	0.30748	CGT		0.458	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		T	44890755	C	T	44890755	3	4	282	1	0	0	0	0	1	0	0	0	17822	536	19	1	124	1	ZNF285	19	44890755	Missense_Mutation	SNP	C	TCGA-24-2293-01A-01W-0799-08	21345335	44890755	14238228	29	15595											
MYBPC2	4606	broad.mit.edu	37	19	50958433	50958433	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr19:50958433G>A	ENST00000357701.5	+	19	2134	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	695	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E695K(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGTCTTCACAGAGACCACCTA	0.547																																																1	Substitution - Missense(1)	ovary(1)	19											87	90	89					19																	50958433		2017	4186	6203	55650245	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2083G>A	19.37:g.50958433G>A	ENSP00000350332:p.Glu695Lys		55650245	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.760138	0.49468	.	.	ENSG00000086967	ENST00000357701	T	0.58797	0.31	4.07	4.07	0.47477	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.922450	0.04579	U	0.394648	T	0.52256	0.1723	L	0.33137	0.985	0.23449	N	0.997659	B	0.09022	0.002	B	0.15052	0.012	T	0.34725	-0.9817	10	0.23302	T	0.38	.	15.3857	0.74699	0.0:0.0:1.0:0.0	.	695	Q14324	MYPC2_HUMAN	K	695	ENSP00000350332:E695K	ENSP00000350332:E695K	E	+	1	0	MYBPC2	55650245	1.000000	0.71417	0.936000	0.37596	0.653000	0.38743	4.309000	0.59135	1.996000	0.58369	0.461000	0.40582	GAG		0.547	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		A	50958433	G	A	50958433	3	1	282	1	0	0	0	0	1	0	0	0	10012	943	33	2	2157	2	MYBPC2	19	50958433	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08	6067678	50958433	8170550	30	15596											
CSRP2BP	57325	broad.mit.edu	37	20	18165251	18165251	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr20:18165251G>C	ENST00000435364.3	+	9	2331	c.1990G>C	c.(1990-1992)Gac>Cac	p.D664H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D536H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.D663H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	664	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.D664H(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTAGGCATTGACCTGTCTGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	20											196	173	181					20																	18165251		2203	4300	6503	18113251	SO:0001583	missense	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1990G>C	20.37:g.18165251G>C	ENSP00000392318:p.Asp664His		18113251	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864412	0.91511	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.69	5.69	0.88448	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.75880	-0.3161	10	0.87932	D	0	-13.8356	19.8165	0.96571	0.0:0.0:1.0:0.0	.	536;664	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	664;663;664;536	ENSP00000278816:D664H;ENSP00000366909:D663H;ENSP00000392318:D664H;ENSP00000425909:D536H	ENSP00000278816:D664H	D	+	1	0	CSRP2BP	18113251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	2.683000	0.91414	0.655000	0.94253	GAC		0.408	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		C	18165251	G	C	18165251	3	2	282	1	0	0	0	0	1	0	0	0	3968	1290	45	3	2024	3	CSRP2BP	20	18165251	Missense_Mutation	SNP	G	TCGA-24-2293-01A-01W-0799-08		18165251	44860269	31	15597											
BCAS4	55653	broad.mit.edu	37	20	49493134	49493134	+	3'UTR	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr20:49493134C>T	ENST00000358791.5	+	0	798				BCAS4_ENST00000609336.1_3'UTR|BCAS4_ENST00000371608.2_Missense_Mutation_p.R201W|BCAS4_ENST00000262591.5_Missense_Mutation_p.R156W	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4							cytoplasm (GO:0005737)		p.R201W(1)		large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CACCTGCCCTCGGCCTTTGTG	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											63	65	64					20																	49493134		2203	4300	6503	48926541	SO:0001624	3_prime_UTR_variant	55653			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.*62C>T	20.37:g.49493134C>T			48926541	Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	ENST00000358791.5	37	CCDS33487.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939856	0.34189	.	.	ENSG00000124243	ENST00000262591;ENST00000371608	T;T	0.56103	0.48;0.56	3.19	-5.05	0.02955	.	.	.	.	.	T	0.29256	0.0728	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.20940	-1.0260	9	0.72032	D	0.01	.	1.1729	0.01829	0.4422:0.2493:0.1316:0.1768	.	201	Q8TDM0-3	.	W	156;201	ENSP00000262591:R156W;ENSP00000360669:R201W	ENSP00000262591:R156W	R	+	1	2	BCAS4	48926541	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.520000	0.02241	-1.140000	0.02877	0.491000	0.48974	CGG		0.547	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1	NM_017843		T	49493134	C	T	49493134	1	4	282	0	1	0	0	0	0	0	0	0	1353	875	31	1		1	BCAS4	20	49493134	3'UTR	SNP	C	TCGA-24-2293-01A-01W-0799-08	31327883	49493134	13532386	32	15598											
C20orf177	63939	broad.mit.edu	37	20	58519845	58519845	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr20:58519845A>T	ENST00000358293.3	+	5	1262	c.847A>T	c.(847-849)Agg>Tgg	p.R283W	FAM217B_ENST00000360816.3_Missense_Mutation_p.R283W|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	283								p.R283W(1)									TTGTTCTCAGAGGCAAACCCT	0.453																																																1	Substitution - Missense(1)	ovary(1)	20											63	64	63					20																	58519845		2203	4300	6503	57953240	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.847A>T	20.37:g.58519845A>T	ENSP00000351040:p.Arg283Trp		57953240	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296389	0.40594	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.27402	1.67;1.67	5.44	2.0	0.26442	.	0.517494	0.17639	N	0.167085	T	0.23886	0.0578	N	0.14661	0.345	0.21020	N	0.999802	D	0.55800	0.973	P	0.52424	0.698	T	0.06356	-1.0831	10	0.87932	D	0	-10.4411	5.5494	0.17081	0.648:0.1353:0.2167:0.0	.	283	Q9NTX9	CT177_HUMAN	W	283	ENSP00000351040:R283W;ENSP00000354056:R283W	ENSP00000351040:R283W	R	+	1	2	C20orf177	57953240	0.985000	0.35326	0.194000	0.23346	0.391000	0.30476	1.215000	0.32431	0.368000	0.24481	0.533000	0.62120	AGG		0.453	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		T	58519845	A	T	58519845	3	4	282	1	0	0	0	0	1	0	0	0	2096	295	11	5	849	5	C20orf177	20	58519845	Missense_Mutation	SNP	A	TCGA-24-2293-01A-01W-0799-08	9026711	58519845	4505675	33	15599											
USP25	29761	broad.mit.edu	37	21	17250186	17250186	+	Silent	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr21:17250186C>T	ENST00000285679.6	+	23	3240	c.2871C>T	c.(2869-2871)atC>atT	p.I957I	USP25_ENST00000285681.2_Silent_p.I989I|USP25_ENST00000351097.5_Silent_p.I352I|USP25_ENST00000400183.2_Silent_p.I1027I	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	957					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.I957I(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GTTTGATTATCATGAATGAGT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	21											118	119	118					21																	17250186		2203	4300	6503	16172057	SO:0001819	synonymous_variant	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2871C>T	21.37:g.17250186C>T			16172057	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1																																																																																				0.348	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			T	17250186	C	T	17250186	2	4	282	1	0	0	0	0	0	0	0	1	17056	816	29	2		2	USP25	21	17250186	Silent	SNP	C	TCGA-24-2293-01A-01W-0799-08		17250186	30879709	34	15600											
NF2	4771	broad.mit.edu	37	22	30054240	30054240	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chr22:30054240A>G	ENST00000338641.4	+	7	1103	c.662A>G	c.(661-663)tAc>tGc	p.Y221C	NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.Y221C|NF2_ENST00000334961.7_Missense_Mutation_p.Y138C|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Missense_Mutation_p.Y180C|NF2_ENST00000361676.4_Missense_Mutation_p.Y179C|NF2_ENST00000403435.1_Missense_Mutation_p.Y221C|NF2_ENST00000353887.4_Missense_Mutation_p.Y138C|NF2_ENST00000397789.3_Missense_Mutation_p.Y221C|NF2_ENST00000403999.3_Missense_Mutation_p.Y221C	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	221	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.N220fs*29(1)|p.E215fs*4(1)|p.Y221C(1)|p.L208fs*26(1)|p.Y207fs*27(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGTGTGAACTACTTTGCAATC	0.473			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	8	Deletion - Frameshift(4)|Unknown(3)|Substitution - Missense(1)	soft_tissue(3)|large_intestine(1)|meninges(1)|central_nervous_system(1)|stomach(1)|ovary(1)	22											198	153	168					22																	30054240		2203	4300	6503	28384240	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.662A>G	22.37:g.30054240A>G	ENSP00000344666:p.Tyr221Cys		28384240	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283539	0.59867	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.75	5.75	0.90469	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.058272	0.64402	D	0.000001	D	0.92067	0.7486	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.999;0.997;0.993;0.995;0.995	D	0.93862	0.7154	9	.	.	.	.	16.0537	0.80779	1.0:0.0:0.0:0.0	.	180;221;221;179;138;221	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	C	221;221;180;221;221;138;138;221;179;221	ENSP00000344666:Y221C;ENSP00000384029:Y221C;ENSP00000354897:Y180C;ENSP00000384797:Y221C;ENSP00000335652:Y138C;ENSP00000340626:Y138C;ENSP00000380891:Y221C;ENSP00000355183:Y179C;ENSP00000354529:Y221C	.	Y	+	2	0	NF2	28384240	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	9.248000	0.95456	2.181000	0.69327	0.460000	0.39030	TAC		0.473	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		G	30054240	A	G	30054240	3	3	282	1	0	0	0	0	1	0	0	0	10357	391	14	4	688	4	NF2	22	30054240	Missense_Mutation	SNP	A	TCGA-24-2293-01A-01W-0799-08		30054240	21250326	35	15601											
BRWD3	254065	broad.mit.edu	37	X	79945493	79945493	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chrX:79945493A>C	ENST00000373275.4	-	32	3917	c.3701T>G	c.(3700-3702)gTa>gGa	p.V1234G	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1234					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.V1234G(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GACATCAGTTACAATTTTAGC	0.323																																																1	Substitution - Missense(1)	ovary(1)	X											86	73	78					X																	79945493		2203	4300	6503	79832149	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3701T>G	X.37:g.79945493A>C	ENSP00000362372:p.Val1234Gly		79832149	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017879	0.75275	.	.	ENSG00000165288	ENST00000373275	T	0.19938	2.11	4.44	4.44	0.53790	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.49615	-0.8921	9	.	.	.	-11.3827	13.1253	0.59351	1.0:0.0:0.0:0.0	.	1234	Q6RI45	BRWD3_HUMAN	G	1234	ENSP00000362372:V1234G	.	V	-	2	0	BRWD3	79832149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.705000	0.91357	1.738000	0.51689	0.481000	0.45027	GTA		0.323	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		C	79945493	A	C	79945493	3	2	282	1	0	0	0	0	1	0	0	0	1526	391	14	5	1747	5	BRWD3	23	79945493	Missense_Mutation	SNP	A	TCGA-24-2293-01A-01W-0799-08		79945493	75325067	36	15602											
AFF2	2334	broad.mit.edu	37	X	148037364	148037364	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2293-01A-01W-0799-08	TCGA-24-2293-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d6a6460a-61b1-4067-ab9d-68878b3686c6	f46821a7-dbb5-45f8-a2a5-297d33c4bb78	g.chrX:148037364C>T	ENST00000370460.2	+	11	2268	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	AFF2_ENST00000286437.5_Missense_Mutation_p.R238C|AFF2_ENST00000370457.5_Missense_Mutation_p.R564C|AFF2_ENST00000342251.3_Missense_Mutation_p.R564C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	597					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R597C(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGAAAGCCCGTCCACGGCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	X											98	102	100					X																	148037364		2203	4300	6503	147845064	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1789C>T	X.37:g.148037364C>T	ENSP00000359489:p.Arg597Cys		147845064	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745398	0.30955	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.5	4.63	0.57726	.	0.064020	0.64402	D	0.000009	T	0.75744	0.3891	M	0.77313	2.365	0.40671	D	0.982211	D;D;D;D;D;D	0.59767	0.986;0.983;0.983;0.983;0.983;0.986	P;P;P;P;P;P	0.54401	0.664;0.534;0.534;0.534;0.636;0.751	T	0.78440	-0.2203	10	0.54805	T	0.06	.	12.0857	0.53695	0.4932:0.5068:0.0:0.0	.	238;562;564;558;587;597	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	597;564;564;238	ENSP00000359489:R597C;ENSP00000359486:R564C;ENSP00000345459:R564C;ENSP00000286437:R238C	ENSP00000286437:R238C	R	+	1	0	AFF2	147845064	1.000000	0.71417	0.802000	0.32245	0.001000	0.01503	4.345000	0.59360	1.071000	0.40834	-0.290000	0.09829	CGT		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	148037364	C	T	148037364	3	4	282	1	0	0	0	0	1	0	0	0	357	652	23	1	1886	1	AFF2	23	148037364	Missense_Mutation	SNP	C	TCGA-24-2293-01A-01W-0799-08	68091871	148037364	7233196	37	15603											
HTR6	3362	broad.mit.edu	37	1	20005622	20005622	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr1:20005622C>T	ENST00000289753.1	+	3	1551	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	362					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)	p.P362S(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CGGCCCCCGGCCCGGCCTTAG	0.731																																					Esophageal Squamous(168;1879 2619 6848 21062)											1	Substitution - Missense(1)	ovary(1)	1											13	16	15					1																	20005622		2193	4287	6480	19878209	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1084C>T	1.37:g.20005622C>T	ENSP00000289753:p.Pro362Ser		19878209	Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	5.352	0.250250	0.10130	.	.	ENSG00000158748	ENST00000289753	T	0.54279	0.58	5.39	4.42	0.53409	.	0.097455	0.39083	N	0.001467	T	0.32346	0.0826	N	0.14661	0.345	0.09310	N	0.999996	P	0.35077	0.483	B	0.27887	0.084	T	0.15464	-1.0436	9	.	.	.	.	15.5997	0.76613	0.0:0.8079:0.192:0.0	.	362	P50406	5HT6R_HUMAN	S	362	ENSP00000289753:P362S	.	P	+	1	0	HTR6	19878209	0.852000	0.29690	0.974000	0.42286	0.100000	0.18952	3.783000	0.55409	2.698000	0.92095	0.561000	0.74099	CCC		0.731	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		T	20005622	C	T	20005622	3	4	283	1	0	0	0	0	1	0	0	0	7451	739	26	2	1094	2	HTR6	1	20005622	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08		20005622	229244999	1	15604											
VAV3	10451	broad.mit.edu	37	1	108507379	108507379	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr1:108507379C>G	ENST00000370056.4	-	1	387	c.113G>C	c.(112-114)cGc>cCc	p.R38P	VAV3_ENST00000527011.1_Missense_Mutation_p.R38P|VAV3-AS1_ENST00000438318.1_RNA|VAV3_ENST00000371846.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	38	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.R38P(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GACTCCATCGCGGAGGGTCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											65	57	60					1																	108507379		2203	4300	6503	108308902	SO:0001583	missense	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.113G>C	1.37:g.108507379C>G	ENSP00000359073:p.Arg38Pro		108308902	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.533533|4.533533	0.85812|0.85812	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000490388|ENST00000370056;ENST00000527011	.|T;T	.|0.61980	.|0.06;0.06	4.92|4.92	4.01|4.01	0.46588|0.46588	.|Calponin homology domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80292|0.80292	0.4596|0.4596	H|H	0.95402|0.95402	3.665|3.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.991;0.999	D|D	0.85452|0.85452	0.1161|0.1161	5|10	.|0.87932	.|D	.|0	.|.	11.7714|11.7714	0.51960|0.51960	0.0:0.9132:0.0:0.0868|0.0:0.9132:0.0:0.0868	.|.	.|38;38;38	.|B7ZLR1;E9PQ97;Q9UKW4	.|.;.;VAV3_HUMAN	P|P	33|38	.|ENSP00000359073:R38P;ENSP00000432540:R38P	.|ENSP00000359073:R38P	A|R	-|-	1|2	0|0	VAV3|VAV3	108308902|108308902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.321000|7.321000	0.79088|0.79088	1.097000|1.097000	0.41459|0.41459	0.306000|0.306000	0.20318|0.20318	GCG|CGC		0.622	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		G	108507379	C	G	108507379	3	3	283	1	0	0	0	0	1	0	0	0	17133	768	27	3	2563	3	VAV3	1	108507379	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	88501757	108507379	140743242	2	15605											
SHE	126669	broad.mit.edu	37	1	154471696	154471696	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr1:154471696A>G	ENST00000304760.2	-	2	696	c.610T>C	c.(610-612)Tat>Cat	p.Y204H	TDRD10_ENST00000368482.4_5'Flank	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	204								p.Y204H(1)		breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGTCAGCATAGTCTTCTAAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											141	116	125					1																	154471696		2203	4300	6503	152738320	SO:0001583	missense	126669			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.610T>C	1.37:g.154471696A>G	ENSP00000307369:p.Tyr204His		152738320	Q8TEQ5	Missense_Mutation	SNP	ENST00000304760.2	37	CCDS30877.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521342	0.85600	.	.	ENSG00000169291	ENST00000304760	T	0.30981	1.51	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.82193	2.58	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.57075	-0.7873	10	0.59425	D	0.04	-29.6243	13.7207	0.62725	1.0:0.0:0.0:0.0	.	204	Q5VZ18	SHE_HUMAN	H	204	ENSP00000307369:Y204H	ENSP00000307369:Y204H	Y	-	1	0	SHE	152738320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.530000	0.90606	2.099000	0.63709	0.533000	0.62120	TAT		0.443	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846		G	154471696	A	G	154471696	3	3	283	1	0	0	0	0	1	0	0	0	14279	420	15	4	897	4	SHE	1	154471696	Missense_Mutation	SNP	A	TCGA-24-2298-01A-01W-0799-08	45964317	154471696	94778925	3	15606											
FLAD1	80308	broad.mit.edu	37	1	154960906	154960906	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr1:154960906C>A	ENST00000292180.3	+	2	1020	c.698C>A	c.(697-699)aCa>aAa	p.T233K	FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368431.3_Missense_Mutation_p.T134K|FLAD1_ENST00000368433.1_Missense_Mutation_p.T233K|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000368432.1_Missense_Mutation_p.T136K|FLAD1_ENST00000315144.10_Missense_Mutation_p.T136K|FLAD1_ENST00000405236.2_Missense_Mutation_p.T134K|FLAD1_ENST00000295530.2_5'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	233					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.T233K(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CATTATGGCACAGATCCTTGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											67	66	67					1																	154960906		2203	4300	6503	153227530	SO:0001583	missense	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.698C>A	1.37:g.154960906C>A	ENSP00000292180:p.Thr233Lys		153227530	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411583	0.25465	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	.	.	.	5.81	3.85	0.44370	Molybdopterin binding (4);	0.208574	0.48767	D	0.000164	T	0.27419	0.0673	L	0.41027	1.25	0.45837	D	0.998709	P;P	0.35944	0.529;0.488	B;B	0.39068	0.289;0.157	T	0.09335	-1.0679	9	0.32370	T	0.25	-6.4547	8.1602	0.31194	0.0:0.7234:0.1322:0.1443	.	233;134	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	K	233;136;136;134;233;134	.	ENSP00000292180:T233K	T	+	2	0	FLAD1	153227530	0.002000	0.14202	0.999000	0.59377	0.820000	0.46376	0.468000	0.22051	1.477000	0.48234	0.462000	0.41574	ACA		0.587	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		A	154960906	C	A	154960906	3	1	283	1	0	0	0	0	1	0	0	0	5920	478	17	3	779	3	FLAD1	1	154960906	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	489210	154960906	94289715	4	15607											
CD55	1604	broad.mit.edu	37	1	207495738	207495738	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr1:207495738C>A	ENST00000367064.3	+	2	370	c.112C>A	c.(112-114)Ctt>Att	p.L38I	CD55_ENST00000367067.4_Missense_Mutation_p.L38I|CD55_ENST00000367063.2_Missense_Mutation_p.L38I|CD55_ENST00000367062.4_Missense_Mutation_p.L38I|CD55_ENST00000391921.4_Missense_Mutation_p.L38I|CD55_ENST00000367065.5_Missense_Mutation_p.L38I|CD55_ENST00000391920.4_Missense_Mutation_p.L38I|CD55_ENST00000314754.8_Missense_Mutation_p.L38I	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	38	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)	p.L38I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGACTGTGGCCTTCCCCCAGA	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											101	104	103					1																	207495738		2203	4300	6503	205562361	SO:0001583	missense	1604			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.112C>A	1.37:g.207495738C>A	ENSP00000356031:p.Leu38Ile		205562361	B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	CCDS31006.1	.	.	.	.	.	.	.	.	.	.	C	8.835	0.940771	0.18281	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000367067;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.44	-1.88	0.07713	Complement control module (2);Sushi/SCR/CCP (3);	1.626250	0.03402	N	0.203510	T	0.58538	0.2129	N	0.25890	0.77	0.09310	N	1	D;P;B;P;B	0.69078	0.997;0.784;0.003;0.56;0.002	P;B;B;B;B	0.62740	0.906;0.413;0.029;0.413;0.048	T	0.51268	-0.8727	10	0.25106	T	0.35	.	0.6997	0.00905	0.2929:0.2616:0.2608:0.1847	.	38;38;38;38;38	B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;DAF_HUMAN;.	I	38	ENSP00000356031:L38I;ENSP00000356030:L38I;ENSP00000375788:L38I;ENSP00000356034:L38I;ENSP00000316333:L38I;ENSP00000356032:L38I;ENSP00000375787:L38I;ENSP00000356029:L38I	ENSP00000316333:L38I	L	+	1	0	CD55	205562361	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.760000	0.04756	-0.026000	0.13895	-0.965000	0.02619	CTT		0.463	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		A	207495738	C	A	207495738	3	1	283	1	0	0	0	0	1	0	0	0	3024	681	24	3	118	3	CD55	1	207495738	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	52534832	207495738	41754883	5	15608											
SCN9A	6335	broad.mit.edu	37	2	167094661	167094661	+	Silent	SNP	A	A	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr2:167094661A>G	ENST00000409435.1	-	19	3743	c.3744T>C	c.(3742-3744)taT>taC	p.Y1248Y	SCN9A_ENST00000303354.6_Silent_p.Y1249Y|SCN9A_ENST00000409672.1_Silent_p.Y1237Y|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.Y1249Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1248					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.Y1237Y(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTATAACCATATGCTATCC	0.328																																																1	Substitution - coding silent(1)	ovary(1)	2											52	54	53					2																	167094661		2180	4293	6473	166802907	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3744T>C	2.37:g.167094661A>G			166802907	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																				0.328	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		G	167094661	A	G	167094661	2	3	283	1	0	0	0	0	0	0	0	1	13928	224	8	4		4	SCN9A	2	167094661	Silent	SNP	A	TCGA-24-2298-01A-01W-0799-08		167094661	76104712	6	15609											
PMS1	5378	broad.mit.edu	37	2	190728639	190728639	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr2:190728639C>G	ENST00000441310.2	+	10	2260	c.2027C>G	c.(2026-2028)cCa>cGa	p.P676R	PMS1_ENST00000418224.3_Missense_Mutation_p.P500R|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_Missense_Mutation_p.P500R|PMS1_ENST00000409823.3_Missense_Mutation_p.P637R|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	676					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.P676L(1)|p.P676R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCTAATCAACCAAAACTTGAT	0.333			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	2	Substitution - Missense(2)	ovary(1)|lung(1)	2											82	88	86					2																	190728639		2203	4300	6503	190436884	SO:0001583	missense	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2027C>G	2.37:g.190728639C>G	ENSP00000406490:p.Pro676Arg		190436884	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101377	0.56183	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.86865	1.9;1.9;1.9;1.9;-2.18;1.97	5.45	5.45	0.79879	.	0.156057	0.64402	D	0.000020	D	0.87924	0.6300	M	0.65975	2.015	0.37679	D	0.923411	D;P;D;D	0.62365	0.991;0.932;0.981;0.991	P;P;P;P	0.49922	0.626;0.469;0.598;0.626	D	0.86387	0.1733	10	0.21014	T	0.42	-14.5228	13.6008	0.62018	0.247:0.753:0.0:0.0	.	676;637;637;676	Q4VAL4;Q5FBZ9;Q5FBZ3;P54277	.;.;.;PMS1_HUMAN	R	500;676;500;637;500;615;64	ENSP00000406490:P676R;ENSP00000404492:P500R;ENSP00000387125:P637R;ENSP00000398378:P500R;ENSP00000389938:P615R;ENSP00000396232:P64R	ENSP00000376149:P500R	P	+	2	0	PMS1	190436884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.343000	0.59348	2.852000	0.98041	0.644000	0.83932	CCA		0.333	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			G	190728639	C	G	190728639	3	3	283	1	0	0	0	0	1	0	0	0	12142	594	21	3	2061	3	PMS1	2	190728639	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	23633978	190728639	52470734	7	15610											
INO80D	54891	broad.mit.edu	37	2	206869178	206869178	+	Missense_Mutation	SNP	T	T	C			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr2:206869178T>C	ENST00000403263.1	-	11	3402	c.2998A>G	c.(2998-3000)Ata>Gta	p.I1000V		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I895V(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGAGGGGCTATAGAGCTGTGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											44	46	45					2																	206869178		2020	4193	6213	206577423	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2998A>G	2.37:g.206869178T>C	ENSP00000384198:p.Ile1000Val		206577423	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424986	0.43020	.	.	ENSG00000114933	ENST00000403263	T	0.32753	1.44	5.51	5.51	0.81932	.	.	.	.	.	T	0.20740	0.0499	N	0.14661	0.345	0.43122	D	0.994845	B	0.32245	0.361	B	0.30105	0.111	T	0.06935	-1.0799	9	0.45353	T	0.12	.	15.628	0.76878	0.0:0.0:0.0:1.0	.	1000	Q53TQ3-2	.	V	1000	ENSP00000384198:I1000V	ENSP00000384198:I1000V	I	-	1	0	INO80D	206577423	1.000000	0.71417	0.895000	0.35142	0.914000	0.54420	5.779000	0.68948	2.081000	0.62600	0.533000	0.62120	ATA		0.547	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		C	206869178	T	C	206869178	3	2	283	1	0	0	0	0	1	0	0	0	7749	1406	49	4	89	4	INO80D	2	206869178	Missense_Mutation	SNP	T	TCGA-24-2298-01A-01W-0799-08	16140539	206869178	36330195	8	15611											
INO80D	54891	broad.mit.edu	37	2	206927647	206927647	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr2:206927647C>T	ENST00000403263.1	-	3	498	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	32					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G32S(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAGGCGTAGCCGTTGAGTCGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	2											84	81	82					2																	206927647		2093	4232	6325	206635892	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.94G>A	2.37:g.206927647C>T	ENSP00000384198:p.Gly32Ser		206635892	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712200	0.96830	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000414320	T	0.42513	0.97	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000004	T	0.63355	0.2504	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62525	-0.6836	10	0.72032	D	0.01	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	32	Q53TQ3-2	.	S	32	ENSP00000384198:G32S	ENSP00000233270:G32S	G	-	1	0	INO80D	206635892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	GGC		0.493	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		T	206927647	C	T	206927647	3	4	283	1	0	0	0	0	1	0	0	0	7749	652	23	1	3025	1	INO80D	2	206927647	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	58469	206927647	36271726	9	15612											
TRIP12	9320	broad.mit.edu	37	2	230683210	230683210	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr2:230683210A>T	ENST00000283943.5	-	8	1503	c.1325T>A	c.(1324-1326)cTa>cAa	p.L442Q	TRIP12_ENST00000389044.4_Missense_Mutation_p.L490Q|TRIP12_ENST00000389045.3_Missense_Mutation_p.L145Q|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	442					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.L442Q(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCCTTGTAGTAGCTGCTGGGC	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											103	103	103					2																	230683210		2203	4300	6503	230391454	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1325T>A	2.37:g.230683210A>T	ENSP00000283943:p.Leu442Gln		230391454	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563202	0.86335	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.52754	0.65;0.65;0.65	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.71674	0.998;0.995;0.995;0.995	D;D;D;D	0.81914	0.995;0.986;0.986;0.986	T	0.78720	-0.2094	10	0.87932	D	0	.	16.0185	0.80460	1.0:0.0:0.0:0.0	.	448;145;490;442	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	Q	442;145;490	ENSP00000283943:L442Q;ENSP00000373697:L145Q;ENSP00000373696:L490Q	ENSP00000283943:L442Q	L	-	2	0	TRIP12	230391454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.187000	0.94912	2.190000	0.69967	0.454000	0.30748	CTA		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		T	230683210	A	T	230683210	3	4	283	1	0	0	0	0	1	0	0	0	16556	420	15	5	4789	5	TRIP12	2	230683210	Missense_Mutation	SNP	A	TCGA-24-2298-01A-01W-0799-08	23755563	230683210	12516163	10	15613											
MTERFD2	130916	broad.mit.edu	37	2	242035472	242035472	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr2:242035472C>G	ENST00000391980.2	-	4	1145	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	MTERFD2_ENST00000406593.1_Missense_Mutation_p.E175Q|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		363					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.E363Q(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tcgtcgtcctcatcatcgtca	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											350	239	277					2																	242035472		2203	4300	6503	241684145	SO:0001583	missense	130916																														ENST00000391980.2:c.1087G>C	2.37:g.242035472C>G	ENSP00000375840:p.Glu363Gln		241684145	A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269794	0.23221	.	.	ENSG00000122085	ENST00000391980;ENST00000406593	T;T	0.02498	4.27;4.27	2.08	2.08	0.27032	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.80722	D	1	D	0.63046	0.992	P	0.57911	0.829	T	0.58713	-0.7588	9	0.87932	D	0	.	11.3286	0.49463	0.0:1.0:0.0:0.0	.	363	Q7Z6M4	MTER2_HUMAN	Q	363;175	ENSP00000375840:E363Q;ENSP00000384998:E175Q	ENSP00000241527:E363Q	E	-	1	0	MTERFD2	241684145	0.000000	0.05858	0.019000	0.16419	0.028000	0.11728	0.130000	0.15850	1.073000	0.40885	0.585000	0.79938	GAG		0.507	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			G	242035472	C	G	242035472	3	3	283	1	0	0	0	0	1	0	0	0	9920	835	29	3	62	3	MTERFD2	2	242035472	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	11352262	242035472	1163901	11	15614											
MOBP	4336	broad.mit.edu	37	3	39543701	39543701	+	Missense_Mutation	SNP	T	T	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr3:39543701T>G	ENST00000420739.1	+	3	365	c.141T>G	c.(139-141)tgT>tgG	p.C47W	MOBP_ENST00000441980.2_Missense_Mutation_p.C47W|MOBP_ENST00000383754.3_Missense_Mutation_p.C47W|MOBP_ENST00000447324.1_Missense_Mutation_p.C47W|MOBP_ENST00000415443.1_Missense_Mutation_p.C47W|MOBP_ENST00000428261.1_Missense_Mutation_p.C47W|MOBP_ENST00000354668.4_Missense_Mutation_p.C47W|MOBP_ENST00000396228.1_Missense_Mutation_p.C47W|MOBP_ENST00000311042.6_Missense_Mutation_p.C47W			Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	47					intracellular protein transport (GO:0006886)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)		p.C47W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		ACAGCATCTGTAAGAGCGGCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	3											67	69	69					3																	39543701		2203	4300	6503	39518705	SO:0001583	missense	4336			D28113	CCDS2687.1, CCDS63598.1, CCDS2688.1	3p21.33	2004-03-02			ENSG00000168314	ENSG00000168314			7189	protein-coding gene	gene with protein product		600948				7989345	Standard	NM_001278322		Approved		uc031ryw.1	Q13875	OTTHUMG00000131347	ENST00000420739.1:c.141T>G	3.37:g.39543701T>G	ENSP00000400491:p.Cys47Trp		39518705	A8K2C2|G5E945|Q13874|Q6DHZ6|Q8TBJ1	Missense_Mutation	SNP	ENST00000420739.1	37		.	.	.	.	.	.	.	.	.	.	T	10.43	1.347081	0.24426	.	.	ENSG00000168314	ENST00000451925;ENST00000354668;ENST00000428261;ENST00000420739;ENST00000415443;ENST00000447324;ENST00000383754;ENST00000436143;ENST00000441980;ENST00000311042;ENST00000396228	D;D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	3.95	-4.87	0.03123	.	0.000000	0.85682	D	0.000000	D	0.92958	0.7759	.	.	.	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.91681	0.5358	9	0.87932	D	0	-17.5155	13.9483	0.64099	0.0:0.7349:0.0:0.2651	.	47;47;47	Q13875;G5E945;Q13875-3	MOBP_HUMAN;.;.	W	47;47;47;47;47;47;47;58;47;47;47	ENSP00000346695:C47W;ENSP00000401312:C47W;ENSP00000400491:C47W;ENSP00000388148:C47W;ENSP00000409730:C47W;ENSP00000373261:C47W;ENSP00000388827:C47W;ENSP00000312293:C47W;ENSP00000379530:C47W	ENSP00000312293:C47W	C	+	3	2	MOBP	39518705	0.998000	0.40836	0.018000	0.16275	0.827000	0.46813	0.409000	0.21082	-1.053000	0.03218	-0.924000	0.02725	TGT		0.557	MOBP-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343711.1	NM_006501, NM_182934, NM_182935		G	39543701	T	G	39543701	3	3	283	1	0	0	0	0	1	0	0	0	9688	1644	57	5	143	5	MOBP	3	39543701	Missense_Mutation	SNP	T	TCGA-24-2298-01A-01W-0799-08		39543701	158478729	12	15615											
COL6A6	131873	broad.mit.edu	37	3	130282099	130282099	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr3:130282099C>A	ENST00000358511.6	+	2	283	c.252C>A	c.(250-252)ttC>ttA	p.F84L	COL6A6_ENST00000453409.2_Missense_Mutation_p.F84L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	84	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.F84L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGCACCTTCAAAGGCAGGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	3											69	66	67					3																	130282099		1889	4104	5993	131764789	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.252C>A	3.37:g.130282099C>A	ENSP00000351310:p.Phe84Leu		131764789	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701148	0.68501	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84070	-1.8;-1.8	5.36	4.48	0.54585	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	D	0.85873	0.5798	M	0.67625	2.065	0.19300	N	0.999977	D	0.61697	0.99	P	0.59487	0.858	T	0.76666	-0.2875	10	0.36615	T	0.2	.	7.0418	0.25025	0.0:0.7055:0.0:0.2945	.	84	A6NMZ7	CO6A6_HUMAN	L	84	ENSP00000351310:F84L;ENSP00000399236:F84L	ENSP00000351310:F84L	F	+	3	2	COL6A6	131764789	0.977000	0.34250	0.913000	0.36048	0.852000	0.48524	1.436000	0.34980	1.391000	0.46566	0.561000	0.74099	TTC		0.522	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130282099	C	A	130282099	3	1	283	1	0	0	0	0	1	0	0	0	3703	825	29	3	258	3	COL6A6	3	130282099	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	90738398	130282099	67740331	13	15616											
EPHB3	2049	broad.mit.edu	37	3	184298234	184298234	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr3:184298234G>C	ENST00000330394.2	+	12	2669	c.2217G>C	c.(2215-2217)ttG>ttC	p.L739F	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	739	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.L739F(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGGGCATGTTGCGGGGCATTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	3											142	130	134					3																	184298234		2203	4300	6503	185780928	SO:0001583	missense	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2217G>C	3.37:g.184298234G>C	ENSP00000332118:p.Leu739Phe		185780928	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770341	0.49680	.	.	ENSG00000182580	ENST00000330394	T	0.62941	-0.01	3.93	1.02	0.19986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.63165	0.2488	L	0.45422	1.42	0.80722	D	1	D	0.64830	0.994	P	0.62014	0.897	T	0.61564	-0.7037	10	0.87932	D	0	.	4.9854	0.14187	0.2762:0.1558:0.5681:0.0	.	739	P54753	EPHB3_HUMAN	F	739	ENSP00000332118:L739F	ENSP00000332118:L739F	L	+	3	2	EPHB3	185780928	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.097000	0.30988	0.387000	0.25024	0.501000	0.49751	TTG		0.592	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		C	184298234	G	C	184298234	3	2	283	1	0	0	0	0	1	0	0	0	5176	1310	46	3	2263	3	EPHB3	3	184298234	Missense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08	54016135	184298234	13724196	14	15617											
ELMOD2	255520	broad.mit.edu	37	4	141446607	141446607	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr4:141446607T>A	ENST00000323570.3	+	2	157	c.25T>A	c.(25-27)Ttc>Atc	p.F9I	ELMOD2_ENST00000511887.2_Missense_Mutation_p.F9I	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	9					defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.F9I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GTGGGAGTTCTTCTATGGGCA	0.343																																																1	Substitution - Missense(1)	ovary(1)	4											121	127	125					4																	141446607		2203	4300	6503	141666057	SO:0001583	missense	255520			BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"ELMO domain containing 2"			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.25T>A	4.37:g.141446607T>A	ENSP00000326342:p.Phe9Ile		141666057	B2R712|D3DNZ0	Missense_Mutation	SNP	ENST00000323570.3	37	CCDS3752.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.797715	0.50208	.	.	ENSG00000179387	ENST00000323570;ENST00000507667;ENST00000502397	.	.	.	5.0	3.87	0.44632	.	0.270973	0.38720	N	0.001585	T	0.34077	0.0885	L	0.31294	0.92	0.44234	D	0.997072	B	0.30406	0.278	B	0.21360	0.034	T	0.16928	-1.0386	9	0.32370	T	0.25	-3.5057	8.0472	0.30555	0.0:0.1345:0.0:0.8655	.	9	Q8IZ81	ELMD2_HUMAN	I	9	.	ENSP00000326342:F9I	F	+	1	0	ELMOD2	141666057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.357000	0.34090	1.876000	0.54355	0.459000	0.35465	TTC		0.343	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702		A	141446607	T	A	141446607	3	1	283	1	0	0	0	0	1	0	0	0	5069	1609	56	5	27	5	ELMOD2	4	141446607	Missense_Mutation	SNP	T	TCGA-24-2298-01A-01W-0799-08		141446607	49707669	15	15618											
FAM65B	9750	broad.mit.edu	37	6	24869353	24869353	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr6:24869353T>A	ENST00000259698.4	-	6	558	c.383A>T	c.(382-384)tAc>tTc	p.Y128F	FAM65B_ENST00000540914.1_Missense_Mutation_p.Y128F|FAM65B_ENST00000510784.2_Missense_Mutation_p.Y162F|FAM65B_ENST00000538035.1_Missense_Mutation_p.Y157F|FAM65B_ENST00000378023.4_Missense_Mutation_p.Y128F	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	128					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.Y128F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GCGTCTCATGTATCTTTCAAT	0.328																																																1	Substitution - Missense(1)	ovary(1)	6											87	77	80					6																	24869353		1813	4070	5883	24977332	SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.383A>T	6.37:g.24869353T>A	ENSP00000259698:p.Tyr128Phe		24977332	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.724954	0.68959	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02787	4.16;4.16;4.16;4.16;4.16	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	L	0.35414	1.06	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.996;0.997;0.997	T	0.61811	-0.6986	10	0.12430	T	0.62	-23.2924	16.5724	0.84622	0.0:0.0:0.0:1.0	.	162;157;128;128	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	F	128;157;128;128;162	ENSP00000259698:Y128F;ENSP00000441138:Y157F;ENSP00000367262:Y128F;ENSP00000438425:Y128F;ENSP00000441305:Y162F	ENSP00000259698:Y128F	Y	-	2	0	FAM65B	24977332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.972000	0.49256	2.313000	0.78055	0.455000	0.32223	TAC		0.328	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			A	24869353	T	A	24869353	3	1	283	1	0	0	0	0	1	0	0	0	5600	1638	57	5	2905	5	FAM65B	6	24869353	Missense_Mutation	SNP	T	TCGA-24-2298-01A-01W-0799-08		24869353	146245714	16	15619											
MAS1L	116511	broad.mit.edu	37	6	29454674	29454674	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr6:29454674C>T	ENST00000377127.3	-	1	1064	c.1006G>A	c.(1006-1008)Gcg>Acg	p.A336T		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	336					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A336T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCTGCTAACGCCCGTTGGAGA	0.493																																					NSCLC(153;755 1987 3859 11251 32945)											1	Substitution - Missense(1)	ovary(1)	6											136	138	137					6																	29454674		2203	4300	6503	29562653	SO:0001583	missense	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1006G>A	6.37:g.29454674C>T	ENSP00000366331:p.Ala336Thr		29562653	Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653485	0.29425	.	.	ENSG00000204687	ENST00000377127	T	0.37235	1.21	2.23	1.3	0.21679	.	.	.	.	.	T	0.26629	0.0651	M	0.69185	2.1	0.09310	N	1	P	0.36378	0.55	P	0.45639	0.488	T	0.25779	-1.0122	9	0.62326	D	0.03	.	8.557	0.33487	0.0:0.7588:0.2412:0.0	.	336	P35410	MAS1L_HUMAN	T	336	ENSP00000366331:A336T	ENSP00000366331:A336T	A	-	1	0	MAS1L	29562653	0.006000	0.16342	0.001000	0.08648	0.002000	0.02628	1.472000	0.35376	0.281000	0.22233	0.501000	0.49751	GCG		0.493	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		T	29454674	C	T	29454674	3	4	283	1	0	0	0	0	1	0	0	0	9321	739	26	2	132	2	MAS1L	6	29454674	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	4585321	29454674	141660393	17	15620											
KLHL31	401265	broad.mit.edu	37	6	53518999	53518999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr6:53518999G>A	ENST00000407079.1	-	1	1071	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	KLHL31_ENST00000370905.3_Nonsense_Mutation_p.Q358*			Q9H511	KLH31_HUMAN	kelch-like family member 31	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.Q358*(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCCACACACTGATTAAAACTT	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	6											114	109	111					6																	53518999		2203	4300	6503	53626958	SO:0001587	stop_gained	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1072C>T	6.37:g.53518999G>A	ENSP00000384644:p.Gln358*		53626958	A6N9J2|B2RP49	Nonsense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	36	5.629582	0.96671	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.8839	0.92367	0.0:0.0:1.0:0.0	.	.	.	.	X	358	.	ENSP00000359942:Q358X	Q	-	1	0	KLHL31	53626958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.467000	0.83353	0.561000	0.74099	CAG		0.458	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		A	53518999	G	A	53518999	4	1	283	1	0	0	0	0	0	1	0	0	8385	1299	45	2	840	2	KLHL31	6	53518999	Nonsense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08	24064325	53518999	117596068	18	15621											
PIK3CG	5294	broad.mit.edu	37	7	106513376	106513376	+	Missense_Mutation	SNP	T	T	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr7:106513376T>A	ENST00000359195.3	+	4	2590	c.2280T>A	c.(2278-2280)agT>agA	p.S760R	PIK3CG_ENST00000496166.1_Missense_Mutation_p.S760R|PIK3CG_ENST00000440650.2_Missense_Mutation_p.S760R	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	760					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S760R(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATGACGTCAGTTCCCAAGGTA	0.408																																																1	Substitution - Missense(1)	ovary(1)	7											91	88	89					7																	106513376		2203	4300	6503	106300612	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2280T>A	7.37:g.106513376T>A	ENSP00000352121:p.Ser760Arg		106300612	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328738	0.41197	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.92	-0.216	0.13153	Protein kinase-like domain (1);	.	.	.	.	T	0.64136	0.2571	N	0.22421	0.69	0.38485	D	0.947836	B	0.06786	0.001	B	0.10450	0.005	T	0.51060	-0.8753	9	0.15499	T	0.54	-23.1633	10.3477	0.43916	0.0:0.3168:0.0:0.6832	.	760	P48736	PK3CG_HUMAN	R	760;760;33;760	ENSP00000392258:S760R;ENSP00000419260:S760R;ENSP00000417623:S33R;ENSP00000352121:S760R	ENSP00000352121:S760R	S	+	3	2	PIK3CG	106300612	0.102000	0.21896	1.000000	0.80357	0.862000	0.49288	-0.518000	0.06267	0.160000	0.19432	0.533000	0.62120	AGT		0.408	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106513376	T	A	106513376	3	1	283	1	0	0	0	0	1	0	0	0	11916	1722	60	5	2290	5	PIK3CG	7	106513376	Missense_Mutation	SNP	T	TCGA-24-2298-01A-01W-0799-08		106513376	52625287	19	15622											
C7orf60	154743	broad.mit.edu	37	7	112461967	112461967	+	Silent	SNP	C	C	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr7:112461967C>T	ENST00000297145.4	-	5	1215	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	350							rRNA (adenine) methyltransferase activity (GO:0016433)	p.E350E(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TAGAATATTCCTCATCTTCTA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	7											47	46	46					7																	112461967		1833	4082	5915	112249203	SO:0001819	synonymous_variant	154743				CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"hypothetical protein FLJ31818"						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.1050G>A	7.37:g.112461967C>T			112249203	Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	CCDS43634.1																																																																																				0.373	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		T	112461967	C	T	112461967	2	4	283	1	0	0	0	0	0	0	0	1	2407	680	24	2		2	C7orf60	7	112461967	Silent	SNP	C	TCGA-24-2298-01A-01W-0799-08	5948591	112461967	46676696	20	15623											
ARF5	381	broad.mit.edu	37	7	127230153	127230153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr7:127230153G>T	ENST00000000233.5	+	4	446	c.292G>T	c.(292-294)Gag>Tag	p.E98*	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	98					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E98*(1)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TAATGACCGGGAGCGGGTCCA	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	7											121	126	124					7																	127230153		2203	4300	6503	127017389	SO:0001587	stop_gained	381				CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"ADP-ribosylation factors"	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.292G>T	7.37:g.127230153G>T	ENSP00000000233:p.Glu98*		127017389	P26437	Nonsense_Mutation	SNP	ENST00000000233.5	37	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	G	37	6.166692	0.97343	.	.	ENSG00000004059	ENST00000000233;ENST00000415666	.	.	.	5.31	5.31	0.75309	.	0.050830	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.0796	16.4691	0.84095	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000000233:E98X	E	+	1	0	ARF5	127017389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.744000	0.98853	2.485000	0.83878	0.484000	0.47621	GAG		0.552	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		T	127230153	G	T	127230153	4	4	283	1	0	0	0	0	0	1	0	0	847	1175	41	3	306	3	ARF5	7	127230153	Nonsense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08	14768186	127230153	31908510	21	15624											
SLC18A1	6570	broad.mit.edu	37	8	20038460	20038460	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr8:20038460G>C	ENST00000276373.5	-	2	282	c.16C>G	c.(16-18)Ctg>Gtg	p.L6V	SLC18A1_ENST00000437980.1_Missense_Mutation_p.L6V|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L6V|SLC18A1_ENST00000265808.7_Missense_Mutation_p.L6V|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L6V|SLC18A1_ENST00000440926.1_Missense_Mutation_p.L6V	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	6					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.L6V(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GGAGCATCCAGAATGGTCCGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	8											53	44	47					8																	20038460		2200	4297	6497	20082740	SO:0001583	missense	6570				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.16C>G	8.37:g.20038460G>C	ENSP00000276373:p.Leu6Val		20082740	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570254	0.28003	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.04275	3.96;3.96;3.96;3.94;3.96;3.94;3.66	5.71	0.111	0.14619	.	1.125910	0.06582	N	0.750533	T	0.03695	0.0105	L	0.38838	1.175	0.09310	N	1	B;B;B	0.25563	0.129;0.104;0.104	B;B;B	0.20955	0.032;0.022;0.022	T	0.47497	-0.9113	10	0.21540	T	0.41	-0.6217	1.5335	0.02540	0.4208:0.1378:0.3025:0.139	.	6;6;6	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	V	6	ENSP00000265808:L6V;ENSP00000276373:L6V;ENSP00000387549:L6V;ENSP00000413361:L6V;ENSP00000429664:L6V;ENSP00000371021:L6V;ENSP00000428999:L6V	ENSP00000265808:L6V	L	-	1	2	SLC18A1	20082740	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	0.317000	0.19487	0.254000	0.21573	0.655000	0.94253	CTG		0.602	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			C	20038460	G	C	20038460	3	2	283	1	0	0	0	0	1	0	0	0	14428	933	33	3	1621	3	SLC18A1	8	20038460	Missense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08		20038460	126325562	22	15625											
TMEM70	54968	broad.mit.edu	37	8	74893720	74893720	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr8:74893720C>T	ENST00000312184.5	+	3	720	c.647C>T	c.(646-648)aCa>aTa	p.T216I	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	216					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)		p.T216I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			TATGCTAAAACAAAATCACTG	0.343																																																1	Substitution - Missense(1)	ovary(1)	8											103	99	100					8																	74893720		2203	4300	6503	75056274	SO:0001583	missense	54968			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.647C>T	8.37:g.74893720C>T	ENSP00000312599:p.Thr216Ile		75056274	E9PDY9|Q9NWY5	Missense_Mutation	SNP	ENST00000312184.5	37	CCDS6215.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400130	0.62177	.	.	ENSG00000175606	ENST00000312184	T	0.64991	-0.13	5.38	4.49	0.54785	.	0.336035	0.31392	N	0.007735	T	0.69922	0.3165	L	0.60455	1.87	0.35739	D	0.818551	D	0.55800	0.973	P	0.57846	0.828	T	0.78147	-0.2317	10	0.59425	D	0.04	-4.3983	11.1443	0.48422	0.1442:0.7171:0.1388:0.0	.	216	Q9BUB7	TMM70_HUMAN	I	216	ENSP00000312599:T216I	ENSP00000312599:T216I	T	+	2	0	TMEM70	75056274	0.898000	0.30612	1.000000	0.80357	0.805000	0.45488	1.660000	0.37397	1.466000	0.48025	0.655000	0.94253	ACA		0.343	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		T	74893720	C	T	74893720	3	4	283	1	0	0	0	0	1	0	0	0	16199	478	17	2	665	2	TMEM70	8	74893720	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	54855260	74893720	71470302	23	15626											
COL22A1	169044	broad.mit.edu	37	8	139606337	139606337	+	Missense_Mutation	SNP	C	C	T	rs200298766		TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr8:139606337C>T	ENST00000303045.6	-	63	4984	c.4538G>A	c.(4537-4539)cGg>cAg	p.R1513Q	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.R1493Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1513	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1513Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGCCGGCCCGGCCTGGAAG	0.662										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	ovary(1)	8																																								139675519	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4538G>A	8.37:g.139606337C>T	ENSP00000303153:p.Arg1513Gln		139675519	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573540	0.65765	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93906	-3.31;-3.31	5.92	4.14	0.48551	.	0.138852	0.30930	N	0.008598	D	0.88108	0.6348	N	0.16368	0.405	0.19945	N	0.999945	P;B	0.37083	0.581;0.175	B;B	0.43950	0.437;0.02	T	0.77504	-0.2563	10	0.13470	T	0.59	.	12.0321	0.53403	0.0:0.8609:0.0:0.1391	.	1493;1513	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Q	1513;1493;1206	ENSP00000303153:R1513Q;ENSP00000387655:R1493Q	ENSP00000303153:R1513Q	R	-	2	0	COL22A1	139675519	0.955000	0.32602	0.476000	0.27291	0.817000	0.46193	3.106000	0.50322	0.861000	0.35504	0.650000	0.86243	CGG		0.662	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139606337	C	T	139606337	3	4	283	1	0	0	0	0	1	0	0	0	3681	652	23	1	354	1	COL22A1	8	139606337	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	64712617	139606337	6757685	24	15627											
AK3	50808	broad.mit.edu	37	9	4722564	4722564	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr9:4722564C>G	ENST00000381809.3	-	2	443	c.213G>C	c.(211-213)atG>atC	p.M71I	AK3_ENST00000447596.4_Intron|AK3_ENST00000359883.2_Start_Codon_SNP_p.M1I	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	69					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)	p.M71I(1)		large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	CCAGCCGAGTCATGACATCAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	9											97	88	91					9																	4722564		2203	4300	6503	4712564	SO:0001583	missense	50808			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"adenylate kinase 6", "adenylate kinase 3 like 1"	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.213G>C	9.37:g.4722564C>G	ENSP00000371230:p.Met71Ile		4712564	B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	ENST00000381809.3	37	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956812	0.18507	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822	T;T	0.79247	-0.85;-1.25	5.51	5.51	0.81932	.	0.100669	0.85682	D	0.000000	T	0.56156	0.1966	N	0.03050	-0.425	0.80722	D	1	B	0.23249	0.082	B	0.30029	0.11	T	0.56147	-0.8027	10	0.09338	T	0.73	-23.797	14.9577	0.71131	0.0:0.8575:0.1425:0.0	.	71	Q9UIJ7	KAD3_HUMAN	I	71;1;1	ENSP00000371230:M71I;ENSP00000352948:M1I	ENSP00000352948:M1I	M	-	3	0	AK3	4712564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.580000	0.36547	2.599000	0.87857	0.591000	0.81541	ATG		0.458	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	NM_016282		G	4722564	C	G	4722564	3	3	283	1	0	0	0	0	1	0	0	0	441	826	29	3	486	3	AK3	9	4722564	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08		4722564	136490867	25	15628											
PRUNE2	158471	broad.mit.edu	37	9	79324786	79324786	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr9:79324786C>A	ENST00000376718.3	-	8	2527	c.2404G>T	c.(2404-2406)Gca>Tca	p.A802S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A443S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	802					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.A802S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTACCAAATGCACTCCAGGCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	9											42	39	40					9																	79324786		1568	3582	5150	78514606	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2404G>T	9.37:g.79324786C>A	ENSP00000365908:p.Ala802Ser		78514606	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.128|9.128	1.010604|1.010604	0.19277|0.19277	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.23348|.	1.91;1.91|.	5.71|5.71	4.71|4.71	0.59529|0.59529	.|.	0.281919|.	0.25660|.	N|.	0.029159|.	T|T	0.44222|0.44222	0.1283|0.1283	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P|.	0.49090|.	0.919|.	B|.	0.42692|.	0.395|.	T|T	0.23261|0.23261	-1.0193|-1.0193	10|5	0.66056|.	D|.	0.02|.	-12.2181|-12.2181	7.3227|7.3227	0.26536|0.26536	0.0:0.7961:0.0:0.2039|0.0:0.7961:0.0:0.2039	.|.	802|.	Q8WUY3|.	PRUN2_HUMAN|.	S|F	802;443;801|123	ENSP00000365908:A802S;ENSP00000397425:A443S|.	ENSP00000365908:A802S|.	A|C	-|-	1|2	0|0	PRUNE2|PRUNE2	78514606|78514606	0.710000|0.710000	0.27896|0.27896	1.000000|1.000000	0.80357|0.80357	0.074000|0.074000	0.17049|0.17049	1.925000|1.925000	0.40074|0.40074	2.699000|2.699000	0.92147|0.92147	0.462000|0.462000	0.41574|0.41574	GCA|TGC		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		A	79324786	C	A	79324786	3	1	283	1	0	0	0	0	1	0	0	0	12644	710	25	3	6910	3	PRUNE2	9	79324786	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	74602222	79324786	61888645	26	15629											
DCHS1	8642	broad.mit.edu	37	11	6646656	6646656	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr11:6646656G>T	ENST00000299441.3	-	19	7330	c.6919C>A	c.(6919-6921)Ccc>Acc	p.P2307T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2307	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2307T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAGCACGGGTCCTGAGTCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	11											142	123	129					11																	6646656		2201	4296	6497	6603232	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6919C>A	11.37:g.6646656G>T	ENSP00000299441:p.Pro2307Thr		6603232	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903547	0.72754	.	.	ENSG00000166341	ENST00000299441	T	0.54479	0.57	4.93	4.93	0.64822	Cadherin (4);Cadherin-like (1);	0.000000	0.42548	D	0.000699	T	0.67496	0.2899	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.64419	-0.6412	10	0.34782	T	0.22	.	16.9038	0.86120	0.0:0.0:1.0:0.0	.	2307	Q96JQ0	PCD16_HUMAN	T	2307	ENSP00000299441:P2307T	ENSP00000299441:P2307T	P	-	1	0	DCHS1	6603232	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.147000	0.94646	2.561000	0.86390	0.655000	0.94253	CCC		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6646656	G	T	6646656	3	4	283	1	0	0	0	0	1	0	0	0	4287	1261	44	3	2989	3	DCHS1	11	6646656	Missense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08		6646656	128359860	27	15630											
METT5D1	196074	broad.mit.edu	37	11	28135029	28135029	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr11:28135029G>T	ENST00000407364.3	+	3	500	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	METTL15_ENST00000379199.2_Missense_Mutation_p.D50Y|METTL15_ENST00000303459.6_Missense_Mutation_p.D50Y|METTL15_ENST00000342303.5_Missense_Mutation_p.D50Y|METTL15_ENST00000403099.1_Missense_Mutation_p.D50Y|METTL15_ENST00000406787.3_Missense_Mutation_p.D50Y			A6NJ78	MET15_HUMAN	methyltransferase like 15	50							methyltransferase activity (GO:0008168)	p.D50Y(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						GGAGCAAACAGATCAAACTCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	11											52	59	57					11																	28135029		2202	4299	6501	28091605	SO:0001583	missense	196074			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.148G>T	11.37:g.28135029G>T	ENSP00000384369:p.Asp50Tyr		28091605	A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	G	3.329	-0.137051	0.06711	.	.	ENSG00000169519	ENST00000406787;ENST00000342303;ENST00000403099;ENST00000407364;ENST00000379199;ENST00000303459	T;T;T;T;T;T	0.46063	1.43;1.46;0.88;1.88;0.88;1.46	5.68	0.285	0.15705	.	1.560150	0.03265	N	0.183849	T	0.28466	0.0704	N	0.16478	0.41	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.08055	0.0;0.001;0.003	T	0.23190	-1.0195	10	0.46703	T	0.11	.	6.4548	0.21924	0.1468:0.0:0.3386:0.5146	.	50;50;50	A6NJ78;A6NJ78-2;A6NJ78-4	MET15_HUMAN;.;.	Y	50	ENSP00000385507:D50Y;ENSP00000342259:D50Y;ENSP00000385860:D50Y;ENSP00000384369:D50Y;ENSP00000368497:D50Y;ENSP00000307251:D50Y	ENSP00000307251:D50Y	D	+	1	0	METTL15	28091605	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.901000	0.04093	0.089000	0.17243	-0.230000	0.12252	GAT		0.383	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		T	28135029	G	T	28135029	3	4	283	1	0	0	0	0	1	0	0	0	9492	942	33	3	150	3	METT5D1	11	28135029	Missense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08	21488373	28135029	106871487	28	15631											
ARFGAP2	84364	broad.mit.edu	37	11	47196804	47196804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr11:47196804G>A	ENST00000524782.1	-	4	553	c.325C>T	c.(325-327)Cga>Tga	p.R109*	ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000419701.2_Nonsense_Mutation_p.R30*|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	109	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R109*(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGGCAGCTCGGCTATTATAT	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	11											110	113	112					11																	47196804		2201	4298	6499	47153380	SO:0001587	stop_gained	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.325C>T	11.37:g.47196804G>A	ENSP00000434442:p.Arg109*		47153380	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Nonsense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819227	0.71028	.	.	ENSG00000149182	ENST00000524782;ENST00000419701;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	.	.	.	5.52	5.52	0.82312	.	0.060746	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0328	19.4741	0.94979	0.0:0.0:1.0:0.0	.	.	.	.	X	109;30;109;109;109;102	.	ENSP00000389264:R30X	R	-	1	2	ARFGAP2	47153380	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.612000	0.36889	2.595000	0.87683	0.655000	0.94253	CGA		0.567	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		A	47196804	G	A	47196804	4	1	283	1	0	0	0	0	0	1	0	0	850	1124	39	1	1292	1	ARFGAP2	11	47196804	Nonsense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08	19061775	47196804	87809712	29	15632											
NCAPD3	23310	broad.mit.edu	37	11	134090513	134090513	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr11:134090513A>T	ENST00000534548.2	-	2	236	c.172T>A	c.(172-174)Tat>Aat	p.Y58N		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	58					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Y58N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGCTTTCATAGAGTTTTGTG	0.408																																																1	Substitution - Missense(1)	ovary(1)	11											203	175	184					11																	134090513		2201	4297	6498	133595723	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.172T>A	11.37:g.134090513A>T	ENSP00000433681:p.Tyr58Asn		133595723	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487956	0.26686	.	.	ENSG00000151503	ENST00000534548;ENST00000525485	T	0.24538	1.85	5.56	1.84	0.25277	.	0.290655	0.39909	N	0.001229	T	0.24470	0.0593	L	0.56769	1.78	0.53688	D	0.999973	P	0.48089	0.905	B	0.44108	0.441	T	0.02238	-1.1190	10	0.72032	D	0.01	-8.552	5.3644	0.16105	0.6516:0.137:0.2115:0.0	.	58	P42695	CNDD3_HUMAN	N	58	ENSP00000433681:Y58N	ENSP00000436037:Y58N	Y	-	1	0	NCAPD3	133595723	0.935000	0.31712	0.508000	0.27688	0.274000	0.26718	1.879000	0.39618	0.058000	0.16222	0.533000	0.62120	TAT		0.408	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134090513	A	T	134090513	3	4	283	1	0	0	0	0	1	0	0	0	10206	420	15	5	4460	5	NCAPD3	11	134090513	Missense_Mutation	SNP	A	TCGA-24-2298-01A-01W-0799-08	86893709	134090513	916003	30	15633											
CD9	928	broad.mit.edu	37	12	6309730	6309730	+	Splice_Site	SNP	G	G	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr12:6309730G>T	ENST00000382518.1	+	2	501	c.65G>T	c.(64-66)tGg>tTg	p.W22L	CD9_ENST00000009180.4_Splice_Site_p.W22L|CD9_ENST00000382515.2_5'Flank			P21926	CD9_HUMAN	CD9 molecule	22					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)		p.W22L(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						TTCATCTTCTGGGTGAGTGAG	0.652																																																1	Substitution - Missense(1)	ovary(1)	12											84	75	79					12																	6309730		2203	4300	6503	6179991	SO:0001630	splice_region_variant	928			M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"CD molecules", "Tetraspanins"	1709	protein-coding gene	gene with protein product	"motility related protein-1"	143030	"CD9 antigen (p24)"	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.66+1G>T	12.37:g.6309730G>T			6179991	D3DUQ9|Q5J7W6|Q96ES4	Missense_Mutation	SNP	ENST00000382518.1	37	CCDS8540.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025188	0.54683	.	.	ENSG00000010278	ENST00000382518;ENST00000536586;ENST00000382519;ENST00000425469;ENST00000009180	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.21	3.3	0.37823	.	0.298550	0.40302	N	0.001139	D	0.83422	0.5251	M	0.77712	2.385	0.80722	D	1	P;D;B	0.63880	0.568;0.993;0.016	P;P;B	0.58130	0.464;0.833;0.076	D	0.83431	0.0038	10	0.59425	D	0.04	.	9.0899	0.36603	0.0:0.0:0.781:0.219	.	22;22;22	B4DK09;B4DL91;P21926	.;.;CD9_HUMAN	L	22	ENSP00000371958:W22L;ENSP00000440985:W22L;ENSP00000371959:W22L;ENSP00000009180:W22L	ENSP00000009180:W22L	W	+	2	0	CD9	6179991	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.636000	0.67848	0.955000	0.37878	0.544000	0.68410	TGG		0.652	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1		Missense_Mutation	T	6309730	G	T	6309730	5	4	283	1	0	0	0	0	0	0	1	0	3046	1362	47	3	67	3	CD9	12	6309730	Splice_Site	SNP	G	TCGA-24-2298-01A-01W-0799-08		6309730	127542165	31	15634											
LPAR5	57121	broad.mit.edu	37	12	6730295	6730295	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr12:6730295G>T	ENST00000329858.4	-	2	876	c.120C>A	c.(118-120)aaC>aaA	p.N40K	LPAR5_ENST00000431922.1_Missense_Mutation_p.N40K|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N40K(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GGGCTAGCGCGTTGAGGGGGA	0.637																																					NSCLC(74;891 2312 37538)											1	Substitution - Missense(1)	ovary(1)	12											84	75	78					12																	6730295		2203	4300	6503	6600556	SO:0001583	missense	57121			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.120C>A	12.37:g.6730295G>T	ENSP00000327875:p.Asn40Lys		6600556		Missense_Mutation	SNP	ENST00000329858.4	37	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486808	0.44249	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	D;D	0.96619	-4.07;-4.07	5.16	-0.1	0.13621	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.98232	0.9415	H	0.96080	3.765	0.38636	D	0.951503	D	0.89917	1.0	D	0.91635	0.999	D	0.97277	0.9915	10	0.87932	D	0	.	8.1756	0.31281	0.6643:0.0:0.3357:0.0	.	40	Q9H1C0	LPAR5_HUMAN	K	40	ENSP00000327875:N40K;ENSP00000393098:N40K	ENSP00000327875:N40K	N	-	3	2	LPAR5	6600556	0.067000	0.21026	0.931000	0.37212	0.155000	0.21991	0.426000	0.21363	0.074000	0.16767	-0.291000	0.09656	AAC		0.637	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		T	6730295	G	T	6730295	3	4	283	1	0	0	0	0	1	0	0	0	8908	1136	40	3	1002	3	LPAR5	12	6730295	Missense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08	420565	6730295	127121600	32	15635											
ITGA7	3679	broad.mit.edu	37	12	56092571	56092571	+	Silent	SNP	G	G	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr12:56092571G>A	ENST00000555728.1	-	7	1081	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	ITGA7_ENST00000347027.6_Silent_p.P307P|ITGA7_ENST00000394230.2_Silent_p.P311P|ITGA7_ENST00000257880.7_Silent_p.P351P|ITGA7_ENST00000452168.2_Silent_p.P214P|ITGA7_ENST00000394229.2_Silent_p.P307P|ITGA7_ENST00000553804.1_Silent_p.P311P|ITGA7_ENST00000257879.6_Silent_p.P307P			Q13683	ITA7_HUMAN	integrin, alpha 7	351					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.P307P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCATAACCTCGGGCACCAGGC	0.642																																																1	Substitution - coding silent(1)	ovary(1)	12											64	52	56					12																	56092571		2203	4300	6503	54378838	SO:0001819	synonymous_variant	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1053C>T	12.37:g.56092571G>A			54378838	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37																																																																																					0.642	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		A	56092571	G	A	56092571	2	1	283	1	0	0	0	0	0	0	0	1	7881	1103	39	1		1	ITGA7	12	56092571	Silent	SNP	G	TCGA-24-2298-01A-01W-0799-08	49362276	56092571	77759324	33	15636											
DRAM1	55332	broad.mit.edu	37	12	102315002	102315002	+	Silent	SNP	C	C	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr12:102315002C>A	ENST00000258534.8	+	7	1120	c.681C>A	c.(679-681)acC>acA	p.T227T	RP11-512N21.3_ENST00000551918.1_RNA|DRAM1_ENST00000544152.1_Silent_p.T117T	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	227					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.T121T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						AGAGTGTCACCCTAAGGATAT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	12											122	115	117					12																	102315002		1846	4092	5938	100839133	SO:0001819	synonymous_variant	55332			BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"damage-regulated autophagy modulator"	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.681C>A	12.37:g.102315002C>A			100839133	B7Z4T0|Q7L3E3|Q9NUN1	Silent	SNP	ENST00000258534.8	37	CCDS41823.1																																																																																				0.383	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370		A	102315002	C	A	102315002	2	1	283	1	0	0	0	0	0	0	0	1	4753	610	22	3		3	DRAM1	12	102315002	Silent	SNP	C	TCGA-24-2298-01A-01W-0799-08	46222431	102315002	31536893	34	15637											
ALG11	440138	broad.mit.edu	37	13	52593264	52593264	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr13:52593264G>C	ENST00000521508.1	+	2	265	c.260G>C	c.(259-261)aGa>aCa	p.R87T	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	87					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.R87T(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TGTGCTTTAAGAGCCCTGCAG	0.323																																																1	Substitution - Missense(1)	ovary(1)	13											59	56	57					13																	52593264		2203	4300	6503	51491265	SO:0001583	missense	440138			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.260G>C	13.37:g.52593264G>C	ENSP00000430236:p.Arg87Thr		51491265	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164892	0.57476	.	.	ENSG00000253710	ENST00000521508	T	0.80653	-1.4	5.65	4.81	0.61882	.	0.000000	0.85682	U	0.000000	D	0.86502	0.5948	M	0.91406	3.205	0.80722	D	1	P	0.52577	0.954	P	0.46299	0.511	D	0.89348	0.3659	10	0.72032	D	0.01	.	14.4288	0.67236	0.0709:0.0:0.9291:0.0	.	87	Q2TAA5	ALG11_HUMAN	T	87	ENSP00000430236:R87T	ENSP00000430236:R87T	R	+	2	0	ALG11	51491265	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.412000	0.80091	1.395000	0.46643	0.579000	0.79373	AGA		0.323	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		C	52593264	G	C	52593264	3	2	283	1	0	0	0	0	1	0	0	0	513	942	33	3	266	3	ALG11	13	52593264	Missense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08		52593264	62576614	35	15638											
PCDH9	5101	broad.mit.edu	37	13	67799663	67799663	+	Missense_Mutation	SNP	G	G	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr13:67799663G>T	ENST00000377865.2	-	1	3044	c.2910C>A	c.(2908-2910)gaC>gaA	p.D970E	PCDH9_ENST00000377861.3_Missense_Mutation_p.D970E|PCDH9_ENST00000544246.1_Missense_Mutation_p.D970E|PCDH9_ENST00000456367.1_Missense_Mutation_p.D970E|PCDH9_ENST00000328454.5_Missense_Mutation_p.D970E			Q9HC56	PCDH9_HUMAN	protocadherin 9	970					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D970E(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CAAAGGTGTTGTCCAAAGGGA	0.483																																																1	Substitution - Missense(1)	ovary(1)	13											145	142	143					13																	67799663		2203	4300	6503	66697664	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2910C>A	13.37:g.67799663G>T	ENSP00000367096:p.Asp970Glu		66697664	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745389	0.49151	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.63	5.63	0.86233	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.62723	1.935	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.51164	-0.8740	10	0.46703	T	0.11	.	19.6647	0.95889	0.0:0.0:1.0:0.0	.	970;970;970;970	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	E	970	ENSP00000442186:D970E;ENSP00000367096:D970E;ENSP00000401699:D970E;ENSP00000332060:D970E;ENSP00000367092:D970E	ENSP00000332060:D970E	D	-	3	2	PCDH9	66697664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.268000	0.78473	2.651000	0.90000	0.655000	0.94253	GAC		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		T	67799663	G	T	67799663	3	4	283	1	0	0	0	0	1	0	0	0	11518	1368	48	3	819	3	PCDH9	13	67799663	Missense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08	15206399	67799663	47370215	36	15639											
RPGRIP1	57096	broad.mit.edu	37	14	21819340	21819340	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr14:21819340A>G	ENST00000400017.2	+	24	3826	c.3826A>G	c.(3826-3828)Att>Gtt	p.I1276V	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I602V|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.I1276V|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I933V|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I1238V|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.I635V	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1276	Interaction with RPGR. {ECO:0000269|PubMed:24981858}.				eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.I892V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCTCCATGCTATTTACAAGGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	14											70	62	64					14																	21819340		1869	4111	5980	20889180	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3826A>G	14.37:g.21819340A>G	ENSP00000382895:p.Ile1276Val		20889180	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.448864	0.01080	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	4.6	2.23	0.28157	.	0.150821	0.43260	N	0.000587	T	0.56485	0.1988	N	0.25647	0.755	0.23616	N	0.997281	B;B;B;B;B;P	0.35192	0.02;0.02;0.02;0.384;0.081;0.489	B;B;B;B;B;B	0.41374	0.061;0.061;0.036;0.355;0.061;0.044	T	0.51639	-0.8680	10	0.02654	T	1	-4.0455	6.2773	0.20987	0.705:0.0:0.295:0.0	.	659;635;751;602;892;1276	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	V	933;1238;1276;1276;602;751;635	ENSP00000450445:I933V;ENSP00000451219:I1238V;ENSP00000382895:I1276V;ENSP00000206660:I1276V;ENSP00000372391:I602V;ENSP00000451262:I751V;ENSP00000309721:I635V	ENSP00000206660:I1276V	I	+	1	0	RPGRIP1	20889180	0.983000	0.35010	0.535000	0.28026	0.958000	0.62258	1.314000	0.33597	0.299000	0.22661	0.456000	0.33151	ATT		0.413	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		G	21819340	A	G	21819340	3	3	283	1	0	0	0	0	1	0	0	0	13552	449	16	4	3920	4	RPGRIP1	14	21819340	Missense_Mutation	SNP	A	TCGA-24-2298-01A-01W-0799-08		21819340	85530200	37	15640											
AKAP6	9472	broad.mit.edu	37	14	33291441	33291441	+	Missense_Mutation	SNP	A	A	C			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr14:33291441A>C	ENST00000280979.4	+	13	4592	c.4422A>C	c.(4420-4422)caA>caC	p.Q1474H	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1474					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q1474H(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATACCTCCAAGGCTCAAAAC	0.353																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - Missense(1)	ovary(1)	14											75	73	74					14																	33291441		2203	4300	6503	32361192	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4422A>C	14.37:g.33291441A>C	ENSP00000280979:p.Gln1474His		32361192	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276089	0.40294	.	.	ENSG00000151320	ENST00000280979	T	0.08984	3.03	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000002	T	0.24314	0.0589	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.00662	-1.1621	10	0.87932	D	0	-9.713	9.2882	0.37771	0.9186:0.0:0.0814:0.0	.	1474	Q13023	AKAP6_HUMAN	H	1474	ENSP00000280979:Q1474H	ENSP00000280979:Q1474H	Q	+	3	2	AKAP6	32361192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.449000	0.52950	2.033000	0.60031	0.460000	0.39030	CAA		0.353	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		C	33291441	A	C	33291441	3	2	283	1	0	0	0	0	1	0	0	0	455	69	3	5	4468	5	AKAP6	14	33291441	Missense_Mutation	SNP	A	TCGA-24-2298-01A-01W-0799-08	11472101	33291441	74058099	38	15641											
SRP54	6729	broad.mit.edu	37	14	35492183	35492183	+	Silent	SNP	A	A	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr14:35492183A>G	ENST00000556994.1	+	15	1621	c.1224A>G	c.(1222-1224)agA>agG	p.R408R	SRP54_ENST00000546080.1_Silent_p.R359R|SRP54_ENST00000216774.6_Silent_p.R408R|SRP54_ENST00000555557.1_Silent_p.R344R			P61011	SRP54_HUMAN	signal recognition particle 54kDa	408	M-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)	p.R408R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GAGTAGCAAGAGGATCGGGTG	0.393																																																1	Substitution - coding silent(1)	ovary(1)	14											107	99	102					14																	35492183		2203	4300	6503	34561934	SO:0001819	synonymous_variant	6729			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.1224A>G	14.37:g.35492183A>G			34561934	B2R759|B4DUW6|P13624	Silent	SNP	ENST00000556994.1	37	CCDS9652.1																																																																																				0.393	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		G	35492183	A	G	35492183	2	3	283	1	0	0	0	0	0	0	0	1	15157	301	11	4		4	SRP54	14	35492183	Silent	SNP	A	TCGA-24-2298-01A-01W-0799-08	2200742	35492183	71857357	39	15642											
FUT8	2530	broad.mit.edu	37	14	66136172	66136172	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr14:66136172C>T	ENST00000360689.5	+	7	2536	c.809C>T	c.(808-810)tCt>tTt	p.S270F	FUT8_ENST00000557164.1_Missense_Mutation_p.S107F|FUT8_ENST00000394585.1_Missense_Mutation_p.S270F|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000358307.2_Missense_Mutation_p.S141F|FUT8_ENST00000417683.1_Silent_p.I5I|FUT8_ENST00000394586.2_Missense_Mutation_p.S270F	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	270	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.S270F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACAGACAGATCTGGCATCTCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	14											142	126	131					14																	66136172		2203	4300	6503	65205925	SO:0001583	missense	2530			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.809C>T	14.37:g.66136172C>T	ENSP00000353910:p.Ser270Phe		65205925	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568524	0.65651	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.85	4.96	0.65561	.	0.220665	0.48767	D	0.000173	D	0.86159	0.5866	L	0.49350	1.555	0.54753	D	0.999985	P;B	0.41131	0.739;0.002	B;B	0.38562	0.276;0.004	D	0.86926	0.2070	10	0.72032	D	0.01	-4.4709	14.1048	0.65080	0.1516:0.8484:0.0:0.0	.	141;270	G3XAD2;Q9BYC5	.;FUT8_HUMAN	F	270;270;107;270;141	ENSP00000353910:S270F;ENSP00000378087:S270F;ENSP00000452433:S107F;ENSP00000378086:S270F;ENSP00000351057:S141F	ENSP00000345865:S270F	S	+	2	0	FUT8	65205925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.077000	0.71275	1.446000	0.47643	0.655000	0.94253	TCT		0.468	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		T	66136172	C	T	66136172	3	4	283	1	0	0	0	0	1	0	0	0	6110	913	32	2	926	2	FUT8	14	66136172	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	30643989	66136172	41213368	40	15643											
PLA2G4F	255189	broad.mit.edu	37	15	42442884	42442884	+	Silent	SNP	G	G	C			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr15:42442884G>C	ENST00000382396.4	-	8	779	c.693C>G	c.(691-693)ccC>ccG	p.P231P	PLA2G4F_ENST00000397272.3_Silent_p.P231P			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	231					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.P231P(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTAAAGGTGGGTGGGAGGC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	15											55	52	53					15																	42442884		2203	4299	6502	40230176	SO:0001819	synonymous_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.693C>G	15.37:g.42442884G>C			40230176	Q6ZMC8	Silent	SNP	ENST00000382396.4	37	CCDS32204.1																																																																																				0.637	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		C	42442884	G	C	42442884	2	2	283	1	0	0	0	0	0	0	0	1	12006	1335	47	3		3	PLA2G4F	15	42442884	Silent	SNP	G	TCGA-24-2298-01A-01W-0799-08		42442884	60088508	41	15644											
MYH13	8735	broad.mit.edu	37	17	10223673	10223673	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr17:10223673C>A	ENST00000418404.3	-	24	3415	c.3252G>T	c.(3250-3252)ttG>ttT	p.L1084F	RP11-401O9.4_ENST00000609088.1_RNA|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.L1084F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1084					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1084F(3)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTACTTTTTCAATTTCTCTT	0.383																																																3	Substitution - Missense(3)	endometrium(2)|ovary(1)	17											77	74	75					17																	10223673		1854	4090	5944	10164398	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3252G>T	17.37:g.10223673C>A	ENSP00000404570:p.Leu1084Phe		10164398	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	7.544	0.661317	0.14645	.	.	ENSG00000006788	ENST00000252172	D	0.81499	-1.5	3.68	1.66	0.24008	Myosin tail (1);	.	.	.	.	T	0.82181	0.4981	M	0.91768	3.24	0.39889	D	0.973741	B	0.12630	0.006	B	0.25614	0.062	T	0.78339	-0.2242	9	0.72032	D	0.01	.	6.289	0.21049	0.1475:0.671:0.0:0.1815	.	1084	Q9UKX3	MYH13_HUMAN	F	1084	ENSP00000252172:L1084F	ENSP00000252172:L1084F	L	-	3	2	MYH13	10164398	0.002000	0.14202	0.915000	0.36163	0.456000	0.32438	-1.307000	0.02733	0.333000	0.23563	-0.868000	0.02995	TTG		0.383	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10223673	C	A	10223673	3	1	283	1	0	0	0	0	1	0	0	0	10032	825	29	3	2632	3	MYH13	17	10223673	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08		10223673	70971537	42	15645											
BLMH	642	broad.mit.edu	37	17	28612458	28612458	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr17:28612458C>G	ENST00000261714.6	-	6	767	c.593G>C	c.(592-594)aGt>aCt	p.S198T	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Missense_Mutation_p.S111T|RNU6-1267P_ENST00000410747.1_RNA	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	198					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.S198T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GGTTGCTCCACTGTGTACCAG	0.423																																					Pancreas(127;628 1772 12912 33293 36203)											1	Substitution - Missense(1)	ovary(1)	17											155	140	145					17																	28612458		2203	4300	6503	25636584	SO:0001583	missense	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.593G>C	17.37:g.28612458C>G	ENSP00000261714:p.Ser198Thr		25636584	B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789982	0.50102	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.42900	0.96;0.96	5.83	5.83	0.93111	.	0.072064	0.85682	D	0.000000	T	0.33904	0.0879	L	0.41236	1.265	0.38623	D	0.95119	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14144	-1.0483	10	0.35671	T	0.21	-17.9855	11.2832	0.49208	0.1404:0.724:0.1356:0.0	.	111;198	E7EMN3;Q13867	.;BLMH_HUMAN	T	198;111	ENSP00000261714:S198T;ENSP00000378296:S111T	ENSP00000261714:S198T	S	-	2	0	BLMH	25636584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.591000	0.46163	2.775000	0.95449	0.650000	0.86243	AGT		0.423	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		G	28612458	C	G	28612458	3	3	283	1	0	0	0	0	1	0	0	0	1446	565	20	3	802	3	BLMH	17	28612458	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	18388785	28612458	52582752	43	15646											
FNDC8	54752	broad.mit.edu	37	17	33448915	33448915	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr17:33448915A>T	ENST00000158009.5	+	1	318	c.203A>T	c.(202-204)aAc>aTc	p.N68I	RAD51D_ENST00000357906.3_5'Flank|RAD51L3-RFFL_ENST00000593039.1_5'Flank|RAD51D_ENST00000345365.6_5'Flank|RAD51D_ENST00000360276.3_5'Flank|RAD51D_ENST00000394589.4_5'Flank|RAD51D_ENST00000460118.2_5'Flank|RAD51D_ENST00000590380.1_5'Flank|RAD51D_ENST00000335858.7_5'Flank|RAD51D_ENST00000590016.1_5'Flank	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	68						nucleus (GO:0005634)		p.N68I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GATACCATCAACCTACTGTAA	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											92	85	88					17																	33448915		2203	4300	6503	30473028	SO:0001583	missense	54752			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"Fibronectin type III domain containing"	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.203A>T	17.37:g.33448915A>T	ENSP00000158009:p.Asn68Ile		30473028	B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	37	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.578193	0.28180	.	.	ENSG00000073598	ENST00000158009	T	0.34275	1.37	4.68	1.21	0.21127	.	0.508491	0.18377	N	0.143072	T	0.17789	0.0427	N	0.19112	0.55	0.09310	N	1	P	0.35982	0.531	B	0.30646	0.118	T	0.13361	-1.0512	10	0.87932	D	0	-0.3621	3.9761	0.09475	0.6268:0.1816:0.1916:0.0	.	68	Q8TC99	FNDC8_HUMAN	I	68	ENSP00000158009:N68I	ENSP00000158009:N68I	N	+	2	0	FNDC8	30473028	0.000000	0.05858	0.001000	0.08648	0.157000	0.22087	0.061000	0.14366	0.066000	0.16515	0.454000	0.30748	AAC		0.498	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		T	33448915	A	T	33448915	3	4	283	1	0	0	0	0	1	0	0	0	5974	43	2	5	205	5	FNDC8	17	33448915	Missense_Mutation	SNP	A	TCGA-24-2298-01A-01W-0799-08	4836457	33448915	47746295	44	15647											
DNAH17	8632	broad.mit.edu	37	17	76523069	76523069	+	Missense_Mutation	SNP	C	C	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr17:76523069C>G	ENST00000585328.1	-	23	3632	c.3508G>C	c.(3508-3510)Gag>Cag	p.E1170Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.E1173Q	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1173	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1170Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCAGTGCTCCGGCAGCTCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	17											26	26	26					17																	76523069		2016	4154	6170	74034664	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3508G>C	17.37:g.76523069C>G	ENSP00000465516:p.Glu1170Gln		74034664	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	16.80	3.223541	0.58668	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.24723	1.84	4.45	4.45	0.53987	.	.	.	.	.	T	0.53158	0.1779	M	0.86502	2.82	0.46954	D	0.999269	.	.	.	.	.	.	T	0.58836	-0.7566	7	0.38643	T	0.18	.	17.2758	0.87114	0.0:1.0:0.0:0.0	.	.	.	.	Q	1170;1173	ENSP00000374490:E1173Q	ENSP00000300671:E1170Q	E	-	1	0	DNAH17	74034664	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.629000	0.67798	2.311000	0.77944	0.561000	0.74099	GAG		0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		G	76523069	C	G	76523069	3	3	283	1	0	0	0	0	1	0	0	0	4601	864	30	3	10107	3	DNAH17	17	76523069	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08	43074154	76523069	4672141	45	15648											
USP36	57602	broad.mit.edu	37	17	76799703	76799703	+	Silent	SNP	G	G	A	rs201663556		TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr17:76799703G>A	ENST00000542802.3	-	16	3017	c.2574C>T	c.(2572-2574)agC>agT	p.S858S	USP36_ENST00000312010.6_Silent_p.S858S|USP36_ENST00000449938.2_Silent_p.S463S			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	858					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.S858S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCTGCAGGGCGCTGGCAGCTG	0.662																																																1	Substitution - coding silent(1)	ovary(1)	17						G		0,4406		0,0,2203	36	33	34		2574	-3.1	0	17		34	1,8599		0,1,4299	no	coding-synonymous	USP36	NM_025090.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		858/1124	76799703	1,13005	2203	4300	6503	74311298	SO:0001819	synonymous_variant	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2574C>T	17.37:g.76799703G>A			74311298	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	CCDS32755.1																																																																																				0.662	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		A	76799703	G	A	76799703	2	1	283	1	0	0	0	0	0	0	0	1	17067	1078	38	1		1	USP36	17	76799703	Silent	SNP	G	TCGA-24-2298-01A-01W-0799-08	276634	76799703	4395507	46	15649											
CPLX4	339302	broad.mit.edu	37	18	56980001	56980001	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr18:56980001C>A	ENST00000299721.3	-	2	357	c.171G>T	c.(169-171)atG>atT	p.M57I	CPLX4_ENST00000587244.1_Missense_Mutation_p.M57I	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	57					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.M57I(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CATCTCTTTCCATCCTAAAAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	18											80	74	76					18																	56980001		2203	4300	6503	55130981	SO:0001583	missense	339302			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.171G>T	18.37:g.56980001C>A	ENSP00000299721:p.Met57Ile		55130981	F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385508	0.42308	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.1	4.19	0.49359	.	0.035664	0.85682	N	0.000000	T	0.54208	0.1844	L	0.52905	1.665	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48864	-0.8997	9	0.16420	T	0.52	-16.451	12.7179	0.57125	0.0:0.9157:0.0:0.0843	.	57	Q7Z7G2	CPLX4_HUMAN	I	57	.	ENSP00000299721:M57I	M	-	3	0	CPLX4	55130981	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.567000	0.53813	1.202000	0.43218	0.563000	0.77884	ATG		0.453	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		A	56980001	C	A	56980001	3	1	283	1	0	0	0	0	1	0	0	0	3807	594	21	3	319	3	CPLX4	18	56980001	Missense_Mutation	SNP	C	TCGA-24-2298-01A-01W-0799-08		56980001	21097247	47	15650											
KIAA1683	80726	broad.mit.edu	37	19	18377290	18377290	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr19:18377290A>G	ENST00000600328.3	-	3	1253	c.1060T>C	c.(1060-1062)Tat>Cat	p.Y354H	KIAA1683_ENST00000392413.4_Missense_Mutation_p.Y354H|KIAA1683_ENST00000600359.3_Missense_Mutation_p.Y308H			Q9H0B3	K1683_HUMAN	KIAA1683	354	Thr-rich.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.Y354H(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GACGCTGGATATGTCTGTGGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											85	76	79					19																	18377290		2203	4300	6503	18238290	SO:0001583	missense	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1060T>C	19.37:g.18377290A>G	ENSP00000470780:p.Tyr354His		18238290	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	A	2.866	-0.235018	0.05983	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.03635	3.93;3.94;3.86	3.45	-0.336	0.12658	.	1.914000	0.03454	N	0.211169	T	0.04770	0.0129	L	0.49126	1.545	0.09310	N	1	P;B	0.50943	0.94;0.028	B;B	0.41571	0.36;0.011	T	0.45804	-0.9236	10	0.20046	T	0.44	.	6.4595	0.21948	0.4936:0.0:0.5064:0.0	.	354;354	E9PDE0;Q9H0B3	.;K1683_HUMAN	H	354;354;308;353	ENSP00000376213:Y354H;ENSP00000352774:Y354H;ENSP00000404501:Y308H	ENSP00000351198:Y353H	Y	-	1	0	KIAA1683	18238290	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.416000	0.07097	0.009000	0.14813	-0.456000	0.05471	TAT		0.557	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			G	18377290	A	G	18377290	3	3	283	1	0	0	0	0	1	0	0	0	8251	449	16	4	3051	4	KIAA1683	19	18377290	Missense_Mutation	SNP	A	TCGA-24-2298-01A-01W-0799-08		18377290	40751693	48	15651											
PRKCG	5582	broad.mit.edu	37	19	54394975	54394975	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr19:54394975G>A	ENST00000263431.3	+	6	859	c.577G>A	c.(577-579)Gat>Aat	p.D193N	PRKCG_ENST00000540413.1_Missense_Mutation_p.D193N|PRKCG_ENST00000542049.1_Missense_Mutation_p.D80N|PRKCG_ENST00000536044.1_Missense_Mutation_p.D193N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	193	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.D193N(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TGGTCTCTCTGATCCCTATGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											148	133	138					19																	54394975		2203	4300	6503	59086787	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.577G>A	19.37:g.54394975G>A	ENSP00000263431:p.Asp193Asn		59086787	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149161	0.94645	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.74966	0.3786	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.988;0.996;0.99;0.98	D;P;D;P;D	0.87578	0.998;0.84;0.972;0.901;0.925	T	0.77879	-0.2423	9	0.59425	D	0.04	.	16.7114	0.85386	0.0:0.0:1.0:0.0	.	80;193;193;193;193	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	N	193;193;193;80	ENSP00000440541:D193N;ENSP00000443493:D193N;ENSP00000263431:D193N;ENSP00000438090:D80N	ENSP00000263431:D193N	D	+	1	0	PRKCG	59086787	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.141000	0.94612	2.628000	0.89032	0.561000	0.74099	GAT		0.537	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		A	54394975	G	A	54394975	3	1	283	1	0	0	0	0	1	0	0	0	12515	1290	45	2	599	2	PRKCG	19	54394975	Missense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08	36017685	54394975	4734008	49	15652											
CPXM1	56265	broad.mit.edu	37	20	2778886	2778886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr20:2778886G>A	ENST00000380605.2	-	4	566	c.502C>T	c.(502-504)Cag>Tag	p.Q168*		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	168	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q168*(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCGGCGTCCTGCTCCTCAGCA	0.607																																																1	Substitution - Nonsense(1)	ovary(1)	20											66	64	65					20																	2778886		2203	4300	6503	2726886	SO:0001587	stop_gained	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.502C>T	20.37:g.2778886G>A	ENSP00000369979:p.Gln168*		2726886	Q6P4G8|Q6UW65|Q9NUB5	Nonsense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138028	0.77775	.	.	ENSG00000088882	ENST00000380605	.	.	.	4.41	3.41	0.39046	.	0.294026	0.31922	N	0.006844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-10.1737	6.7184	0.23316	0.0:0.2059:0.6082:0.1859	.	.	.	.	X	168	.	ENSP00000369979:Q168X	Q	-	1	0	CPXM1	2726886	0.008000	0.16893	0.922000	0.36590	0.723000	0.41478	0.339000	0.19875	2.295000	0.77249	0.563000	0.77884	CAG		0.607	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		A	2778886	G	A	2778886	4	1	283	1	0	0	0	0	0	1	0	0	3837	1328	46	2	1746	2	CPXM1	20	2778886	Nonsense_Mutation	SNP	G	TCGA-24-2298-01A-01W-0799-08		2778886	60246634	50	15653											
TSHZ2	128553	broad.mit.edu	37	20	51872506	51872506	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2298-01A-01W-0799-08	TCGA-24-2298-11A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	8f0216c5-c956-4ae6-8af8-148e88dd7f6d	ba4d8afd-c737-4719-bdf5-5aebe1d0a285	g.chr20:51872506A>G	ENST00000371497.5	+	2	3396	c.2509A>G	c.(2509-2511)Act>Gct	p.T837A	TSHZ2_ENST00000603338.2_Missense_Mutation_p.T834A|TSHZ2_ENST00000329613.6_Missense_Mutation_p.T834A|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	837					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T837A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGAAGTCTCAACTTTGCATAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	20											54	56	55					20																	51872506		2203	4300	6503	51305913	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2509A>G	20.37:g.51872506A>G	ENSP00000360552:p.Thr837Ala		51305913	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.246700	0.22796	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.13538	2.58;2.58	5.52	5.52	0.82312	Homeodomain-like (1);	0.109197	0.64402	D	0.000006	T	0.09069	0.0224	N	0.08118	0	0.50313	D	0.999867	B	0.21753	0.06	B	0.17098	0.017	T	0.16808	-1.0390	10	0.62326	D	0.03	-2.8981	15.657	0.77144	1.0:0.0:0.0:0.0	.	837	Q9NRE2	TSH2_HUMAN	A	837;834;363	ENSP00000360552:T837A;ENSP00000333114:T834A	ENSP00000333114:T834A	T	+	1	0	TSHZ2	51305913	1.000000	0.71417	0.084000	0.20598	0.805000	0.45488	4.452000	0.60054	2.096000	0.63516	0.523000	0.50628	ACT		0.537	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		G	51872506	A	G	51872506	3	3	283	1	0	0	0	0	1	0	0	0	16624	43	2	4	2515	4	TSHZ2	20	51872506	Missense_Mutation	SNP	A	TCGA-24-2298-01A-01W-0799-08	49093620	51872506	11153014	51	15654											
C1orf201	90529	broad.mit.edu	37	1	24700197	24700197	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:24700197G>A	ENST00000374409.1	-	6	820	c.566C>T	c.(565-567)cCc>cTc	p.P189L	STPG1_ENST00000337248.4_Missense_Mutation_p.P189L|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.P142L|STPG1_ENST00000440416.1_Missense_Mutation_p.P142L	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	189					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P142L(1)									CTTACCTGGGGGAGGTCCTTT	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											209	220	216					1																	24700197		2203	4300	6503	24572784	SO:0001583	missense	90529			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.566C>T	1.37:g.24700197G>A	ENSP00000363530:p.Pro189Leu		24572784	Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725942	0.89298	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986;ENST00000438866;ENST00000374404	.	.	.	5.81	5.81	0.92471	.	0.345554	0.26935	N	0.021756	T	0.50990	0.1648	L	0.34521	1.04	0.35279	D	0.781202	P;B;B	0.43542	0.81;0.193;0.328	P;B;B	0.46659	0.523;0.081;0.079	T	0.62383	-0.6866	9	0.54805	T	0.06	-35.8759	15.5783	0.76410	0.0:0.0:1.0:0.0	.	156;189;142	B4DRS3;Q5TH74;Q5TH74-3	.;CA201_HUMAN;.	L	189;142;142;189;156;92;93	.	ENSP00000003583:P142L	P	-	2	0	C1orf201	24572784	0.835000	0.29415	0.975000	0.42487	0.909000	0.53808	4.891000	0.63185	2.746000	0.94184	0.655000	0.94253	CCC		0.488	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		A	24700197	G	A	24700197	3	1	284	1	0	0	0	0	1	0	0	0	2027	1232	43	2	454	2	C1orf201	1	24700197	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08		24700197	224550424	1	15655											
SLC1A7	6512	broad.mit.edu	37	1	53555486	53555486	+	Silent	SNP	G	G	C	rs374989145		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:53555486G>C	ENST00000371494.4	-	9	1474	c.1347C>G	c.(1345-1347)gcC>gcG	p.A449A	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	449				A -> G (in Ref. 1; AAB53971). {ECO:0000305}.	dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.A449A(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CCCAGTCAACGGCAATGATGA	0.627																																					NSCLC(128;80 1811 21245 38490 51715)											1	Substitution - coding silent(1)	ovary(1)	1											102	91	95					1																	53555486		2203	4300	6503	53328074	SO:0001819	synonymous_variant	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1347C>G	1.37:g.53555486G>C			53328074	Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	CCDS574.1																																																																																				0.627	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		C	53555486	G	C	53555486	2	2	284	1	0	0	0	0	0	0	0	1	14440	1103	39	3		3	SLC1A7	1	53555486	Silent	SNP	G	TCGA-25-1313-01A-01W-0492-08	28855289	53555486	195695135	2	15656											
S1PR1	1901	broad.mit.edu	37	1	101704672	101704672	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:101704672C>A	ENST00000305352.6	+	2	507	c.132C>A	c.(130-132)agC>agA	p.S44R	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	44					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.S44R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						AGGAGAACAGCATTAAACTGA	0.473											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											134	128	130					1																	101704672		2203	4300	6503	101477260	SO:0001583	missense	1901			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.132C>A	1.37:g.101704672C>A	ENSP00000305416:p.Ser44Arg	1360	101477260	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	3.417	-0.119065	0.06838	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.37411	1.2	5.83	2.76	0.32466	.	1.192390	0.05764	N	0.605404	T	0.08626	0.0214	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33343	-0.9872	10	0.72032	D	0.01	.	2.8817	0.05649	0.1398:0.3626:0.3467:0.1509	.	44	P21453	S1PR1_HUMAN	R	44	ENSP00000305416:S44R	ENSP00000305416:S44R	S	+	3	2	S1PR1	101477260	0.988000	0.35896	0.032000	0.17829	0.014000	0.08584	0.344000	0.19962	0.781000	0.33589	0.650000	0.86243	AGC		0.473	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		A	101704672	C	A	101704672	3	1	284	1	0	0	0	0	1	0	0	0	13796	709	25	3	134	3	S1PR1	1	101704672	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	48149186	101704672	147545949	3	15657											
ADAM30	11085	broad.mit.edu	37	1	120437650	120437650	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:120437650G>C	ENST00000369400.1	-	1	1468	c.1310C>G	c.(1309-1311)gCc>gGc	p.A437G		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	437	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A437G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCTACAGTTGGCACCTGGTTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											183	163	170					1																	120437650		2203	4300	6503	120239173	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1310C>G	1.37:g.120437650G>C	ENSP00000358407:p.Ala437Gly		120239173	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122753	0.56613	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.14022	2.54	4.97	2.09	0.27110	Blood coagulation inhibitor, Disintegrin (5);	0.145674	0.31221	N	0.008037	T	0.17492	0.0420	M	0.88570	2.965	0.09310	N	1	P	0.45902	0.868	P	0.55087	0.768	T	0.05533	-1.0879	10	0.54805	T	0.06	.	6.491	0.22115	0.3028:0.0:0.6972:0.0	.	437	Q9UKF2	ADA30_HUMAN	G	437	ENSP00000358407:A437G	ENSP00000358407:A437G	A	-	2	0	ADAM30	120239173	0.004000	0.15560	0.108000	0.21378	0.279000	0.26890	1.331000	0.33793	0.284000	0.22305	0.563000	0.77884	GCC		0.458	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		C	120437650	G	C	120437650	3	2	284	1	0	0	0	0	1	0	0	0	248	1203	42	3	1066	3	ADAM30	1	120437650	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	18732978	120437650	128812971	4	15658											
FLG2	388698	broad.mit.edu	37	1	152323676	152323676	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:152323676G>T	ENST00000388718.5	-	3	6658	c.6586C>A	c.(6586-6588)Cat>Aat	p.H2196N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2196					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H2196N(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAATGTGTGGGTGAG	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											396	338	358					1																	152323676		2203	4300	6503	150590300	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6586C>A	1.37:g.152323676G>T	ENSP00000373370:p.His2196Asn		150590300	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435707	0.25813	.	.	ENSG00000143520	ENST00000388718	T	0.38077	1.16	4.17	3.26	0.37387	.	.	.	.	.	T	0.37019	0.0988	M	0.79258	2.445	0.09310	N	1	D	0.58620	0.983	P	0.62885	0.908	T	0.19321	-1.0309	9	0.16420	T	0.52	0.2389	9.7044	0.40207	0.0:0.0:0.7925:0.2075	.	2196	Q5D862	FILA2_HUMAN	N	2196	ENSP00000373370:H2196N	ENSP00000373370:H2196N	H	-	1	0	FLG2	150590300	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	0.519000	0.22862	1.154000	0.42482	-0.233000	0.12211	CAT		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152323676	G	T	152323676	3	4	284	1	0	0	0	0	1	0	0	0	5923	1377	48	3	593	3	FLG2	1	152323676	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	31886026	152323676	96926945	5	15659											
FAM189B	10712	broad.mit.edu	37	1	155218027	155218027	+	Silent	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:155218027C>G	ENST00000361361.2	-	11	2156	c.1647G>C	c.(1645-1647)cgG>cgC	p.R549R	FAM189B_ENST00000368368.3_Silent_p.R531R|FAM189B_ENST00000350210.2_Silent_p.R453R|FAM189B_ENST00000472550.1_5'Flank	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	549			R -> H (in dbSNP:rs2072648).			integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.R549R(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTCGGCTGACCGGGCACGTA	0.632																																																1	Substitution - coding silent(1)	ovary(1)	1											20	27	24					1																	155218027		2202	4299	6501	153484651	SO:0001819	synonymous_variant	10712			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1647G>C	1.37:g.155218027C>G			153484651	B1AVS5|Q8IXL3|Q9BR66	Silent	SNP	ENST00000361361.2	37	CCDS1103.1																																																																																				0.632	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		G	155218027	C	G	155218027	2	3	284	1	0	0	0	0	0	0	0	1	5517	494	18	3		3	FAM189B	1	155218027	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	2894351	155218027	94032594	6	15660											
GON4L	54856	broad.mit.edu	37	1	155735555	155735555	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:155735555C>T	ENST00000368331.1	-	21	3757	c.3709G>A	c.(3709-3711)Gat>Aat	p.D1237N	GON4L_ENST00000437809.1_Missense_Mutation_p.D1237N|GON4L_ENST00000361040.5_Missense_Mutation_p.D1237N|GON4L_ENST00000271883.5_Missense_Mutation_p.D1237N|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1237					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D1237N(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTTCCCCATCAGCCACAGCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											78	81	80					1																	155735555		2203	4300	6503	154002179	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3709G>A	1.37:g.155735555C>T	ENSP00000357315:p.Asp1237Asn		154002179	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	5.907	0.351433	0.11182	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.11712	2.96;2.96;2.96;2.75	5.08	3.21	0.36854	.	0.421576	0.24518	N	0.037822	T	0.01835	0.0058	N	0.08118	0	0.09310	N	0.999998	B;B;B;B	0.11235	0.002;0.002;0.002;0.004	B;B;B;B	0.13407	0.005;0.008;0.004;0.009	T	0.45512	-0.9256	10	0.30078	T	0.28	.	12.4182	0.55506	0.0:0.843:0.0:0.157	.	1237;433;1237;1237	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	N	1237	ENSP00000396117:D1237N;ENSP00000357315:D1237N;ENSP00000271883:D1237N;ENSP00000354322:D1237N	ENSP00000271883:D1237N	D	-	1	0	GON4L	154002179	0.807000	0.29009	0.807000	0.32361	0.075000	0.17131	1.422000	0.34826	0.729000	0.32403	-0.911000	0.02809	GAT		0.488	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		T	155735555	C	T	155735555	3	4	284	1	0	0	0	0	1	0	0	0	6572	826	29	2	3178	2	GON4L	1	155735555	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	517528	155735555	93515066	7	15661											
NTRK1	4914	broad.mit.edu	37	1	156849053	156849053	+	Missense_Mutation	SNP	C	C	T	rs369353892		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:156849053C>T	ENST00000524377.1	+	15	1986	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	NTRK1_ENST00000368196.3_Missense_Mutation_p.R643W|NTRK1_ENST00000392302.2_Missense_Mutation_p.R613W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R646W	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in CIPA; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells). {ECO:0000269|PubMed:10330344}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R649W(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TTTTGTGCACCGGGACCTGGC	0.617			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	1	Substitution - Missense(1)	ovary(1)	1	GRCh37	CM990979	NTRK1	M		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	62	56	58		1837,1927,1945	3.4	1	1		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	613/761,643/791,649/797	156849053	1,13005	2203	4300	6503	155115677	SO:0001583	missense	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1945C>T	1.37:g.156849053C>T	ENSP00000431418:p.Arg649Trp		155115677	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387622	0.61956	0.0	1.16E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.37	3.44	0.39384	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.138776	0.32868	N	0.005546	D	0.95984	0.8692	H	0.98682	4.3	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.996;1.0;0.996	D	0.96894	0.9655	10	0.87932	D	0	.	12.7478	0.57291	0.1657:0.8343:0.0:0.0	.	646;643;649;613	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	W	613;643;649;646	ENSP00000376120:R613W;ENSP00000357179:R643W;ENSP00000431418:R649W;ENSP00000351486:R646W	ENSP00000351486:R646W	R	+	1	2	NTRK1	155115677	0.983000	0.35010	1.000000	0.80357	0.923000	0.55619	0.965000	0.29319	1.182000	0.42928	-0.310000	0.09108	CGG		0.617	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		T	156849053	C	T	156849053	3	4	284	1	0	0	0	0	1	0	0	0	10706	643	23	1	2133	1	NTRK1	1	156849053	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	1113498	156849053	92401568	8	15662											
NUAK2	81788	broad.mit.edu	37	1	205273343	205273343	+	Silent	SNP	G	G	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:205273343G>C	ENST00000367157.3	-	7	1248	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.L374L(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGGACTTCTTGAGCGAATGCT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	1											76	71	73					1																	205273343		2203	4300	6503	203539966	SO:0001819	synonymous_variant	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1122C>G	1.37:g.205273343G>C			203539966		Silent	SNP	ENST00000367157.3	37	CCDS1453.1																																																																																				0.612	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		C	205273343	G	C	205273343	2	2	284	1	0	0	0	0	0	0	0	1	10713	1277	45	3		3	NUAK2	1	205273343	Silent	SNP	G	TCGA-25-1313-01A-01W-0492-08	48424290	205273343	43977278	9	15663											
MIA3	375056	broad.mit.edu	37	1	222838886	222838886	+	Silent	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:222838886C>T	ENST00000344922.5	+	28	5674	c.5649C>T	c.(5647-5649)ggC>ggT	p.G1883G	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.G1883G|AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000340535.7_Silent_p.G761G	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1883	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G1883G(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGCCGTCAGGCTCTAGAGATG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	1											132	135	134					1																	222838886		1871	4118	5989	220905509	SO:0001819	synonymous_variant	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5649C>T	1.37:g.222838886C>T			220905509	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	CCDS41470.1																																																																																				0.512	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		T	222838886	C	T	222838886	2	4	284	1	0	0	0	0	0	0	0	1	9565	784	28	2		2	MIA3	1	222838886	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	17565543	222838886	26411735	10	15664											
URB2	9816	broad.mit.edu	37	1	229773223	229773223	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:229773223G>A	ENST00000258243.2	+	4	2999	c.2863G>A	c.(2863-2865)Ggg>Agg	p.G955R		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	955						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G955R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTTGCAAAAGGGGAAAAGTGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											290	278	282					1																	229773223		2203	4300	6503	227839846	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2863G>A	1.37:g.229773223G>A	ENSP00000258243:p.Gly955Arg		227839846	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654148	0.47362	.	.	ENSG00000135763	ENST00000258243	T	0.41400	1.0	5.54	5.54	0.83059	.	0.105088	0.64402	D	0.000004	T	0.51346	0.1669	L	0.34521	1.04	0.54753	D	0.999987	D	0.76494	0.999	D	0.70716	0.97	T	0.38520	-0.9657	9	.	.	.	-27.2423	14.0975	0.65032	0.0723:0.0:0.9277:0.0	.	955	Q14146	URB2_HUMAN	R	955	ENSP00000258243:G955R	.	G	+	1	0	URB2	227839846	1.000000	0.71417	0.254000	0.24359	0.044000	0.14063	4.857000	0.62939	2.785000	0.95823	0.585000	0.79938	GGG		0.448	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		A	229773223	G	A	229773223	3	1	284	1	0	0	0	0	1	0	0	0	17025	1232	43	2	2873	2	URB2	1	229773223	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	6934337	229773223	19477398	11	15665											
LYST	1130	broad.mit.edu	37	1	235972337	235972337	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:235972337G>T	ENST00000389794.3	-	5	1955	c.1781C>A	c.(1780-1782)cCt>cAt	p.P594H	LYST_ENST00000389793.2_Missense_Mutation_p.P594H|LYST_ENST00000536965.1_Missense_Mutation_p.P594H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	594					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.P594H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGGAGCAAAGGAATGATTAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											115	113	114					1																	235972337		2203	4300	6503	234038960	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1781C>A	1.37:g.235972337G>T	ENSP00000374444:p.Pro594His		234038960	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883727	0.72410	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.67865	-0.29;-0.29;0.87	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.81254	0.4784	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82287	-0.0532	10	0.87932	D	0	.	19.6104	0.95604	0.0:0.0:1.0:0.0	.	594;594	Q99698-3;Q99698	.;LYST_HUMAN	H	594	ENSP00000374444:P594H;ENSP00000374443:P594H;ENSP00000438315:P594H	ENSP00000374443:P594H	P	-	2	0	LYST	234038960	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.230000	0.95299	2.634000	0.89283	0.650000	0.86243	CCT		0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235972337	G	T	235972337	3	4	284	1	0	0	0	0	1	0	0	0	9128	1000	35	3	9820	3	LYST	1	235972337	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	6199114	235972337	13278284	12	15666											
PLD5	200150	broad.mit.edu	37	1	242264042	242264042	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:242264042C>G	ENST00000536534.2	-	9	1523	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	PLD5_ENST00000427495.1_Missense_Mutation_p.E366Q|PLD5_ENST00000442594.2_Missense_Mutation_p.E336Q			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	428						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.E336Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTCTTTTGTTCTTTTGTAGCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											210	183	192					1																	242264042		2203	4300	6503	240330665	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1282G>C	1.37:g.242264042C>G	ENSP00000440896:p.Glu428Gln		240330665	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315509	0.60524	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.46451	0.89;0.89;0.87	5.75	5.75	0.90469	.	0.170741	0.50627	D	0.000108	T	0.38108	0.1028	L	0.39085	1.19	0.48135	D	0.999591	D;P;D	0.53151	0.958;0.93;0.958	P;B;B	0.44897	0.463;0.342;0.369	T	0.05920	-1.0856	10	0.17369	T	0.5	-16.9875	17.7292	0.88373	0.0:1.0:0.0:0.0	.	336;428;366	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	Q	366;336;428	ENSP00000401285:E366Q;ENSP00000414188:E336Q;ENSP00000440896:E428Q	ENSP00000401285:E366Q	E	-	1	0	PLD5	240330665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.073000	0.71245	2.723000	0.93209	0.650000	0.86243	GAA		0.403	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		G	242264042	C	G	242264042	3	3	284	1	0	0	0	0	1	0	0	0	12049	922	32	3	336	3	PLD5	1	242264042	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	6291705	242264042	6986579	13	15667											
OR2T12	127064	broad.mit.edu	37	1	248458438	248458438	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr1:248458438A>T	ENST00000317996.1	-	1	442	c.443T>A	c.(442-444)cTc>cAc	p.L148H		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L148H(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGCACCCAGGAGCCAGGACGA	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											59	67	64					1																	248458438		2176	4297	6473	246525061	SO:0001583	missense	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.443T>A	1.37:g.248458438A>T	ENSP00000324583:p.Leu148His		246525061		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	12.87	2.068665	0.36470	.	.	ENSG00000177201	ENST00000317996	T	0.45276	0.9	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.729752	0.11158	U	0.593361	T	0.68016	0.2955	M	0.93241	3.395	0.24682	N	0.993354	D	0.71674	0.998	D	0.70016	0.967	T	0.53940	-0.8367	10	0.87932	D	0	.	6.3786	0.21521	0.6446:0.3553:0.0:0.0	.	148	Q8NG77	O2T12_HUMAN	H	148	ENSP00000324583:L148H	ENSP00000324583:L148H	L	-	2	0	OR2T12	246525061	0.000000	0.05858	0.077000	0.20336	0.209000	0.24338	0.557000	0.23454	0.540000	0.28808	0.147000	0.16070	CTC		0.612	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		T	248458438	A	T	248458438	3	4	284	1	0	0	0	0	1	0	0	0	11019	304	11	5	522	5	OR2T12	1	248458438	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08	6194396	248458438	792183	14	15668											
VSNL1	7447	broad.mit.edu	37	2	17773383	17773383	+	Missense_Mutation	SNP	G	G	T	rs201755586		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr2:17773383G>T	ENST00000406397.1	+	2	567	c.42G>T	c.(40-42)gaG>gaT	p.E14D	VSNL1_ENST00000295156.4_Missense_Mutation_p.E14D|VSNL1_ENST00000404666.2_Missense_Mutation_p.E14D			P62760	VISL1_HUMAN	visinin-like 1	14					calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.E14D(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGTGATGGAGGACCTGGTGA	0.453																																																1	Substitution - Missense(1)	ovary(1)	2											147	143	145					2																	17773383		2203	4300	6503	17636864	SO:0001583	missense	7447				CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"EF-hand domain containing"	12722	protein-coding gene	gene with protein product	"hippocalcin-like protein 3"	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.42G>T	2.37:g.17773383G>T	ENSP00000384719:p.Glu14Asp		17636864	D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	ENST00000406397.1	37	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	G	9.015	0.983374	0.18889	.	.	ENSG00000163032	ENST00000404666;ENST00000457525;ENST00000295156;ENST00000451533;ENST00000406397	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.44	3.66	0.41972	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.16128	0.0388	N	0.21194	0.64	0.53688	D	0.99997	B	0.02656	0.0	B	0.01281	0.0	T	0.06023	-1.0850	10	0.25106	T	0.35	.	10.4937	0.44764	0.2184:0.0:0.7816:0.0	.	14	P62760	VISL1_HUMAN	D	14	ENSP00000384014:E14D;ENSP00000405511:E14D;ENSP00000295156:E14D;ENSP00000390124:E14D;ENSP00000384719:E14D	ENSP00000295156:E14D	E	+	3	2	VSNL1	17636864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.877000	0.48506	0.801000	0.34066	-0.145000	0.13849	GAG		0.453	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		T	17773383	G	T	17773383	3	4	284	1	0	0	0	0	1	0	0	0	17227	991	35	3	44	3	VSNL1	2	17773383	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08		17773383	225425990	15	15669											
LAPTM4A	9741	broad.mit.edu	37	2	20240751	20240751	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr2:20240751T>G	ENST00000175091.4	-	2	640	c.133A>C	c.(133-135)Att>Ctt	p.I45L		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	45					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.I45L(1)		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCAAAATTGCCATCAAT	0.403																																					Ovarian(90;1240 1386 7711 14384 46863)											1	Substitution - Missense(1)	ovary(1)	2											129	118	122					2																	20240751		2203	4300	6503	20104232	SO:0001583	missense	9741			D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"lysosomal-associated protein transmembrane 4 alpha"	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.133A>C	2.37:g.20240751T>G	ENSP00000175091:p.Ile45Leu		20104232	Q6UW22	Missense_Mutation	SNP	ENST00000175091.4	37	CCDS1696.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284743	0.23392	.	.	ENSG00000068697	ENST00000175091	T	0.55930	0.49	5.99	5.99	0.97316	.	0.064020	0.64402	D	0.000001	T	0.30916	0.0780	N	0.05230	-0.09	0.80722	D	1	B;B	0.13145	0.007;0.005	B;B	0.15484	0.007;0.013	T	0.21381	-1.0247	10	0.13108	T	0.6	-16.3786	14.2352	0.65922	0.0:0.0:0.0:1.0	.	45;45	B4E2U6;Q15012	.;LAP4A_HUMAN	L	45	ENSP00000175091:I45L	ENSP00000175091:I45L	I	-	1	0	LAPTM4A	20104232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.951000	0.70273	2.291000	0.77112	0.533000	0.62120	ATT		0.403	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1	NM_014713		G	20240751	T	G	20240751	3	3	284	1	0	0	0	0	1	0	0	0	8624	1493	52	5	592	5	LAPTM4A	2	20240751	Missense_Mutation	SNP	T	TCGA-25-1313-01A-01W-0492-08	2467368	20240751	222958622	16	15670											
DPYSL5	56896	broad.mit.edu	37	2	27150301	27150301	+	Splice_Site	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr2:27150301G>A	ENST00000288699.6	+	4	758		c.e4+1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.?(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGGCCGAGGCAAGTCTGCA	0.547																																																1	Unknown(1)	ovary(1)	2											59	51	54					2																	27150301		2203	4300	6503	27003805	SO:0001630	splice_region_variant	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.600+1G>A	2.37:g.27150301G>A			27003805	Q8TCL6|Q9NQC4|Q9NRY9	Splice_Site	SNP	ENST00000288699.6	37	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465185	0.84425	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.569	0.91128	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPYSL5	27003805	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.303000	0.96183	2.767000	0.95098	0.655000	0.94253	.		0.547	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134	Intron	A	27150301	G	A	27150301	5	1	284	1	0	0	0	0	0	0	1	0	4750	1217	42	2	611	2	DPYSL5	2	27150301	Splice_Site	SNP	G	TCGA-25-1313-01A-01W-0492-08	6909550	27150301	216049072	17	15671											
USP34	9736	broad.mit.edu	37	2	61538678	61538678	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr2:61538678G>A	ENST00000398571.2	-	27	3890	c.3814C>T	c.(3814-3816)Cct>Tct	p.P1272S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1272					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P1272S(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGCTTACCAGGAAACTCTCCT	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											64	63	63					2																	61538678		1814	4068	5882	61392182	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.3814C>T	2.37:g.61538678G>A	ENSP00000381577:p.Pro1272Ser		61392182	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295342	0.60086	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03689	3.84	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.02807	0.0084	N	0.08118	0	0.80722	D	1	P	0.47762	0.9	B	0.38264	0.269	T	0.63651	-0.6589	10	0.39692	T	0.17	.	18.9757	0.92735	0.0:0.0:1.0:0.0	.	1272	Q70CQ2	UBP34_HUMAN	S	1120;1120;1272	ENSP00000381577:P1272S	ENSP00000263989:P1120S	P	-	1	0	USP34	61392182	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.927000	0.87577	2.548000	0.85928	0.585000	0.79938	CCT		0.348	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61538678	G	A	61538678	3	1	284	1	0	0	0	0	1	0	0	0	17065	1174	41	2	7042	2	USP34	2	61538678	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	34388377	61538678	181660695	18	15672											
CSRNP3	80034	broad.mit.edu	37	2	166514412	166514412	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr2:166514412G>A	ENST00000342316.4	+	3	562	c.290G>A	c.(289-291)cGc>cAc	p.R97H	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R97H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	97					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.R97H(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ATGTCCAGCCGCCATAACAGC	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											55	48	50					2																	166514412		2203	4300	6503	166222658	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.290G>A	2.37:g.166514412G>A	ENSP00000344042:p.Arg97His		166222658	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276723	0.95459	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.16790	0.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08785	-1.0705	10	0.40728	T	0.16	-18.4594	19.2061	0.93730	0.0:0.0:1.0:0.0	.	97	Q8WYN3	CSRN3_HUMAN	H	97;104;97;97;97;129	ENSP00000412081:R97H;ENSP00000318258:R97H;ENSP00000386278:R97H;ENSP00000344042:R97H;ENSP00000387195:R129H	ENSP00000318258:R97H	R	+	2	0	CSRNP3	166222658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.620000	0.74224	2.604000	0.88044	0.563000	0.77884	CGC		0.547	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		A	166514412	G	A	166514412	3	1	284	1	0	0	0	0	1	0	0	0	3965	1087	38	1	296	1	CSRNP3	2	166514412	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	104975734	166514412	76684961	19	15673											
TTN	7273	broad.mit.edu	37	2	179612538	179612538	+	Intron	SNP	A	A	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr2:179612538A>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.V4863V|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V4863V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGAACTTGAACTTCTTCAT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	2											49	49	49					2																	179612538		2203	4299	6502	179320783	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5312T>A	2.37:g.179612538A>T			179320783	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179612538	A	T	179612538	1	4	284	0	1	0	0	0	0	0	0	0	16735	233	9	5		5	TTN	2	179612538	Intron	SNP	A	TCGA-25-1313-01A-01W-0492-08	13098126	179612538	63586835	20	15674											
NBEAL1	65065	broad.mit.edu	37	2	204000786	204000786	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr2:204000786G>C	ENST00000449802.1	+	27	4446	c.4113G>C	c.(4111-4113)ttG>ttC	p.L1371F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1371								p.L1371F(1)|p.L81F(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTCACATTTGAGTTTAGACC	0.423																																																2	Substitution - Missense(2)	ovary(2)	2											83	77	79					2																	204000786		1891	4121	6012	203709031	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4113G>C	2.37:g.204000786G>C	ENSP00000399903:p.Leu1371Phe		203709031	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401812	0.25291	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56776	0.44	5.47	3.65	0.41850	.	0.566697	0.19125	N	0.122080	T	0.46541	0.1398	L	0.58101	1.795	0.46356	D	0.999005	B;B	0.20052	0.041;0.041	B;B	0.20184	0.028;0.028	T	0.49093	-0.8975	10	0.62326	D	0.03	.	7.4157	0.27042	0.1364:0.2593:0.6043:0.0	.	1371;1360	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	F	1371	ENSP00000399903:L1371F	ENSP00000344985:L1371F	L	+	3	2	NBEAL1	203709031	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.542000	0.45744	1.326000	0.45319	-0.150000	0.13652	TTG		0.423	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			C	204000786	G	C	204000786	3	2	284	1	0	0	0	0	1	0	0	0	10188	1281	45	3	4215	3	NBEAL1	2	204000786	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	24388248	204000786	39198587	21	15675											
C2orf67	151050	broad.mit.edu	37	2	210893680	210893680	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr2:210893680C>T	ENST00000281772.9	-	11	2548	c.2285G>A	c.(2284-2286)cGg>cAg	p.R762Q	RP11-260M2.1_ENST00000608095.1_RNA|AC007038.7_ENST00000452057.1_RNA|KANSL1L_ENST00000418791.1_Missense_Mutation_p.R720Q	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	762						histone acetyltransferase complex (GO:0000123)		p.R762Q(1)									TCTCAATCTCCGTCGTGCAGT	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											125	118	120					2																	210893680		2203	4300	6503	210601925	SO:0001583	missense	151050			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2285G>A	2.37:g.210893680C>T	ENSP00000281772:p.Arg762Gln		210601925	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982744	0.93044	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000012	T	0.79040	0.4379	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.81306	-0.0992	9	0.72032	D	0.01	.	18.3132	0.90208	0.0:1.0:0.0:0.0	.	720;762	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	Q	762;720	.	ENSP00000281772:R762Q	R	-	2	0	C2orf67	210601925	1.000000	0.71417	0.978000	0.43139	0.916000	0.54674	6.283000	0.72646	2.422000	0.82143	0.563000	0.77884	CGG		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		T	210893680	C	T	210893680	3	4	284	1	0	0	0	0	1	0	0	0	2186	652	23	1	698	1	C2orf67	2	210893680	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	6892894	210893680	32305693	22	15676											
GRAMD1C	54762	broad.mit.edu	37	3	113634568	113634568	+	Missense_Mutation	SNP	C	C	G	rs199895173		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr3:113634568C>G	ENST00000358160.4	+	10	1465	c.973C>G	c.(973-975)Ctt>Gtt	p.L325V	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.L120V|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.L158V|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.L54V|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	325						integral component of membrane (GO:0016021)		p.L325V(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGAGAAAGATCTTCATGGAAG	0.358													C|||	1	0.000199681	0	0	5008	,	,		17107	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3											79	80	80					3																	113634568		2203	4296	6499	115117258	SO:0001583	missense	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.973C>G	3.37:g.113634568C>G	ENSP00000350881:p.Leu325Val		115117258	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	CCDS33826.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	15.45|15.45	2.837792|2.837792	0.50951|0.50951	.|.	.|.	ENSG00000178075|ENSG00000178075	ENST00000488680|ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	.|T;T;T;T	.|0.55930	.|1.05;0.55;0.49;0.49	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.199004	.|0.44483	.|D	.|0.000452	T|T	0.44829|0.44829	0.1312|0.1312	L|L	0.43152|0.43152	1.355|1.355	0.35050|0.35050	D|D	0.760565|0.760565	.|B;B	.|0.33857	.|0.062;0.429	.|B;B	.|0.27608	.|0.028;0.081	T|T	0.53265|0.53265	-0.8463|-0.8463	6|10	0.87932|0.27785	D|T	0|0.31	.|.	17.3601|17.3601	0.87347|0.87347	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|158;325	.|E9PHT3;Q8IYS0	.|.;GRM1C_HUMAN	M|V	24|325;54;158;120;120	.|ENSP00000350881:L325V;ENSP00000399844:L54V;ENSP00000419132:L158V;ENSP00000408135:L120V	ENSP00000419571:I24M|ENSP00000350881:L325V	I|L	+|+	3|1	3|0	GRAMD1C|GRAMD1C	115117258|115117258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.609000|4.609000	0.61148|0.61148	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	ATC|CTT		0.358	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		G	113634568	C	G	113634568	3	3	284	1	0	0	0	0	1	0	0	0	6749	913	32	3	1011	3	GRAMD1C	3	113634568	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08		113634568	84387862	23	15677											
ARHGAP31	57514	broad.mit.edu	37	3	119112360	119112360	+	Silent	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr3:119112360C>T	ENST00000264245.4	+	8	1460	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	310					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.L310L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AATATTTAACCTGGGACGTTC	0.408																																					Pancreas(7;176 297 5394 51128 51241)											1	Substitution - coding silent(1)	ovary(1)	3											129	120	123					3																	119112360		1842	4082	5924	120595050	SO:0001819	synonymous_variant	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.928C>T	3.37:g.119112360C>T			120595050	Q9ULL6	Silent	SNP	ENST00000264245.4	37	CCDS43135.1																																																																																				0.408	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			T	119112360	C	T	119112360	2	4	284	1	0	0	0	0	0	0	0	1	880	680	24	2		2	ARHGAP31	3	119112360	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	5477792	119112360	78910070	24	15678											
C3orf15	89876	broad.mit.edu	37	3	119434528	119434528	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr3:119434528C>T	ENST00000273390.5	+	6	697	c.620C>T	c.(619-621)gCa>gTa	p.A207V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A207V	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	207			A -> P (in dbSNP:rs6438544). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2}.			mitochondrion (GO:0005739)		p.A207V(1)									CCATACTCTGCAGAATATGTA	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											161	146	151					3																	119434528		2203	4300	6503	120917218	SO:0001583	missense	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.620C>T	3.37:g.119434528C>T	ENSP00000273390:p.Ala207Val		120917218	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.42|19.42	3.823895|3.823895	0.71143|0.71143	.|.	.|.	ENSG00000183833|ENSG00000183833	ENST00000273390;ENST00000463700|ENST00000383667	T;T|.	0.23950|.	1.88;1.88|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.111910|.	0.64402|.	D|.	0.000007|.	T|.	0.35970|.	0.0950|.	N|N	0.08118|0.08118	0|0	0.21878|0.21878	N|N	0.999495|0.999495	B;B;B;B|.	0.22211|.	0.021;0.06;0.066;0.009|.	B;B;B;B|.	0.25506|.	0.03;0.054;0.061;0.002|.	T|.	0.47018|.	-0.9149|.	10|.	0.87932|0.87932	D|D	0|0	-8.0965|-8.0965	18.5803|18.5803	0.91168|0.91168	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	207;145;207;207|.	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7;Q7Z4T9-2|.	AAT1_HUMAN;.;.;.|.	V|X	207|185	ENSP00000273390:A207V;ENSP00000419489:A207V|.	ENSP00000273390:A207V|ENSP00000373163:Q185X	A|Q	+|+	2|1	0|0	C3orf15|C3orf15	120917218|120917218	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	5.692000|5.692000	0.68256|0.68256	2.488000|2.488000	0.83962|0.83962	0.585000|0.585000	0.79938|0.79938	GCA|CAG		0.473	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		T	119434528	C	T	119434528	3	4	284	1	0	0	0	0	1	0	0	0	2209	710	25	2	642	2	C3orf15	3	119434528	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	322168	119434528	78587902	25	15679											
MCM2	4171	broad.mit.edu	37	3	127325076	127325076	+	Silent	SNP	C	C	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr3:127325076C>A	ENST00000265056.7	+	5	1033	c.789C>A	c.(787-789)gcC>gcA	p.A263A		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	263					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.A263A(1)		ovary(3)|skin(2)|stomach(1)	6						ATGAGGCTGCCCTGGAGGTGG	0.617																																																1	Substitution - coding silent(1)	ovary(1)	3											168	144	152					3																	127325076		2203	4300	6503	128807766	SO:0001819	synonymous_variant	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.789C>A	3.37:g.127325076C>A			128807766	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327465	0.24080	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.1	2.3	0.28687	.	.	.	.	.	T	0.57169	0.2035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48103	-0.9064	4	.	.	.	-34.8937	8.312	0.32077	0.0:0.7285:0.1286:0.143	.	.	.	.	H	126	.	.	P	+	2	0	MCM2	128807766	0.980000	0.34600	0.999000	0.59377	0.882000	0.50991	0.232000	0.17891	0.166000	0.19597	0.591000	0.81541	CCC		0.617	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			A	127325076	C	A	127325076	2	1	284	1	0	0	0	0	0	0	0	1	9386	610	22	3		3	MCM2	3	127325076	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	7890548	127325076	70697354	26	15680											
COL25A1	84570	broad.mit.edu	37	4	109784537	109784537	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr4:109784537G>A	ENST00000399132.1	-	21	1620	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	COL25A1_ENST00000399126.1_Missense_Mutation_p.R364W|COL25A1_ENST00000399127.1_Missense_Mutation_p.R360W	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.R364W(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCTTCCCCCCGTTCACCCTGT	0.502																																																1	Substitution - Missense(1)	ovary(1)	4											43	44	44					4																	109784537		1835	4088	5923	110003986	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1090C>T	4.37:g.109784537G>A	ENSP00000382083:p.Arg364Trp		110003986		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088045	0.55968	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;T;D	0.93604	-3.25;1.83;-3.25	5.52	5.52	0.82312	.	0.121454	0.50627	D	0.000106	D	0.97043	0.9034	M	0.88031	2.925	0.47123	D	0.999327	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.97311	0.9937	9	.	.	.	-7.1172	15.1785	0.72934	0.0:0.0:0.8503:0.1497	.	364;364	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	W	364;366;345;360;364;294	ENSP00000382083:R364W;ENSP00000382078:R360W;ENSP00000382077:R364W	.	R	-	1	2	COL25A1	110003986	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.784000	0.47774	2.578000	0.87016	0.650000	0.86243	CGG		0.502	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		A	109784537	G	A	109784537	3	1	284	1	0	0	0	0	1	0	0	0	3684	1144	40	1	1030	1	COL25A1	4	109784537	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08		109784537	81369739	27	15681											
ADAMTS12	81792	broad.mit.edu	37	5	33643573	33643573	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr5:33643573G>C	ENST00000504830.1	-	10	1817	c.1482C>G	c.(1480-1482)aaC>aaG	p.N494K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N494K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	494	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N494K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGCAGACGTTCTAGAAAA	0.443										HNSCC(64;0.19)																																						1	Substitution - Missense(1)	ovary(1)	5											111	114	113					5																	33643573		2203	4300	6503	33679330	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1482C>G	5.37:g.33643573G>C	ENSP00000422554:p.Asn494Lys		33679330	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354406	0.41700	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59083	0.29;0.31	5.57	-3.03	0.05429	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.48174	1.505	0.80722	D	1	D;P	0.89917	1.0;0.951	D;P	0.78314	0.991;0.686	T	0.61549	-0.7040	10	0.36615	T	0.2	.	13.4561	0.61199	0.5944:0.0:0.4056:0.0	.	494;494	P58397-3;P58397	.;ATS12_HUMAN	K	494	ENSP00000422554:N494K;ENSP00000344847:N494K	ENSP00000344847:N494K	N	-	3	2	ADAMTS12	33679330	0.431000	0.25546	0.986000	0.45419	0.295000	0.27426	0.035000	0.13797	-0.402000	0.07633	-1.214000	0.01621	AAC		0.443	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		C	33643573	G	C	33643573	3	2	284	1	0	0	0	0	1	0	0	0	257	1136	40	3	3362	3	ADAMTS12	5	33643573	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08		33643573	147271687	28	15682											
PCDHB2	56133	broad.mit.edu	37	5	140474407	140474407	+	Silent	SNP	G	G	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr5:140474407G>T	ENST00000194155.4	+	1	181	c.33G>T	c.(31-33)ccG>ccT	p.P11P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	11					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P11P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGCGTTCCGAAACAAAGGC	0.547																																																1	Substitution - coding silent(1)	ovary(1)	5											82	86	84					5																	140474407		2203	4300	6503	140454591	SO:0001819	synonymous_variant	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.33G>T	5.37:g.140474407G>T			140454591	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																				0.547	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		T	140474407	G	T	140474407	2	4	284	1	0	0	0	0	0	0	0	1	11542	1045	37	3		3	PCDHB2	5	140474407	Silent	SNP	G	TCGA-25-1313-01A-01W-0492-08	106830834	140474407	40440853	29	15683											
FAT2	2196	broad.mit.edu	37	5	150920314	150920314	+	Silent	SNP	G	G	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr5:150920314G>T	ENST00000261800.5	-	10	8865	c.8853C>A	c.(8851-8853)ccC>ccA	p.P2951P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2951	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2951P(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGGCCCAGGGGGTCTCCCT	0.517																																																1	Substitution - coding silent(1)	ovary(1)	5											54	50	51					5																	150920314		2203	4300	6503	150900507	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8853C>A	5.37:g.150920314G>T			150900507	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150920314	G	T	150920314	2	4	284	1	0	0	0	0	0	0	0	1	5690	1219	43	3		3	FAT2	5	150920314	Silent	SNP	G	TCGA-25-1313-01A-01W-0492-08	10445907	150920314	29994946	30	15684											
SH3PXD2B	285590	broad.mit.edu	37	5	171766097	171766097	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr5:171766097C>G	ENST00000311601.5	-	13	2182	c.2012G>C	c.(2011-2013)aGg>aCg	p.R671T	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	671					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.R671T(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTGGCAGGCCTGAGCTTACT	0.602																																																1	Substitution - Missense(1)	ovary(1)	5											92	86	88					5																	171766097		2203	4300	6503	171698702	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2012G>C	5.37:g.171766097C>G	ENSP00000309714:p.Arg671Thr		171698702	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631381	0.67015	.	.	ENSG00000174705	ENST00000311601	T	0.70045	-0.45	5.47	5.47	0.80525	.	0.153556	0.56097	D	0.000029	T	0.67795	0.2931	L	0.32530	0.975	0.47949	D	0.999552	D	0.69078	0.997	P	0.60789	0.879	T	0.65500	-0.6153	9	.	.	.	-32.5023	10.291	0.43596	0.0:0.9104:0.0:0.0896	.	671	A1X283	SPD2B_HUMAN	T	671	ENSP00000309714:R671T	.	R	-	2	0	SH3PXD2B	171698702	0.887000	0.30362	1.000000	0.80357	0.965000	0.64279	4.643000	0.61390	2.563000	0.86464	0.561000	0.74099	AGG		0.602	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		G	171766097	C	G	171766097	3	3	284	1	0	0	0	0	1	0	0	0	14260	681	24	3	727	3	SH3PXD2B	5	171766097	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	20845783	171766097	9149163	31	15685											
HIST1H3C	8352	broad.mit.edu	37	6	26045645	26045645	+	Missense_Mutation	SNP	C	C	G	rs375724815		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr6:26045645C>G	ENST00000540144.1	+	1	7	c.7C>G	c.(7-9)Cgt>Ggt	p.R3G	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	3					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R3G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCAAATGGCTCGTACGAAGCA	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											50	53	52					6																	26045645		2203	4298	6501	26153624	SO:0001583	missense	8352			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.7C>G	6.37:g.26045645C>G	ENSP00000439493:p.Arg3Gly		26153624	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474620	0.26511	.	.	ENSG00000196532	ENST00000540144	T	0.46451	0.87	4.67	4.67	0.58626	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.34843	D	0.740854	.	.	.	.	.	.	T	0.58059	-0.7703	6	0.66056	D	0.02	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	G	3	ENSP00000439493:R3G	ENSP00000439493:R3G	R	+	1	0	HIST1H3C	26153624	0.775000	0.28604	1.000000	0.80357	0.197000	0.23852	1.462000	0.35266	2.529000	0.85273	0.591000	0.81541	CGT		0.502	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		G	26045645	C	G	26045645	3	3	284	1	0	0	0	0	1	0	0	0	7157	884	31	3	9	3	HIST1H3C	6	26045645	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08		26045645	145069422	32	15686											
ZKSCAN4	387032	broad.mit.edu	37	6	28212964	28212964	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr6:28212964C>G	ENST00000377294.2	-	5	1811	c.1568G>C	c.(1567-1569)gGt>gCt	p.G523A	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G368A	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	523					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.G523A(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCGAGTGAAACCTTTTCCACA	0.413																																																1	Substitution - Missense(1)	ovary(1)	6											160	148	152					6																	28212964		2203	4300	6503	28320943	SO:0001583	missense	387032			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1568G>C	6.37:g.28212964C>G	ENSP00000366509:p.Gly523Ala		28320943	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	2.217	-0.379365	0.05000	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.15834	2.39;2.39	5.58	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	N	0.00686	-1.255	0.23731	N	0.996995	B	0.34349	0.45	B	0.32864	0.154	T	0.21280	-1.0250	9	0.02654	T	1	.	16.0859	0.81049	0.0:0.866:0.134:0.0	.	523	Q969J2	ZKSC4_HUMAN	A	523;368	ENSP00000366509:G523A;ENSP00000401978:G368A	ENSP00000366509:G523A	G	-	2	0	ZKSCAN4	28320943	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.338000	0.19858	2.774000	0.95407	0.655000	0.94253	GGT		0.413	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		G	28212964	C	G	28212964	3	3	284	1	0	0	0	0	1	0	0	0	17689	507	18	3	73	3	ZKSCAN4	6	28212964	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	2167319	28212964	142902103	33	15687											
MRPS18B	28973	broad.mit.edu	37	6	30590648	30590648	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr6:30590648G>T	ENST00000259873.4	+	5	551	c.394G>T	c.(394-396)Ggt>Tgt	p.G132C	MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_Intron	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	132					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)	p.G132C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CGCCCACACGGGTATCATCTT	0.502																																																1	Substitution - Missense(1)	ovary(1)	6											159	129	140					6																	30590648		1511	2709	4220	30698627	SO:0001583	missense	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.394G>T	6.37:g.30590648G>T	ENSP00000259873:p.Gly132Cys		30698627	A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626484	0.66901	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.59083	0.29	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.82190	0.4983	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87015	0.2125	10	0.87932	D	0	.	17.2153	0.86941	0.0:0.0:1.0:0.0	.	109;132	Q5STN0;Q9Y676	.;RT18B_HUMAN	C	132;109	ENSP00000259873:G132C	ENSP00000259873:G132C	G	+	1	0	MRPS18B	30698627	1.000000	0.71417	0.376000	0.26042	0.393000	0.30537	6.444000	0.73452	2.793000	0.96121	0.655000	0.94253	GGT		0.502	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			T	30590648	G	T	30590648	3	4	284	1	0	0	0	0	1	0	0	0	9829	1232	43	3	412	3	MRPS18B	6	30590648	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	2377684	30590648	140524419	34	15688											
TCTE1	202500	broad.mit.edu	37	6	44254122	44254122	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr6:44254122C>T	ENST00000371505.4	-	3	547	c.425G>A	c.(424-426)tGc>tAc	p.C142Y	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_5'UTR|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	142								p.C142Y(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCACGTGGCACACGGGCCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	6											81	75	77					6																	44254122		2203	4300	6503	44362100	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.425G>A	6.37:g.44254122C>T	ENSP00000360560:p.Cys142Tyr		44362100	B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167290	0.78339	.	.	ENSG00000146221	ENST00000371505	T	0.54279	0.58	4.95	4.95	0.65309	.	0.045897	0.85682	D	0.000000	T	0.60971	0.2310	M	0.71206	2.165	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.57447	-0.7810	10	0.21014	T	0.42	-29.292	18.1798	0.89773	0.0:1.0:0.0:0.0	.	142	Q5JU00	TCTE1_HUMAN	Y	142	ENSP00000360560:C142Y	ENSP00000360560:C142Y	C	-	2	0	TCTE1	44362100	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.610000	0.61155	2.284000	0.76573	0.563000	0.77884	TGC		0.607	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		T	44254122	C	T	44254122	3	4	284	1	0	0	0	0	1	0	0	0	15717	710	25	2	1092	2	TCTE1	6	44254122	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	13663474	44254122	126860945	35	15689											
GPR110	266977	broad.mit.edu	37	6	46978027	46978027	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr6:46978027G>A	ENST00000371253.2	-	11	1359	c.1144C>T	c.(1144-1146)Ctt>Ttt	p.L382F	GPR110_ENST00000283297.5_Missense_Mutation_p.L185F|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	382					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L382F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCTGAATTAAGGATATTGTCA	0.418																																																1	Substitution - Missense(1)	ovary(1)	6											69	63	65					6																	46978027		2203	4300	6503	47085986	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1144C>T	6.37:g.46978027G>A	ENSP00000360299:p.Leu382Phe		47085986	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688990	0.48097	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.50277	0.75;0.76	5.2	4.32	0.51571	.	0.000000	0.49305	D	0.000153	T	0.55862	0.1947	M	0.74258	2.255	0.28760	N	0.900978	D	0.76494	0.999	D	0.68765	0.96	T	0.57177	-0.7856	10	0.87932	D	0	-20.9314	13.5794	0.61893	0.0763:0.0:0.9237:0.0	.	382	Q5T601	GP110_HUMAN	F	382;382;185	ENSP00000360299:L382F;ENSP00000283297:L185F	ENSP00000283297:L185F	L	-	1	0	GPR110	47085986	0.998000	0.40836	0.264000	0.24511	0.510000	0.34073	1.895000	0.39778	1.307000	0.44944	0.549000	0.68633	CTT		0.418	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		A	46978027	G	A	46978027	3	1	284	1	0	0	0	0	1	0	0	0	6627	1000	35	2	1608	2	GPR110	6	46978027	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	2723905	46978027	124137040	36	15690											
TINAG	27283	broad.mit.edu	37	6	54212311	54212311	+	Missense_Mutation	SNP	C	C	T	rs376779713		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr6:54212311C>T	ENST00000259782.4	+	6	991	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	299					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R299C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCTGAGAAAACGTGGGTAAAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	6						C	CYS/ARG	0,4406		0,0,2203	88	78	81		895	5.8	1	6		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TINAG	NM_014464.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	299/477	54212311	1,13005	2203	4300	6503	54320270	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.895C>T	6.37:g.54212311C>T	ENSP00000259782:p.Arg299Cys		54320270	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827422	0.71143	0.0	1.16E-4	ENSG00000137251	ENST00000259782	D	0.84146	-1.81	5.77	5.77	0.91146	Peptidase C1A, papain C-terminal (2);	0.168599	0.43919	D	0.000514	D	0.91106	0.7200	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	D	0.90865	0.4741	10	0.44086	T	0.13	.	13.5316	0.61625	0.1559:0.8441:0.0:0.0	.	299	Q9UJW2	TINAG_HUMAN	C	299	ENSP00000259782:R299C	ENSP00000259782:R299C	R	+	1	0	TINAG	54320270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.098000	0.41757	2.728000	0.93425	0.591000	0.81541	CGT		0.403	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		T	54212311	C	T	54212311	3	4	284	1	0	0	0	0	1	0	0	0	15921	536	19	1	917	1	TINAG	6	54212311	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	7234284	54212311	116902756	37	15691											
ZNF292	23036	broad.mit.edu	37	6	87967138	87967138	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr6:87967138C>T	ENST00000369577.3	+	8	3834	c.3791C>T	c.(3790-3792)cCt>cTt	p.P1264L	ZNF292_ENST00000339907.4_Missense_Mutation_p.P1259L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1264						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P1119L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTTCCTTCCTTTACCTGCA	0.388																																																1	Substitution - Missense(1)	ovary(1)	6											62	58	59					6																	87967138		1895	4114	6009	88023857	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3791C>T	6.37:g.87967138C>T	ENSP00000358590:p.Pro1264Leu		88023857	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021659	0.75275	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08984	3.03;3.04	5.5	5.5	0.81552	.	0.257993	0.39985	N	0.001217	T	0.18002	0.0432	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.00909	-1.1518	10	0.87932	D	0	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	1264	O60281	ZN292_HUMAN	L	1264;1259	ENSP00000358590:P1264L;ENSP00000342847:P1259L	ENSP00000342847:P1259L	P	+	2	0	ZNF292	88023857	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.404000	0.59735	2.599000	0.87857	0.650000	0.86243	CCT		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		T	87967138	C	T	87967138	3	4	284	1	0	0	0	0	1	0	0	0	17826	681	24	2	3821	2	ZNF292	6	87967138	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	33754827	87967138	83147929	38	15692											
MDN1	23195	broad.mit.edu	37	6	90385899	90385899	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr6:90385899C>G	ENST00000369393.3	-	77	12682	c.12567G>C	c.(12565-12567)tgG>tgC	p.W4189C	MDN1_ENST00000428876.1_Missense_Mutation_p.W4189C|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4189					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.W4189C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCATCCATCCCATGAAGACG	0.443																																																1	Substitution - Missense(1)	ovary(1)	6											109	100	103					6																	90385899		2203	4300	6503	90442620	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12567G>C	6.37:g.90385899C>G	ENSP00000358400:p.Trp4189Cys		90442620	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647323	0.67358	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03860	3.78;3.78	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00589	-1.1656	10	0.48119	T	0.1	.	20.0666	0.97706	0.0:1.0:0.0:0.0	.	4189	Q9NU22	MDN1_HUMAN	C	4189	ENSP00000358400:W4189C;ENSP00000413970:W4189C	ENSP00000358400:W4189C	W	-	3	0	MDN1	90442620	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.152000	0.77419	2.826000	0.97356	0.561000	0.74099	TGG		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			G	90385899	C	G	90385899	3	3	284	1	0	0	0	0	1	0	0	0	9415	624	22	3	4327	3	MDN1	6	90385899	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	2418761	90385899	80729168	39	15693											
TNRC18	84629	broad.mit.edu	37	7	5416592	5416592	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr7:5416592C>T	ENST00000430969.1	-	8	2842	c.2494G>A	c.(2494-2496)Gcc>Acc	p.A832T	TNRC18_ENST00000399537.4_Missense_Mutation_p.A832T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	832							chromatin binding (GO:0003682)	p.A832T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AACGCAGGGGCCATGCCCTGG	0.667																																																1	Substitution - Missense(1)	ovary(1)	7											20	27	25					7																	5416592		1964	4133	6097	5383118	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2494G>A	7.37:g.5416592C>T	ENSP00000395538:p.Ala832Thr		5383118	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286375	0.40494	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.11063	2.81;2.81	4.76	2.63	0.31362	.	.	.	.	.	T	0.04137	0.0115	N	0.02539	-0.55	0.25447	N	0.988042	B	0.06786	0.001	B	0.06405	0.002	T	0.36672	-0.9738	9	0.39692	T	0.17	.	5.9928	0.19476	0.0:0.5746:0.0:0.4254	.	832	O15417	TNC18_HUMAN	T	832;832;234	ENSP00000382452:A832T;ENSP00000395538:A832T	ENSP00000382452:A832T	A	-	1	0	TNRC18	5383118	1.000000	0.71417	0.982000	0.44146	0.954000	0.61252	1.948000	0.40303	0.987000	0.38709	0.561000	0.74099	GCC		0.667	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5416592	C	T	5416592	3	4	284	1	0	0	0	0	1	0	0	0	16339	739	26	2	6504	2	TNRC18	7	5416592	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08		5416592	153722071	40	15694											
ADAM22	53616	broad.mit.edu	37	7	87760739	87760739	+	Silent	SNP	T	T	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr7:87760739T>C	ENST00000265727.7	+	11	1060	c.981T>C	c.(979-981)gtT>gtC	p.V327V	ADAM22_ENST00000398209.3_Silent_p.V327V|ADAM22_ENST00000398201.4_Silent_p.V327V|ADAM22_ENST00000398204.4_Silent_p.V327V|ADAM22_ENST00000439864.1_Silent_p.V327V|ADAM22_ENST00000315984.7_Silent_p.V327V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	327	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V327V(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTGATGCAGTTCACCTTTTTT	0.338																																																2	Substitution - coding silent(2)	ovary(2)	7											113	110	111					7																	87760739		1850	4099	5949	87598675	SO:0001819	synonymous_variant	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.981T>C	7.37:g.87760739T>C			87598675	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	CCDS47637.1																																																																																				0.338	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		C	87760739	T	C	87760739	2	2	284	1	0	0	0	0	0	0	0	1	244	1770	62	4		4	ADAM22	7	87760739	Silent	SNP	T	TCGA-25-1313-01A-01W-0492-08	82344147	87760739	71377924	41	15695											
MOSPD3	64598	broad.mit.edu	37	7	100212803	100212803	+	Silent	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr7:100212803C>G	ENST00000393950.2	+	5	987	c.705C>G	c.(703-705)acC>acG	p.T235T	MOSPD3_ENST00000379527.2_Silent_p.T235T|MOSPD3_ENST00000424091.2_Silent_p.T225T|MOSPD3_ENST00000223054.4_Silent_p.T235T	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	235					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.T235T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCCTCCGGACCTGAGCTCCGT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	7											94	88	90					7																	100212803		2203	4300	6503	100050739	SO:0001819	synonymous_variant	64598			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.705C>G	7.37:g.100212803C>G			100050739	A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	CCDS5701.1																																																																																				0.627	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		G	100212803	C	G	100212803	2	3	284	1	0	0	0	0	0	0	0	1	9717	668	24	3		3	MOSPD3	7	100212803	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	12452064	100212803	58925860	42	15696											
ZAN	7455	broad.mit.edu	37	7	100377117	100377117	+	RNA	SNP	G	G	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr7:100377117G>T	ENST00000348028.3	+	0	6531				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E2122*(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGAACAGCAGGAGAACCCGAG	0.632																																																1	Substitution - Nonsense(1)	ovary(1)	7											28	31	30					7																	100377117		2049	4191	6240	100215053			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377117G>T			100215053	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Nonsense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	59	36.002018	0.99983	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	.	.	.	3.72	0.709	0.18150	.	1.441970	0.04569	N	0.392985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	5.673	0.17733	0.1125:0.3896:0.4978:0.0	.	.	.	.	X	2122;2122;2122;633	.	ENSP00000445091:E2122X	E	+	1	0	ZAN	100215053	0.002000	0.14202	0.001000	0.08648	0.023000	0.10783	0.314000	0.19432	0.144000	0.18951	0.558000	0.71614	GAG		0.632	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100377117	G	T	100377117	1	4	284	0	1	0	0	0	0	0	0	0	17513	1175	41	3		3	ZAN	7	100377117	RNA	SNP	G	TCGA-25-1313-01A-01W-0492-08	164314	100377117	58761546	43	15697											
MGAM	8972	broad.mit.edu	37	7	141722199	141722199	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr7:141722199A>G	ENST00000549489.2	+	7	937	c.842A>G	c.(841-843)aAg>aGg	p.K281R	MGAM_ENST00000475668.2_Missense_Mutation_p.K281R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	281	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.K281R(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGAATTGGAAGACCTGGCCC	0.483																																																2	Substitution - Missense(2)	ovary(2)	7											132	126	128					7																	141722199		1953	4157	6110	141368668	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.842A>G	7.37:g.141722199A>G	ENSP00000447378:p.Lys281Arg		141368668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523813	0.44866	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.85861	-2.04	5.55	3.22	0.36961	Glycoside hydrolase-type carbohydrate-binding (1);	0.113760	0.40222	N	0.001160	T	0.74359	0.3706	L	0.28694	0.88	0.30876	N	0.731961	B	0.12013	0.005	B	0.10450	0.005	T	0.66416	-0.5929	10	0.32370	T	0.25	.	8.2373	0.31634	0.8385:0.0:0.1615:0.0	.	281	O43451	MGA_HUMAN	R	281;281;158	ENSP00000447378:K281R	ENSP00000316431:K158R	K	+	2	0	MGAM	141368668	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.685000	0.25378	0.551000	0.29008	0.533000	0.62120	AAG		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			G	141722199	A	G	141722199	3	3	284	1	0	0	0	0	1	0	0	0	9541	72	3	4	864	4	MGAM	7	141722199	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08	41345082	141722199	17416464	44	15698											
KRBA1	84626	broad.mit.edu	37	7	149418594	149418594	+	Missense_Mutation	SNP	G	G	C	rs189055696|rs386719300	byFrequency	TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr7:149418594G>C	ENST00000485033.2	+	4	434	c.434G>C	c.(433-435)gGt>gCt	p.G145A	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.G145A|KRBA1_ENST00000255992.10_Missense_Mutation_p.G145A			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	145								p.G145A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCCAACTGGTGACGGGGTC	0.637																																																1	Substitution - Missense(1)	ovary(1)	7											23	26	25					7																	149418594		2070	4207	6277	149049527	SO:0001583	missense	84626			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.434G>C	7.37:g.149418594G>C	ENSP00000420112:p.Gly145Ala		149049527	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.519|9.519	1.107665|1.107665	0.20714|0.20714	.|.	.|.	ENSG00000133619|ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033|ENST00000467333	T;T;T|.	0.64085|.	0.0;-0.08;-0.08|.	3.43|3.43	2.51|2.51	0.30379|0.30379	.|.	0.616958|.	0.13530|.	N|.	0.381031|.	T|T	0.33904|0.33904	0.0879|0.0879	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	P|.	0.49961|.	0.93|.	B|.	0.42087|.	0.375|.	T|T	0.21075|0.21075	-1.0256|-1.0256	10|5	0.59425|.	D|.	0.04|.	0.2257|0.2257	8.6109|8.6109	0.33801|0.33801	0.0:0.2371:0.7629:0.0|0.0:0.2371:0.7629:0.0	.|.	145|.	A5PL33|.	KRBA1_HUMAN|.	A|C	145|54	ENSP00000255992:G145A;ENSP00000317165:G145A;ENSP00000420112:G145A|.	ENSP00000255992:G145A|.	G|W	+|+	2|3	0|0	KRBA1|KRBA1	149049527|149049527	0.083000|0.083000	0.21467|0.21467	0.005000|0.005000	0.12908|0.12908	0.002000|0.002000	0.02628|0.02628	1.284000|1.284000	0.33249|0.33249	0.772000|0.772000	0.33382|0.33382	-0.282000|-0.282000	0.10007|0.10007	GGT|TGG		0.637	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		C	149418594	G	C	149418594	3	2	284	1	0	0	0	0	1	0	0	0	8439	1261	44	3	448	3	KRBA1	7	149418594	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	7696395	149418594	9720069	45	15699											
SNTG1	54212	broad.mit.edu	37	8	51449245	51449245	+	Nonsense_Mutation	SNP	T	T	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr8:51449245T>A	ENST00000522124.1	+	11	1218	c.557T>A	c.(556-558)tTa>tAa	p.L186*	SNTG1_ENST00000276467.5_Nonsense_Mutation_p.L186*|SNTG1_ENST00000517473.1_Nonsense_Mutation_p.L186*|SNTG1_ENST00000518864.1_Nonsense_Mutation_p.L186*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	186					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.L186*(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGGACACATTATCATGCTCG	0.438																																																1	Substitution - Nonsense(1)	ovary(1)	8											155	146	149					8																	51449245		2203	4300	6503	51611798	SO:0001587	stop_gained	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.557T>A	8.37:g.51449245T>A	ENSP00000429842:p.Leu186*		51611798	Q2M3Q0|Q9NY98	Nonsense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.786592	0.90367	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.1961	0.59738	0.0:0.0:0.0:1.0	.	.	.	.	X	186	.	ENSP00000276467:L186X	L	+	2	0	SNTG1	51611798	0.992000	0.36948	0.002000	0.10522	0.051000	0.14879	6.608000	0.74168	1.804000	0.52760	0.402000	0.26972	TTA		0.438	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			A	51449245	T	A	51449245	4	1	284	1	0	0	0	0	0	1	0	0	14877	1764	61	5	591	5	SNTG1	8	51449245	Nonsense_Mutation	SNP	T	TCGA-25-1313-01A-01W-0492-08		51449245	94914777	46	15700											
RGS20	8601	broad.mit.edu	37	8	54871009	54871009	+	Silent	SNP	T	T	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr8:54871009T>C	ENST00000297313.3	+	6	1250	c.1158T>C	c.(1156-1158)atT>atC	p.I386I	RGS20_ENST00000344277.6_Silent_p.I271I|RGS20_ENST00000522225.1_Silent_p.I120I|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Silent_p.I239I	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	386					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.I386I(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGAAATCTATTGAAGCATAGG	0.343																																																1	Substitution - coding silent(1)	ovary(1)	8											58	49	52					8																	54871009		2203	4300	6503	55033562	SO:0001819	synonymous_variant	8601			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.1158T>C	8.37:g.54871009T>C			55033562	Q96BG9	Silent	SNP	ENST00000297313.3	37	CCDS6155.1																																																																																				0.343	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			C	54871009	T	C	54871009	2	2	284	1	0	0	0	0	0	0	0	1	13306	1800	63	4		4	RGS20	8	54871009	Silent	SNP	T	TCGA-25-1313-01A-01W-0492-08	3421764	54871009	91493013	47	15701											
PRDM14	63978	broad.mit.edu	37	8	70978671	70978671	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr8:70978671C>T	ENST00000276594.2	-	5	1183	c.982G>A	c.(982-984)Gtc>Atc	p.V328I		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	328	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.V328I(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCACAGTTGACATAGGACATC	0.428																																					NSCLC(129;99 1813 5906 40656 46114)											1	Substitution - Missense(1)	ovary(1)	8											128	125	126					8																	70978671		2203	4300	6503	71141225	SO:0001583	missense	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.982G>A	8.37:g.70978671C>T	ENSP00000276594:p.Val328Ile		71141225	Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682484	0.88542	.	.	ENSG00000147596	ENST00000276594	T	0.78595	-1.19	5.89	5.89	0.94794	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78909	-0.2018	10	0.22109	T	0.4	-29.9487	20.2618	0.98447	0.0:1.0:0.0:0.0	.	328	Q9GZV8	PRD14_HUMAN	I	328	ENSP00000276594:V328I	ENSP00000276594:V328I	V	-	1	0	PRDM14	71141225	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	7.481000	0.81124	2.793000	0.96121	0.655000	0.94253	GTC		0.428	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			T	70978671	C	T	70978671	3	4	284	1	0	0	0	0	1	0	0	0	12458	478	17	2	749	2	PRDM14	8	70978671	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	16107662	70978671	75385351	48	15702											
KCNB2	9312	broad.mit.edu	37	8	73849162	73849162	+	Silent	SNP	G	G	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr8:73849162G>T	ENST00000523207.1	+	3	2160	c.1572G>T	c.(1570-1572)ctG>ctT	p.L524L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	524					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.L524L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACGAGCAGCTGAACAACACGT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	8											123	120	121					8																	73849162		2203	4300	6503	74011716	SO:0001819	synonymous_variant	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1572G>T	8.37:g.73849162G>T			74011716	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																				0.507	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73849162	G	T	73849162	2	4	284	1	0	0	0	0	0	0	0	1	8013	1277	45	3		3	KCNB2	8	73849162	Silent	SNP	G	TCGA-25-1313-01A-01W-0492-08	2870491	73849162	72514860	49	15703											
RGS22	26166	broad.mit.edu	37	8	101075775	101075775	+	Nonsense_Mutation	SNP	A	A	T	rs373041410		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr8:101075775A>T	ENST00000360863.6	-	8	1415	c.1221T>A	c.(1219-1221)taT>taA	p.Y407*	RGS22_ENST00000523437.1_Nonsense_Mutation_p.Y395*|RGS22_ENST00000523287.1_Nonsense_Mutation_p.Y226*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	407					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Y407*(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGCCAATGTCATAAGTCCTAT	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	8											154	139	144					8																	101075775		1864	4105	5969	101144951	SO:0001587	stop_gained	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1221T>A	8.37:g.101075775A>T	ENSP00000354109:p.Tyr407*		101144951	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Nonsense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	A	37	6.219361	0.97385	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	.	.	.	5.68	-5.01	0.02991	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9776	0.64282	0.5003:0.0:0.4997:0.0	.	.	.	.	X	407;395;226;395	.	ENSP00000354109:Y407X	Y	-	3	2	RGS22	101144951	0.521000	0.26258	0.273000	0.24645	0.021000	0.10359	-0.263000	0.08670	-0.902000	0.03886	-1.007000	0.02485	TAT		0.393	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		T	101075775	A	T	101075775	4	4	284	1	0	0	0	0	0	1	0	0	13308	224	8	5	2653	5	RGS22	8	101075775	Nonsense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08	27226613	101075775	45288247	50	15704											
DMRT3	58524	broad.mit.edu	37	9	990347	990347	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr9:990347T>A	ENST00000190165.2	+	2	799	c.761T>A	c.(760-762)gTg>gAg	p.V254E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	254					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V254E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCGCTTGAAGTGTTAAAAAAG	0.572																																																1	Substitution - Missense(1)	ovary(1)	9											63	69	67					9																	990347		2203	4300	6503	980347	SO:0001583	missense	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.761T>A	9.37:g.990347T>A	ENSP00000190165:p.Val254Glu		980347	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384715	0.42308	.	.	ENSG00000064218	ENST00000190165	T	0.56444	0.46	4.62	4.62	0.57501	DMRTA motif (1);UBA-like (1);	0.064498	0.64402	D	0.000009	T	0.65770	0.2723	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69363	-0.5165	10	0.87932	D	0	-28.1735	14.0403	0.64672	0.0:0.0:0.0:1.0	.	254	Q9NQL9	DMRT3_HUMAN	E	254	ENSP00000190165:V254E	ENSP00000190165:V254E	V	+	2	0	DMRT3	980347	1.000000	0.71417	0.668000	0.29813	0.128000	0.20619	7.287000	0.78681	1.728000	0.51552	0.374000	0.22700	GTG		0.572	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		A	990347	T	A	990347	3	1	284	1	0	0	0	0	1	0	0	0	4587	1696	59	5	767	5	DMRT3	9	990347	Missense_Mutation	SNP	T	TCGA-25-1313-01A-01W-0492-08		990347	140223084	51	15705											
ARID3C	138715	broad.mit.edu	37	9	34622527	34622527	+	Splice_Site	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr9:34622527C>G	ENST00000378909.2	-	5	958		c.e5-1		DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000341694.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CCACTCTCCTCTAGAAGAACA	0.552																																																2	Unknown(2)	ovary(1)|skin(1)	9											63	68	66					9																	34622527		2203	4300	6503	34612527	SO:0001630	splice_region_variant	138715				CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.866-1G>C	9.37:g.34622527C>G			34612527		Splice_Site	SNP	ENST00000378909.2	37	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	6.767	0.510337	0.12883	.	.	ENSG00000205143	ENST00000378909	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2586	0.54636	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARID3C	34612527	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	4.091000	0.57700	2.603000	0.88011	0.448000	0.29417	.		0.552	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061	Intron	G	34622527	C	G	34622527	5	3	284	1	0	0	0	0	0	0	1	0	918	927	32	3	384	3	ARID3C	9	34622527	Splice_Site	SNP	C	TCGA-25-1313-01A-01W-0492-08	33632180	34622527	106590904	52	15706											
CA9	768	broad.mit.edu	37	9	35679329	35679329	+	Missense_Mutation	SNP	G	G	T	rs202078638		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr9:35679329G>T	ENST00000378357.4	+	7	1159	c.1055G>T	c.(1054-1056)aGt>aTt	p.S352I	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	352	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.S352I(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GTGATGCTGAGTGCTAAGCAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	9											174	151	158					9																	35679329		2203	4300	6503	35669329	SO:0001583	missense	768			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.1055G>T	9.37:g.35679329G>T	ENSP00000367608:p.Ser352Ile		35669329	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824087	0.71143	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.61392	0.11	5.37	4.41	0.53225	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.153114	0.47093	D	0.000257	D	0.82296	0.5006	H	0.96943	3.91	0.39933	D	0.974313	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87236	0.2263	10	0.87932	D	0	.	11.5292	0.50597	0.0:0.1806:0.8194:0.0	.	352;352	F5H404;Q16790	.;CAH9_HUMAN	I	352	ENSP00000367608:S352I	ENSP00000367608:S352I	S	+	2	0	CA9	35669329	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	3.210000	0.51129	2.665000	0.90641	0.467000	0.42956	AGT		0.527	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		T	35679329	G	T	35679329	3	4	284	1	0	0	0	0	1	0	0	0	2524	1029	36	3	1081	3	CA9	9	35679329	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	1056802	35679329	105534102	53	15707											
FRMPD1	22844	broad.mit.edu	37	9	37732367	37732367	+	Missense_Mutation	SNP	G	G	C	rs142759682	byFrequency	TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr9:37732367G>C	ENST00000539465.1	+	10	1518	c.925G>C	c.(925-927)Gcg>Ccg	p.A309P	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A309P|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A178P|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A131P|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	309	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.A309P(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACTCCGACTCGCGGCTCTGCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	9											63	64	64					9																	37732367		2203	4300	6503	37722367	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.925G>C	9.37:g.37732367G>C	ENSP00000444411:p.Ala309Pro		37722367	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918454	0.92249	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.34	5.34	0.76211	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.94732	0.8300	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95297	0.8400	10	0.87932	D	0	-15.0169	16.5411	0.84385	0.0:0.0:1.0:0.0	.	178;309	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	P	309;309;131;178	ENSP00000366995:A309P;ENSP00000444411:A309P;ENSP00000437762:A131P;ENSP00000444804:A178P	ENSP00000366995:A309P	A	+	1	0	FRMPD1	37722367	1.000000	0.71417	0.541000	0.28102	0.936000	0.57629	9.412000	0.97347	2.504000	0.84457	0.655000	0.94253	GCG		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		C	37732367	G	C	37732367	3	2	284	1	0	0	0	0	1	0	0	0	6057	1087	38	3	959	3	FRMPD1	9	37732367	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	2053038	37732367	103481064	54	15708											
SVEP1	79987	broad.mit.edu	37	9	113276232	113276232	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr9:113276232A>C	ENST00000401783.2	-	4	1455	c.1119T>G	c.(1117-1119)tgT>tgG	p.C373W	SVEP1_ENST00000374461.1_Missense_Mutation_p.C350W|SVEP1_ENST00000302728.8_Missense_Mutation_p.C373W|SVEP1_ENST00000374469.1_Missense_Mutation_p.C350W|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	373					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.C373W(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTCACGTTCACAGGTCTGGC	0.453																																																1	Substitution - Missense(1)	ovary(1)	9											56	54	55					9																	113276232		1946	4138	6084	112316053	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1119T>G	9.37:g.113276232A>C	ENSP00000384917:p.Cys373Trp		112316053	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777213	0.70107	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62	5.88	-4.06	0.03986	Complement control module (1);Growth factor, receptor (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99152	0.9707	M	0.83603	2.65	0.52099	D	0.999942	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.998	D	0.99084	1.0838	10	0.87932	D	0	.	13.0479	0.58937	0.4953:0.0:0.5047:0.0	.	373;373;373;373	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	W	373;350;373;350	ENSP00000384917:C373W;ENSP00000363593:C350W;ENSP00000304118:C373W;ENSP00000363585:C350W	ENSP00000304118:C373W	C	-	3	2	SVEP1	112316053	0.991000	0.36638	0.944000	0.38274	0.893000	0.52053	0.394000	0.20834	-0.828000	0.04273	0.528000	0.53228	TGT		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113276232	A	C	113276232	3	2	284	1	0	0	0	0	1	0	0	0	15420	157	6	5	9776	5	SVEP1	9	113276232	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08	75543865	113276232	27937199	55	15709											
PAPPA	5069	broad.mit.edu	37	9	119139876	119139876	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr9:119139876C>G	ENST00000328252.3	+	20	4996	c.4627C>G	c.(4627-4629)Ctc>Gtc	p.L1543V	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.L581V	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1543	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1543V(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACTGCTGGTCTCAAGTGGTA	0.522																																																1	Substitution - Missense(1)	ovary(1)	9											191	150	164					9																	119139876		2203	4300	6503	118179697	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4627C>G	9.37:g.119139876C>G	ENSP00000330658:p.Leu1543Val		118179697	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947743	0.92593	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.03982	4.49;3.74	5.97	5.97	0.96955	Sushi/SCR/CCP (1);	0.058448	0.64402	D	0.000001	T	0.22898	0.0553	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.945;0.994	T	0.00013	-1.2419	10	0.45353	T	0.12	-25.8562	20.4301	0.99081	0.0:1.0:0.0:0.0	.	581;1543	F5GZ19;Q13219	.;PAPP1_HUMAN	V	1543;581	ENSP00000330658:L1543V;ENSP00000441461:L581V	ENSP00000330658:L1543V	L	+	1	0	PAPPA	118179697	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.456000	0.80751	2.834000	0.97654	0.557000	0.71058	CTC		0.522	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		G	119139876	C	G	119139876	3	3	284	1	0	0	0	0	1	0	0	0	11432	913	32	3	4705	3	PAPPA	9	119139876	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	5863644	119139876	22073555	56	15710											
PPP6C	5537	broad.mit.edu	37	9	127916197	127916197	+	Silent	SNP	G	G	A	rs142534549	byFrequency	TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr9:127916197G>A	ENST00000373547.4	-	5	546	c.447C>T	c.(445-447)ctC>ctT	p.L149L	PPP6C_ENST00000415905.1_Silent_p.L127L|PPP6C_ENST00000451402.1_Silent_p.L186L|PPP6C_ENST00000373546.3_Silent_p.L2L	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	149					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.L149L(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CTGCTACTGTGAGCATGTCAA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	9						G	,,	1,4405	4.2+/-10.8	0,1,2202	105	108	107		558,381,447	3.9	1	9	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PPP6C	NM_001123355.1,NM_001123369.1,NM_002721.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	186/343,127/284,149/306	127916197	1,13005	2203	4300	6503	126956018	SO:0001819	synonymous_variant	5537			AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.447C>T	9.37:g.127916197G>A			126956018	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Silent	SNP	ENST00000373547.4	37	CCDS6861.1																																																																																				0.338	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		A	127916197	G	A	127916197	2	1	284	1	0	0	0	0	0	0	0	1	12410	1277	45	2		2	PPP6C	9	127916197	Silent	SNP	G	TCGA-25-1313-01A-01W-0492-08	8776321	127916197	13297234	57	15711											
EGFL7	51162	broad.mit.edu	37	9	139566726	139566726	+	Silent	SNP	G	G	A	rs564796941		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr9:139566726G>A	ENST00000371699.1	+	10	1721	c.810G>A	c.(808-810)aaG>aaA	p.K270K	EGFL7_ENST00000308874.7_Silent_p.K270K|EGFL7_ENST00000371698.3_Silent_p.K270K|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Silent_p.K270K			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	270					angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)	p.K270K(1)		kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GCTCCTGCAAGAAAGACTCGT	0.652											OREG0019619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	9											100	86	91					9																	139566726		2202	4300	6502	138686547	SO:0001819	synonymous_variant	51162			AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.810G>A	9.37:g.139566726G>A		1649	138686547	B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	CCDS7002.1																																																																																				0.652	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		A	139566726	G	A	139566726	2	1	284	1	0	0	0	0	0	0	0	1	4964	933	33	2		2	EGFL7	9	139566726	Silent	SNP	G	TCGA-25-1313-01A-01W-0492-08	11650529	139566726	1646705	58	15712											
ZNF25	219749	broad.mit.edu	37	10	38241638	38241638	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr10:38241638C>G	ENST00000302609.7	-	6	1000	c.788G>C	c.(787-789)tGt>tCt	p.C263S	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C263S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GGCTTTCCCACACTCCTTACA	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											112	101	105					10																	38241638		2203	4300	6503	38281644	SO:0001583	missense	219749			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"Zinc fingers, C2H2-type", "-"	13043	protein-coding gene	gene with protein product		194528	"zinc finger protein 25 (KOX 19)"			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.788G>C	10.37:g.38241638C>G	ENSP00000302222:p.Cys263Ser		38281644	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164357	0.78339	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	D	0.85861	-2.04	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000189	D	0.93887	0.8044	M	0.92077	3.27	0.48185	D	0.999609	D	0.89917	1.0	D	0.76071	0.987	D	0.94975	0.8120	10	0.87932	D	0	-20.2789	15.9339	0.79686	0.0:1.0:0.0:0.0	.	263	P17030	ZNF25_HUMAN	S	263;227	ENSP00000302222:C263S	ENSP00000302222:C263S	C	-	2	0	ZNF25	38281644	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	4.513000	0.60476	2.697000	0.92050	0.549000	0.68633	TGT		0.433	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		G	38241638	C	G	38241638	3	3	284	1	0	0	0	0	1	0	0	0	17794	478	17	3	586	3	ZNF25	10	38241638	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08		38241638	97293109	59	15713											
PRKG1	5592	broad.mit.edu	37	10	53822295	53822295	+	Splice_Site	SNP	A	A	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr10:53822295A>T	ENST00000401604.2	+	7	989		c.e7-1		PRKG1_ENST00000373975.2_Splice_Site|PRKG1_ENST00000373985.1_Splice_Site|PRKG1_ENST00000373980.4_Splice_Site			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I						actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTCTCTTTGCAGGTAAATGTC	0.393																																																1	Unknown(1)	ovary(1)	10											63	61	62					10																	53822295		2203	4300	6503	53492301	SO:0001630	splice_region_variant	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.796-1A>T	10.37:g.53822295A>T			53492301	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Splice_Site	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836046	0.71373	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0391	0.64663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKG1	53492301	1.000000	0.71417	0.932000	0.37286	0.784000	0.44337	8.793000	0.91862	2.202000	0.70862	0.533000	0.62120	.		0.393	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Intron	T	53822295	A	T	53822295	5	4	284	1	0	0	0	0	0	0	1	0	12525	202	7	5	1135	5	PRKG1	10	53822295	Splice_Site	SNP	A	TCGA-25-1313-01A-01W-0492-08	15580657	53822295	81712452	60	15714											
EGR2	1959	broad.mit.edu	37	10	64573741	64573741	+	Silent	SNP	G	G	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr10:64573741G>C	ENST00000242480.3	-	2	982	c.657C>G	c.(655-657)ctC>ctG	p.L219L	EGR2_ENST00000439032.1_Silent_p.L219L|EGR2_ENST00000411732.1_Silent_p.L169L|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	219					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.L219L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCATTGGGAAGAGACCTGGGT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	10											98	95	96					10																	64573741		2203	4300	6503	64243747	SO:0001819	synonymous_variant	1959			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.657C>G	10.37:g.64573741G>C			64243747	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	CCDS7267.1																																																																																				0.592	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		C	64573741	G	C	64573741	2	2	284	1	0	0	0	0	0	0	0	1	4972	929	33	3		3	EGR2	10	64573741	Silent	SNP	G	TCGA-25-1313-01A-01W-0492-08	10751446	64573741	70961006	61	15715											
MGEA5	10724	broad.mit.edu	37	10	103550654	103550654	+	Splice_Site	SNP	T	T	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr10:103550654T>A	ENST00000361464.3	-	14	2848	c.2453A>T	c.(2452-2454)gAg>gTg	p.E818V	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Splice_Site_p.E765V|MGEA5_ENST00000357797.5_Splice_Site_p.E751V	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	818					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.E818V(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGTATTACCTCAGCCTCAGA	0.313																																																1	Substitution - Missense(1)	ovary(1)	10											81	81	81					10																	103550654		2203	4300	6503	103540644	SO:0001630	splice_region_variant	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2454+1A>T	10.37:g.103550654T>A			103540644	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878834	0.72294	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797	T;T;T	0.36157	1.29;1.3;1.27	5.67	5.67	0.87782	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	L	0.56769	1.78	0.80722	D	1	D;P;D	0.55172	0.958;0.949;0.97	P;P;P	0.50082	0.63;0.488;0.576	T	0.49428	-0.8941	10	0.72032	D	0.01	-16.6044	16.215	0.82206	0.0:0.0:0.0:1.0	.	765;751;818	E9PGF9;O60502-2;O60502	.;.;NCOAT_HUMAN	V	765;818;751	ENSP00000409973:E765V;ENSP00000354850:E818V;ENSP00000350445:E751V	ENSP00000350445:E751V	E	-	2	0	MGEA5	103540644	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.630000	0.83225	2.288000	0.76882	0.533000	0.62120	GAG		0.313	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215	Missense_Mutation	A	103550654	T	A	103550654	5	1	284	1	0	0	0	0	0	0	1	0	9555	1565	54	5	309	5	MGEA5	10	103550654	Splice_Site	SNP	T	TCGA-25-1313-01A-01W-0492-08	38976913	103550654	31984093	62	15716											
DHX32	55760	broad.mit.edu	37	10	127526878	127526878	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr10:127526878C>A	ENST00000284690.3	-	10	2450	c.1960G>T	c.(1960-1962)Ggt>Tgt	p.G654C	DHX32_ENST00000284688.6_Missense_Mutation_p.G573C|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.G278C|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	654						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.G654C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTGAGTAACCAGACAGGGGA	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											140	133	136					10																	127526878		2203	4300	6503	127516868	SO:0001583	missense	55760				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1960G>T	10.37:g.127526878C>A	ENSP00000284690:p.Gly654Cys		127516868	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	4.268	0.048892	0.08243	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.18174	2.23;4.02;3.74	4.94	-9.45	0.00600	Domain of unknown function DUF1605 (1);	1.019770	0.07798	N	0.956083	T	0.07908	0.0198	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.46373	-0.9196	10	0.87932	D	0	-2.8159	10.1723	0.42917	0.235:0.6096:0.0:0.1554	.	654	Q7L7V1	DHX32_HUMAN	C	278;654;573	ENSP00000357710:G278C;ENSP00000284690:G654C;ENSP00000284688:G573C	ENSP00000284688:G573C	G	-	1	0	DHX32	127516868	0.000000	0.05858	0.000000	0.03702	0.300000	0.27592	-0.747000	0.04823	-1.315000	0.02297	-0.367000	0.07326	GGT		0.433	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		A	127526878	C	A	127526878	3	1	284	1	0	0	0	0	1	0	0	0	4505	594	21	3	279	3	DHX32	10	127526878	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	23976224	127526878	8007869	63	15717											
PAX6	5080	broad.mit.edu	37	11	31816333	31816333	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr11:31816333C>A	ENST00000379132.3	-	7	807	c.527G>T	c.(526-528)gGc>gTc	p.G176V	PAX6_ENST00000379111.2_Missense_Mutation_p.G176V|PAX6_ENST00000379115.4_Missense_Mutation_p.G190V|PAX6_ENST00000419022.1_Missense_Mutation_p.G190V|PAX6_ENST00000379107.2_Missense_Mutation_p.G190V|PAX6_ENST00000241001.8_Missense_Mutation_p.G176V|PAX6_ENST00000379123.5_Missense_Mutation_p.G176V|PAX6_ENST00000379129.2_Missense_Mutation_p.G190V			P26367	PAX6_HUMAN	paired box 6	176	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.G190V(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TTGCTGGCAGCCATCTGGAAC	0.463									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																							1	Substitution - Missense(1)	ovary(1)	11											74	69	71					11																	31816333		2202	4299	6501	31772909	SO:0001583	missense	5080	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.527G>T	11.37:g.31816333C>A	ENSP00000368427:p.Gly176Val		31772909	Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364113	0.61513	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000531910;ENST00000471303;ENST00000455099	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99176	-3.43;-3.44;-3.43;-3.16;-3.43;-3.44;-3.43;-3.44;-3.44;-2.88;-2.88;-3.44;-3.2;-2.81;-3.6;-5.52	5.76	5.76	0.90799	.	0.090880	0.85682	D	0.000000	D	0.97939	0.9322	L	0.57536	1.79	0.80722	D	1	B;B	0.21606	0.058;0.036	B;B	0.18263	0.021;0.011	D	0.95876	0.8895	10	0.39692	T	0.17	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	190;176	F1T0F8;P26367	.;PAX6_HUMAN	V	190;176;190;5;190;176;190;176;176;40;40;176;131;40;40;123	ENSP00000404100:G190V;ENSP00000368427:G176V;ENSP00000368424:G190V;ENSP00000451885:G5V;ENSP00000368401:G190V;ENSP00000241001:G176V;ENSP00000368410:G190V;ENSP00000368406:G176V;ENSP00000368418:G176V;ENSP00000451901:G40V;ENSP00000450775:G40V;ENSP00000368403:G176V;ENSP00000451372:G131V;ENSP00000452558:G40V;ENSP00000435884:G40V;ENSP00000397384:G123V	ENSP00000241001:G176V	G	-	2	0	PAX6	31772909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.453000	0.80700	2.716000	0.92895	0.655000	0.94253	GGC		0.463	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		A	31816333	C	A	31816333	3	1	284	1	0	0	0	0	1	0	0	0	11483	739	26	3	765	3	PAX6	11	31816333	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08		31816333	103190183	64	15718											
OR5T1	390155	broad.mit.edu	37	11	56044080	56044080	+	Silent	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr11:56044080C>T	ENST00000313033.2	+	1	1052	c.966C>T	c.(964-966)ttC>ttT	p.F322F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F322F(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GAAATTGGTTCATAAATAAGT	0.338																																																1	Substitution - coding silent(1)	ovary(1)	11											39	41	40					11																	56044080		2201	4295	6496	55800656	SO:0001819	synonymous_variant	390155			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.966C>T	11.37:g.56044080C>T			55800656	B2RNM9	Silent	SNP	ENST00000313033.2	37	CCDS31525.1																																																																																				0.338	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		T	56044080	C	T	56044080	2	4	284	1	0	0	0	0	0	0	0	1	11181	825	29	2		2	OR5T1	11	56044080	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	24227747	56044080	78962436	65	15719											
FAM111B	374393	broad.mit.edu	37	11	58893255	58893255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr11:58893255G>A	ENST00000343597.3	+	4	1876	c.1685G>A	c.(1684-1686)tGg>tAg	p.W562*	FAM111B_ENST00000411426.1_Nonsense_Mutation_p.W532*|FAM111B_ENST00000529618.1_Nonsense_Mutation_p.W532*	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	562							catalytic activity (GO:0003824)	p.W562*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CCAGGACTATGGCGACAGATT	0.373																																																1	Substitution - Nonsense(1)	ovary(1)	11											111	103	106					11																	58893255		2201	4295	6496	58649831	SO:0001587	stop_gained	374393			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1685G>A	11.37:g.58893255G>A	ENSP00000341565:p.Trp562*		58649831	B4E2G2|Q6P661	Nonsense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964519	0.53507	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	.	.	.	4.48	-6.86	0.01676	.	0.999489	0.08096	N	0.998554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	2.7921	0.05391	0.541:0.0799:0.12:0.259	.	.	.	.	X	532;532;562	.	ENSP00000341565:W562X	W	+	2	0	FAM111B	58649831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.114000	0.03293	-1.400000	0.02061	-0.262000	0.10625	TGG		0.373	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		A	58893255	G	A	58893255	4	1	284	1	0	0	0	0	0	1	0	0	5400	1357	47	2	1691	2	FAM111B	11	58893255	Nonsense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	2849175	58893255	76113261	66	15720											
MS4A5	64232	broad.mit.edu	37	11	60201280	60201280	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr11:60201280G>A	ENST00000300190.2	+	4	468	c.382G>A	c.(382-384)Gca>Aca	p.A128T	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	128						integral component of membrane (GO:0016021)		p.A128T(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TGCCCTGGGAGCAATAGCTGG	0.368																																																1	Substitution - Missense(1)	ovary(1)	11											170	163	165					11																	60201280		2203	4300	6503	59957856	SO:0001583	missense	64232			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.382G>A	11.37:g.60201280G>A	ENSP00000300190:p.Ala128Thr		59957856	Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681784	0.68042	.	.	ENSG00000166930	ENST00000300190	T	0.03635	3.86	4.08	4.08	0.47627	.	0.063677	0.64402	D	0.000010	T	0.19525	0.0469	M	0.87381	2.88	0.20074	N	0.999937	D	0.89917	1.0	D	0.91635	0.999	T	0.01781	-1.1275	10	0.72032	D	0.01	-4.9826	11.9845	0.53140	0.0:0.0:1.0:0.0	.	128	Q9H3V2	MS4A5_HUMAN	T	128	ENSP00000300190:A128T	ENSP00000300190:A128T	A	+	1	0	MS4A5	59957856	0.973000	0.33851	0.415000	0.26534	0.989000	0.77384	3.874000	0.56101	2.293000	0.77203	0.655000	0.94253	GCA		0.368	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			A	60201280	G	A	60201280	3	1	284	1	0	0	0	0	1	0	0	0	9863	971	34	2	396	2	MS4A5	11	60201280	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	1308025	60201280	74805236	67	15721											
GANAB	23193	broad.mit.edu	37	11	62397885	62397885	+	Silent	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr11:62397885C>G	ENST00000356638.3	-	12	1495	c.1479G>C	c.(1477-1479)cgG>cgC	p.R493R	GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000346178.4_Silent_p.R515R|GANAB_ENST00000540933.1_Silent_p.R396R|GANAB_ENST00000534779.1_Silent_p.R401R	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	493					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.R493R(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CAGAGCCATCCCGGGTTTTAA	0.597																																					Melanoma(23;1005 1074 15747 18937)											1	Substitution - coding silent(1)	ovary(1)	11											52	50	51					11																	62397885		2202	4299	6501	62154461	SO:0001819	synonymous_variant	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1479G>C	11.37:g.62397885C>G			62154461	A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	6.662	0.490700	0.12702	.	.	ENSG00000089597	ENST00000540002	.	.	.	5.83	-2.23	0.06930	.	.	.	.	.	T	0.39064	0.1064	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35599	-0.9782	4	.	.	.	-29.1471	1.3555	0.02181	0.2222:0.3898:0.1087:0.2792	.	.	.	.	R	79	.	.	G	-	1	0	GANAB	62154461	0.034000	0.19679	0.999000	0.59377	0.919000	0.55068	-0.724000	0.04947	0.108000	0.17862	-1.101000	0.02118	GGA		0.597	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		G	62397885	C	G	62397885	2	3	284	1	0	0	0	0	0	0	0	1	6233	610	22	3		3	GANAB	11	62397885	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	2196605	62397885	72608631	68	15722											
LGALS12	85329	broad.mit.edu	37	11	63276301	63276301	+	Silent	SNP	C	C	A	rs12289952	byFrequency	TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr11:63276301C>A	ENST00000394618.3	+	3	567	c.276C>A	c.(274-276)atC>atA	p.I92I	LGALS12_ENST00000255684.5_Silent_p.I92I|LGALS12_ENST00000340246.5_Silent_p.I93I|LGALS12_ENST00000425950.2_Silent_p.I31I|LGALS12_ENST00000415491.2_Silent_p.I31I	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	92	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.I92I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GGCCAGATATCGCCTTCCACT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	11											82	80	80					11																	63276301		2201	4298	6499	63032877	SO:0001819	synonymous_variant	85329			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.276C>A	11.37:g.63276301C>A			63032877	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000394618.3	37	CCDS8045.1																																																																																				0.607	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		A	63276301	C	A	63276301	2	1	284	1	0	0	0	0	0	0	0	1	8739	874	31	3		3	LGALS12	11	63276301	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	878416	63276301	71730215	69	15723											
SF3B2	10992	broad.mit.edu	37	11	65828098	65828098	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr11:65828098C>T	ENST00000322535.6	+	14	1724	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S	SF3B2_ENST00000528302.1_Missense_Mutation_p.P542S	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	559					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.P559S(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAAAGTTCGGCCTAAGATGGG	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											140	124	129					11																	65828098		2201	4295	6496	65584674	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1675C>T	11.37:g.65828098C>T	ENSP00000318861:p.Pro559Ser		65584674	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164379	0.94727	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.82	5.82	0.92795	Domain of unknown function DUF382 (1);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	H	0.96398	3.815	0.80722	D	1	D	0.65815	0.995	D	0.70935	0.971	D	0.90990	0.4834	9	0.87932	D	0	-12.9624	17.5904	0.87994	0.0:1.0:0.0:0.0	.	559	Q13435	SF3B2_HUMAN	S	542;559;463	.	ENSP00000318861:P559S	P	+	1	0	SF3B2	65584674	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.962000	0.76048	2.751000	0.94390	0.650000	0.86243	CCT		0.453	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			T	65828098	C	T	65828098	3	4	284	1	0	0	0	0	1	0	0	0	14154	739	26	2	1729	2	SF3B2	11	65828098	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	2551797	65828098	69178418	70	15724											
DYNC2H1	79659	broad.mit.edu	37	11	103070169	103070169	+	Silent	SNP	A	A	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr11:103070169A>G	ENST00000375735.2	+	49	8196	c.8052A>G	c.(8050-8052)ggA>ggG	p.G2684G	DYNC2H1_ENST00000398093.3_Silent_p.G2684G|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2684	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.G117G(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTCCAGAGGATATGAACTGA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	11											86	78	81					11																	103070169		1880	4127	6007	102575379	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8052A>G	11.37:g.103070169A>G			102575379	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																				0.398	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103070169	A	G	103070169	2	3	284	1	0	0	0	0	0	0	0	1	4846	320	12	4		4	DYNC2H1	11	103070169	Silent	SNP	A	TCGA-25-1313-01A-01W-0492-08	37242071	103070169	31936347	71	15725											
NCAPD2	9918	broad.mit.edu	37	12	6635333	6635333	+	Silent	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr12:6635333C>T	ENST00000315579.5	+	19	3247	c.2448C>T	c.(2446-2448)tgC>tgT	p.C816C	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Silent_p.C771C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	816					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.C816C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGCAGGTGTGCCATGCCATTG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	12											79	77	77					12																	6635333		2203	4300	6503	6505594	SO:0001819	synonymous_variant	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2448C>T	12.37:g.6635333C>T			6505594	D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	CCDS8548.1																																																																																				0.527	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		T	6635333	C	T	6635333	2	4	284	1	0	0	0	0	0	0	0	1	10205	747	26	2		2	NCAPD2	12	6635333	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08		6635333	127216562	72	15726											
CD163L1	283316	broad.mit.edu	37	12	7527226	7527245	+	Frame_Shift_Del	DEL	CACACCACGTGGGCATCGCT	CACACCACGTGGGCATCGCT	-	rs374448838		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	CACACCACGTGGGCATCGCT	CACACCACGTGGGCATCGCT	-	-	CACACCACGTGGGCATCGCT	CACACCACGTGGGCATCGCT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr12:7527226_7527245delCACACCACGTGGGCATCGCT	ENST00000313599.3	-	13	3259_3278	c.3202_3221delAGCGATGCCCACGTGGTGTG	c.(3202-3222)agcgatgcccacgtggtgtgtfs	p.SDAHVVC1068fs	CD163L1_ENST00000416109.2_Frame_Shift_Del_p.SDAHVVC1078fs|CD163L1_ENST00000396630.1_Frame_Shift_Del_p.SDAHVVC1068fs|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1068	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D1069N(1)|p.D1069fs*27(1)|p.S1068S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCTTTTGACACACCACGTGGGCATCGCTCAGGTCCCAG	0.614											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				3	Substitution - Missense(1)|Deletion - Frameshift(1)|Substitution - coding silent(1)	ovary(1)|lung(1)|large_intestine(1)	12																																								7418512	SO:0001589	frameshift_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3202_3221delAGCGATGCCCACGTGGTGTG	12.37:g.7527226_7527245delCACACCACGTGGGCATCGCT	ENSP00000315945:p.Ser1068fs	642	7418493	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Frame_Shift_Del	DEL	ENST00000313599.3	37	CCDS8577.1																																																																																				0.614	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		-	7527245	CACACCACGTGGGCATCGCT	-	7527226	7	5	284	1	0	1	0	1	0	0	0	0	2968	478	17	0	1168	0	CD163L1	12	7527226	Frame_Shift_Del	DEL	CACACCACGTGGGCATCGCT	TCGA-25-1313-01A-01W-0492-08	891893	7527226	126324669	73	15727											
APOLD1	81575	broad.mit.edu	37	12	12940262	12940262	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr12:12940262C>G	ENST00000326765.6	+	2	586	c.516C>G	c.(514-516)ttC>ttG	p.F172L	APOLD1_ENST00000356591.4_Missense_Mutation_p.F141L	NM_001130415.1	NP_001123887.1	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	172					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|endothelial cell activation (GO:0042118)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|regulation of endothelial cell differentiation (GO:0045601)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.F141L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		TCGAGTTTTTCTGCCGCTGGC	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											81	92	89					12																	12940262		2203	4300	6503	12831529	SO:0001583	missense	81575			AL136783	CCDS8654.1, CCDS44833.1	12p13.2	2006-02-03	2006-01-23		ENSG00000178878	ENSG00000178878			25268	protein-coding gene	gene with protein product		612456				11230166	Standard	NM_030817		Approved	FLJ25138, DKFZP434F0318	uc001rau.4	Q96LR9	OTTHUMG00000153561	ENST00000326765.6:c.516C>G	12.37:g.12940262C>G	ENSP00000324277:p.Phe172Leu		12831529	Q8IVR2|Q9H0I5	Missense_Mutation	SNP	ENST00000326765.6	37	CCDS44833.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599008	0.46318	.	.	ENSG00000178878	ENST00000326765;ENST00000356591	T;T	0.01397	4.94;4.94	4.52	2.67	0.31697	.	0.358035	0.27048	U	0.021195	T	0.00906	0.0030	N	0.12182	0.205	0.35151	D	0.7698	B;B	0.24132	0.012;0.098	B;B	0.29077	0.012;0.098	T	0.48811	-0.9002	10	0.11794	T	0.64	-19.4443	4.8157	0.13365	0.162:0.5951:0.0:0.2429	.	141;172	A0AVN6;Q96LR9	.;APLD1_HUMAN	L	172;141	ENSP00000324277:F172L;ENSP00000348998:F141L	ENSP00000324277:F172L	F	+	3	2	APOLD1	12831529	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	0.419000	0.21247	1.254000	0.44035	0.579000	0.79373	TTC		0.622	APOLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331627.1	NM_030817		G	12940262	C	G	12940262	3	3	284	1	0	0	0	0	1	0	0	0	811	912	32	3	529	3	APOLD1	12	12940262	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	5413036	12940262	120911633	74	15728											
PIK3C2G	5288	broad.mit.edu	37	12	18658246	18658246	+	Silent	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr12:18658246C>T	ENST00000266497.5	+	22	3089	c.3051C>T	c.(3049-3051)taC>taT	p.Y1017Y	PIK3C2G_ENST00000433979.1_Silent_p.Y1017Y|PIK3C2G_ENST00000538779.1_Silent_p.Y1058Y			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1017	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.Y1017Y(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACTTTTTCTACTCCTGTGCTG	0.378																																																1	Substitution - coding silent(1)	ovary(1)	12											127	106	113					12																	18658246		1930	4154	6084	18549513	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3051C>T	12.37:g.18658246C>T			18549513	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																				0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18658246	C	T	18658246	2	4	284	1	0	0	0	0	0	0	0	1	11911	576	20	2		2	PIK3C2G	12	18658246	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	5717984	18658246	115193649	75	15729											
IRAK4	51135	broad.mit.edu	37	12	44162071	44162071	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr12:44162071A>G	ENST00000448290.2	+	2	228	c.157A>G	c.(157-159)Ata>Gta	p.I53V	IRAK4_ENST00000431837.1_5'UTR|IRAK4_ENST00000551736.1_Missense_Mutation_p.I53V|IRAK4_ENST00000440781.2_Intron	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	53	Death.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I53V(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TCAGTTTCACATAAGGTAACA	0.308																																																1	Substitution - Missense(1)	ovary(1)	12											48	49	49					12																	44162071		2203	4300	6503	42448338	SO:0001583	missense	51135			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.157A>G	12.37:g.44162071A>G	ENSP00000390651:p.Ile53Val		42448338	Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	9.365	1.069105	0.20147	.	.	ENSG00000198001	ENST00000550616;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T	0.68903	-0.36;-0.36;-0.36	5.5	5.5	0.81552	DEATH-like (2);	0.084306	0.85682	D	0.000000	T	0.53642	0.1809	L	0.35341	1.055	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.49163	-0.8968	10	0.23891	T	0.37	-29.4209	11.3724	0.49708	0.8643:0.0:0.0:0.1357	.	53	Q9NWZ3	IRAK4_HUMAN	V	53	ENSP00000446571:I53V;ENSP00000390651:I53V;ENSP00000446490:I53V	ENSP00000349096:I53V	I	+	1	0	IRAK4	42448338	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.911000	0.48774	2.221000	0.72209	0.528000	0.53228	ATA		0.308	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			G	44162071	A	G	44162071	3	3	284	1	0	0	0	0	1	0	0	0	7825	217	8	4	159	4	IRAK4	12	44162071	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08	25503825	44162071	89689824	76	15730											
TBX5	6910	broad.mit.edu	37	12	114793771	114793771	+	Missense_Mutation	SNP	G	G	A	rs377532269		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr12:114793771G>A	ENST00000310346.4	-	9	1789	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	TBX5_ENST00000405440.2_Missense_Mutation_p.R375W|TBX5_ENST00000349716.5_Missense_Mutation_p.R325W	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	375					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R375W(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAAGCTTGCCGCTGTGCCGAC	0.592																																					NSCLC(152;1358 1980 4050 23898 40356)											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)	12						G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	96	84	88		1123,973,1123	5.3	1	12		88	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	TBX5	NM_000192.3,NM_080717.2,NM_181486.1	101,101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	375/519,325/469,375/519	114793771	2,13004	2203	4300	6503	113278154	SO:0001583	missense	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1123C>T	12.37:g.114793771G>A	ENSP00000309913:p.Arg375Trp		113278154	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979138	0.92982	0.0	2.33E-4	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.53206	0.63;0.63;0.63	5.27	5.27	0.74061	.	0.059422	0.64402	D	0.000001	T	0.71134	0.3304	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.75758	-0.3205	10	0.87932	D	0	.	18.8889	0.92391	0.0:0.0:1.0:0.0	.	375	Q99593	TBX5_HUMAN	W	325;375;272;375	ENSP00000337723:R325W;ENSP00000309913:R375W;ENSP00000384152:R375W	ENSP00000309913:R375W	R	-	1	2	TBX5	113278154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	2.463000	0.83235	0.655000	0.94253	CGG		0.592	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		A	114793771	G	A	114793771	3	1	284	1	0	0	0	0	1	0	0	0	15661	1086	38	1	437	1	TBX5	12	114793771	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	70631700	114793771	19058124	77	15731											
UBAC2	337867	broad.mit.edu	37	13	99966370	99966370	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr13:99966370C>G	ENST00000403766.3	+	5	544	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000376440.2_Missense_Mutation_p.L102V	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	137					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L102V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTGTTTGCTCTGTTTGTACC	0.368																																																1	Substitution - Missense(1)	ovary(1)	13											164	154	158					13																	99966370		2203	4300	6503	98764371	SO:0001583	missense	337867			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"phosphoglycerate dehydrogenase like 1"	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.409C>G	13.37:g.99966370C>G	ENSP00000383911:p.Leu137Val		98764371	B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	ENST00000403766.3	37	CCDS45064.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405211	0.83230	.	.	ENSG00000134882	ENST00000403766;ENST00000376440	T	0.16196	2.36	5.91	5.91	0.95273	.	0.075119	0.56097	D	0.000033	T	0.46444	0.1393	M	0.81239	2.535	0.80722	D	1	D;D;D;P	0.71674	0.998;0.997;0.997;0.953	D;D;D;P	0.66847	0.947;0.921;0.917;0.631	T	0.29941	-0.9995	9	.	.	.	-14.6142	20.3053	0.98627	0.0:1.0:0.0:0.0	.	67;102;137;137	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	V	137;102	ENSP00000383911:L137V	.	L	+	1	2	UBAC2	98764371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.840000	0.55843	2.808000	0.96608	0.655000	0.94253	CTG		0.368	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		G	99966370	C	G	99966370	3	3	284	1	0	0	0	0	1	0	0	0	16835	912	32	3	587	3	UBAC2	13	99966370	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08		99966370	15203508	78	15732											
G2E3	55632	broad.mit.edu	37	14	31081515	31081515	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr14:31081515G>A	ENST00000206595.6	+	13	1757	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	G2E3_ENST00000553504.1_Missense_Mutation_p.D565N|G2E3_ENST00000438909.2_Missense_Mutation_p.D489N	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	535	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D535N(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GACATTAAGTGATAAATATAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	14											91	95	93					14																	31081515		2203	4295	6498	30151266	SO:0001583	missense	55632			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1603G>A	14.37:g.31081515G>A	ENSP00000206595:p.Asp535Asn		30151266	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213278	0.95069	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.37584	1.19;1.19;1.19	5.47	5.47	0.80525	HECT (3);	0.139939	0.64402	D	0.000005	T	0.61413	0.2345	M	0.69823	2.125	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57021	-0.7882	10	0.37606	T	0.19	-25.9718	19.6892	0.95991	0.0:0.0:1.0:0.0	.	47;535	Q49AD9;Q7L622	.;G2E3_HUMAN	N	535;489;565	ENSP00000206595:D535N;ENSP00000391068:D489N;ENSP00000451653:D565N	ENSP00000206595:D535N	D	+	1	0	G2E3	30151266	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.196000	0.89725	2.717000	0.92951	0.555000	0.69702	GAT		0.318	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		A	31081515	G	A	31081515	3	1	284	1	0	0	0	0	1	0	0	0	6140	1290	45	2	1649	2	G2E3	14	31081515	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08		31081515	76268025	79	15733											
EVL	51466	broad.mit.edu	37	14	100603941	100603941	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr14:100603941A>T	ENST00000402714.2	+	10	1589	c.985A>T	c.(985-987)Agc>Tgc	p.S329C	EVL_ENST00000392920.3_Missense_Mutation_p.S331C|EVL_ENST00000544450.2_Missense_Mutation_p.S335C			Q9UI08	EVL_HUMAN	Enah/Vasp-like	329	EVH2.			S -> N (in Ref. 2; AAP97156). {ECO:0000305}.	actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)	p.S331C(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CTGGGAGCGGAGCAACTCGGT	0.622																																																1	Substitution - Missense(1)	ovary(1)	14											68	79	76					14																	100603941		2203	4300	6503	99673694	SO:0001583	missense	51466			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.985A>T	14.37:g.100603941A>T	ENSP00000384720:p.Ser329Cys		99673694	A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37		.	.	.	.	.	.	.	.	.	.	A	25.3	4.619907	0.87460	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000554695	T;T;T;T	0.73575	-0.65;-0.76;-0.67;-0.03	4.73	4.73	0.59995	.	0.226336	0.37623	N	0.002005	D	0.83151	0.5192	L	0.56769	1.78	0.54753	D	0.999983	D;D;D	0.76494	0.999;0.996;0.991	D;P;P	0.77557	0.99;0.855;0.862	D	0.85066	0.0937	10	0.72032	D	0.01	-4.7394	14.2074	0.65744	1.0:0.0:0.0:0.0	.	335;331;329	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	C	329;335;331;294;146	ENSP00000384720:S329C;ENSP00000437904:S335C;ENSP00000376652:S331C;ENSP00000451821:S146C	ENSP00000376652:S331C	S	+	1	0	EVL	99673694	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.978000	0.56881	1.756000	0.51951	0.459000	0.35465	AGC		0.622	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			T	100603941	A	T	100603941	3	4	284	1	0	0	0	0	1	0	0	0	5291	304	11	5	1029	5	EVL	14	100603941	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08	69522426	100603941	6745599	80	15734											
PLA2G4F	255189	broad.mit.edu	37	15	42442046	42442046	+	Splice_Site	SNP	G	G	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr15:42442046G>T	ENST00000382396.4	-	11	1010	c.924C>A	c.(922-924)agC>agA	p.S308R	PLA2G4F_ENST00000397272.3_Splice_Site_p.S308R			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	308	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.S308R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGTCCCCGGAGCTGCCTCAAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	15											59	61	60					15																	42442046		2203	4299	6502	40229338	SO:0001630	splice_region_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.924-1C>A	15.37:g.42442046G>T			40229338	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	7.137	0.580977	0.13686	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.01505	4.82;4.86	4.72	3.79	0.43588	Lysophospholipase, catalytic domain (2);	0.273852	0.30639	N	0.009197	T	0.01800	0.0057	L	0.31752	0.955	0.32154	N	0.583844	B;B	0.18461	0.028;0.028	B;B	0.17433	0.018;0.018	T	0.21655	-1.0239	10	0.22109	T	0.4	.	12.2165	0.54410	0.0:0.1713:0.8287:0.0	.	95;308	A2RRC4;Q68DD2	.;PA24F_HUMAN	R	304;308;308;308;308	ENSP00000380442:S308R;ENSP00000371833:S308R	ENSP00000290497:S304R	S	-	3	2	PLA2G4F	40229338	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	2.003000	0.40844	1.188000	0.43014	0.655000	0.94253	AGC		0.632	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	Missense_Mutation	T	42442046	G	T	42442046	5	4	284	1	0	0	0	0	0	0	1	0	12006	985	34	3	1665	3	PLA2G4F	15	42442046	Splice_Site	SNP	G	TCGA-25-1313-01A-01W-0492-08		42442046	60089346	81	15735											
UBE2Q2	92912	broad.mit.edu	37	15	76191783	76191783	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr15:76191783C>G	ENST00000267938.4	+	13	1494	c.1112C>G	c.(1111-1113)cCa>cGa	p.P371R	UBE2Q2_ENST00000338677.4_Silent_p.S300S|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.P336R|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.P355R	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	371					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.P371R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TACACCCCTCCAAAGGAAGAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	15											109	100	103					15																	76191783		2197	4294	6491	73978838	SO:0001583	missense	92912			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"Ubiquitin-conjugating enzymes E2"	19248	protein-coding gene	gene with protein product		612501	"ubiquitin-conjugating enzyme E2Q (putative) 2"			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.1112C>G	15.37:g.76191783C>G	ENSP00000267938:p.Pro371Arg		73978838	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	ENST00000267938.4	37	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125302	0.77436	.	.	ENSG00000140367	ENST00000267938;ENST00000426727	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	M	0.80508	2.5	0.80722	D	1	P;P;D	0.53462	0.894;0.93;0.96	B;P;B	0.52881	0.403;0.712;0.403	T	0.79137	-0.1927	9	0.87932	D	0	.	19.4072	0.94653	0.0:1.0:0.0:0.0	.	355;355;371	E9PHD0;B7Z3Q2;Q8WVN8	.;.;UB2Q2_HUMAN	R	371;355	.	ENSP00000267938:P371R	P	+	2	0	UBE2Q2	73978838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.215000	0.65241	2.832000	0.97577	0.650000	0.86243	CCA		0.338	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		G	76191783	C	G	76191783	3	3	284	1	0	0	0	0	1	0	0	0	16870	594	21	3	1298	3	UBE2Q2	15	76191783	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	33749737	76191783	26339609	82	15736											
UNC45A	55898	broad.mit.edu	37	15	91492645	91492645	+	Missense_Mutation	SNP	A	A	G	rs371695364		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr15:91492645A>G	ENST00000418476.2	+	14	2018	c.1978A>G	c.(1978-1980)Acc>Gcc	p.T660A	UNC45A_ENST00000394275.2_Missense_Mutation_p.T645A|AC068831.6_ENST00000553321.1_RNA	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	660					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.T660A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCCTGTGCTGACCAGTTCCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	15											67	50	56					15																	91492645		2198	4298	6496	89293649	SO:0001583	missense	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1978A>G	15.37:g.91492645A>G	ENSP00000407487:p.Thr660Ala		89293649	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.127152	0.77549	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.69040	-0.37;-0.37	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.68952	2.095	0.58432	D	0.999998	P;P	0.49253	0.921;0.921	B;B	0.42882	0.401;0.401	T	0.71981	-0.4428	10	0.51188	T	0.08	-35.3869	15.4317	0.75105	1.0:0.0:0.0:0.0	.	660;645	Q9H3U1;A8K6F7	UN45A_HUMAN;.	A	645;660	ENSP00000377816:T645A;ENSP00000407487:T660A	ENSP00000377816:T645A	T	+	1	0	UNC45A	89293649	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	9.042000	0.93793	2.230000	0.72887	0.529000	0.55759	ACC		0.622	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		G	91492645	A	G	91492645	3	3	284	1	0	0	0	0	1	0	0	0	16988	275	10	4	2032	4	UNC45A	15	91492645	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08	15300862	91492645	11038747	83	15737											
KIFC3	3801	broad.mit.edu	37	16	57799531	57799531	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr16:57799531C>T	ENST00000379655.4	-	11	1609	c.1352G>A	c.(1351-1353)cGt>cAt	p.R451H	KIFC3_ENST00000543930.1_Missense_Mutation_p.R312H|KIFC3_ENST00000562903.1_Missense_Mutation_p.R312H|KIFC3_ENST00000465878.2_Missense_Mutation_p.R312H|KIFC3_ENST00000445690.2_Missense_Mutation_p.R451H|KIFC3_ENST00000421376.2_Missense_Mutation_p.R312H|KIFC3_ENST00000539578.1_Missense_Mutation_p.R393H|KIFC3_ENST00000540079.2_Missense_Mutation_p.R349H|KIFC3_ENST00000541240.1_Missense_Mutation_p.R473H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	451	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R451H(1)		breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TGGCCGGACACGAGCAATCAC	0.577																																																1	Substitution - Missense(1)	ovary(1)	16											119	76	91					16																	57799531		2198	4300	6498	56357032	SO:0001583	missense	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1352G>A	16.37:g.57799531C>T	ENSP00000368976:p.Arg451His		56357032	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474732	0.63737	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.4	4.44	0.53790	Kinesin, motor domain (4);	0.112377	0.64402	D	0.000008	D	0.89093	0.6617	H	0.96720	3.87	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.92507	0.6013	10	0.87932	D	0	.	14.5796	0.68278	0.1471:0.8529:0.0:0.0	.	473;393;312;349;156;451;312	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	H	451;451;312;473;349;312;393	ENSP00000368976:R451H;ENSP00000401696:R451H;ENSP00000396399:R312H;ENSP00000442008:R473H;ENSP00000438805:R349H;ENSP00000444012:R312H;ENSP00000444884:R393H	ENSP00000368976:R451H	R	-	2	0	KIFC3	56357032	1.000000	0.71417	0.980000	0.43619	0.021000	0.10359	7.616000	0.83018	1.271000	0.44313	-0.182000	0.12963	CGT		0.577	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		T	57799531	C	T	57799531	3	4	284	1	0	0	0	0	1	0	0	0	8314	536	19	1	1194	1	KIFC3	16	57799531	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08		57799531	32555222	84	15738											
ZFP1	162239	broad.mit.edu	37	16	75203858	75203858	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr16:75203858A>T	ENST00000393430.2	+	4	974	c.850A>T	c.(850-852)Acc>Tcc	p.T284S	ZFP1_ENST00000570010.1_Missense_Mutation_p.T284S|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.T251S			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	284					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.T284S(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						GTTTGAACTCACCACACACCA	0.423																																					NSCLC(187;1429 2122 10143 20357 42217)											1	Substitution - Missense(1)	ovary(1)	16											72	72	72					16																	75203858		2198	4300	6498	73761359	SO:0001583	missense	162239			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"Zinc fingers, C2H2-type", "-"	23328	protein-coding gene	gene with protein product			"zinc finger protein 1 homolog (mouse)", "zinc finger protein 1"			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.850A>T	16.37:g.75203858A>T	ENSP00000377080:p.Thr284Ser		73761359	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	A	12.89	2.073111	0.36566	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.07216	3.21	4.64	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000134	T	0.05181	0.0138	N	0.13168	0.305	0.80722	D	1	B	0.31125	0.309	B	0.30943	0.122	T	0.48375	-0.9041	10	0.32370	T	0.25	-19.09	9.961	0.41697	0.8292:0.1708:0.0:0.0	.	284	Q6P2D0	ZFP1_HUMAN	S	284	ENSP00000377080:T284S	ENSP00000333192:T284S	T	+	1	0	ZFP1	73761359	0.003000	0.15002	1.000000	0.80357	0.989000	0.77384	2.227000	0.42972	1.067000	0.40740	0.533000	0.62120	ACC		0.423	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688		T	75203858	A	T	75203858	3	4	284	1	0	0	0	0	1	0	0	0	17636	159	6	5	860	5	ZFP1	16	75203858	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08	17404327	75203858	15150895	85	15739											
TP53	7157	broad.mit.edu	37	17	7578496	7578496	+	Missense_Mutation	SNP	A	A	C	rs587782197		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr17:7578496A>C	ENST00000269305.4	-	5	623	c.434T>G	c.(433-435)cTg>cGg	p.L145R	TP53_ENST00000455263.2_Missense_Mutation_p.L145R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.L145R|TP53_ENST00000445888.2_Missense_Mutation_p.L145R|TP53_ENST00000420246.2_Missense_Mutation_p.L145R|TP53_ENST00000359597.4_Missense_Mutation_p.L145R	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	145	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(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)	ATCAACCCACAGCTGCACAGG	0.602		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"	57	Substitution - Missense(41)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	breast(11)|ovary(9)|large_intestine(7)|central_nervous_system(5)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|stomach(2)|urinary_tract(2)|liver(2)|prostate(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	17											57	57	57					17																	7578496		2203	4300	6503	7519221	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.434T>G	17.37:g.7578496A>C	ENSP00000269305:p.Leu145Arg		7519221	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	.	.	.	.	.	.	.	.	.	.	A	16.01	3.002053	0.54254	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.153372	0.45361	D	0.000370	D	0.99736	0.9896	M	0.71581	2.175	0.51767	D	0.999938	D;P;D;D;P;D;D	0.89917	1.0;0.903;0.996;1.0;0.933;0.979;1.0	D;P;D;D;D;D;D	0.85130	0.997;0.858;0.955;0.997;0.935;0.935;0.996	D	0.97018	0.9741	10	0.87932	D	0	-1.0943	13.8301	0.63375	1.0:0.0:0.0:0.0	.	106;145;145;52;145;145;145	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	145;145;145;145;145;145;134;52;13;52;13;145	ENSP00000410739:L145R;ENSP00000352610:L145R;ENSP00000269305:L145R;ENSP00000398846:L145R;ENSP00000391127:L145R;ENSP00000391478:L145R;ENSP00000425104:L13R;ENSP00000423862:L52R;ENSP00000424104:L145R	ENSP00000269305:L145R	L	-	2	0	TP53	7519221	1.000000	0.71417	0.420000	0.26596	0.013000	0.08279	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	CTG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578496	A	C	7578496	3	2	284	1	0	0	0	0	1	0	0	0	16381	188	7	5	864	5	TP53	17	7578496	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08		7578496	73616714	86	15740											
GLP2R	9340	broad.mit.edu	37	17	9791266	9791266	+	Silent	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr17:9791266G>A	ENST00000262441.5	+	12	1815	c.1302G>A	c.(1300-1302)ttG>ttA	p.L434L	GLP2R_ENST00000574745.1_Silent_p.L254L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	434					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.L434L(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TGGTGGCCTTGCAGTATGGTT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	17											333	281	299					17																	9791266		2203	4300	6503	9731991	SO:0001819	synonymous_variant	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1302G>A	17.37:g.9791266G>A			9731991	Q4VAT3	Silent	SNP	ENST00000262441.5	37	CCDS11150.1																																																																																				0.507	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			A	9791266	G	A	9791266	2	1	284	1	0	0	0	0	0	0	0	1	6453	1310	46	2		2	GLP2R	17	9791266	Silent	SNP	G	TCGA-25-1313-01A-01W-0492-08	2212770	9791266	71403944	87	15741											
KIAA0100	9703	broad.mit.edu	37	17	26962195	26962195	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr17:26962195T>A	ENST00000528896.2	-	16	2484	c.2410A>T	c.(2410-2412)Aac>Tac	p.N804Y	RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.N661Y|KIAA0100_ENST00000544884.1_Missense_Mutation_p.N661Y	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	804						extracellular region (GO:0005576)		p.N804Y(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGGAAGGGGTTCCGGTGGAGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											98	114	108					17																	26962195		2203	4300	6503	23986322	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2410A>T	17.37:g.26962195T>A	ENSP00000436773:p.Asn804Tyr		23986322	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088497	0.36855	.	.	ENSG00000007202	ENST00000005905;ENST00000528896;ENST00000544884	T;T	0.24151	1.87;1.88	5.89	5.89	0.94794	.	0.272591	0.44285	D	0.000467	T	0.18425	0.0442	L	0.60455	1.87	0.33063	D	0.534406	P	0.46277	0.875	B	0.31751	0.135	T	0.41945	-0.9480	10	0.37606	T	0.19	.	5.71	0.17929	0.1413:0.1083:0.0:0.7505	.	804	Q14667	K0100_HUMAN	Y	804;804;661	ENSP00000436773:N804Y;ENSP00000446443:N661Y	ENSP00000005905:N804Y	N	-	1	0	KIAA0100	23986322	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.069000	0.41481	2.252000	0.74401	0.455000	0.32223	AAC		0.542	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		A	26962195	T	A	26962195	3	1	284	1	0	0	0	0	1	0	0	0	8154	1783	62	5	4393	5	KIAA0100	17	26962195	Missense_Mutation	SNP	T	TCGA-25-1313-01A-01W-0492-08	17170929	26962195	54233015	88	15742											
EPB41L3	23136	broad.mit.edu	37	18	5406870	5406870	+	Missense_Mutation	SNP	G	G	A	rs139317911	byFrequency	TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr18:5406870G>A	ENST00000341928.2	-	16	2595	c.2255C>T	c.(2254-2256)aCg>aTg	p.T752M	EPB41L3_ENST00000400111.3_Missense_Mutation_p.T571M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T583M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T571M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T24M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T752M|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T24M	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	752	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T752M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCATTCATTCGTTACGGCAGT	0.502																																																1	Substitution - Missense(1)	ovary(1)	18						G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	202	161	175		2255	4.8	0.1	18	dbSNP_134	175	0,8600		0,0,4300	yes	missense	EPB41L3	NM_012307.2	81	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	752/1088	5406870	3,13003	2203	4300	6503	5396870	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2255C>T	18.37:g.5406870G>A	ENSP00000343158:p.Thr752Met		5396870	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	4.523	0.097121	0.08681	6.81E-4	0.0	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;D;T;T;T;D	0.82526	-1.43;-1.59;-0.05;-0.07;-1.43;-1.62	5.78	4.85	0.62838	SAB (1);	0.456856	0.26987	N	0.021490	D	0.85375	0.5682	L	0.36672	1.1	0.09310	N	1	D;B;P;B;B;D;B;D	0.89917	1.0;0.213;0.579;0.437;0.016;0.993;0.075;0.999	D;B;B;B;B;P;B;D	0.85130	0.997;0.081;0.14;0.15;0.016;0.817;0.066;0.912	T	0.76669	-0.2874	10	0.59425	D	0.04	.	9.2809	0.37727	0.0815:0.1408:0.7777:0.0	.	583;24;24;144;462;571;752;24	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	M	752;462;583;462;24;24;752;571	ENSP00000343158:T752M;ENSP00000441174:T583M;ENSP00000392195:T24M;ENSP00000442233:T24M;ENSP00000341138:T752M;ENSP00000382981:T571M	ENSP00000343158:T752M	T	-	2	0	EPB41L3	5396870	0.199000	0.23386	0.064000	0.19789	0.118000	0.20060	2.907000	0.48743	1.328000	0.45358	0.655000	0.94253	ACG		0.502	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5406870	G	A	5406870	3	1	284	1	0	0	0	0	1	0	0	0	5154	1145	40	1	1036	1	EPB41L3	18	5406870	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08		5406870	72670378	89	15743											
KIAA1012	22878	broad.mit.edu	37	18	29435655	29435655	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr18:29435655G>C	ENST00000283351.4	-	21	3639	c.3304C>G	c.(3304-3306)Cta>Gta	p.L1102V	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.L1048V	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1102					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.L1102V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACAAAGACTAGCATATTGCCT	0.358																																																1	Substitution - Missense(1)	ovary(1)	18											109	107	108					18																	29435655		2203	4300	6503	27689653	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3304C>G	18.37:g.29435655G>C	ENSP00000283351:p.Leu1102Val		27689653	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274608	0.23307	.	.	ENSG00000153339	ENST00000283351	T	0.18338	2.22	5.61	3.58	0.41010	.	0.153050	0.45606	D	0.000358	T	0.11665	0.0284	L	0.38175	1.15	0.80722	D	1	B	0.16802	0.019	B	0.24848	0.056	T	0.16837	-1.0389	10	0.26408	T	0.33	.	3.3714	0.07222	0.1663:0.1315:0.5672:0.135	.	1102	Q9Y2L5	TPPC8_HUMAN	V	1102	ENSP00000283351:L1102V	ENSP00000283351:L1102V	L	-	1	2	TRAPPC8	27689653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.893000	0.39758	0.661000	0.30985	0.585000	0.79938	CTA		0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		C	29435655	G	C	29435655	3	2	284	1	0	0	0	0	1	0	0	0	8204	962	34	3	1039	3	KIAA1012	18	29435655	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	24028785	29435655	48641593	90	15744											
HPN	3249	broad.mit.edu	37	19	35556531	35556531	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr19:35556531C>G	ENST00000262626.2	+	11	1821	c.996C>G	c.(994-996)atC>atG	p.I332M	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.I332M|HPN_ENST00000597419.1_Missense_Mutation_p.I174M	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	332	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.I332M(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GAAACCAGATCAAGCCCAAGA	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											74	73	74					19																	35556531		2203	4300	6503	40248371	SO:0001583	missense	3249				CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.996C>G	19.37:g.35556531C>G	ENSP00000262626:p.Ile332Met		40248371	B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.059998	0.76074	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.90069	-2.61;-2.61	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.054494	0.64402	D	0.000001	D	0.93210	0.7837	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.87578	0.966;0.989;0.998	D	0.93267	0.6648	10	0.72032	D	0.01	.	10.0916	0.42449	0.0:0.9085:0.0:0.0915	.	304;332;332	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	M	332;332;304	ENSP00000262626:I332M;ENSP00000376060:I332M	ENSP00000262626:I332M	I	+	3	3	HPN	40248371	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.109000	0.50345	2.525000	0.85131	0.556000	0.70494	ATC		0.612	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		G	35556531	C	G	35556531	3	3	284	1	0	0	0	0	1	0	0	0	7336	816	29	3	1034	3	HPN	19	35556531	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08		35556531	23572452	91	15745											
SPTBN4	57731	broad.mit.edu	37	19	41003432	41003432	+	Silent	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr19:41003432C>T	ENST00000352632.3	+	7	791	c.705C>T	c.(703-705)tcC>tcT	p.S235S	SPTBN4_ENST00000598249.1_Silent_p.S235S|SPTBN4_ENST00000344104.3_Silent_p.S235S|SPTBN4_ENST00000338932.3_Silent_p.S235S|SPTBN4_ENST00000595535.1_Silent_p.S235S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	235	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S235S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCACCAAGTCCAATGCCAACT	0.652																																																1	Substitution - coding silent(1)	ovary(1)	19											107	89	95					19																	41003432		2203	4300	6503	45695272	SO:0001819	synonymous_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.705C>T	19.37:g.41003432C>T			45695272	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																				0.652	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41003432	C	T	41003432	2	4	284	1	0	0	0	0	0	0	0	1	15123	581	21	2		2	SPTBN4	19	41003432	Silent	SNP	C	TCGA-25-1313-01A-01W-0492-08	5446901	41003432	18125551	92	15746											
PROKR2	128674	broad.mit.edu	37	20	5294763	5294763	+	Missense_Mutation	SNP	G	G	A	rs141090506	byFrequency	TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr20:5294763G>A	ENST00000217270.3	-	1	252	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	PROKR2_ENST00000546004.1_Missense_Mutation_p.R85C	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	85			R -> C (in HH3; uncertain pathological significance). {ECO:0000269|PubMed:17054399}.|R -> H (in HH3; phenotype consistent with Kallmann syndrome; dbSNP:rs74315418). {ECO:0000269|PubMed:17054399}.		circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R85C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GTGAGGTTGCGCAACTTCTTA	0.547										HNSCC(71;0.22)			G|||	3	0.000599042	8e-04	0.0014	5008	,	,		22073	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	20	GRCh37	CM083840	PROKR2	M	rs141090506						191	149	163					20																	5294763		2203	4300	6503	5242763	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.253C>T	20.37:g.5294763G>A	ENSP00000217270:p.Arg85Cys		5242763	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809204	0.70797	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.46063	0.88;0.88	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80455	-0.1375	10	0.87932	D	0	.	10.8357	0.46685	0.0:0.0:0.8114:0.1886	.	85	Q8NFJ6	PKR2_HUMAN	C	85	ENSP00000440790:R85C;ENSP00000217270:R85C	ENSP00000217270:R85C	R	-	1	0	PROKR2	5242763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.002000	0.49496	2.347000	0.79759	0.655000	0.94253	CGC		0.547	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		A	5294763	G	A	5294763	3	1	284	1	0	0	0	0	1	0	0	0	12556	1087	38	1	908	1	PROKR2	20	5294763	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08		5294763	57730757	93	15747											
PLCB1	23236	broad.mit.edu	37	20	8705336	8705336	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr20:8705336G>A	ENST00000338037.6	+	16	1642	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E539K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.E539K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	539					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.E539K(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGCCACAGAAGAAATGTCTAA	0.388																																																1	Substitution - Missense(1)	ovary(1)	20											73	78	76					20																	8705336		2203	4300	6503	8653336	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1615G>A	20.37:g.8705336G>A	ENSP00000338185:p.Glu539Lys		8653336	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	34	5.315316	0.95655	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.69175	-0.38;-0.38;-0.38	5.29	5.29	0.74685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (1);	0.000000	0.85682	D	0.000000	D	0.85431	0.5695	M	0.93375	3.41	0.80722	D	1	P;D	0.59767	0.856;0.986	P;P	0.60236	0.53;0.871	D	0.89090	0.3482	10	0.72032	D	0.01	.	19.2977	0.94129	0.0:0.0:1.0:0.0	.	539;539	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	539;539;539;459;459	ENSP00000367908:E539K;ENSP00000338185:E539K;ENSP00000367904:E539K	ENSP00000338185:E539K	E	+	1	0	PLCB1	8653336	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.869000	0.99810	2.627000	0.88993	0.563000	0.77884	GAA		0.388	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			A	8705336	G	A	8705336	3	1	284	1	0	0	0	0	1	0	0	0	12027	943	33	2	1677	2	PLCB1	20	8705336	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	3410573	8705336	54320184	94	15748											
TMPRSS15	5651	broad.mit.edu	37	21	19725330	19725330	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr21:19725330C>A	ENST00000284885.3	-	10	1094	c.1061G>T	c.(1060-1062)tGt>tTt	p.C354F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	354	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.C354F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GACCCAGAAACAAAAGCCATC	0.333																																																1	Substitution - Missense(1)	ovary(1)	21											80	84	83					21																	19725330		2203	4300	6503	18647201	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1061G>T	21.37:g.19725330C>A	ENSP00000284885:p.Cys354Phe		18647201	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911554	0.72983	.	.	ENSG00000154646	ENST00000284885	T	0.13538	2.58	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	H	0.97874	4.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.74432	-0.3667	9	.	.	.	.	18.0723	0.89413	0.0:1.0:0.0:0.0	.	354	P98073	ENTK_HUMAN	F	354	ENSP00000284885:C354F	.	C	-	2	0	TMPRSS15	18647201	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.162000	0.71874	2.572000	0.86782	0.655000	0.94253	TGT		0.333	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19725330	C	A	19725330	3	1	284	1	0	0	0	0	1	0	0	0	16246	478	17	3	2062	3	TMPRSS15	21	19725330	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08		19725330	28404565	95	15749											
MORC3	23515	broad.mit.edu	37	21	37736535	37736535	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr21:37736535C>G	ENST00000400485.1	+	14	1673	c.1597C>G	c.(1597-1599)Cag>Gag	p.Q533E	MORC3_ENST00000487909.1_3'UTR|AP000692.9_ENST00000397184.2_RNA	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	533					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.Q533E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGTTCCACCTCAGTCTGAACC	0.393																																																1	Substitution - Missense(1)	ovary(1)	21											69	61	63					21																	37736535		1858	4104	5962	36658405	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1597C>G	21.37:g.37736535C>G	ENSP00000383333:p.Gln533Glu		36658405	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	1.387	-0.581959	0.03827	.	.	ENSG00000159256	ENST00000400485	T	0.13089	2.62	5.38	4.49	0.54785	.	0.619622	0.16181	N	0.225824	T	0.11922	0.0290	L	0.44542	1.39	0.22213	N	0.999283	B	0.15473	0.013	B	0.15052	0.012	T	0.32955	-0.9887	10	0.06757	T	0.87	-1.1926	13.7461	0.62876	0.0:0.8465:0.1535:0.0	.	533	Q14149	MORC3_HUMAN	E	533	ENSP00000383333:Q533E	ENSP00000383333:Q533E	Q	+	1	0	MORC3	36658405	0.999000	0.42202	0.654000	0.29608	0.036000	0.12997	2.646000	0.46630	1.378000	0.46305	0.561000	0.74099	CAG		0.393	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		G	37736535	C	G	37736535	3	3	284	1	0	0	0	0	1	0	0	0	9703	827	29	3	1651	3	MORC3	21	37736535	Missense_Mutation	SNP	C	TCGA-25-1313-01A-01W-0492-08	18011205	37736535	10393360	96	15750											
GAB4	128954	broad.mit.edu	37	22	17445730	17445730	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr22:17445730A>T	ENST00000400588.1	-	8	1509	c.1402T>A	c.(1402-1404)Tcc>Acc	p.S468T	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	468								p.S468T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGTGTTGGGAGGAGCTGGAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	22											138	148	145					22																	17445730		2187	4293	6480	15825730	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1402T>A	22.37:g.17445730A>T	ENSP00000383431:p.Ser468Thr		15825730		Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913963	0.33815	.	.	ENSG00000215568	ENST00000400588	T	0.25085	1.82	1.96	1.96	0.26148	.	0.254391	0.40302	N	0.001138	T	0.34395	0.0896	L	0.46157	1.445	0.42629	D	0.993376	D	0.63880	0.993	D	0.68192	0.956	T	0.08932	-1.0698	10	0.20519	T	0.43	.	7.8586	0.29497	1.0:0.0:0.0:0.0	.	468	Q2WGN9	GAB4_HUMAN	T	468	ENSP00000383431:S468T	ENSP00000383431:S468T	S	-	1	0	GAB4	15825730	1.000000	0.71417	0.988000	0.46212	0.047000	0.14425	3.516000	0.53436	1.144000	0.42321	0.332000	0.21555	TCC		0.587	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		T	17445730	A	T	17445730	3	4	284	1	0	0	0	0	1	0	0	0	6151	304	11	5	334	5	GAB4	22	17445730	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08		17445730	33858836	97	15751											
RAB36	9609	broad.mit.edu	37	22	23492252	23492252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chr22:23492252G>A	ENST00000263116.2	+	3	310	c.270G>A	c.(268-270)tgG>tgA	p.W90*	RAB36_ENST00000341989.4_Nonsense_Mutation_p.W90*	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	90					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.W90*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CTTTGCAGTGGTACACGCCGG	0.607																																																1	Substitution - Nonsense(1)	ovary(1)	22											80	68	72					22																	23492252		2202	4300	6502	21822252	SO:0001587	stop_gained	9609			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.270G>A	22.37:g.23492252G>A	ENSP00000263116:p.Trp90*		21822252	Q2M390|Q7Z4A9|Q9UHP5	Nonsense_Mutation	SNP	ENST00000263116.2	37	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	37	6.008742	0.97195	.	.	ENSG00000100228	ENST00000263116;ENST00000341989;ENST00000418881	.	.	.	5.16	4.13	0.48395	.	0.131189	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-12.5406	7.5424	0.27746	0.0885:0.1693:0.7421:0.0	.	.	.	.	X	90;90;51	.	ENSP00000263116:W90X	W	+	3	0	RAB36	21822252	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.977000	0.29475	1.311000	0.45024	0.561000	0.74099	TGG		0.607	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		A	23492252	G	A	23492252	4	1	284	1	0	0	0	0	0	1	0	0	12929	1270	44	2	280	2	RAB36	22	23492252	Nonsense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	6046522	23492252	27812314	98	15752											
MORC4	79710	broad.mit.edu	37	X	106229431	106229431	+	Splice_Site	SNP	C	C	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chrX:106229431C>T	ENST00000355610.4	-	4	583		c.e4-1		MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Splice_Site	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4							nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.?(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AAAGCCAAAGCTGCAATTACA	0.393																																																1	Unknown(1)	ovary(1)	X											77	72	73					X																	106229431		1827	4065	5892	106116087	SO:0001630	splice_region_variant	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.309-1G>A	X.37:g.106229431C>T			106116087	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Splice_Site	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148006	0.78001	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.875	0.79154	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC4	106116087	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.488000	0.81441	2.565000	0.86533	0.600000	0.82982	.		0.393	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	Intron	T	106229431	C	T	106229431	5	4	284	1	0	0	0	0	0	0	1	0	9704	811	28	2	2561	2	MORC4	23	106229431	Splice_Site	SNP	C	TCGA-25-1313-01A-01W-0492-08		106229431	49041129	99	15753											
PAK3	5063	broad.mit.edu	37	X	110459766	110459766	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chrX:110459766T>C	ENST00000372010.1	+	18	2012	c.1570T>C	c.(1570-1572)Tct>Cct	p.S524P	PAK3_ENST00000360648.4_Missense_Mutation_p.S545P|PAK3_ENST00000425146.1_Missense_Mutation_p.S509P|PAK3_ENST00000262836.4_Missense_Mutation_p.S524P|PAK3_ENST00000518291.1_Missense_Mutation_p.S545P|PAK3_ENST00000519681.1_Missense_Mutation_p.S530P|PAK3_ENST00000372007.5_Missense_Mutation_p.S509P|PAK3_ENST00000446737.1_Missense_Mutation_p.S509P|PAK3_ENST00000417227.1_Missense_Mutation_p.S530P			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	524	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S509P(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGCGAGGATCTGCCAAGGA	0.438										TSP Lung(19;0.15)																																						1	Substitution - Missense(1)	ovary(1)	X											129	120	123					X																	110459766		2203	4300	6503	110346422	SO:0001583	missense	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1570T>C	X.37:g.110459766T>C	ENSP00000361080:p.Ser524Pro		110346422	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751392	0.69533	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.54	4.34	0.51931	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	0.75708	0.3886	L	0.51914	1.62	0.58432	D	0.999999	D;P;D;D;D	0.67145	0.995;0.875;0.996;0.995;0.996	D;P;D;D;D	0.72625	0.962;0.817;0.978;0.962;0.978	T	0.76242	-0.3031	10	0.87932	D	0	.	11.8016	0.52130	0.0:0.0:0.145:0.855	.	530;545;524;509;524	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	P	509;509;524;530;509;545;545;530;524	ENSP00000410853:S509P;ENSP00000401982:S509P;ENSP00000361080:S524P;ENSP00000429113:S530P;ENSP00000361077:S509P;ENSP00000428921:S545P;ENSP00000353864:S545P;ENSP00000389172:S530P;ENSP00000262836:S524P	ENSP00000262836:S524P	S	+	1	0	PAK3	110346422	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	2.420000	0.44679	0.721000	0.32231	0.427000	0.28365	TCT		0.438	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		C	110459766	T	C	110459766	3	2	284	1	0	0	0	0	1	0	0	0	11402	1435	50	4	1691	4	PAK3	23	110459766	Missense_Mutation	SNP	T	TCGA-25-1313-01A-01W-0492-08	4230335	110459766	44810794	100	15754											
TKTL1	8277	broad.mit.edu	37	X	153549204	153549204	+	Missense_Mutation	SNP	G	G	C	rs201125069		TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chrX:153549204G>C	ENST00000369915.3	+	8	1319	c.1130G>C	c.(1129-1131)gGa>gCa	p.G377A	TKTL1_ENST00000369912.2_Missense_Mutation_p.G321A|TKTL1_ENST00000217905.7_Missense_Mutation_p.G117A	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	377					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.G377A(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCCGGATAGGAGGCCTCGCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											262	199	220					X																	153549204		2203	4300	6503	153202398	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1130G>C	X.37:g.153549204G>C	ENSP00000358931:p.Gly377Ala		153202398	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.044787	0.00398	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	T;T;T	0.37058	1.22;1.22;1.22	4.82	3.0	0.34707	Transketolase-like, pyrimidine-binding domain (2);	0.121411	0.53938	N	0.000042	T	0.18923	0.0454	N	0.04820	-0.15	0.54753	D	0.999984	B;P;P	0.35807	0.033;0.522;0.522	B;B;B	0.41946	0.035;0.371;0.371	T	0.05649	-1.0872	10	0.12766	T	0.61	-12.7183	8.3532	0.32314	0.0903:0.1534:0.7563:0.0	.	117;371;377	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	A	377;321;117;321	ENSP00000358931:G377A;ENSP00000217905:G117A;ENSP00000358928:G321A	ENSP00000217905:G117A	G	+	2	0	TKTL1	153202398	0.984000	0.35163	0.019000	0.16419	0.050000	0.14768	1.866000	0.39489	0.431000	0.26258	0.436000	0.28706	GGA		0.522	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		C	153549204	G	C	153549204	3	2	284	1	0	0	0	0	1	0	0	0	15935	1174	41	3	1160	3	TKTL1	23	153549204	Missense_Mutation	SNP	G	TCGA-25-1313-01A-01W-0492-08	43089438	153549204	1721356	101	15755											
F8	2157	broad.mit.edu	37	X	154227760	154227760	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1313-01A-01W-0492-08	TCGA-25-1313-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	500e327c-04ed-470b-9385-5cc070030525	bd93f362-b23a-41b7-8ad4-478cf8b18c95	g.chrX:154227760A>T	ENST00000360256.4	-	2	459	c.259T>A	c.(259-261)Tgg>Agg	p.W87R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	87	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.W87R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTACCCATCCAGGGTGGCCTT	0.388																																																2	Substitution - Missense(2)	ovary(2)	X											138	121	126					X																	154227760		2203	4300	6503	153880954	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.259T>A	X.37:g.154227760A>T	ENSP00000353393:p.Trp87Arg		153880954	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732019	0.48939	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99113	-5.44;-5.44;-5.44	5.01	5.01	0.66863	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.88512	2.96	0.36783	D	0.884461	D;D	0.89917	0.991;1.0	D;D	0.91635	0.931;0.999	D	0.99948	1.1503	10	0.72032	D	0.01	-6.2382	10.1198	0.42614	1.0:0.0:0.0:0.0	.	52;87	B1B0G8;P00451	.;FA8_HUMAN	R	87;52;81	ENSP00000353393:W87R;ENSP00000409446:W52R;ENSP00000389153:W81R	ENSP00000353393:W87R	W	-	1	0	F8	153880954	1.000000	0.71417	0.991000	0.47740	0.359000	0.29487	5.610000	0.67668	1.654000	0.50703	0.242000	0.17961	TGG		0.388	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			T	154227760	A	T	154227760	3	4	284	1	0	0	0	0	1	0	0	0	5350	188	7	5	6924	5	F8	23	154227760	Missense_Mutation	SNP	A	TCGA-25-1313-01A-01W-0492-08	678556	154227760	1042800	102	15756											
SPOCD1	90853	genome.wustl.edu	37	1	32280492	32280492	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr1:32280492G>T	ENST00000360482.2	-	2	572	c.443C>A	c.(442-444)gCc>gAc	p.A148D	SPOCD1_ENST00000533231.1_Missense_Mutation_p.A148D|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A148D|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	148					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.A148D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTCCCTGCAGGCCAGAGCTCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											64	71	69					1																	32280492		2203	4300	6503	32053079	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.443C>A	1.37:g.32280492G>T	ENSP00000353670:p.Ala148Asp		32053079	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	g	9.218	1.032722	0.19590	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.33654	1.86;1.4;1.85	3.08	-0.563	0.11778	.	.	.	.	.	T	0.17959	0.0431	N	0.08118	0	0.09310	N	1	B;B	0.25105	0.118;0.072	B;B	0.24541	0.054;0.024	T	0.20672	-1.0268	9	0.87932	D	0	-0.1822	7.1848	0.25793	0.6102:0.0:0.3898:0.0	.	148;148	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	D	148	ENSP00000353670:A148D;ENSP00000362752:A148D;ENSP00000435851:A148D	ENSP00000353670:A148D	A	-	2	0	SPOCD1	32053079	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.433000	0.06948	-0.438000	0.07232	-1.048000	0.02349	GCC		0.582	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		T	32280492	G	T	32280492	3	4	285	1	0	0	0	0	1	0	0	0	15080	1203	42	3	3267	3	SPOCD1	1	32280492	Missense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09		32280492	216970129	1	15757											
ZMYM6	9204	genome.wustl.edu	37	1	35454374	35454374	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr1:35454374A>C	ENST00000357182.4	-	16	2536	c.2309T>G	c.(2308-2310)aTt>aGt	p.I770S	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	770					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.I770S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ctctccacaaatgacacactg	0.333																																																1	Substitution - Missense(1)	ovary(1)	1											38	33	34					1																	35454374		1627	3766	5393	35226961	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2309T>G	1.37:g.35454374A>C	ENSP00000349708:p.Ile770Ser		35226961	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572642	0.28092	.	.	ENSG00000163867	ENST00000357182	T	0.12361	2.69	3.56	3.56	0.40772	.	0.220645	0.36134	N	0.002777	T	0.11024	0.0269	L	0.52011	1.625	0.80722	D	1	P	0.37466	0.596	B	0.29267	0.1	T	0.06917	-1.0800	10	0.54805	T	0.06	-7.603	8.7304	0.34496	1.0:0.0:0.0:0.0	.	770	O95789	ZMYM6_HUMAN	S	770	ENSP00000349708:I770S	ENSP00000349708:I770S	I	-	2	0	ZMYM6	35226961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.736000	0.62059	1.609000	0.50190	0.533000	0.62120	ATT		0.333	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		C	35454374	A	C	35454374	3	2	285	1	0	0	0	0	1	0	0	0	17704	101	4	5	1672	5	ZMYM6	1	35454374	Missense_Mutation	SNP	A	TCGA-25-1315-01A-01W-0494-09	3173882	35454374	213796247	2	15758											
YBX1	4904	genome.wustl.edu	37	1	43162857	43162857	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr1:43162857G>C	ENST00000321358.7	+	6	803	c.664G>C	c.(664-666)Gac>Cac	p.D222H	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	222					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.D222H(1)		large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCAGGGTGCTGACAACCAGGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											93	84	87					1																	43162857		2203	4300	6503	42935444	SO:0001583	missense	4904			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"nuclease sensitive element binding protein 1"	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.664G>C	1.37:g.43162857G>C	ENSP00000361626:p.Asp222His		42935444	P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	CCDS470.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574607	0.86542	.	.	ENSG00000065978	ENST00000321358;ENST00000332220;ENST00000318612	T;T	0.43688	1.34;0.94	5.38	5.38	0.77491	.	0.127403	0.64402	D	0.000001	T	0.67183	0.2866	M	0.82323	2.585	0.58432	D	0.999999	D	0.69078	0.997	D	0.68192	0.956	T	0.72200	-0.4362	10	0.72032	D	0.01	-5.8553	16.6181	0.84922	0.0:0.0:1.0:0.0	.	222	P67809	YBOX1_HUMAN	H	222;192;214	ENSP00000361626:D222H;ENSP00000405937:D192H	ENSP00000361621:D214H	D	+	1	0	YBX1	42935444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.414000	0.80117	2.507000	0.84556	0.563000	0.77884	GAC		0.408	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		C	43162857	G	C	43162857	3	2	285	1	0	0	0	0	1	0	0	0	17469	1290	45	3	686	3	YBX1	1	43162857	Missense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09	7708483	43162857	206087764	3	15759											
RAD54L	8438	genome.wustl.edu	37	1	46743829	46743829	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr1:46743829A>G	ENST00000371975.4	+	18	2793	c.2119A>G	c.(2119-2121)Aac>Gac	p.N707D	LRRC41_ENST00000472710.1_5'Flank|RAD54L_ENST00000442598.1_Missense_Mutation_p.N707D	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	707					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N707D(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGCAGGGTGGAACCACTGCAC	0.602								Direct reversal of damage;Homologous recombination																																								1	Substitution - Missense(1)	ovary(1)	1											46	40	42					1																	46743829		2203	4300	6503	46516416	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2119A>G	1.37:g.46743829A>G	ENSP00000361043:p.Asn707Asp		46516416	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.063019	0.36373	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75367	-0.93;-0.93	5.12	3.94	0.45596	.	0.092240	0.64402	D	0.000001	T	0.64305	0.2586	L	0.45422	1.42	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.59526	-0.7438	10	0.22706	T	0.39	-20.3616	12.2025	0.54335	0.7406:0.2594:0.0:0.0	.	527;707	G3V1N0;Q92698	.;RAD54_HUMAN	D	707;707;527	ENSP00000396113:N707D;ENSP00000361043:N707D	ENSP00000361043:N707D	N	+	1	0	RAD54L	46516416	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.001000	0.49488	2.168000	0.68352	0.454000	0.30748	AAC		0.602	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		G	46743829	A	G	46743829	3	3	285	1	0	0	0	0	1	0	0	0	12996	246	9	4	2189	4	RAD54L	1	46743829	Missense_Mutation	SNP	A	TCGA-25-1315-01A-01W-0494-09	3580972	46743829	202506792	4	15760											
CYP4X1	260293	genome.wustl.edu	37	1	47501767	47501767	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr1:47501767C>G	ENST00000371901.3	+	6	949	c.699C>G	c.(697-699)caC>caG	p.H233Q	CYP4X1_ENST00000538609.1_Missense_Mutation_p.H232Q	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	233						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.H233Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TGTTGTATCACAGTGACATAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											132	132	132					1																	47501767		2203	4300	6503	47274354	SO:0001583	missense	260293			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.699C>G	1.37:g.47501767C>G	ENSP00000360968:p.His233Gln		47274354	G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	CCDS544.1	.	.	.	.	.	.	.	.	.	.	C	9.965	1.223854	0.22457	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.67865	-0.29;-0.29	5.91	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.46819	1.47	0.52501	D	0.999957	P;B	0.34757	0.467;0.229	B;B	0.38296	0.27;0.113	T	0.55515	-0.8129	10	0.24483	T	0.36	.	12.0953	0.53750	0.0:0.894:0.0:0.106	.	233;232	Q8N118;G3V1U1	CP4X1_HUMAN;.	Q	232;233	ENSP00000445965:H232Q;ENSP00000360968:H233Q	ENSP00000360968:H233Q	H	+	3	2	CYP4X1	47274354	0.872000	0.30054	0.942000	0.38095	0.086000	0.17979	1.643000	0.37217	1.162000	0.42619	0.591000	0.81541	CAC		0.423	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		G	47501767	C	G	47501767	3	3	285	1	0	0	0	0	1	0	0	0	4193	477	17	3	721	3	CYP4X1	1	47501767	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09	757938	47501767	201748854	5	15761											
COL24A1	255631	genome.wustl.edu	37	1	86334224	86334224	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr1:86334224C>T	ENST00000370571.2	-	37	3644	c.3278G>A	c.(3277-3279)aGa>aAa	p.R1093K	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1093K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1093	Collagen-like 10.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R1093K(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGGCCTGATCTACCCAAGGG	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											118	111	113					1																	86334224		1917	4132	6049	86106812	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3278G>A	1.37:g.86334224C>T	ENSP00000359603:p.Arg1093Lys		86106812	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120453	0.06838	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93488	-3.23;-3.23	5.41	2.26	0.28386	.	0.932534	0.08693	N	0.907659	T	0.70684	0.3252	N	0.11560	0.145	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60865	-0.7178	10	0.22109	T	0.4	.	6.6947	0.23193	0.0:0.5573:0.3419:0.1008	.	1093;1093	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	K	1093	ENSP00000359603:R1093K;ENSP00000392531:R1093K	ENSP00000359603:R1093K	R	-	2	0	COL24A1	86106812	0.007000	0.16637	0.022000	0.16811	0.013000	0.08279	0.405000	0.21015	0.241000	0.21283	0.655000	0.94253	AGA		0.468	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		T	86334224	C	T	86334224	3	4	285	1	0	0	0	0	1	0	0	0	3683	913	32	2	1962	2	COL24A1	1	86334224	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09	38832457	86334224	162916397	6	15762											
DENND4B	9909	genome.wustl.edu	37	1	153903542	153903543	+	Splice_Site	INS	-	-	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr1:153903542_153903543insG	ENST00000361217.4	-	25	4415		c.e25-2		DENND4B_ENST00000474386.1_Splice_Site	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGATGGGGCCTGGGGGAGCCAA	0.564																																																0			1																																								152170167	SO:0001630	splice_region_variant	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3997-2->C	1.37:g.153903547_153903547dupG			152170166	Q5T4K0	Splice_Site	INS	ENST00000361217.4	37	CCDS44228.1																																																																																				0.564	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	Intron	G	153903543	-	G	153903542	8	5	285	1	0	1	1	0	0	0	1	0	4434	1594	55	0	511	0	DENND4B	1	153903542	Splice_Site	INS	-	TCGA-25-1315-01A-01W-0494-09	67569318	153903542	95347079	7	15763											
IGSF9	57549	genome.wustl.edu	37	1	159912756	159912756	+	Missense_Mutation	SNP	C	C	T	rs113355407		TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr1:159912756C>T	ENST00000368094.1	-	3	441	c.244G>A	c.(244-246)Gtg>Atg	p.V82M	IGSF9_ENST00000361509.3_Missense_Mutation_p.V82M	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	82	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V82M(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTACCCACGTAATCAGGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	1						C	MET/VAL,MET/VAL	0,4406		0,0,2203	51	53	52		244,244	3.7	1	1	dbSNP_132	52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IGSF9	NM_001135050.1,NM_020789.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	82/1180,82/1164	159912756	1,13005	2203	4300	6503	158179380	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.244G>A	1.37:g.159912756C>T	ENSP00000357073:p.Val82Met		158179380		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489811	0.44249	0.0	1.16E-4	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.27256	1.68;1.68	4.66	3.67	0.42095	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34603	N	0.003831	T	0.20861	0.0502	L	0.36672	1.1	0.29464	N	0.85755	P;D	0.61697	0.798;0.99	B;P	0.60789	0.151;0.879	T	0.01367	-1.1373	9	.	.	.	.	10.8919	0.47000	0.0:0.6766:0.3233:0.0	.	82;82	Q9P2J2;C9JI81	TUTLA_HUMAN;.	M	82	ENSP00000355049:V82M;ENSP00000357073:V82M	.	V	-	1	0	IGSF9	158179380	0.011000	0.17503	1.000000	0.80357	0.975000	0.68041	1.071000	0.30666	2.290000	0.77057	0.557000	0.71058	GTG		0.572	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		T	159912756	C	T	159912756	3	4	285	1	0	0	0	0	1	0	0	0	7605	536	19	1	3371	1	IGSF9	1	159912756	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09	6009214	159912756	89337865	8	15764											
KCNJ10	3766	genome.wustl.edu	37	1	160011339	160011339	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr1:160011339G>T	ENST00000368089.3	-	2	1210	c.984C>A	c.(982-984)agC>agA	p.S328R	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	328					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)	p.S328R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GGTCAAAAAGGCTAAAGTCAG	0.512																																					GBM(167;1368 2014 14817 36425 43215)											1	Substitution - Missense(1)	ovary(1)	1											109	95	99					1																	160011339		2203	4300	6503	158277963	SO:0001583	missense	3766			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.984C>A	1.37:g.160011339G>T	ENSP00000357068:p.Ser328Arg		158277963	A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538393	0.45176	.	.	ENSG00000177807	ENST00000368089	D	0.92495	-3.05	5.09	2.15	0.27550	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.208544	0.49916	D	0.000136	D	0.89438	0.6715	L	0.58810	1.83	0.41414	D	0.987751	P	0.45078	0.85	P	0.51742	0.678	D	0.87441	0.2395	10	0.46703	T	0.11	.	11.4492	0.50142	0.2324:0.0:0.7676:0.0	.	328	P78508	IRK10_HUMAN	R	328	ENSP00000357068:S328R	ENSP00000357068:S328R	S	-	3	2	KCNJ10	158277963	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.334000	0.52097	0.347000	0.23924	-0.797000	0.03246	AGC		0.512	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		T	160011339	G	T	160011339	3	4	285	1	0	0	0	0	1	0	0	0	8044	1194	42	3	159	3	KCNJ10	1	160011339	Missense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09	98583	160011339	89239282	9	15765											
LRP1B	53353	genome.wustl.edu	37	2	141214104	141214104	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr2:141214104T>A	ENST00000389484.3	-	62	10854	c.9883A>T	c.(9883-9885)Acc>Tcc	p.T3295S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3295	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T3295S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAGTGTGGGTTTTTCCAGGG	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											118	109	112					2																	141214104		2203	4300	6503	140930574	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9883A>T	2.37:g.141214104T>A	ENSP00000374135:p.Thr3295Ser		140930574	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752434	0.31046	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.86164	-2.08	5.31	4.1	0.47936	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.716583	0.12900	U	0.429862	T	0.73598	0.3607	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58549	-0.7617	10	0.05833	T	0.94	.	6.8506	0.24012	0.2571:0.0:0.1341:0.6087	.	3295	Q9NZR2	LRP1B_HUMAN	S	3295;3233	ENSP00000374135:T3295S	ENSP00000374135:T3295S	T	-	1	0	LRP1B	140930574	0.938000	0.31826	0.997000	0.53966	0.995000	0.86356	2.064000	0.41432	1.992000	0.58205	0.528000	0.53228	ACC		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141214104	T	A	141214104	3	1	285	1	0	0	0	0	1	0	0	0	8955	1725	60	5	4036	5	LRP1B	2	141214104	Missense_Mutation	SNP	T	TCGA-25-1315-01A-01W-0494-09		141214104	101985269	10	15766											
LRP1B	53353	genome.wustl.edu	37	2	141459320	141459320	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr2:141459320C>G	ENST00000389484.3	-	40	7368	c.6397G>C	c.(6397-6399)Gtt>Ctt	p.V2133L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2133					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V2133L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATATTTTAACCTCCTTCAGG	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											120	112	115					2																	141459320		2203	4300	6503	141175790	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6397G>C	2.37:g.141459320C>G	ENSP00000374135:p.Val2133Leu		141175790	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048730	0.36181	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90563	-2.69	4.58	3.64	0.41730	Six-bladed beta-propeller, TolB-like (1);	0.081973	0.48767	U	0.000164	T	0.79816	0.4511	N	0.13043	0.29	0.35716	D	0.816806	B	0.02656	0.0	B	0.06405	0.002	T	0.73697	-0.3901	10	0.17832	T	0.49	.	9.7288	0.40348	0.0:0.8878:0.0:0.1122	.	2133	Q9NZR2	LRP1B_HUMAN	L	2133;2071	ENSP00000374135:V2133L	ENSP00000374135:V2133L	V	-	1	0	LRP1B	141175790	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.632000	0.54287	0.975000	0.38392	0.467000	0.42956	GTT		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141459320	C	G	141459320	3	3	285	1	0	0	0	0	1	0	0	0	8955	507	18	3	7610	3	LRP1B	2	141459320	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09	245216	141459320	101740053	11	15767											
HAT1	8520	genome.wustl.edu	37	2	172844218	172844218	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr2:172844218C>T	ENST00000264108.4	+	10	1070	c.1034C>T	c.(1033-1035)gCc>gTc	p.A345V	HAT1_ENST00000392584.1_Missense_Mutation_p.A260V|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	345					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)	p.A345V(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ATGAGTGATGCCGAACAATAC	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											131	133	132					2																	172844218		2203	4300	6503	172552464	SO:0001583	missense	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.1034C>T	2.37:g.172844218C>T	ENSP00000264108:p.Ala345Val		172552464	Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521317	0.64747	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	6.08	5.19	0.71726	.	0.096995	0.64402	D	0.000001	T	0.53206	0.1782	L	0.36672	1.1	0.47476	D	0.999434	B;B	0.27380	0.166;0.177	B;B	0.21151	0.033;0.033	T	0.55296	-0.8163	9	0.87932	D	0	-12.7674	15.8101	0.78552	0.0:0.9341:0.0:0.0659	.	260;345	O14929-2;O14929	.;HAT1_HUMAN	V	260;345	.	ENSP00000264108:A345V	A	+	2	0	HAT1	172552464	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.527000	0.45615	2.894000	0.99253	0.655000	0.94253	GCC		0.348	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		T	172844218	C	T	172844218	3	4	285	1	0	0	0	0	1	0	0	0	6964	739	26	2	1072	2	HAT1	2	172844218	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09	31384898	172844218	70355155	12	15768											
CDK5R2	8941	genome.wustl.edu	37	2	219825429	219825429	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr2:219825429G>T	ENST00000302625.4	+	1	1053	c.887G>T	c.(886-888)cGc>cTc	p.R296L	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	296					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)	p.R296L(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTGGCAGCGCTGCCTGCGC	0.627																																																1	Substitution - Missense(1)	ovary(1)	2											69	71	70					2																	219825429		2203	4300	6503	219533673	SO:0001583	missense	8941			U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"neuronal CDK5 activator isoform"	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.887G>T	2.37:g.219825429G>T	ENSP00000304250:p.Arg296Leu		219533673	Q4ZFW6	Missense_Mutation	SNP	ENST00000302625.4	37	CCDS2427.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338411	0.81911	.	.	ENSG00000171450	ENST00000302625	D	0.85088	-1.94	4.52	4.52	0.55395	Cyclin-like (2);	0.211813	0.25109	U	0.033067	D	0.91074	0.7191	M	0.62723	1.935	0.45946	D	0.99877	D	0.89917	1.0	D	0.79108	0.992	D	0.92156	0.5732	10	0.87932	D	0	-9.2002	17.0983	0.86642	0.0:0.0:1.0:0.0	.	296	Q13319	CD5R2_HUMAN	L	296	ENSP00000304250:R296L	ENSP00000304250:R296L	R	+	2	0	CDK5R2	219533673	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.006000	0.63978	2.372000	0.80975	0.650000	0.86243	CGC		0.627	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936		T	219825429	G	T	219825429	3	4	285	1	0	0	0	0	1	0	0	0	3144	1087	38	3	889	3	CDK5R2	2	219825429	Missense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09	46981211	219825429	23373944	13	15769											
PSMD1	5707	genome.wustl.edu	37	2	232026116	232026116	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr2:232026116G>T	ENST00000308696.6	+	20	2443	c.2281G>T	c.(2281-2283)Gtt>Ttt	p.V761F	PSMD1_ENST00000373635.4_Missense_Mutation_p.V761F|PSMD1_ENST00000409643.1_Missense_Mutation_p.V761F	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	761					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.V761F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCCTTCTGTGGTTGGCGTCCT	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											466	380	409					2																	232026116		2203	4300	6503	231734360	SO:0001583	missense	5707			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2281G>T	2.37:g.232026116G>T	ENSP00000309474:p.Val761Phe		231734360	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127191	0.94429	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89227	0.6655	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.945;0.991	D	0.91385	0.5130	9	0.72032	D	0.01	-20.0762	19.9231	0.97094	0.0:0.0:1.0:0.0	.	761;761	Q99460;Q99460-2	PSMD1_HUMAN;.	F	761	.	ENSP00000309474:V761F	V	+	1	0	PSMD1	231734360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.717000	0.92951	0.655000	0.94253	GTT		0.433	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			T	232026116	G	T	232026116	3	4	285	1	0	0	0	0	1	0	0	0	12695	1261	44	3	2359	3	PSMD1	2	232026116	Missense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09	12200687	232026116	11173257	14	15770											
IRAK2	3656	genome.wustl.edu	37	3	10254964	10254964	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr3:10254964C>T	ENST00000256458.4	+	5	692	c.602C>T	c.(601-603)gCa>gTa	p.A201V		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	201					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.A201V(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGGAGTGAGGCAGACGTGGTC	0.532																																																1	Substitution - Missense(1)	ovary(1)	3											81	77	79					3																	10254964		2203	4300	6503	10229964	SO:0001583	missense	3656			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.602C>T	3.37:g.10254964C>T	ENSP00000256458:p.Ala201Val		10229964	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	2.365	-0.345618	0.05208	.	.	ENSG00000134070	ENST00000256458	T	0.34072	1.38	5.34	-1.19	0.09585	Protein kinase-like domain (1);	0.819118	0.10867	N	0.625353	T	0.15132	0.0365	N	0.08118	0	0.09310	N	0.999995	B	0.10296	0.003	B	0.08055	0.003	T	0.23119	-1.0197	10	0.27785	T	0.31	-3.0719	4.8819	0.13683	0.0:0.3338:0.1644:0.5018	.	201	O43187	IRAK2_HUMAN	V	201	ENSP00000256458:A201V	ENSP00000256458:A201V	A	+	2	0	IRAK2	10229964	0.000000	0.05858	0.112000	0.21494	0.492000	0.33523	-0.821000	0.04452	0.041000	0.15688	-0.136000	0.14681	GCA		0.532	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			T	10254964	C	T	10254964	3	4	285	1	0	0	0	0	1	0	0	0	7823	710	25	2	620	2	IRAK2	3	10254964	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09		10254964	187767466	15	15771											
GPR128	84873	genome.wustl.edu	37	3	100373846	100373846	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr3:100373846C>A	ENST00000273352.3	+	12	1815	c.1547C>A	c.(1546-1548)aCa>aAa	p.T516K	GPR128_ENST00000475887.1_Missense_Mutation_p.T221K|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	516					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T516K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATACCCAGGACAGACACCATT	0.428																																					Pancreas(87;185 1975 7223 18722)											1	Substitution - Missense(1)	ovary(1)	3											231	197	209					3																	100373846		2203	4300	6503	101856536	SO:0001583	missense	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1547C>A	3.37:g.100373846C>A	ENSP00000273352:p.Thr516Lys		101856536	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	6.738	0.505011	0.12822	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.37752	1.18;1.55	5.48	-11.0	0.00169	GPCR, family 2-like (1);	2.975240	0.00649	N	0.000546	T	0.28234	0.0697	L	0.40543	1.245	0.09310	N	1	B;B	0.30146	0.27;0.27	B;B	0.31812	0.136;0.136	T	0.08046	-1.0741	10	0.30854	T	0.27	.	13.3073	0.60359	0.1612:0.6547:0.1841:0.0	.	221;516	E9PHI0;Q96K78	.;GP128_HUMAN	K	516;221	ENSP00000273352:T516K;ENSP00000419788:T221K	ENSP00000273352:T516K	T	+	2	0	GPR128	101856536	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.330000	0.01110	-2.040000	0.00916	-0.262000	0.10625	ACA		0.428	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			A	100373846	C	A	100373846	3	1	285	1	0	0	0	0	1	0	0	0	6641	478	17	3	1593	3	GPR128	3	100373846	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09	90118882	100373846	97648584	16	15772											
ACAD9	28976	genome.wustl.edu	37	3	128625093	128625104	+	Splice_Site	DEL	GTGAGTGGCCCC	GTGAGTGGCCCC	-	rs372636698		TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	GTGAGTGGCCCC	GTGAGTGGCCCC	GTGAGTGGCCCC	-	GTGAGTGGCCCC	GTGAGTGGCCCC	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr3:128625093_128625104delGTGAGTGGCCCC	ENST00000308982.7	+	12	1359		c.e12+1		ACAD9_ENST00000511526.1_Splice_Site	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9							dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CATCTTCGAGGTGAGTGGCCCCGCCACCAGCT	0.651																																																1	Unknown(1)	ovary(1)	3																																								130107794	SO:0001630	splice_region_variant	28976			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1278+1GTGAGTGGCCCC>-	3.37:g.128625093_128625104delGTGAGTGGCCCC			130107783	D3DNB8|Q8WXX3	Splice_Site	DEL	ENST00000308982.7	37	CCDS3053.1																																																																																				0.651	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049	Intron	-	128625104	GTGAGTGGCCCC	-	128625093	8	5	285	1	0	1	0	1	0	0	1	0	111	1275	44	0	1325	0	ACAD9	3	128625093	Splice_Site	DEL	GTGAGTGGCCCC	TCGA-25-1315-01A-01W-0494-09	28251247	128625093	69397337	17	15773											
ZBBX	79740	genome.wustl.edu	37	3	167016202	167016202	+	Silent	SNP	T	T	C	rs376514276		TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr3:167016202T>C	ENST00000392766.2	-	18	2110	c.1770A>G	c.(1768-1770)caA>caG	p.Q590Q	ZBBX_ENST00000392767.2_Silent_p.Q590Q|ZBBX_ENST00000455345.2_Silent_p.Q590Q|ZBBX_ENST00000307529.5_Silent_p.Q590Q|ZBBX_ENST00000392764.1_Silent_p.Q561Q	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	590						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q590Q(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCCTTGATATTGTTTTGTTA	0.299																																																2	Substitution - coding silent(2)	ovary(2)	3											133	133	133					3																	167016202		1818	4068	5886	168498896	SO:0001819	synonymous_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1770A>G	3.37:g.167016202T>C			168498896	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																				0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	167016202	T	C	167016202	2	2	285	1	0	0	0	0	0	0	0	1	17516	1490	52	4		4	ZBBX	3	167016202	Silent	SNP	T	TCGA-25-1315-01A-01W-0494-09	38391109	167016202	31006228	18	15774											
MAP3K13	9175	genome.wustl.edu	37	3	185165674	185165674	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr3:185165674G>T	ENST00000265026.3	+	5	1283	c.949G>T	c.(949-951)Gtc>Ttc	p.V317F	MAP3K13_ENST00000535426.1_Missense_Mutation_p.V173F|MAP3K13_ENST00000446828.1_Missense_Mutation_p.V110F|MAP3K13_ENST00000443863.1_Missense_Mutation_p.V173F|MAP3K13_ENST00000424227.1_Missense_Mutation_p.V317F	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.V317F(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGCTGGCACGGTCGCATGGAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											75	71	72					3																	185165674		2203	4300	6503	186648368	SO:0001583	missense	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.949G>T	3.37:g.185165674G>T	ENSP00000265026:p.Val317Phe		186648368		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128765	0.77549	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	N	0.11756	0.17	0.80722	D	1	D;P;D	0.67145	0.991;0.925;0.996	D;P;D	0.75484	0.967;0.804;0.986	D	0.85034	0.0919	10	0.29301	T	0.29	.	19.9414	0.97163	0.0:0.0:1.0:0.0	.	173;110;317	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	F	110;317;173;173;317;62	ENSP00000411483:V110F;ENSP00000399910:V317F;ENSP00000409325:V173F;ENSP00000439257:V173F;ENSP00000265026:V317F;ENSP00000415712:V62F	ENSP00000265026:V317F	V	+	1	0	MAP3K13	186648368	1.000000	0.71417	0.459000	0.27081	0.406000	0.30931	9.824000	0.99380	2.779000	0.95612	0.650000	0.86243	GTC		0.443	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		T	185165674	G	T	185165674	3	4	285	1	0	0	0	0	1	0	0	0	9247	1261	44	3	963	3	MAP3K13	3	185165674	Missense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09	18149472	185165674	12856756	19	15775											
PDLIM3	27295	genome.wustl.edu	37	4	186427686	186427686	+	Silent	SNP	G	G	A	rs201775052		TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr4:186427686G>A	ENST00000284770.5	-	6	856	c.783C>T	c.(781-783)gaC>gaT	p.D261D	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.D213D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	261					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)	p.D261D(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CAGAGCCATCGTCCACCATTC	0.607													G|||	1	0.000199681	0	0	5008	,	,		17264	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	4											72	69	70					4																	186427686		2203	4300	6503	186664680	SO:0001819	synonymous_variant	27295			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.783C>T	4.37:g.186427686G>A			186664680	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	CCDS3844.1																																																																																				0.607	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		A	186427686	G	A	186427686	2	1	285	1	0	0	0	0	0	0	0	1	11681	1136	40	1		1	PDLIM3	4	186427686	Silent	SNP	G	TCGA-25-1315-01A-01W-0494-09		186427686	4726590	20	15776											
TAS2R1	50834	genome.wustl.edu	37	5	9629483	9629483	+	Missense_Mutation	SNP	C	C	A	rs370795531		TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr5:9629483C>A	ENST00000382492.2	-	1	980	c.662G>T	c.(661-663)gGt>gTt	p.G221V	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	221					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.G221V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GATGGGTGCACCCCTGCCAGG	0.493																																																1	Substitution - Missense(1)	ovary(1)	5											55	63	60					5																	9629483		2203	4300	6503	9682483	SO:0001583	missense	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.662G>T	5.37:g.9629483C>A	ENSP00000371932:p.Gly221Val		9682483	Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280230	0.23392	.	.	ENSG00000169777	ENST00000382492	T	0.00745	5.75	5.55	-0.799	0.10901	.	3.229410	0.00923	N	0.002603	T	0.01029	0.0034	L	0.43152	1.355	0.09310	N	1	B	0.27316	0.175	B	0.27170	0.077	T	0.48352	-0.9043	9	.	.	.	.	5.3529	0.16045	0.0:0.3136:0.1567:0.5297	.	221	Q9NYW7	TA2R1_HUMAN	V	221	ENSP00000371932:G221V	.	G	-	2	0	TAS2R1	9682483	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.040000	0.13905	-0.053000	0.13289	-0.140000	0.14226	GGT		0.493	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			A	9629483	C	A	9629483	3	1	285	1	0	0	0	0	1	0	0	0	15565	507	18	3	241	3	TAS2R1	5	9629483	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09		9629483	171285777	21	15777											
C6orf105	84830	genome.wustl.edu	37	6	11723656	11723657	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	GC	GC	GC	AT	GC	GC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr6:11723656_11723657GC>AT	ENST00000414691.3	-	5	993_994	c.583_584GC>AT	c.(583-585)GCt>ATt	p.A195I	ADTRP_ENST00000379413.2_Missense_Mutation_p.A195I|ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Missense_Mutation_p.A213I	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AGAGAAGAAAGCTGCTAGACCC	0.48																																																0			6																																								11831643	SO:0001583	missense	84830			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.583_584delinsAT	6.37:g.11723656_11723657delinsAT	ENSP00000404416:p.Ala195Ile		11831642	B2R7T9|B4DV39|Q5THW1	Missense_Mutation	DNP	ENST00000414691.3	37	CCDS4521.1																																																																																				0.48	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		AT	11723657	GC	AT	11723656	3	1	285	1	0	0	0	0	1	0	0	0	2318	971	34	2	116	2	C6orf105	6	11723656	Missense_Mutation	DNP	GC	TCGA-25-1315-01A-01W-0494-09		11723656	159391411	22	15778											
PHF3	23469	genome.wustl.edu	37	6	64389952	64389952	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr6:64389952A>G	ENST00000262043.3	+	3	636	c.296A>G	c.(295-297)aAt>aGt	p.N99S	PHF3_ENST00000509330.1_Missense_Mutation_p.N99S|PHF3_ENST00000393387.1_Missense_Mutation_p.N99S			Q92576	PHF3_HUMAN	PHD finger protein 3	99					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N99S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAAGTGGCAATGATACCATT	0.323																																					GBM(135;136 1820 29512 34071 46235)											1	Substitution - Missense(1)	ovary(1)	6											136	136	136					6																	64389952		2203	4300	6503	64447911	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.296A>G	6.37:g.64389952A>G	ENSP00000262043:p.Asn99Ser		64447911	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890123	0.52014	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.49432	1.5;2.13;1.58;0.78;2.13	5.87	4.7	0.59300	.	0.168554	0.28322	N	0.015775	T	0.28863	0.0716	M	0.64997	1.995	0.38638	D	0.95154	B;P	0.40211	0.106;0.707	B;B	0.38655	0.021;0.278	T	0.07539	-1.0767	10	0.27785	T	0.31	-22.0289	11.7252	0.51706	0.931:0.0:0.069:0.0	.	99;99	Q92576;D6R9X2	PHF3_HUMAN;.	S	11;99;52;99;99;29	ENSP00000425227:N11S;ENSP00000262043:N99S;ENSP00000424078:N52S;ENSP00000422841:N99S;ENSP00000377048:N99S	ENSP00000262043:N99S	N	+	2	0	PHF3	64447911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.973000	0.63763	1.041000	0.40125	0.482000	0.46254	AAT		0.323	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			G	64389952	A	G	64389952	3	3	285	1	0	0	0	0	1	0	0	0	11836	101	4	4	302	4	PHF3	6	64389952	Missense_Mutation	SNP	A	TCGA-25-1315-01A-01W-0494-09	52666296	64389952	106725115	23	15779											
PKD1L1	168507	genome.wustl.edu	37	7	47886536	47886536	+	Silent	SNP	C	C	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr7:47886536C>T	ENST00000289672.2	-	32	5144	c.5094G>A	c.(5092-5094)gaG>gaA	p.E1698E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1698	GPS.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E1698E(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGATTTCCACTCTCTCTTGT	0.403																																																1	Substitution - coding silent(1)	ovary(1)	7											118	112	114					7																	47886536		2203	4300	6503	47853061	SO:0001819	synonymous_variant	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5094G>A	7.37:g.47886536C>T			47853061	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																				0.403	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47886536	C	T	47886536	2	4	285	1	0	0	0	0	0	0	0	1	11964	564	20	2		2	PKD1L1	7	47886536	Silent	SNP	C	TCGA-25-1315-01A-01W-0494-09		47886536	111252127	24	15780											
SEMA3D	223117	genome.wustl.edu	37	7	84644478	84644478	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr7:84644478A>G	ENST00000284136.6	-	14	1643	c.1600T>C	c.(1600-1602)Tgc>Cgc	p.C534R	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	534	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.C534R(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TAAGTGTCGCATCTGTGCAAG	0.463																																					Ovarian(63;442 1191 17318 29975 31528)											1	Substitution - Missense(1)	ovary(1)	7											151	140	144					7																	84644478		2203	4300	6503	84482414	SO:0001583	missense	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1600T>C	7.37:g.84644478A>G	ENSP00000284136:p.Cys534Arg		84482414	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.601959	0.87055	.	.	ENSG00000153993	ENST00000284136	D	0.92699	-3.09	5.75	5.75	0.90469	Semaphorin/CD100 antigen (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99094	1.0841	10	0.87932	D	0	.	16.0459	0.80720	1.0:0.0:0.0:0.0	.	534	O95025	SEM3D_HUMAN	R	534	ENSP00000284136:C534R	ENSP00000284136:C534R	C	-	1	0	SEMA3D	84482414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.196000	0.70406	0.459000	0.35465	TGC		0.463	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		G	84644478	A	G	84644478	3	3	285	1	0	0	0	0	1	0	0	0	14030	217	8	4	749	4	SEMA3D	7	84644478	Missense_Mutation	SNP	A	TCGA-25-1315-01A-01W-0494-09	36757942	84644478	74494185	25	15781											
AASS	10157	genome.wustl.edu	37	7	121758477	121758477	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr7:121758477T>G	ENST00000393376.1	-	5	666	c.571A>C	c.(571-573)Agc>Cgc	p.S191R	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.S191R			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	191	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.S191R(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GCCTGACTGCTATTCCTGTAG	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											118	109	112					7																	121758477		2203	4300	6503	121545713	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.571A>C	7.37:g.121758477T>G	ENSP00000377040:p.Ser191Arg		121545713	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	19.93	3.918476	0.73098	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	4.83	4.83	0.62350	.	0.177976	0.64402	D	0.000009	T	0.62122	0.2402	M	0.73962	2.25	0.53688	D	0.999971	P	0.47910	0.902	P	0.47470	0.548	T	0.61387	-0.7073	9	0.14656	T	0.56	-17.1179	14.6123	0.68524	0.0:0.0:0.0:1.0	.	191	Q9UDR5	AASS_HUMAN	R	191	.	ENSP00000351834:S191R	S	-	1	0	AASS	121545713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.902000	0.69869	2.046000	0.60703	0.529000	0.55759	AGC		0.413	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		G	121758477	T	G	121758477	3	3	285	1	0	0	0	0	1	0	0	0	24	1522	53	5	2285	5	AASS	7	121758477	Missense_Mutation	SNP	T	TCGA-25-1315-01A-01W-0494-09	37113999	121758477	37380186	26	15782											
CHD7	55636	genome.wustl.edu	37	8	61750655	61750655	+	Silent	SNP	A	A	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr8:61750655A>G	ENST00000423902.2	+	19	4853	c.4374A>G	c.(4372-4374)aaA>aaG	p.K1458K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1458	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K1458K(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTCCAAGAAAGAAATAGAGG	0.353																																																1	Substitution - coding silent(1)	ovary(1)	8											34	30	31					8																	61750655		1799	4023	5822	61913209	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4374A>G	8.37:g.61750655A>G			61913209	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.353	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		G	61750655	A	G	61750655	2	3	285	1	0	0	0	0	0	0	0	1	3330	69	3	4		4	CHD7	8	61750655	Silent	SNP	A	TCGA-25-1315-01A-01W-0494-09		61750655	84613367	27	15783											
TRPS1	7227	genome.wustl.edu	37	8	116426774	116426774	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr8:116426774G>C	ENST00000220888.5	-	6	3482	c.3323C>G	c.(3322-3324)gCt>gGt	p.A1108G	TRPS1_ENST00000519076.1_Missense_Mutation_p.A862G|TRPS1_ENST00000520276.1_Missense_Mutation_p.A1112G|TRPS1_ENST00000395715.3_Missense_Mutation_p.A1121G			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1108	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A1108G(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAGCCAATCAGCTTCACTCTG	0.468									Langer-Giedion syndrome																																							1	Substitution - Missense(1)	ovary(1)	8											103	100	101					8																	116426774		1903	4125	6028	116495950	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3323C>G	8.37:g.116426774G>C	ENSP00000220888:p.Ala1108Gly		116495950	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.0|20.0	3.930906|3.930906	0.73327|0.73327	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.98777|.	-5.13;-5.1;-5.05;-5.1|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.057398|.	0.64402|.	D|.	0.000001|.	T|T	0.52273|0.52273	0.1724|0.1724	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P;P;P|.	0.50943|.	0.94;0.9;0.94|.	P;B;P|.	0.48189|.	0.57;0.366;0.57|.	T|T	0.45877|0.45877	-0.9231|-0.9231	10|5	0.87932|.	D|.	0|.	.|.	19.865|19.865	0.96801|0.96801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1112;1108;1121|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	G|R	1121;1108;862;1112|232	ENSP00000379065:A1121G;ENSP00000220888:A1108G;ENSP00000428910:A862G;ENSP00000428680:A1112G|.	ENSP00000220888:A1108G|.	A|S	-|-	2|3	0|2	TRPS1|TRPS1	116495950|116495950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.637000|7.637000	0.83313|0.83313	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.468	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		C	116426774	G	C	116426774	3	2	285	1	0	0	0	0	1	0	0	0	16593	971	34	3	526	3	TRPS1	8	116426774	Missense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09	54676119	116426774	29937248	28	15784											
KCNQ3	3786	genome.wustl.edu	37	8	133196524	133196524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr8:133196524G>A	ENST00000388996.4	-	3	988	c.568C>T	c.(568-570)Cga>Tga	p.R190*	KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.R190*|KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.R70*	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	190					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.R190*(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)	AACTTCAGTCGGCCCCGCCAG	0.537																																																1	Substitution - Nonsense(1)	ovary(1)	8											84	86	86					8																	133196524		2203	4300	6503	133265706	SO:0001587	stop_gained	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.568C>T	8.37:g.133196524G>A	ENSP00000373648:p.Arg190*		133265706	A2VCT8|B4DJY4|E7EQ89	Nonsense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153288	0.94645	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	.	.	.	5.87	1.07	0.20283	.	0.100176	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5127	15.6646	0.77217	0.0:0.0:0.2032:0.7968	.	.	.	.	X	190;70;190;179;69	.	ENSP00000373648:R190X	R	-	1	2	KCNQ3	133265706	0.989000	0.36119	0.753000	0.31225	0.932000	0.56968	1.458000	0.35223	0.228000	0.21019	0.655000	0.94253	CGA		0.537	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		A	133196524	G	A	133196524	4	1	285	1	0	0	0	0	0	1	0	0	8084	1124	39	1	2102	1	KCNQ3	8	133196524	Nonsense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09	16769750	133196524	13167498	29	15785											
RABEPK	10244	genome.wustl.edu	37	9	127996047	127996047	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr9:127996047T>C	ENST00000373538.3	+	8	1217	c.907T>C	c.(907-909)Tgg>Cgg	p.W303R	RABEPK_ENST00000259460.8_Missense_Mutation_p.W252R|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.W303R	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	303					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.W303R(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TATCATTCCATGGCCAGTGAC	0.458																																																1	Substitution - Missense(1)	ovary(1)	9											198	169	179					9																	127996047		2203	4300	6503	127035868	SO:0001583	missense	10244			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.907T>C	9.37:g.127996047T>C	ENSP00000362639:p.Trp303Arg		127035868	A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343164	0.82022	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.42131	1.69;0.98;1.69	5.68	5.68	0.88126	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.994;0.997	T	0.61758	-0.6997	10	0.20046	T	0.44	-10.4465	15.1064	0.72324	0.0:0.0:0.0:1.0	.	252;303	Q7Z6M1-2;Q7Z6M1	.;RABEK_HUMAN	R	303;252;303	ENSP00000377683:W303R;ENSP00000259460:W252R;ENSP00000362639:W303R	ENSP00000259460:W252R	W	+	1	0	RABEPK	127035868	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.627000	0.83176	2.153000	0.67306	0.528000	0.53228	TGG		0.458	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		C	127996047	T	C	127996047	3	2	285	1	0	0	0	0	1	0	0	0	12966	1464	51	4	933	4	RABEPK	9	127996047	Missense_Mutation	SNP	T	TCGA-25-1315-01A-01W-0494-09		127996047	13217384	30	15786											
VAV2	7410	genome.wustl.edu	37	9	136656967	136656967	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr9:136656967C>A	ENST00000371850.3	-	13	1157	c.1126G>T	c.(1126-1128)Gtt>Ttt	p.V376F	VAV2_ENST00000371851.1_Missense_Mutation_p.V371F|VAV2_ENST00000406606.3_Missense_Mutation_p.V371F	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	376	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V371F(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCCCGTTTAACTTCATTGATG	0.483																																																1	Substitution - Missense(1)	ovary(1)	9											157	146	150					9																	136656967		2203	4300	6503	135646788	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1126G>T	9.37:g.136656967C>A	ENSP00000360916:p.Val376Phe		135646788	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117870	0.77323	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.69040	-0.37;-0.37;-0.37	4.0	4.0	0.46444	Dbl homology (DH) domain (3);	0.139330	0.48286	D	0.000196	T	0.79323	0.4426	M	0.70595	2.14	0.80722	D	1	D;D	0.57899	0.981;0.96	P;D	0.63381	0.541;0.914	T	0.83259	-0.0049	10	0.87932	D	0	.	16.4582	0.84029	0.0:1.0:0.0:0.0	.	376;371	P52735;P52735-3	VAV2_HUMAN;.	F	376;371;371;371	ENSP00000360916:V376F;ENSP00000360917:V371F;ENSP00000385362:V371F	ENSP00000317258:V371F	V	-	1	0	VAV2	135646788	1.000000	0.71417	0.928000	0.36995	0.725000	0.41563	5.867000	0.69597	1.927000	0.55829	0.549000	0.68633	GTT		0.483	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			A	136656967	C	A	136656967	3	1	285	1	0	0	0	0	1	0	0	0	17132	565	20	3	1582	3	VAV2	9	136656967	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09	8660920	136656967	4556464	31	15787											
SORCS3	22986	genome.wustl.edu	37	10	106982968	106982968	+	Silent	SNP	G	G	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr10:106982968G>T	ENST00000369701.3	+	20	3056	c.2829G>T	c.(2827-2829)ggG>ggT	p.G943G	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	943					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.G943G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTCAACTGGGGACCCTTACCT	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)											1	Substitution - coding silent(1)	ovary(1)	10											205	196	199					10																	106982968		2203	4300	6503	106972958	SO:0001819	synonymous_variant	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2829G>T	10.37:g.106982968G>T			106972958	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																				0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	106982968	G	T	106982968	2	4	285	1	0	0	0	0	0	0	0	1	14935	1161	41	3		3	SORCS3	10	106982968	Silent	SNP	G	TCGA-25-1315-01A-01W-0494-09		106982968	28551779	32	15788											
OR8K3	219473	genome.wustl.edu	37	11	56086256	56086256	+	Silent	SNP	A	A	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr11:56086256A>T	ENST00000312711.1	+	1	474	c.474A>T	c.(472-474)ctA>ctT	p.L158L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L158L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTTCTCTTCTAGTCACCATAA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	11											111	113	112					11																	56086256		2201	4296	6497	55842832	SO:0001819	synonymous_variant	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.474A>T	11.37:g.56086256A>T			55842832	Q6IFC4	Silent	SNP	ENST00000312711.1	37	CCDS31527.1																																																																																				0.398	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		T	56086256	A	T	56086256	2	4	285	1	0	0	0	0	0	0	0	1	11244	407	15	5		5	OR8K3	11	56086256	Silent	SNP	A	TCGA-25-1315-01A-01W-0494-09		56086256	78920260	33	15789											
SMTNL1	219537	genome.wustl.edu	37	11	57310464	57310464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr11:57310464G>T	ENST00000399154.2	+	1	349	c.349G>T	c.(349-351)Gag>Tag	p.E117*	SMTNL1_ENST00000457912.1_Nonsense_Mutation_p.E135*|SMTNL1_ENST00000527972.1_Nonsense_Mutation_p.E117*			A8MU46	SMTL1_HUMAN	smoothelin-like 1	117	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E135*(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGGAAAGAAGAGACCAAATC	0.522																																																1	Substitution - Nonsense(1)	ovary(1)	11											40	41	41					11																	57310464		1975	4174	6149	57067040	SO:0001587	stop_gained	219537			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.349G>T	11.37:g.57310464G>T	ENSP00000382108:p.Glu117*		57067040		Nonsense_Mutation	SNP	ENST00000399154.2	37		.	.	.	.	.	.	.	.	.	.	G	17.18	3.322769	0.60634	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	.	.	.	5.44	2.47	0.30058	.	0.272316	0.19153	U	0.121393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-13.8115	8.5167	0.33250	0.0817:0.2962:0.6221:0.0	.	.	.	.	X	135;117;117	.	ENSP00000382108:E117X	E	+	1	0	SMTNL1	57067040	0.992000	0.36948	0.930000	0.37139	0.288000	0.27193	3.175000	0.50855	0.632000	0.30432	0.655000	0.94253	GAG		0.522	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		T	57310464	G	T	57310464	4	4	285	1	0	0	0	0	0	1	0	0	14818	943	33	3	409	3	SMTNL1	11	57310464	Nonsense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09	1224208	57310464	77696052	34	15790											
DLG2	1740	genome.wustl.edu	37	11	83180390	83180390	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr11:83180390C>T	ENST00000532653.1	-	20	2406	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K	DLG2_ENST00000426717.2_Missense_Mutation_p.E184K|DLG2_ENST00000404783.3_Missense_Mutation_p.E198K|DLG2_ENST00000531015.1_Missense_Mutation_p.E687K|DLG2_ENST00000330014.6_Missense_Mutation_p.E641K|DLG2_ENST00000398309.2_Missense_Mutation_p.E720K|DLG2_ENST00000376104.2_Missense_Mutation_p.E825K|DLG2_ENST00000524982.1_Missense_Mutation_p.E716K|DLG2_ENST00000376106.3_Missense_Mutation_p.E184K|DLG2_ENST00000280241.8_Missense_Mutation_p.E759K|DLG2_ENST00000543673.1_Missense_Mutation_p.E825K|DLG2_ENST00000418306.2_Missense_Mutation_p.E599K|DLG2_ENST00000537455.1_Missense_Mutation_p.E470K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	417					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.E720K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCATCCACCTCGTAGTCTCGC	0.378																																																1	Substitution - Missense(1)	ovary(1)	11											175	164	168					11																	83180390		1893	4119	6012	82858038	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2104G>A	11.37:g.83180390C>T	ENSP00000435849:p.Glu702Lys		82858038	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	35	5.520373	0.96416	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000457267;ENST00000420775	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59638	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.25	5.52	5.52	0.82312	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000003	D	0.88016	0.6324	H	0.99770	4.765	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.998	D	0.93378	0.6741	9	.	.	.	.	19.4398	0.94813	0.0:1.0:0.0:0.0	.	687;702;716;641;198;825;720;599	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	K	720;184;825;599;825;759;198;641;470;184;716;702;825;687;72;202	ENSP00000381355:E720K;ENSP00000393049:E184K;ENSP00000365272:E825K;ENSP00000402275:E599K;ENSP00000441994:E825K;ENSP00000280241:E759K;ENSP00000385113:E198K;ENSP00000381353:E641K;ENSP00000443248:E470K;ENSP00000365274:E184K;ENSP00000432894:E716K;ENSP00000435849:E702K;ENSP00000433848:E687K;ENSP00000409133:E72K;ENSP00000391017:E202K	.	E	-	1	0	DLG2	82858038	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	7.445000	0.80570	2.598000	0.87819	0.655000	0.94253	GAG		0.378	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		T	83180390	C	T	83180390	3	4	285	1	0	0	0	0	1	0	0	0	4555	893	31	1	470	1	DLG2	11	83180390	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09	25869926	83180390	51826126	35	15791											
LDHB	3945	genome.wustl.edu	37	12	21796909	21796909	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr12:21796909C>G	ENST00000396076.1	-	4	713	c.381G>C	c.(379-381)aaG>aaC	p.K127N	LDHB_ENST00000350669.1_Missense_Mutation_p.K127N	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	127					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.K127N(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CAGGACTGTACTTGACGATCT	0.408																																																1	Substitution - Missense(1)	ovary(1)	12											130	124	126					12																	21796909		2203	4300	6503	21688176	SO:0001583	missense	3945				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.381G>C	12.37:g.21796909C>G	ENSP00000379386:p.Lys127Asn		21688176		Missense_Mutation	SNP	ENST00000396076.1	37	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020170	0.54576	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075;ENST00000450584	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.69	5.69	0.88448	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.096535	0.64402	D	0.000002	D	0.90776	0.7104	M	0.81112	2.525	0.58432	D	0.999998	B	0.34255	0.445	B	0.42422	0.387	D	0.90685	0.4608	10	0.72032	D	0.01	.	11.2332	0.48925	0.0:0.8588:0.0:0.1412	.	127	P07195	LDHB_HUMAN	N	127	ENSP00000379386:K127N;ENSP00000229319:K127N;ENSP00000379385:K127N;ENSP00000398015:K127N	ENSP00000229319:K127N	K	-	3	2	LDHB	21688176	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.733000	0.26087	2.683000	0.91414	0.563000	0.77884	AAG		0.408	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		G	21796909	C	G	21796909	3	3	285	1	0	0	0	0	1	0	0	0	8701	564	20	3	643	3	LDHB	12	21796909	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09		21796909	112054986	36	15792											
ZCCHC8	55596	genome.wustl.edu	37	12	122966491	122966491	+	Splice_Site	SNP	C	C	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr12:122966491C>G	ENST00000336229.4	-	9	1006		c.e9+1		ZCCHC8_ENST00000536306.1_Splice_Site|ZCCHC8_ENST00000543897.1_Splice_Site	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GCCATTAGTACCTAATAACTC	0.393																																																0			12											116	109	111					12																	122966491		1853	4086	5939	121532444	SO:0001630	splice_region_variant	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.875+1G>C	12.37:g.122966491C>G			121532444	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Splice_Site	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	C	17.88	3.497748	0.64186	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6942	0.96016	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCCHC8	121532444	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.037000	0.76531	2.651000	0.90000	0.455000	0.32223	.		0.393	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	Intron	G	122966491	C	G	122966491	5	3	285	1	0	0	0	0	0	0	1	0	17594	521	18	3	1271	3	ZCCHC8	12	122966491	Splice_Site	SNP	C	TCGA-25-1315-01A-01W-0494-09	101169582	122966491	10885404	37	15793											
TRPC4	7223	genome.wustl.edu	37	13	38225513	38225513	+	Silent	SNP	G	G	C			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	C	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr13:38225513G>C	ENST00000379705.3	-	8	2825	c.1968C>G	c.(1966-1968)ccC>ccG	p.P656P	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Silent_p.P656P|TRPC4_ENST00000338947.5_Silent_p.P483P|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Silent_p.P656P|TRPC4_ENST00000447043.1_Silent_p.P656P|TRPC4_ENST00000379679.1_Silent_p.P483P|TRPC4_ENST00000355779.2_Silent_p.P656P			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	656	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.P656P(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGACATTGAAGGGAGTAGGCA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	13											140	137	138					13																	38225513		2203	4300	6503	37123513	SO:0001819	synonymous_variant	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1968C>G	13.37:g.38225513G>C			37123513	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		C	38225513	G	C	38225513	2	2	285	1	0	0	0	0	0	0	0	1	16580	987	35	3		3	TRPC4	13	38225513	Silent	SNP	G	TCGA-25-1315-01A-01W-0494-09		38225513	76944365	38	15794											
NTRK3	4916	genome.wustl.edu	37	15	88420205	88420205	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr15:88420205C>A	ENST00000360948.2	-	19	2642	c.2481G>T	c.(2479-2481)ttG>ttT	p.L827F	NTRK3_ENST00000355254.2_Missense_Mutation_p.L813F|NTRK3_ENST00000557856.1_Missense_Mutation_p.L805F|NTRK3_ENST00000394480.2_Missense_Mutation_p.L813F|NTRK3_ENST00000357724.2_Missense_Mutation_p.L819F	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L813F(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGCCTTCCCCAAAGCATGGA	0.537			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	1	Substitution - Missense(1)	ovary(1)	15											165	132	143					15																	88420205		2201	4299	6500	86221209	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2481G>T	15.37:g.88420205C>A	ENSP00000354207:p.Leu827Phe		86221209	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353701	0.41700	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	T;T;T;T	0.76968	-1.06;-1.03;-0.98;-1.06	5.71	5.71	0.89125	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000005	T	0.79730	0.4496	L	0.54965	1.715	0.80722	D	1	P;D;P	0.53462	0.883;0.96;0.529	P;P;B	0.52267	0.694;0.59;0.403	T	0.80137	-0.1508	10	0.52906	T	0.07	.	11.8376	0.52336	0.0:0.9201:0.0:0.0799	.	805;813;827	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	F	813;827;819;813	ENSP00000377990:L813F;ENSP00000354207:L827F;ENSP00000350356:L819F;ENSP00000347397:L813F	ENSP00000347397:L813F	L	-	3	2	NTRK3	86221209	1.000000	0.71417	0.991000	0.47740	0.019000	0.09904	2.003000	0.40844	2.709000	0.92574	0.655000	0.94253	TTG		0.537	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				A	88420205	C	A	88420205	3	1	285	1	0	0	0	0	1	0	0	0	10708	593	21	3	42	3	NTRK3	15	88420205	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09		88420205	14111187	39	15795											
ACSM2B	348158	genome.wustl.edu	37	16	20554276	20554276	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr16:20554276T>G	ENST00000329697.6	-	12	1637	c.1469A>C	c.(1468-1470)gAg>gCg	p.E490A	ACSM2B_ENST00000565322.1_Missense_Mutation_p.E411A|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E490A|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E490A|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	490					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.E490A(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CACAGCCGTCTCAACCACAGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	16											107	102	104					16																	20554276		2201	4299	6500	20461777	SO:0001583	missense	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1469A>C	16.37:g.20554276T>G	ENSP00000327453:p.Glu490Ala		20461777	Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508280	0.44660	.	.	ENSG00000066813	ENST00000329697	T	0.65916	-0.18	3.1	3.1	0.35709	AMP-dependent synthetase/ligase (1);	0.289161	0.24202	N	0.040602	T	0.75236	0.3822	M	0.73372	2.23	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.72625	0.978;0.978	T	0.77968	-0.2388	10	0.87932	D	0	-8.7215	11.459	0.50199	0.0:0.0:0.0:1.0	.	490;490	A8K051;Q68CK6	.;ACS2B_HUMAN	A	490	ENSP00000327453:E490A	ENSP00000327453:E490A	E	-	2	0	ACSM2B	20461777	1.000000	0.71417	0.009000	0.14445	0.328000	0.28507	6.168000	0.71908	1.423000	0.47198	0.416000	0.27883	GAG		0.557	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		G	20554276	T	G	20554276	3	3	285	1	0	0	0	0	1	0	0	0	184	1551	54	5	276	5	ACSM2B	16	20554276	Missense_Mutation	SNP	T	TCGA-25-1315-01A-01W-0494-09		20554276	69800477	40	15796											
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	285	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09		7577120	73618090	41	15797											
ZNF624	57547	genome.wustl.edu	37	17	16525650	16525650	+	Silent	SNP	G	G	A			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr17:16525650G>A	ENST00000311331.7	-	6	2641	c.2550C>T	c.(2548-2550)agC>agT	p.S850S		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	850					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.S850S(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTACAGTAAGGCTCGAACTAC	0.348																																					NSCLC(186;1023 2134 13330 38202 39800)											1	Substitution - coding silent(1)	ovary(1)	17											134	136	135					17																	16525650		2203	4300	6503	16466375	SO:0001819	synonymous_variant	57547			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2550C>T	17.37:g.16525650G>A			16466375	Q3SY62|Q3SY63|Q6ZN27	Silent	SNP	ENST00000311331.7	37	CCDS11180.1																																																																																				0.348	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		A	16525650	G	A	16525650	2	1	285	1	0	0	0	0	0	0	0	1	18048	1194	42	2		2	ZNF624	17	16525650	Silent	SNP	G	TCGA-25-1315-01A-01W-0494-09	8948530	16525650	64669560	42	15798											
MEX3C	51320	genome.wustl.edu	37	18	48703666	48703666	+	5'UTR	SNP	T	T	G			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr18:48703666T>G	ENST00000591040.1	-	0	323							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K150N(1)		endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TAGTTGCTCCTTTGGGTCCAA	0.488																																																1	Substitution - Missense(1)	ovary(1)	18											86	81	83					18																	48703666		2203	4300	6503	46957664	SO:0001623	5_prime_UTR_variant	51320			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-476A>C	18.37:g.48703666T>G			46957664	A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37		.	.	.	.	.	.	.	.	.	.	T	17.21	3.330625	0.60743	.	.	ENSG00000176624	ENST00000406189	T	0.34072	1.38	5.88	5.88	0.94601	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	M	0.83384	2.64	0.80722	D	1	D	0.61697	0.99	P	0.57846	0.828	T	0.61987	-0.6949	10	0.62326	D	0.03	-14.244	9.7276	0.40342	0.0:0.0781:0.0:0.9219	.	345	Q5U5Q3	MEX3C_HUMAN	N	345	ENSP00000385610:K345N	ENSP00000385610:K345N	K	-	3	2	MEX3C	46957664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.859000	0.39418	2.246000	0.74042	0.533000	0.62120	AAA		0.488	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		G	48703666	T	G	48703666	1	3	285	0	1	0	0	0	0	0	0	0	9511	1606	56	5		5	MEX3C	18	48703666	5'UTR	SNP	T	TCGA-25-1315-01A-01W-0494-09		48703666	29373582	43	15799											
MAN2B1	4125	genome.wustl.edu	37	19	12775790	12775790	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr19:12775790T>A	ENST00000456935.2	-	4	486	c.446A>T	c.(445-447)gAg>gTg	p.E149V	CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.E146V|WDR83_ENST00000418543.3_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.E149V	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	149					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.E149V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTGGCGAACTCCAGGCGCCC	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											61	47	52					19																	12775790		2203	4300	6503	12636790	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.446A>T	19.37:g.12775790T>A	ENSP00000395473:p.Glu149Val		12636790	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964317	0.92791	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.83250	-1.7;-1.7	5.69	5.69	0.88448	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.156867	0.30830	N	0.008793	D	0.93400	0.7895	H	0.95437	3.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.972;0.978	D	0.95039	0.8176	10	0.87932	D	0	-63.539	13.8998	0.63797	0.0:0.0:0.0:1.0	.	149;149	G5E928;O00754	.;MA2B1_HUMAN	V	149;88;149	ENSP00000395473:E149V;ENSP00000221363:E149V	ENSP00000221363:E149V	E	-	2	0	MAN2B1	12636790	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.569000	0.82380	2.171000	0.68590	0.402000	0.26972	GAG		0.607	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			A	12775790	T	A	12775790	3	1	285	1	0	0	0	0	1	0	0	0	9216	1551	54	5	2673	5	MAN2B1	19	12775790	Missense_Mutation	SNP	T	TCGA-25-1315-01A-01W-0494-09		12775790	46353193	44	15800											
OR7C1	26664	genome.wustl.edu	37	19	14910239	14910239	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr19:14910239G>A	ENST00000248073.2	-	1	784	c.710C>T	c.(709-711)gCg>gTg	p.A237V	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	237					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GGTGGAAAACGCTTTGTGCTT	0.468																																																1	Substitution - Missense(1)	ovary(1)	19											67	64	65					19																	14910239		2203	4300	6503	14771239	SO:0001583	missense	26664			X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.710C>T	19.37:g.14910239G>A	ENSP00000248073:p.Ala237Val		14771239	Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	g	17.62	3.435325	0.62955	.	.	ENSG00000127530	ENST00000248073	T	0.00342	8.03	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34676	U	0.003771	T	0.00412	0.0013	M	0.81802	2.56	0.25771	N	0.984839	P	0.50156	0.932	P	0.44394	0.448	T	0.45934	-0.9227	10	0.72032	D	0.01	.	13.18	0.59649	0.0:0.0:1.0:0.0	.	237	O76099	OR7C1_HUMAN	V	237	ENSP00000248073:A237V	ENSP00000248073:A237V	A	-	2	0	OR7C1	14771239	1.000000	0.71417	0.187000	0.23214	0.010000	0.07245	3.867000	0.56047	2.024000	0.59613	0.543000	0.68304	GCG		0.468	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			A	14910239	G	A	14910239	3	1	285	1	0	0	0	0	1	0	0	0	11217	1087	38	1	254	1	OR7C1	19	14910239	Missense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09	2134449	14910239	44218744	45	15801											
JAK3	3718	genome.wustl.edu	37	19	17937626	17937626	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr19:17937626C>T	ENST00000527670.1	-	23	3330	c.3301G>A	c.(3301-3303)Gga>Aga	p.G1101R	JAK3_ENST00000458235.1_Missense_Mutation_p.G1101R			P52333	JAK3_HUMAN	Janus kinase 3	1101	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.G1101R(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CCCCGGCTTCCGCTCCACAGC	0.622		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	1	Substitution - Missense(1)	ovary(1)	19											120	107	111					19																	17937626		2203	4300	6503	17798626	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3301G>A	19.37:g.17937626C>T	ENSP00000432511:p.Gly1101Arg		17798626	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	4.042	0.005319	0.07866	.	.	ENSG00000105639	ENST00000458235;ENST00000527670	T;T	0.75154	-0.91;-0.91	3.5	2.44	0.29823	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.51719	0.1691	N	0.21194	0.64	0.09310	N	1	P	0.36125	0.538	B	0.19148	0.024	T	0.24333	-1.0163	9	0.22109	T	0.4	2.6838	8.6716	0.34154	0.0:0.7655:0.2345:0.0	.	1101	P52333	JAK3_HUMAN	R	1101	ENSP00000391676:G1101R;ENSP00000432511:G1101R	ENSP00000391676:G1101R	G	-	1	0	JAK3	17798626	0.000000	0.05858	0.030000	0.17652	0.040000	0.13550	0.633000	0.24598	0.679000	0.31345	-0.828000	0.03084	GGA		0.622	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		T	17937626	C	T	17937626	3	4	285	1	0	0	0	0	1	0	0	0	7939	661	23	1	77	1	JAK3	19	17937626	Missense_Mutation	SNP	C	TCGA-25-1315-01A-01W-0494-09	3027387	17937626	41191357	46	15802											
C21orf7	56911	genome.wustl.edu	37	21	30547115	30547115	+	Frame_Shift_Del	DEL	A	A	-			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr21:30547115delA	ENST00000399947.2	+	9	908	c.631delA	c.(631-633)acgfs	p.T211fs	MAP3K7CL_ENST00000399928.1_Frame_Shift_Del_p.T111fs|MAP3K7CL_ENST00000339024.4_Frame_Shift_Del_p.T111fs|MAP3K7CL_ENST00000341618.4_Frame_Shift_Del_p.T211fs|MAP3K7CL_ENST00000399925.1_Frame_Shift_Del_p.T111fs|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399934.1_Frame_Shift_Del_p.T111fs|MAP3K7CL_ENST00000399935.2_Frame_Shift_Del_p.T111fs|MAP3K7CL_ENST00000399926.1_Frame_Shift_Del_p.T111fs|MAP3K7CL_ENST00000545939.1_Frame_Shift_Del_p.T105fs	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	211						cytosol (GO:0005829)|nucleus (GO:0005634)		p.T211fs*7(1)									CGAGGCTCTGACGGAGGAGAA	0.507																																																1	Deletion - Frameshift(1)	ovary(1)	21											119	111	114					21																	30547115		2203	4300	6503	29468986	SO:0001589	frameshift_variant	56911			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.631delA	21.37:g.30547115delA	ENSP00000382828:p.Thr211fs		29468986	D3DSE0|Q8TCL9	Frame_Shift_Del	DEL	ENST00000399947.2	37	CCDS13584.1																																																																																				0.507	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		-	30547115	A	-	30547115	7	5	285	1	0	1	0	1	0	0	0	0	2132	275	10	0	657	0	C21orf7	21	30547115	Frame_Shift_Del	DEL	A	TCGA-25-1315-01A-01W-0494-09		30547115	17582780	47	15803											
TXNRD2	10587	genome.wustl.edu	37	22	19902798	19902798	+	Splice_Site	SNP	A	A	T			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chr22:19902798A>T	ENST00000400521.1	-	7	536	c.530T>A	c.(529-531)aTt>aAt	p.I177N	TXNRD2_ENST00000535882.1_Splice_Site_p.I176N|TXNRD2_ENST00000400518.1_Splice_Site_p.I147N|TXNRD2_ENST00000542719.1_Splice_Site_p.I147N|TXNRD2_ENST00000334363.9_Splice_Site_p.I177N|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Splice_Site_p.I176N	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	177					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.I177N(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGACAGCAGAATCTGAGGAGA	0.607																																																1	Substitution - Missense(1)	ovary(1)	22											54	64	61					22																	19902798		2062	4198	6260	18282798	SO:0001630	splice_region_variant	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.529-1T>A	22.37:g.19902798A>T			18282798	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	A	3.238	-0.155908	0.06544	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.93	4.58	2.49	0.30216	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.340491	0.29551	N	0.011834	T	0.31702	0.0805	N	0.08118	0	0.28042	N	0.933698	B;B;B;B	0.29270	0.145;0.24;0.087;0.145	B;B;B;B	0.36608	0.167;0.229;0.167;0.167	T	0.26467	-1.0102	10	0.22706	T	0.39	-8.2076	8.7708	0.34731	0.2534:0.0:0.7466:0.0	.	177;177;145;176	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	N	147;177;177;154;81;176;176;147;177	ENSP00000383362:I147N;ENSP00000383365:I177N;ENSP00000383369:I154N;ENSP00000383363:I176N;ENSP00000439314:I176N;ENSP00000439570:I147N;ENSP00000334451:I177N	ENSP00000334451:I177N	I	-	2	0	TXNRD2	18282798	0.974000	0.33945	0.998000	0.56505	0.032000	0.12392	1.629000	0.37071	0.670000	0.31165	-0.394000	0.06481	ATT		0.607	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440	Missense_Mutation	T	19902798	A	T	19902798	5	4	285	1	0	0	0	0	0	0	1	0	16808	115	4	5	1088	5	TXNRD2	22	19902798	Splice_Site	SNP	A	TCGA-25-1315-01A-01W-0494-09		19902798	31401768	48	15804											
IRS4	8471	genome.wustl.edu	37	X	107976663	107976663	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chrX:107976663G>A	ENST00000372129.2	-	1	2988	c.2912C>T	c.(2911-2913)cCa>cTa	p.P971L	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	971					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.P971L(2)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTCGTTTGCTGGATTTGGAAA	0.483																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	X											152	139	143					X																	107976663		2203	4300	6503	107863319	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2912C>T	X.37:g.107976663G>A	ENSP00000361202:p.Pro971Leu		107863319		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473876	0.26423	.	.	ENSG00000133124	ENST00000372129	T	0.35973	1.28	5.16	4.27	0.50696	.	0.367155	0.25683	N	0.028995	T	0.24586	0.0596	L	0.29908	0.895	0.09310	N	0.999999	B	0.28128	0.201	B	0.22386	0.039	T	0.14448	-1.0472	10	0.42905	T	0.14	-1.6166	9.2734	0.37686	0.0791:0.0:0.7755:0.1454	.	971	O14654	IRS4_HUMAN	L	971	ENSP00000361202:P971L	ENSP00000361202:P971L	P	-	2	0	IRS4	107863319	0.008000	0.16893	0.006000	0.13384	0.194000	0.23727	0.472000	0.22116	1.084000	0.41184	0.600000	0.82982	CCA		0.483	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		A	107976663	G	A	107976663	3	1	285	1	0	0	0	0	1	0	0	0	7842	1348	47	2	865	2	IRS4	23	107976663	Missense_Mutation	SNP	G	TCGA-25-1315-01A-01W-0494-09		107976663	47293897	49	15805											
ODZ1	10178	genome.wustl.edu	37	X	123785913	123785913	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1315-01A-01W-0494-09	TCGA-25-1315-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52f45b5e-af86-454c-be63-a56c6c21b730	77383f45-bd83-4d11-86e5-c4ce8a0ae73b	g.chrX:123785913T>C	ENST00000371130.3	-	8	1493	c.1430A>G	c.(1429-1431)gAt>gGt	p.D477G	TENM1_ENST00000422452.2_Missense_Mutation_p.D477G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	477					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D479G(1)									CTGTGTATCATCAGAGCCCTT	0.433																																																1	Substitution - Missense(1)	ovary(1)	X											139	121	127					X																	123785913		2203	4300	6503	123613594	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1430A>G	X.37:g.123785913T>C	ENSP00000360171:p.Asp477Gly		123613594	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	9.293	1.051002	0.19827	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.19669	2.13;2.13	5.3	5.3	0.74995	.	0.270493	0.35585	N	0.003113	T	0.11665	0.0284	N	0.08118	0	0.09310	N	0.999996	B;B;B	0.19817	0.039;0.023;0.002	B;B;B	0.11329	0.006;0.004;0.001	T	0.20438	-1.0275	10	0.23302	T	0.38	.	14.3195	0.66476	0.0:0.0:0.0:1.0	.	476;477;477	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	477	ENSP00000360171:D477G;ENSP00000403954:D477G	ENSP00000360171:D477G	D	-	2	0	ODZ1	123613594	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.727000	0.61993	1.760000	0.52011	0.486000	0.48141	GAT		0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		C	123785913	T	C	123785913	3	2	285	1	0	0	0	0	1	0	0	0	10834	1435	50	4	6868	4	ODZ1	23	123785913	Missense_Mutation	SNP	T	TCGA-25-1315-01A-01W-0494-09	15809250	123785913	31484647	50	15806											
ABCB11	8647	genome.wustl.edu	37	2	169791766	169791766	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr2:169791766G>A	ENST00000263817.6	-	23	3108	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	995	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.A995V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGCAGAATTCGCAATAAACAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											146	138	141					2																	169791766		1918	4137	6055	169500012	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2984C>T	2.37:g.169791766G>A	ENSP00000263817:p.Ala995Val		169500012	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574552	0.65878	.	.	ENSG00000073734	ENST00000263817	D	0.89196	-2.48	5.78	5.78	0.91487	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.096695	0.64402	D	0.000001	D	0.89413	0.6708	N	0.21282	0.65	0.80722	D	1	P;D	0.58268	0.908;0.982	P;P	0.58130	0.46;0.833	D	0.88426	0.3032	10	0.36615	T	0.2	.	20.0045	0.97432	0.0:0.0:1.0:0.0	.	437;995	B4DZQ8;O95342	.;ABCBB_HUMAN	V	995	ENSP00000263817:A995V	ENSP00000263817:A995V	A	-	2	0	ABCB11	169500012	1.000000	0.71417	0.885000	0.34714	0.035000	0.12851	9.869000	0.99810	2.729000	0.93468	0.655000	0.94253	GCG		0.448	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		A	169791766	G	A	169791766	3	1	286	1	0	0	0	0	1	0	0	0	42	1087	38	1	1005	1	ABCB11	2	169791766	Missense_Mutation	SNP	G	TCGA-25-1316-01A-01W-0494-09		169791766	73407607	1	15807											
SLC6A11	6538	genome.wustl.edu	37	3	10916711	10916711	+	Silent	SNP	G	G	A	rs144481019		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr3:10916711G>A	ENST00000254488.2	+	6	888	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	274					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T274T(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GAGGGGTCACGTTGCCCGGGG	0.557																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	3						G		0,4406		0,0,2203	212	188	196		822	-3.5	0.7	3	dbSNP_134	196	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC6A11	NM_014229.1		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		274/633	10916711	4,13002	2203	4300	6503	10891711	SO:0001819	synonymous_variant	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.822G>A	3.37:g.10916711G>A			10891711	B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																				0.557	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		A	10916711	G	A	10916711	2	1	286	1	0	0	0	0	0	0	0	1	14677	1132	40	1		1	SLC6A11	3	10916711	Silent	SNP	G	TCGA-25-1316-01A-01W-0494-09		10916711	187105719	2	15808											
FBXW7	55294	genome.wustl.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	A	rs149680468		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr4:153247289G>A	ENST00000281708.4	-	10	2742	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	4											167	156	160					4																	153247289		2203	4300	6503	153466739	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>T	4.37:g.153247289G>A	ENSP00000281708:p.Arg505Cys		153466739	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722220	0.68959	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	505;387;425;329	ENSP00000281708:R505C;ENSP00000296555:R387C;ENSP00000263981:R425C;ENSP00000377528:R329C	ENSP00000263981:R425C	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			A	153247289	G	A	153247289	3	1	286	1	0	0	0	0	1	0	0	0	5769	1116	39	1	622	1	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-25-1316-01A-01W-0494-09		153247289	37906987	3	15809											
CDH10	1008	genome.wustl.edu	37	5	24537498	24537498	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr5:24537498A>G	ENST00000264463.4	-	3	1024	c.517T>C	c.(517-519)Tct>Cct	p.S173P		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	173	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S173P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTACAACAGACATTTCGGGA	0.318										HNSCC(23;0.051)																																						1	Substitution - Missense(1)	ovary(1)	5											129	135	133					5																	24537498		2203	4299	6502	24573255	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.517T>C	5.37:g.24537498A>G	ENSP00000264463:p.Ser173Pro		24573255	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598028	0.66332	.	.	ENSG00000040731	ENST00000264463	T	0.53640	0.61	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.91663	3.23	0.52501	D	0.999955	D	0.76494	0.999	D	0.76575	0.988	T	0.80991	-0.1135	10	0.66056	D	0.02	.	15.1742	0.72899	1.0:0.0:0.0:0.0	.	173	Q9Y6N8	CAD10_HUMAN	P	173	ENSP00000264463:S173P	ENSP00000264463:S173P	S	-	1	0	CDH10	24573255	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	7.306000	0.78905	2.181000	0.69327	0.455000	0.32223	TCT		0.318	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		G	24537498	A	G	24537498	3	3	286	1	0	0	0	0	1	0	0	0	3096	275	10	4	1889	4	CDH10	5	24537498	Missense_Mutation	SNP	A	TCGA-25-1316-01A-01W-0494-09		24537498	156377762	4	15810											
ERGIC1	57222	genome.wustl.edu	37	5	172324048	172324048	+	Silent	SNP	G	G	A	rs543897451		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr5:172324048G>A	ENST00000393784.3	+	3	265	c.126G>A	c.(124-126)tcG>tcA	p.S42S	ERGIC1_ENST00000519860.1_3'UTR|ERGIC1_ENST00000523291.1_Silent_p.S42S	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	42					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S42S(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTCCTCTCGGAGCTCACCG	0.512													G|||	1	0.000199681	0	0	5008	,	,		19624	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	5											255	195	215					5																	172324048		2203	4300	6503	172256654	SO:0001819	synonymous_variant	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.126G>A	5.37:g.172324048G>A			172256654	Q9H0L0|Q9H2J2|Q9ULN9	Silent	SNP	ENST00000393784.3	37	CCDS34292.1																																																																																				0.512	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		A	172324048	G	A	172324048	2	1	286	1	0	0	0	0	0	0	0	1	5223	1103	39	1		1	ERGIC1	5	172324048	Silent	SNP	G	TCGA-25-1316-01A-01W-0494-09	147786550	172324048	8591212	5	15811											
TRIM39	56658	genome.wustl.edu	37	6	30308086	30308086	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr6:30308086A>G	ENST00000396547.1	+	6	1001	c.841A>G	c.(841-843)Atc>Gtc	p.I281V	TRIM39_ENST00000396551.3_Intron|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39_ENST00000376656.4_Missense_Mutation_p.I281V|TRIM39_ENST00000376659.5_Intron|TRIM39-RPP21_ENST00000513556.1_Intron			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	281					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.I281V(1)		ovary(3)	3						ACTCTCAACGATCTGTCCACG	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											67	64	65					6																	30308086		1510	2709	4219	30416065	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.841A>G	6.37:g.30308086A>G	ENSP00000379796:p.Ile281Val		30416065	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	A	6.486	0.457823	0.12342	.	.	ENSG00000204599	ENST00000376656;ENST00000545104;ENST00000396547	T;T	0.59772	0.24;0.24	5.14	-6.87	0.01671	.	2.202470	0.02330	N	0.073879	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03566	-1.1024	10	0.14252	T	0.57	.	7.8173	0.29267	0.2589:0.3784:0.3627:0.0	.	281	Q9HCM9	TRI39_HUMAN	V	281	ENSP00000365844:I281V;ENSP00000379796:I281V	ENSP00000365844:I281V	I	+	1	0	TRIM39	30416065	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.040000	0.03546	-0.962000	0.03604	0.482000	0.46254	ATC		0.463	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		G	30308086	A	G	30308086	3	3	286	1	0	0	0	0	1	0	0	0	16513	333	12	4	859	4	TRIM39	6	30308086	Missense_Mutation	SNP	A	TCGA-25-1316-01A-01W-0494-09		30308086	140806981	6	15812											
C2	717	genome.wustl.edu	37	6	31896508	31896508	+	Splice_Site	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr6:31896508G>A	ENST00000299367.5	+	3	532		c.e3-1		CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Splice_Site|C2_ENST00000452323.2_Intron|C2_ENST00000418949.2_Splice_Site|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000469372.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TCTCTCTCCAGCTGTGCGCTG	0.542																																																1	Unknown(1)	ovary(1)	6											79	79	79					6																	31896508		2203	4300	6503	32004487	SO:0001630	splice_region_variant	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.257-1G>A	6.37:g.31896508G>A			32004487	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Splice_Site	SNP	ENST00000299367.5	37	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815492	0.70912	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000418949;ENST00000477310	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2784	0.82657	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2;XXbac-BPG116M5.17	32004487	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	5.098000	0.64548	2.588000	0.87417	0.491000	0.48974	.		0.542	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		Intron	A	31896508	G	A	31896508	5	1	286	1	0	0	0	0	0	0	1	0	2074	985	34	2	343	2	C2	6	31896508	Splice_Site	SNP	G	TCGA-25-1316-01A-01W-0494-09	1588422	31896508	139218559	7	15813											
DST	667	genome.wustl.edu	37	6	56481863	56481863	+	Silent	SNP	C	C	T			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr6:56481863C>T	ENST00000370765.6	-	24	6509	c.6402G>A	c.(6400-6402)acG>acA	p.T2134T	DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1891					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.T2134T(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGGCTTTCGTCAGAAACT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	6											49	50	50					6																	56481863		2203	4300	6503	56589822	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6402G>A	6.37:g.56481863C>T			56589822	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	CCDS4959.1																																																																																				0.423	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56481863	C	T	56481863	2	4	286	1	0	0	0	0	0	0	0	1	4783	871	31	1		1	DST	6	56481863	Silent	SNP	C	TCGA-25-1316-01A-01W-0494-09	24585355	56481863	114633204	8	15814											
ADCYAP1R1	117	genome.wustl.edu	37	7	31124409	31124409	+	Frame_Shift_Del	DEL	G	G	-			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	-	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr7:31124409delG	ENST00000304166.4	+	8	785	c.496delG	c.(496-498)gtcfs	p.V166fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.V145fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.V166fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.V166fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	166					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.V166fs*25(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CACATCCCTCGTCACCCTCAC	0.557																																					Ovarian(44;225 1186 2158 11092)											1	Deletion - Frameshift(1)	ovary(1)	7											292	215	241					7																	31124409		2203	4300	6503	31090934	SO:0001589	frameshift_variant	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.496delG	7.37:g.31124409delG	ENSP00000306620:p.Val166fs		31090934	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Frame_Shift_Del	DEL	ENST00000304166.4	37	CCDS5433.1																																																																																				0.557	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		-	31124409	G	-	31124409	7	5	286	1	0	1	0	1	0	0	0	0	303	1145	40	0	522	0	ADCYAP1R1	7	31124409	Frame_Shift_Del	DEL	G	TCGA-25-1316-01A-01W-0494-09		31124409	128014254	9	15815											
PTPRN2	5799	genome.wustl.edu	37	7	157361628	157361628	+	Silent	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr7:157361628G>A	ENST00000389418.4	-	21	2877	c.2868C>T	c.(2866-2868)gtC>gtT	p.V956V	PTPRN2_ENST00000389416.4_Silent_p.V939V|PTPRN2_ENST00000389413.3_Silent_p.V927V|PTPRN2_ENST00000404321.2_Silent_p.V979V|PTPRN2_ENST00000409483.1_Silent_p.V918V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	956	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V956V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGTCGATCAGGACGTAGGTGC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	7											154	117	129					7																	157361628		2203	4300	6503	157054389	SO:0001819	synonymous_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2868C>T	7.37:g.157361628G>A			157054389	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	CCDS5947.1																																																																																				0.572	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			A	157361628	G	A	157361628	2	1	286	1	0	0	0	0	0	0	0	1	12811	1161	41	2		2	PTPRN2	7	157361628	Silent	SNP	G	TCGA-25-1316-01A-01W-0494-09	126237219	157361628	1777035	10	15816											
CDH17	1015	genome.wustl.edu	37	8	95188826	95188826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr8:95188826G>A	ENST00000027335.3	-	5	491	c.367C>T	c.(367-369)Cga>Tga	p.R123*	CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.R123*(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AACGTGGGTCGATTGTCGTTG	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	8											255	214	228					8																	95188826		2203	4300	6503	95258002	SO:0001587	stop_gained	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.367C>T	8.37:g.95188826G>A	ENSP00000027335:p.Arg123*		95258002	Q15336|Q2M2E0	Nonsense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102552	0.56183	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	.	.	.	5.93	4.08	0.47627	.	0.399497	0.19197	N	0.120300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-3.2735	14.2229	0.65839	0.0:0.0:0.7275:0.2725	.	.	.	.	X	123	.	ENSP00000027335:R123X	R	-	1	2	CDH17	95258002	0.712000	0.27916	0.831000	0.32960	0.020000	0.10135	1.568000	0.36418	0.792000	0.33850	-0.182000	0.12963	CGA		0.493	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		A	95188826	G	A	95188826	4	1	286	1	0	0	0	0	0	1	0	0	3102	1066	37	1	2187	1	CDH17	8	95188826	Nonsense_Mutation	SNP	G	TCGA-25-1316-01A-01W-0494-09		95188826	51175196	11	15817											
MMP21	118856	genome.wustl.edu	37	10	127455253	127455253	+	Missense_Mutation	SNP	T	T	C	rs189081094		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr10:127455253T>C	ENST00000368808.3	-	7	1687	c.1688A>G	c.(1687-1689)cAt>cGt	p.H563R		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	563					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H563R(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TGTGGAGATATGGACGTCACA	0.363													T|||	1	0.000199681	0	0	5008	,	,		17342	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	10											90	89	89					10																	127455253		2203	4300	6503	127445243	SO:0001583	missense	118856			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1688A>G	10.37:g.127455253T>C	ENSP00000357798:p.His563Arg		127445243	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	22.3	4.265711	0.80358	.	.	ENSG00000154485	ENST00000368808	T	0.18174	2.23	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	M	0.74258	2.255	0.45378	D	0.998368	D	0.89917	1.0	D	0.70935	0.971	T	0.24154	-1.0168	10	0.51188	T	0.08	-13.8999	14.1039	0.65075	0.0:0.0:0.0:1.0	.	563	Q8N119	MMP21_HUMAN	R	563	ENSP00000357798:H563R	ENSP00000357798:H563R	H	-	2	0	MMP21	127445243	1.000000	0.71417	0.287000	0.24848	0.980000	0.70556	4.965000	0.63708	2.216000	0.71823	0.533000	0.62120	CAT		0.363	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			C	127455253	T	C	127455253	3	2	286	1	0	0	0	0	1	0	0	0	9660	1464	51	4	25	4	MMP21	10	127455253	Missense_Mutation	SNP	T	TCGA-25-1316-01A-01W-0494-09		127455253	8079494	12	15818											
KCNJ11	3767	genome.wustl.edu	37	11	17408538	17408545	+	Frame_Shift_Del	DEL	GGGCCCGC	GGGCCCGC	-	rs149141985|rs143276279|rs138168190	byFrequency	TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	GGGCCCGC	GGGCCCGC	GGGCCCGC	-	GGGCCCGC	GGGCCCGC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr11:17408538_17408545delGGGCCCGC	ENST00000339994.4	-	1	1661_1668	c.1094_1101delGCGGGCCC	c.(1093-1101)cgcgggcccfs	p.RGP365fs	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Frame_Shift_Del_p.RGP278fs	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	365					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R365fs>24(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GCTTGCGCAGGGGCCCGCGGGCTGAGGC	0.644											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	ovary(1)	11	GRCh37	CM074296	KCNJ11	M																																				17365121	SO:0001589	frameshift_variant	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1094_1101delGCGGGCCC	11.37:g.17408538_17408545delGGGCCCGC	ENSP00000345708:p.Arg365fs	717	17365114	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Frame_Shift_Del	DEL	ENST00000339994.4	37	CCDS31436.1																																																																																				0.644	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		-	17408545	GGGCCCGC	-	17408538	7	5	286	1	0	1	0	1	0	0	0	0	8045	1219	43	0	75	0	KCNJ11	11	17408538	Frame_Shift_Del	DEL	GGGCCCGC	TCGA-25-1316-01A-01W-0494-09		17408538	117597978	13	15819											
GPR44	11251	genome.wustl.edu	37	11	60620803	60620803	+	Silent	SNP	C	C	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr11:60620803C>A	ENST00000332539.4	-	2	504	c.393G>T	c.(391-393)ctG>ctT	p.L131L	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	131					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)	p.L131L(1)								Indomethacin(DB00328)|Sulindac(DB00605)	GCACCACCTGCAGGCAGCGGT	0.642																																																1	Substitution - coding silent(1)	ovary(1)	11											18	19	19					11																	60620803		2198	4296	6494	60377379	SO:0001819	synonymous_variant	11251			AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.393G>T	11.37:g.60620803C>A			60377379	O94765|Q4QRI6	Silent	SNP	ENST00000332539.4	37	CCDS7994.1																																																																																				0.642	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		A	60620803	C	A	60620803	2	1	286	1	0	0	0	0	0	0	0	1	6695	697	25	3		3	GPR44	11	60620803	Silent	SNP	C	TCGA-25-1316-01A-01W-0494-09	43212265	60620803	74385713	14	15820											
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91	81	85					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		A	25398284	C	A	25398284	3	1	286	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-25-1316-01A-01W-0494-09		25398284	108453611	15	15821											
KBTBD7	84078	genome.wustl.edu	37	13	41767783	41767783	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr13:41767783C>A	ENST00000379483.3	-	1	919	c.611G>T	c.(610-612)aGc>aTc	p.S204I		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	204								p.S204I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ACCCATTCGGCTGAGCTGCTT	0.552																																																1	Substitution - Missense(1)	ovary(1)	13											111	100	103					13																	41767783		2203	4300	6503	40665783	SO:0001583	missense	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.611G>T	13.37:g.41767783C>A	ENSP00000368797:p.Ser204Ile		40665783	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920099	0.52653	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.68479	-0.33	5.1	5.1	0.69264	BTB/Kelch-associated (2);	0.187595	0.46758	D	0.000272	T	0.71762	0.3378	M	0.68317	2.08	0.39767	D	0.972116	D	0.60575	0.988	P	0.50109	0.631	T	0.77595	-0.2529	10	0.72032	D	0.01	.	14.0314	0.64617	0.0:1.0:0.0:0.0	.	204	Q8WVZ9	KBTB7_HUMAN	I	204;106	ENSP00000368797:S204I	ENSP00000368797:S204I	S	-	2	0	KBTBD7	40665783	0.995000	0.38212	0.985000	0.45067	0.665000	0.39181	2.518000	0.45537	2.364000	0.80123	0.563000	0.77884	AGC		0.552	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		A	41767783	C	A	41767783	3	1	286	1	0	0	0	0	1	0	0	0	7998	797	28	3	1447	3	KBTBD7	13	41767783	Missense_Mutation	SNP	C	TCGA-25-1316-01A-01W-0494-09		41767783	73402095	16	15822											
OR4L1	122742	genome.wustl.edu	37	14	20528253	20528253	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr14:20528253T>C	ENST00000315683.1	+	1	50	c.50T>C	c.(49-51)tTt>tCt	p.F17S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F17S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTACTAGGATTTTTTGGACGA	0.353																																																1	Substitution - Missense(1)	ovary(1)	14											151	160	157					14																	20528253		2203	4300	6503	19598093	SO:0001583	missense	122742				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.50T>C	14.37:g.20528253T>C	ENSP00000319217:p.Phe17Ser		19598093	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	14.76	2.631573	0.46944	.	.	ENSG00000176246	ENST00000315683	T	0.06687	3.27	3.84	3.84	0.44239	.	0.426423	0.20101	N	0.099224	T	0.16514	0.0397	M	0.87456	2.885	0.21762	N	0.999559	P	0.40638	0.725	B	0.39971	0.315	T	0.12785	-1.0534	10	0.87932	D	0	.	10.9507	0.47327	0.0:0.0:0.0:1.0	.	17	Q8NH43	OR4L1_HUMAN	S	17	ENSP00000319217:F17S	ENSP00000319217:F17S	F	+	2	0	OR4L1	19598093	0.082000	0.21442	0.685000	0.30070	0.891000	0.51852	2.896000	0.48656	1.743000	0.51761	0.520000	0.50463	TTT		0.353	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			C	20528253	T	C	20528253	3	2	286	1	0	0	0	0	1	0	0	0	11074	1841	64	4	52	4	OR4L1	14	20528253	Missense_Mutation	SNP	T	TCGA-25-1316-01A-01W-0494-09		20528253	86821287	17	15823											
SLC39A6	25800	genome.wustl.edu	37	18	33702138	33702139	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	TA	TA	TA	-	TA	TA	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr18:33702138_33702139delTA	ENST00000590986.1	-	5	1524_1525	c.1235_1236delTA	c.(1234-1236)atafs	p.I412fs	SLC39A6_ENST00000440549.2_Frame_Shift_Del_p.I137fs|SLC39A6_ENST00000269187.5_Frame_Shift_Del_p.I412fs			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	412					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.I412K(1)|p.I412fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CACTTTCTTCTATGTTTTGAGA	0.416																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)	18							,	8,3612		4,0,1806					,	4.3	1			189	17,7877		8,1,3938	no	frameshift,frameshift	SLC39A6	NM_012319.3,NM_001099406.1	,	12,1,5744	A1A1,A1R,RR		0.2154,0.221,0.2171	,	,		25,11489				31956137	SO:0001589	frameshift_variant	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1235_1236delTA	18.37:g.33702138_33702139delTA	ENSP00000465915:p.Ile412fs		31956136	B4DR49|B4E224|Q8IXR3|Q96HP5	Frame_Shift_Del	DEL	ENST00000590986.1	37	CCDS42428.1																																																																																				0.416	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			-	33702139	TA	-	33702138	7	5	286	1	0	1	0	1	0	0	0	0	14625	1512	53	0	1067	0	SLC39A6	18	33702138	Frame_Shift_Del	DEL	TA	TCGA-25-1316-01A-01W-0494-09		33702138	44375110	18	15824											
DLGAP4	22839	genome.wustl.edu	37	20	35128068	35128068	+	Silent	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr20:35128068G>A	ENST00000373907.2	+	8	2287	c.2088G>A	c.(2086-2088)gaG>gaA	p.E696E	DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000340491.4_Silent_p.E157E|DLGAP4_ENST00000339266.5_Silent_p.E696E			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	696					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TTCAGGTAGAGGACGACTGGC	0.582																																																0			20											71	65	67					20																	35128068		2203	4300	6503	34561482	SO:0001819	synonymous_variant	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2088G>A	20.37:g.35128068G>A			34561482	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37																																																																																					0.582	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		A	35128068	G	A	35128068	2	1	286	1	0	0	0	0	0	0	0	1	4562	991	35	2		2	DLGAP4	20	35128068	Silent	SNP	G	TCGA-25-1316-01A-01W-0494-09		35128068	27897452	19	15825											
RTDR1	27156	genome.wustl.edu	37	22	23401715	23401715	+	Silent	SNP	G	G	A	rs149525500	byFrequency	TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr22:23401715G>A	ENST00000216036.4	-	7	1168	c.972C>T	c.(970-972)taC>taT	p.Y324Y		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		324								p.Y324Y(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GAGGCTTTTCGTAAGTCTCCA	0.607													G|||	2	0.000399361	8e-04	0	5008	,	,		17843	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	22						G		1,4405	2.1+/-5.4	0,1,2202	109	104	106		972	-0.5	0	22	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	RTDR1	NM_014433.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		324/349	23401715	1,13005	2203	4300	6503	21731715	SO:0001819	synonymous_variant	27156																														ENST00000216036.4:c.972C>T	22.37:g.23401715G>A			21731715		Silent	SNP	ENST00000216036.4	37	CCDS13803.1																																																																																				0.607	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			A	23401715	G	A	23401715	2	1	286	1	0	0	0	0	0	0	0	1	13722	1140	40	1		1	RTDR1	22	23401715	Silent	SNP	G	TCGA-25-1316-01A-01W-0494-09		23401715	27902851	20	15826											
SPATA21	374955	hgsc.bcm.edu	37	1	16736125	16736125	+	Silent	SNP	G	G	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr1:16736125G>A	ENST00000335496.1	-	6	1040	c.558C>T	c.(556-558)agC>agT	p.S186S	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.S163S	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	186							calcium ion binding (GO:0005509)	p.S186S(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGGTTCTCTCGCTGCTCTGGT	0.672																																																1	Substitution - coding silent(1)	ovary(1)	1											25	26	25					1																	16736125		2203	4300	6503	16608712	SO:0001819	synonymous_variant	374955				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.558C>T	1.37:g.16736125G>A			16608712	B9EK40|F5GXP5	Silent	SNP	ENST00000335496.1	37	CCDS172.1																																																																																				0.672	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		A	16736125	G	A	16736125	2	1	287	1	0	0	0	0	0	0	0	1	15009	1078	38	1		1	SPATA21	1	16736125	Silent	SNP	G	TCGA-25-1317-01A-01W-0490-10		16736125	232514496	1	15827											
PTPRC	5788	hgsc.bcm.edu	37	1	198685843	198685847	+	Frame_Shift_Del	DEL	ATCAA	ATCAA	-			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	ATCAA	ATCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr1:198685843_198685847delATCAA	ENST00000367376.2	+	13	1489_1493	c.1318_1322delATCAA	c.(1318-1323)atcaaafs	p.IK440fs	PTPRC_ENST00000594404.1_Frame_Shift_Del_p.IK279fs|PTPRC_ENST00000352140.3_Frame_Shift_Del_p.IK392fs|PTPRC_ENST00000442510.2_Frame_Shift_Del_p.IK442fs|PTPRC_ENST00000348564.6_Frame_Shift_Del_p.IK281fs	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	440	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K441fs*1(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAAAAACCTGATCAAATATGATTTG	0.307																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								196952470	SO:0001589	frameshift_variant	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1318_1322delATCAA	1.37:g.198685843_198685847delATCAA	ENSP00000356346:p.Ile440fs		196952466	A8K7W6|Q16614|Q9H0Y6	Frame_Shift_Del	DEL	ENST00000367376.2	37																																																																																					0.307	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				-	198685847	ATCAA	-	198685843	7	5	287	1	0	1	0	1	0	0	0	0	12800	333	12	0	1375	0	PTPRC	1	198685843	Frame_Shift_Del	DEL	ATCAA	TCGA-25-1317-01A-01W-0490-10	181949718	198685843	50564778	2	15828											
LIN9	286826	hgsc.bcm.edu	37	1	226496877	226496878	+	In_Frame_Ins	INS	-	-	TGC			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr1:226496877_226496878insTGC	ENST00000328205.5	-	1	556_557	c.11_12insGCA	c.(10-12)ggc>ggGCAc	p.4_5insH	LIN9_ENST00000366801.1_5'UTR|LIN9_ENST00000481685.1_In_Frame_Ins_p.4_5insH	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	0	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.G4_G5insH(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		AAGGCTGCCCGCCGCGGTGCAT	0.673																																					Ovarian(197;1696 2974 11248 14117)											1	Insertion - In frame(1)	ovary(1)	1																																								224563501	SO:0001652	inframe_insertion	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.11_12insGCA	1.37:g.226496877_226496878insTGC	ENSP00000329102:p.Gly4_Gly5insHis		224563500	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	In_Frame_Ins	INS	ENST00000328205.5	37	CCDS1553.1																																																																																				0.673	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		TGC	226496878	-	TGC	226496877	7	5	287	1	0	1	1	0	0	0	0	0	8813	1074	38	0	1724	0	LIN9	1	226496877	In_Frame_Ins	INS	-	TCGA-25-1317-01A-01W-0490-10	27811034	226496877	22753744	3	15829											
MYO7B	4648	hgsc.bcm.edu	37	2	128393337	128393337	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr2:128393337G>A	ENST00000409816.2	+	42	5815	c.5783G>A	c.(5782-5784)cGg>cAg	p.R1928Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R1928Q|MYO7B_ENST00000409090.1_Missense_Mutation_p.R781Q|LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1929Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1928	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R2172Q(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGTGTTCGCGGGAGGATGCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	2											39	47	44					2																	128393337		2138	4231	6369	128109807	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5783G>A	2.37:g.128393337G>A	ENSP00000386461:p.Arg1928Gln		128109807	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	13.36	2.212878	0.39102	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.43	0.246	0.15516	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.270733	0.34484	N	0.003931	T	0.67711	0.2922	M	0.64997	1.995	0.09310	N	1	B;B	0.21071	0.037;0.051	B;B	0.27380	0.079;0.063	T	0.53823	-0.8384	10	0.31617	T	0.26	.	2.5868	0.04832	0.3943:0.1114:0.3805:0.1139	.	843;1928	B0I1T4;Q6PIF6	.;MYO7B_HUMAN	Q	1929;1928;1928;781	ENSP00000374175:R1929Q;ENSP00000415090:R1928Q;ENSP00000386461:R1928Q;ENSP00000386850:R781Q	ENSP00000374175:R1929Q	R	+	2	0	MYO7B	128109807	0.000000	0.05858	0.078000	0.20375	0.779000	0.44077	-0.104000	0.10923	0.020000	0.15106	-0.254000	0.11334	CGG		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128393337	G	A	128393337	3	1	287	1	0	0	0	0	1	0	0	0	10083	1116	39	1	5949	1	MYO7B	2	128393337	Missense_Mutation	SNP	G	TCGA-25-1317-01A-01W-0490-10		128393337	114806036	4	15830											
AGPS	8540	hgsc.bcm.edu	37	2	178364438	178364438	+	Nonsense_Mutation	SNP	T	T	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr2:178364438T>A	ENST00000264167.4	+	14	1601	c.1455T>A	c.(1453-1455)taT>taA	p.Y485*	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	485					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.Y485*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AACAAGTGTATGATATTGCTG	0.348																																																1	Substitution - Nonsense(1)	ovary(1)	2											134	126	129					2																	178364438		2203	4300	6503	178072684	SO:0001587	stop_gained	8540			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1455T>A	2.37:g.178364438T>A	ENSP00000264167:p.Tyr485*		178072684	A5D8U9|Q2TU35	Nonsense_Mutation	SNP	ENST00000264167.4	37	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	T	38	7.106082	0.98066	.	.	ENSG00000018510	ENST00000264167	.	.	.	5.99	4.85	0.62838	.	0.344213	0.35970	N	0.002867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5913	0.33688	0.0:0.1447:0.0:0.8553	.	.	.	.	X	485	.	ENSP00000264167:Y485X	Y	+	3	2	AGPS	178072684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.378000	0.44309	2.292000	0.77174	0.482000	0.46254	TAT		0.348	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			A	178364438	T	A	178364438	4	1	287	1	0	0	0	0	0	1	0	0	394	1471	51	5	1509	5	AGPS	2	178364438	Nonsense_Mutation	SNP	T	TCGA-25-1317-01A-01W-0490-10	49971101	178364438	64834935	5	15831											
PGAP1	80055	hgsc.bcm.edu	37	2	197737199	197737199	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr2:197737199A>C	ENST00000354764.4	-	18	1808	c.1694T>G	c.(1693-1695)tTt>tGt	p.F565C	PGAP1_ENST00000409475.1_Missense_Mutation_p.F565C	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	565					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.F565C(3)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTACATTTTAAATAATGCCAC	0.323																																																3	Substitution - Missense(3)	ovary(2)|large_intestine(1)	2											106	104	104					2																	197737199		2203	4300	6503	197445444	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1694T>G	2.37:g.197737199A>C	ENSP00000346809:p.Phe565Cys		197445444	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518077	0.44763	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	5.06	5.06	0.68205	.	0.078689	0.53938	D	0.000060	T	0.36386	0.0965	N	0.08118	0	0.80722	D	1	B;B	0.32507	0.373;0.187	B;B	0.36418	0.224;0.121	T	0.44329	-0.9335	9	0.87932	D	0	-6.0755	13.1918	0.59715	1.0:0.0:0.0:0.0	.	565;565	Q75T13-3;Q75T13	.;PGAP1_HUMAN	C	345;565;565	.	ENSP00000346809:F565C	F	-	2	0	PGAP1	197445444	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.462000	0.66707	2.141000	0.66446	0.477000	0.44152	TTT		0.323	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		C	197737199	A	C	197737199	3	2	287	1	0	0	0	0	1	0	0	0	11777	14	1	5	1114	5	PGAP1	2	197737199	Missense_Mutation	SNP	A	TCGA-25-1317-01A-01W-0490-10	19372761	197737199	45462174	6	15832											
MOGAT1	116255	hgsc.bcm.edu	37	2	223553194	223553195	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr2:223553194_223553195delAA	ENST00000446656.3	+	2	226_227	c.226_227delAA	c.(226-228)aaafs	p.K76fs		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	76					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.N77fs*8(1)		breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CAGCTGGATCAAAAATTGGACT	0.371																																					Ovarian(93;205 1446 2385 11581 25911)											1	Deletion - Frameshift(1)	ovary(1)	2																																								223261439	SO:0001589	frameshift_variant	116255			AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"diacylglycerol O-acyltransferase 2 like 1"	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.226_227delAA	2.37:g.223553196_223553197delAA	ENSP00000406674:p.Lys76fs		223261438	Q6IEE5	Frame_Shift_Del	DEL	ENST00000446656.3	37	CCDS46524.1																																																																																				0.371	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		-	223553195	AA	-	223553194	7	5	287	1	0	1	0	1	0	0	0	0	9694	131	5	0	232	0	MOGAT1	2	223553194	Frame_Shift_Del	DEL	AA	TCGA-25-1317-01A-01W-0490-10	25815995	223553194	19646179	7	15833											
ACY1	95	hgsc.bcm.edu	37	3	52020493	52020494	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr3:52020493_52020494insTG	ENST00000404366.2	+	7	645_646	c.499_500insTG	c.(499-501)ctgfs	p.L167fs	ACY1_ENST00000476854.1_Frame_Shift_Ins_p.L167fs|ACY1_ENST00000458031.2_Frame_Shift_Ins_p.L257fs|ACY1_ENST00000494103.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Frame_Shift_Ins_p.L268fs|ACY1_ENST00000476351.1_Frame_Shift_Ins_p.L132fs	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	167					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.R168fs*1(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	GTTCCACGCCCTGAGGGCAGGC	0.619																																																1	Insertion - Frameshift(1)	ovary(1)	3																																								51995534	SO:0001589	frameshift_variant	95			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.500_501dupTG	3.37:g.52020494_52020495dupTG	ENSP00000384296:p.Leu167fs		51995533	C9J6I6|C9J9D8|C9JWD4	Frame_Shift_Ins	INS	ENST00000404366.2	37	CCDS2844.1																																																																																				0.619	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		TG	52020494	-	TG	52020493	7	5	287	1	0	1	1	0	0	0	0	0	226	680	24	0	521	0	ACY1	3	52020493	Frame_Shift_Ins	INS	-	TCGA-25-1317-01A-01W-0490-10		52020493	146001937	8	15834											
FAM151B	167555	hgsc.bcm.edu	37	5	79815645	79815645	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr5:79815645T>G	ENST00000282226.4	+	4	606	c.451T>G	c.(451-453)Tta>Gta	p.L151V	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	151								p.L151V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAAACCATTTTTAGACACCGT	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											146	138	141					5																	79815645		2203	4300	6503	79851401	SO:0001583	missense	167555				CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.451T>G	5.37:g.79815645T>G	ENSP00000282226:p.Leu151Val		79851401	A2RRE4	Missense_Mutation	SNP	ENST00000282226.4	37	CCDS4051.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741550	0.49151	.	.	ENSG00000152380	ENST00000282226	T	0.12879	2.64	5.76	0.525	0.17072	.	0.285900	0.40222	N	0.001143	T	0.12902	0.0313	M	0.64080	1.96	0.40974	D	0.984728	P	0.34699	0.464	B	0.32090	0.14	T	0.06972	-1.0797	10	0.46703	T	0.11	-7.6742	8.7199	0.34434	0.4211:0.473:0.0:0.1058	.	151	Q6UXP7	F151B_HUMAN	V	151	ENSP00000282226:L151V	ENSP00000282226:L151V	L	+	1	2	FAM151B	79851401	0.996000	0.38824	0.988000	0.46212	0.902000	0.53008	0.447000	0.21710	0.077000	0.16863	-0.367000	0.07326	TTA		0.403	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1	NM_205548		G	79815645	T	G	79815645	3	3	287	1	0	0	0	0	1	0	0	0	5459	1838	64	5	465	5	FAM151B	5	79815645	Missense_Mutation	SNP	T	TCGA-25-1317-01A-01W-0490-10		79815645	101099615	9	15835											
CAMK4	814	hgsc.bcm.edu	37	5	110819911	110819911	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr5:110819911C>T	ENST00000282356.4	+	11	1567	c.1169C>T	c.(1168-1170)gCa>gTa	p.A390V	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A390V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	390					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A390V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTTAAGGGGGCACAGGCTGAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	5											63	67	66					5																	110819911		2202	4300	6502	110847810	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1169C>T	5.37:g.110819911C>T	ENSP00000282356:p.Ala390Val		110847810	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272374	0.59649	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.68479	-0.33;-0.33	5.45	1.46	0.22682	.	1.465370	0.04666	N	0.409859	T	0.50154	0.1599	N	0.14661	0.345	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.39820	-0.9595	10	0.45353	T	0.12	.	8.251	0.31717	0.4485:0.4059:0.1456:0.0	.	390	Q16566	KCC4_HUMAN	V	390	ENSP00000422634:A390V;ENSP00000282356:A390V	ENSP00000282356:A390V	A	+	2	0	CAMK4	110847810	0.000000	0.05858	0.001000	0.08648	0.531000	0.34715	-0.046000	0.11983	-0.024000	0.13941	0.467000	0.42956	GCA		0.512	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		T	110819911	C	T	110819911	3	4	287	1	0	0	0	0	1	0	0	0	2605	710	25	2	1211	2	CAMK4	5	110819911	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10	31004266	110819911	70095349	10	15836											
ODZ2	57451	hgsc.bcm.edu	37	5	167689432	167689432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr5:167689432delA	ENST00000518659.1	+	29	7981	c.7942delA	c.(7942-7944)aacfs	p.N2648fs	TENM2_ENST00000545108.1_Frame_Shift_Del_p.N2647fs|TENM2_ENST00000519204.1_Frame_Shift_Del_p.N2527fs|TENM2_ENST00000403607.2_Frame_Shift_Del_p.N2472fs|TENM2_ENST00000520394.1_Frame_Shift_Del_p.N2409fs	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2648					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.N2481fs*2(1)									GAGCGGGGTGAACGTGACCGT	0.597																																																1	Deletion - Frameshift(1)	ovary(1)	5											33	37	36					5																	167689432		2152	4227	6379	167622010	SO:0001589	frameshift_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7942delA	5.37:g.167689432delA	ENSP00000429430:p.Asn2648fs		167622010	Q9ULU2	Frame_Shift_Del	DEL	ENST00000518659.1	37																																																																																					0.597	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		-	167689432	A	-	167689432	7	5	287	1	0	1	0	1	0	0	0	0	10835	246	9	0	8029	0	ODZ2	5	167689432	Frame_Shift_Del	DEL	A	TCGA-25-1317-01A-01W-0490-10	56869521	167689432	13225828	11	15837											
HIST1H3G	8355	hgsc.bcm.edu	37	6	26271323	26271323	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr6:26271323C>A	ENST00000305910.3	-	1	289	c.290G>T	c.(289-291)tGc>tTc	p.C97F	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	97					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.C97F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GTAGGCCTCGCAGGCCTCCTG	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											89	91	90					6																	26271323		2203	4300	6503	26379302	SO:0001583	missense	8355			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.290G>T	6.37:g.26271323C>A	ENSP00000439660:p.Cys97Phe		26379302	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	7.720	0.696959	0.15106	.	.	ENSG00000256018	ENST00000305910	T	0.68331	-0.32	4.42	4.42	0.53409	.	.	.	.	.	T	0.74222	0.3688	.	.	.	0.43032	D	0.994607	.	.	.	.	.	.	T	0.79181	-0.1909	6	0.87932	D	0	.	16.4001	0.83637	0.0:1.0:0.0:0.0	.	.	.	.	F	97	ENSP00000439660:C97F	ENSP00000439660:C97F	C	-	2	0	HIST1H3G	26379302	1.000000	0.71417	0.999000	0.59377	0.035000	0.12851	4.740000	0.62087	2.183000	0.69458	0.563000	0.77884	TGC		0.577	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		A	26271323	C	A	26271323	3	1	287	1	0	0	0	0	1	0	0	0	7161	710	25	3	124	3	HIST1H3G	6	26271323	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10		26271323	144843744	12	15838											
STAG3	10734	hgsc.bcm.edu	37	7	99779729	99779729	+	Silent	SNP	T	T	C			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr7:99779729T>C	ENST00000426455.1	+	3	540	c.133T>C	c.(133-135)Tta>Cta	p.L45L	STAG3_ENST00000394018.2_Silent_p.L45L|STAG3_ENST00000317296.5_Silent_p.L45L	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	45					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.L45L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGACTCTTTGTTAGCTGATGA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	7											122	114	117					7																	99779729		2203	4300	6503	99617665	SO:0001819	synonymous_variant	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.133T>C	7.37:g.99779729T>C			99617665	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	CCDS34703.1																																																																																				0.418	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		C	99779729	T	C	99779729	2	2	287	1	0	0	0	0	0	0	0	1	15246	1722	60	4		4	STAG3	7	99779729	Silent	SNP	T	TCGA-25-1317-01A-01W-0490-10		99779729	59358934	13	15839											
PTPRD	5789	hgsc.bcm.edu	37	9	8471015	8471015	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr9:8471015C>T	ENST00000381196.4	-	28	4027	c.3484G>A	c.(3484-3486)Gat>Aat	p.D1162N	PTPRD_ENST00000356435.5_Missense_Mutation_p.D1162N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D741N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1140N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1149N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D748N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D751N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1162N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D751N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D748N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D741N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1162					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1162N(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCATTTCATCTGGACTCTCC	0.408										TSP Lung(15;0.13)																																						1	Substitution - Missense(1)	ovary(1)	9											164	156	158					9																	8471015		2203	4300	6503	8461015	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3484G>A	9.37:g.8471015C>T	ENSP00000370593:p.Asp1162Asn		8461015	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380877	0.95945	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.55760	0.51;0.51;0.55;0.6;0.73;0.83;0.6;0.5;0.51;0.73;0.84	5.72	5.72	0.89469	.	0.047899	0.85682	D	0.000000	T	0.71426	0.3338	M	0.65498	2.005	0.80722	D	1	B;B;D;B;P;P;B;D;B	0.63880	0.083;0.421;0.993;0.013;0.712;0.763;0.002;0.96;0.0	B;B;D;B;P;B;B;P;B	0.68192	0.03;0.107;0.956;0.01;0.617;0.361;0.015;0.765;0.0	T	0.69018	-0.5256	9	.	.	.	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	741;746;751;751;748;748;1149;1162;1162	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	N	1162;1162;1149;1140;751;741;748;748;633;1162;751;741	ENSP00000370593:D1162N;ENSP00000348812:D1162N;ENSP00000353187:D1149N;ENSP00000351293:D1140N;ENSP00000347373:D751N;ENSP00000380741:D741N;ENSP00000380735:D748N;ENSP00000440515:D748N;ENSP00000438164:D1162N;ENSP00000417093:D751N;ENSP00000380731:D741N	.	D	-	1	0	PTPRD	8461015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.150000	0.77403	2.711000	0.92665	0.655000	0.94253	GAT		0.408	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8471015	C	T	8471015	3	4	287	1	0	0	0	0	1	0	0	0	12802	913	32	2	2383	2	PTPRD	9	8471015	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10		8471015	132742416	14	15840											
PPP2R4	5524	hgsc.bcm.edu	37	9	131891295	131891295	+	Missense_Mutation	SNP	C	C	T	rs200309124		TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr9:131891295C>T	ENST00000337738.1	+	5	620	c.353C>T	c.(352-354)aCg>aTg	p.T118M	PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000393370.2_Missense_Mutation_p.T83M|PPP2R4_ENST00000355007.3_Intron|PPP2R4_ENST00000357197.4_Missense_Mutation_p.T54M|PPP2R4_ENST00000358994.4_Missense_Mutation_p.T83M|PPP2R4_ENST00000348141.5_Missense_Mutation_p.T89M|PPP2R4_ENST00000452489.2_Missense_Mutation_p.T118M	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	118					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)	p.T118M(1)		breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CTTCTCAACACGCTGGACAGG	0.537																																					Colon(158;2158 2504 4450 20433)											1	Substitution - Missense(1)	ovary(1)	9											95	80	85					9																	131891295		2203	4300	6503	130931116	SO:0001583	missense	5524			X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9308	protein-coding gene	gene with protein product	"phosphotyrosyl phosphatase activator", "PP2A phosphatase activator"	600756	"protein phosphatase 2A, regulatory subunit B' (PR 53)"			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.353C>T	9.37:g.131891295C>T	ENSP00000337448:p.Thr118Met		130931116	A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	37		.	.	.	.	.	.	.	.	.	.	C	26.5	4.744957	0.89663	.	.	ENSG00000119383	ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000357197;ENST00000445241;ENST00000414331;ENST00000417728;ENST00000453358;ENST00000417504;ENST00000440346	T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.83953	2.67	0.80722	D	1	P;D;D;D	0.69078	0.908;0.982;0.957;0.997	B;P;P;P	0.53912	0.424;0.701;0.49;0.737	T	0.59747	-0.7396	10	0.54805	T	0.06	-16.4698	17.8524	0.88751	0.0:1.0:0.0:0.0	.	54;118;118;83	Q15257-3;B4DZF8;Q15257;Q15257-2	.;.;PTPA_HUMAN;.	M	83;118;83;118;89;118;54;118;46;48;48;106;48	ENSP00000351885:T83M;ENSP00000395499:T118M;ENSP00000377036:T83M;ENSP00000337448:T118M;ENSP00000335200:T89M;ENSP00000394338:T118M;ENSP00000349726:T54M;ENSP00000406997:T118M;ENSP00000399069:T46M;ENSP00000403542:T48M;ENSP00000393092:T48M;ENSP00000400314:T106M;ENSP00000393796:T48M	ENSP00000337448:T118M	T	+	2	0	PPP2R4	130931116	1.000000	0.71417	0.706000	0.30403	0.873000	0.50193	6.017000	0.70805	2.507000	0.84556	0.655000	0.94253	ACG		0.537	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		T	131891295	C	T	131891295	3	4	287	1	0	0	0	0	1	0	0	0	12394	536	19	1	371	1	PPP2R4	9	131891295	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10	123420280	131891295	9322136	15	15841											
MKX	283078	hgsc.bcm.edu	37	10	27964271	27964271	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr10:27964271T>C	ENST00000375790.5	-	7	1378	c.946A>G	c.(946-948)Aat>Gat	p.N316D	MKX_ENST00000419761.1_Missense_Mutation_p.N316D			Q8IYA7	MKX_HUMAN	mohawk homeobox	316					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.N316D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGTGCAAGATTTGTTAAGGCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	10											285	248	261					10																	27964271		2203	4300	6503	28004277	SO:0001583	missense	283078			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.946A>G	10.37:g.27964271T>C	ENSP00000364946:p.Asn316Asp		28004277	B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028578	0.75390	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.18016	2.24;2.24	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	L	0.55481	1.735	0.80722	D	1	B	0.33549	0.417	B	0.25884	0.064	T	0.01520	-1.1334	10	0.62326	D	0.03	-32.3208	16.3473	0.83146	0.0:0.0:0.0:1.0	.	316	Q8IYA7	MKX_HUMAN	D	316	ENSP00000364946:N316D;ENSP00000400896:N316D	ENSP00000364946:N316D	N	-	1	0	MKX	28004277	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.423000	0.80229	2.320000	0.78422	0.528000	0.53228	AAT		0.463	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		C	27964271	T	C	27964271	3	2	287	1	0	0	0	0	1	0	0	0	9610	1841	64	4	116	4	MKX	10	27964271	Missense_Mutation	SNP	T	TCGA-25-1317-01A-01W-0490-10		27964271	107570476	16	15842											
MUC6	4588	hgsc.bcm.edu	37	11	1016041	1016042	+	Frame_Shift_Ins	INS	-	-	C			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr11:1016041_1016042insC	ENST00000421673.2	-	31	6809_6810	c.6759_6760insG	c.(6757-6762)aggaccfs	p.T2254fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2254	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T2254fs*120(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGCCGTGGTCCTGGGCGTGG	0.614																																																1	Insertion - Frameshift(1)	ovary(1)	11																																								1006042	SO:0001589	frameshift_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6760dupG	11.37:g.1016043_1016043dupC	ENSP00000406861:p.Thr2254fs		1006041	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Ins	INS	ENST00000421673.2	37	CCDS44513.1																																																																																				0.614	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016042	-	C	1016041	7	5	287	1	0	1	1	0	0	0	0	0	9980	1667	58	0	571	0	MUC6	11	1016041	Frame_Shift_Ins	INS	-	TCGA-25-1317-01A-01W-0490-10		1016041	133990475	17	15843											
AMBRA1	55626	hgsc.bcm.edu	37	11	46439541	46439541	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr11:46439541G>C	ENST00000458649.2	-	15	3456	c.3038C>G	c.(3037-3039)tCt>tGt	p.S1013C	AMBRA1_ENST00000534300.1_Missense_Mutation_p.S953C|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S984C|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S953C|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S923C|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S894C|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S984C			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1013					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)		p.S923C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCAACGGGCAGAGTTGATACT	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											107	101	103					11																	46439541		2201	4299	6500	46396117	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3038C>G	11.37:g.46439541G>C	ENSP00000415327:p.Ser1013Cys		46396117	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.017077	0.93404	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	N	0.12182	0.205	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.993;0.998;0.998;0.997;0.997;0.997	T	0.22906	-1.0203	10	0.87932	D	0	.	19.9478	0.97189	0.0:0.0:1.0:0.0	.	1013;984;953;894;1016;923	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	C	923;894;953;984;953;1013;2;984	ENSP00000318313:S923C;ENSP00000433372:S894C;ENSP00000431926:S953C;ENSP00000410899:S984C;ENSP00000298834:S953C;ENSP00000415327:S1013C;ENSP00000433945:S984C	ENSP00000298834:S953C	S	-	2	0	AMBRA1	46396117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.827000	0.99397	2.712000	0.92718	0.591000	0.81541	TCT		0.522	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		C	46439541	G	C	46439541	3	2	287	1	0	0	0	0	1	0	0	0	565	942	33	3	874	3	AMBRA1	11	46439541	Missense_Mutation	SNP	G	TCGA-25-1317-01A-01W-0490-10	45423500	46439541	88566975	18	15844											
TAF6L	10629	hgsc.bcm.edu	37	11	62543286	62543286	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr11:62543286G>A	ENST00000294168.3	+	2	232	c.31G>A	c.(31-33)Gag>Aag	p.E11K	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	11					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E11K(1)		endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GCGGTTTGTGGAGATCCCTCG	0.642																																																1	Substitution - Missense(1)	ovary(1)	11											59	62	61					11																	62543286		2201	4299	6500	62299862	SO:0001583	missense	10629			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.31G>A	11.37:g.62543286G>A	ENSP00000294168:p.Glu11Lys		62299862	B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205018	0.79127	.	.	ENSG00000162227	ENST00000294168;ENST00000526261;ENST00000529509	T;T;T	0.42900	0.96;0.96;0.96	4.78	4.78	0.61160	Histone-fold (2);TATA box binding protein associated factor (TAF) (2);	0.065639	0.64402	D	0.000015	T	0.45054	0.1323	L	0.50333	1.59	0.80722	D	1	P;P	0.43542	0.81;0.81	B;P	0.46659	0.339;0.523	T	0.21965	-1.0230	10	0.28530	T	0.3	-10.367	15.6813	0.77371	0.0:0.0:1.0:0.0	.	11;11	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	K	11	ENSP00000294168:E11K;ENSP00000435116:E11K;ENSP00000434662:E11K	ENSP00000294168:E11K	E	+	1	0	TAF6L	62299862	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.568000	0.67385	2.633000	0.89246	0.561000	0.74099	GAG		0.642	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		A	62543286	G	A	62543286	3	1	287	1	0	0	0	0	1	0	0	0	15531	1175	41	2	33	2	TAF6L	11	62543286	Missense_Mutation	SNP	G	TCGA-25-1317-01A-01W-0490-10	16103745	62543286	72463230	19	15845											
C2CD3	26005	hgsc.bcm.edu	37	11	73789396	73789396	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr11:73789396T>G	ENST00000334126.7	-	23	4593	c.4367A>C	c.(4366-4368)gAa>gCa	p.E1456A	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1456A			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1456					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.E1456A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTTTACAGATTCCTTAGGCTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											97	91	93					11																	73789396		2200	4293	6493	73467044	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4367A>C	11.37:g.73789396T>G	ENSP00000334379:p.Glu1456Ala		73467044	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	T	0.811	-0.751927	0.03041	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.14516	2.9;2.91;2.5	5.35	4.18	0.49190	.	0.342003	0.30704	N	0.009051	T	0.07773	0.0195	L	0.47716	1.5	0.09310	N	0.999991	P	0.42871	0.792	B	0.35039	0.194	T	0.15065	-1.0450	10	0.07030	T	0.85	-16.0428	4.2844	0.10848	0.3383:0.0992:0.0:0.5626	.	1456	Q4AC94-1	.	A	1456;1456;1437;264	ENSP00000334379:E1456A;ENSP00000323339:E1456A;ENSP00000388750:E264A	ENSP00000323339:E1456A	E	-	2	0	C2CD3	73467044	0.082000	0.21442	0.998000	0.56505	0.120000	0.20174	2.935000	0.48963	2.025000	0.59659	0.528000	0.53228	GAA		0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		G	73789396	T	G	73789396	3	3	287	1	0	0	0	0	1	0	0	0	2154	1783	62	5	1560	5	C2CD3	11	73789396	Missense_Mutation	SNP	T	TCGA-25-1317-01A-01W-0490-10	11246110	73789396	61217120	20	15846											
OR8B4	283162	hgsc.bcm.edu	37	11	124294128	124294128	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr11:124294128C>A	ENST00000356130.3	-	1	661	c.640G>T	c.(640-642)Gtc>Ttc	p.V214F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V214F(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAAGAGATGACGATGCTTATG	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											89	75	80					11																	124294128		2201	4299	6500	123799338	SO:0001583	missense	283162			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.640G>T	11.37:g.124294128C>A	ENSP00000348449:p.Val214Phe		123799338	B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.495766	0.00010	.	.	ENSG00000198657	ENST00000356130	T	0.00277	8.34	4.14	0.336	0.15958	GPCR, rhodopsin-like superfamily (1);	0.367346	0.23494	N	0.047561	T	0.00073	0.0002	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36407	-0.9749	10	0.02654	T	1	.	5.9376	0.19175	0.2511:0.3054:0.0:0.4435	.	214	Q96RC9	OR8B4_HUMAN	F	214	ENSP00000348449:V214F	ENSP00000348449:V214F	V	-	1	0	OR8B4	123799338	0.000000	0.05858	0.409000	0.26459	0.035000	0.12851	-2.446000	0.01010	0.043000	0.15746	-3.124000	0.00061	GTC		0.483	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		A	124294128	C	A	124294128	3	1	287	1	0	0	0	0	1	0	0	0	11229	536	19	3	291	3	OR8B4	11	124294128	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10	50504732	124294128	10712388	21	15847											
VWF	7450	hgsc.bcm.edu	37	12	6077326	6077326	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr12:6077326C>T	ENST00000261405.5	-	46	7991	c.7737G>A	c.(7735-7737)atG>atA	p.M2579I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2579					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.M2579I(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCAGGCCTCCATGCGCTCTG	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											89	78	82					12																	6077326		2203	4300	6503	5947587	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7737G>A	12.37:g.6077326C>T	ENSP00000261405:p.Met2579Ile		5947587	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	6.330	0.428920	0.11987	.	.	ENSG00000110799	ENST00000261405	T	0.34859	1.34	4.73	3.77	0.43336	.	0.977550	0.08318	N	0.964295	T	0.25680	0.0625	N	0.22421	0.69	0.29305	N	0.868437	B	0.02656	0.0	B	0.01281	0.0	T	0.03818	-1.1001	10	0.30854	T	0.27	.	9.6542	0.39917	0.2076:0.7924:0.0:0.0	.	2579	P04275	VWF_HUMAN	I	2579	ENSP00000261405:M2579I	ENSP00000261405:M2579I	M	-	3	0	VWF	5947587	0.147000	0.22687	0.404000	0.26397	0.182000	0.23217	1.111000	0.31159	2.615000	0.88500	0.555000	0.69702	ATG		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6077326	C	T	6077326	3	4	287	1	0	0	0	0	1	0	0	0	17246	594	21	2	732	2	VWF	12	6077326	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10		6077326	127774569	22	15848											
FMNL3	91010	hgsc.bcm.edu	37	12	50047597	50047597	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr12:50047597C>T	ENST00000293590.5	-	12	1365	c.1132G>A	c.(1132-1134)Gtg>Atg	p.V378M	FMNL3_ENST00000352151.5_Missense_Mutation_p.V327M|FMNL3_ENST00000335154.5_Missense_Mutation_p.V378M|FMNL3_ENST00000550488.1_Missense_Mutation_p.V378M			Q8IVF7	FMNL3_HUMAN	formin-like 3	378	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.V378M(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ACATCAAACACGTTGTCCAGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	12											177	178	178					12																	50047597		2022	4183	6205	48333864	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1132G>A	12.37:g.50047597C>T	ENSP00000293590:p.Val378Met		48333864	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.009247	0.75046	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.85660	0.1288	10	0.25751	T	0.34	.	19.3176	0.94223	0.0:1.0:0.0:0.0	.	327;378	Q8IVF7-2;Q8IVF7-3	.;.	M	378;378;327;378	ENSP00000335655:V378M;ENSP00000447479:V378M;ENSP00000344311:V327M;ENSP00000293590:V378M	ENSP00000293590:V378M	V	-	1	0	FMNL3	48333864	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTG		0.532	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		T	50047597	C	T	50047597	3	4	287	1	0	0	0	0	1	0	0	0	5953	536	19	1	2011	1	FMNL3	12	50047597	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10	43970271	50047597	83804298	23	15849											
E2F7	144455	hgsc.bcm.edu	37	12	77444416	77444416	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr12:77444416T>G	ENST00000322886.7	-	4	713	c.478A>C	c.(478-480)Agt>Cgt	p.S160R	E2F7_ENST00000416496.2_Missense_Mutation_p.S160R	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	160					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S160R(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAGGGATAACTTGGATAGCGA	0.443																																																1	Substitution - Missense(1)	ovary(1)	12											201	184	190					12																	77444416		2203	4300	6503	75968547	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.478A>C	12.37:g.77444416T>G	ENSP00000323246:p.Ser160Arg		75968547	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.377181|3.377181	0.61735|0.61735	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000551058|ENST00000322886;ENST00000416496;ENST00000550669	.|T;T;T	.|0.17528	.|2.53;2.27;2.28	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.075950	.|0.85682	.|D	.|0.000000	T|T	0.25938|0.25938	0.0632|0.0632	N|N	0.17278|0.17278	0.47|0.47	0.50813|0.50813	D|D	0.99989|0.99989	.|D;D	.|0.69078	.|0.996;0.997	.|P;D	.|0.66497	.|0.907;0.944	T|T	0.05484|0.05484	-1.0882|-1.0882	5|10	.|0.54805	.|T	.|0.06	-18.0679|-18.0679	15.6048|15.6048	0.76658|0.76658	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|160;160	.|F8VSE7;Q96AV8	.|.;E2F7_HUMAN	H|R	37|160	.|ENSP00000323246:S160R;ENSP00000393639:S160R;ENSP00000448245:S160R	.|ENSP00000323246:S160R	Q|S	-|-	3|1	2|0	E2F7|E2F7	75968547|75968547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.715000|5.715000	0.68430|0.68430	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	CAA|AGT		0.443	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		G	77444416	T	G	77444416	3	3	287	1	0	0	0	0	1	0	0	0	4872	1609	56	5	2297	5	E2F7	12	77444416	Missense_Mutation	SNP	T	TCGA-25-1317-01A-01W-0490-10	27396819	77444416	56407479	24	15850											
CDH24	64403	hgsc.bcm.edu	37	14	23518878	23518878	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr14:23518878G>C	ENST00000267383.5	-	10	1761	c.1669C>G	c.(1669-1671)Cct>Gct	p.P557A	CDH24_ENST00000554034.1_Missense_Mutation_p.P519A|CDH24_ENST00000487137.2_Missense_Mutation_p.P519A|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000397359.3_Missense_Mutation_p.P557A			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.P519A(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGCCCAGAGGACCTTGAAAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	14											85	74	77					14																	23518878		2203	4300	6503	22588718	SO:0001583	missense	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1669C>G	14.37:g.23518878G>C	ENSP00000267383:p.Pro557Ala		22588718	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032786	0.19590	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	4.7	4.7	0.59300	Cadherin (2);Cadherin-like (1);	0.302777	0.30658	N	0.009148	T	0.30634	0.0771	N	0.22421	0.69	0.25237	N	0.989785	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.05435	-1.0885	10	0.54805	T	0.06	.	12.2657	0.54676	0.0:0.0:0.8294:0.1706	.	519;557	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	A	557;519;519;557	ENSP00000380517:P557A;ENSP00000434821:P519A;ENSP00000452493:P519A;ENSP00000267383:P557A	ENSP00000267383:P557A	P	-	1	0	CDH24	22588718	0.009000	0.17119	0.992000	0.48379	0.939000	0.58152	0.689000	0.25437	2.448000	0.82819	0.555000	0.69702	CCT		0.562	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		C	23518878	G	C	23518878	3	2	287	1	0	0	0	0	1	0	0	0	3109	1174	41	3	802	3	CDH24	14	23518878	Missense_Mutation	SNP	G	TCGA-25-1317-01A-01W-0490-10		23518878	83830662	25	15851											
ZFP36L1	677	hgsc.bcm.edu	37	14	69259623	69259623	+	Silent	SNP	G	G	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr14:69259623G>A	ENST00000439696.2	-	1	334	c.33C>T	c.(31-33)ttC>ttT	p.F11F	ZFP36L1_ENST00000555997.1_5'Flank|ZFP36L1_ENST00000336440.3_Silent_p.F11F	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	11					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F11L(1)|p.F11F(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGCTCAAGTCGAAGATGGTGG	0.547																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|breast(1)	14											148	149	148					14																	69259623		2203	4300	6503	68329376	SO:0001819	synonymous_variant	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.33C>T	14.37:g.69259623G>A			68329376	Q13851	Silent	SNP	ENST00000439696.2	37	CCDS9791.1																																																																																				0.547	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			A	69259623	G	A	69259623	2	1	287	1	0	0	0	0	0	0	0	1	17646	1049	37	1		1	ZFP36L1	14	69259623	Silent	SNP	G	TCGA-25-1317-01A-01W-0490-10	45740745	69259623	38089917	26	15852											
DPF3	8110	hgsc.bcm.edu	37	14	73220034	73220034	+	Missense_Mutation	SNP	C	C	T	rs530932479		TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr14:73220034C>T	ENST00000556509.1	-	3	238	c.239G>A	c.(238-240)cGc>cAc	p.R80H	DPF3_ENST00000546183.1_Missense_Mutation_p.R90H|DPF3_ENST00000541685.1_Missense_Mutation_p.R80H	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	80					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.R79H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCTCTTCTTGCGCCAGCAGCG	0.567													C|||	1	0.000199681	0	0	5008	,	,		19610	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	14											55	55	55					14																	73220034		1893	4114	6007	72289787	SO:0001583	missense	8110			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.239G>A	14.37:g.73220034C>T	ENSP00000450518:p.Arg80His		72289787	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37		.	.	.	.	.	.	.	.	.	.	C	24.8	4.571914	0.86542	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.93659	-3.26;-0.84;-0.8	5.58	4.69	0.59074	.	.	.	.	.	D	0.96281	0.8787	M	0.81942	2.565	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.991	D	0.96404	0.9299	9	0.87932	D	0	.	11.7928	0.52080	0.0:0.9171:0.0:0.0829	.	90;80;80	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	H	80;80;79;80;90	ENSP00000450518:R80H;ENSP00000441640:R80H;ENSP00000444662:R90H	ENSP00000381791:R135H	R	-	2	0	DPF3	72289787	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.726000	0.68515	1.367000	0.46095	0.561000	0.74099	CGC		0.567	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			T	73220034	C	T	73220034	3	4	287	1	0	0	0	0	1	0	0	0	4718	768	27	1	862	1	DPF3	14	73220034	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10	3960411	73220034	34129506	27	15853											
PTPN21	11099	hgsc.bcm.edu	37	14	88935845	88935845	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr14:88935845A>G	ENST00000556564.1	-	17	3517	c.3233T>C	c.(3232-3234)tTa>tCa	p.L1078S	PTPN21_ENST00000328736.3_Missense_Mutation_p.L1078S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1078	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.L1078S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCACTCACATAAAAATCCCTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	14											57	61	60					14																	88935845		2203	4300	6503	88005598	SO:0001583	missense	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.3233T>C	14.37:g.88935845A>G	ENSP00000452414:p.Leu1078Ser		88005598		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434305	0.83776	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000553531	D;D;D	0.86432	-2.12;-2.12;-2.12	5.68	5.68	0.88126	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000002	D	0.94837	0.8332	M	0.91612	3.225	0.42866	D	0.99412	D	0.89917	1.0	D	0.97110	1.0	D	0.96013	0.9003	10	0.87932	D	0	.	15.9249	0.79609	1.0:0.0:0.0:0.0	.	1078	Q16825	PTN21_HUMAN	S	1078;1078;39	ENSP00000330276:L1078S;ENSP00000452414:L1078S;ENSP00000450847:L39S	ENSP00000330276:L1078S	L	-	2	0	PTPN21	88005598	1.000000	0.71417	0.057000	0.19452	0.936000	0.57629	9.324000	0.96373	2.170000	0.68504	0.459000	0.35465	TTA		0.453	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			G	88935845	A	G	88935845	3	3	287	1	0	0	0	0	1	0	0	0	12789	372	13	4	303	4	PTPN21	14	88935845	Missense_Mutation	SNP	A	TCGA-25-1317-01A-01W-0490-10	15715811	88935845	18413695	28	15854											
SCG5	6447	hgsc.bcm.edu	37	15	32988782	32988782	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr15:32988782T>C	ENST00000300175.4	+	6	721	c.611T>C	c.(610-612)tTt>tCt	p.F204S	SCG5_ENST00000413748.2_Missense_Mutation_p.F203S|SCG5_ENST00000497208.1_Missense_Mutation_p.F186S|SCG5_ENST00000494364.1_Missense_Mutation_p.F185S|SCG5_ENST00000498069.1_3'UTR	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	204					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)	p.F204S(1)		lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		GTCCCCCATTTTTCAGATGAG	0.408																																																1	Substitution - Missense(1)	ovary(1)	15											91	85	87					15																	32988782		1912	4126	6038	30776074	SO:0001583	missense	6447			Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"prohormone convertase chaperone"	173120	"secretory granule, neuroendocrine protein 1 (7B2 protein)"	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.611T>C	15.37:g.32988782T>C	ENSP00000300175:p.Phe204Ser		30776074	P01164|Q6FHD0|Q9BS38	Missense_Mutation	SNP	ENST00000300175.4	37	CCDS45207.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940718	0.73557	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000494364;ENST00000497208	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.68317	2.08	0.80722	D	1	P;P	0.46512	0.879;0.879	P;P	0.50314	0.637;0.511	T	0.74827	-0.3532	9	0.87932	D	0	.	14.7432	0.69472	0.0:0.0:0.0:1.0	.	204;203	P05408;Q6FHD0	7B2_HUMAN;.	S	204;203;185;186	.	ENSP00000300175:F204S	F	+	2	0	SCG5	30776074	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.549000	0.73900	2.068000	0.61886	0.460000	0.39030	TTT		0.408	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355438.1	NM_003020		C	32988782	T	C	32988782	3	2	287	1	0	0	0	0	1	0	0	0	13896	1841	64	4	629	4	SCG5	15	32988782	Missense_Mutation	SNP	T	TCGA-25-1317-01A-01W-0490-10		32988782	69542610	29	15855											
ZFP106	64397	hgsc.bcm.edu	37	15	42734333	42734333	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr15:42734333T>C	ENST00000263805.4	-	7	3958	c.3632A>G	c.(3631-3633)aAt>aGt	p.N1211S	ZNF106_ENST00000565380.1_Missense_Mutation_p.N439S|ZNF106_ENST00000565611.1_Missense_Mutation_p.N396S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1211					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N1211S(1)									AGCATTCACATTCTCATCTTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	15											184	165	172					15																	42734333		2203	4299	6502	40521625	SO:0001583	missense	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3632A>G	15.37:g.42734333T>C	ENSP00000263805:p.Asn1211Ser		40521625	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	9.107	1.005669	0.19199	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.59364	0.27	5.44	-4.22	0.03800	.	0.665589	0.15217	N	0.274139	T	0.39989	0.1099	L	0.44542	1.39	0.18873	N	0.999982	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.002	T	0.14172	-1.0482	10	0.27082	T	0.32	-0.6926	6.9252	0.24412	0.0:0.2369:0.3043:0.4587	.	439;1211;439	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	S	1211;439	ENSP00000263805:N1211S	ENSP00000263805:N1211S	N	-	2	0	ZFP106	40521625	0.747000	0.28283	0.001000	0.08648	0.733000	0.41908	-0.169000	0.09911	-1.502000	0.01814	-1.255000	0.01485	AAT		0.463	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		C	42734333	T	C	42734333	3	2	287	1	0	0	0	0	1	0	0	0	17637	1493	52	4	2071	4	ZFP106	15	42734333	Missense_Mutation	SNP	T	TCGA-25-1317-01A-01W-0490-10	9745551	42734333	59797059	30	15856											
DYX1C1	161582	hgsc.bcm.edu	37	15	55722919	55722919	+	Silent	SNP	A	A	T			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr15:55722919A>T	ENST00000321149.3	-	10	1579	c.1212T>A	c.(1210-1212)atT>atA	p.I404I	DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000457155.2_Nonsense_Mutation_p.L369*|DYX1C1_ENST00000348518.3_Nonsense_Mutation_p.L369*|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	404					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)	p.I404I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TCTCAGCATCAATTTGTACAA	0.284																																																1	Substitution - coding silent(1)	ovary(1)	15											126	126	126					15																	55722919		2192	4290	6482	53510211	SO:0001819	synonymous_variant	161582				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.1212T>A	15.37:g.55722919A>T			53510211	Q6P5Y9|Q8N1S6	Nonsense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.074039	0.76415	.	.	ENSG00000256061	ENST00000457155;ENST00000348518	.	.	.	5.6	-2.2	0.06994	.	.	.	.	.	.	.	.	.	.	.	0.26427	N	0.975997	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.6396	0.12541	0.324:0.0:0.335:0.341	.	.	.	.	X	369	.	ENSP00000299561:L369X	L	-	2	0	DYX1C1	53510211	0.494000	0.26043	0.994000	0.49952	0.948000	0.59901	0.024000	0.13555	-0.212000	0.10109	0.456000	0.33151	TTG		0.284	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		T	55722919	A	T	55722919	2	4	287	1	0	0	0	0	0	0	0	1	4862	131	5	5		5	DYX1C1	15	55722919	Silent	SNP	A	TCGA-25-1317-01A-01W-0490-10	12988586	55722919	46808473	31	15857											
TFAP4	7023	hgsc.bcm.edu	37	16	4312652	4312652	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr16:4312652C>T	ENST00000204517.6	-	2	468	c.140G>A	c.(139-141)cGg>cAg	p.R47Q		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	47					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.R47Q(1)		NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCGCCGAATCCGCCGCTCCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											88	91	90					16																	4312652		2197	4300	6497	4252653	SO:0001583	missense	7023			X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.140G>A	16.37:g.4312652C>T	ENSP00000204517:p.Arg47Gln		4252653	O60409	Missense_Mutation	SNP	ENST00000204517.6	37	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829840	0.91036	.	.	ENSG00000090447	ENST00000204517	D	0.98876	-5.2	5.57	5.57	0.84162	Helix-loop-helix DNA-binding (2);	0.000000	0.64402	D	0.000001	D	0.97639	0.9226	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.99888	1.1127	10	0.62326	D	0.03	.	18.3242	0.90247	0.0:1.0:0.0:0.0	.	47	Q01664	TFAP4_HUMAN	Q	47	ENSP00000204517:R47Q	ENSP00000204517:R47Q	R	-	2	0	TFAP4	4252653	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.192000	0.77771	2.618000	0.88619	0.591000	0.81541	CGG		0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		T	4312652	C	T	4312652	3	4	287	1	0	0	0	0	1	0	0	0	15792	652	23	1	900	1	TFAP4	16	4312652	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10		4312652	86042101	32	15858											
JMJD5	79831	hgsc.bcm.edu	37	16	27221505	27221505	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr16:27221505G>T	ENST00000286096.4	+	2	234	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	KDM8_ENST00000568965.1_Missense_Mutation_p.A21S|KDM8_ENST00000380948.2_Missense_Mutation_p.A21S|KDM8_ENST00000441782.2_Missense_Mutation_p.A59S	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	21					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)	p.A21S(1)									TTTATGGGAGGCCCTCAGGGC	0.632																																																1	Substitution - Missense(1)	ovary(1)	16											51	51	51					16																	27221505		2196	4299	6495	27129006	SO:0001583	missense	79831			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"Chromatin-modifying enzymes / K-demethylases"	25840	protein-coding gene	gene with protein product		611917	"jumonji domain containing 5"	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.61G>T	16.37:g.27221505G>T	ENSP00000286096:p.Ala21Ser		27129006	B4DLU9|Q6VAK5|Q9H8B1	Missense_Mutation	SNP	ENST00000286096.4	37	CCDS10627.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387415	0.42308	.	.	ENSG00000155666	ENST00000380948;ENST00000286096;ENST00000441782	T;T	0.22539	1.99;1.95	5.52	3.56	0.40772	.	5.646350	0.00357	N	0.000022	T	0.22859	0.0552	L	0.54323	1.7	0.21386	N	0.999707	B;B;B	0.33171	0.053;0.4;0.017	B;B;B	0.30855	0.019;0.121;0.006	T	0.23655	-1.0182	10	0.23891	T	0.37	-13.7018	6.8103	0.23801	0.157:0.1446:0.6984:0.0	.	59;21;21	Q8N371-3;Q8N371-2;Q8N371	.;.;KDM8_HUMAN	S	21;21;59	ENSP00000286096:A21S;ENSP00000398410:A59S	ENSP00000286096:A21S	A	+	1	0	JMJD5	27129006	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	1.754000	0.38369	0.693000	0.31634	0.561000	0.74099	GCC		0.632	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		T	27221505	G	T	27221505	3	4	287	1	0	0	0	0	1	0	0	0	7952	1203	42	3	181	3	JMJD5	16	27221505	Missense_Mutation	SNP	G	TCGA-25-1317-01A-01W-0490-10	22908853	27221505	63133248	33	15859											
CHRNB1	1140	hgsc.bcm.edu	37	17	7358671	7358671	+	Silent	SNP	G	G	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr17:7358671G>A	ENST00000306071.2	+	9	1180	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	CHRNB1_ENST00000536404.2_Silent_p.P299P|CHRNB1_ENST00000576360.1_Silent_p.P250P|CHRNB1_ENST00000575379.1_5'Flank	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	371					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.P371P(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	ACCTGATGCCGGAGCCCCCTC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	17											99	104	102					17																	7358671		2203	4300	6503	7299395	SO:0001819	synonymous_variant	1140			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1113G>A	17.37:g.7358671G>A			7299395	B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	CCDS11106.1																																																																																				0.537	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			A	7358671	G	A	7358671	2	1	287	1	0	0	0	0	0	0	0	1	3390	1103	39	1		1	CHRNB1	17	7358671	Silent	SNP	G	TCGA-25-1317-01A-01W-0490-10		7358671	73836539	34	15860											
TP53	7157	hgsc.bcm.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	A	rs28934575|rs397516437		TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr17:7577548C>A	ENST00000269305.4	-	7	922	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C|TP53_ENST00000420246.2_Missense_Mutation_p.G245C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245C	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	17	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575						149	112	125					17																	7577548		2203	4300	6503	7518273	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.733G>T	17.37:g.7577548C>A	ENSP00000269305:p.Gly245Cys		7518273	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579580	0.86645	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245C;ENSP00000352610:G245C;ENSP00000269305:G245C;ENSP00000398846:G245C;ENSP00000391127:G245C;ENSP00000391478:G245C;ENSP00000425104:G113C;ENSP00000423862:G152C	ENSP00000269305:G245C	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577548	C	A	7577548	3	1	287	1	0	0	0	0	1	0	0	0	16381	652	23	3	557	3	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10	218877	7577548	73617662	35	15861											
TBCD	6904	hgsc.bcm.edu	37	17	80890559	80890559	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr17:80890559C>G	ENST00000355528.4	+	34	3269	c.3139C>G	c.(3139-3141)Ctg>Gtg	p.L1047V	TBCD_ENST00000539345.2_Missense_Mutation_p.L1047V	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1047					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.L1047V(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCTGAAGACGCTGGACCACGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	17											60	65	63					17																	80890559		2156	4254	6410	78483848	SO:0001583	missense	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.3139C>G	17.37:g.80890559C>G	ENSP00000347719:p.Leu1047Val		78483848	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442008	0.25900	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000539345	T;T	0.75477	-0.94;2.0	4.28	2.22	0.28083	Armadillo-like helical (1);Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.74435	0.3716	M	0.72894	2.215	0.80722	D	1	P;P	0.48640	0.913;0.825	P;P	0.49301	0.606;0.471	T	0.71137	-0.4680	9	.	.	.	.	6.7076	0.23260	0.0:0.7054:0.0:0.2946	.	1047;1047	Q9BTW9;Q9BTW9-4	TBCD_HUMAN;.	V	1047;798;39	ENSP00000347719:L1047V;ENSP00000440671:L39V	.	L	+	1	2	TBCD	78483848	1.000000	0.71417	0.553000	0.28255	0.022000	0.10575	1.681000	0.37618	0.527000	0.28560	0.655000	0.94253	CTG		0.577	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		G	80890559	C	G	80890559	3	3	287	1	0	0	0	0	1	0	0	0	15633	796	28	3	3273	3	TBCD	17	80890559	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10	73313011	80890559	304651	36	15862											
ANKRD24	170961	hgsc.bcm.edu	37	19	4210079	4210079	+	Frame_Shift_Del	DEL	C	C	-			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr19:4210079delC	ENST00000600132.1	+	12	1171	c.895delC	c.(895-897)cagfs	p.Q299fs	ANKRD24_ENST00000595096.1_3'UTR|ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.Q389fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.Q299fs|RN7SL84P_ENST00000578969.1_RNA	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	299								p.Q389fs*29(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCATGGAAAGCAGGGGGCCCC	0.662																																																1	Deletion - Frameshift(1)	ovary(1)	19											18	22	21					19																	4210079		1842	4080	5922	4161079	SO:0001589	frameshift_variant	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.895delC	19.37:g.4210079delC	ENSP00000471252:p.Gln299fs		4161079	O75268|O95781	Frame_Shift_Del	DEL	ENST00000600132.1	37	CCDS45925.1																																																																																				0.662	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		-	4210079	C	-	4210079	7	5	287	1	0	1	0	1	0	0	0	0	653	711	25	0	937	0	ANKRD24	19	4210079	Frame_Shift_Del	DEL	C	TCGA-25-1317-01A-01W-0490-10		4210079	54918904	37	15863											
ZNF571	51276	hgsc.bcm.edu	37	19	38055894	38055894	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr19:38055894C>T	ENST00000328550.2	-	4	1535	c.1436G>A	c.(1435-1437)tGt>tAt	p.C479Y	ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C479Y|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.C479Y|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.C479Y|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	479					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.C479Y(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCTTCCCACATTCCTTACA	0.368																																																1	Substitution - Missense(1)	ovary(1)	19											92	87	89					19																	38055894		2203	4300	6503	42747734	SO:0001583	missense	51276			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1436G>A	19.37:g.38055894C>T	ENSP00000333660:p.Cys479Tyr		42747734	Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421600	0.62622	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	D;D;D	0.85861	-2.04;-2.04;-2.04	3.53	3.53	0.40419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93979	0.8072	H	0.94423	3.535	0.41343	D	0.987317	D	0.89917	1.0	D	0.97110	1.0	D	0.95649	0.8705	9	0.87932	D	0	.	13.9758	0.64273	0.0:1.0:0.0:0.0	.	479	Q7Z3V5	ZN571_HUMAN	Y	479	ENSP00000333660:C479Y;ENSP00000392638:C479Y;ENSP00000351594:C479Y	ENSP00000333660:C479Y	C	-	2	0	ZNF571	42747734	1.000000	0.71417	0.691000	0.30163	0.839000	0.47603	6.568000	0.73987	1.783000	0.52377	0.305000	0.20034	TGT		0.368	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		T	38055894	C	T	38055894	3	4	287	1	0	0	0	0	1	0	0	0	18003	478	17	2	397	2	ZNF571	19	38055894	Missense_Mutation	SNP	C	TCGA-25-1317-01A-01W-0490-10	33845815	38055894	21073089	38	15864											
CAPN12	147968	hgsc.bcm.edu	37	19	39234612	39234612	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr19:39234612G>A	ENST00000328867.4	-	1	502	c.194C>T	c.(193-195)cCg>cTg	p.P65L	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	65	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.P65L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTCCGAGTCCGGCCCCAGCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											73	58	63					19																	39234612		2203	4300	6503	43926452	SO:0001583	missense	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.194C>T	19.37:g.39234612G>A	ENSP00000331636:p.Pro65Leu		43926452		Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.984990	0.53934	.	.	ENSG00000182472	ENST00000328867	T	0.52057	0.68	4.74	3.71	0.42584	Peptidase C2, calpain, catalytic domain (3);	0.205245	0.32753	N	0.005696	T	0.69735	0.3144	M	0.88640	2.97	0.58432	D	0.999991	D	0.89917	1.0	D	0.71414	0.973	T	0.74682	-0.3583	10	0.87932	D	0	.	10.3601	0.43989	0.0963:0.0:0.9037:0.0	.	65	Q6ZSI9	CAN12_HUMAN	L	65	ENSP00000331636:P65L	ENSP00000331636:P65L	P	-	2	0	CAPN12	43926452	1.000000	0.71417	0.422000	0.26621	0.308000	0.27856	3.498000	0.53302	1.234000	0.43709	0.457000	0.33378	CCG		0.622	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			A	39234612	G	A	39234612	3	1	287	1	0	0	0	0	1	0	0	0	2625	1116	39	1	2049	1	CAPN12	19	39234612	Missense_Mutation	SNP	G	TCGA-25-1317-01A-01W-0490-10	1178718	39234612	19894371	39	15865											
PSMC4	5704	hgsc.bcm.edu	37	19	40485749	40485749	+	Silent	SNP	G	G	A	rs11542837		TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr19:40485749G>A	ENST00000157812.2	+	7	897	c.699G>A	c.(697-699)tcG>tcA	p.S233S	PSMC4_ENST00000455878.2_Silent_p.S202S	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	233					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S233S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGTGGGCTCGGAGTTTGTAC	0.557																																					Colon(105;1478 1543 4034 6132 38638)											1	Substitution - coding silent(1)	ovary(1)	19						G	,	0,4406		0,0,2203	97	103	101		699,606	-12.1	0	19	dbSNP_120	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PSMC4	NM_006503.2,NM_153001.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	233/419,202/388	40485749	1,13005	2203	4300	6503	45177589	SO:0001819	synonymous_variant	5704			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.699G>A	19.37:g.40485749G>A			45177589	Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	37	CCDS12547.1																																																																																				0.557	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		A	40485749	G	A	40485749	2	1	287	1	0	0	0	0	0	0	0	1	12692	1103	39	1		1	PSMC4	19	40485749	Silent	SNP	G	TCGA-25-1317-01A-01W-0490-10	1251137	40485749	18643234	40	15866											
CHD6	84181	hgsc.bcm.edu	37	20	40084604	40084604	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr20:40084604T>C	ENST00000373233.3	-	19	3022	c.2845A>G	c.(2845-2847)Aaa>Gaa	p.K949E	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	949	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.K949E(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCTCCATTTTTGAGAGCTGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	20											159	152	154					20																	40084604		2203	4300	6503	39518018	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2845A>G	20.37:g.40084604T>C	ENSP00000362330:p.Lys949Glu		39518018	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744203	0.89663	.	.	ENSG00000124177	ENST00000373233	D	0.85013	-1.93	5.73	5.73	0.89815	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000008	D	0.89959	0.6866	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90913	0.4777	10	0.87932	D	0	-23.021	16.3123	0.82883	0.0:0.0:0.0:1.0	.	949	Q8TD26	CHD6_HUMAN	E	949	ENSP00000362330:K949E	ENSP00000362330:K949E	K	-	1	0	CHD6	39518018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.027000	0.88791	2.308000	0.77769	0.533000	0.62120	AAA		0.448	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			C	40084604	T	C	40084604	3	2	287	1	0	0	0	0	1	0	0	0	3329	1850	64	4	5378	4	CHD6	20	40084604	Missense_Mutation	SNP	T	TCGA-25-1317-01A-01W-0490-10		40084604	22940916	41	15867											
KRTAP27-1	643812	hgsc.bcm.edu	37	21	31709440	31709440	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1317-01A-01W-0490-10	TCGA-25-1317-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	668a158c-5916-49b3-bcce-860d5daa5f13	33606a67-2fa0-4025-9dd0-e7ed280f08bf	g.chr21:31709440G>A	ENST00000382835.2	-	1	572	c.547C>T	c.(547-549)Cca>Tca	p.P183S		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	183						intermediate filament (GO:0005882)		p.P183S(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						AGGAGTTGTGGCTCAGGTGCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	21											89	85	87					21																	31709440		2203	4300	6503	30631311	SO:0001583	missense	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.547C>T	21.37:g.31709440G>A	ENSP00000372286:p.Pro183Ser		30631311		Missense_Mutation	SNP	ENST00000382835.2	37	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	G	0.922	-0.715497	0.03206	.	.	ENSG00000206107	ENST00000382835	T	0.48201	0.82	4.17	-2.68	0.06041	.	1.019820	0.07859	N	0.965917	T	0.20780	0.0500	N	0.05510	-0.035	0.09310	N	1	B	0.28971	0.229	B	0.31245	0.126	T	0.18053	-1.0349	10	0.19590	T	0.45	0.1452	1.2078	0.01899	0.1777:0.1384:0.2606:0.4233	.	183	Q3LI81	KR271_HUMAN	S	183	ENSP00000372286:P183S	ENSP00000372286:P183S	P	-	1	0	KRTAP27-1	30631311	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.651000	0.05372	-0.545000	0.06224	-0.302000	0.09304	CCA		0.468	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		A	31709440	G	A	31709440	3	1	287	1	0	0	0	0	1	0	0	0	8544	1203	42	2	80	2	KRTAP27-1	21	31709440	Missense_Mutation	SNP	G	TCGA-25-1317-01A-01W-0490-10		31709440	16420455	42	15868											
LPHN2	23266	hgsc.bcm.edu	37	1	82302706	82302706	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:82302706T>C	ENST00000370728.1	+	5	682	c.37T>C	c.(37-39)Ttt>Ctt	p.F13L	LPHN2_ENST00000335786.5_Missense_Mutation_p.F13L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F13L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F13L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F13L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F13L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F13L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F13L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F13L|LPHN2_ENST00000370730.1_Missense_Mutation_p.F13L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F13L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F13L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F13L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F13L|LPHN2_ENST00000469377.2_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	13					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.F13L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGTCTGTGGTTTATCATTGT	0.328																																																1	Substitution - Missense(1)	ovary(1)	1											177	172	173					1																	82302706		2203	4300	6503	82075294	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.37T>C	1.37:g.82302706T>C	ENSP00000359763:p.Phe13Leu		82075294	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	T	8.164	0.790189	0.16258	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.27;-0.28;-0.28;-0.22;-0.22;-0.17;-0.23;-0.24;-0.23;-0.23;-0.22;-0.17;-0.22;-0.28	5.44	4.32	0.51571	.	0.625334	0.16213	N	0.224384	T	0.28200	0.0696	N	0.22421	0.69	0.33709	D	0.615571	B;B;B;B	0.22414	0.0;0.0;0.0;0.069	B;B;B;B	0.23419	0.001;0.001;0.001;0.046	T	0.06320	-1.0833	10	0.12430	T	0.62	.	7.1861	0.25801	0.0:0.2222:0.0:0.7778	.	13;13;13;13	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	L	13	ENSP00000359756:F13L;ENSP00000359763:F13L;ENSP00000359765:F13L;ENSP00000359762:F13L;ENSP00000359760:F13L;ENSP00000359758:F13L;ENSP00000353006:F13L;ENSP00000359750:F13L;ENSP00000359748:F13L;ENSP00000322270:F13L;ENSP00000359752:F13L;ENSP00000378344:F13L;ENSP00000271029:F13L;ENSP00000337306:F13L	ENSP00000271029:F13L	F	+	1	0	LPHN2	82075294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.429000	0.34903	2.070000	0.61991	0.383000	0.25322	TTT		0.328	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		C	82302706	T	C	82302706	3	2	288	1	0	0	0	0	1	0	0	0	8916	1725	60	4	39	4	LPHN2	1	82302706	Missense_Mutation	SNP	T	TCGA-25-1318-01A-01W-0490-10		82302706	166947915	1	15869											
IVL	3713	hgsc.bcm.edu	37	1	152883111	152883111	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:152883111A>T	ENST00000368764.3	+	2	902	c.838A>T	c.(838-840)Atg>Ttg	p.M280L	IVL_ENST00000392667.2_Missense_Mutation_p.M134L			P07476	INVO_HUMAN	involucrin	280	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.M280L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAGGAGCAGATGGGGCAGCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											17	16	16					1																	152883111		2054	4013	6067	151149735	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.838A>T	1.37:g.152883111A>T	ENSP00000357753:p.Met280Leu		151149735	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	5.329	0.246034	0.10077	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.09538	3.16;2.97	3.62	-1.79	0.07932	.	.	.	.	.	T	0.02012	0.0063	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44847	-0.9301	9	0.27785	T	0.31	.	10.6501	0.45642	0.1315:0.3007:0.5678:0.0	.	280	P07476	INVO_HUMAN	L	280;134	ENSP00000357753:M280L;ENSP00000376435:M134L	ENSP00000357753:M280L	M	+	1	0	IVL	151149735	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.175000	0.01263	-0.526000	0.06383	-1.032000	0.02404	ATG		0.637	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		T	152883111	A	T	152883111	3	4	288	1	0	0	0	0	1	0	0	0	7929	333	12	5	840	5	IVL	1	152883111	Missense_Mutation	SNP	A	TCGA-25-1318-01A-01W-0490-10	70580405	152883111	96367510	2	15870											
DCST2	127579	hgsc.bcm.edu	37	1	154999074	154999074	+	Missense_Mutation	SNP	C	C	A	rs201423942		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:154999074C>A	ENST00000368424.3	-	9	1518	c.1460G>T	c.(1459-1461)cGt>cTt	p.R487L	DCST2_ENST00000295536.5_Missense_Mutation_p.R487L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	487						integral component of membrane (GO:0016021)		p.R487L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGGAGACAACGCCGGGACAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											143	136	138					1																	154999074		2203	4300	6503	153265698	SO:0001583	missense	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1460G>T	1.37:g.154999074C>A	ENSP00000357409:p.Arg487Leu		153265698	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462772	0.43736	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.32272	1.46;1.46	4.96	4.04	0.47022	Dendritic cell-specific transmembrane protein-like (1);	0.246447	0.30901	N	0.008650	T	0.20414	0.0491	M	0.73598	2.24	0.36149	D	0.847323	P	0.44521	0.837	B	0.42916	0.402	T	0.04900	-1.0919	10	0.28530	T	0.3	-19.7931	10.3516	0.43939	0.0:0.907:0.0:0.093	.	487	Q5T1A1	DCST2_HUMAN	L	487	ENSP00000357409:R487L;ENSP00000295536:R487L	ENSP00000295536:R487L	R	-	2	0	DCST2	153265698	0.995000	0.38212	0.203000	0.23512	0.766000	0.43426	0.703000	0.25646	1.081000	0.41110	0.591000	0.81541	CGT		0.532	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		A	154999074	C	A	154999074	3	1	288	1	0	0	0	0	1	0	0	0	4303	536	19	3	889	3	DCST2	1	154999074	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	2115963	154999074	94251547	3	15871											
PAPPA2	60676	hgsc.bcm.edu	37	1	176759015	176759015	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:176759015G>A	ENST00000367662.3	+	18	5950	c.4786G>A	c.(4786-4788)Gag>Aag	p.E1596K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1596	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1596K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGGTGTGTGAGCCACCCCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											121	123	122					1																	176759015		2010	4168	6178	175025638	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4786G>A	1.37:g.176759015G>A	ENSP00000356634:p.Glu1596Lys		175025638	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873308	0.33069	.	.	ENSG00000116183	ENST00000367662	T	0.76316	-1.01	5.51	1.59	0.23543	Complement control module (1);Sushi/SCR/CCP (2);	0.451574	0.25572	N	0.029753	T	0.58552	0.2130	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.38067	-0.9678	10	0.18276	T	0.48	-8.5939	7.0308	0.24967	0.431:0.0:0.569:0.0	.	1596	Q9BXP8	PAPP2_HUMAN	K	1596	ENSP00000356634:E1596K	ENSP00000356634:E1596K	E	+	1	0	PAPPA2	175025638	0.999000	0.42202	0.981000	0.43875	0.793000	0.44817	1.385000	0.34408	0.298000	0.22638	-0.259000	0.10710	GAG		0.478	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			A	176759015	G	A	176759015	3	1	288	1	0	0	0	0	1	0	0	0	11433	1291	45	2	4905	2	PAPPA2	1	176759015	Missense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10	21759941	176759015	72491606	4	15872											
HMCN1	83872	hgsc.bcm.edu	37	1	186121953	186121953	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:186121953G>T	ENST00000271588.4	+	96	15197	c.14968G>T	c.(14968-14970)Gtg>Ttg	p.V4990L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4990L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4990	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.V4990L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATATCGTTGTGAGTGGCTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											239	208	219					1																	186121953		2203	4300	6503	184388576	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14968G>T	1.37:g.186121953G>T	ENSP00000271588:p.Val4990Leu		184388576	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331028	0.60853	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.19394	2.15;2.15	5.8	4.87	0.63330	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.053942	0.64402	N	0.000001	T	0.15652	0.0377	N	0.25890	0.77	0.53005	D	0.99996	B	0.25048	0.117	B	0.25884	0.064	T	0.04796	-1.0926	10	0.44086	T	0.13	.	10.956	0.47358	0.0695:0.1313:0.7992:0.0	.	4990	Q96RW7	HMCN1_HUMAN	L	4990	ENSP00000271588:V4990L;ENSP00000356462:V4990L	ENSP00000271588:V4990L	V	+	1	0	HMCN1	184388576	1.000000	0.71417	0.881000	0.34555	0.988000	0.76386	3.743000	0.55104	1.415000	0.47037	0.650000	0.86243	GTG		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186121953	G	T	186121953	3	4	288	1	0	0	0	0	1	0	0	0	7220	1377	48	3	15350	3	HMCN1	1	186121953	Missense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10	9362938	186121953	63128668	5	15873											
SERTAD4	56256	hgsc.bcm.edu	37	1	210412850	210412850	+	Missense_Mutation	SNP	G	G	A	rs148780972		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:210412850G>A	ENST00000367012.3	+	3	418	c.188G>A	c.(187-189)aGg>aAg	p.R63K	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	63						nucleus (GO:0005634)		p.R63K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TCACATTACAGGGGAATTTCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											84	87	86					1																	210412850		2203	4300	6503	208479473	SO:0001583	missense	56256			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.188G>A	1.37:g.210412850G>A	ENSP00000355979:p.Arg63Lys		208479473	B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	g	19.37	3.813861	0.70912	.	.	ENSG00000082497	ENST00000367012	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.34521	1.04	0.35501	D	0.799816	D	0.58970	0.984	D	0.68192	0.956	T	0.73675	-0.3908	9	0.72032	D	0.01	-9.1065	20.8645	0.99794	0.0:0.0:1.0:0.0	.	63	Q9NUC0	SRTD4_HUMAN	K	63	.	ENSP00000355979:R63K	R	+	2	0	SERTAD4	208479473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.475000	0.81041	2.937000	0.99478	0.651000	0.88453	AGG		0.398	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		A	210412850	G	A	210412850	3	1	288	1	0	0	0	0	1	0	0	0	14126	1000	35	2	194	2	SERTAD4	1	210412850	Missense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10	24290897	210412850	38837771	6	15874											
USH2A	7399	hgsc.bcm.edu	37	1	216011398	216011398	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:216011398T>A	ENST00000307340.3	-	47	9692	c.9306A>T	c.(9304-9306)caA>caT	p.Q3102H	USH2A_ENST00000366943.2_Missense_Mutation_p.Q3102H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3102	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q3102H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGTGGTAATTTGGGTTCCAT	0.363										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											244	221	229					1																	216011398		2203	4300	6503	214078021	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9306A>T	1.37:g.216011398T>A	ENSP00000305941:p.Gln3102His		214078021	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321511	0.41096	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	5.01	2.68	0.31781	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.341114	0.20952	N	0.082738	T	0.53417	0.1795	M	0.71296	2.17	0.42321	D	0.992257	D	0.71674	0.998	P	0.60173	0.87	T	0.55186	-0.8180	10	0.13853	T	0.58	.	4.0552	0.09813	0.1452:0.2297:0.0:0.6251	.	3102	O75445	USH2A_HUMAN	H	3102	ENSP00000305941:Q3102H;ENSP00000355910:Q3102H	ENSP00000305941:Q3102H	Q	-	3	2	USH2A	214078021	1.000000	0.71417	0.659000	0.29680	0.341000	0.28922	0.791000	0.26915	0.268000	0.21939	-0.266000	0.10368	CAA		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216011398	T	A	216011398	3	1	288	1	0	0	0	0	1	0	0	0	17036	1838	64	5	6406	5	USH2A	1	216011398	Missense_Mutation	SNP	T	TCGA-25-1318-01A-01W-0490-10	5598548	216011398	33239223	7	15875											
BIRC6	57448	hgsc.bcm.edu	37	2	32828095	32828095	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr2:32828095C>T	ENST00000421745.2	+	71	14149	c.14015C>T	c.(14014-14016)aCg>aTg	p.T4672M		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4672	Ubiquitin-conjugating.				apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.T4644M(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCTTAAACACGTGGCATGGA	0.338																																					Pancreas(94;175 1509 16028 18060 45422)											1	Substitution - Missense(1)	ovary(1)	2											110	103	105					2																	32828095		2203	4300	6503	32681599	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14015C>T	2.37:g.32828095C>T	ENSP00000393596:p.Thr4672Met		32681599	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919134	0.92249	.	.	ENSG00000115760	ENST00000421745	T	0.38887	1.11	5.23	5.23	0.72850	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71686	-0.4518	10	0.87932	D	0	.	19.1928	0.93674	0.0:1.0:0.0:0.0	.	4672	Q9NR09	BIRC6_HUMAN	M	4672	ENSP00000393596:T4672M	ENSP00000393596:T4672M	T	+	2	0	BIRC6	32681599	1.000000	0.71417	0.960000	0.40013	0.983000	0.72400	7.694000	0.84235	2.596000	0.87737	0.655000	0.94253	ACG		0.338	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32828095	C	T	32828095	3	4	288	1	0	0	0	0	1	0	0	0	1438	536	19	1	14297	1	BIRC6	2	32828095	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10		32828095	210371278	8	15876											
TTN	7273	hgsc.bcm.edu	37	2	179399720	179399720	+	Silent	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr2:179399720G>A	ENST00000591111.1	-	308	96923	c.96699C>T	c.(96697-96699)aaC>aaT	p.N32233N	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000460472.2_Silent_p.N24809N|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.N31306N|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.N25001N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.N33874N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.N24934N|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N31304N(1)|p.N24809N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGTAAGATGTTTCTATGCC	0.348																																																2	Substitution - coding silent(2)	ovary(2)	2											84	79	81					2																	179399720		1860	4104	5964	179107966	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96699C>T	2.37:g.179399720G>A			179107966	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179399720	G	A	179399720	2	1	288	1	0	0	0	0	0	0	0	1	16735	1368	48	2		2	TTN	2	179399720	Silent	SNP	G	TCGA-25-1318-01A-01W-0490-10	146571625	179399720	63799653	9	15877											
ITPR1	3708	hgsc.bcm.edu	37	3	4853092	4853092	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:4853092G>C	ENST00000443694.2	+	53	7371	c.7371G>C	c.(7369-7371)aaG>aaC	p.K2457N	ITPR1_ENST00000302640.8_Missense_Mutation_p.K2457N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K2424N|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_5'Flank|ITPR1_ENST00000544951.1_Missense_Mutation_p.K435N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K2424N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K2457N|ITPR1_ENST00000456211.2_Missense_Mutation_p.K2409N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2472					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.K2409N(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTTTCTTCAAGGATGACTTTA	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											141	141	141					3																	4853092		1946	4137	6083	4828092	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7371G>C	3.37:g.4853092G>C	ENSP00000401671:p.Lys2457Asn		4828092	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770490	0.69992	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.62	-1.45	0.08828	Ion transport (1);	0.135595	0.64402	D	0.000003	D	0.98157	0.9391	M	0.74647	2.275	0.48452	D	0.999657	P;P;D	0.57571	0.786;0.931;0.98	P;P;P	0.62813	0.688;0.816;0.907	D	0.96810	0.9596	10	0.48119	T	0.1	.	12.4203	0.55516	0.6013:0.0:0.3987:0.0	.	435;2472;2424	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	N	2472;2457;2457;2424;918;2424;2409;435;2457	ENSP00000306253:K2457N;ENSP00000346595:K2457N;ENSP00000405934:K2424N;ENSP00000349597:K2424N;ENSP00000397885:K2409N;ENSP00000440564:K435N;ENSP00000401671:K2457N	ENSP00000306253:K2457N	K	+	3	2	ITPR1	4828092	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	1.135000	0.31454	-0.162000	0.10964	0.563000	0.77884	AAG		0.423	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		C	4853092	G	C	4853092	3	2	288	1	0	0	0	0	1	0	0	0	7920	991	35	3	7630	3	ITPR1	3	4853092	Missense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10		4853092	193169338	10	15878											
C3orf23	285343	hgsc.bcm.edu	37	3	44409183	44409183	+	Silent	SNP	A	A	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:44409183A>G	ENST00000342649.4	+	5	982	c.555A>G	c.(553-555)agA>agG	p.R185R	TCAIM_ENST00000417237.1_Silent_p.R185R	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	185						mitochondrion (GO:0005739)		p.R185R(1)									AAGTCTCGAGAGTGGAAACAA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	3											39	37	38					3																	44409183		2203	4300	6503	44384187	SO:0001819	synonymous_variant	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.555A>G	3.37:g.44409183A>G			44384187	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	CCDS2712.1																																																																																				0.373	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		G	44409183	A	G	44409183	2	3	288	1	0	0	0	0	0	0	0	1	2216	301	11	4		4	C3orf23	3	44409183	Silent	SNP	A	TCGA-25-1318-01A-01W-0490-10	39556091	44409183	153613247	11	15879											
SRPRB	58477	hgsc.bcm.edu	37	3	133530019	133530019	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:133530019T>C	ENST00000466490.2	+	5	671	c.386T>C	c.(385-387)tTa>tCa	p.L129S		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	129					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.L129S(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTTCAGTTCTTAGAGCGGTTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											144	136	139					3																	133530019		2203	4300	6503	135012709	SO:0001583	missense	58477			AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.386T>C	3.37:g.133530019T>C	ENSP00000418401:p.Leu129Ser		135012709	Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652940	0.88056	.	.	ENSG00000144867	ENST00000466490	T	0.18016	2.24	5.44	5.44	0.79542	.	0.536673	0.17293	N	0.179571	T	0.45155	0.1328	M	0.76838	2.35	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	T	0.42865	-0.9426	10	0.72032	D	0.01	-7.3023	15.5068	0.75748	0.0:0.0:0.0:1.0	.	129	Q9Y5M8	SRPRB_HUMAN	S	129	ENSP00000418401:L129S	ENSP00000418401:L129S	L	+	2	0	SRPRB	135012709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.486000	0.81215	2.076000	0.62316	0.454000	0.30748	TTA		0.453	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			C	133530019	T	C	133530019	3	2	288	1	0	0	0	0	1	0	0	0	15165	1764	61	4	400	4	SRPRB	3	133530019	Missense_Mutation	SNP	T	TCGA-25-1318-01A-01W-0490-10	89120836	133530019	64492411	12	15880											
MCCC1	56922	hgsc.bcm.edu	37	3	182755055	182755055	+	Silent	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:182755055G>A	ENST00000265594.4	-	13	1691	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	MCCC1_ENST00000492597.1_Silent_p.L406L|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_Silent_p.L380L	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	515					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.L515L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCTTGAGGATGAGACCCAGGG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	3											119	103	109					3																	182755055		2203	4300	6503	184237749	SO:0001819	synonymous_variant	56922			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1545C>T	3.37:g.182755055G>A			184237749	Q59ES4|Q9H959|Q9NS97	Silent	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	8.594	0.885355	0.17540	.	.	ENSG00000078070	ENST00000448585	.	.	.	5.93	4.13	0.48395	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57365	-0.7824	4	.	.	.	.	10.168	0.42893	0.2054:0.0:0.7946:0.0	.	.	.	.	L	468	.	.	S	-	2	0	MCCC1	184237749	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	2.140000	0.42159	0.825000	0.34637	0.561000	0.74099	TCA		0.488	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		A	182755055	G	A	182755055	2	1	288	1	0	0	0	0	0	0	0	1	9374	1277	45	2		2	MCCC1	3	182755055	Silent	SNP	G	TCGA-25-1318-01A-01W-0490-10	49225036	182755055	15267375	13	15881											
EPHB3	2049	hgsc.bcm.edu	37	3	184295724	184295724	+	Missense_Mutation	SNP	A	A	C	rs148220856		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:184295724A>C	ENST00000330394.2	+	8	2130	c.1678A>C	c.(1678-1680)Atc>Ctc	p.I560L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	560					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.I560L(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTTCCCCTCATCGTGGGCTC	0.637																																																1	Substitution - Missense(1)	ovary(1)	3											111	104	106					3																	184295724		2203	4300	6503	185778418	SO:0001583	missense	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1678A>C	3.37:g.184295724A>C	ENSP00000332118:p.Ile560Leu		185778418	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863287	0.71949	.	.	ENSG00000182580	ENST00000330394	T	0.11930	2.73	5.04	5.04	0.67666	.	0.058505	0.64402	D	0.000003	T	0.14917	0.0360	L	0.52206	1.635	0.80722	D	1	B	0.27380	0.177	B	0.23716	0.048	T	0.02450	-1.1157	10	0.44086	T	0.13	.	13.9489	0.64104	1.0:0.0:0.0:0.0	.	560	P54753	EPHB3_HUMAN	L	560	ENSP00000332118:I560L	ENSP00000332118:I560L	I	+	1	0	EPHB3	185778418	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	9.280000	0.95786	1.892000	0.54788	0.368000	0.22195	ATC		0.637	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		C	184295724	A	C	184295724	3	2	288	1	0	0	0	0	1	0	0	0	5176	217	8	5	1708	5	EPHB3	3	184295724	Missense_Mutation	SNP	A	TCGA-25-1318-01A-01W-0490-10	1540669	184295724	13726706	14	15882											
BOD1L	259282	hgsc.bcm.edu	37	4	13612597	13612597	+	Silent	SNP	A	A	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr4:13612597A>G	ENST00000040738.5	-	6	1587	c.1452T>C	c.(1450-1452)tcT>tcC	p.S484S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	484	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S484S(1)									GCTCATCATCAGAATCACTAT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	4											219	198	205					4																	13612597		2203	4300	6503	13221695	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1452T>C	4.37:g.13612597A>G			13221695	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.348	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		G	13612597	A	G	13612597	2	3	288	1	0	0	0	0	0	0	0	1	1483	175	7	4		4	BOD1L	4	13612597	Silent	SNP	A	TCGA-25-1318-01A-01W-0490-10		13612597	177541679	15	15883											
CCDC158	339965	hgsc.bcm.edu	37	4	77283297	77283297	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr4:77283297C>T	ENST00000388914.3	-	12	2154	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	668								p.E668K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGTTTAATTCACTCCTACTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											115	113	113					4																	77283297		1926	4136	6062	77502321	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2002G>A	4.37:g.77283297C>T	ENSP00000373566:p.Glu668Lys		77502321	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181426	0.78677	.	.	ENSG00000163749	ENST00000388914	T	0.33865	1.39	5.74	5.74	0.90152	.	0.242590	0.32769	N	0.005672	T	0.26702	0.0653	N	0.19112	0.55	0.80722	D	1	P	0.42692	0.787	B	0.41510	0.359	T	0.03077	-1.1075	10	0.10111	T	0.7	.	17.7097	0.88318	0.0:1.0:0.0:0.0	.	668	Q5M9N0	CD158_HUMAN	K	668	ENSP00000373566:E668K	ENSP00000373566:E668K	E	-	1	0	CCDC158	77502321	0.991000	0.36638	0.079000	0.20413	0.792000	0.44763	3.229000	0.51278	2.716000	0.92895	0.563000	0.77884	GAA		0.408	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		T	77283297	C	T	77283297	3	4	288	1	0	0	0	0	1	0	0	0	2790	835	29	2	1391	2	CCDC158	4	77283297	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	63670700	77283297	113870979	16	15884											
ANK2	287	hgsc.bcm.edu	37	4	114179539	114179539	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr4:114179539A>G	ENST00000357077.4	+	13	1411	c.1358A>G	c.(1357-1359)aAc>aGc	p.N453S	ANK2_ENST00000264366.6_Missense_Mutation_p.N453S|ANK2_ENST00000394537.3_Missense_Mutation_p.N453S|ANK2_ENST00000506722.1_Missense_Mutation_p.N432S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	453					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.N453S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCTGCAGAACGGAGCCTCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	4											144	134	137					4																	114179539		2203	4300	6503	114398988	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1358A>G	4.37:g.114179539A>G	ENSP00000349588:p.Asn453Ser		114398988	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477094	0.44044	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.65916	-0.11;-0.11;-0.11;-0.18;-0.11;-0.11;-0.11	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000012	T	0.49729	0.1574	N	0.16201	0.385	0.80722	D	1	B;B;B;B;B	0.28324	0.201;0.035;0.078;0.036;0.207	B;B;B;B;B	0.32393	0.145;0.09;0.061;0.09;0.135	T	0.53858	-0.8379	10	0.72032	D	0.01	.	15.7332	0.77822	1.0:0.0:0.0:0.0	.	453;453;453;432;432	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	432;432;432;468;453;453;453;432	ENSP00000423799:N432S;ENSP00000421011:N432S;ENSP00000421067:N432S;ENSP00000424722:N468S;ENSP00000378044:N453S;ENSP00000349588:N453S;ENSP00000264366:N453S	ENSP00000264366:N453S	N	+	2	0	ANK2	114398988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.314000	0.65804	2.119000	0.64992	0.460000	0.39030	AAC		0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		G	114179539	A	G	114179539	3	3	288	1	0	0	0	0	1	0	0	0	621	43	2	4	1433	4	ANK2	4	114179539	Missense_Mutation	SNP	A	TCGA-25-1318-01A-01W-0490-10	36896242	114179539	76974737	17	15885											
TARS	6897	hgsc.bcm.edu	37	5	33461146	33461146	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr5:33461146C>G	ENST00000265112.3	+	12	1701	c.1390C>G	c.(1390-1392)Cac>Gac	p.H464D	TARS_ENST00000502553.1_Missense_Mutation_p.H464D|TARS_ENST00000541634.1_Missense_Mutation_p.H360D|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000414361.2_Missense_Mutation_p.H343D|TARS_ENST00000455217.2_Missense_Mutation_p.H497D	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	464					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.H464D(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GGATGATGCTCACATATTCTG	0.448																																																1	Substitution - Missense(1)	ovary(1)	5											80	79	80					5																	33461146		2203	4300	6503	33496903	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1390C>G	5.37:g.33461146C>G	ENSP00000265112:p.His464Asp		33496903	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984845	0.93044	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.92864	0.7730	H	0.99992	5.345	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;D;D	0.91635	0.999;0.991;0.929;0.991	D	0.95902	0.8916	10	0.87932	D	0	0.2031	20.8794	0.99867	0.0:1.0:0.0:0.0	.	343;497;360;464	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	D	464;464;360;497;343	ENSP00000424387:H464D;ENSP00000265112:H464D;ENSP00000438469:H360D;ENSP00000387710:H497D;ENSP00000394291:H343D	ENSP00000265112:H464D	H	+	1	0	TARS	33496903	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	CAC		0.448	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		G	33461146	C	G	33461146	3	3	288	1	0	0	0	0	1	0	0	0	15559	826	29	3	1436	3	TARS	5	33461146	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10		33461146	147454114	18	15886											
F13A1	2162	hgsc.bcm.edu	37	6	6222389	6222389	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr6:6222389C>A	ENST00000264870.3	-	8	1254	c.989G>T	c.(988-990)gGa>gTa	p.G330V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	330					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G330V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGCTGGTATTCCAAGGCATCG	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											107	92	97					6																	6222389		2203	4300	6503	6167388	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.989G>T	6.37:g.6222389C>A	ENSP00000264870:p.Gly330Val		6167388	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.639149|4.639149	0.87760|0.87760	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.99552	.|-6.15	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Transglutaminase, conserved site (1);Transglutaminase-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.99819	.|0.9920	H|H	0.96547|0.96547	3.84|3.84	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	.|D	.|0.97142	.|0.9825	.|10	.|0.87932	.|D	.|0	.|.	18.9739|18.9739	0.92728|0.92728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|267;330	.|F5H080;P00488	.|.;F13A_HUMAN	X|V	47|330;267	.|ENSP00000264870:G330V	.|ENSP00000264870:G330V	E|G	-|-	1|2	0|0	F13A1|F13A1	6167388|6167388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.093000|7.093000	0.76937|0.76937	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.403	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		A	6222389	C	A	6222389	3	1	288	1	0	0	0	0	1	0	0	0	5340	855	30	3	1241	3	F13A1	6	6222389	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10		6222389	164892678	19	15887											
DST	667	hgsc.bcm.edu	37	6	56422287	56422287	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr6:56422287T>A	ENST00000361203.3	-	55	13844	c.13837A>T	c.(13837-13839)Aca>Tca	p.T4613S	DST_ENST00000370754.5_Missense_Mutation_p.T4793S|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.T2201S|DST_ENST00000370769.4_Missense_Mutation_p.T4615S|DST_ENST00000421834.2_Missense_Mutation_p.T2527S|DST_ENST00000446842.2_Missense_Mutation_p.T4289S|DST_ENST00000370788.2_Missense_Mutation_p.T2527S			Q03001	DYST_HUMAN	dystonin	4613					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.T4615S(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTATCAATTGTTAATTGATTG	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											117	105	109					6																	56422287		1804	4070	5874	56530246	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13837A>T	6.37:g.56422287T>A	ENSP00000354508:p.Thr4613Ser		56530246	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	18.38	3.610518	0.66558	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000029	T	0.46386	0.1390	M	0.72894	2.215	0.24242	N	0.995352	P;P;P;P;P	0.52316	0.454;0.952;0.952;0.454;0.553	B;P;P;B;B	0.57720	0.266;0.826;0.826;0.138;0.281	T	0.52185	-0.8609	9	0.21540	T	0.41	.	8.8346	0.35104	0.0:0.1394:0.0:0.8606	.	2527;4615;4793;4613;2201	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	2201;4793;4615;2527;4289;2527;4613	ENSP00000244364:T2201S;ENSP00000359790:T4793S;ENSP00000359805:T4615S;ENSP00000400883:T2527S;ENSP00000393645:T4289S;ENSP00000359824:T2527S;ENSP00000354508:T4613S	ENSP00000244364:T2201S	T	-	1	0	DST	56530246	0.999000	0.42202	0.999000	0.59377	0.989000	0.77384	2.897000	0.48664	2.371000	0.80710	0.533000	0.62120	ACA		0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56422287	T	A	56422287	3	1	288	1	0	0	0	0	1	0	0	0	4783	1725	60	5	9094	5	DST	6	56422287	Missense_Mutation	SNP	T	TCGA-25-1318-01A-01W-0490-10	50199898	56422287	114692780	20	15888											
SESN1	27244	hgsc.bcm.edu	37	6	109323516	109323516	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr6:109323516C>G	ENST00000356644.7	-	2	227	c.133G>C	c.(133-135)Gga>Cga	p.G45R	SESN1_ENST00000436639.2_Missense_Mutation_p.G104R|SESN1_ENST00000302071.2_5'UTR	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	45					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)		p.G104R(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GGTCCCTGTCCTAGTGGTCGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	6											158	131	140					6																	109323516		2203	4300	6503	109430209	SO:0001583	missense	27244			AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.133G>C	6.37:g.109323516C>G	ENSP00000349061:p.Gly45Arg		109430209	Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637664	0.47049	.	.	ENSG00000080546	ENST00000436639;ENST00000356644	T;T	0.17054	2.3;2.31	5.58	4.71	0.59529	.	0.047911	0.85682	D	0.000000	T	0.23249	0.0562	L	0.57536	1.79	0.80722	D	1	B;D	0.89917	0.432;1.0	P;D	0.91635	0.513;0.999	T	0.05007	-1.0912	10	0.13853	T	0.58	-18.274	15.9296	0.79648	0.1361:0.8639:0.0:0.0	.	104;45	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	R	104;45	ENSP00000393762:G104R;ENSP00000349061:G45R	ENSP00000349061:G45R	G	-	1	0	SESN1	109430209	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.398000	0.79919	1.345000	0.45676	-0.169000	0.13324	GGA		0.423	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		G	109323516	C	G	109323516	3	3	288	1	0	0	0	0	1	0	0	0	14127	690	24	3	1381	3	SESN1	6	109323516	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	52901229	109323516	61791551	21	15889											
ADAM22	53616	hgsc.bcm.edu	37	7	87782583	87782583	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr7:87782583G>C	ENST00000265727.7	+	21	1808	c.1729G>C	c.(1729-1731)Ggg>Cgg	p.G577R	ADAM22_ENST00000398204.4_Missense_Mutation_p.G577R|ADAM22_ENST00000398201.4_Missense_Mutation_p.G577R|ADAM22_ENST00000398209.3_Missense_Mutation_p.G577R|ADAM22_ENST00000315984.7_Missense_Mutation_p.G577R			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	577	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G577R(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAATATTGAAGGGACGGAGAA	0.438																																																2	Substitution - Missense(2)	ovary(2)	7											117	116	116					7																	87782583		1936	4134	6070	87620519	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1729G>C	7.37:g.87782583G>C	ENSP00000265727:p.Gly577Arg		87620519	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588711	0.86851	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.45	5.45	0.79879	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.72494	-0.4276	10	0.87932	D	0	.	18.0363	0.89303	0.0:0.0:1.0:0.0	.	629;577;577;577	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	R	577;577;577;577;577;544	ENSP00000381262:G577R;ENSP00000381260:G577R;ENSP00000265727:G577R;ENSP00000315900:G577R;ENSP00000381267:G577R;ENSP00000381261:G544R	ENSP00000265727:G577R	G	+	1	0	ADAM22	87620519	1.000000	0.71417	0.995000	0.50966	0.685000	0.39939	9.286000	0.95898	2.554000	0.86153	0.655000	0.94253	GGG		0.438	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		C	87782583	G	C	87782583	3	2	288	1	0	0	0	0	1	0	0	0	244	1000	35	3	1811	3	ADAM22	7	87782583	Missense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10		87782583	71356080	22	15890											
SLC37A3	84255	hgsc.bcm.edu	37	7	140058560	140058560	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr7:140058560T>A	ENST00000326232.9	-	6	604	c.401A>T	c.(400-402)gAa>gTa	p.E134V	SLC37A3_ENST00000340308.3_Missense_Mutation_p.E134V|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E134V|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000429996.2_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	134					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.E134V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ACGCAGCCATTCTGTGAGCGC	0.512																																					Esophageal Squamous(133;211 1716 4665 11387 37873)											1	Substitution - Missense(1)	ovary(1)	7											158	150	152					7																	140058560		2203	4300	6503	139705029	SO:0001583	missense	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.401A>T	7.37:g.140058560T>A	ENSP00000321498:p.Glu134Val		139705029	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.6|27.6	4.844927|4.844927	0.91197|0.91197	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232;ENST00000539816|ENST00000485861	T;T;T|.	0.57752|.	0.38;0.38;0.38|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.107964|.	0.64402|.	D|.	0.000008|.	T|T	0.71651|0.71651	0.3365|0.3365	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	B;B;P;P;B|.	0.41978|.	0.256;0.34;0.619;0.767;0.242|.	B;B;B;P;B|.	0.47915|.	0.349;0.237;0.406;0.561;0.224|.	T|T	0.70769|0.70769	-0.4782|-0.4782	10|5	0.45353|.	T|.	0.12|.	-17.4281|-17.4281	15.759|15.759	0.78063|0.78063	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	106;134;134;134;134|.	B4DKF5;F5H743;Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;.;.;SPX3_HUMAN|.	V|Y	134|59	ENSP00000343358:E134V;ENSP00000397481:E134V;ENSP00000321498:E134V|.	ENSP00000321498:E134V|.	E|N	-|-	2|1	0|0	SLC37A3|SLC37A3	139705029|139705029	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.957000|0.957000	0.61999|0.61999	7.897000|7.897000	0.87356|0.87356	2.121000|2.121000	0.65114|0.65114	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.512	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		A	140058560	T	A	140058560	3	1	288	1	0	0	0	0	1	0	0	0	14602	1783	62	5	1272	5	SLC37A3	7	140058560	Missense_Mutation	SNP	T	TCGA-25-1318-01A-01W-0490-10	52275977	140058560	19080103	23	15891											
LACTB2	51110	hgsc.bcm.edu	37	8	71553242	71553242	+	Silent	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr8:71553242T>C	ENST00000276590.4	-	5	672	c.636A>G	c.(634-636)caA>caG	p.Q212Q	LACTB2_ENST00000522447.1_Silent_p.Q212Q|LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	212						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q212Q(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAGAAATGTATTGTTGAATTT	0.284																																																1	Substitution - coding silent(1)	ovary(1)	8											40	42	41					8																	71553242		2200	4286	6486	71715796	SO:0001819	synonymous_variant	51110			AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.636A>G	8.37:g.71553242T>C			71715796	A8K2D6|Q9Y392	Silent	SNP	ENST00000276590.4	37	CCDS6208.1																																																																																				0.284	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027		C	71553242	T	C	71553242	2	2	288	1	0	0	0	0	0	0	0	1	8598	1490	52	4		4	LACTB2	8	71553242	Silent	SNP	T	TCGA-25-1318-01A-01W-0490-10		71553242	74810780	24	15892											
RRM2B	50484	hgsc.bcm.edu	37	8	103244508	103244508	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr8:103244508T>C	ENST00000251810.3	-	2	316	c.73A>G	c.(73-75)Agt>Ggt	p.S25G	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Intron|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	25					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.S25G(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	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;0.000728)		Cladribine(DB00242)	TTTATTTCACTTTCGTTGGTG	0.343								Modulation of nucleotide pools																																								1	Substitution - Missense(1)	ovary(1)	8											99	101	100					8																	103244508		2203	4300	6503	103313684	SO:0001583	missense	50484			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.73A>G	8.37:g.103244508T>C	ENSP00000251810:p.Ser25Gly		103313684	B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	CCDS34932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.13|10.13	1.264741|1.264741	0.23136|0.23136	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000522368|ENST00000251810;ENST00000522394	.|D;D	.|0.97480	.|-4.4;-1.81	5.61|5.61	3.15|3.15	0.36227|0.36227	.|Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	.|0.663319	.|0.14900	.|N	.|0.291885	D|D	0.90143|0.90143	0.6920|0.6920	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.80377|0.80377	-0.1408|-0.1408	5|10	.|0.23302	.|T	.|0.38	.|.	7.2757|7.2757	0.26283|0.26283	0.0:0.0791:0.1447:0.7762|0.0:0.0791:0.1447:0.7762	.|.	.|25	.|Q7LG56	.|RIR2B_HUMAN	R|G	81|25	.|ENSP00000251810:S25G;ENSP00000429578:S25G	.|ENSP00000251810:S25G	K|S	-|-	2|1	0|0	RRM2B|RRM2B	103313684|103313684	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.049000|0.049000	0.14656|0.14656	2.748000|2.748000	0.47483|0.47483	0.370000|0.370000	0.24538|0.24538	0.528000|0.528000	0.53228|0.53228	AAG|AGT		0.343	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			C	103244508	T	C	103244508	3	2	288	1	0	0	0	0	1	0	0	0	13686	1609	56	4	1014	4	RRM2B	8	103244508	Missense_Mutation	SNP	T	TCGA-25-1318-01A-01W-0490-10	31691266	103244508	43119514	25	15893											
IFNA8	3445	hgsc.bcm.edu	37	9	21409495	21409496	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr9:21409495_21409496delAA	ENST00000380205.1	+	1	350_351	c.320_321delAA	c.(319-321)gaafs	p.E107fs		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	107					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.E107fs*6(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTTCTAGATGAATTCTACATCG	0.51																																																1	Deletion - Frameshift(1)	ovary(1)	9																																								21399496	SO:0001589	frameshift_variant	3445				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"Interferons"	5429	protein-coding gene	gene with protein product	"interferon alpha-B''", "interferon alpha type 201"	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.320_321delAA	9.37:g.21409495_21409496delAA	ENSP00000369553:p.Glu107fs		21399495	P01565|P09236|Q5VWV7|Q5VYQ3	Frame_Shift_Del	DEL	ENST00000380205.1	37	CCDS6507.1																																																																																				0.51	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		-	21409496	AA	-	21409495	7	5	288	1	0	1	0	1	0	0	0	0	7543	246	9	0	322	0	IFNA8	9	21409495	Frame_Shift_Del	DEL	AA	TCGA-25-1318-01A-01W-0490-10		21409495	119803936	26	15894											
RUSC2	9853	hgsc.bcm.edu	37	9	35556372	35556372	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr9:35556372G>T	ENST00000455600.1	+	5	3479	c.2910G>T	c.(2908-2910)aaG>aaT	p.K970N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	970						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.K970N(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGACGGAGAAGCCTCCAGCTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	9											90	87	88					9																	35556372		2203	4300	6503	35546372	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2910G>T	9.37:g.35556372G>T	ENSP00000393922:p.Lys970Asn		35546372	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185278	0.57909	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.28454	1.61;1.61	5.4	2.43	0.29744	.	0.110414	0.56097	D	0.000022	T	0.34048	0.0884	L	0.50333	1.59	0.40809	D	0.9834	P	0.52842	0.956	P	0.52554	0.702	T	0.10314	-1.0635	10	0.59425	D	0.04	-18.8091	5.9151	0.19050	0.4484:0.0:0.5516:0.0	.	970	Q8N2Y8	RUSC2_HUMAN	N	970	ENSP00000355177:K970N;ENSP00000393922:K970N	ENSP00000355177:K970N	K	+	3	2	RUSC2	35546372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.697000	0.25556	0.569000	0.29329	0.561000	0.74099	AAG		0.527	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		T	35556372	G	T	35556372	3	4	288	1	0	0	0	0	1	0	0	0	13754	962	34	3	2924	3	RUSC2	9	35556372	Missense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10	14146877	35556372	105657059	27	15895											
TMEM180	79847	hgsc.bcm.edu	37	10	104235491	104235491	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr10:104235491T>A	ENST00000238936.4	+	10	1541	c.1304T>A	c.(1303-1305)tTc>tAc	p.F435Y	TMEM180_ENST00000366277.2_Missense_Mutation_p.F164Y	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	435						integral component of membrane (GO:0016021)		p.F435Y(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CATGACCTCTTCCAGCAGTCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	10											130	114	119					10																	104235491		2203	4300	6503	104225481	SO:0001583	missense	79847			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1304T>A	10.37:g.104235491T>A	ENSP00000238936:p.Phe435Tyr		104225481	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	t	24.4	4.526950	0.85706	.	.	ENSG00000138111	ENST00000366277;ENST00000238936;ENST00000369930	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77913	-0.2410	9	0.45353	T	0.12	.	14.3348	0.66581	0.0:0.0:0.0:1.0	.	435	Q14CX5	TM180_HUMAN	Y	164;435;164	.	ENSP00000238936:F435Y	F	+	2	0	TMEM180	104225481	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.870000	0.87175	1.855000	0.53841	0.255000	0.18592	TTC		0.617	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		A	104235491	T	A	104235491	3	1	288	1	0	0	0	0	1	0	0	0	16099	1783	62	5	1334	5	TMEM180	10	104235491	Missense_Mutation	SNP	T	TCGA-25-1318-01A-01W-0490-10		104235491	31299256	28	15896											
STX3	6809	hgsc.bcm.edu	37	11	59554600	59554600	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr11:59554600C>A	ENST00000337979.4	+	3	752	c.205C>A	c.(205-207)Cca>Aca	p.P69T	STX3_ENST00000529177.1_Missense_Mutation_p.P69T|STX3_ENST00000300150.7_Missense_Mutation_p.P38T|STX3_ENST00000437946.2_Intron|STX3_ENST00000535361.1_Missense_Mutation_p.P69T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	69					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)	p.P69T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TGCACCGATTCCAGAGCCAAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	11											131	117	121					11																	59554600		2201	4295	6496	59311176	SO:0001583	missense	6809			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.205C>A	11.37:g.59554600C>A	ENSP00000338562:p.Pro69Thr		59311176	B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812716	0.50527	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000529177;ENST00000528805	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.01	5.01	0.66863	t-SNARE (1);Syntaxin, N-terminal (2);	0.057021	0.64402	D	0.000001	T	0.21718	0.0523	N	0.17723	0.515	0.80722	D	1	P;P	0.37663	0.604;0.604	B;P	0.45660	0.342;0.489	T	0.05146	-1.0903	10	0.30854	T	0.27	-18.1355	16.9086	0.86134	0.0:1.0:0.0:0.0	.	69;69	B4DME0;Q13277	.;STX3_HUMAN	T	38;69;69;69;21	ENSP00000300150:P38T;ENSP00000338562:P69T;ENSP00000441649:P69T;ENSP00000433248:P69T;ENSP00000431386:P21T	ENSP00000300150:P38T	P	+	1	0	STX3	59311176	0.999000	0.42202	0.968000	0.41197	0.986000	0.74619	4.048000	0.57390	2.312000	0.78011	0.650000	0.86243	CCA		0.448	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		A	59554600	C	A	59554600	3	1	288	1	0	0	0	0	1	0	0	0	15348	855	30	3	215	3	STX3	11	59554600	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10		59554600	75451916	29	15897											
AMICA1	120425	hgsc.bcm.edu	37	11	118074284	118074284	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr11:118074284C>A	ENST00000356289.5	-	6	804	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	AMICA1_ENST00000526620.1_Missense_Mutation_p.D172Y|AMICA1_ENST00000292067.7_Missense_Mutation_p.D201Y|AMICA1_ENST00000533261.1_Missense_Mutation_p.D200Y	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	211	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.D201Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CGGAAAATGTCCCCCACCAGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											164	158	160					11																	118074284		2200	4296	6496	117579494	SO:0001583	missense	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.631G>T	11.37:g.118074284C>A	ENSP00000348635:p.Asp211Tyr		117579494	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457514	0.26161	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	4.58	1.07	0.20283	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.468437	0.18068	N	0.152724	T	0.79598	0.4473	M	0.87547	2.89	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.997;0.875;1.0;1.0;0.999	T	0.66364	-0.5942	10	0.87932	D	0	-8.9134	5.4203	0.16396	0.0:0.5744:0.0:0.4256	.	211;172;211;200;201	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	Y	211;201;200;172;172	ENSP00000348635:D211Y;ENSP00000292067:D201Y;ENSP00000436117:D200Y;ENSP00000431218:D172Y	ENSP00000292067:D201Y	D	-	1	0	AMICA1	117579494	0.036000	0.19791	0.002000	0.10522	0.026000	0.11368	0.444000	0.21661	0.457000	0.26962	0.491000	0.48974	GAC		0.507	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		A	118074284	C	A	118074284	3	1	288	1	0	0	0	0	1	0	0	0	574	855	30	3	573	3	AMICA1	11	118074284	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	58519684	118074284	16932232	30	15898											
ARHGEF12	23365	hgsc.bcm.edu	37	11	120350701	120350701	+	Silent	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr11:120350701C>T	ENST00000397843.2	+	38	3965	c.3799C>T	c.(3799-3801)Cta>Tta	p.L1267L	ARHGEF12_ENST00000532993.1_Silent_p.L1164L|ARHGEF12_ENST00000356641.3_Silent_p.L1248L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1267					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1267L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGTGCAACAGCTAGGTTTGAC	0.463			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - coding silent(1)	ovary(1)	11											132	121	124					11																	120350701		1867	4099	5966	119855911	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3799C>T	11.37:g.120350701C>T			119855911	O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																				0.463	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		T	120350701	C	T	120350701	2	4	288	1	0	0	0	0	0	0	0	1	897	796	28	2		2	ARHGEF12	11	120350701	Silent	SNP	C	TCGA-25-1318-01A-01W-0490-10	2276417	120350701	14655815	31	15899											
CASC1	55259	hgsc.bcm.edu	37	12	25297569	25297569	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr12:25297569C>A	ENST00000320267.9	-	8	795	c.714G>T	c.(712-714)gaG>gaT	p.E238D	CASC1_ENST00000354189.5_Missense_Mutation_p.E302D|CASC1_ENST00000545133.1_Missense_Mutation_p.E179D|CASC1_ENST00000395990.2_Missense_Mutation_p.E198D|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.E126D|CASC1_ENST00000395987.3_Missense_Mutation_p.E244D	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	238								p.E244D(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCCTTGGAATCTCAAATCCAA	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											126	125	125					12																	25297569		2203	4300	6503	25188836	SO:0001583	missense	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.714G>T	12.37:g.25297569C>A	ENSP00000313141:p.Glu238Asp		25188836	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107613	0.37145	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.25	-1.92	0.07618	Casc1 domain (1);	0.527225	0.19474	N	0.113370	T	0.19604	0.0471	L	0.47716	1.5	0.35525	D	0.801779	B;B;B;B;B	0.31318	0.141;0.141;0.319;0.103;0.084	B;B;B;B;B	0.34652	0.067;0.067;0.187;0.067;0.04	T	0.13229	-1.0517	10	0.20046	T	0.44	-9.1848	3.0502	0.06167	0.3491:0.3068:0.0:0.3441	.	126;179;302;238;244	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	D	302;244;238;198;126;244;179	ENSP00000346126:E302D;ENSP00000379310:E244D;ENSP00000313141:E238D;ENSP00000379313:E198D;ENSP00000444715:E126D;ENSP00000437373:E179D	ENSP00000313141:E238D	E	-	3	2	CASC1	25188836	0.893000	0.30496	0.998000	0.56505	0.994000	0.84299	-0.326000	0.07965	0.015000	0.14971	-0.323000	0.08544	GAG		0.383	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		A	25297569	C	A	25297569	3	1	288	1	0	0	0	0	1	0	0	0	2660	912	32	3	1468	3	CASC1	12	25297569	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10		25297569	108554326	32	15900											
DENND5B	160518	hgsc.bcm.edu	37	12	31542301	31542301	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr12:31542301C>A	ENST00000389082.5	-	20	3862	c.3598G>T	c.(3598-3600)Ggg>Tgg	p.G1200W	DENND5B_ENST00000536562.1_Missense_Mutation_p.G1235W|DENND5B_ENST00000306833.6_Missense_Mutation_p.G1235W	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1200	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G1200W(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCATCCTTCCCAATGTTCCTG	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											103	95	97					12																	31542301		1868	4113	5981	31433568	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3598G>T	12.37:g.31542301C>A	ENSP00000373734:p.Gly1200Trp		31433568	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274828	0.80580	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.13089	2.62;2.62;2.62	4.34	4.34	0.51931	RUN (2);	0.070231	0.56097	D	0.000025	T	0.41073	0.1143	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47497	-0.9113	10	0.87932	D	0	-28.6646	17.0421	0.86492	0.0:1.0:0.0:0.0	.	1200;1235	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	W	1200;1235;1235	ENSP00000373734:G1200W;ENSP00000306482:G1235W;ENSP00000444889:G1235W	ENSP00000306482:G1235W	G	-	1	0	DENND5B	31433568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	2.239000	0.73571	0.585000	0.79938	GGG		0.383	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		A	31542301	C	A	31542301	3	1	288	1	0	0	0	0	1	0	0	0	4437	594	21	3	234	3	DENND5B	12	31542301	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	6244732	31542301	102309594	33	15901											
AMIGO2	91523	hgsc.bcm.edu	37	12	47472366	47472366	+	5'Flank	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr12:47472366C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Silent_p.L140L|AMIGO2_ENST00000321382.3_Silent_p.L140L|AMIGO2_ENST00000266581.4_Silent_p.L140L|AMIGO2_ENST00000429635.1_Silent_p.L140L			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.L140L(1)									CCAGAACCTTCAACTCTTGGA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	12											126	126	126					12																	47472366		2203	4300	6503	45758633	SO:0001631	upstream_gene_variant	347902			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472366C>T	Exception_encountered		45758633	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1																																																																																				0.433	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		T	47472366	C	T	47472366	1	4	288	0	1	0	0	0	0	0	0	0	576	825	29	2		2	AMIGO2	12	47472366	5'Flank	SNP	C	TCGA-25-1318-01A-01W-0490-10	15930065	47472366	86379529	34	15902											
IRAK3	11213	hgsc.bcm.edu	37	12	66638989	66638989	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr12:66638989T>G	ENST00000261233.4	+	11	1682	c.1261T>G	c.(1261-1263)Ttg>Gtg	p.L421V	IRAK3_ENST00000457197.2_Missense_Mutation_p.L360V	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.L421V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCTCTTCTGTTTGGCAGGCCG	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											79	81	80					12																	66638989		2203	4300	6503	64925256	SO:0001583	missense	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1261T>G	12.37:g.66638989T>G	ENSP00000261233:p.Leu421Val		64925256		Missense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358208	0.41801	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.71698	-0.59;-0.59	5.89	-0.35	0.12606	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000006	T	0.72542	0.3473	L	0.41573	1.285	0.33194	D	0.551232	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.73594	-0.3933	9	.	.	.	-12.0483	8.8574	0.35236	0.0:0.5024:0.0:0.4976	.	360;421	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	V	421;360	ENSP00000261233:L421V;ENSP00000409852:L360V	.	L	+	1	2	IRAK3	64925256	0.000000	0.05858	0.995000	0.50966	0.031000	0.12232	-0.928000	0.03980	-0.065000	0.13021	-0.379000	0.06801	TTG		0.463	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			G	66638989	T	G	66638989	3	3	288	1	0	0	0	0	1	0	0	0	7824	1838	64	5	1303	5	IRAK3	12	66638989	Missense_Mutation	SNP	T	TCGA-25-1318-01A-01W-0490-10	19166623	66638989	67212906	35	15903											
SACS	26278	hgsc.bcm.edu	37	13	23910712	23910712	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr13:23910712G>C	ENST00000382292.3	-	9	7576	c.7303C>G	c.(7303-7305)Ctc>Gtc	p.L2435V	SACS_ENST00000402364.1_Missense_Mutation_p.L1685V|SACS_ENST00000382298.3_Missense_Mutation_p.L2435V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2435					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.L2288V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTCTAATGAGACTCCATATT	0.333																																																1	Substitution - Missense(1)	ovary(1)	13											64	66	66					13																	23910712		2202	4299	6501	22808712	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7303C>G	13.37:g.23910712G>C	ENSP00000371729:p.Leu2435Val		22808712	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104408	0.37145	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89123	-2.33;-2.47;-2.33	5.6	4.74	0.60224	.	0.067318	0.64402	N	0.000015	D	0.91815	0.7410	M	0.63428	1.95	0.37396	D	0.912641	D	0.63880	0.993	P	0.55923	0.787	D	0.93527	0.6866	10	0.54805	T	0.06	.	16.4828	0.84162	0.0:0.1312:0.8688:0.0	.	2435	Q9NZJ4	SACS_HUMAN	V	2435;1685;2435	ENSP00000371729:L2435V;ENSP00000385844:L1685V;ENSP00000371735:L2435V	ENSP00000371729:L2435V	L	-	1	0	SACS	22808712	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.623000	0.54224	1.351000	0.45789	0.561000	0.74099	CTC		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23910712	G	C	23910712	3	2	288	1	0	0	0	0	1	0	0	0	13807	942	33	3	6440	3	SACS	13	23910712	Missense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10		23910712	91259166	36	15904											
GRK1	6011	hgsc.bcm.edu	37	13	114325855	114325855	+	Missense_Mutation	SNP	C	C	T	rs117878269	byFrequency	TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr13:114325855C>T	ENST00000335678.6	+	3	1101	c.869C>T	c.(868-870)cCg>cTg	p.P290L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.A14V(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCTGGCTTCCCGGAGCCGCGC	0.602													c|||	11	0.00219649	0	0	5008	,	,		20033	0.0099		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	13							LEU/PRO	0,4026		0,0,2013	48	53	52		869	-3.5	0	13	dbSNP_132	52	3,8349		0,3,4173	yes	missense	GRK1	NM_002929.2	98	0,3,6186	TT,TC,CC		0.0359,0.0,0.0242	benign	290/564	114325855	3,12375	2013	4176	6189	113373856	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.869C>T	13.37:g.114325855C>T	ENSP00000334876:p.Pro290Leu		113373856	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37		7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	c	5.965	0.361949	0.11296	0.0	3.59E-4	ENSG00000185974	ENST00000335678	T	0.27104	1.69	4.43	-3.49	0.04724	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	2.005820	0.02051	N	0.050042	T	0.12347	0.0300	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21586	-1.0241	9	0.72032	D	0.01	-1.7486	2.76	0.05303	0.5684:0.1554:0.0927:0.1836	.	290	Q15835	RK_HUMAN	L	290	ENSP00000334876:P290L	ENSP00000334876:P290L	P	+	2	0	GRK1	113373856	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.760000	0.04756	-1.023000	0.03342	-0.360000	0.07572	CCG		0.602	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		T	114325855	C	T	114325855	3	4	288	1	0	0	0	0	1	0	0	0	6790	652	23	1	879	1	GRK1	13	114325855	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	90415143	114325855	844023	37	15905											
SIAH1	6477	hgsc.bcm.edu	37	16	48396301	48396301	+	Silent	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr16:48396301G>C	ENST00000380006.2	-	1	1492	c.39C>G	c.(37-39)acC>acG	p.T13T	SIAH1_ENST00000394725.2_Silent_p.T13T|SIAH1_ENST00000356721.3_Silent_p.T44T|SIAH1_ENST00000573005.1_5'Flank			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	13					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T13T(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GACACTTCGAGGTACCGGTAG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	16											80	74	76					16																	48396301		2200	4300	6500	46953802	SO:0001819	synonymous_variant	6477			U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"seven in absentia homolog 1 (Drosophila)"			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.39C>G	16.37:g.48396301G>C			46953802	A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	37	CCDS10735.1																																																																																				0.448	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			C	48396301	G	C	48396301	2	2	288	1	0	0	0	0	0	0	0	1	14302	987	35	3		3	SIAH1	16	48396301	Silent	SNP	G	TCGA-25-1318-01A-01W-0490-10		48396301	41958452	38	15906											
FUK	197258	hgsc.bcm.edu	37	16	70497548	70497548	+	Silent	SNP	G	G	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr16:70497548G>T	ENST00000288078.6	+	3	337	c.105G>T	c.(103-105)cgG>cgT	p.R35R	FUK_ENST00000428974.2_Silent_p.R35R|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.R35R	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	35						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.R35R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGCAGAAGCGGGAGCAGATCC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	16											60	67	65					16																	70497548		2032	4180	6212	69055049	SO:0001819	synonymous_variant	197258				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.105G>T	16.37:g.70497548G>T			69055049	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	CCDS10891.2																																																																																				0.637	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		T	70497548	G	T	70497548	2	4	288	1	0	0	0	0	0	0	0	1	6096	1219	43	3		3	FUK	16	70497548	Silent	SNP	G	TCGA-25-1318-01A-01W-0490-10	22101247	70497548	19857205	39	15907											
HYDIN	54768	hgsc.bcm.edu	37	16	71061565	71061565	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr16:71061565C>T	ENST00000393567.2	-	20	3132	c.2982G>A	c.(2980-2982)atG>atA	p.M994I	HYDIN_ENST00000448089.2_Missense_Mutation_p.M994I|HYDIN_ENST00000448691.1_Missense_Mutation_p.M994I|HYDIN_ENST00000321489.5_Missense_Mutation_p.M994I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	994					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.M994I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTACAGCTCCATGCTGGCGG	0.542																																																2	Substitution - Missense(2)	ovary(2)	16											11	11	11					16																	71061565		2118	4262	6380	69619066	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2982G>A	16.37:g.71061565C>T	ENSP00000377197:p.Met994Ile		69619066	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.248975	0.59103	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489	T;T;T;T	0.41065	1.01;3.25;3.25;3.25	4.85	4.85	0.62838	.	0.000000	0.39615	U	0.001315	T	0.47060	0.1425	L	0.46947	1.48	0.80722	D	1	P;P	0.41450	0.728;0.75	P;P	0.48334	0.491;0.574	T	0.27872	-1.0061	10	0.22706	T	0.39	.	17.6084	0.88045	0.0:1.0:0.0:0.0	.	994;994	Q4G0P3-5;F8WD23	.;.	I	994	ENSP00000377197:M994I;ENSP00000398544:M994I;ENSP00000394826:M994I;ENSP00000314736:M994I	ENSP00000313052:M994I	M	-	3	0	HYDIN	69619066	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.609000	0.36858	2.282000	0.76494	0.499000	0.49734	ATG		0.542	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71061565	C	T	71061565	3	4	288	1	0	0	0	0	1	0	0	0	7467	594	21	2	12660	2	HYDIN	16	71061565	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	564017	71061565	19293188	40	15908											
SMG6	23293	hgsc.bcm.edu	37	17	2203200	2203200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:2203200G>A	ENST00000263073.6	-	2	897	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	SMG6_ENST00000544865.1_Nonsense_Mutation_p.Q252*	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	283	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.Q283*(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCTATCCTGTCGGCGGCGG	0.572																																					Melanoma(59;28 1088 11621 25887 46638 50814)											2	Substitution - Nonsense(2)	ovary(2)	17											71	63	65					17																	2203200		2203	4300	6503	2149950	SO:0001587	stop_gained	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.847C>T	17.37:g.2203200G>A	ENSP00000263073:p.Gln283*		2149950	B7Z874|O94837|Q86VH6|Q9UF60	Nonsense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	41	8.992726	0.99029	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	.	.	.	5.35	5.35	0.76521	.	0.552442	0.18250	N	0.146998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-6.836	19.0567	0.93069	0.0:0.0:1.0:0.0	.	.	.	.	X	283;252	.	ENSP00000263073:Q283X	Q	-	1	0	SMG6	2149950	0.984000	0.35163	0.984000	0.44739	0.929000	0.56500	2.028000	0.41088	2.490000	0.84030	0.655000	0.94253	CAG		0.572	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			A	2203200	G	A	2203200	4	1	288	1	0	0	0	0	0	1	0	0	14800	1386	48	2	3484	2	SMG6	17	2203200	Nonsense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10		2203200	78992010	41	15909											
ENO3	2027	hgsc.bcm.edu	37	17	4860152	4860152	+	Silent	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:4860152G>A	ENST00000323997.6	+	11	1335	c.1203G>A	c.(1201-1203)tcG>tcA	p.S401S	ENO3_ENST00000519584.1_Silent_p.S358S|ENO3_ENST00000518175.1_Silent_p.S401S	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	401					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.S401S(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CCTGCCGCTCGGAGCGTCTGG	0.592											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	17											145	158	154					17																	4860152		2203	4300	6503	4800876	SO:0001819	synonymous_variant	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1203G>A	17.37:g.4860152G>A		622	4800876	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	ENST00000323997.6	37	CCDS11062.1																																																																																				0.592	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			A	4860152	G	A	4860152	2	1	288	1	0	0	0	0	0	0	0	1	5123	1103	39	1		1	ENO3	17	4860152	Silent	SNP	G	TCGA-25-1318-01A-01W-0490-10	2656952	4860152	76335058	42	15910											
TP53	7157	hgsc.bcm.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	288	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	2718254	7578406	73616804	43	15911											
DNAH9	1770	hgsc.bcm.edu	37	17	11572453	11572453	+	Missense_Mutation	SNP	C	C	T	rs556779874		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:11572453C>T	ENST00000262442.4	+	16	2872	c.2804C>T	c.(2803-2805)cCg>cTg	p.P935L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P935L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	935	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P935L(2)|p.P935R(1)|p.P935Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTTTCTATCCGTCTCTGGAG	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		19701	0		0	False		,,,				2504	0															4	Substitution - Missense(4)	ovary(1)|NS(1)|lung(1)|kidney(1)	17											148	145	146					17																	11572453		2203	4300	6503	11513178	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2804C>T	17.37:g.11572453C>T	ENSP00000262442:p.Pro935Leu		11513178	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519123	0.64634	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.37058	1.28;1.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.89414	3.03	0.80722	D	1	D	0.64830	0.994	P	0.54026	0.74	T	0.69595	-0.5103	10	0.59425	D	0.04	.	19.1973	0.93695	0.0:1.0:0.0:0.0	.	935	Q9NYC9	DYH9_HUMAN	L	935	ENSP00000262442:P935L;ENSP00000414874:P935L	ENSP00000262442:P935L	P	+	2	0	DNAH9	11513178	1.000000	0.71417	0.218000	0.23776	0.159000	0.22180	7.475000	0.81041	2.530000	0.85305	0.655000	0.94253	CCG		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11572453	C	T	11572453	3	4	288	1	0	0	0	0	1	0	0	0	4608	652	23	1	2866	1	DNAH9	17	11572453	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	3994047	11572453	69622757	44	15912											
SLC5A10	125206	hgsc.bcm.edu	37	17	18916779	18916779	+	Missense_Mutation	SNP	G	G	A	rs147798286		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:18916779G>A	ENST00000395645.3	+	10	1057	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	SLC5A10_ENST00000395642.1_Missense_Mutation_p.G280S|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G363S|SLC5A10_ENST00000317977.6_Missense_Mutation_p.G280S|SLC5A10_ENST00000395643.2_Missense_Mutation_p.G320S|SLC5A10_ENST00000417251.2_Intron	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	347					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G363S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGCCGAGGTCGGCTGCTCCAA	0.632													G|||	1	0.000199681	0	0	5008	,	,		16723	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	17						G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	56	50	52		1039,1087	4	1	17	dbSNP_134	52	0,8600		0,0,4300	yes	missense,missense	SLC5A10	NM_001042450.1,NM_152351.3	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	347/597,363/613	18916779	1,13005	2203	4300	6503	18857504	SO:0001583	missense	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1039G>A	17.37:g.18916779G>A	ENSP00000379007:p.Gly347Ser		18857504	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785630	0.90282	2.27E-4	0.0	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000395645;ENST00000395643	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	4.04	4.04	0.47022	.	0.105548	0.64402	D	0.000004	D	0.91479	0.7310	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.64830	0.99;0.992;0.99;0.994	P;P;P;P	0.53313	0.602;0.723;0.713;0.713	D	0.92213	0.5778	10	0.51188	T	0.08	.	16.1683	0.81786	0.0:0.0:1.0:0.0	.	320;347;363;280	A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;SC5AA_HUMAN;.;.	S	280;363;280;347;320	ENSP00000324346:G280S;ENSP00000379008:G363S;ENSP00000379004:G280S;ENSP00000379007:G347S;ENSP00000379005:G320S	ENSP00000324346:G280S	G	+	1	0	SLC5A10	18857504	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.566000	0.98157	1.978000	0.57642	0.313000	0.20887	GGC		0.632	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		A	18916779	G	A	18916779	3	1	288	1	0	0	0	0	1	0	0	0	14665	1116	39	1	1125	1	SLC5A10	17	18916779	Missense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10	7344326	18916779	62278431	45	15913											
NOS2	4843	hgsc.bcm.edu	37	17	26101406	26101406	+	Nonsense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:26101406G>C	ENST00000313735.6	-	12	1586	c.1353C>G	c.(1351-1353)taC>taG	p.Y451*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	451					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.Y451*(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CACGGGACCGGTATTCATTCT	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	17											96	92	94					17																	26101406		2203	4300	6503	23125533	SO:0001587	stop_gained	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1353C>G	17.37:g.26101406G>C	ENSP00000327251:p.Tyr451*		23125533	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Nonsense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	39	7.373933	0.98245	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	.	.	.	5.67	4.67	0.58626	.	0.255358	0.34156	N	0.004219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8298	0.78741	0.0:0.1352:0.8648:0.0	.	.	.	.	X	451;412;451	.	ENSP00000305638:Y451X	Y	-	3	2	NOS2	23125533	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	3.086000	0.50159	2.667000	0.90743	0.561000	0.74099	TAC		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		C	26101406	G	C	26101406	4	2	288	1	0	0	0	0	0	1	0	0	10543	1256	44	3	2172	3	NOS2	17	26101406	Nonsense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10	7184627	26101406	55093804	46	15914											
PROCA1	6830	hgsc.bcm.edu	37	17	27030880	27030880	+	IGR	SNP	A	A	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:27030880A>C	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.L236W|PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000581289.1_3'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.L238W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L236W(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTTCTTAGTCAACTGGCCTTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	17											99	104	102					17																	27030880		2203	4300	6503	24055007	SO:0001628	intergenic_variant	147011			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030880A>C			24055007	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913275	0.52439	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.05025	3.51;3.51	4.74	4.74	0.60224	.	0.402757	0.20110	N	0.099021	T	0.14227	0.0344	L	0.34521	1.04	0.09310	N	0.99999	D;D;D	0.76494	0.996;0.999;0.999	P;D;D	0.71414	0.908;0.973;0.973	T	0.03433	-1.1037	10	0.87932	D	0	-2.3458	10.8053	0.46514	1.0:0.0:0.0:0.0	.	264;238;236	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	W	236;238;264	ENSP00000301039:L236W;ENSP00000411400:L238W	ENSP00000301039:L236W	L	-	2	0	PROCA1	24055007	0.287000	0.24315	0.378000	0.26068	0.745000	0.42441	4.909000	0.63314	2.101000	0.63845	0.533000	0.62120	TTG		0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		C	27030880	A	C	27030880	1	2	288	0	1	0	0	0	0	0	0	0	12549	131	5	5		5	PROCA1	17	27030880	IGR	SNP	A	TCGA-25-1318-01A-01W-0490-10	929474	27030880	54164330	47	15915											
CACNA1G	8913	hgsc.bcm.edu	37	17	48678184	48678184	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:48678184C>G	ENST00000359106.5	+	18	3788	c.3788C>G	c.(3787-3789)tCc>tGc	p.S1263C	CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1240C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1240C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1240C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1263C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1263C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S1263C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1240C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1240C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1263C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1240C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S1240C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1240C	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1263					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.S1263C(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTCCTCAGTCCAGGTAAGTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											44	50	48					17																	48678184		2089	4219	6308	46033183	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3788C>G	17.37:g.48678184C>G	ENSP00000352011:p.Ser1263Cys		46033183	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.062970	0.76187	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97642	-4.17;-4.17;-4.34;-4.1;-4.16;-4.16;-4.19;-4.26;-4.23;-4.24;-4.25;-4.12;-4.13;-4.2;-4.15;-4.1;-4.19;-4.14;-4.12;-4.19;-4.16;-4.12;-4.18;-4.13;-4.18;-4.18;-4.47	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.989;0.999;1.0;0.999;1.0;0.999;0.998;1.0;0.999;0.999;1.0;0.999;0.998;1.0;0.999;0.999;0.988;0.998;1.0;0.999;0.999;0.998;1.0;0.999;0.982;0.993	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.985;0.96;0.998;0.995;0.998;0.962;0.994;0.998;0.994;0.971;0.998;0.973;0.94;0.998;0.986;0.972;0.934;0.96;0.998;0.949;0.994;0.94;0.998;0.96;0.964;0.97	D	0.97847	1.0272	10	0.49607	T	0.09	.	13.7092	0.62659	0.1541:0.8459:0.0:0.0	.	1240;1263;1263;1263;1263;1263;1263;1263;1263;1263;1263;1240;1263;1263;1263;1263;1263;1240;1263;1240;1240;1240;1240;1263;1240;1263	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	C	1240;1240;1263;1240;1240;1240;1263;1263;1240;1263;1263;1263;1263;1263;1263;1240;1263;1263;1263;1263;1240;1263;1263;1263;1263;1263;78	ENSP00000353990:S1240C;ENSP00000339302:S1240C;ENSP00000392390:S1263C;ENSP00000347078:S1240C;ENSP00000409759:S1240C;ENSP00000425522:S1240C;ENSP00000426261:S1263C;ENSP00000425451:S1263C;ENSP00000422407:S1240C;ENSP00000426814:S1263C;ENSP00000427238:S1263C;ENSP00000423112:S1263C;ENSP00000420918:S1263C;ENSP00000426172:S1263C;ENSP00000423045:S1263C;ENSP00000427173:S1240C;ENSP00000426098:S1263C;ENSP00000425698:S1263C;ENSP00000426232:S1263C;ENSP00000423317:S1263C;ENSP00000350979:S1240C;ENSP00000352011:S1263C;ENSP00000414388:S1263C;ENSP00000423155:S1263C;ENSP00000422268:S1263C;ENSP00000421518:S1263C;ENSP00000427697:S78C	ENSP00000339302:S1240C	S	+	2	0	CACNA1G	46033183	0.998000	0.40836	0.992000	0.48379	0.889000	0.51656	4.018000	0.57174	2.453000	0.82957	0.655000	0.94253	TCC		0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		G	48678184	C	G	48678184	3	3	288	1	0	0	0	0	1	0	0	0	2544	855	30	3	3858	3	CACNA1G	17	48678184	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	21647304	48678184	32517026	48	15916											
LAMA1	284217	hgsc.bcm.edu	37	18	6971901	6971901	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr18:6971901C>G	ENST00000389658.3	-	48	6947	c.6854G>C	c.(6853-6855)tGg>tCg	p.W2285S	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2285	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.W2285S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AATATAGTTCCATAGGCCTAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	18											137	116	123					18																	6971901		2203	4300	6503	6961901	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6854G>C	18.37:g.6971901C>G	ENSP00000374309:p.Trp2285Ser		6961901		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698001	0.68386	.	.	ENSG00000101680	ENST00000389658	T	0.62364	0.03	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81714	-0.0807	10	0.87932	D	0	.	19.7972	0.96491	0.0:1.0:0.0:0.0	.	2285	P25391	LAMA1_HUMAN	S	2285	ENSP00000374309:W2285S	ENSP00000374309:W2285S	W	-	2	0	LAMA1	6961901	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	7.406000	0.80017	2.756000	0.94617	0.643000	0.83706	TGG		0.433	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	6971901	C	G	6971901	3	3	288	1	0	0	0	0	1	0	0	0	8605	595	21	3	2437	3	LAMA1	18	6971901	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10		6971901	71105347	49	15917											
MUC16	94025	hgsc.bcm.edu	37	19	9086715	9086716	+	Frame_Shift_Ins	INS	-	-	ACTCATT			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr19:9086715_9086716insACTCATT	ENST00000397910.4	-	1	5302_5303	c.5099_5100insAATGAGT	c.(5098-5100)gttfs	p.-1700fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S1701fs*8(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACAGAGGAAACTCTTCCTAA	0.48																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								8947716	SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5099_5100insAATGAGT	19.37:g.9086715_9086716insACTCATT	ENSP00000381008:p.Val1700fs		8947715	Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	CCDS54212.1																																																																																				0.48	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		ACTCATT	9086716	-	ACTCATT	9086715	7	5	288	1	0	1	1	0	0	0	0	0	9973	1	1	0	38759	0	MUC16	19	9086715	Frame_Shift_Ins	INS	-	TCGA-25-1318-01A-01W-0490-10		9086715	50042268	50	15918											
CD79A	973	hgsc.bcm.edu	37	19	42383136	42383136	+	Silent	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr19:42383136C>T	ENST00000221972.3	+	2	341	c.156C>T	c.(154-156)ttC>ttT	p.F52F	CD79A_ENST00000444740.2_Silent_p.F52F	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	52	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.F52F(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						ACGCCCACTTCCAATGCCCGC	0.642			"O, S"		DLBCL																																		Dom	yes		19	19q13.2	973	"CD79a molecule, immunoglobulin-associated alpha"		L	1	Substitution - coding silent(1)	ovary(1)	19											87	70	76					19																	42383136		2203	4300	6503	47074976	SO:0001819	synonymous_variant	973			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.156C>T	19.37:g.42383136C>T			47074976	A0N775|Q53FB8	Silent	SNP	ENST00000221972.3	37	CCDS12589.1																																																																																				0.642	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			T	42383136	C	T	42383136	2	4	288	1	0	0	0	0	0	0	0	1	3036	854	30	2		2	CD79A	19	42383136	Silent	SNP	C	TCGA-25-1318-01A-01W-0490-10	33296421	42383136	16745847	51	15919											
KIR3DL1	3811	hgsc.bcm.edu	37	19	55331210	55331210	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr19:55331210T>A	ENST00000391728.4	+	4	431	c.398T>A	c.(397-399)cTg>cAg	p.L133Q	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L38Q|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L133Q|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L133Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.L133Q|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L133Q	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	133					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.L133Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGTCCCCTGGTGAAATCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	19											36	35	35					19																	55331210		2171	4108	6279	60023022	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.398T>A	19.37:g.55331210T>A	ENSP00000375608:p.Leu133Gln		60023022	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	11.15	1.554026	0.27739	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03212	4.01;4.01;4.01;4.01;4.01;4.01	1.33	1.33	0.21861	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.036590	0.03406	U	0.204071	T	0.23492	0.0568	M	0.93594	3.435	0.09310	N	1	D;D;D;D	0.71674	0.995;0.995;0.992;0.998	P;D;P;D	0.69479	0.902;0.964;0.885;0.956	T	0.03443	-1.1036	10	0.87932	D	0	.	4.8237	0.13405	0.0:0.0:0.0:1.0	.	133;38;133;133	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	Q	133;133;133;111;133;133;38	ENSP00000384528:L133Q;ENSP00000443350:L133Q;ENSP00000442355:L133Q;ENSP00000375608:L133Q;ENSP00000326868:L133Q;ENSP00000350901:L38Q	ENSP00000326868:L133Q	L	+	2	0	KIR3DL1	60023022	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.254000	0.18314	0.874000	0.35823	0.155000	0.16302	CTG		0.488	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		A	55331210	T	A	55331210	3	1	288	1	0	0	0	0	1	0	0	0	8320	1580	55	5	412	5	KIR3DL1	19	55331210	Missense_Mutation	SNP	T	TCGA-25-1318-01A-01W-0490-10	12948074	55331210	3797773	52	15920											
PEG3	5178	hgsc.bcm.edu	37	19	57328940	57328940	+	Silent	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr19:57328940T>C	ENST00000326441.9	-	10	1233	c.870A>G	c.(868-870)aaA>aaG	p.K290K	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.K166K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.K290K|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.K164K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	290					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K290K(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGGCATAGTTTTTAGACCTG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	19											43	49	47					19																	57328940		2200	4298	6498	62020752	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.870A>G	19.37:g.57328940T>C			62020752	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57328940	T	C	57328940	2	2	288	1	0	0	0	0	0	0	0	1	11720	1838	64	4		4	PEG3	19	57328940	Silent	SNP	T	TCGA-25-1318-01A-01W-0490-10	1997730	57328940	1800043	53	15921											
BEND2	139105	hgsc.bcm.edu	37	X	18213448	18213448	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chrX:18213448G>C	ENST00000380033.4	-	7	1280	c.1148C>G	c.(1147-1149)gCc>gGc	p.A383G	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	383								p.A383G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATATGAAGAGGCTGGATATGG	0.388																																																1	Substitution - Missense(1)	ovary(1)	X											157	136	143					X																	18213448		2203	4300	6503	18123369	SO:0001583	missense	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1148C>G	X.37:g.18213448G>C	ENSP00000369372:p.Ala383Gly		18123369	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122706	0.20877	.	.	ENSG00000177324	ENST00000380033	T	0.26518	1.73	3.21	-4.31	0.03698	.	.	.	.	.	T	0.13415	0.0325	L	0.40543	1.245	0.09310	N	1	B	0.34015	0.435	B	0.29353	0.101	T	0.20174	-1.0283	9	0.22109	T	0.4	.	2.9725	0.05927	0.1345:0.1158:0.5276:0.2221	.	383	Q8NDZ0	BEND2_HUMAN	G	383	ENSP00000369372:A383G	ENSP00000369372:A383G	A	-	2	0	BEND2	18123369	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.325000	0.07976	-1.198000	0.02669	-0.255000	0.11280	GCC		0.388	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		C	18213448	G	C	18213448	3	2	288	1	0	0	0	0	1	0	0	0	1398	1203	42	3	1309	3	BEND2	23	18213448	Missense_Mutation	SNP	G	TCGA-25-1318-01A-01W-0490-10		18213448	137057112	54	15922											
SMC1A	8243	hgsc.bcm.edu	37	X	53436360	53436360	+	Silent	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chrX:53436360G>C	ENST00000322213.4	-	8	1456	c.1329C>G	c.(1327-1329)acC>acG	p.T443T	SMC1A_ENST00000375340.6_Silent_p.T209T	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	443					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.T443T(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ACTTGCTAGTGGTGATGTATT	0.493																																																1	Substitution - coding silent(1)	ovary(1)	X											248	177	201					X																	53436360		2203	4300	6503	53453085	SO:0001819	synonymous_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1329C>G	X.37:g.53436360G>C			53453085	O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	CCDS14352.1																																																																																				0.493	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		C	53436360	G	C	53436360	2	2	288	1	0	0	0	0	0	0	0	1	14784	1335	47	3		3	SMC1A	23	53436360	Silent	SNP	G	TCGA-25-1318-01A-01W-0490-10	35222912	53436360	101834200	55	15923											
PASD1	139135	hgsc.bcm.edu	37	X	150842507	150842507	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chrX:150842507C>T	ENST00000370357.4	+	15	2269	c.2024C>T	c.(2023-2025)aCt>aTt	p.T675I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	675						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.T675I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCATAACTTCAGACTCA	0.502																																																1	Substitution - Missense(1)	ovary(1)	X											127	113	118					X																	150842507		2203	4300	6503	150593163	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2024C>T	X.37:g.150842507C>T	ENSP00000359382:p.Thr675Ile		150593163	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882086	0.33255	.	.	ENSG00000166049	ENST00000370357	T	0.33216	1.42	3.37	-5.77	0.02369	.	.	.	.	.	T	0.12518	0.0304	N	0.14661	0.345	0.09310	N	1	B	0.34241	0.444	B	0.29077	0.098	T	0.14420	-1.0473	9	0.72032	D	0.01	-0.0815	3.3403	0.07116	0.2213:0.4825:0.1737:0.1225	.	675	Q8IV76	PASD1_HUMAN	I	675	ENSP00000359382:T675I	ENSP00000359382:T675I	T	+	2	0	PASD1	150593163	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.225000	0.02956	-1.865000	0.01147	-1.548000	0.00902	ACT		0.502	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		T	150842507	C	T	150842507	3	4	288	1	0	0	0	0	1	0	0	0	11471	565	20	2	2078	2	PASD1	23	150842507	Missense_Mutation	SNP	C	TCGA-25-1318-01A-01W-0490-10	97406147	150842507	4428053	56	15924											
TMEM69	51249	broad.mit.edu	37	1	46159420	46159420	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr1:46159420C>T	ENST00000372025.4	+	3	1744	c.587C>T	c.(586-588)gCa>gTa	p.A196V	RP11-767N6.7_ENST00000430643.1_RNA|TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	196						integral component of membrane (GO:0016021)		p.A196V(1)		kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					ATGGGAGTAGCATTCCACCTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											115	104	107					1																	46159420		1857	4102	5959	45932007	SO:0001583	missense	51249			BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 154"	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.587C>T	1.37:g.46159420C>T	ENSP00000361095:p.Ala196Val		45932007	Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	37	CCDS41325.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299308	0.60195	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.62	5.62	0.85841	.	0.288147	0.39146	N	0.001454	T	0.75273	0.3827	M	0.75777	2.31	0.58432	D	0.999997	D	0.60160	0.987	P	0.58620	0.842	T	0.70063	-0.4975	9	0.16420	T	0.52	-3.544	19.6559	0.95842	0.0:1.0:0.0:0.0	.	196	Q5SWH9	TMM69_HUMAN	V	196	.	ENSP00000361095:A196V	A	+	2	0	TMEM69	45932007	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	5.720000	0.68470	2.657000	0.90304	0.491000	0.48974	GCA		0.393	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		T	46159420	C	T	46159420	3	4	289	1	0	0	0	0	1	0	0	0	16198	710	25	2	593	2	TMEM69	1	46159420	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08		46159420	203091201	1	15925											
NEXN	91624	broad.mit.edu	37	1	78383899	78383899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr1:78383899G>T	ENST00000334785.7	+	5	572	c.388G>T	c.(388-390)Gag>Tag	p.E130*	NEXN_ENST00000457030.1_Nonsense_Mutation_p.E130*|NEXN_ENST00000330010.8_Nonsense_Mutation_p.E66*|NEXN_ENST00000294624.8_Nonsense_Mutation_p.E130*	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.E130*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		ACGCAGAATTGAGCAGGATAT	0.373																																																1	Substitution - Nonsense(1)	ovary(1)	1											130	127	128					1																	78383899		1908	4117	6025	78156487	SO:0001587	stop_gained	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.388G>T	1.37:g.78383899G>T	ENSP00000333938:p.Glu130*		78156487		Nonsense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.939585|6.939585	0.97948|0.97948	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324|ENST00000342754	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.53938|.	D|.	0.000060|.	.|T	.|0.71476	.|0.3344	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68085	.|-0.5502	.|3	0.62326|.	D|.	0.03|.	-16.3273|-16.3273	19.2924|19.2924	0.94105|0.94105	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	66;130;66;130;130;130|29	.|.	ENSP00000294624:E130X|.	E|L	+|+	1|3	0|2	NEXN|NEXN	78156487|78156487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.794000|6.794000	0.75135|0.75135	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GAG|TTG		0.373	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		T	78383899	G	T	78383899	4	4	289	1	0	0	0	0	0	1	0	0	10355	1291	45	3	402	3	NEXN	1	78383899	Nonsense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	32224479	78383899	170866722	2	15926											
RBMXL1	494115	broad.mit.edu	37	1	89448770	89448770	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr1:89448770C>G	ENST00000321792.5	-	2	1167	c.740G>C	c.(739-741)gGt>gCt	p.G247A	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.G247A|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	247					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G247A(1)									ACTGGAATGACCATAATCACG	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											177	156	163					1																	89448770		2203	4298	6501	89221358	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.740G>C	1.37:g.89448770C>G	ENSP00000318415:p.Gly247Ala		89221358		Missense_Mutation	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548961	0.27652	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.79845	-1.31;-1.31	1.76	1.76	0.24704	.	0.206159	0.42964	D	0.000622	T	0.64305	0.2586	M	0.62266	1.93	0.29879	N	0.826229	P	0.34977	0.478	B	0.37731	0.257	T	0.58393	-0.7644	10	0.42905	T	0.14	.	9.1404	0.36899	0.0:1.0:0.0:0.0	.	247	Q96E39	RBMXL_HUMAN	A	247	ENSP00000318415:G247A;ENSP00000446099:G247A	ENSP00000318415:G247A	G	-	2	0	RBMXL1	89221358	1.000000	0.71417	0.786000	0.31890	0.675000	0.39556	3.753000	0.55180	0.982000	0.38575	0.306000	0.20318	GGT		0.428	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		G	89448770	C	G	89448770	3	3	289	1	0	0	0	0	1	0	0	0	13156	507	18	3	436	3	RBMXL1	1	89448770	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	11064871	89448770	159801851	3	15927											
LYST	1130	broad.mit.edu	37	1	235993636	235993636	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr1:235993636C>T	ENST00000389794.3	-	3	256	c.82G>A	c.(82-84)Gag>Aag	p.E28K	LYST_ENST00000536965.1_Missense_Mutation_p.E28K|LYST_ENST00000389793.2_Missense_Mutation_p.E28K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	28					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E28K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCCCTGGCCTCCACCCTCTGG	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											88	83	85					1																	235993636		2203	4300	6503	234060259	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.82G>A	1.37:g.235993636C>T	ENSP00000374444:p.Glu28Lys		234060259	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	36	5.839809	0.97009	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.72505	-0.66;-0.66;0.49	5.86	5.86	0.93980	.	0.203176	0.42294	D	0.000728	D	0.83202	0.5203	L	0.60455	1.87	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.997	D	0.83576	0.0115	10	0.87932	D	0	.	20.1813	0.98205	0.0:1.0:0.0:0.0	.	28;28;28	B7ZMN7;Q99698-3;Q99698	.;.;LYST_HUMAN	K	28	ENSP00000374444:E28K;ENSP00000374443:E28K;ENSP00000438315:E28K	ENSP00000374443:E28K	E	-	1	0	LYST	234060259	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.177000	0.77650	2.763000	0.94921	0.585000	0.79938	GAG		0.493	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235993636	C	T	235993636	3	4	289	1	0	0	0	0	1	0	0	0	9128	864	30	2	11527	2	LYST	1	235993636	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	146544866	235993636	13256985	4	15928											
HTRA2	27429	broad.mit.edu	37	2	74758044	74758044	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr2:74758044C>T	ENST00000258080.3	+	3	1348	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	240	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.L240F(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TTAGGAGCCTCTCCCCACGCT	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											199	211	207					2																	74758044		2203	4300	6503	74611552	SO:0001583	missense	27429				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.718C>T	2.37:g.74758044C>T	ENSP00000258080:p.Leu240Phe		74611552	Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454454	0.63290	.	.	ENSG00000115317	ENST00000258080;ENST00000437202	D;D	0.89875	-2.58;-2.58	4.64	4.64	0.57946	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	L	0.60012	1.86	0.80722	D	1	D;D;D	0.67145	0.994;0.996;0.994	D;P;D	0.67231	0.95;0.898;0.938	D	0.93064	0.6477	10	0.72032	D	0.01	-13.419	15.3795	0.74641	0.0:1.0:0.0:0.0	.	240;240;240	A8K7G2;O43464-3;O43464	.;.;HTRA2_HUMAN	F	240;227	ENSP00000258080:L240F;ENSP00000399166:L227F	ENSP00000258080:L240F	L	+	1	0	HTRA2	74611552	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.761000	0.55242	2.584000	0.87258	0.462000	0.41574	CTC		0.567	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		T	74758044	C	T	74758044	3	4	289	1	0	0	0	0	1	0	0	0	7454	913	32	2	728	2	HTRA2	2	74758044	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08		74758044	168441329	5	15929											
KCNH7	90134	broad.mit.edu	37	2	163302673	163302673	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr2:163302673A>C	ENST00000332142.5	-	7	1508	c.1409T>G	c.(1408-1410)tTc>tGc	p.F470C	KCNH7_ENST00000328032.4_Missense_Mutation_p.F463C	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	470					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.F470C(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGTTGTTCTGAAGTTTATTAA	0.358																																					GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)	ovary(1)	2											99	92	94					2																	163302673		2203	4300	6503	163010919	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1409T>G	2.37:g.163302673A>C	ENSP00000331727:p.Phe470Cys		163010919	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133414	0.77662	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96041	-3.89;-3.89	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.99243	1.0885	10	0.87932	D	0	.	15.9661	0.79970	1.0:0.0:0.0:0.0	.	463;470	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	C	470;463	ENSP00000331727:F470C;ENSP00000333781:F463C	ENSP00000333781:F463C	F	-	2	0	KCNH7	163010919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.182000	0.69389	0.528000	0.53228	TTC		0.358	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		C	163302673	A	C	163302673	3	2	289	1	0	0	0	0	1	0	0	0	8037	246	9	5	2287	5	KCNH7	2	163302673	Missense_Mutation	SNP	A	TCGA-25-1319-01A-01W-0492-08	88544629	163302673	79896700	6	15930											
SCN9A	6335	broad.mit.edu	37	2	167085346	167085346	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr2:167085346G>T	ENST00000409435.1	-	21	4060	c.4061C>A	c.(4060-4062)aCa>aAa	p.T1354K	SCN9A_ENST00000375387.4_Missense_Mutation_p.T1355K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.T1355K|SCN9A_ENST00000409672.1_Missense_Mutation_p.T1343K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1354					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.T1343K(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACCCATCTGTGGTGTTAAT	0.398																																																1	Substitution - Missense(1)	ovary(1)	2											206	213	210					2																	167085346		2098	4260	6358	166793592	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4061C>A	2.37:g.167085346G>T	ENSP00000386330:p.Thr1354Lys		166793592	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632473	0.87660	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000011	D	0.99080	0.9684	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.99675	1.0997	10	0.87932	D	0	.	18.8019	0.92022	0.0:0.0:1.0:0.0	.	1343	E7EUN6	.	K	1343;1355;1355;1354	ENSP00000386306:T1343K;ENSP00000364536:T1355K;ENSP00000304748:T1355K;ENSP00000386330:T1354K	ENSP00000304748:T1355K	T	-	2	0	SCN9A	166793592	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.858000	0.86971	2.454000	0.82982	0.557000	0.71058	ACA		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167085346	G	T	167085346	3	4	289	1	0	0	0	0	1	0	0	0	13928	1377	48	3	1929	3	SCN9A	2	167085346	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	3782673	167085346	76114027	7	15931											
RAPH1	65059	broad.mit.edu	37	2	204304938	204304938	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr2:204304938G>A	ENST00000319170.5	-	14	3274	c.2975C>T	c.(2974-2976)cCc>cTc	p.P992L	RAPH1_ENST00000374493.3_Missense_Mutation_p.P1044L|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	992					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.P992L(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTCTCTTGGGCTCGGGGTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											87	92	91					2																	204304938		2203	4300	6503	204013183	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2975C>T	2.37:g.204304938G>A	ENSP00000316543:p.Pro992Leu		204013183	Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.692909	0.48202	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.44083	0.93;0.93	4.24	4.24	0.50183	.	0.245513	0.21192	U	0.078639	T	0.30417	0.0764	N	0.14661	0.345	0.80722	D	1	B	0.21606	0.058	B	0.21151	0.033	T	0.21861	-1.0233	10	0.87932	D	0	.	17.1608	0.86803	0.0:0.0:1.0:0.0	.	992	Q70E73	RAPH1_HUMAN	L	992;1044	ENSP00000316543:P992L;ENSP00000363617:P1044L	ENSP00000316543:P992L	P	-	2	0	RAPH1	204013183	.	.	0.968000	0.41197	0.410000	0.31052	.	.	2.368000	0.80403	0.467000	0.42956	CCC		0.597	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		A	204304938	G	A	204304938	3	1	289	1	0	0	0	0	1	0	0	0	13053	1232	43	2	781	2	RAPH1	2	204304938	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	37219592	204304938	38894435	8	15932											
TTLL4	9654	broad.mit.edu	37	2	219603723	219603723	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr2:219603723G>T	ENST00000392102.1	+	3	1664	c.1324G>T	c.(1324-1326)Gac>Tac	p.D442Y	TTLL4_ENST00000442769.1_Missense_Mutation_p.D442Y|TTLL4_ENST00000258398.4_Missense_Mutation_p.D442Y|TTLL4_ENST00000457313.1_Missense_Mutation_p.D277Y	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	442					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.D442Y(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ATCTGTAATTGACTCCTCAGC	0.527																																					GBM(172;1818 2053 15407 20943 49753)											1	Substitution - Missense(1)	ovary(1)	2											105	101	102					2																	219603723		2203	4300	6503	219311967	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1324G>T	2.37:g.219603723G>T	ENSP00000375951:p.Asp442Tyr		219311967	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	7.473	0.647125	0.14516	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05081	3.69;3.93;3.5;3.93	4.67	0.478	0.16789	.	0.655728	0.15203	N	0.274909	T	0.05456	0.0144	L	0.29908	0.895	0.09310	N	1	P;B;P	0.39576	0.679;0.146;0.679	B;B;B	0.41723	0.365;0.127;0.365	T	0.32851	-0.9891	10	0.59425	D	0.04	.	5.6115	0.17408	0.2743:0.1486:0.5771:0.0	.	277;442;442	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	Y	277;442;442;442	ENSP00000393332:D277Y;ENSP00000375951:D442Y;ENSP00000396555:D442Y;ENSP00000258398:D442Y	ENSP00000258398:D442Y	D	+	1	0	TTLL4	219311967	0.000000	0.05858	0.000000	0.03702	0.452000	0.32318	-0.080000	0.11339	0.207000	0.20607	0.561000	0.74099	GAC		0.527	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		T	219603723	G	T	219603723	3	4	289	1	0	0	0	0	1	0	0	0	16729	1290	45	3	1326	3	TTLL4	2	219603723	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	15298785	219603723	23595650	9	15933											
CAPN10	11132	broad.mit.edu	37	2	241534673	241534673	+	Silent	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr2:241534673G>A	ENST00000391984.2	+	7	1426	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	CAPN10_ENST00000404753.3_Silent_p.A410A|CAPN10_ENST00000391982.2_Silent_p.A410A|CAPN10_ENST00000354082.4_Silent_p.A410A|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	410	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.A410A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGAGCCCAGCGAGCATCCCGG	0.657																																																1	Substitution - coding silent(1)	ovary(1)	2											38	40	39					2																	241534673		2203	4300	6503	241183346	SO:0001819	synonymous_variant	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1230G>A	2.37:g.241534673G>A			241183346	A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	CCDS42838.1																																																																																				0.657	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		A	241534673	G	A	241534673	2	1	289	1	0	0	0	0	0	0	0	1	2623	1045	37	1		1	CAPN10	2	241534673	Silent	SNP	G	TCGA-25-1319-01A-01W-0492-08	21930950	241534673	1664700	10	15934											
SETD5	55209	broad.mit.edu	37	3	9470678	9470678	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr3:9470678T>C	ENST00000406341.1	+	2	246	c.56T>C	c.(55-57)aTg>aCg	p.M19T	AC018506.1_ENST00000578447.1_RNA|SETD5_ENST00000407969.1_Missense_Mutation_p.M19T|SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000302463.6_5'Flank|SETD5_ENST00000402198.1_Missense_Mutation_p.M19T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	19								p.M19T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TACTCAGATATGGCTGCTGGA	0.433																																																1	Substitution - Missense(1)	ovary(1)	3											101	102	102					3																	9470678		2018	4186	6204	9445678	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.56T>C	3.37:g.9470678T>C	ENSP00000383939:p.Met19Thr		9445678	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598999	0.66332	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000406341;ENST00000407969	T;D;D;D	0.95103	1.08;-3.61;-3.61;-3.41	6.16	6.16	0.99307	.	.	.	.	.	D	0.96632	0.8901	M	0.65498	2.005	0.80722	D	1	D	0.60160	0.987	D	0.66196	0.942	D	0.96993	0.9723	9	0.87932	D	0	-10.4331	16.8061	0.85666	0.0:0.0:0.0:1.0	.	19	Q9C0A6	SETD5_HUMAN	T	19	ENSP00000413786:M19T;ENSP00000385852:M19T;ENSP00000383939:M19T;ENSP00000384114:M19T	ENSP00000385852:M19T	M	+	2	0	SETD5	9445678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.414000	0.80117	2.367000	0.80283	0.528000	0.53228	ATG		0.433	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		C	9470678	T	C	9470678	3	2	289	1	0	0	0	0	1	0	0	0	14137	1464	51	4	58	4	SETD5	3	9470678	Missense_Mutation	SNP	T	TCGA-25-1319-01A-01W-0492-08		9470678	188551752	11	15935											
SNRK	54861	broad.mit.edu	37	3	43388910	43388910	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr3:43388910G>T	ENST00000296088.7	+	7	1463	c.1159G>T	c.(1159-1161)Gtc>Ttc	p.V387F	SNRK_ENST00000429705.2_Missense_Mutation_p.V387F|SNRK_ENST00000454177.1_Missense_Mutation_p.V387F|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000437827.1_Missense_Mutation_p.V181F|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase									p.V387F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CCACGCGACTGTCCCTCAGTC	0.547																																																1	Substitution - Missense(1)	ovary(1)	3											68	73	72					3																	43388910		2042	4197	6239	43363914	SO:0001583	missense	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1159G>T	3.37:g.43388910G>T	ENSP00000296088:p.Val387Phe		43363914		Missense_Mutation	SNP	ENST00000296088.7	37	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141596	0.57044	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.65916	-0.18;-0.18;-0.18;2.75	5.07	5.07	0.68467	.	0.061993	0.64402	D	0.000004	T	0.43433	0.1247	N	0.14661	0.345	0.58432	D	0.999998	P	0.45283	0.855	B	0.38327	0.271	T	0.42224	-0.9464	10	0.09084	T	0.74	.	18.8287	0.92128	0.0:0.0:1.0:0.0	.	387	Q9NRH2	SNRK_HUMAN	F	387;387;387;181	ENSP00000401246:V387F;ENSP00000411375:V387F;ENSP00000296088:V387F;ENSP00000409516:V181F	ENSP00000296088:V387F	V	+	1	0	SNRK	43363914	1.000000	0.71417	0.988000	0.46212	0.902000	0.53008	9.392000	0.97252	2.535000	0.85469	0.655000	0.94253	GTC		0.547	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		T	43388910	G	T	43388910	3	4	289	1	0	0	0	0	1	0	0	0	14854	1377	48	3	1177	3	SNRK	3	43388910	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	33918232	43388910	154633520	12	15936											
TIPARP	25976	broad.mit.edu	37	3	156421399	156421399	+	Silent	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr3:156421399C>T	ENST00000461166.1	+	5	2022	c.1434C>T	c.(1432-1434)taC>taT	p.Y478Y	TIPARP_ENST00000295924.7_Silent_p.Y478Y|TIPARP_ENST00000486483.1_Silent_p.Y478Y|TIPARP_ENST00000542783.1_Silent_p.Y478Y	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	478	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Y478Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGATCATTTACAATCTTTTTC	0.368																																					Ovarian(171;276 1987 3319 6837 11197)											1	Substitution - coding silent(1)	ovary(1)	3											83	86	85					3																	156421399		2203	4300	6503	157904093	SO:0001819	synonymous_variant	25976			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1434C>T	3.37:g.156421399C>T			157904093	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	37	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	8.557	0.876841	0.17395	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.35	-4.48	0.03515	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4916	0.75611	0.0:0.1318:0.0:0.8682	.	.	.	.	X	181	.	.	Q	+	1	0	TIPARP	157904093	0.999000	0.42202	0.931000	0.37212	0.982000	0.71751	0.584000	0.23864	-0.873000	0.04032	-0.145000	0.13849	CAA		0.368	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		T	156421399	C	T	156421399	2	4	289	1	0	0	0	0	0	0	0	1	15924	489	17	2		2	TIPARP	3	156421399	Silent	SNP	C	TCGA-25-1319-01A-01W-0492-08	113032489	156421399	41601031	13	15937											
YTHDC1	91746	broad.mit.edu	37	4	69184446	69184446	+	Splice_Site	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr4:69184446G>A	ENST00000344157.4	-	14	2058	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.R583*|YTHDC1_ENST00000355665.3_Splice_Site_p.R557*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	575	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R575*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCTGAAAATCGTCTGTTGGGA	0.343																																																1	Substitution - Nonsense(1)	ovary(1)	4											62	63	63					4																	69184446		2203	4300	6503	68867041	SO:0001630	splice_region_variant	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1722-1C>T	4.37:g.69184446G>A			68867041	Q4W5Q3|Q7Z622|Q8TF35	Nonsense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	42	9.508581	0.99190	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.362	0.66779	0.0:0.0:0.852:0.148	.	.	.	.	X	575;557	.	ENSP00000339245:R575X	R	-	1	2	YTHDC1	68867041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.321000	0.65846	2.615000	0.88500	0.591000	0.81541	CGA		0.343	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	Nonsense_Mutation	A	69184446	G	A	69184446	5	1	289	1	0	0	0	0	0	0	1	0	17496	1159	40	1	476	1	YTHDC1	4	69184446	Splice_Site	SNP	G	TCGA-25-1319-01A-01W-0492-08		69184446	121969830	14	15938											
PCDH10	57575	broad.mit.edu	37	4	134073508	134073508	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr4:134073508T>G	ENST00000264360.5	+	1	3039	c.2213T>G	c.(2212-2214)gTg>gGg	p.V738G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	738					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V738G(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTGCTGGCCGTGCGTTGCCAA	0.587																																																1	Substitution - Missense(1)	ovary(1)	4											88	95	93					4																	134073508		2203	4300	6503	134292958	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2213T>G	4.37:g.134073508T>G	ENSP00000264360:p.Val738Gly		134292958	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430485	0.62844	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.57595	0.39	4.48	4.48	0.54585	.	0.000000	0.40818	N	0.001004	T	0.60625	0.2283	L	0.52266	1.64	0.80722	D	1	D;P	0.57899	0.981;0.91	P;P	0.55871	0.601;0.786	T	0.65442	-0.6167	10	0.87932	D	0	.	13.6128	0.62091	0.0:0.0:0.0:1.0	.	738;738	Q9P2E7;Q96SF0	PCD10_HUMAN;.	G	738	ENSP00000264360:V738G	ENSP00000264360:V738G	V	+	2	0	PCDH10	134292958	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.957000	0.70323	1.883000	0.54544	0.459000	0.35465	GTG		0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		G	134073508	T	G	134073508	3	3	289	1	0	0	0	0	1	0	0	0	11507	1696	59	5	2215	5	PCDH10	4	134073508	Missense_Mutation	SNP	T	TCGA-25-1319-01A-01W-0492-08	64889062	134073508	57080768	15	15939											
ACSL1	2180	broad.mit.edu	37	4	185689498	185689498	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr4:185689498G>A	ENST00000515030.1	-	12	1425	c.1100C>T	c.(1099-1101)cCa>cTa	p.P367L	ACSL1_ENST00000513317.1_Missense_Mutation_p.P367L|ACSL1_ENST00000504900.1_Missense_Mutation_p.P367L|ACSL1_ENST00000437665.3_Missense_Mutation_p.P196L|ACSL1_ENST00000454703.2_Missense_Mutation_p.P196L|ACSL1_ENST00000507295.1_Missense_Mutation_p.P333L|ACSL1_ENST00000504342.1_Missense_Mutation_p.P367L|ACSL1_ENST00000281455.2_Missense_Mutation_p.P367L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	367					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.P367L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAGCAGTCTTGGAACCACGGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	4											174	155	161					4																	185689498		2203	4300	6503	185926492	SO:0001583	missense	2180			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1100C>T	4.37:g.185689498G>A	ENSP00000422607:p.Pro367Leu		185926492	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020518	0.93462	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317;ENST00000504900	T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.64	5.64	0.86602	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	H	0.99906	4.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88947	0.3384	10	0.87932	D	0	-16.7893	19.2951	0.94118	0.0:0.0:1.0:0.0	.	333;367;367;367	E7EPM6;B7Z452;D6RER0;P33121	.;.;.;ACSL1_HUMAN	L	196;367;367;333;196;367;367;367	ENSP00000407165:P196L;ENSP00000422607:P367L;ENSP00000281455:P367L;ENSP00000426244:P333L;ENSP00000405687:P196L;ENSP00000425006:P367L;ENSP00000426150:P367L;ENSP00000424935:P367L	ENSP00000281455:P367L	P	-	2	0	ACSL1	185926492	1.000000	0.71417	0.192000	0.23308	0.849000	0.48306	9.679000	0.98649	2.653000	0.90120	0.655000	0.94253	CCA		0.522	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		A	185689498	G	A	185689498	3	1	289	1	0	0	0	0	1	0	0	0	177	1348	47	2	1036	2	ACSL1	4	185689498	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	51615990	185689498	5464778	16	15940											
PRDM9	56979	broad.mit.edu	37	5	23527677	23527677	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr5:23527677C>G	ENST00000296682.3	+	11	2662	c.2480C>G	c.(2479-2481)aCa>aGa	p.T827R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	827					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.T827R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGGACACACACAGGGGAGAAG	0.582										HNSCC(3;0.000094)																																						1	Substitution - Missense(1)	ovary(1)	5											40	54	49					5																	23527677		2151	4273	6424	23563434	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2480C>G	5.37:g.23527677C>G	ENSP00000296682:p.Thr827Arg		23563434	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345879	0.41599	.	.	ENSG00000164256	ENST00000296682	T	0.25749	1.78	3.02	3.02	0.34903	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28001	0.0690	L	0.33753	1.03	0.45704	D	0.998611	P	0.49961	0.93	P	0.50231	0.635	T	0.09465	-1.0673	9	0.72032	D	0.01	-0.0365	12.4022	0.55420	0.0:1.0:0.0:0.0	.	827	Q9NQV7	PRDM9_HUMAN	R	827	ENSP00000296682:T827R	ENSP00000296682:T827R	T	+	2	0	PRDM9	23563434	0.992000	0.36948	0.999000	0.59377	0.158000	0.22134	3.293000	0.51779	2.038000	0.60285	0.472000	0.43445	ACA		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		G	23527677	C	G	23527677	3	3	289	1	0	0	0	0	1	0	0	0	12466	478	17	3	2518	3	PRDM9	5	23527677	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08		23527677	157387583	17	15941											
DEPDC1B	55789	broad.mit.edu	37	5	59982922	59982922	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr5:59982922G>T	ENST00000265036.5	-	2	248	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q34K|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q61K	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	61	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q61K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CCGAAGTTTTGACTGCACCTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	5											103	93	97					5																	59982922		2203	4300	6503	60018679	SO:0001583	missense	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.181C>A	5.37:g.59982922G>T	ENSP00000265036:p.Gln61Lys		60018679	A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021878	0.35701	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.21191	2.02;2.02;2.02	5.64	4.77	0.60923	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.422883	0.28448	N	0.015317	T	0.15522	0.0374	N	0.16368	0.405	0.40634	D	0.981889	B;B	0.23806	0.091;0.073	B;B	0.29663	0.105;0.105	T	0.07829	-1.0752	9	.	.	.	-21.1787	16.3686	0.83344	0.0:0.0:0.8671:0.1329	.	61;61	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	K	61;61;34	ENSP00000265036:Q61K;ENSP00000389101:Q61K;ENSP00000438320:Q34K	.	Q	-	1	0	DEPDC1B	60018679	1.000000	0.71417	0.964000	0.40570	0.928000	0.56348	2.351000	0.44071	1.507000	0.48752	0.561000	0.74099	CAA		0.488	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		T	59982922	G	T	59982922	3	4	289	1	0	0	0	0	1	0	0	0	4440	1299	45	3	1448	3	DEPDC1B	5	59982922	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	36455245	59982922	120932338	18	15942											
ADAMTS19	171019	broad.mit.edu	37	5	129019935	129019935	+	Silent	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr5:129019935C>T	ENST00000274487.4	+	18	2914	c.2769C>T	c.(2767-2769)agC>agT	p.S923S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	923	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S923S(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CACACACAAGCTGGGAAGATT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	5											85	82	83					5																	129019935		2203	4300	6503	129047834	SO:0001819	synonymous_variant	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2769C>T	5.37:g.129019935C>T			129047834		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.408	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		T	129019935	C	T	129019935	2	4	289	1	0	0	0	0	0	0	0	1	264	796	28	2		2	ADAMTS19	5	129019935	Silent	SNP	C	TCGA-25-1319-01A-01W-0492-08	69037013	129019935	51895325	19	15943											
PCDHGB6	56100	broad.mit.edu	37	5	140789004	140789004	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr5:140789004G>A	ENST00000520790.1	+	1	1235	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGAGAGCAGACA	0.453																																																0			5											64	69	67					5																	140789004		2018	4192	6210	140769188	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1235G>A	5.37:g.140789004G>A	ENSP00000428603:p.Arg412Gln		140769188	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	17.21	3.331940	0.60853	.	.	ENSG00000253305	ENST00000520790	T	0.01725	4.67	5.36	5.36	0.76844	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.24431	0.0592	H	0.99357	4.53	0.33398	D	0.576957	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62872	-0.6762	9	0.87932	D	0	.	18.7032	0.91629	0.0:0.0:1.0:0.0	.	412;412	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	Q	412	ENSP00000428603:R412Q	ENSP00000428603:R412Q	R	+	2	0	PCDHGB6	140769188	1.000000	0.71417	0.888000	0.34837	0.035000	0.12851	9.857000	0.99534	2.508000	0.84585	0.563000	0.77884	CGA		0.453	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		A	140789004	G	A	140789004	3	1	289	1	0	0	0	0	1	0	0	0	11567	1058	37	1	1237	1	PCDHGB6	5	140789004	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	11769069	140789004	40126256	20	15944											
CCDC99	54908	broad.mit.edu	37	5	169025560	169025560	+	Silent	SNP	T	T	G			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr5:169025560T>G	ENST00000265295.4	+	9	1392	c.1113T>G	c.(1111-1113)ctT>ctG	p.L371L		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.L371L(1)									CAGATTTACTTCAGATGAAGC	0.363																																																1	Substitution - coding silent(1)	ovary(1)	5											149	156	154					5																	169025560		2203	4300	6503	168958138	SO:0001819	synonymous_variant	54908			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1113T>G	5.37:g.169025560T>G			168958138		Silent	SNP	ENST00000265295.4	37	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	T	8.704	0.910414	0.17833	.	.	ENSG00000040275	ENST00000505977	.	.	.	5.85	3.43	0.39272	.	.	.	.	.	T	0.57784	0.2077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50964	-0.8765	4	.	.	.	-11.0546	8.2315	0.31601	0.0:0.0681:0.2686:0.6632	.	.	.	.	A	292	.	.	S	+	1	0	CCDC99	168958138	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.852000	0.27764	0.467000	0.27218	-0.329000	0.08387	TCA		0.363	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		G	169025560	T	G	169025560	2	3	289	1	0	0	0	0	0	0	0	1	2876	1770	62	5		5	CCDC99	5	169025560	Silent	SNP	T	TCGA-25-1319-01A-01W-0492-08	28236556	169025560	11889700	21	15945											
HK3	3101	broad.mit.edu	37	5	176316506	176316506	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr5:176316506C>T	ENST00000292432.5	-	8	881	c.790G>A	c.(790-792)Gac>Aac	p.D264N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	264	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.D264N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGCCCCGGTCTTCGTCCAGC	0.642																																																1	Substitution - Missense(1)	ovary(1)	5											102	84	90					5																	176316506		2203	4300	6503	176249112	SO:0001583	missense	3101				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.790G>A	5.37:g.176316506C>T	ENSP00000292432:p.Asp264Asn		176249112	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814524	0.70912	.	.	ENSG00000160883	ENST00000292432	D	0.98105	-4.72	5.34	5.34	0.76211	Hexokinase, C-terminal (1);	0.000000	0.56097	D	0.000031	D	0.97776	0.9270	L	0.44542	1.39	0.41745	D	0.989637	D	0.62365	0.991	D	0.71870	0.975	D	0.98260	1.0498	10	0.51188	T	0.08	-29.2367	15.3232	0.74139	0.0:0.8596:0.1403:0.0	.	264	P52790	HXK3_HUMAN	N	264	ENSP00000292432:D264N	ENSP00000292432:D264N	D	-	1	0	HK3	176249112	0.999000	0.42202	0.998000	0.56505	0.030000	0.12068	3.060000	0.49955	2.492000	0.84095	0.491000	0.48974	GAC		0.642	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			T	176316506	C	T	176316506	3	4	289	1	0	0	0	0	1	0	0	0	7192	913	32	2	2029	2	HK3	5	176316506	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	7290946	176316506	4598754	22	15946											
TRERF1	55809	broad.mit.edu	37	6	42231079	42231079	+	Silent	SNP	C	C	T	rs148325036		TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr6:42231079C>T	ENST00000372922.4	-	8	2425	c.1863G>A	c.(1861-1863)tcG>tcA	p.S621S	TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000541110.1_Silent_p.S621S|TRERF1_ENST00000372917.4_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	621	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S621S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCGTCGTCCGACATCGAGC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	6						C		0,4406		0,0,2203	69	72	71		1863	3.1	1	6	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRERF1	NM_033502.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		621/1201	42231079	1,13005	2203	4300	6503	42339057	SO:0001819	synonymous_variant	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1863G>A	6.37:g.42231079C>T			42339057	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	CCDS4867.1																																																																																				0.662	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		T	42231079	C	T	42231079	2	4	289	1	0	0	0	0	0	0	0	1	16475	639	23	1		1	TRERF1	6	42231079	Silent	SNP	C	TCGA-25-1319-01A-01W-0492-08		42231079	128883988	23	15947											
KIAA0240	23506	broad.mit.edu	37	6	42819929	42819929	+	Silent	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr6:42819929C>T	ENST00000314073.5	+	7	2115	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	GLTSCR1L_ENST00000394168.1_Silent_p.L647L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	647								p.L647L(1)									GAGCACCACACTGCCAGGTCA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	6											95	76	83					6																	42819929		2203	4300	6503	42927907	SO:0001819	synonymous_variant	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1939C>T	6.37:g.42819929C>T			42927907	A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	CCDS34451.1																																																																																				0.537	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		T	42819929	C	T	42819929	2	4	289	1	0	0	0	0	0	0	0	1	8164	564	20	2		2	KIAA0240	6	42819929	Silent	SNP	C	TCGA-25-1319-01A-01W-0492-08	588850	42819929	128295138	24	15948											
SDK1	221935	broad.mit.edu	37	7	4050614	4050614	+	Silent	SNP	G	G	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr7:4050614G>T	ENST00000404826.2	+	15	2287	c.2148G>T	c.(2146-2148)gtG>gtT	p.V716V	SDK1_ENST00000389531.3_Silent_p.V716V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	716	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V716V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATGGAAGGTGCATCTGTCAA	0.502																																																1	Substitution - coding silent(1)	ovary(1)	7											73	68	70					7																	4050614		2203	4300	6503	4017140	SO:0001819	synonymous_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2148G>T	7.37:g.4050614G>T			4017140	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.502	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4050614	G	T	4050614	2	4	289	1	0	0	0	0	0	0	0	1	13971	1306	46	3		3	SDK1	7	4050614	Silent	SNP	G	TCGA-25-1319-01A-01W-0492-08		4050614	155088049	25	15949											
INHBA	3624	broad.mit.edu	37	7	41729271	41729271	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr7:41729271C>T	ENST00000242208.4	-	3	1504	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.V420M|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	420					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.V420M(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACTCCTCCACGATCATGTTC	0.468										TSP Lung(11;0.080)																																						1	Substitution - Missense(1)	ovary(1)	7											92	83	86					7																	41729271		2203	4300	6503	41695796	SO:0001583	missense	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.1258G>A	7.37:g.41729271C>T	ENSP00000242208:p.Val420Met		41695796	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710691	0.68730	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.70631	-0.5;-0.5	5.71	5.71	0.89125	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90577	0.7046	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93338	0.6707	10	0.87932	D	0	-24.3042	19.8536	0.96748	0.0:1.0:0.0:0.0	.	420	P08476	INHBA_HUMAN	M	420	ENSP00000242208:V420M;ENSP00000397197:V420M	ENSP00000242208:V420M	V	-	1	0	INHBA	41695796	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.811000	0.86092	2.708000	0.92522	0.591000	0.81541	GTG		0.468	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			T	41729271	C	T	41729271	3	4	289	1	0	0	0	0	1	0	0	0	7741	536	19	1	26	1	INHBA	7	41729271	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	37678657	41729271	117409392	26	15950											
CALCR	799	broad.mit.edu	37	7	93108747	93108747	+	Missense_Mutation	SNP	C	C	T	rs544410123	byFrequency	TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr7:93108747C>T	ENST00000394441.1	-	3	439	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	CALCR_ENST00000359558.2_Missense_Mutation_p.V60I|CALCR_ENST00000421592.1_Missense_Mutation_p.V42I|CALCR_ENST00000426151.1_Missense_Mutation_p.V42I|CALCR_ENST00000360249.4_Missense_Mutation_p.V42I	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	60					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.V42I(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CGTCCTACGACGTAAAGAAAT	0.403													C|||	2	0.000399361	0	0	5008	,	,		17833	0.002		0	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	7											217	201	207					7																	93108747		2203	4300	6503	92946683	SO:0001583	missense	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.124G>A	7.37:g.93108747C>T	ENSP00000377959:p.Val42Ile		92946683	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	1.739	-0.492062	0.04322	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.21	-10.4	0.00318	.	.	.	.	.	T	0.24661	0.0598	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.13072	-1.0523	9	0.33141	T	0.24	.	4.8001	0.13292	0.2475:0.1518:0.0665:0.5343	.	60;42	F5H605;A4D1G6	.;.	I	60;42;42;42;42;42	ENSP00000352561:V60I;ENSP00000353385:V42I;ENSP00000399552:V42I;ENSP00000377959:V42I;ENSP00000389295:V42I	ENSP00000352561:V60I	V	-	1	0	CALCR	92946683	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.548000	0.00930	-4.171000	0.00068	-1.969000	0.00466	GTC		0.403	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		T	93108747	C	T	93108747	3	4	289	1	0	0	0	0	1	0	0	0	2579	536	19	1	1396	1	CALCR	7	93108747	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	51379476	93108747	66029916	27	15951											
RELN	5649	broad.mit.edu	37	7	103179742	103179742	+	Silent	SNP	C	C	T	rs577520481	byFrequency	TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr7:103179742C>T	ENST00000428762.1	-	45	7122	c.6963G>A	c.(6961-6963)acG>acA	p.T2321T	RELN_ENST00000343529.5_Silent_p.T2321T|RELN_ENST00000424685.2_Silent_p.T2321T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2321					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.T2321T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCCAAGACCGTATTACCAG	0.398													C|||	2	0.000399361	0	0	5008	,	,		20187	0		0	False		,,,				2504	0.002				NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - coding silent(1)	ovary(1)	7											60	61	61					7																	103179742		2203	4300	6503	102966978	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6963G>A	7.37:g.103179742C>T			102966978	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																				0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103179742	C	T	103179742	2	4	289	1	0	0	0	0	0	0	0	1	13223	639	23	1		1	RELN	7	103179742	Silent	SNP	C	TCGA-25-1319-01A-01W-0492-08	10070995	103179742	55958921	28	15952											
OR2A12	346525	broad.mit.edu	37	7	143792231	143792231	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr7:143792231G>T	ENST00000408949.2	+	1	91	c.31G>T	c.(31-33)Gtc>Ttc	p.V11F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V11F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GATCACAGAAGTCATCCTGTT	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											119	113	115					7																	143792231		1868	4110	5978	143423164	SO:0001583	missense	346525				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.31G>T	7.37:g.143792231G>T	ENSP00000386174:p.Val11Phe		143423164	Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.098087	0.00360	.	.	ENSG00000221858	ENST00000408949	T	0.00012	9.32	4.42	2.41	0.29592	.	.	.	.	.	T	0.00012	0.0000	N	0.00009	-3.065	0.29303	N	0.868536	B	0.06786	0.001	B	0.04013	0.001	T	0.36432	-0.9748	9	0.02654	T	1	-20.207	4.7032	0.12837	0.1135:0.0:0.5657:0.3208	.	11	Q8NGT7	O2A12_HUMAN	F	11	ENSP00000386174:V11F	ENSP00000386174:V11F	V	+	1	0	OR2A12	143423164	0.007000	0.16637	0.969000	0.41365	0.089000	0.18198	-0.007000	0.12810	1.067000	0.40740	0.505000	0.49811	GTC		0.413	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			T	143792231	G	T	143792231	3	4	289	1	0	0	0	0	1	0	0	0	10975	1029	36	3	33	3	OR2A12	7	143792231	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	40612489	143792231	15346432	29	15953											
CDH17	1015	broad.mit.edu	37	8	95186438	95186438	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr8:95186438G>T	ENST00000027335.3	-	6	599	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	CDH17_ENST00000450165.2_Missense_Mutation_p.P159T|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.P159T(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGGCCATTGGGAGTGGCCGGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	8											168	169	169					8																	95186438		2203	4300	6503	95255614	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.475C>A	8.37:g.95186438G>T	ENSP00000027335:p.Pro159Thr		95255614	Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195173	0.78902	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.54479	0.57;0.57	5.96	5.96	0.96718	Cadherin (4);Cadherin-like (1);	0.474847	0.19998	N	0.101407	T	0.64227	0.2579	L	0.42529	1.33	0.52501	D	0.999951	D	0.65815	0.995	P	0.62740	0.906	T	0.54091	-0.8345	10	0.22706	T	0.39	-0.1113	19.1934	0.93677	0.0:0.0:1.0:0.0	.	159	Q12864	CAD17_HUMAN	T	159	ENSP00000027335:P159T;ENSP00000401468:P159T	ENSP00000027335:P159T	P	-	1	0	CDH17	95255614	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.631000	0.74277	2.832000	0.97577	0.655000	0.94253	CCC		0.408	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		T	95186438	G	T	95186438	3	4	289	1	0	0	0	0	1	0	0	0	3102	1174	41	3	2075	3	CDH17	8	95186438	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08		95186438	51177584	30	15954											
NDUFB9	4715	broad.mit.edu	37	8	125551521	125551521	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr8:125551521G>T	ENST00000276689.3	+	1	178	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F	NDUFB9_ENST00000522532.1_Missense_Mutation_p.V32F|TATDN1_ENST00000276692.6_5'Flank|TATDN1_ENST00000605953.1_5'Flank|TATDN1_ENST00000521546.1_5'Flank|NDUFB9_ENST00000517367.1_Missense_Mutation_p.V32F|NDUFB9_ENST00000518008.1_Missense_Mutation_p.V32F|TATDN1_ENST00000517678.1_5'Flank|TATDN1_ENST00000519548.1_5'Flank	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	32					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.V32F(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTCGTGGTGCGTCCAGAGGTA	0.637																																																1	Substitution - Missense(1)	ovary(1)	8											48	48	48					8																	125551521		2203	4300	6503	125620702	SO:0001583	missense	4715			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7704	protein-coding gene	gene with protein product	"complex I B22 subunit"	601445	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.94G>T	8.37:g.125551521G>T	ENSP00000276689:p.Val32Phe		125620702	B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	G	9.033	0.987864	0.18966	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;T;T;T	0.75050	-0.32;-0.32;-0.32;-0.9	5.38	-10.8	0.00216	.	1.219440	0.05558	N	0.568770	T	0.68550	0.3013	M	0.80982	2.52	0.22240	N	0.99926	B;B	0.20459	0.045;0.004	B;B	0.25884	0.064;0.017	T	0.46205	-0.9208	10	0.10377	T	0.69	-0.6504	11.2716	0.49142	0.7337:0.0789:0.1081:0.0793	.	32;32	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	F	32	ENSP00000276689:V32F;ENSP00000428282:V32F;ENSP00000431115:V32F;ENSP00000430322:V32F	ENSP00000276689:V32F	V	+	1	0	NDUFB9	125620702	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-0.381000	0.07417	-2.989000	0.00280	-0.882000	0.02950	GTC		0.637	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		T	125551521	G	T	125551521	3	4	289	1	0	0	0	0	1	0	0	0	10288	1145	40	3	96	3	NDUFB9	8	125551521	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	30365083	125551521	20812501	31	15955											
ARHGAP21	57584	broad.mit.edu	37	10	24874369	24874369	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr10:24874369C>T	ENST00000396432.2	-	26	5335	c.4849G>A	c.(4849-4851)Gac>Aac	p.D1617N		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1616	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.D1616N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTGCCTCGTCCCCCTTGCTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	10											77	77	77					10																	24874369		2203	4300	6503	24914375	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4849G>A	10.37:g.24874369C>T	ENSP00000379709:p.Asp1617Asn		24914375	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607998	0.46527	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.13657	2.57	5.19	3.24	0.37175	.	0.272342	0.40640	N	0.001057	T	0.16854	0.0405	L	0.59436	1.845	0.80722	D	1	B	0.31383	0.321	B	0.31812	0.136	T	0.07328	-1.0778	10	0.72032	D	0.01	.	14.1659	0.65475	0.2723:0.7277:0.0:0.0	.	1616	Q5T5U3	RHG21_HUMAN	N	1617;1066	ENSP00000379709:D1617N	ENSP00000379709:D1617N	D	-	1	0	ARHGAP21	24914375	1.000000	0.71417	0.019000	0.16419	0.526000	0.34562	4.777000	0.62361	1.151000	0.42436	0.591000	0.81541	GAC		0.567	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		T	24874369	C	T	24874369	3	4	289	1	0	0	0	0	1	0	0	0	871	855	30	2	1031	2	ARHGAP21	10	24874369	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08		24874369	110660378	32	15956											
FAM196A	642938	broad.mit.edu	37	10	128974383	128974383	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr10:128974383G>A	ENST00000522781.1	-	4	832	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.R93C	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	93								p.R93C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATGGACCTGCGTGCGGGCACT	0.617																																																1	Substitution - Missense(1)	ovary(1)	10											123	106	112					10																	128974383		2203	4300	6503	128864373	SO:0001583	missense	642938				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.277C>T	10.37:g.128974383G>A	ENSP00000429763:p.Arg93Cys		128864373	B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247164	0.80024	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.51325	0.71;0.71	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62923	-0.6751	10	0.59425	D	0.04	.	18.9361	0.92586	0.0:0.0:1.0:0.0	.	93;93	B7ZME7;Q6ZSG2	.;F196A_HUMAN	C	93	ENSP00000429763:R93C;ENSP00000428730:R93C	ENSP00000428730:R93C	R	-	1	0	FAM196A	128864373	0.999000	0.42202	0.366000	0.25914	0.978000	0.69477	2.855000	0.48333	2.552000	0.86080	0.563000	0.77884	CGC		0.617	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		A	128974383	G	A	128974383	3	1	289	1	0	0	0	0	1	0	0	0	5528	1145	40	1	1174	1	FAM196A	10	128974383	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	104100014	128974383	6560364	33	15957											
CORO1B	57175	broad.mit.edu	37	11	67210003	67210003	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr11:67210003G>A	ENST00000341356.5	-	2	207	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	CORO1B_ENST00000545016.1_Missense_Mutation_p.R33C|CORO1B_ENST00000453768.2_Missense_Mutation_p.R33C|CORO1B_ENST00000393893.1_Missense_Mutation_p.R33C|CORO1B_ENST00000539724.1_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	33					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)	p.R33C(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CAGGTAACACGGGACACGCGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	11											129	94	106					11																	67210003		2199	4295	6494	66966579	SO:0001583	missense	57175			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.97C>T	11.37:g.67210003G>A	ENSP00000340211:p.Arg33Cys		66966579	B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889250	0.91889	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.78246	-0.0;-0.0;1.76;-1.16	4.31	3.39	0.38822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Domain of unknown function DUF1899 (1);	0.000000	0.44285	D	0.000474	D	0.86464	0.5939	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.995;0.998;1.0	P;P;D	0.67725	0.892;0.886;0.953	D	0.87582	0.2485	10	0.62326	D	0.03	-13.6447	12.3892	0.55348	0.0839:0.0:0.9161:0.0	.	33;33;33	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	C	33;33;60;33;33	ENSP00000377471:R33C;ENSP00000340211:R33C;ENSP00000416006:R33C;ENSP00000438056:R33C	ENSP00000340211:R33C	R	-	1	0	CORO1B	66966579	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.577000	0.46042	1.145000	0.42336	0.563000	0.77884	CGT		0.597	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		A	67210003	G	A	67210003	3	1	289	1	0	0	0	0	1	0	0	0	3754	1116	39	1	1412	1	CORO1B	11	67210003	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08		67210003	67796513	34	15958											
ARID2	196528	broad.mit.edu	37	12	46230406	46230406	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr12:46230406G>A	ENST00000334344.6	+	7	912	c.740G>A	c.(739-741)cGt>cAt	p.R247H	ARID2_ENST00000422737.1_Missense_Mutation_p.R98H|ARID2_ENST00000444670.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	247					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R247H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATGAAGTTCGTGACCTCATT	0.274			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	ovary(1)	12											70	72	72					12																	46230406		2203	4300	6503	44516673	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.740G>A	12.37:g.46230406G>A	ENSP00000335044:p.Arg247His		44516673	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310954	0.81358	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T	0.36340	1.26	5.42	5.42	0.78866	.	0.054227	0.64402	D	0.000001	T	0.54498	0.1862	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.49844	-0.8896	10	0.46703	T	0.11	-9.6962	19.5742	0.95434	0.0:0.0:1.0:0.0	.	247	Q68CP9	ARID2_HUMAN	H	247;98	ENSP00000335044:R247H	ENSP00000335044:R247H	R	+	2	0	ARID2	44516673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.704000	0.74639	2.698000	0.92095	0.591000	0.81541	CGT		0.274	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		A	46230406	G	A	46230406	3	1	289	1	0	0	0	0	1	0	0	0	915	1145	40	1	766	1	ARID2	12	46230406	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08		46230406	87621489	35	15959											
KRT4	3851	broad.mit.edu	37	12	53207919	53207919	+	Missense_Mutation	SNP	C	C	G	rs199899456		TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr12:53207919C>G	ENST00000293774.4	-	1	416	c.146G>C	c.(145-147)cGa>cCa	p.R49P	KRT4_ENST00000458244.2_5'Flank|KRT4_ENST00000551956.1_5'UTR			P19013	K2C4_HUMAN	keratin 4	0	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R49P(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCTCAGCCTTCGTCTCTTATA	0.567																																					Pancreas(190;284 2995 41444 45903)											1	Substitution - Missense(1)	ovary(1)	12											30	36	34					12																	53207919		1972	4165	6137	51494186	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000293774.4:c.146G>C	12.37:g.53207919C>G	ENSP00000293774:p.Arg49Pro		51494186	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000293774.4	37		.	.	.	.	.	.	.	.	.	.	G	0.852	-0.738341	0.03111	.	.	ENSG00000170477	ENST00000293774	D	0.83506	-1.73	5.12	3.08	0.35506	.	.	.	.	.	T	0.74535	0.3729	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.62305	-0.6882	6	0.33141	T	0.24	.	4.0943	0.09983	0.0712:0.2193:0.3623:0.3472	.	.	.	.	P	49	ENSP00000293774:R49P	ENSP00000293774:R49P	R	-	2	0	KRT4	51494186	0.000000	0.05858	0.662000	0.29724	0.522000	0.34438	-0.529000	0.06186	0.637000	0.30526	-0.120000	0.15030	CGA		0.567	KRT4-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002272		G	53207919	C	G	53207919	3	3	289	1	0	0	0	0	1	0	0	0	8477	884	31	3	1674	3	KRT4	12	53207919	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	6977513	53207919	80643976	36	15960											
STAT6	6778	broad.mit.edu	37	12	57501507	57501507	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr12:57501507C>T	ENST00000300134.3	-	3	461	c.136G>A	c.(136-138)Gac>Aac	p.D46N	STAT6_ENST00000537215.2_5'UTR|STAT6_ENST00000556155.1_Missense_Mutation_p.D46N|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000543873.2_Missense_Mutation_p.D46N|STAT6_ENST00000454075.3_Missense_Mutation_p.D46N	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	46					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D46N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAGAAGGCGTCGGAGCCGACC	0.602																																																1	Substitution - Missense(1)	ovary(1)	12																																								55787774	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.136G>A	12.37:g.57501507C>T	ENSP00000300134:p.Asp46Asn		55787774	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380239	0.24944	.	.	ENSG00000166888	ENST00000300134;ENST00000543873;ENST00000556155;ENST00000454075;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397;ENST00000554663;ENST00000554825;ENST00000557635;ENST00000553275	T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.88	4.88	0.63580	STAT transcription factor, protein interaction (4);	0.185209	0.45606	D	0.000347	T	0.45357	0.1338	N	0.13235	0.315	0.80722	D	1	D;P	0.89917	1.0;0.951	D;B	0.91635	0.999;0.411	T	0.30504	-0.9976	10	0.02654	T	1	-16.9118	13.4016	0.60887	0.0:1.0:0.0:0.0	.	46;46	A8K4S9;P42226	.;STAT6_HUMAN	N	46	ENSP00000300134:D46N;ENSP00000438451:D46N;ENSP00000451742:D46N;ENSP00000401486:D46N;ENSP00000452394:D46N;ENSP00000452373:D46N;ENSP00000451074:D46N;ENSP00000452203:D46N;ENSP00000450665:D46N;ENSP00000451209:D46N;ENSP00000450747:D46N;ENSP00000450732:D46N	ENSP00000300134:D46N	D	-	1	0	STAT6	55787774	0.688000	0.27680	0.127000	0.21898	0.512000	0.34134	1.937000	0.40193	2.532000	0.85374	0.655000	0.94253	GAC		0.602	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		T	57501507	C	T	57501507	3	4	289	1	0	0	0	0	1	0	0	0	15272	884	31	1	2487	1	STAT6	12	57501507	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	4293588	57501507	76350388	37	15961											
TPCN1	53373	broad.mit.edu	37	12	113706676	113706676	+	Splice_Site	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr12:113706676C>T	ENST00000335509.6	+	6	972	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	TPCN1_ENST00000550785.1_Splice_Site_p.R292C|TPCN1_ENST00000392569.4_Splice_Site_p.R152C|TPCN1_ENST00000541517.1_Splice_Site_p.R292C	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	220					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.R220C(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGGCGTCCGGCGGTAAGGCCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	12											112	86	95					12																	113706676		2203	4300	6503	112191059	SO:0001630	splice_region_variant	53373			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.659+1C>T	12.37:g.113706676C>T			112191059	A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717531	0.89205	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98667	1.0686	10	0.44086	T	0.13	-22.5982	11.1773	0.48607	0.3138:0.6862:0.0:0.0	.	220;292;220	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	C	220;292;292;152	ENSP00000335300:R220C;ENSP00000448083:R292C;ENSP00000438125:R292C;ENSP00000376350:R152C	ENSP00000335300:R220C	R	+	1	0	TPCN1	112191059	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.029000	0.64121	2.533000	0.85409	0.655000	0.94253	CGC		0.632	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901	Missense_Mutation	T	113706676	C	T	113706676	5	4	289	1	0	0	0	0	0	0	1	0	16395	782	27	1	896	1	TPCN1	12	113706676	Splice_Site	SNP	C	TCGA-25-1319-01A-01W-0492-08	56205169	113706676	20145219	38	15962											
L2HGDH	79944	broad.mit.edu	37	14	50735979	50735979	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr14:50735979T>C	ENST00000267436.4	-	7	1205	c.808A>G	c.(808-810)Agt>Ggt	p.S270G	L2HGDH_ENST00000261699.4_Missense_Mutation_p.S270G|L2HGDH_ENST00000421284.3_Missense_Mutation_p.S270G			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	270					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)	p.S270G(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GTGCAGCCACTCAACTCTGAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	14											128	124	125					14																	50735979		2203	4300	6503	49805729	SO:0001583	missense	79944				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.808A>G	14.37:g.50735979T>C	ENSP00000267436:p.Ser270Gly		49805729	Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	CCDS9698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.241125|4.241125	0.79912|0.79912	.|.	.|.	ENSG00000087299|ENSG00000087299	ENST00000557131|ENST00000261699;ENST00000267436;ENST00000421284	.|D;D;D	.|0.85702	.|-2.02;-2.02;-2.02	5.57|5.57	5.57|5.57	0.84162|0.84162	.|FAD dependent oxidoreductase (1);	.|0.088247	.|0.85682	.|D	.|0.000000	.|D	.|0.90222	.|0.6943	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.993	.|D;D	.|0.69307	.|0.963;0.963	.|D	.|0.89395	.|0.3691	.|10	.|0.38643	.|T	.|0.18	.|-10.2095	16.0372|16.0372	0.80640|0.80640	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|270;270	.|C9JVN9;Q9H9P8	.|.;L2HDH_HUMAN	.|G	-1|270	.|ENSP00000261699:S270G;ENSP00000267436:S270G;ENSP00000405559:S270G	.|ENSP00000261699:S270G	.|S	-|-	.|1	.|0	L2HGDH|L2HGDH	49805729|49805729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.986000|5.986000	0.70563|0.70563	2.254000|2.254000	0.74563|0.74563	0.523000|0.523000	0.50628|0.50628	.|AGT		0.398	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		C	50735979	T	C	50735979	3	2	289	1	0	0	0	0	1	0	0	0	8590	1551	54	4	599	4	L2HGDH	14	50735979	Missense_Mutation	SNP	T	TCGA-25-1319-01A-01W-0492-08		50735979	56613561	39	15963											
PCNX	22990	broad.mit.edu	37	14	71492844	71492844	+	Missense_Mutation	SNP	G	G	A	rs373015087		TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr14:71492844G>A	ENST00000304743.2	+	14	3640	c.3194G>A	c.(3193-3195)cGt>cAt	p.R1065H	PCNX_ENST00000439984.3_Missense_Mutation_p.R954H|PCNX_ENST00000238570.5_Missense_Mutation_p.R1065H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1065						integral component of membrane (GO:0016021)		p.R1065H(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGTCATAATCGTATCATTGCC	0.348													G|||	1	0.000199681	8e-04	0	5008	,	,		17142	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	14						G	HIS/ARG	0,4406		0,0,2203	144	132	136		3194	5.6	1	14		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNX	NM_014982.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1065/2342	71492844	1,13005	2203	4300	6503	70562597	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3194G>A	14.37:g.71492844G>A	ENSP00000304192:p.Arg1065His		70562597	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.932368|4.932368	0.92389|0.92389	0.0|0.0	1.16E-4|1.16E-4	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.62232|.	0.04;0.04;0.04|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72220|0.72220	0.3433|0.3433	L|L	0.55743|0.55743	1.74|1.74	0.80722|0.80722	D|D	1|1	P;D|.	0.89917|.	0.872;1.0|.	B;D|.	0.78314|.	0.301;0.991|.	T|T	0.68254|0.68254	-0.5457|-0.5457	10|5	0.34782|.	T|.	0.22|.	.|.	19.6932|19.6932	0.96010|0.96010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	954;1065|.	B2RTR6;Q96RV3|.	.;PCX1_HUMAN|.	H|I	1065;1065;954|124	ENSP00000304192:R1065H;ENSP00000238570:R1065H;ENSP00000396617:R954H|.	ENSP00000238570:R1065H|.	R|V	+|+	2|1	0|0	PCNX|PCNX	70562597|70562597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.951000|7.951000	0.87819|0.87819	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.348	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71492844	G	A	71492844	3	1	289	1	0	0	0	0	1	0	0	0	11591	1145	40	1	3248	1	PCNX	14	71492844	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	20756865	71492844	35856696	40	15964											
TDRD9	122402	broad.mit.edu	37	14	104457534	104457534	+	Nonsense_Mutation	SNP	C	C	T	rs377183290		TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr14:104457534C>T	ENST00000409874.4	+	9	1201	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	TDRD9_ENST00000339063.5_Nonsense_Mutation_p.R385*	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	385	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R100*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTGTTGGAGCGAAGCAGTGT	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	14											193	173	180					14																	104457534		2203	4300	6503	103527287	SO:0001587	stop_gained	122402			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1153C>T	14.37:g.104457534C>T	ENSP00000387303:p.Arg385*		103527287	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Nonsense_Mutation	SNP	ENST00000409874.4	37	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.442261|5.442261	0.96187|0.96187	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|.	.|.	.|.	5.63|5.63	4.72|4.72	0.59763|0.59763	.|.	.|0.224693	.|0.31145	.|N	.|0.008165	T|.	0.34308|.	0.0893|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35276|.	-0.9795|.	3|.	.|0.02654	.|T	.|1	.|.	13.7168|13.7168	0.62702|0.62702	0.1545:0.8455:0.0:0.0|0.1545:0.8455:0.0:0.0	.|.	.|.	.|.	.|.	V|X	111|385	.|.	.|ENSP00000343545:R385X	A|R	+|+	2|1	0|2	TDRD9|TDRD9	103527287|103527287	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.933000|0.933000	0.57130|0.57130	0.920000|0.920000	0.28705|0.28705	1.323000|1.323000	0.45263|0.45263	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.408	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		T	104457534	C	T	104457534	4	4	289	1	0	0	0	0	0	1	0	0	15736	760	27	1	1187	1	TDRD9	14	104457534	Nonsense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	32964690	104457534	2892006	41	15965											
TRPM7	54822	broad.mit.edu	37	15	50901807	50901807	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr15:50901807C>A	ENST00000313478.7	-	19	2832	c.2551G>T	c.(2551-2553)Gca>Tca	p.A851S	TRPM7_ENST00000560955.1_Missense_Mutation_p.A851S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	851					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A851S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACAATTGGTGCATGATAAAAG	0.343																																																1	Substitution - Missense(1)	ovary(1)	15											171	158	162					15																	50901807		1826	4072	5898	48689099	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2551G>T	15.37:g.50901807C>A	ENSP00000320239:p.Ala851Ser		48689099	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217128	0.95104	.	.	ENSG00000092439	ENST00000313478	T	0.74737	-0.87	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	M	0.69463	2.115	0.80722	D	1	D	0.57899	0.981	P	0.58970	0.849	D	0.85246	0.1041	10	0.87932	D	0	-17.1912	19.5869	0.95493	0.0:1.0:0.0:0.0	.	851	Q96QT4	TRPM7_HUMAN	S	851	ENSP00000320239:A851S	ENSP00000320239:A851S	A	-	1	0	TRPM7	48689099	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.645000	0.89757	0.467000	0.42956	GCA		0.343	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		A	50901807	C	A	50901807	3	1	289	1	0	0	0	0	1	0	0	0	16591	710	25	3	3130	3	TRPM7	15	50901807	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08		50901807	51629585	42	15966											
KIAA0556	23247	broad.mit.edu	37	16	27720106	27720106	+	Silent	SNP	G	G	A	rs375213710		TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr16:27720106G>A	ENST00000261588.4	+	13	1489	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000568831.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	490						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S490S(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGGGCAACTCGTGGTGGGTGG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	16											109	96	100					16																	27720106		2197	4300	6497	27627607	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1470G>A	16.37:g.27720106G>A			27627607	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.488	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		A	27720106	G	A	27720106	2	1	289	1	0	0	0	0	0	0	0	1	8183	1132	40	1		1	KIAA0556	16	27720106	Silent	SNP	G	TCGA-25-1319-01A-01W-0492-08		27720106	62634647	43	15967											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	289	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-25-1319-01A-01W-0492-08		7578190	73617020	44	15968											
SFRS1	6426	broad.mit.edu	37	17	56084348	56084348	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr17:56084348G>A	ENST00000258962.4	-	1	359	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	SRSF1_ENST00000584773.1_Missense_Mutation_p.R51C|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000585096.1_Missense_Mutation_p.R51C|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.R51C	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	51	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R51C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTCCCCCGCGGCGATTCTTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											126	112	117					17																	56084348		2203	4300	6503	53439347	SO:0001583	missense	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.151C>T	17.37:g.56084348G>A	ENSP00000258962:p.Arg51Cys		53439347	B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330547	0.41297	.	.	ENSG00000136450	ENST00000258962	T	0.06294	3.32	5.58	5.58	0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	M	0.89840	3.065	0.80722	D	1	B;B	0.33022	0.376;0.394	B;B	0.33690	0.168;0.117	T	0.00544	-1.1679	10	0.41790	T	0.15	.	13.4445	0.61134	0.0:0.0:0.8431:0.1569	.	83;51	Q59FA2;Q07955	.;SRSF1_HUMAN	C	51	ENSP00000258962:R51C	ENSP00000258962:R51C	R	-	1	0	SRSF1	53439347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.039000	0.57325	2.906000	0.99361	0.655000	0.94253	CGC		0.582	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		A	56084348	G	A	56084348	3	1	289	1	0	0	0	0	1	0	0	0	14168	1116	39	1	665	1	SFRS1	17	56084348	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	48506158	56084348	25110862	45	15969											
RYR1	6261	broad.mit.edu	37	19	39019037	39019037	+	Missense_Mutation	SNP	C	C	T	rs369390137		TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr19:39019037C>T	ENST00000359596.3	+	74	10916	c.10916C>T	c.(10915-10917)aCg>aTg	p.T3639M	RYR1_ENST00000355481.4_Missense_Mutation_p.T3634M|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.T3639M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3639	Interaction with CALM.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.T3639M(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTCCGTATGACGCCCCTGTAC	0.612																																																1	Substitution - Missense(1)	ovary(1)	19						C	MET/THR,MET/THR	0,4406		0,0,2203	54	50	51		10916,10901	4.8	1	19		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	3639/5039,3634/5034	39019037	1,13005	2203	4300	6503	43710877	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10916C>T	19.37:g.39019037C>T	ENSP00000352608:p.Thr3639Met		43710877	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979303	0.53827	0.0	1.16E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96913	-4.17;-4.17;-4.17	4.8	4.8	0.61643	.	0.000000	0.64402	U	0.000001	D	0.97704	0.9247	M	0.74258	2.255	0.46356	D	0.999007	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.67231	0.95;0.917;0.828	D	0.98262	1.0499	10	0.66056	D	0.02	.	16.7746	0.85548	0.0:1.0:0.0:0.0	.	3639;3634;3639	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	M	3639;3634;3639;559	ENSP00000352608:T3639M;ENSP00000347667:T3634M;ENSP00000354254:T3639M	ENSP00000347667:T3634M	T	+	2	0	RYR1	43710877	0.997000	0.39634	0.995000	0.50966	0.982000	0.71751	3.653000	0.54446	2.504000	0.84457	0.555000	0.69702	ACG		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39019037	C	T	39019037	3	4	289	1	0	0	0	0	1	0	0	0	13771	536	19	1	11210	1	RYR1	19	39019037	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08		39019037	20109946	46	15970											
TMC2	117532	broad.mit.edu	37	20	2605002	2605002	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr20:2605002G>A	ENST00000358864.1	+	17	2281	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	756					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.A756T(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTTTCCTCGCCAATCCAGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	20											171	127	142					20																	2605002		2203	4300	6503	2553002	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2266G>A	20.37:g.2605002G>A	ENSP00000351732:p.Ala756Thr		2553002	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301654	0.40694	.	.	ENSG00000149488	ENST00000358864	T	0.62941	-0.01	4.99	4.99	0.66335	.	0.162897	0.53938	D	0.000051	T	0.49864	0.1582	L	0.37630	1.12	0.40865	D	0.983868	B	0.30851	0.297	B	0.21708	0.036	T	0.48399	-0.9039	10	0.21014	T	0.42	-18.013	16.1587	0.81683	0.0:0.0:1.0:0.0	.	756	Q8TDI7	TMC2_HUMAN	T	756	ENSP00000351732:A756T	ENSP00000351732:A756T	A	+	1	0	TMC2	2553002	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.579000	0.60936	2.486000	0.83907	0.557000	0.71058	GCC		0.488	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			A	2605002	G	A	2605002	3	1	289	1	0	0	0	0	1	0	0	0	15985	1087	38	1	2332	1	TMC2	20	2605002	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08		2605002	60420518	47	15971											
OSBPL2	9885	broad.mit.edu	37	20	60847220	60847220	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr20:60847220C>T	ENST00000313733.3	+	5	500	c.298C>T	c.(298-300)Cct>Tct	p.P100S	OSBPL2_ENST00000439951.2_Missense_Mutation_p.P8S|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P88S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	100					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.P100S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CTTCAACGAGCCTCTGAGCTT	0.612																																																1	Substitution - Missense(1)	ovary(1)	20											113	87	96					20																	60847220		2203	4300	6503	60280615	SO:0001583	missense	9885			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"Oxysterol binding proteins"	15761	protein-coding gene	gene with protein product		606731	"oxysterol-binding protein-like 2"			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.298C>T	20.37:g.60847220C>T	ENSP00000316649:p.Pro100Ser		60280615	A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150513	0.78001	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951	T;T;T	0.56275	0.47;0.47;0.47	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87797	0.2622	10	0.87932	D	0	-18.3947	19.0302	0.92953	0.0:1.0:0.0:0.0	.	8;88;100	E7ET92;Q9H1P3-2;Q9H1P3	.;.;OSBL2_HUMAN	S	88;100;8	ENSP00000350755:P88S;ENSP00000316649:P100S;ENSP00000397602:P8S	ENSP00000316649:P100S	P	+	1	0	OSBPL2	60280615	1.000000	0.71417	0.997000	0.53966	0.246000	0.25737	7.597000	0.82733	2.659000	0.90383	0.561000	0.74099	CCT		0.612	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		T	60847220	C	T	60847220	3	4	289	1	0	0	0	0	1	0	0	0	11278	739	26	2	312	2	OSBPL2	20	60847220	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	58242218	60847220	2178300	48	15972											
ADRBK2	157	broad.mit.edu	37	22	26100154	26100154	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chr22:26100154C>T	ENST00000324198.6	+	15	1498	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	436	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.R436W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CGTTAGCAAGCGGCTGGGCTG	0.478																																																1	Substitution - Missense(1)	ovary(1)	22											73	72	72					22																	26100154		2203	4300	6503	24430154	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1306C>T	22.37:g.26100154C>T	ENSP00000317578:p.Arg436Trp		24430154	Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104666	0.37145	.	.	ENSG00000100077	ENST00000324198	T	0.72051	-0.62	5.75	3.64	0.41730	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	D	0.88433	0.6435	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.986	D	0.87780	0.2611	10	0.87932	D	0	-20.7452	7.3848	0.26876	0.3997:0.5234:0.0:0.0769	.	436;436	A8K869;P35626	.;ARBK2_HUMAN	W	436	ENSP00000317578:R436W	ENSP00000317578:R436W	R	+	1	2	ADRBK2	24430154	1.000000	0.71417	0.155000	0.22561	0.039000	0.13416	1.561000	0.36342	0.758000	0.33059	-0.136000	0.14681	CGG		0.478	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		T	26100154	C	T	26100154	3	4	289	1	0	0	0	0	1	0	0	0	344	759	27	1	1364	1	ADRBK2	22	26100154	Missense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08		26100154	25204412	49	15973											
MAGEB4	4115	broad.mit.edu	37	X	30261039	30261039	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chrX:30261039A>C	ENST00000378982.2	+	1	983	c.787A>C	c.(787-789)Agt>Cgt	p.S263R	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	263	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.S263R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GGTGCCCAACAGTGATCCCCC	0.493																																																1	Substitution - Missense(1)	ovary(1)	X											69	66	67					X																	30261039		2202	4300	6502	30170960	SO:0001583	missense	4115				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.787A>C	X.37:g.30261039A>C	ENSP00000368266:p.Ser263Arg		30170960	B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478432	0.44044	.	.	ENSG00000120289	ENST00000378982	T	0.05649	3.41	3.17	3.17	0.36434	.	0.145319	0.42964	U	0.000638	T	0.28830	0.0715	M	0.93375	3.41	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.10064	-1.0646	10	0.87932	D	0	.	7.1843	0.25791	1.0:0.0:0.0:0.0	.	263	O15481	MAGB4_HUMAN	R	263	ENSP00000368266:S263R	ENSP00000368266:S263R	S	+	1	0	MAGEB4	30170960	0.044000	0.20184	0.011000	0.14972	0.017000	0.09413	0.828000	0.27435	1.504000	0.48704	0.430000	0.28490	AGT		0.493	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		C	30261039	A	C	30261039	3	2	289	1	0	0	0	0	1	0	0	0	9178	188	7	5	789	5	MAGEB4	23	30261039	Missense_Mutation	SNP	A	TCGA-25-1319-01A-01W-0492-08		30261039	125009521	50	15974											
SPIN4	139886	broad.mit.edu	37	X	62570404	62570404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chrX:62570404C>A	ENST00000335144.3	-	1	814	c.295G>T	c.(295-297)Gag>Tag	p.E99*	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Nonsense_Mutation_p.E81*	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	99					gamete generation (GO:0007276)			p.E99*(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GGAAGGATCTCTAGCGCTAAA	0.473																																																1	Substitution - Nonsense(1)	ovary(1)	X											70	69	69					X																	62570404		2018	4171	6189	62487129	SO:0001587	stop_gained	139886			AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.295G>T	X.37:g.62570404C>A	ENSP00000334163:p.Glu99*		62487129	B3KX90|Q5JUL2	Nonsense_Mutation	SNP	ENST00000335144.3	37	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	.	42	9.309086	0.99132	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	.	.	.	4.73	4.73	0.59995	.	0.071187	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.4055	14.7469	0.69494	0.0:1.0:0.0:0.0	.	.	.	.	X	81;99	.	ENSP00000334163:E99X	E	-	1	0	SPIN4	62487129	1.000000	0.71417	0.950000	0.38849	0.992000	0.81027	6.206000	0.72154	2.283000	0.76528	0.544000	0.68410	GAG		0.473	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		A	62570404	C	A	62570404	4	1	289	1	0	0	0	0	0	1	0	0	15058	922	32	3	458	3	SPIN4	23	62570404	Nonsense_Mutation	SNP	C	TCGA-25-1319-01A-01W-0492-08	32309365	62570404	92700156	51	15975											
ARMCX1	51309	broad.mit.edu	37	X	100808226	100808226	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chrX:100808226G>C	ENST00000372829.3	+	4	684	c.313G>C	c.(313-315)Gag>Cag	p.E105Q		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	105						integral component of membrane (GO:0016021)		p.E105Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						AGGTGGCCTAGAGGCCAAGGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											69	63	65					X																	100808226		2203	4300	6503	100694882	SO:0001583	missense	51309			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.313G>C	X.37:g.100808226G>C	ENSP00000361917:p.Glu105Gln		100694882	Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	g	13.92	2.380354	0.42207	.	.	ENSG00000126947	ENST00000372829	T	0.40225	1.04	3.71	3.71	0.42584	.	.	.	.	.	T	0.45478	0.1344	N	0.24115	0.695	0.28271	N	0.924423	D	0.63880	0.993	D	0.70227	0.968	T	0.21314	-1.0249	9	0.25751	T	0.34	-16.0616	9.919	0.41453	0.0:0.0:1.0:0.0	.	105	Q9P291	ARMX1_HUMAN	Q	105	ENSP00000361917:E105Q	ENSP00000361917:E105Q	E	+	1	0	ARMCX1	100694882	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.785000	0.55424	2.091000	0.63221	0.556000	0.70494	GAG		0.572	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		C	100808226	G	C	100808226	3	2	289	1	0	0	0	0	1	0	0	0	959	943	33	3	315	3	ARMCX1	23	100808226	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	38237822	100808226	54462334	52	15976											
PLXNA3	55558	broad.mit.edu	37	X	153699459	153699459	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1319-01A-01W-0492-08	TCGA-25-1319-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	6647b8a8-58c2-4edc-aec2-3f559aaeb2ac	4e7cf06a-669f-4fa9-ade0-fae3de697e86	g.chrX:153699459G>A	ENST00000369682.3	+	31	5343	c.5168G>A	c.(5167-5169)cGc>cAc	p.R1723H		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1723					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.R1723H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCGCTGCGCTTCTGGGTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	X											88	78	82					X																	153699459		2203	4300	6503	153352653	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5168G>A	X.37:g.153699459G>A	ENSP00000358696:p.Arg1723His		153352653	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194168	0.94960	.	.	ENSG00000130827	ENST00000369682	T	0.26373	1.74	5.39	5.39	0.77823	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74380	-0.3684	10	0.87932	D	0	.	16.9192	0.86159	0.0:0.0:1.0:0.0	.	1723	P51805	PLXA3_HUMAN	H	1723	ENSP00000358696:R1723H	ENSP00000358696:R1723H	R	+	2	0	PLXNA3	153352653	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.860000	0.99555	2.257000	0.74773	0.529000	0.55759	CGC		0.602	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		A	153699459	G	A	153699459	3	1	289	1	0	0	0	0	1	0	0	0	12121	1087	38	1	5286	1	PLXNA3	23	153699459	Missense_Mutation	SNP	G	TCGA-25-1319-01A-01W-0492-08	52891233	153699459	1571101	53	15977											
TM2D1	83941	broad.mit.edu	37	1	62174999	62174999	+	Splice_Site	SNP	A	A	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:62174999A>C	ENST00000606498.1	-	3	368		c.e3+1		TM2D1_ENST00000472989.1_Splice_Site|TM2D1_ENST00000371180.2_Splice_Site|TM2D1_ENST00000294613.5_Splice_Site|TM2D1_ENST00000371177.2_Splice_Site			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						TAATGTACTTACACATTTCGG	0.358																																																0			1											75	71	72					1																	62174999		1839	4082	5921	61947587	SO:0001630	splice_region_variant	83941			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.347+1T>G	1.37:g.62174999A>C			61947587	A6NDA8	Splice_Site	SNP	ENST00000606498.1	37		.	.	.	.	.	.	.	.	.	.	A	18.43	3.621859	0.66787	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3315	0.66559	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TM2D1	61947587	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.512000	0.73737	2.226000	0.72624	0.482000	0.46254	.		0.358	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027	Intron	C	62174999	A	C	62174999	5	2	290	1	0	0	0	0	0	0	1	0	15963	405	14	5	290	5	TM2D1	1	62174999	Splice_Site	SNP	A	TCGA-25-1320-01A-01W-0492-08		62174999	187075622	1	15978											
VAV3	10451	broad.mit.edu	37	1	108311108	108311108	+	Silent	SNP	T	T	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:108311108T>C	ENST00000370056.4	-	7	946	c.672A>G	c.(670-672)agA>agG	p.R224R	VAV3_ENST00000371846.4_Silent_p.R159R|VAV3_ENST00000527011.1_Silent_p.R224R|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	224	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.R224R(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTGTCAGAAATCTTTTTAGTG	0.294																																																1	Substitution - coding silent(1)	ovary(1)	1											87	87	87					1																	108311108		2203	4296	6499	108112631	SO:0001819	synonymous_variant	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.672A>G	1.37:g.108311108T>C			108112631	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342568	0.24339	.	.	ENSG00000134215	ENST00000490388	.	.	.	5.47	1.93	0.25924	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	.	6.8715	0.24123	0.0:0.4768:0.0:0.5232	.	.	.	.	G	219	.	.	D	-	2	0	VAV3	108112631	0.988000	0.35896	1.000000	0.80357	0.979000	0.70002	0.105000	0.15333	0.373000	0.24621	0.379000	0.24179	GAT		0.294	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		C	108311108	T	C	108311108	2	2	290	1	0	0	0	0	0	0	0	1	17133	1432	50	4		4	VAV3	1	108311108	Silent	SNP	T	TCGA-25-1320-01A-01W-0492-08	46136109	108311108	140939513	2	15979											
GNAI3	2773	broad.mit.edu	37	1	110116390	110116390	+	Silent	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:110116390G>A	ENST00000369851.4	+	2	260	c.150G>A	c.(148-150)gtG>gtA	p.V50V		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	50					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V50V(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GCACCATTGTGAAACAGATGA	0.333																																																1	Substitution - coding silent(1)	ovary(1)	1											150	144	146					1																	110116390		2203	4300	6503	109917913	SO:0001819	synonymous_variant	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.150G>A	1.37:g.110116390G>A			109917913	P17539|Q5TZX1	Silent	SNP	ENST00000369851.4	37	CCDS802.1																																																																																				0.333	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		A	110116390	G	A	110116390	2	1	290	1	0	0	0	0	0	0	0	1	6506	1277	45	2		2	GNAI3	1	110116390	Silent	SNP	G	TCGA-25-1320-01A-01W-0492-08	1805282	110116390	139134231	3	15980											
SNX27	81609	broad.mit.edu	37	1	151641080	151641080	+	Missense_Mutation	SNP	A	A	G	rs149636067		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:151641080A>G	ENST00000458013.2	+	7	1238	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.N280S|SNX27_ENST00000368843.3_Missense_Mutation_p.N373S			Q96L92	SNX27_HUMAN	sorting nexin family member 27	373	FERM-like region F2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.N373S(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTAAATGACAATGACCTTGCT	0.363																																					Colon(46;291 966 40145 41237 41888)											1	Substitution - Missense(1)	ovary(1)	1						A	SER/ASN	0,4406		0,0,2203	80	78	79		1118	5.1	1	1	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNX27	NM_030918.5	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	373/529	151641080	1,13005	2203	4300	6503	149907704	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1118A>G	1.37:g.151641080A>G	ENSP00000400333:p.Asn373Ser		149907704	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	A	13.49	2.252180	0.39797	0.0	1.16E-4	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.49432	0.78;0.79;1.0	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.57536	1.79	0.58432	D	0.999998	B;B	0.23990	0.034;0.095	B;B	0.15484	0.006;0.013	T	0.10917	-1.0609	10	0.25106	T	0.35	.	13.853	0.63508	1.0:0.0:0.0:0.0	.	373;373	Q96L92;Q96L92-3	SNX27_HUMAN;.	S	373;373;280	ENSP00000400333:N373S;ENSP00000357836:N373S;ENSP00000357831:N280S	ENSP00000357831:N280S	N	+	2	0	SNX27	149907704	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.426000	0.90273	2.145000	0.66743	0.254000	0.18369	AAT		0.363	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		G	151641080	A	G	151641080	3	3	290	1	0	0	0	0	1	0	0	0	14900	101	4	4	1144	4	SNX27	1	151641080	Missense_Mutation	SNP	A	TCGA-25-1320-01A-01W-0492-08	41524690	151641080	97609541	4	15981											
RHBG	57127	broad.mit.edu	37	1	156348062	156348062	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:156348062C>A	ENST00000368249.1	+	4	583	c.545C>A	c.(544-546)tCc>tAc	p.S182Y	RHBG_ENST00000368246.2_Missense_Mutation_p.S182Y|RHBG_ENST00000451864.2_Missense_Mutation_p.S150Y|RHBG_ENST00000400992.2_Missense_Mutation_p.S150Y|RHBG_ENST00000255013.3_Missense_Mutation_p.S113Y|RHBG_ENST00000537040.1_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	182					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.S182Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCCGGAGGCTCCATGACTATC	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											70	77	75					1																	156348062		2055	4227	6282	154614686	SO:0001583	missense	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.545C>A	1.37:g.156348062C>A	ENSP00000357232:p.Ser182Tyr		154614686	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		.	.	.	.	.	.	.	.	.	.	C	20.3	3.965274	0.74131	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	4.68	4.68	0.58851	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	0.983;0.998;1.0	P;D;D	0.87578	0.9;0.961;0.998	T	0.75728	-0.3216	10	0.87932	D	0	-12.4595	16.3174	0.82932	0.0:1.0:0.0:0.0	.	182;150;219	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	Y	182;182;150;113;150	ENSP00000357232:S182Y;ENSP00000357229:S182Y;ENSP00000383777:S150Y;ENSP00000255013:S113Y;ENSP00000389836:S150Y	ENSP00000255013:S113Y	S	+	2	0	RHBG	154614686	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.462000	0.80851	2.415000	0.81967	0.511000	0.50034	TCC		0.662	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		A	156348062	C	A	156348062	3	1	290	1	0	0	0	0	1	0	0	0	13327	855	30	3	559	3	RHBG	1	156348062	Missense_Mutation	SNP	C	TCGA-25-1320-01A-01W-0492-08	4706982	156348062	92902559	5	15982											
IRF6	3664	broad.mit.edu	37	1	209968703	209968703	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:209968703T>C	ENST00000367021.3	-	5	612	c.440A>G	c.(439-441)gAa>gGa	p.E147G	IRF6_ENST00000542854.1_Missense_Mutation_p.E52G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	147					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E147G(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGCTCATCTTCCTCATCTTC	0.517										HNSCC(57;0.16)																																						1	Substitution - Missense(1)	ovary(1)	1											330	239	270					1																	209968703		2203	4300	6503	208035326	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.440A>G	1.37:g.209968703T>C	ENSP00000355988:p.Glu147Gly		208035326	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547585	0.45383	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.97959	-4.55;-4.06;-4.63	5.4	5.4	0.78164	.	0.516015	0.21408	N	0.075022	D	0.93939	0.8060	N	0.19112	0.55	0.80722	D	1	B	0.15719	0.014	B	0.15484	0.013	D	0.91328	0.5087	9	.	.	.	.	15.4348	0.75137	0.0:0.0:0.0:1.0	.	147	O14896	IRF6_HUMAN	G	147;52;147	ENSP00000355988:E147G;ENSP00000440532:E52G;ENSP00000403855:E147G	.	E	-	2	0	IRF6	208035326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.601000	0.67606	2.048000	0.60808	0.533000	0.62120	GAA		0.517	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		C	209968703	T	C	209968703	3	2	290	1	0	0	0	0	1	0	0	0	7834	1783	62	4	983	4	IRF6	1	209968703	Missense_Mutation	SNP	T	TCGA-25-1320-01A-01W-0492-08	53620641	209968703	39281918	6	15983											
SP100	6672	broad.mit.edu	37	2	231331929	231331929	+	Splice_Site	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr2:231331929G>A	ENST00000264052.5	+	13	1645	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K	SP100_ENST00000340126.4_Splice_Site_p.K430K|SP100_ENST00000409824.1_Splice_Site_p.K405K|SP100_ENST00000409112.1_Splice_Site_p.K430K|SP100_ENST00000409341.1_Splice_Site_p.K430K|SP100_ENST00000341950.4_Splice_Site_p.K430K|SP100_ENST00000427101.2_Intron|SP100_ENST00000409897.1_Splice_Site_p.K395K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	430	Sufficient to mediate interaction with ETS1.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.K430N(2)|p.K430K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGTGAGAAGGGTAAGAACA	0.557																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	lung(2)|ovary(1)	2											103	111	108					2																	231331929		2203	4300	6503	231040173	SO:0001630	splice_region_variant	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1291+1G>A	2.37:g.231331929G>A			231040173	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	1.063	-0.672144	0.03403	.	.	ENSG00000067066	ENST00000413284	.	.	.	3.78	-6.09	0.02145	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.20638	N	0.999872	.	.	.	.	.	.	T	0.22347	-1.0219	4	.	.	.	.	0.6459	0.00818	0.3665:0.1209:0.1624:0.3502	.	.	.	.	K	78	.	.	R	+	2	0	SP100	231040173	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	-1.030000	0.03581	-1.564000	0.01678	-0.493000	0.04662	AGG		0.557	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	Silent	A	231331929	G	A	231331929	5	1	290	1	0	0	0	0	0	0	1	0	14963	1014	35	2	1340	2	SP100	2	231331929	Splice_Site	SNP	G	TCGA-25-1320-01A-01W-0492-08		231331929	11867444	7	15984											
GIGYF2	26058	broad.mit.edu	37	2	233659580	233659580	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr2:233659580G>T	ENST00000409547.1	+	15	1716	c.1405G>T	c.(1405-1407)Gtt>Ttt	p.V469F	GIGYF2_ENST00000452341.2_Missense_Mutation_p.V300F|GIGYF2_ENST00000373563.4_Missense_Mutation_p.V469F|GIGYF2_ENST00000409480.1_Missense_Mutation_p.V491F|GIGYF2_ENST00000409451.3_Missense_Mutation_p.V490F|GIGYF2_ENST00000373566.3_Missense_Mutation_p.V491F|GIGYF2_ENST00000409196.3_Missense_Mutation_p.V463F	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	469	Pro-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.V469F(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAAACACCAGTTGTAGGTGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											240	241	241					2																	233659580		2203	4300	6503	233367824	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1405G>T	2.37:g.233659580G>T	ENSP00000386537:p.Val469Phe		233367824	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894942	0.33442	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.75367	-0.72;-0.73;-0.72;-0.73;-0.93;-0.72;-0.73;-0.88;-0.58	4.92	4.04	0.47022	.	0.285366	0.33057	N	0.005324	T	0.81536	0.4843	L	0.55481	1.735	0.09310	N	1	D;D;B;D	0.76494	0.999;0.997;0.145;0.998	D;P;B;P	0.68483	0.958;0.798;0.058;0.852	T	0.73613	-0.3927	10	0.51188	T	0.08	-5.2888	13.2994	0.60315	0.0772:0.0:0.9227:0.0	.	300;490;469;463	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	F	491;412;469;491;469;469;412;463;490;463;300	ENSP00000362667:V491F;ENSP00000362664:V469F;ENSP00000386765:V491F;ENSP00000386537:V469F;ENSP00000404195:V412F;ENSP00000387070:V463F;ENSP00000387170:V490F;ENSP00000410297:V463F;ENSP00000411505:V300F	ENSP00000362664:V469F	V	+	1	0	GIGYF2	233367824	0.990000	0.36364	0.005000	0.12908	0.566000	0.35808	4.753000	0.62183	1.205000	0.43262	0.563000	0.77884	GTT		0.473	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		T	233659580	G	T	233659580	3	4	290	1	0	0	0	0	1	0	0	0	6378	1029	36	3	1517	3	GIGYF2	2	233659580	Missense_Mutation	SNP	G	TCGA-25-1320-01A-01W-0492-08	2327651	233659580	9539793	8	15985											
PIGZ	80235	broad.mit.edu	37	3	196674486	196674486	+	Missense_Mutation	SNP	C	C	T	rs539732732		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr3:196674486C>T	ENST00000412723.1	-	3	1428	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	428					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.G428S(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGCAGGCAGCCGAAGAGGAGG	0.647													C|||	1	0.000199681	0	0	5008	,	,		19358	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3											41	39	40					3																	196674486		2203	4300	6503	198158883	SO:0001583	missense	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1282G>A	3.37:g.196674486C>T	ENSP00000413405:p.Gly428Ser		198158883	Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174788	0.78452	.	.	ENSG00000119227	ENST00000412723	T	0.64991	-0.13	5.0	5.0	0.66597	.	0.000000	0.53938	D	0.000048	D	0.82967	0.5152	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85763	0.1350	10	0.52906	T	0.07	-18.2499	17.6591	0.88187	0.0:1.0:0.0:0.0	.	428	Q86VD9	PIGZ_HUMAN	S	428	ENSP00000413405:G428S	ENSP00000413405:G428S	G	-	1	0	PIGZ	198158883	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	5.114000	0.64648	2.499000	0.84300	0.561000	0.74099	GGC		0.647	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		T	196674486	C	T	196674486	3	4	290	1	0	0	0	0	1	0	0	0	11905	652	23	1	461	1	PIGZ	3	196674486	Missense_Mutation	SNP	C	TCGA-25-1320-01A-01W-0492-08		196674486	1347944	9	15986											
ADAMTS16	170690	broad.mit.edu	37	5	5235235	5235235	+	Silent	SNP	C	C	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr5:5235235C>T	ENST00000274181.7	+	13	2097	c.1959C>T	c.(1957-1959)gcC>gcT	p.A653A	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	653	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A653A(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTCAGTGTGCCGAGCACAACA	0.522																																																4	Substitution - coding silent(4)	ovary(2)|lung(2)	5											76	80	78					5																	5235235		1955	4151	6106	5288235	SO:0001819	synonymous_variant	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1959C>T	5.37:g.5235235C>T			5288235	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																				0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5235235	C	T	5235235	2	4	290	1	0	0	0	0	0	0	0	1	261	639	23	1		1	ADAMTS16	5	5235235	Silent	SNP	C	TCGA-25-1320-01A-01W-0492-08		5235235	175680025	10	15987											
STC2	8614	broad.mit.edu	37	5	172744869	172744869	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr5:172744869T>A	ENST00000265087.4	-	4	2199	c.890A>T	c.(889-891)tAt>tTt	p.Y297F	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	297					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.Y297F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GATATCAGAATACTCAGACTG	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											85	90	88					5																	172744869		2203	4300	6503	172677475	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.890A>T	5.37:g.172744869T>A	ENSP00000265087:p.Tyr297Phe		172677475		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547452	0.45383	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.3	4.13	0.48395	.	0.362079	0.30752	N	0.008957	T	0.22820	0.0551	N	0.14661	0.345	0.25960	N	0.982634	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	9	0.14656	T	0.56	-13.0319	9.3871	0.38349	0.4484:0.0:0.0:0.5516	.	297	O76061	STC2_HUMAN	F	297	.	ENSP00000265087:Y297F	Y	-	2	0	STC2	172677475	1.000000	0.71417	0.988000	0.46212	0.951000	0.60555	3.353000	0.52247	0.830000	0.34757	0.528000	0.53228	TAT		0.532	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		A	172744869	T	A	172744869	3	1	290	1	0	0	0	0	1	0	0	0	15278	1406	49	5	22	5	STC2	5	172744869	Missense_Mutation	SNP	T	TCGA-25-1320-01A-01W-0492-08	167509634	172744869	8170391	11	15988											
PPP1R10	5514	broad.mit.edu	37	6	30572408	30572408	+	Silent	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr6:30572408G>A	ENST00000376511.2	-	12	1611	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	353					protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.G353G(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GAACCGGGGTGCCTGGACGGT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	6											273	291	285					6																	30572408		1511	2709	4220	30680387	SO:0001819	synonymous_variant	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1059C>T	6.37:g.30572408G>A			30680387	O00405	Silent	SNP	ENST00000376511.2	37	CCDS4681.1																																																																																				0.552	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		A	30572408	G	A	30572408	2	1	290	1	0	0	0	0	0	0	0	1	12355	1306	46	2		2	PPP1R10	6	30572408	Silent	SNP	G	TCGA-25-1320-01A-01W-0492-08		30572408	140542659	12	15989											
RARS2	57038	broad.mit.edu	37	6	88258335	88258335	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr6:88258335A>C	ENST00000369536.5	-	6	470	c.425T>G	c.(424-426)gTt>gGt	p.V142G		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	142					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.V142G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CAAATGTCCAACATGAAATTT	0.318																																																1	Substitution - Missense(1)	ovary(1)	6											73	70	71					6																	88258335		2203	4300	6503	88315054	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.425T>G	6.37:g.88258335A>C	ENSP00000358549:p.Val142Gly		88315054	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.59|17.59	3.427989|3.427989	0.62733|0.62733	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000451155|ENST00000369536;ENST00000369523	.|T	.|0.69806	.|-0.43	5.63|5.63	4.46|4.46	0.54185|0.54185	.|Aminoacyl-tRNA synthetase, class I, conserved site (1);Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	.|0.167697	.|0.52532	.|D	.|0.000070	T|T	0.77837|0.77837	0.4190|0.4190	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|P	.|0.49559	.|0.925	.|P	.|0.62649	.|0.905	T|T	0.81820|0.81820	-0.0757|-0.0757	5|10	.|0.87932	.|D	.|0	.|.	10.4176|10.4176	0.44331|0.44331	0.9218:0.0:0.0782:0.0|0.9218:0.0:0.0782:0.0	.|.	.|142	.|Q5T160	.|SYRM_HUMAN	V|G	170|142;169	.|ENSP00000358549:V142G	.|ENSP00000358536:V169G	L|V	-|-	1|2	2|0	RARS2|RARS2	88315054|88315054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.210000|4.210000	0.58500|0.58500	2.261000|2.261000	0.74972|0.74972	0.528000|0.528000	0.53228|0.53228	TTG|GTT		0.318	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		C	88258335	A	C	88258335	3	2	290	1	0	0	0	0	1	0	0	0	13062	43	2	5	1371	5	RARS2	6	88258335	Missense_Mutation	SNP	A	TCGA-25-1320-01A-01W-0492-08	57685927	88258335	82856732	13	15990											
BAZ1B	9031	broad.mit.edu	37	7	72891394	72891394	+	Silent	SNP	T	T	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr7:72891394T>C	ENST00000339594.4	-	7	2735	c.2397A>G	c.(2395-2397)aaA>aaG	p.K799K	BAZ1B_ENST00000404251.1_Silent_p.K799K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	799					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.K799K(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				cttccatttctttccgtttct	0.398																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											1	Substitution - coding silent(1)	ovary(1)	7											86	80	82					7																	72891394		2203	4300	6503	72529330	SO:0001819	synonymous_variant	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2397A>G	7.37:g.72891394T>C			72529330	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.398	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		C	72891394	T	C	72891394	2	2	290	1	0	0	0	0	0	0	0	1	1330	1606	56	4		4	BAZ1B	7	72891394	Silent	SNP	T	TCGA-25-1320-01A-01W-0492-08		72891394	86247269	14	15991											
YWHAG	7532	broad.mit.edu	37	7	75959469	75959469	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr7:75959469G>A	ENST00000307630.3	-	2	391	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	57		Interaction with phosphoserine on interacting protein.			apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)	p.R57C(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CAGGAAGAGCGGCGTGCCCCC	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											121	101	108					7																	75959469		2203	4300	6503	75797405	SO:0001583	missense	7532			AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170"	605356	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.169C>T	7.37:g.75959469G>A	ENSP00000306330:p.Arg57Cys		75797405	O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Missense_Mutation	SNP	ENST00000307630.3	37	CCDS5584.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091380	0.76756	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	T	0.76448	-1.02	5.97	5.08	0.68730	14-3-3 domain (4);	0.047908	0.85682	D	0.000000	D	0.91905	0.7437	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94487	0.7698	10	0.87932	D	0	-20.2272	16.2179	0.82239	0.0:0.1331:0.8669:0.0	.	57	P61981	1433G_HUMAN	C	57;35;57	ENSP00000306330:R57C	ENSP00000306330:R57C	R	-	1	0	YWHAG	75797405	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.838000	0.86804	1.504000	0.48704	0.650000	0.86243	CGC		0.527	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		A	75959469	G	A	75959469	3	1	290	1	0	0	0	0	1	0	0	0	17503	1116	39	1	578	1	YWHAG	7	75959469	Missense_Mutation	SNP	G	TCGA-25-1320-01A-01W-0492-08	3068075	75959469	83179194	15	15992											
MET	4233	broad.mit.edu	37	7	116339936	116339936	+	Missense_Mutation	SNP	G	G	C	rs185301166	byFrequency	TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr7:116339936G>C	ENST00000318493.6	+	2	985	c.798G>C	c.(796-798)agG>agC	p.R266S	MET_ENST00000397752.3_Missense_Mutation_p.R266S|MET_ENST00000436117.2_Missense_Mutation_p.R266S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R266S(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGGTCCAAAGGGAAACTCTAG	0.388			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	ovary(1)	7											153	146	148					7																	116339936		1845	4104	5949	116127172	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.798G>C	7.37:g.116339936G>C	ENSP00000317272:p.Arg266Ser		116127172	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086439	0.36855	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11169	2.8;2.8;2.8	6.07	0.637	0.17735	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.312054	0.35151	N	0.003404	T	0.26593	0.0650	M	0.74647	2.275	0.80722	D	1	P;P;P;P;P;P;P;P;D;B;P;B;B	0.61697	0.565;0.732;0.874;0.874;0.874;0.732;0.874;0.874;0.99;0.259;0.732;0.181;0.181	B;P;P;P;P;P;P;P;D;B;P;B;B	0.74674	0.305;0.794;0.794;0.794;0.794;0.794;0.864;0.794;0.984;0.301;0.794;0.287;0.287	T	0.01015	-1.1480	10	0.66056	D	0.02	.	8.1458	0.31110	0.6887:0.0:0.3113:0.0	.	266;266;266;266;266;266;266;266;266;266;266;266;266	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	S	266	ENSP00000380860:R266S;ENSP00000317272:R266S;ENSP00000410980:R266S	ENSP00000317272:R266S	R	+	3	2	MET	116127172	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	0.766000	0.26560	0.167000	0.19631	0.655000	0.94253	AGG		0.388	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116339936	G	C	116339936	3	2	290	1	0	0	0	0	1	0	0	0	9485	1223	43	3	800	3	MET	7	116339936	Missense_Mutation	SNP	G	TCGA-25-1320-01A-01W-0492-08	40380467	116339936	42798727	16	15993											
CYP7B1	9420	broad.mit.edu	37	8	65527670	65527670	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr8:65527670G>T	ENST00000310193.3	-	4	1143	c.970C>A	c.(970-972)Cgt>Agt	p.R324S	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	324				R -> H (in Ref. 1; AAC95426). {ECO:0000305}.	bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.R324S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCAGCAAACGGTCAATTTCG	0.468																																																1	Substitution - Missense(1)	ovary(1)	8											113	105	108					8																	65527670		2203	4300	6503	65690224	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.970C>A	8.37:g.65527670G>T	ENSP00000310721:p.Arg324Ser		65690224	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	G	4.628	0.116706	0.08881	.	.	ENSG00000172817	ENST00000310193	T	0.69040	-0.37	5.93	4.11	0.48088	.	0.617158	0.19131	N	0.121927	T	0.38054	0.1026	N	0.03891	-0.335	0.24453	N	0.994473	B	0.19817	0.039	B	0.20955	0.032	T	0.21381	-1.0247	10	0.06099	T	0.92	-19.8849	10.8751	0.46906	0.0672:0.0:0.7986:0.1342	.	324	O75881	CP7B1_HUMAN	S	324	ENSP00000310721:R324S	ENSP00000310721:R324S	R	-	1	0	CYP7B1	65690224	1.000000	0.71417	0.931000	0.37212	0.997000	0.91878	2.186000	0.42593	0.815000	0.34398	0.655000	0.94253	CGT		0.468	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			T	65527670	G	T	65527670	3	4	290	1	0	0	0	0	1	0	0	0	4197	1116	39	3	562	3	CYP7B1	8	65527670	Missense_Mutation	SNP	G	TCGA-25-1320-01A-01W-0492-08		65527670	80836352	17	15994											
A2ML1	144568	broad.mit.edu	37	12	9020925	9020925	+	Nonsense_Mutation	SNP	C	C	T	rs374267852		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr12:9020925C>T	ENST00000299698.7	+	31	4213	c.4033C>T	c.(4033-4035)Cga>Tga	p.R1345*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.R854*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.R1345*(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GACTTCACCTCGATCCTTGAC	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	12						C	stop/ARG	0,3940		0,0,1970	159	156	157		4033	0.5	0.2	12		157	1,8321		0,1,4160	no	stop-gained	A2ML1	NM_144670.3		0,1,6130	TT,TC,CC		0.012,0.0,0.0082		1345/1455	9020925	1,12261	1970	4161	6131	8912192	SO:0001587	stop_gained	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.4033C>T	12.37:g.9020925C>T	ENSP00000299698:p.Arg1345*		8912192		Nonsense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	40	8.231816	0.98717	0.0	1.2E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.69	0.518	0.17030	.	4.993110	0.00691	N	0.000724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	6.3487	0.21363	0.3686:0.3182:0.3132:0.0	.	.	.	.	X	1345;1345;895;854	.	ENSP00000299698:R1345X	R	+	1	2	A2ML1	8912192	0.000000	0.05858	0.232000	0.24009	0.127000	0.20565	0.265000	0.18515	0.098000	0.17522	0.561000	0.74099	CGA		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		T	9020925	C	T	9020925	4	4	290	1	0	0	0	0	0	1	0	0	5	876	31	1	4155	1	A2ML1	12	9020925	Nonsense_Mutation	SNP	C	TCGA-25-1320-01A-01W-0492-08		9020925	124830970	18	15995											
LRRK2	120892	broad.mit.edu	37	12	40668477	40668477	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr12:40668477A>C	ENST00000298910.7	+	15	1807	c.1749A>C	c.(1747-1749)gaA>gaC	p.E583D	LRRK2_ENST00000343742.2_Missense_Mutation_p.E583D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	583					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E583D(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TATCCCTGGAAGGTGCTATGG	0.363																																																2	Substitution - Missense(2)	ovary(2)	12											151	149	150					12																	40668477		2203	4300	6503	38954744	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1749A>C	12.37:g.40668477A>C	ENSP00000298910:p.Glu583Asp		38954744	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.579276	0.46006	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.65364	-0.15;1.18;1.18	5.97	-1.22	0.09494	Armadillo-like helical (1);Armadillo-type fold (1);	0.163970	0.56097	D	0.000036	T	0.35158	0.0922	N	0.14661	0.345	0.22835	N	0.998679	B;B	0.21309	0.003;0.054	B;B	0.21360	0.002;0.034	T	0.09465	-1.0673	10	0.33940	T	0.23	.	4.1581	0.10270	0.4765:0.0:0.3018:0.2217	.	583;583	E9PC85;Q5S007	.;LRRK2_HUMAN	D	331;583;583	ENSP00000398726:E331D;ENSP00000341930:E583D;ENSP00000298910:E583D	ENSP00000298910:E583D	E	+	3	2	LRRK2	38954744	1.000000	0.71417	0.996000	0.52242	0.658000	0.38924	0.891000	0.28309	-0.196000	0.10366	0.477000	0.44152	GAA		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		C	40668477	A	C	40668477	3	2	290	1	0	0	0	0	1	0	0	0	9033	69	3	5	1807	5	LRRK2	12	40668477	Missense_Mutation	SNP	A	TCGA-25-1320-01A-01W-0492-08	31647552	40668477	93183418	19	15996											
ADAMTS20	80070	broad.mit.edu	37	12	43824219	43824219	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr12:43824219T>A	ENST00000389420.3	-	23	3316	c.3317A>T	c.(3316-3318)gAg>gTg	p.E1106V	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E260V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1106V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1106	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1106V(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTAGCTAGCTCATTGACACA	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											153	131	138					12																	43824219		2203	4300	6503	42110486	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3317A>T	12.37:g.43824219T>A	ENSP00000374071:p.Glu1106Val		42110486	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	t	15.65	2.895929	0.52121	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.3	2.79	0.32731	.	0.553881	0.16200	N	0.224952	T	0.35508	0.0934	N	0.21097	0.63	0.26810	N	0.969027	P;P	0.50528	0.664;0.936	B;P	0.45712	0.326;0.491	T	0.09015	-1.0694	10	0.21540	T	0.41	.	4.4793	0.11759	0.0:0.2073:0.1706:0.6221	.	1106;260	P59510;E9PBD5	ATS20_HUMAN;.	V	1106;272;260;1106;1106	ENSP00000374071:E1106V;ENSP00000447427:E272V;ENSP00000378911:E260V;ENSP00000448341:E1106V	ENSP00000374068:E1106V	E	-	2	0	ADAMTS20	42110486	0.996000	0.38824	0.470000	0.27216	0.060000	0.15804	3.585000	0.53943	1.113000	0.41760	0.454000	0.30748	GAG		0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43824219	T	A	43824219	3	1	290	1	0	0	0	0	1	0	0	0	266	1551	54	5	2482	5	ADAMTS20	12	43824219	Missense_Mutation	SNP	T	TCGA-25-1320-01A-01W-0492-08	3155742	43824219	90027676	20	15997											
TRPC4	7223	broad.mit.edu	37	13	38225457	38225457	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr13:38225457G>A	ENST00000379705.3	-	8	2881	c.2024C>T	c.(2023-2025)aCa>aTa	p.T675I	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.T675I|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.T675I|TRPC4_ENST00000379679.1_Missense_Mutation_p.T502I|TRPC4_ENST00000355779.2_Missense_Mutation_p.T675I|TRPC4_ENST00000379681.3_Missense_Mutation_p.T675I|TRPC4_ENST00000338947.5_Missense_Mutation_p.T502I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	675	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.T675I(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCACAAGTGTGTCCAGATCCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	13											136	133	134					13																	38225457		2203	4300	6503	37123457	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2024C>T	13.37:g.38225457G>A	ENSP00000369027:p.Thr675Ile		37123457	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095181	0.36952	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.7	4.8	0.61643	.	0.360627	0.34411	N	0.003998	T	0.63628	0.2527	N	0.02916	-0.46	0.80722	D	1	B;B;B;B;B	0.22983	0.017;0.078;0.043;0.043;0.025	B;B;B;B;B	0.29077	0.037;0.022;0.098;0.037;0.017	T	0.61535	-0.7043	10	0.35671	T	0.21	-27.888	9.3542	0.38157	0.0:0.2472:0.6265:0.1264	.	675;675;502;675;675	Q9UBN4-3;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	I	675;675;502;502;675;675;675	ENSP00000369027:T675I;ENSP00000369003:T675I;ENSP00000342580:T502I;ENSP00000369001:T502I;ENSP00000348025:T675I;ENSP00000351264:T675I;ENSP00000414316:T675I	ENSP00000342580:T502I	T	-	2	0	TRPC4	37123457	0.871000	0.30034	0.998000	0.56505	0.993000	0.82548	1.371000	0.34250	2.701000	0.92244	0.561000	0.74099	ACA		0.403	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		A	38225457	G	A	38225457	3	1	290	1	0	0	0	0	1	0	0	0	16580	1377	48	2	940	2	TRPC4	13	38225457	Missense_Mutation	SNP	G	TCGA-25-1320-01A-01W-0492-08		38225457	76944421	21	15998											
C15orf2	23742	broad.mit.edu	37	15	24921536	24921536	+	Silent	SNP	C	C	T	rs368120585		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr15:24921536C>T	ENST00000329468.2	+	1	996	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	174					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D174D(2)									GGGAGGATGACGAGAAAAGGA	0.622																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	15						C		1,4405		0,1,2202	48	41	43		522	-5.4	0	15		43	0,8600		0,0,4300	no	coding-synonymous	C15orf2	NM_018958.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		174/1157	24921536	1,13005	2203	4300	6503	22472629	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.522C>T	15.37:g.24921536C>T			22472629		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																				0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		T	24921536	C	T	24921536	2	4	290	1	0	0	0	0	0	0	0	1	1784	535	19	1		1	C15orf2	15	24921536	Silent	SNP	C	TCGA-25-1320-01A-01W-0492-08		24921536	77609856	22	15999											
KIAA1199	57214	broad.mit.edu	37	15	81173442	81173442	+	Silent	SNP	C	C	T	rs146635298	byFrequency	TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr15:81173442C>T	ENST00000394685.3	+	6	1001	c.582C>T	c.(580-582)atC>atT	p.I194I	KIAA1199_ENST00000220244.3_Silent_p.I194I|KIAA1199_ENST00000356249.5_Silent_p.I194I			Q8WUJ3	CEMIP_HUMAN		194					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.I194I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCATGTCATCGACCCCAAAT	0.468													C|||	5	0.000998403	8e-04	0.0043	5008	,	,		21618	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	15						C		10,4396	16.8+/-37.8	0,10,2193	188	170	176		582	-2.4	1	15	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	KIAA1199	NM_018689.1		0,10,6493	TT,TC,CC		0.0,0.227,0.0769		194/1362	81173442	10,12996	2203	4300	6503	78960497	SO:0001819	synonymous_variant	57214																														ENST00000394685.3:c.582C>T	15.37:g.81173442C>T			78960497	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																				0.468	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			T	81173442	C	T	81173442	2	4	290	1	0	0	0	0	0	0	0	1	8213	874	31	1		1	KIAA1199	15	81173442	Silent	SNP	C	TCGA-25-1320-01A-01W-0492-08	56251906	81173442	21357950	23	16000											
BNC1	646	broad.mit.edu	37	15	83932792	83932792	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr15:83932792C>T	ENST00000345382.2	-	4	1296	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R397H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	404					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R404H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGCGCTATGGCGATTCCGGCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											170	159	163					15																	83932792		2203	4300	6503	81723796	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1211G>A	15.37:g.83932792C>T	ENSP00000307041:p.Arg404His		81723796	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745100	0.89663	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.30981	1.51	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.65261	-0.6211	10	0.87932	D	0	-33.1899	19.4213	0.94723	0.0:1.0:0.0:0.0	.	397;404	F5GY04;Q01954	.;BNC1_HUMAN	H	404;397	ENSP00000307041:R404H	ENSP00000307041:R404H	R	-	2	0	BNC1	81723796	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.755000	0.85180	2.589000	0.87451	0.655000	0.94253	CGC		0.527	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		T	83932792	C	T	83932792	3	4	290	1	0	0	0	0	1	0	0	0	1474	768	27	1	1781	1	BNC1	15	83932792	Missense_Mutation	SNP	C	TCGA-25-1320-01A-01W-0492-08	2759350	83932792	18598600	24	16001											
TSC2	7249	broad.mit.edu	37	16	2129153	2129153	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr16:2129153G>T	ENST00000219476.3	+	27	3717	c.3087G>T	c.(3085-3087)atG>atT	p.M1029I	TSC2_ENST00000353929.4_Missense_Mutation_p.M986I|TSC2_ENST00000401874.2_Missense_Mutation_p.M985I|TSC2_ENST00000568454.1_Missense_Mutation_p.M996I|TSC2_ENST00000382538.6_Missense_Mutation_p.M937I|TSC2_ENST00000439673.2_Missense_Mutation_p.M949I|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Missense_Mutation_p.M1029I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1029					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.M1029I(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTCTGGACATGATGGCTCGAT	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	2	Substitution - Missense(2)	ovary(2)	16											124	99	108					16																	2129153		2198	4300	6498	2069154	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3087G>T	16.37:g.2129153G>T	ENSP00000219476:p.Met1029Ile		2069154	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211231	0.95069	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.91686	-2.63;-2.89;-2.62;-2.68;-2.65;-2.6	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.95370	0.8497	M	0.61703	1.905	0.80722	D	1	D;P;D;P;D;P	0.56521	0.964;0.93;0.976;0.956;0.975;0.74	D;P;D;D;D;P	0.73380	0.968;0.835;0.92;0.98;0.974;0.577	D	0.95495	0.8572	10	0.59425	D	0.04	-47.9348	18.5973	0.91234	0.0:0.0:1.0:0.0	.	937;949;1029;985;985;1029	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	I	1029;986;986;949;937;1029	ENSP00000219476:M1029I;ENSP00000384468:M986I;ENSP00000248099:M986I;ENSP00000399232:M949I;ENSP00000371978:M937I;ENSP00000344383:M1029I	ENSP00000219476:M1029I	M	+	3	0	TSC2	2069154	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.787000	0.99055	2.389000	0.81357	0.655000	0.94253	ATG		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		T	2129153	G	T	2129153	3	4	290	1	0	0	0	0	1	0	0	0	16606	1290	45	3	3189	3	TSC2	16	2129153	Missense_Mutation	SNP	G	TCGA-25-1320-01A-01W-0492-08		2129153	88225600	25	16002											
TP53	7157	broad.mit.edu	37	17	7579315	7579315	+	Frame_Shift_Del	DEL	G	G	-			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	-	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr17:7579315delG	ENST00000269305.4	-	4	561	c.372delC	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C124fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C124fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.C124fs	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	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.P13fs*18(1)|p.S33fs*23(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)	AACTGACCGTGCAAGTCACAG	0.547		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"	21	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)	17											66	61	63					17																	7579315		2203	4300	6503	7520040	SO:0001589	frameshift_variant	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.372delC	17.37:g.7579315delG	ENSP00000269305:p.Cys124fs		7520040	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579315	G	-	7579315	7	5	290	1	0	1	0	1	0	0	0	0	16381	1311	46	0	930	0	TP53	17	7579315	Frame_Shift_Del	DEL	G	TCGA-25-1320-01A-01W-0492-08		7579315	73615895	26	16003											
SCN4A	6329	broad.mit.edu	37	17	62024486	62024486	+	Silent	SNP	C	C	T	rs377187913		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr17:62024486C>T	ENST00000435607.1	-	18	3436	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	SCN4A_ENST00000578147.1_Silent_p.S1120S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1120					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S1120S(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCCCAGCTCCGAGTAGCCCA	0.667											OREG0024655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	17						C		1,4159		0,1,2079	60	70	67		3360	-6.2	1	17		67	1,8403		0,1,4201	no	coding-synonymous	SCN4A	NM_000334.4		0,2,6280	TT,TC,CC		0.0119,0.024,0.0159		1120/1837	62024486	2,12562	2080	4202	6282	59378218	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3360G>A	17.37:g.62024486C>T		1058	59378218	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																				0.667	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62024486	C	T	62024486	2	4	290	1	0	0	0	0	0	0	0	1	13923	639	23	1		1	SCN4A	17	62024486	Silent	SNP	C	TCGA-25-1320-01A-01W-0492-08	54445171	62024486	19170724	27	16004											
CNDP2	55748	broad.mit.edu	37	18	72183571	72183571	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr18:72183571G>A	ENST00000324262.4	+	9	1328	c.1012G>A	c.(1012-1014)Ggc>Agc	p.G338S	CNDP2_ENST00000579847.1_Missense_Mutation_p.G338S|CNDP2_ENST00000324301.8_Missense_Mutation_p.G254S	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	338					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.G338S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GAAGGTGGTTGGCAAGTTCTC	0.627																																																1	Substitution - Missense(1)	ovary(1)	18											122	94	104					18																	72183571		2203	4300	6503	70334551	SO:0001583	missense	55748			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1012G>A	18.37:g.72183571G>A	ENSP00000325548:p.Gly338Ser		70334551	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283965	0.80803	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.56776	0.44;0.44	5.44	5.44	0.79542	Peptidase M20, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.82623	-0.0366	10	0.87932	D	0	7.4759	19.2585	0.93957	0.0:0.0:1.0:0.0	.	254;338	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	S	338;254	ENSP00000325548:G338S;ENSP00000325756:G254S	ENSP00000325548:G338S	G	+	1	0	CNDP2	70334551	1.000000	0.71417	0.954000	0.39281	0.034000	0.12701	9.756000	0.98918	2.552000	0.86080	0.591000	0.81541	GGC		0.627	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		A	72183571	G	A	72183571	3	1	290	1	0	0	0	0	1	0	0	0	3594	1348	47	2	1042	2	CNDP2	18	72183571	Missense_Mutation	SNP	G	TCGA-25-1320-01A-01W-0492-08		72183571	5893677	28	16005											
RDH8	50700	broad.mit.edu	37	19	10132084	10132084	+	Silent	SNP	C	C	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr19:10132084C>T	ENST00000171214.1	+	5	939	c.690C>T	c.(688-690)tcC>tcT	p.S230S	RDH8_ENST00000591589.1_Silent_p.S250S	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	230					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.S230S(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGTTTTGCTCCGTGGGACAGA	0.617																																																1	Substitution - coding silent(1)	ovary(1)	19											75	73	74					19																	10132084		2203	4300	6503	9993084	SO:0001819	synonymous_variant	50700			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.690C>T	19.37:g.10132084C>T			9993084	Q9H838	Silent	SNP	ENST00000171214.1	37																																																																																					0.617	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	10132084	C	T	10132084	2	4	290	1	0	0	0	0	0	0	0	1	13199	639	23	1		1	RDH8	19	10132084	Silent	SNP	C	TCGA-25-1320-01A-01W-0492-08		10132084	48996899	29	16006											
NCAN	1463	broad.mit.edu	37	19	19339041	19339041	+	Missense_Mutation	SNP	C	C	T	rs145824706		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr19:19339041C>T	ENST00000252575.6	+	8	2711	c.2612C>T	c.(2611-2613)aCg>aTg	p.T871M	NCAN_ENST00000538881.1_Missense_Mutation_p.T322M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	871					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.T871M(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGCATTGTGACGCCCCTCACG	0.577																																																1	Substitution - Missense(1)	ovary(1)	19						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	85	89	87		2612	-3.8	0	19	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	NCAN	NM_004386.2	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	871/1322	19339041	2,13004	2203	4300	6503	19200041	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2612C>T	19.37:g.19339041C>T	ENSP00000252575:p.Thr871Met		19200041	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	8.787	0.929745	0.18131	2.27E-4	1.16E-4	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.88586	-2.1;-2.4	4.08	-3.77	0.04346	.	0.767725	0.11094	N	0.600387	T	0.70570	0.3239	N	0.14661	0.345	0.09310	N	1	B;B	0.34181	0.44;0.27	B;B	0.20955	0.032;0.016	T	0.60372	-0.7276	10	0.33141	T	0.24	.	5.2882	0.15712	0.0:0.304:0.1592:0.5368	.	885;871	Q4LE67;O14594	.;NCAN_HUMAN	M	885;871;322	ENSP00000252575:T871M;ENSP00000442202:T322M	ENSP00000252575:T871M	T	+	2	0	NCAN	19200041	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.423000	0.07034	-0.551000	0.06175	-0.339000	0.08088	ACG		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		T	19339041	C	T	19339041	3	4	290	1	0	0	0	0	1	0	0	0	10204	536	19	1	2638	1	NCAN	19	19339041	Missense_Mutation	SNP	C	TCGA-25-1320-01A-01W-0492-08	9206957	19339041	39789942	30	16007											
ZNF536	9745	broad.mit.edu	37	19	30936480	30936480	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr19:30936480C>T	ENST00000355537.3	+	2	2158	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	671					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R671W(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGGATGAGCGGCGTGGCTC	0.697																																																1	Substitution - Missense(1)	ovary(1)	19											38	42	40					19																	30936480		2203	4298	6501	35628320	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2011C>T	19.37:g.30936480C>T	ENSP00000347730:p.Arg671Trp		35628320	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928854	0.52759	.	.	ENSG00000198597	ENST00000355537	T	0.11277	2.79	5.42	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	N	0.24115	0.695	0.48901	D	0.999728	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.02391	-1.1166	10	0.87932	D	0	-32.6045	14.7741	0.69703	0.5321:0.4679:0.0:0.0	.	671;671	A7E228;O15090	.;ZN536_HUMAN	W	671	ENSP00000347730:R671W	ENSP00000347730:R671W	R	+	1	2	ZNF536	35628320	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	1.792000	0.38754	0.566000	0.29273	0.655000	0.94253	CGG		0.697	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	30936480	C	T	30936480	3	4	290	1	0	0	0	0	1	0	0	0	17974	759	27	1	2013	1	ZNF536	19	30936480	Missense_Mutation	SNP	C	TCGA-25-1320-01A-01W-0492-08	11597439	30936480	28192503	31	16008											
KIAA0406	9675	broad.mit.edu	37	20	36641782	36641782	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr20:36641782G>C	ENST00000373448.2	-	3	675	c.437C>G	c.(436-438)tCc>tGc	p.S146C	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.S146C|TTI1_ENST00000373447.3_Missense_Mutation_p.S146C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	146					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.S146C(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGGCAGAATGGAGGGCTCATA	0.428																																																1	Substitution - Missense(1)	ovary(1)	20											80	79	80					20																	36641782		2203	4300	6503	36075196	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.437C>G	20.37:g.36641782G>C	ENSP00000362547:p.Ser146Cys		36075196	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	7.836	0.720803	0.15372	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.67523	-0.27;-0.27;-0.27	5.35	3.3	0.37823	Armadillo-type fold (1);	0.637433	0.17507	N	0.171774	T	0.58736	0.2143	L	0.38838	1.175	0.41784	D	0.989836	B	0.06786	0.001	B	0.08055	0.003	T	0.59825	-0.7381	10	0.54805	T	0.06	-21.3948	16.4489	0.83973	0.0:0.2609:0.7391:0.0	.	146	O43156	TTI1_HUMAN	C	146	ENSP00000362547:S146C;ENSP00000362546:S146C;ENSP00000407270:S146C	ENSP00000362546:S146C	S	-	2	0	TTI1	36075196	0.960000	0.32886	1.000000	0.80357	0.987000	0.75469	2.143000	0.42187	1.479000	0.48272	0.555000	0.69702	TCC		0.428	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		C	36641782	G	C	36641782	3	2	290	1	0	0	0	0	1	0	0	0	8173	1174	41	3	2860	3	KIAA0406	20	36641782	Missense_Mutation	SNP	G	TCGA-25-1320-01A-01W-0492-08		36641782	26383738	32	16009											
ZNF648	127665	broad.mit.edu	37	1	182027051	182027051	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr1:182027051T>C	ENST00000339948.3	-	2	302	c.95A>G	c.(94-96)aAc>aGc	p.N32S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N32S(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ACTCTCTAAGTTCATGCTCAG	0.567																																					NSCLC(71;908 1374 5429 20458 35642)											1	Substitution - Missense(1)	ovary(1)	1											95	88	90					1																	182027051		2203	4300	6503	180293674	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.95A>G	1.37:g.182027051T>C	ENSP00000344129:p.Asn32Ser		180293674	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	T	4.937	0.174090	0.09391	.	.	ENSG00000179930	ENST00000339948	T	0.08984	3.03	2.76	-1.46	0.08800	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.47209	-0.9135	9	0.15499	T	0.54	.	3.9149	0.09219	0.0:0.2548:0.185:0.5602	.	32	Q5T619	ZN648_HUMAN	S	32	ENSP00000344129:N32S	ENSP00000344129:N32S	N	-	2	0	ZNF648	180293674	0.000000	0.05858	0.010000	0.14722	0.020000	0.10135	0.530000	0.23036	-0.300000	0.08895	-0.316000	0.08728	AAC		0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		C	182027051	T	C	182027051	3	2	291	1	0	0	0	0	1	0	0	0	18063	1725	60	4	1615	4	ZNF648	1	182027051	Missense_Mutation	SNP	T	TCGA-25-1321-01A-01W-0492-08		182027051	67223570	1	16010											
CCT4	10575	broad.mit.edu	37	2	62099331	62099331	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr2:62099331C>A	ENST00000394440.3	-	12	1673	c.1377G>T	c.(1375-1377)gaG>gaT	p.E459D	CCT4_ENST00000544185.1_Missense_Mutation_p.E309D|CCT4_ENST00000544079.1_Missense_Mutation_p.E429D|CCT4_ENST00000538252.1_Missense_Mutation_p.E403D|CCT4_ENST00000461540.2_Intron|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	459					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.E459D(1)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATGGAATGACCTCCATAGCAT	0.463																																																1	Substitution - Missense(1)	ovary(1)	2											108	101	103					2																	62099331		2203	4300	6503	61952835	SO:0001583	missense	10575				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1377G>T	2.37:g.62099331C>A	ENSP00000377958:p.Glu459Asp		61952835	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288941	0.80914	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.59	-7.33	0.01431	.	0.000000	0.85682	D	0.000000	D	0.88753	0.6522	M	0.88377	2.95	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89914	0.4054	10	0.72032	D	0.01	-19.2426	17.2907	0.87156	0.0:0.6138:0.0:0.3862	.	429;459	F5H5W3;P50991	.;TCPD_HUMAN	D	459;429;309;403	ENSP00000377958:E459D;ENSP00000443061:E429D;ENSP00000443451:E309D;ENSP00000442174:E403D	ENSP00000377958:E459D	E	-	3	2	CCT4	61952835	0.965000	0.33210	0.748000	0.31131	0.998000	0.95712	0.108000	0.15396	-1.559000	0.01688	0.655000	0.94253	GAG		0.463	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			A	62099331	C	A	62099331	3	1	291	1	0	0	0	0	1	0	0	0	2955	680	24	3	254	3	CCT4	2	62099331	Missense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08		62099331	181100042	2	16011											
IL1RL1	9173	broad.mit.edu	37	2	102958715	102958715	+	Missense_Mutation	SNP	G	G	A	rs75320001	byFrequency	TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr2:102958715G>A	ENST00000233954.1	+	6	914	c.643G>A	c.(643-645)Gga>Aga	p.G215R	IL1RL1_ENST00000409584.1_Missense_Mutation_p.G215R|IL1RL1_ENST00000404917.2_Missense_Mutation_p.G98R|IL1RL1_ENST00000311734.2_Missense_Mutation_p.G215R	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	215	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.G215R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCAGTAATCGGAGCCCCTGC	0.338													g|||	11	0.00219649	0	0	5008	,	,		16855	0.0109		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	2											92	96	94					2																	102958715		2202	4300	6502	102325147	SO:0001583	missense	9173			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.643G>A	2.37:g.102958715G>A	ENSP00000233954:p.Gly215Arg		102325147	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	g	0.547	-0.851194	0.02651	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.13538	4.12;4.12;4.12;2.58	4.46	-1.28	0.09318	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.666150	0.02689	N	0.110471	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.26849	-1.0091	10	0.38643	T	0.18	.	0.9797	0.01433	0.4173:0.1659:0.0955:0.3213	.	98;215;215	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	R	215;98;215;215	ENSP00000233954:G215R;ENSP00000384822:G98R;ENSP00000310371:G215R;ENSP00000386618:G215R	ENSP00000233954:G215R	G	+	1	0	IL1RL1	102325147	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	-0.235000	0.09016	-0.396000	0.07703	-0.430000	0.05897	GGA		0.338	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		A	102958715	G	A	102958715	3	1	291	1	0	0	0	0	1	0	0	0	7663	1117	39	1	661	1	IL1RL1	2	102958715	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08	40859384	102958715	140240658	3	16012											
MAP2	4133	broad.mit.edu	37	2	210559155	210559155	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr2:210559155A>G	ENST00000360351.4	+	7	2767	c.2261A>G	c.(2260-2262)gAg>gGg	p.E754G	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E750G	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	754					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E754G(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCTGCACTGGAGAAAGCCCCT	0.458																																					Pancreas(27;423 979 28787 29963)											1	Substitution - Missense(1)	ovary(1)	2											67	67	67					2																	210559155		2203	4300	6503	210267400	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2261A>G	2.37:g.210559155A>G	ENSP00000353508:p.Glu754Gly		210267400	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439385	0.43326	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25912	1.77;1.77	5.96	5.96	0.96718	MAP2/Tau projection (1);	0.180887	0.39020	N	0.001483	T	0.39036	0.1063	L	0.55481	1.735	0.58432	D	0.999991	D;D	0.56968	0.973;0.978	P;P	0.51974	0.559;0.686	T	0.18116	-1.0347	10	0.87932	D	0	-9.0279	16.4343	0.83869	1.0:0.0:0.0:0.0	.	750;754	P11137-3;P11137	.;MAP2_HUMAN	G	754;750	ENSP00000353508:E754G;ENSP00000392164:E750G	ENSP00000353508:E754G	E	+	2	0	MAP2	210267400	1.000000	0.71417	0.996000	0.52242	0.644000	0.38419	8.730000	0.91510	2.285000	0.76669	0.528000	0.53228	GAG		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		G	210559155	A	G	210559155	3	3	291	1	0	0	0	0	1	0	0	0	9235	304	11	4	2275	4	MAP2	2	210559155	Missense_Mutation	SNP	A	TCGA-25-1321-01A-01W-0492-08	107600440	210559155	32640218	4	16013											
STAG1	10274	broad.mit.edu	37	3	136323296	136323296	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr3:136323296C>T	ENST00000383202.2	-	4	408	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Missense_Mutation_p.R51Q|STAG1_ENST00000480733.1_Missense_Mutation_p.R51Q	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	51					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R51Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGGAGATTTTCGAGGTTTCTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											69	69	69					3																	136323296		2203	4300	6503	137805986	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.152G>A	3.37:g.136323296C>T	ENSP00000372689:p.Arg51Gln		137805986	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903007	0.72754	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T	0.23754	1.89;1.89	5.96	5.06	0.68205	.	0.132078	0.50627	D	0.000107	T	0.24812	0.0602	L	0.55481	1.735	0.80722	D	1	P;D;D	0.53745	0.921;0.962;0.962	B;B;B	0.38194	0.182;0.267;0.267	T	0.03852	-1.0998	10	0.32370	T	0.25	.	15.9519	0.79846	0.1361:0.8639:0.0:0.0	.	51;51;51	C9JJQ0;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	Q	51	ENSP00000372689:R51Q;ENSP00000236698:R51Q	ENSP00000236698:R51Q	R	-	2	0	STAG1	137805986	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.335000	0.79234	1.462000	0.47948	0.655000	0.94253	CGA		0.383	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		T	136323296	C	T	136323296	3	4	291	1	0	0	0	0	1	0	0	0	15244	884	31	1	3748	1	STAG1	3	136323296	Missense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08		136323296	61699134	5	16014											
APOD	347	broad.mit.edu	37	3	195295923	195295923	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr3:195295923G>T	ENST00000343267.3	-	5	779	c.418C>A	c.(418-420)Ctt>Att	p.L140I		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	140					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)	p.L140I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ACGTGAAAAAGTTGGATGATG	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											151	151	151					3																	195295923		2203	4300	6503	196777212	SO:0001583	missense	347				CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.418C>A	3.37:g.195295923G>T	ENSP00000345179:p.Leu140Ile		196777212	B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	ENST00000343267.3	37	CCDS33925.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660452	0.47572	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.29397	1.57;1.57;1.96	6.06	5.18	0.71444	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	L	0.59436	1.845	0.58432	D	0.999991	B	0.33777	0.425	B	0.33196	0.159	T	0.04481	-1.0948	10	0.11485	T	0.65	-19.8325	11.6875	0.51494	0.082:0.0:0.918:0.0	.	140	P05090	APOD_HUMAN	I	140;168;140	ENSP00000345179:L140I;ENSP00000415235:L168I;ENSP00000393076:L140I	ENSP00000345179:L140I	L	-	1	0	APOD	196777212	1.000000	0.71417	0.991000	0.47740	0.006000	0.05464	2.191000	0.42640	1.548000	0.49413	0.655000	0.94253	CTT		0.453	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		T	195295923	G	T	195295923	3	4	291	1	0	0	0	0	1	0	0	0	801	1029	36	3	155	3	APOD	3	195295923	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08	58972627	195295923	2726507	6	16015											
NAA15	80155	broad.mit.edu	37	4	140280992	140280992	+	Nonsense_Mutation	SNP	C	C	G			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr4:140280992C>G	ENST00000296543.5	+	12	1676	c.1353C>G	c.(1351-1353)taC>taG	p.Y451*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.Y451*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	451					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.Y451*(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTGCAAAATACATGCTAAAAG	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	4											91	87	88					4																	140280992		1917	4158	6075	140500442	SO:0001587	stop_gained	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1353C>G	4.37:g.140280992C>G	ENSP00000296543:p.Tyr451*		140500442	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.596196	0.97692	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.86	1.3	0.21679	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2167	10.46	0.44575	0.0:0.5571:0.0:0.4429	.	.	.	.	X	451;325;451	.	ENSP00000296543:Y451X	Y	+	3	2	NAA15	140500442	0.785000	0.28726	0.990000	0.47175	0.993000	0.82548	-0.036000	0.12185	-0.068000	0.12953	0.585000	0.79938	TAC		0.388	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		G	140280992	C	G	140280992	4	3	291	1	0	0	0	0	0	1	0	0	10118	489	17	3	1399	3	NAA15	4	140280992	Nonsense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08		140280992	50873284	7	16016											
TBC1D9	23158	broad.mit.edu	37	4	141555170	141555170	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr4:141555170C>T	ENST00000442267.2	-	16	2752	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	893	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.R893H(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGAACAAGCGGGAGGCCAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	4											63	63	63					4																	141555170		1976	4169	6145	141774620	SO:0001583	missense	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2678G>A	4.37:g.141555170C>T	ENSP00000411197:p.Arg893His		141774620	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306999	0.81247	.	.	ENSG00000109436	ENST00000442267	T	0.48836	0.8	6.17	5.33	0.75918	EF-hand-like domain (1);	0.051926	0.85682	D	0.000000	T	0.65575	0.2704	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.68887	-0.5290	10	0.72032	D	0.01	-7.4715	17.7453	0.88419	0.0:0.8777:0.1223:0.0	.	893	Q6ZT07	TBCD9_HUMAN	H	893	ENSP00000411197:R893H	ENSP00000411197:R893H	R	-	2	0	TBC1D9	141774620	1.000000	0.71417	0.994000	0.49952	0.540000	0.34992	7.818000	0.86416	1.616000	0.50265	-0.165000	0.13383	CGC		0.463	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		T	141555170	C	T	141555170	3	4	291	1	0	0	0	0	1	0	0	0	15627	768	27	1	1146	1	TBC1D9	4	141555170	Missense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08	1274178	141555170	49599106	8	16017											
ADAMTS16	170690	broad.mit.edu	37	5	5318299	5318299	+	Missense_Mutation	SNP	C	C	T	rs561527628		TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr5:5318299C>T	ENST00000274181.7	+	22	3602	c.3464C>T	c.(3463-3465)gCt>gTt	p.A1155V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1155	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1155V(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGTGCCTGGCTGGGGGCCGG	0.647													C|||	1	0.000199681	0	0	5008	,	,		17255	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	5											32	38	36					5																	5318299		2067	4188	6255	5371299	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3464C>T	5.37:g.5318299C>T	ENSP00000274181:p.Ala1155Val		5371299	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	0.434	-0.902040	0.02453	.	.	ENSG00000145536	ENST00000274181	T	0.55234	0.53	4.83	-2.25	0.06888	.	0.492649	0.20796	N	0.085529	T	0.28863	0.0716	N	0.25789	0.76	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.09271	-1.0682	10	0.25106	T	0.35	.	3.0219	0.06078	0.1083:0.3893:0.1068:0.3955	.	1155	Q8TE57	ATS16_HUMAN	V	1155	ENSP00000274181:A1155V	ENSP00000274181:A1155V	A	+	2	0	ADAMTS16	5371299	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.398000	0.02509	-1.139000	0.02881	-1.119000	0.02030	GCT		0.647	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		T	5318299	C	T	5318299	3	4	291	1	0	0	0	0	1	0	0	0	261	797	28	2	3550	2	ADAMTS16	5	5318299	Missense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08		5318299	175596961	9	16018											
MEF2C	4208	broad.mit.edu	37	5	88027630	88027630	+	Silent	SNP	G	G	T			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr5:88027630G>T	ENST00000437473.2	-	7	1143	c.726C>A	c.(724-726)ccC>ccA	p.P242P	MEF2C_ENST00000514015.1_Silent_p.P242P|MEF2C_ENST00000510942.1_Silent_p.P242P|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000504921.2_Silent_p.P242P|MEF2C_ENST00000340208.5_Silent_p.P260P|MEF2C_ENST00000539796.1_Silent_p.P194P|MEF2C_ENST00000514028.1_Silent_p.P242P|MEF2C_ENST00000508569.1_Silent_p.P242P|MEF2C_ENST00000424173.2_Silent_p.P240P|MEF2C_ENST00000506554.1_Silent_p.P242P	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	242					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P242P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AATTCATTGGGGGAGGAGATT	0.438										HNSCC(66;0.2)																																						1	Substitution - coding silent(1)	ovary(1)	5											98	95	96					5																	88027630		1852	4085	5937	88063386	SO:0001819	synonymous_variant	4208			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.726C>A	5.37:g.88027630G>T			88063386	C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	CCDS47245.1																																																																																				0.438	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		T	88027630	G	T	88027630	2	4	291	1	0	0	0	0	0	0	0	1	9457	1219	43	3		3	MEF2C	5	88027630	Silent	SNP	G	TCGA-25-1321-01A-01W-0492-08	82709331	88027630	92887630	10	16019											
FAM81B	153643	broad.mit.edu	37	5	94785911	94785911	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr5:94785911G>A	ENST00000283357.5	+	10	1330	c.1284G>A	c.(1282-1284)atG>atA	p.M428I		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	428						nucleus (GO:0005634)		p.M428I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAACAAAGATGGATTTAGAGA	0.338																																																1	Substitution - Missense(1)	ovary(1)	5											119	112	114					5																	94785911		1811	4074	5885	94811667	SO:0001583	missense	153643				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.1284G>A	5.37:g.94785911G>A	ENSP00000283357:p.Met428Ile		94811667		Missense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017539	0.54576	.	.	ENSG00000153347	ENST00000283357;ENST00000512365	T	0.17854	2.25	5.62	4.7	0.59300	.	0.238711	0.45126	D	0.000384	T	0.17874	0.0429	L	0.43152	1.355	0.25327	N	0.989065	B	0.28082	0.2	B	0.28465	0.09	T	0.09885	-1.0654	10	0.35671	T	0.21	-17.7928	17.1715	0.86832	0.0:0.1373:0.8627:0.0	.	428	Q96LP2	FA81B_HUMAN	I	428;103	ENSP00000283357:M428I	ENSP00000283357:M428I	M	+	3	0	FAM81B	94811667	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.248000	0.58760	2.640000	0.89533	0.591000	0.81541	ATG		0.338	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		A	94785911	G	A	94785911	3	1	291	1	0	0	0	0	1	0	0	0	5629	1348	47	2	1322	2	FAM81B	5	94785911	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08	6758281	94785911	86129349	11	16020											
PPP1R3A	5506	broad.mit.edu	37	7	113522144	113522144	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr7:113522144C>A	ENST00000284601.3	-	3	984	c.916G>T	c.(916-918)Gat>Tat	p.D306Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	306					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D306Y(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGTTTACATCTTTTACATTT	0.348																																																1	Substitution - Missense(1)	ovary(1)	7											216	177	190					7																	113522144		2203	4300	6503	113309380	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.916G>T	7.37:g.113522144C>A	ENSP00000284601:p.Asp306Tyr		113309380	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951561	0.53186	.	.	ENSG00000154415	ENST00000284601	T	0.26373	1.74	5.92	5.92	0.95590	.	0.088137	0.48767	D	0.000180	T	0.54029	0.1833	M	0.72894	2.215	0.48395	D	0.999642	D	0.89917	1.0	D	0.77557	0.99	T	0.52852	-0.8520	10	0.87932	D	0	-2.6119	20.3207	0.98668	0.0:1.0:0.0:0.0	.	306	Q16821	PPR3A_HUMAN	Y	306	ENSP00000284601:D306Y	ENSP00000284601:D306Y	D	-	1	0	PPP1R3A	113309380	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	5.085000	0.64468	2.813000	0.96785	0.561000	0.74099	GAT		0.348	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113522144	C	A	113522144	3	1	291	1	0	0	0	0	1	0	0	0	12374	913	32	3	2460	3	PPP1R3A	7	113522144	Missense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08		113522144	45616519	12	16021											
LPL	4023	broad.mit.edu	37	8	19811856	19811856	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr8:19811856G>C	ENST00000311322.8	+	5	1237	c.767G>C	c.(766-768)gGa>gCa	p.G256A		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	256					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.G256A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GCAGAGAGAGGACTTGGAGGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	8											81	77	78					8																	19811856		2203	4300	6503	19856136	SO:0001583	missense	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.767G>C	8.37:g.19811856G>C	ENSP00000309757:p.Gly256Ala		19856136	B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269004	0.59540	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.94457	-3.43	6.08	6.08	0.98989	Lipase, N-terminal (1);	0.186891	0.64402	D	0.000020	D	0.96679	0.8916	L	0.61036	1.89	0.41118	D	0.985795	D	0.89917	1.0	D	0.97110	1.0	D	0.95699	0.8747	8	.	.	.	-28.4149	18.1573	0.89696	0.0:0.0:1.0:0.0	.	256	P06858	LIPL_HUMAN	A	256;180;242	ENSP00000309757:G256A	.	G	+	2	0	LPL	19856136	1.000000	0.71417	0.806000	0.32338	0.469000	0.32828	5.663000	0.68038	2.894000	0.99253	0.655000	0.94253	GGA		0.408	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			C	19811856	G	C	19811856	3	2	291	1	0	0	0	0	1	0	0	0	8921	1174	41	3	785	3	LPL	8	19811856	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08		19811856	126552166	13	16022											
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding (GO:0008270)	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343																																																3	Substitution - Nonsense(3)	lung(1)|ovary(1)|prostate(1)	8											187	158	168					8																	82626245		2203	4299	6502	82788800	SO:0001587	stop_gained	79752				CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"Zinc fingers, AN1-type domain containing"	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.388C>T	8.37:g.82626245G>A	ENSP00000220669:p.Arg130*		82788800	E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP	ENST00000220669.5	37	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970302	0.92919	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.78	2.72	0.32119	.	0.330492	0.31495	N	0.007556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.0672	0.47982	0.0:0.4208:0.4368:0.1425	.	.	.	.	X	130;130;23;23;23;23;23;130;23;23;23;23;23;23	.	ENSP00000220669:R130X	R	-	1	2	ZFAND1	82788800	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	2.483000	0.45233	0.725000	0.32318	0.650000	0.86243	CGA		0.343	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		A	82626245	G	A	82626245	4	1	291	1	0	0	0	0	0	1	0	0	17626	1153	40	1	478	1	ZFAND1	8	82626245	Nonsense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08	62814389	82626245	63737777	14	16023											
TOPORS	10210	broad.mit.edu	37	9	32542101	32542101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr9:32542101C>A	ENST00000360538.2	-	3	2538	c.2422G>T	c.(2422-2424)Gaa>Taa	p.E808*	TOPORS_ENST00000379858.1_Nonsense_Mutation_p.E743*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	808	Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E808*(1)|p.E808K(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGAGCCACTTCGTTAGTACCC	0.423																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	ovary(1)|large_intestine(1)	9	GRCh37	CM081845	TOPORS	M							124	120	121					9																	32542101		2203	4300	6503	32532101	SO:0001587	stop_gained	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2422G>T	9.37:g.32542101C>A	ENSP00000353735:p.Glu808*		32532101	O43273|Q6P987|Q9NS55|Q9UNR9	Nonsense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777658	0.90195	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	.	.	.	5.91	3.98	0.46160	.	0.123059	0.37348	N	0.002126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.6127	8.2296	0.31590	0.1458:0.7289:0.0:0.1252	.	.	.	.	X	808;743	.	ENSP00000353735:E808X	E	-	1	0	TOPORS	32532101	0.009000	0.17119	0.870000	0.34147	0.561000	0.35649	0.740000	0.26188	2.803000	0.96430	0.650000	0.86243	GAA		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		A	32542101	C	A	32542101	4	1	291	1	0	0	0	0	0	1	0	0	16370	893	31	3	719	3	TOPORS	9	32542101	Nonsense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08		32542101	108671330	15	16024											
ASB13	79754	broad.mit.edu	37	10	5683797	5683797	+	Silent	SNP	C	C	A			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr10:5683797C>A	ENST00000357700.6	-	5	671	c.645G>T	c.(643-645)ggG>ggT	p.G215G	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	215					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.G215G(1)		NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		ACGGCTTCTTCCCGCGGTTGT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	10											82	73	76					10																	5683797		2203	4300	6503	5723803	SO:0001819	synonymous_variant	79754			AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"Ankyrin repeat domain containing"	19765	protein-coding gene	gene with protein product		615055	"ankyrin repeat and SOCS box-containing 13"			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.645G>T	10.37:g.5683797C>A			5723803	A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Silent	SNP	ENST00000357700.6	37	CCDS7070.1																																																																																				0.592	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			A	5683797	C	A	5683797	2	1	291	1	0	0	0	0	0	0	0	1	1017	842	30	3		3	ASB13	10	5683797	Silent	SNP	C	TCGA-25-1321-01A-01W-0492-08		5683797	129850950	16	16025											
TCERG1L	256536	broad.mit.edu	37	10	133106529	133106529	+	Silent	SNP	C	C	T			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr10:133106529C>T	ENST00000368642.4	-	3	700	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	205								p.P164P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AGGCAGGAGCCGGCCTGGACA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	10											57	55	56					10																	133106529		2203	4300	6503	132996519	SO:0001819	synonymous_variant	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.615G>A	10.37:g.133106529C>T			132996519	Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	CCDS7662.2																																																																																				0.522	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		T	133106529	C	T	133106529	2	4	291	1	0	0	0	0	0	0	0	1	15686	639	23	1		1	TCERG1L	10	133106529	Silent	SNP	C	TCGA-25-1321-01A-01W-0492-08	127422732	133106529	2428218	17	16026											
OR4A15	81328	broad.mit.edu	37	11	55135464	55135464	+	Missense_Mutation	SNP	C	C	A	rs534202398		TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr11:55135464C>A	ENST00000314706.3	+	1	105	c.105C>A	c.(103-105)aaC>aaA	p.N35K		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N35K(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAAATAAGAACAATGTGACTG	0.393													.|||	1	0.000199681	0	0.0014	5008	,	,		18158	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11											67	63	64					11																	55135464		2201	4296	6497	54892040	SO:0001583	missense	81328			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.105C>A	11.37:g.55135464C>A	ENSP00000325065:p.Asn35Lys		54892040	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361763	0.24684	.	.	ENSG00000181958	ENST00000314706	T	0.01335	5.0	3.48	-1.32	0.09201	.	0.000000	0.43110	U	0.000620	T	0.01320	0.0043	L	0.45228	1.405	0.19300	N	0.99998	B	0.24823	0.112	B	0.24848	0.056	T	0.44221	-0.9342	10	0.56958	D	0.05	.	3.9436	0.09338	0.0:0.4743:0.179:0.3466	.	35	Q8NGL6	O4A15_HUMAN	K	35	ENSP00000325065:N35K	ENSP00000325065:N35K	N	+	3	2	OR4A15	54892040	0.261000	0.24063	0.448000	0.26945	0.191000	0.23601	0.159000	0.16442	-0.102000	0.12197	-0.454000	0.05498	AAC		0.393	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		A	55135464	C	A	55135464	3	1	291	1	0	0	0	0	1	0	0	0	11040	477	17	3	107	3	OR4A15	11	55135464	Missense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08		55135464	79871052	18	16027											
OR4S2	219431	broad.mit.edu	37	11	55418785	55418785	+	Missense_Mutation	SNP	C	C	T	rs148733636		TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr11:55418785C>T	ENST00000312422.2	+	1	406	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATCATGAACCGGGAGACATG	0.433																																																1	Substitution - Missense(1)	ovary(1)	11						C	TRP/ARG	1,4363		0,1,2181	197	166	177		406	-1.1	0	11	dbSNP_134	177	1,8077		0,1,4038	no	missense	OR4S2	NM_001004059.2	101	0,2,6219	TT,TC,CC		0.0124,0.0229,0.0161	benign	136/312	55418785	2,12440	2182	4039	6221	55175361	SO:0001583	missense	219431			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.406C>T	11.37:g.55418785C>T	ENSP00000310337:p.Arg136Trp		55175361	Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065803	0.08388	2.29E-4	1.24E-4	ENSG00000174982	ENST00000312422	T	0.00949	5.51	5.09	-1.09	0.09904	GPCR, rhodopsin-like superfamily (1);	0.270733	0.25205	N	0.032358	T	0.00998	0.0033	L	0.50333	1.59	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.44757	-0.9307	10	0.44086	T	0.13	.	5.7679	0.18237	0.5214:0.3235:0.0:0.1551	.	136	Q8NH73	OR4S2_HUMAN	W	136	ENSP00000310337:R136W	ENSP00000310337:R136W	R	+	1	2	OR4S2	55175361	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-2.203000	0.01234	0.129000	0.18514	0.542000	0.68232	CGG		0.433	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		T	55418785	C	T	55418785	3	4	291	1	0	0	0	0	1	0	0	0	11083	643	23	1	408	1	OR4S2	11	55418785	Missense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08	283321	55418785	79587731	19	16028											
TIRAP	114609	broad.mit.edu	37	11	126162948	126162948	+	Missense_Mutation	SNP	G	G	A	rs185114125	byFrequency	TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr11:126162948G>A	ENST00000392680.2	+	5	1049	c.644G>A	c.(643-645)cGt>cAt	p.R215H	TIRAP_ENST00000392679.1_Missense_Mutation_p.R215H|RP11-712L6.7_ENST00000533378.1_RNA|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392678.3_Missense_Mutation_p.R215H	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	215	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)	p.R215H(1)		breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		GCTGTCATGCGTTGTAAGCTA	0.507													G|||	2	0.000399361	0	0	5008	,	,		20155	0		0.002	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11						G	HIS/ARG,HIS/ARG	1,4355		0,1,2177	59	64	63		644,644	3.9	0.1	11		63	3,8561		0,3,4279	yes	missense,missense	TIRAP	NM_001039661.1,NM_148910.2	29,29	0,4,6456	AA,AG,GG		0.035,0.023,0.031	benign,benign	215/222,215/236	126162948	4,12916	2178	4282	6460	125668158	SO:0001583	missense	114609			AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"MyD88 adapter-like"	606252	"Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.644G>A	11.37:g.126162948G>A	ENSP00000376447:p.Arg215His		125668158	B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP	ENST00000392680.2	37	CCDS8472.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	13.05	2.121606	0.37436	2.3E-4	3.5E-4	ENSG00000150455	ENST00000392679;ENST00000279992;ENST00000392678;ENST00000392680	T;T;T	0.10573	4.24;2.86;4.24	5.83	3.88	0.44766	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.372591	0.27172	N	0.020584	T	0.10594	0.0259	L	0.50919	1.6	0.09310	N	1	B;B	0.15930	0.004;0.015	B;B	0.08055	0.0;0.003	T	0.24693	-1.0153	9	.	.	.	-19.3297	9.988	0.41854	0.235:0.0:0.765:0.0	.	215;215	P58753;Q56UH9	TIRAP_HUMAN;.	H	215	ENSP00000376446:R215H;ENSP00000376445:R215H;ENSP00000376447:R215H	.	R	+	2	0	TIRAP	125668158	0.001000	0.12720	0.099000	0.21106	0.977000	0.68977	0.492000	0.22435	0.716000	0.32124	0.655000	0.94253	CGT		0.507	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000277092.1	NM_148910		A	126162948	G	A	126162948	3	1	291	1	0	0	0	0	1	0	0	0	15927	1145	40	1	650	1	TIRAP	11	126162948	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08	70744163	126162948	8843568	20	16029											
TRHDE	29953	broad.mit.edu	37	12	72893404	72893404	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr12:72893404G>A	ENST00000261180.4	+	6	1672	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	526					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A526T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGACTGGATCGCATATAAAAA	0.388																																																1	Substitution - Missense(1)	ovary(1)	12											122	108	113					12																	72893404		2203	4300	6503	71179671	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1576G>A	12.37:g.72893404G>A	ENSP00000261180:p.Ala526Thr		71179671	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019354	0.75275	.	.	ENSG00000072657	ENST00000261180	T	0.04454	3.62	5.28	5.28	0.74379	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04724	0.0128	N	0.11789	0.175	0.80722	D	1	P	0.48834	0.916	B	0.42422	0.387	T	0.54984	-0.8211	10	0.41790	T	0.15	.	18.9016	0.92444	0.0:0.0:1.0:0.0	.	526	Q9UKU6	TRHDE_HUMAN	T	526	ENSP00000261180:A526T	ENSP00000261180:A526T	A	+	1	0	TRHDE	71179671	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	9.790000	0.99075	2.456000	0.83038	0.650000	0.86243	GCA		0.388	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	72893404	G	A	72893404	3	1	291	1	0	0	0	0	1	0	0	0	16479	1087	38	1	1598	1	TRHDE	12	72893404	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08		72893404	60958491	21	16030											
TGM1	7051	broad.mit.edu	37	14	24723982	24723982	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr14:24723982A>G	ENST00000206765.6	-	13	2099	c.1976T>C	c.(1975-1977)cTt>cCt	p.L659P	TGM1_ENST00000544573.1_Missense_Mutation_p.L217P	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	659					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L659P(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTGGTCCACAAGATGGGGCCG	0.622																																																1	Substitution - Missense(1)	ovary(1)	14											74	68	70					14																	24723982		2203	4300	6503	23793822	SO:0001583	missense	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1976T>C	14.37:g.24723982A>G	ENSP00000206765:p.Leu659Pro		23793822	B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589081	0.86851	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	D;D	0.84442	-1.85;-1.85	5.31	5.31	0.75309	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92949	0.6379	10	0.87932	D	0	-20.5588	13.2606	0.60102	1.0:0.0:0.0:0.0	.	659	P22735	TGM1_HUMAN	P	659;217	ENSP00000206765:L659P;ENSP00000439446:L217P	ENSP00000206765:L659P	L	-	2	0	TGM1	23793822	1.000000	0.71417	0.977000	0.42913	0.954000	0.61252	8.048000	0.89442	2.223000	0.72356	0.533000	0.62120	CTT		0.622	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		G	24723982	A	G	24723982	3	3	291	1	0	0	0	0	1	0	0	0	15829	72	3	4	489	4	TGM1	14	24723982	Missense_Mutation	SNP	A	TCGA-25-1321-01A-01W-0492-08		24723982	82625558	22	16031											
SPTB	6710	broad.mit.edu	37	14	65261222	65261222	+	Silent	SNP	G	G	C			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr14:65261222G>C	ENST00000389721.5	-	12	1790	c.1758C>G	c.(1756-1758)gcC>gcG	p.A586A	SPTB_ENST00000556626.1_Silent_p.A586A|SPTB_ENST00000389720.3_Silent_p.A586A|SPTB_ENST00000389722.3_Silent_p.A586A|SPTB_ENST00000542895.1_Silent_p.A586A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	586					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.A586A(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGCGGTGATGGCCTTCACTT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	14											242	221	228					14																	65261222		2203	4300	6503	64330975	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1758C>G	14.37:g.65261222G>C			64330975	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.547	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			C	65261222	G	C	65261222	2	2	291	1	0	0	0	0	0	0	0	1	15120	1335	47	3		3	SPTB	14	65261222	Silent	SNP	G	TCGA-25-1321-01A-01W-0492-08	40537240	65261222	42088318	23	16032											
ZFYVE26	23503	broad.mit.edu	37	14	68264437	68264437	+	Missense_Mutation	SNP	G	G	A	rs573210032		TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr14:68264437G>A	ENST00000347230.4	-	12	2422	c.2284C>T	c.(2284-2286)Cgt>Tgt	p.R762C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R762C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	762					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R762C(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGGGGTGACGTGTGGCAGGC	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		18952	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	14											74	65	68					14																	68264437		2203	4300	6503	67334190	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2284C>T	14.37:g.68264437G>A	ENSP00000251119:p.Arg762Cys		67334190	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127969	0.37533	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.30448	1.68;1.53	5.19	-6.55	0.01854	.	0.961963	0.08646	N	0.914717	T	0.33818	0.0876	L	0.60455	1.87	0.22710	N	0.998827	D;D;D	0.76494	0.999;0.994;0.99	P;P;B	0.59288	0.855;0.653;0.333	T	0.25363	-1.0134	10	0.54805	T	0.06	-1.8006	0.44	0.00484	0.3285:0.197:0.2709:0.2037	.	762;762;762	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	C	762;741;762	ENSP00000251119:R762C;ENSP00000450603:R762C	ENSP00000251119:R762C	R	-	1	0	ZFYVE26	67334190	0.019000	0.18553	0.000000	0.03702	0.046000	0.14306	-0.772000	0.04694	-1.283000	0.02393	0.655000	0.94253	CGT		0.537	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68264437	G	A	68264437	3	1	291	1	0	0	0	0	1	0	0	0	17668	1145	40	1	5459	1	ZFYVE26	14	68264437	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08	3003215	68264437	39085103	24	16033											
SEMA4B	10509	broad.mit.edu	37	15	90760763	90760763	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr15:90760763G>A	ENST00000411539.2	+	2	510	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	SEMA4B_ENST00000379122.3_Missense_Mutation_p.V79M|SEMA4B_ENST00000332496.6_Missense_Mutation_p.V84M	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	79	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)	p.V84M(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GACCCTGTACGTGGGTGCTCG	0.592																																																1	Substitution - Missense(1)	ovary(1)	15											54	53	53					15																	90760763		1995	4164	6159	88561767	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.250G>A	15.37:g.90760763G>A	ENSP00000394720:p.Val84Met		88561767	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035219	0.54896	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.27104	1.69;1.69;1.69	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	M	0.90369	3.11	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.66436	-0.5924	10	0.87932	D	0	.	14.7071	0.69200	0.0:0.1458:0.8542:0.0	.	84;79	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	M	84;79;84	ENSP00000332204:V84M;ENSP00000368417:V79M;ENSP00000394720:V84M	ENSP00000332204:V84M	V	+	1	0	SEMA4B	88561767	1.000000	0.71417	0.997000	0.53966	0.103000	0.19146	4.804000	0.62554	2.634000	0.89283	0.655000	0.94253	GTG		0.592	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		A	90760763	G	A	90760763	3	1	291	1	0	0	0	0	1	0	0	0	14035	1145	40	1	256	1	SEMA4B	15	90760763	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08		90760763	11770629	25	16034											
SYNM	23336	broad.mit.edu	37	15	99669768	99669768	+	Silent	SNP	G	G	A	rs540983762	byFrequency	TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr15:99669768G>A	ENST00000560674.1	+	4	814	c.345G>A	c.(343-345)tcG>tcA	p.S115S	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.S400S|SYNM_ENST00000336292.6_Silent_p.S400S|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	401	Coil 1B.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.S400S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTTGGGCTCGGGATATTCTT	0.517																																					Pancreas(125;1071 1762 21750 40003 40381)											1	Substitution - coding silent(1)	ovary(1)	15											131	136	134					15																	99669768		1914	4127	6041	97487291	SO:0001819	synonymous_variant	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.345G>A	15.37:g.99669768G>A			97487291	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37																																																																																					0.517	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		A	99669768	G	A	99669768	2	1	291	1	0	0	0	0	0	0	0	1	15455	1103	39	1		1	SYNM	15	99669768	Silent	SNP	G	TCGA-25-1321-01A-01W-0492-08	8909005	99669768	2861624	26	16035											
CNTNAP4	85445	broad.mit.edu	37	16	76569458	76569458	+	Silent	SNP	A	A	G			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr16:76569458A>G	ENST00000476707.1	+	17	2920	c.2781A>G	c.(2779-2781)agA>agG	p.R927R	CNTNAP4_ENST00000377504.4_Silent_p.R875R|CNTNAP4_ENST00000478060.1_Silent_p.R851R|CNTNAP4_ENST00000307431.8_Silent_p.R923R|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	924	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.R923R(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGGCCACCAGACAGAGAGGCT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	16											57	63	61					16																	76569458		2192	4298	6490	75126959	SO:0001819	synonymous_variant	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2781A>G	16.37:g.76569458A>G			75126959	E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37																																																																																					0.478	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		G	76569458	A	G	76569458	2	3	291	1	0	0	0	0	0	0	0	1	3649	272	10	4		4	CNTNAP4	16	76569458	Silent	SNP	A	TCGA-25-1321-01A-01W-0492-08		76569458	13785295	27	16036											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	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	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	291	1	0	0	0	0	1	0	0	0	16381	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08		7577121	73618089	28	16037											
C17orf68	80169	broad.mit.edu	37	17	8139569	8139569	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr17:8139569C>T	ENST00000315684.8	-	6	891	c.884G>A	c.(883-885)cGc>cAc	p.R295H	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	295					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.R295H(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AACATGCTGGCGCTGACCACG	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											57	60	59					17																	8139569		2102	4228	6330	8080294	SO:0001583	missense	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.884G>A	17.37:g.8139569C>T	ENSP00000313759:p.Arg295His		8080294	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	c	10.69	1.421894	0.25639	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83506	-1.73;-1.73	4.76	-3.0	0.05480	.	1.478850	0.03876	N	0.276456	T	0.74974	0.3787	L	0.51422	1.61	0.09310	N	1	B	0.17465	0.022	B	0.14578	0.011	T	0.56208	-0.8017	10	0.45353	T	0.12	-0.018	2.6467	0.04986	0.141:0.2704:0.4141:0.1745	.	295	Q2NKJ3	CTC1_HUMAN	H	295;260	ENSP00000313759:R295H;ENSP00000396018:R260H	ENSP00000313759:R295H	R	-	2	0	CTC1	8080294	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-1.593000	0.02096	-0.200000	0.10300	0.556000	0.70494	CGC		0.582	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		T	8139569	C	T	8139569	3	4	291	1	0	0	0	0	1	0	0	0	1876	768	27	1	2841	1	C17orf68	17	8139569	Missense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08	562448	8139569	73055641	29	16038											
ZNF101	94039	broad.mit.edu	37	19	19791053	19791053	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr19:19791053G>A	ENST00000592502.1	+	4	1365	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	ZNF101_ENST00000415784.2_Missense_Mutation_p.G299R			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G419R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TCATTTGGCCGGGCGTAGcca	0.483																																																1	Substitution - Missense(1)	ovary(1)	19											40	41	41					19																	19791053		2202	4300	6502	19652053	SO:0001583	missense	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.1255G>A	19.37:g.19791053G>A	ENSP00000468049:p.Gly419Arg		19652053	C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	6.481	0.457014	0.12283	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.06218	3.46;3.33	0.235	0.235	0.15431	Zinc finger, C2H2 (1);	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	0.999996	D	0.58970	0.984	B	0.38056	0.264	T	0.47315	-0.9127	8	.	.	.	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	419	Q8IZC7	ZN101_HUMAN	R	419;419;299	ENSP00000319716:G419R;ENSP00000400952:G299R	.	G	+	1	0	ZNF101	19652053	0.004000	0.15560	0.043000	0.18650	0.044000	0.14063	0.570000	0.23653	0.308000	0.22923	0.313000	0.20887	GGG		0.483	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		A	19791053	G	A	19791053	3	1	291	1	0	0	0	0	1	0	0	0	17714	1116	39	1	1269	1	ZNF101	19	19791053	Missense_Mutation	SNP	G	TCGA-25-1321-01A-01W-0492-08		19791053	39337930	30	16039											
LIPI	149998	broad.mit.edu	37	21	15561678	15561678	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chr21:15561678A>G	ENST00000536861.1	-	2	108	c.109T>C	c.(109-111)Ttt>Ctt	p.F37L	LIPI_ENST00000344577.2_Missense_Mutation_p.F58L			Q6XZB0	LIPI_HUMAN	lipase, member I	37					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.F58L(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTCGGAATAAATAAATCTCTG	0.348																																																1	Substitution - Missense(1)	ovary(1)	21											91	94	93					21																	15561678		2203	4300	6503	14483549	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.109T>C	21.37:g.15561678A>G	ENSP00000440381:p.Phe37Leu		14483549	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	A	17.07	3.293936	0.60086	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.87412	-2.25;-2.24	5.3	4.11	0.48088	.	3.131710	0.00582	N	0.000320	D	0.85695	0.5756	L	0.52011	1.625	0.22500	N	0.999048	B	0.22414	0.069	B	0.29862	0.108	T	0.65051	-0.6262	10	0.17369	T	0.5	.	8.6053	0.33769	0.8291:0.0:0.0:0.1709	.	58	Q6XZB0-2	.	L	58;37	ENSP00000343331:F58L;ENSP00000440381:F37L	ENSP00000343331:F58L	F	-	1	0	LIPI	14483549	0.306000	0.24490	0.987000	0.45799	0.843000	0.47879	0.623000	0.24447	0.920000	0.36970	0.533000	0.62120	TTT		0.348	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		G	15561678	A	G	15561678	3	3	291	1	0	0	0	0	1	0	0	0	8825	101	4	4	1309	4	LIPI	21	15561678	Missense_Mutation	SNP	A	TCGA-25-1321-01A-01W-0492-08		15561678	32568217	31	16040											
TCEAL6	158931	broad.mit.edu	37	X	101396192	101396192	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chrX:101396192C>T	ENST00000372774.3	-	3	361	c.112G>A	c.(112-114)Gcg>Acg	p.A38T	TCEAL6_ENST00000372773.1_Missense_Mutation_p.A38T	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	38	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A38T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ttcccctccgcgtctggcttt	0.498																																																1	Substitution - Missense(1)	ovary(1)	X											113	91	98					X																	101396192		2203	4300	6503	101282848	SO:0001583	missense	158931			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.112G>A	X.37:g.101396192C>T	ENSP00000361860:p.Ala38Thr		101282848	Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	T	0.815	-0.750600	0.03041	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.22539	1.95;1.95	2.47	-3.18	0.05186	.	1.722260	0.03648	N	0.240630	T	0.13798	0.0334	N	0.22421	0.69	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.33111	-0.9881	10	0.13853	T	0.58	.	10.2982	0.43637	0.0:0.4839:0.0:0.5161	.	38	Q6IPX3-2	.	T	38	ENSP00000361860:A38T;ENSP00000361859:A38T	ENSP00000361859:A38T	A	-	1	0	TCEAL6	101282848	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-3.926000	0.00333	-1.795000	0.01255	-1.657000	0.00753	GCG		0.498	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		T	101396192	C	T	101396192	3	4	291	1	0	0	0	0	1	0	0	0	15675	768	27	1	443	1	TCEAL6	23	101396192	Missense_Mutation	SNP	C	TCGA-25-1321-01A-01W-0492-08		101396192	53874368	32	16041											
KIAA1210	57481	broad.mit.edu	37	X	118221320	118221320	+	Silent	SNP	C	C	T			TCGA-25-1321-01A-01W-0492-08	TCGA-25-1321-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	51051328-40ac-40f9-a7b1-2c92f814ab7f	0f808f3f-709e-40bc-bf7f-74f0aaff408a	g.chrX:118221320C>T	ENST00000402510.2	-	11	3872	c.3873G>A	c.(3871-3873)caG>caA	p.Q1291Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1291								p.Q1115Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGGGAGACAGCTGCTCTTTAA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	X											68	65	66					X																	118221320		1843	4076	5919	118105348	SO:0001819	synonymous_variant	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3873G>A	X.37:g.118221320C>T			118105348	B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	1.640	-0.516736	0.04200	.	.	ENSG00000248857	ENST00000440399	.	.	.	3.97	1.95	0.26073	.	.	.	.	.	T	0.27063	0.0663	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21895	-1.0232	4	.	.	.	.	5.6643	0.17687	0.0:0.7178:0.0:0.2822	.	.	.	.	T	698	.	.	A	-	1	0	KIAA1210	118105348	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.043000	0.13971	0.366000	0.24427	0.600000	0.82982	GCT		0.493	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		T	118221320	C	T	118221320	2	4	291	1	0	0	0	0	0	0	0	1	8214	796	28	2		2	KIAA1210	23	118221320	Silent	SNP	C	TCGA-25-1321-01A-01W-0492-08	16825128	118221320	37049240	33	16042											
SRRM1	10250	genome.wustl.edu	37	1	24978036	24978036	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr1:24978036A>G	ENST00000323848.9	+	6	973	c.658A>G	c.(658-660)Act>Gct	p.T220A	SRRM1_ENST00000537199.1_Missense_Mutation_p.T89A|SRRM1_ENST00000447431.2_Missense_Mutation_p.T220A|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.T220A	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	220	Arg-rich.|Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.T220A(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAAGGAAAAAACTCCAGAGCT	0.438																																					Ovarian(68;897 1494 3282 17478)											1	Substitution - Missense(1)	ovary(1)	1											47	55	52					1																	24978036		2203	4300	6503	24850623	SO:0001583	missense	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.658A>G	1.37:g.24978036A>G	ENSP00000326261:p.Thr220Ala		24850623	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505956	0.44558	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.44482	0.96;0.97;0.96;0.92	5.81	4.66	0.58398	.	0.192383	0.36268	N	0.002694	T	0.30039	0.0752	L	0.36672	1.1	0.28574	N	0.910473	B;B	0.18461	0.002;0.028	B;B	0.14578	0.003;0.011	T	0.20571	-1.0271	10	0.09338	T	0.73	-1.2736	11.9499	0.52948	0.8661:0.0:0.0:0.1339	.	220;220	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	A	220;220;220;89	ENSP00000326261:T220A;ENSP00000391430:T220A;ENSP00000363510:T220A;ENSP00000441776:T89A	ENSP00000326261:T220A	T	+	1	0	SRRM1	24850623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.324000	0.43831	0.974000	0.38366	0.528000	0.53228	ACT		0.438	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		G	24978036	A	G	24978036	3	3	292	1	0	0	0	0	1	0	0	0	15170	43	2	4	680	4	SRRM1	1	24978036	Missense_Mutation	SNP	A	TCGA-25-1322-01A-01W-0494-09		24978036	224272585	1	16043											
RNF220	55182	genome.wustl.edu	37	1	44878304	44878304	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr1:44878304G>A	ENST00000355387.2	+	2	985	c.535G>A	c.(535-537)Gtt>Att	p.V179I	RNF220_ENST00000361799.2_Missense_Mutation_p.V179I|RNF220_ENST00000372247.2_Missense_Mutation_p.V179I			Q5VTB9	RN220_HUMAN	ring finger protein 220	179					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V179I(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTCACTAAAGGTTGATGACAC	0.498																																																2	Substitution - Missense(2)	ovary(2)	1											92	84	87					1																	44878304		2203	4300	6503	44650891	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.535G>A	1.37:g.44878304G>A	ENSP00000347548:p.Val179Ile		44650891	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683984	0.47991	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	5.69	0.88448	.	0.136762	0.48767	D	0.000162	T	0.63438	0.2511	L	0.27053	0.805	0.80722	D	1	P	0.44690	0.841	P	0.55824	0.785	T	0.62680	-0.6803	9	0.48119	T	0.1	.	19.8074	0.96536	0.0:0.0:1.0:0.0	.	179	Q5VTB9	RN220_HUMAN	I	179	.	ENSP00000347548:V179I	V	+	1	0	RNF220	44650891	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.529000	0.81952	2.684000	0.91462	0.655000	0.94253	GTT		0.498	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		A	44878304	G	A	44878304	3	1	292	1	0	0	0	0	1	0	0	0	13486	1261	44	2	537	2	RNF220	1	44878304	Missense_Mutation	SNP	G	TCGA-25-1322-01A-01W-0494-09	19900268	44878304	204372317	2	16044											
CFHR4	3080	genome.wustl.edu	37	1	196871732	196871732	+	Intron	SNP	G	G	A	rs77556138	byFrequency	TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr1:196871732G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Silent_p.T81T|CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000367416.2_Silent_p.T80T|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.T81T(1)		large_intestine(2)|ovary(1)|skin(3)	6						GGTCACCAACGGTCCCATGCC	0.353													A|||	40	0.00798722	0.0303	0	5008	,	,		15564	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1						A	,,	123,4135		8,107,2014	109	108	108		243,240,243	2.1	0	1	dbSNP_131	108	0,8574		0,0,4287	no	coding-synonymous,coding-synonymous,coding-synonymous	CFHR4	NM_001201550.2,NM_001201551.1,NM_006684.4	,,	8,107,6301	AA,AG,GG		0.0,2.8887,0.9585	,,	81/579,80/578,81/332	196871732	123,12709	2129	4287	6416	195138355	SO:0001627	intron_variant	10877			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46853G>A	1.37:g.196871732G>A			195138355	Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37																																																																																					0.353	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		A	196871732	G	A	196871732	1	1	292	0	1	0	0	0	0	0	0	0	3287	1103	39	1		1	CFHR4	1	196871732	Intron	SNP	G	TCGA-25-1322-01A-01W-0494-09	151993428	196871732	52378889	3	16045											
LHCGR	3973	genome.wustl.edu	37	2	48915353	48915353	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr2:48915353A>G	ENST00000294954.7	-	11	1604	c.1583T>C	c.(1582-1584)aTa>aCa	p.I528T	LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.I501T|LHCGR_ENST00000344775.3_Missense_Mutation_p.I466T|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	528					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.I528T(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GATGGTTAATATATAGACTTG	0.398																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	2											106	108	108					2																	48915353		2203	4300	6503	48768857	SO:0001583	missense	3973				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1583T>C	2.37:g.48915353A>G	ENSP00000294954:p.Ile528Thr		48768857	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.533691	0.64972	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.73258	-0.73;-0.73;-0.73	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.097702	0.64402	D	0.000001	D	0.84884	0.5571	M	0.83012	2.62	0.58432	D	0.999991	D	0.71674	0.998	D	0.85130	0.997	D	0.86311	0.1686	9	.	.	.	.	15.1242	0.72469	1.0:0.0:0.0:0.0	.	528	P22888	LSHR_HUMAN	T	466;528;501	ENSP00000344301:I466T;ENSP00000294954:I528T;ENSP00000386033:I501T	.	I	-	2	0	LHCGR	48768857	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.339000	0.96797	2.176000	0.68965	0.477000	0.44152	ATA		0.398	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		G	48915353	A	G	48915353	3	3	292	1	0	0	0	0	1	0	0	0	8762	449	16	4	520	4	LHCGR	2	48915353	Missense_Mutation	SNP	A	TCGA-25-1322-01A-01W-0494-09		48915353	194284020	4	16046											
POTEF	728378	genome.wustl.edu	37	2	130833008	130833008	+	Silent	SNP	A	A	G			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr2:130833008A>G	ENST00000409914.2	-	17	2436	c.2037T>C	c.(2035-2037)gaT>gaC	p.D679D	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000357462.5_Silent_p.D679D|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	679					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D679D(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CACTTTCAATATCCTCCAAAT	0.388																																																2	Substitution - coding silent(2)	ovary(2)	2											33	34	34					2																	130833008		2100	4238	6338	130549478	SO:0001819	synonymous_variant	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2037T>C	2.37:g.130833008A>G			130549478	A6NC34	Silent	SNP	ENST00000409914.2	37	CCDS46409.1																																																																																				0.388	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		G	130833008	A	G	130833008	2	3	292	1	0	0	0	0	0	0	0	1	12265	446	16	4		4	POTEF	2	130833008	Silent	SNP	A	TCGA-25-1322-01A-01W-0494-09	81917655	130833008	112366365	5	16047											
GRB14	2888	genome.wustl.edu	37	2	165404236	165404236	+	Silent	SNP	G	G	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	A	G	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr2:165404236G>A	ENST00000263915.3	-	3	953	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	GRB14_ENST00000543549.1_Silent_p.L52L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	139	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.L139L(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGATTCTTCAGGATCAACAGC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	2											94	86	89					2																	165404236		2203	4300	6503	165112482	SO:0001819	synonymous_variant	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.415C>T	2.37:g.165404236G>A			165112482	B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	CCDS2222.1																																																																																				0.443	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			A	165404236	G	A	165404236	2	1	292	1	0	0	0	0	0	0	0	1	6757	991	35	2		2	GRB14	2	165404236	Silent	SNP	G	TCGA-25-1322-01A-01W-0494-09	34571228	165404236	77795137	6	16048											
TTN	7273	genome.wustl.edu	37	2	179482108	179482110	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	CTT	CTT	CTT	-	CTT	CTT	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr2:179482108_179482110delCTT	ENST00000591111.1	-	204	43003_43005	c.42779_42781delAAG	c.(42778-42783)gaagga>gga	p.E14260del	TTN_ENST00000342992.6_In_Frame_Del_p.E13333del|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.E7028del|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.E6961del|TTN_ENST00000460472.2_In_Frame_Del_p.E6836del|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E15901del|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14260	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATCTTTTCCTTCTTCGCATCG	0.389																																																0			2																																								179190355	SO:0001651	inframe_deletion	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42779_42781delAAG	2.37:g.179482111_179482113delCTT	ENSP00000465570:p.Glu14260del		179190353	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37																																																																																					0.389	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179482110	CTT	-	179482108	7	5	292	1	0	1	0	1	0	0	0	0	16735	690	24	0	60425	0	TTN	2	179482108	In_Frame_Del	DEL	CTT	TCGA-25-1322-01A-01W-0494-09	14077872	179482108	63717265	7	16049											
RPL37A	6168	genome.wustl.edu	37	2	217364707	217364707	+	Silent	SNP	C	C	T			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr2:217364707C>T	ENST00000491306.1	+	3	854	c.168C>T	c.(166-168)caC>caT	p.H56H	RPL37A_ENST00000446558.1_Silent_p.H56H|RPL37A_ENST00000600880.1_Silent_p.H56H|RPL37A_ENST00000427280.2_Silent_p.H32H|AC098820.3_ENST00000438978.1_RNA|RPL37A_ENST00000441179.2_Silent_p.H32H|RPL37A_ENST00000598925.1_Silent_p.H32H|AC098820.3_ENST00000453157.1_RNA|RPL37A_ENST00000456586.1_Silent_p.H32H	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	56					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.H56H(1)		NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATCTGGCACTGTGGTTCCT	0.463																																																1	Substitution - coding silent(1)	ovary(1)	2											128	124	125					2																	217364707		2203	4300	6503	217072952	SO:0001819	synonymous_variant	6168				CCDS2404.1	2q35	2011-04-06			ENSG00000197756	ENSG00000197756		"L ribosomal proteins"	10348	protein-coding gene	gene with protein product		613314				1437567	Standard	NM_000998		Approved	L37A	uc002vgf.3	P61513	OTTHUMG00000133052	ENST00000491306.1:c.168C>T	2.37:g.217364707C>T			217072952	P12751|Q6FGF5	Silent	SNP	ENST00000491306.1	37	CCDS2404.1																																																																																				0.463	RPL37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256665.2	NM_000998		T	217364707	C	T	217364707	2	4	292	1	0	0	0	0	0	0	0	1	13593	564	20	2		2	RPL37A	2	217364707	Silent	SNP	C	TCGA-25-1322-01A-01W-0494-09	37882599	217364707	25834666	8	16050											
DOCK10	55619	genome.wustl.edu	37	2	225669934	225669934	+	Missense_Mutation	SNP	G	G	A	rs368517297		TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr2:225669934G>A	ENST00000258390.7	-	36	4107	c.4040C>T	c.(4039-4041)aCg>aTg	p.T1347M	DOCK10_ENST00000409592.3_Missense_Mutation_p.T1341M	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1347					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1345M(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTACGAAATCGTTTTCATAAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2						G	MET/THR	0,3616		0,0,1808	100	95	97		4040	4.8	1	2		97	1,8129		0,1,4064	no	missense	DOCK10	NM_014689.2	81	0,1,5872	AA,AG,GG		0.0123,0.0,0.0085	possibly-damaging	1347/2187	225669934	1,11745	1808	4065	5873	225378178	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4040C>T	2.37:g.225669934G>A	ENSP00000258390:p.Thr1347Met		225378178	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.217|8.217	0.801642|0.801642	0.16397|0.16397	0.0|0.0	1.23E-4|1.23E-4	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.01767	.|4.65;4.65	5.74|5.74	4.85|4.85	0.62838|0.62838	.|.	.|0.103808	.|0.64402	.|D	.|0.000003	.|T	.|0.01156	.|0.0038	N|N	0.16790|0.16790	0.44|0.44	0.39483|0.39483	D|D	0.967917|0.967917	.|P;P;B;B	.|0.48350	.|0.909;0.669;0.397;0.122	.|B;B;B;B	.|0.33454	.|0.164;0.022;0.032;0.011	.|T	.|0.73981	.|-0.3811	.|10	.|0.29301	.|T	.|0.29	.|.	9.8094|9.8094	0.40812|0.40812	0.0693:0.0:0.7898:0.1409|0.0693:0.0:0.7898:0.1409	.|.	.|1347;201;1341;9	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	X|M	229|1341;1347	.|ENSP00000386694:T1341M;ENSP00000258390:T1347M	.|ENSP00000258390:T1347M	R|T	-|-	1|2	2|0	DOCK10|DOCK10	225378178|225378178	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.450000|0.450000	0.32258|0.32258	6.152000|6.152000	0.71812|0.71812	1.536000|1.536000	0.49237|0.49237	0.561000|0.561000	0.74099|0.74099	CGA|ACG		0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			A	225669934	G	A	225669934	3	1	292	1	0	0	0	0	1	0	0	0	4685	1145	40	1	2604	1	DOCK10	2	225669934	Missense_Mutation	SNP	G	TCGA-25-1322-01A-01W-0494-09	8305227	225669934	17529439	9	16051											
RAPGEF5	9771	genome.wustl.edu	37	7	22347969	22347969	+	Silent	SNP	G	G	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr7:22347969G>A	ENST00000405243.1	-	5	752	c.669C>T	c.(667-669)ggC>ggT	p.G223G	RAPGEF5_ENST00000344041.6_Silent_p.G70G			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G70G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GTTCACAGATGCCACCTCTGG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	7											64	60	61					7																	22347969		1937	4128	6065	22314494	SO:0001819	synonymous_variant	9771			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.669C>T	7.37:g.22347969G>A			22314494	A4D140|Q8IXU5	Silent	SNP	ENST00000405243.1	37																																																																																					0.398	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294		A	22347969	G	A	22347969	2	1	292	1	0	0	0	0	0	0	0	1	13050	1306	46	2		2	RAPGEF5	7	22347969	Silent	SNP	G	TCGA-25-1322-01A-01W-0494-09		22347969	136790694	10	16052											
PHTF2	57157	genome.wustl.edu	37	7	77552051	77552051	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr7:77552051C>T	ENST00000248550.7	+	10	1151	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	PHTF2_ENST00000422959.2_Missense_Mutation_p.R325W|PHTF2_ENST00000275575.7_Missense_Mutation_p.R321W|PHTF2_ENST00000424760.1_Missense_Mutation_p.R321W|PHTF2_ENST00000416283.2_Missense_Mutation_p.R325W|PHTF2_ENST00000450574.1_Missense_Mutation_p.R325W|PHTF2_ENST00000415251.2_Missense_Mutation_p.R321W|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Missense_Mutation_p.R321W			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R359W(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						AGGTGTTCTTCGGAATAGAAA	0.363																																																1	Substitution - Missense(1)	ovary(1)	7											63	60	61					7																	77552051		1858	4097	5955	77389987	SO:0001583	missense	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1075C>T	7.37:g.77552051C>T	ENSP00000248550:p.Arg359Trp		77389987	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	C	22.5	4.294932	0.81025	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.72	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	L	0.32530	0.975	0.58432	D	0.999999	B;D;D;D;D;D;D;B;D	0.89917	0.333;1.0;1.0;1.0;1.0;1.0;1.0;0.413;1.0	B;D;D;D;D;D;D;B;D	0.97110	0.061;0.999;0.999;0.998;0.994;1.0;0.989;0.093;0.999	T	0.66670	-0.5865	9	0.87932	D	0	-5.0602	9.7763	0.40621	0.1387:0.7909:0.0:0.0704	.	163;321;184;325;359;325;321;321;321	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;.;.;PHTF2_HUMAN;.;.;.;.	W	325;325;321;321;321;321;325;325;359	.	ENSP00000248550:R359W	R	+	1	2	PHTF2	77389987	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.725000	0.54970	1.423000	0.47198	0.655000	0.94253	CGG		0.363	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		T	77552051	C	T	77552051	3	4	292	1	0	0	0	0	1	0	0	0	11863	875	31	1	1007	1	PHTF2	7	77552051	Missense_Mutation	SNP	C	TCGA-25-1322-01A-01W-0494-09	55204082	77552051	81586612	11	16053											
KCND2	3751	genome.wustl.edu	37	7	119915105	119915105	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr7:119915105G>A	ENST00000331113.4	+	1	1384	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	140					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R140H(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TACAAGGATCGCAGGCGAGAG	0.607																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	7											94	98	96					7																	119915105		2203	4300	6503	119702341	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.419G>A	7.37:g.119915105G>A	ENSP00000333496:p.Arg140His		119702341	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675417	0.67928	.	.	ENSG00000184408	ENST00000331113	T	0.46451	0.87	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	M	0.62266	1.93	0.80722	D	1	P	0.40107	0.703	B	0.25506	0.061	T	0.35151	-0.9800	9	.	.	.	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	140	Q9NZV8	KCND2_HUMAN	H	140	ENSP00000333496:R140H	.	R	+	2	0	KCND2	119702341	1.000000	0.71417	0.929000	0.37066	0.952000	0.60782	8.062000	0.89475	2.709000	0.92574	0.655000	0.94253	CGC		0.607	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		A	119915105	G	A	119915105	3	1	292	1	0	0	0	0	1	0	0	0	8019	1087	38	1	421	1	KCND2	7	119915105	Missense_Mutation	SNP	G	TCGA-25-1322-01A-01W-0494-09	42363054	119915105	39223558	12	16054											
KIAA1797	54914	genome.wustl.edu	37	9	20715367	20715367	+	Silent	SNP	C	C	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr9:20715367C>A	ENST00000380249.1	+	4	379	c.15C>A	c.(13-15)atC>atA	p.I5I	FOCAD_ENST00000338382.6_Silent_p.I5I|MIR491_ENST00000384877.1_RNA	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	5						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.I5I(1)									CAGATGATATCAGGAAAAGGT	0.333																																																1	Substitution - coding silent(1)	ovary(1)	9											116	111	113					9																	20715367		2203	4300	6503	20705367	SO:0001819	synonymous_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.15C>A	9.37:g.20715367C>A			20705367	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	CCDS34993.1																																																																																				0.333	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		A	20715367	C	A	20715367	2	1	292	1	0	0	0	0	0	0	0	1	8258	816	29	3		3	KIAA1797	9	20715367	Silent	SNP	C	TCGA-25-1322-01A-01W-0494-09		20715367	120498064	13	16055											
AGTPBP1	23287	genome.wustl.edu	37	9	88287523	88287523	+	Silent	SNP	C	C	T			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr9:88287523C>T	ENST00000357081.3	-	7	654	c.510G>A	c.(508-510)ttG>ttA	p.L170L	AGTPBP1_ENST00000376081.4_Silent_p.L170L|AGTPBP1_ENST00000337006.4_Silent_p.L112L|AGTPBP1_ENST00000376083.3_Silent_p.L170L|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Silent_p.L112L|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.L222L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	170					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.L170L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GATGATTCTGCAAATTCTGCT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	9											98	98	98					9																	88287523		2203	4300	6503	87477343	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.510G>A	9.37:g.88287523C>T			87477343	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37																																																																																					0.343	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		T	88287523	C	T	88287523	2	4	292	1	0	0	0	0	0	0	0	1	400	709	25	2		2	AGTPBP1	9	88287523	Silent	SNP	C	TCGA-25-1322-01A-01W-0494-09	67572156	88287523	52925908	14	16056											
DAPK1	1612	genome.wustl.edu	37	9	90312052	90312052	+	Silent	SNP	C	C	T			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr9:90312052C>T	ENST00000408954.3	+	22	2879	c.2544C>T	c.(2542-2544)atC>atT	p.I848I	DAPK1_ENST00000358077.5_Silent_p.I848I|DAPK1_ENST00000491893.1_Intron|DAPK1_ENST00000472284.1_Silent_p.I848I|DAPK1_ENST00000469640.2_Silent_p.I848I	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	848					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I849I(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCTATGAGATCCAGCTGAACC	0.458									Chronic Lymphocytic Leukemia, Familial Clustering of																																							1	Substitution - coding silent(1)	ovary(1)	9											173	162	166					9																	90312052		1904	4137	6041	89501872	SO:0001819	synonymous_variant	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2544C>T	9.37:g.90312052C>T			89501872	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																				0.458	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		T	90312052	C	T	90312052	2	4	292	1	0	0	0	0	0	0	0	1	4235	845	30	2		2	DAPK1	9	90312052	Silent	SNP	C	TCGA-25-1322-01A-01W-0494-09	2024529	90312052	50901379	15	16057											
AKNA	80709	genome.wustl.edu	37	9	117139670	117139670	+	Silent	SNP	C	C	T			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr9:117139670C>T	ENST00000307564.4	-	3	578	c.417G>A	c.(415-417)gaG>gaA	p.E139E	AKNA_ENST00000374088.3_Silent_p.E139E|AKNA_ENST00000374075.5_Silent_p.E58E|AKNA_ENST00000312033.3_Silent_p.E139E|AKNA_ENST00000223791.3_5'Flank	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	139					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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 positive regulation of transcription (GO:0001077)	p.E139E(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TTGAGGAGCTCTCTCCAGCCT	0.627																																																1	Substitution - coding silent(1)	ovary(1)	9											41	38	39					9																	117139670		2203	4300	6503	116179491	SO:0001819	synonymous_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.417G>A	9.37:g.117139670C>T			116179491	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	CCDS6805.1																																																																																				0.627	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		T	117139670	C	T	117139670	2	4	292	1	0	0	0	0	0	0	0	1	463	912	32	2		2	AKNA	9	117139670	Silent	SNP	C	TCGA-25-1322-01A-01W-0494-09	26827618	117139670	24073761	16	16058											
UAP1L1	91373	genome.wustl.edu	37	9	139976466	139976466	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr9:139976466G>A	ENST00000409858.3	+	8	1413	c.1381G>A	c.(1381-1383)Gac>Aac	p.D461N	UAP1L1_ENST00000360271.3_Missense_Mutation_p.D338N	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	461							uridylyltransferase activity (GO:0070569)	p.D338N(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCCAAATGGAGACCCTCCGGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	9											193	181	185					9																	139976466		2203	4300	6503	139096287	SO:0001583	missense	91373			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1381G>A	9.37:g.139976466G>A	ENSP00000386935:p.Asp461Asn		139096287	A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558459	0.27827	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.17691	2.26;2.26	4.06	2.88	0.33553	.	0.425646	0.26688	N	0.023001	T	0.12263	0.0298	N	0.19112	0.55	0.35747	D	0.819112	B;B	0.14012	0.009;0.002	B;B	0.25140	0.058;0.005	T	0.14839	-1.0458	10	0.62326	D	0.03	.	11.6632	0.51358	0.1091:0.0:0.8909:0.0	.	461;338	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	N	461;338	ENSP00000386935:D461N;ENSP00000353409:D338N	ENSP00000353409:D338N	D	+	1	0	UAP1L1	139096287	1.000000	0.71417	0.914000	0.36105	0.445000	0.32107	3.066000	0.50002	1.803000	0.52742	0.561000	0.74099	GAC		0.572	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		A	139976466	G	A	139976466	3	1	292	1	0	0	0	0	1	0	0	0	16826	942	33	2	1411	2	UAP1L1	9	139976466	Missense_Mutation	SNP	G	TCGA-25-1322-01A-01W-0494-09	22836796	139976466	1236965	17	16059											
CAMK1D	57118	genome.wustl.edu	37	10	12858300	12858300	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr10:12858300C>T	ENST00000378847.3	+	8	1143	c.806C>T	c.(805-807)aCg>aTg	p.T269M	CAMK1D_ENST00000378845.1_Missense_Mutation_p.T269M	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.T269M(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		AAAAGATACACGTGTGAGCAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											85	78	80					10																	12858300		2203	4300	6503	12898306	SO:0001583	missense	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.806C>T	10.37:g.12858300C>T	ENSP00000368124:p.Thr269Met		12898306	B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797766	0.90538	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.50548	0.74;0.74	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048926	0.85682	D	0.000000	T	0.76948	0.4059	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70487	0.947;0.969	T	0.82814	-0.0271	10	0.87932	D	0	-21.8846	17.4922	0.87707	0.0:1.0:0.0:0.0	.	269;269	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	M	269	ENSP00000368124:T269M;ENSP00000368122:T269M	ENSP00000368122:T269M	T	+	2	0	CAMK1D	12898306	1.000000	0.71417	0.963000	0.40424	0.955000	0.61496	7.471000	0.80985	2.724000	0.93272	0.561000	0.74099	ACG		0.507	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		T	12858300	C	T	12858300	3	4	292	1	0	0	0	0	1	0	0	0	2597	536	19	1	836	1	CAMK1D	10	12858300	Missense_Mutation	SNP	C	TCGA-25-1322-01A-01W-0494-09		12858300	122676447	18	16060											
FIBP	9158	genome.wustl.edu	37	11	65651944	65651944	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr11:65651944C>T	ENST00000338369.2	-	9	1056	c.944G>A	c.(943-945)cGc>cAc	p.R315H	FIBP_ENST00000533045.1_Silent_p.P300P|FIBP_ENST00000426652.2_5'Flank|FIBP_ENST00000357519.4_Missense_Mutation_p.R308H	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	315					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)	p.R315H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GTGGTCGGAGCGGCAGGGTTC	0.587											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											54	54	54					11																	65651944		2201	4296	6497	65408520	SO:0001583	missense	9158			AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.944G>A	11.37:g.65651944C>T	ENSP00000344572:p.Arg315His	1085	65408520	A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	ENST00000338369.2	37	CCDS8119.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556363	0.86231	.	.	ENSG00000172500	ENST00000338369;ENST00000357519	T;T	0.28255	1.62;1.62	3.77	3.77	0.43336	.	0.138704	0.48286	D	0.000198	T	0.45478	0.1344	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.61874	0.835;0.895	T	0.45026	-0.9289	10	0.87932	D	0	-13.8139	7.3392	0.26627	0.0:0.8813:0.0:0.1187	.	308;315	O43427-2;O43427	.;FIBP_HUMAN	H	315;308	ENSP00000344572:R315H;ENSP00000350124:R308H	ENSP00000344572:R315H	R	-	2	0	FIBP	65408520	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.377000	0.44300	2.120000	0.65058	0.561000	0.74099	CGC		0.587	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		T	65651944	C	T	65651944	3	4	292	1	0	0	0	0	1	0	0	0	5886	768	27	1	158	1	FIBP	11	65651944	Missense_Mutation	SNP	C	TCGA-25-1322-01A-01W-0494-09		65651944	69354572	19	16061											
PYROXD1	79912	genome.wustl.edu	37	12	21615759	21615759	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr12:21615759G>C	ENST00000240651.9	+	10	1133	c.1079G>C	c.(1078-1080)tGt>tCt	p.C360S	PYROXD1_ENST00000538582.1_Missense_Mutation_p.C289S	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	360							oxidoreductase activity (GO:0016491)	p.C360S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GGTGACATCTGTACTACATCC	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											96	82	87					12																	21615759		2203	4300	6503	21507026	SO:0001583	missense	79912			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.1079G>C	12.37:g.21615759G>C	ENSP00000240651:p.Cys360Ser		21507026	A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	37	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038380	0.75617	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	T;T	0.43688	0.94;0.94	4.72	4.72	0.59763	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	M	0.77712	2.385	0.80722	D	1	D	0.62365	0.991	D	0.70016	0.967	T	0.66716	-0.5853	9	.	.	.	.	15.2327	0.73404	0.0:0.0:1.0:0.0	.	360	Q8WU10	PYRD1_HUMAN	S	66;360;289	ENSP00000240651:C360S;ENSP00000438505:C289S	.	C	+	2	0	PYROXD1	21507026	1.000000	0.71417	0.996000	0.52242	0.764000	0.43329	8.751000	0.91628	2.337000	0.79520	0.655000	0.94253	TGT		0.428	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		C	21615759	G	C	21615759	3	2	292	1	0	0	0	0	1	0	0	0	12869	1377	48	3	1117	3	PYROXD1	12	21615759	Missense_Mutation	SNP	G	TCGA-25-1322-01A-01W-0494-09		21615759	112236136	20	16062											
KIF21A	55605	genome.wustl.edu	37	12	39695437	39695437	+	Silent	SNP	C	C	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr12:39695437C>A	ENST00000361418.5	-	37	4791	c.4776G>T	c.(4774-4776)gtG>gtT	p.V1592V	KIF21A_ENST00000361961.3_Silent_p.V1579V|KIF21A_ENST00000541463.2_Silent_p.V1539V|KIF21A_ENST00000544797.2_Silent_p.V1555V|KIF21A_ENST00000395670.3_Silent_p.V1593V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1592					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1579V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGTCTGGCACCACTCCCAGGG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	12											134	138	137					12																	39695437		2203	4300	6503	37981704	SO:0001819	synonymous_variant	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4776G>T	12.37:g.39695437C>A			37981704	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	6.071	0.381317	0.11466	.	.	ENSG00000139116	ENST00000552961	.	.	.	4.43	3.54	0.40534	.	.	.	.	.	T	0.57902	0.2085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51325	-0.8720	4	.	.	.	.	8.3139	0.32088	0.0:0.7135:0.1315:0.1549	.	.	.	.	L	893	.	.	W	-	2	0	KIF21A	37981704	0.983000	0.35010	0.992000	0.48379	0.885000	0.51271	0.720000	0.25896	0.509000	0.28195	-0.813000	0.03139	TGG		0.463	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		A	39695437	C	A	39695437	2	1	292	1	0	0	0	0	0	0	0	1	8288	581	21	3		3	KIF21A	12	39695437	Silent	SNP	C	TCGA-25-1322-01A-01W-0494-09	18079678	39695437	94156458	21	16063											
AQP2	359	genome.wustl.edu	37	12	50344952	50344952	+	Silent	SNP	C	C	T	rs144253988		TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	T	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr12:50344952C>T	ENST00000199280.3	+	1	424	c.339C>T	c.(337-339)cgC>cgT	p.R113R	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	113					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.R113R(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CAGACATCCGCGGGGACCTGG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	12						C		1,4401		0,1,2200	17	18	18		339	-9.4	0	12	dbSNP_134	18	0,8594		0,0,4297	no	coding-synonymous	AQP2	NM_000486.5		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		113/272	50344952	1,12995	2201	4297	6498	48631219	SO:0001819	synonymous_variant	100131403				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.339C>T	12.37:g.50344952C>T			48631219	Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	CCDS8792.1																																																																																				0.622	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		T	50344952	C	T	50344952	2	4	292	1	0	0	0	0	0	0	0	1	826	755	27	1		1	AQP2	12	50344952	Silent	SNP	C	TCGA-25-1322-01A-01W-0494-09	10649515	50344952	83506943	22	16064											
SCN8A	6334	genome.wustl.edu	37	12	52100321	52100321	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr12:52100321A>G	ENST00000354534.6	+	11	1635	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	SCN8A_ENST00000550891.1_Missense_Mutation_p.K486R|SCN8A_ENST00000545061.1_Missense_Mutation_p.K486R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	486					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.K486R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTCAGCTCAAAGAGTGCAAAG	0.483																																																1	Substitution - Missense(1)	ovary(1)	12											29	27	28					12																	52100321		1837	4086	5923	50386588	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1457A>G	12.37:g.52100321A>G	ENSP00000346534:p.Lys486Arg		50386588	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091426	0.76756	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	4.3	4.3	0.51218	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	M	0.79805	2.47	0.58432	D	0.999998	B;D;B;D	0.76494	0.143;0.991;0.229;0.999	B;D;B;D	0.81914	0.081;0.931;0.081;0.995	D	0.94236	0.7481	10	0.39692	T	0.17	.	13.9164	0.63899	1.0:0.0:0.0:0.0	.	486;486;486;486	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	R	486;486;486;486;399;284	ENSP00000448415:K486R;ENSP00000346534:K486R;ENSP00000440360:K486R;ENSP00000347255:K486R;ENSP00000447567:K284R	ENSP00000346534:K486R	K	+	2	0	SCN8A	50386588	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.139000	0.94554	1.935000	0.56089	0.379000	0.24179	AAG		0.483	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		G	52100321	A	G	52100321	3	3	292	1	0	0	0	0	1	0	0	0	13927	72	3	4	1495	4	SCN8A	12	52100321	Missense_Mutation	SNP	A	TCGA-25-1322-01A-01W-0494-09	1755369	52100321	81751574	23	16065											
OR10A7	121364	genome.wustl.edu	37	12	55615678	55615678	+	Silent	SNP	C	C	T	rs375889018		TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr12:55615678C>T	ENST00000326258.1	+	1	870	c.870C>T	c.(868-870)taC>taT	p.Y290Y		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290Y(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCATCATCTACGGCCTGAGGA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	12						C		0,4406		0,0,2203	85	74	77		870	-0.2	1	12		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10A7	NM_001005280.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		290/317	55615678	1,13005	2203	4300	6503	53901945	SO:0001819	synonymous_variant	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.870C>T	12.37:g.55615678C>T			53901945	Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	CCDS31815.1																																																																																				0.448	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			T	55615678	C	T	55615678	2	4	292	1	0	0	0	0	0	0	0	1	10895	547	19	1		1	OR10A7	12	55615678	Silent	SNP	C	TCGA-25-1322-01A-01W-0494-09	3515357	55615678	78236217	24	16066											
NAV3	89795	genome.wustl.edu	37	12	78516137	78516137	+	Silent	SNP	G	G	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr12:78516137G>A	ENST00000397909.2	+	16	4340	c.4167G>A	c.(4165-4167)ctG>ctA	p.L1389L	NAV3_ENST00000228327.6_Silent_p.L1389L|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Silent_p.L1389L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1389	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.L1389L(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTCTGGACTGACCACAGGCA	0.542										HNSCC(70;0.22)																																						1	Substitution - coding silent(1)	ovary(1)	12											116	107	110					12																	78516137		2026	4189	6215	77040268	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4167G>A	12.37:g.78516137G>A			77040268	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37																																																																																					0.542	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78516137	G	A	78516137	2	1	292	1	0	0	0	0	0	0	0	1	10185	1277	45	2		2	NAV3	12	78516137	Silent	SNP	G	TCGA-25-1322-01A-01W-0494-09	22900459	78516137	55335758	25	16067											
STOML3	161003	genome.wustl.edu	37	13	39541003	39541003	+	Missense_Mutation	SNP	C	C	T	rs533210440		TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr13:39541003C>T	ENST00000379631.4	-	7	1179	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	STOML3_ENST00000423210.1_Missense_Mutation_p.V270I	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	279					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.V279I(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCATAGCTGACGCCACCAATG	0.493													C|||	1	0.000199681	8e-04	0	5008	,	,		18002	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	13											99	96	97					13																	39541003		2203	4300	6503	38439003	SO:0001583	missense	161003			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.835G>A	13.37:g.39541003C>T	ENSP00000368952:p.Val279Ile		38439003	B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	C	5.870	0.344639	0.11126	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.98437	-4.92;-4.93	5.16	-10.3	0.00346	.	0.538720	0.20842	N	0.084682	D	0.89199	0.6647	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.76613	-0.2895	10	0.16896	T	0.51	-9.5721	13.9834	0.64319	0.0:0.5308:0.0:0.4692	.	270;279	B4E285;Q8TAV4	.;STML3_HUMAN	I	279;270	ENSP00000368952:V279I;ENSP00000401989:V270I	ENSP00000368952:V279I	V	-	1	0	STOML3	38439003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.308000	0.02730	-2.167000	0.00779	-1.106000	0.02097	GTC		0.493	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			T	39541003	C	T	39541003	3	4	292	1	0	0	0	0	1	0	0	0	15317	536	19	1	44	1	STOML3	13	39541003	Missense_Mutation	SNP	C	TCGA-25-1322-01A-01W-0494-09		39541003	75628875	26	16068											
DGKH	160851	genome.wustl.edu	37	13	42793919	42793919	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr13:42793919G>A	ENST00000337343.4	+	28	3452	c.3431G>A	c.(3430-3432)aGt>aAt	p.S1144N	DGKH_ENST00000538674.1_Missense_Mutation_p.S899N|DGKH_ENST00000536612.1_Missense_Mutation_p.S1008N|DGKH_ENST00000379274.2_Missense_Mutation_p.S1008N|DGKH_ENST00000261491.5_Missense_Mutation_p.S1144N|DGKH_ENST00000540693.1_Missense_Mutation_p.S1144N|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1144					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.S1144N(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGAAGACAAGTTCACAGCCT	0.408																																																1	Substitution - Missense(1)	ovary(1)	13											59	51	54					13																	42793919		2203	4300	6503	41691919	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3431G>A	13.37:g.42793919G>A	ENSP00000337572:p.Ser1144Asn		41691919	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.105719	0.56291	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.80123	-1.33;-1.16;-1.33;-1.34;-1.34;1.91	5.44	5.44	0.79542	.	0.147857	0.64402	D	0.000009	D	0.87450	0.6180	L	0.52364	1.645	0.47819	D	0.999525	D;B;D;B	0.71674	0.998;0.004;0.996;0.004	D;B;D;B	0.80764	0.994;0.008;0.914;0.004	D	0.85858	0.1408	10	0.40728	T	0.16	.	19.6384	0.95746	0.0:0.0:1.0:0.0	.	899;1008;1144;1144	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	N	1144;1144;1144;1008;1008;899	ENSP00000440823:S1144N;ENSP00000337572:S1144N;ENSP00000261491:S1144N;ENSP00000368576:S1008N;ENSP00000445114:S1008N;ENSP00000441308:S899N	ENSP00000261491:S1144N	S	+	2	0	DGKH	41691919	1.000000	0.71417	0.884000	0.34674	0.991000	0.79684	6.951000	0.75983	2.703000	0.92315	0.655000	0.94253	AGT		0.408	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		A	42793919	G	A	42793919	3	1	292	1	0	0	0	0	1	0	0	0	4470	1029	36	2	3541	2	DGKH	13	42793919	Missense_Mutation	SNP	G	TCGA-25-1322-01A-01W-0494-09	3252916	42793919	72375959	27	16069											
SLITRK5	26050	genome.wustl.edu	37	13	88329445	88329445	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr13:88329445C>A	ENST00000325089.6	+	2	2021	c.1802C>A	c.(1801-1803)aCc>aAc	p.T601N	SLITRK5_ENST00000400028.3_Missense_Mutation_p.T360N	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	601	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.T601N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTCGCTGAGACCGACATGCGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	13											169	152	158					13																	88329445		2203	4300	6503	87127446	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1802C>A	13.37:g.88329445C>A	ENSP00000366283:p.Thr601Asn		87127446	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	4.064	0.009749	0.07912	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.52983	0.64;0.71	5.47	3.73	0.42828	Cysteine-rich flanking region, C-terminal (1);	0.433164	0.24130	N	0.041274	T	0.28134	0.0694	N	0.24115	0.695	0.28421	N	0.917737	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.15206	-1.0445	9	.	.	.	-4.2483	5.3863	0.16220	0.1601:0.6701:0.0:0.1698	.	360;601	B4DSH5;O94991	.;SLIK5_HUMAN	N	601;360	ENSP00000366283:T601N;ENSP00000442244:T360N	.	T	+	2	0	SLITRK5	87127446	0.752000	0.28338	0.892000	0.35008	0.973000	0.67179	1.311000	0.33562	0.659000	0.30945	0.555000	0.69702	ACC		0.557	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			A	88329445	C	A	88329445	3	1	292	1	0	0	0	0	1	0	0	0	14749	507	18	3	1804	3	SLITRK5	13	88329445	Missense_Mutation	SNP	C	TCGA-25-1322-01A-01W-0494-09	45535526	88329445	26840433	28	16070											
MYO16	23026	genome.wustl.edu	37	13	109540816	109540816	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr13:109540816A>T	ENST00000357550.2	+	13	1625	c.1584A>T	c.(1582-1584)agA>agT	p.R528S	MYO16_ENST00000457511.2_Missense_Mutation_p.R40S|MYO16_ENST00000356711.2_Missense_Mutation_p.R528S|MYO16_ENST00000251041.5_Missense_Mutation_p.R528S	NM_001198950.1	NP_001185879.1			myosin XVI									p.R528S(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGGATTCCAGATTCAAACATG	0.443																																																1	Substitution - Missense(1)	ovary(1)	13											57	64	62					13																	109540816		2203	4300	6503	108338817	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1584A>T	13.37:g.109540816A>T	ENSP00000350160:p.Arg528Ser		108338817		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813518	0.32053	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.18	0.245	0.15512	Myosin head, motor domain (2);	0.165663	0.26578	U	0.023595	D	0.86418	0.5928	M	0.72479	2.2	0.28502	N	0.913957	P;B;P	0.42556	0.73;0.348;0.783	B;B;P	0.46796	0.167;0.108;0.527	T	0.79838	-0.1634	9	.	.	.	.	8.8428	0.35153	0.5156:0.0:0.4844:0.0	.	40;528;528	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	S	528;528;528;528;316;40	ENSP00000349145:R528S;ENSP00000350160:R528S;ENSP00000251041:R528S;ENSP00000401633:R40S	.	R	+	3	2	MYO16	108338817	0.997000	0.39634	0.132000	0.22025	0.233000	0.25261	0.440000	0.21592	-0.128000	0.11641	0.533000	0.62120	AGA		0.443	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		T	109540816	A	T	109540816	3	4	292	1	0	0	0	0	1	0	0	0	10064	330	12	5	1634	5	MYO16	13	109540816	Missense_Mutation	SNP	A	TCGA-25-1322-01A-01W-0494-09	21211371	109540816	5629062	29	16071											
C15orf33	196951	genome.wustl.edu	37	15	49833998	49833998	+	Silent	SNP	A	A	G	rs190343255		TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr15:49833998A>G	ENST00000299338.6	-	10	1056	c.753T>C	c.(751-753)taT>taC	p.Y251Y	FAM227B_ENST00000561064.1_Silent_p.Y217Y	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	251								p.Y251Y(1)									AACAATCAGGATATATCTACC	0.269													A|||	1	0.000199681	0	0	5008	,	,		11238	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	15						A		0,4388		0,0,2194	57	60	59		753	0.9	0.9	15		59	3,8573		0,3,4285	no	coding-synonymous	C15orf33	NM_152647.2		0,3,6479	GG,GA,AA		0.035,0.0,0.0231		251/509	49833998	3,12961	2194	4288	6482	47621290	SO:0001819	synonymous_variant	196951				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.753T>C	15.37:g.49833998A>G			47621290	Q86WS2	Silent	SNP	ENST00000299338.6	37	CCDS32237.1																																																																																				0.269	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		G	49833998	A	G	49833998	2	3	292	1	0	0	0	0	0	0	0	1	1791	340	12	4		4	C15orf33	15	49833998	Silent	SNP	A	TCGA-25-1322-01A-01W-0494-09		49833998	52697394	30	16072											
UNC13C	440279	genome.wustl.edu	37	15	54860143	54860143	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr15:54860143A>C	ENST00000260323.11	+	29	6104	c.6104A>C	c.(6103-6105)cAg>cCg	p.Q2035P	UNC13C_ENST00000545554.1_Missense_Mutation_p.Q2035P|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q2033P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2035					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.Q2035P(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAACCTCACAGAGTAAGTAA	0.328																																																1	Substitution - Missense(1)	ovary(1)	15											54	48	50					15																	54860143		1799	4064	5863	52647435	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6104A>C	15.37:g.54860143A>C	ENSP00000260323:p.Gln2035Pro		52647435	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339282	0.81911	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82255	-1.58;-1.58;-1.59	5.81	5.81	0.92471	.	0.176829	0.51477	D	0.000091	T	0.80199	0.4579	L	0.49513	1.565	0.80722	D	1	P	0.34546	0.456	B	0.33568	0.166	T	0.81470	-0.0918	10	0.87932	D	0	.	15.3427	0.74311	1.0:0.0:0.0:0.0	.	2035	Q8NB66	UN13C_HUMAN	P	2035;2035;2033	ENSP00000260323:Q2035P;ENSP00000438156:Q2035P;ENSP00000442569:Q2033P	ENSP00000260323:Q2035P	Q	+	2	0	UNC13C	52647435	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.273000	0.95719	2.218000	0.71995	0.377000	0.23210	CAG		0.328	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54860143	A	C	54860143	3	2	292	1	0	0	0	0	1	0	0	0	16986	188	7	5	6214	5	UNC13C	15	54860143	Missense_Mutation	SNP	A	TCGA-25-1322-01A-01W-0494-09	5026145	54860143	47671249	31	16073											
MNS1	55329	genome.wustl.edu	37	15	56721366	56721366	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr15:56721366A>G	ENST00000260453.3	-	10	1585	c.1421T>C	c.(1420-1422)aTt>aCt	p.I474T	TEX9_ENST00000537232.1_Intron|MNS1_ENST00000566386.1_5'UTR|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	474					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.I474T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AAGCAGATCAATATCATCCTC	0.313																																																1	Substitution - Missense(1)	ovary(1)	15											96	91	93					15																	56721366		2191	4285	6476	54508658	SO:0001583	missense	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.1421T>C	15.37:g.56721366A>G	ENSP00000260453:p.Ile474Thr		54508658	Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929003	0.52759	.	.	ENSG00000138587	ENST00000260453	T	0.14640	2.49	6.08	6.08	0.98989	.	0.672261	0.15854	N	0.241362	T	0.14570	0.0352	L	0.44542	1.39	0.32864	D	0.508349	B	0.32245	0.361	B	0.25140	0.058	T	0.09037	-1.0693	10	0.59425	D	0.04	-1.9293	15.8323	0.78764	1.0:0.0:0.0:0.0	.	474	Q8NEH6	MNS1_HUMAN	T	474	ENSP00000260453:I474T	ENSP00000260453:I474T	I	-	2	0	MNS1	54508658	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	6.099000	0.71466	2.333000	0.79357	0.482000	0.46254	ATT		0.313	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		G	56721366	A	G	56721366	3	3	292	1	0	0	0	0	1	0	0	0	9677	101	4	4	70	4	MNS1	15	56721366	Missense_Mutation	SNP	A	TCGA-25-1322-01A-01W-0494-09	1861223	56721366	45810026	32	16074											
MT1M	4499	genome.wustl.edu	37	16	56667260	56667260	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr16:56667260T>C	ENST00000379818.3	+	2	536	c.37T>C	c.(37-39)Tgc>Cgc	p.C13R	AC026461.1_ENST00000600389.1_5'Flank|MT1JP_ENST00000564564.1_RNA	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	13	Beta.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.C13R(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						AGGTGTCTCCTGCGCCTGCAC	0.572																																																1	Substitution - Missense(1)	ovary(1)	16											107	108	108					16																	56667260		2196	4300	6496	55224761	SO:0001583	missense	4499			AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"Metallothioneins"	14296	protein-coding gene	gene with protein product		156357	"metallothionein 1K"	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.37T>C	16.37:g.56667260T>C	ENSP00000369146:p.Cys13Arg		55224761	Q8TDN3	Missense_Mutation	SNP	ENST00000379818.3	37	CCDS42166.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.279801	0.40294	.	.	ENSG00000205364	ENST00000379818	T	0.27402	1.67	2.66	1.44	0.22558	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000003	T	0.22859	0.0552	.	.	.	0.80722	D	1	B	0.29909	0.261	B	0.31812	0.136	T	0.05500	-1.0881	9	0.72032	D	0.01	.	4.8639	0.13598	0.0:0.1609:0.0:0.8391	.	13	Q8N339	MT1M_HUMAN	R	13	ENSP00000369146:C13R	ENSP00000369146:C13R	C	+	1	0	MT1M	55224761	1.000000	0.71417	0.398000	0.26321	0.008000	0.06430	1.917000	0.39996	0.208000	0.20626	0.378000	0.23410	TGC		0.572	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	NM_176870		C	56667260	T	C	56667260	3	2	292	1	0	0	0	0	1	0	0	0	9903	1580	55	4	43	4	MT1M	16	56667260	Missense_Mutation	SNP	T	TCGA-25-1322-01A-01W-0494-09		56667260	33687493	33	16075											
LRRC50	123872	genome.wustl.edu	37	16	84188224	84188224	+	Missense_Mutation	SNP	G	G	A	rs371065429		TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr16:84188224G>A	ENST00000378553.5	+	4	519	c.395G>A	c.(394-396)cGc>cAc	p.R132H	DNAAF1_ENST00000334315.5_Missense_Mutation_p.R132H	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	132					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.R132H(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACAGGGCTGCGCTGTCTCTGG	0.498																																																1	Substitution - Missense(1)	ovary(1)	16											100	95	97					16																	84188224		2200	4300	6500	82745725	SO:0001583	missense	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.395G>A	16.37:g.84188224G>A	ENSP00000367815:p.Arg132His		82745725	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724081	0.68959	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.24538	1.85;1.85	4.99	4.99	0.66335	.	0.060211	0.64402	D	0.000017	T	0.45994	0.1370	M	0.68952	2.095	0.37074	D	0.898659	D	0.89917	1.0	D	0.77004	0.989	T	0.54642	-0.8263	10	0.72032	D	0.01	-15.3567	9.7038	0.40203	0.146:0.0:0.854:0.0	.	132	Q8NEP3	DAAF1_HUMAN	H	132	ENSP00000334593:R132H;ENSP00000367815:R132H	ENSP00000334593:R132H	R	+	2	0	DNAAF1	82745725	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.759000	0.55227	2.306000	0.77630	0.650000	0.86243	CGC		0.498	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		A	84188224	G	A	84188224	3	1	292	1	0	0	0	0	1	0	0	0	9009	1087	38	1	409	1	LRRC50	16	84188224	Missense_Mutation	SNP	G	TCGA-25-1322-01A-01W-0494-09	27520964	84188224	6166529	34	16076											
TP53	7157	genome.wustl.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_III	PCR	454_PCR_WGA		dbGAP	ABI 3730xl	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		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"	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	17											136	121	126					17																	7578235		2203	4300	6503	7518960	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.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys		7518960	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	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	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	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578235	T	C	7578235	3	2	292	1	0	0	0	0	1	0	0	0	16381	1406	49	4	680	4	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-25-1322-01A-01W-0494-09		7578235	73616975	35	16077											
SYNRG	11276	genome.wustl.edu	37	17	35902214	35902214	+	Missense_Mutation	SNP	G	G	A	rs143632042		TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr17:35902214G>A	ENST00000339208.6	-	15	3202	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	SYNRG_ENST00000591288.1_Missense_Mutation_p.S815L|SYNRG_ENST00000585472.1_Missense_Mutation_p.S942L|SYNRG_ENST00000345615.4_Missense_Mutation_p.S943L|SYNRG_ENST00000502449.2_Missense_Mutation_p.S898L|SYNRG_ENST00000394378.2_Missense_Mutation_p.S943L|SYNRG_ENST00000346661.4_Missense_Mutation_p.S1021L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1021					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.S1021L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAAGTCATCCGAACATTCGTT	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		18187	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	17						G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	83	88	87		2828,2825,2693,2444,3062,2828,2828	4.1	0	17	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	SYNRG	NM_001163544.1,NM_001163545.1,NM_001163546.1,NM_001163547.1,NM_007247.4,NM_080550.3,NM_198882.1	145,145,145,145,145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	943/1237,942/1236,898/1180,815/1109,1021/1315,943/1225,943/1260	35902214	1,13005	2203	4300	6503	32976327	SO:0001583	missense	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3062C>T	17.37:g.35902214G>A	ENSP00000343610:p.Ser1021Leu		32976327	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443458	0.43429	0.0	1.16E-4	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.46819	1.43;0.86	6.02	4.05	0.47172	.	0.768902	0.12751	N	0.442179	T	0.37839	0.1018	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.002;0.002;0.002;0.003;0.003	B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.004;0.002;0.002	T	0.28933	-1.0028	10	0.52906	T	0.07	0.0377	10.606	0.45394	0.1456:0.0:0.8544:0.0	.	815;943;943;943;1021;1021	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	L	1021;815;1021;943;943	ENSP00000005279:S1021L;ENSP00000377903:S943L	ENSP00000343610:S815L	S	-	2	0	SYNRG	32976327	0.208000	0.23494	0.031000	0.17742	0.968000	0.65278	2.996000	0.49449	0.884000	0.36064	0.650000	0.86243	TCG		0.483	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		A	35902214	G	A	35902214	3	1	292	1	0	0	0	0	1	0	0	0	15460	1059	37	1	987	1	SYNRG	17	35902214	Missense_Mutation	SNP	G	TCGA-25-1322-01A-01W-0494-09	28323979	35902214	45292996	36	16078											
CDK12	51755	genome.wustl.edu	37	17	37667817	37667817	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr17:37667817A>G	ENST00000447079.4	+	8	2735	c.2702A>G	c.(2701-2703)tAc>tGc	p.Y901C	CDK12_ENST00000430627.2_Missense_Mutation_p.Y901C	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	901	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.Y901C(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACTTTGTGGTACCGACCTCCA	0.383			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Missense(1)	ovary(1)	17											123	118	119					17																	37667817		2203	4300	6503	34921343	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2702A>G	17.37:g.37667817A>G	ENSP00000398880:p.Tyr901Cys		34921343	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.484148	0.63962	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.71817	-0.6;-0.6	5.07	5.07	0.68467	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	0.40302	N	0.001134	D	0.88934	0.6572	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92473	0.5987	10	0.87932	D	0	-7.2054	15.122	0.72450	1.0:0.0:0.0:0.0	.	900;901;901	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	C	901	ENSP00000407720:Y901C;ENSP00000398880:Y901C	ENSP00000407720:Y901C	Y	+	2	0	CDK12	34921343	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.167000	0.94773	2.039000	0.60335	0.454000	0.30748	TAC		0.383	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		G	37667817	A	G	37667817	3	3	292	1	0	0	0	0	1	0	0	0	3128	391	14	4	2732	4	CDK12	17	37667817	Missense_Mutation	SNP	A	TCGA-25-1322-01A-01W-0494-09	1765603	37667817	43527393	37	16079											
MUC16	94025	genome.wustl.edu	37	19	9075296	9075296	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	T	T	A	T	T	T	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr19:9075296T>A	ENST00000397910.4	-	3	12353	c.12150A>T	c.(12148-12150)gaA>gaT	p.E4050D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4052	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E4050D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGGTAATTTCTGTTCTAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											152	139	143					19																	9075296		1923	4123	6046	8936296	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12150A>T	19.37:g.9075296T>A	ENSP00000381008:p.Glu4050Asp		8936296	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	7.785	0.710247	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	2.23	-2.88	0.05682	.	.	.	.	.	T	0.01800	0.0057	N	0.22421	0.69	.	.	.	B	0.28713	0.22	B	0.20184	0.028	T	0.43507	-0.9387	8	0.87932	D	0	.	2.3664	0.04320	0.4117:0.2891:0.0:0.2991	.	4050	B5ME49	.	D	4050	ENSP00000381008:E4050D	ENSP00000381008:E4050D	E	-	3	2	MUC16	8936296	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-3.551000	0.00433	-0.943000	0.03691	0.260000	0.18958	GAA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9075296	T	A	9075296	3	1	292	1	0	0	0	0	1	0	0	0	9973	1838	64	5	31701	5	MUC16	19	9075296	Missense_Mutation	SNP	T	TCGA-25-1322-01A-01W-0494-09		9075296	50053687	38	16080											
ZNF675	171392	genome.wustl.edu	37	19	23837047	23837047	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA		dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr19:23837047A>G	ENST00000359788.4	-	4	856	c.688T>C	c.(688-690)Tgt>Cgt	p.C230R	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	230					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C230R(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTCTTGACATTTGTAGAGT	0.313																																																1	Substitution - Missense(1)	ovary(1)	19											50	53	52					19																	23837047		2200	4296	6496	23628887	SO:0001583	missense	171392				CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.688T>C	19.37:g.23837047A>G	ENSP00000352836:p.Cys230Arg		23628887	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010143	0.35415	.	.	ENSG00000197372	ENST00000359788	T	0.40225	1.04	0.916	0.916	0.19373	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71195	0.3311	H	0.98866	4.355	0.58432	D	0.999992	D	0.60575	0.988	P	0.62298	0.9	T	0.71971	-0.4431	9	0.72032	D	0.01	.	6.7351	0.23405	1.0:0.0:0.0:0.0	.	230	Q8TD23	ZN675_HUMAN	R	230	ENSP00000352836:C230R	ENSP00000352836:C230R	C	-	1	0	ZNF675	23628887	0.987000	0.35691	0.275000	0.24674	0.273000	0.26683	5.638000	0.67861	0.257000	0.21650	0.254000	0.18369	TGT		0.313	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		G	23837047	A	G	23837047	3	3	292	1	0	0	0	0	1	0	0	0	18082	217	8	4	1022	4	ZNF675	19	23837047	Missense_Mutation	SNP	A	TCGA-25-1322-01A-01W-0494-09	14761751	23837047	35291936	39	16081											
PSG6	5675	genome.wustl.edu	37	19	43411283	43411283	+	Missense_Mutation	SNP	C	C	T	rs143813812	byFrequency	TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr19:43411283C>T	ENST00000292125.2	-	5	1075	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	PSG6_ENST00000187910.2_Missense_Mutation_p.R344H|PSG6_ENST00000402603.4_Missense_Mutation_p.R251H	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	344	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R344H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTCTCCTGAACGGTAATAGGT	0.478													.|||	2	0.000399361	0	0.0014	5008	,	,		19088	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19						C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	159	173	168		1031,1031	-3.1	0	19	dbSNP_134	168	11,8589		0,11,4289	no	missense,missense	PSG6	NM_001031850.2,NM_002782.3	29,29	0,11,6490	TT,TC,CC		0.1279,0.0,0.0846	,	344/425,344/436	43411283	11,12991	2201	4300	6501	48103123	SO:0001583	missense	5675				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1031G>A	19.37:g.43411283C>T	ENSP00000292125:p.Arg344His		48103123	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	0.061	-1.224119	0.01530	0.0	0.001279	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.13307	2.6;2.6;2.6	1.54	-3.08	0.05347	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06826	0.0174	L	0.28556	0.865	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.002	B;B;B	0.14023	0.006;0.01;0.005	T	0.40021	-0.9585	9	0.21014	T	0.42	.	0.454	0.00505	0.1931:0.3105:0.1933:0.3031	.	344;344;251	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	H	344;251;344	ENSP00000187910:R344H;ENSP00000385736:R251H;ENSP00000292125:R344H	ENSP00000187910:R344H	R	-	2	0	PSG6	48103123	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.013000	0.00646	-1.981000	0.00989	-1.368000	0.01194	CGT		0.478	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		T	43411283	C	T	43411283	3	4	292	1	0	0	0	0	1	0	0	0	12662	536	19	1	323	1	PSG6	19	43411283	Missense_Mutation	SNP	C	TCGA-25-1322-01A-01W-0494-09	19574236	43411283	15717700	40	16082											
SIGLEC14	100049587	genome.wustl.edu	37	19	52149193	52149193	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chr19:52149193G>A	ENST00000360844.6	-	3	583	c.542C>T	c.(541-543)aCg>aTg	p.T181M	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	181	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T181M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGCATTCCCCGTCCAGGAGAA	0.657																																																2	Substitution - Missense(2)	ovary(2)	19																																								56841005	SO:0001583	missense	100049587			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.542C>T	19.37:g.52149193G>A	ENSP00000354090:p.Thr181Met		56841005	Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	G	4.638	0.118691	0.08881	.	.	ENSG00000254415	ENST00000360844	D	0.86432	-2.12	3.09	-6.18	0.02085	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.183180	0.02203	N	0.062409	T	0.73401	0.3582	N	0.16266	0.395	0.09310	N	1	D	0.55172	0.97	P	0.45232	0.474	T	0.68712	-0.5336	10	0.07990	T	0.79	.	4.391	0.11341	0.5534:0.0:0.1647:0.2819	.	181	Q08ET2	SIG14_HUMAN	M	181	ENSP00000354090:T181M	ENSP00000354090:T181M	T	-	2	0	SIGLEC14	56841005	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-5.926000	0.00090	-1.582000	0.01640	0.508000	0.49915	ACG		0.657	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		A	52149193	G	A	52149193	3	1	292	1	0	0	0	0	1	0	0	0	14312	1145	40	1	668	1	SIGLEC14	19	52149193	Missense_Mutation	SNP	G	TCGA-25-1322-01A-01W-0494-09	8737910	52149193	6979790	41	16083											
ODZ1	10178	genome.wustl.edu	37	X	123517988	123517988	+	Missense_Mutation	SNP	C	C	T	rs377058853		TCGA-25-1322-01A-01W-0494-09	TCGA-25-1322-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	626f1798-fb15-4b01-8d8f-db19777d72e9	cd8be84a-2b01-491b-9427-b51a1e10786a	g.chrX:123517988C>T	ENST00000371130.3	-	29	6835	c.6772G>A	c.(6772-6774)Gcg>Acg	p.A2258T	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.A2265T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2258					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A2260T(2)									GACTTACTCGCGACACGTCGC	0.458																																																2	Substitution - Missense(2)	ovary(1)|stomach(1)	X											98	94	95					X																	123517988		2203	4300	6503	123345669	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6772G>A	X.37:g.123517988C>T	ENSP00000360171:p.Ala2258Thr		123345669	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077722	0.55753	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86030	-2.06;-2.03	5.66	4.74	0.60224	.	0.051235	0.85682	D	0.000000	D	0.83889	0.5352	L	0.28649	0.875	0.58432	D	0.999999	D;P;P	0.71674	0.998;0.9;0.868	P;B;B	0.56398	0.797;0.118;0.143	T	0.80870	-0.1189	10	0.21014	T	0.42	.	14.4108	0.67113	0.1479:0.8521:0.0:0.0	.	2264;2265;2258	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	2258;2265	ENSP00000360171:A2258T;ENSP00000403954:A2265T	ENSP00000360171:A2258T	A	-	1	0	ODZ1	123345669	0.995000	0.38212	0.988000	0.46212	0.989000	0.77384	3.100000	0.50275	2.356000	0.79943	0.600000	0.82982	GCG		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123517988	C	T	123517988	3	4	292	1	0	0	0	0	1	0	0	0	10834	768	27	1	1417	1	ODZ1	23	123517988	Missense_Mutation	SNP	C	TCGA-25-1322-01A-01W-0494-09		123517988	31752572	42	16084											
FAAH	2166	hgsc.bcm.edu	37	1	46871724	46871724	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr1:46871724A>T	ENST00000243167.8	+	6	884	c.800A>T	c.(799-801)aAg>aTg	p.K267M	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	267					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)	p.K267M(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AGTGGCCTGAAGGGCTGTGTC	0.612											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	1											78	80	79					1																	46871724		2203	4300	6503	46644311	SO:0001583	missense	2166			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.800A>T	1.37:g.46871724A>T	ENSP00000243167:p.Lys267Met	942	46644311	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	CCDS535.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650914	0.47362	.	.	ENSG00000117480	ENST00000243167	T	0.53423	0.62	4.5	4.5	0.54988	Amidase signature domain (2);	0.898946	0.09739	N	0.762154	T	0.45135	0.1327	L	0.46157	1.445	0.42082	D	0.991253	B	0.23806	0.091	B	0.30029	0.11	T	0.36672	-0.9738	10	0.48119	T	0.1	-9.9131	10.1427	0.42744	1.0:0.0:0.0:0.0	.	267	O00519	FAAH1_HUMAN	M	267	ENSP00000243167:K267M	ENSP00000243167:K267M	K	+	2	0	FAAH	46644311	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.794000	0.38774	1.894000	0.54839	0.533000	0.62120	AAG		0.612	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		T	46871724	A	T	46871724	3	4	293	1	0	0	0	0	1	0	0	0	5353	72	3	5	822	5	FAAH	1	46871724	Missense_Mutation	SNP	A	TCGA-25-1324-01A-01W-0490-10		46871724	202378897	1	16085											
WDR63	126820	hgsc.bcm.edu	37	1	85564236	85564236	+	Missense_Mutation	SNP	G	G	C	rs374225786	byFrequency	TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr1:85564236G>C	ENST00000294664.6	+	13	1554	c.1374G>C	c.(1372-1374)gaG>gaC	p.E458D	WDR63_ENST00000370596.1_Missense_Mutation_p.E419D|WDR63_ENST00000326813.8_Missense_Mutation_p.E419D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	458								p.E458D(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTGAACCGGAGAGTAATAAAG	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											97	103	101					1																	85564236		2203	4299	6502	85336824	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1374G>C	1.37:g.85564236G>C	ENSP00000294664:p.Glu458Asp		85336824	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	2.807	-0.247941	0.05867	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.62364	0.03;0.03;0.03	6.02	-12.0	0.00017	WD40 repeat-like-containing domain (1);	0.844937	0.11324	N	0.575708	T	0.05686	0.0149	N	0.01576	-0.805	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.12268	-1.0554	10	0.09338	T	0.73	-1.3575	6.2269	0.20714	0.1217:0.0805:0.3933:0.4045	.	419;458	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	D	419;419;458	ENSP00000359628:E419D;ENSP00000317463:E419D;ENSP00000294664:E458D	ENSP00000294664:E458D	E	+	3	2	WDR63	85336824	0.000000	0.05858	0.001000	0.08648	0.775000	0.43874	-5.208000	0.00141	-3.338000	0.00184	-0.884000	0.02946	GAG		0.343	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		C	85564236	G	C	85564236	3	2	293	1	0	0	0	0	1	0	0	0	17314	933	33	3	1420	3	WDR63	1	85564236	Missense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10	38692512	85564236	163686385	2	16086											
GREB1	9687	hgsc.bcm.edu	37	2	11777870	11777870	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr2:11777870C>T	ENST00000381486.2	+	31	5675	c.5375C>T	c.(5374-5376)cCg>cTg	p.P1792L	GREB1_ENST00000396123.1_Missense_Mutation_p.P790L|GREB1_ENST00000234142.5_Missense_Mutation_p.P1792L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1792						integral component of membrane (GO:0016021)		p.P1792L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCGGTCGTGCCGGCCCAGTAC	0.662																																					Ovarian(39;850 945 2785 23371 33093)											1	Substitution - Missense(1)	ovary(1)	2											51	58	55					2																	11777870		2110	4214	6324	11695321	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5375C>T	2.37:g.11777870C>T	ENSP00000370896:p.Pro1792Leu		11695321	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671618	0.88348	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.25749	3.09;3.09;1.78	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	M	0.71036	2.16	0.80722	D	1	D	0.64830	0.994	P	0.56163	0.793	T	0.52668	-0.8545	10	0.87932	D	0	-29.308	17.7654	0.88476	0.0:1.0:0.0:0.0	.	1792	Q4ZG55	GREB1_HUMAN	L	1792;1792;790	ENSP00000370896:P1792L;ENSP00000234142:P1792L;ENSP00000379429:P790L	ENSP00000234142:P1792L	P	+	2	0	GREB1	11695321	1.000000	0.71417	0.949000	0.38748	0.748000	0.42578	7.328000	0.79160	2.186000	0.69663	0.557000	0.71058	CCG		0.662	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11777870	C	T	11777870	3	4	293	1	0	0	0	0	1	0	0	0	6760	652	23	1	5601	1	GREB1	2	11777870	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10		11777870	231421503	3	16087											
CAD	790	hgsc.bcm.edu	37	2	27459284	27459284	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr2:27459284C>T	ENST00000403525.1	+	25	4162	c.4018C>T	c.(4018-4020)Cgg>Tgg	p.R1340W	CAD_ENST00000264705.4_Missense_Mutation_p.R1403W			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R1403W(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGGGGGCCGGCGTCTCTC	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											81	79	79					2																	27459284		2203	4300	6503	27312788	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4018C>T	2.37:g.27459284C>T	ENSP00000384510:p.Arg1340Trp		27312788	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	21.1	4.098321	0.76870	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.82344	-1.6;-1.6	5.03	4.14	0.48551	Methylglyoxal synthase-like domain (4);	0.054658	0.64402	D	0.000001	D	0.91768	0.7396	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	D	0.93063	0.6476	10	0.87932	D	0	0.1163	13.7869	0.63115	0.1549:0.8451:0.0:0.0	.	1340;1403	F8VPD4;P27708	.;PYR1_HUMAN	W	1403;1340	ENSP00000264705:R1403W;ENSP00000384510:R1340W	ENSP00000264705:R1403W	R	+	1	2	CAD	27312788	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.197000	0.58413	1.216000	0.43427	-0.314000	0.08810	CGG		0.562	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			T	27459284	C	T	27459284	3	4	293	1	0	0	0	0	1	0	0	0	2565	643	23	1	4309	1	CAD	2	27459284	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10	15681414	27459284	215740089	4	16088											
BIRC6	57448	hgsc.bcm.edu	37	2	32693060	32693060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr2:32693060G>A	ENST00000421745.2	+	28	5795	c.5661G>A	c.(5659-5661)tgG>tgA	p.W1887*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1887					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.W1859*(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTTGCCTTGGGAAAGTGAAC	0.418																																					Pancreas(94;175 1509 16028 18060 45422)											1	Substitution - Nonsense(1)	ovary(1)	2											70	71	70					2																	32693060		2203	4300	6503	32546564	SO:0001587	stop_gained	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5661G>A	2.37:g.32693060G>A	ENSP00000393596:p.Trp1887*		32546564	Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	47	13.049340	0.99715	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.9	5.9	0.94986	.	0.341664	0.33092	N	0.005281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	15.9683	0.79991	0.0:0.0:0.8573:0.1427	.	.	.	.	X	1887	.	ENSP00000393596:W1887X	W	+	3	0	BIRC6	32546564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.822000	0.97130	0.650000	0.86243	TGG		0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32693060	G	A	32693060	4	1	293	1	0	0	0	0	0	1	0	0	1438	1241	43	2	5771	2	BIRC6	2	32693060	Nonsense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10	5233776	32693060	210506313	5	16089											
TFCP2L1	29842	hgsc.bcm.edu	37	2	122038813	122038813	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr2:122038813C>T	ENST00000263707.5	-	2	194	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	33	Mediate transcriptional repression.				cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E33K(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					AGCTGGGGTTCCTCCTGCTTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	2											80	86	84					2																	122038813		2203	4300	6503	121755283	SO:0001583	missense	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.97G>A	2.37:g.122038813C>T	ENSP00000263707:p.Glu33Lys		121755283	Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030814	0.93575	.	.	ENSG00000115112	ENST00000263707	T	0.20200	2.09	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.30541	0.0768	L	0.55834	1.745	0.80722	D	1	B;B	0.31318	0.046;0.319	B;B	0.39935	0.098;0.314	T	0.04723	-1.0931	10	0.41790	T	0.15	.	18.7572	0.91837	0.0:1.0:0.0:0.0	.	33;33	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	K	33	ENSP00000263707:E33K	ENSP00000263707:E33K	E	-	1	0	TFCP2L1	121755283	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.023000	0.70848	2.429000	0.82318	0.655000	0.94253	GAA		0.637	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		T	122038813	C	T	122038813	3	4	293	1	0	0	0	0	1	0	0	0	15796	864	30	2	1398	2	TFCP2L1	2	122038813	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10	89345753	122038813	121160560	6	16090											
DPP4	1803	hgsc.bcm.edu	37	2	162851863	162851863	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr2:162851863C>A	ENST00000360534.3	-	24	2632	c.2072G>T	c.(2071-2073)aGa>aTa	p.R691I	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	691					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R691I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATTTTCAGCTCTGCTCATGAC	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											127	127	127					2																	162851863		2203	4300	6503	162560109	SO:0001583	missense	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2072G>T	2.37:g.162851863C>A	ENSP00000353731:p.Arg691Ile		162560109	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583392	0.65992	.	.	ENSG00000197635	ENST00000360534	T	0.30448	1.53	5.74	5.74	0.90152	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	M	0.81179	2.53	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.61058	-0.7139	10	0.87932	D	0	-19.6276	14.1223	0.65198	0.0:0.9285:0.0:0.0715	.	691	P27487	DPP4_HUMAN	I	691	ENSP00000353731:R691I	ENSP00000353731:R691I	R	-	2	0	DPP4	162560109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.434000	0.59935	2.683000	0.91414	0.655000	0.94253	AGA		0.333	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			A	162851863	C	A	162851863	3	1	293	1	0	0	0	0	1	0	0	0	4729	913	32	3	240	3	DPP4	2	162851863	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10	40813050	162851863	80347510	7	16091											
GK2	2712	hgsc.bcm.edu	37	4	80327979	80327979	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr4:80327979G>T	ENST00000358842.3	-	1	1393	c.1376C>A	c.(1375-1377)gCt>gAt	p.A459D		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.A459D(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGCCATGGCAGCTCCTAGTGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	4											88	91	90					4																	80327979		2203	4300	6503	80547003	SO:0001583	missense	2712			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1376C>A	4.37:g.80327979G>T	ENSP00000351706:p.Ala459Asp		80547003	Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522585	0.44866	.	.	ENSG00000196475	ENST00000358842	D	0.94862	-3.54	4.11	3.27	0.37495	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.97648	0.9229	H	0.96015	3.755	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.97665	1.0163	10	0.87932	D	0	-28.0422	10.2311	0.43256	0.0996:0.0:0.9004:0.0	.	459	Q14410	GLPK2_HUMAN	D	459	ENSP00000351706:A459D	ENSP00000351706:A459D	A	-	2	0	GK2	80547003	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	3.303000	0.51858	1.322000	0.45245	0.585000	0.79938	GCT		0.473	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		T	80327979	G	T	80327979	3	4	293	1	0	0	0	0	1	0	0	0	6421	971	34	3	289	3	GK2	4	80327979	Missense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10		80327979	110826297	8	16092											
MTTP	4547	hgsc.bcm.edu	37	4	100540209	100540209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr4:100540209G>T	ENST00000265517.5	+	16	2499	c.2296G>T	c.(2296-2298)Gag>Tag	p.E766*	MTTP_ENST00000511045.1_Nonsense_Mutation_p.E793*|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Nonsense_Mutation_p.E766*			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	766					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.E766*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGGTGCAATGGAGTTTAGCTT	0.343																																																1	Substitution - Nonsense(1)	ovary(1)	4											179	182	181					4																	100540209		2203	4300	6503	100759232	SO:0001587	stop_gained	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2296G>T	4.37:g.100540209G>T	ENSP00000265517:p.Glu766*		100759232	A8K428|Q08AM4|Q6P5T3	Nonsense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	42	9.794835	0.99266	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	.	.	.	5.84	5.84	0.93424	.	0.051994	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.536	20.1346	0.98019	0.0:0.0:1.0:0.0	.	.	.	.	X	793;766;766	.	ENSP00000265517:E766X	E	+	1	0	MTTP	100759232	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.694000	0.91293	2.765000	0.95021	0.655000	0.94253	GAG		0.343	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			T	100540209	G	T	100540209	4	4	293	1	0	0	0	0	0	1	0	0	9964	1175	41	3	2358	3	MTTP	4	100540209	Nonsense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10	20212230	100540209	90614067	9	16093											
PDGFRB	5159	hgsc.bcm.edu	37	5	149512412	149512412	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr5:149512412T>G	ENST00000261799.4	-	7	1497	c.1028A>C	c.(1027-1029)tAc>tCc	p.Y343S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	343	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.Y343S(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGCGGTGGGTAGGCCTCGAA	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	1	Substitution - Missense(1)	ovary(1)	5											53	41	45					5																	149512412		2203	4300	6503	149492605	SO:0001583	missense	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1028A>C	5.37:g.149512412T>G	ENSP00000261799:p.Tyr343Ser		149492605	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929415	0.73327	.	.	ENSG00000113721	ENST00000261799	T	0.64991	-0.13	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000153	T	0.81522	0.4840	M	0.85373	2.75	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.84776	0.0770	10	0.87932	D	0	.	15.9765	0.80071	0.0:0.0:0.0:1.0	.	343;343	A8KAM8;P09619	.;PGFRB_HUMAN	S	343	ENSP00000261799:Y343S	ENSP00000261799:Y343S	Y	-	2	0	PDGFRB	149492605	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	6.954000	0.76001	2.172000	0.68678	0.533000	0.62120	TAC		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		G	149512412	T	G	149512412	3	3	293	1	0	0	0	0	1	0	0	0	11662	1638	57	5	2360	5	PDGFRB	5	149512412	Missense_Mutation	SNP	T	TCGA-25-1324-01A-01W-0490-10		149512412	31402848	10	16094											
GABRA6	2559	hgsc.bcm.edu	37	5	161128737	161128737	+	Silent	SNP	T	T	C			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr5:161128737T>C	ENST00000274545.5	+	9	1753	c.1320T>C	c.(1318-1320)taT>taC	p.Y440Y	GABRA6_ENST00000523217.1_Silent_p.Y430Y			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	440					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.Y440Y(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)	GGGTAGTTTATCTTTCCAAAG	0.418										TCGA Ovarian(5;0.080)																																						1	Substitution - coding silent(1)	ovary(1)	5											107	96	100					5																	161128737		2203	4300	6503	161061315	SO:0001819	synonymous_variant	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.1320T>C	5.37:g.161128737T>C			161061315	A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	CCDS4356.1																																																																																				0.418	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			C	161128737	T	C	161128737	2	2	293	1	0	0	0	0	0	0	0	1	6165	1442	50	4		4	GABRA6	5	161128737	Silent	SNP	T	TCGA-25-1324-01A-01W-0490-10	11616325	161128737	19786523	11	16095											
ZCWPW1	55063	hgsc.bcm.edu	37	7	100014692	100014692	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr7:100014692T>G	ENST00000398027.2	-	6	723	c.476A>C	c.(475-477)aAt>aCt	p.N159T	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.N38T|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.N159T|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.N38T	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	159							zinc ion binding (GO:0008270)	p.N159T(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACTTACCCATTAGCATTATC	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											151	141	144					7																	100014692		1928	4135	6063	99852628	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.476A>C	7.37:g.100014692T>G	ENSP00000381109:p.Asn159Thr		99852628	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	T	6.214	0.407588	0.11754	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.45668	0.92;0.93;0.89;0.93	4.48	2.03	0.26663	.	0.296500	0.24307	N	0.039669	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.14012	0.005;0.005;0.005;0.005;0.009	B;B;B;B;B	0.15870	0.006;0.006;0.006;0.006;0.014	T	0.15435	-1.0437	9	.	.	.	.	3.7077	0.08407	0.19:0.104:0.0:0.7059	.	159;119;160;159;38	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	T	159;38;159;38;160	ENSP00000381109:N159T;ENSP00000419187:N38T;ENSP00000354210:N159T;ENSP00000314880:N38T	.	N	-	2	0	ZCWPW1	99852628	0.989000	0.36119	0.507000	0.27676	0.097000	0.18754	0.741000	0.26202	0.313000	0.23062	0.523000	0.50628	AAT		0.418	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		G	100014692	T	G	100014692	3	3	293	1	0	0	0	0	1	0	0	0	17597	1493	52	5	1522	5	ZCWPW1	7	100014692	Missense_Mutation	SNP	T	TCGA-25-1324-01A-01W-0490-10		100014692	59123971	12	16096											
RELN	5649	hgsc.bcm.edu	37	7	103124188	103124188	+	Missense_Mutation	SNP	C	C	T	rs115035120	byFrequency	TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr7:103124188C>T	ENST00000428762.1	-	62	10252	c.10093G>A	c.(10093-10095)Gtc>Atc	p.V3365I	RELN_ENST00000343529.5_Missense_Mutation_p.V3365I|RELN_ENST00000473945.1_5'UTR|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3365I|RN7SKP86_ENST00000410454.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3365					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.V3365I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCGTTGTTGACGCTGTATTGC	0.552													C|||	7	0.00139776	8e-04	0	5008	,	,		18342	0		0.001	False		,,,				2504	0.0051				NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - Missense(1)	ovary(1)	7						C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	230	192	205		10093,10093	3.1	0.8	7	dbSNP_132	205	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	29,29	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	probably-damaging,probably-damaging	3365/3461,3365/3459	103124188	8,12998	2203	4300	6503	102911424	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10093G>A	7.37:g.103124188C>T	ENSP00000392423:p.Val3365Ile		102911424	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.12	2.142400	0.37825	0.0	9.3E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21932	1.98;1.98;1.98	5.87	3.1	0.35709	.	0.145479	0.45606	N	0.000351	T	0.28400	0.0702	L	0.43152	1.355	0.39557	D	0.969078	B;D	0.67145	0.347;0.996	B;P	0.60415	0.054;0.874	T	0.03597	-1.1021	10	0.22706	T	0.39	.	8.8648	0.35280	0.1229:0.7486:0.0:0.1285	.	3365;3365	P78509-2;P78509	.;RELN_HUMAN	I	3365;3365;3365;882;3365	ENSP00000392423:V3365I;ENSP00000345694:V3365I;ENSP00000388446:V3365I	ENSP00000345694:V3365I	V	-	1	0	RELN	102911424	0.747000	0.28283	0.782000	0.31804	0.737000	0.42083	1.384000	0.34396	0.393000	0.25203	0.655000	0.94253	GTC		0.552	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103124188	C	T	103124188	3	4	293	1	0	0	0	0	1	0	0	0	13223	536	19	1	305	1	RELN	7	103124188	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10	3109496	103124188	56014475	13	16097											
C7orf53	286006	hgsc.bcm.edu	37	7	112127076	112127076	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr7:112127076G>A	ENST00000312849.4	+	3	587	c.226G>A	c.(226-228)Gca>Aca	p.A76T	LSMEM1_ENST00000439068.2_Missense_Mutation_p.A76T|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	76						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A76T(1)									TGTCAGCCTGGCACTGGTTTT	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											175	166	169					7																	112127076		2203	4300	6503	111914312	SO:0001583	missense	286006			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 53"	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.226G>A	7.37:g.112127076G>A	ENSP00000323304:p.Ala76Thr		111914312	Q49AR6	Missense_Mutation	SNP	ENST00000312849.4	37	CCDS5756.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489672	0.26686	.	.	ENSG00000181016	ENST00000439068;ENST00000312849	.	.	.	4.97	3.01	0.34805	.	0.397620	0.24384	N	0.038993	T	0.31389	0.0795	N	0.17082	0.46	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.10730	-1.0617	9	0.39692	T	0.17	-31.811	5.9935	0.19480	0.2345:0.0:0.7655:0.0	.	76	Q8N8F7	CG053_HUMAN	T	76	.	ENSP00000323304:A76T	A	+	1	0	C7orf53	111914312	0.977000	0.34250	0.885000	0.34714	0.575000	0.36095	1.821000	0.39041	1.324000	0.45282	0.655000	0.94253	GCA		0.418	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597		A	112127076	G	A	112127076	3	1	293	1	0	0	0	0	1	0	0	0	2402	1203	42	2	232	2	C7orf53	7	112127076	Missense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10	9002888	112127076	47011587	14	16098											
RP1L1	94137	hgsc.bcm.edu	37	8	10464476	10464476	+	Missense_Mutation	SNP	G	G	C	rs554228490		TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr8:10464476G>C	ENST00000382483.3	-	4	7355	c.7132C>G	c.(7132-7134)Ctc>Gtc	p.L2378V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2458					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.L2378V(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGACTTCCGAGTGCCTGGTCC	0.537																																																1	Substitution - Missense(1)	ovary(1)	8											109	114	113					8																	10464476		1922	4116	6038	10501886	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7132C>G	8.37:g.10464476G>C	ENSP00000371923:p.Leu2378Val		10501886	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.348080	0.01266	.	.	ENSG00000183638	ENST00000382483	T	0.04049	3.72	4.57	0.731	0.18277	.	1.356770	0.05761	N	0.604974	T	0.03263	0.0095	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.11329	0.006	T	0.47898	-0.9081	10	0.21014	T	0.42	0.6952	5.9205	0.19080	0.0:0.4627:0.2905:0.2468	.	2378	A6NKC6	.	V	2378	ENSP00000371923:L2378V	ENSP00000371923:L2378V	L	-	1	0	RP1L1	10501886	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.277000	0.18734	0.023000	0.15187	-0.321000	0.08615	CTC		0.537	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			C	10464476	G	C	10464476	3	2	293	1	0	0	0	0	1	0	0	0	13536	1029	36	3	74	3	RP1L1	8	10464476	Missense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10		10464476	135899546	15	16099											
ZFHX4	79776	hgsc.bcm.edu	37	8	77618212	77618212	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr8:77618212G>T	ENST00000521891.2	+	2	2337	c.1889G>T	c.(1888-1890)gGt>gTt	p.G630V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G630V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G630V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G630V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G630V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCTTGGTGGTCATATGACT	0.532										HNSCC(33;0.089)																																						1	Substitution - Missense(1)	ovary(1)	8											87	91	90					8																	77618212		2008	4199	6207	77780767	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1889G>T	8.37:g.77618212G>T	ENSP00000430497:p.Gly630Val		77780767	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726383	0.48833	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.65;0.66;0.63;0.62	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.45361	U	0.000367	T	0.60971	0.2310	L	0.33668	1.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.979	D;D;D;P	0.97110	0.999;1.0;1.0;0.882	T	0.63120	-0.6708	10	0.72032	D	0.01	.	19.15	0.93483	0.0:0.0:1.0:0.0	.	630;630;630;630	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	630	ENSP00000430497:G630V;ENSP00000399605:G630V;ENSP00000050961:G630V;ENSP00000430848:G630V	ENSP00000050961:G630V	G	+	2	0	ZFHX4	77780767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.750000	0.94351	0.655000	0.94253	GGT		0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77618212	G	T	77618212	3	4	293	1	0	0	0	0	1	0	0	0	17635	1261	44	3	1891	3	ZFHX4	8	77618212	Missense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10	67153736	77618212	68745810	16	16100											
KIAA1529	100499483	hgsc.bcm.edu	37	9	100071845	100071845	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr9:100071845C>A	ENST00000357054.1	+	17	1703	c.768C>A	c.(766-768)agC>agA	p.S256R	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.S117R|CCDC180_ENST00000395220.1_Missense_Mutation_p.S256R|CCDC180_ENST00000529487.1_Missense_Mutation_p.S117R|CCDC180_ENST00000411667.2_Missense_Mutation_p.S117R|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	256						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S256R(1)									GGATGCACAGCCTCCCCAACG	0.547																																																1	Substitution - Missense(1)	ovary(1)	9											99	77	84					9																	100071845		2203	4300	6503	99111666	SO:0001583	missense	57653			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.768C>A	9.37:g.100071845C>A	ENSP00000349562:p.Ser256Arg		99111666	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	C	11.28	1.591394	0.28357	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.24908	2.62;1.83;2.65;2.27;2.65	4.71	1.64	0.23874	.	0.000000	0.45606	D	0.000347	T	0.26991	0.0661	L	0.60455	1.87	0.31405	N	0.676238	D;P;D;P	0.54397	0.966;0.911;0.966;0.911	P;P;P;P	0.51833	0.681;0.681;0.681;0.681	T	0.16719	-1.0393	10	0.21540	T	0.41	-16.4152	4.064	0.09851	0.0:0.59:0.1967:0.2133	.	117;256;117;256	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	R	256;256;117;117;140;117	ENSP00000349562:S256R;ENSP00000378646:S256R;ENSP00000364348:S117R;ENSP00000414000:S117R;ENSP00000434727:S117R	ENSP00000349562:S256R	S	+	3	2	C9orf174	99111666	1.000000	0.71417	0.996000	0.52242	0.187000	0.23431	0.713000	0.25794	1.127000	0.42034	0.561000	0.74099	AGC		0.547	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		A	100071845	C	A	100071845	3	1	293	1	0	0	0	0	1	0	0	0	8240	738	26	3	790	3	KIAA1529	9	100071845	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10		100071845	41141586	17	16101											
C9orf96	169436	hgsc.bcm.edu	37	9	136265635	136265635	+	Frame_Shift_Del	DEL	G	G	-			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr9:136265635delG	ENST00000371957.3	+	12	1283	c.1176delG	c.(1174-1176)ctgfs	p.L394fs	C9orf96_ENST00000371955.1_Frame_Shift_Del_p.L19fs	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		394							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.L437fs*11(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCTGCTCCCTGCTGCTGCACC	0.667																																																1	Deletion - Frameshift(1)	ovary(1)	9											129	88	102					9																	136265635		2203	4300	6503	135255456	SO:0001589	frameshift_variant	169436																														ENST00000371957.3:c.1176delG	9.37:g.136265635delG	ENSP00000361025:p.Leu394fs		135255456	Q5T8U8|Q6ZMP6|Q6ZMQ5	Frame_Shift_Del	DEL	ENST00000371957.3	37	CCDS35169.1																																																																																				0.667	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			-	136265635	G	-	136265635	7	5	293	1	0	1	0	1	0	0	0	0	2508	1306	46	0	1222	0	C9orf96	9	136265635	Frame_Shift_Del	DEL	G	TCGA-25-1324-01A-01W-0490-10	36193790	136265635	4947796	18	16102											
PTPRE	5791	hgsc.bcm.edu	37	10	129871627	129871627	+	Silent	SNP	C	C	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr10:129871627C>T	ENST00000254667.3	+	17	1770	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	PTPRE_ENST00000419012.2_Silent_p.I497I|PTPRE_ENST00000306042.5_Silent_p.I439I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	497	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I497I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	ACTATTTCATCGCCACCCAGG	0.537																																					Colon(52;977 1184 20575 41685)											1	Substitution - coding silent(1)	ovary(1)	10											124	112	116					10																	129871627		2203	4300	6503	129761617	SO:0001819	synonymous_variant	5791			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1491C>T	10.37:g.129871627C>T			129761617	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	CCDS7657.1																																																																																				0.537	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			T	129871627	C	T	129871627	2	4	293	1	0	0	0	0	0	0	0	1	12803	874	31	1		1	PTPRE	10	129871627	Silent	SNP	C	TCGA-25-1324-01A-01W-0490-10		129871627	5663120	19	16103											
KCNA5	3741	hgsc.bcm.edu	37	12	5154733	5154734	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr12:5154733_5154734delGC	ENST00000252321.3	+	1	1649_1650	c.1420_1421delGC	c.(1420-1422)gcafs	p.A474fs		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	474					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.A474fs*62(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTTCTGGTGGGCAGTGGTCACC	0.609																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								5024995	SO:0001589	frameshift_variant	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1420_1421delGC	12.37:g.5154733_5154734delGC	ENSP00000252321:p.Ala474fs		5024994	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Frame_Shift_Del	DEL	ENST00000252321.3	37	CCDS8536.1																																																																																				0.609	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		-	5154734	GC	-	5154733	7	5	293	1	0	1	0	1	0	0	0	0	8006	1203	42	0	1422	0	KCNA5	12	5154733	Frame_Shift_Del	DEL	GC	TCGA-25-1324-01A-01W-0490-10		5154733	128697162	20	16104											
GPR162	27239	hgsc.bcm.edu	37	12	6934716	6934716	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr12:6934716G>A	ENST00000311268.3	+	3	1722	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	GPR162_ENST00000428545.2_Missense_Mutation_p.C28Y|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.C8Y	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C312Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GTGCTGTGGTGCTCCATGGCA	0.667											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											50	38	42					12																	6934716		2202	4299	6501	6804977	SO:0001583	missense	27239			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.935G>A	12.37:g.6934716G>A	ENSP00000311528:p.Cys312Tyr	637	6804977	Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015217	0.93404	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.75260	1.38;-0.85;-0.92	4.89	4.89	0.63831	.	.	.	.	.	T	0.81034	0.4739	L	0.34521	1.04	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.998	D	0.83402	0.0023	9	0.87932	D	0	.	18.2545	0.90015	0.0:0.0:1.0:0.0	.	96;28;312	Q13513;Q16538-2;Q16538	.;.;GP162_HUMAN	Y	312;28;8	ENSP00000311528:C312Y;ENSP00000399670:C28Y;ENSP00000371752:C8Y	ENSP00000311528:C312Y	C	+	2	0	GPR162	6804977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.538000	0.85594	0.462000	0.41574	TGC		0.667	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		A	6934716	G	A	6934716	3	1	293	1	0	0	0	0	1	0	0	0	6666	1319	46	2	960	2	GPR162	12	6934716	Missense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10	1779983	6934716	126917179	21	16105											
KNTC1	9735	hgsc.bcm.edu	37	12	123057772	123057773	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr12:123057772_123057773delAA	ENST00000333479.7	+	26	2400_2401	c.2223_2224delAA	c.(2221-2226)ataagafs	p.IR741fs	KNTC1_ENST00000450485.2_Frame_Shift_Del_p.IR704fs	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	741					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.I741fs*8(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAAGTTTATAAGAGTTTACAT	0.386																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								121623726	SO:0001589	frameshift_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2223_2224delAA	12.37:g.123057772_123057773delAA	ENSP00000328236:p.Ile741fs		121623725	A7E2C4|B3KSG2	Frame_Shift_Del	DEL	ENST00000333479.7	37	CCDS45002.1																																																																																				0.386	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			-	123057773	AA	-	123057772	7	5	293	1	0	1	0	1	0	0	0	0	8428	352	13	0	2321	0	KNTC1	12	123057772	Frame_Shift_Del	DEL	AA	TCGA-25-1324-01A-01W-0490-10	116123056	123057772	10794123	22	16106											
PCDH20	64881	hgsc.bcm.edu	37	13	61987446	61987446	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr13:61987446C>A	ENST00000409186.1	-	5	2891	c.786G>T	c.(784-786)gaG>gaT	p.E262D	PCDH20_ENST00000409204.4_Missense_Mutation_p.E262D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	262	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E235D(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATTCTCATTCTCCTCCACGT	0.522																																																1	Substitution - Missense(1)	ovary(1)	13											102	88	93					13																	61987446		2203	4300	6503	60885447	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.786G>T	13.37:g.61987446C>A	ENSP00000386653:p.Glu262Asp		60885447	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044495	0.36085	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.51071	0.72;0.72	5.91	3.25	0.37280	.	0.000000	0.64402	D	0.000003	T	0.49966	0.1588	N	0.16368	0.405	0.53005	D	0.999969	D	0.76494	0.999	D	0.72625	0.978	T	0.36672	-0.9738	10	0.31617	T	0.26	.	13.7917	0.63146	0.0:0.8137:0.0:0.1863	.	262	A8K1K9	.	D	262;262;8	ENSP00000387250:E262D;ENSP00000386653:E262D	ENSP00000351500:E8D	E	-	3	2	PCDH20	60885447	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	1.553000	0.36255	0.133000	0.18654	-0.797000	0.03246	GAG		0.522	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		A	61987446	C	A	61987446	3	1	293	1	0	0	0	0	1	0	0	0	11515	912	32	3	2073	3	PCDH20	13	61987446	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10		61987446	53182432	23	16107											
GRTP1	79774	hgsc.bcm.edu	37	13	114009663	114009663	+	Silent	SNP	G	G	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr13:114009663G>A	ENST00000375431.4	-	3	389	c.315C>T	c.(313-315)ccC>ccT	p.P105P	GRTP1_ENST00000326039.3_Silent_p.P27P|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000375430.4_Silent_p.P105P	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	105	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.P105P(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCTCCAGCCTGGGGTTTCTCT	0.667																																																1	Substitution - coding silent(1)	ovary(1)	13											85	77	79					13																	114009663		2203	4300	6503	113057664	SO:0001819	synonymous_variant	79774			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.315C>T	13.37:g.114009663G>A			113057664	B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Silent	SNP	ENST00000375431.4	37	CCDS9534.2																																																																																				0.667	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		A	114009663	G	A	114009663	2	1	293	1	0	0	0	0	0	0	0	1	6810	1335	47	2		2	GRTP1	13	114009663	Silent	SNP	G	TCGA-25-1324-01A-01W-0490-10	52022217	114009663	1160215	24	16108											
SERPINA6	866	hgsc.bcm.edu	37	14	94780518	94780518	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr14:94780518C>G	ENST00000341584.3	-	2	614	c.468G>C	c.(466-468)ttG>ttC	p.L156F		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	156					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)	p.L156F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AATTCATAGCCAAGACCTCTG	0.473																																																1	Substitution - Missense(1)	ovary(1)	14											129	127	127					14																	94780518		2203	4300	6503	93850271	SO:0001583	missense	866			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.468G>C	14.37:g.94780518C>G	ENSP00000342850:p.Leu156Phe		93850271	A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.402281	0.00195	.	.	ENSG00000170099	ENST00000341584	D	0.84146	-1.81	5.05	2.05	0.26809	Serpin domain (3);	0.707310	0.12662	N	0.449505	T	0.65101	0.2659	N	0.16567	0.415	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.52503	-0.8567	10	0.02654	T	1	.	2.0711	0.03614	0.3061:0.4231:0.112:0.1588	.	156	P08185	CBG_HUMAN	F	156	ENSP00000342850:L156F	ENSP00000342850:L156F	L	-	3	2	SERPINA6	93850271	0.002000	0.14202	0.002000	0.10522	0.004000	0.04260	0.081000	0.14823	0.699000	0.31761	0.655000	0.94253	TTG		0.473	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		G	94780518	C	G	94780518	3	3	293	1	0	0	0	0	1	0	0	0	14096	593	21	3	765	3	SERPINA6	14	94780518	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10		94780518	12569022	25	16109											
MGA	23269	hgsc.bcm.edu	37	15	42052633	42052633	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr15:42052633G>A	ENST00000570161.1	+	19	7304	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000219905.7_Missense_Mutation_p.R2435Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R2484Q(4)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCGGCGGCGGCGTGGTGAA	0.438																																																4	Substitution - Missense(4)	ovary(2)|large_intestine(1)|central_nervous_system(1)	15											109	111	110					15																	42052633		1900	4109	6009	39839925	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7304G>A	15.37:g.42052633G>A	ENSP00000457035:p.Arg2435Gln		39839925	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296335	0.95574	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.99722	-6.53;-6.53;-6.53	5.53	5.53	0.82687	.	0.000000	0.49305	D	0.000156	D	0.99711	0.9889	M	0.83223	2.63	0.31601	N	0.652706	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.978	D	0.97541	1.0086	10	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	1051;2226;2435	B4DVS1;F5H7K2;E7ENI0	.;.;.	Q	2435;2396;2226	ENSP00000219905:R2435Q;ENSP00000374586:R2396Q;ENSP00000442467:R2226Q	ENSP00000219905:R2435Q	R	+	2	0	MGA	39839925	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	CGG		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		A	42052633	G	A	42052633	3	1	293	1	0	0	0	0	1	0	0	0	9540	1116	39	1	7378	1	MGA	15	42052633	Missense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10		42052633	60478759	26	16110											
ATP8B4	79895	hgsc.bcm.edu	37	15	50223422	50223422	+	Silent	SNP	G	G	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr15:50223422G>A	ENST00000284509.6	-	16	1677	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ATP8B4_ENST00000559829.1_Silent_p.S512S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	512						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S512S(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTGGGGTCCGGGATTTAAAAA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	15											110	114	113					15																	50223422		2196	4295	6491	48010714	SO:0001819	synonymous_variant	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1536C>T	15.37:g.50223422G>A			48010714	Q9H727	Silent	SNP	ENST00000284509.6	37	CCDS32238.1																																																																																				0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		A	50223422	G	A	50223422	2	1	293	1	0	0	0	0	0	0	0	1	1197	1219	43	2		2	ATP8B4	15	50223422	Silent	SNP	G	TCGA-25-1324-01A-01W-0490-10	8170789	50223422	52307970	27	16111											
RILP	8578	hgsc.bcm.edu	37	17	1551754	1551754	+	5'Flank	SNP	C	C	G			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr17:1551754C>G	ENST00000263071.4	-	0	0				SCARF1_ENST00000571272.1_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.E237D|SCARF1_ENST00000348987.3_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.E237D(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACTGCCCTGCCTCCGAGGGGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	17											37	35	36					17																	1551754		2203	4300	6503	1498504	SO:0001631	upstream_gene_variant	83547			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551754C>G	Exception_encountered		1498504	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069212	0.36470	.	.	ENSG00000167705	ENST00000301336	T	0.24908	1.83	5.71	1.38	0.22167	.	0.567183	0.19103	N	0.122642	T	0.07638	0.0192	N	0.02916	-0.46	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.38308	-0.9667	10	0.06625	T	0.88	-1.1488	5.7603	0.18196	0.1319:0.5431:0.2547:0.0704	.	237	Q96NA2	RILP_HUMAN	D	237	ENSP00000301336:E237D	ENSP00000301336:E237D	E	-	3	2	RILP	1498504	0.013000	0.17824	0.009000	0.14445	0.224000	0.24922	1.009000	0.29886	0.057000	0.16193	-0.165000	0.13383	GAG		0.647	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		G	1551754	C	G	1551754	1	3	293	0	1	0	0	0	0	0	0	0	13363	680	24	3		3	RILP	17	1551754	5'Flank	SNP	C	TCGA-25-1324-01A-01W-0490-10		1551754	79643456	28	16112											
RPA1	6117	hgsc.bcm.edu	37	17	1787116	1787116	+	Frame_Shift_Del	DEL	G	G	-			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr17:1787116delG	ENST00000254719.5	+	13	1362	c.1252delG	c.(1252-1254)gaafs	p.E418fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	418					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)	p.E418fs*5(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GTTTGACGCAGAAGGACAAGC	0.488								Nucleotide excision repair (NER)																																								1	Deletion - Frameshift(1)	ovary(1)	17											184	160	168					17																	1787116		2203	4300	6503	1733866	SO:0001589	frameshift_variant	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1252delG	17.37:g.1787116delG	ENSP00000254719:p.Glu418fs		1733866	A8K0Y9|Q59ES9	Frame_Shift_Del	DEL	ENST00000254719.5	37	CCDS11014.1																																																																																				0.488	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		-	1787116	G	-	1787116	7	5	293	1	0	1	0	1	0	0	0	0	13539	943	33	0	1302	0	RPA1	17	1787116	Frame_Shift_Del	DEL	G	TCGA-25-1324-01A-01W-0490-10	235362	1787116	79408094	29	16113											
TP53	7157	hgsc.bcm.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	CAGGGGAGTACTGTAGGAAGA	0.552		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"	51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	17											42	42	42					17																	7578555		2203	4300	6503	7519280	SO:0001630	splice_region_variant	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.376-1G>A	17.37:g.7578555C>T			7519280	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7578555	C	T	7578555	5	4	293	1	0	0	0	0	0	0	1	0	16381	579	20	2	923	2	TP53	17	7578555	Splice_Site	SNP	C	TCGA-25-1324-01A-01W-0490-10	5791439	7578555	73616655	30	16114											
MFSD11	79157	hgsc.bcm.edu	37	17	74763467	74763467	+	Splice_Site	SNP	G	G	C			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr17:74763467G>C	ENST00000588460.1	+	9	2724		c.e9-1		MFSD11_ENST00000593181.1_Splice_Site|MFSD11_ENST00000355954.3_Splice_Site|MFSD11_ENST00000586622.1_Splice_Site|MFSD11_ENST00000590514.1_Splice_Site|MFSD11_ENST00000336509.4_Splice_Site	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11							integral component of membrane (GO:0016021)		p.?(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGTGTTTACAGAAAAGTCTTT	0.308																																																1	Unknown(1)	ovary(1)	17											83	81	82					17																	74763467		2203	4300	6503	72275062	SO:0001630	splice_region_variant	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.683-1G>C	17.37:g.74763467G>C			72275062	O43442|Q9NXI5	Splice_Site	SNP	ENST00000588460.1	37	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113875	0.77210	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1849	0.89790	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD11	72275062	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	8.515000	0.90548	2.301000	0.77427	0.591000	0.81541	.		0.308	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311	Intron	C	74763467	G	C	74763467	5	2	293	1	0	0	0	0	0	0	1	0	9529	956	33	3	716	3	MFSD11	17	74763467	Splice_Site	SNP	G	TCGA-25-1324-01A-01W-0490-10	67184912	74763467	6431743	31	16115											
ZBTB7C	201501	hgsc.bcm.edu	37	18	45567396	45567396	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr18:45567396C>T	ENST00000588982.1	-	3	584	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.R28Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	28							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R28Q(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCATCGTGCCGTTGCTCATT	0.582																																																1	Substitution - Missense(1)	ovary(1)	18											84	77	79					18																	45567396		2203	4300	6503	43821394	SO:0001583	missense	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.83G>A	18.37:g.45567396C>T	ENSP00000468782:p.Arg28Gln		43821394	O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908657	0.92107	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.73152	-0.72;-0.72	5.04	5.04	0.67666	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	M	0.90019	3.08	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	D	0.90252	0.4294	10	0.87932	D	0	.	18.3518	0.90340	0.0:1.0:0.0:0.0	.	28;28;28	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	Q	28	ENSP00000439781:R28Q;ENSP00000328732:R28Q	ENSP00000328732:R28Q	R	-	2	0	ZBTB7C	43821394	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.332000	0.79248	0.561000	0.74099	CGG		0.582	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		T	45567396	C	T	45567396	3	4	293	1	0	0	0	0	1	0	0	0	17555	652	23	1	1784	1	ZBTB7C	18	45567396	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10		45567396	32509852	32	16116											
KIR3DL3	115653	hgsc.bcm.edu	37	19	55239242	55239242	+	Missense_Mutation	SNP	C	C	T	rs367886097		TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr19:55239242C>T	ENST00000291860.1	+	4	539	c.521C>T	c.(520-522)gCg>gTg	p.A174V	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	174	Ig-like C2-type 2. {ECO:0000305}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A174V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCACGATGCGGGTTCCCAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	19						C	VAL/ALA	1,3955		0,1,1977	105	88	95		521	-2.8	0	19		95	0,6878		0,0,3439	no	missense	KIR3DL3	NM_153443.3	64	0,1,5416	TT,TC,CC		0.0,0.0253,0.0092	possibly-damaging	174/411	55239242	1,10833	1978	3439	5417	59931054	SO:0001583	missense	115653			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.521C>T	19.37:g.55239242C>T	ENSP00000291860:p.Ala174Val		59931054	A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	10.75	1.439250	0.25900	2.53E-4	0.0	ENSG00000242019	ENST00000291860	T	0.02787	4.16	1.38	-2.75	0.05914	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02807	0.0084	L	0.31664	0.95	0.09310	N	1	D	0.57571	0.98	P	0.46389	0.515	T	0.36407	-0.9749	9	0.87932	D	0	.	4.6375	0.12531	0.1785:0.2293:0.5921:0.0	.	174	Q8N743	KI3L3_HUMAN	V	174	ENSP00000291860:A174V	ENSP00000291860:A174V	A	+	2	0	KIR3DL3	59931054	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	-0.073000	0.11468	-0.758000	0.04690	-2.628000	0.00155	GCG		0.547	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		T	55239242	C	T	55239242	3	4	293	1	0	0	0	0	1	0	0	0	8322	768	27	1	535	1	KIR3DL3	19	55239242	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10		55239242	3889741	33	16117											
KIR2DL4	3811	hgsc.bcm.edu	37	19	55315144	55315144	+	Intron	SNP	T	T	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr19:55315144T>A	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_Missense_Mutation_p.L13H|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.L13H|KIR2DL4_ENST00000346587.4_Missense_Mutation_p.L13H|KIR2DL4_ENST00000396293.1_Missense_Mutation_p.L13H|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.L13H|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.L13H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGCATGTCTTGGTGAGTCC	0.577											OREG0003678	type=REGULATORY REGION|Gene=KIR2DL4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	ovary(1)	19											7	7	7					19																	55315144		1663	3606	5269	60006956	SO:0001627	intron_variant	3805			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-13845T>A	19.37:g.55315144T>A		1007	60006956	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37		.	.	.	.	.	.	.	.	.	.	T	11.80	1.746762	0.30955	.	.	ENSG00000189013	ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396293;ENST00000346587;ENST00000396289	T;T;T;T;T;T	0.00569	6.56;6.58;6.52;6.63;6.75;6.59	1.07	-0.0402	0.13872	.	.	.	.	.	T	0.01765	0.0056	M	0.88105	2.93	0.23933	N	0.996425	D;D;D;D;P;D;P	0.71674	0.998;0.981;0.993;0.993;0.517;0.998;0.61	P;P;D;D;B;D;B	0.65987	0.77;0.765;0.93;0.919;0.004;0.94;0.018	T	0.42565	-0.9444	9	0.87932	D	0	.	2.9547	0.05872	0.0:0.3071:0.0:0.6929	.	13;13;13;13;13;13;13	Q99706;Q8N741;Q99706-4;Q99706-2;Q8N736;Q99706-3;Q8N738	KI2L4_HUMAN;.;.;.;.;.;.	H	13;13;13;13;13;11	ENSP00000351988:L13H;ENSP00000339634:L13H;ENSP00000350088:L13H;ENSP00000379588:L13H;ENSP00000345331:L13H;ENSP00000379584:L11H	ENSP00000339634:L13H	L	+	2	0	KIR2DL4	60006956	0.990000	0.36364	0.386000	0.26170	0.133000	0.20885	0.443000	0.21644	-0.045000	0.13468	0.113000	0.15668	CTT		0.577	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		A	55315144	T	A	55315144	1	1	293	0	1	0	0	0	0	0	0	0	8318	1609	56	5		5	KIR2DL4	19	55315144	Intron	SNP	T	TCGA-25-1324-01A-01W-0490-10	75902	55315144	3813839	34	16118											
UBE2M	9040	hgsc.bcm.edu	37	19	59068073	59068073	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr19:59068073C>T	ENST00000253023.3	-	4	906	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	CHMP2A_ENST00000601220.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	110					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)	p.V110I(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTGAGGCAGACGTTGCCCTCG	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											88	78	81					19																	59068073		2203	4300	6503	63759885	SO:0001583	missense	9040			AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"Ubiquitin-conjugating enzymes E2"	12491	protein-coding gene	gene with protein product		603173	"ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)", "ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.328G>A	19.37:g.59068073C>T	ENSP00000253023:p.Val110Ile		63759885	O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473574	0.43942	.	.	ENSG00000130725	ENST00000253023	T	0.72835	-0.69	4.77	3.73	0.42828	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000017	T	0.56396	0.1982	L	0.31065	0.9	0.48511	D	0.999669	P	0.44090	0.826	B	0.41646	0.362	T	0.51616	-0.8683	10	0.19147	T	0.46	-28.0597	10.9527	0.47339	0.0:0.9085:0.0:0.0915	.	110	P61081	UBC12_HUMAN	I	110	ENSP00000253023:V110I	ENSP00000253023:V110I	V	-	1	0	UBE2M	63759885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.783000	0.62403	1.384000	0.46424	0.655000	0.94253	GTC		0.587	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		T	59068073	C	T	59068073	3	4	293	1	0	0	0	0	1	0	0	0	16865	536	19	1	235	1	UBE2M	19	59068073	Missense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10	3752929	59068073	60910	35	16119											
MORC3	23515	hgsc.bcm.edu	37	21	37744777	37744777	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr21:37744777G>A	ENST00000400485.1	+	16	2690	c.2614G>A	c.(2614-2616)Gtt>Att	p.V872I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	872					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.V872I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGCAACAGATGTTTCAACATC	0.368																																																1	Substitution - Missense(1)	ovary(1)	21											143	132	135					21																	37744777		1848	4103	5951	36666647	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2614G>A	21.37:g.37744777G>A	ENSP00000383333:p.Val872Ile		36666647	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724388	0.68959	.	.	ENSG00000159256	ENST00000400485	D	0.87334	-2.24	5.6	4.71	0.59529	.	0.639196	0.16071	N	0.231017	T	0.81744	0.4887	L	0.47716	1.5	0.24601	N	0.993779	B	0.31435	0.323	B	0.25884	0.064	T	0.72975	-0.4128	10	0.37606	T	0.19	-9.8741	12.2016	0.54328	0.0784:0.0:0.9216:0.0	.	872	Q14149	MORC3_HUMAN	I	872	ENSP00000383333:V872I	ENSP00000383333:V872I	V	+	1	0	MORC3	36666647	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.333000	0.52090	2.629000	0.89072	0.491000	0.48974	GTT		0.368	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		A	37744777	G	A	37744777	3	1	293	1	0	0	0	0	1	0	0	0	9703	1377	48	2	2676	2	MORC3	21	37744777	Missense_Mutation	SNP	G	TCGA-25-1324-01A-01W-0490-10		37744777	10385118	36	16120											
MTMR3	8897	hgsc.bcm.edu	37	22	30416336	30416338	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr22:30416336_30416338delGTC	ENST00000401950.2	+	17	3030_3032	c.2688_2690delGTC	c.(2686-2691)gggtct>ggt	p.S897del	MTMR3_ENST00000351488.3_In_Frame_Del_p.S897del|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_In_Frame_Del_p.S761del|MTMR3_ENST00000406629.1_In_Frame_Del_p.S897del|MTMR3_ENST00000333027.3_In_Frame_Del_p.S897del|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	897					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.S897delS(2)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCAAGTGGGGTCTGTGGTGCAT	0.542																																																2	Deletion - In frame(2)	ovary(2)	22																																								28746338	SO:0001651	inframe_deletion	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2688_2690delGTC	22.37:g.30416336_30416338delGTC	ENSP00000384651:p.Ser897del		28746336	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	In_Frame_Del	DEL	ENST00000401950.2	37	CCDS13870.1																																																																																				0.542	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		-	30416338	GTC	-	30416336	7	5	293	1	0	1	0	1	0	0	0	0	9945	1248	44	0	2746	0	MTMR3	22	30416336	In_Frame_Del	DEL	GTC	TCGA-25-1324-01A-01W-0490-10		30416336	20888230	37	16121											
ZC3H7B	23264	hgsc.bcm.edu	37	22	41735146	41735146	+	Nonsense_Mutation	SNP	C	C	G			TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chr22:41735146C>G	ENST00000352645.4	+	9	1024	c.767C>G	c.(766-768)tCa>tGa	p.S256*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.S256*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	272					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S256*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GATGACTTCTCAGACGGGGAT	0.657																																																1	Substitution - Nonsense(1)	ovary(1)	22											99	83	88					22																	41735146		2203	4300	6503	40065092	SO:0001587	stop_gained	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.767C>G	22.37:g.41735146C>G	ENSP00000345793:p.Ser256*		40065092	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Nonsense_Mutation	SNP	ENST00000352645.4	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	C	38	6.996453	0.97990	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	4.98	4.98	0.66077	.	0.202184	0.34156	N	0.004213	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-16.0155	18.2407	0.89967	0.0:1.0:0.0:0.0	.	.	.	.	X	256	.	ENSP00000263243:S256X	S	+	2	0	ZC3H7B	40065092	0.999000	0.42202	0.955000	0.39395	0.925000	0.55904	5.280000	0.65603	2.286000	0.76751	0.561000	0.74099	TCA		0.657	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		G	41735146	C	G	41735146	4	3	293	1	0	0	0	0	0	1	0	0	17573	838	29	3	797	3	ZC3H7B	22	41735146	Nonsense_Mutation	SNP	C	TCGA-25-1324-01A-01W-0490-10	11318810	41735146	9569420	38	16122											
GPR50	9248	hgsc.bcm.edu	37	X	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-	rs377556761|rs199797606|rs68058591|rs200787393		TCGA-25-1324-01A-01W-0490-10	TCGA-25-1324-10A-01W-0490-10	CACCACTGGCCA	CACCACTGGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	39169cdc-53c2-4767-836b-037e00949213	a4c924a3-8301-4d32-be95-7d4796e1dd55	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8647286, ECO:0000269|Ref.2}.		cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608																																																1	Deletion - In frame(1)	ovary(1)	X								1488,2015		315,617,241,554,290						2.6	0		dbSNP_130	100	2487,3842		404,1011,668,899,1033	no	coding	GPR50	NM_004224.3		719,1628,909,1453,1323	A1A1,A1R,A1,RR,R		39.2953,42.4779,40.4292				3975,5857				150100227	SO:0001651	inframe_deletion	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1503_1514delCACCACTGGCCA	X.37:g.150349558_150349569delCACCACTGGCCA	ENSP00000218316:p.Thr502_His505del		150100216	Q0VGG3|Q3ZAR0	In_Frame_Del	DEL	ENST00000218316.3	37	CCDS44012.1																																																																																				0.608	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		-	150349569	CACCACTGGCCA	-	150349558	7	5	293	1	0	1	0	1	0	0	0	0	6697	581	21	0	1509	0	GPR50	23	150349558	In_Frame_Del	DEL	CACCACTGGCCA	TCGA-25-1324-01A-01W-0490-10		150349558	4921002	39	16123											
APITD1	378708	hgsc.bcm.edu	37	1	10493919	10493919	+	Missense_Mutation	SNP	C	C	G	rs540291030		TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr1:10493919C>G	ENST00000309048.3	+	2	147	c.72C>G	c.(70-72)caC>caG	p.H24Q	APITD1_ENST00000602296.1_Missense_Mutation_p.H24Q|APITD1-CORT_ENST00000470413.2_Missense_Mutation_p.H24Q|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.H24Q|APITD1_ENST00000602787.1_Missense_Mutation_p.H24Q|APITD1_ENST00000462462.1_Intron	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	24					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.H24Q(1)		kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CAGCAGTTCACTATACTGTGG	0.448													C|||	1	0.000199681	8e-04	0	5008	,	,		21469	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											136	130	132					1																	10493919		2203	4300	6503	10416506	SO:0001583	missense	378708			BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"centromere protein S"	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.72C>G	1.37:g.10493919C>G	ENSP00000308583:p.His24Gln		10416506	Q8NFE5|Q8NFG5	Missense_Mutation	SNP	ENST00000309048.3	37	CCDS115.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305701	0.60305	.	.	ENSG00000175279;ENSG00000175279;ENSG00000175279;ENSG00000251503;ENSG00000251503	ENST00000556104;ENST00000556817;ENST00000309048;ENST00000400900;ENST00000470413	.	.	.	5.8	3.95	0.45737	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	M	0.73962	2.25	0.38468	D	0.947408	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.982	T	0.69273	-0.5188	9	0.20519	T	0.43	-16.4066	9.6651	0.39979	0.0:0.7765:0.0:0.2235	.	24;24	Q8N2Z9-2;Q8N2Z9	.;CENPS_HUMAN	Q	24	.	ENSP00000383692:H24Q	H	+	3	2	APITD1-CORT;APITD1	10416506	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.024000	0.41049	0.815000	0.34398	-0.123000	0.14984	CAC		0.448	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2	NM_199294		G	10493919	C	G	10493919	3	3	294	1	0	0	0	0	1	0	0	0	775	564	20	3	78	3	APITD1	1	10493919	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10		10493919	238756702	1	16124											
LCT	3938	hgsc.bcm.edu	37	2	136566475	136566475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr2:136566475G>A	ENST00000264162.2	-	8	3452	c.3442C>T	c.(3442-3444)Cag>Tag	p.Q1148*	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1148	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.Q1148*(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGGGAGAACTGCAGCATTCGG	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	2											72	74	73					2																	136566475		2203	4300	6503	136282945	SO:0001587	stop_gained	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3442C>T	2.37:g.136566475G>A	ENSP00000264162:p.Gln1148*		136282945	Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	37	6.609877	0.97701	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	.	.	.	5.66	5.66	0.87406	.	0.156603	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.853	19.7554	0.96287	0.0:0.0:1.0:0.0	.	.	.	.	X	1148;580	.	ENSP00000264162:Q1148X	Q	-	1	0	LCT	136282945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.017000	0.88712	2.665000	0.90641	0.563000	0.77884	CAG		0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136566475	G	A	136566475	4	1	294	1	0	0	0	0	0	1	0	0	8693	1328	46	2	2381	2	LCT	2	136566475	Nonsense_Mutation	SNP	G	TCGA-25-1325-01A-01W-0490-10		136566475	106632898	2	16125											
LTF	4057	hgsc.bcm.edu	37	3	46497428	46497428	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr3:46497428C>G	ENST00000231751.4	-	4	652	c.357G>C	c.(355-357)aaG>aaC	p.K119N	LTF_ENST00000426532.2_Missense_Mutation_p.K75N|LTF_ENST00000417439.1_Missense_Mutation_p.K119N	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	119	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.K119N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		AGCTGCCGCCCTTCTTCACCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	3											54	52	53					3																	46497428		2203	4300	6503	46472432	SO:0001583	missense	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.357G>C	3.37:g.46497428C>G	ENSP00000231751:p.Lys119Asn		46472432	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431887	0.25813	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000431944;ENST00000415180	T;T;T;T;T;T	0.39229	2.13;2.13;2.13;2.13;1.09;1.09	4.89	-3.6	0.04570	.	0.255107	0.45361	N	0.000379	T	0.45796	0.1360	M	0.85197	2.74	0.36371	D	0.861327	B;B;B	0.28552	0.215;0.012;0.215	B;B;B	0.37780	0.258;0.019;0.258	T	0.46871	-0.9160	10	0.56958	D	0.05	-2.1613	8.3451	0.32268	0.0:0.2577:0.1221:0.6202	.	119;106;119	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	N	119;75;119;106;130;75	ENSP00000231751:K119N;ENSP00000405719:K75N;ENSP00000405546:K119N;ENSP00000397427:K106N;ENSP00000395234:K130N;ENSP00000400254:K75N	ENSP00000231751:K119N	K	-	3	2	LTF	46472432	0.000000	0.05858	0.009000	0.14445	0.399000	0.30720	-0.584000	0.05800	-0.719000	0.04942	-0.345000	0.07892	AAG		0.532	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		G	46497428	C	G	46497428	3	3	294	1	0	0	0	0	1	0	0	0	9079	680	24	3	1831	3	LTF	3	46497428	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10		46497428	151525002	3	16126											
EPHA3	2042	hgsc.bcm.edu	37	3	89259341	89259341	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr3:89259341T>A	ENST00000336596.2	+	3	710	c.485T>A	c.(484-486)cTg>cAg	p.L162Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.L162Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.L162Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	162	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.L162Q(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GACCGTATTCTGAAGCTCAAC	0.423										TSP Lung(6;0.00050)																																						1	Substitution - Missense(1)	ovary(1)	3											153	135	141					3																	89259341		2203	4300	6503	89342031	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.485T>A	3.37:g.89259341T>A	ENSP00000337451:p.Leu162Gln		89342031	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117451	0.77323	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.10573	2.86;2.86;2.86	5.7	5.7	0.88788	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.87578	0.998;0.865	T	0.00706	-1.1601	9	.	.	.	.	15.9692	0.79998	0.0:0.0:0.0:1.0	.	162;162	P29320;P29320-2	EPHA3_HUMAN;.	Q	162	ENSP00000337451:L162Q;ENSP00000399926:L162Q;ENSP00000419190:L162Q	.	L	+	2	0	EPHA3	89342031	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	8.040000	0.89188	2.162000	0.67917	0.528000	0.53228	CTG		0.423	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		A	89259341	T	A	89259341	3	1	294	1	0	0	0	0	1	0	0	0	5168	1580	55	5	495	5	EPHA3	3	89259341	Missense_Mutation	SNP	T	TCGA-25-1325-01A-01W-0490-10	42761913	89259341	108763089	4	16127											
EIF2B5	8893	hgsc.bcm.edu	37	3	183860379	183860379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr3:183860379C>T	ENST00000273783.3	+	10	1656	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	EIF2B5_ENST00000444495.1_Nonsense_Mutation_p.Q512*	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	512					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.Q512*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGAACTGCAGCAGAATCTGTG	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	3											47	49	48					3																	183860379		2203	4300	6503	185343073	SO:0001587	stop_gained	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1534C>T	3.37:g.183860379C>T	ENSP00000273783:p.Gln512*		185343073	Q541Z1|Q96D04	Nonsense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	35	5.485501	0.96323	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	.	.	.	5.73	5.73	0.89815	.	0.242207	0.43747	D	0.000539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	14.705	0.69183	0.145:0.855:0.0:0.0	.	.	.	.	X	512;512;268	.	ENSP00000273783:Q512X	Q	+	1	0	EIF2B5	185343073	1.000000	0.71417	0.991000	0.47740	0.239000	0.25481	4.339000	0.59322	2.711000	0.92665	0.561000	0.74099	CAG		0.488	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			T	183860379	C	T	183860379	4	4	294	1	0	0	0	0	0	1	0	0	5004	711	25	2	1572	2	EIF2B5	3	183860379	Nonsense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10	94601038	183860379	14162051	5	16128											
RFC4	5984	hgsc.bcm.edu	37	3	186522459	186522459	+	Missense_Mutation	SNP	G	G	A	rs146612878		TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr3:186522459G>A	ENST00000392481.2	-	2	325	c.44C>T	c.(43-45)cCg>cTg	p.P15L	RFC4_ENST00000433496.1_Missense_Mutation_p.P15L|RFC4_ENST00000296273.2_Missense_Mutation_p.P15L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	15					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.P15L(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTTGGTCAGCGGGGGTTTAGT	0.453																																																1	Substitution - Missense(1)	ovary(1)	3						G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	150	135	140		44,44	3.5	0	3	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFC4	NM_002916.3,NM_181573.2	98,98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	15/364,15/364	186522459	2,13004	2203	4300	6503	188005153	SO:0001583	missense	5984				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.44C>T	3.37:g.186522459G>A	ENSP00000376272:p.Pro15Leu		188005153	B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	G	0.831	-0.745194	0.03065	2.27E-4	1.16E-4	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345;ENST00000427785;ENST00000448497;ENST00000411792	T;T;T;T;T;T;T	0.41758	2.31;2.3;2.3;0.99;1.03;1.02;1.02	5.4	3.53	0.40419	.	0.332861	0.31697	N	0.007208	T	0.29458	0.0734	L	0.34521	1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17319	-1.0373	10	0.30078	T	0.28	3.0699	9.1548	0.36985	0.0841:0.0:0.7665:0.1493	.	15;15	B4DM41;P35249	.;RFC4_HUMAN	L	15	ENSP00000399769:P15L;ENSP00000376272:P15L;ENSP00000296273:P15L;ENSP00000411300:P15L;ENSP00000413065:P15L;ENSP00000407982:P15L;ENSP00000415099:P15L	ENSP00000296273:P15L	P	-	2	0	RFC4	188005153	0.010000	0.17322	0.006000	0.13384	0.025000	0.11179	1.246000	0.32803	0.232000	0.21100	-1.119000	0.02030	CCG		0.453	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		A	186522459	G	A	186522459	3	1	294	1	0	0	0	0	1	0	0	0	13250	1116	39	1	1087	1	RFC4	3	186522459	Missense_Mutation	SNP	G	TCGA-25-1325-01A-01W-0490-10	2662080	186522459	11499971	6	16129											
ANKRD17	26057	hgsc.bcm.edu	37	4	73951077	73951077	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr4:73951077G>C	ENST00000358602.4	-	30	7164	c.7048C>G	c.(7048-7050)Cag>Gag	p.Q2350E	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q2099E|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2237E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2350					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q2350E(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCGTACATCTGACCTCCTGAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	4											124	127	126					4																	73951077		2203	4300	6503	74169941	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7048C>G	4.37:g.73951077G>C	ENSP00000351416:p.Gln2350Glu		74169941	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323419	0.60634	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.66815	-0.23;-0.19;-0.17	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000005	T	0.61924	0.2386	L	0.34521	1.04	0.34691	D	0.725761	B;B;B;B	0.27656	0.108;0.184;0.066;0.038	B;B;B;B	0.29176	0.069;0.099;0.032;0.021	T	0.67023	-0.5775	10	0.62326	D	0.03	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	2349;2099;2350;2237	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	E	2350;1757;2099;2237;734	ENSP00000351416:Q2350E;ENSP00000332265:Q2099E;ENSP00000427151:Q2237E	ENSP00000332265:Q2099E	Q	-	1	0	ANKRD17	74169941	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.103000	0.77014	2.906000	0.99361	0.655000	0.94253	CAG		0.453	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		C	73951077	G	C	73951077	3	2	294	1	0	0	0	0	1	0	0	0	646	1299	45	3	783	3	ANKRD17	4	73951077	Missense_Mutation	SNP	G	TCGA-25-1325-01A-01W-0490-10		73951077	117203199	7	16130											
CENPE	1062	hgsc.bcm.edu	37	4	104068670	104068670	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr4:104068670A>G	ENST00000265148.3	-	29	4066	c.3977T>C	c.(3976-3978)aTa>aCa	p.I1326T	CENPE_ENST00000380026.3_Missense_Mutation_p.I1301T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1326					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.I1326T(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCCATTTCTATTCTTGCCAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											194	180	185					4																	104068670		2203	4300	6503	104288119	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3977T>C	4.37:g.104068670A>G	ENSP00000265148:p.Ile1326Thr		104288119	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468847	0.43839	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70045	-0.45;-0.45	5.02	1.04	0.20106	.	.	.	.	.	T	0.54255	0.1847	L	0.58101	1.795	0.21064	N	0.999798	B;B	0.23540	0.002;0.087	B;B	0.15052	0.003;0.012	T	0.38950	-0.9637	9	0.25751	T	0.34	.	3.5253	0.07757	0.6528:0.0:0.184:0.1632	.	1301;1326	Q02224-3;Q02224	.;CENPE_HUMAN	T	1326;1326;1301	ENSP00000265148:I1326T;ENSP00000369365:I1301T	ENSP00000265148:I1326T	I	-	2	0	CENPE	104288119	0.001000	0.12720	0.100000	0.21137	0.961000	0.63080	0.107000	0.15375	-0.044000	0.13491	0.477000	0.44152	ATA		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	104068670	A	G	104068670	3	3	294	1	0	0	0	0	1	0	0	0	3230	449	16	4	4212	4	CENPE	4	104068670	Missense_Mutation	SNP	A	TCGA-25-1325-01A-01W-0490-10	30117593	104068670	87085606	8	16131											
ENPEP	2028	hgsc.bcm.edu	37	4	111434637	111434637	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr4:111434637C>G	ENST00000265162.5	+	7	1717	c.1375C>G	c.(1375-1377)Cca>Gca	p.P459A	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	459					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P459A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GTCTTCGCATCCAATTATTGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											187	172	177					4																	111434637		2203	4300	6503	111654086	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1375C>G	4.37:g.111434637C>G	ENSP00000265162:p.Pro459Ala		111654086	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.80|19.80	3.895519|3.895519	0.72639|0.72639	.|.	.|.	ENSG00000250511|ENSG00000138792	ENST00000503998|ENST00000265162	.|T	.|0.07688	.|3.17	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30572|0.30572	0.0769|0.0769	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69479	.|0.964	T|T	0.01178|0.01178	-1.1427|-1.1427	5|10	.|0.59425	.|D	.|0.04	.|.	19.2999|19.2999	0.94140|0.94140	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|459	.|Q07075	.|AMPE_HUMAN	A|A	110|459	.|ENSP00000265162:P459A	.|ENSP00000265162:P459A	G|P	-|+	2|1	0|0	RP11-380D23.1|ENPEP	111654086|111654086	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.344000|0.344000	0.29017|0.29017	7.445000|7.445000	0.80570|0.80570	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GGA|CCA		0.358	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			G	111434637	C	G	111434637	3	3	294	1	0	0	0	0	1	0	0	0	5128	855	30	3	1401	3	ENPEP	4	111434637	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10	7365967	111434637	79719639	9	16132											
FAT4	79633	hgsc.bcm.edu	37	4	126336552	126336552	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr4:126336552T>A	ENST00000394329.3	+	5	6447	c.6434T>A	c.(6433-6435)cTt>cAt	p.L2145H	FAT4_ENST00000335110.5_Missense_Mutation_p.L443H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2145	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L2145H(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTTATGGTACTTGACATCAAT	0.378																																																2	Substitution - Missense(2)	ovary(2)	4											88	83	85					4																	126336552		2203	4300	6503	126556002	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6434T>A	4.37:g.126336552T>A	ENSP00000377862:p.Leu2145His		126556002	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662961	0.47572	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01821	4.62;4.62	5.42	5.42	0.78866	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31415	U	0.007695	T	0.13884	0.0336	M	0.90309	3.105	0.51767	D	0.999932	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.00738	-1.1587	10	0.56958	D	0.05	.	15.472	0.75446	0.0:0.0:0.0:1.0	.	443;2145	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	H	2145;443	ENSP00000377862:L2145H;ENSP00000335169:L443H	ENSP00000335169:L443H	L	+	2	0	FAT4	126556002	0.998000	0.40836	0.935000	0.37517	0.486000	0.33341	6.034000	0.70933	2.054000	0.61138	0.455000	0.32223	CTT		0.378	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126336552	T	A	126336552	3	1	294	1	0	0	0	0	1	0	0	0	5692	1609	56	5	6452	5	FAT4	4	126336552	Missense_Mutation	SNP	T	TCGA-25-1325-01A-01W-0490-10	14901915	126336552	64817724	10	16133											
ITK	3702	hgsc.bcm.edu	37	5	156675970	156675970	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr5:156675970C>G	ENST00000422843.3	+	16	1896	c.1744C>G	c.(1744-1746)Ctg>Gtg	p.L582V	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	582	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L582V(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CAAGCCCCGGCTGGCCTCCAC	0.498			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - Missense(1)	ovary(1)	5											114	96	102					5																	156675970		2203	4300	6503	156608548	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1744C>G	5.37:g.156675970C>G	ENSP00000398655:p.Leu582Val		156608548	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370545	0.42003	.	.	ENSG00000113263	ENST00000422843	D	0.82711	-1.64	5.71	3.01	0.34805	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.78735	0.4330	L	0.50847	1.595	0.40495	D	0.980585	P	0.44344	0.833	P	0.45829	0.494	T	0.77094	-0.2715	10	0.66056	D	0.02	.	5.5737	0.17210	0.1295:0.5987:0.0:0.2718	.	582	Q08881	ITK_HUMAN	V	582	ENSP00000398655:L582V	ENSP00000398655:L582V	L	+	1	2	ITK	156608548	0.002000	0.14202	0.663000	0.29738	0.855000	0.48748	0.017000	0.13399	0.796000	0.33947	0.650000	0.86243	CTG		0.498	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			G	156675970	C	G	156675970	3	3	294	1	0	0	0	0	1	0	0	0	7909	796	28	3	1806	3	ITK	5	156675970	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10		156675970	24239290	11	16134											
MAN1A1	4121	hgsc.bcm.edu	37	6	119510873	119510873	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr6:119510873C>A	ENST00000368468.3	-	10	1943	c.1502G>T	c.(1501-1503)gGg>gTg	p.G501V		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	501					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.G501V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AATTTCAGCCCCGAGTTCAAG	0.498																																					Ovarian(136;8 1825 12608 33541 47587)											1	Substitution - Missense(1)	ovary(1)	6											142	139	140					6																	119510873		2203	4300	6503	119552572	SO:0001583	missense	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1502G>T	6.37:g.119510873C>A	ENSP00000357453:p.Gly501Val		119552572	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604170	0.66445	.	.	ENSG00000111885	ENST00000368468	T	0.73789	-0.78	5.52	5.52	0.82312	.	0.055863	0.64402	D	0.000001	D	0.89553	0.6748	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92447	0.5967	10	0.87932	D	0	-5.6292	14.9704	0.71229	0.0:0.8577:0.1423:0.0	.	501	P33908	MA1A1_HUMAN	V	501	ENSP00000357453:G501V	ENSP00000357453:G501V	G	-	2	0	MAN1A1	119552572	1.000000	0.71417	0.942000	0.38095	0.389000	0.30415	5.212000	0.65225	2.596000	0.87737	0.655000	0.94253	GGG		0.498	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		A	119510873	C	A	119510873	3	1	294	1	0	0	0	0	1	0	0	0	9210	623	22	3	475	3	MAN1A1	6	119510873	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10		119510873	51604194	12	16135											
LAMA2	3908	hgsc.bcm.edu	37	6	129636953	129636953	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr6:129636953C>T	ENST00000421865.2	+	26	3831	c.3782C>T	c.(3781-3783)gCt>gTt	p.A1261V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1261	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.A1261V(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATTTCGAGGCTCGGGAAGAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	6											111	112	112					6																	129636953		2203	4300	6503	129678646	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3782C>T	6.37:g.129636953C>T	ENSP00000400365:p.Ala1261Val		129678646	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116396	0.94385	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.35789	1.29	5.55	5.55	0.83447	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.41395	-0.9511	10	0.51188	T	0.08	.	19.8741	0.96863	0.0:1.0:0.0:0.0	.	1261;1261	A6NF00;P24043	.;LAMA2_HUMAN	V	1261	ENSP00000400365:A1261V	ENSP00000346769:A1261V	A	+	2	0	LAMA2	129678646	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.442000	0.80503	2.761000	0.94854	0.655000	0.94253	GCT		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129636953	C	T	129636953	3	4	294	1	0	0	0	0	1	0	0	0	8606	797	28	2	3884	2	LAMA2	6	129636953	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10	10126080	129636953	41478114	13	16136											
PLG	5340	hgsc.bcm.edu	37	6	161143590	161143590	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr6:161143590A>T	ENST00000308192.9	+	10	1310	c.1247A>T	c.(1246-1248)tAc>tTc	p.Y416F		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	416	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Y416F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAGAAAACTACCCAAATGCG	0.473																																																1	Substitution - Missense(1)	ovary(1)	6											118	117	117					6																	161143590		2203	4300	6503	161063580	SO:0001583	missense	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1247A>T	6.37:g.161143590A>T	ENSP00000308938:p.Tyr416Phe		161063580	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	0.359	-0.940423	0.02322	.	.	ENSG00000122194	ENST00000308192	T	0.61980	0.06	5.18	-10.4	0.00318	Kringle (4);Kringle-like fold (1);	0.655352	0.12050	N	0.504223	T	0.13114	0.0318	N	0.25060	0.705	0.19300	N	0.999976	B	0.02656	0.0	B	0.12156	0.007	T	0.09271	-1.0682	10	0.07813	T	0.8	.	11.8293	0.52285	0.6792:0.0574:0.0:0.2635	.	416	P00747	PLMN_HUMAN	F	416	ENSP00000308938:Y416F	ENSP00000308938:Y416F	Y	+	2	0	PLG	161063580	0.015000	0.18098	0.303000	0.25071	0.310000	0.27922	-0.710000	0.05024	-4.123000	0.00071	-0.527000	0.04329	TAC		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161143590	A	T	161143590	3	4	294	1	0	0	0	0	1	0	0	0	12086	391	14	5	1289	5	PLG	6	161143590	Missense_Mutation	SNP	A	TCGA-25-1325-01A-01W-0490-10	31506637	161143590	9971477	14	16137											
ABCA1	19	hgsc.bcm.edu	37	9	107560700	107560700	+	Splice_Site	SNP	A	A	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr9:107560700A>G	ENST00000374736.3	-	37	5516		c.e37+1			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTGTGTCCTTACCATATCCCA	0.468																																																1	Unknown(1)	ovary(1)	9											108	102	104					9																	107560700		2203	4300	6503	106600521	SO:0001630	splice_region_variant	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5121+1T>C	9.37:g.107560700A>G			106600521	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700898	0.88924	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8216	0.78654	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA1	106600521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.231000	0.95317	2.199000	0.70637	0.533000	0.62120	.		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Intron	G	107560700	A	G	107560700	5	3	294	1	0	0	0	0	0	0	1	0	28	405	14	4	1718	4	ABCA1	9	107560700	Splice_Site	SNP	A	TCGA-25-1325-01A-01W-0490-10		107560700	33652731	15	16138											
CYP2C18	1562	hgsc.bcm.edu	37	10	96447894	96447894	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr10:96447894G>C	ENST00000285979.6	+	3	543	c.344G>C	c.(343-345)aGc>aCc	p.S115T	CYP2C18_ENST00000339022.5_Missense_Mutation_p.S115T	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	115					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.S115T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	ATCCTTTTCAGCAATGGAAAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											94	84	87					10																	96447894		2203	4300	6503	96437884	SO:0001583	missense	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.344G>C	10.37:g.96447894G>C	ENSP00000285979:p.Ser115Thr		96437884	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332841	0.41297	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69685	-0.42;-0.42	4.54	4.54	0.55810	.	0.000000	0.85682	U	0.000000	T	0.69584	0.3127	M	0.71036	2.16	0.20307	N	0.999915	B;B	0.32543	0.153;0.375	B;B	0.38755	0.095;0.281	T	0.67118	-0.5751	10	0.59425	D	0.04	.	14.7821	0.69774	0.0:0.0:1.0:0.0	.	115;115	Q4VAT5;P33260	.;CP2CI_HUMAN	T	115	ENSP00000341293:S115T;ENSP00000285979:S115T	ENSP00000285979:S115T	S	+	2	0	CYP2C18	96437884	0.987000	0.35691	0.994000	0.49952	0.527000	0.34593	1.383000	0.34385	2.061000	0.61500	0.306000	0.20318	AGC		0.507	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		C	96447894	G	C	96447894	3	2	294	1	0	0	0	0	1	0	0	0	4165	971	34	3	354	3	CYP2C18	10	96447894	Missense_Mutation	SNP	G	TCGA-25-1325-01A-01W-0490-10		96447894	39086853	16	16139											
PHB2	11331	hgsc.bcm.edu	37	12	7079398	7079398	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr12:7079398A>T	ENST00000535923.1	-	2	454	c.173T>A	c.(172-174)gTg>gAg	p.V58E	SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000546111.1_Missense_Mutation_p.V58E|PHB2_ENST00000544134.1_5'UTR|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000440277.1_Missense_Mutation_p.V58E|PHB2_ENST00000399433.2_Missense_Mutation_p.V58E|PHB2_ENST00000542912.1_Missense_Mutation_p.V58E	NM_001144831.1	NP_001138303.1			prohibitin 2									p.V58E(1)		ovary(2)|pancreas(1)	3						GTCCTGCTGCACTCCACCGAT	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											136	141	140					12																	7079398		2057	4188	6245	6949659	SO:0001583	missense	11331			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.173T>A	12.37:g.7079398A>T	ENSP00000441875:p.Val58Glu		6949659		Missense_Mutation	SNP	ENST00000535923.1	37	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413814	0.83449	.	.	ENSG00000215021	ENST00000546111;ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316;ENST00000544134	D;D;D;D;D;D;T	0.94897	-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;1.1	4.68	4.68	0.58851	.	0.073354	0.53938	U	0.000047	D	0.97873	0.9301	H	0.95611	3.695	0.53688	D	0.999972	D;D;D	0.57899	0.958;0.981;0.98	D;D;D	0.67725	0.936;0.953;0.936	D	0.99023	1.0818	10	0.87932	D	0	-18.2266	14.2441	0.65975	1.0:0.0:0.0:0.0	.	58;58;58	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	E	58	ENSP00000441875:V58E;ENSP00000440317:V58E;ENSP00000382362:V58E;ENSP00000412856:V58E;ENSP00000441662:V58E;ENSP00000439029:V58E;ENSP00000445972:V58E	ENSP00000382362:V58E	V	-	2	0	PHB2	6949659	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	8.724000	0.91462	2.088000	0.63022	0.459000	0.35465	GTG		0.612	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		T	7079398	A	T	7079398	3	4	294	1	0	0	0	0	1	0	0	0	11815	159	6	5	758	5	PHB2	12	7079398	Missense_Mutation	SNP	A	TCGA-25-1325-01A-01W-0490-10		7079398	126772497	17	16140											
ST8SIA1	6489	hgsc.bcm.edu	37	12	22440220	22440220	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr12:22440220T>C	ENST00000396037.4	-	2	725	c.244A>G	c.(244-246)Atg>Gtg	p.M82V	ST8SIA1_ENST00000539510.1_5'UTR	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	82					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.M82V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CAGTCTTCCATTTGTTTCCTA	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											64	66	65					12																	22440220		2203	4300	6503	22331487	SO:0001583	missense	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.244A>G	12.37:g.22440220T>C	ENSP00000379353:p.Met82Val		22331487	A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040244	0.35989	.	.	ENSG00000111728	ENST00000396037;ENST00000540824;ENST00000541868	T;T	0.63255	-0.03;-0.03	5.59	3.12	0.35913	.	0.170707	0.56097	D	0.000040	T	0.45696	0.1355	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.25187	-1.0139	9	.	.	.	-24.4976	6.3192	0.21208	0.0:0.0882:0.2725:0.6393	.	82	Q92185	SIA8A_HUMAN	V	82;33;59	ENSP00000379353:M82V;ENSP00000440292:M59V	.	M	-	1	0	ST8SIA1	22331487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.499000	0.53310	0.962000	0.38057	0.533000	0.62120	ATG		0.438	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		C	22440220	T	C	22440220	3	2	294	1	0	0	0	0	1	0	0	0	15233	1493	52	4	842	4	ST8SIA1	12	22440220	Missense_Mutation	SNP	T	TCGA-25-1325-01A-01W-0490-10	15360822	22440220	111411675	18	16141											
KIAA1409	57578	hgsc.bcm.edu	37	14	94089039	94089039	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr14:94089039A>T	ENST00000393151.2	+	30	5460	c.5460A>T	c.(5458-5460)gaA>gaT	p.E1820D	UNC79_ENST00000553484.1_Missense_Mutation_p.E1842D|UNC79_ENST00000256339.4_Missense_Mutation_p.E1643D|UNC79_ENST00000555664.1_Missense_Mutation_p.E1820D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1820					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1643D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAAGGTGGAAGAGGATGGAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	14											68	62	64					14																	94089039		2203	4300	6503	93158792	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5460A>T	14.37:g.94089039A>T	ENSP00000376858:p.Glu1820Asp		93158792	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	A	11.85	1.761422	0.31228	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19938	2.13;2.11;2.13;2.12	5.57	-2.46	0.06461	.	0.311242	0.33309	N	0.005048	T	0.16471	0.0396	L	0.27053	0.805	0.33008	D	0.527102	B	0.30605	0.287	B	0.38500	0.275	T	0.12502	-1.0545	10	0.45353	T	0.12	-6.1357	13.1497	0.59482	0.3789:0.0:0.6211:0.0	.	1842	C9JQL1	.	D	1643;1820;1842;1820;1842	ENSP00000256339:E1643D;ENSP00000450868:E1820D;ENSP00000451360:E1842D;ENSP00000376858:E1820D	ENSP00000256339:E1643D	E	+	3	2	KIAA1409	93158792	0.972000	0.33761	0.120000	0.21714	0.860000	0.49131	0.191000	0.17076	-0.688000	0.05155	0.397000	0.26171	GAA		0.478	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94089039	A	T	94089039	3	4	294	1	0	0	0	0	1	0	0	0	8230	69	3	5	5035	5	KIAA1409	14	94089039	Missense_Mutation	SNP	A	TCGA-25-1325-01A-01W-0490-10		94089039	13260501	19	16142											
TP53	7157	hgsc.bcm.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	294	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-25-1325-01A-01W-0490-10		7578265	73616945	20	16143											
TOP2A	7153	hgsc.bcm.edu	37	17	38556843	38556843	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr17:38556843C>T	ENST00000423485.1	-	22	2895	c.2737G>A	c.(2737-2739)Gta>Ata	p.V913I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	913					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.V913I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGAATAGCTACTTCACCACTA	0.348																																																1	Substitution - Missense(1)	ovary(1)	17											104	89	94					17																	38556843		1827	4085	5912	35810369	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2737G>A	17.37:g.38556843C>T	ENSP00000411532:p.Val913Ile		35810369	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	4.515	0.095627	0.08681	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.21031	2.03	5.46	3.48	0.39840	DNA topoisomerase, type IIA, subunit A/C-terminal (2);Arginine repressor, C-terminal (1);DNA topoisomerase, type IIA, central (1);	0.053601	0.64402	N	0.000001	T	0.09291	0.0229	N	0.05158	-0.105	0.58432	D	0.999995	B	0.13594	0.008	B	0.24006	0.05	T	0.15780	-1.0425	10	0.02654	T	1	.	12.3943	0.55376	0.0:0.8626:0.0:0.1374	.	913	P11388	TOP2A_HUMAN	I	913;993;936;949	ENSP00000411532:V913I	ENSP00000269577:V993I	V	-	1	0	TOP2A	35810369	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.725000	0.38074	0.807000	0.34208	0.655000	0.94253	GTA		0.348	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			T	38556843	C	T	38556843	3	4	294	1	0	0	0	0	1	0	0	0	16365	565	20	2	1914	2	TOP2A	17	38556843	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10	30978578	38556843	42638367	21	16144											
CDH2	1000	hgsc.bcm.edu	37	18	25563003	25563003	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr18:25563003C>G	ENST00000269141.3	-	14	2677	c.2254G>C	c.(2254-2256)Gaa>Caa	p.E752Q	CDH2_ENST00000399380.3_Missense_Mutation_p.E721Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	752					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.E752Q(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCTGGCGTTCTTTATCCCGG	0.363																																																1	Substitution - Missense(1)	ovary(1)	18											124	123	123					18																	25563003		2203	4300	6503	23817001	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2254G>C	18.37:g.25563003C>G	ENSP00000269141:p.Glu752Gln		23817001	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069501	0.93950	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.76060	-0.99;-0.99	5.82	5.82	0.92795	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85471	0.1173	10	0.62326	D	0.03	.	20.0852	0.97797	0.0:1.0:0.0:0.0	.	721;752	A8MWK3;P19022	.;CADH2_HUMAN	Q	752;721	ENSP00000269141:E752Q;ENSP00000382312:E721Q	ENSP00000269141:E752Q	E	-	1	0	CDH2	23817001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.752000	0.94435	0.655000	0.94253	GAA		0.363	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		G	25563003	C	G	25563003	3	3	294	1	0	0	0	0	1	0	0	0	3105	922	32	3	478	3	CDH2	18	25563003	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10		25563003	52514245	22	16145											
DSG4	147409	hgsc.bcm.edu	37	18	28956906	28956906	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr18:28956906T>C	ENST00000308128.4	+	1	167	c.32T>C	c.(31-33)cTt>cCt	p.L11P	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.L11P	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	11					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L11P(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AACATTTGCCTTTTGATCATT	0.428																																																1	Substitution - Missense(1)	ovary(1)	18											109	93	98					18																	28956906		2203	4300	6503	27210904	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.32T>C	18.37:g.28956906T>C	ENSP00000311859:p.Leu11Pro		27210904	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628232	0.28978	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61980	0.13;0.06	5.99	4.83	0.62350	.	0.000000	0.29806	N	0.011147	T	0.67599	0.2910	L	0.59436	1.845	0.27749	N	0.9442	D;B	0.58620	0.983;0.015	P;B	0.56823	0.807;0.043	T	0.60954	-0.7160	10	0.33141	T	0.24	.	8.958	0.35829	0.0:0.0833:0.0:0.9167	.	11;11	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	P	11	ENSP00000311859:L11P;ENSP00000352785:L11P	ENSP00000311859:L11P	L	+	2	0	DSG4	27210904	0.690000	0.27699	0.726000	0.30738	0.475000	0.33008	2.974000	0.49272	1.086000	0.41228	0.533000	0.62120	CTT		0.428	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		C	28956906	T	C	28956906	3	2	294	1	0	0	0	0	1	0	0	0	4779	1609	56	4	34	4	DSG4	18	28956906	Missense_Mutation	SNP	T	TCGA-25-1325-01A-01W-0490-10	3393903	28956906	49120342	23	16146											
MUC16	94025	hgsc.bcm.edu	37	19	9073806	9073806	+	Nonsense_Mutation	SNP	G	G	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:9073806G>C	ENST00000397910.4	-	3	13843	c.13640C>G	c.(13639-13641)tCa>tGa	p.S4547*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4549	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S4547*(1)|p.S180*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACATGTGCTGAACTGGCAGT	0.498																																																2	Substitution - Nonsense(2)	ovary(2)	19											129	126	127					19																	9073806		2089	4189	6278	8934806	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13640C>G	19.37:g.9073806G>C	ENSP00000381008:p.Ser4547*		8934806	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	54	22.814026	0.99951	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.43	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.2668	0.20932	0.0:0.0:1.0:0.0	.	.	.	.	X	4547	.	ENSP00000381008:S4547X	S	-	2	0	MUC16	8934806	0.000000	0.05858	0.005000	0.12908	0.042000	0.13812	0.166000	0.16583	1.064000	0.40671	0.205000	0.17691	TCA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9073806	G	C	9073806	4	2	294	1	0	0	0	0	0	1	0	0	9973	1294	45	3	30211	3	MUC16	19	9073806	Nonsense_Mutation	SNP	G	TCGA-25-1325-01A-01W-0490-10		9073806	50055177	24	16147											
TMEM59L	25789	hgsc.bcm.edu	37	19	18729060	18729060	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:18729060G>T	ENST00000600490.1	+	7	945	c.760G>T	c.(760-762)Gac>Tac	p.D254Y	TMEM59L_ENST00000262817.3_Missense_Mutation_p.D254Y			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	254						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D254Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						ACAGGACAATGACTTCCTCAG	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											68	49	55					19																	18729060		2203	4300	6503	18590060	SO:0001583	missense	25789			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.760G>T	19.37:g.18729060G>T	ENSP00000470879:p.Asp254Tyr		18590060		Missense_Mutation	SNP	ENST00000600490.1	37	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858708	0.51376	.	.	ENSG00000105696	ENST00000262817	T	0.55588	0.51	4.35	4.35	0.52113	.	0.113707	0.56097	D	0.000022	T	0.62134	0.2403	L	0.61218	1.895	0.80722	D	1	D	0.53312	0.959	P	0.53760	0.734	T	0.67393	-0.5682	10	0.66056	D	0.02	-24.6583	14.4022	0.67056	0.0:0.0:1.0:0.0	.	254	Q9UK28	TM59L_HUMAN	Y	254	ENSP00000262817:D254Y	ENSP00000262817:D254Y	D	+	1	0	TMEM59L	18590060	1.000000	0.71417	0.964000	0.40570	0.820000	0.46376	5.476000	0.66793	2.136000	0.66102	0.561000	0.74099	GAC		0.637	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			T	18729060	G	T	18729060	3	4	294	1	0	0	0	0	1	0	0	0	16186	1290	45	3	782	3	TMEM59L	19	18729060	Missense_Mutation	SNP	G	TCGA-25-1325-01A-01W-0490-10	9655254	18729060	40399923	25	16148											
ZNF615	284370	hgsc.bcm.edu	37	19	52496182	52496182	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:52496182G>C	ENST00000602063.1	-	6	2496	c.2147C>G	c.(2146-2148)gCt>gGt	p.A716G	ZNF615_ENST00000376716.5_Missense_Mutation_p.A716G|ZNF615_ENST00000391795.3_Missense_Mutation_p.A721G|ZNF615_ENST00000594083.1_Missense_Mutation_p.A727G|ZNF615_ENST00000598071.1_Missense_Mutation_p.A727G			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	716					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.A727G(1)|p.A716G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTGCGCAAAAGCTTTCCCACA	0.438																																																2	Substitution - Missense(2)	ovary(2)	19											176	178	177					19																	52496182		2203	4300	6503	57187994	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2147C>G	19.37:g.52496182G>C	ENSP00000473089:p.Ala716Gly		57187994	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755618	0.15846	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.13901	2.55;2.55	3.04	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.03917	-0.325	0.09310	N	0.999999	B;B;B;B	0.31413	0.322;0.275;0.275;0.322	B;B;B;B	0.38056	0.264;0.172;0.172;0.264	T	0.37798	-0.9690	9	0.34782	T	0.22	.	9.7056	0.40214	0.0:0.2137:0.7863:0.0	.	721;723;727;716	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	G	716;726;721;670	ENSP00000365906:A716G;ENSP00000375672:A721G	ENSP00000347019:A726G	A	-	2	0	ZNF615	57187994	0.000000	0.05858	0.665000	0.29768	0.947000	0.59692	-0.965000	0.03829	1.705000	0.51264	0.655000	0.94253	GCT		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		C	52496182	G	C	52496182	3	2	294	1	0	0	0	0	1	0	0	0	18040	971	34	3	52	3	ZNF615	19	52496182	Missense_Mutation	SNP	G	TCGA-25-1325-01A-01W-0490-10	33767122	52496182	6632801	26	16149											
ZNF468	90333	hgsc.bcm.edu	37	19	53345297	53345297	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:53345297C>G	ENST00000595646.1	-	4	370	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	ZNF468_ENST00000243639.4_Missense_Mutation_p.R123T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.E31Q|ZNF468_ENST00000396409.4_Missense_Mutation_p.E31Q			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E84Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AAACAAAATTCTCCAATGTGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	19											157	147	150					19																	53345297		2203	4300	6503	58037109	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.250G>C	19.37:g.53345297C>G	ENSP00000470381:p.Glu84Gln		58037109	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	c	8.201	0.798134	0.16397	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.06849	3.25;3.25	1.2	1.2	0.21068	.	.	.	.	.	T	0.07234	0.0183	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.17722	0.019	T	0.31280	-0.9949	9	0.52906	T	0.07	.	8.2654	0.31810	0.0:1.0:0.0:0.0	.	84	Q5VIY5	ZN468_HUMAN	Q	84;31;31	ENSP00000379690:E31Q;ENSP00000445669:E31Q	ENSP00000243639:E84Q	E	-	1	0	ZNF468	58037109	0.000000	0.05858	0.010000	0.14722	0.155000	0.21991	-0.366000	0.07563	0.949000	0.37715	0.174000	0.16983	GAA		0.423	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		G	53345297	C	G	53345297	3	3	294	1	0	0	0	0	1	0	0	0	17928	922	32	3	1322	3	ZNF468	19	53345297	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10	849115	53345297	5783686	27	16150											
ZNF665	79788	hgsc.bcm.edu	37	19	53669576	53669576	+	De_novo_Start_InFrame	SNP	G	G	A	rs371699472		TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:53669576G>A	ENST00000600412.1	-	0	87				ZNF665_ENST00000396424.3_Missense_Mutation_p.T56M|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						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.T56M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGGCAAATCCGTGTTTACACA	0.383																																																1	Substitution - Missense(1)	ovary(1)	19						G	MET/THR	0,3806		0,0,1903	192	190	190		167	1.5	0	19		190	1,8235		0,1,4117	no	missense	ZNF665	NM_024733.3	81	0,1,6020	AA,AG,GG		0.0121,0.0,0.0083	benign	56/679	53669576	1,12041	1903	4118	6021	58361388			79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5			19.37:g.53669576G>A			58361388	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	G	10.96	1.498210	0.26861	0.0	1.21E-4	ENSG00000197497	ENST00000396424	T	0.05382	3.45	2.55	1.51	0.23008	.	.	.	.	.	T	0.06735	0.0172	.	.	.	0.09310	N	1	D	0.61080	0.989	P	0.44732	0.459	T	0.34153	-0.9840	8	0.48119	T	0.1	.	6.7275	0.23365	0.0:0.0:0.2435:0.7565	.	56	Q9H7R5-2	.	M	56	ENSP00000379702:T56M	ENSP00000379702:T56M	T	-	2	0	ZNF665	58361388	0.014000	0.17966	0.002000	0.10522	0.002000	0.02628	1.916000	0.39986	0.219000	0.20840	-0.426000	0.05927	ACG		0.383	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		A	53669576	G	A	53669576	1	1	294	1	0	1	0	0	0	0	0	0	18073	1145	40	1		1	ZNF665	19	53669576	De_novo_Start_InFrame	SNP	G	TCGA-25-1325-01A-01W-0490-10	324279	53669576	5459407	28	16151											
NLRP5	126206	hgsc.bcm.edu	37	19	56515122	56515122	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1325-01A-01W-0490-10	TCGA-25-1325-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	71809b02-7286-4987-8431-11bd6a69c679	7e7a382a-7021-4725-8a84-30bc838ea117	g.chr19:56515122C>T	ENST00000390649.3	+	2	103	c.103C>T	c.(103-105)Cca>Tca	p.P35S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	35					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.P35S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCTATATTACCAAAGAATCC	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											115	109	111					19																	56515122		1848	4100	5948	61206934	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.103C>T	19.37:g.56515122C>T	ENSP00000375063:p.Pro35Ser		61206934	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	7.285	0.609964	0.14066	.	.	ENSG00000171487	ENST00000390649	T	0.73363	-0.74	3.15	-0.332	0.12675	.	.	.	.	.	T	0.47340	0.1440	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.23018	0.043	T	0.39482	-0.9612	9	0.87932	D	0	.	3.505	0.07686	0.0:0.5341:0.2138:0.2521	.	35	P59047	NALP5_HUMAN	S	35	ENSP00000375063:P35S	ENSP00000375063:P35S	P	+	1	0	NLRP5	61206934	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.119000	0.10676	0.038000	0.15604	-0.311000	0.09066	CCA		0.438	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56515122	C	T	56515122	3	4	294	1	0	0	0	0	1	0	0	0	10480	507	18	2	109	2	NLRP5	19	56515122	Missense_Mutation	SNP	C	TCGA-25-1325-01A-01W-0490-10	2845546	56515122	2613861	29	16152											
EPB41	2035	broad.mit.edu	37	1	29391597	29391597	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:29391597G>C	ENST00000343067.4	+	16	2238	c.2111G>C	c.(2110-2112)tGg>tCg	p.W704S	EPB41_ENST00000347529.3_Missense_Mutation_p.W615S|EPB41_ENST00000373798.1_Missense_Mutation_p.W704S|EPB41_ENST00000373797.1_Missense_Mutation_p.W690S|EPB41_ENST00000373800.3_Missense_Mutation_p.W462S|EPB41_ENST00000349460.4_Missense_Mutation_p.W481S|EPB41_ENST00000398863.2_Missense_Mutation_p.W650S|EPB41_ENST00000356093.2_Missense_Mutation_p.W671S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	704	Spectrin--actin-binding.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.W481S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CCTAGTGAATGGGATAAACGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											136	119	125					1																	29391597		2203	4300	6503	29264184	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2111G>C	1.37:g.29391597G>C	ENSP00000345259:p.Trp704Ser		29264184	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455854	0.84209	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.96136	-2.86;-3.23;-2.04;-3.92;-2.85;-2.31;-2.86;-3.47	5.99	5.99	0.97316	SAB (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D;D;D;P	0.89917	0.993;1.0;0.996;1.0;1.0;1.0;0.999;0.998;0.508	D;D;D;D;D;D;D;D;B	0.97110	0.969;0.997;0.975;1.0;1.0;0.994;0.986;0.994;0.257	D	0.97282	0.9918	10	0.51188	T	0.08	.	19.4659	0.94939	0.0:0.0:1.0:0.0	.	544;650;704;671;690;667;615;462;481	E9PEX0;E9PEW9;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.;.	S	667;704;671;650;544;690;481;462;615;704;690	ENSP00000345259:W704S;ENSP00000348397:W671S;ENSP00000381839:W650S;ENSP00000317597:W481S;ENSP00000362906:W462S;ENSP00000290100:W615S;ENSP00000362904:W704S;ENSP00000362903:W690S	ENSP00000345259:W704S	W	+	2	0	EPB41	29264184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	TGG		0.448	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		C	29391597	G	C	29391597	3	2	295	1	0	0	0	0	1	0	0	0	5151	1357	47	3	2169	3	EPB41	1	29391597	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08		29391597	219859024	1	16153											
NKAIN1	79570	broad.mit.edu	37	1	31654706	31654706	+	Splice_Site	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:31654706C>G	ENST00000373736.2	-	6	621		c.e6+1		NKAIN1_ENST00000263693.1_Splice_Site|NKAIN1_ENST00000398657.2_Splice_Site|NKAIN1_ENST00000528449.1_5'Flank	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		CCGTGACCCACGTGTACAGAG	0.662																																																1	Unknown(1)	ovary(1)	1											20	26	24					1																	31654706		2202	4298	6500	31427293	SO:0001630	splice_region_variant	79570			AK022712	CCDS339.1, CCDS339.2	1p35.2	2010-06-25	2007-10-04	2007-10-04	ENSG00000084628	ENSG00000084628		"Na+/K+ transporting ATPase interacting"	25743	protein-coding gene	gene with protein product		612871	"family with sequence similarity 77, member C"	FAM77C		17606467	Standard	NM_024522		Approved	FLJ12650	uc010ogd.2	Q4KMZ8	OTTHUMG00000003788	ENST00000373736.2:c.614+1G>C	1.37:g.31654706C>G			31427293	A2VDJ3|B7Z5F5|B7Z5W9|Q9H9M7	Splice_Site	SNP	ENST00000373736.2	37	CCDS339.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815793	0.90790	.	.	ENSG00000084628	ENST00000373736;ENST00000263693;ENST00000398657;ENST00000526106	.	.	.	4.74	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5494	0.56218	0.0:0.9201:0.0:0.0799	.	.	.	.	.	-1	.	.	.	-	.	.	NKAIN1	31427293	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.482000	0.66833	1.221000	0.43506	0.561000	0.74099	.		0.662	NKAIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010655.2	NM_024522	Intron	G	31654706	C	G	31654706	5	3	295	1	0	0	0	0	0	0	1	0	10435	550	19	3	16	3	NKAIN1	1	31654706	Splice_Site	SNP	C	TCGA-25-1326-01A-01W-0492-08	2263109	31654706	217595915	2	16154											
PCSK9	255738	broad.mit.edu	37	1	55512296	55512296	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:55512296G>T	ENST00000302118.5	+	3	790	c.500G>T	c.(499-501)cGg>cTg	p.R167L	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.R167L	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	167					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R167L(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCACGGTACCGGGCGGATGAA	0.622																																					Pancreas(137;1454 1827 5886 22361 42375)											1	Substitution - Missense(1)	ovary(1)	1											60	59	59					1																	55512296		2203	4300	6503	55284884	SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.500G>T	1.37:g.55512296G>T	ENSP00000303208:p.Arg167Leu		55284884	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196734	0.38806	.	.	ENSG00000169174	ENST00000302118;ENST00000452118	T;T	0.77098	-1.07;-0.56	4.55	-1.03	0.10102	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	1.726230	0.03275	N	0.185375	T	0.47210	0.1433	N	0.01668	-0.77	0.09310	N	1	B	0.18610	0.029	B	0.12156	0.007	T	0.38112	-0.9676	10	0.25106	T	0.35	-5.7805	1.0035	0.01482	0.3349:0.2839:0.2418:0.1394	.	167	Q8NBP7	PCSK9_HUMAN	L	167	ENSP00000303208:R167L;ENSP00000401598:R167L	ENSP00000303208:R167L	R	+	2	0	PCSK9	55284884	0.003000	0.15002	0.052000	0.19188	0.254000	0.26022	0.282000	0.18829	0.122000	0.18314	-0.367000	0.07326	CGG		0.622	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		T	55512296	G	T	55512296	3	4	295	1	0	0	0	0	1	0	0	0	11606	1116	39	3	510	3	PCSK9	1	55512296	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	23857590	55512296	193738325	3	16155											
MAGI3	260425	broad.mit.edu	37	1	114191913	114191913	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:114191913G>C	ENST00000307546.9	+	13	2285	c.2210G>C	c.(2209-2211)gGc>gCc	p.G737A	MAGI3_ENST00000369615.1_Missense_Mutation_p.G737A|MAGI3_ENST00000369611.4_Missense_Mutation_p.G737A|MAGI3_ENST00000369617.4_Missense_Mutation_p.G762A	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	762					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.G737A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGGTTTGGCTTCAGGGTG	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											126	126	126					1																	114191913		2203	4300	6503	113993436	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2210G>C	1.37:g.114191913G>C	ENSP00000304604:p.Gly737Ala		113993436	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874332	0.91664	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97523	0.9189	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98922	1.0784	10	0.87932	D	0	-20.3727	19.3991	0.94620	0.0:0.0:1.0:0.0	.	737;737;762	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	A	762;737;737;737	ENSP00000358630:G762A;ENSP00000304604:G737A;ENSP00000358628:G737A;ENSP00000358624:G737A	ENSP00000304604:G737A	G	+	2	0	MAGI3	113993436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.212000	0.95126	2.583000	0.87209	0.655000	0.94253	GGC		0.393	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		C	114191913	G	C	114191913	3	2	295	1	0	0	0	0	1	0	0	0	9192	1203	42	3	2260	3	MAGI3	1	114191913	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	58679617	114191913	135058708	4	16156											
CHD1L	9557	broad.mit.edu	37	1	146751843	146751843	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:146751843A>T	ENST00000369258.4	+	15	1704	c.1684A>T	c.(1684-1686)Agc>Tgc	p.S562C	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.S468C|CHD1L_ENST00000361293.5_Missense_Mutation_p.S281C|CHD1L_ENST00000369259.3_Missense_Mutation_p.S358C	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	562					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.S562C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AGAAGGAGGGAGCAGAGATCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											75	69	71					1																	146751843		2203	4300	6503	145218467	SO:0001583	missense	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1684A>T	1.37:g.146751843A>T	ENSP00000358262:p.Ser562Cys		145218467	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155849	0.57259	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;D	0.89617	-2.54;-1.41;-2.45;-1.53	5.96	0.953	0.19590	.	0.937914	0.09256	N	0.827229	D	0.82733	0.5101	L	0.48642	1.525	0.09310	N	1	B;D;P	0.55385	0.429;0.971;0.88	B;P;B	0.53593	0.211;0.73;0.401	T	0.72434	-0.4295	10	0.56958	D	0.05	.	8.1521	0.31148	0.6783:0.0:0.3217:0.0	.	468;358;562	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	C	468;358;562;281	ENSP00000389031:S468C;ENSP00000358263:S358C;ENSP00000358262:S562C;ENSP00000355100:S281C	ENSP00000355100:S281C	S	+	1	0	CHD1L	145218467	0.847000	0.29606	0.009000	0.14445	0.848000	0.48234	2.885000	0.48570	-0.083000	0.12618	0.533000	0.62120	AGC		0.517	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		T	146751843	A	T	146751843	3	4	295	1	0	0	0	0	1	0	0	0	3324	304	11	5	1742	5	CHD1L	1	146751843	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	32559930	146751843	102498778	5	16157											
SV2A	9900	broad.mit.edu	37	1	149881048	149881048	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:149881048G>A	ENST00000369146.3	-	7	1745	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	SV2A_ENST00000369145.1_Missense_Mutation_p.R419C	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	419					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.R419C(2)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACCCCCCAGCGCTGGTACCAG	0.577																																																2	Substitution - Missense(2)	ovary(1)|pancreas(1)	1											70	71	71					1																	149881048		2203	4300	6503	148147672	SO:0001583	missense	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1255C>T	1.37:g.149881048G>A	ENSP00000358142:p.Arg419Cys		148147672	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482079	0.84747	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.71222	0.47;-0.55	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.196250	0.45361	D	0.000374	T	0.78091	0.4229	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.78383	-0.2225	10	0.59425	D	0.04	-14.8051	16.6795	0.85288	0.0:0.0:1.0:0.0	.	419	Q7L0J3	SV2A_HUMAN	C	419	ENSP00000358142:R419C;ENSP00000358141:R419C	ENSP00000358141:R419C	R	-	1	0	SV2A	148147672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.555000	0.60767	2.813000	0.96785	0.655000	0.94253	CGC		0.577	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			A	149881048	G	A	149881048	3	1	295	1	0	0	0	0	1	0	0	0	15417	1087	38	1	1001	1	SV2A	1	149881048	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	3129205	149881048	99369573	6	16158											
ASH1L	55870	broad.mit.edu	37	1	155448981	155448981	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:155448981A>G	ENST00000368346.3	-	3	4319	c.3680T>C	c.(3679-3681)tTt>tCt	p.F1227S	ASH1L_ENST00000392403.3_Missense_Mutation_p.F1227S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1227					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.F1227S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AACATGCTCAAAAGAATGCCT	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											160	166	164					1																	155448981		2203	4300	6503	153715605	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3680T>C	1.37:g.155448981A>G	ENSP00000357330:p.Phe1227Ser		153715605	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	A	12.14	1.849557	0.32699	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90444	-2.67;-2.67	5.16	5.16	0.70880	.	0.138133	0.49916	D	0.000128	T	0.79353	0.4431	N	0.24115	0.695	0.80722	D	1	B;B	0.33044	0.274;0.395	B;B	0.33339	0.078;0.162	T	0.82859	-0.0249	10	0.59425	D	0.04	.	14.8729	0.70471	1.0:0.0:0.0:0.0	.	1227;1227	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	1227	ENSP00000357330:F1227S;ENSP00000376204:F1227S	ENSP00000357330:F1227S	F	-	2	0	ASH1L	153715605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.580000	0.82523	2.181000	0.69327	0.477000	0.44152	TTT		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		G	155448981	A	G	155448981	3	3	295	1	0	0	0	0	1	0	0	0	1041	14	1	4	5318	4	ASH1L	1	155448981	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	5567933	155448981	93801640	7	16159											
DAP3	7818	broad.mit.edu	37	1	155698874	155698874	+	Silent	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:155698874C>T	ENST00000368336.5	+	8	769	c.645C>T	c.(643-645)agC>agT	p.S215S	DAP3_ENST00000421487.2_Silent_p.S181S|DAP3_ENST00000471642.2_Silent_p.S174S|DAP3_ENST00000535183.1_Silent_p.S174S|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Silent_p.S215S|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	215					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.S215S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGAGAGAAAGCACTGAGAAAG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	1											95	106	102					1																	155698874		2203	4300	6503	153965498	SO:0001819	synonymous_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.645C>T	1.37:g.155698874C>T			153965498	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	ENST00000368336.5	37	CCDS1120.1																																																																																				0.388	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		T	155698874	C	T	155698874	2	4	295	1	0	0	0	0	0	0	0	1	4234	709	25	2		2	DAP3	1	155698874	Silent	SNP	C	TCGA-25-1326-01A-01W-0492-08	249893	155698874	93551747	8	16160											
SLC25A44	9673	broad.mit.edu	37	1	156180069	156180069	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:156180069G>C	ENST00000359511.4	+	4	964	c.792G>C	c.(790-792)caG>caC	p.Q264H	PMF1-BGLAP_ENST00000490491.1_5'Flank|SLC25A44_ENST00000469537.1_3'UTR|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000368273.4_5'Flank|PMF1_ENST00000368279.3_5'Flank|PMF1_ENST00000368277.3_5'Flank|SLC25A44_ENST00000423538.2_Missense_Mutation_p.Q241H|PMF1-BGLAP_ENST00000368276.4_5'Flank|PMF1_ENST00000567140.1_5'Flank|PMF1_ENST00000565805.1_5'Flank	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	264					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Q264H(1)		breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CCTTCAGACAGCTGATGGCAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											167	157	161					1																	156180069		2203	4300	6503	154446693	SO:0001583	missense	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.792G>C	1.37:g.156180069G>C	ENSP00000352497:p.Gln264His		154446693	O75034	Missense_Mutation	SNP	ENST00000359511.4	37	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830331	0.32329	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	T;T	0.79554	-1.28;-1.28	4.8	2.83	0.33086	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.41124	1.26	0.58432	D	0.999994	B;B;B	0.19817	0.039;0.027;0.027	B;B;B	0.24155	0.01;0.051;0.051	T	0.49916	-0.8888	10	0.30854	T	0.27	-0.4055	11.9888	0.53163	0.1417:0.0:0.8583:0.0	.	241;241;264	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	H	264;241	ENSP00000352497:Q264H;ENSP00000407560:Q241H	ENSP00000352497:Q264H	Q	+	3	2	SLC25A44	154446693	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.170000	0.42443	0.200000	0.20447	-1.851000	0.00568	CAG		0.542	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		C	156180069	G	C	156180069	3	2	295	1	0	0	0	0	1	0	0	0	14512	962	34	3	802	3	SLC25A44	1	156180069	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	481195	156180069	93070552	9	16161											
LGR6	59352	broad.mit.edu	37	1	202283969	202283969	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:202283969A>G	ENST00000367278.3	+	17	1696	c.1607A>G	c.(1606-1608)gAc>gGc	p.D536G	LGR6_ENST00000255432.7_Missense_Mutation_p.D484G|LGR6_ENST00000439764.2_Missense_Mutation_p.D397G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	536					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.D536G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGATGGAGGACTCAAAGCCA	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											106	94	98					1																	202283969		2203	4300	6503	200550592	SO:0001583	missense	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1607A>G	1.37:g.202283969A>G	ENSP00000356247:p.Asp536Gly		200550592	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771123	0.49680	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	D;D;D	0.85955	-2.05;-2.05;-2.05	5.43	5.43	0.79202	.	0.165668	0.53938	D	0.000059	D	0.84343	0.5451	L	0.52266	1.64	0.52099	D	0.999947	P;B;B	0.39424	0.673;0.059;0.34	B;B;B	0.42653	0.248;0.098;0.394	D	0.85484	0.1181	10	0.56958	D	0.05	.	15.529	0.75936	1.0:0.0:0.0:0.0	.	397;484;536	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	G	536;484;397	ENSP00000356247:D536G;ENSP00000255432:D484G;ENSP00000387869:D397G	ENSP00000255432:D484G	D	+	2	0	LGR6	200550592	1.000000	0.71417	0.990000	0.47175	0.449000	0.32228	9.324000	0.96373	2.066000	0.61787	0.451000	0.29950	GAC		0.577	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		G	202283969	A	G	202283969	3	3	295	1	0	0	0	0	1	0	0	0	8758	275	10	4	1820	4	LGR6	1	202283969	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	46103900	202283969	46966652	10	16162											
LGTN	1939	broad.mit.edu	37	1	206772937	206772937	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:206772937G>T	ENST00000271764.2	-	10	1290	c.1082C>A	c.(1081-1083)tCc>tAc	p.S361Y	EIF2D_ENST00000472709.2_5'Flank|EIF2D_ENST00000367114.3_Missense_Mutation_p.S237Y	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	361					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)	p.S361Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGAGGTCGGGGAGGGCTCGGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											66	77	74					1																	206772937		2203	4300	6503	204839560	SO:0001583	missense	1939			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1082C>A	1.37:g.206772937G>T	ENSP00000271764:p.Ser361Tyr		204839560	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467237	0.63625	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.46063	0.88;1.45	5.48	5.48	0.80851	.	0.262894	0.41712	D	0.000827	T	0.47229	0.1434	L	0.53249	1.67	0.33971	D	0.646871	P;P	0.51537	0.946;0.676	P;B	0.49999	0.628;0.3	T	0.63532	-0.6616	10	0.62326	D	0.03	-11.3296	11.4044	0.49889	0.0835:0.0:0.9165:0.0	.	237;361	P41214-2;P41214	.;EIF2D_HUMAN	Y	237;361	ENSP00000356081:S237Y;ENSP00000271764:S361Y	ENSP00000271764:S361Y	S	-	2	0	EIF2D	204839560	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.689000	0.46993	2.549000	0.85964	0.655000	0.94253	TCC		0.522	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		T	206772937	G	T	206772937	3	4	295	1	0	0	0	0	1	0	0	0	8760	1174	41	3	696	3	LGTN	1	206772937	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	4488968	206772937	42477684	11	16163											
MARK1	4139	broad.mit.edu	37	1	220808804	220808804	+	Silent	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:220808804C>G	ENST00000366917.4	+	12	1475	c.1209C>G	c.(1207-1209)tcC>tcG	p.S403S	MARK1_ENST00000366918.4_Silent_p.S381S|MARK1_ENST00000402574.1_Silent_p.S268S					MAP/microtubule affinity-regulating kinase 1									p.S403S(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTCTTCAGTCCCCTGCTCACC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	1											84	78	80					1																	220808804		2203	4300	6503	218875427	SO:0001819	synonymous_variant	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1209C>G	1.37:g.220808804C>G			218875427		Silent	SNP	ENST00000366917.4	37	CCDS31029.2																																																																																				0.463	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			G	220808804	C	G	220808804	2	3	295	1	0	0	0	0	0	0	0	1	9312	610	22	3		3	MARK1	1	220808804	Silent	SNP	C	TCGA-25-1326-01A-01W-0492-08	14035867	220808804	28441817	12	16164											
GALNT2	2590	broad.mit.edu	37	1	230338902	230338902	+	Silent	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:230338902C>T	ENST00000366672.4	+	3	312	c.240C>T	c.(238-240)gaC>gaT	p.D80D	GALNT2_ENST00000541865.1_5'UTR|GALNT2_ENST00000543760.1_Silent_p.D42D	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	80					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D80D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTGGCCAGACTTTAACCAGG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	1											147	148	147					1																	230338902		2203	4300	6503	228405525	SO:0001819	synonymous_variant	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.240C>T	1.37:g.230338902C>T			228405525	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1																																																																																				0.512	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		T	230338902	C	T	230338902	2	4	295	1	0	0	0	0	0	0	0	1	6213	564	20	2		2	GALNT2	1	230338902	Silent	SNP	C	TCGA-25-1326-01A-01W-0492-08	9530098	230338902	18911719	13	16165											
SLC35F3	148641	broad.mit.edu	37	1	234452363	234452363	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr1:234452363C>A	ENST00000366617.3	+	4	865	c.637C>A	c.(637-639)Ctc>Atc	p.L213I	SLC35F3_ENST00000366618.3_Missense_Mutation_p.L282I			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	213					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.L282I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGCCGCCATCCTCGCCATCGC	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											278	273	275					1																	234452363		2203	4300	6503	232518986	SO:0001583	missense	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.637C>A	1.37:g.234452363C>A	ENSP00000355576:p.Leu213Ile		232518986	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37		.	.	.	.	.	.	.	.	.	.	C	17.38	3.374162	0.61735	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.30714	1.52;1.52	5.73	4.81	0.61882	Drug/metabolite transporter (1);	0.131978	0.56097	D	0.000026	T	0.31606	0.0802	L	0.56769	1.78	0.52501	D	0.999957	P;P	0.43392	0.805;0.649	P;B	0.45753	0.492;0.359	T	0.01879	-1.1255	10	0.20046	T	0.44	-25.4074	8.3229	0.32140	0.0:0.7856:0.0:0.2144	.	213;282	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	I	282;213	ENSP00000355577:L282I;ENSP00000355576:L213I	ENSP00000355576:L213I	L	+	1	0	SLC35F3	232518986	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	1.188000	0.32102	2.695000	0.91970	0.655000	0.94253	CTC		0.577	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		A	234452363	C	A	234452363	3	1	295	1	0	0	0	0	1	0	0	0	14593	681	24	3	862	3	SLC35F3	1	234452363	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	4113461	234452363	14798258	14	16166											
TPO	7173	broad.mit.edu	37	2	1418211	1418211	+	Missense_Mutation	SNP	C	C	G	rs140794688		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:1418211C>G	ENST00000345913.4	+	2	122	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	TPO_ENST00000382269.3_Missense_Mutation_p.L11V|TPO_ENST00000329066.4_Missense_Mutation_p.L11V|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.L11V|TPO_ENST00000337415.3_Missense_Mutation_p.L11V|TPO_ENST00000382198.1_Missense_Mutation_p.L11V|TPO_ENST00000539820.1_Missense_Mutation_p.L11V|TPO_ENST00000349624.3_Missense_Mutation_p.L11V|TPO_ENST00000382201.3_Missense_Mutation_p.L11V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	11					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.L11V(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTCTGTCACGCTGGTTATGGC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											88	81	83					2																	1418211		2203	4300	6503	1397218	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.31C>G	2.37:g.1418211C>G	ENSP00000318820:p.Leu11Val		1397218	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.751118	0.31046	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.68624	0.1;-0.32;-0.34;-0.25;-0.03;0.1;-0.34;-0.21;0.17;-0.03	5.39	2.1	0.27182	.	1.071720	0.07287	N	0.871802	T	0.63850	0.2546	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P	0.51537	0.946;0.872;0.946;0.946;0.91	P;B;P;P;B	0.45639	0.488;0.392;0.488;0.488;0.294	T	0.51694	-0.8673	10	0.37606	T	0.19	-14.4496	5.6919	0.17835	0.4064:0.4996:0.0:0.0939	.	11;11;11;11;11	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	V	11	ENSP00000371704:L11V;ENSP00000337263:L11V;ENSP00000318820:L11V;ENSP00000263886:L11V;ENSP00000332044:L11V;ENSP00000444840:L11V;ENSP00000329869:L11V;ENSP00000371636:L11V;ENSP00000390994:L11V;ENSP00000371633:L11V	ENSP00000329869:L11V	L	+	1	2	TPO	1397218	0.010000	0.17322	0.017000	0.16124	0.004000	0.04260	0.433000	0.21477	0.745000	0.32763	0.655000	0.94253	CTG		0.498	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		G	1418211	C	G	1418211	3	3	295	1	0	0	0	0	1	0	0	0	16410	796	28	3	33	3	TPO	2	1418211	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		1418211	241781162	15	16167											
SLC5A7	60482	broad.mit.edu	37	2	108626706	108626706	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:108626706G>A	ENST00000264047.2	+	9	1408	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.V378I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V273I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	378					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.V378I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAAGAAATCGTTTGGGTTAT	0.443																																																2	Substitution - Missense(2)	ovary(1)|pancreas(1)	2											148	120	129					2																	108626706		2203	4300	6503	107993138	SO:0001583	missense	60482			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1132G>A	2.37:g.108626706G>A	ENSP00000264047:p.Val378Ile		107993138	Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953064	0.18431	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.89050	-2.46;-2.46;-2.46	5.85	2.92	0.33932	.	0.168277	0.51477	N	0.000083	T	0.79724	0.4495	N	0.25647	0.755	0.49915	D	0.999832	B	0.06786	0.001	B	0.10450	0.005	T	0.70360	-0.4893	10	0.31617	T	0.26	-25.0208	8.2684	0.31829	0.1388:0.0:0.7353:0.1259	.	378	Q9GZV3	SC5A7_HUMAN	I	378;273;378	ENSP00000387346:V378I;ENSP00000445351:V273I;ENSP00000264047:V378I	ENSP00000264047:V378I	V	+	1	0	SLC5A7	107993138	1.000000	0.71417	0.256000	0.24389	0.798000	0.45092	4.104000	0.57790	0.773000	0.33404	-0.143000	0.13931	GTT		0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			A	108626706	G	A	108626706	3	1	295	1	0	0	0	0	1	0	0	0	14673	1145	40	1	1162	1	SLC5A7	2	108626706	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	107208495	108626706	134572667	16	16168											
YSK4	80122	broad.mit.edu	37	2	135738768	135738768	+	Nonsense_Mutation	SNP	A	A	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:135738768A>T	ENST00000375845.3	-	9	3573	c.3543T>A	c.(3541-3543)tgT>tgA	p.C1181*	MAP3K19_ENST00000392917.3_Nonsense_Mutation_p.C313*|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.C1068*|MAP3K19_ENST00000392918.3_Nonsense_Mutation_p.C315*|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Nonsense_Mutation_p.C42*|MAP3K19_ENST00000375844.3_Nonsense_Mutation_p.C363*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C1181*(1)|p.C533*(1)									GATGTACCACACAGTTCTCAT	0.418																																																2	Substitution - Nonsense(2)	ovary(2)	2											145	142	143					2																	135738768		2203	4300	6503	135455238	SO:0001587	stop_gained	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3543T>A	2.37:g.135738768A>T	ENSP00000365005:p.Cys1181*		135455238	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445499	0.84101	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	.	.	.	5.88	1.02	0.19986	.	0.000000	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	5.4219	0.16405	0.5741:0.1383:0.2877:0.0	.	.	.	.	X	1181;1068;363;315;313;571;42	.	ENSP00000321160:C42X	C	-	3	2	YSK4	135455238	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	0.585000	0.23879	0.154000	0.19237	-0.254000	0.11334	TGT		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		T	135738768	A	T	135738768	4	4	295	1	0	0	0	0	0	1	0	0	17495	157	6	5	451	5	YSK4	2	135738768	Nonsense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	27112062	135738768	107460605	17	16169											
NEB	4703	broad.mit.edu	37	2	152499124	152499124	+	Silent	SNP	G	G	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:152499124G>T	ENST00000172853.10	-	60	8484	c.8337C>A	c.(8335-8337)atC>atA	p.I2779I	NEB_ENST00000427231.2_Silent_p.I2779I|NEB_ENST00000604864.1_Silent_p.I2779I|NEB_ENST00000603639.1_Silent_p.I2779I|NEB_ENST00000409198.1_Silent_p.I2779I|NEB_ENST00000397345.3_Silent_p.I2779I			P20929	NEBU_HUMAN	nebulin	2779					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.I2779I(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCTGCCTTGATAGGAATGG	0.393																																																1	Substitution - coding silent(1)	ovary(1)	2											81	79	80					2																	152499124		1890	4112	6002	152207370	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8337C>A	2.37:g.152499124G>T			152207370	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.393	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152499124	G	T	152499124	2	4	295	1	0	0	0	0	0	0	0	1	10302	1280	45	3		3	NEB	2	152499124	Silent	SNP	G	TCGA-25-1326-01A-01W-0492-08	16760356	152499124	90700249	18	16170											
TTN	7273	broad.mit.edu	37	2	179429242	179429242	+	Missense_Mutation	SNP	A	A	G	rs369868913		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:179429242A>G	ENST00000591111.1	-	276	76918	c.76694T>C	c.(76693-76695)aTt>aCt	p.I25565T	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I18266T|TTN_ENST00000460472.2_Missense_Mutation_p.I18141T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I18333T|TTN_ENST00000342992.6_Missense_Mutation_p.I24638T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I27206T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25565	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I18141T(1)|p.I24636T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCTACAATATAACCTGT	0.413																																																2	Substitution - Missense(2)	ovary(2)	2						A	THR/ILE,THR/ILE,THR/ILE,THR/ILE	0,3744		0,0,1872	77	71	73		54998,54797,73913,54422	5	0	2		73	1,8229		0,1,4114	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	89,89,89,89	0,1,5986	GG,GA,AA		0.0122,0.0,0.0084	benign,benign,benign,benign	18333/27119,18266/27052,24638/33424,18141/26927	179429242	1,11973	1872	4115	5987	179137488	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76694T>C	2.37:g.179429242A>G	ENSP00000465570:p.Ile25565Thr		179137488	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	7.313	0.615344	0.14129	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	6.16	5.01	0.66863	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46560	0.1399	L	0.42686	1.345	0.37270	D	0.907353	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.12156	0.003;0.003;0.007;0.007	T	0.49322	-0.8952	9	0.87932	D	0	.	12.5328	0.56126	0.9353:0.0:0.0647:0.0	.	18141;18266;18333;25565	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	24638;18141;18333;18266;18139	ENSP00000343764:I24638T;ENSP00000434586:I18141T;ENSP00000340554:I18333T;ENSP00000352154:I18266T	ENSP00000340554:I18333T	I	-	2	0	TTN	179137488	1.000000	0.71417	0.015000	0.15790	0.555000	0.35460	6.309000	0.72825	1.143000	0.42306	0.528000	0.53228	ATT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179429242	A	G	179429242	3	3	295	1	0	0	0	0	1	0	0	0	16735	101	4	4	26510	4	TTN	2	179429242	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	26930118	179429242	63770131	19	16171											
NCKAP1	10787	broad.mit.edu	37	2	183790515	183790515	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:183790515T>C	ENST00000361354.4	-	31	3674	c.3302A>G	c.(3301-3303)gAt>gGt	p.D1101G	NCKAP1_ENST00000360982.2_Missense_Mutation_p.D1107G|NCKAP1_ENST00000478449.1_5'Flank	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1101					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.D1107G(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCCAAAAGATCCATTGTAAG	0.284																																																1	Substitution - Missense(1)	ovary(1)	2											101	98	99					2																	183790515		2203	4299	6502	183498760	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3302A>G	2.37:g.183790515T>C	ENSP00000355348:p.Asp1101Gly		183498760	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.104547	0.77096	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.38240	1.15;1.15	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.71337	-0.4623	10	0.72032	D	0.01	-17.3627	15.7957	0.78409	0.0:0.0:0.0:1.0	.	1101;1107	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	G	1101;1107	ENSP00000355348:D1101G;ENSP00000354251:D1107G	ENSP00000354251:D1107G	D	-	2	0	NCKAP1	183498760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	2.127000	0.65507	0.528000	0.53228	GAT		0.284	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		C	183790515	T	C	183790515	3	2	295	1	0	0	0	0	1	0	0	0	10221	1435	50	4	88	4	NCKAP1	2	183790515	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	4361273	183790515	59408858	20	16172											
HECW2	57520	broad.mit.edu	37	2	197184519	197184519	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:197184519C>G	ENST00000260983.3	-	9	1277	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H	HECW2_ENST00000409111.1_Missense_Mutation_p.Q9H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	365					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q365H(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TAGAGCACACCTGGCTGTCGT	0.517																																																1	Substitution - Missense(1)	ovary(1)	2											100	87	91					2																	197184519		2203	4300	6503	196892764	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1095G>C	2.37:g.197184519C>G	ENSP00000260983:p.Gln365His		196892764	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	0.830	-0.745586	0.03065	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.30448	1.53;1.53	5.43	-10.9	0.00192	.	1.428700	0.04438	N	0.370451	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.46703	T	0.11	.	0.8874	0.01247	0.276:0.132:0.1998:0.3922	.	365	Q9P2P5	HECW2_HUMAN	H	9;365	ENSP00000386775:Q9H;ENSP00000260983:Q365H	ENSP00000260983:Q365H	Q	-	3	2	HECW2	196892764	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.392000	0.02523	-3.876000	0.00096	-0.140000	0.14226	CAG		0.517	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		G	197184519	C	G	197184519	3	3	295	1	0	0	0	0	1	0	0	0	7043	680	24	3	3707	3	HECW2	2	197184519	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	13394004	197184519	46014854	21	16173											
ACCN4	55515	broad.mit.edu	37	2	220402768	220402768	+	Nonstop_Mutation	SNP	G	G	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:220402768G>T	ENST00000347842.3	+	9	1958	c.1944G>T	c.(1942-1944)taG>taT	p.*648Y	ASIC4_ENST00000358078.4_Nonstop_Mutation_p.*667Y	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	0					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.*667Y(1)									TTGCTTGCTAGGACGGTGCTG	0.647																																																1	Nonstop extension(1)	ovary(1)	2											39	36	37					2																	220402768		2201	4300	6501	220111012	SO:0001578	stop_lost	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1944G>T	2.37:g.220402768G>T	ENSP00000326627:p.*648Tyrext*108		220111012	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Nonstop_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610971	0.28712	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	.	.	.	4.31	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4296	0.50032	0.0879:0.0:0.9121:0.0	.	.	.	.	Y	648;667	.	.	X	+	3	2	ACCN4	220111012	1.000000	0.71417	0.994000	0.49952	0.811000	0.45836	2.776000	0.47709	1.168000	0.42723	0.655000	0.94253	TAG		0.647	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		T	220402768	G	T	220402768	4	4	295	1	0	0	0	0	0	0	0	0	131	995	35	3	2039	3	ACCN4	2	220402768	Nonstop_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	23218249	220402768	22796605	22	16174											
CAPN10	11132	broad.mit.edu	37	2	241528815	241528815	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:241528815A>C	ENST00000391984.2	+	2	393	c.197A>C	c.(196-198)aAg>aCg	p.K66T	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.K66T|CAPN10-AS1_ENST00000567819.1_RNA|CAPN10_ENST00000404753.3_Missense_Mutation_p.K66T|CAPN10_ENST00000270364.7_Missense_Mutation_p.K66T|CAPN10_ENST00000391982.2_Missense_Mutation_p.K66T	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	66	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.K66T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGCAGGTGAAGCAGGGGCTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											85	95	91					2																	241528815		2203	4300	6503	241177488	SO:0001583	missense	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.197A>C	2.37:g.241528815A>C	ENSP00000375844:p.Lys66Thr		241177488	A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.344471	0.41498	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000270364;ENST00000354082	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	4.54	3.38	0.38709	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.90628	0.7061	M	0.65677	2.01	0.48632	D	0.999689	D;D;D;D	0.76494	0.999;0.999;0.997;0.963	D;D;D;P	0.71414	0.957;0.973;0.933;0.906	D	0.88682	0.3203	10	0.52906	T	0.07	.	8.1279	0.31010	0.9008:0.0:0.0992:0.0	.	66;66;66;66	B7Z6G3;Q9HC96-7;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	T	66	ENSP00000375844:K66T;ENSP00000375842:K66T;ENSP00000384422:K66T;ENSP00000270364:K66T;ENSP00000270362:K66T	ENSP00000270361:K66T	K	+	2	0	CAPN10	241177488	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.714000	0.74692	0.604000	0.29930	0.533000	0.62120	AAG		0.607	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		C	241528815	A	C	241528815	3	2	295	1	0	0	0	0	1	0	0	0	2623	72	3	5	203	5	CAPN10	2	241528815	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	21126047	241528815	1670558	23	16175											
FARP2	9855	broad.mit.edu	37	2	242402804	242402804	+	Silent	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr2:242402804C>T	ENST00000264042.3	+	16	1902	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L	FARP2_ENST00000373287.4_Silent_p.L578L|FARP2_ENST00000545004.1_Silent_p.L578L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	578	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L578L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TCTGATGACGCTGCTCTTCTC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	2											140	112	121					2																	242402804		2203	4300	6503	242051477	SO:0001819	synonymous_variant	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1732C>T	2.37:g.242402804C>T			242051477	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	CCDS33424.1																																																																																				0.597	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			T	242402804	C	T	242402804	2	4	295	1	0	0	0	0	0	0	0	1	5677	796	28	2		2	FARP2	2	242402804	Silent	SNP	C	TCGA-25-1326-01A-01W-0492-08	873989	242402804	796569	24	16176											
C3orf45	132228	broad.mit.edu	37	3	50324588	50324588	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr3:50324588C>G	ENST00000316436.3	+	4	537	c.450C>G	c.(448-450)agC>agG	p.S150R	IFRD2_ENST00000484043.1_5'Flank	NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	150						integral component of membrane (GO:0016021)		p.S150R(1)									CCAGCCTCAGCCAGCTTCGGA	0.602																																																1	Substitution - Missense(1)	ovary(1)	3											56	52	54					3																	50324588		2203	4300	6503	50299592	SO:0001583	missense	132228			AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 45"	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.450C>G	3.37:g.50324588C>G	ENSP00000315081:p.Ser150Arg		50299592		Missense_Mutation	SNP	ENST00000316436.3	37	CCDS2814.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604007	0.66445	.	.	ENSG00000179564	ENST00000316436	.	.	.	4.72	3.84	0.44239	.	0.212129	0.34531	N	0.003884	T	0.30262	0.0759	N	0.14661	0.345	0.27136	N	0.961768	D	0.57571	0.98	P	0.52957	0.714	T	0.07347	-1.0777	9	0.66056	D	0.02	1.6057	8.5605	0.33507	0.0:0.8954:0.0:0.1046	.	150	Q8N112	CC045_HUMAN	R	150	.	ENSP00000315081:S150R	S	+	3	2	C3orf45	50299592	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	0.404000	0.20999	1.214000	0.43395	0.561000	0.74099	AGC		0.602	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		G	50324588	C	G	50324588	3	3	295	1	0	0	0	0	1	0	0	0	2231	738	26	3	464	3	C3orf45	3	50324588	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		50324588	147697842	25	16177											
C3orf64	285203	broad.mit.edu	37	3	69057654	69057654	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr3:69057654C>T	ENST00000383701.3	-	5	978	c.236G>A	c.(235-237)tGc>tAc	p.C79Y	EOGT_ENST00000540764.1_5'UTR|EOGT_ENST00000295571.5_Missense_Mutation_p.C79Y|EOGT_ENST00000540955.1_5'UTR	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	79					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)	p.C79Y(1)									ATAACCCCAGCAGTACTTTAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	3											144	138	140					3																	69057654		2203	4300	6503	69140344	SO:0001583	missense	285203			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.236G>A	3.37:g.69057654C>T	ENSP00000373206:p.Cys79Tyr		69140344	A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37		.	.	.	.	.	.	.	.	.	.	C	18.72	3.683557	0.68157	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000424374;ENST00000456376	.	.	.	5.45	4.58	0.56647	.	0.137872	0.64402	D	0.000002	T	0.79215	0.4408	M	0.84082	2.675	0.80722	D	1	D;B	0.89917	1.0;0.208	D;B	0.72075	0.976;0.077	T	0.82489	-0.0432	9	0.87932	D	0	.	12.8685	0.57953	0.0:0.9245:0.0:0.0755	.	79;79	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	Y	79	.	ENSP00000295571:C79Y	C	-	2	0	C3orf64	69140344	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.465000	0.73538	1.442000	0.47568	0.563000	0.77884	TGC		0.388	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		T	69057654	C	T	69057654	3	4	295	1	0	0	0	0	1	0	0	0	2240	710	25	2	1139	2	C3orf64	3	69057654	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	18733066	69057654	128964776	26	16178											
GPR27	2850	broad.mit.edu	37	3	71804076	71804076	+	Silent	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr3:71804076C>T	ENST00000304411.2	+	1	876	c.876C>T	c.(874-876)ctC>ctT	p.L292L	EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	292					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L292L(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TCACGCTGCTCTTCCTGCTCC	0.711																																																1	Substitution - coding silent(1)	ovary(1)	3											34	43	40					3																	71804076		2199	4300	6499	71886766	SO:0001819	synonymous_variant	2850			AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"GPCR / Class A : Orphans"	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.876C>T	3.37:g.71804076C>T			71886766		Silent	SNP	ENST00000304411.2	37	CCDS2915.1																																																																																				0.711	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		T	71804076	C	T	71804076	2	4	295	1	0	0	0	0	0	0	0	1	6685	900	32	2		2	GPR27	3	71804076	Silent	SNP	C	TCGA-25-1326-01A-01W-0492-08	2746422	71804076	126218354	27	16179											
CLDND1	56650	broad.mit.edu	37	3	98235671	98235671	+	Silent	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr3:98235671G>C	ENST00000503004.1	-	5	1473	c.594C>G	c.(592-594)ctC>ctG	p.L198L	CLDND1_ENST00000394180.2_Silent_p.L198L|CLDND1_ENST00000341181.6_Silent_p.L198L|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000510545.1_Silent_p.L198L|CLDND1_ENST00000437922.1_Silent_p.L221L|CLDND1_ENST00000513287.1_Silent_p.L198L|CLDND1_ENST00000394181.2_Silent_p.L198L|CLDND1_ENST00000511081.1_Silent_p.L103L|CLDND1_ENST00000394185.2_Silent_p.L198L			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	198						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L198L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						GTTTCTGGTGGAGTAGTTCAA	0.453																																																1	Substitution - coding silent(1)	ovary(1)	3											132	115	120					3																	98235671		2203	4300	6503	99718361	SO:0001819	synonymous_variant	56650			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 4"	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.594C>G	3.37:g.98235671G>C			99718361	B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Silent	SNP	ENST00000503004.1	37	CCDS2930.1																																																																																				0.453	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		C	98235671	G	C	98235671	2	2	295	1	0	0	0	0	0	0	0	1	3493	1161	41	3		3	CLDND1	3	98235671	Silent	SNP	G	TCGA-25-1326-01A-01W-0492-08	26431595	98235671	99786759	28	16180											
FAM194A	131831	broad.mit.edu	37	3	150377801	150377801	+	Nonsense_Mutation	SNP	T	T	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr3:150377801T>A	ENST00000295910.6	-	14	1922	c.1870A>T	c.(1870-1872)Aaa>Taa	p.K624*	FAM194A_ENST00000491361.1_Nonsense_Mutation_p.K478*	NM_152394.3	NP_689607.2												p.K624*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGCTTTAATTTTTCCCAAACC	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	3											103	109	107					3																	150377801		2203	4300	6503	151860491	SO:0001587	stop_gained	131831																														ENST00000295910.6:c.1870A>T	3.37:g.150377801T>A	ENSP00000295910:p.Lys624*		151860491		Nonsense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	37	6.289080	0.97444	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	.	.	.	5.22	5.22	0.72569	.	0.264721	0.32533	N	0.005965	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8008	14.431	0.67251	0.0:0.0:0.0:1.0	.	.	.	.	X	624;478;582	.	ENSP00000295910:K624X	K	-	1	0	FAM194A	151860491	0.997000	0.39634	0.016000	0.15963	0.978000	0.69477	5.007000	0.63984	2.108000	0.64289	0.529000	0.55759	AAA		0.378	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			A	150377801	T	A	150377801	4	1	295	1	0	0	0	0	0	1	0	0	5526	1850	64	5	125	5	FAM194A	3	150377801	Nonsense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	52142130	150377801	47644629	29	16181											
SPATA16	83893	broad.mit.edu	37	3	172766803	172766803	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr3:172766803T>C	ENST00000351008.3	-	3	877	c.694A>G	c.(694-696)Aca>Gca	p.T232A		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	232					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.T232A(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACAAGCTTTGTCTCAATGAAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											125	110	115					3																	172766803		2203	4300	6503	174249497	SO:0001583	missense	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.694A>G	3.37:g.172766803T>C	ENSP00000341765:p.Thr232Ala		174249497	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541344	0.65085	.	.	ENSG00000144962	ENST00000351008	T	0.21031	2.03	5.07	3.9	0.45041	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000032	T	0.15825	0.0381	L	0.29908	0.895	0.31194	N	0.700549	B	0.19935	0.04	B	0.19666	0.026	T	0.08207	-1.0733	10	0.87932	D	0	-9.8041	9.5027	0.39028	0.0:0.0824:0.0:0.9176	.	232	Q9BXB7	SPT16_HUMAN	A	232	ENSP00000341765:T232A	ENSP00000341765:T232A	T	-	1	0	SPATA16	174249497	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.333000	0.43912	0.876000	0.35872	0.533000	0.62120	ACA		0.398	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		C	172766803	T	C	172766803	3	2	295	1	0	0	0	0	1	0	0	0	15003	1667	58	4	1051	4	SPATA16	3	172766803	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	22389002	172766803	25255627	30	16182											
KNG1	3827	broad.mit.edu	37	3	186459434	186459434	+	Missense_Mutation	SNP	C	C	T	rs199853757		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr3:186459434C>T	ENST00000265023.4	+	10	1461	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	417					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AGATGAAGAGCGGGATTCAGG	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		22324	0		0	False		,,,				2504	0															0			3						C	,TRP/ARG,	2,4402	4.2+/-10.8	0,2,2200	88	91	90		,1249,	2	0	3		90	0,8598		0,0,4299	yes	intron,missense,intron	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	,101,	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	,benign,	,417/645,	186459434	2,13000	2202	4299	6501	187942128	SO:0001583	missense	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1249C>T	3.37:g.186459434C>T	ENSP00000265023:p.Arg417Trp		187942128	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	6.629	0.484417	0.12641	4.54E-4	0.0	ENSG00000113889	ENST00000265023	T	0.15718	2.4	5.85	1.98	0.26296	.	1.785970	0.02663	N	0.107721	T	0.12390	0.0301	N	0.21448	0.665	0.18873	N	0.999981	B	0.11235	0.004	B	0.06405	0.002	T	0.25537	-1.0129	9	.	.	.	1.2309	5.1007	0.14759	0.2998:0.544:0.0:0.1561	.	417	P01042	KNG1_HUMAN	W	417	ENSP00000265023:R417W	.	R	+	1	2	KNG1	187942128	0.089000	0.21612	0.045000	0.18777	0.006000	0.05464	0.389000	0.20751	0.150000	0.19136	0.655000	0.94253	CGG		0.438	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		T	186459434	C	T	186459434	3	4	295	1	0	0	0	0	1	0	0	0	8427	759	27	1	1287	1	KNG1	3	186459434	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	13692631	186459434	11562996	31	16183											
DLG1	1739	broad.mit.edu	37	3	196842949	196842949	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr3:196842949G>C	ENST00000419354.1	-	14	1677	c.1391C>G	c.(1390-1392)cCt>cGt	p.P464R	DLG1_ENST00000448528.2_Missense_Mutation_p.P464R|DLG1_ENST00000422288.1_Missense_Mutation_p.P413R|DLG1_ENST00000392382.2_Missense_Mutation_p.P431R|DLG1_ENST00000450955.1_Missense_Mutation_p.P431R|DLG1_ENST00000357674.4_Missense_Mutation_p.P431R|DLG1_ENST00000443183.1_Missense_Mutation_p.P348R|DLG1_ENST00000346964.2_Missense_Mutation_p.P464R|DLG1_ENST00000452595.1_Missense_Mutation_p.P348R|DLG1_ENST00000314062.3_Missense_Mutation_p.P413R			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	464					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.P464R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		AACTTTTCTAGGTTCCCTAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	3											67	72	71					3																	196842949		2202	4300	6502	198327346	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1391C>G	3.37:g.196842949G>C	ENSP00000407531:p.Pro464Arg		198327346	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676378	0.88445	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;2.18	5.62	5.62	0.85841	PDZ/DHR/GLGF (1);PDZ-associated domain of NMDA receptors (1);	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.99;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.929;0.99;0.991;1.0;0.996;0.995;0.996	T	0.77289	-0.2643	10	0.87932	D	0	.	18.6485	0.91421	0.0:0.0:1.0:0.0	.	431;348;348;348;431;464;464	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	R	464;464;431;464;413;464;348;413;464;348;431;431;273	ENSP00000345731:P464R;ENSP00000350303:P431R;ENSP00000321087:P413R;ENSP00000407531:P464R;ENSP00000398939:P348R;ENSP00000413238:P413R;ENSP00000391732:P464R;ENSP00000396658:P348R;ENSP00000376187:P431R;ENSP00000411278:P431R;ENSP00000398702:P273R	ENSP00000321087:P413R	P	-	2	0	DLG1	198327346	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.378000	0.97191	2.662000	0.90505	0.591000	0.81541	CCT		0.333	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		C	196842949	G	C	196842949	3	2	295	1	0	0	0	0	1	0	0	0	4554	1000	35	3	1479	3	DLG1	3	196842949	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	10383515	196842949	1179481	32	16184											
CD38	952	broad.mit.edu	37	4	15818256	15818256	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr4:15818256G>C	ENST00000226279.3	+	2	493	c.356G>C	c.(355-357)tGc>tCc	p.C119S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	119					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.C119S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						ACCGTACCTTGCAACAAGGTA	0.388																																																1	Substitution - Missense(1)	ovary(1)	4											104	97	100					4																	15818256		2203	4300	6503	15427354	SO:0001583	missense	952			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.356G>C	4.37:g.15818256G>C	ENSP00000226279:p.Cys119Ser		15427354	O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060859	0.19987	.	.	ENSG00000004468	ENST00000226279;ENST00000540195;ENST00000510674	T;T	0.46063	0.88;0.88	5.57	5.57	0.84162	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62964	-0.6742	10	0.05959	T	0.93	-26.0496	16.4727	0.84115	0.0:0.0:1.0:0.0	.	119;119	P28907;B2R880	CD38_HUMAN;.	S	119;119;13	ENSP00000226279:C119S;ENSP00000423047:C13S	ENSP00000226279:C119S	C	+	2	0	CD38	15427354	0.990000	0.36364	0.796000	0.32109	0.144000	0.21451	5.376000	0.66178	2.624000	0.88883	0.563000	0.77884	TGC		0.388	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		C	15818256	G	C	15818256	3	2	295	1	0	0	0	0	1	0	0	0	3009	1319	46	3	362	3	CD38	4	15818256	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08		15818256	175336020	33	16185											
DCUN1D4	23142	broad.mit.edu	37	4	52740446	52740446	+	Missense_Mutation	SNP	G	G	C	rs142966675		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr4:52740446G>C	ENST00000334635.5	+	4	326	c.146G>C	c.(145-147)cGg>cCg	p.R49P	DCUN1D4_ENST00000381437.4_5'UTR|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.R49P|DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.R93P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	49						nucleus (GO:0005634)		p.R49P(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GGAAGTCTGCGGTCTTGCAGT	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											125	122	123					4																	52740446		2203	4300	6503	52435203	SO:0001583	missense	23142			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.146G>C	4.37:g.52740446G>C	ENSP00000334625:p.Arg49Pro		52435203	B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	g	18.67	3.673407	0.67928	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000505403;ENST00000451288	.	.	.	5.18	4.34	0.51931	.	0.394763	0.26971	N	0.021575	T	0.48077	0.1480	N	0.22421	0.69	0.80722	D	1	P;P;P	0.48089	0.876;0.901;0.905	B;P;B	0.50970	0.423;0.655;0.32	T	0.49978	-0.8881	9	0.59425	D	0.04	-8.7843	11.2283	0.48897	0.0843:0.0:0.9157:0.0	.	93;49;49	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	P	49;49;93;93	.	ENSP00000334625:R49P	R	+	2	0	DCUN1D4	52435203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.188000	0.77739	1.194000	0.43101	0.651000	0.88453	CGG		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		C	52740446	G	C	52740446	3	2	295	1	0	0	0	0	1	0	0	0	4316	1116	39	3	160	3	DCUN1D4	4	52740446	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	36922190	52740446	138413830	34	16186											
DDX4	54514	broad.mit.edu	37	5	55034823	55034823	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr5:55034823A>C	ENST00000505374.1	+	2	124	c.32A>C	c.(31-33)aAc>aCc	p.N11T	DDX4_ENST00000354991.5_Missense_Mutation_p.N11T|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.N11T|DDX4_ENST00000514278.2_Missense_Mutation_p.N11T|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	11					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.N11T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCAGAAATCAACCCTCATATG	0.313																																																1	Substitution - Missense(1)	ovary(1)	5											122	129	127					5																	55034823		2203	4300	6503	55070580	SO:0001583	missense	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.32A>C	5.37:g.55034823A>C	ENSP00000424838:p.Asn11Thr		55070580	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	4.383	0.070737	0.08436	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991	T;T;T;T;T;T;T	0.44482	2.01;2.01;2.04;3.51;0.92;0.93;2.01	4.25	1.76	0.24704	.	0.801478	0.11186	N	0.590402	T	0.19967	0.0480	N	0.12182	0.205	0.22017	N	0.999414	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.28073	-1.0055	10	0.14252	T	0.57	-6.8734	4.4352	0.11547	0.6942:0.1998:0.106:0.0	.	11;11;11	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	T	11	ENSP00000334167:N11T;ENSP00000425359:N11T;ENSP00000424838:N11T;ENSP00000427167:N11T;ENSP00000424779:N11T;ENSP00000424112:N11T;ENSP00000347087:N11T	ENSP00000334167:N11T	N	+	2	0	DDX4	55070580	0.996000	0.38824	0.801000	0.32222	0.849000	0.48306	1.487000	0.35540	0.263000	0.21812	0.402000	0.26972	AAC		0.313	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		C	55034823	A	C	55034823	3	2	295	1	0	0	0	0	1	0	0	0	4360	43	2	5	34	5	DDX4	5	55034823	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08		55034823	125880437	35	16187											
KCNMB1	3779	broad.mit.edu	37	5	169812362	169812362	+	Silent	SNP	G	G	C	rs112318935		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr5:169812362G>C	ENST00000274629.4	-	2	532	c.90C>G	c.(88-90)acC>acG	p.T30T	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Silent_p.T30T	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	30					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.T30T(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	GGATGTAGTAGGTGATGACGG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	5											161	132	142					5																	169812362		2203	4300	6503	169744940	SO:0001819	synonymous_variant	3779			AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"Potassium channels"	6285	protein-coding gene	gene with protein product	"BK channel beta subunit"	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.90C>G	5.37:g.169812362G>C			169744940	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Silent	SNP	ENST00000274629.4	37	CCDS4373.1																																																																																				0.592	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			C	169812362	G	C	169812362	2	2	295	1	0	0	0	0	0	0	0	1	8074	987	35	3		3	KCNMB1	5	169812362	Silent	SNP	G	TCGA-25-1326-01A-01W-0492-08	114777539	169812362	11102898	36	16188											
JARID2	3720	broad.mit.edu	37	6	15512443	15512443	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:15512443C>A	ENST00000341776.2	+	14	3201	c.2957C>A	c.(2956-2958)tCc>tAc	p.S986Y	JARID2_ENST00000397311.3_Missense_Mutation_p.S814Y	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	986	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S986Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCCCAGATCTCCCCGGAGGTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											83	69	74					6																	15512443		2203	4300	6503	15620422	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2957C>A	6.37:g.15512443C>A	ENSP00000341280:p.Ser986Tyr		15620422	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793200	0.90453	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	T;T	0.68765	-0.35;-0.35	5.01	5.01	0.66863	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	M	0.89353	3.025	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.85778	0.1359	10	0.72032	D	0.01	-11.7206	18.679	0.91540	0.0:1.0:0.0:0.0	.	986	Q92833	JARD2_HUMAN	Y	986;814	ENSP00000341280:S986Y;ENSP00000380478:S814Y	ENSP00000341280:S986Y	S	+	2	0	JARID2	15620422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.472000	0.83506	0.603000	0.83216	TCC		0.617	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		A	15512443	C	A	15512443	3	1	295	1	0	0	0	0	1	0	0	0	7945	855	30	3	3011	3	JARID2	6	15512443	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		15512443	155602624	37	16189											
HIST1H1A	3024	broad.mit.edu	37	6	26017456	26017456	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:26017456G>C	ENST00000244573.3	-	1	584	c.505C>G	c.(505-507)Cca>Gca	p.P169A		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	169					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.P169A(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						GGTTTTTTTGGATTCTTGGAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	6											172	184	180					6																	26017456		2203	4300	6503	26125435	SO:0001583	missense	3024			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.505C>G	6.37:g.26017456G>C	ENSP00000244573:p.Pro169Ala		26125435	Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.698871	0.00725	.	.	ENSG00000124610	ENST00000244573	T	0.44881	0.91	4.31	3.44	0.39384	.	0.125811	0.53938	D	0.000042	T	0.09024	0.0223	N	0.20445	0.575	0.52501	D	0.999955	P	0.52316	0.952	B	0.38842	0.283	T	0.05370	-1.0889	10	0.09590	T	0.72	-11.0625	7.9061	0.29763	0.0885:0.1619:0.7496:0.0	.	169	Q02539	H11_HUMAN	A	169	ENSP00000244573:P169A	ENSP00000244573:P169A	P	-	1	0	HIST1H1A	26125435	1.000000	0.71417	0.038000	0.18304	0.009000	0.06853	5.315000	0.65810	1.110000	0.41699	0.609000	0.83330	CCA		0.473	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		C	26017456	G	C	26017456	3	2	295	1	0	0	0	0	1	0	0	0	7122	1174	41	3	146	3	HIST1H1A	6	26017456	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	10505013	26017456	145097611	38	16190											
UHRF1BP1	54887	broad.mit.edu	37	6	34826116	34826116	+	Silent	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:34826116G>C	ENST00000192788.5	+	14	2154	c.1983G>C	c.(1981-1983)ctG>ctC	p.L661L	UHRF1BP1_ENST00000452449.2_Silent_p.L661L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	661							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L661L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTAGCCTTCTGCACATGCTTT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	6											173	159	163					6																	34826116		1928	4151	6079	34934094	SO:0001819	synonymous_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1983G>C	6.37:g.34826116G>C			34934094	Q9NXE0	Silent	SNP	ENST00000192788.5	37	CCDS43455.1																																																																																				0.498	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		C	34826116	G	C	34826116	2	2	295	1	0	0	0	0	0	0	0	1	16968	1306	46	3		3	UHRF1BP1	6	34826116	Silent	SNP	G	TCGA-25-1326-01A-01W-0492-08	8808660	34826116	136288951	39	16191											
PTCRA	171558	broad.mit.edu	37	6	42890861	42890861	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:42890861T>A	ENST00000304672.1	+	2	236	c.155T>A	c.(154-156)gTt>gAt	p.V52D	PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	52					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)		p.V52D(1)		large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GTCCTTGATGTTGCACCCCCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	6											162	137	145					6																	42890861		2203	4300	6503	42998839	SO:0001583	missense	171558			AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.155T>A	6.37:g.42890861T>A	ENSP00000304447:p.Val52Asp		42998839	Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	CCDS4874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.88|13.88	2.369198|2.369198	0.42003|0.42003	.|.	.|.	ENSG00000171611|ENSG00000171611	ENST00000418903|ENST00000304672	.|T	.|0.43688	.|0.94	5.84|5.84	-4.87|-4.87	0.03123|0.03123	.|Immunoglobulin-like fold (1);	.|0.923968	.|0.08971	.|N	.|0.867241	T|T	0.31670|0.31670	0.0804|0.0804	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999994|0.999994	.|D	.|0.89917	.|1.0	.|D	.|0.75020	.|0.985	T|T	0.42207|0.42207	-0.9465|-0.9465	6|10	0.87932|0.87932	D|D	0|0	-1.6237|-1.6237	13.824|13.824	0.63340|0.63340	0.0:0.6111:0.0:0.3889|0.0:0.6111:0.0:0.3889	.|.	.|52	.|Q6ISU1	.|PTCRA_HUMAN	M|D	63|52	.|ENSP00000304447:V52D	ENSP00000407061:L63M|ENSP00000304447:V52D	L|V	+|+	1|2	2|0	PTCRA|PTCRA	42998839|42998839	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.370000|0.370000	0.29829|0.29829	-0.100000|-0.100000	0.10990|0.10990	-1.233000|-1.233000	0.02551|0.02551	-1.007000|-1.007000	0.02485|0.02485	TTG|GTT		0.612	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		A	42890861	T	A	42890861	3	1	295	1	0	0	0	0	1	0	0	0	12738	1725	60	5	161	5	PTCRA	6	42890861	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	8064745	42890861	128224206	40	16192											
CAPN11	11131	broad.mit.edu	37	6	44145089	44145089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:44145089C>T	ENST00000398776.1	+	12	1386	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	CAPN11_ENST00000542245.1_Nonsense_Mutation_p.Q450*	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	450	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.Q450*(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCCTAATGCAGAAGAACTG	0.612																																																1	Substitution - Nonsense(1)	ovary(1)	6											45	50	48					6																	44145089		2104	4252	6356	44253067	SO:0001587	stop_gained	11131			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1348C>T	6.37:g.44145089C>T	ENSP00000381758:p.Gln450*		44253067	B2RA64|Q5T3G1|Q8N4R5	Nonsense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	C	39	7.642852	0.98406	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	.	.	.	4.79	4.79	0.61399	.	0.355316	0.21210	N	0.078338	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9818	0.86329	0.0:1.0:0.0:0.0	.	.	.	.	X	450	.	ENSP00000381758:Q450X	Q	+	1	0	CAPN11	44253067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.483000	0.83821	0.561000	0.74099	CAG		0.612	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			T	44145089	C	T	44145089	4	4	295	1	0	0	0	0	0	1	0	0	2624	711	25	2	1394	2	CAPN11	6	44145089	Nonsense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	1254228	44145089	126969978	41	16193											
TTK	7272	broad.mit.edu	37	6	80745120	80745120	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:80745120C>G	ENST00000369798.2	+	16	2021	c.1910C>G	c.(1909-1911)aCa>aGa	p.T637R	TTK_ENST00000509894.1_Missense_Mutation_p.T636R|TTK_ENST00000230510.3_Missense_Mutation_p.T636R	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.T621R(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GCAGTTCACACAATCCATCAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	6											88	85	86					6																	80745120		2203	4300	6503	80801839	SO:0001583	missense	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1910C>G	6.37:g.80745120C>G	ENSP00000358813:p.Thr637Arg		80801839	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755717	0.69648	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.65549	-0.16;-0.16;-0.16	5.62	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146153	0.64402	D	0.000010	T	0.51346	0.1669	N	0.21508	0.67	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.51764	-0.8664	10	0.28530	T	0.3	.	10.4182	0.44335	0.1337:0.7956:0.0:0.0706	.	637;636	P33981;A8K8U5	TTK_HUMAN;.	R	636;636;637	ENSP00000422936:T636R;ENSP00000230510:T636R;ENSP00000358813:T637R	ENSP00000230510:T636R	T	+	2	0	TTK	80801839	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.688000	0.68227	0.699000	0.31761	0.467000	0.42956	ACA		0.299	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			G	80745120	C	G	80745120	3	3	295	1	0	0	0	0	1	0	0	0	16720	478	17	3	1968	3	TTK	6	80745120	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	36600031	80745120	90369947	42	16194											
DOPEY1	23033	broad.mit.edu	37	6	83847764	83847764	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:83847764T>C	ENST00000349129.2	+	21	4263	c.4003T>C	c.(4003-4005)Tat>Cat	p.Y1335H	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Y1326H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Y1316H|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1335					protein transport (GO:0015031)			p.Y1335H(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGAGAACTGGTATAGCTGTGG	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											91	91	91					6																	83847764		2203	4300	6503	83904483	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4003T>C	6.37:g.83847764T>C	ENSP00000195654:p.Tyr1335His		83904483	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241510	0.58995	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.37058	1.22;1.23	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.994;0.994	T	0.27088	-1.0084	10	0.38643	T	0.18	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1226;1326;1335	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	H	1335;1316;1316	ENSP00000195654:Y1335H;ENSP00000237163:Y1316H	ENSP00000237163:Y1316H	Y	+	1	0	DOPEY1	83904483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.367000	0.80283	0.528000	0.53228	TAT		0.383	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		C	83847764	T	C	83847764	3	2	295	1	0	0	0	0	1	0	0	0	4707	1638	57	4	4077	4	DOPEY1	6	83847764	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	3102644	83847764	87267303	43	16195											
FRK	2444	broad.mit.edu	37	6	116325071	116325071	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:116325071A>T	ENST00000606080.1	-	2	881	c.435T>A	c.(433-435)agT>agA	p.S145R	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	145	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S145R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TTTGGCTTTCACTTTCTCTGA	0.388																																																1	Substitution - Missense(1)	ovary(1)	6											92	85	87					6																	116325071		2203	4300	6503	116431764	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.435T>A	6.37:g.116325071A>T	ENSP00000476145:p.Ser145Arg		116431764	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.805848	0.50421	.	.	ENSG00000111816	ENST00000368626	D	0.94793	-3.52	5.97	2.31	0.28768	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	M	0.88031	2.925	0.80722	D	1	B	0.24317	0.101	B	0.24541	0.054	D	0.87380	0.2356	10	0.72032	D	0.01	.	9.5341	0.39211	0.7288:0.0:0.2712:0.0	.	145	P42685	FRK_HUMAN	R	145	ENSP00000357615:S145R	ENSP00000357615:S145R	S	-	3	2	FRK	116431764	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.514000	0.35834	0.163000	0.19507	0.533000	0.62120	AGT		0.388	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		T	116325071	A	T	116325071	3	4	295	1	0	0	0	0	1	0	0	0	6048	156	6	5	1110	5	FRK	6	116325071	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	32477307	116325071	54789996	44	16196											
THEMIS	387357	broad.mit.edu	37	6	128150780	128150780	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:128150780G>C	ENST00000368248.2	-	3	698	c.550C>G	c.(550-552)Cta>Gta	p.L184V	THEMIS_ENST00000368250.1_Missense_Mutation_p.L105V|THEMIS_ENST00000543064.1_Missense_Mutation_p.L184V|THEMIS_ENST00000537166.1_Missense_Mutation_p.L149V	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	184	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L184V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATCTCCTTTAGAGTGTAAATA	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											134	130	131					6																	128150780		2203	4300	6503	128192473	SO:0001583	missense	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.550C>G	6.37:g.128150780G>C	ENSP00000357231:p.Leu184Val		128192473	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648121	0.47258	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	6.14	3.45	0.39498	.	0.000000	0.64402	D	0.000002	T	0.31009	0.0783	M	0.80422	2.495	0.38031	D	0.935154	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.23655	-1.0182	10	0.87932	D	0	-10.382	12.2594	0.54642	0.185:0.0:0.815:0.0	.	184;184	F5H1J9;Q8N1K5	.;THMS1_HUMAN	V	105;184;184;149	ENSP00000357233:L105V;ENSP00000439594:L184V;ENSP00000357231:L184V;ENSP00000439863:L149V	ENSP00000357231:L184V	L	-	1	2	THEMIS	128192473	0.998000	0.40836	0.836000	0.33094	0.585000	0.36419	2.077000	0.41557	0.475000	0.27415	-0.205000	0.12727	CTA		0.368	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		C	128150780	G	C	128150780	3	2	295	1	0	0	0	0	1	0	0	0	15860	933	33	3	1512	3	THEMIS	6	128150780	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	11825709	128150780	42964287	45	16197											
ARG1	383	broad.mit.edu	37	6	131897815	131897815	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:131897815G>T	ENST00000368087.3	+	2	209	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L	ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000356962.2_Missense_Mutation_p.V24L|MED23_ENST00000354577.4_Intron			P05089	ARGI1_HUMAN	arginase 1	24					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)	p.V24L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	ACGAGGAGGGGTGGAAGAAGG	0.388																																																1	Substitution - Missense(1)	ovary(1)	6											100	101	101					6																	131897815		2203	4300	6503	131939508	SO:0001583	missense	383				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"arginase, liver"			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.70G>T	6.37:g.131897815G>T	ENSP00000357066:p.Val24Leu		131939508	A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940386	0.92526	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;D;D	0.84800	-1.9;-1.9;-1.9	5.37	5.37	0.77165	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	D	0.92054	0.7482	M	0.90814	3.15	0.80722	D	1	D;D	0.54964	0.962;0.969	P;P	0.60473	0.802;0.875	D	0.93388	0.6749	10	0.87932	D	0	-6.0575	16.6037	0.84822	0.0:0.0:1.0:0.0	.	24;24	P05089-2;P05089	.;ARGI1_HUMAN	L	24	ENSP00000357066:V24L;ENSP00000349446:V24L;ENSP00000417694:V24L	ENSP00000349446:V24L	V	+	1	0	ARG1	131939508	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.173000	0.65010	2.535000	0.85469	0.655000	0.94253	GTG		0.388	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			T	131897815	G	T	131897815	3	4	295	1	0	0	0	0	1	0	0	0	857	1261	44	3	76	3	ARG1	6	131897815	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	3747035	131897815	39217252	46	16198											
TAAR6	319100	broad.mit.edu	37	6	132891644	132891644	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:132891644C>A	ENST00000275198.1	+	1	184	c.184C>A	c.(184-186)Cag>Aag	p.Q62K		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	62					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.Q62K(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CCATTTCAAGCAGCTGCACTC	0.537																																																1	Substitution - Missense(1)	ovary(1)	6											201	175	184					6																	132891644		2203	4300	6503	132933337	SO:0001583	missense	319100			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.184C>A	6.37:g.132891644C>A	ENSP00000275198:p.Gln62Lys		132933337	Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663463	0.47572	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.69926	-0.44	4.84	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000127	T	0.32763	0.0840	N	0.25031	0.7	0.28445	N	0.916599	B	0.19445	0.036	B	0.29267	0.1	T	0.23833	-1.0177	10	0.35671	T	0.21	-6.9222	10.6496	0.45640	0.0:0.5964:0.3302:0.0734	.	62	Q96RI8	TAAR6_HUMAN	K	62;45	ENSP00000275198:Q62K	ENSP00000275198:Q62K	Q	+	1	0	TAAR6	132933337	0.990000	0.36364	0.831000	0.32960	0.395000	0.30598	1.499000	0.35671	0.619000	0.30197	0.563000	0.77884	CAG		0.537	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		A	132891644	C	A	132891644	3	1	295	1	0	0	0	0	1	0	0	0	15492	711	25	3	186	3	TAAR6	6	132891644	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	993829	132891644	38223423	47	16199											
FNDC1	84624	broad.mit.edu	37	6	159654033	159654033	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr6:159654033G>T	ENST00000297267.9	+	11	2689	c.2489G>T	c.(2488-2490)aGg>aTg	p.R830M	FNDC1_ENST00000340366.6_Missense_Mutation_p.R767M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	830					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R830M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAACGGGAGGTCTCCAAGC	0.677																																																1	Substitution - Missense(1)	ovary(1)	6											22	26	25					6																	159654033		2004	4177	6181	159574023	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2489G>T	6.37:g.159654033G>T	ENSP00000297267:p.Arg830Met		159574023	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.923848|1.923848	0.34002|0.34002	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.13420	.|2.59;2.67	5.53|5.53	4.66|4.66	0.58398|0.58398	.|.	.|0.591113	.|0.16670	.|N	.|0.204394	T|T	0.14917|0.14917	0.0360|0.0360	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.76071	.|0.987;0.927	T|T	0.07501|0.07501	-1.0769|-1.0769	5|10	.|0.87932	.|D	.|0	-16.672|-16.672	11.7307|11.7307	0.51735|0.51735	0.0838:0.0:0.9162:0.0|0.0838:0.0:0.9162:0.0	.|.	.|767;830	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	D|M	725|830;767	.|ENSP00000297267:R830M;ENSP00000342460:R767M	.|ENSP00000297267:R830M	E|R	+|+	3|2	2|0	FNDC1|FNDC1	159574023|159574023	0.390000|0.390000	0.25213|0.25213	0.000000|0.000000	0.03702|0.03702	0.420000|0.420000	0.31355|0.31355	2.605000|2.605000	0.46283|0.46283	1.339000|1.339000	0.45563|0.45563	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.677	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		T	159654033	G	T	159654033	3	4	295	1	0	0	0	0	1	0	0	0	5968	1000	35	3	2531	3	FNDC1	6	159654033	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	26762389	159654033	11461034	48	16200											
TNRC18	84629	broad.mit.edu	37	7	5410134	5410134	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr7:5410134C>G	ENST00000430969.1	-	11	4439	c.4091G>C	c.(4090-4092)gGa>gCa	p.G1364A	TNRC18_ENST00000399537.4_Missense_Mutation_p.G1364A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1364							chromatin binding (GO:0003682)	p.G419A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCCTGGGCTCCAGCAGCACC	0.657																																																1	Substitution - Missense(1)	ovary(1)	7											15	15	15					7																	5410134		1997	4169	6166	5376660	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4091G>C	7.37:g.5410134C>G	ENSP00000395538:p.Gly1364Ala		5376660	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380913	0.05000	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.10573	2.86;2.86	4.72	1.44	0.22558	.	0.537261	0.13975	N	0.349903	T	0.05090	0.0136	L	0.28740	0.885	0.09310	N	1	B	0.18013	0.025	B	0.08055	0.003	T	0.43261	-0.9402	10	0.02654	T	1	.	2.4248	0.04457	0.4259:0.3516:0.1165:0.106	.	1364	O15417	TNC18_HUMAN	A	1364;1364;419;419	ENSP00000382452:G1364A;ENSP00000395538:G1364A	ENSP00000330383:G419A	G	-	2	0	TNRC18	5376660	0.000000	0.05858	0.011000	0.14972	0.149000	0.21700	0.824000	0.27379	0.398000	0.25338	0.313000	0.20887	GGA		0.657	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	5410134	C	G	5410134	3	3	295	1	0	0	0	0	1	0	0	0	16339	855	30	3	4895	3	TNRC18	7	5410134	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		5410134	153728529	49	16201											
ZKSCAN5	23660	broad.mit.edu	37	7	99123674	99123674	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr7:99123674G>C	ENST00000394170.2	+	6	1262	c.1011G>C	c.(1009-1011)aaG>aaC	p.K337N	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.K337N|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.K337N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K337N(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCAGCCCTAAGCAAAGCACAC	0.517																																																1	Substitution - Missense(1)	ovary(1)	7											78	63	68					7																	99123674		2203	4300	6503	98961610	SO:0001583	missense	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1011G>C	7.37:g.99123674G>C	ENSP00000377725:p.Lys337Asn		98961610	A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299698	0.23650	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.05580	3.42;3.42;3.42	4.64	3.75	0.43078	.	0.000000	0.53938	D	0.000048	T	0.10809	0.0264	N	0.22421	0.69	0.35467	D	0.796983	D;D	0.71674	0.983;0.998	P;D	0.76071	0.656;0.987	T	0.06180	-1.0841	10	0.72032	D	0.01	.	6.362	0.21433	0.1936:0.0:0.8064:0.0	.	337;337	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	N	337	ENSP00000322872:K337N;ENSP00000392104:K337N;ENSP00000377725:K337N	ENSP00000322872:K337N	K	+	3	2	ZKSCAN5	98961610	0.063000	0.20901	0.982000	0.44146	0.290000	0.27261	1.318000	0.33643	2.590000	0.87494	0.655000	0.94253	AAG		0.517	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		C	99123674	G	C	99123674	3	2	295	1	0	0	0	0	1	0	0	0	17690	962	34	3	1029	3	ZKSCAN5	7	99123674	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	93713540	99123674	60014989	50	16202											
VCPIP1	80124	broad.mit.edu	37	8	67577756	67577756	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr8:67577756C>G	ENST00000310421.4	-	1	1696	c.1438G>C	c.(1438-1440)Gtt>Ctt	p.V480L	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	480					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.V480L(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCTGGAGGAACATGAAGTTCA	0.453																																					NSCLC(179;265 2915 6144 43644)											1	Substitution - Missense(1)	ovary(1)	8											140	142	141					8																	67577756		2203	4300	6503	67740310	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1438G>C	8.37:g.67577756C>G	ENSP00000309031:p.Val480Leu		67740310	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378982	0.42207	.	.	ENSG00000175073	ENST00000310421	T	0.31769	1.48	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.44283	-0.9338	10	0.37606	T	0.19	-12.0444	18.9562	0.92659	0.0:1.0:0.0:0.0	.	480	Q96JH7	VCIP1_HUMAN	L	480	ENSP00000309031:V480L	ENSP00000309031:V480L	V	-	1	0	VCPIP1	67740310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.913000	0.63341	2.459000	0.83118	0.655000	0.94253	GTT		0.453	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			G	67577756	C	G	67577756	3	3	295	1	0	0	0	0	1	0	0	0	17141	478	17	3	2242	3	VCPIP1	8	67577756	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		67577756	78786266	51	16203											
ARFGEF1	10565	broad.mit.edu	37	8	68139375	68139375	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr8:68139375C>T	ENST00000262215.3	-	27	4302	c.3913G>A	c.(3913-3915)Gtc>Atc	p.V1305I	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.V143I|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.V759I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1305					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.V1305I(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TACTCACTGACAATGTGCCCG	0.373																																																1	Substitution - Missense(1)	ovary(1)	8											79	73	75					8																	68139375		2203	4299	6502	68301929	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3913G>A	8.37:g.68139375C>T	ENSP00000262215:p.Val1305Ile		68301929	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778174	0.49786	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.71103	-0.05;-0.54;-0.13	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	N	0.03608	-0.345	0.58432	D	0.999999	P;B;B	0.36282	0.546;0.017;0.046	B;B;B	0.31442	0.13;0.009;0.009	T	0.53697	-0.8402	10	0.07482	T	0.82	.	19.5224	0.95190	0.0:1.0:0.0:0.0	.	1305;783;759	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	I	759;1305;143	ENSP00000428429:V759I;ENSP00000262215:V1305I;ENSP00000430891:V143I	ENSP00000262215:V1305I	V	-	1	0	ARFGEF1	68301929	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.611000	0.88343	0.585000	0.79938	GTC		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		T	68139375	C	T	68139375	3	4	295	1	0	0	0	0	1	0	0	0	852	478	17	2	1688	2	ARFGEF1	8	68139375	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	561619	68139375	78224647	52	16204											
FAM164A	51101	broad.mit.edu	37	8	79610699	79610699	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr8:79610699C>T	ENST00000263849.4	+	7	757	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F		NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	219							metal ion binding (GO:0046872)	p.L219F(1)									GGGAAACAAACTTCAGACCTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	8											124	120	121					8																	79610699		2203	4300	6503	79773254	SO:0001583	missense	51101				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.655C>T	8.37:g.79610699C>T	ENSP00000263849:p.Leu219Phe		79773254	Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	CCDS6223.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.883|8.883	0.952160|0.952160	0.18431|0.18431	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.44482|.	0.92|.	5.85|5.85	3.9|3.9	0.45041|0.45041	.|.	1.077760|.	0.06950|.	N|.	0.814486|.	T|T	0.42562|0.42562	0.1208|0.1208	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B|.	0.25955|.	0.138|.	B|.	0.21151|.	0.033|.	T|T	0.11542|0.11542	-1.0583|-1.0583	9|5	.|.	.|.	.|.	-7.5087|-7.5087	9.309|9.309	0.37891|0.37891	0.1783:0.6301:0.1916:0.0|0.1783:0.6301:0.1916:0.0	.|.	219|.	Q96GY0|.	F164A_HUMAN|.	F|I	219|51	ENSP00000263849:L219F|.	.|.	L|T	+|+	1|2	0|0	FAM164A|FAM164A	79773254|79773254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	1.286000|1.286000	0.33273|0.33273	2.767000|2.767000	0.95098|0.95098	0.557000|0.557000	0.71058|0.71058	CTT|ACT		0.343	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		T	79610699	C	T	79610699	3	4	295	1	0	0	0	0	1	0	0	0	5478	565	20	2	681	2	FAM164A	8	79610699	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	11471324	79610699	66753323	53	16205											
PKHD1L1	93035	broad.mit.edu	37	8	110534995	110534995	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr8:110534995G>C	ENST00000378402.5	+	75	12310	c.12206G>C	c.(12205-12207)aGg>aCg	p.R4069T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4069					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R4073T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAGTTGAAAGGTCTGCATTT	0.512										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	ovary(1)	8											54	57	56					8																	110534995		2178	4278	6456	110604171	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12206G>C	8.37:g.110534995G>C	ENSP00000367655:p.Arg4069Thr		110604171	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486654	0.26686	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85955	-2.05;-1.88	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.80929	0.4718	M	0.64997	1.995	0.31713	N	0.639229	P	0.36144	0.539	B	0.28709	0.093	T	0.78940	-0.2006	10	0.10111	T	0.7	.	17.913	0.88940	0.0:0.0:1.0:0.0	.	4069	Q86WI1	PKHL1_HUMAN	T	4069;997	ENSP00000367655:R4069T;ENSP00000437376:R997T	ENSP00000367655:R4069T	R	+	2	0	PKHD1L1	110604171	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	4.467000	0.60155	2.831000	0.97527	0.650000	0.86243	AGG		0.512	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110534995	G	C	110534995	3	2	295	1	0	0	0	0	1	0	0	0	11972	1000	35	3	12504	3	PKHD1L1	8	110534995	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	30924296	110534995	35829027	54	16206											
PARP10	84875	broad.mit.edu	37	8	145058881	145058881	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr8:145058881A>C	ENST00000313028.7	-	5	1383	c.1289T>G	c.(1288-1290)gTg>gGg	p.V430G	PARP10_ENST00000524918.1_Missense_Mutation_p.V430G|PARP10_ENST00000525773.1_Missense_Mutation_p.V442G|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	430					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.V430G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTGGGCTCACAGGCCCTGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	8											123	120	121					8																	145058881		2203	4300	6503	145130869	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1289T>G	8.37:g.145058881A>C	ENSP00000325618:p.Val430Gly		145130869	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	A	2.828	-0.243216	0.05906	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.10668	2.85;2.86;2.86	2.89	-4.56	0.03431	.	1.655720	0.04409	N	0.365635	T	0.09730	0.0239	L	0.50333	1.59	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.11329	0.006;0.006;0.006	T	0.44742	-0.9308	10	0.59425	D	0.04	.	3.4191	0.07386	0.3662:0.1693:0.0:0.4645	.	442;430;430	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	G	430;136;430;442	ENSP00000431620:V430G;ENSP00000325618:V430G;ENSP00000434776:V442G	ENSP00000325618:V430G	V	-	2	0	PARP10	145130869	0.000000	0.05858	0.017000	0.16124	0.019000	0.09904	-0.650000	0.05378	-0.399000	0.07668	0.451000	0.29950	GTG		0.617	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		C	145058881	A	C	145058881	3	2	295	1	0	0	0	0	1	0	0	0	11455	159	6	5	1816	5	PARP10	8	145058881	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	34523886	145058881	1305141	55	16207											
CENPP	401541	broad.mit.edu	37	9	95094528	95094528	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr9:95094528C>A	ENST00000375587.3	+	2	699	c.184C>A	c.(184-186)Cat>Aat	p.H62N		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	62					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.H62N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TCAGCTTGGACATTTAGAATC	0.343																																																1	Substitution - Missense(1)	ovary(1)	9											73	70	71					9																	95094528		2203	4300	6503	94134349	SO:0001583	missense	401541			AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.184C>A	9.37:g.95094528C>A	ENSP00000364737:p.His62Asn		94134349	B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	0.427	-0.905243	0.02453	.	.	ENSG00000188312	ENST00000375587	.	.	.	5.16	4.25	0.50352	.	0.922896	0.09246	N	0.828575	T	0.46405	0.1391	L	0.42245	1.32	0.80722	D	1	B	0.33694	0.421	B	0.24541	0.054	T	0.19192	-1.0313	9	0.19147	T	0.46	-1.7998	11.6725	0.51411	0.1779:0.8221:0.0:0.0	.	62	Q6IPU0	CENPP_HUMAN	N	62	.	ENSP00000364737:H62N	H	+	1	0	CENPP	94134349	0.806000	0.28996	0.996000	0.52242	0.541000	0.35023	0.328000	0.19681	1.469000	0.48083	0.551000	0.68910	CAT		0.343	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		A	95094528	C	A	95094528	3	1	295	1	0	0	0	0	1	0	0	0	3240	478	17	3	190	3	CENPP	9	95094528	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		95094528	46118903	56	16208											
PTCH1	5727	broad.mit.edu	37	9	98218563	98218563	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr9:98218563C>A	ENST00000331920.6	-	19	3600	c.3301G>T	c.(3301-3303)Gct>Tct	p.A1101S	PTCH1_ENST00000429896.2_Missense_Mutation_p.A950S|PTCH1_ENST00000375274.2_Missense_Mutation_p.A1100S|PTCH1_ENST00000430669.2_Missense_Mutation_p.A1035S|PTCH1_ENST00000421141.1_Missense_Mutation_p.A950S|PTCH1_ENST00000418258.1_Missense_Mutation_p.A950S|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1035S	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1101					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.A1101S(2)|p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CATACCAAAGCAACGTGAACG	0.498																																																3	Substitution - Missense(2)|Deletion - In frame(1)	ovary(2)|central_nervous_system(1)	9											138	110	120					9																	98218563		2203	4300	6503	97258384	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3301G>T	9.37:g.98218563C>A	ENSP00000332353:p.Ala1101Ser		97258384	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696707	0.68386	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.45	5.45	0.79879	.	0.049462	0.85682	D	0.000000	D	0.96479	0.8851	L	0.47716	1.5	0.80722	D	1	B;D;P	0.62365	0.383;0.991;0.771	B;D;P	0.63877	0.321;0.919;0.475	D	0.95847	0.8871	10	0.40728	T	0.16	-18.5009	19.2907	0.94098	0.0:1.0:0.0:0.0	.	1035;1100;1101	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	S	1101;1035;950;950;537;1035;950;1100	ENSP00000332353:A1101S;ENSP00000389744:A1035S;ENSP00000399981:A950S;ENSP00000396135:A950S;ENSP00000410287:A1035S;ENSP00000414823:A950S;ENSP00000364423:A1100S	ENSP00000332353:A1101S	A	-	1	0	PTCH1	97258384	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	4.632000	0.61311	2.575000	0.86900	0.655000	0.94253	GCT		0.498	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		A	98218563	C	A	98218563	3	1	295	1	0	0	0	0	1	0	0	0	12733	710	25	3	1062	3	PTCH1	9	98218563	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	3124035	98218563	42994868	57	16209											
GALNT12	79695	broad.mit.edu	37	9	101585623	101585623	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr9:101585623C>G	ENST00000375011.3	+	2	457	c.457C>G	c.(457-459)Ctt>Gtt	p.L153V		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	153	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L153V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTCAACTCTCCTTCGGACAGT	0.443																																																1	Substitution - Missense(1)	ovary(1)	9											105	103	104					9																	101585623		2203	4300	6503	100625444	SO:0001583	missense	79695			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.457C>G	9.37:g.101585623C>G	ENSP00000364150:p.Leu153Val		100625444	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.744988	0.69418	.	.	ENSG00000119514	ENST00000375011	T	0.59502	0.26	5.37	4.47	0.54385	Glycosyl transferase, family 2 (1);	0.065887	0.64402	D	0.000009	T	0.72819	0.3508	M	0.76938	2.355	0.49798	D	0.999824	D	0.76494	0.999	D	0.87578	0.998	T	0.75351	-0.3348	10	0.87932	D	0	.	8.6798	0.34201	0.0:0.8263:0.0:0.1737	.	153	Q8IXK2	GLT12_HUMAN	V	153	ENSP00000364150:L153V	ENSP00000364150:L153V	L	+	1	0	GALNT12	100625444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.255000	0.51484	2.477000	0.83638	0.655000	0.94253	CTT		0.443	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		G	101585623	C	G	101585623	3	3	295	1	0	0	0	0	1	0	0	0	6210	681	24	3	463	3	GALNT12	9	101585623	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	3367060	101585623	39627808	58	16210											
CTNNAL1	8727	broad.mit.edu	37	9	111739271	111739271	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr9:111739271T>G	ENST00000325551.4	-	8	1245	c.1159A>C	c.(1159-1161)Agt>Cgt	p.S387R	CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.S387R|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.S387R	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	387					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.S387R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AGACTGTGACTGATTTTCAAA	0.303																																																1	Substitution - Missense(1)	ovary(1)	9											114	102	106					9																	111739271		2191	4293	6484	110779092	SO:0001583	missense	8727			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1159A>C	9.37:g.111739271T>G	ENSP00000320434:p.Ser387Arg		110779092	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	9.974	1.226372	0.22542	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.38887	1.63;1.77;1.11	5.56	3.12	0.35913	.	0.219043	0.56097	D	0.000032	T	0.35653	0.0939	L	0.40543	1.245	0.27035	N	0.964153	B;P;P;B	0.51351	0.427;0.944;0.698;0.427	B;P;P;B	0.50049	0.327;0.629;0.465;0.327	T	0.13845	-1.0494	10	0.23302	T	0.38	-3.9213	4.413	0.11443	0.1685:0.0992:0.0:0.7323	.	387;387;387;387	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	R	387	ENSP00000363723:S387R;ENSP00000320434:S387R;ENSP00000323351:S387R	ENSP00000320434:S387R	S	-	1	0	CTNNAL1	110779092	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	2.533000	0.45667	0.351000	0.24027	-0.408000	0.06270	AGT		0.303	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		G	111739271	T	G	111739271	3	3	295	1	0	0	0	0	1	0	0	0	4015	1580	55	5	1093	5	CTNNAL1	9	111739271	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	10153648	111739271	29474160	59	16211											
OR1K1	392392	broad.mit.edu	37	9	125562795	125562795	+	Missense_Mutation	SNP	C	C	T	rs552980669		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr9:125562795C>T	ENST00000277309.2	+	1	426	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P132S(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCACCCCCTCCCCTATGCCAC	0.607													C|||	1	0.000199681	0	0	5008	,	,		21180	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	9											96	65	75					9																	125562795		2203	4300	6503	124602616	SO:0001583	missense	392392			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.394C>T	9.37:g.125562795C>T	ENSP00000277309:p.Pro132Ser		124602616	B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400229	0.25291	.	.	ENSG00000165204	ENST00000277309	T	0.01295	5.04	4.49	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	U	0.000953	T	0.00666	0.0022	N	0.01048	-1.04	0.22050	N	0.999393	B	0.02656	0.0	B	0.01281	0.0	T	0.49113	-0.8973	10	0.66056	D	0.02	.	8.8535	0.35214	0.0:0.7446:0.0:0.2554	.	132	Q8NGR3	OR1K1_HUMAN	S	132	ENSP00000277309:P132S	ENSP00000277309:P132S	P	+	1	0	OR1K1	124602616	0.999000	0.42202	0.760000	0.31359	0.189000	0.23516	5.243000	0.65395	0.154000	0.19237	0.563000	0.77884	CCC		0.607	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			T	125562795	C	T	125562795	3	4	295	1	0	0	0	0	1	0	0	0	10962	623	22	2	396	2	OR1K1	9	125562795	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	13823524	125562795	15650636	60	16212											
GATA3	2625	broad.mit.edu	37	10	8100622	8100622	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr10:8100622C>T	ENST00000346208.3	+	3	1051	c.596C>T	c.(595-597)tCc>tTc	p.S199F	GATA3_ENST00000379328.3_Missense_Mutation_p.S199F|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	199					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.S199F(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTGGAGTCGTCCCACTCCCGT	0.682			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Substitution - Missense(1)	ovary(1)	10											86	77	80					10																	8100622		2203	4299	6502	8140628	SO:0001583	missense	2625			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.596C>T	10.37:g.8100622C>T	ENSP00000341619:p.Ser199Phe		8140628	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340082	0.41398	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96802	-4.13;-4.11	5.55	5.55	0.83447	.	0.448028	0.25732	N	0.028663	D	0.94958	0.8369	L	0.57536	1.79	0.27964	N	0.936649	B;B	0.22346	0.068;0.006	B;B	0.20384	0.029;0.015	D	0.86734	0.1950	10	0.27785	T	0.31	-24.6358	19.5043	0.95108	0.0:1.0:0.0:0.0	.	199;199	P23771;P23771-2	GATA3_HUMAN;.	F	199	ENSP00000368632:S199F;ENSP00000341619:S199F	ENSP00000341619:S199F	S	+	2	0	GATA3	8140628	0.317000	0.24589	0.171000	0.22900	0.662000	0.39071	4.747000	0.62141	2.607000	0.88179	0.561000	0.74099	TCC		0.682	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		T	8100622	C	T	8100622	3	4	295	1	0	0	0	0	1	0	0	0	6255	855	30	2	602	2	GATA3	10	8100622	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		8100622	127434125	61	16213											
EPC1	80314	broad.mit.edu	37	10	32560725	32560725	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr10:32560725T>G	ENST00000263062.8	-	14	2464	c.2195A>C	c.(2194-2196)cAc>cCc	p.H732P	EPC1_ENST00000319778.6_Missense_Mutation_p.H709P|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000375110.2_Missense_Mutation_p.H659P	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	732					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.H732P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CAGTGCACTGTGGGAACTTGA	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											179	170	173					10																	32560725		2203	4300	6503	32600731	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2195A>C	10.37:g.32560725T>G	ENSP00000263062:p.His732Pro		32600731	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742593	0.49151	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.52	5.52	0.82312	.	0.343089	0.36665	N	0.002474	T	0.66277	0.2773	L	0.48642	1.525	0.43191	D	0.995022	B;B;D	0.61697	0.0;0.0;0.99	B;B;P	0.59357	0.0;0.002;0.856	T	0.64356	-0.6427	9	0.34782	T	0.22	-4.4886	15.6876	0.77424	0.0:0.0:0.0:1.0	.	659;709;732	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	P	659;709;732	.	ENSP00000263062:H732P	H	-	2	0	EPC1	32600731	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.844000	0.55873	2.101000	0.63845	0.378000	0.23410	CAC		0.433	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			G	32560725	T	G	32560725	3	3	295	1	0	0	0	0	1	0	0	0	5160	1696	59	5	323	5	EPC1	10	32560725	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	24460103	32560725	102974022	62	16214											
ARHGAP22	58504	broad.mit.edu	37	10	49654532	49654532	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr10:49654532C>G	ENST00000249601.4	-	10	2295	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q	ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E500Q|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E673Q|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E508Q|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E577Q|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E558Q|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E683Q	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	667					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.E667Q(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCCTCCTCTCCGCATCCTCC	0.502																																																1	Substitution - Missense(1)	ovary(1)	10											147	140	142					10																	49654532		2203	4300	6503	49324538	SO:0001583	missense	58504			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1999G>C	10.37:g.49654532C>G	ENSP00000249601:p.Glu667Gln		49324538	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619823	0.66787	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.78916	2.43	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	0.999;0.999;0.998;0.999;1.0;1.0	D;D;D;D;D;D	0.85130	0.994;0.994;0.994;0.994;0.997;0.997	T	0.82313	-0.0519	10	0.62326	D	0.03	.	15.4296	0.75081	0.0:1.0:0.0:0.0	.	673;667;683;667;577;500	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	Q	667;558;508;500;577;673;683	ENSP00000249601:E667Q;ENSP00000363287:E558Q;ENSP00000363285:E508Q;ENSP00000422868:E500Q;ENSP00000410054:E577Q;ENSP00000416701:E673Q;ENSP00000412461:E683Q	ENSP00000249601:E667Q	E	-	1	0	ARHGAP22	49324538	1.000000	0.71417	0.769000	0.31535	0.367000	0.29736	7.632000	0.83247	1.869000	0.54173	0.491000	0.48974	GAG		0.502	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		G	49654532	C	G	49654532	3	3	295	1	0	0	0	0	1	0	0	0	872	864	30	3	101	3	ARHGAP22	10	49654532	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	17093807	49654532	85880215	63	16215											
ADK	132	broad.mit.edu	37	10	75984351	75984351	+	Splice_Site	SNP	T	T	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr10:75984351T>G	ENST00000286621.2	+	3	244		c.e3+2		ADK_ENST00000539909.1_Splice_Site|ADK_ENST00000372734.3_Splice_Site|ADK_ENST00000541550.1_Intron	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase						adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	CAAGGAACTGTAAGTGCATTA	0.308																																																1	Unknown(1)	ovary(1)	10											111	98	102					10																	75984351		2203	4300	6503	75654357	SO:0001630	splice_region_variant	132			U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"adenosine 5'-phosphotransferase"	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.194+2T>G	10.37:g.75984351T>G			75654357	B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Splice_Site	SNP	ENST00000286621.2	37	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417497	0.62622	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2994	0.49295	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADK	75654357	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.632000	0.61311	2.237000	0.73441	0.459000	0.35465	.		0.308	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721	Intron	G	75984351	T	G	75984351	5	3	295	1	0	0	0	0	0	0	1	0	320	1652	57	5	224	5	ADK	10	75984351	Splice_Site	SNP	T	TCGA-25-1326-01A-01W-0492-08	26329819	75984351	59550396	64	16216											
SORCS3	22986	broad.mit.edu	37	10	106675692	106675692	+	Splice_Site	SNP	T	T	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr10:106675692T>C	ENST00000369701.3	+	3	1022		c.e3+2			NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3						learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.?(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAAAGGAAGGTAAGAGACTGG	0.448																																					NSCLC(116;1497 1690 7108 13108 14106)											1	Unknown(1)	ovary(1)	10											113	97	102					10																	106675692		2203	4300	6503	106665682	SO:0001630	splice_region_variant	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.795+2T>C	10.37:g.106675692T>C			106665682	Q5VXF9|Q9NQJ2	Splice_Site	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.590249	0.86851	.	.	ENSG00000156395	ENST00000369701	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2815	0.73787	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SORCS3	106665682	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.694000	0.84235	2.015000	0.59207	0.533000	0.62120	.		0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	Intron	C	106675692	T	C	106675692	5	2	295	1	0	0	0	0	0	0	1	0	14935	1652	57	4	807	4	SORCS3	10	106675692	Splice_Site	SNP	T	TCGA-25-1326-01A-01W-0492-08	30691341	106675692	28859055	65	16217											
NR1H3	10062	broad.mit.edu	37	11	47282969	47282969	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr11:47282969G>A	ENST00000467728.1	+	4	1915	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NR1H3_ENST00000405576.1_Missense_Mutation_p.R181Q|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226Q|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226Q|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181Q|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226Q|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135Q|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181Q			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	226	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R226Q(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CAGTGTAACCGGCGCTCCTTT	0.622																																																1	Substitution - Missense(1)	ovary(1)	11											56	54	54					11																	47282969		2201	4298	6499	47239545	SO:0001583	missense	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.677G>A	11.37:g.47282969G>A	ENSP00000420656:p.Arg226Gln		47239545	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	4.656	0.122010	0.08931	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000531660;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;T;D;D;D;D;D	0.95001	-3.58;-3.07;-3.0;0.92;-3.08;-3.58;-3.58;-3.08;-3.28	5.35	0.195	0.15151	Nuclear hormone receptor, ligand-binding (2);	0.490245	0.21912	N	0.067300	T	0.78394	0.4276	N	0.01705	-0.755	0.23459	N	0.997636	B;B;B;B;B	0.19583	0.0;0.0;0.0;0.037;0.001	B;B;B;B;B	0.08055	0.0;0.0;0.0;0.003;0.002	T	0.69453	-0.5141	10	0.09590	T	0.72	.	5.4135	0.16360	0.4661:0.0:0.4031:0.1308	.	232;181;226;181;226	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	Q	181;181;181;92;226;226;226;226;135	ENSP00000378793:R181Q;ENSP00000385073:R181Q;ENSP00000433271:R181Q;ENSP00000434650:R92Q;ENSP00000385801:R226Q;ENSP00000387946:R226Q;ENSP00000420656:R226Q;ENSP00000384745:R226Q;ENSP00000432073:R135Q	ENSP00000378793:R181Q	R	+	2	0	NR1H3	47239545	0.938000	0.31826	0.247000	0.24249	0.929000	0.56500	1.643000	0.37217	-0.041000	0.13558	-0.732000	0.03574	CGG		0.622	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			A	47282969	G	A	47282969	3	1	295	1	0	0	0	0	1	0	0	0	10618	1116	39	1	691	1	NR1H3	11	47282969	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08		47282969	87723547	66	16218											
PLAC1L	219990	broad.mit.edu	37	11	59814511	59814511	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr11:59814511T>A	ENST00000278855.2	+	4	627	c.442T>A	c.(442-444)Tta>Ata	p.L148I		NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		148						extracellular region (GO:0005576)		p.L148I(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGCAGAAGAGTTAGGATTATT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11											107	108	108					11																	59814511		2201	4295	6496	59571087	SO:0001583	missense	219990																														ENST00000278855.2:c.442T>A	11.37:g.59814511T>A	ENSP00000278855:p.Leu148Ile		59571087	E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659368	0.47467	.	.	ENSG00000149507	ENST00000278855	.	.	.	3.28	-1.98	0.07480	.	0.343029	0.16247	N	0.222868	T	0.45875	0.1364	L	0.50333	1.59	0.80722	D	1	D	0.60160	0.987	P	0.50405	0.64	T	0.45963	-0.9225	9	0.49607	T	0.09	-5.1687	3.3138	0.07026	0.2264:0.3779:0.0:0.3956	.	148	Q86WS3	PLACL_HUMAN	I	148	.	ENSP00000278855:L148I	L	+	1	2	PLAC1L	59571087	0.573000	0.26676	0.949000	0.38748	0.867000	0.49689	-1.124000	0.03260	-0.428000	0.07339	-0.388000	0.06559	TTA		0.358	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			A	59814511	T	A	59814511	3	1	295	1	0	0	0	0	1	0	0	0	12013	1722	60	5	456	5	PLAC1L	11	59814511	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	12531542	59814511	75192005	67	16219											
OR8D1	283159	broad.mit.edu	37	11	124180084	124180084	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr11:124180084G>C	ENST00000357821.2	-	1	649	c.579C>G	c.(577-579)caC>caG	p.H193Q		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H193Q(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTCATTGAGGTGTGTGTTGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											59	48	52					11																	124180084		2200	4299	6499	123685294	SO:0001583	missense	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.579C>G	11.37:g.124180084G>C	ENSP00000350474:p.His193Gln		123685294	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	10.55	1.382482	0.24944	.	.	ENSG00000196341	ENST00000357821	T	0.00076	8.76	4.29	-7.86	0.01187	GPCR, rhodopsin-like superfamily (1);	1.358100	0.05592	U	0.574897	T	0.00109	0.0003	L	0.27944	0.81	0.09310	N	1	B	0.18166	0.026	B	0.16289	0.015	T	0.25082	-1.0142	10	0.72032	D	0.01	.	4.0686	0.09872	0.5499:0.0846:0.2233:0.1422	.	193	Q8WZ84	OR8D1_HUMAN	Q	193	ENSP00000350474:H193Q	ENSP00000350474:H193Q	H	-	3	2	OR8D1	123685294	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.462000	0.00997	-1.344000	0.02216	-0.363000	0.07495	CAC		0.463	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		C	124180084	G	C	124180084	3	2	295	1	0	0	0	0	1	0	0	0	11231	1252	44	3	350	3	OR8D1	11	124180084	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	64365573	124180084	10826432	68	16220											
ABCC9	10060	broad.mit.edu	37	12	22012550	22012550	+	Silent	SNP	C	C	T	rs587780845		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr12:22012550C>T	ENST00000261201.4	-	20	2474	c.2475G>A	c.(2473-2475)gcG>gcA	p.A825A	ABCC9_ENST00000345162.2_Silent_p.A789A|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.A825A	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	825	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.A825A(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTGATACAGCGCTCGTGCCA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	12											189	187	188					12																	22012550		2203	4300	6503	21903817	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2475G>A	12.37:g.22012550C>T			21903817	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	22012550	C	T	22012550	2	4	295	1	0	0	0	0	0	0	0	1	59	755	27	1		1	ABCC9	12	22012550	Silent	SNP	C	TCGA-25-1326-01A-01W-0492-08		22012550	111839345	69	16221											
LRRK2	120892	broad.mit.edu	37	12	40715934	40715934	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr12:40715934C>A	ENST00000298910.7	+	36	5326	c.5268C>A	c.(5266-5268)gaC>gaA	p.D1756E		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1756					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.D1756E(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAGTCTTAGACAATCATCCAG	0.348																																																1	Substitution - Missense(1)	ovary(1)	12											74	77	76					12																	40715934		2203	4299	6502	39002201	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5268C>A	12.37:g.40715934C>A	ENSP00000298910:p.Asp1756Glu		39002201	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	1.420	-0.573068	0.03882	.	.	ENSG00000188906	ENST00000298910	T	0.69175	-0.38	5.73	-0.191	0.13252	.	0.153463	0.64402	D	0.000019	T	0.35682	0.0940	N	0.10916	0.065	0.25457	N	0.987959	B;B	0.13145	0.001;0.007	B;B	0.09377	0.003;0.004	T	0.14896	-1.0456	10	0.11794	T	0.64	.	4.342	0.11115	0.2345:0.4447:0.0:0.3208	.	1756;1756	Q17RV3;Q5S007	.;LRRK2_HUMAN	E	1756	ENSP00000298910:D1756E	ENSP00000298910:D1756E	D	+	3	2	LRRK2	39002201	0.976000	0.34144	0.054000	0.19295	0.983000	0.72400	0.298000	0.19120	-0.338000	0.08413	-0.378000	0.06908	GAC		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40715934	C	A	40715934	3	1	295	1	0	0	0	0	1	0	0	0	9033	477	17	3	5410	3	LRRK2	12	40715934	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	18703384	40715934	93135961	70	16222											
HOXC6	3223	broad.mit.edu	37	12	54422532	54422532	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr12:54422532C>A	ENST00000243108.4	+	1	391	c.227C>A	c.(226-228)tCc>tAc	p.S76Y	RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000394331.3_5'UTR	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	76					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S76Y(1)|p.S76C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGATCTAATTCCTTTTACCAG	0.493																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	12											111	105	107					12																	54422532		2203	4300	6503	52708799	SO:0001583	missense	3223				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"Homeoboxes / ANTP class : HOXL subclass"	5128	protein-coding gene	gene with protein product		142972	"homeo box C6"	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.227C>A	12.37:g.54422532C>A	ENSP00000243108:p.Ser76Tyr		52708799	B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224020	0.39300	.	.	ENSG00000197757	ENST00000243108	D	0.92595	-3.07	5.54	5.54	0.83059	.	0.111569	0.64402	D	0.000011	D	0.88507	0.6455	L	0.34521	1.04	0.80722	D	1	P	0.44816	0.844	B	0.40534	0.332	D	0.88074	0.2802	10	0.39692	T	0.17	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	76	P09630	HXC6_HUMAN	Y	76	ENSP00000243108:S76Y	ENSP00000243108:S76Y	S	+	2	0	HOXC6	52708799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.357000	0.44125	2.884000	0.98904	0.655000	0.94253	TCC		0.493	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			A	54422532	C	A	54422532	3	1	295	1	0	0	0	0	1	0	0	0	7315	855	30	3	229	3	HOXC6	12	54422532	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	13706598	54422532	79429363	71	16223											
ESYT1	23344	broad.mit.edu	37	12	56531357	56531357	+	Silent	SNP	G	G	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr12:56531357G>A	ENST00000394048.5	+	18	2277	c.2013G>A	c.(2011-2013)aaG>aaA	p.K671K	ESYT1_ENST00000541590.1_Silent_p.K681K|ESYT1_ENST00000267113.4_Silent_p.K681K	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	671	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.K671K(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACTGGTGAAGGGCAAGTCAG	0.542																																																1	Substitution - coding silent(1)	ovary(1)	12											149	152	151					12																	56531357		2203	4300	6503	54817624	SO:0001819	synonymous_variant	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2013G>A	12.37:g.56531357G>A			54817624	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	CCDS8904.1																																																																																				0.542	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		A	56531357	G	A	56531357	2	1	295	1	0	0	0	0	0	0	0	1	5264	991	35	2		2	ESYT1	12	56531357	Silent	SNP	G	TCGA-25-1326-01A-01W-0492-08	2108825	56531357	77320538	72	16224											
NAV3	89795	broad.mit.edu	37	12	78516048	78516048	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr12:78516048A>T	ENST00000397909.2	+	16	4251	c.4078A>T	c.(4078-4080)Act>Tct	p.T1360S	NAV3_ENST00000536525.2_Missense_Mutation_p.T1360S|NAV3_ENST00000228327.6_Missense_Mutation_p.T1360S|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1360	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T1360S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCAAGGATACTCCGAGCTA	0.572										HNSCC(70;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											110	106	107					12																	78516048		2024	4188	6212	77040179	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4078A>T	12.37:g.78516048A>T	ENSP00000381007:p.Thr1360Ser		77040179	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	A	13.05	2.119944	0.37436	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000550788	T;T;T;T	0.25414	1.81;1.83;1.8;2.34	5.96	5.96	0.96718	.	0.000000	0.41294	U	0.000916	T	0.41558	0.1164	L	0.45581	1.43	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.993	P;D;P	0.77557	0.867;0.99;0.775	T	0.13899	-1.0492	10	0.09084	T	0.74	-22.5856	16.4338	0.83864	1.0:0.0:0.0:0.0	.	1360;1360;1360	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	S	1360;1360;1360;3	ENSP00000446132:T1360S;ENSP00000381007:T1360S;ENSP00000228327:T1360S;ENSP00000448303:T3S	ENSP00000228327:T1360S	T	+	1	0	NAV3	77040179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.313000	0.78978	2.270000	0.75569	0.533000	0.62120	ACT		0.572	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78516048	A	T	78516048	3	4	295	1	0	0	0	0	1	0	0	0	10185	391	14	5	4140	5	NAV3	12	78516048	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	21984691	78516048	55335847	73	16225											
CDK17	5128	broad.mit.edu	37	12	96683034	96683034	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr12:96683034C>G	ENST00000261211.3	-	11	1632	c.1029G>C	c.(1027-1029)aaG>aaC	p.K343N	CDK17_ENST00000542666.1_Missense_Mutation_p.K290N|CDK17_ENST00000553042.1_5'Flank|CDK17_ENST00000543119.2_Missense_Mutation_p.K343N	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.K343N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TTGAGTAGGTCTTTGTGGGAA	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											209	178	188					12																	96683034		2203	4300	6503	95207165	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1029G>C	12.37:g.96683034C>G	ENSP00000261211:p.Lys343Asn		95207165	A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652147	0.67472	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.66099	-0.19;-0.19;-0.19	5.29	4.4	0.53042	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	0.67618	0.2912	L	0.33668	1.02	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68307	-0.5443	10	0.52906	T	0.07	-14.8119	10.4092	0.44282	0.0:0.8498:0.0:0.1502	.	343;343	A8K1U6;Q00537	.;CDK17_HUMAN	N	343;343;290	ENSP00000261211:K343N;ENSP00000444459:K343N;ENSP00000442926:K290N	ENSP00000261211:K343N	K	-	3	2	CDK17	95207165	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.872000	0.56085	1.361000	0.45981	-0.251000	0.11542	AAG		0.428	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		G	96683034	C	G	96683034	3	3	295	1	0	0	0	0	1	0	0	0	3133	912	32	3	608	3	CDK17	12	96683034	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	18166986	96683034	37168861	74	16226											
SBNO1	55206	broad.mit.edu	37	12	123795646	123795646	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr12:123795646A>G	ENST00000602398.1	-	25	3378	c.3251T>C	c.(3250-3252)cTg>cCg	p.L1084P	SBNO1_ENST00000602750.1_Missense_Mutation_p.L1083P|SBNO1_ENST00000267176.4_Missense_Mutation_p.L1083P|SBNO1_ENST00000420886.2_Missense_Mutation_p.L1084P			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1084					regulation of transcription, DNA-templated (GO:0006355)			p.L1083P(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TACATTTATCAGGCCAACGCC	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											123	113	116					12																	123795646		2203	4300	6503	122361599	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3251T>C	12.37:g.123795646A>G	ENSP00000473665:p.Leu1084Pro		122361599	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.389576	0.82902	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.41065	1.01;1.02	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	T	0.70727	0.3257	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.989;0.982;0.995	T	0.78018	-0.2368	10	0.72032	D	0.01	-8.0694	15.4536	0.75297	1.0:0.0:0.0:0.0	.	1084;1083;195	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	P	1084;1083	ENSP00000387361:L1084P;ENSP00000267176:L1083P	ENSP00000267176:L1083P	L	-	2	0	SBNO1	122361599	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	8.428000	0.90278	2.048000	0.60808	0.392000	0.25879	CTG		0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		G	123795646	A	G	123795646	3	3	295	1	0	0	0	0	1	0	0	0	13865	188	7	4	962	4	SBNO1	12	123795646	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	27112612	123795646	10056249	75	16227											
CENPJ	55835	broad.mit.edu	37	13	25486797	25486797	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr13:25486797T>A	ENST00000381884.4	-	2	552	c.367A>T	c.(367-369)Aat>Tat	p.N123Y	CENPJ_ENST00000545981.1_Missense_Mutation_p.N123Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	123					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.N123Y(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ATGAAGTCATTTTTGTTTTCT	0.423																																																1	Substitution - Missense(1)	ovary(1)	13											164	153	157					13																	25486797		2203	4300	6503	24384797	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.367A>T	13.37:g.25486797T>A	ENSP00000371308:p.Asn123Tyr		24384797	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441442	0.25900	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18657	2.2;2.2	5.69	4.51	0.55191	.	0.842434	0.10924	N	0.619158	T	0.24044	0.0582	M	0.70595	2.14	0.09310	N	1	P	0.41265	0.744	B	0.34038	0.174	T	0.14559	-1.0468	10	0.62326	D	0.03	.	10.7146	0.46005	0.0:0.0:0.175:0.825	.	123	Q9HC77	CENPJ_HUMAN	Y	123	ENSP00000371308:N123Y;ENSP00000441090:N123Y	ENSP00000371308:N123Y	N	-	1	0	CENPJ	24384797	0.998000	0.40836	0.095000	0.20976	0.003000	0.03518	1.390000	0.34464	0.976000	0.38417	-0.331000	0.08364	AAT		0.423	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		A	25486797	T	A	25486797	3	1	295	1	0	0	0	0	1	0	0	0	3234	1841	64	5	3713	5	CENPJ	13	25486797	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08		25486797	89683081	76	16228											
C13orf23	80209	broad.mit.edu	37	13	39600450	39600450	+	Silent	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr13:39600450G>C	ENST00000352251.3	-	6	1277	c.444C>G	c.(442-444)ccC>ccG	p.P148P	PROSER1_ENST00000350125.3_Silent_p.P126P|PROSER1_ENST00000484434.3_5'Flank	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	148								p.P148P(1)									GTCTTCCTTTGGGATATGGAT	0.403																																																1	Substitution - coding silent(1)	ovary(1)	13											134	140	138					13																	39600450		2203	4300	6503	38498450	SO:0001819	synonymous_variant	80209			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.444C>G	13.37:g.39600450G>C			38498450	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	CCDS9368.2																																																																																				0.403	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		C	39600450	G	C	39600450	2	2	295	1	0	0	0	0	0	0	0	1	1721	1335	47	3		3	C13orf23	13	39600450	Silent	SNP	G	TCGA-25-1326-01A-01W-0492-08	14113653	39600450	75569428	77	16229											
STK24	8428	broad.mit.edu	37	13	99115945	99115945	+	Splice_Site	SNP	G	G	C	rs201143273		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr13:99115945G>C	ENST00000376547.3	-	7	1110	c.965C>G	c.(964-966)gCg>gGg	p.A322G	STK24_ENST00000397517.2_Splice_Site_p.A310G|STK24_ENST00000539966.1_Splice_Site_p.A291G	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	322					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A322G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCCGACTTACGCGTCGGAATC	0.512																																																1	Substitution - Missense(1)	ovary(1)	13											92	80	84					13																	99115945		2203	4300	6503	97913946	SO:0001630	splice_region_variant	8428			AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"STE20-like kinase 3", "sterile 20-like kinase 3"	604984	"serine/threonine kinase 24 (Ste20, yeast homolog)"			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.965+1C>G	13.37:g.99115945G>C			97913946	O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	CCDS9488.1	.	.	.	.	.	.	.	.	.	.	G	3.830	-0.035921	0.07497	.	.	ENSG00000102572	ENST00000397517;ENST00000376554;ENST00000376547;ENST00000376541;ENST00000539966;ENST00000418038;ENST00000376533;ENST00000543110	T;T;T;T;T	0.72282	-0.6;3.8;-0.59;-0.64;1.53	5.09	3.33	0.38152	.	0.643479	0.14010	U	0.347529	T	0.42177	0.1191	N	0.05230	-0.09	0.22888	N	0.99861	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.20140	-1.0284	9	.	.	.	.	2.5962	0.04855	0.1635:0.1463:0.5396:0.1506	.	291;310;322	B4DR80;Q5U0E6;Q9Y6E0	.;.;STK24_HUMAN	G	310;111;322;125;291;32;298;310	ENSP00000380651:A310G;ENSP00000365737:A111G;ENSP00000365730:A322G;ENSP00000442539:A291G;ENSP00000402810:A32G	.	A	-	2	0	STK24	97913946	0.006000	0.16342	0.048000	0.18961	0.049000	0.14656	0.045000	0.14013	0.525000	0.28522	0.591000	0.81541	GCG		0.512	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576	Missense_Mutation	C	99115945	G	C	99115945	5	2	295	1	0	0	0	0	0	0	1	0	15295	1101	38	3	386	3	STK24	13	99115945	Splice_Site	SNP	G	TCGA-25-1326-01A-01W-0492-08	59515495	99115945	16053933	78	16230											
MDGA2	161357	broad.mit.edu	37	14	47342702	47342702	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr14:47342702G>T	ENST00000399232.2	-	14	2843	c.2479C>A	c.(2479-2481)Cct>Act	p.P827T	MDGA2_ENST00000399222.3_Missense_Mutation_p.P29T|MDGA2_ENST00000439988.3_Missense_Mutation_p.P896T|MDGA2_ENST00000426342.1_Missense_Mutation_p.P598T|MDGA2_ENST00000357362.3_Missense_Mutation_p.P598T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	827	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P598T(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGTCCATAAGGGTTTTTGGGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	14											164	158	160					14																	47342702		1855	4107	5962	46412452	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2479C>A	14.37:g.47342702G>T	ENSP00000382178:p.Pro827Thr		46412452	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.017368	0.75161	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.66815	-0.08;0.16;-0.23;2.99;0.16	5.37	4.48	0.54585	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.51477	U	0.000091	T	0.61173	0.2326	L	0.56769	1.78	0.80722	D	1	B;P	0.39352	0.029;0.669	B;B	0.34931	0.033;0.192	T	0.66677	-0.5863	10	0.87932	D	0	.	12.9946	0.58640	0.0791:0.0:0.9209:0.0	.	598;827	F6W3S7;Q7Z553	.;MDGA2_HUMAN	T	827;598;896;29;598	ENSP00000400011:P827T;ENSP00000405456:P598T;ENSP00000382178:P896T;ENSP00000382168:P29T;ENSP00000349925:P598T	ENSP00000349925:P598T	P	-	1	0	MDGA2	46412452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.582000	0.82546	1.396000	0.46663	0.467000	0.42956	CCT		0.383	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		T	47342702	G	T	47342702	3	4	295	1	0	0	0	0	1	0	0	0	9407	1232	43	3	407	3	MDGA2	14	47342702	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08		47342702	60006838	79	16231											
SYNE2	23224	broad.mit.edu	37	14	64542702	64542702	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr14:64542702G>C	ENST00000344113.4	+	54	11118	c.10906G>C	c.(10906-10908)Gag>Cag	p.E3636Q	SYNE2_ENST00000394768.2_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.E270Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3669Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3636Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3636					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E3636Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTAACTTTTGAGAATATTAT	0.373																																																1	Substitution - Missense(1)	ovary(1)	14											69	70	69					14																	64542702		2203	4300	6503	63612455	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10906G>C	14.37:g.64542702G>C	ENSP00000341781:p.Glu3636Gln		63612455	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206913	0.39003	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.59772	0.58;0.58;0.24;3.94	5.76	4.87	0.63330	.	0.273612	0.31872	N	0.006923	T	0.56124	0.1964	L	0.32530	0.975	0.80722	D	1	D;D;D	0.56746	0.961;0.961;0.977	P;P;P	0.53593	0.541;0.541;0.73	T	0.57499	-0.7801	10	0.49607	T	0.09	.	10.3138	0.43725	0.2055:0.0:0.7945:0.0	.	3670;3636;3636	D4YW74;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Q	3636;3636;3669;3669;270	ENSP00000350719:E3636Q;ENSP00000341781:E3636Q;ENSP00000452570:E3669Q;ENSP00000450831:E270Q	ENSP00000261678:E3669Q	E	+	1	0	SYNE2	63612455	0.963000	0.33076	0.893000	0.35052	0.968000	0.65278	1.637000	0.37155	1.574000	0.49760	0.655000	0.94253	GAG		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64542702	G	C	64542702	3	2	295	1	0	0	0	0	1	0	0	0	15446	1291	45	3	11116	3	SYNE2	14	64542702	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	17200000	64542702	42806838	80	16232											
CCNDBP1	23582	broad.mit.edu	37	15	43478058	43478058	+	Silent	SNP	G	G	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr15:43478058G>A	ENST00000300213.4	+	2	392	c.150G>A	c.(148-150)gaG>gaA	p.E50E	EPB42_ENST00000563128.1_Intron|RP11-473C18.3_ENST00000565685.1_RNA|CCNDBP1_ENST00000356633.5_De_novo_Start_OutOfFrame	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	50	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E50E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		TTAATCGAGAGATGTTCTGGA	0.622																																																1	Substitution - coding silent(1)	ovary(1)	15											39	42	41					15																	43478058		2203	4299	6502	41265350	SO:0001819	synonymous_variant	23582			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"D-type cyclin-interacting protein 1", "MAID protein", "HHM Protein", "grap2 cyclin interacting protein"	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.150G>A	15.37:g.43478058G>A			41265350	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	CCDS10092.1																																																																																				0.622	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142		A	43478058	G	A	43478058	2	1	295	1	0	0	0	0	0	0	0	1	2919	933	33	2		2	CCNDBP1	15	43478058	Silent	SNP	G	TCGA-25-1326-01A-01W-0492-08		43478058	59053334	81	16233											
FBN1	2200	broad.mit.edu	37	15	48818377	48818377	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr15:48818377C>G	ENST00000316623.5	-	9	1393	c.938G>C	c.(937-939)tGc>tCc	p.C313S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	313	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C313S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGACATTTGCAAAAGTAACT	0.403																																																1	Substitution - Missense(1)	ovary(1)	15											127	114	118					15																	48818377		2197	4296	6493	46605669	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.938G>C	15.37:g.48818377C>G	ENSP00000325527:p.Cys313Ser		46605669	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067182	0.76301	.	.	ENSG00000166147	ENST00000316623	D	0.99264	-5.65	5.63	5.63	0.86233	EGF-like calcium-binding, conserved site (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	H	0.98833	4.345	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.97160	0.9837	10	0.87932	D	0	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	313	P35555	FBN1_HUMAN	S	313	ENSP00000325527:C313S	ENSP00000325527:C313S	C	-	2	0	FBN1	46605669	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.814000	0.96858	0.655000	0.94253	TGC		0.403	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			G	48818377	C	G	48818377	3	3	295	1	0	0	0	0	1	0	0	0	5702	710	25	3	7909	3	FBN1	15	48818377	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	5340319	48818377	53713015	82	16234											
MYO5C	55930	broad.mit.edu	37	15	52517286	52517286	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr15:52517286T>G	ENST00000261839.7	-	27	3512	c.3351A>C	c.(3349-3351)gaA>gaC	p.E1117D		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1117						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1117D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCTTACATCTTCAATGTCAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	15											139	122	127					15																	52517286		1849	4094	5943	50304578	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3351A>C	15.37:g.52517286T>G	ENSP00000261839:p.Glu1117Asp		50304578	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.597012	0.46318	.	.	ENSG00000128833	ENST00000261839	T	0.17370	2.28	5.89	3.62	0.41486	.	0.185758	0.44688	D	0.000427	T	0.10252	0.0251	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.15809	-1.0424	10	0.23891	T	0.37	.	8.1059	0.30885	0.0:0.214:0.0:0.786	.	1117	Q9NQX4	MYO5C_HUMAN	D	1117	ENSP00000261839:E1117D	ENSP00000261839:E1117D	E	-	3	2	MYO5C	50304578	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.418000	0.34782	1.057000	0.40506	0.533000	0.62120	GAA		0.318	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		G	52517286	T	G	52517286	3	3	295	1	0	0	0	0	1	0	0	0	10080	1606	56	5	1937	5	MYO5C	15	52517286	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	3698909	52517286	50014106	83	16235											
ARIH1	25820	broad.mit.edu	37	15	72847705	72847705	+	Splice_Site	SNP	G	G	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr15:72847705G>A	ENST00000379887.4	+	4	995		c.e4+1			NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1						cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CATGGGTCAGGTAAAGATATC	0.348																																																0			15											109	106	107					15																	72847705		2198	4297	6495	70634759	SO:0001630	splice_region_variant	25820			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.681+1G>A	15.37:g.72847705G>A			70634759	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Splice_Site	SNP	ENST00000379887.4	37	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337038	0.60963	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6838	0.91557	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARIH1	70634759	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	9.291000	0.96070	2.582000	0.87167	0.460000	0.39030	.		0.348	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744	Intron	A	72847705	G	A	72847705	5	1	295	1	0	0	0	0	0	0	1	0	923	1275	44	2	696	2	ARIH1	15	72847705	Splice_Site	SNP	G	TCGA-25-1326-01A-01W-0492-08	20330419	72847705	29683687	84	16236											
SRCAP	10847	broad.mit.edu	37	16	30731635	30731635	+	Silent	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr16:30731635C>G	ENST00000262518.4	+	19	3355	c.2970C>G	c.(2968-2970)gtC>gtG	p.V990V	SRCAP_ENST00000395059.2_Silent_p.V990V|SRCAP_ENST00000344771.4_Silent_p.V990V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	990	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.V990V(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAAGCCAGTCAAGATGAAGG	0.572																																																1	Substitution - coding silent(1)	ovary(1)	16											94	103	100					16																	30731635		2197	4300	6497	30639136	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2970C>G	16.37:g.30731635C>G			30639136	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30731635	C	G	30731635	2	3	295	1	0	0	0	0	0	0	0	1	15137	813	29	3		3	SRCAP	16	30731635	Silent	SNP	C	TCGA-25-1326-01A-01W-0492-08		30731635	59623118	85	16237											
ZNF232	7775	broad.mit.edu	37	17	5009793	5009793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr17:5009793C>A	ENST00000250076.3	-	5	1315	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Nonsense_Mutation_p.E212*	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	194					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.E221*(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GGGCCATCTTCTGTAACAACT	0.383																																																1	Substitution - Nonsense(1)	ovary(1)	17											72	69	70					17																	5009793		2203	4300	6503	4950517	SO:0001587	stop_gained	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.661G>T	17.37:g.5009793C>A	ENSP00000250076:p.Glu221*		4950517		Nonsense_Mutation	SNP	ENST00000250076.3	37	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449070	0.63178	.	.	ENSG00000167840	ENST00000250076	.	.	.	2.79	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	9.2565	0.37586	0.0:1.0:0.0:0.0	.	.	.	.	X	221	.	ENSP00000250076:E221X	E	-	1	0	ZNF232	4950517	0.010000	0.17322	0.684000	0.30055	0.963000	0.63663	0.756000	0.26419	1.857000	0.53885	0.655000	0.94253	GAA		0.383	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		A	5009793	C	A	5009793	4	1	295	1	0	0	0	0	0	1	0	0	17785	922	32	3	677	3	ZNF232	17	5009793	Nonsense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		5009793	76185417	86	16238											
C17orf87	388325	broad.mit.edu	37	17	5114168	5114168	+	Silent	SNP	T	T	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr17:5114168T>G	ENST00000574081.1	-	5	470	c.366A>C	c.(364-366)ccA>ccC	p.P122P	RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000399600.4_Silent_p.P115P|RP11-333E1.1_ENST00000571689.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	122	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)		p.P122P(1)									CAATGTAGCTTGGGATGGAAA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	17											147	137	140					17																	5114168		1853	4102	5955	5054892	SO:0001819	synonymous_variant	388325			AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"SLP65/SLP76, Csk-interacting membrane protein"	614406	"chromosome 17 open reading frame 87"	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.366A>C	17.37:g.5114168T>G			5054892	A6XGL4|B4DLK1|Q96MD0	Silent	SNP	ENST00000574081.1	37	CCDS42242.1																																																																																				0.408	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		G	5114168	T	G	5114168	2	3	295	1	0	0	0	0	0	0	0	1	1889	1799	63	5		5	C17orf87	17	5114168	Silent	SNP	T	TCGA-25-1326-01A-01W-0492-08	104375	5114168	76081042	87	16239											
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr17:7577082C>T	ENST00000269305.4	-	8	1045	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E286K|TP53_ENST00000445888.2_Missense_Mutation_p.E286K	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	AGATTCTCTTCCTCTGTGCGC	0.557		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"	112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	17	GRCh37	CM076567	TP53	M							95	81	86					17																	7577082		2203	4300	6503	7517807	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.856G>A	17.37:g.7577082C>T	ENSP00000269305:p.Glu286Lys		7517807	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310731	0.81358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.99	4.99	0.66335	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	0.99883	0.9944	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.983;0.985;0.982;0.99	D	0.96355	0.9261	10	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	286;286;286;286;286;275;154	ENSP00000352610:E286K;ENSP00000269305:E286K;ENSP00000398846:E286K;ENSP00000391127:E286K;ENSP00000391478:E286K;ENSP00000425104:E154K	ENSP00000269305:E286K	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577082	C	T	7577082	3	4	295	1	0	0	0	0	1	0	0	0	16381	864	30	2	430	2	TP53	17	7577082	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	2462914	7577082	73618128	88	16240											
EVI2B	2124	broad.mit.edu	37	17	29632179	29632179	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr17:29632179G>A	ENST00000330927.4	-	2	603	c.449C>T	c.(448-450)tCa>tTa	p.S150L	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S165L|EVI2B_ENST00000577894.1_Missense_Mutation_p.S150L	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	150						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)|p.S150L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GACAGATGATGATTGTTGAGT	0.428																																																12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17											325	284	298					17																	29632179		2203	4300	6503	26656305	SO:0001583	missense	2124				CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.449C>T	17.37:g.29632179G>A	ENSP00000333779:p.Ser150Leu		26656305	B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832575	0.50845	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.50001	0.77;0.76	5.55	4.58	0.56647	.	0.464481	0.17830	N	0.160572	T	0.34164	0.0888	N	0.22421	0.69	0.30102	N	0.80733	B;B	0.17268	0.021;0.021	B;B	0.13407	0.009;0.009	T	0.34104	-0.9842	10	0.72032	D	0.01	-0.0231	10.3006	0.43650	0.0911:0.0:0.9089:0.0	.	165;150	B7Z4A7;P34910	.;EVI2B_HUMAN	L	150;165	ENSP00000333779:S150L;ENSP00000439738:S165L	ENSP00000333779:S150L	S	-	2	0	EVI2B	26656305	0.000000	0.05858	0.659000	0.29680	0.157000	0.22087	0.167000	0.16602	1.343000	0.45638	0.561000	0.74099	TCA		0.428	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		A	29632179	G	A	29632179	3	1	295	1	0	0	0	0	1	0	0	0	5288	1294	45	2	901	2	EVI2B	17	29632179	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	22055097	29632179	51563031	89	16241											
KRT28	162605	broad.mit.edu	37	17	38950147	38950147	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr17:38950147A>G	ENST00000306658.7	-	6	1195	c.1130T>C	c.(1129-1131)cTc>cCc	p.L377P		NM_181535.3	NP_853513.2			keratin 28									p.L377P(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTTGACATCGAGGAGATGCTC	0.522																																					Melanoma(19;789 869 15380 26882 39836)											1	Substitution - Missense(1)	ovary(1)	17											155	149	151					17																	38950147		2203	4300	6503	36203673	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1130T>C	17.37:g.38950147A>G	ENSP00000305263:p.Leu377Pro		36203673		Missense_Mutation	SNP	ENST00000306658.7	37	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836607	0.50951	.	.	ENSG00000173908	ENST00000306658	D	0.93488	-3.23	5.7	5.7	0.88788	Filament (1);	0.000000	0.47852	D	0.000208	D	0.98140	0.9386	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	.	15.4391	0.75168	1.0:0.0:0.0:0.0	.	377	Q7Z3Y7	K1C28_HUMAN	P	377	ENSP00000305263:L377P	ENSP00000305263:L377P	L	-	2	0	KRT28	36203673	1.000000	0.71417	0.152000	0.22495	0.008000	0.06430	9.336000	0.96533	2.295000	0.77249	0.528000	0.53228	CTC		0.522	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		G	38950147	A	G	38950147	3	3	295	1	0	0	0	0	1	0	0	0	8465	304	11	4	276	4	KRT28	17	38950147	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	9317968	38950147	42245063	90	16242											
DNAJC7	7266	broad.mit.edu	37	17	40141523	40141523	+	Missense_Mutation	SNP	G	G	C	rs200650446		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr17:40141523G>C	ENST00000457167.4	-	7	888	c.652C>G	c.(652-654)Ctt>Gtt	p.L218V	DNAJC7_ENST00000316603.7_Missense_Mutation_p.L162V|DNAJC7_ENST00000426588.3_Missense_Mutation_p.L162V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	218					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.L208V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TAAAGGCAAAGACCTCGTACA	0.468																																					Colon(63;618 1117 8600 10857 19751)											1	Substitution - Missense(1)	ovary(1)	17											190	180	183					17																	40141523		1949	4151	6100	37395049	SO:0001583	missense	7266			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.652C>G	17.37:g.40141523G>C	ENSP00000406463:p.Leu218Val		37395049	Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023988	0.75390	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.64260	-0.09;-0.09;-0.09	5.42	4.45	0.53987	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.79123	2.44	0.58432	D	0.999997	D;D;D	0.65815	0.985;0.995;0.995	D;D;D	0.70227	0.953;0.968;0.968	T	0.79179	-0.1910	10	0.51188	T	0.08	-3.6159	14.4311	0.67251	0.072:0.0:0.928:0.0	.	207;162;218	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	V	218;162;162	ENSP00000406463:L218V;ENSP00000394327:L162V;ENSP00000313311:L162V	ENSP00000313311:L162V	L	-	1	0	DNAJC7	37395049	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.103000	0.64578	2.561000	0.86390	0.462000	0.41574	CTT		0.468	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			C	40141523	G	C	40141523	3	2	295	1	0	0	0	0	1	0	0	0	4654	942	33	3	864	3	DNAJC7	17	40141523	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	1191376	40141523	41053687	91	16243											
ABCA5	23461	broad.mit.edu	37	17	67266804	67266804	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr17:67266804G>T	ENST00000392676.3	-	22	3044	c.2980C>A	c.(2980-2982)Cat>Aat	p.H994N	ABCA5_ENST00000392677.2_Missense_Mutation_p.H995N|ABCA5_ENST00000588877.1_Missense_Mutation_p.H994N			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	994					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H994N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ACATTTAAATGATAAAGATAG	0.294																																																1	Substitution - Missense(1)	ovary(1)	17											106	120	115					17																	67266804		2203	4271	6474	64778399	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2980C>A	17.37:g.67266804G>T	ENSP00000376443:p.His994Asn		64778399	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571155	0.28003	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.82619	-1.63;-1.63	5.45	3.4	0.38934	.	0.639543	0.15332	N	0.267971	T	0.79981	0.4540	L	0.57536	1.79	0.23657	N	0.997186	B	0.21821	0.061	B	0.24974	0.057	T	0.65631	-0.6121	9	.	.	.	.	12.9233	0.58245	0.0:0.0:0.5786:0.4213	.	994	Q8WWZ7	ABCA5_HUMAN	N	995;994	ENSP00000376444:H995N;ENSP00000376443:H994N	.	H	-	1	0	ABCA5	64778399	0.906000	0.30813	0.999000	0.59377	0.995000	0.86356	0.584000	0.23864	0.620000	0.30215	0.591000	0.81541	CAT		0.294	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		T	67266804	G	T	67266804	3	4	295	1	0	0	0	0	1	0	0	0	35	1290	45	3	2020	3	ABCA5	17	67266804	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	27125281	67266804	13928406	92	16244											
TRIM47	91107	broad.mit.edu	37	17	73872052	73872052	+	Silent	SNP	G	G	A			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr17:73872052G>A	ENST00000254816.2	-	4	1157	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C	TRIM47_ENST00000587339.1_Silent_p.C139C|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	377						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C377C(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGTTGACGCAGGCCACGG	0.672																																																1	Substitution - coding silent(1)	ovary(1)	17											55	51	52					17																	73872052		2203	4300	6503	71383647	SO:0001819	synonymous_variant	91107			AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19020	protein-coding gene	gene with protein product		611041	"tripartite motif-containing 47"				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1131C>T	17.37:g.73872052G>A			71383647	Q96AD0|Q96GU5|Q9BRN7	Silent	SNP	ENST00000254816.2	37	CCDS32737.1																																																																																				0.672	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			A	73872052	G	A	73872052	2	1	295	1	0	0	0	0	0	0	0	1	16522	1079	38	1		1	TRIM47	17	73872052	Silent	SNP	G	TCGA-25-1326-01A-01W-0492-08	6605248	73872052	7323158	93	16245											
MYOM1	8736	broad.mit.edu	37	18	3126832	3126832	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr18:3126832C>T	ENST00000356443.4	-	19	3191	c.2858G>A	c.(2857-2859)gGa>gAa	p.G953E	MYOM1_ENST00000261606.7_Missense_Mutation_p.G857E|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Missense_Mutation_p.G953E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	953	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.G953E(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGCTTCCATCCAAGAACCAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	18											83	74	77					18																	3126832		1931	4146	6077	3116832	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2858G>A	18.37:g.3126832C>T	ENSP00000348821:p.Gly953Glu		3116832	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659743	0.29515	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.55052	0.54;0.54;0.54	5.46	3.63	0.41609	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.106126	0.64402	D	0.000006	T	0.38214	0.1032	L	0.31664	0.95	0.42869	D	0.994131	P;B	0.41131	0.739;0.091	B;B	0.40901	0.343;0.139	T	0.08146	-1.0736	10	0.12430	T	0.62	.	11.0062	0.47635	0.0:0.7998:0.1298:0.0705	.	857;953	P52179-2;P52179	.;MYOM1_HUMAN	E	953;953;857	ENSP00000348821:G953E;ENSP00000383413:G953E;ENSP00000261606:G857E	ENSP00000261606:G857E	G	-	2	0	MYOM1	3116832	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.936000	0.56568	0.637000	0.30526	0.655000	0.94253	GGA		0.448	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		T	3126832	C	T	3126832	3	4	295	1	0	0	0	0	1	0	0	0	10091	855	30	2	2279	2	MYOM1	18	3126832	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		3126832	74950416	94	16246											
ST8SIA5	29906	broad.mit.edu	37	18	44268806	44268806	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr18:44268806G>T	ENST00000315087.7	-	4	1048	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.L166I|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.L99I|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	130					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.L130I(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TCATACTTGAGCTTTGTCCCC	0.597																																																1	Substitution - Missense(1)	ovary(1)	18											167	142	151					18																	44268806		2203	4300	6503	42522804	SO:0001583	missense	29906			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.388C>A	18.37:g.44268806G>T	ENSP00000321343:p.Leu130Ile		42522804	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421927	0.62622	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.31247	1.5;1.5;1.5	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.36672	1.1	0.80722	D	1	D;B;D	0.89917	0.999;0.379;1.0	D;P;D	0.91635	0.997;0.549;0.999	T	0.10941	-1.0608	10	0.09843	T	0.71	-8.5351	19.5805	0.95465	0.0:0.0:1.0:0.0	.	99;166;130	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	I	130;166;99	ENSP00000321343:L130I;ENSP00000445492:L166I;ENSP00000443683:L99I	ENSP00000321343:L130I	L	-	1	0	ST8SIA5	42522804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.317000	0.72862	2.629000	0.89072	0.561000	0.74099	CTC		0.597	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		T	44268806	G	T	44268806	3	4	295	1	0	0	0	0	1	0	0	0	15237	971	34	3	758	3	ST8SIA5	18	44268806	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	41141974	44268806	33808442	95	16247											
MALT1	10892	broad.mit.edu	37	18	56390338	56390338	+	Silent	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr18:56390338C>T	ENST00000348428.3	+	10	1335	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	MALT1_ENST00000345724.3_Silent_p.L348L|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	359	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.L348L(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ACCCCAAGCTCAAAGCTCCTT	0.403			T	BIRC3	MALT																																		Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	1	Substitution - coding silent(1)	ovary(1)	18											133	126	128					18																	56390338		2203	4300	6503	54541318	SO:0001819	synonymous_variant	10892				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1077C>T	18.37:g.56390338C>T			54541318	Q9NTB7|Q9ULX4	Silent	SNP	ENST00000348428.3	37	CCDS11967.1																																																																																				0.403	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			T	56390338	C	T	56390338	2	4	295	1	0	0	0	0	0	0	0	1	9202	813	29	2		2	MALT1	18	56390338	Silent	SNP	C	TCGA-25-1326-01A-01W-0492-08	12121532	56390338	21686910	96	16248											
ADNP2	22850	broad.mit.edu	37	18	77896601	77896601	+	Missense_Mutation	SNP	T	T	C	rs11553022		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr18:77896601T>C	ENST00000262198.4	+	4	3760	c.3305T>C	c.(3304-3306)aTa>aCa	p.I1102T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1102					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I1102T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATGAAAGCAATAAAAAATCAC	0.313																																																1	Substitution - Missense(1)	ovary(1)	18											36	39	38					18																	77896601		2180	4285	6465	75997592	SO:0001583	missense	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3305T>C	18.37:g.77896601T>C	ENSP00000262198:p.Ile1102Thr		75997592	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682038	0.47991	.	.	ENSG00000101544	ENST00000262198	D	0.91577	-2.87	4.43	4.43	0.53597	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.078755	0.52532	D	0.000062	D	0.93080	0.7797	L	0.59436	1.845	0.41585	D	0.988769	D	0.76494	0.999	D	0.64776	0.929	D	0.92862	0.6306	9	.	.	.	-25.6408	13.8693	0.63608	0.0:0.0:0.0:1.0	.	1102	Q6IQ32	ADNP2_HUMAN	T	1102	ENSP00000262198:I1102T	.	I	+	2	0	ADNP2	75997592	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.490000	0.45294	1.873000	0.54277	0.459000	0.35465	ATA		0.313	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		C	77896601	T	C	77896601	3	2	295	1	0	0	0	0	1	0	0	0	324	1406	49	4	3315	4	ADNP2	18	77896601	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	21506263	77896601	180647	97	16249											
BEST2	54831	broad.mit.edu	37	19	12866268	12866268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr19:12866268C>T	ENST00000549706.1	+	6	1036	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	BEST2_ENST00000553030.1_Nonsense_Mutation_p.Q238*|BEST2_ENST00000042931.1_Nonsense_Mutation_p.Q238*			Q8NFU1	BEST2_HUMAN	bestrophin 2	238					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.Q238*(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CGTGTACACGCAGGTAACCCC	0.498																																																1	Substitution - Nonsense(1)	ovary(1)	19											135	131	132					19																	12866268		1994	4176	6170	12727268	SO:0001587	stop_gained	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.712C>T	19.37:g.12866268C>T	ENSP00000448310:p.Gln238*		12727268	Q53YQ8|Q9NXP0	Nonsense_Mutation	SNP	ENST00000549706.1	37	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	C	39	7.302286	0.98196	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	.	.	.	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5097	15.6627	0.77199	0.0:1.0:0.0:0.0	.	.	.	.	X	238	.	ENSP00000042931:Q238X	Q	+	1	0	BEST2	12727268	1.000000	0.71417	0.998000	0.56505	0.712000	0.41017	7.458000	0.80787	2.283000	0.76528	0.544000	0.68410	CAG		0.498	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		T	12866268	C	T	12866268	4	4	295	1	0	0	0	0	0	1	0	0	1405	711	25	2	730	2	BEST2	19	12866268	Nonsense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08		12866268	46262715	98	16250											
ZNF14	7561	broad.mit.edu	37	19	19824901	19824901	+	Splice_Site	SNP	T	T	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr19:19824901T>G	ENST00000344099.3	-	3	328	c.190A>C	c.(190-192)Aga>Cga	p.R64R		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.R64R(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GCAACTCACCTTCGATTTTTC	0.373																																																1	Substitution - coding silent(1)	ovary(1)	19											107	100	102					19																	19824901		2203	4300	6503	19685901	SO:0001630	splice_region_variant	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.191+1A>C	19.37:g.19824901T>G			19685901	B9EGA4|Q9ULZ5	Silent	SNP	ENST00000344099.3	37	CCDS12409.1																																																																																				0.373	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030	Silent	G	19824901	T	G	19824901	5	3	295	1	0	0	0	0	0	0	1	0	17728	1623	56	5	1746	5	ZNF14	19	19824901	Splice_Site	SNP	T	TCGA-25-1326-01A-01W-0492-08	6958633	19824901	39304082	99	16251											
PRKD2	25865	broad.mit.edu	37	19	47184991	47184991	+	Missense_Mutation	SNP	C	C	G	rs117052447	byFrequency	TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr19:47184991C>G	ENST00000291281.4	-	15	2211	c.1986G>C	c.(1984-1986)ttG>ttC	p.L662F	PRKD2_ENST00000600194.1_Missense_Mutation_p.L505F|PRKD2_ENST00000433867.1_Missense_Mutation_p.L662F|PRKD2_ENST00000593492.1_5'UTR|PRKD2_ENST00000601806.1_Missense_Mutation_p.L505F|PRKD2_ENST00000595515.1_Missense_Mutation_p.L662F			Q9BZL6	KPCD2_HUMAN	protein kinase D2	662	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.L662F(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAAGGTGTCTCAAAGCCACCA	0.512																																																1	Substitution - Missense(1)	ovary(1)	19											87	79	82					19																	47184991		2203	4300	6503	51876831	SO:0001583	missense	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1986G>C	19.37:g.47184991C>G	ENSP00000291281:p.Leu662Phe		51876831	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973132	0.74246	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.90788	-2.73;-2.73	4.58	4.58	0.56647	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	0.50627	D	0.000110	D	0.95617	0.8575	M	0.84511	2.7	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.96398	0.9294	10	0.87932	D	0	-24.8904	16.5455	0.84444	0.0:1.0:0.0:0.0	.	662;147;662	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	F	662	ENSP00000291281:L662F;ENSP00000393978:L662F	ENSP00000291281:L662F	L	-	3	2	PRKD2	51876831	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	1.948000	0.40303	2.277000	0.76020	0.555000	0.69702	TTG		0.512	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		G	47184991	C	G	47184991	3	3	295	1	0	0	0	0	1	0	0	0	12522	825	29	3	666	3	PRKD2	19	47184991	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	27360090	47184991	11943992	100	16252											
DHX34	9704	broad.mit.edu	37	19	47856734	47856734	+	Missense_Mutation	SNP	T	T	G	rs570955855		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr19:47856734T>G	ENST00000328771.4	+	2	796	c.447T>G	c.(445-447)ttT>ttG	p.F149L		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	149					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.F149L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGGCATTTGGGCGTCTGG	0.652																																																1	Substitution - Missense(1)	ovary(1)	19											53	52	52					19																	47856734		2203	4300	6503	52548574	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.447T>G	19.37:g.47856734T>G	ENSP00000331907:p.Phe149Leu		52548574	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469597	0.26423	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.09911	2.93	5.69	-7.76	0.01232	DEAD-like helicase (1);	0.129157	0.35525	N	0.003157	T	0.05960	0.0155	L	0.33485	1.01	0.30083	N	0.809042	P;B	0.43519	0.809;0.075	B;B	0.37943	0.261;0.025	T	0.05209	-1.0899	10	0.25751	T	0.34	.	13.556	0.61759	0.0:0.578:0.0952:0.3268	.	149;149	Q14147;B4E3G3	DHX34_HUMAN;.	L	149	ENSP00000331907:F149L	ENSP00000257252:F149L	F	+	3	2	DHX34	52548574	0.000000	0.05858	0.046000	0.18839	0.297000	0.27493	-1.005000	0.03674	-1.650000	0.01506	-0.451000	0.05528	TTT		0.652	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		G	47856734	T	G	47856734	3	3	295	1	0	0	0	0	1	0	0	0	4507	1809	63	5	449	5	DHX34	19	47856734	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	671743	47856734	11272249	101	16253											
PLCB4	5332	broad.mit.edu	37	20	9440287	9440287	+	Silent	SNP	A	A	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr20:9440287A>G	ENST00000378493.1	+	31	3057	c.3042A>G	c.(3040-3042)aaA>aaG	p.K1014K	PLCB4_ENST00000378501.2_Silent_p.K1014K|PLCB4_ENST00000334005.3_Silent_p.K1014K|PLCB4_ENST00000278655.4_Silent_p.K1014K|PLCB4_ENST00000414679.2_Silent_p.K1026K|PLCB4_ENST00000378473.3_Silent_p.K1026K|PLCB4_ENST00000492632.1_Intron			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1014					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.K1014K(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AACAGGTCAAAGAGATTGTAG	0.473																																																1	Substitution - coding silent(1)	ovary(1)	20											64	55	58					20																	9440287		2203	4300	6503	9388287	SO:0001819	synonymous_variant	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3042A>G	20.37:g.9440287A>G			9388287	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	CCDS13105.1																																																																																				0.473	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			G	9440287	A	G	9440287	2	3	295	1	0	0	0	0	0	0	0	1	12030	69	3	4		4	PLCB4	20	9440287	Silent	SNP	A	TCGA-25-1326-01A-01W-0492-08		9440287	53585233	102	16254											
KIAA1755	85449	broad.mit.edu	37	20	36870196	36870196	+	Missense_Mutation	SNP	C	C	T	rs561742884		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr20:36870196C>T	ENST00000279024.4	-	3	608	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	113								p.E113K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GACTGCTCCTCCTGGGGCTCC	0.552													C|||	1	0.000199681	0	0.0014	5008	,	,		19452	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	20											90	88	89					20																	36870196		2203	4300	6503	36303610	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.337G>A	20.37:g.36870196C>T	ENSP00000279024:p.Glu113Lys		36303610	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522837	0.64747	.	.	ENSG00000149633	ENST00000279024	T	0.06068	3.35	5.71	3.62	0.41486	.	0.123818	0.36444	N	0.002585	T	0.09774	0.0240	L	0.60455	1.87	0.09310	N	1	P	0.48407	0.91	P	0.45099	0.469	T	0.11299	-1.0593	10	0.42905	T	0.14	.	11.116	0.48259	0.1259:0.5149:0.3593:0.0	.	113	Q5JYT7	K1755_HUMAN	K	113	ENSP00000279024:E113K	ENSP00000279024:E113K	E	-	1	0	KIAA1755	36303610	0.510000	0.26171	0.996000	0.52242	0.964000	0.63967	1.228000	0.32588	1.364000	0.46038	0.561000	0.74099	GAG		0.552	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36870196	C	T	36870196	3	4	295	1	0	0	0	0	1	0	0	0	8257	864	30	2	3313	2	KIAA1755	20	36870196	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	27429909	36870196	26155324	103	16255											
PIWIL3	440822	broad.mit.edu	37	22	25115513	25115513	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr22:25115513G>C	ENST00000332271.5	-	21	2991	c.2575C>G	c.(2575-2577)Ctg>Gtg	p.L859V	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.L741V|PIWIL3_ENST00000533313.1_Missense_Mutation_p.L741V	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	859	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.L859V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGTAAGCCAGCTTGTGGGCA	0.458																																																1	Substitution - Missense(1)	ovary(1)	22											121	110	114					22																	25115513		2203	4300	6503	23445513	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2575C>G	22.37:g.25115513G>C	ENSP00000330031:p.Leu859Val		23445513		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907280	0.33628	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.18810	2.19;2.19;2.19	3.14	3.14	0.36123	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.56097	D	0.000031	T	0.35537	0.0935	M	0.63843	1.955	0.51767	D	0.999934	D;P;D	0.89917	1.0;0.944;1.0	D;D;D	0.91635	0.999;0.928;0.999	T	0.05801	-1.0863	10	0.30078	T	0.28	-13.9851	6.3275	0.21253	0.1346:0.0:0.8654:0.0	.	741;850;859	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	V	859;741;741	ENSP00000330031:L859V;ENSP00000431843:L741V;ENSP00000435718:L741V	ENSP00000330031:L859V	L	-	1	2	PIWIL3	23445513	1.000000	0.71417	0.997000	0.53966	0.067000	0.16453	1.734000	0.38166	2.082000	0.62665	0.555000	0.69702	CTG		0.458	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		C	25115513	G	C	25115513	3	2	295	1	0	0	0	0	1	0	0	0	11959	962	34	3	77	3	PIWIL3	22	25115513	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08		25115513	26189053	104	16256											
LIMK2	3985	broad.mit.edu	37	22	31662052	31662052	+	Missense_Mutation	SNP	C	C	G	rs115056007		TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr22:31662052C>G	ENST00000331728.4	+	8	1089	c.975C>G	c.(973-975)atC>atG	p.I325M	LIMK2_ENST00000406516.1_Missense_Mutation_p.I247M|LIMK2_ENST00000340552.4_Missense_Mutation_p.I304M|LIMK2_ENST00000333611.4_Missense_Mutation_p.I304M|LIMK2_ENST00000444929.2_Missense_Mutation_p.I79M	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	325					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.I325M(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CACAGCAGATCTTCCGGCCCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	22											96	93	94					22																	31662052		2203	4300	6503	29992052	SO:0001583	missense	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.975C>G	22.37:g.31662052C>G	ENSP00000332687:p.Ile325Met		29992052	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756504	0.69648	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	4.97	2.62	0.31277	Protein kinase-like domain (1);	0.096917	0.64402	D	0.000001	D	0.93141	0.7816	M	0.78637	2.42	0.49130	D	0.999752	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.998	D;D;D;D;D	0.79784	0.993;0.976;0.985;0.977;0.991	D	0.92367	0.5902	10	0.87932	D	0	-29.1955	10.5525	0.45097	0.0:0.8291:0.0:0.1709	.	357;304;79;325;247	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	M	247;79;325;357;304;304	ENSP00000384602:I247M;ENSP00000409522:I79M;ENSP00000332687:I325M;ENSP00000330470:I304M;ENSP00000339916:I304M	ENSP00000332687:I325M	I	+	3	3	LIMK2	29992052	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.358000	0.34102	0.488000	0.27723	0.467000	0.42956	ATC		0.582	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		G	31662052	C	G	31662052	3	3	295	1	0	0	0	0	1	0	0	0	8802	903	32	3	1062	3	LIMK2	22	31662052	Missense_Mutation	SNP	C	TCGA-25-1326-01A-01W-0492-08	6546539	31662052	19642514	105	16257											
MKL1	57591	broad.mit.edu	37	22	40827433	40827433	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chr22:40827433G>C	ENST00000355630.3	-	6	705	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	MKL1_ENST00000396617.3_Missense_Mutation_p.L39V|MKL1_ENST00000407029.1_Missense_Mutation_p.L39V|MKL1_ENST00000402042.1_Missense_Mutation_p.L39V|MKL1_ENST00000402630.1_Missense_Mutation_p.L39V	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	39	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L39V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ATCCTGACCAGCTCCGATCTC	0.468			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	1	Substitution - Missense(1)	ovary(1)	22											296	264	275					22																	40827433		2203	4300	6503	39157379	SO:0001583	missense	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.115C>G	22.37:g.40827433G>C	ENSP00000347847:p.Leu39Val		39157379	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446039	0.84101	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630;ENST00000422851	D;D;D;D;D;D	0.99839	-7.07;-7.07;-7.07;-7.07;-7.07;-7.07	4.4	4.4	0.53042	.	0.000000	0.64402	D	0.000006	D	0.99750	0.9900	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.994;0.994	D	0.96868	0.9637	10	0.87932	D	0	-18.5245	12.0667	0.53592	0.0832:0.0:0.9167:0.0	.	39;39;39	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	V	39;39;39;39;39;66	ENSP00000347847:L39V;ENSP00000379861:L39V;ENSP00000385584:L39V;ENSP00000385835:L39V;ENSP00000385076:L39V;ENSP00000398478:L66V	ENSP00000347847:L39V	L	-	1	2	MKL1	39157379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.051000	0.57412	2.456000	0.83038	0.650000	0.86243	CTG		0.468	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		C	40827433	G	C	40827433	3	2	295	1	0	0	0	0	1	0	0	0	9601	962	34	3	2720	3	MKL1	22	40827433	Missense_Mutation	SNP	G	TCGA-25-1326-01A-01W-0492-08	9165381	40827433	10477133	106	16258											
WWC3	55841	broad.mit.edu	37	X	10085308	10085308	+	Silent	SNP	C	C	G			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chrX:10085308C>G	ENST00000380861.4	+	11	1600	c.1209C>G	c.(1207-1209)ccC>ccG	p.P403P	WWC3_ENST00000454666.1_Silent_p.P403P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	403	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.P403P(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACGAGAAGCCCGACGCTGAGG	0.662																																																1	Substitution - coding silent(1)	ovary(1)	X											69	68	68					X																	10085308		2203	4300	6503	10045308	SO:0001819	synonymous_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1209C>G	X.37:g.10085308C>G			10045308	A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1																																																																																				0.662	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		G	10085308	C	G	10085308	2	3	295	1	0	0	0	0	0	0	0	1	17413	639	23	3		3	WWC3	23	10085308	Silent	SNP	C	TCGA-25-1326-01A-01W-0492-08		10085308	145185252	107	16259											
HDX	139324	broad.mit.edu	37	X	83724007	83724007	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chrX:83724007T>C	ENST00000297977.5	-	3	835	c.724A>G	c.(724-726)Aac>Gac	p.N242D	HDX_ENST00000373177.2_Missense_Mutation_p.N242D|HDX_ENST00000506585.2_Missense_Mutation_p.N184D	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	242						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N242D(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCACATAAGTTATGTAATGCT	0.433																																					Pancreas(53;231 1169 36156 43751 51139)											1	Substitution - Missense(1)	ovary(1)	X											109	97	101					X																	83724007		2203	4300	6503	83610663	SO:0001583	missense	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.724A>G	X.37:g.83724007T>C	ENSP00000297977:p.Asn242Asp		83610663	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	T	2.082	-0.410493	0.04799	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.44083	1.5;1.49;1.5;0.93	4.92	4.92	0.64577	.	0.522456	0.20989	N	0.082061	T	0.31796	0.0808	L	0.50333	1.59	0.09310	N	0.999992	B	0.26672	0.156	B	0.19666	0.026	T	0.15037	-1.0451	10	0.22706	T	0.39	-22.6686	6.4473	0.21883	0.0:0.1914:0.0:0.8086	.	242	Q7Z353	HDX_HUMAN	D	242;184;242;184	ENSP00000297977:N242D;ENSP00000362272:N184D;ENSP00000423670:N242D;ENSP00000387790:N184D	ENSP00000297977:N242D	N	-	1	0	HDX	83610663	0.993000	0.37304	0.993000	0.49108	0.519000	0.34347	1.528000	0.35985	1.930000	0.55929	0.417000	0.27973	AAC		0.433	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		C	83724007	T	C	83724007	3	2	295	1	0	0	0	0	1	0	0	0	7026	1754	61	4	1380	4	HDX	23	83724007	Missense_Mutation	SNP	T	TCGA-25-1326-01A-01W-0492-08	73638699	83724007	71546553	108	16260											
SLITRK2	84631	broad.mit.edu	37	X	144905479	144905479	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1326-01A-01W-0492-08	TCGA-25-1326-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2382465c-8120-4000-8fdb-d3638bc78fd2	a128c90e-8006-4c36-8452-1fcecaf4c7a2	g.chrX:144905479A>C	ENST00000370490.1	+	1	5791	c.1536A>C	c.(1534-1536)aaA>aaC	p.K512N	SLITRK2_ENST00000434188.2_Missense_Mutation_p.K512N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.K512N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.K512N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.K512N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	512					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.K512N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCCGTGAAAGGGGTTCTGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	X											73	77	76					X																	144905479		2203	4300	6503	144713171	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1536A>C	X.37:g.144905479A>C	ENSP00000359521:p.Lys512Asn		144713171	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	8.929	0.963031	0.18583	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.51071	0.76;0.72;0.72;0.72;0.72;0.72	5.84	3.45	0.39498	.	0.243657	0.38326	N	0.001722	T	0.29491	0.0735	N	0.12527	0.23	0.36928	D	0.89176	B	0.20164	0.042	B	0.29942	0.109	T	0.13602	-1.0503	10	0.51188	T	0.08	-9.5006	6.7505	0.23485	0.7289:0.0:0.2711:0.0	.	512	Q9H156	SLIK2_HUMAN	N	512	ENSP00000334374:K512N;ENSP00000411681:K512N;ENSP00000359521:K512N;ENSP00000397015:K512N;ENSP00000407347:K512N;ENSP00000412010:K512N	ENSP00000334374:K512N	K	+	3	2	SLITRK2	144713171	0.998000	0.40836	1.000000	0.80357	0.541000	0.35023	0.680000	0.25306	0.313000	0.23062	0.486000	0.48141	AAA		0.507	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		C	144905479	A	C	144905479	3	2	295	1	0	0	0	0	1	0	0	0	14746	69	3	5	1538	5	SLITRK2	23	144905479	Missense_Mutation	SNP	A	TCGA-25-1326-01A-01W-0492-08	61181472	144905479	10365081	109	16261											
C3orf34	84984	broad.mit.edu	37	3	196434438	196434438	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1328-01A-01W-0492-08	TCGA-25-1328-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	53d65a73-5e93-4816-8684-baad40020fa6	f87cedec-a2bc-43a1-bfd2-7078cd72fbdf	g.chr3:196434438G>A	ENST00000399942.4	-	2	665	c.371C>T	c.(370-372)tCa>tTa	p.S124L	CEP19_ENST00000409690.3_Missense_Mutation_p.S163L|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	159						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.S159L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCATCAGCTGACTCTGTGTC	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											88	85	86					3																	196434438		1933	4159	6092	197918835	SO:0001583	missense	84984			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"chromosome 3 open reading frame 34"	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.371C>T	3.37:g.196434438G>A	ENSP00000382823:p.Ser124Leu		197918835	B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37		.	.	.	.	.	.	.	.	.	.	G	18.85	3.712232	0.68730	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.66	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.80892	-0.1179	9	0.59425	D	0.04	-8.8717	16.4089	0.83699	0.0:0.0:0.8674:0.1326	.	159	Q96LK0	CEP19_HUMAN	L	163;124	.	ENSP00000382823:S124L	S	-	2	0	CEP19	197918835	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	9.109000	0.94291	1.516000	0.48900	0.655000	0.94253	TCA		0.403	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		A	196434438	G	A	196434438	3	1	296	1	0	0	0	0	1	0	0	0	2224	1294	45	2	19	2	C3orf34	3	196434438	Missense_Mutation	SNP	G	TCGA-25-1328-01A-01W-0492-08		196434438	1587992	1	16262											
GPR98	84059	broad.mit.edu	37	5	90072282	90072282	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1328-01A-01W-0492-08	TCGA-25-1328-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	53d65a73-5e93-4816-8684-baad40020fa6	f87cedec-a2bc-43a1-bfd2-7078cd72fbdf	g.chr5:90072282T>A	ENST00000405460.2	+	61	12512	c.12416T>A	c.(12415-12417)aTa>aAa	p.I4139K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4139	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I4139K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTGCATCAATAATTATTCGG	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											98	98	98					5																	90072282		1924	4125	6049	90108038	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12416T>A	5.37:g.90072282T>A	ENSP00000384582:p.Ile4139Lys		90108038	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413197	0.62511	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.32515	1.45	5.27	5.27	0.74061	.	0.342627	0.34700	N	0.003756	T	0.31167	0.0788	L	0.54323	1.7	0.80722	D	1	P	0.43169	0.8	B	0.37943	0.261	T	0.19257	-1.0311	10	0.72032	D	0.01	.	15.1622	0.72793	0.0:0.0:0.0:1.0	.	4139	Q8WXG9	GPR98_HUMAN	K	4139	ENSP00000384582:I4139K	ENSP00000296619:I4139K	I	+	2	0	GPR98	90108038	1.000000	0.71417	0.759000	0.31340	0.273000	0.26683	6.665000	0.74442	2.124000	0.65301	0.519000	0.50382	ATA		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90072282	T	A	90072282	3	1	296	1	0	0	0	0	1	0	0	0	6721	1406	49	5	12658	5	GPR98	5	90072282	Missense_Mutation	SNP	T	TCGA-25-1328-01A-01W-0492-08		90072282	90842978	2	16263											
DNAH11	8701	broad.mit.edu	37	7	21882244	21882244	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1328-01A-01W-0492-08	TCGA-25-1328-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	53d65a73-5e93-4816-8684-baad40020fa6	f87cedec-a2bc-43a1-bfd2-7078cd72fbdf	g.chr7:21882244T>C	ENST00000409508.3	+	66	10805	c.10774T>C	c.(10774-10776)Tat>Cat	p.Y3592H	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y3599H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3599	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y3599H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAATCCTCACTATAAGCCGGA	0.413									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											97	90	92					7																	21882244		1886	4113	5999	21848769	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10774T>C	7.37:g.21882244T>C	ENSP00000475939:p.Tyr3592His		21848769	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	T	23.5	4.427637	0.83667	.	.	ENSG00000105877	ENST00000328843	T	0.33438	1.41	5.36	5.36	0.76844	.	0.058283	0.64402	D	0.000001	T	0.56717	0.2004	.	.	.	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.62378	-0.6867	9	0.87932	D	0	.	14.348	0.66680	0.0:0.0:0.0:1.0	.	3599	Q96DT5	DYH11_HUMAN	H	3599	ENSP00000330671:Y3599H	ENSP00000330671:Y3599H	Y	+	1	0	DNAH11	21848769	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.267000	0.72546	2.034000	0.60081	0.533000	0.62120	TAT		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		C	21882244	T	C	21882244	3	2	296	1	0	0	0	0	1	0	0	0	4599	1522	53	4	11058	4	DNAH11	7	21882244	Missense_Mutation	SNP	T	TCGA-25-1328-01A-01W-0492-08		21882244	137256419	3	16264											
TAS2R16	50833	broad.mit.edu	37	7	122634817	122634817	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1328-01A-01W-0492-08	TCGA-25-1328-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	53d65a73-5e93-4816-8684-baad40020fa6	f87cedec-a2bc-43a1-bfd2-7078cd72fbdf	g.chr7:122634817C>T	ENST00000249284.2	-	1	937	c.872G>A	c.(871-873)tGc>tAc	p.C291Y		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	291					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.C291Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTAGGCCTAGCACTTTCCCTT	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											103	107	106					7																	122634817		2203	4300	6503	122422053	SO:0001583	missense	50833			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.872G>A	7.37:g.122634817C>T	ENSP00000249284:p.Cys291Tyr		122422053	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244221	0.39697	.	.	ENSG00000128519	ENST00000249284	T	0.00892	5.57	4.1	-1.8	0.07907	.	0.447811	0.20701	N	0.087272	T	0.00524	0.0017	N	0.08118	0	0.09310	N	1	P	0.46912	0.886	B	0.37833	0.259	T	0.56025	-0.8047	10	0.87932	D	0	.	6.4055	0.21662	0.6142:0.2872:0.0:0.0986	.	291	Q9NYV7	T2R16_HUMAN	Y	291	ENSP00000249284:C291Y	ENSP00000249284:C291Y	C	-	2	0	TAS2R16	122422053	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.486000	0.06513	-0.382000	0.07870	0.591000	0.81541	TGC		0.413	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		T	122634817	C	T	122634817	3	4	296	1	0	0	0	0	1	0	0	0	15569	710	25	2	7	2	TAS2R16	7	122634817	Missense_Mutation	SNP	C	TCGA-25-1328-01A-01W-0492-08	100752573	122634817	36503846	4	16265											
DHX33	56919	broad.mit.edu	37	17	5347810	5347810	+	Silent	SNP	G	G	T			TCGA-25-1328-01A-01W-0492-08	TCGA-25-1328-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	53d65a73-5e93-4816-8684-baad40020fa6	f87cedec-a2bc-43a1-bfd2-7078cd72fbdf	g.chr17:5347810G>T	ENST00000225296.3	-	12	2039	c.1839C>A	c.(1837-1839)tcC>tcA	p.S613S	DHX33_ENST00000433302.3_Silent_p.S389S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	613					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.S613S(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGTCTCCTCGGGATGATGCGA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	17											60	57	58					17																	5347810		2203	4300	6503	5288534	SO:0001819	synonymous_variant	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1839C>A	17.37:g.5347810G>T			5288534	B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	37	CCDS11072.1																																																																																				0.597	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		T	5347810	G	T	5347810	2	4	296	1	0	0	0	0	0	0	0	1	4506	1219	43	3		3	DHX33	17	5347810	Silent	SNP	G	TCGA-25-1328-01A-01W-0492-08		5347810	75847400	5	16266											
DTNA	1837	broad.mit.edu	37	18	32398188	32398188	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1328-01A-01W-0492-08	TCGA-25-1328-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	53d65a73-5e93-4816-8684-baad40020fa6	f87cedec-a2bc-43a1-bfd2-7078cd72fbdf	g.chr18:32398188G>T	ENST00000399113.3	+	7	770	c.770G>T	c.(769-771)cGa>cTa	p.R257L	DTNA_ENST00000399121.5_Missense_Mutation_p.R257L|DTNA_ENST00000554864.3_Missense_Mutation_p.R257L|DTNA_ENST00000283365.9_Missense_Mutation_p.R257L|DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000597674.1_5'Flank|AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000595022.1_Missense_Mutation_p.R257L|DTNA_ENST00000598334.1_Missense_Mutation_p.R257L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000597599.1_Missense_Mutation_p.R257L|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000348997.5_Missense_Mutation_p.R257L|DTNA_ENST00000444659.1_Missense_Mutation_p.R257L|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.R257L|DTNA_ENST00000269191.6_Missense_Mutation_p.R257L|DTNA_ENST00000598774.1_Missense_Mutation_p.R257L|DTNA_ENST00000315456.6_Missense_Mutation_p.R257L|DTNA_ENST00000598142.1_Missense_Mutation_p.R257L			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	257	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R257L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTCGCTACCGATGCCAACAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	18											165	135	145					18																	32398188		2203	4300	6503	30652186	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.770G>T	18.37:g.32398188G>T	ENSP00000382064:p.Arg257Leu		30652186	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718319	0.96839	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.87	5.87	0.94306	Zinc finger, ZZ-type (4);	0.069786	0.64402	D	0.000019	D	0.96904	0.8989	M	0.89478	3.035	0.80722	D	1	D;P;D;D;D;D;D;D;D;D;D;D	0.71674	0.998;0.954;0.977;0.983;0.988;0.965;0.957;0.995;0.972;0.988;0.996;0.965	D;P;P;D;D;P;D;D;D;D;D;P	0.81914	0.995;0.81;0.774;0.947;0.933;0.774;0.932;0.96;0.932;0.933;0.992;0.888	D	0.96981	0.9715	10	0.87932	D	0	-9.461	20.2084	0.98285	0.0:0.0:1.0:0.0	.	7;257;257;257;257;257;257;268;257;257;257;257	B7Z3X3;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	L	257	ENSP00000283365:R257L;ENSP00000322519:R257L;ENSP00000269190:R257L;ENSP00000336682:R257L;ENSP00000382072:R257L;ENSP00000405819:R257L;ENSP00000269191:R257L;ENSP00000382064:R257L	ENSP00000269190:R257L	R	+	2	0	DTNA	30652186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.774000	0.95407	0.650000	0.86243	CGA		0.478	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		T	32398188	G	T	32398188	3	4	296	1	0	0	0	0	1	0	0	0	4788	1058	37	3	796	3	DTNA	18	32398188	Missense_Mutation	SNP	G	TCGA-25-1328-01A-01W-0492-08		32398188	45679060	6	16267											
CEACAM7	1087	broad.mit.edu	37	19	42187883	42187883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-1328-01A-01W-0492-08	TCGA-25-1328-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	53d65a73-5e93-4816-8684-baad40020fa6	f87cedec-a2bc-43a1-bfd2-7078cd72fbdf	g.chr19:42187883C>T	ENST00000006724.3	-	3	740	c.539G>A	c.(538-540)tGg>tAg	p.W180*	CEACAM7_ENST00000401731.1_Nonsense_Mutation_p.W180*|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_5'Flank	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	180	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W180*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ATTGTTTACCCACCACAGGTA	0.507																																																1	Substitution - Nonsense(1)	ovary(1)	19											162	154	156					19																	42187883		2203	4300	6503	46879723	SO:0001587	stop_gained	1087			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.539G>A	19.37:g.42187883C>T	ENSP00000006724:p.Trp180*		46879723	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Nonsense_Mutation	SNP	ENST00000006724.3	37	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511575	0.64522	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	.	.	.	2.83	-0.862	0.10673	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0487	0.09785	0.5233:0.2759:0.2008:0.0	.	.	.	.	X	180;159;180	.	ENSP00000006724:W180X	W	-	2	0	CEACAM7	46879723	0.001000	0.12720	0.045000	0.18777	0.368000	0.29767	-0.861000	0.04268	-0.425000	0.07371	0.313000	0.20887	TGG		0.507	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		T	42187883	C	T	42187883	4	4	296	1	0	0	0	0	0	1	0	0	3197	595	21	2	266	2	CEACAM7	19	42187883	Nonsense_Mutation	SNP	C	TCGA-25-1328-01A-01W-0492-08		42187883	16941100	7	16268											
TBC1D25	4943	broad.mit.edu	37	X	48417294	48417294	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1328-01A-01W-0492-08	TCGA-25-1328-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	53d65a73-5e93-4816-8684-baad40020fa6	f87cedec-a2bc-43a1-bfd2-7078cd72fbdf	g.chrX:48417294T>C	ENST00000376771.4	+	4	739	c.398T>C	c.(397-399)cTa>cCa	p.L133P	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_Intron	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	133					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.A81A(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGCCCATTGCTAGAAGACTGG	0.542																																																1	Substitution - coding silent(1)	ovary(1)	X											90	74	79					X																	48417294		2203	4300	6503	48302238	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.398T>C	X.37:g.48417294T>C	ENSP00000365962:p.Leu133Pro		48302238	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795654	0.31777	.	.	ENSG00000068354	ENST00000376771;ENST00000418627	T;T	0.49432	0.78;0.78	5.54	4.37	0.52481	.	0.141869	0.47093	D	0.000243	T	0.61311	0.2337	M	0.68952	2.095	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.65010	0.823;0.931;0.921	T	0.61724	-0.7004	10	0.62326	D	0.03	-3.6292	8.8406	0.35140	0.0:0.0901:0.0:0.9099	.	137;75;133	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	P	133;149	ENSP00000365962:L133P;ENSP00000402268:L149P	ENSP00000365962:L133P	L	+	2	0	TBC1D25	48302238	1.000000	0.71417	0.996000	0.52242	0.251000	0.25915	7.346000	0.79347	0.824000	0.34613	-0.323000	0.08544	CTA		0.542	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		C	48417294	T	C	48417294	3	2	296	1	0	0	0	0	1	0	0	0	15615	1522	53	4	412	4	TBC1D25	23	48417294	Missense_Mutation	SNP	T	TCGA-25-1328-01A-01W-0492-08		48417294	106853266	8	16269											
MTOR	2475	broad.mit.edu	37	1	11319346	11319346	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr1:11319346C>A	ENST00000361445.4	-	2	197	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	41	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A41S(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGCTCCTTGGCGGCTTTGGCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											114	113	114					1																	11319346		2203	4300	6503	11241933	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.121G>T	1.37:g.11319346C>A	ENSP00000354558:p.Ala41Ser		11241933	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857714	0.91433	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68624	-0.34	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.82508	-0.0422	10	0.62326	D	0.03	-2.9926	19.4425	0.94827	0.0:1.0:0.0:0.0	.	41	P42345	MTOR_HUMAN	S	41	ENSP00000354558:A41S	ENSP00000354558:A41S	A	-	1	0	MTOR	11241933	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.444000	0.80532	2.685000	0.91497	0.655000	0.94253	GCC		0.577	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11319346	C	A	11319346	3	1	297	1	0	0	0	0	1	0	0	0	9954	768	27	3	7756	3	MTOR	1	11319346	Missense_Mutation	SNP	C	TCGA-25-1329-01A-01W-0492-08		11319346	237931275	1	16270											
ZRANB2	9406	broad.mit.edu	37	1	71532487	71532487	+	Nonsense_Mutation	SNP	T	T	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr1:71532487T>A	ENST00000370920.3	-	9	1202	c.901A>T	c.(901-903)Aga>Tga	p.R301*	ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R301*|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2_ENST00000477096.1_5'UTR|MIR186_ENST00000384988.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	301	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R301*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CTTGTTCGTCTTTTTTTGCGA	0.383																																																1	Substitution - Nonsense(1)	ovary(1)	1											125	121	122					1																	71532487		2203	4300	6503	71305075	SO:0001587	stop_gained	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.901A>T	1.37:g.71532487T>A	ENSP00000359958:p.Arg301*		71305075	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Nonsense_Mutation	SNP	ENST00000370920.3	37	CCDS659.1	.	.	.	.	.	.	.	.	.	.	T	40	7.941183	0.98574	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3782	0.83418	0.0:0.0:0.0:1.0	.	.	.	.	X	301	.	ENSP00000254821:R301X	R	-	1	2	ZRANB2	71305075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.277000	0.76020	0.528000	0.53228	AGA		0.383	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		A	71532487	T	A	71532487	4	1	297	1	0	0	0	0	0	1	0	0	18223	1617	56	5	137	5	ZRANB2	1	71532487	Nonsense_Mutation	SNP	T	TCGA-25-1329-01A-01W-0492-08	60213141	71532487	177718134	2	16271											
WDR63	126820	broad.mit.edu	37	1	85538768	85538768	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr1:85538768G>C	ENST00000294664.6	+	3	276	c.96G>C	c.(94-96)gaG>gaC	p.E32D	WDR63_ENST00000326813.8_Missense_Mutation_p.E32D|WDR63_ENST00000370596.1_Missense_Mutation_p.E32D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	32								p.E32D(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAAATATGGAGAGCATGGGTA	0.274																																																1	Substitution - Missense(1)	ovary(1)	1											68	77	74					1																	85538768		2200	4297	6497	85311356	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.96G>C	1.37:g.85538768G>C	ENSP00000294664:p.Glu32Asp		85311356	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090669	0.36855	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.46819	0.86;0.86;0.86	4.5	2.61	0.31194	.	0.831227	0.10448	N	0.673447	T	0.23532	0.0569	L	0.57536	1.79	0.29189	N	0.876014	B;B	0.30973	0.302;0.201	B;B	0.32805	0.153;0.054	T	0.14559	-1.0468	10	0.26408	T	0.33	-17.4017	7.7145	0.28696	0.2028:0.0:0.7972:0.0	.	32;32	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	D	32	ENSP00000359628:E32D;ENSP00000317463:E32D;ENSP00000294664:E32D	ENSP00000294664:E32D	E	+	3	2	WDR63	85311356	0.905000	0.30787	0.994000	0.49952	0.916000	0.54674	0.288000	0.18939	1.205000	0.43262	0.585000	0.79938	GAG		0.274	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		C	85538768	G	C	85538768	3	2	297	1	0	0	0	0	1	0	0	0	17314	933	33	3	102	3	WDR63	1	85538768	Missense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08	14006281	85538768	163711853	3	16272											
PHGDH	26227	broad.mit.edu	37	1	120284484	120284484	+	Silent	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr1:120284484G>A	ENST00000369409.4	+	10	1309	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_Silent_p.V357V	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	391					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)	p.V391V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		TGAACTTGGTGAACGCTAAGC	0.587																																																1	Substitution - coding silent(1)	ovary(1)	1											86	74	78					1																	120284484		2203	4300	6503	120086007	SO:0001819	synonymous_variant	26227			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1173G>A	1.37:g.120284484G>A			120086007	B2RD08|Q5SZU3|Q9BQ01	Silent	SNP	ENST00000369409.4	37	CCDS904.1																																																																																				0.587	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		A	120284484	G	A	120284484	2	1	297	1	0	0	0	0	0	0	0	1	11841	1277	45	2		2	PHGDH	1	120284484	Silent	SNP	G	TCGA-25-1329-01A-01W-0492-08	34745716	120284484	128966137	4	16273											
KCNS3	3790	broad.mit.edu	37	2	18112778	18112778	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr2:18112778G>A	ENST00000403915.1	+	3	954	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.R168Q	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	168					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.R168Q(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTCAGCTCCGGAAGAAAATC	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											59	65	63					2																	18112778		2203	4300	6503	17976259	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.503G>A	2.37:g.18112778G>A	ENSP00000385968:p.Arg168Gln		17976259	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165400	0.57476	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97138	-4.26;-4.26	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97129	0.9062	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.95050	0.8186	10	0.14656	T	0.56	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	168	Q9BQ31	KCNS3_HUMAN	Q	168	ENSP00000385968:R168Q;ENSP00000305824:R168Q	ENSP00000305824:R168Q	R	+	2	0	KCNS3	17976259	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	CGG		0.507	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		A	18112778	G	A	18112778	3	1	297	1	0	0	0	0	1	0	0	0	8090	1116	39	1	505	1	KCNS3	2	18112778	Missense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08		18112778	225086595	5	16274											
TTN	7273	broad.mit.edu	37	2	179641544	179641544	+	Nonsense_Mutation	SNP	G	G	A	rs587780490		TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr2:179641544G>A	ENST00000591111.1	-	28	5271	c.5047C>T	c.(5047-5049)Cga>Tga	p.R1683*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R1683*|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.R1683*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R1637*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R1637*|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R1683*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R1637*			Q8WZ42	TITIN_HUMAN	titin	12526					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R1683*(2)|p.R1637*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCCATATCGCAAATGGAGG	0.453																																																3	Substitution - Nonsense(3)	ovary(3)	2											77	73	74					2																	179641544		2203	4300	6503	179349789	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5047C>T	2.37:g.179641544G>A	ENSP00000465570:p.Arg1683*		179349789	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	46	12.204015	0.99646	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.33	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0786	0.64905	0.0:0.0:0.7184:0.2816	.	.	.	.	X	1683;1637;1637;1637;1637;1683	.	ENSP00000340554:R1637X	R	-	1	2	TTN	179349789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.544000	0.67231	1.204000	0.43247	0.650000	0.86243	CGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179641544	G	A	179641544	4	1	297	1	0	0	0	0	0	1	0	0	16735	1095	38	1	106281	1	TTN	2	179641544	Nonsense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08	161528766	179641544	63557829	6	16275											
EPHB1	2047	broad.mit.edu	37	3	134851574	134851574	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr3:134851574G>A	ENST00000398015.3	+	5	1350	c.980G>A	c.(979-981)cGc>cAc	p.R327H	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	327	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R327H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCAGGTCCCCGCAATGTTATC	0.547																																																2	Substitution - Missense(2)	ovary(2)	3											51	52	52					3																	134851574		2000	4181	6181	136334264	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.980G>A	3.37:g.134851574G>A	ENSP00000381097:p.Arg327His		136334264	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468249	0.84533	.	.	ENSG00000154928	ENST00000398015	T	0.58652	0.32	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71244	-0.4650	10	0.44086	T	0.13	.	19.8251	0.96614	0.0:0.0:1.0:0.0	.	327	P54762	EPHB1_HUMAN	H	327	ENSP00000381097:R327H	ENSP00000381097:R327H	R	+	2	0	EPHB1	136334264	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	7.978000	0.88095	2.692000	0.91855	0.655000	0.94253	CGC		0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		A	134851574	G	A	134851574	3	1	297	1	0	0	0	0	1	0	0	0	5174	1087	38	1	998	1	EPHB1	3	134851574	Missense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08		134851574	63170856	7	16276											
MFAP3L	9848	broad.mit.edu	37	4	170913402	170913402	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr4:170913402G>T	ENST00000361618.3	-	3	664	c.357C>A	c.(355-357)gaC>gaA	p.D119E	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.D16E	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	119	Ig-like C2-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D119E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTTACCTCGGTCTGAGAAGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	4											115	100	105					4																	170913402		2203	4300	6503	171149977	SO:0001583	missense	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.357C>A	4.37:g.170913402G>T	ENSP00000354583:p.Asp119Glu		171149977	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441270	0.63067	.	.	ENSG00000198948	ENST00000393704;ENST00000361618;ENST00000512698;ENST00000502832;ENST00000507601	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.68	3.95	0.45737	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91085	0.7194	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91188	0.4981	10	0.87932	D	0	-14.607	10.0887	0.42434	0.2136:0.0:0.7864:0.0	.	119	O75121	MFA3L_HUMAN	E	16;119;16;16;16	ENSP00000377307:D16E;ENSP00000354583:D119E;ENSP00000422791:D16E;ENSP00000423722:D16E;ENSP00000423802:D16E	ENSP00000354583:D119E	D	-	3	2	MFAP3L	171149977	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.511000	0.53400	0.751000	0.32900	0.650000	0.86243	GAC		0.507	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		T	170913402	G	T	170913402	3	4	297	1	0	0	0	0	1	0	0	0	9516	1252	44	3	876	3	MFAP3L	4	170913402	Missense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08		170913402	20240874	8	16277											
SLC6A18	348932	broad.mit.edu	37	5	1232360	1232360	+	Missense_Mutation	SNP	G	G	A	rs140475239		TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr5:1232360G>A	ENST00000324642.3	+	2	310	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A63T	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	63					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.A63T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTACGTCATCGCGCTGGTCTT	0.701																																																1	Substitution - Missense(1)	ovary(1)	5						G	THR/ALA	0,4406		0,0,2203	45	45	45		187	5.4	0.9	5	dbSNP_134	45	1,8599		0,1,4299	no	missense	SLC6A18	NM_182632.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	63/629	1232360	1,13005	2203	4300	6503	1285360	SO:0001583	missense	348932			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.187G>A	5.37:g.1232360G>A	ENSP00000323549:p.Ala63Thr		1285360		Missense_Mutation	SNP	ENST00000324642.3	37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163485	0.78226	0.0	1.16E-4	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.75589	-0.95;-0.95	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.83280	0.5220	L	0.60067	1.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.79857	-0.1626	10	0.25106	T	0.35	.	17.0443	0.86498	0.0:0.0:1.0:0.0	.	63	Q96N87	S6A18_HUMAN	T	63	ENSP00000323549:A63T;ENSP00000296821:A63T	ENSP00000296821:A63T	A	+	1	0	SLC6A18	1285360	1.000000	0.71417	0.905000	0.35620	0.004000	0.04260	4.775000	0.62346	2.560000	0.86352	0.491000	0.48974	GCG		0.701	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		A	1232360	G	A	1232360	3	1	297	1	0	0	0	0	1	0	0	0	14684	1087	38	1	193	1	SLC6A18	5	1232360	Missense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08		1232360	179682900	9	16278											
PRDM9	56979	broad.mit.edu	37	5	23526345	23526345	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA;Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr5:23526345C>G	ENST00000296682.3	+	11	1330	c.1148C>G	c.(1147-1149)cCa>cGa	p.P383R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	383					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.P383R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTTCAGAACCAAAGCCAGAG	0.408										HNSCC(3;0.000094)																																						1	Substitution - Missense(1)	ovary(1)	5											93	91	92					5																	23526345		2203	4297	6500	23562102	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1148C>G	5.37:g.23526345C>G	ENSP00000296682:p.Pro383Arg		23562102	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	3.034	-0.198966	0.06219	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09073	3.02	3.65	0.592	0.17471	.	0.459509	0.16272	N	0.221745	T	0.05273	0.0140	L	0.38838	1.175	0.09310	N	1	P	0.40476	0.718	B	0.39299	0.296	T	0.32587	-0.9901	10	0.12430	T	0.62	0.6291	3.4144	0.07371	0.2004:0.5571:0.0:0.2425	.	383	Q9NQV7	PRDM9_HUMAN	R	383;177	ENSP00000296682:P383R	ENSP00000253473:P177R	P	+	2	0	PRDM9	23562102	0.808000	0.29022	0.001000	0.08648	0.089000	0.18198	-0.057000	0.11768	-0.040000	0.13580	0.505000	0.49811	CCA		0.408	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		G	23526345	C	G	23526345	3	3	297	1	0	0	0	0	1	0	0	0	12466	594	21	3	1186	3	PRDM9	5	23526345	Missense_Mutation	SNP	C	TCGA-25-1329-01A-01W-0492-08	22293985	23526345	157388915	10	16279											
ZFP57	4340	broad.mit.edu	37	6	29640604	29640604	+	IGR	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr6:29640604G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Silent_p.V408V|ZFP57_ENST00000488757.1_Silent_p.V428V|ZFP57_ENST00000376881.3_Silent_p.V408V	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V408V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GCTGGTGTCTGACCAGCCTGG	0.537																																																2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	6											172	181	178					6																	29640604		1270	2584	3854	29748583	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640604G>A			29748583	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	CCDS34370.1																																																																																				0.537	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		A	29640604	G	A	29640604	1	1	297	0	1	0	0	0	0	0	0	0	17651	1277	45	2		2	ZFP57	6	29640604	IGR	SNP	G	TCGA-25-1329-01A-01W-0492-08		29640604	141474463	11	16280											
C6orf27	80737	broad.mit.edu	37	6	31734090	31734090	+	Silent	SNP	C	C	T	rs144453409		TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr6:31734090C>T	ENST00000375688.4	-	15	2456	c.2256G>A	c.(2254-2256)tcG>tcA	p.S752S	SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Silent_p.S752S			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	752						extracellular region (GO:0005576)		p.S752S(1)									CCTGAGGGCCCGAGAAGCTGG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	6						C		0,3020		0,0,1510	36	30	32		2256	-9.1	0	6	dbSNP_134	32	1,5417		0,1,2708	no	coding-synonymous	C6orf27	NM_025258.2		0,1,4218	TT,TC,CC		0.0185,0.0,0.0119		752/892	31734090	1,8437	1510	2709	4219	31842069	SO:0001819	synonymous_variant	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2256G>A	6.37:g.31734090C>T			31842069	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	CCDS4721.2																																																																																				0.612	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		T	31734090	C	T	31734090	2	4	297	1	0	0	0	0	0	0	0	1	2362	639	23	1		1	C6orf27	6	31734090	Silent	SNP	C	TCGA-25-1329-01A-01W-0492-08	2093486	31734090	139380977	12	16281											
CENPQ	55166	broad.mit.edu	37	6	49448716	49448716	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr6:49448716T>G	ENST00000335783.3	+	6	494	c.400T>G	c.(400-402)Tta>Gta	p.L134V		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	134					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L134V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					GATGGAAGATTTAACTAATGT	0.328																																																1	Substitution - Missense(1)	ovary(1)	6											100	104	103					6																	49448716		2203	4300	6503	49556675	SO:0001583	missense	55166			AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"chromosome 6 open reading frame 139"	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.400T>G	6.37:g.49448716T>G	ENSP00000337289:p.Leu134Val		49556675	A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291800	0.40594	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.40476	1.03	5.83	1.69	0.24217	.	0.315538	0.28349	N	0.015673	T	0.38348	0.1037	M	0.76002	2.32	0.31749	N	0.634788	D	0.61080	0.989	P	0.60345	0.873	T	0.28459	-1.0043	10	0.62326	D	0.03	-3.2172	3.5561	0.07865	0.0:0.2282:0.195:0.5767	.	134	Q7L2Z9	CENPQ_HUMAN	V	134	ENSP00000337289:L134V	ENSP00000337289:L134V	L	+	1	2	CENPQ	49556675	0.838000	0.29461	0.941000	0.38009	0.093000	0.18481	0.291000	0.18994	0.525000	0.28522	0.524000	0.50904	TTA		0.328	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		G	49448716	T	G	49448716	3	3	297	1	0	0	0	0	1	0	0	0	3241	1838	64	5	418	5	CENPQ	6	49448716	Missense_Mutation	SNP	T	TCGA-25-1329-01A-01W-0492-08	17714626	49448716	121666351	13	16282											
CHN2	1124	broad.mit.edu	37	7	29546871	29546871	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr7:29546871A>T	ENST00000222792.6	+	11	1549	c.1019A>T	c.(1018-1020)aAt>aTt	p.N340I	CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.N325I|CHN2_ENST00000421775.2_Missense_Mutation_p.N146I|CHN2_ENST00000439711.2_Intron|CHN2_ENST00000539389.1_Missense_Mutation_p.N196I|CHN2_ENST00000424025.2_Missense_Mutation_p.N159I|CHN2_ENST00000409041.4_Missense_Mutation_p.N204I|CHN2_ENST00000495789.2_Missense_Mutation_p.N353I|CHN2_ENST00000539406.1_Missense_Mutation_p.N415I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	340	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.N340I(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ATATCTGCCAATGTCTATCCA	0.373																																					Ovarian(1;44 48 13232 18918 31480)											1	Substitution - Missense(1)	ovary(1)	7											109	102	104					7																	29546871		2203	4300	6503	29513396	SO:0001583	missense	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1019A>T	7.37:g.29546871A>T	ENSP00000222792:p.Asn340Ile		29513396	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	CCDS5420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.97|12.97	2.097771|2.097771	0.37048|0.37048	.|.	.|.	ENSG00000106069|ENSG00000106069	ENST00000433720|ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000421775	.|T;T;T;T;T;T;T;T;T	.|0.10573	.|2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.41|5.41	1.77|1.77	0.24775|0.24775	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.362897	.|0.36893	.|N	.|0.002360	T|T	0.12347|0.12347	0.0300|0.0300	M|M	0.63169|0.63169	1.94|1.94	0.46725|0.46725	D|D	0.999177|0.999177	.|B;B;B;B;B;B;B;B;B;B	.|0.27166	.|0.045;0.013;0.029;0.098;0.17;0.001;0.016;0.003;0.17;0.003	.|B;B;B;B;B;B;B;B;B;B	.|0.35182	.|0.025;0.021;0.008;0.029;0.197;0.012;0.017;0.006;0.197;0.006	T|T	0.06006|0.06006	-1.0851|-1.0851	5|10	.|0.38643	.|T	.|0.18	.|.	5.2877|5.2877	0.15710|0.15710	0.5622:0.1446:0.2933:0.0|0.5622:0.1446:0.2933:0.0	.|.	.|133;325;353;415;159;146;196;340;204;340	.|B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.|.;.;.;.;.;.;.;.;.;CHIO_HUMAN	L|I	19|415;340;353;196;325;165;204;159;146	.|ENSP00000444063:N415I;ENSP00000222792:N340I;ENSP00000438587:N353I;ENSP00000440526:N196I;ENSP00000442812:N325I;ENSP00000396867:N165I;ENSP00000386849:N204I;ENSP00000406337:N159I;ENSP00000394284:N146I	.|ENSP00000222792:N340I	M|N	+|+	1|2	0|0	CHN2|CHN2	29513396|29513396	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	0.877000|0.877000	0.28106|0.28106	0.452000|0.452000	0.26830|0.26830	-0.297000|-0.297000	0.09499|0.09499	ATG|AAT		0.373	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		T	29546871	A	T	29546871	3	4	297	1	0	0	0	0	1	0	0	0	3363	101	4	5	1229	5	CHN2	7	29546871	Missense_Mutation	SNP	A	TCGA-25-1329-01A-01W-0492-08		29546871	129591792	14	16283											
RSBN1L	222194	broad.mit.edu	37	7	77325800	77325800	+	Missense_Mutation	SNP	C	C	T	rs375776456		TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr7:77325800C>T	ENST00000334955.8	+	1	41	c.14C>T	c.(13-15)cCg>cTg	p.P5L	RSBN1L_ENST00000445288.1_5'Flank|RSBN1L-AS1_ENST00000440088.1_lincRNA	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	5						nucleus (GO:0005634)		p.P5L(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGGAACCGCCGAGCCCCGTG	0.697																																																1	Substitution - Missense(1)	ovary(1)	7											49	65	60					7																	77325800		1883	4097	5980	77163736	SO:0001583	missense	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.14C>T	7.37:g.77325800C>T	ENSP00000334040:p.Pro5Leu		77163736	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835138	0.50951	.	.	ENSG00000187257	ENST00000334955	.	.	.	4.16	2.32	0.28847	.	0.000000	0.37437	N	0.002095	T	0.38161	0.1030	N	0.24115	0.695	0.80722	D	1	B	0.22983	0.078	B	0.12837	0.008	T	0.25152	-1.0140	9	0.48119	T	0.1	-6.9048	7.731	0.28788	0.0:0.7863:0.0:0.2137	.	5	Q6PCB5	RSBNL_HUMAN	L	5	.	ENSP00000334040:P5L	P	+	2	0	RSBN1L	77163736	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	0.780000	0.26760	1.076000	0.40961	0.467000	0.42956	CCG		0.697	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		T	77325800	C	T	77325800	3	4	297	1	0	0	0	0	1	0	0	0	13700	652	23	1	16	1	RSBN1L	7	77325800	Missense_Mutation	SNP	C	TCGA-25-1329-01A-01W-0492-08	47778929	77325800	81812863	15	16284											
TNFRSF10A	8797	broad.mit.edu	37	8	23060238	23060238	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr8:23060238C>T	ENST00000221132.3	-	3	504	c.440G>A	c.(439-441)cGg>cAg	p.R147Q		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	147					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)	p.R147Q(1)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTCTGTGCACCGGTTACAGGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	8											172	155	161					8																	23060238		2203	4300	6503	23116183	SO:0001583	missense	8797			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.440G>A	8.37:g.23060238C>T	ENSP00000221132:p.Arg147Gln		23116183	A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	c	4.690	0.128217	0.08981	.	.	ENSG00000104689	ENST00000221132	T	0.41065	1.01	3.48	-4.43	0.03568	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.646185	0.14385	N	0.322862	T	0.14270	0.0345	N	0.03608	-0.345	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.07404	-1.0774	10	0.46703	T	0.11	.	3.8322	0.08879	0.0926:0.1255:0.2047:0.5772	.	147	O00220	TR10A_HUMAN	Q	147	ENSP00000221132:R147Q	ENSP00000221132:R147Q	R	-	2	0	TNFRSF10A	23116183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.595000	0.00896	-0.987000	0.03494	-3.468000	0.00035	CGG		0.493	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		T	23060238	C	T	23060238	3	4	297	1	0	0	0	0	1	0	0	0	16280	652	23	1	998	1	TNFRSF10A	8	23060238	Missense_Mutation	SNP	C	TCGA-25-1329-01A-01W-0492-08		23060238	123303784	16	16285											
MCART1	92014	broad.mit.edu	37	9	37888379	37888379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr9:37888379G>A	ENST00000377716.2	-	3	912	c.169C>T	c.(169-171)Cga>Tga	p.R57*	SLC25A51_ENST00000380590.3_Nonsense_Mutation_p.R57*|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000242275.6_Nonsense_Mutation_p.R57*			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	57					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R57*(1)									AGCTGTTGTCGAAAGAGGACC	0.438																																																1	Substitution - Nonsense(1)	ovary(1)	9											113	103	107					9																	37888379		2203	4300	6503	37878379	SO:0001587	stop_gained	92014			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"Solute carriers"	23323	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 1"	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.169C>T	9.37:g.37888379G>A	ENSP00000366945:p.Arg57*		37878379		Nonsense_Mutation	SNP	ENST00000377716.2	37	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	39	7.595383	0.98381	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	.	.	.	4.84	1.86	0.25419	.	0.278292	0.29335	N	0.012460	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8855	0.52600	0.0:0.0:0.5431:0.4569	.	.	.	.	X	57	.	ENSP00000242275:R57X	R	-	1	2	MCART1	37878379	1.000000	0.71417	0.820000	0.32676	0.177000	0.22998	5.253000	0.65452	0.089000	0.17243	-0.302000	0.09304	CGA		0.438	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		A	37888379	G	A	37888379	4	1	297	1	0	0	0	0	0	1	0	0	9369	1066	37	1	728	1	MCART1	9	37888379	Nonsense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08		37888379	103325052	17	16286											
PRPF4	9128	broad.mit.edu	37	9	116053834	116053834	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr9:116053834T>A	ENST00000374198.4	+	14	1565	c.1463T>A	c.(1462-1464)cTg>cAg	p.L488Q	PRPF4_ENST00000374199.4_Missense_Mutation_p.L487Q	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	488					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.L488Q(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CTGAAGACTCTGGCTGGCCAC	0.527																																																1	Substitution - Missense(1)	ovary(1)	9											96	91	93					9																	116053834		2203	4300	6503	115093655	SO:0001583	missense	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.1463T>A	9.37:g.116053834T>A	ENSP00000363313:p.Leu488Gln		115093655	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512013	0.85389	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.68479	-0.33;-0.33	5.95	5.95	0.96441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86822	0.6025	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90355	0.4369	10	0.87932	D	0	.	15.6048	0.76658	0.0:0.0:0.0:1.0	.	503;488	Q59EL4;O43172	.;PRP4_HUMAN	Q	487;488	ENSP00000363315:L487Q;ENSP00000363313:L488Q	ENSP00000363313:L488Q	L	+	2	0	PRPF4	115093655	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.375000	0.79646	2.279000	0.76181	0.533000	0.62120	CTG		0.527	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		A	116053834	T	A	116053834	3	1	297	1	0	0	0	0	1	0	0	0	12573	1580	55	5	1517	5	PRPF4	9	116053834	Missense_Mutation	SNP	T	TCGA-25-1329-01A-01W-0492-08	78165455	116053834	25159597	18	16287											
COL5A1	1289	broad.mit.edu	37	9	137716496	137716496	+	Silent	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr9:137716496G>A	ENST00000371817.3	+	62	5163	c.4749G>A	c.(4747-4749)acG>acA	p.T1583T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1583	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.T1583T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CATCCAGGACGCGGCGGAACA	0.642																																																1	Substitution - coding silent(1)	ovary(1)	9											53	46	48					9																	137716496		2203	4300	6503	136856317	SO:0001819	synonymous_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4749G>A	9.37:g.137716496G>A			136856317	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359271	0.24598	.	.	ENSG00000130635	ENST00000371820	.	.	.	4.21	-3.22	0.05125	.	.	.	.	.	T	0.47488	0.1448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41822	-0.9487	4	.	.	.	.	5.1196	0.14852	0.0909:0.1444:0.5596:0.2051	.	.	.	.	T	3	.	.	A	+	1	0	COL5A1	136856317	0.004000	0.15560	0.235000	0.24058	0.913000	0.54294	-1.368000	0.02580	-0.404000	0.07610	0.442000	0.29010	GCG		0.642	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137716496	G	A	137716496	2	1	297	1	0	0	0	0	0	0	0	1	3696	1074	38	1		1	COL5A1	9	137716496	Silent	SNP	G	TCGA-25-1329-01A-01W-0492-08	21662662	137716496	3496935	19	16288											
ITGB1	3688	broad.mit.edu	37	10	33209233	33209233	+	Silent	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr10:33209233G>A	ENST00000396033.2	-	10	1344	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	ITGB1_ENST00000423113.1_Silent_p.N403N|ITGB1_ENST00000302278.3_Silent_p.N403N|ITGB1_ENST00000374956.4_Silent_p.N403N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	403					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.N403N(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CATTCACCCCGTTCTTGCAGT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	10											152	129	137					10																	33209233		2203	4300	6503	33249239	SO:0001819	synonymous_variant	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1209C>T	10.37:g.33209233G>A			33249239	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	CCDS7174.1																																																																																				0.358	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		A	33209233	G	A	33209233	2	1	297	1	0	0	0	0	0	0	0	1	7890	1136	40	1		1	ITGB1	10	33209233	Silent	SNP	G	TCGA-25-1329-01A-01W-0492-08		33209233	102325514	20	16289											
MRGPRE	116534	broad.mit.edu	37	11	3249990	3249990	+	Missense_Mutation	SNP	C	C	T	rs370026011	byFrequency	TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr11:3249990C>T	ENST00000389832.5	-	2	346	c.40G>A	c.(40-42)Gcc>Acc	p.A14T	MRGPRE_ENST00000436689.2_Missense_Mutation_p.A13T|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A13T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCGCCGTTGGCGGCCCCCACG	0.672													C|||	9	0.00179712	0	0	5008	,	,		17642	0.0089		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11						C	THR/ALA	0,3924		0,0,1962	28	31	30		37	-4.2	0	11		30	1,8289		0,1,4144	no	missense	MRGPRE	NM_001039165.2	58	0,1,6106	TT,TC,CC		0.0121,0.0,0.0082	benign	13/312	3249990	1,12213	1962	4145	6107	3206566	SO:0001583	missense	116534			AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.40G>A	11.37:g.3249990C>T	ENSP00000374482:p.Ala14Thr		3206566	Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37		.	.	.	.	.	.	.	.	.	.	c	0.041	-1.283269	0.01398	0.0	1.21E-4	ENSG00000184350	ENST00000436689;ENST00000389832	T	0.02446	4.29	2.63	-4.22	0.03800	.	3.568200	0.02626	U	0.103755	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.15484	0.013	T	0.43327	-0.9398	10	0.08381	T	0.77	.	4.329	0.11053	0.3977:0.3632:0.2391:0.0	.	13	Q86SM8	MRGRE_HUMAN	T	14;13	ENSP00000374482:A13T	ENSP00000374482:A13T	A	-	1	0	MRGPRE	3206566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.307000	0.08167	-0.847000	0.04168	-0.494000	0.04653	GCC		0.672	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		T	3249990	C	T	3249990	3	4	297	1	0	0	0	0	1	0	0	0	9764	768	27	1	902	1	MRGPRE	11	3249990	Missense_Mutation	SNP	C	TCGA-25-1329-01A-01W-0492-08		3249990	131756526	21	16290											
C11orf65	160140	broad.mit.edu	37	11	108277839	108277839	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr11:108277839C>T	ENST00000529391.1	-	3	221	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	C11orf65_ENST00000393084.1_Missense_Mutation_p.R71Q|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_5'Flank			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	71								p.R71Q(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TAATCTGAATCGCACATGAAT	0.294																																																1	Substitution - Missense(1)	ovary(1)	11											45	43	44					11																	108277839		2201	4297	6498	107783049	SO:0001583	missense	160140			BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.212G>A	11.37:g.108277839C>T	ENSP00000436400:p.Arg71Gln		107783049	B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275605	0.80580	.	.	ENSG00000166323	ENST00000529391;ENST00000393084	T;T	0.35236	1.32;1.32	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000004	T	0.58075	0.2097	M	0.79475	2.455	0.37899	D	0.930977	D	0.89917	1.0	D	0.71870	0.975	T	0.65990	-0.6034	10	0.72032	D	0.01	-10.4074	11.1119	0.48237	0.0:0.9126:0.0:0.0874	.	71	Q8NCR3	CK065_HUMAN	Q	71	ENSP00000436400:R71Q;ENSP00000376799:R71Q	ENSP00000376799:R71Q	R	-	2	0	C11orf65	107783049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.127000	0.57944	2.476000	0.83614	0.650000	0.86243	CGA		0.294	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		T	108277839	C	T	108277839	3	4	297	1	0	0	0	0	1	0	0	0	1655	884	31	1	753	1	C11orf65	11	108277839	Missense_Mutation	SNP	C	TCGA-25-1329-01A-01W-0492-08	105027849	108277839	26728677	22	16291											
GRIK4	2900	broad.mit.edu	37	11	120776148	120776148	+	Silent	SNP	C	C	T	rs144767530		TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr11:120776148C>T	ENST00000527524.2	+	13	1709	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	GRIK4_ENST00000438375.2_Silent_p.G474G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	474					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G474G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCGTGTACGGCGTTCCCGAGG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	11											133	131	132					11																	120776148		2203	4299	6502	120281358	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1422C>T	11.37:g.120776148C>T			120281358	A8K9L1	Silent	SNP	ENST00000527524.2	37	CCDS8433.1																																																																																				0.612	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		T	120776148	C	T	120776148	2	4	297	1	0	0	0	0	0	0	0	1	6776	755	27	1		1	GRIK4	11	120776148	Silent	SNP	C	TCGA-25-1329-01A-01W-0492-08	12498309	120776148	14230368	23	16292											
NINJ2	283358	broad.mit.edu	37	12	674564	674564	+	IGR	SNP	C	C	T			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr12:674564C>T	ENST00000266383.5	+	0	5068				NINJ2_ENST00000542920.1_Missense_Mutation_p.R53Q|NINJ2_ENST00000537416.1_5'Flank|NINJ2_ENST00000305108.4_Missense_Mutation_p.R135Q|NINJ2_ENST00000433832.2_3'UTR|NINJ2_ENST00000397265.3_Missense_Mutation_p.R82Q	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.R135Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGGTTCAGCCGTGCTGCAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											118	108	111					12																	674564		2203	4300	6503	544825	SO:0001628	intergenic_variant	4815			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.674564C>T			544825	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484292	0.44147	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920	T;T;T	0.41065	1.01;1.01;1.01	4.89	1.97	0.26223	.	0.284575	0.33631	N	0.004713	T	0.35537	0.0935	M	0.62723	1.935	0.19575	N	0.999964	B	0.27316	0.175	B	0.23852	0.049	T	0.19943	-1.0290	10	0.30078	T	0.28	-4.1378	8.9016	0.35499	0.2639:0.6648:0.0:0.0712	.	89	Q9NZG7	NINJ2_HUMAN	Q	135;82;53	ENSP00000307552:R135Q;ENSP00000380435:R82Q;ENSP00000438831:R53Q	ENSP00000307552:R135Q	R	-	2	0	NINJ2	544825	0.000000	0.05858	0.655000	0.29622	0.826000	0.46750	0.416000	0.21198	0.108000	0.17862	0.491000	0.48974	CGG		0.562	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		T	674564	C	T	674564	1	4	297	0	1	0	0	0	0	0	0	0	10419	652	23	1		1	NINJ2	12	674564	IGR	SNP	C	TCGA-25-1329-01A-01W-0492-08		674564	133177331	24	16293											
CD163L1	283316	broad.mit.edu	37	12	7531634	7531634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr12:7531634G>A	ENST00000313599.3	-	9	2368	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	771	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	12											72	72	72					12																	7531634		2203	4300	6503	7422901	SO:0001587	stop_gained	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2311C>T	12.37:g.7531634G>A	ENSP00000315945:p.Arg771*		7422901	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076743	0.94000	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	1.82	-1.31	0.09230	.	3.403600	0.01971	U	0.044106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	3.6624	0.08244	0.1909:0.0:0.4673:0.3418	.	.	.	.	X	771;781;771	.	ENSP00000315945:R771X	R	-	1	2	CD163L1	7422901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.284000	0.08422	-0.315000	0.08703	0.455000	0.32223	CGA		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7531634	G	A	7531634	4	1	297	1	0	0	0	0	0	1	0	0	2968	1153	40	1	2094	1	CD163L1	12	7531634	Nonsense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08	6857070	7531634	126320261	25	16294											
GLIPR1L2	144321	broad.mit.edu	37	12	75816731	75816731	+	Missense_Mutation	SNP	G	G	A	rs144813686	byFrequency	TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr12:75816731G>A	ENST00000550916.1	+	4	679	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	GLIPR1L2_ENST00000435775.1_3'UTR|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.R211Q|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.R104Q|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.R146Q	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	211						integral component of membrane (GO:0016021)		p.R211Q(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTTGTACTCGATGTGGCAGA	0.328													G|||	3	0.000599042	0	0	5008	,	,		16761	0.002		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12						G	GLN/ARG	0,4406		0,0,2203	165	162	163		632	-0.7	0	12	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GLIPR1L2	NM_152436.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	211/254	75816731	1,13005	2203	4300	6503	74102998	SO:0001583	missense	144321			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.632G>A	12.37:g.75816731G>A	ENSP00000448248:p.Arg211Gln		74102998	Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	CCDS58258.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.745	0.506302	0.12883	0.0	1.16E-4	ENSG00000180481	ENST00000550916;ENST00000378692;ENST00000320460;ENST00000441218	T;T;T;T	0.10860	3.34;2.83;3.32;3.02	4.99	-0.737	0.11129	.	1.368980	0.04721	N	0.419272	T	0.04815	0.0130	N	0.05487	-0.04	0.09310	N	1	B;B	0.13145	0.003;0.007	B;B	0.14578	0.002;0.011	T	0.38908	-0.9639	10	0.11794	T	0.64	.	3.7034	0.08391	0.4952:0.0:0.3406:0.1642	.	211;211	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	Q	211;104;211;146	ENSP00000448248:R211Q;ENSP00000367963:R104Q;ENSP00000317385:R211Q;ENSP00000405273:R146Q	ENSP00000317385:R211Q	R	+	2	0	GLIPR1L2	74102998	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.487000	0.06505	-0.411000	0.07530	-0.913000	0.02753	CGA		0.328	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		A	75816731	G	A	75816731	3	1	297	1	0	0	0	0	1	0	0	0	6443	1058	37	1	646	1	GLIPR1L2	12	75816731	Missense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08	68285097	75816731	58035164	26	16295											
TMEM132D	121256	broad.mit.edu	37	12	129559049	129559049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr12:129559049G>A	ENST00000422113.2	-	9	2997	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.Q429*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	891					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Q891*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGTCCACCTGGGCTGGGAAG	0.522																																																1	Substitution - Nonsense(1)	ovary(1)	12											93	88	90					12																	129559049		2203	4300	6503	128125002	SO:0001587	stop_gained	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2671C>T	12.37:g.129559049G>A	ENSP00000408581:p.Gln891*		128125002	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	41	8.950751	0.99014	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	.	.	.	3.85	3.85	0.44370	.	0.097175	0.43919	D	0.000502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2427	16.1212	0.81359	0.0:0.0:1.0:0.0	.	.	.	.	X	429;891	.	.	Q	-	1	0	TMEM132D	128125002	0.998000	0.40836	0.072000	0.20136	0.656000	0.38851	3.565000	0.53798	1.849000	0.53698	0.313000	0.20887	CAG		0.522	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129559049	G	A	129559049	4	1	297	1	0	0	0	0	0	1	0	0	16047	1357	47	2	632	2	TMEM132D	12	129559049	Nonsense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08	53742318	129559049	4292846	27	16296											
C13orf23	80209	broad.mit.edu	37	13	39587390	39587390	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr13:39587390T>C	ENST00000352251.3	-	11	2832	c.1999A>G	c.(1999-2001)Agt>Ggt	p.S667G	PROSER1_ENST00000350125.3_Missense_Mutation_p.S645G|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	667	Ser-rich.							p.S667G(1)									AAAGGAGTACTCAAGCTGGAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	13											122	114	116					13																	39587390		2203	4300	6503	38485390	SO:0001583	missense	80209			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1999A>G	13.37:g.39587390T>C	ENSP00000332034:p.Ser667Gly		38485390	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971030	0.53614	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.56611	0.45;0.45	5.27	5.27	0.74061	.	.	.	.	.	T	0.38665	0.1049	L	0.29908	0.895	0.37949	D	0.932604	P;P	0.39480	0.675;0.461	B;B	0.34093	0.175;0.145	T	0.40813	-0.9543	8	.	.	.	-13.1738	14.659	0.68855	0.0:0.0:0.0:1.0	.	645;667	A6NJ97;Q86XN7	.;PRSR1_HUMAN	G	667;645	ENSP00000332034:S667G;ENSP00000339123:S645G	.	S	-	1	0	PROSER1	38485390	0.999000	0.42202	0.856000	0.33681	0.659000	0.38960	3.386000	0.52492	2.116000	0.64780	0.459000	0.35465	AGT		0.463	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		C	39587390	T	C	39587390	3	2	297	1	0	0	0	0	1	0	0	0	1721	1551	54	4	847	4	C13orf23	13	39587390	Missense_Mutation	SNP	T	TCGA-25-1329-01A-01W-0492-08		39587390	75582488	28	16297											
ANGEL1	23357	broad.mit.edu	37	14	77275692	77275692	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr14:77275692G>A	ENST00000251089.2	-	2	471	c.359C>T	c.(358-360)gCa>gTa	p.A120V	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	120								p.A120V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CAGGTTCTCTGCAGCCCGAAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	14											45	47	46					14																	77275692		2203	4300	6503	76345445	SO:0001583	missense	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.359C>T	14.37:g.77275692G>A	ENSP00000251089:p.Ala120Val		76345445	B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047111	0.36085	.	.	ENSG00000013523	ENST00000251089	T	0.23348	1.91	5.36	2.49	0.30216	.	0.583978	0.16738	N	0.201552	T	0.11707	0.0285	N	0.24115	0.695	0.09310	N	1	B;B	0.14438	0.01;0.0	B;B	0.12156	0.007;0.0	T	0.28299	-1.0048	10	0.10902	T	0.67	-0.0016	1.362	0.02194	0.2209:0.2839:0.3489:0.1464	.	120;120	B4DVG4;Q9UNK9	.;ANGE1_HUMAN	V	120	ENSP00000251089:A120V	ENSP00000251089:A120V	A	-	2	0	ANGEL1	76345445	0.169000	0.23002	0.975000	0.42487	0.751000	0.42716	1.104000	0.31074	0.633000	0.30452	0.655000	0.94253	GCA		0.597	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		A	77275692	G	A	77275692	3	1	297	1	0	0	0	0	1	0	0	0	608	1319	46	2	1689	2	ANGEL1	14	77275692	Missense_Mutation	SNP	G	TCGA-25-1329-01A-01W-0492-08		77275692	30073848	29	16298											
DIO3	1735	broad.mit.edu	37	14	102028297	102028297	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr14:102028297C>T	ENST00000510508.4	+	1	610	c.464C>T	c.(463-465)gCg>gTg	p.A155V	DIO3_ENST00000359323.3_Missense_Mutation_p.A129V|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	155					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)	p.A129V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CTCGACTACGCGCAAGGGAAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	14											33	38	36					14																	102028297		2063	4201	6264	101098050	SO:0001583	missense	1735			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.464C>T	14.37:g.102028297C>T	ENSP00000427336:p.Ala155Val		101098050	G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399371	0.42512	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.33865	1.39;1.39	3.51	2.61	0.31194	Thioredoxin-like fold (1);	0.102467	0.37577	U	0.002034	T	0.30448	0.0765	M	0.64997	1.995	0.28516	N	0.913323	P	0.38565	0.637	B	0.33620	0.167	T	0.14587	-1.0467	10	0.30078	T	0.28	.	10.1479	0.42776	0.0:0.8996:0.0:0.1004	.	129	P55073	IOD3_HUMAN	V	129;155	ENSP00000352273:A129V;ENSP00000427336:A155V	ENSP00000352273:A155V	A	+	2	0	DIO3;AL049836.1	101098050	0.988000	0.35896	0.512000	0.27736	0.983000	0.72400	2.452000	0.44961	0.680000	0.31366	0.462000	0.41574	GCG		0.627	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		T	102028297	C	T	102028297	3	4	297	1	0	0	0	0	1	0	0	0	4526	768	27	1	466	1	DIO3	14	102028297	Missense_Mutation	SNP	C	TCGA-25-1329-01A-01W-0492-08	24752605	102028297	5321243	30	16299											
SRL	6345	broad.mit.edu	37	16	4254547	4254547	+	Silent	SNP	G	G	A	rs186123843	byFrequency	TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr16:4254547G>A	ENST00000399609.3	-	2	162	c.150C>T	c.(148-150)tcC>tcT	p.S50S	SRL_ENST00000537996.1_Silent_p.S8S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	509	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S50S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGTAGTCATCGGATGGCTTGT	0.602													G|||	8	0.00159744	0	0	5008	,	,		17599	0.0069		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	16						G		0,3834		0,0,1917	127	126	126		150	-11.2	0	16		126	1,8239		0,1,4119	no	coding-synonymous	SRL	NM_001098814.1		0,1,6036	AA,AG,GG		0.0121,0.0,0.0083		50/474	4254547	1,12073	1917	4120	6037	4194548	SO:0001819	synonymous_variant	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.150C>T	16.37:g.4254547G>A			4194548		Silent	SNP	ENST00000399609.3	37	CCDS42113.1																																																																																				0.602	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		A	4254547	G	A	4254547	2	1	297	1	0	0	0	0	0	0	0	1	15152	1103	39	1		1	SRL	16	4254547	Silent	SNP	G	TCGA-25-1329-01A-01W-0492-08		4254547	86100206	31	16300											
TP53	7157	broad.mit.edu	37	17	7579547	7579547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	G	G	-	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr17:7579547delG	ENST00000269305.4	-	4	329	c.140delC	c.(139-141)ccgfs	p.P47fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P47fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P47fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.P47fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P47fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P47fs	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	47	Interaction with HRMT1L2.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in dbSNP:rs1800371). {ECO:0000269|Ref.12}.		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.0?(8)|p.P47fs*76(5)|p.P47fs*4(2)|p.P47L(2)|p.D48fs*55(1)|p.P13fs*18(1)|p.S46_D49delSPDD(1)|p.S33fs*23(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)	AATATCGTCCGGGGACAGCAT	0.597		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"	21	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Missense(2)|Deletion - In frame(1)	lung(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)|prostate(1)|liver(1)	17											171	169	169					17																	7579547		2203	4300	6503	7520272	SO:0001589	frameshift_variant	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.140delC	17.37:g.7579547delG	ENSP00000269305:p.Pro47fs		7520272	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579547	G	-	7579547	7	5	297	1	0	1	0	1	0	0	0	0	16381	1116	39	0	1162	0	TP53	17	7579547	Frame_Shift_Del	DEL	G	TCGA-25-1329-01A-01W-0492-08		7579547	73615663	32	16301											
MIB1	57534	broad.mit.edu	37	18	19395664	19395664	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr18:19395664T>G	ENST00000261537.6	+	11	1831	c.1567T>G	c.(1567-1569)Ttg>Gtg	p.L523V	SNORA73_ENST00000363107.1_RNA|MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	523					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L523V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TAGTGCTGATTTGAATGCTCG	0.418																																																1	Substitution - Missense(1)	ovary(1)	18											108	96	100					18																	19395664		2203	4300	6503	17649662	SO:0001583	missense	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1567T>G	18.37:g.19395664T>G	ENSP00000261537:p.Leu523Val		17649662	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.408031	0.25378	.	.	ENSG00000101752	ENST00000261537	T	0.63096	-0.02	4.91	-0.839	0.10759	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.46908	0.1417	N	0.02736	-0.51	0.48395	D	0.999644	P	0.44776	0.843	D	0.63957	0.92	T	0.45234	-0.9275	10	0.02654	T	1	-6.853	12.1078	0.53821	0.0:0.5745:0.0:0.4255	.	523	Q86YT6	MIB1_HUMAN	V	523	ENSP00000261537:L523V	ENSP00000261537:L523V	L	+	1	2	MIB1	17649662	0.926000	0.31397	0.965000	0.40720	0.833000	0.47200	0.035000	0.13797	-0.060000	0.13132	-0.250000	0.11733	TTG		0.418	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		G	19395664	T	G	19395664	3	3	297	1	0	0	0	0	1	0	0	0	9566	1838	64	5	1609	5	MIB1	18	19395664	Missense_Mutation	SNP	T	TCGA-25-1329-01A-01W-0492-08		19395664	58681584	33	16302											
CEACAM18	729767	broad.mit.edu	37	19	51983818	51983819	+	Frame_Shift_Del	DEL	AC	AC	-	rs374372954		TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	AC	AC	-	-	AC	AC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr19:51983818_51983819delAC	ENST00000396477.4	+	2	305_306	c.284_285delAC	c.(283-285)aacfs	p.N95fs	CEACAM18_ENST00000451626.1_Frame_Shift_Del_p.N156fs	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	95										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGAGAGTGAACAGAGAAGGCA	0.554																																																0			19																																								56675631	SO:0001589	frameshift_variant	729767					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.284_285delAC	19.37:g.51983818_51983819delAC	ENSP00000379738:p.Asn95fs		56675630	C9JN24	Frame_Shift_Del	DEL	ENST00000396477.4	37																																																																																					0.554	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			-	51983819	AC	-	51983818	7	5	297	1	0	1	0	1	0	0	0	0	3189	43	2	0	477	0	CEACAM18	19	51983818	Frame_Shift_Del	DEL	AC	TCGA-25-1329-01A-01W-0492-08		51983818	7145165	34	16303											
ATP9A	10079	broad.mit.edu	37	20	50224099	50224099	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1329-01A-01W-0492-08	TCGA-25-1329-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f73b35f8-ecc3-4203-a79c-d5dfa657c29a	acebe8bf-8bb2-4a42-8a1a-5e3859e3aa40	g.chr20:50224099A>C	ENST00000338821.5	-	26	3034	c.2770T>G	c.(2770-2772)Ttc>Gtc	p.F924V	ATP9A_ENST00000402822.1_Missense_Mutation_p.F803V|ATP9A_ENST00000311637.5_Missense_Mutation_p.F788V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	924					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F924V(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATATTAAGAATGTCTTGTAG	0.498																																																1	Substitution - Missense(1)	ovary(1)	20											89	68	75					20																	50224099		2203	4300	6503	49657506	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2770T>G	20.37:g.50224099A>C	ENSP00000342481:p.Phe924Val		49657506	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.758857	0.89843	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.78364	-1.17;-1.17;-1.17	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.90041	0.6890	M	0.92880	3.355	0.80722	D	1	D;D	0.58268	0.981;0.982	D;P	0.66351	0.943;0.755	D	0.92511	0.6016	10	0.87932	D	0	-36.5768	15.0446	0.71816	1.0:0.0:0.0:0.0	.	803;924	O75110-2;O75110	.;ATP9A_HUMAN	V	788;924;803	ENSP00000309086:F788V;ENSP00000342481:F924V;ENSP00000385875:F803V	ENSP00000309086:F788V	F	-	1	0	ATP9A	49657506	1.000000	0.71417	0.940000	0.37924	0.915000	0.54546	8.754000	0.91642	1.953000	0.56701	0.528000	0.53228	TTC		0.498	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		C	50224099	A	C	50224099	3	2	297	1	0	0	0	0	1	0	0	0	1198	101	4	5	385	5	ATP9A	20	50224099	Missense_Mutation	SNP	A	TCGA-25-1329-01A-01W-0492-08		50224099	12801421	35	16304											
VANGL2	57216	hgsc.bcm.edu	37	1	160390289	160390289	+	Missense_Mutation	SNP	G	G	A	rs61744131		TCGA-25-1623-01A-01W-0615-10	TCGA-25-1623-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	844d91ec-1c74-4196-9137-f3d1cf40e42c	8a3eade5-c006-4e4f-9fbf-12609f168839	g.chr1:160390289G>A	ENST00000368061.2	+	5	1363	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	VANGL2_ENST00000483408.1_Intron	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	297					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.V297I(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCAAGTCCGTCCTGGCCAA	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											164	128	140					1																	160390289		2203	4300	6503	158656913	SO:0001583	missense	57216			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.889G>A	1.37:g.160390289G>A	ENSP00000357040:p.Val297Ile		158656913	D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055833	0.36277	.	.	ENSG00000162738	ENST00000368061	T	0.79454	-1.27	4.91	3.99	0.46301	.	0.071013	0.64402	D	0.000020	T	0.31765	0.0807	N	0.02011	-0.69	0.35747	D	0.819151	B	0.13145	0.007	B	0.08055	0.003	T	0.13019	-1.0525	10	0.33940	T	0.23	-29.8543	8.7014	0.34327	0.1745:0.0:0.8255:0.0	rs61744131	297	Q9ULK5	VANG2_HUMAN	I	297	ENSP00000357040:V297I	ENSP00000357040:V297I	V	+	1	0	VANGL2	158656913	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.566000	0.53805	1.294000	0.44707	-0.291000	0.09656	GTC		0.587	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		A	160390289	G	A	160390289	3	1	298	1	0	0	0	0	1	0	0	0	17120	1145	40	1	903	1	VANGL2	1	160390289	Missense_Mutation	SNP	G	TCGA-25-1623-01A-01W-0615-10		160390289	88860332	1	16305											
POU5F1	5460	hgsc.bcm.edu	37	6	31133009	31133009	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1623-01A-01W-0615-10	TCGA-25-1623-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	844d91ec-1c74-4196-9137-f3d1cf40e42c	8a3eade5-c006-4e4f-9fbf-12609f168839	g.chr6:31133009C>G	ENST00000259915.8	-	4	784	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	POU5F1_ENST00000471529.2_Missense_Mutation_p.E42Q|POU5F1_ENST00000512818.1_Missense_Mutation_p.E42Q|POU5F1_ENST00000606567.1_Missense_Mutation_p.E68Q|POU5F1_ENST00000441888.3_Missense_Mutation_p.E42Q|POU5F1_ENST00000513407.1_Missense_Mutation_p.E42Q	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	238					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|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)	p.E238Q(1)	EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	ACTCGGTTCTCGATACTGGTT	0.557			T	EWSR1	sarcoma																																		Dom	yes		6	6p21.31	5460	"POU domain, class 5, transcription factor 1"		M	1	Substitution - Missense(1)	ovary(1)	6											52	33	40					6																	31133009		1511	2708	4219	31240988	SO:0001583	missense	5460			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"Homeoboxes / POU class"	9221	protein-coding gene	gene with protein product		164177	"POU domain class 5, transcription factor 1"	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.712G>C	6.37:g.31133009C>G	ENSP00000259915:p.Glu238Gln		31240988	A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	ENST00000259915.8	37	CCDS34391.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742410	0.89573	.	.	ENSG00000204531	ENST00000541552;ENST00000512818;ENST00000259915;ENST00000441888;ENST00000471529	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	6.05	5.18	0.71444	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000017	D	0.97907	0.9312	M	0.87971	2.92	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.978	D	0.98325	1.0530	10	0.54805	T	0.06	.	14.5442	0.68017	0.1476:0.8524:0.0:0.0	.	238;143	Q01860;D2IYK4	PO5F1_HUMAN;.	Q	143;42;238;42;42	ENSP00000425479:E42Q;ENSP00000259915:E238Q;ENSP00000389359:E42Q;ENSP00000425083:E42Q	ENSP00000259915:E238Q	E	-	1	0	POU5F1	31240988	1.000000	0.71417	0.904000	0.35570	0.960000	0.62799	7.313000	0.78978	1.557000	0.49525	0.637000	0.83480	GAG		0.557	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701		G	31133009	C	G	31133009	3	3	298	1	0	0	0	0	1	0	0	0	12281	893	31	3	378	3	POU5F1	6	31133009	Missense_Mutation	SNP	C	TCGA-25-1623-01A-01W-0615-10		31133009	139982058	2	16306											
SLC13A1	6561	hgsc.bcm.edu	37	7	122787229	122787229	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1623-01A-01W-0615-10	TCGA-25-1623-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	844d91ec-1c74-4196-9137-f3d1cf40e42c	8a3eade5-c006-4e4f-9fbf-12609f168839	g.chr7:122787229C>T	ENST00000194130.2	-	7	835	c.796G>A	c.(796-798)Gca>Aca	p.A266T	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	266					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.A266T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AAATACTCTGCAAAGATCAAG	0.388																																																1	Substitution - Missense(1)	ovary(1)	7											170	140	150					7																	122787229		2203	4300	6503	122574465	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.796G>A	7.37:g.122787229C>T	ENSP00000194130:p.Ala266Thr		122574465	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.939888	0.18281	.	.	ENSG00000081800	ENST00000194130	T	0.03004	4.08	4.85	-2.86	0.05717	.	0.573059	0.18413	N	0.141986	T	0.07683	0.0193	M	0.87180	2.865	0.80722	D	1	P;P	0.42584	0.784;0.784	P;P	0.47864	0.559;0.559	T	0.31724	-0.9933	10	0.18276	T	0.48	-14.3326	4.3488	0.11146	0.3745:0.4532:0.0:0.1723	.	266;266	A4D0X1;Q9BZW2	.;S13A1_HUMAN	T	266	ENSP00000194130:A266T	ENSP00000194130:A266T	A	-	1	0	SLC13A1	122574465	0.991000	0.36638	0.807000	0.32361	0.139000	0.21198	0.768000	0.26590	-1.121000	0.02949	-1.114000	0.02060	GCA		0.388	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		T	122787229	C	T	122787229	3	4	298	1	0	0	0	0	1	0	0	0	14394	710	25	2	1027	2	SLC13A1	7	122787229	Missense_Mutation	SNP	C	TCGA-25-1623-01A-01W-0615-10		122787229	36351434	3	16307											
PSD3	23362	hgsc.bcm.edu	37	8	18662068	18662068	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1623-01A-01W-0615-10	TCGA-25-1623-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	844d91ec-1c74-4196-9137-f3d1cf40e42c	8a3eade5-c006-4e4f-9fbf-12609f168839	g.chr8:18662068A>G	ENST00000327040.8	-	6	1976	c.1874T>C	c.(1873-1875)tTt>tCt	p.F625S	PSD3_ENST00000440756.2_Missense_Mutation_p.F625S|PSD3_ENST00000286485.8_Missense_Mutation_p.F91S|PSD3_ENST00000523619.1_Missense_Mutation_p.F560S	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	625	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.F91S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGTAAAATCAAAAAACTTCAG	0.348																																																1	Substitution - Missense(1)	ovary(1)	8											101	105	104					8																	18662068		2203	4300	6503	18706348	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1874T>C	8.37:g.18662068A>G	ENSP00000324127:p.Phe625Ser		18706348	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719204	0.89205	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000523619;ENST00000519851	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.90082	3.085	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84419	0.0570	10	0.87932	D	0	.	14.5927	0.68378	1.0:0.0:0.0:0.0	.	625;91	E9KL50;Q9NYI0-3	.;.	S	625;625;91;560;66	ENSP00000324127:F625S;ENSP00000401704:F625S;ENSP00000286485:F91S;ENSP00000430640:F560S;ENSP00000429069:F66S	ENSP00000286485:F91S	F	-	2	0	PSD3	18706348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.325000	0.90007	2.326000	0.78906	0.533000	0.62120	TTT		0.348	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		G	18662068	A	G	18662068	3	3	298	1	0	0	0	0	1	0	0	0	12651	14	1	4	1313	4	PSD3	8	18662068	Missense_Mutation	SNP	A	TCGA-25-1623-01A-01W-0615-10		18662068	127701954	4	16308											
POLB	5423	hgsc.bcm.edu	37	8	42206585	42206585	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1623-01A-01W-0615-10	TCGA-25-1623-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	844d91ec-1c74-4196-9137-f3d1cf40e42c	8a3eade5-c006-4e4f-9fbf-12609f168839	g.chr8:42206585G>A	ENST00000265421.4	+	4	408	c.238G>A	c.(238-240)Gga>Aga	p.G80R	POLB_ENST00000538005.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	80					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)	p.G80R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TTTAGCAACTGGAAAATTACG	0.318								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	ovary(1)	8											73	74	74					8																	42206585		2203	4300	6503	42325742	SO:0001583	missense	5423				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.238G>A	8.37:g.42206585G>A	ENSP00000265421:p.Gly80Arg		42325742	B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.168532|5.168532	0.94768|0.94768	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000265421;ENST00000518925|ENST00000521290	T;T|.	0.56776|.	0.44;0.44|.	6.06|6.06	6.06|6.06	0.98353|0.98353	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85999|.	0.5828|.	M|M	0.91872|0.91872	3.25|3.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|.	0.87937|.	0.2714|.	10|.	0.87932|.	D|.	0|.	-11.882|-11.882	18.134|18.134	0.89612|0.89612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	80;80|.	Q53EV2;P06746|.	.;DPOLB_HUMAN|.	R|X	80|10	ENSP00000265421:G80R;ENSP00000430784:G80R|.	ENSP00000265421:G80R|.	G|W	+|+	1|2	0|0	POLB|POLB	42325742|42325742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.881000|8.881000	0.92415|0.92415	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.318	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		A	42206585	G	A	42206585	3	1	298	1	0	0	0	0	1	0	0	0	12189	1349	47	2	252	2	POLB	8	42206585	Missense_Mutation	SNP	G	TCGA-25-1623-01A-01W-0615-10	23544517	42206585	104157437	5	16309											
C12orf10	60314	hgsc.bcm.edu	37	12	53693964	53693964	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1623-01A-01W-0615-10	TCGA-25-1623-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	844d91ec-1c74-4196-9137-f3d1cf40e42c	8a3eade5-c006-4e4f-9fbf-12609f168839	g.chr12:53693964G>A	ENST00000267103.5	+	2	299	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	C12orf10_ENST00000548632.1_Missense_Mutation_p.E59K|RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000549488.1_5'UTR	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	83					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E83K(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						CCGGGATCCCGAAAAACTCGC	0.597											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											77	63	67					12																	53693964		2203	4300	6503	51980231	SO:0001583	missense	60314			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.247G>A	12.37:g.53693964G>A	ENSP00000267103:p.Glu83Lys	994	51980231		Missense_Mutation	SNP	ENST00000267103.5	37	CCDS31810.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452540	0.43531	.	.	ENSG00000139637	ENST00000267103;ENST00000545214;ENST00000548632	T;T	0.44083	0.93;0.93	4.23	2.39	0.29439	.	0.551542	0.20207	N	0.096964	T	0.22666	0.0547	L	0.41632	1.29	0.20764	N	0.999855	P;B;B	0.38767	0.646;0.331;0.203	B;B;B	0.29785	0.053;0.065;0.107	T	0.10132	-1.0643	10	0.14656	T	0.56	-13.7002	4.3335	0.11075	0.2086:0.1894:0.6019:0.0	.	83;83;83	B4DE37;F5H641;Q9HB07	.;.;MYG1_HUMAN	K	83;83;59	ENSP00000267103:E83K;ENSP00000450270:E59K	ENSP00000267103:E83K	E	+	1	0	C12orf10	51980231	0.040000	0.19996	0.217000	0.23759	0.991000	0.79684	1.005000	0.29834	0.554000	0.29061	0.561000	0.74099	GAA		0.597	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		A	53693964	G	A	53693964	3	1	298	1	0	0	0	0	1	0	0	0	1674	1059	37	1	253	1	C12orf10	12	53693964	Missense_Mutation	SNP	G	TCGA-25-1623-01A-01W-0615-10		53693964	80157931	6	16310											
NR1H4	9971	hgsc.bcm.edu	37	12	100930826	100930826	+	Splice_Site	SNP	G	G	A			TCGA-25-1623-01A-01W-0615-10	TCGA-25-1623-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	844d91ec-1c74-4196-9137-f3d1cf40e42c	8a3eade5-c006-4e4f-9fbf-12609f168839	g.chr12:100930826G>A	ENST00000551379.1	+	6	989		c.e6+1		NR1H4_ENST00000392986.3_Splice_Site|NR1H4_ENST00000548884.1_Splice_Site|NR1H4_ENST00000188403.7_Splice_Site|NR1H4_ENST00000549996.1_Splice_Site			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4						bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AAGCTACCAGGTATTTTTTAa	0.284																																																1	Unknown(1)	ovary(1)	12											50	60	56					12																	100930826		2178	4275	6453	99454957	SO:0001630	splice_region_variant	9971			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.961+1G>A	12.37:g.100930826G>A			99454957	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Splice_Site	SNP	ENST00000551379.1	37	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256626	0.59321	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1305	0.89599	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NR1H4	99454957	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.088000	0.94132	2.318000	0.78349	0.585000	0.79938	.		0.284	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123	Intron	A	100930826	G	A	100930826	5	1	298	1	0	0	0	0	0	0	1	0	10619	1275	44	2	942	2	NR1H4	12	100930826	Splice_Site	SNP	G	TCGA-25-1623-01A-01W-0615-10	47236862	100930826	32921069	7	16311											
TP53	7157	hgsc.bcm.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-25-1623-01A-01W-0615-10	TCGA-25-1623-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	844d91ec-1c74-4196-9137-f3d1cf40e42c	8a3eade5-c006-4e4f-9fbf-12609f168839	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	17	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	7517819	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		7517819	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	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	298	1	0	0	0	0	1	0	0	0	16381	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-25-1623-01A-01W-0615-10		7577094	73618116	8	16312											
EZH1	2145	hgsc.bcm.edu	37	17	40854913	40854913	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1623-01A-01W-0615-10	TCGA-25-1623-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	844d91ec-1c74-4196-9137-f3d1cf40e42c	8a3eade5-c006-4e4f-9fbf-12609f168839	g.chr17:40854913T>A	ENST00000428826.2	-	20	2286	c.2165A>T	c.(2164-2166)gAg>gTg	p.E722V	EZH1_ENST00000415827.2_Missense_Mutation_p.E713V|EZH1_ENST00000590078.1_Missense_Mutation_p.E652V|EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000592743.1_Missense_Mutation_p.E722V|EZH1_ENST00000435174.1_Missense_Mutation_p.E583V|EZH1_ENST00000585893.1_Missense_Mutation_p.E682V			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	722	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.			VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.E722V(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AAAGAAGAGCTCTTCGCCAGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	17											186	179	181					17																	40854913		2203	4300	6503	38108439	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.2165A>T	17.37:g.40854913T>A	ENSP00000404658:p.Glu722Val		38108439	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.891453	0.91889	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.94758	-3.51;-3.51	5.38	5.38	0.77491	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.98570	0.9522	H	0.99156	4.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.998;0.997;0.997	D	0.99686	1.1000	10	0.87932	D	0	.	15.5602	0.76237	0.0:0.0:0.0:1.0	.	583;682;728;722	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	V	725;722;682;583	ENSP00000404658:E722V;ENSP00000404071:E583V	ENSP00000264646:E725V	E	-	2	0	EZH1	38108439	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.868000	0.87116	2.263000	0.75096	0.379000	0.24179	GAG		0.512	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		A	40854913	T	A	40854913	3	1	298	1	0	0	0	0	1	0	0	0	5333	1551	54	5	86	5	EZH1	17	40854913	Missense_Mutation	SNP	T	TCGA-25-1623-01A-01W-0615-10	33277819	40854913	40340297	9	16313											
AMPD2	271	hgsc.bcm.edu	37	1	110168805	110168805	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr1:110168805G>A	ENST00000256578.3	+	4	899	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.R62Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.R99Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.R105Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.R180Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.R61Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	180					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.R99Q(1)|p.R180Q(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCTGCTTCGGGCCAAGCAA	0.637																																																2	Substitution - Missense(2)	ovary(2)	1											68	55	59					1																	110168805		2203	4300	6503	109970328	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.539G>A	1.37:g.110168805G>A	ENSP00000256578:p.Arg180Gln		109970328	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620824	0.96660	.	.	ENSG00000116337	ENST00000531734;ENST00000342115;ENST00000528667;ENST00000531203;ENST00000256578;ENST00000358729;ENST00000527846;ENST00000528454;ENST00000393688	D;D;D;T;T;D	0.86562	-2.06;-2.14;-2.14;1.26;1.26;-2.01	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89708	0.6793	L	0.50333	1.59	0.45621	D	0.998552	D;D;D;D	0.76494	0.998;0.999;0.982;0.979	D;P;P;P	0.72982	0.979;0.781;0.543;0.492	D	0.88518	0.3094	10	0.37606	T	0.19	-31.0641	18.0711	0.89407	0.0:0.0:1.0:0.0	.	105;61;180;99	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	Q	99;99;180;62;180;105;147;62;61	ENSP00000345498:R99Q;ENSP00000436541:R180Q;ENSP00000256578:R180Q;ENSP00000351573:R105Q;ENSP00000437164:R62Q;ENSP00000377292:R61Q	ENSP00000256578:R180Q	R	+	2	0	AMPD2	109970328	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.532000	0.98057	2.337000	0.79520	0.462000	0.41574	CGG		0.637	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			A	110168805	G	A	110168805	3	1	299	1	0	0	0	0	1	0	0	0	586	1116	39	1	594	1	AMPD2	1	110168805	Missense_Mutation	SNP	G	TCGA-25-1625-01A-01W-0615-10		110168805	139081816	1	16314											
ADAMTS4	9507	hgsc.bcm.edu	37	1	161161089	161161089	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr1:161161089C>G	ENST00000367996.5	-	9	2781	c.2353G>C	c.(2353-2355)Gtc>Ctc	p.V785L	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	785	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.V785L(1)|p.V785F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GCCACTAGGACTTGCAGTGTC	0.657																																																2	Substitution - Missense(2)	ovary(2)	1											62	49	54					1																	161161089		2203	4300	6503	159427713	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2353G>C	1.37:g.161161089C>G	ENSP00000356975:p.Val785Leu		159427713	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660975	0.47572	.	.	ENSG00000158859	ENST00000367996	T	0.56103	0.48	4.42	4.42	0.53409	ADAM-TS Spacer 1 (1);	0.282688	0.26297	N	0.025200	T	0.32912	0.0845	L	0.34521	1.04	0.80722	D	1	B	0.21071	0.051	B	0.31869	0.137	T	0.16571	-1.0398	10	0.33141	T	0.24	.	16.3084	0.82859	0.0:1.0:0.0:0.0	.	785	O75173	ATS4_HUMAN	L	785	ENSP00000356975:V785L	ENSP00000356975:V785L	V	-	1	0	ADAMTS4	159427713	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.577000	0.67444	2.438000	0.82558	0.561000	0.74099	GTC		0.657	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		G	161161089	C	G	161161089	3	3	299	1	0	0	0	0	1	0	0	0	268	565	20	3	164	3	ADAMTS4	1	161161089	Missense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10	50992284	161161089	88089532	2	16315											
OTOF	9381	hgsc.bcm.edu	37	2	26683564	26683564	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr2:26683564T>C	ENST00000272371.2	-	45	5890	c.5764A>G	c.(5764-5766)Aac>Gac	p.N1922D	OTOF_ENST00000402415.3_Missense_Mutation_p.N1232D|OTOF_ENST00000403946.3_Missense_Mutation_p.N1922D|OTOF_ENST00000339598.3_Missense_Mutation_p.N1155D|OTOF_ENST00000338581.6_Missense_Mutation_p.N1155D	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1922					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.N1922D(1)|p.N1155D(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACTGGGTTCTTCTCTGCC	0.642																																					GBM(102;732 1451 20652 24062 31372)											2	Substitution - Missense(2)	ovary(2)	2											60	63	62					2																	26683564		2203	4300	6503	26537068	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5764A>G	2.37:g.26683564T>C	ENSP00000272371:p.Asn1922Asp		26537068	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	t	15.88	2.964764	0.53507	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946;ENST00000361394	T;T;T;T;T	0.80393	-1.11;-1.11;-1.09;-1.36;-1.37	5.24	5.24	0.73138	.	0.201278	0.52532	D	0.000063	T	0.75824	0.3902	M	0.68952	2.095	0.34764	D	0.733034	P;B;B;B	0.37914	0.611;0.12;0.086;0.12	B;B;B;B	0.35727	0.118;0.209;0.031;0.209	T	0.79396	-0.1821	10	0.21540	T	0.41	-27.0864	10.8984	0.47036	0.1407:0.0:0.0:0.8593	.	1922;1155;1232;1155	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	D	1155;1155;1232;1922;1922;5	ENSP00000345137:N1155D;ENSP00000344521:N1155D;ENSP00000383906:N1232D;ENSP00000272371:N1922D;ENSP00000385255:N1922D	ENSP00000272371:N1922D	N	-	1	0	OTOF	26537068	1.000000	0.71417	0.989000	0.46669	0.724000	0.41520	2.773000	0.47686	1.975000	0.57531	0.375000	0.23000	AAC		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			C	26683564	T	C	26683564	3	2	299	1	0	0	0	0	1	0	0	0	11303	1783	62	4	422	4	OTOF	2	26683564	Missense_Mutation	SNP	T	TCGA-25-1625-01A-01W-0615-10		26683564	216515809	3	16316											
OTOF	9381	hgsc.bcm.edu	37	2	26683749	26683749	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr2:26683749G>A	ENST00000272371.2	-	44	5809	c.5683C>T	c.(5683-5685)Cgc>Tgc	p.R1895C	OTOF_ENST00000402415.3_Missense_Mutation_p.R1205C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1895C|OTOF_ENST00000339598.3_Missense_Mutation_p.R1128C|OTOF_ENST00000338581.6_Missense_Mutation_p.R1128C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1895					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.R1895C(1)|p.R1128C(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCATTGCGGGCCAGGAGG	0.647																																					GBM(102;732 1451 20652 24062 31372)											2	Substitution - Missense(2)	ovary(2)	2											84	70	75					2																	26683749		2203	4300	6503	26537253	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5683C>T	2.37:g.26683749G>A	ENSP00000272371:p.Arg1895Cys		26537253	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.390805	0.82902	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80738	-1.16;-1.16;-1.15;-1.41;-1.41	4.73	4.73	0.59995	C2 calcium/lipid-binding domain, CaLB (1);	0.057984	0.64402	D	0.000003	D	0.86058	0.5842	M	0.67953	2.075	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.973;0.999;0.987	P;P;P;P	0.62184	0.855;0.781;0.899;0.781	D	0.86773	0.1974	10	0.56958	D	0.05	-16.6433	11.7171	0.51659	0.0:0.0:0.7054:0.2946	.	1895;1128;1205;1128	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	1128;1128;1205;1895;1895	ENSP00000345137:R1128C;ENSP00000344521:R1128C;ENSP00000383906:R1205C;ENSP00000272371:R1895C;ENSP00000385255:R1895C	ENSP00000272371:R1895C	R	-	1	0	OTOF	26537253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.528000	0.53524	2.180000	0.69256	0.457000	0.33378	CGC		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26683749	G	A	26683749	3	1	299	1	0	0	0	0	1	0	0	0	11303	1116	39	1	507	1	OTOF	2	26683749	Missense_Mutation	SNP	G	TCGA-25-1625-01A-01W-0615-10	185	26683749	216515624	4	16317											
COL6A3	1293	hgsc.bcm.edu	37	2	238249614	238249614	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr2:238249614G>C	ENST00000295550.4	-	38	8397	c.7945C>G	c.(7945-7947)Ctg>Gtg	p.L2649V	COL6A3_ENST00000347401.3_Missense_Mutation_p.L2448V|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2443V|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2449V|COL6A3_ENST00000472056.1_Missense_Mutation_p.L2042V|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2443V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2649	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L2649V(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCATGTCCAGTTGTCTGACC	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											146	134	138					2																	238249614		2203	4300	6503	237914353	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7945C>G	2.37:g.238249614G>C	ENSP00000295550:p.Leu2649Val		237914353	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546232	0.27652	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.05	5.05	0.67936	von Willebrand factor, type A (3);	0.166790	0.28209	N	0.016197	D	0.91136	0.7209	M	0.71581	2.175	0.44745	D	0.997742	D;D;D	0.76494	0.984;0.98;0.999	P;P;D	0.79108	0.847;0.762;0.992	D	0.89313	0.3634	10	0.33940	T	0.23	.	8.8096	0.34959	0.0768:0.0:0.7732:0.15	.	2042;2443;2649	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	2649;2448;2443;2042;2443;2449	ENSP00000295550:L2649V;ENSP00000315609:L2448V;ENSP00000315873:L2443V;ENSP00000418285:L2042V;ENSP00000386844:L2443V;ENSP00000295546:L2449V	ENSP00000295550:L2649V	L	-	1	2	COL6A3	237914353	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.271000	0.43364	2.478000	0.83669	0.655000	0.94253	CTG		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238249614	G	C	238249614	3	2	299	1	0	0	0	0	1	0	0	0	3701	1020	36	3	1616	3	COL6A3	2	238249614	Missense_Mutation	SNP	G	TCGA-25-1625-01A-01W-0615-10	211565865	238249614	4949759	5	16318											
SLC4A7	9497	hgsc.bcm.edu	37	3	27498166	27498166	+	Silent	SNP	T	T	C			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr3:27498166T>C	ENST00000295736.5	-	1	79	c.9A>G	c.(7-9)agA>agG	p.R3R	SLC4A7_ENST00000454389.1_Intron|SLC4A7_ENST00000446700.1_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000428386.1_Silent_p.R3R|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000440156.1_Intron|SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000445684.1_Intron|SLC4A7_ENST00000455077.1_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	3					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R3R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCAGACGAAATCTTTCCATAG	0.348																																																1	Substitution - coding silent(1)	ovary(1)	3											130	129	130					3																	27498166		2202	4300	6502	27473170	SO:0001819	synonymous_variant	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.9A>G	3.37:g.27498166T>C			27473170	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	CCDS33721.1																																																																																				0.348	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		C	27498166	T	C	27498166	2	2	299	1	0	0	0	0	0	0	0	1	14661	1432	50	4		4	SLC4A7	3	27498166	Silent	SNP	T	TCGA-25-1625-01A-01W-0615-10		27498166	170524264	6	16319											
CADPS	8618	hgsc.bcm.edu	37	3	62478010	62478010	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr3:62478010T>G	ENST00000383710.4	-	20	3188	c.2839A>C	c.(2839-2841)Agt>Cgt	p.S947R	CADPS_ENST00000357948.3_Missense_Mutation_p.S917R|CADPS_ENST00000283269.9_Missense_Mutation_p.S957R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	947	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.S957R(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTGGAAAACTGTCCCATGTG	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											281	274	276					3																	62478010		2203	4300	6503	62453050	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2839A>C	3.37:g.62478010T>G	ENSP00000373215:p.Ser947Arg		62453050	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.50|19.50	3.838727|3.838727	0.71373|0.71373	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000491424|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.33216	.|1.42;1.42;1.42	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Munc13 homology 1 (1);	.|0.080798	.|0.85682	.|D	.|0.000000	T|T	0.60051|0.60051	0.2239|0.2239	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D;P;P	.|0.89917	.|1.0;0.985;0.855;0.951	.|D;P;B;P	.|0.91635	.|0.999;0.827;0.36;0.845	T|T	0.64360|0.64360	-0.6426|-0.6426	5|10	.|0.87932	.|D	.|0	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|917;957;947;947	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	P|R	249|947;947;917;957	.|ENSP00000373215:S947R;ENSP00000350632:S917R;ENSP00000283269:S957R	.|ENSP00000283269:S957R	Q|S	-|-	2|1	0|0	CADPS|CADPS	62453050|62453050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.289000|6.289000	0.72696|0.72696	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.443	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		G	62478010	T	G	62478010	3	3	299	1	0	0	0	0	1	0	0	0	2570	1580	55	5	1266	5	CADPS	3	62478010	Missense_Mutation	SNP	T	TCGA-25-1625-01A-01W-0615-10	34979844	62478010	135544420	7	16320											
C3orf59	151963	hgsc.bcm.edu	37	3	192517164	192517164	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr3:192517164C>G	ENST00000392452.2	-	2	807	c.487G>C	c.(487-489)Gac>Cac	p.D163H		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	163							protein complex binding (GO:0032403)	p.D161H(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GTGCAGCAGTCTTTCCATTTA	0.498																																																1	Substitution - Missense(1)	ovary(1)	3											85	84	85					3																	192517164		2203	4300	6503	193999858	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.487G>C	3.37:g.192517164C>G	ENSP00000376246:p.Asp163His		193999858	Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061675	0.76187	.	.	ENSG00000180611	ENST00000392452	T	0.08807	3.05	5.63	5.63	0.86233	.	0.198320	0.51477	D	0.000089	T	0.23492	0.0568	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.58520	0.84	T	0.00056	-1.2177	10	0.62326	D	0.03	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	163	Q8IYB1	M21D2_HUMAN	H	163	ENSP00000376246:D163H	ENSP00000376246:D163H	D	-	1	0	MB21D2	193999858	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.652000	0.90054	0.655000	0.94253	GAC		0.498	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		G	192517164	C	G	192517164	3	3	299	1	0	0	0	0	1	0	0	0	2237	913	32	3	992	3	C3orf59	3	192517164	Missense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10	130039154	192517164	5505266	8	16321											
KIT	3815	hgsc.bcm.edu	37	4	55593644	55593644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr4:55593644C>A	ENST00000288135.5	+	11	1807	c.1710C>A	c.(1708-1710)taC>taA	p.Y570*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	570	Important for interaction with phosphotyrosine-binding proteins.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y570_L576del(9)|p.V560_L576del(4)|p.Y553_T574>S(3)|p.V555_I571del(3)|p.V555_P573del(3)|p.I563_L576del(2)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.N564_Y578del(2)|p.W557_Q575del(2)|p.N564_L576del(2)|p.Y568_T574del(2)|p.Y568_L576>CV(1)|p.I563_D572del(1)|p.E562_P573del(1)|p.N564_T574del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V569_D572del(1)|p.V555_Y570del(1)|p.V569_L576del(1)|p.M552_T574>TESA(1)|p.Q556_T574del(1)|p.Q556_D572>PS(1)|p.E561_P577del(1)|p.Y570*(1)|p.Q556_D572del(1)|p.N564_P573>T(1)|p.V569_L576>G(1)|p.K558_L576>NV(1)|p.V559_P573>A(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.V569_Q575del(1)|p.N564_P577del(1)|p.V559_L576del(1)|p.K558_D572del(1)|p.Q556_D572>H(1)|p.N567_L576>E(1)|p.M552_D572del(1)|p.V559_I571del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.N567_P573del(1)|p.Y570_L576delYIDPTQL(1)|p.N564_P573>TS(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTATGTTTACATAGACCCAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	70	Deletion - In frame(54)|Complex - deletion inframe(15)|Substitution - Nonsense(1)	soft_tissue(67)|ovary(1)|testis(1)|skin(1)	4											79	79	79					4																	55593644		2203	4300	6503	55288401	SO:0001587	stop_gained	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1710C>A	4.37:g.55593644C>A	ENSP00000288135:p.Tyr570*		55288401	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Nonsense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	38	6.750295	0.97809	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	.	.	.	6.06	4.35	0.52113	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0296	0.42092	0.0:0.7961:0.0:0.2039	.	.	.	.	X	570;566	.	ENSP00000288135:Y570X	Y	+	3	2	KIT	55288401	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.016000	0.29976	0.907000	0.36646	-0.136000	0.14681	TAC		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55593644	C	A	55593644	4	1	299	1	0	0	0	0	0	1	0	0	8329	489	17	3	1752	3	KIT	4	55593644	Nonsense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10		55593644	135560632	9	16322											
TMPRSS11B	132724	hgsc.bcm.edu	37	4	69096980	69096980	+	Nonsense_Mutation	SNP	G	G	T	rs146528530	byFrequency	TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr4:69096980G>T	ENST00000332644.5	-	7	788	c.627C>A	c.(625-627)taC>taA	p.Y209*		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.Y209*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGGCTCCACAGTAGTGACGGC	0.478																																																1	Substitution - Nonsense(1)	ovary(1)	4											72	72	72					4																	69096980		2203	4300	6503	68779575	SO:0001587	stop_gained	132724			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.627C>A	4.37:g.69096980G>T	ENSP00000330475:p.Tyr209*		68779575	A8K4D9	Nonsense_Mutation	SNP	ENST00000332644.5	37	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578005	0.45902	.	.	ENSG00000185873	ENST00000332644	.	.	.	4.34	-1.8	0.07907	.	2.429920	0.02542	N	0.094715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.6321	0.02734	0.4376:0.1384:0.2829:0.1411	.	.	.	.	X	209	.	ENSP00000330475:Y209X	Y	-	3	2	TMPRSS11B	68779575	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.405000	0.07196	-0.594000	0.05836	-0.133000	0.14855	TAC		0.478	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		T	69096980	G	T	69096980	4	4	299	1	0	0	0	0	0	1	0	0	16240	1024	36	3	639	3	TMPRSS11B	4	69096980	Nonsense_Mutation	SNP	G	TCGA-25-1625-01A-01W-0615-10	13503336	69096980	122057296	10	16323											
NFKB1	4790	hgsc.bcm.edu	37	4	103505915	103505915	+	Missense_Mutation	SNP	G	G	A	rs143817570		TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr4:103505915G>A	ENST00000505458.1	+	11	1278	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	NFKB1_ENST00000600343.1_Missense_Mutation_p.R154Q|NFKB1_ENST00000226574.4_Missense_Mutation_p.R335Q|NFKB1_ENST00000394820.4_Missense_Mutation_p.R334Q			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	334	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R335Q(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GTCCAGCTTCGGAGGAAATCT	0.358																																																1	Substitution - Missense(1)	ovary(1)	4						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	63	67	65		1001,1004	5.8	1	4	dbSNP_134	65	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense	NFKB1	NM_001165412.1,NM_003998.3	43,43	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging	334/969,335/970	103505915	4,13002	2203	4300	6503	103724953	SO:0001583	missense	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1001G>A	4.37:g.103505915G>A	ENSP00000424790:p.Arg334Gln		103724953	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260394	0.95368	0.0	4.65E-4	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.8	5.8	0.92144	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.139939	0.47852	N	0.000202	T	0.54415	0.1857	L	0.35341	1.055	0.48087	D	0.999581	D;D;D	0.89917	1.0;1.0;0.993	D;P;B	0.65684	0.937;0.827;0.365	T	0.45411	-0.9263	10	0.35671	T	0.21	.	20.051	0.97627	0.0:0.0:1.0:0.0	.	154;334;335	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	Q	335;334;334;128	ENSP00000226574:R335Q;ENSP00000378297:R334Q;ENSP00000424790:R334Q;ENSP00000424815:R128Q	ENSP00000226574:R335Q	R	+	2	0	NFKB1	103724953	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.743000	0.68655	2.740000	0.93945	0.650000	0.86243	CGG		0.358	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			A	103505915	G	A	103505915	3	1	299	1	0	0	0	0	1	0	0	0	10375	1116	39	1	1042	1	NFKB1	4	103505915	Missense_Mutation	SNP	G	TCGA-25-1625-01A-01W-0615-10	34408935	103505915	87648361	11	16324											
SLIT3	6586	hgsc.bcm.edu	37	5	168111062	168111062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr5:168111062C>A	ENST00000519560.1	-	32	4014	c.3595G>T	c.(3595-3597)Gga>Tga	p.G1199*	SLIT3_ENST00000332966.8_Nonsense_Mutation_p.G1206*|SLIT3_ENST00000404867.3_Nonsense_Mutation_p.G1199*	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1199	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G1199*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTCTCCTTTGTAGAGA	0.587																																					Ovarian(29;311 847 10864 17279 24903)											1	Substitution - Nonsense(1)	ovary(1)	5											115	106	109					5																	168111062		2203	4300	6503	168043640	SO:0001587	stop_gained	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3595G>T	5.37:g.168111062C>A	ENSP00000430333:p.Gly1199*		168043640	A6H8U9|J3KNP3|O95804|Q9UFH5	Nonsense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	42	9.783968	0.99263	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	5.27	5.27	0.74061	.	0.096805	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9135	0.92494	0.0:1.0:0.0:0.0	.	.	.	.	X	1199;1206;1199	.	ENSP00000332164:G1206X	G	-	1	0	SLIT3	168043640	0.995000	0.38212	1.000000	0.80357	0.973000	0.67179	5.986000	0.70563	2.465000	0.83290	0.655000	0.94253	GGA		0.587	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		A	168111062	C	A	168111062	4	1	299	1	0	0	0	0	0	1	0	0	14744	690	24	3	996	3	SLIT3	5	168111062	Nonsense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10		168111062	12804198	12	16325											
OR2W1	26692	hgsc.bcm.edu	37	6	29012166	29012166	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr6:29012166C>A	ENST00000377175.1	-	1	851	c.787G>T	c.(787-789)Ggt>Tgt	p.G263C		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G263C(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCCCTGTTACCTGGTTGCAGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	6											138	114	123					6																	29012166		1511	2709	4220	29120145	SO:0001583	missense	26692			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"GPCR / Class A : Olfactory receptors"	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.787G>T	6.37:g.29012166C>A	ENSP00000366380:p.Gly263Cys		29120145	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812782	0.50527	.	.	ENSG00000204704	ENST00000377175	T	0.00115	8.71	4.79	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000082	T	0.00210	0.0006	M	0.83012	2.62	0.30591	N	0.761538	D	0.89917	1.0	D	0.97110	1.0	T	0.04723	-1.0931	10	0.72032	D	0.01	.	6.5136	0.22236	0.0:0.6115:0.2892:0.0993	.	263	Q9Y3N9	OR2W1_HUMAN	C	263	ENSP00000366380:G263C	ENSP00000366380:G263C	G	-	1	0	OR2W1	29120145	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	-1.445000	0.02401	2.175000	0.68902	0.591000	0.81541	GGT		0.438	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			A	29012166	C	A	29012166	3	1	299	1	0	0	0	0	1	0	0	0	11032	681	24	3	179	3	OR2W1	6	29012166	Missense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10		29012166	142102901	13	16326											
C6orf142	90523	hgsc.bcm.edu	37	6	54067033	54067033	+	Splice_Site	SNP	T	T	C			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr6:54067033T>C	ENST00000274897.5	+	10	1226		c.e10+2		MLIP_ENST00000370877.2_Splice_Site|MLIP_ENST00000514921.1_Splice_Site|MLIP_ENST00000509997.1_Splice_Site|MLIP_ENST00000370876.2_Splice_Site|MLIP_ENST00000502396.1_Splice_Site|MLIP_ENST00000358276.5_Splice_Site|MLIP_ENST00000511744.1_Splice_Site	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCTGAACAGGTGAGCACATAC	0.254																																																1	Unknown(1)	ovary(1)	6											71	70	70					6																	54067033		2203	4300	6503	54174992	SO:0001630	splice_region_variant	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1113+2T>C	6.37:g.54067033T>C			54174992	B7Z2N0|D6RE05|Q96H08|Q96NF7	Splice_Site	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111392	0.56398	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000502396;ENST00000358276;ENST00000514433	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2533	0.54610	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLIP	54174992	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	4.586000	0.60984	2.147000	0.66899	0.477000	0.44152	.		0.254	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	Intron	C	54067033	T	C	54067033	5	2	299	1	0	0	0	0	0	0	1	0	2333	1710	59	4	1153	4	C6orf142	6	54067033	Splice_Site	SNP	T	TCGA-25-1625-01A-01W-0615-10	25054867	54067033	117048034	14	16327											
COL9A1	1297	hgsc.bcm.edu	37	6	71003931	71003931	+	Missense_Mutation	SNP	A	A	G	rs141776183		TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr6:71003931A>G	ENST00000357250.6	-	5	793	c.635T>C	c.(634-636)aTt>aCt	p.I212T	COL9A1_ENST00000370496.3_Missense_Mutation_p.I212T	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	212	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.I212T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATCAATGTCAATTGGGCCTCT	0.413																																																1	Substitution - Missense(1)	ovary(1)	6						A	THR/ILE	0,4406		0,0,2203	123	119	121		635	5.8	0	6	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL9A1	NM_001851.4	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	212/922	71003931	1,13005	2203	4300	6503	71060652	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.635T>C	6.37:g.71003931A>G	ENSP00000349790:p.Ile212Thr		71060652	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054374	0.36277	0.0	1.16E-4	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.77750	4.26;-1.12	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.188102	0.45867	D	0.000321	T	0.77525	0.4143	M	0.75264	2.295	0.80722	D	1	P	0.41929	0.765	P	0.45712	0.491	T	0.81949	-0.0699	10	0.87932	D	0	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	212	P20849	CO9A1_HUMAN	T	212	ENSP00000349790:I212T;ENSP00000359527:I212T	ENSP00000349790:I212T	I	-	2	0	COL9A1	71060652	0.999000	0.42202	0.043000	0.18650	0.211000	0.24417	6.802000	0.75175	2.330000	0.79161	0.528000	0.53228	ATT		0.413	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			G	71003931	A	G	71003931	3	3	299	1	0	0	0	0	1	0	0	0	3707	101	4	4	2342	4	COL9A1	6	71003931	Missense_Mutation	SNP	A	TCGA-25-1625-01A-01W-0615-10	16936898	71003931	100111136	15	16328											
SAMD9L	219285	hgsc.bcm.edu	37	7	92763520	92763520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr7:92763520G>A	ENST00000318238.4	-	5	2981	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R589*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R589*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	589					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.R589*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTTCCATCGTTGATAAATA	0.358																																																1	Substitution - Nonsense(1)	ovary(1)	7											77	75	76					7																	92763520		2203	4298	6501	92601456	SO:0001587	stop_gained	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1765C>T	7.37:g.92763520G>A	ENSP00000326247:p.Arg589*		92601456	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	44	11.111365	0.99517	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.75	3.85	0.44370	.	0.727847	0.12233	N	0.487234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-3.5351	9.7496	0.40468	0.0:0.1534:0.6876:0.159	.	.	.	.	X	589	.	ENSP00000326247:R589X	R	-	1	2	SAMD9L	92601456	0.000000	0.05858	0.101000	0.21167	0.095000	0.18619	-0.331000	0.07914	1.194000	0.43101	0.467000	0.42956	CGA		0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		A	92763520	G	A	92763520	4	1	299	1	0	0	0	0	0	1	0	0	13830	1153	40	1	2993	1	SAMD9L	7	92763520	Nonsense_Mutation	SNP	G	TCGA-25-1625-01A-01W-0615-10		92763520	66375143	16	16329											
PREX2	80243	hgsc.bcm.edu	37	8	69005891	69005891	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr8:69005891C>A	ENST00000288368.4	+	21	2579	c.2302C>A	c.(2302-2304)Ctt>Att	p.L768I	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	768					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L768I(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCAAGAAGACCTTCAAAAATC	0.408																																																1	Substitution - Missense(1)	ovary(1)	8											116	117	116					8																	69005891		2203	4300	6503	69168445	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2302C>A	8.37:g.69005891C>A	ENSP00000288368:p.Leu768Ile		69168445	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818419	0.32145	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.35605	1.3	5.66	4.76	0.60689	.	0.214588	0.41500	N	0.000868	T	0.17619	0.0423	N	0.03115	-0.41	0.26568	N	0.973601	B;B;B	0.16802	0.019;0.0;0.001	B;B;B	0.12837	0.008;0.0;0.003	T	0.12889	-1.0530	10	0.22706	T	0.39	.	13.363	0.60667	0.2958:0.7042:0.0:0.0	.	768;768;768	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	I	768	ENSP00000288368:L768I	ENSP00000288368:L768I	L	+	1	0	PREX2	69168445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.710000	0.47169	1.325000	0.45301	0.650000	0.86243	CTT		0.408	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		A	69005891	C	A	69005891	3	1	299	1	0	0	0	0	1	0	0	0	12480	681	24	3	2384	3	PREX2	8	69005891	Missense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10		69005891	77358131	17	16330											
C10orf137	26098	hgsc.bcm.edu	37	10	127434285	127434285	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr10:127434285C>G	ENST00000356792.4	+	19	2832	c.2600C>G	c.(2599-2601)tCt>tGt	p.S867C	RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.S833C|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		867					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S833C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTGAGCAAATCTGTGTCTGCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	10											64	64	64					10																	127434285		2203	4300	6503	127424275	SO:0001583	missense	26098																														ENST00000356792.4:c.2600C>G	10.37:g.127434285C>G	ENSP00000349244:p.Ser867Cys		127424275	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129072	0.56721	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.76839	-1.05;-1.05	5.6	3.75	0.43078	Tetratricopeptide-like helical (1);	0.590086	0.18764	N	0.131804	T	0.72471	0.3464	N	0.19112	0.55	0.27355	N	0.956121	P;D;P	0.60575	0.911;0.988;0.82	P;P;P	0.52710	0.621;0.707;0.518	T	0.65788	-0.6083	10	0.62326	D	0.03	.	11.0863	0.48089	0.0879:0.5682:0.344:0.0	.	867;214;833	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	C	867;833	ENSP00000349244:S867C;ENSP00000336727:S833C	ENSP00000336727:S833C	S	+	2	0	C10orf137	127424275	0.828000	0.29307	0.997000	0.53966	0.983000	0.72400	1.319000	0.33655	0.721000	0.32231	0.655000	0.94253	TCT		0.418	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			G	127434285	C	G	127434285	3	3	299	1	0	0	0	0	1	0	0	0	1594	913	32	3	2568	3	C10orf137	10	127434285	Missense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10		127434285	8100462	18	16331											
KCTD14	65987	hgsc.bcm.edu	37	11	77727790	77727790	+	Missense_Mutation	SNP	G	G	A	rs182601195		TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr11:77727790G>A	ENST00000353172.5	-	2	661	c.617C>T	c.(616-618)gCg>gTg	p.A206V	KCTD14_ENST00000533144.1_Missense_Mutation_p.A176V|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	206					protein homooligomerization (GO:0051260)			p.A206V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GTCTAGGACCGCCTTCCAGGG	0.498													G|||	1	0.000199681	8e-04	0	5008	,	,		21732	0		0	False		,,,				2504	0				NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)											1	Substitution - Missense(1)	ovary(1)	11											149	136	140					11																	77727790		2200	4292	6492	77405438	SO:0001583	missense	65987			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.617C>T	11.37:g.77727790G>A	ENSP00000316482:p.Ala206Val		77405438	B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	CCDS8255.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.41	2.823903	0.50739	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.68624	-0.34;-0.31	4.36	2.01	0.26516	.	0.696895	0.13622	N	0.374326	T	0.73682	0.3618	M	0.81802	2.56	0.51767	D	0.999933	D	0.64830	0.994	P	0.51615	0.675	T	0.72414	-0.4301	10	0.59425	D	0.04	.	9.6431	0.39850	0.1351:0.0:0.8649:0.0	.	206	Q9BQ13	KCD14_HUMAN	V	206;176	ENSP00000316482:A206V;ENSP00000431155:A176V	ENSP00000316482:A206V	A	-	2	0	KCTD14	77405438	1.000000	0.71417	0.029000	0.17559	0.197000	0.23852	4.767000	0.62286	0.230000	0.21059	0.561000	0.74099	GCG		0.498	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		A	77727790	G	A	77727790	3	1	299	1	0	0	0	0	1	0	0	0	8101	1087	38	1	154	1	KCTD14	11	77727790	Missense_Mutation	SNP	G	TCGA-25-1625-01A-01W-0615-10		77727790	57278726	19	16332											
KCNJ1	3758	hgsc.bcm.edu	37	11	128709361	128709361	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr11:128709361A>T	ENST00000392664.2	-	2	951	c.835T>A	c.(835-837)Ttc>Atc	p.F279I	KCNJ1_ENST00000324036.3_Missense_Mutation_p.F260I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.F260I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F260I|KCNJ1_ENST00000392665.2_Missense_Mutation_p.F260I	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	279					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.F279I(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GCCATGTGGAAGAAAGGGCTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											76	75	75					11																	128709361		2201	4297	6498	128214571	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.835T>A	11.37:g.128709361A>T	ENSP00000376432:p.Phe279Ile		128214571	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574657	0.86542	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.153030	0.64402	D	0.000013	D	0.95928	0.8674	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.96458	0.9339	10	0.87932	D	0	.	15.8505	0.78927	1.0:0.0:0.0:0.0	.	279	P48048	IRK1_HUMAN	I	260;260;260;260;279	ENSP00000376433:F260I;ENSP00000376434:F260I;ENSP00000406320:F260I;ENSP00000316233:F260I;ENSP00000376432:F279I	ENSP00000316233:F260I	F	-	1	0	KCNJ1	128214571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.137000	0.66172	0.460000	0.39030	TTC		0.458	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		T	128709361	A	T	128709361	3	4	299	1	0	0	0	0	1	0	0	0	8043	72	3	5	344	5	KCNJ1	11	128709361	Missense_Mutation	SNP	A	TCGA-25-1625-01A-01W-0615-10	50981571	128709361	6297155	20	16333											
IPO5	3843	hgsc.bcm.edu	37	13	98652846	98652846	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr13:98652846G>T	ENST00000490680.1	+	10	1120	c.1055G>T	c.(1054-1056)gGa>gTa	p.G352V	IPO5_ENST00000539640.1_Missense_Mutation_p.G227V|IPO5_ENST00000261574.5_Missense_Mutation_p.G370V			O00410	IPO5_HUMAN	importin 5	352	Ran-GTP binding. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.G370V(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GGACTTGGTGGAAAGCTCGTT	0.418																																																1	Substitution - Missense(1)	ovary(1)	13											131	114	120					13																	98652846		2203	4300	6503	97450847	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1055G>T	13.37:g.98652846G>T	ENSP00000418393:p.Gly352Val		97450847	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.448274|5.448274	0.96205|0.96205	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.23754	.|1.89;1.89;1.89;1.89	5.99|5.99	5.99|5.99	0.97316|0.97316	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.63355	.|0.2504	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;1.0	.|T	.|0.69727	.|-0.5067	.|10	.|0.87932	.|D	.|0	-10.4637|-10.4637	20.4756|20.4756	0.99175|0.99175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|227;352;370	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	X|V	354|370;352;352;227	.|ENSP00000261574:G370V;ENSP00000350219:G352V;ENSP00000418393:G352V;ENSP00000445126:G227V	.|ENSP00000261574:G370V	E|G	+|+	1|2	0|0	IPO5|IPO5	97450847|97450847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.581000|9.581000	0.98210|0.98210	2.847000|2.847000	0.97988|0.97988	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.418	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		T	98652846	G	T	98652846	3	4	299	1	0	0	0	0	1	0	0	0	7796	1174	41	3	1151	3	IPO5	13	98652846	Missense_Mutation	SNP	G	TCGA-25-1625-01A-01W-0615-10		98652846	16517032	21	16334											
ANG	283	hgsc.bcm.edu	37	14	21161845	21161845	+	Missense_Mutation	SNP	A	A	T	rs121909536	byFrequency	TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr14:21161845A>T	ENST00000336811.6	+	2	722	c.122A>T	c.(121-123)aAa>aTa	p.K41I	RNASE4_ENST00000397995.2_Intron|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000555597.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.K41I|AL163636.6_ENST00000553909.1_Intron|RNASE4_ENST00000304704.4_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	41			K -> E (in ALS9; reduced ribonucleolytic activity). {ECO:0000269|PubMed:16501576}.|K -> I (in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; retains nuclear translocation). {ECO:0000269|PubMed:16501576, ECO:0000269|PubMed:17886298}.		actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)	p.K41I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TATGATGCCAAACCACAGGGC	0.532													A|||	2	0.000399361	0	0	5008	,	,		20327	0		0.001	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	14	GRCh37	CM060827	ANG	M	rs121909536	A	ILE/LYS,ILE/LYS,,	4,4402	6.2+/-15.9	0,4,2199	131	113	119	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	122,122,,	0.9	0	14	dbSNP_133	119	22,8578	16.0+/-53.3	0,22,4278	yes	missense,missense,intron,intron	ANG,RNASE4	NM_001097577.2,NM_001145.4,NM_002937.3,NM_194431.1	102,102,,	0,26,6477	TT,TA,AA		0.2558,0.0908,0.1999	benign,benign,,	41/148,41/148,,	21161845	26,12980	2203	4300	6503	20231685	SO:0001583	missense	283				CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"Ribonucleases, RNase A"	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.122A>T	14.37:g.21161845A>T	ENSP00000336762:p.Lys41Ile		20231685	Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Missense_Mutation	SNP	ENST00000336811.6	37	CCDS9554.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	5.580	0.291884	0.10567	9.08E-4	0.002558	ENSG00000214274	ENST00000336811;ENST00000397990	D;D	0.94931	-3.56;-3.56	4.57	0.913	0.19354	Ribonuclease A, domain (4);	0.653733	0.12095	U	0.500088	D	0.94745	0.8304	M	0.86178	2.8	0.09310	A	1.04007e-07	B	0.25521	0.128	B	0.39935	0.314	D	0.91419	0.5157	9	0.49607	T	0.09	.	5.4925	0.16785	0.6761:0.1493:0.1746:0.0	.	41	P03950	ANGI_HUMAN	I	41	ENSP00000336762:K41I;ENSP00000381077:K41I	ENSP00000336762:K41I	K	+	2	0	ANG	20231685	0.000000	0.05858	0.009000	0.14445	0.000000	0.00434	0.151000	0.16283	-0.267000	0.09325	-2.718000	0.00132	AAA		0.532	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073731.3	NM_001097577		T	21161845	A	T	21161845	3	4	299	1	0	0	0	0	1	0	0	0	607	14	1	5	124	5	ANG	14	21161845	Missense_Mutation	SNP	A	TCGA-25-1625-01A-01W-0615-10		21161845	86187695	22	16335											
HEXA	3073	hgsc.bcm.edu	37	15	72640437	72640437	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr15:72640437T>C	ENST00000268097.5	-	9	1528	c.1025A>G	c.(1024-1026)aAa>aGa	p.K342R	RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.K169R|HEXA_ENST00000567159.1_Missense_Mutation_p.K342R|HEXA_ENST00000566304.1_Missense_Mutation_p.K353R|HEXA_ENST00000457859.2_Missense_Mutation_p.K150R	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	342					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.K342R(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ACCGAAGCCTTTCTTCCTCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	15											81	79	80					15																	72640437		2199	4297	6496	70427491	SO:0001583	missense	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1025A>G	15.37:g.72640437T>C	ENSP00000268097:p.Lys342Arg		70427491	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997994	0.35226	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.95724	-3.79;-3.79;-3.79	5.31	4.12	0.48240	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.053048	0.64402	D	0.000001	D	0.89719	0.6796	L	0.29908	0.895	0.28585	N	0.90992	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.17979	0.003;0.02;0.003;0.001;0.005	T	0.78775	-0.2072	10	0.18710	T	0.47	-20.5291	8.1295	0.31018	0.2876:0.0:0.0:0.7124	.	169;353;169;222;342	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	R	342;150;169	ENSP00000268097:K342R;ENSP00000398026:K150R;ENSP00000416187:K169R	ENSP00000268097:K342R	K	-	2	0	HEXA	70427491	0.044000	0.20184	1.000000	0.80357	0.977000	0.68977	0.202000	0.17295	2.006000	0.58801	0.533000	0.62120	AAA		0.517	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		C	72640437	T	C	72640437	3	2	299	1	0	0	0	0	1	0	0	0	7073	1841	64	4	588	4	HEXA	15	72640437	Missense_Mutation	SNP	T	TCGA-25-1625-01A-01W-0615-10		72640437	29890955	23	16336											
MPI	4351	hgsc.bcm.edu	37	15	75188494	75188494	+	Splice_Site	SNP	G	G	A			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr15:75188494G>A	ENST00000352410.4	+	6	739	c.672G>A	c.(670-672)gcG>gcA	p.A224A	MPI_ENST00000566377.1_Splice_Site_p.A224A|MPI_ENST00000323744.6_Splice_Site_p.T163T|MPI_ENST00000535694.1_Splice_Site_p.A174A|MPI_ENST00000563786.1_Splice_Site_p.A204A|MPI_ENST00000562606.1_Splice_Site_p.A204A|MPI_ENST00000564003.1_Splice_Site_p.T113T|MPI_ENST00000563422.1_Splice_Site_p.A224A			P34949	MPI_HUMAN	mannose phosphate isomerase	224					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)	p.A224A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCCTCAGCGGCTGCCGGAA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	15											102	93	96					15																	75188494		2197	4295	6492	72975547	SO:0001630	splice_region_variant	4351				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.671-1G>A	15.37:g.75188494G>A			72975547	A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	CCDS10272.1																																																																																				0.557	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4		Silent	A	75188494	G	A	75188494	5	1	299	1	0	0	0	0	0	0	1	0	9729	1130	39	1	694	1	MPI	15	75188494	Splice_Site	SNP	G	TCGA-25-1625-01A-01W-0615-10	2548057	75188494	27342898	24	16337											
SRRM2	23524	hgsc.bcm.edu	37	16	2813120	2813120	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr16:2813120C>T	ENST00000301740.8	+	11	3140	c.2591C>T	c.(2590-2592)tCt>tTt	p.S864F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	864	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S864F(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AATGAGCAATCTGTAACGCCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	16											112	106	108					16																	2813120		2198	4300	6498	2753121	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2591C>T	16.37:g.2813120C>T	ENSP00000301740:p.Ser864Phe		2753121	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	7.638	0.680358	0.14907	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.27557	1.66	5.57	5.57	0.84162	.	0.304911	0.28983	N	0.013509	T	0.34861	0.0912	L	0.43923	1.385	0.29482	N	0.856252	P	0.37864	0.61	B	0.41988	0.372	T	0.35251	-0.9796	10	0.87932	D	0	-8.4816	17.0358	0.86474	0.0:1.0:0.0:0.0	.	864	Q9UQ35	SRRM2_HUMAN	F	864;864;116;829	ENSP00000301740:S864F	ENSP00000301740:S864F	S	+	2	0	SRRM2	2753121	0.469000	0.25846	0.531000	0.27976	0.307000	0.27823	3.000000	0.49481	2.628000	0.89032	0.650000	0.86243	TCT		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2813120	C	T	2813120	3	4	299	1	0	0	0	0	1	0	0	0	15171	913	32	2	2629	2	SRRM2	16	2813120	Missense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10		2813120	87541633	25	16338											
CES7	221223	hgsc.bcm.edu	37	16	55895428	55895428	+	Splice_Site	SNP	G	G	T			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr16:55895428G>T	ENST00000290567.9	-	7	932	c.811C>A	c.(811-813)Ctg>Atg	p.L271M	CES5A_ENST00000319165.9_Splice_Site_p.L271M|CES5A_ENST00000520435.1_Splice_Site_p.L241M|CES5A_ENST00000518005.1_Splice_Site_p.L165M|CES5A_ENST00000521992.1_Splice_Site_p.L300M|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	271						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.L271M(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACCACCTGCAGCTATTTTGTA	0.512																																																1	Substitution - Missense(1)	ovary(1)	16											47	42	44					16																	55895428		2198	4300	6498	54452929	SO:0001630	splice_region_variant	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.811-1C>A	16.37:g.55895428G>T			54452929	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201208	0.22121	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	3.99	2.91	0.33838	Carboxylesterase, type B (1);	0.434713	0.17193	N	0.183435	T	0.08891	0.0220	L	0.51422	1.61	0.28346	N	0.92113	P;P	0.36412	0.552;0.496	B;B	0.38428	0.273;0.178	T	0.12604	-1.0541	10	0.48119	T	0.1	.	5.761	0.18201	0.8757:0.0:0.1243:0.0	.	271;271	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	M	300;271;165;271;241;52	ENSP00000428864:L300M;ENSP00000324271:L271M;ENSP00000428571:L165M;ENSP00000290567:L271M;ENSP00000428887:L241M	ENSP00000290567:L271M	L	-	1	2	CES5A	54452929	0.954000	0.32549	1.000000	0.80357	0.033000	0.12548	-0.170000	0.09897	0.895000	0.36342	-0.498000	0.04607	CTG		0.512	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	Missense_Mutation	T	55895428	G	T	55895428	5	4	299	1	0	0	0	0	0	0	1	0	3272	985	34	3	944	3	CES7	16	55895428	Splice_Site	SNP	G	TCGA-25-1625-01A-01W-0615-10	53082308	55895428	34459325	26	16339											
NAE1	8883	hgsc.bcm.edu	37	16	66842915	66842915	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr16:66842915T>G	ENST00000290810.3	-	16	1311	c.1214A>C	c.(1213-1215)gAt>gCt	p.D405A	NAE1_ENST00000379463.2_Missense_Mutation_p.D399A|NAE1_ENST00000394074.2_Missense_Mutation_p.D316A|NAE1_ENST00000359087.4_Missense_Mutation_p.D408A			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	405					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.D405A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	GTTAATTGTATCCAAACCATA	0.308																																																1	Substitution - Missense(1)	ovary(1)	16											88	83	85					16																	66842915		2200	4300	6500	65400416	SO:0001583	missense	8883			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"Ubiquitin-like modifier activating enzymes"	621	protein-coding gene	gene with protein product		603385	"amyloid beta precursor protein binding protein 1, 59kDa"	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1214A>C	16.37:g.66842915T>G	ENSP00000290810:p.Asp405Ala		65400416	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377126	0.42105	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.14	5.14	0.70334	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.217835	0.45361	D	0.000361	T	0.24275	0.0588	N	0.11341	0.13	0.58432	D	0.999999	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.11329	0.0;0.006;0.0	T	0.08472	-1.0720	10	0.13108	T	0.6	-12.7033	14.6507	0.68794	0.0:0.0:0.0:1.0	.	408;405;399	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	A	408;405;399;316	ENSP00000351990:D408A;ENSP00000290810:D405A;ENSP00000368776:D399A;ENSP00000377637:D316A	ENSP00000290810:D405A	D	-	2	0	NAE1	65400416	1.000000	0.71417	0.976000	0.42696	0.882000	0.50991	5.892000	0.69790	1.938000	0.56188	0.528000	0.53228	GAT		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		G	66842915	T	G	66842915	3	3	299	1	0	0	0	0	1	0	0	0	10139	1435	50	5	410	5	NAE1	16	66842915	Missense_Mutation	SNP	T	TCGA-25-1625-01A-01W-0615-10	10947487	66842915	23511838	27	16340											
TP53	7157	hgsc.bcm.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000420246.2_Missense_Mutation_p.V216M	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	0.537		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"	113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(1)	17	GRCh37	CX952222	TP53	X							123	111	115					17																	7578203		2203	4300	6503	7518928	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.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met		7518928	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	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	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578203	C	T	7578203	3	4	299	1	0	0	0	0	1	0	0	0	16381	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10		7578203	73617007	28	16341											
BRCA1	672	hgsc.bcm.edu	37	17	41256234	41256234	+	Nonsense_Mutation	SNP	C	C	A	rs397509071		TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr17:41256234C>A	ENST00000357654.3	-	6	464	c.346G>T	c.(346-348)Gaa>Taa	p.E116*	BRCA1_ENST00000351666.3_Nonsense_Mutation_p.E116*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E116*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.E116*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.E116*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.E116*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E69*|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.E116*|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.E116*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	116					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E116*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTAGATGTTCAGGAGAGTTA	0.338			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Nonsense(1)	ovary(1)	17	GRCh37	CM023883	BRCA1	M							192	185	188					17																	41256234		2203	4300	6503	38509760	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.346G>T	17.37:g.41256234C>A	ENSP00000350283:p.Glu116*		38509760	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363700	0.95877	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777;ENST00000489037	.	.	.	5.32	5.32	0.75619	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3174	0.82932	0.0:1.0:0.0:0.0	.	.	.	.	X	116;116;116;116;116;116;116;69;116;69;116;116;32;69;32;116;90;116;116;90	.	ENSP00000246907:E116X	E	-	1	0	BRCA1	38509760	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	2.751000	0.47508	2.773000	0.95371	0.655000	0.94253	GAA		0.338	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41256234	C	A	41256234	4	1	299	1	0	0	0	0	0	1	0	0	1498	835	29	3	5387	3	BRCA1	17	41256234	Nonsense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10	33678031	41256234	39938976	29	16342											
FBN3	84467	hgsc.bcm.edu	37	19	8200925	8200925	+	Missense_Mutation	SNP	C	C	A	rs188383764	byFrequency	TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr19:8200925C>A	ENST00000600128.1	-	13	1925	c.1511G>T	c.(1510-1512)cGc>cTc	p.R504L	FBN3_ENST00000270509.2_Missense_Mutation_p.R504L|FBN3_ENST00000601739.1_Missense_Mutation_p.R504L			Q75N90	FBN3_HUMAN	fibrillin 3	504	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R504L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTTGACACAGCGGCCCAGGTG	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											58	46	50					19																	8200925		2203	4300	6503	8106925	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1511G>T	19.37:g.8200925C>A	ENSP00000470498:p.Arg504Leu		8106925	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.190003	0.58017	.	.	ENSG00000142449	ENST00000270509	D	0.91792	-2.91	4.35	0.997	0.19851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.059386	0.64402	U	0.000001	D	0.89280	0.6670	N	0.11756	0.17	0.36802	D	0.885418	D	0.76494	0.999	D	0.70716	0.97	D	0.86694	0.1925	10	0.37606	T	0.19	.	9.1522	0.36971	0.0:0.7598:0.0:0.2402	.	504	Q75N90	FBN3_HUMAN	L	504	ENSP00000270509:R504L	ENSP00000270509:R504L	R	-	2	0	FBN3	8106925	1.000000	0.71417	0.995000	0.50966	0.498000	0.33706	1.837000	0.39201	0.007000	0.14760	-0.768000	0.03414	CGC		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8200925	C	A	8200925	3	1	299	1	0	0	0	0	1	0	0	0	5704	768	27	3	7126	3	FBN3	19	8200925	Missense_Mutation	SNP	C	TCGA-25-1625-01A-01W-0615-10		8200925	50928058	30	16343											
ILVBL	10994	hgsc.bcm.edu	37	19	15228699	15228699	+	Silent	SNP	A	A	T			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chr19:15228699A>T	ENST00000263383.3	-	10	1318	c.1179T>A	c.(1177-1179)gcT>gcA	p.A393A	ILVBL_ENST00000534378.1_Silent_p.A286A|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	393						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.A393A(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCCTGCACAGCCTCCTGGG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	19											89	83	85					19																	15228699		2203	4300	6503	15089699	SO:0001819	synonymous_variant	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1179T>A	19.37:g.15228699A>T			15089699	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	CCDS12325.1																																																																																				0.557	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		T	15228699	A	T	15228699	2	4	299	1	0	0	0	0	0	0	0	1	7715	175	7	5		5	ILVBL	19	15228699	Silent	SNP	A	TCGA-25-1625-01A-01W-0615-10	7027774	15228699	43900284	31	16344											
RENBP	5973	hgsc.bcm.edu	37	X	153205628	153205628	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1625-01A-01W-0615-10	TCGA-25-1625-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	728c9111-63da-42cd-9421-28e3fed93669	8665d978-1853-4436-83d7-d686f11c2670	g.chrX:153205628A>G	ENST00000393700.3	-	9	1084	c.1004T>C	c.(1003-1005)aTg>aCg	p.M335T	RENBP_ENST00000369997.3_Missense_Mutation_p.M321T|RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	335					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.M335T(1)|p.M325T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	ACTGTAACCCATGAGGAAGGC	0.597																																																2	Substitution - Missense(2)	ovary(2)	X											132	92	106					X																	153205628		2203	4300	6503	152858822	SO:0001583	missense	5973				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.1004T>C	X.37:g.153205628A>G	ENSP00000377303:p.Met335Thr		152858822	B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	A	18.48	3.633427	0.67015	.	.	ENSG00000102032	ENST00000393700;ENST00000369997;ENST00000451114	T;T;T	0.28454	1.61;1.61;1.61	4.79	4.79	0.61399	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.043583	0.85682	D	0.000000	T	0.54886	0.1886	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.58607	-0.7607	10	0.52906	T	0.07	-26.0806	12.6466	0.56738	1.0:0.0:0.0:0.0	.	335	P51606	RENBP_HUMAN	T	335;321;14	ENSP00000377303:M335T;ENSP00000359014:M321T;ENSP00000409034:M14T	ENSP00000359014:M321T	M	-	2	0	RENBP	152858822	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	5.322000	0.65852	1.693000	0.51124	0.486000	0.48141	ATG		0.597	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		G	153205628	A	G	153205628	3	3	299	1	0	0	0	0	1	0	0	0	13228	217	8	4	291	4	RENBP	23	153205628	Missense_Mutation	SNP	A	TCGA-25-1625-01A-01W-0615-10		153205628	2064932	32	16345											
PSMB4	5692	hgsc.bcm.edu	37	1	151373047	151373047	+	Silent	SNP	C	C	G			TCGA-25-1626-01A-01W-0615-10	TCGA-25-1626-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8ebf167e-69fc-40aa-aed8-182dd0b7bb60	e0811465-f204-497e-8c47-4566e4f57281	g.chr1:151373047C>G	ENST00000290541.6	+	3	531	c.477C>G	c.(475-477)ggC>ggG	p.G159G		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	159					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)	p.G159G(1)		endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCATCGGAGGCTATGCTGATG	0.468																																																1	Substitution - coding silent(1)	ovary(1)	1											153	155	154					1																	151373047		2203	4300	6503	149639671	SO:0001819	synonymous_variant	5692			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.477C>G	1.37:g.151373047C>G			149639671	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Silent	SNP	ENST00000290541.6	37	CCDS996.1																																																																																				0.468	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		G	151373047	C	G	151373047	2	3	300	1	0	0	0	0	0	0	0	1	12682	784	28	3		3	PSMB4	1	151373047	Silent	SNP	C	TCGA-25-1626-01A-01W-0615-10		151373047	97877574	1	16346											
MDH1B	130752	hgsc.bcm.edu	37	2	207625682	207625682	+	Silent	SNP	T	T	C			TCGA-25-1626-01A-01W-0615-10	TCGA-25-1626-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	8ebf167e-69fc-40aa-aed8-182dd0b7bb60	e0811465-f204-497e-8c47-4566e4f57281	g.chr2:207625682T>C	ENST00000374412.3	-	2	353	c.78A>G	c.(76-78)caA>caG	p.Q26Q	MDH1B_ENST00000449792.1_Intron|MDH1B_ENST00000454776.2_Silent_p.Q26Q|MDH1B_ENST00000392214.2_Silent_p.Q26Q	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	26					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.Q26Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GAAGATTCTTTTGTAAATAGT	0.353																																					Pancreas(76;29 1355 28675 37177 51207)											1	Substitution - coding silent(1)	ovary(1)	2											142	145	144					2																	207625682		2203	4300	6503	207333927	SO:0001819	synonymous_variant	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.78A>G	2.37:g.207625682T>C			207333927	A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	CCDS33365.1																																																																																				0.353	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		C	207625682	T	C	207625682	2	2	300	1	0	0	0	0	0	0	0	1	9409	1838	64	4		4	MDH1B	2	207625682	Silent	SNP	T	TCGA-25-1626-01A-01W-0615-10		207625682	35573691	2	16347											
NIPBL	25836	hgsc.bcm.edu	37	5	37019429	37019429	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1626-01A-01W-0615-10	TCGA-25-1626-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8ebf167e-69fc-40aa-aed8-182dd0b7bb60	e0811465-f204-497e-8c47-4566e4f57281	g.chr5:37019429A>G	ENST00000282516.8	+	25	5436	c.4937A>G	c.(4936-4938)gAt>gGt	p.D1646G	NIPBL_ENST00000448238.2_Missense_Mutation_p.D1646G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1646					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.D1646G(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAGGGGAAGATGAAATCCAA	0.348																																																1	Substitution - Missense(1)	ovary(1)	5											95	92	93					5																	37019429		2203	4299	6502	37055186	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4937A>G	5.37:g.37019429A>G	ENSP00000282516:p.Asp1646Gly		37055186	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.523650	0.85600	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94613	-3.45;-3.47	5.55	5.55	0.83447	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	M	0.82630	2.6	0.58432	D	0.999999	D;D	0.69078	0.992;0.997	D;D	0.69142	0.918;0.962	D	0.97117	0.9808	10	0.48119	T	0.1	.	15.347	0.74346	1.0:0.0:0.0:0.0	.	1646;1646	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	G	1646	ENSP00000282516:D1646G;ENSP00000406266:D1646G	ENSP00000282516:D1646G	D	+	2	0	NIPBL	37055186	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.474000	0.90413	2.103000	0.63969	0.477000	0.44152	GAT		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	37019429	A	G	37019429	3	3	300	1	0	0	0	0	1	0	0	0	10428	333	12	4	5031	4	NIPBL	5	37019429	Missense_Mutation	SNP	A	TCGA-25-1626-01A-01W-0615-10		37019429	143895831	3	16348											
EXOC4	60412	hgsc.bcm.edu	37	7	133314819	133314819	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1626-01A-01W-0615-10	TCGA-25-1626-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8ebf167e-69fc-40aa-aed8-182dd0b7bb60	e0811465-f204-497e-8c47-4566e4f57281	g.chr7:133314819T>C	ENST00000253861.4	+	10	1468	c.1439T>C	c.(1438-1440)aTt>aCt	p.I480T	EXOC4_ENST00000545148.1_Missense_Mutation_p.I90T|EXOC4_ENST00000539845.1_Missense_Mutation_p.I379T|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	480					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.I480T(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GACAACTTAATTGAAGGTGGA	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											112	110	111					7																	133314819		2203	4300	6503	132965359	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1439T>C	7.37:g.133314819T>C	ENSP00000253861:p.Ile480Thr		132965359	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336620	0.41398	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	6.03	6.03	0.97812	.	0.055772	0.64402	D	0.000001	T	0.45094	0.1325	N	0.14661	0.345	0.80722	D	1	P;P;P	0.50528	0.936;0.639;0.808	P;B;B	0.50934	0.654;0.231;0.242	T	0.32981	-0.9886	9	0.13470	T	0.59	.	16.2196	0.82251	0.0:0.0:0.0:1.0	.	12;90;480	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	T	480;99;379;90	.	ENSP00000253861:I480T	I	+	2	0	EXOC4	132965359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.323000	0.79105	2.308000	0.77769	0.533000	0.62120	ATT		0.358	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		C	133314819	T	C	133314819	3	2	300	1	0	0	0	0	1	0	0	0	5306	1493	52	4	1486	4	EXOC4	7	133314819	Missense_Mutation	SNP	T	TCGA-25-1626-01A-01W-0615-10		133314819	25823844	4	16349											
LEMD3	23592	hgsc.bcm.edu	37	12	65634766	65634766	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1626-01A-01W-0615-10	TCGA-25-1626-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8ebf167e-69fc-40aa-aed8-182dd0b7bb60	e0811465-f204-497e-8c47-4566e4f57281	g.chr12:65634766G>A	ENST00000308330.2	+	9	2230	c.2204G>A	c.(2203-2205)cGa>cAa	p.R735Q		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	735	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.R735Q(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		ACGGAAACACGAAGAATAGGT	0.418																																																1	Substitution - Missense(1)	ovary(1)	12											136	124	128					12																	65634766		2203	4300	6503	63921033	SO:0001583	missense	23592			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2204G>A	12.37:g.65634766G>A	ENSP00000308369:p.Arg735Gln		63921033	Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	1.788	-0.480268	0.04383	.	.	ENSG00000174106	ENST00000308330	T	0.39997	1.05	5.3	4.4	0.53042	Inner nuclear membrane protein MAN1 (1);	0.134029	0.52532	N	0.000070	T	0.18923	0.0454	N	0.04090	-0.28	0.47905	D	0.999544	B	0.25390	0.125	B	0.18871	0.023	T	0.07366	-1.0776	9	.	.	.	-2.9089	10.3522	0.43943	0.1511:0.0:0.8489:0.0	.	735	Q9Y2U8	MAN1_HUMAN	Q	735	ENSP00000308369:R735Q	.	R	+	2	0	LEMD3	63921033	1.000000	0.71417	0.997000	0.53966	0.181000	0.23173	3.494000	0.53273	1.355000	0.45865	0.585000	0.79938	CGA		0.418	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			A	65634766	G	A	65634766	3	1	300	1	0	0	0	0	1	0	0	0	8721	1058	37	1	2238	1	LEMD3	12	65634766	Missense_Mutation	SNP	G	TCGA-25-1626-01A-01W-0615-10		65634766	68217129	5	16350											
TP53	7157	hgsc.bcm.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656|rs397516437		TCGA-25-1626-01A-01W-0615-10	TCGA-25-1626-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	8ebf167e-69fc-40aa-aed8-182dd0b7bb60	e0811465-f204-497e-8c47-4566e4f57281	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000574684.1_5'Flank	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	17	GRCh37	CM010464|CM900209	TP53	M	rs121912656						151	113	126					17																	7577547		2203	4300	6503	7518272	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.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val		7518272	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577547	C	A	7577547	3	1	300	1	0	0	0	0	1	0	0	0	16381	739	26	3	556	3	TP53	17	7577547	Missense_Mutation	SNP	C	TCGA-25-1626-01A-01W-0615-10		7577547	73617663	6	16351											
KIAA0195	9772	hgsc.bcm.edu	37	17	73491026	73491026	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1626-01A-01W-0615-10	TCGA-25-1626-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8ebf167e-69fc-40aa-aed8-182dd0b7bb60	e0811465-f204-497e-8c47-4566e4f57281	g.chr17:73491026C>G	ENST00000314256.7	+	20	3033	c.2639C>G	c.(2638-2640)tCc>tGc	p.S880C	KIAA0195_ENST00000579208.1_Missense_Mutation_p.S531C|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S890C|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	880						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S880C(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCACATCTCCCTCACACCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											77	82	81					17																	73491026		2203	4300	6503	71002621	SO:0001583	missense	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2639C>G	17.37:g.73491026C>G	ENSP00000313885:p.Ser880Cys		71002621	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821032	0.50633	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.72942	-0.7;-0.7	5.53	5.53	0.82687	.	0.054889	0.85682	D	0.000000	D	0.85720	0.5762	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	D	0.87132	0.2197	10	0.87932	D	0	-34.1084	19.462	0.94921	0.0:1.0:0.0:0.0	.	890;890;880	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	C	880;890	ENSP00000313885:S880C;ENSP00000364397:S890C	ENSP00000313885:S880C	S	+	2	0	KIAA0195	71002621	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.403000	0.79983	2.603000	0.88011	0.467000	0.42956	TCC		0.582	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		G	73491026	C	G	73491026	3	3	300	1	0	0	0	0	1	0	0	0	8160	855	30	3	2713	3	KIAA0195	17	73491026	Missense_Mutation	SNP	C	TCGA-25-1626-01A-01W-0615-10	65913479	73491026	7704184	7	16352											
DNASE2	1777	hgsc.bcm.edu	37	19	12986912	12986912	+	Silent	SNP	T	T	G			TCGA-25-1626-01A-01W-0615-10	TCGA-25-1626-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	8ebf167e-69fc-40aa-aed8-182dd0b7bb60	e0811465-f204-497e-8c47-4566e4f57281	g.chr19:12986912T>G	ENST00000222219.3	-	6	1067	c.975A>C	c.(973-975)acA>acC	p.T325T	DNASE2_ENST00000538460.1_Silent_p.T270T	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	325					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)	p.T325T(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GGGCACACAGTGTGCCCCCAC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	19											57	54	55					19																	12986912		2203	4300	6503	12847912	SO:0001819	synonymous_variant	1777			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.975A>C	19.37:g.12986912T>G			12847912	B2RD06|B7Z4K6|O43910	Silent	SNP	ENST00000222219.3	37	CCDS12284.1																																																																																				0.607	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			G	12986912	T	G	12986912	2	3	300	1	0	0	0	0	0	0	0	1	4664	1683	59	5		5	DNASE2	19	12986912	Silent	SNP	T	TCGA-25-1626-01A-01W-0615-10		12986912	46142071	8	16353											
RAD54L	8438	hgsc.bcm.edu	37	1	46715736	46715736	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr1:46715736G>A	ENST00000371975.4	+	3	829	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	RAD54L_ENST00000442598.1_Missense_Mutation_p.R52Q	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	52					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R52Q(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TCTCCTTTTCGGAAACCTTTG	0.488								Direct reversal of damage;Homologous recombination																																								1	Substitution - Missense(1)	ovary(1)	1											165	144	151					1																	46715736		2203	4300	6503	46488323	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.155G>A	1.37:g.46715736G>A	ENSP00000361043:p.Arg52Gln		46488323	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273127	0.95429	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.89123	-2.47;-2.47	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	D	0.93691	0.7007	10	0.72032	D	0.01	-13.4543	18.1282	0.89592	0.0:0.0:1.0:0.0	.	52	Q92698	RAD54_HUMAN	Q	52	ENSP00000396113:R52Q;ENSP00000361043:R52Q	ENSP00000361043:R52Q	R	+	2	0	RAD54L	46488323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.097000	0.76967	2.442000	0.82660	0.655000	0.94253	CGG		0.488	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		A	46715736	G	A	46715736	3	1	301	1	0	0	0	0	1	0	0	0	12996	1116	39	1	165	1	RAD54L	1	46715736	Missense_Mutation	SNP	G	TCGA-25-1627-01A-01W-0615-10		46715736	202534885	1	16354											
TTF2	8458	hgsc.bcm.edu	37	1	117635421	117635421	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr1:117635421G>C	ENST00000369466.4	+	18	2918	c.2874G>C	c.(2872-2874)ttG>ttC	p.L958F	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	958					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.L958F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAGTGCTTTGACCTTGTCAG	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											196	165	176					1																	117635421		2203	4300	6503	117436944	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2874G>C	1.37:g.117635421G>C	ENSP00000358478:p.Leu958Phe		117436944	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323437	0.60634	.	.	ENSG00000116830	ENST00000369466	D	0.88818	-2.43	5.06	4.12	0.48240	.	0.596324	0.12689	N	0.447316	D	0.90896	0.7139	M	0.68952	2.095	0.80722	D	1	D	0.65815	0.995	D	0.65443	0.935	D	0.89895	0.4040	10	0.66056	D	0.02	-2.6851	11.2337	0.48927	0.0:0.1845:0.8155:0.0	.	958	Q9UNY4	TTF2_HUMAN	F	958	ENSP00000358478:L958F	ENSP00000358478:L958F	L	+	3	2	TTF2	117436944	1.000000	0.71417	0.987000	0.45799	0.590000	0.36582	8.751000	0.91628	1.322000	0.45245	0.650000	0.86243	TTG		0.507	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			C	117635421	G	C	117635421	3	2	301	1	0	0	0	0	1	0	0	0	16719	1281	45	3	2944	3	TTF2	1	117635421	Missense_Mutation	SNP	G	TCGA-25-1627-01A-01W-0615-10	70919685	117635421	131615200	2	16355											
SEMA4A	64218	hgsc.bcm.edu	37	1	156131244	156131244	+	Silent	SNP	C	C	T			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr1:156131244C>T	ENST00000368285.3	+	9	1185	c.918C>T	c.(916-918)caC>caT	p.H306H	SEMA4A_ENST00000368284.1_Silent_p.H174H|SEMA4A_ENST00000355014.2_Silent_p.H306H|SEMA4A_ENST00000368286.2_Silent_p.H174H|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.H306H	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	306	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.H306H(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCATCCGCCACGCGGTCCTGC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	1											54	49	51					1																	156131244		2203	4300	6503	154397868	SO:0001819	synonymous_variant	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.918C>T	1.37:g.156131244C>T			154397868	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	CCDS1132.1																																																																																				0.652	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		T	156131244	C	T	156131244	2	4	301	1	0	0	0	0	0	0	0	1	14034	535	19	1		1	SEMA4A	1	156131244	Silent	SNP	C	TCGA-25-1627-01A-01W-0615-10	38495823	156131244	93119377	3	16356											
FAM5B	57795	hgsc.bcm.edu	37	1	177242709	177242709	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr1:177242709A>G	ENST00000361539.4	+	5	1067	c.755A>G	c.(754-756)gAg>gGg	p.E252G	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	252	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.E252G(1)									CAGAGTCCAGAGAACAAAGTA	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											77	69	72					1																	177242709		2203	4300	6503	175509332	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.755A>G	1.37:g.177242709A>G	ENSP00000354481:p.Glu252Gly		175509332	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831038	0.91036	.	.	ENSG00000198797	ENST00000361539	T	0.19669	2.13	5.39	5.39	0.77823	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.73217	2.22	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.78314	0.928;0.991	T	0.47368	-0.9123	10	0.72032	D	0.01	-23.1075	15.1035	0.72303	1.0:0.0:0.0:0.0	.	147;252	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	G	252	ENSP00000354481:E252G	ENSP00000354481:E252G	E	+	2	0	FAM5B	175509332	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.210000	0.95106	2.054000	0.61138	0.533000	0.62120	GAG		0.433	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		G	177242709	A	G	177242709	3	3	301	1	0	0	0	0	1	0	0	0	5593	304	11	4	769	4	FAM5B	1	177242709	Missense_Mutation	SNP	A	TCGA-25-1627-01A-01W-0615-10	21111465	177242709	72007912	4	16357											
HLX	3142	hgsc.bcm.edu	37	1	221057775	221057775	+	Missense_Mutation	SNP	G	G	A	rs371016648		TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr1:221057775G>A	ENST00000366903.6	+	4	2697	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	HLX_ENST00000549319.1_Missense_Mutation_p.R185H	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	399	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R399H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGGAGTGAGCGTTCTCTGCAC	0.652																																																1	Substitution - Missense(1)	ovary(1)	1						G	HIS/ARG	0,4406		0,0,2203	67	57	60		1196	0.5	0.1	1		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	HLX	NM_021958.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	399/489	221057775	1,13005	2203	4300	6503	219124398	SO:0001583	missense	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1196G>A	1.37:g.221057775G>A	ENSP00000355870:p.Arg399His		219124398	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003013	0.74932	0.0	1.16E-4	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;T;T	0.89939	-2.59;0.63;3.02	5.03	0.525	0.17072	.	0.275088	0.25747	N	0.028580	T	0.68613	0.3020	N	0.12182	0.205	0.22017	N	0.999418	P	0.49783	0.928	B	0.35312	0.2	T	0.66897	-0.5807	10	0.49607	T	0.09	-11.6882	1.2885	0.02055	0.1386:0.1777:0.3196:0.3641	.	399	Q14774	HLX_HUMAN	H	399;132;185	ENSP00000355870:R399H;ENSP00000408248:R132H;ENSP00000449882:R185H	ENSP00000355870:R399H	R	+	2	0	HLX	219124398	0.076000	0.21285	0.113000	0.21522	0.884000	0.51177	0.854000	0.27791	0.567000	0.29293	0.561000	0.74099	CGT		0.652	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		A	221057775	G	A	221057775	3	1	301	1	0	0	0	0	1	0	0	0	7216	1145	40	1	1210	1	HLX	1	221057775	Missense_Mutation	SNP	G	TCGA-25-1627-01A-01W-0615-10	43815066	221057775	28192846	5	16358											
TRIM58	25893	hgsc.bcm.edu	37	1	248039433	248039433	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr1:248039433C>A	ENST00000366481.3	+	6	1151	c.1103C>A	c.(1102-1104)cCa>cAa	p.P368Q	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	368	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P368Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GACACACTGCCAAGAAAGGGG	0.562																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											112	108	109					1																	248039433		2203	4300	6503	246106056	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1103C>A	1.37:g.248039433C>A	ENSP00000355437:p.Pro368Gln		246106056	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.757144	0.00657	.	.	ENSG00000162722	ENST00000366481	T	0.66995	-0.24	3.84	-0.414	0.12359	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.328680	0.04891	N	0.449556	T	0.43100	0.1232	N	0.10645	0.015	0.09310	N	1	B	0.27951	0.195	B	0.37480	0.251	T	0.32214	-0.9915	10	0.09338	T	0.73	.	0.483	0.00551	0.3352:0.2919:0.1645:0.2083	.	368	Q8NG06	TRI58_HUMAN	Q	368	ENSP00000355437:P368Q	ENSP00000355437:P368Q	P	+	2	0	TRIM58	246106056	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.012000	0.13287	-0.059000	0.13154	0.650000	0.86243	CCA		0.562	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		A	248039433	C	A	248039433	3	1	301	1	0	0	0	0	1	0	0	0	16531	594	21	3	1125	3	TRIM58	1	248039433	Missense_Mutation	SNP	C	TCGA-25-1627-01A-01W-0615-10	26981658	248039433	1211188	6	16359											
SCN2A	6326	hgsc.bcm.edu	37	2	166198805	166198805	+	Splice_Site	SNP	G	G	A			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr2:166198805G>A	ENST00000375437.2	+	15	2678		c.e15-1		SCN2A_ENST00000283256.6_Splice_Site|SCN2A_ENST00000375427.2_Splice_Site|SCN2A_ENST00000357398.3_Splice_Site	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.?(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCTCATTTAGGTCTTCACAG	0.308																																																1	Unknown(1)	ovary(1)	2											99	100	100					2																	166198805		2203	4300	6503	165907051	SO:0001630	splice_region_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2389-1G>A	2.37:g.166198805G>A			165907051	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Splice_Site	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270940	0.59540	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3427	0.94350	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCN2A	165907051	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	9.864000	0.99589	2.561000	0.86390	0.643000	0.83706	.		0.308	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	Intron	A	166198805	G	A	166198805	5	1	301	1	0	0	0	0	0	0	1	0	13919	1014	35	2	2538	2	SCN2A	2	166198805	Splice_Site	SNP	G	TCGA-25-1627-01A-01W-0615-10		166198805	77000568	7	16360											
PDE1A	5136	hgsc.bcm.edu	37	2	183387022	183387022	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr2:183387022A>G	ENST00000410103.1	-	2	165	c.82T>C	c.(82-84)Tgg>Cgg	p.W28R	PDE1A_ENST00000331935.6_Missense_Mutation_p.W28R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000435564.1_Missense_Mutation_p.W28R|PDE1A_ENST00000358139.2_Missense_Mutation_p.W28R|PDE1A_ENST00000456212.1_Missense_Mutation_p.W28R	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	28	Calmodulin-binding. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.W28R(1)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGGCGCTGCCACATTTTTTCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											140	140	140					2																	183387022		2202	4300	6502	183095267	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.82T>C	2.37:g.183387022A>G	ENSP00000387037:p.Trp28Arg		183095267	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808149	0.50421	.	.	ENSG00000115252	ENST00000435564;ENST00000331935;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T	0.70282	-0.46;-0.46;-0.46;-0.46;-0.47	5.73	4.58	0.56647	.	0.200392	0.32753	N	0.005688	T	0.66247	0.2770	L	0.36672	1.1	0.34741	D	0.730795	B;P	0.36048	0.429;0.534	B;P	0.46629	0.323;0.522	T	0.71533	-0.4564	10	0.40728	T	0.16	.	6.9365	0.24468	0.7743:0.15:0.0758:0.0	.	28;28	P54750;P54750-4	PDE1A_HUMAN;.	R	28	ENSP00000410309:W28R;ENSP00000331574:W28R;ENSP00000387037:W28R;ENSP00000350858:W28R;ENSP00000408874:W28R	ENSP00000331574:W28R	W	-	1	0	PDE1A	183095267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.527000	0.60573	1.010000	0.39314	0.482000	0.46254	TGG		0.408	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			G	183387022	A	G	183387022	3	3	301	1	0	0	0	0	1	0	0	0	11633	159	6	4	1659	4	PDE1A	2	183387022	Missense_Mutation	SNP	A	TCGA-25-1627-01A-01W-0615-10	17188217	183387022	59812351	8	16361											
KAT2B	8850	hgsc.bcm.edu	37	3	20136781	20136781	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr3:20136781G>A	ENST00000263754.4	+	3	912	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	153					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.V153M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCTGGAGAATGTGTCAGAGGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											99	98	98					3																	20136781		2203	4300	6503	20111785	SO:0001583	missense	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.457G>A	3.37:g.20136781G>A	ENSP00000263754:p.Val153Met		20111785	Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944582	0.73672	.	.	ENSG00000114166	ENST00000263754	T	0.22336	1.96	5.6	4.72	0.59763	PCAF, N-terminal (1);	0.259745	0.38005	N	0.001860	T	0.39489	0.1080	M	0.64997	1.995	0.48901	D	0.999726	P	0.44816	0.844	P	0.54590	0.756	T	0.22347	-1.0219	10	0.56958	D	0.05	-7.739	16.4906	0.84200	0.0:0.1312:0.8688:0.0	.	153	Q92831	KAT2B_HUMAN	M	153	ENSP00000263754:V153M	ENSP00000263754:V153M	V	+	1	0	KAT2B	20111785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.670000	0.61583	1.335000	0.45486	0.555000	0.69702	GTG		0.398	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		A	20136781	G	A	20136781	3	1	301	1	0	0	0	0	1	0	0	0	7982	1377	48	2	467	2	KAT2B	3	20136781	Missense_Mutation	SNP	G	TCGA-25-1627-01A-01W-0615-10		20136781	177885649	9	16362											
PIK3R4	30849	hgsc.bcm.edu	37	3	130463426	130463426	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr3:130463426C>G	ENST00000356763.3	-	2	1194	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E213Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTCATATATTCTAACTCAGTG	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											88	86	87					3																	130463426		2203	4300	6503	131946116	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.637G>C	3.37:g.130463426C>G	ENSP00000349205:p.Glu213Gln		131946116	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016423	0.54468	.	.	ENSG00000196455	ENST00000356763	T	0.06218	3.33	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.079955	0.53938	D	0.000059	T	0.07593	0.0191	L	0.37507	1.11	0.80722	D	1	B	0.30634	0.288	B	0.28991	0.097	T	0.40459	-0.9562	10	0.22706	T	0.39	-11.8136	19.2554	0.93944	0.0:1.0:0.0:0.0	.	213	Q99570	PI3R4_HUMAN	Q	213	ENSP00000349205:E213Q	ENSP00000349205:E213Q	E	-	1	0	PIK3R4	131946116	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	5.682000	0.68182	2.625000	0.88918	0.462000	0.41574	GAA		0.413	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		G	130463426	C	G	130463426	3	3	301	1	0	0	0	0	1	0	0	0	11921	922	32	3	3515	3	PIK3R4	3	130463426	Missense_Mutation	SNP	C	TCGA-25-1627-01A-01W-0615-10	110326645	130463426	67559004	10	16363											
PLCH1	23007	hgsc.bcm.edu	37	3	155232642	155232642	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr3:155232642G>T	ENST00000340059.7	-	11	1465	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y	PLCH1_ENST00000460012.1_Missense_Mutation_p.S471Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.S471Y|PLCH1_ENST00000494598.1_Missense_Mutation_p.S489Y|PLCH1_ENST00000447496.2_Missense_Mutation_p.S489Y|PLCH1_ENST00000334686.6_Missense_Mutation_p.S471Y	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	489					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S471Y(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTATGAAAGATTCCACCTG	0.388																																																1	Substitution - Missense(1)	ovary(1)	3											93	83	87					3																	155232642		2203	4300	6503	156715336	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1466C>A	3.37:g.155232642G>T	ENSP00000345988:p.Ser489Tyr		156715336	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718807	0.89205	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.8	5.8	0.92144	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.121462	0.64402	D	0.000018	T	0.68742	0.3034	M	0.67953	2.075	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.72075	0.976;0.921;0.935	T	0.66748	-0.5845	10	0.48119	T	0.1	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	471;489;489	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Y	489;471;489;489;471;471	ENSP00000419100:S489Y;ENSP00000417502:S471Y;ENSP00000402759:S489Y;ENSP00000345988:S489Y;ENSP00000335469:S471Y;ENSP00000412977:S471Y	ENSP00000335469:S471Y	S	-	2	0	PLCH1	156715336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.735000	0.93741	0.655000	0.94253	TCT		0.388	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		T	155232642	G	T	155232642	3	4	301	1	0	0	0	0	1	0	0	0	12037	942	33	3	3682	3	PLCH1	3	155232642	Missense_Mutation	SNP	G	TCGA-25-1627-01A-01W-0615-10	24769216	155232642	42789788	11	16364											
DNAH5	1767	hgsc.bcm.edu	37	5	13830837	13830837	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr5:13830837G>T	ENST00000265104.4	-	36	6034	c.5930C>A	c.(5929-5931)gCc>gAc	p.A1977D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1977	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1977D(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCAGCAGGGGCTCCCCCCAT	0.512									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	5											117	114	115					5																	13830837		2203	4300	6503	13883837	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5930C>A	5.37:g.13830837G>T	ENSP00000265104:p.Ala1977Asp		13883837	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756910	0.89843	.	.	ENSG00000039139	ENST00000265104	T	0.14516	2.5	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.55970	0.1954	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.73183	-0.4063	10	0.87932	D	0	.	19.4895	0.95044	0.0:0.0:1.0:0.0	.	1977	Q8TE73	DYH5_HUMAN	D	1977	ENSP00000265104:A1977D	ENSP00000265104:A1977D	A	-	2	0	DNAH5	13883837	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.869000	0.99810	2.596000	0.87737	0.655000	0.94253	GCC		0.512	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13830837	G	T	13830837	3	4	301	1	0	0	0	0	1	0	0	0	4604	1203	42	3	8120	3	DNAH5	5	13830837	Missense_Mutation	SNP	G	TCGA-25-1627-01A-01W-0615-10		13830837	167084423	12	16365											
CNTNAP2	26047	hgsc.bcm.edu	37	7	148112574	148112574	+	Missense_Mutation	SNP	C	C	T	rs138661307		TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr7:148112574C>T	ENST00000361727.3	+	24	4378	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R347C|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1288					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R1288S(1)|p.R1288C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTACATGTTCCGCCACAAGGG	0.567										HNSCC(39;0.1)																																						2	Substitution - Missense(2)	ovary(1)|lung(1)	7						C	CYS/ARG	0,4406		0,0,2203	85	71	76		3862	5.4	1	7	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CNTNAP2	NM_014141.5	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1288/1332	148112574	1,13005	2203	4300	6503	147743507	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3862C>T	7.37:g.148112574C>T	ENSP00000354778:p.Arg1288Cys		147743507	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020129	0.93462	0.0	1.16E-4	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.44482	0.92;0.92	5.42	5.42	0.78866	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.73011	-0.4117	10	0.87932	D	0	.	17.8137	0.88624	0.0:1.0:0.0:0.0	.	1288	Q9UHC6	CNTP2_HUMAN	C	1288;347	ENSP00000354778:R1288C;ENSP00000440732:R347C	ENSP00000354778:R1288C	R	+	1	0	CNTNAP2	147743507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.686000	0.84128	2.534000	0.85438	0.655000	0.94253	CGC		0.567	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	148112574	C	T	148112574	3	4	301	1	0	0	0	0	1	0	0	0	3647	652	23	1	3956	1	CNTNAP2	7	148112574	Missense_Mutation	SNP	C	TCGA-25-1627-01A-01W-0615-10		148112574	11026089	13	16366											
BLK	640	hgsc.bcm.edu	37	8	11415521	11415521	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr8:11415521C>T	ENST00000259089.4	+	10	1595	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	RP11-148O21.2_ENST00000533322.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.P264S|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P335S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATTGTCACTCCCAAGGCTGAT	0.552																																																1	Substitution - Missense(1)	ovary(1)	8											145	111	122					8																	11415521		2203	4300	6503	11452930	SO:0001583	missense	640			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1003C>T	8.37:g.11415521C>T	ENSP00000259089:p.Pro335Ser		11452930	Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551549	0.27739	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	D;D	0.81659	-1.52;-1.52	4.83	0.942	0.19525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.592946	0.13770	N	0.363943	T	0.65749	0.2721	N	0.20685	0.6	0.26227	N	0.979078	B	0.06786	0.001	B	0.09377	0.004	T	0.57201	-0.7852	10	0.62326	D	0.03	.	8.6891	0.34256	0.0:0.5989:0.0:0.4011	.	335	P51451	BLK_HUMAN	S	335;335;264	ENSP00000259089:P335S;ENSP00000433663:P264S	ENSP00000259089:P335S	P	+	1	0	BLK	11452930	0.000000	0.05858	0.602000	0.28890	0.550000	0.35303	0.181000	0.16880	0.207000	0.20607	0.485000	0.47835	CCA		0.552	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			T	11415521	C	T	11415521	3	4	301	1	0	0	0	0	1	0	0	0	1444	623	22	2	1037	2	BLK	8	11415521	Missense_Mutation	SNP	C	TCGA-25-1627-01A-01W-0615-10		11415521	134948501	14	16367											
BMP1	649	hgsc.bcm.edu	37	8	22064409	22064409	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr8:22064409C>T	ENST00000306385.5	+	17	2946	c.2276C>T	c.(2275-2277)aCc>aTc	p.T759I	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	759	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.T759I(1)|p.T759N(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGTACCATCACCAGCCCCAAC	0.632																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	8											104	78	87					8																	22064409		2203	4300	6503	22120354	SO:0001583	missense	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2276C>T	8.37:g.22064409C>T	ENSP00000305714:p.Thr759Ile		22120354	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462201	0.43736	.	.	ENSG00000168487	ENST00000306385	T	0.19394	2.15	4.19	4.19	0.49359	CUB (5);	0.000000	0.39687	U	0.001296	T	0.31670	0.0804	M	0.81179	2.53	0.80722	D	1	B	0.32893	0.389	B	0.38921	0.285	T	0.13522	-1.0506	10	0.23302	T	0.38	.	15.4614	0.75359	0.0:1.0:0.0:0.0	.	759	P13497	BMP1_HUMAN	I	759	ENSP00000305714:T759I	ENSP00000305714:T759I	T	+	2	0	BMP1	22120354	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.249000	0.32839	2.156000	0.67533	0.462000	0.41574	ACC		0.632	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		T	22064409	C	T	22064409	3	4	301	1	0	0	0	0	1	0	0	0	1456	507	18	2	2432	2	BMP1	8	22064409	Missense_Mutation	SNP	C	TCGA-25-1627-01A-01W-0615-10	10648888	22064409	124299613	15	16368											
COL22A1	169044	hgsc.bcm.edu	37	8	139635998	139635998	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr8:139635998T>C	ENST00000303045.6	-	52	4194	c.3748A>G	c.(3748-3750)Aag>Gag	p.K1250E	COL22A1_ENST00000435777.1_Missense_Mutation_p.K1230E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1250	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.K1250E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCCGGCTTTCCATCTCTG	0.448										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	ovary(1)	8											185	197	193					8																	139635998		2203	4300	6503	139705180	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3748A>G	8.37:g.139635998T>C	ENSP00000303153:p.Lys1250Glu		139705180	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187372	0.38609	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93366	-3.21;-3.21	4.43	4.43	0.53597	.	0.000000	0.51477	U	0.000093	D	0.89522	0.6739	N	0.10760	0.04	0.34123	D	0.66432	D;D	0.69078	0.996;0.997	D;D	0.79108	0.987;0.992	D	0.85580	0.1239	10	0.02654	T	1	.	10.373	0.44066	0.0:0.0:0.0:1.0	.	1230;1250	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	E	1250;1230;943	ENSP00000303153:K1250E;ENSP00000387655:K1230E	ENSP00000303153:K1250E	K	-	1	0	COL22A1	139705180	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.660000	0.54496	2.217000	0.71921	0.482000	0.46254	AAG		0.448	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		C	139635998	T	C	139635998	3	2	301	1	0	0	0	0	1	0	0	0	3681	1850	64	4	1188	4	COL22A1	8	139635998	Missense_Mutation	SNP	T	TCGA-25-1627-01A-01W-0615-10	117571589	139635998	6728024	16	16369											
CD274	29126	hgsc.bcm.edu	37	9	5462907	5462907	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr9:5462907G>T	ENST00000381577.3	+	4	554	c.468G>T	c.(466-468)caG>caT	p.Q156H	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.Q42H	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	156	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q156H(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TGACATGTCAGGCTGAGGGCT	0.478			T	CIITA	"PMBL, Hodgkin Lymphona, "																																		Dom	yes		9	9p24	29126	CD274 molecule		L	1	Substitution - Missense(1)	ovary(1)	9											99	81	87					9																	5462907		2203	4300	6503	5452907	SO:0001583	missense	29126			AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17635	protein-coding gene	gene with protein product	"B7 homolog 1"	605402	"programmed cell death 1 ligand 1", "CD274 antigen"	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.468G>T	9.37:g.5462907G>T	ENSP00000370989:p.Gln156His		5452907	B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	37	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326827	0.60743	.	.	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.75589	-0.95;-0.95	5.86	3.06	0.35304	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.158905	0.44483	D	0.000452	D	0.85128	0.5626	M	0.86178	2.8	0.36371	D	0.861296	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	D	0.86711	0.1936	10	0.87932	D	0	-38.4685	8.701	0.34325	0.2355:0.0:0.7645:0.0	.	156;42;156	Q9NZQ7-3;Q2V8D5;Q9NZQ7	.;.;PD1L1_HUMAN	H	42;156	ENSP00000370985:Q42H;ENSP00000370989:Q156H	ENSP00000370985:Q42H	Q	+	3	2	CD274	5452907	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	0.784000	0.26816	0.407000	0.25591	-0.140000	0.14226	CAG		0.478	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143		T	5462907	G	T	5462907	3	4	301	1	0	0	0	0	1	0	0	0	2991	991	35	3	478	3	CD274	9	5462907	Missense_Mutation	SNP	G	TCGA-25-1627-01A-01W-0615-10		5462907	135750524	17	16370											
MURC	347273	hgsc.bcm.edu	37	9	103348538	103348538	+	Missense_Mutation	SNP	C	C	G	rs145774333		TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr9:103348538C>G	ENST00000307584.5	+	2	965	c.900C>G	c.(898-900)agC>agG	p.S300R		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	300					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.S300R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTGCCAGGAGCGAGTCTCTGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	9											96	99	98					9																	103348538		2203	4300	6503	102388359	SO:0001583	missense	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.900C>G	9.37:g.103348538C>G	ENSP00000418668:p.Ser300Arg		102388359	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680863	0.29872	.	.	ENSG00000170681	ENST00000307584	T	0.66099	-0.19	4.61	-3.44	0.04796	.	0.564990	0.18618	N	0.135971	T	0.38108	0.1028	N	0.24115	0.695	0.09310	N	1	P	0.46457	0.878	B	0.42995	0.404	T	0.48468	-0.9033	10	0.17369	T	0.5	-5.0813	5.5372	0.17018	0.15:0.2602:0.0:0.5898	.	300	Q5BKX8	MURC_HUMAN	R	300	ENSP00000418668:S300R	ENSP00000418668:S300R	S	+	3	2	MURC	102388359	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.515000	0.02252	-0.617000	0.05664	-1.090000	0.02178	AGC		0.552	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		G	103348538	C	G	103348538	3	3	301	1	0	0	0	0	1	0	0	0	9987	767	27	3	906	3	MURC	9	103348538	Missense_Mutation	SNP	C	TCGA-25-1627-01A-01W-0615-10	97885631	103348538	37864893	18	16371											
SMC2	10592	hgsc.bcm.edu	37	9	106875659	106875659	+	Silent	SNP	G	G	A			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr9:106875659G>A	ENST00000286398.7	+	11	1605	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	SMC2_ENST00000303219.8_Silent_p.K439K|SMC2_ENST00000374793.3_Silent_p.K439K|SMC2_ENST00000374787.3_Silent_p.K439K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	439					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.K439K(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAGTTAAGAAGATGGATAGTG	0.363																																																1	Substitution - coding silent(1)	ovary(1)	9											85	89	87					9																	106875659		2203	4300	6503	105915480	SO:0001819	synonymous_variant	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1317G>A	9.37:g.106875659G>A			105915480	Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	CCDS35086.1																																																																																				0.363	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			A	106875659	G	A	106875659	2	1	301	1	0	0	0	0	0	0	0	1	14786	933	33	2		2	SMC2	9	106875659	Silent	SNP	G	TCGA-25-1627-01A-01W-0615-10	3527121	106875659	34337772	19	16372											
IDE	3416	hgsc.bcm.edu	37	10	94269887	94269887	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr10:94269887T>G	ENST00000265986.6	-	6	873	c.817A>C	c.(817-819)Aag>Cag	p.K273Q		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	273					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.K273Q(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	GAAAATAACTTTACCACCAGA	0.343																																																2	Substitution - Missense(2)	urinary_tract(1)|ovary(1)	10											106	109	108					10																	94269887		2203	4300	6503	94259867	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.817A>C	10.37:g.94269887T>G	ENSP00000265986:p.Lys273Gln		94259867	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.788132	0.49997	.	.	ENSG00000119912	ENST00000265986	T	0.10573	2.86	5.6	5.6	0.85130	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.107665	0.64402	D	0.000008	T	0.08492	0.0211	N	0.20401	0.57	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22452	-1.0216	10	0.34782	T	0.22	-11.5872	14.029	0.64604	0.0:0.0:0.0:1.0	.	273	P14735	IDE_HUMAN	Q	273	ENSP00000265986:K273Q	ENSP00000265986:K273Q	K	-	1	0	IDE	94259867	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.291000	0.72719	2.143000	0.66587	0.460000	0.39030	AAG		0.343	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		G	94269887	T	G	94269887	3	3	301	1	0	0	0	0	1	0	0	0	7493	1850	64	5	2322	5	IDE	10	94269887	Missense_Mutation	SNP	T	TCGA-25-1627-01A-01W-0615-10		94269887	41264860	20	16373											
DDB1	1642	hgsc.bcm.edu	37	11	61081669	61081669	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr11:61081669C>G	ENST00000301764.7	-	14	2000	c.1603G>C	c.(1603-1605)Gaa>Caa	p.E535Q	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	535	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.E535Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACTTCATGTTCCATCTCTGTG	0.493								Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	11											65	71	69					11																	61081669		2203	4299	6502	60838245	SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1603G>C	11.37:g.61081669C>G	ENSP00000301764:p.Glu535Gln		60838245	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246823	0.59103	.	.	ENSG00000167986	ENST00000301764;ENST00000535147;ENST00000537877;ENST00000535967;ENST00000539739	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	L	0.43152	1.355	0.80722	D	1	B	0.12013	0.005	B	0.16722	0.016	T	0.13602	-1.0503	10	0.21540	T	0.41	-16.2985	20.1379	0.98040	0.0:1.0:0.0:0.0	.	535	Q16531	DDB1_HUMAN	Q	535;2;99;186;254	ENSP00000301764:E535Q;ENSP00000442732:E99Q;ENSP00000437713:E186Q;ENSP00000445563:E254Q	ENSP00000301764:E535Q	E	-	1	0	DDB1	60838245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.370000	0.79589	2.779000	0.95612	0.655000	0.94253	GAA		0.493	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		G	61081669	C	G	61081669	3	3	301	1	0	0	0	0	1	0	0	0	4323	864	30	3	1875	3	DDB1	11	61081669	Missense_Mutation	SNP	C	TCGA-25-1627-01A-01W-0615-10		61081669	73924847	21	16374											
PDE3A	5139	hgsc.bcm.edu	37	12	20787946	20787946	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr12:20787946G>C	ENST00000359062.3	+	8	1997	c.1957G>C	c.(1957-1959)Gca>Cca	p.A653P	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	653					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.A653P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTGAGGAAAGCATCGGCTTG	0.433																																																1	Substitution - Missense(1)	ovary(1)	12											136	114	122					12																	20787946		2203	4300	6503	20679213	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1957G>C	12.37:g.20787946G>C	ENSP00000351957:p.Ala653Pro		20679213	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	5.890	0.348255	0.11126	.	.	ENSG00000172572	ENST00000359062	T	0.62498	0.02	5.64	1.85	0.25348	.	4.290180	0.00166	N	0.000010	T	0.50514	0.1620	N	0.22421	0.69	0.09310	N	1	B	0.28208	0.203	B	0.24394	0.053	T	0.35773	-0.9775	10	0.28530	T	0.3	.	10.2774	0.43519	0.2598:0.0:0.7402:0.0	.	653	Q14432	PDE3A_HUMAN	P	653	ENSP00000351957:A653P	ENSP00000351957:A653P	A	+	1	0	PDE3A	20679213	0.978000	0.34361	0.015000	0.15790	0.138000	0.21146	1.886000	0.39688	0.080000	0.16959	-0.142000	0.14014	GCA		0.433	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			C	20787946	G	C	20787946	3	2	301	1	0	0	0	0	1	0	0	0	11637	971	34	3	1987	3	PDE3A	12	20787946	Missense_Mutation	SNP	G	TCGA-25-1627-01A-01W-0615-10		20787946	113063949	22	16375											
TMPO	7112	hgsc.bcm.edu	37	12	98941441	98941441	+	Silent	SNP	T	T	C			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr12:98941441T>C	ENST00000556029.1	+	9	1526	c.1170T>C	c.(1168-1170)taT>taC	p.Y390Y	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Silent_p.Y281Y|TMPO_ENST00000343315.5_Silent_p.Y350Y	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	390	Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.Y390Y(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATCTAAATATGTTCCTAAGT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	12											86	86	86					12																	98941441		2203	4300	6503	97465572	SO:0001819	synonymous_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1170T>C	12.37:g.98941441T>C			97465572	A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	CCDS31879.1																																																																																				0.448	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		C	98941441	T	C	98941441	2	2	301	1	0	0	0	0	0	0	0	1	16237	1471	51	4		4	TMPO	12	98941441	Silent	SNP	T	TCGA-25-1627-01A-01W-0615-10	78153495	98941441	34910454	23	16376											
PRKCB	5579	hgsc.bcm.edu	37	16	23999887	23999887	+	Silent	SNP	C	C	T	rs115750906		TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr16:23999887C>T	ENST00000321728.7	+	3	439	c.264C>T	c.(262-264)ggC>ggT	p.G88G	PRKCB_ENST00000303531.7_Silent_p.G88G	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	88					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.G88G(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CCTGCCCTGGCGCTGACAAGG	0.488																																																3	Substitution - coding silent(3)	endometrium(2)|ovary(1)	16						C	,	2,4392	4.2+/-10.8	0,2,2195	123	110	115		264,264	-10.4	0.8	16	dbSNP_132	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRKCB	NM_002738.6,NM_212535.2	,	0,3,6494	TT,TC,CC		0.0116,0.0455,0.0231	,	88/674,88/672	23999887	3,12991	2197	4300	6497	23907388	SO:0001819	synonymous_variant	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.264C>T	16.37:g.23999887C>T			23907388	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	CCDS10618.1																																																																																				0.488	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		T	23999887	C	T	23999887	2	4	301	1	0	0	0	0	0	0	0	1	12511	755	27	1		1	PRKCB	16	23999887	Silent	SNP	C	TCGA-25-1627-01A-01W-0615-10		23999887	66354866	24	16377											
TP53	7157	hgsc.bcm.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	301	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-25-1627-01A-01W-0615-10		7578190	73617020	25	16378											
MAN2B1	4125	hgsc.bcm.edu	37	19	12775781	12775781	+	Missense_Mutation	SNP	T	T	C	rs200164758	byFrequency	TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr19:12775781T>C	ENST00000456935.2	-	4	495	c.455A>G	c.(454-456)aAt>aGt	p.N152S	WDR83_ENST00000418543.3_5'Flank|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.N149S|MAN2B1_ENST00000221363.4_Missense_Mutation_p.N152S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	152					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.N152S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAGCCACCATTGGCGAACTC	0.592													T|||	2	0.000399361	0.0015	0	5008	,	,		18970	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19						T	SER/ASN,SER/ASN	6,4400	11.4+/-27.6	0,6,2197	66	50	55		455,455	5.7	1	19		55	1,8599		0,1,4299	yes	missense,missense	MAN2B1	NM_000528.3,NM_001173498.1	46,46	0,7,6496	CC,CT,TT		0.0116,0.1362,0.0538	benign,benign	152/1012,152/1011	12775781	7,12999	2203	4300	6503	12636781	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.455A>G	19.37:g.12775781T>C	ENSP00000395473:p.Asn152Ser		12636781	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039884	0.75732	0.001362	1.16E-4	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.78924	-1.22;-1.22	5.69	5.69	0.88448	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.51477	D	0.000100	D	0.86785	0.6016	M	0.73598	2.24	0.58432	D	0.999997	D;D	0.89917	0.997;1.0	D;D	0.79784	0.931;0.993	D	0.86473	0.1786	10	0.40728	T	0.16	-52.9882	13.8998	0.63797	0.0:0.0:0.0:1.0	.	152;152	G5E928;O00754	.;MA2B1_HUMAN	S	152;91;152	ENSP00000395473:N152S;ENSP00000221363:N152S	ENSP00000221363:N152S	N	-	2	0	MAN2B1	12636781	1.000000	0.71417	0.991000	0.47740	0.790000	0.44656	4.722000	0.61958	2.171000	0.68590	0.402000	0.26972	AAT		0.592	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			C	12775781	T	C	12775781	3	2	301	1	0	0	0	0	1	0	0	0	9216	1493	52	4	2664	4	MAN2B1	19	12775781	Missense_Mutation	SNP	T	TCGA-25-1627-01A-01W-0615-10		12775781	46353202	26	16379											
TMPRSS15	5651	hgsc.bcm.edu	37	21	19701534	19701534	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr21:19701534C>T	ENST00000284885.3	-	15	1765	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	578	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D578N(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCAACTACATCGTTAATATTT	0.308																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	21											91	88	89					21																	19701534		2203	4298	6501	18623405	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1732G>A	21.37:g.19701534C>T	ENSP00000284885:p.Asp578Asn		18623405	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758031	0.69648	.	.	ENSG00000154646	ENST00000284885	T	0.33865	1.39	5.53	5.53	0.82687	CUB (5);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	H	0.94345	3.525	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	T	0.79598	-0.1737	9	.	.	.	.	17.3132	0.87215	0.0:1.0:0.0:0.0	.	578	P98073	ENTK_HUMAN	N	578	ENSP00000284885:D578N	.	D	-	1	0	TMPRSS15	18623405	1.000000	0.71417	0.983000	0.44433	0.332000	0.28634	5.609000	0.67661	2.758000	0.94735	0.655000	0.94253	GAT		0.308	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19701534	C	T	19701534	3	4	301	1	0	0	0	0	1	0	0	0	16246	884	31	1	1371	1	TMPRSS15	21	19701534	Missense_Mutation	SNP	C	TCGA-25-1627-01A-01W-0615-10		19701534	28428361	27	16380											
EWSR1	2130	hgsc.bcm.edu	37	22	29683064	29683064	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chr22:29683064G>T	ENST00000397938.2	+	7	1053	c.734G>T	c.(733-735)gGa>gTa	p.G245V	EWSR1_ENST00000331029.7_Missense_Mutation_p.G245V|EWSR1_ENST00000414183.2_Missense_Mutation_p.G251V|EWSR1_ENST00000333395.6_Missense_Mutation_p.G245V|EWSR1_ENST00000332035.6_Missense_Mutation_p.G189V|EWSR1_ENST00000332050.6_Missense_Mutation_p.G245V|EWSR1_ENST00000406548.1_Missense_Mutation_p.G245V	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	245	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G245V(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCAAACTGGATCCTACAGC	0.498			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	1	Substitution - Missense(1)	ovary(1)	22											71	64	66					22																	29683064		2203	4300	6503	28013064	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.734G>T	22.37:g.29683064G>T	ENSP00000381031:p.Gly245Val		28013064	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235920	0.58886	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000455726;ENST00000332035	T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.7	5.7	0.88788	.	0.167625	0.37761	U	0.001952	T	0.32041	0.0816	L	0.55990	1.75	0.53688	D	0.999979	B;B;B;B;B;B	0.28082	0.2;0.2;0.2;0.2;0.2;0.172	B;B;B;B;B;B	0.25759	0.037;0.061;0.061;0.061;0.061;0.063	T	0.07139	-1.0788	10	0.59425	D	0.04	.	15.3317	0.74219	0.0:0.1392:0.8608:0.0	.	189;245;189;251;245;245	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;.;EWS_HUMAN;.	V	245;245;245;246;170;245;251;245;189;189	ENSP00000330896:G245V;ENSP00000381031:G245V;ENSP00000385726:G245V;ENSP00000412670:G246V;ENSP00000330516:G245V;ENSP00000400142:G251V;ENSP00000327456:G245V;ENSP00000393637:G189V;ENSP00000331699:G189V	ENSP00000330516:G245V	G	+	2	0	EWSR1	28013064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.361000	0.66092	2.687000	0.91594	0.655000	0.94253	GGA		0.498	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		T	29683064	G	T	29683064	3	4	301	1	0	0	0	0	1	0	0	0	5296	1174	41	3	782	3	EWSR1	22	29683064	Missense_Mutation	SNP	G	TCGA-25-1627-01A-01W-0615-10		29683064	21621502	28	16381											
DMD	1756	hgsc.bcm.edu	37	X	31497167	31497167	+	Silent	SNP	C	C	T			TCGA-25-1627-01A-01W-0615-10	TCGA-25-1627-10A-01W-0615-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	585e82bf-b720-4d08-a424-f26e6f4c666c	27b32952-b5bb-4738-b7d0-929f05f1dc3d	g.chrX:31497167C>T	ENST00000357033.4	-	58	8807	c.8601G>A	c.(8599-8601)gaG>gaA	p.E2867E	DMD_ENST00000541735.1_Silent_p.E407E|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000359836.1_Silent_p.E407E|DMD_ENST00000474231.1_Silent_p.E407E|DMD_ENST00000378707.3_Silent_p.E407E|DMD_ENST00000343523.2_Silent_p.E407E|DMD_ENST00000378677.2_Silent_p.E2863E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2867					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E407E(1)|p.E2862E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCGTACAGTCTCAAGAGTAC	0.393																																																2	Substitution - coding silent(2)	ovary(2)	X											103	91	95					X																	31497167		2202	4300	6502	31407088	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8601G>A	X.37:g.31497167C>T			31407088	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	6.273	0.418466	0.11870	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56798	-0.7919	4	.	.	.	.	7.5569	0.27829	0.1654:0.7491:0.0:0.0855	.	.	.	.	N	596	.	.	D	-	1	0	DMD	31407088	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.614000	0.24314	2.257000	0.74773	0.600000	0.82982	GAC		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31497167	C	T	31497167	2	4	301	1	0	0	0	0	0	0	0	1	4580	912	32	2		2	DMD	23	31497167	Silent	SNP	C	TCGA-25-1627-01A-01W-0615-10		31497167	123773393	29	16382											
MMEL1	79258	hgsc.bcm.edu	37	1	2528036	2528036	+	Silent	SNP	G	G	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr1:2528036G>A	ENST00000378412.3	-	14	1526	c.1365C>T	c.(1363-1365)taC>taT	p.Y455Y	MMEL1_ENST00000288709.6_Silent_p.Y446Y|MMEL1_ENST00000502556.1_Silent_p.Y298Y			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	455						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y446Y(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTCCCTGACGTAGAGGGAGC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	1											110	88	95					1																	2528036		2203	4300	6503	2517896	SO:0001819	synonymous_variant	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1365C>T	1.37:g.2528036G>A			2517896	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	CCDS30569.2																																																																																				0.652	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		A	2528036	G	A	2528036	2	1	302	1	0	0	0	0	0	0	0	1	9646	1140	40	1		1	MMEL1	1	2528036	Silent	SNP	G	TCGA-25-1628-01A-01W-0615-10		2528036	246722585	1	16383											
ROR1	4919	hgsc.bcm.edu	37	1	64608196	64608196	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr1:64608196C>G	ENST00000371079.1	+	7	1412	c.1037C>G	c.(1036-1038)aCt>aGt	p.T346S	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Missense_Mutation_p.T346S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	346	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.T346S(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACACACACACTTTCACCGCC	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											146	127	134					1																	64608196		2203	4300	6503	64380784	SO:0001583	missense	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1037C>G	1.37:g.64608196C>G	ENSP00000360120:p.Thr346Ser		64380784	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	4.645	0.119818	0.08881	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.60424	0.33;0.19	6.08	5.15	0.70609	Kringle (4);Kringle-like fold (1);	0.153395	0.29830	N	0.011088	T	0.17916	0.0430	N	0.04297	-0.235	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.17979	0.006;0.02	T	0.14896	-1.0456	10	0.09338	T	0.73	.	17.0751	0.86584	0.0:0.8691:0.1309:0.0	.	346;346	Q01973;Q66K77	ROR1_HUMAN;.	S	346;346;349	ENSP00000360121:T346S;ENSP00000360120:T346S	ENSP00000360120:T346S	T	+	2	0	ROR1	64380784	0.987000	0.35691	1.000000	0.80357	0.233000	0.25261	1.423000	0.34837	1.545000	0.49373	0.655000	0.94253	ACT		0.552	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		G	64608196	C	G	64608196	3	3	302	1	0	0	0	0	1	0	0	0	13529	565	20	3	1063	3	ROR1	1	64608196	Missense_Mutation	SNP	C	TCGA-25-1628-01A-01W-0615-10	62080160	64608196	184642425	2	16384											
TUBA4A	7277	hgsc.bcm.edu	37	2	220115939	220115939	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr2:220115939T>C	ENST00000248437.4	-	4	655	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	TUBA4A_ENST00000392088.2_Missense_Mutation_p.Y146C|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	161					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.Y146C(1)|p.Y161C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TTTCTTGCCATAGTCAACAGA	0.577																																																2	Substitution - Missense(2)	ovary(2)	2											55	62	60					2																	220115939		2203	4300	6503	219824183	SO:0001583	missense	7277			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.482A>G	2.37:g.220115939T>C	ENSP00000248437:p.Tyr161Cys		219824183	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941602	0.34283	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989;ENST00000427737;ENST00000456818;ENST00000447205	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.28	5.28	0.74379	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000001	D	0.92606	0.7651	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94449	0.7665	10	0.87932	D	0	.	11.1756	0.48596	0.1375:0.0:0.0:0.8625	.	161	P68366	TBA4A_HUMAN	C	161;146;8;146;184;146	ENSP00000248437:Y161C;ENSP00000375938:Y146C;ENSP00000396212:Y8C;ENSP00000408194:Y146C;ENSP00000416992:Y184C;ENSP00000396061:Y146C	ENSP00000248437:Y161C	Y	-	2	0	TUBA4A	219824183	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	2.468000	0.45102	2.224000	0.72417	0.533000	0.62120	TAT		0.577	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		C	220115939	T	C	220115939	3	2	302	1	0	0	0	0	1	0	0	0	16749	1406	49	4	868	4	TUBA4A	2	220115939	Missense_Mutation	SNP	T	TCGA-25-1628-01A-01W-0615-10		220115939	23083434	3	16385											
ATP13A5	344905	hgsc.bcm.edu	37	3	193052730	193052730	+	Missense_Mutation	SNP	C	C	T	rs370567338		TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr3:193052730C>T	ENST00000342358.4	-	10	1219	c.1102G>A	c.(1102-1104)Gtt>Att	p.V368I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	368						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.V368I(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTTTGCAAAACGACTGCTCGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	3							ILE/VAL	0,4406		0,0,2203	94	94	94		1102	5.9	1	3		94	2,8598	2.2+/-6.3	0,2,4298	no	missense	ATP13A5	NM_198505.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	368/1219	193052730	2,13004	2203	4300	6503	194535424	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1102G>A	3.37:g.193052730C>T	ENSP00000341942:p.Val368Ile		194535424	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731273	0.89390	0.0	2.33E-4	ENSG00000187527	ENST00000342358	D	0.94828	-3.53	5.86	5.86	0.93980	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.198393	0.34676	N	0.003780	D	0.97854	0.9295	M	0.91196	3.185	0.54753	D	0.999988	D	0.76494	0.999	D	0.70935	0.971	D	0.98281	1.0508	10	0.72032	D	0.01	-16.4559	18.7576	0.91838	0.0:1.0:0.0:0.0	.	368	Q4VNC0	AT135_HUMAN	I	368	ENSP00000341942:V368I	ENSP00000341942:V368I	V	-	1	0	ATP13A5	194535424	1.000000	0.71417	0.992000	0.48379	0.831000	0.47069	7.001000	0.76297	2.788000	0.95919	0.651000	0.88453	GTT		0.433	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		T	193052730	C	T	193052730	3	4	302	1	0	0	0	0	1	0	0	0	1127	536	19	1	2636	1	ATP13A5	3	193052730	Missense_Mutation	SNP	C	TCGA-25-1628-01A-01W-0615-10		193052730	4969700	4	16386											
BMPR1B	658	hgsc.bcm.edu	37	4	96025705	96025705	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr4:96025705A>T	ENST00000515059.1	+	4	413	c.130A>T	c.(130-132)Aac>Tac	p.N44Y	BMPR1B_ENST00000394931.1_Missense_Mutation_p.N44Y|BMPR1B_ENST00000264568.4_Missense_Mutation_p.N44Y|BMPR1B_ENST00000502683.1_Missense_Mutation_p.N44Y|BMPR1B_ENST00000440890.2_Missense_Mutation_p.N74Y	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	44					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.N44Y(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGACTCAGTCAACAATATTTG	0.433																																																2	Substitution - Missense(2)	ovary(2)	4											111	107	109					4																	96025705		2203	4299	6502	96244728	SO:0001583	missense	658			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.130A>T	4.37:g.96025705A>T	ENSP00000426617:p.Asn44Tyr		96244728	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.821063	0.71028	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	D;D;D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	5.68	5.68	0.88126	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	M	0.92923	3.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97234	0.9886	10	0.87932	D	0	.	14.9072	0.70730	1.0:0.0:0.0:0.0	.	44	O00238	BMR1B_HUMAN	Y	44;44;44;44;74;44;44;44	ENSP00000426617:N44Y;ENSP00000421144:N44Y;ENSP00000425444:N44Y;ENSP00000421671:N44Y;ENSP00000401907:N74Y;ENSP00000424693:N44Y;ENSP00000264568:N44Y;ENSP00000378389:N44Y	ENSP00000264568:N44Y	N	+	1	0	BMPR1B	96244728	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.504000	0.60414	2.161000	0.67846	0.482000	0.46254	AAC		0.433	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		T	96025705	A	T	96025705	3	4	302	1	0	0	0	0	1	0	0	0	1470	130	5	5	132	5	BMPR1B	4	96025705	Missense_Mutation	SNP	A	TCGA-25-1628-01A-01W-0615-10		96025705	95128571	5	16387											
SPOCK3	50859	hgsc.bcm.edu	37	4	167656170	167656170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr4:167656170C>A	ENST00000357154.3	-	12	1350	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.E362*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.E402*|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.E405*|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.E405*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.E405*|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.E402*|SPOCK3_ENST00000534949.1_Nonsense_Mutation_p.E309*|SPOCK3_ENST00000541354.1_Nonsense_Mutation_p.E285*|SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.E307*|SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.E307*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.E402*|SPOCK3_ENST00000535728.1_Nonsense_Mutation_p.E273*|SPOCK3_ENST00000421836.2_Nonsense_Mutation_p.E354*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	405	Asp-rich.			E -> G (in Ref. 4; BAG58265). {ECO:0000305}.	negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.E402*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		atatcgtcttcatcatcctca	0.353																																																1	Substitution - Nonsense(1)	ovary(1)	4											192	178	183					4																	167656170		2203	4299	6502	167892745	SO:0001587	stop_gained	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1213G>T	4.37:g.167656170C>A	ENSP00000349677:p.Glu405*		167892745	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Nonsense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416478	0.42918	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	.	.	.	5.14	5.14	0.70334	.	0.549955	0.18619	N	0.135918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-29.1078	17.55	0.87873	0.0:1.0:0.0:0.0	.	.	.	.	X	405;402;402;405;405;405;362;285;307;402;273;354;307;309	.	ENSP00000349677:E405X	E	-	1	0	SPOCK3	167892745	0.996000	0.38824	0.367000	0.25926	0.006000	0.05464	3.653000	0.54446	2.561000	0.86390	0.637000	0.83480	GAA		0.353	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			A	167656170	C	A	167656170	4	1	302	1	0	0	0	0	0	1	0	0	15083	835	29	3	101	3	SPOCK3	4	167656170	Nonsense_Mutation	SNP	C	TCGA-25-1628-01A-01W-0615-10	71630465	167656170	23498106	6	16388											
PKHD1	5314	hgsc.bcm.edu	37	6	51491869	51491869	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr6:51491869T>C	ENST00000371117.3	-	66	11986	c.11711A>G	c.(11710-11712)aAt>aGt	p.N3904S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3904					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.N3904S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATATGAATATTTTGATTATT	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											261	261	261					6																	51491869		2203	4300	6503	51599828	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11711A>G	6.37:g.51491869T>C	ENSP00000360158:p.Asn3904Ser		51599828	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.572620	0.28092	.	.	ENSG00000170927	ENST00000371117	D	0.85702	-2.02	5.19	1.34	0.21922	.	0.517350	0.17914	N	0.157738	T	0.49201	0.1543	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.48864	-0.8997	10	0.66056	D	0.02	.	6.6735	0.23082	0.0:0.3181:0.0:0.6819	.	3904	P08F94	PKHD1_HUMAN	S	3904	ENSP00000360158:N3904S	ENSP00000360158:N3904S	N	-	2	0	PKHD1	51599828	0.269000	0.24143	0.006000	0.13384	0.008000	0.06430	0.343000	0.19944	0.140000	0.18849	0.533000	0.62120	AAT		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51491869	T	C	51491869	3	2	302	1	0	0	0	0	1	0	0	0	11971	1493	52	4	521	4	PKHD1	6	51491869	Missense_Mutation	SNP	T	TCGA-25-1628-01A-01W-0615-10		51491869	119623198	7	16389											
GRM1	2911	hgsc.bcm.edu	37	6	146351124	146351124	+	Silent	SNP	G	G	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr6:146351124G>A	ENST00000282753.1	+	1	706	c.471G>A	c.(469-471)gcG>gcA	p.A157A	GRM1_ENST00000392299.2_Silent_p.A157A|GRM1_ENST00000507907.1_Silent_p.A157A|GRM1_ENST00000361719.2_Silent_p.A157A|GRM1_ENST00000492807.2_Silent_p.A157A|GRM1_ENST00000355289.4_Silent_p.A157A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	157					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A157A(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCCCATTGCGGGAGTGATCG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	6											68	72	71					6																	146351124		2203	4300	6503	146392817	SO:0001819	synonymous_variant	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.471G>A	6.37:g.146351124G>A			146392817	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																				0.577	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		A	146351124	G	A	146351124	2	1	302	1	0	0	0	0	0	0	0	1	6796	1103	39	1		1	GRM1	6	146351124	Silent	SNP	G	TCGA-25-1628-01A-01W-0615-10	94859255	146351124	24763943	8	16390											
LRSAM1	90678	hgsc.bcm.edu	37	9	130230081	130230081	+	Silent	SNP	T	T	G			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr9:130230081T>G	ENST00000323301.4	+	9	1195	c.591T>G	c.(589-591)acT>acG	p.T197T	LRSAM1_ENST00000373322.1_Silent_p.T197T|LRSAM1_ENST00000373324.4_Silent_p.T197T|LRSAM1_ENST00000300417.6_Silent_p.T197T	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	197					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T197T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GTGCCGGCACTGCGGCCATCT	0.622																																																2	Substitution - coding silent(2)	ovary(2)	9											67	51	56					9																	130230081		2203	4300	6503	129269902	SO:0001819	synonymous_variant	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.591T>G	9.37:g.130230081T>G			129269902	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	CCDS6873.1																																																																																				0.622	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		G	130230081	T	G	130230081	2	3	302	1	0	0	0	0	0	0	0	1	9043	1567	55	5		5	LRSAM1	9	130230081	Silent	SNP	T	TCGA-25-1628-01A-01W-0615-10		130230081	10983350	9	16391											
KLHDC5	57542	hgsc.bcm.edu	37	12	27944691	27944691	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr12:27944691G>A	ENST00000381271.2	+	2	1234	c.923G>A	c.(922-924)gGg>gAg	p.G308E		NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	308					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G308E(1)									GCCATCGGAGGGCAGGCCGTT	0.483																																																1	Substitution - Missense(1)	ovary(1)	12											216	206	210					12																	27944691		2203	4300	6503	27835958	SO:0001583	missense	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.923G>A	12.37:g.27944691G>A	ENSP00000370671:p.Gly308Glu		27835958	Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888575	0.91814	.	.	ENSG00000087448	ENST00000381271	D	0.99494	-6.01	4.86	4.86	0.63082	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96586	0.9434	10	0.87932	D	0	.	17.1803	0.86853	0.0:0.0:1.0:0.0	.	308	Q9P2K6	KLDC5_HUMAN	E	308	ENSP00000370671:G308E	ENSP00000370671:G308E	G	+	2	0	KLHDC5	27835958	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.069000	0.93967	2.505000	0.84491	0.650000	0.86243	GGG		0.483	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		A	27944691	G	A	27944691	3	1	302	1	0	0	0	0	1	0	0	0	8359	1232	43	2	929	2	KLHDC5	12	27944691	Missense_Mutation	SNP	G	TCGA-25-1628-01A-01W-0615-10		27944691	105907204	10	16392											
ARID2	196528	hgsc.bcm.edu	37	12	46244202	46244202	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr12:46244202C>T	ENST00000334344.6	+	15	2468	c.2296C>T	c.(2296-2298)Cca>Tca	p.P766S	ARID2_ENST00000422737.1_Missense_Mutation_p.P617S|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.P376S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	766					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P766S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTTCACCATCCATCTGTAAT	0.473			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	ovary(1)	12											85	73	77					12																	46244202		2203	4300	6503	44530469	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2296C>T	12.37:g.46244202C>T	ENSP00000335044:p.Pro766Ser		44530469	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705450	0.48412	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.34072	1.38	5.83	5.83	0.93111	.	0.106321	0.64402	N	0.000004	T	0.36248	0.0960	L	0.27053	0.805	0.80722	D	1	P;P;B	0.36633	0.562;0.562;0.376	B;B;B	0.41036	0.346;0.346;0.141	T	0.15780	-1.0425	10	0.62326	D	0.03	-9.6831	20.1152	0.97926	0.0:1.0:0.0:0.0	.	766;376;766	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	S	766;617;376	ENSP00000335044:P766S	ENSP00000335044:P766S	P	+	1	0	ARID2	44530469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.193000	0.58385	2.750000	0.94351	0.655000	0.94253	CCA		0.473	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		T	46244202	C	T	46244202	3	4	302	1	0	0	0	0	1	0	0	0	915	855	30	2	2354	2	ARID2	12	46244202	Missense_Mutation	SNP	C	TCGA-25-1628-01A-01W-0615-10	18299511	46244202	87607693	11	16393											
MTHFD1	4522	hgsc.bcm.edu	37	14	64886575	64886575	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr14:64886575A>G	ENST00000545908.1	+	8	1056	c.827A>G	c.(826-828)gAa>gGa	p.E276G	MTHFD1_ENST00000216605.8_Missense_Mutation_p.E220G			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	220	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.|Substrate binding.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.E220G(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGTCAGCCTGAAATGGTTAAA	0.443																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											1	Substitution - Missense(1)	ovary(1)	14											123	114	117					14																	64886575		2203	4300	6503	63956328	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.827A>G	14.37:g.64886575A>G	ENSP00000438588:p.Glu276Gly		63956328	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	A	18.14	3.558735	0.65538	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.74	5.74	0.90152	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.31065	0.9	0.80722	D	1	B;B;B	0.18610	0.029;0.029;0.006	B;B;B	0.20184	0.017;0.028;0.01	T	0.31308	-0.9948	10	0.49607	T	0.09	-26.7219	14.6068	0.68486	1.0:0.0:0.0:0.0	.	276;220;220	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	G	276;220;276;200	ENSP00000438588:E276G;ENSP00000450560:E220G;ENSP00000216605:E276G;ENSP00000451309:E200G	ENSP00000216605:E220G	E	+	2	0	MTHFD1	63956328	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.339000	0.96797	2.192000	0.70111	0.528000	0.53228	GAA		0.443	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			G	64886575	A	G	64886575	3	3	302	1	0	0	0	0	1	0	0	0	9927	246	9	4	689	4	MTHFD1	14	64886575	Missense_Mutation	SNP	A	TCGA-25-1628-01A-01W-0615-10		64886575	42462965	12	16394											
CAMKK1	84254	hgsc.bcm.edu	37	17	3787704	3787704	+	Silent	SNP	G	G	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr17:3787704G>A	ENST00000348335.2	-	3	526	c.378C>T	c.(376-378)aaC>aaT	p.N126N	CAMKK1_ENST00000158166.5_Silent_p.N126N|CAMKK1_ENST00000381769.2_Silent_p.N153N|CAMKK1_ENST00000381771.2_Silent_p.N126N	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	126					synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.N126N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GCTTGTACTGGTTCAGCTGCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	17											178	169	172					17																	3787704		2203	4300	6503	3734453	SO:0001819	synonymous_variant	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.378C>T	17.37:g.3787704G>A			3734453	Q9BQH3	Silent	SNP	ENST00000348335.2	37	CCDS11038.1																																																																																				0.612	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		A	3787704	G	A	3787704	2	1	302	1	0	0	0	0	0	0	0	1	2606	1252	44	2		2	CAMKK1	17	3787704	Silent	SNP	G	TCGA-25-1628-01A-01W-0615-10		3787704	77407506	13	16395											
TP53	7157	hgsc.bcm.edu	37	17	7579536	7579536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr17:7579536C>A	ENST00000269305.4	-	4	340	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E51*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E51*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E51*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E51*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.E51*	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	51	Interaction with HRMT1L2.				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.0?(8)|p.E51*(6)|p.E51fs*6(3)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.E51fs*72(1)|p.P13fs*18(1)|p.S33fs*23(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)	AACCATTGTTCAATATCGTCC	0.592		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"	23	Whole gene deletion(8)|Substitution - Nonsense(6)|Deletion - Frameshift(6)|Insertion - Frameshift(3)	ovary(5)|bone(4)|skin(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|kidney(1)|breast(1)|prostate(1)|pancreas(1)	17											169	168	168					17																	7579536		2203	4300	6503	7520261	SO:0001587	stop_gained	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.151G>T	17.37:g.7579536C>A	ENSP00000269305:p.Glu51*		7520261	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718125	0.48622	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.77	0.663	0.17885	.	1.997220	0.02241	N	0.065738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	0.6634	5.7343	0.18057	0.0:0.6465:0.0:0.3535	.	.	.	.	X	51	.	ENSP00000269305:E51X	E	-	1	0	TP53	7520261	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.943000	0.03917	0.194000	0.20326	0.561000	0.74099	GAA		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7579536	C	A	7579536	4	1	302	1	0	0	0	0	0	1	0	0	16381	835	29	3	1151	3	TP53	17	7579536	Nonsense_Mutation	SNP	C	TCGA-25-1628-01A-01W-0615-10	3791832	7579536	73615674	14	16396											
C17orf71	55181	hgsc.bcm.edu	37	17	57290517	57290517	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr17:57290517A>C	ENST00000543872.2	+	4	2597	c.2333A>C	c.(2332-2334)aAc>aCc	p.N778T	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.N778T			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	778					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.N778T(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AAGTCTTATAACTTTCATACA	0.438																																																1	Substitution - Missense(1)	ovary(1)	17											104	107	106					17																	57290517		2203	4300	6503	54645299	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2333A>C	17.37:g.57290517A>C	ENSP00000438748:p.Asn778Thr		54645299	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	A	8.674	0.903640	0.17760	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.42131	0.98;0.98	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	N	0.25144	0.715	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.40098	-0.9581	10	0.20519	T	0.43	-21.996	15.8218	0.78654	1.0:0.0:0.0:0.0	.	778	Q8ND04	SMG8_HUMAN	T	778	ENSP00000300917:N778T;ENSP00000438748:N778T	ENSP00000300917:N778T	N	+	2	0	SMG8	54645299	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.142000	0.77339	2.326000	0.78906	0.533000	0.62120	AAC		0.438	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		C	57290517	A	C	57290517	3	2	302	1	0	0	0	0	1	0	0	0	1878	43	2	5	2343	5	C17orf71	17	57290517	Missense_Mutation	SNP	A	TCGA-25-1628-01A-01W-0615-10	49710981	57290517	23904693	15	16397											
RAB37	326624	hgsc.bcm.edu	37	17	72736931	72736931	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr17:72736931G>A	ENST00000392613.5	+	2	174	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	RAB37_ENST00000392610.1_Missense_Mutation_p.V40I|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000528438.1_Missense_Mutation_p.V13I|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.V45I|RAB37_ENST00000402449.4_Intron	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	40					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AGACACAGGCGTCGGCAAAAC	0.567																																																0			17											153	154	153					17																	72736931		2203	4300	6503	70248526	SO:0001583	missense	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.118G>A	17.37:g.72736931G>A	ENSP00000376389:p.Val40Ile		70248526	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799506	0.70567	.	.	ENSG00000172794	ENST00000528438;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392610	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.072360	0.53938	D	0.000052	D	0.91442	0.7299	M	0.93241	3.395	0.80722	D	1	P;P	0.50369	0.739;0.934	P;P	0.52627	0.503;0.704	D	0.93664	0.6984	10	0.87932	D	0	.	17.663	0.88197	0.0:0.0:1.0:0.0	.	45;40	A8MYT0;Q96AX2	.;RAB37_HUMAN	I	13;45;40;40;40	ENSP00000432086:V13I;ENSP00000376390:V45I;ENSP00000376389:V40I;ENSP00000376387:V40I	ENSP00000376387:V40I	V	+	1	0	RAB37	70248526	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	9.248000	0.95456	2.469000	0.83416	0.561000	0.74099	GTC		0.567	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		A	72736931	G	A	72736931	3	1	302	1	0	0	0	0	1	0	0	0	12930	1145	40	1	427	1	RAB37	17	72736931	Missense_Mutation	SNP	G	TCGA-25-1628-01A-01W-0615-10	15446414	72736931	8458279	16	16398											
GRIN2C	2905	hgsc.bcm.edu	37	17	72846013	72846013	+	Silent	SNP	G	G	A	rs201943001		TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr17:72846013G>A	ENST00000293190.5	-	7	1697	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Silent_p.S517S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	517					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.S517S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTACGATCTCGGAGCGTTCCT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	17											108	98	102					17																	72846013		2203	4300	6503	70357608	SO:0001819	synonymous_variant	2905				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1551C>T	17.37:g.72846013G>A			70357608	B2RTT1	Silent	SNP	ENST00000293190.5	37	CCDS32724.1																																																																																				0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			A	72846013	G	A	72846013	2	1	302	1	0	0	0	0	0	0	0	1	6781	1103	39	1		1	GRIN2C	17	72846013	Silent	SNP	G	TCGA-25-1628-01A-01W-0615-10	109082	72846013	8349197	17	16399											
GRB2	2885	hgsc.bcm.edu	37	17	73389683	73389683	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr17:73389683G>T	ENST00000392562.1	-	2	809	c.27C>A	c.(25-27)ttC>ttA	p.F9L	GRB2_ENST00000316615.5_Missense_Mutation_p.F9L|RP11-16C1.1_ENST00000578226.1_RNA|GRB2_ENST00000316804.5_Missense_Mutation_p.F9L|GRB2_ENST00000392563.1_Missense_Mutation_p.F9L|GRB2_ENST00000578961.1_Missense_Mutation_p.F9L|GRB2_ENST00000392564.1_Missense_Mutation_p.F9L			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	9	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.F9L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CAGTAGCTTTGAAGTCATATT	0.557																																																1	Substitution - Missense(1)	ovary(1)	17											301	240	260					17																	73389683		2203	4300	6503	70901278	SO:0001583	missense	2885				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"SH2 domain containing"	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.27C>A	17.37:g.73389683G>T	ENSP00000376345:p.Phe9Leu		70901278	P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380633	0.95945	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.87	5.87	0.94306	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	M	0.91717	3.235	0.80722	D	1	B;P	0.40909	0.321;0.732	B;P	0.59056	0.164;0.851	D	0.83547	0.0099	10	0.87932	D	0	-16.5535	19.8132	0.96556	0.0:0.0:1.0:0.0	.	9;9	P62993-2;P62993	.;GRB2_HUMAN	L	9	ENSP00000339007:F9L;ENSP00000376345:F9L;ENSP00000376347:F9L;ENSP00000376346:F9L;ENSP00000317360:F9L	ENSP00000317360:F9L	F	-	3	2	GRB2	70901278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.709000	0.68384	2.785000	0.95823	0.655000	0.94253	TTC		0.557	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			T	73389683	G	T	73389683	3	4	302	1	0	0	0	0	1	0	0	0	6758	1281	45	3	646	3	GRB2	17	73389683	Missense_Mutation	SNP	G	TCGA-25-1628-01A-01W-0615-10	543670	73389683	7805527	18	16400											
WDR7	23335	hgsc.bcm.edu	37	18	54603085	54603085	+	Silent	SNP	G	G	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr18:54603085G>A	ENST00000254442.3	+	23	3991	c.3780G>A	c.(3778-3780)tcG>tcA	p.S1260S	WDR7_ENST00000357574.3_Silent_p.S1227S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1260					hematopoietic progenitor cell differentiation (GO:0002244)			p.S1260S(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ATGCCCTCTCGCTCATTGCCA	0.527																																																2	Substitution - coding silent(2)	ovary(1)|breast(1)	18											84	85	85					18																	54603085		2203	4300	6503	52754083	SO:0001819	synonymous_variant	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3780G>A	18.37:g.54603085G>A			52754083	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	CCDS11962.1																																																																																				0.527	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			A	54603085	G	A	54603085	2	1	302	1	0	0	0	0	0	0	0	1	17320	1074	38	1		1	WDR7	18	54603085	Silent	SNP	G	TCGA-25-1628-01A-01W-0615-10		54603085	23474163	19	16401											
DSEL	92126	hgsc.bcm.edu	37	18	65181474	65181474	+	Silent	SNP	A	A	G			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr18:65181474A>G	ENST00000310045.7	-	2	1875	c.402T>C	c.(400-402)aaT>aaC	p.N134N	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	124					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.N134N(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAGGAGGCAGATTGTTACCAT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	18											114	101	106					18																	65181474		2203	4300	6503	63332454	SO:0001819	synonymous_variant	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.402T>C	18.37:g.65181474A>G			63332454	Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	CCDS11995.1																																																																																				0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		G	65181474	A	G	65181474	2	3	302	1	0	0	0	0	0	0	0	1	4775	330	12	4		4	DSEL	18	65181474	Silent	SNP	A	TCGA-25-1628-01A-01W-0615-10	10578389	65181474	12895774	20	16402											
SYDE1	85360	hgsc.bcm.edu	37	19	15222225	15222225	+	Silent	SNP	G	G	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr19:15222225G>A	ENST00000342784.2	+	5	1423	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L	SYDE1_ENST00000600252.1_Silent_p.L121L|SYDE1_ENST00000600440.1_Silent_p.L397L	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	464	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)	p.L464L(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTGAGGACCTGTACCCCGATA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	19											168	136	147					19																	15222225		2203	4300	6503	15083225	SO:0001819	synonymous_variant	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1392G>A	19.37:g.15222225G>A			15083225	Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	37	CCDS12324.1																																																																																				0.582	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		A	15222225	G	A	15222225	2	1	302	1	0	0	0	0	0	0	0	1	15435	1364	48	2		2	SYDE1	19	15222225	Silent	SNP	G	TCGA-25-1628-01A-01W-0615-10		15222225	43906758	21	16403											
NWD1	284434	hgsc.bcm.edu	37	19	16870240	16870240	+	Splice_Site	SNP	G	G	A			TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr19:16870240G>A	ENST00000552788.1	+	5	1973		c.e5+1		NWD1_ENST00000549814.1_Splice_Site|NWD1_ENST00000524140.2_Splice_Site|NWD1_ENST00000523826.1_Splice_Site|NWD1_ENST00000339803.6_Splice_Site|NWD1_ENST00000379808.3_Splice_Site			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1								ATP binding (GO:0005524)	p.?(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGCCCACAGGTAGGTCCAGG	0.632																																																1	Unknown(1)	ovary(1)	19											17	15	16					19																	16870240		2168	4257	6425	16731240	SO:0001630	splice_region_variant	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1973+1G>A	19.37:g.16870240G>A			16731240	C9J021|Q68CT3	Splice_Site	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	G	13.15	2.150887	0.37923	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5617	0.56286	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NWD1	16731240	1.000000	0.71417	0.986000	0.45419	0.235000	0.25334	7.485000	0.81204	2.044000	0.60594	0.542000	0.68232	.		0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	Intron	A	16870240	G	A	16870240	5	1	302	1	0	0	0	0	0	0	1	0	10781	1275	44	2	1579	2	NWD1	19	16870240	Splice_Site	SNP	G	TCGA-25-1628-01A-01W-0615-10	1648015	16870240	42258743	22	16404											
NCAN	1463	hgsc.bcm.edu	37	19	19334995	19334995	+	Missense_Mutation	SNP	G	G	A	rs112606625	byFrequency	TCGA-25-1628-01A-01W-0615-10	TCGA-25-1628-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	4862eda8-08f7-4e6a-9d73-bc4c021b9264	ea72c8ee-64de-401a-9ea2-98a8a9136d57	g.chr19:19334995G>A	ENST00000252575.6	+	4	740	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	214	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R214H(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTCTCTGACCGCACTGTTCGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											68	58	61					19																	19334995		2203	4300	6503	19195995	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.641G>A	19.37:g.19334995G>A	ENSP00000252575:p.Arg214His		19195995	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556236	0.45487	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.09445	2.98	4.75	2.62	0.31277	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.403904	0.18397	N	0.142478	T	0.05914	0.0154	N	0.17345	0.48	0.80722	D	1	B	0.27140	0.169	B	0.20384	0.029	T	0.32241	-0.9914	10	0.51188	T	0.08	-28.1963	5.7902	0.18357	0.3133:0.0:0.6867:0.0	.	214	O14594	NCAN_HUMAN	H	228;214	ENSP00000252575:R214H	ENSP00000252575:R214H	R	+	2	0	NCAN	19195995	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.136000	0.58004	0.997000	0.38969	0.561000	0.74099	CGC		0.592	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19334995	G	A	19334995	3	1	302	1	0	0	0	0	1	0	0	0	10204	1087	38	1	651	1	NCAN	19	19334995	Missense_Mutation	SNP	G	TCGA-25-1628-01A-01W-0615-10	2464755	19334995	39793988	23	16405											
EPS8L3	79574	hgsc.bcm.edu	37	1	110301725	110301725	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr1:110301725C>A	ENST00000361965.4	-	6	526	c.420G>T	c.(418-420)aaG>aaT	p.K140N	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.K140N|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000369805.3_Missense_Mutation_p.K140N	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	140						cytoplasm (GO:0005737)		p.K140N(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCAGGCTGGTCTTCAGTCGCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											31	30	30					1																	110301725		2203	4300	6503	110103248	SO:0001583	missense	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.420G>T	1.37:g.110301725C>A	ENSP00000355255:p.Lys140Asn		110103248	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611788	0.66558	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.31247	1.5;1.5;1.5	5.24	5.24	0.73138	Tensin phosphotyrosine-binding domain (1);	1.138310	0.06029	N	0.652726	T	0.20129	0.0484	L	0.40543	1.245	0.09310	N	0.999994	B;P;B;B	0.39759	0.42;0.687;0.42;0.441	B;B;P;B	0.45610	0.329;0.432;0.487;0.307	T	0.28364	-1.0046	10	0.17369	T	0.5	-6.5598	14.6737	0.68964	0.0:1.0:0.0:0.0	.	140;140;140;140	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	N	140	ENSP00000354551:K140N;ENSP00000358820:K140N;ENSP00000355255:K140N	ENSP00000354551:K140N	K	-	3	2	EPS8L3	110103248	0.004000	0.15560	0.661000	0.29709	0.781000	0.44180	1.871000	0.39539	2.606000	0.88127	0.655000	0.94253	AAG		0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		A	110301725	C	A	110301725	3	1	303	1	0	0	0	0	1	0	0	0	5197	912	32	3	1420	3	EPS8L3	1	110301725	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10		110301725	138948896	1	16406											
CHD1L	9557	hgsc.bcm.edu	37	1	146756124	146756124	+	Silent	SNP	T	T	C			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr1:146756124T>C	ENST00000369258.4	+	16	1826	c.1806T>C	c.(1804-1806)ctT>ctC	p.L602L	CHD1L_ENST00000361293.5_Silent_p.L321L|CHD1L_ENST00000431239.1_Silent_p.L508L|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Silent_p.L398L	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	602					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.L602L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AGAAAACCCTTTTGGAGAAAG	0.338																																																1	Substitution - coding silent(1)	ovary(1)	1											95	98	97					1																	146756124		2203	4300	6503	145222748	SO:0001819	synonymous_variant	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1806T>C	1.37:g.146756124T>C			145222748	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	CCDS927.1																																																																																				0.338	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		C	146756124	T	C	146756124	2	2	303	1	0	0	0	0	0	0	0	1	3324	1828	64	4		4	CHD1L	1	146756124	Silent	SNP	T	TCGA-25-1630-01A-01W-0615-10	36454399	146756124	102494497	2	16407											
YY1AP1	55249	hgsc.bcm.edu	37	1	155629630	155629630	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr1:155629630C>G	ENST00000295566.4	-	11	2232	c.2209G>C	c.(2209-2211)Gga>Cga	p.G737R	YY1AP1_ENST00000368340.5_Missense_Mutation_p.G809R|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G680R|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G680R|YY1AP1_ENST00000368330.2_Missense_Mutation_p.G691R|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G660R|YY1AP1_ENST00000347088.5_Missense_Mutation_p.G691R|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G660R|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.G829R|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G671R|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G537R|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G691R	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	737					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G737R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCTGACAATCCTTCTTGGCAC	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											151	135	141					1																	155629630		2203	4300	6503	153896254	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2209G>C	1.37:g.155629630C>G	ENSP00000295566:p.Gly737Arg		153896254	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	13.01	2.108138	0.37242	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.23754	1.93;1.93;1.94;1.93;1.93;1.91;1.92;1.93;1.94;1.94;1.89;1.94	2.57	1.6	0.23607	.	.	.	.	.	T	0.20700	0.0498	L	0.43152	1.355	0.09310	N	0.999997	B;B;D;B;P	0.76494	0.049;0.383;0.999;0.376;0.617	B;B;D;B;B	0.83275	0.06;0.216;0.996;0.234;0.226	T	0.04360	-1.0957	9	0.56958	D	0.05	.	3.8477	0.08942	0.0:0.5902:0.2583:0.1514	.	829;671;737;691;809	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	R	680;691;660;691;680;809;737;691;660;671;829;537	ENSP00000352134:G680R;ENSP00000347686:G691R;ENSP00000311138:G660R;ENSP00000316079:G691R;ENSP00000355298:G680R;ENSP00000357324:G809R;ENSP00000295566:G737R;ENSP00000357314:G691R;ENSP00000385791:G660R;ENSP00000385390:G671R;ENSP00000357323:G829R;ENSP00000437926:G537R	ENSP00000295566:G737R	G	-	1	0	YY1AP1	153896254	0.000000	0.05858	0.254000	0.24359	0.773000	0.43773	0.110000	0.15437	0.373000	0.24621	0.313000	0.20887	GGA		0.527	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		G	155629630	C	G	155629630	3	3	303	1	0	0	0	0	1	0	0	0	17508	690	24	3	185	3	YY1AP1	1	155629630	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10	8873506	155629630	93620991	3	16408											
FCRL3	115352	hgsc.bcm.edu	37	1	157665981	157665981	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr1:157665981T>A	ENST00000368184.3	-	7	1272	c.981A>T	c.(979-981)agA>agT	p.R327S	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.R327S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	327	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R327S(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTTCTTACTCTTCCTTCTT	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											127	117	120					1																	157665981		2203	4300	6503	155932605	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.981A>T	1.37:g.157665981T>A	ENSP00000357167:p.Arg327Ser		155932605	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	T	8.146	0.786355	0.16189	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.11277	2.79;2.79	4.63	-1.8	0.07907	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.504280	0.04331	N	0.352372	T	0.01124	0.0037	N	0.04260	-0.245	0.09310	N	1	B;B;B	0.15141	0.012;0.004;0.01	B;B;B	0.19666	0.026;0.017;0.022	T	0.45071	-0.9286	10	0.13108	T	0.6	.	4.5447	0.12074	0.4516:0.0959:0.0:0.4525	.	327;232;327	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	S	327	ENSP00000357169:R327S;ENSP00000357167:R327S	ENSP00000292392:R327S	R	-	3	2	FCRL3	155932605	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.719000	0.01873	-0.122000	0.11766	0.383000	0.25322	AGA		0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		A	157665981	T	A	157665981	3	1	303	1	0	0	0	0	1	0	0	0	5796	1548	54	5	1259	5	FCRL3	1	157665981	Missense_Mutation	SNP	T	TCGA-25-1630-01A-01W-0615-10	2036351	157665981	91584640	4	16409											
SLAMF7	57823	hgsc.bcm.edu	37	1	160718118	160718118	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr1:160718118C>A	ENST00000368043.3	+	2	227	c.190C>A	c.(190-192)Cag>Aag	p.Q64K	SLAMF7_ENST00000441662.2_Missense_Mutation_p.Q64K|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000359331.4_Missense_Mutation_p.Q64K|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Missense_Mutation_p.Q64K	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	64	Ig-like V-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q64K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGTCACCATACAGCCAGAAGG	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											67	65	66					1																	160718118		2203	4300	6503	158984742	SO:0001583	missense	57823			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.190C>A	1.37:g.160718118C>A	ENSP00000357022:p.Gln64Lys		158984742	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	C	4.894	0.166125	0.09339	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.72	-1.3	0.09259	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.487974	0.22887	N	0.054423	T	0.23410	0.0566	L	0.50333	1.59	0.21604	N	0.999629	B;B;B;B	0.30634	0.114;0.114;0.288;0.134	B;B;B;B	0.31614	0.079;0.079;0.1;0.133	T	0.45991	-0.9223	10	0.02654	T	1	-1.4593	9.4609	0.38785	0.1937:0.2727:0.5336:0.0	.	64;64;64;64	B4DPY3;B4DPU4;A8K3U1;Q9NQ25	.;.;.;SLAF7_HUMAN	K	64	ENSP00000416592:Q64K;ENSP00000405605:Q64K;ENSP00000357022:Q64K;ENSP00000352281:Q64K	ENSP00000352281:Q64K	Q	+	1	0	SLAMF7	158984742	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-1.439000	0.02414	-0.038000	0.13624	0.650000	0.86243	CAG		0.502	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181		A	160718118	C	A	160718118	3	1	303	1	0	0	0	0	1	0	0	0	14372	479	17	3	196	3	SLAMF7	1	160718118	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10	3052137	160718118	88532503	5	16410											
DCAF6	55827	hgsc.bcm.edu	37	1	168032995	168032995	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr1:168032995A>G	ENST00000312263.6	+	15	2368	c.2164A>G	c.(2164-2166)Atg>Gtg	p.M722V	DCAF6_ENST00000367843.3_Missense_Mutation_p.M742V|DCAF6_ENST00000432587.2_Missense_Mutation_p.M782V|DCAF6_ENST00000367840.3_Missense_Mutation_p.M813V	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	722					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.M742V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTCCAGGACAATGGTACCAAA	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											94	93	93					1																	168032995		2203	4300	6503	166299619	SO:0001583	missense	55827			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2164A>G	1.37:g.168032995A>G	ENSP00000311949:p.Met722Val		166299619	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238902	0.58995	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.084494	0.85682	D	0.000000	T	0.77718	0.4172	L	0.36672	1.1	0.46260	D	0.998956	B;B;B;P;P	0.51653	0.011;0.402;0.019;0.656;0.947	B;B;B;P;D	0.65684	0.015;0.171;0.107;0.558;0.937	T	0.75025	-0.3463	9	0.13108	T	0.6	.	15.8679	0.79080	1.0:0.0:0.0:0.0	.	782;395;813;722;742	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	V	742;782;722;813	ENSP00000356817:M742V;ENSP00000396238:M782V;ENSP00000311949:M722V;ENSP00000356814:M813V	ENSP00000311949:M722V	M	+	1	0	DCAF6	166299619	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.792000	0.91856	2.166000	0.68216	0.459000	0.35465	ATG		0.363	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		G	168032995	A	G	168032995	3	3	303	1	0	0	0	0	1	0	0	0	4274	101	4	4	2286	4	DCAF6	1	168032995	Missense_Mutation	SNP	A	TCGA-25-1630-01A-01W-0615-10	7314877	168032995	81217626	6	16411											
TOR1AIP1	26092	hgsc.bcm.edu	37	1	179886684	179886684	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr1:179886684C>A	ENST00000606911.2	+	10	1253	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.F233L|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.F355L|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.F370L|TOR1AIP1_ENST00000474875.1_3'UTR			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	354					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)	p.F354L(2)|p.F354F(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GTTTTTGGTTCTTTAGTACTC	0.448																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)|central_nervous_system(1)	1											115	124	121					1																	179886684		2203	4300	6503	178153307	SO:0001583	missense	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1062C>A	1.37:g.179886684C>A	ENSP00000476687:p.Phe354Leu		178153307	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.32|13.32	2.201182|2.201182	0.38905|0.38905	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000528443;ENST00000271583;ENST00000435319|ENST00000447964	T;T;T|.	0.29142|.	1.58;1.58;1.58|.	5.96|5.96	2.95|2.95	0.34219|0.34219	.|.	1.146510|.	0.06179|.	N|.	0.679180|.	T|T	0.33000|0.33000	0.0848|0.0848	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.20075|0.20075	-1.0286|-1.0286	9|5	.|.	.|.	.|.	0.8852|0.8852	5.4225|5.4225	0.16407|0.16407	0.0:0.502:0.2835:0.2145|0.0:0.502:0.2835:0.2145	.|.	354|.	Q5JTV8|.	TOIP1_HUMAN|.	L|Y	355;370;354|89	ENSP00000435365:F355L;ENSP00000271583:F370L;ENSP00000393292:F354L|.	.|.	F|S	+|+	3|2	2|0	TOR1AIP1|TOR1AIP1	178153307|178153307	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.402000|0.402000	0.30811|0.30811	1.464000|1.464000	0.35288|0.35288	0.834000|0.834000	0.34852|0.34852	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.448	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		A	179886684	C	A	179886684	3	1	303	1	0	0	0	0	1	0	0	0	16372	912	32	3	1100	3	TOR1AIP1	1	179886684	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10	11853689	179886684	69363937	7	16412											
HMCN1	83872	hgsc.bcm.edu	37	1	185878523	185878523	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr1:185878523A>G	ENST00000271588.4	+	5	905	c.676A>G	c.(676-678)Aca>Gca	p.T226A	HMCN1_ENST00000367492.2_Missense_Mutation_p.T226A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	226					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T226A(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTTTTATCCACAGATCATTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											105	99	101					1																	185878523		2203	4300	6503	184145146	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.676A>G	1.37:g.185878523A>G	ENSP00000271588:p.Thr226Ala		184145146	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.285296	0.80803	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64085	-0.08;-0.08	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	L	0.47716	1.5	0.58432	D	0.999998	D	0.58620	0.983	P	0.53313	0.723	T	0.66654	-0.5869	10	0.40728	T	0.16	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	226	Q96RW7	HMCN1_HUMAN	A	226	ENSP00000271588:T226A;ENSP00000356462:T226A	ENSP00000271588:T226A	T	+	1	0	HMCN1	184145146	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.185000	0.72013	2.330000	0.79161	0.477000	0.44152	ACA		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	185878523	A	G	185878523	3	3	303	1	0	0	0	0	1	0	0	0	7220	159	6	4	694	4	HMCN1	1	185878523	Missense_Mutation	SNP	A	TCGA-25-1630-01A-01W-0615-10	5991839	185878523	63372098	8	16413											
HEATR1	55127	hgsc.bcm.edu	37	1	236757341	236757341	+	Silent	SNP	C	C	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr1:236757341C>A	ENST00000366582.3	-	9	1278	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	HEATR1_ENST00000483073.1_5'Flank|HEATR1_ENST00000366581.2_Silent_p.L388L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	388					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.L388L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTTGTTCTTCAGTGATATTT	0.299																																																1	Substitution - coding silent(1)	ovary(1)	1											145	143	144					1																	236757341		2203	4299	6502	234823964	SO:0001819	synonymous_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1164G>T	1.37:g.236757341C>A			234823964	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	CCDS31066.1																																																																																				0.299	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		A	236757341	C	A	236757341	2	1	303	1	0	0	0	0	0	0	0	1	7027	813	29	3		3	HEATR1	1	236757341	Silent	SNP	C	TCGA-25-1630-01A-01W-0615-10	50878818	236757341	12493280	9	16414											
GCKR	2646	hgsc.bcm.edu	37	2	27730117	27730117	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr2:27730117G>A	ENST00000264717.2	+	13	1145	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	GCKR_ENST00000424318.2_Missense_Mutation_p.R171H	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	361	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)	p.R361H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CGAGATGTCCGTGGCTTTCTC	0.493																																																1	Substitution - Missense(1)	ovary(1)	2											238	247	244					2																	27730117		2203	4300	6503	27583621	SO:0001583	missense	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1082G>A	2.37:g.27730117G>A	ENSP00000264717:p.Arg361His		27583621	A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	CCDS1757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.718956|2.718956	0.48622|0.48622	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000264717;ENST00000424318|ENST00000411584	D;D|.	0.83914|.	-1.78;-1.78|.	4.8|4.8	3.01|3.01	0.34805|0.34805	Sugar isomerase (SIS) (1);|.	0.230299|.	0.36034|.	N|.	0.002836|.	T|T	0.48040|0.48040	0.1478|0.1478	L|L	0.45051|0.45051	1.395|1.395	0.34531|0.34531	D|D	0.709184|0.709184	D;D;D|.	0.65815|.	0.995;0.965;0.965|.	P;P;P|.	0.55508|.	0.777;0.467;0.697|.	T|T	0.54649|0.54649	-0.8262|-0.8262	10|5	0.72032|.	D|.	0.01|.	0.0093|0.0093	7.281|7.281	0.26312|0.26312	0.2003:0.0:0.7997:0.0|0.2003:0.0:0.7997:0.0	.|.	171;359;361|.	F5H1P6;A8K731;Q14397|.	.;.;GCKR_HUMAN|.	H|M	361;171|62	ENSP00000264717:R361H;ENSP00000409109:R171H|.	ENSP00000264717:R361H|.	R|V	+|+	2|1	0|0	GCKR|GCKR	27583621|27583621	0.901000|0.901000	0.30685|0.30685	0.919000|0.919000	0.36401|0.36401	0.926000|0.926000	0.56050|0.56050	0.550000|0.550000	0.23345|0.23345	0.613000|0.613000	0.30089|0.30089	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.493	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		A	27730117	G	A	27730117	3	1	303	1	0	0	0	0	1	0	0	0	6294	1145	40	1	1132	1	GCKR	2	27730117	Missense_Mutation	SNP	G	TCGA-25-1630-01A-01W-0615-10		27730117	215469256	10	16415											
APLF	200558	hgsc.bcm.edu	37	2	68740805	68740805	+	Silent	SNP	C	C	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr2:68740805C>T	ENST00000303795.4	+	5	786	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	205					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.I205I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TACCAGCAATCAGTGGAGGTA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	2											85	86	86					2																	68740805		2203	4299	6502	68594309	SO:0001819	synonymous_variant	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.615C>T	2.37:g.68740805C>T			68594309	A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	CCDS1888.1																																																																																				0.358	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		T	68740805	C	T	68740805	2	4	303	1	0	0	0	0	0	0	0	1	776	816	29	2		2	APLF	2	68740805	Silent	SNP	C	TCGA-25-1630-01A-01W-0615-10	41010688	68740805	174458568	11	16416											
ATG3	64422	hgsc.bcm.edu	37	3	112269052	112269052	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr3:112269052C>G	ENST00000283290.5	-	4	656	c.222G>C	c.(220-222)ttG>ttC	p.L74F	ATG3_ENST00000402314.2_Missense_Mutation_p.L74F|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	74					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)	p.L74F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						TTTTGGTTACCAAAAATTGTT	0.308																																																1	Substitution - Missense(1)	ovary(1)	3											119	116	117					3																	112269052		2203	4298	6501	113751742	SO:0001583	missense	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.222G>C	3.37:g.112269052C>G	ENSP00000283290:p.Leu74Phe		113751742	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398046	0.42512	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.93	5.93	0.95920	Autophagy-related protein 3, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88162	0.2858	9	0.87932	D	0	-17.4034	12.4449	0.55645	0.0:0.9227:0.0:0.0773	.	74;74	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	F	74	.	ENSP00000283290:L74F	L	-	3	2	ATG3	113751742	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	1.372000	0.34261	2.815000	0.96918	0.561000	0.74099	TTG		0.308	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		G	112269052	C	G	112269052	3	3	303	1	0	0	0	0	1	0	0	0	1095	593	21	3	758	3	ATG3	3	112269052	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10		112269052	85753378	12	16417											
SPATA18	132671	hgsc.bcm.edu	37	4	52936032	52936032	+	Silent	SNP	G	G	C			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr4:52936032G>C	ENST00000295213.4	+	5	842	c.468G>C	c.(466-468)tcG>tcC	p.S156S	SPATA18_ENST00000419395.2_Intron|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	156					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.S156S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGAACAGATCGGCCATATCCC	0.338																																																1	Substitution - coding silent(1)	ovary(1)	4											58	58	58					4																	52936032		2203	4300	6503	52630789	SO:0001819	synonymous_variant	132671			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.468G>C	4.37:g.52936032G>C			52630789	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	CCDS3489.1																																																																																				0.338	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		C	52936032	G	C	52936032	2	2	303	1	0	0	0	0	0	0	0	1	15005	1103	39	3		3	SPATA18	4	52936032	Silent	SNP	G	TCGA-25-1630-01A-01W-0615-10		52936032	138218244	13	16418											
GPRIN3	285513	hgsc.bcm.edu	37	4	90169233	90169233	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr4:90169233G>C	ENST00000609438.1	-	2	2547	c.2029C>G	c.(2029-2031)Cag>Gag	p.Q677E	GPRIN3_ENST00000333209.4_Missense_Mutation_p.Q677E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	677								p.Q677E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CGCTTGGACTGTTTCAGCTGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	4											62	59	61					4																	90169233		2203	4300	6503	90388256	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2029C>G	4.37:g.90169233G>C	ENSP00000476603:p.Gln677Glu		90388256	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658030	0.67586	.	.	ENSG00000185477	ENST00000333209	T	0.21734	1.99	5.55	4.68	0.58851	.	0.000000	0.31221	N	0.008033	T	0.35158	0.0922	L	0.29908	0.895	0.34711	D	0.727781	D	0.89917	1.0	D	0.74348	0.983	T	0.51529	-0.8694	10	0.72032	D	0.01	-10.5257	16.164	0.81739	0.0:0.1336:0.8664:0.0	.	677	Q6ZVF9	GRIN3_HUMAN	E	677	ENSP00000328672:Q677E	ENSP00000328672:Q677E	Q	-	1	0	GPRIN3	90388256	1.000000	0.71417	0.988000	0.46212	0.801000	0.45260	3.223000	0.51231	1.272000	0.44329	0.655000	0.94253	CAG		0.542	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		C	90169233	G	C	90169233	3	2	303	1	0	0	0	0	1	0	0	0	6731	1386	48	3	305	3	GPRIN3	4	90169233	Missense_Mutation	SNP	G	TCGA-25-1630-01A-01W-0615-10	37233201	90169233	100985043	14	16419											
ADCY2	108	hgsc.bcm.edu	37	5	7712980	7712980	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr5:7712980G>T	ENST00000338316.4	+	11	1679	c.1590G>T	c.(1588-1590)atG>atT	p.M530I	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.M350I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	530					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.M530I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATGTACCCATGGGTCAGCATA	0.299																																																1	Substitution - Missense(1)	ovary(1)	5											121	117	118					5																	7712980		2203	4300	6503	7765980	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1590G>T	5.37:g.7712980G>T	ENSP00000342952:p.Met530Ile		7765980	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035832	0.54896	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.76316	-1.01;-1.01	5.88	5.88	0.94601	.	0.134749	0.64402	D	0.000003	T	0.70842	0.3270	L	0.34521	1.04	0.50632	D	0.999883	B;B	0.06786	0.0;0.001	B;B	0.11329	0.006;0.004	T	0.63310	-0.6666	10	0.33940	T	0.23	.	18.4219	0.90594	0.0:0.0:1.0:0.0	.	350;530	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	530;363;350	ENSP00000342952:M530I;ENSP00000444803:M350I	ENSP00000342952:M530I	M	+	3	0	ADCY2	7765980	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.535000	0.67173	2.777000	0.95525	0.551000	0.68910	ATG		0.299	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7712980	G	T	7712980	3	4	303	1	0	0	0	0	1	0	0	0	294	1348	47	3	1632	3	ADCY2	5	7712980	Missense_Mutation	SNP	G	TCGA-25-1630-01A-01W-0615-10		7712980	173202280	15	16420											
TRIO	7204	hgsc.bcm.edu	37	5	14482753	14482753	+	Missense_Mutation	SNP	T	T	A	rs377179966		TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr5:14482753T>A	ENST00000344204.4	+	46	6552	c.6528T>A	c.(6526-6528)gaT>gaA	p.D2176E	TRIO_ENST00000537187.1_Missense_Mutation_p.D2176E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2176	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D2176E(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGACCAAGATGCAGGACTTC	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											95	88	90					5																	14482753		2203	4300	6503	14535753	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6528T>A	5.37:g.14482753T>A	ENSP00000339299:p.Asp2176Glu		14535753	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.202663	0.38905	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.11063	2.81;2.81	5.0	-2.56	0.06268	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053268	0.64402	D	0.000001	T	0.06142	0.0159	N	0.17723	0.515	0.25929	N	0.983011	B;B	0.14805	0.011;0.002	B;B	0.15870	0.014;0.005	T	0.37407	-0.9707	10	0.15952	T	0.53	.	14.3711	0.66840	0.0:0.5801:0.0:0.4199	.	2176;2176	O75962-5;O75962	.;TRIO_HUMAN	E	2176;2176;1863	ENSP00000339299:D2176E;ENSP00000446348:D2176E	ENSP00000339299:D2176E	D	+	3	2	TRIO	14535753	0.225000	0.23685	0.019000	0.16419	0.975000	0.68041	0.017000	0.13399	-0.451000	0.07097	0.459000	0.35465	GAT		0.483	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		A	14482753	T	A	14482753	3	1	303	1	0	0	0	0	1	0	0	0	16552	1461	51	5	6710	5	TRIO	5	14482753	Missense_Mutation	SNP	T	TCGA-25-1630-01A-01W-0615-10	6769773	14482753	166432507	16	16421											
CCNH	902	hgsc.bcm.edu	37	5	86700747	86700747	+	Silent	SNP	C	C	T	rs371391295		TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr5:86700747C>T	ENST00000256897.4	-	5	827	c.603G>A	c.(601-603)acG>acA	p.T201T	CCNH_ENST00000504878.1_Silent_p.T127T|CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000508855.1_Silent_p.T127T	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	201					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)	p.T201T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		GGTAAGCATCCGTCAATGCAA	0.388								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - coding silent(1)	ovary(1)	5											94	95	94					5																	86700747		2203	4300	6503	86736503	SO:0001819	synonymous_variant	902			U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"General transcription factor IIH complex subunits"	1594	protein-coding gene	gene with protein product	"CDK-activating kinase complex subunit", "cyclin-dependent kinase-activating kinase complex subunit", "MO15-associated protein", "CAK complex subunit"	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.603G>A	5.37:g.86700747C>T			86736503	Q53X72|Q8TBL9	Silent	SNP	ENST00000256897.4	37	CCDS4064.1																																																																																				0.388	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		T	86700747	C	T	86700747	2	4	303	1	0	0	0	0	0	0	0	1	2925	639	23	1		1	CCNH	5	86700747	Silent	SNP	C	TCGA-25-1630-01A-01W-0615-10	72217994	86700747	94214513	17	16422											
TRIM40	135644	hgsc.bcm.edu	37	6	30115574	30115574	+	Silent	SNP	C	C	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr6:30115574C>G	ENST00000396581.1	+	6	1148	c.762C>G	c.(760-762)ccC>ccG	p.P254P	TRIM40_ENST00000307859.4_Silent_p.P225P|TRIM40_ENST00000376724.2_Silent_p.P254P			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	254					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)	p.P225P(1)		ovary(1)	1						TTCTTCAGCCCCCTCAGAAGC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	6											82	85	84					6																	30115574		2203	4300	6503	30223553	SO:0001819	synonymous_variant	135644			AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18736	protein-coding gene	gene with protein product			"tripartite motif-containing 40"				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.762C>G	6.37:g.30115574C>G			30223553	Q5SRJ6|Q5SS36|Q8TD96	Silent	SNP	ENST00000396581.1	37																																																																																					0.502	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			G	30115574	C	G	30115574	2	3	303	1	0	0	0	0	0	0	0	1	16515	610	22	3		3	TRIM40	6	30115574	Silent	SNP	C	TCGA-25-1630-01A-01W-0615-10		30115574	140999493	18	16423											
TINAG	27283	hgsc.bcm.edu	37	6	54191632	54191632	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr6:54191632G>A	ENST00000259782.4	+	4	638	c.542G>A	c.(541-543)gGa>gAa	p.G181E	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.G163E|TINAG_ENST00000370869.3_Missense_Mutation_p.G177E	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	181					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G181E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CAATTTTGGGGAATGACTTTA	0.358																																																1	Substitution - Missense(1)	ovary(1)	6											147	135	139					6																	54191632		2203	4300	6503	54299591	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.542G>A	6.37:g.54191632G>A	ENSP00000259782:p.Gly181Glu		54299591	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390760	0.82902	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.62498	0.02;0.02;0.02	5.82	5.82	0.92795	.	0.183056	0.38897	N	0.001538	T	0.76579	0.4007	M	0.81341	2.54	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	T	0.78463	-0.2194	10	0.62326	D	0.03	.	15.6145	0.76753	0.0:0.0:1.0:0.0	.	181	Q9UJW2	TINAG_HUMAN	E	177;131;181;163	ENSP00000359906:G177E;ENSP00000259782:G181E;ENSP00000359901:G163E	ENSP00000259782:G181E	G	+	2	0	TINAG	54299591	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.846000	0.55888	2.751000	0.94390	0.643000	0.83706	GGA		0.358	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		A	54191632	G	A	54191632	3	1	303	1	0	0	0	0	1	0	0	0	15921	1174	41	2	556	2	TINAG	6	54191632	Missense_Mutation	SNP	G	TCGA-25-1630-01A-01W-0615-10	24076058	54191632	116923435	19	16424											
BEND3	57673	hgsc.bcm.edu	37	6	107390067	107390067	+	Silent	SNP	C	C	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr6:107390067C>T	ENST00000369042.1	-	4	2518	c.2328G>A	c.(2326-2328)cgG>cgA	p.R776R	BEND3_ENST00000429433.2_Silent_p.R776R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	776	BEN 4. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.R776R(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGAGCCGCAGCCGCGTGGGGT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	6											52	52	52					6																	107390067		2202	4300	6502	107496760	SO:0001819	synonymous_variant	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2328G>A	6.37:g.107390067C>T			107496760	A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	CCDS34507.1																																																																																				0.607	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		T	107390067	C	T	107390067	2	4	303	1	0	0	0	0	0	0	0	1	1399	726	26	2		2	BEND3	6	107390067	Silent	SNP	C	TCGA-25-1630-01A-01W-0615-10	53198435	107390067	63725000	20	16425											
MEOX2	4223	hgsc.bcm.edu	37	7	15652115	15652115	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr7:15652115T>G	ENST00000262041.5	-	3	1221	c.812A>C	c.(811-813)gAg>gCg	p.E271A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	271					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.E271A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCCCGACAGCTCTGATGGGAG	0.532																																					Esophageal Squamous(140;197 1769 16409 18257 29929)											1	Substitution - Missense(1)	ovary(1)	7											189	178	182					7																	15652115		2203	4300	6503	15618640	SO:0001583	missense	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.812A>C	7.37:g.15652115T>G	ENSP00000262041:p.Glu271Ala		15618640	B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074578	0.36566	.	.	ENSG00000106511	ENST00000262041	D	0.90261	-2.64	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.91143	0.7211	L	0.27053	0.805	0.58432	D	0.999999	D	0.63880	0.993	D	0.68192	0.956	D	0.89582	0.3821	10	0.24483	T	0.36	-19.0188	15.636	0.76953	0.0:0.0:0.0:1.0	.	271	P50222	MEOX2_HUMAN	A	271	ENSP00000262041:E271A	ENSP00000262041:E271A	E	-	2	0	MEOX2	15618640	1.000000	0.71417	0.991000	0.47740	0.150000	0.21749	7.665000	0.83852	2.098000	0.63641	0.460000	0.39030	GAG		0.532	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		G	15652115	T	G	15652115	3	3	303	1	0	0	0	0	1	0	0	0	9474	1551	54	5	106	5	MEOX2	7	15652115	Missense_Mutation	SNP	T	TCGA-25-1630-01A-01W-0615-10		15652115	143486548	21	16426											
ZNF277	11179	hgsc.bcm.edu	37	7	111958284	111958284	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr7:111958284T>G	ENST00000361822.3	+	5	642	c.513T>G	c.(511-513)ttT>ttG	p.F171L	ZNF277_ENST00000450657.1_Missense_Mutation_p.F171L	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	171					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.F171L(1)		breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATACCAATTTTCATGGCGTTT	0.328																																																1	Substitution - Missense(1)	ovary(1)	7											119	112	114					7																	111958284		2203	4300	6503	111745520	SO:0001583	missense	11179			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.513T>G	7.37:g.111958284T>G	ENSP00000354501:p.Phe171Leu		111745520	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902174	0.52227	.	.	ENSG00000198839	ENST00000361822;ENST00000450657	T;T	0.34859	1.34;1.38	6.03	-0.455	0.12193	.	0.046796	0.85682	D	0.000000	T	0.32852	0.0843	L	0.61218	1.895	0.58432	D	0.999997	B;P	0.39404	0.073;0.672	B;B	0.41988	0.039;0.372	T	0.06250	-1.0837	10	0.49607	T	0.09	-22.8162	6.375	0.21503	0.1589:0.5253:0.0:0.3158	.	171;171	Q9NRM2;G5E9M4	ZN277_HUMAN;.	L	171	ENSP00000354501:F171L;ENSP00000402292:F171L	ENSP00000354501:F171L	F	+	3	2	ZNF277	111745520	0.998000	0.40836	0.406000	0.26421	0.741000	0.42261	0.369000	0.20416	-0.043000	0.13513	-0.256000	0.11100	TTT		0.328	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		G	111958284	T	G	111958284	3	3	303	1	0	0	0	0	1	0	0	0	17812	1780	62	5	531	5	ZNF277	7	111958284	Missense_Mutation	SNP	T	TCGA-25-1630-01A-01W-0615-10	96306169	111958284	47180379	22	16427											
TEX15	56154	hgsc.bcm.edu	37	8	30703199	30703199	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr8:30703199C>G	ENST00000256246.2	-	1	3409	c.3335G>C	c.(3334-3336)aGt>aCt	p.S1112T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1112	Ser-rich.				fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1112T(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTGAGACACTGCTAGCCAT	0.393																																																1	Substitution - Missense(1)	ovary(1)	8											88	79	82					8																	30703199		2202	4300	6502	30822741	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3335G>C	8.37:g.30703199C>G	ENSP00000256246:p.Ser1112Thr		30822741		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	4.234	0.042288	0.08196	.	.	ENSG00000133863	ENST00000256246	T	0.10288	2.89	5.58	-1.95	0.07548	.	1.091340	0.06848	N	0.796874	T	0.08492	0.0211	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.45702	-0.9243	10	0.87932	D	0	.	1.1815	0.01846	0.1508:0.2902:0.1479:0.4112	.	1112	Q9BXT5	TEX15_HUMAN	T	1112	ENSP00000256246:S1112T	ENSP00000256246:S1112T	S	-	2	0	TEX15	30822741	0.000000	0.05858	0.004000	0.12327	0.174000	0.22865	-0.089000	0.11180	0.011000	0.14865	0.563000	0.77884	AGT		0.393	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			G	30703199	C	G	30703199	3	3	303	1	0	0	0	0	1	0	0	0	15779	565	20	3	5050	3	TEX15	8	30703199	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10		30703199	115660823	23	16428											
CORO2A	7464	hgsc.bcm.edu	37	9	100888858	100888858	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr9:100888858T>A	ENST00000343933.5	-	11	1676	c.1419A>T	c.(1417-1419)gaA>gaT	p.E473D	CORO2A_ENST00000375077.4_Missense_Mutation_p.E473D	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	473					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.E473D(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTGGGGGGCATTCGAAAACGT	0.567																																																1	Substitution - Missense(1)	ovary(1)	9											116	120	119					9																	100888858		2203	4300	6503	99928679	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1419A>T	9.37:g.100888858T>A	ENSP00000343746:p.Glu473Asp		99928679	Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118916	0.77323	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.73897	-0.79;-0.79	5.23	2.88	0.33553	.	0.386521	0.28209	N	0.016195	T	0.72195	0.3430	L	0.58810	1.83	0.34866	D	0.743108	P;P	0.51449	0.945;0.945	P;P	0.50537	0.643;0.643	T	0.74928	-0.3497	10	0.36615	T	0.2	-8.4159	5.9167	0.19059	0.0:0.3796:0.0:0.6204	.	473;473	Q92828;A8K9S3	COR2A_HUMAN;.	D	473	ENSP00000343746:E473D;ENSP00000364218:E473D	ENSP00000343746:E473D	E	-	3	2	CORO2A	99928679	0.709000	0.27886	0.996000	0.52242	0.991000	0.79684	-0.326000	0.07965	0.816000	0.34421	0.459000	0.35465	GAA		0.567	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		A	100888858	T	A	100888858	3	1	303	1	0	0	0	0	1	0	0	0	3756	1490	52	5	166	5	CORO2A	9	100888858	Missense_Mutation	SNP	T	TCGA-25-1630-01A-01W-0615-10		100888858	40324573	24	16429											
PDZD7	79955	hgsc.bcm.edu	37	10	102780434	102780434	+	Splice_Site	SNP	T	T	C			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr10:102780434T>C	ENST00000370215.3	-	7	1094	c.869A>G	c.(868-870)gAg>gGg	p.E290G		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	290	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E290G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCGGCCGGTCTCCTGGGGAGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	10											46	44	45					10																	102780434		2203	4300	6503	102770424	SO:0001630	splice_region_variant	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.868-1A>G	10.37:g.102780434T>C			102770424	D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.080134	0.55753	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.16897	2.31	5.69	5.69	0.88448	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	N	0.17723	0.515	0.58432	D	0.999993	B;B	0.12013	0.004;0.005	B;B	0.17098	0.005;0.017	T	0.05989	-1.0852	10	0.54805	T	0.06	.	11.051	0.47889	0.0:0.072:0.0:0.928	.	290;290	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	G	290	ENSP00000359234:E290G	ENSP00000359234:E290G	E	-	2	0	PDZD7	102770424	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.924000	0.70054	2.170000	0.68504	0.379000	0.24179	GAG		0.587	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895	Missense_Mutation	C	102780434	T	C	102780434	5	2	303	1	0	0	0	0	0	0	1	0	11704	1565	54	4	700	4	PDZD7	10	102780434	Splice_Site	SNP	T	TCGA-25-1630-01A-01W-0615-10		102780434	32754313	25	16430											
CAT	847	hgsc.bcm.edu	37	11	34482828	34482828	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr11:34482828C>T	ENST00000241052.4	+	9	1176	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	363					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R363C(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGACACTCACCGCCATCGCCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	11											143	138	139					11																	34482828		2202	4298	6500	34439404	SO:0001583	missense	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1087C>T	11.37:g.34482828C>T	ENSP00000241052:p.Arg363Cys		34439404	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181182	0.78677	.	.	ENSG00000121691	ENST00000241052	D	0.93189	-3.18	4.98	4.07	0.47477	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97964	0.9330	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96868	0.9637	10	0.87932	D	0	-17.2675	8.345	0.32268	0.1931:0.7232:0.0:0.0836	.	363	P04040	CATA_HUMAN	C	363	ENSP00000241052:R363C	ENSP00000241052:R363C	R	+	1	0	CAT	34439404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.965000	0.56788	1.104000	0.41587	0.557000	0.71058	CGC		0.502	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		T	34482828	C	T	34482828	3	4	303	1	0	0	0	0	1	0	0	0	2686	652	23	1	1121	1	CAT	11	34482828	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10		34482828	100523688	26	16431											
PAMR1	25891	hgsc.bcm.edu	37	11	35457458	35457458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr11:35457458G>T	ENST00000378880.2	-	9	1771	c.1326C>A	c.(1324-1326)tgC>tgA	p.C442*	PAMR1_ENST00000378878.3_Nonsense_Mutation_p.C331*|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.C459*|PAMR1_ENST00000532848.1_Nonsense_Mutation_p.C402*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	442	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.C459*(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CACTAGGGATGCAGGATGGTG	0.537																																																1	Substitution - Nonsense(1)	ovary(1)	11											74	68	70					11																	35457458		2202	4298	6500	35414034	SO:0001587	stop_gained	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1326C>A	11.37:g.35457458G>T	ENSP00000368158:p.Cys442*		35414034	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Nonsense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	43	10.023918	0.99319	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	.	.	.	5.54	0.421	0.16451	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.3424	0.43887	0.4273:0.0:0.5727:0.0	.	.	.	.	X	459;442;331;402;419	.	ENSP00000278360:C459X	C	-	3	2	PAMR1	35414034	0.990000	0.36364	0.996000	0.52242	0.992000	0.81027	0.332000	0.19751	0.293000	0.22520	0.561000	0.74099	TGC		0.537	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		T	35457458	G	T	35457458	4	4	303	1	0	0	0	0	0	1	0	0	11413	1311	46	3	848	3	PAMR1	11	35457458	Nonsense_Mutation	SNP	G	TCGA-25-1630-01A-01W-0615-10	974630	35457458	99549058	27	16432											
PGR	5241	hgsc.bcm.edu	37	11	100922261	100922261	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr11:100922261T>A	ENST00000325455.5	-	5	3704	c.2251A>T	c.(2251-2253)Att>Ttt	p.I751F	PGR_ENST00000534013.1_Missense_Mutation_p.I157F|PGR_ENST00000263463.5_Missense_Mutation_p.I649F	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	751	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.I751F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GAATACTGAATGAGAGTTATC	0.348																																					Pancreas(124;2271 2354 21954 22882)											1	Substitution - Missense(1)	ovary(1)	11											108	106	107					11																	100922261		2203	4300	6503	100427471	SO:0001583	missense	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2251A>T	11.37:g.100922261T>A	ENSP00000325120:p.Ile751Phe		100427471	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114971	0.77210	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	T;T;D	0.99771	1.04;1.04;-6.71	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.072545	0.64402	D	0.000003	D	0.99711	0.9889	M	0.87971	2.92	0.45216	D	0.998227	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.76575	0.986;0.988;0.953	D	0.97815	1.0253	10	0.51188	T	0.08	.	10.4033	0.44241	0.1458:0.0:0.0:0.8542	.	649;751;132	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	F	751;157;649;649	ENSP00000325120:I751F;ENSP00000436561:I157F;ENSP00000263463:I649F	ENSP00000263463:I649F	I	-	1	0	PGR	100427471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.149000	0.71795	1.972000	0.57404	0.528000	0.53228	ATT		0.348	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			A	100922261	T	A	100922261	3	1	303	1	0	0	0	0	1	0	0	0	11805	1464	51	5	566	5	PGR	11	100922261	Missense_Mutation	SNP	T	TCGA-25-1630-01A-01W-0615-10	65464803	100922261	34084255	28	16433											
C11orf63	79864	hgsc.bcm.edu	37	11	122756572	122756572	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr11:122756572A>T	ENST00000531316.1	+	1	107	c.15A>T	c.(13-15)aaA>aaT	p.K5N	C11orf63_ENST00000227349.2_Missense_Mutation_p.K5N|C11orf63_ENST00000307257.6_Missense_Mutation_p.K5N			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	5					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.K5N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTAAACGTAAACTAATTCCCA	0.388																																																1	Substitution - Missense(1)	ovary(1)	11											72	75	74					11																	122756572		2202	4299	6501	122261782	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.15A>T	11.37:g.122756572A>T	ENSP00000431669:p.Lys5Asn		122261782	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833551	0.32421	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.59906	0.23;0.23	5.91	2.31	0.28768	.	0.369558	0.23455	N	0.047999	T	0.66645	0.2810	M	0.65975	2.015	0.09310	N	1	D;D	0.63046	0.992;0.992	P;P	0.62298	0.859;0.9	T	0.57631	-0.7778	10	0.72032	D	0.01	-14.1772	7.0596	0.25119	0.7212:0.0:0.2788:0.0	.	5;5	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	N	5	ENSP00000227349:K5N;ENSP00000431669:K5N	ENSP00000227349:K5N	K	+	3	2	C11orf63	122261782	0.000000	0.05858	0.024000	0.17045	0.190000	0.23558	0.295000	0.19065	0.142000	0.18901	0.533000	0.62120	AAA		0.388	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		T	122756572	A	T	122756572	3	4	303	1	0	0	0	0	1	0	0	0	1654	40	2	5	17	5	C11orf63	11	122756572	Missense_Mutation	SNP	A	TCGA-25-1630-01A-01W-0615-10	21834311	122756572	12249944	29	16434											
HS6ST3	266722	hgsc.bcm.edu	37	13	97484994	97484994	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr13:97484994G>A	ENST00000376705.2	+	2	982	c.958G>A	c.(958-960)Gtg>Atg	p.V320M		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	320					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.V320M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CCTCAGCCTGGTGGGCTGCTA	0.517																																																1	Substitution - Missense(1)	ovary(1)	13											79	78	78					13																	97484994		2203	4300	6503	96282995	SO:0001583	missense	266722			AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"Sulfotransferases, membrane-bound"	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.958G>A	13.37:g.97484994G>A	ENSP00000365895:p.Val320Met		96282995	Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717779	0.89205	.	.	ENSG00000185352	ENST00000376705	D	0.82526	-1.62	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	M	0.88570	2.965	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.93170	0.6565	10	0.87932	D	0	-25.6691	20.1935	0.98237	0.0:0.0:1.0:0.0	.	320	Q8IZP7	H6ST3_HUMAN	M	320	ENSP00000365895:V320M	ENSP00000365895:V320M	V	+	1	0	HS6ST3	96282995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.763000	0.94921	0.655000	0.94253	GTG		0.517	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		A	97484994	G	A	97484994	3	1	303	1	0	0	0	0	1	0	0	0	7372	1261	44	2	964	2	HS6ST3	13	97484994	Missense_Mutation	SNP	G	TCGA-25-1630-01A-01W-0615-10		97484994	17684884	30	16435											
NALCN	259232	hgsc.bcm.edu	37	13	102029076	102029076	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr13:102029076A>G	ENST00000251127.6	-	6	700	c.619T>C	c.(619-621)Tgt>Cgt	p.C207R	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.C207R|NALCN_ENST00000376200.5_Missense_Mutation_p.C207R	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	207					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.C207R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACAACACAGTGATAAGTA	0.303																																																1	Substitution - Missense(1)	ovary(1)	13											104	116	112					13																	102029076		2203	4298	6501	100827077	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.619T>C	13.37:g.102029076A>G	ENSP00000251127:p.Cys207Arg		100827077	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648590	0.67358	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98455	-4.94;-4.94;-4.94	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99120	1.0849	10	0.87932	D	0	.	14.2674	0.66129	1.0:0.0:0.0:0.0	.	207;207	F2Z323;Q8IZF0	.;NALCN_HUMAN	R	207	ENSP00000251127:C207R;ENSP00000365367:C207R;ENSP00000365373:C207R	ENSP00000251127:C207R	C	-	1	0	NALCN	100827077	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.962000	0.93254	1.853000	0.53794	0.528000	0.53228	TGT		0.303	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		G	102029076	A	G	102029076	3	3	303	1	0	0	0	0	1	0	0	0	10148	188	7	4	4753	4	NALCN	13	102029076	Missense_Mutation	SNP	A	TCGA-25-1630-01A-01W-0615-10	4544082	102029076	13140802	31	16436											
KDELC1	79070	hgsc.bcm.edu	37	13	103441515	103441515	+	Silent	SNP	C	C	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr13:103441515C>T	ENST00000376004.4	-	7	1476	c.1140G>A	c.(1138-1140)ttG>ttA	p.L380L	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	380						endoplasmic reticulum lumen (GO:0005788)		p.L380L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAACTAGCAAATATGGCA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	13											129	120	123					13																	103441515		2203	4300	6503	102239516	SO:0001819	synonymous_variant	79070			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1140G>A	13.37:g.103441515C>T			102239516	Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	37	CCDS9504.1																																																																																				0.398	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			T	103441515	C	T	103441515	2	4	303	1	0	0	0	0	0	0	0	1	8117	709	25	2		2	KDELC1	13	103441515	Silent	SNP	C	TCGA-25-1630-01A-01W-0615-10	1412439	103441515	11728363	32	16437											
APEX1	328	hgsc.bcm.edu	37	14	20925434	20925434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr14:20925434G>T	ENST00000216714.3	+	5	992	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Nonsense_Mutation_p.E242*|APEX1_ENST00000398030.4_Nonsense_Mutation_p.E242*	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	242					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)	p.E242*(1)		breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	AGGCTTCGGGGAATTACTGCA	0.512								Other BER factors																																								1	Substitution - Nonsense(1)	ovary(1)	14											129	115	120					14																	20925434		2203	4300	6503	19995274	SO:0001587	stop_gained	328			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.724G>T	14.37:g.20925434G>T	ENSP00000216714:p.Glu242*		19995274	Q969L5|Q99775	Nonsense_Mutation	SNP	ENST00000216714.3	37	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195055	0.94960	.	.	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000553681;ENST00000398030;ENST00000555839	.	.	.	5.79	4.9	0.64082	.	0.051090	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	10.6645	0.45721	0.1536:0.0:0.8464:0.0	.	.	.	.	X	242;242;242;242;213	.	ENSP00000216714:E242X	E	+	1	0	APEX1	19995274	1.000000	0.71417	0.967000	0.41034	0.994000	0.84299	2.625000	0.46452	1.457000	0.47850	0.655000	0.94253	GAA		0.512	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		T	20925434	G	T	20925434	4	4	303	1	0	0	0	0	0	1	0	0	769	1175	41	3	738	3	APEX1	14	20925434	Nonsense_Mutation	SNP	G	TCGA-25-1630-01A-01W-0615-10		20925434	86424106	33	16438											
SPRED1	161742	hgsc.bcm.edu	37	15	38643351	38643351	+	Missense_Mutation	SNP	A	A	C	rs111363743		TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr15:38643351A>C	ENST00000299084.4	+	7	1681	c.821A>C	c.(820-822)gAt>gCt	p.D274A		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	274	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.D274A(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTGGAAAGAGATGATGCTGAT	0.393									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)											1	Substitution - Missense(1)	ovary(1)	15											92	90	91					15																	38643351		2200	4297	6497	36430643	SO:0001583	missense	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.821A>C	15.37:g.38643351A>C	ENSP00000299084:p.Asp274Ala		36430643	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.128713	0.37533	.	.	ENSG00000166068	ENST00000299084	D	0.86097	-2.07	5.97	5.97	0.96955	c-Kit-binding domain (1);	0.362178	0.34986	N	0.003532	T	0.77572	0.4150	L	0.42245	1.32	0.47511	D	0.999441	P	0.38922	0.651	B	0.27887	0.084	T	0.76421	-0.2965	10	0.21540	T	0.41	-9.043	16.4461	0.83932	1.0:0.0:0.0:0.0	.	274	Q7Z699	SPRE1_HUMAN	A	274	ENSP00000299084:D274A	ENSP00000299084:D274A	D	+	2	0	SPRED1	36430643	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.134000	0.71689	2.285000	0.76669	0.528000	0.53228	GAT		0.393	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			C	38643351	A	C	38643351	3	2	303	1	0	0	0	0	1	0	0	0	15094	333	12	5	847	5	SPRED1	15	38643351	Missense_Mutation	SNP	A	TCGA-25-1630-01A-01W-0615-10		38643351	63888041	34	16439											
KIF7	374654	hgsc.bcm.edu	37	15	90188643	90188643	+	Silent	SNP	G	G	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr15:90188643G>A	ENST00000394412.3	-	9	2038	c.1962C>T	c.(1960-1962)cgC>cgT	p.R654R		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	654	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R141R(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GACTCCCTGGGCGTGCCCCCG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	15											76	64	68					15																	90188643		2200	4299	6499	87989647	SO:0001819	synonymous_variant	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1962C>T	15.37:g.90188643G>A			87989647	Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	ENST00000394412.3	37	CCDS32325.2																																																																																				0.632	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		A	90188643	G	A	90188643	2	1	303	1	0	0	0	0	0	0	0	1	8309	1190	42	2		2	KIF7	15	90188643	Silent	SNP	G	TCGA-25-1630-01A-01W-0615-10	51545292	90188643	12342749	35	16440											
PRSS27	83886	hgsc.bcm.edu	37	16	2763551	2763551	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr16:2763551C>G	ENST00000302641.3	-	5	711	c.657G>C	c.(655-657)gaG>gaC	p.E219D	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.E219D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCTTCTTGCCCTCCTCGAAGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	16											229	164	186					16																	2763551		2198	4300	6498	2703552	SO:0001583	missense	83886			AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.657G>C	16.37:g.2763551C>G	ENSP00000306390:p.Glu219Asp		2703552		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	13.68	2.308476	0.40895	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.81499	-1.5	5.26	5.26	0.73747	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000046	T	0.76842	0.4044	N	0.12611	0.24	0.38870	D	0.956678	D;D	0.69078	0.98;0.997	P;P	0.61722	0.818;0.893	T	0.77466	-0.2577	10	0.33940	T	0.23	.	11.4577	0.50191	0.1799:0.8201:0.0:0.0	.	219;183	Q9BQR3;B3KP25	PRS27_HUMAN;.	D	219;183	ENSP00000306390:E219D	ENSP00000306390:E219D	E	-	3	2	PRSS27	2703552	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	1.551000	0.36233	2.460000	0.83146	0.442000	0.29010	GAG		0.592	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		G	2763551	C	G	2763551	3	3	303	1	0	0	0	0	1	0	0	0	12624	680	24	3	223	3	PRSS27	16	2763551	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10		2763551	87591202	36	16441											
TP53	7157	hgsc.bcm.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr17:7578413C>A	ENST00000269305.4	-	5	706	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000420246.2_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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"	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	17	GRCh37	CM070299	TP53	M							51	51	51					17																	7578413		2203	4300	6503	7519138	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.517G>T	17.37:g.7578413C>A	ENSP00000269305:p.Val173Leu		7519138	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743630	0.89663	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	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	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578413	C	A	7578413	3	1	303	1	0	0	0	0	1	0	0	0	16381	478	17	3	781	3	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10		7578413	73616797	37	16442			1	12		2	2	55	N	T_C	7.674929e-05
TP53	7157	hgsc.bcm.edu	37	17	7578467	7578467	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr17:7578467T>C	ENST00000269305.4	-	5	652	c.463A>G	c.(463-465)Acc>Gcc	p.T155A	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.T155A|TP53_ENST00000445888.2_Missense_Mutation_p.T155A|TP53_ENST00000420246.2_Missense_Mutation_p.T155A|TP53_ENST00000413465.2_Missense_Mutation_p.T155A|TP53_ENST00000455263.2_Missense_Mutation_p.T155A	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	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T155P(17)|p.T155A(10)|p.0?(8)|p.?(5)|p.P152fs*14(5)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.T155S(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)	CGGACGCGGGTGCCGGGCGGG	0.612		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"	67	Substitution - Missense(32)|Deletion - Frameshift(16)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	lung(18)|ovary(9)|oesophagus(7)|skin(6)|bone(5)|stomach(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|breast(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|urinary_tract(1)|liver(1)|prostate(1)	17											50	52	51					17																	7578467		2203	4300	6503	7519192	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.463A>G	17.37:g.7578467T>C	ENSP00000269305:p.Thr155Ala		7519192	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	.	.	.	.	.	.	.	.	.	.	T	3.177	-0.168719	0.06461	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53	5.59	0.31	0.15825	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.97371	0.9140	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B;B;B	0.25169	0.119;0.0;0.0;0.026;0.0;0.002;0.08	B;B;B;B;B;B;B	0.25291	0.059;0.005;0.001;0.017;0.009;0.028;0.02	D	0.95348	0.8444	10	0.05351	T	0.99	-6.4954	2.9983	0.06005	0.3258:0.3217:0.0:0.3525	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	A	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155A;ENSP00000352610:T155A;ENSP00000269305:T155A;ENSP00000398846:T155A;ENSP00000391127:T155A;ENSP00000391478:T155A;ENSP00000425104:T23A;ENSP00000423862:T62A;ENSP00000424104:T155A	ENSP00000269305:T155A	T	-	1	0	TP53	7519192	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.301000	0.08232	0.124000	0.18369	0.533000	0.62120	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578467	T	C	7578467	3	2	303	1	0	0	0	0	1	0	0	0	16381	1696	59	4	835	4	TP53	17	7578467	Missense_Mutation	SNP	T	TCGA-25-1630-01A-01W-0615-10	54	7578467	73616743	38	16443			1	12		2	2	55	N	T_C	7.674929e-05
PGAP3	93210	hgsc.bcm.edu	37	17	37844105	37844105	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr17:37844105T>C	ENST00000300658.4	-	1	255	c.163A>G	c.(163-165)Atc>Gtc	p.I55V	PGAP3_ENST00000429199.2_Missense_Mutation_p.I55V|PGAP3_ENST00000579146.1_Missense_Mutation_p.I55V|ERBB2_ENST00000578199.1_5'Flank|ERBB2_ENST00000406381.2_5'Flank|ERBB2_ENST00000584601.1_5'Flank|PGAP3_ENST00000378011.4_Missense_Mutation_p.I55V	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	55					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)	p.I55V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCATGTAGATTGGCTGGCGG	0.642																																																1	Substitution - Missense(1)	ovary(1)	17											21	20	20					17																	37844105		2202	4297	6499	35097631	SO:0001583	missense	93210			AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"post-GPI attachment to proteins 3"	611801	"per1-like domain containing 1"	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.163A>G	17.37:g.37844105T>C	ENSP00000300658:p.Ile55Val		35097631	B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	37	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123840	0.37436	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000429199	.	.	.	4.81	4.81	0.61882	.	0.336486	0.31809	N	0.007024	T	0.42381	0.1200	L	0.43152	1.355	0.35304	D	0.783323	B;B;B	0.27192	0.108;0.141;0.171	B;B;B	0.27796	0.076;0.046;0.083	T	0.51576	-0.8688	9	0.30854	T	0.27	-35.2917	9.2157	0.37346	0.0:0.0:0.305:0.6949	.	55;55;55	B4DGK7;Q96FM1-2;Q96FM1	.;.;PGAP3_HUMAN	V	55	.	ENSP00000300658:I55V	I	-	1	0	PGAP3	35097631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.642000	0.61383	2.037000	0.60232	0.459000	0.35465	ATC		0.642	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		C	37844105	T	C	37844105	3	2	303	1	0	0	0	0	1	0	0	0	11779	1493	52	4	831	4	PGAP3	17	37844105	Missense_Mutation	SNP	T	TCGA-25-1630-01A-01W-0615-10	30265638	37844105	43351105	39	16444											
BRCA1	672	hgsc.bcm.edu	37	17	41245991	41245991	+	Frame_Shift_Del	DEL	C	C	-	rs80357662		TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr17:41245991delC	ENST00000357654.3	-	10	1675	c.1557delG	c.(1555-1557)aagfs	p.K520fs	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.K224fs|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.K473fs|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.K520fs|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.K520fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.K520fs	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	520					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A521fs*11(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AATCTGCTTTCTTGATAAAAT	0.393			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Deletion - Frameshift(1)	ovary(1)	17											66	62	63					17																	41245991		2203	4300	6503	38499517	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1557delG	17.37:g.41245991delC	ENSP00000350283:p.Lys520fs		38499517	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	ENST00000357654.3	37	CCDS11453.1																																																																																				0.393	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		-	41245991	C	-	41245991	7	5	303	1	0	1	0	1	0	0	0	0	1498	912	32	0	4160	0	BRCA1	17	41245991	Frame_Shift_Del	DEL	C	TCGA-25-1630-01A-01W-0615-10	3401886	41245991	39949219	40	16445											
FOSB	2354	hgsc.bcm.edu	37	19	45973937	45973937	+	Silent	SNP	C	C	G			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chr19:45973937C>G	ENST00000353609.3	+	2	769	c.177C>G	c.(175-177)acC>acG	p.T59T	FOSB_ENST00000592436.1_Silent_p.T59T|FOSB_ENST00000590335.1_Silent_p.T59T|FOSB_ENST00000586615.1_Silent_p.T10T|FOSB_ENST00000592811.1_Silent_p.T10T|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000585836.1_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000417353.2_Silent_p.T59T|FOSB_ENST00000591858.1_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	59					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T59T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CCACGGTCACCGCGATCACAA	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19											121	132	128					19																	45973937		2203	4300	6503	50665777	SO:0001819	synonymous_variant	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.177C>G	19.37:g.45973937C>G			50665777	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Silent	SNP	ENST00000353609.3	37	CCDS12664.1																																																																																				0.632	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		G	45973937	C	G	45973937	2	3	303	1	0	0	0	0	0	0	0	1	5986	639	23	3		3	FOSB	19	45973937	Silent	SNP	C	TCGA-25-1630-01A-01W-0615-10		45973937	13155046	41	16446											
WDR13	64743	hgsc.bcm.edu	37	X	48457322	48457322	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chrX:48457322C>T	ENST00000218056.5	+	2	764	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.R87C	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	87						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R87C(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCGCAGTAGCCGCACTACTCT	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											43	30	34					X																	48457322		2203	4300	6503	48342266	SO:0001583	missense	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.259C>T	X.37:g.48457322C>T	ENSP00000218056:p.Arg87Cys		48342266	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184477	0.78677	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.73469	-0.75;-0.75	4.53	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	L	0.56769	1.78	0.80722	D	1	B	0.31054	0.306	B	0.18871	0.023	T	0.61720	-0.7005	10	0.36615	T	0.2	-8.7178	10.3396	0.43870	0.1976:0.8024:0.0:0.0	.	87	Q9H1Z4	WDR13_HUMAN	C	87	ENSP00000365919:R87C;ENSP00000218056:R87C	ENSP00000218056:R87C	R	+	1	0	WDR13	48342266	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.281000	0.65609	0.850000	0.35239	0.523000	0.50628	CGC		0.617	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			T	48457322	C	T	48457322	3	4	303	1	0	0	0	0	1	0	0	0	17275	652	23	1	265	1	WDR13	23	48457322	Missense_Mutation	SNP	C	TCGA-25-1630-01A-01W-0615-10		48457322	106813238	42	16447											
HUWE1	10075	hgsc.bcm.edu	37	X	53655545	53655545	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chrX:53655545G>T	ENST00000342160.3	-	14	1598	c.1141C>A	c.(1141-1143)Cag>Aag	p.Q381K	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q381K|HUWE1_ENST00000218328.8_Missense_Mutation_p.Q381K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	381					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.Q381K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGGCAAACTGGTGAGGGTAT	0.463																																																1	Substitution - Missense(1)	ovary(1)	X											53	45	48					X																	53655545		2164	4183	6347	53672270	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1141C>A	X.37:g.53655545G>T	ENSP00000340648:p.Gln381Lys		53672270	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	g	15.46	2.839554	0.51057	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323	T;T;T	0.65549	-0.07;-0.07;-0.16	5.72	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.499568	0.20871	N	0.084166	T	0.44705	0.1306	N	0.14661	0.345	0.52501	D	0.999959	P	0.46395	0.877	B	0.40134	0.32	T	0.38067	-0.9678	10	0.34782	T	0.22	.	12.8806	0.58014	0.0818:0.0:0.9182:0.0	.	381	Q7Z6Z7	HUWE1_HUMAN	K	381;381;381;7	ENSP00000340648:Q381K;ENSP00000262854:Q381K;ENSP00000218328:Q381K	ENSP00000218328:Q381K	Q	-	1	0	HUWE1	53672270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.518000	0.98022	1.182000	0.42928	0.597000	0.82753	CAG		0.463	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53655545	G	T	53655545	3	4	303	1	0	0	0	0	1	0	0	0	7461	1357	47	3	12263	3	HUWE1	23	53655545	Missense_Mutation	SNP	G	TCGA-25-1630-01A-01W-0615-10	5198223	53655545	101615015	43	16448											
ACSL4	2182	hgsc.bcm.edu	37	X	108924290	108924290	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1630-01A-01W-0615-10	TCGA-25-1630-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e1e35024-4f59-48ef-b182-ce2db6333e19	3cee65ce-31fe-40a3-85b7-fda7f7007524	g.chrX:108924290G>T	ENST00000469796.2	-	6	1111	c.715C>A	c.(715-717)Cct>Act	p.P239T	ACSL4_ENST00000348502.6_Missense_Mutation_p.P198T|ACSL4_ENST00000340800.2_Missense_Mutation_p.P239T			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	239					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.P239T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AATCCTTCAGGGTACTCTGCT	0.333																																					Pancreas(188;358 2127 38547 41466 45492)											1	Substitution - Missense(1)	ovary(1)	X											127	114	118					X																	108924290		2203	4300	6503	108810946	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.715C>A	X.37:g.108924290G>T	ENSP00000419171:p.Pro239Thr		108810946	D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889018	0.72524	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.10192	2.9;2.9;2.9	6.04	5.15	0.70609	AMP-dependent synthetase/ligase (1);	0.096948	0.64402	D	0.000001	T	0.27134	0.0665	L	0.48935	1.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00270	-1.1860	10	0.45353	T	0.12	-14.3553	16.3784	0.83418	0.0:0.1275:0.8725:0.0	.	239	O60488	ACSL4_HUMAN	T	198;239;239	ENSP00000262835:P198T;ENSP00000419171:P239T;ENSP00000339787:P239T	ENSP00000339787:P239T	P	-	1	0	ACSL4	108810946	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.476000	0.97823	2.555000	0.86185	0.513000	0.50165	CCT		0.333	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		T	108924290	G	T	108924290	3	4	303	1	0	0	0	0	1	0	0	0	179	1232	43	3	1464	3	ACSL4	23	108924290	Missense_Mutation	SNP	G	TCGA-25-1630-01A-01W-0615-10	55268745	108924290	46346270	44	16449											
ZFYVE9	9372	hgsc.bcm.edu	37	1	52798516	52798516	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr1:52798516A>T	ENST00000371591.1	+	13	3646	c.3515A>T	c.(3514-3516)cAt>cTt	p.H1172L	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.H1113L|ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.H1172L	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1172					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.H1172L(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCAGACTCTCATCTTGTGTGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											116	103	108					1																	52798516		2203	4300	6503	52571104	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3515A>T	1.37:g.52798516A>T	ENSP00000360647:p.His1172Leu		52571104	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611379	0.87258	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.45668	0.98;0.89;0.89	4.59	4.59	0.56863	Domain of unknown function DUF3480 (1);	0.000000	0.85682	D	0.000000	T	0.65739	0.2720	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.973;0.998	T	0.71510	-0.4571	10	0.72032	D	0.01	.	14.1308	0.65253	1.0:0.0:0.0:0.0	.	1113;1172	O95405-2;O95405	.;ZFYV9_HUMAN	L	1113;1172;1172	ENSP00000349737:H1113L;ENSP00000287727:H1172L;ENSP00000360647:H1172L	ENSP00000287727:H1172L	H	+	2	0	ZFYVE9	52571104	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	8.922000	0.92789	1.944000	0.56390	0.455000	0.32223	CAT		0.433	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		T	52798516	A	T	52798516	3	4	304	1	0	0	0	0	1	0	0	0	17671	217	8	5	3572	5	ZFYVE9	1	52798516	Missense_Mutation	SNP	A	TCGA-25-1631-01A-01W-0615-10		52798516	196452105	1	16450											
LPAR3	23566	hgsc.bcm.edu	37	1	85279814	85279814	+	Silent	SNP	C	C	T			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr1:85279814C>T	ENST00000440886.1	-	2	815	c.777G>A	c.(775-777)ctG>ctA	p.L259L	LPAR3_ENST00000370611.3_Silent_p.L259L|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	259					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.L259L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CGTCGAGGAGCAGAACCACCA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	1											61	58	59					1																	85279814		2203	4300	6503	85052402	SO:0001819	synonymous_variant	23566			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.777G>A	1.37:g.85279814C>T			85052402	A0AVA3	Silent	SNP	ENST00000440886.1	37	CCDS700.1																																																																																				0.577	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		T	85279814	C	T	85279814	2	4	304	1	0	0	0	0	0	0	0	1	8906	697	25	2		2	LPAR3	1	85279814	Silent	SNP	C	TCGA-25-1631-01A-01W-0615-10	32481298	85279814	163970807	2	16451											
OR2B11	127623	hgsc.bcm.edu	37	1	247615261	247615261	+	Frame_Shift_Del	DEL	G	G	-	rs35305980|rs397733455	byFrequency	TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr1:247615261delG	ENST00000318749.6	-	1	47	c.24delC	c.(22-24)ttcfs	p.F8fs		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L9fs*1(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGTCCCCTAAGAAGCTATGGT	0.478																																																1	Deletion - Frameshift(1)	ovary(1)	1											103	116	112					1																	247615261		2203	4300	6503	245681884	SO:0001589	frameshift_variant	127623				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.24delC	1.37:g.247615261delG	ENSP00000325682:p.Phe8fs		245681884	B2RP03	Frame_Shift_Del	DEL	ENST00000318749.6	37	CCDS31090.1																																																																																				0.478	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		-	247615261	G	-	247615261	7	5	304	1	0	1	0	1	0	0	0	0	10988	933	33	0	932	0	OR2B11	1	247615261	Frame_Shift_Del	DEL	G	TCGA-25-1631-01A-01W-0615-10	162335447	247615261	1635360	3	16452											
FASTKD1	79675	hgsc.bcm.edu	37	2	170394536	170394536	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr2:170394536T>G	ENST00000453153.2	-	11	2407	c.2061A>C	c.(2059-2061)caA>caC	p.Q687H	FASTKD1_ENST00000453929.2_Intron|FASTKD1_ENST00000495505.1_5'UTR	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	687					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.Q687H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TATTATATTGTTGACAGAAGC	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											122	135	131					2																	170394536		2203	4300	6503	170102782	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2061A>C	2.37:g.170394536T>G	ENSP00000400513:p.Gln687His		170102782	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460497	0.63401	.	.	ENSG00000138399	ENST00000453153	T	0.52983	0.64	5.02	-2.68	0.06041	FAST kinase-like protein, subdomain 2 (1);	0.434355	0.27056	N	0.021148	T	0.62307	0.2417	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.66268	-0.5966	10	0.59425	D	0.04	-14.6148	13.8544	0.63517	0.0:0.6547:0.0:0.3453	.	687	Q53R41	FAKD1_HUMAN	H	687	ENSP00000400513:Q687H	ENSP00000400513:Q687H	Q	-	3	2	FASTKD1	170102782	0.984000	0.35163	0.856000	0.33681	0.979000	0.70002	0.134000	0.15932	-0.378000	0.07918	0.460000	0.39030	CAA		0.333	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		G	170394536	T	G	170394536	3	3	304	1	0	0	0	0	1	0	0	0	5685	1722	60	5	502	5	FASTKD1	2	170394536	Missense_Mutation	SNP	T	TCGA-25-1631-01A-01W-0615-10		170394536	72804837	4	16453											
MRPS22	56945	hgsc.bcm.edu	37	3	139069895	139069895	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr3:139069895A>G	ENST00000495075.1	+	7	1157	c.725A>G	c.(724-726)tAt>tGt	p.Y242C	MRPS22_ENST00000478464.1_Missense_Mutation_p.Y201C|MRPS22_ENST00000310776.4_Missense_Mutation_p.Y242C|MRPS22_ENST00000465056.1_Missense_Mutation_p.Y241C|RP11-219D15.3_ENST00000608472.1_RNA			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	242						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.Y242C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TCCACAGAGTATATCAAGGTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	3											175	159	165					3																	139069895		2203	4300	6503	140552585	SO:0001583	missense	56945			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.725A>G	3.37:g.139069895A>G	ENSP00000418008:p.Tyr242Cys		140552585	Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067268	0.55539	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000478464	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.59	5.59	0.84812	.	0.111088	0.64402	N	0.000005	D	0.93766	0.8007	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.994;0.997	D	0.94613	0.7806	10	0.87932	D	0	-5.5059	15.7483	0.77965	1.0:0.0:0.0:0.0	.	201;241;242	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	C	242;242;241;201	ENSP00000418008:Y242C;ENSP00000310785:Y242C;ENSP00000418233:Y241C;ENSP00000419303:Y201C	ENSP00000310785:Y242C	Y	+	2	0	MRPS22	140552585	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	6.015000	0.70791	2.125000	0.65367	0.533000	0.62120	TAT		0.368	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		G	139069895	A	G	139069895	3	3	304	1	0	0	0	0	1	0	0	0	9833	449	16	4	743	4	MRPS22	3	139069895	Missense_Mutation	SNP	A	TCGA-25-1631-01A-01W-0615-10		139069895	58952535	5	16454											
NKAPL	222698	hgsc.bcm.edu	37	6	28228152	28228152	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr6:28228152G>A	ENST00000343684.3	+	1	1055	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	335								p.E335K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGGTTCTTTTGAATGCTCAGG	0.488																																																1	Substitution - Missense(1)	ovary(1)	6											183	178	180					6																	28228152		2203	4300	6503	28336131	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1003G>A	6.37:g.28228152G>A	ENSP00000345716:p.Glu335Lys		28336131	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822845	0.90873	.	.	ENSG00000189134	ENST00000343684	T	0.54675	0.56	4.74	4.74	0.60224	.	0.049529	0.85682	D	0.000000	T	0.70842	0.3270	M	0.89163	3.01	0.80722	D	1	P	0.52061	0.95	D	0.64042	0.921	T	0.76580	-0.2907	10	0.87932	D	0	-19.7265	15.6397	0.76989	0.0:0.0:1.0:0.0	.	335	Q5M9Q1	NKAPL_HUMAN	K	335	ENSP00000345716:E335K	ENSP00000345716:E335K	E	+	1	0	NKAPL	28336131	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.545000	0.98095	2.635000	0.89317	0.655000	0.94253	GAA		0.488	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			A	28228152	G	A	28228152	3	1	304	1	0	0	0	0	1	0	0	0	10440	1291	45	2	1005	2	NKAPL	6	28228152	Missense_Mutation	SNP	G	TCGA-25-1631-01A-01W-0615-10		28228152	142886915	6	16455											
MAS1L	116511	hgsc.bcm.edu	37	6	29455352	29455352	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr6:29455352C>A	ENST00000377127.3	-	1	386	c.328G>T	c.(328-330)Gta>Tta	p.V110L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	110					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V110L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGGATGTATACCATGTAGGGA	0.527																																					NSCLC(153;755 1987 3859 11251 32945)											1	Substitution - Missense(1)	ovary(1)	6											72	66	68					6																	29455352		2203	4300	6503	29563331	SO:0001583	missense	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.328G>T	6.37:g.29455352C>A	ENSP00000366331:p.Val110Leu		29563331	Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261657	0.39995	.	.	ENSG00000204687	ENST00000377127	T	0.71579	-0.58	2.6	0.657	0.17850	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.58495	0.2126	L	0.45285	1.41	0.09310	N	1	P	0.45474	0.859	P	0.57620	0.824	T	0.50110	-0.8866	9	0.66056	D	0.02	.	5.2885	0.15714	0.0:0.645:0.2167:0.1383	.	110	P35410	MAS1L_HUMAN	L	110	ENSP00000366331:V110L	ENSP00000366331:V110L	V	-	1	0	MAS1L	29563331	0.003000	0.15002	0.006000	0.13384	0.001000	0.01503	0.289000	0.18957	0.426000	0.26116	-0.261000	0.10672	GTA		0.527	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		A	29455352	C	A	29455352	3	1	304	1	0	0	0	0	1	0	0	0	9321	507	18	3	810	3	MAS1L	6	29455352	Missense_Mutation	SNP	C	TCGA-25-1631-01A-01W-0615-10	1227200	29455352	141659715	7	16456											
PKHD1	5314	hgsc.bcm.edu	37	6	51732836	51732836	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr6:51732836G>A	ENST00000371117.3	-	48	7833	c.7558C>T	c.(7558-7560)Cat>Tat	p.H2520Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.H2520Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2520					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.H2520Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATTGCTGCATGAGGAAATGGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											72	69	70					6																	51732836		2203	4299	6502	51840795	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7558C>T	6.37:g.51732836G>A	ENSP00000360158:p.His2520Tyr		51840795	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566386	0.65651	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90261	-2.46;-2.64	5.67	4.8	0.61643	.	0.068571	0.64402	N	0.000011	D	0.94105	0.8110	M	0.82630	2.6	0.34735	D	0.730151	D;D;D	0.89917	0.999;0.978;1.0	D;D;D	0.75484	0.986;0.933;0.963	D	0.95365	0.8459	10	0.87932	D	0	.	13.8751	0.63648	0.0732:0.0:0.9268:0.0	.	2520;2520;2520	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Y	2520	ENSP00000360158:H2520Y;ENSP00000341097:H2520Y	ENSP00000341097:H2520Y	H	-	1	0	PKHD1	51840795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.758000	0.62220	1.402000	0.46780	0.591000	0.81541	CAT		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51732836	G	A	51732836	3	1	304	1	0	0	0	0	1	0	0	0	11971	1290	45	2	4785	2	PKHD1	6	51732836	Missense_Mutation	SNP	G	TCGA-25-1631-01A-01W-0615-10	22277484	51732836	119382231	8	16457											
BMP5	653	hgsc.bcm.edu	37	6	55739403	55739403	+	Silent	SNP	G	G	T			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr6:55739403G>T	ENST00000370830.3	-	1	959	c.261C>A	c.(259-261)gcC>gcA	p.A87A	BMP5_ENST00000446683.2_Silent_p.A87A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	87					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.A87A(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATTGGTCATGGCATTGTAGA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	6											163	152	156					6																	55739403		2203	4300	6503	55847362	SO:0001819	synonymous_variant	653				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.261C>A	6.37:g.55739403G>T			55847362	B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	37	CCDS4958.1																																																																																				0.488	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			T	55739403	G	T	55739403	2	4	304	1	0	0	0	0	0	0	0	1	1463	1335	47	3		3	BMP5	6	55739403	Silent	SNP	G	TCGA-25-1631-01A-01W-0615-10	4006567	55739403	115375664	9	16458											
ACAT2	39	hgsc.bcm.edu	37	6	160183960	160183960	+	Missense_Mutation	SNP	A	A	G	rs199953042		TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr6:160183960A>G	ENST00000367048.4	+	2	1825	c.65A>G	c.(64-66)aAt>aGt	p.N22S	ACAT2_ENST00000541436.1_Missense_Mutation_p.N51S|SOD2_ENST00000546087.1_5'Flank|SOD2_ENST00000535372.1_5'Flank	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	22					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)	p.N22S(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGTTCCTTCAATGGTGCCTTA	0.552													a|||	1	0.000199681	0	0	5008	,	,		20527	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6						G	SER/ASN	0,4406		0,0,2203	174	160	164		65	1.3	1	6		164	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACAT2	NM_005891.2	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	22/398	160183960	1,13005	2203	4300	6503	160103950	SO:0001583	missense	39			AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	100678	"acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)", "acetyl-Coenzyme A acetyltransferase 2"			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.65A>G	6.37:g.160183960A>G	ENSP00000356015:p.Asn22Ser		160103950	B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	a	11.24	1.580528	0.28180	0.0	1.16E-4	ENSG00000120437	ENST00000367048;ENST00000541436	T;T	0.43294	0.95;0.95	5.12	1.33	0.21861	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.097704	0.64402	N	0.000002	T	0.19927	0.0479	L	0.60455	1.87	0.50813	D	0.999896	B;B	0.22541	0.071;0.023	B;B	0.15484	0.013;0.005	T	0.07751	-1.0756	10	0.54805	T	0.06	-4.6168	9.3492	0.38126	0.7923:0.0:0.2077:0.0	.	51;22	B7Z233;Q9BWD1	.;THIC_HUMAN	S	22;51	ENSP00000356015:N22S;ENSP00000437850:N51S	ENSP00000356015:N22S	N	+	2	0	ACAT2	160103950	1.000000	0.71417	0.991000	0.47740	0.119000	0.20118	5.719000	0.68462	0.058000	0.16222	-0.368000	0.07277	AAT		0.552	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		G	160183960	A	G	160183960	3	3	304	1	0	0	0	0	1	0	0	0	122	101	4	4	71	4	ACAT2	6	160183960	Missense_Mutation	SNP	A	TCGA-25-1631-01A-01W-0615-10	104444557	160183960	10931107	10	16459											
SLC30A8	169026	hgsc.bcm.edu	37	8	118170071	118170071	+	Missense_Mutation	SNP	C	C	T	rs141202988		TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr8:118170071C>T	ENST00000456015.2	+	4	560	c.560C>T	c.(559-561)gCg>gTg	p.A187V	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A138V|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A138V|SLC30A8_ENST00000427715.2_Missense_Mutation_p.A138V	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	187					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.A187V(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCGCAGTGGCGGCCAACATT	0.517																																					Ovarian(162;1202 1922 6011 16223 52092)											1	Substitution - Missense(1)	ovary(1)	8						C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	179	149	159		413,413,413,413,560	2.1	1	8	dbSNP_134	159	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense,missense,missense	SLC30A8	NM_001172811.1,NM_001172813.1,NM_001172814.1,NM_001172815.1,NM_173851.2	64,64,64,64,64	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign,benign,benign	138/321,138/321,138/321,138/321,187/370	118170071	3,13003	2203	4300	6503	118239252	SO:0001583	missense	169026				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.560C>T	8.37:g.118170071C>T	ENSP00000415011:p.Ala187Val		118239252	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	0.744	-0.775314	0.02951	0.0	3.49E-4	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.76	2.11	0.27256	.	0.832250	0.11028	N	0.607612	T	0.34135	0.0887	N	0.21240	0.645	0.25532	N	0.987267	B	0.06786	0.001	B	0.09377	0.004	T	0.29212	-1.0019	10	0.05620	T	0.96	0.941	4.8273	0.13423	0.0:0.2227:0.135:0.6423	.	187	Q8IWU4	ZNT8_HUMAN	V	138;138;138;187	ENSP00000428545:A138V;ENSP00000407505:A138V;ENSP00000431069:A138V;ENSP00000415011:A187V	ENSP00000407505:A138V	A	+	2	0	SLC30A8	118239252	0.389000	0.25205	0.993000	0.49108	0.213000	0.24496	1.004000	0.29822	0.101000	0.17610	0.650000	0.86243	GCG		0.517	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		T	118170071	C	T	118170071	3	4	304	1	0	0	0	0	1	0	0	0	14564	768	27	1	574	1	SLC30A8	8	118170071	Missense_Mutation	SNP	C	TCGA-25-1631-01A-01W-0615-10		118170071	28193951	11	16460											
OPTN	10133	hgsc.bcm.edu	37	10	13166082	13166082	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr10:13166082G>C	ENST00000378748.3	+	10	1332	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	OPTN_ENST00000378752.3_Missense_Mutation_p.E318Q|OPTN_ENST00000378764.2_Missense_Mutation_p.E318Q|OPTN_ENST00000263036.5_Missense_Mutation_p.E324Q|OPTN_ENST00000378747.3_Missense_Mutation_p.E324Q|OPTN_ENST00000378757.2_Missense_Mutation_p.E324Q	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	324					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)	p.E324Q(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGCAAAGCTGAGCTAATGAA	0.373																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)	10											48	48	48					10																	13166082		2203	4300	6503	13206088	SO:0001583	missense	10133			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.970G>C	10.37:g.13166082G>C	ENSP00000368022:p.Glu324Gln		13206088	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252437	0.59212	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	6.17	6.17	0.99709	.	0.089808	0.85682	D	0.000000	D	0.93145	0.7817	M	0.70275	2.135	0.47819	D	0.999521	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.972	D	0.91430	0.5165	10	0.35671	T	0.21	-18.4797	12.9056	0.58149	0.0745:0.0:0.9255:0.0	.	318;324	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	Q	324;318;324;318;324;324	ENSP00000263036:E324Q;ENSP00000368040:E318Q;ENSP00000368032:E324Q;ENSP00000368027:E318Q;ENSP00000368022:E324Q;ENSP00000368021:E324Q	ENSP00000263036:E324Q	E	+	1	0	OPTN	13206088	1.000000	0.71417	0.996000	0.52242	0.274000	0.26718	6.074000	0.71253	2.941000	0.99782	0.655000	0.94253	GAG		0.373	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		C	13166082	G	C	13166082	3	2	304	1	0	0	0	0	1	0	0	0	10889	1291	45	3	996	3	OPTN	10	13166082	Missense_Mutation	SNP	G	TCGA-25-1631-01A-01W-0615-10		13166082	122368665	12	16461											
CATSPER1	117144	hgsc.bcm.edu	37	11	65788337	65788337	+	Silent	SNP	G	G	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr11:65788337G>A	ENST00000312106.5	-	6	2009	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	624					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.F624F(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGAGCAAGGTGAAGAGGGTGA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	11											125	80	95					11																	65788337		2201	4296	6497	65544913	SO:0001819	synonymous_variant	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1872C>T	11.37:g.65788337G>A			65544913	Q96P76	Silent	SNP	ENST00000312106.5	37	CCDS8127.1																																																																																				0.627	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		A	65788337	G	A	65788337	2	1	304	1	0	0	0	0	0	0	0	1	2687	1281	45	2		2	CATSPER1	11	65788337	Silent	SNP	G	TCGA-25-1631-01A-01W-0615-10		65788337	69218179	13	16462											
BCL9L	283149	hgsc.bcm.edu	37	11	118771885	118771885	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr11:118771885T>A	ENST00000334801.3	-	6	3531	c.2567A>T	c.(2566-2568)tAc>tTc	p.Y856F	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	856					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.Y856F(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CATGGCTTGGTAGGGTCCCTG	0.602																																																1	Substitution - Missense(1)	ovary(1)	11											97	84	88					11																	118771885		2200	4295	6495	118277095	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2567A>T	11.37:g.118771885T>A	ENSP00000335320:p.Tyr856Phe		118277095	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476742	0.26511	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	D	0.83914	-1.78	5.11	3.99	0.46301	.	0.000000	0.39341	N	0.001394	T	0.65893	0.2735	N	0.19112	0.55	0.35046	D	0.760199	B;B	0.23650	0.089;0.053	B;B	0.21546	0.035;0.016	T	0.62642	-0.6811	10	0.06236	T	0.91	-9.5344	9.3857	0.38340	0.0:0.0857:0.0:0.9143	.	851;856	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	F	856;819;149;856;856	ENSP00000335320:Y856F	ENSP00000335320:Y856F	Y	-	2	0	BCL9L	118277095	0.994000	0.37717	1.000000	0.80357	0.882000	0.50991	1.274000	0.33132	1.911000	0.55334	0.533000	0.62120	TAC		0.602	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		A	118771885	T	A	118771885	3	1	304	1	0	0	0	0	1	0	0	0	1382	1638	57	5	1944	5	BCL9L	11	118771885	Missense_Mutation	SNP	T	TCGA-25-1631-01A-01W-0615-10	52983548	118771885	16234631	14	16463											
DDHD1	80821	hgsc.bcm.edu	37	14	53525224	53525225	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr14:53525224_53525225delGT	ENST00000323669.5	-	9	1961_1962	c.1962_1963delAC	c.(1960-1965)ttactafs	p.LL654fs	DDHD1_ENST00000357758.3_Frame_Shift_Del_p.LL654fs|DDHD1_ENST00000395606.1_Frame_Shift_Del_p.LL661fs	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	654	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L654fs*13(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AAAATATTTAGTAACCGGTTAC	0.406																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								52594975	SO:0001589	frameshift_variant	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1962_1963delAC	14.37:g.53525224_53525225delGT	ENSP00000327104:p.Leu654fs		52594974	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Frame_Shift_Del	DEL	ENST00000323669.5	37	CCDS53895.1																																																																																				0.406	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			-	53525225	GT	-	53525224	7	5	304	1	0	1	0	1	0	0	0	0	4326	1020	36	0	759	0	DDHD1	14	53525224	Frame_Shift_Del	DEL	GT	TCGA-25-1631-01A-01W-0615-10		53525224	53824316	15	16464											
GPR176	11245	hgsc.bcm.edu	37	15	40093373	40093373	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr15:40093373C>A	ENST00000561100.1	-	3	2373	c.1508G>T	c.(1507-1509)aGa>aTa	p.R503I	GPR176_ENST00000299092.3_Missense_Mutation_p.R502I|GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000543580.1_Missense_Mutation_p.R458I|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	503					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R503I(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TTTATTGTTTCTGCTCATCTT	0.512																																																1	Substitution - Missense(1)	ovary(1)	15											122	110	114					15																	40093373		2203	4300	6503	37880665	SO:0001583	missense	11245			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1508G>T	15.37:g.40093373C>A	ENSP00000453076:p.Arg503Ile		37880665	Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735133	0.89482	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	D	0.85411	-1.98	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90943	0.7153	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90538	0.4500	10	0.87932	D	0	-16.1377	20.8794	0.99867	0.0:1.0:0.0:0.0	.	503	Q14439	GP176_HUMAN	I	503;458	ENSP00000439361:R458I	ENSP00000299092:R503I	R	-	2	0	GPR176	37880665	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.802000	0.85969	2.941000	0.99782	0.655000	0.94253	AGA		0.512	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		A	40093373	C	A	40093373	3	1	304	1	0	0	0	0	1	0	0	0	6673	913	32	3	43	3	GPR176	15	40093373	Missense_Mutation	SNP	C	TCGA-25-1631-01A-01W-0615-10		40093373	62438019	16	16465											
HCN4	10021	hgsc.bcm.edu	37	15	73617477	73617477	+	Silent	SNP	C	C	T	rs371484779		TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr15:73617477C>T	ENST00000261917.3	-	6	2790	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	599					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A599A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGTTGGGGTCCGCATTGGCAA	0.567																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	15						C		0,4396		0,0,2198	138	122	128		1797	-5.8	0.9	15		128	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	HCN4	NM_005477.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		599/1204	73617477	1,12989	2198	4297	6495	71404530	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1797G>A	15.37:g.73617477C>T			71404530	Q9UMQ7	Silent	SNP	ENST00000261917.3	37	CCDS10248.1																																																																																				0.567	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		T	73617477	C	T	73617477	2	4	304	1	0	0	0	0	0	0	0	1	6999	639	23	1		1	HCN4	15	73617477	Silent	SNP	C	TCGA-25-1631-01A-01W-0615-10	33524104	73617477	28913915	17	16466											
CREBBP	1387	hgsc.bcm.edu	37	16	3790512	3790512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr16:3790512G>A	ENST00000262367.5	-	24	4830	c.4021C>T	c.(4021-4023)Cga>Tga	p.R1341*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.R1303*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1341	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1341*(3)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGTTCACTCGGTCTTCCAAG	0.567			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	3	Substitution - Nonsense(3)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	16											70	72	71					16																	3790512		2197	4300	6497	3730513	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4021C>T	16.37:g.3790512G>A	ENSP00000262367:p.Arg1341*		3730513	D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	18.35	3.604790	0.66445	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.05	1.64	0.23874	.	0.094335	0.44483	D	0.000453	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5698	11.1732	0.48584	0.0:0.1045:0.5694:0.3261	.	.	.	.	X	1341;1371;1303	.	ENSP00000262367:R1341X	R	-	1	2	CREBBP	3730513	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.982000	0.40638	0.582000	0.29556	0.555000	0.69702	CGA		0.567	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3790512	G	A	3790512	4	1	304	1	0	0	0	0	0	1	0	0	3861	1124	39	1	3339	1	CREBBP	16	3790512	Nonsense_Mutation	SNP	G	TCGA-25-1631-01A-01W-0615-10		3790512	86564241	18	16467											
SLC12A3	6559	hgsc.bcm.edu	37	16	56926038	56926038	+	Missense_Mutation	SNP	C	C	A	rs368730391		TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr16:56926038C>A	ENST00000563236.1	+	20	2437	c.2412C>A	c.(2410-2412)agC>agA	p.S804R	SLC12A3_ENST00000262502.5_Missense_Mutation_p.S803R|SLC12A3_ENST00000438926.2_Missense_Mutation_p.S804R|SLC12A3_ENST00000566786.1_Missense_Mutation_p.S803R			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	804					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.S804R(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGGAAGCCAGCGCCAGAGGTG	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											118	113	115					16																	56926038		2198	4300	6498	55483539	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2412C>A	16.37:g.56926038C>A	ENSP00000456149:p.Ser804Arg		55483539	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	9.660	1.143772	0.21205	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.0	-8.88	0.00789	.	1.003210	0.08023	N	0.992339	T	0.18299	0.0439	N	0.25245	0.725	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.002	T	0.16689	-1.0394	9	0.16896	T	0.51	.	2.9024	0.05709	0.2359:0.2058:0.0753:0.483	.	803;804;804	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	R	803;804	.	ENSP00000262502:S804R	S	+	3	2	SLC12A3	55483539	0.000000	0.05858	0.003000	0.11579	0.238000	0.25445	-1.107000	0.03316	-1.820000	0.01215	-0.812000	0.03155	AGC		0.612	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			A	56926038	C	A	56926038	3	1	304	1	0	0	0	0	1	0	0	0	14387	767	27	3	2490	3	SLC12A3	16	56926038	Missense_Mutation	SNP	C	TCGA-25-1631-01A-01W-0615-10	53135526	56926038	33428715	19	16468											
TP53	7157	hgsc.bcm.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr17:7579311C>A	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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"	38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	17	GRCh37	CS951538	TP53	S							66	61	63					17																	7579311		2203	4300	6503	7520036	SO:0001630	splice_region_variant	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.375+1G>T	17.37:g.7579311C>A			7520036	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954926	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7579311	C	A	7579311	5	1	304	1	0	0	0	0	0	0	1	0	16381	521	18	3	926	3	TP53	17	7579311	Splice_Site	SNP	C	TCGA-25-1631-01A-01W-0615-10		7579311	73615899	20	16469											
MYH2	4620	hgsc.bcm.edu	37	17	10435046	10435046	+	Silent	SNP	G	G	A	rs142129307	byFrequency	TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr17:10435046G>A	ENST00000245503.5	-	22	2985	c.2601C>T	c.(2599-2601)gaC>gaT	p.D867D	MYH2_ENST00000397183.2_Silent_p.D867D|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	867					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D867D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCAAGTTCGTCTTTAATTT	0.428													g|||	2	0.000399361	0	0	5008	,	,		22173	0.002		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	17						G	,	1,4405	2.1+/-5.4	0,1,2202	133	130	131		2601,2601	-9.4	0	17	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	867/1942,867/1942	10435046	2,13004	2203	4300	6503	10375771	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2601C>T	17.37:g.10435046G>A			10375771	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																				0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10435046	G	A	10435046	2	1	304	1	0	0	0	0	0	0	0	1	10035	1136	40	1		1	MYH2	17	10435046	Silent	SNP	G	TCGA-25-1631-01A-01W-0615-10	2855735	10435046	70760164	21	16470											
CCL7	6354	hgsc.bcm.edu	37	17	32598200	32598200	+	Missense_Mutation	SNP	T	T	A	rs143597570	byFrequency	TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr17:32598200T>A	ENST00000378569.2	+	2	182	c.112T>A	c.(112-114)Ttt>Att	p.F38I	CCL7_ENST00000394630.3_Intron|CCL7_ENST00000394627.1_Missense_Mutation_p.D55E|CCL7_ENST00000200307.4_Missense_Mutation_p.F48I	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	38					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)	p.F38I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGCTACAGATTTATCAATAA	0.443																																																1	Substitution - Missense(1)	ovary(1)	17											88	88	88					17																	32598200		2203	4300	6503	29622313	SO:0001583	missense	6354			AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"Chemokine ligands", "Endogenous ligands"	10634	protein-coding gene	gene with protein product	"monocyte chemoattractant protein 3", "monocyte chemotactic protein 3"	158106	"small inducible cytokine A7 (monocyte chemotactic protein 3)"	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:c.112T>A	17.37:g.32598200T>A	ENSP00000367832:p.Phe38Ile		29622313	Q569J6	Missense_Mutation	SNP	ENST00000378569.2	37	CCDS11278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.581|9.581	1.123569|1.123569	0.20959|0.20959	.|.	.|.	ENSG00000108688|ENSG00000108688	ENST00000394627|ENST00000378569;ENST00000200307	.|.	.|.	.|.	4.46|4.46	-0.708|-0.708	0.11241|0.11241	.|CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	.|0.132311	.|0.34906	.|N	.|0.003594	T|T	0.24044|0.24044	0.0582|0.0582	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.24258	.|0.1	.|B	.|0.25405	.|0.06	T|T	0.09751|0.09751	-1.0660|-1.0660	5|8	0.87932|0.46703	D|T	0|0.11	.|.	1.9327|1.9327	0.03331|0.03331	0.1509:0.1078:0.407:0.3343|0.1509:0.1078:0.407:0.3343	.|.	.|38	.|P80098	.|CCL7_HUMAN	E|I	65|48;38	.|.	ENSP00000378124:D65E|ENSP00000200307:F38I	D|F	+|+	3|1	2|0	CCL7|CCL7	29622313|29622313	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.763000|-0.763000	0.04740|0.04740	-0.229000|-0.229000	0.09854|0.09854	0.533000|0.533000	0.62120|0.62120	GAT|TTT		0.443	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256386.2	NM_006273		A	32598200	T	A	32598200	3	1	304	1	0	0	0	0	1	0	0	0	2906	1493	52	5	118	5	CCL7	17	32598200	Missense_Mutation	SNP	T	TCGA-25-1631-01A-01W-0615-10	22163154	32598200	48597010	22	16471											
OR10H2	26538	hgsc.bcm.edu	37	19	15839078	15839078	+	Silent	SNP	G	G	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr19:15839078G>A	ENST00000305899.3	+	1	245	c.225G>A	c.(223-225)gtG>gtA	p.V75V		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V75V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTACACCGTGGCCATCATCC	0.622																																																1	Substitution - coding silent(1)	ovary(1)	19											153	125	135					19																	15839078		2203	4300	6503	15700078	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.225G>A	19.37:g.15839078G>A			15700078	Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	CCDS12333.1																																																																																				0.622	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			A	15839078	G	A	15839078	2	1	304	1	0	0	0	0	0	0	0	1	10906	1335	47	2		2	OR10H2	19	15839078	Silent	SNP	G	TCGA-25-1631-01A-01W-0615-10		15839078	43289905	23	16472											
MCM3AP	8888	hgsc.bcm.edu	37	21	47655329	47655329	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr21:47655329C>T	ENST00000397708.1	-	29	6050	c.5796G>A	c.(5794-5796)atG>atA	p.M1932I	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.M1932I|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1932					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.M1932I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTTGCTCCCTCATCATGTCAC	0.458																																																1	Substitution - Missense(1)	ovary(1)	21											84	65	71					21																	47655329		2203	4300	6503	46479757	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5796G>A	21.37:g.47655329C>T	ENSP00000380820:p.Met1932Ile		46479757	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	9.394	1.076329	0.20227	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03242	4.0;4.0	4.94	-6.1	0.02138	.	1.746160	0.02579	N	0.098698	T	0.01592	0.0051	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46762	-0.9168	10	0.49607	T;T	0.09;0.09	0.0218	1.3031	0.02083	0.4438:0.2511:0.1117:0.1933	.	1932;427	O60318;B3KT88	MCM3A_HUMAN;.	I	1932;1932;427	ENSP00000380820:M1932I;ENSP00000291688:M1932I	ENSP00000291688:M1932I;ENSP00000291688:M1932I	M	-	3	0	MCM3AP	46479757	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.161000	0.16481	-0.337000	0.08426	-1.369000	0.01192	ATG		0.458	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		T	47655329	C	T	47655329	3	4	304	1	0	0	0	0	1	0	0	0	9388	826	29	2	150	2	MCM3AP	21	47655329	Missense_Mutation	SNP	C	TCGA-25-1631-01A-01W-0615-10		47655329	474566	24	16473											
AP1B1	162	hgsc.bcm.edu	37	22	29737638	29737638	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chr22:29737638C>T	ENST00000405198.1	-	12	1679	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	AP1B1_ENST00000415447.1_Missense_Mutation_p.E550K|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000357586.2_Missense_Mutation_p.E550K|AP1B1_ENST00000402502.1_Missense_Mutation_p.E550K|AP1B1_ENST00000317368.7_Missense_Mutation_p.E550K|AP1B1_ENST00000432560.2_Missense_Mutation_p.E550K|AP1B1_ENST00000356015.2_Missense_Mutation_p.E550K			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	550					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.E550K(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCGTCTCTTCAGAGATGAGT	0.597																																																1	Substitution - Missense(1)	ovary(1)	22											126	97	107					22																	29737638		2203	4300	6503	28067638	SO:0001583	missense	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1648G>A	22.37:g.29737638C>T	ENSP00000384194:p.Glu550Lys		28067638	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549052	0.86127	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	M	0.79011	2.435	0.80722	D	1	P;B;B;D;P	0.53745	0.946;0.066;0.272;0.962;0.847	P;B;B;B;B	0.48982	0.597;0.009;0.034;0.31;0.424	T	0.02868	-1.1100	10	0.52906	T	0.07	-19.9823	19.3511	0.94387	0.0:1.0:0.0:0.0	.	103;550;550;550;550	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	K	550	ENSP00000350199:E550K;ENSP00000348297:E550K;ENSP00000400065:E550K;ENSP00000384194:E550K;ENSP00000319361:E550K;ENSP00000386071:E550K;ENSP00000387612:E550K;ENSP00000400022:E550K	ENSP00000319361:E550K	E	-	1	0	AP1B1	28067638	1.000000	0.71417	0.712000	0.30502	0.957000	0.61999	7.818000	0.86416	2.665000	0.90641	0.655000	0.94253	GAA		0.597	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		T	29737638	C	T	29737638	3	4	304	1	0	0	0	0	1	0	0	0	731	835	29	2	1245	2	AP1B1	22	29737638	Missense_Mutation	SNP	C	TCGA-25-1631-01A-01W-0615-10		29737638	21566928	25	16474											
NHS	4810	hgsc.bcm.edu	37	X	17750349	17750349	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chrX:17750349C>T	ENST00000380060.3	+	8	4996	c.4658C>T	c.(4657-4659)tCc>tTc	p.S1553F	NHS_ENST00000398097.3_Missense_Mutation_p.S1397F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1574					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.S1553F(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGGCATTGTCCCCACTCTCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	X											104	88	94					X																	17750349		2203	4300	6503	17660270	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4658C>T	X.37:g.17750349C>T	ENSP00000369400:p.Ser1553Phe		17660270	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349327	0.61183	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.50548	0.74;0.74	5.69	5.69	0.88448	.	0.250624	0.42053	D	0.000771	T	0.66277	0.2773	M	0.62723	1.935	0.25264	N	0.989574	D;D;D;D	0.71674	0.958;0.958;0.958;0.998	P;P;P;D	0.63957	0.584;0.584;0.584;0.92	T	0.61865	-0.6975	10	0.72032	D	0.01	-14.2251	19.0571	0.93070	0.0:1.0:0.0:0.0	.	1574;1395;1397;1553	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	1553;1397;1395	ENSP00000369400:S1553F;ENSP00000381170:S1397F	ENSP00000369397:S1395F	S	+	2	0	NHS	17660270	0.997000	0.39634	1.000000	0.80357	0.947000	0.59692	4.230000	0.58632	2.536000	0.85505	0.600000	0.82982	TCC		0.587	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		T	17750349	C	T	17750349	3	4	304	1	0	0	0	0	1	0	0	0	10411	855	30	2	4793	2	NHS	23	17750349	Missense_Mutation	SNP	C	TCGA-25-1631-01A-01W-0615-10		17750349	137520211	26	16475											
CYLC1	1538	hgsc.bcm.edu	37	X	83128420	83128420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1631-01A-01W-0615-10	TCGA-25-1631-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6226bdc6-5ffd-4c29-95fc-f29331d38a58	9f7b1d63-723c-413e-b205-50d718f9b7ba	g.chrX:83128420C>A	ENST00000329312.4	+	4	741	c.704C>A	c.(703-705)tCa>tAa	p.S235*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	235					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S234*(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GATCCCATATCAGAGATTTGC	0.333																																																1	Substitution - Nonsense(1)	ovary(1)	X											34	31	32					X																	83128420		2192	4289	6481	83015076	SO:0001587	stop_gained	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.704C>A	X.37:g.83128420C>A	ENSP00000331556:p.Ser235*		83015076	A0AVQ8|Q5JQQ9	Nonsense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	15.00	2.704072	0.48412	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	4.13	0.2	0.15181	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5689	6.301	0.21113	0.0:0.4652:0.0:0.5348	.	.	.	.	X	235	.	ENSP00000331556:S235X	S	+	2	0	CYLC1	83015076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.091000	0.11146	-0.104000	0.12154	-0.305000	0.09177	TCA		0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		A	83128420	C	A	83128420	4	1	304	1	0	0	0	0	0	1	0	0	4141	838	29	3	718	3	CYLC1	23	83128420	Nonsense_Mutation	SNP	C	TCGA-25-1631-01A-01W-0615-10	65378071	83128420	72142140	27	16476											
GBP6	163351	hgsc.bcm.edu	37	1	89845978	89845978	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr1:89845978C>T	ENST00000370456.4	+	6	752	c.659C>T	c.(658-660)cCc>cTc	p.P220L	GBP6_ENST00000535065.1_Missense_Mutation_p.P90L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	220	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P220L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCCAATTTTCCCAGGGAGTGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											82	82	82					1																	89845978		2203	4300	6503	89618566	SO:0001583	missense	163351			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.659C>T	1.37:g.89845978C>T	ENSP00000359485:p.Pro220Leu		89618566	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	CCDS723.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.892042	0.33442	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.60424	0.19;0.19	4.54	1.63	0.23807	Guanylate-binding protein, N-terminal (1);	0.322691	0.27294	N	0.020032	T	0.40372	0.1114	M	0.85630	2.765	0.09310	N	1	B	0.30741	0.293	B	0.31686	0.134	T	0.44329	-0.9335	10	0.66056	D	0.02	-0.0168	7.8433	0.29410	0.0:0.7171:0.0:0.2829	.	220	Q6ZN66	GBP6_HUMAN	L	191;220;90	ENSP00000359485:P220L;ENSP00000442530:P90L	ENSP00000359485:P220L	P	+	2	0	GBP6	89618566	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.839000	0.39220	0.043000	0.15746	-0.229000	0.12294	CCC		0.403	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		T	89845978	C	T	89845978	3	4	305	1	0	0	0	0	1	0	0	0	6278	623	22	2	677	2	GBP6	1	89845978	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10		89845978	159404643	1	16477											
KIF21B	23046	hgsc.bcm.edu	37	1	200956256	200956256	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr1:200956256G>T	ENST00000422435.2	-	25	3798	c.3482C>A	c.(3481-3483)aCc>aAc	p.T1161N	KIF21B_ENST00000332129.2_Missense_Mutation_p.T1161N|KIF21B_ENST00000461742.2_Missense_Mutation_p.T1161N|KIF21B_ENST00000360529.5_Missense_Mutation_p.T1161N	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1161					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1161N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGTTCTTGGTGGAGATATC	0.577																																																1	Substitution - Missense(1)	ovary(1)	1											109	122	118					1																	200956256		2203	4300	6503	199222879	SO:0001583	missense	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3482C>A	1.37:g.200956256G>T	ENSP00000411831:p.Thr1161Asn		199222879	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370310	0.82573	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72725	-0.34;-0.66;-0.68;-0.37	5.17	5.17	0.71159	.	0.133214	0.52532	D	0.000079	T	0.72374	0.3452	L	0.40543	1.245	0.47374	D	0.999407	P;P;D;P	0.53151	0.651;0.651;0.958;0.763	B;B;P;B	0.51833	0.057;0.122;0.681;0.121	T	0.71334	-0.4624	10	0.35671	T	0.21	.	18.2598	0.90031	0.0:0.0:1.0:0.0	.	1161;1161;1161;1161	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	N	1161	ENSP00000328494:T1161N;ENSP00000353724:T1161N;ENSP00000433808:T1161N;ENSP00000411831:T1161N	ENSP00000328494:T1161N	T	-	2	0	KIF21B	199222879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.364000	0.97136	2.420000	0.82092	0.655000	0.94253	ACC		0.577	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		T	200956256	G	T	200956256	3	4	305	1	0	0	0	0	1	0	0	0	8289	1261	44	3	1432	3	KIF21B	1	200956256	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10	111110278	200956256	48294365	2	16478											
PRSS38	339501	hgsc.bcm.edu	37	1	228005071	228005071	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr1:228005071C>T	ENST00000366757.3	+	3	497	c.473C>T	c.(472-474)aCc>aTc	p.T158I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	158	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.T158I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAGCTGAAGACCCGCATTGTG	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											186	155	165					1																	228005071		2203	4300	6503	226071694	SO:0001583	missense	339501				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.473C>T	1.37:g.228005071C>T	ENSP00000355719:p.Thr158Ile		226071694	Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332301	0.24167	.	.	ENSG00000185888	ENST00000366757	T	0.61392	0.11	4.34	-8.69	0.00855	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.278050	0.02287	N	0.069915	T	0.54759	0.1878	L	0.43598	1.365	0.09310	N	1	P	0.48998	0.918	P	0.49140	0.601	T	0.65619	-0.6124	10	0.62326	D	0.03	.	10.7411	0.46154	0.1132:0.1372:0.6747:0.075	.	158	A1L453	PRS38_HUMAN	I	158	ENSP00000355719:T158I	ENSP00000355719:T158I	T	+	2	0	PRSS38	226071694	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.642000	0.00863	-2.042000	0.00914	-0.150000	0.13652	ACC		0.562	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		T	228005071	C	T	228005071	3	4	305	1	0	0	0	0	1	0	0	0	12630	507	18	2	483	2	PRSS38	1	228005071	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10	27048815	228005071	21245550	3	16479											
ASB3	100302652	hgsc.bcm.edu	37	2	53956675	53956675	+	Silent	SNP	G	G	A	rs34266611		TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr2:53956675G>A	ENST00000263634.3	-	4	522	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	GPR75-ASB3_ENST00000352846.3_Silent_p.L168L|GPR75-ASB3_ENST00000394717.2_Silent_p.L57L|GPR75-ASB3_ENST00000406687.1_Silent_p.L57L|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Silent_p.L165L	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.L130L(1)									TGAAGCAACAGCCTTAACACA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	2											153	138	143					2																	53956675		2203	4300	6503	53810179	SO:0001819	synonymous_variant	51130				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.388C>T	2.37:g.53956675G>A			53810179		Silent	SNP	ENST00000263634.3	37	CCDS1846.1	.	.	.	.	.	.	.	.	.	.	G	4.947	0.175996	0.09443	.	.	ENSG00000115239	ENST00000406053	.	.	.	5.68	4.78	0.61160	.	.	.	.	.	T	0.54822	0.1882	.	.	.	.	.	.	.	.	.	.	.	.	T	0.64927	-0.6292	3	.	.	.	.	10.7994	0.46480	0.0724:0.1335:0.7941:0.0	.	.	.	.	V	122	.	.	A	-	2	0	ASB3	53810179	1.000000	0.71417	0.994000	0.49952	0.772000	0.43724	1.628000	0.37060	1.367000	0.46095	0.563000	0.77884	GCT		0.393	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			A	53956675	G	A	53956675	2	1	305	1	0	0	0	0	0	0	0	1	1024	962	34	2		2	ASB3	2	53956675	Silent	SNP	G	TCGA-25-1632-01A-01W-0615-10		53956675	189242698	4	16480											
SPTBN1	6711	hgsc.bcm.edu	37	2	54874342	54874342	+	Silent	SNP	C	C	T	rs556277064	byFrequency	TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr2:54874342C>T	ENST00000356805.4	+	24	5222	c.4941C>T	c.(4939-4941)acC>acT	p.T1647T	SPTBN1_ENST00000333896.5_Silent_p.T1634T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1647	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.T1647T(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ATGCAGAGACCGTGCATCAGC	0.552													C|||	2	0.000399361	0	0	5008	,	,		18473	0		0.001	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	2											106	99	102					2																	54874342		2203	4300	6503	54727846	SO:0001819	synonymous_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4941C>T	2.37:g.54874342C>T			54727846	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																				0.552	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54874342	C	T	54874342	2	4	305	1	0	0	0	0	0	0	0	1	15121	639	23	1		1	SPTBN1	2	54874342	Silent	SNP	C	TCGA-25-1632-01A-01W-0615-10	917667	54874342	188325031	5	16481											
MGAT5	4249	hgsc.bcm.edu	37	2	135012017	135012017	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr2:135012017G>C	ENST00000409645.1	+	2	295	c.43G>C	c.(43-45)Ggc>Cgc	p.G15R	MGAT5_ENST00000281923.2_Missense_Mutation_p.G15R|MGAT5_ENST00000468758.1_3'UTR			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	15					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.G15R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCAGAAGCTGGGCTTTTTCCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											143	122	129					2																	135012017		2203	4300	6503	134728487	SO:0001583	missense	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.43G>C	2.37:g.135012017G>C	ENSP00000386377:p.Gly15Arg		134728487	D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073380	0.94000	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77843	-0.2437	9	0.87932	D	0	-22.0439	18.5677	0.91122	0.0:0.0:1.0:0.0	.	15	Q09328	MGT5A_HUMAN	R	15	.	ENSP00000281923:G15R	G	+	1	0	MGAT5	134728487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.677000	0.91161	0.650000	0.86243	GGC		0.502	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		C	135012017	G	C	135012017	3	2	305	1	0	0	0	0	1	0	0	0	9548	1232	43	3	45	3	MGAT5	2	135012017	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10	80137675	135012017	108187356	6	16482											
PDK1	5163	hgsc.bcm.edu	37	2	173460655	173460655	+	Silent	SNP	C	C	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr2:173460655C>T	ENST00000282077.3	+	11	1451	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	PDK1_ENST00000392571.2_Silent_p.P443P|PDK1_ENST00000410055.1_Silent_p.P423P|PDK1_ENST00000544863.1_Silent_p.P268P|PDK1_ENST00000543905.1_Silent_p.P347P			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	423					cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.P423P(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			GGTGCGTCCCCAGCAGAGAAC	0.473									Autosomal Dominant Polycystic Kidney Disease																																							1	Substitution - coding silent(1)	ovary(1)	2											81	65	70					2																	173460655		2203	4300	6503	173168901	SO:0001819	synonymous_variant	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"pyruvate dehydrogenase kinase, isoenzyme 1"			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1269C>T	2.37:g.173460655C>T			173168901	B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Silent	SNP	ENST00000282077.3	37	CCDS2250.1																																																																																				0.473	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		T	173460655	C	T	173460655	2	4	305	1	0	0	0	0	0	0	0	1	11675	581	21	2		2	PDK1	2	173460655	Silent	SNP	C	TCGA-25-1632-01A-01W-0615-10	38448638	173460655	69738718	7	16483											
QARS	5859	hgsc.bcm.edu	37	3	49137481	49137481	+	Missense_Mutation	SNP	C	C	T	rs370681625		TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr3:49137481C>T	ENST00000306125.6	-	14	1545	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.R392Q			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	403			R -> W (in MSCCA; results in loss of glutaminyl-tRNA aminoacylation activity; does not interact with RARS; results in reduced protein solubility). {ECO:0000269|PubMed:24656866}.		brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)	p.R403Q(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CAGCTTCATCCGTAGTGTGGC	0.537																																																1	Substitution - Missense(1)	ovary(1)	3						C	GLN/ARG	0,4406		0,0,2203	166	153	157		1208	5.1	0.4	3		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	QARS	NM_005051.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	403/776	49137481	1,13005	2203	4300	6503	49112485	SO:0001583	missense	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1208G>A	3.37:g.49137481C>T	ENSP00000307567:p.Arg403Gln		49112485	B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927421	0.73327	0.0	1.16E-4	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.61627	0.09;0.09	5.98	5.11	0.69529	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86936	0.6053	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92675	0.6153	10	0.87932	D	0	-20.8602	14.909	0.70740	0.0:0.9307:0.0:0.0693	.	392;403	B4DWJ2;P47897	.;SYQ_HUMAN	Q	403;392	ENSP00000307567:R403Q;ENSP00000390015:R392Q	ENSP00000307567:R403Q	R	-	2	0	QARS	49112485	1.000000	0.71417	0.424000	0.26647	0.433000	0.31745	7.316000	0.79007	1.538000	0.49270	-0.140000	0.14226	CGG		0.537	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		T	49137481	C	T	49137481	3	4	305	1	0	0	0	0	1	0	0	0	12874	652	23	1	1163	1	QARS	3	49137481	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10		49137481	148884949	8	16484											
ENAM	10117	hgsc.bcm.edu	37	4	71509258	71509258	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr4:71509258T>A	ENST00000396073.3	+	9	2396	c.2115T>A	c.(2113-2115)gaT>gaA	p.D705E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	705					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.D705E(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTCTTTAGATAATCCATCAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	4											72	73	73					4																	71509258		2203	4300	6503	71728122	SO:0001583	missense	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2115T>A	4.37:g.71509258T>A	ENSP00000379383:p.Asp705Glu		71728122	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	T	10.77	1.444856	0.25987	.	.	ENSG00000132464	ENST00000396073	T	0.37411	1.2	6.01	2.15	0.27550	.	0.202809	0.35151	N	0.003411	T	0.46268	0.1384	M	0.78456	2.415	0.09310	N	1	P	0.50272	0.933	P	0.53518	0.728	T	0.35276	-0.9795	10	0.40728	T	0.16	-16.2464	5.9703	0.19349	0.1246:0.1478:0.0:0.7276	.	705	Q9NRM1	ENAM_HUMAN	E	705	ENSP00000379383:D705E	ENSP00000379383:D705E	D	+	3	2	ENAM	71728122	0.992000	0.36948	0.818000	0.32626	0.166000	0.22503	0.141000	0.16076	-0.081000	0.12662	-1.139000	0.01908	GAT		0.393	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		A	71509258	T	A	71509258	3	1	305	1	0	0	0	0	1	0	0	0	5112	1403	49	5	2145	5	ENAM	4	71509258	Missense_Mutation	SNP	T	TCGA-25-1632-01A-01W-0615-10		71509258	119645018	9	16485											
CXCL13	10563	hgsc.bcm.edu	37	4	78528991	78528991	+	Splice_Site	SNP	T	T	G			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr4:78528991T>G	ENST00000286758.4	+	3	275		c.e3+2			NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13						activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)	p.?(1)		large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AGAAATCATGTAAGTTTCAAG	0.368																																																1	Unknown(1)	ovary(1)	4											69	66	67					4																	78528991		2203	4300	6503	78748015	SO:0001630	splice_region_variant	10563			AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"Endogenous ligands"	10639	protein-coding gene	gene with protein product	"B-cell chemoattractant"	605149	"small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.197+2T>G	4.37:g.78528991T>G			78748015		Splice_Site	SNP	ENST00000286758.4	37	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290509	0.40494	.	.	ENSG00000156234	ENST00000286758	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8187	0.46591	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CXCL13	78748015	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	3.315000	0.51951	2.114000	0.64651	0.460000	0.39030	.		0.368	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1		Intron	G	78528991	T	G	78528991	5	3	305	1	0	0	0	0	0	0	1	0	4081	1652	57	5	205	5	CXCL13	4	78528991	Splice_Site	SNP	T	TCGA-25-1632-01A-01W-0615-10	7019733	78528991	112625285	10	16486											
HERC5	51191	hgsc.bcm.edu	37	4	89397041	89397041	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr4:89397041C>T	ENST00000264350.3	+	12	1595	c.1442C>T	c.(1441-1443)tCt>tTt	p.S481F	HERC5_ENST00000508159.1_Missense_Mutation_p.S119F	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	481					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S481F(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CCATTTCATTCTCCACCCCAA	0.423																																					Esophageal Squamous(39;887 1012 34045 50514)											1	Substitution - Missense(1)	ovary(1)	4											122	122	122					4																	89397041		2203	4300	6503	89616064	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1442C>T	4.37:g.89397041C>T	ENSP00000264350:p.Ser481Phe		89616064	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338426	0.41398	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.38240	1.15;1.2	4.79	3.95	0.45737	.	0.356029	0.23116	N	0.051755	T	0.43545	0.1252	M	0.71036	2.16	0.26675	N	0.971646	P	0.40144	0.704	P	0.45913	0.497	T	0.38757	-0.9646	10	0.54805	T	0.06	.	9.0727	0.36502	0.0:0.8997:0.0:0.1003	.	481	Q9UII4	HERC5_HUMAN	F	481;119	ENSP00000264350:S481F;ENSP00000424129:S119F	ENSP00000264350:S481F	S	+	2	0	HERC5	89616064	1.000000	0.71417	0.989000	0.46669	0.516000	0.34256	3.304000	0.51866	1.385000	0.46445	0.591000	0.81541	TCT		0.423	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		T	89397041	C	T	89397041	3	4	305	1	0	0	0	0	1	0	0	0	7061	913	32	2	1488	2	HERC5	4	89397041	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10	10868050	89397041	101757235	11	16487											
MTTP	4547	hgsc.bcm.edu	37	4	100516041	100516041	+	Splice_Site	SNP	G	G	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr4:100516041G>T	ENST00000265517.5	+	7	1112		c.e7+1		MTTP_ENST00000511045.1_Splice_Site|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Splice_Site			P55157	MTP_HUMAN	microsomal triglyceride transfer protein						cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ATGTCCTTCTGTAAGTGCAGA	0.423																																																1	Unknown(1)	ovary(1)	4											86	80	82					4																	100516041		2203	4300	6503	100735064	SO:0001630	splice_region_variant	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.909+1G>T	4.37:g.100516041G>T			100735064	A8K428|Q08AM4|Q6P5T3	Splice_Site	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322699	0.41096	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5631	0.91108	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTTP	100735064	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	8.269000	0.89878	2.442000	0.82660	0.563000	0.77884	.		0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		Intron	T	100516041	G	T	100516041	5	4	305	1	0	0	0	0	0	0	1	0	9964	1391	48	3	936	3	MTTP	4	100516041	Splice_Site	SNP	G	TCGA-25-1632-01A-01W-0615-10	11119000	100516041	90638235	12	16488											
IRF2	3660	hgsc.bcm.edu	37	4	185339692	185339692	+	Nonsense_Mutation	SNP	T	T	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr4:185339692T>A	ENST00000393593.3	-	4	565	c.358A>T	c.(358-360)Aag>Tag	p.K120*	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	120					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K120*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TTACCTTTCTTAGAAGGCCGT	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	4											133	130	131					4																	185339692		2203	4300	6503	185576686	SO:0001587	stop_gained	3660				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.358A>T	4.37:g.185339692T>A	ENSP00000377218:p.Lys120*		185576686	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Nonsense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	5.992207|5.992207	0.97179|0.97179	.|.	.|.	ENSG00000168310|ENSG00000168310	ENST00000393593;ENST00000502750;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316|ENST00000505067	.|.	.|.	.|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.211209|.	0.48286|.	D|.	0.000191|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-22.2723|-22.2723	15.0337|15.0337	0.71728|0.71728	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	120;32;120;120;120;120|18	.|.	ENSP00000377218:K120X|.	K|X	-|-	1|2	0|2	IRF2|IRF2	185576686|185576686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.816000|0.816000	0.46133|0.46133	7.381000|7.381000	0.79718|0.79718	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	AAG|TAA		0.403	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			A	185339692	T	A	185339692	4	1	305	1	0	0	0	0	0	1	0	0	7828	1763	61	5	715	5	IRF2	4	185339692	Nonsense_Mutation	SNP	T	TCGA-25-1632-01A-01W-0615-10	84823651	185339692	5814584	13	16489											
FAT2	2196	hgsc.bcm.edu	37	5	150901462	150901462	+	Silent	SNP	C	C	G			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr5:150901462C>G	ENST00000261800.5	-	18	10704	c.10692G>C	c.(10690-10692)ctG>ctC	p.L3564L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3564	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3564L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTATAGGTCAGCGTGTCCT	0.602																																																1	Substitution - coding silent(1)	ovary(1)	5											94	84	88					5																	150901462		2203	4300	6503	150881655	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10692G>C	5.37:g.150901462C>G			150881655	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	4.252	0.045719	0.08196	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.38	1.48	0.22813	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45056	-0.9287	4	.	.	.	.	8.3389	0.32232	0.0:0.6279:0.2396:0.1325	.	.	.	.	H	423	.	.	D	-	1	0	FAT2	150881655	0.612000	0.27000	0.934000	0.37439	0.664000	0.39144	-0.041000	0.12084	0.047000	0.15862	-0.300000	0.09419	GAC		0.602	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150901462	C	G	150901462	2	3	305	1	0	0	0	0	0	0	0	1	5690	813	29	3		3	FAT2	5	150901462	Silent	SNP	C	TCGA-25-1632-01A-01W-0615-10		150901462	30013798	14	16490											
ABT1	29777	hgsc.bcm.edu	37	6	26598254	26598254	+	Silent	SNP	C	C	G			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr6:26598254C>G	ENST00000274849.1	+	2	385	c.354C>G	c.(352-354)gcC>gcG	p.A118A		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	118	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.A118A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						AGCGCATAGCCAAGCGCGTGG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	6											62	56	58					6																	26598254		2203	4300	6503	26706233	SO:0001819	synonymous_variant	29777			AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.354C>G	6.37:g.26598254C>G			26706233		Silent	SNP	ENST00000274849.1	37	CCDS4616.1																																																																																				0.577	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			G	26598254	C	G	26598254	2	3	305	1	0	0	0	0	0	0	0	1	101	581	21	3		3	ABT1	6	26598254	Silent	SNP	C	TCGA-25-1632-01A-01W-0615-10		26598254	144516813	15	16491											
MDN1	23195	hgsc.bcm.edu	37	6	90358040	90358040	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr6:90358040A>C	ENST00000369393.3	-	98	16330	c.16215T>G	c.(16213-16215)ttT>ttG	p.F5405L	MDN1_ENST00000428876.1_Missense_Mutation_p.F5405L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5405	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.F5405L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAAAGATTCAAATGCAAGCT	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											86	85	85					6																	90358040		2203	4300	6503	90414761	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16215T>G	6.37:g.90358040A>C	ENSP00000358400:p.Phe5405Leu		90414761	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717898	0.48622	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.20069	2.1;2.1	6.06	3.73	0.42828	von Willebrand factor, type A (2);	0.196470	0.45126	D	0.000383	T	0.02807	0.0084	N	0.17312	0.475	0.40165	D	0.977112	P	0.39282	0.666	B	0.31869	0.137	T	0.14896	-1.0456	10	0.02654	T	1	.	9.8345	0.40960	0.8637:0.0:0.1363:0.0	.	5405	Q9NU22	MDN1_HUMAN	L	5405	ENSP00000358400:F5405L;ENSP00000413970:F5405L	ENSP00000358400:F5405L	F	-	3	2	MDN1	90414761	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.168000	0.50801	1.119000	0.41883	0.533000	0.62120	TTT		0.368	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90358040	A	C	90358040	3	2	305	1	0	0	0	0	1	0	0	0	9415	127	5	5	595	5	MDN1	6	90358040	Missense_Mutation	SNP	A	TCGA-25-1632-01A-01W-0615-10	63759786	90358040	80757027	16	16492											
FUCA2	2519	hgsc.bcm.edu	37	6	143825326	143825326	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr6:143825326C>T	ENST00000002165.6	-	3	531	c.476G>A	c.(475-477)aGg>aAg	p.R159K	FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000593175.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	159					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.R159K(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GACAATGTCCCTCTTGGGCCC	0.443																																																1	Substitution - Missense(1)	ovary(1)	6											110	113	112					6																	143825326		2203	4300	6503	143867019	SO:0001583	missense	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.476G>A	6.37:g.143825326C>T	ENSP00000002165:p.Arg159Lys		143867019	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298977	0.95574	.	.	ENSG00000001036	ENST00000002165	T	0.57752	0.38	5.61	4.74	0.60224	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.80028	2.48	0.80722	D	1	P	0.49447	0.924	P	0.56088	0.791	T	0.64782	-0.6326	10	0.45353	T	0.12	-19.406	14.7773	0.69740	0.0:0.9303:0.0:0.0697	.	159	Q9BTY2	FUCO2_HUMAN	K	159	ENSP00000002165:R159K	ENSP00000002165:R159K	R	-	2	0	FUCA2	143867019	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	5.775000	0.68915	1.359000	0.45940	0.650000	0.86243	AGG		0.443	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		T	143825326	C	T	143825326	3	4	305	1	0	0	0	0	1	0	0	0	6095	681	24	2	947	2	FUCA2	6	143825326	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10	53467286	143825326	27289741	17	16493											
TMEM130	222865	hgsc.bcm.edu	37	7	98452934	98452934	+	Silent	SNP	G	G	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr7:98452934G>T	ENST00000416379.2	-	5	736	c.732C>A	c.(730-732)ggC>ggA	p.G244G	TMEM130_ENST00000450876.1_Silent_p.G160G|TMEM130_ENST00000339375.4_Silent_p.G244G|TMEM130_ENST00000345589.4_Silent_p.G142G|TMEM130_ENST00000546258.1_Silent_p.G225G			Q8N3G9	TM130_HUMAN	transmembrane protein 130	244						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G244G(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACACTTGGATGCCTCGAAGGG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	7											112	103	106					7																	98452934		2203	4300	6503	98290870	SO:0001819	synonymous_variant	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.732C>A	7.37:g.98452934G>T			98290870	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	CCDS47650.1																																																																																				0.582	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		T	98452934	G	T	98452934	2	4	305	1	0	0	0	0	0	0	0	1	16043	1306	46	3		3	TMEM130	7	98452934	Silent	SNP	G	TCGA-25-1632-01A-01W-0615-10		98452934	60685729	18	16494											
TRYX3	136541	hgsc.bcm.edu	37	7	141954986	141954986	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr7:141954986T>A	ENST00000552471.1	-	3	644	c.325A>T	c.(325-327)Aca>Tca	p.T109S	PRSS58_ENST00000547058.2_Missense_Mutation_p.T109S			Q8IYP2	PRS58_HUMAN	protease, serine, 58	109	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.T109S(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TCAGCCTCTGTTTTCAGCTTG	0.408																																																1	Substitution - Missense(1)	ovary(1)	7											238	216	223					7																	141954986		2203	4300	6503	141601463	SO:0001583	missense	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.325A>T	7.37:g.141954986T>A	ENSP00000446916:p.Thr109Ser		141601463	B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	T	0.188	-1.056035	0.01965	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.87729	-2.29;-2.29	5.04	1.2	0.21068	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.67961	0.2949	N	0.12527	0.23	0.09310	N	1	B	0.20550	0.046	B	0.23716	0.048	T	0.55742	-0.8093	9	0.02654	T	1	.	2.7531	0.05286	0.3211:0.1886:0.0:0.4902	.	109	Q8IYP2	PRS58_HUMAN	S	109	ENSP00000447588:T109S;ENSP00000446916:T109S	ENSP00000307206:T109S	T	-	1	0	PRSS58	141601463	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.147000	0.16202	0.111000	0.17947	0.533000	0.62120	ACA		0.408	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		A	141954986	T	A	141954986	3	1	305	1	0	0	0	0	1	0	0	0	16604	1725	60	5	412	5	TRYX3	7	141954986	Missense_Mutation	SNP	T	TCGA-25-1632-01A-01W-0615-10	43502052	141954986	17183677	19	16495											
SLC18A1	6570	hgsc.bcm.edu	37	8	20031929	20031929	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr8:20031929G>C	ENST00000276373.5	-	5	840	c.574C>G	c.(574-576)Cta>Gta	p.L192V	SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L192V|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L192V|SLC18A1_ENST00000437980.1_Missense_Mutation_p.L192V|SLC18A1_ENST00000440926.1_Missense_Mutation_p.L192V|SLC18A1_ENST00000265808.7_Missense_Mutation_p.L192V	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	192					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.L192V(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ACAAAGAGTAGAGTATAGGTC	0.483																																																1	Substitution - Missense(1)	ovary(1)	8											150	132	138					8																	20031929		2203	4300	6503	20076209	SO:0001583	missense	6570				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.574C>G	8.37:g.20031929G>C	ENSP00000276373:p.Leu192Val		20076209	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	G	1.158	-0.644685	0.03531	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2	5.38	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.064388	0.64402	D	0.000006	T	0.54351	0.1853	N	0.26042	0.785	0.44432	D	0.997358	B;D;D	0.89917	0.047;1.0;1.0	B;D;D	0.91635	0.07;0.998;0.999	T	0.57142	-0.7862	10	0.02654	T	1	-11.0889	7.9134	0.29803	0.27:0.0:0.73:0.0	.	192;192;192	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	V	192	ENSP00000265808:L192V;ENSP00000276373:L192V;ENSP00000387549:L192V;ENSP00000413361:L192V;ENSP00000429664:L192V;ENSP00000371021:L192V	ENSP00000265808:L192V	L	-	1	2	SLC18A1	20076209	0.313000	0.24554	0.139000	0.22197	0.007000	0.05969	0.566000	0.23593	0.689000	0.31550	-0.150000	0.13652	CTA		0.483	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			C	20031929	G	C	20031929	3	2	305	1	0	0	0	0	1	0	0	0	14428	933	33	3	1051	3	SLC18A1	8	20031929	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10		20031929	126332093	20	16496											
ASAP1	50807	hgsc.bcm.edu	37	8	131165027	131165027	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr8:131165027C>A	ENST00000518721.1	-	13	1262	c.1035G>T	c.(1033-1035)agG>agT	p.R345S	ASAP1_ENST00000357668.1_Missense_Mutation_p.R345S	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	345	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.R345S(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTGAACACTTCCTCCTCTGCC	0.428																																																1	Substitution - Missense(1)	ovary(1)	8											205	173	184					8																	131165027		2203	4300	6503	131234209	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1035G>T	8.37:g.131165027C>A	ENSP00000429900:p.Arg345Ser		131234209	B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.466941|4.466941	0.84425|0.84425	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|T;T;T	.|0.80653	.|-1.4;-1.4;3.36	5.18|5.18	4.06|4.06	0.47325|0.47325	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.91858	.|0.7423	H|H	0.96691|0.96691	3.865|3.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.993	.|D;D;D	.|0.87578	.|0.998;0.998;0.991	.|D	.|0.92532	.|0.6034	.|10	.|0.87932	.|D	.|0	.|.	9.0912|9.0912	0.36612|0.36612	0.0:0.8618:0.0:0.1382|0.0:0.8618:0.0:0.1382	.|.	.|345;345;348	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	X|S	166|348;345;345;315	.|ENSP00000350297:R345S;ENSP00000429900:R345S;ENSP00000430588:R315S	.|ENSP00000344591:R348S	E|R	-|-	1|3	0|2	ASAP1|ASAP1	131234209|131234209	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.519000|0.519000	0.22862|0.22862	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.428	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		A	131165027	C	A	131165027	3	1	305	1	0	0	0	0	1	0	0	0	1010	854	30	3	2426	3	ASAP1	8	131165027	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10	111133098	131165027	15198995	21	16497											
AGTPBP1	23287	hgsc.bcm.edu	37	9	88257774	88257774	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr9:88257774G>T	ENST00000357081.3	-	13	1414	c.1270C>A	c.(1270-1272)Cac>Aac	p.H424N	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.H262N|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.H384N|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.H436N			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	424					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.H384N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGGAAAAGGTGTTCATACATT	0.303																																																1	Substitution - Missense(1)	ovary(1)	9											141	151	147					9																	88257774		2203	4298	6501	87447594	SO:0001583	missense	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.1270C>A	9.37:g.88257774G>T	ENSP00000349592:p.His424Asn		87447594	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	G	12.24	1.878896	0.33162	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.62	5.62	0.85841	.	0.376195	0.30374	N	0.009780	T	0.40322	0.1112	L	0.40543	1.245	0.80722	D	1	B;P;P;B	0.35174	0.306;0.488;0.481;0.351	B;B;B;B	0.38500	0.1;0.07;0.275;0.146	T	0.10086	-1.0645	10	0.17369	T	0.5	-15.6193	19.6544	0.95831	0.0:0.0:1.0:0.0	.	436;424;262;384	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	N	424;384;436;262	ENSP00000349592:H424N;ENSP00000365251:H384N;ENSP00000365277:H436N;ENSP00000402804:H262N	ENSP00000349592:H424N	H	-	1	0	AGTPBP1	87447594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.186000	0.65082	2.647000	0.89833	0.467000	0.42956	CAC		0.303	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		T	88257774	G	T	88257774	3	4	305	1	0	0	0	0	1	0	0	0	400	1377	48	3	2466	3	AGTPBP1	9	88257774	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10		88257774	52955657	22	16498											
SECISBP2	79048	hgsc.bcm.edu	37	9	91947874	91947874	+	Missense_Mutation	SNP	G	G	A	rs367986134		TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr9:91947874G>A	ENST00000375807.3	+	6	924	c.853G>A	c.(853-855)Gct>Act	p.A285T	SECISBP2_ENST00000339901.4_Missense_Mutation_p.A212T|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A217T	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	285					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.A285T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TGCTAATGCCGCTACCAATTC	0.318																																																1	Substitution - Missense(1)	ovary(1)	9						G	THR/ALA	0,4406		0,0,2203	91	86	88		853	0.1	0	9		88	3,8597	3.0+/-9.4	0,3,4297	no	missense	SECISBP2	NM_024077.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	285/855	91947874	3,13003	2203	4300	6503	91137694	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.853G>A	9.37:g.91947874G>A	ENSP00000364965:p.Ala285Thr		91137694	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	7.342	0.621061	0.14193	0.0	3.49E-4	ENSG00000187742	ENST00000375807;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.73469	-0.73;-0.75;-0.74;0.85	4.19	0.06	0.14334	.	.	.	.	.	T	0.45034	0.1322	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.27971	0.123;0.196;0.123;0.196	B;B;B;B	0.14578	0.005;0.011;0.005;0.011	T	0.22977	-1.0201	9	0.11485	T	0.65	-0.3552	2.3191	0.04206	0.099:0.1744:0.4081:0.3185	.	284;212;285;217	B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;SEBP2_HUMAN;.	T	285;212;217;120	ENSP00000364965:A285T;ENSP00000364959:A212T;ENSP00000436650:A217T;ENSP00000414288:A120T	ENSP00000364959:A212T	A	+	1	0	SECISBP2	91137694	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	0.108000	0.15396	0.013000	0.14918	0.650000	0.86243	GCT		0.318	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		A	91947874	G	A	91947874	3	1	305	1	0	0	0	0	1	0	0	0	14009	1087	38	1	875	1	SECISBP2	9	91947874	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10	3690100	91947874	49265557	23	16499											
GRIN3A	116443	hgsc.bcm.edu	37	9	104449422	104449422	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr9:104449422C>T	ENST00000361820.3	-	2	1360	c.760G>A	c.(760-762)Gtc>Atc	p.V254I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	254					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.V254I(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGGATTGAGACAGTGACATCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	9											96	92	94					9																	104449422		2203	4300	6503	103489243	SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.760G>A	9.37:g.104449422C>T	ENSP00000355155:p.Val254Ile		103489243	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264608	0.40095	.	.	ENSG00000198785	ENST00000361820	D	0.87729	-2.29	5.69	4.79	0.61399	.	0.471093	0.22185	N	0.063452	T	0.81297	0.4793	L	0.43152	1.355	0.25569	N	0.986912	B	0.25521	0.128	B	0.24006	0.05	T	0.73780	-0.3875	10	0.66056	D	0.02	.	7.9582	0.30055	0.2609:0.6594:0.0:0.0797	.	254	Q8TCU5	NMD3A_HUMAN	I	254	ENSP00000355155:V254I	ENSP00000355155:V254I	V	-	1	0	GRIN3A	103489243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.284000	0.33249	1.406000	0.46857	0.455000	0.32223	GTC		0.383	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104449422	C	T	104449422	3	4	305	1	0	0	0	0	1	0	0	0	6783	478	17	2	2619	2	GRIN3A	9	104449422	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10	12501548	104449422	36764009	24	16500											
NUP188	23511	hgsc.bcm.edu	37	9	131745578	131745578	+	Silent	SNP	G	G	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr9:131745578G>A	ENST00000372577.2	+	18	1824	c.1803G>A	c.(1801-1803)acG>acA	p.T601T		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	601					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T601T(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCAGGTTAACGACAGTGATCT	0.453																																																1	Substitution - coding silent(1)	ovary(1)	9											196	185	189					9																	131745578		2203	4300	6503	130785399	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1803G>A	9.37:g.131745578G>A			130785399	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	CCDS35156.1																																																																																				0.453	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			A	131745578	G	A	131745578	2	1	305	1	0	0	0	0	0	0	0	1	10758	1045	37	1		1	NUP188	9	131745578	Silent	SNP	G	TCGA-25-1632-01A-01W-0615-10	27296156	131745578	9467853	25	16501											
ADAMTS14	140766	hgsc.bcm.edu	37	10	72520313	72520313	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr10:72520313G>T	ENST00000373207.1	+	22	3376	c.3376G>T	c.(3376-3378)Gac>Tac	p.D1126Y	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.D1129Y	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1126	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D1129Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGGACCCCAGGACCCTGCAGA	0.637																																																1	Substitution - Missense(1)	ovary(1)	10											50	52	51					10																	72520313		2203	4300	6503	72190319	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3376G>T	10.37:g.72520313G>T	ENSP00000362303:p.Asp1126Tyr		72190319	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	6.709	0.499405	0.12762	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61859	0.07;0.1	4.44	-1.61	0.08399	.	0.924044	0.08843	U	0.885605	T	0.25531	0.0621	N	0.08118	0	0.09310	N	1	B;B	0.22080	0.064;0.064	B;B	0.21546	0.035;0.035	T	0.22730	-1.0208	10	0.02654	T	1	.	1.8721	0.03210	0.187:0.1144:0.2021:0.4965	.	1126;1129	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	Y	1129;1126	ENSP00000362304:D1129Y;ENSP00000362303:D1126Y	ENSP00000362303:D1126Y	D	+	1	0	ADAMTS14	72190319	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.814000	0.04486	-0.430000	0.07318	-0.152000	0.13540	GAC		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72520313	G	T	72520313	3	4	305	1	0	0	0	0	1	0	0	0	259	1174	41	3	3471	3	ADAMTS14	10	72520313	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10		72520313	63014434	26	16502											
FAM190B	54462	hgsc.bcm.edu	37	10	86259652	86259652	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr10:86259652T>G	ENST00000224756.8	+	10	2532	c.2347T>G	c.(2347-2349)Ttc>Gtc	p.F783V	CCSER2_ENST00000543283.1_Missense_Mutation_p.F210V|CCSER2_ENST00000494144.1_Intron|CCSER2_ENST00000372088.2_Intron	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	783					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.F783V(1)									TGCTCCCTCCTTCTCTCCTTG	0.512																																																1	Substitution - Missense(1)	ovary(1)	10											133	118	123					10																	86259652		2203	4300	6503	86249632	SO:0001583	missense	54462				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2347T>G	10.37:g.86259652T>G	ENSP00000224756:p.Phe783Val		86249632	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173097	0.57584	.	.	ENSG00000107771	ENST00000224756;ENST00000543283	T;T	0.22539	2.28;1.95	5.96	5.96	0.96718	.	0.208890	0.41294	D	0.000917	T	0.21509	0.0518	L	0.44542	1.39	0.35247	D	0.778384	P	0.37330	0.59	B	0.38954	0.286	T	0.24621	-1.0155	10	0.25751	T	0.34	.	14.3921	0.66986	0.0:0.0:0.0:1.0	.	783	Q9H7U1	F190B_HUMAN	V	783;210	ENSP00000224756:F783V;ENSP00000439944:F210V	ENSP00000224756:F783V	F	+	1	0	FAM190B	86249632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.544000	0.60691	2.286000	0.76751	0.454000	0.30748	TTC		0.512	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		G	86259652	T	G	86259652	3	3	305	1	0	0	0	0	1	0	0	0	5522	1609	56	5	2381	5	FAM190B	10	86259652	Missense_Mutation	SNP	T	TCGA-25-1632-01A-01W-0615-10	13739339	86259652	49275095	27	16503											
OR51I1	390063	hgsc.bcm.edu	37	11	5461952	5461952	+	Missense_Mutation	SNP	G	G	A	rs145392841		TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr11:5461952G>A	ENST00000380211.1	-	1	792	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	265					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R265C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCAGAAGCGGTGAATCATG	0.483													G|||	1	0.000199681	0	0	5008	,	,		21327	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11											137	118	124					11																	5461952		2201	4297	6498	5418528	SO:0001583	missense	390063			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.793C>T	11.37:g.5461952G>A	ENSP00000369559:p.Arg265Cys		5418528	B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	CCDS31382.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.89	1.773166	0.31411	.	.	ENSG00000167359	ENST00000321307;ENST00000380211	T	0.37411	1.2	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.45994	0.1370	M	0.93150	3.385	0.39193	D	0.963006	B	0.30973	0.302	B	0.26094	0.066	T	0.59653	-0.7414	10	0.72032	D	0.01	.	7.4889	0.27449	0.0834:0.0:0.7497:0.1669	.	265	Q9H343	O51I1_HUMAN	C	262;265	ENSP00000369559:R265C	ENSP00000439622:R262C	R	-	1	0	OR51I1	5418528	0.263000	0.24083	0.537000	0.28052	0.695000	0.40330	1.221000	0.32503	2.593000	0.87608	0.551000	0.68910	CGC		0.483	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		A	5461952	G	A	5461952	3	1	305	1	0	0	0	0	1	0	0	0	11100	1116	39	1	155	1	OR51I1	11	5461952	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10		5461952	129544564	28	16504											
STYK1	55359	hgsc.bcm.edu	37	12	10783890	10783890	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr12:10783890G>C	ENST00000075503.3	-	5	725	c.205C>G	c.(205-207)Cca>Gca	p.P69A		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P69A(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TCCCTAGGTGGAGGAACAGGG	0.532										HNSCC(73;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											65	71	69					12																	10783890		2203	4300	6503	10675157	SO:0001583	missense	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.205C>G	12.37:g.10783890G>C	ENSP00000075503:p.Pro69Ala		10675157	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	7.254	0.603887	0.14002	.	.	ENSG00000060140	ENST00000075503;ENST00000542562;ENST00000538867	T;T;T	0.77229	-1.08;0.9;0.87	5.43	-8.4	0.00965	.	0.823514	0.11301	N	0.578223	T	0.54791	0.1880	L	0.38838	1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.16896	T	0.51	2.8869	3.2177	0.06705	0.467:0.1872:0.2509:0.0949	.	69	Q6J9G0	STYK1_HUMAN	A	69	ENSP00000075503:P69A;ENSP00000446241:P69A;ENSP00000445391:P69A	ENSP00000075503:P69A	P	-	1	0	STYK1	10675157	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-1.174000	0.03105	-1.817000	0.01219	-0.140000	0.14226	CCA		0.532	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		C	10783890	G	C	10783890	3	2	305	1	0	0	0	0	1	0	0	0	15361	1174	41	3	1091	3	STYK1	12	10783890	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10		10783890	123068005	29	16505											
PAN2	9924	hgsc.bcm.edu	37	12	56718841	56718841	+	Silent	SNP	A	A	C			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr12:56718841A>C	ENST00000425394.2	-	10	1927	c.1551T>G	c.(1549-1551)gcT>gcG	p.A517A	PAN2_ENST00000440411.3_Silent_p.A517A|PAN2_ENST00000257931.5_Silent_p.A517A|PAN2_ENST00000548043.1_Silent_p.A517A	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.A517A(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GCTCTAATCCAGCAAACAAGG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	12											223	213	217					12																	56718841		2203	4300	6503	55005108	SO:0001819	synonymous_variant	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1551T>G	12.37:g.56718841A>C			55005108		Silent	SNP	ENST00000425394.2	37	CCDS44922.1																																																																																				0.448	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		C	56718841	A	C	56718841	2	2	305	1	0	0	0	0	0	0	0	1	11414	175	7	5		5	PAN2	12	56718841	Silent	SNP	A	TCGA-25-1632-01A-01W-0615-10	45934951	56718841	77133054	30	16506											
KIAA0564	23078	hgsc.bcm.edu	37	13	42385438	42385438	+	Silent	SNP	C	C	G			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr13:42385438C>G	ENST00000379310.3	-	17	2054	c.1986G>C	c.(1984-1986)ctG>ctC	p.L662L	VWA8_ENST00000281496.6_Silent_p.L662L	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	662						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L662L(1)									AAATTCGCAACAGTTGTCTGG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	13											128	131	130					13																	42385438		2203	4300	6503	41283438	SO:0001819	synonymous_variant	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1986G>C	13.37:g.42385438C>G			41283438	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	CCDS41881.1																																																																																				0.398	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		G	42385438	C	G	42385438	2	3	305	1	0	0	0	0	0	0	0	1	8185	465	17	3		3	KIAA0564	13	42385438	Silent	SNP	C	TCGA-25-1632-01A-01W-0615-10		42385438	72784440	31	16507											
SLTM	79811	hgsc.bcm.edu	37	15	59189413	59189413	+	Silent	SNP	A	A	G			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr15:59189413A>G	ENST00000380516.2	-	9	1215	c.1128T>C	c.(1126-1128)agT>agC	p.S376S	SLTM_ENST00000536328.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	376					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S376S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACTGCTACCACTAGTACTAC	0.343																																																1	Substitution - coding silent(1)	ovary(1)	15											83	82	83					15																	59189413		2192	4292	6484	56976705	SO:0001819	synonymous_variant	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1128T>C	15.37:g.59189413A>G			56976705	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	CCDS10168.2																																																																																				0.343	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		G	59189413	A	G	59189413	2	3	305	1	0	0	0	0	0	0	0	1	14757	156	6	4		4	SLTM	15	59189413	Silent	SNP	A	TCGA-25-1632-01A-01W-0615-10		59189413	43341979	32	16508											
FAM65A	79567	hgsc.bcm.edu	37	16	67576923	67576923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr16:67576923C>A	ENST00000379312.3	+	13	2367	c.2246C>A	c.(2245-2247)tCa>tAa	p.S749*	CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.S759*|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.S765*|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.S765*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.S745*	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	749	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S745*(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCAGATCCCTCAGAGTCTACG	0.602																																																1	Substitution - Nonsense(1)	ovary(1)	16											97	107	104					16																	67576923		2198	4300	6498	66134424	SO:0001587	stop_gained	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2246C>A	16.37:g.67576923C>A	ENSP00000368614:p.Ser749*		66134424	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119447	0.94385	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.	.	.	5.2	2.1	0.27182	.	0.913413	0.09448	N	0.800797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.3111	5.0332	0.14421	0.1658:0.6548:0.0:0.1794	.	.	.	.	X	749;745;765;759	.	ENSP00000042381:S745X	S	+	2	0	FAM65A	66134424	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	-0.643000	0.05421	0.198000	0.20407	0.555000	0.69702	TCA		0.602	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		A	67576923	C	A	67576923	4	1	305	1	0	0	0	0	0	1	0	0	5599	838	29	3	2280	3	FAM65A	16	67576923	Nonsense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10		67576923	22777830	33	16509											
TP53	7157	hgsc.bcm.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	C	rs397516437|rs121912651		TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr17:7577539G>C	ENST00000269305.4	-	7	931	c.742C>G	c.(742-744)Cgg>Ggg	p.R248G	TP53_ENST00000420246.2_Missense_Mutation_p.R248G|TP53_ENST00000455263.2_Missense_Mutation_p.R248G|TP53_ENST00000413465.2_Missense_Mutation_p.R248G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248G|TP53_ENST00000359597.4_Missense_Mutation_p.R248G	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	7518264	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.742C>G	17.37:g.7577539G>C	ENSP00000269305:p.Arg248Gly		7518264	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	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197951	0.58126	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	D	0.999991	D;D;D;P;P;D	0.89917	0.961;0.973;1.0;0.938;0.59;1.0	P;D;D;P;P;D	0.97110	0.885;0.942;1.0;0.877;0.826;0.999	D	0.98109	1.0419	10	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	G	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248G;ENSP00000352610:R248G;ENSP00000269305:R248G;ENSP00000398846:R248G;ENSP00000391127:R248G;ENSP00000391478:R248G;ENSP00000425104:R116G;ENSP00000423862:R155G	ENSP00000269305:R248G	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577539	G	C	7577539	3	2	305	1	0	0	0	0	1	0	0	0	16381	1115	39	3	548	3	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10		7577539	73617671	34	16510											
MYH2	4620	hgsc.bcm.edu	37	17	10440647	10440647	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr17:10440647G>T	ENST00000245503.5	-	16	2184	c.1800C>A	c.(1798-1800)aaC>aaA	p.N600K	MYH2_ENST00000397183.2_Missense_Mutation_p.N600K|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.N600K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	600	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.N600K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGGGTCCTTGTTCTTCTCCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	17											136	138	137					17																	10440647		2203	4300	6503	10381372	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1800C>A	17.37:g.10440647G>T	ENSP00000245503:p.Asn600Lys		10381372	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667282	0.47677	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.93247	-3.19;-3.19;-3.19	5.53	3.36	0.38483	Myosin head, motor domain (2);	0.000000	0.42821	U	0.000653	D	0.98381	0.9462	H	0.99977	5.17	0.48135	D	0.999594	D;B	0.71674	0.998;0.025	D;B	0.87578	0.998;0.15	D	0.97079	0.9783	10	0.87932	D	0	.	10.2968	0.43629	0.2096:0.0:0.7904:0.0	.	600;600	Q567P6;Q9UKX2	.;MYH2_HUMAN	K	600	ENSP00000433944:N600K;ENSP00000245503:N600K;ENSP00000380367:N600K	ENSP00000245503:N600K	N	-	3	2	MYH2	10381372	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	6.732000	0.74790	1.354000	0.45846	-0.142000	0.14014	AAC		0.522	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10440647	G	T	10440647	3	4	305	1	0	0	0	0	1	0	0	0	10035	1368	48	3	4125	3	MYH2	17	10440647	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10	2863108	10440647	70754563	35	16511											
HNF1B	6928	hgsc.bcm.edu	37	17	36093625	36093625	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr17:36093625A>G	ENST00000225893.4	-	3	1095	c.734T>C	c.(733-735)aTc>aCc	p.I245T	HNF1B_ENST00000560016.1_Missense_Mutation_p.I245T|HNF1B_ENST00000561193.1_Missense_Mutation_p.I219T|HNF1B_ENST00000427275.2_Missense_Mutation_p.I219T	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	245					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I245T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CTGGTACAAGATTTGCTGGGA	0.582																																					Colon(71;102 1179 9001 27917 43397)											1	Substitution - Missense(1)	ovary(1)	17											135	126	129					17																	36093625		2203	4300	6503	33167738	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.734T>C	17.37:g.36093625A>G	ENSP00000225893:p.Ile245Thr		33167738	B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845822	0.71603	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.96334	-3.98;-3.98	4.88	4.88	0.63580	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.071350	0.85682	D	0.000000	D	0.97489	0.9178	M	0.77103	2.36	0.80722	D	1	P;P;P	0.51537	0.946;0.881;0.72	D;P;B	0.65140	0.932;0.69;0.434	D	0.96769	0.9567	10	0.27785	T	0.31	-5.078	14.0863	0.64959	1.0:0.0:0.0:0.0	.	219;245;245	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	T	245;219;245;133	ENSP00000225893:I245T;ENSP00000412212:I219T	ENSP00000225893:I245T	I	-	2	0	HNF1B	33167738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.709000	0.91379	2.167000	0.68274	0.482000	0.46254	ATC		0.582	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		G	36093625	A	G	36093625	3	3	305	1	0	0	0	0	1	0	0	0	7252	333	12	4	967	4	HNF1B	17	36093625	Missense_Mutation	SNP	A	TCGA-25-1632-01A-01W-0615-10	25652978	36093625	45101585	36	16512											
BRCA1	672	hgsc.bcm.edu	37	17	41243899	41243900	+	Frame_Shift_Ins	INS	-	-	TAAGTTCT	rs273900712|rs80357902		TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr17:41243899_41243900insTAAGTTCT	ENST00000357654.3	-	10	3766_3767	c.3648_3649insAGAACTTA	c.(3646-3651)ttatctfs	p.S1217fs	BRCA1_ENST00000309486.4_Frame_Shift_Ins_p.S921fs|BRCA1_ENST00000346315.3_Frame_Shift_Ins_p.S1217fs|BRCA1_ENST00000471181.2_Frame_Shift_Ins_p.S1217fs|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Ins_p.S1170fs|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Ins_p.S1217fs|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1217			S -> Y (in BC and BROVCA1). {ECO:0000269|PubMed:14722926}.		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1217fs*21(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCTCACTAGATAAGTTCTCTT	0.455			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Insertion - Frameshift(1)	ovary(1)	17	GRCh37	CI011224	BRCA1	I	rs80357902																																			38497426	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3641_3648dupAGAACTTA	17.37:g.41243900_41243907dupTAAGTTCT	ENSP00000350283:p.Ser1217fs		38497425	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Ins	INS	ENST00000357654.3	37	CCDS11453.1																																																																																				0.455	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		TAAGTTCT	41243900	-	TAAGTTCT	41243899	7	5	305	1	0	1	1	0	0	0	0	0	1498	333	12	0	2068	0	BRCA1	17	41243899	Frame_Shift_Ins	INS	-	TCGA-25-1632-01A-01W-0615-10	5150274	41243899	39951311	37	16513											
ITGA3	3675	hgsc.bcm.edu	37	17	48148246	48148246	+	Missense_Mutation	SNP	T	T	C	rs539540896		TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chr17:48148246T>C	ENST00000320031.8	+	5	1033	c.703T>C	c.(703-705)Tct>Cct	p.S235P	ITGA3_ENST00000007722.7_Missense_Mutation_p.S235P|ITGA3_ENST00000544892.1_Missense_Mutation_p.S10P	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	235					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.S235P(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTGGGACTTATCTGAGTATAG	0.493													T|||	1	0.000199681	0	0	5008	,	,		16516	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	17											205	211	209					17																	48148246		2203	4300	6503	45503245	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.703T>C	17.37:g.48148246T>C	ENSP00000315190:p.Ser235Pro		45503245	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.636343	0.67130	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.54071	0.59;0.59;0.59	5.69	5.69	0.88448	.	1.181470	0.05840	N	0.619190	T	0.56543	0.1992	L	0.31526	0.94	0.22017	N	0.999418	D;B	0.56287	0.975;0.004	P;B	0.53450	0.726;0.002	T	0.47484	-0.9114	10	0.30078	T	0.28	.	12.336	0.55067	0.0:0.0:0.0:1.0	.	235;235	P26006-1;P26006	.;ITA3_HUMAN	P	10;235;221;235	ENSP00000446133:S10P;ENSP00000007722:S235P;ENSP00000315190:S235P	ENSP00000007722:S235P	S	+	1	0	ITGA3	45503245	0.702000	0.27816	0.359000	0.25824	0.978000	0.69477	1.912000	0.39946	2.166000	0.68216	0.533000	0.62120	TCT		0.493	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		C	48148246	T	C	48148246	3	2	305	1	0	0	0	0	1	0	0	0	7877	1435	50	4	721	4	ITGA3	17	48148246	Missense_Mutation	SNP	T	TCGA-25-1632-01A-01W-0615-10	6904347	48148246	33046964	38	16514											
TBL1X	6907	hgsc.bcm.edu	37	X	9673064	9673064	+	Missense_Mutation	SNP	C	C	A	rs367740531		TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chrX:9673064C>A	ENST00000217964.7	+	13	1786	c.1146C>A	c.(1144-1146)aaC>aaA	p.N382K	TBL1X_ENST00000407597.2_Missense_Mutation_p.N382K|TBL1X_ENST00000424279.1_Missense_Mutation_p.N331K|TBL1X_ENST00000380961.1_Missense_Mutation_p.N331K|TBL1X_ENST00000536365.1_Missense_Mutation_p.N331K	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	382					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N382K(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GGCAGAACAACACGACCTTTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	X											230	135	167					X																	9673064		2203	4300	6503	9633064	SO:0001583	missense	6907			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1146C>A	X.37:g.9673064C>A	ENSP00000217964:p.Asn382Lys		9633064	A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123256	0.56613	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	3.75	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.66939	2.045	0.58432	D	0.999999	D;P	0.57571	0.98;0.868	P;P	0.59703	0.862;0.752	D	0.84162	0.0429	10	0.46703	T	0.11	.	9.4496	0.38719	0.0:0.8969:0.0:0.103	.	345;382	Q59F53;O60907	.;TBL1X_HUMAN	K	382;331;331;331;382	ENSP00000385988:N382K;ENSP00000394097:N331K;ENSP00000445317:N331K;ENSP00000370348:N331K;ENSP00000217964:N382K	ENSP00000217964:N382K	N	+	3	2	TBL1X	9633064	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	5.597000	0.67577	1.630000	0.50440	0.600000	0.82982	AAC		0.527	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		A	9673064	C	A	9673064	3	1	305	1	0	0	0	0	1	0	0	0	15639	477	17	3	1184	3	TBL1X	23	9673064	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10		9673064	145597496	39	16515											
SHROOM2	357	hgsc.bcm.edu	37	X	9841753	9841753	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chrX:9841753G>A	ENST00000380913.3	+	2	317	c.227G>A	c.(226-228)gGc>gAc	p.G76D	Y_RNA_ENST00000384117.1_RNA	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	76	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.G76D(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGATCGTCGGCATCAATGAC	0.517											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	X											110	92	98					X																	9841753		2203	4300	6503	9801753	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.227G>A	X.37:g.9841753G>A	ENSP00000370299:p.Gly76Asp	660	9801753	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803825	0.16467	.	.	ENSG00000146950	ENST00000380913	T	0.28255	1.62	5.23	2.42	0.29668	PDZ/DHR/GLGF (4);	0.368556	0.27917	N	0.017338	T	0.18551	0.0445	N	0.19112	0.55	0.80722	D	1	P	0.34615	0.459	B	0.36186	0.219	T	0.05007	-1.0912	10	0.52906	T	0.07	-34.1846	6.4756	0.22034	0.156:0.2836:0.5604:0.0	.	76	Q13796	SHRM2_HUMAN	D	76	ENSP00000370299:G76D	ENSP00000370299:G76D	G	+	2	0	SHROOM2	9801753	1.000000	0.71417	0.148000	0.22405	0.001000	0.01503	2.817000	0.48034	0.088000	0.17205	-0.229000	0.12294	GGC		0.517	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		A	9841753	G	A	9841753	3	1	305	1	0	0	0	0	1	0	0	0	14297	1203	42	2	233	2	SHROOM2	23	9841753	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10	168689	9841753	145428807	40	16516											
TAB3	257397	hgsc.bcm.edu	37	X	30873227	30873227	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chrX:30873227C>T	ENST00000378933.1	-	3	732	c.555G>A	c.(553-555)atG>atA	p.M185I	TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000288422.2_Missense_Mutation_p.M185I|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.M185I|TAB3_ENST00000378932.2_Missense_Mutation_p.M185I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	185	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.M185I(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GAGGTATGTGCATGTATGAAG	0.468																																					Pancreas(164;1598 1985 29022 43301 49529)											1	Substitution - Missense(1)	ovary(1)	X											179	135	150					X																	30873227		2202	4300	6502	30783148	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.555G>A	X.37:g.30873227C>T	ENSP00000368215:p.Met185Ile		30783148	A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	6.088	0.384530	0.11524	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.63	5.01	4.08	0.47627	.	0.095657	0.64402	D	0.000002	T	0.58323	0.2114	L	0.36672	1.1	0.38871	D	0.956697	B;B	0.33103	0.397;0.276	B;B	0.30943	0.122;0.057	T	0.59048	-0.7527	10	0.21014	T	0.42	-3.1236	14.2768	0.66184	0.0:0.8544:0.1456:0.0	.	185;185	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	I	185	ENSP00000368215:M185I;ENSP00000368212:M185I;ENSP00000288422:M185I;ENSP00000368214:M185I	ENSP00000288422:M185I	M	-	3	0	TAB3	30783148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.692000	0.54727	2.219000	0.72066	0.600000	0.82982	ATG		0.468	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		T	30873227	C	T	30873227	3	4	305	1	0	0	0	0	1	0	0	0	15497	710	25	2	1607	2	TAB3	23	30873227	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10	21031474	30873227	124397333	41	16517											
OGT	8473	hgsc.bcm.edu	37	X	70757809	70757809	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chrX:70757809C>T	ENST00000373719.3	+	3	566	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	OGT_ENST00000373701.3_Missense_Mutation_p.R107C|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.R107C(1)|p.R117C(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACATGCATTGCGTCTCAAACC	0.493																																																2	Substitution - Missense(2)	ovary(2)	X											162	130	141					X																	70757809		2203	4300	6503	70674534	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.349C>T	X.37:g.70757809C>T	ENSP00000362824:p.Arg117Cys		70674534	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	c	18.55	3.647248	0.67358	.	.	ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774	T;T;T	0.61040	0.14;0.14;0.14	4.86	4.86	0.63082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.105470	0.64402	D	0.000011	T	0.79257	0.4415	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73708	0.981;0.937;0.941	D	0.83643	0.0151	10	0.72032	D	0.01	-19.0221	12.3845	0.55325	0.1679:0.8321:0.0:0.0	.	117;107;117	B4DTL6;O15294-3;O15294	.;.;OGT1_HUMAN	C	117;107;100	ENSP00000362824:R117C;ENSP00000362805:R107C;ENSP00000399729:R100C	ENSP00000362805:R107C	R	+	1	0	OGT	70674534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.807000	0.47955	2.259000	0.74868	0.525000	0.51046	CGT		0.493	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		T	70757809	C	T	70757809	3	4	305	1	0	0	0	0	1	0	0	0	10847	768	27	1	359	1	OGT	23	70757809	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10	39884582	70757809	84512751	42	16518											
SRPX2	27286	hgsc.bcm.edu	37	X	99925848	99925848	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chrX:99925848T>A	ENST00000373004.3	+	11	1690	c.1262T>A	c.(1261-1263)aTt>aAt	p.I421N	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	421					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.I421N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATGGTGTTGATTGACAAGCAG	0.517											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	X											174	134	148					X																	99925848		2203	4300	6503	99812504	SO:0001583	missense	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1262T>A	X.37:g.99925848T>A	ENSP00000362095:p.Ile421Asn	1347	99812504	B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616715	0.87359	.	.	ENSG00000102359	ENST00000373004	T	0.56941	0.43	5.09	5.09	0.68999	.	0.196814	0.45606	D	0.000350	T	0.49321	0.1550	L	0.34521	1.04	0.49915	D	0.99983	P	0.48503	0.911	P	0.48524	0.58	T	0.44081	-0.9351	9	.	.	.	-3.5913	14.0189	0.64541	0.0:0.0:0.0:1.0	.	421	O60687	SRPX2_HUMAN	N	421	ENSP00000362095:I421N	.	I	+	2	0	SRPX2	99812504	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.030000	0.76484	1.885000	0.54596	0.425000	0.28330	ATT		0.517	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		A	99925848	T	A	99925848	3	1	305	1	0	0	0	0	1	0	0	0	15167	1493	52	5	1300	5	SRPX2	23	99925848	Missense_Mutation	SNP	T	TCGA-25-1632-01A-01W-0615-10	29168039	99925848	55344712	43	16519											
TEX13B	56156	hgsc.bcm.edu	37	X	107225184	107225184	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chrX:107225184C>A	ENST00000302917.1	-	2	266	c.174G>T	c.(172-174)gaG>gaT	p.E58D		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	58								p.E58D(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CGCTGGGCACCTCGCTGTCCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	X											97	89	92					X																	107225184		2199	4300	6499	107111840	SO:0001583	missense	56156			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.174G>T	X.37:g.107225184C>A	ENSP00000303777:p.Glu58Asp		107111840	Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118952	0.37436	.	.	ENSG00000170925	ENST00000302917	.	.	.	2.96	-0.793	0.10922	.	.	.	.	.	T	0.34542	0.0901	L	0.47190	1.495	0.09310	N	1	P	0.52692	0.955	P	0.53861	0.736	T	0.16660	-1.0395	8	0.36615	T	0.2	.	0.6012	0.00745	0.2164:0.3693:0.2095:0.2048	.	58	Q9BXU2	TX13B_HUMAN	D	58	.	ENSP00000303777:E58D	E	-	3	2	TEX13B	107111840	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.899000	0.01600	-0.307000	0.08804	-0.357000	0.07601	GAG		0.607	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			A	107225184	C	A	107225184	3	1	305	1	0	0	0	0	1	0	0	0	15777	680	24	3	772	3	TEX13B	23	107225184	Missense_Mutation	SNP	C	TCGA-25-1632-01A-01W-0615-10	7299336	107225184	48045376	44	16520											
NKAP	79576	hgsc.bcm.edu	37	X	119077253	119077253	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1632-01A-01W-0615-10	TCGA-25-1632-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	efea115f-a74f-4b67-824e-4fde7394b536	45f03084-1cf8-40a8-b71c-d6613bc58e49	g.chrX:119077253G>A	ENST00000371410.3	-	1	482	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	106					granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R106C(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CCGTAGGGGCGCGAGTAGCTG	0.647																																																1	Substitution - Missense(1)	ovary(1)	X											26	27	27					X																	119077253		2203	4291	6494	118961281	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.316C>T	X.37:g.119077253G>A	ENSP00000360464:p.Arg106Cys		118961281	Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	g	11.46	1.644058	0.29246	.	.	ENSG00000101882	ENST00000371410	T	0.15834	2.39	3.95	3.06	0.35304	.	0.683791	0.15104	N	0.280366	T	0.13970	0.0338	L	0.38175	1.15	0.52501	D	0.99995	D	0.63880	0.993	B	0.41135	0.348	T	0.04796	-1.0926	10	0.62326	D	0.03	-6.3813	10.3251	0.43787	0.0:0.1969:0.8031:0.0	.	106	Q8N5F7	NKAP_HUMAN	C	106	ENSP00000360464:R106C	ENSP00000360464:R106C	R	-	1	0	NKAP	118961281	1.000000	0.71417	0.926000	0.36857	0.071000	0.16799	4.514000	0.60482	1.014000	0.39417	0.600000	0.82982	CGC		0.647	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		A	119077253	G	A	119077253	3	1	305	1	0	0	0	0	1	0	0	0	10439	1087	38	1	967	1	NKAP	23	119077253	Missense_Mutation	SNP	G	TCGA-25-1632-01A-01W-0615-10	11852069	119077253	36193307	45	16521											
CDC20	991	hgsc.bcm.edu	37	1	43827963	43827963	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr1:43827963C>A	ENST00000372462.1	+	9	1504	c.1301C>A	c.(1300-1302)gCc>gAc	p.A434D	ELOVL1_ENST00000470769.1_5'Flank|CDC20_ENST00000310955.6_Missense_Mutation_p.A434D			Q12834	CDC20_HUMAN	cell division cycle 20	434					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)	p.A434D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ccaaccatggccaaggtggct	0.478																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											1	Substitution - Missense(1)	ovary(1)	1											64	56	59					1																	43827963		2203	4300	6503	43600550	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1301C>A	1.37:g.43827963C>A	ENSP00000361540:p.Ala434Asp		43600550	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	CCDS484.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190231	0.58017	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.28895	1.59;1.59	5.84	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.541973	0.22840	N	0.054986	T	0.19725	0.0474	N	0.05383	-0.06	0.50467	D	0.999877	B	0.12630	0.006	B	0.19946	0.027	T	0.04333	-1.0959	10	0.66056	D	0.02	-4.2979	14.9456	0.71029	0.0:0.9316:0.0:0.0684	.	434	Q12834	CDC20_HUMAN	D	410;434;434	ENSP00000308450:A434D;ENSP00000361540:A434D	ENSP00000308450:A434D	A	+	2	0	CDC20	43600550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.144000	0.50616	1.478000	0.48253	0.561000	0.74099	GCC		0.478	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		A	43827963	C	A	43827963	3	1	306	1	0	0	0	0	1	0	0	0	3059	739	26	3	1335	3	CDC20	1	43827963	Missense_Mutation	SNP	C	TCGA-25-1633-01A-01W-0615-10		43827963	205422658	1	16522											
CYP4A11	1579	hgsc.bcm.edu	37	1	47401277	47401277	+	Missense_Mutation	SNP	C	C	A	rs62618709		TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr1:47401277C>A	ENST00000310638.4	-	5	584	c.553G>T	c.(553-555)Gtc>Ttc	p.V185F	CYP4A11_ENST00000371904.4_Missense_Mutation_p.V185F|CYP4A11_ENST00000457840.2_Missense_Mutation_p.V81F|CYP4A11_ENST00000462347.1_Missense_Mutation_p.V185F|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.V185F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	185					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.V185F(3)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TGCTGAAAGACCTCCAGAGGG	0.542																																																3	Substitution - Missense(3)	ovary(2)|large_intestine(1)	1											84	69	74					1																	47401277		2203	4298	6501	47173864	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.553G>T	1.37:g.47401277C>A	ENSP00000311095:p.Val185Phe		47173864	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	17.32	3.360913	0.61403	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.45	5.14	-6.37	0.01963	.	0.621999	0.16471	N	0.212985	T	0.65523	0.2699	M	0.65975	2.015	0.26764	N	0.969943	P	0.41947	0.766	P	0.45794	0.493	T	0.64063	-0.6495	10	0.59425	D	0.04	.	8.6725	0.34159	0.0:0.3111:0.2715:0.4174	rs62618709	185	Q02928	CP4AB_HUMAN	F	185;185;185;81	ENSP00000311095:V185F;ENSP00000360971:V185F;ENSP00000360972:V185F;ENSP00000406272:V81F	ENSP00000311095:V185F	V	-	1	0	CYP4A11	47173864	0.000000	0.05858	0.343000	0.25615	0.146000	0.21551	-0.730000	0.04915	-0.867000	0.04063	-0.827000	0.03088	GTC		0.542	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		A	47401277	C	A	47401277	3	1	306	1	0	0	0	0	1	0	0	0	4183	507	18	3	1038	3	CYP4A11	1	47401277	Missense_Mutation	SNP	C	TCGA-25-1633-01A-01W-0615-10	3573314	47401277	201849344	2	16523											
SPAG17	200162	hgsc.bcm.edu	37	1	118644399	118644399	+	Missense_Mutation	SNP	G	G	A	rs143258028		TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr1:118644399G>A	ENST00000336338.5	-	5	663	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	200						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R200W(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTCCTCTCCGCTTTAACTGG	0.507													G|||	1	0.000199681	8e-04	0	5008	,	,		18486	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											297	250	266					1																	118644399		2203	4300	6503	118445922	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.598C>T	1.37:g.118644399G>A	ENSP00000337804:p.Arg200Trp		118445922	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.80	2.046115	0.36085	.	.	ENSG00000155761	ENST00000336338	T	0.70986	-0.53	5.24	3.3	0.37823	.	0.114058	0.64402	D	0.000020	T	0.72003	0.3407	M	0.74881	2.28	0.21020	N	0.999803	D	0.76494	0.999	P	0.61003	0.882	T	0.67515	-0.5651	10	0.87932	D	0	.	12.1288	0.53932	0.0:0.0:0.66:0.34	.	200	Q6Q759	SPG17_HUMAN	W	200	ENSP00000337804:R200W	ENSP00000337804:R200W	R	-	1	2	SPAG17	118445922	0.388000	0.25197	0.229000	0.23960	0.094000	0.18550	3.003000	0.49505	0.642000	0.30620	-0.324000	0.08512	CGG		0.507	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118644399	G	A	118644399	3	1	306	1	0	0	0	0	1	0	0	0	14982	1086	38	1	6249	1	SPAG17	1	118644399	Missense_Mutation	SNP	G	TCGA-25-1633-01A-01W-0615-10	71243122	118644399	130606222	3	16524											
SFMBT1	51460	hgsc.bcm.edu	37	3	52960128	52960128	+	Splice_Site	SNP	G	G	A			TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr3:52960128G>A	ENST00000394752.3	-	10	1432	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	SFMBT1_ENST00000394750.1_Splice_Site_p.G350G|SFMBT1_ENST00000296295.6_Splice_Site_p.G350G|SFMBT1_ENST00000358080.2_Splice_Site_p.G350G	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	350					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.G350G(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGCTTGGGTAGCCTAGGTGGG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	3											137	116	123					3																	52960128		2203	4300	6503	52935168	SO:0001630	splice_region_variant	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1049-1C>T	3.37:g.52960128G>A			52935168	Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	ENST00000394752.3	37	CCDS2867.1																																																																																				0.577	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	Silent	A	52960128	G	A	52960128	5	1	306	1	0	0	0	0	0	0	1	0	14160	985	34	2	1598	2	SFMBT1	3	52960128	Splice_Site	SNP	G	TCGA-25-1633-01A-01W-0615-10		52960128	145062302	4	16525											
SEMA5B	54437	hgsc.bcm.edu	37	3	122642539	122642539	+	Silent	SNP	G	G	A			TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr3:122642539G>A	ENST00000357599.3	-	10	1583	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	SEMA5B_ENST00000195173.4_Silent_p.F399F|SEMA5B_ENST00000451055.2_Silent_p.F453F	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	399	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.N400delN(1)|p.N454delN(1)|p.F399F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ATGGGCCATTGAAAGCCTGGG	0.567																																																3	Deletion - In frame(2)|Substitution - coding silent(1)	kidney(2)|ovary(1)	3											109	108	108					3																	122642539		2203	4300	6503	124125229	SO:0001819	synonymous_variant	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1197C>T	3.37:g.122642539G>A			124125229	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	CCDS35491.1																																																																																				0.567	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		A	122642539	G	A	122642539	2	1	306	1	0	0	0	0	0	0	0	1	14041	1281	45	2		2	SEMA5B	3	122642539	Silent	SNP	G	TCGA-25-1633-01A-01W-0615-10	69682411	122642539	75379891	5	16526											
C5orf35	133383	hgsc.bcm.edu	37	5	56212700	56212700	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr5:56212700T>A	ENST00000285947.2	+	6	1257	c.871T>A	c.(871-873)Ttt>Att	p.F291I	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	291	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)	p.F291I(1)									AGAAGAGCTTTTTTCAAACTA	0.333																																																1	Substitution - Missense(1)	ovary(1)	5											138	130	133					5																	56212700		2203	4300	6503	56248457	SO:0001583	missense	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.871T>A	5.37:g.56212700T>A	ENSP00000285947:p.Phe291Ile		56248457	F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.015566	0.93404	.	.	ENSG00000155542	ENST00000285947	T	0.46451	0.87	5.19	5.19	0.71726	.	0.051004	0.85682	D	0.000000	T	0.63628	0.2527	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.67635	-0.5620	10	0.59425	D	0.04	-5.6054	15.0425	0.71803	0.0:0.0:0.0:1.0	.	291	Q8NE22	CE035_HUMAN	I	291	ENSP00000285947:F291I	ENSP00000285947:F291I	F	+	1	0	C5orf35	56248457	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.473000	0.60196	1.963000	0.57068	0.477000	0.44152	TTT		0.333	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		A	56212700	T	A	56212700	3	1	306	1	0	0	0	0	1	0	0	0	2294	1841	64	5	893	5	C5orf35	5	56212700	Missense_Mutation	SNP	T	TCGA-25-1633-01A-01W-0615-10		56212700	124702560	6	16527											
TXNDC15	79770	hgsc.bcm.edu	37	5	134229209	134229209	+	Missense_Mutation	SNP	G	G	A	rs147527860		TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr5:134229209G>A	ENST00000358387.4	+	3	1244	c.619G>A	c.(619-621)Ggt>Agt	p.G207S	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G184S	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	207	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G207S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACCCAAACGGTAGTGACTG	0.453													G|||	1	0.000199681	8e-04	0	5008	,	,		19231	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5						G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	190	187	188		619	5	0.9	5	dbSNP_134	188	0,8600		0,0,4300	yes	missense	TXNDC15	NM_024715.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	207/361	134229209	1,13005	2203	4300	6503	134257108	SO:0001583	missense	79770			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 14"	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.619G>A	5.37:g.134229209G>A	ENSP00000351157:p.Gly207Ser		134257108	D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	CCDS4180.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.02	1.515829	0.27123	2.27E-4	0.0	ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290	T;T	0.20598	2.06;2.06	6.07	5.03	0.67393	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.128871	0.64402	D	0.000002	T	0.08980	0.0222	N	0.04959	-0.14	0.36966	D	0.893562	P	0.47841	0.901	B	0.39068	0.289	T	0.21109	-1.0255	10	0.18710	T	0.47	-0.6919	10.2367	0.43288	0.1813:0.0:0.8187:0.0	.	207	Q96J42	TXD15_HUMAN	S	191;207;184	ENSP00000351157:G207S;ENSP00000443942:G184S	ENSP00000351157:G207S	G	+	1	0	TXNDC15	134257108	0.998000	0.40836	0.940000	0.37924	0.422000	0.31414	2.890000	0.48609	2.884000	0.98904	0.655000	0.94253	GGT		0.453	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		A	134229209	G	A	134229209	3	1	306	1	0	0	0	0	1	0	0	0	16794	1116	39	1	629	1	TXNDC15	5	134229209	Missense_Mutation	SNP	G	TCGA-25-1633-01A-01W-0615-10	78016509	134229209	46686051	7	16528											
BAT3	7917	hgsc.bcm.edu	37	6	31614186	31614186	+	Silent	SNP	C	C	T			TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr6:31614186C>T	ENST00000375964.6	-	8	1234	c.921G>A	c.(919-921)acG>acA	p.T307T	BAG6_ENST00000362049.6_Silent_p.T301T|BAG6_ENST00000439687.2_Silent_p.T301T|BAG6_ENST00000375976.4_Silent_p.T301T|BAG6_ENST00000404765.2_Silent_p.T301T|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Silent_p.T301T	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	307	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.T301T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TATTGTAGTCCGTGGTGGCAG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	6											119	112	115					6																	31614186		1511	2709	4220	31722165	SO:0001819	synonymous_variant	7917			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.921G>A	6.37:g.31614186C>T			31722165	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	CCDS47403.1																																																																																				0.562	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		T	31614186	C	T	31614186	2	4	306	1	0	0	0	0	0	0	0	1	1322	639	23	1		1	BAT3	6	31614186	Silent	SNP	C	TCGA-25-1633-01A-01W-0615-10		31614186	139500881	8	16529											
RXRA	6256	hgsc.bcm.edu	37	9	137313652	137313652	+	Splice_Site	SNP	G	G	T			TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr9:137313652G>T	ENST00000481739.1	+	6	962		c.e6+1		RXRA_ENST00000356384.4_Splice_Site|RXRA_ENST00000540193.1_Splice_Site	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha						camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CTGCGGGCAGGTGAGTGGCGA	0.647																																																1	Unknown(1)	ovary(1)	9											82	68	73					9																	137313652		2203	4300	6503	136453473	SO:0001630	splice_region_variant	6256			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.910+1G>T	9.37:g.137313652G>T			136453473	B3KY83|Q2NL52|Q2V504	Splice_Site	SNP	ENST00000481739.1	37	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403580	0.83230	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2581	0.87063	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RXRA	136453473	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	9.335000	0.96500	2.055000	0.61198	0.485000	0.47835	.		0.647	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957	Intron	T	137313652	G	T	137313652	5	4	306	1	0	0	0	0	0	0	1	0	13766	1275	44	3	933	3	RXRA	9	137313652	Splice_Site	SNP	G	TCGA-25-1633-01A-01W-0615-10		137313652	3899779	9	16530											
PLEKHA7	144100	hgsc.bcm.edu	37	11	16892690	16892690	+	Silent	SNP	C	C	T	rs372406927		TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr11:16892690C>T	ENST00000355661.3	-	4	271	c.261G>A	c.(259-261)acG>acA	p.T87T	PLEKHA7_ENST00000448080.2_Silent_p.T87T|PLEKHA7_ENST00000531066.1_Silent_p.T87T|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	87	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.T87T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AAAACTGTCCCGTCACAGGAT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	11						C		0,4400		0,0,2200	122	119	120		261	-12.1	0.1	11		120	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	PLEKHA7	NM_175058.4		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		87/1122	16892690	1,12987	2200	4294	6494	16849266	SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.261G>A	11.37:g.16892690C>T			16849266	B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1																																																																																				0.423	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		T	16892690	C	T	16892690	2	4	306	1	0	0	0	0	0	0	0	1	12061	639	23	1		1	PLEKHA7	11	16892690	Silent	SNP	C	TCGA-25-1633-01A-01W-0615-10		16892690	118113826	10	16531											
STAB2	55576	hgsc.bcm.edu	37	12	104105290	104105290	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr12:104105290G>A	ENST00000388887.2	+	40	4534	c.4330G>A	c.(4330-4332)Gcc>Acc	p.A1444T		NM_017564.9	NP_060034.9			stabilin 2									p.A1444T(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATACCAGCGCCAAGTAGGT	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											108	102	104					12																	104105290		2203	4300	6503	102629420	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4330G>A	12.37:g.104105290G>A	ENSP00000373539:p.Ala1444Thr		102629420		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117487	0.77323	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.88124	-2.34	5.87	5.87	0.94306	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.055507	0.64402	D	0.000001	D	0.93884	0.8043	M	0.92317	3.295	0.58432	D	0.999992	D	0.65815	0.995	P	0.53146	0.719	D	0.94532	0.7737	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1444	Q8WWQ8	STAB2_HUMAN	T	1444;131	ENSP00000373539:A1444T	ENSP00000258495:A131T	A	+	1	0	STAB2	102629420	1.000000	0.71417	0.979000	0.43373	0.147000	0.21601	7.157000	0.77461	2.941000	0.99782	0.655000	0.94253	GCC		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104105290	G	A	104105290	3	1	306	1	0	0	0	0	1	0	0	0	15240	1087	38	1	4488	1	STAB2	12	104105290	Missense_Mutation	SNP	G	TCGA-25-1633-01A-01W-0615-10		104105290	29746605	11	16532											
ABCC4	10257	hgsc.bcm.edu	37	13	95858995	95858995	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr13:95858995C>T	ENST00000376887.4	-	8	1066	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	ABCC4_ENST00000431522.1_Missense_Mutation_p.G318R|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.G318R|ABCC4_ENST00000536256.1_Missense_Mutation_p.G243R	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	318	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.G318R(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AAATTCATCCCTCTGAGGCAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	13											159	157	158					13																	95858995		2203	4300	6503	94656996	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.952G>A	13.37:g.95858995C>T	ENSP00000366084:p.Gly318Arg		94656996	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106715	0.94292	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.59	5.59	0.84812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.049745	0.85682	D	0.000000	D	0.96131	0.8739	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.64830	0.984;0.994;0.986;0.994;0.988	D;D;D;D;D	0.73708	0.962;0.981;0.955;0.981;0.973	D	0.96831	0.9611	10	0.87932	D	0	.	19.1869	0.93647	0.0:1.0:0.0:0.0	.	243;318;318;318;318	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	R	318;318;243;318	ENSP00000388657:G318R;ENSP00000366084:G318R;ENSP00000442024:G243R;ENSP00000398562:G318R	ENSP00000366084:G318R	G	-	1	0	ABCC4	94656996	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.206000	0.77891	2.608000	0.88229	0.655000	0.94253	GGG		0.463	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		T	95858995	C	T	95858995	3	4	306	1	0	0	0	0	1	0	0	0	55	681	24	2	3170	2	ABCC4	13	95858995	Missense_Mutation	SNP	C	TCGA-25-1633-01A-01W-0615-10		95858995	19310883	12	16533											
TP53	7157	hgsc.bcm.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	306	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-25-1633-01A-01W-0615-10		7578406	73616804	13	16534											
SASH3	54440	hgsc.bcm.edu	37	X	128921963	128921963	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1633-01A-01W-0615-10	TCGA-25-1633-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	e35eba1d-d143-4846-a0ac-a60b1f7acb96	37f789bc-e748-41b7-9edc-ddc9df67035a	g.chrX:128921963C>A	ENST00000356892.3	+	2	184	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	24					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R24S(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CTCCCTTCAGCGCTCCAGCAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											125	117	119					X																	128921963		2203	4300	6503	128749644	SO:0001583	missense	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.70C>A	X.37:g.128921963C>A	ENSP00000349359:p.Arg24Ser		128749644	A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007456	0.54361	.	.	ENSG00000122122	ENST00000356892	T	0.62232	0.04	5.16	4.27	0.50696	.	0.053879	0.64402	D	0.000001	T	0.75228	0.3821	M	0.62723	1.935	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.78224	-0.2287	10	0.87932	D	0	-22.9389	13.0993	0.59210	0.1606:0.8394:0.0:0.0	.	24	O75995	SASH3_HUMAN	S	24	ENSP00000349359:R24S	ENSP00000349359:R24S	R	+	1	0	SASH3	128749644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.099000	0.41767	2.143000	0.66587	0.600000	0.82982	CGC		0.552	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		A	128921963	C	A	128921963	3	1	306	1	0	0	0	0	1	0	0	0	13852	768	27	3	76	3	SASH3	23	128921963	Missense_Mutation	SNP	C	TCGA-25-1633-01A-01W-0615-10		128921963	26348597	14	16535											
GBP5	115362	hgsc.bcm.edu	37	1	89730613	89730613	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr1:89730613A>T	ENST00000370459.3	-	7	1032	c.905T>A	c.(904-906)aTc>aAc	p.I302N	GBP5_ENST00000343435.5_Missense_Mutation_p.I302N|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	302	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.I302N(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCCACTGCTGATGGCATTGAC	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											92	82	85					1																	89730613		2203	4300	6503	89503201	SO:0001583	missense	115362			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.905T>A	1.37:g.89730613A>T	ENSP00000359488:p.Ile302Asn		89503201	B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	CCDS722.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945332	0.53079	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.05447	3.44;3.44;3.44	4.96	4.96	0.65561	Guanylate-binding protein, C-terminal (3);	0.052522	0.64402	D	0.000001	T	0.23014	0.0556	M	0.90977	3.165	0.38353	D	0.944394	D	0.89917	1.0	D	0.97110	1.0	T	0.10405	-1.0631	10	0.87932	D	0	-20.5671	12.9668	0.58488	1.0:0.0:0.0:0.0	.	302	Q96PP8	GBP5_HUMAN	N	302	ENSP00000340396:I302N;ENSP00000359488:I302N;ENSP00000403010:I302N	ENSP00000340396:I302N	I	-	2	0	GBP5	89503201	1.000000	0.71417	0.990000	0.47175	0.018000	0.09664	6.397000	0.73239	2.227000	0.72691	0.454000	0.30748	ATC		0.448	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		T	89730613	A	T	89730613	3	4	307	1	0	0	0	0	1	0	0	0	6277	333	12	5	875	5	GBP5	1	89730613	Missense_Mutation	SNP	A	TCGA-25-1634-01A-01W-0615-10		89730613	159520008	1	16536											
NBPF14	25832	hgsc.bcm.edu	37	1	148009509	148009509	+	Missense_Mutation	SNP	C	C	T	rs143363070	byFrequency	TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr1:148009509C>T	ENST00000369219.1	-	16	1814	c.1798G>A	c.(1798-1800)Ggg>Agg	p.G600R				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	600	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.G600R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AACAGCTCCCCGCTGAGCCTG	0.463													-|||	151	0.0301518	0.0938	0.013	5008	,	,		57917	0.003		0.007	False		,,,				2504	0.0082															1	Substitution - Missense(1)	ovary(1)	1																																								146476133	SO:0001583	missense	25832			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1798G>A	1.37:g.148009509C>T	ENSP00000358221:p.Gly600Arg		146476133	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	N	0.003	-2.577581	0.00131	.	.	ENSG00000122497	ENST00000369219;ENST00000434489	T	0.04156	3.69	.	.	.	DUF1220 (2);	.	.	.	.	T	0.00300	0.0009	N	0.00339	-1.615	0.09310	N	1	.	.	.	.	.	.	T	0.44097	-0.9350	4	0.02654	T	1	.	.	.	.	.	600	Q5TI25	NBPFE_HUMAN	R	600;190	ENSP00000358221:G600R	ENSP00000358221:G600R	G	-	1	0	NBPF14	146476133	0.988000	0.35896	.	.	.	.	-1.256000	0.02869	.	.	.	.	GGG		0.463	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		T	148009509	C	T	148009509	3	4	307	1	0	0	0	0	1	0	0	0	10194	652	23	1	995	1	NBPF14	1	148009509	Missense_Mutation	SNP	C	TCGA-25-1634-01A-01W-0615-10	58278896	148009509	101241112	2	16537											
NUF2	83540	hgsc.bcm.edu	37	1	163310216	163310216	+	Splice_Site	SNP	G	G	C			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr1:163310216G>C	ENST00000271452.3	+	9	948	c.669G>C	c.(667-669)ttG>ttC	p.L223F	NUF2_ENST00000524800.1_Splice_Site_p.L223F|NUF2_ENST00000367900.3_Splice_Site_p.L223F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	223	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.L223F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CCAAGCGTTTGGTAAACATCT	0.333																																																1	Substitution - Missense(1)	ovary(1)	1											96	104	101					1																	163310216		2202	4300	6502	161576840	SO:0001630	splice_region_variant	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.669+1G>C	1.37:g.163310216G>C			161576840	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397825	0.25205	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.37235	1.21;1.21;1.21	4.77	2.87	0.33458	.	0.073983	0.56097	D	0.000028	T	0.30510	0.0767	L	0.55481	1.735	.	.	.	D;D	0.69078	0.997;0.997	P;P	0.59643	0.861;0.861	T	0.20739	-1.0266	9	0.62326	D	0.03	-2.1981	5.8041	0.18430	0.0984:0.0:0.71:0.1917	.	223;223	E9PQC4;Q9BZD4	.;NUF2_HUMAN	F	223	ENSP00000436888:L223F;ENSP00000356875:L223F;ENSP00000271452:L223F	ENSP00000271452:L223F	L	+	3	2	NUF2	161576840	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	1.794000	0.38774	0.704000	0.31869	0.655000	0.94253	TTG		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	Missense_Mutation	C	163310216	G	C	163310216	5	2	307	1	0	0	0	0	0	0	1	0	10747	1362	47	3	699	3	NUF2	1	163310216	Splice_Site	SNP	G	TCGA-25-1634-01A-01W-0615-10	15300707	163310216	85940405	3	16538											
RPS6KC1	26750	hgsc.bcm.edu	37	1	213403885	213403885	+	Nonsense_Mutation	SNP	A	A	T			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr1:213403885A>T	ENST00000366960.3	+	9	1240	c.1090A>T	c.(1090-1092)Aaa>Taa	p.K364*	RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.K152*|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.K352*|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.K67*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	364	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.K364*(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTTCATTTTAAAAGTAAGTAA	0.378																																																1	Substitution - Nonsense(1)	ovary(1)	1											52	55	54					1																	213403885		2202	4299	6501	211470508	SO:0001587	stop_gained	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1090A>T	1.37:g.213403885A>T	ENSP00000355927:p.Lys364*		211470508	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Nonsense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	39	7.467476	0.98302	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.9574	15.5705	0.76330	1.0:0.0:0.0:0.0	.	.	.	.	X	152;364;352;67	.	ENSP00000355926:K352X	K	+	1	0	RPS6KC1	211470508	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.960000	0.87893	2.141000	0.66446	0.459000	0.35465	AAA		0.378	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		T	213403885	A	T	213403885	4	4	307	1	0	0	0	0	0	1	0	0	13661	15	1	5	1124	5	RPS6KC1	1	213403885	Nonsense_Mutation	SNP	A	TCGA-25-1634-01A-01W-0615-10	50093669	213403885	35846736	4	16539											
RBKS	64080	hgsc.bcm.edu	37	2	28050539	28050539	+	Silent	SNP	C	C	T			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr2:28050539C>T	ENST00000302188.3	-	7	1442	c.690G>A	c.(688-690)caG>caA	p.Q230Q	RBKS_ENST00000444339.2_Silent_p.Q230Q	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	230					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)	p.Q230Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TGATTACCACCTGGCAGCCCC	0.512																																																1	Substitution - coding silent(1)	ovary(1)	2											102	93	96					2																	28050539		2203	4300	6503	27904043	SO:0001819	synonymous_variant	64080			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.690G>A	2.37:g.28050539C>T			27904043	A9UK04|B4DV96	Silent	SNP	ENST00000302188.3	37	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	C	7.117	0.577102	0.13686	.	.	ENSG00000171174	ENST00000458185	.	.	.	5.63	1.03	0.20045	.	.	.	.	.	T	0.25306	0.0615	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24190	-1.0167	4	.	.	.	1.1854	5.303	0.15788	0.2443:0.5495:0.1197:0.0866	.	.	.	.	S	91	.	.	G	-	1	0	RBKS	27904043	0.071000	0.21146	0.559000	0.28332	0.981000	0.71138	-0.157000	0.10085	0.267000	0.21916	0.491000	0.48974	GGT		0.512	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		T	28050539	C	T	28050539	2	4	307	1	0	0	0	0	0	0	0	1	13111	680	24	2		2	RBKS	2	28050539	Silent	SNP	C	TCGA-25-1634-01A-01W-0615-10		28050539	215148834	5	16540											
CHRND	1144	hgsc.bcm.edu	37	2	233394757	233394757	+	Missense_Mutation	SNP	G	G	A	rs148869069	byFrequency	TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr2:233394757G>A	ENST00000258385.3	+	7	760	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CHRND_ENST00000543200.1_Missense_Mutation_p.R228H|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Silent_p.P206P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	243					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.R243H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CTCATCATCCGCCGCAAGCCC	0.607																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	2						G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	174	143	154		728	5.2	1	2	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CHRND	NM_000751.1	29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	243/518	233394757	4,13002	2203	4300	6503	233103001	SO:0001583	missense	1144			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.728G>A	2.37:g.233394757G>A	ENSP00000258385:p.Arg243His		233103001	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393946	0.83011	6.81E-4	1.16E-4	ENSG00000135902	ENST00000543200;ENST00000258385	T;T	0.80738	-1.41;-1.41	5.18	5.18	0.71444	Neurotransmitter-gated ion-channel ligand-binding (3);	0.418674	0.24967	N	0.034174	D	0.88258	0.6388	M	0.86343	2.81	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.994	D;D;D	0.64144	0.918;0.922;0.922	D	0.88969	0.3399	10	0.87932	D	0	.	7.0628	0.25135	0.212:0.0:0.788:0.0	.	228;243;243	B4DT92;A8K661;Q07001	.;.;ACHD_HUMAN	H	228;243	ENSP00000438380:R228H;ENSP00000258385:R243H	ENSP00000258385:R243H	R	+	2	0	CHRND	233103001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.558000	0.60789	2.605000	0.88082	0.655000	0.94253	CGC		0.607	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			A	233394757	G	A	233394757	3	1	307	1	0	0	0	0	1	0	0	0	3394	1087	38	1	754	1	CHRND	2	233394757	Missense_Mutation	SNP	G	TCGA-25-1634-01A-01W-0615-10	205344218	233394757	9804616	6	16541											
DHX30	22907	hgsc.bcm.edu	37	3	47888228	47888228	+	Missense_Mutation	SNP	G	G	A	rs36045705	byFrequency	TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr3:47888228G>A	ENST00000445061.1	+	11	2073	c.1666G>A	c.(1666-1668)Gtc>Atc	p.V556I	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.V584I|DHX30_ENST00000446256.2_Missense_Mutation_p.V517I|DHX30_ENST00000348968.4_Missense_Mutation_p.V528I	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	556	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.V556I(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGTGAGCCACGTCATCGTGGA	0.637																																																1	Substitution - Missense(1)	ovary(1)	3						G	ILE/VAL,ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	57	48	51		1549,1666	4.8	0.6	3	dbSNP_126	51	0,8600		0,0,4300	yes	missense,missense	DHX30	NM_014966.3,NM_138615.2	29,29	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	benign,benign	517/1156,556/1195	47888228	8,12998	2203	4300	6503	47863232	SO:0001583	missense	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1666G>A	3.37:g.47888228G>A	ENSP00000405620:p.Val556Ile		47863232	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177478	0.57692	0.001816	0.0	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	4.81	4.81	0.61882	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.065701	0.64402	D	0.000011	T	0.04092	0.0114	N	0.11313	0.125	0.53688	D	0.999974	P;B	0.43788	0.817;0.174	B;B	0.40228	0.323;0.134	T	0.52555	-0.8560	10	0.46703	T	0.11	.	10.511	0.44862	0.0889:0.0:0.9111:0.0	rs36045705	556;517	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	I	517;556;528;584	ENSP00000392601:V517I;ENSP00000405620:V556I;ENSP00000343442:V528I;ENSP00000394682:V584I	ENSP00000343442:V528I	V	+	1	0	DHX30	47863232	1.000000	0.71417	0.615000	0.29064	0.861000	0.49209	5.445000	0.66594	2.219000	0.72066	0.462000	0.41574	GTC		0.637	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		A	47888228	G	A	47888228	3	1	307	1	0	0	0	0	1	0	0	0	4504	1145	40	1	1711	1	DHX30	3	47888228	Missense_Mutation	SNP	G	TCGA-25-1634-01A-01W-0615-10		47888228	150134202	7	16542											
ATP13A4	84239	hgsc.bcm.edu	37	3	193125105	193125105	+	Silent	SNP	G	G	T			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr3:193125105G>T	ENST00000342695.4	-	29	3697	c.3375C>A	c.(3373-3375)gcC>gcA	p.A1125A	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Silent_p.A141A|ATP13A4_ENST00000392443.3_Silent_p.A1106A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1125						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.A1125A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACTTACCTCGGCCACAAGGG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	3											139	103	115					3																	193125105		2203	4300	6503	194607799	SO:0001819	synonymous_variant	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3375C>A	3.37:g.193125105G>T			194607799	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	CCDS3304.2																																																																																				0.522	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		T	193125105	G	T	193125105	2	4	307	1	0	0	0	0	0	0	0	1	1126	1103	39	3		3	ATP13A4	3	193125105	Silent	SNP	G	TCGA-25-1634-01A-01W-0615-10	145236877	193125105	4897325	8	16543											
ART3	419	hgsc.bcm.edu	37	4	77003060	77003060	+	Silent	SNP	C	C	T			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr4:77003060C>T	ENST00000355810.4	+	3	272	c.153C>T	c.(151-153)taC>taT	p.Y51Y	ART3_ENST00000349321.3_Silent_p.Y51Y|ART3_ENST00000341029.5_Silent_p.Y51Y|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	51					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Y51Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAATTAAATACGTTCCCCAAC	0.413																																																1	Substitution - coding silent(1)	ovary(1)	4											116	116	116					4																	77003060		2203	4300	6503	77222084	SO:0001819	synonymous_variant	419			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.153C>T	4.37:g.77003060C>T			77222084	Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	ENST00000355810.4	37	CCDS47079.1																																																																																				0.413	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		T	77003060	C	T	77003060	2	4	307	1	0	0	0	0	0	0	0	1	998	547	19	1		1	ART3	4	77003060	Silent	SNP	C	TCGA-25-1634-01A-01W-0615-10		77003060	114151216	9	16544											
WDFY3	23001	hgsc.bcm.edu	37	4	85717847	85717847	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr4:85717847T>A	ENST00000295888.4	-	19	3401	c.2994A>T	c.(2992-2994)gaA>gaT	p.E998D	WDFY3_ENST00000322366.6_Missense_Mutation_p.E998D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	998					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.E998D(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATGGTTATCTTCATGTAAGC	0.438																																																1	Substitution - Missense(1)	ovary(1)	4											128	123	125					4																	85717847		2203	4300	6503	85936871	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2994A>T	4.37:g.85717847T>A	ENSP00000295888:p.Glu998Asp		85936871	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844468	0.51164	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64438	-0.1;-0.09	5.63	5.63	0.86233	.	0.044471	0.85682	D	0.000000	T	0.41119	0.1145	N	0.08118	0	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.30592	-0.9973	10	0.30854	T	0.27	.	11.9902	0.53171	0.0:0.0695:0.0:0.9305	.	998	Q8IZQ1	WDFY3_HUMAN	D	998	ENSP00000318466:E998D;ENSP00000295888:E998D	ENSP00000295888:E998D	E	-	3	2	WDFY3	85936871	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.281000	0.43452	2.268000	0.75426	0.455000	0.32223	GAA		0.438	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85717847	T	A	85717847	3	1	307	1	0	0	0	0	1	0	0	0	17270	1606	56	5	7786	5	WDFY3	4	85717847	Missense_Mutation	SNP	T	TCGA-25-1634-01A-01W-0615-10	8714787	85717847	105436429	10	16545											
SCLT1	132320	hgsc.bcm.edu	37	4	129960215	129960215	+	Missense_Mutation	SNP	C	C	G	rs370155503		TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr4:129960215C>G	ENST00000281142.5	-	5	774	c.271G>C	c.(271-273)Gtc>Ctc	p.V91L	SCLT1_ENST00000439369.2_Missense_Mutation_p.V91L|SCLT1_ENST00000506368.1_Missense_Mutation_p.V91L|SCLT1_ENST00000434680.1_Missense_Mutation_p.V91L|SCLT1_ENST00000503215.1_Missense_Mutation_p.V68L	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	91					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.V91L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCCTTGATGACATTTTCAAGT	0.284																																																1	Substitution - Missense(1)	ovary(1)	4											55	53	53					4																	129960215		2199	4297	6496	130179665	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.271G>C	4.37:g.129960215C>G	ENSP00000281142:p.Val91Leu		130179665	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748637	0.69533	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215;ENST00000506368	T;T;T	0.09911	2.93;2.93;2.93	4.83	3.97	0.46021	.	0.129487	0.50627	D	0.000115	T	0.15219	0.0367	L	0.34521	1.04	0.41655	D	0.989157	P;P;D;P	0.56521	0.732;0.851;0.976;0.732	B;P;P;B	0.56398	0.26;0.546;0.797;0.26	T	0.01242	-1.1408	9	.	.	.	-7.3179	10.7144	0.46005	0.0:0.9074:0.0:0.0926	.	91;91;91;91	Q96NL6-3;D6RBA6;Q96NL6-2;Q96NL6	.;.;.;SCLT1_HUMAN	L	91;91;91;68;91	ENSP00000281142:V91L;ENSP00000401539:V91L;ENSP00000424029:V68L	.	V	-	1	0	SCLT1	130179665	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.928000	0.28831	2.498000	0.84270	0.655000	0.94253	GTC		0.284	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		G	129960215	C	G	129960215	3	3	307	1	0	0	0	0	1	0	0	0	13909	478	17	3	1863	3	SCLT1	4	129960215	Missense_Mutation	SNP	C	TCGA-25-1634-01A-01W-0615-10	44242368	129960215	61194061	11	16546											
GPRC6A	222545	hgsc.bcm.edu	37	6	117130582	117130582	+	Silent	SNP	A	A	G			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr6:117130582A>G	ENST00000310357.3	-	2	414	c.393T>C	c.(391-393)tgT>tgC	p.C131C	GPRC6A_ENST00000368549.3_Silent_p.C131C|GPRC6A_ENST00000530250.1_Silent_p.C131C	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	131					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C131C(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGGAATAGTCACACTTAAACT	0.428																																																1	Substitution - coding silent(1)	ovary(1)	6											100	94	96					6																	117130582		2203	4300	6503	117237275	SO:0001819	synonymous_variant	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.393T>C	6.37:g.117130582A>G			117237275	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	CCDS5112.1																																																																																				0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			G	117130582	A	G	117130582	2	3	307	1	0	0	0	0	0	0	0	1	6728	157	6	4		4	GPRC6A	6	117130582	Silent	SNP	A	TCGA-25-1634-01A-01W-0615-10		117130582	53984485	12	16547											
MCM4	4173	hgsc.bcm.edu	37	8	48882466	48882466	+	Missense_Mutation	SNP	G	G	A	rs376187463		TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr8:48882466G>A	ENST00000262105.2	+	10	1492	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.R428H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	428					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.R428H(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GATGCAAAACGTCTGCATGGC	0.418																																																1	Substitution - Missense(1)	ovary(1)	8						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	164	152	156		1283,1283	4.4	1	8		156	0,8600		0,0,4300	no	missense,missense	MCM4	NM_005914.3,NM_182746.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	428/864,428/864	48882466	1,13005	2203	4300	6503	49045019	SO:0001583	missense	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1283G>A	8.37:g.48882466G>A	ENSP00000262105:p.Arg428His		49045019	Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815788	0.70912	2.27E-4	0.0	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.09350	3.95;3.95;2.99	6.17	4.38	0.52667	.	0.044223	0.85682	D	0.000000	T	0.34513	0.0900	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.28202	-1.0051	10	0.87932	D	0	-16.7133	13.5326	0.61631	0.1275:0.0:0.8725:0.0	.	428;428	B3KMX0;P33991	.;MCM4_HUMAN	H	428;428;415;388;146	ENSP00000430194:R428H;ENSP00000262105:R428H;ENSP00000427875:R146H	ENSP00000262105:R428H	R	+	2	0	MCM4	49045019	1.000000	0.71417	0.986000	0.45419	0.944000	0.59088	7.554000	0.82212	1.636000	0.50526	0.655000	0.94253	CGT		0.418	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		A	48882466	G	A	48882466	3	1	307	1	0	0	0	0	1	0	0	0	9389	1145	40	1	1321	1	MCM4	8	48882466	Missense_Mutation	SNP	G	TCGA-25-1634-01A-01W-0615-10		48882466	97481556	13	16548											
COPS5	10987	hgsc.bcm.edu	37	8	67974106	67974106	+	Silent	SNP	C	C	A			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr8:67974106C>A	ENST00000357849.4	-	1	446	c.126G>T	c.(124-126)gcG>gcT	p.A42A	CSPP1_ENST00000262210.5_5'Flank|AC109335.1_ENST00000578628.1_RNA|COPS5_ENST00000517736.1_Intron|COPS5_ENST00000519963.1_5'UTR|CSPP1_ENST00000412460.1_5'Flank	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	42					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)	p.A42A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCAGGGCTTCGCCGCCAGGA	0.552																																																1	Substitution - coding silent(1)	ovary(1)	8											147	137	140					8																	67974106		2203	4300	6503	68136660	SO:0001819	synonymous_variant	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.126G>T	8.37:g.67974106C>A			68136660	O15386|Q6AW95|Q86WQ4|Q9BQ17	Silent	SNP	ENST00000357849.4	37	CCDS6198.1																																																																																				0.552	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			A	67974106	C	A	67974106	2	1	307	1	0	0	0	0	0	0	0	1	3736	871	31	3		3	COPS5	8	67974106	Silent	SNP	C	TCGA-25-1634-01A-01W-0615-10	19091640	67974106	78389916	14	16549											
EIF3E	3646	hgsc.bcm.edu	37	8	109215225	109215225	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr8:109215225T>A	ENST00000220849.5	-	12	1348	c.1286A>T	c.(1285-1287)aAt>aTt	p.N429I	EIF3E_ENST00000519517.1_5'Flank|EIF3E_ENST00000519030.1_Missense_Mutation_p.N336I	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.N429fs*>17(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TGACCTGCTATTCTGATTAAG	0.383																																					GBM(15;360 410 8460 34179 52246)											1	Deletion - Frameshift(1)	ovary(1)	8											161	145	150					8																	109215225		2203	4300	6503	109284401	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1286A>T	8.37:g.109215225T>A	ENSP00000220849:p.Asn429Ile		109284401		Missense_Mutation	SNP	ENST00000220849.5	37	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.69|14.69	2.609674|2.609674	0.46527|0.46527	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000522352|ENST00000220849;ENST00000519030	.|T;T	.|0.44482	.|0.92;0.92	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.081700	.|0.85682	.|D	.|0.000000	T|T	0.30759|0.30759	0.0775|0.0775	L|L	0.29908|0.29908	0.895|0.895	0.40715|0.40715	D|D	0.982605|0.982605	.|B	.|0.09022	.|0.002	.|B	.|0.12156	.|0.007	T|T	0.15607|0.15607	-1.0431|-1.0431	5|10	.|0.59425	.|D	.|0.04	-26.1247|-26.1247	8.5468|8.5468	0.33426|0.33426	0.0:0.1139:0.0:0.8861|0.0:0.1139:0.0:0.8861	.|.	.|429	.|P60228	.|EIF3E_HUMAN	D|I	139|429;336	.|ENSP00000220849:N429I;ENSP00000428796:N336I	.|ENSP00000220849:N429I	E|N	-|-	3|2	2|0	EIF3E|EIF3E	109284401|109284401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.784000|3.784000	0.55416|0.55416	2.178000|2.178000	0.69098|0.69098	0.477000|0.477000	0.44152|0.44152	GAA|AAT		0.383	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		A	109215225	T	A	109215225	3	1	307	1	0	0	0	0	1	0	0	0	5015	1493	52	5	59	5	EIF3E	8	109215225	Missense_Mutation	SNP	T	TCGA-25-1634-01A-01W-0615-10	41241119	109215225	37148797	15	16550											
GSN	2934	hgsc.bcm.edu	37	9	124094799	124094799	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr9:124094799T>C	ENST00000373818.4	+	17	2336	c.2267T>C	c.(2266-2268)tTt>tCt	p.F756S	GSN_ENST00000341272.2_Missense_Mutation_p.F705S|GSN_ENST00000545652.1_Missense_Mutation_p.F713S|GSN_ENST00000449733.1_Missense_Mutation_p.F705S|GSN_ENST00000373823.3_Missense_Mutation_p.F705S|GSN_ENST00000373806.1_Missense_Mutation_p.F181S|GSN_ENST00000436847.1_Missense_Mutation_p.F716S|GSN_ENST00000412819.1_Missense_Mutation_p.F705S|GSN_ENST00000394353.2_Missense_Mutation_p.F716S|GSN_ENST00000373808.2_Missense_Mutation_p.F705S	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	756	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)	p.F705S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CCTCCCTCCTTTGTGGGCTGG	0.627											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	9											155	129	138					9																	124094799		2203	4300	6503	123134620	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2267T>C	9.37:g.124094799T>C	ENSP00000362924:p.Phe756Ser	1531	123134620	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.747856	0.89663	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	6.07	6.07	0.98685	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	H	0.98155	4.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.91713	0.5383	10	0.87932	D	0	-17.5025	15.8218	0.78654	0.0:0.0:0.0:1.0	.	729;713;716;756	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	S	705;716;716;705;705;705;705;689;679;713;756;181;162	ENSP00000362929:F705S;ENSP00000411293:F716S;ENSP00000377882:F716S;ENSP00000409358:F705S;ENSP00000416586:F705S;ENSP00000340888:F705S;ENSP00000362914:F705S;ENSP00000445823:F713S;ENSP00000362924:F756S;ENSP00000362912:F181S	ENSP00000340888:F705S	F	+	2	0	GSN	123134620	1.000000	0.71417	0.846000	0.33378	0.685000	0.39939	7.559000	0.82265	2.326000	0.78906	0.533000	0.62120	TTT		0.627	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		C	124094799	T	C	124094799	3	2	307	1	0	0	0	0	1	0	0	0	6825	1841	64	4	2361	4	GSN	9	124094799	Missense_Mutation	SNP	T	TCGA-25-1634-01A-01W-0615-10		124094799	17118632	16	16551											
CIZ1	25792	hgsc.bcm.edu	37	9	130942745	130942745	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr9:130942745G>C	ENST00000393608.1	-	7	942	c.740C>G	c.(739-741)cCt>cGt	p.P247R	CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000538431.1_Missense_Mutation_p.P247R|CIZ1_ENST00000372938.5_Missense_Mutation_p.P247R|CIZ1_ENST00000357558.5_Missense_Mutation_p.P247R|CIZ1_ENST00000277465.4_Missense_Mutation_p.P247R|CIZ1_ENST00000325721.8_Missense_Mutation_p.P218R|CIZ1_ENST00000372948.3_Missense_Mutation_p.P247R|CIZ1_ENST00000372954.1_Missense_Mutation_p.P223R|CIZ1_ENST00000541172.1_Missense_Mutation_p.P146R	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	247					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P247R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTCAGGCTCAGGTGCTGGAGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	9											242	204	217					9																	130942745		2203	4300	6503	129982566	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.740C>G	9.37:g.130942745G>C	ENSP00000377232:p.Pro247Arg		129982566	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202560	0.38905	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544	T;T;T;T;T;T;T;T;T;T;T	0.69306	1.12;1.27;1.26;1.43;1.29;0.81;1.43;1.1;1.27;1.88;-0.39	4.21	2.37	0.29283	.	0.162750	0.29715	N	0.011397	T	0.66557	0.2801	L	0.34521	1.04	0.09310	N	1	P;D;P;D;D;D;D;D	0.76494	0.917;0.997;0.95;0.999;0.997;0.993;0.971;0.997	P;D;P;D;D;P;P;D	0.69479	0.548;0.921;0.735;0.964;0.95;0.878;0.839;0.921	T	0.53739	-0.8396	10	0.40728	T	0.16	-0.9801	6.1225	0.20161	0.309:0.0:0.691:0.0	.	247;242;247;247;223;247;218;247	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	R	223;247;247;247;218;214;146;247;223;247;247;169;247	ENSP00000362045:P223R;ENSP00000377232:P247R;ENSP00000439244:P247R;ENSP00000350169:P247R;ENSP00000320374:P218R;ENSP00000445057:P146R;ENSP00000277465:P247R;ENSP00000362039:P247R;ENSP00000362029:P247R;ENSP00000398011:P169R;ENSP00000321780:P247R	ENSP00000277465:P247R	P	-	2	0	CIZ1	129982566	0.034000	0.19679	0.117000	0.21633	0.065000	0.16274	1.219000	0.32479	0.719000	0.32188	0.655000	0.94253	CCT		0.577	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		C	130942745	G	C	130942745	3	2	307	1	0	0	0	0	1	0	0	0	3441	1000	35	3	2000	3	CIZ1	9	130942745	Missense_Mutation	SNP	G	TCGA-25-1634-01A-01W-0615-10	6847946	130942745	10270686	17	16552											
COMMD3	23412	hgsc.bcm.edu	37	10	22605357	22605357	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr10:22605357C>T	ENST00000376836.3	+	1	455	c.11C>T	c.(10-12)tCg>tTg	p.S4L	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.S4L	NM_012071.3	NP_036203.1	Q9UBI1	COMD3_HUMAN	COMM domain containing 3	4								p.S4L(1)		kidney(2)|lung(2)|ovary(1)	5						ATGGAGCTCTCGGAGTCTGTG	0.677																																																1	Substitution - Missense(1)	ovary(1)	10											55	35	42					10																	22605357		2100	4142	6242	22645363	SO:0001583	missense	23412			AY542159	CCDS7137.1	10p12.2	2012-09-20	2004-02-13	2004-02-18	ENSG00000148444	ENSG00000148444			23332	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 8"	C10orf8		11042152, 15799966	Standard	NM_012071		Approved	BUP		Q9UBI1	OTTHUMG00000017806	ENST00000376836.3:c.11C>T	10.37:g.22605357C>T	ENSP00000366032:p.Ser4Leu		22645363	D3DRU7|Q5T8Y9	Missense_Mutation	SNP	ENST00000376836.3	37	CCDS7137.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246191	0.80024	.	.	ENSG00000148444	ENST00000376836;ENST00000376776;ENST00000376787	T	0.52057	0.68	4.78	3.87	0.44632	.	0.000000	0.64402	D	0.000001	T	0.65015	0.2651	M	0.73217	2.22	0.51767	D	0.999936	B;D	0.69078	0.086;0.997	B;D	0.70227	0.014;0.968	T	0.69300	-0.5181	10	0.87932	D	0	-11.2238	12.3524	0.55155	0.0:0.9161:0.0:0.0839	.	4;4	Q9UBI1;E9PC68	COMD3_HUMAN;.	L	4	ENSP00000366032:S4L	ENSP00000365968:S4L	S	+	2	0	COMMD3	22645363	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.390000	0.73204	1.382000	0.46385	-0.140000	0.14226	TCG		0.677	COMMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047159.1	NM_012071		T	22605357	C	T	22605357	3	4	307	1	0	0	0	0	1	0	0	0	3717	893	31	1	13	1	COMMD3	10	22605357	Missense_Mutation	SNP	C	TCGA-25-1634-01A-01W-0615-10		22605357	112929390	18	16553											
GDPD5	81544	hgsc.bcm.edu	37	11	75188687	75188687	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr11:75188687G>A	ENST00000336898.3	-	3	931	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	GDPD5_ENST00000376282.3_Missense_Mutation_p.R32C|GDPD5_ENST00000533784.1_Missense_Mutation_p.R32C|GDPD5_ENST00000529721.1_Missense_Mutation_p.R32C|GDPD5_ENST00000443276.2_Missense_Mutation_p.R32C	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	32					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)	p.R32C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TCATGGGAGCGCTGGTAGCGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	11											46	41	43					11																	75188687		2200	4293	6493	74866335	SO:0001583	missense	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.94C>T	11.37:g.75188687G>A	ENSP00000337972:p.Arg32Cys		74866335	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129490	0.77549	.	.	ENSG00000158555	ENST00000533784;ENST00000529721;ENST00000336898;ENST00000376282;ENST00000443276;ENST00000532435	T;T;T;T;T	0.34859	2.07;1.34;1.34;2.07;1.34	4.88	2.83	0.33086	.	0.124090	0.53938	D	0.000055	T	0.56062	0.1960	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.87578	0.998;0.84	T	0.60606	-0.7230	10	0.87932	D	0	-24.3836	11.467	0.50246	0.0:0.0:0.6762:0.3238	.	32;32	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	C	32	ENSP00000437049:R32C;ENSP00000433214:R32C;ENSP00000337972:R32C;ENSP00000365459:R32C;ENSP00000396535:R32C	ENSP00000337972:R32C	R	-	1	0	GDPD5	74866335	1.000000	0.71417	0.959000	0.39883	0.982000	0.71751	6.176000	0.71955	1.155000	0.42497	0.655000	0.94253	CGC		0.637	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		A	75188687	G	A	75188687	3	1	307	1	0	0	0	0	1	0	0	0	6327	1087	38	1	1783	1	GDPD5	11	75188687	Missense_Mutation	SNP	G	TCGA-25-1634-01A-01W-0615-10		75188687	59817829	19	16554											
TBX3	6926	hgsc.bcm.edu	37	12	115115428	115115428	+	Frame_Shift_Del	DEL	C	C	-			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr12:115115428delC	ENST00000257566.3	-	5	1287	c.898delG	c.(898-900)gcafs	p.A300fs	TBX3_ENST00000349155.2_Frame_Shift_Del_p.A280fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	300					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A300fs*23(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AAACCTTTTGCAAAAGGGTTG	0.353																																																1	Deletion - Frameshift(1)	ovary(1)	12											90	87	88					12																	115115428		2203	4300	6503	113599811	SO:0001589	frameshift_variant	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.898delG	12.37:g.115115428delC	ENSP00000257566:p.Ala300fs		113599811	Q8TB20|Q9UKF8	Frame_Shift_Del	DEL	ENST00000257566.3	37	CCDS9176.1																																																																																				0.353	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		-	115115428	C	-	115115428	7	5	307	1	0	1	0	1	0	0	0	0	15659	710	25	0	1349	0	TBX3	12	115115428	Frame_Shift_Del	DEL	C	TCGA-25-1634-01A-01W-0615-10		115115428	18736467	20	16555											
RBM25	58517	hgsc.bcm.edu	37	14	73576088	73576088	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr14:73576088A>G	ENST00000261973.7	+	14	1865	c.1580A>G	c.(1579-1581)aAg>aGg	p.K527R	RBM25_ENST00000527432.1_Missense_Mutation_p.K527R|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	527	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K527R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GATAGAGAAAAGGAAATGGAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	14											120	124	123					14																	73576088		2203	4300	6503	72645841	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1580A>G	14.37:g.73576088A>G	ENSP00000261973:p.Lys527Arg		72645841	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449694	0.63290	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.10860	2.83;2.83	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	N	0.17379	0.485	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.16837	-1.0389	10	0.08599	T	0.76	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	527	P49756	RBM25_HUMAN	R	527	ENSP00000261973:K527R;ENSP00000431150:K527R	ENSP00000261973:K527R	K	+	2	0	RBM25	72645841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.141000	0.94612	2.288000	0.76882	0.533000	0.62120	AAG		0.438	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		G	73576088	A	G	73576088	3	3	307	1	0	0	0	0	1	0	0	0	13128	72	3	4	1630	4	RBM25	14	73576088	Missense_Mutation	SNP	A	TCGA-25-1634-01A-01W-0615-10		73576088	33773452	21	16556											
RBL2	5934	hgsc.bcm.edu	37	16	53498216	53498216	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr16:53498216C>G	ENST00000262133.6	+	12	1776	c.1639C>G	c.(1639-1641)Cct>Gct	p.P547A	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.P331A	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	547	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.P547A(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTATAAGCCTCCTGGGAATTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	16											90	94	93					16																	53498216		2198	4300	6498	52055717	SO:0001583	missense	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1639C>G	16.37:g.53498216C>G	ENSP00000262133:p.Pro547Ala		52055717	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450140	0.63290	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.86562	-2.14;-2.14;-2.14	5.86	5.86	0.93980	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.050790	0.85682	D	0.000000	D	0.85881	0.5800	L	0.49455	1.56	0.47621	D	0.999475	B;B;B;B	0.25048	0.046;0.091;0.02;0.117	B;B;B;B	0.32022	0.066;0.139;0.081;0.103	T	0.82116	-0.0616	10	0.44086	T	0.13	-15.6206	16.4446	0.83913	0.0:0.8689:0.1311:0.0	.	331;547;257;547	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	A	547;473;257;331	ENSP00000262133:P547A;ENSP00000443744:P473A;ENSP00000444685:P331A	ENSP00000262133:P547A	P	+	1	0	RBL2	52055717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.855000	0.69510	2.776000	0.95493	0.650000	0.86243	CCT		0.338	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		G	53498216	C	G	53498216	3	3	307	1	0	0	0	0	1	0	0	0	13113	855	30	3	1685	3	RBL2	16	53498216	Missense_Mutation	SNP	C	TCGA-25-1634-01A-01W-0615-10		53498216	36856537	22	16557											
ZNF286A	57335	hgsc.bcm.edu	37	17	15611544	15611544	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr17:15611544C>T	ENST00000464847.2	+	4	870	c.317C>T	c.(316-318)cCc>cTc	p.P106L	ZNF286A_ENST00000593105.1_Missense_Mutation_p.P96L|ZNF286A_ENST00000580259.1_3'UTR|ZNF286A_ENST00000395894.2_Missense_Mutation_p.P106L|ZNF286A_ENST00000421016.1_Missense_Mutation_p.P106L|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000413242.2_Missense_Mutation_p.P106L|ZNF286A_ENST00000395893.2_Missense_Mutation_p.P106L|ZNF286A_ENST00000585194.1_Missense_Mutation_p.P106L|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.P106L|ZNF286A_ENST00000472486.1_Missense_Mutation_p.P96L			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	106	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.P106L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AGAAAAGCCCCCAAAAGCAGC	0.403																																																2	Substitution - Missense(2)	ovary(1)|central_nervous_system(1)	17											57	58	57					17																	15611544		2203	4300	6503	15552269	SO:0001583	missense	57335			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.317C>T	17.37:g.15611544C>T	ENSP00000464218:p.Pro106Leu		15552269	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	c	11.26	1.587257	0.28268	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894;ENST00000395893	T;T;T;T	0.08282	3.47;3.11;5.43;5.59	4.85	3.84	0.44239	Krueppel-associated box (1);	30.442900	0.00744	N	0.001035	T	0.06280	0.0162	N	0.10685	0.025	0.09310	N	1	B	0.27498	0.18	B	0.21546	0.035	T	0.31696	-0.9934	10	0.27785	T	0.31	-0.0869	10.6557	0.45673	0.2079:0.7921:0.0:0.0	.	106	Q9HBT8	Z286A_HUMAN	L	106;96;106;106	ENSP00000397163:P106L;ENSP00000408168:P96L;ENSP00000379231:P106L;ENSP00000379230:P106L	ENSP00000435872:P106L	P	+	2	0	ZNF286A	15552269	0.000000	0.05858	0.003000	0.11579	0.188000	0.23474	0.417000	0.21214	1.321000	0.45227	0.563000	0.77884	CCC		0.403	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		T	15611544	C	T	15611544	3	4	307	1	0	0	0	0	1	0	0	0	17823	623	22	2	331	2	ZNF286A	17	15611544	Missense_Mutation	SNP	C	TCGA-25-1634-01A-01W-0615-10		15611544	65583666	23	16558											
U2AF2	11338	hgsc.bcm.edu	37	19	56179887	56179887	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr19:56179887G>A	ENST00000308924.4	+	8	797	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	U2AF2_ENST00000590551.1_Missense_Mutation_p.V89M|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.V253M|CTD-2537I9.13_ENST00000592252.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	253					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V253M(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGTGTCCACTGTGGTCCCCGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											118	105	109					19																	56179887		2203	4300	6503	60871699	SO:0001583	missense	11338			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.757G>A	19.37:g.56179887G>A	ENSP00000307863:p.Val253Met		60871699	Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079306	0.55753	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.74842	-0.88;1.26	3.72	3.72	0.42706	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000001	T	0.75635	0.3876	M	0.83384	2.64	0.80722	D	1	B;B	0.29301	0.173;0.241	B;B	0.28385	0.089;0.078	T	0.78254	-0.2275	10	0.46703	T	0.11	-26.2581	14.8266	0.70117	0.0:0.0:1.0:0.0	.	253;253	P26368;P26368-2	U2AF2_HUMAN;.	M	253	ENSP00000307863:V253M;ENSP00000388475:V253M	ENSP00000307863:V253M	V	+	1	0	U2AF2	60871699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.867000	0.92314	2.102000	0.63906	0.655000	0.94253	GTG		0.567	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		A	56179887	G	A	56179887	3	1	307	1	0	0	0	0	1	0	0	0	16823	1377	48	2	787	2	U2AF2	19	56179887	Missense_Mutation	SNP	G	TCGA-25-1634-01A-01W-0615-10		56179887	2949096	24	16559											
L3MBTL	26013	hgsc.bcm.edu	37	20	42168808	42168808	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1634-01A-01W-0615-10	TCGA-25-1634-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d0160665-14ea-4a35-aa77-2ed8e8ed57bd	13deb201-82f8-423c-abd4-c496b6dc342a	g.chr20:42168808G>A	ENST00000427442.2	+	20	2284	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.V641M|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.V709M|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.V646M|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.V641M			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	641	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V641M(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCCCGATGTCGTGCACCAGTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	20											92	66	74					20																	42168808		2203	4300	6503	41602222	SO:0001583	missense	26013			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2125G>A	20.37:g.42168808G>A	ENSP00000402107:p.Val709Met		41602222	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	8.168	0.791089	0.16258	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.23754	2.18;2.18;2.14;2.17;2.11;1.89	5.55	-1.96	0.07525	.	0.779472	0.12225	N	0.487976	T	0.10337	0.0253	N	0.05510	-0.035	0.09310	N	1	B;B;B;B;B	0.22211	0.02;0.045;0.066;0.04;0.013	B;B;B;B;B	0.19946	0.01;0.027;0.014;0.019;0.016	T	0.33292	-0.9874	10	0.23302	T	0.38	.	6.9344	0.24459	0.4785:0.1242:0.3974:0.0	.	709;293;29;641;641	Q9Y468-5;Q9Y468-3;Q6ZWF5;Q9Y468-2;Q9Y468-1	.;.;.;.;.	M	709;709;641;641;646;427;293	ENSP00000402107:V709M;ENSP00000398516:V709M;ENSP00000362227:V641M;ENSP00000403316:V641M;ENSP00000362226:V646M;ENSP00000410139:V427M	ENSP00000362225:V293M	V	+	1	0	L3MBTL1	41602222	0.843000	0.29541	0.020000	0.16555	0.178000	0.23041	1.461000	0.35255	-0.316000	0.08690	-0.150000	0.13652	GTG		0.622	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		A	42168808	G	A	42168808	3	1	307	1	0	0	0	0	1	0	0	0	8591	1145	40	1	1987	1	L3MBTL	20	42168808	Missense_Mutation	SNP	G	TCGA-25-1634-01A-01W-0615-10		42168808	20856712	25	16560											
HMCN1	83872	hgsc.bcm.edu	37	1	186008994	186008994	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr1:186008994T>G	ENST00000271588.4	+	39	6392	c.6163T>G	c.(6163-6165)Ttt>Gtt	p.F2055V	HMCN1_ENST00000367492.2_Missense_Mutation_p.F2055V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2055	Ig-like C2-type 18.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.F2055V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTTCTAGTTTTTCTAATGG	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											118	113	115					1																	186008994		2203	4300	6503	184275617	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6163T>G	1.37:g.186008994T>G	ENSP00000271588:p.Phe2055Val		184275617	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735160	0.48939	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.71698	-0.59;-0.59	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050090	0.85682	D	0.000000	T	0.68348	0.2991	N	0.11364	0.135	0.50632	D	0.99988	D	0.71674	0.998	D	0.79784	0.993	T	0.66256	-0.5969	10	0.17369	T	0.5	.	14.6532	0.68814	0.0:0.0:0.0:1.0	.	2055	Q96RW7	HMCN1_HUMAN	V	2055	ENSP00000271588:F2055V;ENSP00000356462:F2055V	ENSP00000271588:F2055V	F	+	1	0	HMCN1	184275617	1.000000	0.71417	0.084000	0.20598	0.912000	0.54170	3.121000	0.50438	1.995000	0.58328	0.528000	0.53228	TTT		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186008994	T	G	186008994	3	3	308	1	0	0	0	0	1	0	0	0	7220	1841	64	5	6317	5	HMCN1	1	186008994	Missense_Mutation	SNP	T	TCGA-25-1635-01A-01W-0615-10		186008994	63241627	1	16561											
CAD	790	hgsc.bcm.edu	37	2	27457483	27457483	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr2:27457483C>T	ENST00000403525.1	+	22	3671	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	CAD_ENST00000264705.4_Missense_Mutation_p.T1239M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.T1239M(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTTGGCCACGCGGGTCATC	0.527																																																1	Substitution - Missense(1)	ovary(1)	2											139	127	131					2																	27457483		2203	4300	6503	27310987	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3527C>T	2.37:g.27457483C>T	ENSP00000384510:p.Thr1176Met		27310987	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	17.60	3.431094	0.62844	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96992	-4.2;-4.2	5.43	5.43	0.79202	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.043269	0.85682	D	0.000000	D	0.98080	0.9367	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	D	0.98581	1.0650	10	0.87932	D	0	0.3064	14.689	0.69070	0.0:0.854:0.1459:0.0	.	1176;1239	F8VPD4;P27708	.;PYR1_HUMAN	M	1239;1176	ENSP00000264705:T1239M;ENSP00000384510:T1176M	ENSP00000264705:T1239M	T	+	2	0	CAD	27310987	1.000000	0.71417	0.962000	0.40283	0.313000	0.28021	5.618000	0.67722	2.696000	0.92011	0.655000	0.94253	ACG		0.527	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			T	27457483	C	T	27457483	3	4	308	1	0	0	0	0	1	0	0	0	2565	536	19	1	3806	1	CAD	2	27457483	Missense_Mutation	SNP	C	TCGA-25-1635-01A-01W-0615-10		27457483	215741890	2	16562											
ZBTB11	27107	hgsc.bcm.edu	37	3	101370393	101370393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr3:101370393G>A	ENST00000312938.4	-	11	3359	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	927					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R927*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGGAGTGTTCGAGCATCTATG	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	3											117	116	116					3																	101370393		2203	4300	6503	102853083	SO:0001587	stop_gained	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2779C>T	3.37:g.101370393G>A	ENSP00000326200:p.Arg927*		102853083	Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	45	11.302575	0.99544	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.81	3.02	0.34903	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-8.6101	9.7243	0.40322	0.0651:0.0:0.6812:0.2537	.	.	.	.	X	927	.	ENSP00000326200:R927X	R	-	1	2	ZBTB11	102853083	1.000000	0.71417	0.600000	0.28864	0.994000	0.84299	5.285000	0.65633	0.360000	0.24265	0.555000	0.69702	CGA		0.448	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		A	101370393	G	A	101370393	4	1	308	1	0	0	0	0	0	1	0	0	17524	1066	37	1	386	1	ZBTB11	3	101370393	Nonsense_Mutation	SNP	G	TCGA-25-1635-01A-01W-0615-10		101370393	96652037	3	16563											
IGSF10	285313	hgsc.bcm.edu	37	3	151155721	151155721	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr3:151155721C>T	ENST00000282466.3	-	6	6627	c.6628G>A	c.(6628-6630)Gag>Aag	p.E2210K	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2210	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.E2210K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATACGTACTCTCCAGAATCG	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											113	108	110					3																	151155721		2203	4300	6503	152638411	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6628G>A	3.37:g.151155721C>T	ENSP00000282466:p.Glu2210Lys		152638411	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073023	0.55646	.	.	ENSG00000152580	ENST00000282466	T	0.65916	-0.18	5.77	3.94	0.45596	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.276491	0.25394	N	0.030991	T	0.48804	0.1520	N	0.25380	0.74	0.50039	D	0.999845	B;B	0.22480	0.07;0.032	B;B	0.27796	0.083;0.045	T	0.29058	-1.0024	10	0.20046	T	0.44	.	13.1281	0.59366	0.0:0.867:0.0:0.133	.	2210;237	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	K	2210	ENSP00000282466:E2210K	ENSP00000282466:E2210K	E	-	1	0	IGSF10	152638411	0.895000	0.30542	0.799000	0.32177	0.947000	0.59692	1.874000	0.39568	0.742000	0.32697	0.591000	0.81541	GAG		0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151155721	C	T	151155721	3	4	308	1	0	0	0	0	1	0	0	0	7597	922	32	2	1247	2	IGSF10	3	151155721	Missense_Mutation	SNP	C	TCGA-25-1635-01A-01W-0615-10	49785328	151155721	46866709	4	16564											
KIAA1324L	222223	hgsc.bcm.edu	37	7	86542379	86542379	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr7:86542379G>A	ENST00000450689.2	-	14	2058	c.1873C>T	c.(1873-1875)Cac>Tac	p.H625Y	KIAA1324L_ENST00000444627.1_Silent_p.A578A|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.H458Y|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.H385Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	625						integral component of membrane (GO:0016021)		p.H385Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCAATGTAGTGGCCTGGAGGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											158	131	140					7																	86542379		2203	4300	6503	86380315	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1873C>T	7.37:g.86542379G>A	ENSP00000413445:p.His625Tyr		86380315	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.20|15.20	2.764344|2.764344	0.49574|0.49574	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000416314|ENST00000423294	T;T;T|.	0.58506|.	0.33;0.33;0.33|.	5.82|5.82	4.93|4.93	0.64822|0.64822	Growth factor, receptor (1);|.	0.043961|.	0.85682|.	D|.	0.000000|.	T|T	0.69223|0.69223	0.3087|0.3087	L|L	0.56280|0.56280	1.765|1.765	0.80722|0.80722	D|D	1|1	B;P;P|.	0.34724|.	0.065;0.465;0.465|.	B;B;B|.	0.34242|.	0.098;0.178;0.178|.	T|T	0.67688|0.67688	-0.5606|-0.5606	10|5	0.08599|.	T|.	0.76|.	.|.	16.0182|16.0182	0.80460|0.80460	0.0:0.1345:0.8655:0.0|0.0:0.1345:0.8655:0.0	.|.	625;385;458|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	Y|L	625;385;458|585	ENSP00000413445:H625Y;ENSP00000297222:H385Y;ENSP00000402390:H458Y|.	ENSP00000297222:H385Y|.	H|P	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86380315|86380315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.153000|5.153000	0.64888|0.64888	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.547	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		A	86542379	G	A	86542379	3	1	308	1	0	0	0	0	1	0	0	0	8224	1348	47	2	1252	2	KIAA1324L	7	86542379	Missense_Mutation	SNP	G	TCGA-25-1635-01A-01W-0615-10		86542379	72596284	5	16565											
ABCA1	19	hgsc.bcm.edu	37	9	107576738	107576738	+	Missense_Mutation	SNP	C	C	T	rs138056193		TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr9:107576738C>T	ENST00000374736.3	-	26	4151	c.3757G>A	c.(3757-3759)Gaa>Aaa	p.E1253K		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1253					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.E1253K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCACTCTCTTCGGCCACCTTG	0.458													C|||	1	0.000199681	0	0	5008	,	,		20002	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	9						C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	115	91	99		3757	5.3	1	9	dbSNP_134	99	0,8600		0,0,4300	no	missense	ABCA1	NM_005502.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1253/2262	107576738	1,13005	2203	4300	6503	106616559	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3757G>A	9.37:g.107576738C>T	ENSP00000363868:p.Glu1253Lys		106616559	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205685	0.79127	2.27E-4	0.0	ENSG00000165029	ENST00000374736	T	0.75367	-0.93	5.3	5.3	0.74995	.	0.097704	0.64402	D	0.000001	T	0.70474	0.3228	L	0.46614	1.455	0.80722	D	1	B	0.26002	0.139	B	0.23716	0.048	T	0.66999	-0.5781	10	0.40728	T	0.16	.	18.9478	0.92628	0.0:1.0:0.0:0.0	.	1253	O95477	ABCA1_HUMAN	K	1253	ENSP00000363868:E1253K	ENSP00000363868:E1253K	E	-	1	0	ABCA1	106616559	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.360000	0.79487	2.499000	0.84300	0.555000	0.69702	GAA		0.458	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107576738	C	T	107576738	3	4	308	1	0	0	0	0	1	0	0	0	28	893	31	1	3128	1	ABCA1	9	107576738	Missense_Mutation	SNP	C	TCGA-25-1635-01A-01W-0615-10		107576738	33636693	6	16566											
CIZ1	25792	hgsc.bcm.edu	37	9	130947857	130947857	+	Missense_Mutation	SNP	C	C	T	rs370523965		TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr9:130947857C>T	ENST00000393608.1	-	5	759	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	CIZ1_ENST00000538431.1_Missense_Mutation_p.R186Q|CIZ1_ENST00000357558.5_Missense_Mutation_p.R186Q|CIZ1_ENST00000372954.1_Missense_Mutation_p.R162Q|CIZ1_ENST00000541172.1_Missense_Mutation_p.R85Q|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000277465.4_Missense_Mutation_p.R186Q|CIZ1_ENST00000325721.8_Missense_Mutation_p.R162Q|CIZ1_ENST00000372938.5_Missense_Mutation_p.R186Q|CIZ1_ENST00000372948.3_Missense_Mutation_p.R186Q	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	186					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R186Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGAGGAGGTCCGGGCCTGTTT	0.642																																																1	Substitution - Missense(1)	ovary(1)	9						C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	62	64	63		557,557,557,485,557	5.4	0.7	9		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	186/843,186/899,186/838,162/819,186/899	130947857	1,13005	2203	4300	6503	129987678	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.557G>A	9.37:g.130947857C>T	ENSP00000377232:p.Arg186Gln		129987678	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884036	0.91814	0.0	1.16E-4	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544	T;T;T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.44	5.44	0.79542	.	0.141547	0.32935	N	0.005470	D	0.83653	0.5301	L	0.29908	0.895	0.31576	N	0.655708	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;0.998;0.992;1.0;0.999	D;P;D;P;P;P;D;P	0.69307	0.92;0.776;0.963;0.888;0.888;0.623;0.934;0.776	D	0.83999	0.0342	10	0.56958	D	0.05	-37.1138	16.1154	0.81302	0.0:1.0:0.0:0.0	.	186;186;186;186;162;186;162;186	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	Q	162;186;186;186;162;153;85;186;162;186;186;113;186	ENSP00000362045:R162Q;ENSP00000377232:R186Q;ENSP00000439244:R186Q;ENSP00000350169:R186Q;ENSP00000320374:R162Q;ENSP00000445057:R85Q;ENSP00000277465:R186Q;ENSP00000362039:R186Q;ENSP00000362029:R186Q;ENSP00000398011:R113Q;ENSP00000321780:R186Q	ENSP00000277465:R186Q	R	-	2	0	CIZ1	129987678	0.993000	0.37304	0.738000	0.30950	0.904000	0.53231	3.955000	0.56715	2.832000	0.97577	0.655000	0.94253	CGG		0.642	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		T	130947857	C	T	130947857	3	4	308	1	0	0	0	0	1	0	0	0	3441	652	23	1	2191	1	CIZ1	9	130947857	Missense_Mutation	SNP	C	TCGA-25-1635-01A-01W-0615-10	23371119	130947857	10265574	7	16567											
RARG	5916	hgsc.bcm.edu	37	12	53621310	53621310	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr12:53621310C>T	ENST00000425354.2	-	3	507	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.R7Q|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	7	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R7Q(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGCAAAGAGTCGCTCCTTATT	0.672																																																1	Substitution - Missense(1)	ovary(1)	12											26	27	27					12																	53621310		2202	4297	6499	51907577	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.20G>A	12.37:g.53621310C>T	ENSP00000388510:p.Arg7Gln		51907577	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553812	0.45487	.	.	ENSG00000172819	ENST00000425354;ENST00000394426	D;D	0.91740	-2.9;-2.9	4.99	4.99	0.66335	.	0.251393	0.32002	N	0.006723	T	0.79969	0.4538	N	0.08118	0	0.80722	D	1	P	0.42871	0.792	B	0.26693	0.072	D	0.84336	0.0524	10	0.62326	D	0.03	.	13.98	0.64299	0.0:1.0:0.0:0.0	.	7	P13631	RARG_HUMAN	Q	7	ENSP00000388510:R7Q;ENSP00000377947:R7Q	ENSP00000377947:R7Q	R	-	2	0	RARG	51907577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.521000	0.53472	2.769000	0.95229	0.563000	0.77884	CGA		0.672	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		T	53621310	C	T	53621310	3	4	308	1	0	0	0	0	1	0	0	0	13057	884	31	1	1531	1	RARG	12	53621310	Missense_Mutation	SNP	C	TCGA-25-1635-01A-01W-0615-10		53621310	80230585	8	16568											
RB1	5925	hgsc.bcm.edu	37	13	48951053	48951053	+	Splice_Site	SNP	G	G	C	rs587778831		TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr13:48951053G>C	ENST00000267163.4	+	13	1353		c.e13-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACCTCCTAAAGAACTGCACAG	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	13	GRCh37	CS971888	RB1	S							83	90	88					13																	48951053		2203	4300	6503	47849054	SO:0001630	splice_region_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1216-1G>C	13.37:g.48951053G>C			47849054	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942494	0.73672	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47849054	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.600000	0.90860	2.814000	0.96858	0.591000	0.81541	.		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	C	48951053	G	C	48951053	5	2	308	1	0	0	0	0	0	0	1	0	13101	956	33	3	1265	3	RB1	13	48951053	Splice_Site	SNP	G	TCGA-25-1635-01A-01W-0615-10		48951053	66218825	9	16569											
EML1	2009	hgsc.bcm.edu	37	14	100341316	100341316	+	Intron	SNP	G	G	A			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr14:100341316G>A	ENST00000262233.6	+	4	522				EML1_ENST00000556758.1_Intron|EML1_ENST00000334192.4_Silent_p.S144S|EML1_ENST00000327921.9_Silent_p.S113S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1						brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.S144S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGAATAGATCGACACCAAGGT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	14											163	148	153					14																	100341316		2203	4300	6503	99411069	SO:0001627	intron_variant	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.384-3506G>A	14.37:g.100341316G>A			99411069	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	CCDS32155.1																																																																																				0.378	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		A	100341316	G	A	100341316	1	1	308	0	1	0	0	0	0	0	0	0	5096	1045	37	1		1	EML1	14	100341316	Intron	SNP	G	TCGA-25-1635-01A-01W-0615-10		100341316	7008224	10	16570											
SALL1	6299	hgsc.bcm.edu	37	16	51173556	51173556	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr16:51173556C>G	ENST00000251020.4	-	2	2610	c.2577G>C	c.(2575-2577)gaG>gaC	p.E859D	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.E762D	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	859					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E859D(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCTCGACATCTCGAGGGGCA	0.527																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - Missense(1)	ovary(1)	16											95	93	94					16																	51173556		2198	4300	6498	49731057	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2577G>C	16.37:g.51173556C>G	ENSP00000251020:p.Glu859Asp		49731057	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	4.464	0.085913	0.08583	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.47869	0.83;0.83	5.37	1.87	0.25490	.	0.217339	0.47852	D	0.000212	T	0.37019	0.0988	L	0.36672	1.1	0.38453	D	0.947029	P	0.49447	0.924	P	0.47044	0.535	T	0.16778	-1.0391	10	0.19590	T	0.45	.	7.2674	0.26237	0.0:0.5629:0.0:0.4371	.	859	Q9NSC2	SALL1_HUMAN	D	859;762;823	ENSP00000251020:E859D;ENSP00000407914:E762D	ENSP00000251020:E859D	E	-	3	2	SALL1	49731057	1.000000	0.71417	0.978000	0.43139	0.002000	0.02628	1.170000	0.31883	0.645000	0.30675	0.460000	0.39030	GAG		0.527	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		G	51173556	C	G	51173556	3	3	308	1	0	0	0	0	1	0	0	0	13813	912	32	3	1405	3	SALL1	16	51173556	Missense_Mutation	SNP	C	TCGA-25-1635-01A-01W-0615-10		51173556	39181197	11	16571											
TP53	7157	hgsc.bcm.edu	37	17	7577506	7577506	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr17:7577506C>A	ENST00000269305.4	-	7	964	c.775G>T	c.(775-777)Gac>Tac	p.D259Y	TP53_ENST00000413465.2_Missense_Mutation_p.D259Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.D259Y|TP53_ENST00000445888.2_Missense_Mutation_p.D259Y|TP53_ENST00000455263.2_Missense_Mutation_p.D259Y|TP53_ENST00000359597.4_Missense_Mutation_p.D259Y	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	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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)	GACCTGGAGTCTTCCAGTGTG	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	51	Substitution - Missense(32)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Deletion - In frame(1)|Unknown(1)	ovary(10)|lung(8)|large_intestine(7)|oesophagus(6)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|thyroid(1)|stomach(1)|soft_tissue(1)|cervix(1)|urinary_tract(1)|breast(1)|skin(1)|eye(1)|autonomic_ganglia(1)	17											135	95	109					17																	7577506		2203	4300	6503	7518231	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.775G>T	17.37:g.7577506C>A	ENSP00000269305:p.Asp259Tyr		7518231	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635716	0.47049	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.52	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99667	0.9876	M	0.73962	2.25	0.46774	D	0.999194	B;D;B;B;D	0.76494	0.097;0.983;0.03;0.338;0.999	B;P;B;B;D	0.72075	0.191;0.847;0.093;0.29;0.976	D	0.97265	0.9907	10	0.72032	D	0.01	-22.926	15.1458	0.72650	0.0:1.0:0.0:0.0	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	Y	259;259;259;259;259;259;248;127	ENSP00000410739:D259Y;ENSP00000352610:D259Y;ENSP00000269305:D259Y;ENSP00000398846:D259Y;ENSP00000391127:D259Y;ENSP00000391478:D259Y;ENSP00000425104:D127Y	ENSP00000269305:D259Y	D	-	1	0	TP53	7518231	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	2.570000	0.45981	2.517000	0.84864	0.462000	0.41574	GAC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577506	C	A	7577506	3	1	308	1	0	0	0	0	1	0	0	0	16381	913	32	3	515	3	TP53	17	7577506	Missense_Mutation	SNP	C	TCGA-25-1635-01A-01W-0615-10		7577506	73617704	12	16572											
TTC39C	125488	hgsc.bcm.edu	37	18	21660800	21660800	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr18:21660800C>T	ENST00000317571.3	+	5	948	c.712C>T	c.(712-714)Ctc>Ttc	p.L238F	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.L177F	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	238								p.L177F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CCCAAACCTGCTCAAAATCAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	18											91	89	89					18																	21660800		2203	4300	6503	19914798	SO:0001583	missense	125488			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.712C>T	18.37:g.21660800C>T	ENSP00000323645:p.Leu238Phe		19914798	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	c	28.4	4.914508	0.92178	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.52057	0.68;0.68	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73836	-0.3857	10	0.72032	D	0.01	-14.6795	20.0231	0.97510	0.0:1.0:0.0:0.0	.	238	Q8N584	TT39C_HUMAN	F	177;238	ENSP00000306598:L177F;ENSP00000323645:L238F	ENSP00000306598:L177F	L	+	1	0	TTC39C	19914798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.738000	0.68613	2.733000	0.93635	0.552000	0.68991	CTC		0.493	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		T	21660800	C	T	21660800	3	4	308	1	0	0	0	0	1	0	0	0	16709	797	28	2	730	2	TTC39C	18	21660800	Missense_Mutation	SNP	C	TCGA-25-1635-01A-01W-0615-10		21660800	56416448	13	16573											
DSC3	1825	hgsc.bcm.edu	37	18	28581615	28581615	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr18:28581615G>A	ENST00000360428.4	-	14	2284	c.2204C>T	c.(2203-2205)tCa>tTa	p.S735L	DSC3_ENST00000434452.1_Missense_Mutation_p.S735L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	735					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.S735L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTGTGTTTGATATAATTAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	18											95	98	97					18																	28581615		2203	4298	6501	26835613	SO:0001583	missense	1825			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2204C>T	18.37:g.28581615G>A	ENSP00000353608:p.Ser735Leu		26835613	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431823	0.43122	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.58060	0.36;0.39	4.48	4.48	0.54585	.	0.000000	0.28493	N	0.015160	T	0.75459	0.3852	M	0.85945	2.785	0.53688	D	0.999974	D;D	0.89917	0.997;1.0	D;D	0.81914	0.98;0.995	T	0.80011	-0.1561	10	0.62326	D	0.03	.	17.3066	0.87197	0.0:0.0:1.0:0.0	.	735;735	Q14574;Q14574-2	DSC3_HUMAN;.	L	735	ENSP00000353608:S735L;ENSP00000392068:S735L	ENSP00000353608:S735L	S	-	2	0	DSC3	26835613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.215000	0.72206	2.479000	0.83701	0.557000	0.71058	TCA		0.313	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		A	28581615	G	A	28581615	3	1	308	1	0	0	0	0	1	0	0	0	4767	1294	45	2	529	2	DSC3	18	28581615	Missense_Mutation	SNP	G	TCGA-25-1635-01A-01W-0615-10	6920815	28581615	49495633	14	16574											
ICAM3	3385	hgsc.bcm.edu	37	19	10450218	10450218	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr19:10450218G>A	ENST00000160262.5	-	1	281	c.73C>T	c.(73-75)Cca>Tca	p.P25S	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	25					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)	p.P25S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GTCTCACCTGGGGTCAGCAGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	19											49	47	48					19																	10450218		2203	4300	6503	10311218	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.73C>T	19.37:g.10450218G>A	ENSP00000160262:p.Pro25Ser		10311218	Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403457	0.25291	.	.	ENSG00000076662	ENST00000160262	T	0.02631	4.22	4.35	0.975	0.19721	.	1.566950	0.04210	N	0.331589	T	0.03390	0.0098	L	0.43152	1.355	0.54753	D	0.999987	B	0.18863	0.031	B	0.13407	0.009	T	0.38200	-0.9672	10	0.35671	T	0.21	.	3.3808	0.07254	0.2165:0.0:0.5796:0.2039	.	25	P32942	ICAM3_HUMAN	S	25	ENSP00000160262:P25S	ENSP00000160262:P25S	P	-	1	0	ICAM3	10311218	0.285000	0.24296	0.942000	0.38095	0.642000	0.38348	0.215000	0.17562	0.555000	0.29079	0.561000	0.74099	CCA		0.597	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			A	10450218	G	A	10450218	3	1	308	1	0	0	0	0	1	0	0	0	7481	1232	43	2	1598	2	ICAM3	19	10450218	Missense_Mutation	SNP	G	TCGA-25-1635-01A-01W-0615-10		10450218	48678765	15	16575											
SLC12A5	57468	hgsc.bcm.edu	37	20	44674980	44674980	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chr20:44674980C>G	ENST00000454036.2	+	14	1810	c.1761C>G	c.(1759-1761)ttC>ttG	p.F587L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.F564L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	587					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.F564L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTCCAGGTTCTTCCTGATGT	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											101	88	93					20																	44674980		2203	4300	6503	44108387	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1761C>G	20.37:g.44674980C>G	ENSP00000387694:p.Phe587Leu		44108387	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727519	0.69074	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98996	-5.31;-5.31	4.24	4.24	0.50183	Amino acid permease domain (1);	0.067332	0.64402	D	0.000013	D	0.98463	0.9488	M	0.83223	2.63	0.80722	D	1	P;B	0.36974	0.576;0.11	B;B	0.43990	0.438;0.164	D	0.99050	1.0827	10	0.87932	D	0	.	9.2111	0.37320	0.0:0.8994:0.0:0.1006	.	587;564	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	L	587;564	ENSP00000387694:F587L;ENSP00000243964:F564L	ENSP00000243964:F564L	F	+	3	2	SLC12A5	44108387	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.349000	0.20055	2.201000	0.70794	0.557000	0.71058	TTC		0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			G	44674980	C	G	44674980	3	3	308	1	0	0	0	0	1	0	0	0	14389	912	32	3	1871	3	SLC12A5	20	44674980	Missense_Mutation	SNP	C	TCGA-25-1635-01A-01W-0615-10		44674980	18350540	16	16576											
TLR7	51284	hgsc.bcm.edu	37	X	12904346	12904346	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chrX:12904346T>C	ENST00000380659.3	+	3	858	c.719T>C	c.(718-720)aTc>aCc	p.I240T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	240					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.I240T(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ATTGCAAAAATCCAAGAAGAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	X											69	63	65					X																	12904346		2203	4300	6503	12814267	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.719T>C	X.37:g.12904346T>C	ENSP00000370034:p.Ile240Thr		12814267	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282489	0.40394	.	.	ENSG00000196664	ENST00000380659	T	0.02812	4.15	5.41	5.41	0.78517	.	0.151793	0.43919	D	0.000501	T	0.18759	0.0450	H	0.95365	3.66	0.21675	N	0.999593	P	0.52061	0.95	P	0.55161	0.77	T	0.32322	-0.9911	10	0.87932	D	0	.	14.4614	0.67453	0.0:0.0:0.0:1.0	.	240	Q9NYK1	TLR7_HUMAN	T	240	ENSP00000370034:I240T	ENSP00000370034:I240T	I	+	2	0	TLR7	12814267	0.997000	0.39634	0.764000	0.31436	0.114000	0.19823	7.986000	0.88173	1.794000	0.52575	0.477000	0.44152	ATC		0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		C	12904346	T	C	12904346	3	2	308	1	0	0	0	0	1	0	0	0	15956	1435	50	4	725	4	TLR7	23	12904346	Missense_Mutation	SNP	T	TCGA-25-1635-01A-01W-0615-10		12904346	142366214	17	16577											
STAG2	10735	hgsc.bcm.edu	37	X	123220410	123220410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-1635-01A-01W-0615-10	TCGA-25-1635-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b7551bc9-c6f2-4e7f-a78d-3feba08889a5	8eb5b8f2-6282-4e07-a0f2-7f867b325cdc	g.chrX:123220410G>T	ENST00000371160.1	+	30	3357	c.3067G>T	c.(3067-3069)Gaa>Taa	p.E1023*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E1023*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.E1023*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E1023*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.E1023*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E954*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1023					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.E1023*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGTTTACTTGGAAAAGTTCAT	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	X											134	111	118					X																	123220410		2203	4300	6503	123048091	SO:0001587	stop_gained	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3067G>T	X.37:g.123220410G>T	ENSP00000360202:p.Glu1023*		123048091	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	44	11.179610	0.99527	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.6006	18.308	0.90189	0.0:0.0:1.0:0.0	.	.	.	.	X	1023;954;1023;1023;1023;1023	.	ENSP00000218089:E1023X	E	+	1	0	STAG2	123048091	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.349000	0.79799	0.513000	0.50165	GAA		0.398	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123220410	G	T	123220410	4	4	308	1	0	0	0	0	0	1	0	0	15245	1175	41	3	3177	3	STAG2	23	123220410	Nonsense_Mutation	SNP	G	TCGA-25-1635-01A-01W-0615-10	110316064	123220410	32050150	18	16578											
PRDM16	63976	broad.mit.edu	37	1	3328714	3328714	+	Silent	SNP	C	C	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:3328714C>T	ENST00000270722.5	+	9	2002	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.G651G|PRDM16_ENST00000442529.2_Silent_p.G651G|PRDM16_ENST00000511072.1_Silent_p.G652G|PRDM16_ENST00000441472.2_Silent_p.G651G|PRDM16_ENST00000514189.1_Silent_p.G652G|PRDM16_ENST00000378398.3_Silent_p.G652G			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	651					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.G651G(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGTTTGGGGGCGGCTTGGCGC	0.687			T	EVI1	"MDS, AML"																																		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	1	Substitution - coding silent(1)	ovary(1)	1											29	39	36					1																	3328714		1956	4118	6074	3318574	SO:0001819	synonymous_variant	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1953C>T	1.37:g.3328714C>T			3318574	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																				0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		T	3328714	C	T	3328714	2	4	309	1	0	0	0	0	0	0	0	1	12460	755	27	1		1	PRDM16	1	3328714	Silent	SNP	C	TCGA-25-2042-01A-01W-0799-08		3328714	245921907	1	16579											
HEYL	26508	broad.mit.edu	37	1	40105268	40105268	+	Silent	SNP	G	G	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:40105268G>A	ENST00000372852.3	-	1	349	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	10					atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.S10S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTCCCCGTCGGAGCCGCTCG	0.731																																																1	Substitution - coding silent(1)	ovary(1)	1											9	10	10					1																	40105268		2171	4271	6442	39877855	SO:0001819	synonymous_variant	26508			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"Basic helix-loop-helix proteins"	4882	protein-coding gene	gene with protein product	"hairy/enhancer-of-split related with YRPW motif 3"	609034	"hairy/enhancer-of-split related with YRPW motif-like"			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.30C>T	1.37:g.40105268G>A			39877855	Q5TG99	Silent	SNP	ENST00000372852.3	37	CCDS439.1																																																																																				0.731	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2	NM_014571		A	40105268	G	A	40105268	2	1	309	1	0	0	0	0	0	0	0	1	7080	1103	39	1		1	HEYL	1	40105268	Silent	SNP	G	TCGA-25-2042-01A-01W-0799-08	36776554	40105268	209145353	2	16580											
COL11A1	1301	broad.mit.edu	37	1	103491077	103491077	+	Splice_Site	SNP	C	C	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:103491077C>T	ENST00000370096.3	-	7	1302	c.990G>A	c.(988-990)gaG>gaA	p.E330E	COL11A1_ENST00000358392.2_Splice_Site_p.E342E|COL11A1_ENST00000353414.4_Splice_Site_p.E291E|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	330	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E342E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACGTATTACCTCATTTGTCC	0.328																																																1	Substitution - coding silent(1)	ovary(1)	1											139	129	132					1																	103491077		2203	4300	6503	103263665	SO:0001630	splice_region_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.990+1G>A	1.37:g.103491077C>T			103263665	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																				0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Silent	T	103491077	C	T	103491077	5	4	309	1	0	0	0	0	0	0	1	0	3667	695	24	2	4674	2	COL11A1	1	103491077	Splice_Site	SNP	C	TCGA-25-2042-01A-01W-0799-08	63385809	103491077	145759544	3	16581											
C1orf88	128344	broad.mit.edu	37	1	111891250	111891250	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:111891250A>C	ENST00000369738.4	+	4	736	c.371A>C	c.(370-372)aAg>aCg	p.K124T	PIFO_ENST00000369737.4_Missense_Mutation_p.K91T|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	124					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)	p.K124T(1)									AACTACCCAAAGGACACTTAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											302	328	320					1																	111891250		2203	4300	6503	111692773	SO:0001583	missense	128344			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"chromosome 1 open reading frame 88"	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.371A>C	1.37:g.111891250A>C	ENSP00000358753:p.Lys124Thr		111692773	D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	CCDS833.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670568	0.29693	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.32023	1.89;1.47	4.36	4.36	0.52297	.	0.704488	0.12956	N	0.425443	T	0.20373	0.0490	M	0.65975	2.015	0.18873	N	0.999988	P;P	0.46142	0.873;0.787	B;B	0.43916	0.436;0.344	T	0.05178	-1.0901	10	0.35671	T	0.21	-4.3398	10.5682	0.45186	1.0:0.0:0.0:0.0	.	91;124	Q8TCI5-3;Q8TCI5	.;PIFO_HUMAN	T	124;91	ENSP00000358753:K124T;ENSP00000358752:K91T	ENSP00000358752:K91T	K	+	2	0	C1orf88	111692773	0.035000	0.19736	0.235000	0.24058	0.129000	0.20672	0.637000	0.24659	1.939000	0.56221	0.369000	0.22263	AAG		0.398	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643		C	111891250	A	C	111891250	3	2	309	1	0	0	0	0	1	0	0	0	2065	72	3	5	385	5	C1orf88	1	111891250	Missense_Mutation	SNP	A	TCGA-25-2042-01A-01W-0799-08	8400173	111891250	137359371	4	16582											
WNT2B	7482	broad.mit.edu	37	1	113059875	113059875	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:113059875G>T	ENST00000369684.4	+	4	1299	c.814G>T	c.(814-816)Gct>Tct	p.A272S	WNT2B_ENST00000256640.5_Missense_Mutation_p.A180S|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.A253S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	272					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.A272S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATGATGGGGCTGTGCAGGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											63	56	58					1																	113059875		2203	4300	6503	112861398	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.814G>T	1.37:g.113059875G>T	ENSP00000358698:p.Ala272Ser		112861398	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804188	0.96967	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	D;D;D	0.82526	-1.62;-1.62;-1.62	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.87661	0.6233	M	0.73217	2.22	0.80722	D	1	D;D	0.54601	0.967;0.959	P;P	0.58391	0.838;0.749	D	0.87477	0.2418	10	0.52906	T	0.07	.	19.0601	0.93090	0.0:0.0:1.0:0.0	.	272;253	Q93097;Q93097-2	WNT2B_HUMAN;.	S	180;253;272	ENSP00000256640:A180S;ENSP00000358700:A253S;ENSP00000358698:A272S	ENSP00000256640:A180S	A	+	1	0	WNT2B	112861398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.599000	0.87857	0.555000	0.69702	GCT		0.602	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		T	113059875	G	T	113059875	3	4	309	1	0	0	0	0	1	0	0	0	17387	1203	42	3	961	3	WNT2B	1	113059875	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08	1168625	113059875	136190746	5	16583											
GPR155	151556	broad.mit.edu	37	2	175331291	175331291	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:175331291G>C	ENST00000392552.2	-	6	1485	c.1247C>G	c.(1246-1248)aCt>aGt	p.T416S	GPR155_ENST00000392551.2_Missense_Mutation_p.T416S|GPR155_ENST00000295500.4_Missense_Mutation_p.T416S	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	416					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T416S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GAGTAAATTAGTTGTAAGCAT	0.313																																																1	Substitution - Missense(1)	ovary(1)	2											81	90	87					2																	175331291		2202	4284	6486	175039537	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1247C>G	2.37:g.175331291G>C	ENSP00000376335:p.Thr416Ser		175039537	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809611	0.31961	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.43688	0.94;0.94;0.94	5.73	3.93	0.45458	.	0.443842	0.28241	N	0.016072	T	0.29652	0.0740	N	0.21448	0.665	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.18555	-1.0333	10	0.45353	T	0.12	-1.6047	12.1151	0.53860	0.1385:0.0:0.8615:0.0	.	416	Q7Z3F1	GP155_HUMAN	S	416	ENSP00000376335:T416S;ENSP00000376334:T416S;ENSP00000295500:T416S	ENSP00000295500:T416S	T	-	2	0	GPR155	175039537	0.697000	0.27767	0.859000	0.33776	0.964000	0.63967	3.537000	0.53590	0.767000	0.33267	0.650000	0.86243	ACT		0.313	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		C	175331291	G	C	175331291	3	2	309	1	0	0	0	0	1	0	0	0	6660	1029	36	3	1409	3	GPR155	2	175331291	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08		175331291	67868082	6	16584											
TTN	7273	broad.mit.edu	37	2	179604888	179604888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:179604888C>A	ENST00000591111.1	-	46	12345	c.12121G>T	c.(12121-12123)Gag>Tag	p.E4041*	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E4120*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E3995*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E4187*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E4358*			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3995*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTAGACTCAATGATTTGG	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	2											80	79	79					2																	179604888		1859	4097	5956	179313133	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12121G>T	2.37:g.179604888C>A	ENSP00000465570:p.Glu4041*		179313133	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	52	19.472509	0.99919	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.92	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0541	0.19802	0.0:0.592:0.127:0.281	.	.	.	.	X	3995;4187;4120;3995	.	ENSP00000340554:E4187X	E	-	1	0	TTN	179313133	0.000000	0.05858	0.017000	0.16124	0.049000	0.14656	-0.319000	0.08039	0.828000	0.34709	0.655000	0.94253	GAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179604888	C	A	179604888	4	1	309	1	0	0	0	0	0	1	0	0	16735	835	29	3	91717	3	TTN	2	179604888	Nonsense_Mutation	SNP	C	TCGA-25-2042-01A-01W-0799-08	4273597	179604888	63594485	7	16585											
CCDC141	285025	broad.mit.edu	37	2	179732789	179732789	+	Silent	SNP	G	G	T	rs553756414		TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:179732789G>T	ENST00000420890.2	-	16	2655	c.2538C>A	c.(2536-2538)tcC>tcA	p.S846S	CCDC141_ENST00000295723.5_Silent_p.S271S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	846								p.S271S(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGACTCCTAAGGAAAGGGCCA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	2											133	114	120					2																	179732789		2203	4300	6503	179441034	SO:0001819	synonymous_variant	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2538C>A	2.37:g.179732789G>T			179441034	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37																																																																																					0.507	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		T	179732789	G	T	179732789	2	4	309	1	0	0	0	0	0	0	0	1	2775	987	35	3		3	CCDC141	2	179732789	Silent	SNP	G	TCGA-25-2042-01A-01W-0799-08	127901	179732789	63466584	8	16586											
WDR75	84128	broad.mit.edu	37	2	190339474	190339474	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:190339474C>G	ENST00000314761.4	+	20	2288	c.2228C>G	c.(2227-2229)tCt>tGt	p.S743C		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	743						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S743C(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GTCCTGCCATCTGCTGCTTTC	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											129	109	116					2																	190339474		2203	4300	6503	190047719	SO:0001583	missense	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2228C>G	2.37:g.190339474C>G	ENSP00000314193:p.Ser743Cys		190047719	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098556	0.56183	.	.	ENSG00000115368	ENST00000314761	T	0.64803	-0.12	5.63	5.63	0.86233	.	0.361239	0.33161	N	0.005201	T	0.75686	0.3883	L	0.59436	1.845	0.46774	D	0.999198	D;D	0.89917	1.0;1.0	D;D	0.65010	0.931;0.931	T	0.75847	-0.3173	10	0.59425	D	0.04	-11.2337	18.2374	0.89954	0.0:1.0:0.0:0.0	.	743;743	A8K330;Q8IWA0	.;WDR75_HUMAN	C	743	ENSP00000314193:S743C	ENSP00000314193:S743C	S	+	2	0	WDR75	190047719	0.995000	0.38212	0.123000	0.21794	0.209000	0.24338	6.673000	0.74482	2.826000	0.97356	0.655000	0.94253	TCT		0.448	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		G	190339474	C	G	190339474	3	3	309	1	0	0	0	0	1	0	0	0	17325	913	32	3	2306	3	WDR75	2	190339474	Missense_Mutation	SNP	C	TCGA-25-2042-01A-01W-0799-08	10606685	190339474	52859899	9	16587											
SLC40A1	30061	broad.mit.edu	37	2	190430258	190430258	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:190430258C>G	ENST00000261024.2	-	6	1008	c.582G>C	c.(580-582)caG>caC	p.Q194H		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	194					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)	p.Q194H(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ATGTCATAATCTGGCCAACAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											99	102	101					2																	190430258		2203	4300	6503	190138503	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.582G>C	2.37:g.190430258C>G	ENSP00000261024:p.Gln194His		190138503	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586344	0.86851	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;D	0.94138	-1.41;-3.36	6.02	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);	0.148106	0.64402	N	0.000007	D	0.95159	0.8431	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92793	0.6250	10	0.27785	T	0.31	-12.0594	11.7984	0.52112	0.0:0.8656:0.0:0.1344	.	194	Q9NP59	S40A1_HUMAN	H	194	ENSP00000261024:Q194H;ENSP00000390005:Q194H	ENSP00000261024:Q194H	Q	-	3	2	SLC40A1	190138503	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.689000	0.46993	2.865000	0.98341	0.655000	0.94253	CAG		0.488	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			G	190430258	C	G	190430258	3	3	309	1	0	0	0	0	1	0	0	0	14631	912	32	3	1145	3	SLC40A1	2	190430258	Missense_Mutation	SNP	C	TCGA-25-2042-01A-01W-0799-08	90784	190430258	52769115	10	16588											
ABCA12	26154	broad.mit.edu	37	2	215807722	215807722	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:215807722G>C	ENST00000272895.7	-	50	7582	c.7363C>G	c.(7363-7365)Ctc>Gtc	p.L2455V	ABCA12_ENST00000389661.4_Missense_Mutation_p.L2137V|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2455	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.L2455V(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGGTACAGAGAGCTTCACAT	0.383																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	ovary(1)	2											124	106	112					2																	215807722		2203	4300	6503	215515967	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7363C>G	2.37:g.215807722G>C	ENSP00000272895:p.Leu2455Val		215515967	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219891	0.79464	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.97941	-4.62;-4.62	5.65	4.76	0.60689	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.56097	D	0.000033	D	0.98385	0.9463	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.966	D	0.98304	1.0520	10	0.66056	D	0.02	.	14.0358	0.64644	0.0736:0.0:0.9264:0.0	.	2455;2137	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	V	2455;2137	ENSP00000272895:L2455V;ENSP00000374312:L2137V	ENSP00000272895:L2455V	L	-	1	0	ABCA12	215515967	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.272000	0.65559	2.821000	0.97095	0.650000	0.86243	CTC		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		C	215807722	G	C	215807722	3	2	309	1	0	0	0	0	1	0	0	0	30	942	33	3	440	3	ABCA12	2	215807722	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08	25377464	215807722	27391651	11	16589											
C2orf57	165100	broad.mit.edu	37	2	232457879	232457879	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:232457879G>T	ENST00000313965.2	+	1	305	c.217G>T	c.(217-219)Gtt>Ttt	p.V73F		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	73								p.V73F(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CAAGAGTGCAGTTGTTCCAGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											128	132	131					2																	232457879		2203	4300	6503	232166123	SO:0001583	missense	165100			BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.217G>T	2.37:g.232457879G>T	ENSP00000315557:p.Val73Phe		232166123	Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.083438	0.36758	.	.	ENSG00000177673	ENST00000313965	T	0.18338	2.22	3.62	1.82	0.25136	.	1.814210	0.03502	N	0.218268	T	0.12817	0.0311	N	0.14661	0.345	0.09310	N	1	P	0.49090	0.919	B	0.43536	0.423	T	0.18209	-1.0344	10	0.62326	D	0.03	.	5.5702	0.17192	0.2475:0.0:0.7525:0.0	.	73	Q53QW1	CB057_HUMAN	F	73	ENSP00000315557:V73F	ENSP00000315557:V73F	V	+	1	0	C2orf57	232166123	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.593000	0.23999	0.541000	0.28827	-0.251000	0.11542	GTT		0.522	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		T	232457879	G	T	232457879	3	4	309	1	0	0	0	0	1	0	0	0	2178	1029	36	3	219	3	C2orf57	2	232457879	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08	16650157	232457879	10741494	12	16590											
SAG	6295	broad.mit.edu	37	2	234237227	234237227	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:234237227C>A	ENST00000409110.1	+	8	846	c.616C>A	c.(616-618)Ccc>Acc	p.P206T	SAG_ENST00000449594.2_Missense_Mutation_p.P72T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	206					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)	p.P206T(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GTCTGACAAGCCCCTGCACCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											96	94	95					2																	234237227		1993	4169	6162	233901966	SO:0001583	missense	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.616C>A	2.37:g.234237227C>A	ENSP00000386444:p.Pro206Thr		233901966	A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319868	0.81469	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.17213	2.29;2.29	4.19	4.19	0.49359	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.84683	2.71	0.58432	D	0.999996	D;D	0.61697	0.989;0.99	P;P	0.58130	0.77;0.833	T	0.52434	-0.8576	10	0.59425	D	0.04	-26.2467	17.1039	0.86657	0.0:1.0:0.0:0.0	.	72;206	B7Z7L5;P10523	.;ARRS_HUMAN	T	206;206;72	ENSP00000386444:P206T;ENSP00000392889:P72T	ENSP00000252857:P206T	P	+	1	0	SAG	233901966	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.830000	0.55768	2.342000	0.79632	0.655000	0.94253	CCC		0.607	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		A	234237227	C	A	234237227	3	1	309	1	0	0	0	0	1	0	0	0	13811	739	26	3	642	3	SAG	2	234237227	Missense_Mutation	SNP	C	TCGA-25-2042-01A-01W-0799-08	1779348	234237227	8962146	13	16591											
RBM44	375316	broad.mit.edu	37	2	238737961	238737961	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:238737961T>C	ENST00000409864.1	+	13	2959	c.2705T>C	c.(2704-2706)gTt>gCt	p.V902A	RBM44_ENST00000316997.4_Missense_Mutation_p.V902A			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	901	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.V902A(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GTGTGGCCTGTTAAAATTCTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											111	109	110					2																	238737961		1830	4087	5917	238402700	SO:0001583	missense	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2705T>C	2.37:g.238737961T>C	ENSP00000386727:p.Val902Ala		238402700	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518769	0.44763	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.12147	2.71;2.71	4.46	3.3	0.37823	.	.	.	.	.	T	0.11281	0.0275	N	0.04746	-0.17	0.29905	N	0.824043	D	0.56968	0.978	P	0.55303	0.773	T	0.05370	-1.0889	9	0.56958	D	0.05	-11.8435	6.1208	0.20151	0.0:0.1144:0.0:0.8856	.	901	Q6ZP01	RBM44_HUMAN	A	902	ENSP00000321179:V902A;ENSP00000386727:V902A	ENSP00000321179:V902A	V	+	2	0	RBM44	238402700	0.957000	0.32711	0.997000	0.53966	0.920000	0.55202	1.873000	0.39558	1.784000	0.52394	0.450000	0.29827	GTT		0.338	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		C	238737961	T	C	238737961	3	2	309	1	0	0	0	0	1	0	0	0	13141	1725	60	4	2751	4	RBM44	2	238737961	Missense_Mutation	SNP	T	TCGA-25-2042-01A-01W-0799-08	4500734	238737961	4461412	14	16592											
RFTN1	23180	broad.mit.edu	37	3	16358606	16358606	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:16358606C>A	ENST00000334133.4	-	10	1738	c.1466G>T	c.(1465-1467)gGa>gTa	p.G489V	OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.G453V|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron|RP11-415F23.2_ENST00000607464.1_RNA|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	489					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.G489V(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCCCATGTCTCCAGCTTTGGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											134	125	128					3																	16358606		2203	4300	6503	16333610	SO:0001583	missense	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1466G>T	3.37:g.16358606C>A	ENSP00000334153:p.Gly489Val		16333610	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664441	0.47572	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.42900	0.96;1.05	5.43	1.49	0.22878	.	1.797300	0.02497	N	0.090031	T	0.51160	0.1658	L	0.57536	1.79	0.29984	N	0.817445	D;D	0.56746	0.96;0.977	P;P	0.54100	0.643;0.742	T	0.23084	-1.0198	10	0.72032	D	0.01	-8.4003	3.0083	0.06035	0.1457:0.5567:0.1409:0.1567	.	453;489	G3XAJ6;Q14699	.;RFTN1_HUMAN	V	453;489	ENSP00000403926:G453V;ENSP00000334153:G489V	ENSP00000334153:G489V	G	-	2	0	RFTN1	16333610	0.003000	0.15002	0.001000	0.08648	0.019000	0.09904	0.103000	0.15292	0.054000	0.16065	0.563000	0.77884	GGA		0.493	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		A	16358606	C	A	16358606	3	1	309	1	0	0	0	0	1	0	0	0	13261	855	30	3	274	3	RFTN1	3	16358606	Missense_Mutation	SNP	C	TCGA-25-2042-01A-01W-0799-08		16358606	181663824	15	16593											
DCBLD2	131566	broad.mit.edu	37	3	98531323	98531323	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:98531323A>G	ENST00000326840.6	-	10	1578	c.1216T>C	c.(1216-1218)Ttt>Ctt	p.F406L	DCBLD2_ENST00000326857.9_Missense_Mutation_p.F406L	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	406	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.F406L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTTCCTTGAAATATCTTTAAA	0.343																																																1	Substitution - Missense(1)	ovary(1)	3											46	43	44					3																	98531323		1817	4080	5897	100014013	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1216T>C	3.37:g.98531323A>G	ENSP00000321573:p.Phe406Leu		100014013	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736943	0.89482	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	D;D	0.84516	-1.86;-1.86	5.88	5.88	0.94601	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.79108	0.935;0.992	D	0.92324	0.5868	10	0.56958	D	0.05	-22.956	14.2535	0.66035	1.0:0.0:0.0:0.0	.	406;406	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	L	406;355;406	ENSP00000321573:F406L;ENSP00000321646:F406L	ENSP00000321573:F406L	F	-	1	0	DCBLD2	100014013	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.651000	0.91078	2.239000	0.73571	0.533000	0.62120	TTT		0.343	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		G	98531323	A	G	98531323	3	3	309	1	0	0	0	0	1	0	0	0	4281	101	4	4	1139	4	DCBLD2	3	98531323	Missense_Mutation	SNP	A	TCGA-25-2042-01A-01W-0799-08	82172717	98531323	99491107	16	16594											
NIT2	56954	broad.mit.edu	37	3	100071324	100071324	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:100071324C>T	ENST00000394140.4	+	8	752	c.661C>T	c.(661-663)Cac>Tac	p.H221Y		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	221	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.H221Y(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TGCCTGGGGACACAGCACCGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											134	118	124					3																	100071324		2203	4300	6503	101554014	SO:0001583	missense	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.661C>T	3.37:g.100071324C>T	ENSP00000377696:p.His221Tyr		101554014	B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919171	0.92249	.	.	ENSG00000114021	ENST00000394140	T	0.63417	-0.04	5.31	5.31	0.75309	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.044152	0.85682	D	0.000000	T	0.72732	0.3497	M	0.89601	3.045	0.80722	D	1	P	0.44776	0.843	B	0.41764	0.366	T	0.80605	-0.1308	10	0.66056	D	0.02	-6.0066	18.5749	0.91151	0.0:1.0:0.0:0.0	.	221	Q9NQR4	NIT2_HUMAN	Y	221	ENSP00000377696:H221Y	ENSP00000377696:H221Y	H	+	1	0	NIT2	101554014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.360000	0.79487	2.495000	0.84180	0.557000	0.71058	CAC		0.537	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		T	100071324	C	T	100071324	3	4	309	1	0	0	0	0	1	0	0	0	10434	478	17	2	691	2	NIT2	3	100071324	Missense_Mutation	SNP	C	TCGA-25-2042-01A-01W-0799-08	1540001	100071324	97951106	17	16595											
NFKBIZ	64332	broad.mit.edu	37	3	101574637	101574637	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:101574637G>A	ENST00000326172.5	+	9	1830	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.R450K|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.R472K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	572	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R572K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GAACTCCAGAGAAATCAACAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											116	108	111					3																	101574637		2203	4300	6503	103057327	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1715G>A	3.37:g.101574637G>A	ENSP00000325663:p.Arg572Lys		103057327	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.09|11.09	1.537684|1.537684	0.27475|0.27475	.|.	.|.	ENSG00000144802|ENSG00000144802	ENST00000477601|ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	.|T;T;T;T	.|0.54279	.|0.63;0.58;0.65;0.67	5.92|5.92	2.95|2.95	0.34219|0.34219	.|Ankyrin repeat-containing domain (3);	.|0.416158	.|0.27577	.|N	.|0.018747	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.05608|0.05608	-0.01|-0.01	0.20489|0.20489	N|N	0.999897|0.999897	.|B;B	.|0.12630	.|0.006;0.003	.|B;B	.|0.10450	.|0.003;0.005	T|T	0.26643|0.26643	-1.0097|-1.0097	5|10	.|0.02654	.|T	.|1	-11.058|-11.058	3.4096|3.4096	0.07353|0.07353	0.1271:0.2732:0.4595:0.1403|0.1271:0.2732:0.4595:0.1403	.|.	.|450;572	.|Q9BYH8-3;Q9BYH8	.|.;IKBZ_HUMAN	K|K	21|472;472;450;572	.|ENSP00000419800:R472K;ENSP00000377618:R472K;ENSP00000325593:R450K;ENSP00000325663:R572K	.|ENSP00000325593:R450K	E|R	+|+	1|2	0|0	NFKBIZ|NFKBIZ	103057327|103057327	0.984000|0.984000	0.35163|0.35163	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	1.203000|1.203000	0.32284|0.32284	0.799000|0.799000	0.34018|0.34018	-0.188000|-0.188000	0.12872|0.12872	GAA|AGA		0.458	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		A	101574637	G	A	101574637	3	1	309	1	0	0	0	0	1	0	0	0	10383	942	33	2	1749	2	NFKBIZ	3	101574637	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08	1503313	101574637	96447793	18	16596											
TMEM22	80723	broad.mit.edu	37	3	136573502	136573516	+	In_Frame_Del	DEL	CTTTCTTTGGAACCA	CTTTCTTTGGAACCA	-			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	CTTTCTTTGGAACCA	CTTTCTTTGGAACCA	-	-	CTTTCTTTGGAACCA	CTTTCTTTGGAACCA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:136573502_136573516delCTTTCTTTGGAACCA	ENST00000446465.2	+	2	828_842	c.200_214delCTTTCTTTGGAACCA	c.(199-216)gctttctttggaaccatg>gtg	p.67_72AFFGTM>V	SLC35G2_ENST00000393079.3_In_Frame_Del_p.67_72AFFGTM>V|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.A67_M72>V(1)									AAAGGGAGAGCTTTCTTTGGAACCATGGATACCCT	0.386																																																1	Complex - deletion inframe(1)	ovary(1)	3																																								138056206	SO:0001651	inframe_deletion	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.200_214delCTTTCTTTGGAACCA	3.37:g.136573502_136573516delCTTTCTTTGGAACCA	ENSP00000400839:p.Ala67_Met72delinsVal		138056192		In_Frame_Del	DEL	ENST00000446465.2	37	CCDS3091.1																																																																																				0.386	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		-	136573516	CTTTCTTTGGAACCA	-	136573502	7	5	309	1	0	1	0	1	0	0	0	0	16143	797	28	0	202	0	TMEM22	3	136573502	In_Frame_Del	DEL	CTTTCTTTGGAACCA	TCGA-25-2042-01A-01W-0799-08	34998865	136573502	61448928	19	16597											
MAN2B2	23324	broad.mit.edu	37	4	6598867	6598867	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr4:6598867A>G	ENST00000285599.3	+	8	1121	c.1085A>G	c.(1084-1086)tAc>tGc	p.Y362C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Y311C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	362					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.Y362C(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACGGGCTTCTACACGTCCCGC	0.627																																																1	Substitution - Missense(1)	ovary(1)	4											94	103	100					4																	6598867		2203	4300	6503	6649768	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1085A>G	4.37:g.6598867A>G	ENSP00000285599:p.Tyr362Cys		6649768	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.76|18.76	3.692885|3.692885	0.68271|0.68271	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|D;D	.|0.87334	.|-2.24;-2.24	5.13|5.13	-1.16|-1.16	0.09678|0.09678	.|Glycoside hydrolase, family 38, central domain (2);	.|0.250811	.|0.39759	.|N	.|0.001262	D|D	0.91250|0.91250	0.7242|0.7242	H|H	0.94264|0.94264	3.515|3.515	0.50039|0.50039	D|D	0.999847|0.999847	.|P;P;P	.|0.46784	.|0.727;0.727;0.884	.|P;P;P	.|0.49665	.|0.562;0.478;0.618	D|D	0.90449|0.90449	0.4437|0.4437	5|10	.|0.66056	.|D	.|0.02	-19.2869|-19.2869	10.2095|10.2095	0.43132|0.43132	0.5008:0.0:0.0:0.4992|0.5008:0.0:0.0:0.4992	.|.	.|311;362;362	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	A|C	361|362;311	.|ENSP00000285599:Y362C;ENSP00000423129:Y311C	.|ENSP00000285599:Y362C	T|Y	+|+	1|2	0|0	MAN2B2|MAN2B2	6649768|6649768	1.000000|1.000000	0.71417|0.71417	0.654000|0.654000	0.29608|0.29608	0.939000|0.939000	0.58152|0.58152	4.575000|4.575000	0.60908|0.60908	-0.071000|-0.071000	0.12886|0.12886	0.448000|0.448000	0.29417|0.29417	ACA|TAC		0.627	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		G	6598867	A	G	6598867	3	3	309	1	0	0	0	0	1	0	0	0	9217	391	14	4	1115	4	MAN2B2	4	6598867	Missense_Mutation	SNP	A	TCGA-25-2042-01A-01W-0799-08		6598867	184555409	20	16598											
GCM2	9247	broad.mit.edu	37	6	10874450	10874450	+	Silent	SNP	C	C	T	rs527620122		TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr6:10874450C>T	ENST00000379491.4	-	5	1446	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	433					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.P433P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGACTGTCACCGGAGGACCCC	0.552																																																1	Substitution - coding silent(1)	ovary(1)	6											44	45	45					6																	10874450		2203	4300	6503	10982436	SO:0001819	synonymous_variant	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1299G>A	6.37:g.10874450C>T			10982436	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	CCDS4517.1																																																																																				0.552	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			T	10874450	C	T	10874450	2	4	309	1	0	0	0	0	0	0	0	1	6298	639	23	1		1	GCM2	6	10874450	Silent	SNP	C	TCGA-25-2042-01A-01W-0799-08		10874450	160240617	21	16599											
GNL1	2794	broad.mit.edu	37	6	30514931	30514931	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr6:30514931G>A	ENST00000376621.3	-	10	2369	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	467					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.P467S(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCCGCTGAGGGGTCCTCAGCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	6											94	100	98					6																	30514931		1511	2708	4219	30622910	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1399C>T	6.37:g.30514931G>A	ENSP00000365806:p.Pro467Ser		30622910	B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411663	0.42817	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.48522	0.81	4.99	4.04	0.47022	.	0.579041	0.17484	N	0.172599	T	0.12390	0.0301	N	0.19112	0.55	0.36319	D	0.858154	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.14671	-1.0464	10	0.13853	T	0.58	-21.5383	5.5565	0.17119	0.1092:0.2049:0.6858:0.0	.	465;264;467	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	S	467;289;264	ENSP00000365806:P467S	ENSP00000365806:P467S	P	-	1	0	GNL1	30622910	0.047000	0.20315	0.969000	0.41365	0.912000	0.54170	0.732000	0.26072	2.592000	0.87571	0.555000	0.69702	CCC		0.632	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			A	30514931	G	A	30514931	3	1	309	1	0	0	0	0	1	0	0	0	6535	1232	43	2	436	2	GNL1	6	30514931	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08	19640481	30514931	140600136	22	16600											
WRN	7486	broad.mit.edu	37	8	30924675	30924675	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr8:30924675C>G	ENST00000298139.5	+	6	880	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	211	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.L211V(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGACCAGAAACTGTATGCAGC	0.343			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	1	Substitution - Missense(1)	ovary(1)	8											77	69	72					8																	30924675		2203	4300	6503	31044217	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.631C>G	8.37:g.30924675C>G	ENSP00000298139:p.Leu211Val		31044217	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254685	0.39896	.	.	ENSG00000165392	ENST00000298139	T	0.64260	-0.09	5.68	1.69	0.24217	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.351767	0.25112	N	0.033048	T	0.48750	0.1517	L	0.43554	1.36	0.23930	N	0.996431	B	0.23591	0.088	B	0.32289	0.143	T	0.42275	-0.9461	10	0.49607	T	0.09	-3.5408	2.0348	0.03537	0.1382:0.4726:0.135:0.2541	.	211	Q14191	WRN_HUMAN	V	211	ENSP00000298139:L211V	ENSP00000298139:L211V	L	+	1	2	WRN	31044217	0.069000	0.21087	0.998000	0.56505	0.997000	0.91878	-0.320000	0.08028	0.748000	0.32831	0.561000	0.74099	CTG		0.343	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			G	30924675	C	G	30924675	3	3	309	1	0	0	0	0	1	0	0	0	17402	564	20	3	649	3	WRN	8	30924675	Missense_Mutation	SNP	C	TCGA-25-2042-01A-01W-0799-08		30924675	115439347	23	16601											
ADAM18	8749	broad.mit.edu	37	8	39502937	39502937	+	Silent	SNP	T	T	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr8:39502937T>C	ENST00000265707.5	+	11	1035	c.990T>C	c.(988-990)gaT>gaC	p.D330D	ADAM18_ENST00000379866.1_Silent_p.D306D|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	330	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D330D(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAACATATGATGACATCACTC	0.323																																																1	Substitution - coding silent(1)	ovary(1)	8											129	116	120					8																	39502937		2203	4300	6503	39622094	SO:0001819	synonymous_variant	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.990T>C	8.37:g.39502937T>C			39622094	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	CCDS6113.1																																																																																				0.323	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		C	39502937	T	C	39502937	2	2	309	1	0	0	0	0	0	0	0	1	239	1461	51	4		4	ADAM18	8	39502937	Silent	SNP	T	TCGA-25-2042-01A-01W-0799-08	8578262	39502937	106861085	24	16602											
RABGAP1	23637	broad.mit.edu	37	9	125746913	125746913	+	Silent	SNP	C	C	G	rs376306008		TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr9:125746913C>G	ENST00000373647.4	+	3	434	c.300C>G	c.(298-300)ctC>ctG	p.L100L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	100					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.L28L(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTAATCAGCTCTCCGCTTCAT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	9											142	111	122					9																	125746913		2203	4300	6503	124786734	SO:0001819	synonymous_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.300C>G	9.37:g.125746913C>G			124786734	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	CCDS6848.2																																																																																				0.502	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		G	125746913	C	G	125746913	2	3	309	1	0	0	0	0	0	0	0	1	12967	900	32	3		3	RABGAP1	9	125746913	Silent	SNP	C	TCGA-25-2042-01A-01W-0799-08		125746913	15466518	25	16603											
ZRANB1	54764	broad.mit.edu	37	10	126673350	126673350	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr10:126673350A>G	ENST00000359653.4	+	9	2287	c.1916A>G	c.(1915-1917)aAt>aGt	p.N639S		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	639	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.N639S(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGCTAGGTAATGAGGAACAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	10											57	56	56					10																	126673350		2203	4300	6503	126663340	SO:0001583	missense	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1916A>G	10.37:g.126673350A>G	ENSP00000352676:p.Asn639Ser		126663340	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	A	3.630	-0.075795	0.07184	.	.	ENSG00000019995	ENST00000359653	T	0.16597	2.33	5.28	5.28	0.74379	.	0.165132	0.51477	D	0.000089	T	0.09113	0.0225	N	0.08118	0	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.18871	-1.0323	10	0.10111	T	0.7	-24.7599	15.3621	0.74487	1.0:0.0:0.0:0.0	.	639	Q9UGI0	ZRAN1_HUMAN	S	639	ENSP00000352676:N639S	ENSP00000352676:N639S	N	+	2	0	ZRANB1	126663340	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.613000	0.67688	2.209000	0.71365	0.533000	0.62120	AAT		0.478	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		G	126673350	A	G	126673350	3	3	309	1	0	0	0	0	1	0	0	0	18222	101	4	4	1950	4	ZRANB1	10	126673350	Missense_Mutation	SNP	A	TCGA-25-2042-01A-01W-0799-08		126673350	8861397	26	16604											
OR51E2	81285	broad.mit.edu	37	11	4703227	4703227	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr11:4703227T>C	ENST00000396950.3	-	2	954	c.715A>G	c.(715-717)Acc>Gcc	p.T239A		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	239					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)	p.T239A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GACACACAGGTTCCAAAGGCC	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											125	103	110					11																	4703227		2201	4298	6499	4659803	SO:0001583	missense	81285			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.715A>G	11.37:g.4703227T>C	ENSP00000380153:p.Thr239Ala		4659803	B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126106	0.56721	.	.	ENSG00000167332	ENST00000396950	T	0.41065	1.01	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.139368	0.32918	N	0.005495	T	0.72415	0.3457	H	0.95780	3.72	0.39939	D	0.974385	P	0.43578	0.811	P	0.60173	0.87	T	0.81353	-0.0971	10	0.87932	D	0	.	13.6154	0.62105	0.0:0.0:0.0:1.0	.	239	Q9H255	O51E2_HUMAN	A	239	ENSP00000380153:T239A	ENSP00000380153:T239A	T	-	1	0	OR51E2	4659803	1.000000	0.71417	0.801000	0.32222	0.614000	0.37383	7.631000	0.83237	2.092000	0.63282	0.533000	0.62120	ACC		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		C	4703227	T	C	4703227	3	2	309	1	0	0	0	0	1	0	0	0	11095	1725	60	4	251	4	OR51E2	11	4703227	Missense_Mutation	SNP	T	TCGA-25-2042-01A-01W-0799-08		4703227	130303289	27	16605											
TMEM86A	144110	broad.mit.edu	37	11	18723200	18723200	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr11:18723200G>T	ENST00000280734.2	+	3	463	c.367G>T	c.(367-369)Gtg>Ttg	p.V123L	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	123						integral component of membrane (GO:0016021)		p.V123L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GACAGGTCTGGTGATGGCAGC	0.597																																																1	Substitution - Missense(1)	ovary(1)	11											99	88	92					11																	18723200		2199	4293	6492	18679776	SO:0001583	missense	144110			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.367G>T	11.37:g.18723200G>T	ENSP00000280734:p.Val123Leu		18679776	Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	G	7.144	0.582475	0.13749	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.19806	2.12	5.03	4.11	0.48088	.	0.342297	0.31847	N	0.006967	T	0.10895	0.0266	N	0.16016	0.355	0.35927	D	0.832233	B	0.02656	0.0	B	0.04013	0.001	T	0.18304	-1.0341	10	0.13108	T	0.6	-12.8537	9.9808	0.41813	0.0734:0.3874:0.5391:0.0	.	123	Q8N2M4	TM86A_HUMAN	L	123	ENSP00000280734:V123L	ENSP00000280734:V123L	V	+	1	0	TMEM86A	18679776	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.828000	0.39111	1.467000	0.48044	0.561000	0.74099	GTG		0.597	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		T	18723200	G	T	18723200	3	4	309	1	0	0	0	0	1	0	0	0	16208	1261	44	3	377	3	TMEM86A	11	18723200	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08	14019973	18723200	116283316	28	16606											
OR5R1	219479	broad.mit.edu	37	11	56185013	56185013	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr11:56185013C>A	ENST00000312253.1	-	1	695	c.696G>T	c.(694-696)caG>caT	p.Q232H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q232H(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGTGTTGCCCCTGAGTAGAGC	0.443																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	11											142	130	134					11																	56185013		2201	4296	6497	55941589	SO:0001583	missense	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.696G>T	11.37:g.56185013C>A	ENSP00000308595:p.Gln232His		55941589		Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329163	0.41197	.	.	ENSG00000174942	ENST00000312253	T	0.00224	8.51	5.53	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.287283	0.18380	U	0.142981	T	0.00178	0.0005	N	0.19112	0.55	0.09310	N	0.999995	P	0.48834	0.916	P	0.50314	0.637	T	0.51505	-0.8697	10	0.72032	D	0.01	-7.7762	5.4787	0.16710	0.1282:0.5868:0.0:0.285	.	232	Q8NH85	OR5R1_HUMAN	H	232	ENSP00000308595:Q232H	ENSP00000308595:Q232H	Q	-	3	2	OR5R1	55941589	0.000000	0.05858	0.675000	0.29917	0.331000	0.28603	0.017000	0.13399	0.676000	0.31285	0.579000	0.79373	CAG		0.443	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		A	56185013	C	A	56185013	3	1	309	1	0	0	0	0	1	0	0	0	11180	680	24	3	280	3	OR5R1	11	56185013	Missense_Mutation	SNP	C	TCGA-25-2042-01A-01W-0799-08	37461813	56185013	78821503	29	16607											
VWA5A	4013	broad.mit.edu	37	11	123989726	123989726	+	Silent	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr11:123989726C>G	ENST00000456829.2	+	7	941	c.690C>G	c.(688-690)ctC>ctG	p.L230L	VWA5A_ENST00000360334.4_Silent_p.L230L|VWA5A_ENST00000392744.4_Silent_p.L246L|VWA5A_ENST00000392748.1_Silent_p.L230L|VWA5A_ENST00000361352.5_Silent_p.L230L|VWA5A_ENST00000449321.1_Silent_p.L230L	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	230								p.L230L(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ACGTGGAACTCCTGATTTACT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	11											147	117	127					11																	123989726		2201	4299	6500	123494936	SO:0001819	synonymous_variant	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.690C>G	11.37:g.123989726C>G			123494936	Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	CCDS8444.1																																																																																				0.478	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		G	123989726	C	G	123989726	2	3	309	1	0	0	0	0	0	0	0	1	17242	842	30	3		3	VWA5A	11	123989726	Silent	SNP	C	TCGA-25-2042-01A-01W-0799-08	67804713	123989726	11016790	30	16608											
CHD4	1108	broad.mit.edu	37	12	6692033	6692033	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr12:6692033C>A	ENST00000357008.2	-	28	4380	c.4217G>T	c.(4216-4218)cGt>cTt	p.R1406L	CHD4_ENST00000544484.1_Missense_Mutation_p.R1431L|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.R1434L|CHD4_ENST00000544040.1_Missense_Mutation_p.R1399L|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1406					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1434L(1)		central_nervous_system(2)	2						CCCACCAACACGGGCCAACAG	0.502																																					Colon(32;586 792 4568 16848 45314)											1	Substitution - Missense(1)	ovary(1)	12											163	166	165					12																	6692033		2203	4300	6503	6562294	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4217G>T	12.37:g.6692033C>A	ENSP00000349508:p.Arg1406Leu		6562294	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398108	0.83120	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92348	-3.02;-2.91;-3.02;-2.91	5.96	5.96	0.96718	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.82323	2.585	0.80722	D	1	D;D;D	0.69078	0.996;0.995;0.997	P;D;D	0.75484	0.891;0.972;0.986	D	0.96272	0.9199	10	0.72032	D	0.01	-5.1401	20.422	0.99049	0.0:1.0:0.0:0.0	.	1434;1406;1399	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	1431;1399;1434;1406;1380	ENSP00000440392:R1431L;ENSP00000440542:R1399L;ENSP00000312419:R1434L;ENSP00000349508:R1406L	ENSP00000312419:R1434L	R	-	2	0	CHD4	6562294	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.461000	0.80834	2.832000	0.97577	0.655000	0.94253	CGT		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6692033	C	A	6692033	3	1	309	1	0	0	0	0	1	0	0	0	3327	536	19	3	1573	3	CHD4	12	6692033	Missense_Mutation	SNP	C	TCGA-25-2042-01A-01W-0799-08		6692033	127159862	31	16609											
NACA	4666	broad.mit.edu	37	12	57115174	57115174	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr12:57115174G>T	ENST00000454682.1	-	3	421	c.140C>A	c.(139-141)cCt>cAt	p.P47H	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P47H|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	47	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCAAGGAGGGGGGAGGGT	0.552			T	BCL6	NHL																																		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0			12											32	30	31					12																	57115174		1568	3582	5150	55401441	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.140C>A	12.37:g.57115174G>T	ENSP00000403817:p.Pro47His		55401441		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	G	8.085	0.773138	0.16051	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.32023	1.47;1.47	3.26	3.26	0.37387	.	.	.	.	.	T	0.27419	0.0673	N	0.08118	0	0.19575	N	0.999963	D;D	0.65815	0.986;0.995	P;P	0.55824	0.575;0.785	T	0.10177	-1.0641	9	0.87932	D	0	.	10.251	0.43368	0.0:0.0:1.0:0.0	.	47;47	E9PAV3;F8VU71	.;.	H	47	ENSP00000403817:P47H;ENSP00000448035:P47H	ENSP00000403817:P47H	P	-	2	0	NACA	55401441	0.986000	0.35501	0.093000	0.20910	0.131000	0.20780	2.679000	0.46909	1.849000	0.53698	0.456000	0.33151	CCT		0.552	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		T	57115174	G	T	57115174	3	4	309	1	0	0	0	0	1	0	0	0	10133	1000	35	3	6124	3	NACA	12	57115174	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08	50423141	57115174	76736721	32	16610											
FREM2	341640	broad.mit.edu	37	13	39262931	39262931	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr13:39262931G>A	ENST00000280481.7	+	1	1666	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	484					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V484M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTAGAGGTGGTGGCTGGGCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	13											42	44	43					13																	39262931		2203	4300	6503	38160931	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1450G>A	13.37:g.39262931G>A	ENSP00000280481:p.Val484Met		38160931	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.581871	0.28180	.	.	ENSG00000150893	ENST00000280481	T	0.23950	1.88	5.4	5.4	0.78164	.	0.197379	0.46145	D	0.000312	T	0.23965	0.0580	L	0.55481	1.735	0.43965	D	0.996642	B	0.28439	0.212	B	0.25140	0.058	T	0.04976	-1.0914	10	0.54805	T	0.06	.	9.205	0.37285	0.0766:0.1472:0.7762:0.0	.	484	Q5SZK8	FREM2_HUMAN	M	484	ENSP00000280481:V484M	ENSP00000280481:V484M	V	+	1	0	FREM2	38160931	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	1.134000	0.31442	2.538000	0.85594	0.561000	0.74099	GTG		0.612	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39262931	G	A	39262931	3	1	309	1	0	0	0	0	1	0	0	0	6045	1261	44	2	1452	2	FREM2	13	39262931	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08		39262931	75906947	33	16611											
ZBTB25	7597	broad.mit.edu	37	14	64954742	64954742	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr14:64954742T>G	ENST00000608382.1	-	3	398	c.207A>C	c.(205-207)caA>caC	p.Q69H	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000394715.1_Missense_Mutation_p.Q69H	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q69H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		ATATGTCAGGTTGGATGTCAG	0.393																																																1	Substitution - Missense(1)	ovary(1)	14											74	66	69					14																	64954742		2203	4300	6503	64024495	SO:0001583	missense	7597			X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13112	protein-coding gene	gene with protein product		194541	"zinc finger protein 46 (KUP)", "chromosome 14 open reading frame 51"	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.207A>C	14.37:g.64954742T>G	ENSP00000476746:p.Gln69His		64024495	B3KUX6|Q8IYH9	Missense_Mutation	SNP	ENST00000608382.1	37	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.432338	0.62844	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	T;T	0.22134	1.97;1.97	5.92	-7.13	0.01532	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	L	0.43757	1.38	0.51233	D	0.999914	D	0.89917	1.0	D	0.91635	0.999	T	0.46373	-0.9196	10	0.51188	T	0.08	-14.1568	23.2312	0.99981	0.0:0.802:0.0:0.198	.	69	P24278	ZBT25_HUMAN	H	69	ENSP00000261683:Q69H;ENSP00000378204:Q69H	ENSP00000261683:Q69H	Q	-	3	2	ZBTB25	64024495	0.056000	0.20664	0.508000	0.27688	0.996000	0.88848	-0.617000	0.05584	-1.801000	0.01245	0.459000	0.35465	CAA		0.393	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		G	64954742	T	G	64954742	3	3	309	1	0	0	0	0	1	0	0	0	17532	1722	60	5	1104	5	ZBTB25	14	64954742	Missense_Mutation	SNP	T	TCGA-25-2042-01A-01W-0799-08		64954742	42394798	34	16612											
DYNC1H1	1778	broad.mit.edu	37	14	102461589	102461589	+	Silent	SNP	T	T	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr14:102461589T>C	ENST00000360184.4	+	15	3680	c.3516T>C	c.(3514-3516)taT>taC	p.Y1172Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1172	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.Y1172Y(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCATCACCTATGTGCAGTCTT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	14											181	181	181					14																	102461589		2203	4300	6503	101531342	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3516T>C	14.37:g.102461589T>C			101531342	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		C	102461589	T	C	102461589	2	2	309	1	0	0	0	0	0	0	0	1	4841	1471	51	4		4	DYNC1H1	14	102461589	Silent	SNP	T	TCGA-25-2042-01A-01W-0799-08	37506847	102461589	4887951	35	16613											
CATSPER2	117155	broad.mit.edu	37	15	43940168	43940168	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr15:43940168T>A	ENST00000321596.5	-	2	291	c.92A>T	c.(91-93)cAt>cTt	p.H31L	CATSPER2_ENST00000464721.1_Intron|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.H37L|CATSPER2_ENST00000396879.1_Missense_Mutation_p.H31L|CATSPER2_ENST00000355438.2_Missense_Mutation_p.H31L|CATSPER2_ENST00000354127.4_Missense_Mutation_p.H31L			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	31					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.H31L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCCTTGCAAATGCTCAATGAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	15											183	181	182					15																	43940168		2199	4296	6495	41727460	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.92A>T	15.37:g.43940168T>A	ENSP00000321463:p.His31Leu		41727460	Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706661	0.30232	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438;ENST00000432420;ENST00000409481;ENST00000419473	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	2.64	2.64	0.31445	.	2.597920	0.01853	N	0.036089	T	0.44138	0.1279	M	0.73598	2.24	0.32017	N	0.601232	B;B;B	0.33044	0.395;0.147;0.091	B;B;B	0.37267	0.245;0.073;0.033	T	0.41770	-0.9490	10	0.31617	T	0.26	.	7.0877	0.25267	0.0:0.0:0.0:1.0	.	31;37;31	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	L	31;31;37;31;31;31;31;31;31	ENSP00000380088:H31L;ENSP00000371180:H37L;ENSP00000321463:H31L;ENSP00000339137:H31L;ENSP00000347613:H31L;ENSP00000407694:H31L;ENSP00000386595:H31L	ENSP00000299989:H31L	H	-	2	0	CATSPER2	41727460	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.580000	0.53907	1.219000	0.43474	0.155000	0.16302	CAT		0.473	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		A	43940168	T	A	43940168	3	1	309	1	0	0	0	0	1	0	0	0	2688	1464	51	5	1587	5	CATSPER2	15	43940168	Missense_Mutation	SNP	T	TCGA-25-2042-01A-01W-0799-08		43940168	58591224	36	16614											
IGDCC3	9543	broad.mit.edu	37	15	65624296	65624296	+	Silent	SNP	C	C	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr15:65624296C>T	ENST00000327987.4	-	7	1382	c.1131G>A	c.(1129-1131)agG>agA	p.R377R	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	377	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.R377R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATTCTTGAGCCTGACGTGGC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	15											103	91	95					15																	65624296		2201	4299	6500	63411349	SO:0001819	synonymous_variant	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1131G>A	15.37:g.65624296C>T			63411349	O95215	Silent	SNP	ENST00000327987.4	37	CCDS10205.1																																																																																				0.607	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		T	65624296	C	T	65624296	2	4	309	1	0	0	0	0	0	0	0	1	7568	738	26	2		2	IGDCC3	15	65624296	Silent	SNP	C	TCGA-25-2042-01A-01W-0799-08	21684128	65624296	36907096	37	16615											
SYNM	23336	broad.mit.edu	37	15	99671917	99671917	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr15:99671917G>C	ENST00000560674.1	+	4	2963	c.2494G>C	c.(2494-2496)Gag>Cag	p.E832Q	SYNM_ENST00000328642.7_Missense_Mutation_p.E1117Q|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.E1117Q			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1118	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.E1117Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACAGGTGCTGGAGGATGTGAG	0.612																																					Pancreas(125;1071 1762 21750 40003 40381)											1	Substitution - Missense(1)	ovary(1)	15											22	25	24					15																	99671917		2100	4231	6331	97489440	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2494G>C	15.37:g.99671917G>C	ENSP00000453040:p.Glu832Gln		97489440	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	G	16.55	3.153585	0.57259	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.83992	-1.79;-1.78	5.32	5.32	0.75619	.	.	.	.	.	D	0.89677	0.6784	.	.	.	0.31585	N	0.654587	D;D	0.76494	0.999;0.998	D;P	0.71184	0.972;0.895	D	0.89618	0.3846	8	0.66056	D	0.02	.	11.6608	0.51345	0.0846:0.0:0.9154:0.0	.	1118;1117	O15061;C9JIE4	SYNEM_HUMAN;.	Q	1117	ENSP00000336775:E1117Q;ENSP00000330469:E1117Q	ENSP00000330469:E1117Q	E	+	1	0	SYNM	97489440	0.935000	0.31712	0.998000	0.56505	0.571000	0.35966	1.875000	0.39578	2.463000	0.83235	0.655000	0.94253	GAG		0.612	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		C	99671917	G	C	99671917	3	2	309	1	0	0	0	0	1	0	0	0	15455	1175	41	3	3365	3	SYNM	15	99671917	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08	34047621	99671917	2859475	38	16616											
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	T	rs267605076		TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr17:7578177C>T	ENST00000269305.4	-	6	861	c.672G>A	c.(670-672)gaG>gaA	p.E224E	TP53_ENST00000413465.2_Splice_Site_p.E224E|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site_p.E224E|TP53_ENST00000455263.2_Splice_Site_p.E224E|TP53_ENST00000445888.2_Splice_Site_p.E224E|TP53_ENST00000420246.2_Splice_Site_p.E224E	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAAACCAGACCTCAGGCGGCT	0.532		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"	61	Substitution - Missense(23)|Substitution - coding silent(14)|Unknown(13)|Whole gene deletion(8)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)	lung(23)|large_intestine(7)|bone(6)|biliary_tract(5)|endometrium(5)|oesophagus(3)|breast(3)|stomach(2)|central_nervous_system(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	17											81	76	78					17																	7578177		2203	4300	6503	7518902	SO:0001630	splice_region_variant	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.672+1G>A	17.37:g.7578177C>T			7518902	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	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																				0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	T	7578177	C	T	7578177	5	4	309	1	0	0	0	0	0	0	1	0	16381	695	24	2	622	2	TP53	17	7578177	Splice_Site	SNP	C	TCGA-25-2042-01A-01W-0799-08		7578177	73617033	39	16617											
DMKN	93099	broad.mit.edu	37	19	36002362	36002412	+	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	rs112672248|rs142519211|rs144877871|rs544198244|rs199498909|rs11667007|rs12981076|rs146822312|rs148799704|rs138902616|rs56743379|rs140071083|rs371511253|rs117522133|rs59309505|rs113540509|rs111543270|rs58579970|rs201369392	byFrequency	TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	-	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENST00000339686.3	-	5	995_1045	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	c.(817-870)agcagtggcagcagcagtggcggcagcagtggcggcagcagtggtggcagcagt>agt	p.273_290SSGSSSGGSSGGSSGGSS>S	DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000440396.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000424570.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000451297.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000418261.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000447113.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000474928.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.		G -> S (in dbSNP:rs11667007). {ECO:0000269|PubMed:17380110}.	G -> GSSSG (in Ref. 4; AAQ88778). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac	0.641																																																1	Deletion - In frame(1)	ovary(1)	19							,,,,,,	1051,3093		133,785,1154					,,,,,,	-3.2	0		dbSNP_130	28	1360,6640		184,992,2824	no	coding,coding,coding,intron,coding,coding,intron	DMKN	NM_033317.4,NM_001190349.1,NM_001190348.1,NM_001190347.1,NM_001126058.2,NM_001126057.2,NM_001126056.2	,,,,,,	317,1777,3978	A1A1,A1R,RR		17.0,25.362,19.8534	,,,,,,	,,,,,,		2411,9733				40694252	SO:0001651	inframe_deletion	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	19.37:g.36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENSP00000342012:p.Ser273_Ser289del		40694202	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	In_Frame_Del	DEL	ENST00000339686.3	37	CCDS12463.1																																																																																				0.641	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		-	36002412	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	36002362	7	5	309	1	0	1	0	1	0	0	0	0	4582	565	20	0	926	0	DMKN	19	36002362	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	TCGA-25-2042-01A-01W-0799-08		36002362	23126621	40	16618											
PSG4	5672	broad.mit.edu	37	19	43702148	43702148	+	Splice_Site	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr19:43702148C>G	ENST00000405312.3	-	3	947		c.e3+1		PSG4_ENST00000244295.9_Splice_Site|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4						female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGATACTCACGGAGGAGATT	0.527																																																1	Unknown(1)	ovary(1)	19											39	46	44					19																	43702148		2108	4239	6347	48393988	SO:0001630	splice_region_variant	5672				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.709+1G>C	19.37:g.43702148C>G			48393988	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Splice_Site	SNP	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	C	2.854	-0.237699	0.05944	.	.	ENSG00000243137	ENST00000244295;ENST00000405312	.	.	.	1.96	0.858	0.19030	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4947	0.11831	0.0:0.7864:0.0:0.2136	.	.	.	.	.	-1	.	.	.	-	.	.	PSG4	48393988	0.171000	0.23029	0.017000	0.16124	0.007000	0.05969	0.119000	0.15626	0.170000	0.19704	-0.482000	0.04802	.		0.527	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633	Intron	G	43702148	C	G	43702148	5	3	309	1	0	0	0	0	0	0	1	0	12660	550	19	3	565	3	PSG4	19	43702148	Splice_Site	SNP	C	TCGA-25-2042-01A-01W-0799-08	7699786	43702148	15426835	41	16619											
BMX	660	broad.mit.edu	37	X	15548148	15548148	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chrX:15548148A>C	ENST00000357607.2	+	10	1125	c.937A>C	c.(937-939)Aag>Cag	p.K313Q	BMX_ENST00000348343.6_Missense_Mutation_p.K313Q|BMX_ENST00000342014.6_Missense_Mutation_p.K313Q			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	313	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.K313Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACTCAGACAAAAGGTAAATAG	0.358																																																1	Substitution - Missense(1)	ovary(1)	X											82	75	78					X																	15548148		2203	4300	6503	15458069	SO:0001583	missense	660			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.937A>C	X.37:g.15548148A>C	ENSP00000350224:p.Lys313Gln		15458069	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759832	0.69763	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.88741	-2.42;-2.42;-2.42	5.03	5.03	0.67393	SH2 motif (4);	0.216848	0.32952	N	0.005442	D	0.88217	0.6377	N	0.16862	0.45	0.36802	D	0.88541	D	0.76494	0.999	D	0.65874	0.939	D	0.90832	0.4717	10	0.62326	D	0.03	.	11.3538	0.49605	1.0:0.0:0.0:0.0	.	313	P51813	BMX_HUMAN	Q	313	ENSP00000350224:K313Q;ENSP00000308774:K313Q;ENSP00000340082:K313Q	ENSP00000340082:K313Q	K	+	1	0	BMX	15458069	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	1.765000	0.52091	0.486000	0.48141	AAG		0.358	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		C	15548148	A	C	15548148	3	2	309	1	0	0	0	0	1	0	0	0	1473	15	1	5	971	5	BMX	23	15548148	Missense_Mutation	SNP	A	TCGA-25-2042-01A-01W-0799-08		15548148	139722412	42	16620											
GPR50	9248	broad.mit.edu	37	X	150348554	150348554	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chrX:150348554G>T	ENST00000218316.3	+	2	568	c.499G>T	c.(499-501)Ggc>Tgc	p.G167C	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	167					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.G167C(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATGTACATTGGCACCATCGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	X											193	174	180					X																	150348554		2199	4290	6489	150099212	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.499G>T	X.37:g.150348554G>T	ENSP00000218316:p.Gly167Cys		150099212	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954798	0.53293	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.40756	1.02	4.32	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.102201	0.64402	D	0.000002	T	0.70518	0.3233	H	0.95574	3.69	0.43107	D	0.9948	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.76055	-0.3099	10	0.45353	T	0.12	-18.8558	9.9231	0.41476	0.1129:0.0:0.8871:0.0	.	120;167	F5H1S3;Q13585	.;MTR1L_HUMAN	C	120;167	ENSP00000218316:G167C	ENSP00000218316:G167C	G	+	1	0	GPR50	150099212	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	5.579000	0.67457	1.898000	0.54952	0.523000	0.50628	GGC		0.527	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		T	150348554	G	T	150348554	3	4	309	1	0	0	0	0	1	0	0	0	6697	1348	47	3	505	3	GPR50	23	150348554	Missense_Mutation	SNP	G	TCGA-25-2042-01A-01W-0799-08	134800406	150348554	4922006	43	16621											
RASA1	5921	broad.mit.edu	37	5	86672296	86672296	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2391-01A-01W-0799-08	TCGA-25-2391-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	c0c3b0ea-66dd-4bd4-8ff4-c0a27aaa0767	7453f168-9b58-4675-be27-789fd67654a6	g.chr5:86672296G>T	ENST00000274376.6	+	16	2662	c.2098G>T	c.(2098-2100)Ggt>Tgt	p.G700C	RASA1_ENST00000456692.2_Missense_Mutation_p.G523C|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.G533C|RASA1_ENST00000506290.1_Missense_Mutation_p.G534C	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	700					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.G700C(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACCATTAAAAGGTATTGAACC	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											100	96	98					5																	86672296		2203	4300	6503	86708052	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2098G>T	5.37:g.86672296G>T	ENSP00000274376:p.Gly700Cys		86708052	B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707241	0.89018	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.54	5.54	0.83059	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.098719	0.64402	D	0.000001	T	0.79021	0.4376	L	0.53249	1.67	0.80722	D	1	D;P;D;D;D	0.65815	0.99;0.94;0.964;0.994;0.995	P;P;P;P;P	0.55999	0.711;0.502;0.502;0.789;0.784	T	0.80795	-0.1223	10	0.87932	D	0	.	19.4767	0.94992	0.0:0.0:1.0:0.0	.	534;533;534;523;700	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	C	700;733;523;533;534	ENSP00000274376:G700C;ENSP00000411221:G523C;ENSP00000422008:G533C;ENSP00000420905:G534C	ENSP00000274376:G700C	G	+	1	0	RASA1	86708052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.601000	0.87937	0.563000	0.77884	GGT		0.408	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		T	86672296	G	T	86672296	3	4	310	1	0	0	0	0	1	0	0	0	13063	1000	35	3	2172	3	RASA1	5	86672296	Missense_Mutation	SNP	G	TCGA-25-2391-01A-01W-0799-08		86672296	94242964	1	16622											
SYNC	81493	broad.mit.edu	37	1	33160554	33160554	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:33160554G>A	ENST00000409190.3	-	2	1603	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	SYNC_ENST00000373484.3_Missense_Mutation_p.A382V	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	382	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)	p.A51V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGCTGCCGGGCCTCTGCTTG	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											140	145	143					1																	33160554		2203	4300	6503	32933141	SO:0001583	missense	81493			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"Intermediate filaments type III"	28897	protein-coding gene	gene with protein product		611750	"syncoilin, intermediate filament 1"	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1145C>T	1.37:g.33160554G>A	ENSP00000386439:p.Ala382Val		32933141	B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	CCDS367.2	.	.	.	.	.	.	.	.	.	.	g	0.017	-1.490831	0.01018	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.87491	-2.26;-2.26	4.0	2.08	0.27032	Filament (1);	0.592265	0.17165	N	0.184514	T	0.63331	0.2502	N	0.02539	-0.55	0.21064	N	0.999794	P;P	0.42785	0.565;0.79	B;B	0.37833	0.107;0.259	T	0.60737	-0.7204	10	0.11182	T	0.66	-0.0101	7.0432	0.25031	0.304:0.0:0.696:0.0	.	382;382	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	V	382	ENSP00000362583:A382V;ENSP00000386439:A382V	ENSP00000362583:A382V	A	-	2	0	SYNC	32933141	1.000000	0.71417	0.976000	0.42696	0.032000	0.12392	1.983000	0.40648	0.830000	0.34757	-0.320000	0.08662	GCC		0.572	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		A	33160554	G	A	33160554	3	1	311	1	0	0	0	0	1	0	0	0	15443	1203	42	2	381	2	SYNC	1	33160554	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08		33160554	216090067	1	16623											
FOXJ3	22887	broad.mit.edu	37	1	42671457	42671457	+	Silent	SNP	C	C	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:42671457C>T	ENST00000372572.1	-	8	917	c.606G>A	c.(604-606)ctG>ctA	p.L202L	FOXJ3_ENST00000361776.1_Intron|FOXJ3_ENST00000545068.1_Silent_p.L202L|FOXJ3_ENST00000372573.1_Silent_p.L202L|FOXJ3_ENST00000361346.1_Silent_p.L202L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	202					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L202L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGTTGATTGCCAGAGTTGGAG	0.313																																																1	Substitution - coding silent(1)	ovary(1)	1											90	85	87					1																	42671457		2203	4300	6503	42444044	SO:0001819	synonymous_variant	22887			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.606G>A	1.37:g.42671457C>T			42444044	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	CCDS30689.1																																																																																				0.313	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		T	42671457	C	T	42671457	2	4	311	1	0	0	0	0	0	0	0	1	6013	581	21	2		2	FOXJ3	1	42671457	Silent	SNP	C	TCGA-25-2392-01A-01W-0799-08	9510903	42671457	206579164	2	16624											
ZMYND12	84217	broad.mit.edu	37	1	42915696	42915696	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:42915696T>G	ENST00000372565.3	-	2	414	c.145A>C	c.(145-147)Atc>Ctc	p.I49L	ZMYND12_ENST00000433602.2_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	49						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.I49L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCTCATGGATGCTGTCCCAG	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											149	130	136					1																	42915696		2203	4300	6503	42688283	SO:0001583	missense	84217			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.145A>C	1.37:g.42915696T>G	ENSP00000361646:p.Ile49Leu		42688283	Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	CCDS467.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249746	0.80024	.	.	ENSG00000066185	ENST00000372565	T	0.52295	0.67	5.47	5.47	0.80525	Zinc finger, MYND-type (2);	0.000000	0.85682	D	0.000000	T	0.63046	0.2478	L	0.55481	1.735	0.80722	D	1	D	0.58620	0.983	D	0.73708	0.981	T	0.64313	-0.6437	10	0.54805	T	0.06	-17.6194	13.4904	0.61390	0.0:0.0:0.0:1.0	.	49	Q9H0C1	ZMY12_HUMAN	L	49	ENSP00000361646:I49L	ENSP00000361646:I49L	I	-	1	0	ZMYND12	42688283	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.193000	0.58385	2.081000	0.62600	0.260000	0.18958	ATC		0.468	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		G	42915696	T	G	42915696	3	3	311	1	0	0	0	0	1	0	0	0	17707	1464	51	5	980	5	ZMYND12	1	42915696	Missense_Mutation	SNP	T	TCGA-25-2392-01A-01W-0799-08	244239	42915696	206334925	3	16625											
C1orf50	79078	broad.mit.edu	37	1	43240417	43240417	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:43240417G>T	ENST00000372525.5	+	4	335	c.292G>T	c.(292-294)Gat>Tat	p.D98Y	C1orf50_ENST00000468913.2_3'UTR|RP5-994D16.9_ENST00000447572.1_RNA|C1orf50_ENST00000536543.1_5'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	98								p.D98Y(1)		large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGTACTGGAAGATGCTCACAG	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											140	136	137					1																	43240417		2203	4300	6503	43013004	SO:0001583	missense	79078			BC001711	CCDS473.1	1p34.2	2012-06-25			ENSG00000164008	ENSG00000164008			28795	protein-coding gene	gene with protein product						12477932	Standard	NM_024097		Approved	MGC955	uc001cia.4	Q9BV19	OTTHUMG00000007568	ENST00000372525.5:c.292G>T	1.37:g.43240417G>T	ENSP00000361603:p.Asp98Tyr		43013004		Missense_Mutation	SNP	ENST00000372525.5	37	CCDS473.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096790	0.76870	.	.	ENSG00000164008	ENST00000372525	T	0.49720	0.77	6.17	6.17	0.99709	.	0.153836	0.56097	D	0.000025	T	0.69106	0.3074	M	0.72118	2.19	0.22066	N	0.999381	D	0.76494	0.999	D	0.71184	0.972	T	0.69499	-0.5129	9	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	98	Q9BV19	CA050_HUMAN	Y	98	ENSP00000361603:D98Y	ENSP00000361603:D98Y	D	+	1	0	C1orf50	43013004	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	9.219000	0.95173	2.941000	0.99782	0.655000	0.94253	GAT		0.393	C1orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020001.2	NM_024097		T	43240417	G	T	43240417	3	4	311	1	0	0	0	0	1	0	0	0	2042	942	33	3	306	3	C1orf50	1	43240417	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	324721	43240417	206010204	4	16626											
IPP	3652	broad.mit.edu	37	1	46180037	46180037	+	Missense_Mutation	SNP	T	T	C	rs572992251		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:46180037T>C	ENST00000396478.3	-	8	1513	c.1411A>G	c.(1411-1413)Atg>Gtg	p.M471V	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	471						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.M471V(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTGGTTCCCATTGGAGGAAGT	0.428													T|||	1	0.000199681	0	0	5008	,	,		19080	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	1											112	95	101					1																	46180037		2203	4300	6503	45952625	SO:0001583	missense	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1411A>G	1.37:g.46180037T>C	ENSP00000379739:p.Met471Val		45952625	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.866507	0.72065	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	D;D	0.84146	-1.81;-1.81	4.92	4.92	0.64577	Galactose oxidase, beta-propeller (1);	0.075290	0.85682	D	0.000000	D	0.93006	0.7774	M	0.89601	3.045	0.80722	D	1	D;P	0.60575	0.988;0.897	D;P	0.65573	0.936;0.816	D	0.94424	0.7643	10	0.87932	D	0	.	14.5442	0.68017	0.0:0.0:0.0:1.0	.	471;471	Q9Y573;A2A6V3	IPP_HUMAN;.	V	471	ENSP00000353024:M471V;ENSP00000379739:M471V	ENSP00000353024:M471V	M	-	1	0	IPP	45952625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.063000	0.76714	1.825000	0.53177	0.454000	0.30748	ATG		0.428	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		C	46180037	T	C	46180037	3	2	311	1	0	0	0	0	1	0	0	0	7800	1493	52	4	453	4	IPP	1	46180037	Missense_Mutation	SNP	T	TCGA-25-2392-01A-01W-0799-08	2939620	46180037	203070584	5	16627											
MAST2	23139	broad.mit.edu	37	1	46290198	46290198	+	Missense_Mutation	SNP	C	C	G	rs369038713		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:46290198C>G	ENST00000361297.2	+	2	554	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V	MAST2_ENST00000372009.2_Missense_Mutation_p.L91V	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.L91V(2)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TCAGCGACAACTGAGTCAGGA	0.408																																																2	Substitution - Missense(2)	ovary(2)	1											165	148	153					1																	46290198		1852	4092	5944	46062785	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.271C>G	1.37:g.46290198C>G	ENSP00000354671:p.Leu91Val		46062785		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444289	0.83993	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.78707	-1.03;-1.2	5.39	5.39	0.77823	.	0.000000	0.40728	N	0.001023	D	0.83889	0.5352	L	0.49778	1.585	0.35009	D	0.756725	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	D	0.87162	0.2215	10	0.45353	T	0.12	-4.4784	13.4612	0.61229	0.0:0.925:0.0:0.075	.	91;91	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	V	91	ENSP00000354671:L91V;ENSP00000361079:L91V	ENSP00000354671:L91V	L	+	1	2	MAST2	46062785	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.203000	0.51075	2.532000	0.85374	0.655000	0.94253	CTG		0.408	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		G	46290198	C	G	46290198	3	3	311	1	0	0	0	0	1	0	0	0	9325	564	20	3	277	3	MAST2	1	46290198	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	110161	46290198	202960423	6	16628											
JAK1	3716	broad.mit.edu	37	1	65323363	65323363	+	Silent	SNP	G	G	A	rs55788790		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:65323363G>A	ENST00000342505.4	-	10	1682	c.1434C>T	c.(1432-1434)acC>acT	p.T478T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	478	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.T478T(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGCAGGTGACGGTCATGAGGA	0.542			Mis		ALL								G|||	1	0.000199681	0	0	5008	,	,		20480	0.001		0	False		,,,				2504	0						Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	1	Substitution - coding silent(1)	ovary(1)	1											105	107	107					1																	65323363		2103	4233	6336	65095951	SO:0001819	synonymous_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1434C>T	1.37:g.65323363G>A			65095951	Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	CCDS41346.1																																																																																				0.542	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		A	65323363	G	A	65323363	2	1	311	1	0	0	0	0	0	0	0	1	7937	1103	39	1		1	JAK1	1	65323363	Silent	SNP	G	TCGA-25-2392-01A-01W-0799-08	19033165	65323363	183927258	7	16629											
PTGFR	5737	broad.mit.edu	37	1	78959186	78959186	+	Missense_Mutation	SNP	C	C	T	rs145816454		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:78959186C>T	ENST00000370757.3	+	2	995	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PTGFR_ENST00000370758.1_Missense_Mutation_p.A253V|PTGFR_ENST00000370756.3_Missense_Mutation_p.A253V	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	253					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.A253V(2)|p.A253E(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CAGCTCCTGGCGATAATGTGT	0.393													C|||	1	0.000199681	0	0	5008	,	,		20042	0		0	False		,,,				2504	0.001															4	Substitution - Missense(4)	ovary(2)|lung(2)	1						C	VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	52	50	51		758,758	4.8	0.9	1	dbSNP_134	51	0,8600		0,0,4300	no	missense,missense	PTGFR	NM_000959.3,NM_001039585.1	64,64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	253/360,253/298	78959186	2,13004	2203	4300	6503	78731774	SO:0001583	missense	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.758C>T	1.37:g.78959186C>T	ENSP00000359793:p.Ala253Val		78731774	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433742	0.25813	4.54E-4	0.0	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.33654	1.4;1.4;1.4	5.7	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.177888	0.49305	D	0.000145	T	0.10637	0.0260	L	0.31065	0.9	0.42019	D	0.990974	P;P	0.46987	0.749;0.888	B;B	0.34138	0.108;0.176	T	0.05632	-1.0873	10	0.08837	T	0.75	-5.1067	17.0929	0.86627	0.0:0.866:0.134:0.0	.	253;253	P43088;P43088-2	PF2R_HUMAN;.	V	253	ENSP00000359794:A253V;ENSP00000359793:A253V;ENSP00000359792:A253V	ENSP00000359792:A253V	A	+	2	0	PTGFR	78731774	0.978000	0.34361	0.901000	0.35422	0.251000	0.25915	2.473000	0.45145	1.532000	0.49169	0.655000	0.94253	GCG		0.393	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		T	78959186	C	T	78959186	3	4	311	1	0	0	0	0	1	0	0	0	12752	768	27	1	760	1	PTGFR	1	78959186	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	13635823	78959186	170291435	8	16630											
SYPL2	284612	broad.mit.edu	37	1	110019431	110019431	+	Silent	SNP	C	C	T	rs193098034	byFrequency	TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:110019431C>T	ENST00000369872.3	+	4	504	c.288C>T	c.(286-288)tgC>tgT	p.C96C	SYPL2_ENST00000401021.3_Silent_p.C96C|SYPL2_ENST00000475497.1_3'UTR	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	96	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.C96C(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGCCCCTCTGCGATGAAGAGT	0.567													C|||	6	0.00119808	0	0	5008	,	,		17381	0.006		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1											69	74	72					1																	110019431		2043	4184	6227	109820954	SO:0001819	synonymous_variant	284612			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"mitsugumin-29"					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.288C>T	1.37:g.110019431C>T			109820954	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP	ENST00000369872.3	37	CCDS41365.1																																																																																				0.567	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		T	110019431	C	T	110019431	2	4	311	1	0	0	0	0	0	0	0	1	15463	776	27	1		1	SYPL2	1	110019431	Silent	SNP	C	TCGA-25-2392-01A-01W-0799-08	31060245	110019431	139231190	9	16631											
PLEKHA6	22874	broad.mit.edu	37	1	204236637	204236637	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:204236637G>C	ENST00000272203.3	-	5	562	c.246C>G	c.(244-246)ttC>ttG	p.F82L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	82	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.F82L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCACCAGGACGAACCAGCGCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											115	87	97					1																	204236637		2203	4300	6503	202503260	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.246C>G	1.37:g.204236637G>C	ENSP00000272203:p.Phe82Leu		202503260	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076770	0.55753	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.21191	2.02;2.02	5.51	0.667	0.17907	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	M	0.91612	3.225	0.58432	D	0.999995	D	0.60575	0.988	D	0.76575	0.988	T	0.53739	-0.8396	10	0.62326	D	0.03	-25.6828	9.9346	0.41543	0.5696:0.0:0.4304:0.0	.	82	Q9Y2H5	PKHA6_HUMAN	L	82	ENSP00000272203:F82L;ENSP00000402046:F82L	ENSP00000272203:F82L	F	-	3	2	PLEKHA6	202503260	0.477000	0.25909	1.000000	0.80357	0.990000	0.78478	-0.335000	0.07873	0.208000	0.20626	0.549000	0.68633	TTC		0.587	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		C	204236637	G	C	204236637	3	2	311	1	0	0	0	0	1	0	0	0	12060	1049	37	3	2972	3	PLEKHA6	1	204236637	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	94217206	204236637	45013984	10	16632											
PROX1	5629	broad.mit.edu	37	1	214171443	214171443	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:214171443C>G	ENST00000366958.4	+	2	2173	c.1565C>G	c.(1564-1566)aCg>aGg	p.T522R	PROX1_ENST00000435016.1_Missense_Mutation_p.T522R|PROX1_ENST00000498508.2_Missense_Mutation_p.T522R|PROX1_ENST00000261454.4_Missense_Mutation_p.T522R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	522					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.T522R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGGGATACCACGAGTCTGAGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											97	100	99					1																	214171443		2203	4300	6503	212238066	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1565C>G	1.37:g.214171443C>G	ENSP00000355925:p.Thr522Arg		212238066	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191507	0.58017	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.46819	0.87;0.86;0.87;0.87	5.71	5.71	0.89125	.	0.045241	0.85682	D	0.000000	T	0.61714	0.2369	M	0.61703	1.905	0.80722	D	1	P	0.43519	0.809	P	0.51701	0.677	T	0.59643	-0.7416	10	0.49607	T	0.09	-3.8498	19.8546	0.96752	0.0:1.0:0.0:0.0	.	522	Q92786	PROX1_HUMAN	R	94;522;522;522;522	ENSP00000420283:T522R;ENSP00000355925:T522R;ENSP00000400694:T522R;ENSP00000261454:T522R	ENSP00000261454:T522R	T	+	2	0	PROX1	212238066	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	6.070000	0.71220	2.697000	0.92050	0.655000	0.94253	ACG		0.552	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		G	214171443	C	G	214171443	3	3	311	1	0	0	0	0	1	0	0	0	12563	536	19	3	1567	3	PROX1	1	214171443	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	9934806	214171443	35079178	11	16633											
USH2A	7399	broad.mit.edu	37	1	215932065	215932065	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:215932065C>G	ENST00000307340.3	-	58	11647	c.11261G>C	c.(11260-11262)gGa>gCa	p.G3754A	USH2A_ENST00000366943.2_Missense_Mutation_p.G3754A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3754	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G3754A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGCCACCTCCAGTTTTGAC	0.353										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											132	130	131					1																	215932065		2203	4300	6503	213998688	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11261G>C	1.37:g.215932065C>G	ENSP00000305941:p.Gly3754Ala		213998688	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	4.821	0.152725	0.09185	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52983	0.64;0.64	5.58	0.413	0.16401	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.185290	0.26321	U	0.025049	T	0.26376	0.0644	L	0.28556	0.865	0.27627	N	0.948167	P	0.44690	0.841	B	0.35182	0.197	T	0.30446	-0.9978	10	0.16896	T	0.51	.	9.8896	0.41283	0.0:0.6058:0.0:0.3942	.	3754	O75445	USH2A_HUMAN	A	3754	ENSP00000305941:G3754A;ENSP00000355910:G3754A	ENSP00000305941:G3754A	G	-	2	0	USH2A	213998688	0.768000	0.28519	0.928000	0.36995	0.950000	0.60333	0.131000	0.15870	0.056000	0.16144	0.586000	0.80456	GGA		0.353	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	215932065	C	G	215932065	3	3	311	1	0	0	0	0	1	0	0	0	17036	855	30	3	4407	3	USH2A	1	215932065	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	1760622	215932065	33318556	12	16634											
ZNF238	10472	broad.mit.edu	37	1	244218271	244218271	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr1:244218271A>T	ENST00000358704.4	+	2	1344	c.1195A>T	c.(1195-1197)Agc>Tgc	p.S399C		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	390	Interaction with DNMT3A.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S390C(1)									GATCCACCTGAGCACGCACTT	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											54	53	53					1																	244218271		2203	4300	6503	242284894	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1195A>T	1.37:g.244218271A>T	ENSP00000351539:p.Ser399Cys		242284894	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480083	0.63849	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.36878	1.23	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	T	0.58634	-0.7602	10	0.72032	D	0.01	.	16.2159	0.82217	1.0:0.0:0.0:0.0	.	390;399	Q99592;Q99592-2	ZN238_HUMAN;.	C	399	ENSP00000351539:S399C	ENSP00000351539:S399C	S	+	1	0	ZNF238	242284894	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.243000	0.73865	0.533000	0.62120	AGC		0.627	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		T	244218271	A	T	244218271	3	4	311	1	0	0	0	0	1	0	0	0	17790	304	11	5	1201	5	ZNF238	1	244218271	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	28286206	244218271	5032350	13	16635											
ERLEC1	27248	broad.mit.edu	37	2	54035462	54035462	+	Silent	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr2:54035462G>A	ENST00000185150.4	+	9	1037	c.906G>A	c.(904-906)gaG>gaA	p.E302E	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000405123.3_Silent_p.E302E|ERLEC1_ENST00000378239.5_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	302					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.E302E(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CTAAAGAAGAGAGATTTCCAG	0.383																																																1	Substitution - coding silent(1)	ovary(1)	2											90	90	90					2																	54035462		2203	4300	6503	53888966	SO:0001819	synonymous_variant	27248			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.906G>A	2.37:g.54035462G>A			53888966	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	ENST00000185150.4	37	CCDS1848.1																																																																																				0.383	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		A	54035462	G	A	54035462	2	1	311	1	0	0	0	0	0	0	0	1	5231	933	33	2		2	ERLEC1	2	54035462	Silent	SNP	G	TCGA-25-2392-01A-01W-0799-08		54035462	189163911	14	16636											
ADD2	119	broad.mit.edu	37	2	70905961	70905961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr2:70905961G>A	ENST00000264436.4	-	11	1702	c.1258C>T	c.(1258-1260)Cga>Tga	p.R420*	ADD2_ENST00000407644.2_Nonsense_Mutation_p.R420*|ADD2_ENST00000430656.1_Nonsense_Mutation_p.R436*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R420*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R420*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	420					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.R420*(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCATGCTGTCGCAGGGCGGGC	0.577																																																1	Substitution - Nonsense(1)	ovary(1)	2											137	137	137					2																	70905961		2203	4300	6503	70759469	SO:0001587	stop_gained	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1258C>T	2.37:g.70905961G>A	ENSP00000264436:p.Arg420*		70759469	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Nonsense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	40	8.433140	0.98808	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	.	.	.	5.23	1.04	0.20106	.	0.062929	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-20.4455	13.2583	0.60091	0.0:0.0:0.4622:0.5378	.	.	.	.	X	420;420;420;420;420;436	.	ENSP00000264436:R420X	R	-	1	2	ADD2	70759469	1.000000	0.71417	0.989000	0.46669	0.792000	0.44763	2.365000	0.44196	0.306000	0.22856	0.655000	0.94253	CGA		0.577	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		A	70905961	G	A	70905961	4	1	311	1	0	0	0	0	0	1	0	0	305	1095	38	1	1123	1	ADD2	2	70905961	Nonsense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	16870499	70905961	172293412	15	16637											
IL1F6	27179	broad.mit.edu	37	2	113764288	113764288	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr2:113764288G>A	ENST00000259211.6	+	3	649	c.238G>A	c.(238-240)Ggg>Agg	p.G80R		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	80					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)	p.G80R(1)|p.G80W(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TGCTAAAGTCGGGGACCAGCC	0.483																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	2											140	146	144					2																	113764288		1964	4133	6097	113480759	SO:0001583	missense	27179			AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"Interleukins and interleukin receptors"	15562	protein-coding gene	gene with protein product		605509	"interleukin 1 family, member 6 (epsilon)"	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.238G>A	2.37:g.113764288G>A	ENSP00000259211:p.Gly80Arg		113480759	B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307607	0.23821	.	.	ENSG00000136694	ENST00000259211	T	0.20598	2.06	5.11	-8.41	0.00961	.	0.828332	0.10780	N	0.634986	T	0.14960	0.0361	M	0.66560	2.04	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.26155	-1.0111	10	0.48119	T	0.1	-5.7903	2.8285	0.05492	0.4451:0.3027:0.1499:0.1023	.	80	Q9UHA7	IL36A_HUMAN	R	80	ENSP00000259211:G80R	ENSP00000259211:G80R	G	+	1	0	IL36A	113480759	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.585000	0.05794	-1.749000	0.01330	0.591000	0.81541	GGG		0.483	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440		A	113764288	G	A	113764288	3	1	311	1	0	0	0	0	1	0	0	0	7654	1116	39	1	248	1	IL1F6	2	113764288	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	42858327	113764288	129435085	16	16638											
TTN	7273	broad.mit.edu	37	2	179476535	179476535	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr2:179476535A>C	ENST00000591111.1	-	218	45802	c.45578T>G	c.(45577-45579)gTt>gGt	p.V15193G	TTN_ENST00000460472.2_Missense_Mutation_p.V7769G|TTN_ENST00000342175.6_Missense_Mutation_p.V7961G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V14266G|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V7894G|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V16834G|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15193	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V7769G(1)|p.V14266G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGTGGCCAACTCCAGCTTC	0.443																																																2	Substitution - Missense(2)	ovary(2)	2											141	135	137					2																	179476535		1940	4145	6085	179184780	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45578T>G	2.37:g.179476535A>C	ENSP00000465570:p.Val15193Gly		179184780	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	9.964	1.223509	0.22457	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.97	4.77	0.60923	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53997	0.1831	M	0.76170	2.325	0.58432	D	0.999998	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.57952	-0.7722	9	0.87932	D	0	.	13.2553	0.60074	0.7487:0.2513:0.0:0.0	.	7769;7894;7961;15193	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	14266;7769;7961;7894;7769	ENSP00000343764:V14266G;ENSP00000434586:V7769G;ENSP00000340554:V7961G;ENSP00000352154:V7894G	ENSP00000340554:V7961G	V	-	2	0	TTN	179184780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.903000	0.56318	2.281000	0.76405	0.528000	0.53228	GTT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179476535	A	C	179476535	3	2	311	1	0	0	0	0	1	0	0	0	16735	43	2	5	57572	5	TTN	2	179476535	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	65712247	179476535	63722838	17	16639											
CCDC141	285025	broad.mit.edu	37	2	179701598	179701598	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr2:179701598G>A	ENST00000295723.5	-	13	2679	c.2623C>T	c.(2623-2625)Cca>Tca	p.P875S	CCDC141_ENST00000480419.1_Intron|CCDC141_ENST00000420890.2_Intron			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1450								p.P875S(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCATTTATGGCTTGTCATTA	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											65	62	63					2																	179701598		2203	4300	6503	179409843	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000295723.5:c.2623C>T	2.37:g.179701598G>A	ENSP00000295723:p.Pro875Ser		179409843	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000295723.5	37		.	.	.	.	.	.	.	.	.	.	G	17.68	3.449248	0.63178	.	.	ENSG00000163492	ENST00000343876;ENST00000295723	T;T	0.33654	1.4;1.41	6.08	-4.54	0.03452	Immunoglobulin-like (1);	1.372040	0.04497	N	0.380585	T	0.27524	0.0676	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.41752	-0.9491	9	0.87932	D	0	.	9.2007	0.37256	0.5894:0.0:0.2782:0.1325	.	875	Q6ZP82	CC141_HUMAN	S	894;875	ENSP00000344627:P894S;ENSP00000295723:P875S	ENSP00000295723:P875S	P	-	1	0	CCDC141	179409843	0.007000	0.16637	0.023000	0.16930	0.339000	0.28857	-0.522000	0.06237	-0.935000	0.03728	-0.469000	0.05056	CCA		0.393	CCDC141-201	KNOWN	basic	protein_coding	protein_coding		NM_173648		A	179701598	G	A	179701598	3	1	311	1	0	0	0	0	1	0	0	0	2775	1203	42	2	8	2	CCDC141	2	179701598	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	225063	179701598	63497775	18	16640											
ITGAV	3685	broad.mit.edu	37	2	187516813	187516813	+	Missense_Mutation	SNP	C	C	A	rs559278598		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr2:187516813C>A	ENST00000261023.3	+	15	1776	c.1502C>A	c.(1501-1503)tCc>tAc	p.S501Y	ITGAV_ENST00000433736.2_Missense_Mutation_p.S455Y|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.S465Y	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	501					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.S501Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CTCAAAGTTTCCTGGTAAGGG	0.358																																					Melanoma(58;108 1995 6081)											1	Substitution - Missense(1)	ovary(1)	2											59	62	61					2																	187516813		2203	4300	6503	187225058	SO:0001583	missense	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1502C>A	2.37:g.187516813C>A	ENSP00000261023:p.Ser501Tyr		187225058	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735190	0.69189	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.49720	0.77;0.77;0.77	5.19	5.19	0.71726	Integrin alpha-2 (1);	0.112314	0.64402	D	0.000007	T	0.71871	0.3391	M	0.80332	2.49	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79108	0.973;0.992;0.985	T	0.76069	-0.3094	10	0.87932	D	0	.	19.0799	0.93178	0.0:1.0:0.0:0.0	.	455;465;501	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	Y	501;465;455	ENSP00000261023:S501Y;ENSP00000364042:S465Y;ENSP00000404291:S455Y	ENSP00000261023:S501Y	S	+	2	0	ITGAV	187225058	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.180000	0.71981	2.565000	0.86533	0.561000	0.74099	TCC		0.358	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		A	187516813	C	A	187516813	3	1	311	1	0	0	0	0	1	0	0	0	7888	855	30	3	1611	3	ITGAV	2	187516813	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	7815215	187516813	55682560	19	16641											
PRKAG3	53632	broad.mit.edu	37	2	219691981	219691981	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr2:219691981G>C	ENST00000529249.1	-	9	1306	c.991C>G	c.(991-993)Ctg>Gtg	p.L331V	PRKAG3_ENST00000439262.2_Missense_Mutation_p.L306V|PRKAG3_ENST00000545803.1_Missense_Mutation_p.L147V|PRKAG3_ENST00000392098.3_Silent_p.S315S			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	331	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.L331V(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	AAGATGTGCAGGAACTTGAGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	2											81	77	78					2																	219691981		2203	4300	6503	219400225	SO:0001583	missense	53632			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.991C>G	2.37:g.219691981G>C	ENSP00000436068:p.Leu331Val		219400225	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343831	0.82022	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.93366	-3.21;-3.21;-3.21	5.24	5.24	0.73138	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.96549	0.8874	M	0.79343	2.45	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.95875	0.8894	10	0.44086	T	0.13	-12.4945	17.9976	0.89188	0.0:0.0:1.0:0.0	.	331	Q9UGI9	AAKG3_HUMAN	V	306;147;331	ENSP00000397133:L306V;ENSP00000444536:L147V;ENSP00000436068:L331V	ENSP00000233944:L331V	L	-	1	2	PRKAG3	219400225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.947000	0.56652	2.729000	0.93468	0.655000	0.94253	CTG		0.587	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			C	219691981	G	C	219691981	3	2	311	1	0	0	0	0	1	0	0	0	12505	991	35	3	498	3	PRKAG3	2	219691981	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	32175168	219691981	23507392	20	16642											
SETD5	55209	broad.mit.edu	37	3	9517427	9517427	+	Silent	SNP	T	T	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr3:9517427T>C	ENST00000406341.1	+	22	4171	c.3981T>C	c.(3979-3981)tcT>tcC	p.S1327S	SETD5_ENST00000407969.1_Silent_p.S1346S|SETD5_ENST00000402466.1_Silent_p.S1229S|SETD5_ENST00000402198.1_Silent_p.S1327S|SETD5_ENST00000302463.6_Silent_p.S1229S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1327	Ser-rich.							p.S1229S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCCACATTCTGGAAACAGCA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	3											34	35	35					3																	9517427		1977	4175	6152	9492427	SO:0001819	synonymous_variant	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3981T>C	3.37:g.9517427T>C			9492427	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	CCDS46741.1																																																																																				0.577	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		C	9517427	T	C	9517427	2	2	311	1	0	0	0	0	0	0	0	1	14137	1567	55	4		4	SETD5	3	9517427	Silent	SNP	T	TCGA-25-2392-01A-01W-0799-08		9517427	188505003	21	16643											
NEK10	152110	broad.mit.edu	37	3	27387690	27387690	+	Missense_Mutation	SNP	G	G	C	rs56125830	byFrequency	TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr3:27387690G>C	ENST00000429845.2	-	5	512	c.150C>G	c.(148-150)ttC>ttG	p.F50L	NEK10_ENST00000341435.5_Missense_Mutation_p.F50L			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	50			F -> L (in dbSNP:rs56125830). {ECO:0000269|PubMed:17344846}.		positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F50L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGGCACTATCGAAGTTAATGG	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											118	108	111					3																	27387690		1568	3582	5150	27362694	SO:0001583	missense	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.150C>G	3.37:g.27387690G>C	ENSP00000395849:p.Phe50Leu		27362694	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.	.	.	.	.	.	.	.	.	.	G	15.99	2.995853	0.54147	.	.	ENSG00000163491	ENST00000341435;ENST00000396636;ENST00000435750;ENST00000429845	T;T;T	0.72167	-0.52;1.28;-0.63	5.47	0.676	0.17958	.	0.557136	0.19988	N	0.101633	T	0.52549	0.1741	L	0.36672	1.1	0.80722	D	1	P	0.35328	0.495	B	0.29267	0.1	T	0.40232	-0.9574	10	0.38643	T	0.18	.	7.7761	0.29037	0.7634:0.0:0.2366:0.0	.	50	Q6ZWH5	NEK10_HUMAN	L	50	ENSP00000343847:F50L;ENSP00000395338:F50L;ENSP00000395849:F50L	ENSP00000343847:F50L	F	-	3	2	NEK10	27362694	0.991000	0.36638	0.999000	0.59377	0.991000	0.79684	0.480000	0.22244	0.205000	0.20568	0.655000	0.94253	TTC		0.478	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		C	27387690	G	C	27387690	3	2	311	1	0	0	0	0	1	0	0	0	10322	1049	37	3	2072	3	NEK10	3	27387690	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	17870263	27387690	170634740	22	16644											
CSRNP1	64651	broad.mit.edu	37	3	39188082	39188082	+	Missense_Mutation	SNP	C	C	G	rs142952358		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr3:39188082C>G	ENST00000273153.5	-	2	269	c.92G>C	c.(91-93)cGc>cCc	p.R31P	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R31P	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	31	Ser-rich.				apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	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.R31P(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGAGCAGGAGCGAGACTGGCA	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		18583	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3											50	31	37					3																	39188082		2197	4291	6488	39163086	SO:0001583	missense	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.92G>C	3.37:g.39188082C>G	ENSP00000273153:p.Arg31Pro		39163086	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.364	-0.345831	0.05208	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.44083	0.93;0.93	3.53	-5.91	0.02269	.	0.947731	0.08946	N	0.870794	T	0.14917	0.0360	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17623	-1.0363	10	0.23891	T	0.37	-0.0354	4.1505	0.10235	0.2406:0.1859:0.4818:0.0917	.	31	Q96S65	CSRN1_HUMAN	P	31	ENSP00000273153:R31P;ENSP00000422532:R31P	ENSP00000273153:R31P	R	-	2	0	CSRNP1	39163086	0.000000	0.05858	0.000000	0.03702	0.406000	0.30931	-1.243000	0.02905	-1.553000	0.01702	-0.336000	0.08194	CGC		0.617	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		G	39188082	C	G	39188082	3	3	311	1	0	0	0	0	1	0	0	0	3963	768	27	3	1693	3	CSRNP1	3	39188082	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	11800392	39188082	158834348	23	16645											
ATP6V1A	523	broad.mit.edu	37	3	113517281	113517281	+	Silent	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr3:113517281G>A	ENST00000273398.3	+	12	1590	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	ATP6V1A_ENST00000538620.1_Silent_p.Q461Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	494					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.Q494Q(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	AAATTGTACAGCTTGTGGGAA	0.423																																																1	Substitution - coding silent(1)	ovary(1)	3											75	76	76					3																	113517281		2203	4300	6503	114999971	SO:0001819	synonymous_variant	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1482G>A	3.37:g.113517281G>A			114999971	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	ENST00000273398.3	37	CCDS2976.1																																																																																				0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		A	113517281	G	A	113517281	2	1	311	1	0	0	0	0	0	0	0	1	1177	962	34	2		2	ATP6V1A	3	113517281	Silent	SNP	G	TCGA-25-2392-01A-01W-0799-08	74329199	113517281	84505149	24	16646											
DNAJB11	51726	broad.mit.edu	37	3	186295492	186295492	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr3:186295492C>A	ENST00000439351.1	+	5	1288	c.359C>A	c.(358-360)aCc>aAc	p.T120N	DNAJB11_ENST00000265028.3_Missense_Mutation_p.T120N			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	120					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T120N(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTGGAGGAACCCCTCGTCAG	0.343																																																1	Substitution - Missense(1)	ovary(1)	3											90	93	92					3																	186295492		2203	4300	6503	187778186	SO:0001583	missense	51726			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.359C>A	3.37:g.186295492C>A	ENSP00000414398:p.Thr120Asn		187778186	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951220	0.18431	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.73047	-0.71;-0.71	6.01	2.73	0.32206	.	0.135059	0.64402	N	0.000003	T	0.34019	0.0883	N	0.00483	-1.445	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	10	0.35671	T	0.21	-3.8104	8.4258	0.32729	0.4784:0.3922:0.1294:0.0	.	120	Q9UBS4	DJB11_HUMAN	N	120	ENSP00000414398:T120N;ENSP00000265028:T120N	ENSP00000265028:T120N	T	+	2	0	DNAJB11	187778186	0.972000	0.33761	1.000000	0.80357	0.997000	0.91878	1.197000	0.32211	1.483000	0.48342	0.655000	0.94253	ACC		0.343	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			A	186295492	C	A	186295492	3	1	311	1	0	0	0	0	1	0	0	0	4616	507	18	3	373	3	DNAJB11	3	186295492	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	72778211	186295492	11726938	25	16647											
KLF3	51274	broad.mit.edu	37	4	38691419	38691419	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr4:38691419C>T	ENST00000261438.5	+	4	919	c.614C>T	c.(613-615)cCa>cTa	p.P205L	KLF3_ENST00000514033.1_Missense_Mutation_p.P205L	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	205	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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.P205L(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GGGATCGAACCACAGAGGACA	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											110	110	110					4																	38691419		2203	4300	6503	38367814	SO:0001583	missense	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.614C>T	4.37:g.38691419C>T	ENSP00000261438:p.Pro205Leu		38367814	Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687678	0.68157	.	.	ENSG00000109787	ENST00000261438;ENST00000514033	T;T	0.48201	0.82;0.82	6.03	6.03	0.97812	.	0.146147	0.48767	D	0.000161	T	0.34513	0.0900	N	0.14661	0.345	0.58432	D	0.999992	P	0.37781	0.608	B	0.34180	0.177	T	0.25676	-1.0125	10	0.56958	D	0.05	.	18.7374	0.91761	0.0:1.0:0.0:0.0	.	205	P57682	KLF3_HUMAN	L	205	ENSP00000261438:P205L;ENSP00000421252:P205L	ENSP00000261438:P205L	P	+	2	0	KLF3	38367814	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.371000	0.52379	2.861000	0.98227	0.655000	0.94253	CCA		0.363	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			T	38691419	C	T	38691419	3	4	311	1	0	0	0	0	1	0	0	0	8347	594	21	2	624	2	KLF3	4	38691419	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08		38691419	152462857	26	16648											
LIMCH1	22998	broad.mit.edu	37	4	41694371	41694371	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr4:41694371A>C	ENST00000313860.7	+	26	3250	c.3196A>C	c.(3196-3198)Aac>Cac	p.N1066H	LIMCH1_ENST00000511496.1_Missense_Mutation_p.N880H|LIMCH1_ENST00000514096.1_Missense_Mutation_p.N880H|LIMCH1_ENST00000509277.1_Missense_Mutation_p.N899H|LIMCH1_ENST00000512946.1_Missense_Mutation_p.N1040H|LIMCH1_ENST00000503057.1_Missense_Mutation_p.N1450H|LIMCH1_ENST00000512632.1_Missense_Mutation_p.N963H|LIMCH1_ENST00000381753.4_Missense_Mutation_p.N873H|LIMCH1_ENST00000512820.1_Missense_Mutation_p.N1052H|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000513024.1_Missense_Mutation_p.N893H|LIMCH1_ENST00000396595.3_Missense_Mutation_p.N885H|LIMCH1_ENST00000508501.1_Missense_Mutation_p.N1039H	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1066	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.N1066H(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGGTCTCCTGAACTGTAATGA	0.438																																																1	Substitution - Missense(1)	ovary(1)	4											198	172	181					4																	41694371		2203	4300	6503	41389128	SO:0001583	missense	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.3196A>C	4.37:g.41694371A>C	ENSP00000316891:p.Asn1066His		41389128	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.97|15.97	2.990676|2.990676	0.54041|0.54041	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405|ENST00000508466	D;D;D;D;D;D;D;D;D;D;D;D|.	0.87179|.	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Zinc finger, LIM-type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.38665|.	0.1049|.	N|N	0.10685|0.10685	0.025|0.025	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.997;1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.997;0.998;0.997;0.999|.	D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.995;1.0;0.996;0.989;0.999;0.999;0.999;0.997;0.987;0.998;0.997;0.999|.	T|.	0.30621|.	-0.9972|.	10|.	0.42905|.	T|.	0.14|.	-22.2006|-22.2006	14.8506|14.8506	0.70295|0.70295	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	880;816;899;963;873;885;1450;893;1052;1039;1040;1066|.	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	H|C	893;1039;1040;1066;963;1052;1450;880;1449;880;899;885;873;392|899	ENSP00000425222:N893H;ENSP00000424825:N1039H;ENSP00000424645:N1040H;ENSP00000316891:N1066H;ENSP00000427045:N963H;ENSP00000424437:N1052H;ENSP00000425631:N1450H;ENSP00000421242:N880H;ENSP00000426334:N880H;ENSP00000422864:N899H;ENSP00000379840:N885H;ENSP00000371172:N873H|.	ENSP00000316891:N1066H|.	N|X	+|+	1|3	0|0	LIMCH1|LIMCH1	41389128|41389128	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.094000|0.094000	0.18550|0.18550	8.529000|8.529000	0.90602|0.90602	2.094000|2.094000	0.63399|0.63399	0.455000|0.455000	0.32223|0.32223	AAC|TGA		0.438	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		C	41694371	A	C	41694371	3	2	311	1	0	0	0	0	1	0	0	0	8797	246	9	5	3326	5	LIMCH1	4	41694371	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	3002952	41694371	149459905	27	16649											
CXCL9	4283	broad.mit.edu	37	4	76924817	76924817	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr4:76924817T>A	ENST00000264888.5	-	4	350	c.312A>T	c.(310-312)aaA>aaT	p.K104N	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	104					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.K104N(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTTTTGATGTTTTTTCCCAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	4											160	149	153					4																	76924817		2202	4299	6501	77143841	SO:0001583	missense	4283			X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"Endogenous ligands"	7098	protein-coding gene	gene with protein product		601704	"monokine induced by gamma interferon"	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.312A>T	4.37:g.76924817T>A	ENSP00000354901:p.Lys104Asn		77143841	Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.605517	0.28623	.	.	ENSG00000138755	ENST00000264888	T	0.49720	0.77	5.35	4.14	0.48551	.	0.316084	0.23062	N	0.052372	T	0.25827	0.0629	N	0.19112	0.55	0.31060	N	0.71427	B	0.29627	0.252	B	0.26614	0.071	T	0.26430	-1.0103	10	0.02654	T	1	-1.0925	9.6207	0.39719	0.0:0.0:0.1751:0.8249	.	104	Q07325	CXCL9_HUMAN	N	104	ENSP00000354901:K104N	ENSP00000354901:K104N	K	-	3	2	CXCL9	77143841	0.956000	0.32656	0.925000	0.36789	0.759000	0.43091	1.264000	0.33015	1.118000	0.41863	0.533000	0.62120	AAA		0.338	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			A	76924817	T	A	76924817	3	1	311	1	0	0	0	0	1	0	0	0	4089	1722	60	5	69	5	CXCL9	4	76924817	Missense_Mutation	SNP	T	TCGA-25-2392-01A-01W-0799-08	35230446	76924817	114229459	28	16650											
LARP7	51574	broad.mit.edu	37	4	113570806	113570806	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr4:113570806G>A	ENST00000344442.5	+	9	1536	c.1258G>A	c.(1258-1260)Gga>Aga	p.G420R	MIR302B_ENST00000510655.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.G427R|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302D_ENST00000362275.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.G420R|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	420					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G420R(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AACAGACAGTGGAGTACCTCA	0.299																																																1	Substitution - Missense(1)	ovary(1)	4											61	59	59					4																	113570806		2202	4299	6501	113790255	SO:0001583	missense	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1258G>A	4.37:g.113570806G>A	ENSP00000344950:p.Gly420Arg		113790255	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564729	0.45694	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000513553;ENST00000324052	T;T;T	0.18960	2.18;2.18;2.18	5.64	2.39	0.29439	.	0.871215	0.10024	N	0.725632	T	0.17704	0.0425	M	0.65975	2.015	0.09310	N	1	P	0.43431	0.807	B	0.33521	0.165	T	0.16928	-1.0386	10	0.15952	T	0.53	-17.9781	7.5224	0.27635	0.1114:0.0:0.6407:0.2479	.	420	Q4G0J3	LARP7_HUMAN	R	420;427;88;420	ENSP00000344950:G420R;ENSP00000422626:G427R;ENSP00000314311:G420R	ENSP00000314311:G420R	G	+	1	0	LARP7	113790255	0.007000	0.16637	0.012000	0.15200	0.089000	0.18198	0.581000	0.23819	0.546000	0.28920	0.591000	0.81541	GGA		0.299	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		A	113570806	G	A	113570806	3	1	311	1	0	0	0	0	1	0	0	0	8633	1349	47	2	1288	2	LARP7	4	113570806	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	36645989	113570806	77583470	29	16651											
SPCS3	60559	broad.mit.edu	37	4	177243374	177243374	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr4:177243374T>C	ENST00000503362.1	+	2	310	c.197T>C	c.(196-198)aTc>aCc	p.I66T	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	66					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.I66T(1)		ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CTGGGATTTATCACATTTGAT	0.308																																																1	Substitution - Missense(1)	ovary(1)	4											122	111	114					4																	177243374		1808	4074	5882	177480368	SO:0001583	missense	60559			AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.197T>C	4.37:g.177243374T>C	ENSP00000427463:p.Ile66Thr		177480368	P12280|Q9H0S7	Missense_Mutation	SNP	ENST00000503362.1	37	CCDS54823.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039551	0.75732	.	.	ENSG00000129128	ENST00000503362	.	.	.	5.09	5.09	0.68999	.	0.165190	0.56097	D	0.000037	T	0.67961	0.2949	M	0.63843	1.955	0.58432	D	0.999994	B	0.30686	0.29	B	0.41946	0.371	T	0.70107	-0.4963	9	0.56958	D	0.05	-9.1567	15.1617	0.72791	0.0:0.0:0.0:1.0	.	66	P61009	SPCS3_HUMAN	T	66	.	ENSP00000427463:I66T	I	+	2	0	SPCS3	177480368	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.317000	0.79018	2.047000	0.60756	0.528000	0.53228	ATC		0.308	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		C	177243374	T	C	177243374	3	2	311	1	0	0	0	0	1	0	0	0	15027	1435	50	4	203	4	SPCS3	4	177243374	Missense_Mutation	SNP	T	TCGA-25-2392-01A-01W-0799-08	63672568	177243374	13910902	30	16652											
TRIO	7204	broad.mit.edu	37	5	14419940	14419940	+	Missense_Mutation	SNP	C	C	G	rs202028325		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr5:14419940C>G	ENST00000344204.4	+	34	5037	c.5013C>G	c.(5011-5013)aaC>aaG	p.N1671K	TRIO_ENST00000537187.1_Missense_Mutation_p.N1671K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1671	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N1671K(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCGCTTGCAACAGCAACGAGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	5											58	50	53					5																	14419940		2203	4300	6503	14472940	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5013C>G	5.37:g.14419940C>G	ENSP00000339299:p.Asn1671Lys		14472940	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053774	0.36277	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.15487	2.42;2.42	5.03	3.23	0.37069	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	L	0.47716	1.5	0.47441	D	0.999425	P;P	0.37914	0.458;0.611	B;B	0.41271	0.352;0.138	T	0.05784	-1.0864	10	0.11182	T	0.66	.	8.2346	0.31618	0.0:0.7591:0.0:0.2409	.	1671;1671	O75962-5;O75962	.;TRIO_HUMAN	K	1671;1671;1358	ENSP00000339299:N1671K;ENSP00000446348:N1671K	ENSP00000339299:N1671K	N	+	3	2	TRIO	14472940	0.992000	0.36948	1.000000	0.80357	0.898000	0.52572	0.429000	0.21412	1.119000	0.41883	0.491000	0.48974	AAC		0.607	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14419940	C	G	14419940	3	3	311	1	0	0	0	0	1	0	0	0	16552	477	17	3	5147	3	TRIO	5	14419940	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08		14419940	166495320	31	16653											
FAM105B	90268	broad.mit.edu	37	5	14690252	14690252	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr5:14690252A>T	ENST00000284274.4	+	6	777	c.699A>T	c.(697-699)aaA>aaT	p.K233N		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		233	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.K233N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAGCTGTAAAATTTCTAATGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	5											78	75	76					5																	14690252		1833	4093	5926	14743252	SO:0001583	missense	90268																														ENST00000284274.4:c.699A>T	5.37:g.14690252A>T	ENSP00000284274:p.Lys233Asn		14743252	D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202227	0.79127	.	.	ENSG00000154124	ENST00000284274	T	0.18810	2.19	5.53	0.495	0.16890	.	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	M	0.78049	2.395	0.53005	D	0.999967	D	0.89917	1.0	D	0.91635	0.999	T	0.20907	-1.0261	10	0.87932	D	0	-31.0815	8.7985	0.34894	0.7046:0.0:0.2954:0.0	.	233	Q96BN8	F105B_HUMAN	N	233	ENSP00000284274:K233N	ENSP00000284274:K233N	K	+	3	2	FAM105B	14743252	0.998000	0.40836	0.726000	0.30738	0.998000	0.95712	0.619000	0.24388	-0.073000	0.12842	0.460000	0.39030	AAA		0.393	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			T	14690252	A	T	14690252	3	4	311	1	0	0	0	0	1	0	0	0	5388	98	4	5	721	5	FAM105B	5	14690252	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	270312	14690252	166225008	32	16654											
CMYA5	202333	broad.mit.edu	37	5	79029373	79029373	+	Silent	SNP	A	A	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr5:79029373A>T	ENST00000446378.2	+	2	4816	c.4785A>T	c.(4783-4785)gcA>gcT	p.A1595A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1595					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.A1595A(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAAACCGGCAGTGGAGGTAT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	5											123	123	123					5																	79029373		1875	4118	5993	79065129	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4785A>T	5.37:g.79029373A>T			79065129	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79029373	A	T	79029373	2	4	311	1	0	0	0	0	0	0	0	1	3590	175	7	5		5	CMYA5	5	79029373	Silent	SNP	A	TCGA-25-2392-01A-01W-0799-08	64339121	79029373	101885887	33	16655											
GPRIN1	114787	broad.mit.edu	37	5	176026590	176026590	+	Silent	SNP	G	G	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr5:176026590G>T	ENST00000303991.4	-	2	423	c.246C>A	c.(244-246)tcC>tcA	p.S82S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	82					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.S82S(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTCAGAGCAGGAGGCCCCTT	0.652																																																1	Substitution - coding silent(1)	ovary(1)	5											33	39	37					5																	176026590		2203	4300	6503	175959196	SO:0001819	synonymous_variant	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.246C>A	5.37:g.176026590G>T			175959196	C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	37	CCDS4405.1																																																																																				0.652	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		T	176026590	G	T	176026590	2	4	311	1	0	0	0	0	0	0	0	1	6729	987	35	3		3	GPRIN1	5	176026590	Silent	SNP	G	TCGA-25-2392-01A-01W-0799-08	96997217	176026590	4888670	34	16656											
HIST1H2AM	8336	broad.mit.edu	37	6	27860907	27860907	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr6:27860907C>G	ENST00000359611.2	-	1	56	c.21G>C	c.(19-21)caG>caC	p.Q7H	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	7						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.Q7H(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CCTTGCCGCCCTGCTTGCCAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											39	40	40					6																	27860907		2203	4300	6503	27968886	SO:0001583	missense	8336			X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.21G>C	6.37:g.27860907C>G	ENSP00000352627:p.Gln7His		27968886	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	C	4.190	0.033908	0.08101	.	.	ENSG00000233224	ENST00000359611	T	0.42900	0.96	3.92	-0.0386	0.13879	.	0.000000	0.29028	U	0.013370	T	0.14657	0.0354	N	0.24115	0.695	0.25215	N	0.989941	.	.	.	.	.	.	T	0.15378	-1.0439	8	0.66056	D	0.02	.	8.2238	0.31558	0.0:0.5294:0.0:0.4706	.	.	.	.	H	7	ENSP00000352627:Q7H	ENSP00000352627:Q7H	Q	-	3	2	HIST1H2AM	27968886	0.764000	0.28473	0.997000	0.53966	0.252000	0.25951	-0.186000	0.09670	-0.036000	0.13669	-0.254000	0.11334	CAG		0.582	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		G	27860907	C	G	27860907	3	3	311	1	0	0	0	0	1	0	0	0	7139	680	24	3	375	3	HIST1H2AM	6	27860907	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08		27860907	143254160	35	16657											
MDN1	23195	broad.mit.edu	37	6	90383053	90383053	+	Missense_Mutation	SNP	A	A	G	rs371257592		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr6:90383053A>G	ENST00000369393.3	-	80	13491	c.13376T>C	c.(13375-13377)cTa>cCa	p.L4459P	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.L4459P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4459					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L4459P(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACTTTCAACTAGTGCCATTTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	6						A	PRO/LEU	0,4406		0,0,2203	106	100	102		13376	5.9	1	6		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	MDN1	NM_014611.1	98	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	4459/5597	90383053	1,13005	2203	4300	6503	90439774	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13376T>C	6.37:g.90383053A>G	ENSP00000358400:p.Leu4459Pro		90439774	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.872517	0.51695	0.0	1.16E-4	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04360	3.64;3.64	5.95	5.95	0.96441	.	0.355098	0.24613	N	0.037021	T	0.10680	0.0261	M	0.74258	2.255	0.80722	D	1	D	0.61080	0.989	P	0.55087	0.768	T	0.00792	-1.1564	10	0.62326	D	0.03	.	16.4159	0.83738	1.0:0.0:0.0:0.0	.	4459	Q9NU22	MDN1_HUMAN	P	4459	ENSP00000358400:L4459P;ENSP00000413970:L4459P	ENSP00000358400:L4459P	L	-	2	0	MDN1	90439774	1.000000	0.71417	0.992000	0.48379	0.468000	0.32798	7.470000	0.80973	2.279000	0.76181	0.533000	0.62120	CTA		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			G	90383053	A	G	90383053	3	3	311	1	0	0	0	0	1	0	0	0	9415	420	15	4	3506	4	MDN1	6	90383053	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	62522146	90383053	80732014	36	16658											
KLHL32	114792	broad.mit.edu	37	6	97562044	97562044	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr6:97562044A>G	ENST00000369261.4	+	7	1376	c.1013A>G	c.(1012-1014)cAc>cGc	p.H338R	KLHL32_ENST00000539200.1_Missense_Mutation_p.H269R|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.H302R	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	338								p.H338R(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGAAGGAGCCACCATTGTGTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	6											94	89	91					6																	97562044		2203	4300	6503	97668765	SO:0001583	missense	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1013A>G	6.37:g.97562044A>G	ENSP00000358265:p.His338Arg		97668765	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260894	0.80246	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.66099	-0.19;-0.19;-0.19	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	L	0.29908	0.895	0.80722	D	1	D;D;P;D	0.89917	0.988;0.997;0.647;1.0	P;D;P;D	0.87578	0.875;0.994;0.621;0.998	T	0.55774	-0.8088	10	0.02654	T	1	.	15.522	0.75874	1.0:0.0:0.0:0.0	.	269;302;338;338	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	R	338;302;269	ENSP00000358265:H338R;ENSP00000440382:H302R;ENSP00000441527:H269R	ENSP00000358265:H338R	H	+	2	0	KLHL32	97668765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.725000	0.91468	2.231000	0.72958	0.533000	0.62120	CAC		0.557	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		G	97562044	A	G	97562044	3	3	311	1	0	0	0	0	1	0	0	0	8386	159	6	4	1035	4	KLHL32	6	97562044	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	7178991	97562044	73553023	37	16659											
RFX6	222546	broad.mit.edu	37	6	117198482	117198482	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr6:117198482A>T	ENST00000332958.2	+	1	60	c.44A>T	c.(43-45)cAg>cTg	p.Q15L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	15					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.Q15L(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGCAGGCGCAGCCTGCGCCC	0.682																																																1	Substitution - Missense(1)	ovary(1)	6											18	20	19					6																	117198482		2201	4298	6499	117305175	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.44A>T	6.37:g.117198482A>T	ENSP00000332208:p.Gln15Leu		117305175	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.400290	0.25291	.	.	ENSG00000185002	ENST00000332958	T	0.56776	0.44	5.35	4.18	0.49190	.	0.254610	0.28021	N	0.016918	T	0.17534	0.0421	N	0.24115	0.695	0.27587	N	0.949381	B	0.15930	0.015	B	0.10450	0.005	T	0.11792	-1.0573	10	0.66056	D	0.02	-7.9467	6.2027	0.20585	0.6649:0.1825:0.0:0.1526	.	15	Q8HWS3	RFX6_HUMAN	L	15	ENSP00000332208:Q15L	ENSP00000332208:Q15L	Q	+	2	0	RFX6	117305175	0.554000	0.26522	0.646000	0.29493	0.070000	0.16714	2.963000	0.49184	1.024000	0.39682	-0.468000	0.05107	CAG		0.682	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		T	117198482	A	T	117198482	3	4	311	1	0	0	0	0	1	0	0	0	13270	188	7	5	46	5	RFX6	6	117198482	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	19636438	117198482	53916585	38	16660											
RELN	5649	broad.mit.edu	37	7	103234215	103234215	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr7:103234215C>T	ENST00000428762.1	-	27	3985	c.3826G>A	c.(3826-3828)Gca>Aca	p.A1276T	RELN_ENST00000424685.2_Missense_Mutation_p.A1276T|RELN_ENST00000343529.5_Missense_Mutation_p.A1276T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1276					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A1276T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATATCATTGCTGATGGTGTG	0.403																																					NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - Missense(1)	ovary(1)	7											169	154	159					7																	103234215		2203	4300	6503	103021451	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3826G>A	7.37:g.103234215C>T	ENSP00000392423:p.Ala1276Thr		103021451	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166963	0.94768	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.29142	1.58;1.58;1.58	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	L	0.59436	1.845	0.80722	D	1	P;D	0.69078	0.529;0.997	B;D	0.73380	0.152;0.98	T	0.51647	-0.8679	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1276;1276	P78509-2;P78509	.;RELN_HUMAN	T	1276	ENSP00000392423:A1276T;ENSP00000345694:A1276T;ENSP00000388446:A1276T	ENSP00000345694:A1276T	A	-	1	0	RELN	103021451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.270000	0.78493	2.885000	0.99019	0.655000	0.94253	GCA		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103234215	C	T	103234215	3	4	311	1	0	0	0	0	1	0	0	0	13223	797	28	2	6712	2	RELN	7	103234215	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08		103234215	55904448	39	16661											
AASS	10157	broad.mit.edu	37	7	121756700	121756700	+	Missense_Mutation	SNP	C	C	G	rs370266183		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr7:121756700C>G	ENST00000393376.1	-	7	976	c.881G>C	c.(880-882)cGt>cCt	p.R294P	AASS_ENST00000417368.2_Missense_Mutation_p.R294P|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	294	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AGTATTAAAACGACTTATGTA	0.383																																																0			7											87	76	80					7																	121756700		2203	4300	6503	121543936	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.881G>C	7.37:g.121756700C>G	ENSP00000377040:p.Arg294Pro		121543936	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426609	0.62733	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.82803	-1.65;-1.65	5.82	5.82	0.92795	Alanine dehydrogenase/PNT, C-terminal (1);	0.215608	0.46442	D	0.000294	D	0.88276	0.6393	L	0.59436	1.845	0.48571	D	0.999677	D	0.63880	0.993	P	0.59288	0.855	D	0.85239	0.1037	10	0.30078	T	0.28	-18.4129	20.0953	0.97838	0.0:1.0:0.0:0.0	.	294	Q9UDR5	AASS_HUMAN	P	294	ENSP00000377040:R294P;ENSP00000403768:R294P	ENSP00000351834:R294P	R	-	2	0	AASS	121543936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.460000	0.60108	2.767000	0.95098	0.655000	0.94253	CGT		0.383	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		G	121756700	C	G	121756700	3	3	311	1	0	0	0	0	1	0	0	0	24	536	19	3	1967	3	AASS	7	121756700	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	18522485	121756700	37381963	40	16662											
CPA1	1357	broad.mit.edu	37	7	130023569	130023569	+	Silent	SNP	C	C	T	rs377138792		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr7:130023569C>T	ENST00000011292.3	+	6	780	c.630C>T	c.(628-630)ctC>ctT	p.L210L	CPA1_ENST00000484324.1_Silent_p.L122L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	210					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L210L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCGCCATTCTCGACACCTTGG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	7						C		0,4406		0,0,2203	187	158	168		630	-9	0	7		168	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPA1	NM_001868.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		210/420	130023569	1,13005	2203	4300	6503	129810805	SO:0001819	synonymous_variant	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.630C>T	7.37:g.130023569C>T			129810805	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	CCDS5820.1																																																																																				0.607	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		T	130023569	C	T	130023569	2	4	311	1	0	0	0	0	0	0	0	1	3789	871	31	1		1	CPA1	7	130023569	Silent	SNP	C	TCGA-25-2392-01A-01W-0799-08	8266869	130023569	29115094	41	16663											
OR2F2	135948	broad.mit.edu	37	7	143632336	143632336	+	Missense_Mutation	SNP	A	A	G	rs202173407		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr7:143632336A>G	ENST00000408955.2	+	1	78	c.11A>G	c.(10-12)gAt>gGt	p.D4G		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D4G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATGGAAATAGATAACCAGACG	0.368																																																1	Substitution - Missense(1)	ovary(1)	7						A	GLY/ASP	0,4392		0,0,2196	73	78	76		11	0.9	0	7		76	1,8599		0,1,4299	no	missense	OR2F2	NM_001004685.1	94	0,1,6495	GG,GA,AA		0.0116,0.0,0.0077	benign	4/318	143632336	1,12991	2196	4300	6496	143263269	SO:0001583	missense	135948				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.11A>G	7.37:g.143632336A>G	ENSP00000386222:p.Asp4Gly		143263269	A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	8.915	0.959637	0.18507	0.0	1.16E-4	ENSG00000221910	ENST00000408955	T	0.00438	7.42	3.49	0.897	0.19258	.	1.593700	0.03651	N	0.240997	T	0.00210	0.0006	N	0.03891	-0.335	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31052	-0.9957	10	0.23302	T	0.38	5.6348	4.7579	0.13093	0.6996:0.1906:0.1099:0.0	.	4	O95006	OR2F2_HUMAN	G	4	ENSP00000386222:D4G	ENSP00000386222:D4G	D	+	2	0	OR2F2	143263269	0.000000	0.05858	0.001000	0.08648	0.373000	0.29922	0.330000	0.19715	0.064000	0.16427	0.402000	0.26972	GAT		0.368	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			G	143632336	A	G	143632336	3	3	311	1	0	0	0	0	1	0	0	0	10997	333	12	4	13	4	OR2F2	7	143632336	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	13608767	143632336	15506327	42	16664											
DNAJB6	10049	broad.mit.edu	37	7	157178322	157178322	+	Intron	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr7:157178322G>A	ENST00000262177.4	+	8	896				DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Intron|DNAJB6_ENST00000429029.2_Silent_p.L236L	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6						intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGCAGCTGCTGCGCTTGGATA	0.368																																					Esophageal Squamous(46;195 967 1350 20350 43814)											0			7											102	100	101					7																	157178322		2203	4300	6503	156871083	SO:0001627	intron_variant	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.691+17G>A	7.37:g.157178322G>A			156871083	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Silent	SNP	ENST00000262177.4	37	CCDS5946.1																																																																																				0.368	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			A	157178322	G	A	157178322	1	1	311	0	1	0	0	0	0	0	0	0	4624	1306	46	2		2	DNAJB6	7	157178322	Intron	SNP	G	TCGA-25-2392-01A-01W-0799-08	13545986	157178322	1960341	43	16665											
GPR124	25960	broad.mit.edu	37	8	37690582	37690582	+	Silent	SNP	C	C	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr8:37690582C>T	ENST00000412232.2	+	9	1165	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	GPR124_ENST00000315215.7_Silent_p.P384P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	384					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P377P(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGCAGTATCCCTTCACCTCAG	0.687																																																1	Substitution - coding silent(1)	ovary(1)	8											92	102	99					8																	37690582		2203	4300	6503	37809740	SO:0001819	synonymous_variant	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1152C>T	8.37:g.37690582C>T			37809740	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																				0.687	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37690582	C	T	37690582	2	4	311	1	0	0	0	0	0	0	0	1	6638	668	24	2		2	GPR124	8	37690582	Silent	SNP	C	TCGA-25-2392-01A-01W-0799-08		37690582	108673440	44	16666											
TRPM3	80036	broad.mit.edu	37	9	73168117	73168117	+	Silent	SNP	C	C	A	rs376251043		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr9:73168117C>A	ENST00000377111.2	-	22	3540	c.3297G>T	c.(3295-3297)gtG>gtT	p.V1099V	TRPM3_ENST00000357533.2_Silent_p.V1103V|TRPM3_ENST00000377110.3_Silent_p.V1099V|TRPM3_ENST00000377105.1_Silent_p.V958V|TRPM3_ENST00000408909.2_Silent_p.V958V|TRPM3_ENST00000396285.1_Silent_p.V958V|TRPM3_ENST00000358082.3_Silent_p.V961V|TRPM3_ENST00000396280.5_Silent_p.V948V|TRPM3_ENST00000423814.3_Silent_p.V1126V|TRPM3_ENST00000396292.4_Silent_p.V971V|TRPM3_ENST00000360823.2_Silent_p.V961V|TRPM3_ENST00000377106.1_Silent_p.V971V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1124					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.V971V(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGATGTTTGCCACTAAGAGGT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	9						C	,,,,,,	0,4406		0,0,2203	97	73	81		3297,2838,2874,2808,2844,2913,2883	4	1	9		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPM3	NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3	,,,,,,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,,,,,,	1099/1708,946/1555,958/1567,936/1545,948/1557,971/1580,961/1570	73168117	1,13005	2203	4300	6503	72357937	SO:0001819	synonymous_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3297G>T	9.37:g.73168117C>A			72357937	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	C	8.655	0.899267	0.17686	0.0	1.16E-4	ENSG00000083067	ENST00000396280	.	.	.	5.81	3.96	0.45880	.	.	.	.	.	T	0.53981	0.1830	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48917	-0.8992	4	.	.	.	-23.9194	5.0358	0.14434	0.2495:0.5348:0.0:0.2157	.	.	.	.	C	948	.	.	G	-	1	0	TRPM3	72357937	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	0.799000	0.27028	0.780000	0.33566	0.655000	0.94253	GGC		0.537	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		A	73168117	C	A	73168117	2	1	311	1	0	0	0	0	0	0	0	1	16587	581	21	3		3	TRPM3	9	73168117	Silent	SNP	C	TCGA-25-2392-01A-01W-0799-08		73168117	68045314	45	16667											
CEP110	11064	broad.mit.edu	37	9	123877463	123877463	+	Silent	SNP	T	T	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr9:123877463T>C	ENST00000373855.1	+	11	1700	c.1440T>C	c.(1438-1440)gcT>gcC	p.A480A	CNTRL_ENST00000238341.5_Silent_p.A480A|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	480					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.A480A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGGAAGAAGCTATACAACTAA	0.318																																																1	Substitution - coding silent(1)	ovary(1)	9											71	73	72					9																	123877463		2202	4297	6499	122917284	SO:0001819	synonymous_variant	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1440T>C	9.37:g.123877463T>C			122917284	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	CCDS35118.1																																																																																				0.318	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		C	123877463	T	C	123877463	2	2	311	1	0	0	0	0	0	0	0	1	3245	1509	53	4		4	CEP110	9	123877463	Silent	SNP	T	TCGA-25-2392-01A-01W-0799-08	50709346	123877463	17335968	46	16668											
ANK3	288	broad.mit.edu	37	10	61829385	61829385	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr10:61829385A>T	ENST00000280772.2	-	37	11445	c.11254T>A	c.(11254-11256)Tgt>Agt	p.C3752S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3752					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.C3752S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATCCCTGACAACTGGTCATC	0.398																																																1	Substitution - Missense(1)	ovary(1)	10											131	141	137					10																	61829385		2203	4300	6503	61499391	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11254T>A	10.37:g.61829385A>T	ENSP00000280772:p.Cys3752Ser		61499391	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.457243	0.01071	.	.	ENSG00000151150	ENST00000280772	T	0.15952	2.38	5.3	-0.774	0.10991	.	0.813546	0.10352	N	0.684994	T	0.07234	0.0183	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43702	-0.9375	10	0.06365	T	0.9	.	15.9271	0.79628	0.4587:0.5413:0.0:0.0	.	3752	Q12955	ANK3_HUMAN	S	3752	ENSP00000280772:C3752S	ENSP00000280772:C3752S	C	-	1	0	ANK3	61499391	0.985000	0.35326	0.997000	0.53966	0.999000	0.98932	0.620000	0.24403	-0.009000	0.14296	0.533000	0.62120	TGT		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61829385	A	T	61829385	3	4	311	1	0	0	0	0	1	0	0	0	622	130	5	5	2220	5	ANK3	10	61829385	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08		61829385	73705362	47	16669											
PLA2G12B	84647	broad.mit.edu	37	10	74701081	74701081	+	Silent	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr10:74701081G>A	ENST00000373032.3	-	3	404	c.312C>T	c.(310-312)ggC>ggT	p.G104G		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	104					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.G104G(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TTGCTGGAATGCCCAAGTCCA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	10											145	138	140					10																	74701081		2203	4300	6503	74371087	SO:0001819	synonymous_variant	84647			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"phospholipase A2, group XIII"	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.312C>T	10.37:g.74701081G>A			74371087	B7ZL23|Q52LB2|Q96Q99	Silent	SNP	ENST00000373032.3	37	CCDS7319.1																																																																																				0.473	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		A	74701081	G	A	74701081	2	1	311	1	0	0	0	0	0	0	0	1	11991	1306	46	2		2	PLA2G12B	10	74701081	Silent	SNP	G	TCGA-25-2392-01A-01W-0799-08	12871696	74701081	60833666	48	16670											
TSPAN14	81619	broad.mit.edu	37	10	82269140	82269140	+	Silent	SNP	C	C	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr10:82269140C>T	ENST00000429989.3	+	5	586	c.363C>T	c.(361-363)gaC>gaT	p.D121D	TSPAN14_ENST00000372158.1_Silent_p.D121D|TSPAN14_ENST00000372156.1_Silent_p.D121D|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Silent_p.D104D	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	121					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.D121D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGGTGAGGGACCGGTTCCGGG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	10											114	95	102					10																	82269140		2203	4300	6503	82259120	SO:0001819	synonymous_variant	81619			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"Tetraspanins"	23303	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 14"	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.363C>T	10.37:g.82269140C>T			82259120	A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	CCDS7369.1																																																																																				0.577	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		T	82269140	C	T	82269140	2	4	311	1	0	0	0	0	0	0	0	1	16638	506	18	2		2	TSPAN14	10	82269140	Silent	SNP	C	TCGA-25-2392-01A-01W-0799-08	7568059	82269140	53265607	49	16671											
NOC3L	64318	broad.mit.edu	37	10	96099617	96099617	+	Missense_Mutation	SNP	C	C	T	rs149958947		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr10:96099617C>T	ENST00000371361.3	-	17	1941	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	NOC3L_ENST00000543788.1_Missense_Mutation_p.R352H|NOC3L_ENST00000371350.1_Missense_Mutation_p.R614H	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	614					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R614H(2)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTGCTTTCTGCGCTTAGTTAG	0.428													C|||	1	0.000199681	0	0	5008	,	,		20274	0		0.001	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(1)|endometrium(1)	10						C	HIS/ARG	0,4406		0,0,2203	107	98	101		1841	5.5	1	10	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOC3L	NM_022451.9	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	614/801	96099617	1,13005	2203	4300	6503	96089607	SO:0001583	missense	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1841G>A	10.37:g.96099617C>T	ENSP00000360412:p.Arg614His		96089607	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	33	5.257284	0.95368	0.0	1.16E-4	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.25085	1.82;1.82;1.82	5.5	5.5	0.81552	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64659	-0.6355	10	0.52906	T	0.07	-7.1078	19.7571	0.96298	0.0:1.0:0.0:0.0	.	614	Q8WTT2	NOC3L_HUMAN	H	352;614;614	ENSP00000437838:R352H;ENSP00000360412:R614H;ENSP00000360401:R614H	ENSP00000360401:R614H	R	-	2	0	NOC3L	96089607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.758000	0.94735	0.561000	0.74099	CGC		0.428	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		T	96099617	C	T	96099617	3	4	311	1	0	0	0	0	1	0	0	0	10514	768	27	1	581	1	NOC3L	10	96099617	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	13830477	96099617	39435130	50	16672											
LCOR	84458	broad.mit.edu	37	10	98714825	98714825	+	Nonsense_Mutation	SNP	A	A	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr10:98714825A>T	ENST00000371097.4	+	8	994	c.448A>T	c.(448-450)Aaa>Taa	p.K150*	LCOR_ENST00000540664.1_Nonsense_Mutation_p.K150*|LCOR_ENST00000371103.3_Nonsense_Mutation_p.K150*|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Nonsense_Mutation_p.K150*			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	150					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K150*(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CACATCACTCAAAGTTCCACT	0.522																																																1	Substitution - Nonsense(1)	ovary(1)	10											76	67	70					10																	98714825		2203	4300	6503	98704815	SO:0001587	stop_gained	84458				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.448A>T	10.37:g.98714825A>T	ENSP00000360138:p.Lys150*		98704815	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Nonsense_Mutation	SNP	ENST00000371097.4	37	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	A	39	7.419156	0.98272	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.43	5.43	0.79202	.	0.096682	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-0.2287	15.7667	0.78131	1.0:0.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000348298:K150X	K	+	1	0	LCOR	98704815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.905000	0.92613	2.178000	0.69098	0.528000	0.53228	AAA		0.522	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			T	98714825	A	T	98714825	4	4	311	1	0	0	0	0	0	1	0	0	8689	131	5	5	458	5	LCOR	10	98714825	Nonsense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	2615208	98714825	36819922	51	16673											
ABCC8	6833	broad.mit.edu	37	11	17418522	17418522	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr11:17418522C>A	ENST00000389817.3	-	33	4128	c.4060G>T	c.(4060-4062)Gac>Tac	p.D1354Y	ABCC8_ENST00000302539.4_Missense_Mutation_p.D1355Y			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1354	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.D1354N(1)|p.D1354Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGGAGCTGTCGTAGCGCACG	0.632																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	11											130	104	113					11																	17418522		2200	4293	6493	17375098	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4060G>T	11.37:g.17418522C>A	ENSP00000374467:p.Asp1354Tyr		17375098	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.903985|4.903985	0.92035|0.92035	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000389817;ENST00000302539|ENST00000528374	D;D|.	0.91011|.	-2.77;-2.77|.	4.83|4.83	4.83|4.83	0.62350|0.62350	ABC transporter-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65974|0.65974	0.2743|0.2743	L|L	0.41236|0.41236	1.265|1.265	0.80722|0.80722	D|D	1|1	D|.	0.56746|.	0.977|.	P|.	0.50537|.	0.643|.	T|T	0.62704|0.62704	-0.6798|-0.6798	10|5	0.66056|.	D|.	0.02|.	.|.	18.2867|18.2867	0.90117|0.90117	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1354|.	Q09428|.	ABCC8_HUMAN|.	Y|L	1354;1355|181	ENSP00000374467:D1354Y;ENSP00000303960:D1355Y|.	ENSP00000303960:D1355Y|.	D|R	-|-	1|2	0|0	ABCC8|ABCC8	17375098|17375098	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.924000|0.924000	0.55760|0.55760	5.983000|5.983000	0.70540|0.70540	2.386000|2.386000	0.81285|0.81285	0.555000|0.555000	0.69702|0.69702	GAC|CGA		0.632	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		A	17418522	C	A	17418522	3	1	311	1	0	0	0	0	1	0	0	0	58	884	31	3	713	3	ABCC8	11	17418522	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08		17418522	117587994	52	16674											
DLG2	1740	broad.mit.edu	37	11	83770481	83770481	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr11:83770481C>A	ENST00000532653.1	-	6	783	c.481G>T	c.(481-483)Gtt>Ttt	p.V161F	DLG2_ENST00000330014.6_Missense_Mutation_p.V100F|DLG2_ENST00000531015.1_Missense_Mutation_p.V128F|DLG2_ENST00000524982.1_Missense_Mutation_p.V161F|DLG2_ENST00000543673.1_Missense_Mutation_p.V266F|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398309.2_Missense_Mutation_p.V161F|DLG2_ENST00000418306.2_Missense_Mutation_p.V110F|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.V200F|DLG2_ENST00000398301.2_Missense_Mutation_p.V200F|DLG2_ENST00000376104.2_Missense_Mutation_p.V266F			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.V161F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGTGGGAAACCTCTGACACA	0.468																																																1	Substitution - Missense(1)	ovary(1)	11											89	81	84					11																	83770481		1916	4151	6067	83448129	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.481G>T	11.37:g.83770481C>A	ENSP00000435849:p.Val161Phe		83448129	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	33	5.200660	0.94997	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.17	5.17	0.71159	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000019	T	0.57681	0.2070	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;0.999;0.999;0.998;1.0	T	0.58233	-0.7672	9	.	.	.	.	18.6643	0.91483	0.0:1.0:0.0:0.0	.	128;161;161;100;200;266;161;110	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	F	161;266;110;266;200;100;161;161;266;128;200;78	ENSP00000381355:V161F;ENSP00000365272:V266F;ENSP00000402275:V110F;ENSP00000441994:V266F;ENSP00000280241:V200F;ENSP00000381353:V100F;ENSP00000432894:V161F;ENSP00000435849:V161F;ENSP00000433848:V128F;ENSP00000381346:V200F;ENSP00000381344:V78F	.	V	-	1	0	DLG2	83448129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.420000	0.82092	0.460000	0.39030	GTT		0.468	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		A	83770481	C	A	83770481	3	1	311	1	0	0	0	0	1	0	0	0	4555	507	18	3	2253	3	DLG2	11	83770481	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	66351959	83770481	51236035	53	16675											
FAM55D	54827	broad.mit.edu	37	11	114451019	114451019	+	Missense_Mutation	SNP	T	T	A	rs527913953		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr11:114451019T>A	ENST00000375478.3	-	5	1114	c.934A>T	c.(934-936)Aca>Tca	p.T312S	NXPE4_ENST00000424261.2_Missense_Mutation_p.T28S	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	312						extracellular vesicular exosome (GO:0070062)		p.T312S(1)									ATTGTGGATGTCATTCCAAAC	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											162	148	153					11																	114451019		1881	4117	5998	113956229	SO:0001583	missense	54827			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.934A>T	11.37:g.114451019T>A	ENSP00000364627:p.Thr312Ser		113956229	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.667780	0.29604	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.13307	2.6;2.83	5.31	-0.465	0.12157	.	1.492970	0.03874	N	0.276132	T	0.11067	0.0270	L	0.38531	1.155	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.37033	-0.9723	10	0.10636	T	0.68	.	8.4556	0.32897	0.0:0.4415:0.0:0.5585	.	312	Q6UWF7	FA55D_HUMAN	S	28;312	ENSP00000401503:T28S;ENSP00000364627:T312S	ENSP00000364627:T312S	T	-	1	0	FAM55D	113956229	0.002000	0.14202	0.007000	0.13788	0.961000	0.63080	-0.574000	0.05868	-0.259000	0.09432	0.533000	0.62120	ACA		0.413	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		A	114451019	T	A	114451019	3	1	311	1	0	0	0	0	1	0	0	0	5587	1667	58	5	708	5	FAM55D	11	114451019	Missense_Mutation	SNP	T	TCGA-25-2392-01A-01W-0799-08	30680538	114451019	20555497	54	16676											
LRMP	4033	broad.mit.edu	37	12	25256980	25256980	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr12:25256980G>A	ENST00000354454.3	+	18	1863	c.1034G>A	c.(1033-1035)aGg>aAg	p.R345K	LRMP_ENST00000548766.1_Missense_Mutation_p.R345K|LRMP_ENST00000547044.1_Missense_Mutation_p.R345K	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	401					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R345K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTCAGTAGAAGGTCAAGCAGT	0.318																																																1	Substitution - Missense(1)	ovary(1)	12											139	150	146					12																	25256980		2203	4300	6503	25148247	SO:0001583	missense	4033				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.1034G>A	12.37:g.25256980G>A	ENSP00000346442:p.Arg345Lys		25148247	A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029006	0.93518	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.82	5.82	0.92795	.	0.242930	0.41001	D	0.000966	T	0.24586	0.0596	M	0.75264	2.295	0.46437	D	0.999049	B	0.34329	0.449	B	0.38921	0.285	T	0.01087	-1.1456	10	0.62326	D	0.03	-14.2647	16.8121	0.85724	0.0:0.0:1.0:0.0	.	401	Q12912	LRMP_HUMAN	K	345;292;345;345	ENSP00000346442:R345K;ENSP00000444056:R292K;ENSP00000446496:R345K;ENSP00000450246:R345K	ENSP00000346442:R345K	R	+	2	0	LRMP	25148247	1.000000	0.71417	0.962000	0.40283	0.993000	0.82548	6.326000	0.72905	2.744000	0.94065	0.650000	0.86243	AGG		0.318	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		A	25256980	G	A	25256980	3	1	311	1	0	0	0	0	1	0	0	0	8950	1000	35	2	1088	2	LRMP	12	25256980	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08		25256980	108594915	55	16677											
RPAP3	79657	broad.mit.edu	37	12	48091436	48091436	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr12:48091436A>C	ENST00000005386.3	-	4	476	c.361T>G	c.(361-363)Tcg>Gcg	p.S121A	RPAP3_ENST00000432584.3_5'UTR|RPAP3_ENST00000380650.4_Missense_Mutation_p.S121A	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	121								p.S121A(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCTTCTTCCGACTCTGATTCT	0.373																																																1	Substitution - Missense(1)	ovary(1)	12											110	110	110					12																	48091436		2203	4300	6503	46377703	SO:0001583	missense	79657			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.361T>G	12.37:g.48091436A>C	ENSP00000005386:p.Ser121Ala		46377703	B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160251	0.78226	.	.	ENSG00000005175	ENST00000005386;ENST00000380650	T;T	0.10192	2.9;2.92	5.49	5.49	0.81192	.	0.227351	0.30227	N	0.010114	T	0.22322	0.0538	L	0.56769	1.78	0.46279	D	0.998968	D;D	0.54964	0.969;0.969	P;P	0.55087	0.768;0.472	T	0.01280	-1.1397	10	0.25106	T	0.35	.	15.0654	0.71989	1.0:0.0:0.0:0.0	.	121;121	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	A	121	ENSP00000005386:S121A;ENSP00000370024:S121A	ENSP00000005386:S121A	S	-	1	0	RPAP3	46377703	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.755000	0.74914	2.209000	0.71365	0.459000	0.35465	TCG		0.373	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		C	48091436	A	C	48091436	3	2	311	1	0	0	0	0	1	0	0	0	13546	275	10	5	1692	5	RPAP3	12	48091436	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	22834456	48091436	85760459	56	16678											
TFCP2	7024	broad.mit.edu	37	12	51512474	51512474	+	Missense_Mutation	SNP	T	T	A	rs146119086		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr12:51512474T>A	ENST00000257915.5	-	2	662	c.204A>T	c.(202-204)caA>caT	p.Q68H	TFCP2_ENST00000549867.1_Missense_Mutation_p.Q68H|TFCP2_ENST00000548115.1_Missense_Mutation_p.Q68H|TFCP2_ENST00000307660.4_Missense_Mutation_p.Q68H	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	68					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q68H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AAAGCACATATTGAAAAGGCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											185	175	179					12																	51512474		2203	4300	6503	49798741	SO:0001583	missense	7024			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.204A>T	12.37:g.51512474T>A	ENSP00000257915:p.Gln68His		49798741	A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315801	0.81469	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.66	-7.64	0.01286	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	M	0.78916	2.43	0.53005	D	0.999962	D;P;B;P	0.64830	0.994;0.503;0.258;0.749	D;B;B;P	0.78314	0.991;0.29;0.316;0.632	T	0.54938	-0.8218	10	0.72032	D	0.01	-14.1802	15.1832	0.72975	0.0931:0.7124:0.0:0.1945	.	68;68;68;68	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	H	68	ENSP00000257915:Q68H;ENSP00000304411:Q68H;ENSP00000449742:Q68H;ENSP00000447991:Q68H	ENSP00000257915:Q68H	Q	-	3	2	TFCP2	49798741	0.929000	0.31497	0.865000	0.33974	0.974000	0.67602	0.102000	0.15272	-1.173000	0.02758	-0.326000	0.08463	CAA		0.383	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		A	51512474	T	A	51512474	3	1	311	1	0	0	0	0	1	0	0	0	15795	1490	52	5	1360	5	TFCP2	12	51512474	Missense_Mutation	SNP	T	TCGA-25-2392-01A-01W-0799-08	3421038	51512474	82339421	57	16679											
OR10A7	121364	broad.mit.edu	37	12	55615509	55615509	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr12:55615509G>T	ENST00000326258.1	+	1	701	c.701G>T	c.(700-702)cGc>cTc	p.R234L		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234L(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GCCACTGGCCGCCAGAAGGCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											112	94	100					12																	55615509		2203	4300	6503	53901776	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.701G>T	12.37:g.55615509G>T	ENSP00000326718:p.Arg234Leu		53901776	Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	g	9.168	1.020441	0.19433	.	.	ENSG00000179919	ENST00000326258	T	0.00330	8.08	4.08	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	0.346305	0.20666	N	0.087929	T	0.00724	0.0024	M	0.84846	2.72	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.37430	-0.9706	10	0.87932	D	0	.	8.4721	0.32991	0.3398:0.0:0.6602:0.0	.	234	Q8NGE5	O10A7_HUMAN	L	234	ENSP00000326718:R234L	ENSP00000326718:R234L	R	+	2	0	OR10A7	53901776	0.001000	0.12720	0.034000	0.17996	0.042000	0.13812	0.855000	0.27805	0.148000	0.19059	-0.154000	0.13518	CGC		0.493	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			T	55615509	G	T	55615509	3	4	311	1	0	0	0	0	1	0	0	0	10895	1087	38	3	703	3	OR10A7	12	55615509	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	4103035	55615509	78236386	58	16680											
RASAL1	8437	broad.mit.edu	37	12	113565957	113565957	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr12:113565957C>A	ENST00000261729.5	-	4	464	c.149G>T	c.(148-150)gGc>gTc	p.G50V	RASAL1_ENST00000548055.1_Missense_Mutation_p.G50V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.G50V|RASAL1_ENST00000546530.1_Missense_Mutation_p.G50V			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	50	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.G50V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCAGAAGGGGCCCAGGCTCCT	0.627																																																1	Substitution - Missense(1)	ovary(1)	12											150	153	152					12																	113565957		2203	4300	6503	112050340	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.149G>T	12.37:g.113565957C>A	ENSP00000261729:p.Gly50Val		112050340	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463352	0.43736	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.12	2.86	0.33363	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.198474	0.50627	D	0.000101	T	0.47838	0.1467	N	0.14661	0.345	0.39220	D	0.963483	B;B;B;B;B;B;B	0.29590	0.25;0.25;0.21;0.25;0.03;0.076;0.21	B;B;B;B;B;B;B	0.36719	0.231;0.231;0.148;0.231;0.085;0.139;0.148	T	0.40001	-0.9586	10	0.42905	T	0.14	.	5.394	0.16259	0.0:0.5221:0.0:0.4779	.	50;50;50;62;50;50;50	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	V	50	ENSP00000450244:G50V;ENSP00000261729:G50V;ENSP00000395920:G50V;ENSP00000448510:G50V	ENSP00000261729:G50V	G	-	2	0	RASAL1	112050340	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.876000	0.48498	0.559000	0.29153	0.491000	0.48974	GGC		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113565957	C	A	113565957	3	1	311	1	0	0	0	0	1	0	0	0	13066	739	26	3	2341	3	RASAL1	12	113565957	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	57950448	113565957	20285938	59	16681											
FBXW8	26259	broad.mit.edu	37	12	117461994	117461994	+	Silent	SNP	G	G	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr12:117461994G>T	ENST00000309909.5	+	9	1492	c.1410G>T	c.(1408-1410)tcG>tcT	p.S470S	FBXW8_ENST00000455858.2_Silent_p.S404S			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	470					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.S470S(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TCGCCCTGTCGCTCTCCGCCC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	12											147	117	127					12																	117461994		2203	4300	6503	115946377	SO:0001819	synonymous_variant	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1410G>T	12.37:g.117461994G>T			115946377	Q9UK95	Silent	SNP	ENST00000309909.5	37	CCDS9182.1																																																																																				0.572	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		T	117461994	G	T	117461994	2	4	311	1	0	0	0	0	0	0	0	1	5770	1074	38	3		3	FBXW8	12	117461994	Silent	SNP	G	TCGA-25-2392-01A-01W-0799-08	3896037	117461994	16389901	60	16682											
TEP1	7011	broad.mit.edu	37	14	20846616	20846616	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr14:20846616C>G	ENST00000262715.5	-	38	5471	c.5431G>C	c.(5431-5433)Gag>Cag	p.E1811Q	TEP1_ENST00000556935.1_Missense_Mutation_p.E1703Q|TEP1_ENST00000545983.1_Missense_Mutation_p.E149Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1811					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.E1811Q(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACCTGCCCCTCTGGGTGGAAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	14											77	74	75					14																	20846616		2203	4300	6503	19916456	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5431G>C	14.37:g.20846616C>G	ENSP00000262715:p.Glu1811Gln		19916456	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919540	0.73098	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.51574	0.7;1.6;1.6	5.59	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.361046	0.31495	N	0.007546	T	0.51924	0.1703	L	0.43701	1.375	0.36681	D	0.879036	P;D;D;D	0.62365	0.896;0.971;0.977;0.991	P;P;P;P	0.59825	0.673;0.714;0.691;0.864	T	0.58864	-0.7561	10	0.54805	T	0.06	-12.1726	7.6379	0.28277	0.0:0.8352:0.0:0.1648	.	149;1703;1154;1811	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Q	1811;1811;1703;149	ENSP00000262715:E1811Q;ENSP00000452574:E1703Q;ENSP00000438849:E149Q	ENSP00000262715:E1811Q	E	-	1	0	TEP1	19916456	0.737000	0.28175	0.870000	0.34147	0.901000	0.52897	1.402000	0.34600	2.638000	0.89438	0.557000	0.71058	GAG		0.582	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		G	20846616	C	G	20846616	3	3	311	1	0	0	0	0	1	0	0	0	15759	922	32	3	2524	3	TEP1	14	20846616	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08		20846616	86502924	61	16683											
ACIN1	22985	broad.mit.edu	37	14	23547402	23547402	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr14:23547402T>G	ENST00000262710.1	-	8	2582	c.2255A>C	c.(2254-2256)cAg>cCg	p.Q752P	ACIN1_ENST00000605057.1_Missense_Mutation_p.Q694P|ACIN1_ENST00000457657.1_Missense_Mutation_p.Q712P|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000555053.1_Missense_Mutation_p.Q752P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	752					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q752P(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATGAGAGGTCTGAGTCTCTGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	14											235	224	228					14																	23547402		2203	4300	6503	22617242	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2255A>C	14.37:g.23547402T>G	ENSP00000262710:p.Gln752Pro		22617242	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.555014	0.45487	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.06068	3.42;3.42;3.35	5.99	2.12	0.27331	.	0.207707	0.24379	N	0.039027	T	0.05502	0.0145	L	0.43152	1.355	0.49582	D	0.999809	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.004;0.002;0.003	T	0.35674	-0.9779	10	0.25751	T	0.34	-2.314	6.7215	0.23332	0.1396:0.0:0.367:0.4934	.	752;752;712	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	P	752;712;752	ENSP00000262710:Q752P;ENSP00000405677:Q712P;ENSP00000451328:Q752P	ENSP00000262710:Q752P	Q	-	2	0	ACIN1	22617242	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	0.208000	0.17415	0.480000	0.27534	0.533000	0.62120	CAG		0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		G	23547402	T	G	23547402	3	3	311	1	0	0	0	0	1	0	0	0	142	1580	55	5	1965	5	ACIN1	14	23547402	Missense_Mutation	SNP	T	TCGA-25-2392-01A-01W-0799-08	2700786	23547402	83802138	62	16684											
GZMH	2999	broad.mit.edu	37	14	25076888	25076888	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr14:25076888G>T	ENST00000216338.4	-	3	313	c.269C>A	c.(268-270)cCt>cAt	p.P90H	GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.P90H|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)	p.P90H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TCTTTTCACAGGGATAAACTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	14											209	199	202					14																	25076888		2203	4300	6503	24146728	SO:0001583	missense	2999			M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.269C>A	14.37:g.25076888G>T	ENSP00000216338:p.Pro90His		24146728	G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	ENST00000216338.4	37	CCDS9632.1	.	.	.	.	.	.	.	.	.	.	g	10.22	1.290628	0.23564	.	.	ENSG00000100450	ENST00000216338;ENST00000382548	D;D	0.88509	-2.39;-2.39	4.7	-2.86	0.05717	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84999	0.5597	N	0.25094	0.71	0.09310	N	1	B;B	0.30021	0.089;0.265	P;B	0.44897	0.463;0.209	T	0.78555	-0.2159	9	0.66056	D	0.02	.	9.731	0.40361	0.0:0.4795:0.2496:0.2709	.	90;90	Q6XGZ1;P20718	.;GRAH_HUMAN	H	90	ENSP00000216338:P90H;ENSP00000371988:P90H	ENSP00000216338:P90H	P	-	2	0	GZMH	24146728	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.058000	0.03482	-0.664000	0.05324	-0.397000	0.06425	CCT		0.527	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		T	25076888	G	T	25076888	3	4	311	1	0	0	0	0	1	0	0	0	6917	1000	35	3	483	3	GZMH	14	25076888	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	1529486	25076888	82272652	63	16685											
EXOC5	10640	broad.mit.edu	37	14	57710915	57710915	+	Silent	SNP	A	A	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr14:57710915A>G	ENST00000413566.2	-	4	792	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L	EXOC5_ENST00000556911.1_5'UTR|EXOC5_ENST00000340918.7_Intron	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	145					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.L145L(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGATTTCAATTCTCCATCT	0.393																																																1	Substitution - coding silent(1)	ovary(1)	14											92	84	86					14																	57710915		1841	4079	5920	56780668	SO:0001819	synonymous_variant	10640			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.433T>C	14.37:g.57710915A>G			56780668	B2R6C5	Silent	SNP	ENST00000413566.2	37	CCDS45111.1																																																																																				0.393	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		G	57710915	A	G	57710915	2	3	311	1	0	0	0	0	0	0	0	1	5307	98	4	4		4	EXOC5	14	57710915	Silent	SNP	A	TCGA-25-2392-01A-01W-0799-08	32634027	57710915	49638625	64	16686											
DIS3L	115752	broad.mit.edu	37	15	66625341	66625341	+	Splice_Site	SNP	G	G	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr15:66625341G>C	ENST00000319212.4	+	17	2906		c.e17-1		DIS3L_ENST00000319194.5_Splice_Site|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease						RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCTATGCTAGGTAAGAATAT	0.284																																																1	Unknown(1)	ovary(1)	15											38	40	39					15																	66625341		2199	4297	6496	64412395	SO:0001630	splice_region_variant	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2857-1G>C	15.37:g.66625341G>C			64412395	Q8N1N8|Q8WTU9|Q96CM7	Splice_Site	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584742	0.65992	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	.	.	.	5.64	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8272	0.63357	0.0734:0.0:0.9266:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIS3L	64412395	1.000000	0.71417	0.751000	0.31187	0.892000	0.51952	7.761000	0.85260	1.381000	0.46364	0.655000	0.94253	.		0.284	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	Intron	C	66625341	G	C	66625341	5	2	311	1	0	0	0	0	0	0	1	0	4536	1014	35	3	2922	3	DIS3L	15	66625341	Splice_Site	SNP	G	TCGA-25-2392-01A-01W-0799-08		66625341	35906051	65	16687											
ADAMTS17	170691	broad.mit.edu	37	15	100802570	100802570	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr15:100802570A>C	ENST00000268070.4	-	5	965	c.860T>G	c.(859-861)cTa>cGa	p.L287R	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	287	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L287R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACGTTGTCGTAGCAGGACAAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	15											156	149	152					15																	100802570		2203	4300	6503	98620093	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.860T>G	15.37:g.100802570A>C	ENSP00000268070:p.Leu287Arg		98620093	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.864345	0.71949	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.87491	-2.26	5.6	5.6	0.85130	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.179793	0.36066	N	0.002806	D	0.93993	0.8076	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.94864	0.8024	10	0.87932	D	0	.	15.7961	0.78412	1.0:0.0:0.0:0.0	.	44;287	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	R	287;44	ENSP00000268070:L287R	ENSP00000268070:L287R	L	-	2	0	ADAMTS17	98620093	1.000000	0.71417	0.910000	0.35882	0.552000	0.35366	7.460000	0.80816	2.131000	0.65755	0.533000	0.62120	CTA		0.453	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		C	100802570	A	C	100802570	3	2	311	1	0	0	0	0	1	0	0	0	262	420	15	5	2499	5	ADAMTS17	15	100802570	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	34177229	100802570	1728822	66	16688											
SH2B1	25970	broad.mit.edu	37	16	28880331	28880331	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr16:28880331A>C	ENST00000322610.8	+	6	1485	c.1046A>C	c.(1045-1047)gAa>gCa	p.E349A	SH2B1_ENST00000395532.4_Missense_Mutation_p.E349A|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.E349A|SH2B1_ENST00000538342.1_Missense_Mutation_p.E13A|SH2B1_ENST00000545570.1_Missense_Mutation_p.E39A|SH2B1_ENST00000337120.5_Missense_Mutation_p.E349A			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	349	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.E349A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTGTAGGTGGAAGGTCCATCC	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											125	114	118					16																	28880331		2197	4300	6497	28787832	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1046A>C	16.37:g.28880331A>C	ENSP00000321221:p.Glu349Ala		28787832	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591774	0.46214	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	4.83	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.342731	0.26272	N	0.025321	T	0.76835	0.4043	L	0.31578	0.945	0.44579	D	0.997547	D;D;P;P;B	0.76494	0.97;0.999;0.95;0.95;0.309	P;D;D;D;P	0.83275	0.681;0.996;0.927;0.927;0.565	T	0.76063	-0.3096	10	0.41790	T	0.15	-15.0559	10.1466	0.42767	0.8323:0.1677:0.0:0.0	.	13;39;349;349;349	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	A	349;39;349;13;349;349	ENSP00000321221:E349A;ENSP00000440354:E39A;ENSP00000352232:E349A;ENSP00000438784:E13A;ENSP00000378903:E349A;ENSP00000337163:E349A	ENSP00000321221:E349A	E	+	2	0	SH2B1	28787832	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	3.534000	0.53568	2.025000	0.59659	0.383000	0.25322	GAA		0.542	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		C	28880331	A	C	28880331	3	2	311	1	0	0	0	0	1	0	0	0	14230	246	9	5	1056	5	SH2B1	16	28880331	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08		28880331	61474422	67	16689											
NFATC2IP	84901	broad.mit.edu	37	16	28967617	28967617	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr16:28967617A>G	ENST00000320805.4	+	5	880	c.805A>G	c.(805-807)Atc>Gtc	p.I269V	NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000568148.1_5'Flank|RP11-264B17.2_ENST00000568057.1_RNA|MIR4517_ENST00000578855.1_RNA|NFATC2IP_ENST00000562977.1_Intron|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	269					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I269V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CCCACTCAAAATCCGTTGCCG	0.607																																																1	Substitution - Missense(1)	ovary(1)	16											45	43	44					16																	28967617		2197	4300	6497	28875118	SO:0001583	missense	84901			AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.805A>G	16.37:g.28967617A>G	ENSP00000324792:p.Ile269Val		28875118	B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	A	7.664	0.685535	0.14973	.	.	ENSG00000176953	ENST00000320805	T	0.12569	2.67	5.49	3.19	0.36642	Ubiquitin (1);	0.456661	0.20131	N	0.098600	T	0.05502	0.0145	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.25082	-1.0142	10	0.02654	T	1	-12.5623	4.803	0.13307	0.7184:0.0:0.2816:0.0	.	269	Q8NCF5	NF2IP_HUMAN	V	269	ENSP00000324792:I269V	ENSP00000324792:I269V	I	+	1	0	NFATC2IP	28875118	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.836000	0.27545	0.925000	0.37094	0.533000	0.62120	ATC		0.607	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		G	28967617	A	G	28967617	3	3	311	1	0	0	0	0	1	0	0	0	10363	101	4	4	823	4	NFATC2IP	16	28967617	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	87286	28967617	61387136	68	16690											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	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	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	311	1	0	0	0	0	1	0	0	0	16381	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08		7577121	73618089	69	16691											
CDK12	51755	broad.mit.edu	37	17	37665993	37665993	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr17:37665993G>T	ENST00000447079.4	+	7	2678	c.2645G>T	c.(2644-2646)cGg>cTg	p.R882L	CDK12_ENST00000430627.2_Missense_Mutation_p.R882L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.R882L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGACTTGCTCGGCTCTATAAC	0.348			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Missense(1)	ovary(1)	17											126	127	126					17																	37665993		2203	4300	6503	34919519	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2645G>T	17.37:g.37665993G>T	ENSP00000398880:p.Arg882Leu		34919519	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498622	0.85069	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.66995	-0.24;-0.24	5.35	5.35	0.76521	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	0.40640	N	0.001044	D	0.85435	0.5696	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.87786	0.2615	10	0.87932	D	0	-9.067	19.4455	0.94844	0.0:0.0:1.0:0.0	.	881;882;882	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	L	882	ENSP00000407720:R882L;ENSP00000398880:R882L	ENSP00000407720:R882L	R	+	2	0	CDK12	34919519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.666000	0.90696	0.650000	0.86243	CGG		0.348	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		T	37665993	G	T	37665993	3	4	311	1	0	0	0	0	1	0	0	0	3128	1116	39	3	2671	3	CDK12	17	37665993	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	30088872	37665993	43529217	70	16692											
EZH1	2145	broad.mit.edu	37	17	40870052	40870052	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr17:40870052T>C	ENST00000428826.2	-	10	1086	c.965A>G	c.(964-966)aAg>aGg	p.K322R	EZH1_ENST00000415827.2_Missense_Mutation_p.K313R|EZH1_ENST00000435174.1_Missense_Mutation_p.K183R|EZH1_ENST00000590078.1_Missense_Mutation_p.K252R|EZH1_ENST00000592743.1_Missense_Mutation_p.K322R|EZH1_ENST00000585893.1_Missense_Mutation_p.K282R			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	322					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.K322R(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTCTTTATTCTTGCGTTTATA	0.398																																																1	Substitution - Missense(1)	ovary(1)	17											130	120	123					17																	40870052		2203	4300	6503	38123578	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.965A>G	17.37:g.40870052T>C	ENSP00000404658:p.Lys322Arg		38123578	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274346	0.59649	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.79653	-1.29;-1.29	4.64	2.42	0.29668	.	0.137072	0.64402	N	0.000003	T	0.75997	0.3926	L	0.35854	1.095	0.45464	D	0.998433	B;B;B;B	0.28512	0.214;0.054;0.054;0.032	B;B;B;B	0.43508	0.422;0.096;0.096;0.044	T	0.66626	-0.5876	10	0.33141	T	0.24	.	7.3386	0.26623	0.0:0.2506:0.0:0.7494	.	183;282;328;322	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	R	325;322;282;183	ENSP00000404658:K322R;ENSP00000404071:K183R	ENSP00000264646:K325R	K	-	2	0	EZH1	38123578	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.035000	0.57297	0.398000	0.25338	0.533000	0.62120	AAG		0.398	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		C	40870052	T	C	40870052	3	2	311	1	0	0	0	0	1	0	0	0	5333	1609	56	4	1326	4	EZH1	17	40870052	Missense_Mutation	SNP	T	TCGA-25-2392-01A-01W-0799-08	3204059	40870052	40325158	71	16693											
HEXIM1	10614	broad.mit.edu	37	17	43226606	43226606	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr17:43226606A>T	ENST00000332499.2	+	1	1923	c.49A>T	c.(49-51)Aac>Tac	p.N17Y	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	17					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)	p.N17Y(1)		breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCAAACTAGCAACTGTACAGG	0.547											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	17											88	100	96					17																	43226606		2203	4299	6502	40582389	SO:0001583	missense	10614			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.49A>T	17.37:g.43226606A>T	ENSP00000328773:p.Asn17Tyr	914	40582389	B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.166014	0.38217	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.27	4.27	0.50696	.	0.432432	0.17098	U	0.187090	T	0.60209	0.2251	L	0.44542	1.39	0.33771	D	0.623085	D	0.64830	0.994	P	0.62740	0.906	T	0.70371	-0.4890	9	0.72032	D	0.01	-17.6156	9.716	0.40274	1.0:0.0:0.0:0.0	.	17	O94992	HEXI1_HUMAN	Y	17	.	ENSP00000328773:N17Y	N	+	1	0	HEXIM1	40582389	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	1.596000	0.36718	1.805000	0.52779	0.533000	0.62120	AAC		0.547	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		T	43226606	A	T	43226606	3	4	311	1	0	0	0	0	1	0	0	0	7076	130	5	5	51	5	HEXIM1	17	43226606	Missense_Mutation	SNP	A	TCGA-25-2392-01A-01W-0799-08	2356554	43226606	37968604	72	16694											
STRADA	92335	broad.mit.edu	37	17	61784669	61784669	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr17:61784669G>C	ENST00000336174.6	-	9	803	c.691C>G	c.(691-693)Cac>Gac	p.H231D	STRADA_ENST00000582137.1_Missense_Mutation_p.H202D|STRADA_ENST00000392950.4_Missense_Mutation_p.H194D|STRADA_ENST00000245865.5_Missense_Mutation_p.H173D|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000447001.3_Missense_Mutation_p.H187D|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000579340.1_Intron|STRADA_ENST00000375840.4_Missense_Mutation_p.H173D	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.H231D(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GGAAAATCGTGGACCACTCGC	0.592																																																1	Substitution - Missense(1)	ovary(1)	17											107	95	99					17																	61784669		2203	4300	6503	59138401	SO:0001583	missense	92335			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.691C>G	17.37:g.61784669G>C	ENSP00000336655:p.His231Asp		59138401	B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	g	31	5.065578	0.93898	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	L	0.41906	1.305	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.991;0.986;0.966;0.991;0.972;0.943;0.999	T	0.74791	-0.3545	10	0.59425	D	0.04	.	19.6867	0.95982	0.0:0.0:1.0:0.0	.	202;187;173;173;194;194;231	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	D	231;173;187;194;193	ENSP00000336655:H231D;ENSP00000365000:H173D;ENSP00000398841:H187D;ENSP00000376677:H194D	ENSP00000245865:H193D	H	-	1	0	STRADA	59138401	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.417000	0.97391	2.720000	0.93068	0.556000	0.70494	CAC		0.592	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			C	61784669	G	C	61784669	3	2	311	1	0	0	0	0	1	0	0	0	15326	1348	47	3	682	3	STRADA	17	61784669	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	18558063	61784669	19410541	73	16695											
OSBPL1A	114876	broad.mit.edu	37	18	21746586	21746586	+	Silent	SNP	G	G	A	rs555122944		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr18:21746586G>A	ENST00000319481.3	-	26	2822	c.2616C>T	c.(2614-2616)tgC>tgT	p.C872C	OSBPL1A_ENST00000399443.3_Silent_p.C359C|OSBPL1A_ENST00000357041.4_Silent_p.C490C	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	872					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.C872C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GCCGTAACCTGCAGTCTGTCT	0.428													G|||	1	0.000199681	0	0.0014	5008	,	,		19522	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	18											215	188	197					18																	21746586		2203	4300	6503	20000584	SO:0001819	synonymous_variant	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2616C>T	18.37:g.21746586G>A			20000584	B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	CCDS11884.1																																																																																				0.428	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		A	21746586	G	A	21746586	2	1	311	1	0	0	0	0	0	0	0	1	11277	1311	46	2		2	OSBPL1A	18	21746586	Silent	SNP	G	TCGA-25-2392-01A-01W-0799-08		21746586	56330662	74	16696											
GALNT1	2589	broad.mit.edu	37	18	33243591	33243591	+	Splice_Site	SNP	G	G	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr18:33243591G>C	ENST00000269195.5	+	2	242		c.e2-1		GALNT1_ENST00000591081.1_Splice_Site|GALNT1_ENST00000537549.1_Splice_Site	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.?(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CCTATTCTTAGTTCTAGAGCC	0.348																																																1	Unknown(1)	ovary(1)	18											64	64	64					18																	33243591		2203	4300	6503	31497589	SO:0001630	splice_region_variant	2589				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.140-1G>C	18.37:g.33243591G>C			31497589	Q86TJ7|Q9UM86	Splice_Site	SNP	ENST00000269195.5	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183325	0.57800	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.09	0.64982	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT1	31497589	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.765000	0.47621	2.407000	0.81776	0.563000	0.77884	.		0.348	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474	Intron	C	33243591	G	C	33243591	5	2	311	1	0	0	0	0	0	0	1	0	6207	1043	36	3	145	3	GALNT1	18	33243591	Splice_Site	SNP	G	TCGA-25-2392-01A-01W-0799-08	11497005	33243591	44833657	75	16697											
CELF4	56853	broad.mit.edu	37	18	34853005	34853005	+	Missense_Mutation	SNP	G	G	A	rs372830155		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr18:34853005G>A	ENST00000591282.1	-	7	922	c.923C>T	c.(922-924)gCg>gTg	p.A308V	CELF4_ENST00000588597.1_Missense_Mutation_p.A297V|CELF4_ENST00000412753.1_Missense_Mutation_p.A307V|CELF4_ENST00000420428.2_Missense_Mutation_p.A308V|CELF4_ENST00000603232.1_Missense_Mutation_p.A307V|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000361795.5_Missense_Mutation_p.A306V|CELF4_ENST00000334919.5_Missense_Mutation_p.A298V|CELF4_ENST00000601019.1_Missense_Mutation_p.A306V|CELF4_ENST00000591287.1_Missense_Mutation_p.A307V|RP11-797E24.3_ENST00000588766.1_RNA			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	308	Ala-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.A308V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGGTGCGGCCGCCAGGCCATT	0.652																																																1	Substitution - Missense(1)	ovary(1)	18						G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	28	31	30		920,917,893,923	5.2	1	18		30	2,8594		0,2,4296	no	missense,missense,missense,missense	CELF4	NM_001025087.1,NM_001025088.1,NM_001025089.1,NM_020180.3	64,64,64,64	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign	307/486,306/485,298/449,308/487	34853005	2,13000	2203	4298	6501	33107003	SO:0001583	missense	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.923C>T	18.37:g.34853005G>A	ENSP00000464794:p.Ala308Val		33107003	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905577	0.33628	0.0	2.33E-4	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T	0.75260	-0.92;-0.87;-0.92	5.22	5.22	0.72569	Nucleotide-binding, alpha-beta plait (1);	0.160554	0.56097	D	0.000030	T	0.56016	0.1957	N	0.03948	-0.315	0.47778	D	0.999515	B;B;B;B;B;B	0.28998	0.0;0.001;0.23;0.172;0.0;0.001	B;B;B;B;B;B	0.30495	0.002;0.0;0.116;0.023;0.002;0.002	T	0.55444	-0.8140	10	0.27785	T	0.31	-7.6448	18.9627	0.92682	0.0:0.0:1.0:0.0	.	306;297;33;298;307;308	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	V	308;307;306;298	ENSP00000355089:A308V;ENSP00000406823:A307V;ENSP00000335631:A298V	ENSP00000335631:A298V	A	-	2	0	CELF4	33107003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.336000	0.59304	2.715000	0.92844	0.655000	0.94253	GCG		0.652	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		A	34853005	G	A	34853005	3	1	311	1	0	0	0	0	1	0	0	0	3218	1087	38	1	561	1	CELF4	18	34853005	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08	1609414	34853005	43224243	76	16698											
KIAA1683	80726	broad.mit.edu	37	19	18376230	18376230	+	Missense_Mutation	SNP	G	G	A	rs375526476		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr19:18376230G>A	ENST00000600328.3	-	3	2313	c.2120C>T	c.(2119-2121)gCc>gTc	p.A707V	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A661V|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A707V			Q9H0B3	K1683_HUMAN	KIAA1683	707						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A707V(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCCAGATGGGCCAGGGATGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											61	61	61					19																	18376230		2203	4300	6503	18237230	SO:0001583	missense	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2120C>T	19.37:g.18376230G>A	ENSP00000470780:p.Ala707Val		18237230	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875015	0.33162	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000411671	T;T;T	0.03689	3.91;3.92;3.84	4.81	-6.77	0.01727	.	0.960292	0.08445	N	0.944795	T	0.03608	0.0103	L	0.50333	1.59	0.09310	N	1	P;B	0.47106	0.89;0.062	B;B	0.43413	0.419;0.022	T	0.26815	-1.0092	10	0.49607	T	0.09	-0.6991	3.4305	0.07426	0.0801:0.2308:0.2314:0.4577	.	707;707	E9PDE0;Q9H0B3	.;K1683_HUMAN	V	707;707;661;321	ENSP00000376213:A707V;ENSP00000352774:A707V;ENSP00000404501:A661V	ENSP00000352774:A707V	A	-	2	0	KIAA1683	18237230	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.220000	0.02971	-0.461000	0.06993	-1.383000	0.01170	GCC		0.622	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			A	18376230	G	A	18376230	3	1	311	1	0	0	0	0	1	0	0	0	8251	1203	42	2	1991	2	KIAA1683	19	18376230	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08		18376230	40752753	77	16699											
ZNF208	7757	broad.mit.edu	37	19	22155997	22155997	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr19:22155997T>G	ENST00000397126.4	-	4	1987	c.1839A>C	c.(1837-1839)gaA>gaC	p.E613D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E513D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTTGCCACATTCTTCACATT	0.368																																																1	Substitution - Missense(1)	ovary(1)	19											64	68	67					19																	22155997		2110	4245	6355	21947837	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1839A>C	19.37:g.22155997T>G	ENSP00000380315:p.Glu613Asp		21947837		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	9.418	1.082163	0.20309	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.35973	1.28	2.8	-1.92	0.07618	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42223	0.1193	.	.	.	0.20403	N	0.999904	D	0.57257	0.979	P	0.54889	0.763	T	0.38779	-0.9645	8	0.49607	T	0.09	.	9.0934	0.36625	0.0:0.7813:0.0:0.2187	.	513	O43345	ZN208_HUMAN	D	613;513	ENSP00000380315:E613D	ENSP00000380315:E613D	E	-	3	2	ZNF208	21947837	0.000000	0.05858	0.129000	0.21949	0.112000	0.19704	-5.922000	0.00090	-0.354000	0.08212	0.254000	0.18369	GAA		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22155997	T	G	22155997	3	3	311	1	0	0	0	0	1	0	0	0	17766	1490	52	5	2007	5	ZNF208	19	22155997	Missense_Mutation	SNP	T	TCGA-25-2392-01A-01W-0799-08	3779767	22155997	36972986	78	16700											
DPY19L3	147991	broad.mit.edu	37	19	32959703	32959703	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr19:32959703C>G	ENST00000342179.5	+	16	1896	c.1681C>G	c.(1681-1683)Ctg>Gtg	p.L561V	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.L561V|DPY19L3_ENST00000586987.1_Missense_Mutation_p.L561V	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	561						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L561V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TACAGTGGAGCTGATGAACTG	0.333																																																1	Substitution - Missense(1)	ovary(1)	19											67	72	70					19																	32959703		2203	4300	6503	37651543	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1681C>G	19.37:g.32959703C>G	ENSP00000344937:p.Leu561Val		37651543	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066772	0.76301	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.69926	-0.44;-0.44	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.82181	0.4981	M	0.82823	2.61	0.48288	D	0.999624	D	0.89917	1.0	D	0.87578	0.998	D	0.84003	0.0344	10	0.66056	D	0.02	-6.5755	13.0761	0.59087	0.0:0.9268:0.0:0.0732	.	561	Q6ZPD9	D19L3_HUMAN	V	561	ENSP00000376081:L561V;ENSP00000344937:L561V	ENSP00000344937:L561V	L	+	1	2	DPY19L3	37651543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.614000	0.67695	2.676000	0.91093	0.563000	0.77884	CTG		0.333	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		G	32959703	C	G	32959703	3	3	311	1	0	0	0	0	1	0	0	0	4742	796	28	3	1739	3	DPY19L3	19	32959703	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	10803706	32959703	26169280	79	16701											
ZNF671	79891	broad.mit.edu	37	19	58232979	58232979	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr19:58232979C>A	ENST00000317398.6	-	4	570	c.475G>T	c.(475-477)Gca>Tca	p.A159S	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.A61S|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A159S(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCAGCTCTGCCATGAGAGTC	0.478																																																1	Substitution - Missense(1)	ovary(1)	19											127	123	124					19																	58232979		2203	4300	6503	62924791	SO:0001583	missense	79891				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.475G>T	19.37:g.58232979C>A	ENSP00000321848:p.Ala159Ser		62924791	A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	6.445	0.450220	0.12223	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.06218	3.46;3.33	1.59	0.522	0.17053	.	.	.	.	.	T	0.02610	0.0079	N	0.13098	0.295	0.09310	N	1	B	0.24576	0.106	B	0.14578	0.011	T	0.45323	-0.9269	9	0.06099	T	0.92	.	3.9329	0.09293	0.0:0.7641:0.0:0.2359	.	159	Q8TAW3	ZN671_HUMAN	S	159;61	ENSP00000321848:A159S;ENSP00000338670:A61S	ENSP00000321848:A159S	A	-	1	0	ZNF671	62924791	0.000000	0.05858	0.017000	0.16124	0.096000	0.18686	-0.038000	0.12144	0.233000	0.21120	0.205000	0.17691	GCA		0.478	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		A	58232979	C	A	58232979	3	1	311	1	0	0	0	0	1	0	0	0	18078	739	26	3	1133	3	ZNF671	19	58232979	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	25273276	58232979	896004	80	16702											
CTNNBL1	56259	broad.mit.edu	37	20	36488708	36488708	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr20:36488708G>A	ENST00000361383.6	+	15	1682	c.1565G>A	c.(1564-1566)cGa>cAa	p.R522Q	CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R270Q|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.R495Q|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R335Q|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	522					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)	p.R522Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTAAACATGCGAGGAAGCTCC	0.443																																					Ovarian(184;582 2038 3273 4106 42608)											1	Substitution - Missense(1)	ovary(1)	20											194	169	177					20																	36488708		2203	4300	6503	35922122	SO:0001583	missense	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1565G>A	20.37:g.36488708G>A	ENSP00000355050:p.Arg522Gln		35922122	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990438	0.93106	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.47528	0.84;0.86;0.87;0.88	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	L	0.42529	1.33	0.80722	D	1	P;D	0.89917	0.919;1.0	B;D	0.71414	0.402;0.973	T	0.58301	-0.7660	10	0.38643	T	0.18	-5.3226	18.0467	0.89335	0.0:0.0:1.0:0.0	.	522;335	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	Q	522;495;335;270	ENSP00000355050:R522Q;ENSP00000384355:R495Q;ENSP00000362572:R335Q;ENSP00000362568:R270Q	ENSP00000355050:R522Q	R	+	2	0	CTNNBL1	35922122	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.375000	0.97178	2.488000	0.83962	0.655000	0.94253	CGA		0.443	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		A	36488708	G	A	36488708	3	1	311	1	0	0	0	0	1	0	0	0	4018	1058	37	1	1623	1	CTNNBL1	20	36488708	Missense_Mutation	SNP	G	TCGA-25-2392-01A-01W-0799-08		36488708	26536812	81	16703											
PABPC1L	80336	broad.mit.edu	37	20	43550371	43550371	+	Splice_Site	SNP	A	A	C	rs367561929		TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr20:43550371A>C	ENST00000217073.2	+	6	875	c.875A>C	c.(874-876)cAg>cCg	p.Q292P	PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_Splice_Site_p.Q292P|PABPC1L_ENST00000255136.3_Splice_Site_p.Q292P|PABPC1L_ENST00000217074.4_Splice_Site_p.Q292P			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	292					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q292P(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AGGCGTTACCAGGTGAGGTCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	20											60	67	65					20																	43550371		1568	3582	5150	42983785	SO:0001630	splice_region_variant	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.876+1A>C	20.37:g.43550371A>C			42983785	Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.397747	0.42512	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	4.98	3.89	0.44902	Nucleotide-binding, alpha-beta plait (1);	0.165081	0.56097	D	0.000033	T	0.30355	0.0762	M	0.93978	3.48	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	T	0.17837	-1.0356	10	0.87932	D	0	.	10.3031	0.43663	0.9212:0.0:0.0788:0.0	.	292	Q4VXU2	PAP1L_HUMAN	P	292	ENSP00000217074:Q292P;ENSP00000255136:Q292P;ENSP00000445661:Q292P;ENSP00000217073:Q292P	ENSP00000217073:Q292P	Q	+	2	0	PABPC1L	42983785	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.475000	0.81041	0.865000	0.35603	0.460000	0.39030	CAG		0.602	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		Missense_Mutation	C	43550371	A	C	43550371	5	2	311	1	0	0	0	0	0	0	1	0	11364	202	7	5	897	5	PABPC1L	20	43550371	Splice_Site	SNP	A	TCGA-25-2392-01A-01W-0799-08	7061663	43550371	19475149	82	16704											
LIMK2	3985	broad.mit.edu	37	22	31658653	31658653	+	Silent	SNP	C	C	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr22:31658653C>T	ENST00000331728.4	+	7	844	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	LIMK2_ENST00000406516.1_Silent_p.L166L|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Silent_p.L223L|LIMK2_ENST00000333611.4_Silent_p.L223L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	244					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.L244L(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTCCCAACGCCTGGACCAGCT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	22											67	72	70					22																	31658653		2203	4300	6503	29988653	SO:0001819	synonymous_variant	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.730C>T	22.37:g.31658653C>T			29988653	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	CCDS13891.1																																																																																				0.607	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		T	31658653	C	T	31658653	2	4	311	1	0	0	0	0	0	0	0	1	8802	680	24	2		2	LIMK2	22	31658653	Silent	SNP	C	TCGA-25-2392-01A-01W-0799-08		31658653	19645913	83	16705											
ENTHD1	150350	broad.mit.edu	37	22	40283742	40283742	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chr22:40283742C>T	ENST00000325157.6	-	2	261	c.11G>A	c.(10-12)aGg>aAg	p.R4K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	4								p.R4K(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CACTTGTCTCCTGAACGCCAT	0.393																																																1	Substitution - Missense(1)	ovary(1)	22											56	55	55					22																	40283742		2203	4300	6503	38613688	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.11G>A	22.37:g.40283742C>T	ENSP00000317431:p.Arg4Lys		38613688	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018050	0.75275	.	.	ENSG00000176177	ENST00000325157	T	0.43688	0.94	5.82	3.75	0.43078	ENTH/VHS (1);	0.140299	0.47852	N	0.000219	T	0.38268	0.1034	L	0.60067	1.865	0.43734	D	0.996226	P	0.35226	0.491	B	0.34418	0.182	T	0.31752	-0.9932	10	0.42905	T	0.14	-13.3498	11.513	0.50504	0.0:0.855:0.0:0.145	.	4	Q8IYW4	ENTD1_HUMAN	K	4	ENSP00000317431:R4K	ENSP00000317431:R4K	R	-	2	0	ENTHD1	38613688	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.878000	0.28126	1.472000	0.48140	0.655000	0.94253	AGG		0.393	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		T	40283742	C	T	40283742	3	4	311	1	0	0	0	0	1	0	0	0	5137	681	24	2	1836	2	ENTHD1	22	40283742	Missense_Mutation	SNP	C	TCGA-25-2392-01A-01W-0799-08	8625089	40283742	11020824	84	16706											
RPS6KA3	6197	broad.mit.edu	37	X	20194459	20194459	+	Silent	SNP	T	T	C			TCGA-25-2392-01A-01W-0799-08	TCGA-25-2392-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	dfb3124f-ba2b-4365-9d01-b56ac9bb43d8	3752ca08-3722-4592-9da5-1328a1ab0994	g.chrX:20194459T>C	ENST00000379565.3	-	13	1218	c.1011A>G	c.(1009-1011)agA>agG	p.R337R	RPS6KA3_ENST00000540702.1_Silent_p.R309R|RPS6KA3_ENST00000544447.1_Silent_p.R309R|RPS6KA3_ENST00000379548.4_Silent_p.R308R	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	337	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R337R(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GAATTTCTCTTCTATACAGTT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	X											63	60	61					X																	20194459		2203	4300	6503	20104380	SO:0001819	synonymous_variant	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1011A>G	X.37:g.20194459T>C			20104380	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	CCDS14197.1																																																																																				0.343	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		C	20194459	T	C	20194459	2	2	311	1	0	0	0	0	0	0	0	1	13655	1780	62	4		4	RPS6KA3	23	20194459	Silent	SNP	T	TCGA-25-2392-01A-01W-0799-08		20194459	135076101	85	16707											
MACF1	23499	broad.mit.edu	37	1	39797856	39797856	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr1:39797856C>G	ENST00000372915.3	+	36	5698	c.5611C>G	c.(5611-5613)Cta>Gta	p.L1871V	MACF1_ENST00000567887.1_Missense_Mutation_p.L1903V|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L306V|MACF1_ENST00000564288.1_Missense_Mutation_p.L1866V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1871					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L306V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACAGATGCCCTAGAACAAGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											105	105	105					1																	39797856		2203	4300	6503	39570443	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5611C>G	1.37:g.39797856C>G	ENSP00000362006:p.Leu1871Val		39570443	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	11.31	1.601036	0.28534	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.72282	-0.64;-0.64	5.34	0.0307	0.14168	.	0.000000	0.40385	N	0.001103	T	0.73401	0.3582	L	0.37850	1.14	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.71669	-0.4523	10	0.72032	D	0.01	.	10.4271	0.44385	0.0:0.4831:0.0:0.5169	.	1871	Q9UPN3	MACF1_HUMAN	V	1871;306	ENSP00000362006:L1871V;ENSP00000289893:L306V	ENSP00000289893:L306V	L	+	1	2	MACF1	39570443	0.366000	0.25014	0.991000	0.47740	0.991000	0.79684	0.185000	0.16958	-0.012000	0.14223	-0.266000	0.10368	CTA		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39797856	C	G	39797856	3	3	312	1	0	0	0	0	1	0	0	0	9144	680	24	3	5687	3	MACF1	1	39797856	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08		39797856	209452765	1	16708											
PIGK	10026	broad.mit.edu	37	1	77620287	77620287	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr1:77620287C>T	ENST00000370812.3	-	9	856	c.833G>A	c.(832-834)aGt>aAt	p.S278N	PIGK_ENST00000359130.1_Missense_Mutation_p.S278N|PIGK_ENST00000445065.1_Missense_Mutation_p.S184N|PIGK_ENST00000370813.5_Missense_Mutation_p.S202N|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	278					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)	p.S278N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						CACACACAGACTTTTGGGACA	0.348																																																1	Substitution - Missense(1)	ovary(1)	1											59	58	59					1																	77620287		2202	4299	6501	77392875	SO:0001583	missense	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"Phosphatidylinositol glycan anchor biosynthesis"	8965	protein-coding gene	gene with protein product	"GPI transamidase subunit"	605087	"phosphatidylinositol glycan, class K"			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.833G>A	1.37:g.77620287C>T	ENSP00000359848:p.Ser278Asn		77392875	B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072306	0.55646	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.46451	0.87;0.87;0.87;0.9	5.11	4.2	0.49525	.	0.039287	0.85682	N	0.000000	T	0.32615	0.0835	M	0.63843	1.955	0.58432	D	0.999999	B;B;B;B	0.29188	0.236;0.236;0.018;0.013	B;B;B;B	0.37943	0.261;0.261;0.055;0.065	T	0.28299	-1.0048	10	0.48119	T	0.1	-25.9268	13.7351	0.62813	0.0:0.9252:0.0:0.0748	.	202;184;278;278	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	N	278;184;202;278	ENSP00000359848:S278N;ENSP00000388854:S184N;ENSP00000359849:S202N;ENSP00000352041:S278N	ENSP00000352041:S278N	S	-	2	0	PIGK	77392875	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	7.387000	0.79785	1.286000	0.44565	0.591000	0.81541	AGT		0.348	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		T	77620287	C	T	77620287	3	4	312	1	0	0	0	0	1	0	0	0	11890	565	20	2	366	2	PIGK	1	77620287	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	37822431	77620287	171630334	2	16709											
CELSR2	1952	broad.mit.edu	37	1	109794761	109794761	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr1:109794761C>T	ENST00000271332.3	+	1	2121	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	687	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A687V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTGTTACCGCCTCCGATGGC	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)											1	Substitution - Missense(1)	ovary(1)	1											111	106	108					1																	109794761		2203	4300	6503	109596284	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2060C>T	1.37:g.109794761C>T	ENSP00000271332:p.Ala687Val		109596284	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	17.91	3.504009	0.64410	.	.	ENSG00000143126	ENST00000271332	T	0.52295	0.67	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64538	0.2607	M	0.74389	2.26	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.66316	-0.5954	9	0.54805	T	0.06	.	18.4313	0.90627	0.0:1.0:0.0:0.0	.	687	Q9HCU4	CELR2_HUMAN	V	687	ENSP00000271332:A687V	ENSP00000271332:A687V	A	+	2	0	CELSR2	109596284	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	7.278000	0.78587	2.600000	0.87896	0.650000	0.86243	GCC		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109794761	C	T	109794761	3	4	312	1	0	0	0	0	1	0	0	0	3222	739	26	2	2062	2	CELSR2	1	109794761	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	32174474	109794761	139455860	3	16710											
OR2G6	391211	broad.mit.edu	37	1	248685715	248685715	+	Silent	SNP	A	A	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr1:248685715A>T	ENST00000343414.4	+	1	800	c.768A>T	c.(766-768)atA>atT	p.I256I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I256I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGACCATCATATTCATGTACC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	1											118	119	119					1																	248685715		2203	4300	6503	246752338	SO:0001819	synonymous_variant	391211				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.768A>T	1.37:g.248685715A>T			246752338	B2RP33	Silent	SNP	ENST00000343414.4	37	CCDS31119.1																																																																																				0.443	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		T	248685715	A	T	248685715	2	4	312	1	0	0	0	0	0	0	0	1	11000	439	16	5		5	OR2G6	1	248685715	Silent	SNP	A	TCGA-25-2393-01A-01W-0799-08	138890954	248685715	564906	4	16711											
CCNT2	905	broad.mit.edu	37	2	135711833	135711833	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr2:135711833T>G	ENST00000264157.5	+	9	1838	c.1808T>G	c.(1807-1809)gTt>gGt	p.V603G	CCNT2_ENST00000295238.6_Missense_Mutation_p.V603G|CCNT2_ENST00000537343.1_Missense_Mutation_p.V428G	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	603					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V603G(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGGAGTCCTGTTGGCCTGAGC	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											127	117	120					2																	135711833		2203	4300	6503	135428303	SO:0001583	missense	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1808T>G	2.37:g.135711833T>G	ENSP00000264157:p.Val603Gly		135428303	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	T	8.917	0.960094	0.18507	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.23147	1.92;1.92	5.58	4.43	0.53597	.	0.378279	0.29972	N	0.010735	T	0.19846	0.0477	L	0.44542	1.39	0.52099	D	0.999945	B;B;B	0.31548	0.161;0.22;0.328	B;B;B	0.31101	0.079;0.054;0.124	T	0.03684	-1.1013	10	0.15499	T	0.54	.	10.9291	0.47207	0.0:0.0728:0.0:0.9272	.	428;603;603	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	G	428;603;603	ENSP00000295238:V603G;ENSP00000264157:V603G	ENSP00000264157:V603G	V	+	2	0	CCNT2	135428303	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.587000	0.53957	2.131000	0.65755	0.533000	0.62120	GTT		0.532	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		G	135711833	T	G	135711833	3	3	312	1	0	0	0	0	1	0	0	0	2935	1725	60	5	1842	5	CCNT2	2	135711833	Missense_Mutation	SNP	T	TCGA-25-2393-01A-01W-0799-08		135711833	107487540	5	16712											
SCN2A	6326	broad.mit.edu	37	2	166172150	166172150	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr2:166172150A>G	ENST00000375437.2	+	11	1843	c.1553A>G	c.(1552-1554)gAg>gGg	p.E518G	SCN2A_ENST00000283256.6_Missense_Mutation_p.E518G|SCN2A_ENST00000357398.3_Missense_Mutation_p.E518G|SCN2A_ENST00000375427.2_Missense_Mutation_p.E518G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	518					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E518G(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ggagaagaagagaaaaATGAC	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											50	52	52					2																	166172150		2203	4300	6503	165880396	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1553A>G	2.37:g.166172150A>G	ENSP00000364586:p.Glu518Gly		165880396	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.101054	0.37048	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.9	5.9	0.94986	Domain of unknown function DUF3451 (1);	0.903868	0.09580	N	0.782983	D	0.95733	0.8612	M	0.85373	2.75	0.44946	D	0.997961	B;B	0.22211	0.0;0.066	B;B	0.32928	0.002;0.155	D	0.90640	0.4574	9	.	.	.	.	16.0056	0.80359	1.0:0.0:0.0:0.0	.	518;518	Q99250-2;Q99250	.;SCN2A_HUMAN	G	518	ENSP00000364586:E518G;ENSP00000349973:E518G;ENSP00000283256:E518G;ENSP00000364576:E518G	.	E	+	2	0	SCN2A	165880396	0.979000	0.34478	1.000000	0.80357	0.855000	0.48748	2.335000	0.43929	2.251000	0.74343	0.528000	0.53228	GAG		0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		G	166172150	A	G	166172150	3	3	312	1	0	0	0	0	1	0	0	0	13919	304	11	4	1687	4	SCN2A	2	166172150	Missense_Mutation	SNP	A	TCGA-25-2393-01A-01W-0799-08	30460317	166172150	77027223	6	16713											
SMARCAL1	50485	broad.mit.edu	37	2	217332751	217332751	+	Silent	SNP	G	G	A	rs2271335	byFrequency	TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr2:217332751G>A	ENST00000357276.4	+	14	2556	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	SMARCAL1_ENST00000358207.5_Silent_p.T742T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	742	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		T -> M (in dbSNP:rs2271336).		cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.T742T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ACGCAATTACGCAAGAGCTTG	0.438									Schimke Immuno-Osseous Dysplasia				G|||	7	0.00139776	0	0	5008	,	,		19641	0.001		0	False		,,,				2504	0.0061															1	Substitution - coding silent(1)	ovary(1)	2											135	128	131					2																	217332751		2203	4300	6503	217040996	SO:0001819	synonymous_variant	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2226G>A	2.37:g.217332751G>A			217040996	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	CCDS2403.1																																																																																				0.438	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			A	217332751	G	A	217332751	2	1	312	1	0	0	0	0	0	0	0	1	14776	1074	38	1		1	SMARCAL1	2	217332751	Silent	SNP	G	TCGA-25-2393-01A-01W-0799-08	51160601	217332751	25866622	7	16714											
SLC11A1	6556	broad.mit.edu	37	2	219257824	219257824	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr2:219257824G>A	ENST00000233202.6	+	12	1625	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	SLC11A1_ENST00000539932.1_Missense_Mutation_p.D311N	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	429					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.D429N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCCTCAATGATCTGCTCAA	0.657																																																1	Substitution - Missense(1)	ovary(1)	2											87	65	73					2																	219257824		2203	4300	6503	218966068	SO:0001583	missense	6556			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1285G>A	2.37:g.219257824G>A	ENSP00000233202:p.Asp429Asn		218966068	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047902	0.75846	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.69561	-0.41;-0.41	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000002	T	0.75752	0.3892	L	0.45698	1.435	0.80722	D	1	D;P	0.64830	0.994;0.93	D;P	0.63381	0.914;0.861	T	0.78537	-0.2166	10	0.66056	D	0.02	-29.8657	17.6413	0.88137	0.0:0.0:1.0:0.0	.	311;429	C0H5Y3;P49279	.;NRAM1_HUMAN	N	429;311	ENSP00000233202:D429N;ENSP00000443435:D311N	ENSP00000233202:D429N	D	+	1	0	SLC11A1	218966068	1.000000	0.71417	0.988000	0.46212	0.007000	0.05969	9.193000	0.94954	2.396000	0.81511	0.563000	0.77884	GAT		0.657	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		A	219257824	G	A	219257824	3	1	312	1	0	0	0	0	1	0	0	0	14383	1290	45	2	1331	2	SLC11A1	2	219257824	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	1925073	219257824	23941549	8	16715											
COL4A4	1286	broad.mit.edu	37	2	227898182	227898182	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr2:227898182G>A	ENST00000396625.3	-	38	3728	c.3521C>T	c.(3520-3522)cCt>cTt	p.P1174L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1174L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1174	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P1174L(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTTCAGGCCAGGTGATCCGGA	0.532											OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											53	55	54					2																	227898182		1948	4158	6106	227606426	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3521C>T	2.37:g.227898182G>A	ENSP00000379866:p.Pro1174Leu	2323	227606426	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627365	0.46944	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96685	-4.09;-4.09	5.36	5.36	0.76844	.	.	.	.	.	D	0.98009	0.9344	M	0.82323	2.585	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.98450	1.0591	9	0.62326	D	0.03	.	14.5865	0.68328	0.0:0.0:1.0:0.0	.	1174	P53420	CO4A4_HUMAN	L	1174	ENSP00000379866:P1174L;ENSP00000328553:P1174L	ENSP00000328553:P1174L	P	-	2	0	COL4A4	227606426	0.998000	0.40836	0.175000	0.22980	0.008000	0.06430	5.281000	0.65609	2.521000	0.84997	0.650000	0.86243	CCT		0.532	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		A	227898182	G	A	227898182	3	1	312	1	0	0	0	0	1	0	0	0	3693	1000	35	2	1595	2	COL4A4	2	227898182	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	8640358	227898182	15301191	9	16716											
SLC19A3	80704	broad.mit.edu	37	2	228564085	228564085	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr2:228564085C>A	ENST00000258403.3	-	3	417	c.346G>T	c.(346-348)Gtc>Ttc	p.V116F	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.V112F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	116					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.V116F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCGGCGGTGACCATCCCATAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											98	97	97					2																	228564085		2203	4300	6503	228272329	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.346G>T	2.37:g.228564085C>A	ENSP00000258403:p.Val116Phe		228272329		Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686225	0.47991	.	.	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	T;T;T	0.80033	-1.33;-1.33;0.38	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.173169	0.49916	D	0.000121	T	0.74581	0.3735	L	0.38649	1.16	0.80722	D	1	B;B	0.33044	0.092;0.395	B;B	0.40009	0.077;0.316	T	0.68232	-0.5463	10	0.08837	T	0.75	-29.8901	14.8391	0.70209	0.1438:0.8562:0.0:0.0	.	112;116	F5H2M8;Q9BZV2	.;S19A3_HUMAN	F	116;112;116	ENSP00000258403:V116F;ENSP00000445519:V112F;ENSP00000399001:V116F	ENSP00000258403:V116F	V	-	1	0	SLC19A3	228272329	0.987000	0.35691	0.143000	0.22291	0.362000	0.29581	3.138000	0.50570	2.749000	0.94314	0.655000	0.94253	GTC		0.552	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			A	228564085	C	A	228564085	3	1	312	1	0	0	0	0	1	0	0	0	14433	507	18	3	1160	3	SLC19A3	2	228564085	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	665903	228564085	14635288	10	16717											
SP140	11262	broad.mit.edu	37	2	231110601	231110601	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr2:231110601A>G	ENST00000392045.3	+	7	802	c.688A>G	c.(688-690)Ata>Gta	p.I230V	SP140_ENST00000350136.5_Missense_Mutation_p.I210V|SP140_ENST00000420434.3_Missense_Mutation_p.I230V|SP140_ENST00000486687.2_Intron|SP140_ENST00000343805.6_Intron|SP140_ENST00000417495.3_Missense_Mutation_p.I227V	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	230					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I230V(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGCTATACAAATAGATGAAGG	0.383																																																1	Substitution - Missense(1)	ovary(1)	2											126	112	116					2																	231110601		1902	4124	6026	230818845	SO:0001583	missense	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.688A>G	2.37:g.231110601A>G	ENSP00000375899:p.Ile230Val		230818845	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.371503	0.01225	.	.	ENSG00000079263	ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000420434	T;T;T	0.50813	0.92;0.74;0.73	2.79	-4.69	0.03299	.	.	.	.	.	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.29579	-1.0007	9	0.06494	T	0.89	.	5.264	0.15589	0.3687:0.1773:0.454:0.0	.	230;227;230;230	E7EUR5;E7ESH9;Q13342;E7EX75	.;.;LY10_HUMAN;.	V	230;210;230;227;230	ENSP00000345846:I210V;ENSP00000375899:I230V;ENSP00000398210:I230V	ENSP00000345846:I210V	I	+	1	0	SP140	230818845	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.363000	0.07593	-1.127000	0.02925	-0.400000	0.06385	ATA		0.383	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		G	231110601	A	G	231110601	3	3	312	1	0	0	0	0	1	0	0	0	14965	101	4	4	831	4	SP140	2	231110601	Missense_Mutation	SNP	A	TCGA-25-2393-01A-01W-0799-08	2546516	231110601	12088772	11	16718											
ARL6IP5	10550	broad.mit.edu	37	3	69153673	69153673	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr3:69153673A>C	ENST00000273258.3	+	3	557	c.453A>C	c.(451-453)aaA>aaC	p.K151N	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	151	Targeting to endoplasmic reticulum membrane. {ECO:0000250}.				intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K151N(1)		biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		TGGAGAATAAAATGGAAGGAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											104	96	99					3																	69153673		2203	4300	6503	69236363	SO:0001583	missense	10550			AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"PRA1 domain family 3"	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.453A>C	3.37:g.69153673A>C	ENSP00000273258:p.Lys151Asn		69236363	B2R6V5|Q53ES3|Q5KU08	Missense_Mutation	SNP	ENST00000273258.3	37	CCDS2912.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128211	0.56721	.	.	ENSG00000144746	ENST00000273258	T	0.45276	0.9	5.93	0.919	0.19392	.	0.041720	0.85682	D	0.000000	T	0.34571	0.0902	M	0.69463	2.115	0.80722	D	1	P	0.35923	0.528	B	0.35550	0.205	T	0.05053	-1.0909	10	0.33940	T	0.23	-16.7759	5.8647	0.18768	0.4795:0.1401:0.3804:0.0	.	151	O75915	PRAF3_HUMAN	N	151	ENSP00000273258:K151N	ENSP00000273258:K151N	K	+	3	2	ARL6IP5	69236363	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.192000	0.32150	0.140000	0.18849	0.533000	0.62120	AAA		0.453	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352132.1	NM_006407		C	69153673	A	C	69153673	3	2	312	1	0	0	0	0	1	0	0	0	944	11	1	5	463	5	ARL6IP5	3	69153673	Missense_Mutation	SNP	A	TCGA-25-2393-01A-01W-0799-08		69153673	128868757	12	16719											
FILIP1L	11259	broad.mit.edu	37	3	99568055	99568055	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr3:99568055A>G	ENST00000354552.3	-	5	2935	c.2465T>C	c.(2464-2466)gTc>gCc	p.V822A	FILIP1L_ENST00000331335.5_Missense_Mutation_p.V822A|FILIP1L_ENST00000471562.1_Missense_Mutation_p.V582A|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.V398A|FILIP1L_ENST00000383694.2_Missense_Mutation_p.V582A|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	822						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V822A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ACCATTGATGACTGCACGTTC	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											214	198	203					3																	99568055		1977	4155	6132	101050745	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2465T>C	3.37:g.99568055A>G	ENSP00000346560:p.Val822Ala		101050745	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	A	1.741	-0.491793	0.04322	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.26373	2.06;1.77;1.75;2.07;1.75;1.74	5.87	5.87	0.94306	.	0.000000	0.47093	D	0.000247	T	0.16128	0.0388	N	0.08118	0	0.35768	D	0.82066	B;B	0.27625	0.183;0.115	B;B	0.26416	0.069;0.031	T	0.18053	-1.0349	10	0.41790	T	0.15	-10.8786	16.2813	0.82687	1.0:0.0:0.0:0.0	.	822;822	Q4L180-2;Q4L180	.;FIL1L_HUMAN	A	822;398;582;822;582;568;582	ENSP00000346560:V822A;ENSP00000417774:V398A;ENSP00000419642:V582A;ENSP00000327880:V822A;ENSP00000373192:V582A;ENSP00000419874:V582A	ENSP00000327880:V822A	V	-	2	0	FILIP1L	101050745	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	5.287000	0.65645	2.244000	0.73946	0.533000	0.62120	GTC		0.438	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		G	99568055	A	G	99568055	3	3	312	1	0	0	0	0	1	0	0	0	5895	275	10	4	971	4	FILIP1L	3	99568055	Missense_Mutation	SNP	A	TCGA-25-2393-01A-01W-0799-08	30414382	99568055	98454375	13	16720											
TF	7018	broad.mit.edu	37	3	133478059	133478059	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr3:133478059G>T	ENST00000402696.3	+	9	1574	c.1089G>T	c.(1087-1089)tgG>tgT	p.W363C	TF_ENST00000264998.3_Missense_Mutation_p.W236C	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	363	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.W363C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CTGTGAAGTGGTGTGCGCTGA	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											170	167	168					3																	133478059		2203	4300	6503	134960749	SO:0001583	missense	7018				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1089G>T	3.37:g.133478059G>T	ENSP00000385834:p.Trp363Cys		134960749	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668124	0.67814	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.57595	0.39;0.39	4.53	4.53	0.55603	.	0.109197	0.64402	D	0.000002	D	0.82692	0.5092	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89466	0.3740	10	0.87932	D	0	-25.4603	16.5466	0.84448	0.0:0.0:1.0:0.0	.	363	P02787	TRFE_HUMAN	C	363;236	ENSP00000385834:W363C;ENSP00000264998:W236C	ENSP00000264998:W236C	W	+	3	0	TF	134960749	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	6.926000	0.75835	2.495000	0.84180	0.462000	0.41574	TGG		0.502	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		T	133478059	G	T	133478059	3	4	312	1	0	0	0	0	1	0	0	0	15785	1270	44	3	1123	3	TF	3	133478059	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	33910004	133478059	64544371	14	16721											
CSN3	1448	broad.mit.edu	37	4	71114781	71114781	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr4:71114781C>G	ENST00000304954.3	+	4	240	c.154C>G	c.(154-156)Cca>Gca	p.P52A		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	187					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.P52A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GTATTATGTGCCAAATAGCTA	0.343																																																1	Substitution - Missense(1)	ovary(1)	4											116	115	116					4																	71114781		2203	4300	6503	71149370	SO:0001583	missense	1448			U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"casein, kappa"	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.154C>G	4.37:g.71114781C>G	ENSP00000304822:p.Pro52Ala		71149370	B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535973	0.45176	.	.	ENSG00000171209	ENST00000304954	T	0.20881	2.04	4.38	-0.487	0.12060	.	1.189540	0.06263	N	0.694347	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B	0.27286	0.174	B	0.24006	0.05	T	0.34153	-0.9840	10	0.72032	D	0.01	-19.1112	3.4424	0.07468	0.1926:0.4077:0.0:0.3997	.	52	P07498	CASK_HUMAN	A	52	ENSP00000304822:P52A	ENSP00000304822:P52A	P	+	1	0	CSN3	71149370	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.195000	0.09546	-0.133000	0.11537	0.557000	0.71058	CCA		0.343	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		G	71114781	C	G	71114781	3	3	312	1	0	0	0	0	1	0	0	0	3949	739	26	3	164	3	CSN3	4	71114781	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08		71114781	120039495	15	16722											
HSPA4L	22824	broad.mit.edu	37	4	128751886	128751886	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr4:128751886G>T	ENST00000296464.4	+	18	2671	c.2260G>T	c.(2260-2262)Gca>Tca	p.A754S	HSPA4L_ENST00000508776.1_Missense_Mutation_p.A754S|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A728S|HSPA4L_ENST00000439123.2_Missense_Mutation_p.A785S	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	754					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.A754S(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAAGATGAATGCACAGAACAA	0.343																																																1	Substitution - Missense(1)	ovary(1)	4											95	95	95					4																	128751886		2203	4299	6502	128971336	SO:0001583	missense	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2260G>T	4.37:g.128751886G>T	ENSP00000296464:p.Ala754Ser		128971336	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793459	0.50102	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.01464	5.0;5.0;5.0;4.86	5.31	5.31	0.75309	.	0.054782	0.64402	D	0.000001	T	0.04998	0.0134	L	0.60957	1.885	0.43334	D	0.995374	B;D	0.63046	0.01;0.992	B;P	0.53006	0.056;0.715	T	0.52411	-0.8579	10	0.30854	T	0.27	.	14.0595	0.64790	0.0:0.0:0.8494:0.1506	.	728;754	E9PDE8;O95757	.;HS74L_HUMAN	S	754;785;754;728	ENSP00000422482:A754S;ENSP00000393926:A785S;ENSP00000296464:A754S;ENSP00000425645:A728S	ENSP00000296464:A754S	A	+	1	0	HSPA4L	128971336	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	3.992000	0.56980	2.763000	0.94921	0.563000	0.77884	GCA		0.343	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		T	128751886	G	T	128751886	3	4	312	1	0	0	0	0	1	0	0	0	7413	1319	46	3	2330	3	HSPA4L	4	128751886	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	57637105	128751886	62402390	16	16723											
DDO	8528	broad.mit.edu	37	6	110714313	110714313	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr6:110714313C>T	ENST00000368924.3	-	5	790	c.775G>A	c.(775-777)Gta>Ata	p.V259I	DDO_ENST00000368923.3_Missense_Mutation_p.V200I	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	231					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.V259I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CCTAGGGTTACATGGGATGTA	0.522																																																1	Substitution - Missense(1)	ovary(1)	6											125	136	132					6																	110714313		2203	4300	6503	110821006	SO:0001583	missense	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.775G>A	6.37:g.110714313C>T	ENSP00000357920:p.Val259Ile		110821006	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716727	0.68844	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.82526	-1.62;-1.62;-1.62	5.84	5.84	0.93424	.	0.197986	0.43919	D	0.000504	D	0.86644	0.5982	M	0.64997	1.995	0.58432	D	0.999991	D;D	0.76494	0.999;0.996	D;D	0.69142	0.962;0.922	D	0.86563	0.1842	10	0.51188	T	0.08	-21.8661	13.3587	0.60644	0.0:0.9281:0.0:0.0719	.	200;259	Q99489-4;Q99489-3	.;.	I	259;200;231	ENSP00000357920:V259I;ENSP00000357919:V200I;ENSP00000357921:V231I	ENSP00000357919:V200I	V	-	1	0	DDO	110821006	0.988000	0.35896	0.704000	0.30370	0.463000	0.32649	2.835000	0.48175	2.769000	0.95229	0.563000	0.77884	GTA		0.522	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			T	110714313	C	T	110714313	3	4	312	1	0	0	0	0	1	0	0	0	4334	478	17	2	338	2	DDO	6	110714313	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08		110714313	60400754	17	16724											
SLC2A12	154091	broad.mit.edu	37	6	134349982	134349982	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr6:134349982C>G	ENST00000275230.5	-	2	1136	c.981G>C	c.(979-981)aaG>aaC	p.K327N		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	327					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.K327N(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGCTAATGACCTTGACGACTC	0.488																																					Melanoma(122;1663 1672 14489 35294 41228)											1	Substitution - Missense(1)	ovary(1)	6											81	68	73					6																	134349982		2203	4300	6503	134391675	SO:0001583	missense	154091			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.981G>C	6.37:g.134349982C>G	ENSP00000275230:p.Lys327Asn		134391675	B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	9.986	1.229537	0.22542	.	.	ENSG00000146411	ENST00000275230	T	0.67698	-0.28	5.16	1.92	0.25849	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	N	0.19112	0.55	0.58432	D	0.999993	B	0.27997	0.197	B	0.36464	0.225	T	0.05869	-1.0859	10	0.14252	T	0.57	-20.5346	8.7687	0.34719	0.0:0.6017:0.0:0.3983	.	327	Q8TD20	GTR12_HUMAN	N	327	ENSP00000275230:K327N	ENSP00000275230:K327N	K	-	3	2	SLC2A12	134391675	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	1.624000	0.37018	0.218000	0.20820	-1.595000	0.00837	AAG		0.488	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			G	134349982	C	G	134349982	3	3	312	1	0	0	0	0	1	0	0	0	14544	680	24	3	888	3	SLC2A12	6	134349982	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	23635669	134349982	36765085	18	16725											
NXPH1	30010	broad.mit.edu	37	7	8790932	8790932	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr7:8790932A>G	ENST00000405863.1	+	3	1260	c.349A>G	c.(349-351)Aaa>Gaa	p.K117E	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	117	III.					extracellular region (GO:0005576)		p.K117E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAAGTTTAAGAAAATGTTTGG	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											81	78	79					7																	8790932		1838	4079	5917	8757457	SO:0001583	missense	30010			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.349A>G	7.37:g.8790932A>G	ENSP00000384551:p.Lys117Glu		8757457	Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811723	0.70797	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.83953	2.67	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.83736	0.0201	9	0.87932	D	0	-15.6341	16.6406	0.85098	1.0:0.0:0.0:0.0	.	117	P58417	NXPH1_HUMAN	E	117	.	ENSP00000384551:K117E	K	+	1	0	NXPH1	8757457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.307000	0.96226	2.326000	0.78906	0.533000	0.62120	AAA		0.468	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		G	8790932	A	G	8790932	3	3	312	1	0	0	0	0	1	0	0	0	10790	247	9	4	355	4	NXPH1	7	8790932	Missense_Mutation	SNP	A	TCGA-25-2393-01A-01W-0799-08		8790932	150347731	19	16726											
MCM4	4173	broad.mit.edu	37	8	48883167	48883167	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr8:48883167G>A	ENST00000262105.2	+	11	1740	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.D511N	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	511	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.D511N(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GCTGTGTGGCGACCCTGGTAC	0.552																																																1	Substitution - Missense(1)	ovary(1)	8											112	98	102					8																	48883167		2203	4300	6503	49045720	SO:0001583	missense	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1531G>A	8.37:g.48883167G>A	ENSP00000262105:p.Asp511Asn		49045720	Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416122	0.96092	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.15139	2.45;2.45;2.45	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.082144	0.85682	D	0.000000	T	0.67230	0.2871	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82037	-0.0656	10	0.87932	D	0	-39.4048	20.8794	0.99867	0.0:0.0:1.0:0.0	.	511;511	B3KMX0;P33991	.;MCM4_HUMAN	N	511;511;498;471;229	ENSP00000430194:D511N;ENSP00000262105:D511N;ENSP00000427875:D229N	ENSP00000262105:D511N	D	+	1	0	MCM4	49045720	1.000000	0.71417	0.995000	0.50966	0.708000	0.40852	9.790000	0.99075	2.941000	0.99782	0.655000	0.94253	GAC		0.552	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		A	48883167	G	A	48883167	3	1	312	1	0	0	0	0	1	0	0	0	9389	1058	37	1	1573	1	MCM4	8	48883167	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08		48883167	97480855	20	16727											
RB1CC1	9821	broad.mit.edu	37	8	53555086	53555086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr8:53555086C>A	ENST00000025008.5	-	18	4685	c.4162G>T	c.(4162-4164)Gaa>Taa	p.E1388*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.E1388*|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.E1388*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1388					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.E1388*(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTACTGACTTCTTCTTCAAGC	0.408																																					GBM(180;1701 2102 13475 42023 52570)											1	Substitution - Nonsense(1)	ovary(1)	8											109	102	104					8																	53555086		2203	4300	6503	53717639	SO:0001587	stop_gained	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4162G>T	8.37:g.53555086C>A	ENSP00000025008:p.Glu1388*		53717639	Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	48	14.656720	0.99805	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.61	4.72	0.59763	.	0.054132	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-10.4334	15.3987	0.74818	0.0:0.8603:0.1397:0.0	.	.	.	.	X	1388	.	ENSP00000025008:E1388X	E	-	1	0	RB1CC1	53717639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.955000	0.63638	1.321000	0.45227	0.655000	0.94253	GAA		0.408	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53555086	C	A	53555086	4	1	312	1	0	0	0	0	0	1	0	0	13102	922	32	3	650	3	RB1CC1	8	53555086	Nonsense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	4671919	53555086	92808936	21	16728											
TRPA1	8989	broad.mit.edu	37	8	72973971	72973971	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr8:72973971A>G	ENST00000262209.4	-	7	1040	c.833T>C	c.(832-834)tTt>tCt	p.F278S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	278					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.F278S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGTGGCAGCAAAATGAATGGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	8											152	124	134					8																	72973971		2203	4300	6503	73136525	SO:0001583	missense	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.833T>C	8.37:g.72973971A>G	ENSP00000262209:p.Phe278Ser		73136525	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619400	0.87460	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64085	-0.08;-0.08	4.94	4.94	0.65067	Ankyrin repeat-containing domain (4);	0.171885	0.53938	D	0.000057	T	0.78457	0.4286	M	0.84511	2.7	0.80722	D	1	D	0.65815	0.995	D	0.63877	0.919	T	0.78735	-0.2088	10	0.30078	T	0.28	-20.6897	14.7654	0.69634	1.0:0.0:0.0:0.0	.	278	O75762	TRPA1_HUMAN	S	130;278	ENSP00000428151:F130S;ENSP00000262209:F278S	ENSP00000262209:F278S	F	-	2	0	TRPA1	73136525	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.197000	0.89727	2.080000	0.62538	0.533000	0.62120	TTT		0.403	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		G	72973971	A	G	72973971	3	3	312	1	0	0	0	0	1	0	0	0	16577	14	1	4	2610	4	TRPA1	8	72973971	Missense_Mutation	SNP	A	TCGA-25-2393-01A-01W-0799-08	19418885	72973971	73390051	22	16729											
TGFBR1	7046	broad.mit.edu	37	9	101900289	101900289	+	Silent	SNP	G	G	T	rs201112150		TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr9:101900289G>T	ENST00000374994.4	+	4	840	c.723G>T	c.(721-723)tcG>tcT	p.S241S	TGFBR1_ENST00000552516.1_Silent_p.S245S|TGFBR1_ENST00000550253.1_Silent_p.S172S|TGFBR1_ENST00000374990.2_Silent_p.S164S	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> L (in LDS1). {ECO:0000269|PubMed:16596670, ECO:0000269|PubMed:16791849}.		activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.S241S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AAGAACGTTCGTGGTTCCGTG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	9											173	168	169					9																	101900289		2203	4300	6503	100940110	SO:0001819	synonymous_variant	7046				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.723G>T	9.37:g.101900289G>T			100940110	Q6IR47|Q706C0|Q706C1	Silent	SNP	ENST00000374994.4	37	CCDS6738.1																																																																																				0.413	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			T	101900289	G	T	101900289	2	4	312	1	0	0	0	0	0	0	0	1	15821	1132	40	3		3	TGFBR1	9	101900289	Silent	SNP	G	TCGA-25-2393-01A-01W-0799-08		101900289	39313142	23	16730											
PRKCQ	5588	broad.mit.edu	37	10	6504278	6504278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr10:6504278C>A	ENST00000263125.5	-	14	1594	c.1495G>T	c.(1495-1497)Gga>Tga	p.G499*	PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.G499*|PRKCQ_ENST00000539722.1_Nonsense_Mutation_p.G374*	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	499	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.G499*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TAGACTATTCCTTTGGAATGA	0.408																																					Ovarian(50;572 1126 10530 25349 30594)											1	Substitution - Nonsense(1)	ovary(1)	10											115	117	116					10																	6504278		2203	4300	6503	6544284	SO:0001587	stop_gained	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1495G>T	10.37:g.6504278C>A	ENSP00000263125:p.Gly499*		6544284	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Nonsense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.805110|5.805110	0.96967|0.96967	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70465	.|0.3227	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64453	.|-0.6404	.|4	0.87932|0.23891	D|T	0|0.37	.|.	19.2789|19.2789	0.94044|0.94044	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	499;499;374|271	.|.	ENSP00000263125:G499X|ENSP00000380363:K271N	G|K	-|-	1|3	0|2	PRKCQ|PRKCQ	6544284|6544284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.215000|0.215000	0.24574|0.24574	7.513000|7.513000	0.81739|0.81739	2.542000|2.542000	0.85734|0.85734	0.563000|0.563000	0.77884|0.77884	GGA|AAG		0.408	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		A	6504278	C	A	6504278	4	1	312	1	0	0	0	0	0	1	0	0	12518	690	24	3	645	3	PRKCQ	10	6504278	Nonsense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08		6504278	129030469	24	16731											
DCLRE1C	64421	broad.mit.edu	37	10	14981854	14981854	+	Silent	SNP	G	G	T	rs191086777		TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr10:14981854G>T	ENST00000378278.2	-	4	298	c.261C>A	c.(259-261)atC>atA	p.I87I	DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378289.4_Silent_p.I87I|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	87					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.I87I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TAGGAGTCTCGATTTCAATAG	0.313								Non-homologous end-joining																																								1	Substitution - coding silent(1)	ovary(1)	10											38	41	40					10																	14981854		2192	4292	6484	15021860	SO:0001819	synonymous_variant	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.261C>A	10.37:g.14981854G>T			15021860	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	ENST00000378278.2	37	CCDS31149.1																																																																																				0.313	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		T	14981854	G	T	14981854	2	4	312	1	0	0	0	0	0	0	0	1	4296	1048	37	3		3	DCLRE1C	10	14981854	Silent	SNP	G	TCGA-25-2393-01A-01W-0799-08	8477576	14981854	120552893	25	16732											
JMJD1C	221037	broad.mit.edu	37	10	64950671	64950671	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr10:64950671A>G	ENST00000399262.2	-	17	6492	c.6274T>C	c.(6274-6276)Tat>Cat	p.Y2092H	JMJD1C_ENST00000402544.1_Missense_Mutation_p.Y1855H|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Y1910H|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2092					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.Y1855H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCCATTGAATATACTGGGGCA	0.453																																																1	Substitution - Missense(1)	ovary(1)	10											104	98	100					10																	64950671		1880	4120	6000	64620677	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6274T>C	10.37:g.64950671A>G	ENSP00000382204:p.Tyr2092His		64620677	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555162	0.86231	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.56776	0.78;0.44;0.78	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	T	0.74990	-0.3475	10	0.56958	D	0.05	-16.4664	15.5839	0.76468	1.0:0.0:0.0:0.0	.	2092;1910	Q15652;A0T124	JHD2C_HUMAN;.	H	2092;1855;1910	ENSP00000382204:Y2092H;ENSP00000384990:Y1855H;ENSP00000444682:Y1910H	ENSP00000382204:Y2092H	Y	-	1	0	JMJD1C	64620677	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	8.454000	0.90352	2.225000	0.72522	0.528000	0.53228	TAT		0.453	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		G	64950671	A	G	64950671	3	3	312	1	0	0	0	0	1	0	0	0	7950	449	16	4	1388	4	JMJD1C	10	64950671	Missense_Mutation	SNP	A	TCGA-25-2393-01A-01W-0799-08	49968817	64950671	70584076	26	16733											
C10orf79	80217	broad.mit.edu	37	10	105990459	105990459	+	Missense_Mutation	SNP	C	C	T	rs551332560		TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr10:105990459C>T	ENST00000357060.3	-	2	323	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	WDR96_ENST00000428666.1_Missense_Mutation_p.V70I|WDR96_ENST00000369719.1_5'UTR|WDR96_ENST00000278064.2_5'UTR|WDR96_ENST00000369720.1_5'UTR	NM_025145.5	NP_079421.5												p.V70I(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGCCATGACGCCCACAATT	0.413													C|||	1	0.000199681	0	0	5008	,	,		15274	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	10											144	132	136					10																	105990459		2203	4300	6503	105980449	SO:0001583	missense	80217																														ENST00000357060.3:c.208G>A	10.37:g.105990459C>T	ENSP00000349568:p.Val70Ile		105980449		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196404	0.38806	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.19105	2.17;2.17	4.83	3.92	0.45320	.	0.291378	0.18676	N	0.134302	T	0.17152	0.0412	L	0.40543	1.245	0.31000	N	0.720398	B;B;B	0.28760	0.221;0.098;0.066	B;B;B	0.17098	0.017;0.011;0.009	T	0.06320	-1.0833	10	0.31617	T	0.26	.	13.2535	0.60066	0.0:0.922:0.0:0.078	.	70;70;70	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	I	70	ENSP00000349568:V70I;ENSP00000400289:V70I	ENSP00000349568:V70I	V	-	1	0	WDR96	105980449	0.988000	0.35896	1.000000	0.80357	0.935000	0.57460	1.421000	0.34815	1.021000	0.39600	0.491000	0.48974	GTC		0.413	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	105990459	C	T	105990459	3	4	312	1	0	0	0	0	1	0	0	0	1618	536	19	1	4937	1	C10orf79	10	105990459	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	41039788	105990459	29544288	27	16734											
DNHD1	144132	broad.mit.edu	37	11	6592324	6592324	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr11:6592324C>G	ENST00000527990.2	+	40	13582	c.13582C>G	c.(13582-13584)Ctc>Gtc	p.L4528V	DNHD1_ENST00000254579.6_Missense_Mutation_p.L4528V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4528					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.L4528V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCCCACGCTCTCTGGACTGG	0.701																																																1	Substitution - Missense(1)	ovary(1)	11											22	27	25					11																	6592324		2057	4185	6242	6548900	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13582C>G	11.37:g.6592324C>G	ENSP00000436180:p.Leu4528Val		6548900	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330860	0.60853	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.13778	2.56;2.56	4.25	4.25	0.50352	Dynein heavy chain (1);	0.000000	0.51477	D	0.000088	T	0.32436	0.0829	M	0.62723	1.935	0.27249	N	0.958932	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.87578	0.995;0.998;0.995	T	0.02766	-1.1113	10	0.56958	D	0.05	-12.6533	12.327	0.55018	0.0:1.0:0.0:0.0	.	3616;581;4528	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	V	4528;4528;796	ENSP00000254579:L4528V;ENSP00000436180:L4528V	ENSP00000254579:L4528V	L	+	1	0	DNHD1	6548900	1.000000	0.71417	0.963000	0.40424	0.522000	0.34438	3.889000	0.56212	2.353000	0.79882	0.557000	0.71058	CTC		0.701	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		G	6592324	C	G	6592324	3	3	312	1	0	0	0	0	1	0	0	0	4668	913	32	3	13749	3	DNHD1	11	6592324	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08		6592324	128414192	28	16735											
OR5AS1	219447	broad.mit.edu	37	11	55798443	55798443	+	Silent	SNP	T	T	C			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr11:55798443T>C	ENST00000313555.1	+	1	549	c.549T>C	c.(547-549)ccT>ccC	p.P183P		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183P(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATATCCCACCTCTTCTGGCTT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	11											284	281	282					11																	55798443		2201	4296	6497	55555019	SO:0001819	synonymous_variant	219447			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.549T>C	11.37:g.55798443T>C			55555019	Q6IFB8	Silent	SNP	ENST00000313555.1	37	CCDS31516.1																																																																																				0.423	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		C	55798443	T	C	55798443	2	2	312	1	0	0	0	0	0	0	0	1	11146	1538	54	4		4	OR5AS1	11	55798443	Silent	SNP	T	TCGA-25-2393-01A-01W-0799-08	49206119	55798443	79208073	29	16736											
ANO1	55107	broad.mit.edu	37	11	69978061	69978061	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr11:69978061G>A	ENST00000355303.5	+	11	1439	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000538023.1_Missense_Mutation_p.M378I|ANO1_ENST00000530676.1_Missense_Mutation_p.M262I|ANO1_ENST00000398543.2_Missense_Mutation_p.M262I|ANO1_ENST00000316296.5_Missense_Mutation_p.M350I|ANO1_ENST00000531349.1_Missense_Mutation_p.M113I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	378					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.M378I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ATATCACCATGTGCCCGCTTT	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											40	50	47					11																	69978061		2158	4248	6406	69655709	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1134G>A	11.37:g.69978061G>A	ENSP00000347454:p.Met378Ile		69655709	A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.93|19.93	3.918551|3.918551	0.73098|0.73098	.|.	.|.	ENSG00000131620|ENSG00000131620	ENST00000530480|ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	.|T;T;T;T;T;T	.|0.74526	.|-0.42;-0.52;-0.85;-0.2;-0.85;-0.53	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	.|0.100480	.|0.64402	.|D	.|0.000003	D|D	0.87577|0.87577	0.6212|0.6212	M|M	0.91920|0.91920	3.255|3.255	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;D	.|0.54397	.|0.744;0.515;0.966	.|P;B;P	.|0.59643	.|0.582;0.157;0.861	D|D	0.90750|0.90750	0.4656|0.4656	5|9	.|.	.|.	.|.	.|.	17.2887|17.2887	0.87149|0.87149	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|113;350;378	.|E9PNA7;Q5XXA6-3;Q5XXA6	.|.;.;ANO1_HUMAN	Y|I	243|378;378;262;162;350;262;113	.|ENSP00000347454:M378I;ENSP00000444689:M378I;ENSP00000381551:M262I;ENSP00000319477:M350I;ENSP00000435797:M262I;ENSP00000432843:M113I	.|.	C|M	+|+	2|3	0|0	ANO1|ANO1	69655709|69655709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	9.510000|9.510000	0.98004|0.98004	2.067000|2.067000	0.61834|0.61834	0.555000|0.555000	0.69702|0.69702	TGT|ATG		0.612	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		A	69978061	G	A	69978061	3	1	312	1	0	0	0	0	1	0	0	0	695	1377	48	2	1176	2	ANO1	11	69978061	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	14179618	69978061	65028455	30	16737											
CCDC82	79780	broad.mit.edu	37	11	96117863	96117863	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr11:96117863C>T	ENST00000278520.5	-	3	477	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	CCDC82_ENST00000423339.2_Missense_Mutation_p.V17M|CCDC82_ENST00000542662.1_Missense_Mutation_p.V17M|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	17								p.V17M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGCTCAGGCACGTGACTCTTA	0.338																																																1	Substitution - Missense(1)	ovary(1)	11											74	71	72					11																	96117863		2200	4296	6496	95757511	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.49G>A	11.37:g.96117863C>T	ENSP00000278520:p.Val17Met		95757511	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874879	0.33069	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597;ENST00000530203	T;T;T;T	0.32515	1.83;1.83;1.83;1.45	5.77	1.77	0.24775	.	0.983418	0.08295	N	0.967843	T	0.20170	0.0485	L	0.36672	1.1	0.09310	N	0.999995	P;B	0.42757	0.789;0.226	B;B	0.27500	0.08;0.025	T	0.10847	-1.0612	10	0.52906	T	0.07	1.4465	9.947	0.41616	0.0:0.728:0.0:0.272	.	17;17	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	M	17	ENSP00000278520:V17M;ENSP00000444010:V17M;ENSP00000397156:V17M;ENSP00000442723:V17M	ENSP00000278520:V17M	V	-	1	0	CCDC82	95757511	0.000000	0.05858	0.612000	0.29024	0.957000	0.61999	-0.767000	0.04720	0.141000	0.18875	0.655000	0.94253	GTG		0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		T	96117863	C	T	96117863	3	4	312	1	0	0	0	0	1	0	0	0	2856	536	19	1	1613	1	CCDC82	11	96117863	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	26139802	96117863	38888653	31	16738											
FGD4	121512	broad.mit.edu	37	12	32751500	32751500	+	Nonsense_Mutation	SNP	C	C	T	rs118203972		TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr12:32751500C>T	ENST00000427716.2	+	5	1094	c.670C>T	c.(670-672)Cga>Tga	p.R224*	FGD4_ENST00000525053.1_Nonsense_Mutation_p.R336*|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R361*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.R309*|FGD4_ENST00000546442.1_Nonsense_Mutation_p.R131*|FGD4_ENST00000381025.3_5'UTR	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	224	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R224*(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TTATGTCAACCGACTTGACCT	0.299																																																1	Substitution - Nonsense(1)	ovary(1)	12	GRCh37	CM073065	FGD4	M	rs118203972						87	86	86					12																	32751500		2203	4299	6502	32642767	SO:0001587	stop_gained	121512			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.670C>T	12.37:g.32751500C>T	ENSP00000394487:p.Arg224*		32642767	Q6ULS2|Q8TCP6	Nonsense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037646	0.93630	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	.	.	.	4.91	3.95	0.45737	.	0.000000	0.43110	D	0.000613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1136	13.1135	0.59288	0.2701:0.7299:0.0:0.0	.	.	.	.	X	361;309;224;131;336	.	ENSP00000379089:R224X	R	+	1	2	FGD4	32642767	0.997000	0.39634	0.999000	0.59377	0.763000	0.43281	2.023000	0.41040	2.426000	0.82243	0.655000	0.94253	CGA		0.299	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		T	32751500	C	T	32751500	4	4	312	1	0	0	0	0	0	1	0	0	5835	644	23	1	680	1	FGD4	12	32751500	Nonsense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08		32751500	101100395	32	16739											
AACS	65985	broad.mit.edu	37	12	125618566	125618566	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr12:125618566G>T	ENST00000316519.6	+	15	1773	c.1567G>T	c.(1567-1569)Gac>Tac	p.D523Y	AACS_ENST00000543665.1_Silent_p.A22A|AACS_ENST00000316543.10_Missense_Mutation_p.D121Y|AACS_ENST00000545511.1_Silent_p.A102A|AACS_ENST00000261686.6_Missense_Mutation_p.D523Y	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	523					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGCTCATGGCGACTACTGCAG	0.617																																																0			12											87	72	77					12																	125618566		2203	4300	6503	124184519	SO:0001583	missense	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1567G>T	12.37:g.125618566G>T	ENSP00000324842:p.Asp523Tyr		124184519	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.731325|4.731325	0.89390|0.89390	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118|ENST00000535001	D;D;T;D;T|.	0.87729|.	-2.29;-2.29;0.17;-2.29;0.17|.	5.75|5.75	5.75|5.75	0.90469|0.90469	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88518|0.88518	0.6458|0.6458	H|H	0.96398|0.96398	3.815|3.815	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.91473|0.91473	0.5198|0.5198	10|6	0.87932|0.87932	D|D	0|0	.|.	19.9439|19.9439	0.97175|0.97175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	523;523|.	Q86V21-2;Q86V21|.	.;AACS_HUMAN|.	Y|L	523;523;121;188;78|236	ENSP00000324842:D523Y;ENSP00000261686:D523Y;ENSP00000324929:D121Y;ENSP00000441686:D188Y;ENSP00000441331:D78Y|.	ENSP00000261686:D523Y|ENSP00000441909:R236L	D|R	+|+	1|2	0|0	AACS|AACS	124184519|124184519	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.859000|0.859000	0.49053|0.49053	8.963000|8.963000	0.93385|0.93385	2.706000|2.706000	0.92434|0.92434	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.617	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		T	125618566	G	T	125618566	3	4	312	1	0	0	0	0	1	0	0	0	9	1058	37	3	1625	3	AACS	12	125618566	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	92867066	125618566	8233329	33	16740											
PIWIL1	9271	broad.mit.edu	37	12	130847320	130847320	+	Silent	SNP	A	A	C			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr12:130847320A>C	ENST00000245255.3	+	17	2252	c.1980A>C	c.(1978-1980)tcA>tcC	p.S660S		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	660	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.S660S(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCTGGTTCTCACGCTGCATAT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	12											110	105	107					12																	130847320		2203	4300	6503	129413273	SO:0001819	synonymous_variant	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1980A>C	12.37:g.130847320A>C			129413273	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	CCDS9268.1																																																																																				0.398	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			C	130847320	A	C	130847320	2	2	312	1	0	0	0	0	0	0	0	1	11957	146	6	5		5	PIWIL1	12	130847320	Silent	SNP	A	TCGA-25-2393-01A-01W-0799-08	5228754	130847320	3004575	34	16741											
UTP14C	9724	broad.mit.edu	37	13	52604308	52604308	+	Silent	SNP	C	C	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr13:52604308C>T	ENST00000521776.2	+	2	2101	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	456					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.S456S(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGTGCTGTCCGAATTGAGGG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	13											85	89	88					13																	52604308		2203	4300	6503	51502309	SO:0001819	synonymous_variant	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1368C>T	13.37:g.52604308C>T			51502309	Q5FWG3|Q92555	Silent	SNP	ENST00000521776.2	37	CCDS31978.1																																																																																				0.478	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		T	52604308	C	T	52604308	2	4	312	1	0	0	0	0	0	0	0	1	17096	639	23	1		1	UTP14C	13	52604308	Silent	SNP	C	TCGA-25-2393-01A-01W-0799-08		52604308	62565570	35	16742											
ZC3H14	79882	broad.mit.edu	37	14	89034472	89034472	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr14:89034472A>T	ENST00000251038.5	+	3	394	c.169A>T	c.(169-171)Aac>Tac	p.N57Y	ZC3H14_ENST00000393514.5_Missense_Mutation_p.N57Y|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N57Y|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N23Y|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N57Y|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N23Y|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N57Y	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	57						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N57Y(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTTTCTAGGGAACAACACAAT	0.408																																																1	Substitution - Missense(1)	ovary(1)	14											147	115	125					14																	89034472		2203	4300	6503	88104225	SO:0001583	missense	79882			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.169A>T	14.37:g.89034472A>T	ENSP00000251038:p.Asn57Tyr		88104225	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825232	0.71143	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000554602;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000557693;ENST00000555120	T;T;T;T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.62	5.62	0.85841	.	0.096735	0.64402	D	0.000002	T	0.79587	0.4471	L	0.43152	1.355	0.36656	D	0.877662	D;D;D;D	0.76494	0.999;0.998;0.991;0.998	D;D;P;D	0.80764	0.994;0.952;0.718;0.965	D	0.84486	0.0608	10	0.87932	D	0	-13.8914	15.8303	0.78745	1.0:0.0:0.0:0.0	.	57;57;57;57	G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;ZC3HE_HUMAN	Y	57;57;57;23;57;23;57;57;44;23;57;57;23;23;23	ENSP00000251038:N57Y;ENSP00000352250:N23Y;ENSP00000307025:N57Y;ENSP00000451638:N23Y;ENSP00000450474:N57Y;ENSP00000451389:N44Y;ENSP00000451489:N23Y;ENSP00000452475:N57Y;ENSP00000377150:N57Y;ENSP00000338002:N23Y;ENSP00000452210:N23Y;ENSP00000450451:N23Y	ENSP00000251038:N57Y	N	+	1	0	ZC3H14	88104225	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.806000	0.62569	2.133000	0.65898	0.533000	0.62120	AAC		0.408	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		T	89034472	A	T	89034472	3	4	312	1	0	0	0	0	1	0	0	0	17566	246	9	5	179	5	ZC3H14	14	89034472	Missense_Mutation	SNP	A	TCGA-25-2393-01A-01W-0799-08		89034472	18315068	36	16743											
PLCB2	5330	broad.mit.edu	37	15	40590827	40590827	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr15:40590827G>C	ENST00000260402.3	-	10	1182	c.933C>G	c.(931-933)caC>caG	p.H311Q	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.H311Q|PLCB2_ENST00000456256.2_Missense_Mutation_p.H311Q	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	311					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.H311Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCATGTCGTGGTGGAGCAGCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	15											107	112	110					15																	40590827		2164	4252	6416	38378119	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.933C>G	15.37:g.40590827G>C	ENSP00000260402:p.His311Gln		38378119	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203653	0.38905	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.21932	1.99;1.98	4.67	3.73	0.42828	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.451802	0.26086	N	0.026431	T	0.18087	0.0434	N	0.19112	0.55	0.80722	D	1	P;B;B	0.37122	0.583;0.158;0.021	P;B;B	0.45428	0.48;0.058;0.071	T	0.04579	-1.0941	10	0.26408	T	0.33	.	11.7245	0.51702	0.1452:0.0:0.8548:0.0	.	311;311;311	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	Q	311	ENSP00000260402:H311Q;ENSP00000411991:H311Q	ENSP00000260402:H311Q	H	-	3	2	PLCB2	38378119	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	1.588000	0.36633	2.438000	0.82558	0.561000	0.74099	CAC		0.562	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			C	40590827	G	C	40590827	3	2	312	1	0	0	0	0	1	0	0	0	12028	1252	44	3	2716	3	PLCB2	15	40590827	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08		40590827	61940565	37	16744											
SCNN1B	6338	broad.mit.edu	37	16	23390080	23390080	+	Silent	SNP	C	C	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr16:23390080C>A	ENST00000343070.2	+	11	1634	c.1458C>A	c.(1456-1458)acC>acA	p.T486T	SCNN1B_ENST00000568923.1_Silent_p.T459T|SCNN1B_ENST00000307331.5_Silent_p.T531T|SCNN1B_ENST00000568085.1_Silent_p.T450T	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	486					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.T486T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCAATATCACCCTGAGCAGGT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	16											98	79	86					16																	23390080		2197	4300	6497	23297581	SO:0001819	synonymous_variant	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1458C>A	16.37:g.23390080C>A			23297581	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	CCDS10609.1																																																																																				0.582	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			A	23390080	C	A	23390080	2	1	312	1	0	0	0	0	0	0	0	1	13931	610	22	3		3	SCNN1B	16	23390080	Silent	SNP	C	TCGA-25-2393-01A-01W-0799-08		23390080	66964673	38	16745											
NLRC5	84166	broad.mit.edu	37	16	57075470	57075470	+	Missense_Mutation	SNP	G	G	A	rs148873682		TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr16:57075470G>A	ENST00000262510.6	+	18	3238	c.3013G>A	c.(3013-3015)Ggt>Agt	p.G1005S	NLRC5_ENST00000308149.7_Missense_Mutation_p.G1005S|NLRC5_ENST00000539144.1_Missense_Mutation_p.G1005S|NLRC5_ENST00000436936.1_Missense_Mutation_p.G1005S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1005					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.G1005S(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCCACCTCGGTCACCTCCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	16											78	74	75					16																	57075470		2198	4300	6498	55632971	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3013G>A	16.37:g.57075470G>A	ENSP00000262510:p.Gly1005Ser		55632971	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.695|3.695	-0.062640|-0.062640	0.07273|0.07273	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74|.	2.43|2.43	-2.0|-2.0	0.07433|0.07433	.|.	0.899723|.	0.09062|.	N|.	0.854198|.	T|T	0.08133|0.08133	0.0203|0.0203	N|N	0.01267|0.01267	-0.92|-0.92	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.27971|.	0.015;0.086;0.196;0.029|.	B;B;B;B|.	0.17098|.	0.003;0.011;0.017;0.012|.	T|T	0.35773|0.35773	-0.9775|-0.9775	10|5	0.06494|.	T|.	0.89|.	.|.	5.4857|5.4857	0.16749|0.16749	0.1505:0.5427:0.3068:0.0|0.1505:0.5427:0.3068:0.0	.|.	1005;1005;1005;1005|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	S|Q	1005;1005;1005;479;1005;512;304|757	ENSP00000262510:G1005S;ENSP00000308886:G1005S;ENSP00000389739:G1005S;ENSP00000441727:G1005S;ENSP00000441597:G512S;ENSP00000440153:G304S|.	ENSP00000262510:G1005S|.	G|R	+|+	1|2	0|0	NLRC5|NLRC5	55632971|55632971	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.171000|0.171000	0.22731|0.22731	-3.588000|-3.588000	0.00422|0.00422	-0.371000|-0.371000	0.08004|0.08004	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.532	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57075470	G	A	57075470	3	1	312	1	0	0	0	0	1	0	0	0	10470	1116	39	1	3075	1	NLRC5	16	57075470	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	33685390	57075470	33279283	39	16746											
RNF43	54894	broad.mit.edu	37	17	56448295	56448295	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr17:56448295G>T	ENST00000584437.1	-	2	2307	c.352C>A	c.(352-354)Ccc>Acc	p.P118T	RNF43_ENST00000407977.2_Missense_Mutation_p.P118T|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000583753.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.P118T			Q68DV7	RNF43_HUMAN	ring finger protein 43	118					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P118T(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACAGGCAGGGGCGGGGGGCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											54	50	51					17																	56448295		2203	4300	6503	53803294	SO:0001583	missense	54894				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.352C>A	17.37:g.56448295G>T	ENSP00000463069:p.Pro118Thr		53803294	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666789	0.88251	.	.	ENSG00000108375	ENST00000407977	T	0.63096	-0.02	5.45	5.45	0.79879	.	0.089497	0.49305	D	0.000147	T	0.56366	0.1980	L	0.34521	1.04	0.80722	D	1	P	0.47409	0.895	B	0.43508	0.422	T	0.55866	-0.8073	10	0.34782	T	0.22	-4.2268	18.2765	0.90085	0.0:0.0:1.0:0.0	.	118	Q68DV7	RNF43_HUMAN	T	118	ENSP00000385328:P118T	ENSP00000385328:P118T	P	-	1	0	RNF43	53803294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.605000	0.74155	2.555000	0.86185	0.655000	0.94253	CCC		0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		T	56448295	G	T	56448295	3	4	312	1	0	0	0	0	1	0	0	0	13498	1232	43	3	2031	3	RNF43	17	56448295	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08		56448295	24746915	40	16747											
ABCA9	10350	broad.mit.edu	37	17	67047175	67047175	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr17:67047175C>G	ENST00000340001.4	-	2	304	c.93G>C	c.(91-93)ttG>ttC	p.L31F	ABCA9_ENST00000495634.1_Missense_Mutation_p.L31F|ABCA9_ENST00000370732.2_Missense_Mutation_p.L31F|ABCA9_ENST00000453985.2_Missense_Mutation_p.L31F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	31					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L31F(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGCATACCAACAAGGTCTGTC	0.373																																																1	Substitution - Missense(1)	ovary(1)	17											118	107	111					17																	67047175		2203	4300	6503	64558770	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.93G>C	17.37:g.67047175C>G	ENSP00000342216:p.Leu31Phe		64558770	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	3.409	-0.120530	0.06838	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.90676	-2.71;-2.71	4.88	-4.38	0.03622	.	0.830029	0.09461	N	0.799065	D	0.82318	0.5011	L	0.39514	1.22	0.09310	N	1	B;B	0.17667	0.023;0.014	B;B	0.29077	0.05;0.098	T	0.68341	-0.5434	10	0.38643	T	0.18	.	1.2001	0.01883	0.1347:0.2106:0.2815:0.3732	.	31;31	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	F	31;14;31;26	ENSP00000342216:L31F;ENSP00000359767:L31F	ENSP00000342216:L31F	L	-	3	2	ABCA9	64558770	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-3.598000	0.00419	-0.595000	0.05828	-0.140000	0.14226	TTG		0.373	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		G	67047175	C	G	67047175	3	3	312	1	0	0	0	0	1	0	0	0	39	477	17	3	4933	3	ABCA9	17	67047175	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	10598880	67047175	14148035	41	16748											
ABCA6	23460	broad.mit.edu	37	17	67079029	67079029	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr17:67079029G>A	ENST00000284425.2	-	36	4775	c.4601C>T	c.(4600-4602)gCt>gTt	p.A1534V	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1534					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A1534V(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTGCCCTGCAGCCTGTGGGAA	0.433																																																1	Substitution - Missense(1)	ovary(1)	17											202	205	204					17																	67079029		2203	4300	6503	64590624	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4601C>T	17.37:g.67079029G>A	ENSP00000284425:p.Ala1534Val		64590624	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972063	0.74246	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.83419	-1.72	5.03	5.03	0.67393	.	0.000000	0.49305	D	0.000154	D	0.92776	0.7703	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93833	0.7129	10	0.87932	D	0	.	17.8989	0.88897	0.0:0.0:1.0:0.0	.	1534	Q8N139	ABCA6_HUMAN	V	1534;394	ENSP00000284425:A1534V	ENSP00000284425:A1534V	A	-	2	0	ABCA6	64590624	1.000000	0.71417	0.939000	0.37840	0.322000	0.28314	5.629000	0.67798	2.787000	0.95880	0.650000	0.86243	GCT		0.433	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		A	67079029	G	A	67079029	3	1	312	1	0	0	0	0	1	0	0	0	36	971	34	2	268	2	ABCA6	17	67079029	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	31854	67079029	14116181	42	16749											
ZNF536	9745	broad.mit.edu	37	19	31039137	31039137	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr19:31039137G>C	ENST00000355537.3	+	4	2758	c.2611G>C	c.(2611-2613)Ggg>Cgg	p.G871R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	871					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G871R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGATCACTCGGGGCAGGCCAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	19											70	74	72					19																	31039137		2203	4300	6503	35730977	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2611G>C	19.37:g.31039137G>C	ENSP00000347730:p.Gly871Arg		35730977	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	1.482	-0.556844	0.03967	.	.	ENSG00000198597	ENST00000355537	T	0.07567	3.18	5.71	5.71	0.89125	.	0.276358	0.41823	N	0.000805	T	0.15003	0.0362	N	0.14661	0.345	0.53005	D	0.999966	D;D	0.71674	0.998;0.998	P;P	0.62649	0.905;0.905	T	0.16305	-1.0407	10	0.36615	T	0.2	-28.5431	19.8413	0.96690	0.0:0.0:1.0:0.0	.	871;871	A7E228;O15090	.;ZN536_HUMAN	R	871	ENSP00000347730:G871R	ENSP00000347730:G871R	G	+	1	0	ZNF536	35730977	1.000000	0.71417	0.270000	0.24601	0.033000	0.12548	4.345000	0.59360	2.705000	0.92388	0.579000	0.79373	GGG		0.582	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		C	31039137	G	C	31039137	3	2	312	1	0	0	0	0	1	0	0	0	17974	1232	43	3	2621	3	ZNF536	19	31039137	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08		31039137	28089846	43	16750											
KIAA0355	9710	broad.mit.edu	37	19	34833276	34833276	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr19:34833276C>T	ENST00000299505.6	+	10	3310	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	813								p.P813S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCGCAGGGACCTAGAAATAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	19											160	168	165					19																	34833276		2203	4300	6503	39525116	SO:0001583	missense	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2437C>T	19.37:g.34833276C>T	ENSP00000299505:p.Pro813Ser		39525116	Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695153	0.88830	.	.	ENSG00000166398	ENST00000299505	T	0.31769	1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45673	-0.9245	10	0.87932	D	0	-12.1428	18.4893	0.90841	0.0:1.0:0.0:0.0	.	813	O15063	K0355_HUMAN	S	813	ENSP00000299505:P813S	ENSP00000299505:P813S	P	+	1	0	KIAA0355	39525116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.584000	0.67490	2.614000	0.88457	0.655000	0.94253	CCT		0.502	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		T	34833276	C	T	34833276	3	4	312	1	0	0	0	0	1	0	0	0	8170	507	18	2	2471	2	KIAA0355	19	34833276	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	3794139	34833276	24295707	44	16751											
FCGBP	8857	broad.mit.edu	37	19	40368417	40368417	+	Missense_Mutation	SNP	C	C	T	rs547191912		TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr19:40368417C>T	ENST00000221347.6	-	28	12938	c.12931G>A	c.(12931-12933)Gtc>Atc	p.V4311I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4311						extracellular vesicular exosome (GO:0070062)		p.V4311I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCATGCAGACGTCCAGAACA	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		24316	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19											136	139	138					19																	40368417		2203	4297	6500	45060257	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12931G>A	19.37:g.40368417C>T	ENSP00000221347:p.Val4311Ile		45060257	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399284	0.25291	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	4.08	3.02	0.34903	Uncharacterised domain, cysteine-rich (2);	0.260617	0.31167	U	0.008139	T	0.71013	0.3290	M	0.65498	2.005	0.22240	N	0.999265	P	0.38395	0.629	B	0.30401	0.115	T	0.62459	-0.6850	10	0.34782	T	0.22	.	13.1363	0.59411	0.0:0.8378:0.1622:0.0	.	4311	Q9Y6R7	FCGBP_HUMAN	I	4311	ENSP00000221347:V4311I	ENSP00000221347:V4311I	V	-	1	0	FCGBP	45060257	0.000000	0.05858	0.992000	0.48379	0.728000	0.41692	-0.064000	0.11636	1.042000	0.40150	0.305000	0.20034	GTC		0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40368417	C	T	40368417	3	4	312	1	0	0	0	0	1	0	0	0	5778	536	19	1	3322	1	FCGBP	19	40368417	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08	5535141	40368417	18760566	45	16752											
FUT1	2523	broad.mit.edu	37	19	49253511	49253511	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr19:49253511G>A	ENST00000310160.3	-	4	2002	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	343					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)	p.A343V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CAGGAAGGCCGCCTCCGGCTT	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											40	38	39					19																	49253511		2203	4300	6503	53945323	SO:0001583	missense	2523				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.1028C>T	19.37:g.49253511G>A	ENSP00000312021:p.Ala343Val		53945323	O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979560	0.53827	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.97089	-4.24	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000016	D	0.98488	0.9496	M	0.86740	2.835	0.42134	D	0.991485	D	0.89917	1.0	D	0.91635	0.999	D	0.99470	1.0945	10	0.87932	D	0	-3.8309	15.4994	0.75684	0.0:0.0:1.0:0.0	.	343	P19526	FUT1_HUMAN	V	343;333	ENSP00000312021:A343V	ENSP00000312021:A343V	A	-	2	0	FUT1	53945323	0.999000	0.42202	0.373000	0.26003	0.060000	0.15804	5.751000	0.68720	2.619000	0.88677	0.561000	0.74099	GCG		0.567	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		A	49253511	G	A	49253511	3	1	312	1	0	0	0	0	1	0	0	0	6101	1087	38	1	73	1	FUT1	19	49253511	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	8885094	49253511	9875472	46	16753											
C22orf42	150297	broad.mit.edu	37	22	32545766	32545766	+	Splice_Site	SNP	G	G	C			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chr22:32545766G>C	ENST00000382097.3	-	8	728	c.656C>G	c.(655-657)gCa>gGa	p.A219G	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	219								p.A219G(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCTCTCCTTTGCCTGCAATAG	0.353																																																1	Substitution - Missense(1)	ovary(1)	22											33	34	34					22																	32545766		2199	4299	6498	30875766	SO:0001630	splice_region_variant	150297			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.655-1C>G	22.37:g.32545766G>C			30875766	A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	2.644	-0.283462	0.05642	.	.	ENSG00000205856	ENST00000382097	T	0.26373	1.74	0.598	-1.2	0.09554	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	P	0.41597	0.756	P	0.48114	0.567	T	0.15578	-1.0432	8	0.87932	D	0	.	.	.	.	.	219	Q6IC83	CV042_HUMAN	G	219	ENSP00000371529:A219G	ENSP00000371529:A219G	A	-	2	0	C22orf42	30875766	0.002000	0.14202	0.001000	0.08648	0.109000	0.19521	-0.362000	0.07602	-1.293000	0.02362	0.064000	0.15345	GCA		0.353	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859	Missense_Mutation	C	32545766	G	C	32545766	5	2	312	1	0	0	0	0	0	0	1	0	2149	1333	46	3	107	3	C22orf42	22	32545766	Splice_Site	SNP	G	TCGA-25-2393-01A-01W-0799-08		32545766	18758800	47	16754											
ODZ1	10178	broad.mit.edu	37	X	124029956	124029956	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chrX:124029956C>G	ENST00000371130.3	-	2	415	c.352G>C	c.(352-354)Gac>Cac	p.D118H	TENM1_ENST00000422452.2_Missense_Mutation_p.D118H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	118	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D118H(1)									AGTGCATGGTCAGGTGAGGCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	X											278	225	243					X																	124029956		2203	4300	6503	123857637	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.352G>C	X.37:g.124029956C>G	ENSP00000360171:p.Asp118His		123857637	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862187	0.51482	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.31510	1.49;1.49	5.56	5.56	0.83823	Teneurin intracellular, N-terminal (2);	0.240686	0.33309	N	0.005054	T	0.30417	0.0764	N	0.22421	0.69	0.47094	D	0.999316	B;B;B	0.32425	0.371;0.371;0.371	B;B;B	0.38985	0.287;0.287;0.287	T	0.14980	-1.0453	10	0.72032	D	0.01	.	18.7885	0.91964	0.0:1.0:0.0:0.0	.	118;118;118	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	118	ENSP00000360171:D118H;ENSP00000403954:D118H	ENSP00000360171:D118H	D	-	1	0	ODZ1	123857637	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	4.575000	0.60908	2.469000	0.83416	0.600000	0.82982	GAC		0.507	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		G	124029956	C	G	124029956	3	3	312	1	0	0	0	0	1	0	0	0	10834	826	29	3	7970	3	ODZ1	23	124029956	Missense_Mutation	SNP	C	TCGA-25-2393-01A-01W-0799-08		124029956	31240604	48	16755											
BCORL1	63035	broad.mit.edu	37	X	129148822	129148822	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2393-01A-01W-0799-08	TCGA-25-2393-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f2a76a1f-296b-4431-abba-8c4850f6bd9a	f02718de-eecc-4536-99dc-c4c41f8e6cdb	g.chrX:129148822G>A	ENST00000218147.7	+	4	2271	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	BCORL1_ENST00000359304.2_Missense_Mutation_p.E692K|BCORL1_ENST00000540052.1_Missense_Mutation_p.E692K|BCORL1_ENST00000303743.5_Missense_Mutation_p.E692K			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	692					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E692K(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CATCTTTCCCGAGATCGTGAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	X											70	58	62					X																	129148822		2203	4300	6503	128976503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2074G>A	X.37:g.129148822G>A	ENSP00000218147:p.Glu692Lys		128976503	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.62|13.62	2.290931|2.290931	0.40494|0.40494	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.48522|.	0.83;1.23;0.81;0.83;1.31|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.37178|.	N|.	0.002211|.	T|T	0.44477|0.44477	0.1295|0.1295	N|N	0.24115|0.24115	0.695|0.695	0.30684|0.30684	N|N	0.752011|0.752011	D;D|.	0.76494|.	0.999;0.976|.	P;B|.	0.61201|.	0.885;0.353|.	T|T	0.44832|0.44832	-0.9302|-0.9302	10|5	0.26408|.	T|.	0.33|.	-9.2769|-9.2769	18.0781|18.0781	0.89433|0.89433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	692;692|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	K|Q	692;692;692;692;292|127	ENSP00000218147:E692K;ENSP00000307541:E692K;ENSP00000352253:E692K;ENSP00000437775:E692K;ENSP00000399483:E292K|.	ENSP00000218147:E692K|.	E|R	+|+	1|2	0|0	BCORL1|BCORL1	128976503|128976503	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.333000|0.333000	0.28666|0.28666	4.592000|4.592000	0.61027|0.61027	2.205000|2.205000	0.71048|0.71048	0.436000|0.436000	0.28706|0.28706	GAG|CGA		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		A	129148822	G	A	129148822	3	1	312	1	0	0	0	0	1	0	0	0	1387	1059	37	1	2084	1	BCORL1	23	129148822	Missense_Mutation	SNP	G	TCGA-25-2393-01A-01W-0799-08	5118866	129148822	26121738	49	16756											
CA6	765	broad.mit.edu	37	1	9019055	9019055	+	Silent	SNP	C	C	T			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr1:9019055C>T	ENST00000377443.2	+	4	499	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CA6_ENST00000377436.3_Silent_p.F165F|CA6_ENST00000377442.2_Silent_p.F105F|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	165					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F165F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGGCAGCCTTCGTTGAGGTAA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	1											136	139	138					1																	9019055		2203	4300	6503	8941642	SO:0001819	synonymous_variant	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.495C>T	1.37:g.9019055C>T			8941642	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	CCDS30578.1																																																																																				0.408	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			T	9019055	C	T	9019055	2	4	313	1	0	0	0	0	0	0	0	1	2521	883	31	1		1	CA6	1	9019055	Silent	SNP	C	TCGA-25-2396-01A-01W-0799-08		9019055	240231566	1	16757											
DLGAP3	58512	broad.mit.edu	37	1	35370973	35370973	+	Silent	SNP	G	G	A			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr1:35370973G>A	ENST00000373347.1	-	3	280	c.12C>T	c.(10-12)taC>taT	p.Y4Y	DLGAP3_ENST00000495979.1_5'UTR|DLGAP3_ENST00000235180.4_Silent_p.Y4Y			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	4					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.Y4Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTCGCCATGGTAACCCCTCA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	1											3	3	3					1																	35370973		1987	3965	5952	35143560	SO:0001819	synonymous_variant	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.12C>T	1.37:g.35370973G>A			35143560	Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	CCDS30670.1																																																																																				0.592	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		A	35370973	G	A	35370973	2	1	313	1	0	0	0	0	0	0	0	1	4561	1256	44	2		2	DLGAP3	1	35370973	Silent	SNP	G	TCGA-25-2396-01A-01W-0799-08	26351918	35370973	213879648	2	16758											
STK40	83931	broad.mit.edu	37	1	36814314	36814314	+	Silent	SNP	G	G	A			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr1:36814314G>A	ENST00000373129.3	-	8	1132	c.726C>T	c.(724-726)ccC>ccT	p.P242P	STK40_ENST00000373132.3_Silent_p.P242P|STK40_ENST00000359297.2_Silent_p.P242P|STK40_ENST00000373130.3_Silent_p.P247P	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P242P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TGAGCACGTCGGGACTGATGT	0.582																																																2	Substitution - coding silent(2)	ovary(2)	1											105	80	88					1																	36814314		2203	4299	6502	36586901	SO:0001819	synonymous_variant	83931			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.726C>T	1.37:g.36814314G>A			36586901	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Silent	SNP	ENST00000373129.3	37	CCDS407.1																																																																																				0.582	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		A	36814314	G	A	36814314	2	1	313	1	0	0	0	0	0	0	0	1	15309	1103	39	1		1	STK40	1	36814314	Silent	SNP	G	TCGA-25-2396-01A-01W-0799-08	1443341	36814314	212436307	3	16759											
ASPM	259266	broad.mit.edu	37	1	197071077	197071077	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr1:197071077A>G	ENST00000367409.4	-	18	7560	c.7304T>C	c.(7303-7305)aTt>aCt	p.I2435T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2435	IQ 25. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I2435T(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGAACAAAAATAGTAGCTTT	0.373																																																1	Substitution - Missense(1)	ovary(1)	1											84	87	86					1																	197071077		2203	4296	6499	195337700	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7304T>C	1.37:g.197071077A>G	ENSP00000356379:p.Ile2435Thr		195337700	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	a	10.96	1.498112	0.26861	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.73469	-0.75	4.13	1.53	0.23141	.	0.426980	0.19498	N	0.112810	T	0.80352	0.4607	M	0.73962	2.25	0.18873	N	0.999984	P;B	0.40230	0.708;0.397	P;B	0.57152	0.814;0.325	T	0.68224	-0.5465	10	0.45353	T	0.12	.	6.0365	0.19710	0.5986:0.1407:0.0:0.2607	.	421;2435	E7EQ84;Q8IZT6	.;ASPM_HUMAN	T	2435;421	ENSP00000356379:I2435T	ENSP00000356376:I421T	I	-	2	0	ASPM	195337700	0.187000	0.23238	0.045000	0.18777	0.895000	0.52256	4.349000	0.59385	0.697000	0.31718	0.456000	0.33151	ATT		0.373	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197071077	A	G	197071077	3	3	313	1	0	0	0	0	1	0	0	0	1056	101	4	4	3173	4	ASPM	1	197071077	Missense_Mutation	SNP	A	TCGA-25-2396-01A-01W-0799-08	160256763	197071077	52179544	4	16760											
C2orf29	55571	broad.mit.edu	37	2	101874319	101874319	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr2:101874319G>C	ENST00000289382.3	+	2	744	c.581G>C	c.(580-582)cGg>cCg	p.R194P		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	194					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R194P(1)									GCACCCCCACGGGAACTCTTC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											77	74	75					2																	101874319		2203	4300	6503	101240751	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.581G>C	2.37:g.101874319G>C	ENSP00000289382:p.Arg194Pro		101240751	Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904102	0.92035	.	.	ENSG00000158435	ENST00000289382	T	0.36157	1.27	6.01	6.01	0.97437	.	0.046006	0.85682	D	0.000000	T	0.54303	0.1850	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.30268	-0.9984	10	0.27785	T	0.31	-30.0523	20.5751	0.99360	0.0:0.0:1.0:0.0	.	194	Q9UKZ1	CB029_HUMAN	P	194	ENSP00000289382:R194P	ENSP00000289382:R194P	R	+	2	0	C2orf29	101240751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.717000	0.84732	2.869000	0.98440	0.558000	0.71614	CGG		0.473	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		C	101874319	G	C	101874319	3	2	313	1	0	0	0	0	1	0	0	0	2161	1116	39	3	587	3	C2orf29	2	101874319	Missense_Mutation	SNP	G	TCGA-25-2396-01A-01W-0799-08		101874319	141325054	5	16761											
IWS1	55677	broad.mit.edu	37	2	128262465	128262467	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	CTT	CTT	-	-	CTT	CTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr2:128262465_128262467delCTT	ENST00000295321.4	-	3	1271_1273	c.1012_1014delAAG	c.(1012-1014)aagdel	p.K338del	IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_In_Frame_Del_p.K345del|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	338	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K338del(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TATCCTCTCCCTTATTCTCCCTG	0.478																																																1	Deletion - In frame(1)	ovary(1)	2																																								127978937	SO:0001651	inframe_deletion	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1012_1014delAAG	2.37:g.128262465_128262467delCTT	ENSP00000295321:p.Lys338del		127978935	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	In_Frame_Del	DEL	ENST00000295321.4	37	CCDS2146.1																																																																																				0.478	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		-	128262467	CTT	-	128262465	7	5	313	1	0	1	0	1	0	0	0	0	7931	680	24	0	1493	0	IWS1	2	128262465	In_Frame_Del	DEL	CTT	TCGA-25-2396-01A-01W-0799-08	26388146	128262465	114936908	6	16762											
SCN10A	6336	broad.mit.edu	37	3	38770224	38770224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr3:38770224G>A	ENST00000449082.2	-	15	2448	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	817					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R817*(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATATTTTTTCGGTTGTTACGG	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	3											125	126	126					3																	38770224		2203	4300	6503	38745228	SO:0001587	stop_gained	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2449C>T	3.37:g.38770224G>A	ENSP00000390600:p.Arg817*		38745228	A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831187	0.71258	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.75	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	2.468	0.04557	0.1323:0.1878:0.2164:0.4634	.	.	.	.	X	817	.	ENSP00000390600:R817X	R	-	1	2	SCN10A	38745228	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.063000	0.11655	-0.311000	0.08754	-0.181000	0.13052	CGA		0.532	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38770224	G	A	38770224	4	1	313	1	0	0	0	0	0	1	0	0	13915	1124	39	1	3473	1	SCN10A	3	38770224	Nonsense_Mutation	SNP	G	TCGA-25-2396-01A-01W-0799-08		38770224	159252206	7	16763											
GABRA4	2557	broad.mit.edu	37	4	46979124	46979124	+	Silent	SNP	C	C	G			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr4:46979124C>G	ENST00000264318.3	-	5	1513	c.531G>C	c.(529-531)gtG>gtC	p.V177V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	177					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|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.V177V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					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)	TGGGAAAATCCACCAATCTCA	0.338																																					Ovarian(6;283 369 8234 12290 33402)											1	Substitution - coding silent(1)	ovary(1)	4											57	55	56					4																	46979124		2203	4300	6503	46673881	SO:0001819	synonymous_variant	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.531G>C	4.37:g.46979124C>G			46673881	Q8IYR7	Silent	SNP	ENST00000264318.3	37	CCDS3473.1																																																																																				0.338	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			G	46979124	C	G	46979124	2	3	313	1	0	0	0	0	0	0	0	1	6163	581	21	3		3	GABRA4	4	46979124	Silent	SNP	C	TCGA-25-2396-01A-01W-0799-08		46979124	144175152	8	16764											
BBS12	166379	broad.mit.edu	37	4	123664599	123664599	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr4:123664599A>G	ENST00000314218.3	+	2	1745	c.1552A>G	c.(1552-1554)Agg>Ggg	p.R518G	BBS12_ENST00000542236.1_Missense_Mutation_p.R518G	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	518					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.R518G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAAAGAAGATAGGTTCTGGAC	0.398									Bardet-Biedl syndrome																																							1	Substitution - Missense(1)	ovary(1)	4											129	127	128					4																	123664599		2203	4300	6503	123884049	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1552A>G	4.37:g.123664599A>G	ENSP00000319062:p.Arg518Gly		123884049	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103681	0.56291	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.79653	-1.29;-1.29	5.71	-1.95	0.07548	.	0.322741	0.31734	N	0.007156	T	0.71178	0.3309	L	0.60455	1.87	0.09310	N	1	P	0.39717	0.684	B	0.37780	0.258	T	0.63773	-0.6561	10	0.20046	T	0.44	-31.0401	11.3168	0.49396	0.4325:0.4982:0.0692:0.0	.	518	Q6ZW61	BBS12_HUMAN	G	518	ENSP00000319062:R518G;ENSP00000438273:R518G	ENSP00000319062:R518G	R	+	1	2	BBS12	123884049	0.036000	0.19791	0.646000	0.29493	0.989000	0.77384	1.360000	0.34125	0.076000	0.16826	0.482000	0.46254	AGG		0.398	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		G	123664599	A	G	123664599	3	3	313	1	0	0	0	0	1	0	0	0	1337	411	15	4	1554	4	BBS12	4	123664599	Missense_Mutation	SNP	A	TCGA-25-2396-01A-01W-0799-08	76685475	123664599	67489677	9	16765											
TRAF3IP2	10758	broad.mit.edu	37	6	111901531	111901531	+	Silent	SNP	C	C	T			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr6:111901531C>T	ENST00000340026.6	-	4	1512	c.918G>A	c.(916-918)caG>caA	p.Q306Q	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Silent_p.Q297Q|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Silent_p.Q297Q			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	306					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.Q306Q(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)		CAGGCAGGGGCTGCCCAGGCA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	6											62	66	65					6																	111901531		2203	4300	6503	112008224	SO:0001819	synonymous_variant	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.918G>A	6.37:g.111901531C>T			112008224	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37																																																																																					0.587	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			T	111901531	C	T	111901531	2	4	313	1	0	0	0	0	0	0	0	1	16441	796	28	2		2	TRAF3IP2	6	111901531	Silent	SNP	C	TCGA-25-2396-01A-01W-0799-08		111901531	59213536	10	16766											
KIAA1539	80256	broad.mit.edu	37	9	35107610	35107610	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr9:35107610T>C	ENST00000378561.1	-	2	3717	c.662A>G	c.(661-663)aAt>aGt	p.N221S	FAM214B_ENST00000603301.1_Missense_Mutation_p.N221S|FAM214B_ENST00000488109.2_Missense_Mutation_p.N221S|FAM214B_ENST00000378554.2_Missense_Mutation_p.N221S|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378557.1_Missense_Mutation_p.N221S|FAM214B_ENST00000605244.1_Missense_Mutation_p.N221S|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000322813.5_Missense_Mutation_p.N221S			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	221						nucleus (GO:0005634)		p.N221S(1)									ACTGTGCCCATTGGCAGTGCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	9											35	42	40					9																	35107610		2203	4300	6503	35097610	SO:0001583	missense	80256			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.662A>G	9.37:g.35107610T>C	ENSP00000367823:p.Asn221Ser		35097610	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561816	0.65538	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.87	4.87	0.63330	.	0.278391	0.34750	N	0.003714	T	0.63141	0.2486	L	0.29908	0.895	0.38768	D	0.954476	D	0.69078	0.997	D	0.70716	0.97	T	0.64300	-0.6440	8	.	.	.	-20.8433	13.8021	0.63206	0.0:0.0:0.0:1.0	.	221	Q7L5A3	K1539_HUMAN	S	221	.	.	N	-	2	0	KIAA1539	35097610	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.522000	0.60539	2.048000	0.60808	0.454000	0.30748	AAT		0.642	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		C	35107610	T	C	35107610	3	2	313	1	0	0	0	0	1	0	0	0	8242	1493	52	4	982	4	KIAA1539	9	35107610	Missense_Mutation	SNP	T	TCGA-25-2396-01A-01W-0799-08		35107610	106105821	11	16767											
NR4A3	8013	broad.mit.edu	37	9	102595008	102595008	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr9:102595008C>A	ENST00000395097.2	+	4	1718	c.989C>A	c.(988-990)gCa>gAa	p.A330E	NR4A3_ENST00000330847.1_Missense_Mutation_p.A341E|NR4A3_ENST00000338488.4_Missense_Mutation_p.A330E	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	330					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.A341E(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GTTTGCCTGGCAAATAAAAAC	0.393			T	EWSR1	extraskeletal myxoid chondrosarcoma																																		Dom	yes		9	9q22	8013	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"		M	1	Substitution - Missense(1)	ovary(1)	9											104	100	101					9																	102595008		2203	4300	6503	101634829	SO:0001583	missense	8013			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.989C>A	9.37:g.102595008C>A	ENSP00000378531:p.Ala330Glu		101634829	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736717	0.89482	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	D;D;D	0.97114	-4.25;-4.25;-4.25	5.6	5.6	0.85130	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.050565	0.85682	D	0.000000	D	0.97483	0.9176	L	0.37630	1.12	0.80722	D	1	D;D;P	0.89917	1.0;0.967;0.537	D;P;B	0.87578	0.998;0.897;0.144	D	0.97255	0.9900	10	0.41790	T	0.15	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	341;330;330	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	E	330;330;154;341	ENSP00000378531:A330E;ENSP00000340301:A330E;ENSP00000333122:A341E	ENSP00000333122:A341E	A	+	2	0	NR4A3	101634829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.788000	0.95919	0.650000	0.86243	GCA		0.393	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			A	102595008	C	A	102595008	3	1	313	1	0	0	0	0	1	0	0	0	10634	710	25	3	1032	3	NR4A3	9	102595008	Missense_Mutation	SNP	C	TCGA-25-2396-01A-01W-0799-08	67487398	102595008	38618423	12	16768											
ANKRD26	22852	broad.mit.edu	37	10	27326144	27326144	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr10:27326144C>T	ENST00000376087.4	-	23	2833	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E906K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E447K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	889					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E890K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGAGCCATTTCAATCTCCTTT	0.323																																																1	Substitution - Missense(1)	ovary(1)	10											127	114	118					10																	27326144		1837	4076	5913	27366150	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2668G>A	10.37:g.27326144C>T	ENSP00000365255:p.Glu890Lys		27366150	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414508	0.62511	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.38722	3.67;1.12;1.16	5.34	3.38	0.38709	.	0.000000	0.49305	U	0.000147	T	0.60728	0.2291	M	0.73217	2.22	0.24366	N	0.994853	D;D;D	0.63880	0.974;0.957;0.993	P;P;D	0.72625	0.805;0.643;0.978	T	0.54417	-0.8297	10	0.72032	D	0.01	.	12.2261	0.54461	0.0:0.673:0.327:0.0	.	890;889;906	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	K	447;890;906	ENSP00000365238:E447K;ENSP00000365255:E890K;ENSP00000405112:E906K	ENSP00000365238:E447K	E	-	1	0	ANKRD26	27366150	1.000000	0.71417	0.035000	0.18076	0.745000	0.42441	4.024000	0.57218	1.235000	0.43724	0.585000	0.79938	GAA		0.323	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			T	27326144	C	T	27326144	3	4	313	1	0	0	0	0	1	0	0	0	654	835	29	2	2512	2	ANKRD26	10	27326144	Missense_Mutation	SNP	C	TCGA-25-2396-01A-01W-0799-08		27326144	108208603	13	16769											
OR8J1	219477	broad.mit.edu	37	11	56128338	56128338	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr11:56128338A>T	ENST00000303039.3	+	1	648	c.616A>T	c.(616-618)Aat>Tat	p.N206Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N206Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGCAGCAACAAATGTGGTTGG	0.299																																																1	Substitution - Missense(1)	ovary(1)	11											169	158	162					11																	56128338		2201	4296	6497	55884914	SO:0001583	missense	219477			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.616A>T	11.37:g.56128338A>T	ENSP00000304060:p.Asn206Tyr		55884914	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	A	9.906	1.208212	0.22205	.	.	ENSG00000172487	ENST00000303039	T	0.00130	8.69	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.080970	0.53938	D	0.000059	T	0.00384	0.0012	M	0.71920	2.185	0.19575	N	0.999963	D	0.53619	0.961	D	0.64687	0.928	T	0.43261	-0.9402	10	0.87932	D	0	.	10.9929	0.47559	1.0:0.0:0.0:0.0	.	206	Q8NGP2	OR8J1_HUMAN	Y	206	ENSP00000304060:N206Y	ENSP00000304060:N206Y	N	+	1	0	OR8J1	55884914	0.000000	0.05858	0.954000	0.39281	0.163000	0.22366	-0.304000	0.08199	1.772000	0.52199	0.448000	0.29417	AAT		0.299	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		T	56128338	A	T	56128338	3	4	313	1	0	0	0	0	1	0	0	0	11241	14	1	5	618	5	OR8J1	11	56128338	Missense_Mutation	SNP	A	TCGA-25-2396-01A-01W-0799-08		56128338	78878178	14	16770											
OR5A1	219982	broad.mit.edu	37	11	59211350	59211350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr11:59211350C>T	ENST00000302030.2	+	1	734	c.709C>T	c.(709-711)Cga>Tga	p.R237*		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R237*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGCAGAGGGCCGATGGAAAGC	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	11											257	215	229					11																	59211350		2201	4295	6496	58967926	SO:0001587	stop_gained	219982			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.709C>T	11.37:g.59211350C>T	ENSP00000303096:p.Arg237*		58967926	B9EH58|Q6IFF2|Q96RB1	Nonsense_Mutation	SNP	ENST00000302030.2	37	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278495	0.23307	.	.	ENSG00000172320	ENST00000302030	.	.	.	5.98	0.101	0.14517	.	0.291504	0.23922	N	0.043237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7219	10.2104	0.43136	0.5557:0.3744:0.0:0.0699	.	.	.	.	X	237	.	ENSP00000303096:R237X	R	+	1	2	OR5A1	58967926	0.000000	0.05858	0.018000	0.16275	0.011000	0.07611	-0.261000	0.08694	0.113000	0.18004	-0.912000	0.02778	CGA		0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		T	59211350	C	T	59211350	4	4	313	1	0	0	0	0	0	1	0	0	11139	644	23	1	711	1	OR5A1	11	59211350	Nonsense_Mutation	SNP	C	TCGA-25-2396-01A-01W-0799-08	3083012	59211350	75795166	15	16771											
ATP11A	23250	broad.mit.edu	37	13	113485841	113485841	+	Silent	SNP	G	G	A			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr13:113485841G>A	ENST00000487903.1	+	13	1462	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	ATP11A_ENST00000283558.8_Silent_p.S458S|ATP11A_ENST00000375630.2_Silent_p.S458S|ATP11A_ENST00000375645.3_Silent_p.S458S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	458					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S458S(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGATTGACTCGTCCCCCAGCG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	13											130	93	105					13																	113485841		2203	4300	6503	112533842	SO:0001819	synonymous_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1374G>A	13.37:g.113485841G>A			112533842	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	7.298	0.612382	0.14066	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.45	-10.9	0.00192	.	.	.	.	.	T	0.32133	0.0819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41413	-0.9510	4	.	.	.	.	1.7746	0.03019	0.2425:0.1571:0.1305:0.4699	.	.	.	.	H	433	.	.	R	+	2	0	ATP11A	112533842	0.014000	0.17966	0.073000	0.20177	0.651000	0.38670	-1.056000	0.03489	-2.944000	0.00296	-0.311000	0.09066	CGT		0.607	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113485841	G	A	113485841	2	1	313	1	0	0	0	0	0	0	0	1	1119	1132	40	1		1	ATP11A	13	113485841	Silent	SNP	G	TCGA-25-2396-01A-01W-0799-08		113485841	1684037	16	16772											
AP1G2	8906	broad.mit.edu	37	14	24035342	24035342	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr14:24035342G>A	ENST00000308724.5	-	4	1254	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.R167W	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	167					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.R167W(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGACCTTCCGGATCATGTGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	14											48	49	49					14																	24035342		2203	4300	6503	23105182	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.499C>T	14.37:g.24035342G>A	ENSP00000312442:p.Arg167Trp		23105182	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693599	0.68386	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189	T;T;T	0.28666	1.6;1.6;1.6	5.2	5.2	0.72013	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.71467	-0.4584	10	0.87932	D	0	-22.6974	11.1833	0.48642	0.0:0.0:0.8168:0.1832	.	167;167	G3V532;O75843	.;AP1G2_HUMAN	W	167	ENSP00000312442:R167W;ENSP00000380309:R167W;ENSP00000452153:R167W	ENSP00000312442:R167W	R	-	1	2	AP1G2	23105182	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.175000	0.50855	2.698000	0.92095	0.561000	0.74099	CGG		0.572	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		A	24035342	G	A	24035342	3	1	313	1	0	0	0	0	1	0	0	0	733	1115	39	1	1930	1	AP1G2	14	24035342	Missense_Mutation	SNP	G	TCGA-25-2396-01A-01W-0799-08		24035342	83314198	17	16773											
ARID4A	5926	broad.mit.edu	37	14	58831412	58831412	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr14:58831412A>G	ENST00000355431.3	+	20	2978	c.2605A>G	c.(2605-2607)Ata>Gta	p.I869V	ARID4A_ENST00000395168.3_Missense_Mutation_p.I869V|ARID4A_ENST00000431317.2_Missense_Mutation_p.I869V|ARID4A_ENST00000348476.3_Missense_Mutation_p.I869V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	869					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I869V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGAAAAAAATAAGAATTGA	0.323																																																1	Substitution - Missense(1)	ovary(1)	14											57	53	54					14																	58831412		2203	4297	6500	57901165	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2605A>G	14.37:g.58831412A>G	ENSP00000347602:p.Ile869Val		57901165	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474615	0.26511	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.14144	2.56;2.55;2.55;2.55;2.53	5.59	-7.4	0.01397	.	1.281460	0.04675	N	0.411283	T	0.08358	0.0208	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37361	-0.9709	10	0.41790	T	0.15	0.0017	0.6438	0.00815	0.1914:0.2736:0.1768:0.3583	.	869;869;869	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	V	869;869;869;869;547	ENSP00000347602:I869V;ENSP00000344556:I869V;ENSP00000378597:I869V;ENSP00000397368:I869V;ENSP00000416053:I547V	ENSP00000344556:I869V	I	+	1	0	ARID4A	57901165	0.000000	0.05858	0.389000	0.26208	0.985000	0.73830	-0.431000	0.06965	-0.891000	0.03940	-0.256000	0.11100	ATA		0.323	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		G	58831412	A	G	58831412	3	3	313	1	0	0	0	0	1	0	0	0	919	101	4	4	2679	4	ARID4A	14	58831412	Missense_Mutation	SNP	A	TCGA-25-2396-01A-01W-0799-08	34796070	58831412	48518128	18	16774											
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	313	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-25-2396-01A-01W-0799-08		7578265	73616945	19	16775											
JAK3	3718	broad.mit.edu	37	19	17950423	17950423	+	Missense_Mutation	SNP	G	G	A	rs199706172		TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chr19:17950423G>A	ENST00000527670.1	-	9	1333	c.1304C>T	c.(1303-1305)aCa>aTa	p.T435I	JAK3_ENST00000534444.1_Missense_Mutation_p.T435I|JAK3_ENST00000458235.1_Missense_Mutation_p.T435I|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	435	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.T435I(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GAAGGTTCCTGTGGGGCTGCG	0.612		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	1	Substitution - Missense(1)	ovary(1)	19						G	ILE/THR	0,4406		0,0,2203	32	30	31		1304	0.1	0	19		31	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAK3	NM_000215.3	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	435/1125	17950423	1,13005	2203	4300	6503	17811423	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1304C>T	19.37:g.17950423G>A	ENSP00000432511:p.Thr435Ile		17811423	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	0.606	-0.827109	0.02734	0.0	1.16E-4	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.26660	1.72;1.72;1.72	3.84	0.079	0.14414	SH2 motif (2);	1.183550	0.06232	N	0.688845	T	0.17066	0.0410	N	0.22421	0.69	0.09310	N	1	P;B;B	0.37276	0.589;0.419;0.421	B;B;B	0.35971	0.215;0.189;0.072	T	0.27226	-1.0080	10	0.54805	T	0.06	-0.1038	6.4874	0.22097	0.0:0.354:0.4624:0.1836	.	435;435;435	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	I	435	ENSP00000391676:T435I;ENSP00000432511:T435I;ENSP00000436421:T435I	ENSP00000413248:T435I	T	-	2	0	JAK3	17811423	0.038000	0.19896	0.003000	0.11579	0.005000	0.04900	1.203000	0.32284	-0.052000	0.13311	0.455000	0.32223	ACA		0.612	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		A	17950423	G	A	17950423	3	1	313	1	0	0	0	0	1	0	0	0	7939	1377	48	2	2130	2	JAK3	19	17950423	Missense_Mutation	SNP	G	TCGA-25-2396-01A-01W-0799-08		17950423	41178560	20	16776											
CASK	8573	broad.mit.edu	37	X	41390350	41390350	+	Silent	SNP	G	G	A			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chrX:41390350G>A	ENST00000378163.1	-	25	2904	c.2430C>T	c.(2428-2430)agC>agT	p.S810S	CASK_ENST00000378166.4_Silent_p.S805S|CASK_ENST00000442742.2_Silent_p.S782S|CASK_ENST00000361962.4_Silent_p.S793S|CASK_ENST00000378158.1_Silent_p.S793S|CASK_ENST00000318588.9_Silent_p.S805S|CASK_ENST00000421587.2_Silent_p.S781S			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	810	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.S805S(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATCCTCGTGGCTGCCGTACT	0.463																																					NSCLC(42;104 1086 3090 27189 35040)											1	Substitution - coding silent(1)	ovary(1)	X											207	139	162					X																	41390350		2203	4300	6503	41275294	SO:0001819	synonymous_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2430C>T	X.37:g.41390350G>A			41275294	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37																																																																																					0.463	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		A	41390350	G	A	41390350	2	1	313	1	0	0	0	0	0	0	0	1	2665	1194	42	2		2	CASK	23	41390350	Silent	SNP	G	TCGA-25-2396-01A-01W-0799-08		41390350	113880210	21	16777											
ABCB7	22	broad.mit.edu	37	X	74375965	74375965	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chrX:74375965G>A	ENST00000373394.3	-	1	150	c.143C>T	c.(142-144)gCc>gTc	p.A48V	ABCB7_ENST00000339447.4_Missense_Mutation_p.A48V|ABCB7_ENST00000253577.3_Missense_Mutation_p.A48V			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	48					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)	p.A48V(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GGTTCCCAAGGCGCCGAGTTG	0.597											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	X											43	30	34					X																	74375965		2203	4300	6503	74292690	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.143C>T	X.37:g.74375965G>A	ENSP00000362492:p.Ala48Val	1152	74292690	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	G	12.41	1.928741	0.34002	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;D;T	0.91068	-2.36;-2.43;-2.36;-2.78;1.48	4.74	-1.99	0.07457	.	0.920566	0.09184	N	0.837000	T	0.80287	0.4595	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.64162	-0.6472	10	0.42905	T	0.14	-0.0015	0.6883	0.00887	0.1928:0.2991:0.2256:0.2825	.	48;48;48;48;48	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	V	48;48;48;48;48;48;60	ENSP00000253577:A48V;ENSP00000343849:A48V;ENSP00000362492:A48V;ENSP00000436586:A48V;ENSP00000435521:A48V	ENSP00000253577:A48V	A	-	2	0	ABCB7	74292690	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	-0.490000	0.06482	-0.366000	0.08064	0.513000	0.50165	GCC		0.597	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		A	74375965	G	A	74375965	3	1	313	1	0	0	0	0	1	0	0	0	46	1203	42	2	2182	2	ABCB7	23	74375965	Missense_Mutation	SNP	G	TCGA-25-2396-01A-01W-0799-08	32985615	74375965	80894595	22	16778											
F9	2158	broad.mit.edu	37	X	138623284	138623284	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2396-01A-01W-0799-08	TCGA-25-2396-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	a14e4f10-4ffd-42af-b340-641e62101a90	a85bfc07-cb19-4f18-95c7-306d862c2083	g.chrX:138623284G>C	ENST00000218099.2	+	4	334	c.327G>C	c.(325-327)aaG>aaC	p.K109N	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	109	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.K109N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GCAGTTGCAAGGATGACATTA	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											218	175	189					X																	138623284		2203	4300	6503	138450950	SO:0001583	missense	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.327G>C	X.37:g.138623284G>C	ENSP00000218099:p.Lys109Asn		138450950	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211021	0.58343	.	.	ENSG00000101981	ENST00000218099	D	0.92199	-2.99	5.81	4.96	0.65561	Gamma-carboxyglutamic acid-rich (GLA) domain (1);EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.142348	0.64402	D	0.000007	D	0.86900	0.6044	N	0.04669	-0.19	0.80722	D	1	D	0.54207	0.965	P	0.55615	0.78	D	0.87290	0.2298	10	0.62326	D	0.03	.	8.0444	0.30540	0.1854:0.0:0.8146:0.0	.	109	P00740	FA9_HUMAN	N	109	ENSP00000218099:K109N	ENSP00000218099:K109N	K	+	3	2	F9	138450950	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.022000	0.30052	1.213000	0.43380	0.594000	0.82650	AAG		0.373	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			C	138623284	G	C	138623284	3	2	313	1	0	0	0	0	1	0	0	0	5351	991	35	3	341	3	F9	23	138623284	Missense_Mutation	SNP	G	TCGA-25-2396-01A-01W-0799-08	64247319	138623284	16647276	23	16779											
TNFRSF9	3604	broad.mit.edu	37	1	8000029	8000029	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr1:8000029A>T	ENST00000377507.3	-	2	192	c.26T>A	c.(25-27)gTa>gAa	p.V9E		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	9					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.V9E(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAGTGGCTACTATGTTGTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											118	104	109					1																	8000029		2203	4300	6503	7922616	SO:0001583	missense	3604			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"Tumor necrosis factor receptor superfamily", "CD molecules"	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.26T>A	1.37:g.8000029A>T	ENSP00000366729:p.Val9Glu		7922616		Missense_Mutation	SNP	ENST00000377507.3	37	CCDS92.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759146	0.31137	.	.	ENSG00000049249	ENST00000377507	T	0.08193	3.12	4.43	3.21	0.36854	.	0.193215	0.33670	N	0.004673	T	0.05823	0.0152	L	0.34521	1.04	0.09310	N	1	B	0.32203	0.36	B	0.27796	0.083	T	0.29640	-1.0005	10	0.45353	T	0.12	-12.3035	6.7621	0.23546	0.7914:0.0:0.0:0.2086	.	9	Q07011	TNR9_HUMAN	E	9	ENSP00000366729:V9E	ENSP00000366729:V9E	V	-	2	0	TNFRSF9	7922616	0.037000	0.19845	0.059000	0.19551	0.005000	0.04900	1.611000	0.36879	1.974000	0.57490	0.460000	0.39030	GTA		0.428	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			T	8000029	A	T	8000029	3	4	314	1	0	0	0	0	1	0	0	0	16300	391	14	5	769	5	TNFRSF9	1	8000029	Missense_Mutation	SNP	A	TCGA-25-2398-01A-01W-0799-08		8000029	241250592	1	16780											
YBX1	4904	broad.mit.edu	37	1	43149119	43149119	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr1:43149119G>T	ENST00000321358.7	+	2	351	c.212G>T	c.(211-213)gGa>gTa	p.G71V	YBX1_ENST00000467957.1_3'UTR|RP5-994D16.3_ENST00000414339.1_lincRNA	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	71	CSD.|Interaction with ss-DNA.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.G71V(1)		large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTAAGGAACGGATATGGTTTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											119	118	118					1																	43149119		2203	4300	6503	42921706	SO:0001583	missense	4904			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"nuclease sensitive element binding protein 1"	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.212G>T	1.37:g.43149119G>T	ENSP00000361626:p.Gly71Val		42921706	P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	CCDS470.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938041	0.52972	.	.	ENSG00000065978	ENST00000321358;ENST00000332220;ENST00000318612	T;T	0.70869	-0.52;-0.01	4.84	3.91	0.45181	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.098719	0.64402	D	0.000001	D	0.84911	0.5577	H	0.97186	3.955	0.80722	D	1	D	0.63046	0.992	P	0.57502	0.822	D	0.86032	0.1514	10	0.87932	D	0	.	7.0001	0.24805	0.0943:0.1779:0.7278:0.0	.	71	P67809	YBOX1_HUMAN	V	71;71;67	ENSP00000361626:G71V;ENSP00000405937:G71V	ENSP00000361621:G67V	G	+	2	0	YBX1	42921706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.977000	0.76141	1.120000	0.41904	0.655000	0.94253	GGA		0.488	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		T	43149119	G	T	43149119	3	4	314	1	0	0	0	0	1	0	0	0	17469	1174	41	3	218	3	YBX1	1	43149119	Missense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08	35149090	43149119	206101502	2	16781											
NPR1	4881	broad.mit.edu	37	1	153659765	153659765	+	Silent	SNP	G	G	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr1:153659765G>A	ENST00000368680.3	+	13	2497	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	675	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.K675K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTGTGCTCAAGATCACCGACT	0.537																																					Pancreas(141;1349 1870 15144 15830 40702)											1	Substitution - coding silent(1)	ovary(1)	1											135	110	119					1																	153659765		2203	4300	6503	151926389	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2025G>A	1.37:g.153659765G>A			151926389	B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	CCDS1051.1																																																																																				0.537	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		A	153659765	G	A	153659765	2	1	314	1	0	0	0	0	0	0	0	1	10594	933	33	2		2	NPR1	1	153659765	Silent	SNP	G	TCGA-25-2398-01A-01W-0799-08	110510646	153659765	95590856	3	16782											
INPP5D	3635	broad.mit.edu	37	2	233990542	233990542	+	Nonsense_Mutation	SNP	C	C	G			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr2:233990542C>G	ENST00000359570.5	+	4	437	c.437C>G	c.(436-438)tCa>tGa	p.S146*	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Nonsense_Mutation_p.S146*			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	146					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.F28L(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTTCCTTTTTCAAACGAGAAT	0.587																																					NSCLC(82;1215 1426 16163 20348 41018)											1	Substitution - Missense(1)	ovary(1)	2											38	44	42					2																	233990542		2139	4246	6385	233698786	SO:0001587	stop_gained	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.437C>G	2.37:g.233990542C>G	ENSP00000352575:p.Ser146*		233698786	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Nonsense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	C	12.93	2.084393	0.36758	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	.	.	.	5.23	-0.88	0.10610	.	2.413690	0.01580	N	0.021043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	6.0724	0.19897	0.0:0.4547:0.1264:0.4189	.	.	.	.	X	145;146;146;146	.	ENSP00000352575:S146X	S	+	2	0	INPP5D	233698786	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.243000	0.08915	-0.548000	0.06199	0.650000	0.86243	TCA		0.587	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		G	233990542	C	G	233990542	4	3	314	1	0	0	0	0	0	1	0	0	7756	838	29	3	451	3	INPP5D	2	233990542	Nonsense_Mutation	SNP	C	TCGA-25-2398-01A-01W-0799-08		233990542	9208831	4	16783											
SENP7	57337	broad.mit.edu	37	3	101050938	101050938	+	Silent	SNP	G	G	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr3:101050938G>A	ENST00000394095.2	-	19	2642	c.2589C>T	c.(2587-2589)ctC>ctT	p.L863L	SENP7_ENST00000348610.3_Silent_p.L830L|SENP7_ENST00000314261.7_Silent_p.L797L|SENP7_ENST00000358203.3_Silent_p.L699L|SENP7_ENST00000394091.1_Silent_p.L699L|SENP7_ENST00000394085.3_Silent_p.L51L|SENP7_ENST00000394094.2_Silent_p.L798L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	863	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L797L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAATGACTGCGAGATACCAGT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	3											114	108	110					3																	101050938		2203	4300	6503	102533628	SO:0001819	synonymous_variant	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2589C>T	3.37:g.101050938G>A			102533628	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	CCDS2941.2																																																																																				0.383	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		A	101050938	G	A	101050938	2	1	314	1	0	0	0	0	0	0	0	1	14054	1045	37	1		1	SENP7	3	101050938	Silent	SNP	G	TCGA-25-2398-01A-01W-0799-08		101050938	96971492	5	16784											
MUC21	394263	broad.mit.edu	37	6	30954260	30954260	+	Missense_Mutation	SNP	G	G	A	rs200529075		TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr6:30954260G>A	ENST00000376296.3	+	2	549	c.308G>A	c.(307-309)aGc>aAc	p.S103N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	103	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S103N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGATCAGCATAGCCACC	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											217	189	198					6																	30954260		2203	4300	6503	31062239	SO:0001583	missense	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.308G>A	6.37:g.30954260G>A	ENSP00000365473:p.Ser103Asn		31062239	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652768	0.29336	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.03441	3.93	2.69	1.67	0.24075	.	.	.	.	.	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.50717	-0.8795	8	.	.	.	.	4.664	0.12657	0.0:0.2399:0.5149:0.2452	.	103	Q5SSG8	MUC21_HUMAN	N	103	ENSP00000365473:S103N	.	S	+	2	0	MUC21	31062239	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-1.327000	0.02682	1.534000	0.49203	0.485000	0.47835	AGC		0.577	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		A	30954260	G	A	30954260	3	1	314	1	0	0	0	0	1	0	0	0	9977	971	34	2	314	2	MUC21	6	30954260	Missense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08		30954260	140160807	6	16785											
GPR141	353345	broad.mit.edu	37	7	37780789	37780789	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr7:37780789A>G	ENST00000447769.1	+	4	1083	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.Y265C			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y265C(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTGCATTTTATAACGAAATC	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											158	153	154					7																	37780789		2203	4300	6503	37747314	SO:0001583	missense	353345			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.794A>G	7.37:g.37780789A>G	ENSP00000390410:p.Tyr265Cys		37747314	A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806083	0.50421	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.38560	1.13;1.13	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.227139	0.36932	N	0.002340	T	0.58637	0.2136	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.57991	-0.7715	10	0.40728	T	0.16	-24.8984	9.8243	0.40903	0.8467:0.0:0.0:0.1533	.	265	Q7Z602	GP141_HUMAN	C	265	ENSP00000390410:Y265C;ENSP00000334540:Y265C	ENSP00000334540:Y265C	Y	+	2	0	GPR141	37747314	0.997000	0.39634	0.998000	0.56505	0.755000	0.42902	6.306000	0.72810	2.324000	0.78689	0.533000	0.62120	TAT		0.393	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		G	37780789	A	G	37780789	3	3	314	1	0	0	0	0	1	0	0	0	6649	449	16	4	796	4	GPR141	7	37780789	Missense_Mutation	SNP	A	TCGA-25-2398-01A-01W-0799-08		37780789	121357874	7	16786											
MAGI2	9863	broad.mit.edu	37	7	77885616	77885616	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr7:77885616C>T	ENST00000354212.4	-	10	1944	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	MAGI2_ENST00000522391.1_Missense_Mutation_p.R564Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R564Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.R401Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R396Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	564					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.R564Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGAGGCGGCCGATCTGTTAT	0.502																																																1	Substitution - Missense(1)	ovary(1)	7											114	95	102					7																	77885616		2203	4300	6503	77723552	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1691G>A	7.37:g.77885616C>T	ENSP00000346151:p.Arg564Gln		77723552	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523655	0.44866	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.10099	3.03;3.03;2.91;3.88;3.88	5.94	5.94	0.96194	.	0.000000	0.33217	U	0.005150	T	0.14313	0.0346	N	0.19112	0.55	0.58432	D	0.999992	D;B;B;B;B;D	0.71674	0.997;0.101;0.071;0.071;0.105;0.998	P;B;B;B;B;P	0.54590	0.756;0.1;0.004;0.006;0.019;0.703	T	0.14559	-1.0468	10	0.10636	T	0.68	.	19.3473	0.94370	0.0:1.0:0.0:0.0	.	401;396;564;564;564;564	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	Q	564;564;564;564;396;401	ENSP00000405766:R564Q;ENSP00000346151:R564Q;ENSP00000428389:R564Q;ENSP00000441584:R396Q;ENSP00000441603:R401Q	ENSP00000346151:R564Q	R	-	2	0	MAGI2	77723552	0.987000	0.35691	1.000000	0.80357	0.990000	0.78478	2.625000	0.46452	2.816000	0.96949	0.561000	0.74099	CGG		0.502	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	77885616	C	T	77885616	3	4	314	1	0	0	0	0	1	0	0	0	9191	652	23	1	2728	1	MAGI2	7	77885616	Missense_Mutation	SNP	C	TCGA-25-2398-01A-01W-0799-08	40104827	77885616	81253047	8	16787											
TRPV5	56302	broad.mit.edu	37	7	142625188	142625188	+	Silent	SNP	G	G	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr7:142625188G>T	ENST00000265310.1	-	7	1252	c.904C>A	c.(904-906)Cga>Aga	p.R302R	TRPV5_ENST00000442623.1_Silent_p.R302R	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	302					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R302R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATACCTCTCGTTTATCAGAG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	7											109	92	98					7																	142625188		2203	4300	6503	142335310	SO:0001819	synonymous_variant	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.904C>A	7.37:g.142625188G>T			142335310	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	CCDS5875.1																																																																																				0.527	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		T	142625188	G	T	142625188	2	4	314	1	0	0	0	0	0	0	0	1	16599	1153	40	3		3	TRPV5	7	142625188	Silent	SNP	G	TCGA-25-2398-01A-01W-0799-08	64739572	142625188	16513475	9	16788											
ZNF212	7988	broad.mit.edu	37	7	148951470	148951470	+	Silent	SNP	G	G	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr7:148951470G>A	ENST00000335870.2	+	5	1580	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.L484L(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGGGTGGGCTGGCCCTGGAGC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	7											32	36	35					7																	148951470		2203	4300	6503	148582403	SO:0001819	synonymous_variant	7988			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.1452G>A	7.37:g.148951470G>A			148582403	B2RCF4|Q13396|Q8N664	Silent	SNP	ENST00000335870.2	37	CCDS5896.1																																																																																				0.652	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		A	148951470	G	A	148951470	2	1	314	1	0	0	0	0	0	0	0	1	17768	1335	47	2		2	ZNF212	7	148951470	Silent	SNP	G	TCGA-25-2398-01A-01W-0799-08	6326282	148951470	10187193	10	16789											
PFKP	5214	broad.mit.edu	37	10	3174604	3174604	+	Missense_Mutation	SNP	G	G	C	rs377741118		TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr10:3174604G>C	ENST00000381125.4	+	18	1957	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	PFKP_ENST00000381075.2_Missense_Mutation_p.K619N|PFKP_ENST00000381072.1_Missense_Mutation_p.K45N	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	627	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.K627N(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGAAAATGAAGACCACCATCC	0.493																																																1	Substitution - Missense(1)	ovary(1)	10											131	130	130					10																	3174604		2203	4300	6503	3164604	SO:0001583	missense	5214			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1881G>C	10.37:g.3174604G>C	ENSP00000370517:p.Lys627Asn		3164604	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.914291	0.92178	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.80566	-1.39;-1.39;-1.39	5.19	5.19	0.71726	Phosphofructokinase domain (2);	0.098655	0.64402	D	0.000002	D	0.89525	0.6740	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.989;0.989;1.0	D	0.90345	0.4362	10	0.59425	D	0.04	.	16.2224	0.82265	0.0:0.0:1.0:0.0	.	619;619;627	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	N	627;616;619;45	ENSP00000370517:K627N;ENSP00000370465:K619N;ENSP00000370462:K45N	ENSP00000370462:K45N	K	+	3	2	PFKP	3164604	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.007000	0.40883	2.422000	0.82143	0.655000	0.94253	AAG		0.493	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		C	3174604	G	C	3174604	3	2	314	1	0	0	0	0	1	0	0	0	11766	933	33	3	1951	3	PFKP	10	3174604	Missense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08		3174604	132360143	11	16790											
PSD	5662	broad.mit.edu	37	10	104176300	104176300	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr10:104176300C>T	ENST00000020673.5	-	2	1022	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	PSD_ENST00000406432.1_Missense_Mutation_p.A166T|PSD_ENST00000492902.2_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	166	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.A166T(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCAGGTAGGGCCGAGCCTCCT	0.667																																																1	Substitution - Missense(1)	ovary(1)	10											20	23	22					10																	104176300		2202	4298	6500	104166290	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.496G>A	10.37:g.104176300C>T	ENSP00000020673:p.Ala166Thr		104166290	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	5.980	0.364821	0.11296	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.19806	2.12;2.12	4.74	1.92	0.25849	.	0.569721	0.15821	N	0.243002	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39820	-0.9595	10	0.12430	T	0.62	.	7.7667	0.28984	0.0:0.7378:0.0:0.2622	.	166	A5PKW4	PSD1_HUMAN	T	166;69;166	ENSP00000020673:A166T;ENSP00000384830:A166T	ENSP00000020673:A166T	A	-	1	0	PSD	104166290	0.004000	0.15560	0.029000	0.17559	0.086000	0.17979	0.892000	0.28322	0.246000	0.21394	-0.254000	0.11334	GCC		0.667	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			T	104176300	C	T	104176300	3	4	314	1	0	0	0	0	1	0	0	0	12649	739	26	2	2642	2	PSD	10	104176300	Missense_Mutation	SNP	C	TCGA-25-2398-01A-01W-0799-08	101001696	104176300	31358447	12	16791											
OR6A2	8590	broad.mit.edu	37	11	6816144	6816144	+	Missense_Mutation	SNP	G	G	A	rs373299055		TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr11:6816144G>A	ENST00000332601.3	-	1	984	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	266					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R266W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCTTTGGCCGAGCATAGATG	0.473																																																1	Substitution - Missense(1)	ovary(1)	11						G	TRP/ARG	0,4402		0,0,2201	108	102	104		796	1.8	1	11		104	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR6A2	NM_003696.2	101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	266/328	6816144	1,12993	2201	4296	6497	6772720	SO:0001583	missense	8590			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.796C>T	11.37:g.6816144G>A	ENSP00000330384:p.Arg266Trp		6772720	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308845	0.60305	0.0	1.16E-4	ENSG00000184933	ENST00000332601	T	0.37915	1.17	4.97	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000092	T	0.57140	0.2033	M	0.76838	2.35	0.31840	N	0.623583	D	0.89917	1.0	D	0.97110	1.0	T	0.65298	-0.6202	10	0.87932	D	0	.	10.7903	0.46429	0.0:0.0:0.4465:0.5535	.	266	O95222	OR6A2_HUMAN	W	266	ENSP00000330384:R266W	ENSP00000330384:R266W	R	-	1	2	OR6A2	6772720	0.000000	0.05858	0.963000	0.40424	0.731000	0.41821	0.153000	0.16323	0.280000	0.22209	0.655000	0.94253	CGG		0.473	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		A	6816144	G	A	6816144	3	1	314	1	0	0	0	0	1	0	0	0	11186	1057	37	1	191	1	OR6A2	11	6816144	Missense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08		6816144	128190372	13	16792											
A2ML1	144568	broad.mit.edu	37	12	8990997	8990997	+	Silent	SNP	G	G	A	rs372520121		TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr12:8990997G>A	ENST00000299698.7	+	9	1101	c.921G>A	c.(919-921)gcG>gcA	p.A307A		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.A307A(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTGGATATGCGTACAGCCATC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	12						G		1,3921		0,1,1960	160	152	155		921	-2.4	0	12		155	0,8302		0,0,4151	no	coding-synonymous	A2ML1	NM_144670.3		0,1,6111	AA,AG,GG		0.0,0.0255,0.0082		307/1455	8990997	1,12223	1961	4151	6112	8882264	SO:0001819	synonymous_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.921G>A	12.37:g.8990997G>A			8882264		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.463	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		A	8990997	G	A	8990997	2	1	314	1	0	0	0	0	0	0	0	1	5	1132	40	1		1	A2ML1	12	8990997	Silent	SNP	G	TCGA-25-2398-01A-01W-0799-08		8990997	124860898	14	16793											
PDE1B	5153	broad.mit.edu	37	12	54970410	54970410	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr12:54970410G>A	ENST00000243052.3	+	14	1868	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	PDE1B_ENST00000550620.1_Missense_Mutation_p.V458M|PDE1B_ENST00000538346.1_Missense_Mutation_p.V437M|PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	478	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.V478M(2)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CAACCCTGATGTGGTCAGCTT	0.582																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	12											79	66	71					12																	54970410		2203	4300	6503	53256677	SO:0001583	missense	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1432G>A	12.37:g.54970410G>A	ENSP00000243052:p.Val478Met		53256677	Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613025	0.46631	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69561	-0.41;-0.4;-0.4	4.86	2.91	0.33838	.	0.000000	0.38897	N	0.001527	T	0.38852	0.1056	N	0.08118	0	0.80722	D	1	B;B	0.16166	0.016;0.004	B;B	0.13407	0.009;0.004	T	0.32052	-0.9921	10	0.35671	T	0.21	.	4.1359	0.10170	0.1921:0.2062:0.6017:0.0	.	458;478	Q01064-2;Q01064	.;PDE1B_HUMAN	M	478;437;458	ENSP00000243052:V478M;ENSP00000442559:V437M;ENSP00000448519:V458M	ENSP00000243052:V478M	V	+	1	0	PDE1B	53256677	0.989000	0.36119	0.997000	0.53966	0.915000	0.54546	2.222000	0.42926	2.403000	0.81681	0.561000	0.74099	GTG		0.582	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			A	54970410	G	A	54970410	3	1	314	1	0	0	0	0	1	0	0	0	11634	1377	48	2	1539	2	PDE1B	12	54970410	Missense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08	45979413	54970410	78881485	15	16794											
TIMELESS	8914	broad.mit.edu	37	12	56817082	56817082	+	Silent	SNP	A	A	G			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr12:56817082A>G	ENST00000553532.1	-	18	2418	c.2268T>C	c.(2266-2268)agT>agC	p.S756S	TIMELESS_ENST00000229201.4_Silent_p.S755S|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.S756S(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAGCAGGGTCACTAAGCAGAC	0.483																																																1	Substitution - coding silent(1)	ovary(1)	12											103	104	104					12																	56817082		2203	4300	6503	55103349	SO:0001819	synonymous_variant	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2268T>C	12.37:g.56817082A>G			55103349		Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																				0.483	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		G	56817082	A	G	56817082	2	3	314	1	0	0	0	0	0	0	0	1	15904	156	6	4		4	TIMELESS	12	56817082	Silent	SNP	A	TCGA-25-2398-01A-01W-0799-08	1846672	56817082	77034813	16	16795											
MTIF3	219402	broad.mit.edu	37	13	28011388	28011388	+	Silent	SNP	C	C	A	rs138161348		TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr13:28011388C>A	ENST00000381116.1	-	6	717	c.483G>T	c.(481-483)ctG>ctT	p.L161L	MTIF3_ENST00000381120.3_Silent_p.L161L|MTIF3_ENST00000431572.2_Silent_p.L161L|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Silent_p.L161L			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	161					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L161L(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		AAGACAAAATCAGTTCCTTTC	0.408																																																1	Substitution - coding silent(1)	ovary(1)	13						C	,,,	1,4405	2.1+/-5.4	0,1,2202	101	92	95		483,483,483,483	-11.7	0	13	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MTIF3	NM_001166261.1,NM_001166262.1,NM_001166263.1,NM_152912.4	,,,	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,,,	161/279,161/279,161/279,161/279	28011388	1,13005	2203	4300	6503	26909388	SO:0001819	synonymous_variant	219402			BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.483G>T	13.37:g.28011388C>A			26909388	Q05BL8|Q5W0V0|Q86X68	Silent	SNP	ENST00000381116.1	37	CCDS9322.1																																																																																				0.408	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		A	28011388	C	A	28011388	2	1	314	1	0	0	0	0	0	0	0	1	9935	813	29	3		3	MTIF3	13	28011388	Silent	SNP	C	TCGA-25-2398-01A-01W-0799-08		28011388	87158490	17	16796											
SYNE2	23224	broad.mit.edu	37	14	64689908	64689908	+	Splice_Site	SNP	A	A	C			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr14:64689908A>C	ENST00000344113.4	+	112	20335	c.20123A>C	c.(20122-20124)cAa>cCa	p.Q6708P	SYNE2_ENST00000554584.1_Splice_Site_p.Q6624P|SYNE2_ENST00000555002.1_Splice_Site_p.Q3365P|SYNE2_ENST00000441438.2_Splice_Site_p.Q253P|SYNE2_ENST00000358025.3_Splice_Site_p.Q6731P|SYNE2_ENST00000555022.1_Splice_Site_p.Q586P|SYNE2_ENST00000458046.2_Splice_Site_p.Q379P|SYNE2_ENST00000554805.1_Splice_Site_p.Q491P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Splice_Site_p.Q3093P|SYNE2_ENST00000394768.2_Splice_Site_p.Q3093P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6708					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q6731P(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTTTCAGCAACTGGAAAAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	14											76	77	77					14																	64689908		2203	4300	6503	63759661	SO:0001630	splice_region_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20122-1A>C	14.37:g.64689908A>C			63759661	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993076	0.35131	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.53	4.35	0.52113	.	0.000000	0.45606	D	0.000344	T	0.58495	0.2126	M	0.81112	2.525	0.80722	D	1	D;D;D;D;P;D;D;D	0.60160	0.978;0.982;0.987;0.987;0.943;0.98;0.969;0.98	P;D;P;P;P;P;P;P	0.64506	0.719;0.926;0.854;0.854;0.71;0.777;0.703;0.804	T	0.62695	-0.6800	10	0.87932	D	0	.	11.6907	0.51514	0.9296:0.0:0.0704:0.0	.	365;3093;253;379;1110;6624;6708;6731	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	P	6731;3093;6708;6624;6630;3365;3093;586;491;379;253	ENSP00000350719:Q6731P;ENSP00000349969:Q3093P;ENSP00000341781:Q6708P;ENSP00000452570:Q6624P;ENSP00000450831:Q3365P;ENSP00000378249:Q3093P;ENSP00000451009:Q586P;ENSP00000450605:Q491P;ENSP00000391937:Q379P;ENSP00000396794:Q253P	ENSP00000261678:Q6630P	Q	+	2	0	SYNE2	63759661	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.851000	0.55926	0.875000	0.35847	0.533000	0.62120	CAA		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Missense_Mutation	C	64689908	A	C	64689908	5	2	314	1	0	0	0	0	0	0	1	0	15446	144	5	5	20680	5	SYNE2	14	64689908	Splice_Site	SNP	A	TCGA-25-2398-01A-01W-0799-08		64689908	42659632	18	16797											
OCA2	4948	broad.mit.edu	37	15	28228549	28228549	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr15:28228549G>C	ENST00000354638.3	-	14	1600	c.1445C>G	c.(1444-1446)aCt>aGt	p.T482S	OCA2_ENST00000382996.2_Missense_Mutation_p.T482S|OCA2_ENST00000353809.5_Missense_Mutation_p.T458S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	482					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.T482S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCCGATGGCAGTGGCAGCTCC	0.483									Oculocutaneous Albinism																																							1	Substitution - Missense(1)	ovary(1)	15											147	120	129					15																	28228549		2203	4300	6503	25902144	SO:0001583	missense	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1445C>G	15.37:g.28228549G>C	ENSP00000346659:p.Thr482Ser		25902144	Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682744	0.88542	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91792	-2.91;-2.91;-2.91	5.33	5.33	0.75918	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.97306	0.9119	H	0.94264	3.515	0.50467	D	0.999874	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.986	D	0.98352	1.0544	10	0.87932	D	0	-18.2996	18.0075	0.89213	0.0:0.0:1.0:0.0	.	458;482	Q04671-2;Q04671	.;P_HUMAN	S	482;458;482	ENSP00000346659:T482S;ENSP00000261276:T458S;ENSP00000372457:T482S	ENSP00000261276:T458S	T	-	2	0	OCA2	25902144	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.987000	0.93497	2.493000	0.84123	0.655000	0.94253	ACT		0.483	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		C	28228549	G	C	28228549	3	2	314	1	0	0	0	0	1	0	0	0	10815	1029	36	3	1115	3	OCA2	15	28228549	Missense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08		28228549	74302843	19	16798											
INO80	54617	broad.mit.edu	37	15	41276060	41276060	+	Silent	SNP	G	G	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr15:41276060G>A	ENST00000361937.3	-	34	4561	c.4137C>T	c.(4135-4137)gaC>gaT	p.D1379D	INO80_ENST00000401393.3_Silent_p.D1379D|INO80_ENST00000561244.1_5'Flank			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1379	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.D1379D(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGACCAGCATGTCACTGCTGC	0.552																																																2	Substitution - coding silent(2)	ovary(2)	15											115	92	99					15																	41276060		2203	4300	6503	39063352	SO:0001819	synonymous_variant	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4137C>T	15.37:g.41276060G>A			39063352	A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	CCDS10071.1																																																																																				0.552	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		A	41276060	G	A	41276060	2	1	314	1	0	0	0	0	0	0	0	1	7746	1368	48	2		2	INO80	15	41276060	Silent	SNP	G	TCGA-25-2398-01A-01W-0799-08	13047511	41276060	61255332	20	16799											
MGRN1	23295	broad.mit.edu	37	16	4718285	4718285	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr16:4718285C>T	ENST00000399577.5	+	8	791	c.698C>T	c.(697-699)tCt>tTt	p.S233F	MGRN1_ENST00000415496.1_Missense_Mutation_p.S234F|MGRN1_ENST00000588994.1_Missense_Mutation_p.S233F|MGRN1_ENST00000262370.7_Missense_Mutation_p.S233F|MGRN1_ENST00000586183.1_Missense_Mutation_p.S233F	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	233					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S233F(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GGCAGCTTCTCTGTGAAGCCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	16											89	89	89					16																	4718285		1947	4150	6097	4658286	SO:0001583	missense	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.698C>T	16.37:g.4718285C>T	ENSP00000382487:p.Ser233Phe		4658286	A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028957	0.75504	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.993;0.999;0.997;0.999	D;D;P;D;D;D	0.97110	1.0;0.991;0.904;0.979;0.964;0.999	T	0.46205	-0.9208	10	0.52906	T	0.07	-25.6343	16.5603	0.84551	0.0:1.0:0.0:0.0	.	233;233;233;234;233;233	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	F	233;233;234;233	ENSP00000262370:S233F;ENSP00000382487:S233F;ENSP00000393311:S234F;ENSP00000443810:S233F	ENSP00000262370:S233F	S	+	2	0	MGRN1	4658286	0.817000	0.29147	0.946000	0.38457	0.965000	0.64279	1.653000	0.37323	2.684000	0.91462	0.650000	0.86243	TCT		0.498	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			T	4718285	C	T	4718285	3	4	314	1	0	0	0	0	1	0	0	0	9559	913	32	2	731	2	MGRN1	16	4718285	Missense_Mutation	SNP	C	TCGA-25-2398-01A-01W-0799-08		4718285	85636468	21	16800											
IL21R	50615	broad.mit.edu	37	16	27460252	27460252	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr16:27460252G>A	ENST00000337929.3	+	9	1738	c.1265G>A	c.(1264-1266)gGg>gAg	p.G422E	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.G422E|IL21R_ENST00000395755.1_Missense_Mutation_p.G422E|IL21R_ENST00000564089.1_Missense_Mutation_p.G422E	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	422					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.G422E(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TTGGATGCAGGGACCACAGTC	0.647			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	1	Substitution - Missense(1)	ovary(1)	16											45	50	48					16																	27460252		2197	4300	6497	27367753	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1265G>A	16.37:g.27460252G>A	ENSP00000338010:p.Gly422Glu		27367753	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	6.898	0.535210	0.13188	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.33216	1.42;1.42;1.42	5.0	-3.58	0.04597	.	1.139300	0.06325	N	0.705119	T	0.15955	0.0384	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27806	-1.0063	10	0.12766	T	0.61	-6.5059	0.8974	0.01266	0.3474:0.3039:0.1956:0.1531	.	422	Q9HBE5	IL21R_HUMAN	E	422	ENSP00000338010:G422E;ENSP00000379104:G422E;ENSP00000379103:G422E	ENSP00000338010:G422E	G	+	2	0	IL21R	27367753	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.326000	0.07965	-0.444000	0.07170	0.561000	0.74099	GGG		0.647	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		A	27460252	G	A	27460252	3	1	314	1	0	0	0	0	1	0	0	0	7671	1232	43	2	1295	2	IL21R	16	27460252	Missense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08	22741967	27460252	62894501	22	16801											
GPR142	350383	broad.mit.edu	37	17	72363841	72363841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr17:72363841G>A	ENST00000335666.4	+	1	245	c.197G>A	c.(196-198)tGg>tAg	p.W66*		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	66						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W66*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGGGGAAGCTGGGACCTCCGA	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	17											71	64	66					17																	72363841		2203	4300	6503	69875436	SO:0001587	stop_gained	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.197G>A	17.37:g.72363841G>A	ENSP00000335158:p.Trp66*		69875436	A4CYJ8|Q86SL3	Nonsense_Mutation	SNP	ENST00000335666.4	37	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360129	0.61403	.	.	ENSG00000257008	ENST00000335666	.	.	.	2.41	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8334	0.23923	0.1556:0.0:0.8444:0.0	.	.	.	.	X	66	.	ENSP00000335158:W66X	W	+	2	0	GPR142	69875436	1.000000	0.71417	0.002000	0.10522	0.011000	0.07611	5.093000	0.64517	0.340000	0.23745	0.558000	0.71614	TGG		0.552	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		A	72363841	G	A	72363841	4	1	314	1	0	0	0	0	0	1	0	0	6650	1357	47	2	199	2	GPR142	17	72363841	Nonsense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08		72363841	8831369	23	16802											
CETN1	1068	broad.mit.edu	37	18	580898	580898	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr18:580898C>T	ENST00000327228.3	+	1	532	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	164	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.R164W(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGAGTTCCTTCGGATCATGAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	18											70	69	69					18																	580898		2203	4296	6499	570898	SO:0001583	missense	1068			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.490C>T	18.37:g.580898C>T	ENSP00000319052:p.Arg164Trp		570898	B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637164	0.47049	.	.	ENSG00000177143	ENST00000327228	T	0.79352	-1.26	5.2	3.25	0.37280	EF-hand-like domain (1);	0.089351	0.49916	D	0.000137	T	0.79661	0.4484	M	0.87827	2.91	0.51482	D	0.999922	B	0.32968	0.392	B	0.33121	0.158	T	0.80074	-0.1534	10	0.87932	D	0	.	12.0149	0.53309	0.3944:0.6055:0.0:0.0	.	164	Q12798	CETN1_HUMAN	W	164	ENSP00000319052:R164W	ENSP00000319052:R164W	R	+	1	2	CETN1	570898	0.831000	0.29352	0.018000	0.16275	0.893000	0.52053	1.625000	0.37029	0.733000	0.32492	0.655000	0.94253	CGG		0.537	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		T	580898	C	T	580898	3	4	314	1	0	0	0	0	1	0	0	0	3274	875	31	1	492	1	CETN1	18	580898	Missense_Mutation	SNP	C	TCGA-25-2398-01A-01W-0799-08		580898	77496350	24	16803											
ALPK2	115701	broad.mit.edu	37	18	56203552	56203552	+	Silent	SNP	G	G	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr18:56203552G>A	ENST00000361673.3	-	5	4080	c.3867C>T	c.(3865-3867)gcC>gcT	p.A1289A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1289						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A1289A(1)|p.A650A(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTCAGAGGGGGCCAATTCAG	0.512																																																2	Substitution - coding silent(2)	ovary(2)	18											126	116	120					18																	56203552		2203	4300	6503	54354532	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3867C>T	18.37:g.56203552G>A			54354532	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.512	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		A	56203552	G	A	56203552	2	1	314	1	0	0	0	0	0	0	0	1	545	1219	43	2		2	ALPK2	18	56203552	Silent	SNP	G	TCGA-25-2398-01A-01W-0799-08	55622654	56203552	21873696	25	16804											
FBXO15	201456	broad.mit.edu	37	18	71740792	71740792	+	Silent	SNP	C	C	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr18:71740792C>A	ENST00000419743.2	-	10	1516	c.1437G>T	c.(1435-1437)ctG>ctT	p.L479L	FBXO15_ENST00000269500.5_Silent_p.L403L|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	479						SCF ubiquitin ligase complex (GO:0019005)		p.L403L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGATCCACACCAGCTCCACGT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	18											261	248	252					18																	71740792		2203	4300	6503	69891772	SO:0001819	synonymous_variant	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1437G>T	18.37:g.71740792C>A			69891772	B3KST3	Silent	SNP	ENST00000419743.2	37	CCDS45884.1																																																																																				0.483	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		A	71740792	C	A	71740792	2	1	314	1	0	0	0	0	0	0	0	1	5728	581	21	3		3	FBXO15	18	71740792	Silent	SNP	C	TCGA-25-2398-01A-01W-0799-08	15537240	71740792	6336456	26	16805											
TUBB4	10382	broad.mit.edu	37	19	6495297	6495297	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr19:6495297C>T	ENST00000264071.2	-	4	1584	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	TUBB4A_ENST00000540257.1_Missense_Mutation_p.E405K|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	405					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E405K(1)									AACTCCATCTCGTCCATGCCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											139	124	129					19																	6495297		2203	4298	6501	6446297	SO:0001583	missense	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1213G>A	19.37:g.6495297C>T	ENSP00000264071:p.Glu405Lys		6446297	B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404082	0.62288	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.73681	-0.77;-0.77	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000002	D	0.85106	0.5621	H	0.99074	4.42	0.53688	D	0.999974	P	0.52842	0.956	B	0.42625	0.393	D	0.91054	0.4880	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	405	P04350	TBB4A_HUMAN	K	405;405;323	ENSP00000264071:E405K;ENSP00000443590:E405K	ENSP00000264071:E405K	E	-	1	0	TUBB4	6446297	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.681000	0.84073	1.473000	0.48159	0.306000	0.20318	GAG		0.612	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		T	6495297	C	T	6495297	3	4	314	1	0	0	0	0	1	0	0	0	16758	893	31	1	125	1	TUBB4	19	6495297	Missense_Mutation	SNP	C	TCGA-25-2398-01A-01W-0799-08		6495297	52633686	27	16806											
TRMT1	55621	broad.mit.edu	37	19	13220216	13220216	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr19:13220216G>A	ENST00000592062.1	-	13	1946	c.1376C>T	c.(1375-1377)aCa>aTa	p.T459I	TRMT1_ENST00000221504.8_Missense_Mutation_p.T430I|TRMT1_ENST00000357720.4_Missense_Mutation_p.T459I|TRMT1_ENST00000437766.1_Missense_Mutation_p.T459I			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	459	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.T459I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GAGGCTTGGTGTGTTGCAGTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											102	97	98					19																	13220216		2203	4300	6503	13081216	SO:0001583	missense	55621			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1376C>T	19.37:g.13220216G>A	ENSP00000466967:p.Thr459Ile		13081216	O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008932	0.35415	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.66939	2.045	0.58432	D	0.999994	B;B	0.33777	0.026;0.425	B;B	0.36378	0.041;0.223	T	0.62751	-0.6788	9	0.33141	T	0.24	-17.5447	15.2722	0.73712	0.0:0.0:1.0:0.0	.	430;459	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	I	459;459;430	.	ENSP00000221504:T430I	T	-	2	0	TRMT1	13081216	1.000000	0.71417	0.937000	0.37676	0.436000	0.31835	5.846000	0.69444	2.199000	0.70637	0.462000	0.41574	ACA		0.622	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		A	13220216	G	A	13220216	3	1	314	1	0	0	0	0	1	0	0	0	16561	1377	48	2	627	2	TRMT1	19	13220216	Missense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08	6724919	13220216	45908767	28	16807											
ARHGAP35	2909	broad.mit.edu	37	19	47423688	47423688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr19:47423688C>T	ENST00000404338.3	+	1	1756	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	586					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.Q586*(1)									TGACCGGAATCAGAAAAATTC	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	19											105	104	104					19																	47423688		1901	4120	6021	52115528	SO:0001587	stop_gained	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1756C>T	19.37:g.47423688C>T	ENSP00000385720:p.Gln586*		52115528	A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	37	6.533927	0.97641	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.95	5.95	0.96441	.	0.358447	0.33110	N	0.005263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-33.0817	19.1646	0.93551	0.0:1.0:0.0:0.0	.	.	.	.	X	586	.	ENSP00000324820:Q586X	Q	+	1	0	ARHGAP35	52115528	0.965000	0.33210	1.000000	0.80357	0.995000	0.86356	2.170000	0.42443	2.824000	0.97209	0.655000	0.94253	CAG		0.493	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		T	47423688	C	T	47423688	4	4	314	1	0	0	0	0	0	1	0	0	6795	827	29	2	1758	2	ARHGAP35	19	47423688	Nonsense_Mutation	SNP	C	TCGA-25-2398-01A-01W-0799-08	34203472	47423688	11705295	29	16808											
ZNF611	81856	broad.mit.edu	37	19	53208487	53208487	+	Silent	SNP	T	T	A			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr19:53208487T>A	ENST00000319783.1	-	7	2137	c.1821A>T	c.(1819-1821)tcA>tcT	p.S607S	ZNF611_ENST00000543227.1_Silent_p.S607S|ZNF611_ENST00000540744.1_Silent_p.S607S|ZNF611_ENST00000595798.1_Silent_p.S538S|ZNF611_ENST00000602162.1_Silent_p.S538S|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000453741.2_Silent_p.S538S	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	607					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.S607S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATGAAGGGATGACCTGCGAC	0.448																																																1	Substitution - coding silent(1)	ovary(1)	19											249	227	235					19																	53208487		2203	4300	6503	57900299	SO:0001819	synonymous_variant	81856			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1821A>T	19.37:g.53208487T>A			57900299	B3KRD5|Q69YG9	Silent	SNP	ENST00000319783.1	37	CCDS12855.1																																																																																				0.448	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		A	53208487	T	A	53208487	2	1	314	1	0	0	0	0	0	0	0	1	18037	1451	51	5		5	ZNF611	19	53208487	Silent	SNP	T	TCGA-25-2398-01A-01W-0799-08	5784799	53208487	5920496	30	16809											
ZNF776	284309	broad.mit.edu	37	19	58265193	58265193	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr19:58265193G>C	ENST00000317178.5	+	3	958	c.695G>C	c.(694-696)aGa>aCa	p.R232T		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R190T(1)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CTTCTCCCTAGAGAAGGACCT	0.413																																																1	Substitution - Missense(1)	ovary(1)	19											78	79	79					19																	58265193		2203	4300	6503	62957005	SO:0001583	missense	284309			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.695G>C	19.37:g.58265193G>C	ENSP00000321812:p.Arg232Thr		62957005	Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	G	5.530	0.282654	0.10458	.	.	ENSG00000152443	ENST00000317178	T	0.60424	0.19	1.67	0.537	0.17144	.	.	.	.	.	T	0.46908	0.1417	L	0.58810	1.83	0.23016	N	0.998428	P;P	0.44195	0.801;0.828	B;B	0.36289	0.134;0.221	T	0.38735	-0.9647	9	0.87932	D	0	.	6.6452	0.22931	0.1698:0.0:0.8302:0.0	.	232;232	Q68DI1;B4DSC6	ZN776_HUMAN;.	T	232	ENSP00000321812:R232T	ENSP00000321812:R232T	R	+	2	0	ZNF776	62957005	0.000000	0.05858	0.002000	0.10522	0.114000	0.19823	-0.083000	0.11286	0.043000	0.15746	0.305000	0.20034	AGA		0.413	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		C	58265193	G	C	58265193	3	2	314	1	0	0	0	0	1	0	0	0	18149	942	33	3	705	3	ZNF776	19	58265193	Missense_Mutation	SNP	G	TCGA-25-2398-01A-01W-0799-08	5056706	58265193	863790	31	16810											
ZNF217	7764	broad.mit.edu	37	20	52192307	52192307	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr20:52192307C>G	ENST00000371471.2	-	4	3421	c.2996G>C	c.(2995-2997)tGt>tCt	p.C999S	ZNF217_ENST00000302342.3_Missense_Mutation_p.C999S|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	999					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.C999S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGCAGGCACACAAGTGTAAAG	0.522																																																1	Substitution - Missense(1)	ovary(1)	20											61	58	59					20																	52192307		2203	4300	6503	51625714	SO:0001583	missense	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2996G>C	20.37:g.52192307C>G	ENSP00000360526:p.Cys999Ser		51625714	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302726	0.60195	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.11495	2.77;2.77	4.79	4.79	0.61399	.	0.463445	0.23003	N	0.053056	T	0.26702	0.0653	L	0.59436	1.845	0.19575	N	0.999961	D	0.71674	0.998	P	0.60682	0.878	T	0.02758	-1.1114	10	0.72032	D	0.01	-8.6365	15.6137	0.76748	0.0:1.0:0.0:0.0	.	999	O75362	ZN217_HUMAN	S	999;999;87;159	ENSP00000360526:C999S;ENSP00000304308:C999S	ENSP00000304308:C999S	C	-	2	0	ZNF217	51625714	0.942000	0.31987	0.008000	0.14137	0.003000	0.03518	2.890000	0.48609	2.208000	0.71279	0.650000	0.86243	TGT		0.522	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		G	52192307	C	G	52192307	3	3	314	1	0	0	0	0	1	0	0	0	17772	478	17	3	158	3	ZNF217	20	52192307	Missense_Mutation	SNP	C	TCGA-25-2398-01A-01W-0799-08		52192307	10833213	32	16811											
KREMEN1	83999	broad.mit.edu	37	22	29537934	29537934	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr22:29537934C>T	ENST00000407188.1	+	9	1256	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	KREMEN1_ENST00000400335.4_Missense_Mutation_p.S404F|KREMEN1_ENST00000400338.2_Missense_Mutation_p.S421F|KREMEN1_ENST00000327813.5_Missense_Mutation_p.S421F			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	419					cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S421F(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CTTGACAGATCCCATCGTGTT	0.443																																																1	Substitution - Missense(1)	ovary(1)	22											64	63	63					22																	29537934		1864	4102	5966	27867934	SO:0001583	missense	83999			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.1256C>T	22.37:g.29537934C>T	ENSP00000385431:p.Ser419Phe		27867934	B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067780	0.76301	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.66280	-0.15;-0.19;-0.2;-0.19	5.06	5.06	0.68205	.	0.099662	0.43747	D	0.000539	T	0.65471	0.2694	L	0.29908	0.895	0.80722	D	1	P;D;P	0.57257	0.769;0.979;0.828	P;P;P	0.58454	0.507;0.839;0.555	T	0.68588	-0.5369	10	0.87932	D	0	.	14.6712	0.68945	0.0:1.0:0.0:0.0	.	419;421;404	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	F	404;421;421;419	ENSP00000383189:S404F;ENSP00000383192:S421F;ENSP00000331242:S421F;ENSP00000385431:S419F	ENSP00000331242:S421F	S	+	2	0	KREMEN1	27867934	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.055000	0.49916	2.733000	0.93635	0.655000	0.94253	TCC		0.443	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			T	29537934	C	T	29537934	3	4	314	1	0	0	0	0	1	0	0	0	8442	855	30	2	1296	2	KREMEN1	22	29537934	Missense_Mutation	SNP	C	TCGA-25-2398-01A-01W-0799-08		29537934	21766632	33	16812											
PIK3IP1	113791	broad.mit.edu	37	22	31679151	31679151	+	Silent	SNP	C	C	G			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chr22:31679151C>G	ENST00000215912.5	-	6	894	c.711G>C	c.(709-711)gtG>gtC	p.V237V	PIK3IP1_ENST00000441972.1_3'UTR|PIK3IP1_ENST00000487265.2_Silent_p.V158V	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	237					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)	p.V237V(1)		large_intestine(2)|lung(1)|ovary(1)	4						TGGTGTGGACCACGACAGTCT	0.602																																																1	Substitution - coding silent(1)	ovary(1)	22											98	70	79					22																	31679151		2203	4300	6503	30009151	SO:0001819	synonymous_variant	113791			BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.711G>C	22.37:g.31679151C>G			30009151	B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Silent	SNP	ENST00000215912.5	37	CCDS13893.1																																																																																				0.602	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321939.1	NM_052880		G	31679151	C	G	31679151	2	3	314	1	0	0	0	0	0	0	0	1	11917	581	21	3		3	PIK3IP1	22	31679151	Silent	SNP	C	TCGA-25-2398-01A-01W-0799-08	2141217	31679151	19625415	34	16813											
ARMCX2	9823	broad.mit.edu	37	X	100912140	100912140	+	Silent	SNP	C	C	T			TCGA-25-2398-01A-01W-0799-08	TCGA-25-2398-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b4b3281b-5dfc-434d-a9a6-2c2d94123220	ba4008d0-ef83-4cba-af98-742284b48779	g.chrX:100912140C>T	ENST00000328766.5	-	5	888	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.V145V|ARMCX2_ENST00000356824.4_Silent_p.V145V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	145	Ala-rich.					integral component of membrane (GO:0016021)		p.V145V(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GGGCCTCTGTCACCCCGGGAG	0.637																																																1	Substitution - coding silent(1)	ovary(1)	X											33	35	35					X																	100912140		2203	4297	6500	100798796	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.435G>A	X.37:g.100912140C>T			100798796	O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	CCDS14490.1																																																																																				0.637	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		T	100912140	C	T	100912140	2	4	314	1	0	0	0	0	0	0	0	1	960	813	29	2		2	ARMCX2	23	100912140	Silent	SNP	C	TCGA-25-2398-01A-01W-0799-08		100912140	54358420	35	16814											
THRAP3	9967	broad.mit.edu	37	1	36755052	36755052	+	Missense_Mutation	SNP	C	C	A	rs200997715		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr1:36755052C>A	ENST00000354618.5	+	5	1656	c.1432C>A	c.(1432-1434)Cct>Act	p.P478T	THRAP3_ENST00000469141.2_Missense_Mutation_p.P478T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	478	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P478T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTATATGCACCTCCAGGGAA	0.478			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	ovary(1)	1											67	75	72					1																	36755052		2203	4300	6503	36527639	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1432C>A	1.37:g.36755052C>A	ENSP00000346634:p.Pro478Thr		36527639	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267044	0.40095	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.10005	2.92;2.92	5.0	4.09	0.47781	.	0.150816	0.46758	D	0.000272	T	0.14830	0.0358	L	0.47716	1.5	0.25193	N	0.990116	P	0.50272	0.933	P	0.49829	0.623	T	0.08785	-1.0705	10	0.21540	T	0.41	-4.6916	12.2027	0.54335	0.0:0.9177:0.0:0.0823	.	478	Q9Y2W1	TR150_HUMAN	T	478	ENSP00000346634:P478T;ENSP00000433825:P478T	ENSP00000346634:P478T	P	+	1	0	THRAP3	36527639	1.000000	0.71417	0.402000	0.26371	0.978000	0.69477	2.338000	0.43957	1.110000	0.41699	0.655000	0.94253	CCT		0.478	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		A	36755052	C	A	36755052	3	1	315	1	0	0	0	0	1	0	0	0	15874	507	18	3	1442	3	THRAP3	1	36755052	Missense_Mutation	SNP	C	TCGA-25-2399-01A-01W-0799-08		36755052	212495569	1	16815											
KCNA10	3744	broad.mit.edu	37	1	111061276	111061276	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr1:111061276G>A	ENST00000369771.2	-	1	521	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	45					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.S45F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GTTGGAGAAGGAGCTGCCCCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											57	62	61					1																	111061276		2203	4300	6503	110862799	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.134C>T	1.37:g.111061276G>A	ENSP00000358786:p.Ser45Phe		110862799		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889532	0.33348	.	.	ENSG00000143105	ENST00000369771	D	0.96856	-4.15	5.57	3.21	0.36854	.	.	.	.	.	D	0.87148	0.6105	L	0.38175	1.15	0.24435	N	0.994559	B	0.02656	0.0	B	0.01281	0.0	T	0.77854	-0.2433	9	0.59425	D	0.04	.	3.1549	0.06500	0.1668:0.0:0.57:0.2632	.	45	Q16322	KCA10_HUMAN	F	45	ENSP00000358786:S45F	ENSP00000358786:S45F	S	-	2	0	KCNA10	110862799	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.186000	0.50942	2.609000	0.88269	0.655000	0.94253	TCC		0.562	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		A	111061276	G	A	111061276	3	1	315	1	0	0	0	0	1	0	0	0	8002	1174	41	2	1405	2	KCNA10	1	111061276	Missense_Mutation	SNP	G	TCGA-25-2399-01A-01W-0799-08	74306224	111061276	138189345	2	16816											
GON4L	54856	broad.mit.edu	37	1	155726770	155726770	+	Silent	SNP	G	G	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr1:155726770G>A	ENST00000368331.1	-	27	5544	c.5496C>T	c.(5494-5496)atC>atT	p.I1832I	GON4L_ENST00000437809.1_Silent_p.I1832I|GON4L_ENST00000271883.5_Silent_p.I1832I	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1832					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I1832I(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTGGACCCCGATCTCTTTTT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	1											114	110	111					1																	155726770		1861	4093	5954	153993394	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5496C>T	1.37:g.155726770G>A			153993394	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																					0.438	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		A	155726770	G	A	155726770	2	1	315	1	0	0	0	0	0	0	0	1	6572	1048	37	1		1	GON4L	1	155726770	Silent	SNP	G	TCGA-25-2399-01A-01W-0799-08	44665494	155726770	93523851	3	16817											
FMN2	56776	broad.mit.edu	37	1	240351518	240351518	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr1:240351518G>C	ENST00000319653.9	+	4	2172	c.1942G>C	c.(1942-1944)Gct>Cct	p.A648P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	648					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A791P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATCTCAATCTGCTGTTTCAGA	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											153	145	148					1																	240351518		2203	4300	6503	238418141	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1942G>C	1.37:g.240351518G>C	ENSP00000318884:p.Ala648Pro		238418141	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	7.912	0.736698	0.15574	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	D;D	0.81821	-1.54;-1.54	4.64	2.7	0.31948	.	0.637618	0.14614	N	0.308852	T	0.72137	0.3423	L	0.59436	1.845	0.80722	D	1	P	0.45348	0.856	B	0.38803	0.282	T	0.71527	-0.4566	10	0.54805	T	0.06	.	4.8733	0.13644	0.1088:0.0:0.6685:0.2227	.	648	Q9NZ56	FMN2_HUMAN	P	85;648	ENSP00000409308:A85P;ENSP00000318884:A648P	ENSP00000318884:A648P	A	+	1	0	FMN2	238418141	1.000000	0.71417	0.999000	0.59377	0.491000	0.33493	1.013000	0.29937	1.241000	0.43820	0.561000	0.74099	GCT		0.343	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		C	240351518	G	C	240351518	3	2	315	1	0	0	0	0	1	0	0	0	5950	1319	46	3	1956	3	FMN2	1	240351518	Missense_Mutation	SNP	G	TCGA-25-2399-01A-01W-0799-08	84624748	240351518	8899103	4	16818											
PXDN	7837	broad.mit.edu	37	2	1670193	1670193	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr2:1670193C>G	ENST00000252804.4	-	10	1134	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	362	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCGCTGCACTCCAGCGTGACG	0.567																																																0			2											26	30	29					2																	1670193		2033	4174	6207	1649200	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1084G>C	2.37:g.1670193C>G	ENSP00000252804:p.Glu362Gln		1649200	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.912524|4.912524	0.92178|0.92178	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.68181|.	-0.31|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.055329|.	0.64402|.	D|.	0.000001|.	T|T	0.51924|0.51924	0.1703|0.1703	N|N	0.20445|0.20445	0.575|0.575	0.51767|0.51767	D|D	0.999935|0.999935	P;D|.	0.67145|.	0.861;0.996|.	P;D|.	0.70016|.	0.73;0.967|.	T|T	0.48210|0.48210	-0.9055|-0.9055	10|5	0.54805|.	T|.	0.06|.	-42.7642|-42.7642	16.6763|16.6763	0.85280|0.85280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	362;362|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	Q|C	362|357	ENSP00000252804:E362Q|.	ENSP00000252804:E362Q|.	E|W	-|-	1|3	0|0	PXDN|PXDN	1649200|1649200	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.905000|0.905000	0.53344|0.53344	7.744000|7.744000	0.85034|0.85034	2.369000|2.369000	0.80426|0.80426	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		G	1670193	C	G	1670193	3	3	315	1	0	0	0	0	1	0	0	0	12850	864	30	3	3411	3	PXDN	2	1670193	Missense_Mutation	SNP	C	TCGA-25-2399-01A-01W-0799-08		1670193	241529180	5	16819											
TTN	7273	broad.mit.edu	37	2	179442380	179442380	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr2:179442380T>C	ENST00000591111.1	-	273	64074	c.63850A>G	c.(63850-63852)Atc>Gtc	p.I21284V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13985V|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I14052V|TTN_ENST00000589042.1_Missense_Mutation_p.I22925V|TTN_ENST00000342992.6_Missense_Mutation_p.I20357V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I13860V|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21284	Fibronectin type-III 54. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I20355V(1)|p.I13860V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGCACTGATAGCACCTGCT	0.353																																																2	Substitution - Missense(2)	ovary(2)	2											132	118	123					2																	179442380		1889	4123	6012	179150626	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63850A>G	2.37:g.179442380T>C	ENSP00000465570:p.Ile21284Val		179150626	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.91	1.778567	0.31502	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44603	0.1301	N	0.25426	0.745	0.50467	D	0.999873	B;B;B;B	0.20550	0.046;0.046;0.046;0.025	B;B;B;B	0.22152	0.038;0.038;0.038;0.026	T	0.36768	-0.9734	9	0.87932	D	0	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	13860;13985;14052;21284	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	20357;13860;14052;13985;13858	ENSP00000343764:I20357V;ENSP00000434586:I13860V;ENSP00000340554:I14052V;ENSP00000352154:I13985V	ENSP00000340554:I14052V	I	-	1	0	TTN	179150626	1.000000	0.71417	0.911000	0.35937	0.983000	0.72400	3.414000	0.52693	2.311000	0.77944	0.533000	0.62120	ATC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179442380	T	C	179442380	3	2	315	1	0	0	0	0	1	0	0	0	16735	1406	49	4	39366	4	TTN	2	179442380	Missense_Mutation	SNP	T	TCGA-25-2399-01A-01W-0799-08	177772187	179442380	63756993	6	16820											
GIGYF2	26058	broad.mit.edu	37	2	233656088	233656088	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr2:233656088C>T	ENST00000409547.1	+	14	1525	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	GIGYF2_ENST00000409196.3_Missense_Mutation_p.T399M|GIGYF2_ENST00000409480.1_Missense_Mutation_p.T427M|GIGYF2_ENST00000452341.2_Missense_Mutation_p.T236M|GIGYF2_ENST00000373563.4_Missense_Mutation_p.T405M|GIGYF2_ENST00000409451.3_Missense_Mutation_p.T426M|GIGYF2_ENST00000373566.3_Missense_Mutation_p.T427M	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	405					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.T405M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACTGAGCAAACGGAAAAAGCT	0.453																																																1	Substitution - Missense(1)	ovary(1)	2											100	96	97					2																	233656088		2203	4300	6503	233364332	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1214C>T	2.37:g.233656088C>T	ENSP00000386537:p.Thr405Met		233364332	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	2.483	-0.319107	0.05386	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.74737	-0.71;-0.71;-0.71;-0.71;-0.87;-0.71;-0.71;-0.85;-0.55	5.54	-2.08	0.07254	.	0.987220	0.08256	N	0.973822	T	0.52468	0.1736	N	0.22421	0.69	0.09310	N	1	B;P;B;P	0.38195	0.274;0.622;0.001;0.513	B;B;B;B	0.29942	0.036;0.109;0.001;0.079	T	0.39941	-0.9589	10	0.44086	T	0.13	0.3086	6.1003	0.20043	0.1271:0.3228:0.0:0.5501	.	236;426;405;399	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	M	427;348;405;427;405;405;348;399;426;399;236	ENSP00000362667:T427M;ENSP00000362664:T405M;ENSP00000386765:T427M;ENSP00000386537:T405M;ENSP00000404195:T348M;ENSP00000387070:T399M;ENSP00000387170:T426M;ENSP00000410297:T399M;ENSP00000411505:T236M	ENSP00000362664:T405M	T	+	2	0	GIGYF2	233364332	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.341000	0.07811	-0.364000	0.08088	-0.783000	0.03347	ACG		0.453	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		T	233656088	C	T	233656088	3	4	315	1	0	0	0	0	1	0	0	0	6378	536	19	1	1322	1	GIGYF2	2	233656088	Missense_Mutation	SNP	C	TCGA-25-2399-01A-01W-0799-08	54213708	233656088	9543285	7	16821											
CACNA1D	776	broad.mit.edu	37	3	53753780	53753780	+	Splice_Site	SNP	A	A	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr3:53753780A>G	ENST00000350061.5	+	11	1989		c.e11-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000288139.4_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.?(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTTTCTTTCAGTCAAGCCAT	0.418																																																1	Unknown(1)	ovary(1)	3											394	362	373					3																	53753780		2203	4300	6503	53728820	SO:0001630	splice_region_variant	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1479-1A>G	3.37:g.53753780A>G			53728820	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378382	0.82682	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481085;ENST00000481478	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2503	0.66016	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53728820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.913000	0.87471	1.966000	0.57179	0.533000	0.62120	.		0.418	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Intron	G	53753780	A	G	53753780	5	3	315	1	0	0	0	0	0	0	1	0	2541	202	7	4	1691	4	CACNA1D	3	53753780	Splice_Site	SNP	A	TCGA-25-2399-01A-01W-0799-08		53753780	144268650	8	16822											
LRRC31	79782	broad.mit.edu	37	3	169578358	169578358	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr3:169578358G>C	ENST00000316428.5	-	3	535	c.478C>G	c.(478-480)Caa>Gaa	p.Q160E	LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000523069.1_Missense_Mutation_p.Q160E|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	160								p.Q160E(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCCAGTGCTTGAACATCGTCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											166	158	161					3																	169578358		2025	4191	6216	171061052	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.478C>G	3.37:g.169578358G>C	ENSP00000325978:p.Gln160Glu		171061052	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.334973	0.00227	.	.	ENSG00000114248	ENST00000316428;ENST00000523069	T;T	0.59224	0.28;0.28	5.24	-1.91	0.07641	.	1.606110	0.03984	N	0.293796	T	0.30885	0.0779	N	0.16266	0.395	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.16660	-1.0395	10	0.05436	T	0.98	9.2294	0.6059	0.00752	0.2503:0.3153:0.1517:0.2828	.	160	Q6UY01	LRC31_HUMAN	E	160	ENSP00000325978:Q160E;ENSP00000429145:Q160E	ENSP00000325978:Q160E	Q	-	1	0	LRRC31	171061052	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.108000	0.10857	-0.042000	0.13535	0.650000	0.86243	CAA		0.507	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		C	169578358	G	C	169578358	3	2	315	1	0	0	0	0	1	0	0	0	8986	1299	45	3	1208	3	LRRC31	3	169578358	Missense_Mutation	SNP	G	TCGA-25-2399-01A-01W-0799-08	115824578	169578358	28444072	9	16823											
KIAA1211	57482	broad.mit.edu	37	4	57181320	57181320	+	Missense_Mutation	SNP	C	C	G	rs555695354		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr4:57181320C>G	ENST00000504228.1	+	6	1757	c.1652C>G	c.(1651-1653)cCc>cGc	p.P551R	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P551R|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P544R			Q6ZU35	K1211_HUMAN	KIAA1211	551								p.P551R(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATTCTCTTTCCCAAAGTCAAC	0.647																																																1	Substitution - Missense(1)	ovary(1)	4											14	21	19					4																	57181320		2017	4160	6177	56876077	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1652C>G	4.37:g.57181320C>G	ENSP00000423366:p.Pro551Arg		56876077	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861805	0.71949	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02032	4.49;4.49;4.49	4.86	4.86	0.63082	.	.	.	.	.	T	0.09423	0.0232	M	0.64997	1.995	0.41201	D	0.986375	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.80764	0.923;0.923;0.994	T	0.02026	-1.1227	9	0.49607	T	0.09	-22.101	11.4251	0.50004	0.3138:0.6862:0.0:0.0	.	544;544;551	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	R	551;551;544;461	ENSP00000264229:P551R;ENSP00000423366:P551R;ENSP00000444006:P544R	ENSP00000264229:P551R	P	+	2	0	KIAA1211	56876077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.295000	0.72744	2.229000	0.72834	0.561000	0.74099	CCC		0.647	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		G	57181320	C	G	57181320	3	3	315	1	0	0	0	0	1	0	0	0	8215	623	22	3	1670	3	KIAA1211	4	57181320	Missense_Mutation	SNP	C	TCGA-25-2399-01A-01W-0799-08		57181320	133972956	10	16824											
ABLIM3	22885	broad.mit.edu	37	5	148596590	148596590	+	Silent	SNP	A	A	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr5:148596590A>T	ENST00000506113.1	+	7	1220	c.738A>T	c.(736-738)ggA>ggT	p.G246G	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Silent_p.G246G|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Silent_p.G246G|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Silent_p.G246G|ABLIM3_ENST00000508983.1_Silent_p.G246G|ABLIM3_ENST00000309868.7_Silent_p.G246G			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	246	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.G246G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGAAGGAGAGGAAATGT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	5											95	79	84					5																	148596590		2203	4300	6503	148576783	SO:0001819	synonymous_variant	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.738A>T	5.37:g.148596590A>T			148576783	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	CCDS4294.1																																																																																				0.498	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		T	148596590	A	T	148596590	2	4	315	1	0	0	0	0	0	0	0	1	96	291	11	5		5	ABLIM3	5	148596590	Silent	SNP	A	TCGA-25-2399-01A-01W-0799-08		148596590	32318670	11	16825											
IGF2R	3482	broad.mit.edu	37	6	160510188	160510188	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr6:160510188G>A	ENST00000356956.1	+	43	6518	c.6370G>A	c.(6370-6372)Gcc>Acc	p.A2124T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2124					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.A2124T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTCCCGGGCTGCCTGCGCCGT	0.522																																																1	Substitution - Missense(1)	ovary(1)	6											65	58	60					6																	160510188		2203	4300	6503	160430178	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6370G>A	6.37:g.160510188G>A	ENSP00000349437:p.Ala2124Thr		160430178	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296516	0.95574	.	.	ENSG00000197081	ENST00000356956	T	0.54866	0.55	5.03	5.03	0.67393	Mannose-6-phosphate receptor, binding (1);	0.113950	0.64402	D	0.000013	T	0.70369	0.3216	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.75354	-0.3347	10	0.72032	D	0.01	-19.1973	16.9221	0.86166	0.0:0.0:1.0:0.0	.	2124	P11717	MPRI_HUMAN	T	2124	ENSP00000349437:A2124T	ENSP00000349437:A2124T	A	+	1	0	IGF2R	160430178	1.000000	0.71417	0.934000	0.37439	0.979000	0.70002	9.023000	0.93683	2.483000	0.83821	0.561000	0.74099	GCC		0.522	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		A	160510188	G	A	160510188	3	1	315	1	0	0	0	0	1	0	0	0	7576	1319	46	2	6540	2	IGF2R	6	160510188	Missense_Mutation	SNP	G	TCGA-25-2399-01A-01W-0799-08		160510188	10604879	12	16826											
ELN	2006	broad.mit.edu	37	7	73469099	73469099	+	Splice_Site	SNP	G	G	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr7:73469099G>A	ENST00000252034.7	+	19	1549	c.1150G>A	c.(1150-1152)Ggg>Agg	p.G384R	ELN_ENST00000380575.4_Splice_Site_p.G374R|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000320492.7_Splice_Site_p.G348R|ELN_ENST00000380562.4_Splice_Site_p.G384R|ELN_ENST00000357036.5_Splice_Site_p.G389R|ELN_ENST00000380576.5_Splice_Site_p.G384R|ELN_ENST00000320399.6_Splice_Site_p.G384R|ELN_ENST00000458204.1_Splice_Site_p.G374R|ELN_ENST00000380553.4_Splice_Site_p.G267R|ELN_ENST00000380584.4_Splice_Site_p.G370R|ELN_ENST00000414324.1_Splice_Site_p.G379R|ELN_ENST00000429192.1_Splice_Site_p.G389R|ELN_ENST00000358929.4_Splice_Site_p.G384R|ELN_ENST00000445912.1_Splice_Site_p.G384R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	384	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.G384R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AGCCAAATACGGTGAGTGCTA	0.542			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	1	Substitution - Missense(1)	ovary(1)	7											130	101	111					7																	73469099		2203	4300	6503	73107035	SO:0001630	splice_region_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1150+1G>A	7.37:g.73469099G>A			73107035	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	g	13.09	2.133533	0.37630	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62788	0.13;0.08;0.15;0.0;0.96;0.11;0.96;0.98;0.18;0.09;0.88;0.92;0.91;0.04	4.04	4.04	0.47022	.	.	.	.	.	T	0.68485	0.3006	L	0.43923	1.385	0.40747	D	0.982887	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	T	0.63449	-0.6635	9	0.19147	T	0.46	.	11.9552	0.52976	0.0:0.0:1.0:0.0	.	384;353;348;379;374;384;374;389;389;384;267;340;370;384	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	384;384;384;348;379;384;374;370;374;389;389;353;267;384;384	ENSP00000389857:G384R;ENSP00000252034:G384R;ENSP00000351807:G384R;ENSP00000315607:G348R;ENSP00000392575:G379R;ENSP00000369936:G384R;ENSP00000369949:G374R;ENSP00000369958:G370R;ENSP00000403162:G374R;ENSP00000349540:G389R;ENSP00000391129:G389R;ENSP00000369926:G267R;ENSP00000369950:G384R;ENSP00000313565:G384R	ENSP00000252034:G384R	G	+	1	0	ELN	73107035	0.998000	0.40836	0.939000	0.37840	0.445000	0.32107	4.050000	0.57404	2.272000	0.75746	0.479000	0.44913	GGG		0.542	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	Missense_Mutation	A	73469099	G	A	73469099	5	1	315	1	0	0	0	0	0	0	1	0	5071	1130	39	1	1239	1	ELN	7	73469099	Splice_Site	SNP	G	TCGA-25-2399-01A-01W-0799-08		73469099	85669564	13	16827											
MUC17	140453	broad.mit.edu	37	7	100685237	100685237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr7:100685237G>T	ENST00000306151.4	+	3	10604	c.10540G>T	c.(10540-10542)Gaa>Taa	p.E3514*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3514	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.E3514*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGGTGAAGGAAGCAC	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	7											233	246	241					7																	100685237		2203	4300	6503	100471957	SO:0001587	stop_gained	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10540G>T	7.37:g.100685237G>T	ENSP00000302716:p.Glu3514*		100471957	O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	49	15.970991	0.99850	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.37	0.376	0.16193	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	5.5844	0.17267	0.2095:0.0:0.7905:0.0	.	.	.	.	X	3514	.	ENSP00000302716:E3514X	E	+	1	0	MUC17	100471957	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.575000	0.23729	-0.109000	0.12044	0.186000	0.17326	GAA		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100685237	G	T	100685237	4	4	315	1	0	0	0	0	0	1	0	0	9974	1291	45	3	10550	3	MUC17	7	100685237	Nonsense_Mutation	SNP	G	TCGA-25-2399-01A-01W-0799-08	27216138	100685237	58453426	14	16828											
MPDZ	8777	broad.mit.edu	37	9	13206068	13206068	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr9:13206068T>C	ENST00000319217.7	-	11	1568	c.1321A>G	c.(1321-1323)Aat>Gat	p.N441D	MPDZ_ENST00000381022.2_Missense_Mutation_p.N441D|MPDZ_ENST00000541718.1_Missense_Mutation_p.N441D|MPDZ_ENST00000536827.1_Missense_Mutation_p.N441D|MPDZ_ENST00000381015.4_Missense_Mutation_p.N441D|MPDZ_ENST00000447879.1_Missense_Mutation_p.N441D|MPDZ_ENST00000546205.1_Missense_Mutation_p.N441D	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	441	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.N441D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTTGCTGATTAGTAAAACCC	0.383																																																1	Substitution - Missense(1)	ovary(1)	9											134	118	123					9																	13206068		1892	4127	6019	13196068	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1321A>G	9.37:g.13206068T>C	ENSP00000320006:p.Asn441Asp		13196068	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	T	26.0	4.699284	0.88830	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	6.17	6.17	0.99709	.	0.000000	0.47455	D	0.000237	T	0.66268	0.2772	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.67597	-0.5630	10	0.49607	T	0.09	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	441;441;441	B7ZMI4;O75970-3;O75970-2	.;.;.	D	441	ENSP00000320006:N441D;ENSP00000439807:N441D;ENSP00000370410:N441D;ENSP00000444151:N441D;ENSP00000415208:N441D;ENSP00000370403:N441D;ENSP00000446358:N441D	ENSP00000320006:N441D	N	-	1	0	MPDZ	13196068	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.963000	0.70372	2.371000	0.80710	0.533000	0.62120	AAT		0.383	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		C	13206068	T	C	13206068	3	2	315	1	0	0	0	0	1	0	0	0	9722	1754	61	4	4948	4	MPDZ	9	13206068	Missense_Mutation	SNP	T	TCGA-25-2399-01A-01W-0799-08		13206068	128007363	15	16829											
ATM	472	broad.mit.edu	37	11	108199898	108199898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr11:108199898C>T	ENST00000452508.2	+	50	7429	c.7240C>T	c.(7240-7242)Caa>Taa	p.Q2414*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.Q2414*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2414	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.Q2414*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGAAAACAAGCAAGCTCTCCT	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	1	Substitution - Nonsense(1)	ovary(1)	11											77	75	76					11																	108199898		2201	4298	6499	107705108	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7240C>T	11.37:g.108199898C>T	ENSP00000388058:p.Gln2414*		107705108	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	49	15.217934	0.99826	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.54	5.54	0.83059	.	0.101830	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	19.4923	0.95056	0.0:1.0:0.0:0.0	.	.	.	.	X	2414	.	ENSP00000278616:Q2414X	Q	+	1	0	ATM	107705108	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.811000	0.86092	2.607000	0.88179	0.650000	0.86243	CAA		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108199898	C	T	108199898	4	4	315	1	0	0	0	0	0	1	0	0	1109	711	25	2	7430	2	ATM	11	108199898	Nonsense_Mutation	SNP	C	TCGA-25-2399-01A-01W-0799-08		108199898	26806618	16	16830											
CD163L1	283316	broad.mit.edu	37	12	7585296	7585296	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:7585296T>C	ENST00000313599.3	-	4	539	c.482A>G	c.(481-483)aAc>aGc	p.N161S	CD163L1_ENST00000416109.2_Missense_Mutation_p.N171S|CD163L1_ENST00000396630.1_Missense_Mutation_p.N161S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	161	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.N161S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACAGGAGTTGTTTCCATCCAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	12											88	83	85					12																	7585296		2203	4300	6503	7476563	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.482A>G	12.37:g.7585296T>C	ENSP00000315945:p.Asn161Ser		7476563	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.544737	0.00934	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.32988	1.43;1.43;1.43	2.22	-4.45	0.03546	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.05410	0.0143	N	0.00738	-1.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10800	-1.0614	9	0.02654	T	1	.	1.4854	0.02446	0.5027:0.1512:0.1266:0.2195	.	171;161	E7EVK4;Q9NR16	.;C163B_HUMAN	S	161;171;161	ENSP00000315945:N161S;ENSP00000393474:N171S;ENSP00000379871:N161S	ENSP00000315945:N161S	N	-	2	0	CD163L1	7476563	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-6.914000	0.00049	-2.329000	0.00634	-0.313000	0.08912	AAC		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		C	7585296	T	C	7585296	3	2	315	1	0	0	0	0	1	0	0	0	2968	1725	60	4	3943	4	CD163L1	12	7585296	Missense_Mutation	SNP	T	TCGA-25-2399-01A-01W-0799-08		7585296	126266599	17	16831											
ABCC9	10060	broad.mit.edu	37	12	21960393	21960393	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:21960393C>A	ENST00000261201.4	-	36	4335	c.4336G>T	c.(4336-4338)Ggg>Tgg	p.G1446W	ABCC9_ENST00000345162.2_Missense_Mutation_p.G1410W|ABCC9_ENST00000261200.4_Missense_Mutation_p.G1446W	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1446	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.G1446W(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAATTCTCCCCACCTTCAGTG	0.413																																																1	Substitution - Missense(1)	ovary(1)	12											120	107	111					12																	21960393		2203	4300	6503	21851660	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4336G>T	12.37:g.21960393C>A	ENSP00000261201:p.Gly1446Trp		21851660	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649881	0.87958	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98623	0.9539	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99659	1.0993	10	0.87932	D	0	-13.841	18.5246	0.90967	0.0:1.0:0.0:0.0	.	1446;1446	O60706;O60706-2	ABCC9_HUMAN;.	W	1446;1073;1446;1410	ENSP00000261200:G1446W;ENSP00000440521:G1073W;ENSP00000261201:G1446W;ENSP00000261202:G1410W	ENSP00000261200:G1446W	G	-	1	0	ABCC9	21851660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.534000	0.82004	2.585000	0.87301	0.561000	0.74099	GGG		0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	21960393	C	A	21960393	3	1	315	1	0	0	0	0	1	0	0	0	59	594	21	3	467	3	ABCC9	12	21960393	Missense_Mutation	SNP	C	TCGA-25-2399-01A-01W-0799-08	14375097	21960393	111891502	18	16832											
FAM113B	91523	broad.mit.edu	37	12	47629950	47629950	+	Silent	SNP	C	C	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:47629950C>T	ENST00000546455.1	+	4	1835	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.F368F			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	368	Pro-rich.						hydrolase activity (GO:0016787)	p.F368F(1)									CAGGTTTCTTCGTCGAAGACA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	12											157	153	154					12																	47629950		2203	4300	6503	45916217	SO:0001819	synonymous_variant	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1104C>T	12.37:g.47629950C>T			45916217	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	3.465	-0.109095	0.06924	.	.	ENSG00000179715	ENST00000330951	.	.	.	4.04	3.12	0.35913	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.37079	-0.9721	5	0.87932	D	0	-2.4687	9.0904	0.36607	0.2179:0.7821:0.0:0.0	.	.	.	.	L	212	.	ENSP00000328560:S212L	S	+	2	0	FAM113B	45916217	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.445000	0.21677	1.250000	0.43966	0.655000	0.94253	TCG		0.522	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		T	47629950	C	T	47629950	2	4	315	1	0	0	0	0	0	0	0	1	5402	883	31	1		1	FAM113B	12	47629950	Silent	SNP	C	TCGA-25-2399-01A-01W-0799-08	25669557	47629950	86221945	19	16833											
KRT4	3851	broad.mit.edu	37	12	53207429	53207429	+	Silent	SNP	G	G	A	rs377041915		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:53207429G>A	ENST00000551956.1	-	1	906	c.414C>T	c.(412-414)cgC>cgT	p.R138R	KRT4_ENST00000293774.4_Silent_p.R212R|KRT4_ENST00000458244.2_Silent_p.R118R			P19013	K2C4_HUMAN	keratin 4	152	Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R212R(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGATCTGTTCGCGCTCTTCCG	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		18753	0		0	False		,,,				2504	0				Pancreas(190;284 2995 41444 45903)											1	Substitution - coding silent(1)	ovary(1)	12						G		0,4406		0,0,2203	160	167	165		414	-9.8	0	12		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT4	NM_002272.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		138/521	53207429	1,13005	2203	4300	6503	51493696	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.414C>T	12.37:g.53207429G>A			51493696	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																				0.572	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		A	53207429	G	A	53207429	2	1	315	1	0	0	0	0	0	0	0	1	8477	1074	38	1		1	KRT4	12	53207429	Silent	SNP	G	TCGA-25-2399-01A-01W-0799-08	5577479	53207429	80644466	20	16834											
KRT8	3856	broad.mit.edu	37	12	53293652	53293652	+	Silent	SNP	G	G	A	rs369468722		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:53293652G>A	ENST00000552551.1	-	6	1320	c.888C>T	c.(886-888)caC>caT	p.H296H	KRT8_ENST00000546897.1_Silent_p.H296H|KRT8_ENST00000293308.6_Silent_p.H296H|KRT8_ENST00000552150.1_Silent_p.H324H			P05787	K2C8_HUMAN	keratin 8	296	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.H296H(1)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	GGTCATCCCCGTGCTTCCCAG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	12						G		0,4406		0,0,2203	37	36	37		888	-0.7	1	12		37	1,8599		0,1,4299	no	coding-synonymous	KRT8	NM_002273.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		296/484	53293652	1,13005	2203	4300	6503	51579919	SO:0001819	synonymous_variant	3856			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.888C>T	12.37:g.53293652G>A			51579919	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	CCDS8841.1																																																																																				0.582	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		A	53293652	G	A	53293652	2	1	315	1	0	0	0	0	0	0	0	1	8493	1136	40	1		1	KRT8	12	53293652	Silent	SNP	G	TCGA-25-2399-01A-01W-0799-08	86223	53293652	80558243	21	16835											
IQCD	115811	broad.mit.edu	37	12	113645405	113645405	+	Silent	SNP	C	C	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:113645405C>T	ENST00000416617.2	-	2	757	c.567G>A	c.(565-567)gaG>gaA	p.E189E	IQCD_ENST00000299732.2_Silent_p.E189E|IQCD_ENST00000546692.1_Silent_p.E189E			Q96DY2	IQCD_HUMAN	IQ motif containing D	189								p.E189E(1)		endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AACCACGGAGCTCTATCAGGC	0.478																																																1	Substitution - coding silent(1)	ovary(1)	12											100	95	97					12																	113645405		2203	4300	6503	112129788	SO:0001819	synonymous_variant	115811			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 10"					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.567G>A	12.37:g.113645405C>T			112129788	Q6ZSU0	Silent	SNP	ENST00000416617.2	37																																																																																					0.478	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		T	113645405	C	T	113645405	2	4	315	1	0	0	0	0	0	0	0	1	7805	796	28	2		2	IQCD	12	113645405	Silent	SNP	C	TCGA-25-2399-01A-01W-0799-08	60351753	113645405	20206490	22	16836											
RNF6	6049	broad.mit.edu	37	13	26789649	26789649	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr13:26789649T>C	ENST00000381588.4	-	5	1122	c.370A>G	c.(370-372)Act>Gct	p.T124A	RNF6_ENST00000346166.3_Missense_Mutation_p.T124A|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000399762.2_Silent_p.Q2Q|RNF6_ENST00000381570.3_Missense_Mutation_p.T124A	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	124					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T124A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CCACTTCGAGTTGCATTTCCT	0.428																																																1	Substitution - Missense(1)	ovary(1)	13											89	68	75					13																	26789649		2203	4300	6503	25687649	SO:0001583	missense	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.370A>G	13.37:g.26789649T>C	ENSP00000371000:p.Thr124Ala		25687649	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382376	0.61845	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.15718	2.4;2.4;2.4	4.59	3.4	0.38934	.	0.063660	0.64402	D	0.000008	T	0.20981	0.0505	M	0.77313	2.365	0.80722	D	1	P;B	0.44690	0.841;0.433	B;B	0.38842	0.283;0.269	T	0.04467	-1.0949	10	0.87932	D	0	-6.2458	10.1071	0.42539	0.0:0.0795:0.0:0.9205	.	124;124	Q9Y252;Q9BZP5	RNF6_HUMAN;.	A	124	ENSP00000342121:T124A;ENSP00000371000:T124A;ENSP00000370982:T124A	ENSP00000342121:T124A	T	-	1	0	RNF6	25687649	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	5.815000	0.69215	0.792000	0.33850	0.455000	0.32223	ACT		0.428	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		C	26789649	T	C	26789649	3	2	315	1	0	0	0	0	1	0	0	0	13501	1725	60	4	1691	4	RNF6	13	26789649	Missense_Mutation	SNP	T	TCGA-25-2399-01A-01W-0799-08		26789649	88380229	23	16837											
OR11G2	390439	broad.mit.edu	37	14	20665969	20665969	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr14:20665969G>C	ENST00000357366.3	+	1	475	c.475G>C	c.(475-477)Gat>Cat	p.D159H		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D159H(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TATGGCATTTGATCGATACCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	14											91	82	85					14																	20665969		2203	4300	6503	19735809	SO:0001583	missense	390439				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.475G>C	14.37:g.20665969G>C	ENSP00000349930:p.Asp159His		19735809	Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.140399	0.77775	.	.	ENSG00000196832	ENST00000357366	T	0.18338	2.22	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000138	T	0.55784	0.1942	H	0.95780	3.72	0.44417	D	0.997332	D	0.89917	1.0	D	0.97110	1.0	T	0.70572	-0.4835	10	0.87932	D	0	.	17.0842	0.86606	0.0:0.0:1.0:0.0	.	159	Q8NGC1	O11G2_HUMAN	H	159	ENSP00000349930:D159H	ENSP00000349930:D159H	D	+	1	0	OR11G2	19735809	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.429000	0.97481	2.565000	0.86533	0.650000	0.86243	GAT		0.463	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			C	20665969	G	C	20665969	3	2	315	1	0	0	0	0	1	0	0	0	10925	1290	45	3	477	3	OR11G2	14	20665969	Missense_Mutation	SNP	G	TCGA-25-2399-01A-01W-0799-08		20665969	86683571	24	16838											
PRKD1	5587	broad.mit.edu	37	14	30107928	30107928	+	Silent	SNP	C	C	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr14:30107928C>G	ENST00000331968.5	-	5	1108	c.879G>C	c.(877-879)ggG>ggC	p.G293G	PRKD1_ENST00000415220.2_Silent_p.G301G|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	293					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G293G(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCCTGAAAAGCCCCTTCAGAA	0.458																																																2	Substitution - coding silent(2)	ovary(2)	14											60	55	57					14																	30107928		2203	4300	6503	29177679	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.879G>C	14.37:g.30107928C>G			29177679	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																				0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		G	30107928	C	G	30107928	2	3	315	1	0	0	0	0	0	0	0	1	12521	726	26	3		3	PRKD1	14	30107928	Silent	SNP	C	TCGA-25-2399-01A-01W-0799-08	9441959	30107928	77241612	25	16839											
SERPINA3	12	broad.mit.edu	37	14	95090124	95090124	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr14:95090124C>G	ENST00000467132.1	+	5	2393	c.1245C>G	c.(1243-1245)agC>agG	p.S415R	SERPINA3_ENST00000393080.4_Missense_Mutation_p.S415R|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.S197R|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S415R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	415					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S415R(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCTTCATGAGCAAAGTCACCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	14											166	146	153					14																	95090124		2203	4300	6503	94159877	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1245C>G	14.37:g.95090124C>G	ENSP00000450540:p.Ser415Arg		94159877	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495725	0.44352	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	4.99	3.04	0.35103	Serpin domain (3);	0.652042	0.14557	N	0.312326	T	0.79986	0.4541	L	0.31926	0.97	0.28152	N	0.929343	B;P	0.50710	0.358;0.938	B;B	0.42282	0.378;0.382	T	0.74702	-0.3576	10	0.62326	D	0.03	.	9.1458	0.36933	0.2206:0.6465:0.1329:0.0	.	415;440	P01011;G3V5I3	AACT_HUMAN;.	R	440;415;415;415;197	ENSP00000452367:S440R;ENSP00000376793:S415R;ENSP00000376795:S415R;ENSP00000450540:S415R;ENSP00000451119:S197R	ENSP00000376793:S415R	S	+	3	2	SERPINA3	94159877	0.086000	0.21541	0.027000	0.17364	0.008000	0.06430	-0.584000	0.05800	2.460000	0.83146	0.563000	0.77884	AGC		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		G	95090124	C	G	95090124	3	3	315	1	0	0	0	0	1	0	0	0	14093	709	25	3	1259	3	SERPINA3	14	95090124	Missense_Mutation	SNP	C	TCGA-25-2399-01A-01W-0799-08	64982196	95090124	12259416	26	16840											
ZKSCAN2	342357	broad.mit.edu	37	16	25258105	25258105	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr16:25258105T>A	ENST00000328086.7	-	5	2215	c.1412A>T	c.(1411-1413)gAt>gTt	p.D471V		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	471					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D471V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCATCATCATCAGAATCTTC	0.453																																																1	Substitution - Missense(1)	ovary(1)	16											152	139	143					16																	25258105		2197	4300	6497	25165606	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1412A>T	16.37:g.25258105T>A	ENSP00000331626:p.Asp471Val		25165606	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607969	0.66558	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.09911	2.93	5.57	4.48	0.54585	.	0.084342	0.51477	D	0.000089	T	0.14960	0.0361	M	0.64997	1.995	0.58432	D	0.999993	P;B;P	0.41313	0.535;0.063;0.745	B;B;B	0.42959	0.403;0.022;0.403	T	0.01056	-1.1466	10	0.87932	D	0	-15.5771	8.589	0.33674	0.0:0.0876:0.0:0.9124	.	267;471;471	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	V	471	ENSP00000331626:D471V	ENSP00000331626:D471V	D	-	2	0	ZKSCAN2	25165606	1.000000	0.71417	0.864000	0.33941	0.981000	0.71138	2.508000	0.45450	1.043000	0.40175	0.533000	0.62120	GAT		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		A	25258105	T	A	25258105	3	1	315	1	0	0	0	0	1	0	0	0	17687	1435	50	5	1503	5	ZKSCAN2	16	25258105	Missense_Mutation	SNP	T	TCGA-25-2399-01A-01W-0799-08		25258105	65096648	27	16841											
PHKB	5257	broad.mit.edu	37	16	47623001	47623001	+	Silent	SNP	A	A	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr16:47623001A>G	ENST00000323584.5	+	10	1080	c.1056A>G	c.(1054-1056)ccA>ccG	p.P352P	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Silent_p.P345P|PHKB_ENST00000455779.1_Silent_p.P345P|PHKB_ENST00000299167.8_Silent_p.P352P	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	352					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.P352P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACTACAAGCCAGCTGAAATTA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	16											55	59	58					16																	47623001		2201	4300	6501	46180502	SO:0001819	synonymous_variant	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1056A>G	16.37:g.47623001A>G			46180502	Q8N4T5	Silent	SNP	ENST00000323584.5	37	CCDS10729.1																																																																																				0.358	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			G	47623001	A	G	47623001	2	3	315	1	0	0	0	0	0	0	0	1	11845	175	7	4		4	PHKB	16	47623001	Silent	SNP	A	TCGA-25-2399-01A-01W-0799-08	22364896	47623001	42731752	28	16842											
CDH3	1001	broad.mit.edu	37	16	68725811	68725811	+	Missense_Mutation	SNP	G	G	A	rs372221192		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr16:68725811G>A	ENST00000264012.4	+	13	2528	c.1984G>A	c.(1984-1986)Gct>Act	p.A662T	CDH3_ENST00000581171.1_Missense_Mutation_p.A607T|CDH3_ENST00000429102.2_Missense_Mutation_p.A662T	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	662					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.A662T(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGTGCTGGGGGCTGTCCTGGC	0.602																																																3	Unknown(2)|Substitution - Missense(1)	breast(2)|ovary(1)	16						G	THR/ALA	0,4396		0,0,2198	75	65	68		1984	4.6	1	16		68	2,8598	2.2+/-6.3	0,2,4298	no	missense	CDH3	NM_001793.4	58	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	662/830	68725811	2,12994	2198	4300	6498	67283312	SO:0001583	missense	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1984G>A	16.37:g.68725811G>A	ENSP00000264012:p.Ala662Thr		67283312	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267518	0.40095	0.0	2.33E-4	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.61392	0.11;0.19	5.61	4.64	0.57946	.	0.000000	0.39341	N	0.001391	T	0.61261	0.2333	M	0.67953	2.075	0.33056	D	0.533474	D	0.55172	0.97	P	0.52066	0.689	T	0.71623	-0.4537	10	0.54805	T	0.06	.	6.7932	0.23711	0.0874:0.0:0.7358:0.1769	.	662	P22223	CADH3_HUMAN	T	662;662;607	ENSP00000398485:A662T;ENSP00000264012:A662T	ENSP00000264012:A662T	A	+	1	0	CDH3	67283312	0.914000	0.31030	0.996000	0.52242	0.887000	0.51463	3.806000	0.55583	2.804000	0.96469	0.462000	0.41574	GCT		0.602	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		A	68725811	G	A	68725811	3	1	315	1	0	0	0	0	1	0	0	0	3111	1203	42	2	2034	2	CDH3	16	68725811	Missense_Mutation	SNP	G	TCGA-25-2399-01A-01W-0799-08	21102810	68725811	21628942	29	16843											
KIAA1609	57707	broad.mit.edu	37	16	84520435	84520435	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr16:84520435T>C	ENST00000343629.6	-	5	942	c.760A>G	c.(760-762)Atc>Gtc	p.I254V	TLDC1_ENST00000535580.1_Missense_Mutation_p.I227V|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	254						lysosomal membrane (GO:0005765)		p.I254V(1)									TGGGCGTTGATGTACATGACA	0.592																																																1	Substitution - Missense(1)	ovary(1)	16											50	47	48					16																	84520435		2200	4300	6500	83077936	SO:0001583	missense	57707			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.760A>G	16.37:g.84520435T>C	ENSP00000343635:p.Ile254Val		83077936	Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	T	0.499	-0.871889	0.02570	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.11277	2.97;2.79	5.32	-10.6	0.00265	TLDc (1);	0.663223	0.15746	N	0.246675	T	0.04452	0.0122	N	0.17474	0.49	0.18873	N	0.999988	B;B	0.12630	0.004;0.006	B;B	0.14578	0.003;0.011	T	0.17289	-1.0374	10	0.23891	T	0.37	-7.6553	10.8726	0.46891	0.0:0.1944:0.3892:0.4164	.	227;254	F5GWS3;Q6P9B6	.;K1609_HUMAN	V	254;227	ENSP00000343635:I254V;ENSP00000441997:I227V	ENSP00000343635:I254V	I	-	1	0	KIAA1609	83077936	0.042000	0.20092	0.000000	0.03702	0.003000	0.03518	-1.437000	0.02419	-3.367000	0.00178	-0.242000	0.12053	ATC		0.592	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		C	84520435	T	C	84520435	3	2	315	1	0	0	0	0	1	0	0	0	8247	1464	51	4	626	4	KIAA1609	16	84520435	Missense_Mutation	SNP	T	TCGA-25-2399-01A-01W-0799-08	15794624	84520435	5834318	30	16844											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	315	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-25-2399-01A-01W-0799-08		7578406	73616804	31	16845											
NCOR1	9611	broad.mit.edu	37	17	15995294	15995294	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr17:15995294T>C	ENST00000268712.3	-	22	3156	c.2899A>G	c.(2899-2901)Atg>Gtg	p.M967V	NCOR1_ENST00000395851.1_Missense_Mutation_p.M983V|NCOR1_ENST00000395848.1_Missense_Mutation_p.M874V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	967					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.M967V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACTCATGCATTGCTTTAATG	0.468																																																1	Substitution - Missense(1)	ovary(1)	17											148	139	142					17																	15995294		2203	4300	6503	15936019	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2899A>G	17.37:g.15995294T>C	ENSP00000268712:p.Met967Val		15936019	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	8.428	0.848041	0.17034	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.32515	1.45;1.45;1.45	5.26	4.18	0.49190	.	0.182247	0.64402	N	0.000011	T	0.19886	0.0478	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.14012	0.007;0.009;0.0;0.0	B;B;B;B	0.14023	0.01;0.005;0.0;0.001	T	0.07102	-1.0790	10	0.02654	T	1	-10.7357	10.6099	0.45415	0.0:0.0762:0.0:0.9237	.	874;874;967;983	E9PGV6;Q7Z516;O75376;O75376-2	.;.;NCOR1_HUMAN;.	V	967;983;874;874	ENSP00000268712:M967V;ENSP00000379192:M983V;ENSP00000379189:M874V	ENSP00000268712:M967V	M	-	1	0	NCOR1	15936019	0.999000	0.42202	0.967000	0.41034	0.993000	0.82548	4.285000	0.58989	0.926000	0.37118	-0.297000	0.09499	ATG		0.468	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		C	15995294	T	C	15995294	3	2	315	1	0	0	0	0	1	0	0	0	10235	1493	52	4	4523	4	NCOR1	17	15995294	Missense_Mutation	SNP	T	TCGA-25-2399-01A-01W-0799-08	8416888	15995294	65199916	32	16846											
CACNA1A	773	broad.mit.edu	37	19	13341003	13341003	+	Silent	SNP	G	G	A	rs372359926		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr19:13341003G>A	ENST00000360228.5	-	36	5420	c.5421C>T	c.(5419-5421)gcC>gcT	p.A1807A	CACNA1A_ENST00000573710.2_Silent_p.A1808A|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1808					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.A1808A(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATGATGACGGCGACAAAGA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	19						G	,,,,	0,4184		0,0,2092	88	95	93		5439,5424,5421,5430,5439	-2.2	0.9	19		93	1,8493		0,1,4246	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,1,6338	AA,AG,GG		0.0118,0.0,0.0079	,,,,	1813/2267,1808/2262,1807/2507,1810/2264,1813/2513	13341003	1,12677	2092	4247	6339	13202003	SO:0001819	synonymous_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5421C>T	19.37:g.13341003G>A			13202003	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.577	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13341003	G	A	13341003	2	1	315	1	0	0	0	0	0	0	0	1	2538	1103	39	1		1	CACNA1A	19	13341003	Silent	SNP	G	TCGA-25-2399-01A-01W-0799-08		13341003	45787980	33	16847											
RYR1	6261	broad.mit.edu	37	19	38980779	38980779	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr19:38980779G>T	ENST00000359596.3	+	36	5878	c.5878G>T	c.(5878-5880)Gcc>Tcc	p.A1960S	RYR1_ENST00000360985.3_Missense_Mutation_p.A1960S|RYR1_ENST00000355481.4_Missense_Mutation_p.A1960S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1960	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A1960S(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTCCCTGGCAGCCTTTGCGGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											67	58	61					19																	38980779		2203	4300	6503	43672619	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5878G>T	19.37:g.38980779G>T	ENSP00000352608:p.Ala1960Ser		43672619	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492374	0.64074	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72615	-0.67;-0.67;-0.67	4.61	4.61	0.57282	.	0.000000	0.64402	U	0.000005	T	0.61689	0.2367	L	0.46157	1.445	0.45747	D	0.998649	P;P	0.46784	0.884;0.816	B;B	0.39152	0.292;0.152	T	0.62964	-0.6742	10	0.32370	T	0.25	.	13.3985	0.60868	0.0:0.0:0.8422:0.1578	.	1960;1960	P21817-2;P21817	.;RYR1_HUMAN	S	1960	ENSP00000352608:A1960S;ENSP00000347667:A1960S;ENSP00000354254:A1960S	ENSP00000347667:A1960S	A	+	1	0	RYR1	43672619	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	4.508000	0.60441	2.365000	0.80145	0.557000	0.71058	GCC		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38980779	G	T	38980779	3	4	315	1	0	0	0	0	1	0	0	0	13771	971	34	3	6020	3	RYR1	19	38980779	Missense_Mutation	SNP	G	TCGA-25-2399-01A-01W-0799-08	25639776	38980779	20148204	34	16848											
PSG7	5676	broad.mit.edu	37	19	43433693	43433693	+	RNA	SNP	G	G	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr19:43433693G>T	ENST00000406070.2	-	0	706				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ACACCAAATAGGTAGAGGGTC	0.522																																																0			19											293	300	297					19																	43433693		2201	4300	6501	48125533			5676					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433693G>T			48125533	Q15232	Missense_Mutation	SNP	ENST00000406070.2	37																																																																																					0.522	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		T	43433693	G	T	43433693	1	4	315	0	1	0	0	0	0	0	0	0	12663	991	35	3		3	PSG7	19	43433693	RNA	SNP	G	TCGA-25-2399-01A-01W-0799-08	4452914	43433693	15695290	35	16849											
KIR3DL1	3811	broad.mit.edu	37	19	55331398	55331398	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr19:55331398T>G	ENST00000391728.4	+	4	619	c.586T>G	c.(586-588)Tac>Gac	p.Y196D	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Y196D|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Y196D|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Y196D|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Y196D|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Y101D	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	196	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.Y196D(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTACAGATGCTACGGTTCTGT	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											201	170	180					19																	55331398		2186	4160	6346	60023210	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.586T>G	19.37:g.55331398T>G	ENSP00000375608:p.Tyr196Asp		60023210	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	11.58	1.682043	0.29872	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0	1.44	1.44	0.22558	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.595647	0.12643	U	0.451139	T	0.24586	0.0596	H	0.97315	3.98	0.09310	N	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.952;1.0;1.0;0.998	T	0.06285	-1.0835	10	0.87932	D	0	.	5.0308	0.14409	0.0:0.0:0.0:1.0	.	196;101;196;196	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	D	196;196;196;174;196;196;101	ENSP00000384528:Y196D;ENSP00000443350:Y196D;ENSP00000442355:Y196D;ENSP00000375608:Y196D;ENSP00000326868:Y196D;ENSP00000350901:Y101D	ENSP00000326868:Y196D	Y	+	1	0	KIR3DL1	60023210	0.029000	0.19370	0.099000	0.21106	0.011000	0.07611	0.369000	0.20416	0.939000	0.37446	0.155000	0.16302	TAC		0.542	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		G	55331398	T	G	55331398	3	3	315	1	0	0	0	0	1	0	0	0	8320	1522	53	5	600	5	KIR3DL1	19	55331398	Missense_Mutation	SNP	T	TCGA-25-2399-01A-01W-0799-08	11897705	55331398	3797585	36	16850											
ZBP1	81030	broad.mit.edu	37	20	56188266	56188266	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr20:56188266A>G	ENST00000371173.3	-	5	800	c.623T>C	c.(622-624)aTt>aCt	p.I208T	ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000343535.4_Missense_Mutation_p.I208T|ZBP1_ENST00000340462.4_Missense_Mutation_p.I185T|ZBP1_ENST00000395822.3_Missense_Mutation_p.I133T|ZBP1_ENST00000541799.1_Missense_Mutation_p.I208T	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	208					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.I208T(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCCGTGTCCAATCTGGATGGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	20											189	159	169					20																	56188266		2203	4300	6503	55621672	SO:0001583	missense	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.623T>C	20.37:g.56188266A>G	ENSP00000360215:p.Ile208Thr		55621672	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908946	0.52439	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	3.36	3.36	0.38483	.	0.000000	0.43919	D	0.000513	T	0.74458	0.3719	L	0.54323	1.7	0.33741	D	0.619381	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.80643	-0.1291	10	0.87932	D	0	-19.2827	8.4548	0.32893	1.0:0.0:0.0:0.0	.	208;208;133;208	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	T	208;133;185;208;208;208	ENSP00000360215:I208T;ENSP00000379167:I133T;ENSP00000344954:I185T;ENSP00000340584:I208T;ENSP00000440552:I208T	ENSP00000344954:I185T	I	-	2	0	ZBP1	55621672	0.983000	0.35010	0.917000	0.36280	0.017000	0.09413	3.454000	0.52986	1.781000	0.52344	0.379000	0.24179	ATT		0.522	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		G	56188266	A	G	56188266	3	3	315	1	0	0	0	0	1	0	0	0	17521	101	4	4	759	4	ZBP1	20	56188266	Missense_Mutation	SNP	A	TCGA-25-2399-01A-01W-0799-08		56188266	6837254	37	16851											
RABGGTB	5876	broad.mit.edu	37	1	76260326	76260326	+	Silent	SNP	A	A	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr1:76260326A>G	ENST00000319942.3	+	9	1058	c.987A>G	c.(985-987)ctA>ctG	p.L329L	MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000535300.1_Silent_p.L155L|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	329					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.L329L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						AGCCTGAGCTAGTGAGCTAGA	0.368																																																1	Substitution - coding silent(1)	ovary(1)	1											115	112	113					1																	76260326		2203	4300	6503	76032914	SO:0001819	synonymous_variant	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.987A>G	1.37:g.76260326A>G			76032914	Q92697	Silent	SNP	ENST00000319942.3	37	CCDS669.1																																																																																				0.368	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		G	76260326	A	G	76260326	2	3	316	1	0	0	0	0	0	0	0	1	12971	407	15	4		4	RABGGTB	1	76260326	Silent	SNP	A	TCGA-25-2400-01A-01W-0799-08		76260326	172990295	1	16852											
ARHGAP29	9411	broad.mit.edu	37	1	94645387	94645387	+	Missense_Mutation	SNP	T	T	C	rs138781972		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr1:94645387T>C	ENST00000260526.6	-	20	2556	c.2374A>G	c.(2374-2376)Atg>Gtg	p.M792V	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	792	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.M792V(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTATACACATATTTGGCCAT	0.308																																																1	Substitution - Missense(1)	ovary(1)	1						T	VAL/MET	2,4404	4.2+/-10.8	0,2,2201	155	151	152		2374	-2.6	0	1	dbSNP_134	152	0,8590		0,0,4295	no	missense	ARHGAP29	NM_004815.3	21	0,2,6496	CC,CT,TT		0.0,0.0454,0.0154	benign	792/1262	94645387	2,12994	2203	4295	6498	94417975	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2374A>G	1.37:g.94645387T>C	ENSP00000260526:p.Met792Val		94417975	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	6.623	0.483285	0.12581	4.54E-4	0.0	ENSG00000137962	ENST00000260526	T	0.19938	2.11	5.48	-2.57	0.06248	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.873453	0.09480	N	0.796497	T	0.01454	0.0047	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43702	-0.9375	10	0.05959	T	0.93	0.0157	1.5426	0.02558	0.2868:0.3293:0.1001:0.2838	.	792;792	F8VWZ8;Q52LW3	.;RHG29_HUMAN	V	792	ENSP00000260526:M792V	ENSP00000260526:M792V	M	-	1	0	ARHGAP29	94417975	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	-0.025000	0.12413	-0.090000	0.12462	0.528000	0.53228	ATG		0.308	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		C	94645387	T	C	94645387	3	2	316	1	0	0	0	0	1	0	0	0	878	1406	49	4	1427	4	ARHGAP29	1	94645387	Missense_Mutation	SNP	T	TCGA-25-2400-01A-01W-0799-08	18385061	94645387	154605234	2	16853											
RABGAP1L	9910	broad.mit.edu	37	1	174927031	174927031	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr1:174927031G>C	ENST00000251507.4	+	21	2611	c.2437G>C	c.(2437-2439)Gta>Cta	p.V813L	RABGAP1L_ENST00000478442.1_Missense_Mutation_p.V70L|RABGAP1L_ENST00000392064.2_Intron|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000367687.1_Intron|RABGAP1L_ENST00000325589.5_Intron|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.V70L|RABGAP1L_ENST00000489615.1_Intron|RABGAP1L_ENST00000347255.2_Intron	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.V813L(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTTTCAGTTTGTATATTTGTA	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											118	112	114					1																	174927031		2203	4300	6503	173193654	SO:0001583	missense	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2437G>C	1.37:g.174927031G>C	ENSP00000251507:p.Val813Leu		173193654	B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544820	0.45280	.	.	ENSG00000152061	ENST00000251507;ENST00000478442;ENST00000486220	T	0.04654	3.58	5.91	5.0	0.66597	.	0.243896	0.39146	N	0.001453	T	0.02571	0.0078	N	0.08118	0	0.80722	D	1	B;B	0.25312	0.002;0.123	B;B	0.18263	0.002;0.021	T	0.54655	-0.8261	10	0.26408	T	0.33	.	7.8181	0.29271	0.215:0.0:0.785:0.0	.	120;813	Q9Y3L8;Q5R372	.;RBG1L_HUMAN	L	813;70;70	ENSP00000251507:V813L	ENSP00000251507:V813L	V	+	1	0	RABGAP1L	173193654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.492000	0.45311	1.500000	0.48636	0.655000	0.94253	GTA		0.363	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		C	174927031	G	C	174927031	3	2	316	1	0	0	0	0	1	0	0	0	12968	1377	48	3	2630	3	RABGAP1L	1	174927031	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08	80281644	174927031	74323590	3	16854											
SOS1	6654	broad.mit.edu	37	2	39213419	39213419	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr2:39213419G>C	ENST00000426016.1	-	24	3634	c.3548C>G	c.(3547-3549)cCt>cGt	p.P1183R	SOS1_ENST00000395038.2_Missense_Mutation_p.P1168R|SOS1_ENST00000402219.2_Missense_Mutation_p.P1183R			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1183					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1183R(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTGCCTAGGAGGAATGGCTGG	0.383									Noonan syndrome																																							1	Substitution - Missense(1)	ovary(1)	2											71	77	75					2																	39213419		2203	4300	6503	39066923	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3548C>G	2.37:g.39213419G>C	ENSP00000387784:p.Pro1183Arg		39066923	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390531	0.62066	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;D	0.84146	-1.24;-1.24;-1.81	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90151	0.4221	10	0.48119	T	0.1	.	19.559	0.95364	0.0:0.0:1.0:0.0	.	1183	Q07889	SOS1_HUMAN	R	1183;1183;900;1168	ENSP00000387784:P1183R;ENSP00000384675:P1183R;ENSP00000378479:P1168R	ENSP00000378479:P1168R	P	-	2	0	SOS1	39066923	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.554000	0.90689	2.706000	0.92434	0.650000	0.86243	CCT		0.383	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		C	39213419	G	C	39213419	3	2	316	1	0	0	0	0	1	0	0	0	14939	1000	35	3	457	3	SOS1	2	39213419	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08		39213419	203985954	4	16855											
MAP3K2	10746	broad.mit.edu	37	2	128083320	128083320	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr2:128083320C>G	ENST00000409947.1	-	9	943	c.661G>C	c.(661-663)Gat>Cat	p.D221H	MAP3K2_ENST00000344908.5_Missense_Mutation_p.D221H			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	221					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.D221H(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	AAAGGACTATCAAGTGATGGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	2											130	119	122					2																	128083320		1834	4098	5932	127799790	SO:0001583	missense	10746			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.661G>C	2.37:g.128083320C>G	ENSP00000387246:p.Asp221His		127799790	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337879	0.81911	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.55413	0.52;0.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.72110	-0.4389	10	0.62326	D	0.03	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	221	Q9Y2U5	M3K2_HUMAN	H	221	ENSP00000387246:D221H;ENSP00000343463:D221H	ENSP00000343463:D221H	D	-	1	0	MAP3K2	127799790	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.233000	0.78125	2.838000	0.97847	0.655000	0.94253	GAT		0.423	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		G	128083320	C	G	128083320	3	3	316	1	0	0	0	0	1	0	0	0	9250	826	29	3	1234	3	MAP3K2	2	128083320	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08	88869901	128083320	115116053	5	16856											
XIRP2	129446	broad.mit.edu	37	2	168103651	168103651	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr2:168103651C>A	ENST00000409195.1	+	9	5838	c.5749C>A	c.(5749-5751)Ctt>Att	p.L1917I	XIRP2_ENST00000409273.1_Missense_Mutation_p.L1695I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1917I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1742					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L1917I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAAGGAGCTTCTCAAAGA	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											54	50	52					2																	168103651		1830	4085	5915	167811897	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5749C>A	2.37:g.168103651C>A	ENSP00000386840:p.Leu1917Ile		167811897	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	5.205	0.223411	0.09863	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03035	4.07;4.07;4.07	5.46	3.53	0.40419	.	0.345738	0.27981	N	0.017063	T	0.06325	0.0163	M	0.65975	2.015	0.39800	D	0.972552	P;D;B	0.57571	0.921;0.98;0.36	B;P;B	0.45310	0.284;0.476;0.09	T	0.43686	-0.9376	10	0.30078	T	0.28	-14.2685	9.2845	0.37749	0.1336:0.5509:0.3155:0.0	.	1742;1742;1695	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	1917;1917;1695	ENSP00000386840:L1917I;ENSP00000295237:L1917I;ENSP00000387255:L1695I	ENSP00000295237:L1917I	L	+	1	0	XIRP2	167811897	1.000000	0.71417	0.961000	0.40146	0.130000	0.20726	2.423000	0.44705	1.429000	0.47314	-0.175000	0.13238	CTT		0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168103651	C	A	168103651	3	1	316	1	0	0	0	0	1	0	0	0	17430	797	28	3	5779	3	XIRP2	2	168103651	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08	40020331	168103651	75095722	6	16857											
ZNF804A	91752	broad.mit.edu	37	2	185800759	185800759	+	Silent	SNP	C	C	A	rs546038601	byFrequency	TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr2:185800759C>A	ENST00000302277.6	+	4	1230	c.636C>A	c.(634-636)atC>atA	p.I212I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	212							metal ion binding (GO:0046872)	p.I212I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GACACAAAATCGGCTTTTCTT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	2											67	68	68					2																	185800759		2203	4300	6503	185509004	SO:0001819	synonymous_variant	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.636C>A	2.37:g.185800759C>A			185509004	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																				0.438	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185800759	C	A	185800759	2	1	316	1	0	0	0	0	0	0	0	1	18170	874	31	3		3	ZNF804A	2	185800759	Silent	SNP	C	TCGA-25-2400-01A-01W-0799-08	17697108	185800759	57398614	7	16858											
IL5RA	3568	broad.mit.edu	37	3	3137080	3137080	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr3:3137080C>T	ENST00000446632.2	-	8	1332	c.758G>A	c.(757-759)cGt>cAt	p.R253H	IL5RA_ENST00000383846.1_Missense_Mutation_p.R253H|IL5RA_ENST00000311981.8_Missense_Mutation_p.R253H|IL5RA_ENST00000256452.3_Missense_Mutation_p.R253H|IL5RA_ENST00000456302.1_Missense_Mutation_p.R253H|IL5RA_ENST00000438560.1_Missense_Mutation_p.R253H|IL5RA_ENST00000430514.2_Missense_Mutation_p.R253H|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000445864.2_Intron	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.R253H(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GATAGAGAGACGAGTTCCTTC	0.358																																					GBM(169;430 2801 24955 28528)											1	Substitution - Missense(1)	ovary(1)	3											102	100	101					3																	3137080		2203	4300	6503	3112080	SO:0001583	missense	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.758G>A	3.37:g.3137080C>T	ENSP00000412209:p.Arg253His		3112080	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	C	8.755	0.922304	0.17982	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302	D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.0	-4.37	0.03633	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.674050	0.02815	N	0.124883	T	0.73241	0.3562	N	0.25647	0.755	0.22754	N	0.998777	B;B;B;B	0.20459	0.045;0.015;0.018;0.008	B;B;B;B	0.11329	0.005;0.003;0.006;0.001	T	0.57516	-0.7798	10	0.22109	T	0.4	0.7631	6.4765	0.22039	0.0:0.218:0.3584:0.4236	.	253;253;253;253	B4E2G0;Q01344-3;Q01344-2;Q01344	.;.;.;IL5RA_HUMAN	H	253	ENSP00000412209:R253H;ENSP00000390753:R253H;ENSP00000256452:R253H;ENSP00000373358:R253H;ENSP00000309196:R253H;ENSP00000400400:R253H;ENSP00000392059:R253H	ENSP00000256452:R253H	R	-	2	0	IL5RA	3112080	0.000000	0.05858	0.001000	0.08648	0.696000	0.40369	-0.391000	0.07323	-0.752000	0.04728	-0.150000	0.13652	CGT		0.358	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			T	3137080	C	T	3137080	3	4	316	1	0	0	0	0	1	0	0	0	7700	536	19	1	550	1	IL5RA	3	3137080	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08		3137080	194885350	8	16859											
HTR1F	3355	broad.mit.edu	37	3	88040588	88040588	+	Missense_Mutation	SNP	T	T	A	rs200867459		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr3:88040588T>A	ENST00000319595.4	+	1	743	c.689T>A	c.(688-690)cTt>cAt	p.L230H		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	230					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L230H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GGCCAAGTCCTTTTGGAGAGT	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											69	70	69					3																	88040588		2203	4300	6503	88123278	SO:0001583	missense	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.689T>A	3.37:g.88040588T>A	ENSP00000322924:p.Leu230His		88123278		Missense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.967220	0.34754	.	.	ENSG00000179097	ENST00000319595	T	0.72394	-0.65	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.139707	0.48767	D	0.000172	T	0.74543	0.3730	L	0.35414	1.06	0.19575	N	0.999963	D	0.89917	1.0	D	0.69142	0.962	T	0.66464	-0.5917	10	0.40728	T	0.16	.	12.7021	0.57038	0.0:0.0:0.0:1.0	.	230	P30939	5HT1F_HUMAN	H	230	ENSP00000322924:L230H	ENSP00000322924:L230H	L	+	2	0	HTR1F	88123278	0.915000	0.31059	0.542000	0.28115	0.899000	0.52679	2.919000	0.48836	1.897000	0.54924	0.377000	0.23210	CTT		0.373	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		A	88040588	T	A	88040588	3	1	316	1	0	0	0	0	1	0	0	0	7440	1609	56	5	691	5	HTR1F	3	88040588	Missense_Mutation	SNP	T	TCGA-25-2400-01A-01W-0799-08	84903508	88040588	109981842	9	16860											
SKP2	6502	broad.mit.edu	37	5	36177066	36177066	+	Splice_Site	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr5:36177066G>C	ENST00000274255.6	+	8	1097		c.e8-1		SKP2_ENST00000546211.1_Splice_Site|SKP2_ENST00000508514.1_Splice_Site|SKP2_ENST00000274254.5_Splice_Site	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTTTCCTAGATCTCTCTAC	0.313																																																1	Unknown(1)	ovary(1)	5											190	173	179					5																	36177066		2202	4299	6501	36212823	SO:0001630	splice_region_variant	6502			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.902-1G>C	5.37:g.36177066G>C			36212823	A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Splice_Site	SNP	ENST00000274255.6	37	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.403984	0.62288	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000508514;ENST00000546211	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9787	0.80089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKP2	36212823	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	5.936000	0.70153	2.504000	0.84457	0.557000	0.71058	.		0.313	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983	Intron	C	36177066	G	C	36177066	5	2	316	1	0	0	0	0	0	0	1	0	14365	956	33	3	931	3	SKP2	5	36177066	Splice_Site	SNP	G	TCGA-25-2400-01A-01W-0799-08		36177066	144738194	10	16861											
CMYA5	202333	broad.mit.edu	37	5	79033753	79033753	+	Silent	SNP	A	A	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr5:79033753A>G	ENST00000446378.2	+	2	9196	c.9165A>G	c.(9163-9165)aaA>aaG	p.K3055K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3055					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.K3055K(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATTTTGAAAAATATACTTTGA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	5											56	54	54					5																	79033753		1793	4055	5848	79069509	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9165A>G	5.37:g.79033753A>G			79069509	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.338	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79033753	A	G	79033753	2	3	316	1	0	0	0	0	0	0	0	1	3590	98	4	4		4	CMYA5	5	79033753	Silent	SNP	A	TCGA-25-2400-01A-01W-0799-08	42856687	79033753	101881507	11	16862											
ADAMTS19	171019	broad.mit.edu	37	5	129019833	129019833	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr5:129019833G>C	ENST00000274487.4	+	18	2812	c.2667G>C	c.(2665-2667)caG>caC	p.Q889H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	889	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q889H(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCAGGATCAGAATTATGGTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	5											150	144	146					5																	129019833		2203	4300	6503	129047732	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2667G>C	5.37:g.129019833G>C	ENSP00000274487:p.Gln889His		129047732		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248602	0.59103	.	.	ENSG00000145808	ENST00000274487	T	0.52526	0.66	4.42	2.57	0.30868	ADAM-TS Spacer 1 (1);	0.078771	0.51477	N	0.000098	T	0.57475	0.2056	L	0.52266	1.64	0.44862	D	0.997879	D	0.89917	1.0	D	0.74348	0.983	T	0.53746	-0.8395	9	.	.	.	.	10.018	0.42027	0.0768:0.1393:0.7839:0.0	.	889	Q8TE59	ATS19_HUMAN	H	889	ENSP00000274487:Q889H	.	Q	+	3	2	ADAMTS19	129047732	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.858000	0.48356	0.762000	0.33152	0.650000	0.86243	CAG		0.408	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		C	129019833	G	C	129019833	3	2	316	1	0	0	0	0	1	0	0	0	264	933	33	3	2737	3	ADAMTS19	5	129019833	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08	49986080	129019833	51895427	12	16863											
GFOD1	54438	broad.mit.edu	37	6	13365742	13365742	+	Missense_Mutation	SNP	C	C	T	rs369826547		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:13365742C>T	ENST00000379287.3	-	2	1070	c.406G>A	c.(406-408)Gag>Aag	p.E136K	GFOD1_ENST00000379284.1_Missense_Mutation_p.E33K	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	136						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.E136K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TAGCCCTCCTCGATCAGCTGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	6						C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	51	47	49		97,97,406	4.3	1	6		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GFOD1	NM_001242628.1,NM_001242630.1,NM_018988.3	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	33/288,33/288,136/391	13365742	1,13005	2203	4300	6503	13473721	SO:0001583	missense	54438			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.406G>A	6.37:g.13365742C>T	ENSP00000368589:p.Glu136Lys		13473721	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659788	0.29515	0.0	1.16E-4	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.44482	0.92;0.92	5.15	4.26	0.50523	Oxidoreductase, C-terminal (1);NAD(P)-binding domain (1);	0.107977	0.64402	D	0.000006	T	0.22627	0.0546	L	0.59436	1.845	0.48632	D	0.99968	B	0.12630	0.006	B	0.14023	0.01	T	0.05784	-1.0864	10	0.23302	T	0.38	-18.4433	11.6855	0.51483	0.0:0.6028:0.3972:0.0	.	136	Q9NXC2	GFOD1_HUMAN	K	136;33	ENSP00000368589:E136K;ENSP00000368586:E33K	ENSP00000368586:E33K	E	-	1	0	GFOD1	13473721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.025000	0.49681	2.377000	0.81083	0.650000	0.86243	GAG		0.637	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		T	13365742	C	T	13365742	3	4	316	1	0	0	0	0	1	0	0	0	6343	893	31	1	770	1	GFOD1	6	13365742	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08		13365742	157749325	13	16864											
IBTK	25998	broad.mit.edu	37	6	82924180	82924180	+	Silent	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:82924180G>A	ENST00000306270.7	-	12	2517	c.1968C>T	c.(1966-1968)aaC>aaT	p.N656N	IBTK_ENST00000510291.1_Silent_p.N656N|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	656					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.N656N(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATTCTTCTGGGTTTTTGTTTA	0.313																																																1	Substitution - coding silent(1)	ovary(1)	6											83	82	82					6																	82924180		2203	4299	6502	82980899	SO:0001819	synonymous_variant	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1968C>T	6.37:g.82924180G>A			82980899	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	CCDS34490.1																																																																																				0.313	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		A	82924180	G	A	82924180	2	1	316	1	0	0	0	0	0	0	0	1	7476	1252	44	2		2	IBTK	6	82924180	Silent	SNP	G	TCGA-25-2400-01A-01W-0799-08	69558438	82924180	88190887	14	16865											
EPHA7	2045	broad.mit.edu	37	6	93979277	93979277	+	Silent	SNP	A	A	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:93979277A>T	ENST00000369303.4	-	7	1735	c.1551T>A	c.(1549-1551)gcT>gcA	p.A517A		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	517	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.A517A(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGCAGTAAAAGCCCGAATCT	0.403																																																1	Substitution - coding silent(1)	ovary(1)	6											148	143	145					6																	93979277		2203	4299	6502	94035998	SO:0001819	synonymous_variant	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1551T>A	6.37:g.93979277A>T			94035998	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	CCDS5031.1																																																																																				0.403	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			T	93979277	A	T	93979277	2	4	316	1	0	0	0	0	0	0	0	1	5172	59	3	5		5	EPHA7	6	93979277	Silent	SNP	A	TCGA-25-2400-01A-01W-0799-08	11055097	93979277	77135790	15	16866											
POPDC3	64208	broad.mit.edu	37	6	105606438	105606438	+	Silent	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:105606438C>T	ENST00000254765.3	-	4	1061	c.783G>A	c.(781-783)cgG>cgA	p.R261R	BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|POPDC3_ENST00000474760.1_5'UTR	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	261					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.R261R(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGTTGGGTAGCCGAATATCAT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	6											134	133	133					6																	105606438		2203	4300	6503	105713131	SO:0001819	synonymous_variant	64208			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.783G>A	6.37:g.105606438C>T			105713131	B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	CCDS5052.1																																																																																				0.388	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		T	105606438	C	T	105606438	2	4	316	1	0	0	0	0	0	0	0	1	12256	726	26	2		2	POPDC3	6	105606438	Silent	SNP	C	TCGA-25-2400-01A-01W-0799-08	11627161	105606438	65508629	16	16867											
GJA1	2697	broad.mit.edu	37	6	121769073	121769073	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:121769073C>A	ENST00000282561.3	+	2	1237	c.1080C>A	c.(1078-1080)gaC>gaA	p.D360E		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	360					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.D360E(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCATTGTGGACCAGCGACCTT	0.493																																																1	Substitution - Missense(1)	ovary(1)	6											64	69	68					6																	121769073		2200	4295	6495	121810772	SO:0001583	missense	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.1080C>A	6.37:g.121769073C>A	ENSP00000282561:p.Asp360Glu		121810772	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973415	0.53614	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.86769	-2.17	4.75	1.95	0.26073	.	0.000000	0.64402	D	0.000001	T	0.81302	0.4794	L	0.27053	0.805	0.45580	D	0.998528	P	0.38767	0.646	P	0.56216	0.794	T	0.80623	-0.1300	10	0.54805	T	0.06	.	9.905	0.41370	0.0:0.7757:0.0:0.2243	.	360	P17302	CXA1_HUMAN	E	344;360	ENSP00000282561:D360E	ENSP00000282561:D360E	D	+	3	2	GJA1	121810772	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	0.553000	0.23391	0.302000	0.22762	0.484000	0.47621	GAC		0.493	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		A	121769073	C	A	121769073	3	1	316	1	0	0	0	0	1	0	0	0	6400	506	18	3	1082	3	GJA1	6	121769073	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08	16162635	121769073	49345994	17	16868											
STX11	8676	broad.mit.edu	37	6	144508227	144508227	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr6:144508227G>A	ENST00000367568.4	+	2	646	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	155					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.D155N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAAGCAGCGCGACAACTGCAA	0.622									Familial Hemophagocytic Lymphohistiocytosis																																							2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	6											47	45	46					6																	144508227		2203	4300	6503	144549920	SO:0001583	missense	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.463G>A	6.37:g.144508227G>A	ENSP00000356540:p.Asp155Asn		144549920	E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853927	0.71719	.	.	ENSG00000135604	ENST00000367568	T	0.22336	1.96	5.61	4.71	0.59529	t-SNARE (1);Syntaxin, N-terminal (1);	0.452872	0.26311	N	0.025117	T	0.10035	0.0246	L	0.46157	1.445	0.53005	D	0.999967	B	0.33238	0.403	B	0.20384	0.029	T	0.03278	-1.1053	10	0.72032	D	0.01	-10.834	15.8989	0.79356	0.0:0.1359:0.8641:0.0	.	155	O75558	STX11_HUMAN	N	155	ENSP00000356540:D155N	ENSP00000356540:D155N	D	+	1	0	STX11	144549920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.641000	0.67881	1.310000	0.45006	0.655000	0.94253	GAC		0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			A	144508227	G	A	144508227	3	1	316	1	0	0	0	0	1	0	0	0	15339	1058	37	1	465	1	STX11	6	144508227	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08	22739154	144508227	26606840	18	16869											
PKD1L1	168507	broad.mit.edu	37	7	47944083	47944083	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr7:47944083A>C	ENST00000289672.2	-	12	1873	c.1823T>G	c.(1822-1824)gTg>gGg	p.V608G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	608	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V608G(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCAAAGGCCACACTGGCATT	0.572																																																1	Substitution - Missense(1)	ovary(1)	7											104	81	88					7																	47944083		2203	4300	6503	47910608	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1823T>G	7.37:g.47944083A>C	ENSP00000289672:p.Val608Gly		47910608	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990972	0.74703	.	.	ENSG00000158683	ENST00000289672	T	0.70282	-0.47	5.12	5.12	0.69794	PKD/Chitinase domain (1);PKD domain (3);	0.633137	0.14598	N	0.309817	D	0.84880	0.5570	M	0.83953	2.67	0.53005	D	0.999966	D	0.89917	1.0	D	0.83275	0.996	D	0.85837	0.1395	10	0.87932	D	0	-25.2109	13.2066	0.59800	1.0:0.0:0.0:0.0	.	608	Q8TDX9	PK1L1_HUMAN	G	608	ENSP00000289672:V608G	ENSP00000289672:V608G	V	-	2	0	PKD1L1	47910608	0.994000	0.37717	0.497000	0.27552	0.881000	0.50899	4.162000	0.58177	2.082000	0.62665	0.477000	0.44152	GTG		0.572	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		C	47944083	A	C	47944083	3	2	316	1	0	0	0	0	1	0	0	0	11964	159	6	5	6910	5	PKD1L1	7	47944083	Missense_Mutation	SNP	A	TCGA-25-2400-01A-01W-0799-08		47944083	111194580	19	16870											
SAMD9L	219285	broad.mit.edu	37	7	92761213	92761213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr7:92761213C>A	ENST00000318238.4	-	5	5288	c.4072G>T	c.(4072-4074)Gaa>Taa	p.E1358*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E1358*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E1358*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1358					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.E1358*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTATACTTTCCATGGTGGTA	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	7											136	134	135					7																	92761213		2203	4300	6503	92599149	SO:0001587	stop_gained	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4072G>T	7.37:g.92761213C>A	ENSP00000326247:p.Glu1358*		92599149	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	49	15.501581	0.99836	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.342	18.5581	0.91091	0.0:1.0:0.0:0.0	.	.	.	.	X	1358;1358;1358;180	.	ENSP00000326247:E1358X	E	-	1	0	SAMD9L	92599149	0.998000	0.40836	0.998000	0.56505	0.103000	0.19146	0.934000	0.28910	2.716000	0.92895	0.467000	0.42956	GAA		0.393	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		A	92761213	C	A	92761213	4	1	316	1	0	0	0	0	0	1	0	0	13830	864	30	3	686	3	SAMD9L	7	92761213	Nonsense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08	44817130	92761213	66377450	20	16871											
EMID2	136227	broad.mit.edu	37	7	101196625	101196625	+	RNA	SNP	G	G	T	rs370309900		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr7:101196625G>T	ENST00000397927.3	+	0	1261				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.G350W(1)									TGGCGTGAAGGGGGAAGAAGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	7											74	95	88					7																	101196625		2151	4249	6400	100983345			136227			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101196625G>T			100983345	Q32M90	Missense_Mutation	SNP	ENST00000397927.3	37		.	.	.	.	.	.	.	.	.	.	G	14.77	2.633655	0.47049	.	.	ENSG00000160963	ENST00000313669	D	0.99637	-6.29	3.44	2.5	0.30297	.	0.981377	0.08269	N	0.971707	D	0.99711	0.9889	H	0.98199	4.17	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.59948	0.866;0.866	D	0.96294	0.9216	10	0.87932	D	0	.	7.92	0.29839	0.0:0.0:0.7536:0.2464	.	350;350	Q96A83;C9JPW4	EMID2_HUMAN;.	W	350	ENSP00000318234:G350W	ENSP00000318234:G350W	G	+	1	0	EMID2	100983345	0.989000	0.36119	0.023000	0.16930	0.301000	0.27625	2.321000	0.43805	0.504000	0.28082	0.655000	0.94253	GGG		0.622	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		T	101196625	G	T	101196625	1	4	316	0	1	0	0	0	0	0	0	0	5092	1232	43	3		3	EMID2	7	101196625	RNA	SNP	G	TCGA-25-2400-01A-01W-0799-08	8435412	101196625	57942038	21	16872											
ST18	9705	broad.mit.edu	37	8	53071594	53071594	+	Missense_Mutation	SNP	C	C	T	rs144331817	byFrequency	TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr8:53071594C>T	ENST00000276480.7	-	15	2353	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	557					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R557H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAGCTGGCACGGCCAGGGCT	0.522													C|||	20	0.00399361	0	0	5008	,	,		16719	0.0198		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	8						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97	103	101		1670	4.1	1	8	dbSNP_134	101	0,8600		0,0,4300	yes	missense	ST18	NM_014682.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	557/1048	53071594	1,13005	2203	4300	6503	53234147	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1670G>A	8.37:g.53071594C>T	ENSP00000276480:p.Arg557His		53234147	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	15	0.006868131868131868	0	0.0	0	0.0	15	0.026223776223776224	0	0.0	C	13.13	2.145494	0.37825	2.27E-4	0.0	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.48522	0.81;0.81	6.08	4.05	0.47172	Myelin transcription factor 1 (1);	0.212625	0.48767	N	0.000170	T	0.08223	0.0205	N	0.12471	0.22	0.33350	D	0.570999	B;B	0.19583	0.037;0.002	B;B	0.12837	0.008;0.002	T	0.15292	-1.0442	10	0.11794	T	0.64	-5.9118	5.4498	0.16556	0.0:0.571:0.0:0.429	.	557;557	E5RHS3;O60284	.;ST18_HUMAN	H	557	ENSP00000276480:R557H;ENSP00000428521:R557H	ENSP00000276480:R557H	R	-	2	0	ST18	53234147	1.000000	0.71417	0.986000	0.45419	0.962000	0.63368	0.743000	0.26231	1.328000	0.45358	0.655000	0.94253	CGT		0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			T	53071594	C	T	53071594	3	4	316	1	0	0	0	0	1	0	0	0	15214	536	19	1	1521	1	ST18	8	53071594	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08		53071594	93292428	22	16873											
ANKRD30A	91074	broad.mit.edu	37	10	37430974	37430974	+	Silent	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr10:37430974C>T	ENST00000602533.1	+	7	1080	c.981C>T	c.(979-981)atC>atT	p.I327I	ANKRD30A_ENST00000374660.1_Silent_p.I327I|ANKRD30A_ENST00000361713.1_Silent_p.I327I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	383					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I327I(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	10											113	112	112					10																	37430974		1840	4092	5932	37470980	SO:0001819	synonymous_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.981C>T	10.37:g.37430974C>T			37470980	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																					0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		T	37430974	C	T	37430974	2	4	316	1	0	0	0	0	0	0	0	1	658	874	31	1		1	ANKRD30A	10	37430974	Silent	SNP	C	TCGA-25-2400-01A-01W-0799-08		37430974	98103773	23	16874											
MADD	8567	broad.mit.edu	37	11	47333346	47333346	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr11:47333346G>C	ENST00000311027.5	+	29	4387	c.4222G>C	c.(4222-4224)Gtg>Ctg	p.V1408L	MADD_ENST00000406482.1_Missense_Mutation_p.V1306L|MADD_ENST00000342922.4_Missense_Mutation_p.V1349L|MADD_ENST00000405573.2_Missense_Mutation_p.V218L|MADD_ENST00000402192.2_Missense_Mutation_p.V1348L|MADD_ENST00000407859.3_Missense_Mutation_p.V1326L|MADD_ENST00000349238.3_Missense_Mutation_p.V1369L|MADD_ENST00000395344.3_Missense_Mutation_p.V1302L|MADD_ENST00000395336.3_Missense_Mutation_p.V1408L|MADD_ENST00000402799.1_Missense_Mutation_p.V1306L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.V1408L(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CATTGGGCTTGTGTACAGCCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											107	94	99					11																	47333346		2201	4298	6499	47289922	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4222G>C	11.37:g.47333346G>C	ENSP00000310933:p.Val1408Leu		47289922		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640834	0.47153	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.46063	3.45;3.31;3.32;3.44;3.45;3.32;3.32;3.45;3.45;0.88	5.14	4.23	0.50019	.	0.348813	0.29745	N	0.011313	T	0.29556	0.0737	L	0.27053	0.805	0.44956	D	0.997979	B;B;B;B;B;B;B;B;B;B;B	0.10296	0.003;0.001;0.001;0.0;0.0;0.001;0.002;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.14578	0.011;0.003;0.003;0.003;0.002;0.006;0.006;0.003;0.006;0.001;0.002	T	0.06303	-1.0834	10	0.41790	T	0.15	-8.9646	10.2108	0.43138	0.0724:0.0:0.7926:0.135	.	218;1302;1302;1408;1306;1306;1306;1369;1326;1408;1349	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	1349;1306;1306;1306;1369;1408;1326;1302;1408;1348;218	ENSP00000343902:V1349L;ENSP00000385585:V1306L;ENSP00000384435:V1306L;ENSP00000304505:V1369L;ENSP00000310933:V1408L;ENSP00000384204:V1326L;ENSP00000378753:V1302L;ENSP00000378745:V1408L;ENSP00000384287:V1348L;ENSP00000384483:V218L	ENSP00000310933:V1408L	V	+	1	0	MADD	47289922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.857000	0.48349	1.149000	0.42402	0.563000	0.77884	GTG		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			C	47333346	G	C	47333346	3	2	316	1	0	0	0	0	1	0	0	0	9152	1377	48	3	4332	3	MADD	11	47333346	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08		47333346	87673170	24	16875											
OR4C15	81309	broad.mit.edu	37	11	55322677	55322677	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr11:55322677G>C	ENST00000314644.2	+	1	895	c.895G>C	c.(895-897)Gtt>Ctt	p.V299L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V299L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCACATTGCTGTTGTGATTTT	0.423										HNSCC(20;0.049)																																						1	Substitution - Missense(1)	ovary(1)	11											243	234	237					11																	55322677		2201	4296	6497	55079253	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.895G>C	11.37:g.55322677G>C	ENSP00000324958:p.Val299Leu		55079253	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026795	0.54683	.	.	ENSG00000181939	ENST00000314644	T	0.00216	8.53	5.02	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	H	0.96748	3.875	0.22521	N	0.999025	P	0.51537	0.946	P	0.59595	0.86	T	0.22417	-1.0217	9	0.87932	D	0	.	8.7055	0.34351	0.1942:0.0:0.8058:0.0	.	245	Q8NGM1	OR4CF_HUMAN	L	299	ENSP00000324958:V299L	ENSP00000324958:V299L	V	+	1	0	OR4C15	55079253	0.000000	0.05858	0.698000	0.30274	0.649000	0.38597	0.692000	0.25482	0.662000	0.31006	0.385000	0.25706	GTT		0.423	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		C	55322677	G	C	55322677	3	2	316	1	0	0	0	0	1	0	0	0	11048	1377	48	3	897	3	OR4C15	11	55322677	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08	7989331	55322677	79683839	25	16876											
MTA2	9219	broad.mit.edu	37	11	62365832	62365832	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr11:62365832C>A	ENST00000278823.2	-	5	728	c.339G>T	c.(337-339)gaG>gaT	p.E113D	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	113	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E113D(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGATATCTGTCTCATTCAAGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											324	351	342					11																	62365832		2202	4299	6501	62122408	SO:0001583	missense	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.339G>T	11.37:g.62365832C>A	ENSP00000278823:p.Glu113Asp		62122408	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158001	0.78114	.	.	ENSG00000149480	ENST00000278823	D	0.84730	-1.89	5.73	2.75	0.32379	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	M	0.66506	2.035	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	D	0.84732	0.0746	10	0.28530	T	0.3	-24.407	7.4762	0.27378	0.0:0.6357:0.0:0.3643	.	113	O94776	MTA2_HUMAN	D	113	ENSP00000278823:E113D	ENSP00000278823:E113D	E	-	3	2	MTA2	62122408	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.626000	0.24492	0.727000	0.32360	0.655000	0.94253	GAG		0.522	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		A	62365832	C	A	62365832	3	1	316	1	0	0	0	0	1	0	0	0	9909	912	32	3	1723	3	MTA2	11	62365832	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08	7043155	62365832	72640684	26	16877											
GALNT6	11226	broad.mit.edu	37	12	51748228	51748228	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr12:51748228C>T	ENST00000543196.2	-	11	2009	c.1804G>A	c.(1804-1806)Gac>Aac	p.D602N	GALNT6_ENST00000356317.3_Missense_Mutation_p.D602N			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	602	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D602N(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTTTTTGTCCTGGGATGTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											91	84	87					12																	51748228		2203	4300	6503	50034495	SO:0001583	missense	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1804G>A	12.37:g.51748228C>T	ENSP00000444171:p.Asp602Asn		50034495	Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	8.594	0.885237	0.17540	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26373	1.74;1.74	4.18	1.35	0.21983	Ricin B-related lectin (1);Ricin B lectin (3);	0.343051	0.32868	N	0.005554	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	P	0.36086	0.536	B	0.36608	0.229	T	0.22208	-1.0223	10	0.17369	T	0.5	.	5.0895	0.14700	0.1663:0.6506:0.0:0.1831	.	602	Q8NCL4	GALT6_HUMAN	N	602;602;583	ENSP00000444171:D602N;ENSP00000348668:D602N	ENSP00000348668:D602N	D	-	1	0	GALNT6	50034495	0.000000	0.05858	0.024000	0.17045	0.487000	0.33371	0.410000	0.21098	0.306000	0.22856	0.561000	0.74099	GAC		0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		T	51748228	C	T	51748228	3	4	316	1	0	0	0	0	1	0	0	0	6217	855	30	2	68	2	GALNT6	12	51748228	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08		51748228	82103667	27	16878											
SMARCC2	6601	broad.mit.edu	37	12	56568498	56568498	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr12:56568498T>A	ENST00000267064.4	-	16	1519	c.1433A>T	c.(1432-1434)cAa>cTa	p.Q478L	SMARCC2_ENST00000550164.1_Missense_Mutation_p.Q478L|SMARCC2_ENST00000347471.4_Missense_Mutation_p.Q478L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Missense_Mutation_p.Q478L	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	478	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q478L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGATACTCTTGGGGGTTCAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											124	124	124					12																	56568498		2203	4300	6503	54854765	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1433A>T	12.37:g.56568498T>A	ENSP00000267064:p.Gln478Leu		54854765	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330146	0.81690	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.46819	0.88;0.89;0.86	4.15	4.15	0.48705	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.063541	0.64402	D	0.000006	T	0.54967	0.1891	L	0.33485	1.01	0.58432	D	0.999991	P;P;P;P;P	0.49559	0.925;0.908;0.925;0.925;0.908	D;P;D;D;P	0.65140	0.932;0.888;0.932;0.932;0.888	T	0.56872	-0.7907	10	0.54805	T	0.06	-4.2271	13.1349	0.59403	0.0:0.0:0.0:1.0	.	367;478;483;478;478	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	L	478	ENSP00000449396:Q478L;ENSP00000302919:Q478L;ENSP00000267064:Q478L	ENSP00000267064:Q478L	Q	-	2	0	SMARCC2	54854765	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.828000	0.86729	2.109000	0.64355	0.460000	0.39030	CAA		0.478	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			A	56568498	T	A	56568498	3	1	316	1	0	0	0	0	1	0	0	0	14779	1812	63	5	2360	5	SMARCC2	12	56568498	Missense_Mutation	SNP	T	TCGA-25-2400-01A-01W-0799-08	4820270	56568498	77283397	28	16879											
GPR109B	8843	broad.mit.edu	37	12	123200237	123200237	+	Missense_Mutation	SNP	C	C	T	rs201835480	byFrequency	TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr12:123200237C>T	ENST00000528880.2	-	1	1202	c.1048G>A	c.(1048-1050)Ggt>Agt	p.G350S	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	350			G -> S.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G350S(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	CATGGCTCACCGGAGTTGGCG	0.542													c|||	17	0.00339457	0.0129	0	5008	,	,		14630	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12						C	SER/GLY	27,4379	33.5+/-64.1	0,27,2176	65	73	70		1048	-6	0	12		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	HCAR3	NM_006018.2	56	0,28,6475	TT,TC,CC		0.0116,0.6128,0.2153	benign	350/388	123200237	28,12978	2203	4300	6503	121766190	SO:0001583	missense	8843			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1048G>A	12.37:g.123200237C>T	ENSP00000436714:p.Gly350Ser		121766190	A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	c	2.124	-0.400665	0.04865	0.006128	1.16E-4	ENSG00000255398	ENST00000528880	T	0.61274	0.12	2.99	-5.98	0.02220	.	.	.	.	.	T	0.21347	0.0514	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.11743	-1.0575	9	0.11794	T	0.64	.	5.9683	0.19338	0.2171:0.195:0.0:0.5878	.	350	E9PI97	.	S	350	ENSP00000436714:G350S	ENSP00000436714:G350S	G	-	1	0	HCAR3	121766190	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-3.613000	0.00414	-3.183000	0.00221	-1.206000	0.01644	GGT		0.542	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		T	123200237	C	T	123200237	3	4	316	1	0	0	0	0	1	0	0	0	6626	652	23	1	119	1	GPR109B	12	123200237	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08	66631739	123200237	10651658	29	16880											
NFATC4	4776	broad.mit.edu	37	14	24838789	24838789	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr14:24838789C>A	ENST00000250373.4	+	2	326	c.185C>A	c.(184-186)cCc>cAc	p.P62H	NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000556169.1_Missense_Mutation_p.P50H|NFATC4_ENST00000539237.2_Missense_Mutation_p.P94H|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Missense_Mutation_p.P94H|NFATC4_ENST00000555453.1_Missense_Mutation_p.P50H|NFATC4_ENST00000422617.3_Missense_Mutation_p.P50H|NFATC4_ENST00000553708.1_Missense_Mutation_p.P62H|NFATC4_ENST00000554966.1_Missense_Mutation_p.P75H|NFATC4_ENST00000554591.1_Missense_Mutation_p.P125H|NFATC4_ENST00000413692.2_Missense_Mutation_p.P125H|NFATC4_ENST00000555590.1_Missense_Mutation_p.P75H|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000424781.2_Missense_Mutation_p.P75H|NFATC4_ENST00000556279.1_Missense_Mutation_p.P94H|NFATC4_ENST00000554050.1_Missense_Mutation_p.P62H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	62	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)	p.P62H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ATCGGTATTCCCCGACCTCCA	0.672																																																1	Substitution - Missense(1)	ovary(1)	14											86	95	92					14																	24838789		2203	4300	6503	23908629	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.185C>A	14.37:g.24838789C>A	ENSP00000250373:p.Pro62His		23908629	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230355	0.58777	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000554779;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000556169;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77489	2.92;2.98;2.97;3.0;2.95;2.94;2.95;2.99;3.01;-1.1;2.98;2.96;1.65;2.77;2.71;2.75	3.62	3.62	0.41486	.	0.315475	0.25494	N	0.030284	T	0.72938	0.3523	L	0.57536	1.79	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16603	0.006;0.018;0.018;0.018;0.018;0.018;0.018;0.018;0.018;0.018;0.018;0.01;0.018;0.01	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20184	0.015;0.028;0.015;0.028;0.015;0.028;0.028;0.028;0.028;0.028;0.028;0.007;0.015;0.012	T	0.73965	-0.3816	10	0.87932	D	0	-4.5924	10.629	0.45525	0.0:1.0:0.0:0.0	.	50;50;94;94;75;75;75;125;125;50;94;39;125;62	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	125;125;75;75;75;94;94;94;62;62;62;62;62;39;50;50;50	ENSP00000388910:P125H;ENSP00000452039:P125H;ENSP00000451224:P75H;ENSP00000450644:P75H;ENSP00000388668:P75H;ENSP00000439350:P94H;ENSP00000452270:P94H;ENSP00000451502:P94H;ENSP00000451151:P62H;ENSP00000451992:P62H;ENSP00000250373:P62H;ENSP00000450590:P62H;ENSP00000452352:P39H;ENSP00000451454:P50H;ENSP00000396788:P50H;ENSP00000450686:P50H	ENSP00000250373:P62H	P	+	2	0	NFATC4	23908629	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	4.359000	0.59449	1.851000	0.53745	0.655000	0.94253	CCC		0.672	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		A	24838789	C	A	24838789	3	1	316	1	0	0	0	0	1	0	0	0	10365	623	22	3	384	3	NFATC4	14	24838789	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08		24838789	82510751	30	16881											
MGA	23269	broad.mit.edu	37	15	42052633	42052633	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr15:42052633G>A	ENST00000570161.1	+	19	7304	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	MGA_ENST00000219905.7_Missense_Mutation_p.R2435Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R2484Q(4)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCGGCGGCGGCGTGGTGAA	0.438																																																4	Substitution - Missense(4)	ovary(2)|large_intestine(1)|central_nervous_system(1)	15											109	111	110					15																	42052633		1900	4109	6009	39839925	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7304G>A	15.37:g.42052633G>A	ENSP00000457035:p.Arg2435Gln		39839925	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296335	0.95574	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.99722	-6.53;-6.53;-6.53	5.53	5.53	0.82687	.	0.000000	0.49305	D	0.000156	D	0.99711	0.9889	M	0.83223	2.63	0.31601	N	0.652706	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.978	D	0.97541	1.0086	10	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	1051;2226;2435	B4DVS1;F5H7K2;E7ENI0	.;.;.	Q	2435;2396;2226	ENSP00000219905:R2435Q;ENSP00000374586:R2396Q;ENSP00000442467:R2226Q	ENSP00000219905:R2435Q	R	+	2	0	MGA	39839925	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	CGG		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		A	42052633	G	A	42052633	3	1	316	1	0	0	0	0	1	0	0	0	9540	1116	39	1	7378	1	MGA	15	42052633	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08		42052633	60478759	31	16882											
DENND4A	10260	broad.mit.edu	37	15	66044814	66044814	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr15:66044814G>A	ENST00000431932.2	-	4	672	c.464C>T	c.(463-465)aCg>aTg	p.T155M	DENND4A_ENST00000443035.3_Missense_Mutation_p.T155M	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	155	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.T155M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GACAGCCAACGTATTCTGAGT	0.423																																																1	Substitution - Missense(1)	ovary(1)	15											102	93	96					15																	66044814		1876	4102	5978	63831868	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.464C>T	15.37:g.66044814G>A	ENSP00000396830:p.Thr155Met		63831868	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545356	0.86022	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.22743	1.94;1.94	5.05	5.05	0.67936	MABP domain (1);	0.244653	0.41500	D	0.000868	T	0.34890	0.0913	L	0.34521	1.04	0.80722	D	1	B;D;D	0.89917	0.054;1.0;0.997	B;P;P	0.61592	0.018;0.891;0.714	T	0.10776	-1.0615	10	0.72032	D	0.01	.	18.7679	0.91880	0.0:0.0:1.0:0.0	.	155;155;155	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	M	155	ENSP00000391167:T155M;ENSP00000396830:T155M	ENSP00000396830:T155M	T	-	2	0	DENND4A	63831868	1.000000	0.71417	0.698000	0.30274	0.746000	0.42486	7.928000	0.87587	2.479000	0.83701	0.655000	0.94253	ACG		0.423	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		A	66044814	G	A	66044814	3	1	316	1	0	0	0	0	1	0	0	0	4433	1145	40	1	5376	1	DENND4A	15	66044814	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08	23992181	66044814	36486578	32	16883											
SPAG7	9552	broad.mit.edu	37	17	4862933	4862933	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr17:4862933C>T	ENST00000206020.3	-	7	647	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	SPAG7_ENST00000573366.1_Missense_Mutation_p.V143M|SPAG7_ENST00000575142.1_3'UTR	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	194						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.V194M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TTATTGGCCACGGGCACTAGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											68	72	71					17																	4862933		2002	4170	6172	4803656	SO:0001583	missense	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.580G>A	17.37:g.4862933C>T	ENSP00000206020:p.Val194Met		4803656	Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443921	0.63067	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.26	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	L	0.51422	1.61	0.47276	D	0.999377	D	0.60575	0.988	P	0.48795	0.59	T	0.56086	-0.8037	9	0.52906	T	0.07	-9.3422	11.8753	0.52544	0.0:0.9156:0.0:0.0844	.	194	O75391	SPAG7_HUMAN	M	194	.	ENSP00000206020:V194M	V	-	1	0	SPAG7	4803656	0.998000	0.40836	0.934000	0.37439	0.967000	0.64934	3.849000	0.55910	1.464000	0.47987	0.650000	0.86243	GTG		0.607	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		T	4862933	C	T	4862933	3	4	316	1	0	0	0	0	1	0	0	0	14986	536	19	1	107	1	SPAG7	17	4862933	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08		4862933	76332277	33	16884											
TXNDC17	84817	broad.mit.edu	37	17	6546273	6546273	+	Silent	SNP	T	T	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr17:6546273T>G	ENST00000250101.5	+	4	631	c.306T>G	c.(304-306)ccT>ccG	p.P102P	TXNDC17_ENST00000577146.1_3'UTR|TXNDC17_ENST00000574838.1_Missense_Mutation_p.L77R|KIAA0753_ENST00000572370.1_5'Flank|KIAA0753_ENST00000361413.3_5'Flank|TXNDC17_ENST00000570330.1_Silent_p.P77P	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17	102	Thioredoxin.				oxidation-reduction process (GO:0055114)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|peroxidase activity (GO:0004601)|protein-disulfide reductase activity (GO:0047134)	p.P102P(1)		endometrium(1)|kidney(1)|ovary(1)	3						TCTTACAGCCTCAAAAACTGG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	17											139	125	129					17																	6546273		2203	4300	6503	6486997	SO:0001819	synonymous_variant	84817			BC006405	CCDS11077.1	17p13.2	2007-08-16	2007-08-16	2007-08-16	ENSG00000129235	ENSG00000129235			28218	protein-coding gene	gene with protein product	"thioredoxin (Trx)-related protein, 14 kDa"		"thioredoxin-like 5"	TXNL5		14607844, 14607843	Standard	NM_032731		Approved	MGC14353, TRP14	uc002gdf.4	Q9BRA2	OTTHUMG00000102053	ENST00000250101.5:c.306T>G	17.37:g.6546273T>G			6486997	A8K7E8	Silent	SNP	ENST00000250101.5	37	CCDS11077.1																																																																																				0.388	TXNDC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219854.2	NM_032731		G	6546273	T	G	6546273	2	3	316	1	0	0	0	0	0	0	0	1	16796	1538	54	5		5	TXNDC17	17	6546273	Silent	SNP	T	TCGA-25-2400-01A-01W-0799-08	1683340	6546273	74648937	34	16885											
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		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"	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	17	GRCh37	CS071266	TP53	S							80	75	77					17																	7578176		2203	4300	6503	7518901	SO:0001630	splice_region_variant	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.672+1G>T	17.37:g.7578176C>A			7518901	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578176	C	A	7578176	5	1	316	1	0	0	0	0	0	0	1	0	16381	521	18	3	621	3	TP53	17	7578176	Splice_Site	SNP	C	TCGA-25-2400-01A-01W-0799-08	1031903	7578176	73617034	35	16886											
MKS1	54903	broad.mit.edu	37	17	56283478	56283478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr17:56283478G>A	ENST00000393119.2	-	18	1716	c.1642C>T	c.(1642-1644)Cag>Tag	p.Q548*	MKS1_ENST00000313863.6_3'UTR|MKS1_ENST00000337050.7_Intron|MKS1_ENST00000537529.2_Nonsense_Mutation_p.Q538*|MKS1_ENST00000546108.1_Nonsense_Mutation_p.Q345*	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	548					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.Q548*(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACTAGGTCCTGCGGGAGGCTT	0.597																																																1	Substitution - Nonsense(1)	ovary(1)	17											24	28	27					17																	56283478		1912	4125	6037	53638477	SO:0001587	stop_gained	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1642C>T	17.37:g.56283478G>A	ENSP00000376827:p.Gln548*		53638477	B7WNX4|F5H885|Q284T0|Q96G13	Nonsense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784931	0.90282	.	.	ENSG00000011143	ENST00000537529;ENST00000393119;ENST00000546108	.	.	.	5.35	5.35	0.76521	.	0.181110	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-31.1611	17.8134	0.88623	0.0:0.0:1.0:0.0	.	.	.	.	X	538;548;345	.	ENSP00000376827:Q548X	Q	-	1	0	MKS1	53638477	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	2.918000	0.48829	2.788000	0.95919	0.555000	0.69702	CAG		0.597	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		A	56283478	G	A	56283478	4	1	316	1	0	0	0	0	0	1	0	0	9609	1328	46	2	41	2	MKS1	17	56283478	Nonsense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08	48705302	56283478	24911732	36	16887											
LAMA3	3909	broad.mit.edu	37	18	21402273	21402273	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr18:21402273A>C	ENST00000313654.9	+	20	2603	c.2362A>C	c.(2362-2364)Att>Ctt	p.I788L	LAMA3_ENST00000399516.3_Missense_Mutation_p.I788L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	788					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.I788L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTTTCGTGTTATTCTGAGATA	0.383																																																1	Substitution - Missense(1)	ovary(1)	18											127	118	121					18																	21402273		1886	4110	5996	19656271	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2362A>C	18.37:g.21402273A>C	ENSP00000324532:p.Ile788Leu		19656271	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811762	0.50527	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.17854	2.26;2.25	5.7	-1.41	0.08941	.	.	.	.	.	T	0.16642	0.0400	M	0.73598	2.24	0.80722	D	1	P;B	0.35433	0.501;0.441	B;B	0.30572	0.117;0.087	T	0.12889	-1.0530	9	0.27082	T	0.32	.	10.6457	0.45619	0.6546:0.0:0.3454:0.0	.	788;788	Q6VU67;Q16787	.;LAMA3_HUMAN	L	788;788;786	ENSP00000324532:I788L;ENSP00000382432:I788L	ENSP00000324532:I788L	I	+	1	0	LAMA3	19656271	1.000000	0.71417	0.314000	0.25224	0.792000	0.44763	1.123000	0.31308	-0.159000	0.11021	0.529000	0.55759	ATT		0.383	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		C	21402273	A	C	21402273	3	2	316	1	0	0	0	0	1	0	0	0	8607	449	16	5	2440	5	LAMA3	18	21402273	Missense_Mutation	SNP	A	TCGA-25-2400-01A-01W-0799-08		21402273	56674975	37	16888											
SCN1B	6324	broad.mit.edu	37	19	35524605	35524605	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr19:35524605G>A	ENST00000262631.5	+	3	547	c.410G>A	c.(409-411)aGc>aAc	p.S137N	CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000415950.3_Missense_Mutation_p.S137N|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	137	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)	p.S137N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CACAACACCAGCGTCGTCAAG	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											142	110	121					19																	35524605		2203	4300	6503	40216445	SO:0001583	missense	6324				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.410G>A	19.37:g.35524605G>A	ENSP00000262631:p.Ser137Asn		40216445	Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906473	0.33628	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.97959	-4.63;-2.25	4.22	3.14	0.36123	.	0.367235	0.28766	N	0.014203	D	0.92146	0.7510	N	0.05124	-0.11	0.28869	N	0.895048	B;B	0.32573	0.005;0.376	B;B	0.38755	0.001;0.281	D	0.86986	0.2107	10	0.15952	T	0.53	-43.5882	9.9562	0.41668	0.0:0.2069:0.7931:0.0	.	137;137	Q07699;Q07699-2	SCN1B_HUMAN;.	N	137	ENSP00000262631:S137N;ENSP00000396915:S137N	ENSP00000262631:S137N	S	+	2	0	SCN1B	40216445	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	0.276000	0.18716	1.087000	0.41251	0.484000	0.47621	AGC		0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			A	35524605	G	A	35524605	3	1	316	1	0	0	0	0	1	0	0	0	13918	971	34	2	420	2	SCN1B	19	35524605	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08		35524605	23604378	38	16889											
SBSN	374897	broad.mit.edu	37	19	36017693	36017693	+	Silent	SNP	C	C	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr19:36017693C>A	ENST00000452271.2	-	1	1519	c.1491G>T	c.(1489-1491)ggG>ggT	p.G497G	SBSN_ENST00000518157.1_Silent_p.G154G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	497	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G154G(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CATGGTTGACCCCTTGGCCAA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	19											122	100	108					19																	36017693		2203	4300	6503	40709533	SO:0001819	synonymous_variant	374897			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1491G>T	19.37:g.36017693C>A			40709533	A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	CCDS54253.1																																																																																				0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		A	36017693	C	A	36017693	2	1	316	1	0	0	0	0	0	0	0	1	13867	610	22	3		3	SBSN	19	36017693	Silent	SNP	C	TCGA-25-2400-01A-01W-0799-08	493088	36017693	23111290	39	16890											
ZFP28	140612	broad.mit.edu	37	19	57059204	57059204	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr19:57059204C>G	ENST00000301318.3	+	4	527	c.456C>G	c.(454-456)atC>atG	p.I152M	ZFP28_ENST00000591844.1_Missense_Mutation_p.I152M|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	152	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.I152M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCGATGTGATCTCCTCGTTGG	0.512																																					Ovarian(124;554 1662 19430 21141 52494)											1	Substitution - Missense(1)	ovary(1)	19											206	191	196					19																	57059204		2203	4300	6503	61751016	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.456C>G	19.37:g.57059204C>G	ENSP00000301318:p.Ile152Met		61751016	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543653	0.45280	.	.	ENSG00000196867	ENST00000301318	T	0.00912	5.55	4.01	1.79	0.24919	Krueppel-associated box (3);	0.000000	0.40064	N	0.001188	T	0.05914	0.0154	M	0.93016	3.37	0.20196	N	0.999929	D;D	0.89917	0.997;1.0	D;D	0.91635	0.916;0.999	T	0.07770	-1.0755	10	0.66056	D	0.02	.	6.7212	0.23330	0.0:0.7756:0.0:0.2244	.	152;152	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	M	152	ENSP00000301318:I152M	ENSP00000301318:I152M	I	+	3	3	ZFP28	61751016	0.769000	0.28531	0.369000	0.25952	0.855000	0.48748	0.642000	0.24735	0.442000	0.26555	-0.251000	0.11542	ATC		0.512	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		G	57059204	C	G	57059204	3	3	316	1	0	0	0	0	1	0	0	0	17642	903	32	3	470	3	ZFP28	19	57059204	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08	21041511	57059204	2069779	40	16891											
ADA	100	broad.mit.edu	37	20	43251493	43251493	+	Missense_Mutation	SNP	G	G	A	rs201944717		TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chr20:43251493G>A	ENST00000372874.4	-	8	891	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000537820.1_Missense_Mutation_p.R229W|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	253					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)	p.R253W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TTTTCCTGCCGCAGCCTGTTA	0.577									Adenosine Deaminase Deficiency				G|||	1	0.000199681	0	0	5008	,	,		19292	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	20											117	123	121					20																	43251493		2203	4300	6503	42684907	SO:0001583	missense	100	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.757C>T	20.37:g.43251493G>A	ENSP00000361965:p.Arg253Trp		42684907	Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	37	CCDS13335.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.16	3.774231	0.69992	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.96745	-4.11;-4.11	5.18	3.05	0.35203	Adenosine/AMP deaminase (1);	0.605679	0.17470	N	0.173133	D	0.96358	0.8812	M	0.81942	2.565	0.27523	N	0.951321	D	0.71674	0.998	P	0.51999	0.687	D	0.91818	0.5465	10	0.62326	D	0.03	-20.6714	7.4687	0.27336	0.0795:0.0:0.5231:0.3974	.	253	P00813	ADA_HUMAN	W	253;229	ENSP00000361965:R253W;ENSP00000441818:R229W	ENSP00000361965:R253W	R	-	1	2	ADA	42684907	0.075000	0.21258	0.576000	0.28549	0.856000	0.48823	0.754000	0.26390	1.144000	0.42321	0.462000	0.41574	CGG		0.577	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		A	43251493	G	A	43251493	3	1	316	1	0	0	0	0	1	0	0	0	230	1086	38	1	354	1	ADA	20	43251493	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08		43251493	19774027	41	16892											
CTPS2	56474	broad.mit.edu	37	X	16696534	16696534	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:16696534C>T	ENST00000443824.1	-	10	1788	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	CTPS2_ENST00000380241.3_Missense_Mutation_p.E349K|CTPS2_ENST00000359276.4_Missense_Mutation_p.E349K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	349	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.E349K(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACAGGGTCCTCGGTTTCAGTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											117	90	99					X																	16696534		2203	4300	6503	16606455	SO:0001583	missense	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1045G>A	X.37:g.16696534C>T	ENSP00000401264:p.Glu349Lys		16606455	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.168074	0.21621	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276;ENST00000380207	T;T;T	0.43688	0.94;0.94;0.94	5.86	1.73	0.24493	Glutamine amidotransferase type 1 (2);	0.295685	0.32671	N	0.005789	T	0.31482	0.0798	L	0.39566	1.225	0.53688	D	0.999975	B	0.16603	0.018	B	0.13407	0.009	T	0.07790	-1.0754	10	0.38643	T	0.18	-12.9396	10.3428	0.43889	0.0:0.5578:0.3702:0.072	.	349	Q9NRF8	PYRG2_HUMAN	K	349;349;349;15	ENSP00000401264:E349K;ENSP00000369590:E349K;ENSP00000352222:E349K	ENSP00000352222:E349K	E	-	1	0	CTPS2	16606455	0.997000	0.39634	0.376000	0.26042	0.152000	0.21847	3.600000	0.54052	0.193000	0.20303	0.594000	0.82650	GAG		0.403	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		T	16696534	C	T	16696534	3	4	316	1	0	0	0	0	1	0	0	0	4023	893	31	1	751	1	CTPS2	23	16696534	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08		16696534	138574026	42	16893											
WAS	7454	broad.mit.edu	37	X	48547366	48547366	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:48547366C>T	ENST00000376701.4	+	10	1324	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	417					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)	p.P417S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCACTCCCTCCTGCTCTGGT	0.697			"Mis, N, F, S"			lymphoma																																	X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	1	Substitution - Missense(1)	ovary(1)	X											5	5	5					X																	48547366		2058	3987	6045	48432310	SO:0001583	missense	7454			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1249C>T	X.37:g.48547366C>T	ENSP00000365891:p.Pro417Ser		48432310	Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	C	9.344	1.063771	0.20067	.	.	ENSG00000015285	ENST00000376701	D	0.99771	-6.71	4.7	3.84	0.44239	.	0.000000	0.53938	D	0.000049	D	0.97763	0.9266	N	0.08118	0	0.34550	D	0.711205	B	0.12013	0.005	B	0.10450	0.005	D	0.99976	1.2200	10	0.19590	T	0.45	-1.5963	10.0883	0.42432	0.0:0.897:0.0:0.103	.	417	P42768	WASP_HUMAN	S	417	ENSP00000365891:P417S	ENSP00000365891:P417S	P	+	1	0	WAS	48432310	0.038000	0.19896	0.453000	0.27007	0.175000	0.22909	1.413000	0.34725	0.911000	0.36747	0.464000	0.42555	CCT		0.697	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		T	48547366	C	T	48547366	3	4	316	1	0	0	0	0	1	0	0	0	17251	855	30	2	1287	2	WAS	23	48547366	Missense_Mutation	SNP	C	TCGA-25-2400-01A-01W-0799-08	31850832	48547366	106723194	43	16894											
NONO	4841	broad.mit.edu	37	X	70514365	70514365	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:70514365T>C	ENST00000276079.8	+	5	842	c.637T>C	c.(637-639)Ttc>Ctc	p.F213L	NONO_ENST00000373841.1_Missense_Mutation_p.F213L|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Missense_Mutation_p.F124L|NONO_ENST00000373856.3_Missense_Mutation_p.F213L	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	213	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F213L(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGAAGGCTCCTTCCTGCTAAC	0.488			T	TFE3	papillary renal cancer																																		Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	1	Substitution - Missense(1)	ovary(1)	X											42	35	37					X																	70514365		2203	4300	6503	70431090	SO:0001583	missense	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.637T>C	X.37:g.70514365T>C	ENSP00000276079:p.Phe213Leu		70431090	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	t	18.37	3.609526	0.66558	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.21031	2.04;2.03;2.03;2.03	4.87	4.87	0.63330	RNA recognition motif domain (2);	0.109449	0.64402	D	0.000005	T	0.18964	0.0455	N	0.25890	0.77	0.80722	D	1	B	0.26672	0.156	B	0.33799	0.17	T	0.05920	-1.0856	10	0.49607	T	0.09	-4.7764	13.7303	0.62783	0.0:0.0:0.0:1.0	.	213	Q15233	NONO_HUMAN	L	124;213;213;213	ENSP00000441364:F124L;ENSP00000276079:F213L;ENSP00000362963:F213L;ENSP00000362947:F213L	ENSP00000276079:F213L	F	+	1	0	NONO	70431090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.939000	0.70179	1.816000	0.52996	0.430000	0.28490	TTC		0.488	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		C	70514365	T	C	70514365	3	2	316	1	0	0	0	0	1	0	0	0	10534	1609	56	4	647	4	NONO	23	70514365	Missense_Mutation	SNP	T	TCGA-25-2400-01A-01W-0799-08	21966999	70514365	84756195	44	16895											
DACH2	117154	broad.mit.edu	37	X	85950139	85950139	+	Silent	SNP	T	T	A			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:85950139T>A	ENST00000373125.4	+	5	888	c.888T>A	c.(886-888)gcT>gcA	p.A296A	DACH2_ENST00000510272.1_Silent_p.A77A|DACH2_ENST00000508860.1_Silent_p.A129A|DACH2_ENST00000373131.1_Silent_p.A283A	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	296					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A296A(1)|p.A283A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TTGGGGGTGCTCCAACCCTCA	0.498																																																2	Substitution - coding silent(2)	ovary(2)	X											63	47	52					X																	85950139		2203	4300	6503	85836795	SO:0001819	synonymous_variant	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.888T>A	X.37:g.85950139T>A			85836795	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	CCDS14455.1																																																																																				0.498	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		A	85950139	T	A	85950139	2	1	316	1	0	0	0	0	0	0	0	1	4221	1538	54	5		5	DACH2	23	85950139	Silent	SNP	T	TCGA-25-2400-01A-01W-0799-08	15435774	85950139	69320421	45	16896											
FMR1NB	158521	broad.mit.edu	37	X	147090191	147090191	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2400-01A-01W-0799-08	TCGA-25-2400-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	adb8f8a4-e295-4f73-b2c3-ab19b7c23818	91399754-6480-4f3a-b1a7-20aa32880519	g.chrX:147090191G>C	ENST00000370467.3	+	4	666	c.592G>C	c.(592-594)Gta>Cta	p.V198L	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	198						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.V198L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTATCCTGGTATGTCTGCC	0.393																																																1	Substitution - Missense(1)	ovary(1)	X											238	175	196					X																	147090191		2203	4300	6503	146897883	SO:0001583	missense	158521				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.592G>C	X.37:g.147090191G>C	ENSP00000359498:p.Val198Leu		146897883	D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	G	0.141	-1.102304	0.01828	.	.	ENSG00000176988	ENST00000370467	T	0.29142	1.58	5.64	5.64	0.86602	.	0.380104	0.19337	N	0.116742	T	0.14227	0.0344	N	0.08118	0	0.26795	N	0.969317	B	0.31290	0.318	B	0.28638	0.092	T	0.11591	-1.0581	10	0.02654	T	1	-8.9887	13.9726	0.64250	0.0:0.0:1.0:0.0	.	198	Q8N0W7	FMR1N_HUMAN	L	198	ENSP00000359498:V198L	ENSP00000359498:V198L	V	+	1	0	FMR1NB	146897883	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.686000	0.61700	2.371000	0.80710	0.544000	0.68410	GTA		0.393	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		C	147090191	G	C	147090191	3	2	316	1	0	0	0	0	1	0	0	0	5961	1261	44	3	606	3	FMR1NB	23	147090191	Missense_Mutation	SNP	G	TCGA-25-2400-01A-01W-0799-08	61140052	147090191	8180369	46	16897											
STXBP3	6814	broad.mit.edu	37	1	109301195	109301195	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr1:109301195A>G	ENST00000370008.3	+	5	372	c.322A>G	c.(322-324)Att>Gtt	p.I108V		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	108	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)	p.I108V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AGCAGCATATATTTACTTCAC	0.284																																																1	Substitution - Missense(1)	ovary(1)	1											43	51	48					1																	109301195		2199	4277	6476	109102718	SO:0001583	missense	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.322A>G	1.37:g.109301195A>G	ENSP00000359025:p.Ile108Val		109102718	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	2.332	-0.353058	0.05173	.	.	ENSG00000116266	ENST00000370008	T	0.79554	-1.28	5.42	-4.36	0.03645	.	0.301640	0.35495	N	0.003179	T	0.15782	0.0380	N	0.01454	-0.855	0.26853	N	0.96812	B	0.02656	0.0	B	0.06405	0.002	T	0.43814	-0.9368	10	0.02654	T	1	-3.4145	1.6333	0.02737	0.2984:0.3631:0.0998:0.2387	.	108	O00186	STXB3_HUMAN	V	108	ENSP00000359025:I108V	ENSP00000359025:I108V	I	+	1	0	STXBP3	109102718	0.994000	0.37717	0.855000	0.33649	0.971000	0.66376	0.473000	0.22132	-0.630000	0.05567	0.383000	0.25322	ATT		0.284	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		G	109301195	A	G	109301195	3	3	317	1	0	0	0	0	1	0	0	0	15356	449	16	4	340	4	STXBP3	1	109301195	Missense_Mutation	SNP	A	TCGA-25-2401-01A-01W-0799-08		109301195	139949426	1	16898											
SELP	6403	broad.mit.edu	37	1	169566334	169566334	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr1:169566334A>T	ENST00000263686.6	-	11	1823	c.1786T>A	c.(1786-1788)Tcc>Acc	p.S596T	SELP_ENST00000367786.2_Missense_Mutation_p.S534T|SELP_ENST00000367793.2_Missense_Mutation_p.S534T|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.S534T|SELP_ENST00000367788.2_Missense_Mutation_p.S534T|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	596	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.S596T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TGGCAGGTGGAGCCAACATTG	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											67	68	68					1																	169566334		2203	4300	6503	167832958	SO:0001583	missense	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1786T>A	1.37:g.169566334A>T	ENSP00000263686:p.Ser596Thr		167832958	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570453	0.45798	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.13	3.95	0.45737	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.52532	D	0.000080	T	0.59128	0.2171	L	0.52206	1.635	0.80722	D	1	D;D;P	0.63046	0.992;0.985;0.633	P;P;B	0.62649	0.832;0.905;0.324	T	0.61647	-0.7020	10	0.45353	T	0.12	-23.7836	8.2581	0.31769	0.8242:0.0:0.0:0.1758	.	596;596;596	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	T	596;595;596;596;534;534;534;534;519	ENSP00000263686:S596T;ENSP00000356767:S534T;ENSP00000356768:S534T;ENSP00000356762:S534T;ENSP00000356760:S534T	ENSP00000263686:S596T	S	-	1	0	SELP	167832958	0.944000	0.32072	0.983000	0.44433	0.193000	0.23685	0.728000	0.26013	1.900000	0.55004	0.528000	0.53228	TCC		0.498	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		T	169566334	A	T	169566334	3	4	317	1	0	0	0	0	1	0	0	0	14022	304	11	5	730	5	SELP	1	169566334	Missense_Mutation	SNP	A	TCGA-25-2401-01A-01W-0799-08	60265139	169566334	79684287	2	16899											
RYR2	6262	broad.mit.edu	37	1	237811894	237811894	+	Missense_Mutation	SNP	C	C	T	rs374191985		TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr1:237811894C>T	ENST00000366574.2	+	49	7810	c.7493C>T	c.(7492-7494)gCg>gTg	p.A2498V	RYR2_ENST00000360064.6_Missense_Mutation_p.A2496V|RYR2_ENST00000542537.1_Missense_Mutation_p.A2482V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2498	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A2496V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATCTCCGGGCGGCTGCTTCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	1						C	VAL/ALA	1,3805		0,1,1902	69	63	65		7493	4.7	1	1		65	1,8225		0,1,4112	no	missense	RYR2	NM_001035.2	64	0,2,6014	TT,TC,CC		0.0122,0.0263,0.0166	possibly-damaging	2498/4968	237811894	2,12030	1903	4113	6016	235878517	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7493C>T	1.37:g.237811894C>T	ENSP00000355533:p.Ala2498Val		235878517	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086307	0.94100	2.63E-4	1.22E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.89810	-2.57;-2.57;-2.57	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000013	D	0.94899	0.8351	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.95573	0.8640	10	0.87932	D	0	-13.5883	18.5983	0.91236	0.0:1.0:0.0:0.0	.	2498	Q92736	RYR2_HUMAN	V	2498;2496;2482	ENSP00000355533:A2498V;ENSP00000353174:A2496V;ENSP00000443798:A2482V	ENSP00000353174:A2496V	A	+	2	0	RYR2	235878517	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.776000	0.85560	2.563000	0.86464	0.655000	0.94253	GCG		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237811894	C	T	237811894	3	4	317	1	0	0	0	0	1	0	0	0	13772	768	27	1	7687	1	RYR2	1	237811894	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	68245560	237811894	11438727	3	16900											
LTBP1	4052	broad.mit.edu	37	2	33590523	33590523	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr2:33590523G>A	ENST00000404816.2	+	31	5017	c.4664G>A	c.(4663-4665)gGa>gAa	p.G1555E	LTBP1_ENST00000418533.2_Missense_Mutation_p.G1187E|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1556E|LTBP1_ENST00000404525.1_Missense_Mutation_p.G1176E|LTBP1_ENST00000402934.1_Missense_Mutation_p.G1174E|LTBP1_ENST00000272273.5_Missense_Mutation_p.G453E|LTBP1_ENST00000390003.4_Missense_Mutation_p.G1230E|LTBP1_ENST00000407925.1_Missense_Mutation_p.G1229E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1555	TB 4.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G1556E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTCTGTATGGAGAGGCCTGG	0.537																																																1	Substitution - Missense(1)	ovary(1)	2											114	107	110					2																	33590523		2203	4300	6503	33444027	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4664G>A	2.37:g.33590523G>A	ENSP00000386043:p.Gly1555Glu		33444027	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	31	5.079442	0.94050	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	5.52	5.52	0.82312	Matrix fibril-associated (3);TGF-beta binding (1);	.	.	.	.	D	0.98883	0.9622	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D	0.99572	1.0971	9	0.87932	D	0	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	453;1555;1187;1176;1229;1230;1556	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	E	1555;1556;1230;1187;1174;1176;1229;453	ENSP00000386043:G1555E;ENSP00000346467:G1556E;ENSP00000374653:G1230E;ENSP00000393057:G1187E;ENSP00000384373:G1174E;ENSP00000385359:G1176E;ENSP00000384091:G1229E;ENSP00000272273:G453E	ENSP00000272273:G453E	G	+	2	0	LTBP1	33444027	1.000000	0.71417	0.901000	0.35422	0.987000	0.75469	9.756000	0.98918	2.597000	0.87782	0.655000	0.94253	GGA		0.537	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		A	33590523	G	A	33590523	3	1	317	1	0	0	0	0	1	0	0	0	9073	1174	41	2	4841	2	LTBP1	2	33590523	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08		33590523	209608850	4	16901											
SLC20A1	6574	broad.mit.edu	37	2	113414816	113414816	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr2:113414816A>T	ENST00000272542.3	+	6	1315	c.776A>T	c.(775-777)gAa>gTa	p.E259V	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	259					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.E259V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGAAAAATTGAACGTAAGTAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											115	115	115					2																	113414816		2203	4300	6503	113131287	SO:0001583	missense	6574				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.776A>T	2.37:g.113414816A>T	ENSP00000272542:p.Glu259Val		113131287	Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.32|16.32	3.089883|3.089883	0.55968|0.55968	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000272542;ENST00000409095|ENST00000433924	D|.	0.91068|.	-2.78|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.136165|.	0.64402|.	D|.	0.000004|.	T|.	0.58750|.	0.2144|.	L|L	0.39147|0.39147	1.195|1.195	0.58432|0.58432	D|D	0.99999|0.99999	B;B|.	0.29955|.	0.263;0.263|.	B;B|.	0.33121|.	0.158;0.158|.	T|.	0.55685|.	-0.8102|.	10|.	0.29301|.	T|.	0.29|.	-26.9741|-26.9741	14.0542|14.0542	0.64756|0.64756	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	259;259|.	A7LNJ1;Q8WUM9|.	.;S20A1_HUMAN|.	V|C	259;71|84	ENSP00000272542:E259V|.	ENSP00000272542:E259V|.	E|X	+|+	2|3	0|0	SLC20A1|SLC20A1	113131287|113131287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.187000|7.187000	0.77730|0.77730	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.378	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		T	113414816	A	T	113414816	3	4	317	1	0	0	0	0	1	0	0	0	14441	246	9	5	794	5	SLC20A1	2	113414816	Missense_Mutation	SNP	A	TCGA-25-2401-01A-01W-0799-08	79824293	113414816	129784557	5	16902											
OLA1	29789	broad.mit.edu	37	2	175006591	175006591	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr2:175006591C>G	ENST00000409546.1	-	5	1201	c.571G>C	c.(571-573)Gct>Cct	p.A191P	OLA1_ENST00000428402.2_Missense_Mutation_p.A171P|OLA1_ENST00000284719.3_Missense_Mutation_p.A171P|OLA1_ENST00000344357.5_Missense_Mutation_p.A13P					Obg-like ATPase 1									p.A171P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCTCTCACAGCCACCTTTTCT	0.303																																																1	Substitution - Missense(1)	ovary(1)	2											92	91	91					2																	175006591		2203	4299	6502	174714837	SO:0001583	missense	29789				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.571G>C	2.37:g.175006591C>G	ENSP00000386350:p.Ala191Pro		174714837		Missense_Mutation	SNP	ENST00000409546.1	37		.	.	.	.	.	.	.	.	.	.	C	16.70	3.196030	0.58126	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000428402;ENST00000409546;ENST00000429575	T;T;T;T	0.49720	2.16;2.16;0.77;2.16	5.72	5.72	0.89469	TGS-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.82716	2.605	0.80722	D	1	B;B;B;B	0.28258	0.205;0.022;0.003;0.022	B;B;B;B	0.27170	0.077;0.076;0.023;0.076	T	0.59915	-0.7364	10	0.66056	D	0.02	.	19.8622	0.96787	0.0:1.0:0.0:0.0	.	171;171;13;171	Q9NTK5-3;D7EHM2;Q9NTK5-2;Q9NTK5	.;.;.;OLA1_HUMAN	P	171;13;171;191;13	ENSP00000284719:A171P;ENSP00000340167:A13P;ENSP00000410385:A171P;ENSP00000386350:A191P	ENSP00000284719:A171P	A	-	1	0	OLA1	174714837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.691000	0.91804	0.591000	0.81541	GCT		0.303	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		G	175006591	C	G	175006591	3	3	317	1	0	0	0	0	1	0	0	0	10850	739	26	3	707	3	OLA1	2	175006591	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	61591775	175006591	68192782	6	16903											
ANKRD44	91526	broad.mit.edu	37	2	197878307	197878307	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr2:197878307C>G	ENST00000328737.2	-	18	1853	c.1777G>C	c.(1777-1779)Gcg>Ccg	p.A593P	ANKRD44_ENST00000282272.8_Missense_Mutation_p.A610P|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A593P|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A593P			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	618								p.A593P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGATAAGCGCTTCCACACAT	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											221	209	213					2																	197878307		2203	4300	6503	197586552	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1777G>C	2.37:g.197878307C>G	ENSP00000331516:p.Ala593Pro		197586552	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	C	19.96	3.922618	0.73213	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.43	4.43	0.53597	.	0.060668	0.64402	D	0.000003	T	0.79209	0.4407	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80096	-0.1525	10	0.41790	T	0.15	.	17.2648	0.87083	0.0:1.0:0.0:0.0	.	636	Q8N8A2-2	.	P	433;610;593;593;593;293	ENSP00000403415:A433P;ENSP00000282272:A610P;ENSP00000331516:A593P;ENSP00000402420:A593P;ENSP00000338794:A593P;ENSP00000416319:A293P	ENSP00000282272:A610P	A	-	1	0	ANKRD44	197586552	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.024000	0.49674	2.294000	0.77228	0.655000	0.94253	GCG		0.507	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		G	197878307	C	G	197878307	3	3	317	1	0	0	0	0	1	0	0	0	672	797	28	3	1018	3	ANKRD44	2	197878307	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	22871716	197878307	45321066	7	16904											
SP140	11262	broad.mit.edu	37	2	231175500	231175500	+	Silent	SNP	G	G	C			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr2:231175500G>C	ENST00000392045.3	+	24	2331	c.2217G>C	c.(2215-2217)ccG>ccC	p.P739P	SP140_ENST00000350136.5_Silent_p.P608P|SP140_ENST00000417495.3_Silent_p.P625P|SP140_ENST00000420434.3_Silent_p.P712P|SP140_ENST00000486687.2_Silent_p.P663P|SP140_ENST00000343805.6_Silent_p.P679P	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	739					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P739P(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGTCTCCGGGAAGCCAAC	0.537																																																1	Substitution - coding silent(1)	ovary(1)	2											7	7	7					2																	231175500		1767	3995	5762	230883744	SO:0001819	synonymous_variant	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2217G>C	2.37:g.231175500G>C			230883744	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	CCDS42831.1																																																																																				0.537	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		C	231175500	G	C	231175500	2	2	317	1	0	0	0	0	0	0	0	1	14965	1103	39	3		3	SP140	2	231175500	Silent	SNP	G	TCGA-25-2401-01A-01W-0799-08	33297193	231175500	12023873	8	16905											
EFHB	151651	broad.mit.edu	37	3	19921292	19921292	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr3:19921292G>A	ENST00000295824.9	-	13	2494	c.2333C>T	c.(2332-2334)gCa>gTa	p.A778V	EFHB_ENST00000344838.4_Missense_Mutation_p.A648V	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	778							calcium ion binding (GO:0005509)	p.A778V(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CAATATCTCTGCAATCTAGAA	0.289																																																1	Substitution - Missense(1)	ovary(1)	3											111	109	110					3																	19921292		2203	4300	6503	19896296	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2333C>T	3.37:g.19921292G>A	ENSP00000295824:p.Ala778Val		19896296	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356215	0.61293	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.24538	3.16;1.85	5.57	3.74	0.42951	.	0.537720	0.19138	N	0.121749	T	0.24314	0.0589	M	0.61703	1.905	0.26814	N	0.968949	B;P	0.36222	0.047;0.544	B;B	0.33392	0.037;0.163	T	0.08973	-1.0696	9	.	.	.	-0.6437	9.482	0.38906	0.0677:0.0:0.6774:0.2548	.	648;778	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	V	778;648	ENSP00000295824:A778V;ENSP00000342263:A648V	.	A	-	2	0	EFHB	19896296	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	3.607000	0.54102	0.677000	0.31305	0.655000	0.94253	GCA		0.289	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		A	19921292	G	A	19921292	3	1	317	1	0	0	0	0	1	0	0	0	4945	1319	46	2	172	2	EFHB	3	19921292	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08		19921292	178101138	9	16906											
CLDN18	51208	broad.mit.edu	37	3	137717848	137717848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr3:137717848C>A	ENST00000343735.4	+	1	272	c.138C>A	c.(136-138)taC>taA	p.Y46*		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	46					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A91D(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TTTTCAACTACCAGGGGCTGT	0.587																																																1	Substitution - Missense(1)	ovary(1)	3											109	100	103					3																	137717848		2203	4300	6503	139200538	SO:0001587	stop_gained	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.138C>A	3.37:g.137717848C>A	ENSP00000340939:p.Tyr46*		139200538	A5PL21|Q96PH4	Nonsense_Mutation	SNP	ENST00000343735.4	37	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	C	36	5.932889	0.97116	.	.	ENSG00000066405	ENST00000343735	.	.	.	4.28	0.462	0.16695	.	0.075151	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	9.8274	0.40921	0.0:0.7035:0.0:0.2964	.	.	.	.	X	46	.	ENSP00000340939:Y46X	Y	+	3	2	CLDN18	139200538	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.364000	0.34171	0.196000	0.20367	0.563000	0.77884	TAC		0.587	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		A	137717848	C	A	137717848	4	1	317	1	0	0	0	0	0	1	0	0	3479	518	18	3	140	3	CLDN18	3	137717848	Nonsense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	117796556	137717848	60304582	10	16907											
TLR6	10333	broad.mit.edu	37	4	38829758	38829758	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr4:38829758C>G	ENST00000381950.1	-	1	1402	c.1337G>C	c.(1336-1338)aGa>aCa	p.R446T	TLR6_ENST00000436693.2_Missense_Mutation_p.R446T			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	446					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R446T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGTAAACATCTGAAAACAGA	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											119	128	125					4																	38829758		2203	4300	6503	38506153	SO:0001583	missense	10333				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1337G>C	4.37:g.38829758C>G	ENSP00000371376:p.Arg446Thr		38506153	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684241	0.47991	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.51817	0.69;0.69	5.14	5.14	0.70334	.	0.229670	0.39020	N	0.001495	T	0.47303	0.1438	M	0.65975	2.015	0.30697	N	0.750666	B	0.21309	0.054	B	0.25987	0.065	T	0.55786	-0.8086	10	0.87932	D	0	.	10.2453	0.43336	0.0:0.8708:0.0:0.1292	.	446	Q9Y2C9	TLR6_HUMAN	T	446	ENSP00000389600:R446T;ENSP00000371376:R446T	ENSP00000371376:R446T	R	-	2	0	TLR6	38506153	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.521000	0.45563	2.392000	0.81423	0.484000	0.47621	AGA		0.363	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			G	38829758	C	G	38829758	3	3	317	1	0	0	0	0	1	0	0	0	15955	913	32	3	1057	3	TLR6	4	38829758	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08		38829758	152324518	11	16908											
FGA	2243	broad.mit.edu	37	4	155506887	155506887	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr4:155506887G>T	ENST00000302053.3	-	5	1772	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H	FGA_ENST00000403106.3_Missense_Mutation_p.P565H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	565					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.P565H(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCTATCCCAGGGTGATGAGA	0.433																																					NSCLC(143;340 1922 20892 22370 48145)											1	Substitution - Missense(1)	ovary(1)	4											94	91	92					4																	155506887		2203	4300	6503	155726337	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1694C>A	4.37:g.155506887G>T	ENSP00000306361:p.Pro565His		155726337	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	2.541	-0.306281	0.05458	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.56275	0.47;2.92	4.46	-1.41	0.08941	.	20.600900	0.00166	N	0.000000	T	0.35278	0.0926	N	0.24115	0.695	0.09310	N	1	B;B	0.33448	0.412;0.07	B;B	0.34385	0.181;0.06	T	0.09618	-1.0666	10	0.13108	T	0.6	.	4.6513	0.12596	0.5887:0.1533:0.2579:0.0	.	565;565	P02671-2;P02671	.;FIBA_HUMAN	H	565	ENSP00000306361:P565H;ENSP00000385981:P565H	ENSP00000306361:P565H	P	-	2	0	FGA	155726337	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.636000	0.24644	-0.131000	0.11578	-0.768000	0.03414	CCT		0.433	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		T	155506887	G	T	155506887	3	4	317	1	0	0	0	0	1	0	0	0	5830	1000	35	3	958	3	FGA	4	155506887	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08	116677129	155506887	35647389	12	16909											
PAIP1	10605	broad.mit.edu	37	5	43539094	43539094	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr5:43539094C>A	ENST00000306846.3	-	5	1010	c.778G>T	c.(778-780)Gat>Tat	p.D260Y	PAIP1_ENST00000436644.2_Missense_Mutation_p.D181Y|PAIP1_ENST00000338972.4_Missense_Mutation_p.D148Y|PAIP1_ENST00000514514.1_Missense_Mutation_p.D181Y	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	260	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.D260Y(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GTAACTTCATCCCCTTTTGCA	0.323																																																1	Substitution - Missense(1)	ovary(1)	5											157	149	151					5																	43539094		2203	4300	6503	43574851	SO:0001583	missense	10605			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.778G>T	5.37:g.43539094C>A	ENSP00000302768:p.Asp260Tyr		43574851	A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937812	0.92458	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.98	5.98	0.97165	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.56848	-0.7911	10	0.87932	D	0	-31.1594	20.4561	0.99145	0.0:1.0:0.0:0.0	.	181;260;181	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	Y	260;181;148;181;148;148	ENSP00000302768:D260Y;ENSP00000387729:D181Y;ENSP00000339622:D148Y;ENSP00000425084:D181Y;ENSP00000425675:D148Y;ENSP00000425736:D148Y	ENSP00000302768:D260Y	D	-	1	0	PAIP1	43574851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.597000	0.67577	2.847000	0.97988	0.591000	0.81541	GAT		0.323	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		A	43539094	C	A	43539094	3	1	317	1	0	0	0	0	1	0	0	0	11396	855	30	3	689	3	PAIP1	5	43539094	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08		43539094	137376166	13	16910											
ITGA1	3672	broad.mit.edu	37	5	52183670	52183670	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr5:52183670G>A	ENST00000282588.6	+	8	1255	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	266	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.R266Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACGGAAGCCCGGGGTGCCCGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	5											92	94	93					5																	52183670		2203	4300	6503	52219427	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.797G>A	5.37:g.52183670G>A	ENSP00000282588:p.Arg266Gln		52219427	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804229	0.90623	.	.	ENSG00000213949	ENST00000282588	D	0.83506	-1.73	5.91	5.03	0.67393	von Willebrand factor, type A (3);	0.123359	0.52532	D	0.000064	T	0.68659	0.3025	N	0.25245	0.725	0.52099	D	0.99994	P	0.38020	0.615	B	0.32090	0.14	T	0.66748	-0.5845	10	0.25751	T	0.34	.	10.8405	0.46712	0.0749:0.1331:0.792:0.0	.	266	P56199	ITA1_HUMAN	Q	266	ENSP00000282588:R266Q	ENSP00000282588:R266Q	R	+	2	0	ITGA1	52219427	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.992000	0.63889	1.493000	0.48517	0.655000	0.94253	CGG		0.398	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		A	52183670	G	A	52183670	3	1	317	1	0	0	0	0	1	0	0	0	7872	1116	39	1	827	1	ITGA1	5	52183670	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08	8644576	52183670	128731590	14	16911											
SKIV2L2	23517	broad.mit.edu	37	5	54693247	54693247	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr5:54693247G>C	ENST00000230640.5	+	20	2439	c.2185G>C	c.(2185-2187)Gtc>Ctc	p.V729L	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.V628L	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	729					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V729L(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GTCATAGGTTGTCCCAGTTTT	0.383																																					Melanoma(2;92 134 23744 29976 33782)											1	Substitution - Missense(1)	ovary(1)	5											154	145	148					5																	54693247		2203	4300	6503	54729004	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2185G>C	5.37:g.54693247G>C	ENSP00000230640:p.Val729Leu		54729004	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154385	0.78114	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.34859	1.34;1.39	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	M	0.87971	2.92	0.80722	D	1	B;P	0.45396	0.122;0.857	B;P	0.45406	0.081;0.479	T	0.64123	-0.6481	10	0.62326	D	0.03	-18.3469	19.2769	0.94034	0.0:0.0:1.0:0.0	.	628;729	F5H7E2;P42285	.;SK2L2_HUMAN	L	729;628	ENSP00000230640:V729L;ENSP00000442583:V628L	ENSP00000230640:V729L	V	+	1	0	SKIV2L2	54729004	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.414000	0.80117	2.636000	0.89361	0.655000	0.94253	GTC		0.383	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			C	54693247	G	C	54693247	3	2	317	1	0	0	0	0	1	0	0	0	14363	1377	48	3	2263	3	SKIV2L2	5	54693247	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08	2509577	54693247	126222013	15	16912											
IL3	3562	broad.mit.edu	37	5	131398379	131398379	+	Silent	SNP	C	C	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr5:131398379C>A	ENST00000296870.2	+	5	532	c.354C>A	c.(352-354)atC>atA	p.I118I		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	118					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)	p.I118I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CAATCCATATCAAGGACGGTG	0.498											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	5											146	143	144					5																	131398379		2203	4300	6503	131426278	SO:0001819	synonymous_variant	3562			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"Interleukins and interleukin receptors"	6011	protein-coding gene	gene with protein product	"multilineage-colony-stimulating factor", "hematopoietic growth factor", "P-cell stimulating factor", "mast-cell growth factor", "colony-stimulating factor, multiple"	147740	"interleukin 3 (colony-stimulating factor, multiple)"			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.354C>A	5.37:g.131398379C>A		1587	131426278	Q6GS87	Silent	SNP	ENST00000296870.2	37	CCDS4149.1																																																																																				0.498	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588		A	131398379	C	A	131398379	2	1	317	1	0	0	0	0	0	0	0	1	7689	816	29	3		3	IL3	5	131398379	Silent	SNP	C	TCGA-25-2401-01A-01W-0799-08	76705132	131398379	49516881	16	16913											
PCDHB14	56122	broad.mit.edu	37	5	140603463	140603463	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr5:140603463A>T	ENST00000239449.4	+	1	386	c.386A>T	c.(385-387)cAc>cTc	p.H129L	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.H129L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAAATGATCACTCCCCTACA	0.418																																					Ovarian(141;50 1831 27899 33809 37648)											1	Substitution - Missense(1)	ovary(1)	5											76	84	82					5																	140603463		2203	4300	6503	140583647	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.386A>T	5.37:g.140603463A>T	ENSP00000239449:p.His129Leu		140583647	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	21.2	4.108516	0.77096	.	.	ENSG00000120327	ENST00000239449	T	0.20738	2.05	4.92	4.92	0.64577	Cadherin (1);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.54711	0.1875	H	0.97265	3.97	0.80722	D	1	D	0.52996	0.957	P	0.54401	0.751	T	0.73190	-0.4061	9	0.87932	D	0	.	14.5321	0.67934	1.0:0.0:0.0:0.0	.	129	Q9Y5E9	PCDBE_HUMAN	L	129	ENSP00000239449:H129L	ENSP00000239449:H129L	H	+	2	0	PCDHB14	140583647	0.990000	0.36364	0.991000	0.47740	0.991000	0.79684	9.079000	0.94032	1.971000	0.57363	0.528000	0.53228	CAC		0.418	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		T	140603463	A	T	140603463	3	4	317	1	0	0	0	0	1	0	0	0	11539	159	6	5	388	5	PCDHB14	5	140603463	Missense_Mutation	SNP	A	TCGA-25-2401-01A-01W-0799-08	9205084	140603463	40311797	17	16914											
ANKS1A	23294	broad.mit.edu	37	6	34950588	34950588	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr6:34950588A>C	ENST00000360359.3	+	5	930	c.792A>C	c.(790-792)caA>caC	p.Q264H	ANKS1A_ENST00000535627.1_Missense_Mutation_p.Q264H	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	264					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.Q264H(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATGTGGTGCAAATCCTGCTGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	6											158	126	137					6																	34950588		2203	4300	6503	35058566	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.792A>C	6.37:g.34950588A>C	ENSP00000353518:p.Gln264His		35058566	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587815	0.46110	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;T	0.64618	-0.11;-0.11	5.85	4.67	0.58626	Ankyrin repeat-containing domain (3);	0.000000	0.47852	D	0.000209	T	0.59224	0.2178	L	0.43646	1.37	0.39985	D	0.974977	D;D	0.71674	0.984;0.998	P;D	0.83275	0.827;0.996	T	0.65179	-0.6231	10	0.59425	D	0.04	-3.821	7.192	0.25831	0.7789:0.1478:0.0733:0.0	.	264;264	B4DQW8;Q92625	.;ANS1A_HUMAN	H	264	ENSP00000353518:Q264H;ENSP00000438752:Q264H	ENSP00000353518:Q264H	Q	+	3	2	ANKS1A	35058566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.234000	0.51320	1.014000	0.39417	0.533000	0.62120	CAA		0.557	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		C	34950588	A	C	34950588	3	2	317	1	0	0	0	0	1	0	0	0	688	11	1	5	810	5	ANKS1A	6	34950588	Missense_Mutation	SNP	A	TCGA-25-2401-01A-01W-0799-08		34950588	136164479	18	16915											
KLC4	89953	broad.mit.edu	37	6	43039324	43039324	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr6:43039324G>C	ENST00000394056.2	+	11	1770	c.1275G>C	c.(1273-1275)tgG>tgC	p.W425C	KLC4_ENST00000259708.3_Missense_Mutation_p.W443C|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000394058.1_Missense_Mutation_p.W425C|KLC4_ENST00000479388.1_Missense_Mutation_p.W425C|KLC4_ENST00000347162.5_Missense_Mutation_p.W425C|KLC4_ENST00000453940.2_Missense_Mutation_p.W348C			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	425						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.W425C(1)		endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCCCATCTGGATGCATGCAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	6											69	69	69					6																	43039324		2203	4300	6503	43147302	SO:0001583	missense	89953			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1275G>C	6.37:g.43039324G>C	ENSP00000377620:p.Trp425Cys		43147302	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658858	0.67586	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.80994	-1.41;-1.37;-1.44;-1.41;-1.41;-1.41	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000016	D	0.89853	0.6835	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.91635	0.876;0.999;0.997	D	0.87789	0.2617	10	0.38643	T	0.18	-18.9835	20.1236	0.97970	0.0:0.0:1.0:0.0	.	348;443;425	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	C	425;348;443;425;425;425	ENSP00000340221:W425C;ENSP00000395806:W348C;ENSP00000259708:W443C;ENSP00000418031:W425C;ENSP00000377620:W425C;ENSP00000377622:W425C	ENSP00000259708:W443C	W	+	3	0	KLC4	43147302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.858000	0.99539	2.765000	0.95021	0.555000	0.69702	TGG		0.602	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		C	43039324	G	C	43039324	3	2	317	1	0	0	0	0	1	0	0	0	8336	1183	41	3	1436	3	KLC4	6	43039324	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08	8088736	43039324	128075743	19	16916											
SP4	6671	broad.mit.edu	37	7	21470026	21470026	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr7:21470026C>G	ENST00000222584.3	+	3	1461	c.1243C>G	c.(1243-1245)Cag>Gag	p.Q415E		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	415					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q415E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GCCTCAGCAACAGATCATTCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											110	111	111					7																	21470026		2203	4300	6503	21436551	SO:0001583	missense	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1243C>G	7.37:g.21470026C>G	ENSP00000222584:p.Gln415Glu		21436551	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179168	0.57800	.	.	ENSG00000105866	ENST00000222584	T	0.15603	2.41	4.68	4.68	0.58851	.	0.279919	0.37304	N	0.002158	T	0.39733	0.1089	M	0.74647	2.275	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.13388	-1.0511	10	0.38643	T	0.18	.	17.7858	0.88538	0.0:1.0:0.0:0.0	.	415	Q02446	SP4_HUMAN	E	415	ENSP00000222584:Q415E	ENSP00000222584:Q415E	Q	+	1	0	SP4	21436551	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.539000	0.67199	2.426000	0.82243	0.467000	0.42956	CAG		0.468	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		G	21470026	C	G	21470026	3	3	317	1	0	0	0	0	1	0	0	0	14969	479	17	3	1253	3	SP4	7	21470026	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08		21470026	137668637	20	16917											
HOXA1	3198	broad.mit.edu	37	7	27135134	27135134	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr7:27135134C>T	ENST00000343060.4	-	1	459	c.398G>A	c.(397-399)gGa>gAa	p.G133E	HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_Intron|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	133					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G133E(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAGAGATTTCCAGAGTAAAC	0.567																																																1	Substitution - Missense(1)	ovary(1)	7											74	78	77					7																	27135134		2203	4300	6503	27101659	SO:0001583	missense	3198				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.398G>A	7.37:g.27135134C>T	ENSP00000343246:p.Gly133Glu		27101659	A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311849	0.81358	.	.	ENSG00000105991	ENST00000343060	T	0.32753	1.44	4.88	4.88	0.63580	.	0.245352	0.40064	N	0.001189	T	0.57007	0.2024	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61302	-0.7090	10	0.72032	D	0.01	.	16.9571	0.86262	0.0:1.0:0.0:0.0	.	133	P49639	HXA1_HUMAN	E	133	ENSP00000343246:G133E	ENSP00000343246:G133E	G	-	2	0	HOXA1	27101659	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.843000	0.75384	2.543000	0.85770	0.462000	0.41574	GGA		0.567	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			T	27135134	C	T	27135134	3	4	317	1	0	0	0	0	1	0	0	0	7288	855	30	2	617	2	HOXA1	7	27135134	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	5665108	27135134	132003529	21	16918											
NEUROD6	63974	broad.mit.edu	37	7	31378207	31378207	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr7:31378207C>G	ENST00000297142.3	-	2	998	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	226					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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 positive regulation of transcription (GO:0001077)	p.D226H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTGGAATTATCAAGAGTCCCA	0.532																																																1	Substitution - Missense(1)	ovary(1)	7											106	90	95					7																	31378207		2203	4300	6503	31344732	SO:0001583	missense	63974			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.676G>C	7.37:g.31378207C>G	ENSP00000297142:p.Asp226His		31344732	Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419677	0.42918	.	.	ENSG00000164600	ENST00000297142	T	0.64260	-0.09	5.32	5.32	0.75619	Neurogenic differentiation factor, domain of unknown function (1);	0.222347	0.45126	D	0.000400	T	0.67135	0.2861	M	0.62723	1.935	0.80722	D	1	P	0.41345	0.746	B	0.43809	0.432	T	0.70831	-0.4765	10	0.59425	D	0.04	-14.595	19.0046	0.92844	0.0:1.0:0.0:0.0	.	226	Q96NK8	NDF6_HUMAN	H	226	ENSP00000297142:D226H	ENSP00000297142:D226H	D	-	1	0	NEUROD6	31344732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.572000	0.67411	2.481000	0.83766	0.650000	0.86243	GAT		0.532	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		G	31378207	C	G	31378207	3	3	317	1	0	0	0	0	1	0	0	0	10351	826	29	3	341	3	NEUROD6	7	31378207	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	4243073	31378207	127760456	22	16919											
BCL7B	9275	broad.mit.edu	37	7	72966511	72966511	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr7:72966511T>A	ENST00000223368.2	-	2	577	c.154A>T	c.(154-156)Aca>Tca	p.T52S	BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Missense_Mutation_p.T52S	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	52							actin binding (GO:0003779)	p.T52S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGCTGTCTGTCACAGGAACC	0.388																																																1	Substitution - Missense(1)	ovary(1)	7											112	110	110					7																	72966511		2203	4300	6503	72604447	SO:0001583	missense	9275			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.154A>T	7.37:g.72966511T>A	ENSP00000223368:p.Thr52Ser		72604447	A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Missense_Mutation	SNP	ENST00000223368.2	37	CCDS5550.1	.	.	.	.	.	.	.	.	.	.	t	14.53	2.562033	0.45590	.	.	ENSG00000106635	ENST00000223368;ENST00000411832	T	0.42900	0.96	4.83	3.65	0.41850	.	0.234553	0.41294	D	0.000914	T	0.24353	0.0590	N	0.11064	0.09	0.27916	N	0.938447	P;B	0.38617	0.64;0.072	B;B	0.40602	0.334;0.067	T	0.08722	-1.0708	10	0.35671	T	0.21	.	9.1027	0.36678	0.0:0.0947:0.0:0.9053	.	52;52	C9JWD3;Q9BQE9	.;BCL7B_HUMAN	S	52	ENSP00000223368:T52S	ENSP00000223368:T52S	T	-	1	0	BCL7B	72604447	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.691000	0.37721	1.925000	0.55765	0.378000	0.23410	ACA		0.388	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252194.1	NM_001707		A	72966511	T	A	72966511	3	1	317	1	0	0	0	0	1	0	0	0	1379	1667	58	5	474	5	BCL7B	7	72966511	Missense_Mutation	SNP	T	TCGA-25-2401-01A-01W-0799-08	41588304	72966511	86172152	23	16920											
KIAA1324L	222223	broad.mit.edu	37	7	86544109	86544109	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr7:86544109G>T	ENST00000450689.2	-	13	1846	c.1661C>A	c.(1660-1662)aCc>aAc	p.T554N	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T387N|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T554N|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T314N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	554						integral component of membrane (GO:0016021)		p.T314N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GATGATATGGGTGTAAGCTTG	0.318																																																1	Substitution - Missense(1)	ovary(1)	7											202	173	183					7																	86544109		2203	4300	6503	86382045	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1661C>A	7.37:g.86544109G>T	ENSP00000413445:p.Thr554Asn		86382045	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.595586|4.595586	0.86953|0.86953	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	.|T;T;T;T	.|0.20200	.|2.37;2.15;2.09;2.12	5.95|5.95	5.06|5.06	0.68205|0.68205	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44973|0.44973	0.1319|0.1319	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.59767	.|0.986;0.928;0.928	.|P;P;P	.|0.61201	.|0.885;0.55;0.55	T|T	0.48364|0.48364	-0.9042|-0.9042	5|10	.|0.62326	.|D	.|0.03	.|.	16.2363|16.2363	0.82377|0.82377	0.0:0.1329:0.8671:0.0|0.0:0.1329:0.8671:0.0	.|.	.|554;314;387	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	Q|N	514|554;314;554;387	.|ENSP00000413445:T554N;ENSP00000297222:T314N;ENSP00000397377:T554N;ENSP00000402390:T387N	.|ENSP00000297222:T314N	H|T	-|-	3|2	2|0	KIAA1324L|KIAA1324L	86382045|86382045	1.000000|1.000000	0.71417|0.71417	0.432000|0.432000	0.26747|0.26747	0.990000|0.990000	0.78478|0.78478	9.150000|9.150000	0.94667|0.94667	1.497000|1.497000	0.48584|0.48584	0.563000|0.563000	0.77884|0.77884	CAC|ACC		0.318	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		T	86544109	G	T	86544109	3	4	317	1	0	0	0	0	1	0	0	0	8224	1261	44	3	1468	3	KIAA1324L	7	86544109	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08	13577598	86544109	72594554	24	16921											
CROT	54677	broad.mit.edu	37	7	87027959	87027959	+	Nonstop_Mutation	SNP	A	A	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr7:87027959A>G	ENST00000331536.3	+	18	2023	c.1838A>G	c.(1837-1839)tAg>tGg	p.*613W	CROT_ENST00000419147.2_Nonstop_Mutation_p.*641W	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	0					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.*613W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACTCATCTTTAGAGATGAATC	0.398																																																1	Nonstop extension(1)	ovary(1)	7											86	79	81					7																	87027959		2203	4300	6503	86865895	SO:0001578	stop_lost	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1838A>G	7.37:g.87027959A>G	ENSP00000331981:p.*613Trpext*2		86865895	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Nonstop_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430178	0.62844	.	.	ENSG00000005469	ENST00000419147;ENST00000331536	.	.	.	6.08	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0503	0.53503	0.933:0.0:0.067:0.0	.	.	.	.	W	641;613	.	.	X	+	2	0	CROT	86865895	1.000000	0.71417	0.999000	0.59377	0.807000	0.45602	8.095000	0.89535	1.117000	0.41842	0.533000	0.62120	TAG		0.398	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		G	87027959	A	G	87027959	4	3	317	1	0	0	0	0	0	0	0	0	3894	433	15	4	1988	4	CROT	7	87027959	Nonstop_Mutation	SNP	A	TCGA-25-2401-01A-01W-0799-08	483850	87027959	72110704	25	16922											
ZNF804B	219578	broad.mit.edu	37	7	88965092	88965092	+	Silent	SNP	A	A	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr7:88965092A>G	ENST00000333190.4	+	4	3405	c.2796A>G	c.(2794-2796)gtA>gtG	p.V932V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	932							metal ion binding (GO:0046872)	p.V932V(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAGAAAGAGTACAAGCCAAGA	0.408										HNSCC(36;0.09)																																						1	Substitution - coding silent(1)	ovary(1)	7											116	123	121					7																	88965092		2202	4300	6502	88803028	SO:0001819	synonymous_variant	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2796A>G	7.37:g.88965092A>G			88803028	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	CCDS5613.1																																																																																				0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		G	88965092	A	G	88965092	2	3	317	1	0	0	0	0	0	0	0	1	18171	378	14	4		4	ZNF804B	7	88965092	Silent	SNP	A	TCGA-25-2401-01A-01W-0799-08	1937133	88965092	70173571	26	16923											
DLX5	1749	broad.mit.edu	37	7	96653817	96653817	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr7:96653817G>C	ENST00000222598.4	-	1	592	c.119C>G	c.(118-120)tCt>tGt	p.S40C	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.S40C	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	40					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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 positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.S40C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGTAGCTGAAGACTCGGGCAA	0.597																																																1	Substitution - Missense(1)	ovary(1)	7											54	58	56					7																	96653817		2203	4300	6503	96491753	SO:0001583	missense	1749				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"Homeoboxes / ANTP class : NKL subclass"	2918	protein-coding gene	gene with protein product		600028	"distal-less homeo box 5"			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.119C>G	7.37:g.96653817G>C	ENSP00000222598:p.Ser40Cys		96491753	B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442207	0.83993	.	.	ENSG00000105880	ENST00000222598	D	0.90504	-2.68	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96798	0.9587	10	0.87932	D	0	-8.6267	18.2087	0.89863	0.0:0.0:1.0:0.0	.	40;40	B7Z4P3;P56178	.;DLX5_HUMAN	C	40	ENSP00000222598:S40C	ENSP00000222598:S40C	S	-	2	0	DLX5	96491753	1.000000	0.71417	0.958000	0.39756	0.839000	0.47603	9.564000	0.98151	2.526000	0.85167	0.561000	0.74099	TCT		0.597	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			C	96653817	G	C	96653817	3	2	317	1	0	0	0	0	1	0	0	0	4574	942	33	3	762	3	DLX5	7	96653817	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08	7688725	96653817	62484846	27	16924											
ABCA1	19	broad.mit.edu	37	9	107599275	107599275	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr9:107599275T>A	ENST00000374736.3	-	11	1691	c.1297A>T	c.(1297-1299)Atg>Ttg	p.M433L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	433					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.M433L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACAAGGTCCATTTCTTGGCTG	0.522																																																1	Substitution - Missense(1)	ovary(1)	9											140	104	116					9																	107599275		2203	4300	6503	106639096	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1297A>T	9.37:g.107599275T>A	ENSP00000363868:p.Met433Leu		106639096	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535493	0.64972	.	.	ENSG00000165029	ENST00000374736	D	0.84730	-1.89	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.85243	0.5652	M	0.80847	2.515	0.80722	D	1	B	0.20780	0.048	B	0.16289	0.015	T	0.81848	-0.0744	10	0.25751	T	0.34	.	15.7204	0.77705	0.0:0.0:0.0:1.0	.	433	O95477	ABCA1_HUMAN	L	433	ENSP00000363868:M433L	ENSP00000363868:M433L	M	-	1	0	ABCA1	106639096	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.810000	0.62598	2.170000	0.68504	0.533000	0.62120	ATG		0.522	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		A	107599275	T	A	107599275	3	1	317	1	0	0	0	0	1	0	0	0	28	1493	52	5	5648	5	ABCA1	9	107599275	Missense_Mutation	SNP	T	TCGA-25-2401-01A-01W-0799-08		107599275	33614156	28	16925											
USP20	10868	broad.mit.edu	37	9	132632056	132632056	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr9:132632056C>T	ENST00000315480.4	+	14	1656	c.1498C>T	c.(1498-1500)Cca>Tca	p.P500S	USP20_ENST00000372429.3_Missense_Mutation_p.P500S|USP20_ENST00000358355.1_Missense_Mutation_p.P500S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	500	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P500S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCCGGCCAAGCCAGGCGCCTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	9											64	67	66					9																	132632056		1925	4116	6041	131671877	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1498C>T	9.37:g.132632056C>T	ENSP00000313811:p.Pro500Ser		131671877	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	1.263	-0.615399	0.03663	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.16457	2.34;2.34;2.34	4.84	3.95	0.45737	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.294826	0.40222	N	0.001143	T	0.08626	0.0214	N	0.25094	0.71	0.33786	D	0.624921	B	0.02656	0.0	B	0.10450	0.005	T	0.19516	-1.0303	10	0.11485	T	0.65	.	4.0476	0.09779	0.1712:0.5955:0.1459:0.0874	.	500	Q9Y2K6	UBP20_HUMAN	S	500	ENSP00000361506:P500S;ENSP00000313811:P500S;ENSP00000351122:P500S	ENSP00000313811:P500S	P	+	1	0	USP20	131671877	0.999000	0.42202	0.993000	0.49108	0.467000	0.32768	0.921000	0.28718	1.402000	0.46780	0.655000	0.94253	CCA		0.607	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			T	132632056	C	T	132632056	3	4	317	1	0	0	0	0	1	0	0	0	17052	739	26	2	1544	2	USP20	9	132632056	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	25032781	132632056	8581375	29	16926											
ANAPC2	29882	broad.mit.edu	37	9	140074648	140074648	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr9:140074648C>A	ENST00000323927.2	-	10	1879	c.1875G>T	c.(1873-1875)aaG>aaT	p.K625N		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	625					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.K625N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCTGCTCATACTTCTTGCAGT	0.627																																																1	Substitution - Missense(1)	ovary(1)	9											78	68	71					9																	140074648		2203	4300	6503	139194469	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1875G>T	9.37:g.140074648C>A	ENSP00000314004:p.Lys625Asn		139194469	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945756	0.34377	.	.	ENSG00000176248	ENST00000323927	T	0.73897	-0.79	4.51	3.37	0.38596	Cullin, N-terminal (1);Cullin homology (3);	0.138131	0.48767	D	0.000166	T	0.62600	0.2441	L	0.40543	1.245	0.44380	D	0.997283	B;B	0.18166	0.026;0.021	B;B	0.20384	0.029;0.017	T	0.57470	-0.7806	10	0.22109	T	0.4	-36.8419	10.714	0.46002	0.0:0.8823:0.0:0.1177	.	625;622	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	N	625	ENSP00000314004:K625N	ENSP00000314004:K625N	K	-	3	2	ANAPC2	139194469	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	1.088000	0.30877	2.058000	0.61347	0.313000	0.20887	AAG		0.627	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		A	140074648	C	A	140074648	3	1	317	1	0	0	0	0	1	0	0	0	603	564	20	3	609	3	ANAPC2	9	140074648	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	7442592	140074648	1138783	30	16927											
KIAA1217	56243	broad.mit.edu	37	10	24810787	24810787	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr10:24810787G>T	ENST00000376454.3	+	12	2415	c.2385G>T	c.(2383-2385)gaG>gaT	p.E795D	KIAA1217_ENST00000458595.1_Missense_Mutation_p.E760D|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E760D|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E478D|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E478D|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E715D|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E478D|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.E478D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	795				E -> G (in Ref. 3; CAE45879). {ECO:0000305}.	embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.E795D(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTCTGAAGGAGGAGCCACACA	0.587																																																1	Substitution - Missense(1)	ovary(1)	10											71	69	70					10																	24810787		2203	4300	6503	24850793	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2385G>T	10.37:g.24810787G>T	ENSP00000365637:p.Glu795Asp		24850793	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138406	0.77775	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.95	3.14	0.36123	.	0.096544	0.64402	D	0.000001	T	0.70064	0.3181	M	0.62088	1.915	0.58432	D	0.999994	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D;D	0.87578	0.993;0.993;0.994;0.998;0.998;0.994;0.99;0.996	T	0.67894	-0.5552	10	0.49607	T	0.09	.	10.7386	0.46139	0.2603:0.0:0.7397:0.0	.	760;760;478;478;478;478;795;795	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	D	715;760;760;478;795;760;610;478;478;478;478;478	ENSP00000365645:E715D;ENSP00000365639:E760D;ENSP00000392625:E760D;ENSP00000365637:E795D;ENSP00000365635:E760D;ENSP00000404798:E610D;ENSP00000302343:E478D;ENSP00000379722:E478D;ENSP00000365634:E478D;ENSP00000379723:E478D	ENSP00000302343:E478D	E	+	3	2	KIAA1217	24850793	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.399000	0.34566	0.432000	0.26286	0.563000	0.77884	GAG		0.587	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		T	24810787	G	T	24810787	3	4	317	1	0	0	0	0	1	0	0	0	8216	991	35	3	2431	3	KIAA1217	10	24810787	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08		24810787	110723960	31	16928											
SGMS1	259230	broad.mit.edu	37	10	52071164	52071164	+	Silent	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr10:52071164G>A	ENST00000361781.2	-	9	1712	c.753C>T	c.(751-753)gaC>gaT	p.D251D	SGMS1_ENST00000429490.1_Silent_p.D82D	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	257					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.D251D(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGGCTTCCCAGTCTCCGAAAA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	10											70	51	57					10																	52071164		2203	4300	6503	51741170	SO:0001819	synonymous_variant	259230			AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"Sterile alpha motif (SAM) domain containing"	29799	protein-coding gene	gene with protein product		611573	"transmembrane protein 23"	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.753C>T	10.37:g.52071164G>A			51741170	Q68U43|Q6EKK0|Q75SP1	Silent	SNP	ENST00000361781.2	37	CCDS7240.1																																																																																				0.433	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		A	52071164	G	A	52071164	2	1	317	1	0	0	0	0	0	0	0	1	14217	1020	36	2		2	SGMS1	10	52071164	Silent	SNP	G	TCGA-25-2401-01A-01W-0799-08	27260377	52071164	83463583	32	16929											
NLRP10	338322	broad.mit.edu	37	11	7984796	7984796	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr11:7984796G>T	ENST00000328600.2	-	1	408	c.247C>A	c.(247-249)Ctg>Atg	p.L83M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	83	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.L83M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTTCCAACAGGTTCATGACC	0.547																																																1	Substitution - Missense(1)	ovary(1)	11											96	88	91					11																	7984796		2201	4296	6497	7941372	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.247C>A	11.37:g.7984796G>T	ENSP00000327763:p.Leu83Met		7941372	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	9.318	1.057313	0.19907	.	.	ENSG00000182261	ENST00000328600	T	0.51817	0.69	3.66	1.5	0.22942	Pyrin (2);DEATH-like (2);	0.000000	0.32357	N	0.006217	T	0.41419	0.1158	L	0.31207	0.915	0.23180	N	0.998168	B	0.32543	0.375	P	0.47075	0.536	T	0.34625	-0.9821	10	0.49607	T	0.09	.	4.2058	0.10488	0.5393:0.0:0.4607:0.0	.	83	Q86W26	NAL10_HUMAN	M	83	ENSP00000327763:L83M	ENSP00000327763:L83M	L	-	1	2	NLRP10	7941372	1.000000	0.71417	0.988000	0.46212	0.309000	0.27889	2.966000	0.49208	0.356000	0.24157	-0.251000	0.11542	CTG		0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		T	7984796	G	T	7984796	3	4	317	1	0	0	0	0	1	0	0	0	10472	991	35	3	1728	3	NLRP10	11	7984796	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08		7984796	127021720	33	16930											
RSF1	51773	broad.mit.edu	37	11	77451976	77451976	+	Silent	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr11:77451976G>A	ENST00000308488.6	-	4	680	c.378C>T	c.(376-378)ctC>ctT	p.L126L	RSF1_ENST00000360355.2_Silent_p.L95L|RSF1-IT1_ENST00000528233.1_RNA			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	126					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.L126L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GACACTCACAGAGGTACTGAA	0.363																																																1	Substitution - coding silent(1)	ovary(1)	11											61	53	56					11																	77451976		2200	4292	6492	77129624	SO:0001819	synonymous_variant	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.378C>T	11.37:g.77451976G>A			77129624	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	CCDS8253.1																																																																																				0.363	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		A	77451976	G	A	77451976	2	1	317	1	0	0	0	0	0	0	0	1	13702	929	33	2		2	RSF1	11	77451976	Silent	SNP	G	TCGA-25-2401-01A-01W-0799-08	69467180	77451976	57554540	34	16931											
EXPH5	23086	broad.mit.edu	37	11	108385374	108385374	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr11:108385374A>G	ENST00000265843.4	-	6	970	c.860T>C	c.(859-861)tTt>tCt	p.F287S	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.F211S|EXPH5_ENST00000443411.1_Missense_Mutation_p.F99S|EXPH5_ENST00000525344.1_Missense_Mutation_p.F280S	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	287					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.F287S(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTAGGAGAAAAGGTTTTAAA	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											95	90	92					11																	108385374		2201	4298	6499	107890584	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.860T>C	11.37:g.108385374A>G	ENSP00000265843:p.Phe287Ser		107890584	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.460487	0.63401	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.06294	3.92;3.83;3.69;3.92;3.73;3.32	5.67	5.67	0.87782	.	0.105878	0.42548	D	0.000685	T	0.19446	0.0467	M	0.69823	2.125	0.31610	N	0.651609	D	0.89917	1.0	D	0.85130	0.997	T	0.26710	-1.0095	10	0.66056	D	0.02	-20.0778	5.0773	0.14638	0.708:0.1762:0.1158:0.0	.	287	Q8NEV8	EXPH5_HUMAN	S	287;211;99;280;131;211;99	ENSP00000265843:F287S;ENSP00000391966:F211S;ENSP00000411390:F99S;ENSP00000432546:F280S;ENSP00000432683:F211S;ENSP00000446434:F99S	ENSP00000265843:F287S	F	-	2	0	EXPH5	107890584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.272000	0.51616	2.154000	0.67381	0.533000	0.62120	TTT		0.363	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		G	108385374	A	G	108385374	3	3	317	1	0	0	0	0	1	0	0	0	5322	14	1	4	5113	4	EXPH5	11	108385374	Missense_Mutation	SNP	A	TCGA-25-2401-01A-01W-0799-08	30933398	108385374	26621142	35	16932											
GPR162	27239	broad.mit.edu	37	12	6936245	6936245	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr12:6936245T>C	ENST00000311268.3	+	5	2430	c.1643T>C	c.(1642-1644)gTt>gCt	p.V548A	LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.V244A|GPR162_ENST00000428545.2_Missense_Mutation_p.V264A	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	548						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V548A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						AGCAGAGCCGTTGGACTTCCT	0.672																																																1	Substitution - Missense(1)	ovary(1)	12											61	72	68					12																	6936245		2199	4297	6496	6806506	SO:0001583	missense	27239			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1643T>C	12.37:g.6936245T>C	ENSP00000311528:p.Val548Ala		6806506	Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.517709	0.27123	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.42900	3.12;0.96;0.96	4.56	2.25	0.28309	.	.	.	.	.	T	0.21427	0.0516	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21930	-1.0231	9	0.16896	T	0.51	.	5.5664	0.17173	0.0:0.2181:0.0:0.7819	.	264;548	Q16538-2;Q16538	.;GP162_HUMAN	A	548;264;244	ENSP00000311528:V548A;ENSP00000399670:V264A;ENSP00000371752:V244A	ENSP00000311528:V548A	V	+	2	0	GPR162	6806506	0.000000	0.05858	0.012000	0.15200	0.909000	0.53808	0.427000	0.21379	0.886000	0.36113	0.418000	0.28097	GTT		0.672	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		C	6936245	T	C	6936245	3	2	317	1	0	0	0	0	1	0	0	0	6666	1725	60	4	1676	4	GPR162	12	6936245	Missense_Mutation	SNP	T	TCGA-25-2401-01A-01W-0799-08		6936245	126915650	36	16933											
FOXJ2	55810	broad.mit.edu	37	12	8200663	8200663	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr12:8200663C>G	ENST00000162391.3	+	7	2148	c.1003C>G	c.(1003-1005)Cca>Gca	p.P335A	FOXJ2_ENST00000428177.2_Missense_Mutation_p.P335A	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	335					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.P335A(1)		autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGGTGCTCCTCCACTGCACAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	12											54	50	52					12																	8200663		2203	4300	6503	8091930	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1003C>G	12.37:g.8200663C>G	ENSP00000162391:p.Pro335Ala		8091930	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	C	6.087	0.384425	0.11524	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94576	-3.31;-3.46	5.61	2.31	0.28768	.	1.531970	0.03900	N	0.280158	D	0.88239	0.6383	N	0.16478	0.41	0.27451	N	0.953432	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.78160	-0.2312	10	0.22706	T	0.39	.	6.067	0.19868	0.0:0.5179:0.3779:0.1042	.	335;335	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	A	335	ENSP00000162391:P335A;ENSP00000403411:P335A	ENSP00000162391:P335A	P	+	1	0	FOXJ2	8091930	0.221000	0.23642	0.702000	0.30337	0.911000	0.54048	0.671000	0.25172	1.315000	0.45114	0.491000	0.48974	CCA		0.667	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		G	8200663	C	G	8200663	3	3	317	1	0	0	0	0	1	0	0	0	6012	855	30	3	1025	3	FOXJ2	12	8200663	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	1264418	8200663	125651232	37	16934											
KRT73	319101	broad.mit.edu	37	12	53012064	53012064	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr12:53012064G>A	ENST00000305748.3	-	1	279	c.245C>T	c.(244-246)gCt>gTt	p.A82V	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	82	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.A82V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CATGCTGCCAGCAAAGCCACT	0.637																																																1	Substitution - Missense(1)	ovary(1)	12											100	112	108					12																	53012064		2203	4300	6503	51298331	SO:0001583	missense	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.245C>T	12.37:g.53012064G>A	ENSP00000307014:p.Ala82Val		51298331	Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069980	0.36566	.	.	ENSG00000186049	ENST00000305748	T	0.77358	-1.09	4.64	4.64	0.57946	.	0.119337	0.37012	N	0.002282	T	0.68522	0.3010	L	0.52364	1.645	0.26933	N	0.966418	B	0.23058	0.079	B	0.21360	0.034	T	0.53151	-0.8479	10	0.13853	T	0.58	.	11.1758	0.48598	0.0878:0.0:0.9122:0.0	.	82	Q86Y46	K2C73_HUMAN	V	82	ENSP00000307014:A82V	ENSP00000307014:A82V	A	-	2	0	KRT73	51298331	0.001000	0.12720	0.963000	0.40424	0.890000	0.51754	0.757000	0.26433	2.512000	0.84698	0.655000	0.94253	GCT		0.637	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		A	53012064	G	A	53012064	3	1	317	1	0	0	0	0	1	0	0	0	8486	971	34	2	1413	2	KRT73	12	53012064	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08	44811401	53012064	80839831	38	16935											
ZNF605	100289635	broad.mit.edu	37	12	133509732	133509732	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr12:133509732C>G	ENST00000360187.4	-	4	373	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	ZNF605_ENST00000331711.7_5'UTR|ZNF605_ENST00000392321.3_Missense_Mutation_p.E9Q	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.E9Q(1)		breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		GCCACATCCTCAAATGATATC	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											4	3	3					12																	133509732		1688	2535	4223	132019805	SO:0001583	missense	100289635			AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"Zinc fingers, C2H2-type", "-"	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.25G>C	12.37:g.133509732C>G	ENSP00000353314:p.Glu9Gln		132019805	B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	ENST00000360187.4	37	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.128988	0.37533	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.02197	4.4;4.4	3.35	2.35	0.29111	Krueppel-associated box (4);	.	.	.	.	T	0.05640	0.0148	M	0.62016	1.91	0.34357	D	0.690543	P;P	0.45827	0.867;0.81	P;B	0.50378	0.639;0.301	T	0.43261	-0.9402	9	0.31617	T	0.26	.	11.9305	0.52843	0.0:0.8222:0.1778:0.0	.	9;9	B3KVG4;Q86T29	.;ZN605_HUMAN	Q	9	ENSP00000353314:E9Q;ENSP00000376135:E9Q	ENSP00000353314:E9Q	E	-	1	0	ZNF605	132019805	1.000000	0.71417	0.990000	0.47175	0.897000	0.52465	3.418000	0.52721	1.882000	0.54519	0.462000	0.41574	GAG		0.403	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238		G	133509732	C	G	133509732	3	3	317	1	0	0	0	0	1	0	0	0	18031	835	29	3	2005	3	ZNF605	12	133509732	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	80497668	133509732	342163	39	16936											
DAAM1	23002	broad.mit.edu	37	14	59821991	59821991	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr14:59821991C>G	ENST00000395125.1	+	20	2518	c.2495C>G	c.(2494-2496)gCa>gGa	p.A832G	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.A822G|DAAM1_ENST00000351081.1_Missense_Mutation_p.A832G	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	832	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.A832G(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGAGGGAATGCATATGGATTC	0.433																																																1	Substitution - Missense(1)	ovary(1)	14											147	136	139					14																	59821991		2203	4300	6503	58891744	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2495C>G	14.37:g.59821991C>G	ENSP00000378557:p.Ala832Gly		58891744	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206763	0.95033	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.37058	1.22;1.22;1.22	5.81	5.81	0.92471	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.092055	0.85682	D	0.000000	T	0.73837	0.3638	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.80845	-0.1200	10	0.87932	D	0	.	20.4375	0.99097	0.0:1.0:0.0:0.0	.	822;832	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	G	822;832;801;832	ENSP00000354162:A822G;ENSP00000247170:A832G;ENSP00000378557:A832G	ENSP00000247170:A832G	A	+	2	0	DAAM1	58891744	1.000000	0.71417	0.980000	0.43619	0.892000	0.51952	7.776000	0.85560	2.906000	0.99361	0.655000	0.94253	GCA		0.433	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		G	59821991	C	G	59821991	3	3	317	1	0	0	0	0	1	0	0	0	4215	710	25	3	2573	3	DAAM1	14	59821991	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08		59821991	47527549	40	16937											
SPRED1	161742	broad.mit.edu	37	15	38643268	38643268	+	Silent	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr15:38643268C>G	ENST00000299084.4	+	7	1598	c.738C>G	c.(736-738)gtC>gtG	p.V246V		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	246	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.V246V(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATGAGATTGTCAGAATAAACC	0.383									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)											1	Substitution - coding silent(1)	ovary(1)	15											57	53	54					15																	38643268		2200	4297	6497	36430560	SO:0001819	synonymous_variant	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.738C>G	15.37:g.38643268C>G			36430560	B2RPJ8|Q05D53|Q8N256	Silent	SNP	ENST00000299084.4	37	CCDS32193.1																																																																																				0.383	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			G	38643268	C	G	38643268	2	3	317	1	0	0	0	0	0	0	0	1	15094	813	29	3		3	SPRED1	15	38643268	Silent	SNP	C	TCGA-25-2401-01A-01W-0799-08		38643268	63888124	41	16938											
DISP2	85455	broad.mit.edu	37	15	40662322	40662322	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr15:40662322C>T	ENST00000267889.3	+	8	4096	c.4009C>T	c.(4009-4011)Cgg>Tgg	p.R1337W	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1337					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.R1337W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAATGGGAAGCGGGACACCCT	0.632																																																1	Substitution - Missense(1)	ovary(1)	15											87	91	90					15																	40662322		2203	4300	6503	38449614	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.4009C>T	15.37:g.40662322C>T	ENSP00000267889:p.Arg1337Trp		38449614	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578940	0.65878	.	.	ENSG00000140323	ENST00000267889	T	0.33216	1.42	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.34521	1.04	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	T	0.31138	-0.9954	10	0.87932	D	0	-30.3382	11.3479	0.49571	0.3078:0.6922:0.0:0.0	.	1337	A7MBM2	DISP2_HUMAN	W	1337	ENSP00000267889:R1337W	ENSP00000267889:R1337W	R	+	1	2	DISP2	38449614	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.483000	0.53194	2.600000	0.87896	0.561000	0.74099	CGG		0.632	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		T	40662322	C	T	40662322	3	4	317	1	0	0	0	0	1	0	0	0	4540	759	27	1	4039	1	DISP2	15	40662322	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	2019054	40662322	61869070	42	16939											
FOXB1	27023	broad.mit.edu	37	15	60297434	60297434	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr15:60297434C>G	ENST00000396057.4	+	2	751	c.272C>G	c.(271-273)cCa>cGa	p.P91R	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	91					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P91R(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GCGCTGCACCCAAGCTGCGGG	0.647																																																1	Substitution - Missense(1)	ovary(1)	15											44	47	46					15																	60297434		2203	4298	6501	58084726	SO:0001583	missense	27023			AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"Forkhead boxes"	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.272C>G	15.37:g.60297434C>G	ENSP00000379369:p.Pro91Arg		58084726	O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122134	0.77436	.	.	ENSG00000171956	ENST00000396057	D	0.95853	-3.83	3.63	3.63	0.41609	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000001	D	0.98030	0.9351	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98985	1.0806	10	0.87932	D	0	.	14.0321	0.64622	0.0:1.0:0.0:0.0	.	91	Q99853	FOXB1_HUMAN	R	91	ENSP00000379369:P91R	ENSP00000379369:P91R	P	+	2	0	FOXB1	58084726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.604000	0.82830	1.838000	0.53458	0.650000	0.86243	CCA		0.647	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			G	60297434	C	G	60297434	3	3	317	1	0	0	0	0	1	0	0	0	5992	594	21	3	274	3	FOXB1	15	60297434	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	19635112	60297434	42233958	43	16940											
SV2B	9899	broad.mit.edu	37	15	91801658	91801658	+	Silent	SNP	C	C	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr15:91801658C>T	ENST00000394232.1	+	5	1262	c.792C>T	c.(790-792)ggC>ggT	p.G264G	SV2B_ENST00000330276.4_Silent_p.G264G|SV2B_ENST00000545111.2_Silent_p.G113G	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	264					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.G264G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CAGGCTGGGGCTTCAGCATGG	0.532																																																1	Substitution - coding silent(1)	ovary(1)	15											142	109	120					15																	91801658		2198	4298	6496	89602662	SO:0001819	synonymous_variant	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.792C>T	15.37:g.91801658C>T			89602662	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																				0.532	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		T	91801658	C	T	91801658	2	4	317	1	0	0	0	0	0	0	0	1	15418	784	28	2		2	SV2B	15	91801658	Silent	SNP	C	TCGA-25-2401-01A-01W-0799-08	31504224	91801658	10729734	44	16941											
GSG1L	146395	broad.mit.edu	37	16	27840263	27840263	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr16:27840263G>A	ENST00000447459.2	-	5	761	c.677C>T	c.(676-678)tCc>tTc	p.S226F	GSG1L_ENST00000380898.2_Missense_Mutation_p.S71F|GSG1L_ENST00000395724.3_Missense_Mutation_p.S175F|GSG1L_ENST00000569166.1_Missense_Mutation_p.S71F|GSG1L_ENST00000380897.3_Missense_Mutation_p.S71F	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	226					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S71F(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GCAGGTAAAGGAGCCCCACGC	0.562																																																1	Substitution - Missense(1)	ovary(1)	16											53	42	46					16																	27840263		2197	4300	6497	27747764	SO:0001583	missense	146395			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.677C>T	16.37:g.27840263G>A	ENSP00000394954:p.Ser226Phe		27747764	Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782985	0.90282	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T;D;D	0.90133	0.74;0.94;-2.62;-2.62	5.25	5.25	0.73442	.	0.060277	0.64402	D	0.000002	D	0.94640	0.8272	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.78314	0.988;0.982;0.991	D	0.94788	0.7959	10	0.59425	D	0.04	-17.9935	17.6134	0.88061	0.0:0.0:1.0:0.0	.	175;71;226	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	F	226;175;71;71	ENSP00000394954:S226F;ENSP00000379074:S175F;ENSP00000370283:S71F;ENSP00000370282:S71F	ENSP00000370282:S71F	S	-	2	0	GSG1L	27747764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.998000	0.88491	2.459000	0.83118	0.655000	0.94253	TCC		0.562	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		A	27840263	G	A	27840263	3	1	317	1	0	0	0	0	1	0	0	0	6821	1174	41	2	330	2	GSG1L	16	27840263	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08		27840263	62514490	45	16942											
ADAMTS18	170692	broad.mit.edu	37	16	77401459	77401470	+	In_Frame_Del	DEL	GCCGGGGTAGCC	GCCGGGGTAGCC	-	rs141796905|rs113746494		TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	GCCGGGGTAGCC	GCCGGGGTAGCC	-	-	GCCGGGGTAGCC	GCCGGGGTAGCC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr16:77401459_77401470delGCCGGGGTAGCC	ENST00000282849.5	-	4	1064_1075	c.646_657delGGCTACCCCGGC	c.(646-657)ggctaccccggcdel	p.GYPG216del	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	216					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G219V(1)|p.G216_G219del(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCGGCCAGAGCCGGGGTAGCCACGGTACCGC	0.542																																																2	Substitution - Missense(1)|Deletion - In frame(1)	ovary(1)|lung(1)	16																																								75958971	SO:0001651	inframe_deletion	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.646_657delGGCTACCCCGGC	16.37:g.77401459_77401470delGCCGGGGTAGCC	ENSP00000282849:p.Gly216_Gly219del		75958960	Q6P4R5|Q6ZWJ9	In_Frame_Del	DEL	ENST00000282849.5	37	CCDS10926.1																																																																																				0.542	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			-	77401470	GCCGGGGTAGCC	-	77401459	7	5	317	1	0	1	0	1	0	0	0	0	263	958	34	0	3088	0	ADAMTS18	16	77401459	In_Frame_Del	DEL	GCCGGGGTAGCC	TCGA-25-2401-01A-01W-0799-08	49561196	77401459	12953294	46	16943											
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)	CACTCGGATAAGATGCTGAGG	0.552		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"	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)	17											97	87	90					17																	7578268		2203	4300	6503	7518993	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.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg		7518993	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	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	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	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578268	A	C	7578268	3	2	317	1	0	0	0	0	1	0	0	0	16381	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-25-2401-01A-01W-0799-08		7578268	73616942	47	16944											
LIG3	3980	broad.mit.edu	37	17	33313103	33313103	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr17:33313103C>T	ENST00000378526.4	+	3	777	c.644C>T	c.(643-645)gCc>gTc	p.A215V	LIG3_ENST00000586407.1_3'UTR|LIG3_ENST00000262327.5_Missense_Mutation_p.A215V	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	215					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.A128V(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GTGAAAGGCGCCTCATTTGTC	0.448								Other BER factors																																								1	Substitution - Missense(1)	ovary(1)	17											156	151	153					17																	33313103		2203	4300	6503	30337216	SO:0001583	missense	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.644C>T	17.37:g.33313103C>T	ENSP00000367787:p.Ala215Val		30337216	Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	9.633	1.136831	0.21123	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.62232	0.17;0.04	5.81	4.84	0.62591	.	0.581380	0.17225	N	0.182176	T	0.42585	0.1209	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.002;0.001	T	0.11817	-1.0572	10	0.19147	T	0.46	-4.6544	11.6738	0.51417	0.0:0.9195:0.0:0.0805	.	215;215;215;215	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	V	215	ENSP00000367787:A215V;ENSP00000262327:A215V	ENSP00000262327:A215V	A	+	2	0	LIG3	30337216	0.013000	0.17824	0.033000	0.17914	0.012000	0.07955	2.627000	0.46469	2.746000	0.94184	0.655000	0.94253	GCC		0.448	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		T	33313103	C	T	33313103	3	4	317	1	0	0	0	0	1	0	0	0	8782	739	26	2	650	2	LIG3	17	33313103	Missense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	25734835	33313103	47882107	48	16945											
MYL4	4635	broad.mit.edu	37	17	45299066	45299066	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr17:45299066T>C	ENST00000354968.1	+	5	460	c.332T>C	c.(331-333)cTg>cCg	p.L111P	MYL4_ENST00000393450.1_Missense_Mutation_p.L111P|snoU13_ENST00000516279.1_RNA|MYL4_ENST00000572316.1_Missense_Mutation_p.L111P	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	111					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)	p.L111P(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						GTCAAGATGCTGGACTTTGAG	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											164	140	148					17																	45299066		2203	4300	6503	42654065	SO:0001583	missense	4635				CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"Myosins / Light chain", "EF-hand domain containing"	7585	protein-coding gene	gene with protein product	"myosin, atrial/fetal muscle, light chain"	160770	"myosin, light polypeptide 4, alkali; atrial, embryonic"			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.332T>C	17.37:g.45299066T>C	ENSP00000347055:p.Leu111Pro		42654065	D3DXJ7|P11783	Missense_Mutation	SNP	ENST00000354968.1	37	CCDS11510.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328565	0.81690	.	.	ENSG00000198336	ENST00000354968;ENST00000393450	D;D	0.82433	-1.61;-1.61	5.23	5.23	0.72850	EF-hand-like domain (1);	0.110120	0.43416	D	0.000575	D	0.91663	0.7365	M	0.91090	3.175	0.80722	D	1	D	0.65815	0.995	P	0.62014	0.897	D	0.93343	0.6711	10	0.87932	D	0	-14.7868	13.3507	0.60601	0.0:0.0:0.0:1.0	.	111	P12829	MYL4_HUMAN	P	111	ENSP00000347055:L111P;ENSP00000377096:L111P	ENSP00000347055:L111P	L	+	2	0	MYL4	42654065	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.920000	0.87521	2.086000	0.62901	0.454000	0.30748	CTG		0.542	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		C	45299066	T	C	45299066	3	2	317	1	0	0	0	0	1	0	0	0	10049	1580	55	4	346	4	MYL4	17	45299066	Missense_Mutation	SNP	T	TCGA-25-2401-01A-01W-0799-08	11985963	45299066	35896144	49	16946											
LAMA1	284217	broad.mit.edu	37	18	6992560	6992560	+	Splice_Site	SNP	T	T	G			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr18:6992560T>G	ENST00000389658.3	-	36	5261	c.5168A>C	c.(5167-5169)aAg>aCg	p.K1723T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1723	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.K1723T(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGAAACTTACTTGAGTTCAAG	0.423																																																1	Substitution - Missense(1)	ovary(1)	18											161	142	148					18																	6992560		2203	4300	6503	6982560	SO:0001630	splice_region_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5168+1A>C	18.37:g.6992560T>G			6982560		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.934452	0.34096	.	.	ENSG00000101680	ENST00000389658	T	0.11604	2.76	5.5	4.31	0.51392	Laminin I (1);	0.342461	0.30473	N	0.009556	T	0.15478	0.0373	M	0.61703	1.905	0.58432	D	0.999994	P	0.44521	0.837	B	0.43867	0.434	T	0.01591	-1.1317	9	.	.	.	.	12.2054	0.54348	0.0:0.0:0.1429:0.8571	.	1723	P25391	LAMA1_HUMAN	T	1723	ENSP00000374309:K1723T	.	K	-	2	0	LAMA1	6982560	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	1.974000	0.40559	0.898000	0.36418	0.383000	0.25322	AAG		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Missense_Mutation	G	6992560	T	G	6992560	5	3	317	1	0	0	0	0	0	0	1	0	8605	1623	56	5	4171	5	LAMA1	18	6992560	Splice_Site	SNP	T	TCGA-25-2401-01A-01W-0799-08		6992560	71084688	50	16947											
ZNF236	7776	broad.mit.edu	37	18	74637432	74637432	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr18:74637432G>A	ENST00000253159.8	+	22	4141	c.3943G>A	c.(3943-3945)Gtt>Att	p.V1315I	ZNF236_ENST00000320610.9_Missense_Mutation_p.V1317I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1315					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1315I(1)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAACAACTCTGTTCTAACAGG	0.502																																																1	Substitution - Missense(1)	ovary(1)	18											75	73	74					18																	74637432		1996	4170	6166	72766420	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3943G>A	18.37:g.74637432G>A	ENSP00000253159:p.Val1315Ile		72766420	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198279	0.79015	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11495	2.77;2.96	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000001	T	0.22898	0.0553	L	0.34521	1.04	0.54753	D	0.999989	D	0.64830	0.994	D	0.72625	0.978	T	0.02144	-1.1206	10	0.34782	T	0.22	.	17.6314	0.88109	0.0:0.0:1.0:0.0	.	1315	Q9UL36	ZN236_HUMAN	I	1315	ENSP00000253159:V1315I;ENSP00000444524:V1315I	ENSP00000253159:V1315I	V	+	1	0	ZNF236	72766420	1.000000	0.71417	0.104000	0.21259	0.523000	0.34469	9.190000	0.94934	2.216000	0.71823	0.557000	0.71058	GTT		0.502	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74637432	G	A	74637432	3	1	317	1	0	0	0	0	1	0	0	0	17789	1377	48	2	4029	2	ZNF236	18	74637432	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08	67644872	74637432	3439816	51	16948											
CEACAM8	1088	broad.mit.edu	37	19	43093708	43093708	+	Silent	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr19:43093708G>A	ENST00000244336.5	-	3	705	c.604C>T	c.(604-606)Cta>Tta	p.L202L	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	202	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L202L(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				ACACTGAGTAGAGTGAGGGTC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	19											272	243	253					19																	43093708		2203	4300	6503	47785548	SO:0001819	synonymous_variant	1088			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.604C>T	19.37:g.43093708G>A			47785548	O60399|Q16574	Silent	SNP	ENST00000244336.5	37	CCDS12610.1																																																																																				0.522	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			A	43093708	G	A	43093708	2	1	317	1	0	0	0	0	0	0	0	1	3198	933	33	2		2	CEACAM8	19	43093708	Silent	SNP	G	TCGA-25-2401-01A-01W-0799-08		43093708	16035275	52	16949											
C20orf117	140710	broad.mit.edu	37	20	35444192	35444192	+	Silent	SNP	G	G	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr20:35444192G>A	ENST00000357779.3	-	5	1265	c.939C>T	c.(937-939)caC>caT	p.H313H	SOGA1_ENST00000456801.2_Silent_p.H154H|SOGA1_ENST00000279034.6_Silent_p.H313H|SOGA1_ENST00000237536.4_Silent_p.H551H			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	313					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H551H(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CGTCCAGCTCGTGCTCCGAGC	0.647																																																1	Substitution - coding silent(1)	ovary(1)	20											15	17	16					20																	35444192		2149	4270	6419	34877606	SO:0001819	synonymous_variant	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.939C>T	20.37:g.35444192G>A			34877606	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																					0.647	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		A	35444192	G	A	35444192	2	1	317	1	0	0	0	0	0	0	0	1	2083	1136	40	1		1	C20orf117	20	35444192	Silent	SNP	G	TCGA-25-2401-01A-01W-0799-08		35444192	27581328	53	16950											
ZBTB46	140685	broad.mit.edu	37	20	62421516	62421516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr20:62421516C>A	ENST00000245663.4	-	2	745	c.595G>T	c.(595-597)Gag>Tag	p.E199*	ZBTB46_ENST00000302995.2_Nonsense_Mutation_p.E199*|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Nonsense_Mutation_p.E199*	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	199					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E199*(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCTGATCCTCTTTCCCGTAG	0.617																																																1	Substitution - Nonsense(1)	ovary(1)	20											51	49	50					20																	62421516		2203	4300	6503	61891960	SO:0001587	stop_gained	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.595G>T	20.37:g.62421516C>A	ENSP00000245663:p.Glu199*		61891960	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Nonsense_Mutation	SNP	ENST00000245663.4	37	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002737	0.93227	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	.	.	.	5.64	5.64	0.86602	.	0.053976	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	18.6907	0.91582	0.0:1.0:0.0:0.0	.	.	.	.	X	199	.	ENSP00000245663:E199X	E	-	1	0	ZBTB46	61891960	1.000000	0.71417	0.942000	0.38095	0.028000	0.11728	7.372000	0.79612	2.674000	0.91012	0.650000	0.86243	GAG		0.617	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		A	62421516	C	A	62421516	4	1	317	1	0	0	0	0	0	1	0	0	17547	922	32	3	1190	3	ZBTB46	20	62421516	Nonsense_Mutation	SNP	C	TCGA-25-2401-01A-01W-0799-08	26977324	62421516	604004	54	16951											
MX2	4600	broad.mit.edu	37	21	42754410	42754410	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2401-01A-01W-0799-08	TCGA-25-2401-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	22ec28a8-514c-47ec-baf8-2d9aa77036d9	aeaddbe0-52da-487c-a700-7f557396da3a	g.chr21:42754410G>T	ENST00000330714.3	+	5	835	c.651G>T	c.(649-651)gaG>gaT	p.E217D	MX2_ENST00000543692.1_Missense_Mutation_p.E172D	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	217	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E217D(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CCTCCCCTGAGGTTCCAGACC	0.607																																																1	Substitution - Missense(1)	ovary(1)	21											85	78	80					21																	42754410		2203	4300	6503	41676280	SO:0001583	missense	4600				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.651G>T	21.37:g.42754410G>T	ENSP00000333657:p.Glu217Asp		41676280	B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.617630	0.00828	.	.	ENSG00000183486	ENST00000330714;ENST00000543692	D;D	0.96716	-4.1;-3.58	3.54	-3.72	0.04411	Dynamin, GTPase domain (2);	0.322211	0.30989	N	0.008475	T	0.78162	0.4240	N	0.00801	-1.175	0.09310	N	1	B	0.11235	0.004	B	0.17979	0.02	T	0.78677	-0.2111	10	0.02654	T	1	-9.3973	2.8562	0.05573	0.0931:0.3354:0.1712:0.4004	.	217	P20592	MX2_HUMAN	D	217;172	ENSP00000333657:E217D;ENSP00000446017:E172D	ENSP00000333657:E217D	E	+	3	2	MX2	41676280	0.021000	0.18746	0.001000	0.08648	0.493000	0.33554	-0.255000	0.08769	-0.528000	0.06366	-0.979000	0.02580	GAG		0.607	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		T	42754410	G	T	42754410	3	4	317	1	0	0	0	0	1	0	0	0	9998	991	35	3	665	3	MX2	21	42754410	Missense_Mutation	SNP	G	TCGA-25-2401-01A-01W-0799-08		42754410	5375485	55	16952											
PTPRF	5792	broad.mit.edu	37	1	44075159	44075159	+	Nonsense_Mutation	SNP	C	C	G			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr1:44075159C>G	ENST00000359947.4	+	22	4303	c.3963C>G	c.(3961-3963)taC>taG	p.Y1321*	PTPRF_ENST00000372413.3_Nonsense_Mutation_p.Y1312*|PTPRF_ENST00000438120.1_Nonsense_Mutation_p.Y1312*|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.Y1321*|PTPRF_ENST00000422171.2_Nonsense_Mutation_p.Y669*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1321					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y1311*(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCTCAACTACCAGACCCCAG	0.612																																																1	Substitution - Nonsense(1)	ovary(1)	1											66	55	58					1																	44075159		2203	4300	6503	43847746	SO:0001587	stop_gained	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3963C>G	1.37:g.44075159C>G	ENSP00000353030:p.Tyr1321*		43847746	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Nonsense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	33|33|33	5.209559|5.209559|5.209559	0.95069|0.95069|0.95069	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|.|.	.|.|.	.|.|.	4.81|4.81|4.81	3.9|3.9|3.9	0.45041|0.45041|0.45041	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.37758|0.37758|.	0.1015|0.1015|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.36187|0.36187|.	-0.9758|-0.9758|.	3|3|.	.|.|0.06891	.|.|T	.|.|0.86	.|.|.	13.546|13.546|13.546	0.61705|0.61705|0.61705	0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765	.|.|.	.|.|.	.|.|.	.|.|.	A|S|X	694;735|967|1321;1312;1321;1312;669;382	.|.|.	.|.|ENSP00000353030:Y1321X	P|T|Y	+|+|+	1|2|3	0|0|2	PTPRF|PTPRF|PTPRF	43847746|43847746|43847746	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.947000|0.947000|0.947000	0.59692|0.59692|0.59692	1.978000|1.978000|1.978000	0.40598|0.40598|0.40598	1.156000|1.156000|1.156000	0.42514|0.42514|0.42514	-0.448000|-0.448000|-0.448000	0.05591|0.05591|0.05591	CCA|ACC|TAC		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			G	44075159	C	G	44075159	4	3	318	1	0	0	0	0	0	1	0	0	12804	518	18	3	4041	3	PTPRF	1	44075159	Nonsense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08		44075159	205175462	1	16953											
SYT11	23208	broad.mit.edu	37	1	155838356	155838356	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr1:155838356C>A	ENST00000368324.4	+	2	888	c.635C>A	c.(634-636)aCc>aAc	p.T212N	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	212	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.T212N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CGGGTGAAGACCAGAGTGCTG	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											105	90	95					1																	155838356		2203	4300	6503	154104980	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.635C>A	1.37:g.155838356C>A	ENSP00000357307:p.Thr212Asn		154104980	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825013	0.90955	.	.	ENSG00000132718	ENST00000368324	T	0.28666	1.6	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	H	0.99642	4.675	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.85944	0.1460	10	0.87932	D	0	.	20.0189	0.97489	0.0:1.0:0.0:0.0	.	212	Q9BT88	SYT11_HUMAN	N	212	ENSP00000357307:T212N	ENSP00000357307:T212N	T	+	2	0	SYT11	154104980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.828000	0.97474	0.655000	0.94253	ACC		0.572	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		A	155838356	C	A	155838356	3	1	318	1	0	0	0	0	1	0	0	0	15467	507	18	3	641	3	SYT11	1	155838356	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08	111763197	155838356	93412265	2	16954											
ALMS1	7840	broad.mit.edu	37	2	73677305	73677305	+	Silent	SNP	A	A	G			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr2:73677305A>G	ENST00000264448.6	+	8	3759	c.3648A>G	c.(3646-3648)aaA>aaG	p.K1216K	ALMS1_ENST00000377715.1_Silent_p.K1216K|ALMS1_ENST00000409009.1_Silent_p.K1174K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1216	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.K1216K(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGGCACAGAAAGTTTCACCTG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	2											107	108	107					2																	73677305		1891	4117	6008	73530813	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3648A>G	2.37:g.73677305A>G			73530813	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73677305	A	G	73677305	2	3	318	1	0	0	0	0	0	0	0	1	535	69	3	4		4	ALMS1	2	73677305	Silent	SNP	A	TCGA-25-2404-01A-01W-0799-08		73677305	169522068	3	16955											
SLC4A10	57282	broad.mit.edu	37	2	162807307	162807307	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr2:162807307G>A	ENST00000446997.1	+	19	2583	c.2490G>A	c.(2488-2490)atG>atA	p.M830I	SLC4A10_ENST00000415876.2_Missense_Mutation_p.M800I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.M800I|SLC4A10_ENST00000375514.5_Missense_Mutation_p.M811I|SLC4A10_ENST00000421911.1_Missense_Mutation_p.M830I	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	830					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.M800I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TAATTTTTATGGACCAACAGA	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											73	69	70					2																	162807307		1846	4100	5946	162515553	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2490G>A	2.37:g.162807307G>A	ENSP00000393066:p.Met830Ile		162515553	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233667	0.95207	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.98	5.98	0.97165	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.97110	0.997;0.997;1.0	D	0.90149	0.4219	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	811;800;830	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	I	811;800;800;799;830;830;829	ENSP00000364664:M811I;ENSP00000395797:M800I;ENSP00000272716:M800I;ENSP00000393066:M830I;ENSP00000404486:M830I	ENSP00000272716:M800I	M	+	3	0	SLC4A10	162515553	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	ATG		0.358	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		A	162807307	G	A	162807307	3	1	318	1	0	0	0	0	1	0	0	0	14654	1348	47	2	2649	2	SLC4A10	2	162807307	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08	89130002	162807307	80392066	4	16956											
TTN	7273	broad.mit.edu	37	2	179510754	179510754	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr2:179510754G>A	ENST00000591111.1	-	167	35602	c.35378C>T	c.(35377-35379)cCt>cTt	p.P11793L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P13434L|TTN_ENST00000342992.6_Missense_Mutation_p.P10866L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11793	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P10866L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGGTTCAGGTTCTTGAAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											61	55	57					2																	179510754		1817	4074	5891	179218999	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35378C>T	2.37:g.179510754G>A	ENSP00000465570:p.Pro11793Leu		179218999	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	17.67	3.446193	0.63178	.	.	ENSG00000155657	ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777	T	0.70164	-0.46	5.25	5.25	0.73442	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.77765	0.4179	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.79850	-0.1629	9	0.87932	D	0	.	17.0189	0.86428	0.0:0.0:1.0:0.0	.	11793;273	Q8WZ42;A2TKE4	TITIN_HUMAN;.	L	10866;273;273;93	ENSP00000343764:P10866L	ENSP00000343764:P10866L	P	-	2	0	TTN	179218999	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.354000	0.73036	2.441000	0.82636	0.462000	0.41574	CCT		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179510754	G	A	179510754	3	1	318	1	0	0	0	0	1	0	0	0	16735	1000	35	2	67976	2	TTN	2	179510754	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08	16703447	179510754	63688619	5	16957											
SCG2	7857	broad.mit.edu	37	2	224462651	224462651	+	Silent	SNP	C	C	T	rs538546270		TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr2:224462651C>T	ENST00000305409.2	-	2	1582	c.1350G>A	c.(1348-1350)acG>acA	p.T450T		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.T450T(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAAATACGACGTTTTCTGAT	0.483													A|||	1	0.000199681	8e-04	0	5008	,	,		19886	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2											105	106	106					2																	224462651		2203	4300	6503	224170895	SO:0001819	synonymous_variant	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1350G>A	2.37:g.224462651C>T			224170895	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																				0.483	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		T	224462651	C	T	224462651	2	4	318	1	0	0	0	0	0	0	0	1	13894	523	19	1		1	SCG2	2	224462651	Silent	SNP	C	TCGA-25-2404-01A-01W-0799-08	44951897	224462651	18736722	6	16958											
IQCF3	401067	broad.mit.edu	37	3	51864486	51864486	+	Missense_Mutation	SNP	G	G	A	rs369325050		TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr3:51864486G>A	ENST00000456080.1	+	8	1299	c.134G>A	c.(133-135)cGt>cAt	p.R45H	IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000446775.1_Missense_Mutation_p.R45H|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000437810.2_Missense_Mutation_p.R45H|IQCF3_ENST00000440739.2_Missense_Mutation_p.R45H			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	45								p.R45H(2)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGGTGGCGTGGGGTCCTG	0.602																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	3						G	HIS/ARG,HIS/ARG	0,4354		0,0,2177	56	64	61		134,134	4.7	1	3		61	1,8557		0,1,4278	no	missense,missense	IQCF3	NM_001085479.2,NM_001207023.1	29,29	0,1,6455	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging	45/155,45/155	51864486	1,12911	2177	4279	6456	51839526	SO:0001583	missense	401067			AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.134G>A	3.37:g.51864486G>A	ENSP00000415609:p.Arg45His		51839526	B2RUV0	Missense_Mutation	SNP	ENST00000456080.1	37	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533708	0.85812	0.0	1.17E-4	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.72	4.72	0.59763	.	.	.	.	.	D	0.85754	0.5770	M	0.62088	1.915	0.32883	D	0.510844	D	0.89917	1.0	D	0.91635	0.999	D	0.88191	0.2877	9	0.87932	D	0	.	13.3833	0.60780	0.0:0.0:1.0:0.0	.	45	P0C7M6	IQCF3_HUMAN	H	45	ENSP00000415609:R45H;ENSP00000409373:R45H;ENSP00000401767:R45H;ENSP00000402012:R45H	ENSP00000409373:R45H	R	+	2	0	IQCF3	51839526	0.998000	0.40836	0.981000	0.43875	0.971000	0.66376	4.324000	0.59228	2.626000	0.88956	0.655000	0.94253	CGT		0.602	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346579.2	NM_001085479		A	51864486	G	A	51864486	3	1	318	1	0	0	0	0	1	0	0	0	7809	1145	40	1	144	1	IQCF3	3	51864486	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08		51864486	146157944	7	16959											
SNTN	132203	broad.mit.edu	37	3	63649708	63649708	+	Silent	SNP	C	C	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr3:63649708C>A	ENST00000343837.3	+	4	401	c.381C>A	c.(379-381)ctC>ctA	p.L127L	SNTN_ENST00000496807.1_Intron	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	127						cilium (GO:0005929)	calcium ion binding (GO:0005509)	p.L127L(1)		endometrium(2)|ovary(1)	3						TGATCTTGCTCTTAAGCATCA	0.338																																																1	Substitution - coding silent(1)	ovary(1)	3											85	77	80					3																	63649708		2203	4300	6503	63624748	SO:0001819	synonymous_variant	132203			AK126350	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817			33706	protein-coding gene	gene with protein product	"S100A-like protein"					18829862	Standard	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	A6NMZ2	OTTHUMG00000158766	ENST00000343837.3:c.381C>A	3.37:g.63649708C>A			63624748	B7FF65	Silent	SNP	ENST00000343837.3	37	CCDS33779.1																																																																																				0.338	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1	NM_001080537		A	63649708	C	A	63649708	2	1	318	1	0	0	0	0	0	0	0	1	14879	900	32	3		3	SNTN	3	63649708	Silent	SNP	C	TCGA-25-2404-01A-01W-0799-08	11785222	63649708	134372722	8	16960											
GABRR3	200959	broad.mit.edu	37	3	97731370	97731370	+	RNA	SNP	G	G	A	rs368459164		TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr3:97731370G>A	ENST00000472788.1	-	0	349					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AGAGCCTCTCGTCTTTCCAGT	0.403													G|||	1	0.000199681	8e-04	0	5008	,	,		20974	0		0	False		,,,				2504	0															0			3						G		3,3681		0,3,1839	137	128	131		348	-1	1	3		131	0,8188		0,0,4094	no	coding-synonymous	GABRR3	NM_001105580.2		0,3,5933	AA,AG,GG		0.0,0.0814,0.0253		116/468	97731370	3,11869	1842	4094	5936	99214060			200959			Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	17969	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 3"		"gamma-aminobutyric acid (GABA) receptor, rho 3", "gamma-aminobutyric acid (GABA) A receptor, rho 3"			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97731370G>A			99214060	Q9UIV9	Silent	SNP	ENST00000472788.1	37																																																																																					0.403	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			A	97731370	G	A	97731370	1	1	318	0	1	0	0	0	0	0	0	0	6178	1136	40	1		1	GABRR3	3	97731370	RNA	SNP	G	TCGA-25-2404-01A-01W-0799-08	34081662	97731370	100291060	9	16961											
AMBN	258	broad.mit.edu	37	4	71462743	71462743	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr4:71462743G>A	ENST00000322937.6	+	3	215	c.112G>A	c.(112-114)Ggt>Agt	p.G38S	AMBN_ENST00000449493.2_Missense_Mutation_p.G38S	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	38					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.G38S(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGAACACCGGGTATGGCTAG	0.358																																																1	Substitution - Missense(1)	ovary(1)	4											113	114	114					4																	71462743		2203	4300	6503	71497332	SO:0001583	missense	258			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.112G>A	4.37:g.71462743G>A	ENSP00000313809:p.Gly38Ser		71497332	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428610	0.83667	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.52754	0.65;0.65	5.43	5.43	0.79202	.	0.152448	0.45126	D	0.000390	T	0.67795	0.2931	M	0.71581	2.175	0.47183	D	0.999349	D	0.89917	1.0	D	0.97110	1.0	T	0.70321	-0.4904	10	0.87932	D	0	-9.7328	15.0885	0.72174	0.0:0.0:1.0:0.0	.	38	Q9NP70	AMBN_HUMAN	S	38	ENSP00000313809:G38S;ENSP00000391234:G38S	ENSP00000313809:G38S	G	+	1	0	AMBN	71497332	1.000000	0.71417	0.995000	0.50966	0.845000	0.48019	4.746000	0.62133	2.699000	0.92147	0.655000	0.94253	GGT		0.358	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		A	71462743	G	A	71462743	3	1	318	1	0	0	0	0	1	0	0	0	563	1232	43	2	122	2	AMBN	4	71462743	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08		71462743	119691533	10	16962											
AGXT2L1	64850	broad.mit.edu	37	4	109669170	109669170	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr4:109669170C>A	ENST00000296486.3	-	9	1227	c.1073G>T	c.(1072-1074)gGa>gTa	p.G358V	ETNPPL_ENST00000512646.1_Missense_Mutation_p.G300V|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G352V|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G318V	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	358						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.G358V(1)									CCTAATATCTCCTATCAAAGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											169	165	167					4																	109669170		2203	4300	6503	109888619	SO:0001583	missense	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1073G>T	4.37:g.109669170C>A	ENSP00000296486:p.Gly358Val		109888619	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667640	0.67814	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.54	5.54	0.83059	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.049846	0.85682	D	0.000000	D	0.95564	0.8558	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.995;0.993	D	0.96102	0.9070	9	.	.	.	-19.0954	19.8426	0.96695	0.0:1.0:0.0:0.0	.	300;352;358	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	V	358;352;300;318	ENSP00000296486:G358V;ENSP00000392269:G352V;ENSP00000427065:G300V;ENSP00000423240:G318V	.	G	-	2	0	AGXT2L1	109888619	1.000000	0.71417	0.967000	0.41034	0.316000	0.28119	7.729000	0.84864	2.775000	0.95449	0.655000	0.94253	GGA		0.348	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		A	109669170	C	A	109669170	3	1	318	1	0	0	0	0	1	0	0	0	406	855	30	3	446	3	AGXT2L1	4	109669170	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08	38206427	109669170	81485106	11	16963											
KIF4B	285643	broad.mit.edu	37	5	154395241	154395241	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr5:154395241C>G	ENST00000435029.4	+	1	1982	c.1822C>G	c.(1822-1824)Caa>Gaa	p.Q608E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	608					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGGAGGGTCAAATAGCTGA	0.453																																																0			5											106	104	104					5																	154395241		2203	4300	6503	154375434	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1822C>G	5.37:g.154395241C>G	ENSP00000387875:p.Gln608Glu		154375434		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	13.78	2.339645	0.41398	.	.	ENSG00000226650	ENST00000435029	T	0.12672	2.66	2.14	2.14	0.27477	.	.	.	.	.	T	0.18964	0.0455	L	0.38692	1.165	0.58432	D	0.999997	D	0.69078	0.997	D	0.70016	0.967	T	0.06807	-1.0806	9	0.06099	T	0.92	.	10.3225	0.43775	0.0:1.0:0.0:0.0	.	608	Q2VIQ3	KIF4B_HUMAN	E	608	ENSP00000387875:Q608E	ENSP00000387875:Q608E	Q	+	1	0	KIF4B	154375434	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	3.520000	0.53465	1.138000	0.42230	0.563000	0.77884	CAA		0.453	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			G	154395241	C	G	154395241	3	3	318	1	0	0	0	0	1	0	0	0	8304	827	29	3	1824	3	KIF4B	5	154395241	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08		154395241	26520019	12	16964											
SYNGAP1	8831	broad.mit.edu	37	6	33411445	33411445	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr6:33411445T>C	ENST00000418600.2	+	15	3217	c.3116T>C	c.(3115-3117)aTt>aCt	p.I1039T	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.I980T|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.I1039T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1039					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.I1024T(1)|p.I1039T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAGATCACCATTGGTCCCCAG	0.662																																																2	Substitution - Missense(2)	ovary(2)	6											63	67	66					6																	33411445		2203	4300	6503	33519423	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3116T>C	6.37:g.33411445T>C	ENSP00000403636:p.Ile1039Thr		33519423	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	T	6.322	0.427539	0.11987	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.11712	2.75;2.75;2.75	4.09	2.89	0.33648	.	0.635334	0.14758	N	0.300150	T	0.01835	0.0058	L	0.27053	0.805	0.29082	N	0.88262	B;P;P	0.42518	0.004;0.782;0.782	B;B;B	0.34779	0.008;0.189;0.189	T	0.45745	-0.9240	10	0.16896	T	0.51	.	7.9353	0.29927	0.1837:0.0:0.0:0.8163	.	1039;1039;1039	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	T	1039;1039;1025;980	ENSP00000293748:I1039T;ENSP00000403636:I1039T;ENSP00000412475:I980T	ENSP00000293748:I1039T	I	+	2	0	SYNGAP1	33519423	0.442000	0.25633	0.998000	0.56505	0.903000	0.53119	1.712000	0.37940	0.607000	0.29982	0.397000	0.26171	ATT		0.662	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		C	33411445	T	C	33411445	3	2	318	1	0	0	0	0	1	0	0	0	15447	1493	52	4	3174	4	SYNGAP1	6	33411445	Missense_Mutation	SNP	T	TCGA-25-2404-01A-01W-0799-08		33411445	137703622	13	16965											
KCTD20	222658	broad.mit.edu	37	6	36449514	36449514	+	Silent	SNP	A	A	T			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr6:36449514A>T	ENST00000373731.2	+	6	1225	c.834A>T	c.(832-834)ccA>ccT	p.P278P	KCTD20_ENST00000449081.2_Silent_p.P112P|KCTD20_ENST00000544295.1_Silent_p.P32P|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Silent_p.P133P	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	278					protein homooligomerization (GO:0051260)			p.P278P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						ACCCTCCACCAATGGGGGAGG	0.507																																																1	Substitution - coding silent(1)	ovary(1)	6											95	86	89					6																	36449514		2203	4300	6503	36557492	SO:0001819	synonymous_variant	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.834A>T	6.37:g.36449514A>T			36557492	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Silent	SNP	ENST00000373731.2	37	CCDS4821.1																																																																																				0.507	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		T	36449514	A	T	36449514	2	4	318	1	0	0	0	0	0	0	0	1	8108	117	5	5		5	KCTD20	6	36449514	Silent	SNP	A	TCGA-25-2404-01A-01W-0799-08	3038069	36449514	134665553	14	16966											
ZNF318	24149	broad.mit.edu	37	6	43325309	43325309	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr6:43325309C>T	ENST00000361428.2	-	3	820	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R248Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	248					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R248Q(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCTGTTCCCCGCAACAGCTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	6											109	101	104					6																	43325309		2203	4300	6503	43433287	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.743G>A	6.37:g.43325309C>T	ENSP00000354964:p.Arg248Gln		43433287	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810217	0.70797	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03468	3.92;3.92	5.62	2.34	0.29019	.	0.436527	0.21782	N	0.069194	T	0.01523	0.0049	L	0.27053	0.805	0.09310	N	0.999996	D	0.56287	0.975	P	0.47891	0.56	T	0.46965	-0.9153	10	0.87932	D	0	0.0221	7.7731	0.29021	0.0:0.6915:0.0:0.3085	.	248	Q5VUA4	ZN318_HUMAN	Q	248	ENSP00000323032:R248Q;ENSP00000354964:R248Q	ENSP00000323032:R248Q	R	-	2	0	ZNF318	43433287	0.013000	0.17824	0.899000	0.35326	0.912000	0.54170	0.323000	0.19593	0.128000	0.18479	0.555000	0.69702	CGG		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43325309	C	T	43325309	3	4	318	1	0	0	0	0	1	0	0	0	17836	652	23	1	6128	1	ZNF318	6	43325309	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08	6875795	43325309	127789758	15	16967											
FAM83B	222584	broad.mit.edu	37	6	54806538	54806538	+	Silent	SNP	T	T	G			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr6:54806538T>G	ENST00000306858.7	+	5	2885	c.2769T>G	c.(2767-2769)ctT>ctG	p.L923L	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	923								p.L923L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCAGTGAGCTTCTACGATCTC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	6											114	100	104					6																	54806538		2203	4300	6503	54914497	SO:0001819	synonymous_variant	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2769T>G	6.37:g.54806538T>G			54914497	Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	CCDS34479.1																																																																																				0.443	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		G	54806538	T	G	54806538	2	3	318	1	0	0	0	0	0	0	0	1	5634	1770	62	5		5	FAM83B	6	54806538	Silent	SNP	T	TCGA-25-2404-01A-01W-0799-08	11481229	54806538	116308529	16	16968											
COL12A1	1303	broad.mit.edu	37	6	75833987	75833987	+	Silent	SNP	T	T	C			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr6:75833987T>C	ENST00000322507.8	-	41	7017	c.6708A>G	c.(6706-6708)aaA>aaG	p.K2236K	COL12A1_ENST00000416123.2_Silent_p.K2236K|COL12A1_ENST00000345356.6_Silent_p.K1072K|COL12A1_ENST00000483888.2_Silent_p.K2236K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2236	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.K2236K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGGCTTAGTTTTAGCCTGT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	6											62	60	61					6																	75833987		1843	4102	5945	75890707	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6708A>G	6.37:g.75833987T>C			75890707	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																				0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		C	75833987	T	C	75833987	2	2	318	1	0	0	0	0	0	0	0	1	3669	1722	60	4		4	COL12A1	6	75833987	Silent	SNP	T	TCGA-25-2404-01A-01W-0799-08	21027449	75833987	95281080	17	16969											
WIPI2	26100	broad.mit.edu	37	7	5239271	5239271	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr7:5239271G>C	ENST00000288828.4	+	3	425	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	WIPI2_ENST00000404704.3_Missense_Mutation_p.E65Q|WIPI2_ENST00000382384.2_Missense_Mutation_p.E47Q|WIPI2_ENST00000401525.3_Missense_Mutation_p.E47Q|WIPI2_ENST00000485854.1_3'UTR	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	65					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E65Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GGATAAGCTGGAACAGATCTA	0.338																																																1	Substitution - Missense(1)	ovary(1)	7											195	189	191					7																	5239271		2203	4300	6503	5205797	SO:0001583	missense	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.193G>C	7.37:g.5239271G>C	ENSP00000288828:p.Glu65Gln		5205797	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.077273	0.55753	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.65	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.104270	0.64402	D	0.000004	T	0.72534	0.3472	M	0.62266	1.93	0.80722	D	1	D;B;B;B	0.60160	0.987;0.125;0.125;0.157	P;B;B;B	0.57371	0.819;0.138;0.138;0.066	T	0.74203	-0.3741	10	0.45353	T	0.12	-16.6251	16.0954	0.81117	0.0:0.0:0.865:0.135	.	47;47;65;65	Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;WIPI2_HUMAN	Q	65;47;65;47	ENSP00000288828:E65Q;ENSP00000384945:E47Q;ENSP00000385297:E65Q;ENSP00000371821:E47Q	ENSP00000288828:E65Q	E	+	1	0	WIPI2	5205797	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.671000	0.91174	1.524000	0.49035	0.650000	0.86243	GAA		0.338	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		C	5239271	G	C	5239271	3	2	318	1	0	0	0	0	1	0	0	0	17371	1175	41	3	203	3	WIPI2	7	5239271	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08		5239271	153899392	18	16970											
OGDH	4967	broad.mit.edu	37	7	44737812	44737812	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr7:44737812C>A	ENST00000222673.5	+	18	2422	c.2380C>A	c.(2380-2382)Cgc>Agc	p.R794S	OGDH_ENST00000543843.1_Missense_Mutation_p.R745S|OGDH_ENST00000439616.2_Missense_Mutation_p.R644S|OGDH_ENST00000444676.1_Missense_Mutation_p.R809S|OGDH_ENST00000449767.1_Missense_Mutation_p.R790S|OGDH_ENST00000447398.1_Missense_Mutation_p.R805S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	794					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R794S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TTCCTCCGCCCGCCCAGAGCG	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											122	98	106					7																	44737812		2203	4300	6503	44704337	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2380C>A	7.37:g.44737812C>A	ENSP00000222673:p.Arg794Ser		44704337	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176832	0.78564	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.92	1.38	0.22167	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	H	0.96943	3.91	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	D	0.98323	1.0529	10	0.87932	D	0	-25.4671	18.8304	0.92137	0.2568:0.7432:0.0:0.0	.	589;644;790;805;794	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	S	644;790;805;809;794;745	ENSP00000398576:R644S;ENSP00000392878:R790S;ENSP00000388183:R805S;ENSP00000414662:R809S;ENSP00000222673:R794S;ENSP00000443821:R745S	ENSP00000222673:R794S	R	+	1	0	OGDH	44704337	0.663000	0.27448	0.995000	0.50966	0.999000	0.98932	0.594000	0.24014	0.007000	0.14760	0.655000	0.94253	CGC		0.557	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44737812	C	A	44737812	3	1	318	1	0	0	0	0	1	0	0	0	10839	652	23	3	2619	3	OGDH	7	44737812	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08	39498541	44737812	114400851	19	16971											
UNC5D	137970	broad.mit.edu	37	8	35616908	35616908	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr8:35616908G>T	ENST00000404895.2	+	14	2562	c.2234G>T	c.(2233-2235)gGg>gTg	p.G745V	UNC5D_ENST00000287272.2_Missense_Mutation_p.G676V|UNC5D_ENST00000449677.1_Missense_Mutation_p.G321V|UNC5D_ENST00000420357.1_Missense_Mutation_p.G678V|UNC5D_ENST00000416672.1_Missense_Mutation_p.G750V|UNC5D_ENST00000453357.2_Missense_Mutation_p.G740V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	745					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G740V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATTTCAAAGGGAATACCTTT	0.418																																																1	Substitution - Missense(1)	ovary(1)	8											189	180	183					8																	35616908		2203	4300	6503	35736450	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2234G>T	8.37:g.35616908G>T	ENSP00000385143:p.Gly745Val		35736450	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338477	0.60963	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.56776	0.47;0.91;0.91;0.47;0.44;2.36	5.37	5.37	0.77165	.	0.095386	0.64402	D	0.000001	T	0.66982	0.2845	L	0.59436	1.845	0.80722	D	1	D;D;D	0.65815	0.995;0.983;0.995	P;P;P	0.57911	0.829;0.755;0.573	T	0.68842	-0.5302	10	0.66056	D	0.02	-23.6605	19.4816	0.95013	0.0:0.0:1.0:0.0	.	321;740;745	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	745;678;676;750;740;321	ENSP00000385143:G745V;ENSP00000392739:G678V;ENSP00000287272:G676V;ENSP00000412652:G750V;ENSP00000394303:G740V;ENSP00000397211:G321V	ENSP00000287272:G676V	G	+	2	0	UNC5D	35736450	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.984000	0.56923	2.667000	0.90743	0.561000	0.74099	GGG		0.418	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			T	35616908	G	T	35616908	3	4	318	1	0	0	0	0	1	0	0	0	16995	1232	43	3	2288	3	UNC5D	8	35616908	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08		35616908	110747114	20	16972											
CHMP4C	92421	broad.mit.edu	37	8	82667605	82667605	+	Splice_Site	SNP	G	G	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr8:82667605G>A	ENST00000297265.4	+	3	562	c.369G>A	c.(367-369)atG>atA	p.M123I		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	123	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)	p.M123I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						GATTTCCCAGGGATCTGAACA	0.308																																																1	Substitution - Missense(1)	ovary(1)	8											79	72	74					8																	82667605		2203	4299	6502	82830160	SO:0001630	splice_region_variant	92421			AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.369-1G>A	8.37:g.82667605G>A			82830160	B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622783	0.46840	.	.	ENSG00000164695	ENST00000297265	T	0.74106	-0.81	5.63	4.76	0.60689	.	0.070023	0.85682	D	0.000000	T	0.71392	0.3334	L	0.42744	1.35	0.80722	D	1	B	0.32382	0.368	B	0.40444	0.329	T	0.67440	-0.5670	9	.	.	.	.	14.5195	0.67842	0.0705:0.0:0.9295:0.0	.	123	Q96CF2	CHM4C_HUMAN	I	123	ENSP00000297265:M123I	.	M	+	3	0	CHMP4C	82830160	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.416000	0.66417	1.383000	0.46405	-0.229000	0.12294	ATG		0.308	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284	Missense_Mutation	A	82667605	G	A	82667605	5	1	318	1	0	0	0	0	0	0	1	0	3358	1246	43	2	379	2	CHMP4C	8	82667605	Splice_Site	SNP	G	TCGA-25-2404-01A-01W-0799-08	47050697	82667605	63696417	21	16973											
VPS13B	157680	broad.mit.edu	37	8	100832313	100832313	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr8:100832313T>A	ENST00000358544.2	+	49	9143	c.9032T>A	c.(9031-9033)gTt>gAt	p.V3011D	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.V2986D	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3011					protein transport (GO:0015031)			p.V3011D(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCTACAGGTTCCTGCTGGC	0.353																																					Colon(161;2205 2542 7338 31318)											1	Substitution - Missense(1)	ovary(1)	8											94	102	99					8																	100832313		2203	4300	6503	100901489	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9032T>A	8.37:g.100832313T>A	ENSP00000351346:p.Val3011Asp		100901489	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008929	0.75046	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.80824	-1.42;-1.42	5.92	5.92	0.95590	.	0.138925	0.46442	D	0.000287	T	0.81805	0.4900	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.979	P;P	0.59487	0.858;0.642	D	0.84607	0.0676	10	0.87932	D	0	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	2986;3011	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	D	2986;3011	ENSP00000349685:V2986D;ENSP00000351346:V3011D	ENSP00000349685:V2986D	V	+	2	0	VPS13B	100901489	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.289000	0.72696	2.255000	0.74692	0.533000	0.62120	GTT		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100832313	T	A	100832313	3	1	318	1	0	0	0	0	1	0	0	0	17190	1725	60	5	9416	5	VPS13B	8	100832313	Missense_Mutation	SNP	T	TCGA-25-2404-01A-01W-0799-08	18164708	100832313	45531709	22	16974											
CACNA1B	774	broad.mit.edu	37	9	140954191	140954191	+	Splice_Site	SNP	T	T	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr9:140954191T>A	ENST00000371372.1	+	31	4813		c.e31+2		CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277549.5_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGATTGCGGTAAGTAGCATT	0.468																																																1	Unknown(1)	ovary(1)	9											169	163	165					9																	140954191		1904	4117	6021	140074012	SO:0001630	splice_region_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4668+2T>A	9.37:g.140954191T>A			140074012	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798799	0.90538	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9423	0.79768	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1B	140074012	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.884000	0.87274	2.231000	0.72958	0.454000	0.30748	.		0.468	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	Intron	A	140954191	T	A	140954191	5	1	318	1	0	0	0	0	0	0	1	0	2539	1638	57	5	4792	5	CACNA1B	9	140954191	Splice_Site	SNP	T	TCGA-25-2404-01A-01W-0799-08		140954191	259240	23	16975											
NEBL	10529	broad.mit.edu	37	10	21134191	21134191	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr10:21134191C>T	ENST00000377122.4	-	12	1619	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	408					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.R408K(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGTACCTCCCTCAGAAGGTT	0.333																																																1	Substitution - Missense(1)	ovary(1)	10											99	97	98					10																	21134191		2203	4300	6503	21174197	SO:0001583	missense	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1223G>A	10.37:g.21134191C>T	ENSP00000366326:p.Arg408Lys		21174197	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062745	0.36373	.	.	ENSG00000078114	ENST00000377122	T	0.31247	1.5	5.99	4.95	0.65309	.	0.209202	0.49305	N	0.000151	T	0.09949	0.0244	N	0.01267	-0.92	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08229	-1.0732	10	0.48119	T	0.1	.	3.8039	0.08768	0.0:0.2297:0.0:0.7703	.	408	O76041	NEBL_HUMAN	K	408	ENSP00000366326:R408K	ENSP00000366326:R408K	R	-	2	0	NEBL	21174197	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	2.083000	0.41615	1.296000	0.44742	0.655000	0.94253	AGG		0.333	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		T	21134191	C	T	21134191	3	4	318	1	0	0	0	0	1	0	0	0	10303	681	24	2	1889	2	NEBL	10	21134191	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08		21134191	114400556	24	16976											
SVIL	6840	broad.mit.edu	37	10	29821009	29821009	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr10:29821009G>A	ENST00000355867.4	-	9	2683	c.1931C>T	c.(1930-1932)tCt>tTt	p.S644F	SVIL_ENST00000375398.2_Missense_Mutation_p.S644F|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	644					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.S644F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCACCAGGAGAAAAATAGCG	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											87	87	87					10																	29821009		2203	4300	6503	29861015	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1931C>T	10.37:g.29821009G>A	ENSP00000348128:p.Ser644Phe		29861015	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997607	0.74818	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.57107	0.42;0.42	5.41	5.41	0.78517	.	0.072399	0.56097	D	0.000023	T	0.67325	0.2881	M	0.71581	2.175	0.80722	D	1	D	0.64830	0.994	P	0.55161	0.77	T	0.67764	-0.5586	9	.	.	.	-15.2437	19.2036	0.93720	0.0:0.0:1.0:0.0	.	644	O95425	SVIL_HUMAN	F	644	ENSP00000364547:S644F;ENSP00000348128:S644F	.	S	-	2	0	SVIL	29861015	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.431000	0.52814	2.552000	0.86080	0.655000	0.94253	TCT		0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			A	29821009	G	A	29821009	3	1	318	1	0	0	0	0	1	0	0	0	15421	942	33	2	4833	2	SVIL	10	29821009	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08	8686818	29821009	105713738	25	16977											
IFIT2	3433	broad.mit.edu	37	10	91066305	91066305	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr10:91066305C>G	ENST00000371826.3	+	2	761	c.592C>G	c.(592-594)Ctg>Gtg	p.L198V	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	198					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.L198V(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CATTGACCCTCTGAGGCAAGC	0.502																																																1	Substitution - Missense(1)	ovary(1)	10											51	52	52					10																	91066305		2008	4190	6198	91056285	SO:0001583	missense	3433			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.592C>G	10.37:g.91066305C>G	ENSP00000360891:p.Leu198Val		91056285	Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688648	0.68271	.	.	ENSG00000119922	ENST00000371826	T	0.40756	1.02	4.58	3.61	0.41365	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.171749	0.39407	U	0.001370	T	0.68531	0.3011	M	0.90759	3.145	0.48975	D	0.999736	D	0.89917	1.0	D	0.87578	0.998	T	0.75869	-0.3165	10	0.87932	D	0	-4.8458	12.3288	0.55026	0.0:0.9123:0.0:0.0877	.	198	P09913	IFIT2_HUMAN	V	198	ENSP00000360891:L198V	ENSP00000360891:L198V	L	+	1	2	IFIT2	91056285	0.772000	0.28567	0.934000	0.37439	0.925000	0.55904	1.317000	0.33631	1.422000	0.47177	0.655000	0.94253	CTG		0.502	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		G	91066305	C	G	91066305	3	3	318	1	0	0	0	0	1	0	0	0	7523	912	32	3	598	3	IFIT2	10	91066305	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08	61245296	91066305	44468442	26	16978											
OR51B6	390058	broad.mit.edu	37	11	5373069	5373069	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr11:5373069G>A	ENST00000380219.1	+	1	332	c.332G>A	c.(331-333)gGt>gAt	p.G111D	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	111					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G111D(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGAGTCAGGTGTCTTGCTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											136	128	131					11																	5373069		2201	4297	6498	5329645	SO:0001583	missense	390058				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.332G>A	11.37:g.5373069G>A	ENSP00000369568:p.Gly111Asp		5329645		Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293437	0.23564	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.37584	1.19	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000045	T	0.60573	0.2279	M	0.94021	3.485	0.33308	D	0.565727	P	0.40553	0.721	P	0.46940	0.532	T	0.78368	-0.2231	10	0.87932	D	0	.	17.0455	0.86501	0.0:0.0:1.0:0.0	.	111	Q9H340	O51B6_HUMAN	D	110;111	ENSP00000369568:G111D	ENSP00000369568:G111D	G	+	2	0	OR51B6	5329645	0.000000	0.05858	0.953000	0.39169	0.109000	0.19521	0.867000	0.27968	2.603000	0.88011	0.455000	0.32223	GGT		0.473	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		A	5373069	G	A	5373069	3	1	318	1	0	0	0	0	1	0	0	0	11092	1261	44	2	334	2	OR51B6	11	5373069	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08		5373069	129633447	27	16979											
OAS2	4939	broad.mit.edu	37	12	113442957	113442957	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr12:113442957C>A	ENST00000342315.4	+	7	1612	c.1398C>A	c.(1396-1398)agC>agA	p.S466R	OAS2_ENST00000392583.2_Missense_Mutation_p.S466R|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	466	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.S466R(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGTGCTGAGCTTCTCTCTGA	0.507																																					Pancreas(199;709 2232 18410 33584 35052)											1	Substitution - Missense(1)	ovary(1)	12											87	73	78					12																	113442957		2203	4300	6503	111927340	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1398C>A	12.37:g.113442957C>A	ENSP00000342278:p.Ser466Arg		111927340	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.286530	0.23478	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.09073	3.02;3.02	4.43	1.55	0.23275	.	0.105180	0.41938	D	0.000781	T	0.25901	0.0631	M	0.81802	2.56	0.24352	N	0.994917	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.03706	-1.1011	10	0.72032	D	0.01	-19.9768	8.913	0.35565	0.0:0.7199:0.0:0.2801	.	466;466	P29728;P29728-2	OAS2_HUMAN;.	R	466	ENSP00000342278:S466R;ENSP00000376362:S466R	ENSP00000342278:S466R	S	+	3	2	OAS2	111927340	0.998000	0.40836	0.096000	0.21009	0.047000	0.14425	0.172000	0.16704	-0.009000	0.14296	-0.797000	0.03246	AGC		0.507	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			A	113442957	C	A	113442957	3	1	318	1	0	0	0	0	1	0	0	0	10800	796	28	3	1495	3	OAS2	12	113442957	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08		113442957	20408938	28	16980											
TM6SF1	53346	broad.mit.edu	37	15	83805360	83805360	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr15:83805360C>T	ENST00000322019.9	+	10	1323	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	TM6SF1_ENST00000565774.1_Missense_Mutation_p.A319V|TM6SF1_ENST00000379386.4_Missense_Mutation_p.A353V|TM6SF1_ENST00000379390.6_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	350						integral component of membrane (GO:0016021)		p.A350V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CAGCTCTTGGCCTATCGTTGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	15											128	129	129					15																	83805360		2203	4300	6503	81596364	SO:0001583	missense	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.1049C>T	15.37:g.83805360C>T	ENSP00000317000:p.Ala350Val		81596364	A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858885	0.51376	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384	T;T	0.25912	1.77;1.77	5.49	3.61	0.41365	.	0.239940	0.43747	N	0.000525	T	0.46658	0.1404	M	0.68317	2.08	0.80722	D	1	D;B	0.55605	0.972;0.014	P;B	0.59595	0.86;0.015	T	0.52465	-0.8572	10	0.72032	D	0.01	-13.2447	17.2447	0.87025	0.0:0.9321:0.0:0.0679	.	319;350	E9PD04;Q9BZW5	.;TM6S1_HUMAN	V	350;353;319	ENSP00000317000:A350V;ENSP00000368696:A353V	ENSP00000317000:A350V	A	+	2	0	TM6SF1	81596364	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.081000	0.50120	0.690000	0.31570	-1.316000	0.01300	GCC		0.348	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		T	83805360	C	T	83805360	3	4	318	1	0	0	0	0	1	0	0	0	15972	739	26	2	1087	2	TM6SF1	15	83805360	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08		83805360	18726032	29	16981											
ZP2	7783	broad.mit.edu	37	16	21222865	21222865	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr16:21222865C>A	ENST00000574002.1	-	2	486	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	ZP2_ENST00000219593.4_Missense_Mutation_p.A2S|ZP2_ENST00000574091.1_Missense_Mutation_p.A2S			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	2					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.A2S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGCCTGCACGCCATAGCAGAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	16											136	123	128					16																	21222865		2199	4300	6499	21130366	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.4G>T	16.37:g.21222865C>A	ENSP00000460971:p.Ala2Ser		21130366	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760034	0.49468	.	.	ENSG00000103310	ENST00000219593	T	0.28454	1.61	4.04	1.98	0.26296	.	0.784909	0.11290	N	0.579406	T	0.46034	0.1372	L	0.61218	1.895	0.20074	N	0.999934	D;D;D	0.67145	0.994;0.996;0.996	D;P;P	0.63703	0.917;0.907;0.907	T	0.20538	-1.0272	10	0.72032	D	0.01	-2.1203	6.8161	0.23831	0.2024:0.6019:0.1957:0.0	.	2;2;2	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	S	2	ENSP00000219593:A2S	ENSP00000219593:A2S	A	-	1	0	ZP2	21130366	0.923000	0.31300	0.412000	0.26496	0.007000	0.05969	1.702000	0.37836	0.601000	0.29879	0.655000	0.94253	GCG		0.557	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			A	21222865	C	A	21222865	3	1	318	1	0	0	0	0	1	0	0	0	18216	739	26	3	2309	3	ZP2	16	21222865	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08		21222865	69131888	30	16982											
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000420246.2_Missense_Mutation_p.H214R	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	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)	CACCACACTATGTCGAAAAGT	0.542		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"	98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(1)	17											127	114	119					17																	7578208		2203	4300	6503	7518933	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.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg		7518933	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	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578208	T	C	7578208	3	2	318	1	0	0	0	0	1	0	0	0	16381	1464	51	4	653	4	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-25-2404-01A-01W-0799-08		7578208	73617002	31	16983											
NLRP12	91662	broad.mit.edu	37	19	54301530	54301530	+	Missense_Mutation	SNP	A	A	T			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr19:54301530A>T	ENST00000324134.6	-	8	3062	c.2894T>A	c.(2893-2895)cTg>cAg	p.L965Q	NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Missense_Mutation_p.L966Q|NLRP12_ENST00000391775.3_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.L965Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.L966Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	965					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.L965Q(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGATGTTGCAGCCCCTCAGC	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											62	59	60					19																	54301530		2203	4300	6503	58993342	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2894T>A	19.37:g.54301530A>T	ENSP00000319377:p.Leu965Gln		58993342	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399837	0.42512	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000391773;ENST00000345770	T;T;T	0.63096	-0.02;-0.02;-0.02	4.42	4.42	0.53409	.	0.000000	0.27284	U	0.020076	D	0.86075	0.5846	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89580	0.3820	10	0.87932	D	0	.	10.3073	0.43689	1.0:0.0:0.0:0.0	.	965;965	A8K407;P59046	.;NAL12_HUMAN	Q	965;965;966;966	ENSP00000319377:L965Q;ENSP00000438030:L965Q;ENSP00000375653:L966Q	ENSP00000319377:L965Q	L	-	2	0	NLRP12	58993342	0.987000	0.35691	0.592000	0.28758	0.001000	0.01503	6.008000	0.70739	2.010000	0.58986	0.519000	0.50382	CTG		0.602	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54301530	A	T	54301530	3	4	318	1	0	0	0	0	1	0	0	0	10474	188	7	5	303	5	NLRP12	19	54301530	Missense_Mutation	SNP	A	TCGA-25-2404-01A-01W-0799-08		54301530	4827453	32	16984											
YWHAB	7529	broad.mit.edu	37	20	43532645	43532645	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chr20:43532645C>G	ENST00000372839.3	+	4	586	c.312C>G	c.(310-312)gaC>gaG	p.D104E	YWHAB_ENST00000353703.4_Missense_Mutation_p.D104E|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	104					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.D104E(1)		breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				AGCTGTTGGACAAATATCTTA	0.323																																																1	Substitution - Missense(1)	ovary(1)	20											84	84	84					20																	43532645		2203	4299	6502	42966059	SO:0001583	missense	7529			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"14-3-3 beta", "14-3-3 alpha"	601289	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.312C>G	20.37:g.43532645C>G	ENSP00000361930:p.Asp104Glu		42966059	A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933455	0.34096	.	.	ENSG00000166913	ENST00000353703;ENST00000372839	T;T	0.48522	0.81;0.81	5.74	2.76	0.32466	14-3-3 domain (4);	0.142424	0.64402	D	0.000008	T	0.39064	0.1064	L	0.58925	1.835	0.58432	D	0.999999	B	0.02656	0.0	B	0.12837	0.008	T	0.23013	-1.0200	10	0.36615	T	0.2	-25.3966	6.2123	0.20636	0.0:0.5566:0.0:0.4434	.	104	P31946	1433B_HUMAN	E	104	ENSP00000300161:D104E;ENSP00000361930:D104E	ENSP00000300161:D104E	D	+	3	2	YWHAB	42966059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.256000	0.32921	0.896000	0.36366	0.563000	0.77884	GAC		0.323	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		G	43532645	C	G	43532645	3	3	318	1	0	0	0	0	1	0	0	0	17501	477	17	3	318	3	YWHAB	20	43532645	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08		43532645	19492875	33	16985											
CXorf38	159013	broad.mit.edu	37	X	40496388	40496388	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chrX:40496388C>G	ENST00000327877.5	-	4	518	c.492G>C	c.(490-492)gaG>gaC	p.E164D	CXorf38_ENST00000440784.2_Missense_Mutation_p.E79D|CXorf38_ENST00000378426.1_Missense_Mutation_p.E45D|CXorf38_ENST00000378421.1_Missense_Mutation_p.E45D	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	164								p.E164D(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						AGTGCATGATCTCATTACGAC	0.348																																																1	Substitution - Missense(1)	ovary(1)	X											45	41	42					X																	40496388		2203	4298	6501	40381332	SO:0001583	missense	159013			AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.492G>C	X.37:g.40496388C>G	ENSP00000330488:p.Glu164Asp		40381332	B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065313	0.20067	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.84	1.83	0.25207	.	0.227884	0.35151	N	0.003411	T	0.26557	0.0649	L	0.46157	1.445	0.80722	D	1	B;B	0.17465	0.022;0.006	B;B	0.17433	0.018;0.016	T	0.10177	-1.0641	10	0.22109	T	0.4	-20.0439	0.3578	0.00359	0.2014:0.323:0.1921:0.2835	.	79;164	E7EN46;Q8TB03	.;CX038_HUMAN	D	45;164;45;79	ENSP00000367683:E45D;ENSP00000330488:E164D;ENSP00000367677:E45D;ENSP00000400019:E79D	ENSP00000330488:E164D	E	-	3	2	CXorf38	40381332	0.846000	0.29590	0.997000	0.53966	0.743000	0.42351	-0.329000	0.07935	0.458000	0.26988	0.422000	0.28245	GAG		0.348	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		G	40496388	C	G	40496388	3	3	318	1	0	0	0	0	1	0	0	0	4107	912	32	3	479	3	CXorf38	23	40496388	Missense_Mutation	SNP	C	TCGA-25-2404-01A-01W-0799-08		40496388	114774172	34	16986											
ZMYM3	9203	broad.mit.edu	37	X	70465872	70465872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chrX:70465872G>T	ENST00000353904.2	-	16	2836	c.2649C>A	c.(2647-2649)tgC>tgA	p.C883*	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.C885*|ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.C871*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.C883*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.C885*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	883					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C883*(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGACTTTCTGGCAGTACAGAT	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	X											129	105	113					X																	70465872		2203	4300	6503	70382597	SO:0001587	stop_gained	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2649C>A	X.37:g.70465872G>T	ENSP00000343909:p.Cys883*		70382597	D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	45	12.077040	0.99634	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	.	.	.	5.12	4.25	0.50352	.	0.145353	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-14.3745	9.2104	0.37316	0.1684:0.0:0.8316:0.0	.	.	.	.	X	883;871;883;885;885	.	ENSP00000322845:C883X	C	-	3	2	ZMYM3	70382597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.403000	0.44530	1.147000	0.42369	0.525000	0.51046	TGC		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		T	70465872	G	T	70465872	4	4	318	1	0	0	0	0	0	1	0	0	17701	1195	42	3	1503	3	ZMYM3	23	70465872	Nonsense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08	29969484	70465872	84804688	35	16987											
POU3F4	5456	broad.mit.edu	37	X	82763969	82763969	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chrX:82763969G>T	ENST00000373200.2	+	1	701	c.637G>T	c.(637-639)Gcc>Tcc	p.A213S	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	213	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A213S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CTTCACGCAGGCCGACGTGGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											68	55	59					X																	82763969		2203	4300	6503	82650625	SO:0001583	missense	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.637G>T	X.37:g.82763969G>T	ENSP00000362296:p.Ala213Ser		82650625	B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355440	0.82243	.	.	ENSG00000196767	ENST00000373200	D	0.84070	-1.8	4.99	4.99	0.66335	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.90017	0.6883	M	0.66439	2.03	0.80722	D	1	D	0.53619	0.961	D	0.69307	0.963	D	0.91255	0.5032	10	0.87932	D	0	.	17.333	0.87271	0.0:0.0:1.0:0.0	.	213	P49335	PO3F4_HUMAN	S	213	ENSP00000362296:A213S	ENSP00000362296:A213S	A	+	1	0	POU3F4	82650625	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.558000	0.98132	2.211000	0.71520	0.525000	0.51046	GCC		0.522	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		T	82763969	G	T	82763969	3	4	318	1	0	0	0	0	1	0	0	0	12277	1203	42	3	639	3	POU3F4	23	82763969	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08	12298097	82763969	72506591	36	16988											
NAA10	8260	broad.mit.edu	37	X	153195524	153195524	+	Missense_Mutation	SNP	G	G	T	rs553739759		TCGA-25-2404-01A-01W-0799-08	TCGA-25-2404-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	3701f036-7d05-496d-ad95-a6bbf82d2495	8882dd33-ce2a-4ddb-94bc-763543e8872a	g.chrX:153195524G>T	ENST00000464845.1	-	8	942	c.624C>A	c.(622-624)gaC>gaA	p.D208E	NAA10_ENST00000370009.1_Missense_Mutation_p.D193E|NAA10_ENST00000393710.3_5'Flank|NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000393712.3_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	208					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)	p.D208E(1)		breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GGTCCTTGCTGTCCCCACCAC	0.617																																					Ovarian(94;1099 1433 38814 45882 51063)											1	Substitution - Missense(1)	ovary(1)	X											108	84	92					X																	153195524		2203	4300	6503	152848718	SO:0001583	missense	8260			BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"N(alpha)-acetyltransferase subunits"	18704	protein-coding gene	gene with protein product		300013	"ARD1 homolog, N-acetyltransferase (S. cerevisiae)", "ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.624C>A	X.37:g.153195524G>T	ENSP00000417763:p.Asp208Glu		152848718	A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162125	0.38217	.	.	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.56941	0.43;0.44	5.35	4.49	0.54785	.	0.052011	0.85682	D	0.000000	T	0.33644	0.0870	N	0.19112	0.55	0.37546	D	0.918483	B;B	0.13594	0.008;0.008	B;B	0.11329	0.005;0.006	T	0.18587	-1.0332	10	0.20519	T	0.43	-39.9726	8.593	0.33699	0.1834:0.0:0.8166:0.0	.	193;208	A6NM98;P41227	.;NAA10_HUMAN	E	208;193	ENSP00000417763:D208E;ENSP00000359026:D193E	ENSP00000359026:D193E	D	-	3	2	NAA10	152848718	1.000000	0.71417	0.962000	0.40283	0.963000	0.63663	3.666000	0.54540	1.033000	0.39918	0.523000	0.50628	GAC		0.617	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		T	153195524	G	T	153195524	3	4	318	1	0	0	0	0	1	0	0	0	10116	1368	48	3	87	3	NAA10	23	153195524	Missense_Mutation	SNP	G	TCGA-25-2404-01A-01W-0799-08	70431555	153195524	2075036	37	16989											
OR14C36	127066	broad.mit.edu	37	1	248512740	248512740	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr1:248512740A>C	ENST00000317861.1	+	1	664	c.664A>C	c.(664-666)Acc>Ccc	p.T222P		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T222P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CATCTTTTCGACCGTGCTCGG	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											192	153	166					1																	248512740		2203	4300	6503	246579363	SO:0001583	missense	127066			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.664A>C	1.37:g.248512740A>C	ENSP00000324534:p.Thr222Pro		246579363	Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.340763	0.24339	.	.	ENSG00000177174	ENST00000317861	T	0.00207	8.55	3.91	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.280955	0.25247	N	0.032051	T	0.00666	0.0022	H	0.95816	3.725	0.09310	N	1	D	0.64830	0.994	D	0.71656	0.974	T	0.30001	-0.9993	10	0.87932	D	0	.	7.3069	0.26453	0.6291:0.0:0.3709:0.0	.	222	Q8NHC7	O14CZ_HUMAN	P	222	ENSP00000324534:T222P	ENSP00000324534:T222P	T	+	1	0	OR14C36	246579363	0.000000	0.05858	0.648000	0.29521	0.068000	0.16541	-0.142000	0.10311	0.592000	0.29728	0.324000	0.21423	ACC		0.498	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		C	248512740	A	C	248512740	3	2	319	1	0	0	0	0	1	0	0	0	10946	275	10	5	666	5	OR14C36	1	248512740	Missense_Mutation	SNP	A	TCGA-25-2408-01A-01W-0799-08		248512740	737881	1	16990											
HES1	3280	broad.mit.edu	37	3	193855991	193855991	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr3:193855991C>T	ENST00000232424.3	+	4	1048	c.812C>T	c.(811-813)gCg>gTg	p.A271V		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)		p.A271V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TCGCTTACGGCGGACTCCATG	0.657																																																1	Substitution - Missense(1)	ovary(1)	3											15	17	16					3																	193855991		2191	4280	6471	195338685	SO:0001583	missense	3280			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.812C>T	3.37:g.193855991C>T	ENSP00000232424:p.Ala271Val		195338685	A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000232424.3	37	CCDS3305.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224069	0.58668	.	.	ENSG00000114315	ENST00000232424	T	0.60171	0.21	5.39	5.39	0.77823	.	0.583143	0.16604	N	0.207201	T	0.45935	0.1367	L	0.34521	1.04	0.36934	D	0.892057	P	0.36412	0.552	B	0.24006	0.05	T	0.54430	-0.8295	10	0.39692	T	0.17	-27.0657	18.5087	0.90907	0.0:1.0:0.0:0.0	.	271	Q14469	HES1_HUMAN	V	271	ENSP00000232424:A271V	ENSP00000232424:A271V	A	+	2	0	HES1	195338685	0.952000	0.32445	0.999000	0.59377	0.992000	0.81027	4.271000	0.58902	2.682000	0.91365	0.655000	0.94253	GCG		0.657	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1			T	193855991	C	T	193855991	3	4	319	1	0	0	0	0	1	0	0	0	7065	768	27	1	826	1	HES1	3	193855991	Missense_Mutation	SNP	C	TCGA-25-2408-01A-01W-0799-08		193855991	4166439	2	16991											
RICTOR	253260	broad.mit.edu	37	5	38952518	38952518	+	Silent	SNP	T	T	C			TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr5:38952518T>C	ENST00000357387.3	-	30	2937	c.2907A>G	c.(2905-2907)gtA>gtG	p.V969V	RICTOR_ENST00000503698.1_5'Flank|RICTOR_ENST00000296782.5_Silent_p.V969V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.V969V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CAAGTACATATACACAGGTCC	0.378																																																1	Substitution - coding silent(1)	ovary(1)	5											61	62	62					5																	38952518		2203	4298	6501	38988275	SO:0001819	synonymous_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2907A>G	5.37:g.38952518T>C			38988275		Silent	SNP	ENST00000357387.3	37	CCDS34148.1																																																																																				0.378	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		C	38952518	T	C	38952518	2	2	319	1	0	0	0	0	0	0	0	1	13361	1393	49	4		4	RICTOR	5	38952518	Silent	SNP	T	TCGA-25-2408-01A-01W-0799-08		38952518	141962742	3	16992											
PHF3	23469	broad.mit.edu	37	6	64416112	64416112	+	Silent	SNP	A	A	T			TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr6:64416112A>T	ENST00000262043.3	+	12	3901	c.3561A>T	c.(3559-3561)ccA>ccT	p.P1187P	PHF3_ENST00000393387.1_Silent_p.P1187P			Q92576	PHF3_HUMAN	PHD finger protein 3	1187					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P1187P(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTCCTGCTCCACGGTAATTTT	0.368																																					GBM(135;136 1820 29512 34071 46235)											1	Substitution - coding silent(1)	ovary(1)	6											55	52	53					6																	64416112		2203	4300	6503	64474071	SO:0001819	synonymous_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3561A>T	6.37:g.64416112A>T			64474071	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	CCDS4966.1																																																																																				0.368	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			T	64416112	A	T	64416112	2	4	319	1	0	0	0	0	0	0	0	1	11836	146	6	5		5	PHF3	6	64416112	Silent	SNP	A	TCGA-25-2408-01A-01W-0799-08		64416112	106698955	4	16993											
FAM45A	404636	broad.mit.edu	37	10	120892035	120892035	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr10:120892035G>A	ENST00000361432.2	+	8	837	c.811G>A	c.(811-813)Gca>Aca	p.A271T	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.A120T|FAM45A_ENST00000535029.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	271								p.A271T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AGAGGCCATGGCAATGGGCAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											210	215	213					10																	120892035		2203	4300	6503	120882025	SO:0001583	missense	404636			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.811G>A	10.37:g.120892035G>A	ENSP00000354688:p.Ala271Thr		120882025	B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334107	0.11013	.	.	ENSG00000119979	ENST00000361432;ENST00000544016	.	.	.	5.65	1.91	0.25777	.	0.319926	0.38663	N	0.001601	T	0.10465	0.0256	N	0.02225	-0.63	0.31399	N	0.676868	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.35992	-0.9766	9	0.02654	T	1	.	5.5851	0.17269	0.7032:0.144:0.1527:0.0	.	198;120;263;271	B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6	.;.;.;FA45A_HUMAN	T	271;120	.	ENSP00000354688:A271T	A	+	1	0	FAM45A	120882025	1.000000	0.71417	0.955000	0.39395	0.987000	0.75469	1.539000	0.36104	0.067000	0.16545	-0.302000	0.09304	GCA		0.423	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		A	120892035	G	A	120892035	3	1	319	1	0	0	0	0	1	0	0	0	5564	1203	42	2	841	2	FAM45A	10	120892035	Missense_Mutation	SNP	G	TCGA-25-2408-01A-01W-0799-08		120892035	14642712	5	16994											
CDKN1B	1027	broad.mit.edu	37	12	12871005	12871005	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr12:12871005G>A	ENST00000228872.4	+	1	948	c.232G>A	c.(232-234)Gag>Aag	p.E78K	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Missense_Mutation_p.E78K	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	78					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)	p.E78K(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CGAGTGGCAAGAGGTGGAGAA	0.592																																																1	Substitution - Missense(1)	ovary(1)	12											76	86	82					12																	12871005		2203	4300	6503	12762272	SO:0001583	missense	1027			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.232G>A	12.37:g.12871005G>A	ENSP00000228872:p.Glu78Lys		12762272	Q16307|Q5U0H2|Q9BUS6	Missense_Mutation	SNP	ENST00000228872.4	37	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108103	0.37242	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000396340	D;D	0.83335	-1.71;-1.71	5.4	4.49	0.54785	.	0.327017	0.29280	N	0.012602	T	0.65004	0.2650	N	0.10733	0.035	0.30028	N	0.813755	P	0.35124	0.485	B	0.36922	0.236	T	0.60342	-0.7282	10	0.08837	T	0.75	-22.9136	11.439	0.50086	0.0:0.1619:0.7193:0.1187	.	78	P46527	CDN1B_HUMAN	K	78;27;78	ENSP00000228872:E78K;ENSP00000379629:E78K	ENSP00000228872:E78K	E	+	1	0	CDKN1B	12762272	0.995000	0.38212	0.990000	0.47175	0.998000	0.95712	2.443000	0.44881	2.536000	0.85505	0.650000	0.86243	GAG		0.592	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		A	12871005	G	A	12871005	3	1	319	1	0	0	0	0	1	0	0	0	3159	943	33	2	234	2	CDKN1B	12	12871005	Missense_Mutation	SNP	G	TCGA-25-2408-01A-01W-0799-08		12871005	120980890	6	16995											
C13orf26	122046	broad.mit.edu	37	13	31540436	31540436	+	Nonsense_Mutation	SNP	C	C	T	rs193234818	byFrequency	TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr13:31540436C>T	ENST00000380473.3	+	5	560	c.547C>T	c.(547-549)Cga>Tga	p.R183*	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	183								p.R183*(2)									CACTGAATTCCGAAGGAATTA	0.423													C|||	3	0.000599042	0	0.0014	5008	,	,		17160	0		0	False		,,,				2504	0.002															2	Substitution - Nonsense(2)	ovary(1)|lung(1)	13											80	77	78					13																	31540436		2203	4300	6503	30438436	SO:0001587	stop_gained	122046			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 26"	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.547C>T	13.37:g.31540436C>T	ENSP00000369840:p.Arg183*		30438436		Nonsense_Mutation	SNP	ENST00000380473.3	37	CCDS9339.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.2	4.615390	0.87359	.	.	ENSG00000175664	ENST00000380473	.	.	.	5.41	3.58	0.41010	.	0.100459	0.42821	D	0.000658	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9032	7.5701	0.27902	0.1625:0.7485:0.0:0.089	.	.	.	.	X	183	.	ENSP00000369840:R183X	R	+	1	2	C13orf26	30438436	1.000000	0.71417	0.988000	0.46212	0.709000	0.40893	1.359000	0.34113	1.410000	0.46936	0.650000	0.86243	CGA		0.423	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		T	31540436	C	T	31540436	4	4	319	1	0	0	0	0	0	1	0	0	1722	644	23	1	565	1	C13orf26	13	31540436	Nonsense_Mutation	SNP	C	TCGA-25-2408-01A-01W-0799-08		31540436	83629442	7	16996											
UACA	55075	broad.mit.edu	37	15	70959967	70959967	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr15:70959967C>G	ENST00000322954.6	-	16	3241	c.3056G>C	c.(3055-3057)aGt>aCt	p.S1019T	UACA_ENST00000539319.1_Missense_Mutation_p.S910T|UACA_ENST00000379983.2_Missense_Mutation_p.S1006T|UACA_ENST00000560441.1_Missense_Mutation_p.S1004T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1019					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.S1006T(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCTTCTTCACTGACACTATA	0.373																																																1	Substitution - Missense(1)	ovary(1)	15											104	97	100					15																	70959967		2199	4297	6496	68747021	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3056G>C	15.37:g.70959967C>G	ENSP00000314556:p.Ser1019Thr		68747021	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.245510	0.01481	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.33865	1.39;1.4;1.87	5.82	3.94	0.45596	.	0.499227	0.21524	N	0.073169	T	0.25717	0.0626	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.09377	0.002;0.001;0.001;0.004	T	0.20505	-1.0273	10	0.14252	T	0.57	-4.4818	10.3516	0.43939	0.0:0.791:0.0:0.209	.	910;1019;1019;1006	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	T	1019;1006;910	ENSP00000314556:S1019T;ENSP00000369319:S1006T;ENSP00000438667:S910T	ENSP00000314556:S1019T	S	-	2	0	UACA	68747021	0.000000	0.05858	0.042000	0.18584	0.082000	0.17680	0.130000	0.15850	0.810000	0.34279	0.561000	0.74099	AGT		0.373	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			G	70959967	C	G	70959967	3	3	319	1	0	0	0	0	1	0	0	0	16824	565	20	3	1210	3	UACA	15	70959967	Missense_Mutation	SNP	C	TCGA-25-2408-01A-01W-0799-08		70959967	31571425	8	16997											
EFCAB5	374786	broad.mit.edu	37	17	28417568	28417568	+	Silent	SNP	C	C	A			TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr17:28417568C>A	ENST00000394835.3	+	20	4005	c.3813C>A	c.(3811-3813)ggC>ggA	p.G1271G	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.G1147G	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1271							calcium ion binding (GO:0005509)	p.G1271G(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTAACATCGGCCAAAATAGGA	0.443																																																1	Substitution - coding silent(1)	ovary(1)	17											140	137	138					17																	28417568		1851	4094	5945	25441694	SO:0001819	synonymous_variant	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3813C>A	17.37:g.28417568C>A			25441694	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	CCDS11254.2																																																																																				0.443	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		A	28417568	C	A	28417568	2	1	319	1	0	0	0	0	0	0	0	1	4938	726	26	3		3	EFCAB5	17	28417568	Silent	SNP	C	TCGA-25-2408-01A-01W-0799-08		28417568	52777642	9	16998											
ABCA9	10350	broad.mit.edu	37	17	67028402	67028402	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2408-01A-01W-0799-08	TCGA-25-2408-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2bd1faf5-c689-4c4c-b2bb-e5378031482e	f991bacd-6e6e-4605-8e30-89bf6061c196	g.chr17:67028402C>T	ENST00000340001.4	-	10	1503	c.1292G>A	c.(1291-1293)cGa>cAa	p.R431Q	ABCA9_ENST00000453985.2_Missense_Mutation_p.R431Q|ABCA9_ENST00000370732.2_Missense_Mutation_p.R431Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	431					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R431Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGGAGAACATCGATGTCCATA	0.438																																																1	Substitution - Missense(1)	ovary(1)	17											90	74	79					17																	67028402		2203	4300	6503	64539997	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1292G>A	17.37:g.67028402C>T	ENSP00000342216:p.Arg431Gln		64539997	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584033	0.46110	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88509	-2.21;-2.39	5.05	-2.27	0.06846	.	0.824963	0.09988	N	0.730167	T	0.77772	0.4180	L	0.28014	0.82	0.09310	N	1	B;B	0.23442	0.085;0.025	B;B	0.15870	0.014;0.01	T	0.60596	-0.7232	10	0.23302	T	0.38	.	7.561	0.27851	0.0:0.437:0.1092:0.4538	.	431;431	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	Q	431;414;431;426	ENSP00000342216:R431Q;ENSP00000359767:R431Q	ENSP00000342216:R431Q	R	-	2	0	ABCA9	64539997	0.000000	0.05858	0.001000	0.08648	0.675000	0.39556	-0.903000	0.04084	-0.277000	0.09193	0.609000	0.83330	CGA		0.438	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		T	67028402	C	T	67028402	3	4	319	1	0	0	0	0	1	0	0	0	39	884	31	1	3702	1	ABCA9	17	67028402	Missense_Mutation	SNP	C	TCGA-25-2408-01A-01W-0799-08	38610834	67028402	14166808	10	16999											
PGD	5226	broad.mit.edu	37	1	10477466	10477466	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr1:10477466C>G	ENST00000270776.8	+	10	1047	c.1009C>G	c.(1009-1011)Caa>Gaa	p.Q337E	PGD_ENST00000541529.1_Missense_Mutation_p.Q315E|PGD_ENST00000538557.1_Missense_Mutation_p.Q324E|PGD_ENST00000498356.1_3'UTR	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	337					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.Q337E(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CTCTTACGCTCAAGGCTTTAT	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											199	197	198					1																	10477466		2203	4300	6503	10400053	SO:0001583	missense	5226			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1009C>G	1.37:g.10477466C>G	ENSP00000270776:p.Gln337Glu		10400053	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686770	0.88639	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.61742	0.08;0.08;0.08	4.8	4.8	0.61643	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	D	0.87163	0.2216	10	0.87932	D	0	-18.4202	18.2416	0.89969	0.0:1.0:0.0:0.0	.	315;337;337	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	E	315;283;337;324	ENSP00000442285:Q315E;ENSP00000270776:Q337E;ENSP00000437822:Q324E	ENSP00000270776:Q337E	Q	+	1	0	PGD	10400053	1.000000	0.71417	0.987000	0.45799	0.836000	0.47400	7.683000	0.84093	2.366000	0.80165	0.655000	0.94253	CAA		0.512	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		G	10477466	C	G	10477466	3	3	320	1	0	0	0	0	1	0	0	0	11787	827	29	3	1047	3	PGD	1	10477466	Missense_Mutation	SNP	C	TCGA-25-2409-01A-01W-0799-08		10477466	238773155	1	17000											
TPO	7173	broad.mit.edu	37	2	1488400	1488400	+	Silent	SNP	C	C	T			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr2:1488400C>T	ENST00000345913.4	+	9	1462	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	TPO_ENST00000337415.3_Silent_p.I457I|TPO_ENST00000382198.1_Silent_p.I284I|TPO_ENST00000349624.3_Silent_p.I284I|TPO_ENST00000346956.3_Silent_p.I457I|TPO_ENST00000329066.4_Silent_p.I457I|TPO_ENST00000382201.3_Silent_p.I457I|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	457					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.I457I(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCCCCAGGATCCTGGGACCCG	0.592																																																2	Substitution - coding silent(2)	ovary(1)|skin(1)	2											61	56	58					2																	1488400		2203	4300	6503	1467407	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1371C>T	2.37:g.1488400C>T			1467407	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	c	2.449	-0.326771	0.05350	.	.	ENSG00000115705	ENST00000536482	.	.	.	5.3	1.29	0.21616	.	.	.	.	.	T	0.40595	0.1123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09058	-1.0692	5	0.20046	T	0.44	-27.5985	4.6002	0.12350	0.1417:0.5597:0.0:0.2986	.	.	.	.	S	141	.	ENSP00000439133:P141S	P	+	1	0	TPO	1467407	0.409000	0.25368	0.787000	0.31911	0.179000	0.23085	-0.099000	0.11007	0.240000	0.21263	0.556000	0.70494	CCT		0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1488400	C	T	1488400	2	4	320	1	0	0	0	0	0	0	0	1	16410	845	30	2		2	TPO	2	1488400	Silent	SNP	C	TCGA-25-2409-01A-01W-0799-08		1488400	241710973	2	17001											
SDC1	6382	broad.mit.edu	37	2	20403741	20403741	+	Missense_Mutation	SNP	G	G	A	rs145688161	byFrequency	TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr2:20403741G>A	ENST00000254351.4	-	3	704	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	SDC1_ENST00000403076.1_Missense_Mutation_p.H154Y|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000381150.1_Missense_Mutation_p.H154Y	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	154					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.H154Y(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		ATGTCCCTGTGGGGGTGGGAG	0.667																																																1	Substitution - Missense(1)	ovary(1)	2											87	86	86					2																	20403741		2203	4300	6503	20267222	SO:0001583	missense	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.460C>T	2.37:g.20403741G>A	ENSP00000254351:p.His154Tyr		20267222	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118788	0.20877	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.35048	2.3;2.3;1.33;1.43	3.87	3.87	0.44632	.	0.476710	0.19395	N	0.115308	T	0.50633	0.1627	M	0.73962	2.25	0.18873	N	0.999981	D;D	0.59767	0.986;0.971	P;P	0.54629	0.757;0.693	T	0.45352	-0.9267	10	0.87932	D	0	-8.6825	11.6253	0.51142	0.0:0.0:1.0:0.0	.	154;154	E9PHH3;P18827	.;SDC1_HUMAN	Y	154;154;154;162	ENSP00000254351:H154Y;ENSP00000370542:H154Y;ENSP00000384613:H154Y;ENSP00000400773:H162Y	ENSP00000254351:H154Y	H	-	1	0	SDC1	20267222	0.889000	0.30405	0.243000	0.24186	0.080000	0.17528	1.295000	0.33377	2.456000	0.83038	0.561000	0.74099	CAC		0.667	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		A	20403741	G	A	20403741	3	1	320	1	0	0	0	0	1	0	0	0	13954	1348	47	2	484	2	SDC1	2	20403741	Missense_Mutation	SNP	G	TCGA-25-2409-01A-01W-0799-08	18915341	20403741	222795632	3	17002											
APOB	338	broad.mit.edu	37	2	21225955	21225979	+	Frame_Shift_Del	DEL	CTCAGCATTGTTCTGCAGATTTCTT	CTCAGCATTGTTCTGCAGATTTCTT	-	rs368399716|rs375795401		TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	CTCAGCATTGTTCTGCAGATTTCTT	CTCAGCATTGTTCTGCAGATTTCTT	-	-	CTCAGCATTGTTCTGCAGATTTCTT	CTCAGCATTGTTCTGCAGATTTCTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr2:21225955_21225979delCTCAGCATTGTTCTGCAGATTTCTT	ENST00000233242.1	-	29	12442_12466	c.12315_12339delAAGAAATCTGCAGAACAATGCTGAG	c.(12313-12339)agaagaaatctgcagaacaatgctgagfs	p.RRNLQNNAE4105fs	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4105					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R4105fs*16(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTG	0.498																																																1	Deletion - Frameshift(1)	ovary(1)	2																																								21079484	SO:0001589	frameshift_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12315_12339delAAGAAATCTGCAGAACAATGCTGAG	2.37:g.21225955_21225979delCTCAGCATTGTTCTGCAGATTTCTT	ENSP00000233242:p.Arg4105fs		21079460	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	CCDS1703.1																																																																																				0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			-	21225979	CTCAGCATTGTTCTGCAGATTTCTT	-	21225955	7	5	320	1	0	1	0	1	0	0	0	0	785	564	20	0	1356	0	APOB	2	21225955	Frame_Shift_Del	DEL	CTCAGCATTGTTCTGCAGATTTCTT	TCGA-25-2409-01A-01W-0799-08	822214	21225955	221973418	4	17003											
PTCD3	55037	broad.mit.edu	37	2	86352130	86352130	+	Silent	SNP	C	C	T	rs75290041		TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr2:86352130C>T	ENST00000254630.7	+	10	795	c.729C>T	c.(727-729)aaC>aaT	p.N243N	PTCD3_ENST00000409277.3_Missense_Mutation_p.T202M	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	243					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.N243N(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CAAAAAACAACGCTGAGAGAA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	2											92	88	89					2																	86352130		2203	4300	6503	86205641	SO:0001819	synonymous_variant	55037				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.729C>T	2.37:g.86352130C>T			86205641	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Silent	SNP	ENST00000254630.7	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363985	0.24684	.	.	ENSG00000132300	ENST00000409277	T	0.52754	0.65	5.63	0.486	0.16836	.	.	.	.	.	T	0.47985	0.1475	.	.	.	0.23070	N	0.998347	.	.	.	.	.	.	T	0.45556	-0.9253	6	0.66056	D	0.02	-16.5611	9.7682	0.40574	0.0:0.3615:0.0:0.6385	.	.	.	.	M	202	ENSP00000386462:T202M	ENSP00000386462:T202M	T	+	2	0	PTCD3	86205641	0.998000	0.40836	0.995000	0.50966	0.426000	0.31534	0.290000	0.18975	-0.128000	0.11641	-1.004000	0.02495	ACG		0.358	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		T	86352130	C	T	86352130	2	4	320	1	0	0	0	0	0	0	0	1	12732	535	19	1		1	PTCD3	2	86352130	Silent	SNP	C	TCGA-25-2409-01A-01W-0799-08	65126175	86352130	156847243	5	17004											
SGOL2	151246	broad.mit.edu	37	2	201437638	201437638	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr2:201437638C>G	ENST00000357799.4	+	7	2667	c.2569C>G	c.(2569-2571)Caa>Gaa	p.Q857E		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	857					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.Q857E(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAAATCTACAAGTCACAAA	0.303																																																1	Substitution - Missense(1)	ovary(1)	2											86	84	85					2																	201437638		1806	4066	5872	201145883	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2569C>G	2.37:g.201437638C>G	ENSP00000350447:p.Gln857Glu		201145883	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.109550	0.00032	.	.	ENSG00000163535	ENST00000357799	T	0.09073	3.02	4.7	0.634	0.17718	.	0.599027	0.13993	N	0.348642	T	0.02193	0.0068	N	0.02011	-0.69	0.19575	N	0.999969	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.45934	-0.9227	10	0.02654	T	1	-0.3583	5.8249	0.18548	0.2221:0.2772:0.5007:0.0	.	857;857;857	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	E	857	ENSP00000350447:Q857E	ENSP00000350447:Q857E	Q	+	1	0	SGOL2	201145883	0.025000	0.19082	0.002000	0.10522	0.048000	0.14542	0.134000	0.15932	0.003000	0.14656	0.585000	0.79938	CAA		0.303	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		G	201437638	C	G	201437638	3	3	320	1	0	0	0	0	1	0	0	0	14220	479	17	3	2591	3	SGOL2	2	201437638	Missense_Mutation	SNP	C	TCGA-25-2409-01A-01W-0799-08	115085508	201437638	41761735	6	17005											
IQCA1	79781	broad.mit.edu	37	2	237395522	237395522	+	Missense_Mutation	SNP	G	G	A	rs370868790	byFrequency	TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr2:237395522G>A	ENST00000409907.3	-	5	944	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	IQCA1_ENST00000309507.5_Missense_Mutation_p.R220C|IQCA1_ENST00000431676.2_Missense_Mutation_p.R224C	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	224	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.						ATP binding (GO:0005524)	p.R231C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTTTCCTTACGTTGATGGAAA	0.328													A|||	2	0.000399361	0	0	5008	,	,		20023	0		0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	2						A	CYS/ARG	1,3635		0,1,1817	63	58	59		670	-1.2	0	2		59	0,8166		0,0,4083	no	missense	IQCA1	NM_024726.3	180	0,1,5900	AA,AG,GG		0.0,0.0275,0.0085	benign	224/823	237395522	1,11801	1818	4083	5901	237060261	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.670C>T	2.37:g.237395522G>A	ENSP00000387347:p.Arg224Cys		237060261	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.41|10.41	1.343306|1.343306	0.24339|0.24339	2.75E-4|2.75E-4	0.0|0.0	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.95980|.	-3.71;-3.71;-3.87|.	5.23|5.23	-1.23|-1.23	0.09465|0.09465	.|.	2.136540|.	0.01636|.	N|.	0.023791|.	T|T	0.19927|0.19927	0.0479|0.0479	N|N	0.20574|0.20574	0.59|0.59	0.09310|0.09310	N|N	1|1	B;B;B|.	0.26547|.	0.066;0.019;0.152|.	B;B;B|.	0.24974|.	0.035;0.009;0.057|.	T|T	0.27606|0.27606	-1.0069|-1.0069	10|5	0.42905|.	T|.	0.14|.	.|.	4.7216|4.7216	0.12920|0.12920	0.4703:0.0:0.2144:0.3153|0.4703:0.0:0.2144:0.3153	.|.	224;231;224|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	C|M	224;231;220;224;220|242	ENSP00000387347:R224C;ENSP00000311951:R220C;ENSP00000407213:R224C|.	ENSP00000254653:R224C|.	R|T	-|-	1|2	0|0	IQCA1|IQCA1	237060261|237060261	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-0.284000|-0.284000	0.08422|0.08422	-0.413000|-0.413000	0.07507|0.07507	-0.254000|-0.254000	0.11334|0.11334	CGT|ACG		0.328	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		A	237395522	G	A	237395522	3	1	320	1	0	0	0	0	1	0	0	0	7802	1145	40	1	1858	1	IQCA1	2	237395522	Missense_Mutation	SNP	G	TCGA-25-2409-01A-01W-0799-08	35957884	237395522	5803851	7	17006											
SH3D19	152503	broad.mit.edu	37	4	152048856	152048856	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr4:152048856T>G	ENST00000409252.2	-	19	2877	c.2170A>C	c.(2170-2172)Agt>Cgt	p.S724R	SH3D19_ENST00000455740.1_Missense_Mutation_p.S701R|SH3D19_ENST00000424281.1_Missense_Mutation_p.S665R|SH3D19_ENST00000514152.1_Missense_Mutation_p.S701R|SH3D19_ENST00000409598.4_Missense_Mutation_p.S701R|SH3D19_ENST00000427414.2_Missense_Mutation_p.S665R|SH3D19_ENST00000304527.4_Missense_Mutation_p.S724R			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	724					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.S721R(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAACATACTTTTTGCCTCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											58	53	55					4																	152048856		2203	4300	6503	152268306	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2170A>C	4.37:g.152048856T>G	ENSP00000386848:p.Ser724Arg		152268306	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885319	0.33255	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.84	0.341	0.15991	.	1.304020	0.04837	N	0.439788	T	0.21801	0.0525	L	0.45285	1.41	0.09310	N	1	B;B;B;B	0.29909	0.009;0.261;0.015;0.009	B;B;B;B	0.30105	0.009;0.111;0.043;0.005	T	0.20174	-1.0283	10	0.15499	T	0.54	0.7575	1.4112	0.02292	0.1196:0.239:0.2716:0.3698	.	724;701;665;479	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	R	701;724;701;665;665;724;701	ENSP00000387030:S701R;ENSP00000302913:S724R;ENSP00000416708:S701R;ENSP00000404542:S665R;ENSP00000415694:S665R;ENSP00000386848:S724R;ENSP00000423449:S701R	ENSP00000302913:S724R	S	-	1	0	SH3D19	152268306	0.003000	0.15002	0.196000	0.23383	0.800000	0.45204	-0.168000	0.09925	0.435000	0.26365	0.482000	0.46254	AGT		0.363	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		G	152048856	T	G	152048856	3	3	320	1	0	0	0	0	1	0	0	0	14252	1609	56	5	210	5	SH3D19	4	152048856	Missense_Mutation	SNP	T	TCGA-25-2409-01A-01W-0799-08		152048856	39105420	8	17007											
THBS2	7058	broad.mit.edu	37	6	169650827	169650827	+	Splice_Site	SNP	C	C	T			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr6:169650827C>T	ENST00000366787.3	-	3	302		c.e3+1			NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2						cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.?(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGGACACTCACCTTGCGTGCT	0.542																																					Esophageal Squamous(91;219 1934 18562 44706)											1	Unknown(1)	ovary(1)	6											58	49	52					6																	169650827		2203	4300	6503	169392752	SO:0001630	splice_region_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.52+1G>A	6.37:g.169650827C>T			169392752	A6H8N1|A7E232|Q5RI52	Splice_Site	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879802	0.33162	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3763	0.60741	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THBS2	169392752	1.000000	0.71417	0.997000	0.53966	0.313000	0.28021	3.140000	0.50585	2.515000	0.84797	0.655000	0.94253	.		0.542	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	Intron	T	169650827	C	T	169650827	5	4	320	1	0	0	0	0	0	0	1	0	15854	521	18	2	3549	2	THBS2	6	169650827	Splice_Site	SNP	C	TCGA-25-2409-01A-01W-0799-08		169650827	1464240	9	17008											
PCM1	5108	broad.mit.edu	37	8	17872112	17872112	+	Silent	SNP	T	T	C			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr8:17872112T>C	ENST00000519253.1	+	36	5831	c.5580T>C	c.(5578-5580)ccT>ccC	p.P1860P	PCM1_ENST00000524226.1_Intron|PCM1_ENST00000327578.8_Silent_p.P567P|PCM1_ENST00000325083.8_Silent_p.P1868P			Q15154	PCM1_HUMAN	pericentriolar material 1	1868				PLEREATSKNDQ -> HWNEKPLVKMTK (in Ref. 1; AAA60120). {ECO:0000305}.	centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.P1868P(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATAACTGTCCTGTGAAACCCT	0.348			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	1	Substitution - coding silent(1)	ovary(1)	8											87	82	84					8																	17872112		1853	4091	5944	17916392	SO:0001819	synonymous_variant	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5580T>C	8.37:g.17872112T>C			17916392	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	T	9.066	0.995798	0.19043	.	.	ENSG00000078674	ENST00000522275	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	T	0.61451	0.2348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59888	-0.7369	4	.	.	.	-18.7573	10.2813	0.43541	0.1566:0.0:0.0:0.8434	.	.	.	.	P	608	.	.	L	+	2	0	PCM1	17916392	0.992000	0.36948	1.000000	0.80357	0.986000	0.74619	0.791000	0.26915	2.371000	0.80710	0.533000	0.62120	CTG		0.348	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		C	17872112	T	C	17872112	2	2	320	1	0	0	0	0	0	0	0	1	11584	1567	55	4		4	PCM1	8	17872112	Silent	SNP	T	TCGA-25-2409-01A-01W-0799-08		17872112	128491910	10	17009											
VPS13B	157680	broad.mit.edu	37	8	100866458	100866458	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr8:100866458A>G	ENST00000358544.2	+	56	11027	c.10916A>G	c.(10915-10917)tAt>tGt	p.Y3639C	VPS13B_ENST00000357162.2_Missense_Mutation_p.Y3614C|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3639					protein transport (GO:0015031)			p.Y3639C(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAATGCACTATGCCGCTGGG	0.552																																					Colon(161;2205 2542 7338 31318)											1	Substitution - Missense(1)	ovary(1)	8											62	53	56					8																	100866458		2203	4300	6503	100935634	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10916A>G	8.37:g.100866458A>G	ENSP00000351346:p.Tyr3639Cys		100935634	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041915	0.75732	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.88975	-2.43;-2.45	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.94272	0.8160	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	0.963;1.0	P;D	0.85130	0.761;0.997	D	0.94947	0.8096	10	0.87932	D	0	.	15.618	0.76784	1.0:0.0:0.0:0.0	.	3614;3639	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	C	3614;3639	ENSP00000349685:Y3614C;ENSP00000351346:Y3639C	ENSP00000349685:Y3614C	Y	+	2	0	VPS13B	100935634	1.000000	0.71417	0.979000	0.43373	0.915000	0.54546	8.701000	0.91331	2.073000	0.62155	0.528000	0.53228	TAT		0.552	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100866458	A	G	100866458	3	3	320	1	0	0	0	0	1	0	0	0	17190	449	16	4	11328	4	VPS13B	8	100866458	Missense_Mutation	SNP	A	TCGA-25-2409-01A-01W-0799-08	82994346	100866458	45497564	11	17010											
S1PR3	1903	broad.mit.edu	37	9	91616533	91616533	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr9:91616533A>G	ENST00000375846.3	+	1	5113	c.418A>G	c.(418-420)Atg>Gtg	p.M140V	S1PR3_ENST00000358157.2_Missense_Mutation_p.M140V			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	140					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.M140V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GCACTTGACAATGATCAAAAT	0.607											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	9											123	95	105					9																	91616533		2203	4300	6503	90806353	SO:0001583	missense	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3167	protein-coding gene	gene with protein product	"sphingosine-1-phosphate receptor 3"	601965	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.418A>G	9.37:g.91616533A>G	ENSP00000365006:p.Met140Val	1283	90806353	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533113	0.64972	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.64260	-0.09;-0.09	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	N	0.19112	0.55	0.58432	D	0.999998	D	0.63046	0.992	D	0.76071	0.987	T	0.65788	-0.6083	10	0.33940	T	0.23	.	14.9483	0.71050	1.0:0.0:0.0:0.0	.	140	Q99500	S1PR3_HUMAN	V	140	ENSP00000350878:M140V;ENSP00000365006:M140V	ENSP00000350878:M140V	M	+	1	0	S1PR3	90806353	1.000000	0.71417	0.982000	0.44146	0.832000	0.47134	8.971000	0.93419	2.117000	0.64856	0.459000	0.35465	ATG		0.607	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		G	91616533	A	G	91616533	3	3	320	1	0	0	0	0	1	0	0	0	13798	101	4	4	420	4	S1PR3	9	91616533	Missense_Mutation	SNP	A	TCGA-25-2409-01A-01W-0799-08		91616533	49596898	12	17011											
HABP4	22927	broad.mit.edu	37	9	99220728	99220728	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr9:99220728G>A	ENST00000375249.4	+	2	492	c.417G>A	c.(415-417)atG>atA	p.M139I	HABP4_ENST00000375251.3_Missense_Mutation_p.M139I	NM_014282.2	NP_055097.2			hyaluronan binding protein 4									p.M139I(1)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGGAGGGGATGCTCGAAAGAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	9											96	96	96					9																	99220728		2203	4300	6503	98260549	SO:0001583	missense	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.417G>A	9.37:g.99220728G>A	ENSP00000364398:p.Met139Ile		98260549		Missense_Mutation	SNP	ENST00000375249.4	37	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	2.407	-0.336304	0.05278	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.29397	1.57;1.61	4.58	-8.46	0.00942	.	0.889945	0.09876	N	0.744274	T	0.10035	0.0246	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.29027	-1.0025	10	0.38643	T	0.18	2.664	7.0343	0.24985	0.6301:0.0882:0.1935:0.0883	.	139;139	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	I	139	ENSP00000364400:M139I;ENSP00000364398:M139I	ENSP00000364398:M139I	M	+	3	0	HABP4	98260549	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.969000	0.03813	-2.013000	0.00949	-1.339000	0.01253	ATG		0.532	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		A	99220728	G	A	99220728	3	1	320	1	0	0	0	0	1	0	0	0	6939	1319	46	2	423	2	HABP4	9	99220728	Missense_Mutation	SNP	G	TCGA-25-2409-01A-01W-0799-08	7604195	99220728	41992703	13	17012											
OR1L1	26737	broad.mit.edu	37	9	125424243	125424243	+	Silent	SNP	G	G	A			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr9:125424243G>A	ENST00000373686.1	+	1	399	c.399G>A	c.(397-399)gtG>gtA	p.V133V	OR1L1_ENST00000309623.1_Silent_p.V83V			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V133V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGATGCTGGTGAACTTCTTAT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	9											194	188	190					9																	125424243		2203	4300	6503	124464064	SO:0001819	synonymous_variant	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.399G>A	9.37:g.125424243G>A			124464064	Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37																																																																																					0.438	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				A	125424243	G	A	125424243	2	1	320	1	0	0	0	0	0	0	0	1	10963	1277	45	2		2	OR1L1	9	125424243	Silent	SNP	G	TCGA-25-2409-01A-01W-0799-08	26203515	125424243	15789188	14	17013											
MAPK8IP1	9479	broad.mit.edu	37	11	45925671	45925671	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr11:45925671A>G	ENST00000241014.2	+	7	1795	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.Y532C	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	542	Interaction with VRK2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.Y542C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TTTCCTGCCTATTACGCCATC	0.602																																																1	Substitution - Missense(1)	ovary(1)	11											84	67	73					11																	45925671		2203	4299	6502	45882247	SO:0001583	missense	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1625A>G	11.37:g.45925671A>G	ENSP00000241014:p.Tyr542Cys		45882247	D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485060	0.63962	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.48201	0.82;0.82	5.19	5.19	0.71726	Src homology-3 domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	L	0.36672	1.1	0.80722	D	1	P	0.38250	0.624	B	0.37601	0.254	T	0.44757	-0.9307	10	0.66056	D	0.02	-30.3091	15.3348	0.74244	1.0:0.0:0.0:0.0	.	542	Q9UQF2	JIP1_HUMAN	C	542;532	ENSP00000241014:Y542C;ENSP00000378991:Y532C	ENSP00000241014:Y542C	Y	+	2	0	MAPK8IP1	45882247	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.720000	0.47252	2.086000	0.62901	0.459000	0.35465	TAT		0.602	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		G	45925671	A	G	45925671	3	3	320	1	0	0	0	0	1	0	0	0	9284	449	16	4	1651	4	MAPK8IP1	11	45925671	Missense_Mutation	SNP	A	TCGA-25-2409-01A-01W-0799-08		45925671	89080845	15	17014											
MBD6	114785	broad.mit.edu	37	12	57919795	57919795	+	Silent	SNP	C	C	G			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr12:57919795C>G	ENST00000355673.3	+	6	1400	c.1044C>G	c.(1042-1044)gcC>gcG	p.A348A	MBD6_ENST00000431731.2_Silent_p.A348A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	348	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A348A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGCCCCGTGCCCAGGCACCCT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	12											44	47	46					12																	57919795		2203	4300	6503	56206062	SO:0001819	synonymous_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1044C>G	12.37:g.57919795C>G			56206062	Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	CCDS8944.1																																																																																				0.632	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			G	57919795	C	G	57919795	2	3	320	1	0	0	0	0	0	0	0	1	9348	610	22	3		3	MBD6	12	57919795	Silent	SNP	C	TCGA-25-2409-01A-01W-0799-08		57919795	75932100	16	17015											
OR4N2	390429	broad.mit.edu	37	14	20295920	20295920	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr14:20295920C>T	ENST00000315947.1	+	1	313	c.313C>T	c.(313-315)Cac>Tac	p.H105Y	OR4N2_ENST00000568211.1_Missense_Mutation_p.H105Y	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H105Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTTTCTTGCACTTCCTTGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											109	123	118					14																	20295920		2203	4298	6501	19365760	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.313C>T	14.37:g.20295920C>T	ENSP00000319601:p.His105Tyr		19365760	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	17.28	3.349661	0.61183	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00547	6.66;6.66	4.53	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.02304	0.0071	M	0.85859	2.78	0.28373	N	0.919929	D	0.89917	1.0	D	0.91635	0.999	T	0.03325	-1.1048	10	0.87932	D	0	-17.4051	11.8403	0.52350	0.1768:0.8232:0.0:0.0	.	105	Q8NGD1	OR4N2_HUMAN	Y	105	ENSP00000452022:H105Y;ENSP00000319601:H105Y	ENSP00000319601:H105Y	H	+	1	0	OR4N2	19365760	0.000000	0.05858	1.000000	0.80357	0.879000	0.50718	-0.219000	0.09228	1.215000	0.43411	0.591000	0.81541	CAC		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			T	20295920	C	T	20295920	3	4	320	1	0	0	0	0	1	0	0	0	11077	710	25	2	315	2	OR4N2	14	20295920	Missense_Mutation	SNP	C	TCGA-25-2409-01A-01W-0799-08		20295920	87053620	17	17016											
MYH7	4625	broad.mit.edu	37	14	23895227	23895227	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr14:23895227C>T	ENST00000355349.3	-	19	2270	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	703	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R703H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTGCAGATGCGGATGCCCTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	14											58	54	56					14																	23895227		2203	4300	6503	22965067	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2108G>A	14.37:g.23895227C>T	ENSP00000347507:p.Arg703His		22965067	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695949	0.96802	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90732	-2.72	5.03	5.03	0.67393	Myosin head, motor domain (2);	.	.	.	.	D	0.97198	0.9084	H	0.98612	4.28	0.80722	D	1	D	0.60575	0.988	D	0.63113	0.911	D	0.98737	1.0715	9	0.87932	D	0	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	703	P12883	MYH7_HUMAN	H	703	ENSP00000347507:R703H	ENSP00000347507:R703H	R	-	2	0	MYH7	22965067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.612000	0.88384	0.655000	0.94253	CGC		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23895227	C	T	23895227	3	4	320	1	0	0	0	0	1	0	0	0	10039	768	27	1	3787	1	MYH7	14	23895227	Missense_Mutation	SNP	C	TCGA-25-2409-01A-01W-0799-08	3599307	23895227	83454313	18	17017											
LRFN5	145581	broad.mit.edu	37	14	42356011	42356011	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr14:42356011T>A	ENST00000298119.4	+	3	1372	c.183T>A	c.(181-183)aaT>aaA	p.N61K	LRFN5_ENST00000554171.1_Missense_Mutation_p.N61K|LRFN5_ENST00000554120.1_Missense_Mutation_p.N61K	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	61						integral component of membrane (GO:0016021)		p.N61K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGCAGACAATTTTGTTACAA	0.383										HNSCC(30;0.082)																																						1	Substitution - Missense(1)	ovary(1)	14											57	53	54					14																	42356011		2203	4300	6503	41425761	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.183T>A	14.37:g.42356011T>A	ENSP00000298119:p.Asn61Lys		41425761	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921829	0.52653	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.60920	0.15;0.15;0.15	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000011	D	0.83963	0.5368	H	0.97440	4.005	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89340	0.3653	10	0.87932	D	0	.	13.6661	0.62396	0.0:0.0:0.0:1.0	.	61;61	G3V364;Q96NI6	.;LRFN5_HUMAN	K	61	ENSP00000298119:N61K;ENSP00000451897:N61K;ENSP00000451067:N61K	ENSP00000298119:N61K	N	+	3	2	LRFN5	41425761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.650000	0.37292	2.098000	0.63641	0.528000	0.53228	AAT		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		A	42356011	T	A	42356011	3	1	320	1	0	0	0	0	1	0	0	0	8941	1490	52	5	185	5	LRFN5	14	42356011	Missense_Mutation	SNP	T	TCGA-25-2409-01A-01W-0799-08	18460784	42356011	64993529	19	17018											
DNAJA3	9093	broad.mit.edu	37	16	4491520	4491520	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr16:4491520G>A	ENST00000262375.6	+	4	651	c.574G>A	c.(574-576)Gag>Aag	p.E192K	DNAJA3_ENST00000431375.2_Missense_Mutation_p.E39K|DNAJA3_ENST00000355296.4_Missense_Mutation_p.E192K	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	192					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)	p.E192K(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GATCTTTGGCGAGTTCTCATC	0.507																																																1	Substitution - Missense(1)	ovary(1)	16											79	77	78					16																	4491520		2197	4300	6497	4431521	SO:0001583	missense	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.574G>A	16.37:g.4491520G>A	ENSP00000262375:p.Glu192Lys		4431521	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705343	0.89018	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.72942	-0.7;-0.7;0.94	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.999	D;P;D	0.75484	0.986;0.815;0.91	D	0.86293	0.1675	10	0.72032	D	0.01	-32.6895	19.3278	0.94270	0.0:0.0:1.0:0.0	.	39;192;192	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	K	192;192;39	ENSP00000262375:E192K;ENSP00000347445:E192K;ENSP00000393970:E39K	ENSP00000262375:E192K	E	+	1	0	DNAJA3	4431521	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.804000	0.99143	2.811000	0.96726	0.558000	0.71614	GAG		0.507	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			A	4491520	G	A	4491520	3	1	320	1	0	0	0	0	1	0	0	0	4613	1059	37	1	588	1	DNAJA3	16	4491520	Missense_Mutation	SNP	G	TCGA-25-2409-01A-01W-0799-08		4491520	85863233	20	17019											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-25-2409-01A-01W-0799-08	TCGA-25-2409-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0ca83dad-7136-4e7e-b613-11999a100ec9	6c109d04-f6cd-40ac-af34-b40427cdc2ce	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	7518264	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	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	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	320	1	0	0	0	0	1	0	0	0	16381	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-25-2409-01A-01W-0799-08		7577539	73617671	21	17020											
KCNH1	3756	genome.wustl.edu	37	1	210970949	210970949	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr1:210970949C>T	ENST00000271751.4	-	9	1843	c.1816G>A	c.(1816-1818)Gac>Aac	p.D606N	KCNH1_ENST00000367007.4_Missense_Mutation_p.D579N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	606					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TAGATGAGGTCCCCTGGGGCA	0.612																																																0			1											81	82	82					1																	210970949		2203	4300	6503	209037572	SO:0001583	missense	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1816G>A	1.37:g.210970949C>T	ENSP00000271751:p.Asp606Asn		209037572	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372182	0.95923	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97138	-4.26;-4.26	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.096811	0.64402	D	0.000001	D	0.98814	0.9600	M	0.92219	3.285	0.80722	D	1	D;D	0.63880	0.993;0.966	D;D	0.68192	0.956;0.956	D	0.99659	1.0993	10	0.87932	D	0	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	579;606	Q14CL3;O95259	.;KCNH1_HUMAN	N	606;579	ENSP00000271751:D606N;ENSP00000355974:D579N	ENSP00000271751:D606N	D	-	1	0	KCNH1	209037572	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	GAC		0.612	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	210970949	C	T	210970949	3	4	321	1	0	0	0	0	1	0	0	0	8031	855	30	2	1165	2	KCNH1	1	210970949	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09		210970949	38279672	1	17021											
ITPKB	3707	genome.wustl.edu	37	1	226923900	226923900	+	Silent	SNP	G	G	A			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr1:226923900G>A	ENST00000272117.3	-	1	1259	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	ITPKB_ENST00000366784.1_Silent_p.S420S|ITPKB_ENST00000429204.1_Silent_p.S420S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	420					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGGCCTACGGAGGCCAGGG	0.677																																					Colon(84;110 1851 5306 33547)											0			1											18	22	21					1																	226923900		2133	4269	6402	224990523	SO:0001819	synonymous_variant	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1260C>T	1.37:g.226923900G>A			224990523	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	CCDS1555.1																																																																																				0.677	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		A	226923900	G	A	226923900	2	1	321	1	0	0	0	0	0	0	0	1	7918	1103	39	1		1	ITPKB	1	226923900	Silent	SNP	G	TCGA-29-1688-01A-01W-0633-09	15952951	226923900	22326721	2	17022											
TRIM58	25893	genome.wustl.edu	37	1	248039460	248039460	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr1:248039460C>T	ENST00000366481.3	+	6	1178	c.1130C>T	c.(1129-1131)cCt>cTt	p.P377L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	377	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACGCCATCTCCTGAGAATGGG	0.572																																																0			1											111	111	111					1																	248039460		2203	4300	6503	246106083	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1130C>T	1.37:g.248039460C>T	ENSP00000355437:p.Pro377Leu		246106083	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618430	0.46736	.	.	ENSG00000162722	ENST00000366481	T	0.70516	-0.49	4.05	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000026	D	0.84247	0.5430	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86690	0.1922	10	0.87932	D	0	.	14.5446	0.68020	0.0:1.0:0.0:0.0	.	377	Q8NG06	TRI58_HUMAN	L	377	ENSP00000355437:P377L	ENSP00000355437:P377L	P	+	2	0	TRIM58	246106083	0.883000	0.30277	0.303000	0.25071	0.182000	0.23217	4.227000	0.58612	2.559000	0.86315	0.650000	0.86243	CCT		0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248039460	C	T	248039460	3	4	321	1	0	0	0	0	1	0	0	0	16531	681	24	2	1152	2	TRIM58	1	248039460	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	21115560	248039460	1211161	3	17023											
OR2G6	391211	genome.wustl.edu	37	1	248685102	248685115	+	Frame_Shift_Del	DEL	ACTCCAGACTCCAC	ACTCCAGACTCCAC	-			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	ACTCCAGACTCCAC	ACTCCAGACTCCAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr1:248685102_248685115delACTCCAGACTCCAC	ENST00000343414.4	+	1	187_200	c.155_168delACTCCAGACTCCAC	c.(154-168)gactccagactccacfs	p.DSRLH52fs		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S53Y(2)|p.L55V(1)|p.S53S(1)|p.S53*(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTTGTCTGGACTCCAGACTCCACACTCCAATGT	0.472																																																5	Substitution - Missense(3)|Substitution - Nonsense(1)|Substitution - coding silent(1)	lung(5)	1																																								246751738	SO:0001589	frameshift_variant	391211				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.155_168delACTCCAGACTCCAC	1.37:g.248685102_248685115delACTCCAGACTCCAC	ENSP00000341291:p.Asp52fs		246751725	B2RP33	Frame_Shift_Del	DEL	ENST00000343414.4	37	CCDS31119.1																																																																																				0.472	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		-	248685115	ACTCCAGACTCCAC	-	248685102	7	5	321	1	0	1	0	1	0	0	0	0	11000	275	10	0	157	0	OR2G6	1	248685102	Frame_Shift_Del	DEL	ACTCCAGACTCCAC	TCGA-29-1688-01A-01W-0633-09	645642	248685102	565519	4	17024											
XDH	7498	genome.wustl.edu	37	2	31596748	31596748	+	Missense_Mutation	SNP	C	C	A	rs183162063		TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr2:31596748C>A	ENST00000379416.3	-	16	1725	c.1677G>T	c.(1675-1677)caG>caT	p.Q559H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	559					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTTGGAAGAGCTGGACATCGG	0.498													C|||	1	0.000199681	0	0	5008	,	,		18590	0.001		0	False		,,,				2504	0				Colon(66;682 1445 30109 40147)											0			2											48	46	47					2																	31596748		2203	4300	6503	31450252	SO:0001583	missense	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1677G>T	2.37:g.31596748C>A	ENSP00000368727:p.Gln559His		31450252	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.380	0.837375	0.16891	.	.	ENSG00000158125	ENST00000379416	T	0.11712	2.75	5.75	4.88	0.63580	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (1);	0.160911	0.56097	N	0.000026	T	0.22166	0.0534	M	0.90309	3.105	0.58432	D	0.999998	B	0.10296	0.003	B	0.15052	0.012	T	0.02220	-1.1193	10	0.72032	D	0.01	.	12.8994	0.58117	0.1197:0.8144:0.0:0.0659	.	559	P47989	XDH_HUMAN	H	559	ENSP00000368727:Q559H	ENSP00000368727:Q559H	Q	-	3	2	XDH	31450252	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	1.228000	0.32588	0.787000	0.33731	-0.808000	0.03180	CAG		0.498	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31596748	C	A	31596748	3	1	321	1	0	0	0	0	1	0	0	0	17426	796	28	3	2408	3	XDH	2	31596748	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09		31596748	211602625	5	17025											
PSMD14	10213	genome.wustl.edu	37	2	162175361	162175372	+	In_Frame_Del	DEL	GGAGGTATGCCT	GGAGGTATGCCT	-	rs202245412		TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	GGAGGTATGCCT	GGAGGTATGCCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr2:162175361_162175372delGGAGGTATGCCT	ENST00000409682.3	+	3	729_740	c.25_36delGGAGGTATGCCT	c.(25-36)ggaggtatgcctdel	p.GGMP9del		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)	p.P12P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						TAGACTTGGAGGAGGTATGCCTGGACTGGGCC	0.358																																																1	Substitution - coding silent(1)	endometrium(1)	2																																								161883618	SO:0001651	inframe_deletion	10213			U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"Proteasome (prosome, macropain) subunits"	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.25_36delGGAGGTATGCCT	2.37:g.162175361_162175372delGGAGGTATGCCT	ENSP00000386541:p.Gly9_Pro12del		161883607	B3KNW2|O00176	In_Frame_Del	DEL	ENST00000409682.3	37	CCDS46437.1																																																																																				0.358	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		-	162175372	GGAGGTATGCCT	-	162175361	7	5	321	1	0	1	0	1	0	0	0	0	12700	1001	35	0	27	0	PSMD14	2	162175361	In_Frame_Del	DEL	GGAGGTATGCCT	TCGA-29-1688-01A-01W-0633-09	130578613	162175361	81024012	6	17026											
NRP2	8828	genome.wustl.edu	37	2	206641244	206641244	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr2:206641244C>G	ENST00000357118.4	+	16	2731	c.2700C>G	c.(2698-2700)caC>caG	p.H900Q	NRP2_ENST00000272849.3_Missense_Mutation_p.H905Q|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540841.1_Intron	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GTGGCTCGCACTGCTGAGGGC	0.527											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			2											79	75	76					2																	206641244		2203	4300	6503	206349489	SO:0001583	missense	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2700C>G	2.37:g.206641244C>G	ENSP00000349632:p.His900Gln	2161	206349489	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357118.4	37	CCDS46498.1	.	.	.	.	.	.	.	.	.	.	C	2.111	-0.403849	0.04832	.	.	ENSG00000118257	ENST00000357118;ENST00000272849	D;D	0.86694	-2.15;-2.16	5.42	4.49	0.54785	.	.	.	.	.	T	0.81437	0.4822	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.78028	-0.2364	8	0.54805	T	0.06	.	10.9926	0.47557	0.0:0.6948:0.2294:0.0759	.	900;905	O60462-4;O60462-5	.;.	Q	900;905	ENSP00000349632:H900Q;ENSP00000272849:H905Q	ENSP00000272849:H905Q	H	+	3	2	NRP2	206349489	0.994000	0.37717	0.999000	0.59377	0.480000	0.33159	0.482000	0.22276	2.537000	0.85549	0.655000	0.94253	CAC		0.527	NRP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336465.1			G	206641244	C	G	206641244	3	3	321	1	0	0	0	0	1	0	0	0	10661	564	20	3	2804	3	NRP2	2	206641244	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	44465883	206641244	36558129	7	17027											
C2orf80	389073	genome.wustl.edu	37	2	209036792	209036792	+	Missense_Mutation	SNP	C	C	T	rs199911442		TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr2:209036792C>T	ENST00000341287.4	-	7	569	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	C2orf80_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Missense_Mutation_p.R106Q	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	125										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						AGATGAAACTCGGGGAACCTG	0.473													C|||	1	0.000199681	0	0	5008	,	,		19880	0.001		0	False		,,,				2504	0															0			2											180	187	185					2																	209036792		1947	4155	6102	208745037	SO:0001583	missense	389073			AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"gonad development associated 1"	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.374G>A	2.37:g.209036792C>T	ENSP00000343171:p.Arg125Gln		208745037	A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833949	0.16820	.	.	ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000423952	T;T;T;T	0.37235	1.23;1.71;1.64;1.21	5.12	2.25	0.28309	.	0.338343	0.21632	N	0.071479	T	0.19167	0.0460	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.12837	0.008	T	0.19745	-1.0296	10	0.20046	T	0.44	-0.2042	6.965	0.24617	0.0:0.6229:0.0:0.3771	.	125	Q0P641	CB080_HUMAN	Q	50;125;106;38	ENSP00000389385:R50Q;ENSP00000343171:R125Q;ENSP00000405393:R106Q;ENSP00000413016:R38Q	ENSP00000343171:R125Q	R	-	2	0	C2orf80	208745037	0.001000	0.12720	0.094000	0.20943	0.302000	0.27658	-0.394000	0.07296	0.376000	0.24707	0.557000	0.71058	CGA		0.473	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		T	209036792	C	T	209036792	3	4	321	1	0	0	0	0	1	0	0	0	2197	884	31	1	219	1	C2orf80	2	209036792	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	2395548	209036792	34162581	8	17028											
CCDC108	255101	genome.wustl.edu	37	2	219896026	219896026	+	Splice_Site	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr2:219896026C>T	ENST00000341552.5	-	8	900	c.817G>A	c.(817-819)Gac>Aac	p.D273N	CCDC108_ENST00000409865.3_Splice_Site_p.D262N|CCDC108_ENST00000441968.1_Splice_Site_p.D273N|CCDC108_ENST00000453220.1_Splice_Site_p.D273N|CCDC108_ENST00000410037.1_Splice_Site_p.D208N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	273						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGGCAGGTCCCTGGGGGTG	0.667																																																0			2											21	26	24					2																	219896026		2203	4300	6503	219604270	SO:0001630	splice_region_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.816-1G>A	2.37:g.219896026C>T			219604270	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	31	5.065039	0.93898	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07908	3.43;3.43;3.43;3.15;3.15	5.37	5.37	0.77165	PapD-like (1);	0.154505	0.30043	N	0.010541	T	0.29749	0.0743	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	T	0.01444	-1.1353	10	0.27082	T	0.32	-27.8536	17.2845	0.87137	0.0:1.0:0.0:0.0	.	262;273	E9PG25;Q6ZU64	.;CC108_HUMAN	N	273;273;273;262;208;207	ENSP00000340776:D273N;ENSP00000413377:D273N;ENSP00000409117:D273N;ENSP00000386945:D262N;ENSP00000386258:D208N	ENSP00000340776:D273N	D	-	1	0	CCDC108	219604270	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.869000	0.56062	2.517000	0.84864	0.650000	0.86243	GAC		0.667	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	Missense_Mutation	T	219896026	C	T	219896026	5	4	321	1	0	0	0	0	0	0	1	0	2743	869	30	2	5072	2	CCDC108	2	219896026	Splice_Site	SNP	C	TCGA-29-1688-01A-01W-0633-09	10859234	219896026	23303347	9	17029											
COL6A3	1293	genome.wustl.edu	37	2	238275911	238275911	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr2:238275911A>G	ENST00000295550.4	-	11	5371	c.4919T>C	c.(4918-4920)aTt>aCt	p.I1640T	COL6A3_ENST00000346358.4_Missense_Mutation_p.I1440T|COL6A3_ENST00000472056.1_Missense_Mutation_p.I1033T|COL6A3_ENST00000353578.4_Missense_Mutation_p.I1434T|COL6A3_ENST00000347401.3_Missense_Mutation_p.I1439T|COL6A3_ENST00000409809.1_Missense_Mutation_p.I1434T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1640	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGAACACAATGTCTGCTTT	0.378																																																0			2											63	56	58					2																	238275911		2203	4300	6503	237940650	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4919T>C	2.37:g.238275911A>G	ENSP00000295550:p.Ile1640Thr		237940650	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.953948	0.53293	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.109263	0.40064	N	0.001196	D	0.94631	0.8269	M	0.85373	2.75	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.982;0.978	D;D;P	0.69654	0.965;0.918;0.686	D	0.95409	0.8496	10	0.87932	D	0	.	15.5966	0.76587	1.0:0.0:0.0:0.0	.	1033;1434;1640	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	1640;1439;1434;1033;1434;1440	ENSP00000295550:I1640T;ENSP00000315609:I1439T;ENSP00000315873:I1434T;ENSP00000418285:I1033T;ENSP00000386844:I1434T;ENSP00000295546:I1440T	ENSP00000295550:I1640T	I	-	2	0	COL6A3	237940650	1.000000	0.71417	0.973000	0.42090	0.944000	0.59088	9.262000	0.95591	2.080000	0.62538	0.533000	0.62120	ATT		0.378	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		G	238275911	A	G	238275911	3	3	321	1	0	0	0	0	1	0	0	0	3701	101	4	4	4750	4	COL6A3	2	238275911	Missense_Mutation	SNP	A	TCGA-29-1688-01A-01W-0633-09	18379885	238275911	4923462	10	17030											
P4HTM	54681	genome.wustl.edu	37	3	49042397	49042397	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr3:49042397A>G	ENST00000383729.4	+	6	1362	c.991A>G	c.(991-993)Agt>Ggt	p.S331G	WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000415265.2_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.S331G	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	331	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CCACGTGGACAGTGGGCCTGT	0.612																																																0			3											127	99	109					3																	49042397		2203	4300	6503	49017401	SO:0001583	missense	54681				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.991A>G	3.37:g.49042397A>G	ENSP00000373235:p.Ser331Gly		49017401	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474900	0.84640	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.59224	0.28	5.29	5.29	0.74685	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.084818	0.85682	D	0.000000	T	0.56247	0.1972	L	0.31065	0.9	0.49483	D	0.999792	B;P	0.38745	0.136;0.645	B;P	0.46975	0.143;0.533	T	0.59451	-0.7452	10	0.52906	T	0.07	-10.3247	15.3015	0.73955	1.0:0.0:0.0:0.0	.	331;331	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	G	331	ENSP00000373235:S331G	ENSP00000341422:S331G	S	+	1	0	P4HTM	49017401	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.852000	0.92215	2.017000	0.59298	0.529000	0.55759	AGT		0.612	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		G	49042397	A	G	49042397	3	3	321	1	0	0	0	0	1	0	0	0	11360	188	7	4	1013	4	P4HTM	3	49042397	Missense_Mutation	SNP	A	TCGA-29-1688-01A-01W-0633-09		49042397	148980033	11	17031											
ABCC5	10057	genome.wustl.edu	37	3	183665282	183665282	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr3:183665282C>G	ENST00000334444.6	-	23	3484	c.3244G>C	c.(3244-3246)Gat>Cat	p.D1082H	ABCC5_ENST00000265586.6_Missense_Mutation_p.D1039H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1082	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGTTGTCATCCAGCAGCTCC	0.522																																																0			3											42	51	48					3																	183665282		1968	4160	6128	185147976	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3244G>C	3.37:g.183665282C>G	ENSP00000333926:p.Asp1082His		185147976	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472908	0.84640	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.95171	-2.7;-3.63	5.53	5.53	0.82687	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99525	1.0959	10	0.87932	D	0	-20.1302	19.4656	0.94935	0.0:1.0:0.0:0.0	.	1039;1082	Q86UX3;O15440	.;MRP5_HUMAN	H	1082;1039	ENSP00000333926:D1082H;ENSP00000265586:D1039H	ENSP00000265586:D1039H	D	-	1	0	ABCC5	185147976	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.802000	0.85969	2.607000	0.88179	0.655000	0.94253	GAT		0.522	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		G	183665282	C	G	183665282	3	3	321	1	0	0	0	0	1	0	0	0	56	855	30	3	1101	3	ABCC5	3	183665282	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	134622885	183665282	14357148	12	17032											
SPATA18	132671	genome.wustl.edu	37	4	52938174	52938174	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr4:52938174G>C	ENST00000295213.4	+	6	984	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.E172Q|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	204					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTGGAGCTTGGAGGAGCGGAA	0.522																																																0			4											83	75	78					4																	52938174		2203	4300	6503	52632931	SO:0001583	missense	132671			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.610G>C	4.37:g.52938174G>C	ENSP00000295213:p.Glu204Gln		52632931	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887899	0.52014	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.58210	0.35;1.6	4.17	4.17	0.49024	.	1.932380	0.02219	N	0.063844	T	0.59689	0.2212	L	0.44542	1.39	0.09310	N	1	D;D;P	0.57899	0.966;0.981;0.844	P;P;P	0.50570	0.644;0.644;0.447	T	0.53697	-0.8402	10	0.51188	T	0.08	-3.7791	12.2745	0.54726	0.0:0.0:1.0:0.0	.	172;204;204	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	Q	204;172	ENSP00000295213:E204Q;ENSP00000415309:E172Q	ENSP00000295213:E204Q	E	+	1	0	SPATA18	52632931	.	.	0.175000	0.22980	0.019000	0.09904	.	.	2.600000	0.87896	0.585000	0.79938	GAG		0.522	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		C	52938174	G	C	52938174	3	2	321	1	0	0	0	0	1	0	0	0	15005	1175	41	3	632	3	SPATA18	4	52938174	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09		52938174	138216102	13	17033											
TCERG1	10915	genome.wustl.edu	37	5	145849168	145849168	+	Silent	SNP	A	A	G			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr5:145849168A>G	ENST00000296702.5	+	7	1298	c.1260A>G	c.(1258-1260)gcA>gcG	p.A420A	TCERG1_ENST00000394421.2_Silent_p.A399A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	420					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCTATTGCAGCTTCACCTG	0.378																																																0			5											173	189	183					5																	145849168		2203	4298	6501	145829361	SO:0001819	synonymous_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1260A>G	5.37:g.145849168A>G			145829361	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.378	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		G	145849168	A	G	145849168	2	3	321	1	0	0	0	0	0	0	0	1	15685	175	7	4		4	TCERG1	5	145849168	Silent	SNP	A	TCGA-29-1688-01A-01W-0633-09		145849168	35066092	14	17034											
CD109	135228	genome.wustl.edu	37	6	74407296	74407297	+	Splice_Site	INS	-	-	T	rs144858532		TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr6:74407296_74407297insT	ENST00000287097.5	+	2	359		c.e2+1		CD109_ENST00000437994.2_Splice_Site|RP11-553A21.3_ENST00000428865.2_RNA|CD109_ENST00000422508.2_Splice_Site			Q6YHK3	CD109_HUMAN	CD109 molecule						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTGAAAAAGGTAAGATAAACA	0.431																																																0			6																																								74464018	SO:0001630	splice_region_variant	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.247+1->T	6.37:g.74407297_74407297dupT			74464017	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Splice_Site	INS	ENST00000287097.5	37	CCDS4982.1																																																																																				0.431	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	Intron	T	74407297	-	T	74407296	8	5	321	1	0	1	1	0	0	0	1	0	2963	1275	44	0	254	0	CD109	6	74407296	Splice_Site	INS	-	TCGA-29-1688-01A-01W-0633-09		74407296	96707771	15	17035											
ZMIZ2	83637	genome.wustl.edu	37	7	44804967	44804967	+	Silent	SNP	G	G	A			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr7:44804967G>A	ENST00000309315.4	+	16	2154	c.2031G>A	c.(2029-2031)acG>acA	p.T677T	ZMIZ2_ENST00000433667.1_Silent_p.T645T|ZMIZ2_ENST00000413916.1_Silent_p.T619T|ZMIZ2_ENST00000265346.7_Silent_p.T651T|ZMIZ2_ENST00000441627.1_Silent_p.T677T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	677					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCGACCCCACGTGCAGCTGGA	0.662																																					NSCLC(20;604 852 1948 16908 50522)											0			7											43	47	46					7																	44804967		2145	4244	6389	44771492	SO:0001819	synonymous_variant	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2031G>A	7.37:g.44804967G>A			44771492	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	CCDS43576.1																																																																																				0.662	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		A	44804967	G	A	44804967	2	1	321	1	0	0	0	0	0	0	0	1	17697	1132	40	1		1	ZMIZ2	7	44804967	Silent	SNP	G	TCGA-29-1688-01A-01W-0633-09		44804967	114333696	16	17036											
HIP1	3092	genome.wustl.edu	37	7	75189132	75189132	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr7:75189132C>T	ENST00000336926.6	-	14	1305	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T	HIP1_ENST00000434438.2_Missense_Mutation_p.A427T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	427	pDED.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGTCGTCGGCCGCCTGCTGC	0.642			T	PDGFRB	CMML																																		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0			7											23	25	24					7																	75189132		2202	4298	6500	75027068	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1279G>A	7.37:g.75189132C>T	ENSP00000336747:p.Ala427Thr		75027068	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560325	0.27827	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14144	2.75;2.53	5.62	4.73	0.59995	.	0.819184	0.11733	N	0.534763	T	0.12050	0.0293	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.35748	-0.9776	10	0.14252	T	0.57	-4.201	9.266	0.37641	0.0:0.7595:0.1576:0.0829	.	427;427	E7ES17;O00291	.;HIP1_HUMAN	T	427	ENSP00000336747:A427T;ENSP00000410300:A427T	ENSP00000336747:A427T	A	-	1	0	HIP1	75027068	0.000000	0.05858	0.003000	0.11579	0.861000	0.49209	0.575000	0.23729	1.361000	0.45981	0.655000	0.94253	GCC		0.642	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		T	75189132	C	T	75189132	3	4	321	1	0	0	0	0	1	0	0	0	7114	739	26	2	1906	2	HIP1	7	75189132	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	30384165	75189132	83949531	17	17037											
RNF32	140545	genome.wustl.edu	37	7	156447365	156447365	+	Missense_Mutation	SNP	G	G	A	rs576205900		TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr7:156447365G>A	ENST00000405335.1	+	5	779	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	RNF32_ENST00000311822.8_Missense_Mutation_p.V124M|RNF32_ENST00000392741.2_Missense_Mutation_p.V124M|RNF32_ENST00000317955.5_Missense_Mutation_p.V124M|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000432459.2_Missense_Mutation_p.V124M|RNF32_ENST00000392743.2_Missense_Mutation_p.V124M|RNF32_ENST00000343665.4_Missense_Mutation_p.V124M|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	124						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGGGGACTCCGTGCAACCATG	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		19074	0		0	False		,,,				2504	0															0			7											119	98	105					7																	156447365		2203	4300	6503	156140126	SO:0001583	missense	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.370G>A	7.37:g.156447365G>A	ENSP00000385285:p.Val124Met		156140126	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	1.202	-0.632229	0.03584	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	D;D;D;D;D;D;D;T	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;1.99	5.34	-1.57	0.08506	.	0.921976	0.09543	N	0.787990	T	0.69433	0.3110	N	0.00972	-1.085	0.09310	N	1	B;B;B;B	0.27380	0.024;0.177;0.09;0.063	B;B;B;B	0.15052	0.006;0.012;0.008;0.005	T	0.63646	-0.6590	10	0.22109	T	0.4	-0.4096	1.7924	0.03054	0.301:0.2551:0.3196:0.1242	.	124;124;124;124	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	M	124	ENSP00000385815:V124M;ENSP00000405588:V124M;ENSP00000315950:V124M;ENSP00000385285:V124M;ENSP00000308894:V124M;ENSP00000376499:V124M;ENSP00000376497:V124M;ENSP00000341185:V124M	ENSP00000308894:V124M	V	+	1	0	RNF32	156140126	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.512000	0.06313	-0.551000	0.06175	-0.302000	0.09304	GTG		0.537	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		A	156447365	G	A	156447365	3	1	321	1	0	0	0	0	1	0	0	0	13491	1145	40	1	380	1	RNF32	7	156447365	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09	81258233	156447365	2691298	18	17038											
LMBR1	64327	genome.wustl.edu	37	7	156518149	156518149	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr7:156518149C>T	ENST00000353442.5	-	14	1374	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	LMBR1_ENST00000359422.4_Missense_Mutation_p.D228N|LMBR1_ENST00000354505.4_Missense_Mutation_p.D421N|LMBR1_ENST00000540390.1_Missense_Mutation_p.D359N	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	380					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTTGTGTCATCTTTCTTGGGA	0.403																																																0			7											144	148	147					7																	156518149		2203	4300	6503	156210910	SO:0001583	missense	64327			AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.1138G>A	7.37:g.156518149C>T	ENSP00000326604:p.Asp380Asn		156210910	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740672	0.69304	.	.	ENSG00000105983	ENST00000353442;ENST00000316198;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.26	5.26	0.73747	LMBR1-like membrane protein (1);	0.100772	0.64402	D	0.000002	T	0.29491	0.0735	N	0.11427	0.14	0.80722	D	1	P;B;P	0.47484	0.896;0.012;0.896	P;B;P	0.53224	0.721;0.027;0.721	T	0.07790	-1.0754	10	0.27785	T	0.31	-17.7176	17.416	0.87500	0.0:1.0:0.0:0.0	.	359;421;380	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	N	380;22;228;419;421;359	ENSP00000326604:D380N;ENSP00000352392:D228N;ENSP00000408256:D419N;ENSP00000346500:D421N;ENSP00000445509:D359N	ENSP00000326700:D22N	D	-	1	0	LMBR1	156210910	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.971000	0.76105	2.613000	0.88420	0.591000	0.81541	GAT		0.403	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		T	156518149	C	T	156518149	3	4	321	1	0	0	0	0	1	0	0	0	8840	913	32	2	350	2	LMBR1	7	156518149	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	70784	156518149	2620514	19	17039											
VCP	7415	genome.wustl.edu	37	9	35067954	35067954	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr9:35067954T>A	ENST00000358901.6	-	3	1131	c.236A>T	c.(235-237)gAt>gTt	p.D79V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	79					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AATCTTCTCATCAGAACAAGT	0.463																																																0			9											154	131	139					9																	35067954		2203	4300	6503	35057954	SO:0001583	missense	7415			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.236A>T	9.37:g.35067954T>A	ENSP00000351777:p.Asp79Val		35057954	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157026	0.57259	.	.	ENSG00000165280	ENST00000358901;ENST00000448530;ENST00000417448	D;D;D	0.82893	-1.66;-1.66;-1.66	5.73	5.73	0.89815	ATPase, AAA-type, VAT, N-terminal (1);Aspartate decarboxylase-like fold (2);	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	M	0.83012	2.62	0.80722	D	1	B	0.23806	0.091	B	0.21917	0.037	T	0.82358	-0.0497	10	0.45353	T	0.12	-37.9873	16.0173	0.80450	0.0:0.0:0.0:1.0	.	79	P55072	TERA_HUMAN	V	79;34;34	ENSP00000351777:D79V;ENSP00000392088:D34V;ENSP00000399456:D34V	ENSP00000351777:D79V	D	-	2	0	VCP	35057954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.922000	0.87538	2.181000	0.69327	0.533000	0.62120	GAT		0.463	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		A	35067954	T	A	35067954	3	1	321	1	0	0	0	0	1	0	0	0	17140	1435	50	5	2244	5	VCP	9	35067954	Missense_Mutation	SNP	T	TCGA-29-1688-01A-01W-0633-09		35067954	106145477	20	17040											
IKBKAP	8518	genome.wustl.edu	37	9	111640961	111640961	+	Silent	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr9:111640961C>T	ENST00000374647.5	-	34	3949	c.3642G>A	c.(3640-3642)gaG>gaA	p.E1214E	IKBKAP_ENST00000537196.1_Silent_p.E865E|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1214					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGCCAGGTCCTCCAGCGGAC	0.478																																																0			9											240	237	238					9																	111640961		2203	4300	6503	110680782	SO:0001819	synonymous_variant	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3642G>A	9.37:g.111640961C>T			110680782	Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	CCDS6773.1																																																																																				0.478	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			T	111640961	C	T	111640961	2	4	321	1	0	0	0	0	0	0	0	1	7610	680	24	2		2	IKBKAP	9	111640961	Silent	SNP	C	TCGA-29-1688-01A-01W-0633-09	76573007	111640961	29572470	21	17041											
LOXL4	84171	genome.wustl.edu	37	10	100017747	100017747	+	Silent	SNP	G	G	A			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr10:100017747G>A	ENST00000260702.3	-	7	1246	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	366	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCTTGGCCCAGCCGGGCCCCA	0.627																																																0			10											65	71	69					10																	100017747		2203	4300	6503	100007737	SO:0001819	synonymous_variant	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1096C>T	10.37:g.100017747G>A			100007737	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	CCDS7473.1																																																																																				0.627	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		A	100017747	G	A	100017747	2	1	321	1	0	0	0	0	0	0	0	1	8902	962	34	2		2	LOXL4	10	100017747	Silent	SNP	G	TCGA-29-1688-01A-01W-0633-09		100017747	35517000	22	17042											
ADAM12	8038	genome.wustl.edu	37	10	127738188	127738188	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr10:127738188C>G	ENST00000368679.4	-	15	1978	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H	ADAM12_ENST00000368676.4_Missense_Mutation_p.D557H|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	557	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCATAAGGATCACCTGCAGAA	0.463																																																0			10											118	119	118					10																	127738188		2203	4300	6503	127728178	SO:0001583	missense	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1669G>C	10.37:g.127738188C>G	ENSP00000357668:p.Asp557His		127728178	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684310	0.88639	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.25579	1.79;1.79	4.9	4.9	0.64082	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.989;0.982;0.982;0.982;0.995	T	0.70999	-0.4719	10	0.87932	D	0	.	18.6296	0.91355	0.0:1.0:0.0:0.0	.	554;554;557;554;557	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	H	557	ENSP00000357668:D557H;ENSP00000357665:D557H	ENSP00000357665:D557H	D	-	1	0	ADAM12	127728178	1.000000	0.71417	0.892000	0.35008	0.841000	0.47740	7.416000	0.80143	2.699000	0.92147	0.655000	0.94253	GAT		0.463	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			G	127738188	C	G	127738188	3	3	321	1	0	0	0	0	1	0	0	0	236	826	29	3	1204	3	ADAM12	10	127738188	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	27720441	127738188	7796559	23	17043											
KRTAP5-5	439915	genome.wustl.edu	37	11	1651411	1651411	+	Missense_Mutation	SNP	G	G	T	rs80015637	byFrequency	TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr11:1651411G>T	ENST00000399676.2	+	1	379	c.341G>T	c.(340-342)gGg>gTg	p.G114V		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	114	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCTGTGGGGGGTCCAAGGGG	0.701																																																0			11																																								1607987	SO:0001583	missense	439915			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.341G>T	11.37:g.1651411G>T	ENSP00000382584:p.Gly114Val		1607987	A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	G	2.185	-0.386757	0.04966	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01414	4.92	3.47	3.47	0.39725	.	.	.	.	.	T	0.06600	0.0169	M	0.85859	2.78	0.43745	D	0.996244	D	0.65815	0.995	P	0.57776	0.827	T	0.04053	-1.0981	9	0.59425	D	0.04	.	10.523	0.44931	0.0:0.0:1.0:0.0	.	114	Q701N2	KRA55_HUMAN	V	114;85	ENSP00000382584:G114V	ENSP00000382584:G114V	G	+	2	0	KRTAP5-5	1607987	0.833000	0.29383	0.967000	0.41034	0.024000	0.10985	0.668000	0.25127	1.506000	0.48736	0.418000	0.28097	GGG		0.701	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			T	1651411	G	T	1651411	3	4	321	1	0	0	0	0	1	0	0	0	8564	1232	43	3	343	3	KRTAP5-5	11	1651411	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09		1651411	133355105	24	17044											
PTPN5	84867	genome.wustl.edu	37	11	18764903	18764903	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr11:18764903G>C	ENST00000358540.2	-	5	795	c.365C>G	c.(364-366)tCt>tGt	p.S122C	PTPN5_ENST00000396167.2_Intron|PTPN5_ENST00000396171.4_Missense_Mutation_p.S122C|PTPN5_ENST00000396168.1_Missense_Mutation_p.S98C|PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000496201.2_5'UTR|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_5'UTR	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	122					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CGTCAGCAAAGAGGAGACGAG	0.592																																																0			11											142	137	139					11																	18764903		2199	4293	6492	18721479	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.365C>G	11.37:g.18764903G>C	ENSP00000351342:p.Ser122Cys		18721479	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	G	8.198	0.797596	0.16327	.	.	ENSG00000110786	ENST00000358540;ENST00000396171;ENST00000396168	T;T;T	0.04049	3.72;3.72;3.73	3.78	3.78	0.43462	.	0.271849	0.26654	N	0.023185	T	0.03434	0.0099	N	0.19112	0.55	0.58432	D	0.999997	P	0.40000	0.698	B	0.34038	0.174	T	0.52563	-0.8559	10	0.66056	D	0.02	.	11.3268	0.49452	0.0:0.0:1.0:0.0	.	122	P54829	PTN5_HUMAN	C	122;122;98	ENSP00000351342:S122C;ENSP00000379474:S122C;ENSP00000379471:S98C	ENSP00000351342:S122C	S	-	2	0	PTPN5	18721479	0.999000	0.42202	0.096000	0.21009	0.057000	0.15508	3.945000	0.56637	2.113000	0.64589	0.561000	0.74099	TCT		0.592	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		C	18764903	G	C	18764903	3	2	321	1	0	0	0	0	1	0	0	0	12794	942	33	3	1376	3	PTPN5	11	18764903	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09	17113492	18764903	116241613	25	17045											
HSP90B1	7184	genome.wustl.edu	37	12	104335447	104335447	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr12:104335447A>T	ENST00000299767.5	+	10	1453	c.1271A>T	c.(1270-1272)gAt>gTt	p.D424V		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	424					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GACTTCCATGATATGATGCCT	0.408																																																0			12											133	125	128					12																	104335447		2203	4300	6503	102859577	SO:0001583	missense	7184			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1271A>T	12.37:g.104335447A>T	ENSP00000299767:p.Asp424Val		102859577	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756044	0.89843	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.13196	2.61	5.34	5.34	0.76211	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67051	-0.5768	10	0.87932	D	0	.	15.318	0.74095	1.0:0.0:0.0:0.0	.	424	P14625	ENPL_HUMAN	V	424;174	ENSP00000299767:D424V	ENSP00000299767:D424V	D	+	2	0	HSP90B1	102859577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.997000	0.58415	0.533000	0.62120	GAT		0.408	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		T	104335447	A	T	104335447	3	4	321	1	0	0	0	0	1	0	0	0	7403	333	12	5	1309	5	HSP90B1	12	104335447	Missense_Mutation	SNP	A	TCGA-29-1688-01A-01W-0633-09		104335447	29516448	26	17046											
SPG11	80208	genome.wustl.edu	37	15	44951447	44951447	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr15:44951447A>C	ENST00000261866.7	-	3	513	c.497T>G	c.(496-498)cTg>cGg	p.L166R	SPG11_ENST00000535302.2_Missense_Mutation_p.L166R|SPG11_ENST00000558319.1_Missense_Mutation_p.L166R|SPG11_ENST00000559193.1_Missense_Mutation_p.L166R|SPG11_ENST00000427534.2_Missense_Mutation_p.L166R	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	166					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTTGATGAACAGTAATGATGT	0.343																																																0			15											97	96	96					15																	44951447		2198	4298	6496	42738739	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.497T>G	15.37:g.44951447A>C	ENSP00000261866:p.Leu166Arg		42738739	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056158	0.76074	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;T;T	0.81908	-1.55;-1.3;-1.29	5.99	5.99	0.97316	.	0.189925	0.34531	N	0.003894	D	0.89891	0.6846	M	0.68952	2.095	0.38077	D	0.936567	D;D;D;D	0.89917	0.973;0.997;0.996;1.0	P;D;D;D	0.78314	0.851;0.959;0.943;0.991	D	0.91885	0.5519	10	0.87932	D	0	.	14.7717	0.69684	1.0:0.0:0.0:0.0	.	166;166;166;166	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	R	166	ENSP00000261866:L166R;ENSP00000445278:L166R;ENSP00000396110:L166R	ENSP00000261866:L166R	L	-	2	0	SPG11	42738739	0.966000	0.33281	0.989000	0.46669	0.941000	0.58515	5.626000	0.67777	2.304000	0.77564	0.529000	0.55759	CTG		0.343	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			C	44951447	A	C	44951447	3	2	321	1	0	0	0	0	1	0	0	0	15043	188	7	5	6986	5	SPG11	15	44951447	Missense_Mutation	SNP	A	TCGA-29-1688-01A-01W-0633-09		44951447	57579945	27	17047											
HDC	3067	genome.wustl.edu	37	15	50540483	50540483	+	Missense_Mutation	SNP	G	G	A	rs143418383		TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr15:50540483G>A	ENST00000267845.3	-	10	1501	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CCGAAGGACCGAATCACGAAC	0.522																																					GBM(95;1627 1936 6910 9570)											0			15						G	TRP/ARG	0,4392		0,0,2196	95	84	88		1099	5.5	1	15	dbSNP_134	88	1,8589	1.2+/-3.3	0,1,4294	no	missense	HDC	NM_002112.3	101	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	367/663	50540483	1,12981	2196	4295	6491	48327775	SO:0001583	missense	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1099C>T	15.37:g.50540483G>A	ENSP00000267845:p.Arg367Trp		48327775		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975961	0.92982	0.0	1.16E-4	ENSG00000140287	ENST00000267845	T	0.59224	0.28	5.47	5.47	0.80525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.112472	0.64402	D	0.000012	D	0.84023	0.5381	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89121	0.3503	10	0.87932	D	0	-20.3057	14.2738	0.66167	0.0:0.0:0.8512:0.1488	.	367	P19113	DCHS_HUMAN	W	367	ENSP00000267845:R367W	ENSP00000267845:R367W	R	-	1	2	HDC	48327775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.526000	0.81920	2.579000	0.87056	0.650000	0.86243	CGG		0.522	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			A	50540483	G	A	50540483	3	1	321	1	0	0	0	0	1	0	0	0	7015	1057	37	1	901	1	HDC	15	50540483	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09	5589036	50540483	51990909	28	17048											
ZNF609	23060	genome.wustl.edu	37	15	64792020	64792020	+	Silent	SNP	G	G	A			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr15:64792020G>A	ENST00000326648.3	+	1	530	c.402G>A	c.(400-402)ctG>ctA	p.L134L	ZNF609_ENST00000416172.1_Silent_p.L134L	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	134						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGAGGCCTGGTTGCTGCTA	0.572																																																0			15											47	50	49					15																	64792020		2203	4300	6503	62579073	SO:0001819	synonymous_variant	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.402G>A	15.37:g.64792020G>A			62579073	Q0D2I2	Silent	SNP	ENST00000326648.3	37	CCDS32270.1																																																																																				0.572	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		A	64792020	G	A	64792020	2	1	321	1	0	0	0	0	0	0	0	1	18035	1335	47	2		2	ZNF609	15	64792020	Silent	SNP	G	TCGA-29-1688-01A-01W-0633-09	14251537	64792020	37739372	29	17049											
UACA	55075	genome.wustl.edu	37	15	70972006	70972006	+	Missense_Mutation	SNP	T	T	C	rs373823406		TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr15:70972006T>C	ENST00000322954.6	-	10	1017	c.832A>G	c.(832-834)Aca>Gca	p.T278A	UACA_ENST00000379983.2_Missense_Mutation_p.T265A|UACA_ENST00000559183.1_5'Flank|UACA_ENST00000539319.1_Missense_Mutation_p.T169A|UACA_ENST00000560441.1_Missense_Mutation_p.T265A	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	278					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGCATGTGTGTCAAATTTCGC	0.333																																																0			15						T	ALA/THR,ALA/THR	1,4397	2.1+/-5.4	0,1,2198	117	104	108		793,832	-11.3	0	15		108	0,8594		0,0,4297	no	missense,missense	UACA	NM_001008224.1,NM_018003.2	58,58	0,1,6495	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	265/1404,278/1417	70972006	1,12991	2199	4297	6496	68759060	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.832A>G	15.37:g.70972006T>C	ENSP00000314556:p.Thr278Ala		68759060	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	2.703	-0.270634	0.05716	2.27E-4	0.0	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.76968	1.39;1.4;-1.06	5.64	-11.3	0.00108	.	0.932149	0.09044	N	0.856852	T	0.43100	0.1232	N	0.08118	0	0.39422	D	0.966935	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.11060	-1.0603	10	0.15499	T	0.54	-0.3331	2.1425	0.03778	0.2677:0.2607:0.3443:0.1273	.	169;278;278;265	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	A	278;265;265;169	ENSP00000314556:T278A;ENSP00000369319:T265A;ENSP00000438667:T169A	ENSP00000314556:T278A	T	-	1	0	UACA	68759060	0.003000	0.15002	0.008000	0.14137	0.852000	0.48524	-1.164000	0.03135	-2.001000	0.00964	-1.540000	0.00911	ACA		0.333	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			C	70972006	T	C	70972006	3	2	321	1	0	0	0	0	1	0	0	0	16824	1667	58	4	3458	4	UACA	15	70972006	Missense_Mutation	SNP	T	TCGA-29-1688-01A-01W-0633-09	6179986	70972006	31559386	30	17050											
C16orf87	388272	genome.wustl.edu	37	16	46858348	46858348	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr16:46858348C>G	ENST00000285697.4	-	2	374	c.113G>C	c.(112-114)aGc>aCc	p.S38T	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Missense_Mutation_p.S38T	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	38										large_intestine(4)|urinary_tract(1)	5						AAGTTTTCTGCTAATAAATAT	0.274																																																0			16											80	81	80					16																	46858348		2202	4293	6495	45415849	SO:0001583	missense	388272				CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.113G>C	16.37:g.46858348C>G	ENSP00000285697:p.Ser38Thr		45415849	Q63HN9	Missense_Mutation	SNP	ENST00000285697.4	37	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877336	0.51801	.	.	ENSG00000155330	ENST00000285697;ENST00000394806	.	.	.	5.69	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	L	0.52573	1.65	0.54753	D	0.99998	P	0.47677	0.899	D	0.67231	0.95	T	0.74957	-0.3487	9	0.59425	D	0.04	.	13.87	0.63612	0.0:0.9252:0.0:0.0748	.	38	Q6PH81	CP087_HUMAN	T	38	.	ENSP00000285697:S38T	S	-	2	0	C16orf87	45415849	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.482000	0.73613	1.414000	0.47017	0.460000	0.39030	AGC		0.274	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		G	46858348	C	G	46858348	3	3	321	1	0	0	0	0	1	0	0	0	1840	797	28	3	363	3	C16orf87	16	46858348	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09		46858348	43496405	31	17051											
TP53	7157	genome.wustl.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr17:7577105G>A	ENST00000269305.4	-	8	1022	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000420246.2_Missense_Mutation_p.P278L|TP53_ENST00000445888.2_Missense_Mutation_p.P278L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278L	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTCTCTCCCAGGACAGGCACA	0.552		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"	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	17	GRCh37	CM961376	TP53	M							72	63	66					17																	7577105		2203	4300	6503	7517830	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.833C>T	17.37:g.7577105G>A	ENSP00000269305:p.Pro278Leu		7517830	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	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814432	0.90790	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	N	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	278;278;278;278;278;267;146	ENSP00000352610:P278L;ENSP00000269305:P278L;ENSP00000398846:P278L;ENSP00000391127:P278L;ENSP00000391478:P278L;ENSP00000425104:P146L	ENSP00000269305:P278L	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577105	G	A	7577105	3	1	321	1	0	0	0	0	1	0	0	0	16381	1000	35	2	453	2	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09		7577105	73618105	32	17052											
NOL11	25926	genome.wustl.edu	37	17	65734086	65734086	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr17:65734086G>T	ENST00000253247.4	+	13	1642	c.1527G>T	c.(1525-1527)ttG>ttT	p.L509F	SNORA38B_ENST00000363524.1_RNA|NOL11_ENST00000535137.1_Missense_Mutation_p.L327F	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	509					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAATTTTCTTGAGGTAAGTTA	0.328																																																0			17											88	92	90					17																	65734086		2203	4300	6503	63164548	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1527G>T	17.37:g.65734086G>T	ENSP00000253247:p.Leu509Phe		63164548	B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922921	0.33908	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.66099	-0.19	5.11	-2.95	0.05564	.	0.259871	0.34025	N	0.004327	T	0.62258	0.2413	M	0.75264	2.295	0.44579	D	0.997542	P	0.51933	0.949	P	0.46718	0.525	T	0.67304	-0.5704	10	0.72032	D	0.01	-4.0679	12.2458	0.54571	0.6286:0.0:0.3714:0.0	.	509	Q9H8H0	NOL11_HUMAN	F	509;327	ENSP00000253247:L509F	ENSP00000253247:L509F	L	+	3	2	NOL11	63164548	0.995000	0.38212	0.963000	0.40424	0.046000	0.14306	0.373000	0.20484	-0.669000	0.05289	-0.897000	0.02905	TTG		0.328	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		T	65734086	G	T	65734086	3	4	321	1	0	0	0	0	1	0	0	0	10521	1281	45	3	1577	3	NOL11	17	65734086	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09	58156981	65734086	15461124	33	17053											
MOCOS	55034	genome.wustl.edu	37	18	33785064	33785064	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr18:33785064A>G	ENST00000261326.5	+	6	1064	c.1043A>G	c.(1042-1044)cAc>cGc	p.H348R		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATAAAGCAGCACACCTTCACC	0.423																																																0			18											95	87	90					18																	33785064		2203	4300	6503	32039062	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1043A>G	18.37:g.33785064A>G	ENSP00000261326:p.His348Arg		32039062		Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017709	0.54576	.	.	ENSG00000075643	ENST00000261326	T	0.25579	1.79	5.89	5.89	0.94794	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.48986	1.54	0.50813	D	0.999898	P	0.45902	0.868	P	0.53518	0.728	T	0.04509	-1.0946	10	0.40728	T	0.16	-29.9737	14.2667	0.66123	1.0:0.0:0.0:0.0	.	348	Q96EN8	MOCOS_HUMAN	R	348	ENSP00000261326:H348R	ENSP00000261326:H348R	H	+	2	0	MOCOS	32039062	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	9.185000	0.94900	2.247000	0.74100	0.523000	0.50628	CAC		0.423	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			G	33785064	A	G	33785064	3	3	321	1	0	0	0	0	1	0	0	0	9689	159	6	4	1065	4	MOCOS	18	33785064	Missense_Mutation	SNP	A	TCGA-29-1688-01A-01W-0633-09		33785064	44292184	34	17054											
CCDC159	126075	genome.wustl.edu	37	19	11462734	11462734	+	Splice_Site	SNP	A	A	C			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr19:11462734A>C	ENST00000588790.1	+	9	939	c.492A>C	c.(490-492)caA>caC	p.Q164H	CCDC159_ENST00000458408.1_Splice_Site_p.Q164H			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	279										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CCTCCACAGAAGCGCAGGAGG	0.562																																																0			19											59	62	61					19																	11462734		1946	4125	6071	11323734	SO:0001630	splice_region_variant	126075			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.491-1A>C	19.37:g.11462734A>C			11323734	B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	37	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279880	0.40294	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.54866	0.55	4.94	-1.44	0.08856	.	.	.	.	.	T	0.60274	0.2256	L	0.59436	1.845	0.09310	N	0.999999	D;D;D	0.76494	0.999;0.994;0.994	D;P;P	0.70935	0.971;0.896;0.896	T	0.49844	-0.8896	9	0.49607	T	0.09	.	4.9876	0.14198	0.4452:0.1516:0.4033:0.0	.	279;279;164	P0C7I6;P0C7I6-4;P0C7I6-2	CC159_HUMAN;.;.	H	164;279	ENSP00000402239:Q164H	ENSP00000390400:Q279H	Q	+	3	2	CCDC159	11323734	0.258000	0.24033	0.243000	0.24186	0.028000	0.11728	0.105000	0.15333	0.147000	0.19030	-0.262000	0.10625	CAA		0.562	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503	Missense_Mutation	C	11462734	A	C	11462734	5	2	321	1	0	0	0	0	0	0	1	0	2791	86	3	5	518	5	CCDC159	19	11462734	Splice_Site	SNP	A	TCGA-29-1688-01A-01W-0633-09		11462734	47666249	35	17055											
ZFP36	7538	genome.wustl.edu	37	19	39898420	39898420	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr19:39898420C>A	ENST00000248673.3	+	2	120	c.62C>A	c.(61-63)tCc>tAc	p.S21Y	ZFP36_ENST00000597629.1_Missense_Mutation_p.S27Y|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000594045.1_3'UTR	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	21					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCGTGCCATCCGACCATGGA	0.687																																					NSCLC(67;1164 1324 12056 21056 30097)											0			19											89	99	96					19																	39898420		2202	4298	6500	44590260	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.62C>A	19.37:g.39898420C>A	ENSP00000248673:p.Ser21Tyr		44590260	B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37		.	.	.	.	.	.	.	.	.	.	C	8.905	0.957371	0.18507	.	.	ENSG00000128016	ENST00000248673	T	0.19105	2.17	3.88	2.84	0.33178	.	1.417720	0.05465	U	0.551912	T	0.15825	0.0381	N	0.19112	0.55	0.09310	N	1	P	0.37864	0.61	B	0.35550	0.205	T	0.30563	-0.9974	10	0.72032	D	0.01	-4.2541	9.0171	0.36177	0.0:0.8879:0.0:0.1121	.	21	P26651	TTP_HUMAN	Y	21	ENSP00000248673:S21Y	ENSP00000248673:S21Y	S	+	2	0	ZFP36	44590260	0.002000	0.14202	0.217000	0.23759	0.139000	0.21198	1.540000	0.36115	0.837000	0.34925	0.478000	0.44815	TCC		0.687	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				A	39898420	C	A	39898420	3	1	321	1	0	0	0	0	1	0	0	0	17645	855	30	3	68	3	ZFP36	19	39898420	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	28435686	39898420	19230563	36	17056											
SULF2	55959	genome.wustl.edu	37	20	46319008	46319008	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr20:46319008C>T	ENST00000359930.4	-	5	1450	c.599G>A	c.(598-600)aGc>aAc	p.S200N	SULF2_ENST00000484875.1_Missense_Mutation_p.S200N|SULF2_ENST00000467815.1_Missense_Mutation_p.S200N|SULF2_ENST00000361612.4_Missense_Mutation_p.S200N	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	200					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAAGCTCACGCTGTCATTGGT	0.587																																																0			20											128	102	111					20																	46319008		2203	4300	6503	45752415	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.599G>A	20.37:g.46319008C>T	ENSP00000353007:p.Ser200Asn		45752415	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087077	0.94100	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	4.53	4.53	0.55603	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.329365	0.38005	N	0.001859	D	0.99162	0.9710	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.985;0.993;0.999	P;P;D	0.85130	0.888;0.901;0.997	D	0.99445	1.0939	10	0.87932	D	0	-21.2317	17.4357	0.87552	0.0:1.0:0.0:0.0	.	200;200;200	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	N	200	ENSP00000353007:S200N;ENSP00000418290:S200N;ENSP00000354662:S200N;ENSP00000418442:S200N	ENSP00000353007:S200N	S	-	2	0	SULF2	45752415	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	7.648000	0.83479	2.341000	0.79615	0.543000	0.68304	AGC		0.587	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		T	46319008	C	T	46319008	3	4	321	1	0	0	0	0	1	0	0	0	15373	797	28	2	2081	2	SULF2	20	46319008	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09		46319008	16706512	37	17057											
GAB4	128954	genome.wustl.edu	37	22	17450977	17450977	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr22:17450977C>T	ENST00000400588.1	-	4	900	c.793G>A	c.(793-795)Ggt>Agt	p.G265S	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	265										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGATGTGACCGCTGACCCCA	0.557																																																0			22											88	99	96					22																	17450977		2195	4298	6493	15830977	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.793G>A	22.37:g.17450977C>T	ENSP00000383431:p.Gly265Ser		15830977		Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	6.444	0.449970	0.12223	.	.	ENSG00000215568	ENST00000400588	T	0.31510	1.49	1.97	0.86	0.19042	.	0.188749	0.46145	N	0.000304	T	0.17789	0.0427	L	0.42245	1.32	0.26359	N	0.977071	P	0.39181	0.663	B	0.28638	0.092	T	0.12066	-1.0562	10	0.39692	T	0.17	.	6.9692	0.24639	0.0:0.8386:0.0:0.1614	.	265	Q2WGN9	GAB4_HUMAN	S	265	ENSP00000383431:G265S	ENSP00000383431:G265S	G	-	1	0	GAB4	15830977	0.766000	0.28496	0.473000	0.27253	0.028000	0.11728	1.424000	0.34848	0.343000	0.23821	0.411000	0.27672	GGT		0.557	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		T	17450977	C	T	17450977	3	4	321	1	0	0	0	0	1	0	0	0	6151	652	23	1	959	1	GAB4	22	17450977	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09		17450977	33853589	38	17058											
TFIP11	24144	genome.wustl.edu	37	22	26892055	26892055	+	Silent	SNP	G	G	A			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr22:26892055G>A	ENST00000407690.1	-	12	2116	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	TFIP11_ENST00000405938.1_Silent_p.N611N|TFIP11_ENST00000407431.1_Silent_p.N611N|TFIP11_ENST00000407148.1_Silent_p.N611N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	611					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TGGGCACTATGTTTTTGACCA	0.527																																																0			22											219	225	223					22																	26892055		2203	4300	6503	25222055	SO:0001819	synonymous_variant	24144			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1833C>T	22.37:g.26892055G>A			25222055	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	CCDS13838.1																																																																																				0.527	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		A	26892055	G	A	26892055	2	1	321	1	0	0	0	0	0	0	0	1	15807	1368	48	2		2	TFIP11	22	26892055	Silent	SNP	G	TCGA-29-1688-01A-01W-0633-09	9441078	26892055	24412511	39	17059											
NIPSNAP1	8508	genome.wustl.edu	37	22	29954897	29954897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chr22:29954897C>T	ENST00000216121.7	-	9	1006	c.752G>A	c.(751-753)tGg>tAg	p.W251*		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	251					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)			large_intestine(2)|lung(2)|skin(1)	5						TCTCTTCCTCCAGGCAGCGTT	0.532																																																0			22											120	107	111					22																	29954897		2203	4300	6503	28284897	SO:0001587	stop_gained	8508			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.752G>A	22.37:g.29954897C>T	ENSP00000216121:p.Trp251*		28284897	B2RAY3|O43800	Nonsense_Mutation	SNP	ENST00000216121.7	37	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	C	37	6.547481	0.97654	.	.	ENSG00000184117	ENST00000216121	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0099	17.5802	0.87965	0.0:1.0:0.0:0.0	.	.	.	.	X	251	.	ENSP00000216121:W251X	W	-	2	0	NIPSNAP1	28284897	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.288000	0.78691	2.570000	0.86706	0.555000	0.69702	TGG		0.532	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			T	29954897	C	T	29954897	4	4	321	1	0	0	0	0	0	1	0	0	10429	595	21	2	110	2	NIPSNAP1	22	29954897	Nonsense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	3062842	29954897	21349669	40	17060											
SLC7A3	84889	genome.wustl.edu	37	X	70147771	70147771	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chrX:70147771G>T	ENST00000374299.3	-	6	1064	c.920C>A	c.(919-921)aCc>aAc	p.T307N	SLC7A3_ENST00000298085.4_Missense_Mutation_p.T307N			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	307					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CATCATCAGGGTGAGTGCAGA	0.532																																																0			X											136	107	117					X																	70147771		2203	4300	6503	70064496	SO:0001583	missense	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.920C>A	X.37:g.70147771G>T	ENSP00000363417:p.Thr307Asn		70064496	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779518	0.70107	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89810	-2.57;-2.57	5.15	4.29	0.51040	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96457	0.8844	H	0.98542	4.26	0.58432	D	0.999998	D	0.63880	0.993	D	0.79784	0.993	D	0.96845	0.9621	10	0.87932	D	0	.	11.9578	0.52991	0.0854:0.0:0.9146:0.0	.	307	Q8WY07	CTR3_HUMAN	N	307	ENSP00000363417:T307N;ENSP00000298085:T307N	ENSP00000298085:T307N	T	-	2	0	SLC7A3	70064496	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	7.639000	0.83342	1.167000	0.42706	0.468000	0.43344	ACC		0.532	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		T	70147771	G	T	70147771	3	4	321	1	0	0	0	0	1	0	0	0	14701	1261	44	3	967	3	SLC7A3	23	70147771	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09		70147771	85122789	41	17061											
IL1RAPL2	26280	genome.wustl.edu	37	X	104984676	104984676	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chrX:104984676G>A	ENST00000372582.1	+	8	1796	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R347H	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	347	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTTTGCTGCGTAAAAAGGGT	0.368																																																0			X											59	51	54					X																	104984676		2203	4300	6503	104871332	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1040G>A	X.37:g.104984676G>A	ENSP00000361663:p.Arg347His		104871332	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.718262	0.30503	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.77620	-1.11;-1.11	5.61	5.61	0.85477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.77025	0.4070	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	P	0.55161	0.77	T	0.74583	-0.3617	10	0.25106	T	0.35	.	17.5047	0.87741	0.0:0.0:1.0:0.0	.	347	Q9NP60	IRPL2_HUMAN	H	347	ENSP00000361663:R347H;ENSP00000344976:R347H	ENSP00000344976:R347H	R	+	2	0	IL1RAPL2	104871332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.989000	0.49393	2.348000	0.79779	0.600000	0.82982	CGT		0.368	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		A	104984676	G	A	104984676	3	1	321	1	0	0	0	0	1	0	0	0	7662	1145	40	1	1066	1	IL1RAPL2	23	104984676	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09	34836905	104984676	50285884	42	17062											
OCRL	4952	genome.wustl.edu	37	X	128724235	128724235	+	Silent	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chrX:128724235C>T	ENST00000371113.4	+	24	2859	c.2694C>T	c.(2692-2694)agC>agT	p.S898S	OCRL_ENST00000357121.5_Silent_p.S890S	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	898	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGCTTGGGAGCGAAGAAGACT	0.478																																																0			X											186	182	183					X																	128724235		2203	4300	6503	128551916	SO:0001819	synonymous_variant	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2694C>T	X.37:g.128724235C>T			128551916	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	CCDS35393.1																																																																																				0.478	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		T	128724235	C	T	128724235	2	4	321	1	0	0	0	0	0	0	0	1	10823	767	27	1		1	OCRL	23	128724235	Silent	SNP	C	TCGA-29-1688-01A-01W-0633-09	23739559	128724235	26546325	43	17063											
SLC9A6	10479	genome.wustl.edu	37	X	135106547	135106547	+	Silent	SNP	G	G	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chrX:135106547G>T	ENST00000370698.3	+	12	1460	c.1425G>T	c.(1423-1425)cgG>cgT	p.R475R	SLC9A6_ENST00000370701.1_Silent_p.R455R|SLC9A6_ENST00000370695.4_Silent_p.R507R	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	475					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTATGCACGGCAAATGATGT	0.463																																																0			X											295	201	233					X																	135106547		2203	4300	6503	134934213	SO:0001819	synonymous_variant	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1425G>T	X.37:g.135106547G>T			134934213	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	ENST00000370698.3	37	CCDS14654.1																																																																																				0.463	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		T	135106547	G	T	135106547	2	4	321	1	0	0	0	0	0	0	0	1	14721	1190	42	3		3	SLC9A6	23	135106547	Silent	SNP	G	TCGA-29-1688-01A-01W-0633-09	6382312	135106547	20164013	44	17064											
SLITRK4	139065	genome.wustl.edu	37	X	142718171	142718171	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chrX:142718171G>T	ENST00000381779.4	-	2	979	c.754C>A	c.(754-756)Ctt>Att	p.L252I	SLITRK4_ENST00000338017.4_Missense_Mutation_p.L252I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L252I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	252	LRRCT 1.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTTAAAAGCCTTCCATAT	0.443																																																0			X											69	62	65					X																	142718171		2203	4300	6503	142545837	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.754C>A	X.37:g.142718171G>T	ENSP00000371198:p.Leu252Ile		142545837	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187553	0.38609	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.41758	0.99;0.99;0.99	5.64	5.64	0.86602	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.45558	0.1348	L	0.37697	1.125	0.54753	D	0.999985	D	0.57257	0.979	P	0.55222	0.771	T	0.38045	-0.9679	10	0.48119	T	0.1	-9.947	10.7273	0.46077	0.0892:0.0:0.9108:0.0	.	252	Q8IW52	SLIK4_HUMAN	I	252	ENSP00000371198:L252I;ENSP00000349400:L252I;ENSP00000336627:L252I	ENSP00000336627:L252I	L	-	1	0	SLITRK4	142545837	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.670000	0.68088	2.358000	0.79984	0.600000	0.82982	CTT		0.443	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		T	142718171	G	T	142718171	3	4	321	1	0	0	0	0	1	0	0	0	14748	971	34	3	1763	3	SLITRK4	23	142718171	Missense_Mutation	SNP	G	TCGA-29-1688-01A-01W-0633-09	7611624	142718171	12552389	45	17065											
BCAP31	10134	genome.wustl.edu	37	X	152981133	152981133	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1688-01A-01W-0633-09	TCGA-29-1688-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	083e3d14-3756-4101-a93d-bc76f2c0d59c	e4318781-2a5f-412b-aaa5-74827d79a63d	g.chrX:152981133C>T	ENST00000345046.6	-	4	612	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.E69K|BCAP31_ENST00000458587.2_Missense_Mutation_p.E136K	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	69					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCCGAATTTCGCGCACGGCA	0.552																																																0			X											169	133	145					X																	152981133		2203	4300	6503	152634327	SO:0001583	missense	10134			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.205G>A	X.37:g.152981133C>T	ENSP00000343458:p.Glu69Lys		152634327	B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	ENST00000345046.6	37	CCDS14727.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971527	0.74246	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.84165	0.5412	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.94	D	0.84795	0.0781	9	0.34782	T	0.22	-27.19	16.8983	0.86106	0.0:1.0:0.0:0.0	.	69;136	P51572;B3KQ79	BAP31_HUMAN;.	K	69;69;136;136;69;69;69;69;69	.	ENSP00000343458:E69K	E	-	1	0	BCAP31	152634327	1.000000	0.71417	0.219000	0.23793	0.091000	0.18340	6.934000	0.75880	2.252000	0.74401	0.468000	0.43344	GAA		0.552	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		T	152981133	C	T	152981133	3	4	321	1	0	0	0	0	1	0	0	0	1347	893	31	1	555	1	BCAP31	23	152981133	Missense_Mutation	SNP	C	TCGA-29-1688-01A-01W-0633-09	10262962	152981133	2289427	46	17066											
NBPF1	55672	genome.wustl.edu	37	1	16902856	16902856	+	Silent	SNP	C	C	T	rs200172966		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:16902856C>T	ENST00000430580.2	-	19	2912	c.2025G>A	c.(2023-2025)ccG>ccA	p.P675P	NBPF1_ENST00000432949.1_Silent_p.P133P|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Silent_p.P40P	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	675						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGGCTCATCCGGAGTGAGGA	0.572																																																0			1						C		215,2807		0,215,1296	365	405	391		2025	-1.3	0	1	dbSNP_134	391	20,5398		0,20,2689	no	coding-synonymous	NBPF1	NM_017940.3		0,235,3985	TT,TC,CC		0.3691,7.1145,2.7844		675/1123	16902856	235,8205	1511	2709	4220	16775443	SO:0001819	synonymous_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2025G>A	1.37:g.16902856C>T			16775443	Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37																																																																																					0.572	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		T	16902856	C	T	16902856	2	4	322	1	0	0	0	0	0	0	0	1	10192	639	23	1		1	NBPF1	1	16902856	Silent	SNP	C	TCGA-29-1690-01A-01W-0633-09		16902856	232347765	1	17067											
CELA3A	10136	genome.wustl.edu	37	1	22336283	22336283	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:22336283G>T	ENST00000290122.3	+	7	747	c.728G>T	c.(727-729)gGc>gTc	p.G243V	RNU6-776P_ENST00000364403.1_RNA|RN7SL186P_ENST00000466485.2_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	243	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGCCTTTGGCTGCAACTTC	0.607																																																0			1											81	71	74					1																	22336283		2197	4300	6497	22208870	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.728G>T	1.37:g.22336283G>T	ENSP00000290122:p.Gly243Val		22208870	B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545416	0.45280	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	D;D	0.89810	-2.57;-2.57	3.65	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93067	0.7793	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93511	0.6853	9	0.66056	D	0.02	-46.6001	12.8948	0.58093	0.0:0.0:1.0:0.0	.	243	P09093	CEL3A_HUMAN	V	243;51	ENSP00000290122:G243V;ENSP00000383130:G51V	ENSP00000290122:G243V	G	+	2	0	CELA3A	22208870	1.000000	0.71417	0.979000	0.43373	0.021000	0.10359	7.374000	0.79633	1.856000	0.53863	0.455000	0.32223	GGC		0.607	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		T	22336283	G	T	22336283	3	4	322	1	0	0	0	0	1	0	0	0	3213	1203	42	3	754	3	CELA3A	1	22336283	Missense_Mutation	SNP	G	TCGA-29-1690-01A-01W-0633-09	5433427	22336283	226914338	2	17068											
C1orf172	126695	genome.wustl.edu	37	1	27277943	27277943	+	Missense_Mutation	SNP	C	C	T	rs150297466		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:27277943C>T	ENST00000320567.5	-	2	1017	c.929G>A	c.(928-930)cGt>cAt	p.R310H		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		310					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGCGAGCACGGCTCTTTCG	0.622																																																0			1						C	HIS/ARG	0,4406		0,0,2203	46	45	45		929	5.5	0.9	1	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf172	NM_152365.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	310/399	27277943	1,13005	2203	4300	6503	27150530	SO:0001583	missense	126695																														ENST00000320567.5:c.929G>A	1.37:g.27277943C>T	ENSP00000319179:p.Arg310His		27150530	Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	CCDS293.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853214	0.71719	0.0	1.16E-4	ENSG00000175707	ENST00000320567	T	0.36157	1.27	5.5	5.5	0.81552	.	0.141742	0.44285	D	0.000464	T	0.43700	0.1259	L	0.29908	0.895	0.48395	D	0.999644	D	0.69078	0.997	P	0.53861	0.736	T	0.39761	-0.9598	10	0.72032	D	0.01	.	19.397	0.94611	0.0:1.0:0.0:0.0	.	310	Q8NAX2	CA172_HUMAN	H	310	ENSP00000319179:R310H	ENSP00000319179:R310H	R	-	2	0	C1orf172	27150530	.	.	0.886000	0.34754	0.552000	0.35366	.	.	2.594000	0.87642	0.555000	0.69702	CGT		0.622	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			T	27277943	C	T	27277943	3	4	322	1	0	0	0	0	1	0	0	0	2013	536	19	1	279	1	C1orf172	1	27277943	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09	4941660	27277943	221972678	3	17069											
IPO13	9670	genome.wustl.edu	37	1	44426856	44426856	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:44426856C>T	ENST00000372343.3	+	14	2928	c.2266C>T	c.(2266-2268)Cat>Tat	p.H756Y		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	756					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CATCTTTGCTCATGAGCCTGC	0.567																																																0			1											314	275	288					1																	44426856		2203	4300	6503	44199443	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2266C>T	1.37:g.44426856C>T	ENSP00000361418:p.His756Tyr		44199443	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392795	0.11638	.	.	ENSG00000117408	ENST00000372343	T	0.66638	-0.22	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);	0.160315	0.56097	D	0.000031	T	0.53190	0.1781	N	0.22421	0.69	0.80722	D	1	B	0.30439	0.279	B	0.28232	0.087	T	0.56245	-0.8011	10	0.59425	D	0.04	-19.7584	14.1029	0.65068	0.1501:0.8499:0.0:0.0	.	756	O94829	IPO13_HUMAN	Y	756	ENSP00000361418:H756Y	ENSP00000361418:H756Y	H	+	1	0	IPO13	44199443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.220000	0.51207	2.775000	0.95449	0.655000	0.94253	CAT		0.567	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		T	44426856	C	T	44426856	3	4	322	1	0	0	0	0	1	0	0	0	7794	826	29	2	2320	2	IPO13	1	44426856	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09	17148913	44426856	204823765	4	17070											
ANKRD13C	81573	genome.wustl.edu	37	1	70742473	70742473	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:70742473C>T	ENST00000370944.4	-	10	1583	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.E389K	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	424					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GATATATATTCTTCCCATGTA	0.323																																																0			1											60	66	64					1																	70742473		2203	4299	6502	70515061	SO:0001583	missense	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1270G>A	1.37:g.70742473C>T	ENSP00000359982:p.Glu424Lys		70515061	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	34	5.325229	0.95708	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.47869	0.83;0.83	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	M	0.90650	3.135	0.80722	D	1	D;D	0.60160	0.984;0.987	D;D	0.64877	0.915;0.93	T	0.77146	-0.2695	10	0.87932	D	0	-10.9939	18.2515	0.90005	0.0:1.0:0.0:0.0	.	389;424	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	K	424;389	ENSP00000359982:E424K;ENSP00000262346:E389K	ENSP00000262346:E389K	E	-	1	0	ANKRD13C	70515061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.074000	0.76791	2.564000	0.86499	0.563000	0.77884	GAA		0.323	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		T	70742473	C	T	70742473	3	4	322	1	0	0	0	0	1	0	0	0	643	922	32	2	371	2	ANKRD13C	1	70742473	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09	26315617	70742473	178508148	5	17071											
HRNR	388697	genome.wustl.edu	37	1	152187276	152187276	+	Missense_Mutation	SNP	C	C	T	rs199952550	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:152187276C>T	ENST00000368801.2	-	3	6904	c.6829G>A	c.(6829-6831)Ggt>Agt	p.G2277S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2277					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGCTGACCGTGGCTGGAA	0.572																																																0			1											5	7	7					1																	152187276		1607	3791	5398	150453900	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6829G>A	1.37:g.152187276C>T	ENSP00000357791:p.Gly2277Ser		150453900	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.412	0.844499	0.16963	.	.	ENSG00000197915	ENST00000368801	T	0.16196	2.36	3.98	-0.207	0.13189	.	.	.	.	.	T	0.01765	0.0056	N	0.19112	0.55	0.09310	N	1	D	0.52996	0.957	B	0.34242	0.178	T	0.38672	-0.9650	9	0.09590	T	0.72	.	6.592	0.22651	0.0:0.5599:0.0:0.4401	.	2277	Q86YZ3	HORN_HUMAN	S	2277	ENSP00000357791:G2277S	ENSP00000357791:G2277S	G	-	1	0	HRNR	150453900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.276000	0.08514	-0.129000	0.11620	0.650000	0.86243	GGT		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152187276	C	T	152187276	3	4	322	1	0	0	0	0	1	0	0	0	7359	652	23	1	1727	1	HRNR	1	152187276	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09	81444803	152187276	97063345	6	17072											
FLG	2312	genome.wustl.edu	37	1	152278555	152278555	+	Missense_Mutation	SNP	T	T	C	rs80221306	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:152278555T>C	ENST00000368799.1	-	3	8842	c.8807A>G	c.(8806-8808)gAc>gGc	p.D2936G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2936	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGCTCTGTCTTCTTGATG	0.552									Ichthyosis																																							0			1						T	GLY/ASP	267,3373		3,261,1556	22	34	31		8807	1.3	0	1	dbSNP_131	31	809,7583		0,809,3387	no	missense	FLG	NM_002016.1	94	3,1070,4943	CC,CT,TT		9.6401,7.3352,8.9428	benign	2936/4062	152278555	1076,10956	1820	4196	6016	150545179	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8807A>G	1.37:g.152278555T>C	ENSP00000357789:p.Asp2936Gly		150545179	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	7.089	0.571862	0.13623	0.073352	0.096401	ENSG00000143631	ENST00000368799	T	0.01685	4.69	1.29	1.29	0.21616	.	.	.	.	.	T	0.00815	0.0027	M	0.70595	2.14	0.80722	P	0.0	B	0.17852	0.024	B	0.10450	0.005	T	0.39375	-0.9617	8	0.22706	T	0.39	.	4.7721	0.13160	0.0:0.0:0.0:1.0	.	2936	P20930	FILA_HUMAN	G	2936	ENSP00000357789:D2936G	ENSP00000357789:D2936G	D	-	2	0	FLG	150545179	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.386000	0.07370	0.851000	0.35264	0.248000	0.18094	GAC		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152278555	T	C	152278555	3	2	322	1	0	0	0	0	1	0	0	0	5922	1667	58	4	3382	4	FLG	1	152278555	Missense_Mutation	SNP	T	TCGA-29-1690-01A-01W-0633-09	91279	152278555	96972066	7	17073											
FLG	2312	genome.wustl.edu	37	1	152279019	152279019	+	Silent	SNP	G	G	A	rs57670307	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:152279019G>A	ENST00000368799.1	-	3	8378	c.8343C>T	c.(8341-8343)gaC>gaT	p.D2781D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2781	Ser-rich.		D -> Y (in dbSNP:rs2065958).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCGTCTTGGGATG	0.607									Ichthyosis																																							0			1						C		87,4307		0,87,2110	459	597	550		8343	-6.8	0	1	dbSNP_129	550	660,7940		0,660,3640	no	coding-synonymous	FLG	NM_002016.1		0,747,5750	AA,AG,GG		7.6744,1.98,5.7488		2781/4062	152279019	747,12247	2197	4300	6497	150545643	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8343C>T	1.37:g.152279019G>A			150545643	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152279019	G	A	152279019	2	1	322	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152279019	Silent	SNP	G	TCGA-29-1690-01A-01W-0633-09	464	152279019	96971602	8	17074											
TOR1AIP1	26092	genome.wustl.edu	37	1	179870480	179870481	+	Frame_Shift_Ins	INS	-	-	A	rs570033626		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:179870480_179870481insA	ENST00000606911.2	+	5	887_888	c.696_697insA	c.(697-699)actfs	p.T233fs	RN7SL230P_ENST00000580835.1_RNA|TOR1AIP1_ENST00000271583.3_Frame_Shift_Ins_p.T234fs|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000435319.4_Frame_Shift_Ins_p.T112fs|TOR1AIP1_ENST00000528443.2_Frame_Shift_Ins_p.T234fs			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	233					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ACAGCAGTGTCACTACTGTTAA	0.356																																																0			1																																								178137104	SO:0001589	frameshift_variant	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.697dupA	1.37:g.179870481_179870481dupA	ENSP00000476687:p.Thr233fs		178137103	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Frame_Shift_Ins	INS	ENST00000606911.2	37	CCDS1335.1																																																																																				0.356	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		A	179870481	-	A	179870480	7	5	322	1	0	1	1	0	0	0	0	0	16372	813	29	0	714	0	TOR1AIP1	1	179870480	Frame_Shift_Ins	INS	-	TCGA-29-1690-01A-01W-0633-09	27591461	179870480	69380141	9	17075											
COG2	22796	genome.wustl.edu	37	1	230820961	230820961	+	Silent	SNP	A	A	G			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:230820961A>G	ENST00000366669.4	+	12	1474	c.1359A>G	c.(1357-1359)cgA>cgG	p.R453R	COG2_ENST00000366668.3_Silent_p.R453R|COG2_ENST00000535166.1_Silent_p.R337R|COG2_ENST00000534989.1_Silent_p.R394R|COG2_ENST00000546013.1_Silent_p.R142R	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	453					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTTTGGCACGATACTCTGTGT	0.433																																																0			1											209	189	196					1																	230820961		2203	4300	6503	228887584	SO:0001819	synonymous_variant	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1359A>G	1.37:g.230820961A>G			228887584	Q86U99	Silent	SNP	ENST00000366669.4	37	CCDS1584.1																																																																																				0.433	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		G	230820961	A	G	230820961	2	3	322	1	0	0	0	0	0	0	0	1	3658	320	12	4		4	COG2	1	230820961	Silent	SNP	A	TCGA-29-1690-01A-01W-0633-09	50950481	230820961	18429660	10	17076											
OR2T2	401992	genome.wustl.edu	37	1	248616764	248616764	+	Silent	SNP	C	C	T	rs376553658		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																																0			1											182	125	144					1																	248616764		2186	4264	6450	246683387	SO:0001819	synonymous_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T			246683387	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																				0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		T	248616764	C	T	248616764	2	4	322	1	0	0	0	0	0	0	0	1	11020	845	30	2		2	OR2T2	1	248616764	Silent	SNP	C	TCGA-29-1690-01A-01W-0633-09	17795803	248616764	633857	11	17077											
GPR113	165082	genome.wustl.edu	37	2	26534454	26534454	+	Silent	SNP	G	G	A	rs114938027	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr2:26534454G>A	ENST00000311519.1	-	11	2141	c.2142C>T	c.(2140-2142)caC>caT	p.H714H	GPR113_ENST00000333478.6_Silent_p.H515H|GPR113_ENST00000541401.1_Silent_p.H317H|GPR113_ENST00000421160.2_Silent_p.H645H|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	714	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGACACAGTGAGGGGAAC	0.602													G|||	25	0.00499201	0	0.013	5008	,	,		18624	0		0.0149	False		,,,				2504	0.001															0			2						G	,,	14,4392	21.2+/-45.6	0,14,2189	70	72	72		2142,1935,1545	1.9	1	2	dbSNP_132	72	149,8451	72.6+/-135.2	1,147,4152	no	coding-synonymous,coding-synonymous,coding-synonymous	GPR113	NM_001145168.1,NM_001145169.1,NM_153835.3	,,	1,161,6341	AA,AG,GG		1.7326,0.3177,1.2533	,,	714/1080,645/998,515/874	26534454	163,12843	2203	4300	6503	26387958	SO:0001819	synonymous_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2142C>T	2.37:g.26534454G>A			26387958	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	CCDS46239.1																																																																																				0.602	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		A	26534454	G	A	26534454	2	1	322	1	0	0	0	0	0	0	0	1	6630	1020	36	2		2	GPR113	2	26534454	Silent	SNP	G	TCGA-29-1690-01A-01W-0633-09		26534454	216664919	12	17078											
SOS1	6654	genome.wustl.edu	37	2	39213140	39213140	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr2:39213140G>A	ENST00000426016.1	-	24	3913	c.3827C>T	c.(3826-3828)cCa>cTa	p.P1276L	SOS1_ENST00000402219.2_Missense_Mutation_p.P1276L|SOS1_ENST00000395038.2_Missense_Mutation_p.P1261L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1276					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGTCAATGGTGGTGATGGCAG	0.517									Noonan syndrome																																							0			2											227	200	209					2																	39213140		2203	4300	6503	39066644	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3827C>T	2.37:g.39213140G>A	ENSP00000387784:p.Pro1276Leu		39066644	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048863	0.55110	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.76839	-1.05;-1.05;-1.03	5.15	5.15	0.70609	.	0.122334	0.56097	D	0.000033	D	0.82282	0.5003	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75695	-0.3228	10	0.10377	T	0.69	.	18.8089	0.92050	0.0:0.0:1.0:0.0	.	1276	Q07889	SOS1_HUMAN	L	1276;1276;993;1261	ENSP00000387784:P1276L;ENSP00000384675:P1276L;ENSP00000378479:P1261L	ENSP00000378479:P1261L	P	-	2	0	SOS1	39066644	1.000000	0.71417	0.999000	0.59377	0.692000	0.40212	6.609000	0.74173	2.673000	0.90976	0.557000	0.71058	CCA		0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		A	39213140	G	A	39213140	3	1	322	1	0	0	0	0	1	0	0	0	14939	1348	47	2	178	2	SOS1	2	39213140	Missense_Mutation	SNP	G	TCGA-29-1690-01A-01W-0633-09	12678686	39213140	203986233	13	17079											
GPR1	2825	genome.wustl.edu	37	2	207041797	207041797	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr2:207041797C>T	ENST00000407325.2	-	3	537	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	GPR1_ENST00000437420.1_Missense_Mutation_p.V59I	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	59					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AACCAAATGACGATGGCATTT	0.468																																																0			2											171	178	176					2																	207041797		2203	4300	6503	206750042	SO:0001583	missense	2825				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.175G>A	2.37:g.207041797C>T	ENSP00000384345:p.Val59Ile		206750042	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748164	0.49257	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845;ENST00000439932;ENST00000411719	D;D;D;D;D;T;T	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;0.97;0.97	5.84	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.065305	0.64402	N	0.000010	D	0.83440	0.5255	M	0.85462	2.755	0.58432	D	0.999998	P	0.38504	0.634	B	0.32393	0.145	D	0.85360	0.1107	10	0.66056	D	0.02	.	14.991	0.71387	0.0:0.9318:0.0:0.0682	.	59	P46091	GPR1_HUMAN	I	59	ENSP00000384345:V59I;ENSP00000397535:V59I;ENSP00000414836:V59I;ENSP00000391146:V59I;ENSP00000414524:V59I;ENSP00000409577:V59I;ENSP00000404861:V59I	ENSP00000384345:V59I	V	-	1	0	GPR1	206750042	1.000000	0.71417	0.938000	0.37757	0.430000	0.31655	6.048000	0.71046	1.483000	0.48342	-0.145000	0.13849	GTC		0.468	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		T	207041797	C	T	207041797	3	4	322	1	0	0	0	0	1	0	0	0	6621	536	19	1	896	1	GPR1	2	207041797	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09	167828657	207041797	36157576	14	17080											
NICN1	84276	genome.wustl.edu	37	3	49463700	49463700	+	Silent	SNP	C	C	T	rs114877151	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr3:49463700C>T	ENST00000273598.3	-	2	380	c.294G>A	c.(292-294)tcG>tcA	p.S98S	NICN1_ENST00000436744.2_Silent_p.S98S|NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	98						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTTGAACAGCGATACATACT	0.577													C|||	76	0.0151757	0.0015	0.0288	5008	,	,		18862	0.0129		0.0239	False		,,,				2504	0.0174															0			3						C		23,4383	29.9+/-59.1	0,23,2180	66	57	60		294	-3.2	1	3	dbSNP_132	60	299,8301	109.6+/-170.1	3,293,4004	no	coding-synonymous	NICN1	NM_032316.3		3,316,6184	TT,TC,CC		3.4767,0.522,2.4758		98/214	49463700	322,12684	2203	4300	6503	49438704	SO:0001819	synonymous_variant	84276			AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.294G>A	3.37:g.49463700C>T			49438704	Q8IZQ2	Silent	SNP	ENST00000273598.3	37	CCDS2798.1																																																																																				0.577	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		T	49463700	C	T	49463700	2	4	322	1	0	0	0	0	0	0	0	1	10413	755	27	1		1	NICN1	3	49463700	Silent	SNP	C	TCGA-29-1690-01A-01W-0633-09		49463700	148558730	15	17081											
STAB1	23166	genome.wustl.edu	37	3	52551010	52551010	+	Silent	SNP	C	C	T	rs79979130	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr3:52551010C>T	ENST00000321725.6	+	42	4450	c.4374C>T	c.(4372-4374)ccC>ccT	p.P1458P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1458	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGTGGACCCCTGCGCCCACG	0.652													C|||	219	0.04373	0.0129	0.0893	5008	,	,		15664	0.0228		0.0905	False		,,,				2504	0.0266															0			3						C		84,4322	61.7+/-98.7	1,82,2120	44	49	47		4374	-0.5	1	3	dbSNP_132	47	687,7909	156.9+/-210.6	34,619,3645	yes	coding-synonymous	STAB1	NM_015136.2		35,701,5765	TT,TC,CC		7.9921,1.9065,5.9299		1458/2571	52551010	771,12231	2203	4298	6501	52526050	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4374C>T	3.37:g.52551010C>T			52526050	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																				0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52551010	C	T	52551010	2	4	322	1	0	0	0	0	0	0	0	1	15239	668	24	2		2	STAB1	3	52551010	Silent	SNP	C	TCGA-29-1690-01A-01W-0633-09	3087310	52551010	145471420	16	17082											
FILIP1L	11259	genome.wustl.edu	37	3	99568229	99568229	+	Missense_Mutation	SNP	A	A	G	rs202066216		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr3:99568229A>G	ENST00000354552.3	-	5	2761	c.2291T>C	c.(2290-2292)aTt>aCt	p.I764T	FILIP1L_ENST00000487087.1_Missense_Mutation_p.I340T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.I524T|FILIP1L_ENST00000331335.5_Missense_Mutation_p.I764T|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.I524T	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	764						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GAGGTTTTCAATCTCTCTTCC	0.413																																																0			3						A	THR/ILE,THR/ILE,,THR/ILE	1,3689		0,1,1844	175	157	163		2291,1571,,2291	4.6	1	3		163	2,8164		0,2,4081	no	missense,missense,intron,missense	FILIP1L,C3orf26	NM_001042459.1,NM_014890.2,NM_032359.3,NM_182909.2	89,89,,89	0,3,5925	GG,GA,AA		0.0245,0.0271,0.0253	benign,benign,,benign	764/1134,524/894,,764/1136	99568229	3,11853	1845	4083	5928	101050919	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2291T>C	3.37:g.99568229A>G	ENSP00000346560:p.Ile764Thr		101050919	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604366	0.28534	2.71E-4	2.45E-4	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.26810	2.02;1.73;1.71;2.02;1.71;1.71	5.74	4.58	0.56647	.	0.000000	0.51477	D	0.000089	T	0.15955	0.0384	N	0.14661	0.345	0.39674	D	0.970792	P;P	0.37276	0.589;0.454	B;B	0.35770	0.21;0.104	T	0.07539	-1.0767	10	0.59425	D	0.04	-9.887	11.5424	0.50673	0.9301:0.0:0.0699:0.0	.	764;764	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	764;340;524;764;524;510;524	ENSP00000346560:I764T;ENSP00000417774:I340T;ENSP00000419642:I524T;ENSP00000327880:I764T;ENSP00000373192:I524T;ENSP00000419874:I524T	ENSP00000327880:I764T	I	-	2	0	FILIP1L	101050919	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.455000	0.80726	0.999000	0.39023	0.460000	0.39030	ATT		0.413	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		G	99568229	A	G	99568229	3	3	322	1	0	0	0	0	1	0	0	0	5895	101	4	4	1145	4	FILIP1L	3	99568229	Missense_Mutation	SNP	A	TCGA-29-1690-01A-01W-0633-09	47017219	99568229	98454201	17	17083											
TUBB	203068	genome.wustl.edu	37	6	30691286	30691286	+	Silent	SNP	T	T	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr6:30691286T>A	ENST00000327892.8	+	4	753	c.447T>A	c.(445-447)acT>acA	p.T149T	TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396384.1_Silent_p.T77T|TUBB_ENST00000396389.1_Silent_p.T131T|TUBB_ENST00000330914.3_Silent_p.T77T|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	149					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GAATGGGCACTCTCCTTATCA	0.572																																																0			6											70	68	69					6																	30691286		2203	4300	6503	30799265	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.447T>A	6.37:g.30691286T>A			30799265	P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	CCDS4687.1																																																																																				0.572	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		A	30691286	T	A	30691286	2	1	322	1	0	0	0	0	0	0	0	1	16752	1538	54	5		5	TUBB	6	30691286	Silent	SNP	T	TCGA-29-1690-01A-01W-0633-09		30691286	140423781	18	17084											
BAT2	7916	genome.wustl.edu	37	6	31595773	31595784	+	In_Frame_Del	DEL	CCTGCTGCCCCA	CCTGCTGCCCCA	-	rs375038051|rs149965706	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	CCTGCTGCCCCA	CCTGCTGCCCCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr6:31595773_31595784delCCTGCTGCCCCA	ENST00000376033.2	+	12	1756_1767	c.1522_1533delCCTGCTGCCCCA	c.(1522-1533)cctgctgccccadel	p.PAAP512del	PRRC2A_ENST00000376007.4_In_Frame_Del_p.PAAP512del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	512	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAAAGCAGAGCCTGCTGCCCCACCTGCTGCCC	0.618														606	0.121006	0.059	0.183	5008	,	,		19193	0.129		0.161	False		,,,				2504	0.1115															0			6							,	244,3224		16,212,1506					,	2.8	1		dbSNP_131	117	848,6310		75,698,2806	no	coding,coding	PRRC2A	NM_080686.2,NM_004638.3	,	91,910,4312	A1A1,A1R,RR		11.8469,7.0358,10.2767	,	,		1092,9534				31703763	SO:0001651	inframe_deletion	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1522_1533delCCTGCTGCCCCA	6.37:g.31595773_31595784delCCTGCTGCCCCA	ENSP00000365201:p.Pro512_Pro515del		31703752	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	In_Frame_Del	DEL	ENST00000376033.2	37	CCDS4708.1																																																																																				0.618	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		-	31595784	CCTGCTGCCCCA	-	31595773	7	5	322	1	0	1	0	1	0	0	0	0	1319	739	26	0	1564	0	BAT2	6	31595773	In_Frame_Del	DEL	CCTGCTGCCCCA	TCGA-29-1690-01A-01W-0633-09	904487	31595773	139519294	19	17085											
LPA	4018	genome.wustl.edu	37	6	160968909	160968909	+	Missense_Mutation	SNP	G	G	A	rs201624944		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr6:160968909G>A	ENST00000316300.5	-	32	5260	c.5216C>T	c.(5215-5217)aCg>aTg	p.T1739M	LPA_ENST00000447678.1_Missense_Mutation_p.T1739M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4247	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.T1739M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGCATGGCGTCCCAGTAAC	0.453																																																1	Substitution - Missense(1)	large_intestine(1)	6						G	MET/THR	0,4404		0,0,2202	99	107	104		5216	0.6	0	6		104	2,8598	811.6+/-407.1	0,2,4298	no	missense	LPA	NM_005577.2	81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1739/2041	160968909	2,13002	2202	4300	6502	160888899	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5216C>T	6.37:g.160968909G>A	ENSP00000321334:p.Thr1739Met		160888899	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	a	0.039	-1.294328	0.01375	0.0	2.33E-4	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62639	0.01;0.01	2.49	0.589	0.17452	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.26629	0.0651	L	0.45470	1.425	0.09310	N	1	P	0.43788	0.817	B	0.37047	0.24	T	0.12142	-1.0559	9	0.49607	T	0.09	.	2.4601	0.04539	0.2899:0.0:0.4779:0.2322	.	4247	P08519	APOA_HUMAN	M	1739	ENSP00000321334:T1739M;ENSP00000395608:T1739M	ENSP00000321334:T1739M	T	-	2	0	LPA	160888899	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.053000	0.11846	0.001000	0.14605	0.184000	0.17185	ACG		0.453	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		A	160968909	G	A	160968909	3	1	322	1	0	0	0	0	1	0	0	0	8903	1145	40	1	938	1	LPA	6	160968909	Missense_Mutation	SNP	G	TCGA-29-1690-01A-01W-0633-09	129373136	160968909	10146158	20	17086											
RSPH10B	222967	genome.wustl.edu	37	7	6005323	6005323	+	Missense_Mutation	SNP	C	C	T	rs200962894	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr7:6005323C>T	ENST00000405415.1	-	3	661	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RSPH10B_ENST00000535104.1_5'Flank|RSPH10B_ENST00000404406.1_Missense_Mutation_p.R92H|RSPH10B_ENST00000441023.2_Missense_Mutation_p.R92H|RSPH10B_ENST00000337579.3_Missense_Mutation_p.R92H			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	92										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ATACAGCCCACGAACCTTTTC	0.438													C|||	294	0.0587061	0.0166	0.121	5008	,	,		13170	0.0149		0.1362	False		,,,				2504	0.0368															0			7											4	4	4					7																	6005323		1653	3655	5308	5971849	SO:0001583	missense	222967				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.275G>A	7.37:g.6005323C>T	ENSP00000385443:p.Arg92His		5971849	A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	CCDS34598.1	104	0.047619047619047616	9	0.018292682926829267	29	0.08011049723756906	2	0.0034965034965034965	64	0.08443271767810026	C	4.777	0.144454	0.09134	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.73	0.597	0.17504	.	0.588391	0.17861	N	0.159518	T	0.01156	0.0038	N	0.21508	0.67	0.09310	N	1	B	0.26876	0.162	B	0.24394	0.053	T	0.05903	-1.0857	10	0.42905	T	0.14	.	5.1232	0.14871	0.0:0.4291:0.1466:0.4243	.	92	P0C881	R10B1_HUMAN	H	92	ENSP00000385443:R92H;ENSP00000384097:R92H;ENSP00000338556:R92H;ENSP00000400988:R92H	ENSP00000338556:R92H	R	-	2	0	RSPH10B	5971849	0.011000	0.17503	0.159000	0.22649	0.202000	0.24057	0.078000	0.14761	0.040000	0.15660	0.561000	0.74099	CGT		0.438	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		T	6005323	C	T	6005323	3	4	322	1	0	0	0	0	1	0	0	0	13706	536	19	1	2409	1	RSPH10B	7	6005323	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09		6005323	153133340	21	17087											
RSPH10B	728194	genome.wustl.edu	37	7	6798735	6798735	+	Missense_Mutation	SNP	G	G	A	rs199536223		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr7:6798735G>A	ENST00000403107.1	+	3	662	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RSPH10B2_ENST00000433859.2_Missense_Mutation_p.R92H|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.R92H|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.R92H			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	92										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAAAAGGTTCGTGGGCTGTAT	0.438																																																0			7						G	HIS/ARG	8,3516		0,8,1754	5	5	5		275	1.3	0.9	7		5	125,7477		0,125,3676	no	missense	RSPH10B2	NM_001099697.1	29	0,133,5430	AA,AG,GG		1.6443,0.227,1.1954	benign	92/871	6798735	133,10993	1762	3801	5563	6765260	SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.275G>A	7.37:g.6798735G>A	ENSP00000384766:p.Arg92His		6765260	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	37	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	G	4.629	0.116979	0.08881	0.00227	0.016443	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.21	1.33	0.21861	.	0.588391	0.17861	N	0.159518	T	0.12902	0.0313	N	0.21583	0.68	0.24340	N	0.994965	B	0.23316	0.083	B	0.22386	0.039	T	0.10823	-1.0613	10	0.45353	T	0.12	.	5.6641	0.17684	0.3696:0.0:0.6304:0.0	.	92	B2RC85	R10B2_HUMAN	H	92	ENSP00000384766:R92H;ENSP00000386102:R92H;ENSP00000297186:R92H;ENSP00000416710:R92H	ENSP00000297186:R92H	R	+	2	0	RSPH10B2	6765260	0.097000	0.21791	0.863000	0.33907	0.273000	0.26683	0.336000	0.19823	0.198000	0.20407	0.398000	0.26397	CGT		0.438	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		A	6798735	G	A	6798735	3	1	322	1	0	0	0	0	1	0	0	0	13706	1145	40	1	2970	1	RSPH10B	7	6798735	Missense_Mutation	SNP	G	TCGA-29-1690-01A-01W-0633-09	793412	6798735	152339928	22	17088											
RP1L1	94137	genome.wustl.edu	37	8	10467604	10467604	+	Missense_Mutation	SNP	C	C	A	rs74366179		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr8:10467604C>A	ENST00000382483.3	-	4	4227	c.4004G>T	c.(4003-4005)gGg>gTg	p.G1335V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1351	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		G -> R (in allele RP1L1-2 and allele RP1L1-3; dbSNP:rs61503212).|Missing (in allele RP1L1-1).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		taactgcaccccctcttcttg	0.463																																																0			8						C	VAL/GLY	516,3388		31,454,1467	118	115	116		4004	-0.4	0	8	dbSNP_131	116	1257,7009		110,1037,2986	yes	missense	RP1L1	NM_178857.5	109	141,1491,4453	AA,AC,CC		15.2069,13.2172,14.5686	probably-damaging	1335/2401	10467604	1773,10397	1952	4133	6085	10505014	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4004G>T	8.37:g.10467604C>A	ENSP00000371923:p.Gly1335Val		10505014	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	383	0.17536630036630035	73	0.1483739837398374	68	0.1878453038674033	127	0.22202797202797203	115	0.1517150395778364	c	10.70	1.422679	0.25639	0.132172	0.152069	ENSG00000183638	ENST00000382483	T	0.05855	3.38	2.91	-0.449	0.12226	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	5.999999999950489E-6	D	0.65815	0.995	P	0.53185	0.72	T	0.51060	-0.8753	8	0.72032	D	0.01	.	6.5765	0.22569	0.0:0.4875:0.0:0.5125	.	1335	A6NKC6	.	V	1335	ENSP00000371923:G1335V	ENSP00000371923:G1335V	G	-	2	0	RP1L1	10505014	0.000000	0.05858	0.004000	0.12327	0.297000	0.27493	-0.865000	0.04250	0.008000	0.14787	0.462000	0.41574	GGG		0.463	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			A	10467604	C	A	10467604	3	1	322	1	0	0	0	0	1	0	0	0	13536	623	22	3	3202	3	RP1L1	8	10467604	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09		10467604	135896418	23	17089											
CDK5RAP2	55755	genome.wustl.edu	37	9	123234045	123234045	+	Silent	SNP	G	G	A	rs372200995		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr9:123234045G>A	ENST00000349780.4	-	16	2018	c.1839C>T	c.(1837-1839)agC>agT	p.S613S	CDK5RAP2_ENST00000360190.4_Silent_p.S613S|CDK5RAP2_ENST00000359309.3_Silent_p.S613S|CDK5RAP2_ENST00000360822.3_Silent_p.S613S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	613					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCCGAATTTCGCTGatctgct	0.463													G|||	1	0.000199681	8e-04	0	5008	,	,		18352	0		0	False		,,,				2504	0															0			9						G	,	1,4405	2.1+/-5.4	0,1,2202	116	111	113		1839,1839	-10.6	0.1	9		113	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDK5RAP2	NM_001011649.1,NM_018249.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	613/1815,613/1894	123234045	1,13005	2203	4300	6503	122273866	SO:0001819	synonymous_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1839C>T	9.37:g.123234045G>A			122273866	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	CCDS6823.1																																																																																				0.463	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		A	123234045	G	A	123234045	2	1	322	1	0	0	0	0	0	0	0	1	3146	1078	38	1		1	CDK5RAP2	9	123234045	Silent	SNP	G	TCGA-29-1690-01A-01W-0633-09		123234045	17979386	24	17090											
GJD4	219770	genome.wustl.edu	37	10	35896700	35896700	+	Missense_Mutation	SNP	C	C	T	rs76906304	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr10:35896700C>T	ENST00000321660.1	+	2	417	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	87					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTGCGTCCTCCTCCCCTCCGC	0.706													C|||	33	0.00658946	0	0.013	5008	,	,		11126	0		0.0119	False		,,,				2504	0.0123															0			10						C	PHE/LEU	16,4390	21.2+/-45.6	0,16,2187	148	122	131		259	4.3	0.1	10	dbSNP_131	131	148,8452	70.7+/-133.2	1,146,4153	yes	missense	GJD4	NM_153368.2	22	1,162,6340	TT,TC,CC		1.7209,0.3631,1.261	probably-damaging	87/371	35896700	164,12842	2203	4300	6503	35936706	SO:0001583	missense	219770			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"Ion channels / Gap junction proteins (connexins)"	23296	protein-coding gene	gene with protein product	"connexin 40.1"	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.259C>T	10.37:g.35896700C>T	ENSP00000315070:p.Leu87Phe		35936706	Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	CCDS7191.1	12	0.005494505494505495	0	0.0	5	0.013812154696132596	0	0.0	7	0.009234828496042216	C	15.31	2.795160	0.50208	0.003631	0.017209	ENSG00000177291	ENST00000321660	D	0.99129	-5.46	6.11	4.27	0.50696	Connexin, N-terminal (1);	0.215706	0.41938	N	0.000797	D	0.97228	0.9094	L	0.56769	1.78	0.51233	D	0.999916	D	0.52996	0.957	P	0.55087	0.768	D	0.93664	0.6984	10	0.62326	D	0.03	.	13.6296	0.62188	0.0:0.8795:0.0:0.1205	.	87	Q96KN9	CXD4_HUMAN	F	87	ENSP00000315070:L87F	ENSP00000315070:L87F	L	+	1	0	GJD4	35936706	0.680000	0.27605	0.144000	0.22314	0.036000	0.12997	1.246000	0.32803	0.916000	0.36871	0.655000	0.94253	CTC		0.706	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		T	35896700	C	T	35896700	3	4	322	1	0	0	0	0	1	0	0	0	6419	681	24	2	265	2	GJD4	10	35896700	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09		35896700	99638047	25	17091											
GBF1	8729	genome.wustl.edu	37	10	104136549	104136549	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr10:104136549T>C	ENST00000369983.3	+	32	4537	c.4277T>C	c.(4276-4278)cTg>cCg	p.L1426P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1426					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GAGGCCAGTCTGAATGGCGGT	0.562																																																0			10											50	51	50					10																	104136549		2203	4300	6503	104126539	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4277T>C	10.37:g.104136549T>C	ENSP00000359000:p.Leu1426Pro		104126539	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017466	0.75161	.	.	ENSG00000107862	ENST00000369983	T	0.15017	2.46	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.995	D;D;P	0.71184	0.972;0.929;0.88	T	0.30060	-0.9991	10	0.51188	T	0.08	-7.24	14.8604	0.70376	0.0:0.0:0.0:1.0	.	1426;1426;1426	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	P	1426	ENSP00000359000:L1426P	ENSP00000359000:L1426P	L	+	2	0	GBF1	104126539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.100000	0.63781	0.379000	0.24179	CTG		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			C	104136549	T	C	104136549	3	2	322	1	0	0	0	0	1	0	0	0	6271	1580	55	4	4399	4	GBF1	10	104136549	Missense_Mutation	SNP	T	TCGA-29-1690-01A-01W-0633-09	68239849	104136549	31398198	26	17092											
SFXN2	118980	genome.wustl.edu	37	10	104486513	104486513	+	Silent	SNP	G	G	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr10:104486513G>A	ENST00000369893.5	+	2	287	c.120G>A	c.(118-120)gaG>gaA	p.E40E	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	40					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TTGTATCTGAGCGGGAGCTGG	0.587																																																0			10											70	71	70					10																	104486513		2203	4300	6503	104476503	SO:0001819	synonymous_variant	118980			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"Sideroflexins"	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.120G>A	10.37:g.104486513G>A			104476503	Q5JSM6	Silent	SNP	ENST00000369893.5	37	CCDS7539.1																																																																																				0.587	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2	XM_058359		A	104486513	G	A	104486513	2	1	322	1	0	0	0	0	0	0	0	1	14198	962	34	2		2	SFXN2	10	104486513	Silent	SNP	G	TCGA-29-1690-01A-01W-0633-09	349964	104486513	31048234	27	17093											
STRN3	29966	genome.wustl.edu	37	14	31416427	31416427	+	Silent	SNP	T	T	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr14:31416427T>C	ENST00000357479.5	-	5	781	c.585A>G	c.(583-585)gtA>gtG	p.V195V	STRN3_ENST00000355683.5_Silent_p.V195V	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	195					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GCTGAGACCGTACATCTAATA	0.348																																																0			14											147	142	144					14																	31416427		2203	4300	6503	30486178	SO:0001819	synonymous_variant	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.585A>G	14.37:g.31416427T>C			30486178	A2RTX7|A6NHZ7|Q9NRA5	Silent	SNP	ENST00000357479.5	37	CCDS41938.1																																																																																				0.348	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		C	31416427	T	C	31416427	2	2	322	1	0	0	0	0	0	0	0	1	15332	1625	57	4		4	STRN3	14	31416427	Silent	SNP	T	TCGA-29-1690-01A-01W-0633-09		31416427	75933113	28	17094											
SYNE2	23224	genome.wustl.edu	37	14	64681123	64681123	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr14:64681123G>C	ENST00000344113.4	+	106	19480	c.19268G>C	c.(19267-19269)gGc>gCc	p.G6423A	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.G3057A|SYNE2_ENST00000358025.3_Missense_Mutation_p.G6423A|SYNE2_ENST00000458046.2_Missense_Mutation_p.G57A|SYNE2_ENST00000357395.3_Missense_Mutation_p.G2808A|SYNE2_ENST00000394768.2_Missense_Mutation_p.G2808A|SYNE2_ENST00000555022.1_Missense_Mutation_p.G301A|SYNE2_ENST00000554584.1_Missense_Mutation_p.G6365A|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000554805.1_Missense_Mutation_p.G206A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6423					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACCACACAGGCGACGTGGGG	0.642																																																0			14											52	51	51					14																	64681123		2203	4300	6503	63750876	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19268G>C	14.37:g.64681123G>C	ENSP00000341781:p.Gly6423Ala		63750876	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293363	0.40594	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046	T;T;T;T;T;T;T;T;T	0.58652	0.68;4.03;0.71;0.32;4.08;4.03;3.76;3.27;2.91	5.27	5.27	0.74061	.	0.000000	0.50627	D	0.000102	T	0.71187	0.3310	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.974;0.997;0.991;0.999	D;D;D;P;P;D;D	0.97110	0.987;0.968;1.0;0.761;0.894;0.909;0.982	T	0.64841	-0.6312	10	0.25106	T	0.35	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	57;2808;57;811;6365;6423;6423	B4DND7;Q8WXH0-7;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	A	6423;2808;6423;6365;6371;3057;2808;301;206;57	ENSP00000350719:G6423A;ENSP00000349969:G2808A;ENSP00000341781:G6423A;ENSP00000452570:G6365A;ENSP00000450831:G3057A;ENSP00000378249:G2808A;ENSP00000451009:G301A;ENSP00000450605:G206A;ENSP00000391937:G57A	ENSP00000261678:G6371A	G	+	2	0	SYNE2	63750876	0.979000	0.34478	0.938000	0.37757	0.985000	0.73830	1.903000	0.39858	2.735000	0.93741	0.655000	0.94253	GGC		0.642	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64681123	G	C	64681123	3	2	322	1	0	0	0	0	1	0	0	0	15446	1203	42	3	19686	3	SYNE2	14	64681123	Missense_Mutation	SNP	G	TCGA-29-1690-01A-01W-0633-09	33264696	64681123	42668417	29	17095											
SPTB	6710	genome.wustl.edu	37	14	65216823	65216825	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	AGA	AGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr14:65216823_65216825delAGA	ENST00000556626.1	-	34	6792_6794	c.6650_6652delTCT	c.(6649-6654)ttctac>tac	p.F2217del	SPTB_ENST00000389722.3_In_Frame_Del_p.F2217del|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCATCCTTGTAGAAGGTTAGCTC	0.532																																																0			14																																								64286578	SO:0001651	inframe_deletion	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6650_6652delTCT	14.37:g.65216823_65216825delAGA	ENSP00000451752:p.Phe2217del		64286576	Q15510|Q15519	In_Frame_Del	DEL	ENST00000556626.1	37	CCDS32099.1																																																																																				0.532	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			-	65216825	AGA	-	65216823	7	5	322	1	0	1	0	1	0	0	0	0	15120	420	15	0	346	0	SPTB	14	65216823	In_Frame_Del	DEL	AGA	TCGA-29-1690-01A-01W-0633-09	535700	65216823	42132717	30	17096											
TTC9	23508	genome.wustl.edu	37	14	71134379	71134379	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr14:71134379C>T	ENST00000256367.2	+	2	848	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	169										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGCCCTTTACCGGTCTGGTGT	0.502																																																0			14											152	149	150					14																	71134379		1963	4148	6111	70204132	SO:0001583	missense	23508			D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"Tetratricopeptide (TTC) repeat domain containing"	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.505C>T	14.37:g.71134379C>T	ENSP00000256367:p.Arg169Trp		70204132	Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953267	0.53293	.	.	ENSG00000133985	ENST00000256367	T	0.66638	-0.22	5.02	2.01	0.26516	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000005	D	0.85270	0.5658	H	0.94306	3.52	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	D	0.87648	0.2526	10	0.87932	D	0	-18.5558	13.474	0.61297	0.5641:0.4359:0.0:0.0	.	169	Q92623	TTC9A_HUMAN	W	169	ENSP00000256367:R169W	ENSP00000256367:R169W	R	+	1	2	TTC9	70204132	1.000000	0.71417	0.996000	0.52242	0.272000	0.26649	2.250000	0.43178	0.222000	0.20900	0.655000	0.94253	CGG		0.502	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		T	71134379	C	T	71134379	3	4	322	1	0	0	0	0	1	0	0	0	16715	643	23	1	511	1	TTC9	14	71134379	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09	5917556	71134379	36215161	31	17097											
SEZ6L2	26470	genome.wustl.edu	37	16	29899021	29899021	+	Missense_Mutation	SNP	C	C	T	rs117448844	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr16:29899021C>T	ENST00000308713.5	-	7	1684	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R316H|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R272H|SEZ6L2_ENST00000562159.1_5'Flank|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R342H	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	386	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCAGCCGGCGCCCCTCAGC	0.637													C|||	6	0.00119808	0	0.0043	5008	,	,		15751	0		0.003	False		,,,				2504	0															0			16						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	4,4390	8.1+/-20.4	0,4,2193	78	72	74		947,815,947,1157	5.7	1	16	dbSNP_132	74	26,8574	19.8+/-62.0	0,26,4274	yes	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	29,29,29,29	0,30,6467	TT,TC,CC		0.3023,0.091,0.2309	benign,benign,benign,benign	316/841,272/810,316/854,386/911	29899021	30,12964	2197	4300	6497	29806522	SO:0001583	missense	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1157G>A	16.37:g.29899021C>T	ENSP00000312550:p.Arg386His		29806522	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	4	0.0018315018315018315	0	0.0	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	21.9	4.221861	0.79464	9.1E-4	0.003023	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.72	5.72	0.89469	CUB (4);	0.000000	0.56097	D	0.000031	T	0.13798	0.0334	N	0.02296	-0.605	0.35617	D	0.809155	B;B;B;B;B;B	0.24963	0.039;0.07;0.07;0.115;0.07;0.115	B;B;B;B;B;B	0.14023	0.01;0.003;0.002;0.006;0.003;0.006	T	0.30475	-0.9977	10	0.15066	T	0.55	.	8.9111	0.35555	0.0:0.8417:0.0:0.1583	.	342;386;272;316;386;316	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	H	316;386;272;342	ENSP00000310206:R316H;ENSP00000312550:R386H;ENSP00000319215:R272H;ENSP00000439412:R342H	ENSP00000312550:R386H	R	-	2	0	SEZ6L2	29806522	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.553000	0.67287	2.720000	0.93068	0.555000	0.69702	CGC		0.637	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		T	29899021	C	T	29899021	3	4	322	1	0	0	0	0	1	0	0	0	14147	768	27	1	1662	1	SEZ6L2	16	29899021	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09		29899021	60455732	32	17098											
CLEC18A	348174	genome.wustl.edu	37	16	69985383	69985383	+	Silent	SNP	G	G	A	rs4985466		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr16:69985383G>A	ENST00000288040.6	+	1	301	c.114G>A	c.(112-114)ccG>ccA	p.P38P	CLEC18A_ENST00000568461.1_Silent_p.P38P|CLEC18A_ENST00000449317.2_Silent_p.P38P|CLEC18A_ENST00000393701.2_Silent_p.P38P	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	38						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						AGCAGGCTCCGATGGCCGGAG	0.667																																																0			16											49	50	50					16																	69985383		1509	3170	4679	68542884	SO:0001819	synonymous_variant	348174			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.114G>A	16.37:g.69985383G>A			68542884	A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Silent	SNP	ENST00000288040.6	37	CCDS10886.1																																																																																				0.667	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		A	69985383	G	A	69985383	2	1	322	1	0	0	0	0	0	0	0	1	3502	1045	37	1		1	CLEC18A	16	69985383	Silent	SNP	G	TCGA-29-1690-01A-01W-0633-09	40086362	69985383	20369370	33	17099											
DNAH2	146754	genome.wustl.edu	37	17	7640394	7640394	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:7640394C>T	ENST00000572933.1	+	8	2448	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R330C|DNAH2_ENST00000570791.1_Missense_Mutation_p.R330C|DNAH2_ENST00000082259.3_Missense_Mutation_p.R330C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	330	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGATGGCTCTCGTCAAGCACA	0.403																																																0			17											108	98	101					17																	7640394		2203	4300	6503	7581119	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.988C>T	17.37:g.7640394C>T	ENSP00000458355:p.Arg330Cys		7581119	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173587	0.21704	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55930	0.49;0.49	5.8	-1.73	0.08081	Dynein heavy chain, domain-1 (1);	3.209450	0.00815	N	0.001525	T	0.36799	0.0980	L	0.29908	0.895	0.09310	N	1	B;B	0.29646	0.001;0.253	B;B	0.26310	0.003;0.068	T	0.14254	-1.0479	10	0.56958	D	0.05	.	1.0803	0.01641	0.2192:0.2403:0.3226:0.2179	.	330;330	Q9P225;Q9P225-3	DYH2_HUMAN;.	C	330	ENSP00000373825:R330C;ENSP00000082259:R330C	ENSP00000082259:R330C	R	+	1	0	DNAH2	7581119	0.000000	0.05858	0.001000	0.08648	0.751000	0.42716	-0.878000	0.04192	-0.505000	0.06568	-0.844000	0.03045	CGT		0.403	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7640394	C	T	7640394	3	4	322	1	0	0	0	0	1	0	0	0	4602	884	31	1	1014	1	DNAH2	17	7640394	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09		7640394	73554816	34	17100											
TAOK1	57551	genome.wustl.edu	37	17	27837924	27837924	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:27837924A>G	ENST00000261716.3	+	15	2137	c.1618A>G	c.(1618-1620)Att>Gtt	p.I540V	TAOK1_ENST00000536202.1_Missense_Mutation_p.I540V	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	540					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TCAGCAACATATTCAGGCCCA	0.318																																																0			17											69	73	72					17																	27837924		2202	4299	6501	24862050	SO:0001583	missense	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1618A>G	17.37:g.27837924A>G	ENSP00000261716:p.Ile540Val		24862050	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743362	0.69418	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.51574	0.7;0.7	5.43	5.43	0.79202	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.78637	2.42	0.58432	D	0.999999	P;P;P	0.48998	0.609;0.918;0.506	B;P;B	0.49332	0.342;0.607;0.292	T	0.65352	-0.6189	10	0.54805	T	0.06	.	15.4858	0.75564	1.0:0.0:0.0:0.0	.	540;366;540	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	V	540	ENSP00000261716:I540V;ENSP00000438819:I540V	ENSP00000261716:I540V	I	+	1	0	TAOK1	24862050	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.334000	0.96470	2.068000	0.61886	0.383000	0.25322	ATT		0.318	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		G	27837924	A	G	27837924	3	3	322	1	0	0	0	0	1	0	0	0	15547	449	16	4	1672	4	TAOK1	17	27837924	Missense_Mutation	SNP	A	TCGA-29-1690-01A-01W-0633-09	20197530	27837924	53357286	35	17101											
MRM1	79154	genome.wustl.edu	37	17	34958598	34958598	+	IGR	SNP	G	G	C	rs78943308	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:34958598G>C	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Missense_Mutation_p.C120S|MRM1_ENST00000585770.1_5'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CAGGGTGTCTGCATGGAGGTG	0.682													G|||	355	0.0708866	0.0038	0.0533	5008	,	,		15695	0.1627		0.0785	False		,,,				2504	0.0716															0			17						G	SER/CYS	37,4343		0,37,2153	20	23	22		359	4.9	1	17	dbSNP_131	22	388,8156		8,372,3892	yes	missense	MRM1	NM_024864.3	112	8,409,6045	CC,CG,GG		4.5412,0.8447,3.2885	probably-damaging	120/354	34958598	425,12499	2190	4272	6462	32032711	SO:0001628	intergenic_variant	79922				CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958598G>C			32032711	B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	CCDS11315.2	166	0.076007326007326	3	0.006097560975609756	16	0.04419889502762431	87	0.1520979020979021	60	0.079155672823219	G	28.4	4.914261	0.92178	0.008447	0.045412	ENSG00000129282	ENST00000250156	T	0.30714	1.52	4.9	4.9	0.64082	RNA 2-O ribose methyltransferase, substrate binding (2);	0.000000	0.85682	D	0.000000	T	0.00384	0.0012	M	0.71581	2.175	0.80722	D	1	D	0.55385	0.971	P	0.62089	0.898	T	0.00045	-1.2216	10	0.87932	D	0	-16.6239	15.6051	0.76664	0.0:0.0:1.0:0.0	.	120	Q6IN84	MRM1_HUMAN	S	120	ENSP00000250156:C120S	ENSP00000250156:C120S	C	+	2	0	MRM1	32032711	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.332000	0.90024	2.423000	0.82170	0.555000	0.69702	TGC		0.682	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		C	34958598	G	C	34958598	1	2	322	0	1	0	0	0	0	0	0	0	9771	1319	46	3		3	MRM1	17	34958598	IGR	SNP	G	TCGA-29-1690-01A-01W-0633-09	7120674	34958598	46236612	36	17102											
LUC7L3	51747	genome.wustl.edu	37	17	48823168	48823168	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:48823168C>T	ENST00000505658.1	+	8	970	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	LUC7L3_ENST00000544170.1_Missense_Mutation_p.R185W|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R261W|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R261W			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	261	Arg/Ser-rich.|Glu-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						agaaaaagaacgggagagaga	0.398																																																0			17											24	26	26					17																	48823168		2194	4295	6489	46178167	SO:0001583	missense	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.781C>T	17.37:g.48823168C>T	ENSP00000425092:p.Arg261Trp		46178167	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495003	0.26774	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	T;T;T;T	0.36878	1.23;1.97;1.23;1.52	5.95	1.34	0.21922	.	0.071910	0.53938	D	0.000055	T	0.51346	0.1669	M	0.65975	2.015	0.47123	D	0.999325	D;D;D	0.69078	0.97;0.997;0.994	P;P;P	0.57548	0.758;0.823;0.758	T	0.60826	-0.7186	10	0.72032	D	0.01	-6.1546	15.8255	0.78703	0.6225:0.3775:0.0:0.0	.	185;261;261	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	W	261;261;261;185	ENSP00000425092:R261W;ENSP00000376919:R261W;ENSP00000240304:R261W;ENSP00000444253:R185W	ENSP00000240304:R261W	R	+	1	2	LUC7L3	46178167	1.000000	0.71417	0.940000	0.37924	0.163000	0.22366	1.399000	0.34566	0.383000	0.24910	-1.028000	0.02416	CGG		0.398	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		T	48823168	C	T	48823168	3	4	322	1	0	0	0	0	1	0	0	0	9084	527	19	1	811	1	LUC7L3	17	48823168	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09	13864570	48823168	32372042	37	17103											
PSMC5	5705	genome.wustl.edu	37	17	61908174	61908174	+	Silent	SNP	G	G	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:61908174G>A	ENST00000310144.6	+	7	866	c.558G>A	c.(556-558)gtG>gtA	p.V186V	PSMC5_ENST00000375812.4_Silent_p.V178V|PSMC5_ENST00000580864.1_Silent_p.V178V|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000581882.1_Silent_p.V178V	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	186	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGTAGGGAGTGCTGCTGTATG	0.537																																																0			17											86	75	79					17																	61908174		2203	4300	6503	59261906	SO:0001819	synonymous_variant	5705			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.558G>A	17.37:g.61908174G>A			59261906	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	CCDS11645.1																																																																																				0.537	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		A	61908174	G	A	61908174	2	1	322	1	0	0	0	0	0	0	0	1	12693	1306	46	2		2	PSMC5	17	61908174	Silent	SNP	G	TCGA-29-1690-01A-01W-0633-09	13085006	61908174	19287036	38	17104											
SPIRE1	56907	genome.wustl.edu	37	18	12512507	12512507	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr18:12512507C>A	ENST00000409402.4	-	5	1020	c.753G>T	c.(751-753)atG>atT	p.M251I	SPIRE1_ENST00000309836.5_Missense_Mutation_p.M54I|SPIRE1_ENST00000383356.2_Missense_Mutation_p.M92I|SPIRE1_ENST00000453447.2_Missense_Mutation_p.M131I|SPIRE1_ENST00000410092.3_Missense_Mutation_p.M251I	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CGCTCTTTTCCATTTCTTGAA	0.333																																																0			18											117	111	113					18																	12512507		2203	4299	6502	12502507	SO:0001583	missense	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.753G>T	18.37:g.12512507C>A	ENSP00000387266:p.Met251Ile		12502507		Missense_Mutation	SNP	ENST00000409402.4	37	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833133	0.91036	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356;ENST00000449797	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	L	0.50333	1.59	0.58432	D	0.99999	B;B;P	0.48089	0.055;0.356;0.905	B;B;P	0.45610	0.117;0.138;0.487	T	0.05321	-1.0892	10	0.39692	T	0.17	-16.1209	19.7532	0.96277	0.0:1.0:0.0:0.0	.	251;54;251	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	I	131;251;251;54;92;131	ENSP00000407050:M131I;ENSP00000387266:M251I;ENSP00000387226:M251I;ENSP00000309661:M54I;ENSP00000372847:M92I;ENSP00000401392:M131I	ENSP00000309661:M54I	M	-	3	0	SPIRE1	12502507	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.144000	0.58057	2.734000	0.93682	0.650000	0.86243	ATG		0.333	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		A	12512507	C	A	12512507	3	1	322	1	0	0	0	0	1	0	0	0	15073	594	21	3	1569	3	SPIRE1	18	12512507	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09		12512507	65564741	39	17105											
MCART2	147407	genome.wustl.edu	37	18	29339968	29339969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr18:29339968_29339969insC	ENST00000579441.2	-	1	655_656	c.656_657insG	c.(655-657)ggtfs	p.G219fs	SLC25A52_ENST00000269205.5_Frame_Shift_Ins_p.G229fs			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	219					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CACCCAATAGACCTCCACCGAT	0.455																																																0			18																																								27593967	SO:0001589	frameshift_variant	147407				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"Solute carriers"	23324	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 2"	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.657dupG	18.37:g.29339970_29339970dupC	ENSP00000462754:p.Gly219fs		27593966		Frame_Shift_Ins	INS	ENST00000579441.2	37																																																																																					0.455	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		C	29339969	-	C	29339968	7	5	322	1	0	1	1	0	0	0	0	0	9370	262	10	0	240	0	MCART2	18	29339968	Frame_Shift_Ins	INS	-	TCGA-29-1690-01A-01W-0633-09	16827461	29339968	48737280	40	17106											
OR2Z1	284383	genome.wustl.edu	37	19	8841588	8841588	+	Silent	SNP	C	C	G	rs147384704	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr19:8841588C>G	ENST00000324060.2	+	1	273	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCAGCCAGCTCTCCCTGTTTG	0.552													C|||	38	0.00758786	8e-04	0.0086	5008	,	,		21028	0.001		0.0229	False		,,,				2504	0.0072															0			19						C		37,4369	41.6+/-74.8	0,37,2166	148	131	137		198	0.6	0.9	19	dbSNP_134	137	244,8356	98.1+/-159.7	5,234,4061	no	coding-synonymous	OR2Z1	NM_001004699.1		5,271,6227	GG,GC,CC		2.8372,0.8398,2.1605		66/315	8841588	281,12725	2203	4300	6503	8702588	SO:0001819	synonymous_variant	284383			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.198C>G	19.37:g.8841588C>G			8702588	B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	CCDS32895.1																																																																																				0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			G	8841588	C	G	8841588	2	3	322	1	0	0	0	0	0	0	0	1	11036	900	32	3		3	OR2Z1	19	8841588	Silent	SNP	C	TCGA-29-1690-01A-01W-0633-09		8841588	50287395	41	17107											
NUP62	23636	genome.wustl.edu	37	19	50412217	50412217	+	Missense_Mutation	SNP	C	C	G	rs1062798	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr19:50412217C>G	ENST00000596217.1	-	2	2735	c.848G>C	c.(847-849)aGc>aCc	p.S283T	NUP62_ENST00000422090.2_Missense_Mutation_p.S283T|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.S283T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.S283T|NUP62_ENST00000352066.3_Missense_Mutation_p.S283T|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	283	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.		S -> T (in dbSNP:rs1062798). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:1915414}.		carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		gctgctgctgctggtggtggt	0.627													C|||	1584	0.316294	0.2383	0.379	5008	,	,		15105	0.3938		0.3827	False		,,,				2504	0.229															0			19						C	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	997,3405		118,761,1322	31	29	30		848,848,848,848,848,	0.8	0	19	dbSNP_86	30	3113,5481		577,1959,1761	yes	missense,missense,missense,missense,missense,intron	NUP62,IL4I1	NM_001193357.1,NM_012346.4,NM_016553.4,NM_153718.3,NM_153719.3,NM_172374.1	58,58,58,58,58,	695,2720,3083	GG,GC,CC		36.2229,22.6488,31.6251	benign,benign,benign,benign,benign,	283/523,283/523,283/523,283/523,283/523,	50412217	4110,8886	2201	4297	6498	55104029	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.848G>C	19.37:g.50412217C>G	ENSP00000471191:p.Ser283Thr		55104029	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	CCDS12788.1	763	0.34935897435897434	103	0.20934959349593496	134	0.3701657458563536	230	0.4020979020979021	296	0.39050131926121373	C	0.016	-1.533751	0.00951	0.226488	0.362229	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.36157	1.27;1.27;1.27	4.24	0.801	0.18679	Nucleoporin, NSP1-like, C-terminal (1);	1.330530	0.05670	N	0.588508	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45366	-0.9266	8	.	.	.	-2.1099	13.4683	0.61268	0.0:0.2452:0.7548:0.0	rs1062798;rs3203778;rs3745497;rs4009638;rs5828420;rs17844993;rs17857752;rs52814004	283	P37198	NUP62_HUMAN	T	283	ENSP00000305503:S283T;ENSP00000407331:S283T;ENSP00000387991:S283T	.	S	-	2	0	NUP62	55104029	0.050000	0.20438	0.000000	0.03702	0.004000	0.04260	1.221000	0.32503	0.190000	0.20209	-1.162000	0.01777	AGC		0.627	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		G	50412217	C	G	50412217	3	3	322	1	0	0	0	0	1	0	0	0	10768	797	28	3	724	3	NUP62	19	50412217	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09	41570629	50412217	8716766	42	17108											
NLRP4	147945	genome.wustl.edu	37	19	56372807	56372807	+	Missense_Mutation	SNP	G	G	A	rs143589259	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr19:56372807G>A	ENST00000301295.6	+	4	2334	c.1912G>A	c.(1912-1914)Ggg>Agg	p.G638R	NLRP4_ENST00000346986.5_Missense_Mutation_p.G638R|NLRP4_ENST00000587891.1_Missense_Mutation_p.G563R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	638					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CACCACCAGCGGGCACCTCAG	0.577													G|||	12	0.00239617	0.0015	0.0014	5008	,	,		20025	0.004		0.004	False		,,,				2504	0.001															0			19						G	ARG/GLY	5,4401	9.9+/-24.2	0,5,2198	109	89	96		1912	-3.3	0	19	dbSNP_134	96	53,8547	33.3+/-86.6	0,53,4247	yes	missense	NLRP4	NM_134444.4	125	0,58,6445	AA,AG,GG		0.6163,0.1135,0.4459	benign	638/995	56372807	58,12948	2203	4300	6503	61064619	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1912G>A	19.37:g.56372807G>A	ENSP00000301295:p.Gly638Arg		61064619	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	7	0.003205128205128205	2	0.0040650406504065045	1	0.0027624309392265192	2	0.0034965034965034965	2	0.002638522427440633	G	10.95	1.495846	0.26774	0.001135	0.006163	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.87809	-2.3;-2.3	4.49	-3.32	0.04973	.	.	.	.	.	T	0.62551	0.2437	N	0.08118	0	0.09310	N	1	B;D;P	0.55172	0.039;0.97;0.885	B;P;B	0.44673	0.019;0.457;0.137	T	0.63752	-0.6566	9	0.20046	T	0.44	.	4.5942	0.12322	0.3545:0.2922:0.3532:0.0	.	638;563;638	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	R	638	ENSP00000301295:G638R;ENSP00000344787:G638R	ENSP00000301295:G638R	G	+	1	0	NLRP4	61064619	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.797000	0.01749	-0.581000	0.05937	-0.136000	0.14681	GGG		0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56372807	G	A	56372807	3	1	322	1	0	0	0	0	1	0	0	0	10479	1116	39	1	1922	1	NLRP4	19	56372807	Missense_Mutation	SNP	G	TCGA-29-1690-01A-01W-0633-09	5960590	56372807	2756176	43	17109											
DEFB118	117285	genome.wustl.edu	37	20	29960791	29960791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr20:29960791C>T	ENST00000253381.2	+	2	223	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	64					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCACAGGCGAGTTCCTGC	0.438																																																0			20											152	134	140					20																	29960791		2203	4300	6503	29424452	SO:0001587	stop_gained	117285			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.190C>T	20.37:g.29960791C>T	ENSP00000253381:p.Arg64*		29424452	Q17RC4|Q8N691|Q9NUH0	Nonsense_Mutation	SNP	ENST00000253381.2	37	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	9.140	1.013563	0.19277	.	.	ENSG00000131068	ENST00000253381	.	.	.	3.43	-6.22	0.02058	.	10.118000	0.00357	N	0.000026	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5569	1.8142	0.03097	0.1278:0.2744:0.3591:0.2388	.	.	.	.	X	64	.	ENSP00000253381:R64X	R	+	1	2	DEFB118	29424452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.214000	0.09292	-1.399000	0.02063	-0.181000	0.13052	CGA		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		T	29960791	C	T	29960791	4	4	322	1	0	0	0	0	0	1	0	0	4406	760	27	1	196	1	DEFB118	20	29960791	Nonsense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09		29960791	33064729	44	17110											
ASXL1	171023	genome.wustl.edu	37	20	31024450	31024450	+	Missense_Mutation	SNP	C	C	T	rs148144203		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr20:31024450C>T	ENST00000375687.4	+	13	4359	c.3935C>T	c.(3934-3936)gCa>gTa	p.A1312V	ASXL1_ENST00000306058.5_Missense_Mutation_p.A1307V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1312					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A1312V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTGGCTGCAACCCTTCAG	0.572			"F, N, Mis"		"MDS, CMML"								C|||	1	0.000199681	0	0.0014	5008	,	,		18085	0		0	False		,,,				2504	0						Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20						C	VAL/ALA	0,4406		0,0,2203	52	52	52		3935	3.6	0.1	20	dbSNP_134	52	14,8586	9.8+/-36.6	0,14,4286	yes	missense	ASXL1	NM_015338.5	64	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	benign	1312/1542	31024450	14,12992	2203	4300	6503	30488111	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3935C>T	20.37:g.31024450C>T	ENSP00000364839:p.Ala1312Val		30488111	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	3.458	-0.110577	0.06924	0.0	0.001628	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.13307	2.6;2.6	4.56	3.62	0.41486	.	0.311519	0.34959	N	0.003551	T	0.09774	0.0240	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.024;0.006	B;B	0.12156	0.007;0.007	T	0.18935	-1.0321	10	0.41790	T	0.15	-0.9415	8.4412	0.32816	0.0:0.8058:0.0:0.1942	.	1307;1312	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	V	1312;1312;1312;1233;1307	ENSP00000364839:A1312V;ENSP00000305119:A1307V	ENSP00000305119:A1307V	A	+	2	0	ASXL1	30488111	0.002000	0.14202	0.084000	0.20598	0.960000	0.62799	1.375000	0.34295	1.531000	0.49152	0.561000	0.74099	GCA		0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		T	31024450	C	T	31024450	3	4	322	1	0	0	0	0	1	0	0	0	1066	710	25	2	3991	2	ASXL1	20	31024450	Missense_Mutation	SNP	C	TCGA-29-1690-01A-01W-0633-09	1063659	31024450	32001070	45	17111											
NAP1L3	4675	genome.wustl.edu	37	X	92927381	92927381	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chrX:92927381G>A	ENST00000373079.3	-	1	1186	c.923C>T	c.(922-924)cCt>cTt	p.P308L	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.P301L	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	308					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AATGCCTTTAGGGTCTTCTCT	0.428																																																0			X											66	62	63					X																	92927381		2203	4300	6503	92814037	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.923C>T	X.37:g.92927381G>A	ENSP00000362171:p.Pro308Leu		92814037	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912020	0.33721	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.26223	1.75	3.51	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.45352	1.415	0.41652	D	0.989139	D	0.65815	0.995	D	0.64595	0.927	T	0.05937	-1.0855	10	0.42905	T	0.14	-6.9614	9.6622	0.39962	0.0:0.0:1.0:0.0	.	308	Q99457	NP1L3_HUMAN	L	308;301	ENSP00000362171:P308L	ENSP00000362171:P308L	P	-	2	0	NAP1L3	92814037	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	4.860000	0.62961	2.026000	0.59711	0.529000	0.55759	CCT		0.428	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		A	92927381	G	A	92927381	3	1	322	1	0	0	0	0	1	0	0	0	10158	1000	35	2	601	2	NAP1L3	23	92927381	Missense_Mutation	SNP	G	TCGA-29-1690-01A-01W-0633-09		92927381	62343179	46	17112											
MASP2	10747	genome.wustl.edu	37	1	11106666	11106666	+	Missense_Mutation	SNP	T	T	C	rs72550870	byFrequency	TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:11106666T>C	ENST00000400897.3	-	3	374	c.359A>G	c.(358-360)gAc>gGc	p.D120G	MASP2_ENST00000400898.3_Missense_Mutation_p.D120G	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	120	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		D -> G (in MASPD; found in a patient suffering from frequent infections and chronic inflammatory disease; strongly decreases affinity for MBL2 and FCN2; dbSNP:rs72550870). {ECO:0000269|PubMed:12904520, ECO:0000269|PubMed:16029433, ECO:0000269|PubMed:17252003}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTTGGAGTAGTCGGAGCGGAA	0.632													T|||	60	0.0119808	8e-04	0.0231	5008	,	,		18982	0		0.0388	False		,,,				2504	0.0041				GBM(35;611 746 20780 22741 36496)											0			1	GRCh37	CM032009	MASP2	M	rs72550870	T	GLY/ASP,GLY/ASP	26,4380	32.6+/-62.9	0,26,2177	55	46	49	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	359,359	4.8	1	1	dbSNP_130	49	248,8352	96.3+/-158.1	7,234,4059	yes	missense,missense	MASP2	NM_006610.3,NM_139208.2	94,94	7,260,6236	CC,CT,TT		2.8837,0.5901,2.1067	probably-damaging,probably-damaging	120/687,120/186	11106666	274,12732	2203	4300	6503	11029253	SO:0001583	missense	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.359A>G	1.37:g.11106666T>C	ENSP00000383690:p.Asp120Gly		11029253	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	CCDS123.1	38	0.0173992673992674	0	0.0	9	0.024861878453038673	0	0.0	29	0.03825857519788918	T	24.6	4.551799	0.86127	0.005901	0.028837	ENSG00000009724	ENST00000400897;ENST00000400898	T;T	0.39056	1.1;1.1	4.77	4.77	0.60923	CUB (5);	0.058181	0.64402	D	0.000004	T	0.38374	0.1038	M	0.91249	3.19	0.80722	A	1	D;D	0.67145	0.996;0.984	D;D	0.71184	0.954;0.972	T	0.74163	-0.3754	9	0.87932	D	0	.	13.2718	0.60165	0.0:0.0:0.0:1.0	.	120;120	O00187-2;O00187	.;MASP2_HUMAN	G	120	ENSP00000383690:D120G;ENSP00000383691:D120G	ENSP00000383690:D120G	D	-	2	0	MASP2	11029253	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	7.628000	0.83189	1.772000	0.52199	0.460000	0.39030	GAC		0.632	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		C	11106666	T	C	11106666	3	2	323	1	0	0	0	0	1	0	0	0	9323	1667	58	4	1755	4	MASP2	1	11106666	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09		11106666	238143955	1	17113											
EXOSC10	5394	genome.wustl.edu	37	1	11129695	11129695	+	Silent	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:11129695C>T	ENST00000376936.4	-	22	2458	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Silent_p.K778K|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	803					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTTTGGCTTCTTGGAAATTT	0.478																																					Colon(179;105 1987 14326 27364 29542)											0			1											422	436	431					1																	11129695		2203	4300	6503	11052282	SO:0001819	synonymous_variant	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2409G>A	1.37:g.11129695C>T			11052282	B1AKQ0|B1AKQ1|Q15158	Silent	SNP	ENST00000376936.4	37	CCDS30584.1																																																																																				0.478	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		T	11129695	C	T	11129695	2	4	323	1	0	0	0	0	0	0	0	1	5314	912	32	2		2	EXOSC10	1	11129695	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	23029	11129695	238120926	2	17114											
MTOR	2475	genome.wustl.edu	37	1	11294270	11294270	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:11294270G>C	ENST00000361445.4	-	14	2337	c.2261C>G	c.(2260-2262)gCc>gGc	p.A754G		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	754					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAGCATGCGGGCACTCTGCTC	0.512																																																0			1											124	129	127					1																	11294270		2203	4300	6503	11216857	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2261C>G	1.37:g.11294270G>C	ENSP00000354558:p.Ala754Gly		11216857	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324621	0.95708	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68331	-0.32	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	M	0.93678	3.445	0.80722	D	1	D	0.56968	0.978	P	0.50617	0.646	D	0.87353	0.2339	10	0.87932	D	0	.	19.8344	0.96650	0.0:0.0:1.0:0.0	.	754	P42345	MTOR_HUMAN	G	754	ENSP00000354558:A754G	ENSP00000354558:A754G	A	-	2	0	MTOR	11216857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.696000	0.92011	0.561000	0.74099	GCC		0.512	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11294270	G	C	11294270	3	2	323	1	0	0	0	0	1	0	0	0	9954	1203	42	3	5568	3	MTOR	1	11294270	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	164575	11294270	237956351	3	17115											
IGSF21	84966	genome.wustl.edu	37	1	18692038	18692038	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:18692038C>T	ENST00000251296.1	+	6	1245	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	288						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CTACTTCCTGCGCCACAGCCG	0.627																																																0			1											104	98	100					1																	18692038		2203	4300	6503	18564625	SO:0001583	missense	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.862C>T	1.37:g.18692038C>T	ENSP00000251296:p.Arg288Cys		18564625	Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.19|19.19	3.779041|3.779041	0.70107|0.70107	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000412684|ENST00000251296	.|T	.|0.57107	.|0.42	4.28|4.28	3.36|3.36	0.38483|0.38483	.|.	.|0.193098	.|0.53938	.|D	.|0.000057	T|T	0.46151|0.46151	0.1378|0.1378	N|N	0.19112|0.19112	0.55|0.55	0.50039|0.50039	D|D	0.999843|0.999843	.|D	.|0.76494	.|0.999	.|P	.|0.51895	.|0.683	T|T	0.44143|0.44143	-0.9347|-0.9347	5|10	.|0.42905	.|T	.|0.14	-17.0717|-17.0717	12.6356|12.6356	0.56681|0.56681	0.1669:0.8331:0.0:0.0|0.1669:0.8331:0.0:0.0	.|.	.|288	.|Q96ID5	.|IGS21_HUMAN	V|C	240|288	.|ENSP00000251296:R288C	.|ENSP00000251296:R288C	A|R	+|+	2|1	0|0	IGSF21|IGSF21	18564625|18564625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.343000|3.343000	0.52167|0.52167	1.148000|1.148000	0.42385|0.42385	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.627	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		T	18692038	C	T	18692038	3	4	323	1	0	0	0	0	1	0	0	0	7599	768	27	1	884	1	IGSF21	1	18692038	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	7397768	18692038	230558583	4	17116											
EIF4G3	8672	genome.wustl.edu	37	1	21191172	21191172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:21191172C>A	ENST00000264211.8	-	16	2829	c.2635G>T	c.(2635-2637)Gaa>Taa	p.E879*	EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.E369*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.E879*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.E599*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.E483*|EIF4G3_ENST00000602326.1_Nonsense_Mutation_p.E885*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.E885*	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	879	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTGGCTTCTTCCAGTTCATCA	0.428																																																0			1											111	103	105					1																	21191172		2203	4300	6503	21063759	SO:0001587	stop_gained	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2635G>T	1.37:g.21191172C>A	ENSP00000264211:p.Glu879*		21063759	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Nonsense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	46	12.873233	0.99702	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9817	19.2046	0.93724	0.0:1.0:0.0:0.0	.	.	.	.	X	879;1075;879;599;369;885;483	.	ENSP00000264211:E879X	E	-	1	0	EIF4G3	21063759	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.026000	0.70873	2.548000	0.85928	0.585000	0.79938	GAA		0.428	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		A	21191172	C	A	21191172	4	1	323	1	0	0	0	0	0	1	0	0	5038	864	30	3	2186	3	EIF4G3	1	21191172	Nonsense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	2499134	21191172	228059449	5	17117											
GALE	11313	genome.wustl.edu	37	1	24124334	24124334	+	IGR	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:24124334G>T	ENST00000374514.3	+	0	1810				GALE_ENST00000470383.1_5'Flank|GALE_ENST00000374497.3_Missense_Mutation_p.L127M	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CTGAACACCAGGTTCTTCACC	0.592																																																0			1											64	62	63					1																	24124334		2203	4300	6503	23996921	SO:0001628	intergenic_variant	2582			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124334G>T			23996921	Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	CCDS241.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985756	0.53934	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000429356;ENST00000418277;ENST00000425913;ENST00000445705	D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59	4.59	2.66	0.31614	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.170210	0.41500	D	0.000862	D	0.91064	0.7188	M	0.79343	2.45	0.43569	D	0.995893	P;D;P;P	0.56287	0.728;0.975;0.824;0.824	P;P;P;P	0.62184	0.527;0.899;0.631;0.631	D	0.88251	0.2916	10	0.39692	T	0.17	-10.04	3.5659	0.07900	0.2565:0.0:0.4652:0.2783	.	53;63;127;127	B3KQ39;E9PH43;Q38G75;Q14376	.;.;.;GALE_HUMAN	M	63;127;63;63;127;127	ENSP00000363621:L127M;ENSP00000398585:L63M;ENSP00000414719:L63M;ENSP00000393359:L127M;ENSP00000398257:L127M	ENSP00000363621:L127M	L	-	1	2	GALE	23996921	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.129000	0.31381	1.157000	0.42530	0.561000	0.74099	CTG		0.592	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			T	24124334	G	T	24124334	1	4	323	0	1	0	0	0	0	0	0	0	6202	991	35	3		3	GALE	1	24124334	IGR	SNP	G	TCGA-29-1691-01A-01W-0633-09	2933162	24124334	225126287	6	17118											
ZSCAN20	7579	genome.wustl.edu	37	1	33960898	33960898	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:33960898A>G	ENST00000361328.3	+	8	3107	c.2954A>G	c.(2953-2955)aAg>aGg	p.K985R		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	985					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACGGGAGAGAAGCCGTATAAG	0.473																																																0			1											66	74	71					1																	33960898		2117	4259	6376	33733485	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2954A>G	1.37:g.33960898A>G	ENSP00000355053:p.Lys985Arg		33733485	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.807230	0.70797	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.76	4.63	0.57726	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.45994	0.1370	N	0.04132	-0.27	0.38728	D	0.953608	B;P	0.51147	0.425;0.942	B;P	0.62435	0.169;0.902	T	0.53975	-0.8362	9	0.42905	T	0.14	-20.4874	10.1002	0.42499	0.9208:0.0:0.0792:0.0	.	984;985	P17040-3;P17040	.;ZSC20_HUMAN	R	985;919;919	.	ENSP00000324450:K985R	K	+	2	0	ZSCAN20	33733485	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.549000	0.60726	0.992000	0.38840	0.533000	0.62120	AAG		0.473	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		G	33960898	A	G	33960898	3	3	323	1	0	0	0	0	1	0	0	0	18232	72	3	4	2980	4	ZSCAN20	1	33960898	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	9836564	33960898	215289723	7	17119											
DNALI1	79753	genome.wustl.edu	37	1	38022549	38022549	+	5'Flank	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:38022549C>T	ENST00000296215.6	-	0	0				SNIP1_ENST00000468040.1_5'Flank|DNALI1_ENST00000541606.1_5'Flank|DNALI1_ENST00000296218.7_Missense_Mutation_p.A7V	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GCAAACAAGGCCCACACTGGA	0.657																																																0			1											62	56	58					1																	38022549		2203	4300	6503	37795136	SO:0001631	upstream_gene_variant	7802				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225		1.37:g.38022549C>T	Exception_encountered		37795136	Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397365	0.25205	.	.	ENSG00000163879	ENST00000296218	T	0.42900	0.96	4.77	3.85	0.44370	.	0.460041	0.17884	N	0.158765	T	0.53965	0.1829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55724	-0.8096	7	0.54805	T	0.06	0.2486	12.0089	0.53276	0.1734:0.8266:0.0:0.0	.	.	.	.	V	7	ENSP00000296218:A7V	ENSP00000296218:A7V	A	+	2	0	DNALI1	37795136	0.450000	0.25697	0.867000	0.34043	0.544000	0.35116	0.626000	0.24492	1.365000	0.46057	0.491000	0.48974	GCC		0.657	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		T	38022549	C	T	38022549	1	4	323	0	1	0	0	0	0	0	0	0	4659	739	26	2		2	DNALI1	1	38022549	5'Flank	SNP	C	TCGA-29-1691-01A-01W-0633-09	4061651	38022549	211228072	8	17120											
NASP	4678	genome.wustl.edu	37	1	46083181	46083181	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:46083181C>T	ENST00000350030.3	+	14	2291	c.2204C>T	c.(2203-2205)gCc>gTc	p.A735V	NASP_ENST00000402363.3_Missense_Mutation_p.A737V|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000372052.4_Missense_Mutation_p.A369V|NASP_ENST00000537798.1_Missense_Mutation_p.A671V|NASP_ENST00000351223.3_Missense_Mutation_p.A396V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	735					blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GCAAAGAAAGCCAAACAAGAG	0.468																																																0			1											98	91	93					1																	46083181		2203	4300	6503	45855768	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.2204C>T	1.37:g.46083181C>T	ENSP00000255120:p.Ala735Val		45855768	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696259|3.696259	0.68386|0.68386	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000372052;ENST00000351223|ENST00000531612	T;T;T;T;T|.	0.52526|.	0.71;0.71;0.66;0.74;0.71|.	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	0.339265|.	0.35407|.	N|.	0.003233|.	T|T	0.55705|0.55705	0.1937|0.1937	L|L	0.27053|0.27053	0.805|0.805	0.37300|0.37300	D|D	0.908642|0.908642	D;B;P;P|.	0.69078|.	0.997;0.158;0.495;0.629|.	P;B;B;B|.	0.61397|.	0.888;0.046;0.132;0.259|.	T|T	0.57201|0.57201	-0.7852|-0.7852	10|5	0.87932|.	D|.	0|.	-0.559|-0.559	17.8837|17.8837	0.88848|0.88848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	671;396;735;737|.	F5H3J2;Q5T626;P49321;P49321-3|.	.;.;NASP_HUMAN;.|.	V|S	671;737;635;735;369;396|235	ENSP00000438871:A671V;ENSP00000384529:A737V;ENSP00000255120:A735V;ENSP00000361122:A369V;ENSP00000255121:A396V|.	ENSP00000345532:A635V|.	A|P	+|+	2|1	0|0	NASP|NASP	45855768|45855768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.784000|1.784000	0.38674|0.38674	2.516000|2.516000	0.84829|0.84829	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.468	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		T	46083181	C	T	46083181	3	4	323	1	0	0	0	0	1	0	0	0	10172	739	26	2	2335	2	NASP	1	46083181	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	8060632	46083181	203167440	9	17121											
IPP	3652	genome.wustl.edu	37	1	46212055	46212055	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:46212055G>C	ENST00000396478.3	-	2	131	c.29C>G	c.(28-30)gCt>gGt	p.A10G		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	10						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AGGACTATCAGCAGCCTTGGG	0.403																																																0			1											99	92	95					1																	46212055		2203	4300	6503	45984642	SO:0001583	missense	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.29C>G	1.37:g.46212055G>C	ENSP00000379739:p.Ala10Gly		45984642	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	8.787	0.929581	0.18131	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.74315	-0.64;-0.83	5.5	-7.47	0.01365	BTB/POZ fold (1);	1.510910	0.03531	N	0.222470	T	0.51176	0.1659	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37753	-0.9692	10	0.39692	T	0.17	.	5.9938	0.19483	0.0795:0.3202:0.4209:0.1794	.	10;10	Q9Y573;A2A6V3	IPP_HUMAN;.	G	10	ENSP00000353024:A10G;ENSP00000379739:A10G	ENSP00000353024:A10G	A	-	2	0	IPP	45984642	0.003000	0.15002	0.021000	0.16686	0.131000	0.20780	0.068000	0.14531	-1.103000	0.03019	-1.053000	0.02334	GCT		0.403	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		C	46212055	G	C	46212055	3	2	323	1	0	0	0	0	1	0	0	0	7800	971	34	3	1859	3	IPP	1	46212055	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	128874	46212055	203038566	10	17122											
MAST2	23139	genome.wustl.edu	37	1	46489462	46489462	+	Silent	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:46489462G>T	ENST00000361297.2	+	15	1873	c.1590G>T	c.(1588-1590)cgG>cgT	p.R530R	MAST2_ENST00000372009.2_Silent_p.R460R	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TTCTGGTGCGGCACAAGTCCA	0.572																																																0			1											63	66	65					1																	46489462		2203	4300	6503	46262049	SO:0001819	synonymous_variant	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1590G>T	1.37:g.46489462G>T			46262049		Silent	SNP	ENST00000361297.2	37	CCDS41326.1																																																																																				0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		T	46489462	G	T	46489462	2	4	323	1	0	0	0	0	0	0	0	1	9325	1190	42	3		3	MAST2	1	46489462	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09	277407	46489462	202761159	11	17123											
RAD54L	8438	genome.wustl.edu	37	1	46726971	46726971	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:46726971C>T	ENST00000371975.4	+	8	1479	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.P269S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	269	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGTGTCTTCTCCCATCCTCAT	0.423								Direct reversal of damage;Homologous recombination																																								0			1											127	110	116					1																	46726971		2203	4300	6503	46499558	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.805C>T	1.37:g.46726971C>T	ENSP00000361043:p.Pro269Ser		46499558	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926332	0.73327	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93189	-3.18;-3.18	5.71	5.71	0.89125	DEAD-like helicase (2);SNF2-related (1);	0.050938	0.85682	D	0.000000	D	0.95739	0.8614	M	0.67953	2.075	0.80722	D	1	B;D	0.67145	0.109;0.996	B;D	0.74023	0.263;0.982	D	0.94009	0.7282	10	0.30078	T	0.28	-15.2134	15.6991	0.77528	0.0:0.8639:0.1361:0.0	.	89;269	G3V1N0;Q92698	.;RAD54_HUMAN	S	269;269;89	ENSP00000396113:P269S;ENSP00000361043:P269S	ENSP00000361043:P269S	P	+	1	0	RAD54L	46499558	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCC		0.423	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		T	46726971	C	T	46726971	3	4	323	1	0	0	0	0	1	0	0	0	12996	855	30	2	835	2	RAD54L	1	46726971	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	237509	46726971	202523650	12	17124											
WDR63	126820	genome.wustl.edu	37	1	85561635	85561635	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:85561635G>A	ENST00000294664.6	+	11	1375	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	WDR63_ENST00000370596.1_Missense_Mutation_p.D360N|WDR63_ENST00000326813.8_Missense_Mutation_p.D360N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	399										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GAGCCCAGATGACATCTTCTG	0.368																																																0			1											159	155	156					1																	85561635		2203	4300	6503	85334223	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1195G>A	1.37:g.85561635G>A	ENSP00000294664:p.Asp399Asn		85334223	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343842	0.95807	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.46063	0.88;0.88;0.88	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.72833	-0.4173	10	0.62326	D	0.03	-17.5067	19.728	0.96172	0.0:0.0:1.0:0.0	.	360;399	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	N	360;360;399	ENSP00000359628:D360N;ENSP00000317463:D360N;ENSP00000294664:D399N	ENSP00000294664:D399N	D	+	1	0	WDR63	85334223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.769000	0.91742	2.662000	0.90505	0.585000	0.79938	GAC		0.368	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		A	85561635	G	A	85561635	3	1	323	1	0	0	0	0	1	0	0	0	17314	1290	45	2	1233	2	WDR63	1	85561635	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	38834664	85561635	163688986	13	17125											
KCNC4	3749	genome.wustl.edu	37	1	110766384	110766384	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:110766384A>G	ENST00000369787.3	+	2	1504	c.1477A>G	c.(1477-1479)Aag>Gag	p.K493E	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.K493E|KCNC4_ENST00000438661.2_Missense_Mutation_p.K493E	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	493					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|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)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAGAAACGGAAGAAGCACGT	0.617																																																0			1											93	93	93					1																	110766384		2203	4300	6503	110567907	SO:0001583	missense	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1477A>G	1.37:g.110766384A>G	ENSP00000358802:p.Lys493Glu		110567907	Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	CCDS821.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867711	0.51588	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97352	-4.35;-4.35;-4.35	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	M	0.64997	1.995	0.52099	D	0.999944	B;B;D	0.54047	0.112;0.037;0.964	B;B;P	0.61477	0.082;0.054;0.889	D	0.94750	0.7926	10	0.10636	T	0.68	.	10.8685	0.46869	0.9226:0.0:0.0774:0.0	.	493;493;493	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	E	493	ENSP00000358802:K493E;ENSP00000388029:K493E;ENSP00000393655:K493E	ENSP00000358802:K493E	K	+	1	0	KCNC4	110567907	1.000000	0.71417	0.886000	0.34754	0.962000	0.63368	7.528000	0.81941	1.960000	0.56953	0.379000	0.24179	AAG		0.617	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		G	110766384	A	G	110766384	3	3	323	1	0	0	0	0	1	0	0	0	8017	247	9	4	1483	4	KCNC4	1	110766384	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	25204749	110766384	138484237	14	17126											
WDR3	10885	genome.wustl.edu	37	1	118484436	118484436	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:118484436G>A	ENST00000349139.5	+	9	1002	c.955G>A	c.(955-957)Gat>Aat	p.D319N		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	319						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GAAGAAAATGGATAAGAAGAT	0.348																																																0			1											81	79	80					1																	118484436		2203	4298	6501	118285959	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.955G>A	1.37:g.118484436G>A	ENSP00000308179:p.Asp319Asn		118285959		Missense_Mutation	SNP	ENST00000349139.5	37	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474382	0.43942	.	.	ENSG00000065183	ENST00000349139	T	0.51574	0.7	5.18	5.18	0.71444	WD40-repeat-containing domain (1);	0.205394	0.50627	D	0.000110	T	0.24044	0.0582	L	0.43152	1.355	0.80722	D	1	P	0.34462	0.454	B	0.23275	0.045	T	0.08027	-1.0742	10	0.18276	T	0.48	-20.7796	19.0357	0.92976	0.0:0.0:1.0:0.0	.	319	Q9UNX4	WDR3_HUMAN	N	319	ENSP00000308179:D319N	ENSP00000308179:D319N	D	+	1	0	WDR3	118285959	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.994000	0.70623	2.559000	0.86315	0.650000	0.86243	GAT		0.348	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		A	118484436	G	A	118484436	3	1	323	1	0	0	0	0	1	0	0	0	17285	1174	41	2	985	2	WDR3	1	118484436	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	7718052	118484436	130766185	15	17127											
ADAM30	11085	genome.wustl.edu	37	1	120437780	120437780	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:120437780C>T	ENST00000369400.1	-	1	1338	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	394					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TAACCTAGTCCTGGGATATTA	0.418																																																0			1											126	131	129					1																	120437780		2203	4300	6503	120239303	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1180G>A	1.37:g.120437780C>T	ENSP00000358407:p.Gly394Arg		120239303	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	7.798	0.713000	0.15306	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01178	5.22	4.88	2.94	0.34122	Metallopeptidase, catalytic domain (1);	0.638340	0.13710	N	0.368162	T	0.00384	0.0012	L	0.37561	1.115	0.09310	N	1	B	0.16396	0.017	B	0.17098	0.017	T	0.43523	-0.9386	10	0.14656	T	0.56	.	7.0008	0.24809	0.0:0.7846:0.0:0.2154	.	394	Q9UKF2	ADA30_HUMAN	R	394	ENSP00000358407:G394R	ENSP00000358407:G394R	G	-	1	0	ADAM30	120239303	0.115000	0.22152	0.024000	0.17045	0.080000	0.17528	0.347000	0.20014	1.241000	0.43820	0.563000	0.77884	GGA		0.418	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		T	120437780	C	T	120437780	3	4	323	1	0	0	0	0	1	0	0	0	248	690	24	2	1196	2	ADAM30	1	120437780	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	1953344	120437780	128812841	16	17128											
ANKRD34A	284615	genome.wustl.edu	37	1	145474033	145474033	+	Silent	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:145474033A>G	ENST00000323397.4	+	4	1998	c.705A>G	c.(703-705)ccA>ccG	p.P235P	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	235	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAAACCACCACGCCATCCCC	0.622																																																0			1											71	82	78					1																	145474033		2203	4300	6503	144185390	SO:0001819	synonymous_variant	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.705A>G	1.37:g.145474033A>G			144185390	B3KSU3	Silent	SNP	ENST00000323397.4	37	CCDS30829.1																																																																																				0.622	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			G	145474033	A	G	145474033	2	3	323	1	0	0	0	0	0	0	0	1	662	146	6	4		4	ANKRD34A	1	145474033	Silent	SNP	A	TCGA-29-1691-01A-01W-0633-09	25036253	145474033	103776588	17	17129											
ITGA10	8515	genome.wustl.edu	37	1	145530984	145530984	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:145530984delA	ENST00000369304.3	+	7	891	c.716delA	c.(715-717)gagfs	p.E239fs	ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Frame_Shift_Del_p.E96fs|ITGA10_ENST00000538811.1_Frame_Shift_Del_p.E108fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	239	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTCGGCGGGAGGGACGAGAA	0.532																																																0			1											120	104	110					1																	145530984		2203	4300	6503	144242341	SO:0001589	frameshift_variant	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.716delA	1.37:g.145530984delA	ENSP00000358310:p.Glu239fs		144242341	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Del	DEL	ENST00000369304.3	37	CCDS918.1																																																																																				0.532	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		-	145530984	A	-	145530984	7	5	323	1	0	1	0	1	0	0	0	0	7873	304	11	0	742	0	ITGA10	1	145530984	Frame_Shift_Del	DEL	A	TCGA-29-1691-01A-01W-0633-09	56951	145530984	103719637	18	17130											
PRPF3	9129	genome.wustl.edu	37	1	150316937	150316937	+	Silent	SNP	A	A	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:150316937A>T	ENST00000324862.6	+	12	1719	c.1554A>T	c.(1552-1554)cgA>cgT	p.R518R	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.R469R	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	518					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACGCTGCCCGAAAACTCACAG	0.463																																					Ovarian(168;1070 2670 5178 20729)											0			1											104	110	108					1																	150316937		2203	4300	6503	148583561	SO:0001819	synonymous_variant	9129			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1554A>T	1.37:g.150316937A>T			148583561	B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	CCDS951.1																																																																																				0.463	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		T	150316937	A	T	150316937	2	4	323	1	0	0	0	0	0	0	0	1	12568	233	9	5		5	PRPF3	1	150316937	Silent	SNP	A	TCGA-29-1691-01A-01W-0633-09	4785953	150316937	98933684	19	17131											
PI4KB	5298	genome.wustl.edu	37	1	151288881	151288881	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:151288881C>T	ENST00000368873.1	-	2	245	c.77G>A	c.(76-78)gGg>gAg	p.G26E	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Missense_Mutation_p.G26E|PI4KB_ENST00000271657.5_Missense_Mutation_p.G38E|PI4KB_ENST00000368875.2_Missense_Mutation_p.G38E|PI4KB_ENST00000368872.1_Missense_Mutation_p.G26E			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	26					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGGACCCCCCATTATTCCC	0.587																																					Colon(154;765 1838 9854 28443 37492)											0			1											39	39	39					1																	151288881		2203	4300	6503	149555505	SO:0001583	missense	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.77G>A	1.37:g.151288881C>T	ENSP00000357867:p.Gly26Glu		149555505	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	C	15.39	2.819830	0.50633	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.53	5.53	0.82687	.	0.425300	0.26383	N	0.024692	T	0.19886	0.0478	N	0.14661	0.345	0.40508	D	0.980711	P;B;B	0.47350	0.894;0.137;0.121	P;B;B	0.45506	0.483;0.007;0.016	T	0.03514	-1.1029	10	0.62326	D	0.03	-22.6333	17.004	0.86388	0.0:1.0:0.0:0.0	.	26;26;26	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	E	26;38;38;26;26;26	ENSP00000357868:G26E;ENSP00000357869:G38E;ENSP00000271657:G38E;ENSP00000357867:G26E;ENSP00000357866:G26E;ENSP00000394719:G26E	ENSP00000271657:G38E	G	-	2	0	PI4KB	149555505	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.720000	0.54933	2.882000	0.98803	0.655000	0.94253	GGG		0.587	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		T	151288881	C	T	151288881	3	4	323	1	0	0	0	0	1	0	0	0	11874	623	22	2	2417	2	PI4KB	1	151288881	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	971944	151288881	97961740	20	17132											
RPTN	126638	genome.wustl.edu	37	1	152128919	152128919	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:152128919G>T	ENST00000316073.3	-	3	720	c.656C>A	c.(655-657)gCt>gAt	p.A219D		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	219	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGCCATTTAGCCTGGCCACT	0.413																																																0			1											239	204	215					1																	152128919		1568	3582	5150	150395543	SO:0001583	missense	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.656C>A	1.37:g.152128919G>T	ENSP00000317895:p.Ala219Asp		150395543	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	8.398	0.841394	0.16963	.	.	ENSG00000215853	ENST00000316073	T	0.11169	2.8	4.26	0.853	0.19001	.	.	.	.	.	T	0.01800	0.0057	N	0.19112	0.55	0.09310	N	1	B	0.28128	0.201	B	0.18871	0.023	T	0.45264	-0.9273	9	0.15499	T	0.54	1.1994	11.2546	0.49045	0.0:0.0:0.3412:0.6588	.	219	Q6XPR3	RPTN_HUMAN	D	219	ENSP00000317895:A219D	ENSP00000317895:A219D	A	-	2	0	RPTN	150395543	0.950000	0.32346	0.000000	0.03702	0.009000	0.06853	1.889000	0.39718	0.350000	0.24002	0.442000	0.29010	GCT		0.413	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		T	152128919	G	T	152128919	3	4	323	1	0	0	0	0	1	0	0	0	13667	971	34	3	1702	3	RPTN	1	152128919	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	840038	152128919	97121702	21	17133											
FLG	2312	genome.wustl.edu	37	1	152283746	152283746	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:152283746C>T	ENST00000368799.1	-	3	3651	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1206	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGGGAGGCATCAGACCTT	0.557									Ichthyosis																																							0			1											332	337	335					1																	152283746		2203	4298	6501	150550370	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3616G>A	1.37:g.152283746C>T	ENSP00000357789:p.Ala1206Thr		150550370	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.375	0.627643	0.14257	.	.	ENSG00000143631	ENST00000368799	T	0.01767	4.65	2.85	-5.31	0.02730	.	.	.	.	.	T	0.00754	0.0025	M	0.76574	2.34	0.09310	N	1	B	0.32409	0.37	B	0.30105	0.111	T	0.37865	-0.9687	9	0.13853	T	0.58	.	10.5783	0.45240	0.2974:0.7026:0.0:0.0	.	1206	P20930	FILA_HUMAN	T	1206	ENSP00000357789:A1206T	ENSP00000357789:A1206T	A	-	1	0	FLG	150550370	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.625000	0.24477	-0.637000	0.05516	-0.746000	0.03513	GCC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152283746	C	T	152283746	3	4	323	1	0	0	0	0	1	0	0	0	5922	710	25	2	8573	2	FLG	1	152283746	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	154827	152283746	96966875	22	17134											
OR6N1	128372	genome.wustl.edu	37	1	158736359	158736359	+	Silent	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:158736359A>G	ENST00000335094.2	-	1	133	c.114T>C	c.(112-114)acT>acC	p.T38T		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TTCCCAACACAGTCATGAGGT	0.502																																																0			1											94	93	93					1																	158736359		2203	4300	6503	157002983	SO:0001819	synonymous_variant	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.114T>C	1.37:g.158736359A>G			157002983	Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	37	CCDS30905.1																																																																																				0.502	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		G	158736359	A	G	158736359	2	3	323	1	0	0	0	0	0	0	0	1	11206	175	7	4		4	OR6N1	1	158736359	Silent	SNP	A	TCGA-29-1691-01A-01W-0633-09	6452613	158736359	90514262	23	17135											
NR1I3	9970	genome.wustl.edu	37	1	161199716	161199716	+	Splice_Site	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:161199716C>A	ENST00000367982.4	-	9	1085	c.930G>T	c.(928-930)cgG>cgT	p.R310R	TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000367981.3_Splice_Site_p.R282R|NR1I3_ENST00000442691.2_Intron|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367985.3_Splice_Site_p.R272R|NR1I3_ENST00000511676.1_Splice_Site_p.R277R|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000508740.1_Intron|MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367983.4_Splice_Site_p.R306R|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000504010.1_Splice_Site_p.R238R|NR1I3_ENST00000367984.4_Splice_Site_p.R267R|NR1I3_ENST00000515621.1_Splice_Site_p.R231R|NR1I3_ENST00000437437.2_Intron|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000367979.2_Splice_Site_p.R315R|NR1I3_ENST00000367980.2_Splice_Site_p.R315R|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000505005.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	310					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATACAGAAACCTTTGGAGGA	0.532																																																0			1											59	59	59					1																	161199716		2203	4300	6503	159466340	SO:0001630	splice_region_variant	9970			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.930-1G>T	1.37:g.161199716C>A			159466340	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Silent	SNP	ENST00000367982.4	37	CCDS41430.1																																																																																				0.532	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		Silent	A	161199716	C	A	161199716	5	1	323	1	0	0	0	0	0	0	1	0	10621	521	18	3	227	3	NR1I3	1	161199716	Splice_Site	SNP	C	TCGA-29-1691-01A-01W-0633-09	2463357	161199716	88050905	24	17136											
DNM3	26052	genome.wustl.edu	37	1	172002357	172002357	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:172002357T>G	ENST00000355305.5	+	6	958	c.801T>G	c.(799-801)caT>caG	p.H267Q	DNM3_ENST00000367731.1_Missense_Mutation_p.H267Q|DNM3_ENST00000520906.1_Missense_Mutation_p.H267Q|DNM3_ENST00000367733.2_Missense_Mutation_p.H267Q|DNM3_ENST00000358155.4_Missense_Mutation_p.H267Q			Q9UQ16	DYN3_HUMAN	dynamin 3	267	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTTACAGACATATCGCTGACC	0.443																																																0			1											54	57	56					1																	172002357		1915	4138	6053	170268980	SO:0001583	missense	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.801T>G	1.37:g.172002357T>G	ENSP00000347457:p.His267Gln		170268980	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	T	15.39	2.820766	0.50633	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.66	-4.21	0.03812	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.79614	2.46	0.52099	D	0.999943	P;D;D;P	0.69078	0.594;0.995;0.997;0.517	B;P;D;B	0.67548	0.383;0.658;0.952;0.261	T	0.80745	-0.1245	10	0.72032	D	0.01	.	14.9035	0.70699	0.0:0.6396:0.0:0.3604	.	267;267;267;267	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	Q	267;267;267;267;267;267;157	ENSP00000350876:H267Q;ENSP00000356707:H267Q;ENSP00000347457:H267Q;ENSP00000356705:H267Q;ENSP00000429701:H267Q;ENSP00000429416:H157Q	ENSP00000347457:H267Q	H	+	3	2	DNM3	170268980	0.966000	0.33281	0.966000	0.40874	0.206000	0.24218	0.156000	0.16382	-0.676000	0.05238	-0.912000	0.02778	CAT		0.443	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		G	172002357	T	G	172002357	3	3	323	1	0	0	0	0	1	0	0	0	4673	1403	49	5	823	5	DNM3	1	172002357	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	10802641	172002357	77248264	25	17137											
NR5A2	2494	genome.wustl.edu	37	1	200017451	200017451	+	Silent	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:200017451T>C	ENST00000367362.3	+	5	861	c.615T>C	c.(613-615)tcT>tcC	p.S205S	NR5A2_ENST00000236914.3_Silent_p.S159S|NR5A2_ENST00000544748.1_Silent_p.S133S	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	205					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTATGCCCTCTGACCTGACCA	0.502																																					Melanoma(179;1138 2773 15678 26136)											0			1											216	196	203					1																	200017451		2203	4300	6503	198284074	SO:0001819	synonymous_variant	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.615T>C	1.37:g.200017451T>C			198284074	B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	T	8.485	0.860669	0.17178	.	.	ENSG00000116833	ENST00000367357	.	.	.	5.63	-11.3	0.00108	.	.	.	.	.	T	0.31358	0.0794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39722	-0.9600	4	.	.	.	.	1.8697	0.03206	0.1681:0.3234:0.2486:0.2599	.	.	.	.	P	126	.	.	L	+	2	0	NR5A2	198284074	0.000000	0.05858	0.253000	0.24343	0.992000	0.81027	-2.206000	0.01231	-2.277000	0.00677	-0.490000	0.04691	CTG		0.502	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			C	200017451	T	C	200017451	2	2	323	1	0	0	0	0	0	0	0	1	10636	1567	55	4		4	NR5A2	1	200017451	Silent	SNP	T	TCGA-29-1691-01A-01W-0633-09	28015094	200017451	49233170	26	17138											
KIF21B	23046	genome.wustl.edu	37	1	200950120	200950120	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:200950120G>A	ENST00000422435.2	-	29	4263	c.3947C>T	c.(3946-3948)gCc>gTc	p.A1316V	KIF21B_ENST00000332129.2_Missense_Mutation_p.A1303V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A1316V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A1303V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1316					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCATCTGTGGCATCCAGGCA	0.587																																																0			1											103	85	91					1																	200950120		2203	4300	6503	199216743	SO:0001583	missense	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3947C>T	1.37:g.200950120G>A	ENSP00000411831:p.Ala1316Val		199216743	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697505	0.88830	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	N	0.01267	-0.92	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;D	0.87578	0.996;0.998;0.996;0.994	T	0.66799	-0.5832	10	0.28530	T	0.3	.	19.7987	0.96497	0.0:0.0:1.0:0.0	.	1303;1316;1316;1303	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1303;1303;1316;1316;1316	ENSP00000328494:A1303V;ENSP00000353724:A1303V;ENSP00000433808:A1316V;ENSP00000411831:A1316V	ENSP00000328494:A1303V	A	-	2	0	KIF21B	199216743	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.458000	0.97634	2.700000	0.92200	0.585000	0.79938	GCC		0.587	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200950120	G	A	200950120	3	1	323	1	0	0	0	0	1	0	0	0	8289	1203	42	2	994	2	KIF21B	1	200950120	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	932669	200950120	48300501	27	17139											
IL10	3586	genome.wustl.edu	37	1	206942043	206942076	+	Splice_Site	DEL	TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG	TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG	-	rs146520891		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG	TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:206942043_206942076delTCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG	ENST00000423557.1	-	5	503_533	c.445_475delCAGCTCCAAGAGAAAGGCATCTACAAAGCCATGA	c.(445-477)cagctccaagagaaaggcatctacaaagccatg>tg	p.QLQEKGIYKAM149fs	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	149					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCAAACTCACTCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTGTGCAGAGAGA	0.444																																																0			1																																								205008699	SO:0001630	splice_region_variant	3586			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.445-1CAGCTCCAAGAGAAAGGCATCTACAAAGCCATGA>-	1.37:g.206942043_206942076delTCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG			205008666		Frame_Shift_Del	DEL	ENST00000423557.1	37	CCDS1467.1																																																																																				0.444	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572	Frame_Shift_Del	-	206942076	TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG	-	206942043	8	5	323	1	0	1	0	1	0	0	1	0	7619	1551	54	0	65	0	IL10	1	206942043	Splice_Site	DEL	TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG	TCGA-29-1691-01A-01W-0633-09	5991923	206942043	42308578	28	17140											
FCAMR	83953	genome.wustl.edu	37	1	207133038	207133038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:207133038C>A	ENST00000450945.2	-	6	780	c.757G>T	c.(757-759)Gga>Tga	p.G253*	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000324852.4_Missense_Mutation_p.W520L|FCAMR_ENST00000400962.3_Nonsense_Mutation_p.G253*			Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	399					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CCTCCTTCTCCAGAGCTTCCT	0.537																																					Ovarian(199;1883 2142 16966 44409 45154)											0			1											130	125	126					1																	207133038		1568	3582	5150	205199661	SO:0001587	stop_gained	83953			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000450945.2:c.757G>T	1.37:g.207133038C>A	ENSP00000392707:p.Gly253*		205199661	Q32M82|Q8WWV5|Q96SA2	Nonsense_Mutation	SNP	ENST00000450945.2	37	CCDS41460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.227443|4.227443	0.79576|0.79576	.|.	.|.	ENSG00000162897|ENSG00000162897	ENST00000400962;ENST00000450945|ENST00000324852	.|T	.|0.04862	.|3.54	4.17|4.17	-2.53|-2.53	0.06326|0.06326	.|.	.|.	.|.	.|.	.|.	.|T	.|0.04003	.|0.0112	.|.	.|.	.|.	0.21579|0.21579	N|N	0.999634|0.999634	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	.|T	.|0.41893	.|-0.9483	.|8	0.56958|0.36615	D|T	0.05|0.2	.|.	6.3537|6.3537	0.21390|0.21390	0.0:0.5972:0.149:0.2538|0.0:0.5972:0.149:0.2538	.|.	.|495;475	.|D2KTA8;Q8WWV6	.|.;FCAMR_HUMAN	X|L	253|520	.|ENSP00000316491:W520L	ENSP00000383746:G253X|ENSP00000316491:W520L	G|W	-|-	1|2	0|0	FCAMR|FCAMR	205199661|205199661	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.131000|0.131000	0.20780|0.20780	-1.161000|-1.161000	0.03144|0.03144	-0.448000|-0.448000	0.07128|0.07128	-0.176000|-0.176000	0.13171|0.13171	GGA|TGG		0.537	FCAMR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088968.2	NM_032029		A	207133038	C	A	207133038	4	1	323	1	0	0	0	0	0	1	0	0	5772	604	21	3	182	3	FCAMR	1	207133038	Nonsense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	190995	207133038	42117583	29	17141											
GNPAT	8443	genome.wustl.edu	37	1	231401898	231401898	+	Missense_Mutation	SNP	A	A	T	rs368688523		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:231401898A>T	ENST00000366647.4	+	7	1080	c.911A>T	c.(910-912)aAa>aTa	p.K304I	GNPAT_ENST00000366646.3_Missense_Mutation_p.K243I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	304					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCTAAACCAAAAGAGTCTACA	0.348																																																0			1											106	109	108					1																	231401898		2203	4300	6503	229468521	SO:0001583	missense	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.911A>T	1.37:g.231401898A>T	ENSP00000355607:p.Lys304Ile		229468521	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187236	0.57909	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.53640	0.61;0.61;0.61	5.6	3.29	0.37713	.	0.048682	0.85682	D	0.000000	T	0.69949	0.3168	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.71724	-0.4506	10	0.87932	D	0	.	9.8239	0.40899	0.8608:0.0:0.1392:0.0	.	243;304	B4DNM9;O15228	.;GNPAT_HUMAN	I	304;243;294	ENSP00000355607:K304I;ENSP00000355606:K243I;ENSP00000411640:K294I	ENSP00000355606:K243I	K	+	2	0	GNPAT	229468521	1.000000	0.71417	0.941000	0.38009	0.452000	0.32318	5.996000	0.70639	0.417000	0.25871	0.377000	0.23210	AAA		0.348	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			T	231401898	A	T	231401898	3	4	323	1	0	0	0	0	1	0	0	0	6541	14	1	5	937	5	GNPAT	1	231401898	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	24268860	231401898	17848723	30	17142											
SIPA1L2	57568	genome.wustl.edu	37	1	232577078	232577078	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:232577078T>C	ENST00000366630.1	-	13	3959	c.3601A>G	c.(3601-3603)Aaa>Gaa	p.K1201E	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.K275E|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K1201E			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1201					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTCCATCTTTCTGCAGAGCT	0.448																																																0			1											306	314	311					1																	232577078		1845	4095	5940	230643701	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3601A>G	1.37:g.232577078T>C	ENSP00000355589:p.Lys1201Glu		230643701	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.807767	0.90623	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.42131	0.98;0.98;0.98	6.17	6.17	0.99709	.	0.278446	0.39341	N	0.001390	T	0.57548	0.2061	L	0.54323	1.7	0.50632	D	0.999888	D;D	0.61080	0.979;0.989	P;P	0.60789	0.525;0.879	T	0.54289	-0.8316	10	0.41790	T	0.15	-23.4289	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1201;275	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	E	1201;1201;275	ENSP00000355589:K1201E;ENSP00000262861:K1201E;ENSP00000309102:K275E	ENSP00000262861:K1201E	K	-	1	0	SIPA1L2	230643701	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.851000	0.75425	2.371000	0.80710	0.533000	0.62120	AAA		0.448	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		C	232577078	T	C	232577078	3	2	323	1	0	0	0	0	1	0	0	0	14333	1792	62	4	1607	4	SIPA1L2	1	232577078	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	1175180	232577078	16673543	31	17143											
HEATR1	55127	genome.wustl.edu	37	1	236749544	236749544	+	Missense_Mutation	SNP	C	C	G	rs555144272		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr1:236749544C>G	ENST00000366582.3	-	15	2038	c.1924G>C	c.(1924-1926)Gaa>Caa	p.E642Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E642Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	642					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTTTACCTTCTTCCCAGCCT	0.313																																																0			1											30	32	31					1																	236749544		2200	4297	6497	234816167	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1924G>C	1.37:g.236749544C>G	ENSP00000355541:p.Glu642Gln		234816167	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597966	0.46318	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.54279	0.58;0.58	5.85	5.85	0.93711	Armadillo-type fold (1);	0.205916	0.50627	D	0.000108	T	0.56572	0.1994	M	0.66939	2.045	0.80722	D	1	B	0.29270	0.24	B	0.28465	0.09	T	0.56739	-0.7929	10	0.62326	D	0.03	.	20.1653	0.98150	0.0:1.0:0.0:0.0	.	642	Q9H583	HEAT1_HUMAN	Q	642	ENSP00000355541:E642Q;ENSP00000355540:E642Q	ENSP00000355540:E642Q	E	-	1	0	HEATR1	234816167	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	2.433000	0.44793	2.768000	0.95171	0.655000	0.94253	GAA		0.313	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		G	236749544	C	G	236749544	3	3	323	1	0	0	0	0	1	0	0	0	7027	922	32	3	4634	3	HEATR1	1	236749544	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	4172466	236749544	12501077	32	17144											
ODC1	4953	genome.wustl.edu	37	2	10583919	10583919	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:10583919G>A	ENST00000234111.4	-	6	1003	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	ODC1_ENST00000405333.1_Missense_Mutation_p.R165C|ODC1_ENST00000446285.1_5'Flank|SNORA80B_ENST00000383906.1_RNA	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	165					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	ACACTGAGACGACAGACTGCT	0.463																																																0			2											122	114	116					2																	10583919		2203	4300	6503	10501370	SO:0001583	missense	4953				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.493C>T	2.37:g.10583919G>A	ENSP00000234111:p.Arg165Cys		10501370	Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079504	0.55753	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.49139	0.79;0.79	5.75	4.87	0.63330	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.046617	0.85682	N	0.000000	T	0.44871	0.1314	L	0.54965	1.715	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33828	-0.9853	10	0.41790	T	0.15	.	14.6395	0.68714	0.0696:0.0:0.9304:0.0	.	165	P11926	DCOR_HUMAN	C	165;165;36	ENSP00000234111:R165C;ENSP00000385333:R165C	ENSP00000234111:R165C	R	-	1	0	ODC1	10501370	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.401000	0.73256	1.431000	0.47355	0.655000	0.94253	CGT		0.463	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			A	10583919	G	A	10583919	3	1	323	1	0	0	0	0	1	0	0	0	10825	1058	37	1	920	1	ODC1	2	10583919	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09		10583919	232615454	33	17145											
AGBL5	60509	genome.wustl.edu	37	2	27293051	27293051	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:27293051T>C	ENST00000360131.4	+	15	2740	c.2581T>C	c.(2581-2583)Tac>Cac	p.Y861H		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	861					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGAATTGTTACAGCAGGGG	0.557																																																0			2											123	116	118					2																	27293051		1858	4096	5954	27146555	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2581T>C	2.37:g.27293051T>C	ENSP00000353249:p.Tyr861His		27146555	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	T	10.09	1.255484	0.22965	.	.	ENSG00000084693	ENST00000360131	T	0.18960	2.18	5.21	4.05	0.47172	.	0.536827	0.18963	N	0.126346	T	0.13329	0.0323	N	0.24115	0.695	0.29465	N	0.857492	B	0.06786	0.001	B	0.10450	0.005	T	0.09773	-1.0659	10	0.48119	T	0.1	-13.018	6.5993	0.22691	0.0:0.1142:0.0:0.8858	.	861	Q8NDL9	CBPC5_HUMAN	H	861	ENSP00000353249:Y861H	ENSP00000353249:Y861H	Y	+	1	0	AGBL5	27146555	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.009000	0.40903	0.996000	0.38943	0.459000	0.35465	TAC		0.557	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		C	27293051	T	C	27293051	3	2	323	1	0	0	0	0	1	0	0	0	378	1754	61	4	2700	4	AGBL5	2	27293051	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	16709132	27293051	215906322	34	17146											
SLC5A6	8884	genome.wustl.edu	37	2	27430474	27430474	+	Silent	SNP	C	C	T	rs192221724	byFrequency	TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:27430474C>T	ENST00000310574.3	-	3	518	c.45G>A	c.(43-45)tcG>tcA	p.S15S	SLC5A6_ENST00000408041.1_Silent_p.S15S	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	15					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CGCTTGTGCCCGAGGTTGGGG	0.567													C|||	3	0.000599042	0	0.0014	5008	,	,		22834	0		0.002	False		,,,				2504	0															0			2						C		1,4405	2.1+/-5.4	0,1,2202	133	109	117		45	-8.3	0	2		117	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC5A6	NM_021095.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		15/636	27430474	3,13003	2203	4300	6503	27283978	SO:0001819	synonymous_variant	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.45G>A	2.37:g.27430474C>T			27283978	B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	CCDS1740.1																																																																																				0.567	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		T	27430474	C	T	27430474	2	4	323	1	0	0	0	0	0	0	0	1	14672	639	23	1		1	SLC5A6	2	27430474	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	137423	27430474	215768899	35	17147											
C2orf28	51374	genome.wustl.edu	37	2	27439404	27439404	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:27439404G>T	ENST00000606999.1	+	6	559	c.501G>T	c.(499-501)gaG>gaT	p.E167D	CAD_ENST00000403525.1_5'Flank|ATRAID_ENST00000405489.3_Missense_Mutation_p.E109D|ATRAID_ENST00000380171.3_Missense_Mutation_p.E222D|CAD_ENST00000264705.4_5'Flank	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	167	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											TGTGTCCTGAGAATGGATCTT	0.423																																																0			2											346	335	339					2																	27439404		2203	4300	6503	27292908	SO:0001583	missense	51374			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"apoptosis-related protein 3"		"chromosome 2 open reading frame 28"	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.501G>T	2.37:g.27439404G>T	ENSP00000476080:p.Glu167Asp		27292908	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37		.	.	.	.	.	.	.	.	.	.	G	18.23	3.577011	0.65878	.	.	ENSG00000138085	ENST00000380171;ENST00000405489	D;T	0.85484	-1.99;1.01	5.61	2.86	0.33363	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.046644	0.85682	D	0.000000	D	0.89976	0.6871	M	0.75264	2.295	0.38244	D	0.941411	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.99	D	0.88858	0.3324	10	0.66056	D	0.02	-22.9724	7.6911	0.28569	0.2554:0.0:0.7446:0.0	.	167;222	Q6UW56;Q6UW56-3	APR3_HUMAN;.	D	222;109	ENSP00000369518:E222D;ENSP00000384033:E109D	ENSP00000369518:E222D	E	+	3	2	C2orf28	27292908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.218000	0.42889	0.330000	0.23485	0.561000	0.74099	GAG		0.423	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		T	27439404	G	T	27439404	3	4	323	1	0	0	0	0	1	0	0	0	2160	933	33	3	688	3	C2orf28	2	27439404	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	8930	27439404	215759969	36	17148											
RANBP2	5903	genome.wustl.edu	37	2	109369927	109369927	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:109369927G>C	ENST00000283195.6	+	14	2089	c.1963G>C	c.(1963-1965)Gct>Cct	p.A655P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	655					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CATAACTTTTGCTATATTGGA	0.318																																																0			2											18	21	20					2																	109369927		1452	2641	4093	108736359	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1963G>C	2.37:g.109369927G>C	ENSP00000283195:p.Ala655Pro		108736359	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076503	0.76415	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.50001	0.76	4.92	4.92	0.64577	.	.	.	.	.	T	0.68329	0.2989	M	0.69823	2.125	0.36883	D	0.889529	D	0.89917	1.0	D	0.71414	0.973	T	0.76421	-0.2965	9	0.87932	D	0	-15.3546	18.0933	0.89480	0.0:0.0:1.0:0.0	.	655	P49792	RBP2_HUMAN	P	655	ENSP00000283195:A655P	ENSP00000283195:A655P	A	+	1	0	RANBP2	108736359	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.253000	0.65452	2.432000	0.82394	0.650000	0.86243	GCT		0.318	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		C	109369927	G	C	109369927	3	2	323	1	0	0	0	0	1	0	0	0	13031	1319	46	3	2017	3	RANBP2	2	109369927	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	81930523	109369927	133829446	37	17149											
SCN3A	6328	genome.wustl.edu	37	2	165984338	165984338	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:165984338C>G	ENST00000360093.3	-	18	3687	c.3196G>C	c.(3196-3198)Gat>Cat	p.D1066H	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1017H|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1066H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1066					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATTCCCATCTCTAAGATAA	0.363																																																0			2											132	124	127					2																	165984338		2203	4300	6503	165692584	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3196G>C	2.37:g.165984338C>G	ENSP00000353206:p.Asp1066His		165692584	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	C	15.39	2.819308	0.50633	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.93	5.93	0.95920	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000005	D	0.91439	0.7298	M	0.82630	2.6	0.80722	D	1	P;D;D;D;P	0.57571	0.868;0.96;0.98;0.98;0.841	P;P;P;P;P	0.61658	0.892;0.776;0.668;0.668;0.473	D	0.91279	0.5050	10	0.59425	D	0.04	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	1066;1017;1017;1017;1066	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	H	1066;1066;1017;1017	ENSP00000353206:D1066H;ENSP00000283254:D1066H;ENSP00000386726:D1017H;ENSP00000403348:D1017H	ENSP00000283254:D1066H	D	-	1	0	SCN3A	165692584	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.657000	0.46724	2.815000	0.96918	0.561000	0.74099	GAT		0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		G	165984338	C	G	165984338	3	3	323	1	0	0	0	0	1	0	0	0	13921	913	32	3	2850	3	SCN3A	2	165984338	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	56614411	165984338	77215035	38	17150											
TTC21B	79809	genome.wustl.edu	37	2	166799728	166799728	+	Splice_Site	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:166799728C>A	ENST00000243344.7	-	5	690		c.e5+1		AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B						forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTCCAACTCACCTTACCCAGC	0.328																																																0			2											123	116	118					2																	166799728		2203	4300	6503	166507974	SO:0001630	splice_region_variant	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.552+1G>T	2.37:g.166799728C>A			166507974	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Splice_Site	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346990	0.82022	.	.	ENSG00000123607	ENST00000243344	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8293	0.92132	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC21B	166507974	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.905000	0.75714	2.433000	0.82419	0.655000	0.94253	.		0.328	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	Intron	A	166799728	C	A	166799728	5	1	323	1	0	0	0	0	0	0	1	0	16688	521	18	3	3497	3	TTC21B	2	166799728	Splice_Site	SNP	C	TCGA-29-1691-01A-01W-0633-09	815390	166799728	76399645	39	17151											
GORASP2	26003	genome.wustl.edu	37	2	171811159	171811159	+	Splice_Site	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:171811159G>C	ENST00000234160.4	+	6	1381		c.e6-1		GORASP2_ENST00000452526.2_Splice_Site|GORASP2_ENST00000493692.1_Intron	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa						mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TGTTTTTATAGCCTAGGATGT	0.398																																																0			2											96	93	94					2																	171811159		2203	4300	6503	171519405	SO:0001630	splice_region_variant	26003				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"golgi reassembly stacking protein 2, 55 kDa"			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.567-1G>C	2.37:g.171811159G>C			171519405	B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Splice_Site	SNP	ENST00000234160.4	37	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474159	0.84640	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.333	0.90277	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GORASP2	171519405	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.572000	0.98179	2.762000	0.94881	0.551000	0.68910	.		0.398	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2		Intron	C	171811159	G	C	171811159	5	2	323	1	0	0	0	0	0	0	1	0	6576	985	34	3	588	3	GORASP2	2	171811159	Splice_Site	SNP	G	TCGA-29-1691-01A-01W-0633-09	5011431	171811159	71388214	40	17152											
SATB2	23314	genome.wustl.edu	37	2	200137319	200137319	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:200137319G>A	ENST00000417098.1	-	11	2633	c.1817C>T	c.(1816-1818)cCg>cTg	p.P606L	SATB2_ENST00000457245.1_Missense_Mutation_p.P606L|SATB2_ENST00000443023.1_Missense_Mutation_p.P547L|SATB2_ENST00000428695.1_Missense_Mutation_p.P488L|SATB2_ENST00000260926.5_Missense_Mutation_p.P606L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	606					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTCTTCAGTCGGAGGAGGTGG	0.502																																					Colon(30;262 767 11040 24421 36230)											0			2											71	80	77					2																	200137319		2203	4300	6503	199845564	SO:0001583	missense	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1817C>T	2.37:g.200137319G>A	ENSP00000401112:p.Pro606Leu		199845564	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959927	0.34565	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.45276	0.9;0.93;0.9;0.94;0.9	5.25	5.25	0.73442	.	0.269957	0.36444	N	0.002595	T	0.21550	0.0519	N	0.08118	0	0.47441	D	0.99942	P;B	0.35844	0.524;0.174	B;B	0.17722	0.019;0.004	T	0.09037	-1.0693	10	0.34782	T	0.22	-5.3416	16.7451	0.85470	0.0:0.0:1.0:0.0	.	488;606	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	L	606;547;606;488;606	ENSP00000401112:P606L;ENSP00000388764:P547L;ENSP00000260926:P606L;ENSP00000388581:P488L;ENSP00000405420:P606L	ENSP00000260926:P606L	P	-	2	0	SATB2	199845564	1.000000	0.71417	0.963000	0.40424	0.916000	0.54674	3.013000	0.49582	2.620000	0.88729	0.644000	0.83932	CCG		0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		A	200137319	G	A	200137319	3	1	323	1	0	0	0	0	1	0	0	0	13857	1116	39	1	388	1	SATB2	2	200137319	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	28326160	200137319	43062054	41	17153											
AOX1	316	genome.wustl.edu	37	2	201492122	201492122	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:201492122A>T	ENST00000374700.2	+	20	2412	c.2171A>T	c.(2170-2172)gAa>gTa	p.E724V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	724					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGGAAACTGGAATATGGAAAT	0.423																																																0			2											199	204	202					2																	201492122		2203	4300	6503	201200367	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2171A>T	2.37:g.201492122A>T	ENSP00000363832:p.Glu724Val		201200367	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290369	0.40494	.	.	ENSG00000138356	ENST00000374700	T	0.39056	1.1	4.87	4.87	0.63330	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.177350	0.48767	D	0.000162	T	0.40862	0.1134	L	0.58925	1.835	0.54753	D	0.999984	B	0.34290	0.447	B	0.35727	0.209	T	0.40403	-0.9565	10	0.52906	T	0.07	-59.7893	11.5833	0.50904	0.851:0.1489:0.0:0.0	.	724	Q06278	ADO_HUMAN	V	724	ENSP00000363832:E724V	ENSP00000363832:E724V	E	+	2	0	AOX1	201200367	1.000000	0.71417	0.998000	0.56505	0.188000	0.23474	4.050000	0.57404	2.159000	0.67721	0.467000	0.42956	GAA		0.423	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		T	201492122	A	T	201492122	3	4	323	1	0	0	0	0	1	0	0	0	729	246	9	5	2249	5	AOX1	2	201492122	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	1354803	201492122	41707251	42	17154											
CYP20A1	57404	genome.wustl.edu	37	2	204103807	204103807	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:204103807G>T	ENST00000356079.4	+	1	145	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.A8S	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	8						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CGCGATCTTCGCCGTTACCTT	0.652																																																0			2											124	101	108					2																	204103807		2203	4300	6503	203812052	SO:0001583	missense	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.22G>T	2.37:g.204103807G>T	ENSP00000348380:p.Ala8Ser		203812052	Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553604	0.86231	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;D	0.84146	-0.6;-0.68;-1.81	4.68	4.68	0.58851	.	0.113106	0.64402	D	0.000011	D	0.87641	0.6228	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65987	0.919;0.94	D	0.87162	0.2215	10	0.37606	T	0.19	-1.1869	17.5197	0.87783	0.0:0.0:1.0:0.0	.	8;8	E9PHG5;Q6UW02	.;CP20A_HUMAN	S	8	ENSP00000348380:A8S;ENSP00000407860:A8S;ENSP00000411341:A8S	ENSP00000348380:A8S	A	+	1	0	CYP20A1	203812052	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.494000	0.81503	2.282000	0.76494	0.462000	0.41574	GCC		0.652	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		T	204103807	G	T	204103807	3	4	323	1	0	0	0	0	1	0	0	0	4152	1087	38	3	24	3	CYP20A1	2	204103807	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	2611685	204103807	39095566	43	17155											
USP37	57695	genome.wustl.edu	37	2	219319666	219319666	+	Missense_Mutation	SNP	C	C	T	rs61752208	byFrequency	TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:219319666C>T	ENST00000258399.3	-	26	3339	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	USP37_ENST00000454775.1_Missense_Mutation_p.R976H|USP37_ENST00000418019.1_Missense_Mutation_p.R976H|USP37_ENST00000415516.1_Missense_Mutation_p.R882H	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	976					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CAAGGCCTGACGGGTAGTCTT	0.458													C|||	16	0.00319489	8e-04	0.0014	5008	,	,		18769	0		0.0099	False		,,,				2504	0.0041															0			2						C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	148	137	141		2927	3.8	0.3	2	dbSNP_129	141	58,8542	36.4+/-91.3	0,58,4242	yes	missense	USP37	NM_020935.2	29	0,61,6442	TT,TC,CC		0.6744,0.0681,0.469	probably-damaging	976/980	219319666	61,12945	2203	4300	6503	219027910	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2927G>A	2.37:g.219319666C>T	ENSP00000258399:p.Arg976His		219027910	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	CCDS2418.1	7	0.003205128205128205	1	0.0020325203252032522	0	0.0	0	0.0	6	0.0079155672823219	C	15.76	2.927138	0.52759	6.81E-4	0.006744	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.51071	0.79;0.79;0.72;0.79	5.61	3.83	0.44106	.	0.291939	0.33895	N	0.004459	T	0.29491	0.0735	N	0.14661	0.345	0.38925	D	0.957829	D;P	0.55172	0.97;0.902	P;B	0.48815	0.591;0.277	T	0.30736	-0.9968	10	0.52906	T	0.07	-5.8933	11.8735	0.52534	0.0:0.8616:0.0:0.1384	rs61752208	882;976	Q86T82-2;Q86T82	.;UBP37_HUMAN	H	976;976;882;976	ENSP00000258399:R976H;ENSP00000393662:R976H;ENSP00000400902:R882H;ENSP00000396585:R976H	ENSP00000258399:R976H	R	-	2	0	USP37	219027910	0.723000	0.28027	0.324000	0.25361	0.489000	0.33432	1.293000	0.33353	0.947000	0.37659	0.650000	0.86243	CGT		0.458	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		T	219319666	C	T	219319666	3	4	323	1	0	0	0	0	1	0	0	0	17068	536	19	1	16	1	USP37	2	219319666	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	15215859	219319666	23879707	44	17156											
DOCK10	55619	genome.wustl.edu	37	2	225635022	225635022	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:225635022C>T	ENST00000258390.7	-	55	6417	c.6350G>A	c.(6349-6351)cGc>cAc	p.R2117H	DOCK10_ENST00000409592.3_Missense_Mutation_p.R2111H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2117	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTGATGAGGCGCTCATTCAC	0.507																																																0			2											97	92	93					2																	225635022		2049	4209	6258	225343266	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6350G>A	2.37:g.225635022C>T	ENSP00000258390:p.Arg2117His		225343266	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557079	0.86231	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.18174	2.23;2.23	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	M	0.76574	2.34	0.53688	D	0.999974	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77557	0.98;0.98;0.99	T	0.44620	-0.9316	10	0.87932	D	0	.	18.8883	0.92388	0.0:1.0:0.0:0.0	.	2117;2111;779	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	H	2111;2117;624	ENSP00000386694:R2111H;ENSP00000258390:R2117H	ENSP00000258390:R2117H	R	-	2	0	DOCK10	225343266	1.000000	0.71417	0.996000	0.52242	0.848000	0.48234	4.824000	0.62701	2.472000	0.83506	0.563000	0.77884	CGC		0.507	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			T	225635022	C	T	225635022	3	4	323	1	0	0	0	0	1	0	0	0	4685	768	27	1	218	1	DOCK10	2	225635022	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	6315356	225635022	17564351	45	17157											
USP40	55230	genome.wustl.edu	37	2	234433176	234433176	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:234433176C>A	ENST00000427112.2	-	14	1875	c.1840G>T	c.(1840-1842)Gct>Tct	p.A614S	USP40_ENST00000251722.6_Missense_Mutation_p.A614S|USP40_ENST00000450966.1_Missense_Mutation_p.A626S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	614					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCCCCATCAGCAATTTCAGTT	0.378																																																0			2											88	82	84					2																	234433176		1860	4120	5980	234097915	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1840G>T	2.37:g.234433176C>A	ENSP00000387898:p.Ala614Ser		234097915	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264834	0.40095	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.42900	0.96;0.96;0.96	5.68	2.49	0.30216	.	1.212950	0.06066	N	0.659255	T	0.40886	0.1135	M	0.64997	1.995	0.09310	N	1	B;P	0.36959	0.44;0.575	B;B	0.36845	0.118;0.234	T	0.33292	-0.9874	10	0.42905	T	0.14	.	5.8739	0.18819	0.133:0.5625:0.0:0.3045	.	614;626	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	S	626;614;614	ENSP00000415434:A626S;ENSP00000251722:A614S;ENSP00000387898:A614S	ENSP00000251722:A614S	A	-	1	0	USP40	234097915	0.001000	0.12720	0.494000	0.27515	0.982000	0.71751	0.333000	0.19768	0.759000	0.33084	0.563000	0.77884	GCT		0.378	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		A	234433176	C	A	234433176	3	1	323	1	0	0	0	0	1	0	0	0	17072	710	25	3	1939	3	USP40	2	234433176	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	8798154	234433176	8766197	46	17158											
PRR21	643905	genome.wustl.edu	37	2	240982126	240982126	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr2:240982126G>T	ENST00000408934.1	-	1	273	c.274C>A	c.(274-276)Ctt>Att	p.L92I		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	92	Pro-rich.							p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						CGTGGGTGAAGAGGCATGGAT	0.612																																																2	Deletion - Frameshift(2)	upper_aerodigestive_tract(2)	2											131	127	128					2																	240982126		2099	4174	6273	240630799	SO:0001583	missense	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.274C>A	2.37:g.240982126G>T	ENSP00000386166:p.Leu92Ile		240630799		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	-	9.362	1.068302	0.20067	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.12879	2.64;2.64	1.79	0.872	0.19113	.	.	.	.	.	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	P	0.50754	0.649	T	0.10132	-1.0643	9	0.06494	T	0.89	.	6.074	0.19905	0.1849:0.0:0.8151:0.0	.	92	Q8WXC7	PRR21_HUMAN	I	92	ENSP00000386166:L92I;ENSP00000418240:L92I	ENSP00000386166:L92I	L	-	1	0	PRR21	240630799	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.228000	0.09114	0.285000	0.22329	0.505000	0.49811	CTT		0.612	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		T	240982126	G	T	240982126	3	4	323	1	0	0	0	0	1	0	0	0	12595	942	33	3	898	3	PRR21	2	240982126	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	6548950	240982126	2217247	47	17159											
ZFYVE20	64145	genome.wustl.edu	37	3	15115825	15115825	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr3:15115825C>G	ENST00000253699.3	-	14	2432	c.1819G>C	c.(1819-1821)Ggc>Cgc	p.G607R	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.G607R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	607	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CGCTCCTGGCCAACGGCTGGG	0.597																																																0			3											45	49	48					3																	15115825		2203	4300	6503	15090829	SO:0001583	missense	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1819G>C	3.37:g.15115825C>G	ENSP00000253699:p.Gly607Arg		15090829	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	3.883	-0.025595	0.07589	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.51817	0.69;0.69	5.43	-0.0493	0.13835	.	0.648887	0.16801	N	0.198955	T	0.34513	0.0900	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20174	-1.0283	10	0.23891	T	0.37	-5.5239	6.2646	0.20919	0.0:0.3919:0.2831:0.325	.	607	Q9H1K0	RBNS5_HUMAN	R	607	ENSP00000253699:G607R;ENSP00000422551:G607R	ENSP00000253699:G607R	G	-	1	0	ZFYVE20	15090829	0.007000	0.16637	0.025000	0.17156	0.155000	0.21991	0.048000	0.14078	-0.075000	0.12798	0.491000	0.48974	GGC		0.597	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		G	15115825	C	G	15115825	3	3	323	1	0	0	0	0	1	0	0	0	17666	594	21	3	539	3	ZFYVE20	3	15115825	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09		15115825	182906605	48	17160											
MYRIP	25924	genome.wustl.edu	37	3	39942341	39942341	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr3:39942341G>A	ENST00000302541.6	+	2	376	c.34G>A	c.(34-36)Gat>Aat	p.D12N	MYRIP_ENST00000425621.1_Missense_Mutation_p.D12N|MYRIP_ENST00000444716.1_Missense_Mutation_p.D12N|MYRIP_ENST00000396217.3_De_novo_Start_InFrame	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	12	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGGTTTGACTGATGATGAAAC	0.423																																																0			3											167	156	160					3																	39942341		2203	4300	6503	39917345	SO:0001583	missense	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.34G>A	3.37:g.39942341G>A	ENSP00000301972:p.Asp12Asn		39917345	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369389	0.82463	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621	T;T;T	0.78481	-1.18;-1.18;-1.18	5.37	5.37	0.77165	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000006	D	0.85737	0.5766	L	0.57536	1.79	0.80722	D	1	D;D;P	0.67145	0.987;0.996;0.49	D;D;B	0.78314	0.971;0.991;0.104	D	0.84578	0.0659	9	.	.	.	.	17.0286	0.86454	0.0:0.0:1.0:0.0	.	12;12;12	B3KWW4;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	N	12	ENSP00000398665:D12N;ENSP00000301972:D12N;ENSP00000389323:D12N	.	D	+	1	0	MYRIP	39917345	1.000000	0.71417	0.671000	0.29857	0.999000	0.98932	6.831000	0.75324	2.703000	0.92315	0.650000	0.86243	GAT		0.423	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		A	39942341	G	A	39942341	3	1	323	1	0	0	0	0	1	0	0	0	10100	1290	45	2	36	2	MYRIP	3	39942341	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	24826516	39942341	158080089	49	17161											
CD80	941	genome.wustl.edu	37	3	119256071	119256071	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr3:119256071C>A	ENST00000264246.3	-	4	975	c.613G>T	c.(613-615)Gat>Tat	p.D205Y	CD80_ENST00000383669.3_Missense_Mutation_p.D205Y|CD80_ENST00000478182.1_Missense_Mutation_p.D205Y|CD80_ENST00000383668.3_Intron	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	205	Ig-like C2-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	ATATTGAAATCCAGTTTGCTG	0.403																																					Melanoma(132;135 1764 1806 5833 14593)											0			3											223	193	203					3																	119256071		2203	4300	6503	120738761	SO:0001583	missense	941				CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.613G>T	3.37:g.119256071C>A	ENSP00000264246:p.Asp205Tyr		120738761	Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650447	0.29336	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669	T;T;T	0.76186	-1.0;-1.0;-1.0	5.19	3.41	0.39046	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.528716	0.17383	N	0.176221	D	0.83566	0.5282	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.985;0.987	T	0.81165	-0.1057	10	0.54805	T	0.06	-9.3437	6.3274	0.21251	0.0:0.597:0.291:0.1121	.	205;205	Q5DTB0;P33681	.;CD80_HUMAN	Y	205	ENSP00000264246:D205Y;ENSP00000418364:D205Y;ENSP00000373165:D205Y	ENSP00000264246:D205Y	D	-	1	0	CD80	120738761	0.950000	0.32346	0.946000	0.38457	0.040000	0.13550	0.451000	0.21779	0.759000	0.33084	-0.145000	0.13849	GAT		0.403	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		A	119256071	C	A	119256071	3	1	323	1	0	0	0	0	1	0	0	0	3038	855	30	3	265	3	CD80	3	119256071	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	79313730	119256071	78766359	50	17162											
SEMA5B	54437	genome.wustl.edu	37	3	122641231	122641231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr3:122641231G>A	ENST00000357599.3	-	11	1722	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	SEMA5B_ENST00000451055.2_Nonsense_Mutation_p.Q500*|SEMA5B_ENST00000195173.4_Nonsense_Mutation_p.Q446*	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	446	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AAGAGGCGCTGCGCGTCCTGC	0.701																																																0			3											30	29	29					3																	122641231		2203	4300	6503	124123921	SO:0001587	stop_gained	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1336C>T	3.37:g.122641231G>A	ENSP00000350215:p.Gln446*		124123921	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Nonsense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	42	9.684846	0.99238	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.0865	0.89458	0.0:0.0:1.0:0.0	.	.	.	.	X	446;446;388;500;446	.	ENSP00000195173:Q446X	Q	-	1	0	SEMA5B	124123921	1.000000	0.71417	0.964000	0.40570	0.966000	0.64601	9.589000	0.98235	2.759000	0.94783	0.591000	0.81541	CAG		0.701	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		A	122641231	G	A	122641231	4	1	323	1	0	0	0	0	0	1	0	0	14041	1328	46	2	2171	2	SEMA5B	3	122641231	Nonsense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	3385160	122641231	75381199	51	17163											
HTT	3064	genome.wustl.edu	37	4	3237100	3237100	+	Missense_Mutation	SNP	C	C	T	rs144891713		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr4:3237100C>T	ENST00000355072.5	+	62	8691	c.8546C>T	c.(8545-8547)cCg>cTg	p.P2849L	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2849					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GACGTAGGGCCGGAATTTTCA	0.527													C|||	1	0.000199681	0	0	5008	,	,		22837	0		0.001	False		,,,				2504	0															0			4						C	LEU/PRO	0,4206		0,0,2103	107	106	106		8546	4.9	0.9	4	dbSNP_134	106	1,8441		0,1,4220	no	missense	HTT	NM_002111.6	98	0,1,6323	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	2849/3143	3237100	1,12647	2103	4221	6324	3206898	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8546C>T	4.37:g.3237100C>T	ENSP00000347184:p.Pro2849Leu		3206898	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.4	4.144996	0.77888	0.0	1.18E-4	ENSG00000197386	ENST00000355072	T	0.05382	3.45	4.89	4.89	0.63831	.	0.202296	0.47093	D	0.000258	T	0.06645	0.0170	L	0.40543	1.245	0.58432	D	0.999999	P	0.45986	0.87	B	0.33846	0.171	T	0.24261	-1.0165	10	0.66056	D	0.02	.	17.3868	0.87418	0.0:1.0:0.0:0.0	.	2849	P42858	HD_HUMAN	L	2849	ENSP00000347184:P2849L	ENSP00000347184:P2849L	P	+	2	0	HTT	3206898	1.000000	0.71417	0.916000	0.36221	0.961000	0.63080	5.567000	0.67378	2.425000	0.82216	0.462000	0.41574	CCG		0.527	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		T	3237100	C	T	3237100	3	4	323	1	0	0	0	0	1	0	0	0	7457	652	23	1	8792	1	HTT	4	3237100	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09		3237100	187917176	52	17164											
LYAR	55646	genome.wustl.edu	37	4	4285446	4285446	+	Silent	SNP	T	T	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr4:4285446T>G	ENST00000343470.4	-	3	264	c.24A>C	c.(22-24)gcA>gcC	p.A8A	LYAR_ENST00000452476.1_Silent_p.A8A	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	8						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTCACCACATGCATTGCATG	0.343																																																0			4											86	79	82					4																	4285446		2203	4300	6503	4336347	SO:0001819	synonymous_variant	55646			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.24A>C	4.37:g.4285446T>G			4336347	D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	CCDS3374.1																																																																																				0.343	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		G	4285446	T	G	4285446	2	3	323	1	0	0	0	0	0	0	0	1	9103	1451	51	5		5	LYAR	4	4285446	Silent	SNP	T	TCGA-29-1691-01A-01W-0633-09	1048346	4285446	186868830	53	17165											
IL8	3576	genome.wustl.edu	37	4	74607310	74607310	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr4:74607310C>T	ENST00000307407.3	+	2	269	c.116C>T	c.(115-117)aCa>aTa	p.T39I	IL8_ENST00000401931.1_Missense_Mutation_p.T39I	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		39					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		TGCATAAAGACATACTCCAAA	0.398																																																0			4											93	89	90					4																	74607310		2203	4300	6503	74826174	SO:0001583	missense	3576																														ENST00000307407.3:c.116C>T	4.37:g.74607310C>T	ENSP00000306512:p.Thr39Ile		74826174	B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Missense_Mutation	SNP	ENST00000307407.3	37	CCDS34005.1	.	.	.	.	.	.	.	.	.	.	C	7.131	0.579930	0.13686	.	.	ENSG00000169429	ENST00000307407;ENST00000401931	T;T	0.05258	3.47;3.47	4.96	3.23	0.37069	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.092492	0.85682	N	0.000000	T	0.06325	0.0163	.	.	.	0.20074	N	0.999939	B;B	0.18166	0.026;0.026	B;B	0.21917	0.037;0.022	T	0.28808	-1.0032	9	0.59425	D	0.04	-11.294	9.3915	0.38376	0.0:0.8224:0.0:0.1776	.	39;39	C9J4T6;P10145	.;IL8_HUMAN	I	39	ENSP00000306512:T39I;ENSP00000385908:T39I	ENSP00000306512:T39I	T	+	2	0	IL8	74826174	0.001000	0.12720	0.005000	0.12908	0.091000	0.18340	0.093000	0.15086	0.613000	0.30089	0.585000	0.79938	ACA		0.398	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322211.1			T	74607310	C	T	74607310	3	4	323	1	0	0	0	0	1	0	0	0	7706	478	17	2	122	2	IL8	4	74607310	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	70321864	74607310	116546966	54	17166											
TIGD2	166815	genome.wustl.edu	37	4	90035332	90035332	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr4:90035332G>A	ENST00000317005.2	+	1	1365	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	403						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CATTGATGAAGGAGCCATTTT	0.383																																																0			4											93	93	93					4																	90035332		2203	4300	6503	90254355	SO:0001583	missense	166815			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1207G>A	4.37:g.90035332G>A	ENSP00000317170:p.Gly403Arg		90254355		Missense_Mutation	SNP	ENST00000317005.2	37	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462098	0.26248	.	.	ENSG00000180346	ENST00000317005	T	0.23147	1.92	4.56	2.69	0.31865	.	0.000000	0.41823	D	0.000814	T	0.15132	0.0365	L	0.34521	1.04	0.28612	N	0.908592	P	0.46064	0.872	B	0.40165	0.321	T	0.08452	-1.0721	10	0.13853	T	0.58	-7.5249	7.5101	0.27569	0.0:0.1816:0.6309:0.1875	.	403	Q4W5G0	TIGD2_HUMAN	R	403	ENSP00000317170:G403R	ENSP00000317170:G403R	G	+	1	0	TIGD2	90254355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.103000	0.31062	1.103000	0.41568	0.460000	0.39030	GGA		0.383	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		A	90035332	G	A	90035332	3	1	323	1	0	0	0	0	1	0	0	0	15896	1001	35	2	1209	2	TIGD2	4	90035332	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	15428022	90035332	101118944	55	17167											
KIAA1109	84162	genome.wustl.edu	37	4	123225953	123225953	+	Splice_Site	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr4:123225953G>C	ENST00000264501.4	+	56	9860	c.9487G>C	c.(9487-9489)Ggt>Cgt	p.G3163R	KIAA1109_ENST00000455637.1_Splice_Site_p.G3163R|KIAA1109_ENST00000388738.3_Splice_Site_p.G3163R			Q2LD37	K1109_HUMAN	KIAA1109	3163					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATCTGCTAGGGTATTCAAGT	0.338																																																0			4											90	82	85					4																	123225953		1837	4086	5923	123445403	SO:0001630	splice_region_variant	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9487-1G>C	4.37:g.123225953G>C			123445403	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.04|14.04	2.417455|2.417455	0.42918|0.42918	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.16073	.|2.37;2.37;2.37	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.31638|0.31638	0.0803|0.0803	N|N	0.25890|0.25890	0.77|0.77	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	T|T	0.01524|0.01524	-1.1333|-1.1333	6|9	.|.	.|.	.|.	.|.	20.081|20.081	0.97775|0.97775	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3163;3163	.|Q2LD37-6;Q2LD37	.|.;K1109_HUMAN	A|R	1120|3163	.|ENSP00000264501:G3163R;ENSP00000373390:G3163R;ENSP00000389925:G3163R	.|.	G|G	+|+	2|1	0|0	KIAA1109|KIAA1109	123445403|123445403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	9.713000|9.713000	0.98740|0.98740	2.753000|2.753000	0.94483|0.94483	0.555000|0.555000	0.69702|0.69702	GGG|GGT		0.338	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	Missense_Mutation	C	123225953	G	C	123225953	5	2	323	1	0	0	0	0	0	0	1	0	8208	1246	43	3	9701	3	KIAA1109	4	123225953	Splice_Site	SNP	G	TCGA-29-1691-01A-01W-0633-09	33190621	123225953	67928323	56	17168											
ZNF827	152485	genome.wustl.edu	37	4	146859537	146859537	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr4:146859537T>C	ENST00000508784.1	-	1	250	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	ZNF827_ENST00000513320.1_Missense_Mutation_p.Q8R|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q8R			Q17R98	ZN827_HUMAN	zinc finger protein 827	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCGCTTGGGCTGCTCCTGCTT	0.572																																																0			4											311	231	258					4																	146859537		2203	4300	6503	147078987	SO:0001583	missense	152485			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.23A>G	4.37:g.146859537T>C	ENSP00000421863:p.Gln8Arg		147078987	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37		.	.	.	.	.	.	.	.	.	.	t	11.73	1.724486	0.30593	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000440280	T;T;T	0.07327	3.2;3.27;3.24	4.39	3.19	0.36642	.	0.547807	0.17677	U	0.165760	T	0.12178	0.0296	N	0.14661	0.345	0.29346	N	0.865704	B;P;P	0.51449	0.0;0.909;0.945	B;P;D	0.67900	0.0;0.901;0.954	T	0.05162	-1.0902	10	0.59425	D	0.04	.	8.2817	0.31904	0.0:0.0992:0.0:0.9008	.	8;8;8	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	R	8	ENSP00000421863:Q8R;ENSP00000423130:Q8R;ENSP00000368761:Q8R	ENSP00000368761:Q8R	Q	-	2	0	ZNF827	147078987	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.382000	0.66213	0.661000	0.30985	0.228000	0.17796	CAG		0.572	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		C	146859537	T	C	146859537	3	2	323	1	0	0	0	0	1	0	0	0	18180	1580	55	4	3262	4	ZNF827	4	146859537	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	23633584	146859537	44294739	57	17169											
TAS2R1	50834	genome.wustl.edu	37	5	9629406	9629406	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:9629406G>T	ENST00000382492.2	-	1	1057	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	247					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGAGAAGAGAGAAAAACTTTT	0.458																																																0			5											79	85	83					5																	9629406		2203	4300	6503	9682406	SO:0001583	missense	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.739C>A	5.37:g.9629406G>T	ENSP00000371932:p.Leu247Ile		9682406	Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	6.601	0.479354	0.12581	.	.	ENSG00000169777	ENST00000382492	T	0.00700	5.82	5.55	-8.35	0.00984	.	2.044220	0.02617	N	0.102817	T	0.00580	0.0019	L	0.28458	0.855	0.09310	N	1	B	0.25772	0.134	B	0.24848	0.056	T	0.47923	-0.9079	9	.	.	.	.	0.3038	0.00277	0.311:0.2606:0.1567:0.2717	.	247	Q9NYW7	TA2R1_HUMAN	I	247	ENSP00000371932:L247I	.	L	-	1	0	TAS2R1	9682406	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.433000	0.00472	-1.509000	0.01798	-0.165000	0.13383	CTC		0.458	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			T	9629406	G	T	9629406	3	4	323	1	0	0	0	0	1	0	0	0	15565	942	33	3	164	3	TAS2R1	5	9629406	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09		9629406	171285854	58	17170											
C5orf28	64417	genome.wustl.edu	37	5	43453800	43453800	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:43453800T>C	ENST00000500337.2	-	4	603	c.272A>G	c.(271-273)gAt>gGt	p.D91G	C5orf28_ENST00000512085.1_Missense_Mutation_p.D91G|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000510130.1_Intron|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000397080.3_Missense_Mutation_p.D91G			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	91						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					GTGGTCTACATCAATAACAGA	0.368																																																0			5											84	86	85					5																	43453800		2203	4300	6503	43489557	SO:0001583	missense	64417			AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.272A>G	5.37:g.43453800T>C	ENSP00000426067:p.Asp91Gly		43489557	B2RDA6|Q9H6Z2	Missense_Mutation	SNP	ENST00000500337.2	37	CCDS3945.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581172	0.86748	.	.	ENSG00000151881	ENST00000500337;ENST00000397080;ENST00000512085;ENST00000506860	.	.	.	5.36	5.36	0.76844	.	0.099165	0.64402	D	0.000001	D	0.83972	0.5370	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87118	0.2189	9	0.87932	D	0	-9.7523	15.7086	0.77606	0.0:0.0:0.0:1.0	.	91	Q0VDI3	CE028_HUMAN	G	91	.	ENSP00000380270:D91G	D	-	2	0	C5orf28	43489557	1.000000	0.71417	0.924000	0.36721	0.996000	0.88848	7.630000	0.83225	2.173000	0.68751	0.454000	0.30748	GAT		0.368	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		C	43453800	T	C	43453800	3	2	323	1	0	0	0	0	1	0	0	0	2289	1435	50	4	383	4	C5orf28	5	43453800	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	33824394	43453800	137461460	59	17171											
ACOT12	134526	genome.wustl.edu	37	5	80659643	80659643	+	Silent	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:80659643G>A	ENST00000307624.3	-	4	352	c.324C>T	c.(322-324)ttC>ttT	p.F108F	ACOT12_ENST00000513751.1_Silent_p.F108F	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	108	Acyl coenzyme A hydrolase 1.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAAATGTGGAGAAAGCCACAC	0.353																																																0			5											113	109	110					5																	80659643		2203	4300	6503	80695399	SO:0001819	synonymous_variant	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.324C>T	5.37:g.80659643G>A			80695399	B3KVK9|Q5FWE9	Silent	SNP	ENST00000307624.3	37	CCDS4055.1																																																																																				0.353	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		A	80659643	G	A	80659643	2	1	323	1	0	0	0	0	0	0	0	1	150	933	33	2		2	ACOT12	5	80659643	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09	37205843	80659643	100255617	60	17172											
APC	324	genome.wustl.edu	37	5	112174469	112174469	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:112174469A>G	ENST00000457016.1	+	16	3558	c.3178A>G	c.(3178-3180)Ata>Gta	p.I1060V	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.I1060V|APC_ENST00000508376.2_Missense_Mutation_p.I1060V			P25054	APC_HUMAN	adenomatous polyposis coli	1060	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAGATGAAATAAAACAAAG	0.358		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)	5											69	66	67					5																	112174469		2202	4300	6502	112202368	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3178A>G	5.37:g.112174469A>G	ENSP00000413133:p.Ile1060Val		112202368	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	9.673	1.147349	0.21288	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93133	-2.43;-3.17;-2.43;-2.43;-2.61	5.61	4.38	0.52667	.	0.396562	0.31519	N	0.007503	D	0.83709	0.5313	N	0.14661	0.345	0.29512	N	0.854168	B;B	0.17465	0.022;0.022	B;B	0.12156	0.007;0.007	T	0.68428	-0.5411	10	0.02654	T	1	-8.2844	12.3737	0.55269	0.8594:0.1406:0.0:0.0	.	1062;1060	Q4LE70;P25054	.;APC_HUMAN	V	1060;1042;1060;1060;1060	ENSP00000413133:I1060V;ENSP00000423224:I1042V;ENSP00000257430:I1060V;ENSP00000427089:I1060V;ENSP00000423828:I1060V	ENSP00000257430:I1060V	I	+	1	0	APC	112202368	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.606000	0.54095	2.146000	0.66826	0.533000	0.62120	ATA		0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112174469	A	G	112174469	3	3	323	1	0	0	0	0	1	0	0	0	763	101	4	4	3236	4	APC	5	112174469	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	31514826	112174469	68740791	61	17173											
PDE6A	5145	genome.wustl.edu	37	5	149245735	149245735	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:149245735T>C	ENST00000255266.5	-	20	2475	c.2356A>G	c.(2356-2358)Aag>Gag	p.K786E		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	786					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GGGCCTACCTTGTAGACGAAG	0.478																																																0			5											127	117	121					5																	149245735		2203	4300	6503	149225928	SO:0001583	missense	5145				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2356A>G	5.37:g.149245735T>C	ENSP00000255266:p.Lys786Glu		149225928	Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814527	0.90790	.	.	ENSG00000132915	ENST00000255266	T	0.74209	-0.82	5.22	5.22	0.72569	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	N	0.21508	0.67	0.58432	D	0.999997	D	0.57899	0.981	P	0.60415	0.874	T	0.70077	-0.4971	10	0.22706	T	0.39	.	13.053	0.58964	0.0:0.0:0.0:1.0	.	786	P16499	PDE6A_HUMAN	E	786	ENSP00000255266:K786E	ENSP00000255266:K786E	K	-	1	0	PDE6A	149225928	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.338000	0.79269	1.969000	0.57287	0.379000	0.24179	AAG		0.478	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			C	149245735	T	C	149245735	3	2	323	1	0	0	0	0	1	0	0	0	11645	1821	63	4	238	4	PDE6A	5	149245735	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	37071266	149245735	31669525	62	17174											
HMMR	3161	genome.wustl.edu	37	5	162910280	162910280	+	Silent	SNP	T	T	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:162910280T>A	ENST00000358715.3	+	15	1725	c.1689T>A	c.(1687-1689)gcT>gcA	p.A563A	RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Silent_p.A564A|HMMR_ENST00000353866.3_Silent_p.A548A|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Silent_p.A477A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	563					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GCAGAAAAGCTGAAAAAGAAA	0.303																																																0			5											41	45	44					5																	162910280		2184	4287	6471	162842858	SO:0001819	synonymous_variant	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1689T>A	5.37:g.162910280T>A			162842858	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	ENST00000358715.3	37	CCDS4362.1																																																																																				0.303	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		A	162910280	T	A	162910280	2	1	323	1	0	0	0	0	0	0	0	1	7242	1567	55	5		5	HMMR	5	162910280	Silent	SNP	T	TCGA-29-1691-01A-01W-0633-09	13664545	162910280	18004980	63	17175											
GPRIN1	114787	genome.wustl.edu	37	5	176026542	176026542	+	Silent	SNP	G	G	A	rs531996464		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:176026542G>A	ENST00000303991.4	-	2	471	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	98					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGAGAGAAGCAGGTTGGGG	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		17251	0		0	False		,,,				2504	0															0			5											40	44	43					5																	176026542		2203	4300	6503	175959148	SO:0001819	synonymous_variant	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.294C>T	5.37:g.176026542G>A			175959148	C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	37	CCDS4405.1																																																																																				0.647	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		A	176026542	G	A	176026542	2	1	323	1	0	0	0	0	0	0	0	1	6729	963	34	2		2	GPRIN1	5	176026542	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09	13116262	176026542	4888718	64	17176											
NSD1	64324	genome.wustl.edu	37	5	176715818	176715818	+	Splice_Site	SNP	A	A	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:176715818A>C	ENST00000439151.2	+	21	6196		c.e21-1		NSD1_ENST00000354179.4_Splice_Site|NSD1_ENST00000347982.4_Splice_Site|NSD1_ENST00000361032.4_Splice_Site	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTCTTATGCAGGCACTGAAC	0.368			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			5											124	123	123					5																	176715818		2203	4300	6503	176648424	SO:0001630	splice_region_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6152-1A>C	5.37:g.176715818A>C			176648424	Q96PD8|Q96RN7	Splice_Site	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254874	0.80135	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5422	0.76062	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NSD1	176648424	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.268000	0.95675	2.145000	0.66743	0.533000	0.62120	.		0.368	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	Intron	C	176715818	A	C	176715818	5	2	323	1	0	0	0	0	0	0	1	0	10669	202	7	5	6228	5	NSD1	5	176715818	Splice_Site	SNP	A	TCGA-29-1691-01A-01W-0633-09	689276	176715818	4199442	65	17177											
DBN1	1627	genome.wustl.edu	37	5	176899146	176899146	+	Intron	SNP	G	G	A	rs369476395		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:176899146G>A	ENST00000309007.5	-	1	306				DBN1_ENST00000393565.1_Intron|DBN1_ENST00000292385.5_Silent_p.R22R	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1						actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			CTTGTCTCTCGCGTCCATCCC	0.657																																																0			5						G	,	2,4404	4.2+/-10.8	0,2,2201	53	50	51		,66	-4.9	0.4	5		51	0,8600		0,0,4300	no	intron,coding-synonymous	DBN1	NM_004395.3,NM_080881.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	,22/652	176899146	2,13004	2203	4300	6503	176831752	SO:0001627	intron_variant	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.86+1290C>T	5.37:g.176899146G>A			176831752	A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	CCDS4420.1																																																																																				0.657	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		A	176899146	G	A	176899146	1	1	323	0	1	0	0	0	0	0	0	0	4252	1074	38	1		1	DBN1	5	176899146	Intron	SNP	G	TCGA-29-1691-01A-01W-0633-09	183328	176899146	4016114	66	17178											
COL23A1	91522	genome.wustl.edu	37	5	177682004	177682004	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr5:177682004C>A	ENST00000390654.3	-	16	1263	c.906G>T	c.(904-906)gaG>gaT	p.E302D	COL23A1_ENST00000407622.1_Missense_Mutation_p.A301S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	302	Collagen-like 2.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TGTCTCCCTGCTCGCCCTTGA	0.537																																																0			5											196	195	195					5																	177682004		2034	4208	6242	177614610	SO:0001583	missense	91522			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.906G>T	5.37:g.177682004C>A	ENSP00000375069:p.Glu302Asp		177614610	Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	CCDS4436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.222489|2.222489	0.39300|0.39300	.|.	.|.	ENSG00000050767|ENSG00000050767	ENST00000407622|ENST00000390654	D|T	0.90620|0.26518	-2.7|1.73	4.19|4.19	0.217|0.217	0.15264|0.15264	.|.	.|0.289830	.|0.28476	.|N	.|0.015204	T|T	0.19886|0.19886	0.0478|0.0478	L|L	0.47016|0.47016	1.485|1.485	0.09310|0.09310	N|N	0.999998|0.999998	.|B	.|0.32968	.|0.392	.|B	.|0.40982	.|0.345	T|T	0.17776|0.17776	-1.0358|-1.0358	7|10	0.18710|0.18710	T|T	0.47|0.47	-14.9006|-14.9006	3.1041|3.1041	0.06336|0.06336	0.189:0.4831:0.0:0.3278|0.189:0.4831:0.0:0.3278	.|.	.|302	.|Q86Y22	.|CONA1_HUMAN	S|D	301|302	ENSP00000385092:A301S|ENSP00000375069:E302D	ENSP00000385092:A301S|ENSP00000375069:E302D	A|E	-|-	1|3	0|2	COL23A1|COL23A1	177614610|177614610	0.934000|0.934000	0.31675|0.31675	0.976000|0.976000	0.42696|0.42696	0.842000|0.842000	0.47809|0.47809	-0.218000|-0.218000	0.09240|0.09240	-0.074000|-0.074000	0.12820|0.12820	-0.140000|-0.140000	0.14226|0.14226	GCA|GAG		0.537	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		A	177682004	C	A	177682004	3	1	323	1	0	0	0	0	1	0	0	0	3682	796	28	3	772	3	COL23A1	5	177682004	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	782858	177682004	3233256	67	17179											
ANKS1A	23294	genome.wustl.edu	37	6	34962178	34962178	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr6:34962178T>G	ENST00000360359.3	+	10	1540	c.1402T>G	c.(1402-1404)Ttg>Gtg	p.L468V	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	468					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAAGTGGTGTTGGTGGATGG	0.468																																																0			6											155	143	147					6																	34962178		2203	4300	6503	35070156	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1402T>G	6.37:g.34962178T>G	ENSP00000353518:p.Leu468Val		35070156	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	T	7.700	0.692912	0.15039	.	.	ENSG00000064999	ENST00000360359	T	0.41065	1.01	5.49	-0.304	0.12788	.	0.790812	0.10683	N	0.646168	T	0.07143	0.0181	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31110	-0.9955	10	0.56958	D	0.05	-2.4165	3.2552	0.06828	0.1203:0.0839:0.3998:0.396	.	468	Q92625	ANS1A_HUMAN	V	468	ENSP00000353518:L468V	ENSP00000353518:L468V	L	+	1	2	ANKS1A	35070156	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	0.152000	0.16302	0.311000	0.23014	0.460000	0.39030	TTG		0.468	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		G	34962178	T	G	34962178	3	3	323	1	0	0	0	0	1	0	0	0	688	1722	60	5	1440	5	ANKS1A	6	34962178	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09		34962178	136152889	68	17180											
C6orf138	442213	genome.wustl.edu	37	6	48036193	48036193	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr6:48036193C>T	ENST00000339488.4	-	1	232	c.199G>A	c.(199-201)Gag>Aag	p.E67K	PTCHD4_ENST00000543600.1_Missense_Mutation_p.E50K	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	67						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AGGTCGCCCTCGGGCTGGAAG	0.662																																																0			6											30	34	32					6																	48036193		1976	4164	6140	48144152	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.199G>A	6.37:g.48036193C>T	ENSP00000341914:p.Glu67Lys		48144152	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.67|17.67	3.447249|3.447249	0.63178|0.63178	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;T|.	0.93019|.	-3.15;0.48|.	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66694|0.66694	0.2815|0.2815	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P;P|.	0.44044|.	0.649;0.825|.	B;B|.	0.29663|.	0.097;0.105|.	T|T	0.67381|0.67381	-0.5685|-0.5685	10|5	0.40728|.	T|.	0.16|.	.|.	17.3669|17.3669	0.87366|0.87366	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	67;50|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	K|Q	67;50|66	ENSP00000341914:E67K;ENSP00000439864:E50K|.	ENSP00000341914:E67K|.	E|R	-|-	1|2	0|0	C6orf138|C6orf138	48144152|48144152	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.387000|7.387000	0.79785|0.79785	2.071000|2.071000	0.62044|0.62044	0.545000|0.545000	0.68477|0.68477	GAG|CGA		0.662	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		T	48036193	C	T	48036193	3	4	323	1	0	0	0	0	1	0	0	0	2332	893	31	1	2353	1	C6orf138	6	48036193	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	13074015	48036193	123078874	69	17181											
COL9A1	1297	genome.wustl.edu	37	6	71011706	71011706	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr6:71011706G>T	ENST00000357250.6	-	2	244	c.86C>A	c.(85-87)cCc>cAc	p.P29H	COL9A1_ENST00000370496.3_Missense_Mutation_p.P29H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	29	Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GCCCTTACTGGGGCGACGCTT	0.458																																																0			6											40	41	41					6																	71011706		2203	4300	6503	71068427	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.86C>A	6.37:g.71011706G>T	ENSP00000349790:p.Pro29His		71068427	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032596	0.75504	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	D;D	0.91124	-2.46;-2.79	6.07	5.16	0.70880	.	0.359580	0.27558	N	0.018839	T	0.82139	0.4972	N	0.24115	0.695	0.80722	D	1	P	0.37955	0.612	B	0.40101	0.319	T	0.83349	-0.0004	10	0.42905	T	0.14	.	17.4183	0.87507	0.0:0.134:0.866:0.0	.	29	P20849	CO9A1_HUMAN	H	29	ENSP00000349790:P29H;ENSP00000359527:P29H	ENSP00000349790:P29H	P	-	2	0	COL9A1	71068427	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.592000	0.53993	2.884000	0.98904	0.655000	0.94253	CCC		0.458	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			T	71011706	G	T	71011706	3	4	323	1	0	0	0	0	1	0	0	0	3707	1232	43	3	2903	3	COL9A1	6	71011706	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	22975513	71011706	100103361	70	17182											
SYNE1	23345	genome.wustl.edu	37	6	152826375	152826375	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr6:152826375C>T	ENST00000367255.5	-	9	1340	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	SYNE1_ENST00000413186.2_Missense_Mutation_p.E247K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E247K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E247K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E254K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E247K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E254K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E254K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E247K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	247	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTCTGTTTCGGCGATAGTG	0.433										HNSCC(10;0.0054)																																						0			6											141	129	133					6																	152826375		2203	4300	6503	152868068	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.739G>A	6.37:g.152826375C>T	ENSP00000356224:p.Glu247Lys		152868068	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124421	0.77436	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.74	5.74	0.90152	Calponin homology domain (5);	0.000000	0.64402	D	0.000006	D	0.97623	0.9221	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.97;1.0;1.0	D;D;P;D;D	0.79108	0.966;0.992;0.642;0.992;0.99	D	0.97825	1.0259	10	0.87932	D	0	.	19.994	0.97377	0.0:1.0:0.0:0.0	.	247;247;247;247;254	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	247;254;247;254;247;247;254;247;247;247	ENSP00000356224:E247K;ENSP00000396024:E254K;ENSP00000265368:E247K;ENSP00000390975:E254K;ENSP00000341887:E247K;ENSP00000356222:E247K;ENSP00000356217:E254K;ENSP00000414510:E247K;ENSP00000446021:E247K;ENSP00000441264:E247K	ENSP00000265368:E247K	E	-	1	0	SYNE1	152868068	1.000000	0.71417	0.347000	0.25668	0.046000	0.14306	7.818000	0.86416	2.735000	0.93741	0.638000	0.83543	GAA		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152826375	C	T	152826375	3	4	323	1	0	0	0	0	1	0	0	0	15445	893	31	1	26279	1	SYNE1	6	152826375	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	81814669	152826375	18288692	71	17183											
PHF14	9678	genome.wustl.edu	37	7	11022425	11022425	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr7:11022425C>T	ENST00000403050.3	+	3	991	c.539C>T	c.(538-540)cCa>cTa	p.P180L	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	180					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCAGCGAGCCAAAAAAATGG	0.493																																																0			7											90	89	90					7																	11022425		2025	4199	6224	10988950	SO:0001583	missense	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.539C>T	7.37:g.11022425C>T	ENSP00000385795:p.Pro180Leu		10988950	A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552791	0.65425	.	.	ENSG00000106443	ENST00000403050	T	0.75260	-0.92	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.80763	-0.1237	10	0.52906	T	0.07	.	18.7138	0.91668	0.0:1.0:0.0:0.0	.	180;180	A8MSQ1;O94880	.;PHF14_HUMAN	L	180	ENSP00000385795:P180L	ENSP00000385795:P180L	P	+	2	0	PHF14	10988950	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.651000	0.83577	2.641000	0.89580	0.585000	0.79938	CCA		0.493	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		T	11022425	C	T	11022425	3	4	323	1	0	0	0	0	1	0	0	0	11825	594	21	2	549	2	PHF14	7	11022425	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09		11022425	148116238	72	17184											
DNAH11	8701	genome.wustl.edu	37	7	21584750	21584750	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr7:21584750T>C	ENST00000409508.3	+	2	509	c.478T>C	c.(478-480)Tct>Cct	p.S160P	DNAH11_ENST00000328843.6_Missense_Mutation_p.S160P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	160	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGACATGTATCTGCTTTCCT	0.333									Kartagener syndrome																																							0			7											72	68	69					7																	21584750		1837	4093	5930	21551275	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.478T>C	7.37:g.21584750T>C	ENSP00000475939:p.Ser160Pro		21551275	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	T	8.713	0.912518	0.17907	.	.	ENSG00000105877	ENST00000328843	T	0.24908	1.83	5.6	3.22	0.36961	.	0.514735	0.21161	N	0.079146	T	0.16727	0.0402	L	0.35854	1.095	0.29494	N	0.855439	B	0.02656	0.0	B	0.01281	0.0	T	0.14587	-1.0467	10	0.31617	T	0.26	.	4.6042	0.12368	0.7114:0.0:0.0946:0.1941	.	160	Q96DT5	DYH11_HUMAN	P	160	ENSP00000330671:S160P	ENSP00000330671:S160P	S	+	1	0	DNAH11	21551275	0.992000	0.36948	0.980000	0.43619	0.254000	0.26022	1.369000	0.34227	0.496000	0.27904	0.533000	0.62120	TCT		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		C	21584750	T	C	21584750	3	2	323	1	0	0	0	0	1	0	0	0	4599	1435	50	4	484	4	DNAH11	7	21584750	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	10562325	21584750	137553913	73	17185											
NFE2L3	9603	genome.wustl.edu	37	7	26224693	26224693	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr7:26224693C>G	ENST00000056233.3	+	4	1634	c.1375C>G	c.(1375-1377)Cat>Gat	p.H459D		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	459					transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TAGTTCCCATCATGACTTAGA	0.413																																																0			7											166	170	169					7																	26224693		2203	4300	6503	26191218	SO:0001583	missense	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1375C>G	7.37:g.26224693C>G	ENSP00000056233:p.His459Asp		26191218	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	0.550	-0.849708	0.02651	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.28255	1.62	4.97	-0.768	0.11013	.	0.432757	0.26390	N	0.024650	T	0.13841	0.0335	N	0.16602	0.42	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.27773	-1.0064	10	0.15952	T	0.53	-0.8328	7.627	0.28218	0.0:0.3219:0.4651:0.213	.	459	Q9Y4A8	NF2L3_HUMAN	D	459;165	ENSP00000056233:H459D	ENSP00000056233:H459D	H	+	1	0	NFE2L3	26191218	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.127000	0.10547	-0.045000	0.13468	-0.324000	0.08512	CAT		0.413	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			G	26224693	C	G	26224693	3	3	323	1	0	0	0	0	1	0	0	0	10369	826	29	3	1389	3	NFE2L3	7	26224693	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	4639943	26224693	132913970	74	17186											
HUS1	3364	genome.wustl.edu	37	7	48018116	48018116	+	Silent	SNP	C	C	T	rs369316512		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr7:48018116C>T	ENST00000258774.5	-	3	278	c.255G>A	c.(253-255)tcG>tcA	p.S85S	HUS1_ENST00000432325.1_Silent_p.S64S	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	85					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ATAAGTTTTCCGATGTTAGCT	0.428								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)											0			7						C		0,4406		0,0,2203	86	81	83		255	-2.5	0.2	7		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HUS1	NM_004507.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		85/281	48018116	1,13005	2203	4300	6503	47984641	SO:0001819	synonymous_variant	3364			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.255G>A	7.37:g.48018116C>T			47984641	B4DFI9	Silent	SNP	ENST00000258774.5	37	CCDS34635.1																																																																																				0.428	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		T	48018116	C	T	48018116	2	4	323	1	0	0	0	0	0	0	0	1	7459	639	23	1		1	HUS1	7	48018116	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	21793423	48018116	111120547	75	17187											
HIP1	3092	genome.wustl.edu	37	7	75192534	75192534	+	Silent	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr7:75192534C>T	ENST00000336926.6	-	10	863	c.837G>A	c.(835-837)ctG>ctA	p.L279L	HIP1_ENST00000434438.2_Silent_p.L279L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	279					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGAAGTACTGCAGGTTGCTGG	0.577			T	PDGFRB	CMML																																		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0			7											78	72	74					7																	75192534		2203	4300	6503	75030470	SO:0001819	synonymous_variant	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.837G>A	7.37:g.75192534C>T			75030470	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	CCDS34669.1																																																																																				0.577	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		T	75192534	C	T	75192534	2	4	323	1	0	0	0	0	0	0	0	1	7114	697	25	2		2	HIP1	7	75192534	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	27174418	75192534	83946129	76	17188											
PLXNA4	91584	genome.wustl.edu	37	7	131910930	131910930	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr7:131910930C>T	ENST00000359827.3	-	8	2934	c.1972G>A	c.(1972-1974)Gtc>Atc	p.V658I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V658I			Q9HCM2	PLXA4_HUMAN	plexin A4	658	PSI 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAATTGTGGACGCTGCAATTG	0.517																																																0			7											137	137	137					7																	131910930		1985	4169	6154	131561470	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1972G>A	7.37:g.131910930C>T	ENSP00000352882:p.Val658Ile		131561470	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840054	0.91117	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.17528	2.27;2.27	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	L	0.60455	1.87	0.80722	D	1	D	0.56287	0.975	P	0.49226	0.603	T	0.00595	-1.1653	10	0.36615	T	0.2	.	19.2008	0.93711	0.0:1.0:0.0:0.0	.	658	Q9HCM2	PLXA4_HUMAN	I	658	ENSP00000323194:V658I;ENSP00000352882:V658I	ENSP00000323194:V658I	V	-	1	0	PLXNA4	131561470	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	7.755000	0.85180	2.722000	0.93159	0.655000	0.94253	GTC		0.517	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131910930	C	T	131910930	3	4	323	1	0	0	0	0	1	0	0	0	12122	536	19	1	3812	1	PLXNA4	7	131910930	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	56718396	131910930	27227733	77	17189											
MLL3	58508	genome.wustl.edu	37	7	151860200	151860200	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr7:151860200T>A	ENST00000262189.6	-	43	10680	c.10462A>T	c.(10462-10464)Ata>Tta	p.I3488L	KMT2C_ENST00000355193.2_Missense_Mutation_p.I3488L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3488	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTTGTTGTATATTCTGCTGC	0.463																																																0			7											137	137	137					7																	151860200		2203	4300	6503	151491133	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10462A>T	7.37:g.151860200T>A	ENSP00000262189:p.Ile3488Leu		151491133	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.906|2.906	-0.226480|-0.226480	0.06022|0.06022	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.87729|.	-1.53;-1.54;-2.29|.	5.09|5.09	-3.82|-3.82	0.04281|0.04281	.|.	1.027110|.	0.07809|.	N|.	0.957870|.	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.03324|0.03324	-0.35|-0.35	0.42308|0.42308	D|D	0.992204|0.992204	B;B;B|.	0.06786|.	0.0;0.001;0.0|.	B;B;B|.	0.08055|.	0.001;0.003;0.0|.	T|T	0.09640|0.09640	-1.0665|-1.0665	10|5	0.25106|.	T|.	0.35|.	.|.	8.5989|8.5989	0.33732|0.33732	0.0:0.2549:0.493:0.252|0.0:0.2549:0.493:0.252	.|.	3488;2549;3488|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	L|F	3488;3488;74|993	ENSP00000262189:I3488L;ENSP00000347325:I3488L;ENSP00000410411:I74L|.	ENSP00000262189:I3488L|.	I|Y	-|-	1|2	0|0	MLL3|MLL3	151491133|151491133	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-0.216000|-0.216000	0.09266|0.09266	-0.557000|-0.557000	0.06126|0.06126	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151860200	T	A	151860200	3	1	323	1	0	0	0	0	1	0	0	0	9622	1406	49	5	4341	5	MLL3	7	151860200	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	19949270	151860200	7278463	78	17190											
CSMD1	64478	genome.wustl.edu	37	8	2875999	2875999	+	Splice_Site	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr8:2875999C>A	ENST00000520002.1	-	53	8587	c.8032G>T	c.(8032-8034)Gct>Tct	p.A2678S	CSMD1_ENST00000602557.1_Splice_Site_p.A2678S|CSMD1_ENST00000537824.1_Splice_Site_p.A2677S|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2678	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		ATGAATTTACCCAGACATCGA	0.438																																																0			8											174	170	172					8																	2875999		1936	4145	6081	2863406	SO:0001630	splice_region_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.8032+1G>T	8.37:g.2875999C>A			2863406	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.076911|4.076911	0.76415|0.76415	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.25749|.	1.78;1.78|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Complement control module (2);Sushi/SCR/CCP (1);|.	0.293641|.	0.31697|.	N|.	0.007220|.	D|D	0.83041|0.83041	0.5168|0.5168	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;B|.	0.63880|.	0.993;0.248|.	P;B|.	0.59487|.	0.858;0.146|.	D|D	0.84785|0.84785	0.0775|0.0775	9|5	.|.	.|.	.|.	.|.	19.0734|19.0734	0.93150|0.93150	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2678;2678|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	S|V	2678;2539;2677|2094	ENSP00000430733:A2678S;ENSP00000441462:A2677S|.	.|.	A|G	-|-	1|2	0|0	CSMD1|CSMD1	2863406|2863406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	7.612000|7.612000	0.82975|0.82975	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Missense_Mutation	A	2875999	C	A	2875999	5	1	323	1	0	0	0	0	0	0	1	0	3944	637	22	3	2741	3	CSMD1	8	2875999	Splice_Site	SNP	C	TCGA-29-1691-01A-01W-0633-09		2875999	143488023	79	17191											
PRSS55	203074	genome.wustl.edu	37	8	10389015	10389015	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr8:10389015G>T	ENST00000328655.3	+	3	598	c.558G>T	c.(556-558)tgG>tgT	p.W186C	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.W186C	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	186	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CTGCCACATGGCGCGAATGCT	0.607																																																0			8											58	55	56					8																	10389015		2203	4300	6503	10426425	SO:0001583	missense	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.558G>T	8.37:g.10389015G>T	ENSP00000333003:p.Trp186Cys		10426425	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557757	0.65425	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88586	-2.4;-2.4	4.98	4.98	0.66077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.32719	N	0.005728	D	0.92951	0.7757	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92496	0.6004	10	0.49607	T	0.09	.	14.4796	0.67573	0.0:0.0:1.0:0.0	.	186	Q6UWB4	PRS55_HUMAN	C	186	ENSP00000333003:W186C;ENSP00000430459:W186C	ENSP00000333003:W186C	W	+	3	0	PRSS55	10426425	1.000000	0.71417	0.822000	0.32727	0.016000	0.09150	6.127000	0.71642	2.684000	0.91462	0.655000	0.94253	TGG		0.607	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		T	10389015	G	T	10389015	3	4	323	1	0	0	0	0	1	0	0	0	12637	1212	42	3	568	3	PRSS55	8	10389015	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	7513016	10389015	135975007	80	17192											
PSD3	23362	genome.wustl.edu	37	8	18725468	18725468	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr8:18725468G>T	ENST00000327040.8	-	4	1452	c.1350C>A	c.(1348-1350)gaC>gaA	p.D450E	PSD3_ENST00000523619.1_Missense_Mutation_p.D385E|PSD3_ENST00000440756.2_Missense_Mutation_p.D450E	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	450					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AAGAAGTGTTGTCCAAAATGG	0.463																																																0			8											129	126	127					8																	18725468		1938	4151	6089	18769748	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1350C>A	8.37:g.18725468G>T	ENSP00000324127:p.Asp450Glu		18769748	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812883	0.32053	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.06687	3.27;3.27;3.27	5.18	1.9	0.25705	.	0.080094	0.50627	N	0.000113	T	0.05044	0.0135	L	0.32530	0.975	0.25194	N	0.990102	B	0.19817	0.039	B	0.19666	0.026	T	0.42916	-0.9423	10	0.09084	T	0.74	.	5.7341	0.18057	0.4486:0.0:0.5514:0.0	.	450	E9KL50	.	E	450;450;385	ENSP00000324127:D450E;ENSP00000401704:D450E;ENSP00000430640:D385E	ENSP00000324127:D450E	D	-	3	2	PSD3	18769748	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.470000	0.45119	0.697000	0.31718	-0.237000	0.12165	GAC		0.463	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		T	18725468	G	T	18725468	3	4	323	1	0	0	0	0	1	0	0	0	12651	1368	48	3	1881	3	PSD3	8	18725468	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	8336453	18725468	127638554	81	17193											
VDAC3	7419	genome.wustl.edu	37	8	42260891	42260891	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr8:42260891C>A	ENST00000022615.4	+	8	682	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	VDAC3_ENST00000521158.1_Missense_Mutation_p.S206Y|VDAC3_ENST00000392935.3_Missense_Mutation_p.S206Y|VDAC3_ENST00000522572.1_Intron			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	205					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	ATTGAAACATCCATAAACCTT	0.403																																																0			8											198	173	181					8																	42260891		2203	4300	6503	42380048	SO:0001583	missense	7419			AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.614C>A	8.37:g.42260891C>A	ENSP00000022615:p.Ser205Tyr		42380048	Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264312	0.95399	.	.	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.42900	0.96;0.96;0.96	5.73	5.73	0.89815	.	0.058092	0.64402	D	0.000001	T	0.61451	0.2348	M	0.68952	2.095	0.80722	D	1	D	0.61697	0.99	P	0.60541	0.876	T	0.62728	-0.6793	10	0.87932	D	0	-8.5242	17.7591	0.88459	0.0:1.0:0.0:0.0	.	205	Q9Y277	VDAC3_HUMAN	Y	206;206;205	ENSP00000442811:S206Y;ENSP00000428845:S206Y;ENSP00000022615:S205Y	ENSP00000022615:S205Y	S	+	2	0	VDAC3	42380048	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	7.776000	0.85560	2.854000	0.98071	0.655000	0.94253	TCC		0.403	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			A	42260891	C	A	42260891	3	1	323	1	0	0	0	0	1	0	0	0	17148	855	30	3	639	3	VDAC3	8	42260891	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	23535423	42260891	104103131	82	17194											
TRIM55	84675	genome.wustl.edu	37	8	67040639	67040639	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr8:67040639A>C	ENST00000315962.4	+	2	642	c.269A>C	c.(268-270)cAt>cCt	p.H90P	TRIM55_ENST00000276573.7_Missense_Mutation_p.H90P|TRIM55_ENST00000353317.5_Missense_Mutation_p.H90P|TRIM55_ENST00000350034.4_Missense_Mutation_p.H90P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	90					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTGGATAGACATGGGGTATAT	0.507																																																0			8											161	160	160					8																	67040639		2203	4300	6503	67203193	SO:0001583	missense	84675			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.269A>C	8.37:g.67040639A>C	ENSP00000323913:p.His90Pro		67203193	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902148	0.92035	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.38887	1.55;1.58;1.55;1.11	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.994;0.982	D;D;D;D	0.80764	0.994;0.983;0.966;0.926	T	0.70905	-0.4745	10	0.59425	D	0.04	.	16.1677	0.81782	1.0:0.0:0.0:0.0	.	90;90;90;90	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	P	90	ENSP00000323913:H90P;ENSP00000297348:H90P;ENSP00000276573:H90P;ENSP00000332302:H90P	ENSP00000276573:H90P	H	+	2	0	TRIM55	67203193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.218000	0.71995	0.528000	0.53228	CAT		0.507	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		C	67040639	A	C	67040639	3	2	323	1	0	0	0	0	1	0	0	0	16529	217	8	5	275	5	TRIM55	8	67040639	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	24779748	67040639	79323383	83	17195											
NCOA2	10499	genome.wustl.edu	37	8	71069270	71069270	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr8:71069270A>T	ENST00000452400.2	-	11	1511	c.1330T>A	c.(1330-1332)Tct>Act	p.S444T	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	444					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATTCCCCCAGAACCACCAAAC	0.502			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0			8											127	121	123					8																	71069270		1958	4145	6103	71231824	SO:0001583	missense	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1330T>A	8.37:g.71069270A>T	ENSP00000399968:p.Ser444Thr		71231824	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230404	0.39399	.	.	ENSG00000140396	ENST00000452400	T	0.01725	4.67	5.93	4.71	0.59529	.	0.052114	0.85682	D	0.000000	T	0.02304	0.0071	L	0.48642	1.525	0.80722	D	1	P	0.40431	0.717	B	0.35607	0.206	T	0.61287	-0.7093	10	0.45353	T	0.12	.	12.874	0.57980	0.8644:0.1356:0.0:0.0	.	444	Q15596	NCOA2_HUMAN	T	444	ENSP00000399968:S444T	ENSP00000399968:S444T	S	-	1	0	NCOA2	71231824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.259000	0.65485	2.263000	0.75096	0.533000	0.62120	TCT		0.502	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			T	71069270	A	T	71069270	3	4	323	1	0	0	0	0	1	0	0	0	10229	246	9	5	3116	5	NCOA2	8	71069270	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	4028631	71069270	75294752	84	17196											
KCNV1	27012	genome.wustl.edu	37	8	110984852	110984852	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr8:110984852G>A	ENST00000524391.1	-	3	1658	c.626C>T	c.(625-627)gCc>gTc	p.A209V	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.A209V			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	209					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AAAGATACGGGCAGCTGTGGA	0.517																																																0			8											97	90	92					8																	110984852		2203	4300	6503	111054028	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.626C>T	8.37:g.110984852G>A	ENSP00000435954:p.Ala209Val		111054028	Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505936	0.85282	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97598	-4.45;-4.45	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98036	0.9353	M	0.81942	2.565	0.58432	D	0.999996	D	0.67145	0.996	P	0.57679	0.825	D	0.98894	1.0774	10	0.87932	D	0	.	18.0477	0.89337	0.0:0.0:1.0:0.0	.	209	Q6PIU1	KCNV1_HUMAN	V	209;209;85	ENSP00000435954:A209V;ENSP00000297404:A209V	ENSP00000297404:A209V	A	-	2	0	KCNV1	111054028	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.565000	0.73974	2.499000	0.84300	0.557000	0.71058	GCC		0.517	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		A	110984852	G	A	110984852	3	1	323	1	0	0	0	0	1	0	0	0	8094	1203	42	2	884	2	KCNV1	8	110984852	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	39915582	110984852	35379170	85	17197											
OC90	729330	genome.wustl.edu	37	8	133053927	133053927	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr8:133053927G>T	ENST00000443356.2	-	5	275	c.189C>A	c.(187-189)ttC>ttA	p.F63L	OC90_ENST00000262283.5_Missense_Mutation_p.F259L|OC90_ENST00000254627.3_Missense_Mutation_p.F63L|OC90_ENST00000603859.1_Missense_Mutation_p.F63L			Q02509	OC90_HUMAN	otoconin 90	63					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCAGCCAGGTGAAGTGGGGGC	0.577																																																0			8											23	23	23					8																	133053927		1954	4141	6095	133123109	SO:0001583	missense	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.189C>A	8.37:g.133053927G>T	ENSP00000390050:p.Phe63Leu		133123109	B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.178121	0.78564	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.40476	1.08;1.1;1.03	5.73	4.67	0.58626	.	0.051447	0.85682	D	0.000000	T	0.51415	0.1673	L	0.36672	1.1	0.36278	D	0.855589	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.953	T	0.54330	-0.8310	10	0.37606	T	0.19	-29.997	12.8814	0.58020	0.0889:0.0:0.9111:0.0	.	63;63	Q02509-2;Q02509	.;OC90_HUMAN	L	63;63;259	ENSP00000254627:F63L;ENSP00000390050:F63L;ENSP00000262283:F259L	ENSP00000254627:F63L	F	-	3	2	RP11-240B13.2;OC90	133123109	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.206000	0.58473	2.714000	0.92807	0.591000	0.81541	TTC		0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		T	133053927	G	T	133053927	3	4	323	1	0	0	0	0	1	0	0	0	10814	1281	45	3	1284	3	OC90	8	133053927	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	22069075	133053927	13310095	86	17198											
ALG2	85365	genome.wustl.edu	37	9	101980334	101980334	+	Missense_Mutation	SNP	C	C	G	rs376229898		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr9:101980334C>G	ENST00000476832.1	-	2	1194	c.1133G>C	c.(1132-1134)cGt>cCt	p.R378P	ALG2_ENST00000319033.6_Missense_Mutation_p.R285P	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGAAGGTTCACGGATGAACTT	0.488																																																0			9											103	106	105					9																	101980334		2203	4300	6503	101020155	SO:0001583	missense	85365			AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"Glycosyltransferase group 1 domain containing"	23159	protein-coding gene	gene with protein product		607905	"asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.1133G>C	9.37:g.101980334C>G	ENSP00000417764:p.Arg378Pro		101020155	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439346	0.43326	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.76839	-1.05;-1.05	5.87	-1.21	0.09524	Glycosyl transferase, family 1 (1);	0.528955	0.22209	N	0.063125	T	0.78929	0.4361	M	0.62266	1.93	0.26640	N	0.9723	P;P	0.49635	0.926;0.506	P;B	0.54499	0.754;0.418	T	0.72228	-0.4354	10	0.34782	T	0.22	-16.6618	11.1905	0.48681	0.0:0.4574:0.0:0.5426	.	285;378	Q9H553-2;Q9H553	.;ALG2_HUMAN	P	378;285	ENSP00000417764:R378P;ENSP00000326609:R285P	ENSP00000432675:R285P	R	-	2	0	ALG2	101020155	0.010000	0.17322	0.209000	0.23619	0.995000	0.86356	-0.198000	0.09505	-0.020000	0.14032	-0.290000	0.09829	CGT		0.488	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		G	101980334	C	G	101980334	3	3	323	1	0	0	0	0	1	0	0	0	519	536	19	3	121	3	ALG2	9	101980334	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09		101980334	39233097	87	17199											
C9orf30	91283	genome.wustl.edu	37	9	103213045	103213045	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr9:103213045C>A	ENST00000395067.2	+	3	896	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000489377.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	209										endometrium(2)|lung(2)	4						GTCCATCTTACAACTGCAACT	0.418																																																0			9											89	74	79					9																	103213045		2203	4300	6503	102252866	SO:0001583	missense	91283			BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 30"	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.625C>A	9.37:g.103213045C>A	ENSP00000378506:p.Gln209Lys		102252866	B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397604	0.62177	.	.	ENSG00000066697	ENST00000395067	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.44912	0.1316	N	0.08118	0	0.80722	D	1	P	0.34587	0.458	B	0.39152	0.292	T	0.48570	-0.9024	8	0.42905	T	0.14	-11.5384	18.5024	0.90887	0.0:1.0:0.0:0.0	.	209	Q96H12	CI030_HUMAN	K	209	.	ENSP00000378506:Q209K	Q	+	1	0	C9orf30	102252866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.623000	0.54224	2.604000	0.88044	0.467000	0.42956	CAA		0.418	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		A	103213045	C	A	103213045	3	1	323	1	0	0	0	0	1	0	0	0	2478	479	17	3	631	3	C9orf30	9	103213045	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	1232711	103213045	38000386	88	17200											
SLC44A1	23446	genome.wustl.edu	37	9	108127850	108127850	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr9:108127850C>G	ENST00000374720.3	+	11	1587	c.1340C>G	c.(1339-1341)tCt>tGt	p.S447C	SLC44A1_ENST00000374723.1_Missense_Mutation_p.S447C|SLC44A1_ENST00000374724.1_Missense_Mutation_p.S447C|SLC44A1_ENST00000343170.7_Missense_Mutation_p.S239C	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	447					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCAAAAGGATCTTTCATTATC	0.363																																																0			9											126	116	119					9																	108127850		2203	4300	6503	107167671	SO:0001583	missense	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1340C>G	9.37:g.108127850C>G	ENSP00000363852:p.Ser447Cys		107167671	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081504	0.94050	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.82	5.82	0.92795	.	0.163418	0.56097	D	0.000033	D	0.82683	0.5090	M	0.92219	3.285	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.992	D;D;D	0.72625	0.978;0.978;0.924	D	0.86061	0.1532	10	0.87932	D	0	-9.3178	20.1064	0.97896	0.0:1.0:0.0:0.0	.	447;447;447	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	C	447;447;447;239	ENSP00000363855:S447C;ENSP00000363852:S447C;ENSP00000363856:S447C;ENSP00000341856:S239C	ENSP00000341856:S239C	S	+	2	0	SLC44A1	107167671	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.745000	0.94114	0.650000	0.86243	TCT		0.363	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		G	108127850	C	G	108127850	3	3	323	1	0	0	0	0	1	0	0	0	14638	913	32	3	1382	3	SLC44A1	9	108127850	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	4914805	108127850	33085581	89	17201											
DIP2C	22982	genome.wustl.edu	37	10	415516	415516	+	Silent	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr10:415516C>T	ENST00000280886.6	-	18	2136	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L	DIP2C_ENST00000540204.1_Silent_p.L4L|DIP2C_ENST00000381496.3_Silent_p.L576L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	683						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCCCATAGGTCAGTCCATGCA	0.572																																																0			10											111	102	105					10																	415516		2203	4300	6503	405516	SO:0001819	synonymous_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2049G>A	10.37:g.415516C>T			405516	B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1																																																																																				0.572	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	415516	C	T	415516	2	4	323	1	0	0	0	0	0	0	0	1	4529	813	29	2		2	DIP2C	10	415516	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09		415516	135119231	90	17202											
MCM10	55388	genome.wustl.edu	37	10	13222465	13222465	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr10:13222465A>G	ENST00000484800.2	+	7	894	c.791A>G	c.(790-792)gAa>gGa	p.E264G	MCM10_ENST00000378694.1_Missense_Mutation_p.E263G|MCM10_ENST00000378714.3_Missense_Mutation_p.E263G			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	264	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCCTCCACAGAAATGAACAAG	0.433																																																0			10											81	79	79					10																	13222465		2203	4300	6503	13262471	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.791A>G	10.37:g.13222465A>G	ENSP00000418268:p.Glu264Gly		13262471	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.917946	0.92249	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.17213	2.3;2.3;2.29	5.82	5.82	0.92795	.	0.046577	0.85682	D	0.000000	T	0.45276	0.1334	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.70487	0.969;0.96;0.913	T	0.41945	-0.9480	10	0.26408	T	0.33	-5.4569	16.1814	0.81903	1.0:0.0:0.0:0.0	.	263;263;264	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	G	263;264;264;263	ENSP00000367986:E263G;ENSP00000418268:E264G;ENSP00000367966:E263G	ENSP00000354945:E264G	E	+	2	0	MCM10	13262471	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.713000	0.91408	2.234000	0.73211	0.533000	0.62120	GAA		0.433	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		G	13222465	A	G	13222465	3	3	323	1	0	0	0	0	1	0	0	0	9385	246	9	4	813	4	MCM10	10	13222465	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	12806949	13222465	122312282	91	17203											
AGAP7	653268	genome.wustl.edu	37	10	51483196	51483196	+	Missense_Mutation	SNP	G	G	T	rs375333966		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr10:51483196G>T	ENST00000374095.5	-	2	395	c.270C>A	c.(268-270)ttC>ttA	p.F90L		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		90					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						AGTTCCTCTGGAATATTGTGC	0.343													N|||	1	0.000199681	8e-04	0	5008	,	,		14826	0		0	False		,,,				2504	0															0			10						G	LEU/PHE	9,3307		0,9,1649	10	10	10		270	-0.6	0.1	10		10	0,7166		0,0,3583	no	missense	AGAP7	NM_001077685.1	22	0,9,5232	TT,TG,GG		0.0,0.2714,0.0859	possibly-damaging	90/664	51483196	9,10473	1658	3583	5241	51153202	SO:0001583	missense	0																														ENST00000374095.5:c.270C>A	10.37:g.51483196G>T	ENSP00000363208:p.Phe90Leu		51153202	A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	12.94	2.089554	0.36855	0.002714	0.0	ENSG00000204169	ENST00000374095	D	0.86297	-2.1	0.589	-0.64	0.11493	.	0.000000	0.64402	N	0.000014	D	0.82388	0.5026	M	0.76938	2.355	0.19775	N	0.99995	B	0.33494	0.414	B	0.31016	0.123	T	0.73745	-0.3886	10	0.66056	D	0.02	.	4.9132	0.13833	0.273:0.0:0.727:0.0	.	90	Q5VUJ5	AGAP7_HUMAN	L	90	ENSP00000363208:F90L	ENSP00000363208:F90L	F	-	3	2	AGAP7	51153202	1.000000	0.71417	0.083000	0.20561	0.017000	0.09413	1.622000	0.36997	-0.270000	0.09285	0.175000	0.17021	TTC		0.343	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			T	51483196	G	T	51483196	3	4	323	1	0	0	0	0	1	0	0	0	373	1165	41	3	1745	3	AGAP7	10	51483196	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	38260731	51483196	84051551	92	17204											
NRBF2	29982	genome.wustl.edu	37	10	64913839	64913839	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr10:64913839C>A	ENST00000277746.6	+	4	906	c.725C>A	c.(724-726)aCc>aAc	p.T242N	NRBF2_ENST00000435510.2_Missense_Mutation_p.T232N	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	242					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCCTCCTCAACCTGGCAGAAG	0.473																																																0			10											47	46	47					10																	64913839		2203	4300	6503	64583845	SO:0001583	missense	29982			D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"comodulator of PPAR and RXR 1", "comodulator of PPAR and RXR 2"					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.725C>A	10.37:g.64913839C>A	ENSP00000277746:p.Thr242Asn		64583845	A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Missense_Mutation	SNP	ENST00000277746.6	37	CCDS7268.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710107	0.30322	.	.	ENSG00000148572	ENST00000277746;ENST00000395241;ENST00000435510	.	.	.	5.78	3.87	0.44632	.	0.610628	0.18966	N	0.126254	T	0.46718	0.1407	L	0.47716	1.5	0.30148	N	0.80329	B;B	0.34103	0.437;0.119	B;B	0.37601	0.254;0.119	T	0.49597	-0.8923	9	0.49607	T	0.09	-9.5136	16.4634	0.84071	0.0:0.753:0.247:0.0	.	232;242	B4DWS0;Q96F24	.;NRBF2_HUMAN	N	242;192;232	.	ENSP00000277746:T242N	T	+	2	0	NRBF2	64583845	0.001000	0.12720	0.957000	0.39632	0.723000	0.41478	0.803000	0.27083	0.737000	0.32582	0.563000	0.77884	ACC		0.473	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048247.1	NM_030759		A	64913839	C	A	64913839	3	1	323	1	0	0	0	0	1	0	0	0	10641	507	18	3	739	3	NRBF2	10	64913839	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	13430643	64913839	70620908	93	17205											
NDST2	8509	genome.wustl.edu	37	10	75565513	75565513	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr10:75565513C>A	ENST00000309979.6	-	8	2134	c.1578G>T	c.(1576-1578)atG>atT	p.M526I	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.M526I|NDST2_ENST00000299641.4_Missense_Mutation_p.M403I			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	526	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					ACAGATGGGTCATAAAGATGC	0.522																																																0			10											96	86	90					10																	75565513		2203	4300	6503	75235519	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1578G>T	10.37:g.75565513C>A	ENSP00000310657:p.Met526Ile		75235519	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399393	0.96030	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.53423	0.88;0.62	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.88704	2.975	0.80722	D	1	D;D;D	0.62365	0.983;0.991;0.962	P;P;P	0.61132	0.718;0.884;0.694	T	0.77558	-0.2543	10	0.87932	D	0	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	403;196;526	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	I	526;403	ENSP00000310657:M526I;ENSP00000299641:M403I	ENSP00000299641:M403I	M	-	3	0	NDST2	75235519	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	ATG		0.522	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		A	75565513	C	A	75565513	3	1	323	1	0	0	0	0	1	0	0	0	10256	826	29	3	1105	3	NDST2	10	75565513	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	10651674	75565513	59969234	94	17206											
SORCS3	22986	genome.wustl.edu	37	10	106675593	106675593	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr10:106675593C>T	ENST00000369701.3	+	3	925	c.698C>T	c.(697-699)tCg>tTg	p.S233L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	233					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACCTGCAGGTCGACAGATTAT	0.463																																					NSCLC(116;1497 1690 7108 13108 14106)											0			10											128	114	119					10																	106675593		2203	4300	6503	106665583	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.698C>T	10.37:g.106675593C>T	ENSP00000358715:p.Ser233Leu		106665583	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031940	0.93575	.	.	ENSG00000156395	ENST00000369701	T	0.34472	1.36	5.49	5.49	0.81192	VPS10 (1);	0.148318	0.47093	D	0.000259	T	0.56499	0.1989	L	0.46157	1.445	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.57682	-0.7769	10	0.87932	D	0	.	19.369	0.94477	0.0:1.0:0.0:0.0	.	233	Q9UPU3	SORC3_HUMAN	L	233	ENSP00000358715:S233L	ENSP00000358715:S233L	S	+	2	0	SORCS3	106665583	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	7.481000	0.81124	2.573000	0.86826	0.655000	0.94253	TCG		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	106675593	C	T	106675593	3	4	323	1	0	0	0	0	1	0	0	0	14935	893	31	1	708	1	SORCS3	10	106675593	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	31110080	106675593	28859154	95	17207											
XPNPEP1	7511	genome.wustl.edu	37	10	111625033	111625033	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr10:111625033T>G	ENST00000502935.1	-	21	2029	c.1910A>C	c.(1909-1911)gAt>gCt	p.D637A	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.D523A|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.D594A|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.D613A					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CCCAATCACATCCCTGCAGGT	0.498																																																0			10											132	113	120					10																	111625033		2203	4300	6503	111615023	SO:0001583	missense	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1910A>C	10.37:g.111625033T>G	ENSP00000421566:p.Asp637Ala		111615023		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	T	17.15	3.316690	0.60524	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	.	.	.	5.06	5.06	0.68205	.	0.169418	0.51477	D	0.000094	T	0.53769	0.1817	L	0.38175	1.15	0.50467	D	0.99987	B;B	0.09022	0.002;0.002	B;B	0.20184	0.028;0.01	T	0.53251	-0.8465	9	0.56958	D	0.05	-11.3839	13.4174	0.60976	0.0:0.0:0.0:1.0	.	637;594	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	A	637;523;613;594	.	ENSP00000324011:D613A	D	-	2	0	XPNPEP1	111615023	1.000000	0.71417	0.947000	0.38551	0.989000	0.77384	7.430000	0.80321	1.914000	0.55421	0.533000	0.62120	GAT		0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			G	111625033	T	G	111625033	3	3	323	1	0	0	0	0	1	0	0	0	17442	1435	50	5	94	5	XPNPEP1	10	111625033	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	4949440	111625033	23909714	96	17208											
HABP2	3026	genome.wustl.edu	37	10	115343116	115343116	+	Splice_Site	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr10:115343116T>C	ENST00000351270.3	+	10	1332	c.1236T>C	c.(1234-1236)atT>atC	p.I412I	HABP2_ENST00000542051.1_Splice_Site_p.I386I|HABP2_ENST00000541666.1_3'UTR	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	412	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	ACAATGATATTGGCAAGTTCC	0.428																																																0			10											94	93	94					10																	115343116		2203	4300	6503	115333106	SO:0001630	splice_region_variant	3026				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1237+1T>C	10.37:g.115343116T>C			115333106	A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	ENST00000351270.3	37	CCDS7577.1																																																																																				0.428	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132	Silent	C	115343116	T	C	115343116	5	2	323	1	0	0	0	0	0	0	1	0	6938	1826	63	4	1274	4	HABP2	10	115343116	Splice_Site	SNP	T	TCGA-29-1691-01A-01W-0633-09	3718083	115343116	20191631	97	17209											
EBF3	253738	genome.wustl.edu	37	10	131761261	131761261	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr10:131761261G>T	ENST00000355311.5	-	3	372	c.300C>A	c.(298-300)aaC>aaA	p.N100K	EBF3_ENST00000368648.3_Missense_Mutation_p.N100K			Q9H4W6	COE3_HUMAN	early B-cell factor 3	100					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTTTCTCGTTGTTTGGCTCCT	0.572																																																0			10											210	195	200					10																	131761261		2203	4300	6503	131651251	SO:0001583	missense	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.300C>A	10.37:g.131761261G>T	ENSP00000347463:p.Asn100Lys		131651251	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37		.	.	.	.	.	.	.	.	.	.	G	14.90	2.672782	0.47781	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.40476	1.03;1.03	5.42	4.51	0.55191	.	0.053436	0.64402	D	0.000001	T	0.22437	0.0541	N	0.08118	0	0.80722	D	1	B	0.21688	0.059	B	0.23852	0.049	T	0.06127	-1.0844	10	0.21014	T	0.42	-20.7256	10.4485	0.44507	0.1519:0.0:0.8481:0.0	.	100	Q9H4W6-2	.	K	100	ENSP00000347463:N100K;ENSP00000357637:N100K	ENSP00000347463:N100K	N	-	3	2	EBF3	131651251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.830000	0.69324	1.260000	0.44134	0.650000	0.86243	AAC		0.572	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		T	131761261	G	T	131761261	3	4	323	1	0	0	0	0	1	0	0	0	4882	1368	48	3	1411	3	EBF3	10	131761261	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	16418145	131761261	3773486	98	17210											
MUC5B	727897	genome.wustl.edu	37	11	1265638	1265638	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:1265638G>A	ENST00000529681.1	+	31	7586	c.7528G>A	c.(7528-7530)Gcc>Acc	p.A2510T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A2513T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2510	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCCAAAGCCACTCCCTT	0.642																																																0			11											6	8	7					11																	1265638		1682	3813	5495	1222214	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7528G>A	11.37:g.1265638G>A	ENSP00000436812:p.Ala2510Thr		1222214	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	6.170	0.399598	0.11696	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.17854	2.25;2.44	2.68	-5.37	0.02681	.	.	.	.	.	T	0.09730	0.0239	L	0.33245	0.995	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.12837	0.008;0.008	T	0.28427	-1.0044	9	0.87932	D	0	.	2.024	0.03515	0.3847:0.1322:0.3529:0.1302	.	3148;2513	A7Y9J9;E9PBJ0	.;.	T	2510;2513;2482;2525;55	ENSP00000436812:A2510T;ENSP00000415793:A2513T	ENSP00000343037:A2482T	A	+	1	0	MUC5B	1222214	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.511000	0.02260	-2.420000	0.00564	0.184000	0.17185	GCC		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1265638	G	A	1265638	3	1	323	1	0	0	0	0	1	0	0	0	9979	971	34	2	7659	2	MUC5B	11	1265638	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09		1265638	133740878	99	17211											
CTR9	9646	genome.wustl.edu	37	11	10794080	10794080	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:10794080T>G	ENST00000361367.2	+	20	2884	c.2458T>G	c.(2458-2460)Tta>Gta	p.L820V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	820					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTGTTCTGACTTACTGAGCCA	0.428																																																0			11											56	57	57					11																	10794080		2201	4294	6495	10750656	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2458T>G	11.37:g.10794080T>G	ENSP00000355013:p.Leu820Val		10750656	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942475	0.73672	.	.	ENSG00000198730	ENST00000361367	T	0.55588	0.51	5.74	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.60805	0.2297	M	0.88570	2.965	0.58432	D	0.999999	P	0.50528	0.936	P	0.45681	0.49	T	0.67848	-0.5564	10	0.51188	T	0.08	-9.8481	9.2906	0.37784	0.0:0.1368:0.0:0.8632	.	820	Q6PD62	CTR9_HUMAN	V	820	ENSP00000355013:L820V	ENSP00000355013:L820V	L	+	1	2	CTR9	10750656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.483000	0.45233	2.193000	0.70182	0.482000	0.46254	TTA		0.428	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		G	10794080	T	G	10794080	3	3	323	1	0	0	0	0	1	0	0	0	4024	1606	56	5	2536	5	CTR9	11	10794080	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	9528442	10794080	124212436	100	17212											
KCNJ11	3767	genome.wustl.edu	37	11	17408989	17408989	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:17408989delA	ENST00000339994.4	-	1	1217	c.650delT	c.(649-651)atgfs	p.M217fs	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Frame_Shift_Del_p.M130fs	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	217					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TACCACCTGCATGTGGATGGT	0.637											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											78	58	65					11																	17408989		2200	4293	6493	17365565	SO:0001589	frameshift_variant	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.650delT	11.37:g.17408989delA	ENSP00000345708:p.Met217fs	717	17365565	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Frame_Shift_Del	DEL	ENST00000339994.4	37	CCDS31436.1																																																																																				0.637	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		-	17408989	A	-	17408989	7	5	323	1	0	1	0	1	0	0	0	0	8045	217	8	0	526	0	KCNJ11	11	17408989	Frame_Shift_Del	DEL	A	TCGA-29-1691-01A-01W-0633-09	6614909	17408989	117597527	101	17213											
OR4A15	81328	genome.wustl.edu	37	11	55135853	55135853	+	Missense_Mutation	SNP	A	A	G	rs369716493		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:55135853A>G	ENST00000314706.3	+	1	494	c.494A>G	c.(493-495)aAt>aGt	p.N165S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCACCATGAATCGTCGAGTC	0.433																																																0			11						A	SER/ASN	0,4402		0,0,2201	231	209	216		494	-0.4	0.4	11		216	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR4A15	NM_001005275.1	46	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign	165/345	55135853	1,12993	2201	4296	6497	54892429	SO:0001583	missense	81328			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.494A>G	11.37:g.55135853A>G	ENSP00000325065:p.Asn165Ser		54892429	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	A	0.960	-0.703597	0.03255	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.00873	5.59	3.48	-0.394	0.12434	GPCR, rhodopsin-like superfamily (1);	0.248994	0.28393	N	0.015511	T	0.00580	0.0019	N	0.11724	0.165	0.09310	N	0.999996	B	0.23490	0.086	B	0.23275	0.045	T	0.49103	-0.8974	10	0.17369	T	0.5	.	7.1376	0.25537	0.6748:0.0:0.3252:0.0	.	165	Q8NGL6	O4A15_HUMAN	S	165	ENSP00000325065:N165S	ENSP00000325065:N165S	N	+	2	0	OR4A15	54892429	0.000000	0.05858	0.371000	0.25978	0.054000	0.15201	-2.080000	0.01368	0.031000	0.15407	0.403000	0.27427	AAT		0.433	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		G	55135853	A	G	55135853	3	3	323	1	0	0	0	0	1	0	0	0	11040	101	4	4	496	4	OR4A15	11	55135853	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	37726864	55135853	79870663	102	17214											
PRG2	5553	genome.wustl.edu	37	11	57156628	57156628	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:57156628A>G	ENST00000311862.5	-	3	294	c.221T>C	c.(220-222)gTt>gCt	p.V74A	RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.V179A|PRG2_ENST00000533605.1_Missense_Mutation_p.V74A|PRG2_ENST00000525955.1_Missense_Mutation_p.V74A	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	74					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GATAGACTCAACAGCCCCATC	0.552																																																0			11											152	142	145					11																	57156628		2201	4296	6497	56913204	SO:0001583	missense	5553			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.221T>C	11.37:g.57156628A>G	ENSP00000312134:p.Val74Ala		56913204	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	A	7.341	0.620812	0.14193	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.32272	3.1;2.91;3.1;1.46	4.27	-4.0	0.04057	.	2.596690	0.02049	N	0.049905	T	0.19565	0.0470	N	0.22421	0.69	0.09310	N	1	B;B	0.26547	0.001;0.152	B;B	0.24974	0.001;0.057	T	0.13710	-1.0499	10	0.27082	T	0.32	.	7.1159	0.25416	0.2804:0.1721:0.5475:0.0	.	74;74	A6XMW0;P13727	.;PRG2_HUMAN	A	74;74;74;179	ENSP00000312134:V74A;ENSP00000433231:V74A;ENSP00000433016:V74A;ENSP00000431536:V179A	ENSP00000312134:V74A	V	-	2	0	RP11-872D17.8;PRG2	56913204	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.101000	0.10973	-0.724000	0.04908	-0.379000	0.06801	GTT		0.552	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		G	57156628	A	G	57156628	3	3	323	1	0	0	0	0	1	0	0	0	12482	43	2	4	463	4	PRG2	11	57156628	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	2020775	57156628	77849888	103	17215											
SLC43A3	29015	genome.wustl.edu	37	11	57182556	57182556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:57182556G>A	ENST00000395123.2	-	10	1097	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	SLC43A3_ENST00000533524.1_Nonsense_Mutation_p.Q278*|SLC43A3_ENST00000352187.1_Nonsense_Mutation_p.Q265*|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000395124.1_Nonsense_Mutation_p.Q265*|SLC43A3_ENST00000529554.1_Nonsense_Mutation_p.Q265*	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	265					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CGGAGTTCCTGCTTCTGCCCT	0.567																																																0			11											83	79	80					11																	57182556		2201	4296	6497	56939132	SO:0001587	stop_gained	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.793C>T	11.37:g.57182556G>A	ENSP00000378555:p.Gln265*		56939132	B4DNR8|E7EQD2|Q9NSS4	Nonsense_Mutation	SNP	ENST00000395123.2	37	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855822	0.32791	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	.	.	.	5.16	0.913	0.19354	.	1.161120	0.05953	N	0.639158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-1.993	4.1652	0.10303	0.0781:0.1377:0.4997:0.2845	.	.	.	.	X	265;265;265;265;278;265	.	ENSP00000337561:Q265X	Q	-	1	0	SLC43A3	56939132	0.000000	0.05858	0.004000	0.12327	0.127000	0.20565	0.080000	0.14802	0.186000	0.20125	0.563000	0.77884	CAG		0.567	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		A	57182556	G	A	57182556	4	1	323	1	0	0	0	0	0	1	0	0	14637	1328	46	2	702	2	SLC43A3	11	57182556	Nonsense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	25928	57182556	77823960	104	17216											
DAGLA	747	genome.wustl.edu	37	11	61511046	61511046	+	Silent	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:61511046G>A	ENST00000257215.5	+	20	2330	c.2214G>A	c.(2212-2214)gaG>gaA	p.E738E	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	738					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCTTCTCGGAGGGGCGGCTGC	0.677																																																0			11											55	69	64					11																	61511046		2186	4237	6423	61267622	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2214G>A	11.37:g.61511046G>A			61267622	A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	CCDS31578.1																																																																																				0.677	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		A	61511046	G	A	61511046	2	1	323	1	0	0	0	0	0	0	0	1	4226	991	35	2		2	DAGLA	11	61511046	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09	4328490	61511046	73495470	105	17217											
CD248	57124	genome.wustl.edu	37	11	66083141	66083141	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:66083141A>G	ENST00000311330.3	-	1	1374	c.1358T>C	c.(1357-1359)gTc>gCc	p.V453A	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	453	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CGTGGCAGAGACCACCACAGG	0.662																																																0			11											103	98	100					11																	66083141		2200	4295	6495	65839717	SO:0001583	missense	57124			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1358T>C	11.37:g.66083141A>G	ENSP00000308117:p.Val453Ala		65839717	Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	A	5.605	0.296455	0.10622	.	.	ENSG00000174807	ENST00000311330	D	0.87571	-2.27	4.32	1.99	0.26369	.	0.834824	0.10066	N	0.720303	T	0.72795	0.3505	N	0.12182	0.205	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.56780	-0.7922	10	0.22109	T	0.4	-15.6653	6.0657	0.19862	0.6856:0.0:0.3144:0.0	.	453	Q9HCU0	CD248_HUMAN	A	453	ENSP00000308117:V453A	ENSP00000308117:V453A	V	-	2	0	CD248	65839717	0.590000	0.26815	0.805000	0.32314	0.382000	0.30200	1.823000	0.39062	0.312000	0.23038	0.374000	0.22700	GTC		0.662	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		G	66083141	A	G	66083141	3	3	323	1	0	0	0	0	1	0	0	0	2989	275	10	4	919	4	CD248	11	66083141	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	4572095	66083141	68923375	106	17218											
RNF121	55298	genome.wustl.edu	37	11	71693956	71693956	+	Silent	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:71693956C>G	ENST00000361756.3	+	4	754	c.393C>G	c.(391-393)acC>acG	p.T131T	RNF121_ENST00000545854.1_Silent_p.T50T|RNF121_ENST00000530137.1_Silent_p.T99T|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000393713.3_Silent_p.T99T	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	131						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TACAGACAACCCCAAGGTGAG	0.488																																																0			11											106	92	97					11																	71693956		2200	4293	6493	71371604	SO:0001819	synonymous_variant	55298			AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"RING-type (C3HC4) zinc fingers"	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.393C>G	11.37:g.71693956C>G			71371604	B3KSW8|Q6IA57|Q6P449|Q96DB4	Silent	SNP	ENST00000361756.3	37	CCDS8203.1																																																																																				0.488	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		G	71693956	C	G	71693956	2	3	323	1	0	0	0	0	0	0	0	1	13434	610	22	3		3	RNF121	11	71693956	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	5610815	71693956	63312560	107	17219											
CXCR5	643	genome.wustl.edu	37	11	118764862	118764862	+	Silent	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr11:118764862C>G	ENST00000292174.4	+	2	785	c.609C>G	c.(607-609)acC>acG	p.T203T	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	203					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CACGTTGCACCTTCTCCCAAG	0.577																																																0			11											79	64	69					11																	118764862		2200	4295	6495	118270072	SO:0001819	synonymous_variant	643			X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	1060	protein-coding gene	gene with protein product		601613	"Burkitt lymphoma receptor 1, GTP-binding protein", "Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.609C>G	11.37:g.118764862C>G			118270072	Q14811	Silent	SNP	ENST00000292174.4	37	CCDS8402.1																																																																																				0.577	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		G	118764862	C	G	118764862	2	3	323	1	0	0	0	0	0	0	0	1	4094	668	24	3		3	CXCR5	11	118764862	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	47070906	118764862	16241654	108	17220											
TAS2R9	50835	genome.wustl.edu	37	12	10962144	10962144	+	Silent	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr12:10962144A>G	ENST00000240691.2	-	1	623	c.531T>C	c.(529-531)acT>acC	p.T177T	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	177					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTGTTTGAAAGTACCTGGAA	0.378																																																0			12											67	67	67					12																	10962144		2202	4300	6502	10853411	SO:0001819	synonymous_variant	50835			AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.531T>C	12.37:g.10962144A>G			10853411	Q502V7|Q50KT0|Q50KT1|Q645W9	Silent	SNP	ENST00000240691.2	37	CCDS8633.1																																																																																				0.378	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			G	10962144	A	G	10962144	2	3	323	1	0	0	0	0	0	0	0	1	15588	59	3	4		4	TAS2R9	12	10962144	Silent	SNP	A	TCGA-29-1691-01A-01W-0633-09		10962144	122889751	109	17221											
SLCO1C1	53919	genome.wustl.edu	37	12	20870126	20870126	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr12:20870126G>A	ENST00000266509.2	+	7	1105	c.737G>A	c.(736-738)tGt>tAt	p.C246Y	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.C197Y|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.C246Y|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.C128Y|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.C246Y	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	246					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GGCTCATTATGTGCCAAACTA	0.338																																																0			12											203	185	191					12																	20870126		2203	4300	6503	20761393	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.737G>A	12.37:g.20870126G>A	ENSP00000266509:p.Cys246Tyr		20761393	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178700	0.78564	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.80566	0.34;0.34;0.34;0.34;-1.39	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92351	0.7573	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;0.993;0.993	D;D;D;D	0.83275	0.996;0.972;0.972;0.961	D	0.93083	0.6493	10	0.66056	D	0.02	.	19.9561	0.97218	0.0:0.0:1.0:0.0	.	128;197;246;246	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	Y	246;197;246;246;128	ENSP00000444149:C246Y;ENSP00000438665:C197Y;ENSP00000266509:C246Y;ENSP00000370964:C246Y;ENSP00000444527:C128Y	ENSP00000266509:C246Y	C	+	2	0	SLCO1C1	20761393	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	9.405000	0.97313	2.725000	0.93324	0.591000	0.81541	TGT		0.338	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		A	20870126	G	A	20870126	3	1	323	1	0	0	0	0	1	0	0	0	14728	1377	48	2	759	2	SLCO1C1	12	20870126	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	9907982	20870126	112981769	110	17222											
CSAD	51380	genome.wustl.edu	37	12	53554037	53554037	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr12:53554037C>T	ENST00000444623.1	-	14	1300	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	CSAD_ENST00000379846.1_Missense_Mutation_p.V198M|CSAD_ENST00000453446.2_Missense_Mutation_p.V345M|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379843.3_Missense_Mutation_p.V198M|CSAD_ENST00000267085.4_Missense_Mutation_p.V372M	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	345					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	TCCAGAGCCACATCGTAGAAC	0.597																																					Ovarian(109;252 1546 16882 28524 44645)											0			12											115	103	107					12																	53554037		2203	4300	6503	51840304	SO:0001583	missense	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1033G>A	12.37:g.53554037C>T	ENSP00000415485:p.Val345Met		51840304	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.18|15.18	2.758015|2.758015	0.49468|0.49468	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000379850|ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	.|T;T;T;T;T	.|0.42900	.|0.96;0.96;0.96;0.96;0.96	4.67|4.67	4.67|4.67	0.58626|0.58626	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.366001	.|0.28187	.|N	.|0.016276	T|T	0.44074|0.44074	0.1276|0.1276	M|M	0.89601|0.89601	3.045|3.045	0.18873|0.18873	N|N	0.999989|0.999989	.|P;B;P	.|0.40515	.|0.551;0.349;0.719	.|B;B;B	.|0.33890	.|0.171;0.169;0.172	T|T	0.56619|0.56619	-0.7949|-0.7949	5|10	.|0.48119	.|T	.|0.1	-18.7481|-18.7481	6.8218|6.8218	0.23861|0.23861	0.0:0.7265:0.1803:0.0932|0.0:0.7265:0.1803:0.0932	.|.	.|372;345;198	.|Q9Y600-3;Q9Y600;Q9Y600-2	.|.;CSAD_HUMAN;.	Y|M	370|434;198;372;198;345;306;345	.|ENSP00000369172:V198M;ENSP00000267085:V372M;ENSP00000369175:V198M;ENSP00000415485:V345M;ENSP00000410648:V345M	.|ENSP00000267085:V372M	C|V	-|-	2|1	0|0	CSAD|CSAD	51840304|51840304	0.343000|0.343000	0.24818|0.24818	0.980000|0.980000	0.43619|0.43619	0.993000|0.993000	0.82548|0.82548	0.660000|0.660000	0.25009|0.25009	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.597	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		T	53554037	C	T	53554037	3	4	323	1	0	0	0	0	1	0	0	0	3925	478	17	2	464	2	CSAD	12	53554037	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	32683911	53554037	80297858	111	17223											
PPFIA2	8499	genome.wustl.edu	37	12	81719569	81719569	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr12:81719569T>A	ENST00000549396.1	-	22	2789	c.2629A>T	c.(2629-2631)Aga>Tga	p.R877*	PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R859*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R877*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R859*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R877*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R778*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R94*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R803*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.R877*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R444*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R724*|PPFIA2_ENST00000545296.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	877					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTCTTTAGTCTTCGATCCTTC	0.393																																																0			12											87	83	84					12																	81719569		1810	4074	5884	80243700	SO:0001587	stop_gained	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2629A>T	12.37:g.81719569T>A	ENSP00000450337:p.Arg877*		80243700	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	37|37|37	6.511910|6.511910|6.511910	0.97624|0.97624|0.97624	.|.|.	.|.|.	ENSG00000139220|ENSG00000139220|ENSG00000139220	ENST00000550018|ENST00000551147|ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.|.|.	.|.|.	.|.|.	5.83|5.83|5.83	4.64|4.64|4.64	0.57946|0.57946|0.57946	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.33818|0.33818|.	0.0876|0.0876|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.33523|0.33523|.	-0.9865|-0.9865|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-15.1506|-15.1506|-15.1506	13.495|13.495|13.495	0.61421|0.61421|0.61421	0.0:0.0:0.1384:0.8615|0.0:0.0:0.1384:0.8615|0.0:0.0:0.1384:0.8615	.|.|.	.|.|.	.|.|.	.|.|.	D|M|X	7|39|877;859;444;94;803;888;859;877;778;877	.|.|.	.|.|ENSP00000327416:R859X	E|K|R	-|-|-	3|2|1	2|0|2	PPFIA2|PPFIA2|PPFIA2	80243700|80243700|80243700	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.947000|0.947000|0.947000	0.59692|0.59692|0.59692	3.221000|3.221000|3.221000	0.51215|0.51215|0.51215	2.217000|2.217000|2.217000	0.71921|0.71921|0.71921	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	GAA|AAG|AGA		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			A	81719569	T	A	81719569	4	1	323	1	0	0	0	0	0	1	0	0	12310	1617	56	5	1188	5	PPFIA2	12	81719569	Nonsense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	28165532	81719569	52132326	112	17224											
TMEM119	338773	genome.wustl.edu	37	12	108985969	108985969	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr12:108985969G>A	ENST00000392806.3	-	2	359	c.191C>T	c.(190-192)cCc>cTc	p.P64L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	64					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CATCGATGTGGGGCTGAGGGC	0.682																																																0			12											28	34	32					12																	108985969		2203	4299	6502	107510098	SO:0001583	missense	338773			AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.191C>T	12.37:g.108985969G>A	ENSP00000376553:p.Pro64Leu		107510098	Q6UXE5|Q8N2F5	Missense_Mutation	SNP	ENST00000392806.3	37	CCDS9119.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919897	0.33908	.	.	ENSG00000183160	ENST00000392806;ENST00000549031	T;T	0.57595	0.39;0.4	4.6	1.5	0.22942	.	0.530450	0.18762	N	0.131858	T	0.45538	0.1347	M	0.65975	2.015	0.48185	D	0.999603	B	0.14012	0.009	B	0.14578	0.011	T	0.34502	-0.9826	10	0.38643	T	0.18	-7.5003	6.464	0.21971	0.1656:0.1473:0.6871:0.0	.	64	Q4V9L6	TM119_HUMAN	L	64	ENSP00000376553:P64L;ENSP00000448583:P64L	ENSP00000376553:P64L	P	-	2	0	TMEM119	107510098	1.000000	0.71417	0.996000	0.52242	0.092000	0.18411	2.804000	0.47931	0.495000	0.27882	0.407000	0.27541	CCC		0.682	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		A	108985969	G	A	108985969	3	1	323	1	0	0	0	0	1	0	0	0	16032	1232	43	2	664	2	TMEM119	12	108985969	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	27266400	108985969	24865926	113	17225											
OAS3	4940	genome.wustl.edu	37	12	113384554	113384554	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr12:113384554C>G	ENST00000228928.7	+	4	822	c.643C>G	c.(643-645)Cta>Gta	p.L215V	OAS3_ENST00000546638.1_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	215	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ACAGGTGTGCCTACAGGGGTT	0.592																																																0			12											25	28	27					12																	113384554		2138	4259	6397	111868937	SO:0001583	missense	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.643C>G	12.37:g.113384554C>G	ENSP00000228928:p.Leu215Val		111868937	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015745	0.19355	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.42131	0.98	3.83	0.726	0.18248	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.21962	0.0529	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.17433	0.018	T	0.21999	-1.0229	9	0.62326	D	0.03	.	2.1686	0.03844	0.2019:0.4869:0.1964:0.1148	.	215	Q9Y6K5	OAS3_HUMAN	V	215	ENSP00000228928:L215V	ENSP00000228928:L215V	L	+	1	2	OAS3	111868937	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.261000	0.08694	0.026000	0.15269	-0.176000	0.13171	CTA		0.592	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			G	113384554	C	G	113384554	3	3	323	1	0	0	0	0	1	0	0	0	10801	680	24	3	657	3	OAS3	12	113384554	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	4398585	113384554	20467341	114	17226											
DNAH10	196385	genome.wustl.edu	37	12	124377947	124377947	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr12:124377947G>A	ENST00000409039.3	+	52	8834	c.8809G>A	c.(8809-8811)Ggg>Agg	p.G2937R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2937	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTCGCCAGTGGGGGACACCCT	0.577																																																0			12											62	66	65					12																	124377947		2011	4185	6196	122943900	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8809G>A	12.37:g.124377947G>A	ENSP00000386770:p.Gly2937Arg		122943900	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947080	0.92593	.	.	ENSG00000197653	ENST00000409039	T	0.60548	0.18	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	U	0.000001	D	0.85344	0.5675	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91002	0.4843	10	0.87932	D	0	.	18.1884	0.89799	0.0:0.0:1.0:0.0	.	2937	Q8IVF4	DYH10_HUMAN	R	2937	ENSP00000386770:G2937R	ENSP00000386770:G2937R	G	+	1	0	DNAH10	122943900	1.000000	0.71417	0.984000	0.44739	0.855000	0.48748	9.522000	0.98032	2.621000	0.88768	0.561000	0.74099	GGG		0.577	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124377947	G	A	124377947	3	1	323	1	0	0	0	0	1	0	0	0	4598	1232	43	2	9015	2	DNAH10	12	124377947	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	10993393	124377947	9473948	115	17227											
TMEM132B	114795	genome.wustl.edu	37	12	125834354	125834370	+	Frame_Shift_Del	DEL	CAGACCTTGTTTTATGT	CAGACCTTGTTTTATGT	-			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	CAGACCTTGTTTTATGT	CAGACCTTGTTTTATGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr12:125834354_125834370delCAGACCTTGTTTTATGT	ENST00000299308.3	+	2	417_433	c.409_425delCAGACCTTGTTTTATGT	c.(409-426)cagaccttgttttatgtcfs	p.QTLFYV137fs	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	137						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCCAAAGTGCAGACCTTGTTTTATGTCACTGGCATG	0.493																																																0			12																																								124400323	SO:0001589	frameshift_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.409_425delCAGACCTTGTTTTATGT	12.37:g.125834354_125834370delCAGACCTTGTTTTATGT	ENSP00000299308:p.Gln137fs		124400307	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Frame_Shift_Del	DEL	ENST00000299308.3	37	CCDS41859.1																																																																																				0.493	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		-	125834370	CAGACCTTGTTTTATGT	-	125834354	7	5	323	1	0	1	0	1	0	0	0	0	16046	711	25	0	415	0	TMEM132B	12	125834354	Frame_Shift_Del	DEL	CAGACCTTGTTTTATGT	TCGA-29-1691-01A-01W-0633-09	1456407	125834354	8017541	116	17228											
C1QTNF9B	387911	genome.wustl.edu	37	13	24470988	24470988	+	Silent	SNP	G	G	A	rs374662312		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr13:24470988G>A	ENST00000382140.2	-	3	198	c.138C>T	c.(136-138)gaC>gaT	p.D46D	C1QTNF9B_ENST00000382057.3_Silent_p.D46D|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Silent_p.D46D|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382137.3_Silent_p.D46D			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	46	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCTTCGCTCCGTCTCGTCCAT	0.542													G|||	1	0.000199681	0	0	5008	,	,		23710	0.001		0	False		,,,				2504	0															0			13						G		0,4406		0,0,2203	111	103	106		138	-8	0.8	13		106	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C1QTNF9B	NM_001007537.1		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		46/334	24470988	1,12999	2203	4297	6500	23368988	SO:0001819	synonymous_variant	387911			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.138C>T	13.37:g.24470988G>A			23368988	A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382140.2	37	CCDS31947.1																																																																																				0.542	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		A	24470988	G	A	24470988	2	1	323	1	0	0	0	0	0	0	0	1	1971	1136	40	1		1	C1QTNF9B	13	24470988	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09		24470988	90698890	117	17229											
C1QTNF9	338872	genome.wustl.edu	37	13	24890279	24890279	+	Silent	SNP	C	C	T	rs374313886		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr13:24890279C>T	ENST00000382071.2	+	2	223	c.138C>T	c.(136-138)gaC>gaT	p.D46D	C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_3'UTR|C1QTNF9_ENST00000332018.4_Silent_p.D46D			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	46	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		ATGGACGAGACGGAGCGAAGG	0.542																																																0			13						C		0,4406		0,0,2203	81	73	76		138	-7.7	0.8	13		76	1,8591	818.2+/-406.9	0,1,4295	no	coding-synonymous	C1QTNF9	NM_178540.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		46/334	24890279	1,12997	2203	4296	6499	23788279	SO:0001819	synonymous_variant	338872			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.138C>T	13.37:g.24890279C>T			23788279	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382071.2	37	CCDS9306.1																																																																																				0.542	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		T	24890279	C	T	24890279	2	4	323	1	0	0	0	0	0	0	0	1	1970	535	19	1		1	C1QTNF9	13	24890279	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	419291	24890279	90279599	118	17230											
HTR2A	3356	genome.wustl.edu	37	13	47409023	47409023	+	Missense_Mutation	SNP	C	C	G	rs574628777	byFrequency	TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr13:47409023C>G	ENST00000378688.4	-	3	1496	c.1365G>C	c.(1363-1365)gaG>gaC	p.E455D	HTR2A_ENST00000542664.1_Missense_Mutation_p.E455D|HTR2A_ENST00000543956.1_Missense_Mutation_p.E371D			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	455					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTTAGAAGCCTCTTCAGAAT	0.443																																																0			13											137	132	133					13																	47409023		2203	4300	6503	46307024	SO:0001583	missense	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1365G>C	13.37:g.47409023C>G	ENSP00000367959:p.Glu455Asp		46307024	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.436156	0.01108	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.61392	0.48;0.11;0.48	5.73	-5.39	0.02664	.	0.739762	0.14002	N	0.348037	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.13407	0.009;0.001	T	0.17198	-1.0377	10	0.17369	T	0.5	.	2.4011	0.04401	0.3234:0.3295:0.2459:0.1012	.	371;455	F5GWE8;P28223	.;5HT2A_HUMAN	D	455;371;455	ENSP00000367959:E455D;ENSP00000441861:E371D;ENSP00000437737:E455D	ENSP00000367959:E455D	E	-	3	2	HTR2A	46307024	0.017000	0.18338	0.000000	0.03702	0.019000	0.09904	0.193000	0.17116	-1.052000	0.03222	-1.008000	0.02478	GAG		0.443	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		G	47409023	C	G	47409023	3	3	323	1	0	0	0	0	1	0	0	0	7441	680	24	3	54	3	HTR2A	13	47409023	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	22518744	47409023	67760855	119	17231											
RB1	5925	genome.wustl.edu	37	13	49027156	49027156	+	Nonsense_Mutation	SNP	C	C	T	rs587778864		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr13:49027156C>T	ENST00000267163.4	+	18	1861	c.1723C>T	c.(1723-1725)Caa>Taa	p.Q575*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	575	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.Q575fs*35(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCTTATTAAACAATCAAAGGA	0.338		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(10)|Deletion - Frameshift(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|eye(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	13	GRCh37	CM961232	RB1	M							108	103	104					13																	49027156		2203	4300	6503	47925157	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1723C>T	13.37:g.49027156C>T	ENSP00000267163:p.Gln575*		47925157	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.663582	0.98419	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.75	5.75	0.90469	.	0.127807	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.5489	0.95310	0.0:1.0:0.0:0.0	.	.	.	.	X	554;575	.	ENSP00000267163:Q575X	Q	+	1	0	RB1	47925157	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.496000	0.60360	2.717000	0.92951	0.655000	0.94253	CAA		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	49027156	C	T	49027156	4	4	323	1	0	0	0	0	0	1	0	0	13101	479	17	2	1793	2	RB1	13	49027156	Nonsense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	1618133	49027156	66142722	120	17232											
CDC16	8881	genome.wustl.edu	37	13	115011486	115011486	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr13:115011486C>G	ENST00000356221.3	+	10	967	c.859C>G	c.(859-861)Ctt>Gtt	p.L287V	CDC16_ENST00000360383.3_Missense_Mutation_p.L287V|CDC16_ENST00000375308.1_Missense_Mutation_p.L193V|CDC16_ENST00000252457.5_Missense_Mutation_p.L286V|CDC16_ENST00000252458.6_Missense_Mutation_p.L193V|CDC16_ENST00000375310.1_Missense_Mutation_p.L193V|CDC16_ENST00000375312.3_Missense_Mutation_p.L193V|MIR548AR_ENST00000582191.1_RNA			Q13042	CDC16_HUMAN	cell division cycle 16	287					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ACTTTTCTATCTTTCTCATAA	0.269																																																0			13											148	136	140					13																	115011486		2201	4297	6498	114029588	SO:0001583	missense	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.859C>G	13.37:g.115011486C>G	ENSP00000348554:p.Leu287Val		114029588	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278400	0.59758	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	L	0.28115	0.83	0.80722	D	1	D;D;P	0.56746	0.965;0.977;0.915	P;P;B	0.51999	0.671;0.687;0.276	T	0.44221	-0.9342	9	.	.	.	-8.7327	20.5948	0.99439	0.0:1.0:0.0:0.0	.	286;286;287	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	V	287;193;287;193;286;193;193	ENSP00000353549:L287V;ENSP00000348554:L287V;ENSP00000364459:L193V;ENSP00000252457:L286V;ENSP00000364457:L193V	.	L	+	1	0	CDC16	114029588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.497000	0.73674	2.873000	0.98535	0.563000	0.77884	CTT		0.269	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		G	115011486	C	G	115011486	3	3	323	1	0	0	0	0	1	0	0	0	3058	913	32	3	897	3	CDC16	13	115011486	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	65984330	115011486	158392	121	17233											
OR11H4	390442	genome.wustl.edu	37	14	20711900	20711900	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr14:20711900G>C	ENST00000315409.2	+	1	1003	c.950G>C	c.(949-951)gGa>gCa	p.G317A		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GTCCTGTTTGGAATGAGAATT	0.393																																																0			14											68	70	69					14																	20711900		2203	4300	6503	19781740	SO:0001583	missense	390442				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.950G>C	14.37:g.20711900G>C	ENSP00000318997:p.Gly317Ala		19781740	B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	G	2.226	-0.377294	0.05000	.	.	ENSG00000176198	ENST00000315409	T	0.37584	1.19	4.7	4.7	0.59300	.	0.403440	0.20929	N	0.083125	T	0.21761	0.0524	N	0.25245	0.725	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10567	-1.0624	10	0.18710	T	0.47	-0.5165	8.7024	0.34334	0.1023:0.0:0.8977:0.0	.	317	Q8NGC9	O11H4_HUMAN	A	317	ENSP00000318997:G317A	ENSP00000318997:G317A	G	+	2	0	OR11H4	19781740	0.644000	0.27277	0.107000	0.21349	0.435000	0.31806	-0.331000	0.07914	2.437000	0.82529	0.655000	0.94253	GGA		0.393	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			C	20711900	G	C	20711900	3	2	323	1	0	0	0	0	1	0	0	0	10928	1174	41	3	952	3	OR11H4	14	20711900	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09		20711900	86637640	122	17234											
JPH4	84502	genome.wustl.edu	37	14	24040581	24040581	+	Silent	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr14:24040581G>A	ENST00000397118.3	-	6	2261	c.1359C>T	c.(1357-1359)ccC>ccT	p.P453P	JPH4_ENST00000356300.4_Silent_p.P453P|JPH4_ENST00000544177.1_Silent_p.P118P	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	453					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		ATCCCTCTGAGGGGGTCAGTC	0.672																																																0			14											43	44	43					14																	24040581		2203	4300	6503	23110421	SO:0001819	synonymous_variant	84502			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1359C>T	14.37:g.24040581G>A			23110421	D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	CCDS9603.1																																																																																				0.672	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		A	24040581	G	A	24040581	2	1	323	1	0	0	0	0	0	0	0	1	7963	987	35	2		2	JPH4	14	24040581	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09	3328681	24040581	83308959	123	17235											
SYNE2	23224	genome.wustl.edu	37	14	64632115	64632115	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr14:64632115C>A	ENST00000344113.4	+	90	16804	c.16592C>A	c.(16591-16593)cCt>cAt	p.P5531H	SYNE2_ENST00000555002.1_Missense_Mutation_p.P2165H|SYNE2_ENST00000394768.2_Missense_Mutation_p.P1916H|SYNE2_ENST00000358025.3_Missense_Mutation_p.P5531H|SYNE2_ENST00000357395.3_Missense_Mutation_p.P1916H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5531					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAGAAAATCCTGACTCATTC	0.358																																																0			14											110	119	116					14																	64632115		2203	4300	6503	63701868	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16592C>A	14.37:g.64632115C>A	ENSP00000341781:p.Pro5531His		63701868	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396968	0.62177	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.50813	0.73;4.02;0.73;4.08;4.02	5.93	5.05	0.67936	.	0.382752	0.22332	N	0.061449	T	0.64713	0.2623	M	0.69823	2.125	0.80722	D	1	D;D;D	0.67145	0.993;0.994;0.996	P;P;D	0.64595	0.887;0.865;0.927	T	0.67019	-0.5776	10	0.56958	D	0.05	.	12.4667	0.55762	0.0:0.9217:0.0:0.0783	.	1916;5531;5531	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	H	5531;1916;5531;2165;1916	ENSP00000350719:P5531H;ENSP00000349969:P1916H;ENSP00000341781:P5531H;ENSP00000450831:P2165H;ENSP00000378249:P1916H	ENSP00000341781:P5531H	P	+	2	0	SYNE2	63701868	0.598000	0.26882	0.819000	0.32651	0.993000	0.82548	1.498000	0.35660	1.513000	0.48852	0.655000	0.94253	CCT		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64632115	C	A	64632115	3	1	323	1	0	0	0	0	1	0	0	0	15446	681	24	3	16946	3	SYNE2	14	64632115	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	40591534	64632115	42717425	124	17236											
SIPA1L1	26037	genome.wustl.edu	37	14	72138315	72138315	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr14:72138315C>T	ENST00000555818.1	+	8	3083	c.2735C>T	c.(2734-2736)aCc>aTc	p.T912I	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T912I|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T912I|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T387I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	912					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAACTGACACCAGCCTCAAA	0.418																																																0			14											106	102	103					14																	72138315		2203	4300	6503	71208068	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2735C>T	14.37:g.72138315C>T	ENSP00000450832:p.Thr912Ile		71208068	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	6.272	0.418334	0.11870	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;D	0.84516	-1.03;-1.04;-1.03;-1.86	5.86	0.739	0.18324	.	0.370112	0.36972	N	0.002313	T	0.80874	0.4707	L	0.47716	1.5	0.38672	D	0.95232	B;B;B;P;B	0.42456	0.02;0.012;0.005;0.78;0.079	B;B;B;P;B	0.44696	0.036;0.008;0.01;0.458;0.014	T	0.75161	-0.3415	10	0.25751	T	0.34	-3.4003	11.7231	0.51693	0.3236:0.4682:0.2082:0.0	.	387;912;387;912;912	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	I	912;912;912;387	ENSP00000370630:T912I;ENSP00000450832:T912I;ENSP00000351352:T912I;ENSP00000440682:T387I	ENSP00000351352:T912I	T	+	2	0	SIPA1L1	71208068	1.000000	0.71417	0.800000	0.32199	0.062000	0.15995	2.643000	0.46604	-0.056000	0.13221	-0.188000	0.12872	ACC		0.418	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		T	72138315	C	T	72138315	3	4	323	1	0	0	0	0	1	0	0	0	14332	507	18	2	2761	2	SIPA1L1	14	72138315	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	7506200	72138315	35211225	125	17237											
YLPM1	56252	genome.wustl.edu	37	14	75287834	75287834	+	Silent	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr14:75287834C>T	ENST00000552421.1	+	16	4111	c.3987C>T	c.(3985-3987)agC>agT	p.S1329S	YLPM1_ENST00000546901.1_3'UTR|YLPM1_ENST00000325680.7_Silent_p.S2035S|YLPM1_ENST00000238571.3_Silent_p.S1800S			P49750	YLPM1_HUMAN	YLP motif containing 1	1840					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AAGAGGAAAGCGAACTGGTAG	0.343																																																0			14											69	82	78					14																	75287834		1819	4016	5835	74357587	SO:0001819	synonymous_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3987C>T	14.37:g.75287834C>T			74357587	P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	C	13.07	2.127033	0.37533	.	.	ENSG00000119596	ENST00000554107	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.5856	7.2335	0.26057	0.0:0.7954:0.0:0.2046	.	.	.	.	X	67	.	.	R	+	1	2	YLPM1	74357587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.274000	0.43390	2.609000	0.88269	0.655000	0.94253	CGA		0.343	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		T	75287834	C	T	75287834	2	4	323	1	0	0	0	0	0	0	0	1	17486	767	27	1		1	YLPM1	14	75287834	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	3149519	75287834	32061706	126	17238											
DISP2	85455	genome.wustl.edu	37	15	40659780	40659780	+	Silent	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr15:40659780G>T	ENST00000267889.3	+	8	1554	c.1467G>T	c.(1465-1467)acG>acT	p.T489T	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	489	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCAGGACACGGTGTACCCCT	0.627																																																0			15											109	102	104					15																	40659780		2203	4300	6503	38447072	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1467G>T	15.37:g.40659780G>T			38447072	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																				0.627	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		T	40659780	G	T	40659780	2	4	323	1	0	0	0	0	0	0	0	1	4540	1103	39	3		3	DISP2	15	40659780	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09		40659780	61871612	127	17239											
ELL3	80237	genome.wustl.edu	37	15	44068300	44068300	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr15:44068300A>G	ENST00000319359.3	-	3	859	c.218T>C	c.(217-219)gTg>gCg	p.V73A	RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'Flank|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	73					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		ACACTGGGACACTATGAAGGA	0.597																																																0			15											95	85	88					15																	44068300		2198	4298	6496	41855592	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.218T>C	15.37:g.44068300A>G	ENSP00000320346:p.Val73Ala		41855592	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	37	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326744	0.81690	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.32753	1.44;1.44	5.67	4.54	0.55810	.	0.235731	0.29900	N	0.010912	T	0.36358	0.0964	M	0.80028	2.48	0.29293	N	0.86919	B;B	0.16603	0.018;0.018	B;B	0.23419	0.046;0.046	T	0.41698	-0.9494	10	0.72032	D	0.01	-31.5468	8.3416	0.32247	0.9109:0.0:0.0891:0.0	.	73;27	Q9HB65;B3KQ66	ELL3_HUMAN;.	A	73;103	ENSP00000320346:V73A;ENSP00000404209:V103A	ENSP00000320346:V73A	V	-	2	0	ELL3	41855592	0.997000	0.39634	1.000000	0.80357	0.958000	0.62258	2.959000	0.49153	0.978000	0.38470	0.533000	0.62120	GTG		0.597	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		G	44068300	A	G	44068300	3	3	323	1	0	0	0	0	1	0	0	0	5064	159	6	4	1011	4	ELL3	15	44068300	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	3408520	44068300	58463092	128	17240											
AP4E1	23431	genome.wustl.edu	37	15	51233907	51233907	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr15:51233907G>T	ENST00000261842.5	+	10	1217	c.1111G>T	c.(1111-1113)Gct>Tct	p.A371S	AP4E1_ENST00000560508.1_Missense_Mutation_p.A296S	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	371					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCCTACTCTGGCTCTTCAACA	0.343																																																0			15											141	133	136					15																	51233907		2196	4293	6489	49021199	SO:0001583	missense	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1111G>T	15.37:g.51233907G>T	ENSP00000261842:p.Ala371Ser		49021199	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659963	0.67586	.	.	ENSG00000081014	ENST00000261842	T	0.13089	2.62	6.04	6.04	0.98038	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41448	-0.9508	10	0.72032	D	0.01	-17.7167	19.583	0.95478	0.0:0.0:1.0:0.0	.	371	Q9UPM8	AP4E1_HUMAN	S	371	ENSP00000261842:A371S	ENSP00000261842:A371S	A	+	1	0	AP4E1	49021199	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.473000	0.97714	2.873000	0.98535	0.563000	0.77884	GCT		0.343	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			T	51233907	G	T	51233907	3	4	323	1	0	0	0	0	1	0	0	0	752	1203	42	3	1149	3	AP4E1	15	51233907	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	7165607	51233907	51297485	129	17241											
SH2D7	646892	genome.wustl.edu	37	15	78393418	78393418	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr15:78393418T>A	ENST00000328828.5	+	5	823	c.823T>A	c.(823-825)Tcc>Acc	p.S275T	SH2D7_ENST00000409568.2_Missense_Mutation_p.S139T	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	275										endometrium(2)|kidney(2)|lung(3)	7						CCAGGCCTACTCCCCAGGCAG	0.637																																																0			15											23	28	26					15																	78393418		1940	4135	6075	76180473	SO:0001583	missense	0				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.823T>A	15.37:g.78393418T>A	ENSP00000327846:p.Ser275Thr		76180473		Missense_Mutation	SNP	ENST00000328828.5	37	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.807315	0.50421	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.46451	0.87;1.32	4.17	3.04	0.35103	.	0.848992	0.10108	N	0.715005	T	0.42086	0.1187	L	0.34521	1.04	0.09310	N	1	D	0.56968	0.978	P	0.55615	0.78	T	0.17198	-1.0377	10	0.27785	T	0.31	-13.078	6.242	0.20795	0.0:0.1158:0.0:0.8842	.	275	A6NKC9	SH2D7_HUMAN	T	139;275	ENSP00000386676:S139T;ENSP00000327846:S275T	ENSP00000327846:S275T	S	+	1	0	SH2D7	76180473	0.020000	0.18652	0.014000	0.15608	0.445000	0.32107	0.837000	0.27558	0.752000	0.32923	0.459000	0.35465	TCC		0.637	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		A	78393418	T	A	78393418	3	1	323	1	0	0	0	0	1	0	0	0	14242	1551	54	5	841	5	SH2D7	15	78393418	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	27159511	78393418	24137974	130	17242											
RASGRF1	5923	genome.wustl.edu	37	15	79290536	79290536	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr15:79290536G>C	ENST00000419573.3	-	20	3190	c.2916C>G	c.(2914-2916)aaC>aaG	p.N972K	RASGRF1_ENST00000394745.3_Missense_Mutation_p.N188K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.N956K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	972					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGAGCTCATCGTTGGTCTCAA	0.577																																																0			15											142	113	123					15																	79290536		2196	4293	6489	77077591	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2916C>G	15.37:g.79290536G>C	ENSP00000405963:p.Asn972Lys		77077591	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	5.692	0.312243	0.10789	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.31510	1.49;1.49	4.34	-8.68	0.00859	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.055954	0.64402	D	0.000002	T	0.38295	0.1035	M	0.62723	1.935	0.29427	N	0.860137	P;P;P;P	0.46784	0.884;0.645;0.696;0.798	P;B;B;B	0.51415	0.669;0.168;0.333;0.428	T	0.65512	-0.6150	10	0.72032	D	0.01	.	19.086	0.93203	0.822:0.0:0.178:0.0	.	368;956;974;956	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	972;956;188	ENSP00000405963:N972K;ENSP00000378228:N188K	ENSP00000378224:N956K	N	-	3	2	RASGRF1	77077591	0.002000	0.14202	0.001000	0.08648	0.119000	0.20118	-0.073000	0.11468	-3.154000	0.00230	-2.664000	0.00146	AAC		0.577	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		C	79290536	G	C	79290536	3	2	323	1	0	0	0	0	1	0	0	0	13075	1136	40	3	941	3	RASGRF1	15	79290536	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	897118	79290536	23240856	131	17243											
SRRM2	23524	genome.wustl.edu	37	16	2817697	2817697	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr16:2817697T>C	ENST00000301740.8	+	11	7717	c.7168T>C	c.(7168-7170)Tac>Cac	p.Y2390H	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2390	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTTTCTGCCTACGAGCGTGT	0.622																																																0			16											70	67	68					16																	2817697		2198	4300	6498	2757698	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7168T>C	16.37:g.2817697T>C	ENSP00000301740:p.Tyr2390His		2757698	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273211	0.23221	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78595	-1.19	5.77	5.77	0.91146	.	0.000000	0.56097	D	0.000022	T	0.79488	0.4454	N	0.19112	0.55	0.32618	N	0.523708	D	0.71674	0.998	D	0.78314	0.991	D	0.84213	0.0457	10	0.72032	D	0.01	-10.9935	12.479	0.55831	0.0:0.0:0.0:1.0	.	2390	Q9UQ35	SRRM2_HUMAN	H	2390;1642	ENSP00000301740:Y2390H	ENSP00000301740:Y2390H	Y	+	1	0	SRRM2	2757698	0.974000	0.33945	0.995000	0.50966	0.451000	0.32288	2.802000	0.47916	2.202000	0.70862	0.533000	0.62120	TAC		0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			C	2817697	T	C	2817697	3	2	323	1	0	0	0	0	1	0	0	0	15171	1522	53	4	7206	4	SRRM2	16	2817697	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09		2817697	87537056	132	17244											
ZNF434	54925	genome.wustl.edu	37	16	3433207	3433207	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr16:3433207C>T	ENST00000396852.4	-	7	2046	c.1739G>A	c.(1738-1740)gGg>gAg	p.G580E	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.G368E|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.G291E|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.G580E	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	580					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										CCCACATTGCCCACACTGATA	0.547																																																0			16											107	104	105					16																	3433207		2197	4300	6497	3373208	SO:0001583	missense	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1739G>A	16.37:g.3433207C>T	ENSP00000380061:p.Gly580Glu		3373208	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	C	7.862	0.726348	0.15439	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	3.68	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.02103	-0.685	0.09310	N	1	D;B	0.57257	0.979;0.135	P;B	0.57846	0.828;0.127	T	0.31752	-0.9932	9	0.20519	T	0.43	.	3.9447	0.09343	0.0:0.5669:0.1998:0.2333	.	368;580	Q9NX65;Q6WMU8	ZN434_HUMAN;.	E	368;580;580;291	ENSP00000302502:G368E;ENSP00000380061:G580E;ENSP00000380057:G580E;ENSP00000391787:G291E	ENSP00000302502:G368E	G	-	2	0	ZNF434	3373208	0.000000	0.05858	0.115000	0.21578	0.925000	0.55904	-2.046000	0.01409	0.109000	0.17891	0.655000	0.94253	GGG		0.547	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		T	3433207	C	T	3433207	3	4	323	1	0	0	0	0	1	0	0	0	17908	623	22	2	358	2	ZNF434	16	3433207	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	615510	3433207	86921546	133	17245											
EMP2	2013	genome.wustl.edu	37	16	10626768	10626768	+	Silent	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr16:10626768G>C	ENST00000359543.3	-	5	707	c.498C>G	c.(496-498)cgC>cgG	p.R166R	EMP2_ENST00000566033.1_5'Flank|RP11-27M24.1_ENST00000535363.1_RNA|EMP2_ENST00000536829.1_Silent_p.R166R	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	166					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						AACTCTATTTGCGCTTCCTCA	0.473																																					GBM(158;2021 2691 14714 39478)											0			16											83	77	79					16																	10626768		2197	4300	6497	10534269	SO:0001819	synonymous_variant	2013			U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.498C>G	16.37:g.10626768G>C			10534269	B2R7V6|D3DUF8	Silent	SNP	ENST00000359543.3	37	CCDS10541.1																																																																																				0.473	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424		C	10626768	G	C	10626768	2	2	323	1	0	0	0	0	0	0	0	1	5102	1306	46	3		3	EMP2	16	10626768	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09	7193561	10626768	79727985	134	17246											
ITGAL	3683	genome.wustl.edu	37	16	30528974	30528974	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr16:30528974C>G	ENST00000356798.6	+	27	3161	c.2981C>G	c.(2980-2982)cCt>cGt	p.P994R	ITGAL_ENST00000358164.5_Missense_Mutation_p.P910R|ITGAL_ENST00000433423.2_Missense_Mutation_p.P228R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	994					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCCTAGGAGCCTCCCGTGCCC	0.637																																					NSCLC(110;1462 1641 3311 33990 49495)											0			16											50	49	49					16																	30528974		2197	4300	6497	30436475	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2981C>G	16.37:g.30528974C>G	ENSP00000349252:p.Pro994Arg		30436475	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042193	0.55003	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.42131	0.98;0.98;0.98	5.13	5.13	0.70059	Integrin alpha-2 (1);	0.116668	0.39341	N	0.001387	T	0.63426	0.2510	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;D;D	0.79784	0.993;0.984;0.984	T	0.64850	-0.6310	10	0.54805	T	0.06	.	13.9512	0.64118	0.0:1.0:0.0:0.0	.	228;910;994	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	R	994;910;228	ENSP00000349252:P994R;ENSP00000350886:P910R;ENSP00000409377:P228R	ENSP00000349252:P994R	P	+	2	0	ITGAL	30436475	0.020000	0.18652	0.787000	0.31911	0.022000	0.10575	2.546000	0.45778	2.657000	0.90304	0.563000	0.77884	CCT		0.637	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			G	30528974	C	G	30528974	3	3	323	1	0	0	0	0	1	0	0	0	7886	681	24	3	3087	3	ITGAL	16	30528974	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	19902206	30528974	59825779	135	17247											
CDH8	1006	genome.wustl.edu	37	16	62055072	62055072	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr16:62055072G>A	ENST00000577390.1	-	2	1190	c.236C>T	c.(235-237)cCg>cTg	p.P79L	CDH8_ENST00000299345.6_Missense_Mutation_p.P79L|CDH8_ENST00000577730.1_Missense_Mutation_p.P79L|CDH8_ENST00000584337.1_Missense_Mutation_p.P79L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AACAAGAATCGGTTCAGGTCC	0.413																																																0			16											58	56	57					16																	62055072		2203	4299	6502	60612573	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.236C>T	16.37:g.62055072G>A	ENSP00000462701:p.Pro79Leu		60612573	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093724	0.94149	.	.	ENSG00000150394	ENST00000299345	T	0.00753	5.74	6.03	6.03	0.97812	Cadherin (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.02888	0.0086	M	0.90252	3.1	0.80722	D	1	B	0.22080	0.064	B	0.20577	0.03	T	0.32745	-0.9895	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	79	P55286	CADH8_HUMAN	L	79	ENSP00000299345:P79L	ENSP00000299345:P79L	P	-	2	0	CDH8	60612573	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.395000	0.97266	2.861000	0.98227	0.655000	0.94253	CCG		0.413	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		A	62055072	G	A	62055072	3	1	323	1	0	0	0	0	1	0	0	0	3116	1116	39	1	2207	1	CDH8	16	62055072	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	31526098	62055072	28299681	136	17248											
TSNAXIP1	55815	genome.wustl.edu	37	16	67857529	67857554	+	Splice_Site	DEL	CCTTACAGAGAGATCTTTGAGTTCTT	CCTTACAGAGAGATCTTTGAGTTCTT	-			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	CCTTACAGAGAGATCTTTGAGTTCTT	CCTTACAGAGAGATCTTTGAGTTCTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr16:67857529_67857554delCCTTACAGAGAGATCTTTGAGTTCTT	ENST00000388833.3	+	5	603_628	c.226_251delCCTTACAGAGAGATCTTTGAGTTCTT	c.(226-252)ccttacagagagatctttgagttcttc>c	p.PYREIFEFF76fs	TSNAXIP1_ENST00000561639.1_Splice_Site_p.PYREIFEFF130fs|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1									p.E79*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TTCTTGCCAGCCTTACAGAGAGATCTTTGAGTTCTTCATAGAGGAC	0.482																																																1	Substitution - Nonsense(1)	large_intestine(1)	16																																								66415055	SO:0001630	splice_region_variant	55815			AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.226-1CCTTACAGAGAGATCTTTGAGTTCTT>-	16.37:g.67857529_67857554delCCTTACAGAGAGATCTTTGAGTTCTT			66415030		Frame_Shift_Del	DEL	ENST00000388833.3	37	CCDS10846.2																																																																																				0.482	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430	Frame_Shift_Del	-	67857554	CCTTACAGAGAGATCTTTGAGTTCTT	-	67857529	8	5	323	1	0	1	0	1	0	0	1	0	16632	753	26	0	236	0	TSNAXIP1	16	67857529	Splice_Site	DEL	CCTTACAGAGAGATCTTTGAGTTCTT	TCGA-29-1691-01A-01W-0633-09	5802457	67857529	22497224	137	17249											
MARVELD3	91862	genome.wustl.edu	37	16	71674836	71674836	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr16:71674836G>A	ENST00000299952.4	+	3	1182	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	383	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGGCCCTGCGTAGCTACCGA	0.572																																																0			16											55	44	48					16																	71674836		2198	4300	6498	70232337	SO:0001583	missense	91862			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1139G>A	16.37:g.71674836G>A	ENSP00000299952:p.Arg380His		70232337	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	CCDS32478.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671990	0.67928	.	.	ENSG00000140832	ENST00000299952	D	0.87412	-2.25	5.67	4.72	0.59763	.	0.152170	0.52532	D	0.000067	D	0.90359	0.6983	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.59288	0.855	D	0.90300	0.4329	9	0.87932	D	0	-25.0948	7.3175	0.26509	0.0844:0.0:0.7485:0.1671	.	380	Q96A59-2	.	H	380	ENSP00000299952:R380H	ENSP00000299952:R380H	R	+	2	0	MARVELD3	70232337	0.993000	0.37304	0.971000	0.41717	0.672000	0.39443	1.081000	0.30791	1.407000	0.46875	0.655000	0.94253	CGT		0.572	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		A	71674836	G	A	71674836	3	1	323	1	0	0	0	0	1	0	0	0	9319	1145	40	1	1764	1	MARVELD3	16	71674836	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	3817307	71674836	18679917	138	17250											
TP53	7157	genome.wustl.edu	37	17	7577599	7577600	+	Frame_Shift_Ins	INS	-	-	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr17:7577599_7577600insA	ENST00000269305.4	-	7	870_871	c.681_682insT	c.(679-684)tctgacfs	p.D228fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.D228fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D228fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D228fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.D228fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.D228fs	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	228	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.D228N(6)|p.?(5)|p.S227S(3)|p.D228Y(2)|p.?fs(2)|p.V225_S227delVGS(2)|p.S227fs*1(1)|p.G226_D228delGSD(1)|p.D228fs*1(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.D228fs*11(1)|p.S227_I232delSDCTTI(1)|p.D228H(1)|p.D228fs*19(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)	GTGGTACAGTCAGAGCCAACCT	0.525		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"	37	Substitution - Missense(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(3)|Substitution - coding silent(3)	biliary_tract(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(4)|breast(4)|bone(4)|oesophagus(2)|lung(2)|ovary(2)|liver(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|pancreas(1)	17																																								7518325	SO:0001589	frameshift_variant	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.682dupT	17.37:g.7577600_7577600dupA	ENSP00000269305:p.Asp228fs		7518324	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.525	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577600	-	A	7577599	7	5	323	1	0	1	1	0	0	0	0	0	16381	826	29	0	608	0	TP53	17	7577599	Frame_Shift_Ins	INS	-	TCGA-29-1691-01A-01W-0633-09		7577599	73617611	139	17251											
PHF12	57649	genome.wustl.edu	37	17	27234624	27234624	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr17:27234624C>T	ENST00000332830.4	-	13	3335	c.2525G>A	c.(2524-2526)tGc>tAc	p.C842Y	PHF12_ENST00000582655.1_5'Flank|PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTAGAATATGCAGGCATGTTT	0.547																																																0			17											110	86	94					17																	27234624		2203	4300	6503	24258750	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2525G>A	17.37:g.27234624C>T	ENSP00000329933:p.Cys842Tyr		24258750		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355731	0.82243	.	.	ENSG00000109118	ENST00000332830	T	0.40756	1.02	4.34	4.34	0.51931	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.61218	1.895	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.66356	-0.5944	10	0.87932	D	0	-33.9633	15.5957	0.76578	0.0:1.0:0.0:0.0	.	824;842	B4DFE2;Q96QT6	.;PHF12_HUMAN	Y	842	ENSP00000329933:C842Y	ENSP00000329933:C842Y	C	-	2	0	PHF12	24258750	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.130000	0.77235	2.221000	0.72209	0.467000	0.42956	TGC		0.547	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		T	27234624	C	T	27234624	3	4	323	1	0	0	0	0	1	0	0	0	11823	710	25	2	501	2	PHF12	17	27234624	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	19657025	27234624	53960586	140	17252											
C17orf66	256957	genome.wustl.edu	37	17	34193737	34193737	+	Silent	SNP	G	G	A	rs113048475		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr17:34193737G>A	ENST00000311880.2	-	2	277	c.129C>T	c.(127-129)tcC>tcT	p.S43S	AC015849.2_ENST00000413928.1_RNA|C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Silent_p.S43S	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		43					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTGGTAGCAGGACAAGGGCA	0.498																																																0			17											152	134	140					17																	34193737		2203	4300	6503	31217850	SO:0001819	synonymous_variant	256957																														ENST00000311880.2:c.129C>T	17.37:g.34193737G>A			31217850	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	CCDS11299.1																																																																																				0.498	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			A	34193737	G	A	34193737	2	1	323	1	0	0	0	0	0	0	0	1	1874	987	35	2		2	C17orf66	17	34193737	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09	6959113	34193737	47001473	141	17253											
KRT13	3860	genome.wustl.edu	37	17	39659299	39659325	+	In_Frame_Del	DEL	CCATCTCCACGTTGACCTGGCCGACCA	CCATCTCCACGTTGACCTGGCCGACCA	-	rs147564962|rs140780704|rs375023751|rs150947773|rs200839212|rs369163489	byFrequency	TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	CCATCTCCACGTTGACCTGGCCGACCA	CCATCTCCACGTTGACCTGGCCGACCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr17:39659299_39659325delCCATCTCCACGTTGACCTGGCCGACCA	ENST00000246635.3	-	4	807_833	c.761_787delTGGTCGGCCAGGTCAACGTGGAGATGG	c.(760-789)gtggtcggccaggtcaacgtggagatggat>gat	p.VVGQVNVEM254del	KRT13_ENST00000587544.1_In_Frame_Del_p.VVGQVNVEM254del|KRT13_ENST00000336861.3_In_Frame_Del_p.VVGQVNVEM254del|KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	254	Linker 12.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGGGTGGCATCCATCTCCACGTTGACCTGGCCGACCACCTGGTTGCT	0.581																																																0			17																																								36912851	SO:0001651	inframe_deletion	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.761_787delTGGTCGGCCAGGTCAACGTGGAGATGG	17.37:g.39659299_39659325delCCATCTCCACGTTGACCTGGCCGACCA	ENSP00000246635:p.Val254_Met262del		36912825	Q53G54|Q6AZK5|Q8N240	In_Frame_Del	DEL	ENST00000246635.3	37	CCDS11396.1																																																																																				0.581	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		-	39659325	CCATCTCCACGTTGACCTGGCCGACCA	-	39659299	7	5	323	1	0	1	0	1	0	0	0	0	8450	855	30	0	609	0	KRT13	17	39659299	In_Frame_Del	DEL	CCATCTCCACGTTGACCTGGCCGACCA	TCGA-29-1691-01A-01W-0633-09	5465562	39659299	41535911	142	17254											
MPP3	4356	genome.wustl.edu	37	17	41886367	41886367	+	Missense_Mutation	SNP	G	G	A	rs202078532	byFrequency	TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr17:41886367G>A	ENST00000398389.4	-	19	1703	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M	MPP3_ENST00000398393.1_Missense_Mutation_p.T538M	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	513	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATAGGTGGCGTTTTTCTTTT	0.408													G|||	3	0.000599042	0	0	5008	,	,		18489	0		0.001	False		,,,				2504	0.002															0			17						G	MET/THR	0,3658		0,0,1829	136	133	134		1538	2.9	0.9	17		134	1,8159		0,1,4079	yes	missense	MPP3	NM_001932.4	81	0,1,5908	AA,AG,GG		0.0123,0.0,0.0085	benign	513/586	41886367	1,11817	1829	4080	5909	39241893	SO:0001583	missense	4356				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1538C>T	17.37:g.41886367G>A	ENSP00000381425:p.Thr513Met		39241893	B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366648	0.41902	0.0	1.23E-4	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.45668	0.89;0.89	5.06	2.94	0.34122	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.368200	0.30068	N	0.010486	T	0.28665	0.0710	L	0.34521	1.04	0.37191	D	0.903938	B;B	0.15930	0.015;0.015	B;B	0.20184	0.017;0.028	T	0.20840	-1.0263	10	0.45353	T	0.12	.	6.184	0.20488	0.0935:0.0:0.6495:0.257	.	513;538	Q13368;D3DX46	MPP3_HUMAN;.	M	538;513	ENSP00000381430:T538M;ENSP00000381425:T513M	ENSP00000381425:T513M	T	-	2	0	MPP3	39241893	0.517000	0.26226	0.891000	0.34965	0.914000	0.54420	0.961000	0.29267	1.491000	0.48482	0.655000	0.94253	ACG		0.408	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		A	41886367	G	A	41886367	3	1	323	1	0	0	0	0	1	0	0	0	9735	1145	40	1	227	1	MPP3	17	41886367	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	2227068	41886367	39308843	143	17255											
MRC2	9902	genome.wustl.edu	37	17	60768059	60768059	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr17:60768059C>A	ENST00000303375.5	+	27	4351	c.3949C>A	c.(3949-3951)Cac>Aac	p.H1317N	MRC2_ENST00000446119.2_Missense_Mutation_p.H183N	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1317	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGTCTGGGAGCACCTGCAGAG	0.622																																																0			17											77	77	77					17																	60768059		2203	4300	6503	58121791	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3949C>A	17.37:g.60768059C>A	ENSP00000307513:p.His1317Asn		58121791	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.262031	0.59431	.	.	ENSG00000011028	ENST00000303375;ENST00000446119	T;T	0.07688	3.17;3.17	4.14	3.17	0.36434	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	L	0.33485	1.01	0.53688	D	0.999976	P;P	0.51240	0.912;0.943	P;P	0.58873	0.673;0.847	T	0.06075	-1.0847	10	0.27785	T	0.31	-22.806	12.1015	0.53788	0.0:0.9157:0.0:0.0843	.	183;1317	E7EME3;Q9UBG0	.;MRC2_HUMAN	N	1317;183	ENSP00000307513:H1317N;ENSP00000400445:H183N	ENSP00000307513:H1317N	H	+	1	0	MRC2	58121791	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.615000	0.67702	0.954000	0.37851	-0.254000	0.11334	CAC		0.622	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			A	60768059	C	A	60768059	3	1	323	1	0	0	0	0	1	0	0	0	9758	710	25	3	4055	3	MRC2	17	60768059	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	18881692	60768059	20427151	144	17256											
SDK2	54549	genome.wustl.edu	37	17	71384151	71384151	+	Silent	SNP	C	C	T	rs147384840	byFrequency	TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr17:71384151C>T	ENST00000392650.3	-	30	4218	c.4218G>A	c.(4216-4218)ccG>ccA	p.P1406P	SDK2_ENST00000388726.3_Silent_p.P1406P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1406	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTGCACCATCGGCCTGCTGG	0.682													C|||	16	0.00319489	8e-04	0.0072	5008	,	,		16365	0		0.004	False		,,,				2504	0.0061															0			17						C		4,4368		0,4,2182	12	11	11		4218	-9	0.2	17	dbSNP_134	11	59,8477		0,59,4209	no	coding-synonymous	SDK2	NM_001144952.1		0,63,6391	TT,TC,CC		0.6912,0.0915,0.4881		1406/2173	71384151	63,12845	2186	4268	6454	68895746	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4218G>A	17.37:g.71384151C>T			68895746	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1																																																																																				0.682	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		T	71384151	C	T	71384151	2	4	323	1	0	0	0	0	0	0	0	1	13972	871	31	1		1	SDK2	17	71384151	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	10616092	71384151	9811059	145	17257											
PIAS2	9063	genome.wustl.edu	37	18	44435553	44435553	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr18:44435553C>A	ENST00000585916.1	-	4	609	c.610G>T	c.(610-612)Gat>Tat	p.D204Y	PIAS2_ENST00000324794.7_Missense_Mutation_p.D204Y|PIAS2_ENST00000545673.1_5'UTR	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	204	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ACTGTATAATCTCTCCTACCA	0.353																																																0			18											75	76	76					18																	44435553		2203	4300	6503	42689551	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.610G>T	18.37:g.44435553C>A	ENSP00000465676:p.Asp204Tyr		42689551	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443747	0.63067	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.48201	0.82	5.45	5.45	0.79879	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.76574	2.34	0.80722	D	1	B;B;B;P	0.36874	0.314;0.18;0.072;0.572	B;B;B;B	0.44278	0.17;0.248;0.111;0.445	T	0.64888	-0.6301	10	0.87932	D	0	-1.3067	19.2762	0.94032	0.0:1.0:0.0:0.0	.	208;204;204;204	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	Y	204;204;200;204	ENSP00000317163:D204Y	ENSP00000262161:D204Y	D	-	1	0	PIAS2	42689551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.286000	0.78671	2.553000	0.86117	0.591000	0.81541	GAT		0.353	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		A	44435553	C	A	44435553	3	1	323	1	0	0	0	0	1	0	0	0	11876	913	32	3	1374	3	PIAS2	18	44435553	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09		44435553	33641695	146	17258											
SKA1	220134	genome.wustl.edu	37	18	47902254	47902254	+	Silent	SNP	C	C	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr18:47902254C>T	ENST00000285116.3	+	2	265	c.54C>T	c.(52-54)ggC>ggT	p.G18G	SKA1_ENST00000417656.2_Silent_p.G18G|SKA1_ENST00000398452.2_Silent_p.G18G|SKA1_ENST00000488454.1_5'UTR	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	18					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						AAAAGATTGGCAATATTAAGA	0.318																																																0			18											88	91	90					18																	47902254		2203	4300	6503	46156252	SO:0001819	synonymous_variant	220134			BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.54C>T	18.37:g.47902254C>T			46156252	B2R9Y6|B4E0P4	Silent	SNP	ENST00000285116.3	37	CCDS11946.1																																																																																				0.318	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		T	47902254	C	T	47902254	2	4	323	1	0	0	0	0	0	0	0	1	14355	697	25	2		2	SKA1	18	47902254	Silent	SNP	C	TCGA-29-1691-01A-01W-0633-09	3466701	47902254	30174994	147	17259											
SERPINB3	6317	genome.wustl.edu	37	18	61324221	61324221	+	Splice_Site	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr18:61324221C>A	ENST00000283752.5	-	7	756		c.e7-1		SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3						negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTATGTATTCTACAATAAAT	0.358																																																0			18											100	84	90					18																	61324221		2203	4300	6503	59475201	SO:0001630	splice_region_variant	6317			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.613-1G>T	18.37:g.61324221C>A			59475201	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Splice_Site	SNP	ENST00000283752.5	37	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	3.890	-0.024173	0.07634	.	.	ENSG00000057149	ENST00000283752	.	.	.	2.64	0.75	0.18387	.	.	.	.	.	.	.	.	.	.	.	0.21290	N	0.999732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8927	0.24238	0.0:0.7156:0.1777:0.1067	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINB3	59475201	0.988000	0.35896	0.001000	0.08648	0.016000	0.09150	3.074000	0.50065	0.181000	0.19994	0.455000	0.32223	.		0.358	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919	Intron	A	61324221	C	A	61324221	5	1	323	1	0	0	0	0	0	0	1	0	14105	927	32	3	568	3	SERPINB3	18	61324221	Splice_Site	SNP	C	TCGA-29-1691-01A-01W-0633-09	13421967	61324221	16753027	148	17260											
SERPINB2	5055	genome.wustl.edu	37	18	61569115	61569115	+	Splice_Site	SNP	C	C	G	rs141012637		TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr18:61569115C>G	ENST00000299502.4	+	6	757	c.677C>G	c.(676-678)tCg>tGg	p.S226W	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Splice_Site_p.S226W	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	226					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CGTGTAAACTCGGTATGAGAC	0.378																																																0			18											90	94	92					18																	61569115		2203	4300	6503	59720095	SO:0001630	splice_region_variant	5055			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.678+1C>G	18.37:g.61569115C>G			59720095	Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076690	0.55753	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	T;T	0.12361	2.69;2.69	5.79	-6.43	0.01926	Serpin domain (3);	1.451420	0.03810	N	0.265745	T	0.31104	0.0786	M	0.76938	2.355	0.58432	D	0.999998	D;D	0.62365	0.991;0.991	P;P	0.58928	0.848;0.772	T	0.59904	-0.7366	10	0.87932	D	0	.	10.4209	0.44350	0.143:0.1777:0.0:0.6794	.	226;226	B2R7Y0;P05120	.;PAI2_HUMAN	W	226	ENSP00000299502:S226W;ENSP00000401645:S226W	ENSP00000299502:S226W	S	+	2	0	SERPINB2	59720095	0.000000	0.05858	0.012000	0.15200	0.822000	0.46500	-1.505000	0.02273	-1.252000	0.02491	-0.142000	0.14014	TCG		0.378	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	Missense_Mutation	G	61569115	C	G	61569115	5	3	323	1	0	0	0	0	0	0	1	0	14104	898	31	3	695	3	SERPINB2	18	61569115	Splice_Site	SNP	C	TCGA-29-1691-01A-01W-0633-09	244894	61569115	16508133	149	17261											
MUC16	94025	genome.wustl.edu	37	19	9066621	9066621	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:9066621T>C	ENST00000397910.4	-	3	21028	c.20825A>G	c.(20824-20826)aAg>aGg	p.K6942R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6944	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACTCTCTCTTAATTTTTGT	0.438																																																0			19											209	197	201					19																	9066621		1936	4151	6087	8927621	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20825A>G	19.37:g.9066621T>C	ENSP00000381008:p.Lys6942Arg		8927621	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.346	0.249224	0.10130	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	2.77	0.516	0.17019	.	.	.	.	.	T	0.02267	0.0070	N	0.22421	0.69	.	.	.	B	0.31968	0.349	B	0.34385	0.181	T	0.41716	-0.9493	8	0.87932	D	0	.	2.8085	0.05434	0.0:0.1562:0.271:0.5728	.	6942	B5ME49	.	R	6942	ENSP00000381008:K6942R	ENSP00000381008:K6942R	K	-	2	0	MUC16	8927621	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.269000	0.02834	0.034000	0.15491	0.334000	0.21626	AAG		0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9066621	T	C	9066621	3	2	323	1	0	0	0	0	1	0	0	0	9973	1609	56	4	23026	4	MUC16	19	9066621	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09		9066621	50062362	150	17262											
COL5A3	50509	genome.wustl.edu	37	19	10112511	10112511	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:10112511G>A	ENST00000264828.3	-	7	981	c.896C>T	c.(895-897)cCt>cTt	p.P299L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	299	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGGTCGGAGGCAGATTTGG	0.582											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											150	125	133					19																	10112511		2203	4300	6503	9973511	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.896C>T	19.37:g.10112511G>A	ENSP00000264828:p.Pro299Leu	662	9973511	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484414	0.63962	.	.	ENSG00000080573	ENST00000264828	D	0.89050	-2.46	4.95	2.72	0.32119	.	1.820960	0.03253	N	0.182170	T	0.81508	0.4837	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65298	-0.6202	10	0.29301	T	0.29	.	4.8679	0.13618	0.1159:0.0:0.6767:0.2074	.	299	P25940	CO5A3_HUMAN	L	299	ENSP00000264828:P299L	ENSP00000264828:P299L	P	-	2	0	COL5A3	9973511	0.012000	0.17670	0.019000	0.16419	0.796000	0.44982	0.672000	0.25187	0.588000	0.29660	0.462000	0.41574	CCT		0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		A	10112511	G	A	10112511	3	1	323	1	0	0	0	0	1	0	0	0	3698	1000	35	2	4585	2	COL5A3	19	10112511	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	1045890	10112511	49016472	151	17263											
HAPLN4	404037	genome.wustl.edu	37	19	19371771	19371771	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:19371771T>G	ENST00000291481.7	-	3	398	c.335A>C	c.(334-336)tAc>tCc	p.Y112S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	112	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CCGCCCACGGTAGCTGCCGAA	0.677																																																0			19											44	46	45					19																	19371771		2203	4299	6502	19232771	SO:0001583	missense	404037			AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.335A>C	19.37:g.19371771T>G	ENSP00000291481:p.Tyr112Ser		19232771	A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035748	0.75617	.	.	ENSG00000187664	ENST00000291481	T	0.67523	-0.27	4.52	4.52	0.55395	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.077106	0.53938	D	0.000051	T	0.80859	0.4704	M	0.87547	2.89	0.42077	D	0.991235	D	0.76494	0.999	D	0.72982	0.979	T	0.83031	-0.0162	10	0.87932	D	0	-32.2415	7.3886	0.26897	0.1942:0.0:0.0:0.8058	.	112	Q86UW8	HPLN4_HUMAN	S	112	ENSP00000291481:Y112S	ENSP00000291481:Y112S	Y	-	2	0	HAPLN4	19232771	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.291000	0.43540	1.890000	0.54733	0.459000	0.35465	TAC		0.677	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		G	19371771	T	G	19371771	3	3	323	1	0	0	0	0	1	0	0	0	6957	1638	57	5	885	5	HAPLN4	19	19371771	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	9259260	19371771	39757212	152	17264											
TSHZ3	57616	genome.wustl.edu	37	19	31767779	31767779	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:31767779G>C	ENST00000240587.4	-	2	3247	c.2920C>G	c.(2920-2922)Ccc>Gcc	p.P974A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	974					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAGAAGACGGGGTGGCCAGTG	0.517																																																0			19											70	65	67					19																	31767779		2203	4300	6503	36459619	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2920C>G	19.37:g.31767779G>C	ENSP00000240587:p.Pro974Ala		36459619	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237381	0.79800	.	.	ENSG00000121297	ENST00000240587	T	0.17054	2.3	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.10730	-1.0617	10	0.87932	D	0	-26.5514	20.1434	0.98067	0.0:0.0:1.0:0.0	.	974	Q63HK5	TSH3_HUMAN	A	974	ENSP00000240587:P974A	ENSP00000240587:P974A	P	-	1	0	TSHZ3	36459619	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.441000	0.97557	2.760000	0.94817	0.591000	0.81541	CCC		0.517	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		C	31767779	G	C	31767779	3	2	323	1	0	0	0	0	1	0	0	0	16625	1232	43	3	329	3	TSHZ3	19	31767779	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	12396008	31767779	27361204	153	17265											
AXL	558	genome.wustl.edu	37	19	41749581	41749581	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:41749581G>C	ENST00000301178.4	+	12	1696	c.1506G>C	c.(1504-1506)aaG>aaC	p.K502N	AXL_ENST00000593513.1_Missense_Mutation_p.K234N|AXL_ENST00000359092.3_Missense_Mutation_p.K493N	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	502					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCGTGCGCAAGTCCTACAGTC	0.567																																																0			19											168	145	153					19																	41749581		2203	4300	6503	46441421	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1506G>C	19.37:g.41749581G>C	ENSP00000301178:p.Lys502Asn		46441421	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	g	17.63	3.437017	0.62955	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.76060	-0.99;-0.95	3.9	0.517	0.17025	.	0.224766	0.37012	N	0.002294	T	0.74114	0.3674	L	0.46157	1.445	0.28837	N	0.896829	D;D	0.59357	0.985;0.975	P;P	0.58620	0.842;0.698	T	0.67511	-0.5652	10	0.62326	D	0.03	-13.1221	6.874	0.24137	0.5098:0.0:0.4902:0.0	.	493;502	P30530-2;P30530	.;UFO_HUMAN	N	502;493	ENSP00000301178:K502N;ENSP00000351995:K493N	ENSP00000301178:K502N	K	+	3	2	AXL	46441421	0.999000	0.42202	0.999000	0.59377	0.982000	0.71751	0.489000	0.22387	0.097000	0.17492	0.549000	0.68633	AAG		0.567	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			C	41749581	G	C	41749581	3	2	323	1	0	0	0	0	1	0	0	0	1238	1020	36	3	1552	3	AXL	19	41749581	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	9981802	41749581	17379402	154	17266											
ZNF233	353355	genome.wustl.edu	37	19	44778683	44778683	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:44778683A>T	ENST00000391958.2	+	5	1997	c.1870A>T	c.(1870-1872)Atg>Ttg	p.M624L	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.M606L|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TAAATGTGGCATGTGTGGTAA	0.428																																																0			19											101	99	100					19																	44778683		2203	4300	6503	49470523	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1870A>T	19.37:g.44778683A>T	ENSP00000375820:p.Met624Leu		49470523	B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990030	0.35131	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.06068	3.35;3.35	4.08	-3.41	0.04839	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.00510	-1.415	0.09310	N	1	B	0.23490	0.086	B	0.22152	0.038	T	0.47861	-0.9084	9	0.72032	D	0.01	-0.3414	10.3474	0.43913	0.155:0.1483:0.6966:0.0	.	624	A6NK53	ZN233_HUMAN	L	606;624;519	ENSP00000334957:M606L;ENSP00000375820:M624L	ENSP00000280305:M519L	M	+	1	0	ZNF233	49470523	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	-1.742000	0.01835	-0.255000	0.09486	0.496000	0.49642	ATG		0.428	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		T	44778683	A	T	44778683	3	4	323	1	0	0	0	0	1	0	0	0	17786	217	8	5	1884	5	ZNF233	19	44778683	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	3029102	44778683	14350300	155	17267											
EHD2	30846	genome.wustl.edu	37	19	48229101	48229101	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:48229101G>T	ENST00000263277.3	+	4	786	c.535G>T	c.(535-537)Gcg>Tcg	p.A179S	EHD2_ENST00000538399.1_Missense_Mutation_p.A43S|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	179	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GCGCTGGTTCGCGGAGCGCGT	0.637																																																0			19											39	36	37					19																	48229101		2203	4300	6503	52920913	SO:0001583	missense	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.535G>T	19.37:g.48229101G>T	ENSP00000263277:p.Ala179Ser		52920913	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642101	0.87859	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	D;D	0.97114	-4.25;-4.25	3.52	3.52	0.40303	Dynamin, GTPase domain (1);	0.065812	0.64402	D	0.000015	D	0.98169	0.9395	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98563	1.0642	10	0.62326	D	0.03	-26.7688	12.9714	0.58515	0.0:0.0:1.0:0.0	.	179	Q9NZN4	EHD2_HUMAN	S	179;179;169;43	ENSP00000263277:A179S;ENSP00000439036:A43S	ENSP00000263277:A179S	A	+	1	0	EHD2	52920913	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	7.814000	0.86154	1.702000	0.51228	0.456000	0.33151	GCG		0.637	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			T	48229101	G	T	48229101	3	4	323	1	0	0	0	0	1	0	0	0	4978	1087	38	3	545	3	EHD2	19	48229101	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	3450418	48229101	10899882	156	17268											
TRPM4	54795	genome.wustl.edu	37	19	49686045	49686045	+	Missense_Mutation	SNP	A	A	G	rs568416785	byFrequency	TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:49686045A>G	ENST00000252826.5	+	11	1600	c.1474A>G	c.(1474-1476)Aaa>Gaa	p.K492E	TRPM4_ENST00000427978.2_Missense_Mutation_p.K492E|TRPM4_ENST00000355712.5_Missense_Mutation_p.K138E	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	492			Missing.		calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.K487_L498delKAPALKGGAAEL(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCAGCCCTAAAAGGGGGAGC	0.692																																																1	Deletion - In frame(1)	ovary(1)	19											20	23	22					19																	49686045		2201	4293	6494	54377857	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1474A>G	19.37:g.49686045A>G	ENSP00000252826:p.Lys492Glu		54377857	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	a	0.885	-0.727440	0.03158	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.58652	0.38;0.32;0.51	4.18	-0.663	0.11410	.	0.710584	0.13350	N	0.394503	T	0.25568	0.0622	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27351	0.176;0.019;0.123;0.003	B;B;B;B	0.26517	0.07;0.019;0.057;0.002	T	0.26258	-1.0108	10	0.05721	T	0.95	-0.1134	4.1806	0.10374	0.4688:0.0:0.3709:0.1603	.	138;318;492;492	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	E	492;492;138	ENSP00000252826:K492E;ENSP00000407492:K492E;ENSP00000347944:K138E	ENSP00000252826:K492E	K	+	1	0	TRPM4	54377857	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	1.066000	0.30604	-0.138000	0.11434	0.358000	0.22013	AAA		0.692	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		G	49686045	A	G	49686045	3	3	323	1	0	0	0	0	1	0	0	0	16588	15	1	4	1516	4	TRPM4	19	49686045	Missense_Mutation	SNP	A	TCGA-29-1691-01A-01W-0633-09	1456944	49686045	9442938	157	17269											
ZNF766	90321	genome.wustl.edu	37	19	52785429	52785429	+	Silent	SNP	T	T	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:52785429T>A	ENST00000439461.1	+	2	127	c.84T>A	c.(82-84)ccT>ccA	p.P28P	ZNF766_ENST00000593612.1_Silent_p.P43P|CTD-2525I3.5_ENST00000594865.1_RNA|MIR643_ENST00000385267.1_RNA|ZNF766_ENST00000599581.1_Silent_p.P28P|ZNF766_ENST00000359102.4_Silent_p.P43P|ZNF766_ENST00000600821.1_Silent_p.P23P	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GCCTGGACCCTGTGCAGAAGG	0.488																																																0			19											177	181	180					19																	52785429		2203	4300	6503	57477241	SO:0001819	synonymous_variant	90321			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.84T>A	19.37:g.52785429T>A			57477241	B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	CCDS46163.1																																																																																				0.488	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		A	52785429	T	A	52785429	2	1	323	1	0	0	0	0	0	0	0	1	18140	1567	55	5		5	ZNF766	19	52785429	Silent	SNP	T	TCGA-29-1691-01A-01W-0633-09	3099384	52785429	6343554	158	17270											
LILRB2	10288	genome.wustl.edu	37	19	54782895	54782895	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:54782895G>A	ENST00000391749.4	-	6	998	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	LILRB2_ENST00000391746.1_Missense_Mutation_p.L243F|LILRB2_ENST00000434421.1_Missense_Mutation_p.L127F|LILRB2_ENST00000314446.5_Missense_Mutation_p.L243F|LILRB2_ENST00000391748.1_Missense_Mutation_p.L243F|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	243	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACACACTGGAGGGTCAGGCTT	0.597																																																0			19											96	98	97					19																	54782895		2203	4300	6503	59474707	SO:0001583	missense	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.727C>T	19.37:g.54782895G>A	ENSP00000375629:p.Leu243Phe		59474707	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811382	0.50527	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.01665	4.7;4.7;4.7;4.7;4.7	2.6	0.0235	0.14137	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.172078	0.27406	N	0.019504	T	0.05868	0.0153	M	0.78456	2.415	0.19945	N	0.999944	P;P;P	0.41848	0.727;0.757;0.763	P;P;P	0.53266	0.651;0.722;0.582	T	0.05402	-1.0887	10	0.72032	D	0.01	.	8.6243	0.33879	0.0:0.4567:0.5433:0.0	.	243;260;243	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	F	243;243;243;243;127	ENSP00000375628:L243F;ENSP00000319960:L243F;ENSP00000375629:L243F;ENSP00000375626:L243F;ENSP00000410117:L127F	ENSP00000319960:L243F	L	-	1	0	LILRB2	59474707	0.984000	0.35163	0.045000	0.18777	0.179000	0.23085	0.699000	0.25586	-0.043000	0.13513	0.449000	0.29647	CTC		0.597	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			A	54782895	G	A	54782895	3	1	323	1	0	0	0	0	1	0	0	0	8791	1000	35	2	1105	2	LILRB2	19	54782895	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	1997466	54782895	4346088	159	17271											
ZNF773	374928	genome.wustl.edu	37	19	58016107	58016107	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr19:58016107T>C	ENST00000282292.4	+	2	256	c.116T>C	c.(115-117)cTc>cCc	p.L39P	ZNF773_ENST00000593916.1_Missense_Mutation_p.L38P|ZNF773_ENST00000599847.1_Missense_Mutation_p.L39P|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000598770.1_Missense_Mutation_p.L38P	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAGAGGCTCCTCTACCGCAAT	0.532																																																0			19											143	122	129					19																	58016107		2203	4297	6500	62707919	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.116T>C	19.37:g.58016107T>C	ENSP00000282292:p.Leu39Pro		62707919	Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849753	0.32699	.	.	ENSG00000152439	ENST00000332030;ENST00000282292	T	0.05513	3.43	1.39	1.39	0.22231	Krueppel-associated box (4);	.	.	.	.	T	0.34774	0.0909	H	0.98089	4.145	0.24527	N	0.994139	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.11372	-1.0590	9	0.87932	D	0	.	6.8571	0.24046	0.0:0.0:0.0:1.0	.	38;39	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	P	62;39	ENSP00000282292:L39P	ENSP00000282292:L39P	L	+	2	0	ZNF773	62707919	0.115000	0.22152	0.027000	0.17364	0.765000	0.43378	3.925000	0.56484	0.898000	0.36418	0.254000	0.18369	CTC		0.532	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		C	58016107	T	C	58016107	3	2	323	1	0	0	0	0	1	0	0	0	18146	1551	54	4	122	4	ZNF773	19	58016107	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	3233212	58016107	1112876	160	17272											
TRIB3	57761	genome.wustl.edu	37	20	376869	376869	+	Silent	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr20:376869G>A	ENST00000217233.3	+	4	1165	c.612G>A	c.(610-612)gaG>gaA	p.E204E	TRIB3_ENST00000422053.2_Silent_p.E231E	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AGAACCTGGAGGACTCCTGCG	0.602																																					Melanoma(101;421 2374 19538)											0			20											58	57	57					20																	376869		2203	4300	6503	324869	SO:0001819	synonymous_variant	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.612G>A	20.37:g.376869G>A			324869	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Silent	SNP	ENST00000217233.3	37	CCDS12997.1																																																																																				0.602	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		A	376869	G	A	376869	2	1	323	1	0	0	0	0	0	0	0	1	16484	991	35	2		2	TRIB3	20	376869	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09		376869	62648651	161	17273											
TMC2	117532	genome.wustl.edu	37	20	2542553	2542553	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr20:2542553G>C	ENST00000358864.1	+	4	466	c.451G>C	c.(451-453)Gag>Cag	p.E151Q		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	151	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGTCCGAGGAGGAACTGGC	0.607																																																0			20											74	69	71					20																	2542553		2203	4300	6503	2490553	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.451G>C	20.37:g.2542553G>C	ENSP00000351732:p.Glu151Gln		2490553	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999950	0.74818	.	.	ENSG00000149488	ENST00000358864	T	0.51071	0.72	4.66	4.66	0.58398	.	0.132084	0.49305	D	0.000149	T	0.60470	0.2271	M	0.64997	1.995	0.31344	N	0.68329	D;D	0.64830	0.994;0.99	D;P	0.63033	0.91;0.815	T	0.60999	-0.7151	10	0.24483	T	0.36	-23.9993	13.7971	0.63177	0.0:0.0:1.0:0.0	.	151;151	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	Q	151	ENSP00000351732:E151Q	ENSP00000351732:E151Q	E	+	1	0	TMC2	2490553	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.229000	0.78088	2.528000	0.85240	0.563000	0.77884	GAG		0.607	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			C	2542553	G	C	2542553	3	2	323	1	0	0	0	0	1	0	0	0	15985	1175	41	3	465	3	TMC2	20	2542553	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	2165684	2542553	60482967	162	17274											
STX16	8675	genome.wustl.edu	37	20	57243055	57243055	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr20:57243055G>A	ENST00000371141.4	+	4	989	c.265G>A	c.(265-267)Gtt>Att	p.V89I	STX16_ENST00000359617.4_Missense_Mutation_p.V36I|STX16_ENST00000358029.4_Missense_Mutation_p.V85I|STX16_ENST00000361830.3_Missense_Mutation_p.V89I|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.V89I|STX16_ENST00000371132.4_Missense_Mutation_p.V68I|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000361770.5_Missense_Mutation_p.V72I|STX16_ENST00000355957.5_Missense_Mutation_p.V72I	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	89					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TCAGTATGATGTTGGCCGGAT	0.478																																																0			20											122	111	115					20																	57243055		2203	4300	6503	56676461	SO:0001583	missense	8675			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.265G>A	20.37:g.57243055G>A	ENSP00000360183:p.Val89Ile		56676461	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324470	0.24080	.	.	ENSG00000124222	ENST00000458280;ENST00000355957;ENST00000361770;ENST00000312283;ENST00000412911;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253	T;T;T;T;T;T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08	5.31	2.27	0.28462	t-SNARE (1);Syntaxin, N-terminal (1);	0.210963	0.39759	U	0.001268	T	0.03095	0.0091	N	0.04320	-0.23	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12837	0.002;0.002;0.001;0.008	T	0.39563	-0.9608	10	0.06625	T	0.88	.	9.2146	0.37339	0.3172:0.0:0.6828:0.0	.	85;72;68;89	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	I	36;72;72;36;36;36;89;36;68;85;89;31	ENSP00000388348:V36I;ENSP00000348229:V72I;ENSP00000355408:V72I;ENSP00000312086:V36I;ENSP00000416852:V36I;ENSP00000352634:V36I;ENSP00000360183:V89I;ENSP00000360173:V68I;ENSP00000350723:V85I;ENSP00000354445:V89I;ENSP00000401801:V31I	ENSP00000360180:V36I	V	+	1	0	STX16	56676461	0.999000	0.42202	0.999000	0.59377	0.984000	0.73092	3.025000	0.49681	0.636000	0.30508	-0.225000	0.12378	GTT		0.478	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		A	57243055	G	A	57243055	3	1	323	1	0	0	0	0	1	0	0	0	15341	1377	48	2	279	2	STX16	20	57243055	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	54700502	57243055	5782465	163	17275											
RNF160	26046	genome.wustl.edu	37	21	30343693	30343693	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr21:30343693G>C	ENST00000361371.5	-	7	963	c.884C>G	c.(883-885)tCc>tGc	p.S295C	LTN1_ENST00000389194.2_Missense_Mutation_p.S341C|LTN1_ENST00000389195.2_Missense_Mutation_p.S341C			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	295					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCTCACTTTGGATGCTTCCTC	0.423																																																0			21											237	223	228					21																	30343693		2203	4300	6503	29265564	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.884C>G	21.37:g.30343693G>C	ENSP00000354977:p.Ser295Cys		29265564	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	18.87	3.716472	0.68844	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.67865	3.46;3.46;-0.29	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.465872	0.23088	N	0.052071	T	0.63885	0.2549	L	0.54323	1.7	0.43467	D	0.99567	P	0.50710	0.938	B	0.40101	0.319	T	0.72250	-0.4348	10	0.72032	D	0.01	.	18.1081	0.89526	0.0:0.0:1.0:0.0	.	295	O94822	LTN1_HUMAN	C	341;295;297;341	ENSP00000373846:S341C;ENSP00000354977:S295C;ENSP00000373847:S341C	ENSP00000354977:S295C	S	-	2	0	LTN1	29265564	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	4.822000	0.62686	2.579000	0.87056	0.650000	0.86243	TCC		0.423	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		C	30343693	G	C	30343693	3	2	323	1	0	0	0	0	1	0	0	0	13458	1174	41	3	4512	3	RNF160	21	30343693	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09		30343693	17786202	164	17276											
CELSR1	9620	genome.wustl.edu	37	22	46792623	46792623	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr22:46792623C>G	ENST00000262738.3	-	13	5721	c.5722G>C	c.(5722-5724)Gtg>Ctg	p.V1908L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1908	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGGCATCCACACAGTTTATT	0.592																																																0			22											52	41	45					22																	46792623		2202	4300	6502	45171287	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5722G>C	22.37:g.46792623C>G	ENSP00000262738:p.Val1908Leu		45171287	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397285	0.25205	.	.	ENSG00000075275	ENST00000262738	T	0.69175	-0.38	4.45	3.42	0.39159	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.205114	0.31134	U	0.008197	T	0.52980	0.1768	L	0.42529	1.33	0.80722	D	1	B;B	0.27765	0.188;0.012	B;B	0.25614	0.062;0.013	T	0.46345	-0.9198	10	0.30078	T	0.28	.	7.5245	0.27647	0.1637:0.7498:0.0:0.0865	.	229;1908	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	1908	ENSP00000262738:V1908L	ENSP00000262738:V1908L	V	-	1	0	CELSR1	45171287	0.871000	0.30034	0.764000	0.31436	0.405000	0.30901	1.640000	0.37186	1.014000	0.39417	0.561000	0.74099	GTG		0.592	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46792623	C	G	46792623	3	3	323	1	0	0	0	0	1	0	0	0	3221	478	17	3	3414	3	CELSR1	22	46792623	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09		46792623	4511943	165	17277											
MIOX	55586	genome.wustl.edu	37	22	50926451	50926451	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chr22:50926451G>A	ENST00000216075.6	+	4	388	c.314G>A	c.(313-315)gGc>gAc	p.G105D	MIOX_ENST00000395733.3_Missense_Mutation_p.G105D|MIOX_ENST00000395732.3_Missense_Mutation_p.G105D	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	105					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGCGGAGGGCATCCGGAAG	0.642																																																0			22											50	47	48					22																	50926451		2203	4300	6503	49273317	SO:0001583	missense	55586			AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.314G>A	22.37:g.50926451G>A	ENSP00000216075:p.Gly105Asp		49273317	Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240347	0.79912	.	.	ENSG00000100253	ENST00000395733;ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.76575	0.981;0.988;0.935	T	0.80051	-0.1544	9	0.72032	D	0.01	-57.453	14.1269	0.65228	0.0:0.0:1.0:0.0	.	105;105;105	Q9UGB7-2;A6PVH2;Q9UGB7	.;.;MIOX_HUMAN	D	105;105;105;100	.	ENSP00000216075:G105D	G	+	2	0	MIOX	49273317	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.239000	0.78182	2.165000	0.68154	0.491000	0.48974	GGC		0.642	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584		A	50926451	G	A	50926451	3	1	323	1	0	0	0	0	1	0	0	0	9590	1203	42	2	328	2	MIOX	22	50926451	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	4133828	50926451	378115	166	17278											
TCEANC	170082	genome.wustl.edu	37	X	13680753	13680753	+	Silent	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:13680753T>C	ENST00000380600.1	+	2	213	c.126T>C	c.(124-126)caT>caC	p.H42H	TCEANC_ENST00000314720.4_Silent_p.H72H|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Silent_p.H42H|TCEANC_ENST00000545566.1_Silent_p.H42H			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	42	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						CTAAGGAGCATCTCCAGGAGA	0.438																																																0			X											96	90	92					X																	13680753		1924	4121	6045	13590674	SO:0001819	synonymous_variant	170082				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.126T>C	X.37:g.13680753T>C			13590674	A6NI06|B2RDM3	Silent	SNP	ENST00000380600.1	37																																																																																					0.438	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634		C	13680753	T	C	13680753	2	2	323	1	0	0	0	0	0	0	0	1	15678	1432	50	4		4	TCEANC	23	13680753	Silent	SNP	T	TCGA-29-1691-01A-01W-0633-09		13680753	141589807	167	17279											
EBP	10682	genome.wustl.edu	37	X	48382289	48382289	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:48382289G>A	ENST00000495186.1	+	2	953	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	EBP_ENST00000276096.6_Intron	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	44					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	GGTCTTAGTCGTGACCACATG	0.557																																					Ovarian(41;550 1000 33077 33474 52335)											0			X											164	134	144					X																	48382289		2203	4300	6503	48267233	SO:0001583	missense	10682			Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"3-beta-hydroxysteroid-delta-8,delta-7-isomerase", "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)", "sterol 8-isomerase"	300205	"emopamil-binding protein (sterol isomerase)"	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.130G>A	X.37:g.48382289G>A	ENSP00000417052:p.Val44Met		48267233	Q6FGL3|Q6IBI9	Missense_Mutation	SNP	ENST00000495186.1	37	CCDS14300.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351148	0.24512	.	.	ENSG00000147155	ENST00000495186;ENST00000446158;ENST00000414061	D;D;D	0.98120	-4.73;-4.73;-4.73	5.72	2.98	0.34508	.	0.555807	0.18236	N	0.147385	D	0.96787	0.8951	M	0.78637	2.42	0.09310	N	1	D	0.56746	0.977	P	0.50270	0.636	D	0.90892	0.4762	10	0.26408	T	0.33	-0.7433	4.7991	0.13287	0.183:0.0:0.6463:0.1706	.	44	Q15125	EBP_HUMAN	M	44	ENSP00000417052:V44M;ENSP00000390031:V44M;ENSP00000405832:V44M	ENSP00000405832:V44M	V	+	1	0	EBP	48267233	0.119000	0.22226	0.000000	0.03702	0.077000	0.17291	0.977000	0.29475	0.206000	0.20587	-0.279000	0.10071	GTG		0.557	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579		A	48382289	G	A	48382289	3	1	323	1	0	0	0	0	1	0	0	0	4886	1145	40	1	132	1	EBP	23	48382289	Missense_Mutation	SNP	G	TCGA-29-1691-01A-01W-0633-09	34701536	48382289	106888271	168	17280											
SHROOM4	57477	genome.wustl.edu	37	X	50351108	50351138	+	Frame_Shift_Del	DEL	AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG	AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG	-			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG	AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:50351108_50351138delAGTCCAGTGCTGGGTTCTCAAGGCAAGGATG	ENST00000289292.7	-	6	3287_3317	c.3004_3034delCATCCTTGCCTTGAGAACCCAGCACTGGACT	c.(3004-3036)catccttgccttgagaacccagcactggacttgfs	p.HPCLENPALDL1002fs	SHROOM4_ENST00000376020.2_Frame_Shift_Del_p.HPCLENPALDL1002fs|SHROOM4_ENST00000460112.3_Frame_Shift_Del_p.HPCLENPALDL886fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1002					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TAGCTTGACAAGTCCAGTGCTGGGTTCTCAAGGCAAGGATGGAAAGGGGTT	0.455																																																0			X																																								50367878	SO:0001589	frameshift_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3004_3034delCATCCTTGCCTTGAGAACCCAGCACTGGACT	X.37:g.50351108_50351138delAGTCCAGTGCTGGGTTCTCAAGGCAAGGATG	ENSP00000289292:p.His1002fs		50367848	A7E2X9|D6RFW0|Q96LA0	Frame_Shift_Del	DEL	ENST00000289292.7	37	CCDS35277.1																																																																																				0.455	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		-	50351138	AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG	-	50351108	7	5	323	1	0	1	0	1	0	0	0	0	14299	69	3	0	1463	0	SHROOM4	23	50351108	Frame_Shift_Del	DEL	AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG	TCGA-29-1691-01A-01W-0633-09	1968819	50351108	104919452	169	17281											
HUWE1	10075	genome.wustl.edu	37	X	53622190	53622190	+	Silent	SNP	A	A	G			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:53622190A>G	ENST00000342160.3	-	29	3794	c.3337T>C	c.(3337-3339)Tta>Cta	p.L1113L	HUWE1_ENST00000218328.8_Silent_p.L1113L|HUWE1_ENST00000262854.6_Silent_p.L1113L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1113					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCCAAGATAACCCCTTAGTC	0.502																																																0			X											102	77	85					X																	53622190		2203	4300	6503	53638915	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3337T>C	X.37:g.53622190A>G			53638915	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309440	0.23821	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	T	0.57140	0.2033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57883	-0.7734	4	.	.	.	.	6.5769	0.22571	0.8232:0.0:0.1768:0.0	.	.	.	.	A	146	.	.	V	-	2	0	HUWE1	53638915	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.439000	0.59968	2.016000	0.59253	0.486000	0.48141	GTT		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		G	53622190	A	G	53622190	2	3	323	1	0	0	0	0	0	0	0	1	7461	40	2	4		4	HUWE1	23	53622190	Silent	SNP	A	TCGA-29-1691-01A-01W-0633-09	3271082	53622190	101648370	170	17282											
PHF8	23133	genome.wustl.edu	37	X	54043170	54043189	+	Splice_Site	DEL	CTGGAGTAAAGAGATAGGTT	CTGGAGTAAAGAGATAGGTT	-			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	CTGGAGTAAAGAGATAGGTT	CTGGAGTAAAGAGATAGGTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:54043170_54043189delCTGGAGTAAAGAGATAGGTT	ENST00000357988.5	-	6	921		c.e6-1		PHF8_ENST00000338154.6_Splice_Site|PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000338946.6_Splice_Site	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.?(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTGTCAGAACCTGGAGTAAAGAGATAGGTTCTGCACCAAG	0.473																																																2	Unknown(2)	kidney(2)	X																																								54059914	SO:0001630	splice_region_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.563-1AACCTATCTCTTTACTCCAG>-	X.37:g.54043170_54043189delCTGGAGTAAAGAGATAGGTT			54059895	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Splice_Site	DEL	ENST00000357988.5	37	CCDS55420.1																																																																																				0.473	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	Intron	-	54043189	CTGGAGTAAAGAGATAGGTT	-	54043170	8	5	323	1	0	1	0	1	0	0	1	0	11840	695	24	0	2858	0	PHF8	23	54043170	Splice_Site	DEL	CTGGAGTAAAGAGATAGGTT	TCGA-29-1691-01A-01W-0633-09	420980	54043170	101227390	171	17283											
NLGN3	54413	genome.wustl.edu	37	X	70387254	70387254	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:70387254T>C	ENST00000358741.3	+	7	1610	c.1307T>C	c.(1306-1308)tTt>tCt	p.F436S	NLGN3_ENST00000374051.3_Missense_Mutation_p.F416S|NLGN3_ENST00000536169.1_Missense_Mutation_p.F396S|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	436					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.F416C(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GTCTCCAATTTTGTGGACAAT	0.527																																					Esophageal Squamous(103;760 1488 16849 22250 40351)											1	Substitution - Missense(1)	large_intestine(1)	X											139	104	116					X																	70387254		2203	4300	6503	70303979	SO:0001583	missense	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1307T>C	X.37:g.70387254T>C	ENSP00000351591:p.Phe436Ser		70303979	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.115687	0.56505	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.14	5.14	0.70334	Carboxylesterase, type B (1);	0.097389	0.64402	D	0.000001	T	0.77308	0.4111	L	0.51853	1.615	0.80722	D	1	D;D;D	0.89917	0.994;0.992;1.0	D;D;D	0.87578	0.961;0.958;0.998	T	0.79766	-0.1665	10	0.87932	D	0	.	14.1479	0.65362	0.0:0.0:0.0:1.0	.	396;436;416	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	S	396;416;396;436	ENSP00000445298:F396S;ENSP00000363163:F416S;ENSP00000379196:F396S;ENSP00000351591:F436S	ENSP00000351591:F436S	F	+	2	0	NLGN3	70303979	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.868000	0.87116	1.916000	0.55485	0.352000	0.21897	TTT		0.527	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		C	70387254	T	C	70387254	3	2	323	1	0	0	0	0	1	0	0	0	10463	1841	64	4	1329	4	NLGN3	23	70387254	Missense_Mutation	SNP	T	TCGA-29-1691-01A-01W-0633-09	16344084	70387254	84883306	172	17284											
RLIM	51132	genome.wustl.edu	37	X	73815786	73815786	+	Silent	SNP	T	T	C			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:73815786T>C	ENST00000332687.6	-	2	245	c.27A>G	c.(25-27)aaA>aaG	p.K9K	RLIM_ENST00000349225.2_Silent_p.K9K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	9					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACCACTTCCTTTGTCATTGG	0.378																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0			X											62	56	58					X																	73815786		2203	4300	6503	73732511	SO:0001819	synonymous_variant	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.27A>G	X.37:g.73815786T>C			73732511	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.378	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		C	73815786	T	C	73815786	2	2	323	1	0	0	0	0	0	0	0	1	13393	1606	56	4		4	RLIM	23	73815786	Silent	SNP	T	TCGA-29-1691-01A-01W-0633-09	3428532	73815786	81454774	173	17285											
BRWD3	254065	genome.wustl.edu	37	X	79947320	79947320	+	Splice_Site	SNP	A	A	T			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:79947320A>T	ENST00000373275.4	-	30	3698		c.e30+1		BRWD3_ENST00000473691.1_Splice_Site	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATTCATCATACCCAGGGAAA	0.438																																																0			X											73	62	66					X																	79947320		2203	4300	6503	79833976	SO:0001630	splice_region_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3481+1T>A	X.37:g.79947320A>T			79833976	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Splice_Site	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.786203	0.70337	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2229	0.59899	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRWD3	79833976	1.000000	0.71417	0.986000	0.45419	0.855000	0.48748	8.761000	0.91691	1.692000	0.51112	0.425000	0.28330	.		0.438	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	Intron	T	79947320	A	T	79947320	5	4	323	1	0	0	0	0	0	0	1	0	1526	405	14	5	1973	5	BRWD3	23	79947320	Splice_Site	SNP	A	TCGA-29-1691-01A-01W-0633-09	6131534	79947320	75323240	174	17286											
HDX	139324	genome.wustl.edu	37	X	83723899	83723899	+	Silent	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:83723899G>A	ENST00000297977.5	-	3	943	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	HDX_ENST00000373177.2_Silent_p.L278L|HDX_ENST00000506585.2_Silent_p.L220L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	278						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCCTCCCAGAATTCTCTGG	0.458																																					Pancreas(53;231 1169 36156 43751 51139)											0			X											95	90	91					X																	83723899		2203	4300	6503	83610555	SO:0001819	synonymous_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.832C>T	X.37:g.83723899G>A			83610555	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	CCDS35342.1																																																																																				0.458	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		A	83723899	G	A	83723899	2	1	323	1	0	0	0	0	0	0	0	1	7026	933	33	2		2	HDX	23	83723899	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09	3776579	83723899	71546661	175	17287											
RGAG1	57529	genome.wustl.edu	37	X	109696544	109696544	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:109696544C>A	ENST00000465301.2	+	3	2945	c.2699C>A	c.(2698-2700)cCa>cAa	p.P900Q	RGAG1_ENST00000540313.1_Missense_Mutation_p.P900Q	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	900								p.P900Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTGTCCTCACCACTAGTAAGA	0.537																																																1	Substitution - Missense(1)	lung(1)	X											99	102	101					X																	109696544		2200	4294	6494	109583200	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2699C>A	X.37:g.109696544C>A	ENSP00000419786:p.Pro900Gln		109583200	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432186	0.62844	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.57907	0.37;0.37	4.19	2.42	0.29668	.	0.542706	0.13978	N	0.349696	T	0.60971	0.2310	M	0.68593	2.085	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.49254	-0.8959	9	.	.	.	-2.2552	5.5825	0.17258	0.0:0.7468:0.0:0.2532	.	900	Q8NET4	RGAG1_HUMAN	Q	900	ENSP00000419786:P900Q;ENSP00000441452:P900Q	.	P	+	2	0	RGAG1	109583200	0.002000	0.14202	0.001000	0.08648	0.648000	0.38561	1.122000	0.31295	0.530000	0.28619	0.513000	0.50165	CCA		0.537	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		A	109696544	C	A	109696544	3	1	323	1	0	0	0	0	1	0	0	0	13277	594	21	3	2701	3	RGAG1	23	109696544	Missense_Mutation	SNP	C	TCGA-29-1691-01A-01W-0633-09	25972645	109696544	45574016	176	17288											
DCAF12L2	340578	genome.wustl.edu	37	X	125299587	125299587	+	Silent	SNP	G	G	A			TCGA-29-1691-01A-01W-0633-09	TCGA-29-1691-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	65926e04-6720-4ac9-a5dd-06b0109b4d8d	a2bf02d4-c423-47a0-bd6b-7aef7bf12c88	g.chrX:125299587G>A	ENST00000360028.2	-	1	347	c.321C>T	c.(319-321)aaC>aaT	p.N107N	DCAF12L2_ENST00000538699.1_Silent_p.N107N			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	107										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGCCTGGCGTTCAGCCACT	0.647																																																0			X											70	62	65					X																	125299587		2203	4300	6503	125127268	SO:0001819	synonymous_variant	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.321C>T	X.37:g.125299587G>A			125127268	B2RN42	Silent	SNP	ENST00000360028.2	37	CCDS43991.1																																																																																				0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125299587	G	A	125299587	2	1	323	1	0	0	0	0	0	0	0	1	4265	1136	40	1		1	DCAF12L2	23	125299587	Silent	SNP	G	TCGA-29-1691-01A-01W-0633-09	15603043	125299587	29970973	177	17289											
EPHA10	284656	genome.wustl.edu	37	1	38185713	38185713	+	Silent	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:38185713C>T	ENST00000373048.4	-	14	2429	c.2430G>A	c.(2428-2430)gcG>gcA	p.A810A	EPHA10_ENST00000427468.2_Silent_p.A810A|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.A305A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	810	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCCCATAGCGCTGGGCTCC	0.632																																																0			1											33	37	36					1																	38185713		2180	4285	6465	37958300	SO:0001819	synonymous_variant	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2430G>A	1.37:g.38185713C>T			37958300	A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	CCDS41305.1																																																																																				0.632	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38185713	C	T	38185713	2	4	324	1	0	0	0	0	0	0	0	1	5166	755	27	1		1	EPHA10	1	38185713	Silent	SNP	C	TCGA-29-1693-01A-01W-0633-09		38185713	211064908	1	17290											
ZNF644	84146	genome.wustl.edu	37	1	91404899	91404899	+	Nonsense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:91404899G>C	ENST00000370440.1	-	3	2229	c.2012C>G	c.(2011-2013)tCa>tGa	p.S671*	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.S671*|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAAACTACTTGATTGTGAGGT	0.373																																																0			1											129	129	129					1																	91404899		2203	4299	6502	91177487	SO:0001587	stop_gained	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2012C>G	1.37:g.91404899G>C	ENSP00000359469:p.Ser671*		91177487	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	39	7.562403	0.98361	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	.	.	.	6.02	6.02	0.97574	.	0.147182	0.46145	D	0.000308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.3032	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	671;671;243	.	ENSP00000337008:S671X	S	-	2	0	ZNF644	91177487	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.641000	0.61375	2.850000	0.98022	0.650000	0.86243	TCA		0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		C	91404899	G	C	91404899	4	2	324	1	0	0	0	0	0	1	0	0	18060	1294	45	3	1987	3	ZNF644	1	91404899	Nonsense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	53219186	91404899	157845722	2	17291											
CNN3	1266	genome.wustl.edu	37	1	95363362	95363362	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:95363362T>C	ENST00000370206.4	-	7	1309	c.926A>G	c.(925-927)cAt>cGt	p.H309R	CNN3_ENST00000394202.4_Missense_Mutation_p.H263R|CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000545882.1_Missense_Mutation_p.H268R|CNN3_ENST00000538964.1_Missense_Mutation_p.H309R	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	309	Asp/Glu-rich (acidic).				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTACTCGCCATGATACTCATC	0.438																																																0			1											272	237	249					1																	95363362		2203	4300	6503	95135950	SO:0001583	missense	1266			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.926A>G	1.37:g.95363362T>C	ENSP00000359225:p.His309Arg		95135950	B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	37	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135755	0.21123	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882	T;T;T;T	0.30448	1.55;1.55;1.53;1.55	6.04	3.72	0.42706	.	0.216674	0.49916	D	0.000134	T	0.03434	0.0099	N	0.03608	-0.345	0.42028	D	0.991013	B;B	0.09022	0.0;0.002	B;B	0.12156	0.001;0.007	T	0.38134	-0.9675	10	0.05721	T	0.95	-9.6157	9.1131	0.36741	0.0:0.0641:0.1253:0.8106	.	263;309	F8WA86;Q15417	.;CNN3_HUMAN	R	309;309;263;268	ENSP00000359225:H309R;ENSP00000437665:H309R;ENSP00000377752:H263R;ENSP00000440081:H268R	ENSP00000359225:H309R	H	-	2	0	CNN3	95135950	0.998000	0.40836	0.952000	0.39060	0.753000	0.42808	2.177000	0.42509	0.517000	0.28361	0.460000	0.39030	CAT		0.438	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		C	95363362	T	C	95363362	3	2	324	1	0	0	0	0	1	0	0	0	3611	1464	51	4	67	4	CNN3	1	95363362	Missense_Mutation	SNP	T	TCGA-29-1693-01A-01W-0633-09	3958463	95363362	153887259	3	17292											
STXBP3	6814	genome.wustl.edu	37	1	109301203	109301203	+	Silent	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:109301203C>T	ENST00000370008.3	+	5	380	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	110	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATATTTACTTCACTGACTGTA	0.289																																																0			1											43	50	48					1																	109301203		2199	4274	6473	109102726	SO:0001819	synonymous_variant	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.330C>T	1.37:g.109301203C>T			109102726	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Silent	SNP	ENST00000370008.3	37	CCDS790.1																																																																																				0.289	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		T	109301203	C	T	109301203	2	4	324	1	0	0	0	0	0	0	0	1	15356	825	29	2		2	STXBP3	1	109301203	Silent	SNP	C	TCGA-29-1693-01A-01W-0633-09	13937841	109301203	139949418	4	17293											
SPTA1	6708	genome.wustl.edu	37	1	158614178	158614178	+	Silent	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:158614178C>T	ENST00000368147.4	-	30	4383	c.4203G>A	c.(4201-4203)caG>caA	p.Q1401Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1401					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q1401Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACAGTTCCCCTGGAACATCT	0.458																																																1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	1											90	87	88					1																	158614178		1957	4151	6108	156880802	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4203G>A	1.37:g.158614178C>T			156880802	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158614178	C	T	158614178	2	4	324	1	0	0	0	0	0	0	0	1	15118	680	24	2		2	SPTA1	1	158614178	Silent	SNP	C	TCGA-29-1693-01A-01W-0633-09	49312975	158614178	90636443	5	17294											
IGSF9	57549	genome.wustl.edu	37	1	159904217	159904217	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:159904217A>G	ENST00000368094.1	-	8	1156	c.959T>C	c.(958-960)cTc>cCc	p.L320P	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.L320P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	320					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCTTACAGAGCACAGTGAG	0.647																																																0			1											50	41	44					1																	159904217		2197	4291	6488	158170841	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.959T>C	1.37:g.159904217A>G	ENSP00000357073:p.Leu320Pro		158170841		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927847	0.52759	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.31247	1.5;1.5	4.65	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.37095	N	0.002246	T	0.39145	0.1067	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.69654	0.965;0.756	T	0.21348	-1.0248	9	.	.	.	-11.563	12.0867	0.53702	1.0:0.0:0.0:0.0	.	320;320	Q9P2J2;C9JI81	TUTLA_HUMAN;.	P	320	ENSP00000355049:L320P;ENSP00000357073:L320P	.	L	-	2	0	IGSF9	158170841	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.710000	0.47169	1.947000	0.56498	0.482000	0.46254	CTC		0.647	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		G	159904217	A	G	159904217	3	3	324	1	0	0	0	0	1	0	0	0	7605	304	11	4	2636	4	IGSF9	1	159904217	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	1290039	159904217	89346404	6	17295											
HSPA6	3310	genome.wustl.edu	37	1	161494921	161494921	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:161494921A>G	ENST00000309758.4	+	1	886	c.473A>G	c.(472-474)cAg>cGg	p.Q158R	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	158					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCGCAGCGCCAGGCCACCAAG	0.662																																																0			1											29	33	32					1																	161494921		2203	4299	6502	159761545	SO:0001583	missense	3310				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.473A>G	1.37:g.161494921A>G	ENSP00000310219:p.Gln158Arg		159761545	Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.306400	0.40795	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01119	5.31	3.43	3.43	0.39272	.	0.000000	0.41097	U	0.000949	T	0.02193	0.0068	H	0.96604	3.85	0.51482	D	0.999928	B	0.23591	0.088	B	0.32149	0.141	T	0.00936	-1.1508	10	0.72032	D	0.01	-10.7283	9.8777	0.41213	1.0:0.0:0.0:0.0	.	158	P17066	HSP76_HUMAN	R	158;134	ENSP00000310219:Q158R	ENSP00000310219:Q158R	Q	+	2	0	HSPA6	159761545	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	6.152000	0.71812	1.409000	0.46915	0.478000	0.44815	CAG		0.662	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		G	161494921	A	G	161494921	3	3	324	1	0	0	0	0	1	0	0	0	7415	188	7	4	475	4	HSPA6	1	161494921	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	1590704	161494921	87755700	7	17296											
HMCN1	83872	genome.wustl.edu	37	1	186136015	186136015	+	Missense_Mutation	SNP	G	G	A	rs147769095	byFrequency	TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:186136015G>A	ENST00000271588.4	+	100	15744	c.15515G>A	c.(15514-15516)cGc>cAc	p.R5172H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5172H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5172	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGATCTTATCGCTGTGTGGTC	0.453													G|||	3	0.000599042	0.0015	0	5008	,	,		20248	0		0.001	False		,,,				2504	0															0			1						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	230	193	206		15515	2.8	1	1	dbSNP_134	206	7,8593	5.7+/-21.5	0,7,4293	yes	missense	HMCN1	NM_031935.2	29	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	benign	5172/5636	186136015	8,12998	2203	4300	6503	184402638	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15515G>A	1.37:g.186136015G>A	ENSP00000271588:p.Arg5172His		184402638	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	G	13.88	2.370369	0.42003	2.27E-4	8.14E-4	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.92446	-3.04;-3.04	5.69	2.84	0.33178	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.171741	0.52532	N	0.000063	D	0.83727	0.5317	L	0.31752	0.955	0.39120	D	0.961649	B	0.17268	0.021	B	0.15052	0.012	T	0.72966	-0.4131	10	0.27785	T	0.31	.	5.5803	0.17247	0.3276:0.0:0.5475:0.1249	.	5172	Q96RW7	HMCN1_HUMAN	H	5172	ENSP00000271588:R5172H;ENSP00000356462:R5172H	ENSP00000271588:R5172H	R	+	2	0	HMCN1	184402638	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.037000	0.49775	0.353000	0.24079	-0.140000	0.14226	CGC		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186136015	G	A	186136015	3	1	324	1	0	0	0	0	1	0	0	0	7220	1087	38	1	15913	1	HMCN1	1	186136015	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	24641094	186136015	63114606	8	17297											
CNIH4	29097	genome.wustl.edu	37	1	224559064	224559064	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:224559064A>T	ENST00000465271.1	+	4	406	c.331A>T	c.(331-333)Atg>Ttg	p.M111L	CNIH4_ENST00000366858.3_Intron|CNIH4_ENST00000366856.3_Missense_Mutation_p.M111L|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366857.5_Intron	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	111					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GAAGTCACACATGAAAGAAGC	0.398																																																0			1											211	188	196					1																	224559064		2203	4300	6503	222625687	SO:0001583	missense	29097				CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"cornichon homolog 4 (Drosophila)"			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.331A>T	1.37:g.224559064A>T	ENSP00000420443:p.Met111Leu		222625687	A8K1Q8|B2R553|Q9H0X8	Missense_Mutation	SNP	ENST00000465271.1	37	CCDS1543.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.456224	0.26161	.	.	ENSG00000143771	ENST00000465271;ENST00000366856	T;T	0.39056	1.1;1.1	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	N	0.20328	0.56	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.10800	-1.0614	10	0.02654	T	1	-28.6929	15.7712	0.78170	1.0:0.0:0.0:0.0	.	111	Q9P003	CNIH4_HUMAN	L	111	ENSP00000420443:M111L;ENSP00000355821:M111L	ENSP00000355821:M111L	M	+	1	0	CNIH4	222625687	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.221000	0.95188	2.174000	0.68829	0.533000	0.62120	ATG		0.398	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091754.1	NM_014184		T	224559064	A	T	224559064	3	4	324	1	0	0	0	0	1	0	0	0	3605	217	8	5	345	5	CNIH4	1	224559064	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	38423049	224559064	24691557	9	17298											
HEATR1	55127	genome.wustl.edu	37	1	236719544	236719558	+	Splice_Site	DEL	CTCCAGATGAATCAC	CTCCAGATGAATCAC	-			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	CTCCAGATGAATCAC	CTCCAGATGAATCAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr1:236719544_236719558delCTCCAGATGAATCAC	ENST00000366582.3	-	38	5470_5484	c.5356_5370delGTGATTCATCTGGAG	c.(5356-5370)gtgattcatctggagdel	p.VIHLE1786del	HEATR1_ENST00000366581.2_Splice_Site_p.VIHLE1705del	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1786					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TAGTGATTTTCTCCAGATGAATCACCTACAGGAAT	0.447																																																0			1																																								234786181	SO:0001630	splice_region_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5356-1GTGATTCATCTGGAG>-	1.37:g.236719544_236719558delCTCCAGATGAATCAC			234786167	Q5T3Q8|Q6P197|Q9NW23	In_Frame_Del	DEL	ENST00000366582.3	37	CCDS31066.1																																																																																				0.447	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	In_Frame_Del	-	236719558	CTCCAGATGAATCAC	-	236719544	8	5	324	1	0	1	0	1	0	0	1	0	7027	912	32	0	1096	0	HEATR1	1	236719544	Splice_Site	DEL	CTCCAGATGAATCAC	TCGA-29-1693-01A-01W-0633-09	12160480	236719544	12531077	10	17299											
ASXL2	55252	genome.wustl.edu	37	2	25990450	25990450	+	Splice_Site	SNP	A	A	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr2:25990450A>T	ENST00000435504.4	-	8	1069		c.e8+1		ASXL2_ENST00000336112.4_Splice_Site|ASXL2_ENST00000404843.1_Splice_Site|ASXL2_ENST00000272341.4_Splice_Site|ASXL2_ENST00000497092.1_5'Flank			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2						adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCAAACTTACTGGTATGGA	0.368																																																0			2											103	99	100					2																	25990450		1860	4100	5960	25843954	SO:0001630	splice_region_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.775+1T>A	2.37:g.25990450A>T			25843954	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Splice_Site	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	A	21.0	4.083699	0.76642	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5156	0.67816	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASXL2	25843954	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.682000	0.74528	2.107000	0.64212	0.533000	0.62120	.		0.368	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	Intron	T	25990450	A	T	25990450	5	4	324	1	0	0	0	0	0	0	1	0	1067	405	14	5	3554	5	ASXL2	2	25990450	Splice_Site	SNP	A	TCGA-29-1693-01A-01W-0633-09		25990450	217208923	11	17300											
ZNF638	27332	genome.wustl.edu	37	2	71577352	71577352	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr2:71577352T>A	ENST00000409544.1	+	2	1898	c.1268T>A	c.(1267-1269)aTa>aAa	p.I423K	ZNF638_ENST00000264447.4_Missense_Mutation_p.I423K|ZNF638_ENST00000355812.3_Missense_Mutation_p.I423K|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.I423K	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	423					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTCCAAGAATATTTCCACAT	0.383																																																0			2											93	96	95					2																	71577352		2203	4300	6503	71430860	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1268T>A	2.37:g.71577352T>A	ENSP00000386433:p.Ile423Lys		71430860	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.312177	0.60414	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.74632	-0.28;-0.86;0.28;-0.28;1.26;1.26	5.85	5.85	0.93711	Zinc finger, U1-type (1);	0.113229	0.64402	D	0.000003	T	0.77239	0.4101	L	0.27053	0.805	0.58432	D	0.999999	D;D;D;D;D	0.71674	0.998;0.998;0.993;0.99;0.998	D;P;P;P;P	0.65323	0.934;0.905;0.857;0.784;0.905	T	0.79135	-0.1928	10	0.54805	T	0.06	-20.6745	14.2025	0.65714	0.0:0.0:0.0:1.0	.	529;423;423;423;423	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	K	423;529;423;423;423;423	ENSP00000386669:I423K;ENSP00000438189:I529K;ENSP00000348066:I423K;ENSP00000367033:I423K;ENSP00000264447:I423K;ENSP00000386433:I423K	ENSP00000264447:I423K	I	+	2	0	ZNF638	71430860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.483000	0.60264	2.245000	0.73994	0.533000	0.62120	ATA		0.383	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71577352	T	A	71577352	3	1	324	1	0	0	0	0	1	0	0	0	18055	1406	49	5	1270	5	ZNF638	2	71577352	Missense_Mutation	SNP	T	TCGA-29-1693-01A-01W-0633-09	45586902	71577352	171622021	12	17301											
SPOPL	339745	genome.wustl.edu	37	2	139322292	139322300	+	In_Frame_Del	DEL	GCTGAAGGT	GCTGAAGGT	-			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	GCTGAAGGT	GCTGAAGGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr2:139322292_139322300delGCTGAAGGT	ENST00000280098.4	+	9	1231_1239	c.852_860delGCTGAAGGT	c.(850-861)cggctgaaggtc>cgc	p.LKV285del		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	285					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CACTGGAACGGCTGAAGGTCATGTGCGAA	0.392																																																0			2																																								139038770	SO:0001651	inframe_deletion	339745				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"BTB/POZ domain containing"	27934	protein-coding gene	gene with protein product	"HIB homolog 2", "roadkill homolog 2"						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.852_860delGCTGAAGGT	2.37:g.139322292_139322300delGCTGAAGGT	ENSP00000280098:p.Leu285_Val287del		139038762		In_Frame_Del	DEL	ENST00000280098.4	37	CCDS33298.1																																																																																				0.392	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			-	139322300	GCTGAAGGT	-	139322292	7	5	324	1	0	1	0	1	0	0	0	0	15087	1190	42	0	882	0	SPOPL	2	139322292	In_Frame_Del	DEL	GCTGAAGGT	TCGA-29-1693-01A-01W-0633-09	67744940	139322292	103877081	13	17302											
TMEFF2	23671	genome.wustl.edu	37	2	193049114	193049114	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr2:193049114C>A	ENST00000272771.5	-	3	1562	c.378G>T	c.(376-378)gaG>gaT	p.E126D	TMEFF2_ENST00000392314.1_Missense_Mutation_p.E126D|TMEFF2_ENST00000409056.3_Missense_Mutation_p.E126D	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	126	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CCACAAGTATCTCACTCTGCT	0.468																																					Pancreas(50;1277 1381 28487 47072)											0			2											209	170	183					2																	193049114		2203	4300	6503	192757359	SO:0001583	missense	23671			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.378G>T	2.37:g.193049114C>A	ENSP00000272771:p.Glu126Asp		192757359	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505955	0.64410	.	.	ENSG00000144339	ENST00000392314;ENST00000272771;ENST00000409056	T;T;T	0.05081	3.5;3.5;3.5	5.57	2.36	0.29203	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	N	0.25094	0.71	0.47183	D	0.999341	D;P	0.67145	0.996;0.51	P;B	0.60609	0.877;0.216	T	0.38351	-0.9665	10	0.22706	T	0.39	-17.6919	9.4021	0.38440	0.0:0.5925:0.0:0.4075	.	126;126	Q9UIK5-3;Q9UIK5	.;TEFF2_HUMAN	D	126	ENSP00000376128:E126D;ENSP00000272771:E126D;ENSP00000386871:E126D	ENSP00000272771:E126D	E	-	3	2	TMEFF2	192757359	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.790000	0.26900	0.725000	0.32318	-0.216000	0.12614	GAG		0.468	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		A	193049114	C	A	193049114	3	1	324	1	0	0	0	0	1	0	0	0	16014	912	32	3	778	3	TMEFF2	2	193049114	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	53726822	193049114	50150259	14	17303											
LRRC3B	116135	genome.wustl.edu	37	3	26751802	26751802	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr3:26751802G>C	ENST00000396641.2	+	2	1231	c.639G>C	c.(637-639)tgG>tgC	p.W213C	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Missense_Mutation_p.W213C|LRRC3B_ENST00000456208.2_Missense_Mutation_p.W213C	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	213						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGTTTGGCTGGTTCACTATGG	0.478																																																0			3											78	76	77					3																	26751802		2203	4300	6503	26726806	SO:0001583	missense	116135			AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.639G>C	3.37:g.26751802G>C	ENSP00000379880:p.Trp213Cys		26726806	Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602078	0.66445	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	T;T;T	0.61392	0.11;0.11;0.11	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78672	0.4320	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78966	-0.1995	10	0.87932	D	0	-8.7385	19.8676	0.96824	0.0:0.0:1.0:0.0	.	213	Q96PB8	LRC3B_HUMAN	C	213	ENSP00000379880:W213C;ENSP00000406370:W213C;ENSP00000394940:W213C	ENSP00000379880:W213C	W	+	3	0	LRRC3B	26726806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG		0.478	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		C	26751802	G	C	26751802	3	2	324	1	0	0	0	0	1	0	0	0	8996	1270	44	3	641	3	LRRC3B	3	26751802	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09		26751802	171270628	15	17304											
KBTBD5	131377	genome.wustl.edu	37	3	42727990	42727990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr3:42727990G>T	ENST00000287777.4	+	1	980	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	294					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CAAAGCAGAGGAGGATGAGGA	0.572																																																0			3											171	170	170					3																	42727990		2203	4300	6503	42702994	SO:0001587	stop_gained	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.880G>T	3.37:g.42727990G>T	ENSP00000287777:p.Glu294*		42702994	Q86SI1|Q96MR2	Nonsense_Mutation	SNP	ENST00000287777.4	37	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307683	0.60305	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	.	.	.	5.09	4.21	0.49690	.	0.697372	0.12398	N	0.472366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	13.0577	0.58990	0.0774:0.0:0.9226:0.0	.	.	.	.	X	294;39	.	ENSP00000287777:E294X	E	+	1	0	KBTBD5	42702994	1.000000	0.71417	0.028000	0.17463	0.098000	0.18820	4.924000	0.63418	1.161000	0.42604	0.655000	0.94253	GAG		0.572	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		T	42727990	G	T	42727990	4	4	324	1	0	0	0	0	0	1	0	0	7996	1175	41	3	882	3	KBTBD5	3	42727990	Nonsense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	15976188	42727990	155294440	16	17305											
SMARCC1	6599	genome.wustl.edu	37	3	47702862	47702862	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr3:47702862A>G	ENST00000254480.5	-	21	2361	c.2242T>C	c.(2242-2244)Tct>Cct	p.S748P	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	748					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ACTTTCCCAGAGGCTCGTGCT	0.522																																																0			3											108	91	97					3																	47702862		2203	4300	6503	47677866	SO:0001583	missense	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2242T>C	3.37:g.47702862A>G	ENSP00000254480:p.Ser748Pro		47677866	Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746054	0.69418	.	.	ENSG00000173473	ENST00000254480	T	0.41065	1.01	5.71	5.71	0.89125	.	0.166180	0.51477	D	0.000100	T	0.42810	0.1219	L	0.48642	1.525	0.37546	D	0.918506	P	0.52692	0.955	P	0.49597	0.616	T	0.45205	-0.9277	10	0.31617	T	0.26	-22.098	9.6373	0.39817	0.9227:0.0:0.0773:0.0	.	748	Q92922	SMRC1_HUMAN	P	748	ENSP00000254480:S748P	ENSP00000254480:S748P	S	-	1	0	SMARCC1	47677866	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.907000	0.56348	2.168000	0.68352	0.528000	0.53228	TCT		0.522	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			G	47702862	A	G	47702862	3	3	324	1	0	0	0	0	1	0	0	0	14778	304	11	4	1107	4	SMARCC1	3	47702862	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	4974872	47702862	150319568	17	17306											
UROC1	131669	genome.wustl.edu	37	3	126220122	126220122	+	Splice_Site	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr3:126220122C>T	ENST00000290868.2	-	10	957	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	UROC1_ENST00000383579.3_Missense_Mutation_p.E362K	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	302					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTCCTTGCTTCCCTGGAAGGA	0.587																																																0			3											179	170	173					3																	126220122		2203	4300	6503	127702812	SO:0001630	splice_region_variant	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.903-1G>A	3.37:g.126220122C>T			127702812	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	6.594	0.477972	0.12521	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.44881	0.91;0.91	4.83	4.83	0.62350	Urocanase domain (2);	0.104250	0.64402	D	0.000004	T	0.23926	0.0579	N	0.25201	0.72	0.50313	D	0.999868	B;B	0.14012	0.009;0.003	B;B	0.21360	0.034;0.013	T	0.07966	-1.0745	10	0.05525	T	0.97	-9.8843	9.1178	0.36769	0.0:0.8992:0.0:0.1008	.	362;302	E9PE13;Q96N76	.;HUTU_HUMAN	K	302;362	ENSP00000290868:E302K;ENSP00000373073:E362K	ENSP00000290868:E302K	E	-	1	0	UROC1	127702812	1.000000	0.71417	0.997000	0.53966	0.186000	0.23388	3.577000	0.53885	2.241000	0.73720	0.491000	0.48974	GAA		0.587	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	Missense_Mutation	T	126220122	C	T	126220122	5	4	324	1	0	0	0	0	0	0	1	0	17028	869	30	2	1170	2	UROC1	3	126220122	Splice_Site	SNP	C	TCGA-29-1693-01A-01W-0633-09	78517260	126220122	71802308	18	17307											
EIF2A	83939	genome.wustl.edu	37	3	150290101	150290101	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr3:150290101T>C	ENST00000460851.1	+	10	1277	c.1168T>C	c.(1168-1170)Tgg>Cgg	p.W390R	EIF2A_ENST00000487799.1_Missense_Mutation_p.W365R|EIF2A_ENST00000406576.3_Missense_Mutation_p.W329R|EIF2A_ENST00000383043.3_Missense_Mutation_p.W176R|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.W385R|SERP1_ENST00000479209.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	390					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATACAAAATTTGGCATTATAC	0.413																																																0			3											73	66	68					3																	150290101		1865	4101	5966	151772791	SO:0001583	missense	83939			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1168T>C	3.37:g.150290101T>C	ENSP00000417229:p.Trp390Arg		151772791	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	CCDS46935.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336118	0.81801	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	T;T;T;T;T	0.61859	0.59;0.55;0.07;0.56;0.09	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Translation initiation factor 2A, beta propellor-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;D;D	0.87578	0.998;0.989;0.989	D	0.84942	0.0866	10	0.87932	D	0	-8.318	16.8222	0.85835	0.0:0.0:0.0:1.0	.	329;365;390	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	R	365;390;329;385;176	ENSP00000420537:W365R;ENSP00000417229:W390R;ENSP00000385292:W329R;ENSP00000273435:W385R;ENSP00000372513:W176R	ENSP00000273435:W385R	W	+	1	0	EIF2A	151772791	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	TGG		0.413	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		C	150290101	T	C	150290101	3	2	324	1	0	0	0	0	1	0	0	0	4995	1812	63	4	1206	4	EIF2A	3	150290101	Missense_Mutation	SNP	T	TCGA-29-1693-01A-01W-0633-09	24069979	150290101	47732329	19	17308											
MECOM	2122	genome.wustl.edu	37	3	168812908	168812908	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr3:168812908T>C	ENST00000464456.1	-	11	3584	c.2384A>G	c.(2383-2385)aAt>aGt	p.N795S	MECOM_ENST00000264674.3_Missense_Mutation_p.N869S|MECOM_ENST00000468789.1_Missense_Mutation_p.N804S|MECOM_ENST00000433243.2_Missense_Mutation_p.N805S|MECOM_ENST00000460814.1_Missense_Mutation_p.N795S|MECOM_ENST00000494292.1_Missense_Mutation_p.N983S|MECOM_ENST00000472280.1_Missense_Mutation_p.N805S|MECOM_ENST00000392736.3_Missense_Mutation_p.N804S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTGTCTAAATTGGTTTGTTG	0.353																																																0			3											185	161	169					3																	168812908		2203	4300	6503	170295602	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2384A>G	3.37:g.168812908T>C	ENSP00000419770:p.Asn795Ser		170295602	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991992	0.54041	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	N	0.20328	0.56	0.80722	D	1	P;P;D;P;B	0.54964	0.951;0.668;0.969;0.837;0.45	P;B;P;B;P	0.52554	0.702;0.254;0.624;0.359;0.528	T	0.05699	-1.0869	10	0.52906	T	0.07	-10.2827	16.1138	0.81283	0.0:0.0:0.0:1.0	.	992;796;983;869;804	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	869;804;795;805;983;804;795;805	ENSP00000264674:N869S;ENSP00000376493:N804S;ENSP00000419770:N795S;ENSP00000420048:N805S;ENSP00000417899:N983S;ENSP00000419995:N804S;ENSP00000420466:N795S;ENSP00000394302:N805S	ENSP00000264674:N869S	N	-	2	0	MECOM	170295602	1.000000	0.71417	0.959000	0.39883	0.048000	0.14542	7.991000	0.88244	2.220000	0.72140	0.533000	0.62120	AAT		0.353	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		C	168812908	T	C	168812908	3	2	324	1	0	0	0	0	1	0	0	0	9422	1493	52	4	764	4	MECOM	3	168812908	Missense_Mutation	SNP	T	TCGA-29-1693-01A-01W-0633-09	18522807	168812908	29209522	20	17309											
PLD1	5337	genome.wustl.edu	37	3	171427394	171427394	+	Silent	SNP	T	T	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr3:171427394T>A	ENST00000351298.4	-	10	1143	c.1017A>T	c.(1015-1017)cgA>cgT	p.R339R	PLD1_ENST00000356327.5_Silent_p.R339R|PLD1_ENST00000342215.6_Silent_p.R339R|PLD1_ENST00000340989.4_Silent_p.R339R	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	339					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATGACCCAAATCGATGATCTT	0.388																																					NSCLC(149;2174 3517 34058)											0			3											169	158	162					3																	171427394		2203	4300	6503	172910088	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1017A>T	3.37:g.171427394T>A			172910088		Silent	SNP	ENST00000351298.4	37	CCDS3216.1																																																																																				0.388	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		A	171427394	T	A	171427394	2	1	324	1	0	0	0	0	0	0	0	1	12045	1422	50	5		5	PLD1	3	171427394	Silent	SNP	T	TCGA-29-1693-01A-01W-0633-09	2614486	171427394	26595036	21	17310											
YEATS2	55689	genome.wustl.edu	37	3	183474439	183474439	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr3:183474439A>C	ENST00000305135.5	+	12	1709	c.1514A>C	c.(1513-1515)cAg>cCg	p.Q505P		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	505					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGGACAAGCAGCCGGGGCAG	0.463																																																0			3											65	70	68					3																	183474439		1912	4136	6048	184957133	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1514A>C	3.37:g.183474439A>C	ENSP00000306983:p.Gln505Pro		184957133	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	A	6.001	0.368610	0.11352	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.29655	1.56	0.235	0.235	0.15431	.	.	.	.	.	T	0.13286	0.0322	N	0.08118	0	0.25722	N	0.98537	P	0.34662	0.462	B	0.32805	0.153	T	0.20240	-1.0281	8	0.34782	T	0.22	.	.	.	.	.	505	Q9ULM3	YETS2_HUMAN	P	505	ENSP00000306983:Q505P	ENSP00000306983:Q505P	Q	+	2	0	YEATS2	184957133	1.000000	0.71417	0.995000	0.50966	0.763000	0.43281	2.637000	0.46553	0.263000	0.21812	0.260000	0.18958	CAG		0.463	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		C	183474439	A	C	183474439	3	2	324	1	0	0	0	0	1	0	0	0	17472	188	7	5	1556	5	YEATS2	3	183474439	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	12047045	183474439	14547991	22	17311											
ABCC5	10057	genome.wustl.edu	37	3	183669341	183669341	+	Silent	SNP	G	G	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr3:183669341G>A	ENST00000334444.6	-	20	3072	c.2832C>T	c.(2830-2832)tcC>tcT	p.S944S	ABCC5_ENST00000265586.6_Silent_p.S944S	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	944	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCAGCCGGGAGGAAGCTCGCA	0.577																																																0			3											60	66	64					3																	183669341		2061	4216	6277	185152035	SO:0001819	synonymous_variant	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2832C>T	3.37:g.183669341G>A			185152035	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	CCDS43176.1																																																																																				0.577	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		A	183669341	G	A	183669341	2	1	324	1	0	0	0	0	0	0	0	1	56	987	35	2		2	ABCC5	3	183669341	Silent	SNP	G	TCGA-29-1693-01A-01W-0633-09	194902	183669341	14353089	23	17312											
KIAA1211	57482	genome.wustl.edu	37	4	57181696	57181696	+	Silent	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr4:57181696G>C	ENST00000504228.1	+	6	2133	c.2028G>C	c.(2026-2028)ctG>ctC	p.L676L	KIAA1211_ENST00000264229.6_Silent_p.L676L|KIAA1211_ENST00000541073.1_Silent_p.L669L			Q6ZU35	K1211_HUMAN	KIAA1211	676										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCAGAATCCTGAAGAACGCAG	0.667																																																0			4											51	58	56					4																	57181696		2013	4179	6192	56876453	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2028G>C	4.37:g.57181696G>C			56876453	Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	CCDS43230.1																																																																																				0.667	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		C	57181696	G	C	57181696	2	2	324	1	0	0	0	0	0	0	0	1	8215	1277	45	3		3	KIAA1211	4	57181696	Silent	SNP	G	TCGA-29-1693-01A-01W-0633-09		57181696	133972580	24	17313											
PPEF2	5470	genome.wustl.edu	37	4	76804191	76804191	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr4:76804191A>G	ENST00000286719.7	-	10	1177	c.821T>C	c.(820-822)gTt>gCt	p.V274A		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	274	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAACAGAAAACATCTTGCAG	0.378																																					NSCLC(105;1359 1603 15961 44567 47947)											0			4											100	99	100					4																	76804191		2203	4300	6503	77023215	SO:0001583	missense	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.821T>C	4.37:g.76804191A>G	ENSP00000286719:p.Val274Ala		77023215	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238583	0.79800	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.05855	3.38	4.21	4.21	0.49690	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.371975	0.27941	N	0.017222	T	0.18130	0.0435	L	0.53617	1.68	0.48632	D	0.999689	D;D	0.71674	0.998;0.996	D;D	0.71414	0.919;0.973	T	0.00349	-1.1798	10	0.87932	D	0	-5.8817	11.3122	0.49370	1.0:0.0:0.0:0.0	.	274;274	O14830-2;O14830	.;PPE2_HUMAN	A	274	ENSP00000286719:V274A	ENSP00000286719:V274A	V	-	2	0	PPEF2	77023215	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.445000	0.90326	1.771000	0.52183	0.533000	0.62120	GTT		0.378	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		G	76804191	A	G	76804191	3	3	324	1	0	0	0	0	1	0	0	0	12308	43	2	4	1472	4	PPEF2	4	76804191	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	19622495	76804191	114350085	25	17314											
EDNRA	1909	genome.wustl.edu	37	4	148406955	148406955	+	Missense_Mutation	SNP	G	G	A	rs188759418	byFrequency	TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr4:148406955G>A	ENST00000324300.5	+	2	637	c.122G>A	c.(121-123)cGt>cAt	p.R41H	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000358556.4_Missense_Mutation_p.R41H|EDNRA_ENST00000339690.5_Missense_Mutation_p.R41H|EDNRA_ENST00000506066.1_Missense_Mutation_p.R41H	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	41					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R41H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ACCACTTTTCGTGGCACAGAG	0.458													G|||	2	0.000399361	8e-04	0	5008	,	,		20050	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4											157	132	141					4																	148406955		2203	4300	6503	148626405	SO:0001583	missense	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.122G>A	4.37:g.148406955G>A	ENSP00000315011:p.Arg41His		148626405	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	CCDS3769.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.012	-1.652579	0.00785	.	.	ENSG00000151617	ENST00000358556;ENST00000339690;ENST00000394047;ENST00000324300;ENST00000506066	T;D;T;T	0.82081	0.36;-1.57;-0.84;0.36	5.96	-8.12	0.01078	.	1.356400	0.04488	N	0.379053	T	0.59569	0.2203	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.55224	-0.8174	10	0.35671	T	0.21	0.234	7.1544	0.25628	0.5417:0.1615:0.2318:0.0651	.	41;41;41	P25101-4;P25101-2;P25101	.;.;EDNRA_HUMAN	H	41	ENSP00000351359:R41H;ENSP00000341556:R41H;ENSP00000315011:R41H;ENSP00000425281:R41H	ENSP00000315011:R41H	R	+	2	0	EDNRA	148626405	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.997000	0.01470	-2.593000	0.00455	-1.945000	0.00491	CGT		0.458	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			A	148406955	G	A	148406955	3	1	324	1	0	0	0	0	1	0	0	0	4919	1145	40	1	124	1	EDNRA	4	148406955	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	71602764	148406955	42747321	26	17315											
ETFDH	2110	genome.wustl.edu	37	4	159627945	159627945	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr4:159627945C>A	ENST00000511912.1	+	12	1965	c.1633C>A	c.(1633-1635)Cct>Act	p.P545T	ETFDH_ENST00000307738.5_Missense_Mutation_p.P498T	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	545					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TGACAGTATACCTGTAAATAG	0.408																																																0			4											104	105	105					4																	159627945		2203	4300	6503	159847395	SO:0001583	missense	2110			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1633C>A	4.37:g.159627945C>A	ENSP00000426638:p.Pro545Thr		159847395	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962532	0.74016	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94330	-3.4;-3.4	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97993	0.9339	H	0.96269	3.795	0.80722	D	1	D;D;D	0.71674	0.985;0.985;0.998	D;D;D	0.76575	0.94;0.94;0.988	D	0.98842	1.0755	10	0.87932	D	0	-16.6108	19.6878	0.95987	0.0:1.0:0.0:0.0	.	498;484;545	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	T	545;498	ENSP00000426638:P545T;ENSP00000303552:P498T	ENSP00000303552:P498T	P	+	1	0	ETFDH	159847395	1.000000	0.71417	0.787000	0.31911	0.496000	0.33645	7.818000	0.86416	2.646000	0.89796	0.591000	0.81541	CCT		0.408	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			A	159627945	C	A	159627945	3	1	324	1	0	0	0	0	1	0	0	0	5271	507	18	3	1679	3	ETFDH	4	159627945	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	11220990	159627945	31526331	27	17316											
FAM134B	54463	genome.wustl.edu	37	5	16572166	16572166	+	Silent	SNP	G	G	A	rs374947524		TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr5:16572166G>A	ENST00000306320.9	-	2	452	c.366C>T	c.(364-366)gtC>gtT	p.V122V		NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	122					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CAAGTATCATGACGGAAATCA	0.328																																																0			5						G		1,3743		0,1,1871	96	91	93		366	4.1	0.1	5		93	0,8210		0,0,4105	no	coding-synonymous	FAM134B	NM_001034850.1		0,1,5976	AA,AG,GG		0.0,0.0267,0.0084		122/498	16572166	1,11953	1872	4105	5977	16625166	SO:0001819	synonymous_variant	54463			BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.366C>T	5.37:g.16572166G>A			16625166	Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Silent	SNP	ENST00000306320.9	37	CCDS43304.1																																																																																				0.328	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		A	16572166	G	A	16572166	2	1	324	1	0	0	0	0	0	0	0	1	5446	1277	45	2		2	FAM134B	5	16572166	Silent	SNP	G	TCGA-29-1693-01A-01W-0633-09		16572166	164343094	28	17317											
ADAMTS12	81792	genome.wustl.edu	37	5	33643577	33643577	+	Splice_Site	SNP	T	T	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr5:33643577T>C	ENST00000504830.1	-	10	1815		c.e10-2		ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000504582.1_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCAGACGTTCTAGAAAACAAA	0.428										HNSCC(64;0.19)																																						0			5											102	106	105					5																	33643577		2203	4300	6503	33679334	SO:0001630	splice_region_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1480-2A>G	5.37:g.33643577T>C			33679334	A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866358	0.51588	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7244	0.77743	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33679334	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	7.845000	0.86875	2.110000	0.64415	0.379000	0.24179	.		0.428	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Intron	C	33643577	T	C	33643577	5	2	324	1	0	0	0	0	0	0	1	0	257	1536	53	4	3366	4	ADAMTS12	5	33643577	Splice_Site	SNP	T	TCGA-29-1693-01A-01W-0633-09	17071411	33643577	147271683	29	17318											
MAP1B	4131	genome.wustl.edu	37	5	71493094	71493094	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr5:71493094A>T	ENST00000296755.7	+	5	4210	c.3912A>T	c.(3910-3912)gaA>gaT	p.E1304D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1304					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGACCCAAGAAGTAGTTGAAG	0.517																																					Melanoma(17;367 822 11631 31730 47712)											0			5											53	50	51					5																	71493094		2203	4300	6503	71528850	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3912A>T	5.37:g.71493094A>T	ENSP00000296755:p.Glu1304Asp		71528850	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836196	0.50951	.	.	ENSG00000131711	ENST00000296755	T	0.03580	3.88	5.86	4.71	0.59529	.	0.313605	0.27841	N	0.017640	T	0.02012	0.0063	N	0.08118	0	0.30364	N	0.783501	P;B	0.35192	0.489;0.321	B;B	0.33295	0.161;0.092	T	0.40757	-0.9546	10	0.19590	T	0.45	-16.9436	8.6203	0.33857	0.8573:0.0:0.1427:0.0	.	1178;1304	A2BDK6;P46821	.;MAP1B_HUMAN	D	1304	ENSP00000296755:E1304D	ENSP00000296755:E1304D	E	+	3	2	MAP1B	71528850	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.445000	0.35079	2.241000	0.73720	0.533000	0.62120	GAA		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71493094	A	T	71493094	3	4	324	1	0	0	0	0	1	0	0	0	9228	69	3	5	3930	5	MAP1B	5	71493094	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	37849517	71493094	109422166	30	17319											
DMXL1	1657	genome.wustl.edu	37	5	118513137	118513137	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr5:118513137G>C	ENST00000311085.8	+	27	6924	c.6844G>C	c.(6844-6846)Gat>Cat	p.D2282H	DMXL1_ENST00000539542.1_Missense_Mutation_p.D2282H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2282										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGGAAGCTTAGATGAAGCATT	0.343																																																0			5											93	91	92					5																	118513137		2202	4300	6502	118541036	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6844G>C	5.37:g.118513137G>C	ENSP00000309690:p.Asp2282His		118541036		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186688	0.78789	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.13420	2.6;2.59	5.96	5.96	0.96718	.	0.127282	0.64402	D	0.000001	T	0.37865	0.1019	M	0.71581	2.175	0.80722	D	1	D;D	0.60160	0.985;0.987	P;P	0.61940	0.896;0.789	T	0.03000	-1.1084	10	0.87932	D	0	-22.6059	20.0324	0.97544	0.0:0.0:1.0:0.0	.	2282;2282	F5H269;Q9Y485	.;DMXL1_HUMAN	H	2282	ENSP00000309690:D2282H;ENSP00000439479:D2282H	ENSP00000309690:D2282H	D	+	1	0	DMXL1	118541036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.173000	0.94815	2.832000	0.97577	0.655000	0.94253	GAT		0.343	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		C	118513137	G	C	118513137	3	2	324	1	0	0	0	0	1	0	0	0	4594	942	33	3	6950	3	DMXL1	5	118513137	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	47020043	118513137	62402123	31	17320											
TRIM7	81786	genome.wustl.edu	37	5	180627120	180627120	+	Intron	SNP	G	G	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr5:180627120G>A	ENST00000274773.7	-	3	680				CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'Flank|TRIM7_ENST00000393315.1_Intron|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000422067.2_Intron|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000361809.3_Intron|TRIM7_ENST00000393319.3_Missense_Mutation_p.H12Y|CTC-338M12.6_ENST00000511517.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		ACTTGAACATGGAGACATAAC	0.582																																					Esophageal Squamous(128;2258 2308 35507 48647)											0			5											66	66	66					5																	180627120		2203	4300	6503	180559726	SO:0001627	intron_variant	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.619-39C>T	5.37:g.180627120G>A			180559726	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355519	0.41700	.	.	ENSG00000146054	ENST00000393319	T	0.58506	0.33	4.81	-7.1	0.01547	.	.	.	.	.	T	0.29783	0.0744	.	.	.	0.09310	N	1	B	0.22683	0.073	B	0.25405	0.06	T	0.20806	-1.0264	7	.	.	.	.	2.2512	0.04043	0.1313:0.1483:0.2113:0.5091	.	12	Q9C029-4	.	Y	12	ENSP00000376994:H12Y	.	H	-	1	0	TRIM7	180559726	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-2.294000	0.01144	-0.760000	0.04677	0.462000	0.41574	CAT		0.582	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		A	180627120	G	A	180627120	1	1	324	0	1	0	0	0	0	0	0	0	16543	1348	47	2		2	TRIM7	5	180627120	Intron	SNP	G	TCGA-29-1693-01A-01W-0633-09	62113983	180627120	288140	32	17321											
HIVEP1	3096	genome.wustl.edu	37	6	12124078	12124078	+	Silent	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr6:12124078C>T	ENST00000379388.2	+	4	4382	c.4050C>T	c.(4048-4050)ggC>ggT	p.G1350G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1350					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCAGCTGGCTTGAATACTC	0.438																																																0			6											68	64	65					6																	12124078		1902	4128	6030	12232064	SO:0001819	synonymous_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4050C>T	6.37:g.12124078C>T			12232064	B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	CCDS43426.1																																																																																				0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		T	12124078	C	T	12124078	2	4	324	1	0	0	0	0	0	0	0	1	7186	784	28	2		2	HIVEP1	6	12124078	Silent	SNP	C	TCGA-29-1693-01A-01W-0633-09		12124078	158990989	33	17322											
SLC44A4	80736	genome.wustl.edu	37	6	31836946	31836946	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr6:31836946A>C	ENST00000229729.6	-	13	1239	c.1219T>G	c.(1219-1221)Tca>Gca	p.S407A	SLC44A4_ENST00000544672.1_Missense_Mutation_p.S331A|SLC44A4_ENST00000375562.4_Missense_Mutation_p.S365A	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	407					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGGTTGCATGATGTATTTATT	0.572																																																0			6											101	84	90					6																	31836946		1511	2709	4220	31944925	SO:0001583	missense	80736			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1219T>G	6.37:g.31836946A>C	ENSP00000229729:p.Ser407Ala		31944925	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	CCDS4724.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.06|17.06	3.291402|3.291402	0.59976|0.59976	.|.	.|.	ENSG00000204385|ENSG00000204385	ENST00000414427|ENST00000229729;ENST00000375562;ENST00000544672	.|T;T;T	.|0.11604	.|3.12;2.76;2.96	5.82|5.82	-2.5|-2.5	0.06384|0.06384	.|.	.|1.114660	.|0.06974	.|N	.|0.818621	T|T	0.02571|0.02571	0.0078|0.0078	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.19666	.|0.026	T|T	0.49634|0.49634	-0.8919|-0.8919	5|10	.|0.66056	.|D	.|0.02	-21.1671|-21.1671	12.4694|12.4694	0.55779|0.55779	0.2476:0.0:0.0:0.7524|0.2476:0.0:0.0:0.7524	.|.	.|407	.|Q53GD3	.|CTL4_HUMAN	Q|A	290|407;365;331	.|ENSP00000229729:S407A;ENSP00000364712:S365A;ENSP00000444109:S331A	.|ENSP00000229729:S407A	H|S	-|-	3|1	2|0	SLC44A4|SLC44A4	31944925|31944925	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.577000|0.577000	0.36160|0.36160	0.055000|0.055000	0.14229|0.14229	-0.180000|-0.180000	0.10637|0.10637	0.482000|0.482000	0.46254|0.46254	CAT|TCA		0.572	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			C	31836946	A	C	31836946	3	2	324	1	0	0	0	0	1	0	0	0	14641	333	12	5	949	5	SLC44A4	6	31836946	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	19712868	31836946	139278121	34	17323											
GUCA1B	2979	genome.wustl.edu	37	6	42156397	42156397	+	Missense_Mutation	SNP	G	G	T	rs147884871		TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr6:42156397G>T	ENST00000230361.3	-	2	375	c.280C>A	c.(280-282)Ctg>Atg	p.L94M		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	94	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			GTCCACTTCAGCTTGTGCTCC	0.542																																																0			6											143	97	113					6																	42156397		2203	4300	6503	42264375	SO:0001583	missense	2979			AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"EF-hand domain containing"	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.280C>A	6.37:g.42156397G>T	ENSP00000230361:p.Leu94Met		42264375	Q9NU15	Missense_Mutation	SNP	ENST00000230361.3	37	CCDS4865.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327759	0.81690	.	.	ENSG00000112599	ENST00000230361;ENST00000372949	T	0.78924	-1.22	4.87	4.0	0.46444	EF-hand-like domain (1);	0.070231	0.64402	D	0.000015	T	0.80757	0.4684	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83349	-0.0004	10	0.87932	D	0	.	11.4137	0.49939	0.0904:0.0:0.9096:0.0	.	94	Q9UMX6	GUC1B_HUMAN	M	94	ENSP00000230361:L94M	ENSP00000230361:L94M	L	-	1	2	GUCA1B	42264375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.796000	0.62496	1.353000	0.45828	0.655000	0.94253	CTG		0.542	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1	NM_002098		T	42156397	G	T	42156397	3	4	324	1	0	0	0	0	1	0	0	0	6889	962	34	3	334	3	GUCA1B	6	42156397	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	10319451	42156397	128958670	35	17324											
DST	667	genome.wustl.edu	37	6	56482019	56482019	+	Silent	SNP	G	G	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr6:56482019G>T	ENST00000370765.6	-	24	6353	c.6246C>A	c.(6244-6246)gtC>gtA	p.V2082V	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATCATCCCTGACTGAACATG	0.478																																																0			6											172	169	170					6																	56482019		2203	4300	6503	56589978	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6246C>A	6.37:g.56482019G>T			56589978	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.672340	0.00758	.	.	ENSG00000151914	ENST00000522360	.	.	.	5.77	-4.85	0.03142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4112	0.11434	0.2329:0.2855:0.3877:0.0939	.	.	.	.	X	170	.	.	S	-	2	0	DST	56589978	0.025000	0.19082	0.074000	0.20217	0.551000	0.35334	-0.065000	0.11617	-1.052000	0.03222	-1.761000	0.00669	TCA		0.478	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56482019	G	T	56482019	2	4	324	1	0	0	0	0	0	0	0	1	4783	1277	45	3		3	DST	6	56482019	Silent	SNP	G	TCGA-29-1693-01A-01W-0633-09	14325622	56482019	114633048	36	17325											
CNR1	1268	genome.wustl.edu	37	6	88853950	88853950	+	Silent	SNP	G	G	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr6:88853950G>A	ENST00000537554.1	-	2	4606	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	CNR1_ENST00000428600.2_Silent_p.I348I|CNR1_ENST00000549890.1_Silent_p.I348I|CNR1_ENST00000369499.2_Silent_p.I348I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Silent_p.I348I|CNR1_ENST00000369501.2_Silent_p.I348I|CNR1_ENST00000468898.1_Silent_p.I315I|CNR1_ENST00000549716.1_Silent_p.I287I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	348					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACACCACCAGGATCAGGACCA	0.517																																																0			6											156	164	161					6																	88853950		2203	4300	6503	88910669	SO:0001819	synonymous_variant	1268			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1044C>T	6.37:g.88853950G>A			88910669	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	CCDS5015.1																																																																																				0.517	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			A	88853950	G	A	88853950	2	1	324	1	0	0	0	0	0	0	0	1	3631	1164	41	2		2	CNR1	6	88853950	Silent	SNP	G	TCGA-29-1693-01A-01W-0633-09	32371931	88853950	82261117	37	17326											
UTRN	7402	genome.wustl.edu	37	6	144795801	144795801	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr6:144795801C>A	ENST00000367545.3	+	24	3242	c.3242C>A	c.(3241-3243)aCt>aAt	p.T1081N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1081					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAATAGAGACTAATCTTCGA	0.363																																																0			6											105	105	105					6																	144795801		2203	4300	6503	144837494	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3242C>A	6.37:g.144795801C>A	ENSP00000356515:p.Thr1081Asn		144837494	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	4.479	0.088703	0.08583	.	.	ENSG00000152818	ENST00000367545	T	0.32988	1.43	5.68	4.81	0.61882	.	1.341790	0.05087	N	0.484530	T	0.12518	0.0304	N	0.22421	0.69	0.49213	D	0.99976	B	0.25169	0.119	B	0.30029	0.11	T	0.06844	-1.0804	10	0.17369	T	0.5	.	14.2938	0.66298	0.0:0.9291:0.0:0.0708	.	1081	P46939	UTRO_HUMAN	N	1081	ENSP00000356515:T1081N	ENSP00000356515:T1081N	T	+	2	0	UTRN	144837494	0.123000	0.22298	0.004000	0.12327	0.050000	0.14768	2.919000	0.48836	1.396000	0.46663	0.563000	0.77884	ACT		0.363	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			A	144795801	C	A	144795801	3	1	324	1	0	0	0	0	1	0	0	0	17103	565	20	3	3336	3	UTRN	6	144795801	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	55941851	144795801	26319266	38	17327											
DMTF1	9988	genome.wustl.edu	37	7	86823197	86823197	+	Missense_Mutation	SNP	C	C	A	rs201236280		TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr7:86823197C>A	ENST00000394703.5	+	18	2370	c.1807C>A	c.(1807-1809)Cct>Act	p.P603T	TMEM243_ENST00000481425.1_5'Flank|DMTF1_ENST00000331242.7_Missense_Mutation_p.P603T|DMTF1_ENST00000432937.2_Missense_Mutation_p.P515T|DMTF1_ENST00000413276.2_Missense_Mutation_p.P533T|DMTF1_ENST00000414194.2_Missense_Mutation_p.P337T	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	603	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TTTTCCTGAGCCTCCAGACGC	0.438																																																0			7											139	124	129					7																	86823197		2203	4300	6503	86661133	SO:0001583	missense	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1807C>A	7.37:g.86823197C>A	ENSP00000378193:p.Pro603Thr		86661133	B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	CCDS5601.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.33|16.33	3.092905|3.092905	0.56075|0.56075	.|.	.|.	ENSG00000135164|ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194|ENST00000454008	T;T;T;T;T|.	0.47177|.	0.86;0.85;0.86;0.86;0.87|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.56124|0.56124	0.1964|0.1964	N|N	0.24115|0.24115	0.695|0.695	0.43308|0.43308	D|D	0.995318|0.995318	P|.	0.47762|.	0.9|.	B|.	0.43301|.	0.415|.	T|T	0.49194|0.49194	-0.8965|-0.8965	10|5	0.07644|.	T|.	0.81|.	-10.5806|-10.5806	19.0721|19.0721	0.93143|0.93143	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	603|.	Q9Y222|.	DMTF1_HUMAN|.	T|R	603;533;515;603;337|70	ENSP00000332171:P603T;ENSP00000402627:P533T;ENSP00000412532:P515T;ENSP00000378193:P603T;ENSP00000415910:P337T|.	ENSP00000332171:P603T|.	P|S	+|+	1|3	0|2	DMTF1|DMTF1	86661133|86661133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	3.495000|3.495000	0.53280|0.53280	2.742000|2.742000	0.94016|0.94016	0.655000|0.655000	0.94253|0.94253	CCT|AGC		0.438	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		A	86823197	C	A	86823197	3	1	324	1	0	0	0	0	1	0	0	0	4592	739	26	3	1861	3	DMTF1	7	86823197	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09		86823197	72315466	39	17328											
RINT1	60561	genome.wustl.edu	37	7	105177014	105177014	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr7:105177014G>C	ENST00000257700.2	+	3	322	c.91G>C	c.(91-93)Gac>Cac	p.D31H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	31					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTGTAGGTGACATAAATGT	0.323																																																0			7											170	174	173					7																	105177014		2203	4300	6503	104964250	SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.91G>C	7.37:g.105177014G>C	ENSP00000257700:p.Asp31His		104964250	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	8.820	0.937292	0.18206	.	.	ENSG00000135249	ENST00000257700	T	0.27402	1.67	5.33	2.4	0.29515	.	0.278669	0.32736	N	0.005703	T	0.21103	0.0508	L	0.38838	1.175	0.37759	D	0.926249	B	0.02656	0.0	B	0.06405	0.002	T	0.06899	-1.0801	10	0.48119	T	0.1	-3.6382	6.4269	0.21773	0.2364:0.1318:0.6318:0.0	.	31	Q6NUQ1	RINT1_HUMAN	H	31	ENSP00000257700:D31H	ENSP00000257700:D31H	D	+	1	0	RINT1	104964250	1.000000	0.71417	0.986000	0.45419	0.027000	0.11550	2.008000	0.40893	0.185000	0.20105	0.591000	0.81541	GAC		0.323	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		C	105177014	G	C	105177014	3	2	324	1	0	0	0	0	1	0	0	0	13379	1290	45	3	101	3	RINT1	7	105177014	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	18353817	105177014	53961649	40	17329											
FLNC	2318	genome.wustl.edu	37	7	128478049	128478049	+	Silent	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr7:128478049G>C	ENST00000325888.8	+	6	1239	c.978G>C	c.(976-978)gtG>gtC	p.V326V	FLNC_ENST00000346177.6_Silent_p.V326V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	326					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGCTAAGGTGGTTCCCAACA	0.562																																																0			7											126	133	131					7																	128478049		2068	4203	6271	128265285	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.978G>C	7.37:g.128478049G>C			128265285	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																				0.562	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			C	128478049	G	C	128478049	2	2	324	1	0	0	0	0	0	0	0	1	5935	1335	47	3		3	FLNC	7	128478049	Silent	SNP	G	TCGA-29-1693-01A-01W-0633-09	23301035	128478049	30660614	41	17330											
SMARCD3	6604	genome.wustl.edu	37	7	150937567	150937567	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr7:150937567C>A	ENST00000262188.8	-	9	1391	c.981G>T	c.(979-981)caG>caT	p.Q327H	SMARCD3_ENST00000477169.1_5'Flank|SMARCD3_ENST00000356800.2_Missense_Mutation_p.Q314H|SMARCD3_ENST00000392811.2_Missense_Mutation_p.Q314H|RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	327	SWIB.				cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTGAGGCGCTGGGGAATCT	0.512																																																0			7											80	84	82					7																	150937567		2203	4300	6503	150568500	SO:0001583	missense	6604			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.981G>T	7.37:g.150937567C>A	ENSP00000262188:p.Gln327His		150568500	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532406	0.64972	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.48522	0.82;0.81;0.81	5.16	4.29	0.51040	SWIB domain (1);SWIB/MDM2 domain (2);	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	M	0.82630	2.6	0.80722	D	1	D;D	0.60575	0.988;0.984	D;P	0.72338	0.977;0.903	T	0.70498	-0.4855	10	0.44086	T	0.13	-21.1533	12.4211	0.55520	0.0:0.9182:0.0:0.0818	.	314;327	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	H	327;314;314;279	ENSP00000262188:Q327H;ENSP00000376558:Q314H;ENSP00000349254:Q314H	ENSP00000262188:Q327H	Q	-	3	2	SMARCD3	150568500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.361000	0.34136	1.173000	0.42796	0.563000	0.77884	CAG		0.512	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		A	150937567	C	A	150937567	3	1	324	1	0	0	0	0	1	0	0	0	14782	796	28	3	490	3	SMARCD3	7	150937567	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	22459518	150937567	8201096	42	17331											
PTK2B	2185	genome.wustl.edu	37	8	27277469	27277469	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr8:27277469G>C	ENST00000397501.1	+	8	1070	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	PTK2B_ENST00000346049.5_Missense_Mutation_p.E88Q|PTK2B_ENST00000517339.1_Missense_Mutation_p.E88Q|PTK2B_ENST00000420218.2_Missense_Mutation_p.E88Q|PTK2B_ENST00000544172.1_Missense_Mutation_p.E88Q|PTK2B_ENST00000338238.4_Missense_Mutation_p.E88Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	88	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CCGGTTGGCTGAGTGCTATGG	0.587																																																0			8											100	84	89					8																	27277469		2203	4300	6503	27333386	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.262G>C	8.37:g.27277469G>C	ENSP00000380638:p.Glu88Gln		27333386	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786368	0.49997	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000521164;ENST00000346049;ENST00000420218;ENST00000522517;ENST00000412793;ENST00000517339	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.15	5.15	0.70609	Band 4.1 domain (1);FERM domain (1);	0.297326	0.37577	N	0.002028	T	0.54935	0.1889	N	0.12182	0.205	0.50632	D	0.999884	B;B	0.13145	0.007;0.005	B;B	0.12837	0.008;0.006	T	0.51371	-0.8714	10	0.11182	T	0.66	.	13.996	0.64402	0.0:0.0:1.0:0.0	.	88;88	Q14289-2;Q14289	.;FAK2_HUMAN	Q	88;93;88;88;88;88;88;88;88;88	ENSP00000380638:E88Q;ENSP00000342242:E88Q;ENSP00000440926:E88Q;ENSP00000332816:E88Q;ENSP00000391995:E88Q;ENSP00000427931:E88Q	ENSP00000342242:E88Q	E	+	1	0	PTK2B	27333386	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.913000	0.63341	2.677000	0.91161	0.561000	0.74099	GAG		0.587	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		C	27277469	G	C	27277469	3	2	324	1	0	0	0	0	1	0	0	0	12766	1291	45	3	268	3	PTK2B	8	27277469	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09		27277469	119086553	43	17332											
LRRC6	23639	genome.wustl.edu	37	8	133645116	133645116	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr8:133645116C>G	ENST00000519595.1	-	5	621	c.523G>C	c.(523-525)Gat>Cat	p.D175H	LRRC6_ENST00000250173.1_Missense_Mutation_p.D175H|LRRC6_ENST00000518642.1_Missense_Mutation_p.D175H|LRRC6_ENST00000520446.1_Intron			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	175					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGACAGTGATCTTTTTCCTGC	0.408																																																0			8											276	243	255					8																	133645116		2203	4300	6503	133714298	SO:0001583	missense	23639			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.523G>C	8.37:g.133645116C>G	ENSP00000429791:p.Asp175His		133714298	Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37		.	.	.	.	.	.	.	.	.	.	C	11.37	1.619215	0.28801	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.54479	0.75;0.57;0.75	5.23	3.39	0.38822	.	0.485566	0.22220	N	0.062966	T	0.42223	0.1193	L	0.38531	1.155	0.27078	N	0.963166	P	0.40032	0.699	B	0.40534	0.332	T	0.26643	-1.0097	10	0.45353	T	0.12	-6.4462	9.0253	0.36224	0.1482:0.7748:0.0:0.077	.	175	Q86X45	LRRC6_HUMAN	H	175	ENSP00000429791:D175H;ENSP00000428610:D175H;ENSP00000250173:D175H	ENSP00000250173:D175H	D	-	1	0	LRRC6	133714298	1.000000	0.71417	0.993000	0.49108	0.356000	0.29392	1.348000	0.33987	0.666000	0.31087	0.555000	0.69702	GAT		0.408	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		G	133645116	C	G	133645116	3	3	324	1	0	0	0	0	1	0	0	0	9016	913	32	3	909	3	LRRC6	8	133645116	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	106367647	133645116	12718906	44	17333											
PTPRD	5789	genome.wustl.edu	37	9	8484340	8484340	+	Silent	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr9:8484340A>G	ENST00000381196.4	-	27	3735	c.3192T>C	c.(3190-3192)gaT>gaC	p.D1064D	PTPRD_ENST00000360074.4_Silent_p.D1051D|PTPRD_ENST00000358503.5_Silent_p.D1042D|PTPRD_ENST00000355233.5_Silent_p.D653D|PTPRD_ENST00000486161.1_Silent_p.D653D|PTPRD_ENST00000397617.3_Silent_p.D643D|PTPRD_ENST00000397611.3_Silent_p.D650D|PTPRD_ENST00000540109.1_Silent_p.D1064D|PTPRD_ENST00000356435.5_Silent_p.D1064D|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000397606.3_Silent_p.D643D|PTPRD_ENST00000537002.1_Silent_p.D650D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1064	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGCTCGGCCATCCACTTCTT	0.378										TSP Lung(15;0.13)																																						0			9											79	76	77					9																	8484340		2203	4300	6503	8474340	SO:0001819	synonymous_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3192T>C	9.37:g.8484340A>G			8474340	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																				0.378	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			G	8484340	A	G	8484340	2	3	324	1	0	0	0	0	0	0	0	1	12802	214	8	4		4	PTPRD	9	8484340	Silent	SNP	A	TCGA-29-1693-01A-01W-0633-09		8484340	132729091	45	17334											
OPTN	10133	genome.wustl.edu	37	10	13151183	13151183	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr10:13151183G>C	ENST00000378748.3	+	4	423	c.61G>C	c.(61-63)Gga>Cga	p.G21R	OPTN_ENST00000378764.2_Missense_Mutation_p.G21R|OPTN_ENST00000378747.3_Missense_Mutation_p.G21R|OPTN_ENST00000378752.3_Missense_Mutation_p.G21R|OPTN_ENST00000378757.2_Missense_Mutation_p.G21R|OPTN_ENST00000263036.5_Missense_Mutation_p.G21R|OPTN_ENST00000482140.1_3'UTR	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	21					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGAAAGCACAGGAAATGGACC	0.547																																																0			10											93	93	93					10																	13151183		2203	4300	6503	13191189	SO:0001583	missense	10133			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.61G>C	10.37:g.13151183G>C	ENSP00000368022:p.Gly21Arg		13191189	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899052	0.72754	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.44	5.44	0.79542	.	0.254231	0.45126	D	0.000400	D	0.89626	0.6769	L	0.29908	0.895	0.48975	D	0.999733	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.988	D	0.90614	0.4554	10	0.66056	D	0.02	-22.1983	16.1896	0.81977	0.0:0.0:1.0:0.0	.	21;21	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	R	21	ENSP00000263036:G21R;ENSP00000368040:G21R;ENSP00000368032:G21R;ENSP00000368027:G21R;ENSP00000368022:G21R;ENSP00000368021:G21R	ENSP00000263036:G21R	G	+	1	0	OPTN	13191189	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.873000	0.69644	2.578000	0.87016	0.313000	0.20887	GGA		0.547	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		C	13151183	G	C	13151183	3	2	324	1	0	0	0	0	1	0	0	0	10889	1001	35	3	63	3	OPTN	10	13151183	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09		13151183	122383564	46	17335											
EGR2	1959	genome.wustl.edu	37	10	64575684	64575684	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr10:64575684C>A	ENST00000242480.3	-	1	431	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L	EGR2_ENST00000439032.1_Missense_Mutation_p.V36L|EGR2_ENST00000411732.1_5'UTR|EGR2_ENST00000493899.2_5'UTR	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	36					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAGATGGTCACCGACGTGGCG	0.612																																																0			10											143	132	136					10																	64575684		2203	4300	6503	64245690	SO:0001583	missense	1959			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.106G>T	10.37:g.64575684C>A	ENSP00000242480:p.Val36Leu		64245690	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206698	0.39003	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000432380	T;T	0.12255	2.7;2.7	5.1	5.1	0.69264	.	0.147587	0.44902	D	0.000419	T	0.12092	0.0294	L	0.39020	1.185	0.80722	D	1	P	0.37330	0.59	B	0.34138	0.176	T	0.14896	-1.0456	10	0.16896	T	0.51	-11.8299	17.7043	0.88304	0.0:1.0:0.0:0.0	.	36	P11161	EGR2_HUMAN	L	36;36;49	ENSP00000242480:V36L;ENSP00000402040:V36L	ENSP00000242480:V36L	V	-	1	0	EGR2	64245690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.592000	0.46171	2.548000	0.85928	0.556000	0.70494	GTG		0.612	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		A	64575684	C	A	64575684	3	1	324	1	0	0	0	0	1	0	0	0	4972	507	18	3	1332	3	EGR2	10	64575684	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	51424501	64575684	70959063	47	17336											
C10orf12	26148	genome.wustl.edu	37	10	98741357	98741357	+	Silent	SNP	T	T	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr10:98741357T>C	ENST00000286067.2	+	1	317	c.210T>C	c.(208-210)gaT>gaC	p.D70D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	70										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCGCCAGGATTTAGAGGCAA	0.433																																																0			10											83	79	80					10																	98741357		2203	4300	6503	98731347	SO:0001819	synonymous_variant	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.210T>C	10.37:g.98741357T>C			98731347	Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	CCDS7452.1																																																																																				0.433	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		C	98741357	T	C	98741357	2	2	324	1	0	0	0	0	0	0	0	1	1589	1490	52	4		4	C10orf12	10	98741357	Silent	SNP	T	TCGA-29-1693-01A-01W-0633-09	34165673	98741357	36793390	48	17337											
PKD2L1	9033	genome.wustl.edu	37	10	102057174	102057174	+	Silent	SNP	G	G	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr10:102057174G>T	ENST00000318222.3	-	5	1303	c.921C>A	c.(919-921)gtC>gtA	p.V307V	PKD2L1_ENST00000353274.3_Silent_p.V307V|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	307					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGCATTGTAGACTGAGAAGT	0.557																																																0			10											89	91	90					10																	102057174		2203	4300	6503	102047164	SO:0001819	synonymous_variant	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.921C>A	10.37:g.102057174G>T			102047164	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	CCDS7492.1																																																																																				0.557	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		T	102057174	G	T	102057174	2	4	324	1	0	0	0	0	0	0	0	1	11967	929	33	3		3	PKD2L1	10	102057174	Silent	SNP	G	TCGA-29-1693-01A-01W-0633-09	3315817	102057174	33477573	49	17338											
FAM111A	63901	genome.wustl.edu	37	11	58919404	58919404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr11:58919404delG	ENST00000528737.1	+	5	3081	c.263delG	c.(262-264)agafs	p.R88fs	FAM111A_ENST00000361723.3_Frame_Shift_Del_p.R88fs|FAM111A_ENST00000420244.1_Frame_Shift_Del_p.R88fs|FAM111A_ENST00000533703.1_Frame_Shift_Del_p.R88fs|FAM111A_ENST00000531147.1_Frame_Shift_Del_p.R88fs			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	88					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AACCACAGGAGAAACCAAGAT	0.403																																																0			11											106	106	106					11																	58919404		2201	4295	6496	58675980	SO:0001589	frameshift_variant	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.263delG	11.37:g.58919404delG	ENSP00000434435:p.Arg88fs		58675980	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Frame_Shift_Del	DEL	ENST00000528737.1	37	CCDS7973.1																																																																																				0.403	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		-	58919404	G	-	58919404	7	5	324	1	0	1	0	1	0	0	0	0	5399	942	33	0	269	0	FAM111A	11	58919404	Frame_Shift_Del	DEL	G	TCGA-29-1693-01A-01W-0633-09		58919404	76087112	50	17339											
TSGA10IP	254187	genome.wustl.edu	37	11	65714957	65714957	+	RNA	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr11:65714957G>C	ENST00000532620.1	+	0	892				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GCAAAGCCTGGGTGCTGAGGA	0.647																																																0			11											34	41	39					11																	65714957		1944	4128	6072	65471533			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714957G>C			65471533	Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.647	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		C	65714957	G	C	65714957	1	2	324	0	1	0	0	0	0	0	0	0	16618	1232	43	3		3	TSGA10IP	11	65714957	RNA	SNP	G	TCGA-29-1693-01A-01W-0633-09	6795553	65714957	69291559	51	17340											
LRRC32	2615	genome.wustl.edu	37	11	76371354	76371354	+	Frame_Shift_Del	DEL	G	G	-			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr11:76371354delG	ENST00000407242.2	-	3	1525	c.1283delC	c.(1282-1284)ccafs	p.P428fs	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Frame_Shift_Del_p.P428fs|LRRC32_ENST00000260061.5_Frame_Shift_Del_p.P428fs	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	428					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGCTCATCTGGCCCCCCACA	0.662																																																0			11											19	20	19					11																	76371354		2199	4291	6490	76049002	SO:0001589	frameshift_variant	2615			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1283delC	11.37:g.76371354delG	ENSP00000384126:p.Pro428fs		76049002	Q86V06	Frame_Shift_Del	DEL	ENST00000407242.2	37	CCDS8245.1																																																																																				0.662	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		-	76371354	G	-	76371354	7	5	324	1	0	1	0	1	0	0	0	0	8987	1348	47	0	709	0	LRRC32	11	76371354	Frame_Shift_Del	DEL	G	TCGA-29-1693-01A-01W-0633-09	10656397	76371354	58635162	52	17341											
SYTL2	54843	genome.wustl.edu	37	11	85435247	85435247	+	Intron	SNP	G	G	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr11:85435247G>A	ENST00000528231.1	-	8	1737				SYTL2_ENST00000354566.3_Silent_p.P751P|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Silent_p.P1275P|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Silent_p.P751P|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGAGAGGAATGGGTTGCCTAT	0.438																																																0			11											78	76	77					11																	85435247		2203	4299	6502	85112895	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3245C>T	11.37:g.85435247G>A			85112895	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.438	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		A	85435247	G	A	85435247	1	1	324	0	1	0	0	0	0	0	0	0	15483	1335	47	2		2	SYTL2	11	85435247	Intron	SNP	G	TCGA-29-1693-01A-01W-0633-09	9063893	85435247	49571269	53	17342											
ATM	472	genome.wustl.edu	37	11	108121543	108121543	+	Missense_Mutation	SNP	C	C	T	rs201719927	byFrequency	TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr11:108121543C>T	ENST00000452508.2	+	11	1540	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	ATM_ENST00000278616.4_Missense_Mutation_p.R451C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	451					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACATGGGGAACGTACACCATA	0.408			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			C|||	5	0.000998403	0	0.0043	5008	,	,		19170	0		0	False		,,,				2504	0.002					yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0			11											115	98	103					11																	108121543		2201	4298	6499	107626753	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1351C>T	11.37:g.108121543C>T	ENSP00000388058:p.Arg451Cys		107626753	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762562	0.69763	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02158	4.42;4.76;4.76	6.08	6.08	0.98989	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.00261	-1.1868	10	0.49607	T	0.09	.	13.5204	0.61563	0.2545:0.7455:0.0:0.0	.	451	Q13315	ATM_HUMAN	C	451	ENSP00000435747:R451C;ENSP00000278616:R451C;ENSP00000388058:R451C	ENSP00000278616:R451C	R	+	1	0	ATM	107626753	1.000000	0.71417	0.948000	0.38648	0.514000	0.34195	5.087000	0.64480	2.894000	0.99253	0.591000	0.81541	CGT		0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108121543	C	T	108121543	3	4	324	1	0	0	0	0	1	0	0	0	1109	536	19	1	1385	1	ATM	11	108121543	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	22686296	108121543	26884973	54	17343											
PTPRO	5800	genome.wustl.edu	37	12	15654720	15654720	+	Silent	SNP	G	G	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr12:15654720G>A	ENST00000281171.4	+	5	1158	c.828G>A	c.(826-828)tcG>tcA	p.S276S	PTPRO_ENST00000348962.2_Silent_p.S276S|PTPRO_ENST00000543886.1_Silent_p.S276S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	276	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAATTCCCTCGGGCAACATTT	0.428																																																0			12											65	63	64					12																	15654720		2203	4300	6503	15545987	SO:0001819	synonymous_variant	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.828G>A	12.37:g.15654720G>A			15545987	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	CCDS8675.1																																																																																				0.428	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			A	15654720	G	A	15654720	2	1	324	1	0	0	0	0	0	0	0	1	12812	1103	39	1		1	PTPRO	12	15654720	Silent	SNP	G	TCGA-29-1693-01A-01W-0633-09		15654720	118197175	55	17344											
COL2A1	1280	genome.wustl.edu	37	12	48379703	48379703	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr12:48379703C>G	ENST00000380518.3	-	24	1737	c.1573G>C	c.(1573-1575)Ggt>Cgt	p.G525R	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G456R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	525	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCTTGGGACCTGCCAGACCA	0.627																																																0			12											45	45	45					12																	48379703		2122	4178	6300	46665970	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1573G>C	12.37:g.48379703C>G	ENSP00000369889:p.Gly525Arg		46665970	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867145	0.91511	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99637	-6.29;-6.29	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96988	0.9720	10	0.87932	D	0	.	17.1221	0.86705	0.0:1.0:0.0:0.0	.	456;525	P02458-1;P02458	.;CO2A1_HUMAN	R	525;456;456	ENSP00000369889:G525R;ENSP00000338213:G456R	ENSP00000338213:G456R	G	-	1	0	COL2A1	46665970	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.840000	0.69402	2.572000	0.86782	0.609000	0.83330	GGT		0.627	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		G	48379703	C	G	48379703	3	3	324	1	0	0	0	0	1	0	0	0	3687	681	24	3	3014	3	COL2A1	12	48379703	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	32724983	48379703	85472192	56	17345											
GRASP	160622	genome.wustl.edu	37	12	52404692	52404692	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr12:52404692T>A	ENST00000293662.4	+	3	404	c.324T>A	c.(322-324)gaT>gaA	p.D108E	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_5'Flank|GRASP_ENST00000552049.1_5'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	108	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AGAAGGAGGATAACCAGACCT	0.542																																																0			12											179	166	171					12																	52404692		2203	4300	6503	50690959	SO:0001583	missense	160622			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.324T>A	12.37:g.52404692T>A	ENSP00000293662:p.Asp108Glu		50690959	Q6PIF8|Q7Z741	Missense_Mutation	SNP	ENST00000293662.4	37	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616093	0.46631	.	.	ENSG00000161835	ENST00000293662	T	0.25085	1.82	4.91	-3.95	0.04118	PDZ/DHR/GLGF (3);	0.344837	0.32301	N	0.006286	T	0.10165	0.0249	L	0.28504	0.86	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.27054	-1.0085	10	0.12103	T	0.63	-11.9168	0.8238	0.01116	0.2582:0.2895:0.2746:0.1777	.	108	Q7Z6J2	GRASP_HUMAN	E	108	ENSP00000293662:D108E	ENSP00000293662:D108E	D	+	3	2	GRASP	50690959	0.002000	0.14202	0.986000	0.45419	0.995000	0.86356	-1.788000	0.01763	-0.445000	0.07159	0.459000	0.35465	GAT		0.542	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			A	52404692	T	A	52404692	3	1	324	1	0	0	0	0	1	0	0	0	6755	1403	49	5	334	5	GRASP	12	52404692	Missense_Mutation	SNP	T	TCGA-29-1693-01A-01W-0633-09	4024989	52404692	81447203	57	17346											
RASAL1	8437	genome.wustl.edu	37	12	113556985	113556985	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr12:113556985C>T	ENST00000261729.5	-	8	905	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	RASAL1_ENST00000446861.3_Missense_Mutation_p.R197Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.R197Q|RASAL1_ENST00000548055.1_Missense_Mutation_p.R197Q			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	197	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAGCTCCACCCGCAGTGGGGA	0.607																																																0			12											90	78	82					12																	113556985		2203	4300	6503	112041368	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.590G>A	12.37:g.113556985C>T	ENSP00000261729:p.Arg197Gln		112041368	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049257	0.55218	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.55	5.55	0.83447	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.267836	0.35936	N	0.002891	T	0.55321	0.1913	L	0.36672	1.1	0.25146	N	0.990465	P;P;P;P;P;P;P	0.43412	0.637;0.803;0.584;0.637;0.482;0.806;0.584	B;B;B;B;B;B;B	0.40702	0.281;0.129;0.184;0.281;0.109;0.338;0.13	T	0.50508	-0.8820	10	0.13108	T	0.6	.	13.8649	0.63583	0.1534:0.8466:0.0:0.0	.	197;197;197;209;197;197;197	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Q	197	ENSP00000450244:R197Q;ENSP00000261729:R197Q;ENSP00000395920:R197Q;ENSP00000448510:R197Q	ENSP00000261729:R197Q	R	-	2	0	RASAL1	112041368	0.976000	0.34144	0.969000	0.41365	0.948000	0.59901	2.582000	0.46085	2.627000	0.88993	0.561000	0.74099	CGG		0.607	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		T	113556985	C	T	113556985	3	4	324	1	0	0	0	0	1	0	0	0	13066	652	23	1	1884	1	RASAL1	12	113556985	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	61152293	113556985	20294910	58	17347											
HSPB8	26353	genome.wustl.edu	37	12	119617169	119617169	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr12:119617169C>G	ENST00000281938.2	+	1	723	c.52C>G	c.(52-54)Cga>Gga	p.R18G	RP11-64B16.4_ENST00000535921.1_RNA|RP11-64B16.3_ENST00000538405.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	18					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCCTGCGCCGAGACCCCTT	0.617																																																0			12											87	103	97					12																	119617169		2203	4300	6503	118101552	SO:0001583	missense	26353			AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"Heat shock proteins / HSPB"	30171	protein-coding gene	gene with protein product		608014	"heat shock 27kDa protein 8"			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.52C>G	12.37:g.119617169C>G	ENSP00000281938:p.Arg18Gly		118101552	B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785377	0.49997	.	.	ENSG00000152137	ENST00000281938	D	0.87103	-2.21	4.42	1.11	0.20524	.	0.061061	0.64402	D	0.000011	T	0.81273	0.4788	L	0.50333	1.59	0.50813	D	0.99989	P	0.42757	0.789	B	0.37198	0.243	T	0.77877	-0.2424	9	.	.	.	.	13.9681	0.64221	0.4006:0.5994:0.0:0.0	.	18	Q9UJY1	HSPB8_HUMAN	G	18	ENSP00000281938:R18G	.	R	+	1	2	HSPB8	118101552	0.919000	0.31177	0.999000	0.59377	0.998000	0.95712	-0.043000	0.12043	0.446000	0.26666	0.563000	0.77884	CGA		0.617	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		G	119617169	C	G	119617169	3	3	324	1	0	0	0	0	1	0	0	0	7423	644	23	3	54	3	HSPB8	12	119617169	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	6060184	119617169	14234726	59	17348											
DNAH10	196385	genome.wustl.edu	37	12	124272445	124272445	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr12:124272445G>C	ENST00000409039.3	+	10	1358	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	445	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCAAGATAGAGGCTTCGGG	0.557																																																0			12											52	47	49					12																	124272445		2203	4300	6503	122838398	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1333G>C	12.37:g.124272445G>C	ENSP00000386770:p.Glu445Gln		122838398	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606620	0.66558	.	.	ENSG00000197653	ENST00000409039	T	0.55930	0.49	5.55	4.66	0.58398	Dynein heavy chain, domain-1 (1);	0.169822	0.35708	N	0.003032	T	0.75635	0.3876	M	0.91249	3.19	0.39819	D	0.972802	D	0.89917	1.0	D	0.87578	0.998	T	0.78550	-0.2161	10	0.26408	T	0.33	.	12.8649	0.57934	0.0758:0.0:0.9242:0.0	.	445	Q8IVF4	DYH10_HUMAN	Q	445	ENSP00000386770:E445Q	ENSP00000386770:E445Q	E	+	1	0	DNAH10	122838398	1.000000	0.71417	0.857000	0.33713	0.248000	0.25809	9.774000	0.98992	1.335000	0.45486	0.561000	0.74099	GAG		0.557	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			C	124272445	G	C	124272445	3	2	324	1	0	0	0	0	1	0	0	0	4598	943	33	3	1371	3	DNAH10	12	124272445	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	4655276	124272445	9579450	60	17349											
BRCA2	675	genome.wustl.edu	37	13	32971045	32971048	+	Frame_Shift_Del	DEL	TACT	TACT	-	rs80359769|rs80359768		TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	TACT	TACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr13:32971045_32971048delTACT	ENST00000380152.3	+	26	9745_9748	c.9512_9515delTACT	c.(9511-9516)atacttfs	p.IL3171fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.IL3171fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3171					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATATTGACATACTTTGCAATGAA	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0			13																																								31869048	SO:0001589	frameshift_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9512_9515delTACT	13.37:g.32971045_32971048delTACT	ENSP00000369497:p.Ile3171fs		31869045	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	CCDS9344.1																																																																																				0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		-	32971048	TACT	-	32971045	7	5	324	1	0	1	0	1	0	0	0	0	1499	1406	49	0	9610	0	BRCA2	13	32971045	Frame_Shift_Del	DEL	TACT	TCGA-29-1693-01A-01W-0633-09		32971045	82198833	61	17350											
WDFY2	115825	genome.wustl.edu	37	13	52330520	52330520	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr13:52330520G>A	ENST00000298125.5	+	10	1166	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	329							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGCTCCAAGCGCTCCTCCATC	0.572																																																0			13											86	82	83					13																	52330520		2203	4300	6503	51228521	SO:0001583	missense	115825			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.986G>A	13.37:g.52330520G>A	ENSP00000298125:p.Arg329His		51228521	B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215711	0.95104	.	.	ENSG00000139668	ENST00000298125	T	0.45276	0.9	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.045737	0.85682	D	0.000000	T	0.58694	0.2140	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	P	0.56788	0.806	T	0.58707	-0.7589	10	0.45353	T	0.12	-16.5538	18.1725	0.89751	0.0:0.0:1.0:0.0	.	329	Q96P53	WDFY2_HUMAN	H	329	ENSP00000298125:R329H	ENSP00000298125:R329H	R	+	2	0	WDFY2	51228521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.519000	0.84933	0.650000	0.86243	CGC		0.572	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950		A	52330520	G	A	52330520	3	1	324	1	0	0	0	0	1	0	0	0	17269	1087	38	1	1024	1	WDFY2	13	52330520	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	19359475	52330520	62839358	62	17351											
C14orf43	91748	genome.wustl.edu	37	14	74206097	74206097	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr14:74206097C>G	ENST00000286523.5	-	2	1397	c.615G>C	c.(613-615)aaG>aaC	p.K205N	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.K205N|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TTGGGGGTTTCTTGGCTGCGT	0.642																																																0			14											42	47	45					14																	74206097		2203	4300	6503	73275850	SO:0001583	missense	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.615G>C	14.37:g.74206097C>G	ENSP00000286523:p.Lys205Asn		73275850	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081598	0.55753	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.17854	2.26;2.26;2.26;2.25	5.14	4.25	0.50352	.	0.089021	0.48286	D	0.000194	T	0.13200	0.0320	N	0.24115	0.695	0.31120	N	0.708936	P;P	0.52842	0.956;0.956	B;B	0.41764	0.366;0.366	T	0.02925	-1.1093	10	0.56958	D	0.05	-26.7067	13.6089	0.62063	0.0:0.9246:0.0:0.0754	.	205;205	A0PJD3;Q6PJG2	.;CN043_HUMAN	N	205	ENSP00000377634:K205N;ENSP00000286523:K205N;ENSP00000407767:K205N;ENSP00000402380:K205N	ENSP00000286523:K205N	K	-	3	2	C14orf43	73275850	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.129000	0.64739	1.162000	0.42619	0.462000	0.41574	AAG		0.642	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		G	74206097	C	G	74206097	3	3	324	1	0	0	0	0	1	0	0	0	1774	912	32	3	2566	3	C14orf43	14	74206097	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09		74206097	33143443	63	17352											
RAGE	5891	genome.wustl.edu	37	14	102717243	102717243	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr14:102717243A>T	ENST00000361847.2	-	7	727	c.496T>A	c.(496-498)Tgg>Agg	p.W166R	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.W165R|MOK_ENST00000524214.1_Missense_Mutation_p.W136R	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										GCCCGGTACCAGCGGGTGGAG	0.567																																																0			14											84	85	85					14																	102717243		2203	4300	6503	101786996	SO:0001583	missense	5891			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.496T>A	14.37:g.102717243A>T	ENSP00000355304:p.Trp166Arg		101786996	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.436922	0.83885	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.47177	0.85;0.85;0.85	5.69	5.69	0.88448	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	0.72407	0.3456	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77651	-0.2508	10	0.87932	D	0	-13.2241	15.6057	0.76668	1.0:0.0:0.0:0.0	.	136;166	E7ERR8;Q9UQ07	.;MOK_HUMAN	R	165;166;136	ENSP00000429469:W165R;ENSP00000355304:W166R;ENSP00000428942:W136R	ENSP00000355304:W166R	W	-	1	0	RAGE	101786996	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	8.317000	0.89987	2.166000	0.68216	0.533000	0.62120	TGG		0.567	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			T	102717243	A	T	102717243	3	4	324	1	0	0	0	0	1	0	0	0	13009	188	7	5	787	5	RAGE	14	102717243	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	28511146	102717243	4632297	64	17353											
SLC12A1	6557	genome.wustl.edu	37	15	48539135	48539135	+	Silent	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr15:48539135C>T	ENST00000558405.1	+	11	1496	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	SLC12A1_ENST00000380993.3_Silent_p.P494P|SLC12A1_ENST00000396577.3_Silent_p.P494P			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	494					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGTTCGGCCCCCTCATCACTG	0.498																																																0			15											285	250	262					15																	48539135		2198	4297	6495	46326427	SO:0001819	synonymous_variant	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1482C>T	15.37:g.48539135C>T			46326427	A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	CCDS10129.2																																																																																				0.498	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			T	48539135	C	T	48539135	2	4	324	1	0	0	0	0	0	0	0	1	14385	610	22	2		2	SLC12A1	15	48539135	Silent	SNP	C	TCGA-29-1693-01A-01W-0633-09		48539135	53992257	65	17354											
TBC1D2B	23102	genome.wustl.edu	37	15	78305432	78305432	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr15:78305432C>T	ENST00000300584.3	-	9	2002	c.2003G>A	c.(2002-2004)cGt>cAt	p.R668H	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.R668H	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	668	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CACCTTGGAACGGTGCTCGTG	0.532																																																0			15											108	91	97					15																	78305432		2196	4293	6489	76092487	SO:0001583	missense	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2003G>A	15.37:g.78305432C>T	ENSP00000300584:p.Arg668His		76092487	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.935388|4.935388	0.92458|0.92458	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.34472|.	1.36;1.36|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Rab-GAP/TBC domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90601|0.90601	0.7053|0.7053	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	D|D	0.93708|0.93708	0.7021|0.7021	10|5	0.87932|.	D|.	0|.	.|.	18.6826|18.6826	0.91551|0.91551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	668;120;668|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	H|I	668|550	ENSP00000387165:R668H;ENSP00000300584:R668H|.	ENSP00000300584:R668H|.	R|V	-|-	2|1	0|0	TBC1D2B|TBC1D2B	76092487|76092487	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.685000|0.685000	0.39939|0.39939	7.631000|7.631000	0.83237|0.83237	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.532	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		T	78305432	C	T	78305432	3	4	324	1	0	0	0	0	1	0	0	0	15619	536	19	1	908	1	TBC1D2B	15	78305432	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	29766297	78305432	24225960	66	17355											
TBC1D24	57465	genome.wustl.edu	37	16	2546399	2546399	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr16:2546399A>G	ENST00000293970.5	+	2	383	c.250A>G	c.(250-252)Aag>Gag	p.K84E	TBC1D24_ENST00000434757.2_Missense_Mutation_p.K84E|TBC1D24_ENST00000567020.1_Missense_Mutation_p.K84E|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.K84E	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	84	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GATCGTGGGCAAGCACAGCAG	0.662																																																0			16											46	54	51					16																	2546399		2159	4269	6428	2486400	SO:0001583	missense	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.250A>G	16.37:g.2546399A>G	ENSP00000293970:p.Lys84Glu		2486400	A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.573200	0.45902	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.24151	1.87;1.87	5.6	3.14	0.36123	Rab-GAP/TBC domain (1);	0.094767	0.64402	D	0.000001	T	0.21145	0.0509	L	0.45581	1.43	0.58432	D	0.999994	B;B;B	0.31879	0.344;0.344;0.295	B;B;B	0.28849	0.095;0.095;0.057	T	0.03875	-1.0996	10	0.33940	T	0.23	-41.0914	11.0472	0.47865	0.7045:0.2955:0.0:0.0	.	84;84;84	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	E	84	ENSP00000293970:K84E;ENSP00000390106:K84E	ENSP00000293970:K84E	K	+	1	0	TBC1D24	2486400	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.974000	0.56852	0.908000	0.36671	0.448000	0.29417	AAG		0.662	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		G	2546399	A	G	2546399	3	3	324	1	0	0	0	0	1	0	0	0	15614	131	5	4	252	4	TBC1D24	16	2546399	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09		2546399	87808354	67	17356											
NOMO3	408050	genome.wustl.edu	37	16	16345869	16345869	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr16:16345869A>T	ENST00000399336.4	+	8	957	c.785A>T	c.(784-786)gAc>gTc	p.D262V	NOMO3_ENST00000263012.6_Missense_Mutation_p.D262V|NOMO3_ENST00000538468.1_Missense_Mutation_p.D95V	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	262						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAGCCCCAAGACGAGAGTCTG	0.502																																																0			16											1	1	1					16																	16345869		105	285	390	16253370	SO:0001583	missense	408050			AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.785A>T	16.37:g.16345869A>T	ENSP00000382274:p.Asp262Val		16253370		Missense_Mutation	SNP	ENST00000399336.4	37	CCDS42123.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839713	0.51057	.	.	ENSG00000103226	ENST00000263012;ENST00000399336;ENST00000538468	T;T;T	0.04194	3.69;3.7;3.68	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.13927	0.0337	M	0.77820	2.39	0.80722	D	1	D;P;P	0.55800	0.973;0.754;0.903	P;B;B	0.53593	0.73;0.313;0.31	T	0.04930	-1.0917	10	0.30854	T	0.27	-28.2383	12.6128	0.56560	1.0:0.0:0.0:0.0	.	95;262;262	F5H826;P69849;Q5JPE7-2	.;NOMO3_HUMAN;.	V	262;262;95	ENSP00000263012:D262V;ENSP00000382274:D262V;ENSP00000443768:D95V	ENSP00000263012:D262V	D	+	2	0	NOMO3	16253370	1.000000	0.71417	0.381000	0.26106	0.517000	0.34286	7.951000	0.87819	1.645000	0.50612	0.348000	0.21847	GAC		0.502	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409528.13	NM_001004067		T	16345869	A	T	16345869	3	4	324	1	0	0	0	0	1	0	0	0	10533	275	10	5	815	5	NOMO3	16	16345869	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	13799470	16345869	74008884	68	17357											
CLEC18B	497190	genome.wustl.edu	37	16	74451961	74451961	+	Missense_Mutation	SNP	G	G	A	rs151079980	byFrequency	TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr16:74451961G>A	ENST00000339953.5	-	3	573	c.452C>T	c.(451-453)aCg>aTg	p.T151M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	151	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.T151K(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTCACCTGCGTGTAGTGGGT	0.592																																																1	Substitution - Missense(1)	lung(1)	16											9	10	9					16																	74451961		1775	3623	5398	73009462	SO:0001583	missense	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.452C>T	16.37:g.74451961G>A	ENSP00000341051:p.Thr151Met		73009462	B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	91	0.041666666666666664	5	0.01016260162601626	17	0.04696132596685083	20	0.03496503496503497	49	0.06464379947229551	g	16.79	3.221692	0.58560	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492	T	0.16073	2.37	3.57	3.57	0.40892	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	H	0.95982	3.75	0.46113	D	0.998879	D;D	0.89917	0.999;1.0	D;D	0.66716	0.943;0.946	T	0.45920	-0.9228	10	0.66056	D	0.02	.	10.55	0.45083	0.0:0.0:1.0:0.0	.	151;151	C9JSV1;Q6UXF7	.;CL18B_HUMAN	M	151	ENSP00000341051:T151M	ENSP00000268492:T151M	T	-	2	0	CLEC18B	73009462	1.000000	0.71417	0.986000	0.45419	0.699000	0.40488	5.199000	0.65152	1.821000	0.53095	0.531000	0.56144	ACG		0.592	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		A	74451961	G	A	74451961	3	1	324	1	0	0	0	0	1	0	0	0	3503	1145	40	1	959	1	CLEC18B	16	74451961	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	58106092	74451961	15902792	69	17358											
KRTAP9-9	81870	genome.wustl.edu	37	17	39412139	39412141	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	TGC	TGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr17:39412139_39412141delTGC	ENST00000394008.1	+	1	504_506	c.502_504delTGC	c.(502-504)tgcdel	p.C169del		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	154						keratin filament (GO:0045095)		p.C168C(1)		endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCCTTCTTGCTGCTGATCAA	0.547																																																1	Substitution - coding silent(1)	endometrium(1)	17																																								36665667	SO:0001651	inframe_deletion	81870			AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.502_504delTGC	17.37:g.39412142_39412144delTGC	ENSP00000377576:p.Cys169del		36665665	B5MDD6|Q9BYQ1	In_Frame_Del	DEL	ENST00000394008.1	37	CCDS54127.1																																																																																				0.547	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		-	39412141	TGC	-	39412139	7	5	324	1	0	1	0	1	0	0	0	0	8577	1812	63	0	504	0	KRTAP9-9	17	39412139	In_Frame_Del	DEL	TGC	TCGA-29-1693-01A-01W-0633-09		39412139	41783071	70	17359											
NOL11	25926	genome.wustl.edu	37	17	65734280	65734280	+	Silent	SNP	G	G	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr17:65734280G>A	ENST00000253247.4	+	14	1687	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	SNORA38B_ENST00000363524.1_RNA|NOL11_ENST00000535137.1_Silent_p.E342E	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	524					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTAATATGGAGTCAGTTTTTG	0.338																																																0			17											55	57	56					17																	65734280		2203	4300	6503	63164742	SO:0001819	synonymous_variant	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1572G>A	17.37:g.65734280G>A			63164742	B7Z5V9|Q7L5S1|Q9UG18	Silent	SNP	ENST00000253247.4	37	CCDS11671.1																																																																																				0.338	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		A	65734280	G	A	65734280	2	1	324	1	0	0	0	0	0	0	0	1	10521	1020	36	2		2	NOL11	17	65734280	Silent	SNP	G	TCGA-29-1693-01A-01W-0633-09	26322141	65734280	15460930	71	17360											
TSEN54	283989	genome.wustl.edu	37	17	73517579	73517579	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr17:73517579G>C	ENST00000333213.6	+	7	647	c.611G>C	c.(610-612)aGc>aCc	p.S204T		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	204					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGAGGAGCAGCTCCAGCCCT	0.587																																																0			17											101	94	96					17																	73517579		2203	4300	6503	71029174	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.611G>C	17.37:g.73517579G>C	ENSP00000327487:p.Ser204Thr		71029174	Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	G	4.096	0.015919	0.07959	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.57436	0.4	4.89	1.07	0.20283	.	0.534736	0.23618	N	0.046274	T	0.28300	0.0699	L	0.34521	1.04	0.32426	N	0.548646	P	0.39665	0.682	B	0.30401	0.115	T	0.26710	-1.0095	10	0.22706	T	0.39	-0.8024	3.4517	0.07501	0.1075:0.1686:0.5517:0.1722	.	204	Q7Z6J9	SEN54_HUMAN	T	103;204	ENSP00000327487:S204T	ENSP00000327487:S204T	S	+	2	0	TSEN54	71029174	0.236000	0.23804	0.801000	0.32222	0.084000	0.17831	0.396000	0.20867	0.422000	0.26005	-0.176000	0.13171	AGC		0.587	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		C	73517579	G	C	73517579	3	2	324	1	0	0	0	0	1	0	0	0	16614	971	34	3	637	3	TSEN54	17	73517579	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	7783299	73517579	7677631	72	17361											
RHBDF2	79651	genome.wustl.edu	37	17	74468867	74468867	+	Silent	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr17:74468867C>T	ENST00000313080.4	-	18	2325	c.2052G>A	c.(2050-2052)ctG>ctA	p.L684L	RHBDF2_ENST00000389760.4_Silent_p.L655L|RHBDF2_ENST00000591885.1_Silent_p.L655L	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	684					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CCAGCTTCTCCAGGTCCCTCA	0.607																																																0			17											53	36	42					17																	74468867		2203	4300	6503	71980462	SO:0001819	synonymous_variant	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2052G>A	17.37:g.74468867C>T			71980462	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	CCDS32743.1																																																																																				0.607	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		T	74468867	C	T	74468867	2	4	324	1	0	0	0	0	0	0	0	1	13323	581	21	2		2	RHBDF2	17	74468867	Silent	SNP	C	TCGA-29-1693-01A-01W-0633-09	951288	74468867	6726343	73	17362											
PIK3C3	5289	genome.wustl.edu	37	18	39637943	39637943	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr18:39637943T>C	ENST00000262039.4	+	22	2446	c.2360T>C	c.(2359-2361)aTg>aCg	p.M787T	PIK3C3_ENST00000398870.3_Missense_Mutation_p.M724T|PIK3C3_ENST00000593098.1_Missense_Mutation_p.M272T|PIK3C3_ENST00000588156.1_Missense_Mutation_p.M11T	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	787	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GTAGAAGGAATGGGGGGCACA	0.468										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)											0			18											79	77	78					18																	39637943		2203	4300	6503	37891941	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2360T>C	18.37:g.39637943T>C	ENSP00000262039:p.Met787Thr		37891941	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986449	0.74589	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.84589	-1.87;-1.87	5.21	5.21	0.72293	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.037347	0.85682	D	0.000000	D	0.93106	0.7805	M	0.89785	3.06	0.80722	D	1	P;B	0.34892	0.474;0.409	P;P	0.55303	0.773;0.546	D	0.92935	0.6367	9	.	.	.	.	14.7575	0.69576	0.0:0.0:0.0:1.0	.	724;787	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	T	787;724	ENSP00000262039:M787T;ENSP00000381845:M724T	.	M	+	2	0	PIK3C3	37891941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.633000	0.83260	1.962000	0.57031	0.454000	0.30748	ATG		0.468	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		C	39637943	T	C	39637943	3	2	324	1	0	0	0	0	1	0	0	0	11912	1464	51	4	2446	4	PIK3C3	18	39637943	Missense_Mutation	SNP	T	TCGA-29-1693-01A-01W-0633-09		39637943	38439305	74	17363											
MYO5B	4645	genome.wustl.edu	37	18	47390737	47390737	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr18:47390737T>G	ENST00000285039.7	-	28	3916	c.3617A>C	c.(3616-3618)gAg>gCg	p.E1206A	MYO5B_ENST00000324581.6_Missense_Mutation_p.E347A|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1206					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTTCTCTGACTCCAGCTCTTG	0.582																																																0			18											113	124	120					18																	47390737		1997	4168	6165	45644735	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3617A>C	18.37:g.47390737T>G	ENSP00000285039:p.Glu1206Ala		45644735	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.707335	0.89018	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.26957	1.7;1.7	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.84683	2.71	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.81914	0.937;0.995	T	0.61613	-0.7027	10	0.54805	T	0.06	.	15.2853	0.73822	0.0:0.0:0.0:1.0	.	1206;347	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1206;347	ENSP00000285039:E1206A;ENSP00000315531:E347A	ENSP00000285039:E1206A	E	-	2	0	MYO5B	45644735	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.020000	0.88740	2.093000	0.63338	0.459000	0.35465	GAG		0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			G	47390737	T	G	47390737	3	3	324	1	0	0	0	0	1	0	0	0	10079	1551	54	5	1981	5	MYO5B	18	47390737	Missense_Mutation	SNP	T	TCGA-29-1693-01A-01W-0633-09	7752794	47390737	30686511	75	17364											
ZNF653	115950	genome.wustl.edu	37	19	11609109	11609109	+	Splice_Site	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr19:11609109A>G	ENST00000293771.5	-	2	480		c.e2+1		CTC-398G3.6_ENST00000585656.1_Splice_Site|ZNF653_ENST00000593191.1_Splice_Site	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GCCTCCACTTACTTTTCTTCC	0.617																																					Pancreas(83;980 1446 4542 6441 43352)											0			19											207	197	200					19																	11609109		2203	4300	6503	11470109	SO:0001630	splice_region_variant	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.343+1T>C	19.37:g.11609109A>G			11470109	Q96AS7	Splice_Site	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	a	19.00	3.741009	0.69304	.	.	ENSG00000161914	ENST00000293771	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9607	0.53007	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF653	11470109	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.878000	0.63093	1.870000	0.54199	0.454000	0.30748	.		0.617	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783	Intron	G	11609109	A	G	11609109	5	3	324	1	0	0	0	0	0	0	1	0	18066	405	14	4	1534	4	ZNF653	19	11609109	Splice_Site	SNP	A	TCGA-29-1693-01A-01W-0633-09		11609109	47519874	76	17365											
OR7A17	26333	genome.wustl.edu	37	19	14991670	14991670	+	Silent	SNP	C	C	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr19:14991670C>G	ENST00000327462.2	-	1	594	c.498G>C	c.(496-498)ctG>ctC	p.L166L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGCAGAAGGACAGCCACAATA	0.478																																																0			19											101	95	97					19																	14991670		2203	4300	6503	14852670	SO:0001819	synonymous_variant	26333			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.498G>C	19.37:g.14991670C>G			14852670	Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	CCDS12319.1																																																																																				0.478	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		G	14991670	C	G	14991670	2	3	324	1	0	0	0	0	0	0	0	1	11215	465	17	3		3	OR7A17	19	14991670	Silent	SNP	C	TCGA-29-1693-01A-01W-0633-09	3382561	14991670	44137313	77	17366											
UBA52	7311	genome.wustl.edu	37	19	18684529	18684529	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr19:18684529G>A	ENST00000442744.2	+	3	219	c.161G>A	c.(160-162)cGc>cAc	p.R54H	UBA52_ENST00000596273.1_Missense_Mutation_p.R54H|UBA52_ENST00000430157.2_Missense_Mutation_p.R54H|UBA52_ENST00000599551.1_Missense_Mutation_p.R54H|UBA52_ENST00000597451.1_Missense_Mutation_p.R54H|UBA52_ENST00000598780.1_Missense_Mutation_p.R54H|UBA52_ENST00000596304.1_Missense_Mutation_p.R54H|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599595.1_Missense_Mutation_p.R54H|UBA52_ENST00000595158.1_Missense_Mutation_p.R54H|UBA52_ENST00000595683.1_Missense_Mutation_p.R54H	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	54	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						GAGGATGGCCGCACTCTCTCA	0.582																																																0			19											55	53	54					19																	18684529		2203	4300	6503	18545529	SO:0001583	missense	7311				CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"L ribosomal proteins"	12458	protein-coding gene	gene with protein product	"ribosomal protein L40", "ubiquitin-52 amino acid fusion protein", "ubiquitin carboxyl extension protein 52", "60S ribosomal protein L40", "ubiquitin-CEP52"	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.161G>A	19.37:g.18684529G>A	ENSP00000388107:p.Arg54His		18545529	P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000442744.2	37	CCDS12382.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575071	0.65878	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.74421	-0.84;-0.84	4.81	4.81	0.61882	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	L	0.55103	1.725	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.69847	-0.5034	10	0.62326	D	0.03	-12.0595	15.3581	0.74443	0.0:0.0:1.0:0.0	.	54	P62987	RL40_HUMAN	H	54	ENSP00000388107:R54H;ENSP00000396910:R54H	ENSP00000396910:R54H	R	+	2	0	UBA52	18545529	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	7.831000	0.86748	2.220000	0.72140	0.462000	0.41574	CGC		0.582	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333		A	18684529	G	A	18684529	3	1	324	1	0	0	0	0	1	0	0	0	16831	1087	38	1	167	1	UBA52	19	18684529	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	3692859	18684529	40444454	78	17367											
NUP62	23636	genome.wustl.edu	37	19	50411693	50411693	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr19:50411693G>C	ENST00000596217.1	-	2	3259	c.1372C>G	c.(1372-1374)Ctg>Gtg	p.L458V	NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.L458V|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.L458V|NUP62_ENST00000352066.3_Missense_Mutation_p.L458V|NUP62_ENST00000597723.1_Missense_Mutation_p.L382V|NUP62_ENST00000422090.2_Missense_Mutation_p.L458V|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	458					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GACGTGTTCAGGTGCTCGATG	0.582																																																0			19											166	154	158					19																	50411693		2203	4300	6503	55103505	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1372C>G	19.37:g.50411693G>C	ENSP00000471191:p.Leu458Val		55103505	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340433	0.60963	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.38722	1.12;1.12;1.12	5.11	1.73	0.24493	Nucleoporin, NSP1-like, C-terminal (1);	0.000000	0.53938	U	0.000046	T	0.30978	0.0782	L	0.45051	1.395	0.51767	D	0.999932	B	0.26744	0.158	B	0.30782	0.12	T	0.04693	-1.0933	9	.	.	.	-6.6156	6.9144	0.24352	0.1633:0.1445:0.6922:0.0	.	458	P37198	NUP62_HUMAN	V	458	ENSP00000305503:L458V;ENSP00000407331:L458V;ENSP00000387991:L458V	.	L	-	1	2	NUP62	55103505	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.832000	0.39151	0.405000	0.25532	0.655000	0.94253	CTG		0.582	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		C	50411693	G	C	50411693	3	2	324	1	0	0	0	0	1	0	0	0	10768	991	35	3	200	3	NUP62	19	50411693	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	31727164	50411693	8717290	79	17368											
ZNF528	84436	genome.wustl.edu	37	19	52918473	52918473	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr19:52918473T>G	ENST00000360465.3	+	7	794	c.368T>G	c.(367-369)tTt>tGt	p.F123C	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	123					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)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CTACAGCTATTTCAAGCTGAA	0.373																																																0			19											47	48	48					19																	52918473		2203	4300	6503	57610285	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.368T>G	19.37:g.52918473T>G	ENSP00000353652:p.Phe123Cys		57610285	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527241	0.27299	.	.	ENSG00000167555	ENST00000360465	T	0.05382	3.45	1.43	0.3	0.15776	.	.	.	.	.	T	0.16854	0.0405	M	0.69823	2.125	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	T	0.09862	-1.0655	9	0.54805	T	0.06	.	4.1708	0.10329	0.0:0.0:0.3704:0.6296	.	123	Q3MIS6	ZN528_HUMAN	C	123	ENSP00000353652:F123C	ENSP00000353652:F123C	F	+	2	0	ZNF528	57610285	0.000000	0.05858	0.002000	0.10522	0.283000	0.27025	0.019000	0.13444	0.033000	0.15463	0.397000	0.26171	TTT		0.373	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		G	52918473	T	G	52918473	3	3	324	1	0	0	0	0	1	0	0	0	17969	1841	64	5	382	5	ZNF528	19	52918473	Missense_Mutation	SNP	T	TCGA-29-1693-01A-01W-0633-09	2506780	52918473	6210510	80	17369											
DEFB127	140850	genome.wustl.edu	37	20	138225	138225	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr20:138225A>G	ENST00000382388.3	+	1	115	c.40A>G	c.(40-42)Aaa>Gaa	p.K14E		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	14					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTGTTCCAGAAACCCACAGG	0.473																																																0			20											108	95	99					20																	138225		2203	4300	6503	86225	SO:0001583	missense	140850			AY358796	CCDS12991.1	20p13	2008-02-01	2002-05-09	2002-05-10	ENSG00000088782	ENSG00000088782		"Defensins, beta"	16206	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 73"	C20orf73		11854508	Standard	NM_139074		Approved	bA530N10.2, DEF-27	uc002wcy.2	Q9H1M4	OTTHUMG00000031617	ENST00000382388.3:c.40A>G	20.37:g.138225A>G	ENSP00000371825:p.Lys14Glu		86225	Q14DW7	Missense_Mutation	SNP	ENST00000382388.3	37	CCDS12991.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603430	0.28534	.	.	ENSG00000088782	ENST00000382388	T	0.14266	2.52	3.48	1.19	0.21007	.	.	.	.	.	T	0.07324	0.0185	.	.	.	0.20403	N	0.999905	B	0.14438	0.01	B	0.10450	0.005	T	0.39663	-0.9603	8	0.27082	T	0.32	-0.0115	3.4882	0.07627	0.6403:0.2353:0.1244:0.0	.	14	Q9H1M4	DB127_HUMAN	E	14	ENSP00000371825:K14E	ENSP00000371825:K14E	K	+	1	0	DEFB127	86225	0.259000	0.24043	0.713000	0.30519	0.990000	0.78478	0.473000	0.22132	0.215000	0.20761	0.533000	0.62120	AAA		0.473	DEFB127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077429.1	NM_139074		G	138225	A	G	138225	3	3	324	1	0	0	0	0	1	0	0	0	4413	247	9	4	42	4	DEFB127	20	138225	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09		138225	62887295	81	17370											
OVOL2	58495	genome.wustl.edu	37	20	18022360	18022360	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr20:18022360G>C	ENST00000278780.6	-	3	571	c.329C>G	c.(328-330)aCa>aGa	p.T110R	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	110					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCACGTGCCTGTGGTGAACTG	0.622																																																0			20											56	43	47					20																	18022360		2203	4300	6503	17970360	SO:0001583	missense	58495			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"Zinc fingers, C2H2-type"	15804	protein-coding gene	gene with protein product			"zinc finger protein 339", "ovo-like 2 (Drosophila)"	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.329C>G	20.37:g.18022360G>C	ENSP00000278780:p.Thr110Arg		17970360	Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	ENST00000278780.6	37	CCDS13132.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827960	0.71143	.	.	ENSG00000125850	ENST00000278780	T	0.08546	3.08	5.57	5.57	0.84162	.	0.058365	0.64402	D	0.000003	T	0.15522	0.0374	L	0.36672	1.1	0.58432	D	0.999998	D	0.63880	0.993	P	0.58721	0.844	T	0.04811	-1.0925	10	0.06891	T	0.86	-12.4291	19.5466	0.95300	0.0:0.0:1.0:0.0	.	110	Q9BRP0	OVOL2_HUMAN	R	110	ENSP00000278780:T110R	ENSP00000278780:T110R	T	-	2	0	OVOL2	17970360	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.869000	0.69613	2.624000	0.88883	0.655000	0.94253	ACA		0.622	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		C	18022360	G	C	18022360	3	2	324	1	0	0	0	0	1	0	0	0	11327	1377	48	3	506	3	OVOL2	20	18022360	Missense_Mutation	SNP	G	TCGA-29-1693-01A-01W-0633-09	17884135	18022360	45003160	82	17371											
DSN1	79980	genome.wustl.edu	37	20	35396374	35396374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr20:35396374delG	ENST00000426836.1	-	4	799	c.427delC	c.(427-429)cagfs	p.Q143fs	DSN1_ENST00000373750.4_Frame_Shift_Del_p.Q143fs|DSN1_ENST00000373745.3_Frame_Shift_Del_p.Q143fs|DSN1_ENST00000373734.4_Frame_Shift_Del_p.Q36fs|DSN1_ENST00000373740.3_Frame_Shift_Del_p.Q71fs|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Frame_Shift_Del_p.Q127fs	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	143					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.Q143*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				AACCTTACCTGGAAACTGGAA	0.418																																																1	Substitution - Nonsense(1)	skin(1)	20											110	106	107					20																	35396374		2203	4300	6503	34829788	SO:0001589	frameshift_variant	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.427delC	20.37:g.35396374delG	ENSP00000389810:p.Gln143fs		34829788	B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Frame_Shift_Del	DEL	ENST00000426836.1	37	CCDS13286.1																																																																																				0.418	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		-	35396374	G	-	35396374	7	5	324	1	0	1	0	1	0	0	0	0	4780	1357	47	0	675	0	DSN1	20	35396374	Frame_Shift_Del	DEL	G	TCGA-29-1693-01A-01W-0633-09	17374014	35396374	27629146	83	17372											
MC3R	4159	genome.wustl.edu	37	20	54824285	54824285	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr20:54824285T>A	ENST00000243911.2	+	1	498	c.386T>A	c.(385-387)gTg>gAg	p.V129E		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	129					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTCCCTGGTGGCCTCCATC	0.562																																																0			20											155	124	135					20																	54824285		2203	4300	6503	54257692	SO:0001583	missense	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.386T>A	20.37:g.54824285T>A	ENSP00000243911:p.Val129Glu		54257692	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.304955	0.81247	.	.	ENSG00000124089	ENST00000243911	T	0.19394	2.15	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000038	T	0.46054	0.1373	M	0.74467	2.265	0.54753	D	0.99998	D	0.76494	0.999	D	0.71184	0.972	T	0.50154	-0.8861	10	0.87932	D	0	.	14.3394	0.66614	0.0:0.0:0.0:1.0	.	166	P41968	MC3R_HUMAN	E	129	ENSP00000243911:V129E	ENSP00000243911:V129E	V	+	2	0	MC3R	54257692	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.840000	0.86819	1.855000	0.53841	0.528000	0.53228	GTG		0.562	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			A	54824285	T	A	54824285	3	1	324	1	0	0	0	0	1	0	0	0	9365	1696	59	5	388	5	MC3R	20	54824285	Missense_Mutation	SNP	T	TCGA-29-1693-01A-01W-0633-09	19427911	54824285	8201235	84	17373											
ZBTB46	140685	genome.wustl.edu	37	20	62422006	62422006	+	Silent	SNP	C	C	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr20:62422006C>A	ENST00000245663.4	-	2	255	c.105G>T	c.(103-105)gtG>gtT	p.V35V	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Silent_p.V35V|ZBTB46_ENST00000302995.2_Silent_p.V35V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	35	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCTCCACGACCACGCAGACGT	0.607																																																0			20											70	56	61					20																	62422006		2203	4300	6503	61892450	SO:0001819	synonymous_variant	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.105G>T	20.37:g.62422006C>A			61892450	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	CCDS13538.1																																																																																				0.607	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		A	62422006	C	A	62422006	2	1	324	1	0	0	0	0	0	0	0	1	17547	581	21	3		3	ZBTB46	20	62422006	Silent	SNP	C	TCGA-29-1693-01A-01W-0633-09	7597721	62422006	603514	85	17374											
ADAMTS1	9510	genome.wustl.edu	37	21	28212677	28212677	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr21:28212677C>G	ENST00000284984.3	-	5	2037	c.1583G>C	c.(1582-1584)tGg>tCg	p.W528S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	528	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W528*(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCCATCCGCCCACGGGAAGTG	0.522																																																1	Substitution - Nonsense(1)	lung(1)	21											87	75	79					21																	28212677		2203	4300	6503	27134548	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1583G>C	21.37:g.28212677C>G	ENSP00000284984:p.Trp528Ser		27134548	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559861	0.86335	.	.	ENSG00000154734	ENST00000284984	T	0.61742	0.08	5.12	5.12	0.69794	ADAM, cysteine-rich (1);	.	.	.	.	T	0.79511	0.4458	M	0.90595	3.13	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.76751	-0.2844	9	0.16420	T	0.52	.	19.1084	0.93307	0.0:1.0:0.0:0.0	.	528	Q9UHI8	ATS1_HUMAN	S	528	ENSP00000284984:W528S	ENSP00000284984:W528S	W	-	2	0	ADAMTS1	27134548	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.278000	0.78587	2.820000	0.97059	0.650000	0.86243	TGG		0.522	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			G	28212677	C	G	28212677	3	3	324	1	0	0	0	0	1	0	0	0	255	595	21	3	1340	3	ADAMTS1	21	28212677	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09		28212677	19917218	86	17375											
RSPH1	89765	genome.wustl.edu	37	21	43912881	43912881	+	Silent	SNP	T	T	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr21:43912881T>G	ENST00000291536.3	-	3	428	c.261A>C	c.(259-261)ggA>ggC	p.G87G	RSPH1_ENST00000398352.3_Silent_p.G49G	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	87					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CATATCTGGATCCATCTGGAT	0.333																																					Esophageal Squamous(23;63 706 6286 10288 12913)											0			21											139	139	139					21																	43912881		2203	4300	6503	42785950	SO:0001819	synonymous_variant	89765			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.261A>C	21.37:g.43912881T>G			42785950	A8MWV0|B2RBN9|Q3MJA1	Silent	SNP	ENST00000291536.3	37	CCDS13688.1																																																																																				0.333	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			G	43912881	T	G	43912881	2	3	324	1	0	0	0	0	0	0	0	1	13705	1422	50	5		5	RSPH1	21	43912881	Silent	SNP	T	TCGA-29-1693-01A-01W-0633-09	15700204	43912881	4217014	87	17376											
CCT8L2	150160	genome.wustl.edu	37	22	17072827	17072827	+	Missense_Mutation	SNP	A	A	T	rs34581886		TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr22:17072827A>T	ENST00000359963.3	-	1	873	c.614T>A	c.(613-615)gTg>gAg	p.V205E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	205					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGCGCGCACACCCCAACACG	0.612																																																0			22											66	65	65					22																	17072827		2203	4300	6503	15452827	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.614T>A	22.37:g.17072827A>T	ENSP00000353048:p.Val205Glu		15452827	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	13.89	2.372324	0.42003	.	.	ENSG00000198445	ENST00000359963	D	0.81996	-1.56	1.98	1.98	0.26296	.	0.000000	0.32503	U	0.006020	D	0.88858	0.6551	M	0.82323	2.585	0.09310	N	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.78448	-0.2200	10	0.87932	D	0	-22.3053	5.9203	0.19078	1.0:0.0:0.0:0.0	.	205	Q96SF2	TCPQM_HUMAN	E	205	ENSP00000353048:V205E	ENSP00000353048:V205E	V	-	2	0	CCT8L2	15452827	0.879000	0.30193	0.076000	0.20297	0.059000	0.15707	3.474000	0.53129	0.922000	0.37019	0.312000	0.20444	GTG		0.612	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17072827	A	T	17072827	3	4	324	1	0	0	0	0	1	0	0	0	2961	159	6	5	1063	5	CCT8L2	22	17072827	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09		17072827	34231739	88	17377											
XKR3	150165	genome.wustl.edu	37	22	17280702	17280702	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr22:17280702A>G	ENST00000331428.5	-	3	650	c.548T>C	c.(547-549)aTg>aCg	p.M183T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACTGATATACATCTGCAAAAT	0.378																																																0			22											182	172	175					22																	17280702		1888	4106	5994	15660702	SO:0001583	missense	150165			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.548T>C	22.37:g.17280702A>G	ENSP00000331704:p.Met183Thr		15660702	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	4.788	0.146528	0.09134	.	.	ENSG00000172967	ENST00000331428	T	0.62105	0.05	0.945	0.945	0.19543	.	0.389031	0.20776	U	0.085899	T	0.40886	0.1135	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30765	-0.9967	10	0.52906	T	0.07	.	6.1764	0.20447	1.0:0.0:0.0:0.0	.	183	Q5GH77	XKR3_HUMAN	T	183	ENSP00000331704:M183T	ENSP00000331704:M183T	M	-	2	0	XKR3	15660702	0.997000	0.39634	0.001000	0.08648	0.033000	0.12548	1.714000	0.37961	0.727000	0.32360	0.240000	0.17902	ATG		0.378	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		G	17280702	A	G	17280702	3	3	324	1	0	0	0	0	1	0	0	0	17432	217	8	4	839	4	XKR3	22	17280702	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	207875	17280702	34023864	89	17378											
GAL3ST1	9514	genome.wustl.edu	37	22	30951341	30951341	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chr22:30951341C>A	ENST00000402321.1	-	3	1188	c.871G>T	c.(871-873)Ggg>Tgg	p.G291W	GAL3ST1_ENST00000401975.1_Missense_Mutation_p.G291W|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.G291W|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.G291W|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.G291W|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.G291W|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.G291W			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	291					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TACAGCTCCCCCGAGAGCCGC	0.677																																																0			22											27	33	31					22																	30951341		2202	4295	6497	29281341	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.871G>T	22.37:g.30951341C>A	ENSP00000385735:p.Gly291Trp		29281341	Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505365	0.26949	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.55	5.55	0.83447	.	0.148894	0.64402	D	0.000017	T	0.40015	0.1100	M	0.66939	2.045	0.38003	D	0.93428	D	0.76494	0.999	D	0.72338	0.977	T	0.35450	-0.9788	10	0.72032	D	0.01	-49.9258	14.4558	0.67416	0.0:0.7437:0.2563:0.0	.	291	Q99999	G3ST1_HUMAN	W	291	ENSP00000385825:G291W;ENSP00000385735:G291W;ENSP00000384122:G291W;ENSP00000384388:G291W;ENSP00000343234:G291W;ENSP00000385207:G291W;ENSP00000402587:G291W	ENSP00000343234:G291W	G	-	1	0	GAL3ST1	29281341	0.178000	0.23122	0.126000	0.21872	0.087000	0.18053	1.824000	0.39072	2.615000	0.88500	0.561000	0.74099	GGG		0.677	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		A	30951341	C	A	30951341	3	1	324	1	0	0	0	0	1	0	0	0	6197	623	22	3	404	3	GAL3ST1	22	30951341	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	13670639	30951341	20353225	90	17379											
ZNF630	57232	genome.wustl.edu	37	X	47918466	47918466	+	Silent	SNP	T	T	C			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chrX:47918466T>C	ENST00000409324.3	-	5	1591	c.1365A>G	c.(1363-1365)ggA>ggG	p.G455G	ZNF630_ENST00000442455.3_Silent_p.G441G|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Silent_p.G331G	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	455					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)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AAGGTTTTTCTCCTGTATGAA	0.443																																																0			X											62	61	61					X																	47918466		2194	4287	6481	47803410	SO:0001819	synonymous_variant	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1365A>G	X.37:g.47918466T>C			47803410	F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	CCDS35237.2																																																																																				0.443	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		C	47918466	T	C	47918466	2	2	324	1	0	0	0	0	0	0	0	1	18054	1538	54	4		4	ZNF630	23	47918466	Silent	SNP	T	TCGA-29-1693-01A-01W-0633-09		47918466	107352094	91	17380											
NXF2	56001	genome.wustl.edu	37	X	101572404	101572404	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chrX:101572404C>T	ENST00000372758.1	+	9	1152	c.302C>T	c.(301-303)aCg>aTg	p.T101M	NXF2_ENST00000372757.1_Missense_Mutation_p.T101M|NXF2_ENST00000395088.2_Missense_Mutation_p.T101M|NXF2_ENST00000372763.1_Missense_Mutation_p.T13M|NXF2_ENST00000330252.5_Missense_Mutation_p.T101M			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	101					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|lung(2)	4						CGTATTACCACGTGGAGAAAT	0.463																																																0			X											18	18	18					X																	101572404		1848	3527	5375	101459060	SO:0001583	missense	56001			AJ277526	CCDS14497.1	Xq22.1	2011-05-25			ENSG00000185554				8072	protein-coding gene	gene with protein product	"cancer/testis antigen 39", "TAP like protein 2"	300315				11073998, 11279525	Standard	NM_022053		Approved	CT39, TAPL-2	uc004eix.4	Q9GZY0		ENST00000372758.1:c.302C>T	X.37:g.101572404C>T	ENSP00000361844:p.Thr101Met		101459060	Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	ENST00000372758.1	37	CCDS14497.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.093350	0.00364	.	.	ENSG00000185554	ENST00000395088;ENST00000330252;ENST00000372763;ENST00000372758;ENST00000372757	T;T;T;T;T	0.42900	0.96;0.96;0.97;0.96;0.96	2.26	-2.21	0.06973	.	.	.	.	.	T	0.20981	0.0505	N	0.14661	0.345	0.09310	N	1	B;B	0.21309	0.054;0.011	B;B	0.11329	0.006;0.002	T	0.16247	-1.0409	9	0.32370	T	0.25	-0.0641	6.0356	0.19706	0.0:0.5273:0.0:0.4727	.	13;101	Q5JRM6;Q9GZY0	.;NXF2_HUMAN	M	101;101;13;101;101	ENSP00000378523:T101M;ENSP00000331471:T101M;ENSP00000361849:T13M;ENSP00000361844:T101M;ENSP00000361843:T101M	ENSP00000331471:T101M	T	+	2	0	NXF2	101459060	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.006000	0.12833	-0.602000	0.05775	0.181000	0.17075	ACG		0.463	NXF2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057618.1	NM_017809		T	101572404	C	T	101572404	3	4	324	1	0	0	0	0	1	0	0	0	10783	536	19	1	312	1	NXF2	23	101572404	Missense_Mutation	SNP	C	TCGA-29-1693-01A-01W-0633-09	53653938	101572404	53698156	92	17381											
PAK3	5063	genome.wustl.edu	37	X	110366350	110366350	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1693-01A-01W-0633-09	TCGA-29-1693-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f86c7b2-2bf7-469c-92a6-eea9263daf4f	d6e9cf10-809b-49cb-9229-cf05553458d9	g.chrX:110366350A>G	ENST00000372010.1	+	5	461	c.19A>G	c.(19-21)Aat>Gat	p.N7D	PAK3_ENST00000417227.1_Missense_Mutation_p.N7D|PAK3_ENST00000519681.1_Missense_Mutation_p.N7D|PAK3_ENST00000372007.5_Missense_Mutation_p.N7D|PAK3_ENST00000262836.4_Missense_Mutation_p.N7D|PAK3_ENST00000518291.1_Missense_Mutation_p.N7D|PAK3_ENST00000425146.1_Missense_Mutation_p.N7D|PAK3_ENST00000360648.4_Missense_Mutation_p.N7D|PAK3_ENST00000446737.1_Missense_Mutation_p.N7D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	7					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CGGTCTGGATAATGAAGAGAA	0.458										TSP Lung(19;0.15)																																						0			X											108	111	110					X																	110366350		2203	4300	6503	110253006	SO:0001583	missense	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.19A>G	X.37:g.110366350A>G	ENSP00000361080:p.Asn7Asp		110253006	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	9.103	1.004639	0.19199	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.70869	-0.51;-0.51;-0.52;-0.51;-0.51;-0.5;-0.5;-0.51;-0.52	5.2	5.2	0.72013	.	0.175390	0.47455	D	0.000236	T	0.49150	0.1540	N	0.08118	0	0.26836	N	0.968483	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.39840	-0.9594	10	0.35671	T	0.21	.	10.519	0.44907	0.9202:0.0:0.0798:0.0	.	7;7;7;7	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	D	7	ENSP00000410853:N7D;ENSP00000401982:N7D;ENSP00000361080:N7D;ENSP00000429113:N7D;ENSP00000361077:N7D;ENSP00000428921:N7D;ENSP00000353864:N7D;ENSP00000389172:N7D;ENSP00000262836:N7D	ENSP00000262836:N7D	N	+	1	0	PAK3	110253006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.788000	0.75105	1.847000	0.53656	0.486000	0.48141	AAT		0.458	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		G	110366350	A	G	110366350	3	3	324	1	0	0	0	0	1	0	0	0	11402	362	13	4	21	4	PAK3	23	110366350	Missense_Mutation	SNP	A	TCGA-29-1693-01A-01W-0633-09	8793946	110366350	44904210	93	17382											
PLA2G2C	391013	genome.wustl.edu	37	1	20499308	20499308	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr1:20499308T>G	ENST00000429261.2	-	3	322	c.262A>C	c.(262-264)Atc>Ctc	p.I88L	PLA2G2C_ENST00000495760.2_Intron|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.I89L			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	88					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATTGACGATGTGGAACTGG	0.517																																																0			1											71	72	72					1																	20499308		1973	4166	6139	20371895	SO:0001583	missense	391013					1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"phospholipase A2, group IIC (possible pseudogene)"			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.262A>C	1.37:g.20499308T>G	ENSP00000389335:p.Ile88Leu		20371895	Q7M4M6	Missense_Mutation	SNP	ENST00000429261.2	37		.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397321	0.04899	.	.	ENSG00000187980	ENST00000429261;ENST00000247992	T;D	0.81821	1.78;-1.54	5.06	-5.24	0.02789	Phospholipase A2 (3);	0.951984	0.08696	N	0.907207	T	0.63295	0.2499	L	0.31065	0.9	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.48559	-0.9025	10	0.14656	T	0.56	.	8.0227	0.30419	0.0:0.4748:0.3218:0.2035	.	88	Q5R387	PA2GC_HUMAN	L	88;89	ENSP00000389335:I88L;ENSP00000247992:I89L	ENSP00000247992:I89L	I	-	1	0	PLA2G2C	20371895	0.000000	0.05858	0.002000	0.10522	0.207000	0.24258	-0.950000	0.03889	-0.796000	0.04456	-0.250000	0.11733	ATC		0.517	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000007689.3	NM_001105572		G	20499308	T	G	20499308	3	3	325	1	0	0	0	0	1	0	0	0	11996	1464	51	5	195	5	PLA2G2C	1	20499308	Missense_Mutation	SNP	T	TCGA-29-1694-01A-01W-0633-09		20499308	228751313	1	17383											
VAV3	10451	genome.wustl.edu	37	1	108160229	108160229	+	Missense_Mutation	SNP	A	A	T	rs576499843		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr1:108160229A>T	ENST00000370056.4	-	21	2214	c.1940T>A	c.(1939-1941)gTt>gAt	p.V647D	VAV3_ENST00000415432.2_Missense_Mutation_p.V87D|VAV3_ENST00000527011.1_Missense_Mutation_p.V647D|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Missense_Mutation_p.V51D	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	647	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAAAAATCCAACCTCTCCAGA	0.353																																																0			1											78	81	80					1																	108160229		2203	4300	6503	107961752	SO:0001583	missense	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1940T>A	1.37:g.108160229A>T	ENSP00000359073:p.Val647Asp		107961752	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.65|18.65	3.670272|3.670272	0.67814|0.67814	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000529809|ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	.|T;T;T;T	.|0.09723	.|2.95;2.95;2.95;2.95	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Src homology-3 domain (3);Variant SH3 (1);	.|0.318671	.|0.33631	.|N	.|0.004712	T|T	0.15305|0.15305	0.0369|0.0369	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|P;P;B;P	.|0.45531	.|0.744;0.86;0.043;0.584	.|P;P;B;B	.|0.53313	.|0.588;0.723;0.311;0.305	T|T	0.01232|0.01232	-1.1411|-1.1411	5|10	.|0.31617	.|T	.|0.26	.|.	16.0663|16.0663	0.80878|0.80878	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|647;51;647;87	.|E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.|.;.;VAV3_HUMAN;.	M|D	175|647;647;51;87	.|ENSP00000359073:V647D;ENSP00000432540:V647D;ENSP00000446404:V51D;ENSP00000394897:V87D	.|ENSP00000359073:V647D	L|V	-|-	1|2	2|0	VAV3|VAV3	107961752|107961752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.333000|7.333000	0.79214|0.79214	2.196000|2.196000	0.70406|0.70406	0.533000|0.533000	0.62120|0.62120	TTG|GTT		0.353	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		T	108160229	A	T	108160229	3	4	325	1	0	0	0	0	1	0	0	0	17133	43	2	5	631	5	VAV3	1	108160229	Missense_Mutation	SNP	A	TCGA-29-1694-01A-01W-0633-09	87660921	108160229	141090392	2	17384											
LCE2A	353139	genome.wustl.edu	37	1	152671470	152671470	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr1:152671470G>T	ENST00000368779.1	+	2	144	c.93G>T	c.(91-93)caG>caT	p.Q31H		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	31	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGACCTCAGTGCCCAGCCC	0.657																																																0			1											72	87	82					1																	152671470		2203	4300	6503	150938094	SO:0001583	missense	353139				CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"Late cornified envelopes"	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.93G>T	1.37:g.152671470G>T	ENSP00000357768:p.Gln31His		150938094	A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	37	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884833	0.17540	.	.	ENSG00000187173	ENST00000368779	T	0.04015	3.73	4.87	3.96	0.45880	.	.	.	.	.	T	0.02156	0.0067	L	0.34521	1.04	0.22745	N	0.998785	D	0.54207	0.965	P	0.44990	0.466	T	0.43163	-0.9408	9	0.87932	D	0	.	9.1216	0.36791	0.1033:0.0:0.8967:0.0	.	31	Q5TA79	LCE2A_HUMAN	H	31	ENSP00000357768:Q31H	ENSP00000357768:Q31H	Q	+	3	2	LCE2A	150938094	0.861000	0.29849	0.566000	0.28421	0.589000	0.36550	4.224000	0.58593	1.025000	0.39708	0.650000	0.86243	CAG		0.657	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		T	152671470	G	T	152671470	3	4	325	1	0	0	0	0	1	0	0	0	8665	1020	36	3	95	3	LCE2A	1	152671470	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09	44511241	152671470	96579151	3	17385											
TRIM67	440730	genome.wustl.edu	37	1	231335999	231335999	+	Silent	SNP	T	T	C			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr1:231335999T>C	ENST00000366653.5	+	4	1369	c.1369T>C	c.(1369-1371)Tta>Cta	p.L457L	TRIM67_ENST00000366652.2_Silent_p.L457L|TRIM67_ENST00000444294.3_Silent_p.L457L|TRIM67_ENST00000449018.3_Silent_p.L395L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	457	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTCCGGGTTCTTACAGGTGAG	0.547																																																0			1											84	86	85					1																	231335999		1941	4130	6071	229402622	SO:0001819	synonymous_variant	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1369T>C	1.37:g.231335999T>C			229402622	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	CCDS44333.1																																																																																				0.547	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		C	231335999	T	C	231335999	2	2	325	1	0	0	0	0	0	0	0	1	16540	1606	56	4		4	TRIM67	1	231335999	Silent	SNP	T	TCGA-29-1694-01A-01W-0633-09	78664529	231335999	17914622	4	17386											
ALMS1	7840	genome.wustl.edu	37	2	73678657	73678657	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr2:73678657G>A	ENST00000264448.6	+	8	5111	c.5000G>A	c.(4999-5001)aGg>aAg	p.R1667K	ALMS1_ENST00000377715.1_Missense_Mutation_p.R1667K|ALMS1_ENST00000409009.1_Missense_Mutation_p.R1625K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1667	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TACTCAAATAGGGGGAAGCCT	0.463																																																0			2											91	88	89					2																	73678657		1850	4094	5944	73532165	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5000G>A	2.37:g.73678657G>A	ENSP00000264448:p.Arg1667Lys		73532165	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463298	0.26248	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.13901	3.44;3.44;2.55	4.26	-0.838	0.10762	.	2.161710	0.02205	N	0.062627	T	0.13713	0.0332	L	0.50333	1.59	0.09310	N	1	B;B;B	0.24963	0.009;0.115;0.008	B;B;B	0.26517	0.005;0.07;0.01	T	0.24154	-1.0168	10	0.33940	T	0.23	.	3.7512	0.08568	0.3787:0.0:0.4575:0.1639	.	1667;1625;1667	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	K	1625;1667;1667	ENSP00000386627:R1625K;ENSP00000264448:R1667K;ENSP00000366944:R1667K	ENSP00000264448:R1667K	R	+	2	0	ALMS1	73532165	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.067000	0.03451	-0.173000	0.10761	0.563000	0.77884	AGG		0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73678657	G	A	73678657	3	1	325	1	0	0	0	0	1	0	0	0	535	1000	35	2	5030	2	ALMS1	2	73678657	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09		73678657	169520716	5	17387											
TTN	7273	genome.wustl.edu	37	2	179475074	179475074	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr2:179475074G>T	ENST00000591111.1	-	221	46480	c.46256C>A	c.(46255-46257)aCc>aAc	p.T15419N	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T8120N|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T17060N|TTN_ENST00000342992.6_Missense_Mutation_p.T14492N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T8187N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T7995N			Q8WZ42	TITIN_HUMAN	titin	15419	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACTCTTGGTAATGTCACT	0.383																																																0			2											116	113	114					2																	179475074		1849	4091	5940	179183319	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46256C>A	2.37:g.179475074G>T	ENSP00000465570:p.Thr15419Asn		179183319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.25	2.776968	0.49786	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75889	0.3911	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.76457	-0.2952	9	0.87932	D	0	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	7995;8120;8187;15419	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14492;7995;8187;8120;7995	ENSP00000343764:T14492N;ENSP00000434586:T7995N;ENSP00000340554:T8187N;ENSP00000352154:T8120N	ENSP00000340554:T8187N	T	-	2	0	TTN	179183319	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.807000	0.99171	2.760000	0.94817	0.655000	0.94253	ACC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179475074	G	T	179475074	3	4	325	1	0	0	0	0	1	0	0	0	16735	1261	44	3	56882	3	TTN	2	179475074	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09	105796417	179475074	63724299	6	17388											
PARP14	54625	genome.wustl.edu	37	3	122419019	122419019	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr3:122419019C>A	ENST00000474629.2	+	6	1884	c.1618C>A	c.(1618-1620)Cct>Act	p.P540T		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCAGGTTTCTCCTGAGATTTT	0.393																																																0			3											44	41	42					3																	122419019		1830	4094	5924	123901709	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1618C>A	3.37:g.122419019C>A	ENSP00000418194:p.Pro540Thr		123901709	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417319	0.42918	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.09911	2.93	5.45	-0.31	0.12765	.	0.564747	0.16942	N	0.193256	T	0.18383	0.0441	M	0.71581	2.175	0.09310	N	1	P;P	0.51351	0.944;0.926	P;P	0.50825	0.651;0.454	T	0.07046	-1.0793	10	0.66056	D	0.02	.	9.1084	0.36712	0.0:0.5295:0.0:0.4705	.	540;540	Q460N5-4;Q460N5	.;PAR14_HUMAN	T	540;459	ENSP00000418194:P540T	ENSP00000381228:P459T	P	+	1	0	PARP14	123901709	0.000000	0.05858	0.000000	0.03702	0.868000	0.49771	0.355000	0.20163	-0.248000	0.09583	0.650000	0.86243	CCT		0.393	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		A	122419019	C	A	122419019	3	1	325	1	0	0	0	0	1	0	0	0	11458	855	30	3	1640	3	PARP14	3	122419019	Missense_Mutation	SNP	C	TCGA-29-1694-01A-01W-0633-09		122419019	75603411	7	17389											
THBS4	7060	genome.wustl.edu	37	5	79355583	79355583	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr5:79355583C>A	ENST00000350881.2	+	7	1032	c.842C>A	c.(841-843)gCa>gAa	p.A281E	THBS4_ENST00000511733.1_Missense_Mutation_p.A190E|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	281					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GCTCCCCCTGCACCGCCAACA	0.597																																																0			5											124	123	124					5																	79355583		2203	4300	6503	79391339	SO:0001583	missense	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.842C>A	5.37:g.79355583C>A	ENSP00000339730:p.Ala281Glu		79391339	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649731	0.29336	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.86164	-1.96;-2.08	4.81	4.81	0.61882	.	0.247626	0.32231	N	0.006397	T	0.72550	0.3474	N	0.08118	0	0.18873	N	0.999989	B	0.31383	0.321	B	0.29663	0.105	T	0.55218	-0.8175	10	0.02654	T	1	-9.3859	18.0475	0.89337	0.0:1.0:0.0:0.0	.	281	P35443	TSP4_HUMAN	E	281;190	ENSP00000339730:A281E;ENSP00000422298:A190E	ENSP00000339730:A281E	A	+	2	0	THBS4	79391339	0.054000	0.20591	0.076000	0.20297	0.436000	0.31835	2.884000	0.48562	2.656000	0.90262	0.655000	0.94253	GCA		0.597	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			A	79355583	C	A	79355583	3	1	325	1	0	0	0	0	1	0	0	0	15856	710	25	3	868	3	THBS4	5	79355583	Missense_Mutation	SNP	C	TCGA-29-1694-01A-01W-0633-09		79355583	101559677	8	17390											
C6orf186	728464	genome.wustl.edu	37	6	110620245	110620245	+	Silent	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr6:110620245G>A	ENST00000338882.4	-	4	665	c.666C>T	c.(664-666)caC>caT	p.H222H		NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	222						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										GATACCAAAGGTGCTGACTCT	0.483																																																0			6											122	104	110					6																	110620245		1568	3582	5150	110726938	SO:0001819	synonymous_variant	728464				CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 186"	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.666C>T	6.37:g.110620245G>A			110726938	Q6ZSU5	Silent	SNP	ENST00000338882.4	37	CCDS43489.1																																																																																				0.483	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364		A	110620245	G	A	110620245	2	1	325	1	0	0	0	0	0	0	0	1	2347	1252	44	2		2	C6orf186	6	110620245	Silent	SNP	G	TCGA-29-1694-01A-01W-0633-09		110620245	60494822	9	17391											
CDK13	8621	genome.wustl.edu	37	7	40127931	40127931	+	Splice_Site	SNP	G	G	C			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr7:40127931G>C	ENST00000181839.4	+	12	3840		c.e12+1		CDK13_ENST00000340829.5_Splice_Site	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13						alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GTGGCACCTGGTCAGTAATGC	0.448																																																0			7											59	50	53					7																	40127931		2203	4300	6503	40094456	SO:0001630	splice_region_variant	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3235+1G>C	7.37:g.40127931G>C			40094456	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Splice_Site	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210882	0.79240	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5332	0.95237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK13	40094456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.213000	0.89758	2.779000	0.95612	0.650000	0.86243	.		0.448	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	Intron	C	40127931	G	C	40127931	5	2	325	1	0	0	0	0	0	0	1	0	3129	1275	44	3	3282	3	CDK13	7	40127931	Splice_Site	SNP	G	TCGA-29-1694-01A-01W-0633-09		40127931	119010732	10	17392											
CCDC146	57639	genome.wustl.edu	37	7	76916769	76916769	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr7:76916769C>G	ENST00000285871.4	+	17	2417	c.2290C>G	c.(2290-2292)Ctg>Gtg	p.L764V	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.L478V	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	764										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGAACTACAACTGGCCAAGAA	0.433																																																0			7											82	83	83					7																	76916769		2203	4300	6503	76754705	SO:0001583	missense	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2290C>G	7.37:g.76916769C>G	ENSP00000285871:p.Leu764Val		76754705	A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487888	0.64074	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.42900	0.96;0.96	5.2	2.4	0.29515	.	0.148818	0.46442	D	0.000292	T	0.52125	0.1715	M	0.69463	2.115	0.48696	D	0.999691	D;D	0.67145	0.967;0.996	P;P	0.58928	0.556;0.848	T	0.46498	-0.9187	10	0.49607	T	0.09	-3.8323	7.7835	0.29078	0.1316:0.725:0.0:0.1434	.	478;764	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	V	764;478	ENSP00000285871:L764V;ENSP00000413885:L478V	ENSP00000285871:L764V	L	+	1	2	AC007000.1	76754705	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	3.435000	0.52849	0.197000	0.20387	0.467000	0.42956	CTG		0.433	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		G	76916769	C	G	76916769	3	3	325	1	0	0	0	0	1	0	0	0	2780	564	20	3	2352	3	CCDC146	7	76916769	Missense_Mutation	SNP	C	TCGA-29-1694-01A-01W-0633-09	36788838	76916769	82221894	11	17393											
AKAP9	10142	genome.wustl.edu	37	7	91632198	91632198	+	Silent	SNP	A	A	G	rs193135042		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr7:91632198A>G	ENST00000359028.2	+	9	3228	c.3003A>G	c.(3001-3003)caA>caG	p.Q1001Q	AKAP9_ENST00000358100.2_Silent_p.Q1001Q|AKAP9_ENST00000356239.3_Silent_p.Q989Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1001	Glu-rich.			Q -> P (in Ref. 1; AAB86384 and 2; CAB40713). {ECO:0000305}.	G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAAGAACAAGTTTCATTGA	0.338			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0			7											77	80	79					7																	91632198		2203	4300	6503	91470134	SO:0001819	synonymous_variant	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3003A>G	7.37:g.91632198A>G			91470134	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																					0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		G	91632198	A	G	91632198	2	3	325	1	0	0	0	0	0	0	0	1	459	69	3	4		4	AKAP9	7	91632198	Silent	SNP	A	TCGA-29-1694-01A-01W-0633-09	14715429	91632198	67506465	12	17394											
MGAM	8972	genome.wustl.edu	37	7	141762405	141762405	+	Missense_Mutation	SNP	G	G	A	rs368560642		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr7:141762405G>A	ENST00000549489.2	+	35	4255	c.4160G>A	c.(4159-4161)cGt>cAt	p.R1387H	MGAM_ENST00000475668.2_Missense_Mutation_p.R1387H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1387	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACTTTTTCCGTAATTCAACT	0.388																																																0			7						G	HIS/ARG	0,3602		0,0,1801	45	38	40		4160	3.9	1	7		40	3,8075		0,3,4036	no	missense	MGAM	NM_004668.2	29	0,3,5837	AA,AG,GG		0.0371,0.0,0.0257	probably-damaging	1387/1858	141762405	3,11677	1801	4039	5840	141408874	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4160G>A	7.37:g.141762405G>A	ENSP00000447378:p.Arg1387His		141408874	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392288	0.62066	0.0	3.71E-4	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92752	-3.1	3.87	3.87	0.44632	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.85221	0.5647	L	0.31120	0.905	0.33906	D	0.639044	B	0.29716	0.255	B	0.21708	0.036	D	0.86805	0.1994	9	0.44086	T	0.13	.	10.1486	0.42780	0.0:0.0:0.7997:0.2003	.	1387	O43451	MGA_HUMAN	H	1387;1387;1264	ENSP00000447378:R1387H	ENSP00000316431:R1264H	R	+	2	0	MGAM	141408874	1.000000	0.71417	0.994000	0.49952	0.843000	0.47879	5.493000	0.66899	1.707000	0.51288	0.306000	0.20318	CGT		0.388	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141762405	G	A	141762405	3	1	325	1	0	0	0	0	1	0	0	0	9541	1145	40	1	4294	1	MGAM	7	141762405	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09	50130207	141762405	17376258	13	17395											
KIF13B	23303	genome.wustl.edu	37	8	29039455	29039455	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr8:29039455A>T	ENST00000524189.1	-	7	604	c.566T>A	c.(565-567)cTg>cAg	p.L189Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.L189Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	189	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGTGACAGCCAGTTTAGAAAG	0.373																																																0			8											122	116	118					8																	29039455		1850	4097	5947	29095374	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.566T>A	8.37:g.29039455A>T	ENSP00000427900:p.Leu189Gln		29095374	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363979	0.82353	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	D;D	0.88818	-2.43;-2.43	5.42	5.42	0.78866	Kinesin, motor domain (4);	0.069789	0.64402	D	0.000016	D	0.92818	0.7716	L	0.53249	1.67	0.80722	D	1	D;D;P	0.89917	0.998;1.0;0.935	D;D;P	0.78314	0.947;0.991;0.658	D	0.93548	0.6884	10	0.87932	D	0	.	15.6246	0.76845	1.0:0.0:0.0:0.0	.	175;189;189	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	Q	189	ENSP00000427900:L189Q;ENSP00000429201:L189Q	ENSP00000429201:L189Q	L	-	2	0	KIF13B	29095374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.761000	0.91691	2.272000	0.75746	0.460000	0.39030	CTG		0.373	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			T	29039455	A	T	29039455	3	4	325	1	0	0	0	0	1	0	0	0	8275	188	7	5	5050	5	KIF13B	8	29039455	Missense_Mutation	SNP	A	TCGA-29-1694-01A-01W-0633-09		29039455	117324567	14	17396											
CHD7	55636	genome.wustl.edu	37	8	61749528	61749528	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr8:61749528G>T	ENST00000423902.2	+	17	4621	c.4142G>T	c.(4141-4143)tGc>tTc	p.C1381F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1381	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTGATACCTGCATCATCTTT	0.433																																																0			8											136	137	137					8																	61749528		2133	4276	6409	61912082	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4142G>T	8.37:g.61749528G>T	ENSP00000392028:p.Cys1381Phe		61912082	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930362	0.92389	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.75477	-0.94	5.93	5.93	0.95920	Helicase, C-terminal (3);	0.054396	0.85682	D	0.000000	D	0.86569	0.5964	M	0.70595	2.14	0.80722	D	1	D	0.54601	0.967	D	0.72625	0.978	D	0.86527	0.1819	10	0.87932	D	0	-12.1848	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1381	Q9P2D1	CHD7_HUMAN	F	1381	ENSP00000392028:C1381F	ENSP00000307304:C1381F	C	+	2	0	CHD7	61912082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TGC		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		T	61749528	G	T	61749528	3	4	325	1	0	0	0	0	1	0	0	0	3330	1319	46	3	4204	3	CHD7	8	61749528	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09	32710073	61749528	84614494	15	17397											
TG	7038	genome.wustl.edu	37	8	134146966	134146966	+	Missense_Mutation	SNP	G	G	T	rs368489792		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr8:134146966G>T	ENST00000220616.4	+	48	8275	c.8235G>T	c.(8233-8235)ttG>ttT	p.L2745F	TG_ENST00000519543.1_Missense_Mutation_p.L878F|TG_ENST00000542445.1_Missense_Mutation_p.L1115F|TG_ENST00000377869.1_Missense_Mutation_p.L2688F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2745					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGAGGAGTTGACGGCTGGAT	0.542																																																0			8											116	99	105					8																	134146966		2203	4300	6503	134216148	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8235G>T	8.37:g.134146966G>T	ENSP00000220616:p.Leu2745Phe		134216148	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.68|11.68	1.709564|1.709564	0.30322|0.30322	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	.|T;T;T;T;T	.|0.68479	.|-0.12;-0.13;-0.33;-0.32;0.82	3.52|3.52	-2.76|-2.76	0.05896|0.05896	.|.	.|8.243810	.|0.00166	.|N	.|0.000000	T|T	0.55097|0.55097	0.1899|0.1899	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.56521	.|0.956;0.969;0.976	.|P;P;P	.|0.47827	.|0.459;0.558;0.459	T|T	0.50048|0.50048	-0.8873|-0.8873	5|10	.|0.46703	.|T	.|0.11	.|.	5.0828|5.0828	0.14666|0.14666	0.5331:0.1655:0.3015:0.0|0.5331:0.1655:0.3015:0.0	.|.	.|878;1115;2745	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Y|F	1201|2688;1551;2745;864;1115;878;149	.|ENSP00000367100:L2688F;ENSP00000220616:L2745F;ENSP00000441693:L1115F;ENSP00000430430:L878F;ENSP00000430161:L149F	.|ENSP00000220616:L2745F	D|L	+|+	1|3	0|2	TG|TG	134216148|134216148	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.086000|0.086000	0.17979|0.17979	0.289000|0.289000	0.18957|0.18957	-0.696000|-0.696000	0.05098|0.05098	0.313000|0.313000	0.20887|0.20887	GAC|TTG		0.542	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134146966	G	T	134146966	3	4	325	1	0	0	0	0	1	0	0	0	15813	1281	45	3	8425	3	TG	8	134146966	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09	72397438	134146966	12217056	16	17398											
TAF1L	138474	genome.wustl.edu	37	9	32633772	32633772	+	Silent	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr9:32633772G>T	ENST00000242310.4	-	1	1895	c.1806C>A	c.(1804-1806)acC>acA	p.T602T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	602					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCTCCAAAGGTGCCCCGAA	0.483																																																0			9											145	153	151					9																	32633772		2203	4300	6503	32623772	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1806C>A	9.37:g.32633772G>T			32623772	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			T	32633772	G	T	32633772	2	4	325	1	0	0	0	0	0	0	0	1	15523	987	35	3		3	TAF1L	9	32633772	Silent	SNP	G	TCGA-29-1694-01A-01W-0633-09		32633772	108579659	17	17399											
OR13C8	138802	genome.wustl.edu	37	9	107331905	107331905	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr9:107331905C>A	ENST00000335040.1	+	1	457	c.457C>A	c.(457-459)Ctt>Att	p.L153I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGTCACTGGGCTTGTGGACTC	0.483																																																0			9											116	105	109					9																	107331905		2203	4300	6503	106371726	SO:0001583	missense	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.457C>A	9.37:g.107331905C>A	ENSP00000334068:p.Leu153Ile		106371726	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.181212	0.01633	.	.	ENSG00000186943	ENST00000335040	T	0.00216	8.53	5.18	-4.31	0.03698	GPCR, rhodopsin-like superfamily (1);	1.349040	0.05019	N	0.472405	T	0.00144	0.0004	L	0.39326	1.205	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.10451	-1.0629	10	0.24483	T	0.36	.	4.6926	0.12788	0.479:0.1854:0.0:0.3356	.	153	Q8NGS7	O13C8_HUMAN	I	153	ENSP00000334068:L153I	ENSP00000334068:L153I	L	+	1	0	OR13C8	106371726	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.511000	0.02260	-0.686000	0.05170	-0.878000	0.02970	CTT		0.483	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			A	107331905	C	A	107331905	3	1	325	1	0	0	0	0	1	0	0	0	10938	797	28	3	459	3	OR13C8	9	107331905	Missense_Mutation	SNP	C	TCGA-29-1694-01A-01W-0633-09	74698133	107331905	33881526	18	17400											
CDK5RAP2	55755	genome.wustl.edu	37	9	123199627	123199627	+	Nonsense_Mutation	SNP	G	G	A	rs375727174		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr9:123199627G>A	ENST00000349780.4	-	25	4080	c.3901C>T	c.(3901-3903)Cag>Tag	p.Q1301*	CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q1301*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q1269*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q1260*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1301					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGATTCAGCTGTTCCTGGAAA	0.478																																																0			9						G	stop/GLN,stop/GLN	0,4406		0,0,2203	164	123	136		3901,3901	5.9	1	9		136	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	CDK5RAP2	NM_001011649.1,NM_018249.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1301/1815,1301/1894	123199627	1,13005	2203	4300	6503	122239448	SO:0001587	stop_gained	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3901C>T	9.37:g.123199627G>A	ENSP00000343818:p.Gln1301*		122239448	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	40	7.920217	0.98563	0.0	1.16E-4	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	1269;1260;1301;1301;695;311;1073	.	ENSP00000341695:Q1073X	Q	-	1	0	CDK5RAP2	122239448	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	CAG		0.478	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		A	123199627	G	A	123199627	4	1	325	1	0	0	0	0	0	1	0	0	3146	1386	48	2	1836	2	CDK5RAP2	9	123199627	Nonsense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09	15867722	123199627	18013804	19	17401											
HTR7	3363	genome.wustl.edu	37	10	92509151	92509151	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr10:92509151G>T	ENST00000336152.3	-	2	766	c.740C>A	c.(739-741)gCa>gAa	p.A247E	HTR7_ENST00000277874.6_Missense_Mutation_p.A247E|HTR7_ENST00000371719.2_Missense_Mutation_p.A247E|HTR7_ENST00000371721.3_Missense_Mutation_p.A247E	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	247					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATATAAAATGCCACTGCGGT	0.463																																																0			10											80	84	83					10																	92509151		2203	4300	6503	92499131	SO:0001583	missense	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.740C>A	10.37:g.92509151G>T	ENSP00000337949:p.Ala247Glu		92499131	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000779	0.93227	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.91215	0.5002	10	0.87932	D	0	.	20.0697	0.97716	0.0:0.0:1.0:0.0	.	247;247	P34969;P34969-2	5HT7R_HUMAN;.	E	247	ENSP00000337949:A247E;ENSP00000277874:A247E;ENSP00000360784:A247E;ENSP00000360786:A247E	ENSP00000277874:A247E	A	-	2	0	HTR7	92499131	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	9.869000	0.99810	2.756000	0.94617	0.650000	0.86243	GCA		0.463	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		T	92509151	G	T	92509151	3	4	325	1	0	0	0	0	1	0	0	0	7452	1319	46	3	715	3	HTR7	10	92509151	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09		92509151	43025596	20	17402											
OR51B5	282763	genome.wustl.edu	37	11	5364098	5364098	+	Silent	SNP	T	T	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr11:5364098T>A	ENST00000300773.2	-	1	711	c.657A>T	c.(655-657)atA>atT	p.I219I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	219					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTCTTGAGTATCAACACAT	0.463																																																0			11											112	110	111					11																	5364098		2201	4297	6498	5320674	SO:0001819	synonymous_variant	282763			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"GPCR / Class A : Olfactory receptors"	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.657A>T	11.37:g.5364098T>A			5320674	B2RN59	Silent	SNP	ENST00000300773.2	37	CCDS31378.1																																																																																				0.463	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		A	5364098	T	A	5364098	2	1	325	1	0	0	0	0	0	0	0	1	11091	1628	57	5		5	OR51B5	11	5364098	Silent	SNP	T	TCGA-29-1694-01A-01W-0633-09		5364098	129642418	21	17403											
OR4C6	219432	genome.wustl.edu	37	11	55433525	55433532	+	Frame_Shift_Del	DEL	GCCATGAA	GCCATGAA	-			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	GCCATGAA	GCCATGAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr11:55433525_55433532delGCCATGAA	ENST00000314259.3	+	1	912_919	c.883_890delGCCATGAA	c.(883-891)gccatgaagfs	p.AMK295fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A295D(2)|p.M296V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGTGAAAAGTGCCATGAAGAAACTCTGG	0.433																																																3	Substitution - Missense(3)	lung(2)|endometrium(1)	11																																								55190108	SO:0001589	frameshift_variant	219432			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.883_890delGCCATGAA	11.37:g.55433525_55433532delGCCATGAA	ENSP00000324769:p.Ala295fs		55190101	B2RP11|Q6IFD2	Frame_Shift_Del	DEL	ENST00000314259.3	37	CCDS31506.1																																																																																				0.433	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		-	55433532	GCCATGAA	-	55433525	7	5	325	1	0	1	0	1	0	0	0	0	11052	1319	46	0	885	0	OR4C6	11	55433525	Frame_Shift_Del	DEL	GCCATGAA	TCGA-29-1694-01A-01W-0633-09	50069427	55433525	79572991	22	17404											
KDM5A	5927	genome.wustl.edu	37	12	438006	438006	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr12:438006G>C	ENST00000399788.2	-	14	2325	c.1963C>G	c.(1963-1965)Cag>Gag	p.Q655E	KDM5A_ENST00000382815.4_Missense_Mutation_p.Q655E	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	655					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTCACCATCTGTACAACAGAC	0.413			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0			12											89	86	87					12																	438006		1942	4150	6092	308267	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1963C>G	12.37:g.438006G>C	ENSP00000382688:p.Gln655Glu		308267	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	1.527	-0.545250	0.04024	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;T	0.83506	-1.73;-1.54;-1.39	4.8	3.9	0.45041	.	0.241593	0.42682	D	0.000661	T	0.65954	0.2741	N	0.12182	0.205	0.39922	D	0.974174	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.10450	0.001;0.001;0.002;0.005	T	0.60677	-0.7216	10	0.02654	T	1	-4.0733	14.5766	0.68252	0.0:0.0:0.8525:0.1475	.	274;655;655;655	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	E	274;614;655;655;274	ENSP00000382688:Q655E;ENSP00000372265:Q655E;ENSP00000440622:Q274E	ENSP00000261253:Q274E	Q	-	1	0	KDM5A	308267	1.000000	0.71417	0.856000	0.33681	0.982000	0.71751	4.811000	0.62606	1.123000	0.41961	0.462000	0.41574	CAG		0.413	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		C	438006	G	C	438006	3	2	325	1	0	0	0	0	1	0	0	0	8133	1386	48	3	3169	3	KDM5A	12	438006	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09		438006	133413889	23	17405											
TMEM132D	121256	genome.wustl.edu	37	12	129566528	129566528	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr12:129566528C>T	ENST00000422113.2	-	7	2025	c.1699G>A	c.(1699-1701)Ggc>Agc	p.G567S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G105S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	567					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGGTGCAGCCGCGGCCCCTC	0.642																																																0			12											48	50	49					12																	129566528		2203	4300	6503	128132481	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1699G>A	12.37:g.129566528C>T	ENSP00000408581:p.Gly567Ser		128132481	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440038	0.83993	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.30981	1.51;1.51	4.72	4.72	0.59763	.	0.080003	0.52532	D	0.000074	T	0.53769	0.1817	M	0.75884	2.315	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	P;P	0.62382	0.721;0.901	T	0.57476	-0.7805	9	.	.	.	-38.4624	17.6741	0.88225	0.0:1.0:0.0:0.0	.	567;105	Q14C87;Q14C87-2	T132D_HUMAN;.	S	105;567	ENSP00000374092:G105S;ENSP00000408581:G567S	.	G	-	1	0	TMEM132D	128132481	0.937000	0.31787	0.889000	0.34880	0.974000	0.67602	1.989000	0.40707	2.149000	0.67028	0.561000	0.74099	GGC		0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129566528	C	T	129566528	3	4	325	1	0	0	0	0	1	0	0	0	16047	652	23	1	1612	1	TMEM132D	12	129566528	Missense_Mutation	SNP	C	TCGA-29-1694-01A-01W-0633-09	129128522	129566528	4285367	24	17406											
RYR3	6263	genome.wustl.edu	37	15	33926808	33926819	+	In_Frame_Del	DEL	CCCCGTCTGGTG	CCCCGTCTGGTG	-	rs371947863		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	CCCCGTCTGGTG	CCCCGTCTGGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr15:33926808_33926819delCCCCGTCTGGTG	ENST00000389232.4	+	25	3119_3130	c.3049_3060delCCCCGTCTGGTG	c.(3049-3060)ccccgtctggtgdel	p.PRLV1017del	RYR3_ENST00000415757.3_In_Frame_Del_p.PRLV1017del	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1017	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAAAGAAATCCCCGTCTGGTGCCATATGCAT	0.467																																																0			15																																								31714111	SO:0001651	inframe_deletion	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3049_3060delCCCCGTCTGGTG	15.37:g.33926808_33926819delCCCCGTCTGGTG	ENSP00000373884:p.Pro1017_Val1020del		31714100	O15175|Q15412	In_Frame_Del	DEL	ENST00000389232.4	37	CCDS45210.1																																																																																				0.467	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			-	33926819	CCCCGTCTGGTG	-	33926808	7	5	325	1	0	1	0	1	0	0	0	0	13773	855	30	0	3147	0	RYR3	15	33926808	In_Frame_Del	DEL	CCCCGTCTGGTG	TCGA-29-1694-01A-01W-0633-09		33926808	68604584	25	17407											
MYH2	4620	genome.wustl.edu	37	17	10424610	10424610	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr17:10424610A>T	ENST00000245503.5	-	40	6197	c.5813T>A	c.(5812-5814)aTa>aAa	p.I1938K	CTC-297N7.11_ENST00000587182.2_RNA|MYH1_ENST00000226207.5_5'Flank|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.I1938K|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.I705K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1938					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCTTCACTTATGACTTTTGT	0.483																																																0			17											203	191	195					17																	10424610		2203	4300	6503	10365335	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5813T>A	17.37:g.10424610A>T	ENSP00000245503:p.Ile1938Lys		10365335	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.808080	0.31961	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.78003	2.3;-1.14;-1.14	5.55	5.55	0.83447	.	0.425407	0.17542	U	0.170483	T	0.55593	0.1930	N	0.11560	0.145	0.40849	D	0.983737	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52343	-0.8588	10	0.06365	T	0.9	.	10.2209	0.43196	0.9268:0.0:0.0732:0.0	.	705;1938	Q567P6;Q9UKX2	.;MYH2_HUMAN	K	705;1938;1938	ENSP00000433944:I705K;ENSP00000245503:I1938K;ENSP00000380367:I1938K	ENSP00000245503:I1938K	I	-	2	0	MYH2	10365335	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.059000	0.49947	2.333000	0.79357	0.482000	0.46254	ATA		0.483	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10424610	A	T	10424610	3	4	325	1	0	0	0	0	1	0	0	0	10035	449	16	5	16	5	MYH2	17	10424610	Missense_Mutation	SNP	A	TCGA-29-1694-01A-01W-0633-09		10424610	70770600	26	17408											
DNAH9	1770	genome.wustl.edu	37	17	11757664	11757664	+	Silent	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr17:11757664C>A	ENST00000262442.4	+	50	9920	c.9852C>A	c.(9850-9852)ccC>ccA	p.P3284P	DNAH9_ENST00000454412.2_Silent_p.P3284P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3284	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGTGGAACCCAAGCGCCAGG	0.557																																																0			17											79	81	81					17																	11757664		2203	4300	6503	11698389	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9852C>A	17.37:g.11757664C>A			11698389	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11757664	C	A	11757664	2	1	325	1	0	0	0	0	0	0	0	1	4608	581	21	3		3	DNAH9	17	11757664	Silent	SNP	C	TCGA-29-1694-01A-01W-0633-09	1333054	11757664	69437546	27	17409											
NF1	4763	genome.wustl.edu	37	17	29559877	29559889	+	Frame_Shift_Del	DEL	CAGTGGTCTCATG	CAGTGGTCTCATG	-	rs200732832		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	CAGTGGTCTCATG	CAGTGGTCTCATG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr17:29559877_29559889delCAGTGGTCTCATG	ENST00000358273.4	+	26	3857_3869	c.3474_3486delCAGTGGTCTCATG	c.(3472-3486)gacagtggtctcatgfs	p.DSGLM1158fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.DSGLM1158fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1158					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAACGTAGACAGTGGTCTCATGCACTCCATAG	0.451			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17																																								26584015	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3474_3486delCAGTGGTCTCATG	17.37:g.29559877_29559889delCAGTGGTCTCATG	ENSP00000351015:p.Asp1158fs		26584003	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.451	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29559889	CAGTGGTCTCATG	-	29559877	7	5	325	1	0	1	0	1	0	0	0	0	10356	477	17	0	3637	0	NF1	17	29559877	Frame_Shift_Del	DEL	CAGTGGTCTCATG	TCGA-29-1694-01A-01W-0633-09	17802213	29559877	51635333	28	17410											
KLK11	11012	genome.wustl.edu	37	19	51527575	51527575	+	Intron	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr19:51527575G>T	ENST00000594768.1	-	4	479				KLK11_ENST00000594458.1_Intron|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000453757.3_Intron|KLK11_ENST00000391804.3_Silent_p.S88S|KLK11_ENST00000319720.7_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GGCTGAGGTGGGAGAGACAGT	0.592																																																0			19											75	88	83					19																	51527575		2203	4300	6503	56219387	SO:0001627	intron_variant	11012			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.294-9C>A	19.37:g.51527575G>T			56219387	O75837|Q0WXX5|Q8IXD7|Q9NS65	Silent	SNP	ENST00000594768.1	37	CCDS12818.1																																																																																				0.592	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853		T	51527575	G	T	51527575	1	4	325	0	1	0	0	0	0	0	0	0	8399	1219	43	3		3	KLK11	19	51527575	Intron	SNP	G	TCGA-29-1694-01A-01W-0633-09		51527575	7601408	29	17411											
LILRB4	11006	genome.wustl.edu	37	19	55179377	55179377	+	Missense_Mutation	SNP	T	T	G	rs149600113		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr19:55179377T>G	ENST00000391736.1	+	14	1569	c.1254T>G	c.(1252-1254)ttT>ttG	p.F418L	LILRB4_ENST00000430952.2_Missense_Mutation_p.F417L|LILRB4_ENST00000270452.2_Missense_Mutation_p.F418L|LILRB4_ENST00000391733.3_Missense_Mutation_p.F419L|LILRB4_ENST00000391734.3_Missense_Mutation_p.F365L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	418					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCACAGCTTTACCCTCAGAC	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		16015	0		0	False		,,,				2504	0															0			19											93	97	95					19																	55179377		2203	4300	6503	59871189	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1254T>G	19.37:g.55179377T>G	ENSP00000375616:p.Phe418Leu		59871189	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.292496	0.01375	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00460	7.32;7.32;7.31;7.27;7.33	2.07	-0.638	0.11500	.	.	.	.	.	T	0.00073	0.0002	N	0.00251	-1.775	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	0.6834	0.00878	0.1703:0.2396:0.3472:0.2428	.	365;419;417;418	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	L	418;418;417;365;419	ENSP00000375616:F418L;ENSP00000270452:F418L;ENSP00000408995:F417L;ENSP00000375614:F365L;ENSP00000375613:F419L	ENSP00000270452:F418L	F	+	3	2	LILRB4	59871189	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.085000	0.14912	-0.134000	0.11516	-0.484000	0.04775	TTT		0.627	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			G	55179377	T	G	55179377	3	3	325	1	0	0	0	0	1	0	0	0	8793	1751	61	5	1300	5	LILRB4	19	55179377	Missense_Mutation	SNP	T	TCGA-29-1694-01A-01W-0633-09	3651802	55179377	3949606	30	17412											
ZIK1	284307	genome.wustl.edu	37	19	58102040	58102040	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr19:58102040A>T	ENST00000597850.1	+	4	1076	c.861A>T	c.(859-861)agA>agT	p.R287S	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.R232S|ZIK1_ENST00000536878.2_Missense_Mutation_p.R274S	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCATCGGAGAATCCACACCG	0.453																																																0			19											62	63	63					19																	58102040		2203	4300	6503	62793852	SO:0001583	missense	284307			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.861A>T	19.37:g.58102040A>T	ENSP00000472867:p.Arg287Ser		62793852	O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550682	0.65311	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.24151	1.87	3.06	-3.91	0.04168	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34424	0.0897	L	0.53671	1.685	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.982;0.995	T	0.25676	-1.0125	9	0.66056	D	0.02	.	1.3223	0.02118	0.363:0.2261:0.285:0.1259	.	274;287	F5H435;Q3SY52	.;ZIK1_HUMAN	S	274;268;287	ENSP00000438487:R274S	ENSP00000303820:R287S	R	+	3	2	ZIK1	62793852	0.000000	0.05858	0.000000	0.03702	0.757000	0.42996	-0.601000	0.05687	-0.704000	0.05042	0.460000	0.39030	AGA		0.453	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		T	58102040	A	T	58102040	3	4	325	1	0	0	0	0	1	0	0	0	17683	243	9	5	875	5	ZIK1	19	58102040	Missense_Mutation	SNP	A	TCGA-29-1694-01A-01W-0633-09	2922663	58102040	1026943	31	17413											
PAK7	57144	genome.wustl.edu	37	20	9523271	9523271	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr20:9523271G>A	ENST00000378429.3	-	10	2512	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W	PAK7_ENST00000353224.5_Missense_Mutation_p.R656W|PAK7_ENST00000378423.1_Missense_Mutation_p.R656W	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAACTGTCCCGGATCCTCCGC	0.502																																																0			20											145	145	145					20																	9523271		2203	4300	6503	9471271	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1966C>T	20.37:g.9523271G>A	ENSP00000367686:p.Arg656Trp		9471271	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345601	0.82022	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.67523	-0.27;-0.27;-0.27	5.48	4.53	0.55603	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	0.78368	0.4272	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78265	-0.2271	9	.	.	.	.	13.4971	0.61432	0.0:0.0:0.7157:0.2843	.	656	Q9P286	PAK7_HUMAN	W	656	ENSP00000367686:R656W;ENSP00000322957:R656W;ENSP00000367679:R656W	.	R	-	1	2	PAK7	9471271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.547000	0.67249	1.329000	0.45376	-0.152000	0.13540	CGG		0.502	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			A	9523271	G	A	9523271	3	1	325	1	0	0	0	0	1	0	0	0	11405	1115	39	1	201	1	PAK7	20	9523271	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09		9523271	53502249	32	17414											
CHEK2	11200	genome.wustl.edu	37	22	29083975	29083975	+	Splice_Site	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr22:29083975C>A	ENST00000405598.1	-	16	1734		c.e16-1		CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000404276.1_Splice_Site|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000544772.1_Splice_Site|CHEK2_ENST00000382566.1_Splice_Site|CHEK2_ENST00000382565.1_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site			O96017	CHK2_HUMAN	checkpoint kinase 2						cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TAGTAGAAGGCTGAAAATAAA	0.473			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0			22											23	26	25					22																	29083975		1346	2288	3634	27413975	SO:0001630	splice_region_variant	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1543-1G>T	22.37:g.29083975C>A			27413975	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Splice_Site	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508870	0.64410	.	.	ENSG00000183765	ENST00000434810;ENST00000456369;ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6477	0.62292	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHEK2	27413975	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.599000	0.54045	2.351000	0.79841	0.557000	0.71058	.		0.473	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	Intron	A	29083975	C	A	29083975	5	1	325	1	0	0	0	0	0	0	1	0	3335	811	28	3	93	3	CHEK2	22	29083975	Splice_Site	SNP	C	TCGA-29-1694-01A-01W-0633-09		29083975	22220591	33	17415											
KAL1	3730	genome.wustl.edu	37	X	8522030	8522030	+	Silent	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chrX:8522030G>T	ENST00000262648.3	-	9	1466	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	439	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTTGCAGTTGGCCATCCTGAT	0.408																																																0			X											124	108	114					X																	8522030		2203	4300	6503	8482030	SO:0001819	synonymous_variant	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1317C>A	X.37:g.8522030G>T			8482030	B2RPF8	Silent	SNP	ENST00000262648.3	37	CCDS14130.1																																																																																				0.408	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		T	8522030	G	T	8522030	2	4	325	1	0	0	0	0	0	0	0	1	7974	1190	42	3		3	KAL1	23	8522030	Silent	SNP	G	TCGA-29-1694-01A-01W-0633-09		8522030	146748530	34	17416											
SLC38A5	92745	genome.wustl.edu	37	X	48317932	48317932	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chrX:48317932G>A	ENST00000376876.3	-	15	2150	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.P385L|SLC38A5_ENST00000317669.5_Missense_Mutation_p.P436L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	436					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTGGATCTTGGGCCAGGATAA	0.582																																																0			X											47	39	42					X																	48317932		2199	4298	6497	48202876	SO:0001583	missense	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1307C>T	X.37:g.48317932G>A	ENSP00000366073:p.Pro436Leu		48202876	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	18.48	3.633913	0.67130	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02395	4.31;4.31;4.31	5.28	4.4	0.53042	.	0.165521	0.53938	D	0.000044	T	0.15176	0.0366	M	0.87038	2.855	0.80722	D	1	D	0.53151	0.958	P	0.62184	0.899	T	0.00420	-1.1750	10	0.52906	T	0.07	.	12.6635	0.56828	0.0:0.1633:0.8367:0.0	.	436	Q8WUX1	S38A5_HUMAN	L	436;385;436	ENSP00000366073:P436L;ENSP00000366071:P385L;ENSP00000313740:P436L	ENSP00000313740:P436L	P	-	2	0	SLC38A5	48202876	1.000000	0.71417	0.984000	0.44739	0.966000	0.64601	5.237000	0.65360	0.995000	0.38917	0.523000	0.50628	CCC		0.582	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		A	48317932	G	A	48317932	3	1	325	1	0	0	0	0	1	0	0	0	14610	1232	43	2	119	2	SLC38A5	23	48317932	Missense_Mutation	SNP	G	TCGA-29-1694-01A-01W-0633-09	39795902	48317932	106952628	35	17417											
SYPL2	284612	genome.wustl.edu	37	1	110018217	110018217	+	Silent	SNP	C	C	T	rs368388571		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr1:110018217C>T	ENST00000369872.3	+	3	360	c.144C>T	c.(142-144)ttC>ttT	p.F48F	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.F48F	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	48	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGCTATTTTCGCCTTCGGGT	0.547																																																0			1						C		1,3877		0,1,1938	59	62	61		144	4	1	1		61	0,8272		0,0,4136	no	coding-synonymous	SYPL2	NM_001040709.1		0,1,6074	TT,TC,CC		0.0,0.0258,0.0082		48/273	110018217	1,12149	1939	4136	6075	109819740	SO:0001819	synonymous_variant	284612			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"mitsugumin-29"					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.144C>T	1.37:g.110018217C>T			109819740	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP	ENST00000369872.3	37	CCDS41365.1																																																																																				0.547	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		T	110018217	C	T	110018217	2	4	326	1	0	0	0	0	0	0	0	1	15463	883	31	1		1	SYPL2	1	110018217	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09		110018217	139232404	1	17418											
SYPL2	284612	genome.wustl.edu	37	1	110019488	110019488	+	Silent	SNP	C	C	T	rs371487864		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr1:110019488C>T	ENST00000369872.3	+	4	561	c.345C>T	c.(343-345)gcC>gcT	p.A115A	SYPL2_ENST00000401021.3_Silent_p.A115A	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	115	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGCACCCGCCGAGTTCTTCG	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		19656	0		0	False		,,,				2504	0															0			1						C		2,3994		0,2,1996	91	96	94		345	-10.9	0	1		94	0,8346		0,0,4173	no	coding-synonymous	SYPL2	NM_001040709.1		0,2,6169	TT,TC,CC		0.0,0.0501,0.0162		115/273	110019488	2,12340	1998	4173	6171	109821011	SO:0001819	synonymous_variant	284612			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"mitsugumin-29"					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.345C>T	1.37:g.110019488C>T			109821011	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP	ENST00000369872.3	37	CCDS41365.1																																																																																				0.537	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		T	110019488	C	T	110019488	2	4	326	1	0	0	0	0	0	0	0	1	15463	639	23	1		1	SYPL2	1	110019488	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09	1271	110019488	139231133	2	17419											
DDR2	4921	genome.wustl.edu	37	1	162745441	162745441	+	Splice_Site	SNP	G	G	C			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr1:162745441G>C	ENST00000367922.3	+	16	2294		c.e16-1		RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Splice_Site	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ATCCTCCCAAGGAATGATTTT	0.423																																					NSCLC(161;314 2006 8283 19651 23192)											0			1											87	86	86					1																	162745441		2203	4300	6503	161012065	SO:0001630	splice_region_variant	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1857-1G>C	1.37:g.162745441G>C			161012065	Q7Z730	Splice_Site	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573941	0.86542	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.467	0.87635	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDR2	161012065	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.671000	0.98627	2.507000	0.84556	0.591000	0.81541	.		0.423	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	Intron	C	162745441	G	C	162745441	5	2	326	1	0	0	0	0	0	0	1	0	4337	1014	35	3	1906	3	DDR2	1	162745441	Splice_Site	SNP	G	TCGA-29-1695-01A-01W-0633-09	52725953	162745441	86505180	3	17420											
LMX1A	4009	genome.wustl.edu	37	1	165182958	165182958	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr1:165182958G>A	ENST00000342310.3	-	5	971	c.589C>T	c.(589-591)Cgt>Tgt	p.R197C	RP11-38C18.2_ENST00000457106.1_RNA|RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000294816.2_Missense_Mutation_p.R197C|LMX1A_ENST00000489443.2_5'Flank|LMX1A_ENST00000367893.4_Missense_Mutation_p.R197C	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	197					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GTTCTCGGACGTTTGGGGCGC	0.517																																																0			1											244	219	228					1																	165182958		2203	4300	6503	163449582	SO:0001583	missense	4009			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.589C>T	1.37:g.165182958G>A	ENSP00000340226:p.Arg197Cys		163449582	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138201	0.77775	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.97161	-4.27;-4.27;-4.27	5.64	4.67	0.58626	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99004	0.9660	H	0.98199	4.17	0.80722	D	1.000000	D	0.89917	1.0	D	0.87578	0.998	D	0.99069	1.0833	9	0.87932	D	0	.	12.9675	0.58492	0.0:0.0:0.7187:0.2813	.	197	Q8TE12	LMX1A_HUMAN	C	197	ENSP00000340226:R197C;ENSP00000294816:R197C;ENSP00000356868:R197C	ENSP00000294816:R197C	R	-	1	0	LMX1A	163449582	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.806000	0.38892	2.637000	0.89404	0.650000	0.86243	CGT		0.517	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		A	165182958	G	A	165182958	3	1	326	1	0	0	0	0	1	0	0	0	8861	1145	40	1	579	1	LMX1A	1	165182958	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	2437517	165182958	84067663	4	17421											
BAT2L2	23215	genome.wustl.edu	37	1	171560762	171560762	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr1:171560762C>T	ENST00000338920.4	+	34	8467	c.8230C>T	c.(8230-8232)Cgg>Tgg	p.R2744W	PRRC2C_ENST00000367742.3_Missense_Mutation_p.R2746W|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R2825W|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R2679W	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2823					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GTCCACGCAACGGTTCTTCTC	0.448																																																0			1											82	79	80					1																	171560762		1929	4142	6071	169827385	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8230C>T	1.37:g.171560762C>T	ENSP00000343629:p.Arg2744Trp		169827385	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371119	0.42003	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02916	4.22;4.12;4.11;4.11	5.93	5.93	0.95920	.	.	.	.	.	T	0.05914	0.0154	L	0.36672	1.1	0.38880	D	0.956887	D;D	0.89917	1.0;1.0	D;D	0.76071	0.948;0.987	T	0.35201	-0.9798	9	0.66056	D	0.02	.	15.9834	0.80130	0.1426:0.8574:0.0:0.0	.	2679;2744	B7WNZ6;Q9Y520-4	.;.	W	2825;2777;2679;2746;2744;2580	ENSP00000375928:R2825W;ENSP00000410219:R2679W;ENSP00000356716:R2746W;ENSP00000343629:R2744W	ENSP00000343629:R2744W	R	+	1	2	PRRC2C	169827385	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.407000	0.52644	2.814000	0.96858	0.591000	0.81541	CGG		0.448	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		T	171560762	C	T	171560762	3	4	326	1	0	0	0	0	1	0	0	0	1321	527	19	1	8252	1	BAT2L2	1	171560762	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	6377804	171560762	77689859	5	17422											
NLRP3	114548	genome.wustl.edu	37	1	247587589	247587589	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr1:247587589G>A	ENST00000336119.3	+	3	1590	c.844G>A	c.(844-846)Gac>Aac	p.D282N	NLRP3_ENST00000348069.2_Missense_Mutation_p.D282N|NLRP3_ENST00000391827.2_Missense_Mutation_p.D282N|NLRP3_ENST00000366496.2_Missense_Mutation_p.D282N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.D282N|NLRP3_ENST00000366497.2_Missense_Mutation_p.D282N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	282	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGCTGCCCCGACCCAAACCC	0.537																																																0			1											66	68	67					1																	247587589		2203	4300	6503	245654212	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.844G>A	1.37:g.247587589G>A	ENSP00000337383:p.Asp282Asn		245654212	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383515	0.25031	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.04	4.04	0.47022	NACHT nucleoside triphosphatase (1);	0.235140	0.30428	N	0.009647	D	0.82976	0.5154	L	0.58669	1.825	0.44117	D	0.996897	D;B;D;P;P	0.69078	0.97;0.168;0.997;0.769;0.659	P;B;D;B;B	0.63793	0.708;0.009;0.918;0.434;0.426	T	0.82884	-0.0236	10	0.49607	T	0.09	.	11.9927	0.53184	0.0:0.0:1.0:0.0	.	282;282;282;282;282	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	N	282	ENSP00000375704:D282N;ENSP00000355453:D282N;ENSP00000337383:D282N;ENSP00000294752:D282N;ENSP00000355452:D282N;ENSP00000375703:D282N	ENSP00000337383:D282N	D	+	1	0	NLRP3	245654212	0.123000	0.22298	0.507000	0.27676	0.040000	0.13550	1.551000	0.36233	2.543000	0.85770	0.563000	0.77884	GAC		0.537	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		A	247587589	G	A	247587589	3	1	326	1	0	0	0	0	1	0	0	0	10478	1058	37	1	854	1	NLRP3	1	247587589	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	76026827	247587589	1663032	6	17423											
ALMS1	7840	genome.wustl.edu	37	2	73680447	73680447	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr2:73680447C>G	ENST00000264448.6	+	8	6901	c.6790C>G	c.(6790-6792)Ctt>Gtt	p.L2264V	ALMS1_ENST00000377715.1_Missense_Mutation_p.L2264V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L2222V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2264					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AATTCGGACACTTTTGATGGA	0.368																																																0			2											62	61	62					2																	73680447		1847	4090	5937	73533955	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6790C>G	2.37:g.73680447C>G	ENSP00000264448:p.Leu2264Val		73533955	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742370	0.69418	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.29917	2.49;2.49;1.55	5.82	5.82	0.92795	.	0.155438	0.30649	N	0.009179	T	0.48978	0.1530	L	0.48642	1.525	0.37443	D	0.914502	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.975;0.975	T	0.53265	-0.8463	10	0.87932	D	0	.	15.5992	0.76611	0.0:1.0:0.0:0.0	.	2264;2222;2264	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	2222;2264;2264	ENSP00000386627:L2222V;ENSP00000264448:L2264V;ENSP00000366944:L2264V	ENSP00000264448:L2264V	L	+	1	0	ALMS1	73533955	0.996000	0.38824	0.910000	0.35882	0.985000	0.73830	4.401000	0.59716	2.752000	0.94435	0.655000	0.94253	CTT		0.368	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73680447	C	G	73680447	3	3	326	1	0	0	0	0	1	0	0	0	535	565	20	3	6820	3	ALMS1	2	73680447	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09		73680447	169518926	7	17424											
LONRF2	164832	genome.wustl.edu	37	2	100916305	100916305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr2:100916305C>A	ENST00000393437.3	-	5	1780	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	LONRF2_ENST00000409647.1_Nonsense_Mutation_p.E138*	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	381							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTATCCTCTTCAAAGTGTAGA	0.413																																																0			2											71	68	69					2																	100916305		2203	4300	6503	100282737	SO:0001587	stop_gained	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1141G>T	2.37:g.100916305C>A	ENSP00000377086:p.Glu381*		100282737	B9A006|Q6ZSR4	Nonsense_Mutation	SNP	ENST00000393437.3	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	43	10.507902	0.99418	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	.	.	.	4.17	2.34	0.29019	.	0.724109	0.13409	N	0.390022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-10.8787	9.7487	0.40462	0.0:0.868:0.0:0.132	.	.	.	.	X	381;138	.	ENSP00000377086:E381X	E	-	1	0	LONRF2	100282737	0.988000	0.35896	0.035000	0.18076	0.709000	0.40893	1.323000	0.33701	0.335000	0.23614	0.555000	0.69702	GAA		0.413	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		A	100916305	C	A	100916305	4	1	326	1	0	0	0	0	0	1	0	0	8895	835	29	3	1155	3	LONRF2	2	100916305	Nonsense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	27235858	100916305	142283068	8	17425											
SH3RF3	344558	genome.wustl.edu	37	2	109964296	109964296	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr2:109964296A>G	ENST00000309415.6	+	2	740	c.740A>G	c.(739-741)tAt>tGt	p.Y247C		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	247	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCAGCCAGCTATATCCAGTGC	0.567																																																0			2											49	57	54					2																	109964296		2130	4235	6365	109330728	SO:0001583	missense	344558			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.740A>G	2.37:g.109964296A>G	ENSP00000309186:p.Tyr247Cys		109330728	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	A	9.754	1.168195	0.21621	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.61980	0.06;0.06	4.97	0.883	0.19177	Src homology-3 domain (3);	.	.	.	.	T	0.50000	0.1590	.	.	.	0.42866	D	0.994127	B	0.17667	0.023	B	0.23419	0.046	T	0.46105	-0.9215	8	0.87932	D	0	.	5.6604	0.17667	0.665:0.0:0.0734:0.2616	.	247	Q8TEJ3	SH3R3_HUMAN	C	247	ENSP00000414997:Y247C;ENSP00000309186:Y247C	ENSP00000309186:Y247C	Y	+	2	0	SH3RF3	109330728	0.755000	0.28372	0.839000	0.33178	0.428000	0.31595	1.582000	0.36568	0.221000	0.20879	0.397000	0.26171	TAT		0.567	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		G	109964296	A	G	109964296	3	3	326	1	0	0	0	0	1	0	0	0	14263	449	16	4	746	4	SH3RF3	2	109964296	Missense_Mutation	SNP	A	TCGA-29-1695-01A-01W-0633-09	9047991	109964296	133235077	9	17426											
KCNH7	90134	genome.wustl.edu	37	2	163236362	163236362	+	Splice_Site	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr2:163236362C>T	ENST00000332142.5	-	14	3231		c.e14+1			NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7						circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACTGCTTATACCTGTTAAGTT	0.468																																					GBM(196;1492 2208 17507 24132 45496)											0			2											145	138	140					2																	163236362		2203	4300	6503	162944608	SO:0001630	splice_region_variant	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3131+1G>A	2.37:g.163236362C>T			162944608	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Splice_Site	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876535	0.91664	.	.	ENSG00000184611	ENST00000332142	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNH7	162944608	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.638000	0.74309	2.835000	0.97688	0.591000	0.81541	.		0.468	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	Intron	T	163236362	C	T	163236362	5	4	326	1	0	0	0	0	0	0	1	0	8037	521	18	2	470	2	KCNH7	2	163236362	Splice_Site	SNP	C	TCGA-29-1695-01A-01W-0633-09	53272066	163236362	79963011	10	17427											
GORASP2	26003	genome.wustl.edu	37	2	171822378	171822378	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr2:171822378C>G	ENST00000234160.4	+	10	1912	c.1097C>G	c.(1096-1098)cCg>cGg	p.P366R	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.P378R	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	366	Pro-rich.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GAGTTCCTCCCGTCATTCCCC	0.592																																																0			2											162	124	137					2																	171822378		2203	4300	6503	171530624	SO:0001583	missense	26003				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"golgi reassembly stacking protein 2, 55 kDa"			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.1097C>G	2.37:g.171822378C>G	ENSP00000234160:p.Pro366Arg		171530624	B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103124	0.76983	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.54279	0.62;0.58	5.85	5.85	0.93711	.	0.105384	0.64402	D	0.000003	T	0.62612	0.2442	M	0.69823	2.125	0.51767	D	0.999939	P;P;P	0.52061	0.915;0.95;0.808	B;P;B	0.47346	0.42;0.544;0.42	T	0.64676	-0.6351	10	0.51188	T	0.08	-4.811	20.1649	0.98147	0.0:1.0:0.0:0.0	.	322;378;366	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	R	366;378	ENSP00000234160:P366R;ENSP00000410208:P378R	ENSP00000234160:P366R	P	+	2	0	GORASP2	171530624	0.998000	0.40836	1.000000	0.80357	0.941000	0.58515	5.114000	0.64648	2.753000	0.94483	0.655000	0.94253	CCG		0.592	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			G	171822378	C	G	171822378	3	3	326	1	0	0	0	0	1	0	0	0	6576	652	23	3	1135	3	GORASP2	2	171822378	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	8586016	171822378	71376995	11	17428											
MFSD6	54842	genome.wustl.edu	37	2	191301994	191301994	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr2:191301994G>C	ENST00000392328.1	+	3	1563	c.1239G>C	c.(1237-1239)agG>agC	p.R413S	MFSD6_ENST00000281416.7_Missense_Mutation_p.R413S	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	413					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGGTGGAAAGGAACAACTCTA	0.512																																																0			2											97	87	91					2																	191301994		2203	4300	6503	191010239	SO:0001583	missense	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1239G>C	2.37:g.191301994G>C	ENSP00000376141:p.Arg413Ser		191010239	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	3.098	-0.185318	0.06340	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.30182	1.54;1.54	5.64	0.542	0.17174	Major facilitator superfamily domain, general substrate transporter (1);	0.391477	0.29972	N	0.010729	T	0.12902	0.0313	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16571	-1.0398	10	0.10902	T	0.67	-14.2002	7.7463	0.28871	0.5896:0.0:0.4104:0.0	.	413	Q6ZSS7	MFSD6_HUMAN	S	413	ENSP00000376141:R413S;ENSP00000281416:R413S	ENSP00000281416:R413S	R	+	3	2	MFSD6	191010239	0.995000	0.38212	0.995000	0.50966	0.797000	0.45037	1.066000	0.30604	0.182000	0.20032	-0.145000	0.13849	AGG		0.512	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			C	191301994	G	C	191301994	3	2	326	1	0	0	0	0	1	0	0	0	9535	1165	41	3	1241	3	MFSD6	2	191301994	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	19479616	191301994	51897379	12	17429											
TM4SF20	79853	genome.wustl.edu	37	2	228235654	228235655	+	Frame_Shift_Del	DEL	CT	CT	-	rs144716300	byFrequency	TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	CT	CT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr2:228235654_228235655delCT	ENST00000304568.3	-	2	262_263	c.225_226delAG	c.(223-228)agagcgfs	p.RA75fs		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TTGCAGCACGCTCTTTTTCTTG	0.421																																																0			2																																								227943899	SO:0001589	frameshift_variant	79853			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.225_226delAG	2.37:g.228235656_228235657delCT	ENSP00000303028:p.Arg75fs		227943898	B2RP42|Q5U609|Q6UWS1|Q9H5X9	Frame_Shift_Del	DEL	ENST00000304568.3	37	CCDS2466.1																																																																																				0.421	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		-	228235655	CT	-	228235654	7	5	326	1	0	1	0	1	0	0	0	0	15969	797	28	0	475	0	TM4SF20	2	228235654	Frame_Shift_Del	DEL	CT	TCGA-29-1695-01A-01W-0633-09	36933660	228235654	14963719	13	17430											
SGEF	26084	genome.wustl.edu	37	3	153840466	153840466	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr3:153840466G>A	ENST00000356448.4	+	2	969	c.685G>A	c.(685-687)Gag>Aag	p.E229K	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E229K|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.E229K	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	229					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CGAGCTCCTCGAGAATCCTTC	0.547																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											0			3											16	18	18					3																	153840466		1850	4085	5935	155323156	SO:0001583	missense	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.685G>A	3.37:g.153840466G>A	ENSP00000348828:p.Glu229Lys		155323156	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961593	0.53400	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.58506	0.33;0.33;2.11	4.65	4.65	0.58169	.	0.300418	0.31134	N	0.008193	T	0.39462	0.1079	L	0.27053	0.805	0.09310	N	0.999992	P;P	0.43352	0.688;0.804	B;B	0.25291	0.059;0.059	T	0.46952	-0.9154	10	0.59425	D	0.04	-18.6125	16.2969	0.82781	0.0:0.0:1.0:0.0	.	229;229	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	K	229	ENSP00000348828:E229K;ENSP00000423418:E229K;ENSP00000423295:E229K	ENSP00000348828:E229K	E	+	1	0	ARHGEF26	155323156	0.984000	0.35163	0.053000	0.19242	0.269000	0.26545	3.893000	0.56243	2.105000	0.64084	0.655000	0.94253	GAG		0.547	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		A	153840466	G	A	153840466	3	1	326	1	0	0	0	0	1	0	0	0	14208	1059	37	1	687	1	SGEF	3	153840466	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09		153840466	44181964	14	17431											
KLHL6	89857	genome.wustl.edu	37	3	183273208	183273208	+	Silent	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr3:183273208C>T	ENST00000341319.3	-	1	269	c.234G>A	c.(232-234)gtG>gtA	p.V78V		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	78	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCTGAATGTCCACACACAAGA	0.502																																																0			3											126	116	119					3																	183273208		2203	4300	6503	184755902	SO:0001819	synonymous_variant	89857			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.234G>A	3.37:g.183273208C>T			184755902	B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	CCDS3245.2																																																																																				0.502	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		T	183273208	C	T	183273208	2	4	326	1	0	0	0	0	0	0	0	1	8393	581	21	2		2	KLHL6	3	183273208	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09	29432742	183273208	14749222	15	17432											
MUC20	200958	genome.wustl.edu	37	3	195453421	195453421	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr3:195453421G>T	ENST00000447234.2	+	2	2073	c.1947G>T	c.(1945-1947)agG>agT	p.R649S	MUC20_ENST00000445522.2_Missense_Mutation_p.R614S|MUC20_ENST00000320736.6_Missense_Mutation_p.R478S|MUC20_ENST00000436408.1_Missense_Mutation_p.R649S	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	649	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCCGGACGAGGCCGACCACAG	0.607																																																0			3											95	101	99					3																	195453421		2084	4207	6291	196939092	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1947G>T	3.37:g.195453421G>T	ENSP00000414350:p.Arg649Ser		196939092	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.233|9.233	1.036278|1.036278	0.19669|0.19669	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000423938|ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	.|T;T;T;T	.|0.17854	.|2.69;2.76;2.85;2.25	4.8|4.8	1.74|1.74	0.24563|0.24563	.|.	.|0.470054	.|0.18482	.|N	.|0.139885	T|T	0.08714|0.08714	0.0216|0.0216	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P	.|0.37101	.|0.582	.|B	.|0.31686	.|0.134	T|T	0.25710|0.25710	-1.0124|-1.0124	5|10	.|0.30078	.|T	.|0.28	-0.1444|-0.1444	7.1248|7.1248	0.25465|0.25465	0.0:0.1699:0.4797:0.3503|0.0:0.1699:0.4797:0.3503	.|.	.|478	.|E9PH32	.|.	S|S	61|460;649;478;649;614	.|ENSP00000414350:R649S;ENSP00000325431:R478S;ENSP00000396774:R649S;ENSP00000405629:R614S	.|ENSP00000325431:R478S	A|R	+|+	1|3	0|2	MUC20|MUC20	196939092|196939092	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.352000|-0.352000	0.07701|0.07701	0.691000|0.691000	0.31592|0.31592	0.655000|0.655000	0.94253|0.94253	GCC|AGG		0.607	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		T	195453421	G	T	195453421	3	4	326	1	0	0	0	0	1	0	0	0	9976	1194	42	3	1444	3	MUC20	3	195453421	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	12180213	195453421	2569009	16	17433											
PPARGC1A	10891	genome.wustl.edu	37	4	23803944	23803944	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr4:23803944C>T	ENST00000264867.2	-	11	2163	c.2044G>A	c.(2044-2046)Ggt>Agt	p.G682S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	682	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTGATTTTACCGACATAAATC	0.517																																					Esophageal Squamous(29;694 744 13796 34866 44181)											0			4											110	106	107					4																	23803944		2203	4300	6503	23413042	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2044G>A	4.37:g.23803944C>T	ENSP00000264867:p.Gly682Ser		23413042	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	c	18.19	3.567943	0.65651	.	.	ENSG00000109819	ENST00000264867	T	0.21031	2.03	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.093133	0.85682	D	0.000000	T	0.50292	0.1607	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51934	-0.8642	10	0.56958	D	0.05	-7.6558	19.0215	0.92917	0.0:1.0:0.0:0.0	.	682	Q9UBK2	PRGC1_HUMAN	S	682	ENSP00000264867:G682S	ENSP00000264867:G682S	G	-	1	0	PPARGC1A	23413042	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.737000	0.68606	2.582000	0.87167	0.457000	0.33378	GGT		0.517	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		T	23803944	C	T	23803944	3	4	326	1	0	0	0	0	1	0	0	0	12300	652	23	1	364	1	PPARGC1A	4	23803944	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09		23803944	167350332	17	17434											
PDGFRA	5156	genome.wustl.edu	37	4	55155051	55155051	+	Silent	SNP	C	C	T	rs368291181		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr4:55155051C>T	ENST00000257290.5	+	20	3091	c.2760C>T	c.(2758-2760)caC>caT	p.H920H	FIP1L1_ENST00000507166.1_Silent_p.H680H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	920	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGCCTGACCACGCTACCAGTG	0.577			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	0			4						C		0,4406		0,0,2203	87	80	82		2760	-12.1	0.2	4		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDGFRA	NM_006206.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		920/1090	55155051	1,13005	2203	4300	6503	54849808	SO:0001819	synonymous_variant	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2760C>T	4.37:g.55155051C>T			54849808	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.577	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		T	55155051	C	T	55155051	2	4	326	1	0	0	0	0	0	0	0	1	11661	535	19	1		1	PDGFRA	4	55155051	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09	31351107	55155051	135999225	18	17435											
NPFFR2	10886	genome.wustl.edu	37	4	72994449	72994449	+	Silent	SNP	C	C	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr4:72994449C>A	ENST00000308744.6	+	2	545	c.447C>A	c.(445-447)atC>atA	p.I149I	NPFFR2_ENST00000395999.1_Silent_p.I50I|NPFFR2_ENST00000358749.3_Silent_p.I47I|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	149					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGGCAGCAATCTTCATTATTT	0.368																																																0			4											212	185	194					4																	72994449		2203	4300	6503	73213313	SO:0001819	synonymous_variant	10886			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.447C>A	4.37:g.72994449C>A			73213313	Q96RV1|Q9NR49	Silent	SNP	ENST00000308744.6	37	CCDS3551.1																																																																																				0.368	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		A	72994449	C	A	72994449	2	1	326	1	0	0	0	0	0	0	0	1	10578	903	32	3		3	NPFFR2	4	72994449	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09	17839398	72994449	118159827	19	17436											
HNRNPD	3184	genome.wustl.edu	37	4	83278046	83278046	+	Silent	SNP	A	A	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr4:83278046A>G	ENST00000313899.7	-	6	1033	c.756T>C	c.(754-756)tgT>tgC	p.C252C	HNRNPD_ENST00000353341.4_Silent_p.C252C|HNRNPD_ENST00000352301.4_Silent_p.C233C|HNRNPD_ENST00000508119.1_5'UTR|HNRNPD_ENST00000541060.1_Silent_p.C98C|HNRNPD_ENST00000543098.1_Silent_p.C200C	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	252	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CTTTTATTTCACACTAAAAGA	0.358																																																0			4											161	174	170					4																	83278046		2203	4300	6503	83497070	SO:0001819	synonymous_variant	3184			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"RNA binding motif (RRM) containing"	5036	protein-coding gene	gene with protein product		601324	"heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.756T>C	4.37:g.83278046A>G			83497070	A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Silent	SNP	ENST00000313899.7	37	CCDS3592.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906761	0.33628	.	.	ENSG00000138668	ENST00000514671	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.327	0.74172	1.0:0.0:0.0:0.0	.	.	.	.	R	156	.	.	X	-	1	0	HNRNPD	83497070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.985000	0.70556	2.016000	0.59253	0.533000	0.62120	TGA		0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		G	83278046	A	G	83278046	2	3	326	1	0	0	0	0	0	0	0	1	7264	157	6	4		4	HNRNPD	4	83278046	Silent	SNP	A	TCGA-29-1695-01A-01W-0633-09	10283597	83278046	107876230	20	17437											
ALPK1	80216	genome.wustl.edu	37	4	113351618	113351618	+	Silent	SNP	G	G	A	rs199945458		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr4:113351618G>A	ENST00000458497.1	+	11	1194	c.915G>A	c.(913-915)acG>acA	p.T305T	ALPK1_ENST00000504176.2_Silent_p.T227T|ALPK1_ENST00000177648.9_Silent_p.T305T	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	305							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T305T(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCCGTGGCACGTGTTTATTGT	0.398													G|||	1	0.000199681	0	0	5008	,	,		21045	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	endometrium(1)	4											66	68	67					4																	113351618		2203	4300	6503	113571067	SO:0001819	synonymous_variant	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.915G>A	4.37:g.113351618G>A			113571067	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	CCDS3697.1																																																																																				0.398	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		A	113351618	G	A	113351618	2	1	326	1	0	0	0	0	0	0	0	1	544	1132	40	1		1	ALPK1	4	113351618	Silent	SNP	G	TCGA-29-1695-01A-01W-0633-09	30073572	113351618	77802658	21	17438											
LRBA	987	genome.wustl.edu	37	4	151509212	151509212	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr4:151509212T>G	ENST00000357115.3	-	41	6594	c.6351A>C	c.(6349-6351)aaA>aaC	p.K2117N	LRBA_ENST00000507224.1_Missense_Mutation_p.K2106N|LRBA_ENST00000510413.1_Missense_Mutation_p.K2106N|LRBA_ENST00000535741.1_Missense_Mutation_p.K2106N	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2117						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGGGTCGATTTTTTTGAAGT	0.458																																																0			4											149	163	158					4																	151509212		2203	4299	6502	151728662	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6351A>C	4.37:g.151509212T>G	ENSP00000349629:p.Lys2117Asn		151728662	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.62|10.62	1.401185|1.401185	0.25291|0.25291	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|T	0.58210|0.49432	0.79;0.93;0.79;0.35|0.78	6.03|6.03	2.06|2.06	0.26882|0.26882	PH-BEACH domain (1);|.	0.372505|0.372505	0.31188|0.31188	N|N	0.008090|0.008090	T|T	0.45677|0.45677	0.1354|0.1354	L|L	0.46670|0.46670	1.46|1.46	0.54753|0.54753	D|D	0.999986|0.999986	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.33599|0.33599	-0.9862|-0.9862	10|8	0.39692|0.51188	T|T	0.17|0.08	.|.	6.6653|6.6653	0.23037|0.23037	0.2391:0.0647:0.0:0.6963|0.2391:0.0647:0.0:0.6963	.|.	2117;2106|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	N|T	2106;2106;2117;2106|759	ENSP00000446299:K2106N;ENSP00000421552:K2106N;ENSP00000349629:K2117N;ENSP00000422180:K2106N|ENSP00000426669:K759T	ENSP00000349629:K2117N|ENSP00000426669:K759T	K|K	-|-	3|2	2|0	LRBA|LRBA	151728662|151728662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.988000|0.988000	0.29616|0.29616	0.502000|0.502000	0.28037|0.28037	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.458	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			G	151509212	T	G	151509212	3	3	326	1	0	0	0	0	1	0	0	0	8931	1838	64	5	2312	5	LRBA	4	151509212	Missense_Mutation	SNP	T	TCGA-29-1695-01A-01W-0633-09	38157594	151509212	39645064	22	17439											
TRIM60	166655	genome.wustl.edu	37	4	165962417	165962417	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr4:165962417C>T	ENST00000512596.1	+	3	1409	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V	TRIM60_ENST00000508504.1_Missense_Mutation_p.A398V|TRIM60_ENST00000341062.5_Missense_Mutation_p.A398V	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGTTATGTTGCGTCAGGTCCT	0.443																																																0			4											120	123	122					4																	165962417		2203	4300	6503	166181867	SO:0001583	missense	166655			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1193C>T	4.37:g.165962417C>T	ENSP00000421142:p.Ala398Val		166181867	Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	C	7.933	0.741104	0.15642	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.61158	0.13;0.13;0.13	2.69	-4.63	0.03359	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.350227	0.17940	N	0.156862	T	0.37598	0.1009	N	0.25286	0.73	0.09310	N	1	B	0.22480	0.07	B	0.29077	0.098	T	0.17349	-1.0372	10	0.28530	T	0.3	.	10.3675	0.44033	0.0:0.2347:0.0:0.7653	.	398	Q495X7	TRI60_HUMAN	V	398	ENSP00000421142:A398V;ENSP00000426496:A398V;ENSP00000343765:A398V	ENSP00000343765:A398V	A	+	2	0	TRIM60	166181867	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.516000	0.02250	-1.545000	0.01719	-0.812000	0.03155	GCG		0.443	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		T	165962417	C	T	165962417	3	4	326	1	0	0	0	0	1	0	0	0	16535	768	27	1	1195	1	TRIM60	4	165962417	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	14453205	165962417	25191859	23	17440											
FASTKD3	79072	genome.wustl.edu	37	5	7867620	7867623	+	Frame_Shift_Del	DEL	GAGG	GAGG	-			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	GAGG	GAGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr5:7867620_7867623delGAGG	ENST00000264669.5	-	2	710_713	c.574_577delCCTC	c.(574-579)cctcaafs	p.PQ192fs	MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	192					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGGCTACTTTGAGGATCCACATGC	0.441																																																0			5																																								7920623	SO:0001589	frameshift_variant	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.574_577delCCTC	5.37:g.7867620_7867623delGAGG	ENSP00000264669:p.Pro192fs		7920620	Q9BVD3	Frame_Shift_Del	DEL	ENST00000264669.5	37	CCDS3873.1																																																																																				0.441	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		-	7867623	GAGG	-	7867620	7	5	326	1	0	1	0	1	0	0	0	0	5687	1299	45	0	1435	0	FASTKD3	5	7867620	Frame_Shift_Del	DEL	GAGG	TCGA-29-1695-01A-01W-0633-09		7867620	173047640	24	17441											
PKD2L2	27039	genome.wustl.edu	37	5	137226195	137226195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr5:137226195C>A	ENST00000508883.1	+	2	83	c.57C>A	c.(55-57)taC>taA	p.Y19*	PKD2L2_ENST00000290431.5_Nonsense_Mutation_p.Y19*|RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA|PKD2L2_ENST00000350250.4_Intron|PKD2L2_ENST00000502810.1_Nonsense_Mutation_p.Y19*|PKD2L2_ENST00000508638.1_Nonsense_Mutation_p.Y19*			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	19					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGTTGCATTACAGAAAGGAAG	0.294																																																0			5											94	94	94					5																	137226195		1803	4069	5872	137254094	SO:0001587	stop_gained	27039			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.57C>A	5.37:g.137226195C>A	ENSP00000424725:p.Tyr19*		137254094	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Nonsense_Mutation	SNP	ENST00000508883.1	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.069900	0.76301	.	.	ENSG00000078795	ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	.	.	.	5.8	4.75	0.60458	.	0.113920	0.39615	N	0.001320	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3673	14.6851	0.69044	0.0:0.9163:0.0:0.0837	.	.	.	.	X	19	.	ENSP00000290431:Y19X	Y	+	3	2	PKD2L2	137254094	1.000000	0.71417	0.987000	0.45799	0.823000	0.46562	2.208000	0.42797	2.747000	0.94245	0.460000	0.39030	TAC		0.294	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		A	137226195	C	A	137226195	4	1	326	1	0	0	0	0	0	1	0	0	11968	489	17	3	63	3	PKD2L2	5	137226195	Nonsense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	129358575	137226195	43689065	25	17442											
CFB	629	genome.wustl.edu	37	6	31919723	31919723	+	Silent	SNP	C	C	T	rs537918200		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr6:31919723C>T	ENST00000425368.2	+	18	2724	c.2211C>T	c.(2209-2211)caC>caT	p.H737H	CFB_ENST00000456570.1_Silent_p.H1239H|CFB_ENST00000477310.1_Silent_p.H1088H|CFB_ENST00000556679.1_Silent_p.H1239H	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	737	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TACCTGCTCACGCCCGAGACT	0.517													C|||	1	0.000199681	0	0	5008	,	,		20377	0		0	False		,,,				2504	0.001															0			6											236	251	246					6																	31919723		1511	2709	4220	32027702	SO:0001819	synonymous_variant	629			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.2211C>T	6.37:g.31919723C>T			32027702	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	5.992	0.366968	0.11352	.	.	ENSG00000243649	ENST00000483004	.	.	.	5.54	-11.1	0.00147	.	.	.	.	.	T	0.52240	0.1722	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74203	-0.3741	4	.	.	.	-6.2326	20.2611	0.98445	0.0:0.7005:0.0:0.2995	.	.	.	.	M	278	.	.	T	+	2	0	CFB	32027702	0.000000	0.05858	0.003000	0.11579	0.993000	0.82548	-3.396000	0.00485	-2.362000	0.00609	-0.302000	0.09304	ACG		0.517	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		T	31919723	C	T	31919723	2	4	326	1	0	0	0	0	0	0	0	1	3278	535	19	1		1	CFB	6	31919723	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09		31919723	139195344	26	17443											
TFAP2D	83741	genome.wustl.edu	37	6	50740417	50740417	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr6:50740417C>G	ENST00000008391.3	+	8	1427	c.1199C>G	c.(1198-1200)aCa>aGa	p.T400R		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.T400K(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACTTTCCAAACAGTTCTCAGT	0.458																																																1	Substitution - Missense(1)	lung(1)	6											66	64	65					6																	50740417		2203	4300	6503	50848376	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1199C>G	6.37:g.50740417C>G	ENSP00000008391:p.Thr400Arg		50848376		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371674	0.61624	.	.	ENSG00000008197	ENST00000008391	D	0.96774	-4.12	5.46	5.46	0.80206	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	N	0.08118	0	0.80722	D	1	B	0.30146	0.27	B	0.34346	0.18	D	0.89379	0.3680	10	0.87932	D	0	-21.0128	19.3034	0.94151	0.0:1.0:0.0:0.0	.	400	Q7Z6R9	AP2D_HUMAN	R	400	ENSP00000008391:T400R	ENSP00000008391:T400R	T	+	2	0	TFAP2D	50848376	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.577000	0.86979	0.467000	0.42956	ACA		0.458	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		G	50740417	C	G	50740417	3	3	326	1	0	0	0	0	1	0	0	0	15790	478	17	3	1229	3	TFAP2D	6	50740417	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	18820694	50740417	120374650	27	17444											
STK31	56164	genome.wustl.edu	37	7	23854788	23854788	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr7:23854788A>G	ENST00000355870.3	+	23	2905	c.2786A>G	c.(2785-2787)gAg>gGg	p.E929G	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Intron|STK31_ENST00000354639.3_Missense_Mutation_p.E906G|STK31_ENST00000428484.1_Missense_Mutation_p.E906G	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	929	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGGAGTTTGAGATAAATAAA	0.338																																																0			7											107	107	107					7																	23854788		2203	4300	6503	23821313	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2786A>G	7.37:g.23854788A>G	ENSP00000348132:p.Glu929Gly		23821313	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798791	0.31777	.	.	ENSG00000196335	ENST00000355870;ENST00000354639;ENST00000428484	T;T;T	0.66638	-0.22;-0.22;-0.22	4.49	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.313274	0.27567	N	0.018798	T	0.52565	0.1742	L	0.33245	0.995	0.25064	N	0.991044	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.38866	-0.9641	10	0.30078	T	0.28	-5.5619	10.3844	0.44132	1.0:0.0:0.0:0.0	.	929;929	A4D159;Q9BXU1	.;STK31_HUMAN	G	929;906;906	ENSP00000348132:E929G;ENSP00000346660:E906G;ENSP00000406146:E906G	ENSP00000346660:E906G	E	+	2	0	STK31	23821313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.468000	0.45102	2.023000	0.59567	0.392000	0.25879	GAG		0.338	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23854788	A	G	23854788	3	3	326	1	0	0	0	0	1	0	0	0	15298	304	11	4	2876	4	STK31	7	23854788	Missense_Mutation	SNP	A	TCGA-29-1695-01A-01W-0633-09		23854788	135283875	28	17445											
POT1	25913	genome.wustl.edu	37	7	124532428	124532428	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr7:124532428C>T	ENST00000357628.3	-	6	614	c.16G>A	c.(16-18)Gca>Aca	p.A6T	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	6					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TAATTTGTTGCTGGAACCTAA	0.323																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											0			7											85	93	91					7																	124532428		2203	4300	6503	124319664	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.16G>A	7.37:g.124532428C>T	ENSP00000350249:p.Ala6Thr		124319664	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	8.731	0.916655	0.17907	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391;ENST00000446993	T	0.48836	0.8	5.7	0.589	0.17452	Nucleic acid-binding, OB-fold (1);	0.878626	0.10012	N	0.727026	T	0.22126	0.0533	N	0.11560	0.145	0.22096	N	0.999364	B	0.02656	0.0	B	0.04013	0.001	T	0.24584	-1.0156	10	0.13108	T	0.6	-9.1514	3.9913	0.09538	0.2538:0.4498:0.0:0.2964	.	6	Q9NUX5	POTE1_HUMAN	T	6;6;6;6;5;6	ENSP00000350249:A6T	ENSP00000265391:A5T	A	-	1	0	POT1	124319664	0.027000	0.19231	0.961000	0.40146	0.917000	0.54804	-0.402000	0.07223	0.045000	0.15804	-0.252000	0.11476	GCA		0.323	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			T	124532428	C	T	124532428	3	4	326	1	0	0	0	0	1	0	0	0	12260	797	28	2	1944	2	POT1	7	124532428	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	100677640	124532428	34606235	29	17446											
GRM8	2918	genome.wustl.edu	37	7	126173080	126173080	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr7:126173080T>G	ENST00000339582.2	-	9	3164	c.2356A>C	c.(2356-2358)Acc>Ccc	p.T786P	GRM8_ENST00000480995.1_5'Flank|GRM8_ENST00000444921.2_Missense_Mutation_p.T786P|GRM8_ENST00000358373.3_Missense_Mutation_p.T786P			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	786					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)	p.T786A(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTATACATGGTAAATCCAATA	0.408										HNSCC(24;0.065)																																						1	Substitution - Missense(1)	endometrium(1)	7											140	122	128					7																	126173080		2203	4300	6503	125960316	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2356A>C	7.37:g.126173080T>G	ENSP00000344173:p.Thr786Pro		125960316	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914572	0.72983	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89746	-2.56;-2.56;-2.56	5.62	5.62	0.85841	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.986	D	0.96171	0.9123	10	0.87932	D	0	.	15.0201	0.71624	0.0:0.0:0.0:1.0	.	786;786	O00222-2;O00222	.;GRM8_HUMAN	P	786	ENSP00000344173:T786P;ENSP00000409790:T786P;ENSP00000351142:T786P	ENSP00000344173:T786P	T	-	1	0	GRM8	125960316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.150000	0.67090	0.533000	0.62120	ACC		0.408	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			G	126173080	T	G	126173080	3	3	326	1	0	0	0	0	1	0	0	0	6803	1638	57	5	432	5	GRM8	7	126173080	Missense_Mutation	SNP	T	TCGA-29-1695-01A-01W-0633-09	1640652	126173080	32965583	30	17447											
TMEM213	155006	genome.wustl.edu	37	7	138486136	138486136	+	Frame_Shift_Del	DEL	G	G	-	rs201901802		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr7:138486136delG	ENST00000442682.2	+	2	300	c.147delG	c.(145-147)cagfs	p.Q49fs	TMEM213_ENST00000397602.3_Frame_Shift_Del_p.Q48fs|TMEM213_ENST00000413208.1_Frame_Shift_Del_p.Q49fs|TMEM213_ENST00000422794.2_Frame_Shift_Del_p.Q99fs|TMEM213_ENST00000458494.1_Intron	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	49						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CCCTGGAGCAGTGCCTCAGTA	0.567																																																0			7											38	44	42					7																	138486136		1975	4137	6112	138136676	SO:0001589	frameshift_variant	155006				CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.147delG	7.37:g.138486136delG	ENSP00000390407:p.Gln49fs		138136676	A4D1R3|C9JH49|C9JX41|C9K0P0	Frame_Shift_Del	DEL	ENST00000442682.2	37	CCDS47722.1																																																																																				0.567	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347800.2	NM_001085429		-	138486136	G	-	138486136	7	5	326	1	0	1	0	1	0	0	0	0	16136	1020	36	0	153	0	TMEM213	7	138486136	Frame_Shift_Del	DEL	G	TCGA-29-1695-01A-01W-0633-09	12313056	138486136	20652527	31	17448											
NOBOX	135935	genome.wustl.edu	37	7	144096938	144096938	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr7:144096938G>A	ENST00000467773.1	-	6	1065	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	NOBOX_ENST00000223140.5_Missense_Mutation_p.R239W|NOBOX_ENST00000483238.1_Missense_Mutation_p.R324W	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	356					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACTTGGCCCGGCGATTCTGG	0.537																																																0			7											74	78	76					7																	144096938		1954	4148	6102	143727871	SO:0001583	missense	135935					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1066C>T	7.37:g.144096938G>A	ENSP00000419457:p.Arg356Trp		143727871	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	G	19.04	3.750459	0.69533	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.99311	-5.51;-5.73;-5.51	5.55	-2.34	0.06704	Homeodomain-related (1);Homeobox (2);	0.324668	0.29987	N	0.010695	D	0.99196	0.9721	M	0.86864	2.845	0.30934	N	0.726558	D	0.89917	1.0	D	0.97110	1.0	D	0.98771	1.0728	10	0.87932	D	0	-35.0972	9.9442	0.41598	0.0752:0.0:0.3185:0.6062	.	356	O60393	NOBOX_HUMAN	W	324;356;239;113	ENSP00000419565:R324W;ENSP00000419457:R356W;ENSP00000223140:R239W	ENSP00000223140:R239W	R	-	1	2	NOBOX	143727871	0.836000	0.29430	0.949000	0.38748	0.994000	0.84299	-0.133000	0.10451	-0.261000	0.09405	0.650000	0.86243	CGG		0.537	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		A	144096938	G	A	144096938	3	1	326	1	0	0	0	0	1	0	0	0	10512	1115	39	1	1029	1	NOBOX	7	144096938	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	5610802	144096938	15041725	32	17449											
ABCF2	10061	genome.wustl.edu	37	7	150911146	150911146	+	Silent	SNP	G	G	A	rs142050158		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr7:150911146G>A	ENST00000287844.2	-	15	1975	c.1866C>T	c.(1864-1866)aaC>aaT	p.N622N	ABCF2_ENST00000222388.2_Silent_p.N622N	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	622					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCTCACACGTTGTGGGTCC	0.587																																																0			7											81	68	73					7																	150911146		2203	4300	6503	150542079	SO:0001819	synonymous_variant	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1866C>T	7.37:g.150911146G>A			150542079	O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	CCDS5923.1																																																																																				0.587	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		A	150911146	G	A	150911146	2	1	326	1	0	0	0	0	0	0	0	1	66	1136	40	1		1	ABCF2	7	150911146	Silent	SNP	G	TCGA-29-1695-01A-01W-0633-09	6814208	150911146	8227517	33	17450											
TG	7038	genome.wustl.edu	37	8	134024174	134024174	+	Silent	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr8:134024174C>T	ENST00000220616.4	+	36	6331	c.6291C>T	c.(6289-6291)gcC>gcT	p.A2097A	TG_ENST00000519543.1_Silent_p.A230A|TG_ENST00000542445.1_Silent_p.A467A|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Silent_p.A2040A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2097					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTCCCTGGCCCTCTCTTCAG	0.522																																																0			8											339	300	313					8																	134024174		2203	4300	6503	134093356	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6291C>T	8.37:g.134024174C>T			134093356	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	0.202	-1.043668	0.01997	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.58	1.77	0.24775	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	T	0.22730	-1.0208	4	.	.	.	.	4.5714	0.12212	0.1525:0.5995:0.0:0.248	.	.	.	.	S	553	.	.	P	+	1	0	TG	134093356	0.001000	0.12720	0.136000	0.22124	0.016000	0.09150	0.186000	0.16978	0.046000	0.15833	0.563000	0.77884	CCT		0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134024174	C	T	134024174	2	4	326	1	0	0	0	0	0	0	0	1	15813	610	22	2		2	TG	8	134024174	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09		134024174	12339848	34	17451											
CYP11B2	1585	genome.wustl.edu	37	8	143999035	143999035	+	Silent	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr8:143999035C>T	ENST00000323110.2	-	1	224	c.222G>A	c.(220-222)gaG>gaA	p.E74E		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	74					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TGGGCCCCAGCTCCTGGAAGG	0.642									Familial Hyperaldosteronism type I																																							0			8											74	69	71					8																	143999035		2203	4300	6503	143996037	SO:0001819	synonymous_variant	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.222G>A	8.37:g.143999035C>T			143996037	B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	CCDS6393.1																																																																																				0.642	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			T	143999035	C	T	143999035	2	4	326	1	0	0	0	0	0	0	0	1	4146	796	28	2		2	CYP11B2	8	143999035	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09	9974861	143999035	2364987	35	17452											
TRDMT1	1787	genome.wustl.edu	37	10	17199454	17199454	+	Silent	SNP	C	C	A	rs542664811		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr10:17199454C>A	ENST00000377799.3	-	8	920	c.873G>T	c.(871-873)gtG>gtT	p.V291V	TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Silent_p.V267V|TRDMT1_ENST00000457442.2_Silent_p.V210V|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000488990.1_Silent_p.V168V|TRDMT1_ENST00000351358.4_Silent_p.V245V	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	291	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TGGTAAAGCACACGGACCTTC	0.373																																																0			10											92	91	91					10																	17199454		2203	4300	6503	17239460	SO:0001819	synonymous_variant	1787			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.873G>T	10.37:g.17199454C>A			17239460	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Silent	SNP	ENST00000377799.3	37	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	0.204	-1.042608	0.01997	.	.	ENSG00000107614	ENST00000313936	T	0.62364	0.03	5.03	-5.34	0.02705	.	0.626673	0.18364	N	0.143474	T	0.50616	0.1626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45279	-0.9272	7	0.22109	T	0.4	4.3366	8.1386	0.31069	0.1858:0.2342:0.0:0.58	.	.	.	.	L	225	ENSP00000324263:V225L	ENSP00000324263:V225L	V	-	1	0	TRDMT1	17239460	0.000000	0.05858	0.006000	0.13384	0.285000	0.27093	-3.203000	0.00559	-1.481000	0.01863	-0.142000	0.14014	GTG		0.373	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		A	17199454	C	A	17199454	2	1	326	1	0	0	0	0	0	0	0	1	16467	465	17	3		3	TRDMT1	10	17199454	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09		17199454	118335293	36	17453											
CSTF2T	23283	genome.wustl.edu	37	10	53458636	53458636	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr10:53458636G>C	ENST00000331173.4	-	1	719	c.674C>G	c.(673-675)cCt>cGt	p.P225R	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	225					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CAGAACATTAGGTCCTGGGCA	0.557																																																0			10											39	41	40					10																	53458636		2203	4300	6503	53128642	SO:0001583	missense	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.674C>G	10.37:g.53458636G>C	ENSP00000332444:p.Pro225Arg		53128642	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360157	0.61403	.	.	ENSG00000177613	ENST00000331173	T	0.28069	1.63	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.53249	1.67	0.80722	D	1	D	0.58620	0.983	P	0.54924	0.764	T	0.29701	-1.0003	10	0.49607	T	0.09	-1.9305	15.2882	0.73846	0.0:0.0:1.0:0.0	.	225	Q9H0L4	CSTFT_HUMAN	R	225	ENSP00000332444:P225R	ENSP00000332444:P225R	P	-	2	0	CSTF2T	53128642	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.786000	0.69006	2.551000	0.86045	0.655000	0.94253	CCT		0.557	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		C	53458636	G	C	53458636	3	2	326	1	0	0	0	0	1	0	0	0	3985	1000	35	3	1180	3	CSTF2T	10	53458636	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	36259182	53458636	82076111	37	17454											
RHOBTB1	9886	genome.wustl.edu	37	10	62634789	62634789	+	Missense_Mutation	SNP	C	C	T	rs201889243		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr10:62634789C>T	ENST00000337910.5	-	9	2075	c.1738G>A	c.(1738-1740)Gtt>Att	p.V580I	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.V580I|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	580					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AACTCCTGAACGGCATGCTGT	0.542																																																0			10						C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	83	80	81		1738,1738	5.7	0.4	10		81	0,8600		0,0,4300	no	missense,missense	RHOBTB1	NM_001242359.1,NM_014836.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	580/697,580/697	62634789	1,13005	2203	4300	6503	62304795	SO:0001583	missense	9886			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1738G>A	10.37:g.62634789C>T	ENSP00000338671:p.Val580Ile		62304795		Missense_Mutation	SNP	ENST00000337910.5	37	CCDS7261.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.41	2.527634	0.44969	2.27E-4	0.0	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.66815	-0.23;-0.23	5.66	5.66	0.87406	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (1);	0.000000	0.64402	D	0.000004	T	0.64713	0.2623	L	0.34521	1.04	0.80722	D	1	D	0.56287	0.975	P	0.50970	0.655	T	0.58086	-0.7698	10	0.08381	T	0.77	.	19.7525	0.96273	0.0:1.0:0.0:0.0	.	580	O94844	RHBT1_HUMAN	I	580	ENSP00000350595:V580I;ENSP00000338671:V580I	ENSP00000338671:V580I	V	-	1	0	RHOBTB1	62304795	1.000000	0.71417	0.427000	0.26684	0.116000	0.19942	7.425000	0.80255	2.666000	0.90696	0.563000	0.77884	GTT		0.542	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			T	62634789	C	T	62634789	3	4	326	1	0	0	0	0	1	0	0	0	13336	536	19	1	364	1	RHOBTB1	10	62634789	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	9176153	62634789	72899958	38	17455											
ZMIZ1	57178	genome.wustl.edu	37	10	81053247	81053247	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr10:81053247C>T	ENST00000334512.5	+	12	1639	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	356	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCTGGCATGACGCCCTCGGGG	0.701																																																0			10											31	41	38					10																	81053247		2195	4284	6479	80723253	SO:0001583	missense	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1067C>T	10.37:g.81053247C>T	ENSP00000334474:p.Thr356Met		80723253	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929569	0.73327	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.31247	1.5	4.91	4.91	0.64330	.	0.000000	0.39544	U	0.001336	T	0.32041	0.0816	N	0.14661	0.345	0.80722	D	1	D;D	0.64830	0.994;0.965	P;P	0.54499	0.754;0.513	T	0.11817	-1.0572	10	0.34782	T	0.22	-9.9472	18.0871	0.89461	0.0:1.0:0.0:0.0	.	272;356	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	M	356;286;263	ENSP00000334474:T356M	ENSP00000334474:T356M	T	+	2	0	ZMIZ1	80723253	1.000000	0.71417	0.991000	0.47740	0.857000	0.48899	4.729000	0.62008	2.273000	0.75805	0.313000	0.20887	ACG		0.701	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		T	81053247	C	T	81053247	3	4	326	1	0	0	0	0	1	0	0	0	17696	536	19	1	1097	1	ZMIZ1	10	81053247	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	18418458	81053247	54481500	39	17456											
JAKMIP3	282973	genome.wustl.edu	37	10	133930919	133930919	+	Silent	SNP	C	C	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr10:133930919C>A	ENST00000298622.4	+	2	612	c.474C>A	c.(472-474)atC>atA	p.I158I		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	158						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCAGGAGATCTCCGAGCTCA	0.617																																																0			10											76	91	86					10																	133930919		2171	4260	6431	133780909	SO:0001819	synonymous_variant	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.474C>A	10.37:g.133930919C>A			133780909	A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	CCDS44494.1																																																																																				0.617	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		A	133930919	C	A	133930919	2	1	326	1	0	0	0	0	0	0	0	1	7942	903	32	3		3	JAKMIP3	10	133930919	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09	52877672	133930919	1603828	40	17457											
EHF	26298	genome.wustl.edu	37	11	34668214	34668222	+	In_Frame_Del	DEL	AGCATCTGA	AGCATCTGA	-	rs144427844		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	AGCATCTGA	AGCATCTGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr11:34668214_34668222delAGCATCTGA	ENST00000533754.1	+	3	543_551	c.326_334delAGCATCTGA	c.(325-336)cagcatctgaag>cag	p.HLK110del	EHF_ENST00000530286.1_In_Frame_Del_p.HLK110del|EHF_ENST00000450654.2_In_Frame_Del_p.HLK110del|EHF_ENST00000257831.3_In_Frame_Del_p.HLK110del|EHF_ENST00000531728.1_In_Frame_Del_p.HLK110del|EHF_ENST00000527935.1_In_Frame_Del_p.HLK110del|EHF_ENST00000531794.1_In_Frame_Del_p.HLK132del					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AGCAACTTGCAGCATCTGAAGTGGAACGG	0.555																																																0			11																																								34624798	SO:0001651	inframe_deletion	26298			AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.326_334delAGCATCTGA	11.37:g.34668214_34668222delAGCATCTGA	ENSP00000435837:p.His110_Lys112del		34624790		In_Frame_Del	DEL	ENST00000533754.1	37	CCDS7894.1																																																																																				0.555	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		-	34668222	AGCATCTGA	-	34668214	7	5	326	1	0	1	0	1	0	0	0	0	4981	188	7	0	332	0	EHF	11	34668214	In_Frame_Del	DEL	AGCATCTGA	TCGA-29-1695-01A-01W-0633-09		34668214	100338302	41	17458											
OR4X1	390113	genome.wustl.edu	37	11	48285770	48285770	+	Missense_Mutation	SNP	C	C	T	rs79872488	byFrequency	TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr11:48285770C>T	ENST00000320048.1	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGCCTATGACCGCTATGTGGC	0.547													C|||	19	0.00379393	0	0.0086	5008	,	,		21393	0		0.0129	False		,,,				2504	0															0			11						C	CYS/ARG	10,4392	17.9+/-39.9	1,8,2192	81	75	77		358	1.4	1	11	dbSNP_131	77	73,8523	43.6+/-101.6	0,73,4225	yes	missense	OR4X1	NM_001004726.1	180	1,81,6417	TT,TC,CC		0.8492,0.2272,0.6386	probably-damaging	120/306	48285770	83,12915	2201	4298	6499	48242346	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.358C>T	11.37:g.48285770C>T	ENSP00000321506:p.Arg120Cys		48242346	Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	13	0.005952380952380952	0	0.0	3	0.008287292817679558	0	0.0	10	0.013192612137203167	C	10.10	1.256815	0.22965	0.002272	0.008492	ENSG00000176567	ENST00000320048	T	0.77358	-1.09	4.26	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.81833	0.4906	M	0.86740	2.835	0.34850	D	0.741566	D	0.89917	1.0	D	0.72338	0.977	T	0.82930	-0.0213	9	0.72032	D	0.01	.	3.8036	0.08768	0.1681:0.558:0.0:0.274	.	120	Q8NH49	OR4X1_HUMAN	C	120	ENSP00000321506:R120C	ENSP00000321506:R120C	R	+	1	0	OR4X1	48242346	1.000000	0.71417	0.999000	0.59377	0.007000	0.05969	2.354000	0.44098	0.196000	0.20367	-1.989000	0.00450	CGC		0.547	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		T	48285770	C	T	48285770	3	4	326	1	0	0	0	0	1	0	0	0	11084	652	23	1	360	1	OR4X1	11	48285770	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	13617556	48285770	86720746	42	17459											
OR8H1	219469	genome.wustl.edu	37	11	56058495	56058495	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr11:56058495G>A	ENST00000313022.2	-	1	71	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T15M(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGACAGTCCCGTAAGGATGAA	0.383																																																1	Substitution - Missense(1)	large_intestine(1)	11											106	102	104					11																	56058495		2201	4296	6497	55815071	SO:0001583	missense	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.44C>T	11.37:g.56058495G>A	ENSP00000323595:p.Thr15Met		55815071	B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.305499	0.01353	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00421	7.46	3.77	-0.664	0.11406	.	0.935374	0.09043	N	0.856952	T	0.00144	0.0004	N	0.01431	-0.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22906	-1.0203	10	0.33141	T	0.24	.	1.6337	0.02737	0.5533:0.1417:0.1679:0.137	.	15	Q8NGG4	OR8H1_HUMAN	M	15;11	ENSP00000323595:T15M	ENSP00000323595:T15M	T	-	2	0	OR8H1	55815071	0.000000	0.05858	0.018000	0.16275	0.001000	0.01503	-0.185000	0.09684	-0.168000	0.10853	-0.455000	0.05494	ACG		0.383	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		A	56058495	G	A	56058495	3	1	326	1	0	0	0	0	1	0	0	0	11237	1145	40	1	893	1	OR8H1	11	56058495	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	7772725	56058495	78948021	43	17460											
ETNK1	55500	genome.wustl.edu	37	12	22796710	22796710	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr12:22796710G>C	ENST00000266517.4	+	2	526	c.437G>C	c.(436-438)gGa>gCa	p.G146A	ETNK1_ENST00000335148.3_Missense_Mutation_p.G146A	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	146					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCACAGATGGAATCACAAAT	0.333																																					Esophageal Squamous(42;87 913 3224 6226 43339)											0			12											58	60	59					12																	22796710		2202	4299	6501	22687977	SO:0001583	missense	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.437G>C	12.37:g.22796710G>C	ENSP00000266517:p.Gly146Ala		22687977	G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.507373|4.507373	0.85282|0.85282	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000538218;ENST00000541247|ENST00000266517;ENST00000381409;ENST00000335148	.|D;D	.|0.86366	.|-2.11;-2.11	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93314|0.93314	0.7869|0.7869	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.92683|0.92683	0.6160|0.6160	5|10	.|0.45353	.|T	.|0.12	-11.4435|-11.4435	19.2182|19.2182	0.93786|0.93786	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|146;146;146	.|E9PD44;Q9HBU6;G5E969	.|.;EKI1_HUMAN;.	Q|A	137;26|146	.|ENSP00000266517:G146A;ENSP00000334041:G146A	.|ENSP00000266517:G146A	E|G	+|+	1|2	0|0	ETNK1|ETNK1	22687977|22687977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	8.946000|8.946000	0.92992|0.92992	2.618000|2.618000	0.88619|0.88619	0.557000|0.557000	0.71058|0.71058	GAA|GGA		0.333	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		C	22796710	G	C	22796710	3	2	326	1	0	0	0	0	1	0	0	0	5273	1174	41	3	443	3	ETNK1	12	22796710	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09		22796710	111055185	44	17461											
AQP2	359	genome.wustl.edu	37	12	50344620	50344620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr12:50344620G>T	ENST00000199280.3	+	1	92	c.7G>T	c.(7-9)Gag>Tag	p.E3*	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	3					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CAGCATGTGGGAGCTCCGCTC	0.627																																																0			12											63	55	58					12																	50344620		2203	4300	6503	48630887	SO:0001587	stop_gained	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.7G>T	12.37:g.50344620G>T	ENSP00000199280:p.Glu3*		48630887	Q9UD68	Nonsense_Mutation	SNP	ENST00000199280.3	37	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	G	36	5.914556	0.97099	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	.	.	.	4.37	4.37	0.52481	.	0.285491	0.25078	N	0.033305	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.5723	14.8137	0.70013	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	ENSP00000199280:E3X	E	+	1	0	AQP2	48630887	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.641000	0.98458	2.432000	0.82394	0.655000	0.94253	GAG		0.627	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		T	50344620	G	T	50344620	4	4	326	1	0	0	0	0	0	1	0	0	826	1175	41	3	9	3	AQP2	12	50344620	Nonsense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	27547910	50344620	83507275	45	17462											
KRT86	3892	genome.wustl.edu	37	12	52695731	52695731	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr12:52695731G>C	ENST00000423955.2	+	3	209	c.31G>C	c.(31-33)Gcc>Ccc	p.A11P	KRT86_ENST00000293525.5_Missense_Mutation_p.A11P|KRT86_ENST00000544024.1_Missense_Mutation_p.A11P			O43790	KRT86_HUMAN	keratin 86	11	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGTGGCCGCGCCTTCAGCTG	0.667																																																0			12											49	56	53					12																	52695731		2166	4279	6445	50981998	SO:0001583	missense	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.31G>C	12.37:g.52695731G>C	ENSP00000444533:p.Ala11Pro		50981998	P78387	Missense_Mutation	SNP	ENST00000423955.2	37	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273967	0.40194	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.81659	-1.52;-1.52;-1.52	5.01	4.11	0.48088	.	1.824800	0.03602	U	0.233611	T	0.77356	0.4118	L	0.38175	1.15	0.29644	N	0.844475	P	0.35363	0.497	B	0.36808	0.233	T	0.66432	-0.5925	10	0.54805	T	0.06	.	10.7888	0.46422	0.0889:0.0:0.9111:0.0	.	11	O43790	KRT86_HUMAN	P	11	ENSP00000443169:A11P;ENSP00000444533:A11P;ENSP00000293525:A11P	ENSP00000293525:A11P	A	+	1	0	AC021066.1;KRT86	50981998	0.013000	0.17824	0.809000	0.32408	0.774000	0.43823	0.375000	0.20518	1.101000	0.41535	0.643000	0.83706	GCC		0.667	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		C	52695731	G	C	52695731	3	2	326	1	0	0	0	0	1	0	0	0	8500	1087	38	3	33	3	KRT86	12	52695731	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	2351111	52695731	81156164	46	17463											
ATP2B1	490	genome.wustl.edu	37	12	89984844	89984844	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr12:89984844T>C	ENST00000428670.3	-	21	4036	c.3580A>G	c.(3580-3582)Att>Gtt	p.I1194V	ATP2B1_ENST00000393164.2_Missense_Mutation_p.I937V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.I1194V|ATP2B1_ENST00000359142.3_3'UTR|RP11-981P6.1_ENST00000552778.1_RNA|AC068641.1_ENST00000585304.1_RNA|ATP2B1_ENST00000348959.3_Missense_Mutation_p.I1158V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1232					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GTAAGGTGAATTCCACTGTCA	0.423																																																0			12											237	210	219					12																	89984844		2203	4299	6502	88508975	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3580A>G	12.37:g.89984844T>C	ENSP00000392043:p.Ile1194Val		88508975	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	7.747	0.702523	0.15172	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000428670;ENST00000393164	D;D;D;D	0.94092	-3.2;-3.19;-3.2;-3.35	5.53	5.53	0.82687	.	0.298435	0.37304	N	0.002146	D	0.88149	0.6359	N	0.19112	0.55	0.44595	D	0.997566	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	D	0.83966	0.0324	10	0.45353	T	0.12	-30.4525	15.6593	0.77169	0.0:0.0:0.0:1.0	.	1194;1158	P20020-3;P20020-6	.;.	V	1194;1158;1194;937	ENSP00000261173:I1194V;ENSP00000343599:I1158V;ENSP00000392043:I1194V;ENSP00000376869:I937V	ENSP00000261173:I1194V	I	-	1	0	ATP2B1	88508975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.970000	0.56824	2.095000	0.63458	0.482000	0.46254	ATT		0.423	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		C	89984844	T	C	89984844	3	2	326	1	0	0	0	0	1	0	0	0	1139	1493	52	4	86	4	ATP2B1	12	89984844	Missense_Mutation	SNP	T	TCGA-29-1695-01A-01W-0633-09	37289113	89984844	43867051	47	17464											
CGNL1	84952	genome.wustl.edu	37	15	57734647	57734647	+	Missense_Mutation	SNP	G	G	A	rs373744980		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr15:57734647G>A	ENST00000281282.5	+	4	1852	c.1774G>A	c.(1774-1776)Gca>Aca	p.A592T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	592						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAAGTCTCGAGCAGCTGGGAG	0.398																																																0			15						G	THR/ALA	1,4383	2.1+/-5.4	0,1,2191	75	73	74		1774	5.5	1	15		74	0,8584		0,0,4292	no	missense	CGNL1	NM_032866.3	58	0,1,6483	AA,AG,GG		0.0,0.0228,0.0077	benign	592/1303	57734647	1,12967	2192	4292	6484	55521939	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1774G>A	15.37:g.57734647G>A	ENSP00000281282:p.Ala592Thr		55521939	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042439	0.75732	2.28E-4	0.0	ENSG00000128849	ENST00000281282	T	0.47177	0.85	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000048	T	0.52092	0.1713	M	0.65498	2.005	0.58432	D	0.999999	B	0.26120	0.142	B	0.31442	0.13	T	0.47548	-0.9109	10	0.29301	T	0.29	-8.2359	19.3079	0.94171	0.0:0.0:1.0:0.0	.	592	Q0VF96	CGNL1_HUMAN	T	592	ENSP00000281282:A592T	ENSP00000281282:A592T	A	+	1	0	CGNL1	55521939	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.109000	0.94291	2.555000	0.86185	0.557000	0.71058	GCA		0.398	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		A	57734647	G	A	57734647	3	1	326	1	0	0	0	0	1	0	0	0	3304	971	34	2	1784	2	CGNL1	15	57734647	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09		57734647	44796745	48	17465											
CRTC3	64784	genome.wustl.edu	37	15	91172654	91172654	+	Missense_Mutation	SNP	C	C	T	rs563914760		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr15:91172654C>T	ENST00000268184.6	+	11	1160	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	CRTC3_ENST00000420329.2_Missense_Mutation_p.R386W|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	386					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GTCTCGGCGTCGGCAGCCTCC	0.582			T	MAML2	salivary gland mucoepidermoid																																		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0			15											186	190	188					15																	91172654		2198	4298	6496	88973658	SO:0001583	missense	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1156C>T	15.37:g.91172654C>T	ENSP00000268184:p.Arg386Trp		88973658	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942410	0.34283	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.19532	2.14;2.14	5.18	-1.91	0.07641	.	0.159393	0.52532	D	0.000069	T	0.41351	0.1155	M	0.66939	2.045	0.38474	D	0.947534	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.42464	-0.9450	10	0.72032	D	0.01	-22.3577	15.7604	0.78076	0.3248:0.6752:0.0:0.0	.	386;386	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	W	350;386;386	ENSP00000268184:R386W;ENSP00000416573:R386W	ENSP00000268184:R386W	R	+	1	2	CRTC3	88973658	0.044000	0.20184	0.056000	0.19401	0.007000	0.05969	0.134000	0.15932	-0.514000	0.06488	-0.274000	0.10170	CGG		0.582	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		T	91172654	C	T	91172654	3	4	326	1	0	0	0	0	1	0	0	0	3901	875	31	1	1198	1	CRTC3	15	91172654	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	33438007	91172654	11358738	49	17466											
FTSJD1	55783	genome.wustl.edu	37	16	71319816	71319816	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr16:71319816T>G	ENST00000338099.5	-	3	344	c.8A>C	c.(7-9)aAg>aCg	p.K3T	CMTR2_ENST00000434935.2_Missense_Mutation_p.K3T			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	3					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										CTTTCTGCACTTACTCATTTT	0.353																																																0			16											37	37	37					16																	71319816		2194	4287	6481	69877317	SO:0001583	missense	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.8A>C	16.37:g.71319816T>G	ENSP00000337512:p.Lys3Thr		69877317	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852188	0.51270	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15952	2.38;2.38	5.69	5.69	0.88448	.	0.402722	0.27586	N	0.018715	T	0.12390	0.0301	N	0.22421	0.69	0.33616	D	0.604207	B	0.25719	0.132	B	0.20577	0.03	T	0.12708	-1.0537	10	0.39692	T	0.17	-19.9932	12.3458	0.55119	0.0:0.0:0.1403:0.8596	.	3	Q8IYT2	FTSJ1_HUMAN	T	3	ENSP00000337512:K3T;ENSP00000411148:K3T	ENSP00000337512:K3T	K	-	2	0	FTSJD1	69877317	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.916000	0.39986	2.165000	0.68154	0.528000	0.53228	AAG		0.353	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		G	71319816	T	G	71319816	3	3	326	1	0	0	0	0	1	0	0	0	6090	1609	56	5	2308	5	FTSJD1	16	71319816	Missense_Mutation	SNP	T	TCGA-29-1695-01A-01W-0633-09		71319816	19034937	50	17467											
ADAMTS18	170692	genome.wustl.edu	37	16	77355019	77355019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr16:77355019G>T	ENST00000282849.5	-	15	2662	c.2244C>A	c.(2242-2244)tgC>tgA	p.C748*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	748	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TATAAAACTTGCAAGTTGAAT	0.383																																																0			16											123	122	122					16																	77355019		2198	4300	6498	75912520	SO:0001587	stop_gained	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2244C>A	16.37:g.77355019G>T	ENSP00000282849:p.Cys748*		75912520	Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	46	12.494029	0.99672	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.67	5.67	0.87782	.	0.202633	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1672	0.54138	0.0775:0.0:0.9225:0.0	.	.	.	.	X	748	.	ENSP00000282849:C748X	C	-	3	2	ADAMTS18	75912520	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.373000	0.97168	2.692000	0.91855	0.650000	0.86243	TGC		0.383	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77355019	G	T	77355019	4	4	326	1	0	0	0	0	0	1	0	0	263	1311	46	3	1457	3	ADAMTS18	16	77355019	Nonsense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	6035203	77355019	12999734	51	17468											
ATP2C2	9914	genome.wustl.edu	37	16	84494381	84494381	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr16:84494381G>A	ENST00000262429.4	+	24	2544	c.2455G>A	c.(2455-2457)Ggg>Agg	p.G819R	ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Missense_Mutation_p.G848R	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	819					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CATCATCAGCGGGACCCTCTT	0.627																																																0			16											90	98	96					16																	84494381		2098	4207	6305	83051882	SO:0001583	missense	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2455G>A	16.37:g.84494381G>A	ENSP00000262429:p.Gly819Arg		83051882	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866347	0.71949	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.95949	-3.86;-3.86	5.41	5.41	0.78517	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.070917	0.64402	D	0.000017	D	0.98563	0.9520	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99097	1.0842	10	0.56958	D	0.05	.	18.5395	0.91022	0.0:0.0:1.0:0.0	.	848;668;668;836;819	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	R	848;819;668	ENSP00000397925:G848R;ENSP00000262429:G819R	ENSP00000262429:G819R	G	+	1	0	ATP2C2	83051882	1.000000	0.71417	0.984000	0.44739	0.108000	0.19459	9.328000	0.96403	2.684000	0.91462	0.655000	0.94253	GGG		0.627	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		A	84494381	G	A	84494381	3	1	326	1	0	0	0	0	1	0	0	0	1144	1116	39	1	2549	1	ATP2C2	16	84494381	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	7139362	84494381	5860372	52	17469											
CD68	968	genome.wustl.edu	37	17	7483560	7483560	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr17:7483560C>T	ENST00000250092.6	+	2	693	c.482C>T	c.(481-483)aCg>aTg	p.T161M	CD68_ENST00000380498.6_Missense_Mutation_p.T134M|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000417897.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000572046.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	161					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						GGAGACTACACGTGGACCAAT	0.562																																																0			17											91	73	79					17																	7483560		2203	4300	6503	7424284	SO:0001583	missense	968			S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"CD molecules"	1693	protein-coding gene	gene with protein product	"scavenger receptor class D, member 1", "CD68 antigen", "macrophage antigen CD68"	153634	"CD68 antigen"			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.482C>T	17.37:g.7483560C>T	ENSP00000250092:p.Thr161Met		7424284	B4DVT4|Q53HR6|Q53XI3|Q96BI7	Missense_Mutation	SNP	ENST00000250092.6	37	CCDS11114.1	.	.	.	.	.	.	.	.	.	.	C	6.450	0.451202	0.12223	.	.	ENSG00000129226	ENST00000250092;ENST00000380498	T	0.35048	1.33	5.99	-7.51	0.01346	.	1.147460	0.06271	N	0.695675	T	0.35799	0.0944	M	0.72118	2.19	0.09310	N	0.999999	B;B	0.23377	0.035;0.084	B;B	0.19391	0.025;0.025	T	0.35847	-0.9772	10	0.34782	T	0.22	3.1767	14.9224	0.70851	0.0:0.3852:0.0:0.6148	.	161;134	P34810;B4DVT4	CD68_HUMAN;.	M	161;104	ENSP00000250092:T161M	ENSP00000250092:T161M	T	+	2	0	CD68	7424284	0.000000	0.05858	0.002000	0.10522	0.119000	0.20118	-2.446000	0.01010	-1.195000	0.02680	-1.021000	0.02439	ACG		0.562	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		T	7483560	C	T	7483560	3	4	326	1	0	0	0	0	1	0	0	0	3030	536	19	1	488	1	CD68	17	7483560	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09		7483560	73711650	53	17470											
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578403	C	A	7578403	3	1	326	1	0	0	0	0	1	0	0	0	16381	710	25	3	771	3	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	94843	7578403	73616807	54	17471											
VEZF1	7716	genome.wustl.edu	37	17	56060253	56060253	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr17:56060253A>G	ENST00000581208.1	-	2	575	c.535T>C	c.(535-537)Tgt>Cgt	p.C179R	VEZF1_ENST00000584396.1_Missense_Mutation_p.C170R	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	179					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCCTTCCCACACATCTCACAA	0.498																																																0			17											83	65	71					17																	56060253		2203	4300	6503	53415252	SO:0001583	missense	7716			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.535T>C	17.37:g.56060253A>G	ENSP00000462337:p.Cys179Arg		53415252		Missense_Mutation	SNP	ENST00000581208.1	37	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596117	0.66332	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.70967	-0.4728	9	0.87932	D	0	-2.826	15.5805	0.76432	1.0:0.0:0.0:0.0	.	179	Q14119	VEZF1_HUMAN	R	179	.	ENSP00000258963:C179R	C	-	1	0	VEZF1	53415252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.331000	0.96430	2.094000	0.63399	0.523000	0.50628	TGT		0.498	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			G	56060253	A	G	56060253	3	3	326	1	0	0	0	0	1	0	0	0	17155	159	6	4	1050	4	VEZF1	17	56060253	Missense_Mutation	SNP	A	TCGA-29-1695-01A-01W-0633-09	48481850	56060253	25134957	55	17472											
TCEB3B	51224	genome.wustl.edu	37	18	44560009	44560009	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr18:44560009C>T	ENST00000332567.4	-	1	1979	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	543	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCGCTGAGGGCGTCCGGATTG	0.607																																																0			18											59	60	60					18																	44560009		2203	4300	6503	42814007	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1627G>A	18.37:g.44560009C>T	ENSP00000331302:p.Ala543Thr		42814007	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	4.916	0.170279	0.09339	.	.	ENSG00000206181	ENST00000332567	T	0.07021	3.23	1.26	-2.52	0.06346	.	1.329700	0.05240	N	0.512073	T	0.05364	0.0142	L	0.31752	0.955	0.09310	N	1	B	0.17667	0.023	B	0.14578	0.011	T	0.40346	-0.9568	10	0.33141	T	0.24	-1.3321	0.0906	0.00039	0.319:0.2492:0.1905:0.2414	.	543	Q8IYF1	ELOA2_HUMAN	T	543	ENSP00000331302:A543T	ENSP00000331302:A543T	A	-	1	0	TCEB3B	42814007	0.015000	0.18098	0.000000	0.03702	0.000000	0.00434	0.145000	0.16157	-1.107000	0.03004	-2.442000	0.00211	GCC		0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		T	44560009	C	T	44560009	3	4	326	1	0	0	0	0	1	0	0	0	15682	768	27	1	638	1	TCEB3B	18	44560009	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09		44560009	33517239	56	17473											
LONP1	9361	genome.wustl.edu	37	19	5707747	5707747	+	Silent	SNP	G	G	A	rs146893125		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr19:5707747G>A	ENST00000360614.3	-	6	1180	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	LONP1_ENST00000540670.2_Silent_p.A145A|LONP1_ENST00000593119.1_Silent_p.A277A|LONP1_ENST00000590729.1_Silent_p.A211A|LONP1_ENST00000585374.1_Silent_p.A227A	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATGGGACTCGGCCCCGGTGA	0.657																																																0			19						G		0,4406		0,0,2203	58	60	59		1023	-7.7	0.9	19	dbSNP_134	59	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	LONP1	NM_004793.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		341/960	5707747	1,13003	2203	4299	6502	5658747	SO:0001819	synonymous_variant	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1023C>T	19.37:g.5707747G>A			5658747		Silent	SNP	ENST00000360614.3	37	CCDS12148.1																																																																																				0.657	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		A	5707747	G	A	5707747	2	1	326	1	0	0	0	0	0	0	0	1	8892	1103	39	1		1	LONP1	19	5707747	Silent	SNP	G	TCGA-29-1695-01A-01W-0633-09		5707747	53421236	57	17474											
ATG4D	84971	genome.wustl.edu	37	19	10659588	10659588	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr19:10659588G>A	ENST00000309469.4	+	6	1017	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RNU7-140P_ENST00000459546.1_RNA|ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	282					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGTGTACAAGGCGGATGTGGC	0.647																																																0			19											91	78	82					19																	10659588		2203	4300	6503	10520588	SO:0001583	missense	84971			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.844G>A	19.37:g.10659588G>A	ENSP00000311318:p.Ala282Thr		10520588	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401441	0.83120	.	.	ENSG00000130734	ENST00000309469	T	0.42513	0.97	5.73	5.73	0.89815	.	0.156244	0.56097	D	0.000031	T	0.49167	0.1541	L	0.35593	1.075	0.80722	D	1	P;P	0.51240	0.891;0.943	B;P	0.54706	0.326;0.759	T	0.35076	-0.9803	10	0.41790	T	0.15	-13.7051	18.6439	0.91404	0.0:0.0:1.0:0.0	.	219;282	B4DGM8;Q86TL0	.;ATG4D_HUMAN	T	282	ENSP00000311318:A282T	ENSP00000311318:A282T	A	+	1	0	ATG4D	10520588	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	6.426000	0.73374	2.708000	0.92522	0.549000	0.68633	GCG		0.647	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		A	10659588	G	A	10659588	3	1	326	1	0	0	0	0	1	0	0	0	1099	1203	42	2	866	2	ATG4D	19	10659588	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09	4951841	10659588	48469395	58	17475											
MAP1S	55201	genome.wustl.edu	37	19	17836856	17836856	+	Silent	SNP	G	G	A	rs142794572	byFrequency	TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr19:17836856G>A	ENST00000324096.4	+	5	814	c.663G>A	c.(661-663)ccG>ccA	p.P221P	MAP1S_ENST00000544059.2_Silent_p.P195P|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	221	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGGAGCCACCGTCCCCCTTCG	0.701																																																0			19											24	25	25					19																	17836856		2202	4300	6502	17697856	SO:0001819	synonymous_variant	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.663G>A	19.37:g.17836856G>A			17697856	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	CCDS32954.1																																																																																				0.701	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		A	17836856	G	A	17836856	2	1	326	1	0	0	0	0	0	0	0	1	9234	1132	40	1		1	MAP1S	19	17836856	Silent	SNP	G	TCGA-29-1695-01A-01W-0633-09	7177268	17836856	41292127	59	17476											
GPI	2821	genome.wustl.edu	37	19	34856216	34856216	+	Silent	SNP	A	A	G	rs572523544	byFrequency	TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr19:34856216A>G	ENST00000356487.5	+	1	286	c.45A>G	c.(43-45)caA>caG	p.Q15Q	GPI_ENST00000586425.1_Silent_p.Q15Q|GPI_ENST00000415930.3_Silent_p.Q54Q	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	15					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AGCTGCAGCAATGGTACCGCG	0.672													A|||	2	0.000399361	0	0	5008	,	,		7823	0		0	False		,,,				2504	0.002															0			19											35	36	35					19																	34856216		2203	4300	6503	39548056	SO:0001819	synonymous_variant	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.45A>G	19.37:g.34856216A>G			39548056	B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	A	2.241	-0.373814	0.05034	.	.	ENSG00000105220	ENST00000392234	.	.	.	4.85	-7.64	0.01286	.	.	.	.	.	T	0.58235	0.2108	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.25082	-1.0142	7	0.87932	D	0	-8.0E-4	19.6364	0.95735	0.2144:0.0:0.7856:0.0	.	18	Q59F85	.	V	18	.	ENSP00000376067:M18V	M	+	1	0	GPI	39548056	0.015000	0.18098	0.011000	0.14972	0.091000	0.18340	-1.162000	0.03141	-1.617000	0.01570	-0.464000	0.05259	ATG		0.672	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			G	34856216	A	G	34856216	2	3	326	1	0	0	0	0	0	0	0	1	6611	98	4	4		4	GPI	19	34856216	Silent	SNP	A	TCGA-29-1695-01A-01W-0633-09	17019360	34856216	24272767	60	17477											
DMKN	93099	genome.wustl.edu	37	19	36002404	36002404	+	Missense_Mutation	SNP	C	C	T	rs56743379|rs138902616		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr19:36002404C>T	ENST00000339686.3	-	5	1003	c.827G>A	c.(826-828)aGc>aAc	p.S276N	DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S276N|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S276N|DMKN_ENST00000447113.2_Missense_Mutation_p.S276N|DMKN_ENST00000424570.2_Missense_Mutation_p.S276N|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S276N|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000467637.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	276	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			gccactgctgctgccactgct	0.647																																																1	Deletion - In frame(1)	ovary(1)	19											28	21	23					19																	36002404		2176	4255	6431	40694244	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.827G>A	19.37:g.36002404C>T	ENSP00000342012:p.Ser276Asn		40694244	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	7.414	0.635437	0.14322	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	3.2	-1.74	0.08056	.	0.904855	0.09337	N	0.815985	T	0.30696	0.0773	L	0.48642	1.525	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.001;0.003	T	0.32241	-0.9914	10	0.16896	T	0.51	5.0393	8.4003	0.32581	0.0:0.7659:0.0:0.2341	.	276;276;276;276;276	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	276	ENSP00000342012:S276N;ENSP00000394908:S276N;ENSP00000415277:S276N;ENSP00000414743:S276N;ENSP00000388404:S276N;ENSP00000409513:S276N	ENSP00000342012:S276N	S	-	2	0	DMKN	40694244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.213000	0.09305	-0.013000	0.14199	-1.984000	0.00453	AGC		0.647	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002404	C	T	36002404	3	4	326	1	0	0	0	0	1	0	0	0	4582	797	28	2	968	2	DMKN	19	36002404	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	1146188	36002404	23126579	61	17478											
LRFN3	79414	genome.wustl.edu	37	19	36435579	36435579	+	Silent	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr19:36435579C>T	ENST00000588831.1	+	4	2599	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	AF038458.3_ENST00000592518.1_lincRNA|LRFN3_ENST00000246529.3_Silent_p.C515C			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	515	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGTGGGCTGCGCCCGCTTCT	0.711																																																0			19											12	13	13					19																	36435579		2193	4279	6472	41127419	SO:0001819	synonymous_variant	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1545C>T	19.37:g.36435579C>T			41127419	Q6UY10	Silent	SNP	ENST00000588831.1	37	CCDS12483.1																																																																																				0.711	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		T	36435579	C	T	36435579	2	4	326	1	0	0	0	0	0	0	0	1	8939	776	27	1		1	LRFN3	19	36435579	Silent	SNP	C	TCGA-29-1695-01A-01W-0633-09	433175	36435579	22693404	62	17479											
TSKS	60385	genome.wustl.edu	37	19	50265390	50265390	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr19:50265390C>T	ENST00000246801.3	-	2	352	c.270G>A	c.(268-270)atG>atA	p.M90I	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	90					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CAGTGGGCTCCATGGCGGCCA	0.647																																																0			19											92	72	79					19																	50265390		2203	4300	6503	54957202	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.270G>A	19.37:g.50265390C>T	ENSP00000246801:p.Met90Ile		54957202	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985456	0.18889	.	.	ENSG00000126467	ENST00000246801	T	0.29142	1.58	4.69	3.66	0.41972	.	0.953557	0.08655	N	0.913362	T	0.21674	0.0522	N	0.24115	0.695	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.07195	-1.0785	10	0.48119	T	0.1	-8.0779	6.9749	0.24669	0.0:0.7978:0.0:0.2022	.	90	Q9UJT2	TSKS_HUMAN	I	90	ENSP00000246801:M90I	ENSP00000246801:M90I	M	-	3	0	TSKS	54957202	0.990000	0.36364	0.995000	0.50966	0.878000	0.50629	2.232000	0.43018	1.209000	0.43321	0.462000	0.41574	ATG		0.647	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		T	50265390	C	T	50265390	3	4	326	1	0	0	0	0	1	0	0	0	16626	594	21	2	1548	2	TSKS	19	50265390	Missense_Mutation	SNP	C	TCGA-29-1695-01A-01W-0633-09	13829811	50265390	8863593	63	17480											
TPTE	7179	genome.wustl.edu	37	21	10944684	10944684	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr21:10944684G>A	ENST00000361285.4	-	11	879	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	TPTE_ENST00000298232.7_Missense_Mutation_p.L166F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L146F	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	184					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATATTCCTAAGCAACTTAATG	0.289																																																0			21											154	169	164					21																	10944684		2203	4300	6503	9966555	SO:0001583	missense	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.550C>T	21.37:g.10944684G>A	ENSP00000355208:p.Leu184Phe		9966555	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	5.950	0.359298	0.11239	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98455	-4.94;-4.94;-4.94	2.31	-3.14	0.05250	Ion transport (1);	0.435272	0.21413	N	0.074943	D	0.94387	0.8195	L	0.47716	1.5	0.09310	N	1	B;B;B	0.27140	0.043;0.084;0.169	B;B;B	0.26517	0.023;0.042;0.07	D	0.88162	0.2858	10	0.56958	D	0.05	-2.1205	3.9106	0.09201	0.2744:0.3855:0.3401:0.0	.	146;166;184	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	166;184;146	ENSP00000298232:L166F;ENSP00000355208:L184F;ENSP00000344441:L146F	ENSP00000298232:L166F	L	-	1	0	TPTE	9966555	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-1.358000	0.02604	-0.745000	0.04772	0.194000	0.17425	CTT		0.289	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10944684	G	A	10944684	3	1	326	1	0	0	0	0	1	0	0	0	16430	971	34	2	1161	2	TPTE	21	10944684	Missense_Mutation	SNP	G	TCGA-29-1695-01A-01W-0633-09		10944684	37185211	64	17481											
ADAMTS5	11096	genome.wustl.edu	37	21	28302267	28302267	+	Silent	SNP	G	G	A	rs201435455		TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr21:28302267G>A	ENST00000284987.5	-	7	2284	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	721	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACATACTCCGCACTTGTCAT	0.443													G|||	1	0.000199681	0	0	5008	,	,		18598	0		0.001	False		,,,				2504	0				Esophageal Squamous(53;683 1080 10100 14424 45938)											0			21						G		0,4406		0,0,2203	211	188	196		2163	-3.7	0.8	21		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS5	NM_007038.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		721/931	28302267	1,13005	2203	4300	6503	27224138	SO:0001819	synonymous_variant	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2163C>T	21.37:g.28302267G>A			27224138	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	CCDS13579.1																																																																																				0.443	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			A	28302267	G	A	28302267	2	1	326	1	0	0	0	0	0	0	0	1	269	1079	38	1		1	ADAMTS5	21	28302267	Silent	SNP	G	TCGA-29-1695-01A-01W-0633-09	17357583	28302267	19827628	65	17482											
ADAMTS5	11096	genome.wustl.edu	37	21	28315730	28315730	+	Silent	SNP	G	G	A			TCGA-29-1695-01A-01W-0633-09	TCGA-29-1695-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bbf1daec-d2ee-4279-932a-024e03ac9273	03e23f9c-96bb-44a0-9f3f-db563f94848b	g.chr21:28315730G>A	ENST00000284987.5	-	3	1495	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	458	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTGTGATGGTGGCTGAAGTGC	0.423																																					Esophageal Squamous(53;683 1080 10100 14424 45938)											0			21											112	93	99					21																	28315730		2203	4300	6503	27237601	SO:0001819	synonymous_variant	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1374C>T	21.37:g.28315730G>A			27237601	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	CCDS13579.1																																																																																				0.423	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			A	28315730	G	A	28315730	2	1	326	1	0	0	0	0	0	0	0	1	269	1335	47	2		2	ADAMTS5	21	28315730	Silent	SNP	G	TCGA-29-1695-01A-01W-0633-09	13463	28315730	19814165	66	17483											
VCAM1	7412	genome.wustl.edu	37	1	101190292	101190292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:101190292G>A	ENST00000294728.2	+	4	875	c.774G>A	c.(772-774)tgG>tgA	p.W258*	VCAM1_ENST00000370119.4_Nonsense_Mutation_p.W196*|VCAM1_ENST00000370115.1_Nonsense_Mutation_p.W258*|VCAM1_ENST00000347652.2_Nonsense_Mutation_p.W258*	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	258	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGATTTTCTGGAGTAAGAAAT	0.428																																																0			1											77	73	75					1																	101190292		2203	4299	6502	100962880	SO:0001587	stop_gained	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.774G>A	1.37:g.101190292G>A	ENSP00000294728:p.Trp258*		100962880	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Nonsense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	g	37	6.379206	0.97520	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	.	.	.	5.38	5.38	0.77491	.	0.196799	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5938	14.9889	0.71371	0.0:0.0:1.0:0.0	.	.	.	.	X	196;258;258;258	.	ENSP00000294728:W258X	W	+	3	0	VCAM1	100962880	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.344000	0.65981	2.692000	0.91855	0.651000	0.88453	TGG		0.428	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		A	101190292	G	A	101190292	4	1	327	1	0	0	0	0	0	1	0	0	17137	1183	41	2	788	2	VCAM1	1	101190292	Nonsense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09		101190292	148060329	1	17484											
ATXN7L2	127002	genome.wustl.edu	37	1	110029152	110029152	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:110029152C>G	ENST00000369870.3	+	3	233	c.218C>G	c.(217-219)cCt>cGt	p.P73R		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	73										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGCACTGCCCTGCCCATGAT	0.562																																																0			1											68	55	60					1																	110029152		2203	4300	6503	109830675	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.218C>G	1.37:g.110029152C>G	ENSP00000358886:p.Pro73Arg		109830675		Missense_Mutation	SNP	ENST00000369870.3	37	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002218	0.74932	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.31247	1.5	4.72	4.72	0.59763	.	0.000000	0.56097	D	0.000031	T	0.46328	0.1387	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49943	-0.8885	10	0.87932	D	0	-7.4444	16.801	0.85614	0.0:1.0:0.0:0.0	.	73	Q5T6C5	AT7L2_HUMAN	R	73	ENSP00000358886:P73R	ENSP00000358886:P73R	P	+	2	0	ATXN7L2	109830675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.311000	0.78958	2.346000	0.79739	0.484000	0.47621	CCT		0.562	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		G	110029152	C	G	110029152	3	3	327	1	0	0	0	0	1	0	0	0	1217	681	24	3	228	3	ATXN7L2	1	110029152	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09	8838860	110029152	139221469	2	17485											
NOTCH2NL	388677	genome.wustl.edu	37	1	145281696	145281696	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:145281696G>A	ENST00000369340.3	+	5	1070	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C209Y|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C209Y|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C209Y			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	209	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GAGTGCAACTGCCTTCCAGGT	0.547																																																0			1											85	86	86					1																	145281696		2202	4297	6499	143993053	SO:0001583	missense	388677				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.626G>A	1.37:g.145281696G>A	ENSP00000358346:p.Cys209Tyr		143993053	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213003	0.58452	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	T;T;T	0.76060	-0.99;-0.99;-0.99	2.87	2.87	0.33458	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89424	0.6711	H	0.98738	4.315	0.38208	D	0.940387	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.92042	0.5641	9	0.87932	D	0	.	11.5361	0.50639	0.0:0.0:1.0:0.0	.	209;209	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	Y	209	ENSP00000354929:C209Y;ENSP00000344557:C209Y;ENSP00000358346:C209Y	ENSP00000344557:C209Y	C	+	2	0	NOTCH2NL	143993053	1.000000	0.71417	0.996000	0.52242	0.582000	0.36321	9.576000	0.98192	1.601000	0.50113	0.400000	0.26472	TGC		0.547	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		A	145281696	G	A	145281696	3	1	327	1	0	0	0	0	1	0	0	0	10549	1319	46	2	636	2	NOTCH2NL	1	145281696	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09	35252544	145281696	103968925	3	17486											
FLG2	388698	genome.wustl.edu	37	1	152323318	152323318	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:152323318G>T	ENST00000388718.5	-	3	7016	c.6944C>A	c.(6943-6945)tCc>tAc	p.S2315Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2315					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTGTGGATTGTCCATA	0.463																																																0			1											305	278	287					1																	152323318		2203	4300	6503	150589942	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6944C>A	1.37:g.152323318G>T	ENSP00000373370:p.Ser2315Tyr		150589942	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746196	0.30955	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	3.3	1.22	0.21188	.	.	.	.	.	T	0.07143	0.0181	M	0.65975	2.015	0.09310	N	1	D	0.61080	0.989	D	0.69142	0.962	T	0.16394	-1.0404	9	0.59425	D	0.04	2.3647	7.6637	0.28417	0.0:0.0:0.54:0.46	.	2315	Q5D862	FILA2_HUMAN	Y	2315	ENSP00000373370:S2315Y	ENSP00000373370:S2315Y	S	-	2	0	FLG2	150589942	0.110000	0.22057	0.000000	0.03702	0.001000	0.01503	0.764000	0.26532	0.348000	0.23949	-0.302000	0.09304	TCC		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152323318	G	T	152323318	3	4	327	1	0	0	0	0	1	0	0	0	5923	1174	41	3	235	3	FLG2	1	152323318	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09	7041622	152323318	96927303	4	17487											
FLG2	388698	genome.wustl.edu	37	1	152325724	152325724	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:152325724C>T	ENST00000388718.5	-	3	4610	c.4538G>A	c.(4537-4539)gGc>gAc	p.G1513D	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1513					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGCGAGCCCCCTGAGTG	0.493																																																0			1											328	316	320					1																	152325724		2203	4300	6503	150592348	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4538G>A	1.37:g.152325724C>T	ENSP00000373370:p.Gly1513Asp		150592348	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	c	2.661	-0.279656	0.05642	.	.	ENSG00000143520	ENST00000388718	T	0.01665	4.7	4.54	-9.08	0.00720	.	.	.	.	.	T	0.00210	0.0006	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46582	-0.9181	9	0.12103	T	0.63	5.236	0.5468	0.00655	0.2993:0.2705:0.1388:0.2914	.	1513	Q5D862	FILA2_HUMAN	D	1513	ENSP00000373370:G1513D	ENSP00000373370:G1513D	G	-	2	0	FLG2	150592348	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.848000	0.00178	-4.682000	0.00036	-2.317000	0.00253	GGC		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152325724	C	T	152325724	3	4	327	1	0	0	0	0	1	0	0	0	5923	739	26	2	2641	2	FLG2	1	152325724	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09	2406	152325724	96924897	5	17488											
SCN7A	6332	genome.wustl.edu	37	2	167322041	167322041	+	Splice_Site	SNP	T	T	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr2:167322041T>A	ENST00000409855.1	-	8	998	c.872A>T	c.(871-873)gAa>gTa	p.E291V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	291					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GTTTTCTGTTTCTGAAAAACA	0.353																																																0			2											29	27	27					2																	167322041		1811	4071	5882	167030287	SO:0001630	splice_region_variant	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.872-1A>T	2.37:g.167322041T>A			167030287		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219530	0.58560	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98264	-4.15;-4.21;-4.83	5.33	4.09	0.47781	Ion transport (1);	0.000000	0.56097	D	0.000024	D	0.97917	0.9315	L	0.53249	1.67	0.28629	N	0.907781	D	0.89917	1.0	D	0.87578	0.998	D	0.93797	0.7097	10	0.56958	D	0.05	.	5.8703	0.18799	0.1639:0.0:0.1705:0.6655	.	291	Q01118	SCN7A_HUMAN	V	291	ENSP00000386796:E291V;ENSP00000413699:E291V;ENSP00000403846:E291V	ENSP00000259060:E291V	E	-	2	0	SCN7A	167030287	0.003000	0.15002	1.000000	0.80357	0.798000	0.45092	1.437000	0.34991	2.146000	0.66826	0.477000	0.44152	GAA		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		Missense_Mutation	A	167322041	T	A	167322041	5	1	327	1	0	0	0	0	0	0	1	0	13926	1797	62	5	4248	5	SCN7A	2	167322041	Splice_Site	SNP	T	TCGA-29-1696-01A-01W-0633-09		167322041	75877332	6	17489											
FLNB	2317	genome.wustl.edu	37	3	58116574	58116574	+	Silent	SNP	C	C	T	rs372181766		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr3:58116574C>T	ENST00000295956.4	+	25	4494	c.4329C>T	c.(4327-4329)ttC>ttT	p.F1443F	FLNB_ENST00000429972.2_Silent_p.F1443F|FLNB_ENST00000419752.2_Silent_p.F1274F|FLNB_ENST00000490882.1_Silent_p.F1443F|FLNB_ENST00000493452.1_Silent_p.F1274F|FLNB_ENST00000358537.3_Silent_p.F1443F|FLNB_ENST00000357272.4_Silent_p.F1443F|FLNB_ENST00000348383.5_Silent_p.F1443F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1443	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.F1443F(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCAGTCCTTCACGGTGGACA	0.632																																																1	Substitution - coding silent(1)	ovary(1)	3											32	31	31					3																	58116574		2203	4300	6503	58091614	SO:0001819	synonymous_variant	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4329C>T	3.37:g.58116574C>T			58091614	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	CCDS2885.1																																																																																				0.632	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		T	58116574	C	T	58116574	2	4	327	1	0	0	0	0	0	0	0	1	5934	825	29	2		2	FLNB	3	58116574	Silent	SNP	C	TCGA-29-1696-01A-01W-0633-09		58116574	139905856	7	17490											
HLTF	6596	genome.wustl.edu	37	3	148802626	148802626	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr3:148802626T>C	ENST00000310053.5	-	2	264	c.71A>G	c.(70-72)aAt>aGt	p.N24S	HLTF_ENST00000465259.1_Missense_Mutation_p.N24S|HLTF-AS1_ENST00000492461.1_RNA|HLTF_ENST00000481663.1_5'UTR|HLTF_ENST00000494055.1_Missense_Mutation_p.N24S|HLTF_ENST00000392912.2_Missense_Mutation_p.N24S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	24					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N24S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCGTGGAAAATTTCCATGAAC	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											93	95	94					3																	148802626		2203	4300	6503	150285316	SO:0001583	missense	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.71A>G	3.37:g.148802626T>C	ENSP00000308944:p.Asn24Ser		150285316	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661127	0.29515	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	4.79	-0.522	0.11928	.	.	.	.	.	T	0.78227	0.4250	L	0.29908	0.895	0.28050	N	0.933397	B;B;B	0.28055	0.199;0.199;0.199	B;B;B	0.23852	0.049;0.049;0.049	T	0.65302	-0.6201	9	0.30854	T	0.27	-1.1469	5.0148	0.14330	0.0:0.172:0.2951:0.5329	.	24;24;24	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	S	24;24;24;24;21;21	ENSP00000420745:N24S;ENSP00000308944:N24S;ENSP00000376644:N24S;ENSP00000420429:N24S	ENSP00000308944:N24S	N	-	2	0	HLTF	150285316	0.805000	0.28982	0.994000	0.49952	0.572000	0.35998	-0.310000	0.08135	0.315000	0.23110	-0.435000	0.05868	AAT		0.353	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			C	148802626	T	C	148802626	3	2	327	1	0	0	0	0	1	0	0	0	7215	1493	52	4	3054	4	HLTF	3	148802626	Missense_Mutation	SNP	T	TCGA-29-1696-01A-01W-0633-09	90686052	148802626	49219804	8	17491											
SMC4	10051	genome.wustl.edu	37	3	160120603	160120603	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr3:160120603A>T	ENST00000357388.3	+	4	909	c.458A>T	c.(457-459)aAg>aTg	p.K153M	SMC4_ENST00000462787.1_Missense_Mutation_p.K153M|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000469762.1_Missense_Mutation_p.K128M|SMC4_ENST00000344722.5_Missense_Mutation_p.K153M|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000470240.1_3'UTR|MIR15B_ENST00000385045.1_RNA|SMC4_ENST00000360111.2_Missense_Mutation_p.K153M	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	153					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GATGAACACAAGGACATTCAG	0.308																																																0			3											88	93	91					3																	160120603		2203	4300	6503	161603297	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.458A>T	3.37:g.160120603A>T	ENSP00000349961:p.Lys153Met		161603297	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510958	0.64522	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.38	2.83	0.33086	RecF/RecN/SMC (1);	0.267618	0.41001	D	0.000979	T	0.73032	0.3535	M	0.63843	1.955	0.38907	D	0.957448	P;P;P	0.43477	0.654;0.602;0.808	P;P;P	0.56514	0.698;0.65;0.8	T	0.74768	-0.3553	10	0.72032	D	0.01	-11.2539	8.5531	0.33465	0.5668:0.3658:0.0674:0.0	.	153;128;153	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	M	153;153;153;153;153;153;28;28;128;153;153;153;81;153	ENSP00000418820:K153M;ENSP00000349961:K153M;ENSP00000419247:K153M;ENSP00000420644:K153M;ENSP00000353225:K153M;ENSP00000417999:K28M;ENSP00000419360:K28M;ENSP00000417964:K128M;ENSP00000420121:K153M;ENSP00000420734:K153M;ENSP00000420817:K153M;ENSP00000417612:K81M;ENSP00000341382:K153M	ENSP00000341382:K153M	K	+	2	0	SMC4	161603297	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.445000	0.35079	0.842000	0.35045	0.402000	0.26972	AAG		0.308	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			T	160120603	A	T	160120603	3	4	327	1	0	0	0	0	1	0	0	0	14788	72	3	5	468	5	SMC4	3	160120603	Missense_Mutation	SNP	A	TCGA-29-1696-01A-01W-0633-09	11317977	160120603	37901827	9	17492											
SLC7A14	57709	genome.wustl.edu	37	3	170198276	170198276	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr3:170198276G>T	ENST00000231706.5	-	7	2110	c.1795C>A	c.(1795-1797)Ctt>Att	p.L599I	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	599					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACAACCAGAAGGATGGCCCAC	0.537																																																0			3											81	77	78					3																	170198276		2203	4300	6503	171680970	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1795C>A	3.37:g.170198276G>T	ENSP00000231706:p.Leu599Ile		171680970	B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.260158	0.39995	.	.	ENSG00000013293	ENST00000231706	D	0.88664	-2.41	5.5	5.5	0.81552	.	0.119478	0.64402	D	0.000019	D	0.84160	0.5411	L	0.47716	1.5	0.58432	D	0.999996	P	0.38473	0.633	B	0.29862	0.108	T	0.82448	-0.0452	10	0.18710	T	0.47	.	19.3717	0.94490	0.0:0.0:1.0:0.0	.	599	Q8TBB6	S7A14_HUMAN	I	599	ENSP00000231706:L599I	ENSP00000231706:L599I	L	-	1	0	SLC7A14	171680970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.981000	0.63819	2.569000	0.86673	0.655000	0.94253	CTT		0.537	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		T	170198276	G	T	170198276	3	4	327	1	0	0	0	0	1	0	0	0	14699	1000	35	3	528	3	SLC7A14	3	170198276	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09	10077673	170198276	27824154	10	17493											
CDKL2	8999	genome.wustl.edu	37	4	76532439	76532439	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr4:76532439A>G	ENST00000429927.2	-	4	1173	c.470T>C	c.(469-471)gTt>gCt	p.V157A	CDKL2_ENST00000307465.4_Missense_Mutation_p.V157A	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATCAGTATAAACCTCCCCAGG	0.458																																																0			4											89	84	86					4																	76532439		2203	4300	6503	76751463	SO:0001583	missense	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.470T>C	4.37:g.76532439A>G	ENSP00000412365:p.Val157Ala		76751463	B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	a	4.061	0.009070	0.07912	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.64618	-0.11;-0.11	4.72	-0.592	0.11671	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.38188	0.1031	N	0.20766	0.605	0.25320	N	0.989129	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.22941	-1.0202	9	0.11182	T	0.66	-7.8139	5.4053	0.16318	0.4489:0.0:0.4085:0.1427	.	157;157	B4DH08;Q92772	.;CDKL2_HUMAN	A	157	ENSP00000412365:V157A;ENSP00000306340:V157A	ENSP00000306340:V157A	V	-	2	0	CDKL2	76751463	0.038000	0.19896	0.875000	0.34327	0.822000	0.46500	0.300000	0.19156	-0.146000	0.11274	-1.035000	0.02400	GTT		0.458	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		G	76532439	A	G	76532439	3	3	327	1	0	0	0	0	1	0	0	0	3154	43	2	4	1043	4	CDKL2	4	76532439	Missense_Mutation	SNP	A	TCGA-29-1696-01A-01W-0633-09		76532439	114621837	11	17494											
USP53	54532	genome.wustl.edu	37	4	120189534	120189534	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr4:120189534C>G	ENST00000274030.6	+	14	2426	c.1247C>G	c.(1246-1248)tCt>tGt	p.S416C	USP53_ENST00000450251.1_Missense_Mutation_p.S416C	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATTTCATCATCTAATCGGAGC	0.363																																																0			4											73	68	69					4																	120189534		1848	4104	5952	120408982	SO:0001583	missense	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1247C>G	4.37:g.120189534C>G	ENSP00000274030:p.Ser416Cys		120408982		Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	8.399	0.841538	0.16963	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.44482	0.92;0.92	5.46	4.29	0.51040	.	0.207171	0.39475	N	0.001356	T	0.19805	0.0476	N	0.08118	0	0.22142	N	0.999335	P	0.41748	0.761	B	0.34038	0.174	T	0.06734	-1.0810	10	0.51188	T	0.08	-7.6001	9.337	0.38056	0.0:0.083:0.0:0.917	.	416	Q70EK8	UBP53_HUMAN	C	416	ENSP00000274030:S416C;ENSP00000409906:S416C	ENSP00000274030:S416C	S	+	2	0	USP53	120408982	1.000000	0.71417	0.889000	0.34880	0.189000	0.23516	4.129000	0.57957	0.922000	0.37019	-0.471000	0.05019	TCT		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		G	120189534	C	G	120189534	3	3	327	1	0	0	0	0	1	0	0	0	17084	913	32	3	1285	3	USP53	4	120189534	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09	43657095	120189534	70964742	12	17495											
PCDHGA10	56106	genome.wustl.edu	37	5	140794665	140794665	+	Silent	SNP	G	G	T	rs578221269	byFrequency	TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr5:140794665G>T	ENST00000398610.2	+	1	1923	c.1923G>T	c.(1921-1923)gcG>gcT	p.A641A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAAA	0.697													g|||	2	0.000399361	0.0015	0	5008	,	,		15772	0		0	False		,,,				2504	0															0			5											51	61	57					5																	140794665		2202	4297	6499	140774849	SO:0001819	synonymous_variant	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1923G>T	5.37:g.140794665G>T			140774849	Q9Y5E0	Silent	SNP	ENST00000398610.2	37	CCDS47292.1																																																																																				0.697	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		T	140794665	G	T	140794665	2	4	327	1	0	0	0	0	0	0	0	1	11551	1074	38	3		3	PCDHGA10	5	140794665	Silent	SNP	G	TCGA-29-1696-01A-01W-0633-09		140794665	40120595	13	17496											
HSPA1B	3304	genome.wustl.edu	37	6	31797634	31797634	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr6:31797634C>A	ENST00000375650.3	+	1	2123	c.1907C>A	c.(1906-1908)aCc>aAc	p.T636N	HSPA1B_ENST00000545241.1_Missense_Mutation_p.T545N	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	636					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						TCAGGCCCTACCATTGAGGAG	0.562																																																0			6											70	84	79					6																	31797634		1720	3373	5093	31905613	SO:0001583	missense	3304				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"Heat shock proteins / HSP70"	5233	protein-coding gene	gene with protein product		603012	"heat shock 70kD protein 1B"			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1907C>A	6.37:g.31797634C>A	ENSP00000364801:p.Thr636Asn		31905613	B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	ENST00000375650.3	37	CCDS34415.1	.	.	.	.	.	.	.	.	.	.	C	9.466	1.094263	0.20471	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241	T;T	0.01252	5.36;5.1	4.38	4.38	0.52667	.	0.000000	0.39544	N	0.001333	T	0.02970	0.0088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45249	-0.9274	7	0.87932	D	0	-29.5842	14.7791	0.69751	0.0:1.0:0.0:0.0	.	.	.	.	N	703;636;619;545	ENSP00000364801:T636N;ENSP00000442789:T545N	ENSP00000364801:T636N	T	+	2	0	HSPA1B	31905613	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	7.725000	0.84808	2.138000	0.66242	0.467000	0.42956	ACC		0.562	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076402.2			A	31797634	C	A	31797634	3	1	327	1	0	0	0	0	1	0	0	0	7409	507	18	3	1909	3	HSPA1B	6	31797634	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09		31797634	139317433	14	17497											
DEF6	50619	genome.wustl.edu	37	6	35289008	35289008	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr6:35289008C>A	ENST00000316637.5	+	11	1722	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	DEF6_ENST00000542066.1_Missense_Mutation_p.P318T	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	573						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CTTCCAGCCCCCTCTGCTTGC	0.612																																																0			6											158	163	162					6																	35289008		2203	4300	6503	35396986	SO:0001583	missense	50619			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1717C>A	6.37:g.35289008C>A	ENSP00000319831:p.Pro573Thr		35396986	Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903237	0.33628	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.23147	1.92;3.52	5.42	0.351	0.16042	.	0.598323	0.18580	N	0.137078	T	0.05593	0.0147	L	0.41824	1.3	0.27743	N	0.944419	B;B;B	0.22414	0.069;0.005;0.005	B;B;B	0.24701	0.055;0.007;0.007	T	0.43925	-0.9361	10	0.09590	T	0.72	0.0062	8.4016	0.32590	0.0:0.5687:0.0:0.4313	.	318;573;573	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	T	318;573	ENSP00000442166:P318T;ENSP00000319831:P573T	ENSP00000319831:P573T	P	+	1	0	DEF6	35396986	0.001000	0.12720	0.623000	0.29173	0.996000	0.88848	-0.816000	0.04477	-0.007000	0.14345	0.561000	0.74099	CCT		0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		A	35289008	C	A	35289008	3	1	327	1	0	0	0	0	1	0	0	0	4386	623	22	3	1759	3	DEF6	6	35289008	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09	3491374	35289008	135826059	15	17498											
C6orf221	154288	genome.wustl.edu	37	6	74072828	74072828	+	Silent	SNP	A	A	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr6:74072828A>G	ENST00000370367.3	+	2	233	c.180A>G	c.(178-180)ggA>ggG	p.G60G		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	60	KH; atypical.						RNA binding (GO:0003723)										GCCGGGGCGGAGAACGCATCC	0.617																																																0			6											91	83	86					6																	74072828		2203	4300	6503	74129549	SO:0001819	synonymous_variant	154288			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.180A>G	6.37:g.74072828A>G			74129549	B2RNW7	Silent	SNP	ENST00000370367.3	37	CCDS34484.1																																																																																				0.617	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		G	74072828	A	G	74072828	2	3	327	1	0	0	0	0	0	0	0	1	2355	291	11	4		4	C6orf221	6	74072828	Silent	SNP	A	TCGA-29-1696-01A-01W-0633-09	38783820	74072828	97042239	16	17499											
TMEM130	222865	genome.wustl.edu	37	7	98445826	98445826	+	Silent	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr7:98445826C>T	ENST00000416379.2	-	8	1165	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000450876.1_Silent_p.P291P|TMEM130_ENST00000546258.1_Silent_p.P356P|TMEM130_ENST00000339375.4_Silent_p.P375P|TMEM130_ENST00000345589.4_Silent_p.P273P			Q8N3G9	TM130_HUMAN	transmembrane protein 130	387						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGGTGGCTCCGGGTTCTTGT	0.552																																																0			7											45	45	45					7																	98445826		2203	4300	6503	98283762	SO:0001819	synonymous_variant	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1161G>A	7.37:g.98445826C>T			98283762	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	CCDS47650.1																																																																																				0.552	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		T	98445826	C	T	98445826	2	4	327	1	0	0	0	0	0	0	0	1	16043	639	23	1		1	TMEM130	7	98445826	Silent	SNP	C	TCGA-29-1696-01A-01W-0633-09		98445826	60692837	17	17500											
CLEC5A	23601	genome.wustl.edu	37	7	141643759	141643759	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr7:141643759G>T	ENST00000546910.1	-	4	341	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	CLEC5A_ENST00000438351.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	49					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					CCAAAAATCTGTGAGACTAAA	0.428																																					GBM(154;1592 2613 3360 42983)											0			7											206	184	191					7																	141643759		2203	4300	6503	141290228	SO:0001583	missense	23601				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"C-type lectin domain containing"	2054	protein-coding gene	gene with protein product		604987	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.145C>A	7.37:g.141643759G>T	ENSP00000449999:p.Gln49Lys		141290228	Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	G	1.505	-0.550963	0.03996	.	.	ENSG00000258227	ENST00000546910	T	0.01947	4.54	4.35	0.0841	0.14436	.	0.469632	0.18090	N	0.152032	T	0.01558	0.0050	L	0.32530	0.975	0.28108	N	0.931122	B;B	0.16396	0.017;0.01	B;B	0.18561	0.022;0.01	T	0.48747	-0.9008	10	0.05351	T	0.99	1.8559	7.0371	0.24998	0.0:0.3135:0.3677:0.3188	.	49;49	Q9NY25-2;Q9NY25	.;CLC5A_HUMAN	K	49	ENSP00000449999:Q49K	ENSP00000265306:Q49K	Q	-	1	0	CLEC5A	141290228	0.004000	0.15560	0.196000	0.23383	0.059000	0.15707	0.071000	0.14594	0.010000	0.14839	0.655000	0.94253	CAG		0.428	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		T	141643759	G	T	141643759	3	4	327	1	0	0	0	0	1	0	0	0	3519	1386	48	3	437	3	CLEC5A	7	141643759	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09	43197933	141643759	17494904	18	17501											
GSDMC	56169	genome.wustl.edu	37	8	130788401	130788401	+	Silent	SNP	G	G	T	rs116234640		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr8:130788401G>T	ENST00000276708.4	-	3	1232	c.351C>A	c.(349-351)ctC>ctA	p.L117L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	117						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTTGAAACTCGAGGGAGCATC	0.493																																																0			8											198	161	173					8																	130788401		2203	4300	6503	130857583	SO:0001819	synonymous_variant	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.351C>A	8.37:g.130788401G>T			130857583	Q5XKF3|Q6P494	Silent	SNP	ENST00000276708.4	37	CCDS6360.1																																																																																				0.493	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			T	130788401	G	T	130788401	2	4	327	1	0	0	0	0	0	0	0	1	6818	1045	37	3		3	GSDMC	8	130788401	Silent	SNP	G	TCGA-29-1696-01A-01W-0633-09		130788401	15575621	19	17502											
PTPRD	5789	genome.wustl.edu	37	9	8499677	8499677	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr9:8499677C>T	ENST00000381196.4	-	22	2835	c.2292G>A	c.(2290-2292)atG>atA	p.M764I	PTPRD_ENST00000360074.4_Missense_Mutation_p.M751I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M751I|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.M764I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M764I|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	764	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATCTTTCAGCATGGGCTGGC	0.443										TSP Lung(15;0.13)																																						0			9											167	144	152					9																	8499677		2203	4300	6503	8489677	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2292G>A	9.37:g.8499677C>T	ENSP00000370593:p.Met764Ile		8489677	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	4.535	0.099385	0.08681	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.56275	0.71;0.71;0.74;0.47;0.71	5.69	4.8	0.61643	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.101299	0.64402	D	0.000003	T	0.31231	0.0790	N	0.05306	-0.075	0.41396	D	0.987643	B;B;B	0.17465	0.001;0.022;0.001	B;B;B	0.16722	0.006;0.016;0.001	T	0.10064	-1.0646	9	.	.	.	.	14.5826	0.68302	0.0:0.9299:0.0:0.0701	.	751;764;764	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	I	764;764;751;751;764	ENSP00000370593:M764I;ENSP00000348812:M764I;ENSP00000353187:M751I;ENSP00000351293:M751I;ENSP00000438164:M764I	.	M	-	3	0	PTPRD	8489677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.101000	0.57769	1.414000	0.47017	0.591000	0.81541	ATG		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8499677	C	T	8499677	3	4	327	1	0	0	0	0	1	0	0	0	12802	710	25	2	3602	2	PTPRD	9	8499677	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09		8499677	132713754	20	17503											
TNC	3371	genome.wustl.edu	37	9	117846715	117846715	+	Missense_Mutation	SNP	G	G	A	rs375940361		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr9:117846715G>A	ENST00000350763.4	-	4	2315	c.1904C>T	c.(1903-1905)aCg>aTg	p.T635M	TNC_ENST00000542877.1_Missense_Mutation_p.T635M|TNC_ENST00000535648.1_Missense_Mutation_p.T635M|TNC_ENST00000341037.4_Missense_Mutation_p.T635M|TNC_ENST00000340094.3_Missense_Mutation_p.T635M|TNC_ENST00000537320.1_Missense_Mutation_p.T635M|TNC_ENST00000423613.2_Missense_Mutation_p.T635M|TNC_ENST00000346706.3_Missense_Mutation_p.T635M|TNC_ENST00000345230.3_Missense_Mutation_p.T635M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	635	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGTCTCTTCCGTCACTTCTGT	0.522																																																0			9						G	MET/THR	0,4406		0,0,2203	127	115	119		1904	5.9	1	9		119	1,8599	2.2+/-6.3	0,1,4299	no	missense	TNC	NM_002160.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	635/2202	117846715	1,13005	2203	4300	6503	116886536	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1904C>T	9.37:g.117846715G>A	ENSP00000265131:p.Thr635Met		116886536	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587367	0.86851	0.0	1.16E-4	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.60920	3.27;0.15;3.27;0.15;0.15;0.15;0.15;0.15;0.15	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.092011	0.85682	D	0.000000	D	0.82563	0.5064	M	0.91561	3.22	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.85139	0.0979	10	0.72032	D	0.01	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	635;635	E9PC84;P24821	.;TENA_HUMAN	M	635	ENSP00000344400:T635M;ENSP00000438152:T635M;ENSP00000344555:T635M;ENSP00000345861:T635M;ENSP00000265131:T635M;ENSP00000339553:T635M;ENSP00000411406:T635M;ENSP00000443478:T635M;ENSP00000442242:T635M	ENSP00000344400:T635M	T	-	2	0	TNC	116886536	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	6.044000	0.71012	2.810000	0.96702	0.655000	0.94253	ACG		0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117846715	G	A	117846715	3	1	327	1	0	0	0	0	1	0	0	0	16270	1145	40	1	4801	1	TNC	9	117846715	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09	109347038	117846715	23366716	21	17504											
SPAG6	9576	genome.wustl.edu	37	10	22676766	22676766	+	Silent	SNP	A	A	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr10:22676766A>T	ENST00000376624.3	+	6	835	c.693A>T	c.(691-693)tcA>tcT	p.S231S	SPAG6_ENST00000376603.2_Silent_p.S307S|SPAG6_ENST00000313311.6_Silent_p.S231S|SPAG6_ENST00000538630.1_Silent_p.S206S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	231					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGATCCTTTCAGCTCTCAGTC	0.373																																																0			10											76	76	76					10																	22676766		2203	4300	6503	22716772	SO:0001819	synonymous_variant	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.693A>T	10.37:g.22676766A>T			22716772	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	ENST00000376624.3	37	CCDS7139.1																																																																																				0.373	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			T	22676766	A	T	22676766	2	4	327	1	0	0	0	0	0	0	0	1	14985	175	7	5		5	SPAG6	10	22676766	Silent	SNP	A	TCGA-29-1696-01A-01W-0633-09		22676766	112857981	22	17505											
KIF20B	9585	genome.wustl.edu	37	10	91511156	91511156	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr10:91511156C>G	ENST00000371728.3	+	24	4215	c.4150C>G	c.(4150-4152)Cag>Gag	p.Q1384E	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.Q1414E|KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1384E|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1344E	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1384					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTAGAAGAACAGGAACAAAC	0.358																																																0			10											160	166	164					10																	91511156		2203	4300	6503	91501136	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4150C>G	10.37:g.91511156C>G	ENSP00000360793:p.Gln1384Glu		91501136	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	C	26.3	4.725789	0.89298	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;D;T	0.82081	-1.41;-1.47;-1.57;-1.48	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000100	D	0.90967	0.7160	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.83275	0.991;0.996	D	0.89563	0.3808	10	0.45353	T	0.12	-16.9831	20.2195	0.98323	0.0:1.0:0.0:0.0	.	1384;1344	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	E	1344;1414;1384;1384	ENSP00000260753:Q1344E;ENSP00000411545:Q1414E;ENSP00000377830:Q1384E;ENSP00000360793:Q1384E	ENSP00000260753:Q1344E	Q	+	1	0	KIF20B	91501136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.932000	0.70121	2.852000	0.98041	0.643000	0.83706	CAG		0.358	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		G	91511156	C	G	91511156	3	3	327	1	0	0	0	0	1	0	0	0	8287	479	17	3	4120	3	KIF20B	10	91511156	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09	68834390	91511156	44023591	23	17506											
OR5M1	390168	genome.wustl.edu	37	11	56380946	56380946	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr11:56380946T>A	ENST00000526538.1	-	1	32	c.33A>T	c.(31-33)gaA>gaT	p.E11D		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGAGAATGAATTCTGTCACTA	0.443																																																0			11											152	139	143					11																	56380946		1890	4116	6006	56137522	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.33A>T	11.37:g.56380946T>A	ENSP00000435416:p.Glu11Asp		56137522	Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.558901	0.27827	.	.	ENSG00000255012	ENST00000526538	T	0.00566	6.55	3.71	-0.0591	0.13794	.	0.366027	0.19649	N	0.109278	T	0.00580	0.0019	M	0.69185	2.1	0.22457	N	0.999086	B	0.18610	0.029	B	0.18263	0.021	T	0.45366	-0.9266	10	0.56958	D	0.05	-25.6802	4.7503	0.13057	0.0:0.4289:0.2051:0.366	.	11	Q8NGP8	OR5M1_HUMAN	D	11	ENSP00000435416:E11D	ENSP00000435416:E11D	E	-	3	2	OR5M1	56137522	0.000000	0.05858	0.108000	0.21378	0.633000	0.38033	-2.587000	0.00902	-0.168000	0.10853	0.232000	0.17820	GAA		0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		A	56380946	T	A	56380946	3	1	327	1	0	0	0	0	1	0	0	0	11172	1490	52	5	918	5	OR5M1	11	56380946	Missense_Mutation	SNP	T	TCGA-29-1696-01A-01W-0633-09		56380946	78625570	24	17507											
SYTL2	54843	genome.wustl.edu	37	11	85459432	85459432	+	Silent	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr11:85459432G>A	ENST00000528231.1	-	2	413	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	SYTL2_ENST00000524452.1_Silent_p.L46L|SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000316356.4_Silent_p.L46L|SYTL2_ENST00000389960.4_Silent_p.L46L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	46	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATATTCTTCAGCTGCTGGTCA	0.388																																																0			11											139	129	132					11																	85459432		2203	4299	6502	85137080	SO:0001819	synonymous_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.136C>T	11.37:g.85459432G>A			85137080	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.388	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		A	85459432	G	A	85459432	2	1	327	1	0	0	0	0	0	0	0	1	15483	962	34	2		2	SYTL2	11	85459432	Silent	SNP	G	TCGA-29-1696-01A-01W-0633-09	29078486	85459432	49547084	25	17508											
KRAS	3845	genome.wustl.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	12	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86					12																	25398285		2203	4300	6503	25289552	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg		25289552	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		G	25398285	C	G	25398285	3	3	327	1	0	0	0	0	1	0	0	0	8438	594	21	3	672	3	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09		25398285	108453610	26	17509											
GATC	51499	genome.wustl.edu	37	12	120884482	120884482	+	5'Flank	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr12:120884482C>T	ENST00000546954.1	-	0	0				AL021546.6_ENST00000551806.1_Silent_p.C66C|GATC_ENST00000551765.1_Missense_Mutation_p.A35V|TRIAP1_ENST00000302432.3_5'Flank	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCACGGCTGCGGTGATCGAG	0.692																																																0			12											28	32	31					12																	120884482		2200	4296	6496	119368865	SO:0001631	upstream_gene_variant	283459				CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"p53-inducible cell-survival factor", "mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884482C>T	Exception_encountered		119368865	B2R4Z7|Q5RKS5|Q6LCA7	Missense_Mutation	SNP	ENST00000546954.1	37	CCDS9198.1	.	.	.	.	.	.	.	.	.	.	c	16.41	3.115882	0.56505	.	.	ENSG00000257218	ENST00000551765	T	0.48836	0.8	5.08	1.33	0.21861	.	0.401624	0.29293	N	0.012561	T	0.42359	0.1199	L	0.61036	1.89	0.09310	N	1	B	0.31040	0.305	B	0.25405	0.06	T	0.30327	-0.9982	10	0.44086	T	0.13	-5.5013	13.4488	0.61158	0.4337:0.5663:0.0:0.0	.	35	O43716	GATC_HUMAN	V	35	ENSP00000446872:A35V	ENSP00000448397:A35V	A	+	2	0	AL021546.1	119368865	0.829000	0.29322	0.025000	0.17156	0.024000	0.10985	2.150000	0.42254	0.070000	0.16634	-1.228000	0.01579	GCG		0.692	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108980.3	NM_016399		T	120884482	C	T	120884482	1	4	327	0	1	0	0	0	0	0	0	0	6262	768	27	1		1	GATC	12	120884482	5'Flank	SNP	C	TCGA-29-1696-01A-01W-0633-09	95486197	120884482	12967413	27	17510											
FGF14	2259	genome.wustl.edu	37	13	102527630	102527630	+	Silent	SNP	A	A	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr13:102527630A>T	ENST00000376143.4	-	2	209	c.210T>A	c.(208-210)ggT>ggA	p.G70G	FGF14_ENST00000376131.4_Silent_p.G75G|FGF14_ENST00000468052.1_5'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	70					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.G75G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGTCACTATACCCTTGAGCT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	13											148	131	137					13																	102527630		2203	4300	6503	101325631	SO:0001819	synonymous_variant	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.210T>A	13.37:g.102527630A>T			101325631	Q86YN7|Q96QX6	Silent	SNP	ENST00000376143.4	37	CCDS9501.1																																																																																				0.418	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			T	102527630	A	T	102527630	2	4	327	1	0	0	0	0	0	0	0	1	5843	378	14	5		5	FGF14	13	102527630	Silent	SNP	A	TCGA-29-1696-01A-01W-0633-09		102527630	12642248	28	17511											
IL25	64806	genome.wustl.edu	37	14	23844876	23844876	+	Silent	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr14:23844876C>T	ENST00000329715.2	+	2	579	c.321C>T	c.(319-321)caC>caT	p.H107H	CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000555731.1_5'Flank|IL25_ENST00000397242.2_Silent_p.H91H	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	107					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ACCTGTACCACGCCCGTTGCC	0.632																																																0			14											92	93	92					14																	23844876		2203	4300	6503	22914716	SO:0001819	synonymous_variant	64806			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.321C>T	14.37:g.23844876C>T			22914716	Q2M3F0|Q8IZV3|Q8WXB0	Silent	SNP	ENST00000329715.2	37	CCDS9597.1																																																																																				0.632	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			T	23844876	C	T	23844876	2	4	327	1	0	0	0	0	0	0	0	1	7678	535	19	1		1	IL25	14	23844876	Silent	SNP	C	TCGA-29-1696-01A-01W-0633-09		23844876	83504664	29	17512											
SLC10A1	6554	genome.wustl.edu	37	14	70252852	70252852	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr14:70252852T>G	ENST00000216540.4	-	2	662	c.529A>C	c.(529-531)Aaa>Caa	p.K177Q		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	177					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	CGTTTGGATTTGAGGACGATC	0.458																																																0			14											197	165	176					14																	70252852		2203	4300	6503	69322605	SO:0001583	missense	6554			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"Solute carriers"	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.529A>C	14.37:g.70252852T>G	ENSP00000216540:p.Lys177Gln		69322605	B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226257	0.79576	.	.	ENSG00000100652	ENST00000216540	T	0.13307	2.6	5.01	5.01	0.66863	.	0.252267	0.45361	D	0.000366	T	0.19327	0.0464	L	0.35793	1.09	0.39860	D	0.973366	P	0.49307	0.922	P	0.51945	0.685	T	0.02512	-1.1148	10	0.28530	T	0.3	-1.5623	14.839	0.70209	0.0:0.0:0.0:1.0	.	177	Q14973	NTCP_HUMAN	Q	177	ENSP00000216540:K177Q	ENSP00000216540:K177Q	K	-	1	0	SLC10A1	69322605	1.000000	0.71417	0.941000	0.38009	0.744000	0.42396	7.339000	0.79282	2.227000	0.72691	0.459000	0.35465	AAA		0.458	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			G	70252852	T	G	70252852	3	3	327	1	0	0	0	0	1	0	0	0	14376	1821	63	5	536	5	SLC10A1	14	70252852	Missense_Mutation	SNP	T	TCGA-29-1696-01A-01W-0633-09	46407976	70252852	37096688	30	17513											
KIAA1409	57578	genome.wustl.edu	37	14	94044375	94044375	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr14:94044375G>T	ENST00000393151.2	+	18	2399	c.2399G>T	c.(2398-2400)tGt>tTt	p.C800F	UNC79_ENST00000256339.4_Missense_Mutation_p.C623F|UNC79_ENST00000555664.1_Missense_Mutation_p.C800F|UNC79_ENST00000553484.1_Missense_Mutation_p.C800F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	800					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AATCTAAATTGTTTCATCCTC	0.413																																																0			14											128	120	123					14																	94044375		2203	4300	6503	93114128	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2399G>T	14.37:g.94044375G>T	ENSP00000376858:p.Cys800Phe		93114128	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	23.3	4.402499	0.83230	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.25085	1.83;1.83;1.82;1.83	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	T	0.50259	-0.8849	10	0.87932	D	0	-3.5131	19.0159	0.92894	0.0:0.0:1.0:0.0	.	800	C9JQL1	.	F	623;800;800;800;800	ENSP00000256339:C623F;ENSP00000450868:C800F;ENSP00000451360:C800F;ENSP00000376858:C800F	ENSP00000256339:C623F	C	+	2	0	KIAA1409	93114128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.502000	0.84385	0.650000	0.86243	TGT		0.413	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94044375	G	T	94044375	3	4	327	1	0	0	0	0	1	0	0	0	8230	1377	48	3	1926	3	KIAA1409	14	94044375	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09	23791523	94044375	13305165	31	17514											
DIO3	1735	genome.wustl.edu	37	14	102028323	102028323	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr14:102028323A>C	ENST00000510508.4	+	1	636	c.490A>C	c.(490-492)Aat>Cat	p.N164H	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.N138H			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	164					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCTGGTTCTCAATTTCGGCAG	0.637																																																0			14											31	36	34					14																	102028323		2064	4203	6267	101098076	SO:0001583	missense	1735			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.490A>C	14.37:g.102028323A>C	ENSP00000427336:p.Asn164His		101098076	G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092886	0.76756	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.46451	0.87;0.87	3.51	3.51	0.40186	Thioredoxin-like fold (1);	0.000000	0.49305	U	0.000160	T	0.67961	0.2949	M	0.90369	3.11	0.36669	D	0.878415	D	0.89917	1.0	D	0.87578	0.998	T	0.78770	-0.2074	10	0.87932	D	0	.	11.3789	0.49746	1.0:0.0:0.0:0.0	.	138	P55073	IOD3_HUMAN	H	138;164	ENSP00000352273:N138H;ENSP00000427336:N164H	ENSP00000352273:N164H	N	+	1	0	DIO3;AL049836.1	101098076	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.220000	0.78008	1.469000	0.48083	0.379000	0.24179	AAT		0.637	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		C	102028323	A	C	102028323	3	2	327	1	0	0	0	0	1	0	0	0	4526	130	5	5	492	5	DIO3	14	102028323	Missense_Mutation	SNP	A	TCGA-29-1696-01A-01W-0633-09	7983948	102028323	5321217	32	17515											
INO80	54617	genome.wustl.edu	37	15	41342295	41342295	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr15:41342295C>G	ENST00000361937.3	-	20	2704	c.2280G>C	c.(2278-2280)gaG>gaC	p.E760D	INO80_ENST00000401393.3_Missense_Mutation_p.E760D			Q9ULG1	INO80_HUMAN	INO80 complex subunit	760	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACATTAGAATCTCAATCTAAA	0.328																																																0			15											72	70	71					15																	41342295		2203	4300	6503	39129587	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2280G>C	15.37:g.41342295C>G	ENSP00000355205:p.Glu760Asp		39129587	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670434	0.67814	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	T;T	0.78246	-1.16;-1.16	5.14	2.21	0.28008	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	M	0.77616	2.38	0.58432	D	0.999996	D	0.63046	0.992	D	0.74348	0.983	D	0.85537	0.1213	10	0.87932	D	0	.	10.3698	0.44046	0.0:0.7214:0.0:0.2786	.	760	Q9ULG1	INO80_HUMAN	D	760	ENSP00000355205:E760D;ENSP00000384686:E760D	ENSP00000355205:E760D	E	-	3	2	INO80	39129587	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.345000	0.33953	0.574000	0.29417	-0.463000	0.05309	GAG		0.328	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		G	41342295	C	G	41342295	3	3	327	1	0	0	0	0	1	0	0	0	7746	912	32	3	2458	3	INO80	15	41342295	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09		41342295	61189097	33	17516											
DMXL2	23312	genome.wustl.edu	37	15	51829060	51829060	+	Splice_Site	SNP	C	C	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr15:51829060C>A	ENST00000251076.5	-	12	1905		c.e12-1		DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAAAAGAAACCTGAAAAACAT	0.328																																																0			15											45	45	45					15																	51829060		2195	4293	6488	49616352	SO:0001630	splice_region_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1618-1G>T	15.37:g.51829060C>A			49616352	B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442892	0.83993	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0202	0.92910	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49616352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.440000	0.80464	2.484000	0.83849	0.591000	0.81541	.		0.328	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	A	51829060	C	A	51829060	5	1	327	1	0	0	0	0	0	0	1	0	4595	695	24	3	7624	3	DMXL2	15	51829060	Splice_Site	SNP	C	TCGA-29-1696-01A-01W-0633-09	10486765	51829060	50702332	34	17517											
SV2B	9899	genome.wustl.edu	37	15	91832845	91832845	+	Silent	SNP	G	G	C	rs373675789		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr15:91832845G>C	ENST00000394232.1	+	12	2273	c.1803G>C	c.(1801-1803)ggG>ggC	p.G601G	SV2B_ENST00000330276.4_Silent_p.G601G|SV2B_ENST00000545111.2_Silent_p.G450G	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	601					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGTTCTGTGGGACAAGCATTG	0.532																																																0			15											162	135	144					15																	91832845		2198	4298	6496	89633849	SO:0001819	synonymous_variant	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1803G>C	15.37:g.91832845G>C			89633849	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																				0.532	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		C	91832845	G	C	91832845	2	2	327	1	0	0	0	0	0	0	0	1	15418	1161	41	3		3	SV2B	15	91832845	Silent	SNP	G	TCGA-29-1696-01A-01W-0633-09	40003785	91832845	10698547	35	17518											
SH2B1	25970	genome.wustl.edu	37	16	28880684	28880684	+	Missense_Mutation	SNP	G	G	C	rs537530500		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr16:28880684G>C	ENST00000322610.8	+	7	1728	c.1289G>C	c.(1288-1290)aGc>aCc	p.S430T	SH2B1_ENST00000359285.5_Missense_Mutation_p.S430T|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.S120T|SH2B1_ENST00000337120.5_Missense_Mutation_p.S430T|SH2B1_ENST00000538342.1_Missense_Mutation_p.S94T|SH2B1_ENST00000395532.4_Missense_Mutation_p.S430T			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	430	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCAGCGAGAGCAATGACCGC	0.622													G|||	1	0.000199681	0	0	5008	,	,		17534	0		0	False		,,,				2504	0.001															0			16											41	39	40					16																	28880684		2197	4300	6497	28788185	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1289G>C	16.37:g.28880684G>C	ENSP00000321221:p.Ser430Thr		28788185	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964227	0.74131	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.53423	0.62;1.37;0.64;1.29;0.63;0.63	5.17	5.17	0.71159	.	0.390291	0.27429	N	0.019405	T	0.51517	0.1679	N	0.14661	0.345	0.39018	D	0.959698	B;P;P;P;D	0.63880	0.018;0.954;0.892;0.892;0.993	B;D;P;B;D	0.70935	0.013;0.943;0.542;0.422;0.971	T	0.53933	-0.8368	10	0.29301	T	0.29	-37.729	17.4379	0.87557	0.0:0.0:1.0:0.0	.	94;120;430;430;430	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	T	430;120;430;94;430;430	ENSP00000321221:S430T;ENSP00000440354:S120T;ENSP00000352232:S430T;ENSP00000438784:S94T;ENSP00000378903:S430T;ENSP00000337163:S430T	ENSP00000321221:S430T	S	+	2	0	SH2B1	28788185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.390000	0.59646	2.401000	0.81631	0.467000	0.42956	AGC		0.622	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		C	28880684	G	C	28880684	3	2	327	1	0	0	0	0	1	0	0	0	14230	971	34	3	1303	3	SH2B1	16	28880684	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09		28880684	61474069	36	17519											
SLC12A4	6560	genome.wustl.edu	37	16	67979014	67979032	+	Frame_Shift_Del	DEL	TGGGTGGGCCAGGCATGTT	TGGGTGGGCCAGGCATGTT	-			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	TGGGTGGGCCAGGCATGTT	TGGGTGGGCCAGGCATGTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr16:67979014_67979032delTGGGTGGGCCAGGCATGTT	ENST00000316341.3	-	23	3264_3282	c.3124_3142delAACATGCCTGGCCCACCCA	c.(3124-3144)aacatgcctggcccacccaggfs	p.NMPGPPR1042fs	LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000572037.1_Frame_Shift_Del_p.NMPGPPR994fs|SLC12A4_ENST00000541864.2_Frame_Shift_Del_p.NMPGPPR1011fs|SLC12A4_ENST00000537830.2_Frame_Shift_Del_p.NMPGPPR1036fs|SLC12A4_ENST00000576616.1_Frame_Shift_Del_p.NMPGPPR1042fs|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Frame_Shift_Del_p.NMPGPPR1044fs|SLC12A4_ENST00000338335.3_3'UTR	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1042					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACC	0.589																																																0			16																																								66536533	SO:0001589	frameshift_variant	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.3124_3142delAACATGCCTGGCCCACCCA	16.37:g.67979014_67979032delTGGGTGGGCCAGGCATGTT	ENSP00000318557:p.Asn1042fs		66536515	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Frame_Shift_Del	DEL	ENST00000316341.3	37	CCDS10855.1																																																																																				0.589	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		-	67979032	TGGGTGGGCCAGGCATGTT	-	67979014	7	5	327	1	0	1	0	1	0	0	0	0	14388	1579	55	0	123	0	SLC12A4	16	67979014	Frame_Shift_Del	DEL	TGGGTGGGCCAGGCATGTT	TCGA-29-1696-01A-01W-0633-09	39098330	67979014	22375739	37	17520											
CAMKK1	84254	genome.wustl.edu	37	17	3779660	3779660	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr17:3779660C>G	ENST00000348335.2	-	10	1001	c.853G>C	c.(853-855)Gat>Cat	p.D285H	CAMKK1_ENST00000158166.5_Missense_Mutation_p.D323H|CAMKK1_ENST00000381771.2_Missense_Mutation_p.D323H|CAMKK1_ENST00000381769.2_Missense_Mutation_p.D312H	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TGCCCATCATCCCCCAGGAGC	0.617																																																0			17											188	136	154					17																	3779660		2203	4300	6503	3726409	SO:0001583	missense	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.853G>C	17.37:g.3779660C>G	ENSP00000323118:p.Asp285His		3726409	Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743077	0.89663	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.72	5.72	0.89469	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	0.68851	0.3046	N	0.20304	0.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.973;0.981	T	0.72743	-0.4201	10	0.72032	D	0.01	-26.8205	18.8711	0.92315	0.0:1.0:0.0:0.0	.	323;285	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	H	312;285;323;323	ENSP00000371188:D312H;ENSP00000323118:D285H;ENSP00000371190:D323H;ENSP00000158166:D323H	ENSP00000158166:D323H	D	-	1	0	CAMKK1	3726409	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.374000	0.79633	2.717000	0.92951	0.650000	0.86243	GAT		0.617	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		G	3779660	C	G	3779660	3	3	327	1	0	0	0	0	1	0	0	0	2606	855	30	3	696	3	CAMKK1	17	3779660	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09		3779660	77415550	38	17521											
TP53	7157	genome.wustl.edu	37	17	7578197	7578197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr17:7578197delC	ENST00000269305.4	-	6	841	c.652delG	c.(652-654)gtgfs	p.V218fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.V218fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V218fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V218fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V218fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.V218fs	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	218	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.V218M(7)|p.V218del(5)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218L(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.S215_V218>M(1)|p.V216_Y220delVVVPY(1)|p.S215fs*29(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)	TCATAGGGCACCACCACACTA	0.557		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"	44	Unknown(11)|Deletion - In frame(9)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - Frameshift(6)|Complex - deletion inframe(2)	endometrium(6)|biliary_tract(5)|oesophagus(5)|peritoneum(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(2)|cervix(1)|stomach(1)|soft_tissue(1)|skin(1)|lung(1)|ovary(1)	17											118	106	110					17																	7578197		2203	4300	6503	7518922	SO:0001589	frameshift_variant	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.652delG	17.37:g.7578197delC	ENSP00000269305:p.Val218fs		7518922	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578197	C	-	7578197	7	5	327	1	0	1	0	1	0	0	0	0	16381	507	18	0	642	0	TP53	17	7578197	Frame_Shift_Del	DEL	C	TCGA-29-1696-01A-01W-0633-09	3798537	7578197	73617013	39	17522											
CDK12	51755	genome.wustl.edu	37	17	37682330	37682330	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr17:37682330C>G	ENST00000447079.4	+	13	3554	c.3521C>G	c.(3520-3522)gCc>gGc	p.A1174G	CDK12_ENST00000430627.2_Missense_Mutation_p.A1174G	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1174					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.A1174G(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAGACCATGGCCCCAGAGGAG	0.572			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Missense(1)	ovary(1)	17											71	65	67					17																	37682330		2203	4300	6503	34935856	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3521C>G	17.37:g.37682330C>G	ENSP00000398880:p.Ala1174Gly		34935856	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677066	0.47886	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69806	-0.43;-0.42	5.28	4.3	0.51218	.	0.000000	0.47455	D	0.000228	T	0.56601	0.1996	L	0.36672	1.1	0.39952	D	0.974554	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.54323	-0.8311	10	0.35671	T	0.21	-0.8242	14.2795	0.66202	0.0:0.8512:0.1488:0.0	.	1173;1174;1174	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	G	1174	ENSP00000407720:A1174G;ENSP00000398880:A1174G	ENSP00000407720:A1174G	A	+	2	0	CDK12	34935856	0.987000	0.35691	0.998000	0.56505	0.985000	0.73830	2.711000	0.47177	1.343000	0.45638	0.650000	0.86243	GCC		0.572	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		G	37682330	C	G	37682330	3	3	327	1	0	0	0	0	1	0	0	0	3128	739	26	3	3571	3	CDK12	17	37682330	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09	30104133	37682330	43512880	40	17523											
SMCHD1	23347	genome.wustl.edu	37	18	2726478	2726478	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr18:2726478G>A	ENST00000320876.6	+	22	3067	c.2729G>A	c.(2728-2730)gGc>gAc	p.G910D	SMCHD1_ENST00000261598.8_Missense_Mutation_p.G910D|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	910					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACTCTGCCTGGCTTAAAAGAA	0.254																																																0			18											23	23	23					18																	2726478		1746	3923	5669	2716478	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2729G>A	18.37:g.2726478G>A	ENSP00000326603:p.Gly910Asp		2716478	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999853	0.35320	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.39997	1.05;1.08	5.4	5.4	0.78164	.	0.055838	0.64402	D	0.000001	T	0.49558	0.1564	M	0.61703	1.905	0.43061	D	0.994684	B	0.31054	0.306	B	0.36845	0.234	T	0.53535	-0.8425	10	0.87932	D	0	-10.6682	19.5457	0.95295	0.0:0.0:1.0:0.0	.	910	A6NHR9	SMHD1_HUMAN	D	910	ENSP00000326603:G910D;ENSP00000261598:G910D	ENSP00000261598:G910D	G	+	2	0	SMCHD1	2716478	1.000000	0.71417	0.802000	0.32245	0.659000	0.38960	6.972000	0.76110	2.673000	0.90976	0.655000	0.94253	GGC		0.254	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2726478	G	A	2726478	3	1	327	1	0	0	0	0	1	0	0	0	14791	1203	42	2	2815	2	SMCHD1	18	2726478	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09		2726478	75350770	41	17524											
MYOM1	8736	genome.wustl.edu	37	18	3102625	3102625	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr18:3102625G>A	ENST00000356443.4	-	23	3755	c.3422C>T	c.(3421-3423)aCc>aTc	p.T1141I	MYOM1_ENST00000261606.7_Missense_Mutation_p.T1045I|MYOM1_ENST00000400569.3_Missense_Mutation_p.T1141I	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1141	Ig-like C2-type 3.			T -> R (in Ref. 5; CAA48833). {ECO:0000305}.	muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACCTCTTTGGTTCCTACAAG	0.393																																																0			18											112	108	109					18																	3102625		1892	4115	6007	3092625	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3422C>T	18.37:g.3102625G>A	ENSP00000348821:p.Thr1141Ile		3092625	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215186	0.79352	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.51071	0.85;0.86;0.72	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.998	T	0.66276	-0.5964	10	0.21540	T	0.41	.	19.52	0.95182	0.0:0.0:1.0:0.0	.	1045;1141	P52179-2;P52179	.;MYOM1_HUMAN	I	1141;1141;1045	ENSP00000348821:T1141I;ENSP00000383413:T1141I;ENSP00000261606:T1045I	ENSP00000261606:T1045I	T	-	2	0	MYOM1	3092625	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.802000	0.99131	2.611000	0.88343	0.557000	0.71058	ACC		0.393	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3102625	G	A	3102625	3	1	327	1	0	0	0	0	1	0	0	0	10091	1261	44	2	1699	2	MYOM1	18	3102625	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09	376147	3102625	74974623	42	17525											
CD226	10666	genome.wustl.edu	37	18	67563053	67563053	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr18:67563053C>A	ENST00000280200.4	-	4	879	c.611G>T	c.(610-612)tGg>tTg	p.W204L	CD226_ENST00000577287.1_Missense_Mutation_p.W49L|CD226_ENST00000581982.1_Missense_Mutation_p.W49L|CD226_ENST00000582621.1_Missense_Mutation_p.W204L	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	204	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GATGACGCTCCACCTTCCGTG	0.522																																					NSCLC(184;838 2130 8673 21498 50749)											0			18											128	113	118					18																	67563053		2203	4300	6503	65714033	SO:0001583	missense	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.611G>T	18.37:g.67563053C>A	ENSP00000280200:p.Trp204Leu		65714033	B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	8.015	0.758368	0.15846	.	.	ENSG00000150637	ENST00000280200	T	0.20069	2.1	4.82	-1.47	0.08772	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.681186	0.16219	N	0.224129	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.27773	-1.0064	10	0.26408	T	0.33	.	4.3663	0.11227	0.1544:0.3872:0.0:0.4585	.	204	Q15762	CD226_HUMAN	L	204	ENSP00000280200:W204L	ENSP00000280200:W204L	W	-	2	0	CD226	65714033	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.678000	0.05209	-0.428000	0.07339	-0.143000	0.13931	TGG		0.522	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		A	67563053	C	A	67563053	3	1	327	1	0	0	0	0	1	0	0	0	2986	595	21	3	415	3	CD226	18	67563053	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09	64460428	67563053	10514195	43	17526											
KIAA1543	57662	genome.wustl.edu	37	19	7682693	7682693	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr19:7682693G>T	ENST00000160298.4	+	17	3601	c.3500G>T	c.(3499-3501)tGc>tTc	p.C1167F	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.C1194F	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1167	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GACTCGAGCTGCCAGTTCCGG	0.632																																																0			19											29	33	32					19																	7682693		1960	4139	6099	7588693	SO:0001583	missense	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3500G>T	19.37:g.7682693G>T	ENSP00000160298:p.Cys1167Phe		7588693	Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531154	0.85706	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.18338	2.23;2.22	5.06	5.06	0.68205	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	M	0.73372	2.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.34576	-0.9823	10	0.87932	D	0	-15.9455	17.348	0.87315	0.0:0.0:1.0:0.0	.	1178;1167;1194	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	F	1194;1167	ENSP00000416797:C1194F;ENSP00000160298:C1167F	ENSP00000160298:C1167F	C	+	2	0	KIAA1543	7588693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.438000	0.97539	2.630000	0.89119	0.462000	0.41574	TGC		0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		T	7682693	G	T	7682693	3	4	327	1	0	0	0	0	1	0	0	0	8243	1319	46	3	3655	3	KIAA1543	19	7682693	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09		7682693	51446290	44	17527											
SIN3B	23309	genome.wustl.edu	37	19	16980673	16980673	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr19:16980673G>C	ENST00000248054.5	+	13	2230	c.2209G>C	c.(2209-2211)Gac>Cac	p.D737H	SIN3B_ENST00000379803.1_Missense_Mutation_p.D769H|SIN3B_ENST00000595541.1_Missense_Mutation_p.D327H					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAAGCCCCTGGACGATGTCTA	0.642																																																0			19											50	44	46					19																	16980673		2203	4300	6503	16841673	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2209G>C	19.37:g.16980673G>C	ENSP00000248054:p.Asp737His		16841673		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	15.74	2.922513	0.52653	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.49720	0.77;0.77	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.971	T	0.70321	-0.4904	10	0.59425	D	0.04	-44.8798	17.6919	0.88270	0.0:0.0:1.0:0.0	.	327;737;769	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	H	769;737	ENSP00000369131:D769H;ENSP00000248054:D737H	ENSP00000248054:D737H	D	+	1	0	SIN3B	16841673	1.000000	0.71417	0.829000	0.32907	0.021000	0.10359	9.371000	0.97162	2.168000	0.68352	0.313000	0.20887	GAC		0.642	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		C	16980673	G	C	16980673	3	2	327	1	0	0	0	0	1	0	0	0	14329	1174	41	3	2359	3	SIN3B	19	16980673	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09	9297980	16980673	42148310	45	17528											
FASTKD5	60493	genome.wustl.edu	37	20	3127432	3127432	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr20:3127432G>T	ENST00000380266.3	-	2	2606	c.2285C>A	c.(2284-2286)tCt>tAt	p.S762Y	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	762					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TCAGAGAGCAGAGGTGAATAC	0.428																																																0			20											113	111	112					20																	3127432		2203	4300	6503	3075432	SO:0001583	missense	60493			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.2285C>A	20.37:g.3127432G>T	ENSP00000369618:p.Ser762Tyr		3075432	Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096618	0.56075	.	.	ENSG00000215251	ENST00000380266	T	0.16897	2.31	5.83	5.83	0.93111	.	0.395066	0.20905	N	0.083578	T	0.11965	0.0291	N	0.14661	0.345	0.37323	D	0.909653	P	0.46706	0.883	B	0.39876	0.312	T	0.08186	-1.0734	10	0.72032	D	0.01	.	14.2932	0.66295	0.0708:0.0:0.9292:0.0	.	762	Q7L8L6	FAKD5_HUMAN	Y	762	ENSP00000369618:S762Y	ENSP00000369618:S762Y	S	-	2	0	FASTKD5	3075432	0.987000	0.35691	0.997000	0.53966	0.979000	0.70002	2.890000	0.48609	2.750000	0.94351	0.655000	0.94253	TCT		0.428	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		T	3127432	G	T	3127432	3	4	327	1	0	0	0	0	1	0	0	0	5688	942	33	3	13	3	FASTKD5	20	3127432	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09		3127432	59898088	46	17529											
MAVS	57506	genome.wustl.edu	37	20	3838323	3838323	+	Silent	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr20:3838323C>T	ENST00000428216.2	+	3	287	c.159C>T	c.(157-159)gaC>gaT	p.D53D	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Silent_p.D53D	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	53	CARD.|Required for interaction with NLRX1.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGAACCGGGACACCCTCTGGC	0.627																																																0			20											97	87	91					20																	3838323		2203	4300	6503	3786323	SO:0001819	synonymous_variant	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.159C>T	20.37:g.3838323C>T			3786323	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	CCDS33437.1																																																																																				0.627	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		T	3838323	C	T	3838323	2	4	327	1	0	0	0	0	0	0	0	1	9338	477	17	2		2	MAVS	20	3838323	Silent	SNP	C	TCGA-29-1696-01A-01W-0633-09	710891	3838323	59187197	47	17530											
KRTAP26-1	388818	genome.wustl.edu	37	21	31691854	31691854	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr21:31691854C>G	ENST00000360542.3	-	1	753	c.500G>C	c.(499-501)aGt>aCt	p.S167T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	167						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGCCAAGCAACTCGAGGGTTG	0.557																																																0			21											197	197	197					21																	31691854		2203	4300	6503	30613725	SO:0001583	missense	388818			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.500G>C	21.37:g.31691854C>G	ENSP00000353742:p.Ser167Thr		30613725	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	C	8.758	0.922997	0.18056	.	.	ENSG00000197683	ENST00000360542	T	0.02916	4.11	5.06	3.2	0.36748	.	0.753115	0.12149	N	0.495117	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B	0.15719	0.014	B	0.14023	0.01	T	0.42344	-0.9457	10	0.56958	D	0.05	-0.2192	7.4685	0.27334	0.0:0.7394:0.1683:0.0923	.	167	Q6PEX3	KR261_HUMAN	T	167	ENSP00000353742:S167T	ENSP00000353742:S167T	S	-	2	0	KRTAP26-1	30613725	0.001000	0.12720	0.002000	0.10522	0.035000	0.12851	1.213000	0.32407	0.752000	0.32923	0.650000	0.86243	AGT		0.557	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		G	31691854	C	G	31691854	3	3	327	1	0	0	0	0	1	0	0	0	8543	565	20	3	136	3	KRTAP26-1	21	31691854	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09		31691854	16438041	48	17531											
DOPEY2	9980	genome.wustl.edu	37	21	37586824	37586824	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr21:37586824C>T	ENST00000399151.3	+	9	1184	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	RN7SL73P_ENST00000585239.1_RNA	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	367					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTTCGCGTCCTCATCAGTCT	0.403																																																0			21											128	103	111					21																	37586824		2203	4300	6503	36508694	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1099C>T	21.37:g.37586824C>T	ENSP00000382104:p.Leu367Phe		36508694	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038368	0.75617	.	.	ENSG00000142197	ENST00000399151	T	0.14766	2.48	5.57	4.67	0.58626	.	0.062217	0.64402	D	0.000003	T	0.35970	0.0950	M	0.74881	2.28	0.47341	D	0.999396	D;D	0.89917	0.999;1.0	D;D	0.71870	0.975;0.965	T	0.03662	-1.1015	10	0.45353	T	0.12	.	14.8255	0.70107	0.0:0.9299:0.0:0.0701	.	367;367	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	F	367	ENSP00000382104:L367F	ENSP00000382104:L367F	L	+	1	0	DOPEY2	36508694	1.000000	0.71417	0.996000	0.52242	0.824000	0.46624	4.079000	0.57613	2.621000	0.88768	0.655000	0.94253	CTC		0.403	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		T	37586824	C	T	37586824	3	4	327	1	0	0	0	0	1	0	0	0	4708	681	24	2	1129	2	DOPEY2	21	37586824	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09	5894970	37586824	10543071	49	17532											
ARR3	407	genome.wustl.edu	37	X	69500667	69500667	+	Splice_Site	SNP	T	T	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chrX:69500667T>A	ENST00000307959.8	+	15	1116	c.1065T>A	c.(1063-1065)caT>caA	p.H355Q	ARR3_ENST00000374495.3_Splice_Site_p.H355Q|RAB41_ENST00000374473.2_5'Flank|RAB41_ENST00000276066.4_5'Flank	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	355					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGCCATCTCATGGTGAGTGAC	0.542																																																0			X											159	114	129					X																	69500667		2203	4300	6503	69417392	SO:0001630	splice_region_variant	407				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.1066+1T>A	X.37:g.69500667T>A			69417392	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.349074	0.24426	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.12984	2.63;3.05	4.85	-9.69	0.00524	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	1.606760	0.03202	N	0.174950	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.25117	-1.0141	10	0.35671	T	0.21	.	4.2199	0.10552	0.2244:0.4055:0.0744:0.2957	.	355;355	P36575;P36575-2	ARRC_HUMAN;.	Q	355	ENSP00000363619:H355Q;ENSP00000311538:H355Q	ENSP00000311538:H355Q	H	+	3	2	ARR3	69417392	0.000000	0.05858	0.000000	0.03702	0.596000	0.36781	-2.430000	0.01024	-3.426000	0.00165	-2.131000	0.00343	CAT		0.542	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	Missense_Mutation	A	69500667	T	A	69500667	5	1	327	1	0	0	0	0	0	0	1	0	979	1478	51	5	1119	5	ARR3	23	69500667	Splice_Site	SNP	T	TCGA-29-1696-01A-01W-0633-09		69500667	85769893	50	17533											
DCAF12L2	340578	genome.wustl.edu	37	X	125298898	125298898	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chrX:125298898C>T	ENST00000360028.2	-	1	1036	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R337H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	337										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTTCTGCTGGCGCTGGCGCGG	0.622																																																0			X											55	59	57					X																	125298898		2203	4300	6503	125126579	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1010G>A	X.37:g.125298898C>T	ENSP00000353128:p.Arg337His		125126579	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	7.417	0.635902	0.14386	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63580	-0.05;-0.05	4.05	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.964031	0.08457	N	0.943000	T	0.44371	0.1290	L	0.29908	0.895	0.29364	N	0.864442	D	0.54772	0.968	B	0.38327	0.271	T	0.38286	-0.9668	10	0.40728	T	0.16	.	5.4353	0.16478	0.0:0.4876:0.3958:0.1165	.	337	Q5VW00	DC122_HUMAN	H	337	ENSP00000441489:R337H;ENSP00000353128:R337H	ENSP00000353128:R337H	R	-	2	0	DCAF12L2	125126579	0.005000	0.15991	0.248000	0.24265	0.814000	0.46013	0.315000	0.19451	0.458000	0.26988	0.544000	0.68410	CGC		0.622	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125298898	C	T	125298898	3	4	327	1	0	0	0	0	1	0	0	0	4265	768	27	1	385	1	DCAF12L2	23	125298898	Missense_Mutation	SNP	C	TCGA-29-1696-01A-01W-0633-09	55798231	125298898	29971662	51	17534											
HTATSF1	27336	genome.wustl.edu	37	X	135593897	135593897	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chrX:135593897G>C	ENST00000218364.4	+	9	2167	c.1993G>C	c.(1993-1995)Gaa>Caa	p.E665Q	HTATSF1_ENST00000535601.1_Missense_Mutation_p.E665Q	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	665	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAAGGCGGAAGAAGGTGATGC	0.398																																																0			X											171	152	159					X																	135593897		2203	4300	6503	135421563	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1993G>C	X.37:g.135593897G>C	ENSP00000218364:p.Glu665Gln		135421563	D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	2.549	-0.304492	0.05495	.	.	ENSG00000102241	ENST00000535601;ENST00000218364	T;T	0.04119	3.7;3.7	3.61	3.61	0.41365	.	0.561204	0.14613	N	0.308905	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	P	0.38395	0.629	B	0.34991	0.193	T	0.40813	-0.9543	10	0.62326	D	0.03	-0.9028	6.0973	0.20027	0.1366:0.0:0.8634:0.0	.	665	O43719	HTSF1_HUMAN	Q	665	ENSP00000442699:E665Q;ENSP00000218364:E665Q	ENSP00000218364:E665Q	E	+	1	0	HTATSF1	135421563	0.187000	0.23238	0.042000	0.18584	0.051000	0.14879	1.583000	0.36579	2.059000	0.61396	0.523000	0.50628	GAA		0.398	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		C	135593897	G	C	135593897	3	2	327	1	0	0	0	0	1	0	0	0	7433	943	33	3	2027	3	HTATSF1	23	135593897	Missense_Mutation	SNP	G	TCGA-29-1696-01A-01W-0633-09	10294999	135593897	19676663	52	17535											
PRAMEF16	654348	genome.wustl.edu	37	1	13496383	13496383	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr1:13496383G>A	ENST00000376121.3	+	2	734	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	235					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)							Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAATCTTCGCAAACTCTTT	0.443																																																0			1											1	1	1					1																	13496383		104	200	304	13368970	SO:0001583	missense	654348					1p36.21	2013-01-17			ENSG00000204488			"-"	25767	protein-coding gene	gene with protein product							Standard	NM_001045480		Approved	OTTHUMG00000002933	uc001aux.3	Q5VWM1	OTTHUMG00000002933	ENST00000376121.3:c.704G>A	1.37:g.13496383G>A	ENSP00000365289:p.Arg235His		13368970		Missense_Mutation	SNP	ENST00000376121.3	37	CCDS41259.1	.	.	.	.	.	.	.	.	.	.	G	6.922	0.539868	0.13250	.	.	ENSG00000204488	ENST00000376121	T	0.20881	2.04	1.39	-1.51	0.08664	.	1.626380	0.03452	N	0.210871	T	0.15522	0.0374	L	0.38649	1.16	0.09310	N	1	B	0.18166	0.026	B	0.16289	0.015	T	0.20140	-1.0284	10	0.27082	T	0.32	.	4.3307	0.11062	0.5714:0.0:0.4286:0.0	.	235	Q5VWM1	PRA16_HUMAN	H	235	ENSP00000365289:R235H	ENSP00000365289:R235H	R	+	2	0	PRAMEF16	13368970	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-0.043000	0.12043	-0.417000	0.07461	0.186000	0.17326	CGC		0.443	PRAMEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008178.1	NM_001045480		A	13496383	G	A	13496383	3	1	328	1	0	0	0	0	1	0	0	0	12434	1087	38	1	710	1	PRAMEF16	1	13496383	Missense_Mutation	SNP	G	TCGA-29-1697-01A-01W-0633-09		13496383	235754238	1	17536											
HSPG2	3339	genome.wustl.edu	37	1	22202222	22202222	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr1:22202222C>T	ENST00000374695.3	-	25	3281	c.3202G>A	c.(3202-3204)Gat>Aat	p.D1068N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1068	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGCTGCCCATCGGGCCGCTGC	0.652																																																0			1											72	80	77					1																	22202222		2203	4300	6503	22074809	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3202G>A	1.37:g.22202222C>T	ENSP00000363827:p.Asp1068Asn		22074809	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285962	0.80803	.	.	ENSG00000142798	ENST00000374695	T	0.35973	1.28	5.51	5.51	0.81932	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.41097	D	0.000955	T	0.59783	0.2219	M	0.68728	2.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60974	-0.7156	10	0.62326	D	0.03	.	16.8974	0.86104	0.0:1.0:0.0:0.0	.	1068	P98160	PGBM_HUMAN	N	1068	ENSP00000363827:D1068N	ENSP00000363827:D1068N	D	-	1	0	HSPG2	22074809	1.000000	0.71417	0.950000	0.38849	0.458000	0.32498	7.628000	0.83189	2.586000	0.87340	0.561000	0.74099	GAT		0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22202222	C	T	22202222	3	4	328	1	0	0	0	0	1	0	0	0	7430	884	31	1	10265	1	HSPG2	1	22202222	Missense_Mutation	SNP	C	TCGA-29-1697-01A-01W-0633-09	8705839	22202222	227048399	2	17537											
KIAA1522	57648	genome.wustl.edu	37	1	33237359	33237359	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr1:33237359C>G	ENST00000373480.1	+	6	2505	c.2402C>G	c.(2401-2403)cCg>cGg	p.P801R	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.P860R|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P812R	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	801	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGAAGGAACCGGTGGGCTGT	0.692																																																0			1											25	29	28					1																	33237359		2029	4185	6214	33009946	SO:0001583	missense	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2402C>G	1.37:g.33237359C>G	ENSP00000362579:p.Pro801Arg		33009946	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059407	0.55325	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.15603	2.41;2.43;2.45	4.53	2.64	0.31445	.	0.232503	0.29369	N	0.012342	T	0.15912	0.0383	L	0.40543	1.245	0.23416	N	0.997729	P;P;P	0.47545	0.858;0.772;0.897	B;B;P	0.44860	0.368;0.368;0.462	T	0.06643	-1.0815	10	0.62326	D	0.03	-1.9563	8.5375	0.33373	0.0:0.7643:0.0:0.2357	.	812;801;860	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	R	860;812;801	ENSP00000383851:P860R;ENSP00000362580:P812R;ENSP00000362579:P801R	ENSP00000362579:P801R	P	+	2	0	KIAA1522	33009946	0.668000	0.27493	0.117000	0.21633	0.117000	0.20001	1.279000	0.33191	0.461000	0.27071	0.650000	0.86243	CCG		0.692	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			G	33237359	C	G	33237359	3	3	328	1	0	0	0	0	1	0	0	0	8238	652	23	3	2601	3	KIAA1522	1	33237359	Missense_Mutation	SNP	C	TCGA-29-1697-01A-01W-0633-09	11035137	33237359	216013262	3	17538											
KIAA1324	57535	genome.wustl.edu	37	1	109714569	109714569	+	Silent	SNP	G	G	C			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr1:109714569G>C	ENST00000369939.3	+	4	732	c.549G>C	c.(547-549)ctG>ctC	p.L183L	KIAA1324_ENST00000529753.1_Silent_p.L183L	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	183					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCGTCAACCTGAAGCAATCTG	0.542																																																0			1											150	125	134					1																	109714569		2203	4300	6503	109516092	SO:0001819	synonymous_variant	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.549G>C	1.37:g.109714569G>C			109516092	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	CCDS794.1																																																																																				0.542	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		C	109714569	G	C	109714569	2	2	328	1	0	0	0	0	0	0	0	1	8223	1277	45	3		3	KIAA1324	1	109714569	Silent	SNP	G	TCGA-29-1697-01A-01W-0633-09	76477210	109714569	139536052	4	17539											
SYCP1	6847	genome.wustl.edu	37	1	115430307	115430307	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr1:115430307T>A	ENST00000369522.3	+	15	1491	c.1251T>A	c.(1249-1251)agT>agA	p.S417R	SYCP1_ENST00000369518.1_Missense_Mutation_p.S417R	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	417					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAATCAAGTGAGCTGGGTA	0.239																																																0			1											47	52	50					1																	115430307		2192	4272	6464	115231830	SO:0001583	missense	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1251T>A	1.37:g.115430307T>A	ENSP00000358535:p.Ser417Arg		115231830	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604731	0.28623	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56103	0.48;0.48;0.48	5.04	1.17	0.20885	.	1.171960	0.06062	N	0.658476	T	0.22551	0.0544	L	0.54323	1.7	0.27659	N	0.947149	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.18871	-1.0323	10	0.42905	T	0.14	0.0552	1.4496	0.02372	0.1668:0.0995:0.2045:0.5292	.	417;417	B7ZLS9;Q15431	.;SYCP1_HUMAN	R	417	ENSP00000358535:S417R;ENSP00000410011:S417R;ENSP00000358531:S417R	ENSP00000358531:S417R	S	+	3	2	SYCP1	115231830	0.569000	0.26643	0.995000	0.50966	0.945000	0.59286	0.591000	0.23969	0.263000	0.21812	0.491000	0.48974	AGT		0.239	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		A	115430307	T	A	115430307	3	1	328	1	0	0	0	0	1	0	0	0	15431	1693	59	5	1305	5	SYCP1	1	115430307	Missense_Mutation	SNP	T	TCGA-29-1697-01A-01W-0633-09	5715738	115430307	133820314	5	17540											
GPR89B	51463	genome.wustl.edu	37	1	147408748	147408748	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr1:147408748T>C	ENST00000314163.7	+	2	194	c.50T>C	c.(49-51)tTt>tCt	p.F17S		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	17					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)			large_intestine(1)	1	all_hematologic(923;0.0276)					CAGATACTATTTTTTGGATTT	0.303																																																0			1											130	122	125					1																	147408748		2203	4298	6501	145875372	SO:0001583	missense	51463			U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"G protein-coupled receptor 89", "G protein-coupled receptor 89C"	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.50T>C	1.37:g.147408748T>C	ENSP00000358233:p.Phe17Ser		145875372	A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000314163.7	37	CCDS930.1	.	.	.	.	.	.	.	.	.	.	t	19.21	3.784308	0.70222	.	.	ENSG00000188092	ENST00000314163	.	.	.	4.07	4.07	0.47477	.	0.000000	0.85682	U	0.000000	T	0.54319	0.1851	.	.	.	0.80722	D	1	P	0.46512	0.879	P	0.52031	0.688	T	0.58831	-0.7567	8	0.49607	T	0.09	-13.3426	12.1772	0.54192	0.0:0.0:0.0:1.0	.	17	B4DT03	.	S	17	.	ENSP00000358233:F17S	F	+	2	0	GPR89B	145875372	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.130000	0.77235	1.721000	0.51461	0.392000	0.25879	TTT		0.303	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037481.2	NM_016334		C	147408748	T	C	147408748	3	2	328	1	0	0	0	0	1	0	0	0	6719	1841	64	4	56	4	GPR89B	1	147408748	Missense_Mutation	SNP	T	TCGA-29-1697-01A-01W-0633-09	31978441	147408748	101841873	6	17541											
TSNAX	7257	genome.wustl.edu	37	1	231673019	231673019	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr1:231673019G>A	ENST00000366639.4	+	3	340	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	TSNAX_ENST00000602825.1_3'UTR|TSNAX-DISC1_ENST00000602962.1_Missense_Mutation_p.R61Q	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AAACTTAGTCGGGATATAACT	0.328																																																0			1											127	130	129					1																	231673019		2203	4300	6503	229739642	SO:0001583	missense	7257			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.182G>A	1.37:g.231673019G>A	ENSP00000355599:p.Arg61Gln		229739642	B1APC6	Missense_Mutation	SNP	ENST00000366639.4	37	CCDS1596.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159977	0.94727	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	6.08	6.08	0.98989	Translin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83478	0.5263	M	0.87381	2.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.83052	-0.0152	9	0.39692	T	0.17	.	15.7628	0.78101	0.0667:0.0:0.9333:0.0	.	61	Q99598	TSNAX_HUMAN	Q	61	.	ENSP00000355599:R61Q	R	+	2	0	TSNAX	229739642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.318000	0.96334	2.890000	0.99128	0.655000	0.94253	CGG		0.328	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		A	231673019	G	A	231673019	3	1	328	1	0	0	0	0	1	0	0	0	16631	1116	39	1	192	1	TSNAX	1	231673019	Missense_Mutation	SNP	G	TCGA-29-1697-01A-01W-0633-09	84264271	231673019	17577602	7	17542											
ERO1LB	56605	genome.wustl.edu	37	1	236389626	236389626	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr1:236389626T>G	ENST00000354619.5	-	12	1196	c.995A>C	c.(994-996)aAt>aCt	p.N332T		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	332					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TTCTTCTGCATTTCCAGTGTA	0.363																																																0			1											86	87	87					1																	236389626		2203	4300	6503	234456249	SO:0001583	missense	56605			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.995A>C	1.37:g.236389626T>G	ENSP00000346635:p.Asn332Thr		234456249	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.368725	0.61624	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.43688	0.94;0.94	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.86178	2.8	0.80722	D	1	P	0.42871	0.792	P	0.50537	0.643	T	0.63897	-0.6533	10	0.41790	T	0.15	-29.4649	15.3744	0.74593	0.0:0.0:0.0:1.0	.	332	Q86YB8	ERO1B_HUMAN	T	332;57	ENSP00000346635:N332T;ENSP00000264181:N57T	ENSP00000264181:N57T	N	-	2	0	ERO1LB	234456249	1.000000	0.71417	0.883000	0.34634	0.899000	0.52679	3.941000	0.56607	2.028000	0.59812	0.472000	0.43445	AAT		0.363	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		G	236389626	T	G	236389626	3	3	328	1	0	0	0	0	1	0	0	0	5240	1493	52	5	428	5	ERO1LB	1	236389626	Missense_Mutation	SNP	T	TCGA-29-1697-01A-01W-0633-09	4716607	236389626	12860995	8	17543											
RAB11FIP5	26056	genome.wustl.edu	37	2	73303220	73303220	+	Silent	SNP	G	G	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr2:73303220G>A	ENST00000258098.6	-	4	1899	c.1659C>T	c.(1657-1659)agC>agT	p.S553S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	553					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCAGCCCACTGCTCAGGGCTA	0.632																																																0			2											140	143	142					2																	73303220		2203	4300	6503	73156728	SO:0001819	synonymous_variant	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1659C>T	2.37:g.73303220G>A			73156728	O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	CCDS1923.1																																																																																				0.632	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		A	73303220	G	A	73303220	2	1	328	1	0	0	0	0	0	0	0	1	12900	1310	46	2		2	RAB11FIP5	2	73303220	Silent	SNP	G	TCGA-29-1697-01A-01W-0633-09		73303220	169896153	9	17544											
CNTNAP5	129684	genome.wustl.edu	37	2	125555828	125555828	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr2:125555828G>T	ENST00000431078.1	+	19	3509	c.3145G>T	c.(3145-3147)Gca>Tca	p.A1049S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1049	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAACCCAGGCACCCAGTCT	0.453																																																0			2											161	156	157					2																	125555828		1967	4148	6115	125272298	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3145G>T	2.37:g.125555828G>T	ENSP00000399013:p.Ala1049Ser		125272298	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	3.959	-0.010668	0.07727	.	.	ENSG00000155052	ENST00000431078	T	0.37752	1.18	5.92	1.46	0.22682	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.435748	0.18778	N	0.131402	T	0.22820	0.0551	L	0.35414	1.06	0.09310	N	1	P	0.35363	0.497	B	0.34038	0.174	T	0.17531	-1.0366	10	0.13853	T	0.58	.	10.1538	0.42809	0.244:0.0:0.6552:0.1007	.	1049	Q8WYK1	CNTP5_HUMAN	S	1049	ENSP00000399013:A1049S	ENSP00000399013:A1049S	A	+	1	0	CNTNAP5	125272298	0.165000	0.22948	0.035000	0.18076	0.534000	0.34807	0.410000	0.21098	0.103000	0.17682	-0.813000	0.03139	GCA		0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125555828	G	T	125555828	3	4	328	1	0	0	0	0	1	0	0	0	3650	1203	42	3	3219	3	CNTNAP5	2	125555828	Missense_Mutation	SNP	G	TCGA-29-1697-01A-01W-0633-09	52252608	125555828	117643545	10	17545											
FMNL2	114793	genome.wustl.edu	37	2	153485024	153485024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr2:153485024G>T	ENST00000475377.2	+	5	702	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	FMNL2_ENST00000288670.9_Nonsense_Mutation_p.E793*			Q96PY5	FMNL2_HUMAN	formin-like 2	793	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAACTTTGCTGAAAGCATTCA	0.448																																																0			2											106	109	108					2																	153485024		2132	4253	6385	153193270	SO:0001587	stop_gained	114793			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.502G>T	2.37:g.153485024G>T	ENSP00000418959:p.Glu168*		153193270	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Nonsense_Mutation	SNP	ENST00000475377.2	37		.	.	.	.	.	.	.	.	.	.	G	39	7.357049	0.98235	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	.	.	.	5.31	5.31	0.75309	.	0.132599	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.1722	0.93583	0.0:0.0:1.0:0.0	.	.	.	.	X	793;274;168	.	ENSP00000288670:E793X	E	+	1	0	FMNL2	153193270	1.000000	0.71417	0.763000	0.31416	0.998000	0.95712	9.629000	0.98417	2.763000	0.94921	0.563000	0.77884	GAA		0.448	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905		T	153485024	G	T	153485024	4	4	328	1	0	0	0	0	0	1	0	0	5952	1291	45	3	2447	3	FMNL2	2	153485024	Nonsense_Mutation	SNP	G	TCGA-29-1697-01A-01W-0633-09	27929196	153485024	89714349	11	17546											
INO80D	54891	genome.wustl.edu	37	2	206870074	206870074	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr2:206870074C>A	ENST00000403263.1	-	11	2506	c.2102G>T	c.(2101-2103)gGa>gTa	p.G701V	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	701					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGATTGTATTCCTGAAGCTCC	0.488																																																0			2											125	115	118					2																	206870074		1930	4130	6060	206578319	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2102G>T	2.37:g.206870074C>A	ENSP00000384198:p.Gly701Val		206578319	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	3.624	-0.077039	0.07184	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.32988	1.43	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	N	0.00926	-1.1	0.80722	D	1	B	0.26483	0.15	B	0.23852	0.049	T	0.23048	-1.0199	10	0.32370	T	0.25	.	14.4709	0.67517	0.1469:0.8531:0.0:0.0	.	701	Q53TQ3-2	.	V	701	ENSP00000384198:G701V	ENSP00000233270:G701V	G	-	2	0	INO80D	206578319	1.000000	0.71417	0.990000	0.47175	0.175000	0.22909	3.632000	0.54287	2.636000	0.89361	0.591000	0.81541	GGA		0.488	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		A	206870074	C	A	206870074	3	1	328	1	0	0	0	0	1	0	0	0	7749	855	30	3	985	3	INO80D	2	206870074	Missense_Mutation	SNP	C	TCGA-29-1697-01A-01W-0633-09	53385050	206870074	36329299	12	17547											
ZDBF2	57683	genome.wustl.edu	37	2	207175370	207175370	+	Missense_Mutation	SNP	C	C	T	rs201802013	byFrequency	TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr2:207175370C>T	ENST00000374423.3	+	5	6504	c.6118C>T	c.(6118-6120)Cgg>Tgg	p.R2040W		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2040							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAATGATATTCGGTTTATATG	0.353													C|||	2	0.000399361	0	0	5008	,	,		19819	0		0.002	False		,,,				2504	0															0			2						C	TRP/ARG	1,3647		0,1,1823	25	24	24		6118	3.8	0	2		24	20,8132		0,20,4056	yes	missense	ZDBF2	NM_020923.1	101	0,21,5879	TT,TC,CC		0.2453,0.0274,0.178	benign	2040/2355	207175370	21,11779	1824	4076	5900	206883615	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6118C>T	2.37:g.207175370C>T	ENSP00000363545:p.Arg2040Trp		206883615	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027464	0.35797	2.74E-4	0.002453	ENSG00000204186	ENST00000374423	T	0.46819	0.86	5.79	3.82	0.43975	.	.	.	.	.	T	0.23572	0.0570	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	B	0.36504	0.226	T	0.12785	-1.0534	9	0.62326	D	0.03	.	3.494	0.07648	0.2768:0.5183:0.1158:0.0891	.	2040	Q9HCK1	ZDBF2_HUMAN	W	2040	ENSP00000363545:R2040W	ENSP00000363545:R2040W	R	+	1	2	ZDBF2	206883615	0.000000	0.05858	0.007000	0.13788	0.034000	0.12701	0.491000	0.22419	1.434000	0.47414	0.563000	0.77884	CGG		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		T	207175370	C	T	207175370	3	4	328	1	0	0	0	0	1	0	0	0	17599	875	31	1	6128	1	ZDBF2	2	207175370	Missense_Mutation	SNP	C	TCGA-29-1697-01A-01W-0633-09	305296	207175370	36024003	13	17548											
SP100	6672	genome.wustl.edu	37	2	231404024	231404024	+	Missense_Mutation	SNP	C	C	T	rs199971910	byFrequency	TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr2:231404024C>T	ENST00000340126.4	+	25	2168	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAAATGGGGACGGCTGTTCTG	0.498													C|||	2	0.000399361	0	0	5008	,	,		21099	0		0.002	False		,,,				2504	0															0			2						C	TRP/ARG	1,4117		0,1,2058	129	133	132		2137	-8.5	0	2		132	28,8376		0,28,4174	yes	missense	SP100	NM_001080391.1	101	0,29,6232	TT,TC,CC		0.3332,0.0243,0.2316	possibly-damaging	713/886	231404024	29,12493	2059	4202	6261	231112268	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2137C>T	2.37:g.231404024C>T	ENSP00000343023:p.Arg713Trp		231112268	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	CCDS42832.1	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	9.927|9.927	1.213851|1.213851	0.22289|0.22289	2.43E-4|2.43E-4	0.003332|0.003332	ENSG00000067066|ENSG00000067066	ENST00000340126;ENST00000414648|ENST00000431952	D|.	0.85013|.	-1.93|.	4.24|4.24	-8.48|-8.48	0.00935|0.00935	.|.	.|.	.|.	.|.	.|.	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;D|.	0.56968|.	0.296;0.978|.	B;B|.	0.43916|.	0.122;0.436|.	T|T	0.21518|0.21518	-1.0243|-1.0243	9|5	0.49607|.	T|.	0.09|.	.|.	7.2749|7.2749	0.26279|0.26279	0.1355:0.6002:0.1598:0.1045|0.1355:0.6002:0.1598:0.1045	.|.	183;713|.	E9PHN1;P23497-4|.	.;.|.	W|M	713;183|86	ENSP00000343023:R713W|.	ENSP00000343023:R713W|.	R|T	+|+	1|2	2|0	SP100|SP100	231112268|231112268	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-2.490000|-2.490000	0.00975|0.00975	-2.504000|-2.504000	0.00508|0.00508	-1.194000|-1.194000	0.01681|0.01681	CGG|ACG		0.498	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113		T	231404024	C	T	231404024	3	4	328	1	0	0	0	0	1	0	0	0	14963	527	19	1	2785	1	SP100	2	231404024	Missense_Mutation	SNP	C	TCGA-29-1697-01A-01W-0633-09	24228654	231404024	11795349	14	17549											
THOC7	80145	genome.wustl.edu	37	3	63824071	63824071	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr3:63824071T>A	ENST00000295899.5	-	3	354	c.242A>T	c.(241-243)tAt>tTt	p.Y81F	THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	81	Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		AATTTTTTCATAATTTTCCAT	0.303																																					Colon(48;665 1127 6720 18651)											0			3											35	36	36					3																	63824071		2199	4293	6492	63799111	SO:0001583	missense	80145			BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"THO complex subunits"	29874	protein-coding gene	gene with protein product	"Ngg1 interacting factor 3 like 1 binding protein 1", "functional spliceosome-associated protein 24"	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.242A>T	3.37:g.63824071T>A	ENSP00000295899:p.Tyr81Phe		63799111	Q6P1L3|Q8WUF2|Q9H5H0	Missense_Mutation	SNP	ENST00000295899.5	37	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.928053	0.92389	.	.	ENSG00000163634	ENST00000295899	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77046	-0.2733	9	0.46703	T	0.11	-1.4079	15.884	0.79226	0.0:0.0:0.0:1.0	.	81	Q6I9Y2	THOC7_HUMAN	F	81	.	ENSP00000295899:Y81F	Y	-	2	0	THOC7	63799111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.004000	0.88535	2.158000	0.67659	0.377000	0.23210	TAT		0.303	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		A	63824071	T	A	63824071	3	1	328	1	0	0	0	0	1	0	0	0	15870	1406	49	5	396	5	THOC7	3	63824071	Missense_Mutation	SNP	T	TCGA-29-1697-01A-01W-0633-09		63824071	134198359	15	17550											
KPNA1	3836	genome.wustl.edu	37	3	122168481	122168481	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr3:122168481T>C	ENST00000344337.6	-	9	1033	c.857A>G	c.(856-858)aAt>aGt	p.N286S	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	286	Binding to RAG1.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AATTTTATCATTGGGTCCATC	0.458																																					Melanoma(12;340 801 11196 19797)											0			3											85	79	81					3																	122168481		2203	4300	6503	123651171	SO:0001583	missense	3836			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.857A>G	3.37:g.122168481T>C	ENSP00000343701:p.Asn286Ser		123651171	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799954	0.90538	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	T;T	0.68025	-0.3;-0.3	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	M	0.82517	2.595	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	T	0.83320	-0.0018	10	0.59425	D	0.04	-15.946	14.2384	0.65941	0.0:0.0:0.0:1.0	.	286	P52294	IMA1_HUMAN	S	286	ENSP00000343701:N286S;ENSP00000419890:N286S	ENSP00000343701:N286S	N	-	2	0	KPNA1	123651171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.137000	0.66172	0.460000	0.39030	AAT		0.458	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		C	122168481	T	C	122168481	3	2	328	1	0	0	0	0	1	0	0	0	8429	1493	52	4	783	4	KPNA1	3	122168481	Missense_Mutation	SNP	T	TCGA-29-1697-01A-01W-0633-09	58344410	122168481	75853949	16	17551											
TBC1D19	55296	genome.wustl.edu	37	4	26721734	26721734	+	Silent	SNP	T	T	C			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr4:26721734T>C	ENST00000264866.4	+	15	1349	c.1071T>C	c.(1069-1071)ttT>ttC	p.F357F	TBC1D19_ENST00000511789.1_Silent_p.F292F	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	357	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ATGCTGTCTTTTACCCACCAA	0.284																																																0			4											77	83	81					4																	26721734		2203	4295	6498	26330832	SO:0001819	synonymous_variant	55296			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1071T>C	4.37:g.26721734T>C			26330832	B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	CCDS3439.1																																																																																				0.284	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		C	26721734	T	C	26721734	2	2	328	1	0	0	0	0	0	0	0	1	15607	1838	64	4		4	TBC1D19	4	26721734	Silent	SNP	T	TCGA-29-1697-01A-01W-0633-09		26721734	164432542	17	17552											
TLR6	10333	genome.wustl.edu	37	4	38829026	38829026	+	Missense_Mutation	SNP	T	T	G	rs114855575	byFrequency	TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr4:38829026T>G	ENST00000381950.1	-	1	2134	c.2069A>C	c.(2068-2070)aAc>aCc	p.N690T	TLR6_ENST00000436693.2_Missense_Mutation_p.N690T			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	690	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		N -> T (impairs the ability to induce NF- kappa-B activation; dbSNP:rs114855575). {ECO:0000269|PubMed:21618349}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCAATGCAGTTGATGATATT	0.388													T|||	6	0.00119808	0.0045	0	5008	,	,		22092	0		0	False		,,,				2504	0															0			4	GRCh37	CM076561	TLR6	M	rs114855575	T	THR/ASN	46,4360	48.9+/-83.8	0,46,2157	161	157	158		2069	3.6	0.9	4	dbSNP_132	158	0,8600		0,0,4300	no	missense	TLR6	NM_006068.4	65	0,46,6457	GG,GT,TT		0.0,1.044,0.3537	benign	690/797	38829026	46,12960	2203	4300	6503	38505421	SO:0001583	missense	10333				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.2069A>C	4.37:g.38829026T>G	ENSP00000371376:p.Asn690Thr		38505421	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	T	10.88	1.474541	0.26511	0.01044	0.0	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.07908	3.15;3.15	4.79	3.57	0.40892	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.211881	0.40640	N	0.001051	T	0.07503	0.0189	L	0.58583	1.82	0.33881	D	0.636114	B	0.23128	0.08	B	0.24701	0.055	T	0.04693	-1.0933	10	0.51188	T	0.08	.	11.2356	0.48938	0.0:0.0:0.1538:0.8461	.	690	Q9Y2C9	TLR6_HUMAN	T	690	ENSP00000389600:N690T;ENSP00000371376:N690T	ENSP00000371376:N690T	N	-	2	0	TLR6	38505421	0.581000	0.26741	0.926000	0.36857	0.987000	0.75469	0.837000	0.27558	0.820000	0.34516	0.459000	0.35465	AAC		0.388	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			G	38829026	T	G	38829026	3	3	328	1	0	0	0	0	1	0	0	0	15955	1725	60	5	325	5	TLR6	4	38829026	Missense_Mutation	SNP	T	TCGA-29-1697-01A-01W-0633-09	12107292	38829026	152325250	18	17553											
SLC17A1	6568	genome.wustl.edu	37	6	25826701	25826701	+	Silent	SNP	C	C	G			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr6:25826701C>G	ENST00000244527.4	-	3	310	c.195G>C	c.(193-195)ctG>ctC	p.L65L	SLC17A1_ENST00000468082.1_Silent_p.L65L|SLC17A1_ENST00000427328.1_Silent_p.L65L|SLC17A1_ENST00000476801.1_Silent_p.L65L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	65					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TTATATTATCCAGGAGCTTCT	0.398																																																0			6											173	163	166					6																	25826701		2203	4300	6503	25934680	SO:0001819	synonymous_variant	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.195G>C	6.37:g.25826701C>G			25934680	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	ENST00000244527.4	37	CCDS4565.1																																																																																				0.398	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			G	25826701	C	G	25826701	2	3	328	1	0	0	0	0	0	0	0	1	14419	581	21	3		3	SLC17A1	6	25826701	Silent	SNP	C	TCGA-29-1697-01A-01W-0633-09		25826701	145288366	19	17554											
MLLT4	4301	genome.wustl.edu	37	6	168299145	168299146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr6:168299145_168299146insG	ENST00000447894.2	+	11	1578_1579	c.1578_1579insG	c.(1579-1581)ggafs	p.G527fs	MLLT4_ENST00000400822.3_Frame_Shift_Ins_p.G526fs|MLLT4_ENST00000392108.3_Frame_Shift_Ins_p.G527fs|MLLT4_ENST00000351017.4_Frame_Shift_Ins_p.G527fs|MLLT4_ENST00000344191.4_Frame_Shift_Ins_p.G527fs|MLLT4_ENST00000366806.2_Frame_Shift_Ins_p.G527fs|MLLT4_ENST00000392112.1_Frame_Shift_Ins_p.G511fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	527					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GACATAAACCTGGGTAAATAGA	0.351			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0			6																																								168041995	SO:0001589	frameshift_variant	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1580dupG	6.37:g.168299148_168299148dupG	ENSP00000404595:p.Gly527fs		168041994	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Ins	INS	ENST00000447894.2	37																																																																																					0.351	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		G	168299146	-	G	168299145	7	5	328	1	0	1	1	0	0	0	0	0	9629	1567	55	0	1620	0	MLLT4	6	168299145	Frame_Shift_Ins	INS	-	TCGA-29-1697-01A-01W-0633-09	142472444	168299145	2815922	20	17555											
ZAN	7455	genome.wustl.edu	37	7	100350330	100350330	+	RNA	SNP	C	C	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr7:100350330C>A	ENST00000348028.3	+	0	2767				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACT	0.483																																																0			7											273	311	299					7																	100350330		1862	4109	5971	100188266			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350330C>A			100188266	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	a	3.609	-0.079913	0.07141	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.56941	0.43;0.43;0.43	3.31	-6.62	0.01813	.	0.825977	0.09857	N	0.746823	T	0.19765	0.0475	N	0.03608	-0.345	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09618	-1.0666	10	0.46703	T	0.11	.	1.7495	0.02969	0.3099:0.3634:0.0922:0.2346	.	868;868	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	868	ENSP00000445943:P868T;ENSP00000445091:P868T;ENSP00000444427:P868T	ENSP00000423579:P868T	P	+	1	0	ZAN	100188266	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.675000	0.01947	-1.490000	0.01842	-1.583000	0.00853	CCA		0.483	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100350330	C	A	100350330	1	1	328	0	1	0	0	0	0	0	0	0	17513	623	22	3		3	ZAN	7	100350330	RNA	SNP	C	TCGA-29-1697-01A-01W-0633-09		100350330	58788333	21	17556											
CHD7	55636	genome.wustl.edu	37	8	61750674	61750674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr8:61750674C>T	ENST00000423902.2	+	19	4872	c.4393C>T	c.(4393-4395)Cga>Tga	p.R1465*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1465					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGATCTTCTACGAAAAGGGGC	0.373																																																0			8	GRCh37	CM060211	CHD7	M							43	39	40					8																	61750674		1841	4076	5917	61913228	SO:0001587	stop_gained	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4393C>T	8.37:g.61750674C>T	ENSP00000392028:p.Arg1465*		61913228	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	47	13.501862	0.99746	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	.	.	.	5.32	5.32	0.75619	.	0.074228	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1997	15.0364	0.71751	0.1427:0.8573:0.0:0.0	.	.	.	.	X	1465	.	ENSP00000307304:R1465X	R	+	1	2	CHD7	61913228	0.970000	0.33590	0.486000	0.27416	0.999000	0.98932	2.404000	0.44539	2.660000	0.90430	0.655000	0.94253	CGA		0.373	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		T	61750674	C	T	61750674	4	4	328	1	0	0	0	0	0	1	0	0	3330	528	19	1	4463	1	CHD7	8	61750674	Nonsense_Mutation	SNP	C	TCGA-29-1697-01A-01W-0633-09		61750674	84613348	22	17557											
CYP11B2	1585	genome.wustl.edu	37	8	143998503	143998503	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr8:143998503G>A	ENST00000323110.2	-	2	369	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	123					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R123C(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TTGTGCCCACGATGTTGTCTG	0.612									Familial Hyperaldosteronism type I																																							1	Substitution - Missense(1)	large_intestine(1)	8											176	131	146					8																	143998503		2203	4300	6503	143995505	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.367C>T	8.37:g.143998503G>A	ENSP00000325822:p.Arg123Cys		143995505	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	13.16	2.154245	0.38021	.	.	ENSG00000179142	ENST00000323110	T	0.69175	-0.38	3.9	3.03	0.35002	.	0.145050	0.31963	N	0.006787	T	0.68044	0.2958	M	0.76838	2.35	0.31530	N	0.661336	P	0.41624	0.757	B	0.43680	0.427	T	0.73597	-0.3932	10	0.62326	D	0.03	.	9.2266	0.37410	0.1089:0.0:0.8911:0.0	.	123	P19099	C11B2_HUMAN	C	123	ENSP00000325822:R123C	ENSP00000325822:R123C	R	-	1	0	CYP11B2	143995505	0.122000	0.22280	0.002000	0.10522	0.213000	0.24496	1.575000	0.36493	0.855000	0.35359	0.557000	0.71058	CGT		0.612	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			A	143998503	G	A	143998503	3	1	328	1	0	0	0	0	1	0	0	0	4146	1058	37	1	1176	1	CYP11B2	8	143998503	Missense_Mutation	SNP	G	TCGA-29-1697-01A-01W-0633-09	82247829	143998503	2365519	23	17558											
C5	727	genome.wustl.edu	37	9	123751964	123751964	+	Silent	SNP	C	C	T			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr9:123751964C>T	ENST00000223642.1	-	24	3065	c.3036G>A	c.(3034-3036)ctG>ctA	p.L1012L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1012					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CAACGCTCATCAGCTCCGCCT	0.438																																																0			9											77	75	76					9																	123751964		2203	4300	6503	122791785	SO:0001819	synonymous_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3036G>A	9.37:g.123751964C>T			122791785	Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	CCDS6826.1																																																																																				0.438	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		T	123751964	C	T	123751964	2	4	328	1	0	0	0	0	0	0	0	1	2280	813	29	2		2	C5	9	123751964	Silent	SNP	C	TCGA-29-1697-01A-01W-0633-09		123751964	17461467	24	17559											
ENG	2022	genome.wustl.edu	37	9	130592101	130592101	+	Silent	SNP	C	C	T	rs116146060	byFrequency	TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr9:130592101C>T	ENST00000373203.4	-	3	625	c.225G>A	c.(223-225)ccG>ccA	p.P75P	Y_RNA_ENST00000410489.1_RNA|ENG_ENST00000344849.3_Silent_p.P75P	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	75	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCAGCTGTGACGGGCCCTGGG	0.557									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				c|||	14	0.00279553	0.0106	0	5008	,	,		19660	0		0	False		,,,				2504	0															0			9						T	,	13,4393	20.2+/-43.8	0,13,2190	80	73	75		225,225	0.7	0	9	dbSNP_132	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ENG	NM_000118.2,NM_001114753.1	,	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	,	75/626,75/659	130592101	13,12993	2203	4300	6503	129631922	SO:0001819	synonymous_variant	2022	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.225G>A	9.37:g.130592101C>T			129631922	Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	CCDS48029.1																																																																																				0.557	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			T	130592101	C	T	130592101	2	4	328	1	0	0	0	0	0	0	0	1	5117	523	19	1		1	ENG	9	130592101	Silent	SNP	C	TCGA-29-1697-01A-01W-0633-09	6840137	130592101	10621330	25	17560											
C10orf55	414236	genome.wustl.edu	37	10	75671455	75671455	+	Silent	SNP	G	G	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr10:75671455G>A	ENST00000409178.1	-	5	784	c.444C>T	c.(442-444)acC>acT	p.T148T	PLAU_ENST00000446342.1_5'UTR|PLAU_ENST00000372764.3_Intron|PLAU_ENST00000372762.4_Intron|C10orf55_ENST00000412307.2_Silent_p.T148T|PLAU_ENST00000494287.1_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	148										endometrium(1)	1	Prostate(51;0.0112)					AGGGAGCTGGGGTCCTCCGGA	0.632																																																0			10											31	38	35					10																	75671455		1327	2309	3636	75341461	SO:0001819	synonymous_variant	414236				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.444C>T	10.37:g.75671455G>A			75341461	Q3KRG4|Q8NAK4	Silent	SNP	ENST00000409178.1	37	CCDS53541.1																																																																																				0.632	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		A	75671455	G	A	75671455	2	1	328	1	0	0	0	0	0	0	0	1	1608	1219	43	2		2	C10orf55	10	75671455	Silent	SNP	G	TCGA-29-1697-01A-01W-0633-09		75671455	59863292	26	17561											
APBB1	322	genome.wustl.edu	37	11	6424974	6424974	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr11:6424974C>A	ENST00000609360.1	-	3	899	c.800G>T	c.(799-801)gGg>gTg	p.G267V	APBB1_ENST00000530885.1_Missense_Mutation_p.G47V|APBB1_ENST00000608394.1_Missense_Mutation_p.G8V|APBB1_ENST00000311051.3_Missense_Mutation_p.G267V|APBB1_ENST00000389906.2_Missense_Mutation_p.G267V|APBB1_ENST00000608655.1_Missense_Mutation_p.G47V|APBB1_ENST00000608704.1_Missense_Mutation_p.G8V|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.G267V|APBB1_ENST00000608645.1_Missense_Mutation_p.G8V|APBB1_ENST00000609331.1_Missense_Mutation_p.G32V	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	267	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTAATAGGTCCCTGAGGTGTC	0.652																																					GBM(147;1810 2556 5672 39622)											0			11											79	76	77					11																	6424974		2201	4296	6497	6381550	SO:0001583	missense	322			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.800G>T	11.37:g.6424974C>A	ENSP00000477213:p.Gly267Val		6381550	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.583066	0.86748	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	D;D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55;-1.59	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000001	D	0.96658	0.8909	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.996	D	0.97103	0.9799	10	0.87932	D	0	-26.2811	14.7818	0.69772	0.0:1.0:0.0:0.0	.	116;32;47;267	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	V	267;267;267;116;8;32;47;8	ENSP00000299402:G267V;ENSP00000311912:G267V;ENSP00000374556:G267V;ENSP00000433338:G47V;ENSP00000437114:G8V	ENSP00000299402:G267V	G	-	2	0	APBB1	6381550	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.537000	0.82033	2.337000	0.79520	0.313000	0.20887	GGG		0.652	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		A	6424974	C	A	6424974	3	1	328	1	0	0	0	0	1	0	0	0	759	623	22	3	1380	3	APBB1	11	6424974	Missense_Mutation	SNP	C	TCGA-29-1697-01A-01W-0633-09		6424974	128581542	27	17562											
CNOT2	4848	genome.wustl.edu	37	12	70704723	70704723	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr12:70704723G>T	ENST00000418359.3	+	4	548	c.97G>T	c.(97-99)Gtc>Ttc	p.V33F	CNOT2_ENST00000229195.3_Missense_Mutation_p.V33F	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	33					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TGTAGAGGGGGTCGACAGTGA	0.358																																																0			12											98	96	97					12																	70704723		2203	4299	6502	68990990	SO:0001583	missense	4848			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.97G>T	12.37:g.70704723G>T	ENSP00000412091:p.Val33Phe		68990990	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770465	0.69992	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000551132;ENST00000552915;ENST00000552483;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000547867;ENST00000550194	T;T;T;T	0.48836	0.8;0.8;0.82;0.8	6.14	6.14	0.99180	.	0.053037	0.85682	D	0.000000	T	0.38799	0.1054	L	0.29908	0.895	0.80722	D	1	P	0.44877	0.845	B	0.39379	0.298	T	0.09574	-1.0668	10	0.13853	T	0.58	-3.0852	20.819	0.99723	0.0:0.0:1.0:0.0	.	33	Q9NZN8	CNOT2_HUMAN	F	33;33;33;33;13;33;24;13;24;33;33;24;33	ENSP00000229195:V33F;ENSP00000412091:V33F;ENSP00000449659:V24F;ENSP00000449260:V33F	ENSP00000229195:V33F	V	+	1	0	CNOT2	68990990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.292000	0.65673	2.927000	0.99377	0.637000	0.83480	GTC		0.358	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			T	70704723	G	T	70704723	3	4	328	1	0	0	0	0	1	0	0	0	3619	1261	44	3	103	3	CNOT2	12	70704723	Missense_Mutation	SNP	G	TCGA-29-1697-01A-01W-0633-09		70704723	63147172	28	17563											
NALCN	259232	genome.wustl.edu	37	13	101725994	101725994	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr13:101725994G>A	ENST00000251127.6	-	37	4220	c.4139C>T	c.(4138-4140)aCc>aTc	p.T1380I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1380					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAACAGTACGGTAATAGCTTT	0.348																																																0			13											91	82	85					13																	101725994		2203	4300	6503	100523995	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4139C>T	13.37:g.101725994G>A	ENSP00000251127:p.Thr1380Ile		100523995	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750204	0.49257	.	.	ENSG00000102452	ENST00000251127	D	0.97256	-4.31	5.75	5.75	0.90469	Ion transport (1);	0.044116	0.85682	D	0.000000	D	0.85894	0.5803	N	0.00125	-2.05	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.83064	-0.0146	10	0.12430	T	0.62	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	1380	Q8IZF0	NALCN_HUMAN	I	1380	ENSP00000251127:T1380I	ENSP00000251127:T1380I	T	-	2	0	NALCN	100523995	1.000000	0.71417	0.871000	0.34182	0.996000	0.88848	9.837000	0.99465	2.716000	0.92895	0.655000	0.94253	ACC		0.348	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101725994	G	A	101725994	3	1	328	1	0	0	0	0	1	0	0	0	10148	1261	44	2	1109	2	NALCN	13	101725994	Missense_Mutation	SNP	G	TCGA-29-1697-01A-01W-0633-09		101725994	13443884	29	17564											
FGF14	2259	genome.wustl.edu	37	13	102375268	102375268	+	Silent	SNP	C	C	T			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr13:102375268C>T	ENST00000376143.4	-	5	656	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Silent_p.P224P	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	219					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCCAGGCTTCGGGACCGTTT	0.478																																																0			13											233	182	199					13																	102375268		2203	4300	6503	101173269	SO:0001819	synonymous_variant	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.657G>A	13.37:g.102375268C>T			101173269	Q86YN7|Q96QX6	Silent	SNP	ENST00000376143.4	37	CCDS9501.1																																																																																				0.478	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			T	102375268	C	T	102375268	2	4	328	1	0	0	0	0	0	0	0	1	5843	871	31	1		1	FGF14	13	102375268	Silent	SNP	C	TCGA-29-1697-01A-01W-0633-09	649274	102375268	12794610	30	17565											
FANCM	57697	genome.wustl.edu	37	14	45633736	45633748	+	Frame_Shift_Del	DEL	GTTATTATCCTTT	GTTATTATCCTTT	-	rs147805461	byFrequency	TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	GTTATTATCCTTT	GTTATTATCCTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr14:45633736_45633748delGTTATTATCCTTT	ENST00000267430.5	+	10	1841_1853	c.1756_1768delGTTATTATCCTTT	c.(1756-1770)gttattatcctttctfs	p.VIILS586fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.VIILS560fs|FANCM_ENST00000556036.1_Frame_Shift_Del_p.VIILS586fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	586	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGGCAGGATAGTTATTATCCTTTCTGAAGGACG	0.399								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0			14																																								44703498	SO:0001589	frameshift_variant	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1756_1768delGTTATTATCCTTT	14.37:g.45633736_45633748delGTTATTATCCTTT	ENSP00000267430:p.Val586fs		44703486	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	ENST00000267430.5	37	CCDS32070.1																																																																																				0.399	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		-	45633748	GTTATTATCCTTT	-	45633736	7	5	328	1	0	1	0	1	0	0	0	0	5671	1029	36	0	1794	0	FANCM	14	45633736	Frame_Shift_Del	DEL	GTTATTATCCTTT	TCGA-29-1697-01A-01W-0633-09		45633736	61715804	31	17566											
C14orf101	54916	genome.wustl.edu	37	14	57101641	57101654	+	Frame_Shift_Del	DEL	TGTGGCCAATGAAG	TGTGGCCAATGAAG	-	rs150375138		TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	TGTGGCCAATGAAG	TGTGGCCAATGAAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr14:57101641_57101654delTGTGGCCAATGAAG	ENST00000261556.6	+	14	1871_1884	c.1749_1762delTGTGGCCAATGAAG	c.(1747-1764)tctgtggccaatgaagaafs	p.VANEE584fs	TMEM260_ENST00000538838.1_3'UTR|RP11-1085N6.2_ENST00000555924.1_RNA|RP11-1085N6.2_ENST00000553800.1_RNA|TMEM260_ENST00000536419.1_Frame_Shift_Del_p.VANEE118fs	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	584						integral component of membrane (GO:0016021)											CTTGGGAATCTGTGGCCAATGAAGAAATGTGGCA	0.36																																																0			14																																								56171407	SO:0001589	frameshift_variant	54916			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1749_1762delTGTGGCCAATGAAG	14.37:g.57101641_57101654delTGTGGCCAATGAAG	ENSP00000261556:p.Val584fs		56171394	A8KAN4|B3KPF5|Q86XE1	Frame_Shift_Del	DEL	ENST00000261556.6	37	CCDS9727.2																																																																																				0.36	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		-	57101654	TGTGGCCAATGAAG	-	57101641	7	5	328	1	0	1	0	1	0	0	0	0	1734	1567	55	0	1803	0	C14orf101	14	57101641	Frame_Shift_Del	DEL	TGTGGCCAATGAAG	TCGA-29-1697-01A-01W-0633-09	11467905	57101641	50247899	32	17567											
GOLGA6B	55889	genome.wustl.edu	37	15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	rs201618622	byFrequency	TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521															4	Substitution - Missense(4)	skin(2)|lung(1)|endometrium(1)	15											81	81	81					15																	72954797		2063	3889	5952	70741851	SO:0001583	missense	55889				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala		70741851	A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		C	72954797	T	C	72954797	3	2	328	1	0	0	0	0	1	0	0	0	6558	1696	59	4	1094	4	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-29-1697-01A-01W-0633-09		72954797	29576595	33	17568											
SCAPER	49855	genome.wustl.edu	37	15	77057343	77057343	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr15:77057343G>A	ENST00000563290.1	-	14	1779	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	SCAPER_ENST00000538941.2_Missense_Mutation_p.R316C|SCAPER_ENST00000324767.7_Missense_Mutation_p.R562C			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	562	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTCTCTTCGCGTAACTTTTCC	0.328																																																0			15											108	92	97					15																	77057343		1804	4062	5866	74844398	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1684C>T	15.37:g.77057343G>A	ENSP00000454973:p.Arg562Cys		74844398	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983349	0.74474	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25250	1.82;1.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.967	T	0.15464	-1.0436	10	0.72032	D	0.01	.	14.7722	0.69688	0.0:0.0:0.8557:0.1443	.	583;316	Q9BY12-2;F5H7X8	.;.	C	562;316;584	ENSP00000326924:R562C;ENSP00000442190:R316C	ENSP00000303560:R584C	R	-	1	0	SCAPER	74844398	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.996000	0.57009	2.724000	0.93272	0.462000	0.41574	CGC		0.328	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		A	77057343	G	A	77057343	3	1	328	1	0	0	0	0	1	0	0	0	13881	1145	40	1	2594	1	SCAPER	15	77057343	Missense_Mutation	SNP	G	TCGA-29-1697-01A-01W-0633-09	4102546	77057343	25474049	34	17569											
TP53	7157	genome.wustl.edu	37	17	7577569	7577569	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr17:7577569A>C	ENST00000269305.4	-	7	901	c.712T>G	c.(712-714)Tgt>Ggt	p.C238G	TP53_ENST00000420246.2_Missense_Mutation_p.C238G|TP53_ENST00000359597.4_Missense_Mutation_p.C238G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C238G|TP53_ENST00000455263.2_Missense_Mutation_p.C238G|TP53_ENST00000445888.2_Missense_Mutation_p.C238G	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(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)	GAACTGTTACACATGTAGTTG	0.567		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"	60	Substitution - Missense(31)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(1)|Insertion - In frame(1)	ovary(11)|liver(7)|biliary_tract(6)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|lung(2)|skin(2)|prostate(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	17	GRCh37	CM025271|CM056070	TP53	M							131	103	112					17																	7577569		2203	4300	6503	7518294	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.712T>G	17.37:g.7577569A>C	ENSP00000269305:p.Cys238Gly		7518294	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	.	.	.	.	.	.	.	.	.	.	A	21.1	4.105582	0.77096	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.95;-9.95;-9.95;-9.95;-9.95;-9.95;-9.95;-9.95	4.09	4.09	0.47781	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	0.99969	0.9989	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94772	0.7946	10	0.87932	D	0	-18.536	11.6823	0.51466	1.0:0.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	G	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238G;ENSP00000352610:C238G;ENSP00000269305:C238G;ENSP00000398846:C238G;ENSP00000391127:C238G;ENSP00000391478:C238G;ENSP00000425104:C106G;ENSP00000423862:C145G	ENSP00000269305:C238G	C	-	1	0	TP53	7518294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.021000	0.93673	2.074000	0.62210	0.379000	0.24179	TGT		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577569	A	C	7577569	3	2	328	1	0	0	0	0	1	0	0	0	16381	159	6	5	578	5	TP53	17	7577569	Missense_Mutation	SNP	A	TCGA-29-1697-01A-01W-0633-09		7577569	73617641	35	17570											
RAI1	10743	genome.wustl.edu	37	17	17697102	17697102	+	Frame_Shift_Del	DEL	G	G	-	rs398124422|rs34083643|rs398124421|rs587780431		TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr17:17697102delG	ENST00000353383.1	+	3	1309	c.840delG	c.(838-840)cagfs	p.Q291fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.Q291fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	291	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.Q280fs*84(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACcagcagcagcagcagcagc	0.627																																																1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	17											20	25	23					17																	17697102		2038	4033	6071	17637827	SO:0001589	frameshift_variant	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.840delG	17.37:g.17697102delG	ENSP00000323074:p.Gln291fs		17637827	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	ENST00000353383.1	37	CCDS11188.1																																																																																				0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		-	17697102	G	-	17697102	7	5	328	1	0	1	0	1	0	0	0	0	13010	962	34	0	842	0	RAI1	17	17697102	Frame_Shift_Del	DEL	G	TCGA-29-1697-01A-01W-0633-09	10119533	17697102	63498108	36	17571											
CPAMD8	27151	genome.wustl.edu	37	19	17091434	17091434	+	Silent	SNP	G	G	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr19:17091434G>A	ENST00000443236.1	-	14	1630	c.1599C>T	c.(1597-1599)taC>taT	p.Y533Y	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	486						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						CAGCCACCTCGTAGTACAGGG	0.597																																																0			19											74	79	78					19																	17091434		2003	4171	6174	16952434	SO:0001819	synonymous_variant	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.1599C>T	19.37:g.17091434G>A			16952434	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	5.560	0.288163	0.10513	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.9	-5.81	0.02340	.	.	.	.	.	T	0.53222	0.1783	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55655	-0.8107	4	.	.	.	.	10.9264	0.47193	0.7325:0.0:0.2675:0.0	.	.	.	.	M	544	.	.	T	-	2	0	CPAMD8	16952434	0.409000	0.25368	0.963000	0.40424	0.674000	0.39518	-0.496000	0.06436	-1.201000	0.02659	-0.670000	0.03821	ACG		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		A	17091434	G	A	17091434	2	1	328	1	0	0	0	0	0	0	0	1	3795	1140	40	1		1	CPAMD8	19	17091434	Silent	SNP	G	TCGA-29-1697-01A-01W-0633-09		17091434	42037549	37	17572											
RYR1	6261	genome.wustl.edu	37	19	38964116	38964116	+	Silent	SNP	C	C	A	rs377185497		TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr19:38964116C>A	ENST00000359596.3	+	28	3865	c.3865C>A	c.(3865-3867)Cgg>Agg	p.R1289R	RYR1_ENST00000360985.3_Silent_p.R1289R|RYR1_ENST00000355481.4_Silent_p.R1289R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1289	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTTTTCCTGCGGCTGAGCCT	0.701																																																0			19											35	34	34					19																	38964116		2203	4300	6503	43655956	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3865C>A	19.37:g.38964116C>A			43655956	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.701	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38964116	C	A	38964116	2	1	328	1	0	0	0	0	0	0	0	1	13771	759	27	3		3	RYR1	19	38964116	Silent	SNP	C	TCGA-29-1697-01A-01W-0633-09	21872682	38964116	20164867	38	17573											
PNMAL2	57469	genome.wustl.edu	37	19	46998642	46998642	+	Silent	SNP	C	C	T			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr19:46998642C>T	ENST00000377655.2	-	1	80	c.81G>A	c.(79-81)ccG>ccA	p.P27P	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Silent_p.P27P|AC011484.1_ENST00000377652.3_3'UTR			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	27								p.P27P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ccaggccctccgggatgccgg	0.662																																																1	Substitution - coding silent(1)	lung(1)	19											37	41	40					19																	46998642		2076	4205	6281	51690482	SO:0001819	synonymous_variant	0			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.81G>A	19.37:g.46998642C>T			51690482	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37																																																																																					0.662	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		T	46998642	C	T	46998642	2	4	328	1	0	0	0	0	0	0	0	1	12158	639	23	1		1	PNMAL2	19	46998642	Silent	SNP	C	TCGA-29-1697-01A-01W-0633-09	8034526	46998642	12130341	39	17574											
TP53TG5	27296	genome.wustl.edu	37	20	44006863	44006863	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1697-01A-01W-0633-09	TCGA-29-1697-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c8fb542e-1713-4e61-84ac-6b9f85288da0	84b432ab-5c6b-4e47-a516-444cb68b5455	g.chr20:44006863G>A	ENST00000372726.3	-	1	170	c.14C>T	c.(13-15)gCa>gTa	p.A5V	TP53TG5_ENST00000537995.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	5					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CCTCTTCTTTGCTGATGGACT	0.552																																																0			20											229	202	211					20																	44006863		2203	4300	6503	43440277	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.14C>T	20.37:g.44006863G>A	ENSP00000361811:p.Ala5Val		43440277		Missense_Mutation	SNP	ENST00000372726.3	37	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353624	0.41700	.	.	ENSG00000124251	ENST00000372726	T	0.10099	2.91	4.51	0.362	0.16113	.	0.402400	0.23465	N	0.047882	T	0.06781	0.0173	L	0.38175	1.15	0.80722	D	1	B	0.30851	0.297	B	0.27262	0.078	T	0.30822	-0.9965	10	0.59425	D	0.04	-0.411	3.3256	0.07066	0.2923:0.0:0.5255:0.1821	.	5	Q9Y2B4	T53G5_HUMAN	V	5	ENSP00000361811:A5V	ENSP00000361811:A5V	A	-	2	0	TP53TG5	43440277	0.247000	0.23920	0.778000	0.31720	0.982000	0.71751	0.124000	0.15728	0.112000	0.17975	0.650000	0.86243	GCA		0.552	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		A	44006863	G	A	44006863	3	1	328	1	0	0	0	0	1	0	0	0	16391	1319	46	2	878	2	TP53TG5	20	44006863	Missense_Mutation	SNP	G	TCGA-29-1697-01A-01W-0633-09		44006863	19018657	40	17575											
KLHDC7A	127707	genome.wustl.edu	37	1	18808650	18808650	+	Missense_Mutation	SNP	C	C	G	rs200169797	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:18808650C>G	ENST00000400664.1	+	1	1227	c.1175C>G	c.(1174-1176)cCg>cGg	p.P392R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	392						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCAGACCCGGGCGCCCTG	0.667													C|||	5	0.000998403	0.0038	0	5008	,	,		14175	0		0	False		,,,				2504	0															0			1						C	ARG/PRO	11,4279		0,11,2134	11	15	13		1175	-3.8	0	1		13	0,8458		0,0,4229	no	missense	KLHDC7A	NM_152375.2	103	0,11,6363	GG,GC,CC		0.0,0.2564,0.0863	possibly-damaging	392/778	18808650	11,12737	2145	4229	6374	18681237	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1175C>G	1.37:g.18808650C>G	ENSP00000383505:p.Pro392Arg		18681237	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.823	0.153009	0.09185	0.002564	0.0	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72167	-0.63	4.58	-3.76	0.04359	.	1.347400	0.05113	N	0.489331	T	0.46718	0.1407	N	0.14661	0.345	0.09310	N	1	B;B	0.18863	0.012;0.031	B;B	0.15484	0.013;0.007	T	0.18840	-1.0324	10	0.27785	T	0.31	.	3.0382	0.06129	0.3054:0.4264:0.1593:0.1089	.	329;392	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	R	392;329	ENSP00000383505:P392R	ENSP00000383505:P392R	P	+	2	0	KLHDC7A	18681237	0.000000	0.05858	0.002000	0.10522	0.365000	0.29674	-0.607000	0.05648	-0.331000	0.08501	-0.657000	0.03884	CCG		0.667	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		G	18808650	C	G	18808650	3	3	329	1	0	0	0	0	1	0	0	0	8360	652	23	3	1177	3	KLHDC7A	1	18808650	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09		18808650	230441971	1	17576											
KIAA0754	643314	genome.wustl.edu	37	1	39876373	39876373	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:39876373G>A	ENST00000530275.1	+	1	223	c.28G>A	c.(28-30)Gag>Aag	p.E10K	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	10										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATTTGCAGAGAGGATAGA	0.478																																																0			1											94	92	93					1																	39876373		1911	4128	6039	39648960	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.28G>A	1.37:g.39876373G>A	ENSP00000431179:p.Glu10Lys		39648960	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	G	26.1	4.701782	0.88924	.	.	ENSG00000255103	ENST00000530275	T	0.44083	0.93	4.88	4.88	0.63580	.	.	.	.	.	T	0.53916	0.1826	L	0.27053	0.805	0.34751	D	0.731728	D	0.89917	1.0	D	0.91635	0.999	T	0.67122	-0.5750	9	0.87932	D	0	.	18.0435	0.89325	0.0:0.0:1.0:0.0	.	10	O94854	K0754_HUMAN	K	10	ENSP00000431179:E10K	ENSP00000431179:E10K	E	+	1	0	RP4-562N20.1	39648960	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.076000	0.71267	2.260000	0.74910	0.555000	0.69702	GAG		0.478	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		A	39876373	G	A	39876373	3	1	329	1	0	0	0	0	1	0	0	0	8192	943	33	2	438	2	KIAA0754	1	39876373	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09	21067723	39876373	209374248	2	17577											
USH2A	7399	genome.wustl.edu	37	1	215802329	215802329	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:215802329G>A	ENST00000307340.3	-	71	15732	c.15346C>T	c.(15346-15348)Cgc>Tgc	p.R5116C	SNORD116_ENST00000365628.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R5140C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5116					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGTTGCTGCGGATACTCACA	0.517										HNSCC(13;0.011)																																						0			1											121	121	121					1																	215802329		2203	4300	6503	213868952	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15346C>T	1.37:g.215802329G>A	ENSP00000305941:p.Arg5116Cys		213868952	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965732	0.53507	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.16073	2.37;2.49	5.67	3.66	0.41972	.	0.185589	0.25680	U	0.029004	T	0.26011	0.0634	M	0.65975	2.015	0.40915	D	0.984266	D	0.76494	0.999	P	0.50490	0.642	T	0.02713	-1.1120	10	0.66056	D	0.02	.	9.1765	0.37116	0.0:0.1169:0.5101:0.373	.	5116	O75445	USH2A_HUMAN	C	5116;5140	ENSP00000305941:R5116C;ENSP00000355910:R5140C	ENSP00000305941:R5116C	R	-	1	0	USH2A	213868952	0.397000	0.25270	0.841000	0.33234	0.087000	0.18053	2.397000	0.44477	0.601000	0.29879	0.591000	0.81541	CGC		0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	215802329	G	A	215802329	3	1	329	1	0	0	0	0	1	0	0	0	17036	1116	39	1	270	1	USH2A	1	215802329	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09	175925956	215802329	33448292	3	17578											
PSEN2	5664	genome.wustl.edu	37	1	227076726	227076726	+	Missense_Mutation	SNP	A	A	T	rs201292728		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:227076726A>T	ENST00000366783.3	+	8	1199	c.763A>T	c.(763-765)Atc>Ttc	p.I255F	PSEN2_ENST00000472139.2_Missense_Mutation_p.I111F|PSEN2_ENST00000340188.4_Missense_Mutation_p.I255F|PSEN2_ENST00000391872.2_Missense_Mutation_p.I288F|PSEN2_ENST00000422240.2_Missense_Mutation_p.I255F|PSEN2_ENST00000366782.1_Missense_Mutation_p.I288F	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	255					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CGCGTGGGTCATCCTGGGCGC	0.617																																																0			1											102	79	87					1																	227076726		2203	4300	6503	225143349	SO:0001583	missense	5664			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.763A>T	1.37:g.227076726A>T	ENSP00000355747:p.Ile255Phe		225143349	A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.676209	0.88445	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D;D	0.99660	-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32	4.92	4.92	0.64577	.	0.094982	0.64402	D	0.000001	D	0.99554	0.9840	M	0.80028	2.48	0.80722	D	1	P;D	0.71674	0.786;0.998	P;D	0.76575	0.688;0.988	D	0.98063	1.0394	10	0.87932	D	0	.	14.8571	0.70347	1.0:0.0:0.0:0.0	.	255;255	A8K8D4;P49810	.;PSN2_HUMAN	F	255;255;255;82;288;288;111	ENSP00000355747:I255F;ENSP00000339860:I255F;ENSP00000403737:I255F;ENSP00000427912:I82F;ENSP00000355746:I288F;ENSP00000375745:I288F;ENSP00000427806:I111F	ENSP00000339860:I255F	I	+	1	0	PSEN2	225143349	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.213000	0.95133	1.965000	0.57142	0.459000	0.35465	ATC		0.617	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		T	227076726	A	T	227076726	3	4	329	1	0	0	0	0	1	0	0	0	12654	217	8	5	781	5	PSEN2	1	227076726	Missense_Mutation	SNP	A	TCGA-29-1698-01A-01W-0633-09	11274397	227076726	22173895	4	17579											
RGS7	6000	genome.wustl.edu	37	1	240977005	240977005	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr1:240977005T>G	ENST00000407727.1	-	12	868	c.869A>C	c.(868-870)tAt>tCt	p.Y290S	RGS7_ENST00000366565.1_Missense_Mutation_p.Y290S|RGS7_ENST00000348120.2_Missense_Mutation_p.Y237S|RGS7_ENST00000366562.4_Missense_Mutation_p.Y290S|RGS7_ENST00000401882.1_Missense_Mutation_p.Y237S|RGS7_ENST00000366563.1_Missense_Mutation_p.Y290S|RGS7_ENST00000331110.7_Missense_Mutation_p.Y264S|RGS7_ENST00000366564.1_Missense_Mutation_p.Y290S|RGS7_ENST00000446183.2_Missense_Mutation_p.Y206S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	290	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTATTCTAAATACTGTTCCGT	0.443																																																0			1											108	103	105					1																	240977005		2203	4300	6503	239043628	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.869A>C	1.37:g.240977005T>G	ENSP00000384428:p.Tyr290Ser		239043628	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	T	26.0	4.699069	0.88830	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.76	5.76	0.90799	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.988;0.998;0.999;0.97;0.993;0.974;0.994	D;D;D;D;D;P;D	0.69142	0.948;0.962;0.962;0.913;0.936;0.848;0.962	T	0.65952	-0.6043	10	0.66056	D	0.02	-16.9615	15.2536	0.73568	0.0:0.0:0.0:1.0	.	206;264;237;290;290;290;290	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	S	264;290;290;290;121;237;206;290;290;237	ENSP00000331485:Y264S;ENSP00000355523:Y290S;ENSP00000355522:Y290S;ENSP00000355521:Y290S;ENSP00000404399:Y121S;ENSP00000341242:Y237S;ENSP00000390138:Y206S;ENSP00000355520:Y290S;ENSP00000384428:Y290S;ENSP00000385508:Y237S	ENSP00000331485:Y264S	Y	-	2	0	RGS7	239043628	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.036000	0.88901	2.187000	0.69744	0.533000	0.62120	TAT		0.443	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		G	240977005	T	G	240977005	3	3	329	1	0	0	0	0	1	0	0	0	13313	1406	49	5	618	5	RGS7	1	240977005	Missense_Mutation	SNP	T	TCGA-29-1698-01A-01W-0633-09	13900279	240977005	8273616	5	17580											
GREB1	9687	genome.wustl.edu	37	2	11761033	11761033	+	Silent	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr2:11761033C>T	ENST00000381486.2	+	23	4347	c.4047C>T	c.(4045-4047)atC>atT	p.I1349I	GREB1_ENST00000396123.1_Silent_p.I347I|GREB1_ENST00000234142.5_Silent_p.I1349I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1349						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTTACAGATCGGGAAGACAG	0.547																																					Ovarian(39;850 945 2785 23371 33093)											0			2											162	161	162					2																	11761033		1959	4152	6111	11678484	SO:0001819	synonymous_variant	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4047C>T	2.37:g.11761033C>T			11678484	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																				0.547	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11761033	C	T	11761033	2	4	329	1	0	0	0	0	0	0	0	1	6760	874	31	1		1	GREB1	2	11761033	Silent	SNP	C	TCGA-29-1698-01A-01W-0633-09		11761033	231438340	6	17581											
RGPD4	285190	genome.wustl.edu	37	2	108478193	108478193	+	Silent	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr2:108478193G>A	ENST00000408999.3	+	15	2279	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K	RGPD4_ENST00000354986.4_Silent_p.K734K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	734					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTCAAGAAAGTAAGTA	0.358																																																0			2											10	9	9					2																	108478193		680	1556	2236	107844625	SO:0001819	synonymous_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2202G>A	2.37:g.108478193G>A			107844625	B9A029	Silent	SNP	ENST00000408999.3	37	CCDS46381.1																																																																																				0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108478193	G	A	108478193	2	1	329	1	0	0	0	0	0	0	0	1	13291	933	33	2		2	RGPD4	2	108478193	Silent	SNP	G	TCGA-29-1698-01A-01W-0633-09	96717160	108478193	134721180	7	17582											
SAP130	79595	genome.wustl.edu	37	2	128699592	128699592	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr2:128699592C>G	ENST00000259235.3	-	20	3264	c.3135G>C	c.(3133-3135)aaG>aaC	p.K1045N	SAP130_ENST00000259234.6_Missense_Mutation_p.K1053N|SAP130_ENST00000357702.5_Missense_Mutation_p.K1080N	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1045	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGACTTTTTCCTTTCGCTTCA	0.433																																																0			2											157	147	151					2																	128699592		2203	4300	6503	128416062	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.3135G>C	2.37:g.128699592C>G	ENSP00000259235:p.Lys1045Asn		128416062	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	.	8.899	0.955899	0.18507	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	2.48	0.30137	.	0.043371	0.85682	D	0.000000	T	0.47673	0.1458	N	0.24115	0.695	0.58432	D	0.999999	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	P;P;P;P	0.53593	0.647;0.73;0.73;0.73	T	0.45011	-0.9290	9	0.72032	D	0.01	-20.3777	9.9654	0.41721	0.0:0.6791:0.0:0.3209	.	1080;1045;610;682	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	N	1080;1045;1053	.	ENSP00000259234:K1053N	K	-	3	2	SAP130	128416062	1.000000	0.71417	0.998000	0.56505	0.014000	0.08584	0.853000	0.27777	0.196000	0.20367	-0.140000	0.14226	AAG		0.433	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		G	128699592	C	G	128699592	3	3	329	1	0	0	0	0	1	0	0	0	13834	680	24	3	15	3	SAP130	2	128699592	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09	20221399	128699592	114499781	8	17583											
CCDC108	255101	genome.wustl.edu	37	2	219900273	219900273	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr2:219900273C>A	ENST00000341552.5	-	5	554	c.471G>T	c.(469-471)gaG>gaT	p.E157D	CCDC108_ENST00000409865.3_Missense_Mutation_p.E146D|CCDC108_ENST00000295729.2_Missense_Mutation_p.E92D|CCDC108_ENST00000453220.1_Missense_Mutation_p.E157D|CCDC108_ENST00000410037.1_Missense_Mutation_p.E92D|CCDC108_ENST00000324264.6_Missense_Mutation_p.E92D|CCDC108_ENST00000441968.1_Missense_Mutation_p.E157D	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	157						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTTCCTAGCTCCCAGCCTT	0.498																																																0			2											181	169	173					2																	219900273		2203	4300	6503	219608517	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.471G>T	2.37:g.219900273C>A	ENSP00000340776:p.Glu157Asp		219608517	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261839	0.39995	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.39	-3.94	0.04130	.	1.110420	0.06981	N	0.819916	T	0.40932	0.1137	M	0.71036	2.16	0.18873	N	0.999988	D;B;D	0.54964	0.969;0.003;0.969	P;B;P	0.54629	0.757;0.01;0.757	T	0.46498	-0.9187	10	0.66056	D	0.02	-1.7774	5.6582	0.17654	0.2639:0.3418:0.0:0.3943	.	146;92;157	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	D	157;157;157;146;92;91;146;92;92;92;92	ENSP00000340776:E157D;ENSP00000413377:E157D;ENSP00000409117:E157D;ENSP00000386945:E146D;ENSP00000386258:E92D;ENSP00000393483:E146D;ENSP00000396836:E92D;ENSP00000295729:E92D;ENSP00000313807:E92D;ENSP00000413746:E92D	ENSP00000295729:E92D	E	-	3	2	CCDC108	219608517	0.009000	0.17119	0.035000	0.18076	0.854000	0.48673	-1.221000	0.02968	-0.601000	0.05783	0.561000	0.74099	GAG		0.498	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		A	219900273	C	A	219900273	3	1	329	1	0	0	0	0	1	0	0	0	2743	796	28	3	5578	3	CCDC108	2	219900273	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09	91200681	219900273	23299100	9	17584											
NISCH	11188	genome.wustl.edu	37	3	52525947	52525949	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	GAG	GAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:52525947_52525949delGAG	ENST00000479054.1	+	22	4036_4038	c.3964_3966delGAG	c.(3964-3966)gagdel	p.E1324del	NISCH_ENST00000345716.4_In_Frame_Del_p.E1324del			Q9Y2I1	NISCH_HUMAN	nischarin	1324					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)			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)	CTACCCCAGTGAGGAGGAGATTG	0.586																																																0			3																																								52500989	SO:0001651	inframe_deletion	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.3964_3966delGAG	3.37:g.52525953_52525955delGAG	ENSP00000418232:p.Glu1324del		52500987	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	In_Frame_Del	DEL	ENST00000479054.1	37	CCDS33767.1																																																																																				0.586	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		-	52525949	GAG	-	52525947	7	5	329	1	0	1	0	1	0	0	0	0	10432	1291	45	0	4046	0	NISCH	3	52525947	In_Frame_Del	DEL	GAG	TCGA-29-1698-01A-01W-0633-09		52525947	145496483	10	17585											
SLMAP	7871	genome.wustl.edu	37	3	57847690	57847690	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:57847690T>A	ENST00000428312.1	+	9	937	c.843T>A	c.(841-843)aaT>aaA	p.N281K	SLMAP_ENST00000449503.2_Missense_Mutation_p.N281K|SLMAP_ENST00000295951.3_Missense_Mutation_p.N281K|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.N281K|SLMAP_ENST00000383718.3_Missense_Mutation_p.N281K			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	281					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GTCTGAGTAATACTGAAGATG	0.294																																																0			3											81	87	85					3																	57847690		2203	4300	6503	57822730	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.843T>A	3.37:g.57847690T>A	ENSP00000398661:p.Asn281Lys		57822730	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37		.	.	.	.	.	.	.	.	.	.	T	21.1	4.097253	0.76870	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.71	2.01	0.26516	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	L	0.58101	1.795	0.80722	D	1	P;D;D;B	0.63046	0.628;0.992;0.984;0.097	P;P;P;B	0.58520	0.519;0.84;0.828;0.138	T	0.52335	-0.8589	10	0.08179	T	0.78	-3.4692	8.7474	0.34594	0.0:0.3556:0.0:0.6444	.	281;281;281;281	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	K	281	ENSP00000295951:N281K;ENSP00000295952:N281K;ENSP00000373224:N281K;ENSP00000398661:N281K;ENSP00000412945:N281K	ENSP00000295951:N281K	N	+	3	2	SLMAP	57822730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.808000	0.38912	0.403000	0.25479	0.533000	0.62120	AAT		0.294	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		A	57847690	T	A	57847690	3	1	329	1	0	0	0	0	1	0	0	0	14752	1403	49	5	877	5	SLMAP	3	57847690	Missense_Mutation	SNP	T	TCGA-29-1698-01A-01W-0633-09	5321743	57847690	140174740	11	17586											
FLNB	2317	genome.wustl.edu	37	3	57994509	57994509	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:57994509G>T	ENST00000295956.4	+	1	383	c.218G>T	c.(217-219)cGc>cTc	p.R73L	FLNB_ENST00000358537.3_Missense_Mutation_p.R73L|FLNB_ENST00000490882.1_Missense_Mutation_p.R73L|FLNB_ENST00000357272.4_Missense_Mutation_p.R73L|FLNB_ENST00000348383.5_Missense_Mutation_p.R73L|FLNB_ENST00000429972.2_Missense_Mutation_p.R73L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	73	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCACCTTTCGCCAGATGCAG	0.642																																																0			3											125	127	126					3																	57994509		2203	4300	6503	57969549	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.218G>T	3.37:g.57994509G>T	ENSP00000295956:p.Arg73Leu		57969549	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382236	0.95967	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.52	5.52	0.82312	Calponin homology domain (5);	0.158085	0.45867	D	0.000331	D	0.98356	0.9454	M	0.93420	3.415	0.80722	D	1	B;D;P;P	0.55172	0.277;0.97;0.861;0.861	B;P;B;B	0.56751	0.03;0.805;0.34;0.34	D	0.99353	1.0915	10	0.87932	D	0	.	19.0468	0.93022	0.0:0.0:1.0:0.0	.	73;73;73;73	O75369-2;B2ZZ83;Q60FE7;O75369	.;.;.;FLNB_HUMAN	L	73	ENSP00000295956:R73L;ENSP00000420213:R73L;ENSP00000351339:R73L;ENSP00000415599:R73L;ENSP00000232447:R73L;ENSP00000349819:R73L	ENSP00000295956:R73L	R	+	2	0	FLNB	57969549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.614000	0.98353	2.614000	0.88457	0.585000	0.79938	CGC		0.642	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		T	57994509	G	T	57994509	3	4	329	1	0	0	0	0	1	0	0	0	5934	1087	38	3	220	3	FLNB	3	57994509	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09	146819	57994509	140027921	12	17587											
GK5	256356	genome.wustl.edu	37	3	141917755	141917755	+	Silent	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:141917755T>C	ENST00000392993.2	-	5	583	c.432A>G	c.(430-432)cgA>cgG	p.R144R	GK5_ENST00000544571.1_Silent_p.R144R	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	144					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AGTGAAGCACTCGGCAAGAAC	0.318																																																0			3											61	59	60					3																	141917755		2203	4300	6503	143400445	SO:0001819	synonymous_variant	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.432A>G	3.37:g.141917755T>C			143400445	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Silent	SNP	ENST00000392993.2	37	CCDS33871.1																																																																																				0.318	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		C	141917755	T	C	141917755	2	2	329	1	0	0	0	0	0	0	0	1	6422	1538	54	4		4	GK5	3	141917755	Silent	SNP	T	TCGA-29-1698-01A-01W-0633-09	83923246	141917755	56104675	13	17588											
CP	1356	genome.wustl.edu	37	3	148927000	148927000	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:148927000T>C	ENST00000264613.6	-	4	1041	c.779A>G	c.(778-780)tAt>tGt	p.Y260C		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	260	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AATCTTACAATACATTCTGTT	0.358																																																0			3											227	212	217					3																	148927000		2202	4300	6502	150409690	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.779A>G	3.37:g.148927000T>C	ENSP00000264613:p.Tyr260Cys		150409690	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931282	0.73327	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.82984	-1.67;-1.67	5.5	5.5	0.81552	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.233268	0.42821	D	0.000643	D	0.90253	0.6952	M	0.69523	2.12	0.43377	D	0.995476	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.989	D	0.91301	0.5067	10	0.72032	D	0.01	-26.795	15.6001	0.76616	0.0:0.0:0.0:1.0	.	260;260;260	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	C	260;43	ENSP00000264613:Y260C;ENSP00000420545:Y43C	ENSP00000264613:Y260C	Y	-	2	0	CP	150409690	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	7.646000	0.83445	2.064000	0.61679	0.528000	0.53228	TAT		0.358	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		C	148927000	T	C	148927000	3	2	329	1	0	0	0	0	1	0	0	0	3787	1406	49	4	2482	4	CP	3	148927000	Missense_Mutation	SNP	T	TCGA-29-1698-01A-01W-0633-09	7009245	148927000	49095430	14	17589											
RPL22L1	200916	genome.wustl.edu	37	3	170587950	170587950	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr3:170587950G>A	ENST00000295830.8	-	1	322	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	RPL22L1_ENST00000463836.1_Missense_Mutation_p.P3S	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	3					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCACTCACCGGCGCCATCTTG	0.552																																																0			3											69	75	73					3																	170587950		2072	4206	6278	172070644	SO:0001583	missense	200916			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.7C>T	3.37:g.170587950G>A	ENSP00000346080:p.Pro3Ser		172070644	Q32Q77	Missense_Mutation	SNP	ENST00000295830.8	37	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970216	0.53614	.	.	ENSG00000163584	ENST00000295830;ENST00000463836	T;T	0.45276	0.9;0.97	4.4	3.52	0.40303	.	.	.	.	.	T	0.59321	0.2185	M	0.68593	2.085	0.22811	N	0.998706	D	0.65815	0.995	D	0.63957	0.92	T	0.50558	-0.8814	9	0.72032	D	0.01	.	12.4101	0.55461	0.0:0.1698:0.8302:0.0	.	3	Q6P5R6	RL22L_HUMAN	S	3	ENSP00000346080:P3S;ENSP00000419041:P3S	ENSP00000346080:P3S	P	-	1	0	RPL22L1	172070644	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.888000	0.48594	1.451000	0.47736	0.313000	0.20887	CCG		0.552	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317		A	170587950	G	A	170587950	3	1	329	1	0	0	0	0	1	0	0	0	13572	1203	42	2	377	2	RPL22L1	3	170587950	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09	21660950	170587950	27434480	15	17590											
CLPTM1L	81037	genome.wustl.edu	37	5	1335185	1335185	+	Silent	SNP	G	G	A	rs145488125	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr5:1335185G>A	ENST00000320895.5	-	6	1040	c.783C>T	c.(781-783)tcC>tcT	p.S261S	CLPTM1L_ENST00000507807.1_Silent_p.S128S|CLPTM1L_ENST00000320927.6_Silent_p.S261S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	261					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACTGCTGCAGGGAGTACACGG	0.672													G|||	4	0.000798722	0.003	0	5008	,	,		16811	0		0	False		,,,				2504	0															0			5						G		4,4402	8.1+/-20.4	0,4,2199	71	69	69		783	0.1	0.8	5	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLPTM1L	NM_030782.3		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		261/539	1335185	5,13001	2203	4300	6503	1388185	SO:0001819	synonymous_variant	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.783C>T	5.37:g.1335185G>A			1388185	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	CCDS3862.1																																																																																				0.672	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		A	1335185	G	A	1335185	2	1	329	1	0	0	0	0	0	0	0	1	3555	1219	43	2		2	CLPTM1L	5	1335185	Silent	SNP	G	TCGA-29-1698-01A-01W-0633-09		1335185	179580075	16	17591											
MSH5	4439	genome.wustl.edu	37	6	31727950	31727950	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr6:31727950T>A	ENST00000375755.3	+	19	2055	c.1769T>A	c.(1768-1770)aTc>aAc	p.I590N	MSH5_ENST00000395853.1_Missense_Mutation_p.I264N|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.I607N|SAPCD1_ENST00000425424.1_5'Flank|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000375703.3_Missense_Mutation_p.I590N|MSH5_ENST00000431848.2_Missense_Mutation_p.I289N|MSH5_ENST00000534153.4_Missense_Mutation_p.I607N|MSH5_ENST00000375750.3_Missense_Mutation_p.I590N|MSH5_ENST00000375742.3_Missense_Mutation_p.I607N|MSH5_ENST00000375740.3_Missense_Mutation_p.I607N	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	590					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						GTCAAAGTCATCACTGGACCC	0.567								Direct reversal of damage;Mismatch excision repair (MMR)																																								0			6											113	107	109					6																	31727950		2203	4300	6503	31835929	SO:0001583	missense	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1769T>A	6.37:g.31727950T>A	ENSP00000364908:p.Ile590Asn		31835929	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898097	0.91962	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	6.06	6.06	0.98353	DNA mismatch repair protein MutS, C-terminal (2);	0.097632	0.64402	D	0.000002	D	0.96537	0.8870	H	0.96015	3.755	0.47009	D	0.999283	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.998	D;D;D;D;D	0.77557	0.982;0.975;0.99;0.976;0.958	D	0.97659	1.0159	9	0.87932	D	0	-0.747	14.5614	0.68140	0.0:0.0:0.0:1.0	.	275;607;590;590;607	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	N	590;607;122;590;607;590;607;289;264	ENSP00000364908:I590N;ENSP00000364894:I607N;ENSP00000364903:I590N;ENSP00000431693:I607N;ENSP00000364855:I590N;ENSP00000364892:I607N;ENSP00000416784:I289N;ENSP00000379194:I264N	ENSP00000364855:I590N	I	+	2	0	MSH5	31835929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.072000	0.76777	2.324000	0.78689	0.533000	0.62120	ATC		0.567	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			A	31727950	T	A	31727950	3	1	329	1	0	0	0	0	1	0	0	0	9873	1435	50	5	1890	5	MSH5	6	31727950	Missense_Mutation	SNP	T	TCGA-29-1698-01A-01W-0633-09		31727950	139387117	17	17592											
CYB5R4	51167	genome.wustl.edu	37	6	84645963	84645963	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr6:84645963T>C	ENST00000369681.5	+	12	1116	c.976T>C	c.(976-978)Tat>Cat	p.Y326H	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	326	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGTAAAGCCATATACACCTGT	0.303																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)											0			6											43	44	44					6																	84645963		2203	4300	6503	84702682	SO:0001583	missense	51167			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.976T>C	6.37:g.84645963T>C	ENSP00000358695:p.Tyr326His		84702682	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310579	0.60414	.	.	ENSG00000065615	ENST00000369681	D	0.98221	-4.8	4.92	3.72	0.42706	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99544	1.0964	10	0.87932	D	0	-18.9617	11.5952	0.50968	0.0:0.0:0.1498:0.8502	.	326	Q7L1T6	NB5R4_HUMAN	H	326	ENSP00000358695:Y326H	ENSP00000358695:Y326H	Y	+	1	0	CYB5R4	84702682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.500000	0.66943	0.785000	0.33685	0.383000	0.25322	TAT		0.303	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		C	84645963	T	C	84645963	3	2	329	1	0	0	0	0	1	0	0	0	4129	1406	49	4	1022	4	CYB5R4	6	84645963	Missense_Mutation	SNP	T	TCGA-29-1698-01A-01W-0633-09	52918013	84645963	86469104	18	17593											
TBRG4	9238	genome.wustl.edu	37	7	45145251	45145251	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr7:45145251C>T	ENST00000258770.3	-	3	645	c.524G>A	c.(523-525)cGc>cAc	p.R175H	SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000494076.1_Missense_Mutation_p.R175H|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA|TBRG4_ENST00000395655.4_Missense_Mutation_p.R175H|TBRG4_ENST00000471142.1_5'Flank|TBRG4_ENST00000361278.3_Missense_Mutation_p.R175H	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	175					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CTTCCGCATGCGCCAGCGGAC	0.632																																																0			7											77	74	75					7																	45145251		2203	4300	6503	45111776	SO:0001583	missense	9238			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.524G>A	7.37:g.45145251C>T	ENSP00000258770:p.Arg175His		45111776	A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011622	0.93346	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.76328	2.33	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.995	T	0.63559	-0.6610	10	0.42905	T	0.14	.	16.6857	0.85304	0.0:1.0:0.0:0.0	.	186;175;175	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	H	175;175;175;175;140;121	ENSP00000258770:R175H;ENSP00000354992:R175H;ENSP00000379016:R175H;ENSP00000420597:R175H;ENSP00000418631:R140H;ENSP00000417743:R121H	ENSP00000258770:R175H	R	-	2	0	TBRG4	45111776	1.000000	0.71417	0.969000	0.41365	0.957000	0.61999	6.786000	0.75094	2.718000	0.92993	0.655000	0.94253	CGC		0.632	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		T	45145251	C	T	45145251	3	4	329	1	0	0	0	0	1	0	0	0	15649	768	27	1	1407	1	TBRG4	7	45145251	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09		45145251	113993412	19	17594											
EMID2	136227	genome.wustl.edu	37	7	101188710	101188710	+	RNA	SNP	C	C	G	rs147296294	byFrequency	TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr7:101188710C>G	ENST00000397927.3	+	0	1008				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GCAACCCAGGCCCCTCACCAA	0.701													C|||	23	0.00459265	0.0174	0	5008	,	,		13430	0		0	False		,,,				2504	0															0			7						C		27,3665		0,27,1819	17	23	21		789	2.9	0.1	7	dbSNP_134	21	0,8142		0,0,4071	no	coding-synonymous	EMID2	NM_133457.2		0,27,5890	GG,GC,CC		0.0,0.7313,0.2282		263/440	101188710	27,11807	1846	4071	5917	100975430			136227			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101188710C>G			100975430	Q32M90	Silent	SNP	ENST00000397927.3	37																																																																																					0.701	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		G	101188710	C	G	101188710	1	3	329	0	1	0	0	0	0	0	0	0	5092	726	26	3		3	EMID2	7	101188710	RNA	SNP	C	TCGA-29-1698-01A-01W-0633-09	56043459	101188710	57949953	20	17595											
TRYX3	136541	genome.wustl.edu	37	7	141952090	141952090	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr7:141952090T>A	ENST00000552471.1	-	5	996	c.677A>T	c.(676-678)aAa>aTa	p.K226I	PRSS58_ENST00000547058.2_Missense_Mutation_p.K226I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GTAAAAAATTTTGGCATAGAT	0.443																																																0			7											60	67	65					7																	141952090		2203	4300	6503	141598568	SO:0001583	missense	0				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.677A>T	7.37:g.141952090T>A	ENSP00000446916:p.Lys226Ile		141598568	B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449718	0.63290	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.82803	-1.65;-1.65	5.24	-4.03	0.04021	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90246	0.6950	M	0.92169	3.28	0.09310	N	0.999999	D	0.55800	0.973	P	0.57776	0.827	D	0.85691	0.1307	9	0.87932	D	0	.	12.8327	0.57754	0.0:0.7153:0.0:0.2847	.	226	Q8IYP2	PRS58_HUMAN	I	226	ENSP00000447588:K226I;ENSP00000446916:K226I	ENSP00000307206:K226I	K	-	2	0	PRSS58	141598568	0.456000	0.25744	0.003000	0.11579	0.680000	0.39746	0.000000	0.12993	-0.687000	0.05162	0.533000	0.62120	AAA		0.443	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		A	141952090	T	A	141952090	3	1	329	1	0	0	0	0	1	0	0	0	16604	1841	64	5	52	5	TRYX3	7	141952090	Missense_Mutation	SNP	T	TCGA-29-1698-01A-01W-0633-09	40763380	141952090	17186573	21	17596											
PTGS1	5742	genome.wustl.edu	37	9	125154768	125154768	+	Missense_Mutation	SNP	C	C	T	rs201836968		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr9:125154768C>T	ENST00000362012.2	+	11	1750	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PTGS1_ENST00000373698.5_Missense_Mutation_p.P473L|PTGS1_ENST00000223423.4_Missense_Mutation_p.P545L|PTGS1_ENST00000540753.1_Missense_Mutation_p.P520L	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	582					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCCGTGTGCCGGATGCCAGT	0.572																																																0			9											91	79	83					9																	125154768		2203	4300	6503	124194589	SO:0001583	missense	5742			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1745C>T	9.37:g.125154768C>T	ENSP00000354612:p.Pro582Leu		124194589	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382749	0.61845	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.62364	0.03;0.7;0.17;0.55	5.56	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.948;0.985	T	0.81136	-0.1070	10	0.66056	D	0.02	-19.1666	14.832	0.70156	0.1449:0.8551:0.0:0.0	.	520;582;545	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	L	520;582;545;473	ENSP00000437709:P520L;ENSP00000354612:P582L;ENSP00000223423:P545L;ENSP00000362802:P473L	ENSP00000223423:P545L	P	+	2	0	PTGS1	124194589	1.000000	0.71417	0.566000	0.28421	0.139000	0.21198	7.516000	0.81772	1.328000	0.45358	0.655000	0.94253	CCG		0.572	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			T	125154768	C	T	125154768	3	4	329	1	0	0	0	0	1	0	0	0	12758	652	23	1	1787	1	PTGS1	9	125154768	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09		125154768	16058663	22	17597											
OR1L4	254973	genome.wustl.edu	37	9	125486474	125486474	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr9:125486474T>C	ENST00000259466.1	+	1	206	c.206T>C	c.(205-207)tTc>tCc	p.F69S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AACTTGTCTTTCATGGATATC	0.463																																																0			9											114	111	112					9																	125486474		2203	4297	6500	124526295	SO:0001583	missense	254973				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.206T>C	9.37:g.125486474T>C	ENSP00000259466:p.Phe69Ser		124526295	Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	14.04	2.415717	0.42817	.	.	ENSG00000136939	ENST00000259466	T	0.01005	5.45	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.116852	0.38959	N	0.001507	T	0.02083	0.0065	M	0.86097	2.795	0.38448	D	0.946878	P	0.42078	0.77	B	0.37550	0.253	T	0.48768	-0.9006	10	0.66056	D	0.02	-39.5612	11.9024	0.52690	0.0:0.0:0.0:1.0	.	69	Q8NGR5	OR1L4_HUMAN	S	69	ENSP00000259466:F69S	ENSP00000259466:F69S	F	+	2	0	OR1L4	124526295	0.817000	0.29147	1.000000	0.80357	0.890000	0.51754	4.746000	0.62133	1.642000	0.50584	0.248000	0.18094	TTC		0.463	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			C	125486474	T	C	125486474	3	2	329	1	0	0	0	0	1	0	0	0	10965	1783	62	4	208	4	OR1L4	9	125486474	Missense_Mutation	SNP	T	TCGA-29-1698-01A-01W-0633-09	331706	125486474	15726957	23	17598											
ZNF79	7633	genome.wustl.edu	37	9	130206590	130206590	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr9:130206590A>G	ENST00000342483.5	+	5	1017	c.611A>G	c.(610-612)tAc>tGc	p.Y204C	ZNF79_ENST00000543471.1_Missense_Mutation_p.Y180C	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GCCTTCAGTTACTGTTCTTCC	0.468																																																0			9											104	99	101					9																	130206590		2203	4300	6503	129246411	SO:0001583	missense	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.611A>G	9.37:g.130206590A>G	ENSP00000362446:p.Tyr204Cys		129246411	Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694110	0.48202	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.08546	3.08;3.08	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	L	0.33710	1.025	0.30280	N	0.791418	D	0.63880	0.993	P	0.55965	0.788	T	0.03166	-1.1065	9	0.38643	T	0.18	.	10.9424	0.47281	1.0:0.0:0.0:0.0	.	204	Q15937	ZNF79_HUMAN	C	204;180	ENSP00000362446:Y204C;ENSP00000438418:Y180C	ENSP00000362446:Y204C	Y	+	2	0	ZNF79	129246411	0.002000	0.14202	1.000000	0.80357	0.993000	0.82548	1.838000	0.39211	1.691000	0.51100	0.533000	0.62120	TAC		0.468	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		G	130206590	A	G	130206590	3	3	329	1	0	0	0	0	1	0	0	0	18161	391	14	4	629	4	ZNF79	9	130206590	Missense_Mutation	SNP	A	TCGA-29-1698-01A-01W-0633-09	4720116	130206590	11006841	24	17599											
C9orf114	51490	genome.wustl.edu	37	9	131589440	131589440	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr9:131589440G>A	ENST00000361256.5	-	4	279	c.239C>T	c.(238-240)cCg>cTg	p.P80L		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	80							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						GATGGAGCCCGGCAGGGCTAC	0.617																																																0			9											57	53	54					9																	131589440		2203	4300	6503	130629261	SO:0001583	missense	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.239C>T	9.37:g.131589440G>A	ENSP00000354812:p.Pro80Leu		130629261	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	CCDS6913.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311090	0.95629	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.64260	-0.09	5.37	5.37	0.77165	.	0.051410	0.85682	N	0.000000	D	0.86218	0.5880	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90568	0.4520	10	0.87932	D	0	-9.957	18.1483	0.89665	0.0:0.0:1.0:0.0	.	80;80	E7ESY7;Q5T280	.;CI114_HUMAN	L	80	ENSP00000354812:P80L	ENSP00000354812:P80L	P	-	2	0	C9orf114	130629261	1.000000	0.71417	0.978000	0.43139	0.919000	0.55068	9.716000	0.98752	2.532000	0.85374	0.555000	0.69702	CCG		0.617	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		A	131589440	G	A	131589440	3	1	329	1	0	0	0	0	1	0	0	0	2449	1116	39	1	927	1	C9orf114	9	131589440	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09	1382850	131589440	9623991	25	17600											
USP6NL	9712	genome.wustl.edu	37	10	11505528	11505528	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr10:11505528C>A	ENST00000609104.1	-	15	1793	c.1399G>T	c.(1399-1401)Gca>Tca	p.A467S	USP6NL_ENST00000379237.2_Missense_Mutation_p.A490S|USP6NL_ENST00000277575.5_Missense_Mutation_p.A484S	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	467					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TTGGCAGCTGCGTGATTATAT	0.463																																																0			10											163	159	160					10																	11505528		1957	4153	6110	11545534	SO:0001583	missense	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1399G>T	10.37:g.11505528C>A	ENSP00000476462:p.Ala467Ser		11545534	A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429027	0.83667	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.07800	3.16;3.18	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.68952	2.095	0.58432	D	0.99999	D;D	0.71674	0.997;0.998	P;D	0.68192	0.904;0.956	T	0.00046	-1.2214	10	0.40728	T	0.16	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	467;484	Q92738;Q92738-2	US6NL_HUMAN;.	S	467;484;467	ENSP00000277575:A484S;ENSP00000368539:A467S	ENSP00000277575:A484S	A	-	1	0	USP6NL	11545534	1.000000	0.71417	0.286000	0.24833	0.654000	0.38779	4.131000	0.57970	2.873000	0.98535	0.561000	0.74099	GCA		0.463	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		A	11505528	C	A	11505528	3	1	329	1	0	0	0	0	1	0	0	0	17087	768	27	3	1091	3	USP6NL	10	11505528	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09		11505528	124029219	26	17601											
ERCC6	2074	genome.wustl.edu	37	10	50701242	50701242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr10:50701242C>T	ENST00000355832.5	-	8	1820	c.1742G>A	c.(1741-1743)tGg>tAg	p.W581*	ERCC6_ENST00000542458.1_Intron	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	581	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCCTTCACCCACTGATGCAT	0.448								Direct reversal of damage;Nucleotide excision repair (NER)																																								0			10											120	104	110					10																	50701242		2203	4300	6503	50371248	SO:0001587	stop_gained	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1742G>A	10.37:g.50701242C>T	ENSP00000348089:p.Trp581*		50371248	D3DX94|Q5W0L9	Nonsense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	39	7.831292	0.98513	.	.	ENSG00000225830	ENST00000355832	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7414	19.3425	0.94349	0.0:1.0:0.0:0.0	.	.	.	.	X	581	.	ENSP00000348089:W581X	W	-	2	0	ERCC6	50371248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.643000	0.89663	0.557000	0.71058	TGG		0.448	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		T	50701242	C	T	50701242	4	4	329	1	0	0	0	0	0	1	0	0	5217	595	21	2	2795	2	ERCC6	10	50701242	Nonsense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09	39195714	50701242	84833505	27	17602											
LDB3	11155	genome.wustl.edu	37	10	88446896	88446896	+	Missense_Mutation	SNP	G	G	A	rs374613600		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr10:88446896G>A	ENST00000372066.3	+	5	494	c.415G>A	c.(415-417)Gag>Aag	p.E139K	LDB3_ENST00000372056.4_Missense_Mutation_p.E254K|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000429277.2_Missense_Mutation_p.E254K|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000458213.2_Missense_Mutation_p.E139K|LDB3_ENST00000263066.6_Missense_Mutation_p.E139K|LDB3_ENST00000352360.5_Intron	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CAAGCCCATCGAGGTGAAGGG	0.637													G|||	1	0.000199681	0	0	5008	,	,		19489	0		0	False		,,,				2504	0.001															0			10											139	162	154					10																	88446896		2128	4230	6358	88436876	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.415G>A	10.37:g.88446896G>A	ENSP00000361136:p.Glu139Lys		88436876		Missense_Mutation	SNP	ENST00000372066.3	37	CCDS41545.1	.	.	.	.	.	.	.	.	.	.	G	36	5.607838	0.96626	.	.	ENSG00000122367	ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.0	5.0	0.66597	.	.	.	.	.	D	0.91543	0.7329	N	0.25485	0.75	0.80722	D	1	D;D;D;B	0.89917	0.999;1.0;0.999;0.212	P;D;P;B	0.66497	0.771;0.944;0.885;0.026	D	0.91228	0.5012	9	0.36615	T	0.2	.	18.2879	0.90120	0.0:0.0:1.0:0.0	.	254;254;139;139	B4E3K3;O75112-4;O75112-2;O75112-6	.;.;.;.	K	254;139;139;139;254	ENSP00000401437:E254K;ENSP00000409148:E139K;ENSP00000361136:E139K;ENSP00000263066:E139K;ENSP00000361126:E254K	ENSP00000263066:E139K	E	+	1	0	LDB3	88436876	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.843000	0.99491	2.319000	0.78375	0.462000	0.41574	GAG		0.637	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			A	88446896	G	A	88446896	3	1	329	1	0	0	0	0	1	0	0	0	8697	1059	37	1	805	1	LDB3	10	88446896	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09	37745654	88446896	47087851	28	17603											
COPB1	1315	genome.wustl.edu	37	11	14501234	14501236	+	In_Frame_Del	DEL	GTT	GTT	-	rs149921106		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	GTT	GTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:14501234_14501236delGTT	ENST00000249923.3	-	11	1537_1539	c.1237_1239delAAC	c.(1237-1239)aacdel	p.N413del	COPB1_ENST00000439561.2_In_Frame_Del_p.N413del|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	413					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.N413N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTGCTGCTTCGTTGTTGTCACTG	0.335																																																1	Substitution - coding silent(1)	lung(1)	11																																								14457812	SO:0001651	inframe_deletion	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1237_1239delAAC	11.37:g.14501237_14501239delGTT	ENSP00000249923:p.Asn413del		14457810	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	In_Frame_Del	DEL	ENST00000249923.3	37	CCDS7815.1																																																																																				0.335	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		-	14501236	GTT	-	14501234	7	5	329	1	0	1	0	1	0	0	0	0	3728	1136	40	0	1670	0	COPB1	11	14501234	In_Frame_Del	DEL	GTT	TCGA-29-1698-01A-01W-0633-09		14501234	120505282	29	17604											
COMMD9	29099	genome.wustl.edu	37	11	36296322	36296322	+	Splice_Site	SNP	T	T	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:36296322T>G	ENST00000263401.5	-	6	473	c.457A>C	c.(457-459)Atc>Ctc	p.I153L	COMMD9_ENST00000532705.1_Splice_Site_p.D141A|LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000533308.1_5'Flank|COMMD9_ENST00000452374.2_Splice_Site_p.I111L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	153	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TCTTCTTGGATCTGAAACGAG	0.527																																																0			11											120	101	107					11																	36296322		2202	4298	6500	36252898	SO:0001630	splice_region_variant	29099			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.457-1A>C	11.37:g.36296322T>G			36252898	E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	CCDS7900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.65|11.65	1.702374|1.702374	0.30232|0.30232	.|.	.|.	ENSG00000110442|ENSG00000110442	ENST00000532705|ENST00000263401;ENST00000537683;ENST00000452374	.|T;T	.|0.07444	.|3.19;3.19	5.66|5.66	5.66|5.66	0.87406|0.87406	.|COMM domain (1);	.|0.123291	.|0.64402	.|D	.|0.000011	T|T	0.20861|0.20861	0.0502|0.0502	L|L	0.52266|0.52266	1.64|1.64	0.34271|0.34271	D|D	0.681026|0.681026	.|B;D	.|0.58620	.|0.015;0.983	.|B;D	.|0.73708	.|0.023;0.981	T|T	0.17471|0.17471	-1.0368|-1.0368	6|10	0.06494|0.13470	T|T	0.89|0.59	-0.6565|-0.6565	14.8828|14.8828	0.70545|0.70545	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|111;153	.|Q9P000-2;Q9P000	.|.;COMD9_HUMAN	A|L	141|153;153;111	.|ENSP00000263401:I153L;ENSP00000392510:I111L	ENSP00000435599:D141A|ENSP00000263401:I153L	D|I	-|-	2|1	0|0	COMMD9|COMMD9	36252898|36252898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.495000|0.495000	0.33615|0.33615	2.843000|2.843000	0.48238|0.48238	2.147000|2.147000	0.66899|0.66899	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.527	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186	Missense_Mutation	G	36296322	T	G	36296322	5	3	329	1	0	0	0	0	0	0	1	0	3723	1449	50	5	143	5	COMMD9	11	36296322	Splice_Site	SNP	T	TCGA-29-1698-01A-01W-0633-09	21795088	36296322	98710194	30	17605											
C11orf49	79096	genome.wustl.edu	37	11	46958373	46958373	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:46958373G>T	ENST00000278460.7	+	1	76	c.17G>T	c.(16-18)cGc>cTc	p.R6L	C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_5'UTR|C11orf49_ENST00000395460.2_Missense_Mutation_p.R6L|C11orf49_ENST00000378615.3_Missense_Mutation_p.R6L|C11orf49_ENST00000378618.2_Missense_Mutation_p.R6L	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	6						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						AGTCCGGAGCGCCTAGCCCTA	0.607																																																0			11											35	36	35					11																	46958373		2201	4299	6500	46914949	SO:0001583	missense	79096			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.17G>T	11.37:g.46958373G>T	ENSP00000278460:p.Arg6Leu		46914949	D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Missense_Mutation	SNP	ENST00000278460.7	37	CCDS7925.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284015	0.95489	.	.	ENSG00000149179	ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615	.	.	.	5.52	5.52	0.82312	.	0.180207	0.46758	D	0.000271	T	0.76807	0.4039	M	0.64997	1.995	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.992	D;D;D	0.72982	0.979;0.969;0.969	T	0.77373	-0.2612	9	0.66056	D	0.02	-24.7592	16.4664	0.84080	0.0:0.0:1.0:0.0	.	6;6;6	E9PAX7;Q9H6J7-2;Q9H6J7	.;.;CK049_HUMAN	L	6	.	ENSP00000278460:R6L	R	+	2	0	C11orf49	46914949	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.218000	0.65257	2.873000	0.98535	0.563000	0.77884	CGC		0.607	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113		T	46958373	G	T	46958373	3	4	329	1	0	0	0	0	1	0	0	0	1645	1087	38	3	19	3	C11orf49	11	46958373	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09	10662051	46958373	88048143	31	17606											
SPTBN2	6712	genome.wustl.edu	37	11	66455659	66455659	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:66455659A>T	ENST00000533211.1	-	32	6686	c.6355T>A	c.(6355-6357)Tct>Act	p.S2119T	SPTBN2_ENST00000529997.1_Missense_Mutation_p.S2119T|SPTBN2_ENST00000309996.2_Missense_Mutation_p.S2119T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2119					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTGGTGTCAGAAGCTGTCTGG	0.637																																																0			11											46	51	49					11																	66455659		2200	4295	6495	66212235	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6355T>A	11.37:g.66455659A>T	ENSP00000432568:p.Ser2119Thr		66212235	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	A	8.508	0.865767	0.17250	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.70282	-0.47;-0.47;-0.46	5.3	2.32	0.28847	.	0.438585	0.22682	N	0.056925	T	0.43743	0.1261	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.19811	-1.0294	10	0.18710	T	0.47	.	6.1955	0.20548	0.1785:0.1568:0.6647:0.0	.	2119	O15020	SPTN2_HUMAN	T	2119;2119;2119;663	ENSP00000432568:S2119T;ENSP00000311489:S2119T;ENSP00000433593:S2119T	ENSP00000311489:S2119T	S	-	1	0	SPTBN2	66212235	0.024000	0.19004	0.011000	0.14972	0.278000	0.26855	1.273000	0.33121	0.716000	0.32124	-0.132000	0.14878	TCT		0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		T	66455659	A	T	66455659	3	4	329	1	0	0	0	0	1	0	0	0	15122	246	9	5	845	5	SPTBN2	11	66455659	Missense_Mutation	SNP	A	TCGA-29-1698-01A-01W-0633-09	19497286	66455659	68550857	32	17607											
NUMA1	4926	genome.wustl.edu	37	11	71724258	71724258	+	Missense_Mutation	SNP	C	C	T	rs370967498		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:71724258C>T	ENST00000393695.3	-	15	4622	c.4291G>A	c.(4291-4293)Gcc>Acc	p.A1431T	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1431T	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCATAGCTGGCCTTCTCTGCC	0.657			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0			11						C	THR/ALA	0,4400		0,0,2200	56	58	57		4291	5.1	1	11		57	1,8585	1.2+/-3.3	0,1,4292	no	missense	NUMA1	NM_006185.2	58	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1431/2116	71724258	1,12985	2200	4293	6493	71401906	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4291G>A	11.37:g.71724258C>T	ENSP00000377298:p.Ala1431Thr		71401906		Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719859	0.68844	0.0	1.16E-4	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.14266	2.52;2.52	5.14	5.14	0.70334	.	0.000000	0.53938	D	0.000051	T	0.18087	0.0434	N	0.19112	0.55	0.32687	N	0.514748	D;D;D;D	0.65815	0.988;0.995;0.965;0.988	P;P;P;P	0.60682	0.878;0.843;0.647;0.878	T	0.05321	-1.0892	10	0.54805	T	0.06	.	10.0855	0.42415	0.0:0.8756:0.0:0.1244	.	1437;915;1431;1431	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	T	1431;1431;994;400	ENSP00000351851:A1431T;ENSP00000377298:A1431T	ENSP00000351851:A1431T	A	-	1	0	NUMA1	71401906	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.920000	0.48844	2.665000	0.90641	0.655000	0.94253	GCC		0.657	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			T	71724258	C	T	71724258	3	4	329	1	0	0	0	0	1	0	0	0	10750	739	26	2	2108	2	NUMA1	11	71724258	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09	5268599	71724258	63282258	33	17608											
C2CD3	26005	genome.wustl.edu	37	11	73795980	73795981	+	Frame_Shift_Del	DEL	AC	AC	-	rs138900479		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	AC	AC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:73795980_73795981delAC	ENST00000334126.7	-	22	4171_4172	c.3945_3946delGT	c.(3943-3948)gagtatfs	p.Y1316fs	C2CD3_ENST00000313663.7_Frame_Shift_Del_p.Y1316fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1316					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCAAGCAGATACTCTTTGCATG	0.371																																																0			11																																								73473629	SO:0001589	frameshift_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3945_3946delGT	11.37:g.73795980_73795981delAC	ENSP00000334379:p.Tyr1316fs		73473628	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Del	DEL	ENST00000334126.7	37																																																																																					0.371	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		-	73795981	AC	-	73795980	7	5	329	1	0	1	0	1	0	0	0	0	2154	391	14	0	1985	0	C2CD3	11	73795980	Frame_Shift_Del	DEL	AC	TCGA-29-1698-01A-01W-0633-09	2071722	73795980	61210536	34	17609	22	2									
C2CD3	26005	genome.wustl.edu	37	11	73795984	73795984	+	Frame_Shift_Del	DEL	T	T	-			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr11:73795984delT	ENST00000334126.7	-	22	4168	c.3942delA	c.(3940-3942)aaafs	p.K1314fs	C2CD3_ENST00000313663.7_Frame_Shift_Del_p.K1314fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1314					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCAGATACTCTTTGCATGACT	0.368																																																0			11											180	157	165					11																	73795984		2200	4293	6493	73473632	SO:0001589	frameshift_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3942delA	11.37:g.73795984delT	ENSP00000334379:p.Lys1314fs		73473632	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Del	DEL	ENST00000334126.7	37																																																																																					0.368	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		-	73795984	T	-	73795984	7	5	329	1	0	1	0	1	0	0	0	0	2154	1606	56	0	1989	0	C2CD3	11	73795984	Frame_Shift_Del	DEL	T	TCGA-29-1698-01A-01W-0633-09	4	73795984	61210532	35	17610	22	2									
NOP2	4839	genome.wustl.edu	37	12	6666622	6666622	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:6666622G>T	ENST00000322166.5	-	16	2097	c.1976C>A	c.(1975-1977)tCa>tAa	p.S659*	NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000545200.1_3'UTR|IFFO1_ENST00000336604.4_5'Flank|IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000541778.1_Nonsense_Mutation_p.S655*|NOP2_ENST00000399466.2_Nonsense_Mutation_p.S655*|NOP2_ENST00000537442.1_Nonsense_Mutation_p.S659*|IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000382421.3_Nonsense_Mutation_p.S692*	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	659					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGACAATTCTGAGTCTGCCCC	0.542																																																0			12											144	142	142					12																	6666622		2080	4219	6299	6536883	SO:0001587	stop_gained	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1976C>A	12.37:g.6666622G>T	ENSP00000313272:p.Ser659*		6536883	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Nonsense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264279	0.59431	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	.	.	.	4.39	4.39	0.52855	.	0.825221	0.10211	N	0.702174	.	.	.	.	.	.	0.48395	D	0.999649	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-0.0407	12.6387	0.56696	0.0:0.0:1.0:0.0	.	.	.	.	X	659;692;655;659;655	.	ENSP00000313272:S659X	S	-	2	0	NOP2	6536883	0.148000	0.22702	0.006000	0.13384	0.010000	0.07245	1.767000	0.38501	2.424000	0.82194	0.655000	0.94253	TCA		0.542	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		T	6666622	G	T	6666622	4	4	329	1	0	0	0	0	0	1	0	0	10538	1294	45	3	466	3	NOP2	12	6666622	Nonsense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09		6666622	127185273	36	17611											
ACRBP	84519	genome.wustl.edu	37	12	6749262	6749262	+	Silent	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:6749262C>T	ENST00000229243.2	-	8	1482	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	ACRBP_ENST00000414226.2_Silent_p.E430E|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGCTAAGGAACTCAGTCTGGA	0.557																																																0			12											76	75	75					12																	6749262		2203	4300	6503	6619523	SO:0001819	synonymous_variant	84519			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"proacrosin binding protein sp32", "cancer/testis antigen 23"	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1389G>A	12.37:g.6749262C>T			6619523		Silent	SNP	ENST00000229243.2	37	CCDS8554.1																																																																																				0.557	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		T	6749262	C	T	6749262	2	4	329	1	0	0	0	0	0	0	0	1	170	564	20	2		2	ACRBP	12	6749262	Silent	SNP	C	TCGA-29-1698-01A-01W-0633-09	82640	6749262	127102633	37	17612											
FGD6	55785	genome.wustl.edu	37	12	95485582	95485582	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:95485582C>G	ENST00000343958.4	-	17	3974	c.3751G>C	c.(3751-3753)Gta>Cta	p.V1251L	FGD6_ENST00000546711.1_Missense_Mutation_p.V1251L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1251					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GCTTGGCATACAATCTGAAAA	0.328																																																0			12											90	82	85					12																	95485582		2203	4300	6503	94009713	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3751G>C	12.37:g.95485582C>G	ENSP00000344446:p.Val1251Leu		94009713	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834581	0.71373	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521	T;T;T	0.73469	-0.75;-0.75;-0.75	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.000000	0.42964	D	0.000629	D	0.82398	0.5028	M	0.65498	2.005	0.43652	D	0.996064	D;D	0.64830	0.994;0.993	D;P	0.67103	0.949;0.869	T	0.83216	-0.0071	10	0.66056	D	0.02	-18.1559	10.1121	0.42568	0.0:0.8506:0.0:0.1494	.	1251;1251	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	L	1251;1251;247	ENSP00000344446:V1251L;ENSP00000450342:V1251L;ENSP00000450240:V247L	ENSP00000344446:V1251L	V	-	1	0	FGD6	94009713	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.078000	0.50096	2.685000	0.91497	0.561000	0.74099	GTA		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		G	95485582	C	G	95485582	3	3	329	1	0	0	0	0	1	0	0	0	5837	478	17	3	561	3	FGD6	12	95485582	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09	88736320	95485582	38366313	38	17613											
ISCU	23479	genome.wustl.edu	37	12	108959197	108959197	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr12:108959197A>C	ENST00000311893.9	+	3	351	c.329A>C	c.(328-330)aAa>aCa	p.K110T	ISCU_ENST00000539593.1_Missense_Mutation_p.K110T|ISCU_ENST00000431221.2_Missense_Mutation_p.K110T|ISCU_ENST00000392807.4_Missense_Mutation_p.K85T|ISCU_ENST00000547005.1_Missense_Mutation_p.K110T|ISCU_ENST00000535729.1_Missense_Mutation_p.K110T|ISCU_ENST00000338291.4_Missense_Mutation_p.K85T	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	110					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GAATGGGTGAAAGGAAAGACG	0.378																																																0			12											91	92	92					12																	108959197		2203	4300	6503	107483326	SO:0001583	missense	23479			U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"NifU-like N-terminal domain containing", "IscU iron-sulfur cluster scaffold homolog (E. coli)", "iron-sulfur cluster scaffold homolog (E. coli)"	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.329A>C	12.37:g.108959197A>C	ENSP00000310623:p.Lys110Thr		107483326	Q6P713|Q99617|Q9H1K2	Missense_Mutation	SNP	ENST00000311893.9	37	CCDS44966.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552469	0.86127	.	.	ENSG00000136003	ENST00000535729;ENST00000431221;ENST00000547005;ENST00000311893;ENST00000392807;ENST00000338291;ENST00000539593	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.13;-1.17;-1.17	5.53	5.53	0.82687	NIF system FeS cluster assembly, NifU, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	M	0.91872	3.25	0.80722	D	1	D;D;P;P;P;D	0.57571	0.964;0.98;0.805;0.956;0.904;0.961	D;D;D;D;P;D	0.74023	0.952;0.982;0.923;0.92;0.893;0.952	D	0.92206	0.5772	10	0.87932	D	0	.	14.6302	0.68650	1.0:0.0:0.0:0.0	.	110;110;110;110;85;85	B3KQ30;Q9H1K1;B4DNC9;F5H5N2;B1P7G3;Q9H1K1-2	.;ISCU_HUMAN;.;.;.;.	T	110;110;110;110;85;85;110	ENSP00000445598:K110T;ENSP00000411108:K110T;ENSP00000446606:K110T;ENSP00000310623:K110T;ENSP00000376554:K85T;ENSP00000344584:K85T;ENSP00000443272:K110T	ENSP00000310623:K110T	K	+	2	0	ISCU	107483326	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.522000	0.90573	2.103000	0.63969	0.533000	0.62120	AAA		0.378	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301		C	108959197	A	C	108959197	3	2	329	1	0	0	0	0	1	0	0	0	7852	14	1	5	264	5	ISCU	12	108959197	Missense_Mutation	SNP	A	TCGA-29-1698-01A-01W-0633-09	13473615	108959197	24892698	39	17614											
RNASEH2B	79621	genome.wustl.edu	37	13	51519633	51519639	+	Frame_Shift_Del	DEL	TTTTCTC	TTTTCTC	-			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	TTTTCTC	TTTTCTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr13:51519633_51519639delTTTTCTC	ENST00000336617.3	+	7	980_986	c.581_587delTTTTCTC	c.(580-588)tttttctctfs	p.FFS194fs	RNASEH2B_ENST00000422660.1_Frame_Shift_Del_p.FFS194fs|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	194					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TCAACTGCATTTTTCTCTGGTGACCAA	0.401																																																0			13																																								50417640	SO:0001589	frameshift_variant	79621			AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"deleted in lymphocytic leukemia 8", "Aicardi-Goutieres syndrome 2"	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.581_587delTTTTCTC	13.37:g.51519633_51519639delTTTTCTC	ENSP00000337623:p.Phe194fs		50417634	G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Del	DEL	ENST00000336617.3	37	CCDS9425.1																																																																																				0.401	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		-	51519639	TTTTCTC	-	51519633	7	5	329	1	0	1	0	1	0	0	0	0	13416	1841	64	0	607	0	RNASEH2B	13	51519633	Frame_Shift_Del	DEL	TTTTCTC	TCGA-29-1698-01A-01W-0633-09		51519633	63650245	40	17615											
TFDP1	7027	genome.wustl.edu	37	13	114288336	114288336	+	Silent	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr13:114288336T>C	ENST00000375370.5	+	7	818	c.606T>C	c.(604-606)tgT>tgC	p.C202C	TFDP1_ENST00000538138.1_Silent_p.C107C|TFDP1_ENST00000544902.1_Silent_p.C107C	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	202					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTCAGGAATGTCAGAACTTAG	0.498										TSP Lung(29;0.18)																																						0			13											109	94	99					13																	114288336		2203	4300	6503	113336337	SO:0001819	synonymous_variant	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.606T>C	13.37:g.114288336T>C			113336337	B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	CCDS9538.1																																																																																				0.498	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		C	114288336	T	C	114288336	2	2	329	1	0	0	0	0	0	0	0	1	15797	1673	58	4		4	TFDP1	13	114288336	Silent	SNP	T	TCGA-29-1698-01A-01W-0633-09	62768703	114288336	881542	41	17616											
BAZ1A	11177	genome.wustl.edu	37	14	35227976	35227976	+	Silent	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr14:35227976T>C	ENST00000382422.2	-	24	4647	c.4320A>G	c.(4318-4320)caA>caG	p.Q1440Q	BAZ1A_ENST00000358716.4_Silent_p.Q1408Q|BAZ1A_ENST00000360310.1_Silent_p.Q1440Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1440					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTACAACAAGTTGTTCAAAAG	0.393																																																0			14											103	95	98					14																	35227976		2203	4300	6503	34297727	SO:0001819	synonymous_variant	11177			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4320A>G	14.37:g.35227976T>C			34297727	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	37	CCDS9651.1																																																																																				0.393	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			C	35227976	T	C	35227976	2	2	329	1	0	0	0	0	0	0	0	1	1329	1722	60	4		4	BAZ1A	14	35227976	Silent	SNP	T	TCGA-29-1698-01A-01W-0633-09		35227976	72121564	42	17617											
SMOC1	64093	genome.wustl.edu	37	14	70420157	70420157	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr14:70420157C>T	ENST00000381280.4	+	3	539	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	SMOC1_ENST00000361956.3_Missense_Mutation_p.R96C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	96	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GAGCAAGTGTCGCCTGGAGCG	0.557																																																0			14											116	114	114					14																	70420157		2203	4300	6503	69489910	SO:0001583	missense	64093			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.286C>T	14.37:g.70420157C>T	ENSP00000370680:p.Arg96Cys		69489910	A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143519	0.57044	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.65916	-0.18;-0.18	5.62	4.71	0.59529	Thyroglobulin type-1 (3);	0.185034	0.48286	D	0.000194	T	0.74884	0.3775	M	0.71871	2.18	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.65010	0.931;0.91	T	0.76716	-0.2857	10	0.56958	D	0.05	-9.8869	11.994	0.53191	0.1369:0.7314:0.1317:0.0	.	96;96	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	C	96	ENSP00000355110:R96C;ENSP00000370680:R96C	ENSP00000355110:R96C	R	+	1	0	SMOC1	69489910	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	2.708000	0.47152	1.323000	0.45263	0.591000	0.81541	CGC		0.557	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			T	70420157	C	T	70420157	3	4	329	1	0	0	0	0	1	0	0	0	14804	884	31	1	296	1	SMOC1	14	70420157	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09	35192181	70420157	36929383	43	17618											
CLMN	79789	genome.wustl.edu	37	14	95669593	95669593	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr14:95669593T>A	ENST00000298912.4	-	9	2206	c.2093A>T	c.(2092-2094)gAg>gTg	p.E698V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	698					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCCAAGGGTCTCCAAGCTGAC	0.562																																																0			14											54	53	54					14																	95669593		2203	4300	6503	94739346	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2093A>T	14.37:g.95669593T>A	ENSP00000298912:p.Glu698Val		94739346	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493498	0.64186	.	.	ENSG00000165959	ENST00000298912	D	0.96104	-3.91	5.47	5.47	0.80525	.	0.000000	0.41938	D	0.000781	D	0.97096	0.9051	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97655	1.0157	10	0.87932	D	0	.	13.8196	0.63311	0.0:0.0:0.0:1.0	.	698	Q96JQ2	CLMN_HUMAN	V	698	ENSP00000298912:E698V	ENSP00000298912:E698V	E	-	2	0	CLMN	94739346	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.283000	0.51701	2.078000	0.62432	0.528000	0.53228	GAG		0.562	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			A	95669593	T	A	95669593	3	1	329	1	0	0	0	0	1	0	0	0	3542	1551	54	5	935	5	CLMN	14	95669593	Missense_Mutation	SNP	T	TCGA-29-1698-01A-01W-0633-09	25249436	95669593	11679947	44	17619											
PAK6	56924	genome.wustl.edu	37	15	40568133	40568133	+	Silent	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr15:40568133C>T	ENST00000542403.2	+	9	1995	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	PAK6_ENST00000260404.4_Silent_p.S628S|PAK6_ENST00000441369.1_Silent_p.S628S|PAK6_ENST00000453867.1_Silent_p.S628S|PAK6_ENST00000560346.1_Silent_p.S628S|PAK6_ENST00000455577.2_Silent_p.S583S|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	628	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TACAGGTCTCCCCAGTGCTGC	0.557																																																0			15											89	87	88					15																	40568133		2203	4300	6503	38355425	SO:0001819	synonymous_variant	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1884C>T	15.37:g.40568133C>T			38355425	A8K2G2|B3KYB0|G5E9R2	Silent	SNP	ENST00000542403.2	37	CCDS10054.1																																																																																				0.557	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			T	40568133	C	T	40568133	2	4	329	1	0	0	0	0	0	0	0	1	11404	610	22	2		2	PAK6	15	40568133	Silent	SNP	C	TCGA-29-1698-01A-01W-0633-09		40568133	61963259	45	17620											
KIAA0556	23247	genome.wustl.edu	37	16	27789034	27789034	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr16:27789034C>A	ENST00000261588.4	+	26	4674	c.4655C>A	c.(4654-4656)aCc>aAc	p.T1552N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1552						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCCTACCACACCATCCTCTTC	0.642																																																0			16											121	99	106					16																	27789034		2197	4300	6497	27696535	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4655C>A	16.37:g.27789034C>A	ENSP00000261588:p.Thr1552Asn		27696535	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870390	0.91587	.	.	ENSG00000047578	ENST00000261588	T	0.12774	2.65	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.66939	2.045	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.21655	-1.0239	10	0.87932	D	0	-43.3604	17.7289	0.88372	0.0:1.0:0.0:0.0	.	1552	O60303	K0556_HUMAN	N	1552	ENSP00000261588:T1552N	ENSP00000261588:T1552N	T	+	2	0	KIAA0556	27696535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.415000	0.80131	2.340000	0.79590	0.561000	0.74099	ACC		0.642	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		A	27789034	C	A	27789034	3	1	329	1	0	0	0	0	1	0	0	0	8183	507	18	3	4757	3	KIAA0556	16	27789034	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09		27789034	62565719	46	17621											
VPS53	55275	genome.wustl.edu	37	17	559155	559155	+	Silent	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:559155G>A	ENST00000571805.1	-	6	547	c.411C>T	c.(409-411)caC>caT	p.H137H	VPS53_ENST00000446250.2_De_novo_Start_OutOfFrame|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Silent_p.H108H|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000437048.2_Silent_p.H137H|VPS53_ENST00000401468.3_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	137					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGCGTTTGGCGTGATCTAATT	0.448																																																0			17											241	193	209					17																	559155		2203	4300	6503	505905	SO:0001819	synonymous_variant	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.411C>T	17.37:g.559155G>A			505905	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37																																																																																					0.448	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		A	559155	G	A	559155	2	1	329	1	0	0	0	0	0	0	0	1	17215	1136	40	1		1	VPS53	17	559155	Silent	SNP	G	TCGA-29-1698-01A-01W-0633-09		559155	80636055	47	17622											
ACAP1	9744	genome.wustl.edu	37	17	7250361	7250361	+	Silent	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:7250361C>T	ENST00000158762.3	+	14	1349	c.1143C>T	c.(1141-1143)caC>caT	p.H381H		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	381	Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCTCAGGACACCTGGCCATAG	0.682																																																0			17											22	22	22					17																	7250361		2203	4298	6501	7191085	SO:0001819	synonymous_variant	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1143C>T	17.37:g.7250361C>T			7191085	Q53XN9	Silent	SNP	ENST00000158762.3	37	CCDS11101.1																																																																																				0.682	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		T	7250361	C	T	7250361	2	4	329	1	0	0	0	0	0	0	0	1	118	506	18	2		2	ACAP1	17	7250361	Silent	SNP	C	TCGA-29-1698-01A-01W-0633-09	6691206	7250361	73944849	48	17623											
TP53	7157	genome.wustl.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)	CGGATAAGATGCTGAGGAGGG	0.557		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"	85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	17											95	85	88					17																	7578272		2203	4300	6503	7518997	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.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr		7518997	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	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	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	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578272	G	A	7578272	3	1	329	1	0	0	0	0	1	0	0	0	16381	1319	46	2	717	2	TP53	17	7578272	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09	327911	7578272	73616938	49	17624											
RAPGEFL1	51195	genome.wustl.edu	37	17	38345218	38345218	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:38345218G>T	ENST00000456989.2	+	5	527	c.481G>T	c.(481-483)Ggc>Tgc	p.G161C	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.G106C|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.G106C|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.G155C			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	312					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGCCTTCCGGGGCTCTGATGA	0.612																																					Esophageal Squamous(28;274 750 6870 14218 42203)											0			17											37	40	39					17																	38345218		2203	4300	6503	35598744	SO:0001583	missense	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.481G>T	17.37:g.38345218G>T	ENSP00000394530:p.Gly161Cys		35598744		Missense_Mutation	SNP	ENST00000456989.2	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.190825	0.78789	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.73	5.73	0.89815	Ras guanine nucleotide exchange factor, domain (1);	0.124912	0.53938	D	0.000059	T	0.61123	0.2322	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.58685	-0.7593	10	0.51188	T	0.08	.	18.65	0.91427	0.0:0.0:1.0:0.0	.	42;312	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	C	161;106;155;106;311;106	ENSP00000394530:G161C;ENSP00000440226:G106C;ENSP00000438631:G155C;ENSP00000408322:G106C	ENSP00000264644:G311C	G	+	1	0	RAPGEFL1	35598744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.705000	0.74644	2.695000	0.91970	0.655000	0.94253	GGC		0.612	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		T	38345218	G	T	38345218	3	4	329	1	0	0	0	0	1	0	0	0	13052	1232	43	3	326	3	RAPGEFL1	17	38345218	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09	30766946	38345218	42849992	50	17625											
HSPB9	94086	genome.wustl.edu	37	17	40275327	40275327	+	Silent	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:40275327G>A	ENST00000355067.3	+	1	572	c.459G>A	c.(457-459)aaG>aaA	p.K153K	CTD-2132N18.3_ENST00000592574.1_Intron|KAT2A_ENST00000225916.5_5'Flank	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	153					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCGGCTCTAAGGCTTCCAACC	0.627																																																0			17											52	53	53					17																	40275327		2202	4300	6502	37528853	SO:0001819	synonymous_variant	94086			AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"Heat shock proteins / HSPB"	30589	protein-coding gene	gene with protein product	"cancer/testis antigen 51"	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.459G>A	17.37:g.40275327G>A			37528853	B3KSG6|Q52LB4	Silent	SNP	ENST00000355067.3	37	CCDS11418.1																																																																																				0.627	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	NM_033194		A	40275327	G	A	40275327	2	1	329	1	0	0	0	0	0	0	0	1	7424	991	35	2		2	HSPB9	17	40275327	Silent	SNP	G	TCGA-29-1698-01A-01W-0633-09	1930109	40275327	40919883	51	17626											
GGA3	23163	genome.wustl.edu	37	17	73239646	73239646	+	Silent	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr17:73239646C>A	ENST00000245541.6	-	5	522	c.306G>T	c.(304-306)ctG>ctT	p.L102L	GGA3_ENST00000538886.1_5'UTR|GGA3_ENST00000582717.1_Silent_p.L30L|GGA3_ENST00000351904.7_Silent_p.L69L|GGA3_ENST00000582486.1_Silent_p.L30L|GGA3_ENST00000537686.1_Silent_p.L102L|GGA3_ENST00000578348.1_5'UTR|GGA3_ENST00000579743.1_5'UTR	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	102	Binds to ARF1 (in long isoform).|VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCCTGTCCCCCAGGTACTACA	0.522																																																0			17											114	93	100					17																	73239646		2203	4300	6503	70751241	SO:0001819	synonymous_variant	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.306G>T	17.37:g.73239646C>A			70751241	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	ENST00000245541.6	37	CCDS11717.1																																																																																				0.522	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		A	73239646	C	A	73239646	2	1	329	1	0	0	0	0	0	0	0	1	6354	581	21	3		3	GGA3	17	73239646	Silent	SNP	C	TCGA-29-1698-01A-01W-0633-09	32964319	73239646	7955564	52	17627											
DSG4	147409	genome.wustl.edu	37	18	28968881	28968881	+	Missense_Mutation	SNP	G	G	T	rs76399598		TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr18:28968881G>T	ENST00000308128.4	+	5	552	c.417G>T	c.(415-417)agG>agT	p.R139S	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.R139S	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	139	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTTAGAAAGGCCTCTTGAGC	0.398																																																0			18											109	110	110					18																	28968881		2203	4299	6502	27222879	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.417G>T	18.37:g.28968881G>T	ENSP00000311859:p.Arg139Ser		27222879	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304764	0.40795	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.46063	0.88;0.88	6.11	-10.3	0.00346	Cadherin (4);Cadherin-like (1);	0.411060	0.17980	N	0.155551	T	0.17492	0.0420	L	0.31420	0.93	0.23132	N	0.998241	B;B	0.16802	0.019;0.01	B;B	0.18871	0.02;0.023	T	0.05989	-1.0852	10	0.22706	T	0.39	.	3.6053	0.08039	0.525:0.1547:0.0865:0.2337	.	139;139	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	139	ENSP00000311859:R139S;ENSP00000352785:R139S	ENSP00000311859:R139S	R	+	3	2	DSG4	27222879	0.012000	0.17670	0.417000	0.26559	0.979000	0.70002	-1.336000	0.02660	-1.769000	0.01297	-0.136000	0.14681	AGG		0.398	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28968881	G	T	28968881	3	4	329	1	0	0	0	0	1	0	0	0	4779	1194	42	3	435	3	DSG4	18	28968881	Missense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09		28968881	49108367	53	17628											
MIER2	54531	genome.wustl.edu	37	19	334516	334516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr19:334516G>A	ENST00000264819.4	-	3	137	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTTGAACTGATGGTCTCCA	0.607																																																0			19											101	91	94					19																	334516		2203	4300	6503	285516	SO:0001587	stop_gained	54531			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.127C>T	19.37:g.334516G>A	ENSP00000264819:p.Gln43*		285516	Q9ULM7	Nonsense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	.	29.5	5.011948	0.93346	.	.	ENSG00000105556	ENST00000264819	.	.	.	4.31	4.31	0.51392	.	0.646310	0.12865	N	0.432820	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-15.3843	14.1023	0.65065	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000264819:Q43X	Q	-	1	0	MIER2	285516	0.983000	0.35010	0.748000	0.31131	0.839000	0.47603	4.009000	0.57110	2.240000	0.73641	0.467000	0.42956	CAG		0.607	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		A	334516	G	A	334516	4	1	329	1	0	0	0	0	0	1	0	0	9581	1299	45	2	1558	2	MIER2	19	334516	Nonsense_Mutation	SNP	G	TCGA-29-1698-01A-01W-0633-09		334516	58794467	54	17629											
SCAF1	58506	genome.wustl.edu	37	19	50154345	50154345	+	Silent	SNP	C	C	A			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr19:50154345C>A	ENST00000360565.3	+	7	823	c.699C>A	c.(697-699)ccC>ccA	p.P233P		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	233	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCTTCCACCCCACCGACGAGG	0.672																																																0			19											39	41	40					19																	50154345		2200	4298	6498	54846157	SO:0001819	synonymous_variant	58506			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.699C>A	19.37:g.50154345C>A			54846157	Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	CCDS33074.1																																																																																				0.672	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		A	50154345	C	A	50154345	2	1	329	1	0	0	0	0	0	0	0	1	13871	581	21	3		3	SCAF1	19	50154345	Silent	SNP	C	TCGA-29-1698-01A-01W-0633-09	49819829	50154345	8974638	55	17630											
SIGLEC7	27036	genome.wustl.edu	37	19	51649164	51649164	+	Silent	SNP	T	T	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr19:51649164T>C	ENST00000317643.6	+	4	882	c.813T>C	c.(811-813)tcT>tcC	p.S271S	SIGLEC7_ENST00000305628.7_Silent_p.S178S|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	271	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AGGGCCAGTCTCTGCGCTTGG	0.542																																																0			19											153	148	149					19																	51649164		2203	4300	6503	56340976	SO:0001819	synonymous_variant	27036			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.813T>C	19.37:g.51649164T>C			56340976	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	CCDS12826.1																																																																																				0.542	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		C	51649164	T	C	51649164	2	2	329	1	0	0	0	0	0	0	0	1	14316	1538	54	4		4	SIGLEC7	19	51649164	Silent	SNP	T	TCGA-29-1698-01A-01W-0633-09	1494819	51649164	7479819	56	17631											
RAB36	9609	genome.wustl.edu	37	22	23495234	23495234	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr22:23495234T>G	ENST00000263116.2	+	5	480	c.440T>G	c.(439-441)gTt>gGt	p.V147G	RAB36_ENST00000341989.4_Missense_Mutation_p.V125G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	147					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TGCAAGAATGTTTTTGATCGA	0.483																																																0			22											183	175	178					22																	23495234		2203	4300	6503	21825234	SO:0001583	missense	9609			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.440T>G	22.37:g.23495234T>G	ENSP00000263116:p.Val147Gly		21825234	Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	CCDS13805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.57|12.57	1.977888|1.977888	0.34942|0.34942	.|.	.|.	ENSG00000100228|ENSG00000100228	ENST00000420895|ENST00000263116;ENST00000341989	.|T;T	.|0.76448	.|-1.02;-1.02	5.53|5.53	1.8|1.8	0.24995|0.24995	.|Small GTP-binding protein domain (1);	.|0.800800	.|0.10954	.|N	.|0.615726	T|T	0.71978|0.71978	0.3404|0.3404	L|L	0.38692|0.38692	1.165|1.165	0.26121|0.26121	N|N	0.980541|0.980541	.|P;P	.|0.41188	.|0.589;0.741	.|B;P	.|0.45712	.|0.229;0.491	T|T	0.61613|0.61613	-0.7027|-0.7027	5|10	.|0.56958	.|D	.|0.05	-9.1302|-9.1302	7.6194|7.6194	0.28177|0.28177	0.0:0.309:0.0:0.691|0.0:0.309:0.0:0.691	.|.	.|125;147	.|O95755-2;O95755	.|.;RAB36_HUMAN	W|G	41|147;125	.|ENSP00000263116:V147G;ENSP00000343494:V125G	.|ENSP00000263116:V147G	C|V	+|+	3|2	2|0	RAB36|RAB36	21825234|21825234	0.013000|0.013000	0.17824|0.17824	0.177000|0.177000	0.23020|0.23020	0.810000|0.810000	0.45777|0.45777	0.258000|0.258000	0.18387|0.18387	0.475000|0.475000	0.27415|0.27415	-0.290000|-0.290000	0.09829|0.09829	TGT|GTT		0.483	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		G	23495234	T	G	23495234	3	3	329	1	0	0	0	0	1	0	0	0	12929	1725	60	5	458	5	RAB36	22	23495234	Missense_Mutation	SNP	T	TCGA-29-1698-01A-01W-0633-09		23495234	27809332	57	17632											
LOC391322	2952	genome.wustl.edu	37	22	24373826	24373829	+	IGR	DEL	CAAT	CAAT	-			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	CAAT	CAAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chr22:24373826_24373829delCAAT	ENST00000248935.5	-	0	1066				KB-226F1.1_ENST00000608619.1_RNA	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN							glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TTCTAAAACACAATCAGAGTACTC	0.515									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																																							0			22																																								22703829	SO:0001628	intergenic_variant	391322	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																													22.37:g.24373826_24373829delCAAT			22703826	O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Frame_Shift_Del	DEL	ENST00000248935.5	37	CCDS13822.1																																																																																				0.515	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			-	24373829	CAAT	-	24373826	6	5	329	0	1	1	0	1	0	0	0	0	8875	479	17	0		0	LOC391322	22	24373826	IGR	DEL	CAAT	TCGA-29-1698-01A-01W-0633-09	878592	24373826	26930740	58	17633											
IL1RAPL1	11141	genome.wustl.edu	37	X	29938203	29938203	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chrX:29938203A>C	ENST00000378993.1	+	8	1722	c.1049A>C	c.(1048-1050)cAt>cCt	p.H350P	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.H350P	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	350	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GTTCTCCTTCATAAACGAGGT	0.398																																																0			X											111	89	96					X																	29938203		2202	4300	6502	29848124	SO:0001583	missense	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1049A>C	X.37:g.29938203A>C	ENSP00000368278:p.His350Pro		29848124	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505382	0.44558	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.03831	3.79;3.79	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.297672	0.37809	N	0.001924	T	0.04137	0.0115	N	0.14661	0.345	0.30277	N	0.791688	B	0.32939	0.391	B	0.41510	0.359	T	0.33803	-0.9854	9	.	.	.	.	5.9184	0.19067	0.7743:0.0:0.0765:0.1492	.	350	Q9NZN1	IRPL1_HUMAN	P	350	ENSP00000368278:H350P;ENSP00000305200:H350P	.	H	+	2	0	IL1RAPL1	29848124	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.745000	0.47459	2.044000	0.60594	0.425000	0.28330	CAT		0.398	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		C	29938203	A	C	29938203	3	2	329	1	0	0	0	0	1	0	0	0	7661	217	8	5	1075	5	IL1RAPL1	23	29938203	Missense_Mutation	SNP	A	TCGA-29-1698-01A-01W-0633-09		29938203	125332357	59	17634											
DCX	1641	genome.wustl.edu	37	X	110653404	110653404	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1698-01A-01W-0633-09	TCGA-29-1698-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13d549f0-e884-484c-9c42-0e030a751d83	7066096f-fff7-4e26-822c-93b3c5d7e795	g.chrX:110653404C>T	ENST00000338081.3	-	2	637	c.466G>A	c.(466-468)Gac>Aac	p.D156N	DCX_ENST00000371993.2_Missense_Mutation_p.D75N|DCX_ENST00000356915.2_Missense_Mutation_p.D75N|DCX_ENST00000488120.1_Missense_Mutation_p.D75N|DCX_ENST00000356220.3_Missense_Mutation_p.D75N|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	156	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CGAAAACGGTCAGAGGACACA	0.512																																																0			X											283	202	230					X																	110653404		2203	4300	6503	110540060	SO:0001583	missense	1641			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.466G>A	X.37:g.110653404C>T	ENSP00000337697:p.Asp156Asn		110540060	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216713	0.95104	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.5	5.5	0.81552	Doublecortin domain (5);	0.000000	0.85682	D	0.000000	D	0.95146	0.8427	M	0.78801	2.425	0.80722	D	1	B;B	0.27656	0.184;0.09	P;B	0.46543	0.52;0.399	D	0.93471	0.6819	10	0.41790	T	0.15	.	18.4403	0.90664	0.0:1.0:0.0:0.0	.	144;156	B4DM53;O43602	.;DCX_HUMAN	N	75;75;156;75;75;75	ENSP00000349385:D75N;ENSP00000361061:D75N;ENSP00000337697:D156N;ENSP00000348553:D75N;ENSP00000419861:D75N;ENSP00000418811:D75N	ENSP00000337697:D156N	D	-	1	0	DCX	110540060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.551000	0.86045	0.600000	0.82982	GAC		0.512	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		T	110653404	C	T	110653404	3	4	329	1	0	0	0	0	1	0	0	0	4318	826	29	2	898	2	DCX	23	110653404	Missense_Mutation	SNP	C	TCGA-29-1698-01A-01W-0633-09	80715201	110653404	44617156	60	17635											
SLC5A9	200010	genome.wustl.edu	37	1	48713036	48713036	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:48713036T>C	ENST00000438567.2	+	14	1919	c.1867T>C	c.(1867-1869)Tgg>Cgg	p.W623R	SLC5A9_ENST00000236495.5_Missense_Mutation_p.W648R|SLC5A9_ENST00000533824.1_Missense_Mutation_p.W644R|SLC5A9_ENST00000471020.1_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	623					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AAAGTTGCTCTGGAGCTGGTT	0.572																																																0			1											44	43	43					1																	48713036		2203	4300	6503	48485623	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1867T>C	1.37:g.48713036T>C	ENSP00000401730:p.Trp623Arg		48485623	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443470	0.43429	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.87256	-2.17;-2.16;-2.23	5.39	4.24	0.50183	.	0.401784	0.28549	N	0.014960	T	0.81059	0.4744	L	0.42245	1.32	0.80722	D	1	B;B;B	0.31931	0.347;0.0;0.001	B;B;B	0.25759	0.063;0.001;0.001	T	0.77624	-0.2518	10	0.51188	T	0.08	.	11.8111	0.52183	0.0:0.0:0.1469:0.8531	.	644;623;648	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	R	644;623;648	ENSP00000431900:W644R;ENSP00000401730:W623R;ENSP00000236495:W648R	ENSP00000236495:W648R	W	+	1	0	SLC5A9	48485623	1.000000	0.71417	0.881000	0.34555	0.951000	0.60555	3.644000	0.54381	0.855000	0.35359	0.533000	0.62120	TGG		0.572	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		C	48713036	T	C	48713036	3	2	330	1	0	0	0	0	1	0	0	0	14675	1580	55	4	2000	4	SLC5A9	1	48713036	Missense_Mutation	SNP	T	TCGA-29-1699-01A-01W-0633-09		48713036	200537585	1	17636											
DNAJC6	9829	genome.wustl.edu	37	1	65867548	65867548	+	Missense_Mutation	SNP	G	G	A	rs140156759		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:65867548G>A	ENST00000395325.3	+	15	2198	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	DNAJC6_ENST00000371069.4_Missense_Mutation_p.D738N|DNAJC6_ENST00000263441.7_Missense_Mutation_p.D668N	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	681	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCCTTTTGCCGACCTTGGGAC	0.463																																																0			1						G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	89	88	88		2041	5.3	1	1	dbSNP_134	88	0,8600		0,0,4300	no	missense	DNAJC6	NM_014787.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	681/914	65867548	1,13005	2203	4300	6503	65640136	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2041G>A	1.37:g.65867548G>A	ENSP00000378735:p.Asp681Asn		65640136	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032185	0.93575	2.27E-4	0.0	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.96334	-3.84;-3.98;-3.92	5.26	5.26	0.73747	.	0.048075	0.85682	D	0.000000	D	0.97501	0.9182	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96355	0.9261	10	0.36615	T	0.2	.	19.0569	0.93069	0.0:0.0:1.0:0.0	.	738;681	O75061-2;O75061	.;AUXI_HUMAN	N	668;681;738	ENSP00000263441:D668N;ENSP00000378735:D681N;ENSP00000360108:D738N	ENSP00000263441:D668N	D	+	1	0	DNAJC6	65640136	1.000000	0.71417	0.980000	0.43619	0.864000	0.49448	9.222000	0.95196	2.732000	0.93576	0.650000	0.86243	GAC		0.463	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			A	65867548	G	A	65867548	3	1	330	1	0	0	0	0	1	0	0	0	4653	1058	37	1	2099	1	DNAJC6	1	65867548	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	17154512	65867548	183383073	2	17637											
SERBP1	26135	genome.wustl.edu	37	1	67895855	67895855	+	Silent	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:67895855C>T	ENST00000370995.2	-	1	214	c.129G>A	c.(127-129)ggG>ggA	p.G43G	SERBP1_ENST00000370994.4_Silent_p.G43G|SERBP1_ENST00000361219.6_Silent_p.G43G|SERBP1_ENST00000370990.5_Silent_p.G43G			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	43					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CAACGCCGCCCCCGCCGGCTT	0.627																																																0			1											26	34	31					1																	67895855		2103	4241	6344	67668443	SO:0001819	synonymous_variant	26135			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.129G>A	1.37:g.67895855C>T			67668443	Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Silent	SNP	ENST00000370995.2	37	CCDS30746.1																																																																																				0.627	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		T	67895855	C	T	67895855	2	4	330	1	0	0	0	0	0	0	0	1	14078	610	22	2		2	SERBP1	1	67895855	Silent	SNP	C	TCGA-29-1699-01A-01W-0633-09	2028307	67895855	181354766	3	17638											
ACADM	34	genome.wustl.edu	37	1	76216135	76216135	+	Splice_Site	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:76216135G>A	ENST00000370841.4	+	10	1286		c.e10-1		ACADM_ENST00000543667.1_Splice_Site|ACADM_ENST00000420607.2_Splice_Site|ACADM_ENST00000541113.1_Splice_Site|ACADM_ENST00000370834.5_Splice_Site	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain						cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TAAAATACTAGGTAGCTGCTG	0.378																																																0			1											47	51	50					1																	76216135		2203	4300	6503	75988723	SO:0001630	splice_region_variant	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.850-1G>A	1.37:g.76216135G>A			75988723	Q5T4U4|Q9NYF1	Splice_Site	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307621	0.23821	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.031	0.89283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACADM	75988723	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	9.421000	0.97455	2.626000	0.88956	0.591000	0.81541	.		0.378	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		Intron	A	76216135	G	A	76216135	5	1	330	1	0	0	0	0	0	0	1	0	113	1014	35	2	899	2	ACADM	1	76216135	Splice_Site	SNP	G	TCGA-29-1699-01A-01W-0633-09	8320280	76216135	173034486	4	17639											
FNDC7	163479	genome.wustl.edu	37	1	109271309	109271309	+	Silent	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:109271309T>C	ENST00000370017.3	+	8	1702	c.1425T>C	c.(1423-1425)aaT>aaC	p.N475N	FNDC7_ENST00000271311.2_Silent_p.N476N	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	475	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CCATGATTAATGTGCACTGGC	0.433																																																0			1											115	103	107					1																	109271309		2203	4300	6503	109072832	SO:0001819	synonymous_variant	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1425T>C	1.37:g.109271309T>C			109072832	A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	T	0.036	-1.308433	0.01342	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.91	-10.1	0.00402	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60316	-0.7287	4	.	.	.	-0.2626	12.2925	0.54827	0.0:0.3067:0.0806:0.6127	.	.	.	.	R	251	.	.	C	+	1	0	FNDC7	109072832	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.013000	0.00646	-1.966000	0.01009	-1.259000	0.01468	TGT		0.433	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		C	109271309	T	C	109271309	2	2	330	1	0	0	0	0	0	0	0	1	5973	1461	51	4		4	FNDC7	1	109271309	Silent	SNP	T	TCGA-29-1699-01A-01W-0633-09	33055174	109271309	139979312	5	17640											
DAP3	7818	genome.wustl.edu	37	1	155701156	155701156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:155701156G>T	ENST00000368336.5	+	10	977	c.853G>T	c.(853-855)Gag>Tag	p.E285*	DAP3_ENST00000535183.1_Nonsense_Mutation_p.E244*|DAP3_ENST00000471642.2_Nonsense_Mutation_p.E244*|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Nonsense_Mutation_p.E251*|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Nonsense_Mutation_p.E285*	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	285					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GATTGCCCCCGAGGAATTAGC	0.358																																																0			1											139	131	134					1																	155701156		2203	4300	6503	153967780	SO:0001587	stop_gained	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.853G>T	1.37:g.155701156G>T	ENSP00000357320:p.Glu285*		153967780	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Nonsense_Mutation	SNP	ENST00000368336.5	37	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082987	0.76642	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.8461	17.4665	0.87634	0.0:0.0:1.0:0.0	.	.	.	.	X	285;285;251;244	.	ENSP00000341692:E285X	E	+	1	0	DAP3	153967780	1.000000	0.71417	0.972000	0.41901	0.714000	0.41099	7.233000	0.78125	2.644000	0.89710	0.563000	0.77884	GAG		0.358	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		T	155701156	G	T	155701156	4	4	330	1	0	0	0	0	0	1	0	0	4234	1059	37	3	887	3	DAP3	1	155701156	Nonsense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	46429847	155701156	93549465	6	17641											
SYT11	23208	genome.wustl.edu	37	1	155838133	155838133	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:155838133A>T	ENST00000368324.4	+	2	665	c.412A>T	c.(412-414)Agc>Tgc	p.S138C	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	138					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCCTATTACAAGCCTGACCCC	0.502																																																0			1											105	105	105					1																	155838133		2203	4300	6503	154104757	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.412A>T	1.37:g.155838133A>T	ENSP00000357307:p.Ser138Cys		154104757	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903454	0.72754	.	.	ENSG00000132718	ENST00000368324	T	0.50277	0.75	5.35	4.22	0.49857	.	0.157704	0.64402	D	0.000014	T	0.46425	0.1392	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.51702	-0.8672	10	0.66056	D	0.02	.	9.3822	0.38320	0.9188:0.0:0.0812:0.0	.	138	Q9BT88	SYT11_HUMAN	C	138	ENSP00000357307:S138C	ENSP00000357307:S138C	S	+	1	0	SYT11	154104757	1.000000	0.71417	0.786000	0.31890	0.984000	0.73092	6.202000	0.72131	1.054000	0.40438	0.533000	0.62120	AGC		0.502	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		T	155838133	A	T	155838133	3	4	330	1	0	0	0	0	1	0	0	0	15467	72	3	5	418	5	SYT11	1	155838133	Missense_Mutation	SNP	A	TCGA-29-1699-01A-01W-0633-09	136977	155838133	93412488	7	17642											
METTL13	51603	genome.wustl.edu	37	1	171765792	171765792	+	Silent	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:171765792C>T	ENST00000361735.3	+	8	2262	c.1996C>T	c.(1996-1998)Cta>Tta	p.L666L	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Silent_p.L580L|METTL13_ENST00000367737.5_Silent_p.L510L|METTL13_ENST00000458517.1_Silent_p.L665L	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	666							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ACCAGAGCTCCTAGAAACAGC	0.522																																																0			1											100	102	101					1																	171765792		2203	4300	6503	170032415	SO:0001819	synonymous_variant	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1996C>T	1.37:g.171765792C>T			170032415	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	CCDS1299.1																																																																																				0.522	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		T	171765792	C	T	171765792	2	4	330	1	0	0	0	0	0	0	0	1	9497	680	24	2		2	METTL13	1	171765792	Silent	SNP	C	TCGA-29-1699-01A-01W-0633-09	15927659	171765792	77484829	8	17643											
CACNA1S	779	genome.wustl.edu	37	1	201047051	201047051	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:201047051G>A	ENST00000362061.3	-	11	1801	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	CACNA1S_ENST00000367338.3_Silent_p.S525S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	525					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCGGAGCACGGAGATGCCCA	0.627																																																0			1											69	55	59					1																	201047051		2203	4300	6503	199313674	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1575C>T	1.37:g.201047051G>A			199313674	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.627	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201047051	G	A	201047051	2	1	330	1	0	0	0	0	0	0	0	1	2547	1103	39	1		1	CACNA1S	1	201047051	Silent	SNP	G	TCGA-29-1699-01A-01W-0633-09	29281259	201047051	48203570	9	17644											
KCNH1	3756	genome.wustl.edu	37	1	211192544	211192544	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:211192544T>A	ENST00000271751.4	-	6	640	c.613A>T	c.(613-615)Act>Tct	p.T205S	KCNH1_ENST00000367007.4_Missense_Mutation_p.T205S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	205					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGAGGGGGAGTCTTTGGTGCC	0.428																																																0			1											72	75	74					1																	211192544		2203	4300	6503	209259167	SO:0001583	missense	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.613A>T	1.37:g.211192544T>A	ENSP00000271751:p.Thr205Ser		209259167	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065598	0.76187	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98947	-5.18;-5.26	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	M	0.72353	2.195	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.99581	1.0973	10	0.56958	D	0.05	.	13.8759	0.63653	0.0:0.0:0.0:1.0	.	205;205	Q14CL3;O95259	.;KCNH1_HUMAN	S	205	ENSP00000271751:T205S;ENSP00000355974:T205S	ENSP00000271751:T205S	T	-	1	0	KCNH1	209259167	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.689000	0.84165	1.885000	0.54596	0.379000	0.24179	ACT		0.428	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		A	211192544	T	A	211192544	3	1	330	1	0	0	0	0	1	0	0	0	8031	1667	58	5	2380	5	KCNH1	1	211192544	Missense_Mutation	SNP	T	TCGA-29-1699-01A-01W-0633-09	10145493	211192544	38058077	10	17645											
CENPF	1063	genome.wustl.edu	37	1	214815222	214815225	+	Frame_Shift_Del	DEL	AGAG	AGAG	-	rs567266370		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	AGAG	AGAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:214815222_214815225delAGAG	ENST00000366955.3	+	12	3709_3712	c.3541_3544delAGAG	c.(3541-3546)agagagfs	p.RE1181fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1182fs*21(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTGAAAGAAAGAGAGAGTGAGAG	0.333																																					Colon(80;575 1284 11000 14801 43496)											1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	1																																								212881848	SO:0001589	frameshift_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3541_3544delAGAG	1.37:g.214815226_214815229delAGAG	ENSP00000355922:p.Arg1181fs		212881845	Q13171|Q13246|Q5VVM7	Frame_Shift_Del	DEL	ENST00000366955.3	37	CCDS31023.1																																																																																				0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		-	214815225	AGAG	-	214815222	7	5	330	1	0	1	0	1	0	0	0	0	3231	64	3	0	3583	0	CENPF	1	214815222	Frame_Shift_Del	DEL	AGAG	TCGA-29-1699-01A-01W-0633-09	3622678	214815222	34435399	11	17646											
EPHX1	2052	genome.wustl.edu	37	1	226026529	226026529	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr1:226026529T>A	ENST00000366837.4	+	4	735	c.539T>A	c.(538-540)gTc>gAc	p.V180D	EPHX1_ENST00000272167.5_Missense_Mutation_p.V180D|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	180					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTTTTTGAAGTCATCTGCCCT	0.562																																																0			1											125	108	114					1																	226026529		2203	4300	6503	224093152	SO:0001583	missense	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.539T>A	1.37:g.226026529T>A	ENSP00000355802:p.Val180Asp		224093152	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.995066	0.93167	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.08634	3.07;3.07	5.69	5.69	0.88448	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63800	-0.6555	9	.	.	.	-13.1241	15.9404	0.79750	0.0:0.0:0.0:1.0	.	180	P07099	HYEP_HUMAN	D	180	ENSP00000272167:V180D;ENSP00000355802:V180D	.	V	+	2	0	EPHX1	224093152	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.942000	0.87708	2.171000	0.68590	0.459000	0.35465	GTC		0.562	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		A	226026529	T	A	226026529	3	1	330	1	0	0	0	0	1	0	0	0	5179	1667	58	5	549	5	EPHX1	1	226026529	Missense_Mutation	SNP	T	TCGA-29-1699-01A-01W-0633-09	11211307	226026529	23224092	12	17647											
TTN	7273	genome.wustl.edu	37	2	179419687	179419687	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:179419687A>T	ENST00000591111.1	-	281	83800	c.83576T>A	c.(83575-83577)aTc>aAc	p.I27859N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I20627N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I29500N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I20560N|TTN_ENST00000460472.2_Missense_Mutation_p.I20435N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I26932N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27859	Ig-like 130.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCATCTTTGATGAGTATAGA	0.433																																																0			2											88	82	84					2																	179419687		1911	4125	6036	179127933	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83576T>A	2.37:g.179419687A>T	ENSP00000465570:p.Ile27859Asn		179127933	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	19.51	3.841936	0.71488	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91486	0.7312	M	0.92367	3.3	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.64877	0.93;0.93;0.93;0.93	D	0.93466	0.6815	9	0.87932	D	0	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	20435;20560;20627;27859	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	26932;20435;20627;20560;20432	ENSP00000343764:I26932N;ENSP00000434586:I20435N;ENSP00000340554:I20627N;ENSP00000352154:I20560N	ENSP00000340554:I20627N	I	-	2	0	TTN	179127933	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.287000	0.95975	2.279000	0.76181	0.533000	0.62120	ATC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179419687	A	T	179419687	3	4	330	1	0	0	0	0	1	0	0	0	16735	333	12	5	19608	5	TTN	2	179419687	Missense_Mutation	SNP	A	TCGA-29-1699-01A-01W-0633-09		179419687	63779686	13	17648											
COL5A2	1290	genome.wustl.edu	37	2	189932953	189932953	+	Splice_Site	SNP	G	G	A	rs145850743	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:189932953G>A	ENST00000374866.3	-	20	1575	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	434					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGTACTCACCGTTGGGCCTTT	0.408													G|||	2	0.000399361	0	0	5008	,	,		19713	0		0	False		,,,				2504	0.002															0			2						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	156	149	151		1301	4.3	0.9	2	dbSNP_134	151	23,8577	16.6+/-54.9	0,23,4277	yes	missense-near-splice	COL5A2	NM_000393.3	81	0,24,6479	AA,AG,GG		0.2674,0.0227,0.1845	probably-damaging	434/1500	189932953	24,12982	2203	4300	6503	189641198	SO:0001630	splice_region_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1302+1C>T	2.37:g.189932953G>A			189641198	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360796	0.41801	2.27E-4	0.002674	ENSG00000204262	ENST00000374866	D	0.94376	-3.41	5.22	4.35	0.52113	.	0.000000	0.56097	D	0.000035	D	0.86598	0.5971	N	0.17872	0.535	0.40783	D	0.98319	B	0.18013	0.025	B	0.15484	0.013	T	0.81879	-0.0730	9	.	.	.	.	13.8077	0.63243	0.0732:0.0:0.9268:0.0	.	434	P05997	CO5A2_HUMAN	M	434	ENSP00000364000:T434M	.	T	-	2	0	COL5A2	189641198	1.000000	0.71417	0.875000	0.34327	0.514000	0.34195	3.494000	0.53273	1.442000	0.47568	-0.218000	0.12543	ACG		0.408	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Missense_Mutation	A	189932953	G	A	189932953	5	1	330	1	0	0	0	0	0	0	1	0	3697	1159	40	1	3338	1	COL5A2	2	189932953	Splice_Site	SNP	G	TCGA-29-1699-01A-01W-0633-09	10513266	189932953	53266420	14	17649											
CASP8	841	genome.wustl.edu	37	2	202150037	202150037	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:202150037C>T	ENST00000432109.2	+	9	1490	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	CASP8_ENST00000264274.9_Missense_Mutation_p.P350L|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.P451L|CASP8_ENST00000323492.7_Missense_Mutation_p.P419L|CASP8_ENST00000358485.4_Missense_Mutation_p.P493L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	434					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGCGATGTCCTCGGTAAGTT	0.502										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)											0			2											87	78	81					2																	202150037		2203	4300	6503	201858282	SO:0001583	missense	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1301C>T	2.37:g.202150037C>T	ENSP00000412523:p.Pro434Leu		201858282	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591092	0.46214	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.37	4.49	0.54785	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.188460	0.45126	D	0.000393	T	0.37705	0.1013	M	0.82132	2.575	0.80722	D	1	P;P;B;B;P	0.45240	0.854;0.793;0.012;0.313;0.793	B;P;B;B;P	0.50136	0.27;0.632;0.034;0.147;0.632	T	0.25779	-1.0122	10	0.52906	T	0.07	.	13.4503	0.61167	0.0:0.9233:0.0:0.0767	.	350;493;434;419;451	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	L	419;350;434;451;493;419;213	ENSP00000376091:P419L;ENSP00000264274:P350L;ENSP00000412523:P434L;ENSP00000264275:P451L;ENSP00000351273:P493L;ENSP00000325722:P419L;ENSP00000394434:P213L	ENSP00000264274:P350L	P	+	2	0	CASP8	201858282	0.969000	0.33509	1.000000	0.80357	0.810000	0.45777	2.256000	0.43231	2.506000	0.84524	0.561000	0.74099	CCT		0.502	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		T	202150037	C	T	202150037	3	4	330	1	0	0	0	0	1	0	0	0	2677	681	24	2	1608	2	CASP8	2	202150037	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	12217084	202150037	41049336	15	17650											
MAP2	4133	genome.wustl.edu	37	2	210518115	210518115	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:210518115G>A	ENST00000360351.4	+	4	727	c.221G>A	c.(220-222)gGg>gAg	p.G74E	MAP2_ENST00000392194.1_Missense_Mutation_p.G74E|MAP2_ENST00000199940.6_Missense_Mutation_p.G74E|MAP2_ENST00000447185.1_Missense_Mutation_p.G74E|MAP2_ENST00000361559.4_Missense_Mutation_p.G74E	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	74					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAGAGAATGGGATCAACGGA	0.498																																					Pancreas(27;423 979 28787 29963)											0			2											103	103	103					2																	210518115		2203	4300	6503	210226360	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.221G>A	2.37:g.210518115G>A	ENSP00000353508:p.Gly74Glu		210226360	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230194	0.79688	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000030	T	0.34395	0.0896	L	0.27053	0.805	0.52099	D	0.99994	D;D;P;D;D;P	0.89917	0.995;1.0;0.839;1.0;0.995;0.682	P;D;P;D;P;B	0.91635	0.86;0.999;0.457;0.994;0.728;0.186	T	0.02758	-1.1114	10	0.02654	T	1	-15.1589	17.9193	0.88961	0.0:0.0:1.0:0.0	.	74;74;75;74;74;74	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	E	74	ENSP00000199940:G74E;ENSP00000376031:G74E;ENSP00000353508:G74E;ENSP00000355290:G74E;ENSP00000409969:G74E;ENSP00000376032:G74E;ENSP00000392164:G74E	ENSP00000199940:G74E	G	+	2	0	MAP2	210226360	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.744000	0.74854	2.471000	0.83476	0.643000	0.83706	GGG		0.498	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		A	210518115	G	A	210518115	3	1	330	1	0	0	0	0	1	0	0	0	9235	1232	43	2	223	2	MAP2	2	210518115	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	8368078	210518115	32681258	16	17651											
NEU2	4759	genome.wustl.edu	37	2	233899079	233899079	+	Missense_Mutation	SNP	G	G	A	rs113887175	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr2:233899079G>A	ENST00000233840.3	+	2	455	c.455G>A	c.(454-456)cGg>cAg	p.R152Q		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	152					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CCAGCCTACCGGGAGTGGTCC	0.657													G|||	2	0.000399361	0.0015	0	5008	,	,		16736	0		0	False		,,,				2504	0															0			2						G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	42	46	45		455	-4.4	0	2	dbSNP_132	45	0,8600		0,0,4300	yes	missense	NEU2	NM_005383.2	43	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	152/381	233899079	5,13001	2203	4300	6503	233607323	SO:0001583	missense	4759			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.455G>A	2.37:g.233899079G>A	ENSP00000233840:p.Arg152Gln		233607323	Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	G	5.033	0.191749	0.09547	0.001135	0.0	ENSG00000115488	ENST00000233840	D	0.84146	-1.81	4.88	-4.4	0.03600	Neuraminidase (2);	1.026890	0.07775	N	0.952359	T	0.66761	0.2822	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52771	-0.8531	10	0.13470	T	0.59	-8.7639	13.1559	0.59516	0.4442:0.0:0.5558:0.0	.	152	Q9Y3R4	NEUR2_HUMAN	Q	152	ENSP00000233840:R152Q	ENSP00000233840:R152Q	R	+	2	0	NEU2	233607323	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.280000	0.02804	-0.718000	0.04949	-1.384000	0.01168	CGG		0.657	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		A	233899079	G	A	233899079	3	1	330	1	0	0	0	0	1	0	0	0	10342	1116	39	1	461	1	NEU2	2	233899079	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	23380964	233899079	9300294	17	17652											
EPHA3	2042	genome.wustl.edu	37	3	89456453	89456453	+	Silent	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:89456453C>T	ENST00000336596.2	+	8	1854	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	EPHA3_ENST00000494014.1_Silent_p.V543V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	543					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCCAAGTGGTCATGATCGCCA	0.398										TSP Lung(6;0.00050)																																						0			3											174	149	157					3																	89456453		2203	4300	6503	89539143	SO:0001819	synonymous_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1629C>T	3.37:g.89456453C>T			89539143	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																				0.398	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		T	89456453	C	T	89456453	2	4	330	1	0	0	0	0	0	0	0	1	5168	813	29	2		2	EPHA3	3	89456453	Silent	SNP	C	TCGA-29-1699-01A-01W-0633-09		89456453	108565977	18	17653											
FILIP1L	11259	genome.wustl.edu	37	3	99569640	99569640	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:99569640C>G	ENST00000354552.3	-	5	1350	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	FILIP1L_ENST00000471562.1_Missense_Mutation_p.E54Q|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.E294Q|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E54Q|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	294						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTTTGCAGTTCCTTCTCTAGT	0.473																																																0			3											301	292	295					3																	99569640		1984	4157	6141	101052330	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.880G>C	3.37:g.99569640C>G	ENSP00000346560:p.Glu294Gln		101052330	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430328	0.62844	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.31510	2.01;1.5;2.01;1.5;1.49	5.74	5.74	0.90152	.	0.118030	0.37530	N	0.002053	T	0.51295	0.1666	M	0.66939	2.045	0.43569	D	0.995898	D;D	0.69078	0.997;0.994	D;P	0.63957	0.92;0.833	T	0.34329	-0.9833	10	0.12430	T	0.62	-15.9708	19.9145	0.97053	0.0:1.0:0.0:0.0	.	294;294	Q4L180-2;Q4L180	.;FIL1L_HUMAN	Q	294;54;294;54;54;54	ENSP00000346560:E294Q;ENSP00000419642:E54Q;ENSP00000327880:E294Q;ENSP00000373192:E54Q;ENSP00000419874:E54Q	ENSP00000327880:E294Q	E	-	1	0	FILIP1L	101052330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.642000	0.67888	2.709000	0.92574	0.655000	0.94253	GAA		0.473	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		G	99569640	C	G	99569640	3	3	330	1	0	0	0	0	1	0	0	0	5895	864	30	3	2556	3	FILIP1L	3	99569640	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	10113187	99569640	98452790	19	17654											
PLCXD2	257068	genome.wustl.edu	37	3	111426830	111426830	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:111426830A>G	ENST00000477665.1	+	2	545	c.221A>G	c.(220-222)cAa>cGa	p.Q74R	PLCXD2_ENST00000393934.3_Missense_Mutation_p.Q74R	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	74	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GGGCCTGACCAAACCCAAGCT	0.498																																																0			3											51	54	53					3																	111426830		2203	4300	6503	112909520	SO:0001583	missense	257068			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.221A>G	3.37:g.111426830A>G	ENSP00000420686:p.Gln74Arg		112909520	Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418626	0.83559	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.77	5.77	0.91146	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	.	.	.	.	T	0.75642	0.3877	M	0.65975	2.015	0.53688	D	0.999975	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.986	T	0.72836	-0.4172	8	0.26408	T	0.33	-11.5573	14.3292	0.66541	1.0:0.0:0.0:0.0	.	74;74	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	R	74	.	ENSP00000377511:Q74R	Q	+	2	0	PLCXD2	112909520	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	CAA		0.498	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		G	111426830	A	G	111426830	3	3	330	1	0	0	0	0	1	0	0	0	12042	130	5	4	227	4	PLCXD2	3	111426830	Missense_Mutation	SNP	A	TCGA-29-1699-01A-01W-0633-09	11857190	111426830	86595600	20	17655											
PHLDB2	90102	genome.wustl.edu	37	3	111603300	111603300	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:111603300G>C	ENST00000431670.2	+	2	787	c.376G>C	c.(376-378)Gca>Cca	p.A126P	PHLDB2_ENST00000481953.1_Missense_Mutation_p.A126P|PHLDB2_ENST00000478922.1_Missense_Mutation_p.A126P|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A153P|PHLDB2_ENST00000393925.3_Missense_Mutation_p.A126P|PHLDB2_ENST00000412622.1_Missense_Mutation_p.A126P|PHLDB2_ENST00000477695.1_Missense_Mutation_p.A126P	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	126						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACTTGGAAGAGCAGACTTTGA	0.443																																																0			3											186	201	196					3																	111603300		2203	4300	6503	113085990	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.376G>C	3.37:g.111603300G>C	ENSP00000405405:p.Ala126Pro		113085990	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722545	0.48728	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34275	1.37;1.39;1.37;1.38;1.39;1.37	5.76	0.926	0.19430	.	0.421096	0.26265	N	0.025370	T	0.27278	0.0669	N	0.19112	0.55	0.24354	N	0.994901	B;B;D;B;B	0.53151	0.167;0.007;0.958;0.256;0.437	B;B;P;B;B	0.51229	0.092;0.006;0.663;0.189;0.189	T	0.10965	-1.0607	10	0.52906	T	0.07	.	5.4687	0.16658	0.3697:0.1314:0.4989:0.0	.	126;126;126;126;153	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	P	153;153;126;126;126;126;126;126;126	ENSP00000377500:A153P;ENSP00000405405:A126P;ENSP00000405292:A126P;ENSP00000418296:A126P;ENSP00000377502:A126P;ENSP00000418319:A126P	ENSP00000352764:A153P	A	+	1	0	PHLDB2	113085990	0.636000	0.27207	0.364000	0.25888	0.733000	0.41908	0.668000	0.25127	-0.041000	0.13558	0.655000	0.94253	GCA		0.443	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		C	111603300	G	C	111603300	3	2	330	1	0	0	0	0	1	0	0	0	11852	971	34	3	463	3	PHLDB2	3	111603300	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	176470	111603300	86419130	21	17656											
COL6A5	256076	genome.wustl.edu	37	3	130162400	130162400	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr3:130162400G>A	ENST00000432398.2	+	36	7062	c.6568G>A	c.(6568-6570)Gat>Aat	p.D2190N	COL6A5_ENST00000265379.6_Missense_Mutation_p.D2190N	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2190	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TATTCAAAATGATGGTTTCCA	0.383																																																0			3											66	63	64					3																	130162400		1852	4100	5952	131645090	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6568G>A	3.37:g.130162400G>A	ENSP00000390895:p.Asp2190Asn		131645090	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	8.441	0.850832	0.17034	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;T;T	0.88664	-2.33;-2.41;-0.83;-0.67	4.35	-8.69	0.00855	.	1.469850	0.04571	N	0.393346	T	0.75810	0.3900	L	0.33485	1.01	0.09310	N	1	B;B	0.25169	0.033;0.119	B;B	0.21917	0.01;0.037	T	0.63523	-0.6618	10	0.17369	T	0.5	.	1.8715	0.03209	0.3126:0.2276:0.3461:0.1137	.	2190;2190	A8TX70;A8TX70-2	CO6A5_HUMAN;.	N	2190;2190;133;25	ENSP00000390895:D2190N;ENSP00000265379:D2190N;ENSP00000362250:D133N;ENSP00000424968:D25N	ENSP00000265379:D2190N	D	+	1	0	COL6A5	131645090	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.181000	0.03085	-1.805000	0.01239	0.544000	0.68410	GAT		0.383	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		A	130162400	G	A	130162400	3	1	330	1	0	0	0	0	1	0	0	0	3702	1290	45	2	6706	2	COL6A5	3	130162400	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	18559100	130162400	67860030	22	17657											
UGT2B28	54490	genome.wustl.edu	37	4	70160459	70160459	+	Missense_Mutation	SNP	G	G	A	rs150330705	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:70160459G>A	ENST00000335568.5	+	6	1524	c.1522G>A	c.(1522-1524)Gtc>Atc	p.V508I	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	508					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GATATTTGTCGTCACAAAGTT	0.443													N|||	9	0.00179712	0	0.0043	5008	,	,		12786	0		0.006	False		,,,				2504	0															0			4						A	,ILE/VAL	4,4056		0,4,2026	149	155	153		,1522	-0.7	0	4	dbSNP_134	153	51,8411		3,45,4183	no	utr-3,missense	UGT2B28	NM_001207004.1,NM_053039.1	,29	3,49,6209	AA,AG,GG		0.6027,0.0985,0.4392	,benign	,508/530	70160459	55,12467	2030	4231	6261	70195048	SO:0001583	missense	54490			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1522G>A	4.37:g.70160459G>A	ENSP00000334276:p.Val508Ile		70195048	B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.017	-1.491710	0.01009	9.85E-4	0.006027	ENSG00000135226	ENST00000335568	T	0.59083	0.29	1.85	-0.744	0.11101	.	0.817300	0.10201	N	0.703346	T	0.22551	0.0544	N	0.10874	0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18745	-1.0327	10	0.08381	T	0.77	.	6.6658	0.23039	0.5249:0.0:0.4751:0.0	.	508	Q9BY64	UDB28_HUMAN	I	508	ENSP00000334276:V508I	ENSP00000334276:V508I	V	+	1	0	UGT2B28	70195048	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.104000	0.03326	-0.454000	0.07066	-1.451000	0.01035	GTC		0.443	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		A	70160459	G	A	70160459	3	1	330	1	0	0	0	0	1	0	0	0	16960	1145	40	1	1544	1	UGT2B28	4	70160459	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09		70160459	120993817	23	17658											
CSN2	1447	genome.wustl.edu	37	4	70823039	70823039	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:70823039T>C	ENST00000353151.3	-	5	639	c.628A>G	c.(628-630)Atc>Gtc	p.I210V		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ACAGGGTAGATCTGGTGGGTG	0.502																																																0			4											82	78	79					4																	70823039		2203	4300	6503	70857628	SO:0001583	missense	1447			X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.628A>G	4.37:g.70823039T>C	ENSP00000341030:p.Ile210Val		70857628	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440617	0.25900	.	.	ENSG00000135222	ENST00000353151	.	.	.	3.9	-7.75	0.01236	.	2.614480	0.01156	N	0.006526	T	0.13500	0.0327	N	0.11427	0.14	0.09310	N	1	B	0.23990	0.095	B	0.19666	0.026	T	0.16394	-1.0404	9	0.10111	T	0.7	-27.7617	1.7403	0.02951	0.2058:0.1309:0.3873:0.276	.	210	P05814	CASB_HUMAN	V	210	.	ENSP00000341030:I210V	I	-	1	0	CSN2	70857628	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-2.362000	0.01082	-1.478000	0.01869	-1.304000	0.01323	ATC		0.502	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			C	70823039	T	C	70823039	3	2	330	1	0	0	0	0	1	0	0	0	3948	1435	50	4	60	4	CSN2	4	70823039	Missense_Mutation	SNP	T	TCGA-29-1699-01A-01W-0633-09	662580	70823039	120331237	24	17659											
ADAMTS3	9508	genome.wustl.edu	37	4	73154574	73154574	+	Silent	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:73154574G>C	ENST00000286657.4	-	21	2979	c.2943C>G	c.(2941-2943)acC>acG	p.T981T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	981	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCACCGCAGGTCACTGAAC	0.537																																					NSCLC(168;1941 2048 2918 13048 43078)											0			4											73	61	65					4																	73154574		2203	4300	6503	73373438	SO:0001819	synonymous_variant	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2943C>G	4.37:g.73154574G>C			73373438	A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	CCDS3553.1																																																																																				0.537	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			C	73154574	G	C	73154574	2	2	330	1	0	0	0	0	0	0	0	1	267	987	35	3		3	ADAMTS3	4	73154574	Silent	SNP	G	TCGA-29-1699-01A-01W-0633-09	2331535	73154574	117999702	25	17660											
CAMK2D	817	genome.wustl.edu	37	4	114378595	114378595	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:114378595C>T	ENST00000342666.5	-	17	1328	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	CAMK2D_ENST00000508738.1_Missense_Mutation_p.M454I|CAMK2D_ENST00000394524.3_Missense_Mutation_p.M443I|CAMK2D_ENST00000511664.1_Missense_Mutation_p.M477I|CAMK2D_ENST00000429180.1_Missense_Mutation_p.M463I|CAMK2D_ENST00000505990.1_Missense_Mutation_p.M477I|CAMK2D_ENST00000394526.2_Missense_Mutation_p.M454I|CAMK2D_ENST00000379773.2_Missense_Mutation_p.M443I|CAMK2D_ENST00000296402.5_Missense_Mutation_p.M443I|CAMK2D_ENST00000454265.2_Missense_Mutation_p.M468I|CAMK2D_ENST00000515496.1_Missense_Mutation_p.M454I|CAMK2D_ENST00000514328.1_Missense_Mutation_p.M442I|CAMK2D_ENST00000394522.3_Missense_Mutation_p.M457I|CAMK2D_ENST00000418639.2_Missense_Mutation_p.M457I			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	443					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTGTCTTTGGCATTCCACTGC	0.493																																																0			4											183	170	175					4																	114378595		2203	4300	6503	114598044	SO:0001583	missense	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1329G>A	4.37:g.114378595C>T	ENSP00000339740:p.Met443Ile		114598044	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	CCDS3703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.06|18.06	3.539182|3.539182	0.65085|0.65085	.|.	.|.	ENSG00000145349|ENSG00000145349	ENST00000513132|ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.40476	.|1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34308|0.34308	0.0893|0.0893	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.06405	.|0.002;0.002;0.001;0.001;0.002	T|T	0.04678|0.04678	-1.0934|-1.0934	5|10	.|0.31617	.|T	.|0.26	.|.	20.3396|20.3396	0.98756|0.98756	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|477;454;457;443;443	.|E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.|.;.;.;.;KCC2D_HUMAN	T|I	147|443;468;463;457;454;443;477;443;454;442;457;477;443;454	.|ENSP00000378032:M443I;ENSP00000415248:M468I;ENSP00000415707:M463I;ENSP00000406131:M457I;ENSP00000378034:M454I;ENSP00000296402:M443I;ENSP00000425824:M477I;ENSP00000339740:M443I;ENSP00000423482:M454I;ENSP00000423677:M442I;ENSP00000378030:M457I;ENSP00000424245:M477I;ENSP00000369098:M443I;ENSP00000422566:M454I	.|ENSP00000296402:M443I	A|M	-|-	1|3	0|0	CAMK2D|CAMK2D	114598044|114598044	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.947000|0.947000	0.59692|0.59692	7.437000|7.437000	0.80417|0.80417	2.812000|2.812000	0.96745|0.96745	0.555000|0.555000	0.69702|0.69702	GCC|ATG		0.493	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			T	114378595	C	T	114378595	3	4	330	1	0	0	0	0	1	0	0	0	2601	710	25	2	190	2	CAMK2D	4	114378595	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	41224021	114378595	76775681	26	17661											
QRFPR	84109	genome.wustl.edu	37	4	122250856	122250856	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:122250856C>A	ENST00000394427.2	-	6	1320	c.909G>T	c.(907-909)aaG>aaT	p.K303N	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	303					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CATCATATTCCTTTTCAAAAT	0.289																																																0			4											23	24	24					4																	122250856		2197	4294	6491	122470306	SO:0001583	missense	84109			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.909G>T	4.37:g.122250856C>A	ENSP00000377948:p.Lys303Asn		122470306		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	9.006	0.981403	0.18812	.	.	ENSG00000186867	ENST00000394427	T	0.73047	-0.71	5.47	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.403092	0.29410	N	0.012221	T	0.44705	0.1306	N	0.12611	0.24	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.21586	-1.0241	10	0.12766	T	0.61	.	4.9202	0.13865	0.1363:0.5279:0.2566:0.0791	.	303	Q96P65	QRFPR_HUMAN	N	303	ENSP00000377948:K303N	ENSP00000377948:K303N	K	-	3	2	QRFPR	122470306	0.096000	0.21769	0.997000	0.53966	0.930000	0.56654	-0.152000	0.10159	1.280000	0.44463	0.491000	0.48974	AAG		0.289	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		A	122250856	C	A	122250856	3	1	330	1	0	0	0	0	1	0	0	0	12881	680	24	3	390	3	QRFPR	4	122250856	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	7872261	122250856	68903420	27	17662											
SORBS2	8470	genome.wustl.edu	37	4	186544080	186544080	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr4:186544080C>T	ENST00000284776.7	-	13	3000	c.2491G>A	c.(2491-2493)Ggt>Agt	p.G831S	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.G931S|SORBS2_ENST00000431808.1_Missense_Mutation_p.G831S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.G735S|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	831					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.G831S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGGAGTGCACCGCCACGGTCT	0.537																																					Esophageal Squamous(153;41 2433 9491 36028)											1	Substitution - Missense(1)	large_intestine(1)	4											62	66	65					4																	186544080		2203	4300	6503	186781074	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2491G>A	4.37:g.186544080C>T	ENSP00000284776:p.Gly831Ser		186781074	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.918154	0.00503	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.34072	1.48;1.48;1.38;1.48	5.92	-4.77	0.03219	.	1.152020	0.05933	N	0.635499	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.04013	0.0;0.0;0.001	T	0.31475	-0.9942	10	0.11485	T	0.65	-0.9885	8.4459	0.32841	0.0871:0.2149:0.0:0.698	.	735;931;831	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	831;831;735;931	ENSP00000284776:G831S;ENSP00000411764:G831S;ENSP00000397482:G735S;ENSP00000347852:G931S	ENSP00000284776:G831S	G	-	1	0	SORBS2	186781074	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.338000	0.19858	-0.783000	0.04534	-0.224000	0.12420	GGT		0.537	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		T	186544080	C	T	186544080	3	4	330	1	0	0	0	0	1	0	0	0	14931	652	23	1	847	1	SORBS2	4	186544080	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	64293224	186544080	4610196	28	17663											
SLC12A7	10723	genome.wustl.edu	37	5	1089099	1089099	+	Missense_Mutation	SNP	A	A	G	rs148794067	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr5:1089099A>G	ENST00000264930.5	-	4	530	c.487T>C	c.(487-489)Tgt>Cgt	p.C163R		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	163					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGACTCACACATGTGCAGCAC	0.652																																																0			5						A	ARG/CYS	0,4406		0,0,2203	154	132	140		487	3.6	1	5	dbSNP_134	140	6,8594	5.0+/-18.6	0,6,4294	yes	missense	SLC12A7	NM_006598.2	180	0,6,6497	GG,GA,AA		0.0698,0.0,0.0461	probably-damaging	163/1084	1089099	6,13000	2203	4300	6503	1142099	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.487T>C	5.37:g.1089099A>G	ENSP00000264930:p.Cys163Arg		1142099	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658240	0.47467	0.0	6.98E-4	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.98747	-5.11	3.59	3.59	0.41128	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	M	0.91249	3.19	0.80722	D	1	P	0.51240	0.943	P	0.57846	0.828	D	0.99414	1.0931	10	0.87932	D	0	.	11.2973	0.49286	1.0:0.0:0.0:0.0	.	163	Q9Y666	S12A7_HUMAN	R	163	ENSP00000264930:C163R	ENSP00000264930:C163R	C	-	1	0	SLC12A7	1142099	1.000000	0.71417	0.987000	0.45799	0.716000	0.41182	4.085000	0.57657	1.413000	0.46997	0.448000	0.29417	TGT		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		G	1089099	A	G	1089099	3	3	330	1	0	0	0	0	1	0	0	0	14391	217	8	4	2848	4	SLC12A7	5	1089099	Missense_Mutation	SNP	A	TCGA-29-1699-01A-01W-0633-09		1089099	179826161	29	17664											
ITGA1	3672	genome.wustl.edu	37	5	52201731	52201731	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr5:52201731G>C	ENST00000282588.6	+	12	1906	c.1448G>C	c.(1447-1449)gGa>gCa	p.G483A		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	483					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACGCTCAGTGGAGAACAGGTA	0.348																																																0			5											86	86	86					5																	52201731		2203	4300	6503	52237488	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1448G>C	5.37:g.52201731G>C	ENSP00000282588:p.Gly483Ala		52237488	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055462	0.93793	.	.	ENSG00000213949	ENST00000282588	T	0.44083	0.93	5.77	5.77	0.91146	.	0.114300	0.64402	D	0.000016	T	0.77170	0.4091	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.83718	0.0191	10	0.87932	D	0	.	19.9575	0.97228	0.0:0.0:1.0:0.0	.	483	P56199	ITA1_HUMAN	A	483	ENSP00000282588:G483A	ENSP00000282588:G483A	G	+	2	0	ITGA1	52237488	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.057000	0.93889	2.890000	0.99128	0.650000	0.86243	GGA		0.348	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		C	52201731	G	C	52201731	3	2	330	1	0	0	0	0	1	0	0	0	7872	1174	41	3	1494	3	ITGA1	5	52201731	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	51112632	52201731	128713529	30	17665											
ODZ2	57451	genome.wustl.edu	37	5	167689607	167689607	+	Missense_Mutation	SNP	C	C	T	rs200019261		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr5:167689607C>T	ENST00000518659.1	+	29	8156	c.8117C>T	c.(8116-8118)aCg>aTg	p.T2706M	TENM2_ENST00000545108.1_Missense_Mutation_p.T2705M|TENM2_ENST00000519204.1_Missense_Mutation_p.T2585M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2467M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2530M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2706					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GCCCTGGGCACGGCCTGGGCC	0.687																																																0			5						C	MET/THR	1,3977		0,1,1988	11	12	12		8090	4.4	1	5		12	5,8277		0,5,4136	yes	missense	ODZ2	NM_001122679.1	81	0,6,6124	TT,TC,CC		0.0604,0.0251,0.0489	benign	2697/2766	167689607	6,12254	1989	4141	6130	167622185	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.8117C>T	5.37:g.167689607C>T	ENSP00000429430:p.Thr2706Met		167622185	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	9.066	0.995675	0.19043	2.51E-4	6.04E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89343	-2.03;-2.02;-2.13;-2.49;-2.5	5.25	4.37	0.52481	.	0.396138	0.28635	N	0.014653	T	0.80019	0.4547	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31009	0.303;0.201;0.096	B;B;B	0.26517	0.07;0.032;0.034	T	0.72656	-0.4227	10	0.49607	T	0.09	.	11.0332	0.47785	0.0:0.8566:0.0:0.1434	.	2705;2706;2467	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	2706;2705;2585;2467;2530	ENSP00000429430:T2706M;ENSP00000438635:T2705M;ENSP00000428964:T2585M;ENSP00000427874:T2467M;ENSP00000384905:T2530M	ENSP00000384905:T2530M	T	+	2	0	ODZ2	167622185	0.517000	0.26226	0.988000	0.46212	0.995000	0.86356	2.610000	0.46325	2.620000	0.88729	0.561000	0.74099	ACG		0.687	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167689607	C	T	167689607	3	4	330	1	0	0	0	0	1	0	0	0	10835	536	19	1	8204	1	ODZ2	5	167689607	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	115487876	167689607	13225653	31	17666											
CAP2	10486	genome.wustl.edu	37	6	17426858	17426858	+	Missense_Mutation	SNP	G	G	A	rs200233388		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:17426858G>A	ENST00000229922.2	+	3	691	c.159G>A	c.(157-159)atG>atA	p.M53I	CAP2_ENST00000493172.1_Missense_Mutation_p.M53I|CAP2_ENST00000465994.1_Missense_Mutation_p.M53I|CAP2_ENST00000378990.2_Missense_Mutation_p.M53I|CAP2_ENST00000489374.1_Missense_Mutation_p.M53I	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	53					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAAGCTGATGGACAGTATGG	0.517													G|||	1	0.000199681	0	0	5008	,	,		18547	0.001		0	False		,,,				2504	0															0			6											119	107	111					6																	17426858		2203	4300	6503	17534837	SO:0001583	missense	10486			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.159G>A	6.37:g.17426858G>A	ENSP00000229922:p.Met53Ile		17534837	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	CCDS4539.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.66	2.302865	0.40795	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.25414	1.8;1.8;1.8;2.9;1.8	5.57	4.7	0.59300	Adenylate cyclase-associated CAP, N-terminal (2);	0.221383	0.49305	N	0.000155	T	0.03564	0.0102	N	0.02775	-0.495	0.24112	N	0.995838	B;B;B;B;B	0.21225	0.0;0.053;0.0;0.0;0.0	B;B;B;B;B	0.27076	0.002;0.076;0.002;0.002;0.007	T	0.42032	-0.9475	10	0.13853	T	0.58	-14.4187	11.3449	0.49554	0.0851:0.0:0.9149:0.0	.	53;53;53;53;53	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	I	53	ENSP00000229922:M53I;ENSP00000417705:M53I;ENSP00000368275:M53I;ENSP00000417208:M53I;ENSP00000418604:M53I	ENSP00000229922:M53I	M	+	3	0	CAP2	17534837	1.000000	0.71417	0.982000	0.44146	0.967000	0.64934	2.337000	0.43947	1.355000	0.45865	0.591000	0.81541	ATG		0.517	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			A	17426858	G	A	17426858	3	1	330	1	0	0	0	0	1	0	0	0	2620	1348	47	2	165	2	CAP2	6	17426858	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09		17426858	153688209	32	17667											
SYNCRIP	10492	genome.wustl.edu	37	6	86324617	86324617	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:86324617G>A	ENST00000369622.3	-	11	2229	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	SYNCRIP_ENST00000355238.6_Intron|RP11-321N4.5_ENST00000503906.1_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	577					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTCTGGCGCCGCTTGGAATCT	0.542																																																0			6											131	131	131					6																	86324617		2203	4300	6503	86381336	SO:0001583	missense	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1729C>T	6.37:g.86324617G>A	ENSP00000358635:p.Arg577Trp		86381336	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847147	0.51164	.	.	ENSG00000135316	ENST00000369622	T	0.36340	1.26	5.19	5.19	0.71726	.	0.057387	0.64402	D	0.000001	T	0.51210	0.1661	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.973;0.988	T	0.55198	-0.8178	10	0.87932	D	0	.	18.7087	0.91648	0.0:0.0:1.0:0.0	.	577;542	O60506;O60506-2	HNRPQ_HUMAN;.	W	577	ENSP00000358635:R577W	ENSP00000358635:R577W	R	-	1	2	SYNCRIP	86381336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.867000	0.99620	2.419000	0.82065	0.563000	0.77884	CGG		0.542	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		A	86324617	G	A	86324617	3	1	330	1	0	0	0	0	1	0	0	0	15444	1086	38	1	192	1	SYNCRIP	6	86324617	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	68897759	86324617	84790450	33	17668											
FBXL4	26235	genome.wustl.edu	37	6	99322166	99322166	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:99322166G>A	ENST00000369244.2	-	10	2282	c.1854C>T	c.(1852-1854)agC>agT	p.S618S	FBXL4_ENST00000229971.1_Silent_p.S618S	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	618					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ACTGAGTAAAGCTCTTTTTTA	0.323																																																0			6											78	81	80					6																	99322166		2203	4300	6503	99428887	SO:0001819	synonymous_variant	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1854C>T	6.37:g.99322166G>A			99428887	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	ENST00000369244.2	37	CCDS5041.1																																																																																				0.323	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			A	99322166	G	A	99322166	2	1	330	1	0	0	0	0	0	0	0	1	5721	962	34	2		2	FBXL4	6	99322166	Silent	SNP	G	TCGA-29-1699-01A-01W-0633-09	12997549	99322166	71792901	34	17669											
LATS1	9113	genome.wustl.edu	37	6	149997787	149997787	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:149997787A>T	ENST00000543571.1	-	6	3227	c.2680T>A	c.(2680-2682)Tta>Ata	p.L894I	LATS1_ENST00000253339.5_Missense_Mutation_p.L894I|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTCCGCTCTAATGGCTTCAGT	0.498																																																0			6											73	67	69					6																	149997787		2203	4300	6503	150039480	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2680T>A	6.37:g.149997787A>T	ENSP00000437550:p.Leu894Ile		150039480		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171749	0.78452	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.56941	0.43;0.43	5.81	3.08	0.35506	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000372	T	0.34861	0.0912	L	0.46741	1.465	0.80722	D	1	P	0.47253	0.892	P	0.47251	0.542	T	0.08207	-1.0733	9	.	.	.	.	10.6936	0.45886	0.2092:0.0:0.7908:0.0	.	894	O95835	LATS1_HUMAN	I	894	ENSP00000437550:L894I;ENSP00000253339:L894I	.	L	-	1	2	LATS1	150039480	1.000000	0.71417	0.683000	0.30040	0.957000	0.61999	3.317000	0.51968	0.374000	0.24650	-0.242000	0.12053	TTA		0.498	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		T	149997787	A	T	149997787	3	4	330	1	0	0	0	0	1	0	0	0	8646	98	4	5	724	5	LATS1	6	149997787	Missense_Mutation	SNP	A	TCGA-29-1699-01A-01W-0633-09	50675621	149997787	21117280	35	17670											
LPA	4018	genome.wustl.edu	37	6	161032737	161032737	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr6:161032737C>A	ENST00000316300.5	-	16	2504	c.2460G>T	c.(2458-2460)agG>agT	p.R820S	LPA_ENST00000447678.1_Missense_Mutation_p.R820S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3328	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCACCCCAGGCCTCTGCTCAG	0.458																																																0			6											62	67	65					6																	161032737		1074	2340	3414	160952727	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2460G>T	6.37:g.161032737C>A	ENSP00000321334:p.Arg820Ser		160952727	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.599106	0.00857	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61510	0.1;0.1	2.17	-4.34	0.03666	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.14184	0.0343	N	0.01576	-0.805	0.09310	N	1	D	0.58268	0.982	D	0.64687	0.928	T	0.10706	-1.0618	9	0.09843	T	0.71	.	0.4915	0.00565	0.2059:0.2161:0.3507:0.2272	.	3328	P08519	APOA_HUMAN	S	820	ENSP00000321334:R820S;ENSP00000395608:R820S	ENSP00000321334:R820S	R	-	3	2	LPA	160952727	0.014000	0.17966	0.352000	0.25734	0.032000	0.12392	-1.432000	0.02430	-1.163000	0.02793	0.194000	0.17425	AGG		0.458	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		A	161032737	C	A	161032737	3	1	330	1	0	0	0	0	1	0	0	0	8903	738	26	3	3758	3	LPA	6	161032737	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	11034950	161032737	10082330	36	17671											
MUC17	140453	genome.wustl.edu	37	7	100678300	100678300	+	Silent	SNP	T	T	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr7:100678300T>A	ENST00000306151.4	+	3	3667	c.3603T>A	c.(3601-3603)ccT>ccA	p.P1201P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1201	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCACCTCCTCCAACTGCTG	0.522																																																0			7											300	269	279					7																	100678300		2203	4300	6503	100465020	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3603T>A	7.37:g.100678300T>A			100465020	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100678300	T	A	100678300	2	1	330	1	0	0	0	0	0	0	0	1	9974	1538	54	5		5	MUC17	7	100678300	Silent	SNP	T	TCGA-29-1699-01A-01W-0633-09		100678300	58460363	37	17672											
COL14A1	7373	genome.wustl.edu	37	8	121298171	121298171	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr8:121298171C>A	ENST00000297848.3	+	33	4309	c.4039C>A	c.(4039-4041)Cct>Act	p.P1347T	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1347T|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1252T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTCGAAGGACCTGAAATTAG	0.294																																																0			8											56	59	58					8																	121298171		2202	4297	6499	121367352	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4039C>A	8.37:g.121298171C>A	ENSP00000297848:p.Pro1347Thr		121367352		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.991087	0.35131	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.13089	2.62;2.62;2.62	4.86	4.86	0.63082	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.157533	0.64402	D	0.000020	T	0.35364	0.0929	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02444	-1.1158	10	0.30854	T	0.27	.	18.3432	0.90313	0.0:1.0:0.0:0.0	.	1347	Q05707	COEA1_HUMAN	T	1347;1347;1252	ENSP00000311809:P1347T;ENSP00000297848:P1347T;ENSP00000247781:P1252T	ENSP00000247781:P1252T	P	+	1	0	COL14A1	121367352	0.987000	0.35691	1.000000	0.80357	0.924000	0.55760	3.778000	0.55371	2.418000	0.82041	0.455000	0.32223	CCT		0.294	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121298171	C	A	121298171	3	1	330	1	0	0	0	0	1	0	0	0	3671	507	18	3	4165	3	COL14A1	8	121298171	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09		121298171	25065851	38	17673											
DOLK	22845	genome.wustl.edu	37	9	131709243	131709243	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr9:131709243C>T	ENST00000372586.3	-	1	655	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	114					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GTGGCTGCCACCACAATGCCA	0.577																																																0			9											47	47	47					9																	131709243		2203	4300	6503	130749064	SO:0001583	missense	22845			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.340G>A	9.37:g.131709243C>T	ENSP00000361667:p.Val114Met		130749064	Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743700	0.69418	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.85411	-1.98	5.64	5.64	0.86602	.	0.089505	0.43579	D	0.000550	D	0.86698	0.5995	L	0.58101	1.795	0.42855	D	0.994099	P	0.52061	0.95	P	0.51355	0.667	D	0.87781	0.2612	10	0.72032	D	0.01	-4.3732	12.0682	0.53601	0.0:0.9221:0.0:0.0779	.	114	Q9UPQ8	DOLK_HUMAN	M	114	ENSP00000361667:V114M	ENSP00000361667:V114M	V	-	1	0	DOLK	130749064	0.959000	0.32827	1.000000	0.80357	0.989000	0.77384	2.074000	0.41529	2.655000	0.90218	0.462000	0.41574	GTG		0.577	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		T	131709243	C	T	131709243	3	4	330	1	0	0	0	0	1	0	0	0	4703	507	18	2	1280	2	DOLK	9	131709243	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09		131709243	9504188	39	17674											
WDR37	22884	genome.wustl.edu	37	10	1170849	1170849	+	Splice_Site	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr10:1170849G>A	ENST00000358220.1	+	13	1382		c.e13-1		WDR37_ENST00000263150.4_Splice_Site|WDR37_ENST00000482165.1_Splice_Site			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37											breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTTCTTTGCAGGATCAATGTA	0.453																																																0			10											110	90	96					10																	1170849		2203	4300	6503	1160849	SO:0001630	splice_region_variant	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1239-1G>A	10.37:g.1170849G>A			1160849	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Splice_Site	SNP	ENST00000358220.1	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387474	0.82902	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1955	0.93686	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR37	1160849	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.424000	0.97464	2.526000	0.85167	0.591000	0.81541	.		0.453	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023	Intron	A	1170849	G	A	1170849	5	1	330	1	0	0	0	0	0	0	1	0	17291	1014	35	2	1284	2	WDR37	10	1170849	Splice_Site	SNP	G	TCGA-29-1699-01A-01W-0633-09		1170849	134363898	40	17675											
MASTL	84930	genome.wustl.edu	37	10	27459095	27459095	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr10:27459095G>C	ENST00000375940.4	+	8	1264	c.1207G>C	c.(1207-1209)Gaa>Caa	p.E403Q	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.E403Q|MASTL_ENST00000342386.6_Missense_Mutation_p.E403Q			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAGCAGTAGAACTGGATGT	0.433																																																0			10											85	88	87					10																	27459095		2203	4300	6503	27499101	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1207G>C	10.37:g.27459095G>C	ENSP00000365107:p.Glu403Gln		27499101	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790842	0.31685	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.78246	-1.16;-1.16;-1.16	5.92	4.09	0.47781	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.413896	0.27881	N	0.017466	T	0.72630	0.3484	L	0.60455	1.87	0.22081	N	0.999376	P;P;P	0.46512	0.879;0.808;0.813	B;B;B	0.43103	0.408;0.231;0.312	T	0.64976	-0.6280	10	0.46703	T	0.11	-11.024	7.4995	0.27509	0.2974:0.0:0.7026:0.0	.	403;403;403	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	Q	403	ENSP00000365113:E403Q;ENSP00000343446:E403Q;ENSP00000365107:E403Q	ENSP00000343446:E403Q	E	+	1	0	MASTL	27499101	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	2.114000	0.41911	0.844000	0.35094	0.650000	0.86243	GAA		0.433	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		C	27459095	G	C	27459095	3	2	330	1	0	0	0	0	1	0	0	0	9328	943	33	3	1237	3	MASTL	10	27459095	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	26288246	27459095	108075652	41	17676											
VCL	7414	genome.wustl.edu	37	10	75867093	75867093	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr10:75867093C>G	ENST00000211998.4	+	17	2634	c.2540C>G	c.(2539-2541)cCa>cGa	p.P847R	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P847R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	847	Linker (Pro-rich).|Pro-rich.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCGCCTCCACCAGACCTTGAA	0.502																																																0			10											67	62	64					10																	75867093		2203	4300	6503	75537099	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2540C>G	10.37:g.75867093C>G	ENSP00000211998:p.Pro847Arg		75537099	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730116	0.89390	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.37058	1.22;1.22;1.22	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.73217	2.22	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.87578	0.994;0.994;0.998	T	0.63314	-0.6665	10	0.72032	D	0.01	.	20.1761	0.98178	0.0:1.0:0.0:0.0	.	774;847;847	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	R	847;847;754;774;519	ENSP00000361841:P847R;ENSP00000211998:P847R;ENSP00000415489:P519R	ENSP00000211998:P847R	P	+	2	0	VCL	75537099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.761000	0.68801	2.775000	0.95449	0.650000	0.86243	CCA		0.502	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		G	75867093	C	G	75867093	3	3	330	1	0	0	0	0	1	0	0	0	17139	594	21	3	2606	3	VCL	10	75867093	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	48407998	75867093	59667654	42	17677											
PNLIPRP2	5408	genome.wustl.edu	37	10	118401647	118401647	+	RNA	SNP	A	A	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr10:118401647A>G	ENST00000298771.7	+	0	1225				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AACCAGATGCAAGTCACACGT	0.348																																																0			10											48	47	47					10																	118401647		1862	4092	5954	118391637			5408			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118401647A>G			118391637	A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37																																																																																					0.348	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		G	118401647	A	G	118401647	1	3	330	0	1	0	0	0	0	0	0	0	12151	117	5	4		4	PNLIPRP2	10	118401647	RNA	SNP	A	TCGA-29-1699-01A-01W-0633-09	42534554	118401647	17133100	43	17678											
OR52A5	390054	genome.wustl.edu	37	11	5152972	5152972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr11:5152972G>A	ENST00000307388.1	-	1	900	c.901C>T	c.(901-903)Caa>Taa	p.Q301*		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	301					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCACGAATTTGCTTGGTCTTC	0.363																																																0			11											120	115	117					11																	5152972		2201	4298	6499	5109548	SO:0001587	stop_gained	390054			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.901C>T	11.37:g.5152972G>A	ENSP00000303469:p.Gln301*		5109548		Nonsense_Mutation	SNP	ENST00000307388.1	37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808682	0.50421	.	.	ENSG00000171944	ENST00000307388	.	.	.	4.6	1.42	0.22433	.	0.353982	0.20746	N	0.086445	.	.	.	.	.	.	0.53005	D	0.999961	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.8859	0.41262	0.0:0.381:0.493:0.126	.	.	.	.	X	301	.	ENSP00000303469:Q301X	Q	-	1	0	OR52A5	5109548	0.136000	0.22515	0.997000	0.53966	0.610000	0.37248	0.520000	0.22878	0.519000	0.28406	0.655000	0.94253	CAA		0.363	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		A	5152972	G	A	5152972	4	1	330	1	0	0	0	0	0	1	0	0	11110	1328	46	2	52	2	OR52A5	11	5152972	Nonsense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09		5152972	129853544	44	17679											
DENND5A	23258	genome.wustl.edu	37	11	9191492	9191492	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr11:9191492T>A	ENST00000328194.3	-	10	2382	c.2062A>T	c.(2062-2064)Acg>Tcg	p.T688S	DENND5A_ENST00000527700.1_Missense_Mutation_p.T31S|DENND5A_ENST00000530044.1_Missense_Mutation_p.T688S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	688					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCCTTTTCGTCCACCTAACA	0.448																																																0			11											217	188	198					11																	9191492		2201	4296	6497	9148068	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2062A>T	11.37:g.9191492T>A	ENSP00000328524:p.Thr688Ser		9148068	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548222	0.27652	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.16457	3.87;3.87;2.34	5.27	5.27	0.74061	.	0.102307	0.64402	D	0.000002	T	0.07908	0.0198	N	0.02539	-0.55	0.43036	D	0.994619	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.31110	-0.9955	10	0.20046	T	0.44	.	15.1926	0.73057	0.0:0.0:0.0:1.0	.	688;688	E9PS91;Q6IQ26	.;DEN5A_HUMAN	S	688;688;31	ENSP00000328524:T688S;ENSP00000435866:T688S;ENSP00000432549:T31S	ENSP00000328524:T688S	T	-	1	0	DENND5A	9148068	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.382000	0.52463	1.991000	0.58162	0.533000	0.62120	ACG		0.448	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		A	9191492	T	A	9191492	3	1	330	1	0	0	0	0	1	0	0	0	4436	1667	58	5	1857	5	DENND5A	11	9191492	Missense_Mutation	SNP	T	TCGA-29-1699-01A-01W-0633-09	4038520	9191492	125815024	45	17680											
OR8I2	120586	genome.wustl.edu	37	11	55861483	55861483	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr11:55861483C>A	ENST00000302124.2	+	1	731	c.700C>A	c.(700-702)Cag>Aag	p.Q234K		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGCAGGCAGGCAGAAGGCCTT	0.468																																																0			11											152	137	142					11																	55861483		2201	4296	6497	55618059	SO:0001583	missense	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.700C>A	11.37:g.55861483C>A	ENSP00000303864:p.Gln234Lys		55618059	B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	7.912	0.736667	0.15574	.	.	ENSG00000172154	ENST00000302124	T	0.00058	8.79	4.33	-3.68	0.04463	GPCR, rhodopsin-like superfamily (1);	1.321060	0.05579	N	0.572443	T	0.00109	0.0003	L	0.27944	0.81	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02533	-1.1145	10	0.23302	T	0.38	2.9586	6.0168	0.19607	0.5504:0.3325:0.0:0.1171	.	234	Q8N0Y5	OR8I2_HUMAN	K	234	ENSP00000303864:Q234K	ENSP00000303864:Q234K	Q	+	1	0	OR8I2	55618059	0.000000	0.05858	0.778000	0.31720	0.857000	0.48899	-0.423000	0.07034	-0.493000	0.06678	0.440000	0.28878	CAG		0.468	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		A	55861483	C	A	55861483	3	1	330	1	0	0	0	0	1	0	0	0	11240	711	25	3	702	3	OR8I2	11	55861483	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	46669991	55861483	79145033	46	17681											
FAT3	120114	genome.wustl.edu	37	11	92533259	92533259	+	Silent	SNP	C	C	T	rs548864892		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr11:92533259C>T	ENST00000298047.6	+	9	7097	c.7080C>T	c.(7078-7080)tgC>tgT	p.C2360C	FAT3_ENST00000409404.2_Silent_p.C2360C|FAT3_ENST00000525166.1_Silent_p.C2210C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2360	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAACACTGCACTTTGAAAG	0.418										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	0	0	5008	,	,		21482	0.001		0	False		,,,				2504	0															0			11											115	110	112					11																	92533259		1963	4148	6111	92172907	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7080C>T	11.37:g.92533259C>T			92172907	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92533259	C	T	92533259	2	4	330	1	0	0	0	0	0	0	0	1	5691	718	25	2		2	FAT3	11	92533259	Silent	SNP	C	TCGA-29-1699-01A-01W-0633-09	36671776	92533259	42473257	47	17682											
LRRK2	120892	genome.wustl.edu	37	12	40693012	40693012	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:40693012A>C	ENST00000298910.7	+	25	3507	c.3449A>C	c.(3448-3450)gAg>gCg	p.E1150A	LRRK2_ENST00000343742.2_Missense_Mutation_p.E1150A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1150					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AACTTTCTTGAGGCTTGTCCT	0.413																																																0			12											180	193	189					12																	40693012		2203	4300	6503	38979279	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3449A>C	12.37:g.40693012A>C	ENSP00000298910:p.Glu1150Ala		38979279	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	9.064	0.995196	0.19043	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.23552	2.27;1.9	5.12	5.12	0.69794	.	0.273464	0.34879	N	0.003617	T	0.20577	0.0495	L	0.43152	1.355	0.20926	N	0.999824	B;B	0.18968	0.032;0.027	B;B	0.19666	0.026;0.02	T	0.13202	-1.0518	10	0.29301	T	0.29	.	8.1078	0.30896	0.73:0.1378:0.0:0.1322	.	1150;1150	E9PC85;Q5S007	.;LRRK2_HUMAN	A	1150	ENSP00000341930:E1150A;ENSP00000298910:E1150A	ENSP00000298910:E1150A	E	+	2	0	LRRK2	38979279	0.995000	0.38212	0.739000	0.30968	0.987000	0.75469	2.490000	0.45294	1.912000	0.55364	0.260000	0.18958	GAG		0.413	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		C	40693012	A	C	40693012	3	2	330	1	0	0	0	0	1	0	0	0	9033	304	11	5	3547	5	LRRK2	12	40693012	Missense_Mutation	SNP	A	TCGA-29-1699-01A-01W-0633-09		40693012	93158883	48	17683											
CSRNP2	81566	genome.wustl.edu	37	12	51461474	51461477	+	Frame_Shift_Del	DEL	CTGG	CTGG	-			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	CTGG	CTGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:51461474_51461477delCTGG	ENST00000228515.1	-	4	984_987	c.687_690delCCAG	c.(685-690)agccagfs	p.SQ229fs		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	229	Cys-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						TAATCCCAGCCTGGCTGCAGGCAC	0.554																																																0			12																																								49747744	SO:0001589	frameshift_variant	81566			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.687_690delCCAG	12.37:g.51461474_51461477delCTGG	ENSP00000228515:p.Ser229fs		49747741		Frame_Shift_Del	DEL	ENST00000228515.1	37	CCDS8807.1																																																																																				0.554	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			-	51461477	CTGG	-	51461474	7	5	330	1	0	1	0	1	0	0	0	0	3964	680	24	0	949	0	CSRNP2	12	51461474	Frame_Shift_Del	DEL	CTGG	TCGA-29-1699-01A-01W-0633-09	10768462	51461474	82390421	49	17684	23	2									
CSRNP2	81566	genome.wustl.edu	37	12	51461484	51461488	+	Frame_Shift_Del	DEL	GCACA	GCACA	-			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	GCACA	GCACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:51461484_51461488delGCACA	ENST00000228515.1	-	4	973_977	c.676_680delTGTGC	c.(676-681)tgtgccfs	p.CA226fs		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	226	Cys-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CTGGCTGCAGGCACACGCTTCTGGG	0.546																																																0			12																																								49747755	SO:0001589	frameshift_variant	81566			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.676_680delTGTGC	12.37:g.51461484_51461488delGCACA	ENSP00000228515:p.Cys226fs		49747751		Frame_Shift_Del	DEL	ENST00000228515.1	37	CCDS8807.1																																																																																				0.546	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			-	51461488	GCACA	-	51461484	7	5	330	1	0	1	0	1	0	0	0	0	3964	1203	42	0	959	0	CSRNP2	12	51461484	Frame_Shift_Del	DEL	GCACA	TCGA-29-1699-01A-01W-0633-09	10	51461484	82390411	50	17685	23	2									
STAT6	6778	genome.wustl.edu	37	12	57496628	57496628	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:57496628T>C	ENST00000300134.3	-	12	1614	c.1289A>G	c.(1288-1290)aAt>aGt	p.N430S	STAT6_ENST00000538913.2_Missense_Mutation_p.N320S|STAT6_ENST00000543873.2_Missense_Mutation_p.N430S|STAT6_ENST00000454075.3_Missense_Mutation_p.N430S|STAT6_ENST00000537215.2_Missense_Mutation_p.N320S|STAT6_ENST00000556155.1_Missense_Mutation_p.N430S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	430					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGAGAAGGCATTGTCCCACAG	0.577																																																0			12											149	115	127					12																	57496628		2203	4300	6503	55782895	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1289A>G	12.37:g.57496628T>C	ENSP00000300134:p.Asn430Ser		55782895	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175523	0.78564	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.44	5.44	0.79542	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.097301	0.64402	D	0.000001	D	0.94918	0.8357	M	0.66939	2.045	0.47065	D	0.999305	D;D	0.71674	0.998;0.997	D;D	0.69654	0.965;0.936	D	0.95256	0.8364	10	0.87932	D	0	-17.3227	13.4858	0.61364	0.0:0.0:0.0:1.0	.	430;430	A8K4S9;P42226	.;STAT6_HUMAN	S	430;320;320;430;430;320;430;320;430	ENSP00000300134:N430S;ENSP00000445409:N320S;ENSP00000438451:N430S;ENSP00000451742:N430S;ENSP00000444530:N320S;ENSP00000401486:N430S	ENSP00000300134:N430S	N	-	2	0	STAT6	55782895	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.572000	0.45999	2.285000	0.76669	0.528000	0.53228	AAT		0.577	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		C	57496628	T	C	57496628	3	2	330	1	0	0	0	0	1	0	0	0	15272	1493	52	4	1298	4	STAT6	12	57496628	Missense_Mutation	SNP	T	TCGA-29-1699-01A-01W-0633-09	6035144	57496628	76355267	51	17686											
LTA4H	4048	genome.wustl.edu	37	12	96414915	96414915	+	Splice_Site	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:96414915C>A	ENST00000228740.2	-	6	727	c.586G>T	c.(586-588)Gtt>Ttt	p.V196F	LTA4H_ENST00000413268.2_Splice_Site_p.V172F|LTA4H_ENST00000552789.1_Splice_Site_p.V172F	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	196					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GGTATTGGAACCTAAAGAGGG	0.373																																																0			12											98	89	92					12																	96414915		2203	4300	6503	94939046	SO:0001630	splice_region_variant	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.586-1G>T	12.37:g.96414915C>A			94939046	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041031	0.75732	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.04406	3.63;3.63;3.63	6.07	6.07	0.98685	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.20780	0.0500	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	T	0.00108	-1.2051	10	0.29301	T	0.29	-24.7069	20.6525	0.99598	0.0:1.0:0.0:0.0	.	172;172;196	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	F	196;172;172	ENSP00000228740:V196F;ENSP00000449958:V172F;ENSP00000395051:V172F	ENSP00000228740:V196F	V	-	1	0	LTA4H	94939046	1.000000	0.71417	0.997000	0.53966	0.283000	0.27025	5.784000	0.68990	2.890000	0.99128	0.585000	0.79938	GTT		0.373	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895	Missense_Mutation	A	96414915	C	A	96414915	5	1	330	1	0	0	0	0	0	0	1	0	9069	521	18	3	1305	3	LTA4H	12	96414915	Splice_Site	SNP	C	TCGA-29-1699-01A-01W-0633-09	38918287	96414915	37436980	52	17687											
EIF2B1	1967	genome.wustl.edu	37	12	124106399	124106399	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr12:124106399G>A	ENST00000424014.2	-	9	1030	c.822C>T	c.(820-822)gaC>gaT	p.D274D	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	274					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGGCAGTGTAGTCGACCCACG	0.527																																																0			12											164	102	123					12																	124106399		2203	4300	6503	122672352	SO:0001819	synonymous_variant	1967			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.822C>T	12.37:g.124106399G>A			122672352	A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	CCDS31924.1																																																																																				0.527	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		A	124106399	G	A	124106399	2	1	330	1	0	0	0	0	0	0	0	1	5000	1020	36	2		2	EIF2B1	12	124106399	Silent	SNP	G	TCGA-29-1699-01A-01W-0633-09	27691484	124106399	9745496	53	17688											
SLC7A8	23428	genome.wustl.edu	37	14	23607130	23607130	+	Splice_Site	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr14:23607130C>T	ENST00000316902.7	-	7	1741	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	SLC7A8_ENST00000422941.2_Splice_Site_p.R115Q|SLC7A8_ENST00000529705.2_Splice_Site_p.R234Q|SLC7A8_ENST00000532568.1_5'Flank|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Splice_Site_p.R136Q	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	339					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAGCACTCACCGAGAGGAGGT	0.557																																																0			14											98	98	98					14																	23607130		2203	4300	6503	22676970	SO:0001630	splice_region_variant	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1016+1G>A	14.37:g.23607130C>T			22676970	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	36	5.730598	0.96856	.	.	ENSG00000092068	ENST00000316902;ENST00000453702;ENST00000529705;ENST00000422941;ENST00000206514	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.44	5.44	0.79542	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74674	0.983;0.984;0.977	D	0.99316	1.0905	9	.	.	.	.	18.4153	0.90567	0.0:1.0:0.0:0.0	.	234;115;339	B4DKT4;B4DTV6;Q9UHI5	.;.;LAT2_HUMAN	Q	339;136;234;115;136	ENSP00000320378:R339Q;ENSP00000391577:R136Q;ENSP00000434345:R234Q;ENSP00000416398:R115Q	.	R	-	2	0	SLC7A8	22676970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.553000	0.82203	2.724000	0.93272	0.563000	0.77884	CGG		0.557	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3		Missense_Mutation	T	23607130	C	T	23607130	5	4	330	1	0	0	0	0	0	0	1	0	14707	666	23	1	611	1	SLC7A8	14	23607130	Splice_Site	SNP	C	TCGA-29-1699-01A-01W-0633-09		23607130	83742410	54	17689											
NDN	4692	genome.wustl.edu	37	15	23932143	23932143	+	Silent	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:23932143C>T	ENST00000331837.4	-	1	307	c.222G>A	c.(220-222)gcG>gcA	p.A74A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	74					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCCCTCCTCCGCAGCCTGCT	0.786									Prader-Willi syndrome																																							0			15											3	3	3					15																	23932143		1282	2698	3980	21483236	SO:0001819	synonymous_variant	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.222G>A	15.37:g.23932143C>T			21483236	B2R6Z5	Silent	SNP	ENST00000331837.4	37	CCDS10014.1																																																																																				0.786	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		T	23932143	C	T	23932143	2	4	330	1	0	0	0	0	0	0	0	1	10247	639	23	1		1	NDN	15	23932143	Silent	SNP	C	TCGA-29-1699-01A-01W-0633-09		23932143	78599249	55	17690											
IQCH	64799	genome.wustl.edu	37	15	67681322	67681322	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:67681322C>G	ENST00000335894.4	+	12	1676	c.1610C>G	c.(1609-1611)cCt>cGt	p.P537R	IQCH_ENST00000358767.3_Missense_Mutation_p.P364R|IQCH_ENST00000546225.1_Missense_Mutation_p.P285R|IQCH_ENST00000360277.4_Missense_Mutation_p.P289R	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	537										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATTATCACACCTGAAGCTGTA	0.388																																																0			15											133	118	123					15																	67681322		2201	4299	6500	65468376	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1610C>G	15.37:g.67681322C>G	ENSP00000336861:p.Pro537Arg		65468376	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355881	0.82243	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	D;D;T;D	0.90900	-2.75;-2.65;-0.2;-2.57	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	M	0.82056	2.57	0.35193	D	0.773523	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.996;1.0	D	0.97695	1.0181	10	0.87932	D	0	-14.2872	20.2985	0.98592	0.0:1.0:0.0:0.0	.	285;289;537	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	R	364;285;537;289	ENSP00000351617:P364R;ENSP00000444118:P285R;ENSP00000336861:P537R;ENSP00000353419:P289R	ENSP00000336861:P537R	P	+	2	0	IQCH	65468376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.270000	0.65547	2.793000	0.96121	0.655000	0.94253	CCT		0.388	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		G	67681322	C	G	67681322	3	3	330	1	0	0	0	0	1	0	0	0	7811	681	24	3	1784	3	IQCH	15	67681322	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	43749179	67681322	34850070	56	17691											
CORO2B	10391	genome.wustl.edu	37	15	69018290	69018290	+	Missense_Mutation	SNP	C	C	T	rs546189688		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:69018290C>T	ENST00000566799.1	+	12	1449	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	CORO2B_ENST00000261861.5_Missense_Mutation_p.R469C|CORO2B_ENST00000543950.1_Missense_Mutation_p.R469C|CORO2B_ENST00000540068.1_Missense_Mutation_p.R469C			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	474					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAAAAACTTGCGCAACAGCCC	0.527													C|||	1	0.000199681	8e-04	0	5008	,	,		17256	0		0	False		,,,				2504	0															0			15											55	55	55					15																	69018290		2200	4298	6498	66805344	SO:0001583	missense	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1420C>T	15.37:g.69018290C>T	ENSP00000454783:p.Arg474Cys		66805344	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619263	0.66787	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.61274	0.12;0.12	3.62	2.69	0.31865	.	0.121256	0.52532	D	0.000061	T	0.59528	0.2200	L	0.61218	1.895	0.58432	D	0.999997	D	0.64830	0.994	P	0.52758	0.708	T	0.59490	-0.7445	10	0.72032	D	0.01	-6.0309	5.4172	0.16380	0.1973:0.6932:0.0:0.1094	.	474	Q9UQ03	COR2B_HUMAN	C	474;469;469	ENSP00000446250:R469C;ENSP00000443819:R469C	ENSP00000261861:R474C	R	+	1	0	CORO2B	66805344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.701000	0.61810	0.632000	0.30432	0.442000	0.29010	CGC		0.527	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		T	69018290	C	T	69018290	3	4	330	1	0	0	0	0	1	0	0	0	3757	768	27	1	1466	1	CORO2B	15	69018290	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	1336968	69018290	33513102	57	17692											
ADAMTSL3	57188	genome.wustl.edu	37	15	84651306	84651306	+	Missense_Mutation	SNP	G	G	A	rs150618994		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr15:84651306G>A	ENST00000286744.5	+	21	3150	c.2926G>A	c.(2926-2928)Gac>Aac	p.D976N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D976N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	976	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCCCCCGACATCGGCGT	0.567																																																0			15						G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	80	81	81		2926	5.1	0.9	15	dbSNP_134	81	0,8600		0,0,4300	no	missense	ADAMTSL3	NM_207517.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	976/1692	84651306	1,13005	2203	4300	6503	82442310	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2926G>A	15.37:g.84651306G>A	ENSP00000286744:p.Asp976Asn		82442310	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810721	0.70797	2.27E-4	0.0	ENSG00000156218	ENST00000286744	D	0.85484	-1.99	5.05	5.05	0.67936	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000335	D	0.94712	0.8294	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95906	0.8919	10	0.62326	D	0.03	.	18.4388	0.90656	0.0:0.0:1.0:0.0	.	976;976	P82987-2;P82987	.;ATL3_HUMAN	N	976	ENSP00000286744:D976N	ENSP00000286744:D976N	D	+	1	0	ADAMTSL3	82442310	1.000000	0.71417	0.869000	0.34112	0.057000	0.15508	6.786000	0.75094	2.338000	0.79540	0.563000	0.77884	GAC		0.567	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		A	84651306	G	A	84651306	3	1	330	1	0	0	0	0	1	0	0	0	276	1058	37	1	3004	1	ADAMTSL3	15	84651306	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	15633016	84651306	17880086	58	17693											
CREBBP	1387	genome.wustl.edu	37	16	3860721	3860721	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr16:3860721C>A	ENST00000262367.5	-	3	1667	c.858G>T	c.(856-858)caG>caT	p.Q286H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q286H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	286	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCCCATTGGCTGCCCTCCAG	0.488			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16											119	112	114					16																	3860721		2197	4300	6497	3800722	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.858G>T	16.37:g.3860721C>A	ENSP00000262367:p.Gln286His		3800722	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589720	0.46214	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84589	-1.87;-1.87	5.28	4.23	0.50019	.	0.000000	0.64402	D	0.000003	D	0.90304	0.6967	M	0.66297	2.02	0.50632	D	0.999882	D;D	0.89917	0.999;1.0	D;D	0.77557	0.987;0.99	D	0.90467	0.4450	10	0.59425	D	0.04	-7.7447	12.4292	0.55565	0.0:0.8869:0.0:0.1131	.	354;286	Q4LE28;Q92793	.;CBP_HUMAN	H	286;354;286	ENSP00000262367:Q286H;ENSP00000371502:Q286H	ENSP00000262367:Q286H	Q	-	3	2	CREBBP	3800722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.225000	0.32551	2.462000	0.83206	0.563000	0.77884	CAG		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3860721	C	A	3860721	3	1	330	1	0	0	0	0	1	0	0	0	3861	796	28	3	6586	3	CREBBP	16	3860721	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09		3860721	86494032	59	17694											
ITGAD	3681	genome.wustl.edu	37	16	31429472	31429472	+	Missense_Mutation	SNP	G	G	A	rs369360258		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr16:31429472G>A	ENST00000389202.2	+	21	2625	c.2576G>A	c.(2575-2577)cGc>cAc	p.R859H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	859					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGAAGCAGCCGCTGCAGTGTC	0.552																																																0			16						G	HIS/ARG	3,4391	6.2+/-15.9	0,3,2194	132	125	127		2576	0.7	0.8	16		127	0,8600		0,0,4300	no	missense	ITGAD	NM_005353.2	29	0,3,6494	AA,AG,GG		0.0,0.0683,0.0231	possibly-damaging	859/1162	31429472	3,12991	2197	4300	6497	31336973	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2576G>A	16.37:g.31429472G>A	ENSP00000373854:p.Arg859His		31336973	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	9.026	0.985978	0.18889	6.83E-4	0.0	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.48522	0.81	5.06	0.696	0.18075	Integrin alpha-2 (1);	.	.	.	.	T	0.28995	0.0720	L	0.27053	0.805	0.18873	N	0.999981	P;B	0.34629	0.46;0.314	B;B	0.29942	0.109;0.109	T	0.17531	-1.0366	9	0.72032	D	0.01	.	4.9208	0.13869	0.2667:0.1525:0.5808:0.0	.	875;859	Q59H14;Q13349	.;ITAD_HUMAN	H	875;859	ENSP00000373854:R859H	ENSP00000373854:R859H	R	+	2	0	ITGAD	31336973	0.392000	0.25229	0.769000	0.31535	0.025000	0.11179	0.814000	0.27239	0.178000	0.19917	-0.137000	0.14449	CGC		0.552	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		A	31429472	G	A	31429472	3	1	330	1	0	0	0	0	1	0	0	0	7884	1087	38	1	2658	1	ITGAD	16	31429472	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	27568751	31429472	58925281	60	17695											
CENPN	55839	genome.wustl.edu	37	16	81066242	81066242	+	Silent	SNP	G	G	T	rs556967474		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr16:81066242G>T	ENST00000393335.3	+	11	1079	c.1005G>T	c.(1003-1005)ccG>ccT	p.P335P	RP11-303E16.2_ENST00000566639.1_RNA|RP11-303E16.3_ENST00000561808.1_RNA|RP11-303E16.3_ENST00000566390.1_RNA	NM_001100625.2	NP_001094095.2	Q96H22	CENPN_HUMAN	centromere protein N	0					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						cccaggacccgagcagctggc	0.398																																																0			16											67	71	70					16																	81066242		1867	4099	5966	79623743	SO:0001819	synonymous_variant	55839			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"chromosome 16 open reading frame 60"	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000393335.3:c.1005G>T	16.37:g.81066242G>T			79623743	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Silent	SNP	ENST00000393335.3	37	CCDS42199.1																																																																																				0.398	CENPN-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269052.1	NM_018455		T	81066242	G	T	81066242	2	4	330	1	0	0	0	0	0	0	0	1	3238	1045	37	3		3	CENPN	16	81066242	Silent	SNP	G	TCGA-29-1699-01A-01W-0633-09	49636770	81066242	9288511	61	17696											
MBTPS1	8720	genome.wustl.edu	37	16	84118678	84118678	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr16:84118678C>T	ENST00000343411.3	-	10	1691	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	399	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCAGAACCCCGCACGCCAGC	0.562											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			16											77	68	71					16																	84118678		2200	4300	6500	82676179	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1196G>A	16.37:g.84118678C>T	ENSP00000344223:p.Arg399Gln	1226	82676179	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805302	0.70682	.	.	ENSG00000140943	ENST00000343411	T	0.41758	0.99	5.48	5.48	0.80851	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	L	0.27053	0.805	0.80722	D	1	P	0.40638	0.725	B	0.38842	0.283	T	0.06144	-1.0843	10	0.29301	T	0.29	-16.7162	19.3469	0.94367	0.0:1.0:0.0:0.0	.	399	Q14703	MBTP1_HUMAN	Q	399	ENSP00000344223:R399Q	ENSP00000344223:R399Q	R	-	2	0	MBTPS1	82676179	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.818000	0.86416	2.560000	0.86352	0.561000	0.74099	CGG		0.562	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		T	84118678	C	T	84118678	3	4	330	1	0	0	0	0	1	0	0	0	9361	652	23	1	2018	1	MBTPS1	16	84118678	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	3052436	84118678	6236075	62	17697											
TP53	7157	genome.wustl.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	rs138729528		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr17:7578407G>C	ENST00000269305.4	-	5	712	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000420246.2_Missense_Mutation_p.R175G|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(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)	TGGGGGCAGCGCCTCACAACC	0.657		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"	93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(1)	17	GRCh37	CM011013	TP53	M	rs138729528						50	50	50					17																	7578407		2203	4300	6503	7519132	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.523C>G	17.37:g.7578407G>C	ENSP00000269305:p.Arg175Gly		7519132	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	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570086	0.65765	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99862	0.9935	M	0.92784	3.345	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.987;1.0;0.999;0.992;0.975;1.0	D	0.98196	1.0465	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175G;ENSP00000352610:R175G;ENSP00000269305:R175G;ENSP00000398846:R175G;ENSP00000391127:R175G;ENSP00000391478:R175G;ENSP00000425104:R43G;ENSP00000423862:R82G	ENSP00000269305:R175G	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC		0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578407	G	C	7578407	3	2	330	1	0	0	0	0	1	0	0	0	16381	1087	38	3	775	3	TP53	17	7578407	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09		7578407	73616803	63	17698											
KRT10	3858	genome.wustl.edu	37	17	38975308	38975319	+	In_Frame_Del	DEL	GCCGCCGTGGCC	GCCGCCGTGGCC	-			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	GCCGCCGTGGCC	GCCGCCGTGGCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr17:38975308_38975319delGCCGCCGTGGCC	ENST00000269576.5	-	7	1477_1488	c.1468_1479delGGCCACGGCGGC	c.(1468-1479)ggccacggcggcdel	p.GHGG490del	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	490	Gly-rich.|Ser-rich.|Tail.			Missing (in Ref. 8; AAA59199). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				cgccggaactgccgccgtggccgccgccgtgg	0.783																																																0			17								48,88		23,2,43						2.4	0.2			1	241,217		113,15,101	no	coding	KRT10	NM_000421.3		136,17,144	A1A1,A1R,RR		47.3799,35.2941,48.6532				289,305				36228845	SO:0001651	inframe_deletion	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1468_1479delGGCCACGGCGGC	17.37:g.38975308_38975319delGCCGCCGTGGCC	ENSP00000269576:p.Gly490_Gly493del		36228834	Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	CCDS11377.1																																																																																				0.783	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		-	38975319	GCCGCCGTGGCC	-	38975308	7	5	330	1	0	1	0	1	0	0	0	0	8448	1306	46	0	283	0	KRT10	17	38975308	In_Frame_Del	DEL	GCCGCCGTGGCC	TCGA-29-1699-01A-01W-0633-09	31396901	38975308	42219902	64	17699											
NOL4	8715	genome.wustl.edu	37	18	31709893	31709893	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr18:31709893G>T	ENST00000261592.5	-	2	653	c.356C>A	c.(355-357)aCg>aAg	p.T119K	NOL4_ENST00000538587.1_Missense_Mutation_p.T45K|NOL4_ENST00000269185.4_Missense_Mutation_p.T5K|NOL4_ENST00000589544.1_Missense_Mutation_p.T119K|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	119						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATTTGGCCCCGTTTCCACATG	0.403																																																0			18											143	125	131					18																	31709893		2203	4300	6503	29963891	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.356C>A	18.37:g.31709893G>T	ENSP00000261592:p.Thr119Lys		29963891	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241768	0.79912	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000538587	D	0.83755	-1.76	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	D	0.87454	0.6181	L	0.44542	1.39	0.80722	D	1	P;D;D;D	0.67145	0.938;0.996;0.996;0.991	P;D;D;P	0.62955	0.826;0.909;0.909;0.879	D	0.86578	0.1852	10	0.45353	T	0.12	-14.1847	18.866	0.92292	0.0:0.0:1.0:0.0	.	5;45;119;119	B4DLW2;B4DSQ0;O94818;O94818-2	.;.;NOL4_HUMAN;.	K	119;5;45	ENSP00000261592:T119K	ENSP00000261592:T119K	T	-	2	0	NOL4	29963891	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.422000	0.66453	2.710000	0.92621	0.585000	0.79938	ACG		0.403	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		T	31709893	G	T	31709893	3	4	330	1	0	0	0	0	1	0	0	0	10524	1145	40	3	1600	3	NOL4	18	31709893	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09		31709893	46367355	65	17700											
FAM187B	148109	genome.wustl.edu	37	19	35715950	35715950	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr19:35715950G>A	ENST00000324675.3	-	2	936	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	296						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CGGCGGGTTTGAACTGGGCCA	0.667																																																0			19											25	28	27					19																	35715950		2203	4300	6503	40407790	SO:0001819	synonymous_variant	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.888C>T	19.37:g.35715950G>A			40407790	Q8N7G6	Silent	SNP	ENST00000324675.3	37	CCDS12448.1																																																																																				0.667	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		A	35715950	G	A	35715950	2	1	330	1	0	0	0	0	0	0	0	1	5513	1281	45	2		2	FAM187B	19	35715950	Silent	SNP	G	TCGA-29-1699-01A-01W-0633-09		35715950	23413033	66	17701											
MAP3K10	4294	genome.wustl.edu	37	19	40711187	40711187	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr19:40711187T>C	ENST00000253055.3	+	4	1460	c.1172T>C	c.(1171-1173)cTt>cCt	p.L391P	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	391	Leucine-zipper 1.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTTGATGACCTTCGGACCAAG	0.557																																																0			19											59	57	57					19																	40711187		2203	4300	6503	45403027	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1172T>C	19.37:g.40711187T>C	ENSP00000253055:p.Leu391Pro		45403027	Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072024	0.76415	.	.	ENSG00000130758	ENST00000253055	T	0.80480	-1.38	4.8	4.8	0.61643	.	0.071558	0.56097	D	0.000025	D	0.88433	0.6435	M	0.79614	2.46	0.80722	D	1	D	0.65815	0.995	D	0.68765	0.96	D	0.89802	0.3976	10	0.87932	D	0	.	12.5863	0.56419	0.0:0.0:0.0:1.0	.	391	Q02779	M3K10_HUMAN	P	391	ENSP00000253055:L391P	ENSP00000253055:L391P	L	+	2	0	MAP3K10	45403027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.907000	0.87430	1.904000	0.55121	0.477000	0.44152	CTT		0.557	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		C	40711187	T	C	40711187	3	2	330	1	0	0	0	0	1	0	0	0	9244	1609	56	4	1186	4	MAP3K10	19	40711187	Missense_Mutation	SNP	T	TCGA-29-1699-01A-01W-0633-09	4995237	40711187	18417796	67	17702											
ZNF528	84436	genome.wustl.edu	37	19	52919382	52919382	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr19:52919382G>A	ENST00000360465.3	+	7	1703	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	426					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.R426Q(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GACCTTATACGACATCGAAAA	0.393																																																1	Substitution - Missense(1)	large_intestine(1)	19											77	78	78					19																	52919382		2203	4300	6503	57611194	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1277G>A	19.37:g.52919382G>A	ENSP00000353652:p.Arg426Gln		57611194	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	1.969	-0.436942	0.04636	.	.	ENSG00000167555	ENST00000360465	T	0.26223	1.75	1.81	-3.4	0.04853	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12518	0.0304	L	0.56340	1.77	0.09310	N	1	P	0.37955	0.612	B	0.17433	0.018	T	0.25606	-1.0127	9	0.20519	T	0.43	.	1.0203	0.01516	0.2734:0.1666:0.3928:0.1672	.	426	Q3MIS6	ZN528_HUMAN	Q	426	ENSP00000353652:R426Q	ENSP00000353652:R426Q	R	+	2	0	ZNF528	57611194	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-11.162000	0.00004	-0.328000	0.08539	-0.768000	0.03414	CGA		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		A	52919382	G	A	52919382	3	1	330	1	0	0	0	0	1	0	0	0	17969	1058	37	1	1291	1	ZNF528	19	52919382	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	12208195	52919382	6209601	68	17703											
NLRP8	126205	genome.wustl.edu	37	19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	rs149738419		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512																																																0			19						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	117	107	111		272	-1.3	0	19	dbSNP_134	111	0,8600		0,0,4300	no	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	91/1049	56459540	1,13005	2203	4300	6503	61151352	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.272G>A	19.37:g.56459540G>A	ENSP00000291971:p.Arg91His		61151352	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	8.122	0.781099	0.16120	2.27E-4	0.0	ENSG00000179709	ENST00000291971	T	0.44083	0.93	2.23	-1.29	0.09288	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.11879	0.0289	N	0.03209	-0.39	0.09310	N	1	P;B	0.45634	0.863;0.064	B;B	0.36922	0.236;0.0	T	0.12372	-1.0550	9	0.06365	T	0.9	.	2.9194	0.05764	0.4182:0.2521:0.3298:0.0	.	91;91	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	91	ENSP00000291971:R91H	ENSP00000291971:R91H	R	+	2	0	NLRP8	61151352	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-1.790000	0.01759	-0.408000	0.07565	-0.492000	0.04666	CGT		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		A	56459540	G	A	56459540	3	1	330	1	0	0	0	0	1	0	0	0	10483	1145	40	1	274	1	NLRP8	19	56459540	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09	3540158	56459540	2669443	69	17704											
CEP250	11190	genome.wustl.edu	37	20	34099253	34099253	+	Missense_Mutation	SNP	G	G	A	rs374274791		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr20:34099253G>A	ENST00000397527.1	+	35	7847	c.7127G>A	c.(7126-7128)cGc>cAc	p.R2376H	CEP250_ENST00000342580.4_Missense_Mutation_p.R2320H	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2376					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TACATCACCCGCTCAGCACAG	0.592																																																0			20											59	56	57					20																	34099253		2203	4300	6503	33562667	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7127G>A	20.37:g.34099253G>A	ENSP00000380661:p.Arg2376His		33562667	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748278	0.69533	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.62232	2.17;2.14;0.04	4.29	4.29	0.51040	.	0.125415	0.36628	N	0.002490	T	0.77089	0.4079	M	0.76574	2.34	0.29630	N	0.845488	D	0.89917	1.0	D	0.87578	0.998	T	0.73767	-0.3879	10	0.52906	T	0.07	.	13.2422	0.60004	0.0:0.1604:0.8396:0.0	.	2376	Q9BV73	CP250_HUMAN	H	2376;2320;811	ENSP00000380661:R2376H;ENSP00000341541:R2320H;ENSP00000395992:R811H	ENSP00000341541:R2320H	R	+	2	0	CEP250	33562667	1.000000	0.71417	0.988000	0.46212	0.970000	0.65996	4.753000	0.62183	2.233000	0.73108	0.563000	0.77884	CGC		0.592	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		A	34099253	G	A	34099253	3	1	330	1	0	0	0	0	1	0	0	0	3252	1087	38	1	7253	1	CEP250	20	34099253	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09		34099253	28926267	70	17705											
PIGT	51604	genome.wustl.edu	37	20	44048172	44048172	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr20:44048172A>G	ENST00000279036.6	+	5	703	c.623A>G	c.(622-624)gAt>gGt	p.D208G	PIGT_ENST00000535404.1_Missense_Mutation_p.D53G|PIGT_ENST00000279035.9_Missense_Mutation_p.D106G|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_5'UTR|PIGT_ENST00000372689.5_Missense_Mutation_p.D208G|PIGT_ENST00000543458.2_Missense_Mutation_p.D152G	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	208					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTGAAGGCAGATCGCTTGTTC	0.557																																																0			20											141	133	136					20																	44048172		2203	4300	6503	43481586	SO:0001583	missense	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.623A>G	20.37:g.44048172A>G	ENSP00000279036:p.Asp208Gly		43481586	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746490	0.49257	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000535404	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	6.17	6.17	0.99709	.	0.102629	0.64402	D	0.000004	T	0.30230	0.0758	N	0.02247	-0.625	0.80722	D	1	B;B;B;P;P;B	0.49783	0.016;0.0;0.013;0.928;0.925;0.001	B;B;B;P;P;B	0.51895	0.016;0.003;0.009;0.683;0.616;0.005	T	0.37641	-0.9697	10	0.22706	T	0.39	-17.2119	16.0034	0.80327	1.0:0.0:0.0:0.0	.	46;106;53;152;64;208	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;Q969N2-3;Q969N2	.;.;.;.;.;PIGT_HUMAN	G	152;208;106;208;106;53	ENSP00000441577:D152G;ENSP00000361774:D208G;ENSP00000279035:D106G;ENSP00000279036:D208G;ENSP00000407574:D106G;ENSP00000440528:D53G	ENSP00000279035:D106G	D	+	2	0	PIGT	43481586	1.000000	0.71417	0.457000	0.27056	0.983000	0.72400	8.942000	0.92970	2.371000	0.80710	0.533000	0.62120	GAT		0.557	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		G	44048172	A	G	44048172	3	3	330	1	0	0	0	0	1	0	0	0	11899	333	12	4	641	4	PIGT	20	44048172	Missense_Mutation	SNP	A	TCGA-29-1699-01A-01W-0633-09	9948919	44048172	18977348	71	17706											
KRTAP27-1	643812	genome.wustl.edu	37	21	31709534	31709534	+	Silent	SNP	G	G	A			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr21:31709534G>A	ENST00000382835.2	-	1	478	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	151						intermediate filament (GO:0005882)		p.F151F(2)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CCAGAGTTTCGAAATTTTTAG	0.493																																																2	Substitution - coding silent(2)	endometrium(2)	21											144	146	145					21																	31709534		2203	4300	6503	30631405	SO:0001819	synonymous_variant	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.453C>T	21.37:g.31709534G>A			30631405		Silent	SNP	ENST00000382835.2	37	CCDS33532.1																																																																																				0.493	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		A	31709534	G	A	31709534	2	1	330	1	0	0	0	0	0	0	0	1	8544	1049	37	1		1	KRTAP27-1	21	31709534	Silent	SNP	G	TCGA-29-1699-01A-01W-0633-09		31709534	16420361	72	17707											
PLA2G3	50487	genome.wustl.edu	37	22	31536221	31536221	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr22:31536221G>C	ENST00000215885.3	-	1	372	c.120C>G	c.(118-120)aaC>aaG	p.N40K		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	40					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCCCAGTGGGTTGCCAGGGA	0.657																																																0			22											56	60	59					22																	31536221		2203	4299	6502	29866221	SO:0001583	missense	50487			AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.120C>G	22.37:g.31536221G>C	ENSP00000215885:p.Asn40Lys		29866221	O95768	Missense_Mutation	SNP	ENST00000215885.3	37	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	G	8.487	0.861064	0.17178	.	.	ENSG00000100078	ENST00000215885	T	0.11277	2.79	5.69	-1.05	0.10036	.	0.901172	0.09803	N	0.753849	T	0.06234	0.0161	L	0.43152	1.355	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.42666	-0.9438	10	0.06891	T	0.86	-0.3904	1.7447	0.02959	0.1738:0.1343:0.4183:0.2736	.	40	Q9NZ20	PA2G3_HUMAN	K	40	ENSP00000215885:N40K	ENSP00000215885:N40K	N	-	3	2	PLA2G3	29866221	0.000000	0.05858	0.001000	0.08648	0.603000	0.37013	0.020000	0.13466	0.023000	0.15187	0.655000	0.94253	AAC		0.657	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		C	31536221	G	C	31536221	3	2	330	1	0	0	0	0	1	0	0	0	12000	1252	44	3	1437	3	PLA2G3	22	31536221	Missense_Mutation	SNP	G	TCGA-29-1699-01A-01W-0633-09		31536221	19768345	73	17708											
SSTR3	6753	genome.wustl.edu	37	22	37603372	37603372	+	Silent	SNP	A	A	G	rs139412995	byFrequency	TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chr22:37603372A>G	ENST00000328544.3	-	2	1004	c.471T>C	c.(469-471)gcT>gcC	p.A157A	SSTR3_ENST00000402501.1_Silent_p.A157A	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	157					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GGGCCACCGGAGCTGTGCGCC	0.677													A|||	2	0.000399361	0	0.0014	5008	,	,		16006	0		0.001	False		,,,				2504	0															0			22						A		5,4401	9.9+/-24.2	0,5,2198	55	52	53		471	-7.2	0.6	22	dbSNP_134	53	41,8555	24.0+/-70.4	1,39,4258	no	coding-synonymous	SSTR3	NM_001051.2		1,44,6456	GG,GA,AA		0.477,0.1135,0.3538		157/419	37603372	46,12956	2203	4298	6501	35933318	SO:0001819	synonymous_variant	6753				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.471T>C	22.37:g.37603372A>G			35933318	A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	CCDS13944.1																																																																																				0.677	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			G	37603372	A	G	37603372	2	3	330	1	0	0	0	0	0	0	0	1	15201	291	11	4		4	SSTR3	22	37603372	Silent	SNP	A	TCGA-29-1699-01A-01W-0633-09	6067151	37603372	13701194	74	17709											
DRP2	1821	genome.wustl.edu	37	X	100503565	100503565	+	Missense_Mutation	SNP	C	C	T	rs190868473		TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chrX:100503565C>T	ENST00000395209.3	+	14	2044	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	DRP2_ENST00000402866.1_Missense_Mutation_p.T506M|DRP2_ENST00000538510.1_Missense_Mutation_p.T506M|DRP2_ENST00000541709.1_Missense_Mutation_p.T428M	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	506					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TTGTGTGGCACGGAAGTGAAG	0.458													C|||	2	0.000529801	0	0.0014	3775	,	,		16344	0		0.001	False		,,,				2504	0															0			X						C	MET/THR,MET/THR	0,3835		0,0,0,1632,571	222	202	209		1283,1517	5	1	X		209	2,6726		0,1,1,2427,1871	no	missense,missense	DRP2	NM_001171184.1,NM_001939.2	81,81	0,1,1,4059,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	possibly-damaging,possibly-damaging	428/880,506/958	100503565	2,10561	2203	4300	6503	100390221	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1517C>T	X.37:g.100503565C>T	ENSP00000378635:p.Thr506Met		100390221	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.60	3.168979	0.57584	0.0	2.97E-4	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.05786	3.5;3.5;3.39;3.5	4.97	4.97	0.65823	.	0.050587	0.85682	D	0.000000	T	0.09247	0.0228	L	0.36672	1.1	0.33883	D	0.636434	D	0.56287	0.975	P	0.47470	0.548	T	0.10474	-1.0628	10	0.87932	D	0	-7.0022	13.1981	0.59752	0.0:0.8443:0.1557:0.0	.	506	Q13474	DRP2_HUMAN	M	506;506;428;506	ENSP00000385038:T506M;ENSP00000378635:T506M;ENSP00000444752:T428M;ENSP00000441051:T506M	ENSP00000378635:T506M	T	+	2	0	DRP2	100390221	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	4.694000	0.61760	2.046000	0.60703	0.513000	0.50165	ACG		0.458	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		T	100503565	C	T	100503565	3	4	330	1	0	0	0	0	1	0	0	0	4764	536	19	1	1563	1	DRP2	23	100503565	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09		100503565	54766995	75	17710											
ARHGAP36	158763	genome.wustl.edu	37	X	130220600	130220600	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1699-01A-01W-0633-09	TCGA-29-1699-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9db2682f-aa52-4b1f-b4bc-047084a9aac5	1aafabff-3396-4bf7-85c6-b43cd48003a0	g.chrX:130220600C>T	ENST00000276211.5	+	11	1792	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R347W|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R471W	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	483					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTGAAGCCCGGGCTGCTGT	0.512																																																0			X											96	85	89					X																	130220600		2203	4300	6503	130048281	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1447C>T	X.37:g.130220600C>T	ENSP00000276211:p.Arg483Trp		130048281	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	1.038	-0.679766	0.03353	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.12255	2.7;2.71;2.72;2.72	4.32	1.52	0.23074	.	0.865783	0.09828	N	0.750599	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37407	-0.9707	10	0.48119	T	0.1	.	4.3476	0.11139	0.0:0.4249:0.3636:0.2115	.	452;471;483	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	W	483;471;452;347	ENSP00000276211:R483W;ENSP00000359960:R471W;ENSP00000408515:R452W;ENSP00000359959:R347W	ENSP00000276211:R483W	R	+	1	2	ARHGAP36	130048281	0.016000	0.18221	0.000000	0.03702	0.079000	0.17450	0.505000	0.22642	0.178000	0.19917	-0.225000	0.12378	CGG		0.512	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		T	130220600	C	T	130220600	3	4	330	1	0	0	0	0	1	0	0	0	883	643	23	1	1485	1	ARHGAP36	23	130220600	Missense_Mutation	SNP	C	TCGA-29-1699-01A-01W-0633-09	29717035	130220600	25049960	76	17711											
CLCNKB	1188	genome.wustl.edu	37	1	16378239	16378239	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:16378239C>T	ENST00000375679.4	+	14	1443	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	CLCNKB_ENST00000375667.3_Silent_p.L275L	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	444					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGACTCTCTCTTTTATCT	0.637																																																0			1											94	95	95					1																	16378239		2203	4300	6503	16250826	SO:0001819	synonymous_variant	1188			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1332C>T	1.37:g.16378239C>T			16250826	B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	CCDS168.1																																																																																				0.637	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		T	16378239	C	T	16378239	2	4	331	1	0	0	0	0	0	0	0	1	3470	900	32	2		2	CLCNKB	1	16378239	Silent	SNP	C	TCGA-29-1701-01A-01W-0633-09		16378239	232872382	1	17712											
WASF2	10163	genome.wustl.edu	37	1	27755386	27755386	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:27755386C>T	ENST00000430629.2	-	2	230	c.15G>A	c.(13-15)acG>acA	p.T5T	WASF2_ENST00000536657.1_Silent_p.T5T	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	5					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CGATGTTCCTCGTTACTAACG	0.473																																																0			1											119	94	103					1																	27755386		2203	4300	6503	27627973	SO:0001819	synonymous_variant	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.15G>A	1.37:g.27755386C>T			27627973	B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	CCDS304.1																																																																																				0.473	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		T	27755386	C	T	27755386	2	4	331	1	0	0	0	0	0	0	0	1	17253	871	31	1		1	WASF2	1	27755386	Silent	SNP	C	TCGA-29-1701-01A-01W-0633-09	11377147	27755386	221495235	2	17713											
BAI2	576	genome.wustl.edu	37	1	32207466	32207466	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:32207466G>A	ENST00000373658.3	-	9	1861	c.1520C>T	c.(1519-1521)aCg>aTg	p.T507M	BAI2_ENST00000440175.2_Missense_Mutation_p.T149M|BAI2_ENST00000527361.1_Missense_Mutation_p.T507M|BAI2_ENST00000257070.4_Missense_Mutation_p.T507M|BAI2_ENST00000398538.1_Missense_Mutation_p.T495M|BAI2_ENST00000398556.3_Missense_Mutation_p.T455M|BAI2_ENST00000398547.1_Missense_Mutation_p.T440M|BAI2_ENST00000398542.1_Missense_Mutation_p.T440M|BAI2_ENST00000373655.2_Missense_Mutation_p.T507M	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	507	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T507M(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTAGCCCTGCGTGCCCGTGGC	0.647																																																1	Substitution - Missense(1)	large_intestine(1)	1											67	72	70					1																	32207466		2203	4299	6502	31980053	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1520C>T	1.37:g.32207466G>A	ENSP00000362762:p.Thr507Met		31980053	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980582	0.34942	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.95	3.79	0.43588	.	0.858176	0.09722	N	0.764283	T	0.33962	0.0881	N	0.16368	0.405	0.09310	N	1	B;B;B;P;B;P;B	0.36837	0.344;0.295;0.295;0.571;0.344;0.473;0.344	B;B;B;B;B;B;B	0.41917	0.263;0.171;0.171;0.37;0.263;0.171;0.263	T	0.18178	-1.0345	10	0.52906	T	0.07	.	4.402	0.11392	0.3137:0.0:0.6863:0.0	.	440;507;495;149;440;507;507	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	M	455;440;507;507;440;507;507;149;495;445;486	ENSP00000381564:T455M;ENSP00000381555:T440M;ENSP00000362762:T507M;ENSP00000362759:T507M;ENSP00000381550:T440M;ENSP00000257070:T507M;ENSP00000435397:T507M;ENSP00000391071:T149M;ENSP00000381548:T495M;ENSP00000410921:T445M;ENSP00000437219:T486M	ENSP00000257070:T507M	T	-	2	0	BAI2	31980053	0.158000	0.22850	0.058000	0.19502	0.925000	0.55904	3.610000	0.54125	2.457000	0.83068	0.561000	0.74099	ACG		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		A	32207466	G	A	32207466	3	1	331	1	0	0	0	0	1	0	0	0	1299	1145	40	1	3337	1	BAI2	1	32207466	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	4452080	32207466	217043155	3	17714											
CHRNB2	1141	genome.wustl.edu	37	1	154541961	154541961	+	Missense_Mutation	SNP	G	G	A	rs199919525		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:154541961G>A	ENST00000368476.3	+	2	352	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	30					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GGATACAGAGGAGCGGCTGGT	0.597																																																0			1											46	43	44					1																	154541961		2203	4300	6503	152808585	SO:0001583	missense	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.88G>A	1.37:g.154541961G>A	ENSP00000357461:p.Glu30Lys		152808585	Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096243	0.56075	.	.	ENSG00000160716	ENST00000368476	T	0.77229	-1.08	4.54	4.54	0.55810	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	L	0.45137	1.4	0.58432	D	0.999998	D	0.59767	0.986	P	0.59012	0.85	T	0.70920	-0.4741	10	0.02654	T	1	.	17.116	0.86689	0.0:0.0:1.0:0.0	.	30	P17787	ACHB2_HUMAN	K	30	ENSP00000357461:E30K	ENSP00000357461:E30K	E	+	1	0	CHRNB2	152808585	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.483000	0.73617	2.356000	0.79943	0.561000	0.74099	GAG		0.597	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		A	154541961	G	A	154541961	3	1	331	1	0	0	0	0	1	0	0	0	3391	1175	41	2	94	2	CHRNB2	1	154541961	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	122334495	154541961	94708660	4	17715											
HCN3	57657	genome.wustl.edu	37	1	155254398	155254398	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:155254398C>T	ENST00000368358.3	+	4	947	c.939C>T	c.(937-939)ggC>ggT	p.G313G	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	313					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			TGTGCATTGGCTATGGGCAGC	0.587																																																0			1											91	70	78					1																	155254398		2203	4300	6503	153521022	SO:0001819	synonymous_variant	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.939C>T	1.37:g.155254398C>T			153521022	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	CCDS1108.1																																																																																				0.587	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		T	155254398	C	T	155254398	2	4	331	1	0	0	0	0	0	0	0	1	6998	784	28	2		2	HCN3	1	155254398	Silent	SNP	C	TCGA-29-1701-01A-01W-0633-09	712437	155254398	93996223	5	17716											
C1orf186	440712	genome.wustl.edu	37	1	206243218	206243218	+	Missense_Mutation	SNP	G	G	A	rs531574406		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:206243218G>A	ENST00000331555.5	-	3	682	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	15						integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGACACCACCGCGATCACTAA	0.527													G|||	1	0.000199681	0	0	5008	,	,		21295	0.001		0	False		,,,				2504	0															0			1											123	109	113					1																	206243218		2203	4300	6503	204409841	SO:0001583	missense	440712			AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.44C>T	1.37:g.206243218G>A	ENSP00000356093:p.Ala15Val		204409841		Missense_Mutation	SNP	ENST00000331555.5	37	CCDS30995.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099969	0.56183	.	.	ENSG00000196533	ENST00000331555	.	.	.	3.06	3.06	0.35304	.	0.000000	0.38272	N	0.001753	T	0.49287	0.1548	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.23261	-1.0193	9	0.87932	D	0	-9.316	9.8622	0.41120	0.0:0.0:1.0:0.0	.	15	Q6ZWK4	CA186_HUMAN	V	15	.	ENSP00000356093:A15V	A	-	2	0	C1orf186	204409841	0.127000	0.22367	0.033000	0.17914	0.028000	0.11728	3.138000	0.50570	2.028000	0.59812	0.561000	0.74099	GCG		0.527	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		A	206243218	G	A	206243218	3	1	331	1	0	0	0	0	1	0	0	0	2020	1087	38	1	490	1	C1orf186	1	206243218	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	50988820	206243218	43007403	6	17717											
LRPPRC	10128	genome.wustl.edu	37	2	44116886	44116886	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr2:44116886A>C	ENST00000260665.7	-	37	4172	c.4115T>G	c.(4114-4116)tTc>tGc	p.F1372C	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1372	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGTTCAATGAAAGGGACAGG	0.373																																																0			2											87	86	87					2																	44116886		2203	4300	6503	43970390	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.4115T>G	2.37:g.44116886A>C	ENSP00000260665:p.Phe1372Cys		43970390	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302977	0.60195	.	.	ENSG00000138095	ENST00000260665	T	0.76839	-1.05	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.87418	0.6172	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88628	0.3167	10	0.72032	D	0.01	-15.0129	16.0246	0.80532	1.0:0.0:0.0:0.0	.	1372	P42704	LPPRC_HUMAN	C	1372	ENSP00000260665:F1372C	ENSP00000260665:F1372C	F	-	2	0	LRPPRC	43970390	1.000000	0.71417	0.886000	0.34754	0.404000	0.30871	7.425000	0.80255	2.175000	0.68902	0.533000	0.62120	TTC		0.373	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		C	44116886	A	C	44116886	3	2	331	1	0	0	0	0	1	0	0	0	8965	246	9	5	77	5	LRPPRC	2	44116886	Missense_Mutation	SNP	A	TCGA-29-1701-01A-01W-0633-09		44116886	199082487	7	17718											
LRRTM4	80059	genome.wustl.edu	37	2	77746301	77746301	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr2:77746301G>T	ENST00000409093.1	-	3	1030	c.694C>A	c.(694-696)Cgc>Agc	p.R232S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.R233S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R233S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R232S|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R232S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	232					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.R232C(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAAATTGAGCGGAGGTTGAAG	0.433																																																1	Substitution - Missense(1)	pancreas(1)	2											59	58	58					2																	77746301		1882	4102	5984	77599809	SO:0001583	missense	80059			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.694C>A	2.37:g.77746301G>T	ENSP00000386357:p.Arg232Ser		77599809	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495747	0.64186	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	L	0.44542	1.39	0.80722	D	1	D;D;D	0.58268	0.982;0.977;0.982	P;P;P	0.61132	0.884;0.815;0.884	T	0.63005	-0.6733	10	0.51188	T	0.08	.	18.4529	0.90710	0.0:0.0:1.0:0.0	.	233;232;232	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	233;232;232;232;233	ENSP00000387228:R233S;ENSP00000387297:R232S;ENSP00000386357:R232S;ENSP00000386236:R232S;ENSP00000386286:R233S	ENSP00000386236:R232S	R	-	1	0	LRRTM4	77599809	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.625000	0.74248	2.689000	0.91719	0.655000	0.94253	CGC		0.433	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		T	77746301	G	T	77746301	3	4	331	1	0	0	0	0	1	0	0	0	9042	1116	39	3	1092	3	LRRTM4	2	77746301	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	33629415	77746301	165453072	8	17719											
ARPP21	10777	genome.wustl.edu	37	3	35785377	35785377	+	Missense_Mutation	SNP	C	C	T	rs139862817	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr3:35785377C>T	ENST00000187397.4	+	18	2408	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	ARPP21_ENST00000417925.1_Missense_Mutation_p.T652M|ARPP21_ENST00000458225.1_Missense_Mutation_p.T652M|ARPP21_ENST00000444190.1_Missense_Mutation_p.T632M|ARPP21_ENST00000337271.5_Missense_Mutation_p.T632M|MIR128-2_ENST00000384893.1_RNA	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	651	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.T651M(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCTCAACCACGCAACAGTAC	0.478																																																1	Substitution - Missense(1)	lung(1)	3						C	MET/THR	0,4406		0,0,2203	125	119	121		1952	5.8	0.8	3	dbSNP_134	121	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ARPP21	NM_016300.4	81	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	651/813	35785377	5,13001	2203	4300	6503	35760381	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1952C>T	3.37:g.35785377C>T	ENSP00000187397:p.Thr651Met		35760381	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848328	0.71603	0.0	5.81E-4	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.82	5.82	0.92795	.	0.460434	0.22270	N	0.062267	T	0.68393	0.2996	L	0.60455	1.87	0.25330	N	0.989049	D;D;P;D	0.89917	0.977;1.0;0.872;0.977	P;D;B;P	0.64595	0.595;0.927;0.391;0.595	T	0.61372	-0.7076	10	0.39692	T	0.17	-6.1246	18.2794	0.90092	0.0:1.0:0.0:0.0	.	652;174;651;632	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	M	652;632;632;651;652	ENSP00000414351:T652M;ENSP00000337792:T632M;ENSP00000405276:T632M;ENSP00000187397:T651M;ENSP00000412326:T652M	ENSP00000187397:T651M	T	+	2	0	ARPP21	35760381	1.000000	0.71417	0.759000	0.31340	0.919000	0.55068	4.747000	0.62141	2.740000	0.93945	0.655000	0.94253	ACG		0.478	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		T	35785377	C	T	35785377	3	4	331	1	0	0	0	0	1	0	0	0	978	536	19	1	2027	1	ARPP21	3	35785377	Missense_Mutation	SNP	C	TCGA-29-1701-01A-01W-0633-09		35785377	162237053	9	17720											
C3orf79	152118	genome.wustl.edu	37	3	153202469	153202469	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr3:153202469C>A	ENST00000446603.2	+	1	186	c.124C>A	c.(124-126)Ctt>Att	p.L42I	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	42								p.L42I(1)		endometrium(1)|large_intestine(3)	4						TCAGTGTTTGCTTTACAAGGT	0.418																																																1	Substitution - Missense(1)	large_intestine(1)	3											278	263	268					3																	153202469		1905	4130	6035	154685159	SO:0001583	missense	152118			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.124C>A	3.37:g.153202469C>A	ENSP00000389475:p.Leu42Ile		154685159		Missense_Mutation	SNP	ENST00000446603.2	37	CCDS46937.1	.	.	.	.	.	.	.	.	.	.	C	0.644	-0.812090	0.02798	.	.	ENSG00000237787	ENST00000446603	.	.	.	3.66	1.87	0.25490	.	.	.	.	.	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.11251	-1.0595	8	0.87932	D	0	.	5.6237	0.17470	0.0:0.7537:0.0:0.2463	.	42	P0CE67	CC079_HUMAN	I	42	.	ENSP00000389475:L42I	L	+	1	0	C3orf79	154685159	0.020000	0.18652	0.068000	0.19968	0.343000	0.28985	0.574000	0.23714	0.535000	0.28714	-0.136000	0.14681	CTT		0.418	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337		A	153202469	C	A	153202469	3	1	331	1	0	0	0	0	1	0	0	0	2246	797	28	3	126	3	C3orf79	3	153202469	Missense_Mutation	SNP	C	TCGA-29-1701-01A-01W-0633-09	117417092	153202469	44819961	10	17721											
WDFY3	23001	genome.wustl.edu	37	4	85742327	85742327	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr4:85742327T>C	ENST00000295888.4	-	11	1908	c.1501A>G	c.(1501-1503)Agg>Ggg	p.R501G	WDFY3_ENST00000322366.6_Missense_Mutation_p.R501G	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	501					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCAACCTCCCTGAACACGTCT	0.368																																																0			4											81	82	82					4																	85742327		2203	4299	6502	85961351	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1501A>G	4.37:g.85742327T>C	ENSP00000295888:p.Arg501Gly		85961351	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.402792	0.62288	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.51817	0.69;0.69	5.81	4.62	0.57501	Armadillo-like helical (1);	0.043951	0.85682	D	0.000000	T	0.61502	0.2352	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.54047	0.964;0.964	P;P	0.53549	0.729;0.535	T	0.65857	-0.6066	10	0.62326	D	0.03	.	13.1252	0.59351	0.0:0.0:0.1338:0.8662	.	501;501	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	G	501	ENSP00000318466:R501G;ENSP00000295888:R501G	ENSP00000295888:R501G	R	-	1	2	WDFY3	85961351	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.198000	0.51035	1.007000	0.39238	-0.438000	0.05819	AGG		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		C	85742327	T	C	85742327	3	2	331	1	0	0	0	0	1	0	0	0	17270	1579	55	4	9354	4	WDFY3	4	85742327	Missense_Mutation	SNP	T	TCGA-29-1701-01A-01W-0633-09		85742327	105411949	11	17722											
TLL1	7092	genome.wustl.edu	37	4	166924563	166924563	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr4:166924563G>C	ENST00000061240.2	+	6	1300	c.653G>C	c.(652-654)cGg>cCg	p.R218P	TLL1_ENST00000513213.1_Missense_Mutation_p.R218P|TLL1_ENST00000507499.1_Missense_Mutation_p.R218P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	218	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TATGTAGGTCGGCGAGGAAAT	0.428																																																0			4											128	116	120					4																	166924563		2203	4300	6503	167144013	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.653G>C	4.37:g.166924563G>C	ENSP00000061240:p.Arg218Pro		167144013	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157009	0.78114	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.66995	-0.24;-0.24;-0.24	5.19	5.19	0.71726	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.88644	0.6492	H	0.98612	4.28	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.63283	0.913;0.784	D	0.93112	0.6517	10	0.87932	D	0	.	19.0827	0.93188	0.0:0.0:1.0:0.0	.	218;218	E9PD25;O43897	.;TLL1_HUMAN	P	218	ENSP00000061240:R218P;ENSP00000426082:R218P;ENSP00000422937:R218P	ENSP00000061240:R218P	R	+	2	0	TLL1	167144013	1.000000	0.71417	0.998000	0.56505	0.406000	0.30931	6.720000	0.74723	2.576000	0.86940	0.557000	0.71058	CGG		0.428	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			C	166924563	G	C	166924563	3	2	331	1	0	0	0	0	1	0	0	0	15945	1116	39	3	675	3	TLL1	4	166924563	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	81182236	166924563	24229713	12	17723											
HMGCR	3156	genome.wustl.edu	37	5	74647395	74647395	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr5:74647395G>A	ENST00000287936.4	+	11	1492	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	HMGCR_ENST00000343975.5_Missense_Mutation_p.E446K|HMGCR_ENST00000511206.1_Missense_Mutation_p.E446K	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	446	Linker.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCGGCCTAATGAAGAATGTCT	0.413																																																0			5											96	90	92					5																	74647395		2203	4300	6503	74683151	SO:0001583	missense	3156				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1336G>A	5.37:g.74647395G>A	ENSP00000287936:p.Glu446Lys		74683151	B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446232	0.63178	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.42131	0.98;0.98;0.98	5.74	5.74	0.90152	Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.238543	0.49305	D	0.000144	T	0.40694	0.1127	L	0.42245	1.32	0.80722	D	1	B;B;B	0.18610	0.006;0.029;0.006	B;B;B	0.19391	0.003;0.025;0.003	T	0.15235	-1.0444	10	0.51188	T	0.08	-13.4121	18.0985	0.89498	0.0:0.0:1.0:0.0	.	446;446;446	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	K	446;377;446;446	ENSP00000426745:E446K;ENSP00000287936:E446K;ENSP00000340816:E446K	ENSP00000287936:E446K	E	+	1	0	HMGCR	74683151	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	7.584000	0.82572	2.716000	0.92895	0.561000	0.74099	GAA		0.413	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			A	74647395	G	A	74647395	3	1	331	1	0	0	0	0	1	0	0	0	7231	1291	45	2	1374	2	HMGCR	5	74647395	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09		74647395	106267865	13	17724											
PCDHA13	56136	genome.wustl.edu	37	5	140262113	140262113	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr5:140262113A>G	ENST00000289272.2	+	1	260	c.260A>G	c.(259-261)aAt>aGt	p.N87S	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.N87S|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTTGTGAATTCTCGGATC	0.602																																					Melanoma(147;1739 1852 5500 27947 37288)											0			5											110	122	118					5																	140262113		2203	4297	6500	140242297	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.260A>G	5.37:g.140262113A>G	ENSP00000289272:p.Asn87Ser		140242297	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977903	0.53720	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.27720	1.65;1.65	5.58	5.58	0.84498	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33585	0.0868	L	0.43598	1.365	0.23962	N	0.996335	P;P;P	0.46395	0.877;0.779;0.834	B;P;B	0.44623	0.136;0.455;0.146	T	0.18713	-1.0328	9	0.46703	T	0.11	.	14.7278	0.69357	1.0:0.0:0.0:0.0	.	87;87;87	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	87	ENSP00000386821:N87S;ENSP00000289272:N87S	ENSP00000289272:N87S	N	+	2	0	PCDHA13	140242297	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.841000	0.27613	2.118000	0.64928	0.459000	0.35465	AAT		0.602	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		G	140262113	A	G	140262113	3	3	331	1	0	0	0	0	1	0	0	0	11523	101	4	4	262	4	PCDHA13	5	140262113	Missense_Mutation	SNP	A	TCGA-29-1701-01A-01W-0633-09	65614718	140262113	40653147	14	17725											
GFOD1	54438	genome.wustl.edu	37	6	13365847	13365847	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:13365847C>G	ENST00000379287.3	-	2	965	c.301G>C	c.(301-303)Gct>Cct	p.A101P	GFOD1_ENST00000379284.1_5'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	101						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATGCGGAAAGCGTCCAGCGGC	0.657																																																0			6											61	62	62					6																	13365847		2202	4293	6495	13473826	SO:0001583	missense	54438			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.301G>C	6.37:g.13365847C>G	ENSP00000368589:p.Ala101Pro		13473826	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406537	0.83230	.	.	ENSG00000145990	ENST00000379287	T	0.32988	1.43	5.2	4.31	0.51392	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.057224	0.64402	D	0.000001	T	0.54822	0.1882	M	0.91038	3.17	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.68659	-0.5350	10	0.87932	D	0	-13.1758	14.5872	0.68335	0.0:0.8531:0.1469:0.0	.	101	Q9NXC2	GFOD1_HUMAN	P	101	ENSP00000368589:A101P	ENSP00000368589:A101P	A	-	1	0	GFOD1	13473826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.791000	0.85805	1.126000	0.42016	0.650000	0.86243	GCT		0.657	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		G	13365847	C	G	13365847	3	3	331	1	0	0	0	0	1	0	0	0	6343	768	27	3	875	3	GFOD1	6	13365847	Missense_Mutation	SNP	C	TCGA-29-1701-01A-01W-0633-09		13365847	157749220	15	17726											
NHLRC1	378884	genome.wustl.edu	37	6	18122526	18122526	+	Silent	SNP	A	A	G	rs115931931	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:18122526A>G	ENST00000340650.3	-	1	325	c.312T>C	c.(310-312)caT>caC	p.H104H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	104					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGCGGCGCGATGGGCGGCCG	0.726													G|||	580	0.115815	0.2277	0.1138	5008	,	,		13206	0.0218		0.0905	False		,,,				2504	0.089															0			6						G		697,3599		63,571,1514	7	9	9		312	-4.7	0	6	dbSNP_132	9	658,7728		34,590,3569	no	coding-synonymous	NHLRC1	NM_198586.2		97,1161,5083	GG,GA,AA		7.8464,16.2244,10.6844		104/396	18122526	1355,11327	2148	4193	6341	18230505	SO:0001819	synonymous_variant	378884			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"epilepsy, progressive myoclonus type 2B"	608072	"NHL repeat containing 1"			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.312T>C	6.37:g.18122526A>G			18230505	Q3SYB1|Q5VUK7|Q6IMH1	Silent	SNP	ENST00000340650.3	37	CCDS4542.1																																																																																				0.726	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			G	18122526	A	G	18122526	2	3	331	1	0	0	0	0	0	0	0	1	10405	330	12	4		4	NHLRC1	6	18122526	Silent	SNP	A	TCGA-29-1701-01A-01W-0633-09	4756679	18122526	152992541	16	17727											
LY6G6F	259215	genome.wustl.edu	37	6	31678362	31678362	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:31678362C>T	ENST00000375832.4	+	6	910	c.888C>T	c.(886-888)ccC>ccT	p.P296P	LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CCCACAAGCCCAGGTGATTTT	0.562																																																0			6											143	129	134					6																	31678362		2203	4300	6503	31786341	SO:0001819	synonymous_variant	259215				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.888C>T	6.37:g.31678362C>T			31786341	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Silent	SNP	ENST00000375832.4	37	CCDS34403.1																																																																																				0.562	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		T	31678362	C	T	31678362	2	4	331	1	0	0	0	0	0	0	0	1	9096	581	21	2		2	LY6G6F	6	31678362	Silent	SNP	C	TCGA-29-1701-01A-01W-0633-09	13555836	31678362	139436705	17	17728											
SYNGAP1	8831	genome.wustl.edu	37	6	33411300	33411300	+	Missense_Mutation	SNP	G	G	A	rs145472959		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:33411300G>A	ENST00000418600.2	+	15	3072	c.2971G>A	c.(2971-2973)Ggg>Agg	p.G991R	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.G991R|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.G932R	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	991			G -> R. {ECO:0000269|PubMed:21237447}.		dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCTCTCTTCCGGGGTCCCCAA	0.597																																																0			6						G	ARG/GLY	0,4406		0,0,2203	164	174	171		2971	3.2	0.9	6	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYNGAP1	NM_006772.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	991/1344	33411300	1,13005	2203	4300	6503	33519278	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2971G>A	6.37:g.33411300G>A	ENSP00000403636:p.Gly991Arg		33519278	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604269	0.28534	0.0	1.16E-4	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17370	2.28;2.37;2.36	4.1	3.21	0.36854	.	0.692797	0.13603	N	0.375734	T	0.13884	0.0336	L	0.42245	1.32	0.38032	D	0.935204	D;D;D	0.58970	0.984;0.98;0.98	P;P;P	0.55260	0.772;0.662;0.662	T	0.03051	-1.1078	10	0.54805	T	0.06	.	8.8698	0.35309	0.0:0.0:0.7768:0.2232	.	991;991;991	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	R	991;991;977;932	ENSP00000293748:G991R;ENSP00000403636:G991R;ENSP00000412475:G932R	ENSP00000293748:G991R	G	+	1	0	SYNGAP1	33519278	1.000000	0.71417	0.875000	0.34327	0.419000	0.31324	2.636000	0.46545	0.920000	0.36970	0.491000	0.48974	GGG		0.597	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		A	33411300	G	A	33411300	3	1	331	1	0	0	0	0	1	0	0	0	15447	1116	39	1	3029	1	SYNGAP1	6	33411300	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	1732938	33411300	137703767	18	17729											
BTBD9	114781	genome.wustl.edu	37	6	38561994	38561994	+	Missense_Mutation	SNP	G	G	A	rs150015110		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:38561994G>A	ENST00000481247.1	-	3	446	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	BTBD9_ENST00000419706.2_Missense_Mutation_p.R40W|BTBD9_ENST00000403056.1_Missense_Mutation_p.R99W|BTBD9_ENST00000314100.6_Missense_Mutation_p.R31W|BTBD9_ENST00000408958.1_Missense_Mutation_p.R31W	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AGCGTTGCCCGCCCAGTGTAG	0.473													G|||	1	0.000199681	0	0	5008	,	,		18278	0.001		0	False		,,,				2504	0															0			6											145	155	152					6																	38561994		2114	4261	6375	38669972	SO:0001583	missense	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.295C>T	6.37:g.38561994G>A	ENSP00000418751:p.Arg99Trp		38669972	Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	CCDS47418.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.2	4.612032	0.87258	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958;ENST00000497373	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.45	4.56	0.56223	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.947;0.996	T	0.79799	-0.1651	10	0.72032	D	0.01	.	15.7299	0.77792	0.0:0.0:0.8622:0.1378	.	40;99	Q494V9;Q96Q07	.;BTBD9_HUMAN	W	31;99;40;99;31;31	ENSP00000323408:R31W;ENSP00000418751:R99W;ENSP00000415365:R40W;ENSP00000386121:R99W;ENSP00000386211:R31W;ENSP00000418201:R31W	ENSP00000323408:R31W	R	-	1	2	BTBD9	38669972	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.751000	0.98889	1.394000	0.46624	0.563000	0.77884	CGG		0.473	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		A	38561994	G	A	38561994	3	1	331	1	0	0	0	0	1	0	0	0	1548	1086	38	1	1670	1	BTBD9	6	38561994	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	5150694	38561994	132553073	19	17730											
DST	667	genome.wustl.edu	37	6	56481002	56481002	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:56481002C>G	ENST00000370765.6	-	24	7370	c.7263G>C	c.(7261-7263)caG>caC	p.Q2421H	DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1728	Asp-rich.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAGGCCTTCCTGATACTTTT	0.428																																																0			6											97	88	91					6																	56481002		2203	4300	6503	56588961	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7263G>C	6.37:g.56481002C>G	ENSP00000359801:p.Gln2421His		56588961	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944725	0.34283	.	.	ENSG00000151914	ENST00000370765	T	0.68331	-0.32	5.72	1.74	0.24563	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.09310	N	0.999999	B	0.11235	0.004	B	0.12156	0.007	T	0.05920	-1.0856	7	0.59425	D	0.04	.	6.0051	0.19541	0.0:0.5089:0.2307:0.2603	.	2421	Q03001-3	.	H	2421	ENSP00000359801:Q2421H	ENSP00000359801:Q2421H	Q	-	3	2	DST	56588961	0.998000	0.40836	0.997000	0.53966	0.804000	0.45430	0.556000	0.23438	0.026000	0.15269	0.650000	0.86243	CAG		0.428	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		G	56481002	C	G	56481002	3	3	331	1	0	0	0	0	1	0	0	0	4783	680	24	3	13136	3	DST	6	56481002	Missense_Mutation	SNP	C	TCGA-29-1701-01A-01W-0633-09	17919008	56481002	114634065	20	17731											
ARHGEF10	9639	genome.wustl.edu	37	8	1882010	1882010	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr8:1882010G>A	ENST00000398564.1	+	26	3199	c.3199G>A	c.(3199-3201)Gtc>Atc	p.V1067I	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.V1038I|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.V1042I|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.V1004I|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.V1066I			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1067					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAAGTTAGGCGTCCTACCAGT	0.438																																																0			8											170	160	163					8																	1882010		2203	4300	6503	1869417	SO:0001583	missense	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3199G>A	8.37:g.1882010G>A	ENSP00000381571:p.Val1067Ile		1869417	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	G	13.58	2.279875	0.40294	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.11	4.24	0.50183	.	0.059787	0.64402	N	0.000003	T	0.54854	0.1884	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.83275	0.996;0.786	T	0.56275	-0.8006	10	0.38643	T	0.18	-43.1892	13.6189	0.62126	0.0756:0.0:0.9244:0.0	.	1004;1042	O15013-7;O15013-5	.;.	I	1042;1004;1066;1067;1038;686	ENSP00000340297:V1042I;ENSP00000427909:V1004I;ENSP00000431012:V1066I;ENSP00000381571:V1067I;ENSP00000262112:V1038I;ENSP00000427768:V686I	ENSP00000262112:V1038I	V	+	1	0	ARHGEF10	1869417	1.000000	0.71417	0.332000	0.25469	0.022000	0.10575	6.387000	0.73191	1.267000	0.44247	0.655000	0.94253	GTC		0.438	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				A	1882010	G	A	1882010	3	1	331	1	0	0	0	0	1	0	0	0	894	1145	40	1	3222	1	ARHGEF10	8	1882010	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09		1882010	144482012	21	17732											
PI15	51050	genome.wustl.edu	37	8	75737573	75737573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr8:75737573C>A	ENST00000260113.2	+	2	268	c.89C>A	c.(88-90)tCa>tAa	p.S30*	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Nonsense_Mutation_p.S30*|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	30						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TCCACTGACTCATCCCCGCCA	0.493																																																0			8											158	151	153					8																	75737573		2203	4300	6503	75900128	SO:0001587	stop_gained	51050			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.89C>A	8.37:g.75737573C>A	ENSP00000260113:p.Ser30*		75900128	Q68CY1	Nonsense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	39	7.620620	0.98393	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	.	.	.	4.77	4.77	0.60923	.	0.545793	0.18229	N	0.147637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	5.923	0.19093	0.0:0.7732:0.0:0.2268	.	.	.	.	X	30	.	ENSP00000260113:S30X	S	+	2	0	PI15	75900128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.341000	0.59335	2.652000	0.90054	0.561000	0.74099	TCA		0.493	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		A	75737573	C	A	75737573	4	1	331	1	0	0	0	0	0	1	0	0	11868	838	29	3	91	3	PI15	8	75737573	Nonsense_Mutation	SNP	C	TCGA-29-1701-01A-01W-0633-09	73855563	75737573	70626449	22	17733											
CSMD3	114788	genome.wustl.edu	37	8	113812435	113812435	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr8:113812435G>C	ENST00000297405.5	-	13	2172	c.1928C>G	c.(1927-1929)aCg>aGg	p.T643R	CSMD3_ENST00000455883.2_Missense_Mutation_p.T539R|CSMD3_ENST00000352409.3_Missense_Mutation_p.T643R|CSMD3_ENST00000343508.3_Missense_Mutation_p.T603R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	643	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T643M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTTCGTCCGTTTGAAGGTG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	8											146	129	134					8																	113812435		2203	4300	6503	113881611	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1928C>G	8.37:g.113812435G>C	ENSP00000297405:p.Thr643Arg		113881611	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789402	0.90367	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.83	5.83	0.93111	CUB (5);	0.082034	0.51477	D	0.000100	T	0.65863	0.2732	M	0.85777	2.775	0.44595	D	0.997565	D;D;D	0.65815	0.979;0.968;0.995	D;D;P	0.66847	0.912;0.947;0.905	T	0.67461	-0.5665	10	0.52906	T	0.07	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	539;643;603	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	603;643;539;643	ENSP00000345799:T603R;ENSP00000297405:T643R;ENSP00000412263:T539R;ENSP00000343124:T643R	ENSP00000297405:T643R	T	-	2	0	CSMD3	113881611	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.643000	0.98464	2.765000	0.95021	0.555000	0.69702	ACG		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113812435	G	C	113812435	3	2	331	1	0	0	0	0	1	0	0	0	3946	1145	40	3	9431	3	CSMD3	8	113812435	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	38074862	113812435	32551587	23	17734											
SCRIB	23513	genome.wustl.edu	37	8	144891065	144891066	+	Frame_Shift_Ins	INS	-	-	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr8:144891065_144891066insA	ENST00000320476.3	-	15	1834_1835	c.1828_1829insT	c.(1828-1830)tacfs	p.Y610fs	SCRIB_ENST00000377533.3_Frame_Shift_Ins_p.Y529fs|SCRIB_ENST00000356994.2_Frame_Shift_Ins_p.Y610fs	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	610	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTGCTTTTTGTAGTGAGGTGTG	0.673																																					Pancreas(51;966 1133 10533 14576 29674)											0			8																																								144963054	SO:0001589	frameshift_variant	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1829dupT	8.37:g.144891066_144891066dupA	ENSP00000322938:p.Tyr610fs		144963053	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Frame_Shift_Ins	INS	ENST00000320476.3	37	CCDS6411.1																																																																																				0.673	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		A	144891066	-	A	144891065	7	5	331	1	0	1	1	0	0	0	0	0	13940	1638	57	0	3230	0	SCRIB	8	144891065	Frame_Shift_Ins	INS	-	TCGA-29-1701-01A-01W-0633-09	31078630	144891065	1472957	24	17735											
CYLC2	1539	genome.wustl.edu	37	9	105767266	105767266	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr9:105767266G>T	ENST00000374798.3	+	5	423	c.353G>T	c.(352-354)gGt>gTt	p.G118V	CYLC2_ENST00000487798.1_Missense_Mutation_p.G118V	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	118	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GGTAAGAAAGGTGAAGACAAG	0.294																																																0			9											51	53	52					9																	105767266		2200	4296	6496	104807087	SO:0001583	missense	1539			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.353G>T	9.37:g.105767266G>T	ENSP00000420256:p.Gly118Val		104807087	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	g	0.943	-0.708984	0.03230	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15256	2.44;2.44	3.36	-6.72	0.01755	.	1.865220	0.02997	N	0.147673	T	0.04770	0.0129	N	0.02011	-0.69	0.09310	N	1	B	0.32160	0.358	B	0.30495	0.116	T	0.19257	-1.0311	10	0.19590	T	0.45	7.0246	2.5295	0.04699	0.521:0.2302:0.1336:0.1151	.	118	Q14093	CYLC2_HUMAN	V	118	ENSP00000420256:G118V;ENSP00000417674:G118V	ENSP00000420256:G118V	G	+	2	0	CYLC2	104807087	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-5.632000	0.00108	-2.488000	0.00518	-1.411000	0.01122	GGT		0.294	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		T	105767266	G	T	105767266	3	4	331	1	0	0	0	0	1	0	0	0	4142	1261	44	3	371	3	CYLC2	9	105767266	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09		105767266	35446165	25	17736											
KIAA1958	158405	genome.wustl.edu	37	9	115421782	115421782	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr9:115421782C>T	ENST00000337530.6	+	4	1880	c.1584C>T	c.(1582-1584)cgC>cgT	p.R528R	KIAA1958_ENST00000536272.1_Silent_p.R556R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	528										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CGCGTTCTCGCAACATCGTCT	0.567																																																0			9											62	53	56					9																	115421782		2203	4300	6503	114461603	SO:0001819	synonymous_variant	158405			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1584C>T	9.37:g.115421782C>T			114461603	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	CCDS35108.1																																																																																				0.567	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		T	115421782	C	T	115421782	2	4	331	1	0	0	0	0	0	0	0	1	8264	697	25	2		2	KIAA1958	9	115421782	Silent	SNP	C	TCGA-29-1701-01A-01W-0633-09	9654516	115421782	25791649	26	17737											
MLLT10	8028	genome.wustl.edu	37	10	22022934	22022934	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr10:22022934A>G	ENST00000307729.7	+	20	2912	c.2734A>G	c.(2734-2736)Att>Gtt	p.I912V	MLLT10_ENST00000377072.3_Missense_Mutation_p.I928V|MLLT10_ENST00000377059.3_Missense_Mutation_p.I912V|MLLT10_ENST00000446906.2_Missense_Mutation_p.I912V			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	912					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATTAATGGCATTGTAGGAGC	0.498			T	"MLL, PICALM, CDK6"	AL																																		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0			10											105	92	96					10																	22022934		2203	4300	6503	22062940	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2734A>G	10.37:g.22022934A>G	ENSP00000307411:p.Ile912Val		22062940	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815630	0.50527	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.14893	2.47;2.49;2.49;2.49	4.55	4.55	0.56014	.	0.178156	0.48767	D	0.000174	T	0.13072	0.0317	L	0.44542	1.39	0.48511	D	0.999665	B;B;P;B	0.41947	0.383;0.07;0.766;0.162	B;B;B;B	0.36766	0.106;0.023;0.232;0.034	T	0.08411	-1.0723	10	0.11794	T	0.64	.	12.4706	0.55785	1.0:0.0:0.0:0.0	.	607;912;912;928	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	V	928;912;912;747;912	ENSP00000366272:I928V;ENSP00000401406:I912V;ENSP00000307411:I912V;ENSP00000366258:I912V	ENSP00000307411:I912V	I	+	1	0	MLLT10	22062940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.644000	0.67902	1.686000	0.51046	0.455000	0.32223	ATT		0.498	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			G	22022934	A	G	22022934	3	3	331	1	0	0	0	0	1	0	0	0	9626	217	8	4	2860	4	MLLT10	10	22022934	Missense_Mutation	SNP	A	TCGA-29-1701-01A-01W-0633-09		22022934	113511813	27	17738											
GAD2	2572	genome.wustl.edu	37	10	26559581	26559581	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr10:26559581T>G	ENST00000376261.3	+	10	1491	c.988T>G	c.(988-990)Ttc>Gtc	p.F330V	GAD2_ENST00000259271.3_Missense_Mutation_p.F330V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	330					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTTGTTCCTTTCCTCGTGAG	0.463																																																0			10											164	158	160					10																	26559581		2203	4300	6503	26599587	SO:0001583	missense	2572			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.988T>G	10.37:g.26559581T>G	ENSP00000365437:p.Phe330Val		26599587	Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.763648	0.89932	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.40225	1.04;1.04	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	M	0.88570	2.965	0.80722	D	1	P	0.46395	0.877	P	0.60236	0.871	T	0.74512	-0.3641	10	0.72032	D	0.01	-19.0024	15.4776	0.75497	0.0:0.0:0.0:1.0	.	330	Q05329	DCE2_HUMAN	V	330	ENSP00000365437:F330V;ENSP00000259271:F330V	ENSP00000259271:F330V	F	+	1	0	GAD2	26599587	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.678000	0.61641	2.149000	0.67028	0.523000	0.50628	TTC		0.463	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		G	26559581	T	G	26559581	3	3	331	1	0	0	0	0	1	0	0	0	6180	1841	64	5	1026	5	GAD2	10	26559581	Missense_Mutation	SNP	T	TCGA-29-1701-01A-01W-0633-09	4536647	26559581	108975166	28	17739											
PRKG1	5592	genome.wustl.edu	37	10	54040667	54040667	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr10:54040667G>T	ENST00000401604.2	+	13	1671	c.1477G>T	c.(1477-1479)Gat>Tat	p.D493Y	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373980.4_Missense_Mutation_p.D508Y|PRKG1_ENST00000373975.2_Missense_Mutation_p.D211Y|PRKG1_ENST00000373985.1_Missense_Mutation_p.D481Y			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCTCATCCTAGATCACCGAGG	0.388																																																0			10											122	106	111					10																	54040667		2203	4300	6503	53710673	SO:0001583	missense	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1477G>T	10.37:g.54040667G>T	ENSP00000384200:p.Asp493Tyr		53710673	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698938	0.88830	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.11604	2.76;2.76;2.76	5.47	5.47	0.80525	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	0.47192	0.1432	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.992;0.995	T	0.62215	-0.6901	10	0.87932	D	0	-19.6257	18.9329	0.92574	0.0:0.0:1.0:0.0	.	211;508;493	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	Y	493;481;508;211;105	ENSP00000384200:D493Y;ENSP00000363097:D481Y;ENSP00000363092:D508Y	ENSP00000327642:D211Y	D	+	1	0	PRKG1	53710673	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.860000	0.99555	2.582000	0.87167	0.591000	0.81541	GAT		0.388	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	54040667	G	T	54040667	3	4	331	1	0	0	0	0	1	0	0	0	12525	942	33	3	1842	3	PRKG1	10	54040667	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	27481086	54040667	81494080	29	17740											
GANAB	23193	genome.wustl.edu	37	11	62400682	62400682	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr11:62400682T>C	ENST00000356638.3	-	7	708	c.692A>G	c.(691-693)aAa>aGa	p.K231R	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Missense_Mutation_p.K134R|GANAB_ENST00000534779.1_Missense_Mutation_p.K139R|GANAB_ENST00000346178.4_Missense_Mutation_p.K253R	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	231					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AGAGTGAGTTTTGAATGTCTC	0.527																																					Melanoma(23;1005 1074 15747 18937)											0			11											126	128	127					11																	62400682		2202	4299	6501	62157258	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.692A>G	11.37:g.62400682T>C	ENSP00000349053:p.Lys231Arg		62157258	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523755	0.44866	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88741	-2.4;-2.35;-1.97;-2.42	5.14	5.14	0.70334	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	L	0.33339	1.005	0.80722	D	1	B;B;B;B	0.31077	0.1;0.204;0.047;0.307	B;B;B;B	0.36922	0.1;0.143;0.068;0.236	T	0.83308	-0.0024	10	0.40728	T	0.16	-13.5459	12.9629	0.58468	0.0:0.0:0.0:1.0	.	117;139;231;253	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	R	253;231;139;134	ENSP00000340466:K253R;ENSP00000349053:K231R;ENSP00000435306:K139R;ENSP00000442962:K134R	ENSP00000340466:K253R	K	-	2	0	GANAB	62157258	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.884000	0.75600	2.159000	0.67721	0.455000	0.32223	AAA		0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		C	62400682	T	C	62400682	3	2	331	1	0	0	0	0	1	0	0	0	6233	1841	64	4	2214	4	GANAB	11	62400682	Missense_Mutation	SNP	T	TCGA-29-1701-01A-01W-0633-09		62400682	72605834	30	17741											
TPI1	7167	genome.wustl.edu	37	12	6979227	6979227	+	Silent	SNP	C	C	T	rs369241009		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:6979227C>T	ENST00000229270.4	+	6	1006	c.669C>T	c.(667-669)caC>caT	p.H223H	TPI1_ENST00000535434.1_Silent_p.H104H|TPI1_ENST00000488464.2_Silent_p.H104H|TPI1_ENST00000396705.5_Silent_p.H186H	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	223					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						AGGAAGTACACGAGAAGCTCC	0.522											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			12											114	113	113					12																	6979227		2203	4300	6503	6849488	SO:0001819	synonymous_variant	7167				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.669C>T	12.37:g.6979227C>T		638	6849488	B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Silent	SNP	ENST00000229270.4	37	CCDS53740.1																																																																																				0.522	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		T	6979227	C	T	6979227	2	4	331	1	0	0	0	0	0	0	0	1	16403	535	19	1		1	TPI1	12	6979227	Silent	SNP	C	TCGA-29-1701-01A-01W-0633-09		6979227	126872668	31	17742											
LRRK2	120892	genome.wustl.edu	37	12	40728833	40728833	+	Missense_Mutation	SNP	G	G	A	rs77428810	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:40728833G>A	ENST00000298910.7	+	40	5880	c.5822G>A	c.(5821-5823)cGt>cAt	p.R1941H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1941	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in PARK8). {ECO:0000269|PubMed:16272164}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCTGGGATTCGTCCCCGGATG	0.512													G|||	2	0.000399361	8e-04	0	5008	,	,		18654	0		0.001	False		,,,				2504	0															0			12	GRCh37	CM054774	LRRK2	M	rs77428810						124	114	117					12																	40728833		2203	4300	6503	39015100	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5822G>A	12.37:g.40728833G>A	ENSP00000298910:p.Arg1941His		39015100	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664198	0.29604	.	.	ENSG00000188906	ENST00000298910	T	0.66638	-0.22	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.299046	0.39834	N	0.001241	T	0.50292	0.1607	N	0.17838	0.53	0.32192	N	0.578923	B;B	0.26935	0.019;0.164	B;B	0.24701	0.023;0.055	T	0.59579	-0.7428	10	0.44086	T	0.13	.	11.4816	0.50328	0.0829:0.0:0.9171:0.0	.	1941;1941	Q17RV3;Q5S007	.;LRRK2_HUMAN	H	1941	ENSP00000298910:R1941H	ENSP00000298910:R1941H	R	+	2	0	LRRK2	39015100	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.486000	0.60286	2.245000	0.73994	0.561000	0.74099	CGT		0.512	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40728833	G	A	40728833	3	1	331	1	0	0	0	0	1	0	0	0	9033	1145	40	1	5980	1	LRRK2	12	40728833	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	33749606	40728833	93123062	32	17743											
CNTN1	1272	genome.wustl.edu	37	12	41410562	41410562	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:41410562A>G	ENST00000551295.2	+	19	2380	c.2263A>G	c.(2263-2265)Aaa>Gaa	p.K755E	CNTN1_ENST00000348761.2_Missense_Mutation_p.K744E|CNTN1_ENST00000347616.1_Missense_Mutation_p.K755E|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	755	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGAAGAATGGAAAAAAGTCAC	0.368																																																0			12											115	101	106					12																	41410562		2203	4300	6503	39696829	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2263A>G	12.37:g.41410562A>G	ENSP00000447006:p.Lys755Glu		39696829	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.535947	0.64972	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.58506	0.33;0.33;0.33	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.150141	0.64402	D	0.000017	T	0.54367	0.1854	L	0.50333	1.59	0.80722	D	1	B;B	0.32467	0.321;0.372	B;B	0.39771	0.205;0.309	T	0.49224	-0.8962	10	0.06891	T	0.86	.	16.0444	0.80711	1.0:0.0:0.0:0.0	.	744;755	Q12860-2;Q12860	.;CNTN1_HUMAN	E	755;755;744	ENSP00000447006:K755E;ENSP00000325660:K755E;ENSP00000261160:K744E	ENSP00000325660:K755E	K	+	1	0	CNTN1	39696829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.563000	0.60823	2.326000	0.78906	0.533000	0.62120	AAA		0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		G	41410562	A	G	41410562	3	3	331	1	0	0	0	0	1	0	0	0	3640	247	9	4	2333	4	CNTN1	12	41410562	Missense_Mutation	SNP	A	TCGA-29-1701-01A-01W-0633-09	681729	41410562	92441333	33	17744											
LLPH	84298	genome.wustl.edu	37	12	66522820	66522820	+	Missense_Mutation	SNP	G	G	A	rs574607020	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:66522820G>A	ENST00000266604.2	-	2	137	c.67C>T	c.(67-69)Cca>Tca	p.P23S	TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Missense_Mutation_p.P23S|RP11-745O10.2_ENST00000510317.2_RNA	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	23	Lys-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCCTCCTTTGGGGCATTCTTT	0.393																																																0			12											90	87	88					12																	66522820		2203	4297	6500	64809087	SO:0001583	missense	84298			AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"human LAPS18-like protein"		"chromosome 12 open reading frame 31"	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.67C>T	12.37:g.66522820G>A	ENSP00000266604:p.Pro23Ser		64809087	Q3B766	Missense_Mutation	SNP	ENST00000266604.2	37	CCDS8974.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298010	0.81025	.	.	ENSG00000139233	ENST00000266604;ENST00000446587	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.79816	0.4511	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82348	-0.0502	8	.	.	.	-12.6244	16.9492	0.86239	0.0:0.0:1.0:0.0	.	23	Q9BRT6	LLPH_HUMAN	S	23	.	.	P	-	1	0	LLPH	64809087	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.494000	0.90477	2.283000	0.76528	0.467000	0.42956	CCA		0.393	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401752.1	NM_032338		A	66522820	G	A	66522820	3	1	331	1	0	0	0	0	1	0	0	0	8835	1232	43	2	330	2	LLPH	12	66522820	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	25112258	66522820	67329075	34	17745											
TPCN1	53373	genome.wustl.edu	37	12	113711381	113711381	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:113711381G>A	ENST00000335509.6	+	10	1164	c.850G>A	c.(850-852)Gat>Aat	p.D284N	TPCN1_ENST00000392569.4_Missense_Mutation_p.D216N|TPCN1_ENST00000550785.1_Missense_Mutation_p.D356N|TPCN1_ENST00000541517.1_Missense_Mutation_p.D356N	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	284					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CAGTTTCCCAGATGTGATGAT	0.542																																																0			12											309	221	251					12																	113711381		2203	4300	6503	112195764	SO:0001583	missense	53373			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.850G>A	12.37:g.113711381G>A	ENSP00000335300:p.Asp284Asn		112195764	A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514107	0.96402	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.996	D	0.99445	1.0939	10	0.87932	D	0	-14.5479	19.0009	0.92834	0.0:0.0:1.0:0.0	.	284;356;284	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	N	284;356;356;216	ENSP00000335300:D284N;ENSP00000448083:D356N;ENSP00000438125:D356N;ENSP00000376350:D216N	ENSP00000335300:D284N	D	+	1	0	TPCN1	112195764	1.000000	0.71417	0.954000	0.39281	0.966000	0.64601	9.382000	0.97209	2.483000	0.83821	0.655000	0.94253	GAT		0.542	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		A	113711381	G	A	113711381	3	1	331	1	0	0	0	0	1	0	0	0	16395	942	33	2	1104	2	TPCN1	12	113711381	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09	47188561	113711381	20140514	35	17746											
TP53	7157	genome.wustl.edu	37	17	7574035	7574035	+	Splice_Site	SNP	T	T	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr17:7574035T>C	ENST00000269305.4	-	10	1183		c.e10-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site	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						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.?(10)|p.0?(8)|p.I332fs*49(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)	CCCACGGATCTGCAGCAACAG	0.507		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"	19	Unknown(10)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|liver(2)|stomach(1)|breast(1)	17											44	36	38					17																	7574035		2203	4300	6503	7514760	SO:0001630	splice_region_variant	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.994-2A>G	17.37:g.7574035T>C			7514760	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898270	0.33535	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1784	0.59641	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514760	1.000000	0.71417	0.937000	0.37676	0.131000	0.20780	6.590000	0.74085	2.061000	0.61500	0.459000	0.35465	.		0.507	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7574035	T	C	7574035	5	2	331	1	0	0	0	0	0	0	1	0	16381	1594	55	4	197	4	TP53	17	7574035	Splice_Site	SNP	T	TCGA-29-1701-01A-01W-0633-09		7574035	73621175	36	17747											
KRT31	3881	genome.wustl.edu	37	17	39553627	39553627	+	Silent	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr17:39553627G>A	ENST00000251645.2	-	1	217	c.165C>T	c.(163-165)agC>agT	p.S55S		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	55	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCTCCTTCTCGCTACCATTGA	0.622																																																0			17											88	87	88					17																	39553627		2203	4300	6503	36807153	SO:0001819	synonymous_variant	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.165C>T	17.37:g.39553627G>A			36807153	Q9UE12	Silent	SNP	ENST00000251645.2	37	CCDS11391.1																																																																																				0.622	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		A	39553627	G	A	39553627	2	1	331	1	0	0	0	0	0	0	0	1	8467	1078	38	1		1	KRT31	17	39553627	Silent	SNP	G	TCGA-29-1701-01A-01W-0633-09	31979592	39553627	41641583	37	17748											
TJP3	27134	genome.wustl.edu	37	19	3740719	3740719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr19:3740719C>T	ENST00000541714.2	+	14	2263	c.1801C>T	c.(1801-1803)Cag>Tag	p.Q601*	TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q634*|TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q620*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q610*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q565*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q615*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	601	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGACCCGACAGGGCCGCTA	0.677																																																0			19											21	23	22					19																	3740719		2201	4299	6500	3691719	SO:0001587	stop_gained	27134			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1801C>T	19.37:g.3740719C>T	ENSP00000439278:p.Gln601*		3691719	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Nonsense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	34	5.389159	0.95988	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	.	.	.	5.0	5.0	0.66597	.	0.063133	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	12.0304	0.53394	0.1728:0.8272:0.0:0.0	.	.	.	.	X	601;565;615;634	.	ENSP00000262968:Q634X	Q	+	1	0	TJP3	3691719	0.988000	0.35896	0.920000	0.36463	0.018000	0.09664	2.679000	0.46909	2.286000	0.76751	0.655000	0.94253	CAG		0.677	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			T	3740719	C	T	3740719	4	4	331	1	0	0	0	0	0	1	0	0	15931	479	17	2	1950	2	TJP3	19	3740719	Nonsense_Mutation	SNP	C	TCGA-29-1701-01A-01W-0633-09		3740719	55388264	38	17749											
SLC25A41	8570	genome.wustl.edu	37	19	6427481	6427481	+	5'Flank	SNP	G	G	T	rs191002996	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr19:6427481G>T	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.T219K	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTACTGGCCCGTCCGACGCAA	0.612													G|||	25	0.00499201	0	0.0058	5008	,	,		17711	0		0.006	False		,,,				2504	0.0153				Colon(55;593 1006 2067 9135 22980)											0			19						G	LYS/THR	4,4396		0,4,2196	21	26	24		656	4.1	0.1	19		24	57,8537		0,57,4240	yes	missense	SLC25A41	NM_173637.3	78	0,61,6436	TT,TG,GG		0.6633,0.0909,0.4694	possibly-damaging	219/371	6427481	61,12933	2200	4297	6497	6378481	SO:0001631	upstream_gene_variant	284427			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6427481G>T	Exception_encountered		6378481	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	CCDS45936.1	8	0.003663003663003663	0	0.0	3	0.008287292817679558	0	0.0	5	0.006596306068601583	G	16.70	3.196645	0.58126	9.09E-4	0.006633	ENSG00000181240	ENST00000321510	T	0.78364	-1.17	4.06	4.06	0.47325	Mitochondrial carrier domain (2);	.	.	.	.	T	0.79393	0.4438	L	0.50847	1.595	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.80903	-0.1174	9	0.36615	T	0.2	-19.5391	15.1731	0.72891	0.0:0.0:1.0:0.0	.	219	Q8N5S1	S2541_HUMAN	K	219	ENSP00000322649:T219K	ENSP00000322649:T219K	T	-	2	0	SLC25A41	6378481	1.000000	0.71417	0.063000	0.19743	0.412000	0.31113	5.956000	0.70315	2.091000	0.63221	0.455000	0.32223	ACG		0.612	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			T	6427481	G	T	6427481	1	4	331	0	1	0	0	0	0	0	0	0	14509	1145	40	3		3	SLC25A41	19	6427481	5'Flank	SNP	G	TCGA-29-1701-01A-01W-0633-09	2686762	6427481	52701502	39	17750											
ZSCAN5B	342933	genome.wustl.edu	37	19	56701325	56701325	+	Silent	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr19:56701325G>A	ENST00000586855.2	-	5	1672	c.1359C>T	c.(1357-1359)aaC>aaT	p.N453N	ZSCAN5B_ENST00000358992.3_Silent_p.N453N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	453					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAACGTTCAGGTTCCCCTTGT	0.552																																																0			19											91	93	92					19																	56701325		2086	4244	6330	61393137	SO:0001819	synonymous_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1359C>T	19.37:g.56701325G>A			61393137		Silent	SNP	ENST00000586855.2	37	CCDS46203.1																																																																																				0.552	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		A	56701325	G	A	56701325	2	1	331	1	0	0	0	0	0	0	0	1	18239	1252	44	2		2	ZSCAN5B	19	56701325	Silent	SNP	G	TCGA-29-1701-01A-01W-0633-09	50273844	56701325	2427658	40	17751											
SALL4	57167	genome.wustl.edu	37	20	50408387	50408387	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr20:50408387G>T	ENST00000217086.4	-	2	746	c.635C>A	c.(634-636)cCg>cAg	p.P212Q	SALL4_ENST00000395997.3_Missense_Mutation_p.P212Q|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	212					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGACCCACGGGATGCTGTT	0.622																																																0			20											69	70	70					20																	50408387		2203	4300	6503	49841794	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.635C>A	20.37:g.50408387G>T	ENSP00000217086:p.Pro212Gln		49841794	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784648	0.70222	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.69306	-0.39;-0.39	5.19	3.23	0.37069	.	0.433122	0.17588	N	0.168862	T	0.80374	0.4611	M	0.87381	2.88	0.80722	D	1	D;D	0.64830	0.994;0.989	P;P	0.60682	0.878;0.774	T	0.80876	-0.1186	10	0.87932	D	0	-26.3623	10.4443	0.44483	0.073:0.135:0.792:0.0	.	212;212	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	Q	212	ENSP00000217086:P212Q;ENSP00000379319:P212Q	ENSP00000217086:P212Q	P	-	2	0	SALL4	49841794	1.000000	0.71417	0.600000	0.28864	0.977000	0.68977	7.846000	0.86887	0.571000	0.29365	0.655000	0.94253	CCG		0.622	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			T	50408387	G	T	50408387	3	4	331	1	0	0	0	0	1	0	0	0	13816	1116	39	3	2538	3	SALL4	20	50408387	Missense_Mutation	SNP	G	TCGA-29-1701-01A-01W-0633-09		50408387	12617133	41	17752											
ZNF217	7764	genome.wustl.edu	37	20	52198016	52198016	+	Silent	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr20:52198016G>A	ENST00000371471.2	-	2	1775	c.1350C>T	c.(1348-1350)ccC>ccT	p.P450P	ZNF217_ENST00000302342.3_Silent_p.P450P|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	450					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGATTCCTTCGGGAAGCCCAT	0.602																																																0			20											66	63	64					20																	52198016		2203	4300	6503	51631423	SO:0001819	synonymous_variant	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1350C>T	20.37:g.52198016G>A			51631423	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																				0.602	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		A	52198016	G	A	52198016	2	1	331	1	0	0	0	0	0	0	0	1	17772	1103	39	1		1	ZNF217	20	52198016	Silent	SNP	G	TCGA-29-1701-01A-01W-0633-09	1789629	52198016	10827504	42	17753											
BMP7	655	genome.wustl.edu	37	20	55746159	55746159	+	Silent	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr20:55746159G>A	ENST00000395863.3	-	7	1657	c.1152C>T	c.(1150-1152)caC>caT	p.H384H	BMP7_ENST00000395864.3_Silent_p.H318H|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	384					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GGTTGATGAAGTGGACCTGAA	0.537																																																0			20											101	83	89					20																	55746159		2203	4300	6503	55179566	SO:0001819	synonymous_variant	655				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1152C>T	20.37:g.55746159G>A			55179566	Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	CCDS13455.1																																																																																				0.537	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			A	55746159	G	A	55746159	2	1	331	1	0	0	0	0	0	0	0	1	1465	1020	36	2		2	BMP7	20	55746159	Silent	SNP	G	TCGA-29-1701-01A-01W-0633-09	3548143	55746159	7279361	43	17754											
MMEL1	79258	genome.wustl.edu	37	1	2525356	2525356	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:2525356G>A	ENST00000378412.3	-	19	1925	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	MMEL1_ENST00000288709.6_Silent_p.I579I|MMEL1_ENST00000502556.1_Silent_p.I431I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	588						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGGGCTGGAGGATCCCGGCAG	0.597																																																0			1											54	48	50					1																	2525356		2203	4300	6503	2515216	SO:0001819	synonymous_variant	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1764C>T	1.37:g.2525356G>A			2515216	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	CCDS30569.2																																																																																				0.597	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		A	2525356	G	A	2525356	2	1	332	1	0	0	0	0	0	0	0	1	9646	1164	41	2		2	MMEL1	1	2525356	Silent	SNP	G	TCGA-29-1702-01A-01W-0633-09		2525356	246725265	1	17755											
CDC20	991	genome.wustl.edu	37	1	43828712	43828712	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:43828712G>A	ENST00000372462.1	+	10	1615	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H	ELOVL1_ENST00000470769.1_5'Flank|CDC20_ENST00000310955.6_Missense_Mutation_p.R471H			Q12834	CDC20_HUMAN	cell division cycle 20	471					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGCTATGGCGCTGTTTTGAG	0.617																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											0			1											86	90	89					1																	43828712		2203	4300	6503	43601299	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1412G>A	1.37:g.43828712G>A	ENSP00000361540:p.Arg471His		43601299	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463289	0.63513	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.30714	1.52;1.52	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.117526	0.64402	D	0.000011	T	0.22589	0.0545	N	0.25060	0.705	0.46586	D	0.999118	B	0.12013	0.005	B	0.12156	0.007	T	0.02877	-1.1099	10	0.48119	T	0.1	-17.7688	12.9207	0.58230	0.0742:0.0:0.9258:0.0	.	471	Q12834	CDC20_HUMAN	H	447;471;471	ENSP00000308450:R471H;ENSP00000361540:R471H	ENSP00000308450:R471H	R	+	2	0	CDC20	43601299	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.087000	0.71362	2.639000	0.89480	0.561000	0.74099	CGC		0.617	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		A	43828712	G	A	43828712	3	1	332	1	0	0	0	0	1	0	0	0	3059	1087	38	1	1450	1	CDC20	1	43828712	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	41303356	43828712	205421909	2	17756											
GNAI3	2773	genome.wustl.edu	37	1	110125089	110125089	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:110125089G>T	ENST00000369851.4	+	5	602	c.492G>T	c.(490-492)caG>caT	p.Q164H		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	164					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GAATATCCCAGTCTAACTACA	0.373																																																0			1											114	108	110					1																	110125089		2203	4300	6503	109926612	SO:0001583	missense	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.492G>T	1.37:g.110125089G>T	ENSP00000358867:p.Gln164His		109926612	P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	CCDS802.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390863	0.42410	.	.	ENSG00000065135	ENST00000369851	D	0.89050	-2.46	5.92	3.51	0.40186	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.80964	0.4725	M	0.79614	2.46	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.77335	-0.2626	10	0.56958	D	0.05	.	8.1553	0.31165	0.7118:0.0:0.2882:0.0	.	164	P08754	GNAI3_HUMAN	H	164	ENSP00000358867:Q164H	ENSP00000358867:Q164H	Q	+	3	2	GNAI3	109926612	0.991000	0.36638	0.988000	0.46212	0.923000	0.55619	2.434000	0.44802	0.496000	0.27904	-0.290000	0.09829	CAG		0.373	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		T	110125089	G	T	110125089	3	4	332	1	0	0	0	0	1	0	0	0	6506	1020	36	3	510	3	GNAI3	1	110125089	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	66296377	110125089	139125532	3	17757											
DPM3	54344	genome.wustl.edu	37	1	155112492	155112492	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:155112492C>T	ENST00000341298.3	-	2	360	c.225G>A	c.(223-225)caG>caA	p.Q75Q	DPM3_ENST00000368400.4_Silent_p.Q75Q|DPM3_ENST00000368399.1_Silent_p.Q105Q			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	75					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTATCTGGCTCTGCAGCTCGC	0.647																																																0			1											46	50	49					1																	155112492		2203	4300	6503	153379116	SO:0001819	synonymous_variant	54344			AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.225G>A	1.37:g.155112492C>T			153379116	Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Silent	SNP	ENST00000341298.3	37	CCDS1095.1																																																																																				0.647	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085519.1	NM_153741		T	155112492	C	T	155112492	2	4	332	1	0	0	0	0	0	0	0	1	4726	912	32	2		2	DPM3	1	155112492	Silent	SNP	C	TCGA-29-1702-01A-01W-0633-09	44987403	155112492	94138129	4	17758											
OR6K6	128371	genome.wustl.edu	37	1	158724893	158724893	+	Silent	SNP	C	C	T	rs141924378	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:158724893C>T	ENST00000368144.2	+	1	384	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCCTCTCCTTCCTGGAGATCT	0.493													C|||	3	0.000599042	0.0023	0	5008	,	,		22653	0		0	False		,,,				2504	0															0			1						C		14,4392	21.2+/-45.6	0,14,2189	142	142	142		288	3.6	1	1	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6K6	NM_001005184.1		0,15,6488	TT,TC,CC		0.0116,0.3177,0.1153		96/344	158724893	15,12991	2203	4300	6503	156991517	SO:0001819	synonymous_variant	128371			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.288C>T	1.37:g.158724893C>T			156991517	B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	ENST00000368144.2	37	CCDS30904.1																																																																																				0.493	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		T	158724893	C	T	158724893	2	4	332	1	0	0	0	0	0	0	0	1	11204	854	30	2		2	OR6K6	1	158724893	Silent	SNP	C	TCGA-29-1702-01A-01W-0633-09	3612401	158724893	90525728	5	17759											
NUF2	83540	genome.wustl.edu	37	1	163317604	163317604	+	Silent	SNP	T	T	C			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:163317604T>C	ENST00000271452.3	+	12	1279	c.1000T>C	c.(1000-1002)Ttg>Ctg	p.L334L	NUF2_ENST00000367900.3_Silent_p.L334L|NUF2_ENST00000524800.1_Silent_p.L287L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	334	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ACTGAAGAAATTGAAGACTGA	0.323																																																0			1											74	78	77					1																	163317604		2203	4300	6503	161584228	SO:0001819	synonymous_variant	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1000T>C	1.37:g.163317604T>C			161584228	Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	CCDS1245.1																																																																																				0.323	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		C	163317604	T	C	163317604	2	2	332	1	0	0	0	0	0	0	0	1	10747	1490	52	4		4	NUF2	1	163317604	Silent	SNP	T	TCGA-29-1702-01A-01W-0633-09	4592711	163317604	85933017	6	17760											
TARBP1	6894	genome.wustl.edu	37	1	234565299	234565299	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr1:234565299T>A	ENST00000040877.1	-	16	2733	c.2734A>T	c.(2734-2736)Agt>Tgt	p.S912C		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	912					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)			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)			AGAATTTCACTCCCTGTGGTT	0.423																																																0			1											97	99	98					1																	234565299		2203	4300	6503	232631922	SO:0001583	missense	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.2734A>T	1.37:g.234565299T>A	ENSP00000040877:p.Ser912Cys		232631922	Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478176	0.44044	.	.	ENSG00000059588	ENST00000040877	T	0.06528	3.29	5.36	-6.67	0.01783	.	1.200000	0.05556	N	0.568291	T	0.04770	0.0129	L	0.36672	1.1	0.09310	N	1	P	0.46020	0.871	B	0.40702	0.338	T	0.25606	-1.0127	10	0.66056	D	0.02	-11.7357	3.2373	0.06768	0.2701:0.4719:0.09:0.168	.	912	Q13395	TARB1_HUMAN	C	912	ENSP00000040877:S912C	ENSP00000040877:S912C	S	-	1	0	TARBP1	232631922	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.013000	0.12678	-1.244000	0.02516	0.533000	0.62120	AGT		0.423	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		A	234565299	T	A	234565299	3	1	332	1	0	0	0	0	1	0	0	0	15555	1551	54	5	2191	5	TARBP1	1	234565299	Missense_Mutation	SNP	T	TCGA-29-1702-01A-01W-0633-09	71247695	234565299	14685322	7	17761											
SFRS7	6432	genome.wustl.edu	37	2	38977254	38977254	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr2:38977254T>G	ENST00000313117.6	-	2	348	c.111A>C	c.(109-111)ttA>ttC	p.L37F	SRSF7_ENST00000446327.2_Missense_Mutation_p.L37F|GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000409276.1_Missense_Mutation_p.L37F	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	37	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATACAGTTCTTAAAGGACCAT	0.433																																																0			2											113	110	111					2																	38977254		2203	4300	6503	38830758	SO:0001583	missense	6432			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.111A>C	2.37:g.38977254T>G	ENSP00000325905:p.Leu37Phe		38830758	B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377838	0.61735	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.75367	-0.93;-0.93;-0.93	6.07	-0.905	0.10527	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.53938	D	0.000042	T	0.79953	0.4535	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.76326	-0.3000	10	0.87932	D	0	.	7.6829	0.28524	0.1318:0.5198:0.0:0.3484	.	37;37	G5E9M3;Q16629	.;SRSF7_HUMAN	F	37	ENSP00000325905:L37F;ENSP00000402264:L37F;ENSP00000386806:L37F	ENSP00000325905:L37F	L	-	3	2	SRSF7	38830758	0.995000	0.38212	0.426000	0.26672	0.998000	0.95712	0.412000	0.21131	-0.373000	0.07979	0.533000	0.62120	TTA		0.433	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		G	38977254	T	G	38977254	3	3	332	1	0	0	0	0	1	0	0	0	14185	1751	61	5	633	5	SFRS7	2	38977254	Missense_Mutation	SNP	T	TCGA-29-1702-01A-01W-0633-09		38977254	204222119	8	17762											
SH3RF3	344558	genome.wustl.edu	37	2	110065917	110065917	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr2:110065917G>A	ENST00000309415.6	+	8	2120	c.2120G>A	c.(2119-2121)tGc>tAc	p.C707Y		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	707							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AACACGGGATGCAAACTAGAC	0.577																																																0			2											37	41	39					2																	110065917		1972	4155	6127	109432349	SO:0001583	missense	344558			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2120G>A	2.37:g.110065917G>A	ENSP00000309186:p.Cys707Tyr		109432349	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	G	0	-2.736975	0.00088	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.58652	0.32;2.13	4.9	1.11	0.20524	.	0.482456	0.25789	N	0.028293	T	0.26159	0.0638	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26950	-1.0088	9	0.02654	T	1	-6.0234	6.0763	0.19917	0.2144:0.0:0.6529:0.1327	.	707	Q8TEJ3	SH3R3_HUMAN	Y	707	ENSP00000414997:C707Y;ENSP00000309186:C707Y	ENSP00000309186:C707Y	C	+	2	0	SH3RF3	109432349	0.981000	0.34729	0.001000	0.08648	0.005000	0.04900	1.714000	0.37961	0.024000	0.15214	-0.136000	0.14681	TGC		0.577	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		A	110065917	G	A	110065917	3	1	332	1	0	0	0	0	1	0	0	0	14263	1319	46	2	2150	2	SH3RF3	2	110065917	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	71088663	110065917	133133456	9	17763											
SH3BP4	23677	genome.wustl.edu	37	2	235961313	235961313	+	Silent	SNP	G	G	A	rs149657441		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr2:235961313G>A	ENST00000409212.1	+	5	3093	c.2586G>A	c.(2584-2586)gaG>gaA	p.E862E	SH3BP4_ENST00000392011.2_Silent_p.E862E|SH3BP4_ENST00000344528.4_Silent_p.E862E			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	862					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCTGGCTGAGAAGCTGGCCA	0.632																																																0			2						G		0,4386		0,0,2193	38	33	35		2586	3.5	1	2	dbSNP_134	35	2,8580		0,2,4289	no	coding-synonymous	SH3BP4	NM_014521.2		0,2,6482	AA,AG,GG		0.0233,0.0,0.0154		862/964	235961313	2,12966	2193	4291	6484	235626052	SO:0001819	synonymous_variant	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2586G>A	2.37:g.235961313G>A			235626052	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																				0.632	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			A	235961313	G	A	235961313	2	1	332	1	0	0	0	0	0	0	0	1	14249	933	33	2		2	SH3BP4	2	235961313	Silent	SNP	G	TCGA-29-1702-01A-01W-0633-09	125895396	235961313	7238060	10	17764											
P2RY1	5028	genome.wustl.edu	37	3	152554551	152554551	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr3:152554551C>T	ENST00000305097.3	+	1	1816	c.980C>T	c.(979-981)gCg>gTg	p.A327V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	327					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.A327V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TATTTCTTGGCGGGAGATACT	0.463																																																1	Substitution - Missense(1)	prostate(1)	3											61	65	64					3																	152554551		2203	4300	6503	154037241	SO:0001583	missense	5028			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.980C>T	3.37:g.152554551C>T	ENSP00000304767:p.Ala327Val		154037241		Missense_Mutation	SNP	ENST00000305097.3	37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810925	0.70797	.	.	ENSG00000169860	ENST00000305097	T	0.24538	1.85	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.52189	0.692	T	0.02444	-1.1158	10	0.02654	T	1	.	17.7371	0.88396	0.0:1.0:0.0:0.0	.	327	P47900	P2RY1_HUMAN	V	327	ENSP00000304767:A327V	ENSP00000304767:A327V	A	+	2	0	P2RY1	154037241	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.988000	0.70579	2.419000	0.82065	0.563000	0.77884	GCG		0.463	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		T	152554551	C	T	152554551	3	4	332	1	0	0	0	0	1	0	0	0	11346	768	27	1	982	1	P2RY1	3	152554551	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09		152554551	45467879	11	17765											
SLC34A2	10568	genome.wustl.edu	37	4	25678148	25678153	+	In_Frame_Del	DEL	GCTGCT	GCTGCT	-			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	GCTGCT	GCTGCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:25678148_25678153delGCTGCT	ENST00000382051.3	+	13	1900_1905	c.1850_1855delGCTGCT	c.(1849-1857)cgctgctgc>cgc	p.CC620del	SLC34A2_ENST00000504570.1_In_Frame_Del_p.CC619del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.CC619del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	620	Cys-rich.			C -> Y (in Ref. 1; AAC98695). {ECO:0000305}.	aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctgctg	0.641			T	ROS1	NSCLC																																		Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0			4																																								25287251	SO:0001651	inframe_deletion	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1855delGCTGCT	4.37:g.25678154_25678159delGCTGCT	ENSP00000371483:p.Cys620_Cys621del		25287246	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	ENST00000382051.3	37	CCDS3435.1																																																																																				0.641	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		-	25678153	GCTGCT	-	25678148	7	5	332	1	0	1	0	1	0	0	0	0	14571	1087	38	0	1896	0	SLC34A2	4	25678148	In_Frame_Del	DEL	GCTGCT	TCGA-29-1702-01A-01W-0633-09		25678148	165476128	12	17766											
KIT	3815	genome.wustl.edu	37	4	55561756	55561756	+	Missense_Mutation	SNP	G	G	A	rs376469897	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:55561756G>A	ENST00000288135.5	+	2	243	c.146G>A	c.(145-147)cGc>cAc	p.R49H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	49	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTAATAGTCCGCGTGGGCGAC	0.473		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				G|||	3	0.000599042	0.0015	0	5008	,	,		18286	0.001		0	False		,,,				2504	0					yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0			4						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	110	99	103		146,146	-3.5	0	4		103	0,8600		0,0,4300	no	missense,missense	KIT	NM_001093772.1,NM_000222.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	49/973,49/977	55561756	1,13005	2203	4300	6503	55256513	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.146G>A	4.37:g.55561756G>A	ENSP00000288135:p.Arg49His		55256513	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	7.096	0.573068	0.13623	2.27E-4	0.0	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.13307	2.6;2.6	5.19	-3.55	0.04639	Immunoglobulin-like fold (1);	1.448210	0.04040	N	0.302927	T	0.09113	0.0225	N	0.14661	0.345	0.09310	N	1	B;B	0.30361	0.211;0.277	B;B	0.33521	0.098;0.165	T	0.40346	-0.9568	10	0.49607	T	0.09	.	7.6489	0.28337	0.2859:0.1445:0.5697:0.0	.	49;49	P10721-2;P10721	.;KIT_HUMAN	H	49	ENSP00000288135:R49H;ENSP00000390987:R49H	ENSP00000288135:R49H	R	+	2	0	KIT	55256513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.046000	0.14035	-0.429000	0.07329	-1.283000	0.01379	CGC		0.473	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			A	55561756	G	A	55561756	3	1	332	1	0	0	0	0	1	0	0	0	8329	1087	38	1	152	1	KIT	4	55561756	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	29883608	55561756	135592520	13	17767											
SRP72	6731	genome.wustl.edu	37	4	57357655	57357655	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:57357655C>A	ENST00000342756.5	+	16	2282	c.1561C>A	c.(1561-1563)Ctt>Att	p.L521I	SRP72_ENST00000510663.1_Missense_Mutation_p.L460I	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	521					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TGTTGAGGCTCTTGAAAATTC	0.378																																																0			4											147	150	149					4																	57357655		2203	4300	6503	57052412	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1561C>A	4.37:g.57357655C>A	ENSP00000342181:p.Leu521Ile		57052412	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972031	0.92919	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	D;D	0.89050	-2.42;-2.46	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.79475	2.455	0.80722	D	1	D;D;D	0.71674	0.998;0.977;0.998	D;P;D	0.69142	0.962;0.883;0.917	D	0.93956	0.7236	10	0.52906	T	0.07	.	16.7765	0.85552	0.0:1.0:0.0:0.0	.	460;521;521	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	I	521;466;460;282	ENSP00000342181:L521I;ENSP00000424576:L460I	ENSP00000342181:L521I	L	+	1	0	SRP72	57052412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.793000	0.62474	2.604000	0.88044	0.655000	0.94253	CTT		0.378	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			A	57357655	C	A	57357655	3	1	332	1	0	0	0	0	1	0	0	0	15159	913	32	3	1623	3	SRP72	4	57357655	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09	1795899	57357655	133796621	14	17768											
TMPRSS11F	389208	genome.wustl.edu	37	4	68938039	68938039	+	Splice_Site	SNP	A	A	C			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:68938039A>C	ENST00000356291.2	-	5	574		c.e5+1		UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TAAAAGACTTACGTGTGAGTC	0.269																																																0			4											67	69	68					4																	68938039		2203	4297	6500	68620634	SO:0001630	splice_region_variant	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.514+1T>G	4.37:g.68938039A>C			68620634	A8MXX2	Splice_Site	SNP	ENST00000356291.2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010999	0.54361	.	.	ENSG00000198092	ENST00000356291	.	.	.	6.06	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1542	0.31158	0.9131:0.0:0.0869:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS11F	68620634	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.727000	0.47311	2.323000	0.78572	0.528000	0.53228	.		0.269	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	Intron	C	68938039	A	C	68938039	5	2	332	1	0	0	0	0	0	0	1	0	16243	405	14	5	824	5	TMPRSS11F	4	68938039	Splice_Site	SNP	A	TCGA-29-1702-01A-01W-0633-09	11580384	68938039	122216237	15	17769											
MUC7	4589	genome.wustl.edu	37	4	71347281	71347281	+	Missense_Mutation	SNP	G	G	A	rs145010129	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:71347281G>A	ENST00000304887.5	+	3	1010	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	MUC7_ENST00000456088.1_Missense_Mutation_p.A274T|MUC7_ENST00000413702.1_Missense_Mutation_p.A274T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	274	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCATCATCCGCCTCAGCTCC	0.592													T|||	26	0.00519169	0.0189	0.0014	5008	,	,		19671	0		0	False		,,,				2504	0															0			4						G	THR/ALA,THR/ALA,THR/ALA	56,4342		1,54,2144	464	412	429		820,820,820	-2	0	4	dbSNP_134	429	1,8599		0,1,4299	yes	missense,missense,missense	MUC7	NM_152291.2,NM_001145007.1,NM_001145006.1	58,58,58	1,55,6443	AA,AG,GG		0.0116,1.2733,0.4385	benign,benign,benign	274/378,274/378,274/378	71347281	57,12941	2199	4300	6499	71381870	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.820G>A	4.37:g.71347281G>A	ENSP00000302021:p.Ala274Thr		71381870	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	T	7.111	0.575934	0.13623	0.012733	1.16E-4	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.54675	0.56;0.56;0.56	1.24	-2.04	0.07343	.	.	.	.	.	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14172	-1.0482	8	.	.	.	.	3.6927	0.08353	0.2119:0.0:0.5025:0.2855	.	274	Q8TAX7	MUC7_HUMAN	T	274	ENSP00000407422:A274T;ENSP00000400585:A274T;ENSP00000302021:A274T	.	A	+	1	0	MUC7	71381870	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-0.547000	0.06207	-1.973000	0.00462	GCC		0.592	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		A	71347281	G	A	71347281	3	1	332	1	0	0	0	0	1	0	0	0	9981	1087	38	1	826	1	MUC7	4	71347281	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	2409242	71347281	119806995	16	17770											
CASP6	839	genome.wustl.edu	37	4	110615716	110615717	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	TG	TG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:110615716_110615717delTG	ENST00000265164.2	-	5	524_525	c.447_448delCA	c.(445-450)cacagcfs	p.HS149fs	CASP6_ENST00000352981.3_Frame_Shift_Del_p.HS60fs|CASP6_ENST00000510324.1_5'UTR|AC004067.5_ENST00000608733.1_RNA	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	149					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CCAACCAGGCTGTGACACTTGT	0.376																																																0			4																																								110835166	SO:0001589	frameshift_variant	839			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"Caspases"	1507	protein-coding gene	gene with protein product		601532	"caspase 6, apoptosis-related cysteine protease"			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.447_448delCA	4.37:g.110615718_110615719delTG	ENSP00000265164:p.His149fs		110835165	Q9BQE7	Frame_Shift_Del	DEL	ENST00000265164.2	37	CCDS3684.1																																																																																				0.376	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		-	110615717	TG	-	110615716	7	5	332	1	0	1	0	1	0	0	0	0	2675	1580	55	0	445	0	CASP6	4	110615716	Frame_Shift_Del	DEL	TG	TCGA-29-1702-01A-01W-0633-09	39268435	110615716	80538560	17	17771											
ADAM29	11086	genome.wustl.edu	37	4	175899083	175899083	+	Missense_Mutation	SNP	C	C	A	rs141115697	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:175899083C>A	ENST00000359240.3	+	5	3077	c.2407C>A	c.(2407-2409)Cag>Aag	p.Q803K	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q803K|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q803K|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q803K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	803	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q803*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GACACCCTCCCAGAGGCAACC	0.567																																					Ovarian(140;1727 1835 21805 25838 41440)											1	Substitution - Nonsense(1)	lung(1)	4											133	125	128					4																	175899083		2203	4300	6503	176135658	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2407C>A	4.37:g.175899083C>A	ENSP00000352177:p.Gln803Lys		176135658	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	4.227	0.041090	0.08196	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01787	4.64;4.64;4.64;4.64	0.629	0.629	0.17687	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.21984	N	0.999439	B	0.24920	0.114	B	0.14023	0.01	T	0.49184	-0.8966	8	.	.	.	.	7.1904	0.25822	0.0:0.9999:0.0:1.0E-4	.	803	Q9UKF5	ADA29_HUMAN	K	803	ENSP00000352177:Q803K;ENSP00000414544:Q803K;ENSP00000384229:Q803K;ENSP00000423517:Q803K	.	Q	+	1	0	ADAM29	176135658	0.063000	0.20901	0.006000	0.13384	0.015000	0.08874	1.091000	0.30915	0.663000	0.31027	0.280000	0.19369	CAG		0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175899083	C	A	175899083	3	1	332	1	0	0	0	0	1	0	0	0	247	595	21	3	2409	3	ADAM29	4	175899083	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09	65283367	175899083	15255193	18	17772											
FAM149A	25854	genome.wustl.edu	37	4	187086540	187086540	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr4:187086540G>A	ENST00000356371.5	+	11	1959	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	FAM149A_ENST00000389354.5_Silent_p.T362T|FAM149A_ENST00000502970.1_Silent_p.T362T|FAM149A_ENST00000227065.4_Silent_p.T362T|FAM149A_ENST00000514153.1_Silent_p.T362T|FAM149A_ENST00000503432.1_Silent_p.T362T			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	653										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TGGTTCAAACGTCACGGAGCA	0.537																																																0			4											112	103	106					4																	187086540		2203	4300	6503	187323534	SO:0001819	synonymous_variant	25854			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1959G>A	4.37:g.187086540G>A			187323534	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.479|4.479	0.088773|0.088773	0.08583|0.08583	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000512271	.|.	.|.	.|.	5.55|5.55	-1.69|-1.69	0.08186|0.08186	.|.	.|.	.|.	.|.	.|.	T|T	0.17959|0.17959	0.0431|0.0431	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23904|0.23904	-1.0175|-1.0175	4|4	.|.	.|.	.|.	-7.9089|-7.9089	0.2342|0.2342	0.00184|0.00184	0.2252:0.2393:0.2412:0.2943|0.2252:0.2393:0.2412:0.2943	.|.	.|.	.|.	.|.	H|I	40|40	.|.	.|.	R|V	+|+	2|1	0|0	FAM149A|FAM149A	187323534|187323534	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.053000|-0.053000	0.11846|0.11846	-0.233000|-0.233000	0.09797|0.09797	-1.835000|-1.835000	0.00590|0.00590	CGT|GTC		0.537	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		A	187086540	G	A	187086540	2	1	332	1	0	0	0	0	0	0	0	1	5455	1132	40	1		1	FAM149A	4	187086540	Silent	SNP	G	TCGA-29-1702-01A-01W-0633-09	11187457	187086540	4067736	19	17773											
EMB	133418	genome.wustl.edu	37	5	49706792	49706792	+	Missense_Mutation	SNP	T	T	C	rs138980748		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr5:49706792T>C	ENST00000303221.5	-	4	606	c.391A>G	c.(391-393)Atc>Gtc	p.I131V	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.I81V|EMB_ENST00000508934.1_Missense_Mutation_p.I77V	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	131	Ig-like V-type 1.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CTATTAATGATGGTGAACCTA	0.279																																																0			5						T	VAL/ILE	1,4401	2.1+/-5.4	0,1,2200	35	37	36		391	1.6	0.2	5	dbSNP_134	36	0,8532		0,0,4266	no	missense	EMB	NM_198449.2	29	0,1,6466	CC,CT,TT		0.0,0.0227,0.0077	benign	131/328	49706792	1,12933	2201	4266	6467	49742549	SO:0001583	missense	133418			BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.391A>G	5.37:g.49706792T>C	ENSP00000302289:p.Ile131Val		49742549	B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	T	7.470	0.646538	0.14451	2.27E-4	0.0	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.42513	2.66;0.97;2.66	5.4	1.65	0.23941	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.247381	0.41001	N	0.000961	T	0.24812	0.0602	N	0.20986	0.625	0.09310	N	1	B;B	0.26577	0.06;0.153	B;B	0.28916	0.017;0.096	T	0.17684	-1.0361	9	.	.	.	-7.1002	6.951	0.24546	0.0:0.2814:0.0:0.7186	.	77;131	D6RDX7;Q6PCB8	.;EMB_HUMAN	V	131;103;77;81	ENSP00000302289:I131V;ENSP00000425215:I77V;ENSP00000426404:I81V	.	I	-	1	0	EMB	49742549	0.001000	0.12720	0.154000	0.22540	0.892000	0.51952	-0.089000	0.11180	0.056000	0.16144	0.524000	0.50904	ATC		0.279	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		C	49706792	T	C	49706792	3	2	332	1	0	0	0	0	1	0	0	0	5085	1464	51	4	616	4	EMB	5	49706792	Missense_Mutation	SNP	T	TCGA-29-1702-01A-01W-0633-09		49706792	131208468	20	17774											
HTR1A	3350	genome.wustl.edu	37	5	63257156	63257156	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr5:63257156C>T	ENST00000323865.3	-	1	624	c.391G>A	c.(391-393)Gcg>Acg	p.A131T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	131					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTGTCCAGCGCGATGGCGCAC	0.622																																																0			5											67	64	65					5																	63257156		2203	4300	6503	63292912	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.391G>A	5.37:g.63257156C>T	ENSP00000316244:p.Ala131Thr		63292912	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112021	0.94339	.	.	ENSG00000178394	ENST00000323865	T	0.76186	-1.0	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90013	0.6882	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92467	0.5982	10	0.87932	D	0	.	18.0729	0.89417	0.0:1.0:0.0:0.0	.	131	P08908	5HT1A_HUMAN	T	131	ENSP00000316244:A131T	ENSP00000316244:A131T	A	-	1	0	HTR1A	63292912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.509000	0.84616	0.561000	0.74099	GCG		0.622	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		T	63257156	C	T	63257156	3	4	332	1	0	0	0	0	1	0	0	0	7436	768	27	1	880	1	HTR1A	5	63257156	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09	13550364	63257156	117658104	21	17775											
PCDHA4	56144	genome.wustl.edu	37	5	140187503	140187503	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr5:140187503G>A	ENST00000530339.1	+	1	731	c.731G>A	c.(730-732)aGa>aAa	p.R244K	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R244K|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R244K|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	244	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTTGACAGAACCATTTAT	0.433																																																0			5											59	59	59					5																	140187503		2203	4300	6503	140167687	SO:0001583	missense	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.731G>A	5.37:g.140187503G>A	ENSP00000435300:p.Arg244Lys		140167687	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	0.470	-0.884876	0.02511	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.60424	0.19;0.19;0.19	4.34	0.297	0.15762	Cadherin (3);Cadherin-like (1);	0.514958	0.16029	N	0.232963	T	0.27798	0.0684	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.12156	0.005;0.007;0.003	T	0.19976	-1.0289	10	0.34782	T	0.22	.	10.03	0.42094	0.5855:0.0:0.4145:0.0	.	244;244;244	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	K	244	ENSP00000423470:R244K;ENSP00000349344:R244K;ENSP00000435300:R244K	ENSP00000349344:R244K	R	+	2	0	PCDHA4	140167687	0.000000	0.05858	0.008000	0.14137	0.401000	0.30781	0.811000	0.27198	-0.184000	0.10567	0.467000	0.42956	AGA		0.433	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		A	140187503	G	A	140187503	3	1	332	1	0	0	0	0	1	0	0	0	11526	942	33	2	733	2	PCDHA4	5	140187503	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	76930347	140187503	40727757	22	17776											
VNN2	8875	genome.wustl.edu	37	6	133072587	133072587	+	Silent	SNP	A	A	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr6:133072587A>G	ENST00000326499.6	-	5	1021	c.897T>C	c.(895-897)ctT>ctC	p.L299L	VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.L246L|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	299	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTGAAAGGAGAAGTTTTCCCA	0.433																																																0			6											73	72	72					6																	133072587		2201	4286	6487	133114280	SO:0001819	synonymous_variant	8875			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.897T>C	6.37:g.133072587A>G			133114280	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	CCDS5161.1																																																																																				0.433	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			G	133072587	A	G	133072587	2	3	332	1	0	0	0	0	0	0	0	1	17183	233	9	4		4	VNN2	6	133072587	Silent	SNP	A	TCGA-29-1702-01A-01W-0633-09		133072587	38042480	23	17777											
PLG	5340	genome.wustl.edu	37	6	161139758	161139758	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr6:161139758C>A	ENST00000308192.9	+	9	1047	c.984C>A	c.(982-984)gaC>gaA	p.D328E		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	328	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCAATCCTGACGGAAAAAGGG	0.463																																																0			6											75	77	76					6																	161139758		2203	4300	6503	161059748	SO:0001583	missense	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.984C>A	6.37:g.161139758C>A	ENSP00000308938:p.Asp328Glu		161059748	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390174	0.62066	.	.	ENSG00000122194	ENST00000308192	T	0.72394	-0.65	5.2	-2.98	0.05513	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.173822	0.26688	U	0.023018	T	0.73401	0.3582	H	0.95294	3.65	0.50813	D	0.999897	P	0.38110	0.618	P	0.45610	0.487	T	0.79198	-0.1902	10	0.87932	D	0	.	11.4405	0.50094	0.0:0.4259:0.0:0.5741	.	328	P00747	PLMN_HUMAN	E	328	ENSP00000308938:D328E	ENSP00000308938:D328E	D	+	3	2	PLG	161059748	1.000000	0.71417	0.182000	0.23118	0.024000	0.10985	0.775000	0.26689	-0.352000	0.08237	-0.339000	0.08088	GAC		0.463	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		A	161139758	C	A	161139758	3	1	332	1	0	0	0	0	1	0	0	0	12086	535	19	3	1022	3	PLG	6	161139758	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09	28067171	161139758	9975309	24	17778											
ABCA13	154664	genome.wustl.edu	37	7	48450175	48450175	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr7:48450175C>T	ENST00000435803.1	+	40	12153	c.12129C>T	c.(12127-12129)cgC>cgT	p.R4043R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4043	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAGTGACCGCGTGGCCGTCC	0.622																																																0			7											111	109	110					7																	48450175		2081	4217	6298	48420721	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12129C>T	7.37:g.48450175C>T			48420721	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.622	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48450175	C	T	48450175	2	4	332	1	0	0	0	0	0	0	0	1	31	755	27	1		1	ABCA13	7	48450175	Silent	SNP	C	TCGA-29-1702-01A-01W-0633-09		48450175	110688488	25	17779											
ZNF479	90827	genome.wustl.edu	37	7	57188819	57188819	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr7:57188819C>T	ENST00000331162.4	-	5	573	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CTTTGATGCCCTGCTCTGGCT	0.368																																																0			7											39	38	38					7																	57188819		1783	4028	5811	57192761	SO:0001819	synonymous_variant	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.303G>A	7.37:g.57188819C>T			57192761		Silent	SNP	ENST00000331162.4	37	CCDS43590.1																																																																																				0.368	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		T	57188819	C	T	57188819	2	4	332	1	0	0	0	0	0	0	0	1	17933	680	24	2		2	ZNF479	7	57188819	Silent	SNP	C	TCGA-29-1702-01A-01W-0633-09	8738644	57188819	101949844	26	17780											
ANK1	286	genome.wustl.edu	37	8	41571692	41571692	+	Silent	SNP	G	G	T	rs61753679	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr8:41571692G>T	ENST00000347528.4	-	16	1865	c.1782C>A	c.(1780-1782)tcC>tcA	p.S594S	ANK1_ENST00000352337.4_Silent_p.S594S|ANK1_ENST00000396942.1_Silent_p.S594S|ANK1_ENST00000265709.8_Silent_p.S627S|ANK1_ENST00000379758.2_Silent_p.S594S|ANK1_ENST00000396945.1_Silent_p.S594S|ANK1_ENST00000289734.7_Silent_p.S594S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	594	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCTGTGCGGGGAGCCGCCCC	0.657													G|||	55	0.0109824	8e-04	0.0274	5008	,	,		13697	0.001		0.0318	False		,,,				2504	0.002															0			8						G	,,,,	31,4373		0,31,2171	17	20	19		1782,1881,1782,1782,1782	2.8	1	8	dbSNP_129	19	312,8284		8,296,3994	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	8,327,6165	TT,TG,GG		3.6296,0.7039,2.6385	,,,,	594/1881,627/1898,594/1857,594/1882,594/1720	41571692	343,12657	2202	4298	6500	41690849	SO:0001819	synonymous_variant	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1782C>A	8.37:g.41571692G>T			41690849	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1																																																																																				0.657	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41571692	G	T	41571692	2	4	332	1	0	0	0	0	0	0	0	1	620	1219	43	3		3	ANK1	8	41571692	Silent	SNP	G	TCGA-29-1702-01A-01W-0633-09		41571692	104792330	27	17781											
DCAF4L2	138009	genome.wustl.edu	37	8	88886089	88886089	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr8:88886089G>A	ENST00000319675.3	-	1	207	c.111C>T	c.(109-111)ctC>ctT	p.L37L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	37										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGGCGAATCTGAGGAAACCTA	0.507																																																0			8											88	80	82					8																	88886089		2203	4300	6503	88955205	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.111C>T	8.37:g.88886089G>A			88955205		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																				0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		A	88886089	G	A	88886089	2	1	332	1	0	0	0	0	0	0	0	1	4272	1277	45	2		2	DCAF4L2	8	88886089	Silent	SNP	G	TCGA-29-1702-01A-01W-0633-09	47314397	88886089	57477933	28	17782											
TMEM71	137835	genome.wustl.edu	37	8	133764201	133764201	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr8:133764201G>A	ENST00000356838.3	-	4	286	c.144C>T	c.(142-144)tgC>tgT	p.C48C	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C48C|TMEM71_ENST00000523829.1_Silent_p.C48C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	48						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTATGGAGCCGCATTCAAAAG	0.453																																																0			8											78	78	78					8																	133764201		2203	4300	6503	133833383	SO:0001819	synonymous_variant	137835			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.144C>T	8.37:g.133764201G>A			133833383	Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	ENST00000356838.3	37	CCDS6366.1																																																																																				0.453	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		A	133764201	G	A	133764201	2	1	332	1	0	0	0	0	0	0	0	1	16200	1079	38	1		1	TMEM71	8	133764201	Silent	SNP	G	TCGA-29-1702-01A-01W-0633-09	44878112	133764201	12599821	29	17783											
C9orf66	157983	genome.wustl.edu	37	9	214675	214675	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr9:214675C>T	ENST00000382387.2	-	1	1218	c.722G>A	c.(721-723)gGg>gAg	p.G241E	DOCK8_ENST00000453981.1_5'Flank|DOCK8_ENST00000432829.2_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	241	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTCGGCGGCCCCGGGCAGAGC	0.781																																																0			9											5	6	6					9																	214675		2094	4043	6137	204675	SO:0001583	missense	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.722G>A	9.37:g.214675C>T	ENSP00000371824:p.Gly241Glu		204675	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	.	10.27	1.304953	0.23736	.	.	ENSG00000183784	ENST00000382387	T	0.20598	2.06	4.13	0.668	0.17912	.	.	.	.	.	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	P	0.35844	0.524	B	0.30782	0.12	T	0.23190	-1.0195	9	0.87932	D	0	.	2.8435	0.05536	0.1674:0.4694:0.2578:0.1054	.	241	Q5T8R8	CI066_HUMAN	E	241	ENSP00000371824:G241E	ENSP00000371824:G241E	G	-	2	0	C9orf66	204675	0.006000	0.16342	0.071000	0.20095	0.697000	0.40408	0.174000	0.16743	-0.012000	0.14223	0.484000	0.47621	GGG		0.781	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		T	214675	C	T	214675	3	4	332	1	0	0	0	0	1	0	0	0	2490	623	22	2	169	2	C9orf66	9	214675	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09		214675	140998756	30	17784											
C9orf91	203197	genome.wustl.edu	37	9	117390523	117390525	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	AGA	AGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr9:117390523_117390525delAGA	ENST00000288502.4	+	5	904_906	c.467_469delAGA	c.(466-471)cagaag>cag	p.K158del	C9orf91_ENST00000374049.4_In_Frame_Del_p.K159del			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	158						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GAAAGACACCAGAAGAAGGTGAG	0.542																																																0			9																																								116430346	SO:0001651	inframe_deletion	203197			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.467_469delAGA	9.37:g.117390526_117390528delAGA	ENSP00000288502:p.Lys158del		116430344	A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	In_Frame_Del	DEL	ENST00000288502.4	37	CCDS6808.1																																																																																				0.542	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		-	117390525	AGA	-	117390523	7	5	332	1	0	1	0	1	0	0	0	0	2505	188	7	0	481	0	C9orf91	9	117390523	In_Frame_Del	DEL	AGA	TCGA-29-1702-01A-01W-0633-09	117175848	117390523	23822908	31	17785											
COL5A1	1289	genome.wustl.edu	37	9	137726961	137726961	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr9:137726961G>T	ENST00000371817.3	+	65	5695	c.5281G>T	c.(5281-5283)Gac>Tac	p.D1761Y		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1761	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCAGCTACGACAAGGCCCT	0.632																																																0			9											85	66	73					9																	137726961		2203	4300	6503	136866782	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5281G>T	9.37:g.137726961G>T	ENSP00000360882:p.Asp1761Tyr		136866782	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.681446|3.681446	0.68042|0.68042	.|.	.|.	ENSG00000130635|ENSG00000130635	ENST00000371817;ENST00000355306|ENST00000371820	T|.	0.74526|.	-0.85|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Fibrillar collagen, C-terminal (4);|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.83321|0.83321	0.5229|0.5229	M|M	0.87180|0.87180	2.865|2.865	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	D|D	0.85959|0.85959	0.1469|0.1469	10|5	0.87932|.	D|.	0|.	.|.	18.3643|18.3643	0.90385|0.90385	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1761|.	P20908|.	CO5A1_HUMAN|.	Y|L	1761;298|180	ENSP00000360882:D1761Y|.	ENSP00000347458:D298Y|.	D|R	+|+	1|2	0|0	COL5A1|COL5A1	136866782|136866782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.659000|9.659000	0.98597|0.98597	2.340000|2.340000	0.79590|0.79590	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137726961	G	T	137726961	3	4	332	1	0	0	0	0	1	0	0	0	3696	1058	37	3	5539	3	COL5A1	9	137726961	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	20336438	137726961	3486470	32	17786											
ZEB1	6935	genome.wustl.edu	37	10	31810579	31810579	+	Silent	SNP	C	C	T	rs143340752	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr10:31810579C>T	ENST00000320985.10	+	7	2426	c.2316C>T	c.(2314-2316)tgC>tgT	p.C772C	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.C752C|ZEB1_ENST00000542815.3_Silent_p.C705C|ZEB1_ENST00000446923.2_Silent_p.C756C|ZEB1_ENST00000361642.5_Silent_p.C773C			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	772					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACTTGTCTTGCGCAAAAAAGG	0.408													C|||	4	0.000798722	8e-04	0.0014	5008	,	,		21846	0.002		0	False		,,,				2504	0				Ovarian(40;423 959 14296 36701 49589)											0			10						C	,,,,,	1,4405	2.1+/-5.4	0,1,2202	105	95	98		2268,2256,2265,2115,2319,2316	-1.2	1	10	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZEB1	NM_001128128.2,NM_001174093.1,NM_001174094.1,NM_001174095.1,NM_001174096.1,NM_030751.5	,,,,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,,,,	756/1109,752/1105,755/1108,705/1058,773/1126,772/1125	31810579	4,13002	2203	4300	6503	31850585	SO:0001819	synonymous_variant	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2316C>T	10.37:g.31810579C>T			31850585	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	CCDS7169.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	3.879	-0.026265	0.07589	2.27E-4	3.49E-4	ENSG00000148516	ENST00000546250	.	.	.	5.3	-1.2	0.09554	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4659	0.44607	0.0:0.3733:0.0:0.6267	.	.	.	.	.	-1	.	.	.	+	.	.	ZEB1	31850585	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	0.745000	0.26259	-0.121000	0.11787	0.650000	0.86243	.		0.408	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		T	31810579	C	T	31810579	2	4	332	1	0	0	0	0	0	0	0	1	17623	776	27	1		1	ZEB1	10	31810579	Silent	SNP	C	TCGA-29-1702-01A-01W-0633-09		31810579	103724168	33	17787											
AGAP6	414189	genome.wustl.edu	37	10	51748557	51748557	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr10:51748557G>A	ENST00000374056.4	+	1	480	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	AGAP6_ENST00000412531.3_Missense_Mutation_p.E28K			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	28					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GTGTCCCTCTGAATCTGAGAC	0.592																																																0			10																																								51418563	SO:0001583	missense	0				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.82G>A	10.37:g.51748557G>A	ENSP00000363168:p.Glu28Lys		51418563		Missense_Mutation	SNP	ENST00000374056.4	37		.	.	.	.	.	.	.	.	.	.	G	10.91	1.485046	0.26598	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D;D	0.85861	-2.04;-2.04	1.16	1.16	0.20824	.	0.062472	0.64402	D	0.000006	D	0.83110	0.5183	L	0.32530	0.975	0.09310	N	0.999997	P	0.34587	0.458	P	0.51742	0.678	T	0.74312	-0.3706	10	0.87932	D	0	.	5.7414	0.18096	0.0:0.0:1.0:0.0	.	28	C9IYN2	.	K	28	ENSP00000363168:E28K;ENSP00000400972:E28K	ENSP00000363168:E28K	E	+	1	0	AGAP6	51418563	0.023000	0.18921	0.455000	0.27031	0.091000	0.18340	0.861000	0.27885	0.958000	0.37956	0.175000	0.17021	GAA		0.592	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		A	51748557	G	A	51748557	3	1	332	1	0	0	0	0	1	0	0	0	372	1291	45	2	84	2	AGAP6	10	51748557	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	19937978	51748557	83786190	34	17788											
B3GNT1	11041	genome.wustl.edu	37	11	66114029	66114029	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr11:66114029C>T	ENST00000311181.4	-	1	1134	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	330					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCTCCTGCCACGTAGAATGGC	0.627																																																0			11											67	72	70					11																	66114029		2200	4294	6494	65870605	SO:0001583	missense	10678			AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.988G>A	11.37:g.66114029C>T	ENSP00000309096:p.Val330Met		65870605	Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336227	0.60963	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.30448	1.53	5.83	5.83	0.93111	.	0.072297	0.64402	D	0.000016	T	0.50343	0.1610	M	0.70595	2.14	0.43467	D	0.995677	D	0.76494	0.999	D	0.64042	0.921	T	0.50676	-0.8800	10	0.62326	D	0.03	-33.3921	10.9633	0.47397	0.0:0.9152:0.0:0.0848	.	330	O43505	B3GN1_HUMAN	M	330;101	ENSP00000309096:V330M	ENSP00000309096:V330M	V	-	1	0	B3GNT1	65870605	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.713000	0.47194	2.761000	0.94854	0.563000	0.77884	GTG		0.627	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		T	66114029	C	T	66114029	3	4	332	1	0	0	0	0	1	0	0	0	1256	536	19	1	267	1	B3GNT1	11	66114029	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09		66114029	68892487	35	17789											
SHANK2	22941	genome.wustl.edu	37	11	70332558	70332558	+	Silent	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr11:70332558G>A	ENST00000423696.2	-	15	2739	c.2703C>T	c.(2701-2703)aaC>aaT	p.N901N	SHANK2_ENST00000409161.1_Silent_p.N684N|SHANK2_ENST00000449833.2_Silent_p.N685N|SHANK2_ENST00000338508.4_Silent_p.N1281N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	901					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCTCGTACTTGTTCTCCGTCT	0.597																																																0			11											96	96	96					11																	70332558		2200	4294	6494	70010206	SO:0001819	synonymous_variant	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2703C>T	11.37:g.70332558G>A			70010206	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37																																																																																					0.597	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		A	70332558	G	A	70332558	2	1	332	1	0	0	0	0	0	0	0	1	14268	1368	48	2		2	SHANK2	11	70332558	Silent	SNP	G	TCGA-29-1702-01A-01W-0633-09	4218529	70332558	64673958	36	17790											
AMOTL1	154810	genome.wustl.edu	37	11	94532609	94532609	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr11:94532609G>T	ENST00000433060.2	+	3	394	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L	AMOTL1_ENST00000317829.8_Missense_Mutation_p.V35L|AMOTL1_ENST00000317837.9_Missense_Mutation_p.V85L	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	85					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GATCTCAGAGGTGGAAATGAG	0.483																																																0			11											32	30	31					11																	94532609		1896	4122	6018	94172257	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.253G>T	11.37:g.94532609G>T	ENSP00000387739:p.Val85Leu		94172257	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104513	0.56291	.	.	ENSG00000166025	ENST00000299004;ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.66	4.66	0.58398	.	0.113259	0.37530	N	0.002050	T	0.44201	0.1282	L	0.38175	1.15	0.54753	D	0.999986	D;P	0.53151	0.958;0.93	P;P	0.49332	0.607;0.504	T	0.41197	-0.9522	10	0.46703	T	0.11	-17.6641	17.1639	0.86810	0.0:0.0:1.0:0.0	.	35;85	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	L	114;35;91;85;85	ENSP00000299004:V114L;ENSP00000320968:V35L;ENSP00000323474:V85L;ENSP00000387739:V85L	ENSP00000299004:V114L	V	+	1	0	AMOTL1	94172257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.659000	0.46741	2.145000	0.66743	0.555000	0.69702	GTG		0.483	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		T	94532609	G	T	94532609	3	4	332	1	0	0	0	0	1	0	0	0	583	1261	44	3	263	3	AMOTL1	11	94532609	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	24200051	94532609	40473907	37	17791											
HMBS	3145	genome.wustl.edu	37	11	118960702	118960702	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr11:118960702G>A	ENST00000278715.3	+	7	498	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	HMBS_ENST00000544387.1_Missense_Mutation_p.R116Q|HMBS_ENST00000392841.1_Missense_Mutation_p.R99Q|HMBS_ENST00000543090.1_Missense_Mutation_p.R98Q|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000537841.1_Missense_Mutation_p.R99Q|HMBS_ENST00000542729.1_Missense_Mutation_p.R99Q|HMBS_ENST00000442944.2_Missense_Mutation_p.R99Q	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	116			R -> Q (in AIP). {ECO:0000269|PubMed:8081367}.|R -> W (in AIP; loss of activity). {ECO:0000269|PubMed:10602775, ECO:0000269|PubMed:11030413, ECO:0000269|PubMed:7962538, ECO:0000269|PubMed:9225970}.		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TCCCCCAGGCGGGAAAACCCT	0.493																																																0			11	GRCh37	CM940937	HMBS	M							84	89	87					11																	118960702		2200	4295	6495	118465912	SO:0001583	missense	3145			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"uroporphyrinogen I synthase", "porphobilinogen deaminase", "porphyria, acute; Chester type"	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.347G>A	11.37:g.118960702G>A	ENSP00000278715:p.Arg116Gln		118465912	A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	G	36	5.854238	0.97030	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000536813;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	6.17	6.17	0.99709	Porphobilinogen deaminase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99937	0.9972	H	0.98594	4.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.96443	0.9328	10	0.87932	D	0	-23.9126	19.8676	0.96824	0.0:0.0:1.0:0.0	.	99;99;98;116;116	P08397-2;G3V1P4;F5H345;G5EA58;P08397	.;.;.;.;HEM3_HUMAN	Q	116;110;99;99;90;116;98;99;99;99;99	ENSP00000278715:R116Q;ENSP00000438726:R110Q;ENSP00000444730:R99Q;ENSP00000443058:R99Q;ENSP00000445599:R90Q;ENSP00000438424:R116Q;ENSP00000445429:R98Q;ENSP00000440092:R99Q;ENSP00000442079:R99Q;ENSP00000376584:R99Q;ENSP00000392041:R99Q	ENSP00000392041:R99Q	R	+	2	0	CTD-2589C9.4;HMBS	118465912	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.563000	0.98148	2.941000	0.99782	0.655000	0.94253	CGG		0.493	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		A	118960702	G	A	118960702	3	1	332	1	0	0	0	0	1	0	0	0	7219	1116	39	1	373	1	HMBS	11	118960702	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	24428093	118960702	16045814	38	17792											
PFDN5	5204	genome.wustl.edu	37	12	53691830	53691830	+	Splice_Site	SNP	C	C	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr12:53691830C>G	ENST00000551018.1	+	5	561	c.284C>G	c.(283-285)aCa>aGa	p.T95R	PFDN5_ENST00000334478.4_Splice_Site_p.T95R|PFDN5_ENST00000351500.3_Splice_Site_p.T50R|PFDN5_ENST00000550846.1_Splice_Site_p.T25R|C12orf10_ENST00000548632.1_5'Flank|C12orf10_ENST00000267103.5_5'Flank|RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000549488.1_5'Flank	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	95					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						ATCTTGTAGACAGCTGAGGAT	0.488																																																0			12											225	229	228					12																	53691830		2203	4300	6503	51978097	SO:0001630	splice_region_variant	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"prefoldin 5"			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.283-1C>G	12.37:g.53691830C>G			51978097	A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	ENST00000551018.1	37	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992038	0.74703	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	T;T;T	0.49139	0.79;0.79;0.79	5.29	5.29	0.74685	Prefoldin (1);Prefoldin subunit (1);	0.100752	0.64402	D	0.000003	T	0.53254	0.1785	L	0.52266	1.64	0.46222	D	0.998936	P;P	0.51653	0.934;0.947	P;P	0.49637	0.617;0.526	T	0.54774	-0.8243	10	0.54805	T	0.06	.	16.8104	0.85717	0.0:1.0:0.0:0.0	.	50;95	Q9C083;Q99471	.;PFD5_HUMAN	R	95;50;95	ENSP00000447942:T95R;ENSP00000266964:T50R;ENSP00000334188:T95R	ENSP00000334188:T95R	T	+	2	0	PFDN5	51978097	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.488000	0.60300	2.652000	0.90054	0.555000	0.69702	ACA		0.488	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2		Missense_Mutation	G	53691830	C	G	53691830	5	3	332	1	0	0	0	0	0	0	1	0	11758	492	17	3	302	3	PFDN5	12	53691830	Splice_Site	SNP	C	TCGA-29-1702-01A-01W-0633-09		53691830	80160065	39	17793											
UNG	7374	genome.wustl.edu	37	12	109537068	109537068	+	Silent	SNP	C	C	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr12:109537068C>G	ENST00000242576.2	+	3	520	c.414C>G	c.(412-414)acC>acG	p.T138T	UNG_ENST00000336865.2_Silent_p.T129T	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCACCTGGACCCAGATGTGTG	0.358								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																							0			12											80	78	79					12																	109537068		2203	4300	6503	108021451	SO:0001819	synonymous_variant	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.414C>G	12.37:g.109537068C>G			108021451		Silent	SNP	ENST00000242576.2	37	CCDS9124.1																																																																																				0.358	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911		G	109537068	C	G	109537068	2	3	332	1	0	0	0	0	0	0	0	1	16999	610	22	3		3	UNG	12	109537068	Silent	SNP	C	TCGA-29-1702-01A-01W-0633-09	55845238	109537068	24314827	40	17794											
MVK	4598	genome.wustl.edu	37	12	110013871	110013871	+	Silent	SNP	G	G	A	rs104895327		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr12:110013871G>A	ENST00000228510.3	+	3	223	c.147G>A	c.(145-147)gtG>gtA	p.V49V	MVK_ENST00000535044.1_3'UTR|MMAB_ENST00000266839.5_5'Flank|MMAB_ENST00000540016.1_5'Flank|MMAB_ENST00000545712.2_5'Flank|MVK_ENST00000392727.3_Silent_p.V49V|MVK_ENST00000539696.1_Intron|MVK_ENST00000541384.1_5'UTR|MVK_ENST00000539575.1_Silent_p.V49V	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	49					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						ATGGGAAAGTGGACCTCAGCT	0.498																																																0			12											89	80	83					12																	110013871		2203	4300	6503	108498254	SO:0001819	synonymous_variant	4598			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.147G>A	12.37:g.110013871G>A			108498254		Silent	SNP	ENST00000228510.3	37	CCDS9132.1																																																																																				0.498	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		A	110013871	G	A	110013871	2	1	332	1	0	0	0	0	0	0	0	1	9995	1335	47	2		2	MVK	12	110013871	Silent	SNP	G	TCGA-29-1702-01A-01W-0633-09	476803	110013871	23838024	41	17795											
RPGRIP1	57096	genome.wustl.edu	37	14	21792899	21792899	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr14:21792899G>C	ENST00000400017.2	+	14	1885	c.1885G>C	c.(1885-1887)Gaa>Caa	p.E629Q	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E629Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E591Q|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	629					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAATCTTTTTGAACTGCACAT	0.498																																																0			14											132	126	128					14																	21792899		2027	4188	6215	20862739	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1885G>C	14.37:g.21792899G>C	ENSP00000382895:p.Glu629Gln		20862739	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458318	0.84317	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.95818	0.8847	10	0.72032	D	0.01	-22.7131	18.396	0.90499	0.0:0.0:1.0:0.0	.	12;104;245;629	Q96KN7-2;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	Q	591;629;629;104;91	ENSP00000451219:E591Q;ENSP00000382895:E629Q;ENSP00000206660:E629Q;ENSP00000451262:E104Q;ENSP00000450426:E91Q	ENSP00000206660:E629Q	E	+	1	0	RPGRIP1	20862739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.545000	0.90657	2.882000	0.98803	0.655000	0.94253	GAA		0.498	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		C	21792899	G	C	21792899	3	2	332	1	0	0	0	0	1	0	0	0	13552	1291	45	3	1939	3	RPGRIP1	14	21792899	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09		21792899	85556641	42	17796											
HAUS2	55142	genome.wustl.edu	37	15	42856052	42856052	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr15:42856052A>T	ENST00000260372.3	+	5	558	c.495A>T	c.(493-495)aaA>aaT	p.K165N	HAUS2_ENST00000568876.1_Missense_Mutation_p.K134N	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	165					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						ATCTAAAGAAAATGGTGAGTA	0.338																																																0			15											76	87	83					15																	42856052		2202	4297	6499	40643344	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"HAUS augmin-like complex subunits"	25530	protein-coding gene	gene with protein product		613429	"chromosome 15 open reading frame 25", "centrosomal protein 27kDa"	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.495A>T	15.37:g.42856052A>T	ENSP00000260372:p.Lys165Asn		40643344	C9JH36|Q9H9B3	Missense_Mutation	SNP	ENST00000260372.3	37	CCDS10090.1	.	.	.	.	.	.	.	.	.	.	A	5.416	0.261926	0.10239	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.47869	0.83	5.79	1.92	0.25849	.	0.408179	0.29473	N	0.012045	T	0.26448	0.0646	L	0.31926	0.97	0.27365	N	0.95584	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09122	-1.0689	10	0.13470	T	0.59	.	1.7802	0.03030	0.2946:0.3677:0.0892:0.2485	.	134;165	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	N	165;134	ENSP00000260372:K165N	ENSP00000260372:K165N	K	+	3	2	HAUS2	40643344	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.628000	0.24522	0.515000	0.28320	0.459000	0.35465	AAA		0.338	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253173.1	NM_018097		T	42856052	A	T	42856052	3	4	332	1	0	0	0	0	1	0	0	0	6966	11	1	5	513	5	HAUS2	15	42856052	Missense_Mutation	SNP	A	TCGA-29-1702-01A-01W-0633-09		42856052	59675340	43	17797											
RNF111	54778	genome.wustl.edu	37	15	59386983	59386983	+	Splice_Site	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr15:59386983C>T	ENST00000557998.1	+	14	3156	c.2869C>T	c.(2869-2871)Cgt>Tgt	p.R957C	RNF111_ENST00000434298.1_Splice_Site_p.R966C|RNF111_ENST00000560080.1_3'UTR|RNF111_ENST00000348370.4_Splice_Site_p.R949C|RNF111_ENST00000559209.1_Splice_Site_p.R958C|RNF111_ENST00000561186.1_Splice_Site_p.R966C	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	957					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CAATAATAGACGTCTTCCATG	0.338																																					NSCLC(72;983 1365 10746 34387 47081)											0			15											139	130	133					15																	59386983		2192	4291	6483	57174275	SO:0001630	splice_region_variant	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2868-1C>T	15.37:g.59386983C>T			57174275	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010879	0.75046	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.47869	0.83;0.83	5.86	5.86	0.93980	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.054330	0.85682	D	0.000000	T	0.65933	0.2739	L	0.58969	1.84	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	P;P;P	0.62813	0.863;0.887;0.907	T	0.66408	-0.5931	10	0.87932	D	0	-16.3592	20.1931	0.98233	0.0:1.0:0.0:0.0	.	966;957;949	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	C	949;966	ENSP00000288199:R949C;ENSP00000393641:R966C	ENSP00000288199:R949C	R	+	1	0	RNF111	57174275	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	5.954000	0.70298	2.771000	0.95319	0.563000	0.77884	CGT		0.338	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	Missense_Mutation	T	59386983	C	T	59386983	5	4	332	1	0	0	0	0	0	0	1	0	13428	550	19	1	2895	1	RNF111	15	59386983	Splice_Site	SNP	C	TCGA-29-1702-01A-01W-0633-09	16530931	59386983	43144409	44	17798											
SH3GL3	6457	genome.wustl.edu	37	15	84237359	84237359	+	Missense_Mutation	SNP	C	C	T	rs201410848		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr15:84237359C>T	ENST00000427482.2	+	4	572	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SH3GL3_ENST00000434347.1_Missense_Mutation_p.T97M|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T97M|SH3GL3_ENST00000535412.1_Missense_Mutation_p.T89M	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	89	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TACCCGCAGACGGAAGGCTTG	0.507													C|||	1	0.000199681	0	0.0014	5008	,	,		16509	0		0	False		,,,				2504	0															0			15											83	83	83					15																	84237359		2203	4300	6503	82028363	SO:0001583	missense	6457			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.266C>T	15.37:g.84237359C>T	ENSP00000391372:p.Thr89Met		82028363	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.6	4.433110	0.83776	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.86	4.86	0.63082	BAR (3);	0.107920	0.64402	D	0.000007	T	0.78130	0.4235	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.68943	0.927;0.961;0.954	T	0.78984	-0.1988	10	0.45353	T	0.12	-26.0409	17.3782	0.87398	0.0:1.0:0.0:0.0	.	89;89;97	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	M	89;89;97;97	ENSP00000391372:T89M;ENSP00000439239:T89M;ENSP00000320092:T97M;ENSP00000397871:T97M	ENSP00000320092:T97M	T	+	2	0	SH3GL3	82028363	1.000000	0.71417	0.896000	0.35187	0.902000	0.53008	7.445000	0.80570	2.402000	0.81655	0.544000	0.68410	ACG		0.507	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		T	84237359	C	T	84237359	3	4	332	1	0	0	0	0	1	0	0	0	14255	536	19	1	280	1	SH3GL3	15	84237359	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09	24850376	84237359	18294033	45	17799											
PRKCB	5579	genome.wustl.edu	37	16	23848721	23848721	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr16:23848721T>A	ENST00000321728.7	+	2	374	c.199T>A	c.(199-201)Tgc>Agc	p.C67S	PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000303531.7_Missense_Mutation_p.C67S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	67					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)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GGGATTCCAGTGCCAAGGTAG	0.532																																																0			16											107	117	114					16																	23848721		2197	4300	6497	23756222	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.199T>A	16.37:g.23848721T>A	ENSP00000318315:p.Cys67Ser		23756222	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861939	0.91433	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.99891	-7.56;-7.56	4.88	4.88	0.63580	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.138090	0.49916	D	0.000139	D	0.99914	0.9959	H	0.99922	4.955	0.80722	D	1	P;P	0.40000	0.648;0.698	B;P	0.48524	0.444;0.58	D	0.95213	0.8327	10	0.72032	D	0.01	.	12.7251	0.57166	0.0:0.0:0.0:1.0	.	67;67	P05771-2;P05771	.;KPCB_HUMAN	S	67	ENSP00000318315:C67S;ENSP00000305355:C67S	ENSP00000305355:C67S	C	+	1	0	PRKCB	23756222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.368000	0.79567	1.940000	0.56252	0.533000	0.62120	TGC		0.532	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		A	23848721	T	A	23848721	3	1	332	1	0	0	0	0	1	0	0	0	12511	1696	59	5	205	5	PRKCB	16	23848721	Missense_Mutation	SNP	T	TCGA-29-1702-01A-01W-0633-09		23848721	66506032	46	17800											
TRPV3	162514	genome.wustl.edu	37	17	3430171	3430171	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:3430171C>T	ENST00000576742.1	-	12	1875	c.1554G>A	c.(1552-1554)tcG>tcA	p.S518S	TRPV3_ENST00000572519.1_Silent_p.S518S|TRPV3_ENST00000301365.4_Silent_p.S518S	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	518					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ACCAGGCATCCGAGAGGATGG	0.572																																																0			17											144	88	107					17																	3430171		2203	4300	6503	3376921	SO:0001819	synonymous_variant	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1554G>A	17.37:g.3430171C>T			3376921	Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	CCDS11029.1																																																																																				0.572	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		T	3430171	C	T	3430171	2	4	332	1	0	0	0	0	0	0	0	1	16597	639	23	1		1	TRPV3	17	3430171	Silent	SNP	C	TCGA-29-1702-01A-01W-0633-09		3430171	77765039	47	17801											
TP53	7157	genome.wustl.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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"	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM942135	TP53	M	rs148924904						53	54	53					17																	7578442		2203	4300	6503	7519167	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys		7519167	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	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578442	T	C	7578442	3	2	332	1	0	0	0	0	1	0	0	0	16381	1638	57	4	810	4	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-29-1702-01A-01W-0633-09	4148271	7578442	73616768	48	17802											
PFAS	5198	genome.wustl.edu	37	17	8170199	8170199	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:8170199G>T	ENST00000314666.6	+	23	3083	c.2950G>T	c.(2950-2952)Gcc>Tcc	p.A984S	PFAS_ENST00000545834.1_Missense_Mutation_p.A560S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	984					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CACAGGCGAGGCCGGGCCCCA	0.682																																																0			17											36	31	33					17																	8170199		2203	4299	6502	8110924	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2950G>T	17.37:g.8170199G>T	ENSP00000313490:p.Ala984Ser		8110924	A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	2.606	-0.291797	0.05568	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.27104	1.69;1.69	5.24	-0.966	0.10320	AIR synthase-related protein, C-terminal (2);	0.276024	0.36034	N	0.002824	T	0.11024	0.0269	N	0.12961	0.28	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.12811	-1.0533	10	0.59425	D	0.04	-1.8473	2.7947	0.05398	0.1641:0.3795:0.3231:0.1332	.	984;984	A8K8N7;O15067	.;PUR4_HUMAN	S	560;984;393	ENSP00000441706:A560S;ENSP00000313490:A984S	ENSP00000313490:A984S	A	+	1	0	PFAS	8110924	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.481000	0.22260	0.009000	0.14813	0.561000	0.74099	GCC		0.682	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			T	8170199	G	T	8170199	3	4	332	1	0	0	0	0	1	0	0	0	11754	1203	42	3	3036	3	PFAS	17	8170199	Missense_Mutation	SNP	G	TCGA-29-1702-01A-01W-0633-09	591757	8170199	73025011	49	17803											
ARHGEF15	22899	genome.wustl.edu	37	17	8215564	8215564	+	Silent	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:8215564C>T	ENST00000361926.3	+	2	317	c.207C>T	c.(205-207)tcC>tcT	p.S69S	ARHGEF15_ENST00000421050.1_Silent_p.S69S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	69	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGCTGCATCCCTCAAGCCCC	0.602																																																0			17											84	82	82					17																	8215564		2203	4300	6503	8156289	SO:0001819	synonymous_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.207C>T	17.37:g.8215564C>T			8156289	A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	6.098	0.386436	0.11524	.	.	ENSG00000198844	ENST00000455564	.	.	.	5.01	1.77	0.24775	.	.	.	.	.	T	0.60025	0.2237	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59904	-0.7366	5	0.66056	D	0.02	-27.7357	5.9542	0.19263	0.0:0.6694:0.0:0.3306	.	.	.	.	L	31	.	ENSP00000413324:P31L	P	+	2	0	ARHGEF15	8156289	0.969000	0.33509	0.993000	0.49108	0.682000	0.39822	0.978000	0.29488	0.729000	0.32403	0.555000	0.69702	CCC		0.602	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		T	8215564	C	T	8215564	2	4	332	1	0	0	0	0	0	0	0	1	898	610	22	2		2	ARHGEF15	17	8215564	Silent	SNP	C	TCGA-29-1702-01A-01W-0633-09	45365	8215564	72979646	50	17804											
AOC3	8639	genome.wustl.edu	37	17	41004345	41004345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:41004345C>T	ENST00000308423.2	+	1	1145	c.985C>T	c.(985-987)Cga>Tga	p.R329*	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	329			R -> Q (in dbSNP:rs2229595).		amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCAGGGAAGTCGAGTGGCCTC	0.582																																					NSCLC(3;192 220 10664 11501 16477)											0			17											46	50	49					17																	41004345		2203	4300	6503	38257871	SO:0001587	stop_gained	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.985C>T	17.37:g.41004345C>T	ENSP00000312326:p.Arg329*		38257871	B2RCI5|K7ESB3|L0L8N9|Q45F94	Nonsense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497112	0.85069	.	.	ENSG00000131471	ENST00000308423	.	.	.	4.26	3.29	0.37713	.	0.386207	0.27072	N	0.021064	.	.	.	.	.	.	0.21740	N	0.999565	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	12.2139	0.54396	0.0:0.9167:0.0:0.0833	.	.	.	.	X	329	.	ENSP00000312326:R329X	R	+	1	2	AOC3	38257871	0.001000	0.12720	0.007000	0.13788	0.605000	0.37080	1.365000	0.34182	1.176000	0.42840	0.491000	0.48974	CGA		0.582	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		T	41004345	C	T	41004345	4	4	332	1	0	0	0	0	0	1	0	0	728	876	31	1	987	1	AOC3	17	41004345	Nonsense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09	32788781	41004345	40190865	51	17805											
KIF18B	146909	genome.wustl.edu	37	17	43008997	43008997	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr17:43008997C>T	ENST00000593135.1	-	11	1587	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	KIF18B_ENST00000438933.2_Missense_Mutation_p.R509Q|KIF18B_ENST00000590129.1_Missense_Mutation_p.R518Q|KIF18B_ENST00000587309.1_Missense_Mutation_p.R509Q|KIF18B_ENST00000339151.4_Missense_Mutation_p.R509Q	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	518					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCCAGTTCCCGTGCTGAGAA	0.577																																																0			17											100	103	102					17																	43008997		1991	4173	6164	40364523	SO:0001583	missense	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1490G>A	17.37:g.43008997C>T	ENSP00000465992:p.Arg497Gln		40364523	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	1.480	-0.557477	0.03967	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.63096	-0.02;-0.02	4.52	-2.3	0.06785	.	.	.	.	.	T	0.15652	0.0377	N	0.00138	-2.015	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38001	-0.9681	9	0.02654	T	1	.	4.7268	0.12945	0.0:0.3013:0.3543:0.3444	.	518;506;518	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	Q	509	ENSP00000412798:R509Q;ENSP00000341466:R509Q	ENSP00000341466:R509Q	R	-	2	0	KIF18B	40364523	0.003000	0.15002	0.003000	0.11579	0.006000	0.05464	-0.427000	0.06999	-0.263000	0.09378	-0.238000	0.12139	CGG		0.577	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		T	43008997	C	T	43008997	3	4	332	1	0	0	0	0	1	0	0	0	8281	652	23	1	1064	1	KIF18B	17	43008997	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09	2004652	43008997	38186213	52	17806											
ZNF439	90594	genome.wustl.edu	37	19	11977141	11977141	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr19:11977141C>G	ENST00000304030.2	+	1	370	c.170C>G	c.(169-171)tCt>tGt	p.S57C	ZNF439_ENST00000455282.1_Intron|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AACCTGACCTCTATAGGTAAG	0.448																																																0			19											129	131	130					19																	11977141		2203	4300	6503	11838141	SO:0001583	missense	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.170C>G	19.37:g.11977141C>G	ENSP00000305077:p.Ser57Cys		11838141	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	c	8.420	0.846112	0.16963	.	.	ENSG00000171291	ENST00000442091;ENST00000304030	T;T	0.03272	3.99;3.99	0.575	0.575	0.17374	Krueppel-associated box (4);	.	.	.	.	T	0.15565	0.0375	M	0.84585	2.705	0.23754	N	0.996933	D	0.89917	1.0	D	0.81914	0.995	T	0.08868	-1.0701	8	0.29301	T	0.29	.	.	.	.	.	57	Q8NDP4	ZN439_HUMAN	C	44;57	ENSP00000388234:S44C;ENSP00000305077:S57C	ENSP00000305077:S57C	S	+	2	0	ZNF439	11838141	0.000000	0.05858	0.045000	0.18777	0.133000	0.20885	-0.002000	0.12924	0.577000	0.29470	0.194000	0.17425	TCT		0.448	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			G	11977141	C	G	11977141	3	3	332	1	0	0	0	0	1	0	0	0	17911	913	32	3	172	3	ZNF439	19	11977141	Missense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09		11977141	47151842	53	17807											
ASXL1	171023	genome.wustl.edu	37	20	31017224	31017224	+	Silent	SNP	A	A	G			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr20:31017224A>G	ENST00000375687.4	+	7	979	c.555A>G	c.(553-555)gaA>gaG	p.E185E	ASXL1_ENST00000306058.5_Silent_p.E180E|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	185	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCCACGTGGAATCTGCATCAG	0.512			"F, N, Mis"		"MDS, CMML"																																		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											90	86	88					20																	31017224		2203	4300	6503	30480885	SO:0001819	synonymous_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.555A>G	20.37:g.31017224A>G			30480885	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																				0.512	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		G	31017224	A	G	31017224	2	3	332	1	0	0	0	0	0	0	0	1	1066	98	4	4		4	ASXL1	20	31017224	Silent	SNP	A	TCGA-29-1702-01A-01W-0633-09		31017224	32008296	54	17808											
RALGAPB	57148	genome.wustl.edu	37	20	37168471	37168472	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	GC	GC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr20:37168471_37168472delGC	ENST00000262879.6	+	17	2716_2717	c.2432_2433delGC	c.(2431-2433)tgcfs	p.C811fs	RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.C589fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.C807fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.C811fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	811					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTTCTGTGTGCACCTACATTG	0.47																																																0			20																																								36601886	SO:0001589	frameshift_variant	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2432_2433delGC	20.37:g.37168471_37168472delGC	ENSP00000262879:p.Cys811fs		36601885	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	ENST00000262879.6	37	CCDS13305.1																																																																																				0.47	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		-	37168472	GC	-	37168471	7	5	332	1	0	1	0	1	0	0	0	0	13018	1319	46	0	2494	0	RALGAPB	20	37168471	Frame_Shift_Del	DEL	GC	TCGA-29-1702-01A-01W-0633-09	6151247	37168471	25857049	55	17809											
PCK1	5105	genome.wustl.edu	37	20	56139415	56139415	+	Silent	SNP	G	G	A	rs141878699	byFrequency	TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr20:56139415G>A	ENST00000319441.4	+	7	1316	c.1152G>A	c.(1150-1152)acG>acA	p.T384T	PCK1_ENST00000535860.1_Silent_p.T252T|PCK1_ENST00000543666.1_Silent_p.T67T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	384					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCACCATCACGTCCTGGAAGA	0.572													G|||	3	0.000599042	0	0.0043	5008	,	,		19535	0		0	False		,,,				2504	0															0			20						G		3,4403	6.2+/-15.9	0,3,2200	88	79	82		1152	-10.4	0.6	20	dbSNP_134	82	12,8588	8.4+/-32.0	0,12,4288	no	coding-synonymous	PCK1	NM_002591.3		0,15,6488	AA,AG,GG		0.1395,0.0681,0.1153		384/623	56139415	15,12991	2203	4300	6503	55572821	SO:0001819	synonymous_variant	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1152G>A	20.37:g.56139415G>A			55572821	A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	CCDS13460.1																																																																																				0.572	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			A	56139415	G	A	56139415	2	1	332	1	0	0	0	0	0	0	0	1	11581	1132	40	1		1	PCK1	20	56139415	Silent	SNP	G	TCGA-29-1702-01A-01W-0633-09	18970944	56139415	6886105	56	17810											
TH1L	51497	genome.wustl.edu	37	20	57566367	57566367	+	Splice_Site	SNP	A	A	G	rs534907805		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr20:57566367A>G	ENST00000344018.3	+	9	1009	c.982A>G	c.(982-984)Atc>Gtc	p.I328V	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000602795.1_Splice_Site_p.I337V			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	328					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											TTCTCCTCAGATCCGCGTTCC	0.582													A|||	1	0.000199681	8e-04	0	5008	,	,		20669	0		0	False		,,,				2504	0															0			20											129	119	122					20																	57566367		2203	4300	6503	56999762	SO:0001630	splice_region_variant	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.982-1A>G	20.37:g.57566367A>G			56999762	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37		.	.	.	.	.	.	.	.	.	.	A	16.33	3.091944	0.55968	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.39	5.39	0.77823	.	0.095855	0.64402	N	0.000001	T	0.81138	0.4760	M	0.80616	2.505	0.58432	D	0.999999	P;B	0.40032	0.699;0.0	P;B	0.58130	0.833;0.003	T	0.80448	-0.1378	9	0.39692	T	0.17	-33.0608	15.6153	0.76760	1.0:0.0:0.0:0.0	.	337;328	E1P5H4;Q8IXH7	.;NELFD_HUMAN	V	328	.	ENSP00000342300:I328V	I	+	1	0	TH1L	56999762	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.308000	0.78929	2.276000	0.75962	0.524000	0.50904	ATC		0.582	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976	Missense_Mutation	G	57566367	A	G	57566367	5	3	332	1	0	0	0	0	0	0	1	0	15839	347	12	4	1016	4	TH1L	20	57566367	Splice_Site	SNP	A	TCGA-29-1702-01A-01W-0633-09	1426952	57566367	5459153	57	17811											
HIRA	7290	genome.wustl.edu	37	22	19341597	19341597	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chr22:19341597T>A	ENST00000263208.5	-	22	2862	c.2606A>T	c.(2605-2607)gAc>gTc	p.D869V	HIRA_ENST00000340170.4_Missense_Mutation_p.D662V|HIRA_ENST00000541063.1_Missense_Mutation_p.D825V|HIRA_ENST00000546308.1_Missense_Mutation_p.T790S	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	869	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTCCTAAAGTCTGCACACTG	0.572																																																0			22											100	72	81					22																	19341597		2203	4300	6503	17721597	SO:0001583	missense	7290			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2606A>T	22.37:g.19341597T>A	ENSP00000263208:p.Asp869Val		17721597	Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	CCDS13759.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.654265|4.654265	0.88056|0.88056	.|.	.|.	ENSG00000100084|ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600|ENST00000546308	T;T;T|T	0.73897|0.68181	-0.51;-0.79;-0.64|-0.31	5.32|5.32	5.32|5.32	0.75619|0.75619	TUP1-like enhancer of split (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73225|0.73225	0.3560|0.3560	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.999;0.997;0.999|.	T|T	0.69465|0.69465	-0.5138|-0.5138	10|7	0.17369|0.09590	T|T	0.5|0.72	-21.493|-21.493	15.4344|15.4344	0.75133|0.75133	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	825;662;869|.	F5H4M2;P54198-2;P54198|.	.;.;HIRA_HUMAN|.	V|S	662;869;825;378|790	ENSP00000345350:D662V;ENSP00000263208:D869V;ENSP00000446073:D825V|ENSP00000441870:T790S	ENSP00000263208:D869V|ENSP00000441870:T790S	D|T	-|-	2|1	0|0	HIRA|HIRA	17721597|17721597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.076000|7.076000	0.76806|0.76806	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	GAC|ACT		0.572	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		A	19341597	T	A	19341597	3	1	332	1	0	0	0	0	1	0	0	0	7120	1667	58	5	463	5	HIRA	22	19341597	Missense_Mutation	SNP	T	TCGA-29-1702-01A-01W-0633-09		19341597	31962969	58	17812											
FGD1	2245	genome.wustl.edu	37	X	54475610	54475629	+	Frame_Shift_Del	DEL	GTGATAGAATTGAAGGGCTC	GTGATAGAATTGAAGGGCTC	-	rs202213679		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	GTGATAGAATTGAAGGGCTC	GTGATAGAATTGAAGGGCTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chrX:54475610_54475629delGTGATAGAATTGAAGGGCTC	ENST00000375135.3	-	15	2954_2973	c.2221_2240delGAGCCCTTCAATTCTATCAC	c.(2221-2241)gagcccttcaattctatcaccfs	p.EPFNSIT741fs		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	741					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTGCGTTTGGTGATAGAATTGAAGGGCTCCTGGCAGCGC	0.609																																																0			X	GRCh37	CM061768	FGD1	M																																				54492354	SO:0001589	frameshift_variant	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2221_2240delGAGCCCTTCAATTCTATCAC	X.37:g.54475610_54475629delGTGATAGAATTGAAGGGCTC	ENSP00000364277:p.Glu741fs		54492335	Q5H999|Q8N4D9	Frame_Shift_Del	DEL	ENST00000375135.3	37	CCDS14359.1																																																																																				0.609	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		-	54475629	GTGATAGAATTGAAGGGCTC	-	54475610	7	5	332	1	0	1	0	1	0	0	0	0	5832	1261	44	0	661	0	FGD1	23	54475610	Frame_Shift_Del	DEL	GTGATAGAATTGAAGGGCTC	TCGA-29-1702-01A-01W-0633-09		54475610	100794950	59	17813											
OPN1LW	5956	genome.wustl.edu	37	X	153421876	153421876	+	Nonsense_Mutation	SNP	C	C	A	rs191331006		TCGA-29-1702-01A-01W-0633-09	TCGA-29-1702-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dc477882-35a0-48b5-adae-bef3daa66a7e	32415507-e658-47c9-aa9e-bc901ed7d972	g.chrX:153421876C>A	ENST00000369951.4	+	5	912	c.852C>A	c.(850-852)taC>taA	p.Y284*		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	284					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGACCCTACACCTTCTTCG	0.552																																																0			X											470	384	413					X																	153421876		2196	4270	6466	153075070	SO:0001587	stop_gained	5956			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.852C>A	X.37:g.153421876C>A	ENSP00000358967:p.Tyr284*		153075070		Nonsense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790721	0.50102	.	.	ENSG00000102076	ENST00000369951	.	.	.	4.57	1.14	0.20703	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0429	0.19744	0.0:0.3528:0.0:0.6472	.	.	.	.	X	284	.	ENSP00000358967:Y284X	Y	+	3	2	OPN1LW	153075070	0.001000	0.12720	0.996000	0.52242	0.623000	0.37688	-0.028000	0.12350	0.300000	0.22699	0.436000	0.28706	TAC		0.552	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		A	153421876	C	A	153421876	4	1	332	1	0	0	0	0	0	1	0	0	10877	489	17	3	870	3	OPN1LW	23	153421876	Nonsense_Mutation	SNP	C	TCGA-29-1702-01A-01W-0633-09	98946266	153421876	1848684	60	17814											
DNAJC6	9829	genome.wustl.edu	37	1	65871792	65871792	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr1:65871792C>T	ENST00000395325.3	+	16	2453	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	DNAJC6_ENST00000371069.4_Missense_Mutation_p.R823C|DNAJC6_ENST00000263441.7_Missense_Mutation_p.R753C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	766					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCAGAACGAACGTGGGAAAGG	0.542																																																0			1											122	119	120					1																	65871792		2203	4300	6503	65644380	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2296C>T	1.37:g.65871792C>T	ENSP00000378735:p.Arg766Cys		65644380	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964640	0.53507	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	T;T;T	0.22945	1.93;1.93;1.93	4.84	4.84	0.62591	Heat shock protein DnaJ, N-terminal (1);	0.207947	0.41500	D	0.000866	T	0.41558	0.1164	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.976	T	0.32214	-0.9915	10	0.59425	D	0.04	.	13.1496	0.59482	0.1597:0.8403:0.0:0.0	.	823;766	O75061-2;O75061	.;AUXI_HUMAN	C	753;766;823	ENSP00000263441:R753C;ENSP00000378735:R766C;ENSP00000360108:R823C	ENSP00000263441:R753C	R	+	1	0	DNAJC6	65644380	0.997000	0.39634	0.986000	0.45419	0.379000	0.30106	3.144000	0.50616	2.496000	0.84212	0.561000	0.74099	CGT		0.542	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			T	65871792	C	T	65871792	3	4	333	1	0	0	0	0	1	0	0	0	4653	536	19	1	2358	1	DNAJC6	1	65871792	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09		65871792	183378829	1	17815											
HRNR	388697	genome.wustl.edu	37	1	152193842	152193842	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr1:152193842A>T	ENST00000368801.2	-	3	338	c.263T>A	c.(262-264)aTc>aAc	p.I88N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	88					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGCCAATGATTTTATTACG	0.398																																																0			1											158	128	138					1																	152193842		2203	4300	6503	150460466	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.263T>A	1.37:g.152193842A>T	ENSP00000357791:p.Ile88Asn		150460466	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	A	8.127	0.782154	0.16189	.	.	ENSG00000197915	ENST00000368801	T	0.06768	3.26	4.97	3.86	0.44501	EF-hand-like domain (1);	.	.	.	.	T	0.06645	0.0170	L	0.52364	1.645	0.25118	N	0.990663	D	0.54207	0.965	P	0.51742	0.678	T	0.22591	-1.0212	9	0.72032	D	0.01	.	6.8161	0.23831	0.8989:0.0:0.1011:0.0	.	88	Q86YZ3	HORN_HUMAN	N	88	ENSP00000357791:I88N	ENSP00000357791:I88N	I	-	2	0	HRNR	150460466	0.477000	0.25909	0.964000	0.40570	0.059000	0.15707	1.203000	0.32284	2.220000	0.72140	0.443000	0.29094	ATC		0.398	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152193842	A	T	152193842	3	4	333	1	0	0	0	0	1	0	0	0	7359	333	12	5	8293	5	HRNR	1	152193842	Missense_Mutation	SNP	A	TCGA-29-1703-01A-01W-0633-09	86322050	152193842	97056779	2	17816											
SPTA1	6708	genome.wustl.edu	37	1	158622341	158622341	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr1:158622341C>G	ENST00000368147.4	-	23	3471	c.3291G>C	c.(3289-3291)tgG>tgC	p.W1097C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1097					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTCTTGAATCCATTCCAGCA	0.448																																																0			1											149	138	142					1																	158622341		1917	4125	6042	156888965	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3291G>C	1.37:g.158622341C>G	ENSP00000357129:p.Trp1097Cys		156888965	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929687	0.73327	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.70749	-0.51;-0.51	5.21	5.21	0.72293	.	0.000000	0.30410	N	0.009696	D	0.83478	0.5263	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85394	0.1127	10	0.87932	D	0	.	17.5012	0.87732	0.0:1.0:0.0:0.0	.	1097	P02549	SPTA1_HUMAN	C	1097	ENSP00000357130:W1097C;ENSP00000357129:W1097C	ENSP00000357129:W1097C	W	-	3	0	SPTA1	156888965	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.621000	0.74228	2.722000	0.93159	0.591000	0.81541	TGG		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158622341	C	G	158622341	3	3	333	1	0	0	0	0	1	0	0	0	15118	856	30	3	4088	3	SPTA1	1	158622341	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	6428499	158622341	90628280	3	17817											
SELP	6403	genome.wustl.edu	37	1	169572292	169572292	+	Silent	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr1:169572292G>A	ENST00000263686.6	-	10	1714	c.1677C>T	c.(1675-1677)cgC>cgT	p.R559R	SELP_ENST00000367786.2_Silent_p.R497R|SELP_ENST00000367788.2_Silent_p.R497R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367791.2_Silent_p.R435R|SELP_ENST00000367794.2_Silent_p.R497R|SELP_ENST00000367793.2_Silent_p.R497R|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	559	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AGTCTGTCCAGCGTCCCGATC	0.443																																																0			1											101	93	96					1																	169572292		2203	4300	6503	167838916	SO:0001819	synonymous_variant	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1677C>T	1.37:g.169572292G>A			167838916	Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	CCDS1282.1																																																																																				0.443	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		A	169572292	G	A	169572292	2	1	333	1	0	0	0	0	0	0	0	1	14022	958	34	2		2	SELP	1	169572292	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09	10949951	169572292	79678329	4	17818											
CFH	3075	genome.wustl.edu	37	1	196709865	196709865	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr1:196709865G>T	ENST00000367429.4	+	18	3139	c.2899G>T	c.(2899-2901)Ggg>Tgg	p.G967W		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	967	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGAATTGATGGGCCTGCAAT	0.363																																																0			1											149	140	143					1																	196709865		2203	4300	6503	194976488	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2899G>T	1.37:g.196709865G>T	ENSP00000356399:p.Gly967Trp		194976488	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	14.58	2.577279	0.45902	.	.	ENSG00000000971	ENST00000367429	T	0.73469	-0.75	6.16	6.16	0.99307	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.92143	0.7509	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94488	0.7699	9	0.87932	D	0	.	16.3599	0.83257	0.0:0.0:1.0:0.0	.	967	P08603	CFAH_HUMAN	W	967	ENSP00000356399:G967W	ENSP00000356399:G967W	G	+	1	0	CFH	194976488	0.998000	0.40836	0.262000	0.24481	0.012000	0.07955	4.617000	0.61204	2.937000	0.99478	0.650000	0.86243	GGG		0.363	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		T	196709865	G	T	196709865	3	4	333	1	0	0	0	0	1	0	0	0	3283	1348	47	3	2987	3	CFH	1	196709865	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	27137573	196709865	52540756	5	17819											
SLC26A9	115019	genome.wustl.edu	37	1	205897033	205897033	+	Silent	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr1:205897033G>A	ENST00000367135.3	-	9	1211	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N	SLC26A9_ENST00000340781.4_Silent_p.N366N|SLC26A9_ENST00000367134.2_Silent_p.N366N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	366					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAGCTACCTGGTTCGAATCCA	0.602																																																0			1											116	100	106					1																	205897033		2203	4300	6503	204163656	SO:0001819	synonymous_variant	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1098C>T	1.37:g.205897033G>A			204163656	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	CCDS30990.1																																																																																				0.602	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		A	205897033	G	A	205897033	2	1	333	1	0	0	0	0	0	0	0	1	14527	1252	44	2		2	SLC26A9	1	205897033	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09	9187168	205897033	43353588	6	17820											
SUSD4	55061	genome.wustl.edu	37	1	223441997	223441997	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr1:223441997C>T	ENST00000343846.3	-	3	1015	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	SUSD4_ENST00000494793.2_Missense_Mutation_p.E128K|SUSD4_ENST00000366878.4_Missense_Mutation_p.E128K|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.E128K|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.E57K			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	128	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TCAGCATCTTCGATTTGAGGG	0.383																																																0			1											185	159	168					1																	223441997		2203	4300	6503	221508620	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.382G>A	1.37:g.223441997C>T	ENSP00000344219:p.Glu128Lys		221508620	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186341	0.78789	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029	T;T;T	0.63913	-0.07;-0.07;-0.07	5.91	5.91	0.95273	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.49916	D	0.000140	T	0.73442	0.3587	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.98;0.998	T	0.73569	-0.3941	10	0.59425	D	0.04	-24.9472	19.2811	0.94053	0.0:1.0:0.0:0.0	.	57;128;128	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	K	128;128;57;128;128	ENSP00000344219:E128K;ENSP00000355843:E128K;ENSP00000339926:E128K	ENSP00000271787:E128K	E	-	1	0	SUSD4	221508620	1.000000	0.71417	0.965000	0.40720	0.982000	0.71751	5.924000	0.70054	2.802000	0.96397	0.650000	0.86243	GAA		0.383	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		T	223441997	C	T	223441997	3	4	333	1	0	0	0	0	1	0	0	0	15410	893	31	1	1267	1	SUSD4	1	223441997	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	17544964	223441997	25808624	7	17821											
SUSD4	55061	genome.wustl.edu	37	1	223465980	223465980	+	Silent	SNP	A	A	G			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr1:223465980A>G	ENST00000343846.3	-	2	795	c.162T>C	c.(160-162)ctT>ctC	p.L54L	SUSD4_ENST00000494793.2_Silent_p.L54L|SUSD4_ENST00000366878.4_Silent_p.L54L|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Silent_p.L54L|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000484758.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	54						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CACACACTTGAAGGTCATCGA	0.517																																																0			1											54	60	58					1																	223465980		2203	4300	6503	221532603	SO:0001819	synonymous_variant	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.162T>C	1.37:g.223465980A>G			221532603	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	CCDS41471.1																																																																																				0.517	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		G	223465980	A	G	223465980	2	3	333	1	0	0	0	0	0	0	0	1	15410	233	9	4		4	SUSD4	1	223465980	Silent	SNP	A	TCGA-29-1703-01A-01W-0633-09	23983	223465980	25784641	8	17822											
CDC42BPA	8476	genome.wustl.edu	37	1	227261714	227261714	+	Splice_Site	SNP	C	C	G			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr1:227261714C>G	ENST00000366769.3	-	19	3878		c.e19-1		CDC42BPA_ENST00000535525.1_Splice_Site|CDC42BPA_ENST00000366765.3_Splice_Site|CDC42BPA_ENST00000366767.3_Splice_Site|CDC42BPA_ENST00000488131.1_Splice_Site|CDC42BPA_ENST00000366764.2_Splice_Site|CDC42BPA_ENST00000366766.2_Splice_Site|CDC42BPA_ENST00000334218.5_Splice_Site	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGGGCATATCCTATGAAATAA	0.378																																																0			1											121	120	120					1																	227261714		2203	4300	6503	225328337	SO:0001630	splice_region_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2587-1G>C	1.37:g.227261714C>G			225328337		Splice_Site	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353069	0.82132	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000448940;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000442054;ENST00000535525;ENST00000366765;ENST00000441725	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC42BPA	225328337	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.378000	0.79679	2.683000	0.91414	0.655000	0.94253	.		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	Intron	G	227261714	C	G	227261714	5	3	333	1	0	0	0	0	0	0	1	0	3072	695	24	3	2645	3	CDC42BPA	1	227261714	Splice_Site	SNP	C	TCGA-29-1703-01A-01W-0633-09	3795734	227261714	21988907	9	17823											
MYT1L	23040	genome.wustl.edu	37	2	1926808	1926808	+	Silent	SNP	G	G	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr2:1926808G>T	ENST00000399161.2	-	10	1480	c.733C>A	c.(733-735)Cgg>Agg	p.R245R	MYT1L_ENST00000428368.2_Silent_p.R245R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	245					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R245R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCACTTTTCCGACCCAGGTTT	0.468																																																1	Substitution - coding silent(1)	lung(1)	2											171	160	163					2																	1926808		1896	4121	6017	1905815	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.733C>A	2.37:g.1926808G>T			1905815	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																					0.468	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1926808	G	T	1926808	2	4	333	1	0	0	0	0	0	0	0	1	10107	1057	37	3		3	MYT1L	2	1926808	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09		1926808	241272565	10	17824											
NFU1	27247	genome.wustl.edu	37	2	69627565	69627565	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr2:69627565G>C	ENST00000410022.2	-	7	856	c.651C>G	c.(649-651)atC>atG	p.I217M	NFU1_ENST00000462320.1_Missense_Mutation_p.I76M|NFU1_ENST00000394305.1_Missense_Mutation_p.I76M|NFU1_ENST00000471185.1_Intron|NFU1_ENST00000303698.3_Missense_Mutation_p.I193M	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	217	NifU.				iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TCAGAGTAATGATTGAACTAG	0.418																																																0			2											158	151	154					2																	69627565		2203	4300	6503	69481069	SO:0001583	missense	27247			AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"HIRA interacting protein 5", "NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.651C>G	2.37:g.69627565G>C	ENSP00000387219:p.Ile217Met		69481069	B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422301	0.43020	.	.	ENSG00000169599	ENST00000410022;ENST00000303698;ENST00000394305;ENST00000462320;ENST00000450796;ENST00000484177	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.19	4.3	0.51218	NIF system FeS cluster assembly, NifU, C-terminal (2);	0.045788	0.85682	N	0.000000	T	0.67382	0.2887	N	0.21282	0.65	0.54753	D	0.99998	B;B	0.32467	0.321;0.372	B;B	0.39771	0.187;0.309	T	0.69993	-0.4994	10	0.59425	D	0.04	-8.7191	15.0518	0.71877	0.0:0.1424:0.8576:0.0	.	193;217	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	M	217;193;76;76;76;76	ENSP00000387219:I217M;ENSP00000306965:I193M;ENSP00000377842:I76M;ENSP00000418598:I76M;ENSP00000415102:I76M;ENSP00000417693:I76M	ENSP00000306965:I193M	I	-	3	3	NFU1	69481069	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.592000	0.46171	1.396000	0.46663	0.563000	0.77884	ATC		0.418	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		C	69627565	G	C	69627565	3	2	333	1	0	0	0	0	1	0	0	0	10386	1280	45	3	121	3	NFU1	2	69627565	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	67700757	69627565	173571808	11	17825											
GALNT13	114805	genome.wustl.edu	37	2	155098634	155098634	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr2:155098634G>T	ENST00000392825.3	+	5	970	c.403G>T	c.(403-405)Gtt>Ttt	p.V135F	GALNT13_ENST00000409237.1_Missense_Mutation_p.V135F	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	135	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCTTAGAACTGTTTACAGTGT	0.388																																																0			2											128	117	120					2																	155098634		2203	4300	6503	154806880	SO:0001583	missense	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.403G>T	2.37:g.155098634G>T	ENSP00000376570:p.Val135Phe		154806880	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163533	0.94727	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.61158	0.13;0.13	5.56	5.56	0.83823	Glycosyl transferase, family 2 (1);	0.119560	0.56097	D	0.000031	D	0.83385	0.5243	H	0.96398	3.815	0.80722	D	1	D;P	0.54397	0.966;0.954	D;D	0.64506	0.926;0.92	D	0.88482	0.3069	10	0.87932	D	0	.	18.1371	0.89623	0.0:0.0:1.0:0.0	.	135;135	Q08ER7;Q8IUC8	.;GLT13_HUMAN	F	135	ENSP00000376570:V135F;ENSP00000387239:V135F	ENSP00000376570:V135F	V	+	1	0	GALNT13	154806880	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	6.800000	0.75165	2.621000	0.88768	0.579000	0.79373	GTT		0.388	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		T	155098634	G	T	155098634	3	4	333	1	0	0	0	0	1	0	0	0	6211	1377	48	3	413	3	GALNT13	2	155098634	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	85471069	155098634	88100739	12	17826											
MDH1B	130752	genome.wustl.edu	37	2	207622016	207622016	+	Missense_Mutation	SNP	C	C	T	rs374638364		TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr2:207622016C>T	ENST00000374412.3	-	3	490	c.215G>A	c.(214-216)cGt>cAt	p.R72H	MDH1B_ENST00000449792.1_De_novo_Start_OutOfFrame|MDH1B_ENST00000454776.2_Missense_Mutation_p.R72H|MDH1B_ENST00000392214.2_Missense_Mutation_p.R72H	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	72					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTTTCCTCCACGATCCAACAG	0.388																																					Pancreas(76;29 1355 28675 37177 51207)											0			2						T	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	125	123	123		215	5	1	2		123	0,8600		0,0,4300	no	missense	MDH1B	NM_001039845.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	72/519	207622016	1,13005	2203	4300	6503	207330261	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.215G>A	2.37:g.207622016C>T	ENSP00000363533:p.Arg72His		207330261	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	c	22.0	4.228269	0.79576	2.27E-4	0.0	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T;T	0.61040	0.14;0.14;0.14	5.84	4.97	0.65823	.	0.112129	0.64402	N	0.000007	T	0.76898	0.4052	M	0.81497	2.545	0.34038	D	0.654688	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	D	0.86099	0.1555	10	0.87932	D	0	-15.1723	15.2034	0.73159	0.0:0.9328:0.0:0.0672	.	72;72	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	H	72	ENSP00000363533:R72H;ENSP00000389916:R72H;ENSP00000376049:R72H	ENSP00000363533:R72H	R	-	2	0	MDH1B	207330261	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	3.405000	0.52630	1.506000	0.48736	-0.119000	0.15052	CGT		0.388	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		T	207622016	C	T	207622016	3	4	333	1	0	0	0	0	1	0	0	0	9409	536	19	1	1381	1	MDH1B	2	207622016	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	52523382	207622016	35577357	13	17827											
CNTN4	152330	genome.wustl.edu	37	3	3067877	3067877	+	Silent	SNP	G	G	A	rs375250470		TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr3:3067877G>A	ENST00000397461.1	+	14	1962	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	CNTN4_ENST00000427331.1_Silent_p.S526S|CNTN4_ENST00000418658.1_Silent_p.S526S|CNTN4_ENST00000448906.2_Silent_p.S198S|CNTN4_ENST00000358480.3_Silent_p.S307S|CNTN4_ENST00000397459.2_Silent_p.S198S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	526	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGATCACTCGCTAGACATCG	0.448																																																0			3						G	,,,	0,4406		0,0,2203	189	157	168		1578,594,1578,594	-10	0	3		168	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	526/1027,198/698,526/1027,198/699	3067877	1,13005	2203	4300	6503	3042877	SO:0001819	synonymous_variant	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1578G>A	3.37:g.3067877G>A			3042877	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																				0.448	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			A	3067877	G	A	3067877	2	1	333	1	0	0	0	0	0	0	0	1	3643	1074	38	1		1	CNTN4	3	3067877	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09		3067877	194954553	14	17828											
SCN11A	11280	genome.wustl.edu	37	3	38892069	38892069	+	Silent	SNP	C	C	T	rs78953918	byFrequency	TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr3:38892069C>T	ENST00000302328.3	-	25	4428	c.4230G>A	c.(4228-4230)acG>acA	p.T1410T	SCN11A_ENST00000456224.3_Silent_p.T1372T|SCN11A_ENST00000444237.2_Silent_p.T1410T|SCN11A_ENST00000450244.1_Silent_p.T1410T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1410					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACATTCTAACGTAAAGATGA	0.398													T|||	13	0.00259585	0	0.0029	5008	,	,		19143	0.001		0.0089	False		,,,				2504	0.001															0			3						T		5,4401	825.8+/-416.5	0,5,2198	155	143	147		4230	-0.2	0.4	3	dbSNP_132	147	59,8541	816.5+/-406.9	0,59,4241	no	coding-synonymous	SCN11A	NM_014139.2		0,64,6439	TT,TC,CC		0.686,0.1135,0.4921		1410/1792	38892069	64,12942	2203	4300	6503	38867073	SO:0001819	synonymous_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4230G>A	3.37:g.38892069C>T			38867073	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																				0.398	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		T	38892069	C	T	38892069	2	4	333	1	0	0	0	0	0	0	0	1	13916	523	19	1		1	SCN11A	3	38892069	Silent	SNP	C	TCGA-29-1703-01A-01W-0633-09	35824192	38892069	159130361	15	17829											
HHATL	57467	genome.wustl.edu	37	3	42739826	42739826	+	Silent	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr3:42739826G>A	ENST00000441594.1	-	6	762	c.501C>T	c.(499-501)ggC>ggT	p.G167G	HHATL_ENST00000310417.5_Silent_p.G167G	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	167					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GATCAAAAGTGCCTGTTACAA	0.572																																																0			3											61	63	62					3																	42739826		2203	4300	6503	42714830	SO:0001819	synonymous_variant	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.501C>T	3.37:g.42739826G>A			42714830	Q8TBG3|Q9ULP7	Silent	SNP	ENST00000441594.1	37	CCDS2704.1																																																																																				0.572	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		A	42739826	G	A	42739826	2	1	333	1	0	0	0	0	0	0	0	1	7090	1306	46	2		2	HHATL	3	42739826	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09	3847757	42739826	155282604	16	17830											
CCR2	729230	genome.wustl.edu	37	3	46399720	46399720	+	Silent	SNP	C	C	T	rs371859867		TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr3:46399720C>T	ENST00000400888.2	+	1	741	c.702C>T	c.(700-702)aaC>aaT	p.N234N	CCR2_ENST00000292301.4_Silent_p.N234N|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Silent_p.N234N			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	234					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGTGTCGAAACGAGAAGAAGA	0.468																																																0			3						C	,	0,3136		0,0,1568	227	211	216		702,702	-10.1	0	3		216	1,7163		0,1,3581	no	coding-synonymous,coding-synonymous	CCR2	NM_001123041.2,NM_001123396.1	,	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	,	234/375,234/361	46399720	1,10299	1568	3582	5150	46374724	SO:0001819	synonymous_variant	1231				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.702C>T	3.37:g.46399720C>T			46374724	A0AVQ3|B2RMT0|Q4VBL2	Silent	SNP	ENST00000400888.2	37	CCDS43078.1																																																																																				0.468	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		T	46399720	C	T	46399720	2	4	333	1	0	0	0	0	0	0	0	1	2941	535	19	1		1	CCR2	3	46399720	Silent	SNP	C	TCGA-29-1703-01A-01W-0633-09	3659894	46399720	151622710	17	17831											
QARS	5859	genome.wustl.edu	37	3	49140785	49140785	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr3:49140785T>C	ENST00000306125.6	-	5	846	c.509A>G	c.(508-510)gAc>gGc	p.D170G	QARS_ENST00000420147.2_Missense_Mutation_p.D188G|QARS_ENST00000414533.1_Missense_Mutation_p.D159G|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	170					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CACCTGCATGTCCACTTCATT	0.512																																																0			3											159	139	146					3																	49140785		2203	4300	6503	49115789	SO:0001583	missense	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.509A>G	3.37:g.49140785T>C	ENSP00000307567:p.Asp170Gly		49115789	B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872981	0.91664	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.31247	1.53;1.5	5.6	5.6	0.85130	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 (1);	0.048431	0.85682	D	0.000000	T	0.64757	0.2627	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.74025	-0.3797	10	0.87932	D	0	-24.7121	15.7913	0.78367	0.0:0.0:0.0:1.0	.	188;159;170	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	G	170;159;188;212;170	ENSP00000307567:D170G;ENSP00000390015:D159G	ENSP00000307567:D170G	D	-	2	0	QARS	49115789	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.642000	0.83385	2.124000	0.65301	0.528000	0.53228	GAC		0.512	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		C	49140785	T	C	49140785	3	2	333	1	0	0	0	0	1	0	0	0	12874	1667	58	4	1898	4	QARS	3	49140785	Missense_Mutation	SNP	T	TCGA-29-1703-01A-01W-0633-09	2741065	49140785	148881645	18	17832											
CACNA2D3	55799	genome.wustl.edu	37	3	54786662	54786662	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr3:54786662G>A	ENST00000474759.1	+	12	1252	c.1204G>A	c.(1204-1206)Gcg>Acg	p.A402T	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A402T|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A402T|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A308T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	402	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ACGAGAGGCTGCGTTTGCAGA	0.498																																																0			3											101	107	105					3																	54786662		2163	4272	6435	54761702	SO:0001583	missense	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1204G>A	3.37:g.54786662G>A	ENSP00000419101:p.Ala402Thr		54761702	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566140	0.27915	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	6.02	5.14	0.70334	von Willebrand factor, type A (3);	0.104095	0.64402	D	0.000003	T	0.06188	0.0160	N	0.01751	-0.74	0.51012	D	0.999907	B	0.19073	0.033	B	0.26517	0.07	T	0.23583	-1.0184	10	0.06625	T	0.88	.	17.4407	0.87564	0.0:0.1243:0.8757:0.0	.	402	Q8IZS8	CA2D3_HUMAN	T	402;402;402;308;308;307	ENSP00000389506:A402T;ENSP00000419101:A402T;ENSP00000288197:A402T;ENSP00000417279:A308T	ENSP00000288197:A402T	A	+	1	0	CACNA2D3	54761702	1.000000	0.71417	0.783000	0.31826	0.244000	0.25665	7.338000	0.79269	1.551000	0.49450	-0.165000	0.13383	GCG		0.498	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			A	54786662	G	A	54786662	3	1	333	1	0	0	0	0	1	0	0	0	2550	1319	46	2	1250	2	CACNA2D3	3	54786662	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	5645877	54786662	143235768	19	17833											
CENPE	1062	genome.wustl.edu	37	4	104035657	104035657	+	Silent	SNP	A	A	G	rs202097843		TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr4:104035657A>G	ENST00000265148.3	-	46	7584	c.7495T>C	c.(7495-7497)Ttg>Ctg	p.L2499L	CENPE_ENST00000380026.3_Silent_p.L2378L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTCTCTCAATAGCCTTATA	0.323													A|||	1	0.000199681	0	0	5008	,	,		19116	0		0.001	False		,,,				2504	0															0			4											176	164	168					4																	104035657		2202	4300	6502	104255106	SO:0001819	synonymous_variant	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7495T>C	4.37:g.104035657A>G			104255106	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																				0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	104035657	A	G	104035657	2	3	333	1	0	0	0	0	0	0	0	1	3230	98	4	4		4	CENPE	4	104035657	Silent	SNP	A	TCGA-29-1703-01A-01W-0633-09		104035657	87118619	20	17834											
ARHGEF38	54848	genome.wustl.edu	37	4	106534658	106534658	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr4:106534658G>T	ENST00000420470.2	+	3	646	c.502G>T	c.(502-504)Gta>Tta	p.V168L	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.V168L	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	168	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GGCCATGCAAGTAATTGGTAT	0.413																																																0			4											129	121	124					4																	106534658		2203	4300	6503	106754107	SO:0001583	missense	54848			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"Rho guanine nucleotide exchange factors"	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.502G>T	4.37:g.106534658G>T	ENSP00000416125:p.Val168Leu		106754107	C9JIB4	Missense_Mutation	SNP	ENST00000420470.2	37	CCDS56338.1	.	.	.	.	.	.	.	.	.	.	G	0.703	-0.790197	0.02884	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	T;T	0.62498	0.02;0.02	5.67	4.83	0.62350	Dbl homology (DH) domain (4);	0.315912	0.27891	N	0.017425	T	0.32436	0.0829	N	0.03050	-0.425	0.25725	N	0.985337	B	0.14805	0.011	B	0.18561	0.022	T	0.19910	-1.0291	10	0.09084	T	0.74	-0.1461	8.9817	0.35970	0.1372:0.1239:0.7389:0.0	.	168	Q9NXL2	ARH38_HUMAN	L	168	ENSP00000265154:V168L;ENSP00000416125:V168L	ENSP00000265154:V168L	V	+	1	0	ARHGEF38	106754107	1.000000	0.71417	0.995000	0.50966	0.022000	0.10575	2.316000	0.43761	1.379000	0.46325	-0.150000	0.13652	GTA		0.413	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		T	106534658	G	T	106534658	3	4	333	1	0	0	0	0	1	0	0	0	907	1029	36	3	512	3	ARHGEF38	4	106534658	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	2499001	106534658	84619618	21	17835											
FAT4	79633	genome.wustl.edu	37	4	126412360	126412360	+	Missense_Mutation	SNP	C	C	G	rs267600018		TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr4:126412360C>G	ENST00000394329.3	+	17	14396	c.14383C>G	c.(14383-14385)Ctc>Gtc	p.L4795V	FAT4_ENST00000335110.5_Missense_Mutation_p.L3036V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4795	Necessary and sufficient for interaction with MPDZ. {ECO:0000250}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTGGAGAGGCTCAACACACC	0.517																																																0			4											59	62	61					4																	126412360		2203	4300	6503	126631810	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14383C>G	4.37:g.126412360C>G	ENSP00000377862:p.Leu4795Val		126631810	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170666	0.57584	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.89196	-2.29;-2.48	4.87	4.87	0.63330	.	0.000000	0.29892	U	0.010923	D	0.94066	0.8098	M	0.76574	2.34	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.80764	0.994;0.987;0.994	D	0.94746	0.7923	10	0.72032	D	0.01	.	17.0284	0.86454	0.0:1.0:0.0:0.0	.	3036;4795;4794	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	4795;3036	ENSP00000377862:L4795V;ENSP00000335169:L3036V	ENSP00000335169:L3036V	L	+	1	0	FAT4	126631810	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	5.553000	0.67287	2.253000	0.74438	0.491000	0.48974	CTC		0.517	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126412360	C	G	126412360	3	3	333	1	0	0	0	0	1	0	0	0	5692	797	28	3	14449	3	FAT4	4	126412360	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	19877702	126412360	64741916	22	17836											
TRIML1	339976	genome.wustl.edu	37	4	189068438	189068438	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr4:189068438delC	ENST00000332517.3	+	6	1459	c.1319delC	c.(1318-1320)gccfs	p.A440fs	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TTCCAAGAGGCCCTCAGGCCT	0.542																																					Melanoma(31;213 1036 16579 23968 32372)											0			4											82	83	83					4																	189068438		2203	4300	6503	189305432	SO:0001589	frameshift_variant	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1319delC	4.37:g.189068438delC	ENSP00000327738:p.Ala440fs		189305432	Q96BE5	Frame_Shift_Del	DEL	ENST00000332517.3	37	CCDS3851.1																																																																																				0.542	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		-	189068438	C	-	189068438	7	5	333	1	0	1	0	1	0	0	0	0	16550	739	26	0	1341	0	TRIML1	4	189068438	Frame_Shift_Del	DEL	C	TCGA-29-1703-01A-01W-0633-09	62656078	189068438	2085838	23	17837											
PTCD2	79810	genome.wustl.edu	37	5	71616321	71616321	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr5:71616321C>G	ENST00000380639.5	+	1	128	c.112C>G	c.(112-114)Cgc>Ggc	p.R38G	MRPS27_ENST00000522095.1_5'Flank|MRPS27_ENST00000261413.5_5'Flank|PTCD2_ENST00000536805.1_5'UTR|MRPS27_ENST00000513900.1_5'Flank|MRPS27_ENST00000457646.4_5'Flank|PTCD2_ENST00000503868.1_Missense_Mutation_p.R38G|PTCD2_ENST00000543322.1_Missense_Mutation_p.R38G|MRPS27_ENST00000515404.1_5'Flank	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	38					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TGTCAGCTGCCGCTGCCCTCT	0.602																																																0			5											31	35	34					5																	71616321		1969	4171	6140	71652077	SO:0001583	missense	79810			BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.112C>G	5.37:g.71616321C>G	ENSP00000370013:p.Arg38Gly		71652077	B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895445	0.52121	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	.	.	.	5.4	3.55	0.40652	.	0.781807	0.12604	N	0.454453	T	0.55862	0.1947	L	0.60455	1.87	0.80722	D	1	B;B	0.18013	0.025;0.017	B;B	0.18561	0.013;0.022	T	0.55636	-0.8110	9	0.45353	T	0.12	.	7.5147	0.27593	0.0:0.744:0.1665:0.0894	.	38;38	E9PFV7;Q8WV60	.;PTCD2_HUMAN	G	38	.	ENSP00000308948:R38G	R	+	1	0	PTCD2	71652077	1.000000	0.71417	0.997000	0.53966	0.390000	0.30446	1.198000	0.32223	1.509000	0.48786	0.561000	0.74099	CGC		0.602	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		G	71616321	C	G	71616321	3	3	333	1	0	0	0	0	1	0	0	0	12731	652	23	3	114	3	PTCD2	5	71616321	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09		71616321	109298939	24	17838											
NRG2	9542	genome.wustl.edu	37	5	139266939	139266939	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr5:139266939T>A	ENST00000361474.1	-	2	1082	c.858A>T	c.(856-858)aaA>aaT	p.K286N	NRG2_ENST00000541337.1_Missense_Mutation_p.K286N|NRG2_ENST00000340391.3_Missense_Mutation_p.K83N|NRG2_ENST00000394770.1_Missense_Mutation_p.K286N|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289422.7_Missense_Mutation_p.K286N|NRG2_ENST00000545385.1_Missense_Mutation_p.K286N|NRG2_ENST00000289409.4_Missense_Mutation_p.K286N|NRG2_ENST00000358522.3_Missense_Mutation_p.K286N	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	286	Ig-like C2-type.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGCCATATTTGATGCGAA	0.577																																																0			5											167	143	151					5																	139266939		2203	4300	6503	139247123	SO:0001583	missense	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.858A>T	5.37:g.139266939T>A	ENSP00000354910:p.Lys286Asn		139247123		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678965	0.68042	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.64	2.89	0.33648	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068939	0.56097	D	0.000039	T	0.69314	0.3097	L	0.41906	1.305	0.43485	D	0.995719	D;D;D;D	0.76494	0.97;0.971;0.999;0.978	P;P;D;P	0.68765	0.846;0.856;0.96;0.775	T	0.67991	-0.5527	10	0.62326	D	0.03	-14.8121	6.4174	0.21723	0.0:0.6339:0.0:0.3661	.	286;286;286;286	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	N	286;286;286;286;286;286;83;286;286;194;286	ENSP00000444235:K286N;ENSP00000289422:K286N;ENSP00000354910:K286N;ENSP00000438753:K286N;ENSP00000378251:K286N;ENSP00000342660:K83N;ENSP00000289409:K286N;ENSP00000351323:K286N;ENSP00000367483:K286N	ENSP00000289409:K286N	K	-	3	2	NRG2	139247123	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.026000	0.30103	0.726000	0.32339	-0.468000	0.05107	AAA		0.577	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		A	139266939	T	A	139266939	3	1	333	1	0	0	0	0	1	0	0	0	10648	1490	52	5	1821	5	NRG2	5	139266939	Missense_Mutation	SNP	T	TCGA-29-1703-01A-01W-0633-09	67650618	139266939	41648321	25	17839											
ARSI	340075	genome.wustl.edu	37	5	149677353	149677353	+	Silent	SNP	G	G	A	rs528847762		TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr5:149677353G>A	ENST00000328668.7	-	2	1713	c.1134C>T	c.(1132-1134)agC>agT	p.S378S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	378					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGGCCCTCGCTGATGGCCG	0.632													G|||	1	0.000199681	0	0	5008	,	,		18808	0.001		0	False		,,,				2504	0															0			5											42	45	44					5																	149677353		2203	4299	6502	149657546	SO:0001819	synonymous_variant	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1134C>T	5.37:g.149677353G>A			149657546	A1L3B0|B3KV22|B7XD03	Silent	SNP	ENST00000328668.7	37	CCDS34275.1																																																																																				0.632	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		A	149677353	G	A	149677353	2	1	333	1	0	0	0	0	0	0	0	1	994	1078	38	1		1	ARSI	5	149677353	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09	10410414	149677353	31237907	26	17840											
STC2	8614	genome.wustl.edu	37	5	172750418	172750418	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr5:172750418T>C	ENST00000265087.4	-	3	1619	c.310A>G	c.(310-312)Aaa>Gaa	p.K104E	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	104					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGGCGTCTTTGATGAATGAC	0.567																																																0			5											29	25	26					5																	172750418		2203	4300	6503	172683024	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.310A>G	5.37:g.172750418T>C	ENSP00000265087:p.Lys104Glu		172683024		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.5|26.5	4.748085|4.748085	0.89663|0.89663	.|.	.|.	ENSG00000113739|ENSG00000113739	ENST00000265087;ENST00000518455|ENST00000520648	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76870|0.76870	0.4048|0.4048	M|M	0.79926|0.79926	2.475|2.475	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.67145|.	0.996|.	D|.	0.67900|.	0.954|.	T|T	0.78548|0.78548	-0.2162|-0.2162	9|5	0.72032|.	D|.	0.01|.	-23.0401|-23.0401	15.4834|15.4834	0.75545|0.75545	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	104|.	O76061|.	STC2_HUMAN|.	E|R	104;19|57	.|.	ENSP00000265087:K104E|.	K|Q	-|-	1|2	0|0	STC2|STC2	172683024|172683024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.778000|0.778000	0.44026|0.44026	7.698000|7.698000	0.84413|0.84413	2.064000|2.064000	0.61679|0.61679	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.567	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		C	172750418	T	C	172750418	3	2	333	1	0	0	0	0	1	0	0	0	15278	1821	63	4	606	4	STC2	5	172750418	Missense_Mutation	SNP	T	TCGA-29-1703-01A-01W-0633-09	23073065	172750418	8164842	27	17841											
KIF13A	63971	genome.wustl.edu	37	6	17761101	17761101	+	IGR	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr6:17761101G>A	ENST00000259711.6	-	0	5941				KIF13A_ENST00000378814.5_Missense_Mutation_p.T1746I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A						ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCGTGAGGTTGTGCCTCCCTG	0.602																																																0			6											74	89	84					6																	17761101		2147	4248	6395	17869080	SO:0001628	intergenic_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313		6.37:g.17761101G>A			17869080	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647598	0.29246	.	.	ENSG00000137177	ENST00000378814;ENST00000502297	T;T	0.71341	-0.56;1.87	5.32	0.939	0.19506	.	.	.	.	.	T	0.35885	0.0947	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.19391	0.025	T	0.33111	-0.9881	8	0.41790	T	0.15	.	6.5504	0.22431	0.3525:0.1271:0.5203:0.0	.	1746	Q9H1H9-3	.	I	1746;798	ENSP00000368091:T1746I;ENSP00000425616:T798I	ENSP00000368091:T1746I	T	-	2	0	KIF13A	17869080	0.021000	0.18746	0.001000	0.08648	0.087000	0.18053	0.211000	0.17474	0.242000	0.21303	-0.218000	0.12543	ACA		0.602	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			A	17761101	G	A	17761101	1	1	333	0	1	0	0	0	0	0	0	0	8274	1377	48	2		2	KIF13A	6	17761101	IGR	SNP	G	TCGA-29-1703-01A-01W-0633-09		17761101	153353966	28	17842											
TDRD6	221400	genome.wustl.edu	37	6	46658388	46658388	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr6:46658388A>G	ENST00000316081.6	+	1	2523	c.2523A>G	c.(2521-2523)atA>atG	p.I841M	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.I841M|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	841	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTAGTGGGATACAGTCTGTGG	0.393																																																0			6											111	113	112					6																	46658388		2203	4300	6503	46766347	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2523A>G	6.37:g.46658388A>G	ENSP00000346065:p.Ile841Met		46766347	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.401823	0.25291	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12672	2.66;2.66	5.75	-4.9	0.03094	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	1.864110	0.01966	N	0.043723	T	0.06234	0.0161	L	0.47190	1.495	0.09310	N	1	P;P	0.40553	0.674;0.721	B;P	0.49477	0.409;0.612	T	0.25082	-1.0142	10	0.40728	T	0.16	-7.0814	0.3572	0.00358	0.2764:0.2855:0.1855:0.2526	.	841;841	F5H5M3;O60522	.;TDRD6_HUMAN	M	841	ENSP00000443299:I841M;ENSP00000346065:I841M	ENSP00000346065:I841M	I	+	3	3	TDRD6	46766347	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.541000	0.06099	-0.177000	0.10690	0.533000	0.62120	ATA		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		G	46658388	A	G	46658388	3	3	333	1	0	0	0	0	1	0	0	0	15734	381	14	4	2525	4	TDRD6	6	46658388	Missense_Mutation	SNP	A	TCGA-29-1703-01A-01W-0633-09	28897287	46658388	124456679	29	17843											
DST	667	genome.wustl.edu	37	6	56480743	56480743	+	Silent	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr6:56480743G>A	ENST00000370765.6	-	24	7629	c.7522C>T	c.(7522-7524)Ctg>Ttg	p.L2508L	DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1804					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATCAACCAGGCCTCTATGC	0.512																																																0			6											78	81	80					6																	56480743		2203	4300	6503	56588702	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7522C>T	6.37:g.56480743G>A			56588702	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	CCDS4959.1																																																																																				0.512	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		A	56480743	G	A	56480743	2	1	333	1	0	0	0	0	0	0	0	1	4783	991	35	2		2	DST	6	56480743	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09	9822355	56480743	114634324	30	17844											
LMBRD1	55788	genome.wustl.edu	37	6	70410676	70410676	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr6:70410676A>G	ENST00000370577.3	-	12	1398	c.1169T>C	c.(1168-1170)aTa>aCa	p.I390T	LMBRD1_ENST00000370570.1_Missense_Mutation_p.I317T	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	390					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AAAGAACCATATGCCAATATT	0.244																																																0			6											17	18	17					6																	70410676		2149	4228	6377	70467397	SO:0001583	missense	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1169T>C	6.37:g.70410676A>G	ENSP00000359609:p.Ile390Thr		70467397	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826471	0.50739	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.21191	2.02;2.02	5.23	4.04	0.47022	.	.	.	.	.	T	0.35393	0.0930	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.36480	-0.9746	9	0.59425	D	0.04	-13.5649	12.1498	0.54044	0.8565:0.1435:0.0:0.0	.	390	Q9NUN5	LMBD1_HUMAN	T	390;317	ENSP00000359609:I390T;ENSP00000359602:I317T	ENSP00000359602:I317T	I	-	2	0	LMBRD1	70467397	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.317000	0.96327	0.807000	0.34208	0.482000	0.46254	ATA		0.244	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		G	70410676	A	G	70410676	3	3	333	1	0	0	0	0	1	0	0	0	8842	449	16	4	473	4	LMBRD1	6	70410676	Missense_Mutation	SNP	A	TCGA-29-1703-01A-01W-0633-09	13929933	70410676	100704391	31	17845											
FAM135A	57579	genome.wustl.edu	37	6	71238092	71238092	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr6:71238092G>A	ENST00000418814.2	+	16	4326	c.3712G>A	c.(3712-3714)Gta>Ata	p.V1238I	FAM135A_ENST00000370479.3_Missense_Mutation_p.V1025I|FAM135A_ENST00000457062.2_Missense_Mutation_p.V1025I|FAM135A_ENST00000505769.1_Missense_Mutation_p.V818I|FAM135A_ENST00000361499.3_Missense_Mutation_p.V1042I|FAM135A_ENST00000505868.1_Missense_Mutation_p.V1238I	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1238										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTATTTTAGTGTAGAAGAAGA	0.433																																																0			6											203	174	184					6																	71238092		2203	4300	6503	71294813	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3712G>A	6.37:g.71238092G>A	ENSP00000410768:p.Val1238Ile		71294813	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	0.768	-0.766912	0.02974	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.21031	2.37;2.36;2.03;2.36;2.36;2.38	5.14	-5.69	0.02428	.	0.470812	0.25741	N	0.028607	T	0.01592	0.0051	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.005	T	0.27262	-1.0079	10	0.05620	T	0.96	.	13.3981	0.60865	0.4765:0.0:0.5235:0.0	.	818;1238;1238;1042;1025	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	I	1238;1025;818;1025;1042;1238	ENSP00000410768:V1238I;ENSP00000359510:V1025I;ENSP00000423785:V818I;ENSP00000409201:V1025I;ENSP00000354913:V1042I;ENSP00000423307:V1238I	ENSP00000354913:V1042I	V	+	1	0	FAM135A	71294813	0.001000	0.12720	0.017000	0.16124	0.014000	0.08584	-0.168000	0.09925	-1.364000	0.02161	-1.936000	0.00505	GTA		0.433	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		A	71238092	G	A	71238092	3	1	333	1	0	0	0	0	1	0	0	0	5448	1377	48	2	3844	2	FAM135A	6	71238092	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	827416	71238092	99876975	32	17846											
UTRN	7402	genome.wustl.edu	37	6	144759887	144759887	+	Silent	SNP	C	C	T	rs114118949	byFrequency	TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr6:144759887C>T	ENST00000367545.3	+	11	1248	c.1248C>T	c.(1246-1248)caC>caT	p.H416H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	416	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACAGGCTGCACGATGTGCTGA	0.517													C|||	2	0.000399361	0	0	5008	,	,		18457	0.002		0	False		,,,				2504	0															0			6											99	92	94					6																	144759887		2203	4300	6503	144801580	SO:0001819	synonymous_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1248C>T	6.37:g.144759887C>T			144801580	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1																																																																																				0.517	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			T	144759887	C	T	144759887	2	4	333	1	0	0	0	0	0	0	0	1	17103	535	19	1		1	UTRN	6	144759887	Silent	SNP	C	TCGA-29-1703-01A-01W-0633-09	73521795	144759887	26355180	33	17847											
C7orf41	222166	genome.wustl.edu	37	7	30197090	30197090	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr7:30197090G>C	ENST00000324453.8	+	3	649	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	C7orf41_ENST00000409688.1_Missense_Mutation_p.E67Q|C7orf41_ENST00000455738.1_Missense_Mutation_p.E75Q|C7orf41_ENST00000415604.1_Missense_Mutation_p.E108Q|C7orf41_ENST00000324489.5_Missense_Mutation_p.E75Q|AC007036.5_ENST00000511893.1_RNA	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		108					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						CGATGCGTTTGAAGAGTACAG	0.567																																																0			7											156	166	163					7																	30197090		2203	4300	6503	30163615	SO:0001583	missense	222166																														ENST00000324453.8:c.322G>C	7.37:g.30197090G>C	ENSP00000324204:p.Glu108Gln		30163615	B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543565	0.65198	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604;ENST00000324489;ENST00000455738	.	.	.	6.17	6.17	0.99709	.	0.119736	0.56097	D	0.000039	T	0.51975	0.1706	N	0.19112	0.55	0.41370	D	0.987482	P	0.44816	0.844	B	0.44278	0.445	T	0.55554	-0.8123	9	0.62326	D	0.03	-16.672	19.8676	0.96824	0.0:0.0:1.0:0.0	.	108	Q8N3F0	CG041_HUMAN	Q	108;67;108;75;75	.	ENSP00000324204:E108Q	E	+	1	0	C7orf41	30163615	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	8.083000	0.89515	2.941000	0.99782	0.655000	0.94253	GAA		0.567	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1			C	30197090	G	C	30197090	3	2	333	1	0	0	0	0	1	0	0	0	2391	1291	45	3	332	3	C7orf41	7	30197090	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09		30197090	128941573	34	17848											
CDK6	1021	genome.wustl.edu	37	7	92300799	92300799	+	Silent	SNP	G	G	A	rs140690409	byFrequency	TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr7:92300799G>A	ENST00000265734.4	-	5	999	c.588C>T	c.(586-588)taC>taT	p.Y196Y	CDK6_ENST00000424848.2_Silent_p.Y196Y	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CGGGGGTGGCGTAGCTGGACT	0.488			T	MLLT10	ALL								G|||	2	0.000399361	0.0015	0	5008	,	,		21030	0		0	False		,,,				2504	0						Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0			7						G	,	8,4398	14.3+/-33.2	0,8,2195	105	92	97		588,588	-3.8	0.9	7	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDK6	NM_001145306.1,NM_001259.6	,	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	,	196/327,196/327	92300799	8,12998	2203	4300	6503	92138735	SO:0001819	synonymous_variant	1021				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.588C>T	7.37:g.92300799G>A			92138735	A4D1G0	Silent	SNP	ENST00000265734.4	37	CCDS5628.1																																																																																				0.488	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			A	92300799	G	A	92300799	2	1	333	1	0	0	0	0	0	0	0	1	3148	1140	40	1		1	CDK6	7	92300799	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09	62103709	92300799	66837864	35	17849											
ABCF2	10061	genome.wustl.edu	37	7	150921059	150921059	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr7:150921059G>A	ENST00000287844.2	-	4	618	c.509C>T	c.(508-510)gCc>gTc	p.A170V	ABCF2_ENST00000222388.2_Missense_Mutation_p.A170V|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	170	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCATGGCCCGCTCTGT	0.602																																																0			7											100	88	92					7																	150921059		2203	4300	6503	150551992	SO:0001583	missense	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.509C>T	7.37:g.150921059G>A	ENSP00000287844:p.Ala170Val		150551992	O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835523	0.50951	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.193670	0.53938	D	0.000044	D	0.85969	0.5821	N	0.12887	0.27	0.36037	D	0.839801	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.83273	-0.0042	10	0.26408	T	0.33	-0.872	13.9691	0.64228	0.0:0.0:0.8486:0.1514	.	170;170	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	V	170	ENSP00000222388:A170V;ENSP00000287844:A170V;ENSP00000419720:A170V;ENSP00000395785:A170V	ENSP00000222388:A170V	A	-	2	0	ABCF2	150551992	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.005000	0.70716	2.746000	0.94184	0.655000	0.94253	GCC		0.602	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		A	150921059	G	A	150921059	3	1	333	1	0	0	0	0	1	0	0	0	66	1203	42	2	1451	2	ABCF2	7	150921059	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	58620260	150921059	8217604	36	17850											
FUT10	84750	genome.wustl.edu	37	8	33246986	33246986	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr8:33246986G>A	ENST00000327671.5	-	4	1338	c.707C>T	c.(706-708)aCt>aTt	p.T236I	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.T208I|FUT10_ENST00000335589.3_Missense_Mutation_p.T174I|FUT10_ENST00000524021.1_Missense_Mutation_p.T208I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	236					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CTCGATGTAAGTCATCAGCTC	0.468																																																0			8											113	103	106					8																	33246986		2203	4300	6503	33366528	SO:0001583	missense	84750			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.707C>T	8.37:g.33246986G>A	ENSP00000332757:p.Thr236Ile		33366528	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	g	9.502	1.103430	0.20632	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.26067	1.76;1.76;1.76;2.01	5.17	4.23	0.50019	.	0.617832	0.16581	N	0.208209	T	0.28995	0.0720	L	0.58101	1.795	0.18873	N	0.999985	P;B;B;B;P;B	0.41313	0.745;0.139;0.252;0.231;0.469;0.061	B;B;B;B;B;B	0.42245	0.381;0.189;0.133;0.32;0.234;0.374	T	0.19451	-1.0305	10	0.72032	D	0.01	-0.3393	10.5017	0.44810	0.0:0.0:0.6941:0.3059	.	286;236;208;174;236;278	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	I	236;278;208;208;174	ENSP00000332757:T236I;ENSP00000430428:T208I;ENSP00000429870:T208I;ENSP00000334997:T174I	ENSP00000332757:T236I	T	-	2	0	FUT10	33366528	0.899000	0.30636	0.480000	0.27341	0.143000	0.21401	1.874000	0.39568	2.562000	0.86427	0.552000	0.68991	ACT		0.468	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		A	33246986	G	A	33246986	3	1	333	1	0	0	0	0	1	0	0	0	6102	1029	36	2	740	2	FUT10	8	33246986	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09		33246986	113117036	37	17851											
KIAA0146	23514	genome.wustl.edu	37	8	48508396	48508396	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr8:48508396G>A	ENST00000297423.4	+	9	1505	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	SPIDR_ENST00000518074.1_Missense_Mutation_p.G314E|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.G304E	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	374	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											ATTCCAAGTGGAAGTTGCCCT	0.388																																																0			8											106	99	101					8																	48508396		1835	4097	5932	48670949	SO:0001583	missense	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1121G>A	8.37:g.48508396G>A	ENSP00000297423:p.Gly374Glu		48670949	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.78|15.78	2.934695|2.934695	0.52866|0.52866	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000519401|ENST00000297423;ENST00000518074;ENST00000541342;ENST00000524006	.|.	.|.	.|.	5.45|5.45	1.73|1.73	0.24493|0.24493	.|.	.|1.180830	.|0.05895	.|N	.|0.629029	T|T	0.41050|0.41050	0.1142|0.1142	L|L	0.50333|0.50333	1.59|1.59	0.28821|0.28821	N|N	0.897694|0.897694	.|B;B;B;B	.|0.23891	.|0.093;0.093;0.093;0.093	.|B;B;B;B	.|0.24541	.|0.054;0.054;0.054;0.054	T|T	0.33954|0.33954	-0.9848|-0.9848	5|9	.|0.28530	.|T	.|0.3	.|.	5.7678|5.7678	0.18237|0.18237	0.5074:0.0:0.4926:0.0|0.5074:0.0:0.4926:0.0	.|.	.|314;304;374;374	.|B4E0Y6;B4DFV2;B4DEV5;Q14159	.|.;.;.;K0146_HUMAN	K|E	56|374;314;304;63	.|.	.|ENSP00000297423:G374E	E|G	+|+	1|2	0|0	KIAA0146|KIAA0146	48670949|48670949	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.703000|0.703000	0.40648|0.40648	1.366000|1.366000	0.34193|0.34193	0.599000|0.599000	0.29845|0.29845	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.388	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		A	48508396	G	A	48508396	3	1	333	1	0	0	0	0	1	0	0	0	8157	1174	41	2	1155	2	KIAA0146	8	48508396	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	15261410	48508396	97855626	38	17852											
CNBD1	168975	genome.wustl.edu	37	8	88364008	88364008	+	Nonsense_Mutation	SNP	C	C	T	rs75840995	byFrequency	TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr8:88364008C>T	ENST00000518476.1	+	9	1189	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	380								p.R380*(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGTGAAACTACGATCAAATAA	0.284													C|||	2	0.000399361	0	0	5008	,	,		14048	0.001		0.001	False		,,,				2504	0															2	Substitution - Nonsense(2)	large_intestine(2)	8											66	62	63					8																	88364008		1795	4034	5829	88433124	SO:0001587	stop_gained	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1138C>T	8.37:g.88364008C>T	ENSP00000430073:p.Arg380*		88433124		Nonsense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.98	3.927408	0.73327	.	.	ENSG00000176571	ENST00000518476	.	.	.	5.22	1.26	0.21427	.	1.332330	0.05197	N	0.504149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.1799	2.3862	0.04366	0.1534:0.5309:0.1489:0.1668	.	.	.	.	X	380	.	ENSP00000430073:R380X	R	+	1	2	CNBD1	88433124	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.073000	0.14640	-0.062000	0.13088	-0.324000	0.08512	CGA		0.284	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		T	88364008	C	T	88364008	4	4	333	1	0	0	0	0	0	1	0	0	3591	528	19	1	1172	1	CNBD1	8	88364008	Nonsense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	39855612	88364008	58000014	39	17853											
VPS13B	157680	genome.wustl.edu	37	8	100847945	100847945	+	Silent	SNP	C	C	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr8:100847945C>T	ENST00000358544.2	+	54	10107	c.9996C>T	c.(9994-9996)gaC>gaT	p.D3332D	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.D3307D	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3332					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATGCCATTGACATCAACAGTC	0.438																																					Colon(161;2205 2542 7338 31318)											0			8											64	58	60					8																	100847945		2203	4300	6503	100917121	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9996C>T	8.37:g.100847945C>T			100917121	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100847945	C	T	100847945	2	4	333	1	0	0	0	0	0	0	0	1	17190	477	17	2		2	VPS13B	8	100847945	Silent	SNP	C	TCGA-29-1703-01A-01W-0633-09	12483937	100847945	45516077	40	17854											
RGS22	26166	genome.wustl.edu	37	8	100994204	100994204	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr8:100994204G>C	ENST00000360863.6	-	22	3515	c.3321C>G	c.(3319-3321)caC>caG	p.H1107Q	RGS22_ENST00000523287.1_Missense_Mutation_p.H926Q|RGS22_ENST00000523437.1_Missense_Mutation_p.H1095Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1107	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTCCTTCCGGTGTTCAATAA	0.363																																																0			8											219	214	215					8																	100994204		1900	4128	6028	101063380	SO:0001583	missense	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3321C>G	8.37:g.100994204G>C	ENSP00000354109:p.His1107Gln		101063380	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286519	0.23478	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.21361	2.01;2.01;2.01	5.0	2.24	0.28232	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.421858	0.25427	N	0.030747	T	0.17109	0.0411	L	0.38531	1.155	0.24806	N	0.992679	P;P;B	0.46784	0.884;0.884;0.119	P;P;B	0.47299	0.543;0.543;0.037	T	0.08330	-1.0727	10	0.22706	T	0.39	.	5.3751	0.16160	0.2969:0.0:0.5684:0.1348	.	1095;1107;926	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	Q	1107;1094;926;1095	ENSP00000354109:H1107Q;ENSP00000429382:H926Q;ENSP00000428212:H1095Q	ENSP00000354109:H1107Q	H	-	3	2	RGS22	101063380	0.904000	0.30761	1.000000	0.80357	0.958000	0.62258	-0.023000	0.12456	0.516000	0.28340	0.585000	0.79938	CAC		0.363	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		C	100994204	G	C	100994204	3	2	333	1	0	0	0	0	1	0	0	0	13308	1252	44	3	497	3	RGS22	8	100994204	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	146259	100994204	45369818	41	17855											
RIMS2	9699	genome.wustl.edu	37	8	104831829	104831829	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr8:104831829C>A	ENST00000507740.1	+	1	330	c.94C>A	c.(94-96)Ctt>Att	p.L32I	RIMS2_ENST00000262231.10_Missense_Mutation_p.L32I|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAAAATGAGCTTTTTGGACA	0.318										HNSCC(12;0.0054)																																						0			8											103	98	100					8																	104831829		1818	4080	5898	104901005	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.94C>A	8.37:g.104831829C>A	ENSP00000423559:p.Leu32Ile		104901005	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000507740.1	37	CCDS43761.1	.	.	.	.	.	.	.	.	.	.	C	9.425	1.084072	0.20309	.	.	ENSG00000176406	ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T	0.18960	2.18;2.28;2.25;2.18	5.71	3.79	0.43588	.	.	.	.	.	T	0.11879	0.0289	N	0.08118	0	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.14578	0.011;0.011	T	0.08764	-1.0706	9	0.27785	T	0.31	.	14.7519	0.69533	0.2634:0.7366:0.0:0.0	.	32;32	Q9UQ26-1;Q9UQ26-3	.;.	I	32	ENSP00000425205:L32I;ENSP00000262231:L32I;ENSP00000423559:L32I;ENSP00000386228:L32I	ENSP00000262231:L32I	L	+	1	0	RIMS2	104901005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.867000	0.39499	1.351000	0.45789	0.585000	0.79938	CTT		0.318	RIMS2-005	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367215.1	NM_001100117		A	104831829	C	A	104831829	3	1	333	1	0	0	0	0	1	0	0	0	13371	797	28	3	806	3	RIMS2	8	104831829	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	3837625	104831829	41532193	42	17856											
DOCK8	81704	genome.wustl.edu	37	9	463585	463585	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr9:463585T>A	ENST00000453981.1	+	47	6249	c.6137T>A	c.(6136-6138)cTc>cAc	p.L2046H	RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|DOCK8_ENST00000469391.1_Missense_Mutation_p.L1946H|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|DOCK8_ENST00000432829.2_Missense_Mutation_p.L1978H|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.L1513H|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000608617.1_RNA			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2046	DHR-2.			L -> F (in Ref. 8; AAG42221). {ECO:0000305}.	blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGCAGGAACTCAAAAAGAAC	0.413																																																0			9											73	71	72					9																	463585		2203	4300	6503	453585	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.6137T>A	9.37:g.463585T>A	ENSP00000408464:p.Leu2046His		453585	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469926	0.84533	.	.	ENSG00000107099	ENST00000453981;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.04	5.04	0.67666	.	0.065132	0.64402	D	0.000010	T	0.61924	0.2386	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.994	T	0.70673	-0.4807	10	0.87932	D	0	.	14.7443	0.69480	0.0:0.0:0.0:1.0	.	1946;1513;2046	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	H	2046;1978;1946;1513	ENSP00000408464:L2046H;ENSP00000394888:L1978H;ENSP00000419438:L1946H;ENSP00000371766:L1513H	ENSP00000371766:L1513H	L	+	2	0	DOCK8	453585	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	7.470000	0.80973	2.031000	0.59945	0.460000	0.39030	CTC		0.413	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		A	463585	T	A	463585	3	1	333	1	0	0	0	0	1	0	0	0	4693	1551	54	5	6323	5	DOCK8	9	463585	Missense_Mutation	SNP	T	TCGA-29-1703-01A-01W-0633-09		463585	140749846	43	17857											
HSDL2	84263	genome.wustl.edu	37	9	115216388	115216388	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr9:115216388C>G	ENST00000398805.3	+	9	1188	c.961C>G	c.(961-963)Ctc>Gtc	p.L321V	HSDL2_ENST00000398803.1_Missense_Mutation_p.L248V|HSDL2_ENST00000262542.7_Missense_Mutation_p.L201V|HSDL2_ENST00000539114.1_Missense_Mutation_p.L116V|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	321	SCP2.					membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TAAGGACTCTCTCAGTGATGA	0.398																																																0			9											156	141	146					9																	115216388		1884	4116	6000	114256209	SO:0001583	missense	84263			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.961C>G	9.37:g.115216388C>G	ENSP00000381785:p.Leu321Val		114256209	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549345	0.65311	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.94	5.94	0.96194	SCP2 sterol-binding domain (2);	0.160827	0.56097	D	0.000032	T	0.24044	0.0582	L	0.37507	1.11	0.47183	D	0.999344	P;D;B	0.53745	0.717;0.962;0.017	B;P;B	0.49451	0.243;0.611;0.078	T	0.00369	-1.1784	10	0.33940	T	0.23	.	12.7824	0.57485	0.1634:0.8365:0.0:0.0	.	248;248;321	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	V	321;248;201;116	ENSP00000381785:L321V;ENSP00000381783:L248V;ENSP00000262542:L201V;ENSP00000442278:L116V	ENSP00000262542:L201V	L	+	1	0	HSDL2	114256209	0.939000	0.31865	0.999000	0.59377	0.833000	0.47200	1.890000	0.39728	2.821000	0.97095	0.484000	0.47621	CTC		0.398	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		G	115216388	C	G	115216388	3	3	333	1	0	0	0	0	1	0	0	0	7394	913	32	3	995	3	HSDL2	9	115216388	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	114752803	115216388	25997043	44	17858											
METTL11A	28989	genome.wustl.edu	37	9	132397560	132397560	+	Silent	SNP	C	C	T	rs372305359		TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr9:132397560C>T	ENST00000372486.1	+	4	838	c.489C>T	c.(487-489)atC>atT	p.I163I	NTMT1_ENST00000482347.1_Silent_p.I75I|NTMT1_ENST00000372483.4_Silent_p.I163I|NTMT1_ENST00000372481.3_Missense_Mutation_p.S135L|NTMT1_ENST00000372480.1_Silent_p.I163I			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	163					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										ACGGCATCATCGTCATCAAAG	0.637																																																0			9						C	,,,	0,4406		0,0,2203	103	87	92		,489,,	-10	0.6	9		92	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,coding-synonymous,utr-3,utr-3	METTL11A,ASB6	NM_001202403.1,NM_014064.2,NM_017873.3,NM_177999.2	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	,163/224,,	132397560	2,13004	2203	4300	6503	131437381	SO:0001819	synonymous_variant	28989			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.489C>T	9.37:g.132397560C>T			131437381	A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773843	0.16051	0.0	2.33E-4	ENSG00000148335	ENST00000372481	T	0.34667	1.35	5.01	-10.0	0.00425	.	.	.	.	.	T	0.26376	0.0644	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20405	-1.0276	8	0.87932	D	0	-14.7028	14.1201	0.65182	0.0:0.2021:0.0826:0.7152	.	135	Q9BV86-2	.	L	135	ENSP00000361559:S135L	ENSP00000361559:S135L	S	+	2	0	METTL11A	131437381	0.000000	0.05858	0.620000	0.29132	0.510000	0.34073	-2.451000	0.01006	-2.234000	0.00715	-2.165000	0.00325	TCG		0.637	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		T	132397560	C	T	132397560	2	4	333	1	0	0	0	0	0	0	0	1	9495	874	31	1		1	METTL11A	9	132397560	Silent	SNP	C	TCGA-29-1703-01A-01W-0633-09	17181172	132397560	8815871	45	17859											
DNAJC1	64215	genome.wustl.edu	37	10	22048511	22048511	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr10:22048511T>C	ENST00000376980.3	-	11	1474	c.1184A>G	c.(1183-1185)cAg>cGg	p.Q395R	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	395					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCTGGAATTCTGAACTGTCGA	0.557																																																0			10											54	48	50					10																	22048511		2203	4300	6503	22088517	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1184A>G	10.37:g.22048511T>C	ENSP00000366179:p.Gln395Arg		22088517	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	T	9.453	1.091031	0.20471	.	.	ENSG00000136770	ENST00000376980	T	0.23147	1.92	5.31	2.88	0.33553	.	0.708945	0.13847	N	0.358652	T	0.22975	0.0555	M	0.63843	1.955	0.24171	N	0.995621	P;P	0.44734	0.842;0.704	B;B	0.40165	0.321;0.17	T	0.11591	-1.0581	10	0.17369	T	0.5	-0.5877	7.0837	0.25245	0.1396:0.0:0.2913:0.5691	.	116;395	Q96NY3;Q96KC8	.;DNJC1_HUMAN	R	395	ENSP00000366179:Q395R	ENSP00000366179:Q395R	Q	-	2	0	DNAJC1	22088517	0.988000	0.35896	0.031000	0.17742	0.219000	0.24729	1.324000	0.33712	0.297000	0.22615	0.402000	0.26972	CAG		0.557	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		C	22048511	T	C	22048511	3	2	333	1	0	0	0	0	1	0	0	0	4628	1580	55	4	488	4	DNAJC1	10	22048511	Missense_Mutation	SNP	T	TCGA-29-1703-01A-01W-0633-09		22048511	113486236	46	17860											
ANKRD26	22852	genome.wustl.edu	37	10	27389064	27389064	+	Silent	SNP	C	C	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr10:27389064C>T	ENST00000376087.4	-	1	357	c.192G>A	c.(190-192)caG>caA	p.Q64Q	ANKRD26_ENST00000436985.2_Silent_p.Q64Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	64					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCAAAAGGATCTGCTGCACTT	0.587																																																0			10											97	105	102					10																	27389064		2030	4198	6228	27429070	SO:0001819	synonymous_variant	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.192G>A	10.37:g.27389064C>T			27429070	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	CCDS41499.1																																																																																				0.587	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			T	27389064	C	T	27389064	2	4	333	1	0	0	0	0	0	0	0	1	654	912	32	2		2	ANKRD26	10	27389064	Silent	SNP	C	TCGA-29-1703-01A-01W-0633-09	5340553	27389064	108145683	47	17861											
TTC18	118491	genome.wustl.edu	37	10	75107941	75107941	+	Silent	SNP	G	G	C			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr10:75107941G>C	ENST00000310715.3	-	5	522	c.402C>G	c.(400-402)ccC>ccG	p.P134P	TTC18_ENST00000340329.3_Silent_p.P134P|TTC18_ENST00000493787.1_Intron|Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Silent_p.P134P|TTC18_ENST00000401621.2_Silent_p.P134P	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		134						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GAGTTTCTAAGGGTGAGCCTT	0.418																																																0			10											123	110	114					10																	75107941		2203	4300	6503	74777947	SO:0001819	synonymous_variant	118491																														ENST00000310715.3:c.402C>G	10.37:g.75107941G>C			74777947	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	CCDS7324.3																																																																																				0.418	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	75107941	G	C	75107941	2	2	333	1	0	0	0	0	0	0	0	1	16685	987	35	3		3	TTC18	10	75107941	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09	47718877	75107941	60426806	48	17862											
XPNPEP1	7511	genome.wustl.edu	37	10	111647899	111647899	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr10:111647899A>C	ENST00000502935.1	-	7	679	c.560T>G	c.(559-561)aTt>aGt	p.I187S	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.I73S|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.I144S|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.I187S					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTTGACAGGAATGAGGTGATG	0.532																																																0			10											78	68	71					10																	111647899		2203	4300	6503	111637889	SO:0001583	missense	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.560T>G	10.37:g.111647899A>C	ENSP00000421566:p.Ile187Ser		111637889		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520806	0.64747	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.74	5.74	0.90152	Creatinase (1);	0.323851	0.33382	N	0.004972	T	0.67163	0.2864	L	0.59436	1.845	0.39822	D	0.972848	B;B;B	0.28998	0.119;0.062;0.23	B;B;B	0.40825	0.108;0.151;0.341	T	0.69837	-0.5037	9	0.62326	D	0.03	-3.4298	14.6152	0.68544	1.0:0.0:0.0:0.0	.	187;187;144	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	S	187;73;187;144;144;144	.	ENSP00000324011:I187S	I	-	2	0	XPNPEP1	111637889	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.100000	0.89544	2.182000	0.69389	0.496000	0.49642	ATT		0.532	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			C	111647899	A	C	111647899	3	2	333	1	0	0	0	0	1	0	0	0	17442	101	4	5	1500	5	XPNPEP1	10	111647899	Missense_Mutation	SNP	A	TCGA-29-1703-01A-01W-0633-09	36539958	111647899	23886848	49	17863											
PHRF1	57661	genome.wustl.edu	37	11	592610	592610	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr11:592610T>A	ENST00000264555.5	+	6	684	c.556T>A	c.(556-558)Tgt>Agt	p.C186S	PHRF1_ENST00000413872.2_Missense_Mutation_p.C185S|PHRF1_ENST00000416188.2_Missense_Mutation_p.C186S|PHRF1_ENST00000533464.1_Missense_Mutation_p.C182S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	186					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCGACCTTCTGTGAGGTGTG	0.627																																																0			11											138	158	151					11																	592610		2176	4256	6432	582610	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.556T>A	11.37:g.592610T>A	ENSP00000264555:p.Cys186Ser		582610	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	T	18.71	3.682838	0.68157	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63	4.11	4.11	0.48088	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42548	D	0.000691	D	0.99684	0.9881	H	0.99404	4.55	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97231	0.9884	10	0.87932	D	0	-10.4156	12.2284	0.54474	0.0:0.0:0.0:1.0	.	182;185;186;186	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	186;185;186;182	ENSP00000264555:C186S;ENSP00000388589:C185S;ENSP00000410626:C186S;ENSP00000431870:C182S	ENSP00000264555:C186S	C	+	1	0	PHRF1	582610	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.487000	0.81328	1.731000	0.51592	0.533000	0.62120	TGT		0.627	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		A	592610	T	A	592610	3	1	333	1	0	0	0	0	1	0	0	0	11861	1580	55	5	574	5	PHRF1	11	592610	Missense_Mutation	SNP	T	TCGA-29-1703-01A-01W-0633-09		592610	134413906	50	17864											
PLEKHA7	144100	genome.wustl.edu	37	11	16823221	16823222	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	CT	CT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr11:16823221_16823222delCT	ENST00000355661.3	-	16	2310_2311	c.2300_2301delAG	c.(2299-2301)gagfs	p.E767fs	PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.E767fs|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.E767fs			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	767					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCACAGTGGACTCTCTGGAGAG	0.579																																																0			11																																								16779798	SO:0001589	frameshift_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2300_2301delAG	11.37:g.16823225_16823226delCT	ENSP00000347883:p.Glu767fs		16779797	B4DK33|B4DWC3|Q86VZ7	Frame_Shift_Del	DEL	ENST00000355661.3	37	CCDS31434.1																																																																																				0.579	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		-	16823222	CT	-	16823221	7	5	333	1	0	1	0	1	0	0	0	0	12061	564	20	0	1096	0	PLEKHA7	11	16823221	Frame_Shift_Del	DEL	CT	TCGA-29-1703-01A-01W-0633-09	16230611	16823221	118183295	51	17865											
NAV2	89797	genome.wustl.edu	37	11	20077504	20077504	+	Splice_Site	SNP	G	G	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr11:20077504G>T	ENST00000396087.3	+	20	4999		c.e20+1		NAV2_ENST00000360655.4_Splice_Site|NAV2_ENST00000540292.1_Splice_Site|NAV2_ENST00000349880.4_Splice_Site|NAV2_ENST00000311043.8_Splice_Site|NAV2_ENST00000396085.1_Splice_Site|NAV2_ENST00000533917.1_Splice_Site|NAV2_ENST00000527559.2_Splice_Site	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2						glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTTgaagaaggtaaggaagga	0.488																																																0			11											44	40	42					11																	20077504		2203	4300	6503	20034080	SO:0001630	splice_region_variant	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4900+1G>T	11.37:g.20077504G>T			20034080	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Splice_Site	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.488	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	Intron	T	20077504	G	T	20077504	5	4	333	1	0	0	0	0	0	0	1	0	10184	1275	44	3	5015	3	NAV2	11	20077504	Splice_Site	SNP	G	TCGA-29-1703-01A-01W-0633-09	3254283	20077504	114929012	52	17866											
OR4A16	81327	genome.wustl.edu	37	11	55110733	55110733	+	Silent	SNP	T	T	G			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr11:55110733T>G	ENST00000314721.2	+	1	107	c.57T>G	c.(55-57)ccT>ccG	p.P19P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTCAAGATCCTGATGTGAAAA	0.408																																																0			11											68	62	64					11																	55110733		2201	4296	6497	54867309	SO:0001819	synonymous_variant	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.57T>G	11.37:g.55110733T>G			54867309	Q6IFL3	Silent	SNP	ENST00000314721.2	37	CCDS31499.1																																																																																				0.408	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		G	55110733	T	G	55110733	2	3	333	1	0	0	0	0	0	0	0	1	11041	1567	55	5		5	OR4A16	11	55110733	Silent	SNP	T	TCGA-29-1703-01A-01W-0633-09	35033229	55110733	79895783	53	17867											
FAM111A	63901	genome.wustl.edu	37	11	58920084	58920084	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr11:58920084A>C	ENST00000528737.1	+	5	3761	c.943A>C	c.(943-945)Aag>Cag	p.K315Q	FAM111A_ENST00000420244.1_Missense_Mutation_p.K315Q|FAM111A_ENST00000361723.3_Missense_Mutation_p.K315Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.K315Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.K315Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	315					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TGAAAACTTCAAGAAAAAAAT	0.328																																																0			11											32	37	36					11																	58920084		2197	4295	6492	58676660	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.943A>C	11.37:g.58920084A>C	ENSP00000434435:p.Lys315Gln		58676660	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366974	0.24771	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.65	-5.96	0.02234	.	0.863009	0.10334	N	0.687203	T	0.34193	0.0889	L	0.58101	1.795	0.09310	N	1	B	0.29988	0.264	B	0.23150	0.044	T	0.20974	-1.0259	10	0.35671	T	0.21	-12.2533	7.7983	0.29160	0.3842:0.4237:0.1921:0.0	.	315	Q96PZ2	F111A_HUMAN	Q	315	ENSP00000434435:K315Q;ENSP00000406683:K315Q;ENSP00000355264:K315Q;ENSP00000433154:K315Q;ENSP00000431631:K315Q	ENSP00000355264:K315Q	K	+	1	0	FAM111A	58676660	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.384000	0.02542	-0.783000	0.04534	-0.321000	0.08615	AAG		0.328	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		C	58920084	A	C	58920084	3	2	333	1	0	0	0	0	1	0	0	0	5399	131	5	5	949	5	FAM111A	11	58920084	Missense_Mutation	SNP	A	TCGA-29-1703-01A-01W-0633-09	3809351	58920084	76086432	54	17868											
TRPC4	7223	genome.wustl.edu	37	13	38211459	38211459	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr13:38211459C>A	ENST00000379705.3	-	11	3372	c.2515G>T	c.(2515-2517)Gtg>Ttg	p.V839L	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.V666L|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.V844L|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.V666L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	839	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATATCGGTCACAAAATTCACT	0.428																																																0			13											75	77	76					13																	38211459		2203	4300	6503	37109459	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2515G>T	13.37:g.38211459C>A	ENSP00000369027:p.Val839Leu		37109459	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106259	0.37145	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679	T;T;T;T	0.65364	-0.15;-0.15;0.05;0.05	5.9	5.9	0.94986	.	1.243620	0.06116	N	0.668079	T	0.50377	0.1612	N	0.19112	0.55	0.80722	D	1	B;P;B	0.38370	0.218;0.628;0.19	B;B;B	0.36922	0.056;0.236;0.05	T	0.19582	-1.0301	10	0.11182	T	0.66	-24.753	14.4356	0.67279	0.0:0.93:0.0:0.07	.	844;666;839	Q9UBN4-5;Q9UBN4-6;Q9UBN4	.;.;TRPC4_HUMAN	L	839;844;666;666	ENSP00000369027:V839L;ENSP00000369003:V844L;ENSP00000342580:V666L;ENSP00000369001:V666L	ENSP00000342580:V666L	V	-	1	0	TRPC4	37109459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.766000	0.47629	2.786000	0.95864	0.563000	0.77884	GTG		0.428	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		A	38211459	C	A	38211459	3	1	333	1	0	0	0	0	1	0	0	0	16580	478	17	3	422	3	TRPC4	13	38211459	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09		38211459	76958419	55	17869											
RB1	5925	genome.wustl.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr13:48947629G>A	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTATTTTAACGTAAGCCATAT	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	38	Unknown(23)|Whole gene deletion(15)	bone(12)|eye(6)|urinary_tract(5)|breast(5)|endometrium(3)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)	13	GRCh37	CS890133|CS982341	RB1	S							80	87	84					13																	48947629		2202	4287	6489	47845630	SO:0001630	splice_region_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1215+1G>A	13.37:g.48947629G>A			47845630	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681750	0.68042	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0805	0.93179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47845630	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.247000	0.78257	2.510000	0.84645	0.563000	0.77884	.		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	A	48947629	G	A	48947629	5	1	333	1	0	0	0	0	0	0	1	0	13101	1159	40	1	1262	1	RB1	13	48947629	Splice_Site	SNP	G	TCGA-29-1703-01A-01W-0633-09	10736170	48947629	66222249	56	17870											
UGGT2	55757	genome.wustl.edu	37	13	96485232	96485232	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr13:96485232C>T	ENST00000376747.3	-	38	4547	c.4477G>A	c.(4477-4479)Gct>Act	p.A1493T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1493	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CTTATCTCAGCATCATACTCC	0.348																																																0			13											223	195	205					13																	96485232		2202	4299	6501	95283233	SO:0001583	missense	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4477G>A	13.37:g.96485232C>T	ENSP00000365938:p.Ala1493Thr		95283233	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	1.971	-0.436519	0.04636	.	.	ENSG00000102595	ENST00000376747	T	0.22134	1.97	5.87	2.21	0.28008	.	0.312530	0.38548	N	0.001656	T	0.08935	0.0221	N	0.10916	0.065	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.25433	-1.0132	10	0.22109	T	0.4	-2.9145	5.5208	0.16931	0.1739:0.1591:0.0:0.667	.	1493	Q9NYU1	UGGG2_HUMAN	T	1493	ENSP00000365938:A1493T	ENSP00000365938:A1493T	A	-	1	0	UGGT2	95283233	0.970000	0.33590	0.369000	0.25952	0.765000	0.43378	0.128000	0.15810	0.150000	0.19136	-0.136000	0.14681	GCT		0.348	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		T	96485232	C	T	96485232	3	4	333	1	0	0	0	0	1	0	0	0	16942	710	25	2	81	2	UGGT2	13	96485232	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	47537603	96485232	18684646	57	17871											
AP1G2	8906	genome.wustl.edu	37	14	24032597	24032597	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr14:24032597T>A	ENST00000308724.5	-	13	2157	c.1402A>T	c.(1402-1404)Att>Ttt	p.I468F	AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.I468F|RP11-66N24.4_ENST00000553985.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	468					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		ACCTGGGAAATGTCTTCTGCC	0.597											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			14											63	53	57					14																	24032597		2202	4299	6501	23102437	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1402A>T	14.37:g.24032597T>A	ENSP00000312442:p.Ile468Phe	768	23102437	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117894	0.37339	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.28666	1.6;1.6	4.58	4.58	0.56647	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	L	0.56124	1.755	0.58432	D	0.999999	P;D	0.54601	0.892;0.967	P;P	0.58331	0.756;0.837	T	0.18209	-1.0344	10	0.10902	T	0.67	-15.7196	11.9456	0.52926	0.0:0.0:0.0:1.0	.	468;323	O75843;Q86V28	AP1G2_HUMAN;.	F	468;468;237;323	ENSP00000312442:I468F;ENSP00000380309:I468F	ENSP00000312442:I468F	I	-	1	0	AP1G2	23102437	1.000000	0.71417	0.991000	0.47740	0.486000	0.33341	4.395000	0.59678	1.903000	0.55091	0.460000	0.39030	ATT		0.597	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		A	24032597	T	A	24032597	3	1	333	1	0	0	0	0	1	0	0	0	733	1464	51	5	991	5	AP1G2	14	24032597	Missense_Mutation	SNP	T	TCGA-29-1703-01A-01W-0633-09		24032597	83316943	58	17872											
CREBBP	1387	genome.wustl.edu	37	16	3789578	3789578	+	Splice_Site	SNP	C	C	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr16:3789578C>A	ENST00000262367.5	-	25	5090		c.e25+1		CREBBP_ENST00000382070.3_Splice_Site	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein						cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGAAAACTACCTCGTGTTTG	0.517			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16											63	59	61					16																	3789578		2197	4300	6497	3729579	SO:0001630	splice_region_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4280+1G>T	16.37:g.3789578C>A			3729579	D3DUC9|O00147|Q16376|Q4LE28	Splice_Site	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771010	0.69992	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4402	0.94817	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CREBBP	3729579	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	7.701000	0.84566	2.665000	0.90641	0.561000	0.74099	.		0.517	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	Intron	A	3789578	C	A	3789578	5	1	333	1	0	0	0	0	0	0	1	0	3861	521	18	3	3075	3	CREBBP	16	3789578	Splice_Site	SNP	C	TCGA-29-1703-01A-01W-0633-09		3789578	86565175	59	17873											
SMG1	23049	genome.wustl.edu	37	16	18880584	18880584	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr16:18880584C>G	ENST00000446231.2	-	20	3087	c.2675G>C	c.(2674-2676)aGa>aCa	p.R892T	snoU13_ENST00000459248.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R892T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	892	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTATCCAGTCTCTGGCAGCT	0.413																																																0			16											16	14	15					16																	18880584		1765	3935	5700	18788085	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2675G>C	16.37:g.18880584C>G	ENSP00000402515:p.Arg892Thr		18788085	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971917	0.74246	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.15017	2.46;2.46	5.22	5.22	0.72569	Armadillo-type fold (1);	0.072562	0.53938	D	0.000058	T	0.30008	0.0751	L	0.44542	1.39	0.49483	D	0.999794	D	0.57899	0.981	D	0.67231	0.95	T	0.01899	-1.1251	10	0.02654	T	1	.	19.1566	0.93514	0.0:1.0:0.0:0.0	.	892	Q96Q15	SMG1_HUMAN	T	892	ENSP00000402515:R892T;ENSP00000374118:R892T	ENSP00000374118:R892T	R	-	2	0	SMG1	18788085	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.734000	0.84928	2.604000	0.88044	0.555000	0.69702	AGA		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		G	18880584	C	G	18880584	3	3	333	1	0	0	0	0	1	0	0	0	14798	913	32	3	8486	3	SMG1	16	18880584	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	15091006	18880584	71474169	60	17874											
PLK1	5347	genome.wustl.edu	37	16	23693447	23693447	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr16:23693447G>A	ENST00000300093.4	+	4	896	c.785G>A	c.(784-786)cGg>cAg	p.R262Q		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		ACCTACCTCCGGATCAAGAAG	0.423																																					Colon(12;240 564 27038 33155)											0			16											133	123	127					16																	23693447		2197	4300	6497	23600948	SO:0001583	missense	5347				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.785G>A	16.37:g.23693447G>A	ENSP00000300093:p.Arg262Gln		23600948	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687973	0.96784	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.65364	-0.15	5.85	5.85	0.93711	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	0.71013	0.3290	L	0.33624	1.015	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.69796	-0.5048	10	0.45353	T	0.12	-22.4818	17.6669	0.88205	0.0:0.0:1.0:0.0	.	262	P53350	PLK1_HUMAN	Q	262;165	ENSP00000300093:R262Q	ENSP00000300093:R262Q	R	+	2	0	PLK1	23600948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.391000	0.97249	2.768000	0.95171	0.655000	0.94253	CGG		0.423	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		A	23693447	G	A	23693447	3	1	333	1	0	0	0	0	1	0	0	0	12094	1116	39	1	799	1	PLK1	16	23693447	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	4812863	23693447	66661306	61	17875											
APOB48R	55911	genome.wustl.edu	37	16	28509450	28509450	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr16:28509450G>A	ENST00000431282.1	+	4	2987	c.2977G>A	c.(2977-2979)Gtg>Atg	p.V993M	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.V1002M|APOBR_ENST00000328423.5_Missense_Mutation_p.V993M|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	993					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AAGGAGTCGCGTGCACCTCTC	0.687																																																0			16											18	22	20					16																	28509450		2160	4263	6423	28416951	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2977G>A	16.37:g.28509450G>A	ENSP00000416094:p.Val993Met		28416951	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37		.	.	.	.	.	.	.	.	.	.	G	8.063	0.768506	0.15983	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.63744	-0.06;-0.06	4.63	3.68	0.42216	.	.	.	.	.	T	0.66752	0.2821	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.961;0.961	T	0.55283	-0.8165	9	0.87932	D	0	-4.5542	8.6521	0.34040	0.1073:0.0:0.8927:0.0	.	993;993	Q0VD83;Q9NS13	APOBR_HUMAN;.	M	993	ENSP00000327669:V993M;ENSP00000416094:V993M	ENSP00000327669:V993M	V	+	1	0	APOBR	28416951	0.097000	0.21791	0.012000	0.15200	0.109000	0.19521	3.370000	0.52372	0.948000	0.37687	0.457000	0.33378	GTG		0.687	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		A	28509450	G	A	28509450	3	1	333	1	0	0	0	0	1	0	0	0	786	1145	40	1	2991	1	APOB48R	16	28509450	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	4816003	28509450	61845303	62	17876											
ATP2A1	487	genome.wustl.edu	37	16	28913204	28913204	+	Silent	SNP	C	C	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr16:28913204C>T	ENST00000357084.3	+	16	2388	c.2121C>T	c.(2119-2121)gaC>gaT	p.D707D	ATP2A1_ENST00000536376.1_Silent_p.D582D|ATP2A1_ENST00000395503.4_Silent_p.D707D	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	707					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCGTCAATGACGCCCCTGCCC	0.532																																																0			16											56	47	50					16																	28913204		2197	4300	6497	28820705	SO:0001819	synonymous_variant	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2121C>T	16.37:g.28913204C>T			28820705	A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	CCDS10643.1																																																																																				0.532	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		T	28913204	C	T	28913204	2	4	333	1	0	0	0	0	0	0	0	1	1136	535	19	1		1	ATP2A1	16	28913204	Silent	SNP	C	TCGA-29-1703-01A-01W-0633-09	403754	28913204	61441549	63	17877											
TP53	7157	genome.wustl.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)	CGGATAAGATGCTGAGGAGGG	0.557		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"	85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	17											95	85	88					17																	7578272		2203	4300	6503	7518997	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.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr		7518997	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	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	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	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578272	G	A	7578272	3	1	333	1	0	0	0	0	1	0	0	0	16381	1319	46	2	717	2	TP53	17	7578272	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09		7578272	73616938	64	17878											
C17orf68	80169	genome.wustl.edu	37	17	8138137	8138137	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr17:8138137G>A	ENST00000315684.8	-	9	1554	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	516					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GCTGCCTGGCGGAGCTAGAAG	0.577																																																0			17											91	94	93					17																	8138137		1954	4145	6099	8078862	SO:0001583	missense	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1547C>T	17.37:g.8138137G>A	ENSP00000313759:p.Pro516Leu		8078862	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.096808	0.36952	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82619	-1.63;-1.63	5.2	4.23	0.50019	.	0.086330	0.48767	D	0.000173	T	0.78597	0.4308	M	0.65975	2.015	0.28325	N	0.922072	B	0.31989	0.35	B	0.25614	0.062	T	0.74685	-0.3582	10	0.66056	D	0.02	-8.0759	9.7368	0.40392	0.0965:0.0:0.9035:0.0	.	516	Q2NKJ3	CTC1_HUMAN	L	516;481	ENSP00000313759:P516L;ENSP00000396018:P481L	ENSP00000313759:P516L	P	-	2	0	CTC1	8078862	0.872000	0.30054	0.142000	0.22268	0.783000	0.44284	3.591000	0.53986	1.223000	0.43536	0.598000	0.82781	CCG		0.577	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		A	8138137	G	A	8138137	3	1	333	1	0	0	0	0	1	0	0	0	1876	1116	39	1	2166	1	C17orf68	17	8138137	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	559865	8138137	73057073	65	17879											
KRTAP4-5	85289	genome.wustl.edu	37	17	39305911	39305911	+	Missense_Mutation	SNP	G	G	A	rs557154279|rs141058010	byFrequency	TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr17:39305911G>A	ENST00000343246.4	-	1	143	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	37	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGGGCGGCAGCAGGTG	0.657																																																0			17											25	29	27					17																	39305911		2176	4272	6448	36559437	SO:0001583	missense	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.109C>T	17.37:g.39305911G>A	ENSP00000340546:p.Arg37Cys		36559437		Missense_Mutation	SNP	ENST00000343246.4	37	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	12.13	1.844454	0.32606	.	.	ENSG00000198271	ENST00000343246	T	0.01455	4.87	3.22	-1.8	0.07907	.	2.080600	0.03668	U	0.243553	T	0.02767	0.0083	L	0.57536	1.79	0.18873	N	0.999989	B	0.18461	0.028	B	0.12837	0.008	T	0.47045	-0.9147	10	0.56958	D	0.05	.	5.7249	0.18008	0.1011:0.0:0.4232:0.4757	.	37	Q9BYR2	KRA45_HUMAN	C	37	ENSP00000340546:R37C	ENSP00000340546:R37C	R	-	1	0	KRTAP4-5	36559437	0.000000	0.05858	0.674000	0.29902	0.928000	0.56348	-0.202000	0.09451	-0.272000	0.09259	0.556000	0.70494	CGC		0.657	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			A	39305911	G	A	39305911	3	1	333	1	0	0	0	0	1	0	0	0	8554	1116	39	1	440	1	KRTAP4-5	17	39305911	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	31167774	39305911	41889299	66	17880											
ETV4	2118	genome.wustl.edu	37	17	41610582	41610582	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr17:41610582G>T	ENST00000319349.5	-	7	816	c.518C>A	c.(517-519)cCt>cAt	p.P173H	ETV4_ENST00000545089.1_Intron|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000591713.1_Missense_Mutation_p.P173H|ETV4_ENST00000545954.1_Missense_Mutation_p.P134H|ETV4_ENST00000538265.1_Missense_Mutation_p.P134H|ETV4_ENST00000393664.2_Missense_Mutation_p.P173H	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	173	Gln-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CCCATGGCCAGGGTGGGGCTG	0.587			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)		Dom	yes		17	17q21	2118	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"		"M, E"	0			17											64	64	64					17																	41610582		2203	4300	6503	38966108	SO:0001583	missense	2118			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.518C>A	17.37:g.41610582G>T	ENSP00000321835:p.Pro173His		38966108	A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239503	0.58995	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.6	4.63	0.57726	PEA3-type ETS-domain transcription factor, N-terminal (1);	1.369320	0.04265	N	0.341010	T	0.44603	0.1301	L	0.46157	1.445	0.49213	D	0.999765	D;D	0.89917	0.998;1.0	D;D	0.72338	0.947;0.977	T	0.00267	-1.1863	10	0.87932	D	0	.	12.54	0.56163	0.0768:0.0:0.9232:0.0	.	134;173	B7Z5J3;P43268	.;ETV4_HUMAN	H	173;173;134;134	ENSP00000321835:P173H;ENSP00000377273:P173H;ENSP00000443846:P134H;ENSP00000440023:P134H	ENSP00000321835:P173H	P	-	2	0	ETV4	38966108	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.626000	0.83164	1.371000	0.46172	0.561000	0.74099	CCT		0.587	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		T	41610582	G	T	41610582	3	4	333	1	0	0	0	0	1	0	0	0	5281	1000	35	3	964	3	ETV4	17	41610582	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	2304671	41610582	39584628	67	17881											
EPB41L3	23136	genome.wustl.edu	37	18	5415927	5415927	+	Missense_Mutation	SNP	C	C	T	rs201249884		TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr18:5415927C>T	ENST00000341928.2	-	13	2297	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A653T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	653	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGAGTGAGAGCGTATGGCACT	0.572																																																0			18						C	THR/ALA	0,4406		0,0,2203	168	120	136		1957	5.5	1	18		136	2,8598	2.2+/-6.3	0,2,4298	yes	missense	EPB41L3	NM_012307.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	653/1088	5415927	2,13004	2203	4300	6503	5405927	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1957G>A	18.37:g.5415927C>T	ENSP00000343158:p.Ala653Thr		5405927	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796165	0.90453	0.0	2.33E-4	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82803	-1.65;-1.65	5.52	5.52	0.82312	.	0.164099	0.42172	D	0.000744	D	0.85146	0.5630	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.64506	0.926	D	0.87468	0.2412	10	0.87932	D	0	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	653	Q9Y2J2	E41L3_HUMAN	T	653	ENSP00000343158:A653T;ENSP00000341138:A653T	ENSP00000343158:A653T	A	-	1	0	EPB41L3	5405927	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	5.920000	0.70017	2.586000	0.87340	0.563000	0.77884	GCT		0.572	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		T	5415927	C	T	5415927	3	4	333	1	0	0	0	0	1	0	0	0	5154	768	27	1	1346	1	EPB41L3	18	5415927	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09		5415927	72661321	68	17882											
C19orf28	100128569	genome.wustl.edu	37	19	3542790	3542790	+	Intron	SNP	C	C	T			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr19:3542790C>T	ENST00000329493.5	+	2	107				MFSD12_ENST00000389395.3_Intron|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.G536R	NM_001135580.1	NP_001129052.1	A6NCJ1	CS071_HUMAN	chromosome 19 open reading frame 71											endometrium(2)	2						TAGTGGGTCCCCCAGTCTTCC	0.617																																																0			19											25	28	27					19																	3542790		1927	4120	6047	3493790	SO:0001627	intron_variant	126321				CCDS45918.1	19p13.3	2012-10-26			ENSG00000183397	ENSG00000183397			34496	protein-coding gene	gene with protein product							Standard	NM_001135580		Approved	LOC100128569	uc010xhm.2	A6NCJ1		ENST00000329493.5:c.84-443C>T	19.37:g.3542790C>T			3493790		Missense_Mutation	SNP	ENST00000329493.5	37	CCDS45918.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.153972	0.00325	.	.	ENSG00000161091	ENST00000398558	T	0.23147	1.92	1.59	0.444	0.16592	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B	0.30406	0.278	B	0.19666	0.026	T	0.32322	-0.9911	9	0.07482	T	0.82	.	4.9453	0.13985	0.3556:0.6444:0.0:0.0	.	536	A8MXP7	.	R	536	ENSP00000381566:G536R	ENSP00000381566:G536R	G	-	1	0	C19orf28	3493790	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.986000	0.03747	0.200000	0.20447	-0.518000	0.04402	GGG		0.617	C19orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452943.1	NM_001135580		T	3542790	C	T	3542790	1	4	333	0	1	0	0	0	0	0	0	0	1917	623	22	2		2	C19orf28	19	3542790	Intron	SNP	C	TCGA-29-1703-01A-01W-0633-09		3542790	55586193	69	17883											
MUC16	94025	genome.wustl.edu	37	19	9069560	9069560	+	Silent	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr19:9069560G>A	ENST00000397910.4	-	3	18089	c.17886C>T	c.(17884-17886)acC>acT	p.T5962T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5964	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTGCCAGAGGTGAGAAGGG	0.493																																																0			19											102	98	99					19																	9069560		1986	4150	6136	8930560	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17886C>T	19.37:g.9069560G>A			8930560	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9069560	G	A	9069560	2	1	333	1	0	0	0	0	0	0	0	1	9973	987	35	2		2	MUC16	19	9069560	Silent	SNP	G	TCGA-29-1703-01A-01W-0633-09	5526770	9069560	50059423	70	17884											
UNC13A	23025	genome.wustl.edu	37	19	17753742	17753742	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr19:17753742G>A	ENST00000519716.2	-	20	2383	c.2384C>T	c.(2383-2385)tCg>tTg	p.S795L	UNC13A_ENST00000551649.1_Missense_Mutation_p.S795L|UNC13A_ENST00000550896.1_Missense_Mutation_p.S793L|UNC13A_ENST00000552293.1_Missense_Mutation_p.S795L|UNC13A_ENST00000428389.2_Missense_Mutation_p.S883L|UNC13A_ENST00000252773.7_Missense_Mutation_p.S795L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	795					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GATGGCACCCGACACGGCAGA	0.502																																																0			19											46	48	47					19																	17753742		1967	4142	6109	17614742	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2384C>T	19.37:g.17753742G>A	ENSP00000429562:p.Ser795Leu		17614742	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946807	0.73672	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	3.32	3.32	0.38043	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000002	T	0.81936	0.4928	M	0.73962	2.25	0.52099	D	0.999943	D	0.89917	1.0	D	0.77557	0.99	D	0.84366	0.0541	10	0.87932	D	0	-11.7627	12.4707	0.55785	0.0:0.0:1.0:0.0	.	795	Q9UPW8	UN13A_HUMAN	L	795;883;795;795;795;793	ENSP00000429562:S795L;ENSP00000400409:S883L;ENSP00000252773:S795L;ENSP00000447236:S795L;ENSP00000447572:S795L;ENSP00000446831:S793L	ENSP00000252773:S795L	S	-	2	0	UNC13A	17614742	1.000000	0.71417	0.075000	0.20258	0.732000	0.41865	9.512000	0.98008	1.565000	0.49641	0.313000	0.20887	TCG		0.502	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		A	17753742	G	A	17753742	3	1	333	1	0	0	0	0	1	0	0	0	16984	1059	37	1	2823	1	UNC13A	19	17753742	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	8684182	17753742	41375241	71	17885											
ZNF574	64763	genome.wustl.edu	37	19	42584967	42584967	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr19:42584967G>A	ENST00000600245.1	+	2	2864	c.2209G>A	c.(2209-2211)Ggt>Agt	p.G737S	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.G737S|ZNF574_ENST00000222339.7_Missense_Mutation_p.G827S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	737					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCGCCGCCGGGGTCTAGAGTG	0.657																																																0			19											85	93	90					19																	42584967		2203	4300	6503	47276807	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2209G>A	19.37:g.42584967G>A	ENSP00000469029:p.Gly737Ser		47276807	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330364	0.41297	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.05925	3.37;3.38	5.5	4.46	0.54185	.	0.213638	0.32106	N	0.006567	T	0.04363	0.0120	N	0.01576	-0.805	0.35485	D	0.798464	B;P	0.45715	0.259;0.865	B;P	0.49665	0.087;0.618	T	0.50004	-0.8878	10	0.62326	D	0.03	-14.5903	11.3266	0.49452	0.0878:0.0:0.9122:0.0	.	737;826	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	S	827;737;344	ENSP00000222339:G827S;ENSP00000351939:G737S	ENSP00000222339:G827S	G	+	1	0	ZNF574	47276807	0.777000	0.28628	0.998000	0.56505	0.369000	0.29798	1.577000	0.36515	2.579000	0.87056	0.650000	0.86243	GGT		0.657	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		A	42584967	G	A	42584967	3	1	333	1	0	0	0	0	1	0	0	0	18006	1232	43	2	2211	2	ZNF574	19	42584967	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09	24831225	42584967	16544016	72	17886											
GZF1	64412	genome.wustl.edu	37	20	23350227	23350227	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chr20:23350227G>A	ENST00000338121.5	+	5	1711	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	GZF1_ENST00000377051.2_Missense_Mutation_p.R545H|GZF1_ENST00000544236.1_Missense_Mutation_p.R69H|GZF1_ENST00000542987.1_Missense_Mutation_p.R54H			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	545					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TCAGGGGAGCGTCCCTACTGC	0.572																																																0			20											119	119	119					20																	23350227		2203	4300	6503	23298227	SO:0001583	missense	64412			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1634G>A	20.37:g.23350227G>A	ENSP00000338290:p.Arg545His		23298227	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700652	0.96802	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.94	5.94	0.96194	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.213738	0.31461	N	0.007601	T	0.48390	0.1497	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38693	-0.9649	10	0.87932	D	0	.	19.3398	0.94336	0.0:0.0:1.0:0.0	.	545	Q9H116	GZF1_HUMAN	H	69;545;54;545	ENSP00000445458:R69H;ENSP00000338290:R545H;ENSP00000445118:R54H;ENSP00000366250:R545H	ENSP00000338290:R545H	R	+	2	0	GZF1	23298227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.810000	0.99221	2.818000	0.97014	0.650000	0.86243	CGT		0.572	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		A	23350227	G	A	23350227	3	1	333	1	0	0	0	0	1	0	0	0	6914	1145	40	1	1648	1	GZF1	20	23350227	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09		23350227	39675293	73	17887											
FAM120C	54954	genome.wustl.edu	37	X	54143030	54143030	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chrX:54143030G>A	ENST00000375180.2	-	10	2316	c.2260C>T	c.(2260-2262)Ctc>Ttc	p.L754F	FAM120C_ENST00000328235.4_Missense_Mutation_p.L754F	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	754							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTGGATTGAGCATACTGGGC	0.512																																																0			X											137	98	111					X																	54143030		2203	4300	6503	54159755	SO:0001583	missense	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2260C>T	X.37:g.54143030G>A	ENSP00000364324:p.Leu754Phe		54159755	B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321913	0.81580	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.49139	0.79;0.79	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.71656	0.946;0.974	T	0.69628	-0.5094	10	0.72032	D	0.01	-7.5205	15.4059	0.74877	0.0:0.0:1.0:0.0	.	754;754	F8W881;Q9NX05	.;F120C_HUMAN	F	754	ENSP00000364324:L754F;ENSP00000329896:L754F	ENSP00000329896:L754F	L	-	1	0	FAM120C	54159755	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.159000	0.64923	1.955000	0.56771	0.523000	0.50628	CTC		0.512	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		A	54143030	G	A	54143030	3	1	333	1	0	0	0	0	1	0	0	0	5418	971	34	2	1058	2	FAM120C	23	54143030	Missense_Mutation	SNP	G	TCGA-29-1703-01A-01W-0633-09		54143030	101127530	74	17888											
PCDH19	57526	genome.wustl.edu	37	X	99551783	99551783	+	Missense_Mutation	SNP	C	C	T	rs368872920		TCGA-29-1703-01A-01W-0633-09	TCGA-29-1703-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	46e36fef-5bf6-467c-983d-2fc7396297a1	f13cee08-0d13-4bad-812c-cf44de94e731	g.chrX:99551783C>T	ENST00000373034.4	-	6	4614	c.2939G>A	c.(2938-2940)cGt>cAt	p.R980H	PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000420881.2_Missense_Mutation_p.R932H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R933H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	980			R -> C (in dbSNP:rs3764758). {ECO:0000269|PubMed:22267240}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGACTTGGAACGGATGGGCAT	0.547																																																0			X						C	HIS/ARG,HIS/ARG,HIS/ARG	0,3578		0,0,1504,570	70	67	68		2798,2939,2795	5.8	1	X		68	1,6588		0,1,2383,1821	no	missense,missense,missense	PCDH19	NM_001105243.1,NM_001184880.1,NM_020766.2	29,29,29	0,1,3887,2391	TT,TC,CC,C		0.0152,0.0,0.0098	probably-damaging,probably-damaging,probably-damaging	933/1102,980/1149,932/1101	99551783	1,10166	2074	4205	6279	99438439	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2939G>A	X.37:g.99551783C>T	ENSP00000362125:p.Arg980His		99438439	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882982	0.33255	0.0	1.52E-4	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54479	0.6;0.64;0.57	5.84	5.84	0.93424	.	0.118844	0.52532	D	0.000064	T	0.68879	0.3049	L	0.54323	1.7	0.80722	D	1	P;D;D	0.89917	0.941;1.0;1.0	P;D;D	0.70716	0.482;0.97;0.935	T	0.65549	-0.6141	10	0.37606	T	0.19	.	19.1326	0.93413	0.0:1.0:0.0:0.0	.	980;933;932	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	H	932;980;933	ENSP00000400327:R932H;ENSP00000362125:R980H;ENSP00000255531:R933H	ENSP00000255531:R933H	R	-	2	0	PCDH19	99438439	1.000000	0.71417	0.982000	0.44146	0.601000	0.36947	5.713000	0.68415	2.469000	0.83416	0.600000	0.82982	CGT		0.547	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		T	99551783	C	T	99551783	3	4	333	1	0	0	0	0	1	0	0	0	11514	536	19	1	511	1	PCDH19	23	99551783	Missense_Mutation	SNP	C	TCGA-29-1703-01A-01W-0633-09	45408753	99551783	55718777	75	17889											
PRAMEF1	65121	genome.wustl.edu	37	1	12856112	12856112	+	Silent	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:12856112G>A	ENST00000332296.7	+	4	1495	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	PRAMEF1_ENST00000400814.3_Silent_p.P219P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	464					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCATCACCGTCTGAGGAAC	0.557																																																0			1																																								12778699	SO:0001819	synonymous_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1392G>A	1.37:g.12856112G>A			12778699	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																				0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12856112	G	A	12856112	2	1	334	1	0	0	0	0	0	0	0	1	12428	1132	40	1		1	PRAMEF1	1	12856112	Silent	SNP	G	TCGA-29-1705-01A-01W-0633-09		12856112	236394509	1	17890											
PRAMEF2	65122	genome.wustl.edu	37	1	12921601	12921601	+	Silent	SNP	G	G	A	rs534677823		TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:12921601G>A	ENST00000240189.2	+	4	1479	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	464					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCATCACCGTCTGAGGAAC	0.552													G|||	1	0.000199681	0	0	5008	,	,		23087	0.001		0	False		,,,				2504	0															0			1											23	27	26					1																	12921601		2008	4139	6147	12844188	SO:0001819	synonymous_variant	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1392G>A	1.37:g.12921601G>A			12844188		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																				0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		A	12921601	G	A	12921601	2	1	334	1	0	0	0	0	0	0	0	1	12438	1132	40	1		1	PRAMEF2	1	12921601	Silent	SNP	G	TCGA-29-1705-01A-01W-0633-09	65489	12921601	236329020	2	17891											
FAM72B	653820	genome.wustl.edu	37	1	120846087	120846087	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:120846087C>T	ENST00000369390.3	+	3	1152	c.323C>T	c.(322-324)gCa>gTa	p.A108V	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.A68V	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	108										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CACAGCCAGGCAGTTTATGAT	0.388																																																0			1											170	164	166					1																	120846087		1827	4085	5912	120647610	SO:0001583	missense	653820			AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.323C>T	1.37:g.120846087C>T	ENSP00000358397:p.Ala108Val		120647610	B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300580	0.60195	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.35605	1.3;1.3;1.3	2.54	2.54	0.30619	.	0.066186	0.64402	U	0.000012	T	0.23572	0.0570	M	0.64997	1.995	0.49299	D	0.999776	B;P	0.42692	0.361;0.787	B;B	0.41088	0.214;0.347	T	0.14392	-1.0474	10	0.72032	D	0.01	.	10.8119	0.46551	0.0:1.0:0.0:0.0	.	108;68	Q86X60;Q86X60-2	FA72B_HUMAN;.	V	79;108;79;68	ENSP00000358397:A108V;ENSP00000392882:A79V;ENSP00000347368:A68V	ENSP00000347368:A68V	A	+	2	0	FAM72B	120647610	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	7.148000	0.77389	1.431000	0.47355	0.398000	0.26397	GCA		0.388	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			T	120846087	C	T	120846087	3	4	334	1	0	0	0	0	1	0	0	0	5615	710	25	2	333	2	FAM72B	1	120846087	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09	107924486	120846087	128404534	3	17892											
IKBKE	9641	genome.wustl.edu	37	1	206666629	206666629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:206666629C>T	ENST00000367120.3	+	20	2336	c.1963C>T	c.(1963-1965)Cag>Tag	p.Q655*	IKBKE_ENST00000537984.1_Nonsense_Mutation_p.Q570*|C1orf147_ENST00000367119.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	655					immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGCTCCTTCAGGACCGAGC	0.577																																																0			1											71	78	76					1																	206666629		2203	4300	6503	204733252	SO:0001587	stop_gained	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1963C>T	1.37:g.206666629C>T	ENSP00000356087:p.Gln655*		204733252	D3DT78|Q3B754|Q3KR43|Q5JTS6	Nonsense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	40	8.426954	0.98806	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	.	.	.	4.99	4.99	0.66335	.	1.085130	0.07014	N	0.825697	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-7.8746	13.9566	0.64152	0.0:1.0:0.0:0.0	.	.	.	.	X	655;570	.	ENSP00000356087:Q655X	Q	+	1	0	IKBKE	204733252	0.950000	0.32346	0.952000	0.39060	0.561000	0.35649	2.169000	0.42434	2.756000	0.94617	0.561000	0.74099	CAG		0.577	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			T	206666629	C	T	206666629	4	4	334	1	0	0	0	0	0	1	0	0	7612	827	29	2	2033	2	IKBKE	1	206666629	Nonsense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09	85820542	206666629	42583992	4	17893											
CD46	4179	genome.wustl.edu	37	1	207930359	207930359	+	Splice_Site	SNP	A	A	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:207930359A>G	ENST00000358170.2	+	2	254	c.98A>G	c.(97-99)gAt>gGt	p.D33G	CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Splice_Site_p.D33G|CD46_ENST00000367041.1_Splice_Site_p.D33G|CD46_ENST00000361067.1_Splice_Site_p.D33G|CD46_ENST00000367042.1_Splice_Site_p.D33G|CD46_ENST00000480003.1_Splice_Site_p.D33G|CD46_ENST00000441839.2_Splice_Site_p.D33G|CD46_ENST00000360212.2_Splice_Site_p.D33G|CD46_ENST00000354848.1_Splice_Site_p.D33G|CD46_ENST00000322918.5_Splice_Site_p.D33G|CD46_ENST00000367047.1_Intron|CD46_ENST00000357714.1_Splice_Site_p.D33G	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	33					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TTATCCCTAGATGCCTGTGAG	0.403																																																0			1											64	63	63					1																	207930359		2203	4300	6503	205996982	SO:0001630	splice_region_variant	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.98-1A>G	1.37:g.207930359A>G			205996982	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961855	0.53400	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T	0.35605	1.36;1.39;1.44;1.38;1.41;1.43;1.38;1.3;1.35;1.46;1.39	3.51	1.15	0.20763	Sushi/SCR/CCP (1);	0.477010	0.15918	N	0.238245	T	0.51652	0.1687	M	0.72894	2.215	0.27535	N	0.950965	D;P;D;B;B;B;D;B;D;D;D;D;B;B	0.89917	0.998;0.733;0.998;0.343;0.009;0.012;0.992;0.234;0.999;1.0;0.998;0.993;0.005;0.007	D;B;P;B;B;B;D;B;D;D;D;P;B;B	0.87578	0.972;0.254;0.889;0.25;0.02;0.016;0.951;0.134;0.972;0.998;0.972;0.879;0.011;0.007	T	0.36792	-0.9733	9	.	.	.	.	5.2124	0.15325	0.7506:0.0:0.2494:0.0	.	33;33;33;33;33;33;33;33;33;33;33;33;33;33	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	G	33	ENSP00000350893:D33G;ENSP00000346912:D33G;ENSP00000314664:D33G;ENSP00000356009:D33G;ENSP00000356008:D33G;ENSP00000350346:D33G;ENSP00000313875:D33G;ENSP00000413543:D33G;ENSP00000354358:D33G;ENSP00000353342:D33G;ENSP00000418471:D33G	.	D	+	2	0	CD46	205996982	1.000000	0.71417	0.995000	0.50966	0.178000	0.23041	1.144000	0.31565	0.226000	0.20979	0.402000	0.26972	GAT		0.403	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	Missense_Mutation	G	207930359	A	G	207930359	5	3	334	1	0	0	0	0	0	0	1	0	3018	347	12	4	104	4	CD46	1	207930359	Splice_Site	SNP	A	TCGA-29-1705-01A-01W-0633-09	1263730	207930359	41320262	5	17894											
LRPPRC	10128	genome.wustl.edu	37	2	44175275	44175275	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:44175275G>C	ENST00000260665.7	-	18	1963	c.1906C>G	c.(1906-1908)Cct>Gct	p.P636A		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	636					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATCAATTCAGGAACATGGTAG	0.343																																																0			2											91	96	94					2																	44175275		2202	4300	6502	44028779	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1906C>G	2.37:g.44175275G>C	ENSP00000260665:p.Pro636Ala		44028779	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510977	0.64522	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.58652	0.32	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.76534	-0.2924	10	0.39692	T	0.17	-9.5699	19.9929	0.97374	0.0:0.0:1.0:0.0	.	536;636	F5H4J6;P42704	.;LPPRC_HUMAN	A	536;636	ENSP00000260665:P636A	ENSP00000260665:P636A	P	-	1	0	LRPPRC	44028779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.167000	0.94773	2.794000	0.96219	0.655000	0.94253	CCT		0.343	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		C	44175275	G	C	44175275	3	2	334	1	0	0	0	0	1	0	0	0	8965	1174	41	3	2362	3	LRPPRC	2	44175275	Missense_Mutation	SNP	G	TCGA-29-1705-01A-01W-0633-09		44175275	199024098	6	17895											
DPP10	57628	genome.wustl.edu	37	2	116548888	116548888	+	Silent	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:116548888C>G	ENST00000410059.1	+	19	2136	c.1656C>G	c.(1654-1656)ccC>ccG	p.P552P	DPP10_ENST00000310323.8_Silent_p.P545P|DPP10_ENST00000393147.2_Silent_p.P556P|DPP10_ENST00000409163.1_Silent_p.P502P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	552						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGTCCCTTCCCAAAGATTTTA	0.294																																																0			2											92	96	95					2																	116548888		2202	4299	6501	116265358	SO:0001819	synonymous_variant	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1656C>G	2.37:g.116548888C>G			116265358	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	CCDS46400.1																																																																																				0.294	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		G	116548888	C	G	116548888	2	3	334	1	0	0	0	0	0	0	0	1	4727	581	21	3		3	DPP10	2	116548888	Silent	SNP	C	TCGA-29-1705-01A-01W-0633-09	72373613	116548888	126650485	7	17896											
BIN1	274	genome.wustl.edu	37	2	127827645	127827645	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:127827645C>G	ENST00000316724.5	-	5	748	c.337G>C	c.(337-339)Gat>Cat	p.D113H	BIN1_ENST00000348750.4_Missense_Mutation_p.D113H|BIN1_ENST00000351659.3_Missense_Mutation_p.D113H|BIN1_ENST00000409400.1_Missense_Mutation_p.D113H|BIN1_ENST00000393041.3_Missense_Mutation_p.D113H|BIN1_ENST00000346226.3_Missense_Mutation_p.D113H|BIN1_ENST00000376113.2_Missense_Mutation_p.D113H|BIN1_ENST00000393040.3_Missense_Mutation_p.D113H|BIN1_ENST00000357970.3_Missense_Mutation_p.D113H|BIN1_ENST00000352848.3_Missense_Mutation_p.D113H|BIN1_ENST00000259238.4_Missense_Mutation_p.D113H	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	113	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with BIN2.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGGTGGTAATCCATCCACAGC	0.627																																																0			2											122	96	105					2																	127827645		2203	4300	6503	127544115	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.337G>C	2.37:g.127827645C>G	ENSP00000316779:p.Asp113His		127544115	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	.	28.2	4.897733	0.91962	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.8	4.8	0.61643	BAR (3);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D;P;D;D;D;P	0.71674	0.989;0.998;0.971;0.995;0.987;0.996;0.988;0.995;0.869;0.984;0.987;0.987;0.845	D;D;P;P;P;D;D;P;P;D;P;P;P	0.68192	0.953;0.942;0.741;0.904;0.809;0.956;0.951;0.904;0.468;0.924;0.816;0.816;0.759	T	0.81491	-0.0909	10	0.87932	D	0	-13.3645	16.8015	0.85615	0.0:1.0:0.0:0.0	.	113;89;113;113;113;113;113;113;113;113;113;113;113	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	H	113	ENSP00000365281:D113H;ENSP00000350654:D113H;ENSP00000376760:D113H;ENSP00000259237:D113H;ENSP00000259238:D113H;ENSP00000315411:D113H;ENSP00000376761:D113H;ENSP00000315388:D113H;ENSP00000315284:D113H;ENSP00000316779:D113H;ENSP00000386797:D113H	ENSP00000259238:D113H	D	-	1	0	BIN1	127544115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.365000	0.79537	2.501000	0.84356	0.556000	0.70494	GAT		0.627	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		G	127827645	C	G	127827645	3	3	334	1	0	0	0	0	1	0	0	0	1432	855	30	3	1553	3	BIN1	2	127827645	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09	11278757	127827645	115371728	8	17897											
MFF	56947	genome.wustl.edu	37	2	228205024	228205024	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:228205024G>A	ENST00000353339.3	+	6	887	c.446G>A	c.(445-447)aGa>aAa	p.R149K	MFF_ENST00000349901.7_Missense_Mutation_p.R123K|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000304593.9_Missense_Mutation_p.R123K|MFF_ENST00000409616.1_Missense_Mutation_p.R123K|MFF_ENST00000337110.7_Missense_Mutation_p.R123K|MFF_ENST00000354503.6_Missense_Mutation_p.R123K|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409565.1_Missense_Mutation_p.R123K|MFF_ENST00000392059.1_Missense_Mutation_p.R149K	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	149					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.R149T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GCAGTTGGCAGACTAAAAAGA	0.418																																																1	Substitution - Missense(1)	breast(1)	2											83	78	80					2																	228205024		2203	4300	6503	227913268	SO:0001583	missense	56947			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.446G>A	2.37:g.228205024G>A	ENSP00000302037:p.Arg149Lys		227913268	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392026	0.42410	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.33216	1.42;1.42	5.95	5.95	0.96441	.	0.146312	0.64402	D	0.000014	T	0.27559	0.0677	L	0.34521	1.04	0.35419	D	0.793106	B;B;B;B;B;P	0.39883	0.002;0.014;0.009;0.0;0.126;0.693	B;B;B;B;B;B	0.40659	0.006;0.027;0.006;0.002;0.039;0.336	T	0.21965	-1.0230	10	0.27785	T	0.31	.	15.1469	0.72662	0.0:0.0:0.8588:0.1412	.	123;123;123;123;123;149	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	K	123;149;123;123;123;123;123;123;149;6	ENSP00000302037:R149K;ENSP00000375912:R149K	ENSP00000304898:R123K	R	+	2	0	MFF	227913268	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.412000	0.59787	2.824000	0.97209	0.655000	0.94253	AGA		0.418	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		A	228205024	G	A	228205024	3	1	334	1	0	0	0	0	1	0	0	0	9519	942	33	2	460	2	MFF	2	228205024	Missense_Mutation	SNP	G	TCGA-29-1705-01A-01W-0633-09	100377379	228205024	14994349	9	17898											
PASK	23178	genome.wustl.edu	37	2	242076503	242076503	+	Silent	SNP	G	G	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:242076503G>C	ENST00000405260.1	-	7	1751	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	PASK_ENST00000234040.4_Silent_p.L351L|PASK_ENST00000539818.1_Silent_p.L135L|PASK_ENST00000544142.1_Silent_p.L165L|PASK_ENST00000403638.3_Silent_p.L351L|PASK_ENST00000358649.4_Silent_p.L351L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	351	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CATCCGGCAGGAGGGTGATGA	0.647																																																0			2											77	73	75					2																	242076503		2203	4300	6503	241725176	SO:0001819	synonymous_variant	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1053C>G	2.37:g.242076503G>C			241725176	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	9.920	1.211846	0.22289	.	.	ENSG00000115687	ENST00000433589	.	.	.	5.19	-6.58	0.01836	.	.	.	.	.	T	0.47728	0.1461	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50890	-0.8774	4	.	.	.	.	7.4812	0.27406	0.3975:0.4408:0.1617:0.0	.	.	.	.	C	166	.	.	S	-	2	0	PASK	241725176	0.304000	0.24472	0.892000	0.35008	0.789000	0.44602	-0.798000	0.04565	-1.156000	0.02818	0.591000	0.81541	TCC		0.647	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		C	242076503	G	C	242076503	2	2	334	1	0	0	0	0	0	0	0	1	11472	1161	41	3		3	PASK	2	242076503	Silent	SNP	G	TCGA-29-1705-01A-01W-0633-09	13871479	242076503	1122870	10	17899											
ZNF80	7634	genome.wustl.edu	37	3	113955598	113955598	+	Silent	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr3:113955598C>T	ENST00000482457.2	-	1	827	c.324G>A	c.(322-324)gtG>gtA	p.V108V	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCCCGCACTCCACGCACTTAC	0.547																																					GBM(23;986 1114 21716)											0			3											60	53	55					3																	113955598		2203	4300	6503	115438288	SO:0001819	synonymous_variant	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.324G>A	3.37:g.113955598C>T			115438288	Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	CCDS2979.1																																																																																				0.547	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		T	113955598	C	T	113955598	2	4	334	1	0	0	0	0	0	0	0	1	18168	581	21	2		2	ZNF80	3	113955598	Silent	SNP	C	TCGA-29-1705-01A-01W-0633-09		113955598	84066832	11	17900											
OSBPL11	114885	genome.wustl.edu	37	3	125250808	125250808	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr3:125250808T>C	ENST00000296220.5	-	12	2364	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	692					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTCTGTGGCCTTATCAATTTC	0.383																																																0			3											161	149	153					3																	125250808		2203	4300	6503	126733498	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.2075A>G	3.37:g.125250808T>C	ENSP00000296220:p.Lys692Arg		126733498	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891977	0.33442	.	.	ENSG00000144909	ENST00000296220	T	0.30714	1.52	4.59	3.43	0.39272	.	0.119378	0.53938	N	0.000049	T	0.20536	0.0494	L	0.38692	1.165	0.46725	D	0.999173	B	0.12630	0.006	B	0.16289	0.015	T	0.05767	-1.0865	10	0.19147	T	0.46	-8.7579	7.6307	0.28238	0.0:0.165:0.0:0.835	.	692	Q9BXB4	OSB11_HUMAN	R	692	ENSP00000296220:K692R	ENSP00000296220:K692R	K	-	2	0	OSBPL11	126733498	0.998000	0.40836	0.965000	0.40720	0.915000	0.54546	2.700000	0.47085	0.907000	0.36646	0.379000	0.24179	AAG		0.383	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		C	125250808	T	C	125250808	3	2	334	1	0	0	0	0	1	0	0	0	11276	1609	56	4	176	4	OSBPL11	3	125250808	Missense_Mutation	SNP	T	TCGA-29-1705-01A-01W-0633-09	11295210	125250808	72771622	12	17901											
POLR2B	5431	genome.wustl.edu	37	4	57871580	57871580	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr4:57871580T>A	ENST00000381227.1	+	9	1482	c.1069T>A	c.(1069-1071)Tgt>Agt	p.C357S	POLR2B_ENST00000441246.2_Missense_Mutation_p.C350S|RNU6-998P_ENST00000515894.1_RNA|POLR2B_ENST00000431623.2_Missense_Mutation_p.C282S|POLR2B_ENST00000314595.5_Missense_Mutation_p.C357S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	357					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CAGTGATTTTTGTGAGACCAA	0.328																																																0			4											122	128	126					4																	57871580		2203	4300	6503	57566337	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1069T>A	4.37:g.57871580T>A	ENSP00000370625:p.Cys357Ser		57566337	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996275	0.54147	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.77	5.77	0.91146	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.039217	0.85682	D	0.000000	T	0.69958	0.3169	L	0.35542	1.07	0.80722	D	1	B;B	0.34349	0.345;0.45	B;B	0.43783	0.431;0.431	T	0.64305	-0.6439	10	0.09338	T	0.73	.	16.3818	0.83467	0.0:0.0:0.0:1.0	.	282;357	C9J4M6;P30876	.;RPB2_HUMAN	S	357;282;350;357	ENSP00000370625:C357S;ENSP00000391096:C282S;ENSP00000391452:C350S;ENSP00000312735:C357S	ENSP00000312735:C357S	C	+	1	0	POLR2B	57566337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.140000	0.71738	2.330000	0.79161	0.528000	0.53228	TGT		0.328	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		A	57871580	T	A	57871580	3	1	334	1	0	0	0	0	1	0	0	0	12215	1812	63	5	1099	5	POLR2B	4	57871580	Missense_Mutation	SNP	T	TCGA-29-1705-01A-01W-0633-09		57871580	133282696	13	17902											
EDIL3	10085	genome.wustl.edu	37	5	83239362	83239362	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr5:83239362T>C	ENST00000296591.5	-	11	1737	c.1319A>G	c.(1318-1320)gAc>gGc	p.D440G	EDIL3_ENST00000380138.3_Missense_Mutation_p.D430G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	440	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCTGTGAGTGTCATTGTCAAA	0.413																																																0			5											125	119	121					5																	83239362		2203	4300	6503	83275118	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1319A>G	5.37:g.83239362T>C	ENSP00000296591:p.Asp440Gly		83275118	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940639	0.73557	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98150	-4.75;-4.75	5.69	5.69	0.88448	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.045373	0.85682	D	0.000000	D	0.95560	0.8557	L	0.35288	1.05	0.80722	D	1	B;P	0.36183	0.356;0.542	B;B	0.38755	0.197;0.281	D	0.95382	0.8474	10	0.48119	T	0.1	-28.4128	15.9518	0.79846	0.0:0.0:0.0:1.0	.	430;440	O43854-2;O43854	.;EDIL3_HUMAN	G	440;430	ENSP00000296591:D440G;ENSP00000369483:D430G	ENSP00000296591:D440G	D	-	2	0	EDIL3	83275118	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.606000	0.82863	2.180000	0.69256	0.533000	0.62120	GAC		0.413	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		C	83239362	T	C	83239362	3	2	334	1	0	0	0	0	1	0	0	0	4915	1667	58	4	127	4	EDIL3	5	83239362	Missense_Mutation	SNP	T	TCGA-29-1705-01A-01W-0633-09		83239362	97675898	14	17903											
HIST1H2AD	3013	genome.wustl.edu	37	6	26199361	26199361	+	Silent	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr6:26199361C>T	ENST00000341023.1	-	1	110	c.111G>A	c.(109-111)aaG>aaA	p.K37K	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	37						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				AGTAGTTGCCCTTGCGGAGCA	0.687																																																0			6											27	32	30					6																	26199361		2203	4300	6503	26307340	SO:0001819	synonymous_variant	3013			Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"Histones / Replication-dependent"	4729	protein-coding gene	gene with protein product		602792	"H2A histone family, member G", "histone 1, H2ad"	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.111G>A	6.37:g.26199361C>T			26307340	A0PK91|P57754|Q6FGY6	Silent	SNP	ENST00000341023.1	37	CCDS4591.1																																																																																				0.687	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		T	26199361	C	T	26199361	2	4	334	1	0	0	0	0	0	0	0	1	7131	680	24	2		2	HIST1H2AD	6	26199361	Silent	SNP	C	TCGA-29-1705-01A-01W-0633-09		26199361	144915706	15	17904											
FGD2	221472	genome.wustl.edu	37	6	36979622	36979622	+	Silent	SNP	G	G	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr6:36979622G>C	ENST00000274963.8	+	4	690	c.519G>C	c.(517-519)ctG>ctC	p.L173L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	173	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCGGCGCCTGGACGACTGGT	0.617																																																0			6											82	63	69					6																	36979622		2203	4300	6503	37087600	SO:0001819	synonymous_variant	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.519G>C	6.37:g.36979622G>C			37087600	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	CCDS4829.1																																																																																				0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		C	36979622	G	C	36979622	2	2	334	1	0	0	0	0	0	0	0	1	5833	1335	47	3		3	FGD2	6	36979622	Silent	SNP	G	TCGA-29-1705-01A-01W-0633-09	10780261	36979622	134135445	16	17905	24	2									
FGD2	221472	genome.wustl.edu	37	6	36979630	36979634	+	Splice_Site	DEL	GGTGA	GGTGA	-			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	GGTGA	GGTGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr6:36979630_36979634delGGTGA	ENST00000274963.8	+	4	698	c.527delGGTGA	c.(526-528)tgg>tg	p.W176fs		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	176	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTGGACGACTGGTGAGGTCCACCAG	0.624																																																0			6																																								37087612	SO:0001630	splice_region_variant	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.527+1GGTGA>-	6.37:g.36979630_36979634delGGTGA			37087608	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Frame_Shift_Del	DEL	ENST00000274963.8	37	CCDS4829.1																																																																																				0.624	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558	Frame_Shift_Del	-	36979634	GGTGA	-	36979630	8	5	334	1	0	1	0	1	0	0	1	0	5833	1362	47	0	541	0	FGD2	6	36979630	Splice_Site	DEL	GGTGA	TCGA-29-1705-01A-01W-0633-09	8	36979630	134135437	17	17906	24	2									
LRFN2	57497	genome.wustl.edu	37	6	40400040	40400040	+	Silent	SNP	G	G	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr6:40400040G>T	ENST00000338305.6	-	2	1355	c.813C>A	c.(811-813)ctC>ctA	p.L271L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	271	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGACCCTTGAGGCCCCCTG	0.602																																																0			6											39	41	40					6																	40400040		2203	4300	6503	40508018	SO:0001819	synonymous_variant	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.813C>A	6.37:g.40400040G>T			40508018	A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	CCDS34443.1																																																																																				0.602	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40400040	G	T	40400040	2	4	334	1	0	0	0	0	0	0	0	1	8938	1277	45	3		3	LRFN2	6	40400040	Silent	SNP	G	TCGA-29-1705-01A-01W-0633-09	3420410	40400040	130715027	18	17907											
ORC5L	5001	genome.wustl.edu	37	7	103801604	103801604	+	Silent	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr7:103801604T>C	ENST00000297431.4	-	12	1207	c.1065A>G	c.(1063-1065)aaA>aaG	p.K355K	ORC5_ENST00000545943.1_Silent_p.K223K	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	355					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTGGAAATGGTTTTGGCCCAA	0.363																																																0			7											122	124	123					7																	103801604		2203	4300	6503	103588840	SO:0001819	synonymous_variant	5001				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.1065A>G	7.37:g.103801604T>C			103588840	A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	CCDS5734.1																																																																																				0.363	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		C	103801604	T	C	103801604	2	2	334	1	0	0	0	0	0	0	0	1	11265	1722	60	4		4	ORC5L	7	103801604	Silent	SNP	T	TCGA-29-1705-01A-01W-0633-09		103801604	55337059	19	17908											
EXOC4	60412	genome.wustl.edu	37	7	133749276	133749276	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr7:133749276G>A	ENST00000253861.4	+	18	2949	c.2920G>A	c.(2920-2922)Gtt>Att	p.V974I	EXOC4_ENST00000541309.1_Missense_Mutation_p.V262I|EXOC4_ENST00000539845.1_Missense_Mutation_p.V873I|EXOC4_ENST00000545148.1_Missense_Mutation_p.V584I	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	974					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GATAACTACCGTTTAGCAGGG	0.502																																																0			7											91	81	85					7																	133749276		2203	4300	6503	133399816	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2920G>A	7.37:g.133749276G>A	ENSP00000253861:p.Val974Ile		133399816	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231739	0.95207	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	N	0.14661	0.345	0.58432	D	0.999997	D;D;D	0.76494	0.981;0.999;0.968	D;D;P	0.76071	0.931;0.987;0.854	T	0.70167	-0.4946	9	0.87932	D	0	.	18.7424	0.91779	0.0:0.0:1.0:0.0	.	506;584;974	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	I	974;593;873;584;262	.	ENSP00000253861:V974I	V	+	1	0	EXOC4	133399816	1.000000	0.71417	0.090000	0.20809	0.180000	0.23129	9.218000	0.95166	2.642000	0.89623	0.650000	0.86243	GTT		0.502	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		A	133749276	G	A	133749276	3	1	334	1	0	0	0	0	1	0	0	0	5306	1145	40	1	2999	1	EXOC4	7	133749276	Missense_Mutation	SNP	G	TCGA-29-1705-01A-01W-0633-09	29947672	133749276	25389387	20	17909											
ZHX2	22882	genome.wustl.edu	37	8	123965432	123965432	+	Missense_Mutation	SNP	G	G	A	rs138450443	byFrequency	TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr8:123965432G>A	ENST00000314393.4	+	3	2517	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	561					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GAACTGGATCGGCTAAGGGTG	0.493																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)											0			8						G	GLN/ARG	0,4406		0,0,2203	59	63	62		1682	4.1	0.6	8	dbSNP_134	62	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ZHX2	NM_014943.3	43	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	possibly-damaging	561/838	123965432	7,12999	2203	4300	6503	124034613	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1682G>A	8.37:g.123965432G>A	ENSP00000314709:p.Arg561Gln		124034613		Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280696	0.59758	0.0	8.14E-4	ENSG00000178764	ENST00000314393	D	0.95853	-3.83	5.94	4.11	0.48088	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.389466	0.27539	N	0.018914	D	0.92192	0.7524	M	0.64567	1.98	0.36507	D	0.86938	B	0.23377	0.084	B	0.12837	0.008	D	0.87935	0.2713	10	0.21014	T	0.42	-15.1613	7.8998	0.29727	0.1384:0.1336:0.728:0.0	.	561	Q9Y6X8	ZHX2_HUMAN	Q	561	ENSP00000314709:R561Q	ENSP00000314709:R561Q	R	+	2	0	ZHX2	124034613	0.992000	0.36948	0.620000	0.29132	0.997000	0.91878	2.956000	0.49129	0.818000	0.34468	0.561000	0.74099	CGG		0.493	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		A	123965432	G	A	123965432	3	1	334	1	0	0	0	0	1	0	0	0	17676	1116	39	1	1684	1	ZHX2	8	123965432	Missense_Mutation	SNP	G	TCGA-29-1705-01A-01W-0633-09		123965432	22398590	21	17910											
EPPK1	83481	genome.wustl.edu	37	8	144943196	144943196	+	Missense_Mutation	SNP	C	C	T	rs74777588	byFrequency	TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr8:144943196C>T	ENST00000525985.1	-	2	4297	c.4226G>A	c.(4225-4227)cGg>cAg	p.R1409Q				P58107	EPIPL_HUMAN	epiplakin 1	1409						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCTGGTCCCGCGCACTGGG	0.607													c|||	16	0.00319489	0.0015	0.0043	5008	,	,		21532	0.001		0.0099	False		,,,				2504	0															0			8						T	GLN/ARG	7,4377		0,7,2185	34	39	37		4226	-5.3	0	8	dbSNP_132	37	84,8500		0,84,4208	yes	missense	EPPK1	NM_031308.1	43	0,91,6393	TT,TC,CC		0.9786,0.1597,0.7017	benign	1409/2420	144943196	91,12877	2192	4292	6484	145015184	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4226G>A	8.37:g.144943196C>T	ENSP00000436337:p.Arg1409Gln		145015184	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		12	0.005494505494505495	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	c	2.636	-0.285341	0.05605	0.001597	0.009786	ENSG00000227184	ENST00000525985	T	0.67345	-0.26	4.66	-5.3	0.02738	.	.	.	.	.	T	0.30947	0.0781	N	0.03209	-0.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27123	-1.0083	9	0.18710	T	0.47	.	14.8975	0.70654	0.0:0.2367:0.0:0.7633	.	1409	E9PPU0	.	Q	1409	ENSP00000436337:R1409Q	ENSP00000436337:R1409Q	R	-	2	0	EPPK1	145015184	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.571000	0.05889	-1.779000	0.01280	-2.807000	0.00112	CGG		0.607	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144943196	C	T	144943196	3	4	334	1	0	0	0	0	1	0	0	0	5190	652	23	1	3040	1	EPPK1	8	144943196	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09	20977764	144943196	1420826	22	17911											
GAPVD1	26130	genome.wustl.edu	37	9	128067372	128067372	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr9:128067372A>G	ENST00000495955.1	+	6	1350	c.1060A>G	c.(1060-1062)Act>Gct	p.T354A	GAPVD1_ENST00000312123.9_Missense_Mutation_p.T354A|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T354A|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T354A|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T354A|GAPVD1_ENST00000394084.1_Missense_Mutation_p.T354A|GAPVD1_ENST00000470056.1_Missense_Mutation_p.T354A|GAPVD1_ENST00000394105.2_Missense_Mutation_p.T354A|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T354A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	354					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTAGCAATGACTGGCTCTGA	0.418																																																0			9											111	104	106					9																	128067372		2203	4300	6503	127107193	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1060A>G	9.37:g.128067372A>G	ENSP00000419063:p.Thr354Ala		127107193	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	12.02|12.02|12.02	1.813879|1.813879|1.813879	0.32053|0.32053|0.32053	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	.|D;D;D;D;D;D;D;D;D;D|.	.|0.81996|.	.|-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.	5.18|5.18|5.18	5.18|5.18|5.18	0.71444|0.71444|0.71444	.|Rho GTPase activation protein (1);Ras GTPase-activating protein (1);|.	.|0.156294|.	.|0.56097|.	.|D|.	.|0.000023|.	T|T|.	0.42585|0.42585|.	0.1209|0.1209|.	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.38300|0.38300|0.38300	D|D|D	0.942962|0.942962|0.942962	.|B;B;B;B;B;B;B|.	.|0.11235|.	.|0.002;0.001;0.001;0.002;0.001;0.004;0.0|.	.|B;B;B;B;B;B;B|.	.|0.08055|.	.|0.002;0.001;0.002;0.002;0.002;0.003;0.001|.	T|T|.	0.44174|0.44174|.	-0.9345|-0.9345|.	5|10|.	.|0.12103|.	.|T|.	.|0.63|.	.|.|.	14.2059|14.2059|14.2059	0.65734|0.65734|0.65734	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|354;354;354;354;354;354;354|.	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65|.	.|.;GAPD1_HUMAN;.;.;.;.;.|.	G|A|W	184|354|216	.|ENSP00000377646:T354A;ENSP00000419767:T354A;ENSP00000377665:T354A;ENSP00000377664:T354A;ENSP00000265956:T354A;ENSP00000377645:T354A;ENSP00000419063:T354A;ENSP00000418747:T354A;ENSP00000297933:T354A;ENSP00000309582:T354A|.	.|ENSP00000265956:T354A|.	D|T|X	+|+|+	2|1|3	0|0|0	GAPVD1|GAPVD1|GAPVD1	127107193|127107193|127107193	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.951000|0.951000|0.951000	0.60555|0.60555|0.60555	3.952000|3.952000|3.952000	0.56691|0.56691|0.56691	1.958000|1.958000|1.958000	0.56883|0.56883|0.56883	0.374000|0.374000|0.374000	0.22700|0.22700|0.22700	GAC|ACT|TGA		0.418	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			G	128067372	A	G	128067372	3	3	334	1	0	0	0	0	1	0	0	0	6239	275	10	4	1070	4	GAPVD1	9	128067372	Missense_Mutation	SNP	A	TCGA-29-1705-01A-01W-0633-09		128067372	13146059	23	17912											
GTF3C4	9329	genome.wustl.edu	37	9	135555005	135555005	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr9:135555005G>A	ENST00000372146.4	+	2	2563	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	667					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCCAATGGAAGAGAAACTCCT	0.542																																					Pancreas(142;417 1875 11086 31973 47667)											0			9											88	84	85					9																	135555005		2203	4300	6503	134544826	SO:0001583	missense	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1999G>A	9.37:g.135555005G>A	ENSP00000361219:p.Glu667Lys		134544826	Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317623	0.60524	.	.	ENSG00000125484	ENST00000372146	T	0.54479	0.57	5.98	5.98	0.97165	.	0.096865	0.64402	D	0.000001	T	0.45357	0.1338	N	0.24115	0.695	0.50467	D	0.999874	P	0.48407	0.91	B	0.42462	0.388	T	0.47497	-0.9113	10	0.59425	D	0.04	-36.0237	19.0214	0.92917	0.0:0.0:1.0:0.0	.	667	Q9UKN8	TF3C4_HUMAN	K	667	ENSP00000361219:E667K	ENSP00000361219:E667K	E	+	1	0	GTF3C4	134544826	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.881000	0.69706	2.838000	0.97847	0.655000	0.94253	GAG		0.542	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			A	135555005	G	A	135555005	3	1	334	1	0	0	0	0	1	0	0	0	6875	943	33	2	2005	2	GTF3C4	9	135555005	Missense_Mutation	SNP	G	TCGA-29-1705-01A-01W-0633-09	7487633	135555005	5658426	24	17913											
TRDMT1	1787	genome.wustl.edu	37	10	17201171	17201171	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr10:17201171G>A	ENST00000377799.3	-	7	564	c.517C>T	c.(517-519)Cca>Tca	p.P173S	TRDMT1_ENST00000457442.2_Missense_Mutation_p.P92S|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_Missense_Mutation_p.A101V|TRDMT1_ENST00000412821.3_Missense_Mutation_p.P149S|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.P127S|TRDMT1_ENST00000358282.7_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	173	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	AAGGGTAATGGCTCTGACTGA	0.303																																																0			10											66	70	69					10																	17201171		2203	4300	6503	17241177	SO:0001583	missense	1787			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.517C>T	10.37:g.17201171G>A	ENSP00000367030:p.Pro173Ser		17241177	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.74|10.74	1.435858|1.435858	0.25813|0.25813	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000377766;ENST00000313936|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000525762	.|D;D;D;D;D	.|0.84146	.|-1.81;-1.81;-1.81;-1.81;-1.81	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.147132	.|0.64402	.|D	.|0.000011	T|T	0.80737|0.80737	0.4680|0.4680	L|L	0.37507|0.37507	1.11|1.11	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.24618	.|0.002;0.063;0.003;0.107;0.003;0.003	.|B;B;B;B;B;B	.|0.26310	.|0.005;0.068;0.002;0.023;0.001;0.002	T|T	0.74668|0.74668	-0.3588|-0.3588	5|10	.|0.19147	.|T	.|0.46	-5.3297|-5.3297	19.4133|19.4133	0.94685|0.94685	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|102;92;173;127;149;173	.|B7Z1Y7;E7EMI8;Q6ICS7;O14717-3;O14717-2;O14717	.|.;.;.;.;.;TRDMT_HUMAN	V|S	101;106|173;149;127;92;131	.|ENSP00000367030:P173S;ENSP00000409354:P149S;ENSP00000324328:P127S;ENSP00000412256:P92S;ENSP00000431476:P131S	.|ENSP00000324328:P127S	A|P	-|-	2|1	0|0	TRDMT1|TRDMT1	17241177|17241177	0.995000|0.995000	0.38212|0.38212	0.939000|0.939000	0.37840|0.37840	0.214000|0.214000	0.24535|0.24535	2.414000|2.414000	0.44627|0.44627	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.303	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		A	17201171	G	A	17201171	3	1	334	1	0	0	0	0	1	0	0	0	16467	1203	42	2	678	2	TRDMT1	10	17201171	Missense_Mutation	SNP	G	TCGA-29-1705-01A-01W-0633-09		17201171	118333576	25	17914											
FGF8	2253	genome.wustl.edu	37	10	103530240	103530240	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr10:103530240G>A	ENST00000344255.3	-	6	547	c.548C>T	c.(547-549)aCg>aTg	p.T183M	FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000347978.2_Missense_Mutation_p.T165M|FGF8_ENST00000346714.3_Missense_Mutation_p.T154M|FGF8_ENST00000320185.2_Missense_Mutation_p.T194M			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	183					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GTGCTGCCGCGTCTTGGAGCC	0.642																																																0			10											44	42	43					10																	103530240		2203	4300	6503	103520230	SO:0001583	missense	2253			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"Endogenous ligands"	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.548C>T	10.37:g.103530240G>A	ENSP00000340039:p.Thr183Met		103520230	A1A514|Q14915|Q15766	Missense_Mutation	SNP	ENST00000344255.3	37	CCDS7517.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138864	0.77775	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.93241	3.395	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.962;0.962;0.979;0.999	D	0.97712	1.0191	10	0.87932	D	0	.	15.6748	0.77307	0.0:0.0:1.0:0.0	.	154;165;194;183	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	M	183;194;154;165	ENSP00000340039:T183M;ENSP00000321797:T194M;ENSP00000344306:T154M;ENSP00000321945:T165M	ENSP00000321797:T194M	T	-	2	0	FGF8	103520230	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.415000	0.97375	1.679000	0.50963	0.455000	0.32223	ACG		0.642	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	NM_006119, NM_033165		A	103530240	G	A	103530240	3	1	334	1	0	0	0	0	1	0	0	0	5858	1145	40	1	157	1	FGF8	10	103530240	Missense_Mutation	SNP	G	TCGA-29-1705-01A-01W-0633-09	86329069	103530240	32004507	26	17915											
ADAM12	8038	genome.wustl.edu	37	10	127724748	127724748	+	Silent	SNP	G	G	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr10:127724748G>T	ENST00000368679.4	-	21	2814	c.2505C>A	c.(2503-2505)ccC>ccA	p.P835P		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	835					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCTGGCAGGGGTCTGGCAG	0.557																																																0			10											42	46	45					10																	127724748		2203	4300	6503	127714738	SO:0001819	synonymous_variant	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2505C>A	10.37:g.127724748G>T			127714738	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	CCDS7653.1																																																																																				0.557	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			T	127724748	G	T	127724748	2	4	334	1	0	0	0	0	0	0	0	1	236	1219	43	3		3	ADAM12	10	127724748	Silent	SNP	G	TCGA-29-1705-01A-01W-0633-09	24194508	127724748	7809999	27	17916											
TRIM22	10346	genome.wustl.edu	37	11	5717689	5717725	+	Frame_Shift_Del	DEL	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	-	rs576448178|rs200668710		TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr11:5717689_5717725delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	ENST00000379965.3	+	2	504_540	c.227_263delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	c.(226-264)aacatagttgagagagtcaaagaggtcaagatgagcccafs	p.NIVERVKEVKMSP76fs	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	76					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CATCTGGCCAACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCCACAGGAGGGG	0.494																																					GBM(104;491 2336 5222)											0			11																																								5674301	SO:0001589	frameshift_variant	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.227_263delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	11.37:g.5717689_5717725delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	ENSP00000369299:p.Asn76fs		5674265	Q05CQ0|Q15521	Frame_Shift_Del	DEL	ENST00000379965.3	37	CCDS41612.1																																																																																				0.494	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		-	5717725	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	-	5717689	7	5	334	1	0	1	0	1	0	0	0	0	16496	43	2	0	229	0	TRIM22	11	5717689	Frame_Shift_Del	DEL	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	TCGA-29-1705-01A-01W-0633-09		5717689	129288827	28	17917											
DENND5A	23258	genome.wustl.edu	37	11	9199765	9199765	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr11:9199765C>T	ENST00000328194.3	-	8	2140	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q	DENND5A_ENST00000526523.1_5'UTR|DENND5A_ENST00000530044.1_Missense_Mutation_p.R607Q	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	607					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTGTCAACTCGGGAATCAAA	0.448																																																0			11											216	204	208					11																	9199765		2201	4296	6497	9156341	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1820G>A	11.37:g.9199765C>T	ENSP00000328524:p.Arg607Gln		9156341	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306428	0.95629	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.05447	3.44;3.44	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.01001	-1.1485	10	0.66056	D	0.02	.	19.3465	0.94365	0.0:1.0:0.0:0.0	.	607;607	E9PS91;Q6IQ26	.;DEN5A_HUMAN	Q	607	ENSP00000328524:R607Q;ENSP00000435866:R607Q	ENSP00000328524:R607Q	R	-	2	0	DENND5A	9156341	1.000000	0.71417	0.991000	0.47740	0.738000	0.42128	7.805000	0.86005	2.647000	0.89833	0.561000	0.74099	CGA		0.448	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		T	9199765	C	T	9199765	3	4	334	1	0	0	0	0	1	0	0	0	4436	884	31	1	2107	1	DENND5A	11	9199765	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09	3482076	9199765	125806751	29	17918											
HTATIP2	10553	genome.wustl.edu	37	11	20385802	20385802	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr11:20385802C>A	ENST00000451739.2	+	1	460	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	HTATIP2_ENST00000443524.2_Missense_Mutation_p.L7M|HTATIP2_ENST00000421577.2_Missense_Mutation_p.L7M|HTATIP2_ENST00000532505.1_Missense_Mutation_p.L7M|HTATIP2_ENST00000531058.1_Missense_Mutation_p.L7M|HTATIP2_ENST00000532081.1_Missense_Mutation_p.L7M|HTATIP2_ENST00000419348.2_Missense_Mutation_p.L41M|HTATIP2_ENST00000530266.1_Missense_Mutation_p.L7M	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AACAGAAGCCCTGTCGAAGCT	0.522																																																0			11											92	97	95					11																	20385802		2203	4300	6503	20342378	SO:0001583	missense	10553			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.19C>A	11.37:g.20385802C>A	ENSP00000394259:p.Leu7Met		20342378		Missense_Mutation	SNP	ENST00000451739.2	37	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641950	0.47153	.	.	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T	0.57107	0.71;0.71;0.42;0.71;0.7	6.02	4.05	0.47172	.	0.259478	0.42548	D	0.000684	T	0.34077	0.0885	N	0.22421	0.69	0.39078	D	0.960849	B;P;B	0.34462	0.032;0.454;0.024	B;B;B	0.30572	0.003;0.117;0.01	T	0.28202	-1.0051	10	0.39692	T	0.17	-17.6249	8.8082	0.34952	0.1502:0.7712:0.0:0.0787	.	7;7;41	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	M	7;7;7;41;7;7;7;7	ENSP00000397752:L7M;ENSP00000387876:L7M;ENSP00000392985:L41M;ENSP00000394259:L7M;ENSP00000436729:L7M	ENSP00000392985:L41M	L	+	1	2	HTATIP2	20342378	0.728000	0.28080	0.355000	0.25773	0.465000	0.32709	1.259000	0.32956	1.551000	0.49450	0.655000	0.94253	CTG		0.522	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		A	20385802	C	A	20385802	3	1	334	1	0	0	0	0	1	0	0	0	7432	680	24	3	127	3	HTATIP2	11	20385802	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09	11186037	20385802	114620714	30	17919											
AHNAK	79026	genome.wustl.edu	37	11	62301283	62301283	+	Silent	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr11:62301283C>G	ENST00000378024.4	-	5	880	c.606G>C	c.(604-606)ggG>ggC	p.G202G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	202					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACGGTCTTCCCAGACTGGG	0.547																																																0			11											106	105	105					11																	62301283		2202	4299	6501	62057859	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.606G>C	11.37:g.62301283C>G			62057859	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.547	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62301283	C	G	62301283	2	3	334	1	0	0	0	0	0	0	0	1	414	842	30	3		3	AHNAK	11	62301283	Silent	SNP	C	TCGA-29-1705-01A-01W-0633-09	41915481	62301283	72705233	31	17920											
CRADD	8738	genome.wustl.edu	37	12	94072640	94072640	+	Silent	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr12:94072640C>G	ENST00000542893.2	+	2	408	c.90C>G	c.(88-90)ctC>ctG	p.L30L	CRADD_ENST00000332896.3_Silent_p.L30L|CRADD_ENST00000541813.1_Silent_p.L30L|CRADD_ENST00000552033.1_Silent_p.L30L|CRADD_ENST00000548483.1_Silent_p.L30L|CRADD_ENST00000552983.1_Silent_p.L30L			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	30	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TTCAGTACCTCTACCAGGAAG	0.502																																																0			12											75	70	71					12																	94072640		2203	4300	6503	92596771	SO:0001819	synonymous_variant	8738			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"RIP-associated ICH1/CED3-homologous protein with death domain"	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.90C>G	12.37:g.94072640C>G			92596771	B7Z2Q5	Silent	SNP	ENST00000542893.2	37	CCDS9048.1																																																																																				0.502	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		G	94072640	C	G	94072640	2	3	334	1	0	0	0	0	0	0	0	1	3845	900	32	3		3	CRADD	12	94072640	Silent	SNP	C	TCGA-29-1705-01A-01W-0633-09		94072640	39779255	32	17921											
RCOR1	23186	genome.wustl.edu	37	14	103188669	103188669	+	Silent	SNP	T	T	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr14:103188669T>G	ENST00000570597.1	+	11	1326	c.1326T>G	c.(1324-1326)ggT>ggG	p.G442G	RCOR1_ENST00000262241.6_Silent_p.G445G			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	442					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CAGAACATGGTAAAGAAGAGA	0.413																																																0			14											126	136	133					14																	103188669		2203	4300	6503	102258422	SO:0001819	synonymous_variant	23186			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.1326T>G	14.37:g.103188669T>G			102258422	Q15044|Q6P2I9|Q86VG5	Silent	SNP	ENST00000570597.1	37																																																																																					0.413	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		G	103188669	T	G	103188669	2	3	334	1	0	0	0	0	0	0	0	1	13185	1625	57	5		5	RCOR1	14	103188669	Silent	SNP	T	TCGA-29-1705-01A-01W-0633-09		103188669	4160871	33	17922											
GLDN	342035	genome.wustl.edu	37	15	51676064	51676064	+	Silent	SNP	A	A	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr15:51676064A>G	ENST00000335449.6	+	4	572	c.516A>G	c.(514-516)ggA>ggG	p.G172G	GLDN_ENST00000396399.2_Silent_p.G48G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	172	Collagen-like 1.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GAGAAAAAGGAGCAAATGGAA	0.458																																																0			15											45	45	45					15																	51676064		2196	4293	6489	49463356	SO:0001819	synonymous_variant	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.516A>G	15.37:g.51676064A>G			49463356	Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	CCDS10140.2																																																																																				0.458	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		G	51676064	A	G	51676064	2	3	334	1	0	0	0	0	0	0	0	1	6434	291	11	4		4	GLDN	15	51676064	Silent	SNP	A	TCGA-29-1705-01A-01W-0633-09		51676064	50855328	34	17923											
CYP1A1	1543	genome.wustl.edu	37	15	75015380	75015380	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr15:75015380C>A	ENST00000379727.3	-	2	257	c.59G>T	c.(58-60)tGt>tTt	p.C20F	CYP1A1_ENST00000567032.1_Missense_Mutation_p.C20F|CYP1A1_ENST00000395048.2_Missense_Mutation_p.C20F|CYP1A1_ENST00000395049.4_Missense_Mutation_p.C20F|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	20					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GAATACCAGACAGAAGATGAC	0.552									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																							0			15											38	38	38					15																	75015380		2197	4296	6493	72802433	SO:0001583	missense	1543	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.59G>T	15.37:g.75015380C>A	ENSP00000369050:p.Cys20Phe		72802433	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	8.136	0.784121	0.16189	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.71341	-0.56;-0.56;-0.42	5.52	4.55	0.56014	.	0.138081	0.64402	D	0.000002	T	0.59742	0.2216	L	0.32530	0.975	0.50632	D	0.999886	B;B	0.24043	0.096;0.096	B;B	0.27170	0.077;0.077	T	0.61192	-0.7112	10	0.66056	D	0.02	.	10.3429	0.43889	0.2456:0.6291:0.1253:0.0	.	20;20	E7EMT5;P04798	.;CP1A1_HUMAN	F	20	ENSP00000369050:C20F;ENSP00000378488:C20F;ENSP00000378489:C20F	ENSP00000268062:C20F	C	-	2	0	CYP1A1	72802433	1.000000	0.71417	0.996000	0.52242	0.080000	0.17528	2.634000	0.46528	2.598000	0.87819	0.655000	0.94253	TGT		0.552	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		A	75015380	C	A	75015380	3	1	334	1	0	0	0	0	1	0	0	0	4149	478	17	3	1503	3	CYP1A1	15	75015380	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09	23339316	75015380	27516012	35	17924											
CREBBP	1387	genome.wustl.edu	37	16	3843433	3843433	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr16:3843433G>C	ENST00000262367.5	-	4	1979	c.1170C>G	c.(1168-1170)aaC>aaG	p.N390K	CREBBP_ENST00000382070.3_Missense_Mutation_p.N390K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	390	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GATTCAAAACGTTTTTCATGG	0.493			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16											150	135	140					16																	3843433		2197	4300	6497	3783434	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1170C>G	16.37:g.3843433G>C	ENSP00000262367:p.Asn390Lys		3783434	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349130	0.61183	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.81330	-1.48;-1.48	5.91	-8.11	0.01082	Zinc finger, TAZ-type (5);	0.138436	0.49305	D	0.000159	D	0.84428	0.5470	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.997	D	0.85022	0.0912	10	0.38643	T	0.18	-19.8187	22.2774	0.99969	0.2699:0.0:0.7301:0.0	.	458;390	Q4LE28;Q92793	.;CBP_HUMAN	K	390;458;390	ENSP00000262367:N390K;ENSP00000371502:N390K	ENSP00000262367:N390K	N	-	3	2	CREBBP	3783434	0.215000	0.23574	0.651000	0.29564	0.995000	0.86356	-0.212000	0.09319	-1.770000	0.01295	-0.136000	0.14681	AAC		0.493	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		C	3843433	G	C	3843433	3	2	334	1	0	0	0	0	1	0	0	0	3861	1136	40	3	6270	3	CREBBP	16	3843433	Missense_Mutation	SNP	G	TCGA-29-1705-01A-01W-0633-09		3843433	86511320	36	17925											
SALL1	6299	genome.wustl.edu	37	16	51173449	51173449	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr16:51173449C>A	ENST00000251020.4	-	2	2717	c.2684G>T	c.(2683-2685)gGg>gTg	p.G895V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.G798V|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	895					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGGACATCCCCCTCGATGGA	0.537																																					GBM(103;1352 1446 1855 4775 8890)											0			16											96	76	83					16																	51173449		2198	4300	6498	49730950	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2684G>T	16.37:g.51173449C>A	ENSP00000251020:p.Gly895Val		49730950	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513153	0.27123	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.78481	-1.18;-1.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84869	0.0824	10	0.36615	T	0.2	.	19.3939	0.94598	0.0:1.0:0.0:0.0	.	895	Q9NSC2	SALL1_HUMAN	V	895;798;859	ENSP00000251020:G895V;ENSP00000407914:G798V	ENSP00000251020:G895V	G	-	2	0	SALL1	49730950	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.787000	0.62432	2.579000	0.87056	0.557000	0.71058	GGG		0.537	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		A	51173449	C	A	51173449	3	1	334	1	0	0	0	0	1	0	0	0	13813	623	22	3	1298	3	SALL1	16	51173449	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09	47330016	51173449	39181304	37	17926											
TP53	7157	genome.wustl.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654|rs587780066	byFrequency	TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L	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	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	GAAGCCCAGACGGAAACCGTA	0.612		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"	71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	17	GRCh37	CM984590	TP53	M	rs11540654						63	60	61					17																	7579358		2203	4300	6503	7520083	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.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu		7520083	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7579358	C	A	7579358	3	1	334	1	0	0	0	0	1	0	0	0	16381	536	19	3	973	3	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09		7579358	73615852	38	17927											
LAMA3	3909	genome.wustl.edu	37	18	21418786	21418789	+	Frame_Shift_Del	DEL	GTAT	GTAT	-			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	GTAT	GTAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr18:21418786_21418789delGTAT	ENST00000313654.9	+	26	3376_3379	c.3135_3138delGTAT	c.(3133-3138)gagtatfs	p.EY1045fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.EY1045fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1045	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCTCAGCTGAGTATGTGAGACCAC	0.417																																																0			18																																								19672787	SO:0001589	frameshift_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3135_3138delGTAT	18.37:g.21418786_21418789delGTAT	ENSP00000324532:p.Glu1045fs		19672784	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	37	CCDS42419.1																																																																																				0.417	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		-	21418789	GTAT	-	21418786	7	5	334	1	0	1	0	1	0	0	0	0	8607	1020	36	0	3237	0	LAMA3	18	21418786	Frame_Shift_Del	DEL	GTAT	TCGA-29-1705-01A-01W-0633-09		21418786	56658462	39	17928											
LAMA3	3909	genome.wustl.edu	37	18	21529729	21529729	+	Splice_Site	SNP	A	A	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr18:21529729A>G	ENST00000313654.9	+	71	9593	c.9352A>G	c.(9352-9354)Agc>Ggc	p.S3118G	LAMA3_ENST00000587184.1_Splice_Site_p.S1453G|LAMA3_ENST00000269217.6_Splice_Site_p.S1509G|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Splice_Site_p.S3062G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3118	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTGGTTGCAGAGCCTCCCCAC	0.502																																																0			18											65	65	65					18																	21529729		2203	4300	6503	19783727	SO:0001630	splice_region_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9352-1A>G	18.37:g.21529729A>G			19783727	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	9.876	1.200272	0.22121	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79247	-1.25;-1.25;-1.25	5.55	-2.32	0.06745	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.56949	0.2020	L	0.35593	1.075	0.35340	D	0.786405	B;B;B;B	0.11235	0.0;0.0;0.002;0.004	B;B;B;B	0.13407	0.005;0.006;0.006;0.009	T	0.47649	-0.9101	8	.	.	.	.	0.447	0.00495	0.3694:0.2439:0.1516:0.2352	.	1453;1509;3062;3118	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	G	3118;3062;1509	ENSP00000324532:S3118G;ENSP00000382432:S3062G;ENSP00000269217:S1509G	.	S	+	1	0	LAMA3	19783727	0.139000	0.22563	0.919000	0.36401	0.220000	0.24768	0.667000	0.25112	0.043000	0.15746	0.533000	0.62120	AGC		0.502	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Missense_Mutation	G	21529729	A	G	21529729	5	3	334	1	0	0	0	0	0	0	1	0	8607	318	11	4	9809	4	LAMA3	18	21529729	Splice_Site	SNP	A	TCGA-29-1705-01A-01W-0633-09	110943	21529729	56547519	40	17929											
SERPINB4	6318	genome.wustl.edu	37	18	61310704	61310704	+	Silent	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr18:61310704T>C	ENST00000341074.5	-	2	223	c.108A>G	c.(106-108)tcA>tcG	p.S36S	SERPINB4_ENST00000356424.6_Silent_p.S36S	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	36					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCCCTAATGCTGATGTGATGC	0.423																																																0			18											226	197	207					18																	61310704		2203	4298	6501	59461684	SO:0001819	synonymous_variant	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.108A>G	18.37:g.61310704T>C			59461684	A8K847	Silent	SNP	ENST00000341074.5	37	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	T	4.286	0.052173	0.08291	.	.	ENSG00000206073	ENST00000413673	.	.	.	3.83	-4.01	0.04045	.	.	.	.	.	T	0.31575	0.0801	.	.	.	0.32338	N	0.560108	.	.	.	.	.	.	T	0.41106	-0.9527	4	.	.	.	.	3.762	0.08607	0.3862:0.2481:0.0:0.3657	.	.	.	.	R	38	.	.	Q	-	2	0	SERPINB4	59461684	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.709000	0.01890	-0.858000	0.04110	-0.676000	0.03789	CAG		0.423	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		C	61310704	T	C	61310704	2	2	334	1	0	0	0	0	0	0	0	1	14106	1567	55	4		4	SERPINB4	18	61310704	Silent	SNP	T	TCGA-29-1705-01A-01W-0633-09	39780975	61310704	16766544	41	17930											
PTPRS	5802	genome.wustl.edu	37	19	5286106	5286106	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr19:5286106T>C	ENST00000587303.1	-	1	145	c.46A>G	c.(46-48)Atg>Gtg	p.M16V	PTPRS_ENST00000353284.2_Missense_Mutation_p.M16V|PTPRS_ENST00000590509.1_Missense_Mutation_p.M16V|PTPRS_ENST00000588012.1_Missense_Mutation_p.M16V|PTPRS_ENST00000372412.4_Missense_Mutation_p.M16V|PTPRS_ENST00000357368.4_Missense_Mutation_p.M16V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.M16V|PTPRS_ENST00000592099.1_Missense_Mutation_p.M16V|PTPRS_ENST00000348075.2_Missense_Mutation_p.M16V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	16					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AGGAGGCCCATGGGACCAACC	0.652																																																0			19											52	47	48					19																	5286106		2203	4299	6502	5237106	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.46A>G	19.37:g.5286106T>C	ENSP00000467537:p.Met16Val		5237106	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	2.522	-0.310480	0.05458	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.52754	0.81;0.81;0.77;0.65;0.73	4.01	-7.15	0.01521	.	0.752267	0.10735	N	0.640094	T	0.15046	0.0363	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.13335	-1.0513	10	0.28530	T	0.3	.	1.8911	0.03248	0.1305:0.1873:0.3878:0.2944	.	16;16;16;16;16;16;42	F8W800;Q8NHS7;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;.;PTPRS_HUMAN;.	V	42;16;16;16;16;16;16;16;16;16	ENSP00000361489:M16V;ENSP00000349932:M16V;ENSP00000262963:M16V;ENSP00000269907:M16V;ENSP00000327313:M16V	ENSP00000262963:M16V	M	-	1	0	PTPRS	5237106	0.001000	0.12720	0.204000	0.23530	0.362000	0.29581	-3.305000	0.00519	-0.629000	0.05575	0.260000	0.18958	ATG		0.652	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			C	5286106	T	C	5286106	3	2	334	1	0	0	0	0	1	0	0	0	12814	1464	51	4	5948	4	PTPRS	19	5286106	Missense_Mutation	SNP	T	TCGA-29-1705-01A-01W-0633-09		5286106	53842877	42	17931											
ZNF283	284349	genome.wustl.edu	37	19	44352484	44352484	+	Silent	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr19:44352484G>A	ENST00000324461.7	+	7	2028	c.1731G>A	c.(1729-1731)ggG>ggA	p.G577G	ZNF283_ENST00000588797.1_Silent_p.G438G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	577					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)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AGGAATGTGGGAAGGCCTTCA	0.418																																																0			19											77	85	83					19																	44352484		2184	4292	6476	49044324	SO:0001819	synonymous_variant	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1731G>A	19.37:g.44352484G>A			49044324	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Silent	SNP	ENST00000324461.7	37	CCDS46097.1																																																																																				0.418	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		A	44352484	G	A	44352484	2	1	334	1	0	0	0	0	0	0	0	1	17820	1161	41	2		2	ZNF283	19	44352484	Silent	SNP	G	TCGA-29-1705-01A-01W-0633-09	39066378	44352484	14776499	43	17932											
SULT2B1	6820	genome.wustl.edu	37	19	49079174	49079174	+	Intron	SNP	G	G	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr19:49079174G>T	ENST00000201586.2	+	2	249				SULT2B1_ENST00000323090.4_Start_Codon_SNP_p.M1I	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		tctcCCTCATGGCGTCTCCCC	0.602																																																0			19											108	86	93					19																	49079174		2203	4300	6503	53770986	SO:0001627	intron_variant	6820			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.72-24G>T	19.37:g.49079174G>T			53770986	O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790571	0.31685	.	.	ENSG00000088002	ENST00000323090	T	0.01313	5.02	3.66	-4.81	0.03180	.	.	.	.	.	T	0.01189	0.0039	.	.	.	0.80722	D	1	B	0.25169	0.119	B	0.19391	0.025	T	0.48547	-0.9026	8	0.87932	D	0	.	5.328	0.15917	0.2981:0.4815:0.2203:0.0	.	1	O00204-2	.	I	1	ENSP00000312880:M1I	ENSP00000312880:M1I	M	+	3	0	SULT2B1	53770986	0.000000	0.05858	0.001000	0.08648	0.160000	0.22226	-0.670000	0.05256	-0.535000	0.06307	0.491000	0.48974	ATG		0.602	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		T	49079174	G	T	49079174	1	4	334	0	1	0	0	0	0	0	0	0	15382	1348	47	3		3	SULT2B1	19	49079174	Intron	SNP	G	TCGA-29-1705-01A-01W-0633-09	4726690	49079174	10049809	44	17933											
C20orf117	140710	genome.wustl.edu	37	20	35434278	35434278	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr20:35434278C>G	ENST00000357779.3	-	9	2509	c.2183G>C	c.(2182-2184)gGg>gCg	p.G728A	SOGA1_ENST00000456801.2_Missense_Mutation_p.G569A|SOGA1_ENST00000279034.6_Missense_Mutation_p.G728A|SOGA1_ENST00000237536.4_Missense_Mutation_p.G966A			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	728					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCAGCTGTCCCCCGTGCAGGC	0.483																																																0			20											94	96	95					20																	35434278		1963	4144	6107	34867692	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2183G>C	20.37:g.35434278C>G	ENSP00000350424:p.Gly728Ala		34867692	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	C	15.39	2.820660	0.50633	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18338	2.22;2.22;2.24;2.23	5.27	5.27	0.74061	.	0.183555	0.49305	D	0.000148	T	0.12347	0.0300	L	0.36672	1.1	0.38233	D	0.941091	P	0.39352	0.669	B	0.30943	0.122	T	0.12319	-1.0552	10	0.09084	T	0.74	-63.5812	17.8314	0.88684	0.0:1.0:0.0:0.0	.	728	O94964-4	.	A	966;728;569;728	ENSP00000237536:G966A;ENSP00000279034:G728A;ENSP00000413886:G569A;ENSP00000350424:G728A	ENSP00000237536:G966A	G	-	2	0	KIAA0889	34867692	0.996000	0.38824	0.998000	0.56505	0.981000	0.71138	2.884000	0.48562	2.746000	0.94184	0.563000	0.77884	GGG		0.483	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		G	35434278	C	G	35434278	3	3	334	1	0	0	0	0	1	0	0	0	2083	623	22	3	2178	3	C20orf117	20	35434278	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09		35434278	27591242	45	17934											
TIAM1	7074	genome.wustl.edu	37	21	32617941	32617941	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr21:32617941A>C	ENST00000286827.3	-	7	1918	c.1447T>G	c.(1447-1449)Tct>Gct	p.S483A	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S483A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	483	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTATCCCAGACCTGCCGTCG	0.527																																																0			21											76	67	70					21																	32617941		2203	4300	6503	31539812	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1447T>G	21.37:g.32617941A>C	ENSP00000286827:p.Ser483Ala		31539812	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.929855	0.73327	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.28895	1.59;1.59	5.22	4.08	0.47627	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	N	0.08118	0	0.45914	D	0.998753	P;P;P;P	0.44309	0.799;0.771;0.832;0.832	D;P;D;D	0.66979	0.913;0.837;0.948;0.948	T	0.30031	-0.9992	10	0.54805	T	0.06	.	11.0343	0.47791	0.9273:0.0:0.0727:0.0	.	483;483;324;483	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	A	483;324;483	ENSP00000286827:S483A;ENSP00000441570:S483A	ENSP00000286827:S483A	S	-	1	0	TIAM1	31539812	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.109000	0.77062	1.011000	0.39340	0.528000	0.53228	TCT		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		C	32617941	A	C	32617941	3	2	334	1	0	0	0	0	1	0	0	0	15890	275	10	5	3420	5	TIAM1	21	32617941	Missense_Mutation	SNP	A	TCGA-29-1705-01A-01W-0633-09		32617941	15511954	46	17935											
ZNF295	49854	genome.wustl.edu	37	21	43411454	43411454	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr21:43411454C>T	ENST00000310826.5	-	3	2934	c.2751G>A	c.(2749-2751)atG>atA	p.M917I	ZBTB21_ENST00000398511.3_Missense_Mutation_p.M917I|ZBTB21_ENST00000398499.1_Missense_Mutation_p.M917I|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.M716I	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	917					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GCACCGTGAACATCTTCCCAC	0.537																																																0			21											76	73	74					21																	43411454		2203	4300	6503	42284523	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2751G>A	21.37:g.43411454C>T	ENSP00000308759:p.Met917Ile		42284523	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	9.391	1.075493	0.20227	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.87	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.301230	0.31834	N	0.006992	T	0.20780	0.0500	N	0.05383	-0.06	0.27015	N	0.964595	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15206	-1.0445	10	0.17832	T	0.49	-6.3036	4.7989	0.13287	0.2219:0.3473:0.3589:0.0719	.	716;917	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	I	716;917;917;917	ENSP00000381517:M716I;ENSP00000308759:M917I;ENSP00000381512:M917I;ENSP00000381523:M917I	ENSP00000308759:M917I	M	-	3	0	ZNF295	42284523	0.733000	0.28132	0.411000	0.26484	0.966000	0.64601	-0.130000	0.10498	0.036000	0.15547	0.655000	0.94253	ATG		0.537	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		T	43411454	C	T	43411454	3	4	334	1	0	0	0	0	1	0	0	0	17827	478	17	2	453	2	ZNF295	21	43411454	Missense_Mutation	SNP	C	TCGA-29-1705-01A-01W-0633-09	10793513	43411454	4718441	47	17936											
ADARB1	104	genome.wustl.edu	37	21	46596483	46596483	+	Silent	SNP	G	G	A	rs557891335		TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr21:46596483G>A	ENST00000360697.3	+	2	882	c.867G>A	c.(865-867)gcG>gcA	p.A289A	ADARB1_ENST00000539173.1_Silent_p.A289A|ADARB1_ENST00000389863.4_Silent_p.A289A|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Silent_p.A289A			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	289	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CCCGGGCTGCGCAGTCTGCCC	0.567													G|||	1	0.000199681	8e-04	0	5008	,	,		16569	0		0	False		,,,				2504	0															0			21											48	52	50					21																	46596483		2203	4300	6503	45420911	SO:0001819	synonymous_variant	104			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.867G>A	21.37:g.46596483G>A			45420911	A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	CCDS33589.1																																																																																				0.567	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		A	46596483	G	A	46596483	2	1	334	1	0	0	0	0	0	0	0	1	282	1074	38	1		1	ADARB1	21	46596483	Silent	SNP	G	TCGA-29-1705-01A-01W-0633-09	3185029	46596483	1533412	48	17937											
TUBGCP6	85378	genome.wustl.edu	37	22	50663006	50663006	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr22:50663006T>C	ENST00000248846.5	-	11	2103	c.1999A>G	c.(1999-2001)Att>Gtt	p.I667V	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.I667V|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	667					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGTTTTGCAATTTCCATACGT	0.542																																																0			22											84	87	86					22																	50663006		2203	4300	6503	49005133	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1999A>G	22.37:g.50663006T>C	ENSP00000248846:p.Ile667Val		49005133	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.574720	0.65878	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.13089	2.98;2.62	4.97	3.94	0.45596	.	0.655088	0.16051	N	0.231989	T	0.19725	0.0474	L	0.58101	1.795	0.32982	D	0.523803	P;P	0.48503	0.911;0.911	P;P	0.49853	0.618;0.624	T	0.10823	-1.0613	10	0.21540	T	0.41	.	10.0236	0.42057	0.0:0.0799:0.0:0.9201	.	667;667	B2RWN4;Q96RT7	.;GCP6_HUMAN	V	667	ENSP00000248846:I667V;ENSP00000397387:I667V	ENSP00000248846:I667V	I	-	1	0	TUBGCP6	49005133	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.684000	0.54671	1.866000	0.54105	0.459000	0.35465	ATT		0.542	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		C	50663006	T	C	50663006	3	2	334	1	0	0	0	0	1	0	0	0	16770	1493	52	4	3520	4	TUBGCP6	22	50663006	Missense_Mutation	SNP	T	TCGA-29-1705-01A-01W-0633-09		50663006	641560	49	17938											
PPP1R3F	89801	genome.wustl.edu	37	X	49143120	49143120	+	Silent	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chrX:49143120T>C	ENST00000055335.6	+	4	1984	c.1968T>C	c.(1966-1968)aaT>aaC	p.N656N	PPP1R3F_ENST00000376188.1_Silent_p.N310N|PPP1R3F_ENST00000438316.1_Silent_p.N327N|PPP1R3F_ENST00000466508.1_Silent_p.N310N|PPP1R3F_ENST00000495799.1_Silent_p.N310N	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	656					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TGCACATGAATAGGGTGATAG	0.577																																																0			X											51	39	43					X																	49143120		2203	4300	6503	49030064	SO:0001819	synonymous_variant	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1968T>C	X.37:g.49143120T>C			49030064	A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	CCDS35254.1																																																																																				0.577	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		C	49143120	T	C	49143120	2	2	334	1	0	0	0	0	0	0	0	1	12378	1403	49	4		4	PPP1R3F	23	49143120	Silent	SNP	T	TCGA-29-1705-01A-01W-0633-09		49143120	106127440	50	17939											
CSMD2	114784	genome.wustl.edu	37	1	34401476	34401476	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr1:34401476G>T	ENST00000373381.4	-	4	773	c.597C>A	c.(595-597)gaC>gaA	p.D199E		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCGGACCTTGTCACCGAGGT	0.607																																																0			1											123	113	116					1																	34401476		2203	4300	6503	34174063	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.597C>A	1.37:g.34401476G>T	ENSP00000362479:p.Asp199Glu		34174063	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	16.09	3.025542	0.54683	.	.	ENSG00000121904	ENST00000373381	T	0.62941	-0.01	5.27	4.15	0.48705	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.54631	0.1870	L	0.56199	1.76	0.80722	D	1	B;B	0.23735	0.002;0.09	B;B	0.31191	0.029;0.125	T	0.46317	-0.9200	10	0.14656	T	0.56	.	10.3969	0.44207	0.1687:0.0:0.8313:0.0	.	159;199	Q7Z408;E7EUA6	CSMD2_HUMAN;.	E	199	ENSP00000362479:D199E	ENSP00000241312:D159E	D	-	3	2	CSMD2	34174063	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.467000	0.53078	2.439000	0.82584	0.563000	0.77884	GAC		0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		T	34401476	G	T	34401476	3	4	335	1	0	0	0	0	1	0	0	0	3945	1368	48	3	10250	3	CSMD2	1	34401476	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09		34401476	214849145	1	17940											
CLCA4	22802	genome.wustl.edu	37	1	87025928	87025928	+	Missense_Mutation	SNP	G	G	T	rs377046751		TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr1:87025928G>T	ENST00000370563.3	+	3	377	c.335G>T	c.(334-336)gGt>gTt	p.G112V	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	112	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.P111_E115delPGRDE(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACACTCCCAGGTAGAGATGAA	0.368																																																1	Deletion - In frame(1)	breast(1)	1											137	120	126					1																	87025928		1875	4131	6006	86798516	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.335G>T	1.37:g.87025928G>T	ENSP00000359594:p.Gly112Val		86798516	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861202	0.32884	.	.	ENSG00000016602	ENST00000370563	T	0.11495	2.77	5.75	3.89	0.44902	Chloride channel calcium-activated (1);	0.449602	0.24233	N	0.040335	T	0.13457	0.0326	M	0.83012	2.62	0.31917	N	0.613985	P	0.49447	0.924	P	0.60473	0.875	T	0.09729	-1.0661	10	0.19147	T	0.46	-10.5877	5.7203	0.17982	0.3577:0.0:0.6423:0.0	.	112	Q14CN2	CLCA4_HUMAN	V	112	ENSP00000359594:G112V	ENSP00000359594:G112V	G	+	2	0	CLCA4	86798516	0.963000	0.33076	0.342000	0.25602	0.924000	0.55760	3.071000	0.50041	1.430000	0.47334	0.655000	0.94253	GGT		0.368	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		T	87025928	G	T	87025928	3	4	335	1	0	0	0	0	1	0	0	0	3459	1261	44	3	345	3	CLCA4	1	87025928	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09	52624452	87025928	162224693	2	17941											
COL11A1	1301	genome.wustl.edu	37	1	103431048	103431048	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr1:103431048G>T	ENST00000370096.3	-	38	3223	c.2911C>A	c.(2911-2913)Cca>Aca	p.P971T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P855T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P932T|COL11A1_ENST00000358392.2_Missense_Mutation_p.P983T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	971	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATACCTGTGGTCCAACCACT	0.373																																																0			1											99	114	109					1																	103431048		2203	4300	6503	103203636	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2911C>A	1.37:g.103431048G>T	ENSP00000359114:p.Pro971Thr		103203636	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614289	0.66672	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.3	5.3	0.74995	.	0.060366	0.64402	D	0.000002	D	0.97445	0.9164	L	0.59967	1.855	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.987;0.994;0.998;0.994;0.994	D	0.98166	1.0449	10	0.72032	D	0.01	.	18.9633	0.92685	0.0:0.0:1.0:0.0	.	855;932;983;971;191	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	T	971;983;932;191;855	ENSP00000359114:P971T;ENSP00000351163:P983T;ENSP00000302551:P932T;ENSP00000426533:P855T	ENSP00000302551:P932T	P	-	1	0	COL11A1	103203636	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.734000	0.98822	2.485000	0.83878	0.557000	0.71058	CCA		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103431048	G	T	103431048	3	4	335	1	0	0	0	0	1	0	0	0	3667	1261	44	3	2629	3	COL11A1	1	103431048	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09	16405120	103431048	145819573	3	17942											
MARCO	8685	genome.wustl.edu	37	2	119699963	119699963	+	Silent	SNP	C	C	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr2:119699963C>T	ENST00000327097.4	+	1	222	c.87C>T	c.(85-87)ttC>ttT	p.F29F	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	29					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGGAGCCTTTCGAAATCAATG	0.388																																					GBM(8;18 374 7467 11269 32796)											0			2											86	85	85					2																	119699963		2203	4300	6503	119416433	SO:0001819	synonymous_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.87C>T	2.37:g.119699963C>T			119416433	B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	CCDS2124.1																																																																																				0.388	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		T	119699963	C	T	119699963	2	4	335	1	0	0	0	0	0	0	0	1	9311	883	31	1		1	MARCO	2	119699963	Silent	SNP	C	TCGA-29-1707-01A-01W-0633-09		119699963	123499410	4	17943											
BAZ2B	29994	genome.wustl.edu	37	2	160255377	160255377	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr2:160255377G>T	ENST00000392783.2	-	18	3422	c.2927C>A	c.(2926-2928)gCa>gAa	p.A976E	AC008277.1_ENST00000608714.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A942E|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A876E|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A940E|AC008277.1_ENST00000594921.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	976	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTGGCATTTGCCGCTTCTTC	0.353																																																0			2											122	116	118					2																	160255377		1827	4087	5914	159963623	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2927C>A	2.37:g.160255377G>T	ENSP00000376534:p.Ala976Glu		159963623	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512098	0.44660	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	6.07	6.07	0.98685	.	0.000000	0.36740	U	0.002430	T	0.06917	0.0176	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	T	0.59236	-0.7492	10	0.26408	T	0.33	-15.72	20.6593	0.99626	0.0:0.0:1.0:0.0	.	876;940;976	Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	E	940;976;942;876	ENSP00000376533:A940E;ENSP00000376534:A976E;ENSP00000348087:A942E;ENSP00000339670:A876E	ENSP00000339670:A876E	A	-	2	0	BAZ2B	159963623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.804000	0.99143	2.885000	0.99019	0.655000	0.94253	GCA		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			T	160255377	G	T	160255377	3	4	335	1	0	0	0	0	1	0	0	0	1332	1319	46	3	3659	3	BAZ2B	2	160255377	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09	40555414	160255377	82943996	5	17944											
COL7A1	1294	genome.wustl.edu	37	3	48629339	48629339	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr3:48629339C>T	ENST00000328333.8	-	10	1456	c.1349G>A	c.(1348-1350)cGt>cAt	p.R450H	COL7A1_ENST00000454817.1_Missense_Mutation_p.R450H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	450	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R450L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCAGTCTCACGCCGCCATTC	0.637																																																1	Substitution - Missense(1)	lung(1)	3											63	72	69					3																	48629339		2203	4300	6503	48604343	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1349G>A	3.37:g.48629339C>T	ENSP00000332371:p.Arg450His		48604343	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539551	0.27563	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.56941	0.43;0.43	4.76	3.85	0.44370	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.156131	0.29861	N	0.011007	T	0.61426	0.2346	L	0.51422	1.61	0.33661	D	0.609735	D	0.76494	0.999	D	0.67231	0.95	T	0.70876	-0.4753	10	0.66056	D	0.02	.	7.9498	0.30008	0.0:0.7512:0.1625:0.0863	.	450	Q02388	CO7A1_HUMAN	H	450	ENSP00000332371:R450H;ENSP00000412569:R450H	ENSP00000332371:R450H	R	-	2	0	COL7A1	48604343	0.995000	0.38212	1.000000	0.80357	0.911000	0.54048	1.247000	0.32815	1.072000	0.40860	0.462000	0.41574	CGT		0.637	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		T	48629339	C	T	48629339	3	4	335	1	0	0	0	0	1	0	0	0	3704	536	19	1	7921	1	COL7A1	3	48629339	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09		48629339	149393091	6	17945											
TMEM44	93109	genome.wustl.edu	37	3	194313777	194313777	+	Intron	SNP	G	G	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr3:194313777G>A	ENST00000392432.2	-	11	1523				TMEM44_ENST00000473092.1_Missense_Mutation_p.S400L|TMEM44_ENST00000347147.4_Intron|TMEM44_ENST00000273580.7_Missense_Mutation_p.S401L|TMEM44-AS1_ENST00000453671.1_RNA|TMEM44_ENST00000381975.3_Intron|TMEM44-AS1_ENST00000447982.1_RNA|TMEM44-AS1_ENST00000419571.1_RNA	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44							integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		TACCTGCTCCGAGTTTAGGGC	0.468																																																0			3											144	145	145					3																	194313777		2203	4300	6503	195795066	SO:0001627	intron_variant	93109			AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.1318-4409C>T	3.37:g.194313777G>A			195795066	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	ENST00000392432.2	37	CCDS54699.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148761	0.57151	.	.	ENSG00000145014	ENST00000273580;ENST00000432352;ENST00000473092	T;T	0.33216	1.42;1.42	4.42	1.58	0.23477	.	.	.	.	.	T	0.23249	0.0562	L	0.40543	1.245	0.22745	N	0.998782	B;B	0.22983	0.078;0.078	B;B	0.15052	0.012;0.012	T	0.20806	-1.0264	9	0.66056	D	0.02	.	7.1761	0.25744	0.3036:0.0:0.6964:0.0	.	400;401	E9PGA9;Q2T9K0-6	.;.	L	401;159;400	ENSP00000273580:S401L;ENSP00000418674:S400L	ENSP00000273580:S401L	S	-	2	0	TMEM44	195795066	1.000000	0.71417	0.962000	0.40283	0.953000	0.61014	0.838000	0.27572	0.186000	0.20125	0.591000	0.81541	TCG		0.468	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		A	194313777	G	A	194313777	1	1	335	0	1	0	0	0	0	0	0	0	16168	1059	37	1		1	TMEM44	3	194313777	Intron	SNP	G	TCGA-29-1707-01A-01W-0633-09	145684438	194313777	3708653	7	17946											
WDFY3	23001	genome.wustl.edu	37	4	85598394	85598394	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr4:85598394C>A	ENST00000295888.4	-	67	10822	c.10415G>T	c.(10414-10416)aGa>aTa	p.R3472I	WDFY3_ENST00000322366.6_Missense_Mutation_p.R3455I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3472	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATGGTGTCGTCTTTCTGTGAG	0.468																																																0			4											91	88	89					4																	85598394		2203	4300	6503	85817418	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10415G>T	4.37:g.85598394C>A	ENSP00000295888:p.Arg3472Ile		85817418	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729545	0.89390	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.81247	-1.47;-1.47	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94255	0.8155	H	0.98629	4.285	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.96202	0.9146	10	0.87932	D	0	.	19.4989	0.95085	0.0:1.0:0.0:0.0	.	3472	Q8IZQ1	WDFY3_HUMAN	I	3455;3472	ENSP00000318466:R3455I;ENSP00000295888:R3472I	ENSP00000295888:R3472I	R	-	2	0	WDFY3	85817418	0.959000	0.32827	0.152000	0.22495	0.729000	0.41735	7.438000	0.80431	2.678000	0.91216	0.655000	0.94253	AGA		0.468	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85598394	C	A	85598394	3	1	335	1	0	0	0	0	1	0	0	0	17270	913	32	3	173	3	WDFY3	4	85598394	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09		85598394	105555882	8	17947											
UNC5A	90249	genome.wustl.edu	37	5	176297378	176297378	+	Silent	SNP	C	C	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr5:176297378C>T	ENST00000329542.4	+	6	1003	c.729C>T	c.(727-729)ggC>ggT	p.G243G	UNC5A_ENST00000261961.3_Silent_p.G203G	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	243	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGTGGACGGCAGCTGGAGCC	0.682																																																0			5											33	33	33					5																	176297378		2202	4293	6495	176229984	SO:0001819	synonymous_variant	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.729C>T	5.37:g.176297378C>T			176229984	B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	8.841	0.942351	0.18281	.	.	ENSG00000113763	ENST00000509580	.	.	.	4.45	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-39.5248	3.2995	0.06978	0.2446:0.522:0.1293:0.1041	.	.	.	.	X	265	.	.	Q	+	1	0	UNC5A	176229984	0.954000	0.32549	1.000000	0.80357	0.724000	0.41520	0.171000	0.16685	0.822000	0.34565	0.289000	0.19496	CAG		0.682	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		T	176297378	C	T	176297378	2	4	335	1	0	0	0	0	0	0	0	1	16991	697	25	2		2	UNC5A	5	176297378	Silent	SNP	C	TCGA-29-1707-01A-01W-0633-09		176297378	4617882	9	17948											
MOXD1	26002	genome.wustl.edu	37	6	132645226	132645226	+	Silent	SNP	A	A	G			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr6:132645226A>G	ENST00000367963.3	-	7	1075	c.957T>C	c.(955-957)gaT>gaC	p.D319D	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.D251D	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	319						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTCCAGAATTATCTATTAAGC	0.353																																																0			6											88	90	89					6																	132645226		2203	4300	6503	132686919	SO:0001819	synonymous_variant	26002			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.957T>C	6.37:g.132645226A>G			132686919	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	CCDS5152.2																																																																																				0.353	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		G	132645226	A	G	132645226	2	3	335	1	0	0	0	0	0	0	0	1	9720	446	16	4		4	MOXD1	6	132645226	Silent	SNP	A	TCGA-29-1707-01A-01W-0633-09		132645226	38469841	10	17949											
SDK1	221935	genome.wustl.edu	37	7	3990602	3990602	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr7:3990602C>A	ENST00000404826.2	+	6	1034	c.895C>A	c.(895-897)Ccg>Acg	p.P299T	SDK1_ENST00000389531.3_Missense_Mutation_p.P299T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	299	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGTGGTTCCCCCGGGCAACAG	0.532																																																0			7											103	79	87					7																	3990602		2203	4300	6503	3957128	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.895C>A	7.37:g.3990602C>A	ENSP00000385899:p.Pro299Thr		3957128	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959055	0.74016	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.34667	1.35;1.35	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.66458	0.2791	M	0.86953	2.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.70824	-0.4767	10	0.54805	T	0.06	.	17.5848	0.87978	0.0:1.0:0.0:0.0	.	299	Q7Z5N4	SDK1_HUMAN	T	299	ENSP00000385899:P299T;ENSP00000374182:P299T	ENSP00000374182:P299T	P	+	1	0	SDK1	3957128	0.997000	0.39634	0.933000	0.37362	0.852000	0.48524	5.306000	0.65756	2.574000	0.86865	0.655000	0.94253	CCG		0.532	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	3990602	C	A	3990602	3	1	335	1	0	0	0	0	1	0	0	0	13971	623	22	3	917	3	SDK1	7	3990602	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09		3990602	155148061	11	17950											
TAS2R41	259287	genome.wustl.edu	37	7	143175874	143175874	+	Silent	SNP	C	C	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr7:143175874C>T	ENST00000408916.1	+	1	909	c.909C>T	c.(907-909)ggC>ggT	p.G303G	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	303					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGCAAGGGGCTTCTGGGTGG	0.522																																																0			7											80	72	74					7																	143175874		2025	4190	6215	142885996	SO:0001819	synonymous_variant	259287			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.909C>T	7.37:g.143175874C>T			142885996	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	CCDS43663.1																																																																																				0.522	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			T	143175874	C	T	143175874	2	4	335	1	0	0	0	0	0	0	0	1	15579	784	28	2		2	TAS2R41	7	143175874	Silent	SNP	C	TCGA-29-1707-01A-01W-0633-09	139185272	143175874	15962789	12	17951											
MLL3	58508	genome.wustl.edu	37	7	151904429	151904429	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr7:151904429C>A	ENST00000262189.6	-	24	4015	c.3797G>T	c.(3796-3798)gGa>gTa	p.G1266V	KMT2C_ENST00000355193.2_Missense_Mutation_p.G1266V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1266					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCATCTGTTCCTTCCACTCC	0.383																																																0			7											106	97	100					7																	151904429		2203	4300	6503	151535362	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3797G>T	7.37:g.151904429C>A	ENSP00000262189:p.Gly1266Val		151535362	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731343	0.30684	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83163	-1.69;-1.69	5.73	5.73	0.89815	.	0.000000	0.41500	U	0.000875	T	0.79446	0.4447	L	0.60455	1.87	0.80722	D	1	B;B	0.34103	0.071;0.437	B;B	0.28011	0.039;0.085	T	0.79584	-0.1743	10	0.52906	T	0.07	.	14.7207	0.69302	0.1448:0.8552:0.0:0.0	.	1266;327	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	V	1266	ENSP00000262189:G1266V;ENSP00000347325:G1266V	ENSP00000262189:G1266V	G	-	2	0	MLL3	151535362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.875000	0.39578	2.712000	0.92718	0.557000	0.71058	GGA		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151904429	C	A	151904429	3	1	335	1	0	0	0	0	1	0	0	0	9622	855	30	3	11082	3	MLL3	7	151904429	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09	8728555	151904429	7234234	13	17952											
RNF38	152006	genome.wustl.edu	37	9	36353241	36353241	+	Missense_Mutation	SNP	G	G	C	rs145433267		TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr9:36353241G>C	ENST00000259605.6	-	7	1104	c.997C>G	c.(997-999)Cca>Gca	p.P333A	RNF38_ENST00000377877.4_Missense_Mutation_p.P257A|RNF38_ENST00000377885.2_Missense_Mutation_p.P250A|RNF38_ENST00000353739.4_Missense_Mutation_p.P283A|RNF38_ENST00000350199.4_Missense_Mutation_p.P250A|RNF38_ENST00000357058.3_Missense_Mutation_p.P250A	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	333	Pro-rich.				male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GGTAATGTTGGGGGGTGGGCT	0.463																																																0			9						G	ALA/PRO,ALA/PRO,ALA/PRO,ALA/PRO,ALA/PRO	0,4406		0,0,2203	104	94	98		997,748,847,748,748	2.9	1	9	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	RNF38	NM_022781.4,NM_194328.2,NM_194329.2,NM_194330.2,NM_194332.2	27,27,27,27,27	0,3,6500	CC,CG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign,benign	333/516,250/433,283/466,250/433,250/433	36353241	3,13003	2203	4300	6503	36343241	SO:0001583	missense	152006				CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.997C>G	9.37:g.36353241G>C	ENSP00000259605:p.Pro333Ala		36343241	A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	CCDS6603.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.46	1.356464	0.24598	0.0	3.49E-4	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.84	2.93	0.34026	.	0.206471	0.51477	D	0.000085	T	0.47002	0.1422	N	0.14661	0.345	0.37810	D	0.928017	B;B;B	0.22909	0.077;0.0;0.002	B;B;B	0.19666	0.026;0.007;0.008	T	0.37079	-0.9721	10	0.36615	T	0.2	-1.7763	10.9736	0.47452	0.0:0.2625:0.6013:0.1361	.	257;283;333	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	A	333;283;250;250;250;150;257;257	ENSP00000259605:P333A;ENSP00000335239:P283A;ENSP00000367117:P250A;ENSP00000349566:P250A;ENSP00000343947:P250A;ENSP00000367109:P257A	ENSP00000259605:P333A	P	-	1	0	RNF38	36343241	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	5.057000	0.64294	0.348000	0.23949	-0.266000	0.10368	CCA		0.463	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		C	36353241	G	C	36353241	3	2	335	1	0	0	0	0	1	0	0	0	13493	1232	43	3	574	3	RNF38	9	36353241	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09		36353241	104860190	14	17953											
C9orf30	91283	genome.wustl.edu	37	9	103204231	103204231	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr9:103204231A>G	ENST00000395067.2	+	2	282	c.11A>G	c.(10-12)aAc>aGc	p.N4S	MSANTD3-TMEFF1_ENST00000502978.1_5'Flank|MSANTD3_ENST00000374885.1_Missense_Mutation_p.N4S|TMEFF1_ENST00000334943.6_5'Flank	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	4										endometrium(2)|lung(2)	4						ATGCAAAACAACGAAATTATA	0.368																																																0			9											60	56	57					9																	103204231		2203	4300	6503	102244052	SO:0001583	missense	91283			BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 30"	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.11A>G	9.37:g.103204231A>G	ENSP00000378506:p.Asn4Ser		102244052	B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598424	0.46318	.	.	ENSG00000066697	ENST00000395067;ENST00000398977;ENST00000374885;ENST00000374886	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	T	0.50326	0.1609	L	0.38175	1.15	0.42812	D	0.993963	B	0.02656	0.0	B	0.06405	0.002	T	0.47886	-0.9082	8	0.08599	T	0.76	-1.0904	15.397	0.74805	1.0:0.0:0.0:0.0	.	4	Q96H12	CI030_HUMAN	S	4	.	ENSP00000364020:N4S	N	+	2	0	C9orf30	102244052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.677000	0.61634	2.243000	0.73865	0.533000	0.62120	AAC		0.368	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		G	103204231	A	G	103204231	3	3	335	1	0	0	0	0	1	0	0	0	2478	43	2	4	13	4	C9orf30	9	103204231	Missense_Mutation	SNP	A	TCGA-29-1707-01A-01W-0633-09	66850990	103204231	38009200	15	17954											
OR1J2	26740	genome.wustl.edu	37	9	125273804	125273804	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr9:125273804G>A	ENST00000335302.5	+	1	724	c.724G>A	c.(724-726)Ggc>Agc	p.G242S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GTCCACATGTGGCTCCCATCT	0.483																																																0			9											219	179	193					9																	125273804		2203	4300	6503	124313625	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.724G>A	9.37:g.125273804G>A	ENSP00000335575:p.Gly242Ser		124313625	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580329	0.46006	.	.	ENSG00000197233	ENST00000335302	T	0.35973	1.28	4.77	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	U	0.001028	T	0.33030	0.0849	N	0.12746	0.255	0.24330	N	0.995003	D	0.54207	0.965	D	0.64144	0.922	T	0.05716	-1.0868	10	0.54805	T	0.06	.	4.62	0.12445	0.1816:0.0:0.6443:0.1741	.	242	Q8NGS2	OR1J2_HUMAN	S	242	ENSP00000335575:G242S	ENSP00000335575:G242S	G	+	1	0	OR1J2	124313625	0.000000	0.05858	0.880000	0.34516	0.155000	0.21991	-0.464000	0.06688	1.224000	0.43551	0.545000	0.68477	GGC		0.483	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			A	125273804	G	A	125273804	3	1	335	1	0	0	0	0	1	0	0	0	10960	1348	47	2	726	2	OR1J2	9	125273804	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09	22069573	125273804	15939627	16	17955											
GPR107	57720	genome.wustl.edu	37	9	132853178	132853178	+	Silent	SNP	T	T	C			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr9:132853178T>C	ENST00000372406.1	+	8	1152	c.645T>C	c.(643-645)gaT>gaC	p.D215D	GPR107_ENST00000347136.6_Silent_p.D215D|GPR107_ENST00000372410.3_Silent_p.D215D	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	215						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TCAGCACTGATGACCAAGAAG	0.323																																																0			9											89	85	86					9																	132853178		2203	4299	6502	131892999	SO:0001819	synonymous_variant	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.645T>C	9.37:g.132853178T>C			131892999	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	37	CCDS48041.1																																																																																				0.323	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			C	132853178	T	C	132853178	2	2	335	1	0	0	0	0	0	0	0	1	6623	1461	51	4		4	GPR107	9	132853178	Silent	SNP	T	TCGA-29-1707-01A-01W-0633-09	7579374	132853178	8360253	17	17956											
POMT1	10585	genome.wustl.edu	37	9	134385308	134385308	+	Silent	SNP	G	G	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr9:134385308G>T	ENST00000372228.3	+	8	803	c.624G>T	c.(622-624)gtG>gtT	p.V208V	POMT1_ENST00000354713.4_Silent_p.V178V|POMT1_ENST00000341012.7_Silent_p.V154V|POMT1_ENST00000423007.1_Silent_p.V208V|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000404875.2_Silent_p.V91V|POMT1_ENST00000402686.3_Silent_p.V208V|POMT1_ENST00000419118.2_Silent_p.V56V	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	208					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ACATGGGTGTGTTCACGTACG	0.512																																																0			9											261	218	232					9																	134385308		2203	4300	6503	133375129	SO:0001819	synonymous_variant	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.624G>T	9.37:g.134385308G>T			133375129	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	CCDS6943.1																																																																																				0.512	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		T	134385308	G	T	134385308	2	4	335	1	0	0	0	0	0	0	0	1	12245	1364	48	3		3	POMT1	9	134385308	Silent	SNP	G	TCGA-29-1707-01A-01W-0633-09	1532130	134385308	6828123	18	17957											
ADAMTSL2	9719	genome.wustl.edu	37	9	136405823	136405823	+	Silent	SNP	G	G	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr9:136405823G>A	ENST00000354484.4	+	6	1073	c.516G>A	c.(514-516)aaG>aaA	p.K172K	ADAMTSL2_ENST00000393060.1_Silent_p.K172K|ADAMTSL2_ENST00000393061.3_Silent_p.K281K	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	172					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CATCCTGCAAGCTCACTGACC	0.597																																																0			9											75	62	66					9																	136405823		2203	4300	6503	135395644	SO:0001819	synonymous_variant	9719			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.516G>A	9.37:g.136405823G>A			135395644	B1B0D5|O60345	Silent	SNP	ENST00000354484.4	37	CCDS6976.1																																																																																				0.597	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		A	136405823	G	A	136405823	2	1	335	1	0	0	0	0	0	0	0	1	275	962	34	2		2	ADAMTSL2	9	136405823	Silent	SNP	G	TCGA-29-1707-01A-01W-0633-09	2020515	136405823	4807608	19	17958											
OR5AS1	219447	genome.wustl.edu	37	11	55798420	55798420	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr11:55798420C>A	ENST00000313555.1	+	1	526	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TATCGTCAATCATTTTTTCTG	0.443																																																0			11											264	259	260					11																	55798420		2201	4296	6497	55554996	SO:0001583	missense	219447			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.526C>A	11.37:g.55798420C>A	ENSP00000324111:p.His176Asn		55554996	Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461436	0.26248	.	.	ENSG00000181785	ENST00000313555	T	0.00164	8.64	5.46	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.218239	0.23045	U	0.052580	T	0.00412	0.0013	M	0.83953	2.67	0.09310	N	1	D	0.57571	0.98	P	0.57846	0.828	T	0.36890	-0.9729	10	0.72032	D	0.01	.	12.8884	0.58057	0.2949:0.7051:0.0:0.0	.	176	Q8N127	O5AS1_HUMAN	N	176	ENSP00000324111:H176N	ENSP00000324111:H176N	H	+	1	0	OR5AS1	55554996	0.620000	0.27068	0.072000	0.20136	0.020000	0.10135	1.778000	0.38614	1.279000	0.44446	-0.195000	0.12781	CAT		0.443	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		A	55798420	C	A	55798420	3	1	335	1	0	0	0	0	1	0	0	0	11146	826	29	3	528	3	OR5AS1	11	55798420	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09		55798420	79208096	20	17959											
KIF21A	55605	genome.wustl.edu	37	12	39760843	39760843	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr12:39760843G>T	ENST00000361418.5	-	5	739	c.724C>A	c.(724-726)Caa>Aaa	p.Q242K	KIF21A_ENST00000395670.3_Missense_Mutation_p.Q242K|KIF21A_ENST00000544797.2_Missense_Mutation_p.Q242K|KIF21A_ENST00000541463.2_Missense_Mutation_p.Q242K|KIF21A_ENST00000361961.3_Missense_Mutation_p.Q242K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	242	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCATCTATTTGGGGACACACT	0.373																																																0			12											118	110	113					12																	39760843		2203	4300	6503	38047110	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.724C>A	12.37:g.39760843G>T	ENSP00000354878:p.Gln242Lys		38047110	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	1.813	-0.474076	0.04414	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.33	4.35	0.52113	Kinesin, motor domain (4);	0.481093	0.17943	N	0.156780	T	0.57460	0.2055	N	0.20881	0.62	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.001;0.002;0.001	T	0.32613	-0.9900	10	0.13470	T	0.59	.	11.2374	0.48949	0.0:0.1163:0.6853:0.1984	.	242;242;242;242;242	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	K	242;242;242;242;242;242;65	ENSP00000354851:Q242K;ENSP00000379029:Q242K;ENSP00000445606:Q242K;ENSP00000354878:Q242K;ENSP00000438075:Q242K;ENSP00000449700:Q65K	ENSP00000344501:Q242K	Q	-	1	0	KIF21A	38047110	0.057000	0.20700	0.773000	0.31616	0.952000	0.60782	2.376000	0.44292	2.498000	0.84270	0.655000	0.94253	CAA		0.373	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		T	39760843	G	T	39760843	3	4	335	1	0	0	0	0	1	0	0	0	8288	1357	47	3	4436	3	KIF21A	12	39760843	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09		39760843	94091052	21	17960											
AMIGO2	91523	genome.wustl.edu	37	12	47472383	47472383	+	5'Flank	SNP	C	C	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr12:47472383C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000321382.3_Missense_Mutation_p.A135T|AMIGO2_ENST00000429635.1_Missense_Mutation_p.A135T|AMIGO2_ENST00000266581.4_Missense_Mutation_p.A135T|AMIGO2_ENST00000550413.1_Missense_Mutation_p.A135T			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TGGAATACAGCATTTTTCACC	0.433																																																0			12											130	130	130					12																	47472383		2203	4300	6503	45758650	SO:0001631	upstream_gene_variant	347902			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472383C>T	Exception_encountered		45758650	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.272681	0.23221	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	4.83	3.85	0.44370	.	0.494238	0.22692	N	0.056813	T	0.34454	0.0898	N	0.12637	0.245	0.27649	N	0.947479	P	0.42584	0.784	B	0.43225	0.412	T	0.11203	-1.0597	10	0.16896	T	0.51	-12.4877	11.7845	0.52034	0.0:0.6606:0.3394:0.0	.	135	Q86SJ2	AMGO2_HUMAN	T	135	ENSP00000266581:A135T;ENSP00000449034:A135T;ENSP00000406020:A135T;ENSP00000320848:A135T	ENSP00000266581:A135T	A	-	1	0	AMIGO2	45758650	1.000000	0.71417	0.407000	0.26434	0.935000	0.57460	3.736000	0.55052	2.611000	0.88343	0.655000	0.94253	GCT		0.433	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		T	47472383	C	T	47472383	1	4	335	0	1	0	0	0	0	0	0	0	576	710	25	2		2	AMIGO2	12	47472383	5'Flank	SNP	C	TCGA-29-1707-01A-01W-0633-09	7711540	47472383	86379512	22	17961											
BIN2	51411	genome.wustl.edu	37	12	51692990	51692990	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr12:51692990T>C	ENST00000267012.4	-	7	660	c.599A>G	c.(598-600)aAt>aGt	p.N200S	BIN2_ENST00000452142.2_Missense_Mutation_p.N168S|BIN2_ENST00000604560.1_Missense_Mutation_p.N173S|BIN2_ENST00000544402.1_Missense_Mutation_p.N174S	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	200	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TCATTACCTATTATAAAGAAT	0.398																																																0			12											95	91	92					12																	51692990		2203	4300	6503	49979257	SO:0001583	missense	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.599A>G	12.37:g.51692990T>C	ENSP00000267012:p.Asn200Ser		49979257	Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.964470	0.34659	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.58210	0.35;0.35;0.35	4.46	4.46	0.54185	BAR (3);	0.210022	0.41294	D	0.000908	T	0.27205	0.0667	N	0.11201	0.11	0.28523	N	0.912965	B;B;B	0.25772	0.007;0.134;0.015	B;B;B	0.23275	0.006;0.045;0.011	T	0.15549	-1.0433	10	0.10111	T	0.7	.	8.2928	0.31967	0.0:0.091:0.0:0.909	.	174;168;200	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	S	168;200;174	ENSP00000410217:N168S;ENSP00000267012:N200S;ENSP00000445874:N174S	ENSP00000267012:N200S	N	-	2	0	BIN2	49979257	0.979000	0.34478	0.934000	0.37439	0.906000	0.53458	2.649000	0.46656	2.228000	0.72767	0.533000	0.62120	AAT		0.398	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			C	51692990	T	C	51692990	3	2	335	1	0	0	0	0	1	0	0	0	1433	1493	52	4	1126	4	BIN2	12	51692990	Missense_Mutation	SNP	T	TCGA-29-1707-01A-01W-0633-09	4220607	51692990	82158905	23	17962											
DNAH10	196385	genome.wustl.edu	37	12	124332518	124332518	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr12:124332518T>G	ENST00000409039.3	+	32	5496	c.5471T>G	c.(5470-5472)aTg>aGg	p.M1824R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1824	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCGCTGTCCATGTATCTAGGT	0.527																																																0			12											72	79	77					12																	124332518		1939	4153	6092	122898471	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5471T>G	12.37:g.124332518T>G	ENSP00000386770:p.Met1824Arg		122898471	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456227	0.84317	.	.	ENSG00000197653	ENST00000409039	T	0.09445	2.98	5.67	5.67	0.87782	.	0.055751	0.64402	U	0.000001	T	0.38532	0.1044	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.37174	-0.9717	10	0.87932	D	0	.	15.9076	0.79442	0.0:0.0:0.0:1.0	.	1824	Q8IVF4	DYH10_HUMAN	R	1824	ENSP00000386770:M1824R	ENSP00000386770:M1824R	M	+	2	0	DNAH10	122898471	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	8.027000	0.88791	2.163000	0.67991	0.454000	0.30748	ATG		0.527	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			G	124332518	T	G	124332518	3	3	335	1	0	0	0	0	1	0	0	0	4598	1464	51	5	5597	5	DNAH10	12	124332518	Missense_Mutation	SNP	T	TCGA-29-1707-01A-01W-0633-09	72639528	124332518	9519377	24	17963											
DUOXA1	90527	genome.wustl.edu	37	15	45411477	45411477	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr15:45411477C>T	ENST00000560572.1	-	6	864	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	DUOXA1_ENST00000267803.4_Missense_Mutation_p.V287M|DUOXA1_ENST00000559014.1_Missense_Mutation_p.V287M|DUOXA1_ENST00000558422.1_Missense_Mutation_p.V242M|DUOXA1_ENST00000558996.1_Missense_Mutation_p.V242M|DUOXA1_ENST00000430224.2_Missense_Mutation_p.V242M	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	287					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TCTTCATCCACACTCTGGTTG	0.612																																																0			15											51	47	48					15																	45411477		2198	4298	6496	43198769	SO:0001583	missense	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.859G>A	15.37:g.45411477C>T	ENSP00000454084:p.Val287Met		43198769	Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	37		.	.	.	.	.	.	.	.	.	.	C	13.06	2.123406	0.37436	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.55760	0.5;0.5	5.31	-1.26	0.09376	.	1.778230	0.02588	N	0.099651	T	0.56529	0.1991	L	0.35854	1.095	0.09310	N	1	D;P;P;D	0.64830	0.994;0.915;0.915;0.991	P;P;P;P	0.61201	0.885;0.663;0.663;0.814	T	0.43523	-0.9386	10	0.42905	T	0.14	0.0981	4.1511	0.10238	0.4067:0.3689:0.0:0.2244	.	242;242;287;287	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	M	287;242	ENSP00000267803:V287M;ENSP00000415512:V242M	ENSP00000267803:V287M	V	-	1	0	DUOXA1	43198769	0.000000	0.05858	0.001000	0.08648	0.326000	0.28443	0.118000	0.15605	-0.401000	0.07644	-0.136000	0.14681	GTG		0.612	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		T	45411477	C	T	45411477	3	4	335	1	0	0	0	0	1	0	0	0	4802	478	17	2	604	2	DUOXA1	15	45411477	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09		45411477	57119915	25	17964											
MAN2C1	4123	genome.wustl.edu	37	15	75654986	75654986	+	Silent	SNP	G	G	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr15:75654986G>A	ENST00000267978.5	-	7	940	c.894C>T	c.(892-894)tcC>tcT	p.S298S	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000565683.1_Silent_p.S298S|MAN2C1_ENST00000569482.1_Silent_p.S298S	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	298					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCTGACCTGGGAGCAGGCAA	0.637																																																0			15											53	55	54					15																	75654986		2197	4294	6491	73442039	SO:0001819	synonymous_variant	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.894C>T	15.37:g.75654986G>A			73442039	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	CCDS32298.1																																																																																				0.637	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			A	75654986	G	A	75654986	2	1	335	1	0	0	0	0	0	0	0	1	9218	1219	43	2		2	MAN2C1	15	75654986	Silent	SNP	G	TCGA-29-1707-01A-01W-0633-09	30243509	75654986	26876406	26	17965											
LASS3	204219	genome.wustl.edu	37	15	101016358	101016358	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr15:101016358T>A	ENST00000394113.1	-	10	1232	c.542A>T	c.(541-543)tAc>tTc	p.Y181F	CERS3_ENST00000538112.2_Missense_Mutation_p.Y181F|CERS3_ENST00000284382.4_Missense_Mutation_p.Y181F|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	181	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TAAAATGTAGTACCAGTACTG	0.353																																																0			15											66	73	71					15																	101016358		2203	4299	6502	98833881	SO:0001583	missense	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.542A>T	15.37:g.101016358T>A	ENSP00000377672:p.Tyr181Phe		98833881	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319082	0.81469	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.87412	-2.25;-2.25	5.46	4.32	0.51571	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91713	0.7380	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91624	0.5313	10	0.54805	T	0.06	-14.6626	10.7797	0.46371	0.0:0.0778:0.0:0.9222	.	181	Q8IU89	CERS3_HUMAN	F	181;192;181	ENSP00000284382:Y181F;ENSP00000437640:Y181F	ENSP00000284382:Y181F	Y	-	2	0	CERS3	98833881	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.942000	0.75928	2.079000	0.62486	0.482000	0.46254	TAC		0.353	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		A	101016358	T	A	101016358	3	1	335	1	0	0	0	0	1	0	0	0	8640	1638	57	5	629	5	LASS3	15	101016358	Missense_Mutation	SNP	T	TCGA-29-1707-01A-01W-0633-09	25361372	101016358	1515034	27	17966											
ACSM2A	123876	genome.wustl.edu	37	16	20494411	20494411	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr16:20494411A>T	ENST00000573854.1	+	13	1655	c.1541A>T	c.(1540-1542)cAg>cTg	p.Q514L	ACSM2A_ENST00000536134.1_Missense_Mutation_p.Q286L|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Q514L|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Q435L|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Q514L|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Q514L	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	514					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGGCCTCGCAGTTCCTGTCC	0.498																																																0			16											198	177	184					16																	20494411		2203	4300	6503	20401912	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1541A>T	16.37:g.20494411A>T	ENSP00000459451:p.Gln514Leu		20401912	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	A	9.369	1.070118	0.20147	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.26	2.0	0.26442	.	1.118710	0.06804	N	0.789235	T	0.36826	0.0981	L	0.37697	1.125	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.34004	-0.9846	10	0.66056	D	0.02	-1.0929	5.0371	0.14440	0.4337:0.4431:0.1233:0.0	.	514	Q08AH3	ACS2A_HUMAN	L	435;514;286;514	ENSP00000392169:Q435L;ENSP00000219054:Q514L;ENSP00000445082:Q286L;ENSP00000379411:Q514L	ENSP00000219054:Q514L	Q	+	2	0	ACSM2A	20401912	0.000000	0.05858	0.968000	0.41197	0.920000	0.55202	0.627000	0.24506	1.234000	0.43709	0.254000	0.18369	CAG		0.498	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		T	20494411	A	T	20494411	3	4	335	1	0	0	0	0	1	0	0	0	183	188	7	5	1587	5	ACSM2A	16	20494411	Missense_Mutation	SNP	A	TCGA-29-1707-01A-01W-0633-09		20494411	69860342	28	17967											
ZP2	7783	genome.wustl.edu	37	16	21218272	21218272	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr16:21218272T>A	ENST00000574002.1	-	6	852	c.370A>T	c.(370-372)Agt>Tgt	p.S124C	ZP2_ENST00000219593.4_Missense_Mutation_p.S124C|ZP2_ENST00000574091.1_Missense_Mutation_p.S124C|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	124					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGGCAGCACTGTTGTTCATG	0.478																																																0			16											234	190	205					16																	21218272		2199	4300	6499	21125773	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.370A>T	16.37:g.21218272T>A	ENSP00000460971:p.Ser124Cys		21125773	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661968	0.47572	.	.	ENSG00000103310	ENST00000219593	T	0.32272	1.46	4.21	1.86	0.25419	.	1.245830	0.05242	N	0.512327	T	0.44540	0.1298	L	0.48642	1.525	0.09310	N	1	D;D;D	0.76494	0.999;0.991;0.991	D;P;P	0.65443	0.935;0.784;0.706	T	0.15178	-1.0446	10	0.72032	D	0.01	-1.939	4.1822	0.10381	0.0:0.1101:0.208:0.682	.	124;124;124	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	C	124	ENSP00000219593:S124C	ENSP00000219593:S124C	S	-	1	0	ZP2	21125773	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.216000	0.17585	0.247000	0.21414	0.482000	0.46254	AGT		0.478	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			A	21218272	T	A	21218272	3	1	335	1	0	0	0	0	1	0	0	0	18216	1580	55	5	1927	5	ZP2	16	21218272	Missense_Mutation	SNP	T	TCGA-29-1707-01A-01W-0633-09	723861	21218272	69136481	29	17968											
GSG1L	146395	genome.wustl.edu	37	16	27974490	27974490	+	Silent	SNP	C	C	A	rs189933895	byFrequency	TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr16:27974490C>A	ENST00000447459.2	-	2	468	c.384G>T	c.(382-384)ccG>ccT	p.P128P	GSG1L_ENST00000380898.2_5'UTR|GSG1L_ENST00000395724.3_Silent_p.P128P	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	128					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P128P(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCTCCGATGCCGGGGCCAGGT	0.542																																																1	Substitution - coding silent(1)	endometrium(1)	16											74	81	79					16																	27974490		2001	4165	6166	27881991	SO:0001819	synonymous_variant	146395			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.384G>T	16.37:g.27974490C>A			27881991	Q7Z6F8|Q8TB81	Silent	SNP	ENST00000447459.2	37	CCDS45450.1																																																																																				0.542	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		A	27974490	C	A	27974490	2	1	335	1	0	0	0	0	0	0	0	1	6821	639	23	3		3	GSG1L	16	27974490	Silent	SNP	C	TCGA-29-1707-01A-01W-0633-09	6756218	27974490	62380263	30	17969											
CDH5	1003	genome.wustl.edu	37	16	66420760	66420760	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr16:66420760G>A	ENST00000341529.3	+	3	407	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CDH5_ENST00000563425.2_Missense_Mutation_p.E87K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GCTCAAAGGAGAATATGTGGG	0.537																																																0			16											78	66	70					16																	66420760		2202	4300	6502	64978261	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.259G>A	16.37:g.66420760G>A	ENSP00000344115:p.Glu87Lys		64978261	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696783	0.48202	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.61274	0.12	5.89	2.65	0.31530	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54663	0.1872	L	0.55213	1.73	0.80722	D	1	B	0.29955	0.263	B	0.36464	0.225	T	0.61083	-0.7134	9	0.72032	D	0.01	.	10.5159	0.44889	0.0704:0.2487:0.6809:0.0	.	87	P33151	CADH5_HUMAN	K	87	ENSP00000344115:E87K	ENSP00000344115:E87K	E	+	1	0	CDH5	64978261	1.000000	0.71417	0.726000	0.30738	0.053000	0.15095	3.533000	0.53561	1.497000	0.48584	-0.150000	0.13652	GAA		0.537	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		A	66420760	G	A	66420760	3	1	335	1	0	0	0	0	1	0	0	0	3113	943	33	2	265	2	CDH5	16	66420760	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09	38446270	66420760	23933993	31	17970											
C17orf74	201243	genome.wustl.edu	37	17	7329550	7329550	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr17:7329550C>G	ENST00000333870.3	+	3	314	c.240C>G	c.(238-240)gaC>gaG	p.D80E	C17orf74_ENST00000574034.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	80						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GTCCCCCAGACAAGGCTCAGG	0.547																																																0			17											94	94	94					17																	7329550		2008	4174	6182	7270274	SO:0001583	missense	201243			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.240C>G	17.37:g.7329550C>G	ENSP00000328061:p.Asp80Glu		7270274		Missense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	0.156	-1.086279	0.01873	.	.	ENSG00000184560	ENST00000333870	T	0.47177	0.85	2.86	1.73	0.24493	.	0.519385	0.15847	N	0.241739	T	0.21674	0.0522	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.17098	0.017	T	0.28364	-1.0046	10	0.02654	T	1	-10.6272	6.2894	0.21051	0.2959:0.7041:0.0:0.0	.	80	Q0P670	CQ074_HUMAN	E	80	ENSP00000328061:D80E	ENSP00000328061:D80E	D	+	3	2	C17orf74	7270274	0.633000	0.27181	0.373000	0.26003	0.066000	0.16364	1.841000	0.39240	1.607000	0.50170	0.491000	0.48974	GAC		0.547	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		G	7329550	C	G	7329550	3	3	335	1	0	0	0	0	1	0	0	0	1879	477	17	3	250	3	C17orf74	17	7329550	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09		7329550	73865660	32	17971											
TP53	7157	genome.wustl.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr17:7577551C>T	ENST00000269305.4	-	7	919	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_ENST00000413465.2_Missense_Mutation_p.G244S|TP53_ENST00000445888.2_Missense_Mutation_p.G244S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G244S|TP53_ENST00000455263.2_Missense_Mutation_p.G244S|TP53_ENST00000420246.2_Missense_Mutation_p.G244S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCATGCCGCCCATGCAGGAA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	17											147	111	123					17																	7577551		2203	4300	6503	7518276	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>A	17.37:g.7577551C>T	ENSP00000269305:p.Gly244Ser		7518276	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204381	0.95033	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.946;1.0;1.0;1.0;1.0	D	0.96039	0.9023	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244S;ENSP00000352610:G244S;ENSP00000269305:G244S;ENSP00000398846:G244S;ENSP00000391127:G244S;ENSP00000391478:G244S;ENSP00000425104:G112S;ENSP00000423862:G151S	ENSP00000269305:G244S	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577551	C	T	7577551	3	4	335	1	0	0	0	0	1	0	0	0	16381	623	22	2	560	2	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09	248001	7577551	73617659	33	17972											
SLFN12	55106	genome.wustl.edu	37	17	33738675	33738675	+	Silent	SNP	A	A	G			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr17:33738675A>G	ENST00000394562.1	-	6	1942	c.1419T>C	c.(1417-1419)acT>acC	p.T473T	RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000452764.3_Silent_p.T473T|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Silent_p.T473T			Q8IYM2	SLN12_HUMAN	schlafen family member 12	473							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTTAGGGCAGTTTGTGTAG	0.438																																																0			17											138	131	134					17																	33738675		2203	4300	6503	30762788	SO:0001819	synonymous_variant	55106			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1419T>C	17.37:g.33738675A>G			30762788	A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	CCDS11295.1																																																																																				0.438	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		G	33738675	A	G	33738675	2	3	335	1	0	0	0	0	0	0	0	1	14737	175	7	4		4	SLFN12	17	33738675	Silent	SNP	A	TCGA-29-1707-01A-01W-0633-09	26161124	33738675	47456535	34	17973											
MUC16	94025	genome.wustl.edu	37	19	9047206	9047206	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr19:9047206G>C	ENST00000397910.4	-	5	34628	c.34425C>G	c.(34423-34425)ttC>ttG	p.F11475L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11477	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGTGTTGGGAAAGTTGTAG	0.507																																																0			19											174	169	170					19																	9047206		2038	4197	6235	8908206	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34425C>G	19.37:g.9047206G>C	ENSP00000381008:p.Phe11475Leu		8908206	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.509	0.278917	0.10458	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	2.05	0.995	0.19838	.	.	.	.	.	T	0.04272	0.0118	L	0.38175	1.15	.	.	.	B	0.31730	0.337	B	0.39379	0.298	T	0.31916	-0.9926	8	0.87932	D	0	.	3.5662	0.07900	0.7741:0.0:0.2259:0.0	.	11475	B5ME49	.	L	11475	ENSP00000381008:F11475L	ENSP00000381008:F11475L	F	-	3	2	MUC16	8908206	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.345000	0.07770	0.239000	0.21243	-0.382000	0.06688	TTC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9047206	G	C	9047206	3	2	335	1	0	0	0	0	1	0	0	0	9973	1165	41	3	9418	3	MUC16	19	9047206	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09		9047206	50081777	35	17974											
TMC4	147798	genome.wustl.edu	37	19	54667557	54667557	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr19:54667557G>C	ENST00000376591.4	-	8	1325	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.I392M	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	398					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGCGATGAAGATGGACGGAA	0.562											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			19											102	96	98					19																	54667557		2203	4300	6503	59359369	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1194C>G	19.37:g.54667557G>C	ENSP00000365776:p.Ile398Met	1002	59359369	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842469	0.51057	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.59906	0.23;0.23	4.88	1.32	0.21799	.	0.165634	0.53938	D	0.000055	T	0.61602	0.2360	M	0.78916	2.43	0.80722	D	1	D;P	0.54772	0.968;0.863	P;P	0.55222	0.656;0.771	T	0.59279	-0.7484	10	0.46703	T	0.11	-18.3228	1.7749	0.03019	0.195:0.171:0.4602:0.1738	.	398;392	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	M	392;398	ENSP00000301187:I392M;ENSP00000365776:I398M	ENSP00000301187:I392M	I	-	3	3	TMC4	59359369	0.999000	0.42202	1.000000	0.80357	0.819000	0.46315	0.289000	0.18957	0.515000	0.28320	0.511000	0.50034	ATC		0.562	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			C	54667557	G	C	54667557	3	2	335	1	0	0	0	0	1	0	0	0	15987	932	33	3	976	3	TMC4	19	54667557	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09	45620351	54667557	4461426	36	17975											
ZNF471	57573	genome.wustl.edu	37	19	57036249	57036249	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr19:57036249C>G	ENST00000308031.5	+	5	946	c.813C>G	c.(811-813)ttC>ttG	p.F271L	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Nonsense_Mutation_p.S131*	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	271					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGAAAGCCTTCAAACAAAGTG	0.393																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											0			19											124	136	132					19																	57036249		2203	4300	6503	61728061	SO:0001583	missense	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.813C>G	19.37:g.57036249C>G	ENSP00000309161:p.Phe271Leu		61728061	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978156	0.53720	.	.	ENSG00000196263	ENST00000308031	T	0.46063	0.88	4.09	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62913	0.2467	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.63821	-0.6550	9	0.87932	D	0	.	5.7171	0.17966	0.0:0.6844:0.0:0.3156	.	271	Q9BX82	ZN471_HUMAN	L	271	ENSP00000309161:F271L	ENSP00000309161:F271L	F	+	3	2	ZNF471	61728061	0.004000	0.15560	0.955000	0.39395	0.956000	0.61745	-0.015000	0.12634	0.930000	0.37217	0.462000	0.41574	TTC		0.393	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		G	57036249	C	G	57036249	3	3	335	1	0	0	0	0	1	0	0	0	17930	825	29	3	827	3	ZNF471	19	57036249	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09	2368692	57036249	2092734	37	17976											
JAG1	182	genome.wustl.edu	37	20	10620363	10620363	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr20:10620363G>C	ENST00000254958.5	-	26	3955	c.3440C>G	c.(3439-3441)tCt>tGt	p.S1147C	JAG1_ENST00000423891.2_Missense_Mutation_p.S988C	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1147					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCTTATTTTAGACATTTTGGA	0.493									Alagille Syndrome																																							0			20											160	160	160					20																	10620363		2203	4300	6503	10568363	SO:0001583	missense	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3440C>G	20.37:g.10620363G>C	ENSP00000254958:p.Ser1147Cys		10568363	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331295	0.41297	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.86432	-2.1;-2.12	5.52	5.52	0.82312	.	0.050061	0.85682	D	0.000000	D	0.83344	0.5234	N	0.14661	0.345	0.54753	D	0.999989	B	0.32543	0.375	B	0.41299	0.353	T	0.82750	-0.0303	10	0.52906	T	0.07	.	19.8041	0.96521	0.0:0.0:1.0:0.0	.	1147	P78504	JAG1_HUMAN	C	1147;988	ENSP00000254958:S1147C;ENSP00000389519:S988C	ENSP00000254958:S1147C	S	-	2	0	JAG1	10568363	1.000000	0.71417	0.969000	0.41365	0.990000	0.78478	9.420000	0.97426	2.756000	0.94617	0.563000	0.77884	TCT		0.493	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		C	10620363	G	C	10620363	3	2	335	1	0	0	0	0	1	0	0	0	7934	942	33	3	220	3	JAG1	20	10620363	Missense_Mutation	SNP	G	TCGA-29-1707-01A-01W-0633-09		10620363	52405157	38	17977											
PCIF1	63935	genome.wustl.edu	37	20	44574847	44574847	+	Silent	SNP	C	C	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr20:44574847C>T	ENST00000372409.3	+	14	1801	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	479					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						AGATGATGTTCGGCGTGGGCC	0.657																																																0			20											79	77	78					20																	44574847		2203	4300	6503	44008254	SO:0001819	synonymous_variant	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1437C>T	20.37:g.44574847C>T			44008254	E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	CCDS13388.1																																																																																				0.657	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		T	44574847	C	T	44574847	2	4	335	1	0	0	0	0	0	0	0	1	11580	883	31	1		1	PCIF1	20	44574847	Silent	SNP	C	TCGA-29-1707-01A-01W-0633-09	33954484	44574847	18450673	39	17978											
SAMSN1	64092	genome.wustl.edu	37	21	15872915	15872915	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chr21:15872915T>G	ENST00000400566.1	-	6	784	c.703A>C	c.(703-705)Aac>Cac	p.N235H	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.N67H|SAMSN1_ENST00000285670.2_Missense_Mutation_p.N303H	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	235					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTCCTTCGGTTTGCCTTTATT	0.423																																																0			21											155	140	144					21																	15872915		1837	4081	5918	14794786	SO:0001583	missense	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.703A>C	21.37:g.15872915T>G	ENSP00000383411:p.Asn235His		14794786	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	T	0.390	-0.923782	0.02377	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	T;T	0.42513	0.99;0.97	5.63	3.81	0.43845	Src homology-3 domain (1);Sterile alpha motif/pointed domain (1);	0.945927	0.09010	N	0.861687	T	0.11324	0.0276	N	0.00308	-1.67	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21449	-1.0245	10	0.05436	T	0.98	-0.2001	8.3562	0.32331	0.0709:0.0:0.641:0.288	.	67;303;235	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	H	303;235;67	ENSP00000285670:N303H;ENSP00000383411:N235H	ENSP00000285670:N303H	N	-	1	0	SAMSN1	14794786	0.320000	0.24616	0.016000	0.15963	0.065000	0.16274	3.016000	0.49607	0.728000	0.32382	-0.219000	0.12488	AAC		0.423	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			G	15872915	T	G	15872915	3	3	335	1	0	0	0	0	1	0	0	0	13833	1841	64	5	430	5	SAMSN1	21	15872915	Missense_Mutation	SNP	T	TCGA-29-1707-01A-01W-0633-09		15872915	32256980	40	17979											
PCDH11X	27328	genome.wustl.edu	37	X	91132872	91132872	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chrX:91132872A>T	ENST00000373094.1	+	2	2478	c.1633A>T	c.(1633-1635)Aac>Tac	p.N545Y	PCDH11X_ENST00000298274.8_Missense_Mutation_p.N545Y|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N545Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N545Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N545Y|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N545Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N545Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N545Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N545Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N545Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGCAAAAGATAACGGGGTACC	0.378																																					NSCLC(38;925 1092 2571 38200 45895)											2	Substitution - Missense(2)	lung(2)	X											97	92	94					X																	91132872		2203	4300	6503	91019528	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1633A>T	X.37:g.91132872A>T	ENSP00000362186:p.Asn545Tyr		91019528	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.491513	0.26774	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.38	5.38	0.77491	Cadherin (5);Cadherin-like (1);	0.046634	0.85682	D	0.000000	T	0.70962	0.3284	M	0.84585	2.705	0.52501	D	0.999954	D;D;D;D;D;D;D;D	0.89917	1.0;0.985;1.0;1.0;1.0;1.0;0.997;0.997	D;P;D;D;D;D;D;D	0.81914	0.979;0.689;0.978;0.986;0.986;0.995;0.967;0.967	T	0.76149	-0.3065	10	0.66056	D	0.02	.	13.5121	0.61519	1.0:0.0:0.0:0.0	.	545;545;545;545;545;545;545;545	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Y	545	ENSP00000378746:N545Y;ENSP00000362186:N545Y;ENSP00000362189:N545Y;ENSP00000355040:N545Y;ENSP00000362180:N545Y;ENSP00000423762:N545Y;ENSP00000355105:N545Y;ENSP00000384758:N545Y;ENSP00000298274:N545Y	ENSP00000298274:N545Y	N	+	1	0	PCDH11X	91019528	1.000000	0.71417	0.994000	0.49952	0.299000	0.27559	6.982000	0.76173	1.786000	0.52430	0.441000	0.28932	AAC		0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91132872	A	T	91132872	3	4	335	1	0	0	0	0	1	0	0	0	11508	362	13	5	1639	5	PCDH11X	23	91132872	Missense_Mutation	SNP	A	TCGA-29-1707-01A-01W-0633-09		91132872	64137688	41	17980											
THOC2	57187	genome.wustl.edu	37	X	122771930	122771930	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chrX:122771930T>A	ENST00000245838.8	-	18	1916	c.1885A>T	c.(1885-1887)Aaa>Taa	p.K629*	THOC2_ENST00000355725.4_Nonsense_Mutation_p.K629*|THOC2_ENST00000491737.1_Nonsense_Mutation_p.K514*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	629					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCATCATGTTTCATTCTTTCC	0.308																																																0			X											138	114	121					X																	122771930		1843	4075	5918	122599611	SO:0001587	stop_gained	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1885A>T	X.37:g.122771930T>A	ENSP00000245838:p.Lys629*		122599611	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Nonsense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	40	7.977493	0.98591	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1818	14.7751	0.69726	0.0:0.0:0.0:1.0	.	.	.	.	X	629;629;514;554	.	ENSP00000245838:K629X	K	-	1	0	THOC2	122599611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	1.938000	0.56188	0.441000	0.28932	AAA		0.308	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			A	122771930	T	A	122771930	4	1	335	1	0	0	0	0	0	1	0	0	15865	1792	62	5	2980	5	THOC2	23	122771930	Nonsense_Mutation	SNP	T	TCGA-29-1707-01A-01W-0633-09	31639058	122771930	32498630	42	17981											
AFF2	2334	genome.wustl.edu	37	X	147743677	147743677	+	Silent	SNP	A	A	T			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chrX:147743677A>T	ENST00000370460.2	+	3	908	c.429A>T	c.(427-429)atA>atT	p.I143I	AFF2_ENST00000370457.5_Silent_p.I139I|AFF2_ENST00000342251.3_Silent_p.I139I|AFF2_ENST00000370458.1_Silent_p.I139I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	143					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTGTGATACTGAATTCAA	0.438																																																0			X											213	207	209					X																	147743677		2203	4300	6503	147551369	SO:0001819	synonymous_variant	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.429A>T	X.37:g.147743677A>T			147551369	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				0.438	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	147743677	A	T	147743677	2	4	335	1	0	0	0	0	0	0	0	1	357	381	14	5		5	AFF2	23	147743677	Silent	SNP	A	TCGA-29-1707-01A-01W-0633-09	24971747	147743677	7526883	43	17982											
SPRY3	10251	genome.wustl.edu	37	X	155003962	155003962	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1707-01A-01W-0633-09	TCGA-29-1707-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db789a5f-7121-4c07-9318-69b20a09b845	b8634be5-d88b-44bc-8b90-2ace472f3a2a	g.chrX:155003962C>A	ENST00000302805.2	+	2	860	c.429C>A	c.(427-429)caC>caA	p.H143Q		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	143					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTAGTGAGCACCTCTTCATCT	0.602																																																0			X											107	111	110					X																	155003962		2203	4296	6499	154657156	SO:0001583	missense	10251			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.429C>A	X.37:g.155003962C>A	ENSP00000302978:p.His143Gln		154657156	A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827551	0.32329	.	.	ENSG00000168939	ENST00000302805	T	0.57907	0.37	2.71	2.71	0.32032	.	0.060393	0.64402	D	0.000003	T	0.57770	0.2076	.	.	.	0.09310	N	1	D	0.58970	0.984	P	0.59595	0.86	T	0.45454	-0.9260	9	0.51188	T	0.08	-3.628	5.1726	0.15118	0.0:0.8247:0.0:0.1753	.	143	O43610	SPY3_HUMAN	Q	143	ENSP00000302978:H143Q	ENSP00000302978:H143Q	H	+	3	2	SPRY3	154657156	0.996000	0.38824	1.000000	0.80357	0.477000	0.33069	1.031000	0.30165	1.366000	0.46076	0.279000	0.19357	CAC		0.602	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		A	155003962	C	A	155003962	3	1	335	1	0	0	0	0	1	0	0	0	15109	506	18	3	431	3	SPRY3	23	155003962	Missense_Mutation	SNP	C	TCGA-29-1707-01A-01W-0633-09	7260285	155003962	266598	44	17983											
HNRNPR	10236	genome.wustl.edu	37	1	23648137	23648137	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr1:23648137C>T	ENST00000374612.1	-	7	818	c.695G>A	c.(694-696)cGc>cAc	p.R232H	HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H|HNRNPR_ENST00000478691.1_Missense_Mutation_p.R131H|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	232	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACCAGGGCGAATTTCATA	0.378																																																0			1											112	117	115					1																	23648137		2203	4300	6503	23520724	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.695G>A	1.37:g.23648137C>T	ENSP00000363741:p.Arg232His		23520724	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146399	0.94603	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.35789	1.94;1.92;1.92;1.29;2.77	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.992;1.0	P;D;D;D;P;D	0.91635	0.826;0.999;0.999;0.996;0.877;0.993	T	0.60611	-0.7229	10	0.72032	D	0.01	-1.4045	16.9396	0.86213	0.0:1.0:0.0:0.0	.	72;194;93;209;232;232	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	H	232;232;232;194;72	ENSP00000363745:R232H;ENSP00000363741:R232H;ENSP00000304405:R232H;ENSP00000392799:R194H;ENSP00000415042:R72H	ENSP00000304405:R232H	R	-	2	0	HNRNPR	23520724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.669000	0.83911	2.430000	0.82344	0.561000	0.74099	CGC		0.378	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		T	23648137	C	T	23648137	3	4	336	1	0	0	0	0	1	0	0	0	7272	768	27	1	1235	1	HNRNPR	1	23648137	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09		23648137	225602484	1	17984											
BAI2	576	genome.wustl.edu	37	1	32205173	32205173	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr1:32205173C>A	ENST00000373658.3	-	15	2572	c.2231G>T	c.(2230-2232)gGc>gTc	p.G744V	BAI2_ENST00000257070.4_Missense_Mutation_p.G744V|BAI2_ENST00000440175.2_Missense_Mutation_p.G386V|BAI2_ENST00000398556.3_Missense_Mutation_p.G692V|BAI2_ENST00000398547.1_Missense_Mutation_p.G677V|BAI2_ENST00000527361.1_Missense_Mutation_p.G744V|BAI2_ENST00000373655.2_Missense_Mutation_p.G744V|BAI2_ENST00000398538.1_Missense_Mutation_p.G732V|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000398542.1_Missense_Mutation_p.G677V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	744					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCCCGGCGGCCCCGCATGGG	0.637																																																0			1											32	35	34					1																	32205173		2195	4283	6478	31977760	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2231G>T	1.37:g.32205173C>A	ENSP00000362762:p.Gly744Val		31977760	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920683	0.92249	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T;T;T;T	0.45668	1.62;1.81;0.91;0.91;1.99;0.89;0.89;1.64;0.94;1.62	4.8	4.8	0.61643	Domain of unknown function DUF3497 (1);	0.000000	0.43747	D	0.000523	T	0.63861	0.2547	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D	0.85130	0.988;0.995;0.997;0.997;0.988;0.997	T	0.67968	-0.5533	10	0.87932	D	0	.	17.0918	0.86624	0.0:1.0:0.0:0.0	.	744;732;386;677;744;744	O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	V	692;677;744;744;677;744;744;386;732;682	ENSP00000381564:G692V;ENSP00000381555:G677V;ENSP00000362762:G744V;ENSP00000362759:G744V;ENSP00000381550:G677V;ENSP00000257070:G744V;ENSP00000435397:G744V;ENSP00000391071:G386V;ENSP00000381548:G732V;ENSP00000410921:G682V	ENSP00000257070:G744V	G	-	2	0	BAI2	31977760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.389000	0.79806	2.405000	0.81733	0.456000	0.33151	GGC		0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		A	32205173	C	A	32205173	3	1	336	1	0	0	0	0	1	0	0	0	1299	739	26	3	2602	3	BAI2	1	32205173	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09	8557036	32205173	217045448	2	17985											
SLC16A1	6566	genome.wustl.edu	37	1	113456691	113456691	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr1:113456691C>A	ENST00000538576.1	-	5	2156	c.1325G>T	c.(1324-1326)gGc>gTc	p.G442V	SLC16A1_ENST00000369626.3_Missense_Mutation_p.G442V	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	442					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	ATAATTGATGCCCATGCCAAT	0.413																																																0			1											157	146	150					1																	113456691		2203	4300	6503	113258214	SO:0001583	missense	6566			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1325G>T	1.37:g.113456691C>A	ENSP00000441065:p.Gly442Val		113258214	Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272356	0.23221	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229	T;T;T	0.80393	-1.37;-1.37;2.27	5.91	5.0	0.66597	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.142668	0.64402	D	0.000006	T	0.66973	0.2844	M	0.61703	1.905	0.80722	D	1	B	0.15473	0.013	B	0.23018	0.043	T	0.65681	-0.6109	10	0.18276	T	0.48	.	15.2599	0.73613	0.0:0.7344:0.2656:0.0	.	442	P53985	MOT1_HUMAN	V	442	ENSP00000358640:G442V;ENSP00000441065:G442V;ENSP00000416167:G442V	ENSP00000358640:G442V	G	-	2	0	SLC16A1	113258214	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.600000	0.36762	1.507000	0.48752	-0.156000	0.13503	GGC		0.413	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		A	113456691	C	A	113456691	3	1	336	1	0	0	0	0	1	0	0	0	14405	739	26	3	181	3	SLC16A1	1	113456691	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09	81251518	113456691	135793930	3	17986											
PLEKHH2	130271	genome.wustl.edu	37	2	43969967	43969967	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr2:43969967G>A	ENST00000282406.4	+	22	3419	c.3309G>A	c.(3307-3309)agG>agA	p.R1103R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1103	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACCCTCAAGGATGGAAATTC	0.408																																																0			2											175	154	161					2																	43969967		2203	4300	6503	43823471	SO:0001819	synonymous_variant	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3309G>A	2.37:g.43969967G>A			43823471	Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	CCDS1812.1																																																																																				0.408	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		A	43969967	G	A	43969967	2	1	336	1	0	0	0	0	0	0	0	1	12077	1165	41	2		2	PLEKHH2	2	43969967	Silent	SNP	G	TCGA-29-1710-01A-02W-0633-09		43969967	199229406	4	17987											
ARHGAP15	55843	genome.wustl.edu	37	2	143913084	143913084	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr2:143913084A>G	ENST00000295095.6	+	2	192	c.25A>G	c.(25-27)Act>Gct	p.T9A	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.T9A	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	9					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAATTCTGATACTTCCGTGGA	0.363																																																0			2											60	55	56					2																	143913084		2203	4300	6503	143629554	SO:0001583	missense	55843			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.25A>G	2.37:g.143913084A>G	ENSP00000295095:p.Thr9Ala		143629554	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.526361	0.27299	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.06849	3.25	5.96	2.42	0.29668	.	0.558546	0.18908	N	0.127842	T	0.04634	0.0126	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43245	-0.9403	10	0.13108	T	0.6	.	5.9561	0.19273	0.7024:0.0:0.181:0.1166	.	9;9	B4E0R3;Q53QZ3	.;RHG15_HUMAN	A	9	ENSP00000295095:T9A	ENSP00000295095:T9A	T	+	1	0	ARHGAP15	143629554	0.118000	0.22208	0.803000	0.32268	0.712000	0.41017	0.611000	0.24268	1.069000	0.40788	-0.264000	0.10439	ACT		0.363	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		G	143913084	A	G	143913084	3	3	336	1	0	0	0	0	1	0	0	0	866	391	14	4	27	4	ARHGAP15	2	143913084	Missense_Mutation	SNP	A	TCGA-29-1710-01A-02W-0633-09	99943117	143913084	99286289	5	17988											
ADAM23	8745	genome.wustl.edu	37	2	207408002	207408002	+	Missense_Mutation	SNP	G	G	A	rs199943814		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr2:207408002G>A	ENST00000264377.3	+	6	1010	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	ADAM23_ENST00000374415.3_Missense_Mutation_p.V228M|ADAM23_ENST00000374416.1_Missense_Mutation_p.V228M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	228					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGATACCTTCGTGTATATGAT	0.433													G|||	1	0.000199681	0	0	5008	,	,		18999	0.001		0	False		,,,				2504	0				Melanoma(194;1127 2130 19620 24042 27855)											0			2											164	137	146					2																	207408002		2203	4300	6503	207116247	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.682G>A	2.37:g.207408002G>A	ENSP00000264377:p.Val228Met		207116247	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.13	1.845534	0.32606	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.05996	3.36;3.36;3.36	5.43	3.26	0.37387	Peptidase M12B, propeptide (1);	0.137507	0.33813	N	0.004528	T	0.04588	0.0125	N	0.20483	0.58	0.32050	N	0.597027	B	0.29037	0.231	B	0.25884	0.064	T	0.10636	-1.0621	10	0.48119	T	0.1	.	10.729	0.46085	0.1801:0.0:0.8199:0.0	.	228	O75077	ADA23_HUMAN	M	228;228;122;228	ENSP00000264377:V228M;ENSP00000363537:V228M;ENSP00000363536:V228M	ENSP00000264377:V228M	V	+	1	0	ADAM23	207116247	0.955000	0.32602	0.816000	0.32577	0.827000	0.46813	0.389000	0.20751	1.284000	0.44531	0.555000	0.69702	GTG		0.433	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		A	207408002	G	A	207408002	3	1	336	1	0	0	0	0	1	0	0	0	245	1145	40	1	704	1	ADAM23	2	207408002	Missense_Mutation	SNP	G	TCGA-29-1710-01A-02W-0633-09	63494918	207408002	35791371	6	17989											
GPR55	9290	genome.wustl.edu	37	2	231775372	231775372	+	Silent	SNP	G	G	A	rs144507378		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr2:231775372G>A	ENST00000392040.1	-	2	498	c.306C>T	c.(304-306)ttC>ttT	p.F102F	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Silent_p.F102F	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	102					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ACATGCTGACGAAGTAAAGGC	0.592																																																0			2						G		0,4406		0,0,2203	66	44	52		306	0.2	0.8	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR55	NM_005683.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		102/320	231775372	1,13005	2203	4300	6503	231483616	SO:0001819	synonymous_variant	9290			AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.306C>T	2.37:g.231775372G>A			231483616	Q8N580	Silent	SNP	ENST00000392040.1	37	CCDS2480.1																																																																																				0.592	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		A	231775372	G	A	231775372	2	1	336	1	0	0	0	0	0	0	0	1	6699	1049	37	1		1	GPR55	2	231775372	Silent	SNP	G	TCGA-29-1710-01A-02W-0633-09	24367370	231775372	11424001	7	17990											
LRRFIP2	9209	genome.wustl.edu	37	3	37190397	37190397	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr3:37190397G>A	ENST00000336686.4	-	2	158	c.78C>T	c.(76-78)aaC>aaT	p.N26N	LRRFIP2_ENST00000396428.2_Silent_p.N26N|LRRFIP2_ENST00000354379.4_Silent_p.N26N|LRRFIP2_ENST00000421276.2_Silent_p.N26N|LRRFIP2_ENST00000421307.1_Silent_p.N26N|LRRFIP2_ENST00000440230.1_Silent_p.N26N			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	26	DVL3-binding.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTCTGGCAATGTTACTCAAAG	0.398																																																0			3											160	149	153					3																	37190397		2203	4300	6503	37165401	SO:0001819	synonymous_variant	9209			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.78C>T	3.37:g.37190397G>A			37165401	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	ENST00000336686.4	37	CCDS2664.1																																																																																				0.398	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		A	37190397	G	A	37190397	2	1	336	1	0	0	0	0	0	0	0	1	9028	1368	48	2		2	LRRFIP2	3	37190397	Silent	SNP	G	TCGA-29-1710-01A-02W-0633-09		37190397	160832033	8	17991											
EPHA6	285220	genome.wustl.edu	37	3	97439134	97439134	+	Silent	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr3:97439134C>A	ENST00000389672.5	+	15	2852	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	844	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGTGGACAGCCCCAGAAGCCA	0.428																																																0			3											72	76	75					3																	97439134		1999	4227	6226	98921824	SO:0001819	synonymous_variant	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2814C>A	3.37:g.97439134C>A			98921824	D6RAL5	Silent	SNP	ENST00000389672.5	37	CCDS46876.1																																																																																				0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		A	97439134	C	A	97439134	2	1	336	1	0	0	0	0	0	0	0	1	5171	610	22	3		3	EPHA6	3	97439134	Silent	SNP	C	TCGA-29-1710-01A-02W-0633-09	60248737	97439134	100583296	9	17992											
GPR128	84873	genome.wustl.edu	37	3	100413609	100413609	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr3:100413609T>C	ENST00000273352.3	+	16	2426	c.2158T>C	c.(2158-2160)Tac>Cac	p.Y720H	GPR128_ENST00000475887.1_Missense_Mutation_p.Y425H|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	720					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTTTATCCTGTACACTGTTAG	0.408																																					Pancreas(87;185 1975 7223 18722)											0			3											71	74	73					3																	100413609		2203	4300	6503	101896299	SO:0001583	missense	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2158T>C	3.37:g.100413609T>C	ENSP00000273352:p.Tyr720His		101896299	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.406889	0.01155	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.61859	0.07;0.07	5.52	0.495	0.16890	GPCR, family 2-like (1);	0.105638	0.42682	N	0.000673	T	0.45637	0.1352	L	0.56769	1.78	0.19945	N	0.999944	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.34750	-0.9816	10	0.12103	T	0.63	.	9.1893	0.37189	0.0:0.3168:0.0:0.6832	.	425;720	E9PHI0;Q96K78	.;GP128_HUMAN	H	720;425	ENSP00000273352:Y720H;ENSP00000419788:Y425H	ENSP00000273352:Y720H	Y	+	1	0	GPR128	101896299	0.124000	0.22315	0.088000	0.20740	0.056000	0.15407	0.099000	0.15210	-0.163000	0.10946	-1.162000	0.01777	TAC		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			C	100413609	T	C	100413609	3	2	336	1	0	0	0	0	1	0	0	0	6641	1638	57	4	2220	4	GPR128	3	100413609	Missense_Mutation	SNP	T	TCGA-29-1710-01A-02W-0633-09	2974475	100413609	97608821	10	17993											
ZBTB20	26137	genome.wustl.edu	37	3	114069698	114069698	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr3:114069698G>A	ENST00000474710.1	-	4	1405	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.P336P|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20_ENST00000393785.2_Silent_p.P336P|ZBTB20_ENST00000462705.1_Silent_p.P336P|ZBTB20_ENST00000357258.3_Silent_p.P336P	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	409						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGCCTGCTCGGGTTGGGTGG	0.637																																					NSCLC(69;748 1344 9802 11203 30933)											0			3											47	51	50					3																	114069698		2203	4300	6503	115552388	SO:0001819	synonymous_variant	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1227C>T	3.37:g.114069698G>A			115552388	Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	CCDS54626.1																																																																																				0.637	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		A	114069698	G	A	114069698	2	1	336	1	0	0	0	0	0	0	0	1	17529	1103	39	1		1	ZBTB20	3	114069698	Silent	SNP	G	TCGA-29-1710-01A-02W-0633-09	13656089	114069698	83952732	11	17994											
ADAD1	132612	genome.wustl.edu	37	4	123317479	123317479	+	Missense_Mutation	SNP	G	G	A	rs113377246		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr4:123317479G>A	ENST00000296513.2	+	7	856	c.671G>A	c.(670-672)cGt>cAt	p.R224H	ADAD1_ENST00000388725.2_Missense_Mutation_p.R206H|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.R224H	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	224					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.R224L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTCTAATCGTTCAGAATAC	0.274																																																1	Substitution - Missense(1)	lung(1)	4											54	60	58					4																	123317479		2200	4290	6490	123536929	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.671G>A	4.37:g.123317479G>A	ENSP00000296513:p.Arg224His		123536929	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	3.018	-0.202484	0.06219	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.29397	1.57;1.57;1.57	5.49	4.31	0.51392	Adenosine deaminase/editase (1);	0.265992	0.42964	N	0.000627	T	0.09069	0.0224	N	0.00677	-1.265	0.19775	N	0.999952	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28933	-1.0028	10	0.15066	T	0.55	-7.6256	10.3901	0.44164	0.9216:0.0:0.0784:0.0	.	224;224	Q96M93-2;Q96M93	.;ADAD1_HUMAN	H	224;224;224;206	ENSP00000296513:R224H;ENSP00000373376:R224H;ENSP00000373377:R206H	ENSP00000296513:R224H	R	+	2	0	ADAD1	123536929	0.999000	0.42202	0.974000	0.42286	0.742000	0.42306	3.547000	0.53663	0.933000	0.37291	-0.238000	0.12139	CGT		0.274	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		A	123317479	G	A	123317479	3	1	336	1	0	0	0	0	1	0	0	0	231	1145	40	1	689	1	ADAD1	4	123317479	Missense_Mutation	SNP	G	TCGA-29-1710-01A-02W-0633-09		123317479	67836797	12	17995											
RBM46	166863	genome.wustl.edu	37	4	155720635	155720635	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr4:155720635A>T	ENST00000281722.3	+	4	1556	c.1321A>T	c.(1321-1323)Agt>Tgt	p.S441C	RBM46_ENST00000510397.1_Missense_Mutation_p.S441C|RBM46_ENST00000514866.1_Missense_Mutation_p.S441C	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	441							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGATCCCAGAGTTACTTCAT	0.368																																																0			4											30	32	31					4																	155720635		2164	4289	6453	155940085	SO:0001583	missense	166863			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1321A>T	4.37:g.155720635A>T	ENSP00000281722:p.Ser441Cys		155940085	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386368	0.61956	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.18338	2.23;2.22;2.37	6.08	6.08	0.98989	.	0.165435	0.64402	D	0.000014	T	0.25531	0.0621	L	0.40543	1.245	0.43408	D	0.995543	D;D;D	0.65815	0.995;0.962;0.987	P;P;P	0.51355	0.662;0.57;0.667	T	0.00374	-1.1780	10	0.51188	T	0.08	-23.4452	16.6512	0.85203	1.0:0.0:0.0:0.0	.	441;441;441	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	C	441	ENSP00000424500:S441C;ENSP00000281722:S441C;ENSP00000422813:S441C	ENSP00000281722:S441C	S	+	1	0	RBM46	155940085	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.822000	0.62686	2.333000	0.79357	0.482000	0.46254	AGT		0.368	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		T	155720635	A	T	155720635	3	4	336	1	0	0	0	0	1	0	0	0	13143	304	11	5	1331	5	RBM46	4	155720635	Missense_Mutation	SNP	A	TCGA-29-1710-01A-02W-0633-09	32403156	155720635	35433641	13	17996											
FAT2	2196	genome.wustl.edu	37	5	150914029	150914029	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr5:150914029A>G	ENST00000261800.5	-	12	9380	c.9368T>C	c.(9367-9369)tTc>tCc	p.F3123S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3123	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGTTGTCGAAGACAGCCAC	0.567																																																0			5											56	51	52					5																	150914029		2203	4300	6503	150894222	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9368T>C	5.37:g.150914029A>G	ENSP00000261800:p.Phe3123Ser		150894222	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286962	0.59867	.	.	ENSG00000086570	ENST00000261800	T	0.02763	4.17	5.75	4.59	0.56863	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000008	T	0.04861	0.0131	N	0.21282	0.65	0.50813	D	0.999897	D	0.89917	1.0	D	0.91635	0.999	T	0.53570	-0.8420	10	0.06494	T	0.89	.	6.6844	0.23136	0.7923:0.0:0.0717:0.1361	.	3123	Q9NYQ8	FAT2_HUMAN	S	3123	ENSP00000261800:F3123S	ENSP00000261800:F3123S	F	-	2	0	FAT2	150894222	1.000000	0.71417	0.800000	0.32199	0.569000	0.35902	6.074000	0.71253	1.016000	0.39470	0.460000	0.39030	TTC		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150914029	A	G	150914029	3	3	336	1	0	0	0	0	1	0	0	0	5690	246	9	4	3729	4	FAT2	5	150914029	Missense_Mutation	SNP	A	TCGA-29-1710-01A-02W-0633-09		150914029	30001231	14	17997											
PSMB9	5698	genome.wustl.edu	37	6	32827190	32827190	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr6:32827190C>G	ENST00000374859.2	+	6	610	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	PSMB9_ENST00000395330.1_Missense_Mutation_p.L158V	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	181					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	AGCTATTGCTCTGGCCATGAG	0.527																																																0			6											170	181	177					6																	32827190		2203	4300	6503	32935168	SO:0001583	missense	5698				CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"Proteasome (prosome, macropain) subunits"	9546	protein-coding gene	gene with protein product		177045	"proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)", "large multifunctional peptidase 2"	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.541C>G	6.37:g.32827190C>G	ENSP00000363993:p.Leu181Val		32935168	B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	ENST00000374859.2	37	CCDS4759.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262710	0.59431	.	.	ENSG00000240065	ENST00000395330;ENST00000374859	T;T	0.21361	2.01;2.01	5.23	4.36	0.52297	.	0.000000	0.64402	D	0.000001	T	0.42810	0.1219	M	0.90252	3.1	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.53215	-0.8470	10	0.56958	D	0.05	-19.0193	12.1024	0.53792	0.0:0.9164:0.0:0.0836	.	181	P28065	PSB9_HUMAN	V	158;181	ENSP00000378739:L158V;ENSP00000363993:L181V	ENSP00000363993:L181V	L	+	1	2	PSMB9	32935168	0.988000	0.35896	0.999000	0.59377	0.996000	0.88848	1.401000	0.34589	1.570000	0.49709	0.643000	0.83706	CTG		0.527	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076624.5	NM_002800		G	32827190	C	G	32827190	3	3	336	1	0	0	0	0	1	0	0	0	12687	912	32	3	563	3	PSMB9	6	32827190	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09		32827190	138287877	15	17998											
C7orf43	55262	genome.wustl.edu	37	7	99754755	99754755	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr7:99754755G>A	ENST00000316937.3	-	5	992	c.807C>T	c.(805-807)gtC>gtT	p.V269V	C7orf43_ENST00000457641.1_5'UTR|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000419841.1_Silent_p.V37V|MIR4658_ENST00000584344.1_RNA	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	269										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATCGGGCATGACAGGTAGAT	0.582																																																0			7											139	131	134					7																	99754755		2203	4300	6503	99592691	SO:0001819	synonymous_variant	55262				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.807C>T	7.37:g.99754755G>A			99592691	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092447	0.20471	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	T	0.73361	0.3577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71902	-0.4452	4	.	.	.	-18.1106	16.8401	0.85966	0.0:0.0:1.0:0.0	.	.	.	.	Y	175	.	.	H	-	1	0	C7orf43	99592691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.985000	0.40668	2.584000	0.87258	0.462000	0.41574	CAT		0.582	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		A	99754755	G	A	99754755	2	1	336	1	0	0	0	0	0	0	0	1	2393	1277	45	2		2	C7orf43	7	99754755	Silent	SNP	G	TCGA-29-1710-01A-02W-0633-09		99754755	59383908	16	17999											
MYL10	93408	genome.wustl.edu	37	7	101259543	101259543	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr7:101259543T>C	ENST00000223167.4	-	6	667	c.490A>G	c.(490-492)Aaa>Gaa	p.K164E		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	164	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCGAACACTTTGAAGGCGTGG	0.562																																					Esophageal Squamous(24;575 709 17516 40384 51639)											0			7											115	92	100					7																	101259543		2203	4300	6503	101046263	SO:0001583	missense	93408			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.490A>G	7.37:g.101259543T>C	ENSP00000223167:p.Lys164Glu		101046263		Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524649	0.85600	.	.	ENSG00000106436	ENST00000223167	T	0.72394	-0.65	4.78	4.78	0.61160	EF-hand-like domain (1);	0.234063	0.33572	N	0.004766	T	0.79851	0.4517	L	0.57536	1.79	0.54753	D	0.999987	D	0.56035	0.974	D	0.68765	0.96	T	0.80942	-0.1157	10	0.56958	D	0.05	.	12.3299	0.55033	0.0:0.0:0.0:1.0	.	164	Q9BUA6	MYL10_HUMAN	E	164	ENSP00000223167:K164E	ENSP00000223167:K164E	K	-	1	0	MYL10	101046263	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	7.219000	0.78000	1.804000	0.52760	0.524000	0.50904	AAA		0.562	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		C	101259543	T	C	101259543	3	2	336	1	0	0	0	0	1	0	0	0	10044	1821	63	4	202	4	MYL10	7	101259543	Missense_Mutation	SNP	T	TCGA-29-1710-01A-02W-0633-09	1504788	101259543	57879120	17	18000											
DOCK5	80005	genome.wustl.edu	37	8	25261149	25261149	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr8:25261149C>T	ENST00000276440.7	+	48	5046	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1668					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCCACTCTGCGGAGGTTGTC	0.522																																					Pancreas(145;34 1887 3271 10937 30165)											0			8											248	206	220					8																	25261149		2203	4300	6503	25317066	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.5002C>T	8.37:g.25261149C>T	ENSP00000276440:p.Arg1668Trp		25317066	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853124	0.71719	.	.	ENSG00000147459	ENST00000276440	T	0.04917	3.53	5.81	4.91	0.64330	.	0.063063	0.64402	D	0.000005	T	0.20577	0.0495	L	0.59436	1.845	0.50632	D	0.999888	D	0.89917	1.0	D	0.79784	0.993	T	0.00028	-1.2297	10	0.72032	D	0.01	.	13.8644	0.63578	0.3133:0.6867:0.0:0.0	.	1668	Q9H7D0	DOCK5_HUMAN	W	1668	ENSP00000276440:R1668W	ENSP00000276440:R1668W	R	+	1	2	DOCK5	25317066	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	1.212000	0.32394	2.746000	0.94184	0.655000	0.94253	CGG		0.522	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25261149	C	T	25261149	3	4	336	1	0	0	0	0	1	0	0	0	4690	759	27	1	5192	1	DOCK5	8	25261149	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09		25261149	121102873	18	18001											
CHD7	55636	genome.wustl.edu	37	8	61654396	61654396	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr8:61654396G>A	ENST00000423902.2	+	2	884	c.405G>A	c.(403-405)ggG>ggA	p.G135G	CHD7_ENST00000524602.1_Silent_p.G135G|CHD7_ENST00000525508.1_Silent_p.G135G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	135					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAGGCATGGGCAATCCTTTG	0.622																																																0			8											40	49	46					8																	61654396		2150	4263	6413	61816950	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.405G>A	8.37:g.61654396G>A			61816950	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.622	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61654396	G	A	61654396	2	1	336	1	0	0	0	0	0	0	0	1	3330	1190	42	2		2	CHD7	8	61654396	Silent	SNP	G	TCGA-29-1710-01A-02W-0633-09	36393247	61654396	84709626	19	18002											
RNF20	56254	genome.wustl.edu	37	9	104302596	104302596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr9:104302596C>T	ENST00000389120.3	+	3	331	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	81					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AAAACTGGAACGACGACAGGC	0.418																																																0			9											171	154	160					9																	104302596		2203	4300	6503	103342417	SO:0001587	stop_gained	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.241C>T	9.37:g.104302596C>T	ENSP00000373772:p.Arg81*		103342417	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Nonsense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200720	0.58126	.	.	ENSG00000155827	ENST00000389120;ENST00000478347;ENST00000488264;ENST00000374819;ENST00000479306;ENST00000466817	.	.	.	4.17	4.17	0.49024	.	0.071328	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-5.6959	11.8379	0.52336	0.1752:0.8248:0.0:0.0	.	.	.	.	X	81;69;67;81;81;81	.	ENSP00000363952:R81X	R	+	1	2	RNF20	103342417	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.083000	0.64456	2.338000	0.79540	0.462000	0.41574	CGA		0.418	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		T	104302596	C	T	104302596	4	4	336	1	0	0	0	0	0	1	0	0	13476	528	19	1	247	1	RNF20	9	104302596	Nonsense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09		104302596	36910835	20	18003											
ZNF488	118738	genome.wustl.edu	37	10	48370999	48370999	+	Missense_Mutation	SNP	G	G	A	rs536291384		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr10:48370999G>A	ENST00000395702.2	+	2	694	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.R49Q			Q96MN9	ZN488_HUMAN	zinc finger protein 488	156					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGCGGAGCACGAAGTGAGCAA	0.597													N|||	1	0.000199681	0	0	5008	,	,		17398	0.001		0	False		,,,				2504	0															0			10											59	59	59					10																	48370999		2203	4300	6503	47991005	SO:0001583	missense	118738			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.467G>A	10.37:g.48370999G>A	ENSP00000379054:p.Arg156Gln		47991005	Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	g	13.11	2.139759	0.37728	.	.	ENSG00000165388	ENST00000395702	T	0.23754	1.89	5.34	-3.4	0.04853	.	0.675627	0.13449	N	0.387091	T	0.11793	0.0287	L	0.55481	1.735	0.09310	N	1	P	0.43938	0.822	B	0.23419	0.046	T	0.18587	-1.0332	10	0.35671	T	0.21	.	1.3918	0.02252	0.2392:0.1838:0.3968:0.1802	.	156	Q96MN9	ZN488_HUMAN	Q	156	ENSP00000379054:R156Q	ENSP00000379054:R156Q	R	+	2	0	ZNF488	47991005	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	0.192000	0.17096	-0.402000	0.07633	0.556000	0.70494	CGA		0.597	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		A	48370999	G	A	48370999	3	1	336	1	0	0	0	0	1	0	0	0	17940	1058	37	1	469	1	ZNF488	10	48370999	Missense_Mutation	SNP	G	TCGA-29-1710-01A-02W-0633-09		48370999	87163748	21	18004											
DKK3	27122	genome.wustl.edu	37	11	12023930	12023930	+	Silent	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr11:12023930A>G	ENST00000396505.2	-	3	506	c.268T>C	c.(268-270)Tta>Cta	p.L90L	DKK3_ENST00000326932.4_Silent_p.L90L|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Silent_p.L90L|DKK3_ENST00000525493.1_Silent_p.L90L	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	90					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CTGGGAGGTAAGTTTGCCAGG	0.408																																																0			11											293	246	262					11																	12023930		2201	4294	6495	11980506	SO:0001819	synonymous_variant	27122			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"regulated in glioma"	605416	"dickkopf (Xenopus laevis) homolog 3", "dickkopf 3 homolog (Xenopus laevis)"			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.268T>C	11.37:g.12023930A>G			11980506	A8K1I2|D3DQW1|Q9ULB7	Silent	SNP	ENST00000396505.2	37	CCDS7808.1																																																																																				0.408	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		G	12023930	A	G	12023930	2	3	336	1	0	0	0	0	0	0	0	1	4546	69	3	4		4	DKK3	11	12023930	Silent	SNP	A	TCGA-29-1710-01A-02W-0633-09		12023930	122982586	22	18005											
DPP3	10072	genome.wustl.edu	37	11	66258843	66258843	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr11:66258843G>A	ENST00000360510.2	+	7	852	c.787G>A	c.(787-789)Gag>Aag	p.E263K	DPP3_ENST00000531863.1_Missense_Mutation_p.E283K|DPP3_ENST00000530165.1_Missense_Mutation_p.E233K|DPP3_ENST00000532677.1_Missense_Mutation_p.E282K|DPP3_ENST00000541961.1_Missense_Mutation_p.E263K|DPP3_ENST00000453114.1_Missense_Mutation_p.E263K			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	263					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGAGCAGCTGGAGAAAGCCAA	0.657											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											36	42	40					11																	66258843		2199	4295	6494	66015419	SO:0001583	missense	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.787G>A	11.37:g.66258843G>A	ENSP00000353701:p.Glu263Lys	1090	66015419	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065403	0.36470	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000533725;ENST00000543807	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.2	4.28	0.50868	.	0.205070	0.49916	N	0.000132	T	0.11623	0.0283	N	0.13003	0.285	0.43846	D	0.996435	B;B	0.09022	0.002;0.0	B;B	0.12837	0.008;0.004	T	0.09422	-1.0675	10	0.10902	T	0.67	.	12.1463	0.54026	0.0851:0.0:0.9149:0.0	.	282;263	G3V1D3;Q9NY33	.;DPP3_HUMAN	K	283;282;263;263;263;233;161;161	ENSP00000432782:E283K;ENSP00000435284:E282K;ENSP00000353701:E263K;ENSP00000389943:E263K;ENSP00000440502:E263K;ENSP00000436941:E233K;ENSP00000434518:E161K	ENSP00000353701:E263K	E	+	1	0	DPP3	66015419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.168000	0.42424	1.316000	0.45131	0.650000	0.86243	GAG		0.657	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			A	66258843	G	A	66258843	3	1	336	1	0	0	0	0	1	0	0	0	4728	1175	41	2	809	2	DPP3	11	66258843	Missense_Mutation	SNP	G	TCGA-29-1710-01A-02W-0633-09	54234913	66258843	68747673	23	18006											
OR8B4	283162	genome.wustl.edu	37	11	124294209	124294209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr11:124294209delA	ENST00000356130.3	-	1	580	c.559delT	c.(559-561)tccfs	p.S187fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTGGTGCAGGAGAGCTGCAAG	0.498																																																0			11											80	57	65					11																	124294209		2201	4299	6500	123799419	SO:0001589	frameshift_variant	283162			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.559delT	11.37:g.124294209delA	ENSP00000348449:p.Ser187fs		123799419	B2RNF8|Q6IFQ7	Frame_Shift_Del	DEL	ENST00000356130.3	37	CCDS31710.1																																																																																				0.498	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		-	124294209	A	-	124294209	7	5	336	1	0	1	0	1	0	0	0	0	11229	304	11	0	372	0	OR8B4	11	124294209	Frame_Shift_Del	DEL	A	TCGA-29-1710-01A-02W-0633-09	58035366	124294209	10712307	24	18007											
ANO2	57101	genome.wustl.edu	37	12	5708776	5708776	+	Nonsense_Mutation	SNP	G	G	A	rs368566641		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr12:5708776G>A	ENST00000356134.5	-	22	2181	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	ANO2_ENST00000327087.8_Nonsense_Mutation_p.R703*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.R704*	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	708					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R704*(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCAGCTTTCGAAATAGTTTC	0.428																																																1	Substitution - Nonsense(1)	ovary(1)	12						G	stop/ARG	0,4014		0,0,2007	104	99	101		2107	5.9	1	12		101	1,8357		0,1,4178	no	stop-gained	ANO2	NM_020373.2		0,1,6185	AA,AG,GG		0.012,0.0,0.0081		703/999	5708776	1,12371	2007	4179	6186	5579037	SO:0001587	stop_gained	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2110C>T	12.37:g.5708776G>A	ENSP00000348453:p.Arg704*		5579037	C4N787|Q9H847	Nonsense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	G	40	8.262735	0.98732	0.0	1.2E-4	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	.	.	.	5.9	5.9	0.94986	.	0.067886	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6796	0.56914	0.0:0.0:0.8353:0.1647	.	.	.	.	X	703;704;704;708	.	ENSP00000314048:R703X	R	-	1	2	ANO2	5579037	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.158000	0.42329	2.793000	0.96121	0.563000	0.77884	CGA		0.428	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		A	5708776	G	A	5708776	4	1	336	1	0	0	0	0	0	1	0	0	697	1066	37	1	913	1	ANO2	12	5708776	Nonsense_Mutation	SNP	G	TCGA-29-1710-01A-02W-0633-09		5708776	128143119	25	18008											
TROAP	10024	genome.wustl.edu	37	12	49725140	49725140	+	Missense_Mutation	SNP	C	C	T	rs530742403		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr12:49725140C>T	ENST00000257909.3	+	14	2318	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	TROAP_ENST00000551245.1_Missense_Mutation_p.R838W|TROAP_ENST00000547923.1_Missense_Mutation_p.R427W	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	748					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGGCCCCACCCGGGTCTGCAC	0.602											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		18897	0		0	False		,,,				2504	0.001															0			12											53	50	51					12																	49725140		2203	4300	6503	48011407	SO:0001583	missense	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2242C>T	12.37:g.49725140C>T	ENSP00000257909:p.Arg748Trp	964	48011407	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839888	0.71488	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.93	-3.71	0.04424	.	0.000000	0.53938	D	0.000058	T	0.58221	0.2107	L	0.47190	1.495	0.21184	N	0.999761	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.62553	-0.6830	9	0.87932	D	0	-20.8276	17.5005	0.87730	0.7104:0.2896:0.0:0.0	.	838;427;748	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	W	838;748;427	.	ENSP00000257909:R748W	R	+	1	2	TROAP	48011407	0.093000	0.21703	0.013000	0.15412	0.967000	0.64934	0.189000	0.17037	-0.439000	0.07222	0.561000	0.74099	CGG		0.602	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		T	49725140	C	T	49725140	3	4	336	1	0	0	0	0	1	0	0	0	16575	643	23	1	2394	1	TROAP	12	49725140	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09	44016364	49725140	84126755	26	18009											
KIAA0564	23078	genome.wustl.edu	37	13	42407562	42407562	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr13:42407562C>A	ENST00000379310.3	-	13	1599	c.1531G>T	c.(1531-1533)Gtc>Ttc	p.V511F	VWA8_ENST00000281496.6_Missense_Mutation_p.V511F	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	511						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCCAGCAGGACCAGCTTGCCT	0.552																																																0			13											80	66	71					13																	42407562		2203	4300	6503	41305562	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1531G>T	13.37:g.42407562C>A	ENSP00000368612:p.Val511Phe		41305562	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165164	0.78339	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.41758	0.99;0.99	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.136445	0.49916	D	0.000124	T	0.55130	0.1901	M	0.67569	2.06	0.54753	D	0.999989	P	0.37276	0.589	P	0.45794	0.493	T	0.57236	-0.7846	10	0.66056	D	0.02	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	511	A3KMH1	K0564_HUMAN	F	415;511;511	ENSP00000368612:V511F;ENSP00000281496:V511F	ENSP00000251030:V415F	V	-	1	0	KIAA0564	41305562	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	4.868000	0.63021	2.715000	0.92844	0.655000	0.94253	GTC		0.552	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		A	42407562	C	A	42407562	3	1	336	1	0	0	0	0	1	0	0	0	8185	507	18	3	4322	3	KIAA0564	13	42407562	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09		42407562	72762316	27	18010											
UBAC2	337867	genome.wustl.edu	37	13	100020095	100020095	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr13:100020095G>A	ENST00000403766.3	+	8	997	c.862G>A	c.(862-864)Gta>Ata	p.V288I	UBAC2_ENST00000376440.2_Missense_Mutation_p.V253I|UBAC2_ENST00000460562.1_3'UTR	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	288					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V253I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCGACAAAACGTAAACTATCA	0.443																																																1	Substitution - Missense(1)	large_intestine(1)	13											106	99	101					13																	100020095		2203	4300	6503	98818096	SO:0001583	missense	337867			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"phosphoglycerate dehydrogenase like 1"	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.862G>A	13.37:g.100020095G>A	ENSP00000383911:p.Val288Ile		98818096	B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	ENST00000403766.3	37	CCDS45064.1	.	.	.	.	.	.	.	.	.	.	G	0.749	-0.773579	0.02951	.	.	ENSG00000134882	ENST00000403766;ENST00000355700;ENST00000376440	.	.	.	5.43	-4.56	0.03431	UBA-like (1);	0.991212	0.08211	N	0.980669	T	0.17619	0.0423	N	0.03115	-0.41	0.09310	N	1	B;B;B;B	0.18013	0.0;0.025;0.0;0.0	B;B;B;B	0.09377	0.0;0.004;0.0;0.0	T	0.32134	-0.9918	8	.	.	.	-1.6505	12.3455	0.55118	0.4107:0.0:0.5893:0.0	.	218;253;288;288	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	I	288;154;253	.	.	V	+	1	0	UBAC2	98818096	0.017000	0.18338	0.011000	0.14972	0.045000	0.14185	0.016000	0.13377	-0.795000	0.04462	-2.227000	0.00293	GTA		0.443	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		A	100020095	G	A	100020095	3	1	336	1	0	0	0	0	1	0	0	0	16835	1145	40	1	1052	1	UBAC2	13	100020095	Missense_Mutation	SNP	G	TCGA-29-1710-01A-02W-0633-09	57612533	100020095	15149783	28	18011											
SIX4	51804	genome.wustl.edu	37	14	61190563	61190565	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	GCC	GCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr14:61190563_61190565delGCC	ENST00000216513.4	-	1	287_289	c.228_230delGGC	c.(226-231)gcggcc>gcc	p.76_77AA>A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	76	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		cgccgctccggccgccgccgccg	0.764																																																0			14								12,27,1747		1,0,10,8,11,863						0.9	0.9			3	49,4,3681		6,0,37,1,2,1821	no	codingComplex	SIX4	NM_017420.4		7,0,47,9,13,2684	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4194,2.1837,1.6667				61,31,5428				60260318	SO:0001651	inframe_deletion	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.228_230delGGC	14.37:g.61190572_61190574delGCC	ENSP00000216513:p.Ala77del		60260316	Q4QQH5|Q4V764	In_Frame_Del	DEL	ENST00000216513.4	37	CCDS9749.2																																																																																				0.764	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			-	61190565	GCC	-	61190563	7	5	336	1	0	1	0	1	0	0	0	0	14352	1203	42	0	2127	0	SIX4	14	61190563	In_Frame_Del	DEL	GCC	TCGA-29-1710-01A-02W-0633-09		61190563	46158977	29	18012											
MGA	23269	genome.wustl.edu	37	15	42059416	42059438	+	Frame_Shift_Del	DEL	TTGGCACCTGTTGTGGCTAAATT	TTGGCACCTGTTGTGGCTAAATT	-	rs534951059|rs372873353	byFrequency	TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	TTGGCACCTGTTGTGGCTAAATT	TTGGCACCTGTTGTGGCTAAATT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr15:42059416_42059438delTTGGCACCTGTTGTGGCTAAATT	ENST00000570161.1	+	23	9136_9158	c.9136_9158delTTGGCACCTGTTGTGGCTAAATT	c.(9136-9159)ttggcacctgttgtggctaaattgfs	p.LAPVVAKL3046fs	MGA_ENST00000566586.1_Frame_Shift_Del_p.LAPVVAKL2837fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.LAPVVAKL2837fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.LAPVVAKL3046fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.LAPVVAKL3007fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGCCTACATTGGCACCTGTTGTGGCTAAATTGGGCAACTCG	0.493																																																0			15																																								39846730	SO:0001589	frameshift_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.9136_9158delTTGGCACCTGTTGTGGCTAAATT	15.37:g.42059416_42059438delTTGGCACCTGTTGTGGCTAAATT	ENSP00000457035:p.Leu3046fs		39846708	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	CCDS55959.1																																																																																				0.493	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		-	42059438	TTGGCACCTGTTGTGGCTAAATT	-	42059416	7	5	336	1	0	1	0	1	0	0	0	0	9540	1490	52	0	9226	0	MGA	15	42059416	Frame_Shift_Del	DEL	TTGGCACCTGTTGTGGCTAAATT	TCGA-29-1710-01A-02W-0633-09		42059416	60471976	30	18013											
DMXL2	23312	genome.wustl.edu	37	15	51742416	51742416	+	Silent	SNP	C	C	T	rs147864837	byFrequency	TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr15:51742416C>T	ENST00000251076.5	-	42	9098	c.8811G>A	c.(8809-8811)acG>acA	p.T2937T	DMXL2_ENST00000543779.2_Silent_p.T2938T|DMXL2_ENST00000449909.3_Silent_p.T2301T|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2937						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGGCCTGGAACGTGTGAATGA	0.488																																																0			15											141	123	129					15																	51742416		2196	4293	6489	49529708	SO:0001819	synonymous_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8811G>A	15.37:g.51742416C>T			49529708	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																				0.488	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51742416	C	T	51742416	2	4	336	1	0	0	0	0	0	0	0	1	4595	523	19	1		1	DMXL2	15	51742416	Silent	SNP	C	TCGA-29-1710-01A-02W-0633-09	9683000	51742416	50788976	31	18014											
RPL3L	6123	genome.wustl.edu	37	16	2002994	2002994	+	Silent	SNP	C	C	T	rs377420235		TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr16:2002994C>T	ENST00000268661.7	-	3	340	c.246G>A	c.(244-246)ccG>ccA	p.P82P	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	82					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCACTAGGGGCGGCGTTTCTA	0.602																																																0			16						C		0,4398		0,0,2199	62	56	58		246	-7	0.1	16		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RPL3L	NM_005061.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		82/408	2002994	1,12997	2199	4300	6499	1942995	SO:0001819	synonymous_variant	6123			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.246G>A	16.37:g.2002994C>T			1942995		Silent	SNP	ENST00000268661.7	37	CCDS10450.1																																																																																				0.602	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		T	2002994	C	T	2002994	2	4	336	1	0	0	0	0	0	0	0	1	13597	755	27	1		1	RPL3L	16	2002994	Silent	SNP	C	TCGA-29-1710-01A-02W-0633-09		2002994	88351759	32	18015											
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	336	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-29-1710-01A-02W-0633-09		7578265	73616945	33	18016											
MYH8	4626	genome.wustl.edu	37	17	10323456	10323456	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr17:10323456T>G	ENST00000403437.2	-	3	183	c.89A>C	c.(88-90)cAa>cCa	p.Q30P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	30					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGCTTGTTTTGGGCCTCAAT	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0			17											203	193	196					17																	10323456		2203	4300	6503	10264181	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.89A>C	17.37:g.10323456T>G	ENSP00000384330:p.Gln30Pro		10264181	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900724	0.72754	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86097	-2.07	4.59	4.59	0.56863	.	0.000000	0.39985	U	0.001207	D	0.89483	0.6728	L	0.56769	1.78	0.54753	D	0.999985	P	0.49253	0.921	P	0.61070	0.883	D	0.90681	0.4605	10	0.87932	D	0	.	14.1313	0.65255	0.0:0.0:0.0:1.0	.	30	P13535	MYH8_HUMAN	P	30	ENSP00000384330:Q30P	ENSP00000252173:Q30P	Q	-	2	0	MYH8	10264181	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.870000	0.63035	1.939000	0.56221	0.383000	0.25322	CAA		0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		G	10323456	T	G	10323456	3	3	336	1	0	0	0	0	1	0	0	0	10041	1812	63	5	5876	5	MYH8	17	10323456	Missense_Mutation	SNP	T	TCGA-29-1710-01A-02W-0633-09	2745191	10323456	70871754	34	18017											
ILF3	3609	genome.wustl.edu	37	19	10798362	10798362	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr19:10798362C>A	ENST00000590261.1	+	17	2400	c.2400C>A	c.(2398-2400)gaC>gaA	p.D800E	ILF3_ENST00000588657.1_Missense_Mutation_p.D804E|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000318511.3_Missense_Mutation_p.D800E|ILF3_ENST00000449870.1_Missense_Mutation_p.D804E			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	800	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCGGATCCGACTACAACTACG	0.617																																																0			19											33	39	37					19																	10798362		2203	4300	6503	10659362	SO:0001583	missense	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2400C>A	19.37:g.10798362C>A	ENSP00000468156:p.Asp800Glu		10659362	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495026	0.44352	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.15256	2.44;2.44	5.15	4.1	0.47936	.	0.354533	0.29133	N	0.013053	T	0.10508	0.0257	N	0.12182	0.205	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.09552	-1.0669	10	0.40728	T	0.16	.	12.9378	0.58325	0.0:0.8366:0.1634:0.0	.	804;800	G5E9M5;Q12906	.;ILF3_HUMAN	E	804;800	ENSP00000404121:D804E;ENSP00000315205:D800E	ENSP00000315205:D800E	D	+	3	2	ILF3	10659362	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.837000	0.39201	1.379000	0.46325	0.655000	0.94253	GAC		0.617	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			A	10798362	C	A	10798362	3	1	336	1	0	0	0	0	1	0	0	0	7712	564	20	3	2550	3	ILF3	19	10798362	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09		10798362	48330621	35	18018											
DOCK6	57572	genome.wustl.edu	37	19	11354520	11354520	+	Silent	SNP	G	G	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr19:11354520G>A	ENST00000294618.7	-	10	1073	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	354					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AAGGCTCACAGCACTCACTGA	0.572											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											88	88	88					19																	11354520		2132	4235	6367	11215520	SO:0001819	synonymous_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1062C>T	19.37:g.11354520G>A		671	11215520	A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	CCDS45975.1																																																																																				0.572	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11354520	G	A	11354520	2	1	336	1	0	0	0	0	0	0	0	1	4691	963	34	2		2	DOCK6	19	11354520	Silent	SNP	G	TCGA-29-1710-01A-02W-0633-09	556158	11354520	47774463	36	18019											
RINL	126432	genome.wustl.edu	37	19	39362475	39362475	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr19:39362475C>T	ENST00000591812.1	-	5	435	c.349G>A	c.(349-351)Gac>Aac	p.D117N	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.D3N|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.D3N			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	117					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TGGGGCAGGTCTGGCATGCAG	0.567																																																0			19											78	78	78					19																	39362475		2203	4300	6503	44054315	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.349G>A	19.37:g.39362475C>T	ENSP00000467107:p.Asp117Asn		44054315	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261472	0.80358	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.53857	0.6	4.91	3.88	0.44766	.	0.201110	0.41500	D	0.000868	T	0.50137	0.1598	L	0.29908	0.895	0.25367	N	0.988733	D;D	0.60160	0.987;0.987	P;P	0.54544	0.755;0.755	T	0.41734	-0.9492	10	0.87932	D	0	-22.8084	8.5929	0.33699	0.0:0.8964:0.0:0.1036	.	117;3	B4DPG5;Q6ZS11	.;RINL_HUMAN	N	3	ENSP00000340369:D3N	ENSP00000340369:D3N	D	-	1	0	RINL	44054315	0.947000	0.32204	0.870000	0.34147	0.955000	0.61496	3.273000	0.51623	1.294000	0.44707	0.491000	0.48974	GAC		0.567	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		T	39362475	C	T	39362475	3	4	336	1	0	0	0	0	1	0	0	0	13378	913	32	2	1383	2	RINL	19	39362475	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09	28007955	39362475	19766508	37	18020											
ZNF613	79898	genome.wustl.edu	37	19	52448711	52448711	+	Silent	SNP	A	A	G			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chr19:52448711A>G	ENST00000293471.6	+	6	2254	c.1575A>G	c.(1573-1575)tcA>tcG	p.S525S	ZNF613_ENST00000391794.4_Silent_p.S489S|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CCCACTTGTCATGCCTTGTTT	0.423																																																0			19											112	85	95					19																	52448711		2203	4300	6503	57140523	SO:0001819	synonymous_variant	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1575A>G	19.37:g.52448711A>G			57140523	Q96SS9	Silent	SNP	ENST00000293471.6	37	CCDS33089.1																																																																																				0.423	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		G	52448711	A	G	52448711	2	3	336	1	0	0	0	0	0	0	0	1	18038	204	8	4		4	ZNF613	19	52448711	Silent	SNP	A	TCGA-29-1710-01A-02W-0633-09	13086236	52448711	6680272	38	18021											
ARSF	416	genome.wustl.edu	37	X	3030320	3030320	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1710-01A-02W-0633-09	TCGA-29-1710-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	be957b7d-5bc0-4e26-8219-b8082b200f93	6b10bb23-a9a0-4021-a0d4-e05f0ed727ba	g.chrX:3030320C>A	ENST00000381127.1	+	11	1717	c.1496C>A	c.(1495-1497)aCc>aAc	p.T499N	ARSF_ENST00000359361.2_Missense_Mutation_p.T499N|ARSF_ENST00000537104.1_Missense_Mutation_p.T499N	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	499					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACAGGTTACCTACCACAAC	0.532																																																0			X											120	110	114					X																	3030320		2203	4300	6503	3040320	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1496C>A	X.37:g.3030320C>A	ENSP00000370519:p.Thr499Asn		3040320	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	C	9.911	1.209646	0.22289	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.90620	-2.7;-2.7;-2.7	3.0	2.08	0.27032	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.185767	0.45606	U	0.000351	D	0.85353	0.5677	L	0.45228	1.405	0.36460	D	0.866648	B	0.21905	0.062	B	0.27076	0.076	T	0.82669	-0.0343	10	0.31617	T	0.26	.	10.2605	0.43423	0.0:0.8839:0.0:0.1161	.	499	P54793	ARSF_HUMAN	N	499	ENSP00000370519:T499N;ENSP00000445594:T499N;ENSP00000352319:T499N	ENSP00000352319:T499N	T	+	2	0	ARSF	3040320	0.107000	0.21998	0.003000	0.11579	0.002000	0.02628	1.576000	0.36504	1.281000	0.44480	0.411000	0.27672	ACC		0.532	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			A	3030320	C	A	3030320	3	1	336	1	0	0	0	0	1	0	0	0	991	507	18	3	1534	3	ARSF	23	3030320	Missense_Mutation	SNP	C	TCGA-29-1710-01A-02W-0633-09		3030320	152240240	39	18022											
CNR2	1269	genome.wustl.edu	37	1	24201496	24201519	+	In_Frame_Del	DEL	TCCGGAAAAGAGGAAGGCGATGAA	TCCGGAAAAGAGGAAGGCGATGAA	-	rs201054712|rs371817276|rs567693532|rs142861964|rs201354527	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	TCCGGAAAAGAGGAAGGCGATGAA	TCCGGAAAAGAGGAAGGCGATGAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr1:24201496_24201519delTCCGGAAAAGAGGAAGGCGATGAA	ENST00000374472.4	-	2	750_773	c.589_612delTTCATCGCCTTCCTCTTTTCCGGA	c.(589-612)ttcatcgccttcctcttttccggadel	p.FIAFLFSG197del	CNR2_ENST00000536471.1_In_Frame_Del_p.FIAFLFSG197del	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	197					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.A199T(2)|p.G204*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TGTAGATGATTCCGGAAAAGAGGAAGGCGATGAACAGGAGCCAG	0.571																																																4	Substitution - Nonsense(2)|Substitution - Missense(2)	lung(2)|endometrium(2)	1																																								24074106	SO:0001651	inframe_deletion	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.589_612delTTCATCGCCTTCCTCTTTTCCGGA	1.37:g.24201496_24201519delTCCGGAAAAGAGGAAGGCGATGAA	ENSP00000363596:p.Phe197_Gly204del		24074083	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	In_Frame_Del	DEL	ENST00000374472.4	37	CCDS245.1																																																																																				0.571	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		-	24201519	TCCGGAAAAGAGGAAGGCGATGAA	-	24201496	7	5	337	1	0	1	0	1	0	0	0	0	3632	1770	62	0	474	0	CNR2	1	24201496	In_Frame_Del	DEL	TCCGGAAAAGAGGAAGGCGATGAA	TCGA-29-1711-01A-01W-0633-09		24201496	225049125	1	18023											
FCGR1A	2209	genome.wustl.edu	37	1	149762918	149762918	+	Missense_Mutation	SNP	G	G	C	rs202141131	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr1:149762918G>C	ENST00000369168.4	+	6	1024	c.970G>C	c.(970-972)Gat>Cat	p.D324H	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	324	Interaction with EPB41L2.			D -> N (in Ref. 4; AAA58414). {ECO:0000305}.	antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAAAAGTGGGATTTAGAAAT	0.368																																																0			1											84	95	92					1																	149762918		2106	4246	6352	148029542	SO:0001583	missense	2209			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3613	protein-coding gene	gene with protein product		146760	"Fc fragment of IgG, high affinity Ia, receptor for (CD64)"			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.970G>C	1.37:g.149762918G>C	ENSP00000358165:p.Asp324His		148029542	P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	CCDS933.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.342425	0.24339	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.02737	4.48;4.18	4.0	-1.65	0.08291	.	4.906860	0.00465	N	0.000101	T	0.00845	0.0028	N	0.19112	0.55	0.18873	N	0.999983	B	0.23540	0.087	B	0.28465	0.09	T	0.48958	-0.8988	10	0.87932	D	0	.	5.2105	0.15314	0.4076:0.1733:0.419:0.0	.	324	P12314	FCGR1_HUMAN	H	232;324	ENSP00000394279:D232H;ENSP00000358165:D324H	ENSP00000358165:D324H	D	+	1	0	FCGR1A	148029542	0.007000	0.16637	0.014000	0.15608	0.818000	0.46254	0.009000	0.13219	-0.360000	0.08138	-0.408000	0.06270	GAT		0.368	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		C	149762918	G	C	149762918	3	2	337	1	0	0	0	0	1	0	0	0	5779	1174	41	3	992	3	FCGR1A	1	149762918	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	125561422	149762918	99487703	2	18024											
PGLYRP3	114771	genome.wustl.edu	37	1	153283098	153283098	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr1:153283098A>G	ENST00000290722.1	-	1	96	c.44T>C	c.(43-45)cTc>cCc	p.L15P		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	15					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAGCCTGGAGACCCAGAAT	0.502																																																0			1											157	158	157					1																	153283098		2203	4300	6503	151549722	SO:0001583	missense	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.44T>C	1.37:g.153283098A>G	ENSP00000290722:p.Leu15Pro		151549722	A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572612	0.28092	.	.	ENSG00000159527	ENST00000290722	T	0.07216	3.21	3.22	-0.57	0.11753	.	1.256210	0.05946	N	0.637926	T	0.07188	0.0182	L	0.60455	1.87	0.09310	N	0.999999	D	0.64830	0.994	P	0.60789	0.879	T	0.15378	-1.0439	10	0.40728	T	0.16	1.9953	2.6753	0.05079	0.4683:0.0:0.1213:0.4104	.	15	Q96LB9	PGRP3_HUMAN	P	15	ENSP00000290722:L15P	ENSP00000290722:L15P	L	-	2	0	PGLYRP3	151549722	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.220000	0.32491	-0.135000	0.11495	-0.327000	0.08410	CTC		0.502	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		G	153283098	A	G	153283098	3	3	337	1	0	0	0	0	1	0	0	0	11795	304	11	4	1009	4	PGLYRP3	1	153283098	Missense_Mutation	SNP	A	TCGA-29-1711-01A-01W-0633-09	3520180	153283098	95967523	3	18025											
SMC6	79677	genome.wustl.edu	37	2	17889969	17889969	+	Silent	SNP	A	A	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:17889969A>G	ENST00000448223.2	-	17	2051	c.1782T>C	c.(1780-1782)gaT>gaC	p.D594D	SMC6_ENST00000351948.4_Silent_p.D594D|SMC6_ENST00000402989.1_Silent_p.D594D|SMC6_ENST00000381272.4_Silent_p.D620D	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	594	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAACCGCATTATCTATTTCTA	0.353																																																0			2											93	91	92					2																	17889969		2203	4300	6503	17753450	SO:0001819	synonymous_variant	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1782T>C	2.37:g.17889969A>G			17753450	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	CCDS1690.1																																																																																				0.353	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		G	17889969	A	G	17889969	2	3	337	1	0	0	0	0	0	0	0	1	14790	446	16	4		4	SMC6	2	17889969	Silent	SNP	A	TCGA-29-1711-01A-01W-0633-09		17889969	225309404	4	18026											
RASGRP3	25780	genome.wustl.edu	37	2	33783899	33783899	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:33783899G>C	ENST00000403687.3	+	17	2606	c.1866G>C	c.(1864-1866)gaG>gaC	p.E622D	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Missense_Mutation_p.E621D|RASGRP3_ENST00000402538.3_Missense_Mutation_p.E622D	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	622					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TCTGGTCAGAGGCTGGCTGGG	0.547																																																0			2											57	58	58					2																	33783899		1864	4110	5974	33637403	SO:0001583	missense	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1866G>C	2.37:g.33783899G>C	ENSP00000384192:p.Glu622Asp		33637403	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336151	0.24253	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.78246	-1.16;-1.16;-1.16	5.59	1.85	0.25348	.	0.056133	0.64402	D	0.000002	T	0.51058	0.1652	N	0.08118	0	0.36122	D	0.845539	B;B	0.14012	0.009;0.009	B;B	0.10450	0.005;0.005	T	0.30592	-0.9973	10	0.13853	T	0.58	-18.986	5.5568	0.17121	0.2691:0.0:0.605:0.1259	.	621;622	D6W583;Q8IV61	.;GRP3_HUMAN	D	622;622;621	ENSP00000385886:E622D;ENSP00000384192:E622D;ENSP00000383917:E621D	ENSP00000385886:E622D	E	+	3	2	RASGRP3	33637403	0.994000	0.37717	0.998000	0.56505	0.983000	0.72400	0.256000	0.18351	0.060000	0.16281	-0.157000	0.13467	GAG		0.547	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		C	33783899	G	C	33783899	3	2	337	1	0	0	0	0	1	0	0	0	13079	991	35	3	1924	3	RASGRP3	2	33783899	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	15893930	33783899	209415474	5	18027											
EXOC6B	23233	genome.wustl.edu	37	2	72968579	72968579	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:72968579C>G	ENST00000272427.6	-	2	263	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	EXOC6B_ENST00000410104.1_Missense_Mutation_p.E45Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	45					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CGTCCATGTTCTTCACCATCA	0.363																																																0			2											95	89	91					2																	72968579		1828	4078	5906	72822087	SO:0001583	missense	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.133G>C	2.37:g.72968579C>G	ENSP00000272427:p.Glu45Gln		72822087	B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539818	0.65085	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.30448	1.53;1.53	5.15	5.15	0.70609	.	0.058083	0.64402	D	0.000003	T	0.27454	0.0674	L	0.45581	1.43	0.58432	D	0.999999	P;B	0.41673	0.759;0.053	B;B	0.37833	0.259;0.061	T	0.04811	-1.0925	10	0.13108	T	0.6	.	17.2198	0.86954	0.0:1.0:0.0:0.0	.	45;45	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	Q	45	ENSP00000272427:E45Q;ENSP00000386698:E45Q	ENSP00000272427:E45Q	E	-	1	0	EXOC6B	72822087	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.729000	0.84864	2.389000	0.81357	0.561000	0.74099	GAA		0.363	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		G	72968579	C	G	72968579	3	3	337	1	0	0	0	0	1	0	0	0	5309	922	32	3	2386	3	EXOC6B	2	72968579	Missense_Mutation	SNP	C	TCGA-29-1711-01A-01W-0633-09	39184680	72968579	170230794	6	18028											
C2orf29	55571	genome.wustl.edu	37	2	101881465	101881465	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:101881465G>T	ENST00000289382.3	+	4	1154	c.991G>T	c.(991-993)Gcc>Tcc	p.A331S		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	331					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											ACGAATAATGGCCAAAGCCTT	0.398																																																0			2											107	101	103					2																	101881465		2203	4300	6503	101247897	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.991G>T	2.37:g.101881465G>T	ENSP00000289382:p.Ala331Ser		101247897	Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.62|14.62	2.590351|2.590351	0.46214|0.46214	.|.	.|.	ENSG00000158435|ENSG00000158435	ENST00000289382|ENST00000420107	.|.	.|.	.|.	5.97|5.97	5.1|5.1	0.69264|0.69264	.|.	0.155351|.	0.56097|.	D|.	0.000026|.	T|T	0.53400|0.53400	0.1794|0.1794	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|.	0.22146|.	0.065|.	B|.	0.14023|.	0.01|.	T|T	0.49943|0.49943	-0.8885|-0.8885	9|5	0.21014|.	T|.	0.42|.	-19.674|-19.674	15.1719|15.1719	0.72881|0.72881	0.0674:0.0:0.9326:0.0|0.0674:0.0:0.9326:0.0	.|.	331|.	Q9UKZ1|.	CB029_HUMAN|.	S|V	331|10	.|.	ENSP00000289382:A331S|.	A|G	+|+	1|2	0|0	C2orf29|C2orf29	101247897|101247897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.250000|4.250000	0.58772|0.58772	1.546000|1.546000	0.49388|0.49388	-0.136000|-0.136000	0.14681|0.14681	GCC|GGC		0.398	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		T	101881465	G	T	101881465	3	4	337	1	0	0	0	0	1	0	0	0	2161	1203	42	3	1005	3	C2orf29	2	101881465	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	28912886	101881465	141317908	7	18029											
RGPD4	285190	genome.wustl.edu	37	2	108478071	108478071	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:108478071G>A	ENST00000408999.3	+	15	2157	c.2080G>A	c.(2080-2082)Gac>Aac	p.D694N	RGPD4_ENST00000354986.4_Missense_Mutation_p.D694N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	694					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAAGGCAGAAGACATTGCAAA	0.358																																																0			2											78	62	67					2																	108478071		692	1591	2283	107844503	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2080G>A	2.37:g.108478071G>A	ENSP00000386810:p.Asp694Asn		107844503	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	12.36	1.914088	0.33815	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.31247	1.5;1.5	2.6	2.6	0.31112	.	.	.	.	.	T	0.31231	0.0790	L	0.57536	1.79	0.31469	N	0.668578	B	0.31893	0.345	B	0.32289	0.143	T	0.44283	-0.9338	9	0.66056	D	0.02	-6.8146	11.8656	0.52490	0.0:0.0:1.0:0.0	.	694	Q7Z3J3	RGPD4_HUMAN	N	694;694;452	ENSP00000347081:D694N;ENSP00000386810:D694N	ENSP00000347081:D694N	D	+	1	0	RGPD4	107844503	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	7.184000	0.77705	1.299000	0.44798	0.152000	0.16155	GAC		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		A	108478071	G	A	108478071	3	1	337	1	0	0	0	0	1	0	0	0	13291	942	33	2	2138	2	RGPD4	2	108478071	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	6596606	108478071	134721302	8	18030											
SLC5A7	60482	genome.wustl.edu	37	2	108625091	108625091	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:108625091A>C	ENST00000264047.2	+	8	1342	c.1066A>C	c.(1066-1068)Agt>Cgt	p.S356R	SLC5A7_ENST00000409059.1_Missense_Mutation_p.S356R|SLC5A7_ENST00000540517.1_Missense_Mutation_p.S251R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	356					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTTGTCAGCAAGTTCCATGTT	0.418																																																0			2											154	132	139					2																	108625091		2203	4300	6503	107991523	SO:0001583	missense	60482			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1066A>C	2.37:g.108625091A>C	ENSP00000264047:p.Ser356Arg		107991523	Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448861	0.84101	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.92699	-3.09;-3.09;-3.09	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.97124	0.9813	10	0.87932	D	0	-20.7126	15.938	0.79729	1.0:0.0:0.0:0.0	.	356	Q9GZV3	SC5A7_HUMAN	R	356;251;356	ENSP00000387346:S356R;ENSP00000445351:S251R;ENSP00000264047:S356R	ENSP00000264047:S356R	S	+	1	0	SLC5A7	107991523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.277000	0.78572	2.222000	0.72286	0.533000	0.62120	AGT		0.418	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			C	108625091	A	C	108625091	3	2	337	1	0	0	0	0	1	0	0	0	14673	72	3	5	1092	5	SLC5A7	2	108625091	Missense_Mutation	SNP	A	TCGA-29-1711-01A-01W-0633-09	147020	108625091	134574282	9	18031											
TTN	7273	genome.wustl.edu	37	2	179643698	179643698	+	Missense_Mutation	SNP	C	C	T	rs267599091		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr2:179643698C>T	ENST00000591111.1	-	24	4335	c.4111G>A	c.(4111-4113)Gga>Aga	p.G1371R	TTN_ENST00000359218.5_Missense_Mutation_p.G1325R|TTN_ENST00000360870.5_Missense_Mutation_p.G1371R|TTN_ENST00000342175.6_Missense_Mutation_p.G1325R|TTN_ENST00000460472.2_Missense_Mutation_p.G1325R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G1371R|TTN_ENST00000342992.6_Missense_Mutation_p.G1371R			Q8WZ42	TITIN_HUMAN	titin	33567	Ig-like 5.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGCATTTCCTTTAATATTG	0.453																																																0			2											111	100	104					2																	179643698		2203	4300	6503	179351943	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4111G>A	2.37:g.179643698C>T	ENSP00000465570:p.Gly1371Arg		179351943	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.18	3.324843	0.60634	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90834	0.7121	H	0.94658	3.565	0.49389	D	0.999787	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92408	0.5935	9	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	1325;1325;1325;1371;1371	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	1371;1325;1325;1325;1325;1371	ENSP00000343764:G1371R;ENSP00000434586:G1325R;ENSP00000340554:G1325R;ENSP00000352154:G1325R;ENSP00000354117:G1371R	ENSP00000340554:G1325R	G	-	1	0	TTN	179351943	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.935000	0.70145	2.813000	0.96785	0.655000	0.94253	GGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179643698	C	T	179643698	3	4	337	1	0	0	0	0	1	0	0	0	16735	690	24	2	107233	2	TTN	2	179643698	Missense_Mutation	SNP	C	TCGA-29-1711-01A-01W-0633-09	71018607	179643698	63555675	10	18032											
ATG7	10533	genome.wustl.edu	37	3	11340845	11340845	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr3:11340845C>T	ENST00000354449.3	+	3	195	c.170C>T	c.(169-171)gCt>gTt	p.A57V	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Missense_Mutation_p.A57V|ATG7_ENST00000354956.5_Missense_Mutation_p.A57V	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	57					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGTGACTCTGCTGGGCTGCCA	0.368																																																0			3											144	137	140					3																	11340845		2203	4300	6503	11315845	SO:0001583	missense	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.170C>T	3.37:g.11340845C>T	ENSP00000346437:p.Ala57Val		11315845	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275377	0.40194	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	6.07	4.29	0.51040	.	0.344739	0.31427	N	0.007661	T	0.21468	0.0517	N	0.10664	0.02	0.29757	N	0.835848	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.13495	-1.0507	10	0.21540	T	0.41	-9.0706	10.0912	0.42447	0.0:0.8457:0.0:0.1543	.	57;57;57	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	V	57	ENSP00000415223:A57V;ENSP00000390547:A57V;ENSP00000411880:A57V;ENSP00000389996:A57V;ENSP00000412580:A57V;ENSP00000347042:A57V;ENSP00000346437:A57V;ENSP00000408303:A57V;ENSP00000416644:A57V	ENSP00000346437:A57V	A	+	2	0	ATG7	11315845	0.398000	0.25279	0.865000	0.33974	0.994000	0.84299	0.797000	0.26999	0.908000	0.36671	0.655000	0.94253	GCT		0.368	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		T	11340845	C	T	11340845	3	4	337	1	0	0	0	0	1	0	0	0	1101	797	28	2	176	2	ATG7	3	11340845	Missense_Mutation	SNP	C	TCGA-29-1711-01A-01W-0633-09		11340845	186681585	11	18033											
DNAH12	201625	genome.wustl.edu	37	3	57488057	57488057	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr3:57488057C>G	ENST00000351747.2	-	10	1416	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	DNAH12_ENST00000389536.4_Missense_Mutation_p.E412D|DNAH12_ENST00000311202.6_Missense_Mutation_p.E412D	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	412	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CACCATATGTCTCATAATGCT	0.398																																																0			3											258	224	236					3																	57488057		2203	4300	6503	57463097	SO:0001583	missense	375347			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1236G>C	3.37:g.57488057C>G	ENSP00000295937:p.Glu412Asp		57463097	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37		.	.	.	.	.	.	.	.	.	.	C	10.71	1.426887	0.25726	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.22743	2.08;1.94;3.57;3.04	5.34	2.34	0.29019	.	0.298609	0.31210	N	0.008050	T	0.10380	0.0254	L	0.28740	0.885	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.15484	0.013;0.001	T	0.16424	-1.0403	10	0.12766	T	0.61	.	1.5206	0.02514	0.2495:0.4241:0.1453:0.1811	.	412;412	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	D	412	ENSP00000295937:E412D;ENSP00000418137:E412D;ENSP00000374187:E412D;ENSP00000312554:E412D	ENSP00000312554:E412D	E	-	3	2	DNAH12	57463097	0.005000	0.15991	0.994000	0.49952	0.747000	0.42532	-0.076000	0.11412	0.705000	0.31890	0.655000	0.94253	GAG		0.398	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		G	57488057	C	G	57488057	3	3	337	1	0	0	0	0	1	0	0	0	4600	912	32	3	8285	3	DNAH12	3	57488057	Missense_Mutation	SNP	C	TCGA-29-1711-01A-01W-0633-09	46147212	57488057	140534373	12	18034											
CLRN1	7401	genome.wustl.edu	37	3	150690293	150690293	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr3:150690293C>T	ENST00000327047.1	-	1	493	c.203G>A	c.(202-204)gGa>gAa	p.G68E	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000465576.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.G68E	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	68					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACACCCTCTCCGTGGAAAAG	0.507																																																0			3											92	80	84					3																	150690293		2203	4300	6503	152172983	SO:0001583	missense	7401			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.203G>A	3.37:g.150690293C>T	ENSP00000322280:p.Gly68Glu		152172983	D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914583	0.92178	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	T;T	0.72282	-0.25;-0.64	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.84311	0.5444	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85563	0.1229	10	0.87932	D	0	0.1963	19.4011	0.94630	0.0:1.0:0.0:0.0	.	68	P58418	CLRN1_HUMAN	E	68	ENSP00000322280:G68E;ENSP00000329158:G68E	ENSP00000322280:G68E	G	-	2	0	CLRN1	152172983	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.323000	0.79105	2.588000	0.87417	0.561000	0.74099	GGA		0.507	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			T	150690293	C	T	150690293	3	4	337	1	0	0	0	0	1	0	0	0	3557	855	30	2	561	2	CLRN1	3	150690293	Missense_Mutation	SNP	C	TCGA-29-1711-01A-01W-0633-09	93202236	150690293	47332137	13	18035											
SLC2A2	6514	genome.wustl.edu	37	3	170715879	170715879	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr3:170715879G>A	ENST00000314251.3	-	11	1467	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	SLC2A2_ENST00000382808.4_Missense_Mutation_p.P344L	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	463					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	AAACACATAAGGTCCACAGAA	0.403																																																0			3											37	40	39					3																	170715879		2203	4300	6503	172198573	SO:0001583	missense	6514			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1388C>T	3.37:g.170715879G>A	ENSP00000323568:p.Pro463Leu		172198573	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128302	0.56721	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.73575	-0.76;-0.76	6.02	6.02	0.97574	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.193697	0.56097	D	0.000026	T	0.80623	0.4658	M	0.78637	2.42	0.80722	D	1	B	0.32302	0.363	B	0.38500	0.275	T	0.78615	-0.2135	10	0.51188	T	0.08	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	463	P11168	GTR2_HUMAN	L	463;344	ENSP00000323568:P463L;ENSP00000372258:P344L	ENSP00000323568:P463L	P	-	2	0	SLC2A2	172198573	1.000000	0.71417	0.995000	0.50966	0.019000	0.09904	3.619000	0.54196	2.865000	0.98341	0.655000	0.94253	CCT		0.403	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		A	170715879	G	A	170715879	3	1	337	1	0	0	0	0	1	0	0	0	14547	1000	35	2	190	2	SLC2A2	3	170715879	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	20025586	170715879	27306551	14	18036											
GABRA4	2557	genome.wustl.edu	37	4	46994893	46994893	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr4:46994893C>G	ENST00000264318.3	-	2	1139	c.157G>C	c.(157-159)Gac>Cac	p.D53H	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	53					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					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)	AGCAAACTGTCCAGGATGCGG	0.488																																					Ovarian(6;283 369 8234 12290 33402)											0			4											148	136	140					4																	46994893		2203	4300	6503	46689650	SO:0001583	missense	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.157G>C	4.37:g.46994893C>G	ENSP00000264318:p.Asp53His		46689650	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517019	0.44763	.	.	ENSG00000109158	ENST00000264318	T	0.79141	-1.24	5.46	5.46	0.80206	Neurotransmitter-gated ion-channel ligand-binding (3);	0.051920	0.85682	D	0.000000	D	0.89760	0.6808	M	0.89904	3.07	0.52099	D	0.99994	D	0.89917	1.0	D	0.77004	0.989	D	0.91547	0.5254	10	0.87932	D	0	.	14.7935	0.69860	0.0:1.0:0.0:0.0	.	53	P48169	GBRA4_HUMAN	H	53	ENSP00000264318:D53H	ENSP00000264318:D53H	D	-	1	0	GABRA4	46689650	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.509000	0.45459	2.561000	0.86390	0.460000	0.39030	GAC		0.488	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			G	46994893	C	G	46994893	3	3	337	1	0	0	0	0	1	0	0	0	6163	855	30	3	1539	3	GABRA4	4	46994893	Missense_Mutation	SNP	C	TCGA-29-1711-01A-01W-0633-09		46994893	144159383	15	18037											
KDR	3791	genome.wustl.edu	37	4	55961087	55961089	+	In_Frame_Del	DEL	GTA	GTA	-	rs201374419	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	GTA	GTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr4:55961087_55961089delGTA	ENST00000263923.4	-	21	3146_3148	c.2851_2853delTAC	c.(2851-2853)tacdel	p.Y951del	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	951	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGCTCCAACGTAGTCTTTCCCT	0.463			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4																																								55655846	SO:0001651	inframe_deletion	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2851_2853delTAC	4.37:g.55961087_55961089delGTA	ENSP00000263923:p.Tyr951del		55655844	A2RRS0|B5A925|C5IFA0|O60723|Q14178	In_Frame_Del	DEL	ENST00000263923.4	37	CCDS3497.1																																																																																				0.463	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			-	55961089	GTA	-	55961087	7	5	337	1	0	1	0	1	0	0	0	0	8139	1140	40	0	1257	0	KDR	4	55961087	In_Frame_Del	DEL	GTA	TCGA-29-1711-01A-01W-0633-09	8966194	55961087	135193189	16	18038											
GNRHR	2798	genome.wustl.edu	37	4	68619767	68619791	+	Frame_Shift_Del	DEL	GGCATGACAATCAGAGTCTCCAACA	GGCATGACAATCAGAGTCTCCAACA	-	rs200176056|rs374719194|rs104893844|rs367560743		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	GGCATGACAATCAGAGTCTCCAACA	GGCATGACAATCAGAGTCTCCAACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr4:68619767_68619791delGGCATGACAATCAGAGTCTCCAACA	ENST00000226413.4	-	1	287_311	c.263_287delTGTTGGAGACTCTGATTGTCATGCC	c.(262-288)ctgttggagactctgattgtcatgccafs	p.LLETLIVMP88fs	UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Frame_Shift_Del_p.LLETLIVMP88fs|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	88					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CCCATCCAGTGGCATGACAATCAGAGTCTCCAACAGGTTGGCTAA	0.431																																																0			4	GRCh37	CM011362|CM067675	GNRHR	M	rs104893844																																			68302386	SO:0001589	frameshift_variant	2798				CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.263_287delTGTTGGAGACTCTGATTGTCATGCC	4.37:g.68619767_68619791delGGCATGACAATCAGAGTCTCCAACA	ENSP00000226413:p.Leu88fs		68302362	O75793|Q14D13|Q92644	Frame_Shift_Del	DEL	ENST00000226413.4	37	CCDS3517.1																																																																																				0.431	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			-	68619791	GGCATGACAATCAGAGTCTCCAACA	-	68619767	7	5	337	1	0	1	0	1	0	0	0	0	6549	1348	47	0	711	0	GNRHR	4	68619767	Frame_Shift_Del	DEL	GGCATGACAATCAGAGTCTCCAACA	TCGA-29-1711-01A-01W-0633-09	12658680	68619767	122534509	17	18039											
MARCH1	55016	genome.wustl.edu	37	4	164534465	164534465	+	Splice_Site	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr4:164534465C>T	ENST00000503008.1	-	5	1219		c.e5+1		MARCH1_ENST00000339875.5_Splice_Site|MARCH1_ENST00000514618.1_Splice_Site|MARCH1_ENST00000274056.7_Splice_Site	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCAGCACTTACCTGCAGATGT	0.423																																																0			4											100	99	99					4																	164534465		2203	4300	6503	164753915	SO:0001630	splice_region_variant	55016			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.242+1G>A	4.37:g.164534465C>T			164753915	D3DP29|Q9NWR0	Splice_Site	SNP	ENST00000503008.1	37	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504098	0.64410	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MARCH1	164753915	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.673000	0.68109	2.871000	0.98454	0.655000	0.94253	.		0.423	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	Intron	T	164534465	C	T	164534465	5	4	337	1	0	0	0	0	0	0	1	0	9298	521	18	2	642	2	MARCH1	4	164534465	Splice_Site	SNP	C	TCGA-29-1711-01A-01W-0633-09	95914698	164534465	26619811	18	18040											
NOTCH4	4855	genome.wustl.edu	37	6	32180354	32180354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:32180354G>T	ENST00000375023.3	-	17	2715	c.2577C>A	c.(2575-2577)tgC>tgA	p.C859*	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	859	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGTCTGGAGGCAGTGGGAAT	0.612																																																0			6											152	127	136					6																	32180354		1510	2709	4219	32288332	SO:0001587	stop_gained	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2577C>A	6.37:g.32180354G>T	ENSP00000364163:p.Cys859*		32288332	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Nonsense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	40	8.214350	0.98709	.	.	ENSG00000204301	ENST00000375023	.	.	.	4.35	4.35	0.52113	.	0.000000	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7234	0.69326	0.0:0.0:1.0:0.0	.	.	.	.	X	859	.	ENSP00000364163:C859X	C	-	3	2	NOTCH4	32288332	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	5.225000	0.65294	2.421000	0.82119	0.561000	0.74099	TGC		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32180354	G	T	32180354	4	4	337	1	0	0	0	0	0	1	0	0	10551	1195	42	3	3490	3	NOTCH4	6	32180354	Nonsense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09		32180354	138934713	19	18041											
GPR116	221395	genome.wustl.edu	37	6	46824641	46824641	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:46824641A>G	ENST00000283296.7	-	18	4067	c.3779T>C	c.(3778-3780)tTa>tCa	p.L1260S	GPR116_ENST00000456426.2_Missense_Mutation_p.L1118S|GPR116_ENST00000545669.1_Missense_Mutation_p.L689S|GPR116_ENST00000362015.4_Missense_Mutation_p.L1260S|GPR116_ENST00000265417.7_Missense_Mutation_p.L1260S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1260					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TAAAATGAATAATCCCTGAGA	0.353																																					NSCLC(59;410 1274 8751 36715 50546)											0			6											49	48	49					6																	46824641		2203	4300	6503	46932600	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3779T>C	6.37:g.46824641A>G	ENSP00000283296:p.Leu1260Ser		46932600	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270342	0.80469	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.56	5.56	0.83823	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.44097	D	0.000500	T	0.62196	0.2408	M	0.71296	2.17	0.41184	D	0.986252	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.988;0.996;1.0;0.991;1.0	T	0.67628	-0.5622	10	0.87932	D	0	-17.1955	16.0193	0.80468	1.0:0.0:0.0:0.0	.	689;815;1260;1118;1260	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	S	1260;1260;1260;1118;631;1260;689	ENSP00000283296:L1260S;ENSP00000354563:L1260S;ENSP00000412866:L1118S;ENSP00000265417:L1260S;ENSP00000441581:L689S	ENSP00000265417:L1260S	L	-	2	0	GPR116	46932600	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.726000	0.84824	2.241000	0.73720	0.528000	0.53228	TTA		0.353	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		G	46824641	A	G	46824641	3	3	337	1	0	0	0	0	1	0	0	0	6633	372	13	4	277	4	GPR116	6	46824641	Missense_Mutation	SNP	A	TCGA-29-1711-01A-01W-0633-09	14644287	46824641	124290426	20	18042											
GPR116	221395	genome.wustl.edu	37	6	46830635	46830651	+	Frame_Shift_Del	DEL	TGGAGCAGACTGTTTAT	TGGAGCAGACTGTTTAT	-	rs370227779|rs2273266	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	TGGAGCAGACTGTTTAT	TGGAGCAGACTGTTTAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:46830635_46830651delTGGAGCAGACTGTTTAT	ENST00000283296.7	-	15	2461_2477	c.2173_2189delATAAACAGTCTGCTCCA	c.(2173-2190)ataaacagtctgctccagfs	p.INSLLQ725fs	GPR116_ENST00000456426.2_Frame_Shift_Del_p.INSLLQ583fs|GPR116_ENST00000545669.1_Frame_Shift_Del_p.INSLLQ154fs|GPR116_ENST00000362015.4_Frame_Shift_Del_p.INSLLQ725fs|GPR116_ENST00000265417.7_Frame_Shift_Del_p.INSLLQ725fs	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	725					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTTAGCCATCTGGAGCAGACTGTTTATTGGGGCAGAG	0.507																																					NSCLC(59;410 1274 8751 36715 50546)											0			6																																								46938610	SO:0001589	frameshift_variant	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2173_2189delATAAACAGTCTGCTCCA	6.37:g.46830635_46830651delTGGAGCAGACTGTTTAT	ENSP00000283296:p.Ile725fs		46938594	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Frame_Shift_Del	DEL	ENST00000283296.7	37	CCDS4919.1																																																																																				0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		-	46830651	TGGAGCAGACTGTTTAT	-	46830635	7	5	337	1	0	1	0	1	0	0	0	0	6633	1580	55	0	1879	0	GPR116	6	46830635	Frame_Shift_Del	DEL	TGGAGCAGACTGTTTAT	TCGA-29-1711-01A-01W-0633-09	5994	46830635	124284432	21	18043											
EPM2A	7957	genome.wustl.edu	37	6	145956411	145956411	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr6:145956411A>C	ENST00000367519.3	-	3	1213	c.688T>G	c.(688-690)Tgg>Ggg	p.W230G	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	230					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		GTTGGCATCCAGATGTAGGCC	0.463																																																0			6											102	93	96					6																	145956411		2203	4300	6503	145998104	SO:0001583	missense	7957			AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3413	protein-coding gene	gene with protein product		607566	"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.688T>G	6.37:g.145956411A>C	ENSP00000356489:p.Trp230Gly		145998104	B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	CCDS5206.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333966	0.81801	.	.	ENSG00000112425	ENST00000535403;ENST00000367519;ENST00000392304;ENST00000324857	T	0.59772	0.24	5.91	5.91	0.95273	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.994;1.0	T	0.65113	-0.6247	10	0.33940	T	0.23	-16.9067	16.3512	0.83208	1.0:0.0:0.0:0.0	.	230;230;92	O95278;O95278-2;E1P599	EPM2A_HUMAN;.;.	G	230	ENSP00000356489:W230G	ENSP00000320279:W230G	W	-	1	0	EPM2A	145998104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.266000	0.75297	0.533000	0.62120	TGG		0.463	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			C	145956411	A	C	145956411	3	2	337	1	0	0	0	0	1	0	0	0	5183	188	7	5	349	5	EPM2A	6	145956411	Missense_Mutation	SNP	A	TCGA-29-1711-01A-01W-0633-09	99125776	145956411	25158656	22	18044											
RELN	5649	genome.wustl.edu	37	7	103234831	103234831	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr7:103234831G>C	ENST00000428762.1	-	26	3807	c.3648C>G	c.(3646-3648)gaC>gaG	p.D1216E	RELN_ENST00000343529.5_Missense_Mutation_p.D1216E|RELN_ENST00000424685.2_Missense_Mutation_p.D1216E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1216					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATGATGATGTCATCGACTG	0.512																																					NSCLC(146;835 1944 15585 22231 52158)											0			7											273	261	265					7																	103234831		2203	4300	6503	103022067	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3648C>G	7.37:g.103234831G>C	ENSP00000392423:p.Asp1216Glu		103022067	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689805	0.68271	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.27256	1.68;1.68;1.68	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	L	0.58428	1.81	0.44417	D	0.997335	P;D	0.64830	0.694;0.994	B;D	0.70716	0.425;0.97	T	0.39014	-0.9634	10	0.66056	D	0.02	.	11.2975	0.49286	0.1416:0.0:0.8584:0.0	.	1216;1216	P78509-2;P78509	.;RELN_HUMAN	E	1216	ENSP00000392423:D1216E;ENSP00000345694:D1216E;ENSP00000388446:D1216E	ENSP00000345694:D1216E	D	-	3	2	RELN	103022067	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.929000	0.28844	1.394000	0.46624	0.591000	0.81541	GAC		0.512	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103234831	G	C	103234831	3	2	337	1	0	0	0	0	1	0	0	0	13223	1368	48	3	6894	3	RELN	7	103234831	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09		103234831	55903832	23	18045											
MLL5	55904	genome.wustl.edu	37	7	104747088	104747088	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr7:104747088A>C	ENST00000311117.3	+	20	3261	c.2716A>C	c.(2716-2718)Atg>Ctg	p.M906L	KMT2E_ENST00000257745.4_Missense_Mutation_p.M906L|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.M906L|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	906					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TATTACTCCTATGGACCCATC	0.423																																																0			7											162	163	163					7																	104747088		2203	4300	6503	104534324	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2716A>C	7.37:g.104747088A>C	ENSP00000312379:p.Met906Leu		104534324	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	9.078	0.998578	0.19121	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.90324	-2.65;-2.32;-2.65	5.34	0.2	0.15181	.	0.862304	0.10260	N	0.696075	T	0.77384	0.4122	N	0.14661	0.345	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.60855	-0.7180	10	0.26408	T	0.33	.	1.4679	0.02410	0.5176:0.1096:0.2201:0.1527	.	906	Q8IZD2	MLL5_HUMAN	L	906;906;906;826;906	ENSP00000312379:M906L;ENSP00000335599:M906L;ENSP00000257745:M906L	ENSP00000257745:M906L	M	+	1	0	MLL5	104534324	0.086000	0.21541	0.012000	0.15200	0.988000	0.76386	0.447000	0.21710	-0.197000	0.10350	-0.361000	0.07541	ATG		0.423	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			C	104747088	A	C	104747088	3	2	337	1	0	0	0	0	1	0	0	0	9624	449	16	5	2786	5	MLL5	7	104747088	Missense_Mutation	SNP	A	TCGA-29-1711-01A-01W-0633-09	1512257	104747088	54391575	24	18046											
HIPK2	28996	genome.wustl.edu	37	7	139316426	139316426	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr7:139316426G>T	ENST00000406875.3	-	3	1243	c.1149C>A	c.(1147-1149)gaC>gaA	p.D383E	HIPK2_ENST00000342645.6_Missense_Mutation_p.D383E|HIPK2_ENST00000428878.2_Missense_Mutation_p.D383E	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	383	Interaction with DAXX.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGACCACATGTCAATTGCCT	0.468																																																0			7											103	98	100					7																	139316426		2000	4201	6201	138966966	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1149C>A	7.37:g.139316426G>T	ENSP00000385571:p.Asp383Glu		138966966	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.141243	0.77775	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.74106	-0.81;-0.81;-0.81	5.18	-0.296	0.12824	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83885	0.5351	.	.	.	0.41293	D	0.986996	P;D	0.61697	0.939;0.99	P;D	0.75484	0.552;0.986	T	0.82707	-0.0324	8	0.87932	D	0	.	10.7287	0.46083	0.5136:0.0:0.4864:0.0	.	383;383	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	E	383	ENSP00000385571:D383E;ENSP00000413724:D383E;ENSP00000343108:D383E	ENSP00000343108:D383E	D	-	3	2	HIPK2	138966966	0.998000	0.40836	0.986000	0.45419	0.964000	0.63967	0.431000	0.21444	-0.264000	0.09365	-0.373000	0.07131	GAC		0.468	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		T	139316426	G	T	139316426	3	4	337	1	0	0	0	0	1	0	0	0	7117	1368	48	3	2499	3	HIPK2	7	139316426	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	34569338	139316426	19822237	25	18047											
WDYHV1	55093	genome.wustl.edu	37	8	124440176	124440176	+	Silent	SNP	T	T	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr8:124440176T>A	ENST00000287387.2	+	2	221	c.96T>A	c.(94-96)atT>atA	p.I32I	WDYHV1_ENST00000518125.1_5'Flank|WDYHV1_ENST00000523984.1_5'UTR|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Silent_p.I32I	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	32			I -> V (in dbSNP:rs6999234). {ECO:0000269|PubMed:15489334}.		cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AAGAAAATATTTGGAAGCTCT	0.299																																																0			8											112	129	123					8																	124440176		2203	4300	6503	124509357	SO:0001819	synonymous_variant	55093			AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 32"	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.96T>A	8.37:g.124440176T>A			124509357	B4DE68|Q9NW95	Silent	SNP	ENST00000287387.2	37	CCDS6344.1																																																																																				0.299	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		A	124440176	T	A	124440176	2	1	337	1	0	0	0	0	0	0	0	1	17343	1829	64	5		5	WDYHV1	8	124440176	Silent	SNP	T	TCGA-29-1711-01A-01W-0633-09		124440176	21923846	26	18048											
COL15A1	1306	genome.wustl.edu	37	9	101778391	101778391	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr9:101778391G>C	ENST00000375001.3	+	11	2060	c.1637G>C	c.(1636-1638)tGg>tCg	p.W546S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	546	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTGAAAGATGGATCACTCCA	0.592																																																0			9											37	38	38					9																	101778391		2203	4300	6503	100818212	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1637G>C	9.37:g.101778391G>C	ENSP00000364140:p.Trp546Ser		100818212	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	2.141	-0.396770	0.04899	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.88509	-2.39	3.94	-7.88	0.01178	.	15.785400	0.00424	N	0.000066	T	0.70098	0.3185	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.69235	-0.5198	10	0.06365	T	0.9	21.1486	4.394	0.11355	0.1066:0.5209:0.1404:0.2321	.	546	P39059	COFA1_HUMAN	S	546;516	ENSP00000364140:W546S	ENSP00000364140:W546S	W	+	2	0	COL15A1	100818212	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.649000	0.01993	-1.968000	0.01006	-0.868000	0.02995	TGG		0.592	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		C	101778391	G	C	101778391	3	2	337	1	0	0	0	0	1	0	0	0	3672	1357	47	3	1679	3	COL15A1	9	101778391	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09		101778391	39435040	27	18049											
FAM129B	64855	genome.wustl.edu	37	9	130269566	130269571	+	In_Frame_Del	DEL	CCGCCC	CCGCCC	-	rs532028077	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	CCGCCC	CCGCCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr9:130269566_130269571delCCGCCC	ENST00000373312.3	-	14	2007_2012	c.1794_1799delGGGCGG	c.(1792-1800)gggggcggc>ggc	p.598_600GGG>G	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_In_Frame_Del_p.585_587GGG>G	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	598					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTGGGGCTGCCGCCCCCGCCGCTGT	0.694														17	0.00339457	0.0121	0.0014	5008	,	,		15077	0		0	False		,,,				2504	0															0			9							,	31,4115		6,19,2048					,	-8.3	0			16	29,8021		13,3,4009	no	coding,coding	FAM129B	NM_022833.2,NM_001035534.1	,	19,22,6057	A1A1,A1R,RR		0.3602,0.7477,0.492	,	,		60,12136				129309392	SO:0001651	inframe_deletion	64855			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1794_1799delGGGCGG	9.37:g.130269566_130269571delCCGCCC	ENSP00000362409:p.Gly598_Gly599del		129309387	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	In_Frame_Del	DEL	ENST00000373312.3	37	CCDS35145.1																																																																																				0.694	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		-	130269571	CCGCCC	-	130269566	7	5	337	1	0	1	0	1	0	0	0	0	5437	739	26	0	445	0	FAM129B	9	130269566	In_Frame_Del	DEL	CCGCCC	TCGA-29-1711-01A-01W-0633-09	28491175	130269566	10943865	28	18050											
AKR1C4	1109	genome.wustl.edu	37	10	5247730	5247730	+	Missense_Mutation	SNP	C	C	T	rs531165422	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:5247730C>T	ENST00000380448.1	+	6	633	c.380C>T	c.(379-381)aCg>aTg	p.T127M	AKR1C4_ENST00000263126.1_Missense_Mutation_p.T127M			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	127					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.T127M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						CCAGGTGAGACGCCACTACCA	0.443													C|||	2	0.000399361	8e-04	0	5008	,	,		19952	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	large_intestine(1)	10											120	100	107					10																	5247730		2203	4300	6503	5237730	SO:0001583	missense	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.380C>T	10.37:g.5247730C>T	ENSP00000369814:p.Thr127Met		5237730	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	c	9.936	1.216229	0.22373	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.51071	0.72;0.72	2.9	-5.79	0.02354	NADP-dependent oxidoreductase domain (3);	1.137330	0.06647	N	0.762085	T	0.33789	0.0875	L	0.28400	0.85	0.09310	N	1	P	0.35774	0.519	B	0.40444	0.329	T	0.44205	-0.9343	10	0.87932	D	0	.	4.6262	0.12479	0.4332:0.2806:0.0:0.2862	.	127	P17516	AK1C4_HUMAN	M	127	ENSP00000369814:T127M;ENSP00000263126:T127M	ENSP00000263126:T127M	T	+	2	0	AKR1C4	5237730	0.930000	0.31532	0.000000	0.03702	0.001000	0.01503	1.805000	0.38883	-1.272000	0.02427	-1.734000	0.00692	ACG		0.443	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		T	5247730	C	T	5247730	3	4	337	1	0	0	0	0	1	0	0	0	472	536	19	1	394	1	AKR1C4	10	5247730	Missense_Mutation	SNP	C	TCGA-29-1711-01A-01W-0633-09		5247730	130287017	29	18051											
ANK3	288	genome.wustl.edu	37	10	61834066	61834066	+	Silent	SNP	A	A	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:61834066A>T	ENST00000280772.2	-	37	6764	c.6573T>A	c.(6571-6573)ccT>ccA	p.P2191P	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2191					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAGGTGACACAGGCTCCTCTG	0.443																																																0			10											114	115	115					10																	61834066		2203	4300	6503	61504072	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6573T>A	10.37:g.61834066A>T			61504072	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61834066	A	T	61834066	2	4	337	1	0	0	0	0	0	0	0	1	622	175	7	5		5	ANK3	10	61834066	Silent	SNP	A	TCGA-29-1711-01A-01W-0633-09	56586336	61834066	73700681	30	18052											
COL13A1	1305	genome.wustl.edu	37	10	71562299	71562319	+	In_Frame_Del	DEL	GAGTCCAGGGTCGTGCGGGCT	GAGTCCAGGGTCGTGCGGGCT	-	rs528307100		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	GAGTCCAGGGTCGTGCGGGCT	GAGTCCAGGGTCGTGCGGGCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:71562299_71562319delGAGTCCAGGGTCGTGCGGGCT	ENST00000398978.3	+	1	612_632	c.120_140delGAGTCCAGGGTCGTGCGGGCT	c.(118-141)ccgagtccagggtcgtgcgggctg>ccg	p.SPGSCGL41del	COL13A1_ENST00000398973.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000354547.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398969.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398968.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398972.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398964.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000520133.1_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000356340.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398971.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398966.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000517713.1_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000398974.3_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000520267.1_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000522165.1_In_Frame_Del_p.SPGSCGL41del|COL13A1_ENST00000357811.3_In_Frame_Del_p.SPGSCGL41del	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CACGGCTGCCGAGTCCAGGGTCGTGCGGGCTGCTGACGCTG	0.769																																																0			10																																								71232325	SO:0001651	inframe_deletion	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.120_140delGAGTCCAGGGTCGTGCGGGCT	10.37:g.71562299_71562319delGAGTCCAGGGTCGTGCGGGCT	ENSP00000381949:p.Ser41_Leu47del		71232305		In_Frame_Del	DEL	ENST00000398978.3	37	CCDS44419.1																																																																																				0.769	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		-	71562319	GAGTCCAGGGTCGTGCGGGCT	-	71562299	7	5	337	1	0	1	0	1	0	0	0	0	3670	1045	37	0	122	0	COL13A1	10	71562299	In_Frame_Del	DEL	GAGTCCAGGGTCGTGCGGGCT	TCGA-29-1711-01A-01W-0633-09	9728233	71562299	63972448	31	18053											
NODAL	4838	genome.wustl.edu	37	10	72195388	72195388	+	Missense_Mutation	SNP	G	G	A	rs143239895	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:72195388G>A	ENST00000287139.3	-	2	544	c.545C>T	c.(544-546)cCg>cTg	p.P182L	AC022532.1_ENST00000420338.2_Missense_Mutation_p.R112Q	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	182					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGGGGGCCGCGGCCAGCACTC	0.632													G|||	8	0.00159744	0.0061	0	5008	,	,		17416	0		0	False		,,,				2504	0															0			10						G	LEU/PRO	11,4395	14.3+/-33.2	0,11,2192	31	33	33		545	-11.8	0	10	dbSNP_134	33	0,8600		0,0,4300	yes	missense	NODAL	NM_018055.4	98	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	benign	182/348	72195388	11,12995	2203	4300	6503	71865394	SO:0001583	missense	4838			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"nodal, mouse, homolog", "nodal homolog (mouse)"			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.545C>T	10.37:g.72195388G>A	ENSP00000287139:p.Pro182Leu		71865394	Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	CCDS7304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.838|5.838	0.338904|0.338904	0.11069|0.11069	0.002497|0.002497	0.0|0.0	ENSG00000156574|ENSG00000197604	ENST00000287139;ENST00000414871|ENST00000420338	D;D|.	0.84516|.	-1.85;-1.86|.	5.88|5.88	-11.8|-11.8	0.00035|0.00035	.|.	1.767130|.	0.02086|.	N|.	0.052743|.	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.01281|.	0.0|.	T|T	0.56902|0.56902	-0.7902|-0.7902	9|6	.|0.87932	.|D	.|0	.|.	10.5967|10.5967	0.45343|0.45343	0.064:0.2635:0.5181:0.1544|0.064:0.2635:0.5181:0.1544	.|.	182|.	Q96S42|.	NODAL_HUMAN|.	L|Q	182;127|112	ENSP00000287139:P182L;ENSP00000394468:P127L|.	.|ENSP00000411125:R112Q	P|R	-|+	2|2	0|0	NODAL|AC022532.1	71865394|71865394	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-3.122000|-3.122000	0.00594|0.00594	-3.780000|-3.780000	0.00108|0.00108	-2.193000|-2.193000	0.00311|0.00311	CCG|CGG		0.632	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		A	72195388	G	A	72195388	3	1	337	1	0	0	0	0	1	0	0	0	10518	1116	39	1	506	1	NODAL	10	72195388	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	633089	72195388	63339359	32	18054											
DLG5	9231	genome.wustl.edu	37	10	79581190	79581229	+	Frame_Shift_Del	DEL	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	-	rs34532080|rs201748635		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:79581190_79581229delTTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	ENST00000372391.2	-	15	3018_3057	c.3013_3052delAAGAGGGCGGGGCCTCTGACACCCCCAAAACCTCCCAGAA	c.(3013-3054)aagagggcggggcctctgacacccccaaaacctcccagaaggfs	p.KRAGPLTPPKPPRR1005fs	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1005	Pro-rich.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.P1016L(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGTCGCTCCTTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTTGGAGGGCTGG	0.604																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	10																																								79251235	SO:0001589	frameshift_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3013_3052delAAGAGGGCGGGGCCTCTGACACCCCCAAAACCTCCCAGAA	10.37:g.79581190_79581229delTTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	ENSP00000361467:p.Lys1005fs		79251196	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Frame_Shift_Del	DEL	ENST00000372391.2	37	CCDS7353.2																																																																																				0.604	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			-	79581229	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	-	79581190	7	5	337	1	0	1	0	1	0	0	0	0	4558	1608	56	0	2779	0	DLG5	10	79581190	Frame_Shift_Del	DEL	TTCTGGGAGGTTTTGGGGGTGTCAGAGGCCCCGCCCTCTT	TCGA-29-1711-01A-01W-0633-09	7385802	79581190	55953557	33	18055											
MMRN2	79812	genome.wustl.edu	37	10	88703729	88703729	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr10:88703729T>C	ENST00000372027.5	-	6	1133	c.812A>G	c.(811-813)cAg>cGg	p.Q271R	MMRN2_ENST00000488950.1_5'UTR	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	271					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GGAGATGGCCTGGCGGTTGGC	0.567																																																0			10											65	60	62					10																	88703729		2203	4300	6503	88693709	SO:0001583	missense	79812			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.812A>G	10.37:g.88703729T>C	ENSP00000361097:p.Gln271Arg		88693709	Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	4.494	0.091535	0.08632	.	.	ENSG00000173269	ENST00000372027	T	0.15139	2.45	5.19	1.52	0.23074	.	0.570478	0.16808	N	0.198696	T	0.12689	0.0308	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.21690	-1.0238	10	0.39692	T	0.17	-23.2148	8.7927	0.34861	0.0:0.3002:0.0:0.6998	.	210;271	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	R	271	ENSP00000361097:Q271R	ENSP00000361097:Q271R	Q	-	2	0	MMRN2	88693709	0.970000	0.33590	0.804000	0.32291	0.224000	0.24922	0.533000	0.23082	0.277000	0.22141	0.459000	0.35465	CAG		0.567	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		C	88703729	T	C	88703729	3	2	337	1	0	0	0	0	1	0	0	0	9671	1580	55	4	2045	4	MMRN2	10	88703729	Missense_Mutation	SNP	T	TCGA-29-1711-01A-01W-0633-09	9122539	88703729	46831018	34	18056											
KRT3	3850	genome.wustl.edu	37	12	53186499	53186499	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr12:53186499T>C	ENST00000417996.2	-	4	1093	c.1019A>G	c.(1018-1020)gAc>gGc	p.D340G	KRT3_ENST00000309505.3_Missense_Mutation_p.D340G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	340	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CCTTACAGCGTCGTAGAGGGT	0.473																																																0			12											168	168	168					12																	53186499		2070	4243	6313	51472766	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1019A>G	12.37:g.53186499T>C	ENSP00000413479:p.Asp340Gly		51472766	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363104	0.41902	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.97772	-4.53;-4.53	4.39	3.2	0.36748	Filament (1);	0.000000	0.47455	D	0.000230	D	0.98340	0.9449	M	0.90252	3.1	0.40643	D	0.981962	D	0.61697	0.99	P	0.57720	0.826	D	0.98570	1.0645	10	0.87932	D	0	.	10.3019	0.43656	0.0:0.0:0.3186:0.6814	.	340	P12035	K2C3_HUMAN	G	340	ENSP00000413479:D340G;ENSP00000312206:D340G	ENSP00000312206:D340G	D	-	2	0	KRT3	51472766	0.971000	0.33674	0.115000	0.21578	0.223000	0.24884	2.601000	0.46249	0.802000	0.34089	0.402000	0.26972	GAC		0.473	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		C	53186499	T	C	53186499	3	2	337	1	0	0	0	0	1	0	0	0	8466	1667	58	4	891	4	KRT3	12	53186499	Missense_Mutation	SNP	T	TCGA-29-1711-01A-01W-0633-09		53186499	80665396	35	18057											
AMHR2	269	genome.wustl.edu	37	12	53818632	53818632	+	Silent	SNP	T	T	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr12:53818632T>G	ENST00000257863.4	+	3	452	c.372T>G	c.(370-372)ccT>ccG	p.P124P	AMHR2_ENST00000550311.1_Silent_p.P124P|AMHR2_ENST00000379791.3_Silent_p.P124P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	124					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCATCTGCCTCCTCCAGGGA	0.647																																																0			12											88	90	89					12																	53818632		2203	4300	6503	52104899	SO:0001819	synonymous_variant	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.372T>G	12.37:g.53818632T>G			52104899	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	CCDS8858.1																																																																																				0.647	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		G	53818632	T	G	53818632	2	3	337	1	0	0	0	0	0	0	0	1	573	1538	54	5		5	AMHR2	12	53818632	Silent	SNP	T	TCGA-29-1711-01A-01W-0633-09	632133	53818632	80033263	36	18058											
TCP11L2	255394	genome.wustl.edu	37	12	106704901	106704901	+	Silent	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr12:106704901C>T	ENST00000299045.3	+	2	222	c.48C>T	c.(46-48)agC>agT	p.S16S	TCP11L2_ENST00000547153.1_Silent_p.S16S|TCP11L2_ENST00000546625.1_Silent_p.S16S	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	16	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACCAGCCAAGCGATTCTGATT	0.507																																																0			12											168	138	148					12																	106704901		2203	4300	6503	105229031	SO:0001819	synonymous_variant	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.48C>T	12.37:g.106704901C>T			105229031	B2RA65|G3V1Y9	Silent	SNP	ENST00000299045.3	37	CCDS9104.1																																																																																				0.507	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		T	106704901	C	T	106704901	2	4	337	1	0	0	0	0	0	0	0	1	15715	767	27	1		1	TCP11L2	12	106704901	Silent	SNP	C	TCGA-29-1711-01A-01W-0633-09	52886269	106704901	27146994	37	18059											
KLF5	688	genome.wustl.edu	37	13	73636135	73636135	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr13:73636135G>T	ENST00000377687.4	+	2	934	c.398G>T	c.(397-399)aGt>aTt	p.S133I	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.S42I	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	133					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TTACCTTACAGTATCAACATG	0.463																																																0			13											203	179	187					13																	73636135		2203	4300	6503	72534136	SO:0001583	missense	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.398G>T	13.37:g.73636135G>T	ENSP00000366915:p.Ser133Ile		72534136	L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942613	0.53079	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.10668	3.11;2.85	5.95	5.95	0.96441	.	0.073250	0.85682	D	0.000000	T	0.34019	0.0883	M	0.71036	2.16	0.58432	D	0.999998	D	0.69078	0.997	D	0.64237	0.923	T	0.00981	-1.1492	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	133	Q13887	KLF5_HUMAN	I	42;133;113	ENSP00000440407:S42I;ENSP00000366915:S133I	ENSP00000366915:S133I	S	+	2	0	KLF5	72534136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.301000	0.59086	2.817000	0.96982	0.563000	0.77884	AGT		0.463	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			T	73636135	G	T	73636135	3	4	337	1	0	0	0	0	1	0	0	0	8349	1029	36	3	404	3	KLF5	13	73636135	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09		73636135	41533743	38	18060											
MCF2L	23263	genome.wustl.edu	37	13	113738347	113738347	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr13:113738347G>A	ENST00000375608.3	+	19	2175	c.2117G>A	c.(2116-2118)tGc>tAc	p.C706Y	MCF2L_ENST00000442652.2_Missense_Mutation_p.C706Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.C674Y|MCF2L_ENST00000397030.1_Missense_Mutation_p.C709Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.C733Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.C682Y|MCF2L_ENST00000423482.2_Missense_Mutation_p.C674Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.C680Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.C676Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.C680Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	706	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TACACTGACTGCCCAGAACTG	0.428																																																0			13											248	211	224					13																	113738347		2203	4300	6503	112786348	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2117G>A	13.37:g.113738347G>A	ENSP00000364758:p.Cys706Tyr		112786348	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.	.	.	.	.	.	.	.	.	.	G	8.091	0.774590	0.16051	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.04	2.98	0.34508	Dbl homology (DH) domain (5);	0.107097	0.64402	D	0.000003	T	0.23532	0.0569	N	0.21508	0.67	0.40037	D	0.975605	B;B;B;B;B;B	0.15930	0.007;0.007;0.012;0.005;0.015;0.015	B;B;B;B;B;B	0.15484	0.005;0.005;0.007;0.006;0.011;0.013	T	0.12993	-1.0526	10	0.52906	T	0.07	.	2.3008	0.04162	0.2996:0.3216:0.3789:0.0	.	674;676;733;638;674;706	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	Y	706;706;733;709;676;680;680;682;674;674;517	ENSP00000364758:C706Y;ENSP00000401422:C706Y;ENSP00000364754:C733Y;ENSP00000380225:C709Y;ENSP00000440374:C676Y;ENSP00000397285:C680Y;ENSP00000364751:C680Y;ENSP00000407722:C682Y;ENSP00000405639:C674Y;ENSP00000364747:C674Y	ENSP00000364747:C674Y	C	+	2	0	MCF2L	112786348	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	2.492000	0.45311	1.105000	0.41606	0.561000	0.74099	TGC		0.428	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			A	113738347	G	A	113738347	3	1	337	1	0	0	0	0	1	0	0	0	9379	1319	46	2	2363	2	MCF2L	13	113738347	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	40102212	113738347	1431531	39	18061											
SYNE2	23224	genome.wustl.edu	37	14	64457203	64457203	+	Silent	SNP	A	A	G			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr14:64457203A>G	ENST00000344113.4	+	20	2600	c.2388A>G	c.(2386-2388)caA>caG	p.Q796Q	SYNE2_ENST00000358025.3_Silent_p.Q796Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.Q796Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	796					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGATATACAAAATATTTCAA	0.358																																																0			14											106	103	104					14																	64457203		1838	4100	5938	63526956	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2388A>G	14.37:g.64457203A>G			63526956	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64457203	A	G	64457203	2	3	337	1	0	0	0	0	0	0	0	1	15446	11	1	4		4	SYNE2	14	64457203	Silent	SNP	A	TCGA-29-1711-01A-01W-0633-09		64457203	42892337	40	18062											
STRC	161497	genome.wustl.edu	37	15	43909843	43909843	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr15:43909843G>A	ENST00000450892.2	-	2	853	c.776C>T	c.(775-777)aCt>aTt	p.T259I	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	259					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CAGGGAGTGAGTGACACGGAG	0.632																																																0			15											1	1	1					15																	43909843		297	944	1241	41697135	SO:0001583	missense	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.776C>T	15.37:g.43909843G>A	ENSP00000401513:p.Thr259Ile		41697135		Missense_Mutation	SNP	ENST00000450892.2	37	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737650	0.69304	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	T	0.80738	-1.41	5.05	4.13	0.48395	.	0.000000	0.64402	D	0.000004	D	0.82678	0.5089	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.98	D	0.83744	0.0205	10	0.87932	D	0	-9.8642	10.5665	0.45175	0.0937:0.0:0.9063:0.0	.	259;259	E9PBT5;Q7RTU9	.;STRC_HUMAN	I	259;259;259;199	ENSP00000401513:T259I	ENSP00000299992:T259I	T	-	2	0	STRC	41697135	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.225000	0.58600	2.370000	0.80446	0.632000	0.83419	ACT		0.632	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		A	43909843	G	A	43909843	3	1	337	1	0	0	0	0	1	0	0	0	15330	1029	36	2	4663	2	STRC	15	43909843	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09		43909843	58621549	41	18063											
ADAMTSL3	57188	genome.wustl.edu	37	15	84652000	84652000	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr15:84652000G>T	ENST00000286744.5	+	21	3844	c.3620G>T	c.(3619-3621)aGg>aTg	p.R1207M	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1207M	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1207	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTACAAAAAGGACAGAGGTC	0.403																																																0			15											115	123	120					15																	84652000		2203	4300	6503	82443004	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3620G>T	15.37:g.84652000G>T	ENSP00000286744:p.Arg1207Met		82443004	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661135	0.47572	.	.	ENSG00000156218	ENST00000286744	T	0.72394	-0.65	5.43	2.43	0.29744	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.364672	0.20057	N	0.100168	T	0.72195	0.3430	M	0.62723	1.935	0.09310	N	1	P;P	0.49253	0.824;0.921	P;P	0.52267	0.694;0.645	T	0.62015	-0.6943	10	0.46703	T	0.11	.	7.6018	0.28079	0.5094:0.0:0.4906:0.0	.	1207;1207	P82987-2;P82987	.;ATL3_HUMAN	M	1207	ENSP00000286744:R1207M	ENSP00000286744:R1207M	R	+	2	0	ADAMTSL3	82443004	0.995000	0.38212	0.005000	0.12908	0.991000	0.79684	0.779000	0.26746	0.215000	0.20761	0.557000	0.71058	AGG		0.403	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		T	84652000	G	T	84652000	3	4	337	1	0	0	0	0	1	0	0	0	276	1000	35	3	3698	3	ADAMTSL3	15	84652000	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	40742157	84652000	17879392	42	18064											
TP53	7157	genome.wustl.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	CATGTAGTTGTAGTGGATGGT	0.572		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"	141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	17	GRCh37	CM035576	TP53	M							119	95	103					17																	7577580		2203	4300	6503	7518305	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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys		7518305	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	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577580	T	C	7577580	3	2	337	1	0	0	0	0	1	0	0	0	16381	1638	57	4	589	4	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-29-1711-01A-01W-0633-09		7577580	73617630	43	18065											
CDK12	51755	genome.wustl.edu	37	17	37646836	37646836	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:37646836C>T	ENST00000447079.4	+	3	1991	c.1958C>T	c.(1957-1959)cCt>cTt	p.P653L	CDK12_ENST00000430627.2_Missense_Mutation_p.P653L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	653					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCTTCAAAACCTGTGAAGAAA	0.398			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17											55	50	52					17																	37646836		2203	4300	6503	34900362	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1958C>T	17.37:g.37646836C>T	ENSP00000398880:p.Pro653Leu		34900362	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529397	0.44969	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.72615	-0.65;-0.67	5.15	5.15	0.70609	.	0.000000	0.44483	D	0.000453	T	0.64271	0.2583	L	0.44542	1.39	0.46028	D	0.998826	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.11329	0.001;0.002;0.006	T	0.63180	-0.6695	10	0.66056	D	0.02	-7.2637	13.9124	0.63876	0.0:0.8474:0.1526:0.0	.	652;653;653	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	L	653	ENSP00000407720:P653L;ENSP00000398880:P653L	ENSP00000407720:P653L	P	+	2	0	CDK12	34900362	1.000000	0.71417	0.995000	0.50966	0.525000	0.34531	1.556000	0.36288	2.416000	0.81992	0.655000	0.94253	CCT		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		T	37646836	C	T	37646836	3	4	337	1	0	0	0	0	1	0	0	0	3128	681	24	2	1968	2	CDK12	17	37646836	Missense_Mutation	SNP	C	TCGA-29-1711-01A-01W-0633-09	30069256	37646836	43548374	44	18066											
KRTAP4-2	85291	genome.wustl.edu	37	17	39334314	39334314	+	Missense_Mutation	SNP	A	A	T	rs200720939		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:39334314A>T	ENST00000377726.2	-	1	146	c.103T>A	c.(103-105)Tgc>Agc	p.C35S		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	35	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGGCGGCAGCAGGTGGTCCTG	0.657																																																0			17											48	52	50					17																	39334314		2199	4289	6488	36587840	SO:0001583	missense	85291			AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"Keratin associated proteins"	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.103T>A	17.37:g.39334314A>T	ENSP00000366955:p.Cys35Ser		36587840	A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	9.002	0.980423	0.18812	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.02085	4.46	4.24	4.24	0.50183	.	0.212644	0.23275	U	0.049980	T	0.10035	0.0246	H	0.95402	3.665	0.32423	N	0.54916	B	0.33883	0.43	B	0.40602	0.334	T	0.00912	-1.1517	10	0.49607	T	0.09	.	11.5905	0.50943	1.0:0.0:0.0:0.0	.	35	Q9BYR5	KRA42_HUMAN	S	35;152	ENSP00000366955:C35S	ENSP00000366955:C35S	C	-	1	0	KRTAP4-2	36587840	0.997000	0.39634	0.987000	0.45799	0.045000	0.14185	4.092000	0.57707	1.667000	0.50832	0.421000	0.28195	TGC		0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			T	39334314	A	T	39334314	3	4	337	1	0	0	0	0	1	0	0	0	8551	188	7	5	311	5	KRTAP4-2	17	39334314	Missense_Mutation	SNP	A	TCGA-29-1711-01A-01W-0633-09	1687478	39334314	41860896	45	18067											
ABCA5	23461	genome.wustl.edu	37	17	67250520	67250520	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:67250520G>C	ENST00000392676.3	-	32	4244	c.4180C>G	c.(4180-4182)Cat>Gat	p.H1394D	ABCA5_ENST00000588877.1_Missense_Mutation_p.H1394D|ABCA5_ENST00000392677.2_Missense_Mutation_p.H1395D			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1394	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATTTCAAAATGTTCCTGCAAT	0.358																																																0			17											132	128	130					17																	67250520		2203	4300	6503	64762115	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4180C>G	17.37:g.67250520G>C	ENSP00000376443:p.His1394Asp		64762115	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089218	0.94100	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.93488	-3.23;-3.23	5.98	5.98	0.97165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.97901	0.9310	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98119	1.0424	10	0.72032	D	0.01	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	1394	Q8WWZ7	ABCA5_HUMAN	D	1395;1394	ENSP00000376444:H1395D;ENSP00000376443:H1394D	ENSP00000376443:H1394D	H	-	1	0	ABCA5	64762115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.926000	0.92839	2.838000	0.97847	0.655000	0.94253	CAT		0.358	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		C	67250520	G	C	67250520	3	2	337	1	0	0	0	0	1	0	0	0	35	1377	48	3	780	3	ABCA5	17	67250520	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	27916206	67250520	13944690	46	18068											
DNAH17	8632	genome.wustl.edu	37	17	76497301	76497301	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr17:76497301G>T	ENST00000585328.1	-	35	5557	c.5433C>A	c.(5431-5433)aaC>aaA	p.N1811K	DNAH17_ENST00000389840.5_Missense_Mutation_p.N1802K|DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1802	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCGCGGCGTGTTGCCCAGAT	0.577																																																0			17											102	113	109					17																	76497301		2176	4288	6464	74008896	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5433C>A	17.37:g.76497301G>T	ENSP00000465516:p.Asn1811Lys		74008896	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	G	18.38	3.611803	0.66558	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.12774	2.65	4.24	2.19	0.27852	.	.	.	.	.	T	0.39410	0.1077	M	0.93898	3.47	0.37104	D	0.900029	.	.	.	.	.	.	T	0.53041	-0.8494	7	0.72032	D	0.01	.	8.6857	0.34236	0.2542:0.0:0.7458:0.0	.	.	.	.	K	1811;1802	ENSP00000374490:N1802K	ENSP00000300671:N1811K	N	-	3	2	DNAH17	74008896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.909000	0.56363	0.905000	0.36596	0.448000	0.29417	AAC		0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76497301	G	T	76497301	3	4	337	1	0	0	0	0	1	0	0	0	4601	1368	48	3	8128	3	DNAH17	17	76497301	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	9246781	76497301	4697909	47	18069											
LAMA1	284217	genome.wustl.edu	37	18	7032153	7032153	+	Missense_Mutation	SNP	C	C	T	rs144429570	byFrequency	TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr18:7032153C>T	ENST00000389658.3	-	16	2279	c.2186G>A	c.(2185-2187)cGc>cAc	p.R729H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	729	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCCATCCACGCGGTAATAGCC	0.478													C|||	6	0.00119808	0	0	5008	,	,		17847	0.001		0.005	False		,,,				2504	0															0			18						C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	93	74	80		2186	5.5	0.9	18	dbSNP_134	80	27,8573	19.2+/-60.6	0,27,4273	yes	missense	LAMA1	NM_005559.3	29	0,32,6471	TT,TC,CC		0.314,0.1135,0.246	probably-damaging	729/3076	7032153	32,12974	2203	4300	6503	7022153	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2186G>A	18.37:g.7032153C>T	ENSP00000374309:p.Arg729His		7022153		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	28.3	4.911440	0.92178	0.001135	0.00314	ENSG00000101680	ENST00000389658	T	0.64260	-0.09	5.51	5.51	0.81932	EGF-like, laminin (2);	0.077740	0.49916	D	0.000136	T	0.75583	0.3869	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.79546	-0.1759	10	0.46703	T	0.11	.	17.5921	0.87999	0.0:1.0:0.0:0.0	.	729	P25391	LAMA1_HUMAN	H	729	ENSP00000374309:R729H	ENSP00000374309:R729H	R	-	2	0	LAMA1	7022153	1.000000	0.71417	0.881000	0.34555	0.716000	0.41182	7.462000	0.80851	2.572000	0.86782	0.655000	0.94253	CGC		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7032153	C	T	7032153	3	4	337	1	0	0	0	0	1	0	0	0	8605	768	27	1	7233	1	LAMA1	18	7032153	Missense_Mutation	SNP	C	TCGA-29-1711-01A-01W-0633-09		7032153	71045095	48	18070											
MAP1S	55201	genome.wustl.edu	37	19	17838637	17838637	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr19:17838637G>T	ENST00000324096.4	+	5	2595	c.2444G>T	c.(2443-2445)gGc>gTc	p.G815V	MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.G789V	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	815	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GACACAGAGGGCTTTGGAGTC	0.662																																																0			19											38	36	36					19																	17838637		2203	4300	6503	17699637	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2444G>T	19.37:g.17838637G>T	ENSP00000325313:p.Gly815Val		17699637	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.968006	0.02232	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18502	2.21;2.21	4.67	-4.22	0.03800	.	0.544292	0.16573	N	0.208535	T	0.13329	0.0323	L	0.50333	1.59	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.004;0.006	T	0.26573	-1.0099	10	0.59425	D	0.04	-11.8893	9.1711	0.37081	0.1743:0.5318:0.2939:0.0	.	789;815	B4DH53;Q66K74	.;MAP1S_HUMAN	V	815;789	ENSP00000325313:G815V;ENSP00000439243:G789V	ENSP00000325313:G815V	G	+	2	0	MAP1S	17699637	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.036000	0.13819	-0.425000	0.07371	-0.150000	0.13652	GGC		0.662	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		T	17838637	G	T	17838637	3	4	337	1	0	0	0	0	1	0	0	0	9234	1203	42	3	2462	3	MAP1S	19	17838637	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09		17838637	41290346	49	18071											
TEAD2	8463	genome.wustl.edu	37	19	49860524	49860524	+	Silent	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr19:49860524G>T	ENST00000311227.2	-	4	435	c.345C>A	c.(343-345)atC>atA	p.I115I	TEAD2_ENST00000593945.1_Silent_p.I115I|TEAD2_ENST00000601519.1_Silent_p.I115I|TEAD2_ENST00000598810.1_Silent_p.I115I|AC010524.4_ENST00000596488.1_RNA|TEAD2_ENST00000377214.4_Silent_p.I115I|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000539846.1_5'UTR	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	115					gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACTTGGACTGGATTTCCCTTG	0.557																																																0			19											153	112	126					19																	49860524		2203	4300	6503	54552336	SO:0001819	synonymous_variant	8463			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.345C>A	19.37:g.49860524G>T			54552336	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Silent	SNP	ENST00000311227.2	37	CCDS12761.1																																																																																				0.557	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		T	49860524	G	T	49860524	2	4	337	1	0	0	0	0	0	0	0	1	15739	1164	41	3		3	TEAD2	19	49860524	Silent	SNP	G	TCGA-29-1711-01A-01W-0633-09	32021887	49860524	9268459	50	18072											
FPR3	2359	genome.wustl.edu	37	19	52327932	52327932	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chr19:52327932G>A	ENST00000339223.4	+	2	1110	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	FPR3_ENST00000595991.1_Missense_Mutation_p.E311K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	311					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TAACTTCCAAGAAAGACTGAT	0.488																																																0			19											120	114	116					19																	52327932		2203	4300	6503	57019744	SO:0001583	missense	2359				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.931G>A	19.37:g.52327932G>A	ENSP00000341821:p.Glu311Lys		57019744		Missense_Mutation	SNP	ENST00000339223.4	37	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	7.182	0.589853	0.13812	.	.	ENSG00000187474	ENST00000339223	T	0.35236	1.32	2.34	-3.48	0.04739	.	0.370250	0.24695	N	0.036348	T	0.25195	0.0612	L	0.54965	1.715	0.09310	N	0.999997	B	0.27656	0.184	B	0.27262	0.078	T	0.23226	-1.0194	10	0.21540	T	0.41	.	7.7022	0.28630	0.6263:0.0:0.3737:0.0	.	311	P25089	FPR3_HUMAN	K	311	ENSP00000341821:E311K	ENSP00000341821:E311K	E	+	1	0	FPR3	57019744	0.997000	0.39634	0.009000	0.14445	0.256000	0.26092	0.386000	0.20702	-0.902000	0.03886	0.305000	0.20034	GAA		0.488	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		A	52327932	G	A	52327932	3	1	337	1	0	0	0	0	1	0	0	0	6040	943	33	2	933	2	FPR3	19	52327932	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09	2467408	52327932	6801051	51	18073											
MAGEB3	4114	genome.wustl.edu	37	X	30254669	30254669	+	Missense_Mutation	SNP	G	G	T	rs149480290		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:30254669G>T	ENST00000361644.2	+	5	1365	c.628G>T	c.(628-630)Gtg>Ttg	p.V210L		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	210	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TCTCCTGGGCGTGATCTTCAT	0.478																																																0			X											45	39	41					X																	30254669		2202	4300	6502	30164590	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.628G>T	X.37:g.30254669G>T	ENSP00000355198:p.Val210Leu		30164590	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	6.503	0.461089	0.12342	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04454	3.62;3.62	4.3	0.516	0.17019	.	0.181913	0.34959	U	0.003559	T	0.03959	0.0111	L	0.37850	1.14	0.09310	N	1	B	0.10296	0.003	B	0.20184	0.028	T	0.35500	-0.9786	10	0.72032	D	0.01	.	4.3588	0.11192	0.2152:0.3581:0.4267:0.0	.	210	O15480	MAGB3_HUMAN	L	210	ENSP00000368271:V210L;ENSP00000355198:V210L	ENSP00000355198:V210L	V	+	1	0	MAGEB3	30164590	0.000000	0.05858	0.041000	0.18516	0.211000	0.24417	-1.104000	0.03326	-0.043000	0.13513	-0.916000	0.02749	GTG		0.478	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		T	30254669	G	T	30254669	3	4	337	1	0	0	0	0	1	0	0	0	9177	1145	40	3	630	3	MAGEB3	23	30254669	Missense_Mutation	SNP	G	TCGA-29-1711-01A-01W-0633-09		30254669	125015891	52	18074											
SMC1A	8243	genome.wustl.edu	37	X	53409161	53409161	+	Silent	SNP	G	G	T			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:53409161G>T	ENST00000322213.4	-	22	3556	c.3429C>A	c.(3427-3429)gcC>gcA	p.A1143A	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1143	Ala/Asp-rich (DA-box).				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ACCTGTGGATGGCAAAGAGCA	0.577																																																0			X											64	49	54					X																	53409161		2203	4300	6503	53425886	SO:0001819	synonymous_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3429C>A	X.37:g.53409161G>T			53425886	O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	CCDS14352.1																																																																																				0.577	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		T	53409161	G	T	53409161	2	4	337	1	0	0	0	0	0	0	0	1	14784	1335	47	3		3	SMC1A	23	53409161	Silent	SNP	G	TCGA-29-1711-01A-01W-0633-09	23154492	53409161	101861399	53	18075											
WNK3	65267	genome.wustl.edu	37	X	54359805	54359836	+	Frame_Shift_Del	DEL	CCACCTCTCAACACATTTGAAGGAAGCTTATC	CCACCTCTCAACACATTTGAAGGAAGCTTATC	-	rs200098628|rs146653146|rs149686278		TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	CCACCTCTCAACACATTTGAAGGAAGCTTATC	CCACCTCTCAACACATTTGAAGGAAGCTTATC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:54359805_54359836delCCACCTCTCAACACATTTGAAGGAAGCTTATC	ENST00000375159.2	-	1	270_301	c.271_302delGATAAGCTTCCTTCAAATGTGTTGAGAGGTGG	c.(271-303)gataagcttccttcaaatgtgttgagaggtggafs	p.DKLPSNVLRGG91fs	WNK3_ENST00000354646.2_Frame_Shift_Del_p.DKLPSNVLRGG91fs|WNK3_ENST00000375169.3_Frame_Shift_Del_p.DKLPSNVLRGG91fs			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	91					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AACTTCTTGTCCACCTCTCAACACATTTGAAGGAAGCTTATCTACTCTTGGA	0.366																																																0			X																																								54376561	SO:0001589	frameshift_variant	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.271_302delGATAAGCTTCCTTCAAATGTGTTGAGAGGTGG	X.37:g.54359805_54359836delCCACCTCTCAACACATTTGAAGGAAGCTTATC	ENSP00000364301:p.Asp91fs		54376530	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Frame_Shift_Del	DEL	ENST00000375159.2	37	CCDS14357.1																																																																																				0.366	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		-	54359836	CCACCTCTCAACACATTTGAAGGAAGCTTATC	-	54359805	7	5	337	1	0	1	0	1	0	0	0	0	17379	855	30	0	5192	0	WNK3	23	54359805	Frame_Shift_Del	DEL	CCACCTCTCAACACATTTGAAGGAAGCTTATC	TCGA-29-1711-01A-01W-0633-09	950644	54359805	100910755	54	18076											
ACSL4	2182	genome.wustl.edu	37	X	108902671	108902671	+	Silent	SNP	T	T	C			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:108902671T>C	ENST00000469796.2	-	15	2286	c.1890A>G	c.(1888-1890)aaA>aaG	p.K630K	ACSL4_ENST00000340800.2_Silent_p.K630K|ACSL4_ENST00000348502.6_Silent_p.K589K			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	630					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CTTCTACCCCTTTCTGTTGTG	0.363																																					Pancreas(188;358 2127 38547 41466 45492)											0			X											148	134	139					X																	108902671		2203	4300	6503	108789327	SO:0001819	synonymous_variant	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1890A>G	X.37:g.108902671T>C			108789327	D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	CCDS14548.1																																																																																				0.363	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		C	108902671	T	C	108902671	2	2	337	1	0	0	0	0	0	0	0	1	179	1606	56	4		4	ACSL4	23	108902671	Silent	SNP	T	TCGA-29-1711-01A-01W-0633-09	54542866	108902671	46367889	55	18077											
KIAA1210	57481	genome.wustl.edu	37	X	118220699	118220699	+	Silent	SNP	G	G	A			TCGA-29-1711-01A-01W-0633-09	TCGA-29-1711-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	39ddd936-df31-4268-9b57-3e0fac1bc69b	72feb979-d793-4e9d-acd7-4b315ef6f80c	g.chrX:118220699G>A	ENST00000402510.2	-	11	4493	c.4494C>T	c.(4492-4494)acC>acT	p.T1498T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1498										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AAGCAAGCTGGGTGAAGTTAT	0.498																																																0			X											79	77	78					X																	118220699		1903	4114	6017	118104727	SO:0001819	synonymous_variant	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4494C>T	X.37:g.118220699G>A			118104727	B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	3.350	-0.132811	0.06711	.	.	ENSG00000248857	ENST00000440399	.	.	.	5.13	-2.44	0.06502	.	.	.	.	.	T	0.20941	0.0504	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27297	-1.0078	4	.	.	.	.	3.7881	0.08709	0.4497:0.0:0.2646:0.2857	.	.	.	.	S	905	.	.	P	-	1	0	KIAA1210	118104727	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.772000	0.04694	-0.588000	0.05882	0.513000	0.50165	CCA		0.498	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		A	118220699	G	A	118220699	2	1	337	1	0	0	0	0	0	0	0	1	8214	1219	43	2		2	KIAA1210	23	118220699	Silent	SNP	G	TCGA-29-1711-01A-01W-0633-09	9318028	118220699	37049861	56	18078											
UTS2	10911	genome.wustl.edu	37	1	7910899	7910899	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:7910899C>G	ENST00000361696.5	-	2	218	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	UTS2_ENST00000377516.2_Missense_Mutation_p.E63Q|UTS2_ENST00000054668.5_Missense_Mutation_p.E78Q	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	63					muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCCTCTTTCTGCACCCAGC	0.453																																																0			1											139	133	135					1																	7910899		2203	4300	6503	7833486	SO:0001583	missense	10911			AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"Endogenous ligands"	12636	protein-coding gene	gene with protein product	"prepro U-II"	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218	ENST00000361696.5:c.187G>C	1.37:g.7910899C>G	ENSP00000355163:p.Glu63Gln		7833486	Q5H8X7|Q6UXF6|Q9UKP7	Missense_Mutation	SNP	ENST00000361696.5	37	CCDS91.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360008	0.24598	.	.	ENSG00000049247	ENST00000377516;ENST00000400910;ENST00000361696;ENST00000054668	T;T;T	0.35605	1.3;1.37;1.34	5.6	2.37	0.29283	.	1.123880	0.06622	N	0.757552	T	0.32164	0.0820	L	0.47716	1.5	0.09310	N	1	B;B;B	0.28850	0.225;0.144;0.112	B;B;B	0.26517	0.07;0.021;0.032	T	0.27872	-1.0061	10	0.42905	T	0.14	-0.008	8.0004	0.30293	0.0:0.4852:0.4216:0.0932	.	78;63;63	O95399-2;O95399;Q5H8X8	.;UTS2_HUMAN;.	Q	63;63;63;78	ENSP00000366738:E63Q;ENSP00000355163:E63Q;ENSP00000054668:E78Q	ENSP00000054668:E78Q	E	-	1	0	UTS2	7833486	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	0.755000	0.32990	0.650000	0.86243	GAA		0.453	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003612.1	NM_006786		G	7910899	C	G	7910899	3	3	338	1	0	0	0	0	1	0	0	0	17104	922	32	3	199	3	UTS2	1	7910899	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09		7910899	241339722	1	18079											
PRDM2	7799	genome.wustl.edu	37	1	14107062	14107062	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:14107062T>A	ENST00000235372.7	+	8	3628	c.2772T>A	c.(2770-2772)gaT>gaA	p.D924E	PRDM2_ENST00000343137.4_Missense_Mutation_p.D723E|PRDM2_ENST00000311066.5_Missense_Mutation_p.D924E|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.D723E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	924					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCAGCCAGATCCTGACCTCG	0.512																																																0			1											91	90	90					1																	14107062		2203	4300	6503	13979649	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2772T>A	1.37:g.14107062T>A	ENSP00000235372:p.Asp924Glu		13979649	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904277	0.33628	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01464	4.99;4.86;4.88;4.88	5.97	-11.5	0.00074	.	0.272317	0.42172	N	0.000755	T	0.00524	0.0017	N	0.05124	-0.11	0.21897	N	0.99949	B;B;B	0.29136	0.001;0.15;0.234	B;B;B	0.25506	0.002;0.027;0.061	T	0.43766	-0.9371	10	0.08599	T	0.76	.	3.6231	0.08103	0.1247:0.4519:0.2543:0.1692	.	782;924;924	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	E	924;924;924;723;723	ENSP00000235372:D924E;ENSP00000312352:D924E;ENSP00000411103:D723E;ENSP00000341621:D723E	ENSP00000235372:D924E	D	+	3	2	PRDM2	13979649	0.000000	0.05858	0.261000	0.24466	0.995000	0.86356	-2.219000	0.01218	-1.613000	0.01577	0.533000	0.62120	GAT		0.512	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		A	14107062	T	A	14107062	3	1	338	1	0	0	0	0	1	0	0	0	12461	1432	50	5	2798	5	PRDM2	1	14107062	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	6196163	14107062	235143559	2	18080											
CDC20	991	genome.wustl.edu	37	1	43825491	43825491	+	Splice_Site	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:43825491G>C	ENST00000372462.1	+	3	629	c.426G>C	c.(424-426)gaG>gaC	p.E142D	CDC20_ENST00000310955.6_Splice_Site_p.E142D|CDC20_ENST00000478882.1_3'UTR|RP1-92O14.3_ENST00000424948.1_RNA			Q12834	CDC20_HUMAN	cell division cycle 20	142					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGCGCCAGAGGGTAAGACCC	0.512																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											0			1											75	82	80					1																	43825491		2203	4300	6503	43598078	SO:0001630	splice_region_variant	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.427+1G>C	1.37:g.43825491G>C			43598078	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245078	0.39697	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.57107	0.42;0.42	5.44	-2.9	0.05648	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.69248	2.105	0.54753	D	0.999989	B	0.25390	0.125	B	0.27262	0.078	T	0.45116	-0.9283	10	0.49607	T	0.09	-14.7601	13.8617	0.63564	0.8065:0.0:0.1935:0.0	.	142	Q12834	CDC20_HUMAN	D	118;142;142	ENSP00000308450:E142D;ENSP00000361540:E142D	ENSP00000308450:E142D	E	+	3	2	CDC20	43598078	1.000000	0.71417	0.810000	0.32431	0.780000	0.44128	1.659000	0.37387	-0.500000	0.06614	-0.150000	0.13652	GAG		0.512	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255	Missense_Mutation	C	43825491	G	C	43825491	5	2	338	1	0	0	0	0	0	0	1	0	3059	1014	35	3	436	3	CDC20	1	43825491	Splice_Site	SNP	G	TCGA-29-1761-01A-01W-0633-09	29718429	43825491	205425130	3	18081											
ORC1L	4998	genome.wustl.edu	37	1	52838908	52838908	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:52838908C>T	ENST00000371568.3	-	17	2749	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	ORC1_ENST00000371566.1_Missense_Mutation_p.R844Q	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	844	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGCCGCACCCGAAGGAGCAG	0.567																																																0			1											99	103	102					1																	52838908		2203	4300	6503	52611496	SO:0001583	missense	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2531G>A	1.37:g.52838908C>T	ENSP00000360623:p.Arg844Gln		52611496	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243518	0.79912	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.42131	0.98;0.98	5.25	5.25	0.73442	CDC6, C-terminal (1);	0.058688	0.64402	D	0.000002	T	0.65698	0.2716	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.66152	-0.5995	10	0.54805	T	0.06	-12.06	19.0315	0.92959	0.0:1.0:0.0:0.0	.	839;844	B7Z8H0;Q13415	.;ORC1_HUMAN	Q	844	ENSP00000360623:R844Q;ENSP00000360621:R844Q	ENSP00000360621:R844Q	R	-	2	0	ORC1	52611496	1.000000	0.71417	0.340000	0.25575	0.119000	0.20118	4.962000	0.63687	2.728000	0.93425	0.650000	0.86243	CGG		0.567	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		T	52838908	C	T	52838908	3	4	338	1	0	0	0	0	1	0	0	0	11261	652	23	1	58	1	ORC1L	1	52838908	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	9013417	52838908	196411713	4	18082											
NEGR1	257194	genome.wustl.edu	37	1	72076721	72076721	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:72076721T>A	ENST00000357731.5	-	5	1015	c.776A>T	c.(775-777)aAa>aTa	p.K259I	NEGR1_ENST00000306821.3_Missense_Mutation_p.K131I|NEGR1_ENST00000434200.1_Missense_Mutation_p.K213I	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	259	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTTCTCTCCTTTGTACCATTC	0.443																																																0			1											120	122	121					1																	72076721		2203	4300	6503	71849309	SO:0001583	missense	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.776A>T	1.37:g.72076721T>A	ENSP00000350364:p.Lys259Ile		71849309	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	CCDS661.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.619533	0.87460	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.75821	-0.97;-0.97;-0.97	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.049640	0.85682	D	0.000000	D	0.85643	0.5744	M	0.87038	2.855	0.53688	D	0.999974	D;D	0.56968	0.978;0.978	D;D	0.71184	0.972;0.949	D	0.88240	0.2909	10	0.87932	D	0	-15.7356	15.6114	0.76721	0.0:0.0:0.0:1.0	.	213;259	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	I	259;131;213	ENSP00000350364:K259I;ENSP00000305938:K131I;ENSP00000413294:K213I	ENSP00000305938:K131I	K	-	2	0	NEGR1	71849309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.498000	0.53302	2.326000	0.78906	0.533000	0.62120	AAA		0.443	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		A	72076721	T	A	72076721	3	1	338	1	0	0	0	0	1	0	0	0	10317	1841	64	5	300	5	NEGR1	1	72076721	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	19237813	72076721	177173900	5	18083											
ZZZ3	26009	genome.wustl.edu	37	1	78098939	78098939	+	Missense_Mutation	SNP	G	G	A	rs200677861	byFrequency	TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:78098939G>A	ENST00000370801.3	-	5	576	c.101C>T	c.(100-102)gCg>gTg	p.A34V	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'Flank	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	34					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCAGGATGCGCAATGCTACG	0.418													G|||	2	0.000399361	0	0	5008	,	,		18292	0		0	False		,,,				2504	0.002															0			1											113	115	114					1																	78098939		2203	4300	6503	77871527	SO:0001583	missense	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.101C>T	1.37:g.78098939G>A	ENSP00000359837:p.Ala34Val		77871527	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508513	0.85282	.	.	ENSG00000036549	ENST00000370801;ENST00000433749;ENST00000414381	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	T	0.75190	-0.3405	9	0.72032	D	0.01	.	19.6339	0.95722	0.0:0.0:1.0:0.0	.	34;34;34	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	V	34	.	ENSP00000359837:A34V	A	-	2	0	ZZZ3	77871527	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.701000	0.92244	0.650000	0.86243	GCG		0.418	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		A	78098939	G	A	78098939	3	1	338	1	0	0	0	0	1	0	0	0	18256	1087	38	1	2654	1	ZZZ3	1	78098939	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	6022218	78098939	171151682	6	18084											
AP4B1	10717	genome.wustl.edu	37	1	114438894	114438894	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:114438894A>G	ENST00000369569.1	-	8	1776	c.1496T>C	c.(1495-1497)tTg>tCg	p.L499S	AP4B1_ENST00000256658.4_Missense_Mutation_p.L499S|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.L331S	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	499					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGTAATACAACAAACGTCC	0.448																																																0			1											102	105	104					1																	114438894		2203	4300	6503	114240417	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1496T>C	1.37:g.114438894A>G	ENSP00000358582:p.Leu499Ser		114240417	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137128	0.77775	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.21932	1.98;1.98;1.98	6.04	6.04	0.98038	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.202998	0.43110	D	0.000610	T	0.47469	0.1447	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.996;0.997	T	0.57917	-0.7728	10	0.87932	D	0	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	499;331;499;400	B2RBF6;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	S	331;499;499	ENSP00000358580:L331S;ENSP00000358582:L499S;ENSP00000256658:L499S	ENSP00000256658:L499S	L	-	2	0	AP4B1	114240417	1.000000	0.71417	0.009000	0.14445	0.888000	0.51559	9.300000	0.96151	2.317000	0.78254	0.460000	0.39030	TTG		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		G	114438894	A	G	114438894	3	3	338	1	0	0	0	0	1	0	0	0	751	131	5	4	735	4	AP4B1	1	114438894	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	36339955	114438894	134811727	7	18085											
ANKRD35	148741	genome.wustl.edu	37	1	145560175	145560175	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:145560175G>A	ENST00000355594.4	+	8	748	c.661G>A	c.(661-663)Gat>Aat	p.D221N	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	221										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACAGGGCATGATGCTCTGCA	0.632																																					Melanoma(9;127 754 22988 51047)											0			1											75	70	72					1																	145560175		2203	4300	6503	144271532	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.661G>A	1.37:g.145560175G>A	ENSP00000347802:p.Asp221Asn		144271532	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981821	0.34942	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.52295	0.67	5.55	3.25	0.37280	Ankyrin repeat-containing domain (3);	0.246388	0.28393	N	0.015503	T	0.07593	0.0191	N	0.03177	-0.4	0.23396	N	0.997762	B	0.18013	0.025	B	0.20184	0.028	T	0.31503	-0.9941	10	0.19590	T	0.45	-10.4273	6.4684	0.21995	0.2651:0.0:0.7349:0.0	.	221	Q8N283	ANR35_HUMAN	N	130;221	ENSP00000347802:D221N	ENSP00000347802:D221N	D	+	1	0	ANKRD35	144271532	0.964000	0.33143	0.023000	0.16930	0.007000	0.05969	2.612000	0.46343	1.132000	0.42129	0.655000	0.94253	GAT		0.632	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145560175	G	A	145560175	3	1	338	1	0	0	0	0	1	0	0	0	664	1290	45	2	691	2	ANKRD35	1	145560175	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	31121281	145560175	103690446	8	18086											
GJA8	2703	genome.wustl.edu	37	1	147380442	147380442	+	Silent	SNP	T	T	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:147380442T>G	ENST00000369235.1	+	1	360	c.360T>G	c.(358-360)acT>acG	p.T120T	GJA8_ENST00000240986.4_Silent_p.T120T			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	120					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGCGGGGACTAACGGCGGCC	0.667																																					Melanoma(76;1255 1795 8195 52096)											0			1											45	51	49					1																	147380442		2203	4300	6503	145847066	SO:0001819	synonymous_variant	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.360T>G	1.37:g.147380442T>G			145847066	A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	CCDS30834.1																																																																																				0.667	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		G	147380442	T	G	147380442	2	3	338	1	0	0	0	0	0	0	0	1	6405	1509	53	5		5	GJA8	1	147380442	Silent	SNP	T	TCGA-29-1761-01A-01W-0633-09	1820267	147380442	101870179	9	18087											
FLG2	388698	genome.wustl.edu	37	1	152328055	152328055	+	Missense_Mutation	SNP	C	C	T	rs572992221		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:152328055C>T	ENST00000388718.5	-	3	2279	c.2207G>A	c.(2206-2208)gGa>gAa	p.G736E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	736	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCTGATCCATGTTGGCC	0.502													C|||	1	0.000199681	8e-04	0	5008	,	,		28408	0		0	False		,,,				2504	0															0			1											318	313	315					1																	152328055		2203	4300	6503	150594679	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2207G>A	1.37:g.152328055C>T	ENSP00000373370:p.Gly736Glu		150594679	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	6.876	0.531003	0.13127	.	.	ENSG00000143520	ENST00000388718	T	0.21031	2.03	4.98	4.07	0.47477	.	.	.	.	.	T	0.10680	0.0261	M	0.66939	2.045	0.09310	N	1	P	0.41673	0.759	B	0.43052	0.406	T	0.19289	-1.0310	9	0.25751	T	0.34	-1.5319	6.1764	0.20447	0.185:0.7188:0.0:0.0962	.	736	Q5D862	FILA2_HUMAN	E	736	ENSP00000373370:G736E	ENSP00000373370:G736E	G	-	2	0	FLG2	150594679	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	-0.018000	0.12568	1.075000	0.40932	0.511000	0.50034	GGA		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152328055	C	T	152328055	3	4	338	1	0	0	0	0	1	0	0	0	5923	855	30	2	4972	2	FLG2	1	152328055	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	4947613	152328055	96922566	10	18088											
COPA	1314	genome.wustl.edu	37	1	160293228	160293228	+	Silent	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:160293228G>T	ENST00000241704.7	-	8	928	c.699C>A	c.(697-699)cgC>cgA	p.R233R	Y_RNA_ENST00000365208.1_RNA|COPA_ENST00000368069.3_Silent_p.R233R	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	233					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCATTCATGCGCCAGATCT	0.488																																																0			1											97	81	86					1																	160293228		2203	4300	6503	158559852	SO:0001819	synonymous_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.699C>A	1.37:g.160293228G>T			158559852	Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	CCDS1202.1																																																																																				0.488	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		T	160293228	G	T	160293228	2	4	338	1	0	0	0	0	0	0	0	1	3727	1306	46	3		3	COPA	1	160293228	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	7965173	160293228	88957393	11	18089											
ILDR2	387597	genome.wustl.edu	37	1	166896322	166896322	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:166896322T>C	ENST00000271417.3	-	7	1031	c.976A>G	c.(976-978)Aga>Gga	p.R326G	ILDR2_ENST00000469934.2_Missense_Mutation_p.R326G|ILDR2_ENST00000526687.1_Missense_Mutation_p.R218G|ILDR2_ENST00000529071.1_Missense_Mutation_p.R307G|ILDR2_ENST00000528703.1_Missense_Mutation_p.R267G|ILDR2_ENST00000525740.1_Missense_Mutation_p.R199G|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	326					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTCATCCTTCTGGCTGGATCA	0.478																																																0			1											141	133	136					1																	166896322		2203	4300	6503	165162946	SO:0001583	missense	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.976A>G	1.37:g.166896322T>C	ENSP00000271417:p.Arg326Gly		165162946		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631359	0.67015	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;D;T;T;D;T	0.84442	-0.07;-1.83;0.04;-0.11;-1.85;-0.77	5.8	3.43	0.39272	.	0.267150	0.39834	N	0.001248	D	0.88224	0.6379	M	0.75264	2.295	0.32313	N	0.563524	D	0.76494	0.999	D	0.78314	0.991	D	0.87684	0.2549	10	0.87932	D	0	.	12.7538	0.57323	0.0:0.0:0.3978:0.6022	.	326	Q71H61	ILDR2_HUMAN	G	326;199;326;307;218;267	ENSP00000271417:R326G;ENSP00000436120:R199G;ENSP00000437008:R326G;ENSP00000436882:R307G;ENSP00000434273:R218G;ENSP00000432750:R267G	ENSP00000271417:R326G	R	-	1	2	ILDR2	165162946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.711000	0.25764	0.427000	0.26145	0.533000	0.62120	AGA		0.478	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		C	166896322	T	C	166896322	3	2	338	1	0	0	0	0	1	0	0	0	7710	1588	55	4	959	4	ILDR2	1	166896322	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	6603094	166896322	82354299	12	18090											
F5	2153	genome.wustl.edu	37	1	169515787	169515787	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:169515787T>A	ENST00000367797.3	-	11	1856	c.1655A>T	c.(1654-1656)gAt>gTt	p.D552V	F5_ENST00000546081.1_3'UTR|F5_ENST00000367796.3_Missense_Mutation_p.D552V	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	552	F5/8 type A 2.|Plastocyanin-like 4.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTTGTTCTCATCAAACACAGC	0.433																																																0			1											190	148	162					1																	169515787		2203	4300	6503	167782411	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1655A>T	1.37:g.169515787T>A	ENSP00000356771:p.Asp552Val		167782411	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	t	27.3	4.822920	0.90873	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99298	-5.71;-5.71	6.17	6.17	0.99709	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	H	0.94658	3.565	0.47065	D	0.999300	D	0.89917	1.0	D	0.91635	0.999	D	0.97837	1.0266	9	0.87932	D	0	-27.2616	16.8222	0.85835	0.0:0.0:0.0:1.0	.	552	P12259	FA5_HUMAN	V	552	ENSP00000356771:D552V;ENSP00000356770:D552V	ENSP00000356770:D552V	D	-	2	0	F5	167782411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.552000	0.82192	2.371000	0.80710	0.533000	0.62120	GAT		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169515787	T	A	169515787	3	1	338	1	0	0	0	0	1	0	0	0	5348	1435	50	5	5079	5	F5	1	169515787	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	2619465	169515787	79734834	13	18091											
PAPPA2	60676	genome.wustl.edu	37	1	176740242	176740242	+	Silent	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:176740242C>T	ENST00000367662.3	+	17	5805	c.4641C>T	c.(4639-4641)gaC>gaT	p.D1547D		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1547	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACAACCACGACGTGGGCACCA	0.498																																																0			1											120	113	115					1																	176740242		2066	4213	6279	175006865	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4641C>T	1.37:g.176740242C>T			175006865	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				0.498	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176740242	C	T	176740242	2	4	338	1	0	0	0	0	0	0	0	1	11433	535	19	1		1	PAPPA2	1	176740242	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	7224455	176740242	72510379	14	18092											
CFH	3075	genome.wustl.edu	37	1	196712736	196712736	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:196712736G>T	ENST00000367429.4	+	20	3528	c.3288G>T	c.(3286-3288)tgG>tgT	p.W1096C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1096	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGAAACTGGACGGAACCAC	0.358																																																0			1											252	243	246					1																	196712736		2203	4300	6503	194979359	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3288G>T	1.37:g.196712736G>T	ENSP00000356399:p.Trp1096Cys		194979359	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	12.97	2.096256	0.36952	.	.	ENSG00000000971	ENST00000367429	D	0.92805	-3.11	4.96	4.03	0.46877	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.94430	0.8208	H	0.97983	4.12	0.80722	D	1	P	0.35124	0.485	B	0.32022	0.139	D	0.94169	0.7421	9	0.87932	D	0	.	11.9756	0.53089	0.0:0.0:0.826:0.174	.	1096	P08603	CFAH_HUMAN	C	1096	ENSP00000356399:W1096C	ENSP00000356399:W1096C	W	+	3	0	CFH	194979359	1.000000	0.71417	0.994000	0.49952	0.366000	0.29705	5.186000	0.65082	1.197000	0.43143	0.455000	0.32223	TGG		0.358	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		T	196712736	G	T	196712736	3	4	338	1	0	0	0	0	1	0	0	0	3283	1183	41	3	3384	3	CFH	1	196712736	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	19972494	196712736	52537885	15	18093											
AVPR1B	553	genome.wustl.edu	37	1	206225087	206225087	+	Missense_Mutation	SNP	C	C	T	rs200893536	byFrequency	TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:206225087C>T	ENST00000367126.4	+	1	1112	c.647C>T	c.(646-648)aCg>aTg	p.T216M	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	216					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACCATGCTCACGGCCTGCTAC	0.612													C|||	2	0.000399361	0	0	5008	,	,		16735	0.001		0.001	False		,,,				2504	0															0			1											53	53	53					1																	206225087		2199	4296	6495	204391710	SO:0001583	missense	553			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.647C>T	1.37:g.206225087C>T	ENSP00000356094:p.Thr216Met		204391710	B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	CCDS30994.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.49	1.365873	0.24684	.	.	ENSG00000198049	ENST00000367126	T	0.72394	-0.65	5.66	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.249318	0.35555	N	0.003130	T	0.63260	0.2496	L	0.48877	1.53	0.32970	D	0.522166	B	0.30193	0.272	B	0.33521	0.165	T	0.70360	-0.4893	10	0.40728	T	0.16	-9.6728	10.6495	0.45640	0.0:0.7689:0.0:0.2311	.	216	P47901	V1BR_HUMAN	M	216	ENSP00000356094:T216M	ENSP00000356094:T216M	T	+	2	0	AVPR1B	204391710	0.825000	0.29262	0.926000	0.36857	0.754000	0.42855	1.556000	0.36288	1.396000	0.46663	0.563000	0.77884	ACG		0.612	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		T	206225087	C	T	206225087	3	4	338	1	0	0	0	0	1	0	0	0	1232	536	19	1	649	1	AVPR1B	1	206225087	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	9512351	206225087	43025534	16	18094											
PROX1	5629	genome.wustl.edu	37	1	214170872	214170875	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	AAAG	AAAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:214170872_214170875delAAAG	ENST00000366958.4	+	2	1602_1605	c.994_997delAAAG	c.(994-999)aaagaafs	p.KE332fs	PROX1_ENST00000261454.4_Frame_Shift_Del_p.KE332fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.KE332fs|PROX1_ENST00000498508.2_Frame_Shift_Del_p.KE332fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	332					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGGCAACAACAAAGAAAGAGACCA	0.505																																																0			1																																								212237498	SO:0001589	frameshift_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.994_997delAAAG	1.37:g.214170876_214170879delAAAG	ENSP00000355925:p.Lys332fs		212237495	A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Del	DEL	ENST00000366958.4	37	CCDS31021.1																																																																																				0.505	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		-	214170875	AAAG	-	214170872	7	5	338	1	0	1	0	1	0	0	0	0	12563	131	5	0	996	0	PROX1	1	214170872	Frame_Shift_Del	DEL	AAAG	TCGA-29-1761-01A-01W-0633-09	7945785	214170872	35079749	17	18095											
KCNK2	3776	genome.wustl.edu	37	1	215342541	215342541	+	Splice_Site	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:215342541G>T	ENST00000444842.2	+	4	625		c.e4-1		KCNK2_ENST00000391894.2_Splice_Site|KCNK2_ENST00000391895.2_Splice_Site	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2						G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TTTTTTTAAAGGATTTGGAAA	0.333																																																0			1											90	94	92					1																	215342541		2202	4300	6502	213409164	SO:0001630	splice_region_variant	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.476-1G>T	1.37:g.215342541G>T			213409164	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Splice_Site	SNP	ENST00000444842.2	37	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412923	0.83449	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNK2	213409164	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	.		0.333	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217	Intron	T	215342541	G	T	215342541	5	4	338	1	0	0	0	0	0	0	1	0	8066	1014	35	3	532	3	KCNK2	1	215342541	Splice_Site	SNP	G	TCGA-29-1761-01A-01W-0633-09	1171669	215342541	33908080	18	18096											
ACTN2	88	genome.wustl.edu	37	1	236882206	236882206	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:236882206C>A	ENST00000366578.4	+	3	420	c.254C>A	c.(253-255)cCc>cAc	p.P85H	ACTN2_ENST00000542672.1_Missense_Mutation_p.P85H|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	85	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAAAGGCTGCCCAAACCTGAC	0.453																																																0			1											106	102	104					1																	236882206		2203	4300	6503	234948829	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.254C>A	1.37:g.236882206C>A	ENSP00000355537:p.Pro85His		234948829	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754200	0.89843	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	D;D	0.95205	-3.64;-3.64	5.56	5.56	0.83823	Calponin homology domain (5);	0.095525	0.85682	D	0.000000	D	0.97598	0.9213	M	0.90145	3.09	0.80722	D	1	D;P	0.59357	0.985;0.885	P;P	0.62813	0.907;0.499	D	0.98115	1.0422	10	0.87932	D	0	.	18.6602	0.91469	0.0:1.0:0.0:0.0	.	85;85	B2RCS5;P35609	.;ACTN2_HUMAN	H	85	ENSP00000443495:P85H;ENSP00000355537:P85H	ENSP00000355537:P85H	P	+	2	0	ACTN2	234948829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.571000	0.82399	2.775000	0.95449	0.655000	0.94253	CCC		0.453	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		A	236882206	C	A	236882206	3	1	338	1	0	0	0	0	1	0	0	0	205	623	22	3	264	3	ACTN2	1	236882206	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	21539665	236882206	12368415	19	18097											
RYR2	6262	genome.wustl.edu	37	1	237837458	237837458	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr1:237837458G>C	ENST00000366574.2	+	59	8970	c.8653G>C	c.(8653-8655)Gat>Cat	p.D2885H	RYR2_ENST00000360064.6_Missense_Mutation_p.D2883H|RYR2_ENST00000542537.1_Missense_Mutation_p.D2869H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2885	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAAGCCAAGGATAGAGAAAA	0.428																																																0			1											108	106	107					1																	237837458		1965	4157	6122	235904081	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8653G>C	1.37:g.237837458G>C	ENSP00000355533:p.Asp2885His		235904081	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130165	0.77549	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92858	-3.12;-3.12;-3.12	5.32	5.32	0.75619	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000005	D	0.95796	0.8632	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95648	0.8704	10	0.54805	T	0.06	.	19.0098	0.92868	0.0:0.0:1.0:0.0	.	2885	Q92736	RYR2_HUMAN	H	2885;2883;2869	ENSP00000355533:D2885H;ENSP00000353174:D2883H;ENSP00000443798:D2869H	ENSP00000353174:D2883H	D	+	1	0	RYR2	235904081	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.852000	0.86927	2.483000	0.83821	0.557000	0.71058	GAT		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237837458	G	C	237837458	3	2	338	1	0	0	0	0	1	0	0	0	13772	1174	41	3	8887	3	RYR2	1	237837458	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	955252	237837458	11413163	20	18098											
MATN3	4148	genome.wustl.edu	37	2	20206050	20206050	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:20206050A>C	ENST00000407540.3	-	2	307	c.245T>G	c.(244-246)tTg>tGg	p.L82W	MATN3_ENST00000421259.2_Missense_Mutation_p.L82W|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	82					extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCAGGTCCAAGGGTCTGCT	0.458																																																0			2											22	22	22					2																	20206050		1925	4136	6061	20069531	SO:0001583	missense	4148			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.245T>G	2.37:g.20206050A>C	ENSP00000383894:p.Leu82Trp		20069531	B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.183118	0.78677	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	T;T	0.80738	-1.41;-1.41	5.93	5.93	0.95920	von Willebrand factor, type A (1);	0.139707	0.47852	D	0.000215	D	0.90184	0.6932	M	0.82433	2.59	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.77557	0.981;0.99	D	0.91391	0.5135	10	0.72032	D	0.01	-18.9431	15.5755	0.76380	1.0:0.0:0.0:0.0	.	82;82	B2CPU0;O15232	.;MATN3_HUMAN	W	82	ENSP00000383894:L82W;ENSP00000398753:L82W	ENSP00000383894:L82W	L	-	2	0	MATN3	20069531	0.977000	0.34250	0.970000	0.41538	0.696000	0.40369	9.297000	0.96120	2.281000	0.76405	0.533000	0.62120	TTG		0.458	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		C	20206050	A	C	20206050	3	2	338	1	0	0	0	0	1	0	0	0	9335	131	5	5	1243	5	MATN3	2	20206050	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09		20206050	222993323	21	18099											
PUM2	23369	genome.wustl.edu	37	2	20490532	20490532	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:20490532C>G	ENST00000361078.2	-	9	1194	c.1172G>C	c.(1171-1173)gGt>gCt	p.G391A	PUM2_ENST00000319801.5_Missense_Mutation_p.G391A|PUM2_ENST00000403432.1_Missense_Mutation_p.G391A|PUM2_ENST00000536417.1_Missense_Mutation_p.G335A|PUM2_ENST00000338086.5_Missense_Mutation_p.G391A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	391	Ala-rich.|Gln-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGACGCTGACCTGCTCCAGC	0.413																																																0			2											65	59	61					2																	20490532		2203	4300	6503	20354013	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1172G>C	2.37:g.20490532C>G	ENSP00000354370:p.Gly391Ala		20354013	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	C	12.58	1.981547	0.34942	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.19669	2.16;2.42;2.5;2.22;2.16;2.13	5.26	4.38	0.52667	.	0.178473	0.64402	D	0.000014	T	0.08891	0.0220	N	0.03608	-0.345	0.25780	N	0.984737	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.10450	0.001;0.005;0.003	T	0.28776	-1.0033	10	0.11485	T	0.65	-6.31	12.0611	0.53562	0.128:0.733:0.139:0.0	.	335;391;391	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	A	391;391;391;282;391;335	ENSP00000338173:G391A;ENSP00000354370:G391A;ENSP00000326746:G391A;ENSP00000409905:G282A;ENSP00000385992:G391A;ENSP00000440093:G335A	ENSP00000326746:G391A	G	-	2	0	PUM2	20354013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.088000	0.50175	1.336000	0.45506	0.591000	0.81541	GGT		0.413	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		G	20490532	C	G	20490532	3	3	338	1	0	0	0	0	1	0	0	0	12829	507	18	3	2070	3	PUM2	2	20490532	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	284482	20490532	222708841	22	18100											
APOB	338	genome.wustl.edu	37	2	21233086	21233086	+	Silent	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:21233086G>A	ENST00000233242.1	-	26	6781	c.6654C>T	c.(6652-6654)atC>atT	p.I2218I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2218				I -> T (in Ref. 4; AAB04636). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTTACACGGATATGATAGT	0.254																																																0			2											33	35	34					2																	21233086		2200	4291	6491	21086591	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6654C>T	2.37:g.21233086G>A			21086591	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.254	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21233086	G	A	21233086	2	1	338	1	0	0	0	0	0	0	0	1	785	1164	41	2		2	APOB	2	21233086	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	742554	21233086	221966287	23	18101											
EHD3	30845	genome.wustl.edu	37	2	31489355	31489355	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:31489355G>C	ENST00000322054.5	+	6	1678	c.1393G>C	c.(1393-1395)Gct>Cct	p.A465P	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	465	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GATCACAGGCGCTAATGCCAA	0.562																																																0			2											106	88	94					2																	31489355		2203	4300	6503	31342859	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1393G>C	2.37:g.31489355G>C	ENSP00000327116:p.Ala465Pro		31342859	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974448	0.74246	.	.	ENSG00000013016	ENST00000322054	T	0.31247	1.5	5.71	5.71	0.89125	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.044640	0.85682	D	0.000000	T	0.50905	0.1643	L	0.59436	1.845	0.80722	D	1	D	0.53619	0.961	P	0.59643	0.861	T	0.37454	-0.9705	10	0.45353	T	0.12	-17.9785	19.8586	0.96775	0.0:0.0:1.0:0.0	.	465	Q9NZN3	EHD3_HUMAN	P	465	ENSP00000327116:A465P	ENSP00000327116:A465P	A	+	1	0	EHD3	31342859	1.000000	0.71417	0.947000	0.38551	0.991000	0.79684	8.004000	0.88535	2.701000	0.92244	0.462000	0.41574	GCT		0.562	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		C	31489355	G	C	31489355	3	2	338	1	0	0	0	0	1	0	0	0	4979	1087	38	3	1415	3	EHD3	2	31489355	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	10256269	31489355	211710018	24	18102											
SPTBN1	6711	genome.wustl.edu	37	2	54785974	54785974	+	Intron	SNP	A	A	C	rs143125321		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:54785974A>C	ENST00000356805.4	+	2	429				SPTBN1_ENST00000333896.5_Missense_Mutation_p.Q20P	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TACACGGGGCAGGTGCCTTAC	0.627																																																0			2											80	84	83					2																	54785974		2203	4300	6503	54639478	SO:0001627	intron_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.148+32271A>C	2.37:g.54785974A>C			54639478	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.546231	0.45383	.	.	ENSG00000115306	ENST00000333896	T	0.70045	-0.45	5.01	5.01	0.66863	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.26151	N	0.980142	B	0.02656	0.0	B	0.01281	0.0	T	0.52909	-0.8512	8	0.56958	D	0.05	.	11.3955	0.49838	0.8487:0.1513:0.0:0.0	.	20	Q01082-3	.	P	20	ENSP00000334156:Q20P	ENSP00000334156:Q20P	Q	+	2	0	SPTBN1	54639478	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.686000	0.61700	1.864000	0.54056	0.459000	0.35465	CAG		0.627	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			C	54785974	A	C	54785974	1	2	338	0	1	0	0	0	0	0	0	0	15121	188	7	5		5	SPTBN1	2	54785974	Intron	SNP	A	TCGA-29-1761-01A-01W-0633-09	23296619	54785974	188413399	25	18103											
FAM161A	84140	genome.wustl.edu	37	2	62067425	62067425	+	Silent	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:62067425T>A	ENST00000405894.3	-	3	815	c.714A>T	c.(712-714)gtA>gtT	p.V238V	FAM161A_ENST00000404929.1_Silent_p.V238V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	238					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGGCTCCGGTACTGTAATTG	0.368																																																0			2											151	135	140					2																	62067425		1840	4083	5923	61920929	SO:0001819	synonymous_variant	84140				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.714A>T	2.37:g.62067425T>A			61920929	B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	CCDS42687.2																																																																																				0.368	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		A	62067425	T	A	62067425	2	1	338	1	0	0	0	0	0	0	0	1	5472	1625	57	5		5	FAM161A	2	62067425	Silent	SNP	T	TCGA-29-1761-01A-01W-0633-09	7281451	62067425	181131948	26	18104											
TEKT4	150483	genome.wustl.edu	37	2	95537487	95537487	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:95537487G>A	ENST00000295201.4	+	1	300	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	TEKT4_ENST00000427593.2_Missense_Mutation_p.A55T|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	55					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTACCACCAGGCCTTCGCCGA	0.687																																																0			2											29	35	33					2																	95537487		2185	4248	6433	94901214	SO:0001583	missense	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.163G>A	2.37:g.95537487G>A	ENSP00000295201:p.Ala55Thr		94901214		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	18.59	3.656459	0.67586	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.03004	4.08;4.08	1.97	0.85	0.18980	.	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	M	0.83312	2.635	0.51767	D	0.999936	D	0.67145	0.996	D	0.70935	0.971	T	0.01378	-1.1370	10	0.56958	D	0.05	-11.3315	7.1629	0.25675	0.0:0.0:0.7373:0.2627	.	55	Q8WW24	TEKT4_HUMAN	T	55	ENSP00000295201:A55T;ENSP00000407596:A55T	ENSP00000295201:A55T	A	+	1	0	TEKT4	94901214	1.000000	0.71417	0.997000	0.53966	0.643000	0.38383	3.553000	0.53713	1.094000	0.41399	0.558000	0.71614	GCC		0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		A	95537487	G	A	95537487	3	1	338	1	0	0	0	0	1	0	0	0	15755	1203	42	2	165	2	TEKT4	2	95537487	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	33470062	95537487	147661886	27	18105											
CNGA3	1261	genome.wustl.edu	37	2	99013682	99013682	+	Silent	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:99013682C>T	ENST00000272602.2	+	7	2088	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	CNGA3_ENST00000436404.2_Silent_p.P665P|CNGA3_ENST00000393504.1_Silent_p.P683P|CNGA3_ENST00000409937.1_Silent_p.P687P			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	683					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGAAGTTCCCGGGGATGCTA	0.557																																																0			2																																								98380114	SO:0001819	synonymous_variant	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.2049C>T	2.37:g.99013682C>T			98380114	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	CCDS2034.1																																																																																				0.557	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		T	99013682	C	T	99013682	2	4	338	1	0	0	0	0	0	0	0	1	3598	639	23	1		1	CNGA3	2	99013682	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	3476195	99013682	144185691	28	18106											
INSIG2	51141	genome.wustl.edu	37	2	118864312	118864312	+	Splice_Site	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:118864312G>T	ENST00000245787.4	+	4	575		c.e4-1		INSIG2_ENST00000485520.1_Splice_Site	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2						cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACTGATCTCAGAAAGTGGATT	0.368																																																0			2											140	129	133					2																	118864312		2203	4300	6503	118580782	SO:0001630	splice_region_variant	51141			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.370-1G>T	2.37:g.118864312G>T			118580782	A8K5W8|Q8TBI8	Splice_Site	SNP	ENST00000245787.4	37	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259981	0.59321	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.981	0.92755	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INSIG2	118580782	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.202000	0.95026	2.717000	0.92951	0.585000	0.79938	.		0.368	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133	Intron	T	118864312	G	T	118864312	5	4	338	1	0	0	0	0	0	0	1	0	7766	956	33	3	379	3	INSIG2	2	118864312	Splice_Site	SNP	G	TCGA-29-1761-01A-01W-0633-09	19850630	118864312	124335061	29	18107											
ZEB2	9839	genome.wustl.edu	37	2	145162423	145162423	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:145162423G>C	ENST00000558170.2	-	5	1756	c.572C>G	c.(571-573)gCc>gGc	p.A191G	ZEB2_ENST00000409487.3_Missense_Mutation_p.A191G|ZEB2_ENST00000539609.3_Missense_Mutation_p.A167G|ZEB2_ENST00000303660.4_Missense_Mutation_p.A191G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	191					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGCCCATTGGCCTCTGGCGT	0.512																																					Melanoma(33;1235 1264 5755 16332)											0			2											57	50	52					2																	145162423		2203	4300	6503	144878893	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.572C>G	2.37:g.145162423G>C	ENSP00000454157:p.Ala191Gly		144878893	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.737013|2.737013	0.49045|0.49045	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000431672	D;D;D;D;D|.	0.81499|.	-1.5;-1.5;-1.5;-1.5;-1.5|.	5.62|5.62	4.73|4.73	0.59995|0.59995	.|.	0.048979|.	0.85682|.	D|.	0.000000|.	T|T	0.51534|0.51534	0.1680|0.1680	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	P;P;B;B|.	0.47545|.	0.897;0.487;0.149;0.149|.	P;B;B;B|.	0.48089|.	0.566;0.229;0.086;0.086|.	T|T	0.42032|0.42032	-0.9475|-0.9475	10|5	0.72032|.	D|.	0.01|.	-8.6837|-8.6837	14.2952|14.2952	0.66308|0.66308	0.0715:0.0:0.9285:0.0|0.0715:0.0:0.9285:0.0	.|.	167;56;190;191|.	F5H814;Q53TD9;A0JP08;O60315|.	.;.;.;ZEB2_HUMAN|.	G|A	186;167;191;191;191;191|157	ENSP00000443792:A167G;ENSP00000302501:A191G;ENSP00000386854:A191G;ENSP00000395496:A191G;ENSP00000376601:A191G|.	ENSP00000302501:A191G|.	A|P	-|-	2|1	0|0	ZEB2|ZEB2	144878893|144878893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	6.741000|6.741000	0.74837|0.74837	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.512	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		C	145162423	G	C	145162423	3	2	338	1	0	0	0	0	1	0	0	0	17624	1203	42	3	3096	3	ZEB2	2	145162423	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	26298111	145162423	98036950	30	18108											
RIF1	55183	genome.wustl.edu	37	2	152322281	152322281	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:152322281A>T	ENST00000243326.5	+	29	6730	c.6247A>T	c.(6247-6249)Aat>Tat	p.N2083Y	RIF1_ENST00000430328.2_Missense_Mutation_p.N2083Y|RIF1_ENST00000453091.2_Missense_Mutation_p.N2083Y|RIF1_ENST00000444746.2_Missense_Mutation_p.N2083Y|RIF1_ENST00000428287.2_Missense_Mutation_p.N2083Y			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATTGACGCTAATAAAACTGA	0.333																																																0			2											71	71	71					2																	152322281		2203	4300	6503	152030527	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6247A>T	2.37:g.152322281A>T	ENSP00000243326:p.Asn2083Tyr		152030527	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585718	0.28268	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	4.77	1.09	0.20402	.	1.454800	0.03650	N	0.240849	T	0.06962	0.0177	N	0.19112	0.55	0.09310	N	1	B;B	0.30439	0.183;0.279	B;B	0.26969	0.034;0.075	T	0.32929	-0.9888	10	0.54805	T	0.06	-0.015	1.0854	0.01651	0.5134:0.1587:0.1745:0.1533	.	2083;2083	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	Y	2083	ENSP00000390181:N2083Y;ENSP00000414615:N2083Y;ENSP00000415691:N2083Y;ENSP00000243326:N2083Y;ENSP00000416123:N2083Y	ENSP00000243326:N2083Y	N	+	1	0	RIF1	152030527	0.000000	0.05858	0.002000	0.10522	0.100000	0.18952	-0.494000	0.06451	0.354000	0.24105	0.528000	0.53228	AAT		0.333	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			T	152322281	A	T	152322281	3	4	338	1	0	0	0	0	1	0	0	0	13362	362	13	5	6361	5	RIF1	2	152322281	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	7159858	152322281	90877092	31	18109											
IFIH1	64135	genome.wustl.edu	37	2	163144770	163144770	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:163144770T>A	ENST00000263642.2	-	5	1365	c.970A>T	c.(970-972)Aat>Tat	p.N324Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	324	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATGATGATATTCTTCCCTTCC	0.498																																																0			2											105	100	102					2																	163144770		2203	4300	6503	162853016	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.970A>T	2.37:g.163144770T>A	ENSP00000263642:p.Asn324Tyr		162853016	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737520	0.89482	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.37411	1.2	5.92	5.92	0.95590	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82474	-0.0439	10	0.87932	D	0	-32.9991	16.3655	0.83319	0.0:0.0:0.0:1.0	.	324	Q9BYX4	IFIH1_HUMAN	Y	324	ENSP00000263642:N324Y	ENSP00000263642:N324Y	N	-	1	0	IFIH1	162853016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.694000	0.84235	2.257000	0.74773	0.455000	0.32223	AAT		0.498	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		A	163144770	T	A	163144770	3	1	338	1	0	0	0	0	1	0	0	0	7520	1783	62	5	2155	5	IFIH1	2	163144770	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	10822489	163144770	80054603	32	18110											
GPR155	151556	genome.wustl.edu	37	2	175346663	175346663	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:175346663C>G	ENST00000392552.2	-	2	260	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	GPR155_ENST00000392551.2_Missense_Mutation_p.E8Q|GPR155_ENST00000295500.4_Missense_Mutation_p.E8Q	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	8					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GTTAAGTTCTCTGCAGGTAAA	0.393																																																0			2											144	144	144					2																	175346663		2203	4300	6503	175054909	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.22G>C	2.37:g.175346663C>G	ENSP00000376335:p.Glu8Gln		175054909	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845985	0.32606	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.44083	0.93;0.93;0.93	5.79	-0.0408	0.13870	.	0.785897	0.12425	N	0.470115	T	0.21590	0.0520	N	0.08118	0	0.21697	N	0.999589	B	0.15473	0.013	B	0.16289	0.015	T	0.20605	-1.0270	10	0.56958	D	0.05	0.052	8.434	0.32775	0.0:0.2734:0.0:0.7266	.	8	Q7Z3F1	GP155_HUMAN	Q	8	ENSP00000376335:E8Q;ENSP00000376334:E8Q;ENSP00000295500:E8Q	ENSP00000295500:E8Q	E	-	1	0	GPR155	175054909	0.129000	0.22400	0.915000	0.36163	0.540000	0.34992	0.011000	0.13264	0.049000	0.15920	0.655000	0.94253	GAG		0.393	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		G	175346663	C	G	175346663	3	3	338	1	0	0	0	0	1	0	0	0	6660	922	32	3	2650	3	GPR155	2	175346663	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	12201893	175346663	67852710	33	18111											
TTN	7273	genome.wustl.edu	37	2	179425763	179425763	+	Missense_Mutation	SNP	C	C	T	rs367800789		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:179425763C>T	ENST00000591111.1	-	276	80397	c.80173G>A	c.(80173-80175)Gtt>Att	p.V26725I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V28366I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19301I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V19426I|TTN_ENST00000342175.6_Missense_Mutation_p.V19493I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V25798I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26725	Ig-like 128.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAACAATAACGTCTCGGAAC	0.443																																																0			2						C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,3866		0,0,1933	181	172	175		58477,58276,77392,57901	2.7	0.1	2		175	1,8255		0,1,4127	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,1,6060	TT,TC,CC		0.0121,0.0,0.0082	benign,benign,benign,benign	19493/27119,19426/27052,25798/33424,19301/26927	179425763	1,12121	1933	4128	6061	179134009	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80173G>A	2.37:g.179425763C>T	ENSP00000465570:p.Val26725Ile		179134009	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.01	3.000898	0.54254	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.97	2.72	0.32119	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40297	0.1111	M	0.62016	1.91	0.34288	D	0.682904	B;B;B;B	0.13594	0.008;0.008;0.008;0.008	B;B;B;B	0.12156	0.007;0.007;0.007;0.005	T	0.52472	-0.8571	9	0.87932	D	0	.	10.5641	0.45163	0.0:0.7498:0.1138:0.1364	.	19301;19426;19493;26725	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	25798;19301;19493;19426;19299	ENSP00000343764:V25798I;ENSP00000434586:V19301I;ENSP00000340554:V19493I;ENSP00000352154:V19426I	ENSP00000340554:V19493I	V	-	1	0	TTN	179134009	0.033000	0.19621	0.053000	0.19242	0.232000	0.25224	0.625000	0.24477	0.834000	0.34852	0.655000	0.94253	GTT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179425763	C	T	179425763	3	4	338	1	0	0	0	0	1	0	0	0	16735	536	19	1	23031	1	TTN	2	179425763	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	4079100	179425763	63773610	34	18112											
TTN	7273	genome.wustl.edu	37	2	179476676	179476676	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:179476676A>C	ENST00000591111.1	-	218	45661	c.45437T>G	c.(45436-45438)gTc>gGc	p.V15146G	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V16787G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V7722G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V7847G|TTN_ENST00000342175.6_Missense_Mutation_p.V7914G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V14219G			Q8WZ42	TITIN_HUMAN	titin	15146	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTCAATGACATATCTATT	0.353																																																0			2											76	68	70					2																	179476676		1848	4112	5960	179184921	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45437T>G	2.37:g.179476676A>C	ENSP00000465570:p.Val15146Gly		179184921	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	7.704	0.693787	0.15039	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63212	0.2492	M	0.83118	2.625	0.80722	D	1	B;B;B;B	0.25048	0.117;0.117;0.117;0.117	B;B;B;B	0.33295	0.065;0.065;0.119;0.161	T	0.64643	-0.6359	9	0.87932	D	0	.	16.6127	0.84892	1.0:0.0:0.0:0.0	.	7722;7847;7914;15146	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	14219;7722;7914;7847;7722	ENSP00000343764:V14219G;ENSP00000434586:V7722G;ENSP00000340554:V7914G;ENSP00000352154:V7847G	ENSP00000340554:V7914G	V	-	2	0	TTN	179184921	1.000000	0.71417	0.966000	0.40874	0.434000	0.31775	5.989000	0.70587	2.322000	0.78497	0.528000	0.53228	GTC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179476676	A	C	179476676	3	2	338	1	0	0	0	0	1	0	0	0	16735	275	10	5	57713	5	TTN	2	179476676	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	50913	179476676	63722697	35	18113											
TTN	7273	genome.wustl.edu	37	2	179496983	179496983	+	Silent	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:179496983G>A	ENST00000591111.1	-	186	38939	c.38715C>T	c.(38713-38715)gaC>gaT	p.D12905D	TTN_ENST00000589042.1_Silent_p.D14546D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.D5481D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.D5606D|TTN_ENST00000342175.6_Silent_p.D5673D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.D11978D			Q8WZ42	TITIN_HUMAN	titin	12905					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCCCTTCGTCTTGCATTG	0.433																																																0			2											123	112	115					2																	179496983		1939	4155	6094	179205228	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38715C>T	2.37:g.179496983G>A			179205228	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179496983	G	A	179496983	2	1	338	1	0	0	0	0	0	0	0	1	16735	1136	40	1		1	TTN	2	179496983	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	20307	179496983	63702390	36	18114											
NCKAP1	10787	genome.wustl.edu	37	2	183795490	183795490	+	Silent	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:183795490T>C	ENST00000361354.4	-	27	3258	c.2886A>G	c.(2884-2886)tcA>tcG	p.S962S	NCKAP1_ENST00000360982.2_Silent_p.S968S|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	962					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CGGCAGCTGATGATAACTCAT	0.333																																																0			2											66	64	65					2																	183795490		2203	4300	6503	183503735	SO:0001819	synonymous_variant	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2886A>G	2.37:g.183795490T>C			183503735	O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	CCDS2287.1																																																																																				0.333	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		C	183795490	T	C	183795490	2	2	338	1	0	0	0	0	0	0	0	1	10221	1451	51	4		4	NCKAP1	2	183795490	Silent	SNP	T	TCGA-29-1761-01A-01W-0633-09	4298507	183795490	59403883	37	18115											
FSIP2	401024	genome.wustl.edu	37	2	186671332	186671332	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:186671332A>G	ENST00000424728.1	+	17	17299	c.17299A>G	c.(17299-17301)Aaa>Gaa	p.K5767E	FSIP2_ENST00000343098.5_Missense_Mutation_p.K5856E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5767										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAACCCAGTAAACCAGATGA	0.348																																																0			2											75	70	72					2																	186671332		1809	4067	5876	186379577	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17299A>G	2.37:g.186671332A>G	ENSP00000401306:p.Lys5767Glu		186379577	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	A	16.10	3.027987	0.54790	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.49432	0.78;0.78	4.83	3.68	0.42216	.	.	.	.	.	T	0.33585	0.0868	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.22695	-1.0209	7	0.15066	T	0.55	.	7.0293	0.24958	0.8977:0.0:0.1023:0.0	.	.	.	.	E	5856;5767	ENSP00000344403:K5856E;ENSP00000401306:K5767E	ENSP00000344403:K5856E	K	+	1	0	FSIP2	186379577	0.002000	0.14202	0.005000	0.12908	0.149000	0.21700	1.033000	0.30191	0.867000	0.35654	0.482000	0.46254	AAA		0.348	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		G	186671332	A	G	186671332	3	3	338	1	0	0	0	0	1	0	0	0	6075	363	13	4	17632	4	FSIP2	2	186671332	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	2875842	186671332	56528041	38	18116											
CPO	130749	genome.wustl.edu	37	2	207804356	207804356	+	Silent	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:207804356G>A	ENST00000272852.3	+	1	79	c.33G>A	c.(31-33)ttG>ttA	p.L11L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	11						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TTTATCTTTTGGGGATGCTGG	0.418																																																0			2											165	164	164					2																	207804356		2203	4300	6503	207512601	SO:0001819	synonymous_variant	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.33G>A	2.37:g.207804356G>A			207512601	Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	CCDS2372.1																																																																																				0.418	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		A	207804356	G	A	207804356	2	1	338	1	0	0	0	0	0	0	0	1	3820	1339	47	2		2	CPO	2	207804356	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	21133024	207804356	35395017	39	18117											
GBX2	2637	genome.wustl.edu	37	2	237074829	237074829	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr2:237074829G>C	ENST00000306318.4	-	2	1172	c.775C>G	c.(775-777)Ctg>Gtg	p.L259V	GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	259					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AGCTCCAGCAGCTGCTCGCTG	0.662																																																0			2											37	43	41					2																	237074829		2203	4300	6503	236739568	SO:0001583	missense	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.775C>G	2.37:g.237074829G>C	ENSP00000302251:p.Leu259Val		236739568	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500203	0.85176	.	.	ENSG00000168505	ENST00000306318	D	0.97066	-4.23	4.42	4.42	0.53409	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000006	D	0.97636	0.9225	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97742	1.0209	10	0.41790	T	0.15	-15.5736	17.0285	0.86454	0.0:0.0:1.0:0.0	.	259	P52951	GBX2_HUMAN	V	259	ENSP00000302251:L259V	ENSP00000302251:L259V	L	-	1	2	GBX2	236739568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.871000	0.87180	2.013000	0.59113	0.561000	0.74099	CTG		0.662	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		C	237074829	G	C	237074829	3	2	338	1	0	0	0	0	1	0	0	0	6281	962	34	3	275	3	GBX2	2	237074829	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	29270473	237074829	6124544	40	18118											
TRANK1	9881	genome.wustl.edu	37	3	36874172	36874172	+	Missense_Mutation	SNP	C	C	G	rs533442931		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr3:36874172C>G	ENST00000429976.2	-	21	7017	c.6770G>C	c.(6769-6771)cGg>cCg	p.R2257P	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1707P|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1707P	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2257							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTGTAGAACCGGAAGGATTT	0.453																																																0			3											90	88	89					3																	36874172		1846	4091	5937	36849176	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6770G>C	3.37:g.36874172C>G	ENSP00000416168:p.Arg2257Pro		36849176	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	9.906	1.208143	0.22205	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.30714	1.52;1.93;1.52	4.92	4.03	0.46877	.	0.184033	0.26224	N	0.025614	T	0.25419	0.0618	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	P	0.50659	0.647	T	0.10917	-1.0609	10	0.56958	D	0.05	.	4.9064	0.13800	0.0:0.6924:0.0:0.3076	.	2257	O15050	TRNK1_HUMAN	P	1707;2257;1707	ENSP00000416826:R1707P;ENSP00000416168:R2257P;ENSP00000301807:R1707P	ENSP00000301807:R1707P	R	-	2	0	TRANK1	36849176	0.165000	0.22948	0.119000	0.21687	0.116000	0.19942	2.332000	0.43903	2.433000	0.82419	0.462000	0.41574	CGG		0.453	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		G	36874172	C	G	36874172	3	3	338	1	0	0	0	0	1	0	0	0	16454	652	23	3	2019	3	TRANK1	3	36874172	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09		36874172	161148258	41	18119											
CACNA2D2	9254	genome.wustl.edu	37	3	50404006	50404007	+	Intron	INS	-	-	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr3:50404006_50404007insA	ENST00000479441.1	-	31	2658				CACNA2D2_ENST00000423994.2_Intron|CACNA2D2_ENST00000424201.2_Intron|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000360963.3_Intron|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000435965.1_Intron|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000266039.3_Intron|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000429770.1_Intron|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000395083.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2						energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGGGCACACACACCTCATTGTT	0.594																																																0			3																																								50379011	SO:0001627	intron_variant	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2658+1->T	3.37:g.50404007_50404007dupA			50379010	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Splice_Site	INS	ENST00000479441.1	37	CCDS54588.1																																																																																				0.594	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		A	50404007	-	A	50404006	6	5	338	0	1	1	1	0	0	0	0	0	2549	493	17	0		0	CACNA2D2	3	50404006	Intron	INS	-	TCGA-29-1761-01A-01W-0633-09	13529834	50404006	147618424	42	18120											
GOLGB1	2804	genome.wustl.edu	37	3	121412666	121412666	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr3:121412666T>G	ENST00000340645.5	-	13	6814	c.6689A>C	c.(6688-6690)gAa>gCa	p.E2230A	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2235A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2230					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCAATTATCTTCTTTGAGTCT	0.363																																																0			3											232	208	216					3																	121412666		2203	4300	6503	122895356	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6689A>C	3.37:g.121412666T>G	ENSP00000341848:p.Glu2230Ala		122895356	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.388314	0.25118	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.26067	1.77;1.76	5.75	5.75	0.90469	.	0.106278	0.41294	D	0.000912	T	0.33933	0.0880	M	0.68952	2.095	0.49299	D	0.999776	P;P;P;P	0.48503	0.911;0.675;0.675;0.911	B;B;B;P	0.46275	0.438;0.205;0.205;0.51	T	0.07102	-1.0790	10	0.30078	T	0.28	.	14.0228	0.64568	0.0:0.0:0.0:1.0	.	2155;2235;2235;2230	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	A	2230;2235	ENSP00000341848:E2230A;ENSP00000377275:E2235A	ENSP00000341848:E2230A	E	-	2	0	GOLGB1	122895356	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.450000	0.44943	2.194000	0.70268	0.533000	0.62120	GAA		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		G	121412666	T	G	121412666	3	3	338	1	0	0	0	0	1	0	0	0	6565	1783	62	5	3130	5	GOLGB1	3	121412666	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	71008660	121412666	76609764	43	18121											
ALDH1L1	10840	genome.wustl.edu	37	3	125873436	125873436	+	Missense_Mutation	SNP	G	G	T	rs374387532		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr3:125873436G>T	ENST00000393434.2	-	6	1030	c.681C>A	c.(679-681)aaC>aaA	p.N227K	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.N227K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.N126K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.N237K|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.N227K|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.N52K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	227					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCACCTTGTCGTTCCCGCGGA	0.597																																																0			3											130	109	116					3																	125873436		2203	4300	6503	127356126	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.681C>A	3.37:g.125873436G>T	ENSP00000377083:p.Asn227Lys		127356126	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	g	13.68	2.310499	0.40895	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.76186	1.0;1.0;-1.0;1.0;1.0;1.0	4.54	-9.09	0.00717	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80314	0.4600	M	0.65498	2.005	0.44515	D	0.997464	D;D;P;D;P	0.89917	1.0;0.998;0.942;0.999;0.942	D;D;P;D;P	0.77557	0.99;0.983;0.73;0.973;0.852	D	0.87899	0.2689	10	0.62326	D	0.03	.	16.7966	0.85603	0.8772:0.0:0.1228:0.0	.	52;126;279;132;227	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	K	237;227;126;227;227;52	ENSP00000273450:N237K;ENSP00000420293:N227K;ENSP00000395881:N126K;ENSP00000377083:N227K;ENSP00000377081:N227K;ENSP00000414126:N52K	ENSP00000273450:N237K	N	-	3	2	ALDH1L1	127356126	0.189000	0.23263	0.537000	0.28052	0.228000	0.25075	-0.379000	0.07437	-2.356000	0.00613	-2.384000	0.00231	AAC		0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		T	125873436	G	T	125873436	3	4	338	1	0	0	0	0	1	0	0	0	494	1136	40	3	2099	3	ALDH1L1	3	125873436	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	4460770	125873436	72148994	44	18122											
TOPBP1	11073	genome.wustl.edu	37	3	133368715	133368715	+	Frame_Shift_Del	DEL	G	G	-	rs369433427		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr3:133368715delG	ENST00000260810.5	-	9	1293	c.1162delC	c.(1162-1164)cgtfs	p.R388fs	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	388	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.R301C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGGTTAAAACGAACTCCACCT	0.338								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											1	Substitution - Missense(1)	large_intestine(1)	3											70	67	68					3																	133368715		1847	4091	5938	134851405	SO:0001589	frameshift_variant	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1162delC	3.37:g.133368715delG	ENSP00000260810:p.Arg388fs		134851405	B7Z7W8|Q7LGC1|Q9UEB9	Frame_Shift_Del	DEL	ENST00000260810.5	37	CCDS46919.1																																																																																				0.338	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		-	133368715	G	-	133368715	7	5	338	1	0	1	0	1	0	0	0	0	16369	1058	37	0	3486	0	TOPBP1	3	133368715	Frame_Shift_Del	DEL	G	TCGA-29-1761-01A-01W-0633-09	7495279	133368715	64653715	45	18123											
TRPC1	7220	genome.wustl.edu	37	3	142511756	142511756	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr3:142511756T>A	ENST00000476941.1	+	9	2014	c.1528T>A	c.(1528-1530)Tat>Aat	p.Y510N	TRPC1_ENST00000273482.6_Missense_Mutation_p.Y476N	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	510					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGTTCTAAGTTATCTTCGTCT	0.343																																																0			3											148	133	138					3																	142511756		2203	4300	6503	143994446	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1528T>A	3.37:g.142511756T>A	ENSP00000419313:p.Tyr510Asn		143994446	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601362	0.87055	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.98455	-4.94;-4.94	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	L	0.43152	1.355	0.80722	D	1	D;D	0.71674	0.998;0.98	D;P	0.68621	0.959;0.815	D	0.99809	1.1040	10	0.87932	D	0	-33.6702	15.5066	0.75745	0.0:0.0:0.0:1.0	.	510;476	P48995;P48995-2	TRPC1_HUMAN;.	N	510;476	ENSP00000419313:Y510N;ENSP00000273482:Y476N	ENSP00000273482:Y476N	Y	+	1	0	TRPC1	143994446	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.119000	0.64992	0.455000	0.32223	TAT		0.343	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		A	142511756	T	A	142511756	3	1	338	1	0	0	0	0	1	0	0	0	16578	1754	61	5	1456	5	TRPC1	3	142511756	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	9143041	142511756	55510674	46	18124											
TM4SF1	4071	genome.wustl.edu	37	3	149095273	149095273	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr3:149095273C>G	ENST00000305366.3	-	1	379	c.62G>C	c.(61-63)tGc>tCc	p.C21S	TM4SF1_ENST00000472441.1_5'Flank|TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1-AS1_ENST00000496491.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	21						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGCCGCGATGCACAGGAGGGC	0.512																																																0			3											113	111	112					3																	149095273		2203	4300	6503	150577963	SO:0001583	missense	4071			M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"transmembrane 4 superfamily member 1"	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.62G>C	3.37:g.149095273C>G	ENSP00000304277:p.Cys21Ser		150577963	Q6IB51	Missense_Mutation	SNP	ENST00000305366.3	37	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	C	2.283	-0.364209	0.05103	.	.	ENSG00000169908	ENST00000305366;ENST00000383054	T	0.29397	1.57	5.5	4.62	0.57501	.	0.215518	0.41605	N	0.000843	T	0.23094	0.0558	N	0.25992	0.78	0.80722	D	1	B	0.16166	0.016	B	0.27076	0.076	T	0.04216	-1.0968	10	0.07482	T	0.82	-20.2895	16.3478	0.83151	0.0:0.8678:0.1322:0.0	.	21	P30408	T4S1_HUMAN	S	21	ENSP00000304277:C21S	ENSP00000304277:C21S	C	-	2	0	TM4SF1	150577963	1.000000	0.71417	0.994000	0.49952	0.025000	0.11179	4.529000	0.60588	1.312000	0.45043	0.655000	0.94253	TGC		0.512	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			G	149095273	C	G	149095273	3	3	338	1	0	0	0	0	1	0	0	0	15966	710	25	3	566	3	TM4SF1	3	149095273	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	6583517	149095273	48927157	47	18125											
ACOX3	8310	genome.wustl.edu	37	4	8407685	8407685	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr4:8407685T>A	ENST00000356406.5	-	7	850	c.773A>T	c.(772-774)aAt>aTt	p.N258I	ACOX3_ENST00000503233.1_Missense_Mutation_p.N258I|ACOX3_ENST00000413009.2_Missense_Mutation_p.N258I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	258					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CACTCACCCATTATCCAGACC	0.562																																																0			4											175	161	166					4																	8407685		2203	4300	6503	8458585	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.773A>T	4.37:g.8407685T>A	ENSP00000348775:p.Asn258Ile		8458585	Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922308	0.52653	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.64260	-0.09;-0.09;-0.09	4.5	4.5	0.54988	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.117381	0.56097	D	0.000027	T	0.81069	0.4746	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.972;0.988;0.972	D	0.85000	0.0899	10	0.87932	D	0	.	13.1964	0.59740	0.0:0.0:0.0:1.0	.	258;258;258	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	I	258	ENSP00000413994:N258I;ENSP00000348775:N258I;ENSP00000421625:N258I	ENSP00000348775:N258I	N	-	2	0	ACOX3	8458585	1.000000	0.71417	0.963000	0.40424	0.079000	0.17450	5.137000	0.64789	2.013000	0.59113	0.383000	0.25322	AAT		0.562	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			A	8407685	T	A	8407685	3	1	338	1	0	0	0	0	1	0	0	0	160	1493	52	5	1377	5	ACOX3	4	8407685	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09		8407685	182746591	48	18126											
CCDC149	91050	genome.wustl.edu	37	4	24839787	24839787	+	Silent	SNP	A	A	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr4:24839787A>C	ENST00000389609.4	-	6	623	c.480T>G	c.(478-480)gcT>gcG	p.A160A	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000504487.1_Silent_p.A160A|CCDC149_ENST00000428116.2_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	105										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCTGTTCCTTAGCTCGCTCTA	0.522																																																0			4											208	196	200					4																	24839787		2203	4300	6503	24448885	SO:0001819	synonymous_variant	91050				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.480T>G	4.37:g.24839787A>C			24448885	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	CCDS33967.2																																																																																				0.522	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		C	24839787	A	C	24839787	2	2	338	1	0	0	0	0	0	0	0	1	2783	407	15	5		5	CCDC149	4	24839787	Silent	SNP	A	TCGA-29-1761-01A-01W-0633-09	16432102	24839787	166314489	49	18127											
UGT2B4	7363	genome.wustl.edu	37	4	70346447	70346447	+	Silent	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr4:70346447G>A	ENST00000305107.6	-	6	1538	c.1492C>T	c.(1492-1494)Ctg>Ttg	p.L498L	AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.L362L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	498					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L498M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACACAGGCCAGCAGGAACCCA	0.468																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	4											144	139	141					4																	70346447		2203	4300	6503	70381036	SO:0001819	synonymous_variant	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1492C>T	4.37:g.70346447G>A			70381036	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	CCDS43234.1																																																																																				0.468	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		A	70346447	G	A	70346447	2	1	338	1	0	0	0	0	0	0	0	1	16961	962	34	2		2	UGT2B4	4	70346447	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	45506660	70346447	120807829	50	18128											
SMR3B	10879	genome.wustl.edu	37	4	71255388	71255388	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr4:71255388G>C	ENST00000304915.3	+	3	212	c.63G>C	c.(61-63)gaG>gaC	p.E21D	SMR3B_ENST00000504825.1_Missense_Mutation_p.E21D	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	21						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				AGCCTGGTGAGAGTCAAAGAG	0.468																																																0			4											63	68	66					4																	71255388		2203	4300	6503	71289977	SO:0001583	missense	10879			D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"proline rich 3", "submaxillary gland androgen regulated protein 3 homolog B (mouse)"	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.63G>C	4.37:g.71255388G>C	ENSP00000302400:p.Glu21Asp		71289977	B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP	ENST00000304915.3	37	CCDS3540.1	.	.	.	.	.	.	.	.	.	.	G	4.950	0.176427	0.09443	.	.	ENSG00000171201	ENST00000504825;ENST00000304915;ENST00000381030	T;T	0.50548	0.74;0.74	1.58	1.58	0.23477	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.09310	N	1	D	0.60575	0.988	P	0.62184	0.899	T	0.42137	-0.9469	8	0.87932	D	0	.	6.5984	0.22687	0.0:0.0:1.0:0.0	.	21	P02814	SMR3B_HUMAN	D	21	ENSP00000423138:E21D;ENSP00000302400:E21D	ENSP00000302400:E21D	E	+	3	2	SMR3B	71289977	1.000000	0.71417	0.117000	0.21633	0.179000	0.23085	0.995000	0.29706	1.188000	0.43014	0.205000	0.17691	GAG		0.468	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2	NM_006685		C	71255388	G	C	71255388	3	2	338	1	0	0	0	0	1	0	0	0	14815	933	33	3	69	3	SMR3B	4	71255388	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	908941	71255388	119898888	51	18129											
NFKB1	4790	genome.wustl.edu	37	4	103488217	103488217	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr4:103488217C>T	ENST00000505458.1	+	6	606	c.329C>T	c.(328-330)gCc>gTc	p.A110V	NFKB1_ENST00000510638.1_3'UTR|AF213884.3_ENST00000458904.1_RNA|NFKB1_ENST00000394820.4_Missense_Mutation_p.A110V|NFKB1_ENST00000226574.4_Missense_Mutation_p.A111V			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	110	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CACCTGCATGCCCACAGCCTG	0.463																																																0			4											165	143	150					4																	103488217		2203	4300	6503	103707253	SO:0001583	missense	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.329C>T	4.37:g.103488217C>T	ENSP00000424790:p.Ala110Val		103707253	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002408	0.93227	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000507079;ENST00000505458;ENST00000509165	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.62	5.62	0.85841	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.058870	0.64402	D	0.000003	T	0.61299	0.2336	L	0.43757	1.38	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.61533	0.89;0.793	T	0.62868	-0.6763	10	0.87932	D	0	.	19.69	0.95996	0.0:1.0:0.0:0.0	.	110;111	P19838;P19838-2	NFKB1_HUMAN;.	V	111;110;119;110;111	ENSP00000226574:A111V;ENSP00000378297:A110V;ENSP00000426147:A119V;ENSP00000424790:A110V;ENSP00000423877:A111V	ENSP00000226574:A111V	A	+	2	0	NFKB1	103707253	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	6.364000	0.73086	2.648000	0.89879	0.650000	0.86243	GCC		0.463	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			T	103488217	C	T	103488217	3	4	338	1	0	0	0	0	1	0	0	0	10375	739	26	2	350	2	NFKB1	4	103488217	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	32232829	103488217	87666059	52	18130											
LRBA	987	genome.wustl.edu	37	4	151186888	151186888	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr4:151186888G>C	ENST00000357115.3	-	58	8821	c.8578C>G	c.(8578-8580)Caa>Gaa	p.Q2860E	LRBA_ENST00000535741.1_Missense_Mutation_p.Q2849E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q2848E|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2860						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TAGCGGGTTTGGTATTCATGA	0.463																																																0			4											132	122	125					4																	151186888		2203	4300	6503	151406338	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8578C>G	4.37:g.151186888G>C	ENSP00000349629:p.Gln2860Glu		151406338	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971922	0.92919	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115	T;T;T	0.52983	0.65;0.8;0.64	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.67953	2.075	0.80722	D	1	D;D;P;D	0.64830	0.982;0.994;0.955;0.989	D;D;P;D	0.79108	0.952;0.992;0.725;0.983	T	0.70260	-0.4921	10	0.87932	D	0	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	2860;2849;2848;755	P50851;F5H1X8;P50851-2;Q68D03	LRBA_HUMAN;.;.;.	E	2849;2848;2860	ENSP00000446299:Q2849E;ENSP00000421552:Q2848E;ENSP00000349629:Q2860E	ENSP00000349629:Q2860E	Q	-	1	0	LRBA	151406338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.782000	0.95742	0.655000	0.94253	CAA		0.463	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			C	151186888	G	C	151186888	3	2	338	1	0	0	0	0	1	0	0	0	8931	1357	47	3	17	3	LRBA	4	151186888	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	47698671	151186888	39967388	53	18131											
TLR2	7097	genome.wustl.edu	37	4	154625206	154625206	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr4:154625206G>A	ENST00000260010.6	+	1	2555	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	383					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TTCAGCCTGTGAGGATGCCTG	0.358																																																0			4											35	38	37					4																	154625206		2202	4300	6502	154844656	SO:0001583	missense	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1147G>A	4.37:g.154625206G>A	ENSP00000260010:p.Glu383Lys		154844656	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	2.962	-0.214345	0.06101	.	.	ENSG00000137462	ENST00000260010	T	0.00848	5.62	6.06	2.43	0.29744	.	0.666605	0.15640	N	0.251952	T	0.00936	0.0031	L	0.35644	1.08	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48281	-0.9049	10	0.23302	T	0.38	.	6.701	0.23225	0.2543:0.2299:0.5158:0.0	.	383	O60603	TLR2_HUMAN	K	383	ENSP00000260010:E383K	ENSP00000260010:E383K	E	+	1	0	TLR2	154844656	0.006000	0.16342	0.489000	0.27452	0.945000	0.59286	0.088000	0.14979	0.142000	0.18901	0.655000	0.94253	GAG		0.358	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			A	154625206	G	A	154625206	3	1	338	1	0	0	0	0	1	0	0	0	15951	1291	45	2	1149	2	TLR2	4	154625206	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	3438318	154625206	36529070	54	18132											
LRP2BP	55805	genome.wustl.edu	37	4	186299270	186299270	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr4:186299270T>A	ENST00000328559.7	-	1	882	c.71A>T	c.(70-72)aAc>aTc	p.N24I	LRP2BP_ENST00000362004.3_Missense_Mutation_p.N24I|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Missense_Mutation_p.N24I|LRP2BP_ENST00000510776.1_5'UTR	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	24						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AAATTTTTGGTTTTTAGCAGC	0.368																																																0			4											144	146	146					4																	186299270		2203	4300	6503	186536264	SO:0001583	missense	55805			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.71A>T	4.37:g.186299270T>A	ENSP00000332681:p.Asn24Ile		186536264	A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	T	5.419	0.262476	0.10294	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000505916;ENST00000511404	T;T;T	0.49139	0.84;0.79;0.79	4.99	2.56	0.30785	.	0.937434	0.09025	N	0.859641	T	0.30135	0.0755	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.19976	-1.0289	10	0.39692	T	0.17	-3.8955	4.6571	0.12622	0.0:0.1015:0.2117:0.6867	.	24	Q9P2M1	LR2BP_HUMAN	I	24	ENSP00000354846:N24I;ENSP00000332681:N24I;ENSP00000426203:N24I	ENSP00000332681:N24I	N	-	2	0	LRP2BP	186536264	0.001000	0.12720	0.026000	0.17262	0.010000	0.07245	0.298000	0.19120	0.938000	0.37419	0.533000	0.62120	AAC		0.368	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		A	186299270	T	A	186299270	3	1	338	1	0	0	0	0	1	0	0	0	8957	1725	60	5	1004	5	LRP2BP	4	186299270	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	31674064	186299270	4855006	55	18133											
TRIML2	205860	genome.wustl.edu	37	4	189012738	189012738	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr4:189012738T>A	ENST00000512729.1	-	7	1327	c.953A>T	c.(952-954)gAc>gTc	p.D318V	TRIML2_ENST00000326754.3_Missense_Mutation_p.D343V	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	318	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCAACTGTGTCCAACTTCTT	0.517																																																0			4											136	154	148					4																	189012738		2203	4300	6503	189249732	SO:0001583	missense	205860			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.953A>T	4.37:g.189012738T>A	ENSP00000422581:p.Asp318Val		189249732	B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	T	4.025	0.002034	0.07819	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.74002	-0.8;-0.8	5.85	-2.65	0.06095	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.463750	0.04045	N	0.303820	T	0.59500	0.2198	L	0.32530	0.975	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.19666	0.026;0.026	T	0.33007	-0.9885	10	0.24483	T	0.36	.	3.7388	0.08521	0.3814:0.2165:0.0:0.402	.	343;318	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	V	318;343	ENSP00000422581:D318V;ENSP00000317498:D343V	ENSP00000317498:D343V	D	-	2	0	TRIML2	189249732	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.173000	0.16724	-0.312000	0.08741	0.533000	0.62120	GAC		0.517	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		A	189012738	T	A	189012738	3	1	338	1	0	0	0	0	1	0	0	0	16551	1667	58	5	214	5	TRIML2	4	189012738	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	2713468	189012738	2141538	56	18134											
PRDM9	56979	genome.wustl.edu	37	5	23521258	23521258	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr5:23521258A>T	ENST00000296682.3	+	6	660	c.478A>T	c.(478-480)Acc>Tcc	p.T160S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	160					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCAAGTACCTCTGGACA	0.428										HNSCC(3;0.000094)																																						0			5											110	108	108					5																	23521258		1853	4105	5958	23557015	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.478A>T	5.37:g.23521258A>T	ENSP00000296682:p.Thr160Ser		23557015	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408440	0.25378	.	.	ENSG00000164256	ENST00000296682	T	0.09073	3.02	3.31	-4.05	0.03998	.	.	.	.	.	T	0.07728	0.0194	L	0.59436	1.845	0.09310	N	1	B	0.22800	0.075	B	0.15870	0.014	T	0.36648	-0.9739	9	0.87932	D	0	-3.9736	4.536	0.12032	0.3597:0.0:0.4607:0.1796	.	160	Q9NQV7	PRDM9_HUMAN	S	160	ENSP00000296682:T160S	ENSP00000296682:T160S	T	+	1	0	PRDM9	23557015	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.548000	0.06048	-0.803000	0.04415	-0.430000	0.05897	ACC		0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23521258	A	T	23521258	3	4	338	1	0	0	0	0	1	0	0	0	12466	391	14	5	496	5	PRDM9	5	23521258	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09		23521258	157394002	57	18135											
PLK2	10769	genome.wustl.edu	37	5	57754578	57754578	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr5:57754578T>C	ENST00000274289.3	-	3	769	c.469A>G	c.(469-471)Att>Gtt	p.I157V	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCCAAGAGAATGTAAATGTTT	0.348																																																0			5											81	81	81					5																	57754578		2203	4300	6503	57790335	SO:0001583	missense	10769				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.469A>G	5.37:g.57754578T>C	ENSP00000274289:p.Ile157Val		57790335	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203883	0.79127	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.27890	1.64	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.087080	0.85682	D	0.000000	T	0.48466	0.1501	L	0.45051	1.395	0.80722	D	1	D;D	0.65815	0.995;0.97	D;P	0.66716	0.946;0.868	T	0.41592	-0.9500	10	0.59425	D	0.04	-19.8333	16.8222	0.85835	0.0:0.0:0.0:1.0	.	59;157	B7Z9B4;Q9NYY3	.;PLK2_HUMAN	V	157;157;143	ENSP00000274289:I157V	ENSP00000274289:I157V	I	-	1	0	PLK2	57790335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.687000	0.84139	2.371000	0.80710	0.533000	0.62120	ATT		0.348	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		C	57754578	T	C	57754578	3	2	338	1	0	0	0	0	1	0	0	0	12096	1464	51	4	1636	4	PLK2	5	57754578	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	34233320	57754578	123160682	58	18136											
TMEM174	134288	genome.wustl.edu	37	5	72469089	72469089	+	Missense_Mutation	SNP	C	C	T	rs375705483		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr5:72469089C>T	ENST00000296776.5	+	1	68	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	7						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GGGCAGCGGCCGCTTGGAGGA	0.547																																																0			5						C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	115	115	115		19	3	0	5		115	0,8600		0,0,4300	no	missense	TMEM174	NM_153217.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	7/244	72469089	1,13005	2203	4300	6503	72504845	SO:0001583	missense	134288			BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.19C>T	5.37:g.72469089C>T	ENSP00000296776:p.Arg7Cys		72504845	B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	C	6.138	0.393666	0.11638	2.27E-4	0.0	ENSG00000164325	ENST00000296776	.	.	.	5.82	3.04	0.35103	.	0.684499	0.14830	N	0.295888	T	0.16981	0.0408	N	0.08118	0	0.21020	N	0.999803	B	0.16396	0.017	B	0.12156	0.007	T	0.17228	-1.0376	9	0.46703	T	0.11	-7.4656	4.1011	0.10014	0.1588:0.5924:0.1074:0.1414	.	7	Q8WUU8	TM174_HUMAN	C	7	.	ENSP00000296776:R7C	R	+	1	0	TMEM174	72504845	0.000000	0.05858	0.001000	0.08648	0.177000	0.22998	0.375000	0.20518	0.359000	0.24239	0.591000	0.81541	CGC		0.547	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		T	72469089	C	T	72469089	3	4	338	1	0	0	0	0	1	0	0	0	16090	652	23	1	21	1	TMEM174	5	72469089	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	14714511	72469089	108446171	59	18137											
GCNT4	51301	genome.wustl.edu	37	5	74325204	74325204	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr5:74325204C>A	ENST00000322348.4	-	1	1520	c.659G>T	c.(658-660)tGg>tTg	p.W220L		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	220					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AACATATTTCCACTGGATTGA	0.398																																																0			5											69	73	72					5																	74325204		2197	4299	6496	74360960	SO:0001583	missense	51301			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.659G>T	5.37:g.74325204C>A	ENSP00000317027:p.Trp220Leu		74360960		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.588143	0.86851	.	.	ENSG00000176928	ENST00000322348	T	0.21191	2.02	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67252	-0.5717	10	0.87932	D	0	-12.7228	20.8598	0.99761	0.0:1.0:0.0:0.0	.	220	Q9P109	GCNT4_HUMAN	L	220	ENSP00000317027:W220L	ENSP00000317027:W220L	W	-	2	0	GCNT4	74360960	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.807000	0.86032	2.937000	0.99478	0.650000	0.86243	TGG		0.398	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		A	74325204	C	A	74325204	3	1	338	1	0	0	0	0	1	0	0	0	6303	595	21	3	706	3	GCNT4	5	74325204	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	1856115	74325204	106590056	60	18138											
GPR98	84059	genome.wustl.edu	37	5	89986770	89986770	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr5:89986770T>C	ENST00000405460.2	+	31	6959	c.6863T>C	c.(6862-6864)gTc>gCc	p.V2288A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2288	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGCGAGTTGTCTCAGGTAAT	0.502																																																0			5											111	110	110					5																	89986770		1963	4162	6125	90022526	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6863T>C	5.37:g.89986770T>C	ENSP00000384582:p.Val2288Ala		90022526	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047936	0.36085	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27256	1.68	5.94	5.94	0.96194	Na-Ca exchanger/integrin-beta4 (1);	0.221093	0.47093	D	0.000248	T	0.12689	0.0308	N	0.08118	0	0.80722	D	1	B	0.20887	0.049	B	0.22601	0.04	T	0.13683	-1.0500	10	0.39692	T	0.17	.	6.3533	0.21387	0.0:0.1887:0.0:0.8113	.	2288	Q8WXG9	GPR98_HUMAN	A	2288	ENSP00000384582:V2288A	ENSP00000296619:V2288A	V	+	2	0	GPR98	90022526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.724000	0.38064	2.265000	0.75225	0.482000	0.46254	GTC		0.502	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	89986770	T	C	89986770	3	2	338	1	0	0	0	0	1	0	0	0	6721	1667	58	4	6985	4	GPR98	5	89986770	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	15661566	89986770	90928490	61	18139											
CAMK4	814	genome.wustl.edu	37	5	110814081	110814088	+	Frame_Shift_Del	DEL	TTTGTGGA	TTTGTGGA	-			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	TTTGTGGA	TTTGTGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr5:110814081_110814088delTTTGTGGA	ENST00000282356.4	+	9	1102_1109	c.704_711delTTTGTGGA	c.(703-711)ctttgtggafs	p.LCG235fs	CAMK4_ENST00000512453.1_Frame_Shift_Del_p.LCG235fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCCTCTAGACTTTGTGGATTTGAACCAT	0.346																																																0			5																																								110841987	SO:0001589	frameshift_variant	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.704_711delTTTGTGGA	5.37:g.110814081_110814088delTTTGTGGA	ENSP00000282356:p.Leu235fs		110841980	D3DSZ7	Frame_Shift_Del	DEL	ENST00000282356.4	37	CCDS4103.1																																																																																				0.346	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		-	110814088	TTTGTGGA	-	110814081	7	5	338	1	0	1	0	1	0	0	0	0	2605	1609	56	0	738	0	CAMK4	5	110814081	Frame_Shift_Del	DEL	TTTGTGGA	TCGA-29-1761-01A-01W-0633-09	20827311	110814081	70101179	62	18140											
SRFBP1	153443	genome.wustl.edu	37	5	121354998	121354998	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr5:121354998T>C	ENST00000339397.4	+	5	386	c.314T>C	c.(313-315)gTa>gCa	p.V105A		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AGACTAGCAGTACATCCTCTT	0.318																																																0			5											94	90	91					5																	121354998		1824	4077	5901	121382897	SO:0001583	missense	153443			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"BUD22 homolog (S. cerevisiae)"	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.314T>C	5.37:g.121354998T>C	ENSP00000341324:p.Val105Ala		121382897		Missense_Mutation	SNP	ENST00000339397.4	37	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502086	0.26949	.	.	ENSG00000151304	ENST00000339397	.	.	.	6.07	-0.775	0.10988	.	0.552378	0.20254	N	0.096020	T	0.13286	0.0322	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18178	-1.0345	9	0.07325	T	0.83	-0.0433	1.1654	0.01814	0.1777:0.3621:0.1821:0.2782	.	105	Q8NEF9	SRFB1_HUMAN	A	105	.	ENSP00000341324:V105A	V	+	2	0	SRFBP1	121382897	0.001000	0.12720	0.006000	0.13384	0.825000	0.46686	0.349000	0.20055	-0.076000	0.12775	0.533000	0.62120	GTA		0.318	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		C	121354998	T	C	121354998	3	2	338	1	0	0	0	0	1	0	0	0	15146	1638	57	4	332	4	SRFBP1	5	121354998	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	10540917	121354998	59560262	63	18141											
ZBTB12	221527	genome.wustl.edu	37	6	31868786	31868786	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr6:31868786G>C	ENST00000375527.2	-	2	472	c.297C>G	c.(295-297)gaC>gaG	p.D99E	C2_ENST00000452323.2_5'UTR|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						AGTTGACGATGTCCCTAACAG	0.587																																																0			6											83	77	79					6																	31868786		2203	4300	6503	31976765	SO:0001583	missense	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.297C>G	6.37:g.31868786G>C	ENSP00000364677:p.Asp99Glu		31976765	B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	G	5.998	0.368058	0.11352	.	.	ENSG00000204366	ENST00000375527	T	0.67345	-0.26	4.44	1.6	0.23607	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.059546	0.64402	U	0.000004	T	0.19604	0.0471	N	0.03238	-0.38	0.36057	D	0.841167	B	0.32245	0.361	B	0.43728	0.429	T	0.27502	-1.0072	10	0.02654	T	1	.	4.6355	0.12523	0.2634:0.0:0.5826:0.154	.	99	Q9Y330	ZBT12_HUMAN	E	99	ENSP00000364677:D99E	ENSP00000364677:D99E	D	-	3	2	ZBTB12	31976765	0.986000	0.35501	0.999000	0.59377	0.943000	0.58893	0.224000	0.17738	0.011000	0.14865	-0.347000	0.07816	GAC		0.587	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		C	31868786	G	C	31868786	3	2	338	1	0	0	0	0	1	0	0	0	17525	1368	48	3	1086	3	ZBTB12	6	31868786	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09		31868786	139246281	64	18142											
EEF1A1	1915	genome.wustl.edu	37	6	74229098	74229099	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	TG	TG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr6:74229098_74229099delTG	ENST00000316292.9	-	2	1276_1277	c.285_286delCA	c.(283-288)cacagafs	p.HR95fs	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.HR95fs|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.HR95fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	95	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ATAAAGTCTCTGTGTCCTGGGG	0.406											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			6																																								74285820	SO:0001589	frameshift_variant	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.285_286delCA	6.37:g.74229100_74229101delTG	ENSP00000339063:p.His95fs	1151	74285819	P04719|P04720|Q6IQ15	Frame_Shift_Del	DEL	ENST00000316292.9	37	CCDS4980.1																																																																																				0.406	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		-	74229099	TG	-	74229098	7	5	338	1	0	1	0	1	0	0	0	0	4923	1588	55	0	1126	0	EEF1A1	6	74229098	Frame_Shift_Del	DEL	TG	TCGA-29-1761-01A-01W-0633-09	42360312	74229098	96885969	65	18143											
C6orf170	221322	genome.wustl.edu	37	6	121613308	121613308	+	Silent	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr6:121613308T>C	ENST00000398212.2	-	12	1312	c.1263A>G	c.(1261-1263)ggA>ggG	p.G421G	TBC1D32_ENST00000275159.6_Silent_p.G421G	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	421					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										GTAATTCTTGTCCTAAGTAGT	0.299																																																0			6											84	89	87					6																	121613308		1796	4055	5851	121655007	SO:0001819	synonymous_variant	221322			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1263A>G	6.37:g.121613308T>C			121655007	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	CCDS43501.1																																																																																				0.299	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		C	121613308	T	C	121613308	2	2	338	1	0	0	0	0	0	0	0	1	2344	1654	58	4		4	C6orf170	6	121613308	Silent	SNP	T	TCGA-29-1761-01A-01W-0633-09	47384210	121613308	49501759	66	18144											
SYNE1	23345	genome.wustl.edu	37	6	152576848	152576848	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr6:152576848C>G	ENST00000367255.5	-	103	19739	c.19138G>C	c.(19138-19140)Gag>Cag	p.E6380Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E6309Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5992Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6380Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6309Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E904Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6380					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTTCTGCTCCAAGTGTATA	0.418										HNSCC(10;0.0054)																																						0			6											143	116	126					6																	152576848		2203	4300	6503	152618541	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19138G>C	6.37:g.152576848C>G	ENSP00000356224:p.Glu6380Gln		152618541	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629776	0.67015	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.57595	0.48;0.47;0.39;0.47;0.59;2.57	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000026	T	0.43500	0.1250	L	0.43757	1.38	0.54753	D	0.999983	P;P;P	0.52692	0.874;0.874;0.955	B;B;P	0.49047	0.395;0.395;0.599	T	0.17961	-1.0352	10	0.23302	T	0.38	.	18.7568	0.91836	0.0:1.0:0.0:0.0	.	6380;6380;6309	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	Q	6380;6309;6380;6309;5992;904	ENSP00000356224:E6380Q;ENSP00000396024:E6309Q;ENSP00000265368:E6380Q;ENSP00000390975:E6309Q;ENSP00000341887:E5992Q;ENSP00000349276:E904Q	ENSP00000265368:E6380Q	E	-	1	0	SYNE1	152618541	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.900000	0.69853	2.510000	0.84645	0.563000	0.77884	GAG		0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152576848	C	G	152576848	3	3	338	1	0	0	0	0	1	0	0	0	15445	864	30	3	7504	3	SYNE1	6	152576848	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	30963540	152576848	18538219	67	18145											
GPNMB	10457	genome.wustl.edu	37	7	23309694	23309694	+	Silent	SNP	A	A	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr7:23309694A>G	ENST00000381990.2	+	9	1526	c.1365A>G	c.(1363-1365)agA>agG	p.R455R	GPNMB_ENST00000258733.4_Silent_p.R443R|GPNMB_ENST00000453162.2_Silent_p.R397R|GPNMB_ENST00000539136.1_Silent_p.R344R	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	455					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TGACTGTGAGACGAACCTTCA	0.552																																																0			7											197	148	165					7																	23309694		2203	4300	6503	23276219	SO:0001819	synonymous_variant	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1365A>G	7.37:g.23309694A>G			23276219	A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	CCDS34610.1																																																																																				0.552	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		G	23309694	A	G	23309694	2	3	338	1	0	0	0	0	0	0	0	1	6620	272	10	4		4	GPNMB	7	23309694	Silent	SNP	A	TCGA-29-1761-01A-01W-0633-09		23309694	135828969	68	18146											
AEBP1	165	genome.wustl.edu	37	7	44153303	44153303	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr7:44153303G>A	ENST00000223357.3	+	21	3225	c.2920G>A	c.(2920-2922)Ggg>Agg	p.G974R	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.G549R	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	974	Interaction with PTEN. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CTATGACATCGGGGCCACTCA	0.592																																																0			7											119	110	113					7																	44153303		2203	4300	6503	44119828	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2920G>A	7.37:g.44153303G>A	ENSP00000223357:p.Gly974Arg		44119828	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.501898	0.85176	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.14391	2.51;2.51	4.96	4.96	0.65561	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.49350	1.555	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.947;0.998	T	0.02202	-1.1196	10	0.54805	T	0.06	-60.2493	18.2071	0.89858	0.0:0.0:1.0:0.0	.	549;974	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	R	974;549	ENSP00000223357:G974R;ENSP00000398878:G549R	ENSP00000223357:G974R	G	+	1	0	AEBP1	44119828	1.000000	0.71417	0.996000	0.52242	0.837000	0.47467	6.507000	0.73717	2.482000	0.83794	0.552000	0.68991	GGG		0.592	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44153303	G	A	44153303	3	1	338	1	0	0	0	0	1	0	0	0	349	1116	39	1	3002	1	AEBP1	7	44153303	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	20843609	44153303	114985360	69	18147											
ABCA13	154664	genome.wustl.edu	37	7	48313393	48313393	+	Missense_Mutation	SNP	C	C	T	rs527278126		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr7:48313393C>T	ENST00000435803.1	+	17	4154	c.4130C>T	c.(4129-4131)aCg>aTg	p.T1377M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1377					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTCTAGACACGTTAAATTCC	0.338																																																0			7											52	49	50					7																	48313393		1868	4094	5962	48283939	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4130C>T	7.37:g.48313393C>T	ENSP00000411096:p.Thr1377Met		48283939	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.733058	0.00089	.	.	ENSG00000179869	ENST00000435803	D	0.84660	-1.88	5.38	-0.0583	0.13797	.	0.482604	0.19331	N	0.116882	T	0.48519	0.1504	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53085	-0.8488	9	.	.	.	.	4.6183	0.12437	0.1357:0.3105:0.0:0.5539	.	1377	Q86UQ4	ABCAD_HUMAN	M	1377	ENSP00000411096:T1377M	.	T	+	2	0	ABCA13	48283939	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	-0.039000	0.12124	-0.109000	0.12044	-0.360000	0.07572	ACG		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48313393	C	T	48313393	3	4	338	1	0	0	0	0	1	0	0	0	31	536	19	1	4025	1	ABCA13	7	48313393	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	4160090	48313393	110825270	70	18148											
ABCB4	5244	genome.wustl.edu	37	7	87081108	87081108	+	Missense_Mutation	SNP	T	T	A	rs531217817		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr7:87081108T>A	ENST00000265723.4	-	7	650	c.539A>T	c.(538-540)gAc>gTc	p.D180V	ABCB4_ENST00000358400.3_Missense_Mutation_p.D180V|ABCB4_ENST00000359206.3_Missense_Mutation_p.D180V|ABCB4_ENST00000545634.1_Missense_Mutation_p.D180V|ABCB4_ENST00000453593.1_Missense_Mutation_p.D180V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	180	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTTGGAGATGTCACTAAAAAA	0.388																																																0			7											149	124	132					7																	87081108		2203	4300	6503	86919044	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.539A>T	7.37:g.87081108T>A	ENSP00000265723:p.Asp180Val		86919044	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395576	0.83011	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.95	4.81	0.61882	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.96833	3.89	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.996	D;D;D	0.83275	0.996;0.972;0.984	D	0.98554	1.0638	10	0.87932	D	0	-21.9701	11.4991	0.50426	0.0:0.0692:0.0:0.9308	.	180;180;180	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	V	180	ENSP00000352135:D180V;ENSP00000351172:D180V;ENSP00000265723:D180V;ENSP00000392983:D180V;ENSP00000437465:D180V	ENSP00000265723:D180V	D	-	2	0	ABCB4	86919044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.950000	0.56676	2.282000	0.76494	0.533000	0.62120	GAC		0.388	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		A	87081108	T	A	87081108	3	1	338	1	0	0	0	0	1	0	0	0	43	1667	58	5	3409	5	ABCB4	7	87081108	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	38767715	87081108	72057555	71	18149											
PLOD3	8985	genome.wustl.edu	37	7	100855616	100855616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr7:100855616G>A	ENST00000223127.3	-	10	1443	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	349					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCTGGAGCTGCGGCCAGGAG	0.662																																																0			7											56	58	57					7																	100855616		2203	4300	6503	100642336	SO:0001587	stop_gained	8985			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1045C>T	7.37:g.100855616G>A	ENSP00000223127:p.Gln349*		100642336	B2R6W6|Q540C3	Nonsense_Mutation	SNP	ENST00000223127.3	37	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	G	38	7.119413	0.98077	.	.	ENSG00000106397	ENST00000223127	.	.	.	4.44	3.54	0.40534	.	0.414773	0.23832	N	0.044122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0253	7.4951	0.27483	0.0:0.1845:0.6251:0.1904	.	.	.	.	X	349	.	ENSP00000223127:Q349X	Q	-	1	0	PLOD3	100642336	0.760000	0.28428	0.992000	0.48379	0.645000	0.38454	0.948000	0.29096	0.829000	0.34733	0.462000	0.41574	CAG		0.662	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			A	100855616	G	A	100855616	4	1	338	1	0	0	0	0	0	1	0	0	12103	1328	46	2	1211	2	PLOD3	7	100855616	Nonsense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	13774508	100855616	58283047	72	18150											
LRRN3	54674	genome.wustl.edu	37	7	110763677	110763677	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr7:110763677G>A	ENST00000422987.3	+	2	1680	c.849G>A	c.(847-849)atG>atA	p.M283I	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.M283I|LRRN3_ENST00000308478.5_Missense_Mutation_p.M283I|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	283					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTAGCAATATGCTACACTTAA	0.333																																																0			7											54	58	57					7																	110763677		2203	4300	6503	110550913	SO:0001583	missense	54674			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.849G>A	7.37:g.110763677G>A	ENSP00000412417:p.Met283Ile		110550913	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888463	0.72524	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.24350	1.86;1.86;1.86	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.51329	0.1668	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.45585	-0.9251	10	0.66056	D	0.02	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	283	Q9H3W5	LRRN3_HUMAN	I	283	ENSP00000312001:M283I;ENSP00000397312:M283I;ENSP00000412417:M283I	ENSP00000312001:M283I	M	+	3	0	LRRN3	110550913	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.775000	0.95449	0.650000	0.86243	ATG		0.333	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		A	110763677	G	A	110763677	3	1	338	1	0	0	0	0	1	0	0	0	9036	1319	46	2	851	2	LRRN3	7	110763677	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	9908061	110763677	48374986	73	18151											
PLXNA4	91584	genome.wustl.edu	37	7	131912327	131912327	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr7:131912327C>G	ENST00000359827.3	-	7	2727	c.1765G>C	c.(1765-1767)Gct>Cct	p.A589P	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A589P			Q9HCM2	PLXA4_HUMAN	plexin A4	589					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGACGCCAGCTGACAGCTCC	0.592																																																0			7											66	68	67					7																	131912327		2064	4203	6267	131562867	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1765G>C	7.37:g.131912327C>G	ENSP00000352882:p.Ala589Pro		131562867	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529102	0.96446	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00976	5.48;5.48	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.03053	0.0090	L	0.59912	1.85	0.80722	D	1	P	0.50156	0.932	P	0.51701	0.677	T	0.65590	-0.6131	10	0.30078	T	0.28	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	589	Q9HCM2	PLXA4_HUMAN	P	589	ENSP00000323194:A589P;ENSP00000352882:A589P	ENSP00000323194:A589P	A	-	1	0	PLXNA4	131562867	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.731000	0.84895	2.722000	0.93159	0.655000	0.94253	GCT		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		G	131912327	C	G	131912327	3	3	338	1	0	0	0	0	1	0	0	0	12122	797	28	3	4023	3	PLXNA4	7	131912327	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	21148650	131912327	27226336	74	18152											
CNTNAP2	26047	genome.wustl.edu	37	7	146536934	146536934	+	Silent	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr7:146536934C>A	ENST00000361727.3	+	3	856	c.340C>A	c.(340-342)Cgg>Agg	p.R114R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	114	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		R -> Q (in dbSNP:rs189731792). {ECO:0000269|PubMed:18179895}.		adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R114W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACCCAATACCGGATGCTCTA	0.473										HNSCC(39;0.1)																																						1	Substitution - Missense(1)	large_intestine(1)	7											97	88	91					7																	146536934		2203	4300	6503	146167867	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.340C>A	7.37:g.146536934C>A			146167867	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	146536934	C	A	146536934	2	1	338	1	0	0	0	0	0	0	0	1	3647	643	23	3		3	CNTNAP2	7	146536934	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	14624607	146536934	12601729	75	18153											
CNTNAP2	26047	genome.wustl.edu	37	7	147926852	147926854	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	AGA	AGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr7:147926852_147926854delAGA	ENST00000361727.3	+	20	3878_3880	c.3362_3364delAGA	c.(3361-3366)gagaag>gag	p.K1122del	CNTNAP2_ENST00000538075.1_In_Frame_Del_p.K181del	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1122	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCCGCCACGAGAAGACCATCTT	0.443										HNSCC(39;0.1)																																						0			7																																								147557787	SO:0001651	inframe_deletion	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3362_3364delAGA	7.37:g.147926855_147926857delAGA	ENSP00000354778:p.Lys1122del		147557785	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	In_Frame_Del	DEL	ENST00000361727.3	37	CCDS5889.1																																																																																				0.443	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			-	147926854	AGA	-	147926852	7	5	338	1	0	1	0	1	0	0	0	0	3647	304	11	0	3440	0	CNTNAP2	7	147926852	In_Frame_Del	DEL	AGA	TCGA-29-1761-01A-01W-0633-09	1389918	147926852	11211811	76	18154											
ADAM28	10863	genome.wustl.edu	37	8	24208817	24208817	+	Silent	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr8:24208817C>A	ENST00000265769.4	+	20	2282	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.P473T|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	724					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTGTTCAACCCCAAGAGGTGA	0.463																																					NSCLC(193;488 2149 22258 34798 40734)											0			8											136	126	129					8																	24208817		2203	4300	6503	24264762	SO:0001819	synonymous_variant	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2172C>A	8.37:g.24208817C>A			24264762	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084474	0.55861	.	.	ENSG00000042980	ENST00000397649;ENST00000521629;ENST00000518326	T;T;T	0.16597	4.65;4.03;2.33	4.46	0.425	0.16473	.	.	.	.	.	T	0.14141	0.0342	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32107	-0.9919	6	0.87932	D	0	.	1.2073	0.01897	0.1757:0.4447:0.1707:0.2089	.	.	.	.	T	473;357;150	ENSP00000380770:P473T;ENSP00000429484:P357T;ENSP00000430094:P150T	ENSP00000380770:P473T	P	+	1	0	ADAM28	24264762	0.000000	0.05858	0.095000	0.20976	0.397000	0.30659	-1.830000	0.01699	0.065000	0.16485	-0.253000	0.11424	CCA		0.463	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		A	24208817	C	A	24208817	2	1	338	1	0	0	0	0	0	0	0	1	246	610	22	3		3	ADAM28	8	24208817	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09		24208817	122155205	77	18155											
ANK1	286	genome.wustl.edu	37	8	41615636	41615636	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr8:41615636A>T	ENST00000347528.4	-	2	130	c.47T>A	c.(46-48)tTt>tAt	p.F16Y	ANK1_ENST00000265709.8_Missense_Mutation_p.F49Y|ANK1_ENST00000379758.2_Missense_Mutation_p.F16Y|ANK1_ENST00000289734.7_Missense_Mutation_p.F16Y|ANK1_ENST00000396942.1_Missense_Mutation_p.F16Y|ANK1_ENST00000352337.4_Missense_Mutation_p.F16Y|ANK1_ENST00000396945.1_Missense_Mutation_p.F16Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	16	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCTCTCAGAAAGCTGGTAGC	0.522																																																0			8											239	230	233					8																	41615636		2203	4300	6503	41734793	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.47T>A	8.37:g.41615636A>T	ENSP00000339620:p.Phe16Tyr		41734793	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	A	18.62	3.662810	0.67700	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.70986	-0.52;-0.52;-0.5;-0.53;-0.49;-0.52;-0.51	5.54	5.54	0.83059	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	M	0.72624	2.21	0.80722	D	1	D;D;B;D;D	0.76494	0.998;0.999;0.185;0.964;0.999	D;D;B;D;D	0.87578	0.998;0.996;0.062;0.955;0.998	T	0.81280	-0.1004	10	0.32370	T	0.25	.	15.9708	0.80019	1.0:0.0:0.0:0.0	.	49;16;16;16;16	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	Y	16;16;16;16;16;16;49;16	ENSP00000339620:F16Y;ENSP00000289734:F16Y;ENSP00000369082:F16Y;ENSP00000380149:F16Y;ENSP00000380147:F16Y;ENSP00000309131:F16Y;ENSP00000265709:F49Y	ENSP00000265709:F49Y	F	-	2	0	ANK1	41734793	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.675000	0.74493	2.234000	0.73211	0.460000	0.39030	TTT		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41615636	A	T	41615636	3	4	338	1	0	0	0	0	1	0	0	0	620	14	1	5	6116	5	ANK1	8	41615636	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	17406819	41615636	104748386	78	18156											
TCEB1	6921	genome.wustl.edu	37	8	74868223	74868223	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr8:74868223G>C	ENST00000522337.1	-	4	390	c.71C>G	c.(70-72)tCt>tGt	p.S24C	TCEB1_ENST00000602840.1_Missense_Mutation_p.S24C|TCEB1_ENST00000520210.1_Missense_Mutation_p.S8C|TCEB1_ENST00000519487.1_Missense_Mutation_p.S24C|TCEB1_ENST00000518127.1_Missense_Mutation_p.S24C|TCEB1_ENST00000520242.1_Missense_Mutation_p.S24C|TCEB1_ENST00000284811.8_Missense_Mutation_p.S24C|TCEB1_ENST00000523815.1_Missense_Mutation_p.S24C			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	24					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			ATGGCCATCAGATGATATCAA	0.388																																																0			8											80	73	75					8																	74868223		2203	4300	6503	75030777	SO:0001583	missense	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.71C>G	8.37:g.74868223G>C	ENSP00000429906:p.Ser24Cys		75030777	E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	37	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	g	19.76	3.887323	0.72410	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082;ENST00000519021	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.56	5.56	0.83823	BTB/POZ fold (2);SKP1 component, POZ (1);	0.000000	0.64402	D	0.000002	T	0.67878	0.2940	M	0.86573	2.825	0.80722	D	1	B	0.28933	0.228	B	0.38500	0.275	T	0.69774	-0.5054	10	0.56958	D	0.05	-5.4691	19.5334	0.95239	0.0:0.0:1.0:0.0	.	24	Q15369	ELOC_HUMAN	C	24;8;24;24;24;24;24;24;24	ENSP00000428334:S24C;ENSP00000430224:S8C;ENSP00000428171:S24C;ENSP00000429596:S24C;ENSP00000284811:S24C;ENSP00000429906:S24C;ENSP00000428074:S24C;ENSP00000429789:S24C	ENSP00000284811:S24C	S	-	2	0	TCEB1	75030777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.192000	0.94947	2.616000	0.88540	0.650000	0.86243	TCT		0.388	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		C	74868223	G	C	74868223	3	2	338	1	0	0	0	0	1	0	0	0	15679	942	33	3	275	3	TCEB1	8	74868223	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	33252587	74868223	71495799	79	18157											
MMP16	4325	genome.wustl.edu	37	8	89128811	89128811	+	Silent	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr8:89128811G>A	ENST00000286614.6	-	6	1289	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	336					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GTTTGGCTCCGGGATAGGAGG	0.498																																																0			8											124	123	123					8																	89128811		2203	4300	6503	89197927	SO:0001819	synonymous_variant	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1008C>T	8.37:g.89128811G>A			89197927	B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	CCDS6246.1																																																																																				0.498	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		A	89128811	G	A	89128811	2	1	338	1	0	0	0	0	0	0	0	1	9655	1103	39	1		1	MMP16	8	89128811	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	14260588	89128811	57235211	80	18158											
DPY19L4	286148	genome.wustl.edu	37	8	95751649	95751649	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr8:95751649G>A	ENST00000414645.2	+	5	451	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	118						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AGGTGTTTACGAACTGACACA	0.313																																																0			8											84	84	84					8																	95751649		2203	4299	6502	95820825	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.352G>A	8.37:g.95751649G>A	ENSP00000389630:p.Glu118Lys		95820825	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702224|2.702224	0.48307|0.48307	.|.	.|.	ENSG00000156162|ENSG00000156162	ENST00000522422;ENST00000414645;ENST00000519176|ENST00000519353	T;T;T|.	0.54279|.	0.58;0.58;0.58|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70430|0.70430	0.3223|0.3223	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.63046|.	0.977;0.992|.	P;P|.	0.52856|.	0.5;0.711|.	T|T	0.66188|0.66188	-0.5986|-0.5986	10|5	0.06625|.	T|.	0.88|.	-18.4592|-18.4592	16.6714|16.6714	0.85268|0.85268	0.0:0.1294:0.8706:0.0|0.0:0.1294:0.8706:0.0	.|.	46;118|.	E5RGB7;Q7Z388|.	.;D19L4_HUMAN|.	K|Q	46;118;89|49	ENSP00000428762:E46K;ENSP00000389630:E118K;ENSP00000430417:E89K|.	ENSP00000389630:E118K|.	E|R	+|+	1|2	0|0	DPY19L4|DPY19L4	95820825|95820825	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.974000|0.974000	0.67602|0.67602	6.812000|6.812000	0.75226|0.75226	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.313	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		A	95751649	G	A	95751649	3	1	338	1	0	0	0	0	1	0	0	0	4743	1059	37	1	370	1	DPY19L4	8	95751649	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	6622838	95751649	50612373	81	18159											
TG	7038	genome.wustl.edu	37	8	133885425	133885425	+	Silent	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr8:133885425C>T	ENST00000220616.4	+	5	637	c.597C>T	c.(595-597)acC>acT	p.T199T	TG_ENST00000377869.1_Silent_p.T199T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	199	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGTCAACACCACAGACATGA	0.532																																																0			8											160	122	135					8																	133885425		2203	4300	6503	133954607	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.597C>T	8.37:g.133885425C>T			133954607	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																				0.532	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133885425	C	T	133885425	2	4	338	1	0	0	0	0	0	0	0	1	15813	581	21	2		2	TG	8	133885425	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	38133776	133885425	12478597	82	18160											
FAM135B	51059	genome.wustl.edu	37	8	139144851	139144851	+	Silent	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr8:139144851G>T	ENST00000395297.1	-	20	4376	c.4206C>A	c.(4204-4206)ctC>ctA	p.L1402L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1402								p.L1402L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAAGTAGTTGAGTCCTGCCA	0.517										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	ovary(2)	8											147	154	152					8																	139144851		1951	4155	6106	139214033	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4206C>A	8.37:g.139144851G>T			139214033	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.517	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139144851	G	T	139144851	2	4	338	1	0	0	0	0	0	0	0	1	5449	1277	45	3		3	FAM135B	8	139144851	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	5259426	139144851	7219171	83	18161											
TSNARE1	203062	genome.wustl.edu	37	8	143381980	143381980	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr8:143381980A>G	ENST00000307180.3	-	10	1274	c.1157T>C	c.(1156-1158)cTg>cCg	p.L386P	TSNARE1_ENST00000519651.1_Missense_Mutation_p.L167P|TSNARE1_ENST00000520166.1_Missense_Mutation_p.L386P|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Missense_Mutation_p.L385P	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	386					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ATCATCAGCCAGCTCGGCAAA	0.572																																																0			8											79	76	77					8																	143381980		2203	4300	6503	143379887	SO:0001583	missense	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1157T>C	8.37:g.143381980A>G	ENSP00000303437:p.Leu386Pro		143379887	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229949	0.39399	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.32988	2.61;2.64;2.65;1.43	4.76	4.76	0.60689	t-SNARE (1);	0.000000	0.27240	U	0.020278	T	0.29914	0.0748	M	0.65975	2.015	0.53005	D	0.999964	P;B;P;P	0.37330	0.59;0.013;0.59;0.59	B;B;B;B	0.33196	0.159;0.015;0.159;0.159	T	0.08493	-1.0719	10	0.33141	T	0.24	-23.0293	11.6678	0.51383	1.0:0.0:0.0:0.0	.	385;167;386;387	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	P	385;386;386;167	ENSP00000428763:L385P;ENSP00000303437:L386P;ENSP00000427770:L386P;ENSP00000429679:L167P	ENSP00000303437:L386P	L	-	2	0	TSNARE1	143379887	0.998000	0.40836	0.846000	0.33378	0.704000	0.40688	2.855000	0.48333	1.778000	0.52293	0.533000	0.62120	CTG		0.572	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		G	143381980	A	G	143381980	3	3	338	1	0	0	0	0	1	0	0	0	16630	188	7	4	400	4	TSNARE1	8	143381980	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	4237129	143381980	2982042	84	18162											
TRPM3	80036	genome.wustl.edu	37	9	73233960	73233960	+	Silent	SNP	G	G	A	rs371313289		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr9:73233960G>A	ENST00000377111.2	-	16	2388	c.2145C>T	c.(2143-2145)gaC>gaT	p.D715D	TRPM3_ENST00000396292.4_Silent_p.D587D|TRPM3_ENST00000377105.1_Silent_p.D574D|TRPM3_ENST00000377106.1_Silent_p.D587D|TRPM3_ENST00000396280.5_Silent_p.D564D|TRPM3_ENST00000408909.2_Silent_p.D574D|TRPM3_ENST00000360823.2_Silent_p.D577D|TRPM3_ENST00000357533.2_Silent_p.D719D|TRPM3_ENST00000358082.3_Silent_p.D577D|TRPM3_ENST00000377110.3_Silent_p.D715D|TRPM3_ENST00000423814.3_Silent_p.D742D|TRPM3_ENST00000396285.1_Silent_p.D562D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	740					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCAGCTGTTCGTCCTGCTTGT	0.562																																																0			9						G	,,,,,,	0,4406		0,0,2203	85	60	68		2145,1686,1722,1656,1692,1761,1731	-3.1	1	9		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPM3	NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	715/1708,562/1555,574/1567,552/1545,564/1557,587/1580,577/1570	73233960	1,13005	2203	4300	6503	72423780	SO:0001819	synonymous_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2145C>T	9.37:g.73233960G>A			72423780	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	G	9.322	1.058246	0.19987	0.0	1.16E-4	ENSG00000083067	ENST00000396280	.	.	.	5.55	-3.14	0.05250	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.2404	14.2483	0.66001	0.7395:0.0:0.2605:0.0	.	.	.	.	X	564	.	.	R	-	1	2	TRPM3	72423780	0.512000	0.26186	0.983000	0.44433	0.964000	0.63967	-0.072000	0.11486	-0.388000	0.07797	-0.137000	0.14449	CGA		0.562	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		A	73233960	G	A	73233960	2	1	338	1	0	0	0	0	0	0	0	1	16587	1136	40	1		1	TRPM3	9	73233960	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09		73233960	67979471	85	18163											
SVEP1	79987	genome.wustl.edu	37	9	113173686	113173686	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr9:113173686A>T	ENST00000401783.2	-	37	6641	c.6305T>A	c.(6304-6306)tTt>tAt	p.F2102Y	SVEP1_ENST00000297826.5_Missense_Mutation_p.F28Y|SVEP1_ENST00000374469.1_Missense_Mutation_p.F2079Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2102	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCAGCTGCAAATTTTGCTTT	0.463																																																0			9											44	47	46					9																	113173686		1872	4112	5984	112213507	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6305T>A	9.37:g.113173686A>T	ENSP00000384917:p.Phe2102Tyr		112213507	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742683	0.49151	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63913	-0.07;-0.07;-0.07	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.049141	0.85682	D	0.000000	T	0.42899	0.1223	N	0.05351	-0.065	0.80722	D	1	B	0.31640	0.333	B	0.34991	0.193	T	0.42766	-0.9432	10	0.07644	T	0.81	.	16.4728	0.84119	1.0:0.0:0.0:0.0	.	2102	Q4LDE5	SVEP1_HUMAN	Y	2102;2079;28	ENSP00000384917:F2102Y;ENSP00000363593:F2079Y;ENSP00000297826:F28Y	ENSP00000297826:F28Y	F	-	2	0	SVEP1	112213507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.531000	0.73820	2.296000	0.77279	0.482000	0.46254	TTT		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113173686	A	T	113173686	3	4	338	1	0	0	0	0	1	0	0	0	15420	14	1	5	4458	5	SVEP1	9	113173686	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	39939726	113173686	28039745	86	18164											
C9orf43	257169	genome.wustl.edu	37	9	116185692	116185692	+	Silent	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr9:116185692C>G	ENST00000288462.4	+	7	1016	c.570C>G	c.(568-570)acC>acG	p.T190T	C9orf43_ENST00000374165.1_Silent_p.T190T	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	190										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CTCCCCCAACCCCAGTGCAAT	0.478																																																0			9											123	108	113					9																	116185692		2203	4300	6503	115225513	SO:0001819	synonymous_variant	257169			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.570C>G	9.37:g.116185692C>G			115225513		Silent	SNP	ENST00000288462.4	37	CCDS6796.1																																																																																				0.478	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		G	116185692	C	G	116185692	2	3	338	1	0	0	0	0	0	0	0	1	2483	610	22	3		3	C9orf43	9	116185692	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	3012006	116185692	25027739	87	18165											
AMBP	259	genome.wustl.edu	37	9	116840374	116840374	+	Splice_Site	SNP	C	C	G	rs535072502		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr9:116840374C>G	ENST00000265132.3	-	1	378	c.116G>C	c.(115-117)cGg>cCg	p.R39P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	39					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGCCTTACCCGAGAGATATT	0.642																																																0			9											119	128	125					9																	116840374		2203	4300	6503	115880195	SO:0001630	splice_region_variant	259			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.117+1G>C	9.37:g.116840374C>G			115880195	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443919	0.63067	.	.	ENSG00000106927	ENST00000265132	D	0.85339	-1.97	4.39	4.39	0.52855	Lipocalin conserved site (1);Calycin-like (1);Calycin (1);	0.265000	0.37095	N	0.002248	D	0.89911	0.6852	M	0.79475	2.455	0.80722	D	1	D	0.65815	0.995	P	0.58013	0.831	D	0.90925	0.4786	10	0.72032	D	0.01	.	12.6536	0.56776	0.0:1.0:0.0:0.0	.	39	P02760	AMBP_HUMAN	P	39	ENSP00000265132:R39P	ENSP00000265132:R39P	R	-	2	0	AMBP	115880195	0.986000	0.35501	0.967000	0.41034	0.465000	0.32709	2.633000	0.46519	2.428000	0.82296	0.563000	0.77884	CGG		0.642	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633	Missense_Mutation	G	116840374	C	G	116840374	5	3	338	1	0	0	0	0	0	0	1	0	564	666	23	3	982	3	AMBP	9	116840374	Splice_Site	SNP	C	TCGA-29-1761-01A-01W-0633-09	654682	116840374	24373057	88	18166											
SETX	23064	genome.wustl.edu	37	9	135203568	135203568	+	Silent	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr9:135203568T>C	ENST00000224140.5	-	10	3599	c.3417A>G	c.(3415-3417)gaA>gaG	p.E1139E	SETX_ENST00000372169.2_Silent_p.E1139E|SETX_ENST00000393220.1_Silent_p.E1139E	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1139					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTGTGTGTTCTTCAATGCCCT	0.368																																																0			9											108	112	111					9																	135203568		2202	4299	6501	134193389	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3417A>G	9.37:g.135203568T>C			134193389	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	CCDS6947.1																																																																																				0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		C	135203568	T	C	135203568	2	2	338	1	0	0	0	0	0	0	0	1	14144	1606	56	4		4	SETX	9	135203568	Silent	SNP	T	TCGA-29-1761-01A-01W-0633-09	18363194	135203568	6009863	89	18167											
APBB1IP	54518	genome.wustl.edu	37	10	26822423	26822423	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr10:26822423T>C	ENST00000376236.4	+	9	1324	c.869T>C	c.(868-870)aTg>aCg	p.M290T		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	290					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATGAGAAAATGAATGCTAAG	0.328																																																0			10											82	81	82					10																	26822423		2203	4300	6503	26862429	SO:0001583	missense	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.869T>C	10.37:g.26822423T>C	ENSP00000365411:p.Met290Thr		26862429	Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.853375	0.51270	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.34472	1.36	5.63	5.63	0.86233	.	0.036010	0.85682	D	0.000000	T	0.44623	0.1302	M	0.63843	1.955	0.80722	D	1	D;P	0.57257	0.979;0.94	P;P	0.48304	0.573;0.514	T	0.36407	-0.9749	10	0.35671	T	0.21	.	15.8336	0.78778	0.0:0.0:0.0:1.0	.	290;290	B4E100;Q7Z5R6	.;AB1IP_HUMAN	T	290	ENSP00000365411:M290T	ENSP00000365411:M290T	M	+	2	0	APBB1IP	26862429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.873000	0.69644	2.151000	0.67156	0.528000	0.53228	ATG		0.328	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		C	26822423	T	C	26822423	3	2	338	1	0	0	0	0	1	0	0	0	760	1464	51	4	895	4	APBB1IP	10	26822423	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09		26822423	108712324	90	18168											
OR52N1	79473	genome.wustl.edu	37	11	5810026	5810026	+	Silent	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:5810026G>A	ENST00000317078.1	-	1	20	c.21C>T	c.(19-21)acC>acT	p.T7T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGTTAGGCTGGTGCCATTTA	0.403																																																0			11											69	65	66					11																	5810026		2201	4296	6497	5766602	SO:0001819	synonymous_variant	79473			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.21C>T	11.37:g.5810026G>A			5766602	Q6IFF6	Silent	SNP	ENST00000317078.1	37	CCDS31398.1																																																																																				0.403	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		A	5810026	G	A	5810026	2	1	338	1	0	0	0	0	0	0	0	1	11127	1335	47	2		2	OR52N1	11	5810026	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09		5810026	129196490	91	18169											
CTR9	9646	genome.wustl.edu	37	11	10795598	10795599	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	GA	GA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:10795598_10795599delGA	ENST00000361367.2	+	22	3193_3194	c.2767_2768delGA	c.(2767-2769)gatfs	p.D924fs		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	924	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATTTGTCAATGATGACACTGAT	0.411																																																0			11																																								10752175	SO:0001589	frameshift_variant	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2767_2768delGA	11.37:g.10795598_10795599delGA	ENSP00000355013:p.Asp924fs		10752174	D3DQV8|Q15015	Frame_Shift_Del	DEL	ENST00000361367.2	37	CCDS7805.1																																																																																				0.411	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		-	10795599	GA	-	10795598	7	5	338	1	0	1	0	1	0	0	0	0	4024	1290	45	0	2853	0	CTR9	11	10795598	Frame_Shift_Del	DEL	GA	TCGA-29-1761-01A-01W-0633-09	4985572	10795598	124210918	92	18170	25	2									
CTR9	9646	genome.wustl.edu	37	11	10795601	10795601	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:10795601G>T	ENST00000361367.2	+	22	3196	c.2770G>T	c.(2770-2772)Gac>Tac	p.D924Y		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	924	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGTCAATGATGACACTGATGA	0.403																																																0			11											189	172	178					11																	10795601		2201	4294	6495	10752177	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2770G>T	11.37:g.10795601G>T	ENSP00000355013:p.Asp924Tyr		10752177	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824304	0.90955	.	.	ENSG00000198730	ENST00000361367	T	0.50548	0.74	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.55970	0.1954	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62134	-0.6918	10	0.87932	D	0	-28.6423	20.3539	0.98825	0.0:0.0:1.0:0.0	.	924	Q6PD62	CTR9_HUMAN	Y	924	ENSP00000355013:D924Y	ENSP00000355013:D924Y	D	+	1	0	CTR9	10752177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.810000	0.91950	2.826000	0.97356	0.655000	0.94253	GAC		0.403	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		T	10795601	G	T	10795601	3	4	338	1	0	0	0	0	1	0	0	0	4024	1290	45	3	2856	3	CTR9	11	10795601	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	3	10795601	124210915	93	18171	25	2									
MRGPRX2	117194	genome.wustl.edu	37	11	19077724	19077724	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:19077724A>C	ENST00000329773.2	-	2	313	c.226T>G	c.(226-228)Ttc>Gtc	p.F76V		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	76					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGGAAGAGGAAGTCGGCCCCG	0.542																																					GBM(198;1966 2199 4849 37227 49954)											0			11											91	99	96					11																	19077724		2199	4293	6492	19034300	SO:0001583	missense	117194				CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.226T>G	11.37:g.19077724A>C	ENSP00000333800:p.Phe76Val		19034300	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	18.26	3.584232	0.65992	.	.	ENSG00000183695	ENST00000329773	T	0.21543	2.0	5.14	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.168676	0.42682	D	0.000664	T	0.45657	0.1353	M	0.82323	2.585	0.26395	N	0.976513	D	0.76494	0.999	D	0.73380	0.98	T	0.38542	-0.9656	10	0.87932	D	0	.	9.2464	0.37529	0.9145:0.0:0.0855:0.0	.	76	Q96LB1	MRGX2_HUMAN	V	76	ENSP00000333800:F76V	ENSP00000333800:F76V	F	-	1	0	MRGPRX2	19034300	0.961000	0.32948	0.198000	0.23420	0.088000	0.18126	0.465000	0.22004	1.093000	0.41377	0.533000	0.62120	TTC		0.542	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		C	19077724	A	C	19077724	3	2	338	1	0	0	0	0	1	0	0	0	9767	72	3	5	770	5	MRGPRX2	11	19077724	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	8282123	19077724	115928792	94	18172											
PRDM11	56981	genome.wustl.edu	37	11	45246143	45246143	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:45246143A>T	ENST00000530656.1	+	7	1220	c.1220A>T	c.(1219-1221)aAg>aTg	p.K407M	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.K373M|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Missense_Mutation_p.K407M			Q9NQV5	PRD11_HUMAN	PR domain containing 11	407							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGGGTCTCCAAGGAGCCAGGC	0.582																																					NSCLC(118;1511 1736 6472 36603 43224)											0			11											77	85	82					11																	45246143		2203	4299	6502	45202719	SO:0001583	missense	56981			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1220A>T	11.37:g.45246143A>T	ENSP00000435976:p.Lys407Met		45202719	Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37		.	.	.	.	.	.	.	.	.	.	A	14.10	2.434620	0.43224	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.32515	1.45;1.45;1.47	5.68	3.34	0.38264	.	0.732918	0.12568	N	0.457602	T	0.33556	0.0867	L	0.27053	0.805	0.28253	N	0.92519	P	0.46220	0.874	P	0.55999	0.789	T	0.16335	-1.0406	10	0.87932	D	0	-14.7643	5.9721	0.19359	0.7053:0.154:0.1407:0.0	.	407	Q9NQV5	PRD11_HUMAN	M	407;407;373	ENSP00000263765:K407M;ENSP00000435976:K407M;ENSP00000394314:K373M	ENSP00000263765:K407M	K	+	2	0	PRDM11	45202719	1.000000	0.71417	0.960000	0.40013	0.334000	0.28698	3.334000	0.52097	0.418000	0.25898	-0.290000	0.09829	AAG		0.582	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		T	45246143	A	T	45246143	3	4	338	1	0	0	0	0	1	0	0	0	12455	72	3	5	1246	5	PRDM11	11	45246143	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	26168419	45246143	89760373	95	18173											
OR5D16	390144	genome.wustl.edu	37	11	55606374	55606374	+	Silent	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:55606374G>A	ENST00000378396.1	+	1	147	c.147G>A	c.(145-147)gtG>gtA	p.V49V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGATGATAGTGATCATCAAAA	0.433																																																0			11											166	159	162					11																	55606374		2201	4296	6497	55362950	SO:0001819	synonymous_variant	390144			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.147G>A	11.37:g.55606374G>A			55362950	Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	CCDS31512.1																																																																																				0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		A	55606374	G	A	55606374	2	1	338	1	0	0	0	0	0	0	0	1	11156	1277	45	2		2	OR5D16	11	55606374	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	10360231	55606374	79400142	96	18174											
SPRYD5	84767	genome.wustl.edu	37	11	55655589	55655589	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:55655589C>T	ENST00000449290.2	+	4	681	c.589C>T	c.(589-591)Cac>Tac	p.H197Y	TRIM51_ENST00000244891.3_Missense_Mutation_p.H54Y	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	197						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGAGCAACATCACTTGGAAAG	0.423																																																0			11											54	52	53					11																	55655589		2201	4296	6497	55412165	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.589C>T	11.37:g.55655589C>T	ENSP00000395086:p.His197Tyr		55412165	A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	0.685	-0.796734	0.02862	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.09445	2.98;2.98	0.757	-0.564	0.11774	.	.	.	.	.	T	0.06645	0.0170	N	0.26092	0.79	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.37979	-0.9682	9	0.46703	T	0.11	.	3.0822	0.06266	0.0:0.6202:0.0:0.3798	.	197	Q9BSJ1	SPRY5_HUMAN	Y	197;54	ENSP00000395086:H197Y;ENSP00000244891:H54Y	ENSP00000244891:H54Y	H	+	1	0	SPRYD5	55412165	0.000000	0.05858	0.002000	0.10522	0.453000	0.32348	0.087000	0.14958	-0.144000	0.11314	0.152000	0.16155	CAC		0.423	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		T	55655589	C	T	55655589	3	4	338	1	0	0	0	0	1	0	0	0	15113	826	29	2	599	2	SPRYD5	11	55655589	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	49215	55655589	79350927	97	18175											
OR5B2	390190	genome.wustl.edu	37	11	58190229	58190229	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:58190229G>A	ENST00000302581.2	-	1	557	c.506C>T	c.(505-507)tCc>tTc	p.S169F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACCAGATTGGATTTACAGAA	0.458																																																0			11											62	57	59					11																	58190229		2201	4295	6496	57946805	SO:0001583	missense	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.506C>T	11.37:g.58190229G>A	ENSP00000303076:p.Ser169Phe		57946805	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	G	4.985	0.182974	0.09495	.	.	ENSG00000172365	ENST00000302581	T	0.38887	1.11	3.73	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.232106	0.22100	N	0.064624	T	0.44350	0.1289	M	0.81239	2.535	0.19775	N	0.999955	B	0.23990	0.095	B	0.30316	0.114	T	0.47275	-0.9130	10	0.62326	D	0.03	-6.1343	7.1028	0.25346	0.1034:0.1753:0.7212:0.0	.	169	Q96R09	OR5B2_HUMAN	F	169	ENSP00000303076:S169F	ENSP00000303076:S169F	S	-	2	0	OR5B2	57946805	0.927000	0.31430	0.041000	0.18516	0.001000	0.01503	5.302000	0.65733	0.925000	0.37094	-0.225000	0.12378	TCC		0.458	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		A	58190229	G	A	58190229	3	1	338	1	0	0	0	0	1	0	0	0	11150	1174	41	2	427	2	OR5B2	11	58190229	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	2534640	58190229	76816287	98	18176											
OR4D9	390199	genome.wustl.edu	37	11	59282496	59282496	+	Silent	SNP	A	A	T	rs142030077	byFrequency	TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:59282496A>T	ENST00000329328.3	+	1	111	c.111A>T	c.(109-111)acA>acT	p.T37T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGTACATGACAACTCTAATGG	0.433																																																0			11											210	205	207					11																	59282496		2201	4295	6496	59039072	SO:0001819	synonymous_variant	390199			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.111A>T	11.37:g.59282496A>T			59039072	Q6IFF3	Silent	SNP	ENST00000329328.3	37	CCDS31564.1																																																																																				0.433	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		T	59282496	A	T	59282496	2	4	338	1	0	0	0	0	0	0	0	1	11059	117	5	5		5	OR4D9	11	59282496	Silent	SNP	A	TCGA-29-1761-01A-01W-0633-09	1092267	59282496	75724020	99	18177											
STIP1	10963	genome.wustl.edu	37	11	63970358	63970358	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:63970358A>T	ENST00000305218.4	+	11	1403	c.1256A>T	c.(1255-1257)gAa>gTa	p.E419V	STIP1_ENST00000538945.1_Missense_Mutation_p.E395V|STIP1_ENST00000358794.5_Missense_Mutation_p.E466V	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	419					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GACTGTGAGGAATGTATCCAG	0.478																																																0			11											227	207	214					11																	63970358		2201	4297	6498	63726934	SO:0001583	missense	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1256A>T	11.37:g.63970358A>T	ENSP00000305958:p.Glu419Val		63726934	B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592016	0.66219	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000540887	T;T;T;T	0.62364	0.19;0.19;0.19;0.03	5.0	5.0	0.66597	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.105127	0.64402	D	0.000007	T	0.57621	0.2066	L	0.50333	1.59	0.80722	D	1	P;P	0.37276	0.534;0.589	B;B	0.36766	0.149;0.232	T	0.63897	-0.6533	10	0.72032	D	0.01	-29.7222	13.9993	0.64424	1.0:0.0:0.0:0.0	.	395;419	F5H0T1;P31948	.;STIP1_HUMAN	V	466;419;395;18	ENSP00000351646:E466V;ENSP00000305958:E419V;ENSP00000445957:E395V;ENSP00000443416:E18V	ENSP00000305958:E419V	E	+	2	0	STIP1	63726934	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	6.474000	0.73578	2.027000	0.59764	0.459000	0.35465	GAA		0.478	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		T	63970358	A	T	63970358	3	4	338	1	0	0	0	0	1	0	0	0	15287	246	9	5	1298	5	STIP1	11	63970358	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	4687862	63970358	71036158	100	18178											
USP35	57558	genome.wustl.edu	37	11	77921373	77921373	+	Silent	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:77921373G>T	ENST00000529308.1	+	10	2733	c.2472G>T	c.(2470-2472)ctG>ctT	p.L824L	USP35_ENST00000530267.1_Silent_p.L392L|USP35_ENST00000441408.2_Silent_p.L410L|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.L555L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	824	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCAAGATCCTGGATGACGTCT	0.637																																																0			11											86	93	91					11																	77921373		2127	4207	6334	77599021	SO:0001819	synonymous_variant	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2472G>T	11.37:g.77921373G>T			77599021		Silent	SNP	ENST00000529308.1	37	CCDS41693.1																																																																																				0.637	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		T	77921373	G	T	77921373	2	4	338	1	0	0	0	0	0	0	0	1	17066	1335	47	3		3	USP35	11	77921373	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	13951015	77921373	57085143	101	18179											
HEPHL1	341208	genome.wustl.edu	37	11	93796810	93796810	+	Missense_Mutation	SNP	G	G	C	rs373309363		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:93796810G>C	ENST00000315765.9	+	3	560	c.552G>C	c.(550-552)tgG>tgC	p.W184C		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	184	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCTGACCTGGGTGTACCATT	0.527																																																0			11											102	102	102					11																	93796810		1975	4164	6139	93436458	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.552G>C	11.37:g.93796810G>C	ENSP00000313699:p.Trp184Cys		93436458	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477430	0.84640	.	.	ENSG00000181333	ENST00000315765	D	0.99264	-5.65	5.42	5.42	0.78866	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98565	1.0643	10	0.66056	D	0.02	.	19.2305	0.93836	0.0:0.0:1.0:0.0	.	184	Q6MZM0	HPHL1_HUMAN	C	184	ENSP00000313699:W184C	ENSP00000313699:W184C	W	+	3	0	HEPHL1	93436458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.515000	0.98015	2.549000	0.85964	0.655000	0.94253	TGG		0.527	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		C	93796810	G	C	93796810	3	2	338	1	0	0	0	0	1	0	0	0	7055	1241	43	3	562	3	HEPHL1	11	93796810	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	15875437	93796810	41209706	102	18180											
USP28	57646	genome.wustl.edu	37	11	113694327	113694327	+	Splice_Site	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:113694327C>G	ENST00000003302.4	-	12	1351	c.1283G>C	c.(1282-1284)aGg>aCg	p.R428T	USP28_ENST00000544967.1_Splice_Site_p.R136T|USP28_ENST00000260188.5_Splice_Site_p.R428T|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000545540.1_Splice_Site_p.R303T|USP28_ENST00000537706.1_Splice_Site_p.R428T	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	428	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAAAACTCACCTTTCCAATTT	0.299																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0			11											97	88	91					11																	113694327		2200	4294	6494	113199537	SO:0001630	splice_region_variant	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1283+1G>C	11.37:g.113694327C>G			113199537	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.05|14.05	2.418436|2.418436	0.42918|0.42918	.|.	.|.	ENSG00000048028|ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000537706|ENST00000538475	T;T;T;T;T|T	0.74315|0.44881	1.4;1.39;0.8;1.41;-0.83|0.91	4.97|4.97	4.97|4.97	0.65823|0.65823	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.140253|.	0.64402|.	D|.	0.000002|.	T|T	0.45498|0.45498	0.1345|0.1345	L|L	0.42245|0.42245	1.32|1.32	0.51482|0.51482	D|D	0.999925|0.999925	P;P;P;P|.	0.47910|.	0.746;0.902;0.804;0.702|.	B;P;P;B|.	0.50537|.	0.372;0.643;0.643;0.255|.	T|T	0.21621|0.21621	-1.0240|-1.0240	9|6	.|.	.|.	.|.	-19.4849|-19.4849	12.7991|12.7991	0.57576|0.57576	0.0:0.9217:0.0:0.0783|0.0:0.9217:0.0:0.0783	.|.	303;428;428;136|.	B4E3L3;Q6NZX9;Q96RU2;G3V1N5|.	.;.;UBP28_HUMAN;.|.	T|T	428;428;136;303;428|192	ENSP00000003302:R428T;ENSP00000260188:R428T;ENSP00000442431:R136T;ENSP00000444991:R303T;ENSP00000445743:R428T|ENSP00000442257:S192T	.|.	R|S	-|-	2|2	0|0	USP28|USP28	113199537|113199537	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.367000|0.367000	0.29736|0.29736	5.238000|5.238000	0.65366|0.65366	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	AGG|AGT		0.299	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Missense_Mutation	G	113694327	C	G	113694327	5	3	338	1	0	0	0	0	0	0	1	0	17058	695	24	3	2006	3	USP28	11	113694327	Splice_Site	SNP	C	TCGA-29-1761-01A-01W-0633-09	19897517	113694327	21312189	103	18181											
HEPN1	641654	genome.wustl.edu	37	11	124789844	124789844	+	Silent	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:124789844C>T	ENST00000408930.5	+	1	699	c.198C>T	c.(196-198)ttC>ttT	p.F66F	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	66						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ATGAACTGTTCAATAGGCGGT	0.502																																																0			11											87	87	87					11																	124789844		1910	4134	6044	124295054	SO:0001819	synonymous_variant	641654			BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"cancer susceptibility gene HEPN1"	611641	"HEPACAM opposite strand 1"			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939	ENST00000408930.5:c.198C>T	11.37:g.124789844C>T			124295054		Silent	SNP	ENST00000408930.5	37	CCDS41729.1																																																																																				0.502	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		T	124789844	C	T	124789844	2	4	338	1	0	0	0	0	0	0	0	1	7056	825	29	2		2	HEPN1	11	124789844	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	11095517	124789844	10216672	104	18182											
ETS1	2113	genome.wustl.edu	37	11	128359375	128359375	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr11:128359375C>A	ENST00000319397.6	-	3	522	c.213G>T	c.(211-213)caG>caT	p.Q71H	ETS1_ENST00000535549.1_Intron|ETS1_ENST00000345075.4_Missense_Mutation_p.Q71H|ETS1_ENST00000392668.4_Missense_Mutation_p.Q115H|ETS1_ENST00000531611.1_Missense_Mutation_p.Q71H|ETS1_ENST00000526145.2_Missense_Mutation_p.Q71H	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	71	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TTTCTGTCCACTGCCGGGGGT	0.507																																																0			11											60	63	62					11																	128359375		2201	4297	6498	127864585	SO:0001583	missense	2113				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.213G>T	11.37:g.128359375C>A	ENSP00000324578:p.Gln71His		127864585	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664183	0.47572	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.57	4.46	0.54185	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.118924	0.56097	D	0.000021	T	0.30386	0.0763	L	0.46741	1.465	0.80722	D	1	P;B;P	0.44734	0.617;0.388;0.842	B;B;B	0.44108	0.348;0.329;0.441	T	0.02075	-1.1218	10	0.40728	T	0.16	.	11.7871	0.52049	0.0:0.8494:0.0:0.1506	.	71;71;115	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	H	71;115;71;71;71	ENSP00000340485:Q71H;ENSP00000376436:Q115H;ENSP00000435666:Q71H;ENSP00000324578:Q71H;ENSP00000433500:Q71H	ENSP00000324578:Q71H	Q	-	3	2	ETS1	127864585	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.698000	0.37794	2.618000	0.88619	0.655000	0.94253	CAG		0.507	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		A	128359375	C	A	128359375	3	1	338	1	0	0	0	0	1	0	0	0	5275	564	20	3	1136	3	ETS1	11	128359375	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	3569531	128359375	6647141	105	18183											
VWF	7450	genome.wustl.edu	37	12	6094775	6094775	+	Silent	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr12:6094775G>A	ENST00000261405.5	-	39	7109	c.6855C>T	c.(6853-6855)agC>agT	p.S2285S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2285	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTTCCGCCCGCTGAGGCATG	0.622																																																0			12											61	54	56					12																	6094775		2203	4300	6503	5965036	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6855C>T	12.37:g.6094775G>A			5965036	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6094775	G	A	6094775	2	1	338	1	0	0	0	0	0	0	0	1	17246	1078	38	1		1	VWF	12	6094775	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09		6094775	127757120	106	18184											
PDZRN4	29951	genome.wustl.edu	37	12	41966724	41966724	+	Missense_Mutation	SNP	G	G	C	rs187126321		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr12:41966724G>C	ENST00000402685.2	+	10	2151	c.2143G>C	c.(2143-2145)Gat>Cat	p.D715H	PDZRN4_ENST00000539469.2_Missense_Mutation_p.D457H|PDZRN4_ENST00000298919.7_Missense_Mutation_p.D455H	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	715							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CACCAGCATAGATATGCAAAG	0.458																																																0			12											106	110	108					12																	41966724		2203	4300	6503	40252991	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2143G>C	12.37:g.41966724G>C	ENSP00000384197:p.Asp715His		40252991	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	2.171	-0.389838	0.04932	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73575	-0.76;3.72;3.71	4.64	3.75	0.43078	.	0.073915	0.56097	D	0.000037	T	0.75752	0.3892	M	0.74647	2.275	0.09310	N	0.999997	B;B;B	0.23377	0.084;0.08;0.039	B;B;B	0.35727	0.021;0.209;0.099	T	0.71083	-0.4695	10	0.87932	D	0	-31.7412	9.6222	0.39727	0.1634:0.0:0.8366:0.0	.	715;455;457	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	H	715;457;455	ENSP00000384197:D715H;ENSP00000439990:D457H;ENSP00000298919:D455H	ENSP00000298919:D455H	D	+	1	0	PDZRN4	40252991	0.997000	0.39634	0.015000	0.15790	0.030000	0.12068	3.591000	0.53986	1.272000	0.44329	0.650000	0.86243	GAT		0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		C	41966724	G	C	41966724	3	2	338	1	0	0	0	0	1	0	0	0	11710	942	33	3	2254	3	PDZRN4	12	41966724	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	35871949	41966724	91885171	107	18185											
C12orf41	54934	genome.wustl.edu	37	12	49072874	49072874	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr12:49072874C>G	ENST00000420613.2	-	4	537	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R	KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000553086.1_Missense_Mutation_p.G164R|KANSL2_ENST00000550347.1_Missense_Mutation_p.G347R	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	164					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											TCAGGGTCACCTCTCCATGTC	0.468																																																0			12											111	108	108					12																	49072874		2041	4204	6245	47359141	SO:0001583	missense	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.490G>C	12.37:g.49072874C>G	ENSP00000415436:p.Gly164Arg		47359141	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297875	0.95574	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550931	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.976	D	0.87838	0.2649	10	0.72032	D	0.01	-4.8654	18.9699	0.92711	0.0:1.0:0.0:0.0	.	347;164	F8VX10;Q9H9L4	.;CL041_HUMAN	R	347;164;164;101	ENSP00000449747:G347R;ENSP00000415436:G164R;ENSP00000448833:G164R;ENSP00000448129:G101R	ENSP00000415436:G164R	G	-	1	0	C12orf41	47359141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.715000	0.84713	2.767000	0.95098	0.563000	0.77884	GGT		0.468	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		G	49072874	C	G	49072874	3	3	338	1	0	0	0	0	1	0	0	0	1687	681	24	3	1016	3	C12orf41	12	49072874	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	7106150	49072874	84779021	108	18186											
RARG	5916	genome.wustl.edu	37	12	53607361	53607361	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr12:53607361C>G	ENST00000425354.2	-	8	1424	c.937G>C	c.(937-939)Gcc>Ccc	p.A313P	RARG_ENST00000327550.3_Missense_Mutation_p.A241P|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.A313P|RARG_ENST00000543726.1_Missense_Mutation_p.A291P|RARG_ENST00000338561.5_Missense_Mutation_p.A302P	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	313	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCAGCAAAGGCAAAGACAAGG	0.657											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			12											73	67	69					12																	53607361		2203	4300	6503	51893628	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.937G>C	12.37:g.53607361C>G	ENSP00000388510:p.Ala313Pro	993	51893628	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988657	0.53934	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.21	4.31	0.51392	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	L	0.58583	1.82	0.80722	D	1	B;D;D;B	0.71674	0.033;0.996;0.998;0.012	B;P;P;B	0.60117	0.032;0.865;0.869;0.04	D	0.96915	0.9670	10	0.56958	D	0.05	.	15.057	0.71921	0.0:0.8568:0.1431:0.0	.	350;291;313;302	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	P	313;313;75;241;302;291;350	ENSP00000388510:A313P;ENSP00000377947:A313P;ENSP00000332695:A241P;ENSP00000343698:A302P;ENSP00000444335:A291P	ENSP00000332695:A241P	A	-	1	0	RARG	51893628	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.214000	0.42853	1.314000	0.45095	0.467000	0.42956	GCC		0.657	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		G	53607361	C	G	53607361	3	3	338	1	0	0	0	0	1	0	0	0	13057	710	25	3	439	3	RARG	12	53607361	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	4534487	53607361	80244534	109	18187											
GLT8D2	83468	genome.wustl.edu	37	12	104393203	104393203	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr12:104393203T>A	ENST00000360814.4	-	6	779	c.374A>T	c.(373-375)gAc>gTc	p.D125V	GLT8D2_ENST00000546436.1_Missense_Mutation_p.D125V|GLT8D2_ENST00000548660.1_Missense_Mutation_p.D125V	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	125						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCTCGATGAGTCTGGTCTGAT	0.448																																																0			12											203	186	192					12																	104393203		2203	4300	6503	102917333	SO:0001583	missense	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.374A>T	12.37:g.104393203T>A	ENSP00000354053:p.Asp125Val		102917333	Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257158	0.80246	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660;ENST00000546851	T;T;T	0.44881	0.91;0.91;0.91	5.79	5.79	0.91817	.	0.043969	0.85682	D	0.000000	T	0.66187	0.2764	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67948	-0.5538	10	0.48119	T	0.1	.	16.1252	0.81386	0.0:0.0:0.0:1.0	.	125	Q9H1C3	GL8D2_HUMAN	V	125;125;125;64	ENSP00000354053:D125V;ENSP00000449750:D125V;ENSP00000447450:D125V	ENSP00000354053:D125V	D	-	2	0	GLT8D2	102917333	1.000000	0.71417	0.892000	0.35008	0.716000	0.41182	5.409000	0.66374	2.214000	0.71695	0.533000	0.62120	GAC		0.448	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		A	104393203	T	A	104393203	3	1	338	1	0	0	0	0	1	0	0	0	6470	1667	58	5	699	5	GLT8D2	12	104393203	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	50785842	104393203	29458692	110	18188											
BTBD11	121551	genome.wustl.edu	37	12	108012053	108012053	+	Missense_Mutation	SNP	G	G	A	rs202066069	byFrequency	TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr12:108012053G>A	ENST00000280758.5	+	10	2878	c.2350G>A	c.(2350-2352)Gcc>Acc	p.A784T	BTBD11_ENST00000357167.4_Missense_Mutation_p.A321T|BTBD11_ENST00000420571.2_Intron|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.A784T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	784						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCCTTGTGCGCCAGCCGCAA	0.607																																																0			12											47	45	46					12																	108012053		2203	4300	6503	106536183	SO:0001583	missense	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2350G>A	12.37:g.108012053G>A	ENSP00000280758:p.Ala784Thr		106536183	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021582	0.54576	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.39406	1.31;1.34;1.08	5.07	5.07	0.68467	.	0.445655	0.26734	N	0.022777	T	0.16514	0.0397	N	0.03324	-0.35	0.80722	D	1	B;P;P	0.36465	0.203;0.458;0.554	B;B;B	0.22753	0.028;0.041;0.026	T	0.17501	-1.0367	10	0.15066	T	0.55	.	13.7435	0.62862	0.0:0.0:0.8461:0.1539	.	321;784;784	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	T	784;784;321	ENSP00000280758:A784T;ENSP00000447319:A784T;ENSP00000349690:A321T	ENSP00000280758:A784T	A	+	1	0	BTBD11	106536183	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.920000	0.40025	2.509000	0.84616	0.563000	0.77884	GCC		0.607	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		A	108012053	G	A	108012053	3	1	338	1	0	0	0	0	1	0	0	0	1539	1087	38	1	2493	1	BTBD11	12	108012053	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	3618850	108012053	25839842	111	18189											
TBX5	6910	genome.wustl.edu	37	12	114823299	114823299	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr12:114823299C>A	ENST00000310346.4	-	7	1403	c.737G>T	c.(736-738)aGa>aTa	p.R246I	TBX5_ENST00000526441.1_Missense_Mutation_p.R246I|TBX5_ENST00000349716.5_Missense_Mutation_p.R196I|TBX5_ENST00000405440.2_Missense_Mutation_p.R246I	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	246					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCTTGACATTCTGTGCAGCTC	0.468																																					NSCLC(152;1358 1980 4050 23898 40356)											0			12											168	138	148					12																	114823299		2203	4300	6503	113307682	SO:0001583	missense	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.737G>T	12.37:g.114823299C>A	ENSP00000309913:p.Arg246Ile		113307682	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952601	0.92660	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.27	5.27	0.74061	.	0.150287	0.64402	D	0.000012	D	0.91355	0.7273	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.971	D	0.92178	0.5749	10	0.72032	D	0.01	.	18.8883	0.92388	0.0:1.0:0.0:0.0	.	246;246	Q99593-2;Q99593	.;TBX5_HUMAN	I	196;246;143;246;246	ENSP00000337723:R196I;ENSP00000309913:R246I;ENSP00000384152:R246I;ENSP00000433292:R246I	ENSP00000309913:R246I	R	-	2	0	TBX5	113307682	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.400000	0.79949	2.472000	0.83506	0.563000	0.77884	AGA		0.468	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		A	114823299	C	A	114823299	3	1	338	1	0	0	0	0	1	0	0	0	15661	913	32	3	898	3	TBX5	12	114823299	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	6811246	114823299	19028596	112	18190											
EDNRB	1910	genome.wustl.edu	37	13	78474768	78474768	+	Missense_Mutation	SNP	C	C	T	rs201437745		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr13:78474768C>T	ENST00000334286.5	-	5	1209	c.973G>A	c.(973-975)Gtc>Atc	p.V325I	EDNRB_ENST00000446573.1_Missense_Mutation_p.V325I|EDNRB_ENST00000377211.4_Missense_Mutation_p.V415I	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	325					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.V415I(1)|p.V325I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGGCAAAAGACGGTTTTGGCC	0.418																																																2	Substitution - Missense(2)	lung(2)	13											90	97	95					13																	78474768		2203	4300	6503	77372769	SO:0001583	missense	1910			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.973G>A	13.37:g.78474768C>T	ENSP00000335311:p.Val325Ile		77372769	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196762	0.94960	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.36878	1.23;1.23;1.23	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.73753	2.245	0.80722	D	1	D;P;D	0.76494	0.998;0.87;0.999	D;B;D	0.67900	0.923;0.292;0.954	T	0.64445	-0.6406	10	0.72032	D	0.01	-17.6334	19.5514	0.95322	0.0:1.0:0.0:0.0	.	325;415;325	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	I	415;325;325	ENSP00000366416:V415I;ENSP00000403401:V325I;ENSP00000335311:V325I	ENSP00000335311:V325I	V	-	1	0	EDNRB	77372769	1.000000	0.71417	0.558000	0.28319	0.981000	0.71138	7.445000	0.80570	2.705000	0.92388	0.650000	0.86243	GTC		0.418	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			T	78474768	C	T	78474768	3	4	338	1	0	0	0	0	1	0	0	0	4920	536	19	1	488	1	EDNRB	13	78474768	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09		78474768	36695110	113	18191											
OR4K2	390431	genome.wustl.edu	37	14	20344506	20344506	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr14:20344506T>C	ENST00000298642.2	+	1	116	c.80T>C	c.(79-81)tTc>tCc	p.F27S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGATGTTTTTCTTTATGGTG	0.413																																																0			14											250	265	260					14																	20344506		2203	4300	6503	19414346	SO:0001583	missense	390431				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.80T>C	14.37:g.20344506T>C	ENSP00000298642:p.Phe27Ser		19414346	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	13.06	2.123776	0.37436	.	.	ENSG00000165762	ENST00000298642	T	0.03065	4.06	5.4	1.67	0.24075	.	0.263390	0.27155	N	0.020664	T	0.05044	0.0135	M	0.65677	2.01	0.32579	N	0.528701	B	0.10296	0.003	B	0.18561	0.022	T	0.05053	-1.0909	10	0.72032	D	0.01	.	5.1114	0.14811	0.2789:0.0778:0.0:0.6434	.	27	Q8NGD2	OR4K2_HUMAN	S	27	ENSP00000298642:F27S	ENSP00000298642:F27S	F	+	2	0	OR4K2	19414346	0.000000	0.05858	0.998000	0.56505	0.959000	0.62525	0.218000	0.17622	0.124000	0.18369	-0.301000	0.09380	TTC		0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			C	20344506	T	C	20344506	3	2	338	1	0	0	0	0	1	0	0	0	11072	1783	62	4	82	4	OR4K2	14	20344506	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09		20344506	87005034	114	18192											
NOVA1	4857	genome.wustl.edu	37	14	26917862	26917862	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr14:26917862G>T	ENST00000539517.2	-	5	1144	c.827C>A	c.(826-828)gCt>gAt	p.A276D	NOVA1_ENST00000267422.7_Missense_Mutation_p.A154D|NOVA1_ENST00000465357.2_Missense_Mutation_p.A252D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	279	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TAACACTTCAGCAGTGTTTGC	0.498																																																0			14											120	111	114					14																	26917862		2203	4300	6503	25987702	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.827C>A	14.37:g.26917862G>T	ENSP00000438875:p.Ala276Asp		25987702	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888910	0.72524	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.33865	1.44;1.45;1.4;1.39	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.40543	1.245	0.80722	D	1	P;P;P	0.52842	0.956;0.745;0.904	B;B;P	0.46718	0.444;0.247;0.525	T	0.04454	-1.0950	10	0.11794	T	0.64	-1.2449	19.8956	0.96956	0.0:0.0:1.0:0.0	.	279;252;276	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	D	252;276;154;235	ENSP00000447391:A252D;ENSP00000438875:A276D;ENSP00000267422:A154D;ENSP00000408914:A235D	ENSP00000267422:A154D	A	-	2	0	NOVA1	25987702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.918000	0.87506	2.708000	0.92522	0.563000	0.77884	GCT		0.498	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		T	26917862	G	T	26917862	3	4	338	1	0	0	0	0	1	0	0	0	10554	971	34	3	700	3	NOVA1	14	26917862	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	6573356	26917862	80431678	115	18193											
PSMA3	5684	genome.wustl.edu	37	14	58711653	58711653	+	Silent	SNP	C	C	G	rs368712816		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr14:58711653C>G	ENST00000216455.4	+	1	105	c.15C>G	c.(13-15)ggC>ggG	p.G5G	PSMA3_ENST00000557508.1_5'UTR|PSMA3_ENST00000554456.1_3'UTR|PSMA3_ENST00000412908.2_Silent_p.G5G	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GCTCAATCGGCACTGGGGTGA	0.572																																																0			14											130	119	123					14																	58711653		2203	4300	6503	57781406	SO:0001819	synonymous_variant	5684				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"Proteasome (prosome, macropain) subunits"	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.15C>G	14.37:g.58711653C>G			57781406	B2RCK6|Q86U83|Q8N1D8|Q9BS70	Silent	SNP	ENST00000216455.4	37	CCDS9731.1																																																																																				0.572	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788		G	58711653	C	G	58711653	2	3	338	1	0	0	0	0	0	0	0	1	12671	697	25	3		3	PSMA3	14	58711653	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	31793791	58711653	48637887	116	18194											
C14orf68	283600	genome.wustl.edu	37	14	100795855	100795855	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr14:100795855G>A	ENST00000361529.3	+	6	878	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	SLC25A47_ENST00000557052.1_Missense_Mutation_p.R121Q	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	267					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						ACCAGCGTTCGAGAGGAGGGA	0.627																																					GBM(11;1289 1351)											0			14											60	64	63					14																	100795855		2203	4300	6503	99865608	SO:0001583	missense	283600				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.800G>A	14.37:g.100795855G>A	ENSP00000354886:p.Arg267Gln		99865608	B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584514	0.28268	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	T;T	0.79749	-1.3;-1.3	5.38	3.21	0.36854	Mitochondrial carrier domain (2);	0.093578	0.64402	N	0.000002	D	0.84347	0.5452	L	0.52905	1.665	0.25873	N	0.98369	D	0.61697	0.99	D	0.63488	0.915	T	0.75986	-0.3124	10	0.29301	T	0.29	-8.3536	13.1159	0.59299	0.153:0.0:0.8469:0.0	.	267	Q6Q0C1	S2547_HUMAN	Q	267;121	ENSP00000354886:R267Q;ENSP00000451078:R121Q	ENSP00000354886:R267Q	R	+	2	0	SLC25A47	99865608	0.686000	0.27661	0.026000	0.17262	0.012000	0.07955	3.135000	0.50546	1.274000	0.44362	-0.234000	0.12200	CGA		0.627	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			A	100795855	G	A	100795855	3	1	338	1	0	0	0	0	1	0	0	0	1778	1058	37	1	822	1	C14orf68	14	100795855	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	42084202	100795855	6553685	117	18195											
RYR3	6263	genome.wustl.edu	37	15	33842382	33842382	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr15:33842382A>T	ENST00000389232.4	+	10	907	c.837A>T	c.(835-837)agA>agT	p.R279S	RYR3_ENST00000415757.3_Missense_Mutation_p.R279S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	279	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTAACATCAGATGGGGCCAGG	0.468																																																0			15											38	41	40					15																	33842382		2184	4290	6474	31629674	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.837A>T	15.37:g.33842382A>T	ENSP00000373884:p.Arg279Ser		31629674	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736723	0.49045	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.86366	-2.11;-2.11	5.38	-1.27	0.09347	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	L	0.47716	1.5	0.46927	D	0.99925	P;P	0.52692	0.873;0.955	B;P	0.51615	0.306;0.675	T	0.75337	-0.3353	10	0.09843	T	0.71	.	1.7667	0.03003	0.437:0.2262:0.226:0.1107	.	279;279	Q15413-2;Q15413	.;RYR3_HUMAN	S	279	ENSP00000373884:R279S;ENSP00000399610:R279S	ENSP00000354735:R279S	R	+	3	2	RYR3	31629674	0.977000	0.34250	0.997000	0.53966	0.979000	0.70002	0.240000	0.18042	-0.105000	0.12132	0.533000	0.62120	AGA		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33842382	A	T	33842382	3	4	338	1	0	0	0	0	1	0	0	0	13773	330	12	5	875	5	RYR3	15	33842382	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09		33842382	68689010	118	18196											
TLN2	83660	genome.wustl.edu	37	15	63029165	63029165	+	Silent	SNP	C	C	T	rs376384348		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr15:63029165C>T	ENST00000561311.1	+	28	3677	c.3447C>T	c.(3445-3447)gcC>gcT	p.A1149A	TLN2_ENST00000306829.6_Silent_p.A1149A|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1149	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACCCCGCGGCCGCCCATGCCA	0.622																																																0			15						T		1,4405	2.1+/-5.4	0,1,2202	37	39	39		3447	-9.3	0	15		39	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TLN2	NM_015059.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		1149/2543	63029165	3,13003	2203	4300	6503	60816457	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3447C>T	15.37:g.63029165C>T			60816457	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.622	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			T	63029165	C	T	63029165	2	4	338	1	0	0	0	0	0	0	0	1	15948	639	23	1		1	TLN2	15	63029165	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	29186783	63029165	39502227	119	18197											
SGK269	79834	genome.wustl.edu	37	15	77473079	77473079	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr15:77473079T>C	ENST00000560626.2	-	4	1665	c.1190A>G	c.(1189-1191)aAa>aGa	p.K397R	PEAK1_ENST00000558305.1_Missense_Mutation_p.K397R|PEAK1_ENST00000312493.4_Missense_Mutation_p.K397R			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	397	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGATGAATCTTTATCCTGATT	0.408																																																0			15											119	106	110					15																	77473079		1826	4083	5909	75260134	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1190A>G	15.37:g.77473079T>C	ENSP00000452796:p.Lys397Arg		75260134	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	6.809	0.518393	0.13005	.	.	ENSG00000173517	ENST00000312493	T	0.70869	-0.52	4.53	3.37	0.38596	.	0.835399	0.09037	U	0.857798	T	0.59689	0.2212	N	0.24115	0.695	0.31767	N	0.632561	B	0.27853	0.191	B	0.30943	0.122	T	0.60084	-0.7332	10	0.62326	D	0.03	.	9.8411	0.40999	0.0:0.0:0.1728:0.8272	.	397	Q9H792	PEAK1_HUMAN	R	397	ENSP00000309230:K397R	ENSP00000309230:K397R	K	-	2	0	AC087465.1	75260134	0.914000	0.31030	0.940000	0.37924	0.148000	0.21650	1.492000	0.35594	0.576000	0.29452	0.454000	0.30748	AAA		0.408	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			C	77473079	T	C	77473079	3	2	338	1	0	0	0	0	1	0	0	0	14214	1841	64	4	4066	4	SGK269	15	77473079	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	14443914	77473079	25058313	120	18198											
AGBL1	123624	genome.wustl.edu	37	15	86807739	86807739	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr15:86807739G>T	ENST00000441037.2	+	10	1294	c.1199G>T	c.(1198-1200)aGt>aTt	p.S400I	AGBL1_ENST00000389298.3_Missense_Mutation_p.S131I|AGBL1_ENST00000421325.2_Missense_Mutation_p.S400I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	400					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAATCCAATAGTCTCAGGAGA	0.478																																																0			15											63	66	65					15																	86807739		1919	4147	6066	84608743	SO:0001583	missense	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1199G>T	15.37:g.86807739G>T	ENSP00000413001:p.Ser400Ile		84608743	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810754	0.32053	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10382	2.89;2.88	5.71	0.603	0.17541	Armadillo-type fold (1);	0.847717	0.10648	N	0.650196	T	0.05868	0.0153	N	0.19112	0.55	0.09310	N	1	P;B;B	0.38420	0.63;0.418;0.044	B;B;B	0.31812	0.136;0.122;0.027	T	0.40403	-0.9565	10	0.22109	T	0.4	-6.4063	9.2564	0.37586	0.3832:0.0:0.6168:0.0	.	99;131;400	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	I	429;400;131	ENSP00000397173:S400I;ENSP00000373949:S131I	ENSP00000373949:S131I	S	+	2	0	AGBL1	84608743	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.165000	0.16564	0.150000	0.19136	-0.143000	0.13931	AGT		0.478	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		T	86807739	G	T	86807739	3	4	338	1	0	0	0	0	1	0	0	0	375	1029	36	3	1233	3	AGBL1	15	86807739	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	9334660	86807739	15723653	121	18199											
BFAR	51283	genome.wustl.edu	37	16	14738296	14738296	+	Silent	SNP	A	A	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr16:14738296A>G	ENST00000261658.2	+	2	370	c.93A>G	c.(91-93)gaA>gaG	p.E31E	BFAR_ENST00000563971.1_Silent_p.E31E|BFAR_ENST00000426842.2_5'UTR|RNU7-125P_ENST00000458760.1_RNA	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	31					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTGTTAGTGAATTTTCTTGCC	0.493																																																0			16											146	142	143					16																	14738296		2197	4300	6497	14645797	SO:0001819	synonymous_variant	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.93A>G	16.37:g.14738296A>G			14645797	A8K4Z9|B4DUT0|D3DUG8	Silent	SNP	ENST00000261658.2	37	CCDS10554.1																																																																																				0.493	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		G	14738296	A	G	14738296	2	3	338	1	0	0	0	0	0	0	0	1	1414	98	4	4		4	BFAR	16	14738296	Silent	SNP	A	TCGA-29-1761-01A-01W-0633-09		14738296	75616457	122	18200											
ZP2	7783	genome.wustl.edu	37	16	21213476	21213476	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr16:21213476C>A	ENST00000574002.1	-	12	1718	c.1236G>T	c.(1234-1236)caG>caT	p.Q412H	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.Q412H|ZP2_ENST00000574091.1_Missense_Mutation_p.Q412H			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	412	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.Q412H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTACCAGCCCCTGAGACTGAG	0.507																																																1	Substitution - Missense(1)	lung(1)	16											86	77	80					16																	21213476		2200	4300	6500	21120977	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1236G>T	16.37:g.21213476C>A	ENSP00000460971:p.Gln412His		21120977	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.439047	0.43326	.	.	ENSG00000103310	ENST00000219593	D	0.82081	-1.57	5.83	1.04	0.20106	Zona pellucida sperm-binding protein (3);	0.727375	0.13155	N	0.409533	D	0.83229	0.5209	L	0.52905	1.665	0.09310	N	1	P;P	0.52316	0.952;0.952	P;P	0.60682	0.878;0.878	T	0.69921	-0.5014	10	0.15499	T	0.54	0.0627	5.2858	0.15700	0.1372:0.4938:0.0:0.369	.	412;412	Q4VAP1;Q05996	.;ZP2_HUMAN	H	412	ENSP00000219593:Q412H	ENSP00000219593:Q412H	Q	-	3	2	ZP2	21120977	0.003000	0.15002	0.000000	0.03702	0.778000	0.44026	-0.027000	0.12371	0.034000	0.15491	0.467000	0.42956	CAG		0.507	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			A	21213476	C	A	21213476	3	1	338	1	0	0	0	0	1	0	0	0	18216	680	24	3	1037	3	ZP2	16	21213476	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	6475180	21213476	69141277	123	18201											
TMCO7	79613	genome.wustl.edu	37	16	68894361	68894361	+	Silent	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr16:68894361C>T	ENST00000261778.1	+	2	681	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	223						integral component of membrane (GO:0016021)											TTGGGGATATCGCAGCAGGTC	0.488																																																0			16											104	102	103					16																	68894361		1977	4157	6134	67451862	SO:0001819	synonymous_variant	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.669C>T	16.37:g.68894361C>T			67451862	Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	CCDS45516.1																																																																																				0.488	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		T	68894361	C	T	68894361	2	4	338	1	0	0	0	0	0	0	0	1	16001	874	31	1		1	TMCO7	16	68894361	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	47680885	68894361	21460392	124	18202											
HYDIN	54768	genome.wustl.edu	37	16	71065635	71065635	+	Silent	SNP	A	A	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr16:71065635A>G	ENST00000393567.2	-	19	2865	c.2715T>C	c.(2713-2715)acT>acC	p.T905T	HYDIN_ENST00000541601.1_Silent_p.T922T|HYDIN_ENST00000448691.1_Silent_p.T905T|HYDIN_ENST00000321489.5_Silent_p.T905T|HYDIN_ENST00000448089.2_Silent_p.T905T|HYDIN_ENST00000538248.1_Silent_p.T932T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	905					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGAAACAATAGTGGAACCAG	0.403																																																0			16											11	13	12					16																	71065635		2091	4233	6324	69623136	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2715T>C	16.37:g.71065635A>G			69623136	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.403	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	71065635	A	G	71065635	2	3	338	1	0	0	0	0	0	0	0	1	7467	407	15	4		4	HYDIN	16	71065635	Silent	SNP	A	TCGA-29-1761-01A-01W-0633-09	2171274	71065635	19289118	125	18203											
FANCA	2175	genome.wustl.edu	37	16	89877209	89877209	+	Splice_Site	SNP	T	T	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr16:89877209T>C	ENST00000389301.3	-	5	458	c.428A>G	c.(427-429)aAg>aGg	p.K143R	FANCA_ENST00000389302.3_Splice_Site_p.K143R|FANCA_ENST00000563673.1_Splice_Site_p.K143R|FANCA_ENST00000543736.1_Intron|FANCA_ENST00000534992.1_Splice_Site_p.K143R|FANCA_ENST00000568369.1_Splice_Site_p.K143R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	143					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGACAGCTTCTTCTGAAAAGA	0.353			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0			16											98	102	101					16																	89877209		2198	4300	6498	88404710	SO:0001630	splice_region_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.427-1A>G	16.37:g.89877209T>C			88404710	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802827	0.31869	.	.	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992	T;T;T	0.45668	0.89;0.89;0.89	4.96	2.72	0.32119	.	0.390178	0.21489	N	0.073720	T	0.33498	0.0865	M	0.67953	2.075	0.25161	N	0.990358	B;P;P;P;B	0.36144	0.289;0.539;0.539;0.539;0.289	B;B;B;B;B	0.30782	0.045;0.12;0.12;0.12;0.045	T	0.15009	-1.0452	10	0.24483	T	0.36	-14.5278	6.982	0.24708	0.0:0.1841:0.0:0.8159	.	143;143;143;143;143	B4DRI7;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;FANCA_HUMAN	R	143	ENSP00000373952:K143R;ENSP00000373953:K143R;ENSP00000443675:K143R	ENSP00000373952:K143R	K	-	2	0	FANCA	88404710	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	2.522000	0.45572	0.357000	0.24183	0.529000	0.55759	AAG		0.353	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		Missense_Mutation	C	89877209	T	C	89877209	5	2	338	1	0	0	0	0	0	0	1	0	5662	1623	56	4	4100	4	FANCA	16	89877209	Splice_Site	SNP	T	TCGA-29-1761-01A-01W-0633-09	18811574	89877209	477544	126	18204											
POLR2A	5430	genome.wustl.edu	37	17	7416196	7416196	+	Silent	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:7416196C>G	ENST00000322644.6	+	28	5109	c.4710C>G	c.(4708-4710)ggC>ggG	p.G1570G		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1570					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCACACCGGGCTCCCCGGGGT	0.637																																																0			17											60	72	68					17																	7416196		2203	4300	6503	7356920	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4710C>G	17.37:g.7416196C>G			7356920	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																				0.637	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		G	7416196	C	G	7416196	2	3	338	1	0	0	0	0	0	0	0	1	12214	784	28	3		3	POLR2A	17	7416196	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09		7416196	73779014	127	18205											
TP53	7157	genome.wustl.edu	37	17	7579321	7579322	+	Frame_Shift_Del	DEL	CA	CA	-	rs587780067		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	CA	CA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:7579321_7579322delCA	ENST00000269305.4	-	4	554_555	c.365_366delTG	c.(364-366)gtgfs	p.V122fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs	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	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCGTGCAAGTCACAGACTTGGC	0.554		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"	23	Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(2)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)|liver(1)|ovary(1)	17	GRCh37	CM065494	TP53	M																																				7520047	SO:0001589	frameshift_variant	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.365_366delTG	17.37:g.7579323_7579324delCA	ENSP00000269305:p.Val122fs		7520046	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579322	CA	-	7579321	7	5	338	1	0	1	0	1	0	0	0	0	16381	813	29	0	936	0	TP53	17	7579321	Frame_Shift_Del	DEL	CA	TCGA-29-1761-01A-01W-0633-09	163125	7579321	73615889	128	18206											
MYH1	4619	genome.wustl.edu	37	17	10415997	10415997	+	Splice_Site	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:10415997C>T	ENST00000226207.5	-	11	1103		c.e11+1		RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTATAACTTACATCTGTAGCC	0.393																																																0			17											161	156	158					17																	10415997		2203	4300	6503	10356722	SO:0001630	splice_region_variant	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1008+1G>A	17.37:g.10415997C>T			10356722	Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204498	0.58234	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10356722	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	7.787000	0.85759	2.941000	0.99782	0.655000	0.94253	.		0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron	T	10415997	C	T	10415997	5	4	338	1	0	0	0	0	0	0	1	0	10029	492	17	2	4930	2	MYH1	17	10415997	Splice_Site	SNP	C	TCGA-29-1761-01A-01W-0633-09	2836676	10415997	70779213	129	18207											
CCR10	2826	genome.wustl.edu	37	17	40832615	40832615	+	Silent	SNP	A	A	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:40832615A>G	ENST00000332438.4	-	2	64	c.45T>C	c.(43-45)tcT>tcC	p.S15S	CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.3_ENST00000592440.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	15					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTTCATCCCCAGAGTAATGGC	0.592																																																0			17											40	37	38					17																	40832615		2163	4228	6391	38086141	SO:0001819	synonymous_variant	2826			AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"GPCR / Class A : Chemokine receptors : C-C motif"	4474	protein-coding gene	gene with protein product		600240	"G protein-coupled receptor 2"	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.45T>C	17.37:g.40832615A>G			38086141	Q4V749|Q6T7X2|Q9NZG2	Silent	SNP	ENST00000332438.4	37	CCDS11435.1																																																																																				0.592	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		G	40832615	A	G	40832615	2	3	338	1	0	0	0	0	0	0	0	1	2940	175	7	4		4	CCR10	17	40832615	Silent	SNP	A	TCGA-29-1761-01A-01W-0633-09	30416618	40832615	40362595	130	18208											
KIAA1267	284058	genome.wustl.edu	37	17	44172038	44172038	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:44172038G>C	ENST00000262419.6	-	3	1789	c.1319C>G	c.(1318-1320)gCa>gGa	p.A440G	KANSL1_ENST00000572904.1_Missense_Mutation_p.A440G|KANSL1_ENST00000432791.1_Missense_Mutation_p.A440G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Missense_Mutation_p.A440G|KANSL1_ENST00000574590.1_Missense_Mutation_p.A440G	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	440					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGCCCGGTCTGCAGCCCATTT	0.458																																																0			17											94	115	108					17																	44172038		2203	4300	6503	41527855	SO:0001583	missense	284058			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1319C>G	17.37:g.44172038G>C	ENSP00000262419:p.Ala440Gly		41527855	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312372	0.81358	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12465	2.68;2.68	4.95	4.95	0.65309	.	0.248699	0.41001	D	0.000971	T	0.26122	0.0637	L	0.44542	1.39	0.80722	D	1	D;P	0.56968	0.978;0.952	D;P	0.69142	0.962;0.859	T	0.00529	-1.1687	10	0.30854	T	0.27	-6.0154	12.2817	0.54767	0.0:0.0:0.8303:0.1697	.	440;440	C9JHY2;Q7Z3B3	.;K1267_HUMAN	G	440	ENSP00000262419:A440G;ENSP00000387393:A440G	ENSP00000262419:A440G	A	-	2	0	KIAA1267	41527855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.517000	0.67061	2.449000	0.82847	0.655000	0.94253	GCA		0.458	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		C	44172038	G	C	44172038	3	2	338	1	0	0	0	0	1	0	0	0	8219	1319	46	3	2050	3	KIAA1267	17	44172038	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	3339423	44172038	37023172	131	18209											
XYLT2	64132	genome.wustl.edu	37	17	48434131	48434131	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:48434131G>C	ENST00000017003.2	+	8	1791	c.1742G>C	c.(1741-1743)tGc>tCc	p.C581S	XYLT2_ENST00000507602.1_Missense_Mutation_p.C581S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	581					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACCCCACTCTGCAGGTGAGAC	0.642																																																0			17											67	79	75					17																	48434131		2191	4286	6477	45789130	SO:0001583	missense	64132			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1742G>C	17.37:g.48434131G>C	ENSP00000017003:p.Cys581Ser		45789130	Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802481	0.70682	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.49139	0.79;0.79	4.84	4.84	0.62591	.	0.097290	0.64402	D	0.000001	T	0.66489	0.2794	M	0.74881	2.28	0.80722	D	1	D	0.60575	0.988	P	0.62014	0.897	T	0.70945	-0.4734	10	0.72032	D	0.01	-27.7197	16.3165	0.82930	0.0:0.0:1.0:0.0	.	581	Q9H1B5	XYLT2_HUMAN	S	581	ENSP00000017003:C581S;ENSP00000426501:C581S	ENSP00000017003:C581S	C	+	2	0	XYLT2	45789130	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	8.263000	0.89864	2.516000	0.84829	0.655000	0.94253	TGC		0.642	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		C	48434131	G	C	48434131	3	2	338	1	0	0	0	0	1	0	0	0	17464	1319	46	3	1772	3	XYLT2	17	48434131	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	4262093	48434131	32761079	132	18210											
CACNA1G	8913	genome.wustl.edu	37	17	48703921	48703921	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:48703921C>G	ENST00000359106.5	+	38	6943	c.6943C>G	c.(6943-6945)Ccc>Gcc	p.P2315A	CACNA1G_ENST00000502264.1_Missense_Mutation_p.P2244A|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2252A|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P2170A|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P2211A|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2270A|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2281A|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P2197A|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P2229A|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P2181A|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P2215A|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P2143A|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P2225A|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2304A|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P2236A|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P2222A|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P2165A|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2259A|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P2204A|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P2199A|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P2132A|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P2177A|CACNA1G_ENST00000352832.5_Missense_Mutation_p.P2188A|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P2188A|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P2109A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2315					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACCATAGACCCCCCCGAGAG	0.672											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			17											18	24	22					17																	48703921		1824	4062	5886	46058920	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6943C>G	17.37:g.48703921C>G	ENSP00000352011:p.Pro2315Ala	956	46058920	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209665	0.79240	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.5	5.5	0.81552	.	0.889113	0.09830	N	0.750393	D	0.82604	0.5073	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;P;D;D;B;D	0.89917	0.998;1.0;0.999;0.998;1.0;0.997;0.997;1.0;0.997;0.999;0.999;1.0;1.0;0.786;0.997;1.0;0.999;0.996;1.0;1.0;0.862;1.0;1.0;0.125;0.98	D;D;D;D;D;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;B;D;D;B;D	0.91635	0.991;0.999;0.998;0.993;0.998;0.993;0.993;0.998;0.993;0.991;0.991;0.999;0.999;0.374;0.993;0.998;0.998;0.959;0.998;0.999;0.398;0.998;0.997;0.075;0.966	T	0.79720	-0.1685	10	0.87932	D	0	.	19.3874	0.94563	0.0:1.0:0.0:0.0	.	2165;2177;2170;2252;2225;2197;2229;2188;2215;2132;2143;2244;2211;2304;2204;2259;2222;2292;2270;2188;2181;2236;2199;2315;2109	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	A	2199;2188;2281;2181;2244;2211;2177;2165;2170;2188;2270;2304;2225;2215;2236;2222;2197;2259;2229;2109;2315;2204;2252;2143;2132	ENSP00000353990:P2199A;ENSP00000339302:P2188A;ENSP00000347078:P2281A;ENSP00000409759:P2181A;ENSP00000425522:P2244A;ENSP00000426261:P2211A;ENSP00000425451:P2177A;ENSP00000422407:P2165A;ENSP00000426814:P2170A;ENSP00000427238:P2188A;ENSP00000423112:P2270A;ENSP00000420918:P2304A;ENSP00000426172:P2225A;ENSP00000423045:P2215A;ENSP00000427173:P2236A;ENSP00000426098:P2222A;ENSP00000425698:P2197A;ENSP00000426232:P2259A;ENSP00000423317:P2229A;ENSP00000350979:P2109A;ENSP00000352011:P2315A;ENSP00000414388:P2204A;ENSP00000423155:P2252A;ENSP00000422268:P2143A;ENSP00000421518:P2132A	ENSP00000339302:P2188A	P	+	1	0	CACNA1G	46058920	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.509000	0.67012	2.590000	0.87494	0.561000	0.74099	CCC		0.672	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		G	48703921	C	G	48703921	3	3	338	1	0	0	0	0	1	0	0	0	2544	623	22	3	7360	3	CACNA1G	17	48703921	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	269790	48703921	32491289	133	18211											
MKS1	54903	genome.wustl.edu	37	17	56290438	56290438	+	Missense_Mutation	SNP	C	C	T	rs201237547		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:56290438C>T	ENST00000393119.2	-	8	837	c.763G>A	c.(763-765)Ggg>Agg	p.G255R	MKS1_ENST00000537529.2_Missense_Mutation_p.G245R|MKS1_ENST00000337050.7_Missense_Mutation_p.G255R|MKS1_ENST00000313863.6_Missense_Mutation_p.G255R|MKS1_ENST00000546108.1_Missense_Mutation_p.G52R	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	255					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGCTTCTCCCCCTCCGTCTCA	0.547																																																0			17											76	78	78					17																	56290438		1949	4142	6091	53645437	SO:0001583	missense	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.763G>A	17.37:g.56290438C>T	ENSP00000376827:p.Gly255Arg		53645437	B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351277	0.61183	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	T;T;T;T	0.75589	-0.53;-0.5;-0.26;-0.95	5.9	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.82692	0.5092	M	0.73598	2.24	0.58432	D	0.999999	D;P	0.58620	0.983;0.561	P;B	0.56823	0.807;0.326	D	0.83659	0.0160	9	.	.	.	-17.8958	15.3052	0.73987	0.1411:0.8589:0.0:0.0	.	255;255	A8MPP8;Q9NXB0	.;MKS1_HUMAN	R	245;255;255;255;52	ENSP00000442096:G245R;ENSP00000376827:G255R;ENSP00000338407:G255R;ENSP00000443012:G52R	.	G	-	1	0	MKS1	53645437	1.000000	0.71417	0.991000	0.47740	0.140000	0.21249	3.903000	0.56318	1.490000	0.48466	-0.165000	0.13383	GGG		0.547	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		T	56290438	C	T	56290438	3	4	338	1	0	0	0	0	1	0	0	0	9609	623	22	2	960	2	MKS1	17	56290438	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	7586517	56290438	24904772	134	18212											
LLGL2	3993	genome.wustl.edu	37	17	73552202	73552208	+	Frame_Shift_Del	DEL	ACCCGTT	ACCCGTT	-	rs150649144		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	ACCCGTT	ACCCGTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:73552202_73552208delACCCGTT	ENST00000392550.3	+	3	268_274	c.151_157delACCCGTT	c.(151-159)acccgttctfs	p.TRS51fs	LLGL2_ENST00000578363.1_Frame_Shift_Del_p.TRS51fs|LLGL2_ENST00000375227.4_Frame_Shift_Del_p.TRS51fs|LLGL2_ENST00000167462.5_Frame_Shift_Del_p.TRS51fs|LLGL2_ENST00000577200.1_Frame_Shift_Del_p.TRS51fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	51					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCCATCGGCACCCGTTCTGGAGCCAT	0.657																																																0			17																																								71063803	SO:0001589	frameshift_variant	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.151_157delACCCGTT	17.37:g.73552202_73552208delACCCGTT	ENSP00000376333:p.Thr51fs		71063797	Q14521|Q9BR62	Frame_Shift_Del	DEL	ENST00000392550.3	37	CCDS32733.1																																																																																				0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		-	73552208	ACCCGTT	-	73552202	7	5	338	1	0	1	0	1	0	0	0	0	8834	159	6	0	157	0	LLGL2	17	73552202	Frame_Shift_Del	DEL	ACCCGTT	TCGA-29-1761-01A-01W-0633-09	17261764	73552202	7643008	135	18213											
DNAH17	9489	genome.wustl.edu	37	17	76420173	76420173	+	3'UTR	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr17:76420173C>T	ENST00000262764.6	+	0	1739				AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000389840.5_Silent_p.P4424P|DNAH17_ENST00000586052.1_5'UTR|PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_3'UTR|DNAH17_ENST00000585328.1_Silent_p.P4396P	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CAGGCATGGCCGGGGTCAGCT	0.597																																					Esophageal Squamous(45;182 1126 10685 43198)											0			17											77	76	77					17																	76420173		2203	4300	6503	73931768	SO:0001624	3_prime_UTR_variant	9489				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.*42C>T	17.37:g.76420173C>T			73931768	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1																																																																																				0.597	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		T	76420173	C	T	76420173	1	4	338	0	1	0	0	0	0	0	0	0	4601	639	23	1		1	DNAH17	17	76420173	3'UTR	SNP	C	TCGA-29-1761-01A-01W-0633-09	2867971	76420173	4775037	136	18214											
GNAL	2774	genome.wustl.edu	37	18	11753861	11753861	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr18:11753861G>T	ENST00000423027.3	+	4	631	c.310G>T	c.(310-312)Gtt>Ttt	p.V104F	GNAL_ENST00000269162.5_Missense_Mutation_p.V104F|GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.V104F|GNAL_ENST00000334049.6_Missense_Mutation_p.V181F			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	104			Missing (in DYT25). {ECO:0000269|PubMed:23222958}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AATACCTCCAGTTCCGCTGGC	0.363																																																0			18											96	95	96					18																	11753861		2203	4300	6503	11743861	SO:0001583	missense	2774			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.310G>T	18.37:g.11753861G>T	ENSP00000408489:p.Val104Phe		11743861	B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064267	0.76187	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.69	4.82	0.62117	G protein alpha subunit, helical insertion (2);	0.052237	0.85682	D	0.000000	T	0.60261	0.2255	M	0.72118	2.19	0.80722	D	1	D;D	0.64830	0.975;0.994	P;D	0.69307	0.847;0.963	T	0.58222	-0.7674	10	0.20046	T	0.44	.	14.7598	0.69596	0.0693:0.0:0.9307:0.0	.	104;181	P38405;Q86XU3	GNAL_HUMAN;.	F	43;181;104;104;104	ENSP00000334051:V181F;ENSP00000439023:V104F;ENSP00000269162:V104F;ENSP00000408489:V104F	ENSP00000269162:V104F	V	+	1	0	GNAL	11743861	1.000000	0.71417	0.976000	0.42696	0.801000	0.45260	4.478000	0.60230	1.419000	0.47118	0.561000	0.74099	GTT		0.363	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		T	11753861	G	T	11753861	3	4	338	1	0	0	0	0	1	0	0	0	6507	1029	36	3	704	3	GNAL	18	11753861	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09		11753861	66323387	137	18215											
DSC1	1823	genome.wustl.edu	37	18	28714539	28714539	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr18:28714539C>A	ENST00000257198.5	-	12	2133	c.1872G>T	c.(1870-1872)aaG>aaT	p.K624N	DSC1_ENST00000257197.3_Missense_Mutation_p.K624N|RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	624	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACATACCATCCTTTTCTTCTA	0.333																																																0			18											85	82	83					18																	28714539		2201	4300	6501	26968537	SO:0001583	missense	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1872G>T	18.37:g.28714539C>A	ENSP00000257198:p.Lys624Asn		26968537	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	9.324	1.058849	0.19987	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.59772	0.24;0.24	5.42	-2.46	0.06461	Cadherin (2);Cadherin-like (1);	0.469836	0.19436	N	0.114309	T	0.35278	0.0926	N	0.21097	0.63	0.09310	N	0.999999	P;P	0.50066	0.682;0.931	B;B	0.44224	0.205;0.444	T	0.40739	-0.9547	10	0.23891	T	0.37	.	5.0214	0.14363	0.2299:0.2996:0.0:0.4704	.	624;624	Q08554;Q9HB00	DSC1_HUMAN;.	N	624	ENSP00000257197:K624N;ENSP00000257198:K624N	ENSP00000257197:K624N	K	-	3	2	DSC1	26968537	0.026000	0.19158	0.127000	0.21898	0.615000	0.37417	-1.515000	0.02252	-0.451000	0.07097	0.591000	0.81541	AAG		0.333	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		A	28714539	C	A	28714539	3	1	338	1	0	0	0	0	1	0	0	0	4765	680	24	3	872	3	DSC1	18	28714539	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	16960678	28714539	49362709	138	18216											
ASXL3	80816	genome.wustl.edu	37	18	31323118	31323118	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr18:31323118C>G	ENST00000269197.5	+	12	3306	c.3306C>G	c.(3304-3306)atC>atG	p.I1102M		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGCACACATCAAAGAGCAGA	0.557																																																0			18											49	50	50					18																	31323118		1956	4144	6100	29577116	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3306C>G	18.37:g.31323118C>G	ENSP00000269197:p.Ile1102Met		29577116	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109883	0.56398	.	.	ENSG00000141431	ENST00000269197	T	0.52754	0.65	5.9	5.9	0.94986	.	0.839144	0.10428	N	0.675884	T	0.63271	0.2497	L	0.44542	1.39	0.39361	D	0.965918	D	0.76494	0.999	D	0.85130	0.997	T	0.57596	-0.7784	10	0.62326	D	0.03	.	13.4796	0.61328	0.0:0.9289:0.0:0.0711	.	1102	Q9C0F0	ASXL3_HUMAN	M	1102	ENSP00000269197:I1102M	ENSP00000269197:I1102M	I	+	3	3	ASXL3	29577116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.392000	0.59659	2.786000	0.95864	0.650000	0.86243	ATC		0.557	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			G	31323118	C	G	31323118	3	3	338	1	0	0	0	0	1	0	0	0	1068	816	29	3	3352	3	ASXL3	18	31323118	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	2608579	31323118	46754130	139	18217											
SLC14A2	8170	genome.wustl.edu	37	18	43249422	43249422	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr18:43249422G>A	ENST00000255226.6	+	16	3004	c.2188G>A	c.(2188-2190)Gcc>Acc	p.A730T	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.A207T|SLC14A2_ENST00000586448.1_Missense_Mutation_p.A730T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	730					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCTGCATCCGCCATGCCCAA	0.542																																																0			18											170	145	153					18																	43249422		2203	4300	6503	41503420	SO:0001583	missense	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2188G>A	18.37:g.43249422G>A	ENSP00000255226:p.Ala730Thr		41503420	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	1.890	-0.455797	0.04540	.	.	ENSG00000132874	ENST00000255226	T	0.49720	0.77	5.76	-1.42	0.08913	.	0.385759	0.22284	N	0.062100	T	0.18923	0.0454	N	0.08118	0	0.37073	D	0.898633	B	0.12630	0.006	B	0.13407	0.009	T	0.39542	-0.9609	10	0.02654	T	1	-17.884	9.073	0.36504	0.1931:0.0:0.4714:0.3355	.	730	Q15849	UT2_HUMAN	T	730	ENSP00000255226:A730T	ENSP00000255226:A730T	A	+	1	0	SLC14A2	41503420	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	-0.035000	0.12205	-0.176000	0.10707	-1.268000	0.01426	GCC		0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			A	43249422	G	A	43249422	3	1	338	1	0	0	0	0	1	0	0	0	14400	1087	38	1	2246	1	SLC14A2	18	43249422	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	11926304	43249422	34827826	140	18218											
ALPK2	115701	genome.wustl.edu	37	18	56246759	56246759	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr18:56246759C>A	ENST00000361673.3	-	4	1462	c.1249G>T	c.(1249-1251)Gtc>Ttc	p.V417F	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	417						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGCTTGGAGACTCTGCTGCTC	0.557											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			18											72	74	74					18																	56246759		2203	4300	6503	54397739	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1249G>T	18.37:g.56246759C>A	ENSP00000354991:p.Val417Phe	1014	54397739	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	7.861	0.726104	0.15439	.	.	ENSG00000198796	ENST00000361673	T	0.45668	0.89	5.39	3.47	0.39725	.	0.249962	0.20938	N	0.082962	T	0.20373	0.0490	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.29267	0.1	T	0.12142	-1.0559	10	0.59425	D	0.04	-0.9536	7.775	0.29033	0.0:0.5467:0.3563:0.097	.	417	Q86TB3	ALPK2_HUMAN	F	417	ENSP00000354991:V417F	ENSP00000354991:V417F	V	-	1	0	ALPK2	54397739	0.569000	0.26643	0.055000	0.19348	0.011000	0.07611	0.716000	0.25836	1.261000	0.44149	0.561000	0.74099	GTC		0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		A	56246759	C	A	56246759	3	1	338	1	0	0	0	0	1	0	0	0	545	565	20	3	5303	3	ALPK2	18	56246759	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	12997337	56246759	21830489	141	18219											
ATP9B	374868	genome.wustl.edu	37	18	77063608	77063608	+	Silent	SNP	C	C	G	rs373609399		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr18:77063608C>G	ENST00000426216.2	+	14	1433	c.1416C>G	c.(1414-1416)acC>acG	p.T472T	ATP9B_ENST00000307671.7_Silent_p.T472T	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	472					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T472T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCCTAGGAACCCTCACCCAGA	0.542													C|||	1	0.000199681	8e-04	0	5008	,	,		17613	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	18						C		1,4405	2.1+/-5.4	0,1,2202	77	70	72		1416	-3.4	1	18		72	0,8600		0,0,4300	no	coding-synonymous	ATP9B	NM_198531.3		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		472/1148	77063608	1,13005	2203	4300	6503	75164596	SO:0001819	synonymous_variant	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1416C>G	18.37:g.77063608C>G			75164596	O60872|Q08AD8|Q08AD9	Silent	SNP	ENST00000426216.2	37	CCDS12014.1																																																																																				0.542	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		G	77063608	C	G	77063608	2	3	338	1	0	0	0	0	0	0	0	1	1199	610	22	3		3	ATP9B	18	77063608	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	20816849	77063608	1013640	142	18220											
SAFB2	9667	genome.wustl.edu	37	19	5611182	5611182	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:5611182G>C	ENST00000252542.4	-	7	1358	c.1094C>G	c.(1093-1095)cCt>cGt	p.P365R	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AGGAGCCGGAGGGACTTCATT	0.493																																					Ovarian(127;888 1728 23957 44128 52668)											0			19											1	2	2					19																	5611182		1000	2134	3134	5562182	SO:0001583	missense	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1094C>G	19.37:g.5611182G>C	ENSP00000252542:p.Pro365Arg		5562182	B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431575	0.62844	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542	T	0.08807	3.05	5.31	5.31	0.75309	.	0.118717	0.38436	N	0.001688	T	0.12561	0.0305	M	0.62723	1.935	0.48185	D	0.9996	P	0.45902	0.868	B	0.39068	0.289	T	0.06023	-1.0850	10	0.33940	T	0.23	-11.5625	18.9863	0.92771	0.0:0.0:1.0:0.0	.	365	Q14151	SAFB2_HUMAN	R	261;116;365;365	ENSP00000252542:P365R	ENSP00000252542:P365R	P	-	2	0	SAFB2	5562182	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.258000	0.89853	2.500000	0.84329	0.561000	0.74099	CCT		0.493	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		C	5611182	G	C	5611182	3	2	338	1	0	0	0	0	1	0	0	0	13810	1000	35	3	1827	3	SAFB2	19	5611182	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09		5611182	53517801	143	18221											
CAPS	8498	genome.wustl.edu	37	19	5914436	5914436	+	IGR	SNP	A	A	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:5914436A>G	ENST00000340578.6	-	0	3233				AC104532.2_ENST00000588891.1_3'UTR|CAPS_ENST00000222125.5_Missense_Mutation_p.T7A|CAPS_ENST00000588776.1_Missense_Mutation_p.T93A|CAPS_ENST00000452990.2_Missense_Mutation_p.T7A|AC104532.4_ENST00000591109.1_RNA	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CGTGGATGCCACCATGGAGAA	0.692																																																0			19											56	58	57					19																	5914436		2203	4300	6503	5865436	SO:0001628	intergenic_variant	828			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914436A>G			5865436	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	A	5.245	0.230743	0.09969	.	.	ENSG00000105519	ENST00000394521;ENST00000222125;ENST00000452990	T;T	0.50813	0.73;0.99	4.83	2.7	0.31948	.	0.470871	0.20293	N	0.095196	T	0.24314	0.0589	N	0.16743	0.435	0.23946	N	0.99639	B;B	0.12013	0.005;0.0	B;B	0.11329	0.006;0.0	T	0.21008	-1.0258	10	0.10902	T	0.67	-11.0005	4.9104	0.13820	0.715:0.1868:0.0981:0.0	.	140;7	Q8NF12;Q13938	.;CAYP1_HUMAN	A	140;7;7	ENSP00000222125:T7A;ENSP00000403263:T7A	ENSP00000222125:T7A	T	+	1	0	CAPS	5865436	0.965000	0.33210	0.197000	0.23402	0.043000	0.13939	1.784000	0.38674	0.315000	0.23110	0.459000	0.35465	ACC		0.692	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		G	5914436	A	G	5914436	1	3	338	0	1	0	0	0	0	0	0	0	2637	159	6	4		4	CAPS	19	5914436	IGR	SNP	A	TCGA-29-1761-01A-01W-0633-09	303254	5914436	53214547	144	18222											
COL5A3	50509	genome.wustl.edu	37	19	10099829	10099829	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:10099829G>T	ENST00000264828.3	-	27	2201	c.2116C>A	c.(2116-2118)Ccg>Acg	p.P706T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	706	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGATAGCCCGGAGGGCCTGCC	0.552																																																0			19											70	75	73					19																	10099829		2203	4300	6503	9960829	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2116C>A	19.37:g.10099829G>T	ENSP00000264828:p.Pro706Thr		9960829	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.162808	0.01673	.	.	ENSG00000080573	ENST00000264828	D	0.97041	-4.22	3.73	-0.0253	0.13935	.	0.863558	0.10039	N	0.723725	D	0.93096	0.7802	L	0.55743	1.74	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.81607	-0.0856	10	0.13853	T	0.58	.	3.6924	0.08351	0.097:0.1336:0.5419:0.2275	.	706	P25940	CO5A3_HUMAN	T	706	ENSP00000264828:P706T	ENSP00000264828:P706T	P	-	1	0	COL5A3	9960829	0.000000	0.05858	0.213000	0.23690	0.163000	0.22366	0.597000	0.24059	0.047000	0.15862	-1.268000	0.01426	CCG		0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10099829	G	T	10099829	3	4	338	1	0	0	0	0	1	0	0	0	3698	1174	41	3	3285	3	COL5A3	19	10099829	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	4185393	10099829	49029154	145	18223											
TYK2	7297	genome.wustl.edu	37	19	10464312	10464312	+	Silent	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:10464312C>T	ENST00000525621.1	-	21	3400	c.2919G>A	c.(2917-2919)tcG>tcA	p.S973S	TYK2_ENST00000524462.1_Silent_p.S788S|TYK2_ENST00000264818.6_Silent_p.S973S|TYK2_ENST00000529422.1_5'Flank	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	973	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCTGCAGCGACTTCTCGC	0.711																																																0			19											12	15	14					19																	10464312		2190	4282	6472	10325312	SO:0001819	synonymous_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2919G>A	19.37:g.10464312C>T			10325312	Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	CCDS12236.1																																																																																				0.711	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			T	10464312	C	T	10464312	2	4	338	1	0	0	0	0	0	0	0	1	16810	755	27	1		1	TYK2	19	10464312	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	364483	10464312	48664671	146	18224											
MAP4K1	11184	genome.wustl.edu	37	19	39086298	39086298	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:39086298C>T	ENST00000591517.1	-	28	2279	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	MAP4K1_ENST00000589130.1_Missense_Mutation_p.E747K|MAP4K1_ENST00000396857.2_Missense_Mutation_p.E751K|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	751	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCACCGCTTCGGTCATGGGG	0.607																																																0			19											48	51	50					19																	39086298		1938	4134	6072	43778138	SO:0001583	missense	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.2251G>A	19.37:g.39086298C>T	ENSP00000465039:p.Glu751Lys		43778138		Missense_Mutation	SNP	ENST00000591517.1	37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188267	0.57909	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.04862	3.54	4.89	4.89	0.63831	Citron-like (3);	0.156319	0.43747	D	0.000522	T	0.17492	0.0420	L	0.44542	1.39	0.35577	D	0.805923	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.02736	-1.1117	10	0.87932	D	0	.	13.4953	0.61421	0.0:1.0:0.0:0.0	.	751;751	Q92918-2;Q92918	.;M4K1_HUMAN	K	751	ENSP00000380066:E751K	ENSP00000221409:E751K	E	-	1	0	MAP4K1	43778138	0.292000	0.24362	0.183000	0.23137	0.570000	0.35934	2.032000	0.41127	2.550000	0.86006	0.644000	0.83932	GAA		0.607	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		T	39086298	C	T	39086298	3	4	338	1	0	0	0	0	1	0	0	0	9259	893	31	1	332	1	MAP4K1	19	39086298	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	28621986	39086298	20042685	147	18225											
RAB4B	53916	genome.wustl.edu	37	19	41289958	41289958	+	Silent	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:41289958C>T	ENST00000594800.1	+	5	568	c.408C>T	c.(406-408)gcC>gcT	p.A136A	RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Silent_p.A136A|RAB4B-EGLN2_ENST00000594136.1_Silent_p.A136A|RAB4B-EGLN2_ENST00000601949.1_Intron|MIA-RAB4B_ENST00000600729.1_3'UTR			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	136					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCTGGAGGCCTCCCGCTTTG	0.627																																																0			19											42	37	39					19																	41289958		2203	4300	6503	45981798	SO:0001819	synonymous_variant	53916			AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.408C>T	19.37:g.41289958C>T			45981798	P22750|Q7Z514|Q9HBR6	Silent	SNP	ENST00000594800.1	37	CCDS33030.1																																																																																				0.627	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		T	41289958	C	T	41289958	2	4	338	1	0	0	0	0	0	0	0	1	12950	668	24	2		2	RAB4B	19	41289958	Silent	SNP	C	TCGA-29-1761-01A-01W-0633-09	2203660	41289958	17839025	148	18226											
ZNF574	64763	genome.wustl.edu	37	19	42584235	42584235	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:42584235C>G	ENST00000600245.1	+	2	2132	c.1477C>G	c.(1477-1479)Cgg>Ggg	p.R493G	ZNF574_ENST00000222339.7_Missense_Mutation_p.R583G|ZNF574_ENST00000359044.4_Missense_Mutation_p.R493G|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TCGGCTGGAGCGGCGCCATAA	0.612																																																0			19											88	100	96					19																	42584235		2203	4299	6502	47276075	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1477C>G	19.37:g.42584235C>G	ENSP00000469029:p.Arg493Gly		47276075	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	c	13.66	2.303248	0.40795	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.35789	1.29;1.29	4.48	3.45	0.39498	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.49745	0.1575	M	0.72118	2.19	0.32656	N	0.518734	P;D	0.62365	0.938;0.991	P;P	0.60345	0.686;0.873	T	0.62286	-0.6886	10	0.87932	D	0	-18.0937	6.7659	0.23566	0.1748:0.7325:0.0:0.0927	.	493;582	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	G	583;493;100	ENSP00000222339:R583G;ENSP00000351939:R493G	ENSP00000222339:R583G	R	+	1	2	ZNF574	47276075	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.294000	0.33365	1.118000	0.41863	0.645000	0.84053	CGG		0.612	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		G	42584235	C	G	42584235	3	3	338	1	0	0	0	0	1	0	0	0	18006	759	27	3	1479	3	ZNF574	19	42584235	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	1294277	42584235	16544748	149	18227											
ZNF473	25888	genome.wustl.edu	37	19	50548196	50548196	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:50548196G>A	ENST00000595661.1	+	6	991	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.E166K|ZNF473_ENST00000270617.3_Missense_Mutation_p.E166K|ZNF473_ENST00000445728.3_Missense_Mutation_p.E154K			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	166					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TTCCACGGGAGAAGATTCCAT	0.483																																																0			19											60	59	59					19																	50548196		2203	4300	6503	55240008	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.496G>A	19.37:g.50548196G>A	ENSP00000472808:p.Glu166Lys		55240008	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736766	0.49045	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.13538	2.7;2.7;2.58	4.36	4.36	0.52297	.	0.356990	0.20300	N	0.095041	T	0.09862	0.0242	L	0.27053	0.805	0.18873	N	0.999989	B	0.34200	0.441	B	0.28638	0.092	T	0.22977	-1.0201	10	0.26408	T	0.33	-9.1503	15.2018	0.73142	0.0:0.0:1.0:0.0	.	166	Q8WTR7	ZN473_HUMAN	K	166;166;154	ENSP00000270617:E166K;ENSP00000375697:E166K;ENSP00000388961:E154K	ENSP00000270617:E166K	E	+	1	0	ZNF473	55240008	0.000000	0.05858	0.024000	0.17045	0.176000	0.22953	0.086000	0.14935	2.715000	0.92844	0.655000	0.94253	GAA		0.483	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		A	50548196	G	A	50548196	3	1	338	1	0	0	0	0	1	0	0	0	17931	943	33	2	510	2	ZNF473	19	50548196	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	7963961	50548196	8580787	150	18228											
GPR32	2854	genome.wustl.edu	37	19	51274382	51274382	+	Silent	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:51274382G>A	ENST00000270590.4	+	1	662	c.525G>A	c.(523-525)gcG>gcA	p.A175A		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	175					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGTGCTCTGCGCACCTGAAAT	0.597																																					Esophageal Squamous(113;152 1581 5732 15840 44398)											0			19											48	49	49					19																	51274382		2203	4300	6503	55966194	SO:0001819	synonymous_variant	2854			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.525G>A	19.37:g.51274382G>A			55966194	Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	CCDS12801.1																																																																																				0.597	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			A	51274382	G	A	51274382	2	1	338	1	0	0	0	0	0	0	0	1	6688	1074	38	1		1	GPR32	19	51274382	Silent	SNP	G	TCGA-29-1761-01A-01W-0633-09	726186	51274382	7854601	151	18229											
ZNF610	162963	genome.wustl.edu	37	19	52869968	52869968	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr19:52869968A>G	ENST00000403906.3	+	6	1793	c.1337A>G	c.(1336-1338)cAt>cGt	p.H446R	ZNF610_ENST00000327920.8_Missense_Mutation_p.H446R|ZNF610_ENST00000601151.1_Missense_Mutation_p.H403R|ZNF610_ENST00000321287.8_Missense_Mutation_p.H446R	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CTTTCACGACATCGGAAAATT	0.403																																																0			19											78	76	77					19																	52869968		2203	4300	6503	57561780	SO:0001583	missense	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1337A>G	19.37:g.52869968A>G	ENSP00000383922:p.His446Arg		57561780	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.493724	0.44352	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	D;D	0.96200	-3.94;-3.94	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.97904	0.9311	H	0.94503	3.545	0.23036	N	0.9984	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	D	0.91757	0.5417	9	0.87932	D	0	.	8.2022	0.31432	1.0:0.0:0.0:0.0	.	403;446	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	R	446;403;446	ENSP00000383922:H446R;ENSP00000327597:H446R	ENSP00000324441:H403R	H	+	2	0	ZNF610	57561780	0.989000	0.36119	0.005000	0.12908	0.006000	0.05464	5.385000	0.66231	0.762000	0.33152	0.383000	0.25322	CAT		0.403	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		G	52869968	A	G	52869968	3	3	338	1	0	0	0	0	1	0	0	0	18036	217	8	4	1351	4	ZNF610	19	52869968	Missense_Mutation	SNP	A	TCGA-29-1761-01A-01W-0633-09	1595586	52869968	6259015	152	18230											
DEFB129	140881	genome.wustl.edu	37	20	210326	210326	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr20:210326G>T	ENST00000246105.4	+	2	497	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	156					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CAGAGATTCTGCCACTGCCTC	0.512																																																0			20											125	112	116					20																	210326		2203	4300	6503	158326	SO:0001583	missense	140881			AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.466G>T	20.37:g.210326G>T	ENSP00000246105:p.Ala156Ser		158326	Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	37	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198543	0.38806	.	.	ENSG00000125903	ENST00000246105	T	0.43688	0.94	4.26	2.27	0.28462	.	0.891435	0.09560	N	0.785724	T	0.30665	0.0772	L	0.32530	0.975	0.09310	N	1	P	0.46987	0.888	B	0.41571	0.36	T	0.10965	-1.0607	10	0.39692	T	0.17	-1.1742	6.0935	0.20007	0.1032:0.1901:0.7067:0.0	.	156	Q9H1M3	DB129_HUMAN	S	156	ENSP00000246105:A156S	ENSP00000246105:A156S	A	+	1	0	DEFB129	158326	0.002000	0.14202	0.001000	0.08648	0.040000	0.13550	0.768000	0.26590	0.732000	0.32470	0.462000	0.41574	GCC		0.512	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		T	210326	G	T	210326	3	4	338	1	0	0	0	0	1	0	0	0	4415	1319	46	3	472	3	DEFB129	20	210326	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09		210326	62815194	153	18231											
C20orf194	25943	genome.wustl.edu	37	20	3298935	3298935	+	Splice_Site	SNP	C	C	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr20:3298935C>A	ENST00000252032.9	-	17	1536		c.e17+1		C20orf194_ENST00000453730.2_Splice_Site|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CATATACTTACCCTTTTCTTT	0.333																																																0			20											80	78	79					20																	3298935		1813	4076	5889	3246935	SO:0001630	splice_region_variant	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1468+1G>T	20.37:g.3298935C>A			3246935	Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195139	0.58017	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4594	0.90734	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf194	3246935	1.000000	0.71417	0.998000	0.56505	0.615000	0.37417	5.962000	0.70364	2.639000	0.89480	0.650000	0.86243	.		0.333	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	Intron	A	3298935	C	A	3298935	5	1	338	1	0	0	0	0	0	0	1	0	2099	521	18	3	2148	3	C20orf194	20	3298935	Splice_Site	SNP	C	TCGA-29-1761-01A-01W-0633-09	3088609	3298935	59726585	154	18232											
RASSF2	9770	genome.wustl.edu	37	20	4768359	4768359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr20:4768359G>A	ENST00000379400.3	-	10	928	c.733C>T	c.(733-735)Cga>Tga	p.R245*	RASSF2_ENST00000478553.1_Intron|RASSF2_ENST00000379376.2_Nonsense_Mutation_p.R245*	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	245	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGGAGGATTCGGGCAATCAGC	0.542																																					Melanoma(158;1891 3343 50738)											0			20											138	115	123					20																	4768359		2203	4300	6503	4716359	SO:0001587	stop_gained	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.733C>T	20.37:g.4768359G>A	ENSP00000368710:p.Arg245*		4716359	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Nonsense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	G	37	6.172061	0.97348	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	.	.	.	5.41	4.42	0.53409	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4701	0.67512	0.0:0.0:0.8531:0.1469	.	.	.	.	X	245	.	ENSP00000368684:R245X	R	-	1	2	RASSF2	4716359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.616000	0.54174	2.815000	0.96918	0.561000	0.74099	CGA		0.542	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		A	4768359	G	A	4768359	4	1	338	1	0	0	0	0	0	1	0	0	13089	1124	39	1	259	1	RASSF2	20	4768359	Nonsense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	1469424	4768359	58257161	155	18233											
CRLS1	54675	genome.wustl.edu	37	20	6017787	6017787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr20:6017787C>T	ENST00000378863.4	+	7	1046	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	CRLS1_ENST00000452938.1_3'UTR|CRLS1_ENST00000378868.4_Nonsense_Mutation_p.Q198*	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	297					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			lung(3)|ovary(1)	4						GAAGACTGTTCAGGTGATAAA	0.398																																																0			20											113	106	109					20																	6017787		2203	4300	6503	5965787	SO:0001587	stop_gained	54675			AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"GCD10 homolog (S. cerevisiae)"	608188	"chromosome 20 open reading frame 155"	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.889C>T	20.37:g.6017787C>T	ENSP00000368140:p.Gln297*		5965787	D3DW09|E9PAT4|Q27RP0|Q69YQ5	Nonsense_Mutation	SNP	ENST00000378863.4	37	CCDS13096.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128497	0.94473	.	.	ENSG00000088766	ENST00000378863;ENST00000378868	.	.	.	5.68	5.68	0.88126	.	0.376325	0.31922	N	0.006849	.	.	.	.	.	.	0.50039	D	0.99984	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.2456	12.2598	0.54645	0.1696:0.8304:0.0:0.0	.	.	.	.	X	297;198	.	ENSP00000368140:Q297X	Q	+	1	0	CRLS1	5965787	0.997000	0.39634	1.000000	0.80357	0.974000	0.67602	2.582000	0.46085	2.680000	0.91292	0.655000	0.94253	CAG		0.398	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077902.2	NM_019095		T	6017787	C	T	6017787	4	4	338	1	0	0	0	0	0	1	0	0	3889	827	29	2	928	2	CRLS1	20	6017787	Nonsense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	1249428	6017787	57007733	156	18234											
CD93	22918	genome.wustl.edu	37	20	23065155	23065155	+	Missense_Mutation	SNP	G	G	T	rs373765657		TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr20:23065155G>T	ENST00000246006.4	-	1	1822	c.1675C>A	c.(1675-1677)Cag>Aag	p.Q559K		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	559					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGGCTCCTGGGGGCCAGAG	0.627																																																0			20											62	66	65					20																	23065155		2203	4300	6503	23013155	SO:0001583	missense	22918			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1675C>A	20.37:g.23065155G>T	ENSP00000246006:p.Gln559Lys		23013155	O00274	Missense_Mutation	SNP	ENST00000246006.4	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	2.601	-0.293082	0.05568	.	.	ENSG00000125810	ENST00000246006	T	0.79454	-1.27	5.88	0.694	0.18062	.	3.672290	0.00896	N	0.002295	T	0.59865	0.2225	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.48127	-0.9062	10	0.05833	T	0.94	-0.0426	3.0003	0.06011	0.106:0.3275:0.3582:0.2083	.	559	Q9NPY3	C1QR1_HUMAN	K	559	ENSP00000246006:Q559K	ENSP00000246006:Q559K	Q	-	1	0	CD93	23013155	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.528000	0.06193	-0.077000	0.12752	-0.136000	0.14681	CAG		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		T	23065155	G	T	23065155	3	4	338	1	0	0	0	0	1	0	0	0	3047	1357	47	3	291	3	CD93	20	23065155	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09	17047368	23065155	39960365	157	18235											
DSN1	79980	genome.wustl.edu	37	20	35390885	35390885	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr20:35390885T>A	ENST00000426836.1	-	6	941	c.569A>T	c.(568-570)aAa>aTa	p.K190I	DSN1_ENST00000448110.2_Missense_Mutation_p.K174I|DSN1_ENST00000373734.4_Missense_Mutation_p.K83I|DSN1_ENST00000373740.3_Missense_Mutation_p.K118I|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_Missense_Mutation_p.K190I|DSN1_ENST00000373745.3_Missense_Mutation_p.K190I	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	190					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TTCAAAACATTTTTGTAGAGT	0.393																																																0			20											84	79	81					20																	35390885		2201	4300	6501	34824299	SO:0001583	missense	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.569A>T	20.37:g.35390885T>A	ENSP00000389810:p.Lys190Ile		34824299	B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398649	0.62177	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	4.82	3.73	0.42828	.	0.245286	0.39909	N	0.001224	T	0.46718	0.1407	L	0.34521	1.04	0.29605	N	0.847402	D;D	0.69078	0.997;0.997	D;D	0.65573	0.936;0.93	T	0.42189	-0.9466	9	0.72032	D	0.01	-2.3263	7.1225	0.25453	0.0:0.101:0.0:0.899	.	83;190	Q5JW55;Q9H410	.;DSN1_HUMAN	I	190;190;174;123;190;118;83;174;190;90	.	ENSP00000362838:K123I	K	-	2	0	DSN1	34824299	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.714000	0.37961	0.990000	0.38787	0.402000	0.26972	AAA		0.393	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		A	35390885	T	A	35390885	3	1	338	1	0	0	0	0	1	0	0	0	4780	1841	64	5	525	5	DSN1	20	35390885	Missense_Mutation	SNP	T	TCGA-29-1761-01A-01W-0633-09	12325730	35390885	27634635	158	18236											
TEF	7008	genome.wustl.edu	37	22	41791848	41791848	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr22:41791848G>C	ENST00000266304.4	+	4	912	c.796G>C	c.(796-798)Gcc>Ccc	p.A266P	TEF_ENST00000406644.3_Missense_Mutation_p.A236P	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	266	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CATCCGGGCAGCCTTCCTGGA	0.567																																																0			22											117	101	107					22																	41791848		2203	4300	6503	40121794	SO:0001583	missense	7008				CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"basic leucine zipper proteins"	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.796G>C	22.37:g.41791848G>C	ENSP00000266304:p.Ala266Pro		40121794	B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Missense_Mutation	SNP	ENST00000266304.4	37	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718035	0.96839	.	.	ENSG00000167074	ENST00000406644;ENST00000433913;ENST00000266304	T;T	0.44083	0.93;0.93	5.8	5.8	0.92144	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.108387	0.64402	D	0.000008	T	0.70859	0.3272	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.985;0.997;0.994	T	0.73780	-0.3875	10	0.66056	D	0.02	-20.0085	20.0693	0.97712	0.0:0.0:1.0:0.0	.	271;266;236	B4DIH3;Q10587;Q10587-2	.;TEF_HUMAN;.	P	236;236;266	ENSP00000385256:A236P;ENSP00000266304:A266P	ENSP00000266304:A266P	A	+	1	0	TEF	40121794	1.000000	0.71417	0.967000	0.41034	0.961000	0.63080	9.414000	0.97362	2.758000	0.94735	0.563000	0.77884	GCC		0.567	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		C	41791848	G	C	41791848	3	2	338	1	0	0	0	0	1	0	0	0	15750	971	34	3	881	3	TEF	22	41791848	Missense_Mutation	SNP	G	TCGA-29-1761-01A-01W-0633-09		41791848	9512718	159	18237											
XRCC6	2547	genome.wustl.edu	37	22	42043031	42043031	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chr22:42043031C>T	ENST00000359308.4	+	6	1560	c.905C>T	c.(904-906)aCc>aTc	p.T302I	XRCC6_ENST00000360079.3_Missense_Mutation_p.T302I|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000405506.1_Missense_Mutation_p.T252I|XRCC6_ENST00000405878.1_Missense_Mutation_p.T302I|XRCC6_ENST00000428575.2_Missense_Mutation_p.T169I|XRCC6_ENST00000402580.3_Missense_Mutation_p.T261I			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	302	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AAGACCCGGACCTTTAATACA	0.458								Non-homologous end-joining																																								0			22											124	134	131					22																	42043031		2203	4300	6503	40372977	SO:0001583	missense	2547			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.905C>T	22.37:g.42043031C>T	ENSP00000352257:p.Thr302Ile		40372977	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	C	9.620	1.133525	0.21041	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	4.97	3.96	0.45880	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);DNA helicase, ATP-dependent, Ku type (1);	0.292569	0.41001	N	0.000966	T	0.40619	0.1124	N	0.25060	0.705	0.41085	D	0.985559	B;B;B;B	0.23990	0.042;0.023;0.095;0.023	B;B;B;B	0.28784	0.028;0.028;0.094;0.028	T	0.21143	-1.0254	9	0.26408	T	0.33	-6.5064	8.1951	0.31392	0.0:0.7432:0.0:0.2568	.	252;302;261;302	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	I	302;261;169;302;302;302;252	.	ENSP00000352257:T302I	T	+	2	0	XRCC6	40372977	0.909000	0.30893	1.000000	0.80357	0.731000	0.41821	1.478000	0.35442	1.227000	0.43598	0.655000	0.94253	ACC		0.458	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		T	42043031	C	T	42043031	3	4	338	1	0	0	0	0	1	0	0	0	17457	507	18	2	927	2	XRCC6	22	42043031	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	251183	42043031	9261535	160	18238											
SMC1A	8243	genome.wustl.edu	37	X	53432034	53432034	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chrX:53432034C>G	ENST00000322213.4	-	13	2233	c.2106G>C	c.(2104-2106)caG>caC	p.Q702H	SMC1A_ENST00000375340.6_Missense_Mutation_p.Q468H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	702					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GGGCCTGAGACTGCACCTGAC	0.562																																																0			X											105	68	81					X																	53432034		2203	4300	6503	53448759	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2106G>C	X.37:g.53432034C>G	ENSP00000323421:p.Gln702His		53448759	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819993	0.71028	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	T;D	0.85861	-1.19;-2.04	5.28	5.28	0.74379	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.91270	0.7248	M	0.80616	2.505	0.58432	D	0.999999	D;D;D	0.58620	0.98;0.964;0.983	D;P;P	0.66979	0.948;0.737;0.838	D	0.91851	0.5491	10	0.66056	D	0.02	.	11.219	0.48844	0.0:0.9084:0.0:0.0916	.	468;680;702	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	H	702;468	ENSP00000323421:Q702H;ENSP00000364489:Q468H	ENSP00000323421:Q702H	Q	-	3	2	SMC1A	53448759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.422000	0.44696	2.362000	0.80069	0.600000	0.82982	CAG		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		G	53432034	C	G	53432034	3	3	338	1	0	0	0	0	1	0	0	0	14784	564	20	3	1647	3	SMC1A	23	53432034	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09		53432034	101838526	161	18239											
ODZ1	10178	genome.wustl.edu	37	X	123517675	123517675	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chrX:123517675C>G	ENST00000371130.3	-	29	7148	c.7085G>C	c.(7084-7086)gGa>gCa	p.G2362A	TENM1_ENST00000422452.2_Missense_Mutation_p.G2369A|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2362					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATCATAGAGTCCTCCATGAAA	0.423																																																0			X											114	108	110					X																	123517675		2203	4300	6503	123345356	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7085G>C	X.37:g.123517675C>G	ENSP00000360171:p.Gly2362Ala		123345356	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053880	0.75960	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.88509	-2.39;-2.36	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	M	0.92412	3.305	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.997;0.999	D	0.96715	0.9528	10	0.87932	D	0	.	19.1445	0.93459	0.0:1.0:0.0:0.0	.	2368;2369;2362	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	2362;2369	ENSP00000360171:G2362A;ENSP00000403954:G2369A	ENSP00000360171:G2362A	G	-	2	0	ODZ1	123345356	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.471000	0.83476	0.600000	0.82982	GGA		0.423	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		G	123517675	C	G	123517675	3	3	338	1	0	0	0	0	1	0	0	0	10834	855	30	3	1104	3	ODZ1	23	123517675	Missense_Mutation	SNP	C	TCGA-29-1761-01A-01W-0633-09	70085641	123517675	31752885	162	18240											
ENOX2	10495	genome.wustl.edu	37	X	129804016	129804016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chrX:129804016delC	ENST00000370927.1	-	5	725	c.704delG	c.(703-705)agafs	p.R235fs	ENOX2_ENST00000338144.3_Frame_Shift_Del_p.R235fs|ENOX2_ENST00000394363.1_Frame_Shift_Del_p.R206fs|ENOX2_ENST00000370935.1_Frame_Shift_Del_p.R206fs			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	235					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TGGACGCAATCTTTCTTCTTC	0.468																																					Ovarian(101;828 1506 2951 9500 35258)											0			X											233	176	195					X																	129804016		2203	4300	6503	129631697	SO:0001589	frameshift_variant	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.704delG	X.37:g.129804016delC	ENSP00000359965:p.Arg235fs		129631697	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Frame_Shift_Del	DEL	ENST00000370927.1	37	CCDS14626.1																																																																																				0.468	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		-	129804016	C	-	129804016	7	5	338	1	0	1	0	1	0	0	0	0	5127	913	32	0	1164	0	ENOX2	23	129804016	Frame_Shift_Del	DEL	C	TCGA-29-1761-01A-01W-0633-09	6286341	129804016	25466544	163	18241											
F8	2157	genome.wustl.edu	37	X	154134847	154134847	+	Splice_Site	SNP	C	C	T			TCGA-29-1761-01A-01W-0633-09	TCGA-29-1761-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	9cd97680-82f8-4827-bc49-f3bb5e413b0e	bebb3242-ccdf-4555-8153-5e66c94046e8	g.chrX:154134847C>T	ENST00000360256.4	-	15	5421	c.5221G>A	c.(5221-5223)Gct>Act	p.A1741T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1741	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCACTCTGAGCCCTGGAGAAA	0.428																																																0			X											71	67	68					X																	154134847		2203	4300	6503	153788041	SO:0001630	splice_region_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5220-1G>A	X.37:g.154134847C>T			153788041	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793887	0.31777	.	.	ENSG00000185010	ENST00000360256	D	0.99226	-5.59	5.5	3.66	0.41972	Cupredoxin (2);	0.835010	0.10986	N	0.612199	D	0.96543	0.8872	N	0.14661	0.345	0.22066	N	0.999385	B	0.20459	0.045	B	0.16722	0.016	D	0.92382	0.5914	10	0.33141	T	0.24	-1.8611	10.1804	0.42963	0.3614:0.6386:0.0:0.0	.	1741	P00451	FA8_HUMAN	T	1741	ENSP00000353393:A1741T	ENSP00000353393:A1741T	A	-	1	0	F8	153788041	0.350000	0.24878	0.244000	0.24202	0.942000	0.58702	1.170000	0.31883	0.460000	0.27045	0.600000	0.82982	GCT		0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Missense_Mutation	T	154134847	C	T	154134847	5	4	338	1	0	0	0	0	0	0	1	0	5350	753	26	2	1910	2	F8	23	154134847	Splice_Site	SNP	C	TCGA-29-1761-01A-01W-0633-09	24330831	154134847	1135713	164	18242											
L1TD1	54596	genome.wustl.edu	37	1	62675857	62675865	+	In_Frame_Del	DEL	GACTCTGTA	GACTCTGTA	-	rs369089117		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	GACTCTGTA	GACTCTGTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr1:62675857_62675865delGACTCTGTA	ENST00000498273.1	+	4	1706_1714	c.1411_1419delGACTCTGTA	c.(1411-1419)gactctgtadel	p.DSV471del	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	471	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TACTTTCATTGACTCTGTAGAGGATTCTG	0.426																																																0			1																																								62448453	SO:0001651	inframe_deletion	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1411_1419delGACTCTGTA	1.37:g.62675857_62675865delGACTCTGTA	ENSP00000419901:p.Asp471_Val473del		62448445	Q8NDA1|Q9NUV8|Q9NV78	In_Frame_Del	DEL	ENST00000498273.1	37	CCDS619.1																																																																																				0.426	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		-	62675865	GACTCTGTA	-	62675857	7	5	339	1	0	1	0	1	0	0	0	0	8589	1290	45	0	1417	0	L1TD1	1	62675857	In_Frame_Del	DEL	GACTCTGTA	TCGA-29-1762-01A-01W-0633-09		62675857	186574764	1	18243											
CASQ2	845	genome.wustl.edu	37	1	116283408	116283408	+	Missense_Mutation	SNP	G	G	T	rs570840019	byFrequency	TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr1:116283408G>T	ENST00000261448.5	-	3	600	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	121					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCTATTGTGCGATCACCCTTA	0.448																																																0			1											118	100	106					1																	116283408		2203	4300	6503	116084931	SO:0001583	missense	845			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.361C>A	1.37:g.116283408G>T	ENSP00000261448:p.Arg121Ser		116084931	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	CCDS884.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994524	0.74703	.	.	ENSG00000118729	ENST00000261448;ENST00000446755	T	0.74421	-0.84	5.97	5.97	0.96955	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.76838	2.35	0.80722	D	1	P	0.47302	0.893	P	0.46659	0.523	T	0.69595	-0.5103	10	0.12103	T	0.63	-8.3492	17.3406	0.87294	0.0:0.0:1.0:0.0	.	121	O14958	CASQ2_HUMAN	S	121	ENSP00000261448:R121S	ENSP00000261448:R121S	R	-	1	0	CASQ2	116084931	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.200000	0.72118	2.828000	0.97474	0.655000	0.94253	CGC		0.448	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		T	116283408	G	T	116283408	3	4	339	1	0	0	0	0	1	0	0	0	2681	1058	37	3	874	3	CASQ2	1	116283408	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	53607551	116283408	132967213	2	18244											
THEM5	284486	genome.wustl.edu	37	1	151824771	151824771	+	Silent	SNP	C	C	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr1:151824771C>A	ENST00000368817.5	-	2	419	c.288G>T	c.(286-288)cgG>cgT	p.R96R	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	96					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTTGAGTCCCCGGATGTGGT	0.537																																																0			1											131	115	121					1																	151824771		2203	4300	6503	150091395	SO:0001819	synonymous_variant	284486			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.288G>T	1.37:g.151824771C>A			150091395	Q5T1C3	Silent	SNP	ENST00000368817.5	37	CCDS1005.1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.180231	0.01633	.	.	ENSG00000196407	ENST00000453881	.	.	.	5.28	-2.92	0.05615	.	.	.	.	.	T	0.06508	0.0167	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.34502	-0.9826	4	.	.	.	-5.479	1.3525	0.02176	0.1451:0.3085:0.1424:0.4041	.	.	.	.	V	43	.	.	G	-	2	0	THEM5	150091395	0.004000	0.15560	0.020000	0.16555	0.021000	0.10359	-0.364000	0.07583	-0.154000	0.11118	0.655000	0.94253	GGG		0.537	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		A	151824771	C	A	151824771	2	1	339	1	0	0	0	0	0	0	0	1	15859	610	22	3		3	THEM5	1	151824771	Silent	SNP	C	TCGA-29-1762-01A-01W-0633-09	35541363	151824771	97425850	3	18245											
LCE1F	353137	genome.wustl.edu	37	1	152749037	152749037	+	Missense_Mutation	SNP	G	G	T	rs149277953	byFrequency	TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr1:152749037G>T	ENST00000334371.2	+	1	190	c.190G>T	c.(190-192)Ggt>Tgt	p.G64C		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	64	Poly-Gly.				keratinization (GO:0031424)			p.G64_G65delGG(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGTGGTGGCTG	0.672																																																1	Deletion - In frame(1)	stomach(1)	1											30	33	32					1																	152749037		2201	4299	6500	151015661	SO:0001583	missense	353137				CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.190G>T	1.37:g.152749037G>T	ENSP00000334187:p.Gly64Cys		151015661		Missense_Mutation	SNP	ENST00000334371.2	37	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	G	0.313	-0.966748	0.02232	.	.	ENSG00000240386	ENST00000334371	T	0.03889	3.77	3.4	-6.78	0.01721	.	.	.	.	.	T	0.01661	0.0053	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47649	-0.9101	9	0.87932	D	0	.	14.4444	0.67340	0.0:0.0:0.7696:0.2304	.	64	Q5T754	LCE1F_HUMAN	C	64	ENSP00000334187:G64C	ENSP00000334187:G64C	G	+	1	0	LCE1F	151015661	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.316000	0.08071	-0.746000	0.04766	-0.459000	0.05422	GGT		0.672	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		T	152749037	G	T	152749037	3	4	339	1	0	0	0	0	1	0	0	0	8664	1232	43	3	192	3	LCE1F	1	152749037	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	924266	152749037	96501584	4	18246											
NPR1	4881	genome.wustl.edu	37	1	153659203	153659203	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr1:153659203T>C	ENST00000368680.3	+	11	2312	c.1840T>C	c.(1840-1842)Tac>Cac	p.Y614H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCTCACAGAGTACTGTCCCCG	0.602																																					Pancreas(141;1349 1870 15144 15830 40702)											0			1											70	65	67					1																	153659203		2203	4300	6503	151925827	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1840T>C	1.37:g.153659203T>C	ENSP00000357669:p.Tyr614His		151925827	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950966	0.73787	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.68903	-0.36	4.11	4.11	0.48088	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.74520	0.3727	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.70016	0.914;0.967	T	0.76110	-0.3079	10	0.42905	T	0.14	.	11.4002	0.49866	0.0:0.0:0.0:1.0	.	93;614	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	614;93	ENSP00000357669:Y614H	ENSP00000357669:Y614H	Y	+	1	0	NPR1	151925827	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.986000	0.70563	1.852000	0.53769	0.379000	0.24179	TAC		0.602	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		C	153659203	T	C	153659203	3	2	339	1	0	0	0	0	1	0	0	0	10594	1638	57	4	1882	4	NPR1	1	153659203	Missense_Mutation	SNP	T	TCGA-29-1762-01A-01W-0633-09	910166	153659203	95591418	5	18247											
FCGR2C	2214	genome.wustl.edu	37	1	161569434	161569434	+	Intron	SNP	A	A	T			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr1:161569434A>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2C_ENST00000543859.1_RNA|FCGR2C_ENST00000466542.2_RNA|FCGR2B_ENST00000367962.4_Intron|RP11-25K21.6_ENST00000537821.2_RNA			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ctggacgtcaaatgattgcca	0.448																																																0			1											51	50	51					1																	161569434		2189	4296	6485	159836058	SO:0001627	intron_variant	9103			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+30723T>A	1.37:g.161569434A>T			159836058	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37																																																																																					0.448	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		T	161569434	A	T	161569434	1	4	339	0	1	0	0	0	0	0	0	0	5783	11	1	5		5	FCGR2C	1	161569434	Intron	SNP	A	TCGA-29-1762-01A-01W-0633-09	7910231	161569434	87681187	6	18248											
LAMC2	3918	genome.wustl.edu	37	1	183195831	183195831	+	Splice_Site	SNP	A	A	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr1:183195831A>C	ENST00000264144.4	+	9	1131		c.e9-1		LAMC2_ENST00000493293.1_Splice_Site	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TCTCGATTGCAGGTACTGGGT	0.458																																																0			1											93	97	95					1																	183195831		2203	4300	6503	181462454	SO:0001630	splice_region_variant	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1067-1A>C	1.37:g.183195831A>C			181462454	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Splice_Site	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002529	0.74932	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4012	0.74843	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMC2	181462454	1.000000	0.71417	0.999000	0.59377	0.781000	0.44180	8.557000	0.90700	2.032000	0.59987	0.448000	0.29417	.		0.458	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	Intron	C	183195831	A	C	183195831	5	2	339	1	0	0	0	0	0	0	1	0	8615	202	7	5	1099	5	LAMC2	1	183195831	Splice_Site	SNP	A	TCGA-29-1762-01A-01W-0633-09	21626397	183195831	66054790	7	18249											
OR2W5	441932	genome.wustl.edu	37	1	247655327	247655327	+	RNA	SNP	G	G	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr1:247655327G>A	ENST00000522351.1	+	0	958							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATGTGAAGGGGACCATGAAGA	0.502																																																0			1											76	75	75					1																	247655327		2203	4300	6503	245721950			441932					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655327G>A			245721950	B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37																																																																																					0.502	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		A	247655327	G	A	247655327	1	1	339	0	1	0	0	0	0	0	0	0	11034	1174	41	2		2	OR2W5	1	247655327	RNA	SNP	G	TCGA-29-1762-01A-01W-0633-09	64459496	247655327	1595294	8	18250											
ADCY3	109	genome.wustl.edu	37	2	25045456	25045456	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr2:25045456G>A	ENST00000260600.5	-	18	3778	c.2927C>T	c.(2926-2928)aCc>aTc	p.T976I	ADCY3_ENST00000405392.1_Missense_Mutation_p.T563I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	976					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCTGCCAATGGTTTTGATCTT	0.527																																																0			2											139	119	126					2																	25045456		2203	4300	6503	24898960	SO:0001583	missense	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2927C>T	2.37:g.25045456G>A	ENSP00000260600:p.Thr976Ile		24898960	B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217845	0.95104	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.34667	1.35;1.35	5.55	5.55	0.83447	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.962	D;D;P	0.97110	1.0;1.0;0.884	T	0.73375	-0.4002	10	0.87932	D	0	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	977;976;563	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	976;563;951	ENSP00000260600:T976I;ENSP00000384484:T563I	ENSP00000260600:T976I	T	-	2	0	ADCY3	24898960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.555000	0.98123	2.894000	0.99253	0.655000	0.94253	ACC		0.527	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			A	25045456	G	A	25045456	3	1	339	1	0	0	0	0	1	0	0	0	295	1261	44	2	523	2	ADCY3	2	25045456	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09		25045456	218153917	9	18251											
ZNF638	27332	genome.wustl.edu	37	2	71653702	71653702	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr2:71653702C>G	ENST00000409544.1	+	24	5333	c.4703C>G	c.(4702-4704)aCt>aGt	p.T1568S	ZNF638_ENST00000264447.4_Missense_Mutation_p.T1568S|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.T508S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1568					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGGAAAGAAACTCTCAAAAAT	0.378																																																0			2											78	79	79					2																	71653702		2203	4300	6503	71507210	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4703C>G	2.37:g.71653702C>G	ENSP00000386433:p.Thr1568Ser		71507210	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799288	0.31869	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.29142	1.58;1.58;1.99	5.53	4.64	0.57946	.	0.664334	0.14425	N	0.320366	T	0.13798	0.0334	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.16289	0.015;0.0	T	0.05599	-1.0875	10	0.02654	T	1	-5.7705	10.7887	0.46419	0.0:0.9097:0.0:0.0903	.	1568;1568	Q14966-3;Q14966	.;ZN638_HUMAN	S	1568;1568;508;508	ENSP00000264447:T1568S;ENSP00000386433:T1568S;ENSP00000386813:T508S	ENSP00000264447:T1568S	T	+	2	0	ZNF638	71507210	0.000000	0.05858	0.991000	0.47740	0.792000	0.44763	0.275000	0.18698	2.594000	0.87642	0.655000	0.94253	ACT		0.378	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		G	71653702	C	G	71653702	3	3	339	1	0	0	0	0	1	0	0	0	18055	565	20	3	4793	3	ZNF638	2	71653702	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	46608246	71653702	171545671	10	18252											
SULT1C4	27233	genome.wustl.edu	37	2	108998879	108998879	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr2:108998879C>A	ENST00000272452.2	+	3	660	c.334C>A	c.(334-336)Ctg>Atg	p.L112M	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	112					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACCACGGATCCTGAAAACACA	0.388																																																0			2											257	242	247					2																	108998879		2203	4300	6503	108365311	SO:0001583	missense	27233			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.334C>A	2.37:g.108998879C>A	ENSP00000272452:p.Leu112Met		108365311	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683374	0.47991	.	.	ENSG00000198075	ENST00000272452	D	0.84070	-1.8	4.44	1.63	0.23807	Sulfotransferase domain (1);	0.000000	0.39274	N	0.001416	T	0.75722	0.3888	N	0.20530	0.585	0.80722	D	1	P	0.51933	0.949	P	0.54346	0.749	T	0.70364	-0.4892	10	0.42905	T	0.14	.	5.1354	0.14932	0.1538:0.5907:0.0:0.2555	.	112	O75897	ST1C4_HUMAN	M	112	ENSP00000272452:L112M	ENSP00000272452:L112M	L	+	1	2	SULT1C4	108365311	0.480000	0.25933	0.399000	0.26333	0.980000	0.70556	0.787000	0.26858	0.228000	0.21019	-0.208000	0.12717	CTG		0.388	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		A	108998879	C	A	108998879	3	1	339	1	0	0	0	0	1	0	0	0	15379	680	24	3	344	3	SULT1C4	2	108998879	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	37345177	108998879	134200494	11	18253											
RALB	5899	genome.wustl.edu	37	2	121047205	121047205	+	Missense_Mutation	SNP	G	G	T	rs372920618		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr2:121047205G>T	ENST00000272519.5	+	4	643	c.373G>T	c.(373-375)Gtc>Ttc	p.V125F	RALB_ENST00000474855.2_Missense_Mutation_p.V147F|RALB_ENST00000420510.1_Missense_Mutation_p.V125F|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000404963.3_Missense_Mutation_p.V146F	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	125					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				TCCACTGCTCGTCGTGGGAAA	0.507																																																0			2											124	131	129					2																	121047205		2203	4300	6503	120763675	SO:0001583	missense	5899				CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"ras related GTP binding protein B"	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.373G>T	2.37:g.121047205G>T	ENSP00000272519:p.Val125Phe		120763675	B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578096	0.45902	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.151177	0.43747	D	0.000536	T	0.82139	0.4972	L	0.41027	1.25	0.33628	D	0.605664	P;P;P	0.48350	0.909;0.897;0.521	P;P;P	0.62560	0.904;0.749;0.772	D	0.86693	0.1924	10	0.87932	D	0	.	14.2223	0.65836	0.0:0.0:0.8509:0.1491	.	147;146;125	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	F	147;147;125;125;146;125	ENSP00000402866:V147F;ENSP00000438764:V147F;ENSP00000272519:V125F;ENSP00000414224:V125F;ENSP00000384328:V146F;ENSP00000398162:V125F	ENSP00000272519:V125F	V	+	1	0	RALB	120763675	0.973000	0.33851	0.108000	0.21378	0.393000	0.30537	1.928000	0.40104	2.813000	0.96785	0.561000	0.74099	GTC		0.507	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		T	121047205	G	T	121047205	3	4	339	1	0	0	0	0	1	0	0	0	13014	1145	40	3	383	3	RALB	2	121047205	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	12048326	121047205	122152168	12	18254											
MAP3K2	10746	genome.wustl.edu	37	2	128079651	128079651	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr2:128079651G>T	ENST00000409947.1	-	12	1298	c.1016C>A	c.(1015-1017)aCc>aAc	p.T339N	MAP3K2_ENST00000344908.5_Missense_Mutation_p.T339N			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	339					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GTCCATTACGGTCAAAGTAGG	0.383																																																0			2											102	98	99					2																	128079651		1911	4107	6018	127796121	SO:0001583	missense	10746			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1016C>A	2.37:g.128079651G>T	ENSP00000387246:p.Thr339Asn		127796121	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302334	0.60195	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.66815	-0.23;-0.23	5.5	5.5	0.81552	.	0.112212	0.64402	D	0.000009	T	0.55784	0.1942	N	0.19112	0.55	0.54753	D	0.999983	B	0.17852	0.024	B	0.20184	0.028	T	0.48811	-0.9002	10	0.33940	T	0.23	.	19.3906	0.94581	0.0:0.0:1.0:0.0	.	339	Q9Y2U5	M3K2_HUMAN	N	339	ENSP00000387246:T339N;ENSP00000343463:T339N	ENSP00000343463:T339N	T	-	2	0	MAP3K2	127796121	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.308000	0.96247	2.592000	0.87571	0.467000	0.42956	ACC		0.383	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		T	128079651	G	T	128079651	3	4	339	1	0	0	0	0	1	0	0	0	9250	1261	44	3	867	3	MAP3K2	2	128079651	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	7032446	128079651	115119722	13	18255											
SSFA2	6744	genome.wustl.edu	37	2	182778598	182778598	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr2:182778598C>A	ENST00000431877.2	+	10	1692	c.1513C>A	c.(1513-1515)Cat>Aat	p.H505N	SSFA2_ENST00000320370.7_Missense_Mutation_p.H505N|SSFA2_ENST00000428267.2_Missense_Mutation_p.H352N|SSFA2_ENST00000409001.1_Missense_Mutation_p.H505N|SSFA2_ENST00000409136.1_Missense_Mutation_p.H14N	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	505						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGCAAGTCAGCATTCCGATAG	0.328																																																0			2											118	109	112					2																	182778598		2202	4300	6502	182486843	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1513C>A	2.37:g.182778598C>A	ENSP00000388731:p.His505Asn		182486843	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444086	0.83993	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.17054	2.54;2.3;2.53;2.54;2.31	5.16	5.16	0.70880	.	0.110757	0.64402	D	0.000007	T	0.44456	0.1294	M	0.73598	2.24	0.51012	D	0.999906	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.81914	0.995;0.991;0.991;0.991	T	0.32851	-0.9891	10	0.49607	T	0.09	-13.6133	19.0221	0.92919	0.0:1.0:0.0:0.0	.	352;505;505;505	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	N	505;505;505;352;14	ENSP00000388731:H505N;ENSP00000314669:H505N;ENSP00000387319:H505N;ENSP00000409867:H352N;ENSP00000386916:H14N	ENSP00000314669:H505N	H	+	1	0	SSFA2	182486843	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.465000	0.73538	2.554000	0.86153	0.557000	0.71058	CAT		0.328	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		A	182778598	C	A	182778598	3	1	339	1	0	0	0	0	1	0	0	0	15185	710	25	3	1551	3	SSFA2	2	182778598	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	54698947	182778598	60420775	14	18256											
MFSD6	54842	genome.wustl.edu	37	2	191301892	191301892	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr2:191301892G>T	ENST00000392328.1	+	3	1461	c.1137G>T	c.(1135-1137)atG>atT	p.M379I	MFSD6_ENST00000281416.7_Missense_Mutation_p.M379I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	379					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GCGTTCTCATGACCATGGCCT	0.507																																																0			2											84	71	75					2																	191301892		2203	4300	6503	191010137	SO:0001583	missense	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1137G>T	2.37:g.191301892G>T	ENSP00000376141:p.Met379Ile		191010137	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570077	0.86542	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.80480	-1.38;-1.38	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.83450	0.5257	L	0.34521	1.04	0.80722	D	1	D	0.55800	0.973	P	0.58780	0.845	T	0.80614	-0.1304	10	0.34782	T	0.22	-38.3478	19.848	0.96722	0.0:0.0:1.0:0.0	.	379	Q6ZSS7	MFSD6_HUMAN	I	379	ENSP00000376141:M379I;ENSP00000281416:M379I	ENSP00000281416:M379I	M	+	3	0	MFSD6	191010137	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	ATG		0.507	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			T	191301892	G	T	191301892	3	4	339	1	0	0	0	0	1	0	0	0	9535	1290	45	3	1139	3	MFSD6	2	191301892	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	8523294	191301892	51897481	15	18257											
FAM119A	151194	genome.wustl.edu	37	2	208477946	208477946	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr2:208477946G>C	ENST00000411432.1	-	4	697	c.481C>G	c.(481-483)Cat>Gat	p.H161D	METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000426075.1_Missense_Mutation_p.H161D|METTL21A_ENST00000406927.2_Missense_Mutation_p.H161D|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.H161D|METTL21A_ENST00000272839.3_Missense_Mutation_p.H179D|METTL21A_ENST00000448007.2_Missense_Mutation_p.H161D	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	161					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTACAGAGATGTTCCAGTGTC	0.393																																																0			2											135	136	136					2																	208477946		2203	4300	6503	208186191	SO:0001583	missense	151194			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.481C>G	2.37:g.208477946G>C	ENSP00000415115:p.His161Asp		208186191	Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173994	0.38413	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	5.36	-0.601	0.11638	.	0.225765	0.53938	D	0.000054	T	0.11324	0.0276	L	0.28556	0.865	0.58432	D	0.999998	B	0.18610	0.029	B	0.26614	0.071	T	0.20306	-1.0279	10	0.23891	T	0.37	-4.1524	10.0857	0.42417	0.3952:0.0:0.6048:0.0	.	161	Q8WXB1	MT21A_HUMAN	D	161;161;179;161;161;161	ENSP00000415115:H161D;ENSP00000407622:H161D;ENSP00000272839:H179D;ENSP00000385481:H161D;ENSP00000403317:H161D;ENSP00000392062:H161D	ENSP00000272839:H179D	H	-	1	0	METTL21A	208186191	0.935000	0.31712	0.135000	0.22099	0.995000	0.86356	1.435000	0.34969	-0.307000	0.08804	0.561000	0.74099	CAT		0.393	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		C	208477946	G	C	208477946	3	2	339	1	0	0	0	0	1	0	0	0	5413	1377	48	3	179	3	FAM119A	2	208477946	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	17176054	208477946	34721427	16	18258											
FN1	2335	genome.wustl.edu	37	2	216226788	216226788	+	Missense_Mutation	SNP	G	G	T	rs150636748		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr2:216226788G>T	ENST00000359671.1	-	44	7258	c.6993C>A	c.(6991-6993)gaC>gaA	p.D2331E	FN1_ENST00000356005.4_Missense_Mutation_p.D2241E|FN1_ENST00000354785.4_Missense_Mutation_p.D2422E|FN1_ENST00000323926.6_Missense_Mutation_p.D2391E|FN1_ENST00000432072.2_Missense_Mutation_p.D2212E|FN1_ENST00000336916.4_Missense_Mutation_p.D2300E|FN1_ENST00000346544.3_Missense_Mutation_p.D2156E|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.D2185E|FN1_ENST00000345488.5_Missense_Mutation_p.D2129E|FN1_ENST00000357867.4_Missense_Mutation_p.D2121E|FN1_ENST00000446046.1_Missense_Mutation_p.D2275E|FN1_ENST00000443816.1_Missense_Mutation_p.D2210E			P02751	FINC_HUMAN	fibronectin 1	2331	Fibrin-binding 2.|Fibronectin type-I 12. {ECO:0000255|PROSITE-ProRule:PRU00478}.				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)		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)	TGCGGCAGTTGTCACAGCGCC	0.473																																																0			2						G	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	0,4406		0,0,2203	97	86	90		6900,6363,6723,6825,7266	4.2	1	2	dbSNP_134	90	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	45,45,45,45,45	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2300/2356,2121/2177,2241/2297,2275/2331,2422/2478	216226788	1,13005	2203	4300	6503	215935033	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.6993C>A	2.37:g.216226788G>T	ENSP00000352696:p.Asp2331Glu		215935033	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		.	.	.	.	.	.	.	.	.	.	G	17.51	3.406485	0.62399	0.0	1.16E-4	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	0.95;2.29;2.47;1.04;2.58;2.23;2.48;2.23;2.22;1.72;1.03;1.67;1.0	5.97	4.16	0.48862	Fibronectin, type I (2);	0.000000	0.64402	D	0.000001	T	0.37320	0.0999	N	0.03050	-0.425	0.80722	D	1	B;B;B;D;D;B;D;D;D;D;D	0.65815	0.165;0.141;0.165;0.995;0.992;0.052;0.992;0.995;0.995;0.995;0.992	B;B;B;D;D;B;D;D;D;D;D	0.85130	0.069;0.174;0.069;0.995;0.989;0.043;0.989;0.995;0.995;0.997;0.992	T	0.43130	-0.9410	10	0.31617	T	0.26	.	12.157	0.54083	0.1374:0.0:0.8626:0.0	.	2212;2391;2121;2241;2275;2300;2332;2185;2210;2422;2331	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	E	2185;2391;2300;2121;2422;2332;2331;2156;2129;2275;2210;2212;2241;1048	ENSP00000394423:D2185E;ENSP00000323534:D2391E;ENSP00000338200:D2300E;ENSP00000350534:D2121E;ENSP00000346839:D2422E;ENSP00000352696:D2331E;ENSP00000265312:D2156E;ENSP00000273049:D2129E;ENSP00000410422:D2275E;ENSP00000415018:D2210E;ENSP00000399538:D2212E;ENSP00000348285:D2241E;ENSP00000416139:D1048E	ENSP00000265313:D2332E	D	-	3	2	FN1	215935033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.335000	0.59298	1.528000	0.49103	0.650000	0.86243	GAC		0.473	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		T	216226788	G	T	216226788	3	4	339	1	0	0	0	0	1	0	0	0	5962	1368	48	3	175	3	FN1	2	216226788	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	7748842	216226788	26972585	17	18259											
XIRP1	165904	genome.wustl.edu	37	3	39227280	39227280	+	Silent	SNP	G	G	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr3:39227280G>A	ENST00000340369.3	-	2	3885	c.3657C>T	c.(3655-3657)ctC>ctT	p.L1219L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1219					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGCAGCTTGGAGGCCCCCTG	0.677																																																0			3											29	33	31					3																	39227280		2203	4300	6503	39202284	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3657C>T	3.37:g.39227280G>A			39202284	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																				0.677	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		A	39227280	G	A	39227280	2	1	339	1	0	0	0	0	0	0	0	1	17429	1161	41	2		2	XIRP1	3	39227280	Silent	SNP	G	TCGA-29-1762-01A-01W-0633-09		39227280	158795150	18	18260											
CCR8	1237	genome.wustl.edu	37	3	39374805	39374805	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr3:39374805G>A	ENST00000326306.4	+	2	1121	c.983G>A	c.(982-984)aGa>aAa	p.R328K	CCR8_ENST00000545843.1_Missense_Mutation_p.R245K|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	328					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TACCTAGGAAGACAAATGCCT	0.443																																																0			3											61	67	65					3																	39374805		2203	4300	6503	39349809	SO:0001583	missense	1237			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.983G>A	3.37:g.39374805G>A	ENSP00000326432:p.Arg328Lys		39349809	B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	G	2.855	-0.237479	0.05944	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.66815	1.21;-0.23	4.35	1.19	0.21007	.	0.441289	0.19469	N	0.113506	T	0.53834	0.1821	L	0.43152	1.355	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.50021	-0.8876	10	0.59425	D	0.04	.	7.7676	0.28988	0.33:0.0:0.67:0.0	.	328;245	P51685;Q3KNR3	CCR8_HUMAN;.	K	328;245	ENSP00000326432:R328K;ENSP00000440474:R245K	ENSP00000326432:R328K	R	+	2	0	CCR8	39349809	0.000000	0.05858	0.002000	0.10522	0.339000	0.28857	0.095000	0.15127	0.363000	0.24346	0.591000	0.81541	AGA		0.443	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		A	39374805	G	A	39374805	3	1	339	1	0	0	0	0	1	0	0	0	2947	942	33	2	985	2	CCR8	3	39374805	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	147525	39374805	158647625	19	18261											
SNRK	54861	genome.wustl.edu	37	3	43389559	43389559	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr3:43389559C>A	ENST00000296088.7	+	7	2112	c.1808C>A	c.(1807-1809)gCt>gAt	p.A603D	SNRK_ENST00000437827.1_Missense_Mutation_p.A397D|SNRK-AS1_ENST00000422681.1_RNA|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Missense_Mutation_p.A603D|SNRK_ENST00000454177.1_Missense_Mutation_p.A603D	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GAGAACAATGCTGGTGGGGGC	0.682																																																0			3											17	21	20					3																	43389559		1936	4131	6067	43364563	SO:0001583	missense	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1808C>A	3.37:g.43389559C>A	ENSP00000296088:p.Ala603Asp		43364563		Missense_Mutation	SNP	ENST00000296088.7	37	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021762	0.35701	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.64085	-0.08;-0.08;-0.08;2.84	4.97	3.96	0.45880	.	0.619767	0.17301	N	0.179258	T	0.45577	0.1349	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.15780	-1.0425	10	0.12430	T	0.62	.	10.585	0.45278	0.4226:0.5774:0.0:0.0	.	603	Q9NRH2	SNRK_HUMAN	D	603;603;603;397	ENSP00000401246:A603D;ENSP00000411375:A603D;ENSP00000296088:A603D;ENSP00000409516:A397D	ENSP00000296088:A603D	A	+	2	0	SNRK	43364563	0.018000	0.18449	0.177000	0.23020	0.977000	0.68977	2.748000	0.47483	2.476000	0.83614	0.557000	0.71058	GCT		0.682	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		A	43389559	C	A	43389559	3	1	339	1	0	0	0	0	1	0	0	0	14854	797	28	3	1826	3	SNRK	3	43389559	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	4014754	43389559	154632871	20	18262											
ATRIP	84126	genome.wustl.edu	37	3	48501765	48501765	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr3:48501765G>C	ENST00000320211.3	+	8	1425	c.1312G>C	c.(1312-1314)Gca>Cca	p.A438P	ATRIP_ENST00000346691.4_Missense_Mutation_p.A438P|ATRIP_ENST00000357105.6_Missense_Mutation_p.A311P|ATRIP_ENST00000412052.1_Missense_Mutation_p.A345P	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	438					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGGACTTGGCAGCTGCTAA	0.592								Other conserved DNA damage response genes																																								0			3											78	78	78					3																	48501765		2203	4300	6503	48476769	SO:0001583	missense	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1312G>C	3.37:g.48501765G>C	ENSP00000323099:p.Ala438Pro		48476769	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098924	0.56183	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.48201	1.39;1.39;0.82;1.4	5.55	4.66	0.58398	.	0.510022	0.22842	N	0.054973	T	0.60431	0.2268	L	0.60455	1.87	0.09310	N	1	D;D	0.67145	0.996;0.996	D;D	0.64410	0.925;0.925	T	0.53165	-0.8477	9	.	.	.	-5.0599	11.0477	0.47867	0.0874:0.0:0.9126:0.0	.	438;438	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	P	438;438;311;345	ENSP00000323099:A438P;ENSP00000302338:A438P;ENSP00000349620:A311P;ENSP00000400930:A345P	.	A	+	1	0	ATRIP	48476769	0.002000	0.14202	0.240000	0.24138	0.692000	0.40212	1.146000	0.31589	1.449000	0.47699	0.655000	0.94253	GCA		0.592	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		C	48501765	G	C	48501765	3	2	339	1	0	0	0	0	1	0	0	0	1205	1203	42	3	1342	3	ATRIP	3	48501765	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	5112206	48501765	149520665	21	18263											
PHLDB2	90102	genome.wustl.edu	37	3	111688589	111688589	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr3:111688589G>A	ENST00000431670.2	+	16	3779	c.3368G>A	c.(3367-3369)cGg>cAg	p.R1123Q	PHLDB2_ENST00000481953.1_Missense_Mutation_p.R1080Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R1107Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R1123Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R1080Q|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R614Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1123						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTTGATTTGCGGAGCCATGTA	0.458																																																0			3											88	92	91					3																	111688589		2203	4300	6503	113171279	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3368G>A	3.37:g.111688589G>A	ENSP00000405405:p.Arg1123Gln		113171279	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058724	0.76074	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.78456	2.415	0.53688	D	0.999976	D;D;D;D;D	0.89917	0.998;0.997;0.992;1.0;1.0	P;P;P;D;D	0.72625	0.534;0.801;0.777;0.978;0.978	D	0.87526	0.2449	10	0.66056	D	0.02	.	18.3611	0.90375	0.0:0.0:1.0:0.0	.	235;614;1123;1080;1107	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	Q	1107;1123;1080;1080;1123;1080;614	ENSP00000377500:R1107Q;ENSP00000405405:R1123Q;ENSP00000405292:R1080Q;ENSP00000418296:R1080Q;ENSP00000377502:R1123Q;ENSP00000418319:R1080Q;ENSP00000420303:R614Q	ENSP00000377500:R1107Q	R	+	2	0	PHLDB2	113171279	0.993000	0.37304	0.998000	0.56505	0.253000	0.25986	3.862000	0.56009	2.632000	0.89209	0.585000	0.79938	CGG		0.458	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		A	111688589	G	A	111688589	3	1	339	1	0	0	0	0	1	0	0	0	11852	1116	39	1	3511	1	PHLDB2	3	111688589	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	63186824	111688589	86333841	22	18264											
SUCNR1	56670	genome.wustl.edu	37	3	151599177	151599177	+	Silent	SNP	T	T	G			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr3:151599177T>G	ENST00000362032.5	+	3	951	c.846T>G	c.(844-846)ccT>ccG	p.P282P	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	282						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGACACGGCCTTTGGCCTTTC	0.468																																																0			3											166	147	153					3																	151599177		2203	4300	6503	153081867	SO:0001819	synonymous_variant	56670			AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"GPCR / Class A : Orphans"	4542	protein-coding gene	gene with protein product		606381	"G protein-coupled receptor 91"	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.846T>G	3.37:g.151599177T>G			153081867	A8K305|Q8TDQ8	Silent	SNP	ENST00000362032.5	37	CCDS3162.1																																																																																				0.468	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		G	151599177	T	G	151599177	2	3	339	1	0	0	0	0	0	0	0	1	15368	1596	56	5		5	SUCNR1	3	151599177	Silent	SNP	T	TCGA-29-1762-01A-01W-0633-09	39910588	151599177	46423253	23	18265											
EHHADH	1962	genome.wustl.edu	37	3	184910608	184910608	+	Silent	SNP	C	C	T	rs150207107		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr3:184910608C>T	ENST00000231887.3	-	7	1653	c.1578G>A	c.(1576-1578)ggG>ggA	p.G526G	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Silent_p.G430G	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	526	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CCACATCCAACCCAGCAAGAT	0.473																																																0			3						C	,	0,4406		0,0,2203	62	61	61		1290,1578	0.8	1	3	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EHHADH	NM_001166415.1,NM_001966.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	430/628,526/724	184910608	1,13005	2203	4300	6503	186393302	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1578G>A	3.37:g.184910608C>T			186393302	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	37	CCDS33901.1																																																																																				0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			T	184910608	C	T	184910608	2	4	339	1	0	0	0	0	0	0	0	1	4982	494	18	2		2	EHHADH	3	184910608	Silent	SNP	C	TCGA-29-1762-01A-01W-0633-09	33311431	184910608	13111822	24	18266											
LIPH	200879	genome.wustl.edu	37	3	185252855	185252855	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr3:185252855G>C	ENST00000296252.4	-	2	256	c.115C>G	c.(115-117)Cta>Gta	p.L39V	LIPH_ENST00000424591.2_Missense_Mutation_p.L39V	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	39					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCACATTTAGTCCCGTACCA	0.458																																																0			3											163	165	164					3																	185252855		2203	4300	6503	186735549	SO:0001583	missense	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.115C>G	3.37:g.185252855G>C	ENSP00000296252:p.Leu39Val		186735549	A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835508	0.50951	.	.	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.91124	-2.79;-2.79	6.08	6.08	0.98989	Lipase, N-terminal (1);	0.137199	0.50627	D	0.000120	D	0.92018	0.7471	L	0.35644	1.08	0.47308	D	0.999384	D;P	0.69078	0.997;0.938	P;P	0.62298	0.9;0.773	D	0.88632	0.3170	10	0.19590	T	0.45	-15.6121	19.6529	0.95825	0.0:0.0:1.0:0.0	.	39;39	A2IBA6;Q8WWY8	.;LIPH_HUMAN	V	39	ENSP00000296252:L39V;ENSP00000396384:L39V	ENSP00000296252:L39V	L	-	1	2	LIPH	186735549	1.000000	0.71417	0.135000	0.22099	0.367000	0.29736	4.192000	0.58378	2.890000	0.99128	0.655000	0.94253	CTA		0.458	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			C	185252855	G	C	185252855	3	2	339	1	0	0	0	0	1	0	0	0	8824	1020	36	3	1276	3	LIPH	3	185252855	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	342247	185252855	12769575	25	18267											
KLB	152831	genome.wustl.edu	37	4	39435960	39435960	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr4:39435960G>A	ENST00000257408.4	+	2	1053	c.956G>A	c.(955-957)tGt>tAt	p.C319Y		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	319	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ATATTCAAATGTCAACAATCC	0.473																																																0			4											129	115	120					4																	39435960		2203	4300	6503	39112355	SO:0001583	missense	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.956G>A	4.37:g.39435960G>A	ENSP00000257408:p.Cys319Tyr		39112355	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314282	0.60414	.	.	ENSG00000134962	ENST00000257408	T	0.28895	1.59	6.17	6.17	0.99709	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60964	-0.7158	10	0.87932	D	0	-34.6854	20.8794	0.99867	0.0:0.0:1.0:0.0	.	319;319	B7ZL50;Q86Z14	.;KLOTB_HUMAN	Y	319	ENSP00000257408:C319Y	ENSP00000257408:C319Y	C	+	2	0	KLB	39112355	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TGT		0.473	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		A	39435960	G	A	39435960	3	1	339	1	0	0	0	0	1	0	0	0	8332	1377	48	2	962	2	KLB	4	39435960	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09		39435960	151718316	26	18268											
FAT4	79633	genome.wustl.edu	37	4	126372139	126372139	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr4:126372139G>C	ENST00000394329.3	+	9	9981	c.9968G>C	c.(9967-9969)aGc>aCc	p.S3323T	FAT4_ENST00000335110.5_Missense_Mutation_p.S1621T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3323	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTTTGCTAGCGACCGTGAT	0.398																																																0			4											99	99	99					4																	126372139		2203	4300	6503	126591589	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9968G>C	4.37:g.126372139G>C	ENSP00000377862:p.Ser3323Thr		126591589	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	7.401	0.632688	0.14322	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01323	5.01;5.01	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.40222	U	0.001160	T	0.01489	0.0048	N	0.00493	-1.44	0.54753	D	0.99998	D;D;D	0.76494	0.99;0.999;0.996	D;D;D	0.87578	0.979;0.998;0.99	T	0.68569	-0.5374	10	0.02654	T	1	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	1621;3323;3323	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	3323;1621	ENSP00000377862:S3323T;ENSP00000335169:S1621T	ENSP00000335169:S1621T	S	+	2	0	FAT4	126591589	1.000000	0.71417	0.995000	0.50966	0.860000	0.49131	7.682000	0.84083	2.542000	0.85734	0.655000	0.94253	AGC		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126372139	G	C	126372139	3	2	339	1	0	0	0	0	1	0	0	0	5692	971	34	3	10002	3	FAT4	4	126372139	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	86936179	126372139	64782137	27	18269											
PIK3R1	5295	genome.wustl.edu	37	5	67591102	67591102	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr5:67591102C>A	ENST00000521381.1	+	13	2311	c.1695C>A	c.(1693-1695)agC>agA	p.S565R	PIK3R1_ENST00000396611.1_Missense_Mutation_p.S565R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.S202R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.S295R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.S565R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.S265R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.S565R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	565					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTATGAACAGCATTAAACCAG	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)	5											151	149	150					5																	67591102		2203	4300	6503	67626858	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1695C>A	5.37:g.67591102C>A	ENSP00000428056:p.Ser565Arg		67626858	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071808	0.76301	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13;1.13	4.7	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.76574	2.34	0.80722	D	1	D;P;P;D	0.89917	1.0;0.865;0.865;1.0	D;P;P;D	0.76071	0.967;0.642;0.642;0.987	T	0.62548	-0.6831	10	0.59425	D	0.04	-18.2259	11.2468	0.49002	0.0:0.8497:0.0:0.1503	.	235;295;265;565	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	565;565;565;565;265;295;202	ENSP00000428056:S565R;ENSP00000429277:S565R;ENSP00000379855:S565R;ENSP00000274335:S565R;ENSP00000323512:S265R;ENSP00000338554:S295R;ENSP00000430098:S202R	ENSP00000274335:S565R	S	+	3	2	PIK3R1	67626858	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.911000	0.56378	0.684000	0.31448	0.585000	0.79938	AGC		0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		A	67591102	C	A	67591102	3	1	339	1	0	0	0	0	1	0	0	0	11918	709	25	3	1871	3	PIK3R1	5	67591102	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09		67591102	113324158	28	18270											
PCDHGB1	56104	genome.wustl.edu	37	5	140731313	140731313	+	Missense_Mutation	SNP	G	G	C	rs370474605		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr5:140731313G>C	ENST00000523390.1	+	1	1486	c.1486G>C	c.(1486-1488)Gag>Cag	p.E496Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	496	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCCGCGGGAGCTGTTGTC	0.647																																																0			5											36	42	40					5																	140731313		1982	4175	6157	140711497	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1486G>C	5.37:g.140731313G>C	ENSP00000429273:p.Glu496Gln		140711497	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	8.878	0.950953	0.18431	.	.	ENSG00000254221	ENST00000523390	T	0.61510	0.1	5.49	4.57	0.56435	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46249	0.1383	N	0.20807	0.61	0.09310	N	1	B;B	0.16166	0.005;0.016	B;B	0.19666	0.026;0.026	T	0.44329	-0.9335	9	0.72032	D	0.01	.	14.89	0.70600	0.0:0.2682:0.7318:0.0	.	496;496	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	Q	496	ENSP00000429273:E496Q	ENSP00000429273:E496Q	E	+	1	0	PCDHGB1	140711497	0.000000	0.05858	0.491000	0.27477	0.249000	0.25844	-0.545000	0.06069	2.740000	0.93945	0.563000	0.77884	GAG		0.647	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		C	140731313	G	C	140731313	3	2	339	1	0	0	0	0	1	0	0	0	11562	1175	41	3	1488	3	PCDHGB1	5	140731313	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	73140211	140731313	40183947	29	18271											
PLG	5340	genome.wustl.edu	37	6	161139775	161139775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr6:161139775G>A	ENST00000308192.9	+	9	1064	c.1001G>A	c.(1000-1002)tGg>tAg	p.W334*		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	334	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGGGCCCCATGGTGCCATACA	0.463																																																0			6											85	85	85					6																	161139775		2203	4300	6503	161059765	SO:0001587	stop_gained	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1001G>A	6.37:g.161139775G>A	ENSP00000308938:p.Trp334*		161059765	Q15146|Q5TEH4|Q6PA00	Nonsense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790860	0.90367	.	.	ENSG00000122194	ENST00000308192	.	.	.	5.2	5.2	0.72013	.	0.000000	0.37348	U	0.002123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6707	0.88216	0.0:0.0:1.0:0.0	.	.	.	.	X	334	.	ENSP00000308938:W334X	W	+	2	0	PLG	161059765	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	8.492000	0.90471	2.708000	0.92522	0.563000	0.77884	TGG		0.463	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		A	161139775	G	A	161139775	4	1	339	1	0	0	0	0	0	1	0	0	12086	1357	47	2	1039	2	PLG	6	161139775	Nonsense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09		161139775	9975292	30	18272											
LAT2	7462	genome.wustl.edu	37	7	73630370	73630370	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr7:73630370C>G	ENST00000460943.1	+	3	954	c.65C>G	c.(64-66)gCc>gGc	p.A22G	LAT2_ENST00000275635.7_Missense_Mutation_p.A22G|LAT2_ENST00000398475.1_Missense_Mutation_p.A22G|LAT2_ENST00000344995.5_Missense_Mutation_p.A22G	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGGTGGCAGCCAGTCTGTGT	0.632																																																0			7											41	52	49					7																	73630370		2155	4252	6407	73268306	SO:0001583	missense	7462			AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"linker for activation of B cells", "non-T cell activation linker", "linker for activation of T cells, transmembrane adaptor 2"	605719	"Williams-Beuren syndrome chromosome region 5"	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.65C>G	7.37:g.73630370C>G	ENSP00000420494:p.Ala22Gly		73268306	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783424	0.31593	.	.	ENSG00000086730	ENST00000465116;ENST00000344995;ENST00000460943;ENST00000475494;ENST00000398475;ENST00000361082;ENST00000275635;ENST00000470709	T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	3.49	3.49	0.39957	.	0.158956	0.29009	N	0.013427	T	0.26122	0.0637	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	D	0.65684	0.937	T	0.01591	-1.1317	10	0.59425	D	0.04	-11.2323	10.7933	0.46445	0.0:1.0:0.0:0.0	.	22	Q9GZY6	NTAL_HUMAN	G	22	ENSP00000420549:A22G;ENSP00000344881:A22G;ENSP00000420494:A22G;ENSP00000417533:A22G;ENSP00000381492:A22G;ENSP00000354374:A22G;ENSP00000275635:A22G;ENSP00000419150:A22G	ENSP00000275635:A22G	A	+	2	0	LAT2	73268306	0.599000	0.26891	0.016000	0.15963	0.002000	0.02628	2.761000	0.47589	2.256000	0.74724	0.561000	0.74099	GCC		0.632	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			G	73630370	C	G	73630370	3	3	339	1	0	0	0	0	1	0	0	0	8645	739	26	3	67	3	LAT2	7	73630370	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09		73630370	85508293	31	18273											
FBXL13	222235	genome.wustl.edu	37	7	102518012	102518012	+	Nonsense_Mutation	SNP	G	G	A	rs368775610		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr7:102518012G>A	ENST00000313221.4	-	16	1963	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R513*|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R513*|FBXL13_ENST00000393772.2_Nonsense_Mutation_p.R513*	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	513								p.R513*(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCACAATTTCGTAAACTCAAG	0.323													G|||	1	0.000199681	0	0	5008	,	,		16359	0.001		0	False		,,,				2504	0															2	Substitution - Nonsense(2)	endometrium(2)	7						G	stop/ARG,stop/ARG	0,4406		0,0,2203	75	79	78		1537,1537	0.2	1	7		78	1,8579	1.2+/-3.3	0,1,4289	no	stop-gained,stop-gained	FBXL13	NM_001111038.1,NM_145032.3	,	0,1,6492	AA,AG,GG		0.0117,0.0,0.0077	,	513/691,513/736	102518012	1,12985	2203	4290	6493	102305248	SO:0001587	stop_gained	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1537C>T	7.37:g.102518012G>A	ENSP00000321927:p.Arg513*		102305248	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Nonsense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	39	7.576611	0.98368	0.0	1.17E-4	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	.	.	.	5.55	0.15	0.14883	.	0.151243	0.42172	D	0.000753	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.9248	0.35634	0.0687:0.0:0.4301:0.5013	.	.	.	.	X	513;513;234;513;513;513;513	.	ENSP00000321927:R513X	R	-	1	2	FBXL13	102305248	0.991000	0.36638	0.988000	0.46212	0.538000	0.34931	0.541000	0.23207	-0.177000	0.10690	-0.321000	0.08615	CGA		0.323	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		A	102518012	G	A	102518012	4	1	339	1	0	0	0	0	0	1	0	0	5709	1153	40	1	690	1	FBXL13	7	102518012	Nonsense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	28887642	102518012	56620651	32	18274											
DLGAP2	9228	genome.wustl.edu	37	8	1514032	1514032	+	Missense_Mutation	SNP	G	G	A	rs545241585		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr8:1514032G>A	ENST00000421627.2	+	3	1308	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	471					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAAGTCCATCGGACAGAGACC	0.577													G|||	1	0.000199681	0	0.0014	5008	,	,		16800	0		0	False		,,,				2504	0															0			8											31	35	34					8																	1514032		2131	4265	6396	1501439	SO:0001583	missense	9228			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1174G>A	8.37:g.1514032G>A	ENSP00000400258:p.Gly392Arg		1501439	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	4.429	0.079276	0.08533	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	D	0.89123	-2.47	4.55	2.71	0.32032	.	0.548695	0.20937	N	0.082981	T	0.75568	0.3867	N	0.17674	0.51	0.25849	N	0.983969	P;B	0.36837	0.571;0.357	B;B	0.26969	0.075;0.05	T	0.63075	-0.6718	10	0.23891	T	0.37	0.001	10.0446	0.42180	0.1689:0.0:0.8311:0.0	.	471;471	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	R	437;392	ENSP00000400258:G392R	ENSP00000348366:G437R	G	+	1	0	DLGAP2	1501439	0.574000	0.26684	0.001000	0.08648	0.483000	0.33249	1.411000	0.34702	0.448000	0.26722	0.585000	0.79938	GGA		0.577	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		A	1514032	G	A	1514032	3	1	339	1	0	0	0	0	1	0	0	0	4560	1117	39	1	1180	1	DLGAP2	8	1514032	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09		1514032	144849990	33	18275											
CSMD1	64478	genome.wustl.edu	37	8	2910123	2910123	+	Silent	SNP	G	G	A	rs367730492	byFrequency	TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr8:2910123G>A	ENST00000520002.1	-	51	8079	c.7524C>T	c.(7522-7524)acC>acT	p.T2508T	CSMD1_ENST00000400186.3_Silent_p.T2508T|CSMD1_ENST00000602723.1_Silent_p.T2508T|CSMD1_ENST00000542608.1_Silent_p.T2507T|CSMD1_ENST00000537824.1_Silent_p.T2507T|CSMD1_ENST00000602557.1_Silent_p.T2508T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2508	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		ACTCGTTCCCGGTAAATGAAC	0.438													G|||	4	0.000798722	0.0023	0	5008	,	,		16766	0		0	False		,,,				2504	0.001															0			8						G		11,3703		0,11,1846	53	50	51		7521	-4.3	0	8		51	0,8226		0,0,4113	no	coding-synonymous	CSMD1	NM_033225.5		0,11,5959	AA,AG,GG		0.0,0.2962,0.0921		2507/3565	2910123	11,11929	1857	4113	5970	2897530	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.7524C>T	8.37:g.2910123G>A			2897530	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	0.035	-1.310422	0.01342	0.002962	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.13	-4.26	0.03755	.	.	.	.	.	T	0.35307	0.0927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32851	-0.9891	4	.	.	.	.	0.2498	0.00204	0.2276:0.2456:0.1963:0.3305	.	.	.	.	W	1925	.	.	R	-	1	2	CSMD1	2897530	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.202000	0.00560	-1.264000	0.02452	-0.171000	0.13296	CGG		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	2910123	G	A	2910123	2	1	339	1	0	0	0	0	0	0	0	1	3944	1103	39	1		1	CSMD1	8	2910123	Silent	SNP	G	TCGA-29-1762-01A-01W-0633-09	1396091	2910123	143453899	34	18276											
RAD54B	25788	genome.wustl.edu	37	8	95479690	95479690	+	Silent	SNP	A	A	G			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr8:95479690A>G	ENST00000336148.5	-	2	202	c.78T>C	c.(76-78)agT>agC	p.S26S	RAD54B_ENST00000297592.5_Silent_p.S26S	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	26					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GACCTGGATTACTTCTTCCTG	0.363								Direct reversal of damage;Homologous recombination																																								0			8											133	129	130					8																	95479690		2203	4300	6503	95548866	SO:0001819	synonymous_variant	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.78T>C	8.37:g.95479690A>G			95548866	F6WBS8	Silent	SNP	ENST00000336148.5	37	CCDS6262.1																																																																																				0.363	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		G	95479690	A	G	95479690	2	3	339	1	0	0	0	0	0	0	0	1	12995	388	14	4		4	RAD54B	8	95479690	Silent	SNP	A	TCGA-29-1762-01A-01W-0633-09	92569567	95479690	50884332	35	18277											
HIATL1	84641	genome.wustl.edu	37	9	97218544	97218544	+	Missense_Mutation	SNP	G	G	A	rs201761715		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr9:97218544G>A	ENST00000375344.3	+	10	1320	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	351					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCAGGGACCGTGGCTGCCAT	0.562																																					Pancreas(77;1260 1915 1973 10423)											0			9											107	82	91					9																	97218544		2203	4300	6503	96258365	SO:0001583	missense	84641			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1051G>A	9.37:g.97218544G>A	ENSP00000364493:p.Val351Met		96258365	B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405282	0.83230	.	.	ENSG00000148110	ENST00000375344;ENST00000277183	D	0.82081	-1.57	5.05	5.05	0.67936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000041	T	0.80014	0.4546	L	0.41573	1.285	0.80722	D	1	P	0.51791	0.948	P	0.45195	0.473	T	0.81364	-0.0966	10	0.49607	T	0.09	-8.3655	16.2969	0.82781	0.0:0.0:1.0:0.0	.	351	Q5SR56	HIAL1_HUMAN	M	351;56	ENSP00000364493:V351M	ENSP00000277183:V56M	V	+	1	0	HIATL1	96258365	1.000000	0.71417	0.991000	0.47740	0.954000	0.61252	5.178000	0.65037	2.804000	0.96469	0.655000	0.94253	GTG		0.562	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		A	97218544	G	A	97218544	3	1	339	1	0	0	0	0	1	0	0	0	7098	1145	40	1	1089	1	HIATL1	9	97218544	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09		97218544	43994887	36	18278											
ITGA8	8516	genome.wustl.edu	37	10	15634228	15634228	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr10:15634228T>A	ENST00000378076.3	-	22	2640	c.2287A>T	c.(2287-2289)Aga>Tga	p.R763*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	763					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCTAACCTTCTGATTTGGAGA	0.393																																																0			10											138	122	127					10																	15634228		2203	4300	6503	15674234	SO:0001587	stop_gained	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2287A>T	10.37:g.15634228T>A	ENSP00000367316:p.Arg763*		15674234	B0YJ31|Q5VX94	Nonsense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	44	11.047667	0.99508	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.48	4.32	0.51571	.	0.258372	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.2107	0.48797	0.0:0.0:0.1537:0.8463	.	.	.	.	X	763;748	.	ENSP00000367316:R763X	R	-	1	2	ITGA8	15674234	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.006000	0.63978	0.981000	0.38548	0.482000	0.46254	AGA		0.393	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		A	15634228	T	A	15634228	4	1	339	1	0	0	0	0	0	1	0	0	7882	1588	55	5	940	5	ITGA8	10	15634228	Nonsense_Mutation	SNP	T	TCGA-29-1762-01A-01W-0633-09		15634228	119900519	37	18279											
GAD2	2572	genome.wustl.edu	37	10	26575274	26575274	+	Splice_Site	SNP	G	G	T	rs185111133	byFrequency	TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr10:26575274G>T	ENST00000376261.3	+	13	1740	c.1237G>T	c.(1237-1239)Gga>Tga	p.G413*	GAD2_ENST00000259271.3_Splice_Site_p.G413*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	413					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCTTGTAGGGATTGATGCA	0.348																																																0			10											98	88	91					10																	26575274		2203	4300	6503	26615280	SO:0001630	splice_region_variant	2572			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1237-1G>T	10.37:g.26575274G>T			26615280	Q9UD87	Nonsense_Mutation	SNP	ENST00000376261.3	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	38	6.893681	0.97916	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.948	18.27	0.90065	0.0:0.0:1.0:0.0	.	.	.	.	X	413	.	.	G	+	1	0	GAD2	26615280	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	9.438000	0.97539	2.306000	0.77630	0.655000	0.94253	GGA		0.348	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818	Nonsense_Mutation	T	26575274	G	T	26575274	5	4	339	1	0	0	0	0	0	0	1	0	6180	1246	43	3	1287	3	GAD2	10	26575274	Splice_Site	SNP	G	TCGA-29-1762-01A-01W-0633-09	10941046	26575274	108959473	38	18280											
HPS6	79803	genome.wustl.edu	37	10	103826236	103826236	+	Silent	SNP	G	G	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr10:103826236G>C	ENST00000299238.5	+	1	1090	c.1005G>C	c.(1003-1005)ctG>ctC	p.L335L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	335					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TGGAACTGCTGGACATGGGCA	0.622									Hermansky-Pudlak syndrome																																							0			10											66	67	67					10																	103826236		2203	4300	6503	103816226	SO:0001819	synonymous_variant	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1005G>C	10.37:g.103826236G>C			103816226	Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	CCDS7527.1																																																																																				0.622	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		C	103826236	G	C	103826236	2	2	339	1	0	0	0	0	0	0	0	1	7343	1335	47	3		3	HPS6	10	103826236	Silent	SNP	G	TCGA-29-1762-01A-01W-0633-09	77250962	103826236	31708511	39	18281											
OR2D2	120776	genome.wustl.edu	37	11	6913259	6913259	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr11:6913259A>C	ENST00000299459.2	-	1	571	c.473T>G	c.(472-474)gTa>gGa	p.V158G		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	158					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGTGGTGTCTACCACAGACAC	0.502																																																0			11											124	93	104					11																	6913259		2201	4296	6497	6869835	SO:0001583	missense	120776			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.473T>G	11.37:g.6913259A>C	ENSP00000299459:p.Val158Gly		6869835	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	a	22.1	4.249239	0.80024	.	.	ENSG00000166368	ENST00000299459	T	0.38722	1.12	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.152816	0.30492	N	0.009505	T	0.49064	0.1535	N	0.21142	0.635	0.58432	D	0.999998	D	0.64830	0.994	D	0.69824	0.966	T	0.52510	-0.8566	10	0.66056	D	0.02	-19.968	13.2293	0.59933	1.0:0.0:0.0:0.0	.	158	Q9H210	OR2D2_HUMAN	G	158	ENSP00000299459:V158G	ENSP00000299459:V158G	V	-	2	0	OR2D2	6869835	0.002000	0.14202	0.996000	0.52242	0.984000	0.73092	2.038000	0.41184	2.291000	0.77112	0.524000	0.50904	GTA		0.502	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		C	6913259	A	C	6913259	3	2	339	1	0	0	0	0	1	0	0	0	10994	391	14	5	456	5	OR2D2	11	6913259	Missense_Mutation	SNP	A	TCGA-29-1762-01A-01W-0633-09		6913259	128093257	40	18282											
NRIP3	56675	genome.wustl.edu	37	11	9005441	9005441	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr11:9005441C>G	ENST00000309166.3	-	6	804	c.691G>C	c.(691-693)Gtc>Ctc	p.V231L	NRIP3_ENST00000531090.1_3'UTR	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	231							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TTCAAAGAGACTGTCTCCACA	0.468																																																0			11											168	157	161					11																	9005441		2201	4296	6497	8962017	SO:0001583	missense	56675			AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"chromosome 11 open reading frame 14"	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.691G>C	11.37:g.9005441C>G	ENSP00000310205:p.Val231Leu		8962017	Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	CCDS31422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.53|12.53	1.964914|1.964914	0.34659|0.34659	.|.	.|.	ENSG00000175352|ENSG00000175352	ENST00000534759|ENST00000309166;ENST00000531142	.|T	.|0.44881	.|0.91	5.92|5.92	-0.633|-0.633	0.11519|0.11519	.|.	.|0.688144	.|0.15049	.|N	.|0.283430	T|T	0.21962|0.21962	0.0529|0.0529	L|L	0.32530|0.32530	0.975|0.975	0.27449|0.27449	N|N	0.953485|0.953485	.|B	.|0.16166	.|0.016	.|B	.|0.15052	.|0.012	T|T	0.19778|0.19778	-1.0295|-1.0295	5|10	.|0.13853	.|T	.|0.58	.|.	1.6245|1.6245	0.02720|0.02720	0.1375:0.3813:0.1207:0.3605|0.1375:0.3813:0.1207:0.3605	.|.	.|231	.|Q9NQ35	.|NRIP3_HUMAN	H|L	36|231;59	.|ENSP00000310205:V231L	.|ENSP00000310205:V231L	Q|V	-|-	3|1	2|0	NRIP3|NRIP3	8962017|8962017	0.028000|0.028000	0.19301|0.19301	0.823000|0.823000	0.32752|0.32752	0.897000|0.897000	0.52465|0.52465	-0.157000|-0.157000	0.10085|0.10085	-0.374000|-0.374000	0.07967|0.07967	-0.284000|-0.284000	0.09977|0.09977	CAG|GTC		0.468	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		G	9005441	C	G	9005441	3	3	339	1	0	0	0	0	1	0	0	0	10654	565	20	3	42	3	NRIP3	11	9005441	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	2092182	9005441	126001075	41	18283											
ATG2A	23130	genome.wustl.edu	37	11	64677175	64677175	+	Silent	SNP	T	T	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr11:64677175T>C	ENST00000377264.3	-	14	2197	c.2085A>G	c.(2083-2085)gaA>gaG	p.E695E	ATG2A_ENST00000421419.2_Silent_p.E695E	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	695					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCAGGTGAGTTCCAGGTGGG	0.647																																																0			11											52	60	57					11																	64677175		2201	4297	6498	64433751	SO:0001819	synonymous_variant	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2085A>G	11.37:g.64677175T>C			64433751	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	T	5.664	0.307139	0.10733	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.28	-1.84	0.07809	.	.	.	.	.	T	0.54143	0.1840	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50136	-0.8863	4	.	.	.	.	9.1378	0.36886	0.0:0.603:0.0:0.397	.	.	.	.	A	497	.	.	T	-	1	0	ATG2A	64433751	0.999000	0.42202	0.995000	0.50966	0.569000	0.35902	0.584000	0.23864	-0.229000	0.09854	0.459000	0.35465	ACT		0.647	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		C	64677175	T	C	64677175	2	2	339	1	0	0	0	0	0	0	0	1	1093	1722	60	4		4	ATG2A	11	64677175	Silent	SNP	T	TCGA-29-1762-01A-01W-0633-09	55671734	64677175	70329341	42	18284											
C11orf2	738	genome.wustl.edu	37	11	64877957	64877957	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr11:64877957G>C	ENST00000279281.3	+	8	1974	c.1882G>C	c.(1882-1884)Ggg>Cgg	p.G628R	VPS51_ENST00000527646.1_3'UTR|TM7SF2_ENST00000279263.7_5'Flank|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_5'Flank|TM7SF2_ENST00000345348.5_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	628					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CCACCAGGTGGGGCTCCTGTA	0.597											OREG0021071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											97	105	102					11																	64877957		2201	4297	6498	64634533	SO:0001583	missense	738			AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1882G>C	11.37:g.64877957G>C	ENSP00000279281:p.Gly628Arg	1079	64634533	Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	CCDS8093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.602636|4.602636	0.87157|0.87157	.|.	.|.	ENSG00000149823|ENSG00000149823	ENST00000279281;ENST00000530673|ENST00000526856	.|.	.|.	.|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77765|0.77765	0.4179|0.4179	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.75484|.	0.986|.	T|T	0.79546|0.79546	-0.1759|-0.1759	9|5	0.62326|.	D|.	0.03|.	-1.8534|-1.8534	15.712|15.712	0.77635|0.77635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	628|.	Q9UID3|.	FFR_HUMAN|.	R|C	628;2|125	.|.	ENSP00000279281:G628R|.	G|W	+|+	1|3	0|0	C11orf2|C11orf2	64634533|64634533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.662000|0.662000	0.39071|0.39071	7.521000|7.521000	0.81832|0.81832	2.651000|2.651000	0.90000|0.90000	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.597	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		C	64877957	G	C	64877957	3	2	339	1	0	0	0	0	1	0	0	0	1633	1232	43	3	1912	3	C11orf2	11	64877957	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	200782	64877957	70128559	43	18285											
TMPRSS4	56649	genome.wustl.edu	37	11	117984005	117984005	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr11:117984005C>G	ENST00000437212.3	+	9	979	c.765C>G	c.(763-765)aaC>aaG	p.N255K	TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.N250K|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.N108K|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.N253K|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.N215K			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	255	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		ATGTGTTCAACTGGAAGGTGC	0.557																																																0			11											154	141	146					11																	117984005		2200	4296	6496	117489215	SO:0001583	missense	56649			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.765C>G	11.37:g.117984005C>G	ENSP00000416037:p.Asn255Lys		117489215	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.421164	0.01126	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.21	2.03	0.26663	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.886192	0.09843	N	0.748545	T	0.74749	0.3757	N	0.13140	0.3	0.28226	N	0.926301	B;B;B;B;B	0.32128	0.357;0.245;0.245;0.091;0.169	B;B;B;B;B	0.31101	0.124;0.124;0.124;0.124;0.079	T	0.64271	-0.6447	10	0.05436	T	0.98	.	8.2496	0.31708	0.0:0.6385:0.2673:0.0942	.	230;215;108;255;253	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	K	253;108;215;255;250	ENSP00000435184:N253K;ENSP00000428814:N108K;ENSP00000429209:N215K;ENSP00000416037:N255K;ENSP00000430547:N250K	ENSP00000416037:N255K	N	+	3	2	TMPRSS4	117489215	0.989000	0.36119	0.882000	0.34594	0.127000	0.20565	1.109000	0.31135	1.195000	0.43115	0.655000	0.94253	AAC		0.557	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		G	117984005	C	G	117984005	3	3	339	1	0	0	0	0	1	0	0	0	16249	564	20	3	799	3	TMPRSS4	11	117984005	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	53106048	117984005	17022511	44	18286											
SYT10	341359	genome.wustl.edu	37	12	33579107	33579107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr12:33579107G>A	ENST00000228567.3	-	2	771	c.475C>T	c.(475-477)Caa>Taa	p.Q159*	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	159					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTTGTCTTTGCACACGTGCA	0.413																																																0			12											186	194	191					12																	33579107		2203	4300	6503	33470374	SO:0001587	stop_gained	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.475C>T	12.37:g.33579107G>A	ENSP00000228567:p.Gln159*		33470374	Q495U2	Nonsense_Mutation	SNP	ENST00000228567.3	37	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	41	8.820291	0.98966	.	.	ENSG00000110975	ENST00000228567	.	.	.	3.78	3.78	0.43462	.	0.000000	0.39615	U	0.001310	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.8987	0.79356	0.0:0.0:1.0:0.0	.	.	.	.	X	159	.	ENSP00000228567:Q159X	Q	-	1	0	SYT10	33470374	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.728000	0.74769	2.390000	0.81377	0.655000	0.94253	CAA		0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		A	33579107	G	A	33579107	4	1	339	1	0	0	0	0	0	1	0	0	15466	1328	46	2	1120	2	SYT10	12	33579107	Nonsense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09		33579107	100272788	45	18287											
LRRC43	254050	genome.wustl.edu	37	12	122674832	122674832	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr12:122674832G>A	ENST00000339777.4	+	5	846	c.818G>A	c.(817-819)aGc>aAc	p.S273N	LRRC43_ENST00000425921.1_Missense_Mutation_p.S88N	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	273	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ACCATCGACAGCCTGGCCCAG	0.637																																																0			12											78	87	84					12																	122674832		2162	4265	6427	121240785	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.818G>A	12.37:g.122674832G>A	ENSP00000344233:p.Ser273Asn		121240785	Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543394	0.45280	.	.	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.23950	1.88;1.88;1.88	5.22	3.38	0.38709	.	0.278041	0.37955	N	0.001877	T	0.40448	0.1117	M	0.66939	2.045	0.30010	N	0.815227	D	0.60575	0.988	P	0.57911	0.829	T	0.37753	-0.9692	10	0.48119	T	0.1	-24.0656	10.3282	0.43807	0.0756:0.1434:0.781:0.0	.	273	Q8N309	LRC43_HUMAN	N	88;273;144;88	ENSP00000438751:S88N;ENSP00000344233:S273N;ENSP00000416628:S88N	ENSP00000289014:S144N	S	+	2	0	LRRC43	121240785	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	2.396000	0.44468	0.597000	0.29811	-0.258000	0.10820	AGC		0.637	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		A	122674832	G	A	122674832	3	1	339	1	0	0	0	0	1	0	0	0	9001	971	34	2	836	2	LRRC43	12	122674832	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	89095725	122674832	11177063	46	18288											
XPO4	64328	genome.wustl.edu	37	13	21401226	21401227	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	CT	CT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr13:21401226_21401227delCT	ENST00000255305.6	-	7	890_891	c.819_820delAG	c.(817-822)agagttfs	p.RV273fs	XPO4_ENST00000400602.2_Frame_Shift_Del_p.RV273fs			Q9C0E2	XPO4_HUMAN	exportin 4	273					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGCTCCATAACTCTGCTGTCCA	0.426																																																0			13																																								20299227	SO:0001589	frameshift_variant	64328			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.819_820delAG	13.37:g.21401228_21401229delCT	ENSP00000255305:p.Arg273fs		20299226	Q5VUZ5|Q8N3V6|Q9H934	Frame_Shift_Del	DEL	ENST00000255305.6	37	CCDS41872.1																																																																																				0.426	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		-	21401227	CT	-	21401226	7	5	339	1	0	1	0	1	0	0	0	0	17446	565	20	0	2703	0	XPO4	13	21401226	Frame_Shift_Del	DEL	CT	TCGA-29-1762-01A-01W-0633-09		21401226	93768652	47	18289											
BRCA2	675	genome.wustl.edu	37	13	32950890	32950890	+	Nonsense_Mutation	SNP	G	G	T	rs397508003|rs80359726		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr13:32950890G>T	ENST00000380152.3	+	21	8949	c.8716G>T	c.(8716-8718)Gaa>Taa	p.E2906*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.E2906*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2906					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGAGCTTTATGAAGCAGTGAA	0.403			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0			13											100	90	93					13																	32950890		2203	4300	6503	31848890	SO:0001587	stop_gained	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8716G>T	13.37:g.32950890G>T	ENSP00000369497:p.Glu2906*		31848890	O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	51	18.316770	0.99903	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.32	4.48	0.54585	.	0.051661	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	13.9278	0.63972	0.0734:0.0:0.9266:0.0	.	.	.	.	X	2906	.	ENSP00000369497:E2906X	E	+	1	0	BRCA2	31848890	1.000000	0.71417	0.884000	0.34674	0.972000	0.66771	7.923000	0.87546	1.230000	0.43646	0.655000	0.94253	GAA		0.403	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		T	32950890	G	T	32950890	4	4	339	1	0	0	0	0	0	1	0	0	1499	1291	45	3	8794	3	BRCA2	13	32950890	Nonsense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	11549664	32950890	82218988	48	18290											
SERPINE3	647174	genome.wustl.edu	37	13	51918552	51918552	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr13:51918552C>A	ENST00000521255.1	+	2	481	c.421C>A	c.(421-423)Cca>Aca	p.P141T	SERPINE3_ENST00000400389.4_Missense_Mutation_p.P141T|SERPINE3_ENST00000524365.1_Missense_Mutation_p.P141T	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	141					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CAGCCTGGAACCAGCCGACCT	0.567																																																0			13											38	40	39					13																	51918552		2037	4187	6224	50816553	SO:0001583	missense	0			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.421C>A	13.37:g.51918552C>A	ENSP00000428316:p.Pro141Thr		50816553	B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	C	0.346	-0.947594	0.02304	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	D;D;D	0.84298	-1.83;-1.83;-1.83	4.88	0.704	0.18121	Serpin domain (3);	1.271190	0.06476	N	0.731988	T	0.78097	0.4230	L	0.31476	0.935	0.09310	N	1	B;B	0.17465	0.022;0.013	B;B	0.12837	0.004;0.008	T	0.63611	-0.6598	10	0.46703	T	0.11	.	10.5664	0.45175	0.2399:0.5455:0.2146:0.0	.	141;141	A8MV23-2;A8MV23	.;SERP3_HUMAN	T	141	ENSP00000430755:P141T;ENSP00000428316:P141T;ENSP00000441468:P141T	ENSP00000441468:P141T	P	+	1	0	SERPINE3	50816553	0.197000	0.23362	0.565000	0.28409	0.862000	0.49288	0.365000	0.20348	0.241000	0.21283	0.655000	0.94253	CCA		0.567	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		A	51918552	C	A	51918552	3	1	339	1	0	0	0	0	1	0	0	0	14116	507	18	3	427	3	SERPINE3	13	51918552	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	18967662	51918552	63251326	49	18291											
COQ6	51004	genome.wustl.edu	37	14	74428239	74428239	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr14:74428239C>A	ENST00000334571.2	+	10	1216	c.1176C>A	c.(1174-1176)caC>caA	p.H392Q	COQ6_ENST00000238709.4_Missense_Mutation_p.H317Q|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.H367Q|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	392					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TGGCCCATCACCTCAGTACGG	0.507																																																0			14											89	77	81					14																	74428239		2203	4300	6503	73497992	SO:0001583	missense	51004			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"coenzyme Q6 homolog (yeast)", "coenzyme Q6 homolog, monooxygenase (yeast)", "coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.1176C>A	14.37:g.74428239C>A	ENSP00000333946:p.His392Gln		73497992	B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	CCDS9823.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.01|11.01	1.513566|1.513566	0.27123|0.27123	.|.	.|.	ENSG00000187097|ENSG00000119723	ENST00000555829|ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000557780;ENST00000556299	.|T;T;T	.|0.49720	.|0.77;0.77;0.77	5.33|5.33	2.35|2.35	0.29111|0.29111	.|Monooxygenase, FAD-binding (1);	.|0.259137	.|0.45126	.|D	.|0.000392	T|T	0.26702|0.26702	0.0653|0.0653	N|N	0.13198|0.13198	0.31|0.31	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.13145	.|0.005;0.001;0.007;0.003	.|B;B;B;B	.|0.19946	.|0.027;0.001;0.026;0.003	T|T	0.04005|0.04005	-1.0985|-1.0985	5|10	.|0.24483	.|T	.|0.36	-3.9602|-3.9602	7.6538|7.6538	0.28363|0.28363	0.0:0.5111:0.0:0.4889|0.0:0.5111:0.0:0.4889	.|.	.|367;392;317;317	.|B7Z3K8;Q9Y2Z9;G3XA86;Q86U30	.|.;COQ6_HUMAN;.;.	V|Q	80|367;317;317;392;80;80	.|ENSP00000377594:H367Q;ENSP00000238709:H317Q;ENSP00000333946:H392Q	.|ENSP00000238709:H317Q	G|H	-|+	2|3	0|2	ENTPD5|COQ6	73497992|73497992	0.979000|0.979000	0.34478|0.34478	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	0.232000|0.232000	0.17891|0.17891	0.299000|0.299000	0.22661|0.22661	0.655000|0.655000	0.94253|0.94253	GGT|CAC		0.507	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			A	74428239	C	A	74428239	3	1	339	1	0	0	0	0	1	0	0	0	3749	506	18	3	1214	3	COQ6	14	74428239	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09		74428239	32921301	50	18292											
WARS	7453	genome.wustl.edu	37	14	100809636	100809636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr14:100809636G>T	ENST00000355338.2	-	8	1533	c.915C>A	c.(913-915)tgC>tgA	p.C305*	RP11-638I2.8_ENST00000557226.1_RNA|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000557135.1_Nonsense_Mutation_p.C305*|WARS_ENST00000392882.2_Nonsense_Mutation_p.C305*|WARS_ENST00000344102.5_Nonsense_Mutation_p.C264*|WARS_ENST00000358655.4_Nonsense_Mutation_p.C264*|WARS_ENST00000556645.1_Nonsense_Mutation_p.C264*	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	305					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	ATGGGATAAGGCACTGGATAT	0.522																																																0			14											114	93	101					14																	100809636		2203	4300	6503	99879389	SO:0001587	stop_gained	7453			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.915C>A	14.37:g.100809636G>T	ENSP00000347495:p.Cys305*		99879389	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Nonsense_Mutation	SNP	ENST00000355338.2	37	CCDS9960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.102374|5.102374	0.94245|0.94245	.|.	.|.	ENSG00000140105|ENSG00000140105	ENST00000554601|ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	.|.	.|.	.|.	6.06|6.06	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.17959|.	0.0431|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.28364|.	-1.0046|.	3|.	.|0.02654	.|T	.|1	-5.5876|-5.5876	7.3754|7.3754	0.26825|0.26825	0.1786:0.0:0.8214:0.0|0.1786:0.0:0.8214:0.0	.|.	.|.	.|.	.|.	D|X	58|305;264;305;264;305;264	.|.	.|ENSP00000339485:C264X	A|C	-|-	2|3	0|2	WARS|WARS	99879389|99879389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	4.024000|4.024000	0.57218|0.57218	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.522	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		T	100809636	G	T	100809636	4	4	339	1	0	0	0	0	0	1	0	0	17249	1195	42	3	516	3	WARS	14	100809636	Nonsense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	26381397	100809636	6539904	51	18293											
C14orf79	122616	genome.wustl.edu	37	14	105457851	105457851	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr14:105457851G>T	ENST00000547315.1	+	3	1232	c.593G>T	c.(592-594)aGa>aTa	p.R198I	C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549240.1_5'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	198										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			AAACTCTGGAGAGCCCTTCAG	0.522																																																0			14											95	92	93					14																	105457851		1910	4129	6039	104528896	SO:0001583	missense	122616				CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.593G>T	14.37:g.105457851G>T	ENSP00000450114:p.Arg198Ile		104528896	B2RPK9|Q9BTP4	Missense_Mutation	SNP	ENST00000547315.1	37	CCDS42000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.41|14.41	2.527907|2.527907	0.44969|0.44969	.|.	.|.	ENSG00000140104|ENSG00000140104	ENST00000551606|ENST00000547315	.|.	.|.	.|.	3.79|3.79	2.87|2.87	0.33458|0.33458	.|.	.|0.151830	.|0.29631	.|N	.|0.011601	.|T	.|0.69637	.|0.3133	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.70935	.|0.971	.|T	.|0.69548	.|-0.5116	.|9	.|0.87932	.|D	.|0	-1.8403|-1.8403	9.1773|9.1773	0.37120|0.37120	0.0:0.2243:0.7757:0.0|0.0:0.2243:0.7757:0.0	.|.	.|198	.|Q96F83	.|CN079_HUMAN	X|I	92|198	.|.	.|ENSP00000450114:R198I	E|R	+|+	1|2	0|0	C14orf79|C14orf79	104528896|104528896	0.999000|0.999000	0.42202|0.42202	0.846000|0.846000	0.33378|0.33378	0.415000|0.415000	0.31203|0.31203	2.015000|2.015000	0.40961|0.40961	0.561000|0.561000	0.29186|0.29186	0.586000|0.586000	0.80456|0.80456	GAG|AGA		0.522	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		T	105457851	G	T	105457851	3	4	339	1	0	0	0	0	1	0	0	0	1780	942	33	3	603	3	C14orf79	14	105457851	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09	4648215	105457851	1891689	52	18294											
ZNF592	9640	genome.wustl.edu	37	15	85341676	85341676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr15:85341676C>T	ENST00000560079.2	+	7	2995	c.2707C>T	c.(2707-2709)Cag>Tag	p.Q903*	ZNF592_ENST00000299927.3_Nonsense_Mutation_p.Q903*	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	903					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTGTTCGTGCAGAAGCCGGA	0.572																																																0			15											65	54	58					15																	85341676		2203	4299	6502	83142680	SO:0001587	stop_gained	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2707C>T	15.37:g.85341676C>T	ENSP00000452877:p.Gln903*		83142680	Q2M1T2|Q504Y9	Nonsense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	39	7.758149	0.98474	.	.	ENSG00000166716	ENST00000299927	.	.	.	5.65	5.65	0.86999	.	0.056951	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.5235	17.2346	0.86995	0.0:1.0:0.0:0.0	.	.	.	.	X	903	.	ENSP00000299927:Q903X	Q	+	1	0	ZNF592	83142680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.829000	0.62737	2.671000	0.90904	0.650000	0.86243	CAG		0.572	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		T	85341676	C	T	85341676	4	4	339	1	0	0	0	0	0	1	0	0	18022	711	25	2	2721	2	ZNF592	15	85341676	Nonsense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09		85341676	17189716	53	18295											
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	17	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	7518937	SO:0001587	stop_gained	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		7518937	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578212	G	A	7578212	4	1	339	1	0	0	0	0	0	1	0	0	16381	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09		7578212	73616998	54	18296											
DNAH2	146754	genome.wustl.edu	37	17	7623126	7623126	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr17:7623126C>T	ENST00000572933.1	+	2	1534	c.74C>T	c.(73-75)gCc>gTc	p.A25V	DNAH2_ENST00000082259.3_Missense_Mutation_p.A25V|DNAH2_ENST00000389173.2_Missense_Mutation_p.A25V|DNAH2_ENST00000570791.1_Missense_Mutation_p.A25V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	25	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAGGGCGGGCCACTCGGGCT	0.622																																																0			17											24	24	24					17																	7623126		2202	4298	6500	7563851	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.74C>T	17.37:g.7623126C>T	ENSP00000458355:p.Ala25Val		7563851	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829537	0.32329	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.41400	1.0;1.0	4.33	-8.04	0.01110	.	11.847000	0.00357	N	0.000025	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.10450	0.0;0.005	T	0.08868	-1.0701	10	0.39692	T	0.17	.	0.9456	0.01365	0.2318:0.1852:0.343:0.2399	.	25;25	Q9P225;Q9P225-3	DYH2_HUMAN;.	V	25	ENSP00000373825:A25V;ENSP00000082259:A25V	ENSP00000082259:A25V	A	+	2	0	DNAH2	7563851	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.255000	0.00538	-1.096000	0.03046	-1.108000	0.02087	GCC		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7623126	C	T	7623126	3	4	339	1	0	0	0	0	1	0	0	0	4602	739	26	2	76	2	DNAH2	17	7623126	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	44914	7623126	73572084	55	18297											
ZNF552	79818	genome.wustl.edu	37	19	58319667	58319667	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr19:58319667C>G	ENST00000391701.1	-	3	1134	c.965G>C	c.(964-966)aGg>aCg	p.R322T	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTCATATGGCCTTTCTCCAGT	0.443																																																0			19											93	86	89					19																	58319667		2203	4300	6503	63011479	SO:0001583	missense	79818			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.965G>C	19.37:g.58319667C>G	ENSP00000375582:p.Arg322Thr		63011479	B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928600	0.52759	.	.	ENSG00000178935	ENST00000391701	T	0.17854	2.25	1.74	-2.43	0.06522	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31670	0.0804	M	0.73372	2.23	0.25182	N	0.990195	P;D	0.60575	0.761;0.988	B;D	0.64877	0.419;0.93	T	0.16541	-1.0399	9	0.87932	D	0	.	6.2029	0.20585	0.0:0.3052:0.0:0.6948	.	318;322	B7Z1H1;Q9H707	.;ZN552_HUMAN	T	322	ENSP00000375582:R322T	ENSP00000375582:R322T	R	-	2	0	ZNF552	63011479	0.005000	0.15991	0.121000	0.21740	0.516000	0.34256	0.050000	0.14120	-0.391000	0.07763	0.205000	0.17691	AGG		0.443	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		G	58319667	C	G	58319667	3	3	339	1	0	0	0	0	1	0	0	0	17984	681	24	3	262	3	ZNF552	19	58319667	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09		58319667	809316	56	18298											
ZNF418	147686	genome.wustl.edu	37	19	58439072	58439072	+	Silent	SNP	A	A	T			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chr19:58439072A>T	ENST00000396147.1	-	4	768	c.477T>A	c.(475-477)tcT>tcA	p.S159S	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000595830.1_Silent_p.S159S|ZNF418_ENST00000599852.1_Silent_p.S74S|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.S180S	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GAATGAAGATAGATGACTCCT	0.478																																																0			19											124	128	127					19																	58439072		2188	4294	6482	63130884	SO:0001819	synonymous_variant	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.477T>A	19.37:g.58439072A>T			63130884	Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	CCDS42642.1																																																																																				0.478	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		T	58439072	A	T	58439072	2	4	339	1	0	0	0	0	0	0	0	1	17895	407	15	5		5	ZNF418	19	58439072	Silent	SNP	A	TCGA-29-1762-01A-01W-0633-09	119405	58439072	689911	57	18299											
IL1RAPL1	11141	genome.wustl.edu	37	X	29935617	29935617	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chrX:29935617G>C	ENST00000378993.1	+	7	1488	c.815G>C	c.(814-816)gGg>gCg	p.G272A	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G272A	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	272	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCTTTCTTTGGGTACAGCGGA	0.368																																																0			X											56	52	53					X																	29935617		2202	4300	6502	29845538	SO:0001583	missense	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.815G>C	X.37:g.29935617G>C	ENSP00000368278:p.Gly272Ala		29845538	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441642	0.83993	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.05786	3.39;3.39	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00385	-1.1773	9	.	.	.	.	19.371	0.94484	0.0:0.0:1.0:0.0	.	272	Q9NZN1	IRPL1_HUMAN	A	272	ENSP00000368278:G272A;ENSP00000305200:G272A	.	G	+	2	0	IL1RAPL1	29845538	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.431000	0.97494	2.527000	0.85204	0.600000	0.82982	GGG		0.368	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		C	29935617	G	C	29935617	3	2	339	1	0	0	0	0	1	0	0	0	7661	1232	43	3	837	3	IL1RAPL1	23	29935617	Missense_Mutation	SNP	G	TCGA-29-1762-01A-01W-0633-09		29935617	125334943	58	18300											
DMD	1756	genome.wustl.edu	37	X	32536137	32536137	+	Silent	SNP	T	T	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chrX:32536137T>C	ENST00000357033.4	-	18	2486	c.2280A>G	c.(2278-2280)aaA>aaG	p.K760K	DMD_ENST00000288447.4_Silent_p.K752K|DMD_ENST00000378677.2_Silent_p.K756K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	760					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGACTTTTTCTTTTAAGTCTG	0.368																																																0			X											67	61	63					X																	32536137		2202	4300	6502	32446058	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2280A>G	X.37:g.32536137T>C			32446058	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																				0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	32536137	T	C	32536137	2	2	339	1	0	0	0	0	0	0	0	1	4580	1606	56	4		4	DMD	23	32536137	Silent	SNP	T	TCGA-29-1762-01A-01W-0633-09	2600520	32536137	122734423	59	18301											
CXorf22	170063	genome.wustl.edu	37	X	35985745	35985745	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chrX:35985745C>A	ENST00000297866.5	+	10	1676	c.1610C>A	c.(1609-1611)cCt>cAt	p.P537H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	537										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGTATATTGCCTTCGATCCGT	0.333																																																0			X											78	68	72					X																	35985745		2202	4299	6501	35895666	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1610C>A	X.37:g.35985745C>A	ENSP00000297866:p.Pro537His		35895666	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390804	0.25118	.	.	ENSG00000165164	ENST00000297866	T	0.37411	1.2	4.89	4.03	0.46877	.	0.058966	0.64402	D	0.000002	T	0.56834	0.2012	M	0.75264	2.295	0.25126	N	0.990605	D	0.89917	1.0	D	0.79784	0.993	T	0.50964	-0.8765	10	0.59425	D	0.04	-8.4957	10.5122	0.44868	0.0:0.9011:0.0:0.0989	.	537	Q6ZTR5	CX022_HUMAN	H	537	ENSP00000297866:P537H	ENSP00000297866:P537H	P	+	2	0	CXorf22	35895666	0.981000	0.34729	0.291000	0.24904	0.005000	0.04900	4.666000	0.61554	0.976000	0.38417	0.513000	0.50165	CCT		0.333	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35985745	C	A	35985745	3	1	339	1	0	0	0	0	1	0	0	0	4102	681	24	3	1648	3	CXorf22	23	35985745	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	3449608	35985745	119284815	60	18302											
CHRDL1	91851	genome.wustl.edu	37	X	109931919	109931919	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chrX:109931919C>G	ENST00000372045.1	-	9	1001	c.870G>C	c.(868-870)gaG>gaC	p.E290D	CHRDL1_ENST00000218054.4_Missense_Mutation_p.E296D|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E297D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.E217D|CHRDL1_ENST00000394797.4_Missense_Mutation_p.E296D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E217D|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E296D			Q9BU40	CRDL1_HUMAN	chordin-like 1	290	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTTTCTTACACTCTTGCTTGG	0.463																																																0			X											198	179	185					X																	109931919		2203	4300	6503	109818575	SO:0001583	missense	91851			AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.870G>C	X.37:g.109931919C>G	ENSP00000361115:p.Glu290Asp		109818575	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37		.	.	.	.	.	.	.	.	.	.	c	7.985	0.752079	0.15778	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.02	4.14	0.48551	von Willebrand factor, type C (4);	0.052608	0.85682	D	0.000000	T	0.65637	0.2710	N	0.10945	0.07	0.46061	D	0.99884	D;D;D;D;D;P	0.69078	0.995;0.997;0.992;0.992;0.997;0.573	D;D;D;D;D;P	0.80764	0.994;0.992;0.989;0.989;0.992;0.599	T	0.63216	-0.6687	9	.	.	.	-18.5962	8.0123	0.30361	0.0:0.6641:0.0:0.3359	.	217;296;276;290;297;217	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	D	290;217;296;296;297;217;296	ENSP00000361115:E290D;ENSP00000389627:E217D;ENSP00000218054:E296D;ENSP00000378276:E296D;ENSP00000361112:E297D;ENSP00000418443:E217D;ENSP00000399739:E296D	.	E	-	3	2	CHRDL1	109818575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.033000	0.30191	1.170000	0.42753	0.597000	0.82753	GAG		0.463	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		G	109931919	C	G	109931919	3	3	339	1	0	0	0	0	1	0	0	0	3373	564	20	3	501	3	CHRDL1	23	109931919	Missense_Mutation	SNP	C	TCGA-29-1762-01A-01W-0633-09	73946174	109931919	45338641	61	18303											
LRCH2	57631	genome.wustl.edu	37	X	114404879	114404879	+	Silent	SNP	T	T	C			TCGA-29-1762-01A-01W-0633-09	TCGA-29-1762-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a0f76764-35a0-43d3-aeb4-70e9a37830e8	39d64d91-ce06-4d19-a16b-f02329a5b4af	g.chrX:114404879T>C	ENST00000317135.8	-	6	1011	c.981A>G	c.(979-981)tcA>tcG	p.S327S	LRCH2_ENST00000538422.1_Silent_p.S327S	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	327										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TGAGAGGCTGTGAGGGCATTC	0.358																																																0			X											99	90	93					X																	114404879		1894	4103	5997	114311135	SO:0001819	synonymous_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.981A>G	X.37:g.114404879T>C			114311135	F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	ENST00000317135.8	37	CCDS48155.1																																																																																				0.358	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		C	114404879	T	C	114404879	2	2	339	1	0	0	0	0	0	0	0	1	8933	1683	59	4		4	LRCH2	23	114404879	Silent	SNP	T	TCGA-29-1762-01A-01W-0633-09	4472960	114404879	40865681	62	18304											
ICMT	23463	genome.wustl.edu	37	1	6293635	6293635	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:6293635C>A	ENST00000343813.5	-	3	381	c.353G>T	c.(352-354)aGt>aTt	p.S118I	LINC00337_ENST00000441724.1_RNA	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	118					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGGACAGACTTTTGGGATT	0.403																																																0			1											101	100	101					1																	6293635		2203	4300	6503	6216222	SO:0001583	missense	23463			AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"protein-S-isoprenylcysteine O-methyltransferase"	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.353G>T	1.37:g.6293635C>A	ENSP00000343552:p.Ser118Ile		6216222	Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	CCDS61.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203829	0.79127	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.68317	2.08	0.80722	D	1	P	0.39424	0.673	P	0.45195	0.473	T	0.71115	-0.4686	9	0.56958	D	0.05	.	18.9014	0.92444	0.0:1.0:0.0:0.0	.	118	O60725	ICMT_HUMAN	I	118;22	.	ENSP00000343552:S118I	S	-	2	0	ICMT	6216222	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.604000	0.82830	2.721000	0.93114	0.655000	0.94253	AGT		0.403	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		A	6293635	C	A	6293635	3	1	340	1	0	0	0	0	1	0	0	0	7485	565	20	3	513	3	ICMT	1	6293635	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09		6293635	242956986	1	18305											
TNFRSF8	943	genome.wustl.edu	37	1	12175722	12175722	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:12175722C>A	ENST00000263932.2	+	8	1104	c.882C>A	c.(880-882)acC>acA	p.T294T	TNFRSF8_ENST00000417814.2_Silent_p.T183T	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	294					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CATCAGCCACCAACTCCCGTG	0.602																																																0			1											155	114	128					1																	12175722		2203	4300	6503	12098309	SO:0001819	synonymous_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.882C>A	1.37:g.12175722C>A			12098309	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	CCDS144.1																																																																																				0.602	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			A	12175722	C	A	12175722	2	1	340	1	0	0	0	0	0	0	0	1	16299	581	21	3		3	TNFRSF8	1	12175722	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	5882087	12175722	237074899	2	18306											
RAP1GAP	5909	genome.wustl.edu	37	1	21944445	21944445	+	Silent	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:21944445T>G	ENST00000374765.4	-	6	287	c.87A>C	c.(85-87)ccA>ccC	p.P29P	RAP1GAP_ENST00000374763.2_Silent_p.P29P|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374761.2_Silent_p.P60P|RAP1GAP_ENST00000290101.4_Silent_p.P93P|RAP1GAP_ENST00000542643.2_Silent_p.P29P	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	29					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CGCTCGGGTATGGAATGTAGT	0.592																																																0			1											176	153	161					1																	21944445		2203	4300	6503	21817032	SO:0001819	synonymous_variant	5909			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.87A>C	1.37:g.21944445T>G			21817032	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	CCDS218.1																																																																																				0.592	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		G	21944445	T	G	21944445	2	3	340	1	0	0	0	0	0	0	0	1	13040	1451	51	5		5	RAP1GAP	1	21944445	Silent	SNP	T	TCGA-29-1763-01A-02W-0633-09	9768723	21944445	227306176	3	18307											
TCEB3	6924	genome.wustl.edu	37	1	24077343	24077343	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:24077343A>G	ENST00000418390.2	+	4	597	c.326A>G	c.(325-327)gAg>gGg	p.E109G	TCEB3_ENST00000609199.1_Missense_Mutation_p.E83G|TCEB3_ENST00000487554.1_3'UTR	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	109					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGAAATGCTGAGCCTGATGAA	0.463																																																0			1											27	29	28					1																	24077343		2202	4300	6502	23949930	SO:0001583	missense	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.326A>G	1.37:g.24077343A>G	ENSP00000395574:p.Glu109Gly		23949930	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	CCDS239.2	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235558	0.39498	.	.	ENSG00000011007	ENST00000418390	T	0.09255	3.0	5.43	5.43	0.79202	Transcription factor IIS, N-terminal (2);	0.408346	0.23492	N	0.047589	T	0.11750	0.0286	L	0.43152	1.355	0.39049	D	0.960289	B	0.17852	0.024	B	0.13407	0.009	T	0.10042	-1.0647	10	0.26408	T	0.33	-19.0789	15.6414	0.77006	1.0:0.0:0.0:0.0	.	109	Q14241	ELOA1_HUMAN	G	109	ENSP00000395574:E109G	ENSP00000395574:E109G	E	+	2	0	TCEB3	23949930	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	6.178000	0.71968	2.279000	0.76181	0.533000	0.62120	GAG		0.463	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		G	24077343	A	G	24077343	3	3	340	1	0	0	0	0	1	0	0	0	15681	304	11	4	340	4	TCEB3	1	24077343	Missense_Mutation	SNP	A	TCGA-29-1763-01A-02W-0633-09	2132898	24077343	225173278	4	18308											
YARS	8565	genome.wustl.edu	37	1	33251997	33251997	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:33251997G>T	ENST00000373477.4	-	8	1780	c.872C>A	c.(871-873)gCt>gAt	p.A291D		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	291					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GTCCACGTAAGCTGTGTAGGT	0.393																																																0			1											198	157	171					1																	33251997		2203	4300	6503	33024584	SO:0001583	missense	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.872C>A	1.37:g.33251997G>T	ENSP00000362576:p.Ala291Asp		33024584	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	6.566	0.472798	0.12461	.	.	ENSG00000134684	ENST00000373477	T	0.71103	-0.54	4.92	-0.258	0.12975	.	0.534990	0.21723	N	0.070083	T	0.26521	0.0648	N	0.00436	-1.5	0.30079	N	0.809352	B	0.06786	0.001	B	0.04013	0.001	T	0.31558	-0.9939	10	0.11485	T	0.65	-0.446	3.9763	0.09476	0.2925:0.0:0.3554:0.3521	.	291	P54577	SYYC_HUMAN	D	291	ENSP00000362576:A291D	ENSP00000362576:A291D	A	-	2	0	YARS	33024584	0.000000	0.05858	0.928000	0.36995	0.846000	0.48090	-0.155000	0.10115	0.047000	0.15862	-0.444000	0.05651	GCT		0.393	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		T	33251997	G	T	33251997	3	4	340	1	0	0	0	0	1	0	0	0	17467	971	34	3	738	3	YARS	1	33251997	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	9174654	33251997	215998624	5	18309											
DNALI1	7802	genome.wustl.edu	37	1	38027204	38027204	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:38027204G>A	ENST00000296218.7	+	4	520	c.510G>A	c.(508-510)ctG>ctA	p.L170L	DNALI1_ENST00000497858.1_3'UTR|DNALI1_ENST00000541606.1_Silent_p.L22L	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	148					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAGGGGGCTGCTGCTGCTGC	0.612											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											93	80	84					1																	38027204		2203	4300	6503	37799791	SO:0001819	synonymous_variant	7802			AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.510G>A	1.37:g.38027204G>A		875	37799791	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Silent	SNP	ENST00000296218.7	37	CCDS420.1																																																																																				0.612	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		A	38027204	G	A	38027204	2	1	340	1	0	0	0	0	0	0	0	1	4659	1306	46	2		2	DNALI1	1	38027204	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	4775207	38027204	211223417	6	18310											
MKNK1	8569	genome.wustl.edu	37	1	47034135	47034135	+	Silent	SNP	A	A	G	rs201471887		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:47034135A>G	ENST00000371946.4	-	9	815	c.652T>C	c.(652-654)Ttg>Ctg	p.L218L	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Silent_p.L82L|MKNK1_ENST00000428112.2_Silent_p.L177L|MKNK1_ENST00000371945.4_Silent_p.L177L|MKNK1_ENST00000341183.5_Silent_p.L177L	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GATTCACACAATATATTTTCT	0.378																																																0			1											113	107	109					1																	47034135		2203	4300	6503	46806722	SO:0001819	synonymous_variant	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.652T>C	1.37:g.47034135A>G			46806722	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	ENST00000371946.4	37	CCDS538.1																																																																																				0.378	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		G	47034135	A	G	47034135	2	3	340	1	0	0	0	0	0	0	0	1	9604	98	4	4		4	MKNK1	1	47034135	Silent	SNP	A	TCGA-29-1763-01A-02W-0633-09	9006931	47034135	202216486	7	18311											
DIRAS3	9077	genome.wustl.edu	37	1	68512922	68512922	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:68512922A>T	ENST00000370981.1	-	4	695	c.59T>A	c.(58-60)cTg>cAg	p.L20Q	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.L20Q|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	20					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGGGCGGGCAGAAGCCGCAA	0.592																																																0			1											26	30	29					1																	68512922		2181	4270	6451	68285510	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.59T>A	1.37:g.68512922A>T	ENSP00000360020:p.Leu20Gln		68285510	B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	CCDS641.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.941535	0.34283	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.73897	-0.79;-0.79	4.15	-0.729	0.11158	.	.	.	.	.	T	0.53690	0.1812	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.55055	0.767	T	0.46762	-0.9168	9	0.87932	D	0	.	6.9754	0.24672	0.5444:0.0:0.4556:0.0	.	20	O95661	DIRA3_HUMAN	Q	20	ENSP00000360020:L20Q;ENSP00000378627:L20Q	ENSP00000360020:L20Q	L	-	2	0	DIRAS3	68285510	0.003000	0.15002	0.006000	0.13384	0.073000	0.16967	0.235000	0.17948	0.069000	0.16605	0.383000	0.25322	CTG		0.592	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		T	68512922	A	T	68512922	3	4	340	1	0	0	0	0	1	0	0	0	4532	188	7	5	634	5	DIRAS3	1	68512922	Missense_Mutation	SNP	A	TCGA-29-1763-01A-02W-0633-09	21478787	68512922	180737699	8	18312											
OLFM3	118427	genome.wustl.edu	37	1	102462358	102462358	+	Silent	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:102462358G>C	ENST00000370103.4	-	1	228	c.15C>G	c.(13-15)tcC>tcG	p.S5S	OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	19					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGAGAAGGTTGGACGTCGCCT	0.443																																																0			1											158	160	160					1																	102462358		2203	4300	6503	102234946	SO:0001819	synonymous_variant	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000370103.4:c.15C>G	1.37:g.102462358G>C			102234946	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000370103.4	37	CCDS30781.1																																																																																				0.443	OLFM3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030144.1			C	102462358	G	C	102462358	2	2	340	1	0	0	0	0	0	0	0	1	10854	1335	47	3		3	OLFM3	1	102462358	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	33949436	102462358	146788263	9	18313											
PSMB4	5692	genome.wustl.edu	37	1	151372123	151372123	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:151372123G>C	ENST00000290541.6	+	1	114	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCAGGACAGTTTTACCGCA	0.572																																																0			1											64	66	66					1																	151372123		2203	4300	6503	149638747	SO:0001583	missense	5692			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.60G>C	1.37:g.151372123G>C	ENSP00000290541:p.Gln20His		149638747	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535235	0.27475	.	.	ENSG00000159377	ENST00000290541	T	0.52983	0.64	5.21	3.19	0.36642	.	0.413092	0.27595	N	0.018675	T	0.13457	0.0326	N	0.08118	0	0.42328	D	0.992286	B;B	0.12013	0.005;0.002	B;B	0.11329	0.006;0.003	T	0.04976	-1.0914	10	0.45353	T	0.12	-14.2281	11.2848	0.49216	0.0:0.3574:0.6425:0.0	.	20;20	B4DFL3;P28070	.;PSB4_HUMAN	H	20	ENSP00000290541:Q20H	ENSP00000290541:Q20H	Q	+	3	2	PSMB4	149638747	0.998000	0.40836	1.000000	0.80357	0.384000	0.30261	1.019000	0.30014	1.175000	0.42826	-0.305000	0.09177	CAG		0.572	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		C	151372123	G	C	151372123	3	2	340	1	0	0	0	0	1	0	0	0	12682	1020	36	3	62	3	PSMB4	1	151372123	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	48909765	151372123	97878498	10	18314											
HRNR	388697	genome.wustl.edu	37	1	152193031	152193031	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:152193031G>A	ENST00000368801.2	-	3	1149	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	358					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATAGCCAGAGGACTGTCCTG	0.547																																																0			1											141	139	139					1																	152193031		2203	4300	6503	150459655	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1074C>T	1.37:g.152193031G>A			150459655	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																				0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152193031	G	A	152193031	2	1	340	1	0	0	0	0	0	0	0	1	7359	987	35	2		2	HRNR	1	152193031	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	820908	152193031	97057590	11	18315											
BGLAP	632	genome.wustl.edu	37	1	156212358	156212358	+	Frame_Shift_Del	DEL	G	G	-	rs557201215|rs150202037	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:156212358delG	ENST00000368272.4	+	2	349	c.79delG	c.(79-81)ggtfs	p.G27fs	PMF1_ENST00000565805.1_Frame_Shift_Del_p.R128fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.A193fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.R173fs|PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.R173fs|PAQR6_ENST00000492619.1_5'Flank|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.R128fs	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein	27					bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)			large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	GAAGCCCAGCGGTGCAGAGTC	0.622													GG|GG|G|deletion	12	0.00239617	0.0091	0	5008	,	,		20875	0		0	False		,,,				2504	0															0			1							,,,,	22,4148		2,18,2065	87	90	89		,,,,	-7	0	1		85	2,7996		1,0,3998	no	frameshift,frameshift,frameshift,frameshift,frameshift	BGLAP,PMF1-BGLAP	NM_199173.4,NM_001199664.1,NM_001199663.1,NM_001199662.1,NM_001199661.1	,,,,	3,18,6063	A1A1,A1R,RR		0.025,0.5276,0.1972	,,,,	,,,,	156212358	24,12144	2155	4196	6351	154478982	SO:0001589	frameshift_variant	632			X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"osteocalcin"	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819	ENST00000368272.4:c.79delG	1.37:g.156212358delG	ENSP00000357255:p.Gly27fs		154478982	Q5TCK6	Frame_Shift_Del	DEL	ENST00000368272.4	37	CCDS1134.1																																																																																				0.622	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040867.2	NM_199173		-	156212358	G	-	156212358	7	5	340	1	0	1	0	1	0	0	0	0	1417	1116	39	0	85	0	BGLAP	1	156212358	Frame_Shift_Del	DEL	G	TCGA-29-1763-01A-02W-0633-09	4019327	156212358	93038263	12	18316											
CD1D	912	genome.wustl.edu	37	1	158151290	158151290	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:158151290T>A	ENST00000368171.3	+	3	606	c.107T>A	c.(106-108)tTc>tAc	p.F36Y		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	36					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ATCTCGTCCTTCGCCAATAGC	0.637																																																0			1											154	171	166					1																	158151290		2203	4300	6503	156417914	SO:0001583	missense	912			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.107T>A	1.37:g.158151290T>A	ENSP00000357153:p.Phe36Tyr		156417914	D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.540466	0.65085	.	.	ENSG00000158473	ENST00000368171	T	0.08008	3.14	4.44	3.31	0.37934	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.47852	D	0.000209	T	0.11879	0.0289	M	0.78344	2.41	0.09310	N	1	D	0.76494	0.999	D	0.64687	0.928	T	0.06427	-1.0827	10	0.56958	D	0.05	-18.8484	6.8415	0.23965	0.0:0.1064:0.0:0.8936	.	36	P15813	CD1D_HUMAN	Y	36	ENSP00000357153:F36Y	ENSP00000357153:F36Y	F	+	2	0	CD1D	156417914	0.021000	0.18746	0.009000	0.14445	0.074000	0.17049	1.234000	0.32660	0.831000	0.34780	0.533000	0.62120	TTC		0.637	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		A	158151290	T	A	158151290	3	1	340	1	0	0	0	0	1	0	0	0	2977	1783	62	5	113	5	CD1D	1	158151290	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	1938932	158151290	91099331	13	18317											
OR10R2	343406	genome.wustl.edu	37	1	158450551	158450551	+	Missense_Mutation	SNP	C	C	T	rs142790175		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:158450551C>T	ENST00000368152.1	+	1	884	c.884C>T	c.(883-885)aCg>aTg	p.T295M	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T295M(1)|p.V296fs*16(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGGCTGGTGACGGTGACATAC	0.448													C|||	1	0.000199681	0	0	5008	,	,		16488	0		0.001	False		,,,				2504	0															2	Substitution - Missense(1)|Insertion - Frameshift(1)	lung(1)|pancreas(1)	1						C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	162	137	146		884	2.3	0	1	dbSNP_134	146	8,8592	6.4+/-24.3	0,8,4292	yes	missense	OR10R2	NM_001004472.1	81	0,11,6492	TT,TC,CC		0.093,0.0681,0.0846	probably-damaging	295/336	158450551	11,12995	2203	4300	6503	156717175	SO:0001583	missense	343406			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.884C>T	1.37:g.158450551C>T	ENSP00000357134:p.Thr295Met		156717175	Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	CCDS30898.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	7.604	0.673384	0.14776	6.81E-4	9.3E-4	ENSG00000198965	ENST00000368152	T	0.00174	8.62	4.2	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	M	0.85373	2.75	0.09310	N	1	P	0.47484	0.896	B	0.42163	0.378	T	0.07158	-1.0787	9	0.87932	D	0	.	9.6498	0.39890	0.0:0.823:0.0:0.177	.	295	Q8NGX6	O10R2_HUMAN	M	295	ENSP00000357134:T295M	ENSP00000357134:T295M	T	+	2	0	OR10R2	156717175	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	0.526000	0.22971	0.402000	0.25451	0.655000	0.94253	ACG		0.448	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		T	158450551	C	T	158450551	3	4	340	1	0	0	0	0	1	0	0	0	10917	536	19	1	886	1	OR10R2	1	158450551	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	299261	158450551	90800070	14	18318											
SPTA1	6708	genome.wustl.edu	37	1	158609712	158609712	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:158609712C>G	ENST00000368147.4	-	34	5003	c.4823G>C	c.(4822-4824)cGt>cCt	p.R1608P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1608					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCTGTTGACGACTGGCCTC	0.463																																																0			1											200	184	189					1																	158609712		1922	4121	6043	156876336	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4823G>C	1.37:g.158609712C>G	ENSP00000357129:p.Arg1608Pro		156876336	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350975	0.82132	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36520	1.25;1.25	5.53	5.53	0.82687	.	0.000000	0.32134	N	0.006521	T	0.45316	0.1336	M	0.68952	2.095	0.41430	D	0.987856	D	0.71674	0.998	D	0.71656	0.974	T	0.48854	-0.8998	10	0.72032	D	0.01	.	8.2512	0.31724	0.0:0.8418:0.0:0.1582	.	1608	P02549	SPTA1_HUMAN	P	1608	ENSP00000357130:R1608P;ENSP00000357129:R1608P	ENSP00000357129:R1608P	R	-	2	0	SPTA1	156876336	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.475000	0.66787	2.882000	0.98803	0.655000	0.94253	CGT		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158609712	C	G	158609712	3	3	340	1	0	0	0	0	1	0	0	0	15118	536	19	3	2512	3	SPTA1	1	158609712	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	159161	158609712	90640909	15	18319											
RGS16	6004	genome.wustl.edu	37	1	182569475	182569475	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:182569475G>A	ENST00000367558.5	-	5	709	c.561C>T	c.(559-561)gcC>gcT	p.A187A		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	187					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GAGTGGCAGAGGCGGCTGAGG	0.632																																																0			1											74	75	75					1																	182569475		2201	4296	6497	180836098	SO:0001819	synonymous_variant	6004			U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"Regulators of G-protein signaling"	9997	protein-coding gene	gene with protein product		602514	"regulator of G-protein signalling 16"			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.561C>T	1.37:g.182569475G>A			180836098	B2R4M4|Q5VYN9|Q99701	Silent	SNP	ENST00000367558.5	37	CCDS1348.1																																																																																				0.632	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		A	182569475	G	A	182569475	2	1	340	1	0	0	0	0	0	0	0	1	13301	987	35	2		2	RGS16	1	182569475	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	23959763	182569475	66681146	16	18320											
ATP2B4	493	genome.wustl.edu	37	1	203689687	203689697	+	Frame_Shift_Del	DEL	GCACAGATGTA	GCACAGATGTA	-			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	GCACAGATGTA	GCACAGATGTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:203689687_203689697delGCACAGATGTA	ENST00000357681.5	+	16	3540_3550	c.2417_2427delGCACAGATGTA	c.(2416-2427)ggcacagatgtafs	p.GTDV806fs	ATP2B4_ENST00000341360.2_Frame_Shift_Del_p.GTDV806fs|ATP2B4_ENST00000367218.3_Frame_Shift_Del_p.GTDV806fs|ATP2B4_ENST00000367219.3_Frame_Shift_Del_p.GTDV794fs|ATP2B4_ENST00000391954.2_Frame_Shift_Del_p.GTDV806fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	806					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCATCGCAGGCACAGATGTAGCAAAGGAGG	0.502																																																0			1																																								201956320	SO:0001589	frameshift_variant	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2417_2427delGCACAGATGTA	1.37:g.203689687_203689697delGCACAGATGTA	ENSP00000350310:p.Gly806fs		201956310	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Del	DEL	ENST00000357681.5	37	CCDS1440.1																																																																																				0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		-	203689697	GCACAGATGTA	-	203689687	7	5	340	1	0	1	0	1	0	0	0	0	1142	1203	42	0	2475	0	ATP2B4	1	203689687	Frame_Shift_Del	DEL	GCACAGATGTA	TCGA-29-1763-01A-02W-0633-09	21120212	203689687	45560934	17	18321											
SUSD4	55061	genome.wustl.edu	37	1	223402669	223402669	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:223402669C>A	ENST00000343846.3	-	5	1419	c.786G>T	c.(784-786)gaG>gaT	p.E262D	SUSD4_ENST00000484758.2_Missense_Mutation_p.E193D|SUSD4_ENST00000454695.2_Missense_Mutation_p.E102D|SUSD4_ENST00000494793.2_Missense_Mutation_p.E262D|SUSD4_ENST00000366878.4_Missense_Mutation_p.E262D|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	262	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTTGTAGCGCTCACAAGGCC	0.527																																																0			1											79	88	85					1																	223402669		2120	4248	6368	221469292	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.786G>T	1.37:g.223402669C>A	ENSP00000344219:p.Glu262Asp		221469292	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	6.875	0.530930	0.13127	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.64260	-0.09;-0.09;-0.09	5.61	-0.191	0.13252	Complement control module (2);Sushi/SCR/CCP (3);	0.426877	0.19943	N	0.102615	T	0.29976	0.0750	N	0.04297	-0.235	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04229	-1.0967	10	0.13470	T	0.59	-14.5122	5.6069	0.17385	0.1681:0.5485:0.1634:0.1199	.	262	Q5VX71	SUSD4_HUMAN	D	262;262;193;102	ENSP00000344219:E262D;ENSP00000355843:E262D;ENSP00000399288:E102D	ENSP00000344219:E262D	E	-	3	2	SUSD4	221469292	0.969000	0.33509	0.980000	0.43619	0.958000	0.62258	-0.029000	0.12329	-0.150000	0.11195	-0.797000	0.03246	GAG		0.527	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		A	223402669	C	A	223402669	3	1	340	1	0	0	0	0	1	0	0	0	15410	796	28	3	702	3	SUSD4	1	223402669	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	19712982	223402669	25847952	18	18322											
THUMPD2	80745	genome.wustl.edu	37	2	39993224	39993224	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:39993224T>C	ENST00000505747.1	-	5	803	c.776A>G	c.(775-777)tAc>tGc	p.Y259C	THUMPD2_ENST00000454352.2_3'UTR|THUMPD2_ENST00000403537.3_5'Flank|THUMPD2_ENST00000260619.6_Missense_Mutation_p.Y229C	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	259	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CACCACAGAGTAAATGTCATT	0.328																																																0			2											106	108	107					2																	39993224		2203	4300	6503	39846728	SO:0001583	missense	80745			AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"chromosome 2 open reading frame 8"	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.776A>G	2.37:g.39993224T>C	ENSP00000423933:p.Tyr259Cys		39846728	A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592163	0.66219	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.39	5.39	0.77823	THUMP (2);	0.120557	0.64402	D	0.000020	T	0.76147	0.3947	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.98;0.992	T	0.76892	-0.2791	8	.	.	.	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	150;259	B4DP37;Q9BTF0	.;THUM2_HUMAN	C	259;229	.	.	Y	-	2	0	THUMPD2	39846728	1.000000	0.71417	0.995000	0.50966	0.946000	0.59487	5.169000	0.64984	2.168000	0.68352	0.455000	0.32223	TAC		0.328	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		C	39993224	T	C	39993224	3	2	340	1	0	0	0	0	1	0	0	0	15883	1638	57	4	759	4	THUMPD2	2	39993224	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09		39993224	203206149	19	18323											
PSD4	23550	genome.wustl.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:113940279C>T	ENST00000245796.6	+	2	441	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000441564.3_Silent_p.D82D|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622																																																0			2						T		1,4405	2.1+/-5.4	0,1,2202	51	52	52		246	-1.1	0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD4	NM_012455.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		82/1057	113940279	2,13004	2203	4300	6503	113656750	SO:0001819	synonymous_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.246C>T	2.37:g.113940279C>T			113656750	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																				0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113940279	C	T	113940279	2	4	340	1	0	0	0	0	0	0	0	1	12652	535	19	1		1	PSD4	2	113940279	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	73947055	113940279	129259094	20	18324											
COL5A2	1290	genome.wustl.edu	37	2	189921706	189921706	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:189921706C>T	ENST00000374866.3	-	35	2658	c.2384G>A	c.(2383-2385)gGt>gAt	p.G795D		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	795					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACTCTTGCACCATCATTTCC	0.398																																																0			2											203	191	195					2																	189921706		2203	4300	6503	189629951	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2384G>A	2.37:g.189921706C>T	ENSP00000364000:p.Gly795Asp		189629951	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314032	0.81358	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	5.87	5.87	0.94306	.	0.000000	0.53938	D	0.000059	D	0.99832	0.9924	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.985	D	0.96936	0.9684	9	.	.	.	.	20.2147	0.98293	0.0:1.0:0.0:0.0	.	435;795	Q5PR22;P05997	.;CO5A2_HUMAN	D	795;435	ENSP00000364000:G795D	.	G	-	2	0	COL5A2	189629951	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.797000	0.85911	2.785000	0.95823	0.591000	0.81541	GGT		0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		T	189921706	C	T	189921706	3	4	340	1	0	0	0	0	1	0	0	0	3697	507	18	2	2195	2	COL5A2	2	189921706	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	75981427	189921706	53277667	21	18325											
PTH2R	5746	genome.wustl.edu	37	2	209358261	209358261	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:209358261C>A	ENST00000272847.2	+	13	1743	c.1530C>A	c.(1528-1530)caC>caA	p.H510Q	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	510					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	ACTCTTTCCACGAGGAGACCA	0.522																																																0			2											83	76	78					2																	209358261		2203	4300	6503	209066506	SO:0001583	missense	5746			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1530C>A	2.37:g.209358261C>A	ENSP00000272847:p.His510Gln		209066506	Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.394543	0.01175	.	.	ENSG00000144407	ENST00000272847	T	0.49720	0.77	5.31	-10.6	0.00265	.	0.444949	0.16405	N	0.215850	T	0.20414	0.0491	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.44452	-0.9327	9	.	.	.	.	6.0706	0.19887	0.2156:0.464:0.211:0.1094	.	399;510	B4DFN8;P49190	.;PTH2R_HUMAN	Q	510	ENSP00000272847:H510Q	.	H	+	3	2	PTH2R	209066506	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.564000	0.00061	-6.152000	0.00006	-1.937000	0.00501	CAC		0.522	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		A	209358261	C	A	209358261	3	1	340	1	0	0	0	0	1	0	0	0	12763	535	19	3	1580	3	PTH2R	2	209358261	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	19436555	209358261	33841112	22	18326											
STK36	27148	genome.wustl.edu	37	2	219561857	219561857	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:219561857G>C	ENST00000295709.3	+	23	2961	c.2682G>C	c.(2680-2682)gaG>gaC	p.E894D	STK36_ENST00000440309.1_Missense_Mutation_p.E894D|STK36_ENST00000392105.3_Missense_Mutation_p.E873D|STK36_ENST00000392106.2_Missense_Mutation_p.E873D	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCCCCGAGGAGGCATCTGCAC	0.542																																																0			2											134	141	138					2																	219561857		2203	4300	6503	219270101	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2682G>C	2.37:g.219561857G>C	ENSP00000295709:p.Glu894Asp		219270101		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.76|13.76	2.332896|2.332896	0.41297|0.41297	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309|ENST00000431040	T;T;T;T|.	0.71817|.	-0.59;-0.6;-0.6;-0.59|.	5.12|5.12	3.29|3.29	0.37713|0.37713	.|.	0.000000|.	0.42821|.	D|.	0.000650|.	T|T	0.23133|0.23133	0.0559|0.0559	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;B|.	0.37955|.	0.612;0.477;0.346|.	B;B;B|.	0.36134|.	0.185;0.218;0.109|.	T|T	0.15578|0.15578	-1.0432|-1.0432	10|5	0.26408|.	T|.	0.33|.	-7.3731|-7.3731	4.2967|4.2967	0.10904|0.10904	0.2447:0.0:0.5913:0.164|0.2447:0.0:0.5913:0.164	.|.	873;873;894|.	A8MU99;Q9NRP7-2;Q9NRP7|.	.;.;STK36_HUMAN|.	D|T	894;873;873;894|87	ENSP00000295709:E894D;ENSP00000375955:E873D;ENSP00000375954:E873D;ENSP00000394095:E894D|.	ENSP00000295709:E894D|.	E|R	+|+	3|2	2|0	STK36|STK36	219270101|219270101	0.000000|0.000000	0.05858|0.05858	0.952000|0.952000	0.39060|0.39060	0.831000|0.831000	0.47069|0.47069	-0.579000|-0.579000	0.05834|0.05834	1.378000|1.378000	0.46305|0.46305	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.542	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			C	219561857	G	C	219561857	3	2	340	1	0	0	0	0	1	0	0	0	15304	991	35	3	2768	3	STK36	2	219561857	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	10203596	219561857	23637516	23	18327											
GIGYF2	26058	genome.wustl.edu	37	2	233655523	233655523	+	Silent	SNP	G	G	C	rs368592394		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:233655523G>C	ENST00000409547.1	+	12	1139	c.828G>C	c.(826-828)ggG>ggC	p.G276G	GIGYF2_ENST00000409451.3_Silent_p.G298G|GIGYF2_ENST00000452341.2_Silent_p.G107G|GIGYF2_ENST00000409196.3_Silent_p.G270G|GIGYF2_ENST00000373563.4_Silent_p.G276G|GIGYF2_ENST00000373566.3_Silent_p.G298G|GIGYF2_ENST00000409480.1_Silent_p.G298G	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	276					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGGCAGTGGGAGCATAGATG	0.493																																																0			2						G	,,,	0,4406		0,0,2203	162	162	162		828,894,810,828	-6.5	1	2		162	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GIGYF2	NM_001103146.1,NM_001103147.1,NM_001103148.1,NM_015575.3	,,,	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	,,,	276/1300,298/1321,270/1294,276/1300	233655523	2,13004	2203	4300	6503	233363767	SO:0001819	synonymous_variant	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.828G>C	2.37:g.233655523G>C			233363767	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	CCDS33401.1																																																																																				0.493	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		C	233655523	G	C	233655523	2	2	340	1	0	0	0	0	0	0	0	1	6378	1161	41	3		3	GIGYF2	2	233655523	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	14093666	233655523	9543850	24	18328											
FBLN2	2199	genome.wustl.edu	37	3	13677995	13677995	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:13677995T>C	ENST00000295760.7	+	16	3193	c.3124T>C	c.(3124-3126)Tgc>Cgc	p.C1042R	FBLN2_ENST00000535798.1_Missense_Mutation_p.C1068R|FBLN2_ENST00000404922.3_Missense_Mutation_p.C1089R|FBLN2_ENST00000492059.1_Missense_Mutation_p.C1089R	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1042	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGCTGAGACCTGCCACAACAT	0.612																																																0			3											62	73	69					3																	13677995		2177	4281	6458	13652996	SO:0001583	missense	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3124T>C	3.37:g.13677995T>C	ENSP00000295760:p.Cys1042Arg		13652996	B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253424	0.80135	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99445	-5.91;-5.91;-5.76;-5.91	4.91	4.91	0.64330	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.98936	4.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.96895	0.9656	10	0.87932	D	0	.	14.5639	0.68162	0.0:0.0:0.0:1.0	.	1042;1089;1068	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	R	1068;1089;1042;1089	ENSP00000445705:C1068R;ENSP00000384169:C1089R;ENSP00000295760:C1042R;ENSP00000420042:C1089R	ENSP00000295760:C1042R	C	+	1	0	FBLN2	13652996	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.984000	0.88150	1.848000	0.53677	0.459000	0.35465	TGC		0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		C	13677995	T	C	13677995	3	2	340	1	0	0	0	0	1	0	0	0	5699	1580	55	4	2017	4	FBLN2	3	13677995	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09		13677995	184344435	25	18329											
SATB1	6304	genome.wustl.edu	37	3	18428081	18428081	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:18428081C>T	ENST00000338745.6	-	8	2963	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.R410Q|SATB1_ENST00000454909.2_Missense_Mutation_p.R410Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	410	Matrix attachment region (MAR) DNA- binding.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTCTTCCTTTCGGAGGATTTC	0.507																																																0			3											74	75	75					3																	18428081		2203	4300	6503	18403085	SO:0001583	missense	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1229G>A	3.37:g.18428081C>T	ENSP00000341024:p.Arg410Gln		18403085	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	36	5.641154	0.96693	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.63417	-0.04;-0.04;-0.02	6.05	6.05	0.98169	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83805	0.0238	10	0.72032	D	0.01	-18.0943	20.6013	0.99457	0.0:1.0:0.0:0.0	.	410;410	Q01826-2;Q01826	.;SATB1_HUMAN	Q	410	ENSP00000341024:R410Q;ENSP00000399708:R410Q;ENSP00000399518:R410Q	ENSP00000341024:R410Q	R	-	2	0	SATB1	18403085	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.757000	0.85209	2.878000	0.98634	0.650000	0.86243	CGA		0.507	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		T	18428081	C	T	18428081	3	4	340	1	0	0	0	0	1	0	0	0	13856	884	31	1	1078	1	SATB1	3	18428081	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	4750086	18428081	179594349	26	18330											
CELSR3	1951	genome.wustl.edu	37	3	48677416	48677416	+	Missense_Mutation	SNP	C	C	T	rs115648137	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:48677416C>T	ENST00000164024.4	-	34	9882	c.9602G>A	c.(9601-9603)cGg>cAg	p.R3201Q	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3206Q	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3201					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCTGCTCCCGAGAGTTCGA	0.677													C|||	50	0.00998403	0.0356	0.0043	5008	,	,		15006	0		0	False		,,,				2504	0															0			3						C	GLN/ARG	136,4264	91.6+/-130.3	2,132,2066	33	40	37		9602	4	1	3	dbSNP_132	37	4,8592	3.7+/-12.6	0,4,4294	yes	missense	CELSR3	NM_001407.2	43	2,136,6360	TT,TC,CC		0.0465,3.0909,1.0773	possibly-damaging	3201/3313	48677416	140,12856	2200	4298	6498	48652420	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9602G>A	3.37:g.48677416C>T	ENSP00000164024:p.Arg3201Gln		48652420	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	19	0.0086996336996337	15	0.03048780487804878	4	0.011049723756906077	0	0.0	0	0.0	C	16.39	3.110689	0.56398	0.030909	4.65E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71698	-0.59;-0.58	4.92	3.98	0.46160	.	.	.	.	.	T	0.31327	0.0793	L	0.32530	0.975	0.43408	D	0.995548	P;P;P	0.47677	0.809;0.71;0.899	B;B;B	0.33799	0.17;0.082;0.082	T	0.53337	-0.8453	9	0.31617	T	0.26	.	16.7758	0.85550	0.0:0.8596:0.1404:0.0	.	3206;3201;3299	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	Q	3201;3206	ENSP00000164024:R3201Q;ENSP00000445694:R3206Q	ENSP00000164024:R3201Q	R	-	2	0	CELSR3	48652420	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	2.686000	0.46968	2.267000	0.75376	0.555000	0.69702	CGG		0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48677416	C	T	48677416	3	4	340	1	0	0	0	0	1	0	0	0	3223	652	23	1	344	1	CELSR3	3	48677416	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	30249335	48677416	149345014	27	18331											
WDR6	11180	genome.wustl.edu	37	3	49052671	49052671	+	Missense_Mutation	SNP	C	C	T	rs148510310		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:49052671C>T	ENST00000608424.1	+	6	3355	c.3316C>T	c.(3316-3318)Cgt>Tgt	p.R1106C	WDR6_ENST00000448293.1_Missense_Mutation_p.R1055C|DALRD3_ENST00000496568.1_5'Flank|WDR6_ENST00000395474.3_Missense_Mutation_p.R1136C|WDR6_ENST00000415265.2_Missense_Mutation_p.R554C			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	1106					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTTTGGCCACCGTTGTGCCCT	0.587																																																0			3						C	CYS/ARG,,	0,4406		0,0,2203	96	76	83		3406,,	5.5	1	3	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,utr-3	WDR6,DALRD3	NM_018031.3,NM_001009996.1,NM_018114.4	180,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,	1136/1152,,	49052671	1,13005	2203	4300	6503	49027675	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.3316C>T	3.37:g.49052671C>T	ENSP00000477389:p.Arg1106Cys		49027675	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	C	17.67	3.446829	0.63178	0.0	1.16E-4	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T	0.61392	0.11;0.12	5.54	5.54	0.83059	.	0.297777	0.27792	N	0.017832	T	0.56834	0.2012	N	0.22421	0.69	0.44685	D	0.997673	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.62014	0.706;0.724;0.897	T	0.56335	-0.7996	10	0.41790	T	0.15	-27.41	8.6287	0.33906	0.0:0.8387:0.0:0.1613	.	554;1106;1055	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	C	1136;554;1055	ENSP00000378857:R1136C;ENSP00000413432:R1055C	ENSP00000378857:R1136C	R	+	1	0	WDR6	49027675	0.974000	0.33945	1.000000	0.80357	0.981000	0.71138	1.366000	0.34193	2.611000	0.88343	0.561000	0.74099	CGT		0.587	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			T	49052671	C	T	49052671	3	4	340	1	0	0	0	0	1	0	0	0	17310	652	23	1	3428	1	WDR6	3	49052671	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	375255	49052671	148969759	28	18332											
OR5K4	403278	genome.wustl.edu	37	3	98073009	98073009	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:98073009C>A	ENST00000354924.2	+	1	312	c.312C>A	c.(310-312)ctC>ctA	p.L104L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTTATTTTCTCTGTCTTGCTG	0.448																																																0			3											226	232	230					3																	98073009		2203	4300	6503	99555699	SO:0001819	synonymous_variant	403278				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.312C>A	3.37:g.98073009C>A			99555699		Silent	SNP	ENST00000354924.2	37	CCDS33802.1																																																																																				0.448	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			A	98073009	C	A	98073009	2	1	340	1	0	0	0	0	0	0	0	1	11169	900	32	3		3	OR5K4	3	98073009	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	49020338	98073009	99949421	29	18333											
ZBTB11	27107	genome.wustl.edu	37	3	101370048	101370048	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:101370048C>G	ENST00000312938.4	-	11	3704	c.3124G>C	c.(3124-3126)Gtt>Ctt	p.V1042L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1042					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTACTTTAACAGTTTGAATA	0.353																																																0			3											135	134	135					3																	101370048		2203	4300	6503	102852738	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3124G>C	3.37:g.101370048C>G	ENSP00000326200:p.Val1042Leu		102852738	Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226830	0.79576	.	.	ENSG00000066422	ENST00000312938	T	0.11169	2.8	5.39	5.39	0.77823	.	0.056466	0.64402	D	0.000001	T	0.10594	0.0259	L	0.27053	0.805	0.80722	D	1	P	0.47350	0.894	B	0.39935	0.314	T	0.04855	-1.0922	10	0.51188	T	0.08	-12.121	19.5182	0.95174	0.0:1.0:0.0:0.0	.	1042	O95625	ZBT11_HUMAN	L	1042	ENSP00000326200:V1042L	ENSP00000326200:V1042L	V	-	1	0	ZBTB11	102852738	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.334000	0.65923	2.692000	0.91855	0.555000	0.69702	GTT		0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		G	101370048	C	G	101370048	3	3	340	1	0	0	0	0	1	0	0	0	17524	478	17	3	41	3	ZBTB11	3	101370048	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	3297039	101370048	96652382	30	18334											
DRD5	1816	genome.wustl.edu	37	4	9783719	9783719	+	Silent	SNP	G	G	A	rs191825696	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr4:9783719G>A	ENST00000304374.2	+	1	462	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	22					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGCAGCTGGCGCAGGGGAACG	0.706													G|||	18	0.00359425	0.0106	0.0058	5008	,	,		15735	0		0	False		,,,				2504	0															0			4						G		44,4244		0,44,2100	6	7	7		66	-4.5	0	4		7	2,8428		0,2,4213	no	coding-synonymous	DRD5	NM_000798.4		0,46,6313	AA,AG,GG		0.0237,1.0261,0.3617		22/478	9783719	46,12672	2144	4215	6359	9392817	SO:0001819	synonymous_variant	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.66G>A	4.37:g.9783719G>A			9392817	B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	CCDS3405.1																																																																																				0.706	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			A	9783719	G	A	9783719	2	1	340	1	0	0	0	0	0	0	0	1	4760	1074	38	1		1	DRD5	4	9783719	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09		9783719	181370557	31	18335											
FGF5	2250	genome.wustl.edu	37	4	81188280	81188280	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr4:81188280T>G	ENST00000312465.7	+	1	528	c.302T>G	c.(301-303)cTg>cGg	p.L101R	FGF5_ENST00000456523.3_Missense_Mutation_p.L101R	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	101					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GGTTTCCATCTGCAGATCTAC	0.582																																																0			4											47	52	51					4																	81188280		2202	4298	6500	81407304	SO:0001583	missense	2250			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.302T>G	4.37:g.81188280T>G	ENSP00000311697:p.Leu101Arg		81407304	B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854347	0.91355	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	D;D	0.90069	-1.54;-2.61	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.95414	0.8511	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96219	0.9159	10	0.87932	D	0	.	15.794	0.78394	0.0:0.0:0.0:1.0	.	101;101	P12034-2;P12034	.;FGF5_HUMAN	R	101	ENSP00000311697:L101R;ENSP00000398353:L101R	ENSP00000311697:L101R	L	+	2	0	FGF5	81407304	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.099000	0.76981	2.317000	0.78254	0.459000	0.35465	CTG		0.582	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			G	81188280	T	G	81188280	3	3	340	1	0	0	0	0	1	0	0	0	5855	1580	55	5	304	5	FGF5	4	81188280	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	71404561	81188280	109965996	32	18336											
ANK2	287	genome.wustl.edu	37	4	114274446	114274446	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr4:114274446G>T	ENST00000357077.4	+	38	4725	c.4672G>T	c.(4672-4674)Gac>Tac	p.D1558Y	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D1525Y|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1558					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTTAAAGAGGACTTAGAGAA	0.453																																																0			4											61	64	63					4																	114274446		2203	4300	6503	114493895	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4672G>T	4.37:g.114274446G>T	ENSP00000349588:p.Asp1558Tyr		114493895	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400719	0.62177	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.77620	-0.55;-0.72;-1.11;-1.04	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000020	D	0.88051	0.6333	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.71414	0.917;0.973	D	0.89192	0.3551	10	0.87932	D	0	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	1525;1558	Q01484;Q01484-4	ANK2_HUMAN;.	Y	1471;1573;1558;1525	ENSP00000421011:D1471Y;ENSP00000424722:D1573Y;ENSP00000349588:D1558Y;ENSP00000264366:D1525Y	ENSP00000264366:D1525Y	D	+	1	0	ANK2	114493895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.500000	0.84329	0.650000	0.86243	GAC		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114274446	G	T	114274446	3	4	340	1	0	0	0	0	1	0	0	0	621	1174	41	3	4887	3	ANK2	4	114274446	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	33086166	114274446	76879830	33	18337											
CCT5	22948	genome.wustl.edu	37	5	10258338	10258338	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:10258338G>A	ENST00000280326.4	+	5	1066	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	CCT5_ENST00000503026.1_Missense_Mutation_p.G195S|CCT5_ENST00000515390.1_Missense_Mutation_p.G161S|CCT5_ENST00000515676.1_Missense_Mutation_p.G178S|CCT5_ENST00000506600.1_Missense_Mutation_p.G123S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	216					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGGCAAAGTGGGCGGCAGGCT	0.502																																																0			5											97	82	87					5																	10258338		2203	4300	6503	10311338	SO:0001583	missense	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.646G>A	5.37:g.10258338G>A	ENSP00000280326:p.Gly216Ser		10311338	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686803	0.96784	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	H	0.99740	4.74	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;1.0;1.0	D	0.99620	1.0983	10	0.87932	D	0	-29.2698	18.6782	0.91537	0.0:0.0:1.0:0.0	.	123;161;65;214;216;216	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	S	216;195;161;189;178;123	ENSP00000280326:G216S;ENSP00000423318:G195S;ENSP00000426923:G161S;ENSP00000427297:G178S;ENSP00000423052:G123S	ENSP00000280326:G216S	G	+	1	0	CCT5	10311338	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.265000	0.95647	2.648000	0.89879	0.650000	0.86243	GGC		0.502	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			A	10258338	G	A	10258338	3	1	340	1	0	0	0	0	1	0	0	0	2956	1232	43	2	664	2	CCT5	5	10258338	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09		10258338	170656922	34	18338											
FAM105A	54491	genome.wustl.edu	37	5	14602388	14602388	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:14602388T>G	ENST00000274217.3	+	5	565	c.445T>G	c.(445-447)Ttc>Gtc	p.F149V		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	149	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					ATTTCAGATATTCAGCCAGGG	0.398																																																0			5											127	119	122					5																	14602388		2203	4300	6503	14655388	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.445T>G	5.37:g.14602388T>G	ENSP00000274217:p.Phe149Val		14655388	Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.160428	0.57368	.	.	ENSG00000145569	ENST00000274217	T	0.16073	2.37	5.2	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	M	0.63428	1.95	0.34016	D	0.652075	P	0.45531	0.86	P	0.44561	0.453	T	0.40757	-0.9546	10	0.62326	D	0.03	-27.4555	11.1915	0.48687	0.0:0.0736:0.0:0.9264	.	149	Q9NUU6	F105A_HUMAN	V	149	ENSP00000274217:F149V	ENSP00000274217:F149V	F	+	1	0	FAM105A	14655388	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.884000	0.39668	1.960000	0.56953	0.454000	0.30748	TTC		0.398	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		G	14602388	T	G	14602388	3	3	340	1	0	0	0	0	1	0	0	0	5387	1493	52	5	463	5	FAM105A	5	14602388	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	4344050	14602388	166312872	35	18339											
ELOVL7	79993	genome.wustl.edu	37	5	60060124	60060124	+	Silent	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:60060124C>T	ENST00000508821.1	-	7	743	c.429G>A	c.(427-429)gtG>gtA	p.V143V	ELOVL7_ENST00000505959.1_Silent_p.V130V|ELOVL7_ENST00000425382.1_Silent_p.V143V|ELOVL7_ENST00000438340.1_Silent_p.V143V	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	143					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GAAGGAAAGTCACTTGGCTAT	0.353																																																0			5											87	83	84					5																	60060124		2203	4300	6503	60095881	SO:0001819	synonymous_variant	79993			AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.429G>A	5.37:g.60060124C>T			60095881	Q589T3|Q9H5D0|Q9NT66	Silent	SNP	ENST00000508821.1	37	CCDS34164.1																																																																																				0.353	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			T	60060124	C	T	60060124	2	4	340	1	0	0	0	0	0	0	0	1	5079	813	29	2		2	ELOVL7	5	60060124	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	45457736	60060124	120855136	36	18340											
FLJ37543	285668	genome.wustl.edu	37	5	60982795	60982795	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:60982795G>C	ENST00000505642.1	+	3	198	c.123G>C	c.(121-123)gaG>gaC	p.E41D	C5orf64_ENST00000313303.7_Missense_Mutation_p.E41D|RP11-2O17.2_ENST00000507264.1_RNA|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000510414.1_Intron|RP11-2O17.2_ENST00000513386.1_RNA	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	41						extracellular region (GO:0005576)				breast(1)	1						CTGCGATAGAGACAGAGTTCA	0.448																																																0			5											165	155	158					5																	60982795		1925	4147	6072	61018552	SO:0001583	missense	285668				CCDS54860.1	5q12.1	2014-02-12	2011-05-05		ENSG00000178722	ENSG00000178722			26744	protein-coding gene	gene with protein product							Standard	NM_173667		Approved	FLJ37543	uc003jst.1	Q2M2E5	OTTHUMG00000162412	ENST00000505642.1:c.123G>C	5.37:g.60982795G>C	ENSP00000423157:p.Glu41Asp		61018552	Q2M2H1|Q8N1U8	Missense_Mutation	SNP	ENST00000505642.1	37	CCDS54860.1	.	.	.	.	.	.	.	.	.	.	G	6.342	0.431120	0.12045	.	.	ENSG00000178722	ENST00000505642;ENST00000313303	T;T	0.37752	1.18;1.18	5.03	0.599	0.17519	.	0.696244	0.11835	N	0.524874	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.20550	0.046	B	0.17722	0.019	T	0.24048	-1.0171	10	0.25751	T	0.34	-0.252	4.921	0.13869	0.1894:0.0:0.561:0.2496	.	41	Q2M2E5	CE064_HUMAN	D	41	ENSP00000423157:E41D;ENSP00000318395:E41D	ENSP00000318395:E41D	E	+	3	2	C5orf64	61018552	0.014000	0.17966	0.000000	0.03702	0.304000	0.27724	0.604000	0.24164	-0.090000	0.12462	-0.345000	0.07892	GAG		0.448	C5orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368790.1	NM_173667		C	60982795	G	C	60982795	3	2	340	1	0	0	0	0	1	0	0	0	5929	933	33	3	129	3	FLJ37543	5	60982795	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	922671	60982795	119932465	37	18341											
PCDHA6	56142	genome.wustl.edu	37	5	140207965	140207965	+	Missense_Mutation	SNP	G	G	C	rs150162226	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:140207965G>C	ENST00000529310.1	+	1	403	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G97R|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGCGGGCGGAGCGC	0.577																																																0			5											111	127	121					5																	140207965		2203	4291	6494	140188149	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.289G>C	5.37:g.140207965G>C	ENSP00000433378:p.Gly97Arg		140188149	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	9.482	1.098477	0.20552	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.30981	1.51;1.51	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.213176	0.22539	U	0.058753	T	0.37945	0.1022	M	0.70595	2.14	0.26008	N	0.98203	D;P;P	0.56287	0.975;0.915;0.791	P;P;P	0.46389	0.515;0.49;0.51	T	0.34625	-0.9821	10	0.51188	T	0.08	.	12.2854	0.54789	0.0:0.1713:0.8287:0.0	.	97;97;97	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	97	ENSP00000433378:G97R;ENSP00000434113:G97R	ENSP00000434113:G97R	G	+	1	0	PCDHA6	140188149	0.984000	0.35163	1.000000	0.80357	0.243000	0.25628	5.505000	0.66981	2.139000	0.66308	0.313000	0.20887	GGG		0.577	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		C	140207965	G	C	140207965	3	2	340	1	0	0	0	0	1	0	0	0	11528	1116	39	3	291	3	PCDHA6	5	140207965	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	79225170	140207965	40707295	38	18342											
TCERG1	10915	genome.wustl.edu	37	5	145862219	145862219	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:145862219G>A	ENST00000296702.5	+	13	1989	c.1951G>A	c.(1951-1953)Gcc>Acc	p.A651T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A630T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	651					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATTAAAGCTGCCCGAGAAAG	0.418																																																0			5											51	53	52					5																	145862219		2203	4300	6503	145842412	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1951G>A	5.37:g.145862219G>A	ENSP00000296702:p.Ala651Thr		145842412	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715124	0.89112	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.26660	1.72;1.72	5.95	5.95	0.96441	FF domain (2);	0.047417	0.85682	D	0.000000	T	0.53690	0.1812	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.74674	0.962;0.984	T	0.42050	-0.9474	10	0.38643	T	0.18	-9.602	20.3719	0.98893	0.0:0.0:1.0:0.0	.	630;651	O14776-2;O14776	.;TCRG1_HUMAN	T	651;630	ENSP00000296702:A651T;ENSP00000377943:A630T	ENSP00000296702:A651T	A	+	1	0	TCERG1	145842412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.826000	0.97356	0.491000	0.48974	GCC		0.418	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		A	145862219	G	A	145862219	3	1	340	1	0	0	0	0	1	0	0	0	15685	1319	46	2	2001	2	TCERG1	5	145862219	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	5654254	145862219	35053041	39	18343											
ADAM19	8728	genome.wustl.edu	37	5	156946894	156946894	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:156946894C>T	ENST00000517905.1	-	6	597	c.553G>A	c.(553-555)Gac>Aac	p.D185N	ADAM19_ENST00000394020.1_Missense_Mutation_p.D187N|ADAM19_ENST00000257527.4_Missense_Mutation_p.D185N|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	185					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAGCCCAGTCCCTGGTGGTG	0.562																																																0			5											110	116	114					5																	156946894		2203	4300	6503	156879472	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.553G>A	5.37:g.156946894C>T	ENSP00000428654:p.Asp185Asn		156879472	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.	.	.	.	.	.	.	.	.	.	C	15.24	2.773868	0.49786	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01725	4.68;4.71;4.67	5.67	4.8	0.61643	.	0.162092	0.43579	D	0.000542	T	0.02342	0.0072	L	0.52364	1.645	0.40931	D	0.984399	B	0.21147	0.052	B	0.18561	0.022	T	0.50866	-0.8777	10	0.16896	T	0.51	.	11.7035	0.51585	0.0:0.9176:0.0:0.0823	.	185	Q9H013-2	.	N	185;187;185	ENSP00000257527:D185N;ENSP00000377588:D187N;ENSP00000428654:D185N	ENSP00000257527:D185N	D	-	1	0	ADAM19	156879472	0.515000	0.26210	0.809000	0.32408	0.969000	0.65631	1.013000	0.29937	1.402000	0.46780	0.655000	0.94253	GAC		0.562	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		T	156946894	C	T	156946894	3	4	340	1	0	0	0	0	1	0	0	0	240	855	30	2	2275	2	ADAM19	5	156946894	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	11084675	156946894	23968366	40	18344											
OR5V1	81696	genome.wustl.edu	37	6	29323251	29323251	+	Missense_Mutation	SNP	C	C	A	rs149477718	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr6:29323251C>A	ENST00000377154.1	-	4	1021	c.722G>T	c.(721-723)tGt>tTt	p.C241F	OR5V1_ENST00000543825.1_Missense_Mutation_p.C241F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGGGAGGCACATGTAGAGAA	0.443																																					Ovarian(32;43 883 21137 32120 42650)											0			6											91	82	85					6																	29323251		2203	4300	6503	29431230	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.722G>T	6.37:g.29323251C>A	ENSP00000366359:p.Cys241Phe		29431230	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186163	0.38609	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00368	7.75;7.75	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01254	0.0041	H	0.97732	4.065	0.45930	D	0.998768	D	0.89917	1.0	D	0.91635	0.999	T	0.27839	-1.0062	9	0.87932	D	0	-44.5685	18.0803	0.89440	0.0:1.0:0.0:0.0	.	241	Q9UGF6	OR5V1_HUMAN	F	241	ENSP00000366359:C241F;ENSP00000443309:C241F	ENSP00000366356:C241F	C	-	2	0	OR5V1	29431230	1.000000	0.71417	0.958000	0.39756	0.119000	0.20118	4.993000	0.63895	2.601000	0.87937	0.543000	0.68304	TGT		0.443	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			A	29323251	C	A	29323251	3	1	340	1	0	0	0	0	1	0	0	0	11184	478	17	3	246	3	OR5V1	6	29323251	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09		29323251	141791816	41	18345											
ZBTB24	9841	genome.wustl.edu	37	6	109796645	109796645	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr6:109796645G>A	ENST00000230122.3	-	5	1412	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	415					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ACACATCCATGAATTTGCGAT	0.463																																																0			6											220	180	194					6																	109796645		2203	4300	6503	109903338	SO:0001819	synonymous_variant	9841			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1245C>T	6.37:g.109796645G>A			109903338	Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	CCDS34509.1																																																																																				0.463	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		A	109796645	G	A	109796645	2	1	340	1	0	0	0	0	0	0	0	1	17531	1281	45	2		2	ZBTB24	6	109796645	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	80473394	109796645	61318422	42	18346											
TAGAP	117289	genome.wustl.edu	37	6	159461803	159461803	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr6:159461803C>A	ENST00000367066.3	-	7	870	c.539G>T	c.(538-540)gGt>gTt	p.G180V	TAGAP_ENST00000326965.6_Missense_Mutation_p.G2V|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.G180V|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	180	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCCAGAGCACCCATCCACTC	0.532																																																0			6											162	146	151					6																	159461803		2203	4300	6503	159381791	SO:0001583	missense	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.539G>T	6.37:g.159461803C>A	ENSP00000356033:p.Gly180Val		159381791	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574975	0.28092	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000338313	T;T;T	0.18502	2.21;2.44;2.21	5.78	-0.723	0.11181	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.983537	0.08329	N	0.962668	T	0.03959	0.0111	L	0.39020	1.185	0.52501	D	0.999956	B;B	0.27192	0.013;0.171	B;B	0.24006	0.015;0.05	T	0.44034	-0.9354	10	0.40728	T	0.16	-11.7997	2.1443	0.03783	0.1083:0.2625:0.1923:0.4368	.	180;180	Q8N103-4;Q8N103	.;TAGAP_HUMAN	V	180;2;180	ENSP00000356033:G180V;ENSP00000322650:G2V;ENSP00000340217:G180V	ENSP00000322650:G2V	G	-	2	0	TAGAP	159381791	0.524000	0.26282	0.969000	0.41365	0.739000	0.42172	0.640000	0.24705	-0.134000	0.11516	0.563000	0.77884	GGT		0.532	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		A	159461803	C	A	159461803	3	1	340	1	0	0	0	0	1	0	0	0	15537	507	18	3	1690	3	TAGAP	6	159461803	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	49665158	159461803	11653264	43	18347											
HECW1	23072	genome.wustl.edu	37	7	43485101	43485123	+	Frame_Shift_Del	DEL	GCGGGCACGTGGAAAGAAGCCCG	GCGGGCACGTGGAAAGAAGCCCG	-	rs200544206|rs373326288|rs548549863|rs377512268		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	GCGGGCACGTGGAAAGAAGCCCG	GCGGGCACGTGGAAAGAAGCCCG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr7:43485101_43485123delGCGGGCACGTGGAAAGAAGCCCG	ENST00000395891.2	+	11	2935_2957	c.2330_2352delGCGGGCACGTGGAAAGAAGCCCG	c.(2329-2352)agcgggcacgtggaaagaagcccgfs	p.SGHVERSP777fs	HECW1_ENST00000453890.1_Frame_Shift_Del_p.SGHVERSP777fs	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	777					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCGCCCCTAGCGGGCACGTGGAAAGAAGCCCGGAAGGTCTGG	0.619																																																0			7																																								43451648	SO:0001589	frameshift_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2330_2352delGCGGGCACGTGGAAAGAAGCCCG	7.37:g.43485101_43485123delGCGGGCACGTGGAAAGAAGCCCG	ENSP00000379228:p.Ser777fs		43451626	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Frame_Shift_Del	DEL	ENST00000395891.2	37	CCDS5469.2																																																																																				0.619	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		-	43485123	GCGGGCACGTGGAAAGAAGCCCG	-	43485101	7	5	340	1	0	1	0	1	0	0	0	0	7042	971	34	0	2364	0	HECW1	7	43485101	Frame_Shift_Del	DEL	GCGGGCACGTGGAAAGAAGCCCG	TCGA-29-1763-01A-02W-0633-09		43485101	115653562	44	18348											
COBL	23242	genome.wustl.edu	37	7	51261214	51261214	+	Silent	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr7:51261214T>C	ENST00000265136.7	-	3	483	c.318A>G	c.(316-318)gaA>gaG	p.E106E	COBL_ENST00000395542.2_Silent_p.E106E|COBL_ENST00000441453.1_Silent_p.E106E|COBL_ENST00000395540.2_Silent_p.E106E	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	106					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAGACCGAATTTCAAGGGCAT	0.413																																					NSCLC(189;2119 2138 12223 30818 34679)											0			7											94	84	87					7																	51261214		2203	4300	6503	51228708	SO:0001819	synonymous_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.318A>G	7.37:g.51261214T>C			51228708	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	T	9.489	1.100144	0.20552	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.58	4.61	0.57282	.	.	.	.	.	T	0.59362	0.2188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56547	-0.7961	4	.	.	.	.	8.8422	0.35148	0.0:0.7883:0.0:0.2117	.	.	.	.	D	25	.	.	N	-	1	0	COBL	51228708	1.000000	0.71417	0.992000	0.48379	0.961000	0.63080	1.794000	0.38774	1.154000	0.42482	-0.408000	0.06270	AAT		0.413	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		C	51261214	T	C	51261214	2	2	340	1	0	0	0	0	0	0	0	1	3653	1838	64	4		4	COBL	7	51261214	Silent	SNP	T	TCGA-29-1763-01A-02W-0633-09	7776113	51261214	107877449	45	18349											
CACNA2D1	781	genome.wustl.edu	37	7	81593415	81593415	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr7:81593415C>A	ENST00000356253.5	-	34	3028	c.2773G>T	c.(2773-2775)Gca>Tca	p.A925S	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A913S|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A125S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	925					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AATATGTCTGCTACTGATGGC	0.348																																																0			7											42	45	44					7																	81593415		2198	4293	6491	81431351	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2773G>T	7.37:g.81593415C>A	ENSP00000348589:p.Ala925Ser		81431351	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	15.83	2.949934	0.53186	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.74209	-0.82;-0.82;-0.82	5.36	2.48	0.30137	.	0.272168	0.41712	N	0.000832	T	0.78188	0.4244	M	0.81942	2.565	0.43798	D	0.996346	P;P	0.48230	0.532;0.907	B;P	0.52109	0.423;0.69	T	0.73084	-0.4094	10	0.30078	T	0.28	-3.6654	7.4754	0.27374	0.1179:0.6836:0.0:0.1985	.	125;913	B7Z658;P54289-2	.;.	S	913;932;925;125	ENSP00000349320:A913S;ENSP00000348589:A925S;ENSP00000443124:A125S	ENSP00000284088:A932S	A	-	1	0	CACNA2D1	81431351	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.445000	0.44899	0.300000	0.22699	-0.151000	0.13558	GCA		0.348	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				A	81593415	C	A	81593415	3	1	340	1	0	0	0	0	1	0	0	0	2548	797	28	3	562	3	CACNA2D1	7	81593415	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	30332201	81593415	77545248	46	18350											
MUC17	140453	genome.wustl.edu	37	7	100683048	100683048	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr7:100683048C>A	ENST00000306151.4	+	3	8415	c.8351C>A	c.(8350-8352)aCt>aAt	p.T2784N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2784	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTCACCACTTCTACTGAA	0.478																																																0			7											253	246	248					7																	100683048		2203	4300	6503	100469768	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8351C>A	7.37:g.100683048C>A	ENSP00000302716:p.Thr2784Asn		100469768	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	7.416	0.635702	0.14322	.	.	ENSG00000169876	ENST00000306151	T	0.02974	4.09	1.06	0.122	0.14702	.	.	.	.	.	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	P	0.51653	0.947	P	0.55965	0.788	T	0.44406	-0.9330	9	0.26408	T	0.33	.	3.8136	0.08806	0.0:0.5217:0.0:0.4783	.	2784	Q685J3	MUC17_HUMAN	N	2784	ENSP00000302716:T2784N	ENSP00000302716:T2784N	T	+	2	0	MUC17	100469768	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.316000	0.19469	0.034000	0.15491	0.134000	0.15878	ACT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100683048	C	A	100683048	3	1	340	1	0	0	0	0	1	0	0	0	9974	565	20	3	8361	3	MUC17	7	100683048	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	19089633	100683048	58455615	47	18351											
CSMD1	64478	genome.wustl.edu	37	8	3019743	3019743	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:3019743C>T	ENST00000520002.1	-	39	6340	c.5785G>A	c.(5785-5787)Gga>Aga	p.G1929R	CSMD1_ENST00000537824.1_Missense_Mutation_p.G1928R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1929R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1929R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1928R|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1929R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1928R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1929	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				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)		TACCGATCTCCGATTTTGATG	0.478																																																0			8											92	96	95					8																	3019743		1966	4155	6121	3007150	SO:0001583	missense	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.5785G>A	8.37:g.3019743C>T	ENSP00000430733:p.Gly1929Arg		3007150	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.82|15.82	2.945968|2.945968	0.53079|0.53079	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09;-0.09|.	5.38|5.38	4.5|4.5	0.54988|0.54988	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83949|0.83949	0.5365|0.5365	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.991|.	D|D	0.87766|0.87766	0.2602|0.2602	10|5	0.87932|.	D|.	0|.	.|.	14.0122|14.0122	0.64505|0.64505	0.0:0.926:0.0:0.074|0.0:0.926:0.0:0.074	.|.	1929;1929;1929|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	R|Q	1929;1929;1790;1928;1928;1928|1408	ENSP00000383047:G1929R;ENSP00000430733:G1929R;ENSP00000441462:G1928R;ENSP00000446243:G1928R;ENSP00000441675:G1928R|.	ENSP00000320445:G1790R|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	3007150|3007150	1.000000|1.000000	0.71417|0.71417	0.043000|0.043000	0.18650|0.18650	0.026000|0.026000	0.11368|0.11368	7.062000|7.062000	0.76706|0.76706	1.399000|1.399000	0.46721|0.46721	-0.136000|-0.136000	0.14681|0.14681	GGA|CGG		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3019743	C	T	3019743	3	4	340	1	0	0	0	0	1	0	0	0	3944	661	23	1	5044	1	CSMD1	8	3019743	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09		3019743	143344279	48	18352											
EFHA2	286097	genome.wustl.edu	37	8	16921602	16921602	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:16921602G>A	ENST00000318063.5	+	2	433	c.391G>A	c.(391-393)Ggc>Agc	p.G131S		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	131						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GGTTGCTATTGGCAGAACAGA	0.363																																																0			8											180	165	170					8																	16921602		2203	4300	6503	16965973	SO:0001583	missense	286097			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.391G>A	8.37:g.16921602G>A	ENSP00000321455:p.Gly131Ser		16965973	Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443327	0.25987	.	.	ENSG00000155970	ENST00000318063	T	0.42900	0.96	5.23	3.18	0.36537	.	0.686095	0.14211	N	0.334070	T	0.15089	0.0364	N	0.01352	-0.895	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.20519	T	0.43	-1.6737	8.1824	0.31319	0.3634:0.0:0.6366:0.0	.	131	Q86XE3	EFHA2_HUMAN	S	131	ENSP00000321455:G131S	ENSP00000321455:G131S	G	+	1	0	EFHA2	16965973	0.743000	0.28239	0.461000	0.27105	0.905000	0.53344	1.328000	0.33758	0.503000	0.28060	0.591000	0.81541	GGC		0.363	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		A	16921602	G	A	16921602	3	1	340	1	0	0	0	0	1	0	0	0	4944	1348	47	2	397	2	EFHA2	8	16921602	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	13901859	16921602	129442420	49	18353											
LYPLA1	10434	genome.wustl.edu	37	8	54963653	54963653	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:54963653C>A	ENST00000316963.3	-	8	751	c.558G>T	c.(556-558)gtG>gtT	p.V186V	LYPLA1_ENST00000519926.1_5'Flank|LYPLA1_ENST00000522007.1_3'UTR|LYPLA1_ENST00000343231.6_Silent_p.V170V	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	186					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TTAGTTTTTCCACCGTAAGAG	0.448																																																0			8											127	118	121					8																	54963653		2203	4300	6503	55126206	SO:0001819	synonymous_variant	10434			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.558G>T	8.37:g.54963653C>A			55126206	O43202|Q9UQF9	Silent	SNP	ENST00000316963.3	37	CCDS6157.1																																																																																				0.448	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			A	54963653	C	A	54963653	2	1	340	1	0	0	0	0	0	0	0	1	9116	581	21	3		3	LYPLA1	8	54963653	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	38042051	54963653	91400369	50	18354											
TTPA	7274	genome.wustl.edu	37	8	63978639	63978639	+	Missense_Mutation	SNP	C	C	T	rs138483857		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:63978639C>T	ENST00000260116.4	-	3	407	c.376G>A	c.(376-378)Gtt>Att	p.V126I	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	126	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GCTGTAAAAACTTTGGGGTCC	0.353													C|||	1	0.000199681	8e-04	0	5008	,	,		17750	0		0	False		,,,				2504	0															0			8						C	ILE/VAL	5,4401	6.2+/-15.9	0,5,2198	51	48	49		376	2.6	1	8	dbSNP_134	49	0,8600		0,0,4300	no	missense	TTPA	NM_000370.3	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	126/279	63978639	5,13001	2203	4300	6503	64141193	SO:0001583	missense	7274			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.376G>A	8.37:g.63978639C>T	ENSP00000260116:p.Val126Ile		64141193	Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883837	0.33255	0.001135	0.0	ENSG00000137561	ENST00000260116	T	0.75367	-0.93	5.54	2.6	0.31112	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.465045	0.23780	N	0.044623	T	0.49795	0.1578	N	0.16201	0.385	0.27447	N	0.953548	B	0.02656	0.0	B	0.04013	0.001	T	0.28839	-1.0031	10	0.40728	T	0.16	.	1.7941	0.03058	0.2286:0.4464:0.1122:0.2128	.	126	P49638	TTPA_HUMAN	I	126	ENSP00000260116:V126I	ENSP00000260116:V126I	V	-	1	0	TTPA	64141193	0.792000	0.28813	1.000000	0.80357	0.998000	0.95712	0.557000	0.23454	1.326000	0.45319	0.655000	0.94253	GTT		0.353	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		T	63978639	C	T	63978639	3	4	340	1	0	0	0	0	1	0	0	0	16736	565	20	2	472	2	TTPA	8	63978639	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	9014986	63978639	82385383	51	18355											
FABP12	646486	genome.wustl.edu	37	8	82443522	82443522	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:82443522T>A	ENST00000360464.4	-	1	91	c.29A>T	c.(28-30)aAg>aTg	p.K10M	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	10							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						AGAAATGGACTTCCATGTTCC	0.398																																																0			8											99	92	95					8																	82443522		1869	4103	5972	82606077	SO:0001583	missense	0				CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"Fatty acid binding protein family"	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.29A>T	8.37:g.82443522T>A	ENSP00000353650:p.Lys10Met		82606077	B7SUN0	Missense_Mutation	SNP	ENST00000360464.4	37	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175013	0.78564	.	.	ENSG00000197416	ENST00000360464	T	0.09911	2.93	4.83	4.83	0.62350	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.054825	0.64402	D	0.000001	T	0.43875	0.1267	H	0.94658	3.565	0.52501	D	0.999957	D	0.76494	0.999	D	0.74023	0.982	T	0.59894	-0.7368	9	.	.	.	.	14.5241	0.67875	0.0:0.0:0.0:1.0	.	10	A6NFH5	FBP12_HUMAN	M	10	ENSP00000353650:K10M	.	K	-	2	0	FABP12	82606077	1.000000	0.71417	0.933000	0.37362	0.899000	0.52679	5.487000	0.66863	2.140000	0.66376	0.533000	0.62120	AAG		0.398	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281		A	82443522	T	A	82443522	3	1	340	1	0	0	0	0	1	0	0	0	5356	1609	56	5	407	5	FABP12	8	82443522	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	18464883	82443522	63920500	52	18356											
RANBP6	26953	genome.wustl.edu	37	9	6013910	6013910	+	Silent	SNP	G	G	T	rs199515044		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr9:6013910G>T	ENST00000259569.5	-	1	1708	c.1698C>A	c.(1696-1698)atC>atA	p.I566I	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	566					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TAATGCACTCGATAGTTTTTC	0.378																																																0			9											134	129	130					9																	6013910		2203	4300	6503	6003910	SO:0001819	synonymous_variant	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1698C>A	9.37:g.6013910G>T			6003910	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	CCDS6467.1																																																																																				0.378	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		T	6013910	G	T	6013910	2	4	340	1	0	0	0	0	0	0	0	1	13034	1048	37	3		3	RANBP6	9	6013910	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09		6013910	135199521	53	18357											
PGM5	5239	genome.wustl.edu	37	9	71144548	71144548	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr9:71144548G>A	ENST00000396396.1	+	11	1909	c.1680G>A	c.(1678-1680)cgG>cgA	p.R560R		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	560					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GAACTGGCCGGAGGGGACCCA	0.507																																																0			9											54	47	49					9																	71144548		2203	4299	6502	70334368	SO:0001819	synonymous_variant	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1680G>A	9.37:g.71144548G>A			70334368	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	CCDS6622.2																																																																																				0.507	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		A	71144548	G	A	71144548	2	1	340	1	0	0	0	0	0	0	0	1	11801	1161	41	2		2	PGM5	9	71144548	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	65130638	71144548	70068883	54	18358											
PARD3	56288	genome.wustl.edu	37	10	34671760	34671760	+	Silent	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:34671760T>C	ENST00000374789.3	-	9	1432	c.1107A>G	c.(1105-1107)ctA>ctG	p.L369L	PARD3_ENST00000374788.3_Silent_p.L369L|PARD3_ENST00000374790.3_Silent_p.L325L|PARD3_ENST00000350537.4_Silent_p.L369L|PARD3_ENST00000545693.1_Silent_p.L369L|PARD3_ENST00000346874.4_Silent_p.L369L|PARD3_ENST00000374794.3_Silent_p.L325L|PARD3_ENST00000340077.5_Silent_p.L369L|PARD3_ENST00000374776.1_Silent_p.L369L|PARD3_ENST00000545260.1_Silent_p.L325L|PARD3_ENST00000544292.1_Silent_p.L99L|PARD3_ENST00000374773.1_Silent_p.L369L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	369					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CACTTTGGGATAGTTGTTCAT	0.458																																																0			10											167	161	163					10																	34671760		2203	4300	6503	34711766	SO:0001819	synonymous_variant	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1107A>G	10.37:g.34671760T>C			34711766	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	CCDS7178.1																																																																																				0.458	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		C	34671760	T	C	34671760	2	2	340	1	0	0	0	0	0	0	0	1	11443	1393	49	4		4	PARD3	10	34671760	Silent	SNP	T	TCGA-29-1763-01A-02W-0633-09		34671760	100862987	55	18359											
BICC1	80114	genome.wustl.edu	37	10	60549137	60549137	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:60549137T>A	ENST00000373886.3	+	7	720	c.716T>A	c.(715-717)gTa>gAa	p.V239E		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	239					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AATATTTCAGTATCATTTAAA	0.393																																																0			10											142	135	138					10																	60549137		2203	4300	6503	60219143	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.716T>A	10.37:g.60549137T>A	ENSP00000362993:p.Val239Glu		60219143		Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.965538	0.92855	.	.	ENSG00000122870	ENST00000373886	T	0.36157	1.27	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.61594	-0.7031	10	0.87932	D	0	-14.9001	15.9023	0.79387	0.0:0.0:0.0:1.0	.	239	Q9H694	BICC1_HUMAN	E	239	ENSP00000362993:V239E	ENSP00000362993:V239E	V	+	2	0	BICC1	60219143	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.810000	0.86072	2.153000	0.67306	0.533000	0.62120	GTA		0.393	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		A	60549137	T	A	60549137	3	1	340	1	0	0	0	0	1	0	0	0	1427	1638	57	5	742	5	BICC1	10	60549137	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	25877377	60549137	74985610	56	18360											
NDST2	8509	genome.wustl.edu	37	10	75562281	75562281	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:75562281C>A	ENST00000309979.6	-	15	3136	c.2580G>T	c.(2578-2580)aaG>aaT	p.K860N	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR|NDST2_ENST00000299641.4_Missense_Mutation_p.K737N			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	860	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGCTCAGCAGCTTCGACAACT	0.517																																																0			10											32	35	34					10																	75562281		2203	4300	6503	75232287	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2580G>T	10.37:g.75562281C>A	ENSP00000310657:p.Lys860Asn		75232287	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516816	0.64634	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.57107	0.42;0.42	6.17	2.85	0.33270	.	0.096296	0.64402	D	0.000003	T	0.68933	0.3055	M	0.92026	3.265	0.54753	D	0.999981	P	0.47962	0.903	P	0.53549	0.729	T	0.73490	-0.3966	10	0.87932	D	0	.	9.0962	0.36640	0.1145:0.7078:0.1111:0.0666	.	860	P52849	NDST2_HUMAN	N	860;737	ENSP00000310657:K860N;ENSP00000299641:K737N	ENSP00000299641:K737N	K	-	3	2	NDST2	75232287	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.835000	0.39181	0.908000	0.36671	-0.181000	0.13052	AAG		0.517	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		A	75562281	C	A	75562281	3	1	340	1	0	0	0	0	1	0	0	0	10256	796	28	3	75	3	NDST2	10	75562281	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	15013144	75562281	59972466	57	18361											
C10orf129	142827	genome.wustl.edu	37	10	96971700	96971700	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:96971700T>C	ENST00000394005.3	+	5	830	c.821T>C	c.(820-822)tTa>tCa	p.L274S	C10orf129_ENST00000430183.1_Missense_Mutation_p.L119S|C10orf129_ENST00000341686.3_Missense_Mutation_p.L274S			Q6P461	ACSM6_HUMAN		274					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGTGGATCTTTATCCCTGAGC	0.478																																																0			10											178	154	162					10																	96971700		2203	4300	6503	96961690	SO:0001583	missense	142827																														ENST00000394005.3:c.821T>C	10.37:g.96971700T>C	ENSP00000377573:p.Leu274Ser		96961690	A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	T	1.039	-0.679298	0.03353	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000430183;ENST00000394005	T;T;T	0.12361	3.07;2.69;3.07	1.69	1.69	0.24217	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.04363	0.0120	N	0.01874	-0.695	0.18873	N	0.999986	B	0.17852	0.024	B	0.15052	0.012	T	0.44190	-0.9344	9	0.18710	T	0.47	.	5.872	0.18809	0.0:0.0:0.0:1.0	.	274	Q6P461	ACSM6_HUMAN	S	300;274;119;274	ENSP00000340296:L274S;ENSP00000400368:L119S;ENSP00000377573:L274S	ENSP00000340296:L274S	L	+	2	0	C10orf129	96961690	0.000000	0.05858	0.003000	0.11579	0.756000	0.42949	0.434000	0.21494	0.745000	0.32763	0.372000	0.22366	TTA		0.478	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			C	96971700	T	C	96971700	3	2	340	1	0	0	0	0	1	0	0	0	1593	1764	61	4	839	4	C10orf129	10	96971700	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	21409419	96971700	38563047	58	18362											
ZNF518A	9849	genome.wustl.edu	37	10	97916761	97916761	+	RNA	SNP	A	A	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:97916761A>T	ENST00000534948.1	+	0	1539							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GCACATTCATAGACATAATGA	0.353																																																0			10											147	144	145					10																	97916761		1904	4117	6021	97906751			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916761A>T			97906751	A0PJI5|O15044|Q32MP4	Nonsense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.353	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		T	97916761	A	T	97916761	1	4	340	0	1	0	0	0	0	0	0	0	17962	412	15	5		5	ZNF518A	10	97916761	RNA	SNP	A	TCGA-29-1763-01A-02W-0633-09	945061	97916761	37617986	59	18363											
NLRP10	338322	genome.wustl.edu	37	11	7981766	7981766	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:7981766G>T	ENST00000328600.2	-	2	1554	c.1393C>A	c.(1393-1395)Cgc>Agc	p.R465S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	465	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGATGTGGCGGAAGCTGTAG	0.507																																																0			11											102	113	109					11																	7981766		2201	4296	6497	7938342	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1393C>A	11.37:g.7981766G>T	ENSP00000327763:p.Arg465Ser		7938342	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	4.880	0.163492	0.09287	.	.	ENSG00000182261	ENST00000328600	D	0.86956	-2.19	4.86	-1.62	0.08372	.	0.813795	0.10397	N	0.679692	T	0.70474	0.3228	N	0.11313	0.125	0.09310	N	0.999993	B	0.18863	0.031	B	0.20767	0.031	T	0.58853	-0.7563	10	0.54805	T	0.06	.	3.2929	0.06956	0.2826:0.0:0.3518:0.3656	.	465	Q86W26	NAL10_HUMAN	S	465	ENSP00000327763:R465S	ENSP00000327763:R465S	R	-	1	0	NLRP10	7938342	0.012000	0.17670	0.333000	0.25482	0.026000	0.11368	-0.054000	0.11826	-0.037000	0.13646	-0.182000	0.12963	CGC		0.507	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		T	7981766	G	T	7981766	3	4	340	1	0	0	0	0	1	0	0	0	10472	1116	39	3	578	3	NLRP10	11	7981766	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09		7981766	127024750	60	18364											
KCNC1	3746	genome.wustl.edu	37	11	17793871	17793871	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:17793871G>A	ENST00000379472.3	+	2	1260	c.1230G>A	c.(1228-1230)acG>acA	p.T410T	KCNC1_ENST00000265969.6_Silent_p.T410T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	410					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACCCGCAGACGTGGTCCGGCA	0.612																																																0			11											84	83	84					11																	17793871		2200	4293	6493	17750447	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1230G>A	11.37:g.17793871G>A			17750447	K4DI87	Silent	SNP	ENST00000379472.3	37	CCDS7827.1																																																																																				0.612	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		A	17793871	G	A	17793871	2	1	340	1	0	0	0	0	0	0	0	1	8014	1132	40	1		1	KCNC1	11	17793871	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	9812105	17793871	117212645	61	18365											
OR5B17	219965	genome.wustl.edu	37	11	58126393	58126393	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:58126393G>T	ENST00000357377.3	-	1	149	c.150C>A	c.(148-150)gaC>gaA	p.D50E		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGAGATGAGAGTCCAGCAGGA	0.468																																																0			11											83	80	81					11																	58126393		2201	4295	6496	57882969	SO:0001583	missense	219965			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.150C>A	11.37:g.58126393G>T	ENSP00000349945:p.Asp50Glu		57882969	Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	5.086	0.201527	0.09652	.	.	ENSG00000197786	ENST00000357377	T	0.02709	4.19	3.6	0.551	0.17225	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04724	0.0128	M	0.70595	2.14	0.09310	N	1	P	0.36438	0.553	B	0.36030	0.216	T	0.26677	-1.0096	9	0.72032	D	0.01	-16.886	7.5733	0.27920	0.3904:0.0:0.6096:0.0	.	50	Q8NGF7	OR5BH_HUMAN	E	50	ENSP00000349945:D50E	ENSP00000349945:D50E	D	-	3	2	OR5B17	57882969	0.000000	0.05858	0.369000	0.25952	0.011000	0.07611	-0.394000	0.07296	0.212000	0.20703	-0.677000	0.03784	GAC		0.468	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		T	58126393	G	T	58126393	3	4	340	1	0	0	0	0	1	0	0	0	11149	1020	36	3	796	3	OR5B17	11	58126393	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	40332522	58126393	76880123	62	18366											
AHNAK	79026	genome.wustl.edu	37	11	62292955	62292955	+	Silent	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:62292955C>T	ENST00000378024.4	-	5	9208	c.8934G>A	c.(8932-8934)aaG>aaA	p.K2978K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2978					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACATCGCCCTTCACCTTGG	0.512																																																0			11											159	169	165					11																	62292955		2202	4299	6501	62049531	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8934G>A	11.37:g.62292955C>T			62049531	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62292955	C	T	62292955	2	4	340	1	0	0	0	0	0	0	0	1	414	680	24	2		2	AHNAK	11	62292955	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	4166562	62292955	72713561	63	18367											
FAT3	120114	genome.wustl.edu	37	11	92616307	92616307	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:92616307C>A	ENST00000298047.6	+	23	12702	c.12685C>A	c.(12685-12687)Cag>Aag	p.Q4229K	FAT3_ENST00000409404.2_Missense_Mutation_p.Q4229K|FAT3_ENST00000533797.1_Missense_Mutation_p.Q564K|FAT3_ENST00000525166.1_Missense_Mutation_p.Q4079K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4229					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGCCCCCGCAGGTCCCCGT	0.672										TCGA Ovarian(4;0.039)																																						0			11											58	72	68					11																	92616307		1960	4133	6093	92255955	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12685C>A	11.37:g.92616307C>A	ENSP00000298047:p.Gln4229Lys		92255955	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	33	5.208602	0.95069	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.87029	-0.97;-1.09;-0.97;-2.2	5.85	5.85	0.93711	.	.	.	.	.	D	0.93539	0.7938	M	0.80982	2.52	0.80722	D	1	D;B	0.69078	0.997;0.001	D;B	0.70935	0.971;0.001	D	0.91242	0.5022	9	0.28530	T	0.3	.	20.161	0.98133	0.0:1.0:0.0:0.0	.	4229;4229	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	K	4229;4229;4079;564	ENSP00000298047:Q4229K;ENSP00000387040:Q4229K;ENSP00000432586:Q4079K;ENSP00000436399:Q564K	ENSP00000298047:Q4229K	Q	+	1	0	FAT3	92255955	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.719000	0.84751	2.770000	0.95276	0.655000	0.94253	CAG		0.672	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92616307	C	A	92616307	3	1	340	1	0	0	0	0	1	0	0	0	5691	711	25	3	12775	3	FAT3	11	92616307	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	30323352	92616307	42390209	64	18368											
FAM60A	58516	genome.wustl.edu	37	12	31446781	31446781	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:31446781T>A	ENST00000337682.4	-	4	681	c.313A>T	c.(313-315)Agc>Tgc	p.S105C	FAM60A_ENST00000542983.1_De_novo_Start_OutOfFrame|FAM60A_ENST00000395766.1_De_novo_Start_OutOfFrame|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.S105C	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	105					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					ATCTGGTTGCTTTTTATCCTG	0.363																																																0			12											99	91	94					12																	31446781		2203	4298	6501	31338048	SO:0001583	missense	58516			AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"chromosome 12 open reading frame 14"	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.313A>T	12.37:g.31446781T>A	ENSP00000337477:p.Ser105Cys		31338048	D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685692	0.68157	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.83	3.69	0.42338	.	0.225469	0.53938	D	0.000059	T	0.46171	0.1379	L	0.38175	1.15	0.80722	D	1	D;D	0.69078	0.99;0.997	P;P	0.57324	0.634;0.818	T	0.41910	-0.9482	10	0.66056	D	0.02	-3.3028	10.3669	0.44030	0.0:0.078:0.0:0.922	.	105;146	Q9NP50;B7Z287	FA60A_HUMAN;.	C	105;105;146;105;105	ENSP00000337477:S105C;ENSP00000393279:S105C;ENSP00000443881:S105C;ENSP00000437363:S105C	ENSP00000337477:S105C	S	-	1	0	FAM60A	31338048	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.386000	0.44380	0.806000	0.34183	0.459000	0.35465	AGC		0.363	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		A	31446781	T	A	31446781	3	1	340	1	0	0	0	0	1	0	0	0	5595	1609	56	5	364	5	FAM60A	12	31446781	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09		31446781	102405114	65	18369											
ARID2	196528	genome.wustl.edu	37	12	46245723	46245723	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:46245723C>A	ENST00000334344.6	+	15	3989	c.3817C>A	c.(3817-3819)Cga>Aga	p.R1273R	ARID2_ENST00000444670.1_Silent_p.R883R|ARID2_ENST00000422737.1_Silent_p.R1124R|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1273					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCCTGCCGACGAGGAGCCAC	0.428			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0			12											51	51	51					12																	46245723		2203	4300	6503	44531990	SO:0001819	synonymous_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3817C>A	12.37:g.46245723C>A			44531990	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	CCDS31783.1																																																																																				0.428	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		A	46245723	C	A	46245723	2	1	340	1	0	0	0	0	0	0	0	1	915	528	19	3		3	ARID2	12	46245723	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	14798942	46245723	87606172	66	18370											
SILV	6490	genome.wustl.edu	37	12	56350847	56350847	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:56350847T>C	ENST00000548747.1	-	6	1902	c.1240A>G	c.(1240-1242)Aca>Gca	p.T414A	PMEL_ENST00000539511.1_Missense_Mutation_p.T328A|PMEL_ENST00000548493.1_Missense_Mutation_p.T414A|PMEL_ENST00000536427.1_Intron|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000552882.1_Missense_Mutation_p.T414A|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.T414A|PMEL_ENST00000550464.1_Missense_Mutation_p.T328A|PMEL_ENST00000360714.4_Missense_Mutation_p.T414A			P40967	PMEL_HUMAN	premelanosome protein	414	10 X 13 AA approximate tandem repeats, RPT domain.				melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						tgtgcagctgtggttccagaa	0.512																																																0			12											133	115	121					12																	56350847		2203	4300	6503	54637114	SO:0001583	missense	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1240A>G	12.37:g.56350847T>C	ENSP00000448828:p.Thr414Ala		54637114	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236513	0.39498	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000539511	T;T;T;T;T;T;T	0.08282	3.11;3.13;3.14;3.13;3.13;3.11;3.14	5.02	5.02	0.67125	.	0.000000	0.53938	D	0.000051	T	0.09598	0.0236	L	0.27053	0.805	0.31021	N	0.718125	P;D;P	0.53745	0.912;0.962;0.935	P;P;B	0.50896	0.6;0.653;0.428	T	0.07520	-1.0768	10	0.18710	T	0.47	-2.4907	11.702	0.51577	0.0:0.0:0.0:1.0	.	328;414;414	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	A	414;414;328;414;414;414;328	ENSP00000402758:T414A;ENSP00000449690:T414A;ENSP00000450036:T328A;ENSP00000448828:T414A;ENSP00000447374:T414A;ENSP00000353940:T414A;ENSP00000445005:T328A	ENSP00000353940:T414A	T	-	1	0	PMEL	54637114	0.511000	0.26179	0.988000	0.46212	0.234000	0.25298	0.790000	0.26900	2.183000	0.69458	0.533000	0.62120	ACA		0.512	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		C	56350847	T	C	56350847	3	2	340	1	0	0	0	0	1	0	0	0	14325	1696	59	4	769	4	SILV	12	56350847	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	10105124	56350847	77501048	67	18371											
C12orf64	283310	genome.wustl.edu	37	12	80650115	80650115	+	Splice_Site	SNP	A	A	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:80650115A>C	ENST00000547103.1	+	16	1566		c.e16-1		OTOGL_ENST00000458043.2_Splice_Site			Q3ZCN5	OTOGL_HUMAN	otogelin-like						L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTTTTACGCAGAATCTTGGC	0.438																																																0			12											76	67	70					12																	80650115		1852	4104	5956	79174246	SO:0001630	splice_region_variant	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1561-1A>C	12.37:g.80650115A>C			79174246	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	A	13.50	2.255205	0.39896	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5908	0.76526	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOGL	79174246	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	7.411000	0.80078	2.170000	0.68504	0.533000	0.62120	.		0.438	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	Intron	C	80650115	A	C	80650115	5	2	340	1	0	0	0	0	0	0	1	0	1707	202	7	5	1621	5	C12orf64	12	80650115	Splice_Site	SNP	A	TCGA-29-1763-01A-02W-0633-09	24299268	80650115	53201780	68	18372											
SLC6A15	55117	genome.wustl.edu	37	12	85267016	85267016	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:85267016A>C	ENST00000266682.5	-	7	1500	c.959T>G	c.(958-960)tTt>tGt	p.F320C	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.F213C|SLC6A15_ENST00000309283.7_Missense_Mutation_p.F28C	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	320					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GTAGCTTGAAAAGGCAATGAC	0.443																																																0			12											164	157	159					12																	85267016		2203	4300	6503	83791147	SO:0001583	missense	55117			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.959T>G	12.37:g.85267016A>C	ENSP00000266682:p.Phe320Cys		83791147	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.2|26.2	4.716218|4.716218	0.89205|0.89205	.|.	.|.	ENSG00000072041|ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612|ENST00000551388	T;T;T;T|.	0.76060|.	-0.99;-0.99;-0.99;-0.99|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.044876|0.044876	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87188|0.87188	0.6115|0.6115	H|H	0.94808|0.94808	3.585|3.585	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.987;0.992|.	D|D	0.90497|0.90497	0.4471|0.4471	10|7	0.87932|0.87932	D|D	0|0	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	28;320|.	F8WJN6;Q9H2J7|.	.;S6A15_HUMAN|.	C|V	28;320;36;213;28;36|15	ENSP00000311645:F28C;ENSP00000266682:F320C;ENSP00000450145:F213C;ENSP00000449263:F36C|.	ENSP00000266682:F320C|ENSP00000449619:F15V	F|F	-|-	2|1	0|0	SLC6A15|SLC6A15	83791147|83791147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.962000|8.962000	0.93254|0.93254	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.443	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		C	85267016	A	C	85267016	3	2	340	1	0	0	0	0	1	0	0	0	14681	14	1	5	1257	5	SLC6A15	12	85267016	Missense_Mutation	SNP	A	TCGA-29-1763-01A-02W-0633-09	4616901	85267016	48584879	69	18373											
CKAP4	10970	genome.wustl.edu	37	12	106633423	106633423	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:106633423C>A	ENST00000378026.4	-	2	1324	c.1188G>T	c.(1186-1188)tcG>tcT	p.S396S	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	396						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.S396S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CAAAGGCTTCCGAGTGTCTGA	0.637																																																1	Substitution - coding silent(1)	large_intestine(1)	12											54	56	56					12																	106633423		2203	4300	6503	105157553	SO:0001819	synonymous_variant	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1188G>T	12.37:g.106633423C>A			105157553	Q504S5|Q53ES6	Silent	SNP	ENST00000378026.4	37	CCDS9103.1																																																																																				0.637	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			A	106633423	C	A	106633423	2	1	340	1	0	0	0	0	0	0	0	1	3444	639	23	3		3	CKAP4	12	106633423	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	21366407	106633423	27218472	70	18374											
ACACB	32	genome.wustl.edu	37	12	109617851	109617851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:109617851G>T	ENST00000338432.7	+	11	1896	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	ACACB_ENST00000377848.3_Nonsense_Mutation_p.E593*|ACACB_ENST00000377854.5_Nonsense_Mutation_p.E593*			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	593	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCCCTGCACAGAAATGATTGC	0.552																																																0			12											95	86	89					12																	109617851		2203	4300	6503	108102234	SO:0001587	stop_gained	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1777G>T	12.37:g.109617851G>T	ENSP00000341044:p.Glu593*		108102234	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Nonsense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471619	0.96274	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7586	0.88457	0.0:0.0:1.0:0.0	.	.	.	.	X	593	.	ENSP00000341044:E593X	E	+	1	0	ACACB	108102234	1.000000	0.71417	0.944000	0.38274	0.626000	0.37791	9.729000	0.98795	2.193000	0.70182	0.563000	0.77884	GAA		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109617851	G	T	109617851	4	4	340	1	0	0	0	0	0	1	0	0	107	943	33	3	1815	3	ACACB	12	109617851	Nonsense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	2984428	109617851	24234044	71	18375											
PCCA	5095	genome.wustl.edu	37	13	100953816	100953816	+	Missense_Mutation	SNP	C	C	A	rs199969765		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr13:100953816C>A	ENST00000376285.1	+	13	1206	c.1168C>A	c.(1168-1170)Cgc>Agc	p.R390S	PCCA_ENST00000376279.3_Missense_Mutation_p.R390S|PCCA_ENST00000376286.4_Missense_Mutation_p.R364S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	390	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGCTGATATTCGCATCAACGG	0.498																																																0			13											181	163	169					13																	100953816		2203	4300	6503	99751817	SO:0001583	missense	5095			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1168C>A	13.37:g.100953816C>A	ENSP00000365462:p.Arg390Ser		99751817	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776018	0.49786	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97688	-4.49;-4.49;-4.49	5.65	5.65	0.86999	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.099922	0.64402	D	0.000001	D	0.93900	0.8048	N	0.17838	0.53	0.30638	N	0.756718	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.003;0.001	D	0.89583	0.3822	10	0.40728	T	0.16	.	13.3313	0.60488	0.0:0.9278:0.0:0.0722	.	390;364;390	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	S	364;390;390	ENSP00000365463:R364S;ENSP00000365456:R390S;ENSP00000365462:R390S	ENSP00000365456:R390S	R	+	1	0	PCCA	99751817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.864000	0.69575	2.827000	0.97445	0.650000	0.86243	CGC		0.498	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			A	100953816	C	A	100953816	3	1	340	1	0	0	0	0	1	0	0	0	11504	884	31	3	1218	3	PCCA	13	100953816	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09		100953816	14216062	72	18376											
TFDP1	7027	genome.wustl.edu	37	13	114290296	114290296	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr13:114290296T>G	ENST00000375370.5	+	9	904	c.692T>G	c.(691-693)aTt>aGt	p.I231S	TFDP1_ENST00000544902.1_Missense_Mutation_p.I136S|TFDP1_ENST00000538138.1_Missense_Mutation_p.I136S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	231	DCB1.|Dimerization. {ECO:0000255}.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTTTAGCAAATTGCCTTCAAG	0.607										TSP Lung(29;0.18)																																						0			13											41	45	44					13																	114290296		2203	4300	6503	113338297	SO:0001583	missense	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.692T>G	13.37:g.114290296T>G	ENSP00000364519:p.Ile231Ser		113338297	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132668	0.77662	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902;ENST00000408980	T;T;T;T	0.46451	0.87;1.78;0.93;1.31	4.02	4.02	0.46733	Transcription factor DP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.982;0.982;0.989;0.999	T	0.68161	-0.5482	10	0.87932	D	0	.	12.9609	0.58458	0.0:0.0:0.0:1.0	.	136;136;136;231	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	S	136;231;136;231	ENSP00000443878:I136S;ENSP00000364519:I231S;ENSP00000438450:I136S;ENSP00000386145:I231S	ENSP00000364519:I231S	I	+	2	0	TFDP1	113338297	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.208000	0.77907	1.457000	0.47850	0.402000	0.26972	ATT		0.607	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		G	114290296	T	G	114290296	3	3	340	1	0	0	0	0	1	0	0	0	15797	1493	52	5	722	5	TFDP1	13	114290296	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	13336480	114290296	879582	73	18377											
PRKD1	5587	genome.wustl.edu	37	14	30047502	30047502	+	Silent	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr14:30047502G>T	ENST00000331968.5	-	17	2728	c.2499C>A	c.(2497-2499)acC>acA	p.T833T	PRKD1_ENST00000415220.2_Silent_p.T841T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	833	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGTGGCTCAAGGTCTTATCCA	0.323																																																0			14											86	86	86					14																	30047502		2203	4300	6503	29117253	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2499C>A	14.37:g.30047502G>T			29117253	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																				0.323	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		T	30047502	G	T	30047502	2	4	340	1	0	0	0	0	0	0	0	1	12521	987	35	3		3	PRKD1	14	30047502	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09		30047502	77302038	74	18378											
HEATR5A	25938	genome.wustl.edu	37	14	31778258	31778258	+	Silent	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr14:31778258T>C	ENST00000389961.3	-	28	4553	c.4554A>G	c.(4552-4554)gaA>gaG	p.E1518E	HEATR5A_ENST00000439348.1_Silent_p.E1518E|HEATR5A_ENST00000439727.1_Silent_p.E1231E|HEATR5A_ENST00000543095.2_Silent_p.E1524E|AL136418.1_ENST00000582500.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1518										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGATGCTCCTTCATCTGGGT	0.458																																																0			14											207	192	196					14																	31778258		1919	4132	6051	30848009	SO:0001819	synonymous_variant	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4554A>G	14.37:g.31778258T>C			30848009	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37		.	.	.	.	.	.	.	.	.	.	T	9.456	1.091948	0.20471	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.52	0.287	0.15714	.	.	.	.	.	T	0.50786	0.1636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37079	-0.9721	4	.	.	.	.	5.2467	0.15500	0.0:0.3139:0.1449:0.5412	.	.	.	.	R	1152	.	.	K	-	2	0	HEATR5A	30848009	0.997000	0.39634	0.983000	0.44433	0.996000	0.88848	0.355000	0.20163	0.096000	0.17463	0.533000	0.62120	AAG		0.458	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		C	31778258	T	C	31778258	2	2	340	1	0	0	0	0	0	0	0	1	7031	1606	56	4		4	HEATR5A	14	31778258	Silent	SNP	T	TCGA-29-1763-01A-02W-0633-09	1730756	31778258	75571282	75	18379											
BTBD7	55727	genome.wustl.edu	37	14	93709348	93709348	+	Silent	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr14:93709348C>T	ENST00000334746.5	-	11	2977	c.2670G>A	c.(2668-2670)gaG>gaA	p.E890E	BTBD7_ENST00000554565.1_Silent_p.E539E|BTBD7_ENST00000393170.2_Silent_p.E464E	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	890					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CTACAGCAAGCTCTGGAAGCC	0.527																																																0			14											175	162	166					14																	93709348		2203	4300	6503	92779101	SO:0001819	synonymous_variant	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2670G>A	14.37:g.93709348C>T			92779101	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	CCDS32146.1																																																																																				0.527	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		T	93709348	C	T	93709348	2	4	340	1	0	0	0	0	0	0	0	1	1546	796	28	2		2	BTBD7	14	93709348	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	61931090	93709348	13640192	76	18380											
STRA6	64220	genome.wustl.edu	37	15	74488366	74488366	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr15:74488366G>A	ENST00000323940.5	-	5	634	c.389C>T	c.(388-390)gCc>gTc	p.A130V	STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Missense_Mutation_p.A130V|STRA6_ENST00000423167.2_Missense_Mutation_p.A121V|STRA6_ENST00000535552.1_Missense_Mutation_p.A167V|STRA6_ENST00000432245.2_Missense_Mutation_p.A130V|STRA6_ENST00000449139.2_Missense_Mutation_p.A130V|STRA6_ENST00000563965.1_Missense_Mutation_p.A169V|STRA6_ENST00000574278.1_Missense_Mutation_p.A145V|STRA6_ENST00000395105.4_Missense_Mutation_p.A130V	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	130					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGGTGCTGAGGCGAGAGTCAG	0.627																																																0			15											71	58	62					15																	74488366		2198	4297	6495	72275419	SO:0001583	missense	64220			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"retinol binding protein 4 receptor"	610745	"stimulated by retinoic acid gene 6 homolog (mouse)", "stimulated by retinoic acid 6 homolog (mouse)"			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.389C>T	15.37:g.74488366G>A	ENSP00000326085:p.Ala130Val		72275419	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090611	0.36855	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129;ENST00000432245	T;T;T;T;T	0.80566	-1.36;-1.36;-1.39;-1.38;-1.12	5.24	3.21	0.36854	.	0.887861	0.10105	N	0.715474	T	0.72061	0.3414	L	0.48362	1.52	0.09310	N	1	B;B;B;B;B;B	0.33171	0.226;0.226;0.4;0.136;0.136;0.226	B;B;B;B;B;B	0.30029	0.101;0.101;0.11;0.071;0.071;0.101	T	0.59236	-0.7492	10	0.40728	T	0.16	-3.8166	6.7725	0.23601	0.1046:0.1769:0.7185:0.0	.	167;168;130;121;130;169	F5GYI8;B7Z5G7;Q9BX79-2;Q9BX79-3;Q9BX79;Q9BX79-4	.;.;.;.;STRA6_HUMAN;.	V	130;130;62;169;121;167;20;130	ENSP00000378537:A130V;ENSP00000326085:A130V;ENSP00000413012:A121V;ENSP00000440238:A167V;ENSP00000407176:A130V	ENSP00000326085:A130V	A	-	2	0	STRA6	72275419	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.706000	0.25690	0.576000	0.29452	0.655000	0.94253	GCC		0.627	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			A	74488366	G	A	74488366	3	1	340	1	0	0	0	0	1	0	0	0	15324	1203	42	2	1724	2	STRA6	15	74488366	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09		74488366	28043026	77	18381											
SH2D7	646892	genome.wustl.edu	37	15	78390852	78390852	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr15:78390852T>G	ENST00000328828.5	+	4	559	c.559T>G	c.(559-561)Tct>Gct	p.S187A	SH2D7_ENST00000409568.2_Missense_Mutation_p.S51A	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	187										endometrium(2)|kidney(2)|lung(3)	7						CCCCCGCTCTTCTCCAAAGCC	0.612																																																0			15											42	50	48					15																	78390852		1928	4128	6056	76177907	SO:0001583	missense	0				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.559T>G	15.37:g.78390852T>G	ENSP00000327846:p.Ser187Ala		76177907		Missense_Mutation	SNP	ENST00000328828.5	37	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	T	9.439	1.087644	0.20390	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.33438	1.41;1.61	3.94	-6.16	0.02098	.	1.055570	0.07532	N	0.912445	T	0.11665	0.0284	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37033	-0.9723	10	0.05436	T	0.98	2.4401	1.6985	0.02867	0.2686:0.413:0.1587:0.1596	.	187	A6NKC9	SH2D7_HUMAN	A	51;187	ENSP00000386676:S51A;ENSP00000327846:S187A	ENSP00000327846:S187A	S	+	1	0	SH2D7	76177907	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.539000	0.02202	-0.989000	0.03485	0.454000	0.30748	TCT		0.612	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		G	78390852	T	G	78390852	3	3	340	1	0	0	0	0	1	0	0	0	14242	1783	62	5	573	5	SH2D7	15	78390852	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	3902486	78390852	24140540	78	18382											
AKAP13	11214	genome.wustl.edu	37	15	86259070	86259070	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr15:86259070C>T	ENST00000394518.2	+	20	5746	c.5651C>T	c.(5650-5652)aCc>aTc	p.T1884I	AKAP13_ENST00000361243.2_Missense_Mutation_p.T1888I|AKAP13_ENST00000394510.2_Missense_Mutation_p.T129I|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1884					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTGGATGAAACCGCTACCACC	0.522																																					Melanoma(94;603 1453 3280 32295 32951)											0			15											155	122	133					15																	86259070		2202	4299	6501	84060074	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5651C>T	15.37:g.86259070C>T	ENSP00000378026:p.Thr1884Ile		84060074	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012651	0.54468	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.26223	2.83;2.82;1.75	5.2	5.2	0.72013	.	.	.	.	.	T	0.20901	0.0503	L	0.39898	1.24	0.09310	N	1	B;B;B	0.28850	0.007;0.144;0.225	B;B;B	0.27262	0.005;0.035;0.078	T	0.07347	-1.0777	9	0.33141	T	0.24	.	9.1643	0.37041	0.1639:0.6781:0.158:0.0	.	1866;1884;1888	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	I	1888;1884;1887;1865;129	ENSP00000354718:T1888I;ENSP00000378026:T1884I;ENSP00000378018:T129I	ENSP00000354718:T1888I	T	+	2	0	AKAP13	84060074	0.000000	0.05858	0.080000	0.20451	0.727000	0.41649	0.160000	0.16462	2.854000	0.98071	0.655000	0.94253	ACC		0.522	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		T	86259070	C	T	86259070	3	4	340	1	0	0	0	0	1	0	0	0	449	507	18	2	5795	2	AKAP13	15	86259070	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	7868218	86259070	16272322	79	18383											
AEN	64782	genome.wustl.edu	37	15	89172518	89172518	+	Missense_Mutation	SNP	C	C	T	rs368922473		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr15:89172518C>T	ENST00000332810.3	+	3	753	c.602C>T	c.(601-603)gCg>gTg	p.A201V	AEN_ENST00000379231.3_Missense_Mutation_p.A201V	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	201	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GACTTCCAGGCGCTCAAGTAT	0.622																																																0			15						C	VAL/ALA	0,4400		0,0,2200	103	100	101		602	4.5	1	15		101	1,8597	1.2+/-3.3	0,1,4298	no	missense	AEN	NM_022767.3	64	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	201/326	89172518	1,12997	2200	4299	6499	86973522	SO:0001583	missense	64782			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"interferon stimulated exonuclease gene 20kDa-like 1"	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.602C>T	15.37:g.89172518C>T	ENSP00000331944:p.Ala201Val		86973522	C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	ENST00000332810.3	37	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767883	0.69878	0.0	1.16E-4	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.27402	1.67;1.67	5.4	4.48	0.54585	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.64402	D	0.000009	T	0.31857	0.0810	L	0.28504	0.86	0.53688	D	0.999971	D;D	0.58970	0.98;0.984	B;P	0.52454	0.444;0.699	T	0.01468	-1.1347	10	0.35671	T	0.21	-24.2756	12.6249	0.56623	0.0:0.9202:0.0:0.0798	.	201;201	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	V	201	ENSP00000331944:A201V;ENSP00000368533:A201V	ENSP00000331944:A201V	A	+	2	0	AEN	86973522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.707000	0.47143	2.517000	0.84864	0.655000	0.94253	GCG		0.622	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		T	89172518	C	T	89172518	3	4	340	1	0	0	0	0	1	0	0	0	351	768	27	1	608	1	AEN	15	89172518	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	2913448	89172518	13358874	80	18384											
OTOA	146183	genome.wustl.edu	37	16	21734221	21734230	+	Splice_Site	DEL	TTCAGGTTAA	TTCAGGTTAA	-			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	TTCAGGTTAA	TTCAGGTTAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr16:21734221_21734230delTTCAGGTTAA	ENST00000286149.4	+	17	1849_1854	c.1848_1853delTTCAGGTTAA	c.(1846-1854)cattcaggt>cat	p.SG617fs	OTOA_ENST00000388956.4_Splice_Site_p.SG524fs|OTOA_ENST00000388957.3_Splice_Site_p.SG279fs|OTOA_ENST00000388958.3_Splice_Site_p.SG603fs			Q7RTW8	OTOAN_HUMAN	otoancorin	617					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGCTTAATCTTTCAGGTTAATTGTTTGGCG	0.443																																																0			16																																								21641731	SO:0001630	splice_region_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1849-1TTCAGGTTAA>-	16.37:g.21734221_21734230delTTCAGGTTAA			21641722	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Splice_Site	DEL	ENST00000286149.4	37																																																																																					0.443	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		Frame_Shift_Del	-	21734230	TTCAGGTTAA	-	21734221	8	5	340	1	0	1	0	1	0	0	1	0	11302	1856	64	0		0	OTOA	16	21734221	Splice_Site	DEL	TTCAGGTTAA	TCGA-29-1763-01A-02W-0633-09		21734221	68620532	81	18385											
THAP11	57215	genome.wustl.edu	37	16	67876829	67876829	+	Missense_Mutation	SNP	G	G	C	rs199582467|rs376100464		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr16:67876829G>C	ENST00000303596.1	+	1	617	c.372G>C	c.(370-372)caG>caC	p.Q124H	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	124	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcaacagcagcagcagcagc	0.687																																																0			16																																								66434330	SO:0001583	missense	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.372G>C	16.37:g.67876829G>C	ENSP00000304689:p.Gln124His		66434330	A4UCT5|A8K002|O94795	Missense_Mutation	SNP	ENST00000303596.1	37	CCDS10847.1	.	.	.	.	.	.	.	.	.	.	G	0.889	-0.726031	0.03158	.	.	ENSG00000168286	ENST00000303596	T	0.63913	-0.07	4.26	-1.36	0.09085	Armadillo-like helical (1);	0.000000	0.32055	N	0.006647	T	0.45955	0.1368	L	0.49126	1.545	0.09310	N	1	P	0.39576	0.679	B	0.31751	0.135	T	0.40059	-0.9583	10	0.48119	T	0.1	-8.9074	8.6446	0.33998	0.5493:0.0:0.4507:0.0	.	124	Q96EK4	THA11_HUMAN	H	124	ENSP00000304689:Q124H	ENSP00000304689:Q124H	Q	+	3	2	THAP11	66434330	0.015000	0.18098	0.438000	0.26821	0.011000	0.07611	1.203000	0.32284	-0.281000	0.09141	-0.972000	0.02603	CAG		0.687	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		C	67876829	G	C	67876829	3	2	340	1	0	0	0	0	1	0	0	0	15843	962	34	3	374	3	THAP11	16	67876829	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	46142608	67876829	22477924	82	18386											
OR3A2	4995	genome.wustl.edu	37	17	3181659	3181659	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:3181659G>C	ENST00000408891.2	-	1	609	c.571C>G	c.(571-573)Cca>Gca	p.P191A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	191					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						AAGAGCTGTGGGAGGTCACAG	0.542																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)											0			17											72	61	65					17																	3181659		2203	4297	6500	3128409	SO:0001583	missense	4995			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.571C>G	17.37:g.3181659G>C	ENSP00000386180:p.Pro191Ala		3128409	Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263770	0.39995	.	.	ENSG00000221882	ENST00000408891	T	0.00188	8.59	4.9	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000180	T	0.00384	0.0012	M	0.65677	2.01	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.48658	-0.9016	10	0.46703	T	0.11	-19.2455	5.75	0.18142	0.0789:0.137:0.643:0.1412	.	191	P47893	OR3A2_HUMAN	A	191	ENSP00000386180:P191A	ENSP00000386180:P191A	P	-	1	0	OR3A2	3128409	0.056000	0.20664	0.934000	0.37439	0.792000	0.44763	0.558000	0.23469	0.764000	0.33197	-0.254000	0.11334	CCA		0.542	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			C	3181659	G	C	3181659	3	2	340	1	0	0	0	0	1	0	0	0	11038	1232	43	3	398	3	OR3A2	17	3181659	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09		3181659	78013551	83	18387											
ATP2A3	489	genome.wustl.edu	37	17	3851060	3851060	+	Silent	SNP	C	C	G	rs552276386		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:3851060C>G	ENST00000352011.3	-	8	774	c.720G>C	c.(718-720)gcG>gcC	p.A240A	ATP2A3_ENST00000397041.3_Silent_p.A240A|ATP2A3_ENST00000397043.3_Silent_p.A240A|ATP2A3_ENST00000309890.7_Silent_p.A240A|ATP2A3_ENST00000397035.3_Silent_p.A240A|ATP2A3_ENST00000359983.3_Silent_p.A240A|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	240					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTCGACTGCCGCCATCTGGC	0.677																																					GBM(32;29 774 15719 37967)											0			17											27	29	28					17																	3851060		2195	4283	6478	3797809	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.720G>C	17.37:g.3851060C>G			3797809	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																				0.677	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		G	3851060	C	G	3851060	2	3	340	1	0	0	0	0	0	0	0	1	1138	639	23	3		3	ATP2A3	17	3851060	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	669401	3851060	77344150	84	18388											
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	340	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	3727346	7578406	73616804	85	18389											
CHD3	1107	genome.wustl.edu	37	17	7813861	7813861	+	Silent	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:7813861C>T	ENST00000330494.7	+	38	5856	c.5706C>T	c.(5704-5706)agC>agT	p.S1902S	CHD3_ENST00000358181.4_Silent_p.S1868S|AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000380358.4_Silent_p.S1961S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1902	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGAGCGCAGCATCCTCAGCC	0.637																																																0			17											45	50	48					17																	7813861		2203	4300	6503	7754586	SO:0001819	synonymous_variant	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5706C>T	17.37:g.7813861C>T			7754586	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	c	15.73	2.918593	0.52546	.	.	ENSG00000170004	ENST00000439235	.	.	.	4.97	3.97	0.46021	.	.	.	.	.	T	0.30696	0.0773	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13764	-1.0497	5	0.02654	T	1	-6.7308	10.2861	0.43568	0.0:0.8481:0.0:0.1519	.	.	.	.	Y	246	.	ENSP00000395252:H246Y	H	+	1	0	CHD3	7754586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.509000	0.53386	2.586000	0.87340	0.552000	0.68991	CAT		0.637	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		T	7813861	C	T	7813861	2	4	340	1	0	0	0	0	0	0	0	1	3326	709	25	2		2	CHD3	17	7813861	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	235455	7813861	73381349	86	18390											
MYH4	4622	genome.wustl.edu	37	17	10366910	10366910	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:10366910G>A	ENST00000255381.2	-	8	809	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	233	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.F233F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCATTGCCGAAGGCTTCCA	0.423																																																1	Substitution - coding silent(1)	prostate(1)	17											106	103	104					17																	10366910		2203	4300	6503	10307635	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.699C>T	17.37:g.10366910G>A			10307635		Silent	SNP	ENST00000255381.2	37	CCDS11154.1																																																																																				0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10366910	G	A	10366910	2	1	340	1	0	0	0	0	0	0	0	1	10037	1049	37	1		1	MYH4	17	10366910	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	2553049	10366910	70828300	87	18391											
MAPK7	5598	genome.wustl.edu	37	17	19286501	19286501	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:19286501C>A	ENST00000308406.5	+	7	2794	c.2408C>A	c.(2407-2409)tCc>tAc	p.S803Y	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.S664Y|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Missense_Mutation_p.S803Y|MAPK7_ENST00000395604.3_Missense_Mutation_p.S803Y	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	803	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGATGGACTCCCCAATGCTG	0.612																																																0			17											75	68	70					17																	19286501		2203	4300	6503	19227094	SO:0001583	missense	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2408C>A	17.37:g.19286501C>A	ENSP00000311005:p.Ser803Tyr		19227094	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725337	0.89298	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;D;T;T	0.81499	-1.28;-1.5;-1.28;-1.28	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	L	0.55481	1.735	0.47659	D	0.999481	D	0.64830	0.994	P	0.57371	0.819	D	0.86906	0.2057	10	0.87932	D	0	-18.8646	15.6104	0.76713	0.0:1.0:0.0:0.0	.	803	Q13164	MK07_HUMAN	Y	803;664;803;803	ENSP00000311005:S803Y;ENSP00000299612:S664Y;ENSP00000378968:S803Y;ENSP00000378966:S803Y	ENSP00000299612:S664Y	S	+	2	0	MAPK7	19227094	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.922000	0.75811	2.269000	0.75478	0.491000	0.48974	TCC		0.612	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		A	19286501	C	A	19286501	3	1	340	1	0	0	0	0	1	0	0	0	9282	855	30	3	2430	3	MAPK7	17	19286501	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	8919591	19286501	61908709	88	18392											
EIF4A3	9775	genome.wustl.edu	37	17	78112027	78112027	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:78112027C>T	ENST00000269349.3	-	8	1002	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	261	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TTCCACTCTTCCCTCTCCACT	0.463																																																0			17											207	179	188					17																	78112027		2203	4300	6503	75726622	SO:0001583	missense	9775			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"DEAD-boxes"	18683	protein-coding gene	gene with protein product		608546	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48", "eukaryotic translation initiation factor 4A, isoform 3"	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.781G>A	17.37:g.78112027C>T	ENSP00000269349:p.Glu261Lys		75726622	Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850794	0.91277	.	.	ENSG00000141543	ENST00000269349	T	0.05025	3.51	5.12	4.15	0.48705	Helicase, C-terminal (1);	0.097389	0.64402	D	0.000002	T	0.10078	0.0247	L	0.39147	1.195	0.80722	D	1	D	0.53312	0.959	P	0.50192	0.634	T	0.03139	-1.1068	10	0.87932	D	0	-32.3749	11.0005	0.47602	0.0:0.9079:0.0:0.0921	.	261	P38919	IF4A3_HUMAN	K	261	ENSP00000269349:E261K	ENSP00000269349:E261K	E	-	1	0	EIF4A3	75726622	1.000000	0.71417	0.754000	0.31244	0.985000	0.73830	7.300000	0.78841	1.159000	0.42565	0.655000	0.94253	GAA		0.463	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		T	78112027	C	T	78112027	3	4	340	1	0	0	0	0	1	0	0	0	5026	864	30	2	474	2	EIF4A3	17	78112027	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	58825526	78112027	3083183	89	18393											
ANKRD12	23253	genome.wustl.edu	37	18	9255428	9255428	+	Silent	SNP	A	A	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:9255428A>G	ENST00000262126.4	+	9	2403	c.2163A>G	c.(2161-2163)gaA>gaG	p.E721E	ANKRD12_ENST00000400020.3_Silent_p.E698E|ANKRD12_ENST00000383440.2_Silent_p.E698E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	721						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TAACATTAGAAAAAAAATCAA	0.284																																																0			18											28	30	29					18																	9255428		2143	4223	6366	9245428	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2163A>G	18.37:g.9255428A>G			9245428	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	CCDS11843.1																																																																																				0.284	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		G	9255428	A	G	9255428	2	3	340	1	0	0	0	0	0	0	0	1	640	11	1	4		4	ANKRD12	18	9255428	Silent	SNP	A	TCGA-29-1763-01A-02W-0633-09		9255428	68821820	90	18394											
ZNF521	25925	genome.wustl.edu	37	18	22805504	22805504	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:22805504C>G	ENST00000361524.3	-	4	2526	c.2378G>C	c.(2377-2379)gGc>gCc	p.G793A	ZNF521_ENST00000538137.2_Missense_Mutation_p.G793A|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.G573A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	793					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACCTCGGTGCCAAAGGACTC	0.468			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			18											152	134	140					18																	22805504		2203	4300	6503	21059502	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2378G>C	18.37:g.22805504C>G	ENSP00000354794:p.Gly793Ala		21059502	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982877	0.34942	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.39592	1.07;1.07	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.04994	-0.135	0.49213	D	0.999766	B	0.27971	0.196	B	0.27796	0.083	T	0.11108	-1.0601	10	0.15952	T	0.53	-31.6694	20.3539	0.98825	0.0:1.0:0.0:0.0	.	793	Q96K83	ZN521_HUMAN	A	793;827;793	ENSP00000354794:G793A;ENSP00000382352:G793A	ENSP00000354794:G793A	G	-	2	0	ZNF521	21059502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GGC		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		G	22805504	C	G	22805504	3	3	340	1	0	0	0	0	1	0	0	0	17965	739	26	3	1577	3	ZNF521	18	22805504	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	13550076	22805504	55271744	91	18395											
ZNF521	25925	genome.wustl.edu	37	18	22807557	22807557	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:22807557C>G	ENST00000361524.3	-	4	473	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	ZNF521_ENST00000538137.2_Missense_Mutation_p.E109Q|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCTTCTTCCTCTCCAAAATCG	0.517			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			18											79	74	76					18																	22807557		2203	4300	6503	21061555	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.325G>C	18.37:g.22807557C>G	ENSP00000354794:p.Glu109Gln		21061555	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554016	0.45487	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09817	2.94;2.95	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.21427	0.0516	N	0.24115	0.695	0.45883	D	0.998733	D	0.89917	1.0	D	0.85130	0.997	T	0.07385	-1.0775	10	0.14656	T	0.56	-37.2702	20.6593	0.99626	0.0:1.0:0.0:0.0	.	109	Q96K83	ZN521_HUMAN	Q	109;143;109	ENSP00000354794:E109Q;ENSP00000382352:E109Q	ENSP00000354794:E109Q	E	-	1	0	ZNF521	21061555	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAG		0.517	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		G	22807557	C	G	22807557	3	3	340	1	0	0	0	0	1	0	0	0	17965	922	32	3	3630	3	ZNF521	18	22807557	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	2053	22807557	55269691	92	18396											
DSG3	1830	genome.wustl.edu	37	18	29027852	29027852	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:29027852C>A	ENST00000257189.4	+	1	95	c.12C>A	c.(10-12)ctC>ctA	p.L4L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	4					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGATGGGGCTCTTCCCCAGAA	0.478																																																0			18											92	80	84					18																	29027852		2203	4300	6503	27281850	SO:0001819	synonymous_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.12C>A	18.37:g.29027852C>A			27281850	A8K2V2	Silent	SNP	ENST00000257189.4	37	CCDS11898.1																																																																																				0.478	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		A	29027852	C	A	29027852	2	1	340	1	0	0	0	0	0	0	0	1	4778	900	32	3		3	DSG3	18	29027852	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	6220295	29027852	49049396	93	18397											
DTNA	1837	genome.wustl.edu	37	18	32438362	32438362	+	Splice_Site	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:32438362G>T	ENST00000399113.3	+	15	1565	c.1565G>T	c.(1564-1566)aGa>aTa	p.R522I	DTNA_ENST00000601125.1_Splice_Site_p.R144I|DTNA_ENST00000598142.1_Splice_Site_p.R465I|DTNA_ENST00000591182.1_Splice_Site_p.R170I|DTNA_ENST00000556414.3_Splice_Site_p.R174I|DTNA_ENST00000269191.6_Splice_Site_p.R522I|DTNA_ENST00000348997.5_Splice_Site_p.R519I|DTNA_ENST00000444659.1_Splice_Site_p.R522I|DTNA_ENST00000598774.1_Splice_Site_p.R465I|DTNA_ENST00000599844.1_Splice_Site_p.S144I|DTNA_ENST00000399097.3_Splice_Site_p.R170I|DTNA_ENST00000597599.1_Splice_Site_p.R462I|DTNA_ENST00000269190.7_Splice_Site_p.R523I|DTNA_ENST00000399121.5_Splice_Site_p.R462I|DTNA_ENST00000598334.1_Splice_Site_p.R462I|DTNA_ENST00000595022.1_Splice_Site_p.R462I|DTNA_ENST00000597674.1_Splice_Site_p.R144I|DTNA_ENST00000283365.9_Splice_Site_p.R465I|DTNA_ENST00000596745.1_Splice_Site_p.R272I|DTNA_ENST00000269192.7_Splice_Site_p.R231I			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	522					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGGCTCCTCAGGTAGGAGAGA	0.512																																																0			18											49	47	48					18																	32438362		2203	4300	6503	30692360	SO:0001630	splice_region_variant	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1565+1G>T	18.37:g.32438362G>T			30692360	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467098	0.96257	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T	0.55930	0.99;0.49;0.81;0.5;0.78;0.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.996;0.998;0.999;0.997;0.998;0.999;0.999;0.999;0.997;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.988;0.981;0.943;0.997;0.999;0.969;0.983;0.995;0.999;0.983;0.963;0.983;0.991	T	0.76753	-0.2843	10	0.87932	D	0	-10.5603	19.4422	0.94825	0.0:0.0:1.0:0.0	.	174;231;212;272;522;522;462;465;170;519;462;473;465;465	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	I	465;465;462;523;170;519;522;522;522;522;231;170;174	ENSP00000283365:R465I;ENSP00000269190:R523I;ENSP00000336682:R519I;ENSP00000405819:R522I;ENSP00000269191:R522I;ENSP00000382064:R522I	ENSP00000269190:R523I	R	+	2	0	DTNA	30692360	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.612000	0.88384	0.650000	0.86243	AGA		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390	Missense_Mutation	T	32438362	G	T	32438362	5	4	340	1	0	0	0	0	0	0	1	0	4788	1014	35	3	1658	3	DTNA	18	32438362	Splice_Site	SNP	G	TCGA-29-1763-01A-02W-0633-09	3410510	32438362	45638886	94	18398											
FSD1	79187	genome.wustl.edu	37	19	4318405	4318405	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:4318405G>A	ENST00000221856.6	+	9	1009	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.V288M	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	288	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCTCTCCGTGGAGTGGGA	0.627																																																0			19											69	61	63					19																	4318405		2203	4300	6503	4269405	SO:0001583	missense	79187			AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.862G>A	19.37:g.4318405G>A	ENSP00000221856:p.Val288Met		4269405	B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283237	0.95489	.	.	ENSG00000105255	ENST00000221856	T	0.34472	1.36	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.065197	0.64402	D	0.000011	T	0.56601	0.1996	M	0.64170	1.965	0.53005	D	0.999966	D	0.71674	0.998	D	0.64595	0.927	T	0.55952	-0.8059	10	0.54805	T	0.06	.	17.0428	0.86494	0.0:0.0:1.0:0.0	.	288	Q9BTV5	FSD1_HUMAN	M	288	ENSP00000221856:V288M	ENSP00000221856:V288M	V	+	1	0	FSD1	4269405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.675000	0.98638	2.634000	0.89283	0.655000	0.94253	GTG		0.627	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		A	4318405	G	A	4318405	3	1	340	1	0	0	0	0	1	0	0	0	6070	1145	40	1	896	1	FSD1	19	4318405	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09		4318405	54810578	95	18399											
OR7D4	125958	genome.wustl.edu	37	19	9325424	9325424	+	Silent	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:9325424C>G	ENST00000308682.2	-	1	118	c.90G>C	c.(88-90)ctG>ctC	p.L30L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGGACAGGAACAGCCCAAAGA	0.517																																																0			19											72	69	70					19																	9325424		2203	4300	6503	9186424	SO:0001819	synonymous_variant	125958				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.90G>C	19.37:g.9325424C>G			9186424	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	CCDS32901.1																																																																																				0.517	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			G	9325424	C	G	9325424	2	3	340	1	0	0	0	0	0	0	0	1	11220	465	17	3		3	OR7D4	19	9325424	Silent	SNP	C	TCGA-29-1763-01A-02W-0633-09	5007019	9325424	49803559	96	18400											
EPS15L1	58513	genome.wustl.edu	37	19	16545258	16545258	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:16545258A>G	ENST00000248070.6	-	7	555	c.416T>C	c.(415-417)tTg>tCg	p.L139S	EPS15L1_ENST00000597937.1_Missense_Mutation_p.L139S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.L139S|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L139S|EPS15L1_ENST00000535753.2_Missense_Mutation_p.L139S|EPS15L1_ENST00000602009.1_5'UTR	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	139	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATTGATGGGCAAGAGGCTTTC	0.493																																																0			19											155	155	155					19																	16545258		2203	4300	6503	16406258	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.416T>C	19.37:g.16545258A>G	ENSP00000248070:p.Leu139Ser		16406258	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	A	1.781	-0.481877	0.04383	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.27402	1.67;1.67;1.67	4.87	4.87	0.63330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.546827	0.17224	N	0.182212	T	0.09069	0.0224	N	0.00525	-1.395	0.09310	N	1	B;B;B;B;B	0.21688	0.002;0.002;0.059;0.009;0.008	B;B;B;B;B	0.18263	0.01;0.006;0.017;0.021;0.012	T	0.13098	-1.0522	10	0.07325	T	0.83	.	13.6814	0.62487	1.0:0.0:0.0:0.0	.	139;139;139;139;139	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	S	139	ENSP00000393313:L139S;ENSP00000248070:L139S;ENSP00000440103:L139S	ENSP00000248070:L139S	L	-	2	0	EPS15L1	16406258	0.038000	0.19896	0.022000	0.16811	0.967000	0.64934	2.843000	0.48238	1.844000	0.53588	0.383000	0.25322	TTG		0.493	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		G	16545258	A	G	16545258	3	3	340	1	0	0	0	0	1	0	0	0	5193	131	5	4	2246	4	EPS15L1	19	16545258	Missense_Mutation	SNP	A	TCGA-29-1763-01A-02W-0633-09	7219834	16545258	42583725	97	18401											
C19orf2	8725	genome.wustl.edu	37	19	30503229	30503229	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:30503229C>G	ENST00000542441.2	+	10	1513	c.1216C>G	c.(1216-1218)Cgc>Ggc	p.R406G	URI1_ENST00000360605.4_Missense_Mutation_p.R388G|URI1_ENST00000392271.1_Missense_Mutation_p.R330G|URI1_ENST00000312051.6_Missense_Mutation_p.R366G			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	406					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										ATATGTCCCTCGCAAATCCAT	0.403																																																0			19											169	156	161					19																	30503229		2203	4300	6503	35195069	SO:0001583	missense	8725			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1216C>G	19.37:g.30503229C>G	ENSP00000442436:p.Arg406Gly		35195069	A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377508	0.42105	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.60424	0.19	5.54	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	M	0.63843	1.955	0.58432	D	0.999994	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.69307	0.963;0.919;0.919	T	0.74928	-0.3497	10	0.66056	D	0.02	-12.3638	14.2813	0.66213	0.0:0.9285:0.0:0.0715	.	366;406;403	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	G	404;330;406;366	ENSP00000442436:R406G	ENSP00000312530:R366G	R	+	1	0	C19orf2	35195069	1.000000	0.71417	0.993000	0.49108	0.013000	0.08279	4.351000	0.59398	1.348000	0.45733	-0.225000	0.12378	CGC		0.403	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		G	30503229	C	G	30503229	3	3	340	1	0	0	0	0	1	0	0	0	1911	884	31	3	1254	3	C19orf2	19	30503229	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	13957971	30503229	28625754	98	18402											
CATSPERG	57828	genome.wustl.edu	37	19	38860694	38860694	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:38860694G>T	ENST00000409235.3	+	27	3218	c.3103G>T	c.(3103-3105)Gtg>Ttg	p.V1035L	CATSPERG_ENST00000410018.1_Missense_Mutation_p.V995L|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1035					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAAGGTGTTGGTGAGCAATAG	0.562																																																0			19											165	153	157					19																	38860694		2203	4300	6503	43552534	SO:0001583	missense	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3103G>T	19.37:g.38860694G>T	ENSP00000386962:p.Val1035Leu		43552534	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754631	0.69648	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.27890	1.65;1.64	5.9	5.9	0.94986	.	0.000000	0.44902	D	0.000414	T	0.47002	0.1422	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.35992	-0.9766	10	0.66056	D	0.02	-32.3722	15.78	0.78252	0.0:0.0:1.0:0.0	.	1035;995	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	L	995;1035;1035	ENSP00000387057:V995L;ENSP00000386962:V1035L	ENSP00000386962:V1035L	V	+	1	0	CATSPERG	43552534	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.619000	0.67729	2.804000	0.96469	0.549000	0.68633	GTG		0.562	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		T	38860694	G	T	38860694	3	4	340	1	0	0	0	0	1	0	0	0	2692	1261	44	3	3205	3	CATSPERG	19	38860694	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	8357465	38860694	20268289	99	18403											
CYP2B6	1555	genome.wustl.edu	37	19	41509968	41509968	+	Silent	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:41509968G>C	ENST00000324071.4	+	2	241	c.234G>C	c.(232-234)ctG>ctC	p.L78L	CYP2B6_ENST00000593831.1_Silent_p.L2L|CYP2B6_ENST00000330446.5_Silent_p.L38L|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	78					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TGGTCATGCTGTGTGGAGTAG	0.582																																																0			19											75	76	76					19																	41509968		2203	4300	6503	46201808	SO:0001819	synonymous_variant	1555			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.234G>C	19.37:g.41509968G>C			46201808	B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	CCDS12570.1																																																																																				0.582	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		C	41509968	G	C	41509968	2	2	340	1	0	0	0	0	0	0	0	1	4164	1364	48	3		3	CYP2B6	19	41509968	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	2649274	41509968	17619015	100	18404											
CCDC155	147872	genome.wustl.edu	37	19	49920497	49920497	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:49920497G>T	ENST00000447857.3	+	19	1726	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	507						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCTGGGGCCAGCTCTGCCTGC	0.667																																																0			19											23	27	26					19																	49920497		1927	4113	6040	54612309	SO:0001583	missense	147872				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1521G>T	19.37:g.49920497G>T	ENSP00000404220:p.Gln507His		54612309	Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	g	10.34	1.321941	0.23994	.	.	ENSG00000161609	ENST00000447857	T	0.37584	1.19	3.89	-0.915	0.10494	.	0.553031	0.15566	N	0.255707	T	0.31009	0.0783	M	0.72118	2.19	0.21147	N	0.999778	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.34378	-0.9831	10	0.72032	D	0.01	-27.4004	4.1027	0.10020	0.229:0.3904:0.3806:0.0	.	507;507	C9JGW3;Q8N6L0	.;CC155_HUMAN	H	507	ENSP00000404220:Q507H	ENSP00000404220:Q507H	Q	+	3	2	CCDC155	54612309	0.012000	0.17670	0.216000	0.23742	0.731000	0.41821	-0.212000	0.09319	0.046000	0.15833	0.450000	0.29827	CAG		0.667	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		T	49920497	G	T	49920497	3	4	340	1	0	0	0	0	1	0	0	0	2788	962	34	3	1591	3	CCDC155	19	49920497	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	8410529	49920497	9208486	101	18405											
PTPRH	5794	genome.wustl.edu	37	19	55715407	55715407	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:55715407G>T	ENST00000376350.3	-	5	651	c.629C>A	c.(628-630)cCa>cAa	p.P210Q	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	210	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GTTCCTCACTGGGTTGTGAGC	0.507																																																0			19											57	51	53					19																	55715407		2203	4300	6503	60407219	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.629C>A	19.37:g.55715407G>T	ENSP00000365528:p.Pro210Gln		60407219	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576627	0.45902	.	.	ENSG00000080031	ENST00000376350	T	0.58797	0.31	3.59	2.41	0.29592	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70518	0.3233	M	0.72118	2.19	0.09310	N	0.999991	D;D	0.89917	0.999;1.0	D;D	0.83275	0.964;0.996	T	0.55088	-0.8195	9	0.44086	T	0.13	.	8.0931	0.30811	0.0:0.2511:0.7489:0.0	.	32;210	Q9HD43-2;Q9HD43	.;PTPRH_HUMAN	Q	210	ENSP00000365528:P210Q	ENSP00000365528:P210Q	P	-	2	0	PTPRH	60407219	0.008000	0.16893	0.009000	0.14445	0.259000	0.26198	1.494000	0.35616	1.942000	0.56320	0.505000	0.49811	CCA		0.507	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			T	55715407	G	T	55715407	3	4	340	1	0	0	0	0	1	0	0	0	12806	1348	47	3	2782	3	PTPRH	19	55715407	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	5794910	55715407	3413576	102	18406											
RIN2	54453	genome.wustl.edu	37	20	19981350	19981350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr20:19981350C>T	ENST00000255006.6	+	12	2754	c.2605C>T	c.(2605-2607)Cag>Tag	p.Q869*	RIN2_ENST00000440354.2_Nonsense_Mutation_p.Q387*|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	820	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGATGTGTGTCAGATCTGCGC	0.532																																																0			20											129	131	130					20																	19981350		2061	4210	6271	19929350	SO:0001587	stop_gained	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2605C>T	20.37:g.19981350C>T	ENSP00000255006:p.Gln869*		19929350	Q00425|Q5TFT8|Q9BQL3|Q9H071	Nonsense_Mutation	SNP	ENST00000255006.6	37	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	39	7.601418	0.98384	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	.	.	.	5.69	5.69	0.88448	.	0.419985	0.27473	N	0.019204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.3662	19.3957	0.94605	0.0:1.0:0.0:0.0	.	.	.	.	X	869;387	.	.	Q	+	1	0	RIN2	19929350	0.997000	0.39634	1.000000	0.80357	0.951000	0.60555	2.438000	0.44837	2.687000	0.91594	0.462000	0.41574	CAG		0.532	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			T	19981350	C	T	19981350	4	4	340	1	0	0	0	0	0	1	0	0	13375	827	29	2	2500	2	RIN2	20	19981350	Nonsense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09		19981350	43044170	103	18407											
GGT7	2686	genome.wustl.edu	37	20	33440278	33440278	+	Silent	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr20:33440278G>T	ENST00000336431.5	-	11	1427	c.1383C>A	c.(1381-1383)ctC>ctA	p.L461L	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	461					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGACAGGCAGGAGTGGGGCAG	0.582																																																0			20											52	57	55					20																	33440278		2203	4300	6503	32903939	SO:0001819	synonymous_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1383C>A	20.37:g.33440278G>T			32903939	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	CCDS13242.2																																																																																				0.582	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		T	33440278	G	T	33440278	2	4	340	1	0	0	0	0	0	0	0	1	6364	1161	41	3		3	GGT7	20	33440278	Silent	SNP	G	TCGA-29-1763-01A-02W-0633-09	13458928	33440278	29585242	104	18408											
PREX1	57580	genome.wustl.edu	37	20	47269204	47269204	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr20:47269204T>A	ENST00000371941.3	-	21	2409	c.2387A>T	c.(2386-2388)cAg>cTg	p.Q796L	PREX1_ENST00000396220.1_Missense_Mutation_p.Q796L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	796					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCGTGCTTCCTGGGCATCCTC	0.627																																																0			20											76	63	68					20																	47269204		2203	4300	6503	46702611	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2387A>T	20.37:g.47269204T>A	ENSP00000361009:p.Gln796Leu		46702611	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120247	0.77323	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38240	1.15;1.15	4.5	4.5	0.54988	.	0.110766	0.36972	U	0.002307	T	0.29524	0.0736	L	0.27053	0.805	0.35964	D	0.834847	P;P	0.44429	0.616;0.835	B;B	0.41946	0.254;0.371	T	0.46119	-0.9214	10	0.87932	D	0	.	13.8299	0.63373	0.0:0.0:0.0:1.0	.	796;93	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	L	796	ENSP00000361009:Q796L;ENSP00000379522:Q796L	ENSP00000361009:Q796L	Q	-	2	0	PREX1	46702611	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.945000	0.70226	1.667000	0.50832	0.460000	0.39030	CAG		0.627	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47269204	T	A	47269204	3	1	340	1	0	0	0	0	1	0	0	0	12479	1580	55	5	2672	5	PREX1	20	47269204	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09	13828926	47269204	15756316	105	18409											
TRIOBP	11078	genome.wustl.edu	37	22	38120109	38120109	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr22:38120109T>C	ENST00000406386.3	+	7	1801	c.1546T>C	c.(1546-1548)Tcc>Ccc	p.S516P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	516					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCAGAACCTCCTCTCCCAA	0.602																																																0			22											20	34	30					22																	38120109		1757	3951	5708	36450055	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1546T>C	22.37:g.38120109T>C	ENSP00000384312:p.Ser516Pro		36450055	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	13.37	2.216578	0.39201	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.23950	1.88	2.68	1.57	0.23409	.	.	.	.	.	T	0.16727	0.0402	L	0.44542	1.39	0.80722	D	1	B	0.18310	0.027	B	0.12156	0.007	T	0.10359	-1.0633	9	0.33940	T	0.23	.	2.2097	0.03945	0.2523:0.1452:0.0:0.6024	.	516	Q9H2D6	TARA_HUMAN	P	516	ENSP00000384312:S516P	ENSP00000384312:S516P	S	+	1	0	TRIOBP	36450055	0.000000	0.05858	0.930000	0.37139	0.261000	0.26267	0.197000	0.17197	0.259000	0.21709	0.240000	0.17902	TCC		0.602	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			C	38120109	T	C	38120109	3	2	340	1	0	0	0	0	1	0	0	0	16553	1551	54	4	1564	4	TRIOBP	22	38120109	Missense_Mutation	SNP	T	TCGA-29-1763-01A-02W-0633-09		38120109	13184457	106	18410											
CELSR1	9620	genome.wustl.edu	37	22	46772988	46772988	+	Missense_Mutation	SNP	G	G	T	rs116079347	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr22:46772988G>T	ENST00000262738.3	-	24	7553	c.7554C>A	c.(7552-7554)ttC>ttA	p.F2518L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2518					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCCAATCACGAACACCAGCT	0.612													G|||	125	0.0249601	0.09	0.0086	5008	,	,		17992	0		0	False		,,,				2504	0															0			22						G	LEU/PHE	343,4063	177.6+/-206.5	11,321,1871	64	52	56		7554	0.9	0.8	22	dbSNP_132	56	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CELSR1	NM_014246.1	22	11,323,6169	TT,TG,GG		0.0233,7.7848,2.6526	probably-damaging	2518/3015	46772988	345,12661	2203	4300	6503	45151652	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7554C>A	22.37:g.46772988G>T	ENSP00000262738:p.Phe2518Leu		45151652	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846401	0.51164	0.077848	2.33E-4	ENSG00000075275	ENST00000262738	T	0.44482	0.92	4.67	0.883	0.19177	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000001	T	0.07369	0.0186	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.991	T	0.20306	-1.0279	10	0.72032	D	0.01	.	8.7801	0.34787	0.3752:0.0:0.6248:0.0	.	839;2518	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	2518	ENSP00000262738:F2518L	ENSP00000262738:F2518L	F	-	3	2	CELSR1	45151652	0.999000	0.42202	0.836000	0.33094	0.078000	0.17371	0.424000	0.21330	0.423000	0.26033	-0.350000	0.07774	TTC		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46772988	G	T	46772988	3	4	340	1	0	0	0	0	1	0	0	0	3221	1049	37	3	1538	3	CELSR1	22	46772988	Missense_Mutation	SNP	G	TCGA-29-1763-01A-02W-0633-09	8652879	46772988	4531578	107	18411											
CPT1B	1375	genome.wustl.edu	37	22	51012936	51012936	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr22:51012936C>G	ENST00000360719.2	-	8	1008	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	CPT1B_ENST00000312108.7_Missense_Mutation_p.E291Q|CPT1B_ENST00000405237.3_Missense_Mutation_p.E291Q|CPT1B_ENST00000395650.2_Missense_Mutation_p.E291Q|CPT1B_ENST00000440709.1_Missense_Mutation_p.E291Q|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.E257Q|CPT1B_ENST00000434492.2_Missense_Mutation_p.E88Q	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	291					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TTGATTTCTTCACGGTCCAGT	0.557																																					Esophageal Squamous(170;988 1933 25577 30295 48163)											0			22											203	166	178					22																	51012936		2203	4300	6503	49359802	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.871G>C	22.37:g.51012936C>G	ENSP00000353945:p.Glu291Gln		49359802	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652175	0.29336	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-1.51;-2.65;-1.51;-2.65	4.81	4.81	0.61882	.	0.051897	0.85682	D	0.000000	D	0.90943	0.7153	L	0.42632	1.34	0.46542	D	0.999098	D;B;B;P	0.65815	0.995;0.036;0.432;0.549	D;B;P;B	0.62955	0.909;0.204;0.491;0.34	D	0.86950	0.2085	10	0.06236	T	0.91	-18.6899	15.3912	0.74744	0.0:1.0:0.0:0.0	.	291;257;88;291	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	Q	291;291;291;257;291;88;291	ENSP00000385486:E291Q;ENSP00000312189:E291Q;ENSP00000353945:E291Q;ENSP00000409342:E257Q;ENSP00000414713:E291Q;ENSP00000410966:E88Q;ENSP00000379011:E291Q	ENSP00000312189:E291Q	E	-	1	0	CPT1B	49359802	0.737000	0.28175	0.995000	0.50966	0.905000	0.53344	2.729000	0.47327	2.503000	0.84419	0.561000	0.74099	GAA		0.557	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		G	51012936	C	G	51012936	3	3	340	1	0	0	0	0	1	0	0	0	3832	835	29	3	1495	3	CPT1B	22	51012936	Missense_Mutation	SNP	C	TCGA-29-1763-01A-02W-0633-09	4239948	51012936	291630	108	18412											
MAPK8IP2	23542	genome.wustl.edu	37	22	51041695	51041717	+	Frame_Shift_Del	DEL	GCTCCTTCCAGGATGACTTCCAG	GCTCCTTCCAGGATGACTTCCAG	-	rs561923174|rs537375229	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	GCTCCTTCCAGGATGACTTCCAG	GCTCCTTCCAGGATGACTTCCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr22:51041695_51041717delGCTCCTTCCAGGATGACTTCCAG	ENST00000329492.3	+	3	332_354	c.215_237delGCTCCTTCCAGGATGACTTCCAG	c.(214-237)tgctccttccaggatgacttccagfs	p.CSFQDDFQ72fs	MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.CSFQDDFQ72fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.CSFQDDFQ72fs|MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.CSFQDDFQ45fs|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000399912.1_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	72					behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACCCCATCTGCTCCTTCCAGGATGACTTCCAGGAGTTTGAGA	0.632																																																0			22																																								49388583	SO:0001589	frameshift_variant	23542			AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.215_237delGCTCCTTCCAGGATGACTTCCAG	22.37:g.51041695_51041717delGCTCCTTCCAGGATGACTTCCAG	ENSP00000330572:p.Cys72fs		49388561	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Frame_Shift_Del	DEL	ENST00000329492.3	37																																																																																					0.632	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012324		-	51041717	GCTCCTTCCAGGATGACTTCCAG	-	51041695	7	5	340	1	0	1	0	1	0	0	0	0	9285	1319	46	0	315	0	MAPK8IP2	22	51041695	Frame_Shift_Del	DEL	GCTCCTTCCAGGATGACTTCCAG	TCGA-29-1763-01A-02W-0633-09	28759	51041695	262871	109	18413											
RGAG1	57529	genome.wustl.edu	37	X	109696287	109696287	+	Silent	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chrX:109696287T>C	ENST00000465301.2	+	3	2688	c.2442T>C	c.(2440-2442)gcT>gcC	p.A814A	RGAG1_ENST00000540313.1_Silent_p.A814A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	814										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATCCCCAGCTTATGGAGCCA	0.532																																																0			X											100	96	97					X																	109696287		2203	4300	6503	109582943	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2442T>C	X.37:g.109696287T>C			109582943	Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																				0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		C	109696287	T	C	109696287	2	2	340	1	0	0	0	0	0	0	0	1	13277	1596	56	4		4	RGAG1	23	109696287	Silent	SNP	T	TCGA-29-1763-01A-02W-0633-09		109696287	45574273	110	18414											
ZCCHC12	170261	genome.wustl.edu	37	X	117960206	117960250	+	In_Frame_Del	DEL	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	-	rs201023696|rs370321809		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chrX:117960206_117960250delGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	ENST00000310164.2	+	4	1506_1550	c.999_1043delGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	c.(997-1044)ggggagatgcgtagagccaggaagcgaaaacacacaatccgctgttcg>ggg	p.EMRRARKRKHTIRCS334del		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	334					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R346L(1)|p.R346S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ACGGTCCTGGGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTCGTATTGTGGT	0.506																																																2	Substitution - Missense(2)	lung(2)	X	GRCh37	CM085768	ZCCHC12	M																																				117844278	SO:0001651	inframe_deletion	170261			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.999_1043delGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	X.37:g.117960206_117960250delGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	ENSP00000308921:p.Glu334_Ser348del		117844234	B3KV48|Q6PID5|Q8N1C1	In_Frame_Del	DEL	ENST00000310164.2	37	CCDS14574.1																																																																																				0.506	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		-	117960250	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	-	117960206	7	5	340	1	0	1	0	1	0	0	0	0	17581	1219	43	0	1001	0	ZCCHC12	23	117960206	In_Frame_Del	DEL	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	TCGA-29-1763-01A-02W-0633-09	8263919	117960206	37310354	111	18415											
HSPG2	3339	genome.wustl.edu	37	1	22211867	22211867	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:22211867A>C	ENST00000374695.3	-	10	1235	c.1156T>G	c.(1156-1158)Ttc>Gtc	p.F386V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	386	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCACAGTGGAAGCTGGCTGGG	0.627																																																0			1											112	94	100					1																	22211867		2203	4300	6503	22084454	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1156T>G	1.37:g.22211867A>C	ENSP00000363827:p.Phe386Val		22084454	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447455	0.84101	.	.	ENSG00000142798	ENST00000374695	D	0.95342	-3.68	5.1	5.1	0.69264	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.176164	0.27518	N	0.019012	D	0.93051	0.7788	L	0.48642	1.525	0.36552	D	0.871897	P	0.47484	0.896	P	0.46510	0.519	D	0.95278	0.8383	10	0.87932	D	0	.	12.8396	0.57793	1.0:0.0:0.0:0.0	.	386	P98160	PGBM_HUMAN	V	386	ENSP00000363827:F386V	ENSP00000363827:F386V	F	-	1	0	HSPG2	22084454	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.952000	0.93031	1.929000	0.55896	0.459000	0.35465	TTC		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		C	22211867	A	C	22211867	3	2	341	1	0	0	0	0	1	0	0	0	7430	72	3	5	12371	5	HSPG2	1	22211867	Missense_Mutation	SNP	A	TCGA-29-1764-01A-01W-0633-09		22211867	227038754	1	18416											
E2F2	1870	genome.wustl.edu	37	1	23836565	23836565	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:23836565A>T	ENST00000361729.2	-	7	1547	c.1121T>A	c.(1120-1122)cTg>cAg	p.L374Q		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	374	Transactivation. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAGCTCCAGCAGGCTGTCAGT	0.642																																																0			1											24	24	24					1																	23836565		2203	4300	6503	23709152	SO:0001583	missense	1870			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.1121T>A	1.37:g.23836565A>T	ENSP00000355249:p.Leu374Gln		23709152	B2R9W1|Q7Z6H1	Missense_Mutation	SNP	ENST00000361729.2	37	CCDS236.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.954516	0.53293	.	.	ENSG00000007968	ENST00000361729	T	0.10668	2.85	4.99	4.99	0.66335	.	0.146332	0.48767	D	0.000162	T	0.08268	0.0206	N	0.19112	0.55	0.21147	N	0.99977	B	0.32693	0.38	B	0.35607	0.206	T	0.32955	-0.9887	10	0.29301	T	0.29	-28.0824	11.3453	0.49556	1.0:0.0:0.0:0.0	.	374	Q14209	E2F2_HUMAN	Q	374	ENSP00000355249:L374Q	ENSP00000355249:L374Q	L	-	2	0	E2F2	23709152	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	6.197000	0.72100	2.007000	0.58848	0.459000	0.35465	CTG		0.642	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091		T	23836565	A	T	23836565	3	4	341	1	0	0	0	0	1	0	0	0	4867	188	7	5	196	5	E2F2	1	23836565	Missense_Mutation	SNP	A	TCGA-29-1764-01A-01W-0633-09	1624698	23836565	225414056	2	18417											
CYP4A11	1579	genome.wustl.edu	37	1	47403798	47403798	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:47403798G>C	ENST00000310638.4	-	2	238	c.207C>G	c.(205-207)gaC>gaG	p.D69E	CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D69E|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D69E|CYP4A11_ENST00000462347.1_Missense_Mutation_p.D69E	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	69					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GTAGCTCCTGGTCCTGTTGGA	0.502																																																0			1											186	148	161					1																	47403798		2203	4300	6503	47176385	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.207C>G	1.37:g.47403798G>C	ENSP00000311095:p.Asp69Glu		47176385	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	6.841	0.524410	0.13066	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.67865	-0.29;-0.29;-0.29	5.21	-1.01	0.10169	.	0.593369	0.17674	N	0.165871	T	0.30696	0.0773	N	0.02973	-0.45	0.09310	N	0.999998	B	0.06786	0.001	B	0.15484	0.013	T	0.11275	-1.0594	10	0.22706	T	0.39	.	1.3363	0.02145	0.2832:0.2753:0.3117:0.1298	.	69	Q02928	CP4AB_HUMAN	E	69	ENSP00000311095:D69E;ENSP00000360971:D69E;ENSP00000360972:D69E	ENSP00000311095:D69E	D	-	3	2	CYP4A11	47176385	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-3.352000	0.00501	-0.103000	0.12175	0.552000	0.68991	GAC		0.502	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		C	47403798	G	C	47403798	3	2	341	1	0	0	0	0	1	0	0	0	4183	1252	44	3	1396	3	CYP4A11	1	47403798	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	23567233	47403798	201846823	3	18418											
CC2D1B	200014	genome.wustl.edu	37	1	52824929	52824929	+	Silent	SNP	T	T	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:52824929T>G	ENST00000371586.2	-	10	1257	c.1119A>C	c.(1117-1119)gcA>gcC	p.A373A	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.A373A	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	373						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)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TACCTGGGGTTGCTGGGACGT	0.622																																																0			1											40	44	43					1																	52824929		2203	4300	6503	52597517	SO:0001819	synonymous_variant	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.1119A>C	1.37:g.52824929T>G			52597517	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	ENST00000371586.2	37	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	T	3.435	-0.115284	0.06881	.	.	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	4.3	-2.8	0.05823	.	.	.	.	.	T	0.30603	0.0770	.	.	.	0.34249	D	0.67857	.	.	.	.	.	.	T	0.41124	-0.9526	4	.	.	.	0.0685	0.9389	0.01351	0.161:0.3095:0.1779:0.3516	.	.	.	.	P	160;293	.	.	Q	-	2	0	CC2D1B	52597517	0.181000	0.23161	0.262000	0.24481	0.489000	0.33432	-0.150000	0.10189	-0.249000	0.09569	0.529000	0.55759	CAA		0.622	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		G	52824929	T	G	52824929	2	3	341	1	0	0	0	0	0	0	0	1	2727	1799	63	5		5	CC2D1B	1	52824929	Silent	SNP	T	TCGA-29-1764-01A-01W-0633-09	5421131	52824929	196425692	4	18419											
DNAJC6	9829	genome.wustl.edu	37	1	65830389	65830389	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:65830389A>G	ENST00000395325.3	+	2	251	c.94A>G	c.(94-96)Agg>Ggg	p.R32G	DNAJC6_ENST00000371069.4_Missense_Mutation_p.R89G|DNAJC6_ENST00000263441.7_Missense_Mutation_p.R19G	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	32					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGGTGCAGGGAGGCTCTTTAG	0.448																																																0			1											129	120	123					1																	65830389		2203	4300	6503	65602977	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.94A>G	1.37:g.65830389A>G	ENSP00000378735:p.Arg32Gly		65602977	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.474970	0.63737	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93426	-3.22;-3.2;-3.21	5.63	0.0371	0.14195	.	0.109102	0.64402	D	0.000007	D	0.91287	0.7253	L	0.54323	1.7	0.36873	D	0.889019	P;P;P	0.52316	0.917;0.761;0.952	P;B;P	0.52481	0.62;0.366;0.7	D	0.90895	0.4764	10	0.66056	D	0.02	.	15.5318	0.75970	0.413:0.587:0.0:0.0	.	89;32;19	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	G	19;32;89	ENSP00000263441:R19G;ENSP00000378735:R32G;ENSP00000360108:R89G	ENSP00000263441:R19G	R	+	1	2	DNAJC6	65602977	0.852000	0.29690	0.980000	0.43619	0.965000	0.64279	1.225000	0.32551	0.385000	0.24970	0.528000	0.53228	AGG		0.448	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			G	65830389	A	G	65830389	3	3	341	1	0	0	0	0	1	0	0	0	4653	295	11	4	100	4	DNAJC6	1	65830389	Missense_Mutation	SNP	A	TCGA-29-1764-01A-01W-0633-09	13005460	65830389	183420232	5	18420											
AK5	26289	genome.wustl.edu	37	1	77883396	77883396	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:77883396A>G	ENST00000354567.2	+	8	1318	c.1055A>G	c.(1054-1056)gAt>gGt	p.D352G	RNU7-8P_ENST00000515958.1_RNA|AK5_ENST00000344720.5_Missense_Mutation_p.D326G	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	352					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GATTATGAAGATCAGGTAATT	0.289																																																0			1											84	80	81					1																	77883396		2203	4300	6503	77655984	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1055A>G	1.37:g.77883396A>G	ENSP00000346577:p.Asp352Gly		77655984	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433631	0.43224	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.71341	-0.56;-0.56	4.99	4.99	0.66335	.	0.203340	0.40818	N	0.001016	T	0.40040	0.1101	N	0.24115	0.695	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.34650	-0.9820	10	0.17832	T	0.49	-3.7103	14.3567	0.66742	1.0:0.0:0.0:0.0	.	352	Q9Y6K8	KAD5_HUMAN	G	352;326	ENSP00000346577:D352G;ENSP00000341430:D326G	ENSP00000341430:D326G	D	+	2	0	AK5	77655984	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.728000	0.68531	2.183000	0.69458	0.533000	0.62120	GAT		0.289	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		G	77883396	A	G	77883396	3	3	341	1	0	0	0	0	1	0	0	0	443	333	12	4	1085	4	AK5	1	77883396	Missense_Mutation	SNP	A	TCGA-29-1764-01A-01W-0633-09	12053007	77883396	171367225	6	18421											
ANKRD35	148741	genome.wustl.edu	37	1	145562132	145562132	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:145562132G>A	ENST00000355594.4	+	10	1907	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	607										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTAGGAGGCCTGGCAAAG	0.592																																					Melanoma(9;127 754 22988 51047)											0			1											37	45	43					1																	145562132		2203	4300	6503	144273489	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1820G>A	1.37:g.145562132G>A	ENSP00000347802:p.Gly607Asp		144273489	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511723	0.44660	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.47177	0.85	4.8	2.78	0.32641	.	0.000000	0.38492	N	0.001680	T	0.26376	0.0644	M	0.68317	2.08	0.23813	N	0.99678	P	0.38195	0.622	B	0.38106	0.265	T	0.06881	-1.0802	10	0.46703	T	0.11	-3.8566	7.9385	0.29944	0.0:0.1747:0.6448:0.1805	.	607	Q8N283	ANR35_HUMAN	D	516;607	ENSP00000347802:G607D	ENSP00000347802:G607D	G	+	2	0	ANKRD35	144273489	0.002000	0.14202	0.447000	0.26932	0.962000	0.63368	0.778000	0.26732	0.981000	0.38548	0.655000	0.94253	GGC		0.592	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145562132	G	A	145562132	3	1	341	1	0	0	0	0	1	0	0	0	664	1203	42	2	1858	2	ANKRD35	1	145562132	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	67678736	145562132	103688489	7	18422											
BCL9	607	genome.wustl.edu	37	1	147084918	147084918	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:147084918G>C	ENST00000234739.3	+	5	1030	c.290G>C	c.(289-291)gGg>gCg	p.G97A	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	97					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAGGGCAAGGGGAAAAGGGAG	0.527			T	"IGH@, IGL@"	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0			1											48	53	51					1																	147084918		2203	4300	6503	145551542	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.290G>C	1.37:g.147084918G>C	ENSP00000234739:p.Gly97Ala		145551542	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006463	0.74932	.	.	ENSG00000116128	ENST00000234739	T	0.52295	0.67	5.4	5.4	0.78164	.	0.128971	0.53938	D	0.000060	T	0.14743	0.0356	N	0.11427	0.14	0.38267	D	0.942048	P	0.42692	0.787	B	0.38880	0.284	T	0.11792	-1.0573	10	0.05833	T	0.94	-7.9943	19.3659	0.94461	0.0:0.0:1.0:0.0	.	97	O00512	BCL9_HUMAN	A	97	ENSP00000234739:G97A	ENSP00000234739:G97A	G	+	2	0	BCL9	145551542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.113000	0.50376	2.797000	0.96272	0.655000	0.94253	GGG		0.527	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		C	147084918	G	C	147084918	3	2	341	1	0	0	0	0	1	0	0	0	1381	1232	43	3	296	3	BCL9	1	147084918	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	1522786	147084918	102165703	8	18423											
FAM129A	116496	genome.wustl.edu	37	1	184764911	184764911	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:184764911G>T	ENST00000367511.3	-	14	2180	c.1987C>A	c.(1987-1989)Ccc>Acc	p.P663T	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	663					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCACCACGGGGTCATCCACT	0.577																																																0			1											70	63	65					1																	184764911		2203	4300	6503	183031534	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1987C>A	1.37:g.184764911G>T	ENSP00000356481:p.Pro663Thr		183031534	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161203	0.21538	.	.	ENSG00000135842	ENST00000367511	T	0.10288	2.89	5.11	1.53	0.23141	.	1.778200	0.02578	N	0.098531	T	0.10294	0.0252	L	0.32530	0.975	0.09310	N	1	B	0.22414	0.069	B	0.21360	0.034	T	0.31752	-0.9932	10	0.44086	T	0.13	-2.3423	5.564	0.17160	0.2106:0.15:0.6395:0.0	.	663	Q9BZQ8	NIBAN_HUMAN	T	663	ENSP00000356481:P663T	ENSP00000356481:P663T	P	-	1	0	FAM129A	183031534	0.005000	0.15991	0.012000	0.15200	0.008000	0.06430	1.124000	0.31320	0.016000	0.14998	0.491000	0.48974	CCC		0.577	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			T	184764911	G	T	184764911	3	4	341	1	0	0	0	0	1	0	0	0	5436	1232	43	3	803	3	FAM129A	1	184764911	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	37679993	184764911	64485710	9	18424											
TROVE2	6738	genome.wustl.edu	37	1	193038386	193038386	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:193038386G>A	ENST00000367446.3	+	2	412	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	TROVE2_ENST00000400968.2_Missense_Mutation_p.G68S|TROVE2_ENST00000367445.3_Missense_Mutation_p.G68S|TROVE2_ENST00000367443.1_Missense_Mutation_p.G68S|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.G68S|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Missense_Mutation_p.G68S	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	68	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GATTGAAGATGGCAGAGGATG	0.398																																																0			1											63	58	60					1																	193038386		1893	4125	6018	191305009	SO:0001583	missense	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.202G>A	1.37:g.193038386G>A	ENSP00000356416:p.Gly68Ser		191305009	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097262	0.94197	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.6	5.6	0.85130	TROVE (2);	0.051977	0.85682	D	0.000000	T	0.39784	0.1091	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.999	D;D;D;D	0.80764	0.983;0.983;0.99;0.994	T	0.42899	-0.9424	10	0.06494	T	0.89	-0.2875	19.6091	0.95594	0.0:0.0:1.0:0.0	.	68;68;68;68	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	S	68;68;68;68;68;68;9	ENSP00000383752:G68S;ENSP00000356416:G68S;ENSP00000356413:G68S;ENSP00000356415:G68S;ENSP00000356414:G68S;ENSP00000356411:G68S;ENSP00000424612:G9S	ENSP00000356411:G68S	G	+	1	0	TROVE2	191305009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.648000	0.89879	0.557000	0.71058	GGC		0.398	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		A	193038386	G	A	193038386	3	1	341	1	0	0	0	0	1	0	0	0	16576	1348	47	2	204	2	TROVE2	1	193038386	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	8273475	193038386	56212235	10	18425											
SERTAD4	56256	genome.wustl.edu	37	1	210414946	210414946	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr1:210414946C>A	ENST00000367012.3	+	4	565	c.335C>A	c.(334-336)tCc>tAc	p.S112Y	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	112	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CTTTATATGTCCTTAGAAAAG	0.338																																																0			1											76	80	79					1																	210414946		2203	4300	6503	208481569	SO:0001583	missense	56256			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.335C>A	1.37:g.210414946C>A	ENSP00000355979:p.Ser112Tyr		208481569	B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266690	0.59540	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	L	0.61218	1.895	0.50632	D	0.999883	D	0.76494	0.999	D	0.87578	0.998	T	0.79683	-0.1701	9	0.87932	D	0	-28.4208	19.756	0.96291	0.0:1.0:0.0:0.0	.	112	Q9NUC0	SRTD4_HUMAN	Y	112	.	ENSP00000355979:S112Y	S	+	2	0	SERTAD4	208481569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.251000	0.72441	2.665000	0.90641	0.655000	0.94253	TCC		0.338	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		A	210414946	C	A	210414946	3	1	341	1	0	0	0	0	1	0	0	0	14126	855	30	3	345	3	SERTAD4	1	210414946	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	17376560	210414946	38835675	11	18426											
APOB	338	genome.wustl.edu	37	2	21231953	21231953	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:21231953G>C	ENST00000233242.1	-	26	7914	c.7787C>G	c.(7786-7788)aCc>aGc	p.T2596S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2596					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGGCATGGTCCCAAGGAT	0.443																																																0			2											97	91	93					2																	21231953		2203	4300	6503	21085458	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7787C>G	2.37:g.21231953G>C	ENSP00000233242:p.Thr2596Ser		21085458	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	3.845	-0.033083	0.07543	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00856	5.61	5.16	3.36	0.38483	.	0.334904	0.25288	N	0.031757	T	0.01454	0.0047	M	0.66939	2.045	0.18873	N	0.999987	B	0.26195	0.144	B	0.24394	0.053	T	0.41034	-0.9531	10	0.62326	D	0.03	.	7.3263	0.26557	0.1455:0.0:0.7182:0.1363	.	2596	P04114	APOB_HUMAN	S	2596	ENSP00000233242:T2596S	ENSP00000233242:T2596S	T	-	2	0	APOB	21085458	0.948000	0.32251	0.759000	0.31340	0.017000	0.09413	1.694000	0.37752	0.577000	0.29470	-0.258000	0.10820	ACC		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21231953	G	C	21231953	3	2	341	1	0	0	0	0	1	0	0	0	785	1261	44	3	5920	3	APOB	2	21231953	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09		21231953	221967420	12	18427											
ASXL2	55252	genome.wustl.edu	37	2	25973249	25973249	+	Silent	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:25973249C>T	ENST00000435504.4	-	12	1469	c.1176G>A	c.(1174-1176)ttG>ttA	p.L392L	ASXL2_ENST00000272341.4_Silent_p.L132L|ASXL2_ENST00000404843.1_Silent_p.L132L|ASXL2_ENST00000336112.4_Silent_p.L364L			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	392					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAAGCTGTCAATTTCTTAG	0.403																																																0			2											155	150	151					2																	25973249		1827	4080	5907	25826753	SO:0001819	synonymous_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1176G>A	2.37:g.25973249C>T			25826753	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37																																																																																					0.403	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		T	25973249	C	T	25973249	2	4	341	1	0	0	0	0	0	0	0	1	1067	825	29	2		2	ASXL2	2	25973249	Silent	SNP	C	TCGA-29-1764-01A-01W-0633-09	4741296	25973249	217226124	13	18428											
FSHR	2492	genome.wustl.edu	37	2	49381479	49381479	+	Silent	SNP	A	A	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:49381479A>T	ENST00000406846.2	-	1	197	c.78T>A	c.(76-78)tcT>tcA	p.S26S	FSHR_ENST00000346173.3_Silent_p.S26S|FSHR_ENST00000304421.4_Silent_p.S26S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	26	LRRNT.				female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAACCCTGTTAGAGCAGTGAC	0.507									Gonadal Dysgenesis, 46 XX																																							0			2											76	78	77					2																	49381479		2203	4300	6503	49234983	SO:0001819	synonymous_variant	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.78T>A	2.37:g.49381479A>T			49234983	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	CCDS1843.1																																																																																				0.507	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			T	49381479	A	T	49381479	2	4	341	1	0	0	0	0	0	0	0	1	6073	407	15	5		5	FSHR	2	49381479	Silent	SNP	A	TCGA-29-1764-01A-01W-0633-09	23408230	49381479	193817894	14	18429											
LY75	4065	genome.wustl.edu	37	2	160708840	160708840	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:160708840G>C	ENST00000263636.4	-	21	2782	c.2755C>G	c.(2755-2757)Cca>Gca	p.P919A	LY75_ENST00000554112.1_Missense_Mutation_p.P919A|LY75_ENST00000553424.1_Missense_Mutation_p.P919A|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P919A|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P919A	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	919	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAGTCTGTTGGTTTACCTAAG	0.333																																																0			2											78	80	80					2																	160708840		2203	4300	6503	160417086	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2755C>G	2.37:g.160708840G>C	ENSP00000263636:p.Pro919Ala		160417086	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116823	0.37339	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23	5.12	4.18	0.49190	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.300312	0.18109	U	0.151439	T	0.10294	0.0252	M	0.65975	2.015	0.26185	N	0.979678	P;P;P	0.46142	0.787;0.495;0.873	B;B;B	0.39258	0.295;0.115;0.291	T	0.17653	-1.0362	10	0.34782	T	0.22	-2.8865	10.3773	0.44090	0.0:0.0:0.8045:0.1955	.	919;919;919	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	A	919	ENSP00000451511:P919A;ENSP00000451446:P919A;ENSP00000263636:P919A;ENSP00000423463:P919A;ENSP00000421035:P919A	ENSP00000423463:P919A	P	-	1	0	LY75;LY75-CD302	160417086	0.994000	0.37717	1.000000	0.80357	0.801000	0.45260	2.605000	0.46283	2.546000	0.85860	0.585000	0.79938	CCA		0.333	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			C	160708840	G	C	160708840	3	2	341	1	0	0	0	0	1	0	0	0	9099	1261	44	3	2473	3	LY75	2	160708840	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	111327361	160708840	82490533	15	18430											
PLEKHA3	65977	genome.wustl.edu	37	2	179368485	179368485	+	Splice_Site	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:179368485A>G	ENST00000234453.5	+	8	1177		c.e8-1			NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			ATGTCTTCATAGGACCTGTTC	0.358																																																0			2											84	84	84					2																	179368485		2203	4300	6503	179076731	SO:0001630	splice_region_variant	65977			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.776-1A>G	2.37:g.179368485A>G			179076731	Q4ZG69|Q86TQ1|Q9NXT3	Splice_Site	SNP	ENST00000234453.5	37	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305100	0.40795	.	.	ENSG00000116095	ENST00000234453	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHA3	179076731	1.000000	0.71417	0.972000	0.41901	0.620000	0.37586	6.215000	0.72206	2.279000	0.76181	0.533000	0.62120	.		0.358	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	Intron	G	179368485	A	G	179368485	5	3	341	1	0	0	0	0	0	0	1	0	12057	434	15	4	804	4	PLEKHA3	2	179368485	Splice_Site	SNP	A	TCGA-29-1764-01A-01W-0633-09	18659645	179368485	63830888	16	18431											
FN1	2335	genome.wustl.edu	37	2	216273075	216273075	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr2:216273075G>C	ENST00000359671.1	-	16	2639	c.2374C>G	c.(2374-2376)Cag>Gag	p.Q792E	FN1_ENST00000357867.4_Missense_Mutation_p.Q792E|FN1_ENST00000356005.4_Missense_Mutation_p.Q792E|FN1_ENST00000354785.4_Missense_Mutation_p.Q792E|FN1_ENST00000432072.2_Missense_Mutation_p.Q792E|FN1_ENST00000346544.3_Missense_Mutation_p.Q792E|FN1_ENST00000345488.5_Missense_Mutation_p.Q792E|FN1_ENST00000421182.1_Missense_Mutation_p.Q792E|FN1_ENST00000446046.1_Missense_Mutation_p.Q792E|FN1_ENST00000443816.1_Missense_Mutation_p.Q792E|FN1_ENST00000357009.2_Missense_Mutation_p.Q792E|FN1_ENST00000323926.6_Missense_Mutation_p.Q792E|FN1_ENST00000336916.4_Missense_Mutation_p.Q792E			P02751	FINC_HUMAN	fibronectin 1	792	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				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)		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)	TCAGATATCTGATAGACATTT	0.393																																																0			2											105	102	103					2																	216273075		2203	4300	6503	215981320	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.2374C>G	2.37:g.216273075G>C	ENSP00000352696:p.Gln792Glu		215981320	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		.	.	.	.	.	.	.	.	.	.	G	0.261	-0.999556	0.02128	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.93	3.09	0.35607	.	0.193025	0.36200	N	0.002729	T	0.26738	0.0654	N	0.02247	-0.625	0.43408	D	0.995543	B;B;B;B;B;B;B;B;B;B	0.13145	0.0;0.003;0.003;0.0;0.004;0.003;0.001;0.0;0.0;0.007	B;B;B;B;B;B;B;B;B;B	0.14578	0.004;0.011;0.006;0.002;0.005;0.004;0.011;0.002;0.002;0.011	T	0.39583	-0.9607	10	0.02654	T	1	.	19.5169	0.95169	0.0:0.311:0.689:0.0	.	792;792;792;792;792;792;792;792;792;792	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	E	792	ENSP00000394423:Q792E;ENSP00000323534:Q792E;ENSP00000338200:Q792E;ENSP00000350534:Q792E;ENSP00000346839:Q792E;ENSP00000352696:Q792E;ENSP00000265312:Q792E;ENSP00000273049:Q792E;ENSP00000349509:Q792E;ENSP00000410422:Q792E;ENSP00000415018:Q792E;ENSP00000399538:Q792E;ENSP00000348285:Q792E	ENSP00000265313:Q792E	Q	-	1	0	FN1	215981320	1.000000	0.71417	0.890000	0.34922	0.419000	0.31324	3.648000	0.54410	0.099000	0.17552	-0.795000	0.03280	CAG		0.393	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		C	216273075	G	C	216273075	3	2	341	1	0	0	0	0	1	0	0	0	5962	1299	45	3	5183	3	FN1	2	216273075	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	36904590	216273075	26926298	17	18432											
ABLIM2	84448	genome.wustl.edu	37	4	8082501	8082501	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:8082501C>G	ENST00000341937.5	-	5	547	c.483G>C	c.(481-483)aaG>aaC	p.K161N	ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Missense_Mutation_p.K161N|ABLIM2_ENST00000545242.1_Missense_Mutation_p.K161N|ABLIM2_ENST00000361737.5_Missense_Mutation_p.K161N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.K161N|ABLIM2_ENST00000296372.8_Missense_Mutation_p.K161N|ABLIM2_ENST00000361581.5_Missense_Mutation_p.K161N|ABLIM2_ENST00000546334.1_Missense_Mutation_p.K161N|ABLIM2_ENST00000505872.1_Missense_Mutation_p.K161N|ABLIM2_ENST00000428004.2_Missense_Mutation_p.K161N	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	161	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCTGGCCATTCTTGATTTCTG	0.552																																																0			4											69	74	72					4																	8082501		1950	4147	6097	8133401	SO:0001583	missense	84448			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.483G>C	4.37:g.8082501C>G	ENSP00000342813:p.Lys161Asn		8133401	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738443	0.49045	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	D;D;D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	3.84	-3.55	0.04639	Zinc finger, LIM-type (5);	0.237714	0.41605	D	0.000857	D	0.85919	0.5809	L	0.41356	1.27	0.80722	D	1	P;B;D;P;B;B;B;P	0.60575	0.863;0.083;0.988;0.519;0.261;0.262;0.324;0.738	P;B;D;P;B;B;B;P	0.66979	0.588;0.224;0.948;0.739;0.316;0.393;0.243;0.831	T	0.81765	-0.0783	10	0.62326	D	0.03	.	6.6444	0.22927	0.0:0.3293:0.1279:0.5427	.	166;161;161;161;161;161;161;161	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	N	161	ENSP00000354887:K161N;ENSP00000296372:K161N;ENSP00000441255:K161N;ENSP00000444365:K161N;ENSP00000393511:K161N;ENSP00000342813:K161N;ENSP00000355003:K161N;ENSP00000384658:K161N;ENSP00000421283:K161N;ENSP00000389410:K161N	ENSP00000296372:K161N	K	-	3	2	ABLIM2	8133401	0.975000	0.34042	0.004000	0.12327	0.714000	0.41099	0.110000	0.15437	-0.705000	0.05035	-0.391000	0.06502	AAG		0.552	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		G	8082501	C	G	8082501	3	3	341	1	0	0	0	0	1	0	0	0	95	912	32	3	1576	3	ABLIM2	4	8082501	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09		8082501	183071775	18	18433											
CENPC1	1060	genome.wustl.edu	37	4	68384043	68384043	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:68384043C>G	ENST00000273853.6	-	7	911	c.661G>C	c.(661-663)Gat>Cat	p.D221H		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	221					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										ACTTTATTATCTATTTCTATT	0.313																																																0			4											35	31	32					4																	68384043		1775	4008	5783	68066638	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.661G>C	4.37:g.68384043C>G	ENSP00000273853:p.Asp221His		68066638	Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	7.236	0.600265	0.13939	.	.	ENSG00000145241	ENST00000273853	.	.	.	3.76	1.84	0.25277	.	0.580111	0.15559	N	0.256033	T	0.21227	0.0511	N	0.22421	0.69	0.09310	N	1	P;P	0.36944	0.574;0.574	B;B	0.34824	0.19;0.19	T	0.10474	-1.0628	9	0.56958	D	0.05	-0.0311	6.0169	0.19608	0.0:0.7335:0.0:0.2665	.	221;221	Q8IW27;Q03188	.;CENPC_HUMAN	H	221	.	ENSP00000273853:D221H	D	-	1	0	CENPC1	68066638	0.004000	0.15560	0.004000	0.12327	0.098000	0.18820	1.155000	0.31700	0.313000	0.23062	0.591000	0.81541	GAT		0.313	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			G	68384043	C	G	68384043	3	3	341	1	0	0	0	0	1	0	0	0	3229	913	32	3	2222	3	CENPC1	4	68384043	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	60301542	68384043	122770233	19	18434											
UGT2A1	10941	genome.wustl.edu	37	4	70513038	70513038	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:70513038G>C	ENST00000503640.1	-	1	380	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	UGT2A1_ENST00000514019.1_Missense_Mutation_p.Q109E|UGT2A1_ENST00000512704.1_Missense_Mutation_p.Q109E|UGT2A1_ENST00000286604.4_Missense_Mutation_p.Q109E	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	109					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCCATCTCCTGATAGAATCTC	0.423																																																0			4											91	86	87					4																	70513038		2203	4298	6501	70547627	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.325C>G	4.37:g.70513038G>C	ENSP00000424478:p.Gln109Glu		70547627	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947847	0.18356	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.61859	0.39;0.07;0.39;0.39;0.39	5.78	1.44	0.22558	.	1.290410	0.04893	N	0.450015	T	0.44953	0.1318	L	0.28400	0.85	.	.	.	P;B;B;B	0.41313	0.745;0.104;0.059;0.047	B;B;B;B	0.39258	0.295;0.062;0.033;0.024	T	0.42137	-0.9469	9	0.30078	T	0.28	.	6.892	0.24234	0.09:0.0:0.3015:0.6084	.	109;109;109;109	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	E	109	ENSP00000424478:Q109E;ENSP00000421432:Q109E;ENSP00000425497:Q109E;ENSP00000286604:Q109E;ENSP00000427709:Q109E	ENSP00000286604:Q109E	Q	-	1	0	UGT2A1	70547627	0.145000	0.22656	0.802000	0.32245	0.415000	0.31203	0.403000	0.20982	0.730000	0.32425	0.591000	0.81541	CAG		0.423	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		C	70513038	G	C	70513038	3	2	341	1	0	0	0	0	1	0	0	0	16953	1299	45	3	1282	3	UGT2A1	4	70513038	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	2128995	70513038	120641238	20	18435											
FBXW7	55294	genome.wustl.edu	37	4	153273850	153273850	+	Intron	SNP	G	G	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr4:153273850G>T	ENST00000281708.4	-	3	1731				FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000263981.5_Missense_Mutation_p.S11R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GGCAAATGCAGCTCAGTATCA	0.458			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	0			4											73	70	71					4																	153273850		2203	4300	6503	153493300	SO:0001627	intron_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.502-2574C>A	4.37:g.153273850G>T			153493300	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772590	0.31411	.	.	ENSG00000109670	ENST00000263981	T	0.57273	0.41	6.04	6.04	0.98038	.	.	.	.	.	T	0.39572	0.1083	N	0.08118	0	0.80722	D	1	B	0.20368	0.044	B	0.24541	0.054	T	0.30621	-0.9972	9	0.87932	D	0	.	19.3663	0.94464	0.0:0.0:1.0:0.0	.	11	Q969H0-2	.	R	11	ENSP00000263981:S11R	ENSP00000263981:S11R	S	-	3	2	FBXW7	153493300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.937000	0.87672	2.873000	0.98535	0.563000	0.77884	AGC		0.458	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			T	153273850	G	T	153273850	1	4	341	0	1	0	0	0	0	0	0	0	5769	962	34	3		3	FBXW7	4	153273850	Intron	SNP	G	TCGA-29-1764-01A-01W-0633-09	82760812	153273850	37880426	21	18436											
SLC6A18	348932	genome.wustl.edu	37	5	1242840	1242840	+	Silent	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr5:1242840C>T	ENST00000324642.3	+	8	1116	c.993C>T	c.(991-993)atC>atT	p.I331I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	331					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCAGCCTCATCAACGACTTTG	0.597																																																0			5											183	146	159					5																	1242840		2203	4300	6503	1295840	SO:0001819	synonymous_variant	348932			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.993C>T	5.37:g.1242840C>T			1295840		Silent	SNP	ENST00000324642.3	37	CCDS3860.1																																																																																				0.597	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		T	1242840	C	T	1242840	2	4	341	1	0	0	0	0	0	0	0	1	14684	816	29	2		2	SLC6A18	5	1242840	Silent	SNP	C	TCGA-29-1764-01A-01W-0633-09		1242840	179672420	22	18437											
SLC6A3	6531	genome.wustl.edu	37	5	1432751	1432751	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr5:1432751C>T	ENST00000270349.9	-	4	608	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A161T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	161					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCGCCCAGGCGATGATGACG	0.597																																																0			5											150	134	140					5																	1432751		2203	4300	6503	1485751	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.481G>A	5.37:g.1432751C>T	ENSP00000270349:p.Ala161Thr		1485751	A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331590	0.81690	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.79749	-1.3;-1.3;-1.3	4.34	4.34	0.51931	.	0.120780	0.53938	D	0.000043	T	0.82130	0.4970	M	0.73319	2.225	0.53005	D	0.99996	D	0.54397	0.966	P	0.46940	0.532	D	0.85310	0.1078	10	0.66056	D	0.02	.	14.4007	0.67044	0.0:1.0:0.0:0.0	.	161	Q01959	SC6A3_HUMAN	T	161;161;87	ENSP00000270349:A161T;ENSP00000399806:A161T;ENSP00000429101:A87T	ENSP00000270349:A161T	A	-	1	0	SLC6A3	1485751	0.996000	0.38824	1.000000	0.80357	0.955000	0.61496	3.422000	0.52749	2.237000	0.73441	0.591000	0.81541	GCC		0.597	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		T	1432751	C	T	1432751	3	4	341	1	0	0	0	0	1	0	0	0	14688	768	27	1	1429	1	SLC6A3	5	1432751	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	189911	1432751	179482509	23	18438											
RANBP17	64901	genome.wustl.edu	37	5	170346477	170346477	+	Nonsense_Mutation	SNP	T	T	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr5:170346477T>G	ENST00000523189.1	+	11	1298	c.1134T>G	c.(1132-1134)taT>taG	p.Y378*		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	378					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGTTCATTATTTATTAACTC	0.348			T	TRD@	ALL																																		Dom	yes		5	5q34	64901	RAN binding protein 17		L	0			5											98	92	94					5																	170346477		2203	4300	6503	170279082	SO:0001587	stop_gained	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1134T>G	5.37:g.170346477T>G	ENSP00000427975:p.Tyr378*		170279082	Q8IU74	Nonsense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	29.8|29.8	5.033078|5.033078	0.93575|0.93575	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000522734|ENST00000523189;ENST00000545246	.|.	.|.	.|.	5.4|5.4	-1.63|-1.63	0.08345|0.08345	.|.	.|0.000000	.|0.51477	.|D	.|0.000099	T|.	0.22126|.	0.0533|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43814|.	-0.9368|.	3|.	.|0.02654	.|T	.|1	-11.439|-11.439	11.2518|11.2518	0.49031|0.49031	0.0:0.5214:0.0:0.4786|0.0:0.5214:0.0:0.4786	.|.	.|.	.|.	.|.	V|X	112|378;274	.|.	.|ENSP00000373770:Y378X	F|Y	+|+	1|3	0|2	RANBP17|RANBP17	170279082|170279082	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.989000|0.989000	0.77384|0.77384	1.519000|1.519000	0.35888|0.35888	-0.539000|-0.539000	0.06273|0.06273	0.397000|0.397000	0.26171|0.26171	TTT|TAT		0.348	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		G	170346477	T	G	170346477	4	3	341	1	0	0	0	0	0	1	0	0	13030	1500	52	5	1176	5	RANBP17	5	170346477	Nonsense_Mutation	SNP	T	TCGA-29-1764-01A-01W-0633-09	168913726	170346477	10568783	24	18439											
EYS	346007	genome.wustl.edu	37	6	66112466	66112466	+	Silent	SNP	T	T	G	rs370471214		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr6:66112466T>G	ENST00000370621.3	-	7	1615	c.1089A>C	c.(1087-1089)acA>acC	p.T363T	EYS_ENST00000393380.2_Silent_p.T363T|EYS_ENST00000342421.5_Silent_p.T363T|EYS_ENST00000370618.3_Silent_p.T363T|EYS_ENST00000503581.1_Silent_p.T363T|EYS_ENST00000370616.2_Silent_p.T363T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	363	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAAGCAAATCTGTAAATATTG	0.303																																																0			6						T	,,	0,4402		0,0,2201	60	59	59		1089,1089,1089	4.5	0	6		59	1,8567	1.2+/-3.3	0,1,4283	no	coding-synonymous,coding-synonymous,coding-synonymous	EYS	NM_001142800.1,NM_001142801.1,NM_198283.1	,,	0,1,6484	GG,GT,TT		0.0117,0.0,0.0077	,,	363/3145,363/620,363/595	66112466	1,12969	2201	4284	6485	66169187	SO:0001819	synonymous_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1089A>C	6.37:g.66112466T>G			66169187	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																					0.303	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	66112466	T	G	66112466	2	3	341	1	0	0	0	0	0	0	0	1	5332	1567	55	5		5	EYS	6	66112466	Silent	SNP	T	TCGA-29-1764-01A-01W-0633-09		66112466	105002601	25	18440											
AEBP1	165	genome.wustl.edu	37	7	44152354	44152354	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:44152354G>C	ENST00000223357.3	+	18	2720	c.2415G>C	c.(2413-2415)gaG>gaC	p.E805D	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.E380D	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	805	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGGCCCAGGAGACTCCAGACC	0.677																																																0			7											49	48	48					7																	44152354		2203	4300	6503	44118879	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2415G>C	7.37:g.44152354G>C	ENSP00000223357:p.Glu805Asp		44118879	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133812	0.77662	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.10860	2.83;2.83	5.28	5.28	0.74379	Peptidase M14, carboxypeptidase A (2);	0.113052	0.64402	D	0.000012	T	0.20373	0.0490	L	0.39898	1.24	0.40243	D	0.97798	D;D	0.62365	0.991;0.958	P;P	0.61940	0.851;0.896	T	0.00405	-1.1760	10	0.39692	T	0.17	-42.4213	12.2873	0.54798	0.0792:0.0:0.9208:0.0	.	380;805	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	D	805;380	ENSP00000223357:E805D;ENSP00000398878:E380D	ENSP00000223357:E805D	E	+	3	2	AEBP1	44118879	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.615000	0.61190	2.639000	0.89480	0.491000	0.48974	GAG		0.677	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		C	44152354	G	C	44152354	3	2	341	1	0	0	0	0	1	0	0	0	349	933	33	3	2485	3	AEBP1	7	44152354	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09		44152354	114986309	26	18441											
ABCA13	154664	genome.wustl.edu	37	7	48280567	48280567	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:48280567C>A	ENST00000435803.1	+	10	1190	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	389					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P389H(1)|p.P334H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGAGCAAGCCCTGGAAGGTG	0.493																																																2	Substitution - Missense(2)	large_intestine(2)	7											132	133	133					7																	48280567		2048	4204	6252	48251113	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1166C>A	7.37:g.48280567C>A	ENSP00000411096:p.Pro389His		48251113	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768256	0.49680	.	.	ENSG00000179869	ENST00000435803	D	0.91464	-2.85	5.5	3.69	0.42338	.	0.276231	0.25954	N	0.027224	D	0.89424	0.6711	L	0.27053	0.805	0.09310	N	0.999994	D	0.71674	0.998	P	0.61397	0.888	T	0.81531	-0.0890	10	0.87932	D	0	.	8.1417	0.31086	0.0:0.8152:0.0:0.1848	.	389	Q86UQ4	ABCAD_HUMAN	H	389	ENSP00000411096:P389H	ENSP00000411096:P389H	P	+	2	0	ABCA13	48251113	0.000000	0.05858	0.006000	0.13384	0.100000	0.18952	0.082000	0.14847	0.678000	0.31325	0.655000	0.94253	CCC		0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48280567	C	A	48280567	3	1	341	1	0	0	0	0	1	0	0	0	31	623	22	3	1033	3	ABCA13	7	48280567	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	4128213	48280567	110858096	27	18442											
PCLO	27445	genome.wustl.edu	37	7	82538330	82538330	+	Splice_Site	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:82538330C>A	ENST00000333891.9	-	8	13638		c.e8-1		PCLO_ENST00000423517.2_Splice_Site	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGATGATAGGCTTTGGACACC	0.443																																																0			7											77	69	72					7																	82538330		1955	4148	6103	82376266	SO:0001630	splice_region_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13301-1G>T	7.37:g.82538330C>A			82376266		Splice_Site	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934043	0.92458	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5274	0.95212	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCLO	82376266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.699000	0.92147	0.591000	0.81541	.		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	Intron	A	82538330	C	A	82538330	5	1	341	1	0	0	0	0	0	0	1	0	11583	811	28	3	2217	3	PCLO	7	82538330	Splice_Site	SNP	C	TCGA-29-1764-01A-01W-0633-09	34257763	82538330	76600333	28	18443											
NRCAM	4897	genome.wustl.edu	37	7	107825024	107825024	+	Silent	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:107825024C>T	ENST00000425651.2	-	18	2069	c.2070G>A	c.(2068-2070)aaG>aaA	p.K690K	NRCAM_ENST00000379022.4_Silent_p.K690K|NRCAM_ENST00000351718.4_Silent_p.K674K|NRCAM_ENST00000413765.2_Silent_p.K671K|NRCAM_ENST00000379028.3_Silent_p.K690K|NRCAM_ENST00000379024.4_Silent_p.K671K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	690	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAGCCCTGGCTTGTGCATTG	0.517																																																0			7											77	74	75					7																	107825024		2203	4300	6503	107612260	SO:0001819	synonymous_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2070G>A	7.37:g.107825024C>T			107612260	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	CCDS47686.1																																																																																				0.517	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		T	107825024	C	T	107825024	2	4	341	1	0	0	0	0	0	0	0	1	10644	796	28	2		2	NRCAM	7	107825024	Silent	SNP	C	TCGA-29-1764-01A-01W-0633-09	25286694	107825024	51313639	29	18444											
PTPRZ1	5803	genome.wustl.edu	37	7	121651515	121651515	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:121651515G>A	ENST00000393386.2	+	12	2826	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	805					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGTCGATGTGTCATTTGAAT	0.463																																																0			7											292	242	259					7																	121651515		2203	4300	6503	121438751	SO:0001819	synonymous_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2415G>A	7.37:g.121651515G>A			121438751	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																				0.463	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121651515	G	A	121651515	2	1	341	1	0	0	0	0	0	0	0	1	12817	1364	48	2		2	PTPRZ1	7	121651515	Silent	SNP	G	TCGA-29-1764-01A-01W-0633-09	13826491	121651515	37487148	30	18445											
ZNF777	27153	genome.wustl.edu	37	7	149152720	149152720	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr7:149152720G>C	ENST00000247930.4	-	2	717	c.394C>G	c.(394-396)Cct>Gct	p.P132A		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAGCTTCAGGGGAGTGAACG	0.612																																																0			7											94	107	103					7																	149152720		1856	4097	5953	148783653	SO:0001583	missense	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.394C>G	7.37:g.149152720G>C	ENSP00000247930:p.Pro132Ala		148783653	Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187826	0.38609	.	.	ENSG00000196453	ENST00000247930	T	0.06528	3.29	4.94	4.06	0.47325	.	0.000000	0.44285	D	0.000468	T	0.11110	0.0271	L	0.27053	0.805	0.31898	N	0.616328	D	0.59767	0.986	P	0.62491	0.903	T	0.03695	-1.1012	10	0.62326	D	0.03	-9.7514	8.9251	0.35634	0.1027:0.0:0.8973:0.0	.	132	Q9ULD5-2	.	A	132	ENSP00000247930:P132A	ENSP00000247930:P132A	P	-	1	0	ZNF777	148783653	1.000000	0.71417	0.841000	0.33234	0.406000	0.30931	4.223000	0.58587	1.079000	0.41038	0.462000	0.41574	CCT		0.612	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		C	149152720	G	C	149152720	3	2	341	1	0	0	0	0	1	0	0	0	18150	1232	43	3	2121	3	ZNF777	7	149152720	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	27501205	149152720	9985943	31	18446											
RB1CC1	9821	genome.wustl.edu	37	8	53573196	53573196	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr8:53573196C>A	ENST00000025008.5	-	12	2172	c.1649G>T	c.(1648-1650)cGt>cTt	p.R550L	RB1CC1_ENST00000435644.2_Missense_Mutation_p.R550L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R550L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	550					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CCTAAACAGACGATTTCTTAA	0.313																																					GBM(180;1701 2102 13475 42023 52570)											0			8											46	53	51					8																	53573196		2203	4298	6501	53735749	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1649G>T	8.37:g.53573196C>A	ENSP00000025008:p.Arg550Leu		53735749	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175504	0.78564	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15718	2.41;2.4;2.4	5.29	2.46	0.29980	.	0.189753	0.46758	D	0.000266	T	0.24624	0.0597	L	0.60455	1.87	0.58432	D	0.999997	D;D	0.58620	0.983;0.971	P;P	0.53954	0.738;0.552	T	0.01287	-1.1395	10	0.51188	T	0.08	-13.5743	6.9738	0.24664	0.1427:0.7027:0.0:0.1546	.	550;550	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	550	ENSP00000025008:R550L;ENSP00000396067:R550L;ENSP00000445960:R550L	ENSP00000025008:R550L	R	-	2	0	RB1CC1	53735749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.522000	0.53480	0.711000	0.32018	0.460000	0.39030	CGT		0.313	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53573196	C	A	53573196	3	1	341	1	0	0	0	0	1	0	0	0	13102	536	19	3	3187	3	RB1CC1	8	53573196	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09		53573196	92790826	32	18447											
PABPC1	26986	genome.wustl.edu	37	8	101721752	101721752	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr8:101721752T>G	ENST00000318607.5	-	8	2308	c.1180A>C	c.(1180-1182)Aac>Cac	p.N394H	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000522387.1_Missense_Mutation_p.N362H|PABPC1_ENST00000519004.1_Missense_Mutation_p.N349H|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	394					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATTACAGGGTTGGGAACAGCT	0.493																																																0			8											153	133	140					8																	101721752		2203	4300	6503	101790928	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1180A>C	8.37:g.101721752T>G	ENSP00000313007:p.Asn394His		101790928	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.72|15.72	2.916510|2.916510	0.52546|0.52546	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519596	T;T;T|.	0.31247|.	1.57;1.5;2.57|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73892|0.73892	0.3645|0.3645	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999995|0.999995	B;B;B|.	0.15141|.	0.006;0.012;0.012|.	B;B;B|.	0.19148|.	0.024;0.013;0.013|.	T|T	0.74432|0.74432	-0.3667|-0.3667	10|5	0.14656|.	T|.	0.56|.	.|.	15.6534|15.6534	0.77115|0.77115	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	362;394;394|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	H|P	394;394;349;362|226	ENSP00000313007:N394H;ENSP00000429594:N349H;ENSP00000429395:N362H|.	ENSP00000313007:N394H|.	N|Q	-|-	1|2	0|0	PABPC1|PABPC1	101790928|101790928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.010000|8.010000	0.88615|0.88615	2.160000|2.160000	0.67779|0.67779	0.528000|0.528000	0.53228|0.53228	AAC|CAA		0.493	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		G	101721752	T	G	101721752	3	3	341	1	0	0	0	0	1	0	0	0	11363	1812	63	5	758	5	PABPC1	8	101721752	Missense_Mutation	SNP	T	TCGA-29-1764-01A-01W-0633-09	48148556	101721752	44642270	33	18448											
TMEM74	157753	genome.wustl.edu	37	8	109796905	109796905	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr8:109796905C>G	ENST00000297459.3	-	2	601	c.423G>C	c.(421-423)tgG>tgC	p.W141C	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	141					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGGATTTTCCCAGCCAAGCT	0.473																																																0			8											74	79	77					8																	109796905		2203	4300	6503	109866081	SO:0001583	missense	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.423G>C	8.37:g.109796905C>G	ENSP00000297459:p.Trp141Cys		109866081		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057291	0.36277	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.96	5.96	0.96718	.	0.275088	0.32444	N	0.006095	T	0.54743	0.1877	N	0.19112	0.55	0.49483	D	0.999795	D	0.69078	0.997	P	0.60236	0.871	T	0.56056	-0.8042	9	0.52906	T	0.07	-13.9937	14.5422	0.68002	0.0:0.9304:0.0:0.0696	.	141	Q96NL1	TMM74_HUMAN	C	141	.	ENSP00000297459:W141C	W	-	3	0	TMEM74	109866081	0.993000	0.37304	1.000000	0.80357	0.954000	0.61252	0.374000	0.20501	2.826000	0.97356	0.655000	0.94253	TGG		0.473	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		G	109796905	C	G	109796905	3	3	341	1	0	0	0	0	1	0	0	0	16202	624	22	3	498	3	TMEM74	8	109796905	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	8075153	109796905	36567117	34	18449											
TG	7038	genome.wustl.edu	37	8	133900278	133900278	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr8:133900278G>A	ENST00000220616.4	+	10	2266	c.2226G>A	c.(2224-2226)gtG>gtA	p.V742V	TG_ENST00000377869.1_Silent_p.V742V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	742	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGGACGGTGCAGGCCCTGC	0.527																																																0			8											69	54	59					8																	133900278		2203	4300	6503	133969460	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2226G>A	8.37:g.133900278G>A			133969460	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																				0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133900278	G	A	133900278	2	1	341	1	0	0	0	0	0	0	0	1	15813	1306	46	2		2	TG	8	133900278	Silent	SNP	G	TCGA-29-1764-01A-01W-0633-09	24103373	133900278	12463744	35	18450											
CBWD1	55871	genome.wustl.edu	37	9	175736	175736	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:175736C>A	ENST00000356521.4	-	2	291	c.203G>T	c.(202-204)aGt>aTt	p.S68I	CBWD1_ENST00000382447.4_Missense_Mutation_p.S68I|CBWD1_ENST00000377400.4_Missense_Mutation_p.S68I|CBWD1_ENST00000382389.1_Missense_Mutation_p.S32I|CBWD1_ENST00000431099.2_Missense_Mutation_p.S32I|CBWD1_ENST00000314367.10_Missense_Mutation_p.S32I|CBWD1_ENST00000377447.3_Missense_Mutation_p.S68I|CBWD1_ENST00000382393.1_Missense_Mutation_p.S68I	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	68							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TACTCTTTTACTATGTTGCTC	0.294																																																0			9											3	3	3					9																	175736		1321	3056	4377	165736	SO:0001583	missense	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.203G>T	9.37:g.175736C>A	ENSP00000348915:p.Ser68Ile		165736	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	ENST00000356521.4	37	CCDS6438.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.925426	0.52759	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347;ENST00000417415;ENST00000382393;ENST00000382389	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	3.75	0.654	0.17833	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.321084	0.37095	N	0.002254	T	0.44008	0.1273	L	0.46819	1.47	0.34675	D	0.724155	P;P;P	0.48834	0.898;0.898;0.916	P;P;P	0.54026	0.622;0.622;0.74	T	0.55730	-0.8095	10	0.87932	D	0	-6.3911	7.7433	0.28853	0.0:0.4984:0.0:0.5016	.	68;32;68	Q9BRT8-3;Q9BRT8-2;Q9BRT8	.;.;CBWD1_HUMAN	I	68;68;68;32;68;32;68;68;68;32	ENSP00000348915:S68I;ENSP00000366617:S68I;ENSP00000371885:S68I;ENSP00000323433:S32I;ENSP00000366666:S68I;ENSP00000406064:S32I;ENSP00000371830:S68I;ENSP00000371826:S32I	ENSP00000323433:S32I	S	-	2	0	CBWD1	165736	0.996000	0.38824	1.000000	0.80357	0.948000	0.59901	0.425000	0.21346	0.249000	0.21456	0.479000	0.44913	AGT		0.294	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491		A	175736	C	A	175736	3	1	341	1	0	0	0	0	1	0	0	0	2712	565	20	3	1040	3	CBWD1	9	175736	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09		175736	141037695	36	18451											
KIAA2026	158358	genome.wustl.edu	37	9	5922767	5922767	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:5922767C>G	ENST00000399933.3	-	8	3228	c.3229G>C	c.(3229-3231)Gat>Cat	p.D1077H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.D1047H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1077										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTTGAAGATCTATTGGCAAC	0.423																																																0			9											123	112	115					9																	5922767		1881	4107	5988	5912767	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3229G>C	9.37:g.5922767C>G	ENSP00000382815:p.Asp1077His		5912767	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	C	17.43	3.386455	0.61956	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.33	5.33	0.75918	.	0.093745	0.43919	D	0.000507	T	0.65923	0.2738	L	0.32530	0.975	0.42120	D	0.991421	D	0.69078	0.997	P	0.60473	0.875	T	0.69993	-0.4994	9	0.87932	D	0	-11.9649	19.0092	0.92865	0.0:1.0:0.0:0.0	.	1077	Q5HYC2	K2026_HUMAN	H	1077;1047	.	ENSP00000370870:D1047H	D	-	1	0	KIAA2026	5912767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.223000	0.51231	2.482000	0.83794	0.561000	0.74099	GAT		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		G	5922767	C	G	5922767	3	3	341	1	0	0	0	0	1	0	0	0	8270	913	32	3	3086	3	KIAA2026	9	5922767	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	5747031	5922767	135290664	37	18452											
TTC39B	158219	genome.wustl.edu	37	9	15189769	15189769	+	Missense_Mutation	SNP	G	G	T	rs143112996	byFrequency	TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:15189769G>T	ENST00000512701.2	-	12	1163	c.1127C>A	c.(1126-1128)gCg>gAg	p.A376E	TTC39B_ENST00000507993.1_Missense_Mutation_p.A211E|TTC39B_ENST00000355694.2_Missense_Mutation_p.A310E|TTC39B_ENST00000380850.4_Missense_Mutation_p.A376E|TTC39B_ENST00000507285.1_Missense_Mutation_p.A211E|TTC39B_ENST00000297615.5_Missense_Mutation_p.A307E			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	376										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTCTGCTTCCGCAACATTCAC	0.403																																																0			9											71	65	67					9																	15189769		2203	4300	6503	15179769	SO:0001583	missense	158219			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1127C>A	9.37:g.15189769G>T	ENSP00000422496:p.Ala376Glu		15179769	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	1.938	-0.444283	0.04604	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.45276	1.11;1.11;0.9;0.9;1.11;1.11	5.72	-1.66	0.08265	.	0.901412	0.09525	N	0.790362	T	0.10208	0.0250	N	0.01188	-0.97	0.09310	N	0.999996	B;B;B;B;B	0.15719	0.001;0.002;0.014;0.0;0.0	B;B;B;B;B	0.16289	0.007;0.012;0.015;0.003;0.002	T	0.30268	-0.9984	10	0.02654	T	1	-0.2488	1.389	0.02247	0.4565:0.0923:0.2474:0.2039	.	307;376;376;308;310	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	E	376;307;310;376;211;211	ENSP00000370231:A376E;ENSP00000297615:A307E;ENSP00000347920:A310E;ENSP00000422496:A376E;ENSP00000426539:A211E;ENSP00000423392:A211E	ENSP00000297615:A307E	A	-	2	0	TTC39B	15179769	0.000000	0.05858	0.900000	0.35374	0.882000	0.50991	0.140000	0.16056	-0.142000	0.11354	-0.482000	0.04802	GCG		0.403	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		T	15189769	G	T	15189769	3	4	341	1	0	0	0	0	1	0	0	0	16708	1087	38	3	978	3	TTC39B	9	15189769	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	9267002	15189769	126023662	38	18453											
GARNL3	84253	genome.wustl.edu	37	9	130155530	130155530	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:130155530G>C	ENST00000373387.4	+	28	3391	c.3039G>C	c.(3037-3039)aaG>aaC	p.K1013N	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.K991N	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	1013					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TAGACTTGAAGTAACAGAGTT	0.453																																																0			9											62	72	68					9																	130155530		2203	4300	6503	129195351	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.3039G>C	9.37:g.130155530G>C	ENSP00000362485:p.Lys1013Asn		129195351	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797050	0.70567	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.90844	-2.72;-2.74	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.91129	0.7207	L	0.29908	0.895	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.69824	0.966;0.966	D	0.89852	0.4010	9	.	.	.	.	12.6621	0.56820	0.0818:0.0:0.9182:0.0	.	1013;991	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	N	991;1013	ENSP00000396205:K991N;ENSP00000362485:K1013N	.	K	+	3	2	GARNL3	129195351	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.591000	0.36665	1.454000	0.47793	0.655000	0.94253	AAG		0.453	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		C	130155530	G	C	130155530	3	2	341	1	0	0	0	0	1	0	0	0	6241	1020	36	3	3149	3	GARNL3	9	130155530	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	114965761	130155530	11057901	39	18454											
VAV2	7410	genome.wustl.edu	37	9	136661570	136661570	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr9:136661570T>A	ENST00000371850.3	-	11	1044	c.1013A>T	c.(1012-1014)aAa>aTa	p.K338I	VAV2_ENST00000371851.1_Missense_Mutation_p.K333I|VAV2_ENST00000406606.3_Missense_Mutation_p.K333I	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	338	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGGTGGTATTTGAGCACCCT	0.607																																																0			9											88	73	78					9																	136661570		2203	4300	6503	135651391	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1013A>T	9.37:g.136661570T>A	ENSP00000360916:p.Lys338Ile		135651391	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523428	0.85600	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.75367	-0.93;-0.93;-0.93	4.24	4.24	0.50183	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.88948	0.6576	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;0.999	D	0.91729	0.5395	10	0.87932	D	0	.	13.649	0.62299	0.0:0.0:0.0:1.0	.	338;333	P52735;P52735-3	VAV2_HUMAN;.	I	338;333;333;333	ENSP00000360916:K338I;ENSP00000360917:K333I;ENSP00000385362:K333I	ENSP00000317258:K333I	K	-	2	0	VAV2	135651391	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.480000	0.81109	1.697000	0.51169	0.379000	0.24179	AAA		0.607	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			A	136661570	T	A	136661570	3	1	341	1	0	0	0	0	1	0	0	0	17132	1841	64	5	1703	5	VAV2	9	136661570	Missense_Mutation	SNP	T	TCGA-29-1764-01A-01W-0633-09	6506040	136661570	4551861	40	18455											
SLC39A12	221074	genome.wustl.edu	37	10	18276513	18276513	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr10:18276513T>A	ENST00000377369.2	+	7	1475	c.1202T>A	c.(1201-1203)tTa>tAa	p.L401*	SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.L267*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.L401*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.L401*	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	401					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AGGCTTATCTTACAGCTGTTT	0.542																																																0			10											174	147	156					10																	18276513		2203	4300	6503	18316519	SO:0001587	stop_gained	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1202T>A	10.37:g.18276513T>A	ENSP00000366586:p.Leu401*		18316519	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Nonsense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	T	40	8.424463	0.98806	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	.	.	.	6.08	6.08	0.98989	.	0.078431	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4555	16.6438	0.85155	0.0:0.0:0.0:1.0	.	.	.	.	X	401;401;401;267;321	.	ENSP00000366586:L401X	L	+	2	0	SLC39A12	18316519	1.000000	0.71417	0.869000	0.34112	0.638000	0.38207	7.418000	0.80167	2.333000	0.79357	0.533000	0.62120	TTA		0.542	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		A	18276513	T	A	18276513	4	1	341	1	0	0	0	0	0	1	0	0	14618	1764	61	5	1224	5	SLC39A12	10	18276513	Nonsense_Mutation	SNP	T	TCGA-29-1764-01A-01W-0633-09		18276513	117258234	41	18456											
CHAT	1103	genome.wustl.edu	37	10	50827773	50827773	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr10:50827773G>A	ENST00000337653.2	+	3	543	c.390G>A	c.(388-390)ggG>ggA	p.G130G	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Silent_p.G12G|CHAT_ENST00000395562.2_Silent_p.G48G|CHAT_ENST00000351556.3_Silent_p.G12G|CHAT_ENST00000339797.1_Silent_p.G12G|CHAT_ENST00000455728.2_Silent_p.G12G	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	130					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TCTTCCAGGGGCTGCCCAAAC	0.587																																																0			10											54	42	46					10																	50827773		2203	4300	6503	50497779	SO:0001819	synonymous_variant	1103			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.390G>A	10.37:g.50827773G>A			50497779	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	CCDS7232.1																																																																																				0.587	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		A	50827773	G	A	50827773	2	1	341	1	0	0	0	0	0	0	0	1	3313	1190	42	2		2	CHAT	10	50827773	Silent	SNP	G	TCGA-29-1764-01A-01W-0633-09	32551260	50827773	84706974	42	18457											
DMBT1	1755	genome.wustl.edu	37	10	124361450	124361450	+	Silent	SNP	A	A	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr10:124361450A>C	ENST00000338354.3	+	29	3587	c.3481A>C	c.(3481-3483)Agg>Cgg	p.R1161R	DMBT1_ENST00000368955.3_Silent_p.R1151R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.R662R|DMBT1_ENST00000344338.3_Silent_p.R1151R|DMBT1_ENST00000330163.4_Silent_p.R662R|DMBT1_ENST00000368909.3_Silent_p.R1161R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1161	SRCR 9. {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)			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)				TGTGGTTTGCAGGCAGCTGGG	0.602																																					Ovarian(182;93 2026 18125 22222 38972)											0			10											11	17	16					10																	124361450		574	2247	2821	124351440	SO:0001819	synonymous_variant	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.3481A>C	10.37:g.124361450A>C			124351440	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																					0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		C	124361450	A	C	124361450	2	2	341	1	0	0	0	0	0	0	0	1	4577	179	7	5		5	DMBT1	10	124361450	Silent	SNP	A	TCGA-29-1764-01A-01W-0633-09	73533677	124361450	11173297	43	18458											
CCDC73	493860	genome.wustl.edu	37	11	32637508	32637508	+	Missense_Mutation	SNP	A	A	C	rs370055016		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr11:32637508A>C	ENST00000335185.5	-	15	1396	c.1353T>G	c.(1351-1353)ttT>ttG	p.F451L	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	451										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCCTCTATAAATGAGCCTT	0.239																																																0			11											38	34	35					11																	32637508		1768	4037	5805	32594084	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1353T>G	11.37:g.32637508A>C	ENSP00000335325:p.Phe451Leu		32594084	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	A	1.544	-0.541123	0.04053	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.92	0.794	0.18638	.	3.432310	0.00841	N	0.001749	T	0.32526	0.0832	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08659	-1.0711	9	0.12430	T	0.62	.	5.4575	0.16598	0.4792:0.3511:0.0:0.1697	.	441;451	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	L	451	.	ENSP00000335325:F451L	F	-	3	2	CCDC73	32594084	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	1.187000	0.32090	0.368000	0.24481	0.477000	0.44152	TTT		0.239	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		C	32637508	A	C	32637508	3	2	341	1	0	0	0	0	1	0	0	0	2846	359	13	5	1902	5	CCDC73	11	32637508	Missense_Mutation	SNP	A	TCGA-29-1764-01A-01W-0633-09		32637508	102369008	44	18459											
MYO7A	4647	genome.wustl.edu	37	11	76918343	76918343	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr11:76918343G>T	ENST00000409709.3	+	42	6024	c.5752G>T	c.(5752-5754)Gtg>Ttg	p.V1918L	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.V1869L|MYO7A_ENST00000458637.2_Missense_Mutation_p.V1880L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1918	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCCTTCGAAGTGGAGTCCAG	0.607																																																0			11											38	43	41					11																	76918343		2051	4205	6256	76595991	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5752G>T	11.37:g.76918343G>T	ENSP00000386331:p.Val1918Leu		76595991	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	g	33	5.235285	0.95207	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.01	5.01	0.66863	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.89966	0.6868	M	0.83312	2.635	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.66602	0.945;0.878	D	0.91185	0.4979	10	0.59425	D	0.04	.	18.3515	0.90339	0.0:0.0:1.0:0.0	.	1880;1918	F8VUN5;Q13402	.;MYO7A_HUMAN	L	1918;1880;1869;1091;1917;1887;1794;1060;533	ENSP00000386331:V1918L;ENSP00000392185:V1880L;ENSP00000386635:V1869L;ENSP00000417017:V1060L	ENSP00000345075:V1794L	V	+	1	0	MYO7A	76595991	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.530000	0.81962	2.326000	0.78906	0.550000	0.68814	GTG		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76918343	G	T	76918343	3	4	341	1	0	0	0	0	1	0	0	0	10082	1029	36	3	5948	3	MYO7A	11	76918343	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	44280835	76918343	58088173	45	18460											
PAK1	5058	genome.wustl.edu	37	11	77047308	77047308	+	Silent	SNP	T	T	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr11:77047308T>G	ENST00000356341.3	-	13	1767	c.1236A>C	c.(1234-1236)gcA>gcC	p.A412A	PAK1_ENST00000530617.1_Silent_p.A412A|PAK1_ENST00000278568.4_Silent_p.A412A|PAK1_ENST00000528203.1_Silent_p.A314A|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	412	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGGTTATCTGTGCACAGAATC	0.453																																																0			11											120	123	122					11																	77047308		2200	4292	6492	76724956	SO:0001819	synonymous_variant	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1236A>C	11.37:g.77047308T>G			76724956	O75561|Q13567|Q32M53|Q32M54|Q86W79	Silent	SNP	ENST00000356341.3	37	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446837	0.25987	.	.	ENSG00000149269	ENST00000533285	.	.	.	6.04	-0.243	0.13035	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37686	-0.9695	4	.	.	.	.	5.3323	0.15940	0.311:0.0:0.257:0.4319	.	.	.	.	P	134	.	.	T	-	1	0	PAK1	76724956	0.772000	0.28567	0.999000	0.59377	0.998000	0.95712	-0.042000	0.12063	0.043000	0.15746	0.460000	0.39030	ACA		0.453	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		G	77047308	T	G	77047308	2	3	341	1	0	0	0	0	0	0	0	1	11399	1683	59	5		5	PAK1	11	77047308	Silent	SNP	T	TCGA-29-1764-01A-01W-0633-09	128965	77047308	57959208	46	18461											
TECTA	7007	genome.wustl.edu	37	11	120998955	120998955	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr11:120998955A>G	ENST00000392793.1	+	9	2540	c.2269A>G	c.(2269-2271)Aag>Gag	p.K757E	TECTA_ENST00000264037.2_Missense_Mutation_p.K757E			O75443	TECTA_HUMAN	tectorin alpha	757	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CATCAACAAGAAGAAGCCCGA	0.597																																																0			11											65	70	68					11																	120998955		2203	4299	6502	120504165	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2269A>G	11.37:g.120998955A>G	ENSP00000376543:p.Lys757Glu		120504165		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576326	0.65878	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.61274	0.12;0.12	5.67	5.67	0.87782	von Willebrand factor, type D domain (3);	0.246048	0.42053	D	0.000761	T	0.63367	0.2505	L	0.43152	1.355	0.36075	D	0.842379	D	0.54964	0.969	P	0.57324	0.818	T	0.64918	-0.6294	10	0.18710	T	0.47	.	15.9056	0.79427	1.0:0.0:0.0:0.0	.	757	O75443	TECTA_HUMAN	E	757	ENSP00000376543:K757E;ENSP00000264037:K757E	ENSP00000264037:K757E	K	+	1	0	TECTA	120504165	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.478000	0.66806	2.157000	0.67596	0.533000	0.62120	AAG		0.597	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		G	120998955	A	G	120998955	3	3	341	1	0	0	0	0	1	0	0	0	15747	247	9	4	2299	4	TECTA	11	120998955	Missense_Mutation	SNP	A	TCGA-29-1764-01A-01W-0633-09	43951647	120998955	14007561	47	18462											
OVCH1	341350	genome.wustl.edu	37	12	29648346	29648346	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr12:29648346A>G	ENST00000318184.5	-	4	325	c.326T>C	c.(325-327)cTc>cCc	p.L109P		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	109	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTTCTGAAAGAGGCTGTACTC	0.383																																																0			12											102	93	96					12																	29648346		1819	4088	5907	29539613	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.326T>C	12.37:g.29648346A>G	ENSP00000326708:p.Leu109Pro		29539613		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	A	9.239	1.037856	0.19669	.	.	ENSG00000187950	ENST00000318184	D	0.90197	-2.63	2.89	2.89	0.33648	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90916	0.7145	L	0.55834	1.745	0.09310	N	1	P	0.50819	0.939	P	0.54174	0.744	T	0.82335	-0.0508	9	0.49607	T	0.09	.	9.1919	0.37204	1.0:0.0:0.0:0.0	.	109	Q7RTY7	OVCH1_HUMAN	P	109	ENSP00000326708:L109P	ENSP00000326708:L109P	L	-	2	0	OVCH1	29539613	0.377000	0.25106	0.002000	0.10522	0.009000	0.06853	1.442000	0.35046	1.569000	0.49696	0.533000	0.62120	CTC		0.383	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		G	29648346	A	G	29648346	3	3	341	1	0	0	0	0	1	0	0	0	11323	304	11	4	3178	4	OVCH1	12	29648346	Missense_Mutation	SNP	A	TCGA-29-1764-01A-01W-0633-09		29648346	104203549	48	18463											
ERBB3	2065	genome.wustl.edu	37	12	56495465	56495465	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr12:56495465G>A	ENST00000267101.3	+	28	4095	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	PA2G4_ENST00000552766.1_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_Missense_Mutation_p.E339K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1160K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E460K|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000450146.2_Missense_Mutation_p.E576K|PA2G4_ENST00000303305.6_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1219					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TTCCCTTGAGGAGCTGGGTTA	0.547																																																0			12											98	85	90					12																	56495465		2203	4300	6503	54781732	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3655G>A	12.37:g.56495465G>A	ENSP00000267101:p.Glu1219Lys		54781732	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087836	0.36855	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79653	-1.16;-1.07;-1.15;-1.29;-1.02	5.63	4.75	0.60458	.	0.164589	0.41823	D	0.000803	T	0.64046	0.2563	N	0.14661	0.345	0.43698	D	0.996153	B;B;B	0.12013	0.0;0.001;0.005	B;B;B	0.12156	0.002;0.001;0.007	T	0.57510	-0.7799	10	0.24483	T	0.36	.	9.7768	0.40623	0.1587:0.0:0.8413:0.0	.	1160;339;1219	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	K	1219;576;1160;342;460;339	ENSP00000267101:E1219K;ENSP00000399178:E576K;ENSP00000408340:E1160K;ENSP00000449129:E460K;ENSP00000448729:E339K	ENSP00000267101:E1219K	E	+	1	0	ERBB3	54781732	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.809000	0.55606	1.387000	0.46486	-0.136000	0.14681	GAG		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			A	56495465	G	A	56495465	3	1	341	1	0	0	0	0	1	0	0	0	5208	1175	41	2	3896	2	ERBB3	12	56495465	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	26847119	56495465	77356430	49	18464											
DIABLO	56616	genome.wustl.edu	37	12	122701099	122701099	+	Silent	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr12:122701099C>T	ENST00000443649.3	-	6	1276	c.459G>A	c.(457-459)ctG>ctA	p.L153L	RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000464942.2_Silent_p.L100L|DIABLO_ENST00000413918.1_Silent_p.L109L|DIABLO_ENST00000353548.6_Silent_p.L109L|DIABLO_ENST00000267169.6_Silent_p.L100L	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	153					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		AAGTGGTTTCCAGCTTCAAGT	0.383																																																0			12											125	125	125					12																	122701099		2203	4300	6503	121267052	SO:0001819	synonymous_variant	56616			AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"second mitochondria-derived activator of caspase"	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.459G>A	12.37:g.122701099C>T			121267052	B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Silent	SNP	ENST00000443649.3	37	CCDS9228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.028|9.028	0.986517|0.986517	0.18889|0.18889	.|.	.|.	ENSG00000184047|ENSG00000184047	ENST00000446652|ENST00000439489	.|.	.|.	.|.	6.08|6.08	0.546|0.546	0.17196|0.17196	.|.	.|.	.|.	.|.	.|.	T|.	0.50803|.	0.1637|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36625|.	-0.9740|.	4|.	.|.	.|.	.|.	0.3283|0.3283	5.1146|5.1146	0.14827|0.14827	0.2253:0.4443:0.0:0.3304|0.2253:0.4443:0.0:0.3304	.|.	.|.	.|.	.|.	R|X	152|49	.|.	.|.	G|W	-|-	1|2	0|0	DIABLO|DIABLO	121267052|121267052	0.934000|0.934000	0.31675|0.31675	0.918000|0.918000	0.36340|0.36340	0.985000|0.985000	0.73830|0.73830	-0.068000|-0.068000	0.11561|0.11561	0.155000|0.155000	0.19261|0.19261	-0.218000|-0.218000	0.12543|0.12543	GGA|TGG		0.383	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347102.2	NM_019887		T	122701099	C	T	122701099	2	4	341	1	0	0	0	0	0	0	0	1	4517	581	21	2		2	DIABLO	12	122701099	Silent	SNP	C	TCGA-29-1764-01A-01W-0633-09	66205634	122701099	11150796	50	18465											
ATP8A2	51761	genome.wustl.edu	37	13	26343278	26343278	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr13:26343278G>A	ENST00000381655.2	+	26	2621	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.G787R	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	787					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAACGATGTCGGGATGATCCA	0.572																																																0			13											99	107	104					13																	26343278		2158	4237	6395	25241278	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2479G>A	13.37:g.26343278G>A	ENSP00000371070:p.Gly827Arg		25241278	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175283	0.94807	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.69561	-0.41;-0.41	6.11	6.11	0.99139	HAD-like domain (2);	0.108531	0.64402	D	0.000007	D	0.82559	0.5063	M	0.79926	2.475	0.80722	D	1	D;D;D	0.67145	0.996;0.99;0.996	P;P;P	0.61477	0.889;0.823;0.889	T	0.83343	-0.0007	10	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	787;607;787	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	R	827;787;607	ENSP00000371070:G827R;ENSP00000255283:G787R	ENSP00000255283:G787R	G	+	1	0	ATP8A2	25241278	1.000000	0.71417	0.971000	0.41717	0.908000	0.53690	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	GGG		0.572	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		A	26343278	G	A	26343278	3	1	341	1	0	0	0	0	1	0	0	0	1193	1116	39	1	2581	1	ATP8A2	13	26343278	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09		26343278	88826600	51	18466											
OR4K2	390431	genome.wustl.edu	37	14	20344863	20344863	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:20344863T>A	ENST00000298642.2	+	1	473	c.437T>A	c.(436-438)gTg>gAg	p.V146E		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCTCGTGGTGGCTTCCTGG	0.458																																																0			14											310	306	308					14																	20344863		2203	4300	6503	19414703	SO:0001583	missense	390431				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.437T>A	14.37:g.20344863T>A	ENSP00000298642:p.Val146Glu		19414703	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.879002	0.33162	.	.	ENSG00000165762	ENST00000298642	T	0.00456	7.3	5.12	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000435	T	0.00784	0.0026	M	0.87827	2.91	0.09310	N	1	B	0.32302	0.363	P	0.45343	0.477	T	0.16100	-1.0414	10	0.87932	D	0	.	6.8246	0.23876	0.0:0.2657:0.0:0.7343	.	146	Q8NGD2	OR4K2_HUMAN	E	146	ENSP00000298642:V146E	ENSP00000298642:V146E	V	+	2	0	OR4K2	19414703	0.000000	0.05858	0.660000	0.29694	0.451000	0.32288	-0.378000	0.07446	0.410000	0.25675	-0.400000	0.06385	GTG		0.458	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			A	20344863	T	A	20344863	3	1	341	1	0	0	0	0	1	0	0	0	11072	1696	59	5	439	5	OR4K2	14	20344863	Missense_Mutation	SNP	T	TCGA-29-1764-01A-01W-0633-09		20344863	87004677	52	18467											
CTSG	1511	genome.wustl.edu	37	14	25043613	25043613	+	Silent	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:25043613C>G	ENST00000216336.2	-	4	468	c.432G>C	c.(430-432)gtG>gtC	p.V144V		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCCAGCCGGCCACAGTGCACA	0.612																																																0			14											112	102	106					14																	25043613		2203	4300	6503	24113453	SO:0001819	synonymous_variant	1511			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.432G>C	14.37:g.25043613C>G			24113453	Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	CCDS9631.1																																																																																				0.612	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		G	25043613	C	G	25043613	2	3	341	1	0	0	0	0	0	0	0	1	4035	581	21	3		3	CTSG	14	25043613	Silent	SNP	C	TCGA-29-1764-01A-01W-0633-09	4698750	25043613	82305927	53	18468											
HECTD1	25831	genome.wustl.edu	37	14	31647453	31647453	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:31647453G>T	ENST00000399332.1	-	3	636	c.148C>A	c.(148-150)Cct>Act	p.P50T	HECTD1_ENST00000553700.1_Missense_Mutation_p.P50T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	50					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAAGTGCGAGGAGGACATCTG	0.333																																																0			14											56	52	53					14																	31647453		1840	4081	5921	30717204	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.148C>A	14.37:g.31647453G>T	ENSP00000382269:p.Pro50Thr		30717204	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592479	0.86953	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.64085	-0.08;-0.08;-0.08	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.78380	-0.2226	10	0.40728	T	0.16	-14.0008	18.8815	0.92357	0.0:0.0:1.0:0.0	.	50	Q9ULT8	HECD1_HUMAN	T	50	ENSP00000450697:P50T;ENSP00000382269:P50T;ENSP00000452015:P50T	ENSP00000261312:P50T	P	-	1	0	HECTD1	30717204	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.532000	0.85374	0.484000	0.47621	CCT		0.333	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			T	31647453	G	T	31647453	3	4	341	1	0	0	0	0	1	0	0	0	7039	1174	41	3	7848	3	HECTD1	14	31647453	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	6603840	31647453	75702087	54	18469											
SIPA1L1	26037	genome.wustl.edu	37	14	72205845	72205845	+	Silent	SNP	A	A	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:72205845A>G	ENST00000555818.1	+	22	5730	c.5382A>G	c.(5380-5382)acA>acG	p.T1794T	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Silent_p.T1247T|SIPA1L1_ENST00000358550.2_Silent_p.T1772T|SIPA1L1_ENST00000381232.3_Silent_p.T1773T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1794					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGAAGTTCACAGAATGGGTCT	0.562																																																0			14											91	87	89					14																	72205845		2203	4300	6503	71275598	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5382A>G	14.37:g.72205845A>G			71275598	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.562	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		G	72205845	A	G	72205845	2	3	341	1	0	0	0	0	0	0	0	1	14332	175	7	4		4	SIPA1L1	14	72205845	Silent	SNP	A	TCGA-29-1764-01A-01W-0633-09	40558392	72205845	35143695	55	18470											
ZFYVE1	53349	genome.wustl.edu	37	14	73464882	73464882	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:73464882T>C	ENST00000556143.1	-	3	1345	c.625A>G	c.(625-627)Aaa>Gaa	p.K209E	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.K209E|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.K209E	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	209					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGGGAGGTTTTAAAGACTTCA	0.493																																																0			14											50	52	51					14																	73464882		2203	4300	6503	72534635	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.625A>G	14.37:g.73464882T>C	ENSP00000450742:p.Lys209Glu		72534635	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589073	0.46110	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.61274	0.12;0.12;0.12	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.74881	2.28	0.80722	D	1	B;B	0.29716	0.08;0.255	B;B	0.23275	0.045;0.038	T	0.59804	-0.7385	10	0.49607	T	0.09	-16.9174	16.1726	0.81828	0.0:0.0:0.0:1.0	.	209;209	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	E	209	ENSP00000452442:K209E;ENSP00000326921:K209E;ENSP00000450742:K209E	ENSP00000326921:K209E	K	-	1	0	ZFYVE1	72534635	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	6.186000	0.72026	2.232000	0.73038	0.482000	0.46254	AAA		0.493	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		C	73464882	T	C	73464882	3	2	341	1	0	0	0	0	1	0	0	0	17663	1763	61	4	1748	4	ZFYVE1	14	73464882	Missense_Mutation	SNP	T	TCGA-29-1764-01A-01W-0633-09	1259037	73464882	33884658	56	18471											
ALKBH1	8846	genome.wustl.edu	37	14	78161234	78161234	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr14:78161234A>C	ENST00000216489.3	-	3	317	c.302T>G	c.(301-303)tTt>tGt	p.F101C	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	101					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GTTTGGGATAAAAATAAACCC	0.383																																																0			14											45	46	46					14																	78161234		2203	4300	6503	77230987	SO:0001583	missense	8846			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.302T>G	14.37:g.78161234A>C	ENSP00000216489:p.Phe101Cys		77230987	Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541162	0.85917	.	.	ENSG00000100601	ENST00000216489	T	0.11277	2.79	6.17	6.17	0.99709	.	0.088352	0.85682	D	0.000000	T	0.40839	0.1133	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41574	-0.9501	10	0.87932	D	0	-30.8441	16.8222	0.85835	1.0:0.0:0.0:0.0	.	101	Q13686	ALKB1_HUMAN	C	101	ENSP00000216489:F101C	ENSP00000216489:F101C	F	-	2	0	ALKBH1	77230987	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	8.806000	0.91930	2.371000	0.80710	0.533000	0.62120	TTT		0.383	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		C	78161234	A	C	78161234	3	2	341	1	0	0	0	0	1	0	0	0	526	14	1	5	883	5	ALKBH1	14	78161234	Missense_Mutation	SNP	A	TCGA-29-1764-01A-01W-0633-09	4696352	78161234	29188306	57	18472											
LRRK1	79705	genome.wustl.edu	37	15	101606080	101606080	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr15:101606080T>C	ENST00000388948.3	+	32	5797	c.5438T>C	c.(5437-5439)aTc>aCc	p.I1813T	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.I1810T|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGGACTCCATCGCGGACGTG	0.622																																																0			15											55	64	61					15																	101606080		2078	4205	6283	99423603	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5438T>C	15.37:g.101606080T>C	ENSP00000373600:p.Ile1813Thr		99423603		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	6.521	0.464385	0.12402	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72282	-0.62;-0.64	5.5	5.5	0.81552	.	0.645978	0.15492	N	0.259540	T	0.63010	0.2475	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55988	-0.8053	10	0.54805	T	0.06	.	8.8772	0.35352	0.0:0.1456:0.0:0.8544	.	1813	Q38SD2	LRRK1_HUMAN	T	1813;1810;504;367	ENSP00000373600:I1813T;ENSP00000284395:I1810T	ENSP00000284395:I1810T	I	+	2	0	LRRK1	99423603	0.101000	0.21875	0.097000	0.21041	0.372000	0.29890	2.747000	0.47475	2.077000	0.62373	0.533000	0.62120	ATC		0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		C	101606080	T	C	101606080	3	2	341	1	0	0	0	0	1	0	0	0	9032	1435	50	4	5560	4	LRRK1	15	101606080	Missense_Mutation	SNP	T	TCGA-29-1764-01A-01W-0633-09		101606080	925312	58	18473											
MPG	4350	genome.wustl.edu	37	16	135506	135506	+	Silent	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:135506C>G	ENST00000219431.4	+	5	858	c.627C>G	c.(625-627)ctC>ctG	p.L209L	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Silent_p.L192L	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	209					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCCGTGTCCTCAAGGACCGCG	0.632								Base excision repair (BER), DNA glycosylases																																								0			16											47	49	48					16																	135506		2203	4299	6502	75506	SO:0001819	synonymous_variant	4350				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"alkyladenine DNA glycosylase"	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.627C>G	16.37:g.135506C>G			75506	G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	CCDS32346.1																																																																																				0.632	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			G	135506	C	G	135506	2	3	341	1	0	0	0	0	0	0	0	1	9724	813	29	3		3	MPG	16	135506	Silent	SNP	C	TCGA-29-1764-01A-01W-0633-09		135506	90219247	59	18474											
SEC14L5	9717	genome.wustl.edu	37	16	5047036	5047036	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:5047036C>A	ENST00000251170.7	+	8	1141	c.961C>A	c.(961-963)Cag>Aag	p.Q321K		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	321	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CTGGCATTACCAGGACATAGG	0.537																																																0			16											26	26	26					16																	5047036		1951	4123	6074	4987037	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.961C>A	16.37:g.5047036C>A	ENSP00000251170:p.Gln321Lys		4987037		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995837	0.74703	.	.	ENSG00000103184	ENST00000251170	T	0.74842	-0.88	4.66	4.66	0.58398	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.190622	0.36703	N	0.002442	T	0.65322	0.2680	N	0.17474	0.49	0.58432	D	0.999994	B	0.33345	0.409	B	0.38755	0.281	T	0.66097	-0.6008	10	0.39692	T	0.17	-9.6599	18.0897	0.89471	0.0:1.0:0.0:0.0	.	321	O43304	S14L5_HUMAN	K	321	ENSP00000251170:Q321K	ENSP00000251170:Q321K	Q	+	1	0	SEC14L5	4987037	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.379000	0.66196	2.573000	0.86826	0.491000	0.48974	CAG		0.537	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			A	5047036	C	A	5047036	3	1	341	1	0	0	0	0	1	0	0	0	13988	595	21	3	987	3	SEC14L5	16	5047036	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	4911530	5047036	85307717	60	18475											
NDE1	54820	genome.wustl.edu	37	16	15771672	15771672	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:15771672G>A	ENST00000396353.2	+	5	1078	c.252G>A	c.(250-252)gtG>gtA	p.V84V	NDE1_ENST00000396355.1_Silent_p.V84V|NDE1_ENST00000342673.5_Silent_p.V84V|NDE1_ENST00000396354.1_Silent_p.V84V			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	84	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGTTTGAAGTGCAGCACTCTG	0.493																																																0			16											97	86	90					16																	15771672		2197	4300	6497	15679173	SO:0001819	synonymous_variant	54820			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.252G>A	16.37:g.15771672G>A			15679173	Q49AQ2	Silent	SNP	ENST00000396353.2	37																																																																																					0.493	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		A	15771672	G	A	15771672	2	1	341	1	0	0	0	0	0	0	0	1	10243	1306	46	2		2	NDE1	16	15771672	Silent	SNP	G	TCGA-29-1764-01A-01W-0633-09	10724636	15771672	74583081	61	18476											
ACSM2A	123876	genome.wustl.edu	37	16	20497914	20497914	+	Missense_Mutation	SNP	C	C	A	rs571837503		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:20497914C>A	ENST00000573854.1	+	14	1762	c.1648C>A	c.(1648-1650)Ctg>Atg	p.L550M	AC137056.1_ENST00000593357.1_5'Flank|ACSM2A_ENST00000536134.1_Missense_Mutation_p.L322M|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L550M|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L550M|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L550M|ACSM2A_ENST00000417235.2_Missense_Mutation_p.L471M	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	550					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTCTTGAACCTGCCCAAGAC	0.493																																																0			16											155	153	154					16																	20497914		2203	4300	6503	20405415	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1648C>A	16.37:g.20497914C>A	ENSP00000459451:p.Leu550Met		20405415	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400117	0.42613	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	3.74	2.74	0.32292	.	0.000000	0.35235	N	0.003347	T	0.76652	0.4017	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78440	-0.2203	10	0.87932	D	0	-12.2431	9.7068	0.40220	0.0:0.8953:0.0:0.1047	.	550	Q08AH3	ACS2A_HUMAN	M	471;550;322;550	ENSP00000392169:L471M;ENSP00000219054:L550M;ENSP00000445082:L322M;ENSP00000379411:L550M	ENSP00000219054:L550M	L	+	1	2	ACSM2A	20405415	0.990000	0.36364	0.969000	0.41365	0.363000	0.29612	2.935000	0.48963	1.923000	0.55706	0.306000	0.20318	CTG		0.493	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		A	20497914	C	A	20497914	3	1	341	1	0	0	0	0	1	0	0	0	183	680	24	3	1698	3	ACSM2A	16	20497914	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	4726242	20497914	69856839	62	18477											
TOX3	27324	genome.wustl.edu	37	16	52480096	52480096	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr16:52480096T>C	ENST00000219746.9	-	5	1000	c.716A>G	c.(715-717)aAg>aGg	p.K239R	TOX3_ENST00000407228.3_Missense_Mutation_p.K234R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	239					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTTGGGCTTCTTGCCAGAGTC	0.453																																																0			16											45	42	43					16																	52480096		1884	4149	6033	51037597	SO:0001583	missense	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.716A>G	16.37:g.52480096T>C	ENSP00000219746:p.Lys239Arg		51037597	B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589966	0.86851	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.15139	2.45;2.45	5.9	5.9	0.94986	High mobility group, superfamily (1);	0.103913	0.64402	D	0.000004	T	0.45094	0.1325	M	0.80616	2.505	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.98	T	0.40327	-0.9569	10	0.48119	T	0.1	.	16.3317	0.83023	0.0:0.0:0.0:1.0	.	234;239	B4DRD0;O15405	.;TOX3_HUMAN	R	239;234	ENSP00000219746:K239R;ENSP00000385705:K234R	ENSP00000219746:K239R	K	-	2	0	TOX3	51037597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.264000	0.75181	0.533000	0.62120	AAG		0.453	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		C	52480096	T	C	52480096	3	2	341	1	0	0	0	0	1	0	0	0	16379	1609	56	4	1026	4	TOX3	16	52480096	Missense_Mutation	SNP	T	TCGA-29-1764-01A-01W-0633-09	31982182	52480096	37874657	63	18478											
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	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	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	341	1	0	0	0	0	1	0	0	0	16381	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09		7577121	73618089	64	18479											
LRRC37B	114659	genome.wustl.edu	37	17	30348919	30348919	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr17:30348919C>G	ENST00000341671.7	+	1	759	c.754C>G	c.(754-756)Cct>Gct	p.P252A	LRRC37B_ENST00000394713.3_Missense_Mutation_p.P252A|LRRC37B_ENST00000543378.2_Missense_Mutation_p.P170A|LRRC37B_ENST00000327564.7_Missense_Mutation_p.P279A|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P264A	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	252						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCCAGGGCCTCCTGAGCAAGT	0.507																																																0			17											89	105	100					17																	30348919		2201	4298	6499	27373032	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.754C>G	17.37:g.30348919C>G	ENSP00000340519:p.Pro252Ala		27373032	Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	8.256	0.810184	0.16537	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.64803	-0.07;-0.12;0.99;-0.11	1.93	-1.89	0.07689	.	.	.	.	.	T	0.48537	0.1505	M	0.67397	2.05	0.09310	N	1	B;P	0.43788	0.127;0.817	B;B	0.39152	0.009;0.292	T	0.39722	-0.9600	9	0.18276	T	0.48	.	2.0013	0.03467	0.2596:0.3805:0.0:0.3599	.	252;252	Q17RC9;Q96QE4	.;LR37B_HUMAN	A	170;279;252;252	ENSP00000443345:P170A;ENSP00000332536:P279A;ENSP00000378202:P252A;ENSP00000340519:P252A	ENSP00000332536:P279A	P	+	1	0	LRRC37B	27373032	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.146000	0.03191	-0.439000	0.07222	0.299000	0.19835	CCT		0.507	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		G	30348919	C	G	30348919	3	3	341	1	0	0	0	0	1	0	0	0	8994	855	30	3	756	3	LRRC37B	17	30348919	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	22771798	30348919	50846291	65	18480											
SFRS1	6426	genome.wustl.edu	37	17	56083793	56083793	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr17:56083793C>T	ENST00000258962.4	-	2	498	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SRSF1_ENST00000584773.1_Missense_Mutation_p.R97Q|SRSF1_ENST00000582730.2_Missense_Mutation_p.R97Q|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000585096.1_Intron|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	97	Gly-rich (hinge region).				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCGCCGCCTCGGCCTGTTCC	0.647																																																0			17											23	28	26					17																	56083793		2200	4289	6489	53438792	SO:0001583	missense	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.290G>A	17.37:g.56083793C>T	ENSP00000258962:p.Arg97Gln		53438792	B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296957	0.60086	.	.	ENSG00000136450	ENST00000258962	T	0.06294	3.32	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);	0.082940	0.48286	D	0.000191	T	0.06600	0.0169	N	0.25485	0.75	0.54753	D	0.999987	B;B	0.23650	0.011;0.089	B;B	0.15484	0.008;0.013	T	0.45352	-0.9267	10	0.21014	T	0.42	.	19.798	0.96494	0.0:1.0:0.0:0.0	.	129;97	Q59FA2;Q07955	.;SRSF1_HUMAN	Q	97	ENSP00000258962:R97Q	ENSP00000258962:R97Q	R	-	2	0	SRSF1	53438792	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.923000	0.75817	2.765000	0.95021	0.655000	0.94253	CGA		0.647	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		T	56083793	C	T	56083793	3	4	341	1	0	0	0	0	1	0	0	0	14168	884	31	1	522	1	SFRS1	17	56083793	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	25734874	56083793	25111417	66	18481											
LRRC30	339291	genome.wustl.edu	37	18	7232018	7232018	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr18:7232018C>A	ENST00000383467.2	+	1	896	c.882C>A	c.(880-882)taC>taA	p.Y294*		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	294										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCTTCGGCTACCTGAAGGACA	0.582																																																0			18											103	112	109					18																	7232018		1939	4143	6082	7222018	SO:0001587	stop_gained	339291				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.882C>A	18.37:g.7232018C>A	ENSP00000372959:p.Tyr294*		7222018		Nonsense_Mutation	SNP	ENST00000383467.2	37	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453784	0.84209	.	.	ENSG00000206422	ENST00000383467	.	.	.	5.81	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.40865	D	0.983868	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1754	0.54182	0.0:0.8374:0.0:0.1626	.	.	.	.	X	294	.	ENSP00000372959:Y294X	Y	+	3	2	LRRC30	7222018	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.515000	0.35845	2.756000	0.94617	0.655000	0.94253	TAC		0.582	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		A	7232018	C	A	7232018	4	1	341	1	0	0	0	0	0	1	0	0	8985	518	18	3	884	3	LRRC30	18	7232018	Nonsense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09		7232018	70845230	67	18482											
SERPINB13	5275	genome.wustl.edu	37	18	61261713	61261713	+	Missense_Mutation	SNP	G	G	C	rs377348890		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr18:61261713G>C	ENST00000344731.5	+	6	699	c.597G>C	c.(595-597)gaG>gaC	p.E199D	SERPINB13_ENST00000269489.5_Missense_Mutation_p.E199D	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	199					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTAAGGAAGAGAAATTTTGGA	0.408																																																0			18											86	85	85					18																	61261713		2203	4300	6503	59412693	SO:0001583	missense	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.597G>C	18.37:g.61261713G>C	ENSP00000341584:p.Glu199Asp		59412693	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857911	0.32791	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.84442	-1.85;-1.85	5.73	-2.46	0.06461	Serpin domain (3);	0.117465	0.38492	N	0.001668	D	0.85344	0.5675	L	0.42686	1.345	0.09310	N	1	B;P;D	0.76494	0.104;0.798;0.999	B;B;D	0.80764	0.203;0.348;0.994	T	0.77138	-0.2698	10	0.44086	T	0.13	.	8.3489	0.32290	0.5586:0.1117:0.3297:0.0	.	208;117;199	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	D	199;117;199	ENSP00000269489:E199D;ENSP00000341584:E199D	ENSP00000269489:E199D	E	+	3	2	SERPINB13	59412693	0.000000	0.05858	0.583000	0.28640	0.981000	0.71138	-1.429000	0.02437	-0.314000	0.08716	0.655000	0.94253	GAG		0.408	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		C	61261713	G	C	61261713	3	2	341	1	0	0	0	0	1	0	0	0	14103	933	33	3	615	3	SERPINB13	18	61261713	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	54029695	61261713	16815535	68	18483											
SERPINB4	6318	genome.wustl.edu	37	18	61304988	61304988	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr18:61304988T>A	ENST00000341074.5	-	8	1253	c.1138A>T	c.(1138-1140)Agc>Tgc	p.S380C	SERPINB4_ENST00000356424.6_Missense_Mutation_p.S328C	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	380					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AAGAGGATGCTGTTGGTCTTA	0.398																																																0			18											182	176	178					18																	61304988		2203	4300	6503	59455968	SO:0001583	missense	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1138A>T	18.37:g.61304988T>A	ENSP00000343445:p.Ser380Cys		59455968	A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.555844	0.45487	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.85556	-2.0;-2.0	4.51	-1.24	0.09435	Serpin domain (3);	0.572145	0.15774	N	0.245307	D	0.89979	0.6872	M	0.85859	2.78	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.992	T	0.80058	-0.1541	10	0.87932	D	0	.	3.9833	0.09504	0.2591:0.1515:0.0:0.5895	.	380;380;359	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	C	380;328	ENSP00000343445:S380C;ENSP00000348795:S328C	ENSP00000343445:S380C	S	-	1	0	SERPINB4	59455968	0.000000	0.05858	0.033000	0.17914	0.731000	0.41821	0.610000	0.24253	-0.271000	0.09272	-0.315000	0.08773	AGC		0.398	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		A	61304988	T	A	61304988	3	1	341	1	0	0	0	0	1	0	0	0	14106	1580	55	5	38	5	SERPINB4	18	61304988	Missense_Mutation	SNP	T	TCGA-29-1764-01A-01W-0633-09	43275	61304988	16772260	69	18484											
OR7D4	125958	genome.wustl.edu	37	19	9324680	9324680	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr19:9324680G>A	ENST00000308682.2	-	1	862	c.834C>T	c.(832-834)taC>taT	p.Y278Y		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGACCATGGCGTACATCACTG	0.557																																																0			19											70	63	65					19																	9324680		2203	4300	6503	9185680	SO:0001819	synonymous_variant	125958				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.834C>T	19.37:g.9324680G>A			9185680	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	CCDS32901.1																																																																																				0.557	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			A	9324680	G	A	9324680	2	1	341	1	0	0	0	0	0	0	0	1	11220	1140	40	1		1	OR7D4	19	9324680	Silent	SNP	G	TCGA-29-1764-01A-01W-0633-09		9324680	49804303	70	18485											
NLRP4	147945	genome.wustl.edu	37	19	56369885	56369885	+	Missense_Mutation	SNP	G	G	A	rs149428225		TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr19:56369885G>A	ENST00000301295.6	+	3	1548	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	NLRP4_ENST00000587891.1_Missense_Mutation_p.V301I|NLRP4_ENST00000346986.5_Missense_Mutation_p.V376I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	376	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCTCTTTCGTCTTTAACCT	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		17572	0		0	False		,,,				2504	0															0			19						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	53	47	49		1126	-7.1	0	19	dbSNP_134	49	0,8600		0,0,4300	no	missense	NLRP4	NM_134444.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	376/995	56369885	1,13005	2203	4300	6503	61061697	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1126G>A	19.37:g.56369885G>A	ENSP00000301295:p.Val376Ile		61061697	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.070	-1.205152	0.01568	2.27E-4	0.0	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83914	-1.78;-1.78	4.1	-7.05	0.01573	.	.	.	.	.	T	0.52500	0.1738	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.47328	-0.9126	9	0.17832	T	0.49	.	0.214	0.00159	0.3007:0.236:0.2326:0.2307	.	376;301;376	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	376	ENSP00000301295:V376I;ENSP00000344787:V376I	ENSP00000301295:V376I	V	+	1	0	NLRP4	61061697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.483000	0.00980	-1.902000	0.01094	-1.021000	0.02439	GTC		0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56369885	G	A	56369885	3	1	341	1	0	0	0	0	1	0	0	0	10479	1145	40	1	1132	1	NLRP4	19	56369885	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	47045205	56369885	2759098	71	18486											
SEL1L2	80343	genome.wustl.edu	37	20	13830203	13830203	+	Silent	SNP	T	T	C			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr20:13830203T>C	ENST00000284951.5	-	20	2069	c.1995A>G	c.(1993-1995)ccA>ccG	p.P665P	SEL1L2_ENST00000378072.5_Silent_p.P552P|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	665						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGTCCCAGTGTGGTCCAATGG	0.478																																																0			20											164	163	163					20																	13830203		1969	4159	6128	13778203	SO:0001819	synonymous_variant	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1995A>G	20.37:g.13830203T>C			13778203	B4DXX5	Silent	SNP	ENST00000284951.5	37																																																																																					0.478	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		C	13830203	T	C	13830203	2	2	341	1	0	0	0	0	0	0	0	1	14014	1683	59	4		4	SEL1L2	20	13830203	Silent	SNP	T	TCGA-29-1764-01A-01W-0633-09		13830203	49195317	72	18487											
RBM39	9584	genome.wustl.edu	37	20	34300967	34300967	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr20:34300967C>G	ENST00000253363.6	-	12	1171	c.1148G>C	c.(1147-1149)gGc>gCc	p.G383A	RBM39_ENST00000361162.6_Missense_Mutation_p.G383A|RBM39_ENST00000528062.3_Missense_Mutation_p.G361A|RBM39_ENST00000407261.4_Missense_Mutation_p.G226A			Q14498	RBM39_HUMAN	RNA binding motif protein 39	383	Interaction with ESR1 and ESR2. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGCCAAAGAGCCACTCATCTG	0.368																																																0			20											60	57	58					20																	34300967		2203	4300	6503	33764381	SO:0001583	missense	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1148G>C	20.37:g.34300967C>G	ENSP00000253363:p.Gly383Ala		33764381	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.34|17.34	3.364154|3.364154	0.61513|0.61513	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261|ENST00000448303	T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72566|0.72566	0.3476|0.3476	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.27765|.	0.188;0.188;0.069;0.188;0.188|.	B;B;B;B;B|.	0.32928|.	0.074;0.074;0.155;0.119;0.119|.	T|T	0.68202|0.68202	-0.5471|-0.5471	10|5	0.25751|.	T|.	0.34|.	.|.	19.8557|19.8557	0.96758|0.96758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	361;361;383;383;359|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	A|C	383;383;361;226|233	ENSP00000253363:G383A;ENSP00000354437:G383A;ENSP00000436747:G361A;ENSP00000384541:G226A|.	ENSP00000253363:G383A|.	G|W	-|-	2|3	0|0	RBM39|RBM39	33764381|33764381	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	7.731000|7.731000	0.84895|0.84895	2.706000|2.706000	0.92434|0.92434	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.368	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		G	34300967	C	G	34300967	3	3	341	1	0	0	0	0	1	0	0	0	13136	739	26	3	468	3	RBM39	20	34300967	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09	20470764	34300967	28724553	73	18488											
ATP5E	514	genome.wustl.edu	37	20	57605470	57605470	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr20:57605470G>A	ENST00000243997.3	-	2	177	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ATP5E_ENST00000395663.1_Missense_Mutation_p.S16F|ATP5E_ENST00000395659.1_Missense_Mutation_p.S16F	NM_006886.3	NP_008817.1	P56381	ATP5E_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	16					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGATCTGGGAGTATCGGAT	0.403																																																0			20											95	93	93					20																	57605470		2203	4300	6503	57038865	SO:0001583	missense	514			AF077045	CCDS13476.1	20q13.3	2012-10-12			ENSG00000124172	ENSG00000124172		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	838	protein-coding gene	gene with protein product		606153				10727396	Standard	NM_006886		Approved		uc002yal.3	P56381	OTTHUMG00000032854	ENST00000243997.3:c.47C>T	20.37:g.57605470G>A	ENSP00000243997:p.Ser16Phe		57038865	B2RDD0|E1P5H6|Q53XU6	Missense_Mutation	SNP	ENST00000243997.3	37	CCDS13476.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275202	0.80580	.	.	ENSG00000124172	ENST00000243997;ENST00000395663;ENST00000395659	T;T;T	0.79940	-1.32;-1.32;-1.32	5.69	5.69	0.88448	.	0.000000	0.64402	U	0.000018	D	0.90403	0.6996	.	.	.	0.58432	D	0.999995	D	0.69078	0.997	D	0.81914	0.995	D	0.91150	0.4952	9	0.87932	D	0	.	18.7875	0.91961	0.0:0.0:1.0:0.0	.	16	P56381	ATP5E_HUMAN	F	16	ENSP00000243997:S16F;ENSP00000379023:S16F;ENSP00000379019:S16F	ENSP00000243997:S16F	S	-	2	0	ATP5E	57038865	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.102000	0.77005	2.673000	0.90976	0.563000	0.77884	TCC		0.403	ATP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079894.2	NM_001001977		A	57605470	G	A	57605470	3	1	341	1	0	0	0	0	1	0	0	0	1151	1174	41	2	112	2	ATP5E	20	57605470	Missense_Mutation	SNP	G	TCGA-29-1764-01A-01W-0633-09	23304503	57605470	5420050	74	18489											
TRIOBP	11078	genome.wustl.edu	37	22	38120742	38120742	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chr22:38120742C>T	ENST00000406386.3	+	7	2434	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	727					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGTGCCCGACGGGACAATCC	0.582																																																0			22											150	165	160					22																	38120742		1952	4159	6111	36450688	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2179C>T	22.37:g.38120742C>T	ENSP00000384312:p.Arg727Trp		36450688	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211490	0.58343	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21543	2.0	4.63	-0.0702	0.13748	.	.	.	.	.	T	0.18882	0.0453	M	0.62723	1.935	0.09310	N	1	B	0.18610	0.029	B	0.10450	0.005	T	0.31724	-0.9933	9	0.72032	D	0.01	.	3.5752	0.07932	0.3582:0.4464:0.0:0.1954	.	727	Q9H2D6	TARA_HUMAN	W	727	ENSP00000384312:R727W	ENSP00000384312:R727W	R	+	1	2	TRIOBP	36450688	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.674000	0.05233	-0.071000	0.12886	0.400000	0.26472	CGG		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38120742	C	T	38120742	3	4	341	1	0	0	0	0	1	0	0	0	16553	527	19	1	2197	1	TRIOBP	22	38120742	Missense_Mutation	SNP	C	TCGA-29-1764-01A-01W-0633-09		38120742	13183824	75	18490											
HCFC1	3054	genome.wustl.edu	37	X	153222916	153222916	+	Silent	SNP	G	G	A			TCGA-29-1764-01A-01W-0633-09	TCGA-29-1764-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5c2b2f75-5284-4723-89a6-4f0091d5654f	9aa2613a-53d5-49cd-99aa-d44f75f425ce	g.chrX:153222916G>A	ENST00000310441.7	-	13	3168	c.2202C>T	c.(2200-2202)acC>acT	p.T734T	HCFC1_ENST00000354233.3_Silent_p.T665T|HCFC1_ENST00000369984.4_Silent_p.T734T|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	734					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGATGATGGTGGTGGGCT	0.642																																																0			X											95	98	97					X																	153222916		2148	4218	6366	152876110	SO:0001819	synonymous_variant	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2202C>T	X.37:g.153222916G>A			152876110	Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1																																																																																				0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		A	153222916	G	A	153222916	2	1	341	1	0	0	0	0	0	0	0	1	6991	1335	47	2		2	HCFC1	23	153222916	Silent	SNP	G	TCGA-29-1764-01A-01W-0633-09		153222916	2047644	76	18491											
NADK	65220	genome.wustl.edu	37	1	1684347	1684348	+	In_Frame_Ins	INS	-	-	CCT	rs139135464|rs71578334|rs150880809		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:1684347_1684348insCCT	ENST00000341426.5	-	12	1557_1558	c.1336_1337insAGG	c.(1336-1338)ggc>gAGGgc	p.445_446insE	NADK_ENST00000342348.5_In_Frame_Ins_p.413_414insE|NADK_ENST00000344463.4_In_Frame_Ins_p.590_591insE|NADK_ENST00000378625.1_In_Frame_Ins_p.590_591insE|NADK_ENST00000341991.3_In_Frame_Ins_p.445_446insE	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	445	Poly-Glu.			E -> EE (in Ref. 2; BAB14412). {ECO:0000305}.|G -> EG (in Ref. 3; BAH12420). {ECO:0000305}.	ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTTGACCTAGCcctcctcctcc	0.629																																																0			1																																								1674208	SO:0001652	inframe_insertion	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1334_1336dupAGG	1.37:g.1684354_1684356dupCCT	ENSP00000341679:p.Glu445_Glu445dup		1674207	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	In_Frame_Ins	INS	ENST00000341426.5	37	CCDS30565.1																																																																																				0.629	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		CCT	1684348	-	CCT	1684347	7	5	342	1	0	1	1	0	0	0	0	0	10137	739	26	0	7	0	NADK	1	1684347	In_Frame_Ins	INS	-	TCGA-29-1766-01A-01W-0633-09		1684347	247566274	1	18492											
PRAMEF7	441871	genome.wustl.edu	37	1	12980140	12980140	+	Silent	SNP	G	G	A	rs147766966	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:12980140G>A	ENST00000361079.2	+	4	1415	c.1332G>A	c.(1330-1332)agG>agA	p.R444R	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	444					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACTTAAGGCAGCCCAAGA	0.582													g|||	11	0.00219649	0.0083	0	5008	,	,		13888	0		0	False		,,,				2504	0															0			1						G		8,3684		2,4,1840	104	101	102		1332	-3	0	1	dbSNP_134	102	0,7494		0,0,3747	no	coding-synonymous	PRAMEF7	NM_001012277.1		2,4,5587	AA,AG,GG		0.0,0.2167,0.0715		444/475	12980140	8,11178	1846	3747	5593	12902727	SO:0001819	synonymous_variant	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1332G>A	1.37:g.12980140G>A			12902727	B9EIP0	Silent	SNP	ENST00000361079.2	37	CCDS30593.1																																																																																				0.582	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		A	12980140	G	A	12980140	2	1	342	1	0	0	0	0	0	0	0	1	12442	1194	42	2		2	PRAMEF7	1	12980140	Silent	SNP	G	TCGA-29-1766-01A-01W-0633-09	11295793	12980140	236270481	2	18493											
EPHB2	2048	genome.wustl.edu	37	1	23110993	23110993	+	Missense_Mutation	SNP	C	C	T	rs139122679		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:23110993C>T	ENST00000400191.3	+	3	253	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	EPHB2_ENST00000374632.3_Missense_Mutation_p.R79W|EPHB2_ENST00000374630.3_Missense_Mutation_p.R79W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R73W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R79W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	79	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R79W(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGTTTATCCGGCGCCGTGG	0.577																																																1	Substitution - Missense(1)	prostate(1)	1						C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	65	59	61		235,235	4.4	1	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHB2	NM_004442.6,NM_017449.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	79/988,79/987	23110993	1,13005	2203	4300	6503	22983580	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.235C>T	1.37:g.23110993C>T	ENSP00000383053:p.Arg79Trp		22983580	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		.	.	.	.	.	.	.	.	.	.	C	14.40	2.524929	0.44969	0.0	1.16E-4	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81	5.29	4.38	0.52667	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	N	0.11560	0.145	0.58432	D	0.999994	B;B;B;B	0.26318	0.146;0.014;0.014;0.011	B;B;B;B	0.25614	0.062;0.013;0.013;0.008	T	0.53436	-0.8439	10	0.33141	T	0.24	.	14.8179	0.70048	0.0:0.855:0.145:0.0	.	79;79;97;79	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	79;79;79;79;79;73	ENSP00000444174:R79W;ENSP00000363761:R79W;ENSP00000383053:R79W;ENSP00000363763:R79W;ENSP00000363758:R73W	ENSP00000363755:R79W	R	+	1	2	EPHB2	22983580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.609000	0.54117	1.460000	0.47911	0.484000	0.47621	CGG		0.577	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		T	23110993	C	T	23110993	3	4	342	1	0	0	0	0	1	0	0	0	5175	643	23	1	245	1	EPHB2	1	23110993	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	10130853	23110993	226139628	3	18494											
AKR1A1	10327	genome.wustl.edu	37	1	46035615	46035615	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:46035615A>G	ENST00000372070.3	+	10	1712	c.965A>G	c.(964-966)aAt>aGt	p.N322S	AKR1A1_ENST00000351829.4_Missense_Mutation_p.N322S|AKR1A1_ENST00000473038.1_3'UTR	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	322					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	TACCCCTTTAATGACCCGTAC	0.517											OREG0013453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											123	105	111					1																	46035615		2203	4300	6503	45808202	SO:0001583	missense	10327			J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.965A>G	1.37:g.46035615A>G	ENSP00000361140:p.Asn322Ser	936	45808202	A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	CCDS523.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.352492	0.41700	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.31510	1.49;1.49	6.02	4.88	0.63580	NADP-dependent oxidoreductase domain (1);	0.040721	0.85682	D	0.000000	T	0.17238	0.0414	N	0.19112	0.55	0.58432	D	0.999999	B	0.15141	0.012	B	0.10450	0.005	T	0.06588	-1.0818	10	0.02654	T	1	.	12.1691	0.54148	0.9324:0.0:0.0675:0.0	.	322	P14550	AK1A1_HUMAN	S	322	ENSP00000361140:N322S;ENSP00000312606:N322S	ENSP00000312606:N322S	N	+	2	0	AKR1A1	45808202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.864000	0.62990	1.087000	0.41251	0.524000	0.50904	AAT		0.517	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		G	46035615	A	G	46035615	3	3	342	1	0	0	0	0	1	0	0	0	465	101	4	4	995	4	AKR1A1	1	46035615	Missense_Mutation	SNP	A	TCGA-29-1766-01A-01W-0633-09	22924622	46035615	203215006	4	18495											
C1orf87	127795	genome.wustl.edu	37	1	60505812	60505823	+	In_Frame_Del	DEL	GCGTCTTCATTT	GCGTCTTCATTT	-	rs539185288|rs551522403		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	GCGTCTTCATTT	GCGTCTTCATTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:60505812_60505823delGCGTCTTCATTT	ENST00000371201.3	-	5	620_631	c.513_524delAAATGAAGACGC	c.(511-525)acaaatgaagacgct>act	p.NEDA172del	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	172							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGAAGAAAAGCGTCTTCATTTGTTGTCCCAC	0.443																																					NSCLC(75;811 1386 4923 13371 51772)											0			1																																								60278411	SO:0001651	inframe_deletion	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.513_524delAAATGAAGACGC	1.37:g.60505812_60505823delGCGTCTTCATTT	ENSP00000360244:p.Asn172_Ala175del		60278400	Q6ZU07|Q8IVS0	In_Frame_Del	DEL	ENST00000371201.3	37	CCDS614.1																																																																																				0.443	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		-	60505823	GCGTCTTCATTT	-	60505812	7	5	342	1	0	1	0	1	0	0	0	0	2064	971	34	0	1148	0	C1orf87	1	60505812	In_Frame_Del	DEL	GCGTCTTCATTT	TCGA-29-1766-01A-01W-0633-09	14470197	60505812	188744809	5	18496											
LRRC8C	84230	genome.wustl.edu	37	1	90180460	90180460	+	Silent	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:90180460G>C	ENST00000370454.4	+	3	2586	c.2331G>C	c.(2329-2331)ctG>ctC	p.L777L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	777					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GTCGGGCTCTGAAGCGAGCTG	0.398																																																0			1											78	82	80					1																	90180460		2203	4300	6503	89953048	SO:0001819	synonymous_variant	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2331G>C	1.37:g.90180460G>C			89953048	B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	CCDS725.1																																																																																				0.398	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		C	90180460	G	C	90180460	2	2	342	1	0	0	0	0	0	0	0	1	9023	1277	45	3		3	LRRC8C	1	90180460	Silent	SNP	G	TCGA-29-1766-01A-01W-0633-09	29674648	90180460	159070161	6	18497											
AHCYL1	10768	genome.wustl.edu	37	1	110563436	110563436	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr1:110563436C>A	ENST00000369799.5	+	16	1916	c.1549C>A	c.(1549-1551)Ctc>Atc	p.L517I	AHCYL1_ENST00000393614.4_Missense_Mutation_p.L470I|AHCYL1_ENST00000359172.3_Missense_Mutation_p.L470I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	517					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		ATATCTGGGACTCAACAAAAA	0.438																																																0			1											122	125	124					1																	110563436		2203	4300	6503	110364959	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1549C>A	1.37:g.110563436C>A	ENSP00000358814:p.Leu517Ile		110364959	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352343	0.61293	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.75938	-0.98;-0.98;-0.98	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	N	0.21508	0.67	0.80722	D	1	B	0.12630	0.006	B	0.29176	0.099	T	0.53486	-0.8432	10	0.38643	T	0.18	-4.3742	19.69	0.95996	0.0:1.0:0.0:0.0	.	517	O43865	SAHH2_HUMAN	I	517;470;470	ENSP00000358814:L517I;ENSP00000352092:L470I;ENSP00000377238:L470I	ENSP00000352092:L470I	L	+	1	0	AHCYL1	110364959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.157000	0.50716	2.648000	0.89879	0.650000	0.86243	CTC		0.438	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			A	110563436	C	A	110563436	3	1	342	1	0	0	0	0	1	0	0	0	410	565	20	3	1611	3	AHCYL1	1	110563436	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	20382976	110563436	138687185	7	18498											
ITSN2	50618	genome.wustl.edu	37	2	24432884	24432884	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:24432884G>C	ENST00000355123.4	-	35	4719	c.4276C>G	c.(4276-4278)Ctc>Gtc	p.L1426V	ITSN2_ENST00000361999.3_Missense_Mutation_p.L1399V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1426					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTGGTGAGAGAGTTGAAA	0.478																																																0			2											104	105	105					2																	24432884		2203	4300	6503	24286388	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4276C>G	2.37:g.24432884G>C	ENSP00000347244:p.Leu1426Val		24286388	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	6.969	0.548690	0.13312	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.41400	1.0;1.0;1.0	4.26	4.26	0.50523	Pleckstrin homology-type (1);	0.000000	0.32055	U	0.006657	T	0.45115	0.1326	L	0.46885	1.475	0.43211	D	0.995072	P;P	0.50943	0.94;0.901	P;P	0.51135	0.66;0.458	T	0.28870	-1.0030	10	0.10377	T	0.69	.	17.0717	0.86576	0.0:0.0:1.0:0.0	.	1399;1426	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	V	1399;1426;1399	ENSP00000354561:L1399V;ENSP00000347244:L1426V;ENSP00000370250:L1399V	ENSP00000347244:L1426V	L	-	1	0	ITSN2	24286388	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.955000	0.49121	2.102000	0.63906	0.455000	0.32223	CTC		0.478	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		C	24432884	G	C	24432884	3	2	342	1	0	0	0	0	1	0	0	0	7927	942	33	3	841	3	ITSN2	2	24432884	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09		24432884	218766489	8	18499											
BUB1	699	genome.wustl.edu	37	2	111415122	111415122	+	Splice_Site	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:111415122C>T	ENST00000302759.6	-	14	1735		c.e14+1		BUB1_ENST00000535254.1_Splice_Site|BUB1_ENST00000409311.1_Splice_Site	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TATTTTTTTACCCATAATTTT	0.423																																																0			2											58	55	56					2																	111415122		2203	4300	6503	111131595	SO:0001630	splice_region_variant	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1616+1G>A	2.37:g.111415122C>T			111131595	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Splice_Site	SNP	ENST00000302759.6	37	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492534	0.64074	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5466	0.76108	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BUB1	111131595	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	3.713000	0.54882	2.735000	0.93741	0.557000	0.71058	.		0.423	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	Intron	T	111415122	C	T	111415122	5	4	342	1	0	0	0	0	0	0	1	0	1570	521	18	2	1688	2	BUB1	2	111415122	Splice_Site	SNP	C	TCGA-29-1766-01A-01W-0633-09	86982238	111415122	131784251	9	18500											
SAP130	79595	genome.wustl.edu	37	2	128757376	128757376	+	Silent	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:128757376G>A	ENST00000259235.3	-	10	1359	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	SAP130_ENST00000357702.5_Silent_p.T410T|SAP130_ENST00000259234.6_Silent_p.T384T	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	410					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTACTGTCATGGTAACAATGG	0.488																																																0			2											220	193	203					2																	128757376		2203	4300	6503	128473846	SO:0001819	synonymous_variant	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1230C>T	2.37:g.128757376G>A			128473846	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	CCDS2153.1																																																																																				0.488	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		A	128757376	G	A	128757376	2	1	342	1	0	0	0	0	0	0	0	1	13834	1335	47	2		2	SAP130	2	128757376	Silent	SNP	G	TCGA-29-1766-01A-01W-0633-09	17342254	128757376	114441997	10	18501											
POTEF	728378	genome.wustl.edu	37	2	130872529	130872529	+	Nonsense_Mutation	SNP	G	G	C	rs556671650	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:130872529G>C	ENST00000409914.2	-	5	1134	c.735C>G	c.(733-735)taC>taG	p.Y245*	POTEF_ENST00000357462.5_Nonsense_Mutation_p.Y245*|POTEF_ENST00000361163.4_Nonsense_Mutation_p.Y255*|POTEF_ENST00000360967.5_Nonsense_Mutation_p.Y245*	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	245					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TATAGATAGCGTAGTGCAGAG	0.383																																																0			2																																								130588999	SO:0001587	stop_gained	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.735C>G	2.37:g.130872529G>C	ENSP00000386786:p.Tyr245*		130588999	A6NC34	Nonsense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	14.52	2.559016	0.45590	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	.	.	.	1.13	1.13	0.20643	.	0.338132	0.21377	N	0.075523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.1821	0.06588	0.7289:0.0:0.2711:0.0	.	.	.	.	X	245;245;245;255	.	ENSP00000350052:Y245X	Y	-	3	2	POTEF	130588999	0.938000	0.31826	0.022000	0.16811	0.038000	0.13279	-0.315000	0.08081	-0.037000	0.13646	-1.353000	0.01230	TAC		0.383	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		C	130872529	G	C	130872529	4	2	342	1	0	0	0	0	0	1	0	0	12265	1140	40	3	2544	3	POTEF	2	130872529	Nonsense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09	2115153	130872529	112326844	11	18502											
MCM6	4175	genome.wustl.edu	37	2	136627910	136627910	+	Silent	SNP	C	C	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:136627910C>G	ENST00000264156.2	-	3	336	c.276G>C	c.(274-276)cgG>cgC	p.R92R		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	92					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTTTCAAGGCCCGACACAGGT	0.448																																					Ovarian(196;141 2104 8848 24991 25939)											0			2											158	169	165					2																	136627910		2203	4300	6503	136344380	SO:0001819	synonymous_variant	4175				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.276G>C	2.37:g.136627910C>G			136344380	B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	CCDS2179.1																																																																																				0.448	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		G	136627910	C	G	136627910	2	3	342	1	0	0	0	0	0	0	0	1	9391	610	22	3		3	MCM6	2	136627910	Silent	SNP	C	TCGA-29-1766-01A-01W-0633-09	5755381	136627910	106571463	12	18503											
NEB	4703	genome.wustl.edu	37	2	152427044	152427044	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:152427044C>A	ENST00000172853.10	-	80	12129	c.11982G>T	c.(11980-11982)caG>caT	p.Q3994H	NEB_ENST00000409198.1_Missense_Mutation_p.Q3994H|NEB_ENST00000603639.1_Missense_Mutation_p.Q5695H|NEB_ENST00000604864.1_Missense_Mutation_p.Q5695H|NEB_ENST00000427231.2_Missense_Mutation_p.Q5695H|NEB_ENST00000397345.3_Missense_Mutation_p.Q5695H			P20929	NEBU_HUMAN	nebulin	3994					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGGCAGCCTGGATGGGGA	0.502																																																0			2											26	28	27					2																	152427044		1929	4173	6102	152135290	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11982G>T	2.37:g.152427044C>A	ENSP00000172853:p.Gln3994His		152135290	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	17.99	3.522141	0.64747	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	6.17	3.4	0.38934	.	0.353955	0.32473	N	0.006055	T	0.63271	0.2497	M	0.65677	2.01	0.80722	D	1	P;D	0.65815	0.84;0.995	P;D	0.72075	0.811;0.976	T	0.63646	-0.6590	10	0.51188	T	0.08	.	11.3131	0.49375	0.0:0.8008:0.0:0.1992	.	3994;425	P20929;Q14215	NEBU_HUMAN;.	H	3994;5695;5695;43;425;3994	ENSP00000386259:Q3994H;ENSP00000380505:Q5695H;ENSP00000416578:Q5695H;ENSP00000410961:Q425H;ENSP00000172853:Q3994H	ENSP00000172853:Q3994H	Q	-	3	2	NEB	152135290	0.114000	0.22134	1.000000	0.80357	0.992000	0.81027	0.518000	0.22847	0.937000	0.37394	0.655000	0.94253	CAG		0.502	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152427044	C	A	152427044	3	1	342	1	0	0	0	0	1	0	0	0	10302	680	24	3	8901	3	NEB	2	152427044	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	15799134	152427044	90772329	13	18504											
MPP4	58538	genome.wustl.edu	37	2	202539984	202539984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:202539984C>A	ENST00000409474.3	-	11	1147	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	MPP4_ENST00000409143.1_Nonsense_Mutation_p.E287*|MPP4_ENST00000359962.5_Nonsense_Mutation_p.E314*|MPP4_ENST00000447335.2_Nonsense_Mutation_p.E314*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.E301*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.E270*|MPP4_ENST00000428900.2_Nonsense_Mutation_p.E314*	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	314					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						CACCAGAATTCCCGTTGCTTC	0.468																																																0			2											54	55	55					2																	202539984		1901	4109	6010	202248229	SO:0001587	stop_gained	58538			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.940G>T	2.37:g.202539984C>A	ENSP00000387278:p.Glu314*		202248229	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Nonsense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	C	37	6.183377	0.97357	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	.	.	.	4.65	3.77	0.43336	.	0.295249	0.30602	N	0.009273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.7335	0.57210	0.0:0.9206:0.0:0.0794	.	.	.	.	X	314;301;270;314;243;314;287;314	.	ENSP00000319363:E301X	E	-	1	0	MPP4	202248229	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	5.510000	0.67018	1.189000	0.43028	0.555000	0.69702	GAA		0.468	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			A	202539984	C	A	202539984	4	1	342	1	0	0	0	0	0	1	0	0	9736	864	30	3	1021	3	MPP4	2	202539984	Nonsense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	50112940	202539984	40659389	14	18505											
VIL1	7429	genome.wustl.edu	37	2	219293015	219293015	+	Silent	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr2:219293015C>T	ENST00000248444.5	+	6	610	c.522C>T	c.(520-522)atC>atT	p.I174I	VIL1_ENST00000440053.1_Silent_p.I174I|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	174	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGCTTATCATCCAGTGGA	0.567																																																0			2											132	122	125					2																	219293015		2203	4300	6503	219001259	SO:0001819	synonymous_variant	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.522C>T	2.37:g.219293015C>T			219001259	B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	CCDS2417.1																																																																																				0.567	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		T	219293015	C	T	219293015	2	4	342	1	0	0	0	0	0	0	0	1	17164	816	29	2		2	VIL1	2	219293015	Silent	SNP	C	TCGA-29-1766-01A-01W-0633-09	16753031	219293015	23906358	15	18506											
SCN5A	6331	genome.wustl.edu	37	3	38674641	38674641	+	Missense_Mutation	SNP	C	C	T	rs199473049		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr3:38674641C>T	ENST00000333535.4	-	2	307	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	SCN5A_ENST00000414099.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R53Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R53Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R53Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R53Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	53					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTGGGGCCGGGGAGCCTC	0.652																																																0			3											25	29	28					3																	38674641		1899	4108	6007	38649645	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.158G>A	3.37:g.38674641C>T	ENSP00000328968:p.Arg53Gln		38649645	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355696	0.41700	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000327956	T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.55	1.78	0.24846	.	0.316385	0.34178	N	0.004182	T	0.62998	0.2474	N	0.13371	0.34	0.30027	N	0.813837	B;B;B;B;B;B	0.14805	0.001;0.0;0.001;0.0;0.011;0.001	B;B;B;B;B;B	0.13407	0.001;0.0;0.001;0.001;0.009;0.002	T	0.56878	-0.7906	10	0.51188	T	0.08	.	8.3303	0.32182	0.0:0.6058:0.0:0.3942	.	53;53;53;53;53;53	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	Q	53	ENSP00000398962:R53Q;ENSP00000398266:R53Q;ENSP00000410257:R53Q;ENSP00000388797:R53Q;ENSP00000397915:R53Q;ENSP00000416634:R53Q;ENSP00000328968:R53Q;ENSP00000399524:R53Q;ENSP00000403355:R53Q;ENSP00000413996:R53Q;ENSP00000333674:R53Q	ENSP00000333674:R53Q	R	-	2	0	SCN5A	38649645	0.011000	0.17503	1.000000	0.80357	0.973000	0.67179	-0.876000	0.04201	0.176000	0.19873	-0.320000	0.08662	CGG		0.652	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		T	38674641	C	T	38674641	3	4	342	1	0	0	0	0	1	0	0	0	13925	652	23	1	6096	1	SCN5A	3	38674641	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09		38674641	159347789	16	18507											
MECOM	2122	genome.wustl.edu	37	3	169098995	169098995	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr3:169098995C>A	ENST00000494292.1	-	2	452	c.355G>T	c.(355-357)Gac>Tac	p.D119Y	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	119					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TAACTGGGGTCTTTCAGGTTT	0.403																																																0			3											92	89	90					3																	169098995		1862	4105	5967	170581689	SO:0001583	missense	4197			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.355G>T	3.37:g.169098995C>A	ENSP00000417899:p.Asp119Tyr		170581689	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000494292.1	37		.	.	.	.	.	.	.	.	.	.	C	13.01	2.108241	0.37242	.	.	ENSG00000085276	ENST00000494292	T	0.55413	0.52	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000009	T	0.69495	0.3117	M	0.65975	2.015	0.80722	D	1	D;P	0.67145	0.996;0.815	D;B	0.68943	0.961;0.428	T	0.72481	-0.4280	10	0.87932	D	0	.	14.7634	0.69621	0.0:0.8559:0.1441:0.0	.	119;119	Q13465;Q03112-3	MDS1_HUMAN;.	Y	119	ENSP00000417899:D119Y	ENSP00000417899:D119Y	D	-	1	0	MECOM	170581689	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.609000	0.61148	2.535000	0.85469	0.650000	0.86243	GAC		0.403	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	NM_005241, NM_004991		A	169098995	C	A	169098995	3	1	342	1	0	0	0	0	1	0	0	0	9422	913	32	3	3438	3	MECOM	3	169098995	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	130424354	169098995	28923435	17	18508											
UNC5C	8633	genome.wustl.edu	37	4	96163622	96163622	+	Missense_Mutation	SNP	C	C	T	rs371874775		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr4:96163622C>T	ENST00000453304.1	-	7	1414	c.1066G>A	c.(1066-1068)Gtc>Atc	p.V356I	UNC5C_ENST00000506749.1_Missense_Mutation_p.V356I	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	356	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GATTGCAAGACGAGGCCGTCG	0.547																																																0			4						C	ILE/VAL	0,4406		0,0,2203	61	52	55		1066	5.1	1	4		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC5C	NM_003728.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	356/932	96163622	1,13005	2203	4300	6503	96382645	SO:0001583	missense	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1066G>A	4.37:g.96163622C>T	ENSP00000406022:p.Val356Ile		96382645	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055527	0.75960	0.0	1.16E-4	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.60672	0.17;0.17;0.17	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	L	0.49126	1.545	0.80722	D	1	P;D;D	0.71674	0.848;0.998;0.996	B;P;P	0.59761	0.34;0.863;0.824	T	0.64597	-0.6370	10	0.35671	T	0.21	.	19.0716	0.93140	0.0:1.0:0.0:0.0	.	356;356;356	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	I	356;315;356;356	ENSP00000406022:V356I;ENSP00000426924:V356I;ENSP00000426153:V356I	ENSP00000328673:V315I	V	-	1	0	UNC5C	96382645	0.991000	0.36638	0.998000	0.56505	0.996000	0.88848	3.755000	0.55197	2.805000	0.96524	0.655000	0.94253	GTC		0.547	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		T	96163622	C	T	96163622	3	4	342	1	0	0	0	0	1	0	0	0	16993	536	19	1	1769	1	UNC5C	4	96163622	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09		96163622	94990654	18	18509											
EXOC3	11336	genome.wustl.edu	37	5	454059	454059	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:454059C>G	ENST00000512944.1	+	4	1128	c.939C>G	c.(937-939)aaC>aaG	p.N313K	EXOC3_ENST00000315013.5_Missense_Mutation_p.N313K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	324					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACCTCCTGAACATGTACCACC	0.498																																																0			5											54	54	54					5																	454059		2064	4210	6274	507059	SO:0001583	missense	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.939C>G	5.37:g.454059C>G	ENSP00000425587:p.Asn313Lys		507059	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.611763	0.00120	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.06218	3.33;3.33	5.8	1.89	0.25635	.	1.235360	0.05162	N	0.498009	T	0.03305	0.0096	N	0.11427	0.14	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.40979	-0.9534	10	0.06099	T	0.92	-0.0488	5.0846	0.14675	0.2587:0.5282:0.0:0.2131	.	324	O60645	EXOC3_HUMAN	K	313;313;323	ENSP00000425587:N313K;ENSP00000323377:N313K	ENSP00000323377:N313K	N	+	3	2	EXOC3	507059	0.030000	0.19436	0.119000	0.21687	0.604000	0.37047	0.311000	0.19380	0.065000	0.16485	-1.598000	0.00824	AAC		0.498	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		G	454059	C	G	454059	3	3	342	1	0	0	0	0	1	0	0	0	5303	477	17	3	949	3	EXOC3	5	454059	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09		454059	180461201	19	18510											
BASP1	10409	genome.wustl.edu	37	5	17275538	17275538	+	Silent	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:17275538C>T	ENST00000322611.3	+	2	473	c.213C>T	c.(211-213)ggC>ggT	p.G71G		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	71					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						AGAAGGAGGGCGAGAAGGACG	0.736																																																0			5											20	28	25					5																	17275538		2139	4173	6312	17328538	SO:0001819	synonymous_variant	10409			AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.213C>T	5.37:g.17275538C>T			17328538	B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	CCDS3888.1																																																																																				0.736	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			T	17275538	C	T	17275538	2	4	342	1	0	0	0	0	0	0	0	1	1317	755	27	1		1	BASP1	5	17275538	Silent	SNP	C	TCGA-29-1766-01A-01W-0633-09	16821479	17275538	163639722	20	18511											
HOMER1	9456	genome.wustl.edu	37	5	78752821	78752821	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:78752821G>A	ENST00000334082.6	-	2	1468	c.26C>T	c.(25-27)aCt>aTt	p.T9I	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.T9I|HOMER1_ENST00000508576.1_Missense_Mutation_p.T9I	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	9	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATGAGCTCGAGTGCTGAAGAT	0.433																																																0			5											226	211	216					5																	78752821		1904	4123	6027	78788577	SO:0001583	missense	9456			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.26C>T	5.37:g.78752821G>A	ENSP00000334382:p.Thr9Ile		78788577	B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152030	0.78001	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98901	-5.22;-5.22;-5.22	5.93	5.93	0.95920	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	M	0.80616	2.505	0.80722	D	1	P;P;D	0.65815	0.933;0.836;0.995	P;P;D	0.69307	0.789;0.605;0.963	D	0.99793	1.1032	10	0.87932	D	0	-5.0564	20.3368	0.98748	0.0:0.0:1.0:0.0	.	9;9;9	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	I	9	ENSP00000334382:T9I;ENSP00000426651:T9I;ENSP00000282260:T9I	ENSP00000282260:T9I	T	-	2	0	HOMER1	78788577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	ACT		0.433	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		A	78752821	G	A	78752821	3	1	342	1	0	0	0	0	1	0	0	0	7278	1029	36	2	1070	2	HOMER1	5	78752821	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09	61477283	78752821	102162439	21	18512											
PCDHA4	56144	genome.wustl.edu	37	5	140188137	140188137	+	Silent	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:140188137C>T	ENST00000530339.1	+	1	1365	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.F455F|PCDHA4_ENST00000356878.4_Silent_p.F455F|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCGTTCGCGCAGCCCG	0.657																																																0			5											69	71	70					5																	140188137		2203	4300	6503	140168321	SO:0001819	synonymous_variant	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1365C>T	5.37:g.140188137C>T			140168321	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																				0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140188137	C	T	140188137	2	4	342	1	0	0	0	0	0	0	0	1	11526	883	31	1		1	PCDHA4	5	140188137	Silent	SNP	C	TCGA-29-1766-01A-01W-0633-09	61435316	140188137	40727123	22	18513											
PCDHB4	56131	genome.wustl.edu	37	5	140503049	140503049	+	Missense_Mutation	SNP	T	T	C	rs546115877		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr5:140503049T>C	ENST00000194152.1	+	1	1469	c.1469T>C	c.(1468-1470)cTg>cCg	p.L490P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTCGCTGCTGCCGCCCCAG	0.672													T|||	1	0.000199681	0	0	5008	,	,		14235	0.001		0	False		,,,				2504	0															0			5											36	42	40					5																	140503049		2194	4278	6472	140483233	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1469T>C	5.37:g.140503049T>C	ENSP00000194152:p.Leu490Pro		140483233	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.465634	0.43839	.	.	ENSG00000081818	ENST00000194152	T	0.58358	0.34	4.1	4.1	0.47936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68641	0.3023	M	0.76328	2.33	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.71431	-0.4595	9	0.72032	D	0.01	.	9.0856	0.36579	0.0:0.0903:0.0:0.9097	.	490	Q9Y5E5	PCDB4_HUMAN	P	490	ENSP00000194152:L490P	ENSP00000194152:L490P	L	+	2	0	PCDHB4	140483233	0.016000	0.18221	1.000000	0.80357	0.787000	0.44495	1.594000	0.36697	1.872000	0.54250	0.529000	0.55759	CTG		0.672	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		C	140503049	T	C	140503049	3	2	342	1	0	0	0	0	1	0	0	0	11544	1580	55	4	1471	4	PCDHB4	5	140503049	Missense_Mutation	SNP	T	TCGA-29-1766-01A-01W-0633-09	314912	140503049	40412211	23	18514											
HIST1H4K	8362	genome.wustl.edu	37	6	27799058	27799058	+	Missense_Mutation	SNP	G	G	T	rs561516608|rs372460457	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr6:27799058G>T	ENST00000357549.2	-	1	247	c.248C>A	c.(247-249)aCc>aAc	p.T83N		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	83					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						ATCCATGGCGGTGACCGTCTT	0.592																																																0			6											25	27	26					6																	27799058		2199	4276	6475	27907037	SO:0001583	missense	8362			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.248C>A	6.37:g.27799058G>T	ENSP00000350159:p.Thr83Asn		27907037	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	28.9	4.959418	0.92726	.	.	ENSG00000197914	ENST00000357549	T	0.72394	-0.65	4.25	4.25	0.50352	.	0.000000	0.53938	U	0.000047	T	0.77123	0.4084	.	.	.	0.38745	D	0.953985	.	.	.	.	.	.	T	0.81833	-0.0751	7	0.87932	D	0	.	16.0265	0.80548	0.0:0.0:1.0:0.0	.	.	.	.	N	83	ENSP00000350159:T83N	ENSP00000350159:T83N	T	-	2	0	HIST1H4K	27907037	1.000000	0.71417	0.913000	0.36048	0.894000	0.52154	6.938000	0.75904	2.064000	0.61679	0.650000	0.86243	ACC		0.592	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		T	27799058	G	T	27799058	3	4	342	1	0	0	0	0	1	0	0	0	7175	1261	44	3	67	3	HIST1H4K	6	27799058	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09		27799058	143316009	24	18515											
OR2J2	26707	genome.wustl.edu	37	6	29142134	29142134	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr6:29142134C>T	ENST00000377167.2	+	1	824	c.722C>T	c.(721-723)aCa>aTa	p.T241I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTGTTTAGGACATGTGGAGCC	0.463																																																0			6											136	120	125					6																	29142134		1939	4139	6078	29250113	SO:0001583	missense	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.722C>T	6.37:g.29142134C>T	ENSP00000366372:p.Thr241Ile		29250113	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080209	0.20309	.	.	ENSG00000204700	ENST00000377167	T	0.42513	0.97	2.0	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.58850	0.2151	H	0.94658	3.565	0.25814	N	0.98437	D	0.54397	0.966	P	0.61874	0.895	T	0.51450	-0.8704	9	0.72032	D	0.01	.	10.7841	0.46395	0.0:1.0:0.0:0.0	.	241	O76002	OR2J2_HUMAN	I	241	ENSP00000366372:T241I	ENSP00000366372:T241I	T	+	2	0	OR2J2	29250113	0.760000	0.28428	0.615000	0.29064	0.643000	0.38383	0.603000	0.24149	1.101000	0.41535	0.205000	0.17691	ACA		0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			T	29142134	C	T	29142134	3	4	342	1	0	0	0	0	1	0	0	0	11003	478	17	2	724	2	OR2J2	6	29142134	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	1343076	29142134	141972933	25	18516											
SLC39A7	7922	genome.wustl.edu	37	6	33171486	33171486	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr6:33171486T>G	ENST00000374677.3	+	7	1679	c.1306T>G	c.(1306-1308)Ttg>Gtg	p.L436V	HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.L436V|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	436				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGTGTCTGTGTTGCCCGAGCT	0.562																																																0			6											111	114	113					6																	33171486		2064	4204	6268	33279464	SO:0001583	missense	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1306T>G	6.37:g.33171486T>G	ENSP00000363809:p.Leu436Val		33279464	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442609	0.43326	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.60920	0.15;0.15	4.69	-0.423	0.12325	.	0.090054	0.43919	D	0.000518	T	0.34716	0.0907	L	0.37630	1.12	0.47819	D	0.999523	P;P	0.46395	0.877;0.875	P;P	0.52646	0.705;0.705	T	0.21793	-1.0235	10	0.36615	T	0.2	-13.3212	4.2761	0.10809	0.1656:0.3945:0.0:0.4399	.	417;436	B4DVK8;Q92504	.;S39A7_HUMAN	V	436;417;341;436	ENSP00000363807:L436V;ENSP00000363809:L436V	ENSP00000363807:L436V	L	+	1	2	SLC39A7	33279464	0.987000	0.35691	0.992000	0.48379	0.794000	0.44872	0.156000	0.16382	-0.211000	0.10124	-0.398000	0.06409	TTG		0.562	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		G	33171486	T	G	33171486	3	3	342	1	0	0	0	0	1	0	0	0	14626	1722	60	5	1332	5	SLC39A7	6	33171486	Missense_Mutation	SNP	T	TCGA-29-1766-01A-01W-0633-09	4029352	33171486	137943581	26	18517											
MDN1	23195	genome.wustl.edu	37	6	90513105	90513105	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr6:90513105G>A	ENST00000369393.3	-	2	386	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	MDN1_ENST00000428876.1_Missense_Mutation_p.H91Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	91					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCCGTTCATGCAGATCATGG	0.473																																																0			6											276	241	253					6																	90513105		2203	4300	6503	90569826	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.271C>T	6.37:g.90513105G>A	ENSP00000358400:p.His91Tyr		90569826	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287122	0.59867	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.29142	1.58;1.58;1.58	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.71581	2.175	0.54753	D	0.999989	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.777	T	0.27262	-1.0079	10	0.15066	T	0.55	.	18.1575	0.89696	0.0:0.0:1.0:0.0	.	91;91	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	Y	91	ENSP00000358400:H91Y;ENSP00000413970:H91Y;ENSP00000409664:H91Y	ENSP00000358400:H91Y	H	-	1	0	MDN1	90569826	1.000000	0.71417	0.974000	0.42286	0.922000	0.55478	9.226000	0.95229	2.367000	0.80283	0.305000	0.20034	CAT		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90513105	G	A	90513105	3	1	342	1	0	0	0	0	1	0	0	0	9415	1319	46	2	16923	2	MDN1	6	90513105	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09	57341619	90513105	80601962	27	18518											
ZNF138	7697	genome.wustl.edu	37	7	64292443	64292443	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr7:64292443G>C	ENST00000359735.3	+	4	999	c.652G>C	c.(652-654)Gaa>Caa	p.E218Q	ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000397136.2_Missense_Mutation_p.E218Q|ZNF138_ENST00000437743.1_Missense_Mutation_p.E243Q|ZNF138_ENST00000440155.2_Missense_Mutation_p.E249Q|ZNF138_ENST00000307355.7_Missense_Mutation_p.E275Q|ZNF138_ENST00000440598.1_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	218					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)			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				AATTCATACTGAAGAGAAACC	0.378																																																0			7											45	48	47					7																	64292443		2203	4300	6503	63929878	SO:0001583	missense	7697			U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"Zinc fingers, C2H2-type", "-"	12922	protein-coding gene	gene with protein product		604080	"zinc finger protein 138 (clone pHZ-32)"				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.652G>C	7.37:g.64292443G>C	ENSP00000352770:p.Glu218Gln		63929878	B4DFX2|B4DP87|E9PHI7|E9PHK7	Missense_Mutation	SNP	ENST00000359735.3	37		.	.	.	.	.	.	.	.	.	.	.	11.61	1.690324	0.29962	.	.	ENSG00000197008	ENST00000307355;ENST00000359735;ENST00000440155;ENST00000437743;ENST00000397136	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43010	0.1228	L	0.37750	1.13	0.23266	N	0.998011	B;B;B	0.29671	0.166;0.166;0.254	B;B;B	0.35182	0.102;0.197;0.197	T	0.44143	-0.9347	9	0.87932	D	0	.	6.9971	0.24789	0.0:0.0:1.0:0.0	.	249;243;218	E9PHI7;E7EWC5;P52744	.;.;ZN138_HUMAN	Q	275;218;249;243;218	ENSP00000303533:E275Q;ENSP00000352770:E218Q;ENSP00000407262:E249Q;ENSP00000399528:E243Q;ENSP00000380325:E218Q	ENSP00000303533:E275Q	E	+	1	0	ZNF138	63929878	0.500000	0.26091	0.008000	0.14137	0.008000	0.06430	3.738000	0.55067	0.192000	0.20272	0.195000	0.17529	GAA		0.378	ZNF138-201	KNOWN	basic	protein_coding	protein_coding		NM_006524		C	64292443	G	C	64292443	3	2	342	1	0	0	0	0	1	0	0	0	17727	1291	45	3	978	3	ZNF138	7	64292443	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09		64292443	94846220	28	18519											
WDR60	55112	genome.wustl.edu	37	7	158711561	158711561	+	Splice_Site	SNP	G	G	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr7:158711561G>T	ENST00000407559.3	+	15	2079		c.e15+1			NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60						cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTCCTTCAAAGTAAGAGGCTG	0.383																																																0			7											53	52	52					7																	158711561		1842	4098	5940	158404322	SO:0001630	splice_region_variant	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1921+1G>T	7.37:g.158711561G>T			158404322	Q9NW58	Splice_Site	SNP	ENST00000407559.3	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954210	0.34471	.	.	ENSG00000126870	ENST00000407559	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2761	0.82644	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR60	158404322	1.000000	0.71417	0.921000	0.36526	0.131000	0.20780	7.431000	0.80335	2.493000	0.84123	0.462000	0.41574	.		0.383	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051	Intron	T	158711561	G	T	158711561	5	4	342	1	0	0	0	0	0	0	1	0	17311	1043	36	3	1980	3	WDR60	7	158711561	Splice_Site	SNP	G	TCGA-29-1766-01A-01W-0633-09	94419118	158711561	427102	29	18520											
RAB11FIP1	80223	genome.wustl.edu	37	8	37720446	37720446	+	Silent	SNP	C	C	T	rs142729002	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr8:37720446C>T	ENST00000330843.4	-	6	3831	c.3819G>A	c.(3817-3819)ccG>ccA	p.P1273P	RAB11FIP1_ENST00000522727.1_Silent_p.P491P|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Silent_p.P639P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1273	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for interaction with RAB4A and RAB11A, subcellular location and endosomal recycling.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAACCTGAGTCGGGATGCGGA	0.493																																																0			8						C	,	0,4406		0,0,2203	159	149	153		3819,1917	-12.3	0	8	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	RAB11FIP1	NM_001002814.2,NM_025151.4	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1273/1284,639/650	37720446	2,13004	2203	4300	6503	37839604	SO:0001819	synonymous_variant	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3819G>A	8.37:g.37720446C>T			37839604	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	CCDS34882.1																																																																																				0.493	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		T	37720446	C	T	37720446	2	4	342	1	0	0	0	0	0	0	0	1	12896	871	31	1		1	RAB11FIP1	8	37720446	Silent	SNP	C	TCGA-29-1766-01A-01W-0633-09		37720446	108643576	30	18521											
KCNV2	169522	genome.wustl.edu	37	9	2718278	2718278	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr9:2718278G>C	ENST00000382082.3	+	1	777	c.539G>C	c.(538-540)cGc>cCc	p.R180P		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	180					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGTCCGCGCCGCTTCCTGGAG	0.657																																																0			9											19	17	18					9																	2718278		2200	4290	6490	2708278	SO:0001583	missense	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.539G>C	9.37:g.2718278G>C	ENSP00000371514:p.Arg180Pro		2708278	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	8.191	0.796010	0.16327	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.76839	-1.05	4.91	3.08	0.35506	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.226336	0.52532	D	0.000077	T	0.65460	0.2693	N	0.24115	0.695	0.20926	N	0.99982	P	0.34757	0.467	B	0.36959	0.237	T	0.57051	-0.7877	10	0.46703	T	0.11	.	11.2399	0.48964	0.1354:0.0:0.8646:0.0	.	180	Q8TDN2	KCNV2_HUMAN	P	180	ENSP00000371514:R180P	ENSP00000371514:R180P	R	+	2	0	KCNV2	2708278	0.766000	0.28496	0.611000	0.29010	0.130000	0.20726	1.279000	0.33191	0.492000	0.27815	0.407000	0.27541	CGC		0.657	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		C	2718278	G	C	2718278	3	2	342	1	0	0	0	0	1	0	0	0	8095	1087	38	3	541	3	KCNV2	9	2718278	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09		2718278	138495153	31	18522											
TRPM3	80036	genome.wustl.edu	37	9	73736156	73736156	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr9:73736156G>T	ENST00000377111.2	-	1	358	c.115C>A	c.(115-117)Cta>Ata	p.L39I	TRPM3_ENST00000377110.3_Missense_Mutation_p.L39I|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000423814.3_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	39					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTCCAGTTTAGGGGTCGAGGA	0.488																																																0			9											92	94	94					9																	73736156		1947	4146	6093	72925976	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.115C>A	9.37:g.73736156G>T	ENSP00000366315:p.Leu39Ile		72925976	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	G	14.98	2.695866	0.48202	.	.	ENSG00000083067	ENST00000377111;ENST00000377110	T;T	0.59364	0.27;0.45	5.54	5.54	0.83059	.	.	.	.	.	T	0.58736	0.2143	N	0.08118	0	0.80722	D	1	P;D;D	0.56035	0.458;0.974;0.974	B;D;D	0.67725	0.364;0.953;0.953	T	0.65348	-0.6190	9	0.46703	T	0.11	.	18.063	0.89383	0.0:0.0:1.0:0.0	.	39;39;39	Q9HCF6;Q9HCF6-2;Q9HCF6-10	TRPM3_HUMAN;.;.	I	39	ENSP00000366315:L39I;ENSP00000366314:L39I	ENSP00000366314:L39I	L	-	1	2	TRPM3	72925976	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.104000	0.71498	2.619000	0.88677	0.455000	0.32223	CTA		0.488	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		T	73736156	G	T	73736156	3	4	342	1	0	0	0	0	1	0	0	0	16587	991	35	3	5231	3	TRPM3	9	73736156	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09	71017878	73736156	67477275	32	18523											
USP54	159195	genome.wustl.edu	37	10	75276724	75276724	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr10:75276724T>C	ENST00000339859.4	-	19	3560	c.3460A>G	c.(3460-3462)Agt>Ggt	p.S1154G	USP54_ENST00000394811.2_Missense_Mutation_p.S242G|USP54_ENST00000422491.2_Missense_Mutation_p.S336G|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.S1004G|USP54_ENST00000408019.1_Missense_Mutation_p.S1154G			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1154					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTGACAAACTTCTATCCTTG	0.502																																					Colon(195;880 2046 8854 25025 38456)											0			10											118	117	117					10																	75276724		2203	4300	6503	74946730	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3460A>G	10.37:g.75276724T>C	ENSP00000345216:p.Ser1154Gly		74946730	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	T	7.455	0.643429	0.14451	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.26067	1.83;1.83;1.82;1.76;1.77	5.64	4.48	0.54585	.	.	.	.	.	T	0.18800	0.0451	L	0.29908	0.895	0.80722	D	1	P;B	0.41848	0.763;0.104	B;B	0.37144	0.242;0.024	T	0.01956	-1.1240	9	0.62326	D	0.03	-0.2807	11.4793	0.50316	0.0:0.0:0.2847:0.7153	.	336;1154	E7EW90;Q70EL1	.;UBP54_HUMAN	G	1154;1154;1004;242;336	ENSP00000345216:S1154G;ENSP00000386080:S1154G;ENSP00000408714:S1004G;ENSP00000378290:S242G;ENSP00000407368:S336G	ENSP00000345216:S1154G	S	-	1	0	USP54	74946730	0.984000	0.35163	0.993000	0.49108	0.035000	0.12851	1.168000	0.31859	0.935000	0.37341	0.533000	0.62120	AGT		0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		C	75276724	T	C	75276724	3	2	342	1	0	0	0	0	1	0	0	0	17085	1609	56	4	1614	4	USP54	10	75276724	Missense_Mutation	SNP	T	TCGA-29-1766-01A-01W-0633-09		75276724	60258023	33	18524											
OLFML1	283298	genome.wustl.edu	37	11	7509386	7509386	+	Missense_Mutation	SNP	C	C	T	rs141351486	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr11:7509386C>T	ENST00000329293.3	+	2	552	c.158C>T	c.(157-159)aCg>aTg	p.T53M	OLFML1_ENST00000530135.1_Missense_Mutation_p.T53M|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Intron	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	53						extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACCCAAGCAACGAGGGCATAC	0.358													C|||	6	0.00119808	0	0.0014	5008	,	,		18376	0		0.003	False		,,,				2504	0.002															0			11						C	MET/THR	3,4399	6.2+/-15.9	0,3,2198	61	60	60		158	5.8	0.9	11	dbSNP_134	60	43,8549	28.5+/-78.6	1,41,4254	yes	missense	OLFML1	NM_198474.3	81	1,44,6452	TT,TC,CC		0.5005,0.0682,0.354	probably-damaging	53/403	7509386	46,12948	2201	4296	6497	7465962	SO:0001583	missense	283298			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.158C>T	11.37:g.7509386C>T	ENSP00000332511:p.Thr53Met		7465962	B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	CCDS7779.1	4|4	0.0018315018315018315|0.0018315018315018315	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	C|C	37|37	6.029571|6.029571	0.97216|0.97216	6.82E-4|6.82E-4	0.005005|0.005005	ENSG00000183801|ENSG00000183801	ENST00000534244|ENST00000530135;ENST00000329293	.|D;D	.|0.88354	.|-2.37;-2.37	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.312904	.|0.31721	.|N	.|0.007169	.|D	.|0.90259	.|0.6954	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.61722	.|0.893;0.893	.|D	.|0.91030	.|0.4863	.|10	0.02654|0.66056	T|D	1|0.02	.|.	15.4679|15.4679	0.75416|0.75416	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|53;53	.|Q6UWY5;Q5HYE3	.|OLFL1_HUMAN;.	X|M	52|53	.|ENSP00000433455:T53M;ENSP00000332511:T53M	ENSP00000431558:R52X|ENSP00000332511:T53M	R|T	+|+	1|2	2|0	OLFML1|OLFML1	7465962|7465962	0.676000|0.676000	0.27567|0.27567	0.950000|0.950000	0.38849|0.38849	0.739000|0.739000	0.42172|0.42172	1.470000|1.470000	0.35354|0.35354	2.727000|2.727000	0.93392|0.93392	0.650000|0.650000	0.86243|0.86243	CGA|ACG		0.358	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		T	7509386	C	T	7509386	3	4	342	1	0	0	0	0	1	0	0	0	10856	536	19	1	164	1	OLFML1	11	7509386	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09		7509386	127497130	34	18525											
CCDC34	91057	genome.wustl.edu	37	11	27360369	27360369	+	Nonstop_Mutation	SNP	T	T	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr11:27360369T>A	ENST00000328697.6	-	6	1794	c.1121A>T	c.(1120-1122)tAg>tTg	p.*374L	CCDC34_ENST00000529615.1_Intron	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	0										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CCACATACGCTATCTTTGTAT	0.348																																																0			11											114	111	112					11																	27360369		2202	4299	6501	27316945	SO:0001578	stop_lost	91057			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.1121A>T	11.37:g.27360369T>A			27316945	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Nonstop_Mutation	SNP	ENST00000328697.6	37	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600710	0.66332	.	.	ENSG00000109881	ENST00000328697	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5408	0.39251	0.0:0.0789:0.0:0.9211	.	.	.	.	L	374	.	.	X	-	2	0	CCDC34	27316945	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.868000	0.56055	2.235000	0.73313	0.473000	0.43528	TAG		0.348	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		A	27360369	T	A	27360369	4	1	342	1	0	0	0	0	0	0	0	0	2807	1535	53	5	4	5	CCDC34	11	27360369	Nonstop_Mutation	SNP	T	TCGA-29-1766-01A-01W-0633-09	19850983	27360369	107646147	35	18526											
TECTA	7007	genome.wustl.edu	37	11	120984336	120984336	+	Silent	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr11:120984336C>A	ENST00000392793.1	+	6	970	c.699C>A	c.(697-699)atC>atA	p.I233I	TECTA_ENST00000264037.2_Silent_p.I233I			O75443	TECTA_HUMAN	tectorin alpha	233	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCGTGAATATCCAGGAGACCA	0.493																																																0			11											63	64	63					11																	120984336		2203	4299	6502	120489546	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.699C>A	11.37:g.120984336C>A			120489546		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.493	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	120984336	C	A	120984336	2	1	342	1	0	0	0	0	0	0	0	1	15747	845	30	3		3	TECTA	11	120984336	Silent	SNP	C	TCGA-29-1766-01A-01W-0633-09	93623967	120984336	14022180	36	18527											
KRT4	3851	genome.wustl.edu	37	12	53202599	53202599	+	Silent	SNP	C	C	T	rs189596654	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr12:53202599C>T	ENST00000551956.1	-	5	1362	c.870G>A	c.(868-870)acG>acA	p.T290T	KRT4_ENST00000293774.4_Silent_p.T364T|KRT4_ENST00000458244.2_Silent_p.T270T			P19013	K2C4_HUMAN	keratin 4	304	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGACCACGGACGTGTCGCTGA	0.577													C|||	5	0.000998403	8e-04	0	5008	,	,		20100	0		0.003	False		,,,				2504	0.001				Pancreas(190;284 2995 41444 45903)											0			12						C		3,4403	6.2+/-15.9	0,3,2200	95	87	90		870	-11.5	0	12		90	34,8566	23.4+/-69.3	0,34,4266	no	coding-synonymous	KRT4	NM_002272.3		0,37,6466	TT,TC,CC		0.3953,0.0681,0.2845		290/521	53202599	37,12969	2203	4300	6503	51488866	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.870G>A	12.37:g.53202599C>T			51488866	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																				0.577	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		T	53202599	C	T	53202599	2	4	342	1	0	0	0	0	0	0	0	1	8477	523	19	1		1	KRT4	12	53202599	Silent	SNP	C	TCGA-29-1766-01A-01W-0633-09		53202599	80649296	37	18528											
MED13L	23389	genome.wustl.edu	37	12	116406747	116406747	+	Silent	SNP	G	G	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr12:116406747G>T	ENST00000281928.3	-	28	6429	c.6223C>A	c.(6223-6225)Cgg>Agg	p.R2075R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2075						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCCTTACCCGACTATGCTGG	0.473																																																0			12											85	93	90					12																	116406747		2203	4300	6503	114891130	SO:0001819	synonymous_variant	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6223C>A	12.37:g.116406747G>T			114891130	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	CCDS9177.1																																																																																				0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			T	116406747	G	T	116406747	2	4	342	1	0	0	0	0	0	0	0	1	9431	1057	37	3		3	MED13L	12	116406747	Silent	SNP	G	TCGA-29-1766-01A-01W-0633-09	63204148	116406747	17445148	38	18529											
SPTB	6710	genome.wustl.edu	37	14	65260264	65260264	+	Missense_Mutation	SNP	C	C	T	rs201889680		TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr14:65260264C>T	ENST00000389721.5	-	13	2149	c.2117G>A	c.(2116-2118)cGc>cAc	p.R706H	SPTB_ENST00000389720.3_Missense_Mutation_p.R706H|SPTB_ENST00000389722.3_Missense_Mutation_p.R706H|SPTB_ENST00000556626.1_Missense_Mutation_p.R706H|SPTB_ENST00000542895.1_Missense_Mutation_p.R706H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	706					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AAACTGCTTGCGCGCAACCAT	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		18721	0		0	False		,,,				2504	0															0			14											63	55	58					14																	65260264		2203	4300	6503	64330017	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2117G>A	14.37:g.65260264C>T	ENSP00000374371:p.Arg706His		64330017	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030773	0.35797	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.69	1.75	0.24633	.	0.550007	0.19540	N	0.111829	T	0.42539	0.1207	L	0.43923	1.385	0.09310	N	1	P;P	0.38992	0.653;0.643	P;P	0.44477	0.451;0.451	T	0.31943	-0.9925	10	0.72032	D	0.01	.	7.2051	0.25903	0.0:0.5337:0.0:0.4663	.	706;710	P11277;Q59FP5	SPTB1_HUMAN;.	H	710;706;706;706;706;706	ENSP00000374372:R706H;ENSP00000451752:R706H;ENSP00000374371:R706H;ENSP00000443882:R706H;ENSP00000374370:R706H	ENSP00000374370:R706H	R	-	2	0	SPTB	64330017	0.000000	0.05858	0.626000	0.29213	0.621000	0.37620	-1.118000	0.03280	0.494000	0.27859	0.561000	0.74099	CGC		0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65260264	C	T	65260264	3	4	342	1	0	0	0	0	1	0	0	0	15120	768	27	1	5030	1	SPTB	14	65260264	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09		65260264	42089276	39	18530											
AHNAK2	113146	genome.wustl.edu	37	14	105410708	105410708	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr14:105410708C>A	ENST00000333244.5	-	7	11199	c.11080G>T	c.(11080-11082)Gac>Tac	p.D3694Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3694						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTCAGGTCGGCAGAAGGG	0.637																																																0			14											117	124	122					14																	105410708		1912	4108	6020	104481753	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11080G>T	14.37:g.105410708C>A	ENSP00000353114:p.Asp3694Tyr		104481753	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.50	1.957128	0.34565	.	.	ENSG00000185567	ENST00000333244	T	0.01406	4.93	3.62	0.683	0.17998	.	.	.	.	.	T	0.07413	0.0187	M	0.89601	3.045	0.09310	N	1	D	0.71674	0.998	D	0.64144	0.922	T	0.13072	-1.0523	9	0.87932	D	0	.	5.0533	0.14520	0.0:0.6191:0.1728:0.2081	.	3694	Q8IVF2	AHNK2_HUMAN	Y	3694	ENSP00000353114:D3694Y	ENSP00000353114:D3694Y	D	-	1	0	AHNAK2	104481753	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	0.751000	0.26348	-0.045000	0.13468	-1.185000	0.01705	GAC		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105410708	C	A	105410708	3	1	342	1	0	0	0	0	1	0	0	0	415	884	31	3	6311	3	AHNAK2	14	105410708	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	40150444	105410708	1938832	40	18531											
CDH11	1009	genome.wustl.edu	37	16	65005848	65005848	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr16:65005848G>A	ENST00000268603.4	-	10	2125	c.1510C>T	c.(1510-1512)Cca>Tca	p.P504S	CDH11_ENST00000566827.1_Missense_Mutation_p.P378S|CDH11_ENST00000394156.3_Missense_Mutation_p.P504S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGGAAAGTGGCTTGGTCTGA	0.448			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0			16											88	72	77					16																	65005848		2203	4300	6503	63563349	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1510C>T	16.37:g.65005848G>A	ENSP00000268603:p.Pro504Ser		63563349	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122242	0.37436	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.58506	2.24;0.33	5.91	3.92	0.45320	Cadherin (1);Cadherin-like (1);	0.102112	0.44097	D	0.000498	T	0.51975	0.1706	N	0.22421	0.69	0.31089	N	0.711084	B;P	0.46784	0.013;0.884	B;P	0.48952	0.037;0.596	T	0.56920	-0.7899	10	0.36615	T	0.2	.	14.916	0.70798	0.0:0.271:0.729:0.0	.	504;504	P55287-2;P55287	.;CAD11_HUMAN	S	504;504;487	ENSP00000268603:P504S;ENSP00000377711:P504S	ENSP00000268603:P504S	P	-	1	0	CDH11	63563349	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	3.340000	0.52143	0.813000	0.34350	-0.176000	0.13171	CCA		0.448	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		A	65005848	G	A	65005848	3	1	342	1	0	0	0	0	1	0	0	0	3097	1203	42	2	896	2	CDH11	16	65005848	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09		65005848	25348905	41	18532											
TP53	7157	genome.wustl.edu	37	17	7577110	7577110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:7577110delG	ENST00000269305.4	-	8	1017	c.828delC	c.(826-828)gccfs	p.A276fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.A276fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.A276fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.A276fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.A276fs	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	276	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A276A(2)|p.?(2)|p.A276fs*69(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCCCAGGACAGGCACAAACAC	0.547		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"	28	Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(5)|Insertion - Frameshift(2)|Unknown(2)|Complex - frameshift(2)|Substitution - coding silent(2)	upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|bone(4)|central_nervous_system(3)|stomach(2)|oesophagus(2)|skin(2)|urinary_tract(1)|prostate(1)|pancreas(1)	17											72	62	65					17																	7577110		2203	4300	6503	7517835	SO:0001589	frameshift_variant	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.828delC	17.37:g.7577110delG	ENSP00000269305:p.Ala276fs		7517835	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577110	G	-	7577110	7	5	342	1	0	1	0	1	0	0	0	0	16381	987	35	0	458	0	TP53	17	7577110	Frame_Shift_Del	DEL	G	TCGA-29-1766-01A-01W-0633-09		7577110	73618100	42	18533											
MYH3	4621	genome.wustl.edu	37	17	10541560	10541560	+	Silent	SNP	T	T	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:10541560T>G	ENST00000583535.1	-	27	3616	c.3529A>C	c.(3529-3531)Agg>Cgg	p.R1177R	MYH3_ENST00000226209.7_Silent_p.R1177R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1177					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCAGGTCCCTGCGCAGCTTC	0.637																																																0			17											76	65	69					17																	10541560		2203	4300	6503	10482285	SO:0001819	synonymous_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3529A>C	17.37:g.10541560T>G			10482285	Q15492	Silent	SNP	ENST00000583535.1	37	CCDS11157.1																																																																																				0.637	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		G	10541560	T	G	10541560	2	3	342	1	0	0	0	0	0	0	0	1	10036	1579	55	5		5	MYH3	17	10541560	Silent	SNP	T	TCGA-29-1766-01A-01W-0633-09	2964450	10541560	70653650	43	18534											
EVI2A	2123	genome.wustl.edu	37	17	29645370	29645370	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:29645370C>A	ENST00000462804.2	-	2	1061	c.662G>T	c.(661-663)aGa>aTa	p.R221I	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.R221I|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.K160N|EVI2A_ENST00000247270.3_Missense_Mutation_p.R244I	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	221					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTCATCTTTTCTTTCCCTTGT	0.403																																																11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17											91	84	86					17																	29645370		2203	4300	6503	26669496	SO:0001583	missense	2123			M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.662G>T	17.37:g.29645370C>A	ENSP00000420557:p.Arg221Ile		26669496	B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507579	0.44558	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.71	3.73	0.42828	.	0.280007	0.35903	N	0.002908	T	0.66036	0.2749	L	0.60455	1.87	0.40756	D	0.982961	D;D	0.58970	0.984;0.98	P;P	0.60541	0.876;0.804	T	0.67321	-0.5700	9	0.72032	D	0.01	.	8.6256	0.33888	0.0:0.7334:0.1257:0.1409	.	221;244	P22794;P22794-2	EVI2A_HUMAN;.	I	221;217;221;244	.	ENSP00000247270:R244I	R	-	2	0	EVI2A	26669496	0.990000	0.36364	0.982000	0.44146	0.798000	0.45092	0.775000	0.26689	0.768000	0.33290	0.655000	0.94253	AGA		0.403	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		A	29645370	C	A	29645370	3	1	342	1	0	0	0	0	1	0	0	0	5287	913	32	3	52	3	EVI2A	17	29645370	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	19103810	29645370	51549840	44	18535											
CCL4	6351	genome.wustl.edu	37	17	34431342	34431342	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:34431342C>T	ENST00000250151.4	+	1	360	c.44C>T	c.(43-45)gCt>gTt	p.A15V	CCL4_ENST00000394495.1_Missense_Mutation_p.A15V	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	15				A -> S (in Ref. 6; AAB00790). {ECO:0000305}.	cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCTAGTAGCTGCCTTCTGC	0.498																																					Colon(139;824 1752 21188 21615 24765)											0			17											531	480	498					17																	34431342		2203	4300	6503	31455455	SO:0001583	missense	6351			M23502	CCDS11308.1	17q21-q23	2014-05-06	2002-08-22	2002-08-23	ENSG00000129277	ENSG00000275302		"Chemokine ligands", "Endogenous ligands"	10630	protein-coding gene	gene with protein product		182284	"small inducible cytokine A4 (homologous to mouse Mip-1b)"	LAG1, SCYA4		1972563	Standard	NM_002984		Approved	MIP-1-beta, Act-2, AT744.1	uc002hkw.1	P13236	OTTHUMG00000188414	ENST00000250151.4:c.44C>T	17.37:g.34431342C>T	ENSP00000250151:p.Ala15Val		31455455	P22617|Q13704|Q3SXL8|Q6FGI8	Missense_Mutation	SNP	ENST00000250151.4	37	CCDS11308.1	.	.	.	.	.	.	.	.	.	.	.	9.736	1.163504	0.21538	.	.	ENSG00000129277	ENST00000250151;ENST00000394495	T;T	0.71934	4.13;-0.61	5.02	4.03	0.46877	Chemokine interleukin-8-like domain (1);	0.264227	0.25478	U	0.030385	T	0.75503	0.3858	.	.	.	0.22171	N	0.999313	D	0.63880	0.993	D	0.72625	0.978	T	0.62826	-0.6772	9	0.21014	T	0.42	.	9.5239	0.39152	0.0:0.9023:0.0:0.0977	.	15	P13236	CCL4_HUMAN	V	15	ENSP00000250151:A15V;ENSP00000378004:A15V	ENSP00000250151:A15V	A	+	2	0	CCL4	31455455	0.994000	0.37717	0.959000	0.39883	0.059000	0.15707	1.090000	0.30902	2.621000	0.88768	0.552000	0.68991	GCT		0.498	CCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256592.2	NM_002984		T	34431342	C	T	34431342	3	4	342	1	0	0	0	0	1	0	0	0	2902	797	28	2	46	2	CCL4	17	34431342	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	4785972	34431342	46763868	45	18536											
KRT17	3872	genome.wustl.edu	37	17	39777278	39777278	+	Silent	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:39777278G>A	ENST00000311208.8	-	5	967	c.900C>T	c.(898-900)atC>atT	p.I300I	JUP_ENST00000540235.1_Silent_p.I459I	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	300	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGAGCTCCGAGATCTCACTCT	0.617																																					Pancreas(92;1242 2086 39193 50508)											0			17											69	59	63					17																	39777278		2203	4300	6503	37030804	SO:0001819	synonymous_variant	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.900C>T	17.37:g.39777278G>A			37030804	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																				0.617	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		A	39777278	G	A	39777278	2	1	342	1	0	0	0	0	0	0	0	1	8454	932	33	2		2	KRT17	17	39777278	Silent	SNP	G	TCGA-29-1766-01A-01W-0633-09	5345936	39777278	41417932	46	18537											
PLCD3	113026	genome.wustl.edu	37	17	43194020	43194020	+	Silent	SNP	G	G	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:43194020G>C	ENST00000322765.5	-	8	1505	c.1392C>G	c.(1390-1392)ccC>ccG	p.P464P	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	464	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GCAGCTCCTCGGGATTTGGGG	0.687																																																0			17											38	44	42					17																	43194020		2075	4198	6273	40549546	SO:0001819	synonymous_variant	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1392C>G	17.37:g.43194020G>C			40549546	Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37																																																																																					0.687	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		C	43194020	G	C	43194020	2	2	342	1	0	0	0	0	0	0	0	1	12032	1103	39	3		3	PLCD3	17	43194020	Silent	SNP	G	TCGA-29-1766-01A-01W-0633-09	3416742	43194020	38001190	47	18538											
TANC2	26115	genome.wustl.edu	37	17	61482569	61482569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr17:61482569C>T	ENST00000424789.2	+	18	3200	c.3196C>T	c.(3196-3198)Cga>Tga	p.R1066*	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.R1066*|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1066					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCCAAACCGCCGAGGAGCAGT	0.617																																																0			17											19	21	20					17																	61482569		2011	4162	6173	58836301	SO:0001587	stop_gained	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3196C>T	17.37:g.61482569C>T	ENSP00000387593:p.Arg1066*		58836301	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Nonsense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	41	8.973780	0.99021	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	.	.	.	5.33	4.33	0.51752	.	0.067807	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8451	0.70254	0.1493:0.8507:0.0:0.0	.	.	.	.	X	1066	.	ENSP00000374171:R1066X	R	+	1	2	TANC2	58836301	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	2.527000	0.45615	1.190000	0.43042	0.655000	0.94253	CGA		0.617	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			T	61482569	C	T	61482569	4	4	342	1	0	0	0	0	0	1	0	0	15545	644	23	1	3266	1	TANC2	17	61482569	Nonsense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	18288549	61482569	19712641	48	18539											
DTNA	1837	genome.wustl.edu	37	18	32392010	32392010	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr18:32392010C>G	ENST00000399113.3	+	5	536	c.536C>G	c.(535-537)aCg>aGg	p.T179R	DTNA_ENST00000598774.1_Missense_Mutation_p.T179R|DTNA_ENST00000399121.5_Missense_Mutation_p.T179R|DTNA_ENST00000598334.1_Missense_Mutation_p.T179R|DTNA_ENST00000595022.1_Missense_Mutation_p.T179R|DTNA_ENST00000597599.1_Missense_Mutation_p.T179R|DTNA_ENST00000269191.6_Missense_Mutation_p.T179R|DTNA_ENST00000348997.5_Missense_Mutation_p.T179R|DTNA_ENST00000444659.1_Missense_Mutation_p.T179R|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000283365.9_Missense_Mutation_p.T179R|DTNA_ENST00000269190.7_Missense_Mutation_p.T179R|DTNA_ENST00000598142.1_Missense_Mutation_p.T179R|DTNA_ENST00000596745.1_Missense_Mutation_p.T179R|DTNA_ENST00000554864.3_Missense_Mutation_p.T179R|DTNA_ENST00000315456.6_Missense_Mutation_p.T179R			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	179	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAACTACCCACGGCAGTTTTT	0.413																																																0			18											116	110	112					18																	32392010		2203	4300	6503	30646008	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.536C>G	18.37:g.32392010C>G	ENSP00000382064:p.Thr179Arg		30646008	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950047	0.73787	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.8	5.8	0.92144	EF-hand domain, type 2 (1);EF-hand-like domain (1);	0.107611	0.64402	D	0.000005	T	0.74435	0.3716	N	0.17838	0.53	0.80722	D	1	D;P;P;D;D;P;D;D;D;D;D;P	0.62365	0.966;0.888;0.92;0.961;0.989;0.92;0.961;0.991;0.965;0.989;0.958;0.917	P;P;P;P;P;P;P;D;P;P;P;P	0.64776	0.574;0.65;0.694;0.895;0.883;0.694;0.886;0.929;0.852;0.831;0.54;0.77	T	0.73244	-0.4044	10	0.35671	T	0.21	-15.007	20.0522	0.97631	0.0:1.0:0.0:0.0	.	179;179;179;179;179;179;179;190;179;179;179;179	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	R	179	ENSP00000283365:T179R;ENSP00000322519:T179R;ENSP00000269190:T179R;ENSP00000336682:T179R;ENSP00000382072:T179R;ENSP00000405819:T179R;ENSP00000269191:T179R;ENSP00000382064:T179R	ENSP00000269190:T179R	T	+	2	0	DTNA	30646008	0.991000	0.36638	0.997000	0.53966	0.720000	0.41350	2.886000	0.48578	2.737000	0.93849	0.563000	0.77884	ACG		0.413	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		G	32392010	C	G	32392010	3	3	342	1	0	0	0	0	1	0	0	0	4788	536	19	3	554	3	DTNA	18	32392010	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09		32392010	45685238	49	18540											
WIZ	58525	genome.wustl.edu	37	19	15559002	15559002	+	Silent	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:15559002C>A	ENST00000389282.4	-	2	330	c.117G>T	c.(115-117)ggG>ggT	p.G39G	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000263381.7_Silent_p.G39G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	39					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGCCACCTTCCCCCTCAGCAG	0.642																																																0			19											62	69	67					19																	15559002		1983	4130	6113	15420002	SO:0001819	synonymous_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.117G>T	19.37:g.15559002C>A			15420002	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	37																																																																																					0.642	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		A	15559002	C	A	15559002	2	1	342	1	0	0	0	0	0	0	0	1	17375	610	22	3		3	WIZ	19	15559002	Silent	SNP	C	TCGA-29-1766-01A-01W-0633-09		15559002	43569981	50	18541											
ZNF626	199777	genome.wustl.edu	37	19	20808430	20808430	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:20808430G>T	ENST00000601440.1	-	4	399	c.253C>A	c.(253-255)Ctt>Att	p.L85I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCTGGCCAAAGGTCTTGGGCA	0.308																																																0			19											48	54	52					19																	20808430		2168	4281	6449	20600270	SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.253C>A	19.37:g.20808430G>T	ENSP00000469958:p.Leu85Ile		20600270	Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	9.062	0.994705	0.19043	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.494	-0.987	0.10249	.	.	.	.	.	T	0.44244	0.1284	M	0.62088	1.915	0.19575	N	0.999967	P	0.46706	0.883	P	0.50860	0.652	T	0.32824	-0.9892	8	0.41790	T	0.15	.	4.9799	0.14160	0.0:0.0:0.658:0.342	.	85	Q68DY1	ZN626_HUMAN	I	85;9;85	.	ENSP00000445201:L85I	L	-	1	0	ZNF626	20600270	0.003000	0.15002	0.042000	0.18584	0.440000	0.31957	-0.875000	0.04205	-0.509000	0.06532	0.289000	0.19496	CTT		0.308	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		T	20808430	G	T	20808430	3	4	342	1	0	0	0	0	1	0	0	0	18050	1000	35	3	1337	3	ZNF626	19	20808430	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09	5249428	20808430	38320553	51	18542											
TSHZ3	57616	genome.wustl.edu	37	19	31770200	31770200	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:31770200A>C	ENST00000240587.4	-	2	826	c.499T>G	c.(499-501)Tgg>Ggg	p.W167G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	167					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTCTGGTGCCAGTCGAAGCTC	0.642																																																0			19											40	41	41					19																	31770200		2203	4299	6502	36462040	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.499T>G	19.37:g.31770200A>C	ENSP00000240587:p.Trp167Gly		36462040	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379342	0.61845	.	.	ENSG00000121297	ENST00000240587	T	0.22336	1.96	5.44	5.44	0.79542	.	0.000000	0.64402	U	0.000001	T	0.44498	0.1296	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.40590	-0.9555	10	0.87932	D	0	-7.8188	15.5045	0.75728	1.0:0.0:0.0:0.0	.	167	Q63HK5	TSH3_HUMAN	G	167	ENSP00000240587:W167G	ENSP00000240587:W167G	W	-	1	0	TSHZ3	36462040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.938000	0.92943	2.057000	0.61298	0.533000	0.62120	TGG		0.642	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		C	31770200	A	C	31770200	3	2	342	1	0	0	0	0	1	0	0	0	16625	188	7	5	2750	5	TSHZ3	19	31770200	Missense_Mutation	SNP	A	TCGA-29-1766-01A-01W-0633-09	10961770	31770200	27358783	52	18543											
FCGBP	8857	genome.wustl.edu	37	19	40368543	40368543	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:40368543C>T	ENST00000221347.6	-	28	12812	c.12805G>A	c.(12805-12807)Gac>Aac	p.D4269N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4269	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCAACCGGTCCTCAGGGCAC	0.667																																																0			19											26	29	28					19																	40368543		2193	4263	6456	45060383	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12805G>A	19.37:g.40368543C>T	ENSP00000221347:p.Asp4269Asn		45060383	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	9.585	1.124611	0.20959	.	.	ENSG00000090920	ENST00000221347	T	0.18810	2.19	4.6	2.44	0.29823	von Willebrand factor, type D domain (1);	0.225514	0.36338	U	0.002641	T	0.10594	0.0259	L	0.45285	1.41	0.09310	N	1	B	0.30824	0.296	B	0.22753	0.041	T	0.26395	-1.0104	10	0.02654	T	1	.	3.8661	0.09016	0.0:0.5286:0.1843:0.2871	.	4269	Q9Y6R7	FCGBP_HUMAN	N	4269	ENSP00000221347:D4269N	ENSP00000221347:D4269N	D	-	1	0	FCGBP	45060383	0.000000	0.05858	0.710000	0.30468	0.012000	0.07955	-0.493000	0.06459	1.067000	0.40740	0.305000	0.20034	GAC		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40368543	C	T	40368543	3	4	342	1	0	0	0	0	1	0	0	0	5778	855	30	2	3448	2	FCGBP	19	40368543	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	8598343	40368543	18760440	53	18544											
NLRP4	147945	genome.wustl.edu	37	19	56370525	56370525	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr19:56370525C>A	ENST00000301295.6	+	3	2188	c.1766C>A	c.(1765-1767)tCt>tAt	p.S589Y	NLRP4_ENST00000587891.1_Missense_Mutation_p.S514Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.S589Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	589					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGGTGGTTTCTGCCTACTGC	0.428																																																0			19											80	72	75					19																	56370525		2203	4300	6503	61062337	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1766C>A	19.37:g.56370525C>A	ENSP00000301295:p.Ser589Tyr		61062337	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582311	0.46006	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.89617	-2.54;-2.54	3.47	-1.16	0.09678	.	.	.	.	.	D	0.90580	0.7047	M	0.71036	2.16	0.09310	N	1	P;D;D	0.71674	0.937;0.998;0.997	P;D;P	0.65443	0.535;0.935;0.85	T	0.79685	-0.1700	9	0.37606	T	0.19	.	3.5854	0.07969	0.0:0.4718:0.1948:0.3334	.	589;514;589	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Y	589	ENSP00000301295:S589Y;ENSP00000344787:S589Y	ENSP00000301295:S589Y	S	+	2	0	NLRP4	61062337	0.001000	0.12720	0.000000	0.03702	0.211000	0.24417	1.070000	0.30653	-0.113000	0.11958	-0.282000	0.10007	TCT		0.428	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56370525	C	A	56370525	3	1	342	1	0	0	0	0	1	0	0	0	10479	913	32	3	1772	3	NLRP4	19	56370525	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09	16001982	56370525	2758458	54	18545											
PWP2	5822	genome.wustl.edu	37	21	45548140	45548140	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr21:45548140C>T	ENST00000291576.7	+	19	2499	c.2372C>T	c.(2371-2373)aCc>aTc	p.T791I	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	791					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAAGTGGTCACCTCCTCCCTT	0.517																																																0			21											138	138	138					21																	45548140		2203	4300	6503	44372568	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2372C>T	21.37:g.45548140C>T	ENSP00000291576:p.Thr791Ile		44372568	B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	C	8.825	0.938604	0.18206	.	.	ENSG00000241945	ENST00000291576	T	0.57107	0.42	4.2	3.3	0.37823	.	0.189887	0.56097	D	0.000022	T	0.34658	0.0905	N	0.12746	0.255	0.28054	N	0.933239	B	0.12630	0.006	B	0.08055	0.003	T	0.28933	-1.0028	10	0.46703	T	0.11	-8.2781	14.0369	0.64651	0.0:0.2932:0.7068:0.0	.	791	Q15269	PWP2_HUMAN	I	791	ENSP00000291576:T791I	ENSP00000291576:T791I	T	+	2	0	PWP2	44372568	1.000000	0.71417	0.621000	0.29145	0.564000	0.35744	2.775000	0.47702	1.049000	0.40321	-0.256000	0.11100	ACC		0.517	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		T	45548140	C	T	45548140	3	4	342	1	0	0	0	0	1	0	0	0	12847	507	18	2	2446	2	PWP2	21	45548140	Missense_Mutation	SNP	C	TCGA-29-1766-01A-01W-0633-09		45548140	2581755	55	18546											
KRTAP10-10	353333	genome.wustl.edu	37	21	46057582	46057582	+	Missense_Mutation	SNP	A	A	C	rs76743925	byFrequency	TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr21:46057582A>C	ENST00000380095.1	+	1	310	c.248A>C	c.(247-249)gAt>gCt	p.D83A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	83	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCCAGCCGGATTGCTGCACC	0.647													a|||	99	0.0197684	0.0726	0.0029	5008	,	,		21064	0		0.001	False		,,,				2504	0															0			21						A	,ALA/ASP	210,4196	807.2+/-415.9	11,188,2004	117	112	114		,248	0.2	0	21	dbSNP_131	114	3,8597	819.0+/-406.8	0,3,4297	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,126	11,191,6301	CC,CA,AA		0.0349,4.7662,1.6377	,benign	,83/252	46057582	213,12793	2203	4300	6503	44882010	SO:0001583	missense	353333			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.248A>C	21.37:g.46057582A>C	ENSP00000369438:p.Asp83Ala		44882010		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	28	0.01282051282051282	26	0.052845528455284556	2	0.0055248618784530384	0	0.0	0	0.0	c	0.001	-3.144807	0.00029	0.047662	3.49E-4	ENSG00000221859	ENST00000380095	T	0.01272	5.07	3.33	0.252	0.15545	.	.	.	.	.	T	0.00073	0.0002	N	0.00024	-2.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42832	-0.9428	9	0.10902	T	0.67	.	3.766	0.08623	0.1701:0.5684:0.1578:0.1037	.	83	P60014	KR10A_HUMAN	A	83	ENSP00000369438:D83A	ENSP00000369438:D83A	D	+	2	0	KRTAP10-10	44882010	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-0.238000	0.08977	-0.243000	0.09653	-1.509000	0.00949	GAT		0.647	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057582	A	C	46057582	3	2	342	1	0	0	0	0	1	0	0	0	8506	333	12	5	250	5	KRTAP10-10	21	46057582	Missense_Mutation	SNP	A	TCGA-29-1766-01A-01W-0633-09	509442	46057582	2072313	56	18547											
GGT1	2678	genome.wustl.edu	37	22	25011040	25011040	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chr22:25011040G>A	ENST00000400382.1	+	7	1083	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	GGT1_ENST00000406383.2_Missense_Mutation_p.A110T|GGT1_ENST00000400380.1_Missense_Mutation_p.A110T|GGT1_ENST00000400383.1_Missense_Mutation_p.A110T|GGT1_ENST00000248923.4_Missense_Mutation_p.A110T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	110					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCGCGAGGTGGCCCCCAGGCT	0.632																																																0			22											23	24	24					22																	25011040		1886	4108	5994	23341040	SO:0001583	missense	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.328G>A	22.37:g.25011040G>A	ENSP00000383232:p.Ala110Thr		23341040	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	28.2	4.899490	0.91962	.	.	ENSG00000100031	ENST00000248923;ENST00000411974;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000452551;ENST00000400383;ENST00000400380;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	3.62	3.62	0.41486	.	0.000000	0.85682	U	0.000000	T	0.53238	0.1784	H	0.97983	4.12	0.54753	D	0.999985	D	0.89917	1.0	D	0.83275	0.996	T	0.74057	-0.3787	10	0.87932	D	0	-7.1875	15.1038	0.72303	0.0:0.0:1.0:0.0	.	110	P19440	GGT1_HUMAN	T	110	ENSP00000248923:A110T;ENSP00000389935:A110T;ENSP00000393537:A110T;ENSP00000395271:A110T;ENSP00000383232:A110T;ENSP00000415553:A110T;ENSP00000383233:A110T;ENSP00000383231:A110T;ENSP00000400621:A110T;ENSP00000398589:A110T;ENSP00000387796:A110T;ENSP00000385975:A110T;ENSP00000415068:A110T	ENSP00000248923:A110T	A	+	1	0	GGT1	23341040	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	8.379000	0.90146	1.940000	0.56252	0.455000	0.32223	GCC		0.632	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		A	25011040	G	A	25011040	3	1	342	1	0	0	0	0	1	0	0	0	6361	1203	42	2	338	2	GGT1	22	25011040	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09		25011040	26293526	57	18548											
CYBB	1536	genome.wustl.edu	37	X	37663164	37663164	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chrX:37663164A>G	ENST00000378588.4	+	9	999	c.932A>G	c.(931-933)cAg>cGg	p.Q311R	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Missense_Mutation_p.Q44R|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.Q279R	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	311	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	ATCGAGCTACAGATGAAGAAG	0.408																																																0			X											80	72	75					X																	37663164		2202	4300	6502	37548108	SO:0001583	missense	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.932A>G	X.37:g.37663164A>G	ENSP00000367851:p.Gln311Arg		37548108	A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539353	0.65085	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.93488	-3.23;-3.23;-3.23	5.74	5.74	0.90152	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.050219	0.85682	D	0.000000	D	0.91981	0.7460	L	0.49256	1.55	0.80722	D	1	B;B	0.29481	0.245;0.148	B;B	0.36335	0.222;0.133	D	0.89940	0.4072	10	0.37606	T	0.19	.	15.043	0.71805	1.0:0.0:0.0:0.0	.	279;311	F5GWD2;P04839	.;CY24B_HUMAN	R	311;279;44	ENSP00000367851:Q311R;ENSP00000441896:Q279R;ENSP00000441958:Q44R	ENSP00000367851:Q311R	Q	+	2	0	CYBB	37548108	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	1.935000	0.56089	0.441000	0.28932	CAG		0.408	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			G	37663164	A	G	37663164	3	3	342	1	0	0	0	0	1	0	0	0	4133	188	7	4	966	4	CYBB	23	37663164	Missense_Mutation	SNP	A	TCGA-29-1766-01A-01W-0633-09		37663164	117607396	58	18549											
GLRA4	441509	genome.wustl.edu	37	X	102979145	102979145	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chrX:102979145G>A	ENST00000372617.4	-	4	775	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	119						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGGGATCGAGGTCCAGAGAG	0.527																																																0			X											132	131	131					X																	102979145		2145	4274	6419	102865801	SO:0001583	missense	0			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.355C>T	X.37:g.102979145G>A	ENSP00000361700:p.Leu119Phe		102865801		Missense_Mutation	SNP	ENST00000372617.4	37	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461265	0.63513	.	.	ENSG00000188828	ENST00000372617	D	0.81579	-1.51	5.17	3.37	0.38596	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	T	0.81936	0.4928	L	0.57536	1.79	0.46542	D	0.999096	P;P	0.52170	0.951;0.489	P;P	0.53954	0.738;0.513	T	0.80264	-0.1455	10	0.45353	T	0.12	.	9.3496	0.38129	0.1875:0.0:0.8125:0.0	.	119;78	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	F	119	ENSP00000361700:L119F	ENSP00000361700:L119F	L	-	1	0	GLRA4	102865801	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	5.739000	0.68622	0.951000	0.37770	0.513000	0.50165	CTC		0.527	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		A	102979145	G	A	102979145	3	1	342	1	0	0	0	0	1	0	0	0	6457	1000	35	2	1017	2	GLRA4	23	102979145	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09	65315981	102979145	52291415	59	18550											
HTR2C	3358	genome.wustl.edu	37	X	114141223	114141223	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1766-01A-01W-0633-09	TCGA-29-1766-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	da224cfe-35a1-4cf6-aaae-9bd877783fa9	0dfa0588-b616-4c29-93c7-0088e3e92876	g.chrX:114141223G>A	ENST00000276198.1	+	6	1350	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	HTR2C_ENST00000371951.1_Missense_Mutation_p.V208M|HTR2C_ENST00000371950.3_Missense_Mutation_p.R176H	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	208					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACGACGTGCGTGCTCAACGA	0.458													G|||	1	0.000264901	0	0	3775	,	,		15309	0.001		0	False		,,,				2504	0															0			X											277	222	240					X																	114141223		2203	4300	6503	114047479	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.622G>A	X.37:g.114141223G>A	ENSP00000276198:p.Val208Met		114047479	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.815265|2.815265	0.50527|0.50527	.|.	.|.	ENSG00000147246|ENSG00000147246	ENST00000371950|ENST00000276198;ENST00000371951	T|T;T	0.55930|0.38240	0.49|1.15;1.15	4.87|4.87	3.98|3.98	0.46160|0.46160	.|GPCR, rhodopsin-like superfamily (1);	.|0.234109	.|0.35291	.|N	.|0.003301	T|T	0.34454|0.34454	0.0898|0.0898	L|L	0.47190|0.47190	1.495|1.495	0.21861|0.21861	N|N	0.999507|0.999507	B|P	0.10296|0.47350	0.003|0.894	B|P	0.04013|0.45610	0.001|0.487	T|T	0.16158|0.16158	-1.0412|-1.0412	9|10	0.87932|0.36615	D|T	0|0.2	.|.	10.6944|10.6944	0.45890|0.45890	0.1048:0.0:0.8952:0.0|0.1048:0.0:0.8952:0.0	.|.	176|208	B1AMW4|P28335	.|5HT2C_HUMAN	H|M	176|208	ENSP00000361018:R176H|ENSP00000276198:V208M;ENSP00000361019:V208M	ENSP00000361018:R176H|ENSP00000276198:V208M	R|V	+|+	2|1	0|0	HTR2C|HTR2C	114047479|114047479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.928000|2.928000	0.48908|0.48908	2.135000|2.135000	0.66039|0.66039	0.538000|0.538000	0.68166|0.68166	CGT|GTG		0.458	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		A	114141223	G	A	114141223	3	1	342	1	0	0	0	0	1	0	0	0	7443	1145	40	1	636	1	HTR2C	23	114141223	Missense_Mutation	SNP	G	TCGA-29-1766-01A-01W-0633-09	11162078	114141223	41129337	60	18551											
EPB41	2035	genome.wustl.edu	37	1	29314193	29314193	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr1:29314193C>G	ENST00000343067.4	+	2	371	c.244C>G	c.(244-246)Cta>Gta	p.L82V	EPB41_ENST00000373798.1_Missense_Mutation_p.L82V|EPB41_ENST00000373797.1_Missense_Mutation_p.L82V|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.L82V|EPB41_ENST00000356093.2_Missense_Mutation_p.L82V|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.L82V	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	82					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACTTTCACGACTATTCTCCTC	0.448																																																0			1											145	136	139					1																	29314193		2203	4300	6503	29186780	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.244C>G	1.37:g.29314193C>G	ENSP00000345259:p.Leu82Val		29186780	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397697	0.83120	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.87103	-2.2;-2.16;-2.0;-2.17;-2.2;-2.21	5.6	5.6	0.85130	.	0.164687	0.39407	N	0.001362	D	0.90556	0.7040	L	0.34521	1.04	0.46149	D	0.99889	D;D;D;D;D	0.76494	0.998;0.99;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.99;0.915;0.995;0.998;0.995	D	0.91416	0.5155	10	0.72032	D	0.01	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	82;82;82;82;82	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	V	99;82;82;82;82;82;82;82;82	ENSP00000345259:L82V;ENSP00000348397:L82V;ENSP00000381839:L82V;ENSP00000290100:L82V;ENSP00000362904:L82V;ENSP00000362903:L82V	ENSP00000345259:L82V	L	+	1	2	EPB41	29186780	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.805000	0.47939	2.633000	0.89246	0.650000	0.86243	CTA		0.448	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		G	29314193	C	G	29314193	3	3	343	1	0	0	0	0	1	0	0	0	5151	564	20	3	246	3	EPB41	1	29314193	Missense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09		29314193	219936428	1	18552											
SEC16B	89866	genome.wustl.edu	37	1	177911038	177911038	+	Silent	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr1:177911038G>T	ENST00000308284.6	-	16	2108	c.2019C>A	c.(2017-2019)atC>atA	p.I673I	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	673					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGCTCACCTTGATGAGTTCCA	0.478																																																0			1											106	102	103					1																	177911038		1913	4139	6052	176177661	SO:0001819	synonymous_variant	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2019C>A	1.37:g.177911038G>T			176177661	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	CCDS44281.1																																																																																				0.478	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		T	177911038	G	T	177911038	2	4	343	1	0	0	0	0	0	0	0	1	13990	1280	45	3		3	SEC16B	1	177911038	Silent	SNP	G	TCGA-29-1768-01A-01W-0633-09	148596845	177911038	71339583	2	18553											
RGS2	5997	genome.wustl.edu	37	1	192780142	192780142	+	Silent	SNP	G	G	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr1:192780142G>A	ENST00000235382.5	+	4	337	c.306G>A	c.(304-306)aaG>aaA	p.K102K		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	102	Necessary to inhibit protein synthesis.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						CTTTTTTAAAGTCGGAATTCT	0.403																																					Pancreas(71;51 2183 4981)											0			1											105	110	108					1																	192780142		2203	4300	6503	191046765	SO:0001819	synonymous_variant	5997			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"Regulators of G-protein signaling", "Endogenous ligands"	9998	protein-coding gene	gene with protein product		600861	"regulator of G-protein signalling 2, 24kD", "regulator of G-protein signalling 2, 24kDa", "regulator of G-protein signaling 2, 24kDa"	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.306G>A	1.37:g.192780142G>A			191046765	Q6I9U5	Silent	SNP	ENST00000235382.5	37	CCDS1377.1																																																																																				0.403	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		A	192780142	G	A	192780142	2	1	343	1	0	0	0	0	0	0	0	1	13305	1020	36	2		2	RGS2	1	192780142	Silent	SNP	G	TCGA-29-1768-01A-01W-0633-09	14869104	192780142	56470479	3	18554											
DYSF	8291	genome.wustl.edu	37	2	71909746	71909746	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr2:71909746T>G	ENST00000258104.3	+	54	6420	c.6143T>G	c.(6142-6144)aTc>aGc	p.I2048S	DYSF_ENST00000409762.1_Missense_Mutation_p.I2065S|DYSF_ENST00000410041.1_Missense_Mutation_p.I2066S|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.I2049S|DYSF_ENST00000409366.1_Missense_Mutation_p.I2070S|DYSF_ENST00000410020.3_Missense_Mutation_p.I2087S|DYSF_ENST00000409744.1_Missense_Mutation_p.I2056S|DYSF_ENST00000409582.3_Missense_Mutation_p.I2086S|DYSF_ENST00000409651.1_Missense_Mutation_p.I2080S|DYSF_ENST00000413539.2_Missense_Mutation_p.I2079S|DYSF_ENST00000429174.2_Missense_Mutation_p.I2069S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2048					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGGCcatcatcctcttcatc	0.582																																																0			2											182	125	144					2																	71909746		2203	4300	6503	71763254	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6143T>G	2.37:g.71909746T>G	ENSP00000258104:p.Ile2048Ser		71763254	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496946	0.85069	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.86097	-2.06;-2.07;-2.05;-2.05;-2.07;-2.06;-2.07;-2.05;-2.05;-2.05;-2.07	5.1	5.1	0.69264	.	0.221935	0.47852	D	0.000210	D	0.92004	0.7467	M	0.84156	2.68	0.50632	D	0.999889	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.996;0.996;0.996;0.987;0.977;0.995;0.995;0.998;0.97;0.996;0.991;0.997;0.977;0.987;0.96	D;P;P;P;P;D;D;D;D;P;D;D;P;P;P	0.71184	0.939;0.907;0.907;0.907;0.907;0.972;0.972;0.972;0.92;0.907;0.944;0.956;0.907;0.907;0.809	D	0.93076	0.6487	10	0.87932	D	0	-24.6383	13.1302	0.59377	0.0:0.0:0.0:1.0	.	812;2080;2087;2070;2035;2066;2056;2065;2055;2079;2086;2069;2034;2049;2048	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	S	2079;2065;2086;2069;2048;2080;2049;2056;2070;2087;2066	ENSP00000407046:I2079S;ENSP00000387137:I2065S;ENSP00000386547:I2086S;ENSP00000398305:I2069S;ENSP00000258104:I2048S;ENSP00000386683:I2080S;ENSP00000377678:I2049S;ENSP00000386285:I2056S;ENSP00000386512:I2070S;ENSP00000386881:I2087S;ENSP00000386617:I2066S	ENSP00000258104:I2048S	I	+	2	0	DYSF	71763254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.950000	0.87804	2.034000	0.60081	0.533000	0.62120	ATC		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		G	71909746	T	G	71909746	3	3	343	1	0	0	0	0	1	0	0	0	4859	1435	50	5	6616	5	DYSF	2	71909746	Missense_Mutation	SNP	T	TCGA-29-1768-01A-01W-0633-09		71909746	171289627	4	18555											
GLI2	2736	genome.wustl.edu	37	2	121709000	121709000	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr2:121709000A>G	ENST00000452319.1	+	4	496	c.436A>G	c.(436-438)Agg>Ggg	p.R146G	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R146G|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCTGCAGCCAGGGGCCTCAG	0.662																																																0			2											37	38	38					2																	121709000		2203	4300	6503	121425470	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.436A>G	2.37:g.121709000A>G	ENSP00000390436:p.Arg146Gly		121425470		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959902	0.74016	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.52057	0.68;0.68	5.18	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.999	D;D;D	0.91635	0.999;0.977;0.991	T	0.71797	-0.4484	10	0.56958	D	0.05	.	15.2469	0.73511	0.4464:0.5536:0.0:0.0	.	146;146;146	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	G	146	ENSP00000390436:R146G;ENSP00000354586:R146G	ENSP00000354586:R146G	R	+	1	2	GLI2	121425470	0.998000	0.40836	0.995000	0.50966	0.882000	0.50991	0.818000	0.27295	0.122000	0.18314	-0.501000	0.04562	AGG		0.662	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		G	121709000	A	G	121709000	3	3	343	1	0	0	0	0	1	0	0	0	6438	179	7	4	446	4	GLI2	2	121709000	Missense_Mutation	SNP	A	TCGA-29-1768-01A-01W-0633-09	49799254	121709000	121490373	5	18556											
DNAH7	56171	genome.wustl.edu	37	2	196771432	196771432	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr2:196771432G>T	ENST00000312428.6	-	27	4386	c.4286C>A	c.(4285-4287)aCa>aAa	p.T1429K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1429	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGGTTCATTGTTATAAAGAC	0.373																																																0			2											137	126	130					2																	196771432		1855	4109	5964	196479677	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4286C>A	2.37:g.196771432G>T	ENSP00000311273:p.Thr1429Lys		196479677	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768432	0.90020	.	.	ENSG00000118997	ENST00000312428	T	0.53206	0.63	4.95	4.95	0.65309	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	H	0.99870	4.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91802	0.5452	10	0.87932	D	0	.	17.9626	0.89090	0.0:0.0:1.0:0.0	.	1429	Q8WXX0	DYH7_HUMAN	K	1429	ENSP00000311273:T1429K	ENSP00000311273:T1429K	T	-	2	0	DNAH7	196479677	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.625000	0.98406	2.570000	0.86706	0.460000	0.39030	ACA		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196771432	G	T	196771432	3	4	343	1	0	0	0	0	1	0	0	0	4606	1377	48	3	7944	3	DNAH7	2	196771432	Missense_Mutation	SNP	G	TCGA-29-1768-01A-01W-0633-09	75062432	196771432	46427941	6	18557											
SCN5A	6331	genome.wustl.edu	37	3	38618270	38618270	+	Silent	SNP	G	G	A	rs374086567		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr3:38618270G>A	ENST00000333535.4	-	19	3542	c.3393C>T	c.(3391-3393)acC>acT	p.T1131T	SCN5A_ENST00000425664.1_Silent_p.T1131T|SCN5A_ENST00000413689.1_Silent_p.T1131T|SCN5A_ENST00000455624.2_Silent_p.T1130T|SCN5A_ENST00000450102.2_Silent_p.T1077T|SCN5A_ENST00000451551.2_Silent_p.T1077T|SCN5A_ENST00000423572.2_Silent_p.T1130T|SCN5A_ENST00000414099.2_Silent_p.T1131T|SCN5A_ENST00000443581.1_Silent_p.T1130T|SCN5A_ENST00000449557.2_Silent_p.T1077T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1131			T -> I (in ATFB10). {ECO:0000269|PubMed:18378609}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTCCTCTGGGGTCTATGGAC	0.617																																																0			3						G	,,,,,	1,4221		0,1,2110	34	37	36		3390,3393,3393,3390,3231,3393	-5.1	0	3		36	0,8496		0,0,4248	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,1,6358	AA,AG,GG		0.0,0.0237,0.0079	,,,,,	1130/2016,1131/2017,1131/1999,1130/1984,1077/1963,1131/2017	38618270	1,12717	2111	4248	6359	38593274	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3393C>T	3.37:g.38618270G>A			38593274	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38618270	G	A	38618270	2	1	343	1	0	0	0	0	0	0	0	1	13925	1219	43	2		2	SCN5A	3	38618270	Silent	SNP	G	TCGA-29-1768-01A-01W-0633-09		38618270	159404160	7	18558											
LEKR1	389170	genome.wustl.edu	37	3	156763342	156763342	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr3:156763342G>C	ENST00000470811.1	+	14	2305	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q	LEKR1_ENST00000356539.4_Missense_Mutation_p.E628Q			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	324										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTGAACTCTGAAAAAGGAAT	0.517																																																0			3											83	89	87					3																	156763342		2203	4300	6503	158246036	SO:0001583	missense	389170			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.970G>C	3.37:g.156763342G>C	ENSP00000418214:p.Glu324Gln		158246036		Missense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	G	13.93	2.383968	0.42308	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.49139	0.8;0.79	4.94	4.94	0.65067	.	0.591675	0.15579	N	0.255013	T	0.51312	0.1667	L	0.47716	1.5	0.09310	N	1	D	0.54964	0.969	P	0.50754	0.649	T	0.45293	-0.9271	10	0.18276	T	0.48	-4.3047	16.9551	0.86257	0.0:0.0:1.0:0.0	.	324	Q6ZMV7	LEKR1_HUMAN	Q	324;628	ENSP00000418214:E324Q;ENSP00000348936:E628Q	ENSP00000348936:E628Q	E	+	1	0	LEKR1	158246036	0.593000	0.26840	0.006000	0.13384	0.402000	0.30811	3.615000	0.54167	2.276000	0.75962	0.655000	0.94253	GAA		0.517	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		C	156763342	G	C	156763342	3	2	343	1	0	0	0	0	1	0	0	0	8717	1291	45	3	1928	3	LEKR1	3	156763342	Missense_Mutation	SNP	G	TCGA-29-1768-01A-01W-0633-09	118145072	156763342	41259088	8	18559											
WHSC2	7469	genome.wustl.edu	37	4	1985373	1985373	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:1985373A>T	ENST00000411638.2	-	10	1367	c.1352T>A	c.(1351-1353)gTc>gAc	p.V451D	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Missense_Mutation_p.V316D|NELFA_ENST00000382882.3_Missense_Mutation_p.V462D	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	451					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|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)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGGCCGCGTGACTTTGTTGGC	0.672																																																0			4											61	65	63					4																	1985373		2203	4300	6503	1955171	SO:0001583	missense	7469			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1352T>A	4.37:g.1985373A>T	ENSP00000399165:p.Val451Asp		1955171	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.	.	.	.	.	.	.	.	.	.	A	18.46	3.627979	0.66901	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.75155	0.3811	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79052	-0.1961	10	0.87932	D	0	-38.706	14.3981	0.67025	1.0:0.0:0.0:0.0	.	451	Q9H3P2	NELFA_HUMAN	D	462;455;316;451	ENSP00000372335:V462D;ENSP00000387647:V455D;ENSP00000445757:V316D;ENSP00000399165:V451D	ENSP00000372335:V462D	V	-	2	0	WHSC2	1955171	1.000000	0.71417	0.973000	0.42090	0.283000	0.27025	7.289000	0.78701	1.823000	0.53134	0.379000	0.24179	GTC		0.672	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		T	1985373	A	T	1985373	3	4	343	1	0	0	0	0	1	0	0	0	17364	275	10	5	242	5	WHSC2	4	1985373	Missense_Mutation	SNP	A	TCGA-29-1768-01A-01W-0633-09		1985373	189168903	9	18560											
HAUS3	79441	genome.wustl.edu	37	4	2242554	2242554	+	Silent	SNP	C	C	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:2242554C>A	ENST00000243706.4	-	2	349	c.120G>T	c.(118-120)ctG>ctT	p.L40L	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Silent_p.L40L|HAUS3_ENST00000506763.1_Silent_p.L40L|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	40					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AAAACCACTTCAGAAACGATT	0.373																																																0			4											117	107	111					4																	2242554		2203	4300	6503	2212352	SO:0001819	synonymous_variant	79441			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.120G>T	4.37:g.2242554C>A			2212352	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Silent	SNP	ENST00000243706.4	37	CCDS33941.1																																																																																				0.373	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		A	2242554	C	A	2242554	2	1	343	1	0	0	0	0	0	0	0	1	6967	813	29	3		3	HAUS3	4	2242554	Silent	SNP	C	TCGA-29-1768-01A-01W-0633-09	257181	2242554	188911722	10	18561											
NFXL1	152518	genome.wustl.edu	37	4	47905265	47905265	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:47905265G>T	ENST00000507489.1	-	5	768	c.592C>A	c.(592-594)Ctt>Att	p.L198I	NFXL1_ENST00000381538.3_Missense_Mutation_p.L198I|NFXL1_ENST00000329043.3_Missense_Mutation_p.L198I	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	198						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GAAGATACAAGAAACTGGCTG	0.363																																																0			4											84	84	84					4																	47905265		2203	4300	6503	47600022	SO:0001583	missense	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.592C>A	4.37:g.47905265G>T	ENSP00000422037:p.Leu198Ile		47600022	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552830	0.65425	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.28069	1.63;1.63;1.63	5.35	4.51	0.55191	Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.65498	2.005	0.48975	D	0.999735	P	0.42785	0.79	B	0.42555	0.391	T	0.08066	-1.0740	10	0.16420	T	0.52	-13.6592	10.7599	0.46258	0.1514:0.0:0.8486:0.0	.	198	Q6ZNB6	NFXL1_HUMAN	I	198	ENSP00000370949:L198I;ENSP00000422037:L198I;ENSP00000333113:L198I	ENSP00000333113:L198I	L	-	1	0	NFXL1	47600022	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.443000	0.59994	1.255000	0.44051	0.555000	0.69702	CTT		0.363	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		T	47905265	G	T	47905265	3	4	343	1	0	0	0	0	1	0	0	0	10388	942	33	3	2219	3	NFXL1	4	47905265	Missense_Mutation	SNP	G	TCGA-29-1768-01A-01W-0633-09	45662711	47905265	143249011	11	18562											
TET2	54790	genome.wustl.edu	37	4	106157294	106157294	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:106157294C>A	ENST00000540549.1	+	3	3055	c.2195C>A	c.(2194-2196)cCa>cAa	p.P732Q	TET2_ENST00000305737.2_Missense_Mutation_p.P732Q|TET2_ENST00000380013.4_Missense_Mutation_p.P732Q|TET2_ENST00000545826.1_Missense_Mutation_p.P732Q|TET2_ENST00000513237.1_Missense_Mutation_p.P753Q|TET2_ENST00000413648.2_Missense_Mutation_p.P732Q|TET2_ENST00000394764.1_Missense_Mutation_p.P732Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	732	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAACACAACCATCCCAGAGT	0.418			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4											78	82	80					4																	106157294		2203	4300	6503	106376743	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2195C>A	4.37:g.106157294C>A	ENSP00000442788:p.Pro732Gln		106376743	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	8.639	0.895487	0.17613	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.03580	3.89;4.52;3.88;4.52;4.52;3.89;3.89	5.81	1.44	0.22558	.	7.745160	0.00465	N	0.000101	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	1	P;P;P	0.44946	0.641;0.641;0.846	B;B;B	0.41813	0.202;0.202;0.367	T	0.43653	-0.9378	10	0.11485	T	0.65	.	7.7467	0.28873	0.0:0.4657:0.0:0.5343	.	753;732;732	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	Q	732;732;732;753;732;732;732	ENSP00000306705:P732Q;ENSP00000442788:P732Q;ENSP00000442867:P732Q;ENSP00000425443:P753Q;ENSP00000369351:P732Q;ENSP00000378245:P732Q;ENSP00000391448:P732Q	ENSP00000265149:P732Q	P	+	2	0	TET2	106376743	0.000000	0.05858	0.026000	0.17262	0.243000	0.25628	0.169000	0.16641	0.333000	0.23563	-0.345000	0.07892	CCA		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106157294	C	A	106157294	3	1	343	1	0	0	0	0	1	0	0	0	15770	594	21	3	2197	3	TET2	4	106157294	Missense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09	58252029	106157294	84996982	12	18563											
DCHS2	54798	genome.wustl.edu	37	4	155241925	155241925	+	Missense_Mutation	SNP	C	C	G	rs80045965		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:155241925C>G	ENST00000357232.4	-	14	3260	c.3261G>C	c.(3259-3261)ttG>ttC	p.L1087F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1087	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCTACTGTTCAAAAAACTGC	0.453																																																0			4											268	290	283					4																	155241925		2203	4300	6503	155461375	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3261G>C	4.37:g.155241925C>G	ENSP00000349768:p.Leu1087Phe		155461375	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362766	0.41902	.	.	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.59	2.51	0.30379	Cadherin (4);Cadherin-like (1);	0.266420	0.26304	N	0.025157	T	0.60314	0.2259	M	0.72479	2.2	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.56745	-0.7928	10	0.20519	T	0.43	.	9.1139	0.36746	0.0:0.6212:0.0:0.3788	.	1087	Q6V1P9	PCD23_HUMAN	F	1087	ENSP00000349768:L1087F	ENSP00000349768:L1087F	L	-	3	2	DCHS2	155461375	0.646000	0.27295	0.994000	0.49952	0.786000	0.44442	-0.164000	0.09983	0.728000	0.32382	0.563000	0.77884	TTG		0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155241925	C	G	155241925	3	3	343	1	0	0	0	0	1	0	0	0	4288	825	29	3	5537	3	DCHS2	4	155241925	Missense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09	49084631	155241925	35912351	13	18564											
PDLIM3	27295	genome.wustl.edu	37	4	186427757	186427757	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr4:186427757G>T	ENST00000284770.5	-	6	785	c.712C>A	c.(712-714)Cac>Aac	p.H238N	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.H190N	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	238					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGATTGTCGTGGAGCATCCGG	0.652																																																0			4											69	61	64					4																	186427757		2203	4300	6503	186664751	SO:0001583	missense	27295			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.712C>A	4.37:g.186427757G>T	ENSP00000284770:p.His238Asn		186664751	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051536	0.75960	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.34859	1.34;2.16	5.96	5.96	0.96718	.	0.093805	0.85682	D	0.000000	T	0.45196	0.1330	M	0.68593	2.085	0.80722	D	1	B;B	0.25486	0.127;0.034	B;B	0.28916	0.096;0.044	T	0.37776	-0.9691	10	0.72032	D	0.01	-25.976	20.4008	0.98991	0.0:0.0:1.0:0.0	.	190;238	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	N	238;190	ENSP00000284770:H238N;ENSP00000284771:H190N	ENSP00000284770:H238N	H	-	1	0	PDLIM3	186664751	1.000000	0.71417	0.976000	0.42696	0.621000	0.37620	8.008000	0.88588	2.826000	0.97356	0.655000	0.94253	CAC		0.652	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		T	186427757	G	T	186427757	3	4	343	1	0	0	0	0	1	0	0	0	11681	1348	47	3	394	3	PDLIM3	4	186427757	Missense_Mutation	SNP	G	TCGA-29-1768-01A-01W-0633-09	31185832	186427757	4726519	14	18565											
MGC42105	167359	genome.wustl.edu	37	5	43277226	43277226	+	Silent	SNP	A	A	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr5:43277226A>C	ENST00000512796.1	+	3	1859	c.360A>C	c.(358-360)cgA>cgC	p.R120R	NIM1_ENST00000326035.2_Silent_p.R120R			Q8IY84	NIM1_HUMAN		120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TACTATCCCGAGAAATCTCCA	0.468																																																0			5											98	99	99					5																	43277226		2203	4300	6503	43312983	SO:0001819	synonymous_variant	167359																														ENST00000512796.1:c.360A>C	5.37:g.43277226A>C			43312983	B3KVM1	Silent	SNP	ENST00000512796.1	37	CCDS3943.1																																																																																				0.468	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			C	43277226	A	C	43277226	2	2	343	1	0	0	0	0	0	0	0	1	9552	291	11	5		5	MGC42105	5	43277226	Silent	SNP	A	TCGA-29-1768-01A-01W-0633-09		43277226	137638034	15	18566											
KLHL31	401265	genome.wustl.edu	37	6	53518977	53518977	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr6:53518977C>T	ENST00000407079.1	-	1	1093	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	KLHL31_ENST00000370905.3_Missense_Mutation_p.G365E			Q9H511	KLH31_HUMAN	kelch-like family member 31	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ATAAAGAAATCCATCCATCAC	0.423																																																0			6											113	109	110					6																	53518977		2203	4300	6503	53626936	SO:0001583	missense	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1094G>A	6.37:g.53518977C>T	ENSP00000384644:p.Gly365Glu		53626936	A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000339	0.74818	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	D;D	0.81996	-1.56;-1.56	5.39	5.39	0.77823	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87677	0.2545	10	0.49607	T	0.09	.	19.1841	0.93635	0.0:1.0:0.0:0.0	.	365	Q9H511	KLH31_HUMAN	E	365	ENSP00000359942:G365E;ENSP00000384644:G365E	ENSP00000359942:G365E	G	-	2	0	KLHL31	53626936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.537000	0.85549	0.655000	0.94253	GGA		0.423	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		T	53518977	C	T	53518977	3	4	343	1	0	0	0	0	1	0	0	0	8385	855	30	2	818	2	KLHL31	6	53518977	Missense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09		53518977	117596090	16	18567											
TXLNB	167838	genome.wustl.edu	37	6	139609740	139609740	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr6:139609740A>T	ENST00000358430.3	-	2	529	c.297T>A	c.(295-297)gaT>gaA	p.D99E	RP11-445F6.2_ENST00000440518.1_RNA|RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	99						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CACAGTCCCCATCCTCGTTGT	0.532																																																0			6											115	111	113					6																	139609740		2203	4300	6503	139651433	SO:0001583	missense	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.297T>A	6.37:g.139609740A>T	ENSP00000351206:p.Asp99Glu		139651433	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	A	9.293	1.051040	0.19827	.	.	ENSG00000164440	ENST00000358430	T	0.16457	2.34	6.07	-12.1	0.00011	.	0.224693	0.44688	N	0.000437	T	0.02494	0.0076	L	0.43923	1.385	0.20074	N	0.999934	P	0.34743	0.466	B	0.33846	0.171	T	0.04281	-1.0963	9	.	.	.	-22.1616	7.3459	0.26664	0.3163:0.0701:0.4667:0.1469	.	99	Q8N3L3	TXLNB_HUMAN	E	99	ENSP00000351206:D99E	.	D	-	3	2	TXLNB	139651433	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-1.126000	0.03254	-3.272000	0.00199	-0.297000	0.09499	GAT		0.532	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		T	139609740	A	T	139609740	3	4	343	1	0	0	0	0	1	0	0	0	16788	214	8	5	1793	5	TXLNB	6	139609740	Missense_Mutation	SNP	A	TCGA-29-1768-01A-01W-0633-09	86090763	139609740	31505327	17	18568											
PDE1C	5137	genome.wustl.edu	37	7	31918638	31918638	+	Silent	SNP	G	G	A	rs187122903	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr7:31918638G>A	ENST00000396191.1	-	4	851	c.396C>T	c.(394-396)caC>caT	p.H132H	PDE1C_ENST00000396184.3_Silent_p.H132H|PDE1C_ENST00000321453.7_Silent_p.H132H|PDE1C_ENST00000396182.2_Silent_p.H132H|PDE1C_ENST00000396193.1_Silent_p.H192H	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	132					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.H132H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCTGCACTGCGTGAACGATGC	0.522													G|||	3	0.000599042	0	0	5008	,	,		18243	0.003		0	False		,,,				2504	0															2	Substitution - coding silent(2)	large_intestine(2)	7											139	126	131					7																	31918638		2203	4300	6503	31885163	SO:0001819	synonymous_variant	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.396C>T	7.37:g.31918638G>A			31885163	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	CCDS55099.1																																																																																				0.522	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			A	31918638	G	A	31918638	2	1	343	1	0	0	0	0	0	0	0	1	11635	1136	40	1		1	PDE1C	7	31918638	Silent	SNP	G	TCGA-29-1768-01A-01W-0633-09		31918638	127220025	18	18569											
ARPC1B	10095	genome.wustl.edu	37	7	98985783	98985783	+	Silent	SNP	G	G	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr7:98985783G>T	ENST00000451682.1	+	6	600	c.291G>T	c.(289-291)cgG>cgT	p.R97R	ARPC1B_ENST00000252725.5_Silent_p.R97R|ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	97					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGATCAACCGGGCTGCCCGCT	0.607																																																0			7											59	57	58					7																	98985783		2203	4300	6503	98823719	SO:0001819	synonymous_variant	10095			AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	704	protein-coding gene	gene with protein product	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	604223	"actin related protein 2/3 complex, subunit 1B (41 kD)"			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.291G>T	7.37:g.98985783G>T			98823719	Q9BU00	Silent	SNP	ENST00000451682.1	37	CCDS5661.1																																																																																				0.607	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		T	98985783	G	T	98985783	2	4	343	1	0	0	0	0	0	0	0	1	970	1219	43	3		3	ARPC1B	7	98985783	Silent	SNP	G	TCGA-29-1768-01A-01W-0633-09	67067145	98985783	60152880	19	18570											
XKR5	389610	genome.wustl.edu	37	8	6690246	6690246	+	RNA	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr8:6690246A>G	ENST00000518724.1	-	0	385				GS1-24F4.2_ENST00000500823.2_lincRNA			Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TACCGCTTCCAAACACCAAGC	0.542																																																0			8											86	96	92					8																	6690246		2099	4222	6321	6677656			389610			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6690246A>G			6677656	Q5GH74	Missense_Mutation	SNP	ENST00000518724.1	37																																																																																					0.542	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		G	6690246	A	G	6690246	1	3	343	0	1	0	0	0	0	0	0	0	17434	130	5	4		4	XKR5	8	6690246	RNA	SNP	A	TCGA-29-1768-01A-01W-0633-09		6690246	139673776	20	18571											
TSPYL5	85453	genome.wustl.edu	37	8	98289401	98289401	+	Silent	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr8:98289401A>G	ENST00000322128.3	-	1	775	c.672T>C	c.(670-672)ctT>ctC	p.L224L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	224					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGAGAGCCGAAGGTAGGCCC	0.607																																																0			8											69	70	70					8																	98289401		2203	4300	6503	98358577	SO:0001819	synonymous_variant	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.672T>C	8.37:g.98289401A>G			98358577	B3KRF0|Q9C0B3	Silent	SNP	ENST00000322128.3	37	CCDS34927.1																																																																																				0.607	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		G	98289401	A	G	98289401	2	3	343	1	0	0	0	0	0	0	0	1	16662	233	9	4		4	TSPYL5	8	98289401	Silent	SNP	A	TCGA-29-1768-01A-01W-0633-09	91599155	98289401	48074621	21	18572											
PLAA	9373	genome.wustl.edu	37	9	26906068	26906068	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr9:26906068A>G	ENST00000397292.3	-	14	2246	c.1829T>C	c.(1828-1830)gTc>gCc	p.V610A		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	610	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TGCAGGAAAGACAATATCTAT	0.338																																					Melanoma(175;2670 2735 14091 35526)											0			9											25	27	26					9																	26906068		2139	4264	6403	26896068	SO:0001583	missense	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1829T>C	9.37:g.26906068A>G	ENSP00000380460:p.Val610Ala		26896068	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756722	0.69648	.	.	ENSG00000137055	ENST00000397292	T	0.49432	0.78	6.07	6.07	0.98685	PUL (2);	0.052081	0.85682	D	0.000000	T	0.62208	0.2409	M	0.67397	2.05	0.80722	D	1	D	0.58970	0.984	P	0.62435	0.902	T	0.57871	-0.7736	10	0.10377	T	0.69	-10.9168	16.6406	0.85098	1.0:0.0:0.0:0.0	.	610	Q9Y263	PLAP_HUMAN	A	610	ENSP00000380460:V610A	ENSP00000380460:V610A	V	-	2	0	PLAA	26896068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.718000	0.91430	2.326000	0.78906	0.533000	0.62120	GTC		0.338	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		G	26906068	A	G	26906068	3	3	343	1	0	0	0	0	1	0	0	0	12011	275	10	4	562	4	PLAA	9	26906068	Missense_Mutation	SNP	A	TCGA-29-1768-01A-01W-0633-09		26906068	114307363	22	18573											
C9orf11	54586	genome.wustl.edu	37	9	27294324	27294324	+	Silent	SNP	A	A	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr9:27294324A>T	ENST00000380032.3	-	3	362	c.279T>A	c.(277-279)gcT>gcA	p.A93A	EQTN_ENST00000380031.1_Silent_p.A93A|EQTN_ENST00000484994.1_5'UTR|EQTN_ENST00000537675.1_Silent_p.A93A	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	93					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											CGTTTTTTAGAGCAAAATTCA	0.383																																																0			9											148	122	131					9																	27294324		2202	4300	6502	27284324	SO:0001819	synonymous_variant	54586			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.279T>A	9.37:g.27294324A>T			27284324	B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Silent	SNP	ENST00000380032.3	37	CCDS35001.1																																																																																				0.383	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		T	27294324	A	T	27294324	2	4	343	1	0	0	0	0	0	0	0	1	2448	291	11	5		5	C9orf11	9	27294324	Silent	SNP	A	TCGA-29-1768-01A-01W-0633-09	388256	27294324	113919107	23	18574											
MELK	9833	genome.wustl.edu	37	9	36665487	36665488	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	TA	TA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr9:36665487_36665488delTA	ENST00000298048.2	+	14	1501_1502	c.1317_1318delTA	c.(1315-1320)tttatgfs	p.M440fs	MELK_ENST00000538311.1_Frame_Shift_Del_p.M246fs|MELK_ENST00000543751.1_Frame_Shift_Del_p.M408fs|MELK_ENST00000541717.1_Frame_Shift_Del_p.M399fs|MELK_ENST00000536860.1_Frame_Shift_Del_p.M392fs|MELK_ENST00000536987.1_Frame_Shift_Del_p.M309fs|MELK_ENST00000545008.1_Frame_Shift_Del_p.M369fs|MELK_ENST00000536329.1_Frame_Shift_Del_p.M369fs	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	440	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAGAGTACTTTATGTTTCCTGA	0.356																																					Ovarian(82;980 1317 7225 14391 18624)											0			9																																								36655488	SO:0001589	frameshift_variant	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1317_1318delTA	9.37:g.36665487_36665488delTA	ENSP00000298048:p.Met440fs		36655487	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Frame_Shift_Del	DEL	ENST00000298048.2	37	CCDS6606.1																																																																																				0.356	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		-	36665488	TA	-	36665487	7	5	343	1	0	1	0	1	0	0	0	0	9470	1751	61	0	1367	0	MELK	9	36665487	Frame_Shift_Del	DEL	TA	TCGA-29-1768-01A-01W-0633-09	9371163	36665487	104547944	24	18575											
UEVLD	55293	genome.wustl.edu	37	11	18566212	18566212	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:18566212C>G	ENST00000541984.1	-	6	609	c.547G>C	c.(547-549)Ggc>Cgc	p.G183R	UEVLD_ENST00000543987.1_Missense_Mutation_p.G340R|UEVLD_ENST00000379387.4_Missense_Mutation_p.G318R|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Missense_Mutation_p.G302R|UEVLD_ENST00000320750.6_Missense_Mutation_p.G318R|UEVLD_ENST00000396197.3_Missense_Mutation_p.G340R	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACTTCTTTGCCTGAAGTCTGT	0.408																																																0			11											207	196	199					11																	18566212		2199	4293	6492	18522788	SO:0001583	missense	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.547G>C	11.37:g.18566212C>G	ENSP00000437538:p.Gly183Arg		18522788		Missense_Mutation	SNP	ENST00000541984.1	37	CCDS58125.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096978	0.76870	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110;ENST00000541984	D;D;T;D;T;T	0.82255	-1.59;-1.59;-0.04;-1.59;-0.04;-0.99	5.74	5.74	0.90152	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.067799	0.64402	D	0.000020	D	0.88800	0.6535	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.65815	0.971;0.995;0.964;0.986	P;P;P;P	0.58820	0.725;0.829;0.5;0.846	D	0.89060	0.3462	10	0.72032	D	0.01	-13.6067	19.9326	0.97124	0.0:1.0:0.0:0.0	.	318;318;340;340	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	R	340;302;340;318;318;117;183	ENSP00000442974:G340R;ENSP00000441092:G302R;ENSP00000379500:G340R;ENSP00000323353:G318R;ENSP00000368697:G318R;ENSP00000437538:G183R	ENSP00000323353:G318R	G	-	1	0	UEVLD	18522788	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	4.151000	0.58105	2.720000	0.93068	0.650000	0.86243	GGC		0.408	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314		G	18566212	C	G	18566212	3	3	343	1	0	0	0	0	1	0	0	0	16933	681	24	3	413	3	UEVLD	11	18566212	Missense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09		18566212	116440304	25	18576											
OR5D14	219436	genome.wustl.edu	37	11	55563157	55563157	+	Silent	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:55563157A>G	ENST00000335605.1	+	1	126	c.126A>G	c.(124-126)gtA>gtG	p.V42V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCACAGTGGTAGGAAACCTTG	0.393																																																0			11											191	174	180					11																	55563157		2200	4296	6496	55319733	SO:0001819	synonymous_variant	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.126A>G	11.37:g.55563157A>G			55319733	Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	CCDS31508.1																																																																																				0.393	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		G	55563157	A	G	55563157	2	3	343	1	0	0	0	0	0	0	0	1	11155	407	15	4		4	OR5D14	11	55563157	Silent	SNP	A	TCGA-29-1768-01A-01W-0633-09	36996945	55563157	79443359	26	18577											
OR8K3	219473	genome.wustl.edu	37	11	56086270	56086270	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:56086270T>A	ENST00000312711.1	+	1	488	c.488T>A	c.(487-489)aTt>aAt	p.I163N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACCATAAAGATTTTTACTTTA	0.383																																																0			11											100	104	103					11																	56086270		2201	4296	6497	55842846	SO:0001583	missense	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.488T>A	11.37:g.56086270T>A	ENSP00000323555:p.Ile163Asn		55842846	Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	T	5.751	0.322994	0.10900	.	.	ENSG00000181689	ENST00000312711	T	0.00179	8.61	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.205852	0.34067	N	0.004287	T	0.00356	0.0011	M	0.90650	3.135	0.09310	N	1	B	0.26081	0.141	B	0.33846	0.171	T	0.20605	-1.0270	10	0.87932	D	0	.	8.0276	0.30446	0.0:0.102:0.0:0.898	.	163	Q8NH51	OR8K3_HUMAN	N	163	ENSP00000323555:I163N	ENSP00000323555:I163N	I	+	2	0	OR8K3	55842846	0.000000	0.05858	0.066000	0.19879	0.023000	0.10783	-0.010000	0.12743	2.036000	0.60181	0.467000	0.42956	ATT		0.383	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		A	56086270	T	A	56086270	3	1	343	1	0	0	0	0	1	0	0	0	11244	1493	52	5	490	5	OR8K3	11	56086270	Missense_Mutation	SNP	T	TCGA-29-1768-01A-01W-0633-09	523113	56086270	78920246	27	18578											
SPTBN2	6712	genome.wustl.edu	37	11	66458883	66458883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:66458883delC	ENST00000533211.1	-	27	5768	c.5437delG	c.(5437-5439)gccfs	p.A1813fs	SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.A1813fs|SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.A1813fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1813					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGCGCCAGGGCTTGGCGTGCC	0.701																																																0			11											35	34	34					11																	66458883		2198	4293	6491	66215459	SO:0001589	frameshift_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5437delG	11.37:g.66458883delC	ENSP00000432568:p.Ala1813fs		66215459	O14872|O14873	Frame_Shift_Del	DEL	ENST00000533211.1	37	CCDS8150.1																																																																																				0.701	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		-	66458883	C	-	66458883	7	5	343	1	0	1	0	1	0	0	0	0	15122	797	28	0	1783	0	SPTBN2	11	66458883	Frame_Shift_Del	DEL	C	TCGA-29-1768-01A-01W-0633-09	10372613	66458883	68547633	28	18579											
PTS	5805	genome.wustl.edu	37	11	112101363	112101368	+	In_Frame_Del	DEL	GGGAAT	GGGAAT	-			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	GGGAAT	GGGAAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr11:112101363_112101368delGGGAAT	ENST00000280362.3	+	4	280_285	c.201_206delGGGAAT	c.(199-207)acgggaatg>acg	p.GM68del	PTS_ENST00000525803.1_Intron|PTS_ENST00000524931.1_Start_Codon_Del	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	68					cellular amino acid metabolic process (GO:0006520)|central nervous system development (GO:0007417)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	6-pyruvoyltetrahydropterin synthase activity (GO:0003874)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		ACCCTGCTACGGGAATGGTTATGAAT	0.388																																																0			11																																								111606578	SO:0001651	inframe_deletion	5805			U63382	CCDS8359.1	11q22.3	2014-04-01				ENSG00000150787	4.2.3.12		9689	protein-coding gene	gene with protein product		612719				8188266	Standard	NM_000317		Approved	PTPS	uc001pnj.4	Q03393		ENST00000280362.3:c.201_206delGGGAAT	11.37:g.112101363_112101368delGGGAAT	ENSP00000280362:p.Gly68_Met69del		111606573	B0YJ87|Q8WVG8	In_Frame_Del	DEL	ENST00000280362.3	37	CCDS8359.1																																																																																				0.388	PTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393541.1	NM_000317		-	112101368	GGGAAT	-	112101363	7	5	343	1	0	1	0	1	0	0	0	0	12821	1103	39	0	215	0	PTS	11	112101363	In_Frame_Del	DEL	GGGAAT	TCGA-29-1768-01A-01W-0633-09	45642480	112101363	22905153	29	18580											
AGAP2	116986	genome.wustl.edu	37	12	58123470	58123470	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr12:58123470T>A	ENST00000547588.1	-	13	2508	c.2509A>T	c.(2509-2511)Aaa>Taa	p.K837*	AGAP2_ENST00000257897.3_Nonsense_Mutation_p.K501*	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	837	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTTGTCAATTTTTTCCTCCTC	0.577																																																0			12											147	144	145					12																	58123470		2203	4300	6503	56409737	SO:0001587	stop_gained	116986			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2509A>T	12.37:g.58123470T>A	ENSP00000449241:p.Lys837*		56409737	A8K9F7|O00578|Q548E0|Q8IWU3	Nonsense_Mutation	SNP	ENST00000547588.1	37	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.924198|5.924198	0.97110|0.97110	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	T|.	0.39592|.	1.07|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.414700|0.414700	0.25540|0.25540	N|N	0.029968|0.029968	T|.	0.33147|.	0.0853|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34079|.	-0.9843|.	6|.	0.87932|0.02654	D|T	0|1	.|.	13.0225|13.0225	0.58796|0.58796	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	I|X	700|501;837	ENSP00000328160:K700I|.	ENSP00000328160:K700I|ENSP00000257897:K501X	K|K	-|-	2|1	0|0	AGAP2|AGAP2	56409737|56409737	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.902000|0.902000	0.53008|0.53008	5.413000|5.413000	0.66399|0.66399	1.978000|1.978000	0.57642|0.57642	0.379000|0.379000	0.24179|0.24179	AAA|AAA		0.577	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		A	58123470	T	A	58123470	4	1	343	1	0	0	0	0	0	1	0	0	368	1850	64	5	1097	5	AGAP2	12	58123470	Nonsense_Mutation	SNP	T	TCGA-29-1768-01A-01W-0633-09		58123470	75728425	30	18581											
LRCH1	23143	genome.wustl.edu	37	13	47269108	47269108	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr13:47269108A>G	ENST00000389798.3	+	9	1398	c.1201A>G	c.(1201-1203)Act>Gct	p.T401A	LRCH1_ENST00000311191.6_Missense_Mutation_p.T401A|LRCH1_ENST00000389797.3_Missense_Mutation_p.T401A	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	401										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGACCAGTTTACTGATAGAGC	0.403																																																0			13											130	137	135					13																	47269108		2203	4300	6503	46167109	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1201A>G	13.37:g.47269108A>G	ENSP00000374448:p.Thr401Ala		46167109	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	A	4.630	0.117181	0.08881	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.51817	0.69;0.74;0.71	5.38	0.197	0.15164	.	1.221250	0.06126	N	0.669762	T	0.21427	0.0516	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.15838	-1.0423	10	0.06494	T	0.89	-0.3336	0.3467	0.00342	0.3888:0.1732:0.2428:0.1951	.	401;401;401;401	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	A	401	ENSP00000308493:T401A;ENSP00000374448:T401A;ENSP00000374447:T401A	ENSP00000308493:T401A	T	+	1	0	LRCH1	46167109	0.263000	0.24083	0.001000	0.08648	0.954000	0.61252	0.776000	0.26704	-0.110000	0.12022	0.528000	0.53228	ACT		0.403	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		G	47269108	A	G	47269108	3	3	343	1	0	0	0	0	1	0	0	0	8932	391	14	4	1235	4	LRCH1	13	47269108	Missense_Mutation	SNP	A	TCGA-29-1768-01A-01W-0633-09		47269108	67900770	31	18582											
MYO16	23026	genome.wustl.edu	37	13	109610111	109610111	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr13:109610111G>C	ENST00000357550.2	+	16	1976	c.1935G>C	c.(1933-1935)ttG>ttC	p.L645F	MYO16_ENST00000251041.5_Missense_Mutation_p.L645F|MYO16_ENST00000356711.2_Missense_Mutation_p.L645F|MYO16_ENST00000457511.2_Missense_Mutation_p.L157F	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGGCTGTTTTGAAACGAGCCC	0.418																																																0			13											131	109	117					13																	109610111		2203	4300	6503	108408112	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1935G>C	13.37:g.109610111G>C	ENSP00000350160:p.Leu645Phe		108408112		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421052	0.62622	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.22	4.36	0.52297	Myosin head, motor domain (2);	0.000000	0.32093	U	0.006591	D	0.92818	0.7716	M	0.84846	2.72	0.50813	D	0.999899	P;P;D	0.76494	0.909;0.831;0.999	B;B;D	0.72075	0.425;0.401;0.976	D	0.92825	0.6275	9	.	.	.	.	10.7253	0.46064	0.1491:0.0:0.8509:0.0	.	157;645;645	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	F	645;645;645;645;433;157	ENSP00000349145:L645F;ENSP00000350160:L645F;ENSP00000251041:L645F;ENSP00000401633:L157F	.	L	+	3	2	MYO16	108408112	1.000000	0.71417	0.987000	0.45799	0.896000	0.52359	1.282000	0.33226	2.442000	0.82660	0.655000	0.94253	TTG		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		C	109610111	G	C	109610111	3	2	343	1	0	0	0	0	1	0	0	0	10064	1281	45	3	1997	3	MYO16	13	109610111	Missense_Mutation	SNP	G	TCGA-29-1768-01A-01W-0633-09	62341003	109610111	5559767	32	18583											
PSMC1	5700	genome.wustl.edu	37	14	90726458	90726458	+	Splice_Site	SNP	G	G	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr14:90726458G>A	ENST00000261303.8	+	3	160		c.e3-1		PSMC1_ENST00000543772.2_Intron	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AACAACTCAAGGACAAGAAAA	0.368																																																0			14											52	59	56					14																	90726458		2203	4300	6503	89796211	SO:0001630	splice_region_variant	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.58-1G>A	14.37:g.90726458G>A			89796211	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Splice_Site	SNP	ENST00000261303.8	37	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810974	0.70797	.	.	ENSG00000100764	ENST00000261303	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6313	0.91360	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC1	89796211	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	9.535000	0.98064	2.717000	0.92951	0.655000	0.94253	.		0.368	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802	Intron	A	90726458	G	A	90726458	5	1	343	1	0	0	0	0	0	0	1	0	12688	1014	35	2	67	2	PSMC1	14	90726458	Splice_Site	SNP	G	TCGA-29-1768-01A-01W-0633-09		90726458	16623082	33	18584											
SNAP23	8773	genome.wustl.edu	37	15	42807479	42807479	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:42807479G>A	ENST00000249647.3	+	5	661	c.193G>A	c.(193-195)Gac>Aac	p.D65N	SNAP23_ENST00000349777.1_Missense_Mutation_p.D65N|SNAP23_ENST00000564153.1_Missense_Mutation_p.D65N|SNAP23_ENST00000397138.1_Missense_Mutation_p.D65N|SNAP23_ENST00000567094.1_Missense_Mutation_p.D65N	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	65	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		AATAAATAAGGACATGAGAGA	0.378																																																0			15											129	125	126					15																	42807479		2203	4299	6502	40594771	SO:0001583	missense	8773			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"synaptosomal-associated protein, 23kD"			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.193G>A	15.37:g.42807479G>A	ENSP00000249647:p.Asp65Asn		40594771	O00162|Q13602|Q6IAE3	Missense_Mutation	SNP	ENST00000249647.3	37	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230101	0.95207	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	T;T;T	0.46451	0.87;0.87;0.87	5.87	5.87	0.94306	Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.89414	3.03	0.80722	D	1	P;D	0.56035	0.602;0.974	B;P	0.51701	0.259;0.677	T	0.71961	-0.4434	10	0.87932	D	0	.	19.8008	0.96506	0.0:0.0:1.0:0.0	.	65;65	O00161-2;O00161	.;SNP23_HUMAN	N	65	ENSP00000249647:D65N;ENSP00000207062:D65N;ENSP00000380327:D65N	ENSP00000249647:D65N	D	+	1	0	SNAP23	40594771	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.548000	0.98103	2.780000	0.95670	0.655000	0.94253	GAC		0.378	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		A	42807479	G	A	42807479	3	1	343	1	0	0	0	0	1	0	0	0	14832	1174	41	2	207	2	SNAP23	15	42807479	Missense_Mutation	SNP	G	TCGA-29-1768-01A-01W-0633-09		42807479	59723913	34	18585											
TUBGCP4	27229	genome.wustl.edu	37	15	43669242	43669242	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:43669242C>G	ENST00000260383.7	+	4	615	c.361C>G	c.(361-363)Cat>Gat	p.H121D	TUBGCP4_ENST00000399460.3_5'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.H121D			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	121					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTCCATATCACATGTCAACTA	0.358																																																0			15											177	153	160					15																	43669242		1851	4107	5958	41456534	SO:0001583	missense	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.361C>G	15.37:g.43669242C>G	ENSP00000260383:p.His121Asp		41456534	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37		.	.	.	.	.	.	.	.	.	.	C	21.6	4.170760	0.78452	.	.	ENSG00000137822	ENST00000260383	T	0.07327	3.2	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	L	0.56769	1.78	0.80722	D	1	P;P	0.52316	0.952;0.94	P;P	0.52710	0.707;0.583	T	0.00133	-1.2010	10	0.39692	T	0.17	-18.202	18.052	0.89353	0.0:1.0:0.0:0.0	.	121;121	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	D	121	ENSP00000260383:H121D	ENSP00000260383:H121D	H	+	1	0	TUBGCP4	41456534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.889000	0.75627	2.666000	0.90696	0.655000	0.94253	CAT		0.358	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		G	43669242	C	G	43669242	3	3	343	1	0	0	0	0	1	0	0	0	16768	478	17	3	375	3	TUBGCP4	15	43669242	Missense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09	861763	43669242	58862150	35	18586											
DMXL2	23312	genome.wustl.edu	37	15	51741380	51741380	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:51741380A>C	ENST00000251076.5	-	43	9199	c.8912T>G	c.(8911-8913)tTg>tGg	p.L2971W	DMXL2_ENST00000543779.2_Missense_Mutation_p.L2972W|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2335W|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2971						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATGGCCTGTCAATCTCCAAAC	0.413																																																0			15											83	78	79					15																	51741380		2196	4293	6489	49528672	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8912T>G	15.37:g.51741380A>C	ENSP00000251076:p.Leu2971Trp		49528672	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998002	0.74818	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.46451	0.87;0.87;0.87	5.6	5.6	0.85130	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.65688	0.2715	M	0.76574	2.34	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.997;1.0	T	0.69734	-0.5065	10	0.87932	D	0	.	16.0786	0.80985	1.0:0.0:0.0:0.0	.	2972;2335;2971;2972	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	W	2971;2972;2335;537	ENSP00000251076:L2971W;ENSP00000441858:L2972W;ENSP00000400855:L2335W	ENSP00000251076:L2971W	L	-	2	0	DMXL2	49528672	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	8.859000	0.92264	2.254000	0.74563	0.460000	0.39030	TTG		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		C	51741380	A	C	51741380	3	2	343	1	0	0	0	0	1	0	0	0	4595	131	5	5	202	5	DMXL2	15	51741380	Missense_Mutation	SNP	A	TCGA-29-1768-01A-01W-0633-09	8072138	51741380	50790012	36	18587											
GCNT3	9245	genome.wustl.edu	37	15	59910793	59910793	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:59910793T>C	ENST00000396065.1	+	3	804	c.356T>C	c.(355-357)tTc>tCc	p.F119S	GCNT3_ENST00000560585.1_Missense_Mutation_p.F119S	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	119					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAAGGAAGTTCATACAGTTC	0.468																																																0			15											78	84	82					15																	59910793		2190	4290	6480	57698085	SO:0001583	missense	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.356T>C	15.37:g.59910793T>C	ENSP00000379377:p.Phe119Ser		57698085		Missense_Mutation	SNP	ENST00000396065.1	37	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.479082	0.63849	.	.	ENSG00000140297	ENST00000396065	T	0.44881	0.91	6.16	6.16	0.99307	.	0.162303	0.56097	D	0.000035	T	0.57636	0.2067	M	0.76838	2.35	0.46416	D	0.999038	D	0.63880	0.993	P	0.56343	0.796	T	0.62699	-0.6799	10	0.59425	D	0.04	.	10.1723	0.42917	0.2437:0.0:0.0:0.7563	.	119	O95395	GCNT3_HUMAN	S	119	ENSP00000379377:F119S	ENSP00000379377:F119S	F	+	2	0	GCNT3	57698085	0.975000	0.34042	0.982000	0.44146	0.847000	0.48162	1.278000	0.33179	2.367000	0.80283	0.528000	0.53228	TTC		0.468	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		C	59910793	T	C	59910793	3	2	343	1	0	0	0	0	1	0	0	0	6302	1783	62	4	358	4	GCNT3	15	59910793	Missense_Mutation	SNP	T	TCGA-29-1768-01A-01W-0633-09	8169413	59910793	42620599	37	18588											
DPP8	54878	genome.wustl.edu	37	15	65759462	65759462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:65759462C>A	ENST00000341861.5	-	13	3264	c.1684G>T	c.(1684-1686)Gag>Tag	p.E562*	DPP8_ENST00000559233.1_Nonsense_Mutation_p.E562*|DPP8_ENST00000339244.5_Nonsense_Mutation_p.E389*|DPP8_ENST00000321147.6_Nonsense_Mutation_p.E562*|DPP8_ENST00000358939.4_Nonsense_Mutation_p.E546*|DPP8_ENST00000321118.7_Nonsense_Mutation_p.E562*|DPP8_ENST00000300141.6_Nonsense_Mutation_p.E546*	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	562					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGTCACCTCTCCAGGATTT	0.423																																																0			15											113	102	106					15																	65759462		2201	4299	6500	63546515	SO:0001587	stop_gained	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1684G>T	15.37:g.65759462C>A	ENSP00000339208:p.Glu562*		63546515	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Nonsense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	37	6.235726	0.97399	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	.	.	.	5.56	4.59	0.56863	.	0.150864	0.45126	D	0.000396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-10.9419	15.8845	0.79232	0.0:0.8645:0.1355:0.0	.	.	.	.	X	562;546;546;562;562;389;562	.	ENSP00000300141:E546X	E	-	1	0	DPP8	63546515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.854000	0.69503	2.602000	0.87976	0.467000	0.42956	GAG		0.423	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		A	65759462	C	A	65759462	4	1	343	1	0	0	0	0	0	1	0	0	4732	922	32	3	1044	3	DPP8	15	65759462	Nonsense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09	5848669	65759462	36771930	38	18589											
SGK269	79834	genome.wustl.edu	37	15	77425527	77425527	+	Silent	SNP	C	C	T			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr15:77425527C>T	ENST00000560626.2	-	6	4372	c.3897G>A	c.(3895-3897)aaG>aaA	p.K1299K	PEAK1_ENST00000312493.4_Silent_p.K1299K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1299					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGCCAGTTTCTTCAAGGCAT	0.498																																																0			15											143	141	142					15																	77425527		1894	4111	6005	75212582	SO:0001819	synonymous_variant	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3897G>A	15.37:g.77425527C>T			75212582	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	CCDS42062.1																																																																																				0.498	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			T	77425527	C	T	77425527	2	4	343	1	0	0	0	0	0	0	0	1	14214	912	32	2		2	SGK269	15	77425527	Silent	SNP	C	TCGA-29-1768-01A-01W-0633-09	11666065	77425527	25105865	39	18590											
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578403	C	A	7578403	3	1	343	1	0	0	0	0	1	0	0	0	16381	710	25	3	771	3	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09		7578403	73616807	40	18591											
MYO18A	399687	genome.wustl.edu	37	17	27446363	27446363	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr17:27446363C>G	ENST00000527372.1	-	8	1999	c.1819G>C	c.(1819-1821)Ggc>Cgc	p.G607R	MYO18A_ENST00000531253.1_Missense_Mutation_p.G607R|MYO18A_ENST00000533112.1_Missense_Mutation_p.G607R|MYO18A_ENST00000354329.4_Missense_Mutation_p.G607R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	607	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGAGGGTGCCATCCCCACAG	0.562																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											0			17											44	48	47					17																	27446363		2006	4182	6188	24470489	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1819G>C	17.37:g.27446363C>G	ENSP00000437073:p.Gly607Arg		24470489	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094270	0.36952	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.58	-4.46	0.03536	Myosin head, motor domain (2);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.483712	0.27896	N	0.017420	T	0.78698	0.4324	L	0.33245	0.995	0.30044	N	0.812321	B;B;B;B;B	0.22480	0.07;0.008;0.009;0.002;0.07	B;B;B;B;B	0.29716	0.106;0.001;0.013;0.001;0.039	T	0.64753	-0.6333	10	0.30854	T	0.27	.	14.4485	0.67370	0.0:0.1878:0.0:0.8122	.	276;219;607;607;607	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	R	607;607;607;607;607;219	ENSP00000346291:G607R;ENSP00000435932:G607R;ENSP00000434228:G607R;ENSP00000437073:G607R	ENSP00000346291:G607R	G	-	1	0	MYO18A	24470489	0.996000	0.38824	0.093000	0.20910	0.990000	0.78478	0.527000	0.22987	-0.586000	0.05898	-0.150000	0.13652	GGC		0.562	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		G	27446363	C	G	27446363	3	3	343	1	0	0	0	0	1	0	0	0	10065	594	21	3	4485	3	MYO18A	17	27446363	Missense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09	19867960	27446363	53748847	41	18592											
BRCA1	672	genome.wustl.edu	37	17	41246666	41246666	+	Frame_Shift_Del	DEL	T	T	-	rs80357587		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr17:41246666delT	ENST00000357654.3	-	10	1000	c.882delA	c.(880-882)aaafs	p.K294fs	BRCA1_ENST00000346315.3_Frame_Shift_Del_p.K294fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.K294fs|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.K247fs|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.K294fs|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	294					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCATTCTGTCTTTAGTGAGTA	0.413			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17											143	129	133					17																	41246666		2203	4300	6503	38500192	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.882delA	17.37:g.41246666delT	ENSP00000350283:p.Lys294fs		38500192	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	ENST00000357654.3	37	CCDS11453.1																																																																																				0.413	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		-	41246666	T	-	41246666	7	5	343	1	0	1	0	1	0	0	0	0	1498	1606	56	0	4835	0	BRCA1	17	41246666	Frame_Shift_Del	DEL	T	TCGA-29-1768-01A-01W-0633-09	13800303	41246666	39948544	42	18593											
NPC1	4864	genome.wustl.edu	37	18	21114410	21114410	+	Splice_Site	SNP	G	G	A	rs191776973		TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr18:21114410G>A	ENST00000269228.5	-	23	4145	c.3591C>T	c.(3589-3591)tcC>tcT	p.S1197S	NPC1_ENST00000412552.2_Splice_Site_p.S879S	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1197					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGGTACTCACGGAGCTGCCCA	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		20294	0		0	False		,,,				2504	0															0			18						G		2,4404	4.2+/-10.8	0,2,2201	56	49	52		3591	-7.6	0.9	18		52	0,8600		0,0,4300	yes	coding-synonymous-near-splice	NPC1	NM_000271.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		1197/1279	21114410	2,13004	2203	4300	6503	19368408	SO:0001630	splice_region_variant	4864			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3591+1C>T	18.37:g.21114410G>A			19368408	B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	CCDS11878.1																																																																																				0.587	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	Silent	A	21114410	G	A	21114410	5	1	343	1	0	0	0	0	0	0	1	0	10570	1130	39	1	257	1	NPC1	18	21114410	Splice_Site	SNP	G	TCGA-29-1768-01A-01W-0633-09		21114410	56962838	43	18594											
ACER1	125981	genome.wustl.edu	37	19	6333533	6333533	+	Silent	SNP	G	G	A	rs78590644	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr19:6333533G>A	ENST00000301452.4	-	1	107	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	10					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGTCCACCTCGGAGCTCTGAT	0.612													G|||	173	0.0345447	0.0998	0.0202	5008	,	,		17320	0		0.0139	False		,,,				2504	0.0133															0			19						G		393,4009		16,361,1824	62	42	49		30	-6.4	0.9	19	dbSNP_131	49	155,8441		4,147,4147	no	coding-synonymous	ACER1	NM_133492.2		20,508,5971	AA,AG,GG		1.8032,8.9278,4.216		10/265	6333533	548,12450	2201	4298	6499	6284533	SO:0001819	synonymous_variant	125981			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"Alkaline ceramidase"	18356	protein-coding gene	gene with protein product		613491	"N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.30C>T	19.37:g.6333533G>A			6284533		Silent	SNP	ENST00000301452.4	37	CCDS12161.1																																																																																				0.612	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		A	6333533	G	A	6333533	2	1	343	1	0	0	0	0	0	0	0	1	138	1103	39	1		1	ACER1	19	6333533	Silent	SNP	G	TCGA-29-1768-01A-01W-0633-09		6333533	52795450	44	18595											
ZNF835	90485	genome.wustl.edu	37	19	57175120	57175120	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr19:57175120A>C	ENST00000537055.2	-	2	1678	c.1447T>G	c.(1447-1449)Ttc>Gtc	p.F483V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	483					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GAGAAGCTGAAGGCCTTCCCG	0.642																																																0			19											124	138	133					19																	57175120		2203	4300	6503	61866932	SO:0001583	missense	90485			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1447T>G	19.37:g.57175120A>C	ENSP00000444747:p.Phe483Val		61866932	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648137	0.87958	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.46063	0.88	2.25	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64125	0.2570	M	0.87827	2.91	0.27565	N	0.950061	D	0.89917	1.0	D	0.97110	1.0	T	0.52689	-0.8542	9	0.87932	D	0	.	6.4526	0.21912	1.0:0.0:0.0:0.0	.	505	Q9Y2P0	ZN835_HUMAN	V	505;483	ENSP00000444747:F483V	ENSP00000341756:F505V	F	-	1	0	ZNF835	61866932	0.934000	0.31675	0.989000	0.46669	0.960000	0.62799	4.408000	0.59761	1.289000	0.44618	0.459000	0.35465	TTC		0.642	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		C	57175120	A	C	57175120	3	2	343	1	0	0	0	0	1	0	0	0	18186	72	3	5	168	5	ZNF835	19	57175120	Missense_Mutation	SNP	A	TCGA-29-1768-01A-01W-0633-09	50841587	57175120	1953863	45	18596											
C19orf18	147685	genome.wustl.edu	37	19	58472902	58472902	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr19:58472902T>G	ENST00000314391.3	-	5	490	c.389A>C	c.(388-390)gAg>gCg	p.E130A		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	130						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TTGTCTTTCCTCAGCCTGTGC	0.433																																																0			19											126	115	119					19																	58472902		2203	4300	6503	63164714	SO:0001583	missense	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.389A>C	19.37:g.58472902T>G	ENSP00000321519:p.Glu130Ala		63164714		Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160171	0.38119	.	.	ENSG00000177025	ENST00000314391	T	0.59364	0.27	4.14	4.14	0.48551	.	0.000000	0.46145	D	0.000313	T	0.63319	0.2501	L	0.34521	1.04	0.30823	N	0.737556	D	0.89917	1.0	D	0.91635	0.999	T	0.64537	-0.6384	10	0.87932	D	0	-44.2751	9.8381	0.40982	0.0:0.0:0.0:1.0	.	130	Q8NEA5	CS018_HUMAN	A	130	ENSP00000321519:E130A	ENSP00000321519:E130A	E	-	2	0	C19orf18	63164714	0.999000	0.42202	0.951000	0.38953	0.178000	0.23041	2.771000	0.47670	2.097000	0.63578	0.379000	0.24179	GAG		0.433	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		G	58472902	T	G	58472902	3	3	343	1	0	0	0	0	1	0	0	0	1910	1551	54	5	266	5	C19orf18	19	58472902	Missense_Mutation	SNP	T	TCGA-29-1768-01A-01W-0633-09	1297782	58472902	656081	46	18597											
ADAMTS1	9510	genome.wustl.edu	37	21	28213473	28213474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr21:28213473_28213474insA	ENST00000284984.3	-	4	1675_1676	c.1221_1222insT	c.(1219-1224)tttaacfs	p.N408fs		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	408	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGTGGCATGTTAAACACGTGGC	0.525																																																0			21																																								27135345	SO:0001589	frameshift_variant	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1222dupT	21.37:g.28213476_28213476dupA	ENSP00000284984:p.Asn408fs		27135344	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Frame_Shift_Ins	INS	ENST00000284984.3	37	CCDS33524.1																																																																																				0.525	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			A	28213474	-	A	28213473	7	5	343	1	0	1	1	0	0	0	0	0	255	1754	61	0	1705	0	ADAMTS1	21	28213473	Frame_Shift_Ins	INS	-	TCGA-29-1768-01A-01W-0633-09		28213473	19916422	47	18598											
GGT5	2687	genome.wustl.edu	37	22	24622737	24622737	+	Splice_Site	SNP	T	T	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr22:24622737T>C	ENST00000327365.4	-	7	1318		c.e7-2		GGT5_ENST00000418439.2_Splice_Site|GGT5_ENST00000398292.3_Splice_Site|GGT5_ENST00000263112.7_Splice_Site	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGTTGAACCCTGGAGAGAGGT	0.547																																																0			22											116	105	108					22																	24622737		2203	4300	6503	22952737	SO:0001630	splice_region_variant	2687			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.902-2A>G	22.37:g.24622737T>C			22952737	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Splice_Site	SNP	ENST00000327365.4	37	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	T	7.442	0.640816	0.14386	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	.	.	.	3.19	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7882	0.40688	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GGT5	22952737	1.000000	0.71417	0.990000	0.47175	0.060000	0.15804	6.071000	0.71229	1.471000	0.48121	0.392000	0.25879	.		0.547	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121	Intron	C	24622737	T	C	24622737	5	2	343	1	0	0	0	0	0	0	1	0	6362	1594	55	4	887	4	GGT5	22	24622737	Splice_Site	SNP	T	TCGA-29-1768-01A-01W-0633-09		24622737	26681829	48	18599											
TTLL8	164714	genome.wustl.edu	37	22	50488547	50488547	+	Missense_Mutation	SNP	G	G	A	rs117334902	byFrequency	TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chr22:50488547G>A	ENST00000266182.6	-	2	180	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.R61W			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	97					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CCATTGACCCGGGCGCCTTCA	0.642													G|||	81	0.0161741	8e-04	0.0115	5008	,	,		15129	0.003		0.0427	False		,,,				2504	0.0266															0			22						G	TRP/ARG	32,4210		1,30,2090	42	47	45		289	1.6	0	22	dbSNP_132	45	371,8063		7,357,3853	no	missense	TTLL8	XM_003403494.1	101	8,387,5943	AA,AG,GG		4.3989,0.7544,3.1792	probably-damaging	97/841	50488547	403,12273	2121	4217	6338	48830674	SO:0001583	missense	164714					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.181C>T	22.37:g.50488547G>A	ENSP00000266182:p.Arg61Trp		48830674	B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37		37	0.01694139194139194	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	33	0.04353562005277045	G	11.94	1.787767	0.31593	0.007544	0.043989	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.22945	1.93;1.93;1.93	4.85	1.56	0.23342	.	3.365200	0.01025	N	0.004049	T	0.04092	0.0114	N	0.24115	0.695	0.09310	N	1	B	0.33904	0.431	B	0.29942	0.109	T	0.16453	-1.0402	10	0.66056	D	0.02	.	4.7678	0.13141	0.0:0.6253:0.1788:0.1958	.	61	B5MDV0	.	W	61;61;97	ENSP00000266182:R61W;ENSP00000387509:R61W;ENSP00000392252:R97W	ENSP00000266182:R61W	R	-	1	2	TTLL8	48830674	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.066000	0.11598	0.453000	0.26858	-0.308000	0.09152	CGG		0.642	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		A	50488547	G	A	50488547	3	1	343	1	0	0	0	0	1	0	0	0	16733	1115	39	1	2374	1	TTLL8	22	50488547	Missense_Mutation	SNP	G	TCGA-29-1768-01A-01W-0633-09	25865810	50488547	816019	49	18600											
ASMTL	8623	genome.wustl.edu	37	X	1537002	1537002	+	Silent	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chrX:1537002C>G	ENST00000381317.3	-	11	1418	c.1386G>C	c.(1384-1386)acG>acC	p.T462T	ASMTL_ENST00000381333.4_Silent_p.T446T|ASMTL_ENST00000416733.2_Silent_p.T386T|ASMTL_ENST00000534940.1_Silent_p.T404T	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	462	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGTGCACCCGTGCAGCCTG	0.582													c|||	3352	0.669329	0.3699	0.7161	5008	,	,		19444	0.8294		0.6859	False		,,,				2504	0.8589															0			X							,,	1770,2444		379,1012,716	82	99	93		1212,1338,1386	-2.9	0.5	X		93	5876,2566		2051,1774,396	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	2430,2786,1112	GG,GC,CC		30.3956,42.0028,39.586	,,	404/564,446/606,462/622	1537002	7646,5010	2107	4221	6328	1497002	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1386G>C	X.37:g.1537002C>G			1497002	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	CCDS43917.1																																																																																				0.582	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		G	1537002	C	G	1537002	2	3	343	1	0	0	0	0	0	0	0	1	1046	639	23	3		3	ASMTL	23	1537002	Silent	SNP	C	TCGA-29-1768-01A-01W-0633-09		1537002	153733558	50	18601											
SMARCA1	6594	genome.wustl.edu	37	X	128624125	128624125	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chrX:128624125G>C	ENST00000371122.4	-	15	1989	c.1860C>G	c.(1858-1860)ttC>ttG	p.F620L	SMARCA1_ENST00000371121.3_Missense_Mutation_p.F608L|SMARCA1_ENST00000371123.1_Missense_Mutation_p.F608L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	620	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGATGAGACGGAATACACGTA	0.363																																																0			X											144	119	127					X																	128624125		2203	4300	6503	128451806	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1860C>G	X.37:g.128624125G>C	ENSP00000360163:p.Phe620Leu		128451806	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979445	0.74360	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.38	1.54	0.23209	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.73908	0.3647	N	0.21194	0.64	0.51482	D	0.999924	D;D;D;D	0.69078	0.995;0.995;0.997;0.995	D;D;D;D	0.70935	0.936;0.936;0.971;0.913	T	0.72398	-0.4306	10	0.87932	D	0	-9.4728	9.9267	0.41496	0.3697:0.0:0.6303:0.0	.	599;620;608;620	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	L	608;608;620;599	ENSP00000360162:F608L;ENSP00000360164:F608L;ENSP00000360163:F620L;ENSP00000404275:F599L	ENSP00000360162:F608L	F	-	3	2	SMARCA1	128451806	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.087000	0.30865	-0.054000	0.13266	0.523000	0.50628	TTC		0.363	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		C	128624125	G	C	128624125	3	2	343	1	0	0	0	0	1	0	0	0	14771	1165	41	3	1344	3	SMARCA1	23	128624125	Missense_Mutation	SNP	G	TCGA-29-1768-01A-01W-0633-09	127087123	128624125	26646435	51	18602											
BCORL1	63035	genome.wustl.edu	37	X	129147048	129147048	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1768-01A-01W-0633-09	TCGA-29-1768-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bde7b115-28f2-4475-862b-d07187de8cb5	7165cabf-882f-4999-a7ff-c14a275f0670	g.chrX:129147048C>G	ENST00000218147.7	+	4	497	c.300C>G	c.(298-300)gaC>gaG	p.D100E	BCORL1_ENST00000303743.5_Missense_Mutation_p.D100E|BCORL1_ENST00000540052.1_Missense_Mutation_p.D100E|BCORL1_ENST00000359304.2_Missense_Mutation_p.D100E			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	100					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAAAAATGGACTACGCTGGGA	0.612																																																0			X											44	41	42					X																	129147048		2201	4298	6499	128974729	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.300C>G	X.37:g.129147048C>G	ENSP00000218147:p.Asp100Glu		128974729	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749390	0.49257	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.47528	0.86;1.23;0.84;0.86	5.28	5.28	0.74379	.	0.000000	0.37348	N	0.002126	T	0.27594	0.0678	N	0.19112	0.55	0.25242	N	0.989742	P;B	0.35745	0.518;0.056	B;B	0.33339	0.162;0.01	T	0.22382	-1.0218	10	0.02654	T	1	-18.0445	12.9649	0.58478	0.0:0.8288:0.1712:0.0	.	100;100	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	E	100	ENSP00000218147:D100E;ENSP00000307541:D100E;ENSP00000352253:D100E;ENSP00000437775:D100E	ENSP00000218147:D100E	D	+	3	2	BCORL1	128974729	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.344000	0.52174	2.203000	0.70933	0.529000	0.55759	GAC		0.612	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		G	129147048	C	G	129147048	3	3	343	1	0	0	0	0	1	0	0	0	1387	564	20	3	310	3	BCORL1	23	129147048	Missense_Mutation	SNP	C	TCGA-29-1768-01A-01W-0633-09	522923	129147048	26123512	52	18603											
APITD1	378708	genome.wustl.edu	37	1	10493956	10493956	+	Missense_Mutation	SNP	G	G	C	rs141209616		TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:10493956G>C	ENST00000309048.3	+	2	184	c.109G>C	c.(109-111)Gac>Cac	p.D37H	APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000470413.2_Missense_Mutation_p.D37H|APITD1_ENST00000602787.1_Missense_Mutation_p.D37H|APITD1_ENST00000602296.1_Missense_Mutation_p.D37H|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.D37H|APITD1-CORT_ENST00000465026.1_Intron	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	37					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGTTGCATTGGACAAAGAGAT	0.483																																																0			1											145	137	140					1																	10493956		2203	4300	6503	10416543	SO:0001583	missense	378708			BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"centromere protein S"	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.109G>C	1.37:g.10493956G>C	ENSP00000308583:p.Asp37His		10416543	Q8NFE5|Q8NFG5	Missense_Mutation	SNP	ENST00000309048.3	37	CCDS115.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214591	0.79352	.	.	ENSG00000175279;ENSG00000175279;ENSG00000175279;ENSG00000251503;ENSG00000251503	ENST00000556104;ENST00000556817;ENST00000309048;ENST00000400900;ENST00000470413	.	.	.	6.07	5.14	0.70334	Histone-fold (1);	0.309310	0.33438	N	0.004919	T	0.74137	0.3677	L	0.55834	1.745	0.43313	D	0.995324	D;D	0.89917	0.998;1.0	D;D	0.71870	0.953;0.975	T	0.75396	-0.3332	9	0.51188	T	0.08	-17.3625	14.759	0.69590	0.071:0.0:0.929:0.0	.	37;37	Q8N2Z9-2;Q8N2Z9	.;CENPS_HUMAN	H	37	.	ENSP00000383692:D37H	D	+	1	0	APITD1-CORT;APITD1	10416543	1.000000	0.71417	0.875000	0.34327	0.985000	0.73830	4.673000	0.61604	1.546000	0.49388	0.655000	0.94253	GAC		0.483	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2	NM_199294		C	10493956	G	C	10493956	3	2	344	1	0	0	0	0	1	0	0	0	775	1174	41	3	115	3	APITD1	1	10493956	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09		10493956	238756665	1	18604											
VPS13D	55187	genome.wustl.edu	37	1	12409306	12409306	+	Silent	SNP	C	C	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:12409306C>G	ENST00000358136.3	+	46	9436	c.9306C>G	c.(9304-9306)ccC>ccG	p.P3102P	VPS13D_ENST00000356315.4_Silent_p.P3077P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGCCCGGCCCAAAGGATTGG	0.493																																																0			1											128	131	130					1																	12409306		2203	4300	6503	12331893	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9306C>G	1.37:g.12409306C>G			12331893		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251426	0.22880	.	.	ENSG00000048707	ENST00000011700	T	0.66638	-0.22	5.88	1.82	0.25136	.	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66567	-0.5891	7	0.87932	D	0	.	5.3894	0.16236	0.3288:0.4825:0.0:0.1887	.	.	.	.	R	1924	ENSP00000011700:P1924R	ENSP00000011700:P1924R	P	+	2	0	VPS13D	12331893	0.928000	0.31464	1.000000	0.80357	0.997000	0.91878	0.032000	0.13732	0.402000	0.25451	0.655000	0.94253	CCA		0.493	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		G	12409306	C	G	12409306	2	3	344	1	0	0	0	0	0	0	0	1	17192	581	21	3		3	VPS13D	1	12409306	Silent	SNP	C	TCGA-29-1769-01A-01W-0639-09	1915350	12409306	236841315	2	18605											
SLC30A2	7780	genome.wustl.edu	37	1	26368259	26368259	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:26368259A>C	ENST00000374278.3	-	5	839	c.623T>G	c.(622-624)gTc>gGc	p.V208G	SLC30A2_ENST00000374276.3_Missense_Mutation_p.V257G|SLC30A2_ENST00000498060.1_5'Flank	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	208					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGAGAAGACGAAGGTGCA	0.527																																																0			1											173	131	145					1																	26368259		2203	4300	6503	26240846	SO:0001583	missense	7780			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.623T>G	1.37:g.26368259A>C	ENSP00000363396:p.Val208Gly		26240846	Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	CCDS272.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016339	0.75161	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.64618	-0.11;-0.11	5.78	5.78	0.91487	.	0.652877	0.14131	N	0.339350	T	0.69450	0.3112	L	0.45285	1.41	0.49687	D	0.999817	B;P	0.35033	0.029;0.481	B;P	0.49192	0.062;0.602	T	0.69401	-0.5155	10	0.87932	D	0	-2.2255	15.0892	0.72180	1.0:0.0:0.0:0.0	.	208;257	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	G	208;257	ENSP00000363396:V208G;ENSP00000363394:V257G	ENSP00000363394:V257G	V	-	2	0	SLC30A2	26240846	1.000000	0.71417	0.995000	0.50966	0.882000	0.50991	9.191000	0.94940	2.201000	0.70794	0.459000	0.35465	GTC		0.527	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		C	26368259	A	C	26368259	3	2	344	1	0	0	0	0	1	0	0	0	14558	275	10	5	360	5	SLC30A2	1	26368259	Missense_Mutation	SNP	A	TCGA-29-1769-01A-01W-0639-09	13958953	26368259	222882362	3	18606											
GPBP1L1	60313	genome.wustl.edu	37	1	46096212	46096212	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:46096212C>T	ENST00000290795.3	-	10	2332	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_Missense_Mutation_p.A371T			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	371					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACAGGGAGGGCAAGACCATTT	0.498																																																0			1											255	178	204					1																	46096212		2203	4300	6503	45868799	SO:0001583	missense	60313				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.1111G>A	1.37:g.46096212C>T	ENSP00000290795:p.Ala371Thr		45868799	D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	CCDS528.1	.	.	.	.	.	.	.	.	.	.	c	10.03	1.239488	0.22711	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.22539	1.95;1.95	6.17	-4.56	0.03431	.	0.386952	0.31859	N	0.006956	T	0.04182	0.0116	N	0.02011	-0.69	0.18873	N	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.31447	-0.9943	10	0.13853	T	0.58	-0.0752	1.6408	0.02752	0.4996:0.1186:0.153:0.2288	.	371	Q9HC44	GPBL1_HUMAN	T	371	ENSP00000290795:A371T;ENSP00000347224:A371T	ENSP00000290795:A371T	A	-	1	0	GPBP1L1	45868799	0.515000	0.26210	0.848000	0.33437	0.474000	0.32979	-0.272000	0.08560	-0.385000	0.07833	-0.701000	0.03672	GCC		0.498	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		T	46096212	C	T	46096212	3	4	344	1	0	0	0	0	1	0	0	0	6596	710	25	2	325	2	GPBP1L1	1	46096212	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	19727953	46096212	203154409	4	18607											
LEPR	3953	genome.wustl.edu	37	1	66101914	66101914	+	Nonsense_Mutation	SNP	C	C	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:66101914C>G	ENST00000349533.6	+	20	2899	c.2714C>G	c.(2713-2715)tCa>tGa	p.S905*	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CATACAGCATCAGTGACATGT	0.338																																																0			1											154	159	157					1																	66101914		2203	4300	6503	65874502	SO:0001587	stop_gained	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2714C>G	1.37:g.66101914C>G	ENSP00000330393:p.Ser905*		65874502	Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766022	0.98477	.	.	ENSG00000116678	ENST00000349533	.	.	.	5.79	5.79	0.91817	.	0.638552	0.15753	N	0.246323	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.771	14.8226	0.70085	0.1439:0.8561:0.0:0.0	.	.	.	.	X	905	.	ENSP00000330393:S905X	S	+	2	0	LEPR	65874502	1.000000	0.71417	0.996000	0.52242	0.827000	0.46813	3.214000	0.51161	2.727000	0.93392	0.655000	0.94253	TCA		0.338	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		G	66101914	C	G	66101914	4	3	344	1	0	0	0	0	0	1	0	0	8728	838	29	3	3014	3	LEPR	1	66101914	Nonsense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	20005702	66101914	183148707	5	18608											
CLCA4	22802	genome.wustl.edu	37	1	87045993	87045993	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:87045993G>C	ENST00000370563.3	+	14	2767	c.2725G>C	c.(2725-2727)Gta>Cta	p.V909L	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	909					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGGGTCTGTTGTAATTGTTAA	0.333																																																0			1											96	84	88					1																	87045993		1818	4064	5882	86818581	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2725G>C	1.37:g.87045993G>C	ENSP00000359594:p.Val909Leu		86818581	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642031	0.29157	.	.	ENSG00000016602	ENST00000370563	T	0.03212	4.01	5.98	4.12	0.48240	.	0.335306	0.28031	N	0.016873	T	0.01254	0.0041	L	0.43923	1.385	0.09310	N	0.999991	B	0.30406	0.278	B	0.26517	0.07	T	0.45963	-0.9225	10	0.30078	T	0.28	-5.32	8.7894	0.34841	0.2459:0.0:0.754:0.0	.	909	Q14CN2	CLCA4_HUMAN	L	909	ENSP00000359594:V909L	ENSP00000359594:V909L	V	+	1	0	CLCA4	86818581	0.001000	0.12720	0.018000	0.16275	0.026000	0.11368	0.368000	0.20399	1.542000	0.49330	0.591000	0.81541	GTA		0.333	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		C	87045993	G	C	87045993	3	2	344	1	0	0	0	0	1	0	0	0	3459	1377	48	3	2779	3	CLCA4	1	87045993	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	20944079	87045993	162204628	6	18609											
ABL2	27	genome.wustl.edu	37	1	179076961	179076961	+	Silent	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:179076961C>T	ENST00000502732.1	-	12	3644	c.3441G>A	c.(3439-3441)ctG>ctA	p.L1147L	ABL2_ENST00000408940.3_Silent_p.L1111L|ABL2_ENST00000367623.4_Silent_p.L1126L|ABL2_ENST00000512653.1_Silent_p.L1132L|ABL2_ENST00000511413.1_Silent_p.L1044L|ABL2_ENST00000504405.1_Silent_p.L1008L|ABL2_ENST00000344730.3_Silent_p.L1029L|ABL2_ENST00000507173.1_Silent_p.L1023L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1147	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTAGCTCCTGCAGGCTGAGTT	0.507			T	ETV6	AML																																		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0			1											68	70	69					1																	179076961		2203	4300	6503	177343584	SO:0001819	synonymous_variant	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3441G>A	1.37:g.179076961C>T			177343584	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	CCDS30947.1																																																																																				0.507	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		T	179076961	C	T	179076961	2	4	344	1	0	0	0	0	0	0	0	1	93	697	25	2		2	ABL2	1	179076961	Silent	SNP	C	TCGA-29-1769-01A-01W-0639-09	92030968	179076961	70173660	7	18610											
PTGS2	5743	genome.wustl.edu	37	1	186643623	186643623	+	Silent	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:186643623C>T	ENST00000367468.5	-	10	1813	c.1677G>A	c.(1675-1677)aaG>aaA	p.K559K	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	559					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AGGGACAGCCCTTCACGTTAT	0.453																																																0			1											183	165	171					1																	186643623		2203	4300	6503	184910246	SO:0001819	synonymous_variant	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1677G>A	1.37:g.186643623C>T			184910246	A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	CCDS1371.1																																																																																				0.453	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		T	186643623	C	T	186643623	2	4	344	1	0	0	0	0	0	0	0	1	12759	680	24	2		2	PTGS2	1	186643623	Silent	SNP	C	TCGA-29-1769-01A-01W-0639-09	7566662	186643623	62606998	8	18611											
CACNA1S	779	genome.wustl.edu	37	1	201010687	201010687	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:201010687C>G	ENST00000362061.3	-	41	5305	c.5079G>C	c.(5077-5079)gaG>gaC	p.E1693D	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1674D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1693					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGTCTCTGTCTCTTCTGGGA	0.567																																																0			1											82	68	73					1																	201010687		2203	4300	6503	199277310	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5079G>C	1.37:g.201010687C>G	ENSP00000355192:p.Glu1693Asp		199277310	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	8.892	0.954292	0.18431	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96041	-3.89;-3.82	3.98	2.03	0.26663	.	7739.340000	0.00166	U	0.000000	D	0.90909	0.7143	L	0.29908	0.895	0.09310	N	1	B	0.19817	0.039	B	0.19148	0.024	T	0.79967	-0.1580	10	0.15499	T	0.54	.	5.1233	0.14871	0.0:0.6696:0.2143:0.1161	.	1693	Q13698	CAC1S_HUMAN	D	1693;1674	ENSP00000355192:E1693D;ENSP00000356307:E1674D	ENSP00000355192:E1693D	E	-	3	2	CACNA1S	199277310	0.005000	0.15991	0.003000	0.11579	0.070000	0.16714	0.119000	0.15626	0.603000	0.29913	0.462000	0.41574	GAG		0.567	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201010687	C	G	201010687	3	3	344	1	0	0	0	0	1	0	0	0	2547	912	32	3	558	3	CACNA1S	1	201010687	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	14367064	201010687	48239934	9	18612											
RYR2	6262	genome.wustl.edu	37	1	237951345	237951345	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr1:237951345G>C	ENST00000366574.2	+	92	13703	c.13386G>C	c.(13384-13386)ttG>ttC	p.L4462F	RYR2_ENST00000360064.6_Missense_Mutation_p.L4468F|RYR2_ENST00000542537.1_Missense_Mutation_p.L4446F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4462					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACAAAAGTTGAGGCAGCTTC	0.398																																																0			1											87	96	93					1																	237951345		2095	4245	6340	236017968	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13386G>C	1.37:g.237951345G>C	ENSP00000355533:p.Leu4462Phe		236017968	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556059	0.45487	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93426	-3.22;-3.22;-3.22	4.65	-3.1	0.05315	Ryanodine Receptor TM 4-6 (1);	0.140212	0.28011	U	0.016954	D	0.84683	0.5526	N	0.24115	0.695	0.31370	N	0.680257	B	0.28850	0.225	B	0.33521	0.165	T	0.75897	-0.3155	10	0.51188	T	0.08	.	5.5955	0.17325	0.3756:0.4562:0.1682:0.0	.	4462	Q92736	RYR2_HUMAN	F	4462;4468;4446	ENSP00000355533:L4462F;ENSP00000353174:L4468F;ENSP00000443798:L4446F	ENSP00000353174:L4468F	L	+	3	2	RYR2	236017968	0.034000	0.19679	0.033000	0.17914	0.849000	0.48306	0.197000	0.17197	-0.400000	0.07656	0.585000	0.79938	TTG		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237951345	G	C	237951345	3	2	344	1	0	0	0	0	1	0	0	0	13772	1281	45	3	13752	3	RYR2	1	237951345	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	36940658	237951345	11299276	10	18613											
PXDN	7837	genome.wustl.edu	37	2	1670234	1670234	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr2:1670234G>C	ENST00000252804.4	-	10	1093	c.1043C>G	c.(1042-1044)cCa>cGa	p.P348R	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	348	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGTATTCTGTGGCTGGATTAC	0.517																																																0			2											24	27	26					2																	1670234		1990	4155	6145	1649241	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1043C>G	2.37:g.1670234G>C	ENSP00000252804:p.Pro348Arg		1649241	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.824536|4.824536	0.90955|0.90955	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.35048	.|1.33	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.123056	.|0.56097	.|D	.|0.000032	T|T	0.72550|0.72550	0.3474|0.3474	H|H	0.96365|0.96365	3.81|3.81	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.995	T|T	0.82645|0.82645	-0.0355|-0.0355	5|10	.|0.87932	.|D	.|0	-18.7789|-18.7789	16.6763|16.6763	0.85280|0.85280	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|348;348	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	D|R	344|348	.|ENSP00000252804:P348R	.|ENSP00000252804:P348R	H|P	-|-	1|2	0|0	PXDN|PXDN	1649241|1649241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.772000|9.772000	0.98984|0.98984	2.369000|2.369000	0.80426|0.80426	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.517	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		C	1670234	G	C	1670234	3	2	344	1	0	0	0	0	1	0	0	0	12850	1348	47	3	3452	3	PXDN	2	1670234	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09		1670234	241529139	11	18614											
PIGF	5281	genome.wustl.edu	37	2	46839390	46839390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr2:46839390C>T	ENST00000281382.6	-	4	584	c.414G>A	c.(412-414)tgG>tgA	p.W138*	PIGF_ENST00000306465.4_Nonsense_Mutation_p.W138*|PIGF_ENST00000495933.1_5'UTR	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	138					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ACACTCTTAGCCATGCTTTGA	0.284																																																0			2											24	20	22					2																	46839390		2156	4232	6388	46692894	SO:0001587	stop_gained	5281				CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"Phosphatidylinositol glycan anchor biosynthesis"	8962	protein-coding gene	gene with protein product		600153	"phosphatidylinositol glycan, class F"			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.414G>A	2.37:g.46839390C>T	ENSP00000281382:p.Trp138*		46692894	Q8WW20	Nonsense_Mutation	SNP	ENST00000281382.6	37	CCDS1827.1	.	.	.	.	.	.	.	.	.	.	C	37	6.129205	0.97310	.	.	ENSG00000151665	ENST00000281382;ENST00000306465	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8112	19.9893	0.97361	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000281382:W138X	W	-	3	0	PIGF	46692894	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.336000	0.72954	2.826000	0.97356	0.563000	0.77884	TGG		0.284	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250749.2	NM_173074		T	46839390	C	T	46839390	4	4	344	1	0	0	0	0	0	1	0	0	11887	740	26	2	336	2	PIGF	2	46839390	Nonsense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	45169156	46839390	196359983	12	18615											
TMEM131	23505	genome.wustl.edu	37	2	98426216	98426216	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr2:98426216C>A	ENST00000186436.5	-	19	2218	c.1990G>T	c.(1990-1992)Gct>Tct	p.A664S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	664						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCAATCACAGCCTTCACAGGG	0.408																																																0			2											68	67	67					2																	98426216		1943	4144	6087	97792648	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1990G>T	2.37:g.98426216C>A	ENSP00000186436:p.Ala664Ser		97792648		Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046883	0.93740	.	.	ENSG00000075568	ENST00000186436	T	0.33865	1.39	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47328	-0.9126	10	0.28530	T	0.3	-16.5983	20.5541	0.99286	0.0:1.0:0.0:0.0	.	664	Q92545	TM131_HUMAN	S	664	ENSP00000186436:A664S	ENSP00000186436:A664S	A	-	1	0	TMEM131	97792648	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.371000	0.79600	2.864000	0.98301	0.551000	0.68910	GCT		0.408	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		A	98426216	C	A	98426216	3	1	344	1	0	0	0	0	1	0	0	0	16044	739	26	3	3753	3	TMEM131	2	98426216	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	51586826	98426216	144773157	13	18616											
NPAS2	4862	genome.wustl.edu	37	2	101604708	101604708	+	Silent	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr2:101604708G>A	ENST00000335681.5	+	17	2082	c.1797G>A	c.(1795-1797)ctG>ctA	p.L599L	NPAS2_ENST00000542504.1_Silent_p.L664L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	599					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L599L(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCAGCACCTGCTCAGAGAAT	0.567																																																1	Substitution - coding silent(1)	lung(1)	2											50	55	54					2																	101604708		2200	4298	6498	100971140	SO:0001819	synonymous_variant	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1797G>A	2.37:g.101604708G>A			100971140	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346493	0.24426	.	.	ENSG00000170485	ENST00000433408	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	T	0.65544	0.2701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63028	-0.6728	4	.	.	.	.	13.5145	0.61533	0.0803:0.0:0.9197:0.0	.	.	.	.	T	98	.	.	A	+	1	0	NPAS2	100971140	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.648000	0.37271	2.673000	0.90976	0.655000	0.94253	GCT		0.567	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			A	101604708	G	A	101604708	2	1	344	1	0	0	0	0	0	0	0	1	10563	1306	46	2		2	NPAS2	2	101604708	Silent	SNP	G	TCGA-29-1769-01A-01W-0639-09	3178492	101604708	141594665	14	18617											
TTC21B	79809	genome.wustl.edu	37	2	166797588	166797588	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr2:166797588T>G	ENST00000243344.7	-	6	796	c.659A>C	c.(658-660)aAa>aCa	p.K220T	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	220					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TAGTTGTAATTTCATTTTCTT	0.403																																																0			2											105	103	104					2																	166797588		2203	4300	6503	166505834	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.659A>C	2.37:g.166797588T>G	ENSP00000243344:p.Lys220Thr		166505834	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560814	0.86335	.	.	ENSG00000123607	ENST00000243344	T	0.50813	0.73	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);	0.044669	0.85682	D	0.000000	T	0.67813	0.2933	M	0.81802	2.56	0.80722	D	1	D;D	0.67145	0.996;0.985	P;P	0.61397	0.888;0.731	T	0.72833	-0.4173	10	0.62326	D	0.03	-25.1854	15.6847	0.77400	0.0:0.0:0.0:1.0	.	220;220	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	T	220	ENSP00000243344:K220T	ENSP00000243344:K220T	K	-	2	0	TTC21B	166505834	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	6.249000	0.72427	2.165000	0.68154	0.528000	0.53228	AAA		0.403	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		G	166797588	T	G	166797588	3	3	344	1	0	0	0	0	1	0	0	0	16688	1841	64	5	3387	5	TTC21B	2	166797588	Missense_Mutation	SNP	T	TCGA-29-1769-01A-01W-0639-09	65192880	166797588	76401785	15	18618											
GPR155	151556	genome.wustl.edu	37	2	175324626	175324626	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr2:175324626G>A	ENST00000392552.2	-	10	1989	c.1751C>T	c.(1750-1752)aCa>aTa	p.T584I	GPR155_ENST00000392551.2_Missense_Mutation_p.T584I|GPR155_ENST00000295500.4_Missense_Mutation_p.T584I	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	584					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						AATAGAGCTTGTAAAAAGTTC	0.398																																																0			2											69	68	68					2																	175324626		2203	4300	6503	175032872	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1751C>T	2.37:g.175324626G>A	ENSP00000376335:p.Thr584Ile		175032872	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058651	0.36277	.	.	ENSG00000163328	ENST00000392552;ENST00000510236;ENST00000392551;ENST00000295500	T;T;T	0.46819	0.86;0.86;0.86	5.89	5.01	0.66863	.	0.627413	0.18153	N	0.150022	T	0.36880	0.0983	L	0.36672	1.1	0.25928	N	0.983027	B;B	0.22983	0.078;0.055	B;B	0.18561	0.022;0.015	T	0.13202	-1.0518	10	0.35671	T	0.21	-2.9556	11.1109	0.48232	0.139:0.0:0.861:0.0	.	64;584	F5H464;Q7Z3F1	.;GP155_HUMAN	I	584;64;584;584	ENSP00000376335:T584I;ENSP00000376334:T584I;ENSP00000295500:T584I	ENSP00000295500:T584I	T	-	2	0	GPR155	175032872	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.443000	0.59994	2.793000	0.96121	0.561000	0.74099	ACA		0.398	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		A	175324626	G	A	175324626	3	1	344	1	0	0	0	0	1	0	0	0	6660	1377	48	2	889	2	GPR155	2	175324626	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	8527038	175324626	67874747	16	18619											
MAP2	4133	genome.wustl.edu	37	2	210558691	210558691	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr2:210558691A>C	ENST00000360351.4	+	7	2303	c.1797A>C	c.(1795-1797)agA>agC	p.R599S	MAP2_ENST00000447185.1_Missense_Mutation_p.R595S|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	599					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GTGACACTAGAGAAAGTGTCC	0.423																																					Pancreas(27;423 979 28787 29963)											0			2											85	81	82					2																	210558691		2203	4300	6503	210266936	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1797A>C	2.37:g.210558691A>C	ENSP00000353508:p.Arg599Ser		210266936	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520505	0.44866	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26223	1.75;1.75	6.05	6.05	0.98169	MAP2/Tau projection (1);	0.089115	0.49916	D	0.000137	T	0.21387	0.0515	L	0.34521	1.04	0.38796	D	0.955094	B;B	0.22146	0.053;0.065	B;B	0.24701	0.032;0.055	T	0.06991	-1.0796	10	0.39692	T	0.17	-25.4175	11.6016	0.51006	0.9314:0.0:0.0686:0.0	.	595;599	P11137-3;P11137	.;MAP2_HUMAN	S	599;595	ENSP00000353508:R599S;ENSP00000392164:R595S	ENSP00000353508:R599S	R	+	3	2	MAP2	210266936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.700000	0.47085	2.320000	0.78422	0.528000	0.53228	AGA		0.423	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		C	210558691	A	C	210558691	3	2	344	1	0	0	0	0	1	0	0	0	9235	301	11	5	1811	5	MAP2	2	210558691	Missense_Mutation	SNP	A	TCGA-29-1769-01A-01W-0639-09	35234065	210558691	32640682	17	18620											
ERC2	26059	genome.wustl.edu	37	3	55733437	55733437	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr3:55733437T>G	ENST00000288221.6	-	16	3071	c.2816A>C	c.(2815-2817)cAa>cCa	p.Q939P		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	939						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATTGGAATGTTGCGACCTCCC	0.458																																																0			3											227	237	234					3																	55733437		2050	4196	6246	55708477	SO:0001583	missense	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2816A>C	3.37:g.55733437T>G	ENSP00000288221:p.Gln939Pro		55708477	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899776	0.33535	.	.	ENSG00000187672	ENST00000288221	T	0.31510	1.49	5.66	5.66	0.87406	.	0.059343	0.64402	D	0.000002	T	0.18257	0.0438	N	0.08118	0	0.40294	D	0.978532	B	0.02656	0.0	B	0.01281	0.0	T	0.08289	-1.0729	10	0.25106	T	0.35	-21.6725	16.2026	0.82095	0.0:0.0:0.0:1.0	.	939	O15083	ERC2_HUMAN	P	939	ENSP00000288221:Q939P	ENSP00000288221:Q939P	Q	-	2	0	ERC2	55708477	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	3.078000	0.50096	2.285000	0.76669	0.533000	0.62120	CAA		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		G	55733437	T	G	55733437	3	3	344	1	0	0	0	0	1	0	0	0	5211	1812	63	5	65	5	ERC2	3	55733437	Missense_Mutation	SNP	T	TCGA-29-1769-01A-01W-0639-09		55733437	142288993	18	18621											
OR5K3	403277	genome.wustl.edu	37	3	98110427	98110427	+	Silent	SNP	A	A	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr3:98110427A>G	ENST00000383695.1	+	1	918	c.918A>G	c.(916-918)agA>agG	p.R306R	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TGAAGAAGAGAAAATTTTGTC	0.269																																																0			3											33	38	36					3																	98110427		2108	4214	6322	99593117	SO:0001819	synonymous_variant	403277				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.918A>G	3.37:g.98110427A>G			99593117		Silent	SNP	ENST00000383695.1	37	CCDS33803.1																																																																																				0.269	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			G	98110427	A	G	98110427	2	3	344	1	0	0	0	0	0	0	0	1	11168	243	9	4		4	OR5K3	3	98110427	Silent	SNP	A	TCGA-29-1769-01A-01W-0639-09	42376990	98110427	99912003	19	18622											
SIDT1	54847	genome.wustl.edu	37	3	113329868	113329868	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr3:113329868G>C	ENST00000264852.4	+	18	2460	c.1734G>C	c.(1732-1734)atG>atC	p.M578I	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.M578I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	578					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCTCCTTCATGTACATGATCG	0.502																																																0			3											164	155	158					3																	113329868		2203	4300	6503	114812558	SO:0001583	missense	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1734G>C	3.37:g.113329868G>C	ENSP00000264852:p.Met578Ile		114812558	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064324	0.93898	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.25250	1.81;1.81	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.73430	2.235	0.80722	D	1	D;D	0.59767	0.983;0.986	P;D	0.66351	0.906;0.943	T	0.46456	-0.9190	10	0.45353	T	0.12	-27.822	20.0396	0.97574	0.0:0.0:1.0:0.0	.	578;578	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	I	578	ENSP00000264852:M578I;ENSP00000377416:M578I	ENSP00000264852:M578I	M	+	3	0	SIDT1	114812558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.776000	0.99001	2.728000	0.93425	0.643000	0.83706	ATG		0.502	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		C	113329868	G	C	113329868	3	2	344	1	0	0	0	0	1	0	0	0	14305	1377	48	3	1804	3	SIDT1	3	113329868	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	15219441	113329868	84692562	20	18623											
ARHGAP31	57514	genome.wustl.edu	37	3	119133984	119133984	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr3:119133984G>A	ENST00000264245.4	+	12	3740	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1070					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGCAGCAAGGAGAGTTCACC	0.582																																					Pancreas(7;176 297 5394 51128 51241)											0			3											163	179	173					3																	119133984		2141	4250	6391	120616674	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3208G>A	3.37:g.119133984G>A	ENSP00000264245:p.Glu1070Lys		120616674	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	6.887	0.533148	0.13188	.	.	ENSG00000031081	ENST00000264245	T	0.08008	3.14	5.39	4.49	0.54785	.	0.337669	0.24978	N	0.034089	T	0.07503	0.0189	L	0.32530	0.975	0.09310	N	1	P	0.39665	0.682	B	0.35413	0.202	T	0.20472	-1.0274	10	0.42905	T	0.14	.	13.4681	0.61268	0.0:0.1566:0.8434:0.0	.	1070	Q2M1Z3	RHG31_HUMAN	K	1070	ENSP00000264245:E1070K	ENSP00000264245:E1070K	E	+	1	0	ARHGAP31	120616674	0.985000	0.35326	0.044000	0.18714	0.184000	0.23303	2.282000	0.43461	1.456000	0.47831	0.655000	0.94253	GAG		0.582	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			A	119133984	G	A	119133984	3	1	344	1	0	0	0	0	1	0	0	0	880	1175	41	2	3254	2	ARHGAP31	3	119133984	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	5804116	119133984	78888446	21	18624											
GOLGB1	2804	genome.wustl.edu	37	3	121414133	121414133	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr3:121414133T>A	ENST00000340645.5	-	13	5347	c.5222A>T	c.(5221-5223)aAg>aTg	p.K1741M	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K1746M	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1741					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGACTGAAACTTCTTAGAAAG	0.368																																																0			3											103	101	102					3																	121414133		2203	4300	6503	122896823	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5222A>T	3.37:g.121414133T>A	ENSP00000341848:p.Lys1741Met		122896823	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	7.111	0.576056	0.13623	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16597	2.34;2.33	5.62	5.62	0.85841	.	0.643000	0.14461	N	0.318166	T	0.14960	0.0361	N	0.14661	0.345	0.23537	N	0.997466	P;P;P;D	0.53885	0.904;0.904;0.904;0.963	B;B;B;P	0.46275	0.439;0.439;0.439;0.51	T	0.12451	-1.0547	10	0.49607	T	0.09	.	13.7743	0.63044	0.0:0.0:0.0:1.0	.	1666;1746;1746;1741	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	M	1741;1746	ENSP00000341848:K1741M;ENSP00000377275:K1746M	ENSP00000341848:K1741M	K	-	2	0	GOLGB1	122896823	0.948000	0.32251	0.171000	0.22900	0.463000	0.32649	4.651000	0.61447	2.123000	0.65237	0.460000	0.39030	AAG		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121414133	T	A	121414133	3	1	344	1	0	0	0	0	1	0	0	0	6565	1609	56	5	4597	5	GOLGB1	3	121414133	Missense_Mutation	SNP	T	TCGA-29-1769-01A-01W-0639-09	2280149	121414133	76608297	22	18625											
PARP14	54625	genome.wustl.edu	37	3	122418275	122418275	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr3:122418275A>G	ENST00000474629.2	+	6	1140	c.874A>G	c.(874-876)Aaa>Gaa	p.K292E		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CGACTTCAATAAAATGCCACT	0.398																																																0			3											84	77	79					3																	122418275		1905	4124	6029	123900965	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.874A>G	3.37:g.122418275A>G	ENSP00000418194:p.Lys292Glu		123900965	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.517543	0.27123	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.72051	-0.62	5.46	3.0	0.34707	.	0.689370	0.13949	N	0.351661	T	0.51822	0.1697	L	0.34521	1.04	0.09310	N	1	B;P	0.38922	0.053;0.651	B;B	0.27887	0.053;0.084	T	0.40794	-0.9544	10	0.52906	T	0.07	.	6.8884	0.24216	0.6353:0.2893:0.0754:0.0	.	292;292	Q460N5-4;Q460N5	.;PAR14_HUMAN	E	292;211	ENSP00000418194:K292E	ENSP00000381228:K211E	K	+	1	0	PARP14	123900965	0.000000	0.05858	0.052000	0.19188	0.895000	0.52256	-0.100000	0.10990	0.463000	0.27118	0.533000	0.62120	AAA		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		G	122418275	A	G	122418275	3	3	344	1	0	0	0	0	1	0	0	0	11458	363	13	4	896	4	PARP14	3	122418275	Missense_Mutation	SNP	A	TCGA-29-1769-01A-01W-0639-09	1004142	122418275	75604155	23	18626											
PAK2	5062	genome.wustl.edu	37	3	196529942	196529942	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr3:196529942G>C	ENST00000327134.3	+	4	665	c.343G>C	c.(343-345)Gag>Cag	p.E115Q		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	115	Autoregulatory region. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CACCAAACTAGAGCAAAAGAA	0.418																																																0			3											99	87	91					3																	196529942		2203	4300	6503	198014339	SO:0001583	missense	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.343G>C	3.37:g.196529942G>C	ENSP00000314067:p.Glu115Gln		198014339	Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514879	0.85389	.	.	ENSG00000180370	ENST00000327134	D	0.87809	-2.3	5.51	4.64	0.57946	PAK-box/P21-Rho-binding (1);	0.046468	0.85682	D	0.000000	D	0.93223	0.7841	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.93676	0.6994	10	0.62326	D	0.03	.	13.3641	0.60674	0.0759:0.0:0.9241:0.0	.	115	Q13177	PAK2_HUMAN	Q	115	ENSP00000314067:E115Q	ENSP00000314067:E115Q	E	+	1	0	PAK2	198014339	1.000000	0.71417	0.973000	0.42090	0.998000	0.95712	9.430000	0.97488	1.335000	0.45486	0.563000	0.77884	GAG		0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		C	196529942	G	C	196529942	3	2	344	1	0	0	0	0	1	0	0	0	11401	943	33	3	353	3	PAK2	3	196529942	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	74111667	196529942	1492488	24	18627											
FBXO38	81545	genome.wustl.edu	37	5	147785856	147785856	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr5:147785856C>A	ENST00000340253.5	+	7	935	c.767C>A	c.(766-768)aCa>aAa	p.T256K	FBXO38_ENST00000513826.1_Missense_Mutation_p.T256K|FBXO38_ENST00000296701.6_Missense_Mutation_p.T256K|FBXO38_ENST00000394370.3_Missense_Mutation_p.T256K|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	256					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTAGTAACAGGCTTAGCC	0.373																																																0			5											90	91	91					5																	147785856		2203	4300	6503	147766049	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.767C>A	5.37:g.147785856C>A	ENSP00000342023:p.Thr256Lys		147766049	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.024203	0.93462	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.34472	2.32;1.36;2.32;1.36	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.996;0.996;0.999	D;D;D	0.83275	0.922;0.922;0.996	T	0.51293	-0.8724	10	0.66056	D	0.02	-13.5855	18.2787	0.90092	0.0:1.0:0.0:0.0	.	256;256;256	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	K	256	ENSP00000342023:T256K;ENSP00000296701:T256K;ENSP00000377895:T256K;ENSP00000426410:T256K	ENSP00000296701:T256K	T	+	2	0	FBXO38	147766049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.749000	0.94314	0.655000	0.94253	ACA		0.373	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		A	147785856	C	A	147785856	3	1	344	1	0	0	0	0	1	0	0	0	5746	478	17	3	789	3	FBXO38	5	147785856	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09		147785856	33129404	25	18628											
SLC36A3	285641	genome.wustl.edu	37	5	150660715	150660715	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr5:150660715G>A	ENST00000335230.3	-	9	1415	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F	SLC36A3_ENST00000377713.3_Missense_Mutation_p.S376F	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	335						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGCCGATAGAGTACATCAG	0.517																																																0			5											221	170	187					5																	150660715		2203	4300	6503	150640908	SO:0001583	missense	285641			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1004C>T	5.37:g.150660715G>A	ENSP00000334750:p.Ser335Phe		150640908	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825711	0.71143	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02258	4.37;4.37	4.06	4.06	0.47325	.	0.114234	0.64402	D	0.000008	T	0.15392	0.0371	M	0.89601	3.045	0.58432	D	0.999999	D;P;D	0.61080	0.989;0.815;0.957	D;P;P	0.64776	0.929;0.619;0.875	T	0.03981	-1.0987	10	0.87932	D	0	-12.9579	16.7998	0.85611	0.0:0.0:1.0:0.0	.	376;335;320	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	F	335;376	ENSP00000334750:S335F;ENSP00000366942:S376F	ENSP00000334750:S335F	S	-	2	0	SLC36A3	150640908	1.000000	0.71417	0.896000	0.35187	0.937000	0.57800	3.855000	0.55957	2.249000	0.74217	0.561000	0.74099	TCT		0.517	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		A	150660715	G	A	150660715	3	1	344	1	0	0	0	0	1	0	0	0	14598	942	33	2	416	2	SLC36A3	5	150660715	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	2874859	150660715	30254545	26	18629											
KCNK17	89822	genome.wustl.edu	37	6	39278756	39278756	+	Missense_Mutation	SNP	C	C	T	rs143146161	byFrequency	TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr6:39278756C>T	ENST00000373231.4	-	2	497	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	KCNK17_ENST00000453413.2_Missense_Mutation_p.A89T	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	89					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						AGGAGGCTGGCTCCGTTTTTG	0.562													C|||	8	0.00159744	0	0.0029	5008	,	,		12216	0		0.003	False		,,,				2504	0.0031															0			6						C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	123	114	117		265,265	-1.4	0	6	dbSNP_134	117	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	58,58	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign,benign	89/272,89/333	39278756	10,12996	2203	4300	6503	39386734	SO:0001583	missense	89822			AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.265G>A	6.37:g.39278756C>T	ENSP00000362328:p.Ala89Thr		39386734	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	9.351	1.065518	0.20067	2.27E-4	0.001047	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.16897	2.31;2.68	5.42	-1.41	0.08941	.	0.718395	0.12155	N	0.494553	T	0.02494	0.0076	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.18263	0.021;0.021	T	0.43015	-0.9417	10	0.62326	D	0.03	.	3.7895	0.08715	0.2717:0.2985:0.0:0.4298	.	89;89	E9PB46;Q96T54	.;KCNKH_HUMAN	T	89	ENSP00000362328:A89T;ENSP00000401271:A89T	ENSP00000362328:A89T	A	-	1	0	KCNK17	39386734	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	-0.836000	0.04382	-0.276000	0.09206	0.542000	0.68232	GCC		0.562	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		T	39278756	C	T	39278756	3	4	344	1	0	0	0	0	1	0	0	0	8064	797	28	2	881	2	KCNK17	6	39278756	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09		39278756	131836311	27	18630											
FOXP4	116113	genome.wustl.edu	37	6	41533624	41533624	+	Silent	SNP	G	G	C	rs114654485		TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr6:41533624G>C	ENST00000307972.4	+	1	138	c.126G>C	c.(124-126)acG>acC	p.T42T	FOXP4_ENST00000373057.3_Silent_p.T42T|FOXP4_ENST00000373063.3_Silent_p.T42T|FOXP4_ENST00000409208.1_Silent_p.T42T|FOXP4_ENST00000373060.1_Silent_p.T42T			Q8IVH2	FOXP4_HUMAN	forkhead box P4	42					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAAGTGGCACGGGCAGGGAAG	0.632																																																0			6											79	77	78					6																	41533624		2203	4300	6503	41641602	SO:0001819	synonymous_variant	116113			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.126G>C	6.37:g.41533624G>C			41641602	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Silent	SNP	ENST00000307972.4	37	CCDS34447.1																																																																																				0.632	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		C	41533624	G	C	41533624	2	2	344	1	0	0	0	0	0	0	0	1	6029	1103	39	3		3	FOXP4	6	41533624	Silent	SNP	G	TCGA-29-1769-01A-01W-0639-09	2254868	41533624	129581443	28	18631											
AKAP7	9465	genome.wustl.edu	37	6	131602806	131602806	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr6:131602806C>G	ENST00000431975.2	+	8	1085	c.987C>G	c.(985-987)agC>agG	p.S329R	AKAP7_ENST00000342266.4_Missense_Mutation_p.S62R|AKAP7_ENST00000263050.3_Missense_Mutation_p.S65R|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000368123.4_Missense_Mutation_p.S307R|AKAP7_ENST00000474850.2_Missense_Mutation_p.S85R|AKAP7_ENST00000537868.1_Intron	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	329	PKA-RII-alpha subunit binding domain. {ECO:0000250}.					cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GGGAGGGGAGCTCTGTGAAAA	0.532																																																0			6											43	48	46					6																	131602806		2203	4300	6503	131644499	SO:0001583	missense	9465			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.987C>G	6.37:g.131602806C>G	ENSP00000405252:p.Ser329Arg		131644499	B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491634	0.44249	.	.	ENSG00000118507	ENST00000431975;ENST00000368123;ENST00000263050;ENST00000342266;ENST00000474850	T;T	0.36699	1.24;1.25	5.97	5.1	0.69264	Protein kinase A anchor protein, RI-RII subunit-binding domain (1);	0.327256	0.34200	N	0.004175	T	0.12944	0.0314	L	0.27053	0.805	0.27143	N	0.961615	P;P;P	0.43477	0.782;0.782;0.808	B;B;B	0.39503	0.301;0.301;0.231	T	0.07501	-1.0769	10	0.66056	D	0.02	-33.1446	8.7185	0.34425	0.1515:0.7735:0.0:0.075	.	62;85;329	Q2TAJ5;O43687;Q9P0M2	.;AKA7A_HUMAN;AKA7G_HUMAN	R	329;307;65;62;85	ENSP00000405252:S329R;ENSP00000357105:S307R	ENSP00000263050:S65R	S	+	3	2	AKAP7	131644499	0.999000	0.42202	0.994000	0.49952	0.944000	0.59088	2.250000	0.43178	2.837000	0.97791	0.655000	0.94253	AGC		0.532	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		G	131602806	C	G	131602806	3	3	344	1	0	0	0	0	1	0	0	0	456	796	28	3	1073	3	AKAP7	6	131602806	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	90069182	131602806	39512261	29	18632											
BCLAF1	9774	genome.wustl.edu	37	6	136597138	136597138	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr6:136597138A>G	ENST00000531224.1	-	5	1777	c.1525T>C	c.(1525-1527)Ttt>Ctt	p.F509L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.F509L|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.F507L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F507L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.F507L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	509					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTGTAATCAAAGAGGTCTTTG	0.398																																					Colon(142;1534 1789 5427 7063 28491)											0			6											213	223	220					6																	136597138		2202	4300	6502	136638831	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1525T>C	6.37:g.136597138A>G	ENSP00000435210:p.Phe509Leu		136638831	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.674917	0.67928	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000003	T	0.09862	0.0242	N	0.08118	0	0.80722	D	1	P;D;P	0.57257	0.955;0.979;0.955	P;P;P	0.61477	0.777;0.889;0.777	T	0.40175	-0.9577	10	0.38643	T	0.18	-9.8055	15.8878	0.79264	1.0:0.0:0.0:0.0	.	507;507;509	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	L	509;507;509;507;507;509	ENSP00000435210:F509L;ENSP00000229446:F507L;ENSP00000435441:F509L;ENSP00000434826:F507L;ENSP00000376159:F507L;ENSP00000431734:F509L	ENSP00000229446:F507L	F	-	1	0	BCLAF1	136638831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.446000	0.80609	2.214000	0.71695	0.373000	0.22412	TTT		0.398	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		G	136597138	A	G	136597138	3	3	344	1	0	0	0	0	1	0	0	0	1383	72	3	4	1273	4	BCLAF1	6	136597138	Missense_Mutation	SNP	A	TCGA-29-1769-01A-01W-0639-09	4994332	136597138	34517929	30	18633											
DNAH11	8701	genome.wustl.edu	37	7	21639672	21639672	+	Missense_Mutation	SNP	A	A	G	rs374198643		TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr7:21639672A>G	ENST00000409508.3	+	15	2966	c.2935A>G	c.(2935-2937)Aat>Gat	p.N979D	DNAH11_ENST00000328843.6_Missense_Mutation_p.N979D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	979	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGTTATGCAATAGTTTTAG	0.368									Kartagener syndrome																																							0			7											61	58	59					7																	21639672		1847	4088	5935	21606197	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2935A>G	7.37:g.21639672A>G	ENSP00000475939:p.Asn979Asp		21606197	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	0.877	-0.730110	0.03135	.	.	ENSG00000105877	ENST00000328843	T	0.21031	2.03	5.72	0.731	0.18277	.	1.308160	0.04811	N	0.435146	T	0.09158	0.0226	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26258	-1.0108	9	0.02654	T	1	.	9.1574	0.37000	0.5965:0.0:0.4035:0.0	.	979	Q96DT5	DYH11_HUMAN	D	979	ENSP00000330671:N979D	ENSP00000330671:N979D	N	+	1	0	DNAH11	21606197	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	0.987000	0.29603	-0.037000	0.13646	0.533000	0.62120	AAT		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		G	21639672	A	G	21639672	3	3	344	1	0	0	0	0	1	0	0	0	4599	130	5	4	2993	4	DNAH11	7	21639672	Missense_Mutation	SNP	A	TCGA-29-1769-01A-01W-0639-09		21639672	137498991	31	18634											
OGDH	4967	genome.wustl.edu	37	7	44736597	44736597	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr7:44736597G>A	ENST00000222673.5	+	15	2027	c.1985G>A	c.(1984-1986)gGc>gAc	p.G662D	OGDH_ENST00000449767.1_Missense_Mutation_p.G658D|OGDH_ENST00000439616.2_Missense_Mutation_p.G512D|OGDH_ENST00000444676.1_Missense_Mutation_p.G677D|OGDH_ENST00000543843.1_Missense_Mutation_p.G613D|OGDH_ENST00000447398.1_Missense_Mutation_p.G673D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	662					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ATGGCGTTTGGCTCGCTCCTG	0.582																																																0			7											112	84	94					7																	44736597		2203	4300	6503	44703122	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1985G>A	7.37:g.44736597G>A	ENSP00000222673:p.Gly662Asp		44703122	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076102	0.94000	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.13	5.13	0.70059	Transketolase-like, pyrimidine-binding domain (2);	0.049346	0.85682	D	0.000000	D	0.97259	0.9104	H	0.97587	4.035	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.83275	0.99;0.993;0.993;0.996;0.993;0.993	D	0.98525	1.0625	10	0.87932	D	0	-29.1455	18.3765	0.90437	0.0:0.0:1.0:0.0	.	457;512;658;673;564;662	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	D	512;658;673;677;662;613	ENSP00000398576:G512D;ENSP00000392878:G658D;ENSP00000388183:G673D;ENSP00000414662:G677D;ENSP00000222673:G662D;ENSP00000443821:G613D	ENSP00000222673:G662D	G	+	2	0	OGDH	44703122	1.000000	0.71417	0.691000	0.30163	0.832000	0.47134	9.652000	0.98499	2.642000	0.89623	0.650000	0.86243	GGC		0.582	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44736597	G	A	44736597	3	1	344	1	0	0	0	0	1	0	0	0	10839	1203	42	2	2212	2	OGDH	7	44736597	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	23096925	44736597	114402066	32	18635											
MEPCE	56257	genome.wustl.edu	37	7	100028149	100028149	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr7:100028149C>T	ENST00000310512.2	+	1	896	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_Intron|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	170					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCAAGAGGCGCAGGCGGGT	0.597																																																0			7											37	42	41					7																	100028149		2196	4281	6477	99866085	SO:0001583	missense	56257			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.508C>T	7.37:g.100028149C>T	ENSP00000308546:p.Arg170Cys		99866085	B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173169	0.57584	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	L	0.52011	1.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.76798	-0.2826	9	0.87932	D	0	-13.6299	14.9172	0.70807	0.0:1.0:0.0:0.0	.	170	Q7L2J0	MEPCE_HUMAN	C	170	.	ENSP00000308546:R170C	R	+	1	0	MEPCE	99866085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.715000	0.37971	2.389000	0.81357	0.561000	0.74099	CGC		0.597	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			T	100028149	C	T	100028149	3	4	344	1	0	0	0	0	1	0	0	0	9477	768	27	1	510	1	MEPCE	7	100028149	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	55291552	100028149	59110514	33	18636											
RELN	5649	genome.wustl.edu	37	7	103159825	103159825	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr7:103159825C>A	ENST00000428762.1	-	49	7966	c.7807G>T	c.(7807-7809)Ggc>Tgc	p.G2603C	RELN_ENST00000424685.2_Missense_Mutation_p.G2603C|RELN_ENST00000343529.5_Missense_Mutation_p.G2603C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2603					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGGTAATGCCTCCATTGACA	0.418																																					NSCLC(146;835 1944 15585 22231 52158)											0			7											154	128	137					7																	103159825		2203	4300	6503	102947061	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7807G>T	7.37:g.103159825C>A	ENSP00000392423:p.Gly2603Cys		102947061	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443977	0.83993	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	D;D;D	0.84516	-1.86;-1.86;-1.86	5.87	4.99	0.66335	Neuraminidase (3);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93312	0.6685	10	0.87932	D	0	.	16.4923	0.84205	0.132:0.868:0.0:0.0	.	2603;2603	P78509-2;P78509	.;RELN_HUMAN	C	2603;2603;2603;120;2603	ENSP00000392423:G2603C;ENSP00000345694:G2603C;ENSP00000388446:G2603C	ENSP00000345694:G2603C	G	-	1	0	RELN	102947061	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.461000	0.80834	1.472000	0.48140	0.655000	0.94253	GGC		0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		A	103159825	C	A	103159825	3	1	344	1	0	0	0	0	1	0	0	0	13223	681	24	3	2643	3	RELN	7	103159825	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	3131676	103159825	55978838	34	18637											
CLCN1	1180	genome.wustl.edu	37	7	143029909	143029909	+	Silent	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr7:143029909G>A	ENST00000343257.2	+	12	1431	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	448					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGTCAGCTGTGTGGATTCACC	0.512																																																0			7											184	162	169					7																	143029909		2203	4300	6503	142740031	SO:0001819	synonymous_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1344G>A	7.37:g.143029909G>A			142740031	A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	CCDS5881.1																																																																																				0.512	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		A	143029909	G	A	143029909	2	1	344	1	0	0	0	0	0	0	0	1	3462	1364	48	2		2	CLCN1	7	143029909	Silent	SNP	G	TCGA-29-1769-01A-01W-0639-09	39870084	143029909	16108754	35	18638											
CUL1	8454	genome.wustl.edu	37	7	148484102	148484102	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr7:148484102G>C	ENST00000325222.4	+	13	1648	c.1369G>C	c.(1369-1371)Gaa>Caa	p.E457Q	CUL1_ENST00000602748.1_Missense_Mutation_p.E457Q|CUL1_ENST00000409469.1_Missense_Mutation_p.E457Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	457					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAAGTACATAGAAGACAAAGA	0.507																																																0			7											135	127	130					7																	148484102		2203	4300	6503	148115035	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1369G>C	7.37:g.148484102G>C	ENSP00000326804:p.Glu457Gln		148115035	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270010	0.95429	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75154	-0.91;-0.91	5.81	5.81	0.92471	Cullin, N-terminal (1);Cullin homology (3);	0.048140	0.85682	D	0.000000	T	0.82199	0.4985	L	0.48362	1.52	0.80722	D	1	B;D	0.89917	0.303;1.0	B;D	0.69654	0.055;0.965	T	0.76971	-0.2761	10	0.23891	T	0.37	-40.5521	20.0825	0.97783	0.0:0.0:1.0:0.0	.	384;457	E7EWR0;Q13616	.;CUL1_HUMAN	Q	457;457;415;384	ENSP00000387160:E457Q;ENSP00000326804:E457Q	ENSP00000326804:E457Q	E	+	1	0	CUL1	148115035	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.467000	0.97671	2.746000	0.94184	0.655000	0.94253	GAA		0.507	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		C	148484102	G	C	148484102	3	2	344	1	0	0	0	0	1	0	0	0	4054	943	33	3	1415	3	CUL1	7	148484102	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	5454193	148484102	10654561	36	18639											
SLC7A2	6542	genome.wustl.edu	37	8	17402079	17402079	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr8:17402079G>T	ENST00000494857.1	+	4	714	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	SLC7A2_ENST00000470360.1_Missense_Mutation_p.D206Y|SLC7A2_ENST00000004531.10_Missense_Mutation_p.D206Y|SLC7A2_ENST00000398090.3_Missense_Mutation_p.D206Y|SLC7A2_ENST00000522656.1_Missense_Mutation_p.D166Y	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	166					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAATATCCCGATTTTTTTGC	0.398																																																0			8											105	102	103					8																	17402079		2203	4300	6503	17446455	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.496G>T	8.37:g.17402079G>T	ENSP00000419140:p.Asp166Tyr		17446455	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374404	0.82573	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.52	5.52	0.82312	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97394	0.9991	10	0.87932	D	0	.	19.8219	0.96602	0.0:0.0:1.0:0.0	.	206;206;166	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	Y	166;166;206;206;206	ENSP00000419140:D166Y;ENSP00000430464:D166Y;ENSP00000419873:D206Y;ENSP00000004531:D206Y;ENSP00000381164:D206Y	ENSP00000004531:D206Y	D	+	1	0	SLC7A2	17446455	1.000000	0.71417	0.994000	0.49952	0.731000	0.41821	9.823000	0.99369	2.767000	0.95098	0.563000	0.77884	GAT		0.398	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		T	17402079	G	T	17402079	3	4	344	1	0	0	0	0	1	0	0	0	14700	1058	37	3	626	3	SLC7A2	8	17402079	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09		17402079	128961943	37	18640											
TCEA1	6917	genome.wustl.edu	37	8	54923033	54923033	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr8:54923033A>T	ENST00000521604.2	-	2	486	c.83T>A	c.(82-84)cTa>cAa	p.L28Q	TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Missense_Mutation_p.L28Q|TCEA1_ENST00000518784.1_Missense_Mutation_p.L28Q|TCEA1_ENST00000520534.1_Missense_Mutation_p.L28Q|TCEA1_ENST00000396401.3_Intron	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	28	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			AAGCTCCTTTAGCAAATCCAA	0.343			T	PLAG1	salivary adenoma																																		Dom	yes		8	8q11.2	6917	"transcription elongation factor A (SII), 1"		E	0			8											35	32	33					8																	54923033		1796	4064	5860	55085586	SO:0001583	missense	6917			X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"General transcription factors"	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.83T>A	8.37:g.54923033A>T	ENSP00000428426:p.Leu28Gln		55085586	A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.641270	0.47153	.	.	ENSG00000187735	ENST00000521604;ENST00000522635;ENST00000520534;ENST00000518784;ENST00000519704	.	.	.	5.42	5.42	0.78866	Transcription factor IIS, N-terminal (4);Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type (1);	0.088865	0.47093	U	0.000249	D	0.87645	0.6229	H	0.97635	4.045	0.58432	D	0.999995	P;D	0.89917	0.943;1.0	D;D	0.91635	0.944;0.999	D	0.91434	0.5168	9	0.87932	D	0	-1.142	12.9809	0.58564	1.0:0.0:0.0:0.0	.	28;28	B7Z4S1;P23193	.;TCEA1_HUMAN	Q	28	.	ENSP00000428868:L28Q	L	-	2	0	TCEA1	55085586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.268000	0.72552	2.063000	0.61619	0.459000	0.35465	CTA		0.343	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756		T	54923033	A	T	54923033	3	4	344	1	0	0	0	0	1	0	0	0	15667	420	15	5	858	5	TCEA1	8	54923033	Missense_Mutation	SNP	A	TCGA-29-1769-01A-01W-0639-09	37520954	54923033	91440989	38	18641											
MTERFD1	51001	genome.wustl.edu	37	8	97251755	97251755	+	Silent	SNP	T	T	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr8:97251755T>C	ENST00000287025.3	-	8	1316	c.1218A>G	c.(1216-1218)tcA>tcG	p.S406S	KB-1043D8.6_ENST00000520575.1_RNA|MTERFD1_ENST00000524341.1_Silent_p.S162S|MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000522822.1_Silent_p.S285S	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		406					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AGTCCTGTACTGATGCTTTGG	0.289																																																0			8											58	60	59					8																	97251755		2201	4297	6498	97320931	SO:0001819	synonymous_variant	51001																														ENST00000287025.3:c.1218A>G	8.37:g.97251755T>C			97320931	B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	CCDS6270.1																																																																																				0.289	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			C	97251755	T	C	97251755	2	2	344	1	0	0	0	0	0	0	0	1	9919	1567	55	4		4	MTERFD1	8	97251755	Silent	SNP	T	TCGA-29-1769-01A-01W-0639-09	42328722	97251755	49112267	39	18642											
RAD21	5885	genome.wustl.edu	37	8	117869599	117869599	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr8:117869599T>C	ENST00000297338.2	-	6	882	c.595A>G	c.(595-597)Acc>Gcc	p.T199A	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	199					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGATTGCTGGTGCTCTGTTCA	0.368																																																0			8											136	133	134					8																	117869599		2203	4300	6503	117938780	SO:0001583	missense	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.595A>G	8.37:g.117869599T>C	ENSP00000297338:p.Thr199Ala		117938780	A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.318593	0.23994	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	T;T;T	0.51325	0.71;1.58;1.59	5.33	5.33	0.75918	.	0.147583	0.64402	D	0.000011	T	0.36580	0.0972	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20438	-1.0275	10	0.08381	T	0.77	-18.5544	15.6	0.76616	0.0:0.0:0.0:1.0	.	199	O60216	RAD21_HUMAN	A	199	ENSP00000297338:T199A;ENSP00000429342:T199A;ENSP00000427923:T199A	ENSP00000297338:T199A	T	-	1	0	RAD21	117938780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.596000	0.67570	2.152000	0.67230	0.460000	0.39030	ACC		0.368	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		C	117869599	T	C	117869599	3	2	344	1	0	0	0	0	1	0	0	0	12984	1696	59	4	1336	4	RAD21	8	117869599	Missense_Mutation	SNP	T	TCGA-29-1769-01A-01W-0639-09	20617844	117869599	28494423	40	18643											
KIF27	55582	genome.wustl.edu	37	9	86502046	86502046	+	Missense_Mutation	SNP	G	G	A	rs138059115	byFrequency	TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr9:86502046G>A	ENST00000297814.2	-	9	2292	c.2149C>T	c.(2149-2151)Cgc>Tgc	p.R717C	KIF27_ENST00000334204.2_Missense_Mutation_p.R717C|KIF27_ENST00000413982.1_Missense_Mutation_p.R717C|KIF27_ENST00000376347.1_Missense_Mutation_p.R108C	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	717					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTAAGTATGCGTTCTGAATTC	0.269													G|||	6	0.00119808	0.0023	0	5008	,	,		16847	0		0.003	False		,,,				2504	0															0			9						G	CYS/ARG	0,4404		0,0,2202	84	80	82		2149	2.4	1	9	dbSNP_134	82	3,8589	3.0+/-9.4	0,3,4293	no	missense	KIF27	NM_017576.1	180	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	benign	717/1402	86502046	3,12993	2202	4296	6498	85691866	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2149C>T	9.37:g.86502046G>A	ENSP00000297814:p.Arg717Cys		85691866	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	6	0.0027472527472527475	3	0.006097560975609756	0	0.0	0	0.0	3	0.00395778364116095	G	8.469	0.857057	0.17106	0.0	3.49E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.27	2.36	0.29203	.	0.564317	0.14377	N	0.323407	T	0.16557	0.0398	N	0.14661	0.345	0.27360	N	0.955993	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.13845	-1.0494	10	0.54805	T	0.06	.	4.5892	0.12299	0.233:0.3377:0.4293:0.0	.	717;717;717	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	C	717;717;717;108	ENSP00000297814:R717C;ENSP00000401688:R717C;ENSP00000333928:R717C;ENSP00000365525:R108C	ENSP00000297814:R717C	R	-	1	0	KIF27	85691866	0.998000	0.40836	0.999000	0.59377	0.910000	0.53928	1.018000	0.30002	0.339000	0.23719	-0.680000	0.03767	CGC		0.269	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		A	86502046	G	A	86502046	3	1	344	1	0	0	0	0	1	0	0	0	8296	1145	40	1	2096	1	KIF27	9	86502046	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09		86502046	54711385	41	18644											
HABP4	22927	genome.wustl.edu	37	9	99227688	99227688	+	Silent	SNP	C	C	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr9:99227688C>G	ENST00000375249.4	+	3	657	c.582C>G	c.(580-582)ggC>ggG	p.G194G	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GTATGCGCGGCAGAGGCAGAG	0.488																																																0			9											103	116	112					9																	99227688		2203	4300	6503	98267509	SO:0001819	synonymous_variant	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.582C>G	9.37:g.99227688C>G			98267509		Silent	SNP	ENST00000375249.4	37	CCDS6719.1																																																																																				0.488	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		G	99227688	C	G	99227688	2	3	344	1	0	0	0	0	0	0	0	1	6939	697	25	3		3	HABP4	9	99227688	Silent	SNP	C	TCGA-29-1769-01A-01W-0639-09	12725642	99227688	41985743	42	18645											
TRIM32	22954	genome.wustl.edu	37	9	119460735	119460735	+	Silent	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr9:119460735C>T	ENST00000450136.1	+	2	875	c.714C>T	c.(712-714)cgC>cgT	p.R238R	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.R238R	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	238					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTGTGTCTCGCTGTGACTACT	0.532																																					Esophageal Squamous(92;212 1916 19711 26951)											0			9											74	63	67					9																	119460735		2203	4300	6503	118500556	SO:0001819	synonymous_variant	22954			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.714C>T	9.37:g.119460735C>T			118500556	Q9NQP8	Silent	SNP	ENST00000450136.1	37	CCDS6817.1																																																																																				0.532	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		T	119460735	C	T	119460735	2	4	344	1	0	0	0	0	0	0	0	1	16506	784	28	2		2	TRIM32	9	119460735	Silent	SNP	C	TCGA-29-1769-01A-01W-0639-09	20233047	119460735	21752696	43	18646											
C9orf119	375757	genome.wustl.edu	37	9	131048285	131048285	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr9:131048285G>A	ENST00000320188.5	+	4	616	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	SWI5_ENST00000419867.2_Missense_Mutation_p.V141M|SWI5_ENST00000608796.1_Missense_Mutation_p.V141M|SWI5_ENST00000418976.1_Missense_Mutation_p.V101M|SWI5_ENST00000495313.1_Missense_Mutation_p.V110M	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	206					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											CATCAAGGATGTGGGGCAGAT	0.532																																																0			9											102	101	102					9																	131048285		2090	4231	6321	130088106	SO:0001583	missense	375757			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 119"	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.616G>A	9.37:g.131048285G>A	ENSP00000316609:p.Val206Met		130088106	Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	CCDS43883.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.88|17.88|17.88	3.497305|3.497305|3.497305	0.64186|0.64186|0.64186	.|.|.	.|.|.	ENSG00000175854|ENSG00000175854|ENSG00000175854	ENST00000418976|ENST00000495313;ENST00000372898|ENST00000320188	.|.|.	.|.|.	.|.|.	5.09|5.09|5.09	2.27|2.27|2.27	0.28462|0.28462|0.28462	.|.|.	.|.|0.513955	.|.|0.20516	.|.|N	.|.|0.090791	T|T|T	0.61362|0.61362|0.61362	0.2341|0.2341|0.2341	M|M|M	0.72118|0.72118|0.72118	2.19|2.19|2.19	0.26378|0.26378|0.26378	N|N|N	0.976786|0.976786|0.976786	.|.|D	.|.|0.64830	.|.|0.994	.|.|D	.|.|0.66497	.|.|0.944	T|T|T	0.53215|0.53215|0.53215	-0.8470|-0.8470|-0.8470	5|5|9	.|.|0.72032	.|.|D	.|.|0.01	.|.|.	8.1822|8.1822|8.1822	0.31317|0.31317|0.31317	0.2489:0.0:0.7511:0.0|0.2489:0.0:0.7511:0.0|0.2489:0.0:0.7511:0.0	.|.|.	.|.|206	.|.|Q1ZZU3	.|.|SWI5_HUMAN	Y|I|M	133|119;115|206	.|.|.	.|.|ENSP00000316609:V206M	C|M|V	+|+|+	2|3|1	0|0|0	SWI5|SWI5|SWI5	130088106|130088106|130088106	0.259000|0.259000|0.259000	0.24043|0.24043|0.24043	0.511000|0.511000|0.511000	0.27724|0.27724|0.27724	0.970000|0.970000|0.970000	0.65996|0.65996|0.65996	0.682000|0.682000|0.682000	0.25335|0.25335|0.25335	0.190000|0.190000|0.190000	0.20209|0.20209|0.20209	-0.339000|-0.339000|-0.339000	0.08088|0.08088|0.08088	TGT|ATG|GTG		0.532	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		A	131048285	G	A	131048285	3	1	344	1	0	0	0	0	1	0	0	0	2452	1377	48	2	630	2	C9orf119	9	131048285	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	11587550	131048285	10165146	44	18647											
STOX1	219736	genome.wustl.edu	37	10	70645163	70645163	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr10:70645163G>T	ENST00000298596.6	+	3	1694	c.1611G>T	c.(1609-1611)ttG>ttT	p.L537F	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.L427F|STOX1_ENST00000399169.4_Missense_Mutation_p.L537F	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	537						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTAGGTCCTTGGATTCCTCAA	0.418																																																0			10											61	56	57					10																	70645163		1850	4090	5940	70315169	SO:0001583	missense	219736			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1611G>T	10.37:g.70645163G>T	ENSP00000298596:p.Leu537Phe		70315169	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518148	0.27211	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.76709	-1.04;-1.04;-0.71	5.76	-2.06	0.07298	.	0.638908	0.14413	N	0.321176	T	0.71600	0.3359	L	0.59436	1.845	0.24630	N	0.993626	D	0.55605	0.972	P	0.51415	0.669	T	0.62243	-0.6895	10	0.19147	T	0.46	.	2.5689	0.04790	0.4031:0.108:0.3785:0.1105	.	537	Q6ZVD7	STOX1_HUMAN	F	537;537;427	ENSP00000382121:L537F;ENSP00000298596:L537F;ENSP00000394509:L427F	ENSP00000298596:L537F	L	+	3	2	STOX1	70315169	0.999000	0.42202	0.000000	0.03702	0.865000	0.49528	0.743000	0.26231	-0.747000	0.04759	0.591000	0.81541	TTG		0.418	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		T	70645163	G	T	70645163	3	4	344	1	0	0	0	0	1	0	0	0	15321	1339	47	3	1621	3	STOX1	10	70645163	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09		70645163	64889584	45	18648											
FAM35A	54537	genome.wustl.edu	37	10	88912061	88912061	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr10:88912061G>T	ENST00000298784.1	+	3	1064	c.950G>T	c.(949-951)tGt>tTt	p.C317F	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.C317F	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	317										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGTCCTGTTTGTCCTAAAACA	0.368																																					Ovarian(175;703 2004 25460 32514 43441)											0			10											4	5	4					10																	88912061		1583	3358	4941	88902041	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.950G>T	10.37:g.88912061G>T	ENSP00000298784:p.Cys317Phe		88902041	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.249480	0.00268	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.23147	1.92;1.92;1.92	4.09	-2.93	0.05598	.	0.363369	0.22473	N	0.059596	T	0.19565	0.0470	M	0.71581	2.175	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24764	-1.0151	10	0.66056	D	0.02	-0.2041	0.9182	0.01309	0.2226:0.1184:0.2957:0.3632	.	317	Q86V20	FA35A_HUMAN	F	317	ENSP00000298786:C317F;ENSP00000298784:C317F;ENSP00000351064:C317F	ENSP00000298784:C317F	C	+	2	0	FAM35A	88902041	0.062000	0.20869	0.008000	0.14137	0.292000	0.27327	0.227000	0.17795	-0.949000	0.03663	-0.415000	0.06103	TGT		0.368	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		T	88912061	G	T	88912061	3	4	344	1	0	0	0	0	1	0	0	0	5553	1377	48	3	952	3	FAM35A	10	88912061	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	18266898	88912061	46622686	46	18649											
SORCS3	22986	genome.wustl.edu	37	10	106602561	106602561	+	Missense_Mutation	SNP	C	C	G	rs267602355		TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr10:106602561C>G	ENST00000369701.3	+	2	866	c.639C>G	c.(637-639)atC>atG	p.I213M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	213					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCATACTTATCCTGACGAAGC	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)											0			10											96	88	91					10																	106602561		2203	4300	6503	106592551	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.639C>G	10.37:g.106602561C>G	ENSP00000358715:p.Ile213Met		106592551	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762182	0.49468	.	.	ENSG00000156395	ENST00000369701	T	0.37411	1.2	5.78	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	N	0.20685	0.6	0.32614	N	0.524191	P	0.41710	0.76	P	0.45232	0.474	T	0.32188	-0.9916	10	0.62326	D	0.03	.	2.2606	0.04066	0.291:0.4831:0.0:0.2259	.	213	Q9UPU3	SORC3_HUMAN	M	213	ENSP00000358715:I213M	ENSP00000358715:I213M	I	+	3	3	SORCS3	106592551	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.258000	0.43249	1.422000	0.47177	-0.311000	0.09066	ATC		0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		G	106602561	C	G	106602561	3	3	344	1	0	0	0	0	1	0	0	0	14935	845	30	3	645	3	SORCS3	10	106602561	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	17690500	106602561	28932186	47	18650											
UEVLD	55293	genome.wustl.edu	37	11	18586529	18586529	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr11:18586529C>G	ENST00000541984.1	-	4	284	c.222G>C	c.(220-222)tgG>tgC	p.W74C	UEVLD_ENST00000320750.6_Missense_Mutation_p.W152C|UEVLD_ENST00000396197.3_Missense_Mutation_p.W174C|UEVLD_ENST00000379387.4_Missense_Mutation_p.W152C|UEVLD_ENST00000300038.7_Missense_Mutation_p.W174C|UEVLD_ENST00000543987.1_Missense_Mutation_p.W174C|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Missense_Mutation_p.W136C	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CATGATTTGCCCAGCTCTTTG	0.323																																																0			11											137	118	124					11																	18586529		2199	4293	6492	18543105	SO:0001583	missense	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.222G>C	11.37:g.18586529C>G	ENSP00000437538:p.Trp74Cys		18543105		Missense_Mutation	SNP	ENST00000541984.1	37	CCDS58125.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285844	0.40394	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000541984;ENST00000300038	D;D;T;D;T;T	0.82433	-1.61;-1.61;-0.75;-1.6;-0.74;-1.1	5.19	4.27	0.50696	NAD(P)-binding domain (1);	0.348836	0.33180	N	0.005197	T	0.79902	0.4526	L	0.47716	1.5	0.46631	D	0.999131	D;P;B;P;P	0.63046	0.992;0.761;0.001;0.846;0.556	P;B;B;B;B	0.49502	0.613;0.221;0.005;0.394;0.221	T	0.79155	-0.1920	10	0.51188	T	0.08	-4.4	6.7387	0.23422	0.1805:0.7249:0.0:0.0945	.	174;152;152;174;174	Q8IX04-5;B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;.;UEVLD_HUMAN	C	174;136;174;152;152;74;174	ENSP00000442974:W174C;ENSP00000441092:W136C;ENSP00000379500:W174C;ENSP00000323353:W152C;ENSP00000368697:W152C;ENSP00000437538:W74C	ENSP00000300038:W174C	W	-	3	0	UEVLD	18543105	0.974000	0.33945	1.000000	0.80357	0.971000	0.66376	1.468000	0.35332	1.474000	0.48178	0.650000	0.86243	TGG		0.323	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314		G	18586529	C	G	18586529	3	3	344	1	0	0	0	0	1	0	0	0	16933	624	22	3	921	3	UEVLD	11	18586529	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09		18586529	116419987	48	18651											
OR4C16	219428	genome.wustl.edu	37	11	55339962	55339962	+	Missense_Mutation	SNP	G	G	A	rs141382229	byFrequency	TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr11:55339962G>A	ENST00000314634.3	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCTGTTGACCGCTATGTGGAC	0.512													g|||	3	0.000599042	8e-04	0.0014	5008	,	,		19430	0		0	False		,,,				2504	0.001															0			11						G	HIS/ARG	4,4398	8.1+/-20.4	0,4,2197	190	181	184		359	4.1	1	11	dbSNP_134	184	5,8587	4.3+/-15.6	0,5,4291	yes	missense	OR4C16	NM_001004701.2	29	0,9,6488	AA,AG,GG		0.0582,0.0909,0.0693	possibly-damaging	120/311	55339962	9,12985	2201	4296	6497	55096538	SO:0001583	missense	219428			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.359G>A	11.37:g.55339962G>A	ENSP00000324913:p.Arg120His		55096538	Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247781	0.59103	9.09E-4	5.82E-4	ENSG00000181935	ENST00000314634	T	0.77489	-1.1	4.98	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.79936	0.4532	M	0.88906	2.99	0.33543	D	0.595121	B	0.19445	0.036	B	0.18561	0.022	T	0.83330	-0.0013	10	0.59425	D	0.04	.	11.2843	0.49214	0.0892:0.0:0.9108:0.0	.	120	Q8NGL9	OR4CG_HUMAN	H	120	ENSP00000324913:R120H	ENSP00000324913:R120H	R	+	2	0	OR4C16	55096538	0.994000	0.37717	1.000000	0.80357	0.958000	0.62258	3.443000	0.52907	1.331000	0.45412	0.549000	0.68633	CGC		0.512	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		A	55339962	G	A	55339962	3	1	344	1	0	0	0	0	1	0	0	0	11049	1087	38	1	361	1	OR4C16	11	55339962	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	36753433	55339962	79666554	49	18652											
TPCN2	219931	genome.wustl.edu	37	11	68822261	68822261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr11:68822261C>T	ENST00000294309.3	+	3	348	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	TPCN2_ENST00000542467.1_Nonsense_Mutation_p.Q83*	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	83					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAACGTATGCCAACGGTGAGA	0.597																																																0			11											114	77	89					11																	68822261		2200	4294	6494	68578837	SO:0001587	stop_gained	219931			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.247C>T	11.37:g.68822261C>T	ENSP00000294309:p.Gln83*		68578837	Q9NT82	Nonsense_Mutation	SNP	ENST00000294309.3	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240729	0.79912	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-16.3536	17.4898	0.87700	0.0:1.0:0.0:0.0	.	.	.	.	X	13;83;83	.	ENSP00000294309:Q83X	Q	+	1	0	TPCN2	68578837	1.000000	0.71417	0.999000	0.59377	0.298000	0.27526	6.247000	0.72411	2.299000	0.77371	0.462000	0.41574	CAA		0.597	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		T	68822261	C	T	68822261	4	4	344	1	0	0	0	0	0	1	0	0	16396	595	21	2	257	2	TPCN2	11	68822261	Nonsense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	13482299	68822261	66184255	50	18653											
RPS3	6188	genome.wustl.edu	37	11	75111826	75111826	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr11:75111826G>A	ENST00000531188.1	+	2	181	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	RPS3_ENST00000278572.6_Missense_Mutation_p.R40Q|SNORD15A_ENST00000384214.1_RNA|RPS3_ENST00000524851.1_Missense_Mutation_p.R40Q|RPS3_ENST00000530164.1_Missense_Mutation_p.R40Q|RPS3_ENST00000534440.1_Missense_Mutation_p.R40Q|RPS3_ENST00000526608.1_Missense_Mutation_p.R40Q|RPS3_ENST00000527446.1_Missense_Mutation_p.R40Q|RPS3_ENST00000529285.1_3'UTR	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	40	KH type-2. {ECO:0000255|PROSITE- ProRule:PRU00118}.				cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTTGAGGTGCGAGTTACACCA	0.418																																																0			11											102	96	98					11																	75111826		2200	4293	6493	74789474	SO:0001583	missense	6188				CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"S ribosomal proteins"	10420	protein-coding gene	gene with protein product	"IMR-90 ribosomal protein S3", "40S ribosomal protein S3"	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.119G>A	11.37:g.75111826G>A	ENSP00000434643:p.Arg40Gln		74789474	B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	CCDS8236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.45|16.45	3.125576|3.125576	0.56721|0.56721	.|.	.|.	ENSG00000149273|ENSG00000149273	ENST00000525933|ENST00000531188;ENST00000530164;ENST00000530689;ENST00000278572;ENST00000534440;ENST00000527446;ENST00000526608;ENST00000527273;ENST00000524851	.|.	.|.	.|.	5.73|5.73	4.8|4.8	0.61643|0.61643	.|K homology domain-like, alpha/beta (1);K Homology, prokaryotic type (1);K Homology, type 2 (1);	.|0.174068	.|0.51477	.|N	.|0.000099	T|T	0.68787|0.68787	0.3039|0.3039	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.21708	.|0.036	T|T	0.68500|0.68500	-0.5392|-0.5392	5|9	.|0.66056	.|D	.|0.02	-0.0253|-0.0253	13.7489|13.7489	0.62894|0.62894	0.0:0.0:0.8452:0.1548|0.0:0.0:0.8452:0.1548	.|.	.|40	.|P23396	.|RS3_HUMAN	K|Q	31|40	.|.	.|ENSP00000278572:R40Q	E|R	+|+	1|2	0|0	RPS3|RPS3	74789474|74789474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.238000|0.238000	0.25445|0.25445	9.713000|9.713000	0.98740|0.98740	1.379000|1.379000	0.46325|0.46325	0.557000|0.557000	0.71058|0.71058	GAG|CGA		0.418	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		A	75111826	G	A	75111826	3	1	344	1	0	0	0	0	1	0	0	0	13646	1058	37	1	125	1	RPS3	11	75111826	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	6289565	75111826	59894690	51	18654											
GPR83	10888	genome.wustl.edu	37	11	94134396	94134396	+	Silent	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr11:94134396C>T	ENST00000243673.2	-	1	189	c.18G>A	c.(16-18)ttG>ttA	p.L6L	GPR83_ENST00000539203.2_Silent_p.L6L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	6					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GACAGAGCAGCAAGAGGTGAG	0.746																																																0			11											19	20	20					11																	94134396		2197	4281	6478	93774044	SO:0001819	synonymous_variant	10888			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.18G>A	11.37:g.94134396C>T			93774044	B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	CCDS8297.1																																																																																				0.746	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		T	94134396	C	T	94134396	2	4	344	1	0	0	0	0	0	0	0	1	6713	709	25	2		2	GPR83	11	94134396	Silent	SNP	C	TCGA-29-1769-01A-01W-0639-09	19022570	94134396	40872120	52	18655											
PRB2	653247	genome.wustl.edu	37	12	11546281	11546281	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr12:11546281C>T	ENST00000389362.4	-	3	766	c.731G>A	c.(730-732)gGa>gAa	p.G244E	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	244	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.602																																																0			12											165	188	180					12																	11546281		2201	4293	6494	11437548	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.731G>A	12.37:g.11546281C>T	ENSP00000374013:p.Gly244Glu		11437548	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	5.489	0.275179	0.10403	.	.	ENSG00000121335	ENST00000389362	T	0.10382	2.88	1.4	1.4	0.22301	.	.	.	.	.	T	0.12561	0.0305	M	0.75615	2.305	0.09310	N	1	B	0.23540	0.087	B	0.14023	0.01	T	0.21314	-1.0249	9	0.52906	T	0.07	.	5.2685	0.15613	0.3362:0.6638:0.0:0.0	.	244	P02812	PRB2_HUMAN	E	244	ENSP00000374013:G244E	ENSP00000374013:G244E	G	-	2	0	PRB2	11437548	0.002000	0.14202	0.003000	0.11579	0.028000	0.11728	0.628000	0.24522	0.679000	0.31345	0.418000	0.28097	GGA		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546281	C	T	11546281	3	4	344	1	0	0	0	0	1	0	0	0	12446	855	30	2	523	2	PRB2	12	11546281	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09		11546281	122305614	53	18656											
SCN8A	6334	genome.wustl.edu	37	12	52093464	52093464	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr12:52093464T>C	ENST00000354534.6	+	7	995	c.817T>C	c.(817-819)Ttc>Ctc	p.F273L	SCN8A_ENST00000550891.1_Missense_Mutation_p.F273L|SCN8A_ENST00000545061.1_Missense_Mutation_p.F273L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	273				F -> I (in Ref. 3; ACM63162). {ECO:0000305}.	adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACTGCAGCTGTTCATGGGGAA	0.453																																																0			12											110	106	107					12																	52093464		2086	4254	6340	50379731	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.817T>C	12.37:g.52093464T>C	ENSP00000346534:p.Phe273Leu		50379731	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	T	32	5.168438	0.94768	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41;-5.41	4.47	4.47	0.54385	Ion transport (1);	0.112355	0.64402	D	0.000009	D	0.99510	0.9825	H	0.97587	4.035	0.80722	D	1	P;D;D;P	0.58268	0.954;0.982;0.971;0.826	D;D;P;P	0.66979	0.943;0.948;0.776;0.473	D	0.97971	1.0343	10	0.87932	D	0	.	14.2323	0.65901	0.0:0.0:0.0:1.0	.	273;273;273;273	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	L	273;273;273;273;186;71	ENSP00000448415:F273L;ENSP00000346534:F273L;ENSP00000440360:F273L;ENSP00000347255:F273L;ENSP00000447567:F71L	ENSP00000346534:F273L	F	+	1	0	SCN8A	50379731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.017000	0.59298	0.533000	0.62120	TTC		0.453	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		C	52093464	T	C	52093464	3	2	344	1	0	0	0	0	1	0	0	0	13927	1725	60	4	839	4	SCN8A	12	52093464	Missense_Mutation	SNP	T	TCGA-29-1769-01A-01W-0639-09	40547183	52093464	81758431	54	18657											
UTP20	27340	genome.wustl.edu	37	12	101723196	101723196	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr12:101723196C>A	ENST00000261637.4	+	27	3560	c.3386C>A	c.(3385-3387)aCc>aAc	p.T1129N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1129					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)			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						ATGACAGCAACCGTATCACAC	0.383																																																0			12											118	110	113					12																	101723196		2203	4300	6503	100247327	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.3386C>A	12.37:g.101723196C>A	ENSP00000261637:p.Thr1129Asn		100247327	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191231	0.21954	.	.	ENSG00000120800	ENST00000261637	T	0.17370	2.28	5.6	4.71	0.59529	Armadillo-type fold (1);	0.345297	0.34828	N	0.003659	T	0.13798	0.0334	L	0.47716	1.5	0.09310	N	1	P	0.37914	0.611	B	0.31946	0.138	T	0.15607	-1.0431	10	0.23302	T	0.38	-5.1307	11.7395	0.51784	0.0:0.8462:0.0:0.1538	.	1129	O75691	UTP20_HUMAN	N	1129	ENSP00000261637:T1129N	ENSP00000261637:T1129N	T	+	2	0	UTP20	100247327	0.734000	0.28142	0.013000	0.15412	0.059000	0.15707	3.873000	0.56093	1.499000	0.48617	0.591000	0.81541	ACC		0.383	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		A	101723196	C	A	101723196	3	1	344	1	0	0	0	0	1	0	0	0	17099	507	18	3	3492	3	UTP20	12	101723196	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	49629732	101723196	32128699	55	18658											
ACACB	32	genome.wustl.edu	37	12	109660704	109660704	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr12:109660704C>G	ENST00000338432.7	+	26	3898	c.3779C>G	c.(3778-3780)cCc>cGc	p.P1260R	ACACB_ENST00000377854.5_Missense_Mutation_p.P1190R|ACACB_ENST00000377848.3_Missense_Mutation_p.P1260R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1260					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CAGTTCTGCCCCGAGAACCTC	0.602																																																0			12											74	53	60					12																	109660704		2203	4300	6503	108145087	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3779C>G	12.37:g.109660704C>G	ENSP00000341044:p.Pro1260Arg		108145087	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424641	0.83667	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.41400	1.0;1.0;1.0	5.19	5.19	0.71726	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.80422	2.495	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.62402	-0.6862	10	0.21540	T	0.41	.	19.1223	0.93367	0.0:1.0:0.0:0.0	.	1260	O00763	ACACB_HUMAN	R	1260;1260;1190;491	ENSP00000341044:P1260R;ENSP00000367079:P1260R;ENSP00000367085:P1190R	ENSP00000341044:P1260R	P	+	2	0	ACACB	108145087	1.000000	0.71417	0.959000	0.39883	0.961000	0.63080	4.921000	0.63397	2.590000	0.87494	0.650000	0.86243	CCC		0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		G	109660704	C	G	109660704	3	3	344	1	0	0	0	0	1	0	0	0	107	623	22	3	3877	3	ACACB	12	109660704	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	7937508	109660704	24191191	56	18659											
RAP2A	5911	genome.wustl.edu	37	13	98086899	98086899	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr13:98086899G>C	ENST00000245304.4	+	1	424	c.175G>C	c.(175-177)Gcg>Ccg	p.A59P		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	59					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			CCTGGACACGGCGGGCACCGA	0.602																																																0			13											110	103	105					13																	98086899		2203	4300	6503	96884900	SO:0001583	missense	5911			AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.175G>C	13.37:g.98086899G>C	ENSP00000245304:p.Ala59Pro		96884900	B2RCJ1|Q5JSC1|Q5JSC2	Missense_Mutation	SNP	ENST00000245304.4	37	CCDS9485.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078873	0.94050	.	.	ENSG00000125249	ENST00000245304	D	0.88975	-2.45	3.05	3.05	0.35203	Small GTP-binding protein domain (1);	0.057614	0.64402	D	0.000002	D	0.95623	0.8577	H	0.94808	3.585	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.96903	0.9661	10	0.87932	D	0	.	14.5937	0.68389	0.0:0.0:1.0:0.0	.	59	P10114	RAP2A_HUMAN	P	59	ENSP00000245304:A59P	ENSP00000245304:A59P	A	+	1	0	RAP2A	96884900	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.359000	0.79477	1.732000	0.51606	0.484000	0.47621	GCG		0.602	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4			C	98086899	G	C	98086899	3	2	344	1	0	0	0	0	1	0	0	0	13043	1203	42	3	177	3	RAP2A	13	98086899	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09		98086899	17082979	57	18660											
PROZ	8858	genome.wustl.edu	37	13	113814408	113814408	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr13:113814408G>A	ENST00000375547.2	+	2	158	c.151G>A	c.(151-153)Gag>Aag	p.E51K	PROZ_ENST00000342783.4_Missense_Mutation_p.E73K	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	51	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.E51K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AGAACTCTTCGAGGGAAACTT	0.458																																																1	Substitution - Missense(1)	lung(1)	13											117	129	125					13																	113814408		2203	4300	6503	112862409	SO:0001583	missense	8858			M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.151G>A	13.37:g.113814408G>A	ENSP00000364697:p.Glu51Lys		112862409	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158379	0.01686	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.98937	-5.25;-5.25	4.0	-1.59	0.08453	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.805233	0.11334	U	0.574710	D	0.93559	0.7944	N	0.04063	-0.285	0.09310	N	0.999995	B;B	0.31611	0.331;0.046	B;B	0.28849	0.095;0.036	D	0.87994	0.2751	10	0.87932	D	0	.	10.9535	0.47343	0.0943:0.5134:0.3923:0.0	.	73;51	P22891-2;P22891	.;PROZ_HUMAN	K	51;73	ENSP00000364697:E51K;ENSP00000344458:E73K	ENSP00000344458:E73K	E	+	1	0	PROZ	112862409	0.001000	0.12720	0.063000	0.19743	0.356000	0.29392	-0.615000	0.05597	-0.278000	0.09180	0.313000	0.20887	GAG		0.458	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		A	113814408	G	A	113814408	3	1	344	1	0	0	0	0	1	0	0	0	12565	1059	37	1	157	1	PROZ	13	113814408	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	15727509	113814408	1355470	58	18661											
TNRC6A	27327	genome.wustl.edu	37	16	24817970	24817970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr16:24817970C>T	ENST00000395799.3	+	17	4534	c.4405C>T	c.(4405-4407)Cag>Tag	p.Q1469*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q1420*|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_5'Flank	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1469					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGTGAAGCAGCAGACTCCACC	0.483																																																0			16											142	123	129					16																	24817970		2197	4300	6497	24725471	SO:0001587	stop_gained	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4405C>T	16.37:g.24817970C>T	ENSP00000379144:p.Gln1469*		24725471	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.703484|11.703484	0.99593|0.99593	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.124624	.|0.56097	.|D	.|0.000040	T|.	0.57695|.	0.2071|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.46219|.	-0.9207|.	4|.	.|0.15952	.|T	.|0.53	0.5319|0.5319	15.581|15.581	0.76439|0.76439	0.1377:0.8623:0.0:0.0|0.1377:0.8623:0.0:0.0	.|.	.|.	.|.	.|.	V|X	359|1420;1469	.|.	.|ENSP00000326900:Q1420X	A|Q	+|+	2|1	0|0	TNRC6A|TNRC6A	24725471|24725471	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.998000|0.998000	0.95712|0.95712	3.274000|3.274000	0.51631|0.51631	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.483	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		T	24817970	C	T	24817970	4	4	344	1	0	0	0	0	0	1	0	0	16340	711	25	2	4471	2	TNRC6A	16	24817970	Nonsense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09		24817970	65536783	59	18662											
HSF4	3299	genome.wustl.edu	37	16	67201032	67201032	+	Missense_Mutation	SNP	G	G	T	rs199742128	byFrequency	TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr16:67201032G>T	ENST00000521374.1	+	7	636	c.636G>T	c.(634-636)atG>atT	p.M212I	HSF4_ENST00000584272.1_Missense_Mutation_p.M212I|HSF4_ENST00000421453.1_Missense_Mutation_p.M212I|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000264009.8_Missense_Mutation_p.M212I			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	212					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGTCCCTGATGCTGGATGAGG	0.637																																																0			16						G	ILE/MET,ILE/MET	4,4178		0,4,2087	118	129	126		636,636	4.6	1	16		126	28,8420		1,26,4197	yes	missense,missense	HSF4	NM_001040667.2,NM_001538.3	10,10	1,30,6284	TT,TG,GG		0.3314,0.0956,0.2534	possibly-damaging,possibly-damaging	212/493,212/463	67201032	32,12598	2091	4224	6315	65758533	SO:0001583	missense	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.636G>T	16.37:g.67201032G>T	ENSP00000430947:p.Met212Ile		65758533	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642196	0.47153	9.56E-4	0.003314	ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729	.	.	.	4.58	4.58	0.56647	.	0.042575	0.85682	D	0.000000	T	0.73984	0.3657	M	0.64567	1.98	0.49389	D	0.999789	P;P	0.50528	0.898;0.936	P;P	0.61201	0.626;0.885	T	0.76130	-0.3072	9	0.56958	D	0.05	-8.1501	14.9087	0.70740	0.0:0.0:1.0:0.0	.	212;212	Q9ULV5-2;Q9ULV5	.;HSF4_HUMAN	I	212;212;212;212;149	.	ENSP00000264009:M212I	M	+	3	0	HSF4	65758533	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.749000	0.62155	2.348000	0.79779	0.563000	0.77884	ATG		0.637	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		T	67201032	G	T	67201032	3	4	344	1	0	0	0	0	1	0	0	0	7398	1319	46	3	662	3	HSF4	16	67201032	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	42383062	67201032	23153721	60	18663											
ADAMTS18	170692	genome.wustl.edu	37	16	77465492	77465492	+	Silent	SNP	C	C	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr16:77465492C>A	ENST00000282849.5	-	3	613	c.195G>T	c.(193-195)acG>acT	p.T65T	ADAMTS18_ENST00000567121.1_5'UTR|RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	65					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTACTGGCGTGACAAAGA	0.498																																																0			16											149	154	152					16																	77465492		2198	4300	6498	76022993	SO:0001819	synonymous_variant	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.195G>T	16.37:g.77465492C>A			76022993	Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	CCDS10926.1																																																																																				0.498	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			A	77465492	C	A	77465492	2	1	344	1	0	0	0	0	0	0	0	1	263	755	27	3		3	ADAMTS18	16	77465492	Silent	SNP	C	TCGA-29-1769-01A-01W-0639-09	10264460	77465492	12889261	61	18664											
ARRB2	409	genome.wustl.edu	37	17	4623693	4623693	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr17:4623693T>C	ENST00000269260.2	+	13	1240	c.1007T>C	c.(1006-1008)gTc>gCc	p.V336A	ARRB2_ENST00000381488.6_Missense_Mutation_p.V321A|ARRB2_ENST00000412477.3_Missense_Mutation_p.V357A|ARRB2_ENST00000574954.1_Missense_Mutation_p.V144A|ARRB2_ENST00000572457.1_Missense_Mutation_p.V144A|ARRB2_ENST00000571206.1_Missense_Mutation_p.V144A|ARRB2_ENST00000575877.1_Silent_p.C292C|ARRB2_ENST00000346341.2_Missense_Mutation_p.V321A	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	336	Interaction with TRAF6.				adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCAGGGATGTCTCTGTGGAG	0.622																																																0			17											139	132	134					17																	4623693		2203	4300	6503	4570442	SO:0001583	missense	409				CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.1007T>C	17.37:g.4623693T>C	ENSP00000269260:p.Val336Ala		4570442	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044499	0.75732	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.20598	2.06;2.06	4.57	4.57	0.56435	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.85542	2.76	0.58432	D	0.999999	B;D;D;D;D	0.89917	0.091;0.958;0.976;1.0;0.966	B;P;D;D;D	0.87578	0.158;0.789;0.915;0.998;0.925	T	0.54741	-0.8248	10	0.56958	D	0.05	-19.7381	12.1912	0.54273	0.0:0.0:0.0:1.0	.	357;321;336;321;336	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	A	336;336;321;337	ENSP00000269260:V336A;ENSP00000341895:V321A	ENSP00000269260:V336A	V	+	2	0	ARRB2	4570442	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.927000	0.70080	1.829000	0.53265	0.247000	0.18012	GTC		0.622	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		C	4623693	T	C	4623693	3	2	344	1	0	0	0	0	1	0	0	0	981	1667	58	4	1057	4	ARRB2	17	4623693	Missense_Mutation	SNP	T	TCGA-29-1769-01A-01W-0639-09		4623693	76571517	62	18665											
TRPV2	51393	genome.wustl.edu	37	17	16336922	16336922	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr17:16336922A>T	ENST00000338560.7	+	13	2423	c.2024A>T	c.(2023-2025)tAt>tTt	p.Y675F	TRPV2_ENST00000577397.1_Missense_Mutation_p.Y245F	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	675					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGAATGGCTATTGGTGGTGC	0.582																																																0			17											147	129	135					17																	16336922		2203	4300	6503	16277647	SO:0001583	missense	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2024A>T	17.37:g.16336922A>T	ENSP00000342222:p.Tyr675Phe		16277647	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.558479	0.27827	.	.	ENSG00000187688	ENST00000338560	D	0.89415	-2.51	5.79	5.79	0.91817	.	0.374704	0.30791	N	0.008872	T	0.76962	0.4061	N	0.10874	0.06	0.31501	N	0.664811	B	0.06786	0.001	B	0.10450	0.005	T	0.67658	-0.5614	10	0.07325	T	0.83	-34.4913	14.0861	0.64957	1.0:0.0:0.0:0.0	.	675	Q9Y5S1	TRPV2_HUMAN	F	675	ENSP00000342222:Y675F	ENSP00000342222:Y675F	Y	+	2	0	TRPV2	16277647	0.017000	0.18338	0.995000	0.50966	0.334000	0.28698	0.936000	0.28938	2.220000	0.72140	0.528000	0.53228	TAT		0.582	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		T	16336922	A	T	16336922	3	4	344	1	0	0	0	0	1	0	0	0	16596	449	16	5	2070	5	TRPV2	17	16336922	Missense_Mutation	SNP	A	TCGA-29-1769-01A-01W-0639-09	11713229	16336922	64858288	63	18666											
B4GALNT2	124872	genome.wustl.edu	37	17	47246998	47246998	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr17:47246998A>T	ENST00000300404.2	+	11	1668	c.1609A>T	c.(1609-1611)Acc>Tcc	p.T537S	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.T477S|RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.T451S	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	537					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCTAGAGAAGACCTACAATAC	0.547																																					GBM(124;244 1635 8663 18097 33175)											0			17											96	85	89					17																	47246998		2203	4300	6503	44601997	SO:0001583	missense	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1609A>T	17.37:g.47246998A>T	ENSP00000300404:p.Thr537Ser		44601997	B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.314743	0.40996	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.21543	2.0;2.0;2.0	5.79	2.25	0.28309	.	1.144480	0.06412	N	0.720864	T	0.18215	0.0437	L	0.40543	1.245	0.09310	N	0.999999	B;B	0.16396	0.01;0.017	B;B	0.14578	0.011;0.006	T	0.36237	-0.9756	10	0.16896	T	0.51	2.2198	9.5147	0.39098	0.7849:0.0:0.2151:0.0	.	477;537	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	S	451;477;537	ENSP00000425510:T451S;ENSP00000377022:T477S;ENSP00000300404:T537S	ENSP00000300404:T537S	T	+	1	0	B4GALNT2	44601997	0.001000	0.12720	0.265000	0.24526	0.106000	0.19336	0.317000	0.19487	0.434000	0.26340	0.459000	0.35465	ACC		0.547	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		T	47246998	A	T	47246998	3	4	344	1	0	0	0	0	1	0	0	0	1267	275	10	5	1669	5	B4GALNT2	17	47246998	Missense_Mutation	SNP	A	TCGA-29-1769-01A-01W-0639-09	30910076	47246998	33948212	64	18667											
ASXL3	80816	genome.wustl.edu	37	18	31226240	31226240	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr18:31226240C>T	ENST00000269197.5	+	4	278	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGATGGCACGTTGGATTTA	0.378																																																0			18											130	127	128					18																	31226240		1963	4161	6124	29480238	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.278C>T	18.37:g.31226240C>T	ENSP00000269197:p.Thr93Met		29480238	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902154	0.72754	.	.	ENSG00000141431	ENST00000269197	T	0.15834	2.39	5.47	4.6	0.57074	.	.	.	.	.	T	0.15782	0.0380	L	0.36672	1.1	0.31758	N	0.633758	B	0.27351	0.176	B	0.18561	0.022	T	0.06862	-1.0803	9	0.66056	D	0.02	.	14.6633	0.68888	0.0:0.9294:0.0:0.0706	.	93	Q9C0F0	ASXL3_HUMAN	M	93	ENSP00000269197:T93M	ENSP00000269197:T93M	T	+	2	0	ASXL3	29480238	0.991000	0.36638	0.107000	0.21349	0.992000	0.81027	3.060000	0.49955	1.443000	0.47586	0.555000	0.69702	ACG		0.378	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31226240	C	T	31226240	3	4	344	1	0	0	0	0	1	0	0	0	1068	536	19	1	292	1	ASXL3	18	31226240	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09		31226240	46851008	65	18668											
SETBP1	26040	genome.wustl.edu	37	18	42643139	42643139	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr18:42643139A>T	ENST00000282030.5	+	6	4563	c.4267A>T	c.(4267-4269)Acc>Tcc	p.T1423S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1423						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATCCTGTCCACCAAGAAGAA	0.557									Schinzel-Giedion syndrome																																							0			18											55	52	53					18																	42643139		2203	4300	6503	40897137	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4267A>T	18.37:g.42643139A>T	ENSP00000282030:p.Thr1423Ser		40897137	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566945	0.86439	.	.	ENSG00000152217	ENST00000282030	T	0.72942	-0.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	N	0.19112	0.55	0.38490	D	0.947948	D	0.67145	0.996	D	0.77557	0.99	T	0.79045	-0.1964	10	0.56958	D	0.05	.	15.1602	0.72778	1.0:0.0:0.0:0.0	.	1423	Q9Y6X0	SETBP_HUMAN	S	1423	ENSP00000282030:T1423S	ENSP00000282030:T1423S	T	+	1	0	SETBP1	40897137	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.760000	0.68793	2.113000	0.64589	0.460000	0.39030	ACC		0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		T	42643139	A	T	42643139	3	4	344	1	0	0	0	0	1	0	0	0	14132	159	6	5	4478	5	SETBP1	18	42643139	Missense_Mutation	SNP	A	TCGA-29-1769-01A-01W-0639-09	11416899	42643139	35434109	66	18669											
CD37	951	genome.wustl.edu	37	19	49839021	49839021	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr19:49839021G>C	ENST00000323906.4	+	2	261	c.120G>C	c.(118-120)aaG>aaC	p.K40N	CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_5'UTR|CD37_ENST00000598095.1_5'UTR|CD37_ENST00000535669.2_Missense_Mutation_p.K40N|CTC-301O7.4_ENST00000358234.4_lincRNA	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	40					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		TCATTGACAAGACCAGCTTCG	0.627																																																0			19											181	183	182					19																	49839021		2203	4300	6503	54530833	SO:0001583	missense	951				CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"CD molecules", "Tetraspanins"	1666	protein-coding gene	gene with protein product		151523	"CD37 antigen"			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.120G>C	19.37:g.49839021G>C	ENSP00000325708:p.Lys40Asn		54530833	B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345311	0.61073	.	.	ENSG00000104894	ENST00000391859;ENST00000323906;ENST00000535669	T;T;T	0.25250	2.24;1.82;1.81	4.71	3.67	0.42095	.	0.102103	0.41823	D	0.000804	T	0.37571	0.1008	L	0.45228	1.405	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.67382	0.951;0.951	T	0.10613	-1.0622	10	0.59425	D	0.04	.	9.1967	0.37233	0.1025:0.0:0.8975:0.0	.	40;40	B7ZAN3;P11049	.;CD37_HUMAN	N	40	ENSP00000375732:K40N;ENSP00000325708:K40N;ENSP00000441037:K40N	ENSP00000325708:K40N	K	+	3	2	CD37	54530833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.861000	0.39438	1.129000	0.42072	0.561000	0.74099	AAG		0.627	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			C	49839021	G	C	49839021	3	2	344	1	0	0	0	0	1	0	0	0	3008	933	33	3	126	3	CD37	19	49839021	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09		49839021	9289962	67	18670											
ZNF473	25888	genome.wustl.edu	37	19	50548163	50548163	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr19:50548163G>C	ENST00000595661.1	+	6	958	c.463G>C	c.(463-465)Gga>Cga	p.G155R	ZNF473_ENST00000391821.2_Missense_Mutation_p.G155R|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.G155R|ZNF473_ENST00000445728.3_Missense_Mutation_p.G143R			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	155					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ATTAAAGAGAGGACTCAGTCC	0.468																																																0			19											62	59	60					19																	50548163		2203	4300	6503	55239975	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.463G>C	19.37:g.50548163G>C	ENSP00000472808:p.Gly155Arg		55239975	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.733103	0.30684	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.10573	3.16;3.16;2.86	4.36	2.17	0.27698	.	1.138800	0.06669	N	0.765908	T	0.11793	0.0287	N	0.24115	0.695	0.09310	N	1	D	0.54047	0.964	P	0.53450	0.726	T	0.28933	-1.0028	10	0.22109	T	0.4	-3.2272	4.3067	0.10951	0.2012:0.1916:0.6071:0.0	.	155	Q8WTR7	ZN473_HUMAN	R	155;155;143	ENSP00000270617:G155R;ENSP00000375697:G155R;ENSP00000388961:G143R	ENSP00000270617:G155R	G	+	1	0	ZNF473	55239975	0.000000	0.05858	0.002000	0.10522	0.256000	0.26092	-0.138000	0.10374	0.745000	0.32763	0.655000	0.94253	GGA		0.468	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		C	50548163	G	C	50548163	3	2	344	1	0	0	0	0	1	0	0	0	17931	1001	35	3	477	3	ZNF473	19	50548163	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	709142	50548163	8580820	68	18671											
MYBPC2	4606	genome.wustl.edu	37	19	50939881	50939881	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr19:50939881C>A	ENST00000357701.5	+	5	404	c.353C>A	c.(352-354)aCc>aAc	p.T118N		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	118	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGGTGTACACCGTGGAGCTG	0.597																																																0			19											76	75	75					19																	50939881		1995	4155	6150	55631693	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.353C>A	19.37:g.50939881C>A	ENSP00000350332:p.Thr118Asn		55631693	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.060010	0.36373	.	.	ENSG00000086967	ENST00000357701	T	0.67345	-0.26	3.77	1.58	0.23477	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.222778	0.19718	U	0.107644	T	0.58047	0.2095	L	0.52823	1.66	0.32909	D	0.514205	B	0.17465	0.022	B	0.31245	0.126	T	0.58216	-0.7675	10	0.30854	T	0.27	.	5.7532	0.18158	0.3419:0.5579:0.0:0.1002	.	118	Q14324	MYPC2_HUMAN	N	118	ENSP00000350332:T118N	ENSP00000350332:T118N	T	+	2	0	MYBPC2	55631693	0.460000	0.25776	0.975000	0.42487	0.880000	0.50808	0.993000	0.29680	0.922000	0.37019	0.450000	0.29827	ACC		0.597	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		A	50939881	C	A	50939881	3	1	344	1	0	0	0	0	1	0	0	0	10012	507	18	3	371	3	MYBPC2	19	50939881	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09	391718	50939881	8189102	69	18672											
NLRP7	199713	genome.wustl.edu	37	19	55445073	55445073	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr19:55445073T>C	ENST00000590030.1	-	7	2546	c.2506A>G	c.(2506-2508)Aag>Gag	p.K836E	NLRP7_ENST00000588756.1_Missense_Mutation_p.K836E|NLRP7_ENST00000340844.2_Missense_Mutation_p.K836E|NLRP7_ENST00000448121.2_Missense_Mutation_p.K808E|NLRP7_ENST00000446217.1_Missense_Mutation_p.K864E|NLRP7_ENST00000592784.1_Missense_Mutation_p.K836E|NLRP7_ENST00000328092.5_Missense_Mutation_p.K808E			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	836							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCAAGGTCCTTGCAACTGGCT	0.478																																																0			19											103	97	99					19																	55445073		2203	4300	6503	60136885	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2506A>G	19.37:g.55445073T>C	ENSP00000465520:p.Lys836Glu		60136885	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	1.352	-0.591133	0.03799	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.65364	-0.15;0.64;0.64;2.3	2.25	0.0821	0.14427	.	.	.	.	.	T	0.54319	0.1851	N	0.17922	0.545	0.09310	N	1	P;P;P;D	0.62365	0.489;0.951;0.788;0.991	B;P;P;D	0.64237	0.334;0.808;0.722;0.923	T	0.46762	-0.9168	9	0.13470	T	0.59	.	4.5286	0.11994	0.0:0.3265:0.0:0.6735	.	864;836;836;808	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	E	836;808;836;864;603	ENSP00000329568:K836E;ENSP00000409137:K808E;ENSP00000339491:K836E;ENSP00000414273:K864E	ENSP00000329568:K836E	K	-	1	0	NLRP7	60136885	0.000000	0.05858	0.051000	0.19133	0.056000	0.15407	-1.147000	0.03188	-0.048000	0.13401	0.454000	0.30748	AAG		0.478	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		C	55445073	T	C	55445073	3	2	344	1	0	0	0	0	1	0	0	0	10482	1821	63	4	623	4	NLRP7	19	55445073	Missense_Mutation	SNP	T	TCGA-29-1769-01A-01W-0639-09	4505192	55445073	3683910	70	18673											
RIN2	54453	genome.wustl.edu	37	20	19956238	19956238	+	Silent	SNP	G	G	A			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr20:19956238G>A	ENST00000255006.6	+	8	1865	c.1716G>A	c.(1714-1716)cgG>cgA	p.R572R	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	523					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGCTTTCCCGGGACAAATGCA	0.597																																																0			20											73	79	77					20																	19956238		2051	4198	6249	19904238	SO:0001819	synonymous_variant	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1716G>A	20.37:g.19956238G>A			19904238	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	CCDS56182.1																																																																																				0.597	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			A	19956238	G	A	19956238	2	1	344	1	0	0	0	0	0	0	0	1	13375	1219	43	2		2	RIN2	20	19956238	Silent	SNP	G	TCGA-29-1769-01A-01W-0639-09		19956238	43069282	71	18674											
ROMO1	140823	genome.wustl.edu	37	20	34287667	34287667	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chr20:34287667G>C	ENST00000374078.1	+	2	293	c.113G>C	c.(112-114)gGc>gCc	p.G38A	ROMO1_ENST00000374072.1_Missense_Mutation_p.G38A|NFS1_ENST00000540053.1_5'Flank|NFS1_ENST00000397425.1_5'Flank|NFS1_ENST00000374085.1_5'Flank|NFS1_ENST00000374092.4_5'Flank|NFS1_ENST00000541387.1_5'Flank|ROMO1_ENST00000336695.4_Missense_Mutation_p.G38A|NFS1_ENST00000306750.3_5'Flank|ROMO1_ENST00000397416.1_Missense_Mutation_p.G38A|ROMO1_ENST00000374077.3_Missense_Mutation_p.G38A	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	38					cellular response to reactive oxygen species (GO:0034614)|defense response to bacterium (GO:0042742)|positive regulation of cell proliferation (GO:0008284)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|replicative cell aging (GO:0001302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				cervix(1)	1						GCGCTCTTCGGCACCTTTTCC	0.657											OREG0004048	type=REGULATORY REGION|Gene=NFS1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			20											80	85	84					20																	34287667		2203	4300	6503	33751081	SO:0001583	missense	140823			AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995			16185	protein-coding gene	gene with protein product	"mitochondrial targeting GXXXG protein"		"chromosome 20 open reading frame 52"	C20orf52		18313394, 17537404, 16842742	Standard	NM_080748		Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.113G>C	20.37:g.34287667G>C	ENSP00000363191:p.Gly38Ala	846	33751081	A7M872|E1P5R9|E9KL28|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	Missense_Mutation	SNP	ENST00000374078.1	37	CCDS13264.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543105	0.96474	.	.	ENSG00000125995	ENST00000374078;ENST00000374077;ENST00000374072;ENST00000397416;ENST00000336695	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	.	.	.	0.80722	D	1	P	0.51240	0.943	P	0.51385	0.668	T	0.78137	-0.2321	9	0.66056	D	0.02	.	18.9826	0.92760	0.0:0.0:1.0:0.0	.	38	P60602	ROMO1_HUMAN	A	38	ENSP00000363191:G38A;ENSP00000363190:G38A;ENSP00000363185:G38A;ENSP00000380561:G38A;ENSP00000338293:G38A	ENSP00000338293:G38A	G	+	2	0	ROMO1	33751081	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.337000	0.96545	2.712000	0.92718	0.591000	0.81541	GGC		0.657	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000126404.1	NM_080748		C	34287667	G	C	34287667	3	2	344	1	0	0	0	0	1	0	0	0	13525	1203	42	3	115	3	ROMO1	20	34287667	Missense_Mutation	SNP	G	TCGA-29-1769-01A-01W-0639-09	14331429	34287667	28737853	72	18675											
FAM120C	54954	genome.wustl.edu	37	X	54161319	54161319	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1769-01A-01W-0639-09	TCGA-29-1769-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6e3821b5-a446-4b2d-9ede-6be24af88e5e	093609c2-c2b8-41d0-85ac-c69048b9b06b	g.chrX:54161319C>G	ENST00000375180.2	-	7	1617	c.1561G>C	c.(1561-1563)Gac>Cac	p.D521H	FAM120C_ENST00000328235.4_Missense_Mutation_p.D521H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	521							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGGAAGAGTCTGGTCCCAAA	0.493																																																0			X											75	59	65					X																	54161319		2203	4300	6503	54178044	SO:0001583	missense	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1561G>C	X.37:g.54161319C>G	ENSP00000364324:p.Asp521His		54178044	B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521028	0.44866	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.45276	0.9;0.9	5.2	4.34	0.51931	.	0.231431	0.46442	D	0.000293	T	0.33818	0.0876	N	0.03608	-0.345	0.80722	D	1	D;P	0.60575	0.988;0.896	P;P	0.57244	0.816;0.537	T	0.37337	-0.9710	10	0.41790	T	0.15	-12.7224	12.3543	0.55165	0.0:0.9127:0.0:0.0873	.	521;521	F8W881;Q9NX05	.;F120C_HUMAN	H	521	ENSP00000364324:D521H;ENSP00000329896:D521H	ENSP00000329896:D521H	D	-	1	0	FAM120C	54178044	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.431000	0.34925	1.269000	0.44280	0.600000	0.82982	GAC		0.493	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		G	54161319	C	G	54161319	3	3	344	1	0	0	0	0	1	0	0	0	5418	913	32	3	1769	3	FAM120C	23	54161319	Missense_Mutation	SNP	C	TCGA-29-1769-01A-01W-0639-09		54161319	101109241	73	18676											
PADI4	23569	genome.wustl.edu	37	1	17664577	17664577	+	Silent	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:17664577G>A	ENST00000375448.4	+	5	479	c.453G>A	c.(451-453)ctG>ctA	p.L151L	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	151					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCATCCTGCTGGTGAACTGTG	0.537																																																0			1											129	110	116					1																	17664577		2203	4300	6503	17537164	SO:0001819	synonymous_variant	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.453G>A	1.37:g.17664577G>A			17537164	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	CCDS180.1																																																																																				0.537	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		A	17664577	G	A	17664577	2	1	345	1	0	0	0	0	0	0	0	1	11380	1335	47	2		2	PADI4	1	17664577	Silent	SNP	G	TCGA-29-1770-01A-01W-0633-09		17664577	231586044	1	18677											
MAP3K6	9064	genome.wustl.edu	37	1	27690832	27690832	+	Silent	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:27690832C>G	ENST00000493901.1	-	5	797	c.558G>C	c.(556-558)cgG>cgC	p.R186R	MAP3K6_ENST00000357582.2_Silent_p.R186R|MAP3K6_ENST00000374040.3_Silent_p.R178R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	186					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CACACAGCACCCGACCAGTGG	0.652																																																0			1											85	84	85					1																	27690832		2203	4300	6503	27563419	SO:0001819	synonymous_variant	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.558G>C	1.37:g.27690832C>G			27563419	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	CCDS299.1																																																																																				0.652	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		G	27690832	C	G	27690832	2	3	345	1	0	0	0	0	0	0	0	1	9254	610	22	3		3	MAP3K6	1	27690832	Silent	SNP	C	TCGA-29-1770-01A-01W-0633-09	10026255	27690832	221559789	2	18678											
CDCA8	55143	genome.wustl.edu	37	1	38166136	38166136	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:38166136G>T	ENST00000373055.1	+	5	639	c.366G>T	c.(364-366)atG>atT	p.M122I	CDCA8_ENST00000327331.2_Missense_Mutation_p.M122I	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	122	Required for interaction with SENP3.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TAGATGAAATGATAGTGGAAG	0.383																																																0			1											126	122	124					1																	38166136		2203	4300	6503	37938723	SO:0001583	missense	55143			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"borealin"	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.366G>T	1.37:g.38166136G>T	ENSP00000362146:p.Met122Ile		37938723	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	ENST00000373055.1	37	CCDS424.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403007	0.25291	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.39997	1.05;1.05	4.25	2.34	0.29019	.	0.574961	0.19242	N	0.119140	T	0.30479	0.0766	L	0.44542	1.39	0.24634	N	0.99361	B	0.06786	0.001	B	0.08055	0.003	T	0.17018	-1.0383	10	0.35671	T	0.21	-8.1141	6.3121	0.21171	0.1026:0.1845:0.7129:0.0	.	122	Q53HL2	BOREA_HUMAN	I	122	ENSP00000362146:M122I;ENSP00000316121:M122I	ENSP00000316121:M122I	M	+	3	0	CDCA8	37938723	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.824000	0.39072	0.530000	0.28619	-0.128000	0.14901	ATG		0.383	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		T	38166136	G	T	38166136	3	4	345	1	0	0	0	0	1	0	0	0	3092	1290	45	3	384	3	CDCA8	1	38166136	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	10475304	38166136	211084485	3	18679											
COL9A2	1298	genome.wustl.edu	37	1	40777211	40777211	+	Silent	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:40777211C>A	ENST00000372748.3	-	10	576	c.480G>T	c.(478-480)ccG>ccT	p.P160P		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	160	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGATGGTTCCCGGGCGACCCT	0.632																																																0			1											73	76	75					1																	40777211		2203	4300	6503	40549798	SO:0001819	synonymous_variant	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.480G>T	1.37:g.40777211C>A			40549798	B2RMP9	Silent	SNP	ENST00000372748.3	37	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	5.198	0.222034	0.09863	.	.	ENSG00000049089	ENST00000417105	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.32071	0.0817	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51529	-0.8694	4	.	.	.	.	1.8065	0.03082	0.1876:0.1531:0.1997:0.4595	.	.	.	.	W	149	.	.	G	-	1	0	COL9A2	40549798	0.000000	0.05858	0.031000	0.17742	0.667000	0.39255	-5.351000	0.00129	-4.200000	0.00065	-1.012000	0.02466	GGG		0.632	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		A	40777211	C	A	40777211	2	1	345	1	0	0	0	0	0	0	0	1	3708	639	23	3		3	COL9A2	1	40777211	Silent	SNP	C	TCGA-29-1770-01A-01W-0633-09	2611075	40777211	208473410	4	18680											
DAB1	1600	genome.wustl.edu	37	1	57476871	57476871	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:57476871C>A	ENST00000371231.1	-	14	1652	c.1618G>T	c.(1618-1620)Gac>Tac	p.D540Y	DAB1_ENST00000420954.2_Missense_Mutation_p.D505Y|DAB1_ENST00000371234.4_Missense_Mutation_p.D507Y|DAB1_ENST00000439789.2_Missense_Mutation_p.D421Y|DAB1_ENST00000414851.2_Missense_Mutation_p.D489Y|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.D507Y			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	540					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCAAAGATGTCATCTGTGGTA	0.443																																																0			1											136	136	136					1																	57476871		2203	4300	6503	57249459	SO:0001583	missense	1600			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1618G>T	1.37:g.57476871C>A	ENSP00000360275:p.Asp540Tyr		57249459	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	C	19.35	3.811666	0.70797	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.58940	0.39;0.39;0.39;0.3;1.4;0.43	4.96	4.96	0.65561	.	0.143532	0.64402	D	0.000008	T	0.71962	0.3402	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.995;0.999	D;D;D;D;D	0.74674	0.954;0.965;0.975;0.919;0.984	T	0.73965	-0.3816	10	0.72032	D	0.01	-17.0352	18.7462	0.91794	0.0:1.0:0.0:0.0	.	489;540;507;421;505	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	Y	507;507;507;505;489;421;540	ENSP00000360280:D507Y;ENSP00000360278:D507Y;ENSP00000395296:D505Y;ENSP00000387581:D489Y;ENSP00000409328:D421Y;ENSP00000360275:D540Y	ENSP00000360275:D540Y	D	-	1	0	DAB1	57249459	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.220000	0.78008	2.724000	0.93272	0.555000	0.69702	GAC		0.443	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		A	57476871	C	A	57476871	3	1	345	1	0	0	0	0	1	0	0	0	4217	826	29	3	156	3	DAB1	1	57476871	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	16699660	57476871	191773750	5	18681											
FPGT	8790	genome.wustl.edu	37	1	74671261	74671266	+	In_Frame_Del	DEL	GGAACT	GGAACT	-	rs541020095		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	GGAACT	GGAACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:74671261_74671266delGGAACT	ENST00000609362.1	+	4	1567_1572	c.1530_1535delGGAACT	c.(1528-1536)gaggaactg>gag	p.EL511del	FPGT_ENST00000370894.5_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_In_Frame_Del_p.EL257del|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_In_Frame_Del_p.EL524del	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	511					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AAGTTACAGAGGAACTGTTCTCTGGT	0.364																																																0			1																																								74443854	SO:0001651	inframe_deletion	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1530_1535delGGAACT	1.37:g.74671261_74671266delGGAACT	ENSP00000476680:p.Glu511_Leu512del		74443849	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	In_Frame_Del	DEL	ENST00000609362.1	37	CCDS663.1																																																																																				0.364	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				-	74671266	GGAACT	-	74671261	7	5	345	1	0	1	0	1	0	0	0	0	6037	991	35	0	1544	0	FPGT	1	74671261	In_Frame_Del	DEL	GGAACT	TCGA-29-1770-01A-01W-0633-09	17194390	74671261	174579360	6	18682	26	2									
FPGT	8790	genome.wustl.edu	37	1	74671270	74671285	+	Frame_Shift_Del	DEL	CTCTGGTAACAAGACA	CTCTGGTAACAAGACA	-	rs200809071|rs140349152|rs375035895	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	CTCTGGTAACAAGACA	CTCTGGTAACAAGACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:74671270_74671285delCTCTGGTAACAAGACA	ENST00000609362.1	+	4	1576_1591	c.1539_1554delCTCTGGTAACAAGACA	c.(1537-1554)ttctctggtaacaagacafs	p.FSGNKT513fs	FPGT_ENST00000370894.5_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_Frame_Shift_Del_p.FSGNKT259fs|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Frame_Shift_Del_p.FSGNKT526fs	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	513					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.N516D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGGAACTGTTCTCTGGTAACAAGACATGTCTGAGTT	0.366																																																1	Substitution - Missense(1)	kidney(1)	1																																								74443873	SO:0001589	frameshift_variant	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1539_1554delCTCTGGTAACAAGACA	1.37:g.74671270_74671285delCTCTGGTAACAAGACA	ENSP00000476680:p.Phe513fs		74443858	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Frame_Shift_Del	DEL	ENST00000609362.1	37	CCDS663.1																																																																																				0.366	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				-	74671285	CTCTGGTAACAAGACA	-	74671270	7	5	345	1	0	1	0	1	0	0	0	0	6037	912	32	0	1553	0	FPGT	1	74671270	Frame_Shift_Del	DEL	CTCTGGTAACAAGACA	TCGA-29-1770-01A-01W-0633-09	9	74671270	174579351	7	18683	26	2									
AQP10	89872	genome.wustl.edu	37	1	154296875	154296875	+	Silent	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:154296875T>A	ENST00000324978.3	+	6	865	c.825T>A	c.(823-825)gcT>gcA	p.A275A	AQP10_ENST00000484864.1_3'UTR|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	275					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGAGCCAGCTCAGGATCTGG	0.592											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											73	73	73					1																	154296875		2203	4300	6503	152563499	SO:0001819	synonymous_variant	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.825T>A	1.37:g.154296875T>A		1762	152563499	Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	CCDS1065.1																																																																																				0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		A	154296875	T	A	154296875	2	1	345	1	0	0	0	0	0	0	0	1	822	1538	54	5		5	AQP10	1	154296875	Silent	SNP	T	TCGA-29-1770-01A-01W-0633-09	79625605	154296875	94953746	8	18684											
NLRP3	114548	genome.wustl.edu	37	1	247587626	247587626	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr1:247587626C>T	ENST00000336119.3	+	3	1627	c.881C>T	c.(880-882)cCc>cTc	p.P294L	NLRP3_ENST00000391828.3_Missense_Mutation_p.P294L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.P294L|NLRP3_ENST00000366497.2_Missense_Mutation_p.P294L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P294L|NLRP3_ENST00000348069.2_Missense_Mutation_p.P294L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	294	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAAAACCCTCCAGAATC	0.587																																																0			1											73	74	74					1																	247587626		2203	4300	6503	245654249	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.881C>T	1.37:g.247587626C>T	ENSP00000337383:p.Pro294Leu		245654249	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237586	0.22711	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	4.04	4.04	0.47022	NACHT nucleoside triphosphatase (1);	0.130542	0.35936	N	0.002881	D	0.89287	0.6672	M	0.85041	2.73	0.09310	N	0.999993	P;D;D;P;D	0.89917	0.949;1.0;0.998;0.929;0.998	P;D;D;P;D	0.76575	0.78;0.988;0.969;0.879;0.982	T	0.81293	-0.0998	10	0.87932	D	0	.	11.9927	0.53184	0.0:1.0:0.0:0.0	.	294;294;294;294;294	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	294	ENSP00000375704:P294L;ENSP00000355453:P294L;ENSP00000337383:P294L;ENSP00000294752:P294L;ENSP00000355452:P294L;ENSP00000375703:P294L	ENSP00000337383:P294L	P	+	2	0	NLRP3	245654249	0.000000	0.05858	0.206000	0.23566	0.038000	0.13279	0.646000	0.24797	2.543000	0.85770	0.563000	0.77884	CCC		0.587	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		T	247587626	C	T	247587626	3	4	345	1	0	0	0	0	1	0	0	0	10478	623	22	2	891	2	NLRP3	1	247587626	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	93290751	247587626	1662995	9	18685											
GPR113	165082	genome.wustl.edu	37	2	26534724	26534724	+	Silent	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:26534724G>A	ENST00000311519.1	-	11	1871	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	GPR113_ENST00000421160.2_Silent_p.S555S|GPR113_ENST00000541401.1_Silent_p.S227S|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.S425S	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	624					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGAGATGCTGTAGTCAG	0.567																																																0			2											45	42	43					2																	26534724		2203	4300	6503	26388228	SO:0001819	synonymous_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1872C>T	2.37:g.26534724G>A			26388228	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	CCDS46239.1																																																																																				0.567	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		A	26534724	G	A	26534724	2	1	345	1	0	0	0	0	0	0	0	1	6630	1310	46	2		2	GPR113	2	26534724	Silent	SNP	G	TCGA-29-1770-01A-01W-0633-09		26534724	216664649	10	18686											
RAB11FIP5	26056	genome.wustl.edu	37	2	73315448	73315448	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:73315448G>A	ENST00000258098.6	-	3	1538	c.1298C>T	c.(1297-1299)cCa>cTa	p.P433L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	433					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AACCTGGACTGGCTTGCCCTC	0.657																																																0			2											62	58	59					2																	73315448		2203	4300	6503	73168956	SO:0001583	missense	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1298C>T	2.37:g.73315448G>A	ENSP00000258098:p.Pro433Leu		73168956	O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359893	0.61403	.	.	ENSG00000135631	ENST00000258098	T	0.68479	-0.33	4.83	4.83	0.62350	.	0.065110	0.64402	D	0.000010	T	0.63977	0.2557	L	0.59436	1.845	0.80722	D	1	P;P	0.48503	0.911;0.835	B;B	0.39840	0.311;0.291	T	0.71297	-0.4635	10	0.62326	D	0.03	-7.9837	17.0265	0.86448	0.0:0.0:1.0:0.0	.	433;433	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	L	433	ENSP00000258098:P433L	ENSP00000258098:P433L	P	-	2	0	RAB11FIP5	73168956	1.000000	0.71417	0.963000	0.40424	0.723000	0.41478	3.779000	0.55379	2.692000	0.91855	0.561000	0.74099	CCA		0.657	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		A	73315448	G	A	73315448	3	1	345	1	0	0	0	0	1	0	0	0	12900	1348	47	2	675	2	RAB11FIP5	2	73315448	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	46780724	73315448	169883925	11	18687											
AUP1	165545	genome.wustl.edu	37	2	74754614	74754614	+	5'Flank	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:74754614G>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Silent_p.V315V|DQX1_ENST00000393951.2_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTCTGGATGACACCCAATG	0.547																																																0			2											127	128	128					2																	74754614		1904	4114	6018	74608122	SO:0001631	upstream_gene_variant	550			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754614G>A	Exception_encountered		74608122	Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	CCDS1949.2																																																																																				0.547	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		A	74754614	G	A	74754614	1	1	345	0	1	0	0	0	0	0	0	0	1220	1277	45	2		2	AUP1	2	74754614	5'Flank	SNP	G	TCGA-29-1770-01A-01W-0633-09	1439166	74754614	168444759	12	18688											
IL1R2	7850	genome.wustl.edu	37	2	102641093	102641093	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:102641093G>A	ENST00000332549.3	+	7	1079	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Missense_Mutation_p.A284T|IL1R2_ENST00000441002.1_Missense_Mutation_p.A284T	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	284	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CATAGAGAGCGCCTACCCGGG	0.582																																					Pancreas(106;189 1628 2302 5133 12295)											0			2											60	56	57					2																	102641093		2203	4300	6503	102007525	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.850G>A	2.37:g.102641093G>A	ENSP00000330959:p.Ala284Thr		102007525	D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943641	0.34283	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.20738	2.05;2.05;2.05	5.86	3.03	0.35002	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.227427	0.38720	N	0.001590	T	0.24928	0.0605	L	0.51422	1.61	0.20703	N	0.999867	D	0.63880	0.993	P	0.53185	0.72	T	0.06917	-1.0800	10	0.22706	T	0.39	.	7.2229	0.25999	0.1527:0.1388:0.7085:0.0	.	284	P27930	IL1R2_HUMAN	T	284	ENSP00000330959:A284T;ENSP00000377066:A284T;ENSP00000414611:A284T	ENSP00000330959:A284T	A	+	1	0	IL1R2	102007525	0.459000	0.25768	0.269000	0.24586	0.017000	0.09413	1.524000	0.35942	0.836000	0.34901	-0.142000	0.14014	GCC		0.582	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		A	102641093	G	A	102641093	3	1	345	1	0	0	0	0	1	0	0	0	7659	1087	38	1	872	1	IL1R2	2	102641093	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	27886479	102641093	140558280	13	18689											
TTN	7273	genome.wustl.edu	37	2	179436063	179436063	+	Silent	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr2:179436063T>C	ENST00000591111.1	-	276	70097	c.69873A>G	c.(69871-69873)ccA>ccG	p.P23291P	TTN_ENST00000342175.6_Silent_p.P16059P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.P15867P|TTN_ENST00000359218.5_Silent_p.P15992P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.P24932P|TTN_ENST00000342992.6_Silent_p.P22364P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23291	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCACTGATTGGCTCATTCC	0.448																																																0			2											133	125	128					2																	179436063		1948	4155	6103	179144309	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69873A>G	2.37:g.179436063T>C			179144309	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179436063	T	C	179436063	2	2	345	1	0	0	0	0	0	0	0	1	16735	1799	63	4		4	TTN	2	179436063	Silent	SNP	T	TCGA-29-1770-01A-01W-0633-09	76794970	179436063	63763310	14	18690											
TMPPE	643853	genome.wustl.edu	37	3	33135657	33135657	+	Missense_Mutation	SNP	C	C	T	rs199657885		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:33135657C>T	ENST00000342462.4	-	2	221	c.31G>A	c.(31-33)Gcg>Acg	p.A11T	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	11						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A11T(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GTGGCCTTCGCGCCTAGGGAC	0.582																																																1	Substitution - Missense(1)	large_intestine(1)	3											59	58	58					3																	33135657		2201	4299	6500	33110661	SO:0001583	missense	0			AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.31G>A	3.37:g.33135657C>T	ENSP00000343398:p.Ala11Thr		33110661	B2RNG5|Q6ZRG1	Missense_Mutation	SNP	ENST00000342462.4	37	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	C	4.598	0.111049	0.08831	.	.	ENSG00000188167	ENST00000342462	.	.	.	5.66	0.092	0.14470	.	2.434530	0.03134	U	0.165526	T	0.28034	0.0691	L	0.27053	0.805	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.08106	-1.0738	9	0.18710	T	0.47	0.815	4.5852	0.12279	0.3007:0.4588:0.0:0.2405	.	11	Q6ZT21	TMPPE_HUMAN	T	11	.	ENSP00000343398:A11T	A	-	1	0	TMPPE	33110661	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	0.108000	0.15396	-0.285000	0.09089	-0.310000	0.09108	GCG		0.582	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		T	33135657	C	T	33135657	3	4	345	1	0	0	0	0	1	0	0	0	16238	768	27	1	1334	1	TMPPE	3	33135657	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09		33135657	164886773	15	18691											
ZNF662	389114	genome.wustl.edu	37	3	42955999	42955999	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:42955999G>T	ENST00000541208.1	+	5	803	c.434G>T	c.(433-435)gGa>gTa	p.G145V	ZNF662_ENST00000328199.6_Missense_Mutation_p.G171V|ZNF662_ENST00000440367.2_Missense_Mutation_p.G145V|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTCAATGGGGGACGTATGGAA	0.438																																																0			3											96	98	98					3																	42955999		2203	4300	6503	42931003	SO:0001583	missense	389114			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.434G>T	3.37:g.42955999G>T	ENSP00000446208:p.Gly145Val		42931003	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	2.090	-0.408711	0.04799	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.53423	0.62;0.62;0.62	2.27	-2.77	0.05877	.	.	.	.	.	T	0.26557	0.0649	L	0.29908	0.895	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.14023	0.01;0.005	T	0.22487	-1.0215	9	0.16420	T	0.52	.	3.7876	0.08707	0.5272:0.2041:0.2688:0.0	.	171;145	F8W7S8;Q6ZS27	.;ZN662_HUMAN	V	145;171;145	ENSP00000405047:G145V;ENSP00000329264:G171V;ENSP00000446208:G145V	ENSP00000329264:G171V	G	+	2	0	ZNF662	42931003	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-0.559000	0.05971	-0.791000	0.04486	0.555000	0.69702	GGA		0.438	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		T	42955999	G	T	42955999	3	4	345	1	0	0	0	0	1	0	0	0	18071	1174	41	3	635	3	ZNF662	3	42955999	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	9820342	42955999	155066431	16	18692											
FILIP1L	11259	genome.wustl.edu	37	3	99569558	99569558	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:99569558C>T	ENST00000354552.3	-	5	1432	c.962G>A	c.(961-963)cGc>cAc	p.R321H	FILIP1L_ENST00000383694.2_Missense_Mutation_p.R81H|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R81H|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.R321H|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	321						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGAAGCTGGCGATTTTGACT	0.463																																																0			3											188	182	184					3																	99569558		1879	4101	5980	101052248	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.962G>A	3.37:g.99569558C>T	ENSP00000346560:p.Arg321His		101052248	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126010	0.77436	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.32515	1.95;1.45;1.95;1.45;1.47	5.81	4.94	0.65067	.	0.000000	0.52532	D	0.000063	T	0.52338	0.1728	M	0.80422	2.495	0.43152	D	0.99492	D;D	0.63046	0.992;0.986	P;P	0.56916	0.809;0.65	T	0.60816	-0.7188	10	0.66056	D	0.02	-3.3563	14.761	0.69607	0.0:0.9307:0.0:0.0693	.	321;321	Q4L180-2;Q4L180	.;FIL1L_HUMAN	H	321;81;321;81;81;81	ENSP00000346560:R321H;ENSP00000419642:R81H;ENSP00000327880:R321H;ENSP00000373192:R81H;ENSP00000419874:R81H	ENSP00000327880:R321H	R	-	2	0	FILIP1L	101052248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.331000	0.52075	1.458000	0.47871	0.655000	0.94253	CGC		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		T	99569558	C	T	99569558	3	4	345	1	0	0	0	0	1	0	0	0	5895	768	27	1	2474	1	FILIP1L	3	99569558	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	56613559	99569558	98452872	17	18693											
PIK3CB	5291	genome.wustl.edu	37	3	138478176	138478176	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:138478176T>A	ENST00000477593.1	-	2	83	c.10A>T	c.(10-12)Agt>Tgt	p.S4C	PIK3CB_ENST00000289153.2_Missense_Mutation_p.S4C			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	4					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATTATGAAACTGAAGCACATT	0.423																																																0			3											82	79	80					3																	138478176		2203	4300	6503	139960866	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.10A>T	3.37:g.138478176T>A	ENSP00000418143:p.Ser4Cys		139960866	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148979	0.37923	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451;ENST00000465581	T;T;T;T	0.73258	-0.45;-0.45;-0.73;-0.73	5.84	0.546	0.17196	.	0.811304	0.11165	N	0.592607	T	0.44393	0.1291	N	0.08118	0	0.18873	N	0.999984	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.41790	T	0.15	0.1673	2.9379	0.05820	0.2173:0.0698:0.3812:0.3317	.	4	P42338	PK3CB_HUMAN	C	4	ENSP00000418143:S4C;ENSP00000289153:S4C;ENSP00000419857:S4C;ENSP00000420399:S4C	ENSP00000289153:S4C	S	-	1	0	PIK3CB	139960866	0.002000	0.14202	0.079000	0.20413	0.996000	0.88848	-0.054000	0.11826	-0.128000	0.11641	0.533000	0.62120	AGT		0.423	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			A	138478176	T	A	138478176	3	1	345	1	0	0	0	0	1	0	0	0	11914	1580	55	5	3288	5	PIK3CB	3	138478176	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09	38908618	138478176	59544254	18	18694											
SR140	23350	genome.wustl.edu	37	3	142729687	142729687	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:142729687T>C	ENST00000473835.2	+	2	166	c.76T>C	c.(76-78)Tct>Cct	p.S26P	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S26P	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	26					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTCATCTGGATCTTCAGATGC	0.303																																																0			3											148	138	141					3																	142729687		1817	4085	5902	144212377	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.76T>C	3.37:g.142729687T>C	ENSP00000418563:p.Ser26Pro		144212377	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964706	0.53507	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598	T;T	0.12147	2.71;2.71	5.85	5.85	0.93711	.	0.198645	0.44097	D	0.000486	T	0.19485	0.0468	N	0.14661	0.345	0.80722	D	1	B;P;P	0.42518	0.026;0.782;0.676	B;P;P	0.58391	0.029;0.838;0.693	T	0.06250	-1.0837	10	0.87932	D	0	-14.0158	12.6273	0.56636	0.0:0.0:0.0:1.0	.	26;26;26	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	P	26	ENSP00000418563:S26P;ENSP00000422011:S26P	ENSP00000322376:S26P	S	+	1	0	U2SURP	144212377	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.049000	0.57397	2.238000	0.73509	0.533000	0.62120	TCT		0.303	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		C	142729687	T	C	142729687	3	2	345	1	0	0	0	0	1	0	0	0	15133	1435	50	4	82	4	SR140	3	142729687	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09	4251511	142729687	55292743	19	18695											
AADAC	13	genome.wustl.edu	37	3	151545684	151545684	+	Silent	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:151545684T>G	ENST00000232892.7	+	5	1050	c.924T>G	c.(922-924)gcT>gcG	p.A308A	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	308					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGAGCTGGCTAAAAAATATC	0.423																																					Ovarian(30;839 841 2699 32801 46334)											0			3											44	45	45					3																	151545684		2203	4300	6503	153028374	SO:0001819	synonymous_variant	13			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"arylacetamide deacetylase (esterase)"			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.924T>G	3.37:g.151545684T>G			153028374	A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	CCDS33877.1																																																																																				0.423	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		G	151545684	T	G	151545684	2	3	345	1	0	0	0	0	0	0	0	1	10	1509	53	5		5	AADAC	3	151545684	Silent	SNP	T	TCGA-29-1770-01A-01W-0633-09	8815997	151545684	46476746	20	18696											
GHSR	2693	genome.wustl.edu	37	3	172165395	172165395	+	Intron	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:172165395C>T	ENST00000241256.2	-	1	839				GHSR_ENST00000427970.1_Missense_Mutation_p.R270H	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor						actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCTGAGCGCGCGCTGAGACCC	0.602																																					Esophageal Squamous(93;641 1401 20883 29581 34638)											0			3											86	93	91					3																	172165395		2203	4300	6503	173648089	SO:0001627	intron_variant	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.796+12G>A	3.37:g.172165395C>T			173648089	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100878	0.20552	.	.	ENSG00000121853	ENST00000427970	T	0.62941	-0.01	5.43	0.929	0.19449	.	.	.	.	.	T	0.35248	0.0925	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.15723	-1.0427	8	0.15499	T	0.54	.	2.2881	0.04132	0.2408:0.4719:0.1082:0.1791	.	270	Q92847-2	.	H	270	ENSP00000395344:R270H	ENSP00000395344:R270H	R	-	2	0	GHSR	173648089	0.384000	0.25164	0.002000	0.10522	0.046000	0.14306	1.001000	0.29783	0.653000	0.30826	0.455000	0.32223	CGC		0.602	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		T	172165395	C	T	172165395	1	4	345	0	1	0	0	0	0	0	0	0	6375	768	27	1		1	GHSR	3	172165395	Intron	SNP	C	TCGA-29-1770-01A-01W-0633-09	20619711	172165395	25857035	21	18697											
CHRD	8646	genome.wustl.edu	37	3	184106727	184106727	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:184106727C>A	ENST00000204604.1	+	22	3002	c.2756C>A	c.(2755-2757)tCc>tAc	p.S919Y	CHRD_ENST00000348986.3_Missense_Mutation_p.S879Y|CHRD_ENST00000545352.1_Missense_Mutation_p.S461Y|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.S919Y	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	919	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCACTGTCCTGTGGCTCG	0.632																																																0			3											108	93	98					3																	184106727		2203	4300	6503	185589421	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2756C>A	3.37:g.184106727C>A	ENSP00000204604:p.Ser919Tyr		185589421	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931200	0.52866	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.93	4.93	0.64822	von Willebrand factor, type C (1);	0.543583	0.17867	N	0.159312	T	0.75635	0.3876	M	0.79475	2.455	0.22610	N	0.998931	P;D;P;D	0.59767	0.925;0.983;0.895;0.986	B;P;P;P	0.58391	0.363;0.807;0.547;0.838	T	0.69483	-0.5133	10	0.72032	D	0.01	-12.6245	13.6767	0.62458	0.0:1.0:0.0:0.0	.	461;879;919;919	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	Y	919;919;879;461	ENSP00000204604:S919Y;ENSP00000408972:S919Y;ENSP00000334036:S879Y;ENSP00000442948:S461Y	ENSP00000204604:S919Y	S	+	2	0	CHRD	185589421	1.000000	0.71417	0.987000	0.45799	0.236000	0.25371	2.800000	0.47900	2.273000	0.75805	0.655000	0.94253	TCC		0.632	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		A	184106727	C	A	184106727	3	1	345	1	0	0	0	0	1	0	0	0	3372	855	30	3	2842	3	CHRD	3	184106727	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	11941332	184106727	13915703	22	18698											
MAP3K13	9175	genome.wustl.edu	37	3	185165692	185165692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr3:185165692G>T	ENST00000265026.3	+	5	1301	c.967G>T	c.(967-969)Gag>Tag	p.E323*	MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.E179*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.E116*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E323*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.E179*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GATGGCGCCAGAGGTGATACG	0.453																																																0			3											71	67	68					3																	185165692		2203	4300	6503	186648386	SO:0001587	stop_gained	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.967G>T	3.37:g.185165692G>T	ENSP00000265026:p.Glu323*		186648386		Nonsense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	38	6.850661	0.97885	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6412	0.95758	0.0:0.0:1.0:0.0	.	.	.	.	X	116;323;179;179;323;68	.	ENSP00000265026:E323X	E	+	1	0	MAP3K13	186648386	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	9.824000	0.99380	2.710000	0.92621	0.555000	0.69702	GAG		0.453	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		T	185165692	G	T	185165692	4	4	345	1	0	0	0	0	0	1	0	0	9247	943	33	3	981	3	MAP3K13	3	185165692	Nonsense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	1058965	185165692	12856738	23	18699											
PIGG	54872	genome.wustl.edu	37	4	524364	524364	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr4:524364T>G	ENST00000453061.2	+	11	2507	c.2401T>G	c.(2401-2403)Tta>Gta	p.L801V	PIGG_ENST00000504346.1_Missense_Mutation_p.L712V|PIGG_ENST00000310340.5_Missense_Mutation_p.L793V|PIGG_ENST00000383028.4_Missense_Mutation_p.L668V|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	801					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ATATAGTGGATTAGTTCTTCT	0.413																																																0			4											238	231	233					4																	524364		2203	4300	6503	514364	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2401T>G	4.37:g.524364T>G	ENSP00000415203:p.Leu801Val		514364	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	8.679	0.904629	0.17760	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.11821	3.07;3.07;2.74;2.74	5.62	-1.61	0.08399	.	0.138228	0.50627	D	0.000118	T	0.10078	0.0247	L	0.35723	1.085	0.46376	D	0.99901	B;B;B	0.31503	0.326;0.19;0.288	B;B;B	0.32928	0.155;0.072;0.151	T	0.11842	-1.0571	10	0.40728	T	0.16	-7.7844	10.5165	0.44892	0.0:0.5042:0.0:0.4958	.	668;801;793	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	V	793;801;712;668	ENSP00000311750:L793V;ENSP00000415203:L801V;ENSP00000424800:L712V;ENSP00000372494:L668V	ENSP00000311750:L793V	L	+	1	2	PIGG	514364	0.001000	0.12720	0.000000	0.03702	0.186000	0.23388	-0.479000	0.06567	-0.410000	0.07542	0.533000	0.62120	TTA		0.413	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		G	524364	T	G	524364	3	3	345	1	0	0	0	0	1	0	0	0	11888	1490	52	5	2443	5	PIGG	4	524364	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09		524364	190629912	24	18700											
FRAS1	80144	genome.wustl.edu	37	4	79418103	79418104	+	In_Frame_Ins	INS	-	-	ATG			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr4:79418103_79418104insATG	ENST00000264895.6	+	60	9543_9544	c.9103_9104insATG	c.(9103-9105)aat>aATGat	p.3036_3037insD		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3032	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCATATCCAATGATGAAGAT	0.391																																																0			4																																								79637128	SO:0001652	inframe_insertion	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9107_9109dupATG	4.37:g.79418107_79418109dupATG	ENSP00000264895:p.Asp3037_Asp3038dup		79637127	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	In_Frame_Ins	INS	ENST00000264895.6	37	CCDS54771.1																																																																																				0.391	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				ATG	79418104	-	ATG	79418103	7	5	345	1	0	1	1	0	0	0	0	0	6042	130	5	0	9416	0	FRAS1	4	79418103	In_Frame_Ins	INS	-	TCGA-29-1770-01A-01W-0633-09	78893739	79418103	111736173	25	18701											
EGFLAM	133584	genome.wustl.edu	37	5	38409165	38409165	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr5:38409165T>A	ENST00000354891.3	+	10	1654	c.1308T>A	c.(1306-1308)gaT>gaA	p.D436E	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D202E|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D436E	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	436	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGAGGGGGGATTTCATGTCCC	0.468																																					Colon(62;485 1295 3347 17454)											0			5											78	73	75					5																	38409165		2203	4300	6503	38444922	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1308T>A	5.37:g.38409165T>A	ENSP00000346964:p.Asp436Glu		38444922	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424888	0.83667	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.81078	-1.45;-1.45;-1.45	5.82	-3.04	0.05412	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.90147	0.6921	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89677	0.3888	10	0.87932	D	0	-29.0413	12.8901	0.58066	0.0:0.3684:0.0:0.6316	.	202;436;436	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	E	436;436;202;202	ENSP00000346964:D436E;ENSP00000313084:D436E;ENSP00000337607:D202E	ENSP00000313084:D436E	D	+	3	2	EGFLAM	38444922	0.728000	0.28080	0.759000	0.31340	0.806000	0.45545	-0.156000	0.10100	-0.670000	0.05282	0.533000	0.62120	GAT		0.468	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		A	38409165	T	A	38409165	3	1	345	1	0	0	0	0	1	0	0	0	4966	1490	52	5	1360	5	EGFLAM	5	38409165	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09		38409165	142506095	26	18702											
CSF1R	1436	genome.wustl.edu	37	5	149435640	149435640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr5:149435640G>A	ENST00000286301.3	-	19	2794	c.2503C>T	c.(2503-2505)Cag>Tag	p.Q835*		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACGTCGCTCTGAACCGTGTAG	0.602																																																0			5											97	95	96					5																	149435640		2203	4300	6503	149415833	SO:0001587	stop_gained	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2503C>T	5.37:g.149435640G>A	ENSP00000286301:p.Gln835*		149415833	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Nonsense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	g	41	9.062277	0.99053	.	.	ENSG00000182578	ENST00000286301	.	.	.	5.22	5.22	0.72569	.	0.000000	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.776	0.91911	0.0:0.0:1.0:0.0	.	.	.	.	X	835	.	ENSP00000286301:Q835X	Q	-	1	0	CSF1R	149415833	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.852000	0.99516	2.431000	0.82371	0.401000	0.26515	CAG		0.602	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		A	149435640	G	A	149435640	4	1	345	1	0	0	0	0	0	1	0	0	3932	1299	45	2	431	2	CSF1R	5	149435640	Nonsense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	111026475	149435640	31479620	27	18703											
TBC1D22B	55633	genome.wustl.edu	37	6	37252187	37252187	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr6:37252187G>A	ENST00000373491.3	+	6	894	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	250	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TGGCTTCATTGAACAGTATTA	0.473																																																0			6											126	114	118					6																	37252187		2203	4300	6503	37360165	SO:0001583	missense	55633			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.748G>A	6.37:g.37252187G>A	ENSP00000362590:p.Glu250Lys		37360165	A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	ENST00000373491.3	37	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522318	0.64747	.	.	ENSG00000065491	ENST00000373491	T	0.10960	2.82	5.95	5.95	0.96441	Rab-GAP/TBC domain (4);	0.051131	0.85682	D	0.000000	T	0.03390	0.0098	N	0.16743	0.435	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.42982	-0.9419	10	0.13853	T	0.58	.	19.1462	0.93469	0.0:0.0:1.0:0.0	.	250	Q9NU19	TB22B_HUMAN	K	250	ENSP00000362590:E250K	ENSP00000362590:E250K	E	+	1	0	TBC1D22B	37360165	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.156000	0.58138	2.817000	0.96982	0.563000	0.77884	GAA		0.473	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		A	37252187	G	A	37252187	3	1	345	1	0	0	0	0	1	0	0	0	15612	1291	45	2	770	2	TBC1D22B	6	37252187	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09		37252187	133862880	28	18704											
C6orf138	442213	genome.wustl.edu	37	6	47976601	47976601	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr6:47976601A>T	ENST00000339488.4	-	2	709	c.676T>A	c.(676-678)Ttt>Att	p.F226I	PTCHD4_ENST00000543600.1_Missense_Mutation_p.F209I	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	226						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GTCTTATGAAAGTCCCTCCAG	0.527																																																0			6											72	72	72					6																	47976601		1975	4181	6156	48084560	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.676T>A	6.37:g.47976601A>T	ENSP00000341914:p.Phe226Ile		48084560	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.582380|4.582380	0.86748|0.86748	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.83837|.	-1.77;-1.77|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68869|0.68869	0.3048|0.3048	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	B;D|.	0.69078|.	0.302;0.997|.	B;D|.	0.80764|.	0.205;0.994|.	T|T	0.68981|0.68981	-0.5266|-0.5266	10|5	0.27082|.	T|.	0.32|.	.|.	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	226;209|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	I|H	226;209|225	ENSP00000341914:F226I;ENSP00000439864:F209I|.	ENSP00000341914:F226I|.	F|L	-|-	1|2	0|0	C6orf138|C6orf138	48084560|48084560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.962000|8.962000	0.93254|0.93254	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	TTT|CTT		0.527	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		T	47976601	A	T	47976601	3	4	345	1	0	0	0	0	1	0	0	0	2332	72	3	5	1872	5	C6orf138	6	47976601	Missense_Mutation	SNP	A	TCGA-29-1770-01A-01W-0633-09	10724414	47976601	123138466	29	18705											
TFAP2B	7021	genome.wustl.edu	37	6	50810825	50810825	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr6:50810825C>T	ENST00000393655.3	+	7	1272	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	TFAP2B_ENST00000263046.4_Missense_Mutation_p.T377M	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAAGAATTTACGGATCTACTG	0.562																																					Pancreas(116;1373 2332 5475 10752)											0			6											96	101	99					6																	50810825		2203	4300	6503	50918784	SO:0001583	missense	7021			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1103C>T	6.37:g.50810825C>T	ENSP00000377265:p.Thr368Met		50918784	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724325	0.48728	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96885	-4.16;-4.16	4.79	4.79	0.61399	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	N	0.16266	0.395	0.58432	D	0.999999	B	0.34226	0.443	B	0.19946	0.027	D	0.86851	0.2023	10	0.20046	T	0.44	-11.8512	17.8403	0.88713	0.0:1.0:0.0:0.0	.	368	Q92481	AP2B_HUMAN	M	368;377	ENSP00000377265:T368M;ENSP00000263046:T377M	ENSP00000263046:T377M	T	+	2	0	TFAP2B	50918784	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.089000	0.71384	2.214000	0.71695	0.655000	0.94253	ACG		0.562	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		T	50810825	C	T	50810825	3	4	345	1	0	0	0	0	1	0	0	0	15788	536	19	1	1129	1	TFAP2B	6	50810825	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	2834224	50810825	120304242	30	18706											
PMS2	5395	genome.wustl.edu	37	7	6018254	6018254	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr7:6018254C>A	ENST00000265849.7	-	13	2353	c.2248G>T	c.(2248-2250)Ggc>Tgc	p.G750C	PMS2_ENST00000382321.4_Missense_Mutation_p.G349C|PMS2_ENST00000441476.2_Missense_Mutation_p.G644C|PMS2_ENST00000406569.3_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	750					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AAATCAAAGCCATTCTTTCTA	0.388			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0			7											100	81	88					7																	6018254		2197	4284	6481	5984780	SO:0001583	missense	5395	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2248G>T	7.37:g.6018254C>A	ENSP00000265849:p.Gly750Cys		5984780	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618739	0.87460	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	D;D;D	0.97553	-4.43;-4.43;-4.43	5.73	5.73	0.89815	MutL, C-terminal, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99226	1.0880	10	0.87932	D	0	-15.8826	18.8876	0.92385	0.0:1.0:0.0:0.0	.	349;750;644	P54278-2;P54278;C9J167	.;PMS2_HUMAN;.	C	750;703;349;644	ENSP00000265849:G750C;ENSP00000371758:G349C;ENSP00000392843:G644C	ENSP00000265849:G750C	G	-	1	0	PMS2	5984780	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.273000	0.78527	2.707000	0.92482	0.555000	0.69702	GGC		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		A	6018254	C	A	6018254	3	1	345	1	0	0	0	0	1	0	0	0	12143	594	21	3	352	3	PMS2	7	6018254	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09		6018254	153120409	31	18707											
KIAA1324L	222223	genome.wustl.edu	37	7	86522377	86522377	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr7:86522377T>A	ENST00000450689.2	-	20	2910	c.2725A>T	c.(2725-2727)Aaa>Taa	p.K909*	KIAA1324L_ENST00000416314.1_Nonsense_Mutation_p.K742*|KIAA1324L_ENST00000297222.6_Nonsense_Mutation_p.K669*|KIAA1324L_ENST00000444627.1_Nonsense_Mutation_p.K838*	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	909						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAAATTCCTTTAATGCACCAT	0.393																																																0			7											106	117	114					7																	86522377		2203	4300	6503	86360313	SO:0001587	stop_gained	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2725A>T	7.37:g.86522377T>A	ENSP00000413445:p.Lys909*		86360313	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Nonsense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	42|42	9.430220|9.430220	0.99169|0.99169	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.146095|.	0.64402|.	D|.	0.000005|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.15952|.	T|.	0.53|.	.|.	15.7258|15.7258	0.77756|0.77756	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	909;669;838;742|869	.|.	ENSP00000297222:K669X|.	K|X	-|-	1|2	0|2	KIAA1324L|KIAA1324L	86360313|86360313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.137000|4.137000	0.58010|0.58010	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	AAA|TAA		0.393	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		A	86522377	T	A	86522377	4	1	345	1	0	0	0	0	0	1	0	0	8224	1763	61	5	376	5	KIAA1324L	7	86522377	Nonsense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09	80504123	86522377	72616286	32	18708											
LHFPL3	375612	genome.wustl.edu	37	7	103969407	103969407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr7:103969407G>A	ENST00000401970.2	+	1	260	c.138G>A	c.(136-138)tgG>tgA	p.W46*	LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.W60*|LHFPL3_ENST00000535008.1_Nonsense_Mutation_p.W60*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.W46*			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	60						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						AGCCCTACTGGATAGGCGACG	0.622																																																0			7											68	81	77					7																	103969407		2192	4297	6489	103756643	SO:0001587	stop_gained	375612			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.138G>A	7.37:g.103969407G>A	ENSP00000385374:p.Trp46*		103756643	A1L383|A4D0Q5	Nonsense_Mutation	SNP	ENST00000401970.2	37		.	.	.	.	.	.	.	.	.	.	G	39	7.812877	0.98504	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.229	17.6888	0.88263	0.0:0.0:1.0:0.0	.	.	.	.	X	46;60;46;60	.	ENSP00000385374:W46X	W	+	3	0	LHFPL3	103756643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.469000	0.97679	2.156000	0.67533	0.514000	0.50259	TGG		0.622	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		A	103969407	G	A	103969407	4	1	345	1	0	0	0	0	0	1	0	0	8766	1183	41	2	182	2	LHFPL3	7	103969407	Nonsense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	17447030	103969407	55169256	33	18709											
RGS20	8601	genome.wustl.edu	37	8	54870958	54870958	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:54870958G>C	ENST00000297313.3	+	6	1199	c.1107G>C	c.(1105-1107)atG>atC	p.M369I	RGS20_ENST00000344277.6_Missense_Mutation_p.M254I|RGS20_ENST00000276500.4_Missense_Mutation_p.M222I|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_Missense_Mutation_p.M103I	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	369	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CTCGATTCATGAACTCTGCTG	0.353																																																0			8											140	113	122					8																	54870958		2203	4300	6503	55033511	SO:0001583	missense	8601			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.1107G>C	8.37:g.54870958G>C	ENSP00000297313:p.Met369Ile		55033511	Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774577	0.49786	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.01647	4.71;4.71;4.71;4.71	5.2	5.2	0.72013	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.037056	0.85682	D	0.000000	T	0.01124	0.0037	N	0.00793	-1.18	0.51767	D	0.999938	B;B;B;B;B	0.18013	0.001;0.001;0.002;0.006;0.025	B;B;B;B;B	0.24701	0.002;0.002;0.006;0.018;0.055	T	0.69105	-0.5233	10	0.46703	T	0.11	.	18.7381	0.91764	0.0:0.0:1.0:0.0	.	133;161;222;254;369	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	I	369;254;103;222	ENSP00000297313:M369I;ENSP00000344630:M254I;ENSP00000430627:M103I;ENSP00000276500:M222I	ENSP00000276500:M222I	M	+	3	0	RGS20	55033511	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.561000	0.82288	2.394000	0.81467	0.650000	0.86243	ATG		0.353	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			C	54870958	G	C	54870958	3	2	345	1	0	0	0	0	1	0	0	0	13306	1290	45	3	1202	3	RGS20	8	54870958	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09		54870958	91493064	34	18710											
E2F5	1875	genome.wustl.edu	37	8	86121470	86121470	+	Nonsense_Mutation	SNP	A	A	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:86121470A>T	ENST00000416274.2	+	6	743	c.709A>T	c.(709-711)Aag>Tag	p.K237*	E2F5_ENST00000418930.2_Nonsense_Mutation_p.K237*|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Nonsense_Mutation_p.K238*|E2F5_ENST00000517476.1_Nonsense_Mutation_p.K76*|E2F5_ENST00000521429.1_Nonsense_Mutation_p.K64*	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	237					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GAGTTCATCTAAGCCCGTGGT	0.458																																																0			8											139	138	138					8																	86121470		1965	4143	6108	86308722	SO:0001587	stop_gained	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.709A>T	8.37:g.86121470A>T	ENSP00000398124:p.Lys237*		86308722	E9PBN9|Q16601|Q92756	Nonsense_Mutation	SNP	ENST00000416274.2	37	CCDS47885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	40|40	8.422558|8.422558	0.98803|0.98803	.|.	.|.	ENSG00000133740|ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234|ENST00000520225	.|.	.|.	.|.	6.13|6.13	3.64|3.64	0.41730|0.41730	.|.	0.271772|.	0.42964|.	D|.	0.000623|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-16.0015|-16.0015	13.3507|13.3507	0.60601|0.60601	0.7529:0.2471:0.0:0.0|0.7529:0.2471:0.0:0.0	.|.	.|.	.|.	.|.	X|L	237;238;237;76;64;73|8	.|.	ENSP00000256117:K238X|.	K|X	+|+	1|2	0|2	E2F5|E2F5	86308722|86308722	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	4.062000|4.062000	0.57492|0.57492	1.121000|1.121000	0.41925|0.41925	0.529000|0.529000	0.55759|0.55759	AAG|TAA		0.458	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		T	86121470	A	T	86121470	4	4	345	1	0	0	0	0	0	1	0	0	4870	363	13	5	731	5	E2F5	8	86121470	Nonsense_Mutation	SNP	A	TCGA-29-1770-01A-01W-0633-09	31250512	86121470	60242552	35	18711											
CSMD3	114788	genome.wustl.edu	37	8	113259299	113259299	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:113259299C>T	ENST00000297405.5	-	64	10416	c.10172G>A	c.(10171-10173)cGc>cAc	p.R3391H	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3321H|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3351H|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3222H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3391	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3391L(1)|p.R3351L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGGCAGGTGCGTGTTGTAGA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - Missense(2)	lung(2)	8											132	115	121					8																	113259299		2203	4300	6503	113328475	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10172G>A	8.37:g.113259299C>T	ENSP00000297405:p.Arg3391His		113328475	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239619	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.79	4.79	0.61399	Complement control module (2);Sushi/SCR/CCP (3);	0.074567	0.48767	D	0.000168	D	0.83501	0.5268	M	0.93283	3.4	0.47621	D	0.999473	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.91635	0.901;0.996;0.999	T	0.83334	-0.0011	10	0.21014	T	0.42	.	18.3643	0.90385	0.0:1.0:0.0:0.0	.	3222;3391;3351	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3351;3391;2661;3222;3321	ENSP00000345799:R3351H;ENSP00000297405:R3391H;ENSP00000341558:R2661H;ENSP00000412263:R3222H;ENSP00000343124:R3321H	ENSP00000297405:R3391H	R	-	2	0	CSMD3	113328475	0.983000	0.35010	0.259000	0.24435	0.524000	0.34500	7.562000	0.82300	2.649000	0.89929	0.460000	0.39030	CGC		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113259299	C	T	113259299	3	4	345	1	0	0	0	0	1	0	0	0	3946	768	27	1	983	1	CSMD3	8	113259299	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	27137829	113259299	33104723	36	18712											
ATAD2	29028	genome.wustl.edu	37	8	124357153	124357153	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:124357153C>G	ENST00000287394.5	-	19	2796	c.2689G>C	c.(2689-2691)Gac>Cac	p.D897H	RNU6-875P_ENST00000516488.1_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.D215H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	897					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGGGTTTGTCAGAAGTTGCA	0.378																																																0			8											100	98	98					8																	124357153		2203	4300	6503	124426334	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2689G>C	8.37:g.124357153C>G	ENSP00000287394:p.Asp897His		124426334	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321928	0.81580	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.81415	-1.49;-1.49	5.49	5.49	0.81192	.	0.338236	0.35407	N	0.003221	T	0.78457	0.4286	L	0.52364	1.645	0.38683	D	0.952598	B	0.31174	0.311	B	0.29524	0.103	T	0.79766	-0.1665	10	0.72032	D	0.01	-11.6957	19.3552	0.94410	0.0:1.0:0.0:0.0	.	897	Q6PL18	ATAD2_HUMAN	H	897;215	ENSP00000287394:D897H;ENSP00000429213:D215H	ENSP00000287394:D897H	D	-	1	0	ATAD2	124426334	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	5.759000	0.68785	2.576000	0.86940	0.591000	0.81541	GAC		0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		G	124357153	C	G	124357153	3	3	345	1	0	0	0	0	1	0	0	0	1071	826	29	3	1523	3	ATAD2	8	124357153	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	11097854	124357153	22006869	37	18713											
FAM135B	51059	genome.wustl.edu	37	8	139207548	139207548	+	Frame_Shift_Del	DEL	C	C	-	rs376071973		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr8:139207548delC	ENST00000395297.1	-	9	996	c.826delG	c.(826-828)gccfs	p.A276fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	276										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGCAAGGGCCTCTAGAAAG	0.403										HNSCC(54;0.14)																																						0			8											77	73	74					8																	139207548		1836	4085	5921	139276730	SO:0001589	frameshift_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.826delG	8.37:g.139207548delC	ENSP00000378710:p.Ala276fs		139276730	B5MDB3|O95879|Q2WGJ7|Q3KP46	Frame_Shift_Del	DEL	ENST00000395297.1	37	CCDS6375.2																																																																																				0.403	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		-	139207548	C	-	139207548	7	5	345	1	0	1	0	1	0	0	0	0	5449	739	26	0	3442	0	FAM135B	8	139207548	Frame_Shift_Del	DEL	C	TCGA-29-1770-01A-01W-0633-09	14850395	139207548	7156474	38	18714											
RFX3	5991	genome.wustl.edu	37	9	3225132	3225132	+	Silent	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr9:3225132G>A	ENST00000382004.3	-	18	2471	c.2160C>T	c.(2158-2160)ctC>ctT	p.L720L		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	720					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTGGATTCAGGAGGCTTGGTT	0.488																																																0			9											124	113	117					9																	3225132		2203	4300	6503	3215132	SO:0001819	synonymous_variant	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2160C>T	9.37:g.3225132G>A			3215132	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	CCDS6449.1																																																																																				0.488	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		A	3225132	G	A	3225132	2	1	345	1	0	0	0	0	0	0	0	1	13267	1161	41	2		2	RFX3	9	3225132	Silent	SNP	G	TCGA-29-1770-01A-01W-0633-09		3225132	137988299	39	18715											
MAMDC2	256691	genome.wustl.edu	37	9	72659130	72659130	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr9:72659130T>C	ENST00000377182.4	+	1	634	c.17T>C	c.(16-18)gTc>gCc	p.V6A		NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	6					peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTAAGGGGCGTCCTCCTGGCG	0.672																																																0			9											59	52	54					9																	72659130		2203	4300	6503	71848950	SO:0001583	missense	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.17T>C	9.37:g.72659130T>C	ENSP00000366387:p.Val6Ala		71848950	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.908713	0.52439	.	.	ENSG00000165072	ENST00000377182	T	0.02916	4.11	5.16	2.83	0.33086	.	1.549430	0.03378	N	0.199936	T	0.02767	0.0083	N	0.14661	0.345	0.28411	N	0.918167	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	10	0.66056	D	0.02	-3.8894	6.5204	0.22272	0.0:0.1885:0.0:0.8115	.	6	Q7Z304	MAMC2_HUMAN	A	6	ENSP00000366387:V6A	ENSP00000366387:V6A	V	+	2	0	MAMDC2	71848950	0.820000	0.29190	0.794000	0.32065	0.970000	0.65996	1.964000	0.40462	0.435000	0.26365	0.533000	0.62120	GTC		0.672	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		C	72659130	T	C	72659130	3	2	345	1	0	0	0	0	1	0	0	0	9203	1667	58	4	19	4	MAMDC2	9	72659130	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09	69433998	72659130	68554301	40	18716											
C9orf106	414318	genome.wustl.edu	37	9	132084431	132084431	+	RNA	DEL	C	C	-			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr9:132084431delC	ENST00000316786.1	+	0	392							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				ggcCTGGAGACCCTCAGGAAG	0.597																																																0			9											41	42	42					9																	132084431		2026	4193	6219	131124252			414318			AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084431delC			131124252		Frame_Shift_Del	DEL	ENST00000316786.1	37																																																																																					0.597	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2			-	132084431	C	-	132084431	6	5	345	0	1	1	0	1	0	0	0	0	2447	506	18	0		0	C9orf106	9	132084431	RNA	DEL	C	TCGA-29-1770-01A-01W-0633-09	59425301	132084431	9129000	41	18717											
LCN12	286256	genome.wustl.edu	37	9	139847372	139847372	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr9:139847372T>G	ENST00000371633.3	+	2	143	c.143T>G	c.(142-144)cTg>cGg	p.L48R		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	48					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTCCTGGGCCTGGCGGGCAAC	0.657																																																0			9											103	114	110					9																	139847372		2063	4195	6258	138967193	SO:0001583	missense	286256			BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"Lipocalins"	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.143T>G	9.37:g.139847372T>G	ENSP00000360696:p.Leu48Arg		138967193	A2AMJ7	Missense_Mutation	SNP	ENST00000371633.3	37	CCDS7018.2	.	.	.	.	.	.	.	.	.	.	T	14.23	2.471966	0.43942	.	.	ENSG00000184925	ENST00000371633	T	0.09163	3.01	4.14	4.14	0.48551	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.26983	N	0.021516	T	0.31796	0.0808	M	0.79475	2.455	0.35680	D	0.813992	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;1.0	T	0.44742	-0.9308	10	0.66056	D	0.02	-13.0014	11.3164	0.49394	0.0:0.0:0.0:1.0	.	48;48	Q8IW14;Q6JVE5	.;LCN12_HUMAN	R	48	ENSP00000360696:L48R	ENSP00000360696:L48R	L	+	2	0	LCN12	138967193	0.998000	0.40836	0.966000	0.40874	0.079000	0.17450	0.528000	0.23002	1.872000	0.54250	0.459000	0.35465	CTG		0.657	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		G	139847372	T	G	139847372	3	3	345	1	0	0	0	0	1	0	0	0	8682	1580	55	5	149	5	LCN12	9	139847372	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09	7762941	139847372	1366059	42	18718											
TUBB8	347688	genome.wustl.edu	37	10	93505	93505	+	Missense_Mutation	SNP	C	C	T	rs147114528	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr10:93505C>T	ENST00000309812.4	-	4	889	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.R204Q|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	276					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R276Q(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTGGCTGCCCCGGCTGGTCAG	0.627																																					Pancreas(192;2041 3010 9013 18103)											1	Substitution - Missense(1)	NS(1)	10											21	26	24					10																	93505		1645	3246	4891	83505	SO:0001583	missense	347688			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.827G>A	10.37:g.93505C>T	ENSP00000311042:p.Arg276Gln		83505	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301072	0.23650	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.80994	-1.44	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.094074	0.38326	N	0.001737	T	0.77046	0.4073	M	0.66560	2.04	0.28122	N	0.930544	B;P	0.44776	0.06;0.843	B;P	0.45167	0.009;0.472	T	0.71020	-0.4713	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	239;276	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	Q	204;242;239;276	ENSP00000403895:R204Q	ENSP00000272035:R242Q	R	-	2	0	RP11-631M21.2	83505	0.994000	0.37717	0.219000	0.23793	0.222000	0.24845	3.707000	0.54838	0.119000	0.18210	0.121000	0.15741	CGG		0.627	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		T	93505	C	T	93505	3	4	345	1	0	0	0	0	1	0	0	0	16761	652	23	1	511	1	TUBB8	10	93505	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09		93505	135441242	43	18719											
TUBAL3	79861	genome.wustl.edu	37	10	5436132	5436132	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr10:5436132G>T	ENST00000380419.3	-	4	726	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	TUBAL3_ENST00000479328.1_Missense_Mutation_p.S190Y	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	230					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCTGGCATGAGAGGGGCATTC	0.507																																																0			10											148	128	135					10																	5436132		2203	4300	6503	5426132	SO:0001583	missense	79861			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.689C>A	10.37:g.5436132G>T	ENSP00000369784:p.Ser230Tyr		5426132	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585410	0.28268	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.70986	-0.53;-0.53	4.2	4.2	0.49525	Tubulin/FtsZ, GTPase domain (4);	0.139357	0.33916	N	0.004433	D	0.84656	0.5520	M	0.85299	2.745	0.48236	D	0.999611	D;D	0.69078	0.989;0.997	P;D	0.69479	0.748;0.964	D	0.87765	0.2601	10	0.72032	D	0.01	.	16.0115	0.80406	0.0:0.0:1.0:0.0	.	190;230	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	Y	230;190	ENSP00000369784:S230Y;ENSP00000418799:S190Y	ENSP00000369784:S230Y	S	-	2	0	TUBAL3	5426132	1.000000	0.71417	0.568000	0.28447	0.011000	0.07611	9.531000	0.98054	2.292000	0.77174	0.650000	0.86243	TCT		0.507	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		T	5436132	G	T	5436132	3	4	345	1	0	0	0	0	1	0	0	0	16751	942	33	3	655	3	TUBAL3	10	5436132	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	5342627	5436132	130098615	44	18720											
DMBT1	1755	genome.wustl.edu	37	10	124395634	124395634	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr10:124395634A>C	ENST00000338354.3	+	50	6395	c.6289A>C	c.(6289-6291)Att>Ctt	p.I2097L	DMBT1_ENST00000368956.2_Missense_Mutation_p.I1469L|DMBT1_ENST00000368909.3_Missense_Mutation_p.I2097L|DMBT1_ENST00000330163.4_Missense_Mutation_p.I1469L|DMBT1_ENST00000368955.3_Missense_Mutation_p.I2087L|DMBT1_ENST00000344338.3_Missense_Mutation_p.I2087L|DMBT1_ENST00000359586.6_Missense_Mutation_p.I817L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2097	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)			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)				CTTCATGTCCATTCGCTTCAT	0.522																																					Ovarian(182;93 2026 18125 22222 38972)											0			10											93	91	92					10																	124395634		2007	4170	6177	124385624	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.6289A>C	10.37:g.124395634A>C	ENSP00000342210:p.Ile2097Leu		124385624	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	A	9.120	1.008833	0.19199	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.52	-8.49	0.00931	CUB (5);	2.194420	0.02502	N	0.090609	T	0.12305	0.0299	N	0.10629	0.01	0.09310	N	1	P;B;B;B;B;B;B	0.37207	0.587;0.356;0.225;0.042;0.225;0.225;0.267	B;B;B;B;B;B;B	0.34385	0.146;0.104;0.07;0.023;0.114;0.114;0.181	T	0.22452	-1.0216	10	0.45353	T	0.12	.	11.7777	0.51995	0.3104:0.0:0.5863:0.1033	.	817;2077;1346;2226;1469;2087;2097	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	L	2097;2226;2097;2097;2097;2096;1469;2087;1469;1469;2097;2087;1469;243;817	ENSP00000342210:I2097L;ENSP00000343175:I2087L;ENSP00000327747:I1469L;ENSP00000357905:I2097L;ENSP00000357951:I2087L;ENSP00000357952:I1469L;ENSP00000352593:I817L	ENSP00000331522:I1469L	I	+	1	0	DMBT1	124385624	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	-0.046000	0.11983	-1.609000	0.01585	-1.173000	0.01734	ATT		0.522	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		C	124395634	A	C	124395634	3	2	345	1	0	0	0	0	1	0	0	0	4577	217	8	5	6487	5	DMBT1	10	124395634	Missense_Mutation	SNP	A	TCGA-29-1770-01A-01W-0633-09	118959502	124395634	11139113	45	18721											
OR8I2	120586	genome.wustl.edu	37	11	55861623	55861623	+	Silent	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:55861623C>T	ENST00000302124.2	+	1	871	c.840C>T	c.(838-840)gtC>gtT	p.V280V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATACGATTGTCATTCCCATGC	0.393																																																0			11											56	55	56					11																	55861623		2201	4296	6497	55618199	SO:0001819	synonymous_variant	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.840C>T	11.37:g.55861623C>T			55618199	B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	CCDS31517.1																																																																																				0.393	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		T	55861623	C	T	55861623	2	4	345	1	0	0	0	0	0	0	0	1	11240	813	29	2		2	OR8I2	11	55861623	Silent	SNP	C	TCGA-29-1770-01A-01W-0633-09		55861623	79144893	46	18722											
TNKS1BP1	85456	genome.wustl.edu	37	11	57068382	57068382	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:57068382G>A	ENST00000532437.1	-	9	5416	c.5105C>T	c.(5104-5106)cCt>cTt	p.P1702L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1702L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1702	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGGCTTGGGAGGTAACGTGAG	0.562																																																0			11											152	134	140					11																	57068382		2201	4296	6497	56824958	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5105C>T	11.37:g.57068382G>A	ENSP00000437271:p.Pro1702Leu		56824958	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552082	0.86127	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	D;D	0.82711	-1.64;-1.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.89636	0.6772	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90535	0.4498	10	0.87932	D	0	-11.6166	15.8222	0.78662	0.0:0.0:1.0:0.0	.	1702;284	Q9C0C2;Q86TK2	TB182_HUMAN;.	L	1702	ENSP00000350990:P1702L;ENSP00000437271:P1702L	ENSP00000350990:P1702L	P	-	2	0	TNKS1BP1	56824958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.635000	0.67841	2.534000	0.85438	0.555000	0.69702	CCT		0.562	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		A	57068382	G	A	57068382	3	1	345	1	0	0	0	0	1	0	0	0	16320	1000	35	2	92	2	TNKS1BP1	11	57068382	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	1206759	57068382	77938134	47	18723											
ZP1	22917	genome.wustl.edu	37	11	60641187	60641187	+	Missense_Mutation	SNP	G	G	A	rs370756235		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:60641187G>A	ENST00000278853.5	+	9	1511	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	504	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACTACCAGCGATTCACTGTT	0.582																																																0			11						G	GLN/ARG	0,4406		0,0,2203	128	129	129		1511	5.2	0.9	11		129	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZP1	NM_207341.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	504/639	60641187	1,13003	2203	4299	6502	60397763	SO:0001583	missense	22917			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1511G>A	11.37:g.60641187G>A	ENSP00000278853:p.Arg504Gln		60397763		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202854	0.79127	0.0	1.16E-4	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.85171	-1.95	5.19	5.19	0.71726	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	M	0.91612	3.225	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	D	0.95308	0.8409	10	0.87932	D	0	-18.4257	18.3256	0.90252	0.0:0.0:1.0:0.0	.	504	P60852	ZP1_HUMAN	Q	504;211	ENSP00000278853:R504Q	ENSP00000278853:R504Q	R	+	2	0	ZP1	60397763	1.000000	0.71417	0.934000	0.37439	0.168000	0.22595	4.131000	0.57970	2.419000	0.82065	0.313000	0.20887	CGA		0.582	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		A	60641187	G	A	60641187	3	1	345	1	0	0	0	0	1	0	0	0	18215	1058	37	1	1545	1	ZP1	11	60641187	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	3572805	60641187	74365329	48	18724											
XRRA1	254225	genome.wustl.edu	37	11	74556251	74556251	+	IGR	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:74556251C>A	ENST00000299563.4	+	0	7823				RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000340360.6_Missense_Mutation_p.K590N|XRRA1_ENST00000321448.8_Missense_Mutation_p.K315N|XRRA1_ENST00000527087.1_Missense_Mutation_p.K503N	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TTGGTGGTTTCTTTTGGTCTT	0.493																																																0			11											90	99	96					11																	74556251		1959	4151	6110	74233899	SO:0001628	intergenic_variant	143570			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74556251C>A			74233899	Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964267	0.34659	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.52526	0.66;1.41;0.67	5.2	-0.353	0.12594	.	0.674315	0.14960	N	0.288404	T	0.32436	0.0829	L	0.29908	0.895	0.09310	N	1	B;P;P;P;P;P;P	0.47253	0.167;0.892;0.589;0.655;0.589;0.589;0.589	B;P;B;B;B;B;B	0.48189	0.016;0.57;0.229;0.422;0.173;0.173;0.086	T	0.13255	-1.0516	10	0.23302	T	0.38	-2.1848	1.1216	0.01726	0.1513:0.3524:0.1494:0.347	.	590;192;146;503;534;200;576	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	N	590;315;576;534;503	ENSP00000339918:K590N;ENSP00000319303:K315N;ENSP00000435838:K503N	ENSP00000319303:K315N	K	-	3	2	XRRA1	74233899	0.003000	0.15002	0.012000	0.15200	0.383000	0.30230	-0.974000	0.03794	-0.141000	0.11374	-0.140000	0.14226	AAG		0.493	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		A	74556251	C	A	74556251	1	1	345	0	1	0	0	0	0	0	0	0	17461	912	32	3		3	XRRA1	11	74556251	IGR	SNP	C	TCGA-29-1770-01A-01W-0633-09	13915064	74556251	60450265	49	18725											
ZC3H12C	85463	genome.wustl.edu	37	11	110035370	110035370	+	Silent	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:110035370C>G	ENST00000278590.3	+	6	1611	c.1560C>G	c.(1558-1560)tcC>tcG	p.S520S	ZC3H12C_ENST00000453089.2_Silent_p.S489S|ZC3H12C_ENST00000528673.1_Silent_p.S521S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	520							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTGTACCTTCCTTAGTTAGCA	0.438																																																0			11											110	106	108					11																	110035370		1900	4113	6013	109540580	SO:0001819	synonymous_variant	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1560C>G	11.37:g.110035370C>G			109540580	B4DI65|B4DR47	Silent	SNP	ENST00000278590.3	37	CCDS44727.1																																																																																				0.438	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		G	110035370	C	G	110035370	2	3	345	1	0	0	0	0	0	0	0	1	17563	668	24	3		3	ZC3H12C	11	110035370	Silent	SNP	C	TCGA-29-1770-01A-01W-0633-09	35479119	110035370	24971146	50	18726											
USP2	9099	genome.wustl.edu	37	11	119243866	119243866	+	Missense_Mutation	SNP	C	C	T	rs141117796	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr11:119243866C>T	ENST00000260187.2	-	2	619	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	109	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CCGCTGCCCCCGCTGAGGCCA	0.642													C|||	5	0.000998403	0	0	5008	,	,		16663	0.005		0	False		,,,				2504	0															0			11						C	ARG/GLY	0,4398		0,0,2199	82	91	88		325	5.2	1	11	dbSNP_134	88	1,8589	1.2+/-3.3	0,1,4294	yes	missense	USP2	NM_004205.4	125	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	109/606	119243866	1,12987	2199	4295	6494	118749076	SO:0001583	missense	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.325G>A	11.37:g.119243866C>T	ENSP00000260187:p.Gly109Arg		118749076	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.68	3.873267	0.72180	0.0	1.16E-4	ENSG00000036672	ENST00000260187;ENST00000530918;ENST00000531070;ENST00000527843	T	0.26518	1.73	5.22	5.22	0.72569	.	0.356981	0.18810	U	0.130542	T	0.41926	0.1180	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30149	-0.9988	10	0.87932	D	0	-5.342	15.9359	0.79707	0.0:1.0:0.0:0.0	.	109	O75604	UBP2_HUMAN	R	109;79;109;109	ENSP00000260187:G109R	ENSP00000260187:G109R	G	-	1	0	USP2	118749076	0.998000	0.40836	0.999000	0.59377	0.934000	0.57294	5.512000	0.67030	2.426000	0.82243	0.561000	0.74099	GGG		0.642	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		T	119243866	C	T	119243866	3	4	345	1	0	0	0	0	1	0	0	0	17051	652	23	1	1691	1	USP2	11	119243866	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	9208496	119243866	15762650	51	18727											
TNFRSF1A	7132	genome.wustl.edu	37	12	6438478	6438478	+	Nonstop_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr12:6438478T>A	ENST00000162749.2	-	10	1667	c.1368A>T	c.(1366-1368)tgA>tgT	p.*456C	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Nonstop_Mutation_p.*413C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	0					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGGCGCAGCCTCATCTGAGAA	0.677																																																0			12											10	13	12					12																	6438478		1816	3702	5518	6308739	SO:0001578	stop_lost	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1368A>T	12.37:g.6438478T>A			6308739	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Nonstop_Mutation	SNP	ENST00000162749.2	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.718840	0.30503	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	.	.	.	4.69	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.30965	N	0.723161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3794	0.26847	0.194:0.0:0.0:0.806	.	.	.	.	C	456;413	.	.	X	-	3	0	TNFRSF1A	6308739	0.597000	0.26874	0.104000	0.21259	0.007000	0.05969	1.536000	0.36072	0.784000	0.33661	0.459000	0.35465	TGA		0.677	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		A	6438478	T	A	6438478	4	1	345	1	0	0	0	0	0	0	0	0	16293	1564	54	5	3	5	TNFRSF1A	12	6438478	Nonstop_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09		6438478	127413417	52	18728											
LRMP	4033	genome.wustl.edu	37	12	25257309	25257309	+	Nonsense_Mutation	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr12:25257309C>G	ENST00000354454.3	+	19	1890	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	LRMP_ENST00000547044.1_Nonsense_Mutation_p.S354*|LRMP_ENST00000548766.1_Nonsense_Mutation_p.S354*	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	410	Poly-Asp.				immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ATTTTGGGGTCAAAGCAGAGT	0.373																																																0			12											124	113	117					12																	25257309		2203	4300	6503	25148576	SO:0001587	stop_gained	4033				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.1061C>G	12.37:g.25257309C>G	ENSP00000346442:p.Ser354*		25148576	A0AVM2|B4E077|Q8N301	Nonsense_Mutation	SNP	ENST00000354454.3	37	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	C	43	10.503517	0.99417	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	.	.	.	5.47	5.47	0.80525	.	0.914335	0.09327	N	0.817412	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-10.1773	17.9082	0.88926	0.0:1.0:0.0:0.0	.	.	.	.	X	354;301;354;354	.	ENSP00000346442:S354X	S	+	2	0	LRMP	25148576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.150000	0.50662	2.542000	0.85734	0.650000	0.86243	TCA		0.373	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		G	25257309	C	G	25257309	4	3	345	1	0	0	0	0	0	1	0	0	8950	838	29	3	1119	3	LRMP	12	25257309	Nonsense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	18818831	25257309	108594586	53	18729											
SLITRK5	26050	genome.wustl.edu	37	13	88329588	88329588	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr13:88329588C>T	ENST00000325089.6	+	2	2164	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P408S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	649					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CACCGGGGCCCCCGCGAGCTT	0.627																																																0			13											66	72	70					13																	88329588		2203	4300	6503	87127589	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1945C>T	13.37:g.88329588C>T	ENSP00000366283:p.Pro649Ser		87127589	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839078	0.32513	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59083	0.29;0.63	4.94	4.02	0.46733	.	0.285503	0.25037	N	0.033623	T	0.43809	0.1264	L	0.32530	0.975	0.32556	N	0.531781	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47142	-0.9140	9	.	.	.	-5.9868	12.2541	0.54615	0.1801:0.8199:0.0:0.0	.	408;649	B4DSH5;O94991	.;SLIK5_HUMAN	S	649;408	ENSP00000366283:P649S;ENSP00000442244:P408S	.	P	+	1	0	SLITRK5	87127589	0.000000	0.05858	0.998000	0.56505	0.379000	0.30106	0.151000	0.16283	2.554000	0.86153	0.555000	0.69702	CCC		0.627	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			T	88329588	C	T	88329588	3	4	345	1	0	0	0	0	1	0	0	0	14749	623	22	2	1947	2	SLITRK5	13	88329588	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09		88329588	26840290	54	18730											
ACIN1	22985	genome.wustl.edu	37	14	23549131	23549131	+	Silent	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:23549131G>A	ENST00000262710.1	-	6	1914	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	ACIN1_ENST00000605057.1_Silent_p.L471L|ACIN1_ENST00000555053.1_Silent_p.L529L|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Silent_p.L489L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	529					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTTTAGAGGGAGGGGCTGAG	0.483																																																0			14											120	128	125					14																	23549131		2203	4300	6503	22618971	SO:0001819	synonymous_variant	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1587C>T	14.37:g.23549131G>A			22618971	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	CCDS9587.1																																																																																				0.483	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		A	23549131	G	A	23549131	2	1	345	1	0	0	0	0	0	0	0	1	142	1161	41	2		2	ACIN1	14	23549131	Silent	SNP	G	TCGA-29-1770-01A-01W-0633-09		23549131	83800409	55	18731											
ESR2	2100	genome.wustl.edu	37	14	64735513	64735513	+	Splice_Site	SNP	C	C	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:64735513C>A	ENST00000341099.4	-	4	1069	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C	ESR2_ENST00000553796.1_Splice_Site_p.G218C|ESR2_ENST00000357782.2_Splice_Site_p.G218C|ESR2_ENST00000542956.1_Splice_Site_p.G218C|ESR2_ENST00000554572.1_Splice_Site_p.G218C|ESR2_ENST00000555278.1_Splice_Site_p.G218C|ESR2_ENST00000557772.1_Splice_Site_p.G218C|ESR2_ENST00000267525.6_Splice_Site_p.G218C|ESR2_ENST00000353772.3_Splice_Site_p.G218C|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Splice_Site_p.G218C	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	218	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AAGCACTCACCACACTTCACC	0.502																																																0			14											119	112	114					14																	64735513		2203	4300	6503	63805266	SO:0001630	splice_region_variant	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.652+1G>T	14.37:g.64735513C>A			63805266	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133022	0.94517	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.67	5.67	0.87782	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.928;0.976;0.987;0.971	D	0.99253	1.0888	9	.	.	.	.	19.7793	0.96412	0.0:1.0:0.0:0.0	.	218;218;218;218;218	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	C	218	ENSP00000452485:G218C;ENSP00000441792:G218C;ENSP00000450699:G218C;ENSP00000335551:G218C;ENSP00000351412:G218C;ENSP00000450488:G218C;ENSP00000452426:G218C;ENSP00000350427:G218C;ENSP00000451582:G218C;ENSP00000343925:G218C;ENSP00000267525:G218C	.	G	-	1	0	ESR2	63805266	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.731000	0.84895	2.678000	0.91216	0.555000	0.69702	GGC		0.502	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1		Missense_Mutation	A	64735513	C	A	64735513	5	1	345	1	0	0	0	0	0	0	1	0	5257	608	21	3	1050	3	ESR2	14	64735513	Splice_Site	SNP	C	TCGA-29-1770-01A-01W-0633-09	41186382	64735513	42614027	56	18732											
COX8C	341947	genome.wustl.edu	37	14	93814428	93814428	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:93814428T>C	ENST00000342144.2	+	2	259	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	61						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		ACCAGCTGCATATGTGCTAGG	0.438																																					GBM(134;630 1800 8342 13106 15419)											0			14											168	126	140					14																	93814428		2203	4300	6503	92884181	SO:0001583	missense	341947			AY161004	CCDS9910.1	14q32.13	2011-07-04	2011-05-25			ENSG00000187581		"Mitochondrial respiratory chain complex / Complex IV"	24382	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit VIII isoform 3"		"cytochrome c oxidase subunit 8C"			12909344	Standard	NM_182971		Approved	COX8-3	uc001ybt.1	Q7Z4L0		ENST00000342144.2:c.181T>C	14.37:g.93814428T>C	ENSP00000340568:p.Tyr61His		92884181	Q495K7	Missense_Mutation	SNP	ENST00000342144.2	37	CCDS9910.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566803	0.28003	.	.	ENSG00000187581	ENST00000342144	.	.	.	3.66	3.66	0.41972	Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX (1);	.	.	.	.	T	0.63604	0.2525	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.51268	-0.8727	7	0.87932	D	0	.	8.9841	0.35983	0.0:0.0:0.0:1.0	.	61	Q7Z4L0	COX8C_HUMAN	H	61	.	ENSP00000340568:Y61H	Y	+	1	0	COX8C	92884181	0.041000	0.20044	0.011000	0.14972	0.001000	0.01503	2.685000	0.46959	1.897000	0.54924	0.454000	0.30748	TAT		0.438	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412769.1	NM_182971		C	93814428	T	C	93814428	3	2	345	1	0	0	0	0	1	0	0	0	3786	1406	49	4	187	4	COX8C	14	93814428	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09	29078915	93814428	13535112	57	18733											
PPP4R4	57718	genome.wustl.edu	37	14	94712791	94712791	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:94712791A>T	ENST00000304338.3	+	14	1680	c.1526A>T	c.(1525-1527)aAa>aTa	p.K509I		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	509					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CTACTTCAGAAATATGCCTGC	0.428																																																0			14											109	107	108					14																	94712791		2203	4300	6503	93782544	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1526A>T	14.37:g.94712791A>T	ENSP00000305924:p.Lys509Ile		93782544	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.574755	0.65878	.	.	ENSG00000119698	ENST00000304338	T	0.27402	1.67	5.78	3.36	0.38483	Armadillo-like helical (1);Armadillo-type fold (1);	0.347798	0.37219	N	0.002184	T	0.31513	0.0799	L	0.54323	1.7	0.80722	D	1	P	0.46784	0.884	P	0.44990	0.466	T	0.03795	-1.1003	10	0.59425	D	0.04	-17.3137	8.6301	0.33915	0.8024:0.1305:0.0671:0.0	.	509	Q6NUP7	PP4R4_HUMAN	I	509	ENSP00000305924:K509I	ENSP00000305924:K509I	K	+	2	0	PPP4R4	93782544	1.000000	0.71417	0.956000	0.39512	0.920000	0.55202	3.248000	0.51430	0.507000	0.28148	0.533000	0.62120	AAA		0.428	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		T	94712791	A	T	94712791	3	4	345	1	0	0	0	0	1	0	0	0	12408	14	1	5	1653	5	PPP4R4	14	94712791	Missense_Mutation	SNP	A	TCGA-29-1770-01A-01W-0633-09	898363	94712791	12636749	58	18734											
BDKRB2	624	genome.wustl.edu	37	14	96707140	96707140	+	Silent	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr14:96707140C>T	ENST00000306005.3	+	3	671	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	BDKRB2_ENST00000554311.1_Silent_p.L159L|BDKRB2_ENST00000542454.2_Silent_p.L132L|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.L132L	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	159					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTACCTGGCCCTGGTGAAAAC	0.597																																																0			14											107	108	108					14																	96707140		2203	4300	6503	95776893	SO:0001819	synonymous_variant	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.475C>T	14.37:g.96707140C>T			95776893		Silent	SNP	ENST00000306005.3	37	CCDS9942.1																																																																																				0.597	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			T	96707140	C	T	96707140	2	4	345	1	0	0	0	0	0	0	0	1	1393	680	24	2		2	BDKRB2	14	96707140	Silent	SNP	C	TCGA-29-1770-01A-01W-0633-09	1994349	96707140	10642400	59	18735											
SPG11	80208	genome.wustl.edu	37	15	44888516	44888516	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr15:44888516T>G	ENST00000261866.7	-	25	4215	c.4199A>C	c.(4198-4200)cAa>cCa	p.Q1400P	SPG11_ENST00000558319.1_Missense_Mutation_p.Q1400P|SPG11_ENST00000535302.2_Missense_Mutation_p.Q1400P|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1400P	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1400					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TAAGTGGTCTTGAATGACTGG	0.458																																																0			15											82	80	80					15																	44888516		2198	4298	6496	42675808	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4199A>C	15.37:g.44888516T>G	ENSP00000261866:p.Gln1400Pro		42675808	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089699	0.36855	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.80123	-1.34;-1.34;-1.34	5.45	4.34	0.51931	.	0.254315	0.40222	N	0.001153	D	0.86285	0.5896	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.71656	0.974;0.956;0.972	D	0.86653	0.1899	10	0.72032	D	0.01	.	7.5683	0.27892	0.0:0.1528:0.0:0.8472	.	1400;1400;1400	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	P	1400	ENSP00000261866:Q1400P;ENSP00000445278:Q1400P;ENSP00000396110:Q1400P	ENSP00000261866:Q1400P	Q	-	2	0	SPG11	42675808	1.000000	0.71417	0.997000	0.53966	0.177000	0.22998	2.179000	0.42528	2.061000	0.61500	0.533000	0.62120	CAA		0.458	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			G	44888516	T	G	44888516	3	3	345	1	0	0	0	0	1	0	0	0	15043	1812	63	5	3196	5	SPG11	15	44888516	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09		44888516	57642876	60	18736											
MYO9A	4649	genome.wustl.edu	37	15	72170417	72170417	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr15:72170417C>T	ENST00000356056.5	-	31	6367	c.5895G>A	c.(5893-5895)atG>atA	p.M1965I	MYO9A_ENST00000424560.1_Missense_Mutation_p.M2036I|MYO9A_ENST00000444904.1_Missense_Mutation_p.M1946I|MYO9A_ENST00000564571.1_Missense_Mutation_p.M1965I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1965	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGAATTCATTCATATATTCAT	0.348																																																0			15											71	73	73					15																	72170417		2199	4297	6496	69957471	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5895G>A	15.37:g.72170417C>T	ENSP00000348349:p.Met1965Ile		69957471	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367239	0.61513	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.25085	1.82;1.82;1.82	5.21	5.21	0.72293	.	.	.	.	.	T	0.33411	0.0862	L	0.42581	1.335	0.47214	D	0.999351	P;P	0.52692	0.955;0.754	P;B	0.51974	0.686;0.104	T	0.01283	-1.1396	9	0.38643	T	0.18	.	14.6993	0.69145	0.0:0.8551:0.1449:0.0	.	2036;1965	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	I	1965;2036;1946	ENSP00000348349:M1965I;ENSP00000399162:M2036I;ENSP00000398250:M1946I	ENSP00000348349:M1965I	M	-	3	0	MYO9A	69957471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.632000	0.67819	2.567000	0.86603	0.591000	0.81541	ATG		0.348	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		T	72170417	C	T	72170417	3	4	345	1	0	0	0	0	1	0	0	0	10084	826	29	2	1799	2	MYO9A	15	72170417	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	27281901	72170417	30360975	61	18737											
IFT140	9742	genome.wustl.edu	37	16	1633336	1633336	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr16:1633336C>G	ENST00000426508.2	-	12	1774	c.1411G>C	c.(1411-1413)Gga>Cga	p.G471R	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	471					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATCGCGGCTCCAGAAAGCTCG	0.567																																																0			16											88	71	77					16																	1633336		2199	4300	6499	1573337	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1411G>C	16.37:g.1633336C>G	ENSP00000406012:p.Gly471Arg		1573337	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	9.616	1.132480	0.21041	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.70282	-0.47	5.48	5.48	0.80851	.	0.057687	0.64402	D	0.000001	T	0.81959	0.4933	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.67145	0.982;0.996	P;D	0.66716	0.813;0.946	T	0.82159	-0.0595	10	0.49607	T	0.09	.	16.5088	0.84279	0.0:1.0:0.0:0.0	.	471;196	Q96RY7;B4DR58	IF140_HUMAN;.	R	471	ENSP00000406012:G471R	ENSP00000380562:G471R	G	-	1	0	IFT140	1573337	1.000000	0.71417	0.943000	0.38184	0.003000	0.03518	6.728000	0.74769	2.567000	0.86603	0.655000	0.94253	GGA		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		G	1633336	C	G	1633336	3	3	345	1	0	0	0	0	1	0	0	0	7556	603	21	3	3057	3	IFT140	16	1633336	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09		1633336	88721417	62	18738											
ELMO3	1874	genome.wustl.edu	37	16	67233262	67233262	+	IGR	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr16:67233262C>T	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Silent_p.A64A|ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000360833.1_Silent_p.A64A|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TGAAGATTGCCATCAAGATGC	0.682																																																0			16											31	39	37					16																	67233262		2109	4223	6332	65790763	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233262C>T			65790763	A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	37	CCDS32464.1																																																																																				0.682	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		T	67233262	C	T	67233262	1	4	345	0	1	0	0	0	0	0	0	0	5067	581	21	2		2	ELMO3	16	67233262	IGR	SNP	C	TCGA-29-1770-01A-01W-0633-09	65599926	67233262	23121491	63	18739											
HYDIN	54768	genome.wustl.edu	37	16	71059322	71059322	+	Silent	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr16:71059322C>T	ENST00000393567.2	-	21	3300	c.3150G>A	c.(3148-3150)caG>caA	p.Q1050Q	HYDIN_ENST00000448089.2_Intron	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1050					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGTGGAGAGCTGGATGAGAG	0.552																																																0			16											1	1	1					16																	71059322		97	279	376	69616823	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3150G>A	16.37:g.71059322C>T			69616823	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71059322	C	T	71059322	2	4	345	1	0	0	0	0	0	0	0	1	7467	796	28	2		2	HYDIN	16	71059322	Silent	SNP	C	TCGA-29-1770-01A-01W-0633-09	3826060	71059322	19295431	64	18740											
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	345	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09		7578190	73617020	65	18741											
ARHGEF15	22899	genome.wustl.edu	37	17	8218746	8218746	+	Silent	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:8218746G>T	ENST00000361926.3	+	7	1385	c.1275G>T	c.(1273-1275)gtG>gtT	p.V425V	ARHGEF15_ENST00000421050.1_Silent_p.V425V|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	425	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TTTTCGAGGTGGTGACGTCCG	0.632																																																0			17											140	134	136					17																	8218746		2203	4300	6503	8159471	SO:0001819	synonymous_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1275G>T	17.37:g.8218746G>T			8159471	A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	CCDS11139.1																																																																																				0.632	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		T	8218746	G	T	8218746	2	4	345	1	0	0	0	0	0	0	0	1	898	1335	47	3		3	ARHGEF15	17	8218746	Silent	SNP	G	TCGA-29-1770-01A-01W-0633-09	640556	8218746	72976464	66	18742											
RAB34	83871	genome.wustl.edu	37	17	27043021	27043021	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:27043021G>T	ENST00000395245.3	-	3	828	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	RAB34_ENST00000453384.3_Missense_Mutation_p.L126I|RAB34_ENST00000395243.3_Missense_Mutation_p.L68I|RAB34_ENST00000395242.2_Missense_Mutation_p.L69I|RAB34_ENST00000415040.2_Intron|RAB34_ENST00000450529.1_Missense_Mutation_p.L68I|RAB34_ENST00000447716.1_Missense_Mutation_p.L125I|RAB34_ENST00000436730.3_Missense_Mutation_p.L68I|RAB34_ENST00000301043.6_Missense_Mutation_p.L68I	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	68					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTATTAATGAGGCAAGTCTTC	0.582																																					Pancreas(175;216 2049 29940 32498 41589)											0			17											79	79	79					17																	27043021		2203	4300	6503	24067148	SO:0001583	missense	83871			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"RAB, member RAS oncogene"	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.202C>A	17.37:g.27043021G>T	ENSP00000378666:p.Leu68Ile		24067148	B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246988	0.39697	.	.	ENSG00000109113	ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676	D;D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.92	5.92	0.95590	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	L	0.28115	0.83	0.43724	D	0.996200	D;D;D;D;D;D	0.89917	0.999;0.966;1.0;0.988;0.972;1.0	D;P;D;D;P;D	0.87578	0.998;0.822;0.998;0.951;0.823;0.998	D	0.90883	0.4755	9	0.87932	D	0	-20.3291	12.2515	0.54601	0.0777:0.0:0.9223:0.0	.	126;68;91;91;69;68	E7ES60;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1	.;.;.;.;.;RAB34_HUMAN	I	126;125;68;68;91;69;68;91;69;68;68	ENSP00000413156:L126I;ENSP00000410403:L125I;ENSP00000301043:L68I;ENSP00000378664:L68I;ENSP00000378663:L69I;ENSP00000378666:L68I;ENSP00000398706:L68I;ENSP00000226259:L68I	ENSP00000301043:L68I	L	-	1	0	RAB34	24067148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.559000	0.53756	2.812000	0.96745	0.563000	0.77884	CTC		0.582	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		T	27043021	G	T	27043021	3	4	345	1	0	0	0	0	1	0	0	0	12927	1000	35	3	673	3	RAB34	17	27043021	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	18824275	27043021	54152189	67	18743											
PSMC3IP	29893	genome.wustl.edu	37	17	40725173	40725173	+	Silent	SNP	C	C	G	rs146962353		TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:40725173C>G	ENST00000393795.3	-	7	657	c.549G>C	c.(547-549)ctG>ctC	p.L183L	MLX_ENST00000246912.4_3'UTR|MLX_ENST00000435881.2_3'UTR|MLX_ENST00000346833.4_3'UTR|PSMC3IP_ENST00000587209.1_Silent_p.L120L|PSMC3IP_ENST00000590760.1_Silent_p.L58L|PSMC3IP_ENST00000253789.5_Silent_p.L171L	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	183					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TTGCATCAGACAGCTCTGTAG	0.478																																																0			17											124	120	121					17																	40725173		2203	4300	6503	37978699	SO:0001819	synonymous_variant	29893			AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"Proteasome (prosome, macropain) subunits"	17928	protein-coding gene	gene with protein product	"TBP-1 interacting protein"	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.549G>C	17.37:g.40725173C>G			37978699	C5ILB7|Q14458|Q8WXG2|Q96HA2	Missense_Mutation	SNP	ENST00000393795.3	37	CCDS45688.1																																																																																				0.478	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450427.1	NM_013290		G	40725173	C	G	40725173	2	3	345	1	0	0	0	0	0	0	0	1	12691	465	17	3		3	PSMC3IP	17	40725173	Silent	SNP	C	TCGA-29-1770-01A-01W-0633-09	13682152	40725173	40470037	68	18744											
RNF213	57674	genome.wustl.edu	37	17	78332203	78332203	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr17:78332203T>A	ENST00000582970.1	+	37	11121	c.10978T>A	c.(10978-10980)Tgg>Agg	p.W3660R	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.W1733R|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.W3709R	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3660					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TACTCCGCCCTGGGCAAGAGA	0.493																																																0			17											106	89	95					17																	78332203		2203	4300	6503	75946798	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10978T>A	17.37:g.78332203T>A	ENSP00000464087:p.Trp3660Arg		75946798	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907680	0.72868	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24723	1.84	5.58	5.58	0.84498	.	0.286203	0.35495	N	0.003175	T	0.53594	0.1806	M	0.82323	2.585	0.30529	N	0.767591	D;D	0.89917	1.0;0.98	D;P	0.76575	0.988;0.694	T	0.61729	-0.7003	10	0.52906	T	0.07	.	13.9784	0.64287	0.0:0.0:0.0:1.0	.	3709;1733	C9JCP4;Q63HN8	.;RN213_HUMAN	R	3660;3709;1733	ENSP00000338218:W1733R	ENSP00000338218:W1733R	W	+	1	0	RNF213	75946798	0.999000	0.42202	1.000000	0.80357	0.875000	0.50365	3.318000	0.51975	2.111000	0.64477	0.519000	0.50382	TGG		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78332203	T	A	78332203	3	1	345	1	0	0	0	0	1	0	0	0	13480	1580	55	5	11439	5	RNF213	17	78332203	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09	37607030	78332203	2863007	69	18745											
MUC16	94025	genome.wustl.edu	37	19	9074909	9074909	+	Silent	SNP	T	T	C			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:9074909T>C	ENST00000397910.4	-	3	12740	c.12537A>G	c.(12535-12537)caA>caG	p.Q4179Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4181	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTGCCCTTGTGATGTCA	0.522																																																0			19											148	139	141					19																	9074909		1988	4155	6143	8935909	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12537A>G	19.37:g.9074909T>C			8935909	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9074909	T	C	9074909	2	2	345	1	0	0	0	0	0	0	0	1	9973	1606	56	4		4	MUC16	19	9074909	Silent	SNP	T	TCGA-29-1770-01A-01W-0633-09		9074909	50054074	70	18746											
FARSA	2193	genome.wustl.edu	37	19	13034963	13034963	+	Splice_Site	SNP	A	A	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:13034963A>T	ENST00000314606.4	-	12	1407		c.e12+1		FARSA_ENST00000588025.1_Splice_Site|FARSA_ENST00000423140.2_Splice_Site	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit						gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TTGGGCACTTACCGCTCCAGG	0.592																																																0			19											54	57	56					19																	13034963		2203	4300	6503	12895963	SO:0001630	splice_region_variant	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1388+1T>A	19.37:g.13034963A>T			12895963	B4E363|Q9NSD8|Q9Y4W8	Splice_Site	SNP	ENST00000314606.4	37	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617545	0.87359	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5203	0.61563	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FARSA	12895963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.696000	0.91302	1.897000	0.54924	0.533000	0.62120	.		0.592	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461	Intron	T	13034963	A	T	13034963	5	4	345	1	0	0	0	0	0	0	1	0	5679	405	14	5	144	5	FARSA	19	13034963	Splice_Site	SNP	A	TCGA-29-1770-01A-01W-0633-09	3960054	13034963	46094020	71	18747											
LTBP4	8425	genome.wustl.edu	37	19	41129517	41129517	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:41129517G>A	ENST00000308370.7	+	29	3763	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.E623K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E1218K|LTBP4_ENST00000396819.3_Missense_Mutation_p.E1188K	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1256	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACGTGGACGAATGTCAGCT	0.577																																																0			19											69	72	71					19																	41129517		2097	4232	6329	45821357	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3763G>A	19.37:g.41129517G>A	ENSP00000311905:p.Glu1255Lys		45821357	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	G	22.7	4.319186	0.81469	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	3.84	3.84	0.44239	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.213980	0.23118	U	0.051724	D	0.99045	0.9673	.	.	.	0.58432	D	0.999991	D;D;B;P;P;P	0.89917	1.0;1.0;0.355;0.739;0.873;0.873	D;D;B;B;B;B	0.83275	0.996;0.996;0.066;0.195;0.183;0.183	D	0.99470	1.0945	9	0.87932	D	0	.	14.6413	0.68726	0.0:0.0:1.0:0.0	.	16;268;476;1188;1256;1218	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	K	1218;623;1255;1188;16	ENSP00000204005:E1218K;ENSP00000441054:E623K;ENSP00000311905:E1255K;ENSP00000380031:E1188K	ENSP00000204005:E1218K	E	+	1	0	LTBP4	45821357	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	9.301000	0.96167	1.972000	0.57404	0.313000	0.20887	GAA		0.577	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		A	41129517	G	A	41129517	3	1	345	1	0	0	0	0	1	0	0	0	9076	1059	37	1	4168	1	LTBP4	19	41129517	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	28094554	41129517	17999466	72	18748											
ARHGEF1	9138	genome.wustl.edu	37	19	42409966	42409966	+	Silent	SNP	G	G	A	rs149372116	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:42409966G>A	ENST00000354532.3	+	25	2539	c.2391G>A	c.(2389-2391)acG>acA	p.T797T	CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000347545.4_Silent_p.T764T|ARHGEF1_ENST00000337665.4_Silent_p.T812T|ARHGEF1_ENST00000378152.4_Silent_p.T779T|ARHGEF1_ENST00000599846.1_Silent_p.T853T	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	797					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCGAGAGACGTCTCCAGCTG	0.662													G|||	3	0.000599042	8e-04	0	5008	,	,		18733	0		0.002	False		,,,				2504	0															0			19							,,	1,4405	2.1+/-5.4	0,1,2202	63	58	59		2391,2292,2436	-1.4	0.1	19	dbSNP_134	59	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF1	NM_004706.3,NM_198977.1,NM_199002.1	,,	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	,,	797/913,764/880,812/928	42409966	6,13000	2203	4300	6503	47101806	SO:0001819	synonymous_variant	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2391G>A	19.37:g.42409966G>A			47101806	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	CCDS12591.1																																																																																				0.662	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		A	42409966	G	A	42409966	2	1	345	1	0	0	0	0	0	0	0	1	893	1132	40	1		1	ARHGEF1	19	42409966	Silent	SNP	G	TCGA-29-1770-01A-01W-0633-09	1280449	42409966	16719017	73	18749											
PNMAL2	57469	genome.wustl.edu	37	19	46997544	46997544	+	Intron	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:46997544C>T	ENST00000377655.2	-	1	734				AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000599531.1_Silent_p.A393A|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCTCGCGGCCCGCCTCTTCCA	0.667																																																0			19											14	16	15					19																	46997544		1916	4069	5985	51689384	SO:0001627	intron_variant	0			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+444G>A	19.37:g.46997544C>T			51689384	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37																																																																																					0.667	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		T	46997544	C	T	46997544	1	4	345	0	1	0	0	0	0	0	0	0	12158	639	23	1		1	PNMAL2	19	46997544	Intron	SNP	C	TCGA-29-1770-01A-01W-0633-09	4587578	46997544	12131439	74	18750											
SIGLEC8	27181	genome.wustl.edu	37	19	51958744	51958744	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr19:51958744T>A	ENST00000321424.3	-	4	1045	c.979A>T	c.(979-981)Acc>Tcc	p.T327S	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.T218S|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.T234S|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	327	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTCGGCAGGTGAATTCCCCT	0.647																																																0			19											58	55	56					19																	51958744		2203	4300	6503	56650556	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.979A>T	19.37:g.51958744T>A	ENSP00000321077:p.Thr327Ser		56650556	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.044889	0.36085	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.15487	2.42;2.42;2.42	2.19	-0.0352	0.13893	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38837	N	0.001550	T	0.33644	0.0870	M	0.81179	2.53	0.09310	N	1	P;D;D	0.63046	0.843;0.992;0.988	P;D;D	0.68621	0.56;0.959;0.934	T	0.09271	-1.0682	10	0.62326	D	0.03	.	4.5202	0.11956	0.0:0.3361:0.0:0.6639	.	218;234;327	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	S	218;327;234	ENSP00000389142:T218S;ENSP00000321077:T327S;ENSP00000339448:T234S	ENSP00000321077:T327S	T	-	1	0	SIGLEC8	56650556	0.000000	0.05858	0.002000	0.10522	0.153000	0.21895	-1.582000	0.02117	-0.084000	0.12595	0.411000	0.27672	ACC		0.647	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		A	51958744	T	A	51958744	3	1	345	1	0	0	0	0	1	0	0	0	14317	1696	59	5	536	5	SIGLEC8	19	51958744	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09	4961200	51958744	7170239	75	18751											
C20orf112	140688	genome.wustl.edu	37	20	31043994	31043994	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:31043994G>A	ENST00000359676.5	-	3	456	c.314C>T	c.(313-315)tCc>tTc	p.S105F	C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		105						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CGAGGGGTAGGAGGCTGTGCC	0.687																																																0			20											57	58	57					20																	31043994		2202	4298	6500	30507655	SO:0001583	missense	140688																														ENST00000359676.5:c.314C>T	20.37:g.31043994G>A	ENSP00000352704:p.Ser105Phe		30507655	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932118	0.52866	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	5.15	4.18	0.49190	.	0.760161	0.12248	N	0.485887	T	0.54303	0.1850	L	0.39898	1.24	0.80722	D	1	P	0.40794	0.729	B	0.41946	0.371	T	0.53129	-0.8482	9	0.52906	T	0.07	-4.7306	14.604	0.68463	0.0:0.1468:0.8532:0.0	.	105	Q96MY1	CT112_HUMAN	F	105	.	ENSP00000352704:S105F	S	-	2	0	C20orf112	30507655	1.000000	0.71417	0.744000	0.31058	0.169000	0.22640	5.169000	0.64984	1.129000	0.42072	0.561000	0.74099	TCC		0.687	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			A	31043994	G	A	31043994	3	1	345	1	0	0	0	0	1	0	0	0	2081	1174	41	2	1020	2	C20orf112	20	31043994	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09		31043994	31981526	76	18752											
C20orf185	359710	genome.wustl.edu	37	20	31661398	31661409	+	Stop_Codon_Del	DEL	CCGTGGCATCCT	CCGTGGCATCCT	-	rs149644176|rs114341725	byFrequency	TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	CCGTGGCATCCT	CCGTGGCATCCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:31661398_31661409delCCGTGGCATCCT	ENST00000375494.3	+	0	1418_1429					NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3						innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.T473T(1)									GTTGTGCTGACCGTGGCATCCTGAGGCTGAGA	0.552																																																1	Substitution - coding silent(1)	lung(1)	20																																								31125070	SO:0001567	stop_retained_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	Exception_encountered	20.37:g.31661398_31661409delCCGTGGCATCCT	ENSP00000364643:p.*477Trpext*?		31125059	Q5TDX7	In_Frame_Del	DEL	ENST00000375494.3	37	CCDS13212.1																																																																																				0.552	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		-	31661409	CCGTGGCATCCT	-	31661398	7	5	345	1	0	1	0	1	0	0	0	0	2097	507	18	0	1476	0	C20orf185	20	31661398	Stop_Codon_Del	DEL	CCGTGGCATCCT	TCGA-29-1770-01A-01W-0633-09	617404	31661398	31364122	77	18753											
ZNF831	128611	genome.wustl.edu	37	20	57770984	57770984	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:57770984A>G	ENST00000371030.2	+	2	3799	c.3799A>G	c.(3799-3801)Aag>Gag	p.K1267E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1267							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCAGAATGGAAGAAAGGCCT	0.512																																																0			20											181	179	180					20																	57770984		1939	4155	6094	57204379	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3799A>G	20.37:g.57770984A>G	ENSP00000360069:p.Lys1267Glu		57204379	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993486	0.35131	.	.	ENSG00000124203	ENST00000371030	T	0.05649	3.41	5.37	5.37	0.77165	.	0.322570	0.26808	N	0.022384	T	0.16428	0.0395	L	0.42245	1.32	0.35316	D	0.784319	D	0.69078	0.997	D	0.67548	0.952	T	0.06789	-1.0807	10	0.87932	D	0	-22.2058	12.0557	0.53533	1.0:0.0:0.0:0.0	.	1267	Q5JPB2	ZN831_HUMAN	E	1267	ENSP00000360069:K1267E	ENSP00000360069:K1267E	K	+	1	0	ZNF831	57204379	0.960000	0.32886	0.785000	0.31869	0.179000	0.23085	2.487000	0.45268	2.164000	0.68074	0.533000	0.62120	AAG		0.512	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		G	57770984	A	G	57770984	3	3	345	1	0	0	0	0	1	0	0	0	18185	247	9	4	3805	4	ZNF831	20	57770984	Missense_Mutation	SNP	A	TCGA-29-1770-01A-01W-0633-09	26109586	57770984	5254536	78	18754											
C20orf177	63939	genome.wustl.edu	37	20	58519510	58519510	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:58519510T>G	ENST00000358293.3	+	5	927	c.512T>G	c.(511-513)gTg>gGg	p.V171G	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.V171G	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	171																	ACGGAAGCCGTGCCCCGAGTG	0.498																																																0			20											54	55	54					20																	58519510		2203	4300	6503	57952905	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.512T>G	20.37:g.58519510T>G	ENSP00000351040:p.Val171Gly		57952905	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	T	9.343	1.063421	0.20067	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.26067	1.76;1.76	5.8	-4.13	0.03904	.	1.252530	0.05875	N	0.625394	T	0.12944	0.0314	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26744	-1.0094	10	0.23891	T	0.37	-1.6727	2.728	0.05219	0.1302:0.2905:0.3737:0.2057	.	171	Q9NTX9	CT177_HUMAN	G	171	ENSP00000351040:V171G;ENSP00000354056:V171G	ENSP00000351040:V171G	V	+	2	0	C20orf177	57952905	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.056000	0.14256	-0.700000	0.05070	-1.271000	0.01417	GTG		0.498	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		G	58519510	T	G	58519510	3	3	345	1	0	0	0	0	1	0	0	0	2096	1696	59	5	514	5	C20orf177	20	58519510	Missense_Mutation	SNP	T	TCGA-29-1770-01A-01W-0633-09	748526	58519510	4506010	79	18755											
DIDO1	11083	genome.wustl.edu	37	20	61542565	61542565	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr20:61542565C>G	ENST00000266070.4	-	3	725	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	DIDO1_ENST00000370368.1_Missense_Mutation_p.E134Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.E134Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.E134Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.E134Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.E134Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.E134Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.E134Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.E134Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	134					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTGGTCGTTCCTTCACAGCT	0.592																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0			20											69	48	55					20																	61542565		2203	4300	6503	61013010	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.400G>C	20.37:g.61542565C>G	ENSP00000266070:p.Glu134Gln		61013010	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009022	0.07912	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19394	3.36;3.36;2.66;2.66;2.15;2.15;2.15;2.16;2.16	5.31	2.27	0.28462	.	0.718981	0.11396	U	0.568347	T	0.12390	0.0301	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.23806	0.002;0.019;0.091;0.055	B;B;B;B	0.17433	0.005;0.007;0.018;0.012	T	0.32981	-0.9886	10	0.21540	T	0.41	-16.9828	7.1945	0.25845	0.0:0.6711:0.1231:0.2059	.	134;134;134;134	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	Q	134	ENSP00000266070:E134Q;ENSP00000378752:E134Q;ENSP00000378749:E134Q;ENSP00000378744:E134Q;ENSP00000359397:E134Q;ENSP00000359394:E134Q;ENSP00000346692:E134Q;ENSP00000359391:E134Q;ENSP00000266071:E134Q	ENSP00000266070:E134Q	E	-	1	0	DIDO1	61013010	0.023000	0.18921	0.002000	0.10522	0.038000	0.13279	0.948000	0.29096	0.624000	0.30286	0.561000	0.74099	GAA		0.592	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		G	61542565	C	G	61542565	3	3	345	1	0	0	0	0	1	0	0	0	4522	864	30	3	6508	3	DIDO1	20	61542565	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	3023055	61542565	1482955	80	18756											
DSCAM	1826	genome.wustl.edu	37	21	41414566	41414566	+	Silent	SNP	A	A	G			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr21:41414566A>G	ENST00000400454.1	-	32	5895	c.5418T>C	c.(5416-5418)agT>agC	p.S1806S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1806					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAGGAGGCACTTTCTGTGG	0.522																																					Melanoma(134;970 1778 1785 21664 32388)											0			21											145	136	139					21																	41414566		2132	4246	6378	40336436	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5418T>C	21.37:g.41414566A>G			40336436	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		G	41414566	A	G	41414566	2	3	345	1	0	0	0	0	0	0	0	1	4768	156	6	4		4	DSCAM	21	41414566	Silent	SNP	A	TCGA-29-1770-01A-01W-0633-09		41414566	6715329	81	18757											
ZNF74	7625	genome.wustl.edu	37	22	20760473	20760473	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr22:20760473G>A	ENST00000400451.2	+	5	1664	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	ZNF74_ENST00000356671.5_Missense_Mutation_p.G384S|ZNF74_ENST00000405993.1_Missense_Mutation_p.G352S|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	384					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CATCCACACGGGCGAGAAGCC	0.652																																																0			22											46	59	55					22																	20760473		2203	4300	6503	19090473	SO:0001583	missense	7625			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1150G>A	22.37:g.20760473G>A	ENSP00000383301:p.Gly384Ser		19090473	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516836	0.85495	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.25085	1.82;1.82;1.82	3.83	3.83	0.44106	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39544	N	0.001326	T	0.43743	0.1261	L	0.50333	1.59	0.29011	N	0.886874	D	0.76494	0.999	D	0.76071	0.987	T	0.26950	-1.0088	10	0.87932	D	0	-38.8651	14.0239	0.64573	0.0:0.0:1.0:0.0	.	384	Q16587	ZNF74_HUMAN	S	384;384;352	ENSP00000383301:G384S;ENSP00000349098:G384S;ENSP00000385855:G352S	ENSP00000349098:G384S	G	+	1	0	ZNF74	19090473	1.000000	0.71417	0.749000	0.31150	0.983000	0.72400	7.293000	0.78740	2.435000	0.82474	0.655000	0.94253	GGC		0.652	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		A	20760473	G	A	20760473	3	1	345	1	0	0	0	0	1	0	0	0	18127	1232	43	2	1168	2	ZNF74	22	20760473	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09		20760473	30544093	82	18758											
SEZ6L	23544	genome.wustl.edu	37	22	26688600	26688600	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr22:26688600G>A	ENST00000248933.6	+	2	418	c.323G>A	c.(322-324)cGc>cAc	p.R108H	SEZ6L_ENST00000529632.2_Missense_Mutation_p.R108H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R108H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R108H|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R108H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	108					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGGAGGCCCGCCCCAAGCAC	0.652																																																0			22											43	36	38					22																	26688600		2202	4300	6502	25018600	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.323G>A	22.37:g.26688600G>A	ENSP00000248933:p.Arg108His		25018600	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613993	0.28712	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.15	-2.48	0.06423	.	2.597300	0.01885	N	0.038158	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	P;P;P;D;P;P	0.58268	0.696;0.474;0.798;0.982;0.474;0.474	B;B;B;B;B;B	0.38562	0.064;0.064;0.135;0.276;0.064;0.064	T	0.21075	-1.0256	10	0.45353	T	0.12	.	6.2621	0.20905	0.2442:0.5478:0.208:0.0	.	108;108;108;108;108;108	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	108	ENSP00000384772:R108H;ENSP00000437037:R108H;ENSP00000354185:R108H;ENSP00000248933:R108H;ENSP00000342661:R108H	ENSP00000248933:R108H	R	+	2	0	SEZ6L	25018600	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.131000	0.10482	-0.178000	0.10672	-0.357000	0.07601	CGC		0.652	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26688600	G	A	26688600	3	1	345	1	0	0	0	0	1	0	0	0	14146	1087	38	1	329	1	SEZ6L	22	26688600	Missense_Mutation	SNP	G	TCGA-29-1770-01A-01W-0633-09	5928127	26688600	24615966	83	18759											
NHP2L1	4809	genome.wustl.edu	37	22	42071161	42071161	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chr22:42071161C>T	ENST00000401959.1	-	4	479	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	NHP2L1_ENST00000355257.3_Missense_Mutation_p.V55M|NHP2L1_ENST00000402458.1_Missense_Mutation_p.V59M|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.V55M	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	55					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GCAGCCATCACGATGAACTCA	0.567																																																0			22											63	61	61					22																	42071161		2203	4300	6503	40401107	SO:0001583	missense	4809				CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"	601304	"non-histone chromosome protein 2 (S. cerevisiae)-like 1", "sperm specific antigen 1"	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.163G>A	22.37:g.42071161C>T	ENSP00000383949:p.Val55Met		40401107		Missense_Mutation	SNP	ENST00000401959.1	37	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036879	0.93630	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.34	5.34	0.76211	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.82204	0.4986	M	0.93462	3.42	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	D	0.86786	0.1982	10	0.87932	D	0	.	19.4053	0.94646	0.0:1.0:0.0:0.0	.	55	P55769	NH2L1_HUMAN	M	55;55;55;59	ENSP00000347401:V55M;ENSP00000215956:V55M;ENSP00000383949:V55M;ENSP00000383989:V59M	ENSP00000215956:V55M	V	-	1	0	NHP2L1	40401107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.666000	0.90696	0.591000	0.81541	GTG		0.567	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		T	42071161	C	T	42071161	3	4	345	1	0	0	0	0	1	0	0	0	10410	536	19	1	227	1	NHP2L1	22	42071161	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09	15382561	42071161	9233405	84	18760											
BCORL1	63035	genome.wustl.edu	37	X	129149450	129149450	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1770-01A-01W-0633-09	TCGA-29-1770-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0cc31dd-6efe-421d-93c1-260cdb19ebcb	740b55fc-1887-4d89-b81a-f9b172e03bb1	g.chrX:129149450C>T	ENST00000218147.7	+	4	2899	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	BCORL1_ENST00000540052.1_Missense_Mutation_p.P901L|BCORL1_ENST00000359304.2_Missense_Mutation_p.P901L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P901L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	901					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAGCAGGACCCTGTTACAAAG	0.567																																																0			X											61	55	57					X																	129149450		2203	4300	6503	128977131	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2702C>T	X.37:g.129149450C>T	ENSP00000218147:p.Pro901Leu		128977131	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	8.645	0.896896	0.17686	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.38722	1.12;1.49;1.12;1.12;1.54	5.31	4.44	0.53790	.	0.663600	0.12465	N	0.466575	T	0.22859	0.0552	N	0.14661	0.345	0.09310	N	1	P;B	0.37548	0.599;0.042	B;B	0.32864	0.154;0.01	T	0.04347	-1.0958	10	0.33141	T	0.24	-0.4703	7.7872	0.29099	0.1621:0.7542:0.0:0.0837	.	901;901	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	901;901;901;901;501	ENSP00000218147:P901L;ENSP00000307541:P901L;ENSP00000352253:P901L;ENSP00000437775:P901L;ENSP00000399483:P501L	ENSP00000218147:P901L	P	+	2	0	BCORL1	128977131	0.022000	0.18835	0.962000	0.40283	0.968000	0.65278	2.652000	0.46682	2.215000	0.71742	0.529000	0.55759	CCT		0.567	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129149450	C	T	129149450	3	4	345	1	0	0	0	0	1	0	0	0	1387	681	24	2	2712	2	BCORL1	23	129149450	Missense_Mutation	SNP	C	TCGA-29-1770-01A-01W-0633-09		129149450	26121110	85	18761											
IGSF3	3321	genome.wustl.edu	37	1	117122413	117122413	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr1:117122413G>A	ENST00000369486.3	-	10	3700	c.2935C>T	c.(2935-2937)Cgc>Tgc	p.R979C	IGSF3_ENST00000318837.6_Missense_Mutation_p.R999C|IGSF3_ENST00000369483.1_Missense_Mutation_p.R999C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	979	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGGCTGGAGCGGGACACGATG	0.592																																																0			1											37	36	36					1																	117122413		2203	4300	6503	116923936	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2935C>T	1.37:g.117122413G>A	ENSP00000358498:p.Arg979Cys		116923936	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651009	0.88056	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.22539	1.95;1.95;1.95	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.218972	0.42172	D	0.000759	T	0.26484	0.0647	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;P	0.59288	0.791;0.855	T	0.01225	-1.1413	10	0.56958	D	0.05	-36.4972	15.1177	0.72416	0.0:0.0:1.0:0.0	.	979;999	O75054;A6NJZ6	IGSF3_HUMAN;.	C	979;999;999	ENSP00000358498:R979C;ENSP00000358495:R999C;ENSP00000321184:R999C	ENSP00000321184:R999C	R	-	1	0	IGSF3	116923936	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	8.151000	0.89636	2.421000	0.82119	0.462000	0.41574	CGC		0.592	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		A	117122413	G	A	117122413	3	1	346	1	0	0	0	0	1	0	0	0	7601	1116	39	1	657	1	IGSF3	1	117122413	Missense_Mutation	SNP	G	TCGA-29-1771-01A-01W-0633-09		117122413	132128208	1	18762											
TTC7A	57217	genome.wustl.edu	37	2	47288007	47288007	+	Missense_Mutation	SNP	G	G	A	rs549475664		TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr2:47288007G>A	ENST00000319190.5	+	19	2620	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	TTC7A_ENST00000263737.6_Missense_Mutation_p.R397Q|TTC7A_ENST00000394850.2_Missense_Mutation_p.R775Q|TTC7A_ENST00000409245.1_Missense_Mutation_p.R717Q	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	751					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTCTATATGCGGGGCCGGCTG	0.607													G|||	1	0.000199681	0	0.0014	5008	,	,		19015	0		0	False		,,,				2504	0															0			2											62	63	63					2																	47288007		2203	4300	6503	47141511	SO:0001583	missense	57217			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2252G>A	2.37:g.47288007G>A	ENSP00000316699:p.Arg751Gln		47141511	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345606	0.95807	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.124806	0.53938	D	0.000044	D	0.87621	0.6223	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.69078	0.997;0.996;0.978;0.99	P;D;P;P	0.65874	0.834;0.939;0.705;0.866	D	0.86246	0.1646	10	0.42905	T	0.14	-29.9595	19.6776	0.95943	0.0:0.0:1.0:0.0	.	775;717;751;717	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	Q	717;751;775;397;578	ENSP00000386307:R717Q;ENSP00000316699:R751Q;ENSP00000378320:R775Q;ENSP00000263737:R397Q	ENSP00000263737:R397Q	R	+	2	0	TTC7A	47141511	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.439000	0.73430	2.746000	0.94184	0.655000	0.94253	CGG		0.607	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		A	47288007	G	A	47288007	3	1	346	1	0	0	0	0	1	0	0	0	16712	1116	39	1	2326	1	TTC7A	2	47288007	Missense_Mutation	SNP	G	TCGA-29-1771-01A-01W-0633-09		47288007	195911366	2	18763											
ADCY2	108	genome.wustl.edu	37	5	7626301	7626301	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr5:7626301T>A	ENST00000338316.4	+	4	681	c.592T>A	c.(592-594)Ttc>Atc	p.F198I		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	198				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGTGATCATTTTCATCTGTGG	0.448																																																0			5											164	159	161					5																	7626301		2203	4300	6503	7679301	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.592T>A	5.37:g.7626301T>A	ENSP00000342952:p.Phe198Ile		7679301	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	29.6	5.018364	0.93404	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.79247	-1.25	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.89682	0.3891	10	0.87932	D	0	.	12.9201	0.58226	0.0:0.0:0.0:1.0	.	198	Q08462	ADCY2_HUMAN	I	198;49	ENSP00000342952:F198I	ENSP00000342952:F198I	F	+	1	0	ADCY2	7679301	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.338000	0.79269	2.039000	0.60335	0.533000	0.62120	TTC		0.448	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7626301	T	A	7626301	3	1	346	1	0	0	0	0	1	0	0	0	294	1841	64	5	606	5	ADCY2	5	7626301	Missense_Mutation	SNP	T	TCGA-29-1771-01A-01W-0633-09		7626301	173288959	3	18764											
HIST1H2BL	8340	genome.wustl.edu	37	6	27775557	27775557	+	Frame_Shift_Del	DEL	T	T	-			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr6:27775557delT	ENST00000377401.2	-	1	152	c.128delA	c.(127-129)tacfs	p.Y43fs	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	43					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)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAGCACCTTGTACACGTACAC	0.582																																																0			6											215	201	206					6																	27775557		2203	4298	6501	27883536	SO:0001589	frameshift_variant	8340			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"Histones / Replication-dependent"	4748	protein-coding gene	gene with protein product		602800	"H2B histone family, member C", "histone 1, H2bl"	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.128delA	6.37:g.27775557delT	ENSP00000366618:p.Tyr43fs		27883536	B2R5A3|Q52LW9	Frame_Shift_Del	DEL	ENST00000377401.2	37	CCDS4625.1																																																																																				0.582	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		-	27775557	T	-	27775557	7	5	346	1	0	1	0	1	0	0	0	0	7151	1638	57	0	256	0	HIST1H2BL	6	27775557	Frame_Shift_Del	DEL	T	TCGA-29-1771-01A-01W-0633-09		27775557	143339510	4	18765											
ZFHX4	79776	genome.wustl.edu	37	8	77763429	77763429	+	Silent	SNP	G	G	A	rs199795783		TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr8:77763429G>A	ENST00000521891.2	+	10	4720	c.4272G>A	c.(4270-4272)gcG>gcA	p.A1424A	ZFHX4_ENST00000050961.6_Silent_p.A1379A|ZFHX4_ENST00000455469.2_Silent_p.A1379A|ZFHX4_ENST00000518282.1_Silent_p.A1398A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCGGGCTGCGACAATGTGTA	0.458										HNSCC(33;0.089)																																						0			8						G		0,3862		0,0,1931	52	48	49		4272	-9.9	0	8		49	1,8259		0,1,4129	no	coding-synonymous	ZFHX4	NM_024721.4		0,1,6060	AA,AG,GG		0.0121,0.0,0.0082		1424/3617	77763429	1,12121	1931	4130	6061	77925984	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4272G>A	8.37:g.77763429G>A			77925984	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77763429	G	A	77763429	2	1	346	1	0	0	0	0	0	0	0	1	17635	1045	37	1		1	ZFHX4	8	77763429	Silent	SNP	G	TCGA-29-1771-01A-01W-0633-09		77763429	68600593	5	18766											
FBXW4	6468	genome.wustl.edu	37	10	103371507	103371507	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr10:103371507C>T	ENST00000331272.7	-	8	1615	c.997G>A	c.(997-999)Gag>Aag	p.E333K	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	333					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TGGGGCTCCTCCCACTCCATG	0.592																																																0			10											76	66	69					10																	103371507		2203	4300	6503	103361497	SO:0001583	missense	6468			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"F-boxes / WD-40 domains", "WD repeat domain containing"	10847	protein-coding gene	gene with protein product		608071	"split hand/foot malformation (ectrodactyly) type 3", "F-box and WD-40 domain protein 4"	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.997G>A	10.37:g.103371507C>T	ENSP00000359149:p.Glu333Lys		103361497	Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231993	0.95207	.	.	ENSG00000107829	ENST00000331272;ENST00000389046	T	0.73789	-0.78	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82195	0.4984	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.76473	-0.2946	10	0.06494	T	0.89	-20.1507	18.5729	0.91142	0.0:1.0:0.0:0.0	.	333	P57775	FBXW4_HUMAN	K	333	ENSP00000359149:E333K	ENSP00000359149:E333K	E	-	1	0	FBXW4	103361497	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.286000	0.78671	2.614000	0.88457	0.555000	0.69702	GAG		0.592	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		T	103371507	C	T	103371507	3	4	346	1	0	0	0	0	1	0	0	0	5767	864	30	2	249	2	FBXW4	10	103371507	Missense_Mutation	SNP	C	TCGA-29-1771-01A-01W-0633-09		103371507	32163240	6	18767											
MYO7A	4647	genome.wustl.edu	37	11	76868037	76868037	+	Missense_Mutation	SNP	G	G	A	rs111033284		TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr11:76868037G>A	ENST00000409709.3	+	7	994	c.722G>A	c.(721-723)cGt>cAt	p.R241H	MYO7A_ENST00000409893.1_Missense_Mutation_p.R241H|MYO7A_ENST00000409619.2_Missense_Mutation_p.R230H|MYO7A_ENST00000458637.2_Missense_Mutation_p.R241H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	241	Myosin motor.		R -> C (in USH1B). {ECO:0000269|PubMed:10930322}.|R -> S (in USH1B).		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAAAGTCACGTGTCTGTCGC	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		17224	0		0	False		,,,				2504	0															0			11	GRCh37	CM071027	MYO7A	M	rs111033284						67	72	70					11																	76868037		2031	4171	6202	76545685	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.722G>A	11.37:g.76868037G>A	ENSP00000386331:p.Arg241His		76545685	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.014936	0.75161	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.2	5.2	0.72013	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	H	0.98682	4.3	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99204	1.0874	10	0.66056	D	0.02	.	18.7506	0.91812	0.0:0.0:1.0:0.0	.	241;241;241	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	H	241;241;241;230;240;240;240;240	ENSP00000386331:R241H;ENSP00000386689:R241H;ENSP00000392185:R241H;ENSP00000386635:R230H	ENSP00000345075:R240H	R	+	2	0	MYO7A	76545685	1.000000	0.71417	0.087000	0.20705	0.326000	0.28443	9.782000	0.99034	2.412000	0.81896	0.651000	0.88453	CGT		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		A	76868037	G	A	76868037	3	1	346	1	0	0	0	0	1	0	0	0	10082	1145	40	1	744	1	MYO7A	11	76868037	Missense_Mutation	SNP	G	TCGA-29-1771-01A-01W-0633-09		76868037	58138479	7	18768											
MLL	4297	genome.wustl.edu	37	11	118376575	118376575	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr11:118376575G>A	ENST00000389506.5	+	27	9959	c.9959G>A	c.(9958-9960)aGc>aAc	p.S3320N	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3323N|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3282N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3320					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCAACAATAAGCCAGGATACT	0.488																																																0			11											105	100	102					11																	118376575		2200	4295	6495	117881785	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9959G>A	11.37:g.118376575G>A	ENSP00000374157:p.Ser3320Asn		117881785	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064678	0.36470	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82711	-1.64;-1.64;-1.61	5.92	4.06	0.47325	.	0.154071	0.64402	N	0.000019	T	0.67655	0.2916	N	0.08118	0	0.33256	D	0.559133	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.67987	-0.5528	10	0.46703	T	0.11	.	12.6582	0.56799	0.1316:0.0:0.8684:0.0	.	3323;3320	E9PQG7;Q03164	.;MLL1_HUMAN	N	3323;3320;3282;2230	ENSP00000436786:S3323N;ENSP00000374157:S3320N;ENSP00000346516:S3282N	ENSP00000346516:S3282N	S	+	2	0	MLL	117881785	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.393000	0.73217	0.851000	0.35264	0.467000	0.42956	AGC		0.488	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		A	118376575	G	A	118376575	3	1	346	1	0	0	0	0	1	0	0	0	9620	971	34	2	10065	2	MLL	11	118376575	Missense_Mutation	SNP	G	TCGA-29-1771-01A-01W-0633-09	41508538	118376575	16629941	8	18769											
HERC1	8925	genome.wustl.edu	37	15	63964715	63964715	+	Silent	SNP	C	C	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr15:63964715C>A	ENST00000443617.2	-	39	8112	c.8025G>T	c.(8023-8025)gtG>gtT	p.V2675V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2675					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAAGAGGCATCACTCCCGGGG	0.502																																																0			15											64	64	64					15																	63964715		2001	4176	6177	61751768	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8025G>T	15.37:g.63964715C>A			61751768	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	63964715	C	A	63964715	2	1	346	1	0	0	0	0	0	0	0	1	7057	813	29	3		3	HERC1	15	63964715	Silent	SNP	C	TCGA-29-1771-01A-01W-0633-09		63964715	38566677	9	18770											
SALL1	6299	genome.wustl.edu	37	16	51173222	51173222	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr16:51173222C>T	ENST00000251020.4	-	2	2944	c.2911G>A	c.(2911-2913)Gat>Aat	p.D971N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.D874N|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	971					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATGTCAAATCCAAAGCCCCA	0.473																																					GBM(103;1352 1446 1855 4775 8890)											0			16											50	43	46					16																	51173222		2198	4300	6498	49730723	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2911G>A	16.37:g.51173222C>T	ENSP00000251020:p.Asp971Asn		49730723	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587740	0.66105	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.79653	-1.29;-1.29	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.87664	0.2536	10	0.48119	T	0.1	.	19.549	0.95310	0.0:1.0:0.0:0.0	.	971	Q9NSC2	SALL1_HUMAN	N	971;874;935	ENSP00000251020:D971N;ENSP00000407914:D874N	ENSP00000251020:D971N	D	-	1	0	SALL1	49730723	1.000000	0.71417	0.997000	0.53966	0.534000	0.34807	7.818000	0.86416	2.616000	0.88540	0.455000	0.32223	GAT		0.473	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		T	51173222	C	T	51173222	3	4	346	1	0	0	0	0	1	0	0	0	13813	855	30	2	1071	2	SALL1	16	51173222	Missense_Mutation	SNP	C	TCGA-29-1771-01A-01W-0633-09		51173222	39181531	10	18771											
MON1B	22879	genome.wustl.edu	37	16	77228856	77228856	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr16:77228856G>A	ENST00000248248.3	+	4	1450	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	MON1B_ENST00000545553.1_Missense_Mutation_p.R221Q|MON1B_ENST00000439557.2_Missense_Mutation_p.R258Q|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	367										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCGCCTGCCGGCGCCTGGTT	0.617																																																0			16											60	59	59					16																	77228856		2198	4300	6498	75786357	SO:0001583	missense	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1100G>A	16.37:g.77228856G>A	ENSP00000248248:p.Arg367Gln		75786357	B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318942	0.81469	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.69	3.73	0.42828	.	0.053328	0.64402	D	0.000001	T	0.64193	0.2576	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.61697	0.962;0.99;0.99;0.985	P;P;P;P	0.51550	0.475;0.673;0.673;0.489	T	0.67122	-0.5750	9	0.51188	T	0.08	.	6.2081	0.20613	0.2004:0.0:0.7996:0.0	.	221;258;247;367	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	Q	367;258;221	.	ENSP00000248248:R367Q	R	+	2	0	MON1B	75786357	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.303000	0.51858	2.550000	0.86006	0.563000	0.77884	CGG		0.617	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		A	77228856	G	A	77228856	3	1	346	1	0	0	0	0	1	0	0	0	9699	1116	39	1	1110	1	MON1B	16	77228856	Missense_Mutation	SNP	G	TCGA-29-1771-01A-01W-0633-09	26055634	77228856	13125897	11	18772											
TP53	7157	genome.wustl.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr17:7578400G>C	ENST00000269305.4	-	5	719	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000420246.2_Missense_Mutation_p.P177R|TP53_ENST00000455263.2_Missense_Mutation_p.P177R	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)	CTCATGGTGGGGGCAGCGCCT	0.647		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"	92	Substitution - Missense(41)|Deletion - In frame(20)|Deletion - Frameshift(20)|Whole gene deletion(8)|Complex - deletion inframe(3)	large_intestine(15)|breast(12)|upper_aerodigestive_tract(10)|skin(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|stomach(5)|central_nervous_system(5)|lung(4)|liver(4)|oesophagus(4)|bone(4)|pancreas(3)|prostate(3)	17											48	48	48					17																	7578400		2203	4300	6503	7519125	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.530C>G	17.37:g.7578400G>C	ENSP00000269305:p.Pro177Arg		7519125	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	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535580	0.85812	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	N	0.000000	D	0.99894	0.9949	M	0.90082	3.085	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.999;0.962;0.974;1.0;0.882;0.97;0.998	D;P;P;D;P;P;D	0.87578	0.99;0.79;0.86;0.998;0.78;0.867;0.978	D	0.96047	0.9028	10	0.87932	D	0	-24.4396	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177R;ENSP00000352610:P177R;ENSP00000269305:P177R;ENSP00000398846:P177R;ENSP00000391127:P177R;ENSP00000391478:P177R;ENSP00000425104:P45R;ENSP00000423862:P84R	ENSP00000269305:P177R	P	-	2	0	TP53	7519125	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.813000	0.99286	1.475000	0.48197	0.655000	0.94253	CCC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578400	G	C	7578400	3	2	346	1	0	0	0	0	1	0	0	0	16381	1232	43	3	768	3	TP53	17	7578400	Missense_Mutation	SNP	G	TCGA-29-1771-01A-01W-0633-09		7578400	73616810	12	18773											
NF1	4763	genome.wustl.edu	37	17	29586050	29586054	+	Splice_Site	DEL	ATACT	ATACT	-	rs199474733		TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	ATACT	ATACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr17:29586050_29586054delATACT	ENST00000358273.4	+	33	4716_4720	c.4333_4337delATACT	c.(4333-4338)atactt>t	p.IL1445fs	NF1_ENST00000356175.3_Splice_Site_p.IL1424fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1445	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTGTGTAGATACTTCAGAGTATT	0.298			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	17	GRCh37	CM990929	NF1	M																																				26610180	SO:0001630	splice_region_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4333-1ATACT>-	17.37:g.29586050_29586054delATACT			26610176	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.298	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Frame_Shift_Del	-	29586054	ATACT	-	29586050	8	5	346	1	0	1	0	1	0	0	1	0	10356	347	12	0	4524	0	NF1	17	29586050	Splice_Site	DEL	ATACT	TCGA-29-1771-01A-01W-0633-09	22007650	29586050	51609160	13	18774											
MLL4	9757	genome.wustl.edu	37	19	36218514	36218514	+	Silent	SNP	C	C	G			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr19:36218514C>G	ENST00000222270.7	+	16	4293	c.4293C>G	c.(4291-4293)ctC>ctG	p.L1431L	KMT2B_ENST00000420124.1_Silent_p.L1431L|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1431					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CACTGCTGCTCTGCACCCAGG	0.721																																																0			19											21	25	23					19																	36218514		1961	4131	6092	40910354	SO:0001819	synonymous_variant	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4293C>G	19.37:g.36218514C>G			40910354	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1																																																																																				0.721	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		G	36218514	C	G	36218514	2	3	346	1	0	0	0	0	0	0	0	1	9623	900	32	3		3	MLL4	19	36218514	Silent	SNP	C	TCGA-29-1771-01A-01W-0633-09		36218514	22910469	14	18775											
BIK	638	genome.wustl.edu	37	22	43520074	43520074	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr22:43520074C>T	ENST00000216115.2	+	2	109	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	16					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GATGGAGACCCTCCTGTATGA	0.517																																																0			22											108	109	109					22																	43520074		2203	4300	6503	41850018	SO:0001583	missense	638			U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.46C>T	22.37:g.43520074C>T	ENSP00000216115:p.Leu16Phe		41850018	Q16582|Q6FH93	Missense_Mutation	SNP	ENST00000216115.2	37	CCDS14044.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787778	0.31593	.	.	ENSG00000100290	ENST00000216115	T	0.27890	1.64	3.98	0.192	0.15134	.	.	.	.	.	T	0.12902	0.0313	N	0.11560	0.145	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.33599	-0.9862	9	0.17832	T	0.49	-3.7201	3.2872	0.06936	0.0:0.2269:0.2277:0.5454	.	16	Q13323	BIK_HUMAN	F	16	ENSP00000216115:L16F	ENSP00000216115:L16F	L	+	1	0	BIK	41850018	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.754000	0.04787	-0.049000	0.13379	-0.345000	0.07892	CTC		0.517	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		T	43520074	C	T	43520074	3	4	346	1	0	0	0	0	1	0	0	0	1431	681	24	2	48	2	BIK	22	43520074	Missense_Mutation	SNP	C	TCGA-29-1771-01A-01W-0633-09		43520074	7784492	15	18776											
DNAJC6	9829	genome.wustl.edu	37	1	65874342	65874342	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr1:65874342C>A	ENST00000395325.3	+	17	2496	c.2339C>A	c.(2338-2340)gCt>gAt	p.A780D	DNAJC6_ENST00000371069.4_Missense_Mutation_p.A837D|DNAJC6_ENST00000263441.7_Missense_Mutation_p.A767D	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	780					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CAAAAAGCAGCTGATTTTGAA	0.383																																																0			1											84	89	87					1																	65874342		2203	4300	6503	65646930	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2339C>A	1.37:g.65874342C>A	ENSP00000378735:p.Ala780Asp		65646930	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162245	0.38217	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	T;T;T	0.21932	1.98;1.98;1.98	5.37	5.37	0.77165	Heat shock protein DnaJ, N-terminal (1);	0.053676	0.64402	D	0.000001	T	0.06096	0.0158	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.002	T	0.12604	-1.0541	10	0.09084	T	0.74	.	14.1791	0.65562	0.1494:0.8505:0.0:0.0	.	837;780	O75061-2;O75061	.;AUXI_HUMAN	D	767;780;837	ENSP00000263441:A767D;ENSP00000378735:A780D;ENSP00000360108:A837D	ENSP00000263441:A767D	A	+	2	0	DNAJC6	65646930	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.286000	0.58995	2.793000	0.96121	0.563000	0.77884	GCT		0.383	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			A	65874342	C	A	65874342	3	1	347	1	0	0	0	0	1	0	0	0	4653	797	28	3	2405	3	DNAJC6	1	65874342	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09		65874342	183376279	1	18777											
AMY2B	280	genome.wustl.edu	37	1	104122081	104122081	+	Nonsense_Mutation	SNP	G	G	T	rs201325836		TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr1:104122081G>T	ENST00000361355.4	+	12	2111	c.1495G>T	c.(1495-1497)Gag>Tag	p.E499*	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	499					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TAACTCTGCTGAGGATCCATT	0.308																																																0			1											166	174	171					1																	104122081		2203	4300	6503	103923604	SO:0001587	stop_gained	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1495G>T	1.37:g.104122081G>T	ENSP00000354610:p.Glu499*		103923604	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Nonsense_Mutation	SNP	ENST00000361355.4	37	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	43	9.888632	0.99288	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.3844	0.83500	0.0:0.0:1.0:0.0	.	.	.	.	X	499	.	ENSP00000354610:E499X	E	+	1	0	AMY2B	103923604	1.000000	0.71417	0.988000	0.46212	0.915000	0.54546	7.993000	0.88291	2.021000	0.59480	0.585000	0.79938	GAG		0.308	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		T	104122081	G	T	104122081	4	4	347	1	0	0	0	0	0	1	0	0	595	1291	45	3	1533	3	AMY2B	1	104122081	Nonsense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09	38247739	104122081	145128540	2	18778											
GRHL1	29841	genome.wustl.edu	37	2	10104439	10104439	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr2:10104439C>G	ENST00000324907.9	+	7	1115	c.979C>G	c.(979-981)Cgg>Ggg	p.R327G	GRHL1_ENST00000405379.2_Missense_Mutation_p.R327G|GRHL1_ENST00000324883.5_Missense_Mutation_p.R138G	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	327					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CTGGCACTCCCGGCAGCACAC	0.448																																																0			2											101	97	99					2																	10104439		2203	4300	6503	10021890	SO:0001583	missense	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.979C>G	2.37:g.10104439C>G	ENSP00000324693:p.Arg327Gly		10021890	A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495448	0.64186	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.18810	2.19;2.19;2.19	5.0	4.07	0.47477	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.83275	0.929;0.996	T	0.20107	-1.0285	10	0.87932	D	0	.	14.4373	0.67290	0.2066:0.7934:0.0:0.0	.	138;327	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	G	327;138;327	ENSP00000384209:R327G;ENSP00000324494:R138G;ENSP00000324693:R327G	ENSP00000324494:R138G	R	+	1	2	GRHL1	10021890	0.886000	0.30341	1.000000	0.80357	0.995000	0.86356	1.915000	0.39976	2.494000	0.84150	0.655000	0.94253	CGG		0.448	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		G	10104439	C	G	10104439	3	3	347	1	0	0	0	0	1	0	0	0	6763	643	23	3	1005	3	GRHL1	2	10104439	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09		10104439	233094934	3	18779											
TTN	7273	genome.wustl.edu	37	2	179458793	179458793	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr2:179458793C>A	ENST00000591111.1	-	247	53628	c.53404G>T	c.(53404-53406)Gct>Tct	p.A17802S	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A16875S|TTN_ENST00000359218.5_Missense_Mutation_p.A10503S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A19443S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A10570S|TTN_ENST00000460472.2_Missense_Mutation_p.A10378S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17802	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTAAAGCAAGTGTTGCT	0.433																																																0			2											171	163	166					2																	179458793		2007	4189	6196	179167039	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53404G>T	2.37:g.179458793C>A	ENSP00000465570:p.Ala17802Ser		179167039	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.89	2.370767	0.42003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	6.17	1.84	0.25277	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28665	0.0710	N	0.00569	-1.365	0.26237	N	0.978928	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.30621	-0.9972	9	0.87932	D	0	.	9.1027	0.36678	0.629:0.2939:0.0:0.0771	.	10378;10503;10570;17802	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	16875;10378;10570;10503;10376	ENSP00000343764:A16875S;ENSP00000434586:A10378S;ENSP00000340554:A10570S;ENSP00000352154:A10503S	ENSP00000340554:A10570S	A	-	1	0	TTN	179167039	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	3.634000	0.54302	0.420000	0.25954	0.655000	0.94253	GCT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179458793	C	A	179458793	3	1	347	1	0	0	0	0	1	0	0	0	16735	710	25	3	49916	3	TTN	2	179458793	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09	169354354	179458793	63740580	4	18780											
SGEF	26084	genome.wustl.edu	37	3	153840376	153840376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr3:153840376G>T	ENST00000356448.4	+	2	879	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465817.1_Nonsense_Mutation_p.E199*|ARHGEF26_ENST00000465093.1_Nonsense_Mutation_p.E199*	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	199					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAAGGACCCCGAACGGGGGCT	0.607																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											0			3											21	24	23					3																	153840376		1818	4074	5892	155323066	SO:0001587	stop_gained	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.595G>T	3.37:g.153840376G>T	ENSP00000348828:p.Glu199*		155323066	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Nonsense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551450	0.86127	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	.	.	.	4.83	2.95	0.34219	.	1.123200	0.06623	N	0.757817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.6159	10.8673	0.46862	0.0:0.1419:0.7106:0.1475	.	.	.	.	X	199	.	ENSP00000348828:E199X	E	+	1	0	ARHGEF26	155323066	0.940000	0.31905	0.000000	0.03702	0.183000	0.23260	3.607000	0.54102	0.392000	0.25172	0.561000	0.74099	GAA		0.607	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		T	153840376	G	T	153840376	4	4	347	1	0	0	0	0	0	1	0	0	14208	1059	37	3	597	3	SGEF	3	153840376	Nonsense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09		153840376	44182054	5	18781											
INPP4B	8821	genome.wustl.edu	37	4	143181692	143181692	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr4:143181692G>T	ENST00000513000.1	-	12	1074	c.641C>A	c.(640-642)gCc>gAc	p.A214D	INPP4B_ENST00000509777.1_Missense_Mutation_p.A214D|INPP4B_ENST00000308502.4_Missense_Mutation_p.A214D|INPP4B_ENST00000262992.4_Missense_Mutation_p.A214D|INPP4B_ENST00000508116.1_Missense_Mutation_p.A214D	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	214					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACTTTCCGGGGCTGTACATTC	0.279																																																0			4											52	52	52					4																	143181692		2203	4300	6503	143401142	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.641C>A	4.37:g.143181692G>T	ENSP00000425487:p.Ala214Asp		143401142	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242740	0.79912	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.52	5.52	0.82312	.	0.071938	0.56097	D	0.000032	T	0.42988	0.1227	L	0.53249	1.67	0.41018	D	0.98505	D;P	0.56746	0.977;0.804	P;B	0.53593	0.73;0.289	T	0.10451	-1.0629	10	0.27785	T	0.31	.	17.2219	0.86960	0.0:0.0:1.0:0.0	.	85;214	B7Z6T2;O15327	.;INP4B_HUMAN	D	214;214;214;85;214;214;29;29;214;85	ENSP00000425487:A214D;ENSP00000262992:A214D;ENSP00000308441:A214D;ENSP00000423954:A214D;ENSP00000422793:A214D;ENSP00000426207:A29D;ENSP00000427250:A214D;ENSP00000421065:A85D	ENSP00000262992:A214D	A	-	2	0	INPP4B	143401142	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	3.432000	0.52824	2.586000	0.87340	0.655000	0.94253	GCC		0.279	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		T	143181692	G	T	143181692	3	4	347	1	0	0	0	0	1	0	0	0	7753	1203	42	3	2197	3	INPP4B	4	143181692	Missense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09		143181692	47972584	6	18782											
NEK1	4750	genome.wustl.edu	37	4	170345833	170345833	+	Silent	SNP	T	T	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr4:170345833T>C	ENST00000439128.2	-	29	3649	c.3009A>G	c.(3007-3009)caA>caG	p.Q1003Q	NEK1_ENST00000511633.1_Silent_p.Q987Q|NEK1_ENST00000507142.1_Silent_p.Q1031Q|NEK1_ENST00000512193.1_Silent_p.Q934Q|NEK1_ENST00000510533.1_Silent_p.Q959Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1003					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACTGAACTGATTGAACTTGAG	0.388																																																0			4											110	105	107					4																	170345833		1875	4100	5975	170582408	SO:0001819	synonymous_variant	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3009A>G	4.37:g.170345833T>C			170582408	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	ENST00000439128.2	37	CCDS47162.1																																																																																				0.388	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			C	170345833	T	C	170345833	2	2	347	1	0	0	0	0	0	0	0	1	10321	1490	52	4		4	NEK1	4	170345833	Silent	SNP	T	TCGA-29-1774-01A-01W-0639-09	27164141	170345833	20808443	7	18783											
RNASEN	29102	genome.wustl.edu	37	5	31504699	31504699	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr5:31504699C>T	ENST00000511367.2	-	10	1875	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	DROSHA_ENST00000442743.1_Missense_Mutation_p.R507H|DROSHA_ENST00000513349.1_Missense_Mutation_p.R507H|Y_RNA_ENST00000383955.1_RNA|DROSHA_ENST00000344624.3_Missense_Mutation_p.R544H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	544	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AATTCCTGTGCGTCTTGCCTT	0.423																																																0			5											174	160	165					5																	31504699		1971	4181	6152	31540456	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1631G>A	5.37:g.31504699C>T	ENSP00000425979:p.Arg544His		31540456	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045042	0.93685	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.51574	1.33;1.33;0.7;0.7	5.11	5.11	0.69529	.	0.055516	0.64402	D	0.000001	T	0.69655	0.3135	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.70016	0.967;0.927;0.904	T	0.72659	-0.4226	10	0.87932	D	0	-18.2672	19.0785	0.93173	0.0:1.0:0.0:0.0	.	476;507;544	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	H	544;544;507;507;469;500	ENSP00000425979:R544H;ENSP00000339845:R544H;ENSP00000409335:R507H;ENSP00000424161:R507H	ENSP00000265075:R469H	R	-	2	0	DROSHA	31540456	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.873000	0.75541	2.802000	0.96397	0.563000	0.77884	CGC		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		T	31504699	C	T	31504699	3	4	347	1	0	0	0	0	1	0	0	0	13420	768	27	1	2597	1	RNASEN	5	31504699	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09		31504699	149410561	8	18784											
TRIM23	373	genome.wustl.edu	37	5	64892358	64892358	+	Splice_Site	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr5:64892358C>A	ENST00000231524.9	-	9	1681	c.1310G>T	c.(1309-1311)gGt>gTt	p.G437V	TRIM23_ENST00000274327.7_Splice_Site_p.G437V|TRIM23_ENST00000381018.3_Splice_Site_p.G437V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	437	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CACGTTAAAACCTGTTTTAAA	0.284																																																0			5											66	66	66					5																	64892358		2201	4290	6491	64928114	SO:0001630	splice_region_variant	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1310-1G>T	5.37:g.64892358C>A			64928114	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421175	0.83559	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.86497	-2.13;-2.13;-2.13	5.72	5.72	0.89469	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96479	0.8851	H	0.97962	4.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97570	1.0104	10	0.87932	D	0	.	19.8737	0.96861	0.0:1.0:0.0:0.0	.	437;437;437	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	V	437	ENSP00000231524:G437V;ENSP00000370406:G437V;ENSP00000274327:G437V	ENSP00000231524:G437V	G	-	2	0	TRIM23	64928114	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.746000	0.85057	2.705000	0.92388	0.484000	0.47621	GGT		0.284	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	Missense_Mutation	A	64892358	C	A	64892358	5	1	347	1	0	0	0	0	0	0	1	0	16497	521	18	3	493	3	TRIM23	5	64892358	Splice_Site	SNP	C	TCGA-29-1774-01A-01W-0639-09	33387659	64892358	116022902	9	18785											
IMPG1	3617	genome.wustl.edu	37	6	76751728	76751728	+	Silent	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr6:76751728G>A	ENST00000369950.3	-	2	372	c.183C>T	c.(181-183)ttC>ttT	p.F61F	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368																																					Pancreas(37;839 1141 2599 26037)											2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|endometrium(1)	6											184	173	177					6																	76751728		2203	4300	6503	76808448	SO:0001819	synonymous_variant	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.183C>T	6.37:g.76751728G>A			76808448		Silent	SNP	ENST00000369950.3	37	CCDS4985.1																																																																																				0.368	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76751728	G	A	76751728	2	1	347	1	0	0	0	0	0	0	0	1	7728	1049	37	1		1	IMPG1	6	76751728	Silent	SNP	G	TCGA-29-1774-01A-01W-0639-09		76751728	94363339	10	18786											
CBLL1	79872	genome.wustl.edu	37	7	107398678	107398678	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr7:107398678G>T	ENST00000440859.3	+	6	998	c.531G>T	c.(529-531)ttG>ttT	p.L177F	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.L176F	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	177	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GAACATATTTGTCTCAGAGAG	0.443																																																0			7											140	123	129					7																	107398678		2203	4300	6503	107185914	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.531G>T	7.37:g.107398678G>T	ENSP00000401277:p.Leu177Phe		107185914	B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584116	0.46110	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.63744	0.25;-0.06;0.19	5.14	1.33	0.21861	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.75012	0.3792	M	0.79011	2.435	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.931	T	0.73202	-0.4057	10	0.87932	D	0	-1.4629	8.5727	0.33578	0.4596:0.0:0.5404:0.0	.	176;177	B7ZM03;Q75N03	.;HAKAI_HUMAN	F	177;56;176;127;123	ENSP00000401277:L177F;ENSP00000222597:L176F;ENSP00000410615:L127F	ENSP00000222597:L176F	L	+	3	2	CBLL1	107185914	1.000000	0.71417	0.655000	0.29622	0.984000	0.73092	2.192000	0.42649	0.035000	0.15519	0.655000	0.94253	TTG		0.443	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		T	107398678	G	T	107398678	3	4	347	1	0	0	0	0	1	0	0	0	2703	1368	48	3	553	3	CBLL1	7	107398678	Missense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09		107398678	51739985	11	18787											
AASS	10157	genome.wustl.edu	37	7	121731846	121731846	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr7:121731846T>C	ENST00000393376.1	-	17	2022	c.1927A>G	c.(1927-1929)Aac>Gac	p.N643D	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.N643D			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	643	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AATGGATTGTTTGAATGTTCA	0.373																																																0			7											53	53	53					7																	121731846		2203	4300	6503	121519082	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1927A>G	7.37:g.121731846T>C	ENSP00000377040:p.Asn643Asp		121519082	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	T	5.143	0.211937	0.09757	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.38401	1.14;1.14	5.58	3.58	0.41010	.	0.088225	0.85682	N	0.000000	T	0.10766	0.0263	N	0.01284	-0.91	0.35719	D	0.81697	B	0.02656	0.0	B	0.06405	0.002	T	0.27226	-1.0080	10	0.02654	T	1	-14.1798	10.038	0.42139	0.0:0.82:0.0:0.18	.	643	Q9UDR5	AASS_HUMAN	D	643	ENSP00000377040:N643D;ENSP00000403768:N643D	ENSP00000351834:N643D	N	-	1	0	AASS	121519082	0.991000	0.36638	0.990000	0.47175	0.853000	0.48598	2.419000	0.44671	1.173000	0.42796	-0.417000	0.06048	AAC		0.373	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		C	121731846	T	C	121731846	3	2	347	1	0	0	0	0	1	0	0	0	24	1841	64	4	881	4	AASS	7	121731846	Missense_Mutation	SNP	T	TCGA-29-1774-01A-01W-0639-09	14333168	121731846	37406817	12	18788											
GIMAP6	474344	genome.wustl.edu	37	7	150325403	150325403	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr7:150325403C>G	ENST00000328902.5	-	3	499	c.283G>C	c.(283-285)Gac>Cac	p.D95H	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	95	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGGTGTGTCAATCACCTCA	0.622																																																0			7											96	97	97					7																	150325403		2203	4300	6503	149956336	SO:0001583	missense	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.283G>C	7.37:g.150325403C>G	ENSP00000330374:p.Asp95His		149956336	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944018	0.53079	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.80994	-1.44	4.29	4.29	0.51040	AIG1 (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93553	0.6888	10	0.87932	D	0	.	12.1006	0.53780	0.0:1.0:0.0:0.0	.	95	Q6P9H5	GIMA6_HUMAN	H	95;156	ENSP00000330374:D95H	ENSP00000330374:D95H	D	-	1	0	GIMAP6	149956336	1.000000	0.71417	0.995000	0.50966	0.043000	0.13939	5.519000	0.67074	2.243000	0.73865	0.561000	0.74099	GAC		0.622	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		G	150325403	C	G	150325403	3	3	347	1	0	0	0	0	1	0	0	0	6383	826	29	3	599	3	GIMAP6	7	150325403	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09	28593557	150325403	8813260	13	18789											
BMP1	649	genome.wustl.edu	37	8	22054899	22054899	+	Silent	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr8:22054899G>A	ENST00000306385.5	+	15	2743	c.2073G>A	c.(2071-2073)gtG>gtA	p.V691V	BMP1_ENST00000306349.8_Silent_p.V691V|BMP1_ENST00000397816.3_Silent_p.V691V|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	691	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACACCGTGTCCAAAAAGG	0.567																																																0			8											232	211	218					8																	22054899		2203	4300	6503	22110844	SO:0001819	synonymous_variant	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2073G>A	8.37:g.22054899G>A			22110844	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	CCDS6026.1																																																																																				0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		A	22054899	G	A	22054899	2	1	347	1	0	0	0	0	0	0	0	1	1456	1364	48	2		2	BMP1	8	22054899	Silent	SNP	G	TCGA-29-1774-01A-01W-0639-09		22054899	124309123	14	18790											
CA1	759	genome.wustl.edu	37	8	86249260	86249260	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr8:86249260T>C	ENST00000523953.1	-	5	1314	c.268A>G	c.(268-270)Agg>Ggg	p.R90G	CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Missense_Mutation_p.R90G|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000523022.1_Missense_Mutation_p.R90G|CA1_ENST00000256119.5_Missense_Mutation_p.R90G|CA1_ENST00000542576.1_Missense_Mutation_p.R90G|CA1_ENST00000431316.1_Missense_Mutation_p.R90G			P00915	CAH1_HUMAN	carbonic anhydrase I	90					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TGAAAGAGCCTGTAGCTGTCA	0.423																																																0			8											107	103	105					8																	86249260		2203	4300	6503	86436512	SO:0001583	missense	759			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"Carbonic anhydrases"	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.268A>G	8.37:g.86249260T>C	ENSP00000430656:p.Arg90Gly		86436512		Missense_Mutation	SNP	ENST00000523953.1	37	CCDS6237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.50|15.50	2.852141|2.852141	0.51270|0.51270	.|.	.|.	ENSG00000133742|ENSG00000133742	ENST00000521679|ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000524324;ENST00000517618;ENST00000517590;ENST00000521846;ENST00000522579;ENST00000522814;ENST00000522662;ENST00000523858	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.71103	.|-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.44|5.44	1.66|1.66	0.24008|0.24008	.|Carbonic anhydrase, alpha-class, catalytic domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87269|0.87269	0.6135|0.6135	H|H	0.94264|0.94264	3.515|3.515	0.44736|0.44736	D|D	0.997731|0.997731	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.89037|0.89037	0.3446|0.3446	5|10	.|0.87932	.|D	.|0	-20.6621|-20.6621	14.131|14.131	0.65253|0.65253	0.0:0.0:0.6344:0.3656|0.0:0.0:0.6344:0.3656	.|.	.|90	.|P00915	.|CAH1_HUMAN	R|G	26|90;90;90;90;90;90;24;90;90;90;90;90;90;90	.|ENSP00000430656:R90G;ENSP00000256119:R90G;ENSP00000392338:R90G;ENSP00000443517:R90G;ENSP00000401551:R90G;ENSP00000429798:R90G;ENSP00000428923:R24G;ENSP00000430861:R90G;ENSP00000429843:R90G;ENSP00000430471:R90G;ENSP00000427852:R90G;ENSP00000430737:R90G;ENSP00000430372:R90G;ENSP00000430975:R90G	.|ENSP00000256119:R90G	Q|R	-|-	2|1	0|2	CA1|CA1	86436512|86436512	0.010000|0.010000	0.17322|0.17322	0.084000|0.084000	0.20598|0.20598	0.005000|0.005000	0.04900|0.04900	0.155000|0.155000	0.16362|0.16362	0.032000|0.032000	0.15435|0.15435	-0.340000|-0.340000	0.08031|0.08031	CAG|AGG		0.423	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		C	86249260	T	C	86249260	3	2	347	1	0	0	0	0	1	0	0	0	2510	1579	55	4	537	4	CA1	8	86249260	Missense_Mutation	SNP	T	TCGA-29-1774-01A-01W-0639-09	64194361	86249260	60114762	15	18791											
TRPS1	7227	genome.wustl.edu	37	8	116599478	116599478	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr8:116599478G>T	ENST00000220888.5	-	4	2570	c.2411C>A	c.(2410-2412)cCg>cAg	p.P804Q	TRPS1_ENST00000395715.3_Missense_Mutation_p.P817Q|TRPS1_ENST00000520276.1_Missense_Mutation_p.P808Q|TRPS1_ENST00000519674.1_Missense_Mutation_p.P804Q|TRPS1_ENST00000519076.1_Missense_Mutation_p.P558Q			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	804	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGTGTATGACGGACTCCCCCG	0.567									Langer-Giedion syndrome																																							0			8											159	166	164					8																	116599478		1978	4138	6116	116668653	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2411C>A	8.37:g.116599478G>T	ENSP00000220888:p.Pro804Gln		116668653	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.473284	0.84640	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98684	-5.07;-5.04;-5.01;-5.04;0.76	5.76	5.76	0.90799	.	0.142316	0.52532	D	0.000073	D	0.98548	0.9515	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99929	1.1304	10	0.87932	D	0	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	808;804;817	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Q	817;804;558;808;804	ENSP00000379065:P817Q;ENSP00000220888:P804Q;ENSP00000428910:P558Q;ENSP00000428680:P808Q;ENSP00000429174:P804Q	ENSP00000220888:P804Q	P	-	2	0	TRPS1	116668653	1.000000	0.71417	0.990000	0.47175	0.932000	0.56968	7.842000	0.86851	2.726000	0.93360	0.655000	0.94253	CCG		0.567	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116599478	G	T	116599478	3	4	347	1	0	0	0	0	1	0	0	0	16593	1116	39	3	1446	3	TRPS1	8	116599478	Missense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09	30350218	116599478	29764544	16	18792											
FAM75A6	389730	genome.wustl.edu	37	9	43627309	43627309	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr9:43627309T>C	ENST00000332857.6	-	4	1406	c.1378A>G	c.(1378-1380)Act>Gct	p.T460A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	460					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GACATTGTAGTCTCCCTTTGA	0.517																																																0			9											54	66	63					9																	43627309		614	1534	2148	43567305	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1378A>G	9.37:g.43627309T>C	ENSP00000329825:p.Thr460Ala		43567305		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	0.884	-0.727920	0.03158	.	.	ENSG00000185775	ENST00000332857	T	0.05855	3.38	2.5	0.489	0.16854	.	0.896444	0.09467	N	0.798143	T	0.03348	0.0097	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.20955	0.032	T	0.46470	-0.9189	10	0.02654	T	1	-0.2515	3.5273	0.07763	0.0:0.5695:0.267:0.1635	.	460	Q5VVP1	F75A6_HUMAN	A	460	ENSP00000329825:T460A	ENSP00000329825:T460A	T	-	1	0	FAM75A6	43567305	0.035000	0.19736	0.028000	0.17463	0.002000	0.02628	0.107000	0.15375	0.128000	0.18479	-0.562000	0.04174	ACT		0.517	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		C	43627309	T	C	43627309	3	2	347	1	0	0	0	0	1	0	0	0	5622	1667	58	4	2657	4	FAM75A6	9	43627309	Missense_Mutation	SNP	T	TCGA-29-1774-01A-01W-0639-09		43627309	97586122	17	18793											
AMBRA1	55626	genome.wustl.edu	37	11	46567322	46567322	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr11:46567322C>A	ENST00000458649.2	-	5	801	c.383G>T	c.(382-384)gGc>gTc	p.G128V	AMBRA1_ENST00000533727.1_Missense_Mutation_p.G128V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G128V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G128V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G128V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G128V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G128V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	128					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCTTTCACTGCCACCCTGTGA	0.473																																																0			11											70	62	65					11																	46567322		2201	4299	6500	46523898	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.383G>T	11.37:g.46567322C>A	ENSP00000415327:p.Gly128Val		46523898	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	C	22.1	4.241431	0.79912	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;0.999	T	0.61441	-0.7062	10	0.87932	D	0	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	128;128;128;128;128;128	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	V	128	ENSP00000318313:G128V;ENSP00000433372:G128V;ENSP00000431926:G128V;ENSP00000410899:G128V;ENSP00000298834:G128V;ENSP00000415327:G128V;ENSP00000433945:G128V	ENSP00000298834:G128V	G	-	2	0	AMBRA1	46523898	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.696000	0.84270	2.712000	0.92718	0.591000	0.81541	GGC		0.473	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		A	46567322	C	A	46567322	3	1	347	1	0	0	0	0	1	0	0	0	565	739	26	3	3303	3	AMBRA1	11	46567322	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09		46567322	88439194	18	18794											
BSCL2	26580	genome.wustl.edu	37	11	62472855	62472855	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr11:62472855C>A	ENST00000403550.1	-	2	553	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	BSCL2_ENST00000360796.5_Missense_Mutation_p.V108L|BSCL2_ENST00000407022.3_Missense_Mutation_p.V44L|BSCL2_ENST00000433053.1_Missense_Mutation_p.V108L|BSCL2_ENST00000421906.1_Missense_Mutation_p.V44L|BSCL2_ENST00000537604.1_Intron|BSCL2_ENST00000278893.7_Missense_Mutation_p.V44L|BSCL2_ENST00000405837.1_Missense_Mutation_p.V108L|GNG3_ENST00000294117.5_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	44					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGACAGACACCCAGAGCAAA	0.572																																																0			11											59	54	55					11																	62472855		2202	4299	6501	62229431	SO:0001583	missense	26580				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.130G>T	11.37:g.62472855C>A	ENSP00000385561:p.Val44Leu		62229431	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650769	0.87958	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000524862;ENST00000533982;ENST00000532818	D;D;D;D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.57	5.57	0.84162	.	0.000000	0.64402	U	0.000008	D	0.91119	0.7204	L	0.45352	1.415	0.58432	D	0.999998	P;P;P;D	0.63880	0.913;0.906;0.811;0.993	P;P;B;D	0.63381	0.623;0.617;0.383;0.914	D	0.88849	0.3318	10	0.26408	T	0.33	-21.0693	17.047	0.86507	0.0:1.0:0.0:0.0	.	44;44;108;44	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	L	108;108;44;108;44;44;44;44;108;44;108	ENSP00000385332:V108L;ENSP00000414002:V108L;ENSP00000278893:V44L;ENSP00000354032:V108L;ENSP00000385561:V44L;ENSP00000384080:V44L;ENSP00000413209:V44L;ENSP00000413340:V44L;ENSP00000433888:V108L;ENSP00000434149:V44L	ENSP00000278893:V44L	V	-	1	0	BSCL2	62229431	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.096000	0.50243	2.642000	0.89623	0.462000	0.41574	GTG		0.572	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		A	62472855	C	A	62472855	3	1	347	1	0	0	0	0	1	0	0	0	1527	507	18	3	1106	3	BSCL2	11	62472855	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09	15905533	62472855	72533661	19	18795											
COL2A1	1280	genome.wustl.edu	37	12	48393867	48393867	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr12:48393867C>T	ENST00000380518.3	-	2	291	c.127G>A	c.(127-129)Gat>Aat	p.D43N	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	43	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACATCCTTATCATTATACCTC	0.587																																																0			12											40	43	42					12																	48393867		2081	4217	6298	46680134	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.127G>A	12.37:g.48393867C>T	ENSP00000369889:p.Asp43Asn		46680134	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583723	0.46006	.	.	ENSG00000139219	ENST00000380518	T	0.64618	-0.11	4.66	4.66	0.58398	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.55481	1.735	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.52449	-0.8574	10	0.02654	T	1	.	16.8676	0.86033	0.0:1.0:0.0:0.0	.	43	P02458	CO2A1_HUMAN	N	43	ENSP00000369889:D43N	ENSP00000369889:D43N	D	-	1	0	COL2A1	46680134	0.943000	0.32029	1.000000	0.80357	0.998000	0.95712	2.095000	0.41729	2.584000	0.87258	0.563000	0.77884	GAT		0.587	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		T	48393867	C	T	48393867	3	4	347	1	0	0	0	0	1	0	0	0	3687	826	29	2	4548	2	COL2A1	12	48393867	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09		48393867	85458028	20	18796											
GALNT4	8693	genome.wustl.edu	37	12	89917762	89917762	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr12:89917762A>T	ENST00000529983.2	-	1	821	c.565T>A	c.(565-567)Tac>Aac	p.Y189N	POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.Y186N|POC1B-GALNT4_ENST00000547474.1_Intron|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|RP11-734K2.4_ENST00000605233.1_RNA	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	189	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TTGCTGATGTAAGTTTCAAGT	0.453											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			12											85	82	83					12																	89917762		1912	4121	6033	88441893	SO:0001583	missense	8693			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.565T>A	12.37:g.89917762A>T	ENSP00000436604:p.Tyr189Asn	1271	88441893	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941293	0.53079	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.65364	-0.15;-0.15	5.88	5.88	0.94601	Glycosyl transferase, family 2 (1);	.	.	.	.	D	0.85936	0.5813	H	0.96604	3.85	0.58432	D	0.999998	D;D	0.63880	0.992;0.993	D;D	0.72982	0.948;0.979	D	0.90538	0.4500	9	0.87932	D	0	.	15.4562	0.75314	1.0:0.0:0.0:0.0	.	186;189	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	N	186;189	ENSP00000447852:Y186N;ENSP00000436604:Y189N	ENSP00000436604:Y189N	Y	-	1	0	GALNT4;RP11-1109F11.4	88441893	1.000000	0.71417	0.882000	0.34594	0.199000	0.23934	9.225000	0.95219	2.246000	0.74042	0.533000	0.62120	TAC		0.453	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		T	89917762	A	T	89917762	3	4	347	1	0	0	0	0	1	0	0	0	6215	362	13	5	1175	5	GALNT4	12	89917762	Missense_Mutation	SNP	A	TCGA-29-1774-01A-01W-0639-09	41523895	89917762	43934133	21	18797											
ATP6V0A2	23545	genome.wustl.edu	37	12	124212338	124212338	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr12:124212338C>T	ENST00000330342.3	+	6	778	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	177					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGATTTGTGTCTGGCCTAATT	0.383																																																0			12											117	118	118					12																	124212338		2203	4300	6503	122778291	SO:0001583	missense	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.530C>T	12.37:g.124212338C>T	ENSP00000332247:p.Ser177Phe		122778291	A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006246	0.93287	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.86694	-2.16;-2.16	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93919	0.8054	M	0.78916	2.43	0.80722	D	1	B;D	0.89917	0.295;1.0	B;D	0.91635	0.246;0.999	D	0.93871	0.7162	10	0.87932	D	0	-29.2267	20.1775	0.98187	0.0:1.0:0.0:0.0	.	177;177	Q9Y487;Q8TBM3	VPP2_HUMAN;.	F	177;177;47	ENSP00000332247:S177F;ENSP00000443441:S47F	ENSP00000332247:S177F	S	+	2	0	ATP6V0A2	122778291	1.000000	0.71417	0.976000	0.42696	0.862000	0.49288	7.757000	0.85209	2.771000	0.95319	0.561000	0.74099	TCT		0.383	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		T	124212338	C	T	124212338	3	4	347	1	0	0	0	0	1	0	0	0	1169	913	32	2	552	2	ATP6V0A2	12	124212338	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09	34294576	124212338	9639557	22	18798											
FNDC3A	22862	genome.wustl.edu	37	13	49781277	49781277	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr13:49781277C>T	ENST00000492622.2	+	26	3648	c.3343C>T	c.(3343-3345)Cgc>Tgc	p.R1115C	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R1059C|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R1115C	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1115	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTGTGAATATCGCTTCCGTGT	0.488																																																0			13											106	99	101					13																	49781277		2203	4300	6503	48679278	SO:0001583	missense	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3343C>T	13.37:g.49781277C>T	ENSP00000417257:p.Arg1115Cys		48679278	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896069	0.33442	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.39592	1.07;1.07;1.08	5.23	5.23	0.72850	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	T	0.52141	0.1716	M	0.68952	2.095	0.80722	D	1	D;D	0.60575	0.988;0.98	P;B	0.50825	0.651;0.348	T	0.58250	-0.7669	10	0.87932	D	0	-16.485	14.3459	0.66662	0.1484:0.8516:0.0:0.0	.	1059;1115	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	C	1115;1051;1115;1059	ENSP00000417257:R1115C;ENSP00000441831:R1115C;ENSP00000381362:R1059C	ENSP00000338579:R1051C	R	+	1	0	FNDC3A	48679278	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	5.769000	0.68865	2.423000	0.82170	0.650000	0.86243	CGC		0.488	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		T	49781277	C	T	49781277	3	4	347	1	0	0	0	0	1	0	0	0	5969	884	31	1	3452	1	FNDC3A	13	49781277	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09		49781277	65388601	23	18799											
C15orf17	57184	genome.wustl.edu	37	15	75195002	75195002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr15:75195002G>T	ENST00000357635.5	-	5	875	c.555C>A	c.(553-555)tgC>tgA	p.C185*	FAM219B_ENST00000563706.1_5'Flank|CTD-2235H24.2_ENST00000564692.1_RNA|FAM219B_ENST00000565772.1_Nonsense_Mutation_p.C99*|FAM219B_ENST00000563119.1_Nonsense_Mutation_p.C185*	NM_020447.3	NP_065180.1	Q5XKK7	F219B_HUMAN	family with sequence similarity 219, member B	185																	GACAGCACCAGCAGCAGGAGC	0.567																																																0			15											122	109	114					15																	75195002		2197	4295	6492	72982055	SO:0001587	stop_gained	57184			AK000005	CCDS32295.1	15q23	2012-03-06	2012-03-06	2012-03-06	ENSG00000178761	ENSG00000178761			24695	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 17"	C15orf17		11214971	Standard	NM_020447		Approved	FLJ00005	uc002azh.4	Q5XKK7	OTTHUMG00000172715	ENST00000357635.5:c.555C>A	15.37:g.75195002G>T	ENSP00000350260:p.Cys185*		72982055	A8K4Q5|B4DK57|Q9NXY0	Nonsense_Mutation	SNP	ENST00000357635.5	37	CCDS32295.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587496	0.66105	.	.	ENSG00000178761	ENST00000357635	.	.	.	5.24	4.32	0.51571	.	0.099749	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.7496	10.6619	0.45706	0.0878:0.0:0.9122:0.0	.	.	.	.	X	185	.	ENSP00000350260:C185X	C	-	3	2	C15orf17	72982055	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.030000	0.49720	2.467000	0.83353	0.650000	0.86243	TGC		0.567	FAM219B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420165.1	NM_020447		T	75195002	G	T	75195002	4	4	347	1	0	0	0	0	0	1	0	0	1783	963	34	3	45	3	C15orf17	15	75195002	Nonsense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09		75195002	27336390	24	18800											
ADAT1	23536	genome.wustl.edu	37	16	75654591	75654591	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr16:75654591G>A	ENST00000307921.3	-	3	252	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	36					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CTTCACCACCGCTGCCAATAA	0.527																																																0			16											106	102	104					16																	75654591		2198	4300	6498	74212092	SO:0001583	missense	23536			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.107C>T	16.37:g.75654591G>A	ENSP00000310015:p.Ala36Val		74212092	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100500	0.76983	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	T	0.18502	2.21	5.59	4.64	0.57946	Adenosine deaminase/editase (1);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49799	-0.8901	10	0.72032	D	0.01	.	13.0722	0.59068	0.0775:0.0:0.9225:0.0	.	36	Q9BUB4	ADAT1_HUMAN	V	36;7	ENSP00000310015:A36V	ENSP00000310015:A36V	A	-	2	0	ADAT1	74212092	1.000000	0.71417	0.492000	0.27490	0.326000	0.28443	6.484000	0.73621	1.383000	0.46405	0.561000	0.74099	GCG		0.527	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		A	75654591	G	A	75654591	3	1	347	1	0	0	0	0	1	0	0	0	284	1087	38	1	1437	1	ADAT1	16	75654591	Missense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09		75654591	14700162	25	18801											
PLCG2	5336	genome.wustl.edu	37	16	81942086	81942086	+	Silent	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr16:81942086G>A	ENST00000359376.3	+	17	1837	c.1623G>A	c.(1621-1623)acG>acA	p.T541T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	541	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		T -> A (in dbSNP:rs11548657).		B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGAAGAGGACGAGTGCCGAGA	0.552																																																0			16											77	80	79					16																	81942086		2004	4172	6176	80499587	SO:0001819	synonymous_variant	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1623G>A	16.37:g.81942086G>A			80499587	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	CCDS42204.1																																																																																				0.552	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			A	81942086	G	A	81942086	2	1	347	1	0	0	0	0	0	0	0	1	12036	1045	37	1		1	PLCG2	16	81942086	Silent	SNP	G	TCGA-29-1774-01A-01W-0639-09	6287495	81942086	8412667	26	18802											
CA5A	763	genome.wustl.edu	37	16	87921742	87921742	+	Missense_Mutation	SNP	C	C	T	rs368142668		TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr16:87921742C>T	ENST00000309893.2	-	7	976	c.911G>A	c.(910-912)aGg>aAg	p.R304K		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	304					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	TCTCTAGGACCTTGTGCCCTC	0.473																																																0			16						C	LYS/ARG	1,4395	2.1+/-5.4	0,1,2197	96	83	88		911	1.4	0	16		88	0,8600		0,0,4300	no	missense	CA5A	NM_001739.1	26	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	304/306	87921742	1,12995	2198	4300	6498	86479243	SO:0001583	missense	763			L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"Carbonic anhydrases"	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.911G>A	16.37:g.87921742C>T	ENSP00000309649:p.Arg304Lys		86479243	B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	c	10.78	1.446245	0.25987	2.27E-4	0.0	ENSG00000174990	ENST00000309893	T	0.66638	-0.22	3.51	1.44	0.22558	.	1.423260	0.05564	U	0.569872	T	0.54046	0.1834	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31833	-0.9929	10	0.20046	T	0.44	-0.0654	5.2795	0.15668	0.0:0.7239:0.0:0.2761	.	304	P35218	CAH5A_HUMAN	K	304	ENSP00000309649:R304K	ENSP00000309649:R304K	R	-	2	0	CA5A	86479243	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.417000	0.21214	0.729000	0.32403	0.313000	0.20887	AGG		0.473	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		T	87921742	C	T	87921742	3	4	347	1	0	0	0	0	1	0	0	0	2519	681	24	2	10	2	CA5A	16	87921742	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09	5979656	87921742	2433011	27	18803											
TEKT3	64518	genome.wustl.edu	37	17	15217485	15217485	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr17:15217485C>T	ENST00000395930.1	-	6	983	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	TEKT3_ENST00000338696.2_Missense_Mutation_p.R266Q|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	266					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GTCGTCGATCCGGTAAGCCGT	0.567																																																0			17											264	167	200					17																	15217485		2203	4300	6503	15158210	SO:0001583	missense	64518			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.797G>A	17.37:g.15217485C>T	ENSP00000379263:p.Arg266Gln		15158210	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726430	0.30593	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02446	4.29;4.29;4.29	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.05090	0.0136	M	0.64260	1.97	0.49389	D	0.999786	B	0.06786	0.001	B	0.11329	0.006	T	0.35847	-0.9772	10	0.27082	T	0.32	-13.2261	14.451	0.67385	0.0:0.9273:0.0:0.0727	.	266	Q9BXF9	TEKT3_HUMAN	Q	266;266;100	ENSP00000379263:R266Q;ENSP00000343995:R266Q;ENSP00000443280:R100Q	ENSP00000343995:R266Q	R	-	2	0	TEKT3	15158210	0.997000	0.39634	0.177000	0.23020	0.051000	0.14879	4.703000	0.61824	2.549000	0.85964	0.655000	0.94253	CGG		0.567	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		T	15217485	C	T	15217485	3	4	347	1	0	0	0	0	1	0	0	0	15754	652	23	1	691	1	TEKT3	17	15217485	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09		15217485	65977725	28	18804											
CNP	1267	genome.wustl.edu	37	17	40120332	40120332	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr17:40120332G>C	ENST00000393892.3	+	2	394	c.250G>C	c.(250-252)Gac>Cac	p.D84H	TTC25_ENST00000591658.1_RNA|CNP_ENST00000472031.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.D64H|CNP_ENST00000591072.1_Intron|CNP_ENST00000592446.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	84					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGTGTCGGCTGACGCTTACAA	0.637																																																0			17											31	34	33					17																	40120332		2089	4203	6292	37373858	SO:0001583	missense	1267				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.250G>C	17.37:g.40120332G>C	ENSP00000377470:p.Asp84His		37373858		Missense_Mutation	SNP	ENST00000393892.3	37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069619	0.76301	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.60171	0.21;0.21	4.63	4.63	0.57726	Zeta toxin domain (1);	0.211620	0.47455	D	0.000232	D	0.82421	0.5033	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.985;0.982	D	0.87493	0.2428	10	0.87932	D	0	-23.5762	18.0265	0.89270	0.0:0.0:1.0:0.0	.	84;84;64	B4DI06;P09543;P09543-2	.;CN37_HUMAN;.	H	84;84;64	ENSP00000377470:D84H;ENSP00000377466:D64H	ENSP00000309643:D84H	D	+	1	0	CNP	37373858	1.000000	0.71417	0.178000	0.23040	0.574000	0.36063	8.371000	0.90123	2.557000	0.86248	0.455000	0.32223	GAC		0.637	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			C	40120332	G	C	40120332	3	2	347	1	0	0	0	0	1	0	0	0	3626	1290	45	3	256	3	CNP	17	40120332	Missense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09	24902847	40120332	41074878	29	18805											
C17orf53	78995	genome.wustl.edu	37	17	42230075	42230075	+	Missense_Mutation	SNP	C	C	T	rs146791155		TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr17:42230075C>T	ENST00000319977.4	+	5	1616	c.1379C>T	c.(1378-1380)aCg>aTg	p.T460M	C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Missense_Mutation_p.T460M	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	460										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATGAAATCCACGCTAGGCCTG	0.562																																																0			17						C	MET/THR,MET/THR	0,4406		0,0,2203	134	118	123		1379,1379	1.2	0.3	17	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C17orf53	NM_001171251.1,NM_024032.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	460/647,460/648	42230075	1,13005	2203	4300	6503	39585601	SO:0001583	missense	78995			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1379C>T	17.37:g.42230075C>T	ENSP00000313500:p.Thr460Met		39585601	A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049088	0.36181	0.0	1.16E-4	ENSG00000125319	ENST00000319977	T	0.44881	0.91	5.76	1.19	0.21007	.	0.815462	0.10733	N	0.640423	T	0.25195	0.0612	N	0.22421	0.69	0.80722	D	1	B;B	0.32031	0.352;0.352	B;B	0.28553	0.091;0.091	T	0.07829	-1.0752	10	0.54805	T	0.06	-0.2248	5.366	0.16113	0.4652:0.3672:0.0:0.1676	.	460;460	A8K7A9;Q8N3J3	.;CQ053_HUMAN	M	460	ENSP00000313500:T460M	ENSP00000313500:T460M	T	+	2	0	C17orf53	39585601	0.978000	0.34361	0.286000	0.24833	0.742000	0.42306	2.846000	0.48262	0.368000	0.24481	-0.263000	0.10527	ACG		0.562	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		T	42230075	C	T	42230075	3	4	347	1	0	0	0	0	1	0	0	0	1862	536	19	1	1397	1	C17orf53	17	42230075	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09	2109743	42230075	38965135	30	18806											
ZNF77	58492	genome.wustl.edu	37	19	2934297	2934297	+	Silent	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr19:2934297G>T	ENST00000314531.4	-	4	920	c.828C>A	c.(826-828)gcC>gcA	p.A276A		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGCTGAAGGCTTTCCCAC	0.438																																																0			19											116	106	110					19																	2934297		2203	4300	6503	2885297	SO:0001819	synonymous_variant	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.828C>A	19.37:g.2934297G>T			2885297	Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	37	CCDS12099.1																																																																																				0.438	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		T	2934297	G	T	2934297	2	4	347	1	0	0	0	0	0	0	0	1	18142	987	35	3		3	ZNF77	19	2934297	Silent	SNP	G	TCGA-29-1774-01A-01W-0639-09		2934297	56194686	31	18807											
SPTBN4	57731	genome.wustl.edu	37	19	41081355	41081355	+	Silent	SNP	G	G	C			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr19:41081355G>C	ENST00000352632.3	+	36	7661	c.7575G>C	c.(7573-7575)tcG>tcC	p.S2525S	SHKBP1_ENST00000291842.5_5'Flank|SPTBN4_ENST00000392025.1_Silent_p.S1268S|SPTBN4_ENST00000593816.1_3'UTR|SHKBP1_ENST00000600733.1_5'Flank|SPTBN4_ENST00000598249.1_Silent_p.S2525S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2525	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAGCTTCCTCGGTGGCGGAAC	0.582																																																0			19											34	29	31					19																	41081355		2203	4300	6503	45773195	SO:0001819	synonymous_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7575G>C	19.37:g.41081355G>C			45773195	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																				0.582	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			C	41081355	G	C	41081355	2	2	347	1	0	0	0	0	0	0	0	1	15123	1103	39	3		3	SPTBN4	19	41081355	Silent	SNP	G	TCGA-29-1774-01A-01W-0639-09	38147058	41081355	18047628	32	18808											
SIGLEC8	27181	genome.wustl.edu	37	19	51961478	51961478	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr19:51961478C>A	ENST00000321424.3	-	1	230	c.164G>T	c.(163-165)gGc>gTc	p.G55V	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G55V|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G55V	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	55	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTCAGTCCAGCCATCCTGGGG	0.577																																																0			19											132	113	120					19																	51961478		2203	4300	6503	56653290	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.164G>T	19.37:g.51961478C>A	ENSP00000321077:p.Gly55Val		56653290	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	5.916	0.352988	0.11182	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.21543	2.0;2.0;2.0	2.14	-4.28	0.03732	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	3.595810	0.00799	N	0.001412	T	0.22666	0.0547	M	0.82630	2.6	0.09310	N	1	B;B;B	0.33103	0.059;0.397;0.205	B;B;B	0.32022	0.114;0.122;0.139	T	0.31447	-0.9943	10	0.19147	T	0.46	.	0.6223	0.00780	0.2437:0.2808:0.1222:0.3533	.	55;55;55	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	V	55	ENSP00000389142:G55V;ENSP00000321077:G55V;ENSP00000339448:G55V	ENSP00000321077:G55V	G	-	2	0	SIGLEC8	56653290	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-5.025000	0.00159	-3.512000	0.00149	-1.332000	0.01269	GGC		0.577	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		A	51961478	C	A	51961478	3	1	347	1	0	0	0	0	1	0	0	0	14317	739	26	3	1363	3	SIGLEC8	19	51961478	Missense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09	10880123	51961478	7167505	33	18809											
SIRPA	140885	genome.wustl.edu	37	20	1915398	1915398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr20:1915398C>T	ENST00000358771.4	+	7	1416	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	SIRPA_ENST00000400068.3_Nonsense_Mutation_p.Q422*|SIRPA_ENST00000356025.3_Nonsense_Mutation_p.Q422*	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	422					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGAAATAACACAGGTACAGTC	0.453																																					GBM(155;1668 1920 5945 42733 48121)											0			20											156	135	142					20																	1915398		2203	4300	6503	1863398	SO:0001587	stop_gained	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1264C>T	20.37:g.1915398C>T	ENSP00000351621:p.Gln422*		1863398	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Nonsense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	36	5.786917	0.96937	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	.	.	.	4.43	4.43	0.53597	.	0.000000	0.41097	D	0.000946	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	12.7286	0.57185	0.0:1.0:0.0:0.0	.	.	.	.	X	422	.	ENSP00000348307:Q422X	Q	+	1	0	SIRPA	1863398	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.136000	0.58004	2.456000	0.83038	0.561000	0.74099	CAG		0.453	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		T	1915398	C	T	1915398	4	4	347	1	0	0	0	0	0	1	0	0	14335	479	17	2	1290	2	SIRPA	20	1915398	Nonsense_Mutation	SNP	C	TCGA-29-1774-01A-01W-0639-09		1915398	61110122	34	18810											
RBL1	5933	genome.wustl.edu	37	20	35635838	35635838	+	Silent	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr20:35635838G>A	ENST00000373664.3	-	20	2913	c.2847C>T	c.(2845-2847)taC>taT	p.Y949Y	RBL1_ENST00000344359.3_Silent_p.Y949Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	949	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.Y949Y(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCGCCAAGTCGTATTTCAGTG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	20											141	136	138					20																	35635838		2203	4300	6503	35069252	SO:0001819	synonymous_variant	5933			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2847C>T	20.37:g.35635838G>A			35069252	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	CCDS13289.1																																																																																				0.328	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		A	35635838	G	A	35635838	2	1	347	1	0	0	0	0	0	0	0	1	13112	1140	40	1		1	RBL1	20	35635838	Silent	SNP	G	TCGA-29-1774-01A-01W-0639-09	33720440	35635838	27389682	35	18811											
SLC12A5	57468	genome.wustl.edu	37	20	44685812	44685812	+	Silent	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr20:44685812C>T	ENST00000454036.2	+	25	3247	c.3198C>T	c.(3196-3198)aaC>aaT	p.N1066N	SLC12A5_ENST00000243964.3_Silent_p.N1043N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1066					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCGCAGGAACCAGTCCAACG	0.637																																																0			20											48	50	50					20																	44685812		2203	4300	6503	44119219	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3198C>T	20.37:g.44685812C>T			44119219	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	CCDS46610.1																																																																																				0.637	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44685812	C	T	44685812	2	4	347	1	0	0	0	0	0	0	0	1	14389	506	18	2		2	SLC12A5	20	44685812	Silent	SNP	C	TCGA-29-1774-01A-01W-0639-09	9049974	44685812	18339708	36	18812											
TPTE	7179	genome.wustl.edu	37	21	10941965	10941965	+	Silent	SNP	A	A	G			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr21:10941965A>G	ENST00000361285.4	-	14	1067	c.738T>C	c.(736-738)atT>atC	p.I246I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.I228I|TPTE_ENST00000342420.5_Silent_p.I208I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	246	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATAGCAATAATACGTTCTA	0.284																																																0			21											196	188	191					21																	10941965		2203	4296	6499	9963836	SO:0001819	synonymous_variant	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.738T>C	21.37:g.10941965A>G			9963836	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	CCDS13560.2																																																																																				0.284	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			G	10941965	A	G	10941965	2	3	347	1	0	0	0	0	0	0	0	1	16430	358	13	4		4	TPTE	21	10941965	Silent	SNP	A	TCGA-29-1774-01A-01W-0639-09		10941965	37187930	37	18813											
TOM1	10043	genome.wustl.edu	37	22	35719857	35719857	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr22:35719857G>A	ENST00000449058.2	+	6	723	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	TOM1_ENST00000436462.2_Missense_Mutation_p.A162T|TOM1_ENST00000382034.5_Missense_Mutation_p.A133T|TOM1_ENST00000425375.1_Missense_Mutation_p.A155T|TOM1_ENST00000447733.1_Missense_Mutation_p.A167T|TOM1_ENST00000411850.1_Missense_Mutation_p.A200T	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	200					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCCTCTGCCCGCCCCGCCCAT	0.617																																																0			22											62	60	61					22																	35719857		2203	4300	6503	34049857	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.598G>A	22.37:g.35719857G>A	ENSP00000394466:p.Ala200Thr		34049857	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	G	7.015	0.557635	0.13436	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;2.0;1.0;1.0	4.87	-8.69	0.00855	.	0.955971	0.08715	N	0.904412	T	0.12561	0.0305	N	0.01505	-0.83	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	T	0.39375	-0.9617	10	0.13853	T	0.58	-1.3676	10.7814	0.46379	0.1533:0.1389:0.6195:0.0883	.	155;162;209;200;200	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	T	167;194;200;200;155;209;162;133	ENSP00000398876:A167T;ENSP00000393714:A194T;ENSP00000394466:A200T;ENSP00000413697:A200T;ENSP00000394924:A155T;ENSP00000402556:A162T;ENSP00000371465:A133T	ENSP00000371465:A133T	A	+	1	0	TOM1	34049857	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.668000	0.01959	-2.059000	0.00894	-1.021000	0.02439	GCC		0.617	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		A	35719857	G	A	35719857	3	1	347	1	0	0	0	0	1	0	0	0	16351	1087	38	1	620	1	TOM1	22	35719857	Missense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09		35719857	15584709	38	18814											
FBLN1	2192	genome.wustl.edu	37	22	45958907	45958907	+	Intron	SNP	C	C	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chr22:45958907C>T	ENST00000327858.6	+	15	1792				FBLN1_ENST00000402984.3_Missense_Mutation_p.R643C|FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.R605C	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTGGTTTTCCGCATGGGCCC	0.617																																																0			22											65	79	74					22																	45958907		2203	4300	6503	44337571	SO:0001627	intron_variant	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-11484C>T	22.37:g.45958907C>T			44337571	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770708	0.90108	.	.	ENSG00000077942	ENST00000402984;ENST00000262722	D;D	0.87179	-2.22;-2.09	4.86	4.86	0.63082	.	.	.	.	.	D	0.90508	0.7026	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.59424	0.794;0.857	D	0.91588	0.5284	9	0.66056	D	0.02	.	17.9749	0.89124	0.0:1.0:0.0:0.0	.	643;605	B1AHL2;P23142-4	.;.	C	643;605	ENSP00000385521:R643C;ENSP00000262722:R605C	ENSP00000262722:R605C	R	+	1	0	FBLN1	44337571	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.266000	0.78452	2.240000	0.73641	0.313000	0.20887	CGC		0.617	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		T	45958907	C	T	45958907	1	4	347	0	1	0	0	0	0	0	0	0	5698	652	23	1		1	FBLN1	22	45958907	Intron	SNP	C	TCGA-29-1774-01A-01W-0639-09	10239050	45958907	5345659	39	18815											
DGKK	139189	genome.wustl.edu	37	X	50213220	50213220	+	RNA	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chrX:50213220G>T	ENST00000376025.2	-	0	517							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					Ttctggggtcggctctggggc	0.637																																																0			X											28	31	30					X																	50213220		1883	4092	5975	50229960			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213220G>T			50229960	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.637	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		T	50213220	G	T	50213220	1	4	347	0	1	0	0	0	0	0	0	0	4472	1116	39	3		3	DGKK	23	50213220	RNA	SNP	G	TCGA-29-1774-01A-01W-0639-09		50213220	105057340	40	18816											
HMGB3	3149	genome.wustl.edu	37	X	150155688	150155688	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1774-01A-01W-0639-09	TCGA-29-1774-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f075d72a-5f51-48f1-93a9-09249367f8ce	f29efd01-7121-4d99-a78b-10aeb8b1678e	g.chrX:150155688G>T	ENST00000325307.7	+	4	474	c.378G>T	c.(376-378)aaG>aaT	p.K126N	HMGB3_ENST00000448905.2_Missense_Mutation_p.K126N	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	126					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAAAAAAGCTGGGTGAGA	0.453																																																0			X											43	42	43					X																	150155688		2203	4298	6501	149906346	SO:0001583	missense	3149			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.378G>T	X.37:g.150155688G>T	ENSP00000359393:p.Lys126Asn		149906346	O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	16.56	3.156838	0.57259	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905;ENST00000430118	D;D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77;-4.77	4.95	4.09	0.47781	High mobility group, HMG1/HMG2, subgroup (2);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.059448	0.64402	N	0.000005	D	0.98776	0.9588	M	0.87269	2.87	0.48762	D	0.999701	D	0.71674	0.998	D	0.74023	0.982	D	0.98948	1.0793	10	0.66056	D	0.02	.	10.0149	0.42008	0.1755:0.0:0.8245:0.0	.	126	O15347	HMGB3_HUMAN	N	126	ENSP00000410354:K126N;ENSP00000359393:K126N;ENSP00000405601:K126N;ENSP00000442758:K126N;ENSP00000417027:K126N	ENSP00000359393:K126N	K	+	3	2	HMGB3	149906346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.607000	0.46300	0.870000	0.35726	0.529000	0.55759	AAG		0.453	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		T	150155688	G	T	150155688	3	4	347	1	0	0	0	0	1	0	0	0	7227	962	34	3	388	3	HMGB3	23	150155688	Missense_Mutation	SNP	G	TCGA-29-1774-01A-01W-0639-09	99942468	150155688	5114872	41	18817											
KLHDC7A	127707	genome.wustl.edu	37	1	18809765	18809765	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:18809765G>A	ENST00000400664.1	+	1	2342	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	764						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGTCCTGACCTT	0.652																																																0			1											63	68	67					1																	18809765		2202	4299	6501	18682352	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2290G>A	1.37:g.18809765G>A	ENSP00000383505:p.Val764Ile		18682352	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235566	0.22626	.	.	ENSG00000179023	ENST00000400664	T	0.16457	2.34	5.32	4.4	0.53042	.	0.000000	0.64402	D	0.000002	T	0.23846	0.0577	L	0.58969	1.84	0.36171	D	0.848791	D	0.69078	0.997	P	0.47402	0.546	T	0.30851	-0.9964	10	0.66056	D	0.02	.	12.5737	0.56352	0.0816:0.0:0.9184:0.0	.	764	Q5VTJ3	KLD7A_HUMAN	I	764	ENSP00000383505:V764I	ENSP00000383505:V764I	V	+	1	0	KLHDC7A	18682352	0.988000	0.35896	0.423000	0.26634	0.035000	0.12851	1.956000	0.40382	1.209000	0.43321	0.655000	0.94253	GTC		0.652	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18809765	G	A	18809765	3	1	348	1	0	0	0	0	1	0	0	0	8360	1145	40	1	2292	1	KLHDC7A	1	18809765	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09		18809765	230440856	1	18818											
AKR7L	246181	genome.wustl.edu	37	1	19600386	19600386	+	RNA	SNP	C	C	T	rs112053480	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:19600386C>T	ENST00000429712.1	-	0	302				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TTCGGAGCCCCAGGCCGCCAA	0.682													C|||	536	0.107029	0.2859	0.0764	5008	,	,		15326	0		0.0944	False		,,,				2504	0.0102															0			1						C		353,1027		53,247,390	34	40	38			3.2	1	1	dbSNP_132	38	305,2877		25,255,1311	no	intergenic				78,502,1701	TT,TC,CC		9.5852,25.5797,14.4235			19600386	658,3904	690	1591	2281	19472973			246181					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19600386C>T			19472973	Q5U614	Silent	SNP	ENST00000429712.1	37		237	0.10851648351648352	134	0.27235772357723576	31	0.0856353591160221	0	0.0	72	0.09498680738786279	C	1.618	-0.522172	0.04171	0.255797	0.095852	ENSG00000211454	ENST00000457194	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3012	0.60326	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	.	W	-	2	0	AKR7L	19472973	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.448000	0.60027	1.772000	0.52199	0.195000	0.17529	TGG		0.682	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		T	19600386	C	T	19600386	1	4	348	0	1	0	0	0	0	0	0	0	477	581	21	2		2	AKR7L	1	19600386	RNA	SNP	C	TCGA-29-1775-01A-01W-0639-09	790621	19600386	229650235	2	18819											
FGGY	55277	genome.wustl.edu	37	1	60073477	60073477	+	Silent	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:60073477C>T	ENST00000303721.7	+	9	1080	c.906C>T	c.(904-906)atC>atT	p.I302I	FGGY_ENST00000371212.1_Silent_p.I214I|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Silent_p.I302I|FGGY_ENST00000371210.1_Silent_p.I3I	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	302					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTTTCCAGATCAGCAAAGACC	0.463																																																0			1											109	113	111					1																	60073477		2203	4300	6503	59846065	SO:0001819	synonymous_variant	55277				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.906C>T	1.37:g.60073477C>T			59846065	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	CCDS611.2																																																																																				0.463	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		T	60073477	C	T	60073477	2	4	348	1	0	0	0	0	0	0	0	1	5871	816	29	2		2	FGGY	1	60073477	Silent	SNP	C	TCGA-29-1775-01A-01W-0639-09	40473091	60073477	189177144	3	18820											
LHX8	431707	genome.wustl.edu	37	1	75626572	75626572	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:75626572C>T	ENST00000294638.5	+	10	1727	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	LHX8_ENST00000356261.3_Missense_Mutation_p.H345Y	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	355					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GCCAATAAGTCATACCTAATT	0.308																																																0			1											122	120	120					1																	75626572		2203	4299	6502	75399160	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.1063C>T	1.37:g.75626572C>T	ENSP00000294638:p.His355Tyr		75399160	E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836593	0.71373	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86230	-2.09;-2.07	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.88551	0.6467	L	0.29908	0.895	0.58432	D	0.99999	D	0.57899	0.981	D	0.67900	0.954	D	0.89649	0.3868	10	0.72032	D	0.01	.	19.8961	0.96958	0.0:1.0:0.0:0.0	.	355	Q68G74	LHX8_HUMAN	Y	355;345	ENSP00000294638:H355Y;ENSP00000348597:H345Y	ENSP00000294638:H355Y	H	+	1	0	LHX8	75399160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.982000	0.76173	2.699000	0.92147	0.655000	0.94253	CAT		0.308	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		T	75626572	C	T	75626572	3	4	348	1	0	0	0	0	1	0	0	0	8776	826	29	2	1097	2	LHX8	1	75626572	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	15553095	75626572	173624049	4	18821											
SLC44A5	204962	genome.wustl.edu	37	1	75683566	75683566	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:75683566C>G	ENST00000370855.5	-	18	1722	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	SLC44A5_ENST00000370859.3_Missense_Mutation_p.D537H|SLC44A5_ENST00000535611.1_Missense_Mutation_p.D407H	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	537					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGACGGTGGTCCAAGTATTCT	0.348																																																0			1											56	59	58					1																	75683566		2203	4299	6502	75456154	SO:0001583	missense	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1609G>C	1.37:g.75683566C>G	ENSP00000359892:p.Asp537His		75456154	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	c	13.39	2.221992	0.39300	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.23950	1.88;1.88;1.88	5.93	2.66	0.31614	.	0.243530	0.47093	D	0.000251	T	0.32010	0.0815	L	0.61387	1.9	0.41759	D	0.989707	P;D;D;D;D	0.76494	0.578;0.971;0.983;0.999;0.963	P;P;P;D;P	0.78314	0.476;0.838;0.907;0.991;0.79	T	0.05338	-1.0891	10	0.29301	T	0.29	-6.5784	12.9321	0.58292	0.0:0.7953:0.0:0.2047	.	531;576;537;537;576	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	H	537;576;537;407;530	ENSP00000359896:D537H;ENSP00000359892:D537H;ENSP00000443090:D407H	ENSP00000359892:D537H	D	-	1	0	SLC44A5	75456154	1.000000	0.71417	0.796000	0.32109	0.006000	0.05464	2.517000	0.45529	0.879000	0.35944	-0.698000	0.03680	GAC		0.348	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		G	75683566	C	G	75683566	3	3	348	1	0	0	0	0	1	0	0	0	14642	855	30	3	689	3	SLC44A5	1	75683566	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	56994	75683566	173567055	5	18822											
HS2ST1	9653	genome.wustl.edu	37	1	87558328	87558328	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:87558328G>A	ENST00000370550.5	+	4	927	c.564G>A	c.(562-564)cgG>cgA	p.R188R	RP5-1052I5.2_ENST00000370548.2_Silent_p.R162R|HS2ST1_ENST00000356813.4_Silent_p.R162R|HS2ST1_ENST00000370551.4_Silent_p.R188R	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	188					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CAGGGTTACGGAGACGAAAAC	0.303																																																0			1											71	77	75					1																	87558328		2203	4295	6498	87330916	SO:0001819	synonymous_variant	9653			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"Sulfotransferases, membrane-bound"	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.564G>A	1.37:g.87558328G>A			87330916	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Silent	SNP	ENST00000370550.5	37	CCDS711.1																																																																																				0.303	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		A	87558328	G	A	87558328	2	1	348	1	0	0	0	0	0	0	0	1	7362	1161	41	2		2	HS2ST1	1	87558328	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	11874762	87558328	161692293	6	18823											
SPAG17	200162	genome.wustl.edu	37	1	118516151	118516151	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:118516151G>T	ENST00000336338.5	-	44	6103	c.6038C>A	c.(6037-6039)aCc>aAc	p.T2013N	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2013						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAAGGACTGGGTTGGAATTTT	0.393																																																0			1											122	120	121					1																	118516151		2203	4300	6503	118317674	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6038C>A	1.37:g.118516151G>T	ENSP00000337804:p.Thr2013Asn		118317674	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438354	0.43326	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.23754	1.89	5.1	3.23	0.37069	.	0.936197	0.09067	N	0.853421	T	0.28267	0.0698	M	0.73598	2.24	0.25390	N	0.988538	D	0.61697	0.99	P	0.58454	0.839	T	0.10200	-1.0640	10	0.54805	T	0.06	.	7.4478	0.27221	0.1916:0.0:0.8084:0.0	.	2013	Q6Q759	SPG17_HUMAN	N	2013;493	ENSP00000337804:T2013N	ENSP00000337804:T2013N	T	-	2	0	SPAG17	118317674	1.000000	0.71417	0.942000	0.38095	0.267000	0.26476	2.564000	0.45931	0.733000	0.32492	0.561000	0.74099	ACC		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118516151	G	T	118516151	3	4	348	1	0	0	0	0	1	0	0	0	14982	1261	44	3	653	3	SPAG17	1	118516151	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	30957823	118516151	130734470	7	18824											
IVL	3713	genome.wustl.edu	37	1	152883786	152883786	+	Missense_Mutation	SNP	C	C	G	rs149718823	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:152883786C>G	ENST00000368764.3	+	2	1577	c.1513C>G	c.(1513-1515)Cag>Gag	p.Q505E	IVL_ENST00000392667.2_Missense_Mutation_p.Q359E			P07476	INVO_HUMAN	involucrin	505	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcacctggaacagcaggaaaa	0.602													C|||	60	0.0119808	0	0.0836	5008	,	,		20126	0		0.002	False		,,,				2504	0															0			1						C	GLU/GLN	6,4388		0,6,2191	87	83	85		1513	-3.7	0	1	dbSNP_134	85	6,8566		0,6,4280	yes	missense	IVL	NM_005547.2	29	0,12,6471	GG,GC,CC		0.07,0.1365,0.0925	possibly-damaging	505/586	152883786	12,12954	2197	4286	6483	151150410	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1513C>G	1.37:g.152883786C>G	ENSP00000357753:p.Gln505Glu		151150410	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	28	0.01282051282051282	0	0.0	26	0.0718232044198895	0	0.0	2	0.002638522427440633	C	5.234	0.228630	0.09916	0.001365	7.0E-4	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.16073	2.86;2.37	3.39	-3.71	0.04424	.	.	.	.	.	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	B	0.25563	0.129	B	0.27262	0.078	T	0.45366	-0.9266	9	0.02654	T	1	.	9.8528	0.41068	0.0:0.3164:0.586:0.0976	.	505	P07476	INVO_HUMAN	E	505;359	ENSP00000357753:Q505E;ENSP00000376435:Q359E	ENSP00000357753:Q505E	Q	+	1	0	IVL	151150410	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.444000	0.07170	-0.300000	0.09419	CAG		0.602	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		G	152883786	C	G	152883786	3	3	348	1	0	0	0	0	1	0	0	0	7929	479	17	3	1515	3	IVL	1	152883786	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	34367635	152883786	96366835	8	18825											
C1orf104	23623	genome.wustl.edu	37	1	155290860	155290860	+	Intron	SNP	A	A	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:155290860A>C	ENST00000368352.5	+	1	65				RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAGCAGGAGAAATGAATAGAG	0.642																																																0			1											70	88	82					1																	155290860		2086	4199	6285	153557484	SO:0001627	intron_variant	284618			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-87+78A>C	1.37:g.155290860A>C			153557484	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																				0.642	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			C	155290860	A	C	155290860	1	2	348	0	1	0	0	0	0	0	0	0	1978	10	1	5		5	C1orf104	1	155290860	Intron	SNP	A	TCGA-29-1775-01A-01W-0639-09	2407074	155290860	93959761	9	18826											
CD244	51744	genome.wustl.edu	37	1	160808240	160808240	+	Splice_Site	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:160808240C>T	ENST00000368033.3	-	5	932		c.e5+1		CD244_ENST00000368034.4_Splice_Site|CD244_ENST00000322302.7_Splice_Site|CD244_ENST00000481677.1_Splice_Site|CD244_ENST00000368032.2_Splice_Site			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGATGACATACGTGATTTCTC	0.463																																																0			1											154	157	156					1																	160808240		2203	4300	6503	159074864	SO:0001630	splice_region_variant	51744			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.849+1G>A	1.37:g.160808240C>T			159074864	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Splice_Site	SNP	ENST00000368033.3	37	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901894	0.17760	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	.	.	.	4.61	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.30715	N	0.748824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4996	0.44798	0.0:0.7933:0.2067:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD244	159074864	0.922000	0.31269	0.016000	0.15963	0.006000	0.05464	1.046000	0.30354	1.250000	0.43966	0.655000	0.94253	.		0.463	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382	Intron	T	160808240	C	T	160808240	5	4	348	1	0	0	0	0	0	0	1	0	2987	550	19	1	282	1	CD244	1	160808240	Splice_Site	SNP	C	TCGA-29-1775-01A-01W-0639-09	5517380	160808240	88442381	10	18827											
RXRG	6258	genome.wustl.edu	37	1	165376074	165376074	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:165376074G>T	ENST00000359842.5	-	9	1521	c.1219C>A	c.(1219-1221)Cag>Aag	p.Q407K		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	407	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GGATACTTCTGCTTGGTGTAG	0.527																																																0			1											202	156	172					1																	165376074		2203	4300	6503	163642698	SO:0001583	missense	6258			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1219C>A	1.37:g.165376074G>T	ENSP00000352900:p.Gln407Lys		163642698	A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394743	0.62066	.	.	ENSG00000143171	ENST00000359842	D	0.96168	-3.93	4.24	4.24	0.50183	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.125947	0.53938	D	0.000042	D	0.89842	0.6832	L	0.31926	0.97	0.42695	D	0.993595	P	0.38280	0.625	B	0.40741	0.339	D	0.89498	0.3762	9	0.30078	T	0.28	.	15.7167	0.77672	0.0:0.0:1.0:0.0	.	407	P48443	RXRG_HUMAN	K	407	ENSP00000352900:Q407K	ENSP00000352900:Q407K	Q	-	1	0	RXRG	163642698	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.336000	0.96533	2.332000	0.79248	0.563000	0.77884	CAG		0.527	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		T	165376074	G	T	165376074	3	4	348	1	0	0	0	0	1	0	0	0	13768	1328	46	3	180	3	RXRG	1	165376074	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	4567834	165376074	83874547	11	18828											
RC3H1	149041	genome.wustl.edu	37	1	173941647	173941647	+	Splice_Site	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:173941647C>T	ENST00000367696.2	-	8	1572	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	RC3H1_ENST00000367694.2_Splice_Site_p.Q407Q|RC3H1_ENST00000258349.4_Splice_Site_p.Q407Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	407					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTTCCTTACCTGCTGCTGAT	0.438																																																0			1											218	164	182					1																	173941647		2203	4300	6503	172208270	SO:0001630	splice_region_variant	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1221+1G>A	1.37:g.173941647C>T			172208270	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	37	CCDS30940.1																																																																																				0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	Silent	T	173941647	C	T	173941647	5	4	348	1	0	0	0	0	0	0	1	0	13169	695	24	2	2232	2	RC3H1	1	173941647	Splice_Site	SNP	C	TCGA-29-1775-01A-01W-0639-09	8565573	173941647	75308974	12	18829											
DHX9	1660	genome.wustl.edu	37	1	182812483	182812483	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:182812483G>C	ENST00000367549.3	+	3	276	c.166G>C	c.(166-168)Gat>Cat	p.D56H		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	56	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAATAAAAAAGATGCACAAAG	0.358																																					Colon(69;210 1162 3697 13559 39565)											0			1											93	89	90					1																	182812483		1816	4072	5888	181079106	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.166G>C	1.37:g.182812483G>C	ENSP00000356520:p.Asp56His		181079106	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712580	0.89112	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.77877	-1.13	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93031	0.6448	10	0.87932	D	0	.	18.8105	0.92056	0.0:0.0:1.0:0.0	.	56	Q08211	DHX9_HUMAN	H	56	ENSP00000356520:D56H	ENSP00000356520:D56H	D	+	1	0	DHX9	181079106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.951000	0.93025	2.805000	0.96524	0.655000	0.94253	GAT		0.358	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		C	182812483	G	C	182812483	3	2	348	1	0	0	0	0	1	0	0	0	4516	942	33	3	172	3	DHX9	1	182812483	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	8870836	182812483	66438138	13	18830											
LAD1	3898	genome.wustl.edu	37	1	201351400	201351400	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:201351400C>T	ENST00000391967.2	-	9	1829	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	LAD1_ENST00000488842.1_5'Flank|LAD1_ENST00000367313.3_Missense_Mutation_p.D524N	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	510						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						AGCGAGGAGTCAGATTTCTGT	0.602																																																0			1											200	160	174					1																	201351400		2203	4300	6503	199618023	SO:0001583	missense	3898			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1528G>A	1.37:g.201351400C>T	ENSP00000375829:p.Asp510Asn		199618023	O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996561	0.35226	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.46063	0.88;2.71;2.69	4.12	0.0569	0.14321	.	1.843090	0.02822	N	0.125693	T	0.34803	0.0910	L	0.44542	1.39	0.09310	N	1	P	0.36535	0.557	B	0.36845	0.234	T	0.24297	-1.0164	10	0.54805	T	0.06	-5.6779	2.8282	0.05491	0.2019:0.4643:0.0:0.3338	.	510	O00515	LAD1_HUMAN	N	161;510;524	ENSP00000422687:D161N;ENSP00000375829:D510N;ENSP00000356282:D524N	ENSP00000356282:D524N	D	-	1	0	LAD1	199618023	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.016000	0.13377	0.136000	0.18733	-0.258000	0.10820	GAC		0.602	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		T	201351400	C	T	201351400	3	4	348	1	0	0	0	0	1	0	0	0	8599	826	29	2	33	2	LAD1	1	201351400	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	18538917	201351400	47899221	14	18831											
RCOR3	55758	genome.wustl.edu	37	1	211486186	211486186	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:211486186G>A	ENST00000367005.4	+	10	1167	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	RCOR3_ENST00000452621.2_Silent_p.Q400Q|RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000419091.2_Silent_p.Q400Q|RCOR3_ENST00000367006.4_Intron	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AGGTATTGCAGGAGTGGGAAG	0.448																																																0			1											123	122	122					1																	211486186		2203	4300	6503	209552809	SO:0001819	synonymous_variant	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.1026G>A	1.37:g.211486186G>A			209552809	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	ENST00000367005.4	37	CCDS31016.1																																																																																				0.448	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		A	211486186	G	A	211486186	2	1	348	1	0	0	0	0	0	0	0	1	13187	991	35	2		2	RCOR3	1	211486186	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	10134786	211486186	37764435	15	18832											
WDR26	80232	genome.wustl.edu	37	1	224607296	224607296	+	Silent	SNP	T	T	G	rs142827296	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:224607296T>G	ENST00000414423.2	-	5	979	c.786A>C	c.(784-786)gcA>gcC	p.A262A	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Silent_p.A115A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	262						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTAGGTCTTCTGCATGGCTAC	0.353																																																0			1											126	112	117					1																	224607296		2203	4300	6503	222673919	SO:0001819	synonymous_variant	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.786A>C	1.37:g.224607296T>G			222673919	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	ENST00000414423.2	37	CCDS31037.2																																																																																				0.353	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		G	224607296	T	G	224607296	2	3	348	1	0	0	0	0	0	0	0	1	17283	1567	55	5		5	WDR26	1	224607296	Silent	SNP	T	TCGA-29-1775-01A-01W-0639-09	13121110	224607296	24643325	16	18833											
TTC13	79573	genome.wustl.edu	37	1	231093991	231093991	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:231093991C>T	ENST00000366661.4	-	3	428	c.421G>A	c.(421-423)Gac>Aac	p.D141N	TTC13_ENST00000414259.1_Missense_Mutation_p.D141N|TTC13_ENST00000366662.4_Missense_Mutation_p.D141N	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	141										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTTGTGCTGTCATTATCAGTG	0.378																																																0			1											130	121	124					1																	231093991		2203	4300	6503	229160614	SO:0001583	missense	79573				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.421G>A	1.37:g.231093991C>T	ENSP00000355621:p.Asp141Asn		229160614	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.10|18.10	3.548623|3.548623	0.65311|0.65311	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259|ENST00000522821	T;T;T|.	0.54071|.	0.87;0.61;0.59|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.270197|.	0.43416|.	D|.	0.000562|.	T|T	0.56262|0.56262	0.1973|0.1973	N|N	0.24115|0.24115	0.695|0.695	0.46901|0.46901	D|D	0.999248|0.999248	P;P;B|.	0.38504|.	0.501;0.634;0.363|.	B;B;B|.	0.34242|.	0.086;0.178;0.086|.	T|T	0.48445|0.48445	-0.9035|-0.9035	10|5	0.16896|.	T|.	0.51|.	3.0903|3.0903	19.1646|19.1646	0.93551|0.93551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	141;141;141|.	E9PGV4;Q8NBP0-2;Q8NBP0|.	.;.;TTC13_HUMAN|.	N|I	141|129	ENSP00000355621:D141N;ENSP00000355622:D141N;ENSP00000416631:D141N|.	ENSP00000355621:D141N|.	D|M	-|-	1|3	0|0	TTC13|TTC13	229160614|229160614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.423000|3.423000	0.52756|0.52756	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.378	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		T	231093991	C	T	231093991	3	4	348	1	0	0	0	0	1	0	0	0	16680	826	29	2	2245	2	TTC13	1	231093991	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	6486695	231093991	18156630	17	18834											
EGLN1	54583	genome.wustl.edu	37	1	231556889	231556889	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:231556889T>A	ENST00000366641.3	-	1	3901	c.746A>T	c.(745-747)aAg>aTg	p.K249M	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				TCGGATGTCCTTGGACGAGTC	0.622																																																0			1											83	75	77					1																	231556889		2203	4300	6503	229623512	SO:0001583	missense	54583			AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"Zinc fingers, MYND-type"	1232	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 2"	606425	"EGL nine (C.elegans) homolog 1", "egl nine homolog 1 (C. elegans)"	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.746A>T	1.37:g.231556889T>A	ENSP00000355601:p.Lys249Met		229623512		Missense_Mutation	SNP	ENST00000366641.3	37	CCDS1595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.668469|4.668469	0.88348|0.88348	.|.	.|.	ENSG00000135766|ENSG00000135766	ENST00000366641|ENST00000546322	T|.	0.23552|.	1.9|.	4.94|4.94	3.81|3.81	0.43845|0.43845	Prolyl 4-hydroxylase, alpha subunit (1);|.	0.055446|.	0.64402|.	D|.	0.000002|.	T|T	0.62514|0.62514	0.2434|0.2434	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999996|0.999996	P|.	0.37985|.	0.613|.	P|.	0.50490|.	0.642|.	T|T	0.63075|0.63075	-0.6718|-0.6718	10|6	0.87932|0.87932	D|D	0|0	-7.7508|-7.7508	7.4194|7.4194	0.27063|0.27063	0.0:0.2406:0.0:0.7594|0.0:0.2406:0.0:0.7594	.|.	249|.	Q9GZT9|.	EGLN1_HUMAN|.	M|W	249|48	ENSP00000355601:K249M|.	ENSP00000355601:K249M|ENSP00000439757:R48W	K|R	-|-	2|1	0|2	EGLN1|EGLN1	229623512|229623512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.089000|3.089000	0.50183|0.50183	0.818000|0.818000	0.34468|0.34468	0.460000|0.460000	0.39030|0.39030	AAG|AGG		0.622	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		A	231556889	T	A	231556889	3	1	348	1	0	0	0	0	1	0	0	0	4968	1609	56	5	554	5	EGLN1	1	231556889	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	462898	231556889	17693732	18	18835											
CHML	1122	genome.wustl.edu	37	1	241797449	241797459	+	Frame_Shift_Del	DEL	CTCGTTTATTT	CTCGTTTATTT	-	rs576100300|rs556621444		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	CTCGTTTATTT	CTCGTTTATTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:241797449_241797459delCTCGTTTATTT	ENST00000366553.1	-	1	1773_1783	c.1610_1620delAAATAAACGAG	c.(1609-1620)gaaataaacgagfs	p.EINE537fs	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	537					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TAAGTTCTTCCTCGTTTATTTCTGTTTCAGT	0.389																																																0			1																																								239864082	SO:0001589	frameshift_variant	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1610_1620delAAATAAACGAG	1.37:g.241797449_241797459delCTCGTTTATTT	ENSP00000355511:p.Glu537fs		239864072	B2RAB9|Q17RE0|Q9H1Y4	Frame_Shift_Del	DEL	ENST00000366553.1	37	CCDS31073.1																																																																																				0.389	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		-	241797459	CTCGTTTATTT	-	241797449	7	5	348	1	0	1	0	1	0	0	0	0	3351	680	24	0	354	0	CHML	1	241797449	Frame_Shift_Del	DEL	CTCGTTTATTT	TCGA-29-1775-01A-01W-0639-09	10240560	241797449	7453172	19	18836											
AHCTF1	25909	genome.wustl.edu	37	1	247006065	247006065	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr1:247006065T>G	ENST00000391829.2	-	35	6662	c.6539A>C	c.(6538-6540)cAa>cCa	p.Q2180P	AHCTF1_ENST00000470300.1_Intron|AHCTF1_ENST00000326225.3_Missense_Mutation_p.Q2189P|AHCTF1_ENST00000366508.1_Missense_Mutation_p.Q2215P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2180	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTACTGATTGTGCATCATC	0.348																																					Colon(145;197 1800 4745 15099 26333)											0			1											220	201	207					1																	247006065		2203	4300	6503	245072688	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6539A>C	1.37:g.247006065T>G	ENSP00000375705:p.Gln2180Pro		245072688	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	T	3.006	-0.205033	0.06180	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.31247	1.5;1.5;1.5	4.92	2.51	0.30379	.	0.387259	0.24508	N	0.037919	T	0.17619	0.0423	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.17440	-1.0369	10	0.33141	T	0.24	-4.3533	6.7279	0.23367	0.1519:0.0:0.1592:0.6888	.	2215;2180	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	P	2215;2189;2180	ENSP00000355464:Q2215P;ENSP00000355465:Q2189P;ENSP00000375705:Q2180P	ENSP00000355465:Q2189P	Q	-	2	0	AHCTF1	245072688	0.272000	0.24172	0.021000	0.16686	0.033000	0.12548	1.246000	0.32803	0.280000	0.22209	0.482000	0.46254	CAA		0.348	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		G	247006065	T	G	247006065	3	3	348	1	0	0	0	0	1	0	0	0	408	1812	63	5	269	5	AHCTF1	1	247006065	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	5208616	247006065	2244556	20	18837											
MSH2	4436	genome.wustl.edu	37	2	47710033	47710033	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:47710033C>T	ENST00000233146.2	+	16	2973	c.2750C>T	c.(2749-2751)gCa>gTa	p.A917V	MSH2_ENST00000461394.1_Intron|MSH2_ENST00000406134.1_Intron|MSH2_ENST00000543555.1_Missense_Mutation_p.A851V	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	917					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAGTAATAGCAAAGAATAAT	0.318			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	2											43	42	42					2																	47710033		2202	4290	6492	47563537	SO:0001583	missense	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2750C>T	2.37:g.47710033C>T	ENSP00000233146:p.Ala917Val		47563537	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655580	0.47467	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000413880	D;D	0.91792	-2.91;-2.77	5.4	3.61	0.41365	.	0.317239	0.37955	N	0.001865	D	0.89259	0.6664	L	0.50333	1.59	0.45747	D	0.998643	B;B	0.33964	0.434;0.306	B;B	0.36289	0.108;0.221	D	0.86288	0.1672	10	0.51188	T	0.08	-16.8406	11.8513	0.52413	0.0:0.8578:0.0:0.1422	.	851;917	B4E2Z2;P43246	.;MSH2_HUMAN	V	917;851;703	ENSP00000233146:A917V;ENSP00000442697:A851V	ENSP00000233146:A917V	A	+	2	0	MSH2	47563537	1.000000	0.71417	0.989000	0.46669	0.774000	0.43823	5.020000	0.64066	0.666000	0.31087	0.460000	0.39030	GCA		0.318	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			T	47710033	C	T	47710033	3	4	348	1	0	0	0	0	1	0	0	0	9870	710	25	2	2812	2	MSH2	2	47710033	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09		47710033	195489340	21	18838											
HK2	3099	genome.wustl.edu	37	2	75116541	75116541	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:75116541C>T	ENST00000290573.2	+	17	3145	c.2545C>T	c.(2545-2547)Cgt>Tgt	p.R849C	HK2_ENST00000409174.1_Missense_Mutation_p.R821C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	849	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ACGAGAAAACCGTGGGCTGGA	0.612																																																0			2											97	88	91					2																	75116541		2203	4300	6503	74970049	SO:0001583	missense	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2545C>T	2.37:g.75116541C>T	ENSP00000290573:p.Arg849Cys		74970049	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821695	0.71028	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97041	-4.22;-4.22	4.97	4.97	0.65823	Hexokinase, C-terminal (1);	0.112567	0.64402	N	0.000009	D	0.98507	0.9502	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99143	1.0856	10	0.66056	D	0.02	-4.6187	15.7654	0.78123	0.0:1.0:0.0:0.0	.	849	P52789	HXK2_HUMAN	C	849;849;821	ENSP00000290573:R849C;ENSP00000387140:R821C	ENSP00000290573:R849C	R	+	1	0	HK2	74970049	1.000000	0.71417	0.994000	0.49952	0.613000	0.37349	2.397000	0.44477	2.596000	0.87737	0.561000	0.74099	CGT		0.612	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		T	75116541	C	T	75116541	3	4	348	1	0	0	0	0	1	0	0	0	7191	652	23	1	2611	1	HK2	2	75116541	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	27406508	75116541	168082832	22	18839											
DNAH6	1768	genome.wustl.edu	37	2	84780045	84780045	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:84780045A>T	ENST00000237449.6	+	9	1497	c.1489A>T	c.(1489-1491)Acc>Tcc	p.T497S	DNAH6_ENST00000389394.3_Missense_Mutation_p.T497S|DNAH6_ENST00000398278.2_Missense_Mutation_p.T497S			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	497	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTCAGGGGACCCTTATGGT	0.358																																																0			2											125	122	123					2																	84780045		2203	4300	6503	84633556	SO:0001583	missense	284944			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1489A>T	2.37:g.84780045A>T	ENSP00000237449:p.Thr497Ser		84633556	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	5.021	0.189621	0.09547	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24723	1.84;1.97;1.84	5.41	-3.24	0.05094	.	1.044680	0.07555	N	0.916019	T	0.12305	0.0299	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38908	-0.9639	10	0.12766	T	0.61	.	8.8284	0.35069	0.1311:0.6103:0.1687:0.0899	.	497;76	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	S	497	ENSP00000374045:T497S;ENSP00000381326:T497S;ENSP00000237449:T497S	ENSP00000237449:T497S	T	+	1	0	DNAH6	84633556	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.720000	0.04969	-0.450000	0.07107	-1.301000	0.01330	ACC		0.358	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		T	84780045	A	T	84780045	3	4	348	1	0	0	0	0	1	0	0	0	4605	275	10	5	1523	5	DNAH6	2	84780045	Missense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	9663504	84780045	158419328	23	18840											
NEB	4703	genome.wustl.edu	37	2	152553150	152553150	+	Splice_Site	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:152553150C>T	ENST00000172853.10	-	17	1717		c.e17+1		NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGGAACTTACGTCACTCAGT	0.383																																																0			2											200	191	194					2																	152553150		1895	4106	6001	152261396	SO:0001630	splice_region_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1569+1G>A	2.37:g.152553150C>T			152261396	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	.	25.8	4.675602	0.88445	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.128	0.89592	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152261396	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.726000	0.74758	2.811000	0.96726	0.557000	0.71058	.		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Intron	T	152553150	C	T	152553150	5	4	348	1	0	0	0	0	0	0	1	0	10302	550	19	1	24780	1	NEB	2	152553150	Splice_Site	SNP	C	TCGA-29-1775-01A-01W-0639-09	67773105	152553150	90646223	24	18841											
XIRP2	129446	genome.wustl.edu	37	2	168105327	168105327	+	Silent	SNP	G	G	C	rs575664263		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:168105327G>C	ENST00000409195.1	+	9	7514	c.7425G>C	c.(7423-7425)acG>acC	p.T2475T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T2475T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T2253T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2300					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGAACACACGGAGACAAAGC	0.398																																																0			2											80	78	78					2																	168105327		1922	4136	6058	167813573	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7425G>C	2.37:g.168105327G>C			167813573	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		C	168105327	G	C	168105327	2	2	348	1	0	0	0	0	0	0	0	1	17430	1103	39	3		3	XIRP2	2	168105327	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	15552177	168105327	75094046	25	18842											
TTN	7273	genome.wustl.edu	37	2	179439161	179439161	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:179439161G>A	ENST00000591111.1	-	276	66999	c.66775C>T	c.(66775-66777)Cgg>Tgg	p.R22259W	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15027W|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14960W|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14835W|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21332W|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R23900W			Q8WZ42	TITIN_HUMAN	titin	22259	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAATCACCCGGAACTCATAA	0.453																																																0			2											221	219	219					2																	179439161		1921	4127	6048	179147407	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66775C>T	2.37:g.179439161G>A	ENSP00000465570:p.Arg22259Trp		179147407	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.35	1.613447	0.28712	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.53	5.53	0.82687	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85864	0.5796	H	0.98833	4.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91256	0.5033	9	0.87932	D	0	.	15.816	0.78599	0.0:0.0:0.8636:0.1364	.	14835;14960;15027;22259	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	21332;14835;15027;14960;14833	ENSP00000343764:R21332W;ENSP00000434586:R14835W;ENSP00000340554:R15027W;ENSP00000352154:R14960W	ENSP00000340554:R15027W	R	-	1	2	TTN	179147407	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.625000	0.74248	2.613000	0.88420	0.455000	0.32223	CGG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179439161	G	A	179439161	3	1	348	1	0	0	0	0	1	0	0	0	16735	1115	39	1	36429	1	TTN	2	179439161	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	11333834	179439161	63760212	26	18843											
TTN	7273	genome.wustl.edu	37	2	179458950	179458950	+	Silent	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:179458950G>T	ENST00000591111.1	-	247	53471	c.53247C>A	c.(53245-53247)ctC>ctA	p.L17749L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.L10517L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.L10450L|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.L10325L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L16822L|TTN_ENST00000589042.1_Silent_p.L19390L			Q8WZ42	TITIN_HUMAN	titin	17749	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L16820L(1)|p.L10325L(1)|p.L10517L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGAAGTCGAGGTGAAGCG	0.403																																																3	Substitution - coding silent(3)	large_intestine(3)	2											61	58	59					2																	179458950		1886	4113	5999	179167196	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53247C>A	2.37:g.179458950G>T			179167196	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179458950	G	T	179458950	2	4	348	1	0	0	0	0	0	0	0	1	16735	1045	37	3		3	TTN	2	179458950	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	19789	179458950	63740423	27	18844											
MSTN	2660	genome.wustl.edu	37	2	190926978	190926978	+	Silent	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:190926978C>A	ENST00000260950.4	-	1	477	c.345G>T	c.(343-345)acG>acT	p.T115T	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	115					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGATTGTTTCCGTTGTAGCGT	0.433																																																0			2											136	124	128					2																	190926978		2203	4299	6502	190635223	SO:0001819	synonymous_variant	2660			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.345G>T	2.37:g.190926978C>A			190635223	A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	ENST00000260950.4	37	CCDS2303.1																																																																																				0.433	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		A	190926978	C	A	190926978	2	1	348	1	0	0	0	0	0	0	0	1	9893	639	23	3		3	MSTN	2	190926978	Silent	SNP	C	TCGA-29-1775-01A-01W-0639-09	11468028	190926978	52272395	28	18845											
C2orf47	79568	genome.wustl.edu	37	2	200820552	200820552	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:200820552T>A	ENST00000392290.1	+	1	227	c.31T>A	c.(31-33)Ttc>Atc	p.F11I	TYW5_ENST00000354611.4_5'Flank|C2orf47_ENST00000295079.2_Missense_Mutation_p.F11I|TYW5_ENST00000452512.2_5'Flank|C2orf69_ENST00000491721.1_3'UTR			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	11						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GCTACCCCAGTTCCTGCACTC	0.642																																																0			2											37	44	42					2																	200820552		2202	4300	6502	200528797	SO:0001583	missense	79568			BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.31T>A	2.37:g.200820552T>A	ENSP00000376111:p.Phe11Ile		200528797	Q658V9|Q9H671	Missense_Mutation	SNP	ENST00000392290.1	37	CCDS2329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.59|13.59	2.281667|2.281667	0.40394|0.40394	.|.	.|.	ENSG00000162972|ENSG00000162972	ENST00000295079;ENST00000392290|ENST00000435773	T;T|.	0.41065|.	1.01;1.01|.	5.55|5.55	2.96|2.96	0.34315|0.34315	.|.	1.085030|.	0.07054|.	N|.	0.832499|.	T|T	0.15609|0.15609	0.0376|0.0376	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.17038|.	0.02|.	B|.	0.15484|.	0.013|.	T|T	0.22452|0.22452	-1.0216|-1.0216	10|5	0.29301|.	T|.	0.29|.	2.1727|2.1727	3.7337|3.7337	0.08503|0.08503	0.0:0.2578:0.1868:0.5554|0.0:0.2578:0.1868:0.5554	.|.	11|.	Q8WWC4|.	CB047_HUMAN|.	I|R	11|3	ENSP00000295079:F11I;ENSP00000376111:F11I|.	ENSP00000295079:F11I|.	F|S	+|+	1|3	0|2	C2orf47|C2orf47	200528797|200528797	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.321000|0.321000	0.19558|0.19558	0.428000|0.428000	0.26173|0.26173	0.482000|0.482000	0.46254|0.46254	TTC|AGT		0.642	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		A	200820552	T	A	200820552	3	1	348	1	0	0	0	0	1	0	0	0	2169	1725	60	5	33	5	C2orf47	2	200820552	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	9893574	200820552	42378821	29	18846											
USP37	57695	genome.wustl.edu	37	2	219330749	219330749	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:219330749T>G	ENST00000258399.3	-	21	2862	c.2450A>C	c.(2449-2451)cAg>cCg	p.Q817P	USP37_ENST00000418019.1_Missense_Mutation_p.Q817P|USP37_ENST00000415516.1_Missense_Mutation_p.Q723P|USP37_ENST00000454775.1_Missense_Mutation_p.Q817P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	817	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGAAGGCTCTGAGCCAGTGC	0.403																																																0			2											160	154	156					2																	219330749		2203	4300	6503	219038993	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2450A>C	2.37:g.219330749T>G	ENSP00000258399:p.Gln817Pro		219038993	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557187	0.45590	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.51325	0.72;0.72;0.71;0.72	5.22	5.22	0.72569	Ubiquitin interacting motif (3);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.991;0.999	T	0.51545	-0.8692	10	0.27082	T	0.32	-8.0519	15.284	0.73814	0.0:0.0:0.0:1.0	.	723;817	Q86T82-2;Q86T82	.;UBP37_HUMAN	P	817;817;723;817	ENSP00000258399:Q817P;ENSP00000393662:Q817P;ENSP00000400902:Q723P;ENSP00000396585:Q817P	ENSP00000258399:Q817P	Q	-	2	0	USP37	219038993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.394000	0.79862	2.201000	0.70794	0.533000	0.62120	CAG		0.403	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		G	219330749	T	G	219330749	3	3	348	1	0	0	0	0	1	0	0	0	17068	1580	55	5	513	5	USP37	2	219330749	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	18510197	219330749	23868624	30	18847											
PTPRN	5798	genome.wustl.edu	37	2	220164466	220164466	+	Silent	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:220164466C>A	ENST00000295718.2	-	10	1719	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	PTPRN_ENST00000423636.2_Silent_p.L403L|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Intron	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	493					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CATGCTCAGCCAGGATCTCCA	0.567																																																0			2											71	66	67					2																	220164466		2203	4300	6503	219872710	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1479G>T	2.37:g.220164466C>A			219872710	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	CCDS2440.1																																																																																				0.567	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			A	220164466	C	A	220164466	2	1	348	1	0	0	0	0	0	0	0	1	12810	581	21	3		3	PTPRN	2	220164466	Silent	SNP	C	TCGA-29-1775-01A-01W-0639-09	833717	220164466	23034907	31	18848											
MRPL44	65080	genome.wustl.edu	37	2	224824488	224824488	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:224824488G>C	ENST00000258383.3	+	2	486	c.417G>C	c.(415-417)caG>caC	p.Q139H		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	139	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCCTTACACAGTTTCTTGAAG	0.413																																																0			2											76	80	79					2																	224824488		2203	4300	6503	224532732	SO:0001583	missense	65080			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.417G>C	2.37:g.224824488G>C	ENSP00000258383:p.Gln139His		224532732	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	G	9.950	1.219923	0.22373	.	.	ENSG00000135900	ENST00000258383	T	0.42513	0.97	5.7	-8.97	0.00758	Ribonuclease III (3);	0.276150	0.40818	N	0.001017	T	0.33411	0.0862	L	0.57536	1.79	0.20074	N	0.999934	B	0.24576	0.106	B	0.25140	0.058	T	0.04495	-1.0947	10	0.62326	D	0.03	-1.4104	15.2137	0.73247	0.6696:0.0:0.3304:0.0	.	139	Q9H9J2	RM44_HUMAN	H	139	ENSP00000258383:Q139H	ENSP00000258383:Q139H	Q	+	3	2	MRPL44	224532732	0.005000	0.15991	0.040000	0.18447	0.071000	0.16799	-0.497000	0.06428	-2.339000	0.00626	-1.154000	0.01816	CAG		0.413	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		C	224824488	G	C	224824488	3	2	348	1	0	0	0	0	1	0	0	0	9808	1020	36	3	423	3	MRPL44	2	224824488	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	4660022	224824488	18374885	32	18849											
COL6A3	1293	genome.wustl.edu	37	2	238305437	238305437	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:238305437G>A	ENST00000295550.4	-	2	476	c.24C>T	c.(22-24)ccC>ccT	p.P8P	COL6A3_ENST00000346358.4_Silent_p.P8P|COL6A3_ENST00000472056.1_Silent_p.P8P|COL6A3_ENST00000347401.3_Silent_p.P8P|COL6A3_ENST00000409809.1_Silent_p.P8P|COL6A3_ENST00000353578.4_Silent_p.P8P|COL6A3_ENST00000392004.3_Silent_p.P8P|COL6A3_ENST00000392003.2_Silent_p.P8P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	8					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCCACTAAGGGCAAGTGCC	0.433																																																0			2											111	112	112					2																	238305437		2203	4300	6503	237970176	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.24C>T	2.37:g.238305437G>A			237970176	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.433	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238305437	G	A	238305437	2	1	348	1	0	0	0	0	0	0	0	1	3701	987	35	2		2	COL6A3	2	238305437	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	13480949	238305437	4893936	33	18850											
ANO7	50636	genome.wustl.edu	37	2	242135122	242135122	+	Silent	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr2:242135122C>T	ENST00000274979.8	+	4	436	c.333C>T	c.(331-333)gaC>gaT	p.D111D	ANO7_ENST00000402530.3_Splice_Site_p.D110D|ANO7_ENST00000402430.3_Splice_Site_p.D110D	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	111					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCCCAGCAGACTTCGTCCTCG	0.642																																																0			2											50	44	46					2																	242135122		2203	4300	6503	241783795	SO:0001819	synonymous_variant	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.333C>T	2.37:g.242135122C>T			241783795	Q6IWH6	Silent	SNP	ENST00000274979.8	37	CCDS33423.1																																																																																				0.642	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		T	242135122	C	T	242135122	2	4	348	1	0	0	0	0	0	0	0	1	702	579	20	2		2	ANO7	2	242135122	Silent	SNP	C	TCGA-29-1775-01A-01W-0639-09	3829685	242135122	1064251	34	18851											
C3orf32	51066	genome.wustl.edu	37	3	8669455	8669455	+	Silent	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:8669455G>C	ENST00000317371.4	-	15	1762	c.537C>G	c.(535-537)tcC>tcG	p.S179S	SSUH2_ENST00000415132.1_Silent_p.S179S|SSUH2_ENST00000341795.3_Silent_p.S179S|SSUH2_ENST00000544814.1_Silent_p.S201S			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	179	Cys-rich.					cytoplasm (GO:0005737)											CTCCGCAGCAGGATGGGCACC	0.672																																																0			3											54	50	51					3																	8669455		2203	4300	6503	8644455	SO:0001819	synonymous_variant	51066			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.537C>G	3.37:g.8669455G>C			8644455	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Silent	SNP	ENST00000317371.4	37	CCDS2568.1																																																																																				0.672	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		C	8669455	G	C	8669455	2	2	348	1	0	0	0	0	0	0	0	1	2222	987	35	3		3	C3orf32	3	8669455	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09		8669455	189352975	35	18852											
RBMS3	27303	genome.wustl.edu	37	3	29476392	29476392	+	Silent	SNP	C	C	A	rs369133683		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:29476392C>A	ENST00000383767.2	+	2	570	c.234C>A	c.(232-234)atC>atA	p.I78I	RBMS3_ENST00000383766.2_Silent_p.I77I|RBMS3_ENST00000445033.1_Silent_p.I78I|RBMS3_ENST00000452462.1_Silent_p.I78I|RBMS3_ENST00000273139.9_Silent_p.I78I|RBMS3_ENST00000456853.1_Silent_p.I78I|RBMS3_ENST00000396583.3_Silent_p.I78I|RBMS3_ENST00000434693.2_Silent_p.I77I			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	78	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				AGGACCTAATCAAGCTGTGCC	0.522																																																0			3											222	170	187					3																	29476392		2203	4300	6503	29451396	SO:0001819	synonymous_variant	27303			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.234C>A	3.37:g.29476392C>A			29451396	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	CCDS33724.1																																																																																				0.522	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		A	29476392	C	A	29476392	2	1	348	1	0	0	0	0	0	0	0	1	13153	816	29	3		3	RBMS3	3	29476392	Silent	SNP	C	TCGA-29-1775-01A-01W-0639-09	20806937	29476392	168546038	36	18853											
SCN11A	11280	genome.wustl.edu	37	3	38950673	38950673	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:38950673T>G	ENST00000302328.3	-	9	1312	c.1114A>C	c.(1114-1116)Act>Cct	p.T372P	SCN11A_ENST00000450244.1_Missense_Mutation_p.T372P|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000444237.2_Missense_Mutation_p.T372P|SCN11A_ENST00000456224.3_Missense_Mutation_p.T372P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	372					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAGAGCCCAGTAGTACGCAGG	0.458																																																0			3											124	121	122					3																	38950673		2203	4300	6503	38925677	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1114A>C	3.37:g.38950673T>G	ENSP00000307599:p.Thr372Pro		38925677	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.605313	0.46423	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.2	-9.9	0.00461	Ion transport (1);	0.543707	0.20504	N	0.091030	D	0.92270	0.7548	L	0.47190	1.495	0.09310	N	0.999997	B	0.21381	0.055	B	0.29440	0.102	T	0.79349	-0.1840	10	0.59425	D	0.04	.	7.5788	0.27952	0.5341:0.1899:0.0:0.276	.	372	Q9UI33	SCNBA_HUMAN	P	372	ENSP00000307599:T372P;ENSP00000400945:T372P;ENSP00000416757:T372P;ENSP00000408028:T372P	ENSP00000307599:T372P	T	-	1	0	SCN11A	38925677	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-1.545000	0.02190	-1.636000	0.01533	-1.522000	0.00932	ACT		0.458	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		G	38950673	T	G	38950673	3	3	348	1	0	0	0	0	1	0	0	0	13916	1638	57	5	4333	5	SCN11A	3	38950673	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	9474281	38950673	159071757	37	18854											
DOCK3	1795	genome.wustl.edu	37	3	51399411	51399411	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:51399411C>A	ENST00000266037.9	+	48	5151	c.5128C>A	c.(5128-5130)Ctg>Atg	p.L1710M		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1710					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCTGAGGACCTGTACCACCA	0.562																																																0			3											75	78	77					3																	51399411		2142	4248	6390	51374451	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5128C>A	3.37:g.51399411C>A	ENSP00000266037:p.Leu1710Met		51374451	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556615	0.27827	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05319	3.46	5.31	2.0	0.26442	.	0.130694	0.50627	D	0.000116	T	0.03305	0.0096	N	0.08118	0	0.31793	N	0.629436	B	0.06786	0.001	B	0.04013	0.001	T	0.13737	-1.0498	10	0.46703	T	0.11	.	8.4241	0.32718	0.3739:0.5444:0.0:0.0817	.	1710	Q8IZD9	DOCK3_HUMAN	M	1710;506	ENSP00000266037:L1710M	ENSP00000266037:L1710M	L	+	1	2	DOCK3	51374451	0.843000	0.29541	1.000000	0.80357	0.914000	0.54420	1.230000	0.32612	0.705000	0.31890	-0.150000	0.13652	CTG		0.562	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51399411	C	A	51399411	3	1	348	1	0	0	0	0	1	0	0	0	4688	680	24	3	5318	3	DOCK3	3	51399411	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	12448738	51399411	146623019	38	18855											
PRICKLE2	166336	genome.wustl.edu	37	3	64085106	64085106	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:64085106G>C	ENST00000295902.6	-	8	2741	c.2156C>G	c.(2155-2157)gCc>gGc	p.A719G	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A775G	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	719	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCCTCCCTGGCTCTCAGAGG	0.637																																																0			3											47	50	49					3																	64085106		2203	4300	6503	64060146	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2156C>G	3.37:g.64085106G>C	ENSP00000295902:p.Ala719Gly		64060146	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369994	0.42003	.	.	ENSG00000163637	ENST00000295902	D	0.85088	-1.94	5.33	5.33	0.75918	.	0.076821	0.53938	D	0.000042	T	0.81069	0.4746	L	0.40543	1.245	0.47153	D	0.99933	B	0.31125	0.309	B	0.26770	0.073	T	0.79403	-0.1818	10	0.49607	T	0.09	-31.676	19.3767	0.94512	0.0:0.0:1.0:0.0	.	719	Q7Z3G6	PRIC2_HUMAN	G	719	ENSP00000295902:A719G	ENSP00000295902:A719G	A	-	2	0	PRICKLE2	64060146	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.882000	0.63121	2.651000	0.90000	0.591000	0.81541	GCC		0.637	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		C	64085106	G	C	64085106	3	2	348	1	0	0	0	0	1	0	0	0	12490	1203	42	3	382	3	PRICKLE2	3	64085106	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	12685695	64085106	133937324	39	18856											
MITF	4286	genome.wustl.edu	37	3	70014172	70014180	+	In_Frame_Del	DEL	GATGGCACC	GATGGCACC	-	rs147954797		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	GATGGCACC	GATGGCACC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:70014172_70014180delGATGGCACC	ENST00000448226.2	+	10	1481_1489	c.1354_1362delGATGGCACC	c.(1354-1362)gatggcaccdel	p.DGT452del	MITF_ENST00000394351.3_In_Frame_Del_p.DGT345del|MITF_ENST00000314557.6_In_Frame_Del_p.DGT339del|MITF_ENST00000352241.4_In_Frame_Del_p.DGT446del|MITF_ENST00000314589.5_In_Frame_Del_p.DGT430del|MITF_ENST00000394355.2_In_Frame_Del_p.DGT421del|MITF_ENST00000328528.6_In_Frame_Del_p.DGT445del|MITF_ENST00000472437.1_In_Frame_Del_p.DGT394del|MITF_ENST00000531774.1_In_Frame_Del_p.DGT283del			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	452					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CGATCTCACGGATGGCACCATCACCTTCA	0.502			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0			3																																								70096870	SO:0001651	inframe_deletion	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1354_1362delGATGGCACC	3.37:g.70014172_70014180delGATGGCACC	ENSP00000391803:p.Asp452_Thr454del		70096862	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	In_Frame_Del	DEL	ENST00000448226.2	37																																																																																					0.502	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		-	70014180	GATGGCACC	-	70014172	7	5	348	1	0	1	0	1	0	0	0	0	9596	1174	41	0	1613	0	MITF	3	70014172	In_Frame_Del	DEL	GATGGCACC	TCGA-29-1775-01A-01W-0639-09	5929066	70014172	128008258	40	18857											
DTX3L	151636	genome.wustl.edu	37	3	122283302	122283302	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:122283302C>T	ENST00000296161.4	+	1	218	c.29C>T	c.(28-30)cCg>cTg	p.P10L	PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Missense_Mutation_p.P10L|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000477522.2_5'UTR|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	10					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CCGCCGTCCCCGCTCCTCGTG	0.731																																																0			3											20	26	24					3																	122283302		2202	4299	6501	123765992	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.29C>T	3.37:g.122283302C>T	ENSP00000296161:p.Pro10Leu		123765992	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285267	0.80803	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.50813	1.32;0.73	4.7	3.78	0.43462	.	0.167587	0.28796	N	0.014101	T	0.65863	0.2732	M	0.77313	2.365	0.35498	D	0.799524	D;D	0.89917	0.989;1.0	P;D	0.91635	0.579;0.999	T	0.75286	-0.3371	10	0.87932	D	0	-24.3335	9.9112	0.41406	0.0:0.7744:0.2256:0.0	.	10;10	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	L	10	ENSP00000296161:P10L;ENSP00000373157:P10L	ENSP00000296161:P10L	P	+	2	0	DTX3L	123765992	0.950000	0.32346	1.000000	0.80357	0.860000	0.49131	0.976000	0.29462	2.400000	0.81607	0.655000	0.94253	CCG		0.731	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		T	122283302	C	T	122283302	3	4	348	1	0	0	0	0	1	0	0	0	4796	652	23	1	31	1	DTX3L	3	122283302	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	52269130	122283302	75739128	41	18858											
A4GNT	51146	genome.wustl.edu	37	3	137849941	137849941	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:137849941A>T	ENST00000236709.3	-	2	359	c.158T>A	c.(157-159)gTg>gAg	p.V53E		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	53					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CTCTAGAAACACAATGCCACG	0.532																																																0			3											87	88	87					3																	137849941		2203	4300	6503	139332631	SO:0001583	missense	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.158T>A	3.37:g.137849941A>T	ENSP00000236709:p.Val53Glu		139332631	Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.074747	0.76415	.	.	ENSG00000118017	ENST00000236709	T	0.79845	-1.31	5.42	5.42	0.78866	.	0.299988	0.23817	N	0.044270	T	0.81772	0.4893	L	0.60455	1.87	0.36832	D	0.88695	D	0.56035	0.974	P	0.47470	0.548	D	0.86518	0.1814	10	0.62326	D	0.03	-0.7187	15.4719	0.75446	1.0:0.0:0.0:0.0	.	53	Q9UNA3	A4GCT_HUMAN	E	53	ENSP00000236709:V53E	ENSP00000236709:V53E	V	-	2	0	A4GNT	139332631	0.998000	0.40836	1.000000	0.80357	0.890000	0.51754	6.414000	0.73318	2.044000	0.60594	0.459000	0.35465	GTG		0.532	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		T	137849941	A	T	137849941	3	4	348	1	0	0	0	0	1	0	0	0	7	159	6	5	872	5	A4GNT	3	137849941	Missense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	15566639	137849941	60172489	42	18859											
ECT2	1894	genome.wustl.edu	37	3	172502554	172502554	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr3:172502554C>G	ENST00000392692.3	+	17	1962	c.1786C>G	c.(1786-1788)Cca>Gca	p.P596A	ECT2_ENST00000417960.1_Missense_Mutation_p.P564A|ECT2_ENST00000441497.2_Missense_Mutation_p.P565A|ECT2_ENST00000540509.1_Missense_Mutation_p.P596A|ECT2_ENST00000232458.5_Missense_Mutation_p.P565A|ECT2_ENST00000427830.1_Missense_Mutation_p.P565A	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	596	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCTTATCCGACCAGTACAGAG	0.338																																																0			3											176	169	172					3																	172502554		2203	4300	6503	173985248	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1786C>G	3.37:g.172502554C>G	ENSP00000376457:p.Pro596Ala		173985248	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932234	0.92389	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.78	5.78	0.91487	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	H	0.95816	3.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92970	0.6397	10	0.87932	D	0	-14.4194	19.6059	0.95582	0.0:1.0:0.0:0.0	.	596;41;596;565;564	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	A	565;596;565;564;565;596	ENSP00000232458:P565A;ENSP00000376457:P596A;ENSP00000401910:P565A;ENSP00000415876:P564A;ENSP00000412259:P565A;ENSP00000443160:P596A	ENSP00000232458:P565A	P	+	1	0	ECT2	173985248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.067000	0.76741	2.738000	0.93877	0.591000	0.81541	CCA		0.338	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		G	172502554	C	G	172502554	3	3	348	1	0	0	0	0	1	0	0	0	4901	507	18	3	1751	3	ECT2	3	172502554	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	34652613	172502554	25519876	43	18860											
ZNF732	654254	genome.wustl.edu	37	4	265378	265378	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:265378C>G	ENST00000419098.1	-	4	1278	c.1268G>C	c.(1267-1269)tGt>tCt	p.C423S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						GGCTTTGCCACACTCTTCACA	0.413																																																0			4											61	54	56					4																	265378		692	1591	2283	255378	SO:0001583	missense	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1268G>C	4.37:g.265378C>G	ENSP00000415774:p.Cys423Ser		255378		Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571489	0.28003	.	.	ENSG00000186777	ENST00000419098	D	0.85861	-2.04	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.89952	0.6864	H	0.95224	3.64	0.31235	N	0.695887	P	0.43633	0.813	P	0.46758	0.526	D	0.87579	0.2483	9	0.72032	D	0.01	.	7.3306	0.26580	0.0:1.0:0.0:0.0	.	423	B4DXR9	ZN732_HUMAN	S	423	ENSP00000415774:C423S	ENSP00000415774:C423S	C	-	2	0	ZNF732	255378	1.000000	0.71417	0.455000	0.27031	0.439000	0.31926	5.292000	0.65673	0.399000	0.25367	0.400000	0.26472	TGT		0.413	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		G	265378	C	G	265378	3	3	348	1	0	0	0	0	1	0	0	0	18123	478	17	3	493	3	ZNF732	4	265378	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09		265378	190888898	44	18861											
HAUS3	79441	genome.wustl.edu	37	4	2240452	2240452	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:2240452G>T	ENST00000243706.4	-	3	1457	c.1228C>A	c.(1228-1230)Caa>Aaa	p.Q410K	HAUS3_ENST00000506763.1_Missense_Mutation_p.Q410K|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.Q410K	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	410					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTAAGTTCTTGAACCAAATTT	0.308																																																0			4											109	108	109					4																	2240452		2202	4299	6501	2210250	SO:0001583	missense	79441			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1228C>A	4.37:g.2240452G>T	ENSP00000243706:p.Gln410Lys		2210250	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860732	0.32884	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.40225	1.04;1.04	5.87	5.02	0.67125	.	0.390612	0.23732	U	0.045102	T	0.35278	0.0926	L	0.50333	1.59	0.30493	N	0.771205	B;B	0.27679	0.185;0.185	B;B	0.24006	0.05;0.031	T	0.31916	-0.9926	10	0.22706	T	0.39	-26.0904	11.3402	0.49529	0.0:0.1396:0.7193:0.1411	.	410;410	B4DF64;Q68CZ6	.;HAUS3_HUMAN	K	410	ENSP00000243706:Q410K;ENSP00000392903:Q410K	ENSP00000243706:Q410K	Q	-	1	0	HAUS3	2210250	1.000000	0.71417	0.981000	0.43875	0.466000	0.32739	3.059000	0.49947	1.437000	0.47472	0.591000	0.81541	CAA		0.308	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		T	2240452	G	T	2240452	3	4	348	1	0	0	0	0	1	0	0	0	6967	1299	45	3	595	3	HAUS3	4	2240452	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	1975074	2240452	188913824	45	18862											
PPAT	5471	genome.wustl.edu	37	4	57269537	57269537	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:57269537T>A	ENST00000264220.2	-	4	570	c.433A>T	c.(433-435)Agt>Tgt	p.S145C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	145	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	CTATCAGAACTTGTAGACAGA	0.473																																																0			4											72	69	70					4																	57269537		2203	4300	6503	56964294	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.433A>T	4.37:g.57269537T>A	ENSP00000264220:p.Ser145Cys		56964294		Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.459856	0.26248	.	.	ENSG00000128059	ENST00000264220	T	0.78003	-1.14	5.51	2.67	0.31697	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.247806	0.52532	D	0.000071	T	0.69415	0.3108	L	0.49571	1.57	0.41823	D	0.990035	B	0.09022	0.002	B	0.17979	0.02	T	0.66858	-0.5817	10	0.66056	D	0.02	-14.5494	7.8384	0.29384	0.13:0.0783:0.0:0.7916	.	145	Q06203	PUR1_HUMAN	C	145	ENSP00000264220:S145C	ENSP00000264220:S145C	S	-	1	0	PPAT	56964294	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	1.919000	0.40015	0.883000	0.36040	0.533000	0.62120	AGT		0.473	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		A	57269537	T	A	57269537	3	1	348	1	0	0	0	0	1	0	0	0	12302	1609	56	5	1152	5	PPAT	4	57269537	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	55029085	57269537	133884739	46	18863											
HERC3	8916	genome.wustl.edu	37	4	89625685	89625685	+	Silent	SNP	G	G	A	rs150630116	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:89625685G>A	ENST00000402738.1	+	25	3107	c.2868G>A	c.(2866-2868)tcG>tcA	p.S956S	HERC3_ENST00000543130.1_Silent_p.S400S|HERC3_ENST00000264345.3_Silent_p.S956S	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	956	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAGATTACTCGGCCACACATC	0.333																																																0			4						G		2,4404	4.2+/-10.8	0,2,2201	84	85	85		2868	3.1	1	4	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HERC3	NM_014606.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		956/1051	89625685	3,13003	2203	4300	6503	89844708	SO:0001819	synonymous_variant	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2868G>A	4.37:g.89625685G>A			89844708	A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	CCDS34028.1																																																																																				0.333	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		A	89625685	G	A	89625685	2	1	348	1	0	0	0	0	0	0	0	1	7059	1103	39	1		1	HERC3	4	89625685	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	32356148	89625685	101528591	47	18864											
GPRIN3	285513	genome.wustl.edu	37	4	90168980	90168980	+	Missense_Mutation	SNP	C	C	T	rs147735218	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:90168980C>T	ENST00000609438.1	-	2	2800	c.2282G>A	c.(2281-2283)cGa>cAa	p.R761Q	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R761Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	761										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GTTGGGGCGTCGGAAGTTCTG	0.473													C|||	3	0.000599042	0.0023	0	5008	,	,		17100	0		0	False		,,,				2504	0															0			4						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	111	115	114		2282	5.3	0.1	4	dbSNP_134	114	0,8600		0,0,4300	no	missense	GPRIN3	NM_198281.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	761/777	90168980	1,13005	2203	4300	6503	90388003	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2282G>A	4.37:g.90168980C>T	ENSP00000476603:p.Arg761Gln		90388003	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219918	0.95139	2.27E-4	0.0	ENSG00000185477	ENST00000333209	T	0.28069	1.63	5.26	5.26	0.73747	.	0.000000	0.30501	N	0.009488	T	0.49592	0.1566	L	0.39898	1.24	0.43421	D	0.995577	D	0.89917	1.0	D	0.97110	1.0	T	0.48779	-0.9005	10	0.87932	D	0	-12.8158	19.0719	0.93143	0.0:1.0:0.0:0.0	.	761	Q6ZVF9	GRIN3_HUMAN	Q	761	ENSP00000328672:R761Q	ENSP00000328672:R761Q	R	-	2	0	GPRIN3	90388003	1.000000	0.71417	0.085000	0.20634	0.976000	0.68499	7.289000	0.78701	2.734000	0.93682	0.655000	0.94253	CGA		0.473	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		T	90168980	C	T	90168980	3	4	348	1	0	0	0	0	1	0	0	0	6731	884	31	1	52	1	GPRIN3	4	90168980	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	543295	90168980	100985296	48	18865											
LRBA	987	genome.wustl.edu	37	4	151242515	151242515	+	Silent	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:151242515T>A	ENST00000357115.3	-	51	7734	c.7491A>T	c.(7489-7491)ccA>ccT	p.P2497P	LRBA_ENST00000510413.1_Silent_p.P2486P|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Silent_p.P2486P|LRBA_ENST00000507224.1_Silent_p.P2486P	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2497						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAACATCAATGGACTCTGCA	0.493																																																0			4											118	104	109					4																	151242515		2203	4300	6503	151461965	SO:0001819	synonymous_variant	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7491A>T	4.37:g.151242515T>A			151461965	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	6.628	0.484324	0.12641	.	.	ENSG00000198589	ENST00000509835	.	.	.	6.07	-2.13	0.07144	.	.	.	.	.	T	0.51261	0.1664	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42832	-0.9428	4	.	.	.	.	7.419	0.27061	0.0:0.3506:0.2062:0.4432	.	.	.	.	L	1139	.	.	H	-	2	0	LRBA	151461965	0.068000	0.21057	0.929000	0.37066	0.999000	0.98932	-0.614000	0.05604	-0.560000	0.06102	0.533000	0.62120	CAT		0.493	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			A	151242515	T	A	151242515	2	1	348	1	0	0	0	0	0	0	0	1	8931	1451	51	5		5	LRBA	4	151242515	Silent	SNP	T	TCGA-29-1775-01A-01W-0639-09	61073535	151242515	39911761	49	18866											
MAB21L2	10586	genome.wustl.edu	37	4	151505207	151505207	+	Silent	SNP	C	C	A	rs562705013		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:151505207C>A	ENST00000317605.4	+	1	2131	c.1026C>A	c.(1024-1026)acC>acA	p.T342T	RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	342					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCAAGCAGACCTGGAGGTTGG	0.592																																																0			4											42	46	44					4																	151505207		2203	4300	6503	151724657	SO:0001819	synonymous_variant	10586			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.1026C>A	4.37:g.151505207C>A			151724657	B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	CCDS3774.1																																																																																				0.592	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		A	151505207	C	A	151505207	2	1	348	1	0	0	0	0	0	0	0	1	9142	668	24	3		3	MAB21L2	4	151505207	Silent	SNP	C	TCGA-29-1775-01A-01W-0639-09	262692	151505207	39649069	50	18867											
GRIA2	2891	genome.wustl.edu	37	4	158224934	158224934	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr4:158224934A>C	ENST00000264426.9	+	3	739	c.460A>C	c.(460-462)Agt>Cgt	p.S154R	GRIA2_ENST00000449365.1_Missense_Mutation_p.S107R|GRIA2_ENST00000393815.2_Missense_Mutation_p.S107R|GRIA2_ENST00000296526.7_Missense_Mutation_p.S154R|GRIA2_ENST00000507898.1_Missense_Mutation_p.S107R	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	154					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCTCTATGACAGTGACAGAGG	0.418																																																0			4											147	131	136					4																	158224934		2203	4300	6503	158444384	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.460A>C	4.37:g.158224934A>C	ENSP00000264426:p.Ser154Arg		158444384	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838439	0.91117	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000505888;ENST00000449365;ENST00000503437	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.041675	0.85682	D	0.000000	T	0.48926	0.1527	M	0.62723	1.935	0.80722	D	1	P;P;D	0.89917	0.682;0.881;1.0	P;P;D	0.91635	0.578;0.592;0.999	T	0.40646	-0.9552	9	.	.	.	.	15.8173	0.78612	1.0:0.0:0.0:0.0	.	154;154;107	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	R	107;107;154;154;107;107;27	ENSP00000426845:S107R;ENSP00000377403:S107R;ENSP00000296526:S154R;ENSP00000264426:S154R;ENSP00000422038:S107R;ENSP00000389837:S107R;ENSP00000426784:S27R	.	S	+	1	0	GRIA2	158444384	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.478000	0.81082	2.210000	0.71456	0.528000	0.53228	AGT		0.418	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			C	158224934	A	C	158224934	3	2	348	1	0	0	0	0	1	0	0	0	6768	188	7	5	470	5	GRIA2	4	158224934	Missense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	6719727	158224934	32929342	51	18868											
SUB1	10923	genome.wustl.edu	37	5	32588629	32588629	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:32588629C>T	ENST00000265073.4	+	2	139	c.11C>T	c.(10-12)tCa>tTa	p.S4L	SUB1_ENST00000512913.1_Missense_Mutation_p.S4L|SUB1_ENST00000504789.1_Intron|SUB1_ENST00000515355.1_Missense_Mutation_p.S4L|SUB1_ENST00000502897.1_Missense_Mutation_p.S4L	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	4	Regulatory.|Ser-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|single-stranded DNA binding (GO:0003697)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATGCCTAAATCAAAGGAACTT	0.363																																																0			5											77	75	76					5																	32588629		2203	4300	6503	32624386	SO:0001583	missense	10923			X79805	CCDS3897.1	5p13.3	2008-02-05			ENSG00000113387	ENSG00000113387			19985	protein-coding gene	gene with protein product		600503				8062392, 8062391	Standard	NM_006713		Approved	PC4, p15, p14	uc003jhs.2	P53999	OTTHUMG00000131071	ENST00000265073.4:c.11C>T	5.37:g.32588629C>T	ENSP00000265073:p.Ser4Leu		32624386	Q96L29	Missense_Mutation	SNP	ENST00000265073.4	37	CCDS3897.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136182	0.77662	.	.	ENSG00000113387	ENST00000506237;ENST00000512913;ENST00000265073;ENST00000542111;ENST00000515355;ENST00000502897;ENST00000510442	T;T;T;T;T;T	0.56275	0.85;0.85;0.85;0.85;0.85;0.47	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	M	0.72479	2.2	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.71761	-0.4495	10	0.59425	D	0.04	.	19.5294	0.95222	0.0:1.0:0.0:0.0	.	4	P53999	TCP4_HUMAN	L	4	ENSP00000422078:S4L;ENSP00000422806:S4L;ENSP00000265073:S4L;ENSP00000426850:S4L;ENSP00000427100:S4L;ENSP00000423893:S4L	ENSP00000265073:S4L	S	+	2	0	SUB1	32624386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.379000	0.66196	2.712000	0.92718	0.650000	0.86243	TCA		0.363	SUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253730.1	NM_006713		T	32588629	C	T	32588629	3	4	348	1	0	0	0	0	1	0	0	0	15364	838	29	2	13	2	SUB1	5	32588629	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09		32588629	148326631	52	18869											
TTC23L	153657	genome.wustl.edu	37	5	34867029	34867029	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:34867029C>T	ENST00000505624.1	+	7	798	c.695C>T	c.(694-696)gCt>gTt	p.A232V	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	232										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						CTGAACCTAGCTCTGGCATAC	0.473																																																0			5											51	49	50					5																	34867029		1930	4148	6078	34902786	SO:0001583	missense	153657				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.695C>T	5.37:g.34867029C>T	ENSP00000422188:p.Ala232Val		34902786	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535710	0.64972	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	D	0.90620	-2.7	5.14	5.14	0.70334	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.93874	0.8040	M	0.72894	2.215	0.36698	D	0.879979	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.71656	0.974;0.942;0.935	D	0.95247	0.8356	10	0.87932	D	0	-17.8808	11.0112	0.47663	0.0:0.9143:0.0:0.0857	.	232;163;232	Q6PF05-2;B4DEX1;Q6PF05	.;.;TT23L_HUMAN	V	232	ENSP00000422188:A232V	ENSP00000425242:A232V	A	+	2	0	TTC23L	34902786	0.720000	0.27996	0.828000	0.32881	0.444000	0.32077	1.801000	0.38843	2.671000	0.90904	0.563000	0.77884	GCT		0.473	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		T	34867029	C	T	34867029	3	4	348	1	0	0	0	0	1	0	0	0	16691	797	28	2	717	2	TTC23L	5	34867029	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	2278400	34867029	146048231	53	18870											
NIPBL	25836	genome.wustl.edu	37	5	37000975	37000975	+	Nonsense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:37000975A>T	ENST00000282516.8	+	13	4058	c.3559A>T	c.(3559-3561)Aaa>Taa	p.K1187*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.K1187*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1187					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATATGAACCAAAACTAACACC	0.303																																																0			5											80	80	80					5																	37000975		2201	4297	6498	37036732	SO:0001587	stop_gained	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3559A>T	5.37:g.37000975A>T	ENSP00000282516:p.Lys1187*		37036732	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	46	12.247080	0.99650	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0099	0.80396	1.0:0.0:0.0:0.0	.	.	.	.	X	1187	.	ENSP00000282516:K1187X	K	+	1	0	NIPBL	37036732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.131000	0.77243	2.252000	0.74401	0.528000	0.53228	AAA		0.303	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		T	37000975	A	T	37000975	4	4	348	1	0	0	0	0	0	1	0	0	10428	15	1	5	3605	5	NIPBL	5	37000975	Nonsense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	2133946	37000975	143914285	54	18871											
MATR3	9782	genome.wustl.edu	37	5	138643164	138643164	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:138643164C>G	ENST00000394805.3	+	2	395	c.60C>G	c.(58-60)gaC>gaG	p.D20E	MATR3_ENST00000503811.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.D20E|MATR3_ENST00000510056.1_Missense_Mutation_p.D20E|MATR3_ENST00000509990.1_Missense_Mutation_p.D20E|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.D20E|MATR3_ENST00000502929.1_Missense_Mutation_p.D20E	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	20					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGGGCGTGACCTGTCTGCGG	0.468																																																0			5											110	108	108					5																	138643164		2203	4300	6503	138671063	SO:0001583	missense	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.60C>G	5.37:g.138643164C>G	ENSP00000378284:p.Asp20Glu		138671063	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666641	0.47677	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000514694;ENST00000502929;ENST00000394800;ENST00000505016;ENST00000502394;ENST00000394805;ENST00000504045;ENST00000510056;ENST00000337359;ENST00000508689;ENST00000514488;ENST00000503340;ENST00000504023	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.82	5.82	0.92795	.	0.435517	0.26116	N	0.026243	T	0.71508	0.3348	N	0.08118	0	0.33138	D	0.54399	B;P;B	0.44690	0.0;0.841;0.0	B;P;B	0.58820	0.001;0.846;0.001	T	0.66941	-0.5796	10	0.06236	T	0.91	-7.8352	15.4225	0.75025	0.0:0.8622:0.1378:0.0	.	20;20;20	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	E	20	ENSP00000423533:D20E;ENSP00000354346:D20E;ENSP00000422233:D20E;ENSP00000422319:D20E;ENSP00000378279:D20E;ENSP00000424431:D20E;ENSP00000427168:D20E;ENSP00000378284:D20E;ENSP00000423290:D20E;ENSP00000426743:D20E;ENSP00000422137:D20E;ENSP00000426801:D20E;ENSP00000422590:D20E;ENSP00000421145:D20E	ENSP00000338208:D20E	D	+	3	2	MATR3	138671063	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.571000	0.45990	2.765000	0.95021	0.591000	0.81541	GAC		0.468	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		G	138643164	C	G	138643164	3	3	348	1	0	0	0	0	1	0	0	0	9337	506	18	3	62	3	MATR3	5	138643164	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	101642189	138643164	42272096	55	18872											
PCDHA10	56139	genome.wustl.edu	37	5	140236060	140236060	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:140236060G>C	ENST00000307360.5	+	1	427	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E143Q|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	143	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAATACCTGAATCCAGACT	0.488																																																0			5											125	130	128					5																	140236060		2197	4270	6467	140216244	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.427G>C	5.37:g.140236060G>C	ENSP00000304234:p.Glu143Gln		140216244	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733746	0.69189	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.37584	1.19;1.19	4.34	4.34	0.51931	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.79650	0.4482	H	0.99924	4.96	0.28900	N	0.893309	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.927;0.998	T	0.81782	-0.0775	9	0.87932	D	0	.	16.4471	0.83937	0.0:0.0:1.0:0.0	.	143;143;143	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	Q	143	ENSP00000421030:E143Q;ENSP00000304234:E143Q	ENSP00000304234:E143Q	E	+	1	0	PCDHA10	140216244	1.000000	0.71417	0.895000	0.35142	0.962000	0.63368	6.432000	0.73400	2.434000	0.82447	0.556000	0.70494	GAA		0.488	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		C	140236060	G	C	140236060	3	2	348	1	0	0	0	0	1	0	0	0	11520	1291	45	3	429	3	PCDHA10	5	140236060	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	1592896	140236060	40679200	56	18873											
JAKMIP2	9832	genome.wustl.edu	37	5	147023647	147023647	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr5:147023647G>C	ENST00000265272.5	-	7	1665	c.1198C>G	c.(1198-1200)Cag>Gag	p.Q400E	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q358E|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q400E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	400						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATGTTCTGTTGCTCAATG	0.393																																																0			5											142	130	134					5																	147023647		2203	4300	6503	147003840	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1198C>G	5.37:g.147023647G>C	ENSP00000265272:p.Gln400Glu		147003840	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018734	0.93404	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.27104	1.7;1.69;1.69	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.75615	2.305	0.80722	D	1	P;P;P;P	0.43578	0.811;0.811;0.811;0.811	P;P;P;P	0.54924	0.764;0.764;0.764;0.764	T	0.25363	-1.0134	10	0.36615	T	0.2	.	19.7462	0.96252	0.0:0.0:1.0:0.0	.	358;400;400;400	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	E	400;400;358;400	ENSP00000421398:Q400E;ENSP00000265272:Q400E;ENSP00000328989:Q358E	ENSP00000265272:Q400E	Q	-	1	0	JAKMIP2	147003840	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	9.405000	0.97313	2.736000	0.93811	0.655000	0.94253	CAG		0.393	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		C	147023647	G	C	147023647	3	2	348	1	0	0	0	0	1	0	0	0	7941	1386	48	3	1294	3	JAKMIP2	5	147023647	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	6787587	147023647	33891613	57	18874											
TRIM31	11074	genome.wustl.edu	37	6	30071439	30071439	+	Silent	SNP	A	A	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:30071439A>G	ENST00000376734.3	-	9	1277	c.1152T>C	c.(1150-1152)tcT>tcC	p.S384S	TRIM31_ENST00000540829.1_Silent_p.S384S|TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	384					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CTCCTTGACCAGAAATCTCAT	0.552																																																0			6											109	115	113					6																	30071439		1510	2708	4218	30179418	SO:0001819	synonymous_variant	11074			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1152T>C	6.37:g.30071439A>G			30179418	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Silent	SNP	ENST00000376734.3	37	CCDS34374.1																																																																																				0.552	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			G	30071439	A	G	30071439	2	3	348	1	0	0	0	0	0	0	0	1	16505	175	7	4		4	TRIM31	6	30071439	Silent	SNP	A	TCGA-29-1775-01A-01W-0639-09		30071439	141043628	58	18875											
HLA-E	3133	genome.wustl.edu	37	6	30458953	30458953	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:30458953A>C	ENST00000376630.4	+	4	715	c.650A>C	c.(649-651)gAc>gCc	p.D217A		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	217	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CCCATCTCTGACCATGAGGCC	0.592																																																0			6											124	144	137					6																	30458953		1511	2709	4220	30566932	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.650A>C	6.37:g.30458953A>C	ENSP00000365817:p.Asp217Ala		30566932	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.309827	0.23821	.	.	ENSG00000204592	ENST00000376630	T	0.14516	2.5	1.67	1.67	0.24075	.	0.151769	0.29522	U	0.011918	T	0.05181	0.0138	M	0.75447	2.3	0.09310	N	1	P;P	0.40553	0.721;0.475	B;B	0.31812	0.136;0.082	T	0.20338	-1.0278	10	0.87932	D	0	.	5.384	0.16208	1.0:0.0:0.0:0.0	.	258;217	E7ENN9;Q6DU44	.;.	A	217	ENSP00000365817:D217A	ENSP00000365817:D217A	D	+	2	0	HLA-E	30566932	0.000000	0.05858	0.038000	0.18304	0.068000	0.16541	0.402000	0.20965	1.016000	0.39470	0.379000	0.24179	GAC		0.592	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		C	30458953	A	C	30458953	3	2	348	1	0	0	0	0	1	0	0	0	7210	275	10	5	664	5	HLA-E	6	30458953	Missense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	387514	30458953	140656114	59	18876											
ZNF76	7629	genome.wustl.edu	37	6	35255571	35255571	+	Silent	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:35255571T>C	ENST00000373953.3	+	5	647	c.381T>C	c.(379-381)gaT>gaC	p.D127D	ZNF76_ENST00000339411.5_Silent_p.D127D|ZNF76_ENST00000440666.2_Silent_p.D101D	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	127					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGAGGATGATGAGGGCTTCA	0.612																																					Esophageal Squamous(52;92 1039 20612 23956 34676)											0			6											101	90	94					6																	35255571		2203	4300	6503	35363549	SO:0001819	synonymous_variant	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.381T>C	6.37:g.35255571T>C			35363549	Q9BQB2	Silent	SNP	ENST00000373953.3	37	CCDS4801.1																																																																																				0.612	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		C	35255571	T	C	35255571	2	2	348	1	0	0	0	0	0	0	0	1	18135	1461	51	4		4	ZNF76	6	35255571	Silent	SNP	T	TCGA-29-1775-01A-01W-0639-09	4796618	35255571	135859496	60	18877											
LRFN2	57497	genome.wustl.edu	37	6	40400011	40400011	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:40400011T>A	ENST00000338305.6	-	2	1384	c.842A>T	c.(841-843)gAg>gTg	p.E281V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	281	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAACTCCTCCTCACGCACATG	0.617																																																0			6											45	47	46					6																	40400011		2203	4300	6503	40507989	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.842A>T	6.37:g.40400011T>A	ENSP00000345985:p.Glu281Val		40507989	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912332	0.72983	.	.	ENSG00000156564	ENST00000338305	T	0.02421	4.3	5.57	5.57	0.84162	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00998	-1.1486	10	0.72032	D	0.01	.	14.5482	0.68047	0.0:0.0:0.0:1.0	.	281	Q9ULH4	LRFN2_HUMAN	V	281	ENSP00000345985:E281V	ENSP00000345985:E281V	E	-	2	0	LRFN2	40507989	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	6.301000	0.72782	2.123000	0.65237	0.460000	0.39030	GAG		0.617	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		A	40400011	T	A	40400011	3	1	348	1	0	0	0	0	1	0	0	0	8938	1551	54	5	1535	5	LRFN2	6	40400011	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	5144440	40400011	130715056	61	18878											
TRAM2	9697	genome.wustl.edu	37	6	52372421	52372421	+	Splice_Site	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:52372421C>G	ENST00000182527.3	-	7	555	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	186	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GGAATTTCCTCCTGGAAACAA	0.498																																																0			6											66	69	68					6																	52372421		2203	4300	6503	52480380	SO:0001630	splice_region_variant	9697			D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.556-1G>C	6.37:g.52372421C>G			52480380	A8K6T6	Missense_Mutation	SNP	ENST00000182527.3	37	CCDS34477.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351117	0.82132	.	.	ENSG00000065308	ENST00000182527	D	0.85171	-1.95	5.31	5.31	0.75309	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.87639	0.2521	10	0.36615	T	0.2	.	19.1712	0.93578	0.0:1.0:0.0:0.0	.	186	Q15035	TRAM2_HUMAN	Q	186	ENSP00000182527:E186Q	ENSP00000182527:E186Q	E	-	1	0	TRAM2	52480380	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.265000	0.78442	2.768000	0.95171	0.491000	0.48974	GAG		0.498	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288	Missense_Mutation	G	52372421	C	G	52372421	5	3	348	1	0	0	0	0	0	0	1	0	16453	869	30	3	576	3	TRAM2	6	52372421	Splice_Site	SNP	C	TCGA-29-1775-01A-01W-0639-09	11972410	52372421	118742646	62	18879											
RIMS1	22999	genome.wustl.edu	37	6	72967885	72967885	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr6:72967885A>C	ENST00000521978.1	+	17	2828	c.2828A>C	c.(2827-2829)cAg>cCg	p.Q943P	RIMS1_ENST00000348717.5_Missense_Mutation_p.Q942P|RIMS1_ENST00000517960.1_Missense_Mutation_p.Q942P|RIMS1_ENST00000518273.1_Missense_Mutation_p.Q943P|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.Q942P|RIMS1_ENST00000517827.1_Missense_Mutation_p.Q402P|RIMS1_ENST00000401910.3_Missense_Mutation_p.Q416P|RIMS1_ENST00000522291.1_Missense_Mutation_p.Q942P|RIMS1_ENST00000523963.1_Missense_Mutation_p.Q417P|RIMS1_ENST00000425662.2_Missense_Mutation_p.Q336P|RIMS1_ENST00000264839.7_Missense_Mutation_p.Q943P|RIMS1_ENST00000491071.2_Missense_Mutation_p.Q943P	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	943					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTGCCAGAACAGCAAAGAACA	0.428																																																0			6											96	92	93					6																	72967885		1983	4158	6141	73024606	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2828A>C	6.37:g.72967885A>C	ENSP00000428417:p.Gln943Pro		73024606	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.085620|4.085620	0.76642|0.76642	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000522211	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.22336|.	2.26;2.52;2.35;2.52;2.41;2.45;2.48;2.3;2.46;2.41;2.47;2.41;2.45;1.96|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.096591|.	0.45126|.	D|.	0.000393|.	T|T	0.62732|0.62732	0.2452|0.2452	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D;D;D;D;P;P;D|.	0.71674|.	0.995;0.576;0.998;0.994;0.987;0.99;0.974;0.997;0.973;0.913;0.945;0.984|.	D;B;D;P;P;P;P;D;D;P;B;P|.	0.77557|.	0.943;0.059;0.99;0.759;0.905;0.898;0.696;0.916;0.921;0.582;0.424;0.642|.	T|T	0.63712|0.63712	-0.6575|-0.6575	10|5	0.72032|.	D|.	0.01|.	-16.5345|-16.5345	15.0624|15.0624	0.71964|0.71964	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	402;417;943;402;416;942;195;943;942;196;943;943|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	P|R	943;943;943;942;943;942;943;942;943;942;942;943;416;417;336;336;402;168|34	ENSP00000430101:Q943P;ENSP00000275037:Q942P;ENSP00000264839:Q943P;ENSP00000429959:Q942P;ENSP00000430408:Q943P;ENSP00000430502:Q942P;ENSP00000430932:Q942P;ENSP00000428417:Q943P;ENSP00000385649:Q416P;ENSP00000428328:Q417P;ENSP00000411235:Q336P;ENSP00000389503:Q336P;ENSP00000428367:Q402P;ENSP00000359448:Q168P|.	ENSP00000264839:Q943P|.	Q|S	+|+	2|1	0|0	RIMS1|RIMS1	73024606|73024606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.726000|0.726000	0.41606|0.41606	9.085000|9.085000	0.94083|0.94083	1.971000|1.971000	0.57363|0.57363	0.477000|0.477000	0.44152|0.44152	CAG|AGC		0.428	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			C	72967885	A	C	72967885	3	2	348	1	0	0	0	0	1	0	0	0	13370	188	7	5	3057	5	RIMS1	6	72967885	Missense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	20595464	72967885	98147182	63	18880											
ACTB	60	genome.wustl.edu	37	7	5568218	5568218	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:5568218A>G	ENST00000331789.5	-	4	687	c.496T>C	c.(496-498)Tac>Cac	p.Y166H	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	166					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TACCCCTCGTAGATGGGCACA	0.622																																																0			7											68	68	68					7																	5568218		2203	4300	6503	5534744	SO:0001583	missense	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.496T>C	7.37:g.5568218A>G	ENSP00000349960:p.Tyr166His		5534744	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271649	0.59649	.	.	ENSG00000075624	ENST00000331789;ENST00000400179;ENST00000320713	D	0.94457	-3.43	5.13	5.13	0.70059	.	0.119241	0.37012	U	0.002297	D	0.97536	0.9193	M	0.91354	3.2	0.49915	D	0.999839	D	0.54601	0.967	D	0.71184	0.972	D	0.98325	1.0530	10	0.87932	D	0	.	12.9348	0.58307	1.0:0.0:0.0:0.0	.	166	P60709	ACTB_HUMAN	H	166;138;85	ENSP00000349960:Y166H	ENSP00000440549:Y85H	Y	-	1	0	ACTB	5534744	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	8.991000	0.93514	1.941000	0.56285	0.529000	0.55759	TAC		0.622	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		G	5568218	A	G	5568218	3	3	348	1	0	0	0	0	1	0	0	0	193	420	15	4	643	4	ACTB	7	5568218	Missense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09		5568218	153570445	64	18881											
DGKB	1607	genome.wustl.edu	37	7	14378177	14378177	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:14378177G>A	ENST00000403951.2	-	23	2507	c.2088C>T	c.(2086-2088)acC>acT	p.T696T	DGKB_ENST00000444700.2_Silent_p.T677T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Silent_p.T696T|DGKB_ENST00000399322.3_Silent_p.T696T|DGKB_ENST00000407950.1_Silent_p.T688T|DGKB_ENST00000402815.1_Silent_p.T695T|DGKB_ENST00000406247.3_Silent_p.T696T			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	696					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.T696T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CATCTGTGACGGTGGTCCTTT	0.393																																																1	Substitution - coding silent(1)	lung(1)	7											189	175	179					7																	14378177		1850	4087	5937	14344702	SO:0001819	synonymous_variant	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2088C>T	7.37:g.14378177G>A			14344702	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	CCDS47547.1																																																																																				0.393	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		A	14378177	G	A	14378177	2	1	348	1	0	0	0	0	0	0	0	1	4466	1103	39	1		1	DGKB	7	14378177	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	8809959	14378177	144760486	65	18882											
CHN2	1124	genome.wustl.edu	37	7	29437980	29438002	+	Splice_Site	DEL	TACCTTCAGGTTTCATGGGATCA	TACCTTCAGGTTTCATGGGATCA	-	rs576269534		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	TACCTTCAGGTTTCATGGGATCA	TACCTTCAGGTTTCATGGGATCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:29437980_29438002delTACCTTCAGGTTTCATGGGATCA	ENST00000222792.6	+	5	706_720	c.176_190delTACCTTCAGGTTTCATGGGATCA	c.(175-192)gtaccttcaggtttcatg>gtg	p.PSGFM60fs	CHN2_ENST00000539389.1_Intron|CHN2_ENST00000495789.2_Splice_Site_p.PSGFM73fs|CHN2_ENST00000539406.1_Splice_Site_p.PSGFM135fs|CHN2_ENST00000435288.2_Splice_Site_p.PSGFM60fs|CHN2_ENST00000546235.1_Splice_Site_p.PSGFM45fs	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	60	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GATGGTCTTGTACCTTCAGGTTTCATGGGATCATCTCTCGGGA	0.534																																					Ovarian(1;44 48 13232 18918 31480)											0			7																																								29404527	SO:0001630	splice_region_variant	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.177-1TACCTTCAGGTTTCATGGGATCA>-	7.37:g.29437980_29438002delTACCTTCAGGTTTCATGGGATCA			29404505	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Splice_Site	DEL	ENST00000222792.6	37	CCDS5420.1																																																																																				0.534	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067	Frame_Shift_Del	-	29438002	TACCTTCAGGTTTCATGGGATCA	-	29437980	8	5	348	1	0	1	0	1	0	0	1	0	3363	1653	57	0		0	CHN2	7	29437980	Splice_Site	DEL	TACCTTCAGGTTTCATGGGATCA	TCGA-29-1775-01A-01W-0639-09	15059803	29437980	129700683	66	18883											
AZGP1	563	genome.wustl.edu	37	7	99569569	99569569	+	Missense_Mutation	SNP	G	G	A	rs142669146		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:99569569G>A	ENST00000292401.4	-	2	273	c.137C>T	c.(136-138)gCg>gTg	p.A46V	AZGP1_ENST00000411734.1_Missense_Mutation_p.A43V	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	46					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGCCTGAAACGCGGGGACGTC	0.493																																																0			7						G	VAL/ALA	0,4406		0,0,2203	95	91	92		137	-3	0	7	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	AZGP1	NM_001185.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	46/299	99569569	1,13005	2203	4300	6503	99407505	SO:0001583	missense	563			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.137C>T	7.37:g.99569569G>A	ENSP00000292401:p.Ala46Val		99407505	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	CCDS5680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.196|6.196	0.404290|0.404290	0.11754|0.11754	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160862|ENSG00000160862	ENST00000292401;ENST00000411734|ENST00000419575	D;D|.	0.89050|.	-2.46;-2.46|.	1.51|1.51	-3.02|-3.02	0.05446|0.05446	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	2.531660|.	0.02133|.	U|.	0.056538|.	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	B|.	0.22851|.	0.076|.	B|.	0.14578|.	0.011|.	T|T	0.24048|0.24048	-1.0171|-1.0171	10|5	0.87932|.	D|.	0|.	.|.	4.3489|4.3489	0.11146|0.11146	0.0:0.5104:0.1979:0.2917|0.0:0.5104:0.1979:0.2917	.|.	46|.	P25311|.	ZA2G_HUMAN|.	V|C	46;43|17	ENSP00000292401:A46V;ENSP00000396093:A43V|.	ENSP00000292401:A46V|.	A|R	-|-	2|1	0|0	AZGP1|AZGP1	99407505|99407505	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.357000|-0.357000	0.07651|0.07651	-1.296000|-1.296000	0.02353|0.02353	-2.301000|-2.301000	0.00260|0.00260	GCG|CGT		0.493	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		A	99569569	G	A	99569569	3	1	348	1	0	0	0	0	1	0	0	0	1239	1087	38	1	771	1	AZGP1	7	99569569	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	70131589	99569569	59569094	67	18884											
PIK3CG	5294	genome.wustl.edu	37	7	106509371	106509371	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:106509371G>A	ENST00000359195.3	+	2	1675	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K	PIK3CG_ENST00000440650.2_Silent_p.K455K|PIK3CG_ENST00000496166.1_Silent_p.K455K	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	455	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTGAGTCCAAGGGCAAAGTTC	0.537																																																0			7											74	76	76					7																	106509371		2203	4300	6503	106296607	SO:0001819	synonymous_variant	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1365G>A	7.37:g.106509371G>A			106296607	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	CCDS5739.1																																																																																				0.537	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106509371	G	A	106509371	2	1	348	1	0	0	0	0	0	0	0	1	11916	991	35	2		2	PIK3CG	7	106509371	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	6939802	106509371	52629292	68	18885											
DENND2A	27147	genome.wustl.edu	37	7	140267031	140267031	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:140267031T>A	ENST00000275884.6	-	8	2051	c.1634A>T	c.(1633-1635)cAg>cTg	p.Q545L	DENND2A_ENST00000492720.1_Missense_Mutation_p.Q545L|DENND2A_ENST00000496613.1_Missense_Mutation_p.Q545L|DENND2A_ENST00000537639.1_Missense_Mutation_p.Q545L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	545					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCGAGGCGCCTGCTTCAGCCG	0.567																																																0			7											36	38	37					7																	140267031		1923	4143	6066	139913500	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1634A>T	7.37:g.140267031T>A	ENSP00000275884:p.Gln545Leu		139913500	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.426241	0.62733	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.11063	3.51;3.51;3.51;2.81	5.86	4.69	0.59074	.	0.232431	0.37348	N	0.002128	T	0.06645	0.0170	N	0.14661	0.345	0.51767	D	0.999931	B;B	0.11235	0.004;0.0	B;B	0.16722	0.016;0.003	T	0.18903	-1.0322	10	0.59425	D	0.04	-20.6906	7.2999	0.26413	0.1276:0.069:0.0:0.8034	.	545;545	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	L	545	ENSP00000275884:Q545L;ENSP00000442245:Q545L;ENSP00000419654:Q545L;ENSP00000419464:Q545L	ENSP00000275884:Q545L	Q	-	2	0	DENND2A	139913500	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.667000	0.61561	2.241000	0.73720	0.533000	0.62120	CAG		0.567	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		A	140267031	T	A	140267031	3	1	348	1	0	0	0	0	1	0	0	0	4429	1580	55	5	1443	5	DENND2A	7	140267031	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	33757660	140267031	18871632	69	18886											
CTAGE4	100128553	genome.wustl.edu	37	7	143882509	143882509	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:143882509G>T	ENST00000486333.1	+	1	1951	c.1913G>T	c.(1912-1914)gGa>gTa	p.G638V		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	638						integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						AGACTGTCTGGACCAGCAGAA	0.398																																																0			7											1	1	1					7																	143882509		4	11	15	143513442	SO:0001583	missense	0			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.1913G>T	7.37:g.143882509G>T	ENSP00000419539:p.Gly638Val		143513442	A8K871|O95046	RNA	SNP	ENST00000486333.1	37	CCDS55176.1	.	.	.	.	.	.	.	.	.	.	.	5.897	0.349540	0.11182	.	.	ENSG00000225932	ENST00000486333	T	0.38240	1.15	.	.	.	.	.	.	.	.	T	0.59197	0.2176	M	0.87456	2.885	0.22266	N	0.999249	D	0.89917	1.0	D	0.78314	0.991	T	0.45934	-0.9227	7	0.72032	D	0.01	.	.	.	.	.	638	Q8IX94	CTGE4_HUMAN	V	638	ENSP00000419539:G638V	ENSP00000419539:G638V	G	+	2	0	CTAGE4	143513442	1.000000	0.71417	0.020000	0.16555	0.021000	0.10359	0.554000	0.23407	0.172000	0.19760	0.175000	0.17021	GGA		0.398	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495		T	143882509	G	T	143882509	3	4	348	1	0	0	0	0	1	0	0	0	3993	1174	41	3	1915	3	CTAGE4	7	143882509	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	3615478	143882509	15256154	70	18887											
CNTNAP2	26047	genome.wustl.edu	37	7	146829351	146829351	+	Silent	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr7:146829351T>C	ENST00000361727.3	+	8	1614	c.1098T>C	c.(1096-1098)ttT>ttC	p.F366F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	366	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTGAGCTTTTCTTGTGTGG	0.438										HNSCC(39;0.1)																																						0			7											113	114	113					7																	146829351		2203	4300	6503	146460284	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1098T>C	7.37:g.146829351T>C			146460284	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			C	146829351	T	C	146829351	2	2	348	1	0	0	0	0	0	0	0	1	3647	1838	64	4		4	CNTNAP2	7	146829351	Silent	SNP	T	TCGA-29-1775-01A-01W-0639-09	2946842	146829351	12309312	71	18888											
EXTL3	2137	genome.wustl.edu	37	8	28574102	28574102	+	Missense_Mutation	SNP	G	G	A	rs538938900		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:28574102G>A	ENST00000220562.4	+	3	1428	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	176					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGCCACTCGGGGCTGCCGGCT	0.597																																																0			8											66	70	69					8																	28574102		2203	4300	6503	28630021	SO:0001583	missense	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.526G>A	8.37:g.28574102G>A	ENSP00000220562:p.Gly176Ser		28630021	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	0.640	-0.813915	0.02798	.	.	ENSG00000012232	ENST00000220562	D	0.94650	-3.48	5.02	0.551	0.17225	.	0.437284	0.25397	N	0.030961	T	0.76528	0.4000	N	0.00729	-1.24	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.70114	-0.4961	9	.	.	.	-3.522	6.9271	0.24422	0.6371:0.0:0.3629:0.0	.	176	O43909	EXTL3_HUMAN	S	176	ENSP00000220562:G176S	.	G	+	1	0	EXTL3	28630021	1.000000	0.71417	0.545000	0.28153	0.890000	0.51754	2.195000	0.42677	0.181000	0.19994	0.485000	0.47835	GGC		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		A	28574102	G	A	28574102	3	1	348	1	0	0	0	0	1	0	0	0	5327	1232	43	2	528	2	EXTL3	8	28574102	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09		28574102	117789920	72	18889											
IDO1	3620	genome.wustl.edu	37	8	39775480	39775480	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:39775480A>T	ENST00000518237.1	+	2	813	c.174A>T	c.(172-174)agA>agT	p.R58S	RP11-44K6.2_ENST00000520185.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R58S|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	58					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TTCGAGAAAGAGTTGAGAAGG	0.323																																																0			8											85	81	82					8																	39775480		1864	4102	5966	39894637	SO:0001583	missense	3620			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.174A>T	8.37:g.39775480A>T	ENSP00000430950:p.Arg58Ser		39894637	Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	A	3.697	-0.062243	0.07317	.	.	ENSG00000131203	ENST00000518804;ENST00000519154;ENST00000522495;ENST00000518237	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.62	3.16	0.36331	.	1.097150	0.06833	N	0.794239	T	0.27063	0.0663	N	0.22421	0.69	0.27753	N	0.944091	B	0.26195	0.144	B	0.21151	0.033	T	0.28332	-1.0047	9	.	.	.	-2.4667	4.6881	0.12767	0.7436:0.0:0.0893:0.1671	.	58	P14902	I23O1_HUMAN	S	58	ENSP00000429297:R58S;ENSP00000428716:R58S;ENSP00000430505:R58S;ENSP00000430950:R58S	.	R	+	3	2	IDO1	39894637	0.998000	0.40836	0.609000	0.28983	0.230000	0.25150	3.498000	0.53302	0.378000	0.24764	0.455000	0.32223	AGA		0.323	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		T	39775480	A	T	39775480	3	4	348	1	0	0	0	0	1	0	0	0	7501	301	11	5	180	5	IDO1	8	39775480	Missense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	11201378	39775480	106588542	73	18890											
DCAF4L2	138009	genome.wustl.edu	37	8	88886141	88886141	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:88886141C>T	ENST00000319675.3	-	1	155	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	20										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGTCCCACTCTGACTGTCTT	0.527																																																0			8											70	66	68					8																	88886141		2203	4300	6503	88955257	SO:0001583	missense	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.59G>A	8.37:g.88886141C>T	ENSP00000316496:p.Arg20Lys		88955257		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276278	0.40294	.	.	ENSG00000176566	ENST00000319675	T	0.71817	-0.6	2.23	2.23	0.28157	WD40 repeat-like-containing domain (1);	0.044536	0.85682	D	0.000000	T	0.74726	0.3754	M	0.71581	2.175	0.09310	N	1	D	0.59767	0.986	P	0.54924	0.764	T	0.65565	-0.6137	10	0.66056	D	0.02	.	8.095	0.30822	0.0:1.0:0.0:0.0	.	20	Q8NA75	DC4L2_HUMAN	K	20	ENSP00000316496:R20K	ENSP00000316496:R20K	R	-	2	0	DCAF4L2	88955257	0.466000	0.25823	0.005000	0.12908	0.012000	0.07955	2.494000	0.45329	0.936000	0.37367	0.467000	0.42956	AGA		0.527	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		T	88886141	C	T	88886141	3	4	348	1	0	0	0	0	1	0	0	0	4272	913	32	2	1132	2	DCAF4L2	8	88886141	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	49110661	88886141	57477881	74	18891											
TRHR	7201	genome.wustl.edu	37	8	110131532	110131532	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:110131532A>T	ENST00000518632.1	+	3	1396	c.1045A>T	c.(1045-1047)Agt>Tgt	p.S349C	TRHR_ENST00000311762.2_Missense_Mutation_p.S349C			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	349					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGCTAACTACAGTGTGGCCCT	0.468																																																0			8											151	144	146					8																	110131532		2203	4299	6502	110200708	SO:0001583	missense	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1045A>T	8.37:g.110131532A>T	ENSP00000430711:p.Ser349Cys		110200708	Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106787	0.77096	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.68624	-0.34;-0.34	5.86	4.7	0.59300	.	0.073777	0.85682	D	0.000000	T	0.70657	0.3249	M	0.64404	1.975	0.51233	D	0.999916	D	0.54964	0.969	P	0.51866	0.682	T	0.70557	-0.4839	10	0.45353	T	0.12	-2.6262	11.3532	0.49600	0.9292:0.0:0.0708:0.0	.	349	P34981	TRFR_HUMAN	C	349	ENSP00000430711:S349C;ENSP00000309818:S349C	ENSP00000309818:S349C	S	+	1	0	TRHR	110200708	1.000000	0.71417	0.976000	0.42696	0.906000	0.53458	5.928000	0.70088	1.041000	0.40125	0.477000	0.44152	AGT		0.468	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			T	110131532	A	T	110131532	3	4	348	1	0	0	0	0	1	0	0	0	16480	188	7	5	1051	5	TRHR	8	110131532	Missense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	21245391	110131532	36232490	75	18892											
ATAD2	29028	genome.wustl.edu	37	8	124348664	124348664	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:124348664C>G	ENST00000287394.5	-	22	3267	c.3160G>C	c.(3160-3162)Gat>Cat	p.D1054H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D372H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1054	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGATTAGATCAATATCTCTC	0.373																																																0			8											101	95	97					8																	124348664		2203	4300	6503	124417845	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3160G>C	8.37:g.124348664C>G	ENSP00000287394:p.Asp1054His		124417845	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426915	0.83667	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.28666	1.6;1.6	5.89	5.89	0.94794	Bromodomain (6);	0.192457	0.53938	D	0.000051	T	0.53642	0.1809	L	0.54965	1.715	0.52501	D	0.999956	D	0.71674	0.998	D	0.71414	0.973	T	0.49370	-0.8947	10	0.62326	D	0.03	-27.2311	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1054	Q6PL18	ATAD2_HUMAN	H	1054;372	ENSP00000287394:D1054H;ENSP00000429213:D372H	ENSP00000287394:D1054H	D	-	1	0	ATAD2	124417845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.827000	0.69300	2.783000	0.95769	0.655000	0.94253	GAT		0.373	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		G	124348664	C	G	124348664	3	3	348	1	0	0	0	0	1	0	0	0	1071	826	29	3	1040	3	ATAD2	8	124348664	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	14217132	124348664	22015358	76	18893											
GSDMC	56169	genome.wustl.edu	37	8	130760843	130760843	+	Silent	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr8:130760843C>T	ENST00000276708.4	-	14	2312	c.1431G>A	c.(1429-1431)ctG>ctA	p.L477L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	477						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGGGGTTATCCAGCTCCATCC	0.587																																																0			8											112	101	104					8																	130760843		2203	4300	6503	130830025	SO:0001819	synonymous_variant	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1431G>A	8.37:g.130760843C>T			130830025	Q5XKF3|Q6P494	Silent	SNP	ENST00000276708.4	37	CCDS6360.1																																																																																				0.587	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			T	130760843	C	T	130760843	2	4	348	1	0	0	0	0	0	0	0	1	6818	581	21	2		2	GSDMC	8	130760843	Silent	SNP	C	TCGA-29-1775-01A-01W-0639-09	6412179	130760843	15603179	77	18894											
LAMC3	10319	genome.wustl.edu	37	9	133932336	133932336	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr9:133932336G>T	ENST00000361069.4	+	12	2093	c.1960G>T	c.(1960-1962)Gtc>Ttc	p.V654F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	654	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTGACTGAGGTCCGGCTCAC	0.602																																																0			9											68	72	71					9																	133932336		2203	4300	6503	132922157	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1960G>T	9.37:g.133932336G>T	ENSP00000354360:p.Val654Phe		132922157	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455811	0.43634	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.52754	0.65	4.95	4.95	0.65309	Laminin B type IV (2);	0.067211	0.64402	D	0.000013	T	0.70850	0.3271	M	0.80746	2.51	0.47698	D	0.999494	D	0.76494	0.999	D	0.75484	0.986	T	0.75889	-0.3158	10	0.72032	D	0.01	.	17.2687	0.87095	0.0:0.0:1.0:0.0	.	654	Q9Y6N6	LAMC3_HUMAN	F	654	ENSP00000354360:V654F	ENSP00000347156:V654F	V	+	1	0	LAMC3	132922157	1.000000	0.71417	0.843000	0.33291	0.020000	0.10135	7.118000	0.77137	2.316000	0.78162	0.650000	0.86243	GTC		0.602	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133932336	G	T	133932336	3	4	348	1	0	0	0	0	1	0	0	0	8616	1261	44	3	2006	3	LAMC3	9	133932336	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09		133932336	7281095	78	18895											
KRTAP5-6	440023	genome.wustl.edu	37	11	1718689	1718689	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:1718689T>C	ENST00000382160.1	+	1	265	c.214T>C	c.(214-216)Tct>Cct	p.S72P		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	72	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGCTGTGGCTCTTGTGGGGG	0.637																																																0			11											82	104	97					11																	1718689		2202	4299	6501	1675265	SO:0001583	missense	440023			AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"Keratin associated proteins"	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.214T>C	11.37:g.1718689T>C	ENSP00000371595:p.Ser72Pro		1675265	A1L452	Missense_Mutation	SNP	ENST00000382160.1	37	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	t	5.689	0.311740	0.10789	.	.	ENSG00000205864	ENST00000382160	T	0.09630	2.96	4.37	4.37	0.52481	.	.	.	.	.	T	0.21590	0.0520	L	0.56396	1.775	0.23594	N	0.997335	D	0.71674	0.998	D	0.74023	0.982	T	0.05178	-1.0901	9	0.02654	T	1	.	10.0169	0.42020	0.0:0.0:0.0:1.0	.	72	Q6L8G9	KRA56_HUMAN	P	72	ENSP00000371595:S72P	ENSP00000371595:S72P	S	+	1	0	KRTAP5-6	1675265	0.004000	0.15560	1.000000	0.80357	0.293000	0.27360	0.146000	0.16180	1.602000	0.50124	0.487000	0.48397	TCT		0.637	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			C	1718689	T	C	1718689	3	2	348	1	0	0	0	0	1	0	0	0	8565	1551	54	4	216	4	KRTAP5-6	11	1718689	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09		1718689	133287827	79	18896											
OR5L2	26338	genome.wustl.edu	37	11	55595556	55595556	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:55595556C>G	ENST00000378397.1	+	1	862	c.862C>G	c.(862-864)Ctg>Gtg	p.L288V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCTGAACCCCCTGATCTACAG	0.443										HNSCC(27;0.073)																																						0			11											56	56	56					11																	55595556		2200	4296	6496	55352132	SO:0001583	missense	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.862C>G	11.37:g.55595556C>G	ENSP00000367650:p.Leu288Val		55352132	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	9.547	1.114991	0.20795	.	.	ENSG00000205030	ENST00000378397	T	0.39592	1.07	5.1	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000862	T	0.33585	0.0868	L	0.60904	1.88	0.22666	N	0.99888	B	0.11235	0.004	B	0.15052	0.012	T	0.31971	-0.9924	10	0.56958	D	0.05	-20.3286	3.959	0.09403	0.1625:0.5495:0.0:0.288	.	288	Q8NGL0	OR5L2_HUMAN	V	288	ENSP00000367650:L288V	ENSP00000367650:L288V	L	+	1	2	OR5L2	55352132	0.000000	0.05858	0.636000	0.29352	0.609000	0.37215	-1.539000	0.02202	0.204000	0.20548	0.536000	0.68110	CTG		0.443	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		G	55595556	C	G	55595556	3	3	348	1	0	0	0	0	1	0	0	0	11171	680	24	3	864	3	OR5L2	11	55595556	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	53876867	55595556	79410960	80	18897											
NRXN2	9379	genome.wustl.edu	37	11	64417970	64417970	+	Missense_Mutation	SNP	G	G	T	rs369737815		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:64417970G>T	ENST00000377551.1	-	14	3270	c.3059C>A	c.(3058-3060)tCc>tAc	p.S1020Y	NRXN2_ENST00000409571.1_Missense_Mutation_p.S1013Y|NRXN2_ENST00000377559.3_Missense_Mutation_p.S980Y|NRXN2_ENST00000265459.6_Missense_Mutation_p.S1020Y|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	1020	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GACAGTGCGGGAGTCAATCTT	0.592																																																0			11											290	227	248					11																	64417970		2201	4297	6498	64174546	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3059C>A	11.37:g.64417970G>T	ENSP00000366774:p.Ser1020Tyr		64174546	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109235	0.77096	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42964	U	0.000625	D	0.83894	0.5353	L	0.45581	1.43	0.48975	D	0.999732	D;D;D	0.65815	0.982;0.99;0.995	D;P;D	0.64776	0.926;0.871;0.929	D	0.84388	0.0553	10	0.62326	D	0.03	.	10.8418	0.46720	0.0:0.1915:0.8085:0.0	.	980;1020;766	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	Y	1020;980;1020;980;1013	ENSP00000366774:S1020Y;ENSP00000366782:S980Y;ENSP00000265459:S1020Y;ENSP00000386416:S1013Y	ENSP00000265459:S1020Y	S	-	2	0	NRXN2	64174546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.407000	0.73280	2.488000	0.83962	0.655000	0.94253	TCC		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		T	64417970	G	T	64417970	3	4	348	1	0	0	0	0	1	0	0	0	10666	1174	41	3	2384	3	NRXN2	11	64417970	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	8822414	64417970	70588546	81	18898											
GAB2	9846	genome.wustl.edu	37	11	77930400	77930400	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:77930400T>C	ENST00000361507.4	-	10	2034	c.1949A>G	c.(1948-1950)aAg>aGg	p.K650R	GAB2_ENST00000340149.2_Missense_Mutation_p.K612R	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	650					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGCCTGGGTCTTCTCCTTGTC	0.577																																																0			11											141	112	122					11																	77930400		2200	4292	6492	77608048	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1949A>G	11.37:g.77930400T>C	ENSP00000354952:p.Lys650Arg		77608048	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550781	0.86127	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.24350	1.86;1.86	5.34	5.34	0.76211	.	0.060895	0.64402	U	0.000005	T	0.24509	0.0594	L	0.42632	1.34	0.54753	D	0.999983	B	0.20887	0.049	B	0.17433	0.018	T	0.02581	-1.1138	10	0.32370	T	0.25	-18.9489	15.6234	0.76829	0.0:0.0:0.0:1.0	.	650	Q9UQC2	GAB2_HUMAN	R	612;650	ENSP00000343959:K612R;ENSP00000354952:K650R	ENSP00000343959:K612R	K	-	2	0	GAB2	77608048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.219000	0.72231	2.146000	0.66826	0.377000	0.23210	AAG		0.577	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		C	77930400	T	C	77930400	3	2	348	1	0	0	0	0	1	0	0	0	6149	1609	56	4	85	4	GAB2	11	77930400	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	13512430	77930400	57076116	82	18899											
SLC36A4	120103	genome.wustl.edu	37	11	92881749	92881749	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:92881749G>C	ENST00000326402.4	-	11	1599	c.1469C>G	c.(1468-1470)cCt>cGt	p.P490R	SLC36A4_ENST00000529184.1_Missense_Mutation_p.P355R	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	490					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTTAGAAAAGGACTCTGTGG	0.338																																																0			11											95	109	104					11																	92881749		2201	4297	6498	92521397	SO:0001583	missense	120103			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1469C>G	11.37:g.92881749G>C	ENSP00000317382:p.Pro490Arg		92521397	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.213909	0.22289	.	.	ENSG00000180773	ENST00000326402;ENST00000529184	T;T	0.04083	3.8;3.71	5.41	3.44	0.39384	.	0.452872	0.23650	N	0.045927	T	0.03477	0.0100	L	0.29908	0.895	0.09310	N	1	B	0.23735	0.09	B	0.20577	0.03	T	0.46148	-0.9212	10	0.15066	T	0.55	0.5015	6.982	0.24708	0.3993:0.0:0.6007:0.0	.	490	Q6YBV0	S36A4_HUMAN	R	490;355	ENSP00000317382:P490R;ENSP00000436570:P355R	ENSP00000317382:P490R	P	-	2	0	SLC36A4	92521397	0.066000	0.20996	0.007000	0.13788	0.258000	0.26162	1.991000	0.40727	0.664000	0.31047	0.555000	0.69702	CCT		0.338	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			C	92881749	G	C	92881749	3	2	348	1	0	0	0	0	1	0	0	0	14599	1000	35	3	49	3	SLC36A4	11	92881749	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	14951349	92881749	42124767	83	18900											
MMP27	64066	genome.wustl.edu	37	11	102562594	102562594	+	Missense_Mutation	SNP	G	G	A	rs139805314		TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:102562594G>A	ENST00000260229.4	-	10	1536	c.1445C>T	c.(1444-1446)gCa>gTa	p.A482V		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	482	Required for retention in the endoplasmic reticulum. {ECO:0000269|PubMed:24548619}.				collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCCTGAATGTGCTTTTTCCTT	0.299																																																0			11											131	129	129					11																	102562594		2203	4298	6501	102067804	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1445C>T	11.37:g.102562594G>A	ENSP00000260229:p.Ala482Val		102067804	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	5.584	0.292544	0.10567	.	.	ENSG00000137675	ENST00000260229	T	0.13196	2.61	5.71	1.12	0.20585	.	1.491800	0.04084	N	0.310136	T	0.11922	0.0290	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35895	-0.9770	10	0.23302	T	0.38	.	8.4721	0.32991	0.3204:0.0:0.6796:0.0	.	482	Q9H306	MMP27_HUMAN	V	482	ENSP00000260229:A482V	ENSP00000260229:A482V	A	-	2	0	MMP27	102067804	0.000000	0.05858	0.013000	0.15412	0.063000	0.16089	-0.074000	0.11450	0.214000	0.20742	0.467000	0.42956	GCA		0.299	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102562594	G	A	102562594	3	1	348	1	0	0	0	0	1	0	0	0	9664	1319	46	2	100	2	MMP27	11	102562594	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	9680845	102562594	32443922	84	18901											
NCAPD3	23310	genome.wustl.edu	37	11	134046210	134046210	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr11:134046210G>A	ENST00000534548.2	-	24	3157	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1031					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTGGCAATGTCTGGGTGTG	0.433																																																0			11											109	105	106					11																	134046210		2201	4297	6498	133551420	SO:0001819	synonymous_variant	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3093C>T	11.37:g.134046210G>A			133551420	A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	CCDS31723.1																																																																																				0.433	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		A	134046210	G	A	134046210	2	1	348	1	0	0	0	0	0	0	0	1	10206	1368	48	2		2	NCAPD3	11	134046210	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	31483616	134046210	960306	85	18902											
CABP1	9478	genome.wustl.edu	37	12	121093997	121093997	+	Intron	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr12:121093997G>A	ENST00000316803.3	+	2	788				CABP1_ENST00000288616.3_Silent_p.Q49Q|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000453000.1_Silent_p.Q128Q	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCTGGCCCAGAACTGCGCAG	0.637																																																0			12											33	32	32					12																	121093997		2203	4300	6503	119578380	SO:0001627	intron_variant	9478			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3684G>A	12.37:g.121093997G>A			119578380	O95663|Q8N6H5|Q9NZU8	Silent	SNP	ENST00000316803.3	37	CCDS31913.1																																																																																				0.637	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		A	121093997	G	A	121093997	1	1	348	0	1	0	0	0	0	0	0	0	2531	933	33	2		2	CABP1	12	121093997	Intron	SNP	G	TCGA-29-1775-01A-01W-0639-09		121093997	12757898	86	18903											
SLC15A1	6564	genome.wustl.edu	37	13	99358478	99358502	+	Frame_Shift_Del	DEL	GTTTCCTTTGGGGAAGACTGGAAGA	GTTTCCTTTGGGGAAGACTGGAAGA	-	rs8187836	byFrequency	TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	GTTTCCTTTGGGGAAGACTGGAAGA	GTTTCCTTTGGGGAAGACTGGAAGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr13:99358478_99358502delGTTTCCTTTGGGGAAGACTGGAAGA	ENST00000376503.5	-	16	1210_1234	c.1155_1179delTCTTCCAGTCTTCCCCAAAGGAAAC	c.(1153-1179)actcttccagtcttccccaaaggaaacfs	p.TLPVFPKGN385fs		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	385					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTGGACTTCGTTTCCTTTGGGGAAGACTGGAAGAGTTTTCTGAG	0.404																																																0			13																																								98156503	SO:0001589	frameshift_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1155_1179delTCTTCCAGTCTTCCCCAAAGGAAAC	13.37:g.99358478_99358502delGTTTCCTTTGGGGAAGACTGGAAGA	ENSP00000365686:p.Thr385fs		98156479	Q5VW82	Frame_Shift_Del	DEL	ENST00000376503.5	37	CCDS9489.1																																																																																				0.404	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		-	99358502	GTTTCCTTTGGGGAAGACTGGAAGA	-	99358478	7	5	348	1	0	1	0	1	0	0	0	0	14401	1136	40	0	979	0	SLC15A1	13	99358478	Frame_Shift_Del	DEL	GTTTCCTTTGGGGAAGACTGGAAGA	TCGA-29-1775-01A-01W-0639-09		99358478	15811400	87	18904											
SLC15A1	6564	genome.wustl.edu	37	13	99378650	99378650	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr13:99378650G>A	ENST00000376503.5	-	3	130	c.75C>T	c.(73-75)tgC>tgT	p.C25C		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	25					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAAATCTTTCGCAAAACTCAT	0.453																																																0			13											84	79	81					13																	99378650		2203	4300	6503	98176651	SO:0001819	synonymous_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.75C>T	13.37:g.99378650G>A			98176651	Q5VW82	Silent	SNP	ENST00000376503.5	37	CCDS9489.1																																																																																				0.453	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		A	99378650	G	A	99378650	2	1	348	1	0	0	0	0	0	0	0	1	14401	1079	38	1		1	SLC15A1	13	99378650	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	20172	99378650	15791228	88	18905											
OR4N2	390429	genome.wustl.edu	37	14	20296008	20296008	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:20296008C>A	ENST00000315947.1	+	1	401	c.401C>A	c.(400-402)aCt>aAt	p.T134N	OR4N2_ENST00000568211.1_Missense_Mutation_p.T134N	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTATCCTACTGTCATGAAC	0.527																																																0			14											208	221	217					14																	20296008		2203	4300	6503	19365848	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.401C>A	14.37:g.20296008C>A	ENSP00000319601:p.Thr134Asn		19365848	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	7.980	0.750954	0.15778	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00902	5.56;5.56	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.261790	0.27354	N	0.019742	T	0.02083	0.0065	M	0.83852	2.665	0.09310	N	1	B	0.15141	0.012	B	0.17979	0.02	T	0.19679	-1.0298	10	0.59425	D	0.04	-6.8327	10.2052	0.43109	0.1985:0.8015:0.0:0.0	.	134	Q8NGD1	OR4N2_HUMAN	N	134	ENSP00000452022:T134N;ENSP00000319601:T134N	ENSP00000319601:T134N	T	+	2	0	OR4N2	19365848	0.000000	0.05858	0.334000	0.25495	0.462000	0.32619	-0.237000	0.08990	2.488000	0.83962	0.591000	0.81541	ACT		0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20296008	C	A	20296008	3	1	348	1	0	0	0	0	1	0	0	0	11077	565	20	3	403	3	OR4N2	14	20296008	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09		20296008	87053532	89	18906											
DCAF11	80344	genome.wustl.edu	37	14	24592240	24592240	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:24592240G>C	ENST00000446197.3	+	14	2187	c.1460G>C	c.(1459-1461)cGt>cCt	p.R487P	DCAF11_ENST00000396936.1_Missense_Mutation_p.R387P|DCAF11_ENST00000559115.1_Missense_Mutation_p.R487P|RP11-468E2.6_ENST00000558325.1_Silent_p.A76A|DCAF11_ENST00000396941.4_Missense_Mutation_p.R461P	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	487					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GCCTGTGTGCGTGACGTCAGT	0.552																																																0			14											167	134	145					14																	24592240		2203	4300	6503	23662080	SO:0001583	missense	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1460G>C	14.37:g.24592240G>C	ENSP00000415556:p.Arg487Pro		23662080	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.245655	0.80024	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.62364	0.03;0.03	5.33	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047500	0.85682	D	0.000000	T	0.81273	0.4788	M	0.90542	3.125	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.83076	-0.0140	10	0.39692	T	0.17	-16.0732	13.1265	0.59358	0.0:0.0:0.8388:0.1612	.	410;461;387;487;487	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	P	487;461;387;461	ENSP00000380142:R387P;ENSP00000380146:R461P	ENSP00000323680:R487P	R	+	2	0	DCAF11	23662080	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.467000	0.90390	1.454000	0.47793	0.655000	0.94253	CGT		0.552	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			C	24592240	G	C	24592240	3	2	348	1	0	0	0	0	1	0	0	0	4262	1145	40	3	1510	3	DCAF11	14	24592240	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	4296232	24592240	82757300	90	18907											
TBPL2	387332	genome.wustl.edu	37	14	55903409	55903409	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:55903409G>T	ENST00000247219.5	-	2	548	c.478C>A	c.(478-480)Cct>Act	p.P160T		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GTATCACCAGGGTGCAGCTGT	0.512																																																0			14											204	178	187					14																	55903409		2203	4300	6503	54973162	SO:0001583	missense	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.478C>A	14.37:g.55903409G>T	ENSP00000247219:p.Pro160Thr		54973162		Missense_Mutation	SNP	ENST00000247219.5	37	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	G	5.227	0.227436	0.09916	.	.	ENSG00000182521	ENST00000247219	T	0.50813	0.73	4.79	-1.1	0.09872	.	0.700863	0.14220	N	0.333482	T	0.34890	0.0913	L	0.57536	1.79	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.31223	-0.9951	10	0.48119	T	0.1	-0.5189	1.4039	0.02276	0.136:0.3489:0.209:0.306	.	160	Q6SJ96	TBPL2_HUMAN	T	160	ENSP00000247219:P160T	ENSP00000247219:P160T	P	-	1	0	TBPL2	54973162	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.533000	0.06157	-0.062000	0.13088	0.655000	0.94253	CCT		0.512	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		T	55903409	G	T	55903409	3	4	348	1	0	0	0	0	1	0	0	0	15646	1232	43	3	673	3	TBPL2	14	55903409	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	31311169	55903409	51446131	91	18908											
TC2N	123036	genome.wustl.edu	37	14	92253873	92253873	+	Silent	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr14:92253873T>G	ENST00000435962.2	-	10	1469	c.1146A>C	c.(1144-1146)tcA>tcC	p.S382S	TC2N_ENST00000360594.5_Silent_p.S382S|TC2N_ENST00000556018.1_Silent_p.S318S|TC2N_ENST00000340892.5_Silent_p.S382S	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	382	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TCAGAGGTGTTGATGAGCTTG	0.353																																																0			14											121	108	113					14																	92253873		2203	4300	6503	91323626	SO:0001819	synonymous_variant	123036			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1146A>C	14.37:g.92253873T>G			91323626		Silent	SNP	ENST00000435962.2	37	CCDS9897.1																																																																																				0.353	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		G	92253873	T	G	92253873	2	3	348	1	0	0	0	0	0	0	0	1	15665	1799	63	5		5	TC2N	14	92253873	Silent	SNP	T	TCGA-29-1775-01A-01W-0639-09	36350464	92253873	15095667	92	18909											
RYR3	6263	genome.wustl.edu	37	15	33941389	33941390	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	CA	CA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr15:33941389_33941390delCA	ENST00000389232.4	+	31	4165_4166	c.4095_4096delCA	c.(4093-4098)tgcacafs	p.T1366fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.T1366fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1366	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATAAAAACTGCACAGTGACTGT	0.54																																																0			15																																								31728682	SO:0001589	frameshift_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4095_4096delCA	15.37:g.33941391_33941392delCA	ENSP00000373884:p.Thr1366fs		31728681	O15175|Q15412	Frame_Shift_Del	DEL	ENST00000389232.4	37	CCDS45210.1																																																																																				0.54	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			-	33941390	CA	-	33941389	7	5	348	1	0	1	0	1	0	0	0	0	13773	718	25	0	4217	0	RYR3	15	33941389	Frame_Shift_Del	DEL	CA	TCGA-29-1775-01A-01W-0639-09		33941389	68590003	93	18910											
HDC	3067	genome.wustl.edu	37	15	50534683	50534683	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr15:50534683T>C	ENST00000267845.3	-	12	2165	c.1763A>G	c.(1762-1764)aAc>aGc	p.N588S	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.N555S	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TGGCACACTGTTGCAACTGAG	0.547																																					GBM(95;1627 1936 6910 9570)											0			15											166	178	174					15																	50534683		2196	4295	6491	48321975	SO:0001583	missense	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1763A>G	15.37:g.50534683T>C	ENSP00000267845:p.Asn588Ser		48321975		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	T	7.588	0.670207	0.14776	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.10288	3.08;2.89	5.68	3.37	0.38596	.	0.617897	0.15392	N	0.264762	T	0.07593	0.0191	N	0.22421	0.69	0.34536	D	0.709729	B;B	0.14012	0.009;0.004	B;B	0.10450	0.005;0.005	T	0.10636	-1.0621	10	0.49607	T	0.09	-27.1563	7.4704	0.27344	0.0:0.0718:0.2701:0.6581	.	555;588	B7ZM01;P19113	.;DCHS_HUMAN	S	588;555	ENSP00000267845:N588S;ENSP00000440252:N555S	ENSP00000267845:N588S	N	-	2	0	HDC	48321975	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	1.066000	0.30604	0.963000	0.38082	-0.461000	0.05368	AAC		0.547	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			C	50534683	T	C	50534683	3	2	348	1	0	0	0	0	1	0	0	0	7015	1725	60	4	229	4	HDC	15	50534683	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09	16593294	50534683	51996709	94	18911											
NAGPA	51172	genome.wustl.edu	37	16	5078935	5078935	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr16:5078935C>T	ENST00000312251.3	-	5	885	c.866G>A	c.(865-867)gGc>gAc	p.G289D	NAGPA_ENST00000381955.3_Missense_Mutation_p.G289D|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	289					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGTGGCAGAGCCACCCCCATC	0.597																																																0			16											143	128	133					16																	5078935		2197	4300	6497	5018936	SO:0001583	missense	51172			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.866G>A	16.37:g.5078935C>T	ENSP00000310998:p.Gly289Asp		5018936	B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516159	0.96402	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.50001	0.76;0.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.83755	0.0211	10	0.72032	D	0.01	-47.7599	19.5055	0.95113	0.0:1.0:0.0:0.0	.	289;289;289	Q9UK23-3;Q9UK23;Q9UK23-2	.;NAGPA_HUMAN;.	D	289	ENSP00000310998:G289D;ENSP00000371381:G289D	ENSP00000310998:G289D	G	-	2	0	NAGPA	5018936	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.712000	0.84684	2.613000	0.88420	0.561000	0.74099	GGC		0.597	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		T	5078935	C	T	5078935	3	4	348	1	0	0	0	0	1	0	0	0	10144	739	26	2	705	2	NAGPA	16	5078935	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09		5078935	85275818	95	18912											
AHSP	51327	genome.wustl.edu	37	16	31540011	31540011	+	Nonstop_Mutation	SNP	A	A	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr16:31540011A>T	ENST00000302312.4	+	3	411	c.308A>T	c.(307-309)tAg>tTg	p.*103L	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	0					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						CCCTCCTCCTAGCTCAGGGAC	0.572																																																0			16											27	25	26					16																	31540011		2197	4300	6497	31447512	SO:0001578	stop_lost	51327			AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"alpha hemoglobin stabilising protein"	605821	"erythroid associated factor"	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.308A>T	16.37:g.31540011A>T	ENSP00000307199:p.*103Leuext*9		31447512	Q8TD01	Nonstop_Mutation	SNP	ENST00000302312.4	37	CCDS10716.1	.	.	.	.	.	.	.	.	.	.	A	9.495	1.101643	0.20632	.	.	ENSG00000169877	ENST00000302312	.	.	.	4.98	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6319	0.12506	0.6224:0.1882:0.1893:0.0	.	.	.	.	L	103	.	.	X	+	2	0	AHSP	31447512	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.192000	0.17096	0.315000	0.23110	0.533000	0.62120	TAG		0.572	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255624.1	NM_016633		T	31540011	A	T	31540011	4	4	348	1	0	0	0	0	0	0	0	0	421	433	15	5	314	5	AHSP	16	31540011	Nonstop_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	26461076	31540011	58814742	96	18913											
TP53	7157	genome.wustl.edu	37	17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:7579377G>A	ENST00000269305.4	-	4	499	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000574684.1_5'Flank	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	104	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	TAGCTGCCCTGGTAGGTTTTC	0.632		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"	34	Substitution - Nonsense(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - deletion inframe(2)|Complex - compound substitution(1)	lung(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|biliary_tract(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|liver(1)	17											54	54	54					17																	7579377		2203	4300	6503	7520102	SO:0001587	stop_gained	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.310C>T	17.37:g.7579377G>A	ENSP00000269305:p.Gln104*		7520102	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460479	0.63401	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	4.75	0.60458	.	0.378699	0.29424	N	0.012186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	2.2505	11.3383	0.49518	0.0:0.1837:0.8163:0.0	.	.	.	.	X	104	.	ENSP00000269305:Q104X	Q	-	1	0	TP53	7520102	1.000000	0.71417	0.643000	0.29450	0.384000	0.30261	1.618000	0.36954	2.630000	0.89119	0.655000	0.94253	CAG		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7579377	G	A	7579377	4	1	348	1	0	0	0	0	0	1	0	0	16381	1357	47	2	992	2	TP53	17	7579377	Nonsense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09		7579377	73615833	97	18914											
EFTUD2	9343	genome.wustl.edu	37	17	42956968	42956968	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:42956968G>A	ENST00000426333.2	-	9	955	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	EFTUD2_ENST00000591382.1_Missense_Mutation_p.R220C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R210C|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R185C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	220	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCTGAGATGCGCAAGCCAGCT	0.478																																					Ovarian(10;65 485 10258 29980 30707)											0			17											109	95	99					17																	42956968		2203	4300	6503	40312494	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.658C>T	17.37:g.42956968G>A	ENSP00000392094:p.Arg220Cys		40312494	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528110	0.85706	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.80304	-1.36;-1.36	6.02	6.02	0.97574	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.93462	0.7914	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.94360	0.7587	10	0.87932	D	0	-6.9932	20.5373	0.99239	0.0:0.0:1.0:0.0	.	210;220	B4DMC0;Q15029	.;U5S1_HUMAN	C	220;210;185	ENSP00000392094:R220C;ENSP00000385873:R185C	ENSP00000262414:R210C	R	-	1	0	EFTUD2	40312494	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.150000	0.58098	2.857000	0.98124	0.650000	0.86243	CGC		0.478	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		A	42956968	G	A	42956968	3	1	348	1	0	0	0	0	1	0	0	0	4961	1087	38	1	2340	1	EFTUD2	17	42956968	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	35377591	42956968	38238242	98	18915											
B4GALNT2	124872	genome.wustl.edu	37	17	47246244	47246244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:47246244C>T	ENST00000300404.2	+	10	1536	c.1477C>T	c.(1477-1479)Caa>Taa	p.Q493*	B4GALNT2_ENST00000393354.2_Nonsense_Mutation_p.Q433*|B4GALNT2_ENST00000504681.1_Nonsense_Mutation_p.Q407*	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	493					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCCCCGCCTGCAACGAGTGGC	0.592																																					GBM(124;244 1635 8663 18097 33175)											0			17											39	33	35					17																	47246244		2203	4300	6503	44601243	SO:0001587	stop_gained	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1477C>T	17.37:g.47246244C>T	ENSP00000300404:p.Gln493*		44601243	B4DZE4|Q14CP1|Q86Y40	Nonsense_Mutation	SNP	ENST00000300404.2	37	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495796	0.96355	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	.	.	.	5.28	3.15	0.36227	.	0.236748	0.32055	N	0.006653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.295	12.9794	0.58555	0.315:0.685:0.0:0.0	.	.	.	.	X	407;433;493	.	ENSP00000300404:Q493X	Q	+	1	0	B4GALNT2	44601243	0.003000	0.15002	0.920000	0.36463	0.995000	0.86356	0.404000	0.20999	1.138000	0.42230	0.561000	0.74099	CAA		0.592	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		T	47246244	C	T	47246244	4	4	348	1	0	0	0	0	0	1	0	0	1267	711	25	2	1533	2	B4GALNT2	17	47246244	Nonsense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	4289276	47246244	33948966	99	18916											
MRPS23	51649	genome.wustl.edu	37	17	55918336	55918336	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:55918336G>C	ENST00000313608.8	-	4	416	c.371C>G	c.(370-372)gCt>gGt	p.A124G	MRPS23_ENST00000578444.1_Missense_Mutation_p.A124G	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	124					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					TGCCAATAAAGCCTTCCCTGT	0.398																																																0			17											246	217	227					17																	55918336		2203	4300	6503	53273335	SO:0001583	missense	51649			AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"Mitochondrial ribosomal proteins / small subunits"	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.371C>G	17.37:g.55918336G>C	ENSP00000320184:p.Ala124Gly		53273335	B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	ENST00000313608.8	37	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591459	0.86851	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.32	5.32	0.75619	Ribosomal protein S23/S25, mitochondrial (1);	0.048477	0.85682	D	0.000000	T	0.78767	0.4335	M	0.81682	2.555	0.58432	D	0.999992	D	0.63880	0.993	D	0.63957	0.92	T	0.81739	-0.0795	9	0.72032	D	0.01	.	15.9149	0.79503	0.0:0.0:1.0:0.0	.	124	Q9Y3D9	RT23_HUMAN	G	124	.	ENSP00000320184:A124G	A	-	2	0	MRPS23	53273335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.415000	0.59809	2.503000	0.84419	0.585000	0.79938	GCT		0.398	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		C	55918336	G	C	55918336	3	2	348	1	0	0	0	0	1	0	0	0	9834	971	34	3	209	3	MRPS23	17	55918336	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	8672092	55918336	25276874	100	18917											
CANT1	124583	genome.wustl.edu	37	17	76993257	76993257	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr17:76993257C>G	ENST00000302345.2	-	2	942	c.448G>C	c.(448-450)Gac>Cac	p.D150H	CANT1_ENST00000392446.5_Missense_Mutation_p.D150H|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.D150H	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	150					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACCCCATGGTCTTTGTCCCAT	0.557			T	ETV4	prostate																																		Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0			17											154	151	152					17																	76993257		2203	4300	6503	74504852	SO:0001583	missense	124583			AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.448G>C	17.37:g.76993257C>G	ENSP00000307674:p.Asp150His		74504852	B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	7.012	0.557070	0.13436	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.86497	-2.13;-2.13	5.27	3.29	0.37713	.	0.382752	0.31589	N	0.007400	T	0.77478	0.4136	L	0.27053	0.805	0.19300	N	0.99998	B	0.09022	0.002	B	0.11329	0.006	T	0.66590	-0.5885	10	0.52906	T	0.07	-11.8129	7.616	0.28158	0.0:0.7142:0.1364:0.1494	.	150	Q8WVQ1	CANT1_HUMAN	H	150;150;150;99	ENSP00000307674:D150H;ENSP00000376241:D150H	ENSP00000307674:D150H	D	-	1	0	CANT1	74504852	0.831000	0.29352	0.002000	0.10522	0.166000	0.22503	3.619000	0.54196	0.608000	0.30000	0.561000	0.74099	GAC		0.557	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		G	76993257	C	G	76993257	3	3	348	1	0	0	0	0	1	0	0	0	2617	913	32	3	769	3	CANT1	17	76993257	Missense_Mutation	SNP	C	TCGA-29-1775-01A-01W-0639-09	21074921	76993257	4201953	101	18918											
USP14	9097	genome.wustl.edu	37	18	211269	211269	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr18:211269G>C	ENST00000261601.7	+	16	1561	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	USP14_ENST00000582707.1_Missense_Mutation_p.E455D|USP14_ENST00000383589.2_Missense_Mutation_p.E444D|USP14_ENST00000400266.3_Missense_Mutation_p.E479D	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	490					negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TAATGGAAGAGGAAAGTGAAC	0.373																																																0			18											93	88	89					18																	211269		2203	4300	6503	201269	SO:0001583	missense	9097			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1470G>C	18.37:g.211269G>C	ENSP00000261601:p.Glu490Asp		201269	J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.884970	0.17540	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.32272	1.46;1.46	6.03	-2.52	0.06346	.	0.099945	0.64402	N	0.000003	T	0.13670	0.0331	L	0.27053	0.805	0.41496	D	0.988258	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.11329	0.006;0.002;0.004	T	0.08576	-1.0715	10	0.30078	T	0.28	-12.1839	1.3774	0.02223	0.3329:0.0895:0.3068:0.2708	.	479;455;490	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	D	490;455;479	ENSP00000261601:E490D;ENSP00000383125:E479D	ENSP00000261601:E490D	E	+	3	2	USP14	201269	1.000000	0.71417	0.983000	0.44433	0.927000	0.56198	0.693000	0.25497	-0.365000	0.08076	-0.150000	0.13652	GAG		0.373	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		C	211269	G	C	211269	3	2	348	1	0	0	0	0	1	0	0	0	17045	991	35	3	1532	3	USP14	18	211269	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09		211269	77865979	102	18919											
ZNF573	126231	genome.wustl.edu	37	19	38230576	38230576	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr19:38230576T>G	ENST00000590414.2	-	4	836	c.815A>C	c.(814-816)aAa>aCa	p.K272T	ZNF573_ENST00000392138.1_Missense_Mutation_p.K185T|ZNF573_ENST00000339503.4_Missense_Mutation_p.K214T|ZNF573_ENST00000357309.3_Missense_Mutation_p.K184T|ZNF573_ENST00000536220.1_Missense_Mutation_p.K184T			Q86YE8	ZN573_HUMAN	zinc finger protein 573	272					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)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTATATGGTTTTTCGCCAGT	0.428																																																0			19											109	106	107					19																	38230576		2203	4300	6503	42922416	SO:0001583	missense	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.815A>C	19.37:g.38230576T>G	ENSP00000465020:p.Lys272Thr		42922416	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714493	0.48622	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	2.33	2.33	0.28932	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48537	0.1505	M	0.81614	2.55	0.22982	N	0.998474	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	D;D;D;D	0.68353	0.954;0.928;0.957;0.928	T	0.24548	-1.0157	9	0.87932	D	0	.	9.0479	0.36358	0.0:0.0:0.0:1.0	.	185;214;252;184	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	T	185;184;184;214;184	ENSP00000375983:K185T;ENSP00000440464:K184T;ENSP00000349861:K184T;ENSP00000340171:K214T	ENSP00000340171:K214T	K	-	2	0	ZNF573	42922416	0.000000	0.05858	0.996000	0.52242	0.928000	0.56348	-0.139000	0.10358	0.935000	0.37341	0.477000	0.44152	AAA		0.428	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		G	38230576	T	G	38230576	3	3	348	1	0	0	0	0	1	0	0	0	18005	1841	64	5	1186	5	ZNF573	19	38230576	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09		38230576	20898407	103	18920											
ZNF227	7770	genome.wustl.edu	37	19	44739052	44739052	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr19:44739052A>G	ENST00000313040.7	+	6	674	c.469A>G	c.(469-471)Aaa>Gaa	p.K157E	ZNF227_ENST00000589005.1_Missense_Mutation_p.K106E|ZNF227_ENST00000391961.2_Missense_Mutation_p.K106E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	157					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AATGAACCCTAAAGGAGATAG	0.383																																																0			19											55	57	56					19																	44739052		2203	4300	6503	49430892	SO:0001583	missense	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.469A>G	19.37:g.44739052A>G	ENSP00000321049:p.Lys157Glu		49430892	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.677396	0.29783	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	T;T	0.08282	3.24;3.11	4.27	4.27	0.50696	.	.	.	.	.	T	0.05731	0.0150	N	0.22421	0.69	0.39063	D	0.960557	P;P;P;P	0.37781	0.608;0.608;0.608;0.608	B;B;B;B	0.34590	0.186;0.186;0.186;0.186	T	0.49934	-0.8886	9	0.20046	T	0.44	.	11.6814	0.51458	1.0:0.0:0.0:0.0	.	78;136;109;157	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	E	157;114;106;136	ENSP00000321049:K157E;ENSP00000375823:K106E	ENSP00000321049:K157E	K	+	1	0	ZNF227	49430892	0.039000	0.19947	0.546000	0.28166	0.727000	0.41649	1.158000	0.31737	1.919000	0.55581	0.460000	0.39030	AAA		0.383	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		G	44739052	A	G	44739052	3	3	348	1	0	0	0	0	1	0	0	0	17781	363	13	4	483	4	ZNF227	19	44739052	Missense_Mutation	SNP	A	TCGA-29-1775-01A-01W-0639-09	6508476	44739052	14389931	104	18921											
ZC3H4	23211	genome.wustl.edu	37	19	47597799	47597799	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr19:47597799G>A	ENST00000253048.5	-	3	265	c.228C>T	c.(226-228)tcC>tcT	p.S76S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	76							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S76S(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGGCCCTCCGGAGGTATCCT	0.522																																																1	Substitution - coding silent(1)	endometrium(1)	19											241	243	242					19																	47597799		1924	4131	6055	52289639	SO:0001819	synonymous_variant	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.228C>T	19.37:g.47597799G>A			52289639	Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																				0.522	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			A	47597799	G	A	47597799	2	1	348	1	0	0	0	0	0	0	0	1	17570	1103	39	1		1	ZC3H4	19	47597799	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	2858747	47597799	11531184	105	18922											
PIGU	128869	genome.wustl.edu	37	20	33233073	33233083	+	Splice_Site	DEL	ACTTACCATAA	ACTTACCATAA	-			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	ACTTACCATAA	ACTTACCATAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr20:33233073_33233083delACTTACCATAA	ENST00000452740.2	-	3	250_255	c.251_256delTTATGGTAAGT	c.(250-258)tttatggta>tta	p.FMV84fs	PIGU_ENST00000374820.2_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	84					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						atGGAAGGTTACTTACCATAAACACCAATTC	0.27																																																0			20																																								32696744	SO:0001630	splice_region_variant	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000452740.2:c.255+1TTATGGTAAGT>-	20.37:g.33233073_33233083delACTTACCATAA			32696734	Q7Z489|Q8N2F2	Splice_Site	DEL	ENST00000452740.2	37																																																																																					0.27	PIGU-202	KNOWN	basic	protein_coding	protein_coding		NM_080476	Frame_Shift_Del	-	33233083	ACTTACCATAA	-	33233073	8	5	348	1	0	1	0	1	0	0	1	0	11900	406	14	0		0	PIGU	20	33233073	Splice_Site	DEL	ACTTACCATAA	TCGA-29-1775-01A-01W-0639-09		33233073	29792447	106	18923											
WFDC12	128488	genome.wustl.edu	37	20	43752884	43752884	+	Silent	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chr20:43752884G>A	ENST00000372785.3	-	2	119	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	34	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				defense response to bacterium (GO:0042742)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				TGTCAGCTGGGCAAACCCCTG	0.582																																																0			20											103	88	93					20																	43752884		2203	4300	6503	43186298	SO:0001819	synonymous_variant	128488			Z93016	CCDS13343.1	20q13.12	2013-01-21	2003-02-21	2003-02-21	ENSG00000168703	ENSG00000168703		"WAP four-disulfide core domain containing"	16115	protein-coding gene	gene with protein product		609872	"chromosome 20 open reading frame 122"	C20orf122		11779191, 12206714	Standard	NM_080869		Approved	dJ211D12.4, WAP2	uc002xnf.1	Q8WWY7	OTTHUMG00000046412	ENST00000372785.3:c.102C>T	20.37:g.43752884G>A			43186298	Q5H980|Q9BR31	Silent	SNP	ENST00000372785.3	37	CCDS13343.1																																																																																				0.582	WFDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000107194.1			A	43752884	G	A	43752884	2	1	348	1	0	0	0	0	0	0	0	1	17350	1195	42	2		2	WFDC12	20	43752884	Silent	SNP	G	TCGA-29-1775-01A-01W-0639-09	10519811	43752884	19272636	107	18924											
AP1S2	8905	genome.wustl.edu	37	X	15870598	15870598	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chrX:15870598T>A	ENST00000329235.2	-	2	293	c.50A>T	c.(49-51)aAa>aTa	p.K17I	AP1S2_ENST00000421527.2_Missense_Mutation_p.K59I|AP1S2_ENST00000380291.1_Missense_Mutation_p.K17I|AP1S2_ENST00000545766.1_Missense_Mutation_p.K59I	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	17					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					gacataccatttttgcagtcg	0.353																																																0			X											118	94	102					X																	15870598		2203	4300	6503	15780519	SO:0001583	missense	8905			AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"mental retardation, X-linked 59", "mental retardation, X-linked, syndromic 5", "Pettigrew X-linked mental retardation syndrome"	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.50A>T	X.37:g.15870598T>A	ENSP00000328789:p.Lys17Ile		15780519	B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	ENST00000329235.2	37	CCDS14173.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	25.9|25.9|25.9	4.686864|4.686864|4.686864	0.88639|0.88639|0.88639	.|.|.	.|.|.	ENSG00000182287|ENSG00000182287|ENSG00000182287	ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000452376|ENST00000450644	.|.|.	.|.|.	.|.|.	5.83|5.83|5.83	5.83|5.83|5.83	0.93111|0.93111|0.93111	Longin-like (1);AP complex, mu/sigma subunit (1);|.|.	0.052180|0.052180|.	0.64402|0.64402|.	D|D|.	0.000001|0.000001|.	D|D|D	0.89329|0.89329|0.89329	0.6684|0.6684|0.6684	H|H|H	0.99058|0.99058|0.99058	4.415|4.415|4.415	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D|.|.	0.89917|.|.	1.0;0.978;0.999;0.999;0.999;1.0|.|.	D;D;D;D;D;D|.|.	0.91635|.|.	0.999;0.998;0.999;0.999;0.999;0.999|.|.	D|D|D	0.93495|0.93495|0.93495	0.6839|0.6839|0.6839	9|6|5	0.87932|.|.	D|.|.	0|.|.	-9.1298|-9.1298|-9.1298	15.1785|15.1785|15.1785	0.72934|0.72934|0.72934	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	17;59;59;17;17;14|.|.	B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.|.	.;.;.;.;AP1S2_HUMAN;.|.|.	I|N|Y	17;17;59;59;14|13|10	.|.|.	ENSP00000328789:K17I|.|.	K|K|N	-|-|-	2|3|1	0|2|0	AP1S2|AP1S2|AP1S2	15780519|15780519|15780519	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.923000|0.923000|0.923000	0.55619|0.55619|0.55619	7.650000|7.650000|7.650000	0.83521|0.83521|0.83521	1.968000|1.968000|1.968000	0.57251|0.57251|0.57251	0.486000|0.486000|0.486000	0.48141|0.48141|0.48141	AAA|AAA|AAT		0.353	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055893.1	NM_003916		A	15870598	T	A	15870598	3	1	348	1	0	0	0	0	1	0	0	0	737	1841	64	5	439	5	AP1S2	23	15870598	Missense_Mutation	SNP	T	TCGA-29-1775-01A-01W-0639-09		15870598	139399962	108	18925											
HDAC6	10013	genome.wustl.edu	37	X	48678597	48678597	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chrX:48678597G>A	ENST00000334136.5	+	23	2450	c.2272G>A	c.(2272-2274)Ggt>Agt	p.G758S	HDAC6_ENST00000444343.2_Missense_Mutation_p.G772S|HDAC6_ENST00000376619.2_Missense_Mutation_p.G758S			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	758	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTCACCTGAGGGTTATGCCCA	0.587																																					Pancreas(112;205 1675 2305 8976 15959)											0			X											82	66	71					X																	48678597		2203	4300	6503	48563541	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2272G>A	X.37:g.48678597G>A	ENSP00000334061:p.Gly758Ser		48563541	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	g	16.88	3.244004	0.58995	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72505	-0.66;-0.66;-0.66	5.25	3.41	0.39046	Histone deacetylase domain (2);	0.155822	0.40144	N	0.001161	T	0.78355	0.4270	M	0.64567	1.98	0.80722	D	1	D;D;D;D	0.76494	0.995;0.998;0.999;0.995	D;D;D;D	0.79108	0.959;0.975;0.992;0.959	T	0.73186	-0.4062	10	0.17832	T	0.49	-7.267	11.156	0.48489	0.0:0.0:0.6667:0.3333	.	748;121;406;758	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	S	772;758;758;758	ENSP00000398566:G772S;ENSP00000334061:G758S;ENSP00000365804:G758S	ENSP00000334061:G758S	G	+	1	0	HDAC6	48563541	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	2.865000	0.48412	0.539000	0.28788	0.597000	0.82753	GGT		0.587	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		A	48678597	G	A	48678597	3	1	348	1	0	0	0	0	1	0	0	0	7011	1232	43	2	2358	2	HDAC6	23	48678597	Missense_Mutation	SNP	G	TCGA-29-1775-01A-01W-0639-09	32807999	48678597	106591963	109	18926											
SLC25A43	203427	genome.wustl.edu	37	X	118585964	118585989	+	Splice_Site	DEL	CCTGTCAGGCTCAGAGCCCCTACCTC	CCTGTCAGGCTCAGAGCCCCTACCTC	-			TCGA-29-1775-01A-01W-0639-09	TCGA-29-1775-10A-01W-0639-09	CCTGTCAGGCTCAGAGCCCCTACCTC	CCTGTCAGGCTCAGAGCCCCTACCTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7b15ab86-69b5-44a8-b90c-c4274b6bd45a	3d076c6a-cd17-44c8-9fb7-409aa54629c5	g.chrX:118585964_118585989delCCTGTCAGGCTCAGAGCCCCTACCTC	ENST00000217909.7	+	4	1034_1052	c.690_708delCCTGTCAGGCTCAGAGCCCCTACCTC	c.(688-708)cacctgtcaggctcagagccc>ca	p.HLSGSEP230fs	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Splice_Site_p.PVRLRAP173fs	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	230					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						GCTTCTGTTTCCTGTCAGGCTCAGAGCCCCTACCTCCCACACAGTG	0.531																																																0			X																																								118470017	SO:0001630	splice_region_variant	203427			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"Solute carriers"	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.691-1CCTGTCAGGCTCAGAGCCCCTACCTC>-	X.37:g.118585964_118585989delCCTGTCAGGCTCAGAGCCCCTACCTC			118469992	O75854|Q8N9L5	Splice_Site	DEL	ENST00000217909.7	37	CCDS14577.1																																																																																				0.531	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305	Frame_Shift_Del	-	118585989	CCTGTCAGGCTCAGAGCCCCTACCTC	-	118585964	8	5	348	1	0	1	0	1	0	0	1	0	14511	870	30	0		0	SLC25A43	23	118585964	Splice_Site	DEL	CCTGTCAGGCTCAGAGCCCCTACCTC	TCGA-29-1775-01A-01W-0639-09	69907367	118585964	36684596	110	18927											
LPPR4	9890	genome.wustl.edu	37	1	99772177	99772177	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr1:99772177C>G	ENST00000370185.3	+	7	2400	c.1903C>G	c.(1903-1905)Cag>Gag	p.Q635E	LPPR4_ENST00000370184.1_Missense_Mutation_p.Q477E|LPPR4_ENST00000457765.1_Missense_Mutation_p.Q577E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		635					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCCCATCATACAGATCCCGTC	0.547																																																0			1											85	81	82					1																	99772177		2203	4300	6503	99544765	SO:0001583	missense	9890																														ENST00000370185.3:c.1903C>G	1.37:g.99772177C>G	ENSP00000359204:p.Gln635Glu		99544765	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863059	0.51482	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.23348	2.48;2.46;1.91	5.9	5.9	0.94986	.	0.064020	0.64402	N	0.000008	T	0.11537	0.0281	N	0.22421	0.69	0.58432	D	0.999996	B;B	0.28801	0.223;0.027	B;B	0.31101	0.124;0.012	T	0.11203	-1.0597	9	.	.	.	-25.3819	20.2822	0.98520	0.0:1.0:0.0:0.0	.	577;635	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	E	635;577;477	ENSP00000359204:Q635E;ENSP00000394913:Q577E;ENSP00000359203:Q477E	.	Q	+	1	0	RP4-788L13.1	99544765	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	5.674000	0.68117	2.806000	0.96561	0.655000	0.94253	CAG		0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			G	99772177	C	G	99772177	3	3	349	1	0	0	0	0	1	0	0	0	8927	479	17	3	1929	3	LPPR4	1	99772177	Missense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09		99772177	149478444	1	18928											
CABC1	56997	genome.wustl.edu	37	1	227174165	227174165	+	Silent	SNP	C	C	T	rs370899166		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr1:227174165C>T	ENST00000366779.1	+	20	4442	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	ADCK3_ENST00000458507.2_Silent_p.D278D|ADCK3_ENST00000366778.1_Silent_p.D505D|ADCK3_ENST00000433743.2_Silent_p.D231D|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366777.3_Silent_p.D557D			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	557					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TCATGGAAGACGCCCACTTGG	0.602																																																0			1						C		0,4406		0,0,2203	83	86	85		1671	-2.4	1	1		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCK3	NM_020247.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		557/648	227174165	1,13005	2203	4300	6503	225240788	SO:0001819	synonymous_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1671C>T	1.37:g.227174165C>T			225240788	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	CCDS1557.1																																																																																				0.602	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		T	227174165	C	T	227174165	2	4	349	1	0	0	0	0	0	0	0	1	2527	535	19	1		1	CABC1	1	227174165	Silent	SNP	C	TCGA-29-1776-01A-01W-0639-09	127401988	227174165	22076456	2	18929											
APOB	338	genome.wustl.edu	37	2	21225788	21225788	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:21225788T>A	ENST00000233242.1	-	29	12633	c.12506A>T	c.(12505-12507)gAt>gTt	p.D4169V	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4169					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACACGTTATCCTTGAGTCC	0.473																																																0			2											92	87	89					2																	21225788		2203	4300	6503	21079293	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12506A>T	2.37:g.21225788T>A	ENSP00000233242:p.Asp4169Val		21079293	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992937	0.54041	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00753	5.74	5.99	3.59	0.41128	.	1.240570	0.05537	N	0.564971	T	0.00815	0.0027	N	0.22421	0.69	0.18873	N	0.999984	P	0.34462	0.454	B	0.27380	0.079	T	0.52540	-0.8562	10	0.42905	T	0.14	.	8.2437	0.31675	0.0:0.0711:0.3183:0.6106	.	4169	P04114	APOB_HUMAN	V	4169	ENSP00000233242:D4169V	ENSP00000233242:D4169V	D	-	2	0	APOB	21079293	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.928000	0.28831	0.502000	0.28037	0.533000	0.62120	GAT		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21225788	T	A	21225788	3	1	349	1	0	0	0	0	1	0	0	0	785	1435	50	5	1189	5	APOB	2	21225788	Missense_Mutation	SNP	T	TCGA-29-1776-01A-01W-0639-09		21225788	221973585	3	18930											
CYP26B1	56603	genome.wustl.edu	37	2	72359490	72359490	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:72359490G>A	ENST00000001146.2	-	6	1608	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R278W|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R394W	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	469					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGAAGGTCCGTGTGGCCAGC	0.647																																																0			2											49	42	44					2																	72359490		2203	4300	6503	72212998	SO:0001583	missense	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1405C>T	2.37:g.72359490G>A	ENSP00000001146:p.Arg469Trp		72212998	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104116	0.76983	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.69040	-0.37;-0.37;-0.37	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.74348	0.983;0.905;0.983	T	0.73433	-0.3984	10	0.66056	D	0.02	2.2421	12.4297	0.55567	0.0:0.0:0.7416:0.2584	.	394;452;469	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	W	469;278;394	ENSP00000001146:R469W;ENSP00000401465:R278W;ENSP00000443304:R394W	ENSP00000001146:R469W	R	-	1	2	CYP26B1	72212998	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	2.329000	0.43876	2.837000	0.97791	0.655000	0.94253	CGG		0.647	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		A	72359490	G	A	72359490	3	1	349	1	0	0	0	0	1	0	0	0	4156	1144	40	1	137	1	CYP26B1	2	72359490	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	51133702	72359490	170839883	4	18931											
DDX18	8886	genome.wustl.edu	37	2	118575294	118575294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:118575294delT	ENST00000263239.2	+	2	488	c.360delT	c.(358-360)gatfs	p.D120fs	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	120					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGTGAATGATGCTGAGCCTG	0.358																																																0			2											84	96	92					2																	118575294		2114	4258	6372	118291764	SO:0001589	frameshift_variant	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.360delT	2.37:g.118575294delT	ENSP00000263239:p.Asp120fs		118291764	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Frame_Shift_Del	DEL	ENST00000263239.2	37	CCDS2120.1																																																																																				0.358	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		-	118575294	T	-	118575294	7	5	349	1	0	1	0	1	0	0	0	0	4345	1461	51	0	366	0	DDX18	2	118575294	Frame_Shift_Del	DEL	T	TCGA-29-1776-01A-01W-0639-09	46215804	118575294	124624079	5	18932											
WDR33	55339	genome.wustl.edu	37	2	128528402	128528402	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:128528402C>G	ENST00000322313.4	-	2	312	c.154G>C	c.(154-156)Gtg>Ctg	p.V52L	WDR33_ENST00000409658.3_Missense_Mutation_p.V52L|WDR33_ENST00000393006.1_Missense_Mutation_p.V52L	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	52					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTCGGTTCACAGCTTTTCTC	0.388																																																0			2											126	116	119					2																	128528402		2203	4300	6503	128244872	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.154G>C	2.37:g.128528402C>G	ENSP00000325377:p.Val52Leu		128244872	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344068	0.82022	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	M	0.67700	2.07	0.80722	D	1	B;B;D	0.58970	0.134;0.012;0.984	B;B;D	0.68192	0.147;0.022;0.956	T	0.66634	-0.5874	10	0.48119	T	0.1	-5.3261	19.7303	0.96180	0.0:1.0:0.0:0.0	.	52;52;52	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	L	52	ENSP00000325377:V52L;ENSP00000376730:V52L;ENSP00000387186:V52L;ENSP00000386861:V52L	ENSP00000325377:V52L	V	-	1	0	WDR33	128244872	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.704000	0.84595	2.671000	0.90904	0.591000	0.81541	GTG		0.388	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		G	128528402	C	G	128528402	3	3	349	1	0	0	0	0	1	0	0	0	17287	478	17	3	4349	3	WDR33	2	128528402	Missense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09	9953108	128528402	114670971	6	18933											
GRB14	2888	genome.wustl.edu	37	2	165365061	165365061	+	Splice_Site	SNP	C	C	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:165365061C>A	ENST00000263915.3	-	8	1466		c.e8-1		GRB14_ENST00000543549.1_Splice_Site	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTTTGTTAGGCTAGAAGGCCA	0.438																																																0			2											69	66	67					2																	165365061		2203	4300	6503	165073307	SO:0001630	splice_region_variant	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.928-1G>T	2.37:g.165365061C>A			165073307	B7Z7F9|Q7Z6I1	Splice_Site	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195236	0.78902	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1454	0.98074	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRB14	165073307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.113000	0.64640	2.748000	0.94277	0.650000	0.86243	.		0.438	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		Intron	A	165365061	C	A	165365061	5	1	349	1	0	0	0	0	0	0	1	0	6757	811	28	3	723	3	GRB14	2	165365061	Splice_Site	SNP	C	TCGA-29-1776-01A-01W-0639-09	36836659	165365061	77834312	7	18934											
ORC2L	4999	genome.wustl.edu	37	2	201785062	201785062	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:201785062G>A	ENST00000234296.2	-	15	1598	c.1349C>T	c.(1348-1350)aCa>aTa	p.T450I		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	450					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						AGGACTGTATGTAGTAGTTTC	0.388																																																0			2											107	112	110					2																	201785062		2203	4300	6503	201493307	SO:0001583	missense	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1349C>T	2.37:g.201785062G>A	ENSP00000234296:p.Thr450Ile		201493307	Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244375	0.95272	.	.	ENSG00000115942	ENST00000234296	T	0.65364	-0.15	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	D	0.87798	0.2623	10	0.87932	D	0	-13.3751	20.089	0.97809	0.0:0.0:1.0:0.0	.	450;450	B4DYU9;Q13416	.;ORC2_HUMAN	I	450	ENSP00000234296:T450I	ENSP00000234296:T450I	T	-	2	0	ORC2	201493307	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.752000	0.94435	0.557000	0.71058	ACA		0.388	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		A	201785062	G	A	201785062	3	1	349	1	0	0	0	0	1	0	0	0	11262	1377	48	2	400	2	ORC2L	2	201785062	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	36420001	201785062	41414311	8	18935											
NEU4	129807	genome.wustl.edu	37	2	242755868	242755868	+	Missense_Mutation	SNP	G	G	C	rs182769189	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr2:242755868G>C	ENST00000391969.2	+	3	898	c.187G>C	c.(187-189)Ggg>Cgg	p.G63R	NEU4_ENST00000325935.6_Missense_Mutation_p.G76R|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000407683.1_Missense_Mutation_p.G63R|NEU4_ENST00000405370.1_Missense_Mutation_p.G63R|NEU4_ENST00000404257.1_Missense_Mutation_p.G75R	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	63					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CACGCTGGCCGGGGGCTCCGT	0.751													G|||	29	0.00579073	0.0197	0.0029	5008	,	,		11668	0		0.001	False		,,,				2504	0															0			2						G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	27,3695		0,27,1834	3	4	3		226,187,187,187,223	-1.5	0.1	2		3	4,7350		0,4,3673	no	missense,missense,missense,missense,missense	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	125,125,125,125,125	0,31,5507	CC,CG,GG		0.0544,0.7254,0.2799	benign,benign,benign,benign,benign	76/498,63/485,63/485,63/485,75/497	242755868	31,11045	1861	3677	5538	242404541	SO:0001583	missense	129807			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.187G>C	2.37:g.242755868G>C	ENSP00000375830:p.Gly63Arg		242404541	A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	CCDS54442.1	13	0.005952380952380952	10	0.02032520325203252	3	0.008287292817679558	0	0.0	0	0.0	G	1.658	-0.512324	0.04200	0.007254	5.44E-4	ENSG00000204099	ENST00000407683;ENST00000415936;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	D;D;D;D;D;D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	3.62	-1.48	0.08745	Neuraminidase (2);	0.377447	0.27636	N	0.018486	T	0.62938	0.2469	N	0.12887	0.27	0.09310	N	0.999999	B;B;B	0.17465	0.013;0.011;0.022	B;B;B	0.21708	0.029;0.017;0.036	T	0.59252	-0.7489	10	0.22109	T	0.4	-10.402	5.8543	0.18710	0.2631:0.4027:0.3341:0.0	.	75;75;63	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	R	63;63;63;73;63;75;63;76;63;75;63;104	ENSP00000385402:G63R;ENSP00000397167:G63R;ENSP00000384804:G63R;ENSP00000397860:G63R;ENSP00000385149:G75R;ENSP00000375830:G63R;ENSP00000320318:G76R;ENSP00000398571:G63R;ENSP00000406678:G75R;ENSP00000388707:G63R;ENSP00000396197:G104R	ENSP00000320318:G76R	G	+	1	0	NEU4	242404541	0.196000	0.23350	0.145000	0.22337	0.255000	0.26057	0.418000	0.21230	0.073000	0.16731	-0.531000	0.04308	GGG		0.751	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		C	242755868	G	C	242755868	3	2	349	1	0	0	0	0	1	0	0	0	10344	1116	39	3	232	3	NEU4	2	242755868	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	40970806	242755868	443505	9	18936											
C4orf50	389197	genome.wustl.edu	37	4	5961153	5961153	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:5961153G>C	ENST00000324058.5	-	7	869	c.780C>G	c.(778-780)agC>agG	p.S260R	C4orf50_ENST00000531445.1_Missense_Mutation_p.S734R			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	260										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGCTGCAAATGCTTTGTCTAA	0.493																																																0			4											121	116	118					4																	5961153		2203	4300	6503	6012054	SO:0001583	missense	389197			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.780C>G	4.37:g.5961153G>C	ENSP00000317287:p.Ser260Arg		6012054		Missense_Mutation	SNP	ENST00000324058.5	37		.	.	.	.	.	.	.	.	.	.	G	15.28	2.787380	0.49997	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.36157	1.27;1.27	4.5	2.74	0.32292	.	0.000000	0.48286	D	0.000183	T	0.51770	0.1694	M	0.67953	2.075	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37384	-0.9708	10	0.72032	D	0.01	-16.3487	6.2223	0.20687	0.2319:0.0:0.7681:0.0	.	260	Q6ZRC1	CD050_HUMAN	R	734;260	ENSP00000437121:S734R;ENSP00000317287:S260R	ENSP00000317287:S260R	S	-	3	2	C4orf50	6012054	0.531000	0.26338	0.005000	0.12908	0.962000	0.63368	0.801000	0.27055	0.503000	0.28060	0.655000	0.94253	AGC		0.493	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		C	5961153	G	C	5961153	3	2	349	1	0	0	0	0	1	0	0	0	2276	1310	46	3	54	3	C4orf50	4	5961153	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09		5961153	185193123	10	18937											
CC2D2A	57545	genome.wustl.edu	37	4	15518283	15518283	+	Silent	SNP	A	A	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:15518283A>T	ENST00000503292.1	+	12	1233	c.1053A>T	c.(1051-1053)ctA>ctT	p.L351L	CC2D2A_ENST00000413206.1_Silent_p.L351L|CC2D2A_ENST00000389652.5_Silent_p.L302L|CC2D2A_ENST00000424120.1_Silent_p.L351L|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	351					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCAGGATCCTAGCTCTGCCAA	0.453																																																0			4											60	64	63					4																	15518283		1921	4122	6043	15127381	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1053A>T	4.37:g.15518283A>T			15127381	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	CCDS47026.1																																																																																				0.453	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		T	15518283	A	T	15518283	2	4	349	1	0	0	0	0	0	0	0	1	2728	407	15	5		5	CC2D2A	4	15518283	Silent	SNP	A	TCGA-29-1776-01A-01W-0639-09	9557130	15518283	175635993	11	18938											
CC2D2A	57545	genome.wustl.edu	37	4	15539713	15539713	+	Silent	SNP	G	G	A	rs375131519	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:15539713G>A	ENST00000503292.1	+	17	2136	c.1956G>A	c.(1954-1956)ccG>ccA	p.P652P	CC2D2A_ENST00000413206.1_Silent_p.P652P|CC2D2A_ENST00000389652.5_Silent_p.P603P|CC2D2A_ENST00000424120.1_Silent_p.P652P|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	652					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CGCTGGTCCCGGAGCTAAGCC	0.607													G|||	2	0.000399361	0.0015	0	5008	,	,		17596	0		0	False		,,,				2504	0															0			4						G		9,4373		0,9,2182	36	44	42		1956	-10.8	0.1	4		42	0,8580		0,0,4290	no	coding-synonymous	CC2D2A	NM_001080522.2		0,9,6472	AA,AG,GG		0.0,0.2054,0.0694		652/1621	15539713	9,12953	2191	4290	6481	15148811	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1956G>A	4.37:g.15539713G>A			15148811	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	CCDS47026.1																																																																																				0.607	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		A	15539713	G	A	15539713	2	1	349	1	0	0	0	0	0	0	0	1	2728	1103	39	1		1	CC2D2A	4	15539713	Silent	SNP	G	TCGA-29-1776-01A-01W-0639-09	21430	15539713	175614563	12	18939											
UBE2K	3093	genome.wustl.edu	37	4	39779301	39779301	+	Splice_Site	SNP	G	G	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:39779301G>C	ENST00000261427.5	+	6	683		c.e6-1		UBE2K_ENST00000438068.2_Splice_Site|UBE2K_ENST00000445950.2_Intron|UBE2K_ENST00000295963.6_Splice_Site|UBE2K_ENST00000503368.1_Splice_Site	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K						intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						CCCCCATATAGTACAAACAAA	0.353																																					NSCLC(101;689 1592 16105 29682 31745)											0			4											80	83	82					4																	39779301		2203	4300	6503	39455696	SO:0001630	splice_region_variant	3093			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"Ubiquitin-conjugating enzymes E2"	4914	protein-coding gene	gene with protein product		602846	"huntingtin interacting protein 2", "ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.400-1G>C	4.37:g.39779301G>C			39455696	A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Splice_Site	SNP	ENST00000261427.5	37	CCDS33976.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755472	0.89843	.	.	ENSG00000078140	ENST00000261427;ENST00000295963;ENST00000510934;ENST00000503368	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8764	0.96873	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2K	39455696	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.813000	0.99286	2.768000	0.95171	0.655000	0.94253	.		0.353	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339	Intron	C	39779301	G	C	39779301	5	2	349	1	0	0	0	0	0	0	1	0	16862	1043	36	3	421	3	UBE2K	4	39779301	Splice_Site	SNP	G	TCGA-29-1776-01A-01W-0639-09	24239588	39779301	151374975	13	18940											
CSN1S1	1446	genome.wustl.edu	37	4	70800427	70800427	+	Splice_Site	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:70800427A>G	ENST00000246891.4	+	4	153	c.104A>G	c.(103-105)gAg>gGg	p.E35G	CSN1S1_ENST00000444405.3_Splice_Site_p.E35G|CSN1S1_ENST00000507763.1_Splice_Site_p.E35G|CSN1S1_ENST00000507772.1_Splice_Site_p.E35G|CSN1S1_ENST00000505782.1_Splice_Site_p.E35G	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	35						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						GAGAGCAGTGAGGTAAGCTCT	0.348																																																0			4											178	172	174					4																	70800427		1847	4093	5940	70835016	SO:0001630	splice_region_variant	1446			X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.105+1A>G	4.37:g.70800427A>G			70835016	A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	CCDS47067.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356928	0.41801	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782	T;T;T;T;T	0.54479	0.57;0.59;0.59;0.59;0.58	3.9	3.9	0.45041	.	0.000000	0.43110	D	0.000602	T	0.59528	0.2200	L	0.40543	1.245	0.09310	N	1.0	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.71656	0.974;0.974;0.974	T	0.69525	-0.5122	9	0.59425	D	0.04	-0.6745	9.4401	0.38664	1.0:0.0:0.0:0.0	.	35;35;35	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	G	35	ENSP00000246891:E35G;ENSP00000413157:E35G;ENSP00000422611:E35G;ENSP00000427490:E35G;ENSP00000426684:E35G	ENSP00000246891:E35G	E	+	2	0	CSN1S1	70835016	0.990000	0.36364	0.945000	0.38365	0.327000	0.28475	3.298000	0.51818	2.005000	0.58758	0.528000	0.53228	GAG		0.348	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1		Missense_Mutation	G	70800427	A	G	70800427	5	3	349	1	0	0	0	0	0	0	1	0	3947	318	11	4	114	4	CSN1S1	4	70800427	Splice_Site	SNP	A	TCGA-29-1776-01A-01W-0639-09	31021126	70800427	120353849	14	18941											
MEPE	56955	genome.wustl.edu	37	4	88767035	88767035	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr4:88767035delA	ENST00000424957.3	+	4	1088	c.1015delA	c.(1015-1017)aacfs	p.N339fs	MEPE_ENST00000540395.1_Frame_Shift_Del_p.N226fs|MEPE_ENST00000560249.1_Frame_Shift_Del_p.N226fs|MEPE_ENST00000497649.2_Frame_Shift_Del_p.N315fs|MEPE_ENST00000361056.3_Frame_Shift_Del_p.N339fs|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Frame_Shift_Del_p.N370fs	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	339					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAGGGCAGCAACGATATCAT	0.473																																																0			4											58	56	57					4																	88767035		2203	4300	6503	88986059	SO:0001589	frameshift_variant	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1015delA	4.37:g.88767035delA	ENSP00000416984:p.Asn339fs		88986059	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Frame_Shift_Del	DEL	ENST00000424957.3	37	CCDS3625.1																																																																																				0.473	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			-	88767035	A	-	88767035	7	5	349	1	0	1	0	1	0	0	0	0	9478	130	5	0	1025	0	MEPE	4	88767035	Frame_Shift_Del	DEL	A	TCGA-29-1776-01A-01W-0639-09	17966608	88767035	102387241	15	18942											
APC	324	genome.wustl.edu	37	5	112179713	112179713	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr5:112179713C>G	ENST00000457016.1	+	16	8802	c.8422C>G	c.(8422-8424)Cca>Gca	p.P2808A	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P2808A|APC_ENST00000508376.2_Missense_Mutation_p.P2808A			P25054	APC_HUMAN	adenomatous polyposis coli	2808	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATCCCAACTCCAGTGAATAA	0.488		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)	5											84	87	86					5																	112179713		2202	4300	6502	112207612	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8422C>G	5.37:g.112179713C>G	ENSP00000413133:p.Pro2808Ala		112207612	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365891	0.61513	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83591	-1.74;-1.74;-1.74	5.92	5.92	0.95590	EB-1 binding (1);	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.992	D	0.84989	0.0893	9	.	.	.	-16.6529	20.3248	0.98698	0.0:1.0:0.0:0.0	.	2810;2808	Q4LE70;P25054	.;APC_HUMAN	A	2808	ENSP00000413133:P2808A;ENSP00000257430:P2808A;ENSP00000427089:P2808A	.	P	+	1	0	APC	112207612	1.000000	0.71417	0.554000	0.28268	0.992000	0.81027	5.219000	0.65262	2.818000	0.97014	0.655000	0.94253	CCA		0.488	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112179713	C	G	112179713	3	3	349	1	0	0	0	0	1	0	0	0	763	855	30	3	8480	3	APC	5	112179713	Missense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09		112179713	68735547	16	18943											
MGAT1	4245	genome.wustl.edu	37	5	180219792	180219792	+	Silent	SNP	G	G	A	rs78691485	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr5:180219792G>A	ENST00000446023.2	-	3	930	c.180C>T	c.(178-180)gaC>gaT	p.D60D	MGAT1_ENST00000307826.4_Silent_p.D60D|MGAT1_ENST00000393340.3_Silent_p.D60D|MGAT1_ENST00000333055.3_Silent_p.D60D|MGAT1_ENST00000427865.2_Silent_p.D60D	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	60					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCTCGGCGTCTTGGGCCA	0.726													G|||	86	0.0171725	0.0628	0.0043	5008	,	,		14717	0		0	False		,,,				2504	0															0			5						G	,,,,	139,4109		0,139,1985	9	8	8		180,180,180,180,180	-9.5	0	5	dbSNP_131	8	6,8360		0,6,4177	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGAT1	NM_001114617.1,NM_001114618.1,NM_001114619.1,NM_001114620.1,NM_002406.3	,,,,	0,145,6162	AA,AG,GG		0.0717,3.2721,1.1495	,,,,	60/446,60/446,60/446,60/446,60/446	180219792	145,12469	2124	4183	6307	180152398	SO:0001819	synonymous_variant	4245			M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.180C>T	5.37:g.180219792G>A			180152398	A8K404|B3KRU8|D3DWR1|Q6IBE3	Silent	SNP	ENST00000446023.2	37	CCDS4458.1																																																																																				0.726	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		A	180219792	G	A	180219792	2	1	349	1	0	0	0	0	0	0	0	1	9542	1136	40	1		1	MGAT1	5	180219792	Silent	SNP	G	TCGA-29-1776-01A-01W-0639-09	68040079	180219792	695468	17	18944											
KIF13A	63971	genome.wustl.edu	37	6	17794893	17794893	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr6:17794893T>C	ENST00000259711.6	-	24	3090	c.2985A>G	c.(2983-2985)atA>atG	p.I995M	KIF13A_ENST00000378843.2_Missense_Mutation_p.I995M|KIF13A_ENST00000378826.2_Missense_Mutation_p.I995M|KIF13A_ENST00000378816.5_Missense_Mutation_p.I995M|KIF13A_ENST00000378814.5_Missense_Mutation_p.I995M	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	995					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCAATTCTAATATGGAGATCC	0.418																																																0			6											103	98	100					6																	17794893		1943	4143	6086	17902872	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2985A>G	6.37:g.17794893T>C	ENSP00000259711:p.Ile995Met		17902872	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.63|16.63	3.176104|3.176104	0.57692|0.57692	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044|ENST00000358380	T;T;T;T;T;T|.	0.79554|.	-1.24;1.18;-1.28;-1.26;-1.24;-1.25|.	5.55|5.55	-4.56|-4.56	0.03431|0.03431	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47563|0.47563	0.1452|0.1452	M|M	0.86178|0.86178	2.8|2.8	0.31418|0.31418	N|N	0.674677|0.674677	D;D;D;D|.	0.65815|.	0.987;0.99;0.995;0.99|.	P;P;D;P|.	0.63033|.	0.885;0.887;0.91;0.887|.	T|T	0.56872|0.56872	-0.7907|-0.7907	10|5	0.87932|.	D|.	0|.	.|.	8.3704|8.3704	0.32412|0.32412	0.3707:0.0:0.4118:0.2175|0.3707:0.0:0.4118:0.2175	.|.	995;995;995;995|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	M|C	995;12;995;995;995;995;55|389	ENSP00000368091:I995M;ENSP00000425616:I12M;ENSP00000259711:I995M;ENSP00000368103:I995M;ENSP00000368120:I995M;ENSP00000368093:I995M|.	ENSP00000259711:I995M|.	I|Y	-|-	3|2	3|0	KIF13A|KIF13A	17902872|17902872	0.003000|0.003000	0.15002|0.15002	0.026000|0.026000	0.17262|0.17262	0.968000|0.968000	0.65278|0.65278	-1.222000|-1.222000	0.02965|0.02965	-0.474000|-0.474000	0.06862|0.06862	-0.336000|-0.336000	0.08194|0.08194	ATA|TAT		0.418	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			C	17794893	T	C	17794893	3	2	349	1	0	0	0	0	1	0	0	0	8274	1396	49	4	2521	4	KIF13A	6	17794893	Missense_Mutation	SNP	T	TCGA-29-1776-01A-01W-0639-09		17794893	153320174	18	18945											
TMEM63B	55362	genome.wustl.edu	37	6	44118029	44118029	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr6:44118029C>G	ENST00000259746.9	+	17	1772	c.1589C>G	c.(1588-1590)cCc>cGc	p.P530R	TMEM63B_ENST00000323267.6_Missense_Mutation_p.P530R			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	530					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGCTCCTACCCTCGCTGGGA	0.592																																																0			6											139	111	120					6																	44118029		2203	4300	6503	44226007	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1589C>G	6.37:g.44118029C>G	ENSP00000259746:p.Pro530Arg		44226007	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.539514|4.539514	0.85917|0.85917	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000371893|ENST00000259746;ENST00000323267	T|T;T	0.29655|0.30981	1.56|1.51;1.51	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Domain of unknown function DUF221 (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.53061|0.53061	0.1773|0.1773	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.58515|0.58515	-0.7623|-0.7623	8|10	0.72032|0.87932	D|D	0.01|0	.|.	17.6951|17.6951	0.88279|0.88279	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|530	.|Q5T3F8	.|TM63B_HUMAN	A|R	459|530	ENSP00000360960:P459A|ENSP00000259746:P530R;ENSP00000327154:P530R	ENSP00000360960:P459A|ENSP00000259746:P530R	P|P	+|+	1|2	0|0	TMEM63B|TMEM63B	44226007|44226007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.590000|7.590000	0.82653|0.82653	2.654000|2.654000	0.90174|0.90174	0.561000|0.561000	0.74099|0.74099	CCT|CCC		0.592	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		G	44118029	C	G	44118029	3	3	349	1	0	0	0	0	1	0	0	0	16191	623	22	3	1651	3	TMEM63B	6	44118029	Missense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09	26323136	44118029	126997038	19	18946											
TCP1	6950	genome.wustl.edu	37	6	160206972	160206972	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr6:160206972G>T	ENST00000321394.7	-	4	617	c.337C>A	c.(337-339)Cat>Aat	p.H113N	TCP1_ENST00000546023.1_5'Flank|SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_5'UTR|TCP1_ENST00000420894.2_Missense_Mutation_p.H113N	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	113					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GATGTGGGATGAATTTTCTGT	0.353																																																0			6											133	114	121					6																	160206972		2203	4298	6501	160126962	SO:0001583	missense	6950			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"Heat Shock Proteins / Chaperonins"	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.337C>A	6.37:g.160206972G>T	ENSP00000317334:p.His113Asn		160126962	E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839438	0.91117	.	.	ENSG00000120438	ENST00000321394;ENST00000420894;ENST00000539948;ENST00000537390;ENST00000536394	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.93808	0.8020	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95547	0.8617	10	0.87932	D	0	-23.7863	19.6634	0.95882	0.0:0.0:1.0:0.0	.	113;113	E7ERF2;P17987	.;TCPA_HUMAN	N	113;113;91;91;91	ENSP00000317334:H113N;ENSP00000390159:H113N;ENSP00000439671:H91N;ENSP00000437840:H91N;ENSP00000442856:H91N	ENSP00000317334:H113N	H	-	1	0	TCP1	160126962	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.397000	0.97276	2.720000	0.93068	0.655000	0.94253	CAT		0.353	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		T	160206972	G	T	160206972	3	4	349	1	0	0	0	0	1	0	0	0	15709	1290	45	3	1369	3	TCP1	6	160206972	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	116088943	160206972	10908095	20	18947											
SDK1	221935	genome.wustl.edu	37	7	4277414	4277414	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr7:4277414C>A	ENST00000404826.2	+	42	6267	c.6128C>A	c.(6127-6129)aCa>aAa	p.T2043K	SDK1_ENST00000389531.3_Missense_Mutation_p.T2023K|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2043					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AACTGCAGCACAGGTGCAGGT	0.577																																																0			7											124	116	118					7																	4277414		2203	4300	6503	4243940	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6128C>A	7.37:g.4277414C>A	ENSP00000385899:p.Thr2043Lys		4243940	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.862007	0.32884	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.60424	0.19;0.2	5.27	5.27	0.74061	.	0.340394	0.25839	N	0.027978	T	0.56202	0.1969	M	0.72479	2.2	0.80722	D	1	B;B;B;P	0.37914	0.409;0.383;0.015;0.611	B;B;B;B	0.35182	0.197;0.107;0.011;0.147	T	0.56335	-0.7996	10	0.23891	T	0.37	.	15.9789	0.80091	0.0:0.8655:0.1344:0.0	.	2023;103;530;2043	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	K	2043;291;2023	ENSP00000385899:T2043K;ENSP00000374182:T2023K	ENSP00000374182:T2023K	T	+	2	0	SDK1	4243940	1.000000	0.71417	0.945000	0.38365	0.815000	0.46073	4.415000	0.59809	2.457000	0.83068	0.609000	0.83330	ACA		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4277414	C	A	4277414	3	1	349	1	0	0	0	0	1	0	0	0	13971	478	17	3	6294	3	SDK1	7	4277414	Missense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09		4277414	154861249	21	18948											
PAG1	55824	genome.wustl.edu	37	8	81888951	81888951	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr8:81888951G>T	ENST00000220597.4	-	9	1837	c.1127C>A	c.(1126-1128)gCa>gAa	p.A376E	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	376					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGGCCTCCCTGCTGGTGGAAG	0.527																																																0			8											80	76	77					8																	81888951		2203	4300	6503	82051506	SO:0001583	missense	55824			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.1127C>A	8.37:g.81888951G>T	ENSP00000220597:p.Ala376Glu		82051506	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	G	7.278	0.608520	0.14002	.	.	ENSG00000076641	ENST00000220597	.	.	.	4.52	3.64	0.41730	.	0.552403	0.20377	N	0.093540	T	0.32010	0.0815	M	0.63428	1.95	0.09310	N	0.999999	P	0.48503	0.911	P	0.47705	0.555	T	0.25433	-1.0132	9	0.02654	T	1	-17.9061	4.153	0.10247	0.2653:0.1775:0.5572:0.0	.	376	Q9NWQ8	PAG1_HUMAN	E	376	.	ENSP00000220597:A376E	A	-	2	0	PAG1	82051506	0.487000	0.25988	0.036000	0.18154	0.016000	0.09150	1.810000	0.38932	1.241000	0.43820	0.655000	0.94253	GCA		0.527	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		T	81888951	G	T	81888951	3	4	349	1	0	0	0	0	1	0	0	0	11388	1319	46	3	175	3	PAG1	8	81888951	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09		81888951	64475071	22	18949											
SNTB1	6641	genome.wustl.edu	37	8	121587372	121587372	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr8:121587372C>T	ENST00000395601.3	-	5	1504	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	SNTB1_ENST00000517992.1_Missense_Mutation_p.E364K|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	364	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AACCAGGCTTCCTTCCTCCGT	0.488																																																0			8											196	176	183					8																	121587372		2203	4300	6503	121656553	SO:0001583	missense	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1090G>A	8.37:g.121587372C>T	ENSP00000378965:p.Glu364Lys		121656553	A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	36	5.707944	0.96821	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.73047	-0.71;-0.71	6.01	6.01	0.97437	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.044750	0.85682	D	0.000000	D	0.83280	0.5220	M	0.73598	2.24	0.80722	D	1	D;D	0.56521	0.976;0.971	P;P	0.62560	0.904;0.832	T	0.80004	-0.1564	10	0.34782	T	0.22	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	364;364	Q13884;Q13884-2	SNTB1_HUMAN;.	K	364	ENSP00000378965:E364K;ENSP00000431124:E364K	ENSP00000378965:E364K	E	-	1	0	SNTB1	121656553	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.103000	0.77014	2.861000	0.98227	0.650000	0.86243	GAA		0.488	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		T	121587372	C	T	121587372	3	4	349	1	0	0	0	0	1	0	0	0	14875	864	30	2	542	2	SNTB1	8	121587372	Missense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09	39698421	121587372	24776650	23	18950											
SQLE	6713	genome.wustl.edu	37	8	126034143	126034143	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr8:126034143A>G	ENST00000265896.5	+	11	2579	c.1681A>G	c.(1681-1683)Ata>Gta	p.I561V	SQLE_ENST00000523430.1_Missense_Mutation_p.I466V	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	561					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GTGTTCTGTAATATTTCCTCT	0.363																																																0			8											113	100	104					8																	126034143		1841	4080	5921	126103325	SO:0001583	missense	6713			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1681A>G	8.37:g.126034143A>G	ENSP00000265896:p.Ile561Val		126103325	Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.371387	0.24771	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193	.	.	.	5.6	-4.54	0.03452	.	0.245292	0.53938	D	0.000046	T	0.37812	0.1017	M	0.74258	2.255	0.28880	N	0.894457	B	0.33345	0.409	B	0.29353	0.101	T	0.34775	-0.9815	9	0.54805	T	0.06	-4.9967	8.0702	0.30685	0.3067:0.2026:0.0:0.4907	.	561	Q14534	ERG1_HUMAN	V	466;561;366	.	ENSP00000265896:I561V	I	+	1	0	SQLE	126103325	0.401000	0.25303	0.044000	0.18714	0.165000	0.22458	0.771000	0.26633	-0.480000	0.06803	-0.468000	0.05107	ATA		0.363	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		G	126034143	A	G	126034143	3	3	349	1	0	0	0	0	1	0	0	0	15130	101	4	4	1622	4	SQLE	8	126034143	Missense_Mutation	SNP	A	TCGA-29-1776-01A-01W-0639-09	4446771	126034143	20329879	24	18951											
GBA2	57704	genome.wustl.edu	37	9	35741853	35741853	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:35741853A>G	ENST00000378103.3	-	4	1125	c.602T>C	c.(601-603)gTg>gCg	p.V201A	GBA2_ENST00000545786.1_Missense_Mutation_p.V207A|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Missense_Mutation_p.V201A	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	201					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCTGGTACACAGTCTGCCC	0.582																																																0			9											79	69	73					9																	35741853		2203	4300	6503	35731853	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.602T>C	9.37:g.35741853A>G	ENSP00000367343:p.Val201Ala		35731853	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724899	0.48833	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.68	5.68	0.88126	Beta-glucosidase, GBA2 type, N-terminal (1);	0.136556	0.50627	D	0.000107	T	0.45397	0.1340	L	0.38175	1.15	0.44694	D	0.997682	B;B;B	0.33940	0.011;0.433;0.013	B;B;B	0.33890	0.035;0.172;0.059	T	0.38067	-0.9678	9	0.20519	T	0.43	-6.3572	11.0434	0.47844	0.928:0.0:0.072:0.0	.	207;201;201	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	A	201;201;207	.	ENSP00000367334:V201A	V	-	2	0	GBA2	35731853	1.000000	0.71417	0.059000	0.19551	0.942000	0.58702	6.291000	0.72719	2.163000	0.67991	0.460000	0.39030	GTG		0.582	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		G	35741853	A	G	35741853	3	3	349	1	0	0	0	0	1	0	0	0	6267	159	6	4	2237	4	GBA2	9	35741853	Missense_Mutation	SNP	A	TCGA-29-1776-01A-01W-0639-09		35741853	105471578	25	18952											
ZNF462	58499	genome.wustl.edu	37	9	109692888	109692888	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:109692888A>G	ENST00000277225.5	+	4	6219	c.5930A>G	c.(5929-5931)cAc>cGc	p.H1977R	ZNF462_ENST00000457913.1_Missense_Mutation_p.H1977R|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.H822R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1977					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTGGAAGTGCACCCAACGCTC	0.498																																																0			9											176	151	160					9																	109692888		2203	4300	6503	108732709	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5930A>G	9.37:g.109692888A>G	ENSP00000277225:p.His1977Arg		108732709	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.306961	0.60305	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05580	3.42;3.71;3.72;3.89	5.5	5.5	0.81552	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.32530	0.975	0.80722	D	1	P;D	0.71674	0.804;0.998	B;D	0.76071	0.408;0.987	T	0.01249	-1.1406	10	0.52906	T	0.07	.	15.6084	0.76692	1.0:0.0:0.0:0.0	.	1977;1977	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	R	1977;1977;860;822	ENSP00000277225:H1977R;ENSP00000414570:H1977R;ENSP00000363818:H860R;ENSP00000397306:H822R	ENSP00000277225:H1977R	H	+	2	0	ZNF462	108732709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.893000	0.92498	2.099000	0.63709	0.533000	0.62120	CAC		0.498	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		G	109692888	A	G	109692888	3	3	349	1	0	0	0	0	1	0	0	0	17926	159	6	4	5940	4	ZNF462	9	109692888	Missense_Mutation	SNP	A	TCGA-29-1776-01A-01W-0639-09	73951035	109692888	31520543	26	18953											
DBC1	1620	genome.wustl.edu	37	9	121929582	121929582	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:121929582G>C	ENST00000265922.3	-	8	2527	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	689					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CACTGACGAAGAGGAATAGAA	0.577																																																0			9											137	132	133					9																	121929582		2203	4300	6503	120969403	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2066C>G	9.37:g.121929582G>C	ENSP00000265922:p.Ser689Cys		120969403	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262321	0.39995	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.15603	2.41	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	L	0.36672	1.1	0.80722	D	1	B	0.21225	0.053	B	0.20184	0.028	T	0.02625	-1.1132	10	0.72032	D	0.01	-13.6676	20.2921	0.98543	0.0:0.0:1.0:0.0	.	689	O60477	DBC1_HUMAN	C	689	ENSP00000265922:S689C	ENSP00000265922:S689C	S	-	2	0	DBC1	120969403	1.000000	0.71417	0.627000	0.29227	0.406000	0.30931	5.394000	0.66285	2.879000	0.98667	0.650000	0.86243	TCT		0.577	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		C	121929582	G	C	121929582	3	2	349	1	0	0	0	0	1	0	0	0	4247	942	33	3	223	3	DBC1	9	121929582	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	12236694	121929582	19283849	27	18954											
DBC1	1620	genome.wustl.edu	37	9	122001026	122001026	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:122001026G>A	ENST00000265922.3	-	5	1053	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	BRINP1_ENST00000373964.2_Missense_Mutation_p.R198C	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	198	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGCCCAGTGCGTGTCTCTGTG	0.507																																																0			9											104	77	86					9																	122001026		2203	4300	6503	121040847	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.592C>T	9.37:g.122001026G>A	ENSP00000265922:p.Arg198Cys		121040847	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665673	0.88251	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.56275	2.12;0.47	5.91	5.91	0.95273	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.72833	-0.4173	10	0.87932	D	0	-21.6133	19.2777	0.94039	0.0:0.0:1.0:0.0	.	198;198	O60477-2;O60477	.;DBC1_HUMAN	C	198	ENSP00000265922:R198C;ENSP00000363075:R198C	ENSP00000265922:R198C	R	-	1	0	DBC1	121040847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.297000	0.72757	2.794000	0.96219	0.655000	0.94253	CGC		0.507	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		A	122001026	G	A	122001026	3	1	349	1	0	0	0	0	1	0	0	0	4247	1145	40	1	1709	1	DBC1	9	122001026	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	71444	122001026	19212405	28	18955											
USP20	10868	genome.wustl.edu	37	9	132632062	132632062	+	Missense_Mutation	SNP	G	G	A	rs193265694	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr9:132632062G>A	ENST00000315480.4	+	14	1662	c.1504G>A	c.(1504-1506)Gcc>Acc	p.A502T	USP20_ENST00000372429.3_Missense_Mutation_p.A502T|USP20_ENST00000358355.1_Missense_Mutation_p.A502T			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	502	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAAGCCAGGCGCCTGTGGGGA	0.612													G|||	13	0.00259585	0.0083	0.0029	5008	,	,		18607	0		0	False		,,,				2504	0															0			9						G	THR/ALA,THR/ALA,THR/ALA	17,3819		0,17,1901	63	66	65		1504,1504,1504	-4.5	0	9		65	0,8210		0,0,4105	yes	missense,missense,missense	USP20	NM_001008563.3,NM_001110303.2,NM_006676.6	58,58,58	0,17,6006	AA,AG,GG		0.0,0.4432,0.1411	benign,benign,benign	502/915,502/915,502/915	132632062	17,12029	1918	4105	6023	131671883	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1504G>A	9.37:g.132632062G>A	ENSP00000313811:p.Ala502Thr		131671883	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	CCDS43892.1	4	0.0018315018315018315	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	1.614	-0.523273	0.04141	0.004432	0.0	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.17854	2.25;2.25;2.25	4.84	-4.49	0.03504	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.659654	0.16515	N	0.211082	T	0.02267	0.0070	N	0.01134	-0.995	0.24412	N	0.994653	B	0.02656	0.0	B	0.04013	0.001	T	0.37842	-0.9688	10	0.15066	T	0.55	.	5.1601	0.15056	0.4651:0.0:0.3123:0.2227	.	502	Q9Y2K6	UBP20_HUMAN	T	502	ENSP00000361506:A502T;ENSP00000313811:A502T;ENSP00000351122:A502T	ENSP00000313811:A502T	A	+	1	0	USP20	131671883	0.001000	0.12720	0.006000	0.13384	0.197000	0.23852	-0.117000	0.10708	-0.900000	0.03896	-1.804000	0.00617	GCC		0.612	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			A	132632062	G	A	132632062	3	1	349	1	0	0	0	0	1	0	0	0	17052	1087	38	1	1550	1	USP20	9	132632062	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	10631036	132632062	8581369	29	18956											
MYO3A	53904	genome.wustl.edu	37	10	26463226	26463226	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr10:26463226G>A	ENST00000265944.5	+	30	4199	c.4033G>A	c.(4033-4035)Gaa>Aaa	p.E1345K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1345					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGCCCAGGAGGAAGAAGATAA	0.512																																																0			10											126	127	127					10																	26463226		2203	4300	6503	26503232	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4033G>A	10.37:g.26463226G>A	ENSP00000265944:p.Glu1345Lys		26503232	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490761	0.84962	.	.	ENSG00000095777	ENST00000265944	T	0.78816	-1.21	5.63	5.63	0.86233	.	0.090575	0.85682	N	0.000000	T	0.59487	0.2197	N	0.08118	0	0.80722	D	1	P	0.43094	0.799	B	0.38378	0.272	T	0.62058	-0.6934	10	0.08381	T	0.77	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	1345	Q8NEV4	MYO3A_HUMAN	K	1345	ENSP00000265944:E1345K	ENSP00000265944:E1345K	E	+	1	0	MYO3A	26503232	1.000000	0.71417	0.176000	0.23000	0.588000	0.36517	6.708000	0.74660	2.650000	0.89964	0.563000	0.77884	GAA		0.512	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26463226	G	A	26463226	3	1	349	1	0	0	0	0	1	0	0	0	10076	1175	41	2	4143	2	MYO3A	10	26463226	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09		26463226	109071521	30	18957											
NAV2	89797	genome.wustl.edu	37	11	19970311	19970311	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr11:19970311G>A	ENST00000396087.3	+	11	2498	c.2399G>A	c.(2398-2400)aGg>aAg	p.R800K	NAV2_ENST00000540292.1_Missense_Mutation_p.R731K|NAV2_ENST00000360655.4_Missense_Mutation_p.R713K|NAV2_ENST00000527559.2_Missense_Mutation_p.R729K|NAV2_ENST00000349880.4_Missense_Mutation_p.R777K|NAV2_ENST00000396085.1_Missense_Mutation_p.R777K	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	800					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTGACAGGGAGGCCCACACCT	0.572																																																0			11											72	62	65					11																	19970311		2199	4293	6492	19926887	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2399G>A	11.37:g.19970311G>A	ENSP00000379396:p.Arg800Lys		19926887	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108335	0.94292	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000004	T	0.37972	0.1023	M	0.70595	2.14	0.80722	D	1	D;P	0.76494	0.999;0.829	D;B	0.74348	0.983;0.225	T	0.07578	-1.0765	9	.	.	.	.	18.6645	0.91485	0.0:0.0:1.0:0.0	.	777;713	Q8IVL1-3;Q8IVL1-4	.;.	K	713;777;777;800;729;731	ENSP00000353871:R713K;ENSP00000379394:R777K;ENSP00000309577:R777K;ENSP00000379396:R800K;ENSP00000435395:R729K;ENSP00000443489:R731K	.	R	+	2	0	NAV2	19926887	1.000000	0.71417	0.962000	0.40283	0.828000	0.46876	7.817000	0.86213	2.474000	0.83562	0.563000	0.77884	AGG		0.572	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	19970311	G	A	19970311	3	1	349	1	0	0	0	0	1	0	0	0	10184	1000	35	2	2447	2	NAV2	11	19970311	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09		19970311	115036205	31	18958											
QSER1	79832	genome.wustl.edu	37	11	32955947	32955950	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	CTTC	CTTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr11:32955947_32955950delCTTC	ENST00000399302.2	+	4	3091_3094	c.2756_2759delCTTC	c.(2755-2760)acttccfs	p.TS919fs	QSER1_ENST00000527788.1_Frame_Shift_Del_p.TS680fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	919										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)					ATAAATGATACTTCCTTAAATGGA	0.377																																																0			11																																								32912526	SO:0001589	frameshift_variant	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.2756_2759delCTTC	11.37:g.32955947_32955950delCTTC	ENSP00000382241:p.Thr919fs		32912523	Q6ZU30|Q6ZUR5	Frame_Shift_Del	DEL	ENST00000399302.2	37	CCDS41631.1																																																																																				0.377	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		-	32955950	CTTC	-	32955947	7	5	349	1	0	1	0	1	0	0	0	0	12885	565	20	0	2762	0	QSER1	11	32955947	Frame_Shift_Del	DEL	CTTC	TCGA-29-1776-01A-01W-0639-09	12985636	32955947	102050569	32	18959											
MON2	23041	genome.wustl.edu	37	12	62954657	62954657	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr12:62954657T>G	ENST00000393632.2	+	26	4187	c.3796T>G	c.(3796-3798)Ttt>Gtt	p.F1266V	MON2_ENST00000552738.1_Missense_Mutation_p.F1243V|MON2_ENST00000393630.3_Missense_Mutation_p.F1267V|MON2_ENST00000280379.6_Missense_Mutation_p.F1267V|MON2_ENST00000546600.1_Missense_Mutation_p.F1266V|MON2_ENST00000393629.2_Missense_Mutation_p.F1266V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1266					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAAACTAACTTTTATTCCTAG	0.363																																																0			12											107	105	106					12																	62954657		2203	4300	6503	61240924	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3796T>G	12.37:g.62954657T>G	ENSP00000377252:p.Phe1266Val		61240924	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610812	0.46527	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.54479	0.58;0.58;0.58;0.58;0.57;0.58	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.45581	1.43	0.80722	D	1	B;B;B;B;B	0.26363	0.041;0.068;0.068;0.147;0.115	B;B;B;B;B	0.30943	0.039;0.122;0.039;0.028;0.122	T	0.40776	-0.9545	9	.	.	.	-13.7356	15.0609	0.71951	0.0:0.0:0.0:1.0	.	1266;1243;1266;141;1266	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	V	1266;1267;1267;1266;1243;1266	ENSP00000377252:F1266V;ENSP00000377250:F1267V;ENSP00000280379:F1267V;ENSP00000447407:F1266V;ENSP00000449215:F1243V;ENSP00000377249:F1266V	.	F	+	1	0	MON2	61240924	1.000000	0.71417	0.935000	0.37517	0.759000	0.43091	7.787000	0.85759	2.031000	0.59945	0.377000	0.23210	TTT		0.363	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		G	62954657	T	G	62954657	3	3	349	1	0	0	0	0	1	0	0	0	9700	1841	64	5	3898	5	MON2	12	62954657	Missense_Mutation	SNP	T	TCGA-29-1776-01A-01W-0639-09		62954657	70897238	33	18960											
ANKS1B	56899	genome.wustl.edu	37	12	99640163	99640163	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr12:99640163G>T	ENST00000547776.2	-	13	2235	c.2236C>A	c.(2236-2238)Cct>Act	p.P746T	ANKS1B_ENST00000547010.1_Missense_Mutation_p.P326T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P746T|ANKS1B_ENST00000550833.1_5'Flank	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	746						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCATTGGAAGGATAGGCAATG	0.413																																																0			12											97	92	94					12																	99640163		1919	4104	6023	98164294	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2236C>A	12.37:g.99640163G>T	ENSP00000449629:p.Pro746Thr		98164294	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242116	0.39598	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.64618	0.7;-0.11;0.71	5.21	5.21	0.72293	.	0.067276	0.64402	D	0.000009	T	0.68952	0.3057	L	0.46157	1.445	0.80722	D	1	D;P	0.55385	0.971;0.689	P;B	0.56127	0.792;0.223	T	0.66712	-0.5854	9	.	.	.	-8.2951	17.2978	0.87173	0.0:0.0:1.0:0.0	.	326;746	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	T	746;326;746;325	ENSP00000449629:P746T;ENSP00000448512:P326T;ENSP00000331381:P746T	.	P	-	1	0	ANKS1B	98164294	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.538000	0.67193	2.586000	0.87340	0.462000	0.41574	CCT		0.413	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		T	99640163	G	T	99640163	3	4	349	1	0	0	0	0	1	0	0	0	689	1174	41	3	1854	3	ANKS1B	12	99640163	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	36685506	99640163	34211732	34	18961											
AKAP6	9472	genome.wustl.edu	37	14	33014915	33014939	+	Frame_Shift_Del	DEL	CCATCATGATGCAAAGAATCAGCAG	CCATCATGATGCAAAGAATCAGCAG	-	rs139999446		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	CCATCATGATGCAAAGAATCAGCAG	CCATCATGATGCAAAGAATCAGCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr14:33014915_33014939delCCATCATGATGCAAAGAATCAGCAG	ENST00000280979.4	+	4	1226_1250	c.1056_1080delCCATCATGATGCAAAGAATCAGCAG	c.(1054-1080)tcccatcatgatgcaaagaatcagcagfs	p.SHHDAKNQQ352fs	AKAP6_ENST00000557272.1_Frame_Shift_Del_p.SHHDAKNQQ352fs|AKAP6_ENST00000557354.1_Frame_Shift_Del_p.SHHDAKNQQ352fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	352					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTTCCTCCTCCCATCATGATGCAAAGAATCAGCAGCCTGTTCCTT	0.484																																					Melanoma(49;821 1200 7288 13647 42351)											0			14																																								32084690	SO:0001589	frameshift_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1056_1080delCCATCATGATGCAAAGAATCAGCAG	14.37:g.33014915_33014939delCCATCATGATGCAAAGAATCAGCAG	ENSP00000280979:p.Ser352fs		32084666	A7E242|A7E2D4|O15028	Frame_Shift_Del	DEL	ENST00000280979.4	37	CCDS9644.1																																																																																				0.484	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		-	33014939	CCATCATGATGCAAAGAATCAGCAG	-	33014915	7	5	349	1	0	1	0	1	0	0	0	0	455	610	22	0	1066	0	AKAP6	14	33014915	Frame_Shift_Del	DEL	CCATCATGATGCAAAGAATCAGCAG	TCGA-29-1776-01A-01W-0639-09		33014915	74334625	35	18962											
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	349	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09		7578406	73616804	36	18963											
C17orf42	79736	genome.wustl.edu	37	17	29231087	29231087	+	Silent	SNP	A	A	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:29231087A>C	ENST00000581216.1	-	2	1113	c.492T>G	c.(490-492)ctT>ctG	p.L164L	TEFM_ENST00000580840.1_Silent_p.L164L	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	164					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										AATATACCTTAAGTCTTTCTC	0.433																																																0			17											52	49	50					17																	29231087		1821	4076	5897	26255213	SO:0001819	synonymous_variant	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.492T>G	17.37:g.29231087A>C			26255213	E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	ENST00000581216.1	37	CCDS42291.1																																																																																				0.433	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683		C	29231087	A	C	29231087	2	2	349	1	0	0	0	0	0	0	0	1	1856	349	13	5		5	C17orf42	17	29231087	Silent	SNP	A	TCGA-29-1776-01A-01W-0639-09	21652681	29231087	51964123	37	18964											
NF1	4763	genome.wustl.edu	37	17	29550506	29550523	+	In_Frame_Del	DEL	AAATGCTTAGTAGCACAG	AAATGCTTAGTAGCACAG	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	AAATGCTTAGTAGCACAG	AAATGCTTAGTAGCACAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:29550506_29550523delAAATGCTTAGTAGCACAG	ENST00000358273.4	+	16	2149_2166	c.1766_1783delAAATGCTTAGTAGCACAG	c.(1765-1785)caaatgcttagtagcacagaa>caa	p.MLSSTE590del	NF1_ENST00000356175.3_In_Frame_Del_p.MLSSTE590del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	590					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTAGTCATCAAATGCTTAGTAGCACAGAAATTCTCAA	0.303			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CD072447	NF1	D																																				26574649	SO:0001651	inframe_deletion	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1766_1783delAAATGCTTAGTAGCACAG	17.37:g.29550506_29550523delAAATGCTTAGTAGCACAG	ENSP00000351015:p.Met590_Glu595del		26574632	O00662|Q14284|Q14930|Q14931|Q9UMK3	In_Frame_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.303	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29550523	AAATGCTTAGTAGCACAG	-	29550506	7	5	349	1	0	1	0	1	0	0	0	0	10356	130	5	0	1889	0	NF1	17	29550506	In_Frame_Del	DEL	AAATGCTTAGTAGCACAG	TCGA-29-1776-01A-01W-0639-09	319419	29550506	51644704	38	18965											
NF1	4763	genome.wustl.edu	37	17	29550571	29550572	+	Frame_Shift_Ins	INS	-	-	TTCTTAAATA	rs201064978		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:29550571_29550572insTTCTTAAATA	ENST00000358273.4	+	16	2214_2215	c.1831_1832insTTCTTAAATA	c.(1831-1833)cttfs	p.-611fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.-611fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L611fs*3(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAATAAATTTCTTCTTAAAAAT	0.302			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Complex - frameshift(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CD076844	NF1	D																																				26574698	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	Exception_encountered	17.37:g.29550571_29550572insTTCTTAAATA	ENSP00000351015:p.Leu611fs		26574697	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	CCDS42292.1																																																																																				0.302	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		TTCTTAAATA	29550572	-	TTCTTAAATA	29550571	7	5	349	1	0	1	1	0	0	0	0	0	10356	913	32	0	1954	0	NF1	17	29550571	Frame_Shift_Ins	INS	-	TCGA-29-1776-01A-01W-0639-09	65	29550571	51644639	39	18966											
BRCA1	672	genome.wustl.edu	37	17	41243985	41243986	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	CT	CT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:41243985_41243986delCT	ENST00000357654.3	-	10	3680_3681	c.3562_3563delAG	c.(3562-3564)aggfs	p.R1188fs	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.R1141fs|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.R1188fs|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.R1188fs|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.R1188fs|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.R892fs|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1188					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTAGGACTCCTGCTAAGCTCT	0.421			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17																																								38497512	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3562_3563delAG	17.37:g.41243985_41243986delCT	ENSP00000350283:p.Arg1188fs		38497511	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	ENST00000357654.3	37	CCDS11453.1																																																																																				0.421	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		-	41243986	CT	-	41243985	7	5	349	1	0	1	0	1	0	0	0	0	1498	681	24	0	2154	0	BRCA1	17	41243985	Frame_Shift_Del	DEL	CT	TCGA-29-1776-01A-01W-0639-09	11693414	41243985	39951225	40	18967											
USP32	84669	genome.wustl.edu	37	17	58284466	58284466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:58284466G>A	ENST00000300896.4	-	25	3147	c.2953C>T	c.(2953-2955)Cga>Tga	p.R985*	USP32_ENST00000592339.1_Nonsense_Mutation_p.R655*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	985	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTGAGAGTCGTACTTTTTGG	0.398																																																0			17											48	46	47					17																	58284466		2203	4298	6501	55639248	SO:0001587	stop_gained	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2953C>T	17.37:g.58284466G>A	ENSP00000300896:p.Arg985*		55639248	Q7Z5T3|Q9BX85|Q9Y591	Nonsense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	44	10.904070	0.99486	.	.	ENSG00000170832	ENST00000300896	.	.	.	5.79	5.79	0.91817	.	0.113453	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	.	.	.	X	985	.	ENSP00000300896:R985X	R	-	1	2	USP32	55639248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.537000	0.73847	2.736000	0.93811	0.655000	0.94253	CGA		0.398	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		A	58284466	G	A	58284466	4	1	349	1	0	0	0	0	0	1	0	0	17063	1153	40	1	1901	1	USP32	17	58284466	Nonsense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	17040481	58284466	22910744	41	18968											
ITGB4	3691	genome.wustl.edu	37	17	73732396	73732396	+	Missense_Mutation	SNP	G	G	C	rs377678641		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:73732396G>C	ENST00000200181.3	+	15	1976	c.1789G>C	c.(1789-1791)Gag>Cag	p.E597Q	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.E597Q|ITGB4_ENST00000579662.1_Missense_Mutation_p.E597Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.E597Q|ITGB4_ENST00000450894.3_Missense_Mutation_p.E597Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	597	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCCACTGTGAGTGTGGCCG	0.632																																																0			17											58	62	60					17																	73732396		2203	4300	6503	71243991	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1789G>C	17.37:g.73732396G>C	ENSP00000200181:p.Glu597Gln		71243991	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952931	0.34471	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92595	-3.07;-3.07;-3.07	4.6	4.6	0.57074	.	0.327838	0.27654	N	0.018420	D	0.91730	0.7385	L	0.49350	1.555	0.26674	N	0.97168	D;P;P;P;P	0.54601	0.967;0.856;0.935;0.893;0.893	P;P;P;P;P	0.52627	0.632;0.501;0.704;0.51;0.51	D	0.86023	0.1508	10	0.40728	T	0.16	.	12.0975	0.53763	0.0875:0.0:0.9125:0.0	.	557;597;597;597;597	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	Q	513;597;597;597	ENSP00000200181:E597Q;ENSP00000344079:E597Q;ENSP00000400217:E597Q	ENSP00000200181:E597Q	E	+	1	0	ITGB4	71243991	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.550000	0.45811	2.095000	0.63458	0.558000	0.71614	GAG		0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			C	73732396	G	C	73732396	3	2	349	1	0	0	0	0	1	0	0	0	7897	1291	45	3	1843	3	ITGB4	17	73732396	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09	15447930	73732396	7462814	42	18969											
QRICH2	84074	genome.wustl.edu	37	17	74278122	74278122	+	Silent	SNP	C	C	T	rs74425099	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:74278122C>T	ENST00000262765.5	-	8	3767	c.3588G>A	c.(3586-3588)ccG>ccA	p.P1196P		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1196										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGGCCTTGTGCGGGGCCATGC	0.632													C|||	15	0.00299521	0.0113	0	5008	,	,		22325	0		0	False		,,,				2504	0															0			17						C		63,4343	59.9+/-96.7	2,59,2142	81	73	76		3588	-11.1	0	17	dbSNP_132	76	0,8600		0,0,4300	no	coding-synonymous	QRICH2	NM_032134.1		2,59,6442	TT,TC,CC		0.0,1.4299,0.4844		1196/1664	74278122	63,12943	2203	4300	6503	71789717	SO:0001819	synonymous_variant	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3588G>A	17.37:g.74278122C>T			71789717	A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	CCDS32741.1																																																																																				0.632	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		T	74278122	C	T	74278122	2	4	349	1	0	0	0	0	0	0	0	1	12883	755	27	1		1	QRICH2	17	74278122	Silent	SNP	C	TCGA-29-1776-01A-01W-0639-09	545726	74278122	6917088	43	18970											
ASPSCR1	79058	genome.wustl.edu	37	17	79974680	79974680	+	Silent	SNP	C	C	G	rs112403819	byFrequency	TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr17:79974680C>G	ENST00000306739.4	+	14	1507	c.1410C>G	c.(1408-1410)gtC>gtG	p.V470V	STRA13_ENST00000583767.1_5'Flank|ASPSCR1_ENST00000580534.1_Silent_p.V418V|ASPSCR1_ENST00000306729.7_Silent_p.V564V|ASPSCR1_ENST00000582404.1_3'UTR	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	470					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCAGGTGTCTACCTGGAGC	0.672			T	TFE3	alveolar soft part sarcoma								C|||	25	0.00499201	0.0182	0.0014	5008	,	,		14869	0		0	False		,,,				2504	0						Dom	yes		17	17q25	79058	"alveolar soft part sarcoma chromosome region, candidate 1"		M	0			17						C		106,4292	80.9+/-119.3	5,96,2098	43	42	42		1410	3.9	0.9	17	dbSNP_132	42	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ASPSCR1	NM_024083.2		5,97,6395	GG,GC,CC		0.0116,2.4102,0.8235		470/554	79974680	107,12887	2199	4298	6497	77567969	SO:0001819	synonymous_variant	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1410C>G	17.37:g.79974680C>G			77567969	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	CCDS11796.1																																																																																				0.672	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		G	79974680	C	G	79974680	2	3	349	1	0	0	0	0	0	0	0	1	1059	900	32	3		3	ASPSCR1	17	79974680	Silent	SNP	C	TCGA-29-1776-01A-01W-0639-09	5696558	79974680	1220530	44	18971											
CLUL1	27098	genome.wustl.edu	37	18	633426	633429	+	Frame_Shift_Del	DEL	CTAT	CTAT	-	rs369365168		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	CTAT	CTAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr18:633426_633429delCTAT	ENST00000400606.2	+	6	1130_1133	c.985_988delCTAT	c.(985-990)ctatctfs	p.LS329fs	CLUL1_ENST00000338387.7_Frame_Shift_Del_p.LS329fs|CLUL1_ENST00000540035.1_Frame_Shift_Del_p.LS381fs|CLUL1_ENST00000579494.1_Frame_Shift_Del_p.LS329fs|CLUL1_ENST00000581619.1_Frame_Shift_Del_p.LS354fs	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	329					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TCAGGCTCACCTATCTGAAGGTAA	0.363																																																0			18																																								623429	SO:0001589	frameshift_variant	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.985_988delCTAT	18.37:g.633426_633429delCTAT	ENSP00000383449:p.Leu329fs		623426	A0FDN7	Frame_Shift_Del	DEL	ENST00000400606.2	37	CCDS42405.1																																																																																				0.363	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			-	633429	CTAT	-	633426	7	5	349	1	0	1	0	1	0	0	0	0	3570	680	24	0	1003	0	CLUL1	18	633426	Frame_Shift_Del	DEL	CTAT	TCGA-29-1776-01A-01W-0639-09		633426	77443822	45	18972	27	2									
CLUL1	27098	genome.wustl.edu	37	18	633434	633441	+	Splice_Site	DEL	AGGTAAAT	AGGTAAAT	-	rs373181420		TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	AGGTAAAT	AGGTAAAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr18:633434_633441delAGGTAAAT	ENST00000400606.2	+	6	1138_1139	c.993_994delAGGTAAAT	c.(991-996)gaaggt>gagt	p.G332fs	CLUL1_ENST00000338387.7_Splice_Site_p.G332fs|CLUL1_ENST00000540035.1_Splice_Site_p.G384fs|CLUL1_ENST00000579494.1_Splice_Site_p.G332fs|CLUL1_ENST00000581619.1_Splice_Site_p.G357fs	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	332					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ACCTATCTGAAGGTAAATAATTGCTATT	0.346																																																0			18																																								623441	SO:0001630	splice_region_variant	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.994+1AGGTAAAT>-	18.37:g.633434_633441delAGGTAAAT			623434	A0FDN7	Frame_Shift_Del	DEL	ENST00000400606.2	37	CCDS42405.1																																																																																				0.346	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1		Frame_Shift_Del	-	633441	AGGTAAAT	-	633434	8	5	349	1	0	1	0	1	0	0	1	0	3570	86	3	0	1011	0	CLUL1	18	633434	Splice_Site	DEL	AGGTAAAT	TCGA-29-1776-01A-01W-0639-09	8	633434	77443814	46	18973	27	2									
FCGBP	8857	genome.wustl.edu	37	19	40398366	40398366	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr19:40398366C>A	ENST00000221347.6	-	14	6608	c.6601G>T	c.(6601-6603)Gcg>Tcg	p.A2201S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2201	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGTACGCCGCCGGCACGCGC	0.692																																																0			19											38	46	44					19																	40398366		2037	3838	5875	45090206	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6601G>T	19.37:g.40398366C>A	ENSP00000221347:p.Ala2201Ser		45090206	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	3.004	-0.205477	0.06180	.	.	ENSG00000090920	ENST00000221347	T	0.58060	0.36	2.17	1.08	0.20341	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.19406	0.0466	N	0.03238	-0.38	0.19300	N	0.999971	B	0.14012	0.009	B	0.12837	0.008	T	0.29610	-1.0006	9	0.02654	T	1	.	1.988	0.03440	0.2781:0.4475:0.0:0.2744	.	2201	Q9Y6R7	FCGBP_HUMAN	S	2201	ENSP00000221347:A2201S	ENSP00000221347:A2201S	A	-	1	0	FCGBP	45090206	0.010000	0.17322	0.824000	0.32777	0.796000	0.44982	0.846000	0.27682	0.459000	0.27016	0.479000	0.44913	GCG		0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40398366	C	A	40398366	3	1	349	1	0	0	0	0	1	0	0	0	5778	739	26	3	9708	3	FCGBP	19	40398366	Missense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09		40398366	18730617	47	18974											
ZNF343	79175	genome.wustl.edu	37	20	2464454	2464454	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr20:2464454C>G	ENST00000278772.4	-	6	1640	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CGTCCACACTCCAGGCACACA	0.527																																																0			20											85	80	82					20																	2464454		2203	4300	6503	2412454	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1153G>C	20.37:g.2464454C>G	ENSP00000278772:p.Glu385Gln		2412454	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433623	0.25813	.	.	ENSG00000088876	ENST00000278772	T	0.39229	1.09	2.85	0.653	0.17828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32071	0.0817	N	0.15975	0.35	0.09310	N	1	P	0.35600	0.511	P	0.44561	0.453	T	0.34551	-0.9824	9	0.39692	T	0.17	.	10.0166	0.42018	0.0:0.6133:0.3866:0.0	.	385	Q6P1L6	ZN343_HUMAN	Q	385	ENSP00000278772:E385Q	ENSP00000278772:E385Q	E	-	1	0	ZNF343	2412454	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.260000	0.08708	0.062000	0.16340	0.591000	0.81541	GAG		0.527	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		G	2464454	C	G	2464454	3	3	349	1	0	0	0	0	1	0	0	0	17858	864	30	3	650	3	ZNF343	20	2464454	Missense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09		2464454	60561066	48	18975											
STX16	8675	genome.wustl.edu	37	20	57246351	57246351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr20:57246351C>T	ENST00000371141.4	+	7	1514	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	STX16_ENST00000361770.5_Nonsense_Mutation_p.Q247*|STX16_ENST00000371132.4_Nonsense_Mutation_p.Q243*|STX16_ENST00000358029.4_Nonsense_Mutation_p.Q260*|STX16_ENST00000355957.5_Nonsense_Mutation_p.Q247*|STX16_ENST00000496003.1_Intron|STX16_ENST00000361830.3_Nonsense_Mutation_p.Q264*|STX16_ENST00000359617.4_Nonsense_Mutation_p.Q211*|STX16-NPEPL1_ENST00000530122.1_Nonsense_Mutation_p.Q264*	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	264	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GATTGTAGAACAGGTACGTGA	0.453																																																0			20											143	133	136					20																	57246351		2203	4300	6503	56679757	SO:0001587	stop_gained	8675			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.790C>T	20.37:g.57246351C>T	ENSP00000360183:p.Gln264*		56679757	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Nonsense_Mutation	SNP	ENST00000371141.4	37	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	C	43	9.827912	0.99273	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000435446	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0121	0.92877	0.0:1.0:0.0:0.0	.	.	.	.	X	247;247;211;264;211;243;260;264;78	.	ENSP00000360180:Q211X	Q	+	1	0	STX16	56679757	1.000000	0.71417	0.982000	0.44146	0.898000	0.52572	7.484000	0.81180	2.727000	0.93392	0.644000	0.83932	CAG		0.453	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		T	57246351	C	T	57246351	4	4	349	1	0	0	0	0	0	1	0	0	15341	479	17	2	816	2	STX16	20	57246351	Nonsense_Mutation	SNP	C	TCGA-29-1776-01A-01W-0639-09	54781897	57246351	5779169	49	18976											
GNAS	2778	genome.wustl.edu	37	20	57430054	57430054	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr20:57430054A>G	ENST00000306120.3	+	1	1544	c.1544A>G	c.(1543-1545)gAg>gGg	p.E515G	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Silent_p.G578G|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.G578G|GNAS_ENST00000371100.4_Silent_p.G578G|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACTCCAGCGGAGACGAGTCCG	0.662			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0			20											14	19	17					20																	57430054		2131	4225	6356	56863449	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.1544A>G	20.37:g.57430054A>G	ENSP00000302237:p.Glu515Gly		56863449	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000306120.3	37		.	.	.	.	.	.	.	.	.	.	A	14.56	2.572917	0.45798	.	.	ENSG00000087460	ENST00000306120	.	.	.	4.37	-2.87	0.05700	.	.	.	.	.	T	0.21062	0.0507	.	.	.	0.19775	N	0.999953	.	.	.	.	.	.	T	0.29518	-1.0009	5	0.26408	T	0.33	.	4.0099	0.09618	0.2799:0.5147:0.0941:0.1113	.	.	.	.	G	515	.	ENSP00000302237:E515G	E	+	2	0	GNAS	56863449	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	-0.623000	0.05546	-0.452000	0.07087	0.379000	0.24179	GAG		0.662	GNAS-050	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000267987.1	NM_000516		G	57430054	A	G	57430054	3	3	349	1	0	0	0	0	1	0	0	0	6510	304	11	4	2478	4	GNAS	20	57430054	Missense_Mutation	SNP	A	TCGA-29-1776-01A-01W-0639-09	183703	57430054	5595466	50	18977											
C21orf70	85395	genome.wustl.edu	37	21	46363608	46363608	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr21:46363608T>C	ENST00000291634.6	+	2	187	c.139T>C	c.(139-141)Ttc>Ctc	p.F47L	FAM207A_ENST00000397826.3_Missense_Mutation_p.F47L	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	47																	GGACTGGGCGTTCATCAACAC	0.522																																																0			21											121	104	110					21																	46363608		2203	4300	6503	45188036	SO:0001583	missense	85395				CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.139T>C	21.37:g.46363608T>C	ENSP00000291634:p.Phe47Leu		45188036		Missense_Mutation	SNP	ENST00000291634.6	37	CCDS13718.1	.	.	.	.	.	.	.	.	.	.	T	8.160	0.789222	0.16258	.	.	ENSG00000160256	ENST00000291634;ENST00000397826;ENST00000458015	T;T	0.44881	0.91;0.92	3.65	0.973	0.19710	.	0.761679	0.12704	N	0.446097	T	0.34019	0.0883	L	0.53729	1.69	0.09310	N	0.999997	B;B	0.16603	0.003;0.018	B;B	0.14578	0.003;0.011	T	0.25363	-1.0134	10	0.26408	T	0.33	-4.4499	7.8929	0.29688	0.0:0.0:0.4003:0.5997	.	47;47	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	L	47	ENSP00000291634:F47L;ENSP00000380926:F47L	ENSP00000291634:F47L	F	+	1	0	C21orf70	45188036	0.002000	0.14202	0.000000	0.03702	0.043000	0.13939	0.678000	0.25277	0.078000	0.16900	0.460000	0.39030	TTC		0.522	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		C	46363608	T	C	46363608	3	2	349	1	0	0	0	0	1	0	0	0	2133	1725	60	4	145	4	C21orf70	21	46363608	Missense_Mutation	SNP	T	TCGA-29-1776-01A-01W-0639-09		46363608	1766287	51	18978											
CECR1	51816	genome.wustl.edu	37	22	17684629	17684629	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1776-01A-01W-0639-09	TCGA-29-1776-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	58c1b2cd-7f66-46f3-b352-3b4428c6052d	f434f2ce-fcb7-46a3-95b6-b0fa37416b11	g.chr22:17684629G>A	ENST00000399839.1	-	4	847	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S	CECR1_ENST00000262607.3_Missense_Mutation_p.P193S|CECR1_ENST00000399837.2_Missense_Mutation_p.P193S|CECR1_ENST00000449907.2_Missense_Mutation_p.P151S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	193					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)			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)				ATCACCTCCGGGTGCTGGGTC	0.517																																																0			22											100	87	91					22																	17684629		2203	4300	6503	16064629	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.577C>T	22.37:g.17684629G>A	ENSP00000382733:p.Pro193Ser		16064629	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.306960	0.60305	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	3.92	3.92	0.45320	Adenosine/AMP deaminase (1);	0.000000	0.85682	U	0.000000	D	0.88314	0.6403	L	0.56396	1.775	0.50632	D	0.999885	D	0.89917	1.0	D	0.97110	1.0	D	0.87729	0.2578	10	0.40728	T	0.16	.	13.7077	0.62651	0.0:0.0:1.0:0.0	.	193	Q9NZK5	CECR1_HUMAN	S	193;193;151;193	ENSP00000382733:P193S;ENSP00000262607:P193S;ENSP00000406443:P151S;ENSP00000382731:P193S	ENSP00000262607:P193S	P	-	1	0	CECR1	16064629	1.000000	0.71417	0.702000	0.30337	0.353000	0.29299	7.832000	0.86757	1.737000	0.51674	0.650000	0.86243	CCG		0.517	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			A	17684629	G	A	17684629	3	1	349	1	0	0	0	0	1	0	0	0	3205	1232	43	2	1020	2	CECR1	22	17684629	Missense_Mutation	SNP	G	TCGA-29-1776-01A-01W-0639-09		17684629	33619937	52	18979											
TPRG1L	127262	genome.wustl.edu	37	1	3545057	3545057	+	Silent	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:3545057C>T	ENST00000378344.2	+	5	780	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	TPRG1L_ENST00000344579.5_Silent_p.L178L	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	237						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GAATGGCGTGCTGATCCTGGA	0.498																																																0			1											73	69	70					1																	3545057		2203	4300	6503	3534917	SO:0001819	synonymous_variant	127262			BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"family with sequence similarity 79, member A"	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.709C>T	1.37:g.3545057C>T			3534917	A8K1K4|Q8WV04	Silent	SNP	ENST00000378344.2	37	CCDS47.1																																																																																				0.498	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752		T	3545057	C	T	3545057	2	4	350	1	0	0	0	0	0	0	0	1	16419	796	28	2		2	TPRG1L	1	3545057	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09		3545057	245705564	1	18980											
IQCC	55721	genome.wustl.edu	37	1	32673259	32673259	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:32673259G>C	ENST00000291358.6	+	5	998	c.977G>C	c.(976-978)aGa>aCa	p.R326T	IQCC_ENST00000537469.1_Missense_Mutation_p.R406T|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	326										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAGACCCCCAGAGGTTTAAAA	0.522																																																0			1											53	60	57					1																	32673259		2203	4300	6503	32445846	SO:0001583	missense	55721			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.977G>C	1.37:g.32673259G>C	ENSP00000291358:p.Arg326Thr		32445846	F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	CCDS355.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772466	0.31411	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.12039	2.72;2.72	3.98	-0.367	0.12541	.	0.796371	0.11277	N	0.580756	T	0.06962	0.0177	N	0.14661	0.345	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.18871	0.023;0.007	T	0.34750	-0.9816	10	0.49607	T	0.09	-1.0E-4	4.0326	0.09716	0.2912:0.1982:0.5106:0.0	.	406;326	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	T	406;326	ENSP00000442291:R406T;ENSP00000291358:R326T	ENSP00000291358:R326T	R	+	2	0	IQCC	32445846	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.187000	0.16998	-0.057000	0.13199	0.491000	0.48974	AGA		0.522	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		C	32673259	G	C	32673259	3	2	350	1	0	0	0	0	1	0	0	0	7804	942	33	3	1235	3	IQCC	1	32673259	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	29128202	32673259	216577362	2	18981											
KIAA0467	23334	genome.wustl.edu	37	1	43896283	43896283	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:43896283G>T	ENST00000562955.1	+	31	4426	c.4426G>T	c.(4426-4428)Gac>Tac	p.D1476Y	SZT2_ENST00000372442.1_Missense_Mutation_p.D634Y	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1533					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCGCTGTCAGACGTAGACAC	0.572																																																0			1											100	102	101					1																	43896283		2203	4300	6503	43668870	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4426G>T	1.37:g.43896283G>T	ENSP00000457168:p.Asp1476Tyr		43668870	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771226	0.49680	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.75875	-0.3163	9	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1476	Q5T011-5	.	Y	634	.	ENSP00000361519:D634Y	D	+	1	0	SZT2	43668870	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	9.295000	0.96095	2.793000	0.96121	0.655000	0.94253	GAC		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		T	43896283	G	T	43896283	3	4	350	1	0	0	0	0	1	0	0	0	8178	942	33	3	1958	3	KIAA0467	1	43896283	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	11223024	43896283	205354338	3	18982											
SFRS11	9295	genome.wustl.edu	37	1	70715700	70715700	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:70715700G>C	ENST00000370950.3	+	11	1170	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T	SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370951.1_Missense_Mutation_p.R363T|SRSF11_ENST00000405432.1_Missense_Mutation_p.R363T|SRSF11_ENST00000370949.1_Missense_Mutation_p.R303T			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	363					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TCTCCTAAAAGAAAATTGTCC	0.368																																																0			1											83	89	87					1																	70715700		2203	4300	6503	70488288	SO:0001583	missense	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1088G>C	1.37:g.70715700G>C	ENSP00000359988:p.Arg363Thr		70488288	Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228582	0.58777	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	T;D;D;D;T	0.96940	2.24;-1.62;-1.62;-4.18;-0.34	5.45	5.45	0.79879	.	0.141665	0.64402	D	0.000014	D	0.95249	0.8459	M	0.72894	2.215	0.80722	D	1	P;P;P;P	0.50819	0.939;0.808;0.808;0.808	P;B;B;B	0.45538	0.484;0.242;0.242;0.242	D	0.94088	0.7350	10	0.33940	T	0.23	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	303;370;363;363	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	T	363;363;363;370;303	ENSP00000359989:R363T;ENSP00000359988:R363T;ENSP00000384357:R363T;ENSP00000378568:R370T;ENSP00000359987:R303T	ENSP00000359987:R303T	R	+	2	0	SRSF11	70488288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.441000	0.73439	2.730000	0.93505	0.655000	0.94253	AGA		0.368	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		C	70715700	G	C	70715700	3	2	350	1	0	0	0	0	1	0	0	0	14169	942	33	3	1126	3	SFRS11	1	70715700	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	26819417	70715700	178534921	4	18983											
F5	2153	genome.wustl.edu	37	1	169521973	169521973	+	Splice_Site	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:169521973C>G	ENST00000367797.3	-	8	1320		c.e8-1		F5_ENST00000546081.1_Splice_Site|F5_ENST00000367796.3_Splice_Site	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCTGTATTTTCTTAAAGTGAA	0.338																																																0			1											84	91	88					1																	169521973		2203	4300	6503	167788597	SO:0001630	splice_region_variant	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1119-1G>C	1.37:g.169521973C>G			167788597	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Splice_Site	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304046	0.81136	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3147	0.90215	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F5	167788597	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.946000	0.75953	2.754000	0.94517	0.655000	0.94253	.		0.338	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	Intron	G	169521973	C	G	169521973	5	3	350	1	0	0	0	0	0	0	1	0	5348	927	32	3	5628	3	F5	1	169521973	Splice_Site	SNP	C	TCGA-29-1777-01A-01W-0639-09	98806273	169521973	79728648	5	18984											
GLUL	2752	genome.wustl.edu	37	1	182353664	182353664	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:182353664T>C	ENST00000331872.6	-	7	1538	c.998A>G	c.(997-999)aAg>aGg	p.K333R	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.K333R|GLUL_ENST00000311223.5_Missense_Mutation_p.K333R|GLUL_ENST00000339526.4_Missense_Mutation_p.K333R	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	333					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	GTAACCCTTCTTCTCCTGGCC	0.532																																																0			1											92	85	88					1																	182353664		2203	4300	6503	180620287	SO:0001583	missense	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.998A>G	1.37:g.182353664T>C	ENSP00000356537:p.Lys333Arg		180620287	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049184	0.55110	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.34	1.77	0.24775	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.170510	0.56097	N	0.000028	T	0.81870	0.4914	L	0.53561	1.675	0.43761	D	0.996272	B	0.11235	0.004	B	0.16289	0.015	T	0.73272	-0.4035	10	0.62326	D	0.03	-17.0524	7.7637	0.28968	0.0:0.3339:0.0:0.6661	.	333	P15104	GLNA_HUMAN	R	333	ENSP00000356537:K333R;ENSP00000307900:K333R;ENSP00000398320:K333R;ENSP00000344958:K333R	ENSP00000307900:K333R	K	-	2	0	GLUL	180620287	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.829000	0.55760	0.052000	0.16007	0.460000	0.39030	AAG		0.532	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		C	182353664	T	C	182353664	3	2	350	1	0	0	0	0	1	0	0	0	6478	1609	56	4	127	4	GLUL	1	182353664	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09	12831691	182353664	66896957	6	18985											
HHAT	55733	genome.wustl.edu	37	1	210847704	210847704	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:210847704A>T	ENST00000367010.1	+	12	1692	c.1465A>T	c.(1465-1467)Acc>Tcc	p.T489S	HHAT_ENST00000541565.1_Missense_Mutation_p.T352S|HHAT_ENST00000308852.6_Missense_Mutation_p.T444S|HHAT_ENST00000261458.3_Missense_Mutation_p.T489S|HHAT_ENST00000545781.1_Missense_Mutation_p.T426S|HHAT_ENST00000413764.2_Missense_Mutation_p.T489S|HHAT_ENST00000367009.1_Missense_Mutation_p.T179S|HHAT_ENST00000545154.1_Missense_Mutation_p.T490S|HHAT_ENST00000537898.1_Missense_Mutation_p.T424S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	489					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGGGCCCAGACCTACGCCAC	0.602																																																0			1											104	83	90					1																	210847704		2203	4300	6503	208914327	SO:0001583	missense	55733			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1465A>T	1.37:g.210847704A>T	ENSP00000355977:p.Thr489Ser		208914327	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904586	0.52333	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T	0.46451	2.18;0.87;2.08;2.19;2.18;2.18;2.18;2.18;0.89	5.51	5.51	0.81932	.	.	.	.	.	T	0.49795	0.1578	L	0.34521	1.04	0.25804	N	0.984472	D;D;D;D;P	0.67145	0.993;0.996;0.993;0.993;0.765	D;D;D;D;B	0.77557	0.978;0.99;0.978;0.978;0.22	T	0.38735	-0.9647	9	0.30854	T	0.27	.	9.2607	0.37610	0.8394:0.0:0.0:0.1606	.	444;490;352;424;489	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	S	489;352;490;424;426;489;444;489;179	ENSP00000416845:T489S;ENSP00000444995:T352S;ENSP00000438468:T490S;ENSP00000442625:T424S;ENSP00000439229:T426S;ENSP00000261458:T489S;ENSP00000308628:T444S;ENSP00000355977:T489S;ENSP00000355976:T179S	ENSP00000261458:T489S	T	+	1	0	HHAT	208914327	1.000000	0.71417	0.997000	0.53966	0.711000	0.40976	3.053000	0.49901	2.210000	0.71456	0.533000	0.62120	ACC		0.602	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		T	210847704	A	T	210847704	3	4	350	1	0	0	0	0	1	0	0	0	7089	275	10	5	1605	5	HHAT	1	210847704	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	28494040	210847704	38402917	7	18986											
OBSCN	84033	genome.wustl.edu	37	1	228482623	228482623	+	Nonsense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:228482623C>G	ENST00000422127.1	+	43	11582	c.11538C>G	c.(11536-11538)taC>taG	p.Y3846*	OBSCN_ENST00000366709.4_Nonsense_Mutation_p.Y965*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Y4275*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Y965*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.Y2693*|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Y3846*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3846	Ig-like 39.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGACAGATACAGCCTGAGGC	0.627																																																0			1											132	134	133					1																	228482623		2092	4197	6289	226549246	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11538C>G	1.37:g.228482623C>G	ENSP00000409493:p.Tyr3846*		226549246	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	62	68.322242	0.99991	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	.	.	.	5.1	3.18	0.36537	.	0.722974	0.13016	N	0.420512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8085	0.46531	0.0:0.7879:0.1384:0.0737	.	.	.	.	X	3846;3846;965;965;2693	.	ENSP00000284548:Y3846X	Y	+	3	2	OBSCN	226549246	0.000000	0.05858	0.122000	0.21767	0.181000	0.23173	0.240000	0.18042	1.385000	0.46445	0.467000	0.42956	TAC		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228482623	C	G	228482623	4	3	350	1	0	0	0	0	0	1	0	0	10812	489	17	3	11704	3	OBSCN	1	228482623	Nonsense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	17634919	228482623	20767998	8	18987											
TRIM17	51127	genome.wustl.edu	37	1	228598732	228598732	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:228598732C>A	ENST00000366697.2	-	3	1627	c.671G>T	c.(670-672)tGc>tTc	p.C224F	TRIM17_ENST00000295033.3_Missense_Mutation_p.C224F|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Missense_Mutation_p.C224F|TRIM17_ENST00000366698.2_Missense_Mutation_p.C224F			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	224					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCGGTCCAGGCAGGCCACGCT	0.637																																																0			1											33	38	36					1																	228598732		2203	4300	6503	226665355	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.671G>T	1.37:g.228598732C>A	ENSP00000355658:p.Cys224Phe		226665355	B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	c	0.402	-0.917635	0.02396	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	4.48	-3.18	0.05186	.	3.374280	0.01097	N	0.005285	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B;B	0.23735	0.09;0.0	B;B	0.12156	0.007;0.0	T	0.41502	-0.9505	10	0.66056	D	0.02	.	1.4283	0.02328	0.2908:0.2554:0.3278:0.126	.	224;224	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	F	224;224;224;224;197	ENSP00000355658:C224F;ENSP00000355659:C224F;ENSP00000295033:C224F;ENSP00000403312:C224F;ENSP00000430468:C197F	ENSP00000295033:C224F	C	-	2	0	TRIM17	226665355	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.149000	0.03182	-0.327000	0.08551	-1.630000	0.00783	TGC		0.637	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		A	228598732	C	A	228598732	3	1	350	1	0	0	0	0	1	0	0	0	16493	710	25	3	927	3	TRIM17	1	228598732	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	116109	228598732	20651889	9	18988											
KIF26B	55083	genome.wustl.edu	37	1	245530254	245530254	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:245530254A>T	ENST00000407071.2	+	3	1024	c.584A>T	c.(583-585)aAg>aTg	p.K195M	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	195					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AACCAGTTGAAGCAGGAGGCC	0.617																																																0			1											44	48	47					1																	245530254		2180	4269	6449	243596877	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.584A>T	1.37:g.245530254A>T	ENSP00000385545:p.Lys195Met		243596877	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775823	0.70107	.	.	ENSG00000162849	ENST00000407071	D	0.82081	-1.57	5.44	5.44	0.79542	.	.	.	.	.	D	0.89976	0.6871	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.91085	0.4902	9	0.87932	D	0	.	15.8087	0.78538	1.0:0.0:0.0:0.0	.	195	Q2KJY2	KI26B_HUMAN	M	195	ENSP00000385545:K195M	ENSP00000385545:K195M	K	+	2	0	KIF26B	243596877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.191000	0.70037	0.528000	0.53228	AAG		0.617	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		T	245530254	A	T	245530254	3	4	350	1	0	0	0	0	1	0	0	0	8295	72	3	5	594	5	KIF26B	1	245530254	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	16931522	245530254	3720367	10	18989											
ROCK2	9475	genome.wustl.edu	37	2	11355067	11355067	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:11355067G>A	ENST00000315872.6	-	16	2283	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	ROCK2_ENST00000401753.1_Missense_Mutation_p.A369V	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	612	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTTAACTTGGCAGTCTCCAG	0.393																																																0			2											96	86	89					2																	11355067		1816	4071	5887	11272518	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1835C>T	2.37:g.11355067G>A	ENSP00000317985:p.Ala612Val		11272518	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561560	0.45590	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	T;T	0.62941	-0.01;1.05	5.03	5.03	0.67393	.	0.225320	0.45361	D	0.000378	T	0.54581	0.1867	L	0.36672	1.1	0.38785	D	0.954841	B	0.12013	0.005	B	0.11329	0.006	T	0.52335	-0.8589	10	0.30078	T	0.28	.	18.3685	0.90399	0.0:0.0:1.0:0.0	.	612	O75116	ROCK2_HUMAN	V	612;369	ENSP00000317985:A612V;ENSP00000385509:A369V	ENSP00000317985:A612V	A	-	2	0	ROCK2	11272518	0.968000	0.33430	1.000000	0.80357	0.998000	0.95712	3.198000	0.51035	2.326000	0.78906	0.650000	0.86243	GCC		0.393	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			A	11355067	G	A	11355067	3	1	350	1	0	0	0	0	1	0	0	0	13521	1203	42	2	2403	2	ROCK2	2	11355067	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		11355067	231844306	11	18990											
NBAS	51594	genome.wustl.edu	37	2	15468372	15468372	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:15468372C>T	ENST00000281513.5	-	37	4437	c.4412G>A	c.(4411-4413)gGg>gAg	p.G1471E	NBAS_ENST00000441750.1_Missense_Mutation_p.G1351E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1471					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGGATGACACCCTTGTTTCTC	0.378																																																0			2											212	190	197					2																	15468372		2203	4300	6503	15385823	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4412G>A	2.37:g.15468372C>T	ENSP00000281513:p.Gly1471Glu		15385823	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.24|15.24	2.775241|2.775241	0.49786|0.49786	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|T	0.12361|0.23950	2.69;2.89|1.88	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.044941|0.044941	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.47116|0.47116	0.1428|0.1428	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.992|.	T|T	0.33624|0.33624	-0.9861|-0.9861	10|8	0.87932|0.34782	D|T	0|0.22	.|.	16.0111|16.0111	0.80404|0.80404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1351;1471|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	E|S	1351;1471|519	ENSP00000413201:G1351E;ENSP00000281513:G1471E|ENSP00000398411:G519S	ENSP00000281513:G1471E|ENSP00000398411:G519S	G|G	-|-	2|1	0|0	NBAS|NBAS	15385823|15385823	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.090000|0.090000	0.18270|0.18270	5.714000|5.714000	0.68422|0.68422	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15468372	C	T	15468372	3	4	350	1	0	0	0	0	1	0	0	0	10186	623	22	2	2767	2	NBAS	2	15468372	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	4113305	15468372	227731001	12	18991											
KIF3C	3797	genome.wustl.edu	37	2	26204291	26204291	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:26204291C>G	ENST00000264712.3	-	1	1075	c.496G>C	c.(496-498)Gag>Cag	p.E166Q	KIF3C_ENST00000405914.1_Missense_Mutation_p.E166Q	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	166	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTCAGCTCTAGCCTCTTG	0.547																																																0			2											87	95	92					2																	26204291		2203	4300	6503	26057795	SO:0001583	missense	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.496G>C	2.37:g.26204291C>G	ENSP00000264712:p.Glu166Gln		26057795	O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791780	0.50102	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	T;T	0.75260	-0.92;-0.92	5.62	4.75	0.60458	Kinesin, motor domain (4);	0.099308	0.64402	D	0.000002	T	0.77725	0.4173	L	0.38531	1.155	0.80722	D	1	B;P	0.48503	0.158;0.911	B;P	0.61003	0.185;0.882	T	0.77920	-0.2407	10	0.49607	T	0.09	.	12.3981	0.55397	0.0:0.9183:0.0:0.0817	.	166;166	B7ZM25;O14782	.;KIF3C_HUMAN	Q	166	ENSP00000264712:E166Q;ENSP00000385030:E166Q	ENSP00000264712:E166Q	E	-	1	0	KIF3C	26057795	1.000000	0.71417	0.913000	0.36048	0.972000	0.66771	7.818000	0.86416	1.376000	0.46267	0.563000	0.77884	GAG		0.547	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			G	26204291	C	G	26204291	3	3	350	1	0	0	0	0	1	0	0	0	8302	922	32	3	1917	3	KIF3C	2	26204291	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	10735919	26204291	216995082	13	18992											
C2orf39	92749	genome.wustl.edu	37	2	26667807	26667807	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:26667807A>T	ENST00000288710.2	+	10	1461	c.1387A>T	c.(1387-1389)Atg>Ttg	p.M463L	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	463					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGAAATGCTTATGCGCTCAGG	0.522																																																0			2											50	46	47					2																	26667807		2203	4300	6503	26521311	SO:0001583	missense	92749			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1387A>T	2.37:g.26667807A>T	ENSP00000288710:p.Met463Leu		26521311	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.753347	0.00663	.	.	ENSG00000157856	ENST00000288710	T	0.12672	2.66	5.0	-3.29	0.05017	.	1.027930	0.07641	N	0.930347	T	0.05410	0.0143	N	0.04018	-0.295	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43925	-0.9361	10	0.23302	T	0.38	-10.7825	7.5702	0.27902	0.2564:0.5065:0.0:0.2371	.	463	Q96MC2	CC164_HUMAN	L	463	ENSP00000288710:M463L	ENSP00000288710:M463L	M	+	1	0	CCDC164	26521311	0.003000	0.15002	0.069000	0.20011	0.002000	0.02628	-0.448000	0.06820	-0.321000	0.08627	-0.418000	0.06021	ATG		0.522	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		T	26667807	A	T	26667807	3	4	350	1	0	0	0	0	1	0	0	0	2164	449	16	5	1425	5	C2orf39	2	26667807	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	463516	26667807	216531566	14	18993											
ALK	238	genome.wustl.edu	37	2	29445407	29445407	+	Silent	SNP	T	T	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:29445407T>G	ENST00000389048.3	-	21	4332	c.3426A>C	c.(3424-3426)ccA>ccC	p.P1142P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCAGGGGGCTTGGGTCGTTGG	0.592			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0			2											56	56	56					2																	29445407		2203	4300	6503	29298911	SO:0001819	synonymous_variant	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3426A>C	2.37:g.29445407T>G			29298911	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																				0.592	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		G	29445407	T	G	29445407	2	3	350	1	0	0	0	0	0	0	0	1	525	1799	63	5		5	ALK	2	29445407	Silent	SNP	T	TCGA-29-1777-01A-01W-0639-09	2777600	29445407	213753966	15	18994											
TTC7A	57217	genome.wustl.edu	37	2	47278961	47278961	+	Silent	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:47278961C>A	ENST00000319190.5	+	18	2462	c.2094C>A	c.(2092-2094)gtC>gtA	p.V698V	TTC7A_ENST00000409245.1_Silent_p.V664V|TTC7A_ENST00000394850.2_Silent_p.V722V|TTC7A_ENST00000263737.6_Silent_p.V344V	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	698					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCTCTTCGGTCCTGAAGCAGG	0.657																																																0			2											38	37	38					2																	47278961		2203	4300	6503	47132465	SO:0001819	synonymous_variant	57217			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2094C>A	2.37:g.47278961C>A			47132465	Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	CCDS33193.1																																																																																				0.657	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		A	47278961	C	A	47278961	2	1	350	1	0	0	0	0	0	0	0	1	16712	842	30	3		3	TTC7A	2	47278961	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09	17833554	47278961	195920412	16	18995											
CCT4	10575	genome.wustl.edu	37	2	62096595	62096595	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:62096595T>C	ENST00000394440.3	-	13	1881	c.1585A>G	c.(1585-1587)Att>Gtt	p.I529V	CCT4_ENST00000461540.2_5'UTR|CCT4_ENST00000544079.1_Missense_Mutation_p.I499V|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.I473V|CCT4_ENST00000544185.1_Missense_Mutation_p.I379V	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	529					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATTTTCAGAATGCTCCGAACA	0.393																																																0			2											89	89	89					2																	62096595		2203	4300	6503	61950099	SO:0001583	missense	10575				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1585A>G	2.37:g.62096595T>C	ENSP00000377958:p.Ile529Val		61950099	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437509	0.83885	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	M	0.82716	2.605	0.80722	D	1	P;P	0.52577	0.916;0.954	P;P	0.53360	0.654;0.724	T	0.21415	-1.0246	10	0.59425	D	0.04	-13.9408	14.2397	0.65950	0.0:0.0:0.0:1.0	.	499;529	F5H5W3;P50991	.;TCPD_HUMAN	V	529;499;379;473	ENSP00000377958:I529V;ENSP00000443061:I499V;ENSP00000443451:I379V;ENSP00000442174:I473V	ENSP00000377958:I529V	I	-	1	0	CCT4	61950099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.720000	0.84759	1.890000	0.54733	0.528000	0.53228	ATT		0.393	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			C	62096595	T	C	62096595	3	2	350	1	0	0	0	0	1	0	0	0	2955	1464	51	4	42	4	CCT4	2	62096595	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09	14817634	62096595	181102778	17	18996											
C2orf86	51057	genome.wustl.edu	37	2	63666899	63666899	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:63666899A>G	ENST00000272321.7	-	7	1018	c.491T>C	c.(490-492)aTc>aCc	p.I164T	WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000409562.3_Missense_Mutation_p.I164T|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000398544.3_5'Flank	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	164					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						ACCATCACTGATGGTGTCTGA	0.483																																																0			2											129	126	127					2																	63666899		1951	4172	6123	63520403	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.491T>C	2.37:g.63666899A>G	ENSP00000272321:p.Ile164Thr		63520403	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166166	0.78339	.	.	ENSG00000143951	ENST00000272321;ENST00000409562	T;T	0.55588	0.51;0.51	5.68	5.68	0.88126	.	0.121061	0.53938	D	0.000042	T	0.72859	0.3513	M	0.75264	2.295	0.58432	D	0.999998	D;D	0.89917	1.0;0.984	D;P	0.85130	0.997;0.903	T	0.76266	-0.3022	10	0.72032	D	0.01	-8.006	15.9325	0.79675	1.0:0.0:0.0:0.0	.	164;164	O95876-2;O95876	.;FRITZ_HUMAN	T	164	ENSP00000272321:I164T;ENSP00000387222:I164T	ENSP00000272321:I164T	I	-	2	0	WDPCP	63520403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.106000	0.77039	2.169000	0.68431	0.528000	0.53228	ATC		0.483	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		G	63666899	A	G	63666899	3	3	350	1	0	0	0	0	1	0	0	0	2201	333	12	4	1823	4	C2orf86	2	63666899	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	1570304	63666899	179532474	18	18997											
CNNM3	26505	genome.wustl.edu	37	2	97498311	97498311	+	Silent	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:97498311C>G	ENST00000305510.3	+	8	2110	c.2082C>G	c.(2080-2082)ggC>ggG	p.G694G	ANKRD23_ENST00000476975.1_5'UTR|CNNM3_ENST00000377060.3_Silent_p.G646G	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	694					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GCAGGCCCGGCGTCCCGGTGG	0.577																																																0			2											115	130	124					2																	97498311		2203	4300	6503	96862038	SO:0001819	synonymous_variant	26505			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.2082C>G	2.37:g.97498311C>G			96862038	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	CCDS2025.1																																																																																				0.577	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		G	97498311	C	G	97498311	2	3	350	1	0	0	0	0	0	0	0	1	3614	755	27	3		3	CNNM3	2	97498311	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09	33831412	97498311	145701062	19	18998											
IL1F8	27177	genome.wustl.edu	37	2	113788727	113788727	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:113788727C>A	ENST00000259213.4	-	3	126	c.19G>T	c.(19-21)Gca>Tca	p.A7S	IL36B_ENST00000327407.2_Missense_Mutation_p.A7S	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	7					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						TTGGGTGCTGCCTCCCCTGCC	0.463																																																0			2											90	80	84					2																	113788727		2203	4300	6503	113505198	SO:0001583	missense	27177			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.19G>T	2.37:g.113788727C>A	ENSP00000259213:p.Ala7Ser		113505198	Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	c	1.767	-0.485265	0.04352	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.35048	2.34;1.33	2.66	-4.56	0.03431	.	2.945810	0.01464	N	0.016004	T	0.20659	0.0497	N	0.22421	0.69	0.09310	N	1	P;B	0.37276	0.589;0.011	B;B	0.33392	0.163;0.009	T	0.09574	-1.0668	10	0.34782	T	0.22	.	4.6682	0.12676	0.0:0.2509:0.3077:0.4414	.	7;7	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	S	7	ENSP00000259213:A7S;ENSP00000328420:A7S	ENSP00000259213:A7S	A	-	1	0	IL36B	113505198	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.051000	0.00628	-1.301000	0.02338	-0.420000	0.06012	GCA		0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		A	113788727	C	A	113788727	3	1	350	1	0	0	0	0	1	0	0	0	7656	739	26	3	708	3	IL1F8	2	113788727	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	16290416	113788727	129410646	20	18999											
TTC30A	92104	genome.wustl.edu	37	2	178481562	178481562	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:178481562C>A	ENST00000355689.5	-	1	2132	c.1868G>T	c.(1867-1869)gGc>gTc	p.G623V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	623					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TATGTTTGTGCCATAAAGTTC	0.383																																																0			2											202	194	197					2																	178481562		2203	4300	6503	178189808	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1868G>T	2.37:g.178481562C>A	ENSP00000347915:p.Gly623Val		178189808	A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990329	0.54041	.	.	ENSG00000197557	ENST00000355689;ENST00000545660	T	0.33865	1.39	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	M	0.87180	2.865	0.80722	D	1	D	0.54964	0.969	P	0.46543	0.52	T	0.65125	-0.6244	10	0.87932	D	0	.	20.1952	0.98241	0.0:1.0:0.0:0.0	.	623	Q86WT1	TT30A_HUMAN	V	623;84	ENSP00000347915:G623V	ENSP00000347915:G623V	G	-	2	0	TTC30A	178189808	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	4.179000	0.58290	2.781000	0.95711	0.586000	0.80456	GGC		0.383	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		A	178481562	C	A	178481562	3	1	350	1	0	0	0	0	1	0	0	0	16698	739	26	3	133	3	TTC30A	2	178481562	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	64692835	178481562	64717811	21	19000											
TTN	7273	genome.wustl.edu	37	2	179615937	179615937	+	Intron	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:179615937T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.R3730R|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCAAAGTTCTTGAGCTTA	0.343																																																0			2											54	53	53					2																	179615937		2202	4296	6498	179324182	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1913A>G	2.37:g.179615937T>C			179324182	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179615937	T	C	179615937	1	2	350	0	1	0	0	0	0	0	0	0	16735	1780	62	4		4	TTN	2	179615937	Intron	SNP	T	TCGA-29-1777-01A-01W-0639-09	1134375	179615937	63583436	22	19001											
TTN	7273	genome.wustl.edu	37	2	179629349	179629349	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:179629349A>G	ENST00000591111.1	-	42	10117	c.9893T>C	c.(9892-9894)cTa>cCa	p.L3298P	TTN_ENST00000589042.1_Missense_Mutation_p.L3298P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.L3298P|TTN_ENST00000342175.6_Missense_Mutation_p.L3252P|TTN_ENST00000342992.6_Missense_Mutation_p.L3298P|TTN_ENST00000359218.5_Missense_Mutation_p.L3252P|TTN_ENST00000460472.2_Missense_Mutation_p.L3252P			Q8WZ42	TITIN_HUMAN	titin	13625	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTCAATTAGCAAAAGCGT	0.473																																																0			2											114	110	112					2																	179629349		2203	4300	6503	179337594	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9893T>C	2.37:g.179629349A>G	ENSP00000465570:p.Leu3298Pro		179337594	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	15.68	2.904429	0.52333	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85999	0.5828	M	0.93106	3.38	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.89478	0.3748	9	0.87932	D	0	.	15.956	0.79889	1.0:0.0:0.0:0.0	.	3252;3252;3252;3298;3298	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	P	3298;3252;3252;3252;3252;3298	ENSP00000343764:L3298P;ENSP00000434586:L3252P;ENSP00000340554:L3252P;ENSP00000352154:L3252P;ENSP00000354117:L3298P	ENSP00000340554:L3252P	L	-	2	0	TTN	179337594	1.000000	0.71417	0.887000	0.34795	0.993000	0.82548	9.339000	0.96797	2.167000	0.68274	0.533000	0.62120	CTA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179629349	A	G	179629349	3	3	350	1	0	0	0	0	1	0	0	0	16735	420	15	4	101379	4	TTN	2	179629349	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	13412	179629349	63570024	23	19002											
TNS1	7145	genome.wustl.edu	37	2	218682900	218682900	+	Silent	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:218682900G>A	ENST00000171887.4	-	24	4295	c.3843C>T	c.(3841-3843)ggC>ggT	p.G1281G	TNS1_ENST00000419504.1_Silent_p.G1268G|TNS1_ENST00000430930.1_Silent_p.G1260G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1281					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGCCAGGTTGCCTTGGTGAG	0.667																																																0			2											19	21	20					2																	218682900		2196	4289	6485	218391145	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3843C>T	2.37:g.218682900G>A			218391145	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218682900	G	A	218682900	2	1	350	1	0	0	0	0	0	0	0	1	16343	1306	46	2		2	TNS1	2	218682900	Silent	SNP	G	TCGA-29-1777-01A-01W-0639-09	39053551	218682900	24516473	24	19003											
SERPINE2	5270	genome.wustl.edu	37	2	224845114	224845114	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:224845114C>T	ENST00000258405.4	-	7	1231	c.989G>A	c.(988-990)gGg>gAg	p.G330E	SERPINE2_ENST00000409840.3_Splice_Site_p.R329K|SERPINE2_ENST00000409304.1_Splice_Site_p.R329K|SERPINE2_ENST00000447280.2_Splice_Site_p.R341K	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	330					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GTTTTCTGACCCTGCTTCCAG	0.423																																																0			2											108	102	104					2																	224845114		2203	4300	6503	224553358	SO:0001583	missense	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.989G>A	2.37:g.224845114C>T	ENSP00000258405:p.Gly330Glu		224553358	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	CCDS2460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.553885|1.553885	0.27739|0.27739	.|.	.|.	ENSG00000135919|ENSG00000135919	ENST00000258405|ENST00000409304;ENST00000409840;ENST00000447280	T|T;T;T	0.74632|0.21031	-0.86|2.03;2.03;2.03	5.91|5.91	4.13|4.13	0.48395|0.48395	Serpin domain (3);|.	1.171400|.	0.06421|.	N|.	0.722345|.	T|T	0.13114|0.13114	0.0318|0.0318	L|L	0.28192|0.28192	0.835|0.835	0.58432|0.58432	D|D	0.999993|0.999993	P|B	0.35628|0.02656	0.513|0.0	B|B	0.39706|0.09377	0.307|0.004	T|T	0.05954|0.05954	-1.0854|-1.0854	10|9	0.33940|0.07325	T|T	0.23|0.83	.|.	12.1182|12.1182	0.53878|0.53878	0.0:0.8608:0.0:0.1392|0.0:0.8608:0.0:0.1392	.|.	330|341	P07093|B4DIF2	GDN_HUMAN|.	E|K	330|329;329;341	ENSP00000258405:G330E|ENSP00000386412:R329K;ENSP00000386969:R329K;ENSP00000415786:R341K	ENSP00000258405:G330E|ENSP00000386412:R329K	G|R	-|-	2|2	0|0	SERPINE2|SERPINE2	224553358|224553358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.812000|0.812000	0.45895|0.45895	4.730000|4.730000	0.62015|0.62015	0.850000|0.850000	0.35239|0.35239	-0.136000|-0.136000	0.14681|0.14681	GGG|AGG		0.423	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		T	224845114	C	T	224845114	3	4	350	1	0	0	0	0	1	0	0	0	14115	637	22	2	219	2	SERPINE2	2	224845114	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	6162214	224845114	18354259	25	19004											
DOCK10	55619	genome.wustl.edu	37	2	225639812	225639812	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:225639812G>T	ENST00000258390.7	-	52	5890	c.5823C>A	c.(5821-5823)gaC>gaA	p.D1941E	DOCK10_ENST00000409592.3_Missense_Mutation_p.D1935E	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1941	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATATTTGGGGTCCAAATCCT	0.493																																																0			2											77	77	77					2																	225639812		1976	4164	6140	225348056	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5823C>A	2.37:g.225639812G>T	ENSP00000258390:p.Asp1941Glu		225348056	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.725847|2.725847	0.48833|0.48833	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702|ENST00000535663	T;T|.	0.22539|.	1.95;1.96|.	5.48|5.48	1.05|1.05	0.20165|0.20165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58366|0.58366	0.2117|0.2117	L|L	0.61387|0.61387	1.9|1.9	0.43317|0.43317	D|D	0.995333|0.995333	P;P;P|.	0.46457|.	0.878;0.863;0.847|.	P;P;B|.	0.53760|.	0.734;0.573;0.39|.	T|T	0.52653|0.52653	-0.8547|-0.8547	10|5	0.49607|.	T|.	0.09|.	.|.	6.803|6.803	0.23762|0.23762	0.6172:0.0:0.3828:0.0|0.6172:0.0:0.3828:0.0	.|.	1941;1935;603|.	Q96BY6;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.|.	E|T	1935;1941;448|91	ENSP00000386694:D1935E;ENSP00000258390:D1941E|.	ENSP00000258390:D1941E|.	D|P	-|-	3|1	2|0	DOCK10|DOCK10	225348056|225348056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.328000|1.328000	0.33758|0.33758	0.357000|0.357000	0.24183|0.24183	0.563000|0.563000	0.77884|0.77884	GAC|CCC		0.493	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			T	225639812	G	T	225639812	3	4	350	1	0	0	0	0	1	0	0	0	4685	1252	44	3	757	3	DOCK10	2	225639812	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	794698	225639812	17559561	26	19005											
KIF1A	547	genome.wustl.edu	37	2	241728666	241728666	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:241728666C>A	ENST00000320389.7	-	3	328	c.170G>T	c.(169-171)tGg>tTg	p.W57L	KIF1A_ENST00000498729.2_Missense_Mutation_p.W57L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	57	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTGTGCGACCAGTAGGAGTA	0.622																																																0			2											68	79	75					2																	241728666		2166	4289	6455	241377339	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.170G>T	2.37:g.241728666C>A	ENSP00000322791:p.Trp57Leu		241377339	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866447	0.91511	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.88046	-2.33;-2.33;-2.33	4.52	4.52	0.55395	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.93844	0.8031	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.979;0.998;0.999	D	0.94986	0.8130	10	0.87932	D	0	.	16.0154	0.80434	0.0:1.0:0.0:0.0	.	57;57;57	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	L	57	ENSP00000322791:W57L;ENSP00000438388:W57L;ENSP00000384231:W57L	ENSP00000322791:W57L	W	-	2	0	KIF1A	241377339	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.626000	0.83164	2.069000	0.61940	0.462000	0.41574	TGG		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241728666	C	A	241728666	3	1	350	1	0	0	0	0	1	0	0	0	8283	595	21	3	5082	3	KIF1A	2	241728666	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	16088854	241728666	1470707	27	19006											
ROBO1	6091	genome.wustl.edu	37	3	78988017	78988017	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr3:78988017A>C	ENST00000464233.1	-	4	346	c.233T>G	c.(232-234)aTt>aGt	p.I78S	ROBO1_ENST00000436010.2_Missense_Mutation_p.I39S|ROBO1_ENST00000495273.1_Missense_Mutation_p.I39S|ROBO1_ENST00000467549.1_Missense_Mutation_p.I39S|RN7SL751P_ENST00000473281.2_RNA	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	78	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTTGAGACAATCAGGTCTGA	0.473																																																0			3											107	100	102					3																	78988017		1864	4103	5967	79070707	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.233T>G	3.37:g.78988017A>C	ENSP00000420321:p.Ile78Ser		79070707	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715668	0.89112	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	N	0.04880	-0.145	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.995	T	0.64554	-0.6380	9	.	.	.	.	15.944	0.79779	1.0:0.0:0.0:0.0	.	78;39;39;39	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	S	39;39;78;39;39;78	ENSP00000406043:I39S;ENSP00000420321:I78S;ENSP00000420637:I39S;ENSP00000417992:I39S	.	I	-	2	0	ROBO1	79070707	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.307000	0.96226	2.170000	0.68504	0.379000	0.24179	ATT		0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		C	78988017	A	C	78988017	3	2	350	1	0	0	0	0	1	0	0	0	13516	101	4	5	4847	5	ROBO1	3	78988017	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09		78988017	119034413	28	19007											
TP63	8626	genome.wustl.edu	37	3	189612176	189612176	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr3:189612176G>A	ENST00000264731.3	+	14	2017	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	TP63_ENST00000456148.1_Missense_Mutation_p.R545Q|TP63_ENST00000354600.5_Missense_Mutation_p.R549Q|TP63_ENST00000382063.4_Missense_Mutation_p.R558Q|TP63_ENST00000449992.1_Missense_Mutation_p.R464Q|TP63_ENST00000440651.2_Missense_Mutation_p.R639Q|TP63_ENST00000320472.5_3'UTR	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	643	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATGCTGTGCGATTCACCCTC	0.552										HNSCC(45;0.13)																																						0			3											127	116	119					3																	189612176		2203	4300	6503	191094870	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1928G>A	3.37:g.189612176G>A	ENSP00000264731:p.Arg643Gln		191094870	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952162	0.92660	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81254	0.4784	N	0.19112	0.55	0.80722	D	1	D;D;D	0.57257	0.976;0.976;0.979	P;P;P	0.52710	0.682;0.682;0.707	T	0.79227	-0.1890	9	.	.	.	-14.6124	19.2867	0.94077	0.0:0.0:1.0:0.0	.	464;549;643	Q9H3D4-10;Q9H3D4-2;Q9H3D4	.;.;P63_HUMAN	Q	643;639;558;549;464;545	ENSP00000264731:R643Q;ENSP00000394337:R639Q;ENSP00000371495:R558Q;ENSP00000346614:R549Q;ENSP00000387839:R464Q;ENSP00000389485:R545Q	.	R	+	2	0	TP63	191094870	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	9.218000	0.95166	2.793000	0.96121	0.655000	0.94253	CGA		0.552	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		A	189612176	G	A	189612176	3	1	350	1	0	0	0	0	1	0	0	0	16392	1058	37	1	2147	1	TP63	3	189612176	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	110624159	189612176	8410254	29	19008											
UGT2A3	79799	genome.wustl.edu	37	4	69816890	69816890	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr4:69816890T>A	ENST00000251566.4	-	1	619	c.589A>T	c.(589-591)Aca>Tca	p.T197S	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	197					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTAGTCCTGTCATAGGCACA	0.413																																																0			4											48	50	49					4																	69816890		2203	4298	6501	69851479	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.589A>T	4.37:g.69816890T>A	ENSP00000251566:p.Thr197Ser		69851479	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.921173	0.00498	.	.	ENSG00000135220	ENST00000251566	T	0.57595	0.39	4.74	-9.48	0.00591	.	1.354690	0.05004	N	0.469696	T	0.12860	0.0312	N	0.00670	-1.27	0.09310	N	0.999998	B	0.12013	0.005	B	0.18263	0.021	T	0.04413	-1.0953	10	0.02654	T	1	.	2.3501	0.04281	0.4559:0.1312:0.0892:0.3238	.	197	Q6UWM9	UD2A3_HUMAN	S	197	ENSP00000251566:T197S	ENSP00000251566:T197S	T	-	1	0	UGT2A3	69851479	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.635000	0.00408	-4.718000	0.00035	-0.468000	0.05107	ACA		0.413	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		A	69816890	T	A	69816890	3	1	350	1	0	0	0	0	1	0	0	0	16955	1667	58	5	1018	5	UGT2A3	4	69816890	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09		69816890	121337386	30	19009											
THAP9	79725	genome.wustl.edu	37	4	83838937	83838937	+	Missense_Mutation	SNP	G	G	T	rs142358186		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr4:83838937G>T	ENST00000302236.5	+	5	1623	c.1572G>T	c.(1570-1572)agG>agT	p.R524S	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	524					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TTAATAGTAGGAACTGTTATG	0.328																																																0			4											106	112	110					4																	83838937		2203	4300	6503	84057961	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1572G>T	4.37:g.83838937G>T	ENSP00000305533:p.Arg524Ser		84057961	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	9.306	1.054307	0.19907	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.92048	-2.96	3.87	-1.91	0.07641	.	0.232716	0.30890	N	0.008661	D	0.90181	0.6931	L	0.47016	1.485	0.80722	D	1	D	0.58268	0.982	P	0.52554	0.702	D	0.86937	0.2077	10	0.62326	D	0.03	-19.58	10.5817	0.45259	0.5765:0.0:0.4235:0.0	.	524	Q9H5L6	THAP9_HUMAN	S	524	ENSP00000305533:R524S	ENSP00000305533:R524S	R	+	3	2	THAP9	84057961	0.983000	0.35010	0.943000	0.38184	0.038000	0.13279	0.001000	0.13038	-0.523000	0.06409	-0.137000	0.14449	AGG		0.328	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		T	83838937	G	T	83838937	3	4	350	1	0	0	0	0	1	0	0	0	15851	1165	41	3	1590	3	THAP9	4	83838937	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	14022047	83838937	107315339	31	19010											
LEF1	51176	genome.wustl.edu	37	4	109086252	109086252	+	Splice_Site	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr4:109086252C>A	ENST00000265165.1	-	2	935		c.e2+1		LEF1_ENST00000379951.2_Splice_Site|LEF1_ENST00000510624.1_Splice_Site|LEF1_ENST00000512172.1_Splice_Site|LEF1_ENST00000438313.2_Splice_Site|LEF1-AS1_ENST00000436413.1_RNA	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GGGTGTCTTACCGTCATCGGG	0.453																																																0			4											233	194	207					4																	109086252		2203	4300	6503	109305701	SO:0001630	splice_region_variant	51176				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.280+1G>T	4.37:g.109086252C>A			109305701	B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Splice_Site	SNP	ENST00000265165.1	37	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000534	0.54254	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEF1	109305701	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	5.325000	0.65869	2.758000	0.94735	0.563000	0.77884	.		0.453	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2		Intron	A	109086252	C	A	109086252	5	1	350	1	0	0	0	0	0	0	1	0	8714	521	18	3	1042	3	LEF1	4	109086252	Splice_Site	SNP	C	TCGA-29-1777-01A-01W-0639-09	25247315	109086252	82068024	32	19011											
TRIO	7204	genome.wustl.edu	37	5	14358356	14358356	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:14358356G>T	ENST00000344204.4	+	12	2140	c.2116G>T	c.(2116-2118)Gtg>Ttg	p.V706L	TRIO_ENST00000509967.2_Missense_Mutation_p.V657L|TRIO_ENST00000537187.1_Missense_Mutation_p.V706L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	706					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGGAGGCCGTGCAGGACCT	0.642																																																0			5											111	88	96					5																	14358356		2203	4300	6503	14411356	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2116G>T	5.37:g.14358356G>T	ENSP00000339299:p.Val706Leu		14411356	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659861	0.67586	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T;T	0.43688	0.98;0.98;0.94;0.94	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	N	0.19112	0.55	0.80722	D	1	P;D;D	0.76494	0.726;0.999;0.993	P;D;D	0.74023	0.644;0.982;0.964	T	0.50659	-0.8802	10	0.36615	T	0.2	.	17.7922	0.88555	0.0:0.0:1.0:0.0	.	657;706;706	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	L	706;706;657;393	ENSP00000339299:V706L;ENSP00000446348:V706L;ENSP00000445592:V657L;ENSP00000426342:V393L	ENSP00000339299:V706L	V	+	1	0	TRIO	14411356	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.782000	0.99034	2.273000	0.75805	0.484000	0.47621	GTG		0.642	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		T	14358356	G	T	14358356	3	4	350	1	0	0	0	0	1	0	0	0	16552	1145	40	3	2162	3	TRIO	5	14358356	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		14358356	166556904	33	19012											
VCAN	1462	genome.wustl.edu	37	5	82816312	82816312	+	Silent	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:82816312T>C	ENST00000265077.3	+	7	2752	c.2187T>C	c.(2185-2187)tcT>tcC	p.S729S	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.S681S|VCAN_ENST00000342785.4_Silent_p.S729S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	729	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCTCTACATCTCTCTCAGAGC	0.373																																																0			5											71	73	73					5																	82816312		2202	4300	6502	82852068	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2187T>C	5.37:g.82816312T>C			82852068	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82816312	T	C	82816312	2	2	350	1	0	0	0	0	0	0	0	1	17138	1538	54	4		4	VCAN	5	82816312	Silent	SNP	T	TCGA-29-1777-01A-01W-0639-09	68457956	82816312	98098948	34	19013											
APC	324	genome.wustl.edu	37	5	112173865	112173865	+	Silent	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:112173865T>C	ENST00000457016.1	+	16	2954	c.2574T>C	c.(2572-2574)atT>atC	p.I858I	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.I858I|APC_ENST00000257430.4_Silent_p.I858I			P25054	APC_HUMAN	adenomatous polyposis coli	858	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.I858fs*52(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACGCGGAATTGGTCTAGGCA	0.448		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Unknown(1)|Deletion - Frameshift(1)	pancreas(1)|skin(1)	5											70	71	70					5																	112173865		2202	4300	6502	112201764	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2574T>C	5.37:g.112173865T>C			112201764	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		C	112173865	T	C	112173865	2	2	350	1	0	0	0	0	0	0	0	1	763	1800	63	4		4	APC	5	112173865	Silent	SNP	T	TCGA-29-1777-01A-01W-0639-09	29357553	112173865	68741395	35	19014											
CDC23	8697	genome.wustl.edu	37	5	137525396	137525396	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:137525396C>T	ENST00000394886.2	-	15	1579	c.1549G>A	c.(1549-1551)Gcc>Acc	p.A517T		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	517					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAGTACTGGGCCAGATAGCGA	0.378																																																0			5											90	83	85					5																	137525396		2203	4300	6503	137553295	SO:0001583	missense	8697			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1549G>A	5.37:g.137525396C>T	ENSP00000378350:p.Ala517Thr		137553295	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	33	5.275929	0.95459	.	.	ENSG00000094880	ENST00000394886	T	0.55052	0.54	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);	0.051011	0.85682	D	0.000000	T	0.62073	0.2398	L	0.52905	1.665	0.80722	D	1	D	0.60160	0.987	P	0.52343	0.696	T	0.63821	-0.6550	10	0.56958	D	0.05	-7.5144	19.0709	0.93136	0.0:1.0:0.0:0.0	.	517	Q9UJX2	CDC23_HUMAN	T	517	ENSP00000378350:A517T	ENSP00000378350:A517T	A	-	1	0	CDC23	137553295	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.922000	0.70036	2.745000	0.94114	0.462000	0.41574	GCC		0.378	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			T	137525396	C	T	137525396	3	4	350	1	0	0	0	0	1	0	0	0	3061	739	26	2	252	2	CDC23	5	137525396	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	25351531	137525396	43389864	36	19015											
PCDHGA2	56113	genome.wustl.edu	37	5	140718919	140718919	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:140718919C>A	ENST00000394576.2	+	1	381	c.381C>A	c.(379-381)aaC>aaA	p.N127K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	127	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATATTAACGATAATGCCC	0.438																																																0			5											65	67	66					5																	140718919		2203	4300	6503	140699103	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.381C>A	5.37:g.140718919C>A	ENSP00000378077:p.Asn127Lys		140699103	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	13.83	2.352754	0.41700	.	.	ENSG00000081853	ENST00000394576	T	0.70869	-0.52	5.26	-5.34	0.02705	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.44097	U	0.000490	D	0.90532	0.7033	H	0.99960	5.065	0.20489	N	0.999891	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84469	0.0598	10	0.87932	D	0	.	16.6462	0.85177	0.0:0.2824:0.0:0.7176	.	127;127	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	K	127	ENSP00000378077:N127K	ENSP00000378077:N127K	N	+	3	2	PCDHGA2	140699103	0.000000	0.05858	0.522000	0.27862	0.753000	0.42808	-3.129000	0.00591	-1.159000	0.02807	-0.140000	0.14226	AAC		0.438	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		A	140718919	C	A	140718919	3	1	350	1	0	0	0	0	1	0	0	0	11554	535	19	3	383	3	PCDHGA2	5	140718919	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	3193523	140718919	40196341	37	19016											
NSD1	64324	genome.wustl.edu	37	5	176562394	176562394	+	Missense_Mutation	SNP	T	T	A	rs200193622		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:176562394T>A	ENST00000439151.2	+	2	335	c.290T>A	c.(289-291)tTt>tAt	p.F97Y	NSD1_ENST00000361032.4_Missense_Mutation_p.F97Y|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	97					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGAATCCTTTCAAGACCCT	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			5											84	82	82					5																	176562394		2203	4300	6503	176495000	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.290T>A	5.37:g.176562394T>A	ENSP00000395929:p.Phe97Tyr		176495000	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732133	0.30684	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.93763	-3.17;-3.28	5.23	5.23	0.72850	.	0.116384	0.39544	N	0.001335	D	0.85287	0.5662	N	0.08118	0	0.80722	D	1	P;P;P	0.51240	0.943;0.905;0.844	B;B;B	0.44278	0.445;0.259;0.347	D	0.84080	0.0384	10	0.14656	T	0.56	.	12.7593	0.57354	0.0:0.0:0.0:1.0	.	97;97;97	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	Y	97	ENSP00000395929:F97Y;ENSP00000354310:F97Y	ENSP00000354310:F97Y	F	+	2	0	NSD1	176495000	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	2.782000	0.47758	2.197000	0.70478	0.454000	0.30748	TTT		0.448	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		A	176562394	T	A	176562394	3	1	350	1	0	0	0	0	1	0	0	0	10669	1841	64	5	292	5	NSD1	5	176562394	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09	35843475	176562394	4352866	38	19017											
DST	667	genome.wustl.edu	37	6	56507577	56507577	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr6:56507577T>C	ENST00000244364.6	-	1	217	c.10A>G	c.(10-12)Agt>Ggt	p.S4G	DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S4G|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000518935.1_Missense_Mutation_p.S4G|DST_ENST00000361203.3_Intron|DST_ENST00000370765.6_Missense_Mutation_p.S4G	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTATAACTACTACTGTGCATT	0.378																																																0			6											96	94	95					6																	56507577		2203	4300	6503	56615536	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.10A>G	6.37:g.56507577T>C	ENSP00000244364:p.Ser4Gly		56615536	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000244364.6	37	CCDS47443.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536388	0.65085	.	.	ENSG00000151914	ENST00000244364;ENST00000446842;ENST00000439203;ENST00000370765;ENST00000518935	T;T;T;T;T	0.73789	1.14;0.96;-0.28;-0.78;-0.24	5.86	5.86	0.93980	.	.	.	.	.	T	0.65238	0.2672	N	0.08118	0	0.19300	N	0.999971	B;P;D;B	0.65815	0.243;0.952;0.995;0.356	B;B;P;B	0.61800	0.055;0.389;0.894;0.164	T	0.76005	-0.3117	8	0.62326	D	0.03	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	4;4;4;4	Q6P0N6;Q03001-3;Q03001-9;Q03001-8	.;.;.;.	G	4	ENSP00000244364:S4G;ENSP00000393645:S4G;ENSP00000404924:S4G;ENSP00000359801:S4G;ENSP00000431003:S4G	ENSP00000244364:S4G	S	-	1	0	DST	56615536	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.880000	0.69698	2.367000	0.80283	0.528000	0.53228	AGT		0.378	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		C	56507577	T	C	56507577	3	2	350	1	0	0	0	0	1	0	0	0	4783	1522	53	4	20481	4	DST	6	56507577	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09		56507577	114607490	39	19018											
KHDRBS2	202559	genome.wustl.edu	37	6	62611265	62611265	+	Silent	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr6:62611265A>G	ENST00000281156.4	-	5	773	c.495T>C	c.(493-495)gaT>gaC	p.D165D		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GACGAATTTCATCATTGTAGT	0.393																																																0			6											90	90	90					6																	62611265		2203	4300	6503	62669224	SO:0001819	synonymous_variant	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.495T>C	6.37:g.62611265A>G			62669224	A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	CCDS4963.1																																																																																				0.393	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		G	62611265	A	G	62611265	2	3	350	1	0	0	0	0	0	0	0	1	8147	214	8	4		4	KHDRBS2	6	62611265	Silent	SNP	A	TCGA-29-1777-01A-01W-0639-09	6103688	62611265	108503802	40	19019											
BAI3	577	genome.wustl.edu	37	6	69666082	69666082	+	Splice_Site	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr6:69666082T>A	ENST00000370598.1	+	7	2181		c.e7+2			NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATGTACAGGTAGGGCTTGAT	0.498																																																0			6											55	49	51					6																	69666082		2203	4300	6503	69722803	SO:0001630	splice_region_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1360+2T>A	6.37:g.69666082T>A			69722803	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327450	0.81690	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.975	0.80057	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAI3	69722803	1.000000	0.71417	0.987000	0.45799	0.721000	0.41392	7.844000	0.86867	2.181000	0.69327	0.482000	0.46254	.		0.498	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Intron	A	69666082	T	A	69666082	5	1	350	1	0	0	0	0	0	0	1	0	1300	1652	57	5	1380	5	BAI3	6	69666082	Splice_Site	SNP	T	TCGA-29-1777-01A-01W-0639-09	7054817	69666082	101448985	41	19020											
GPR126	57211	genome.wustl.edu	37	6	142726906	142726906	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr6:142726906G>T	ENST00000230173.6	+	15	2685	c.2209G>T	c.(2209-2211)Gat>Tat	p.D737Y	GPR126_ENST00000296932.8_Missense_Mutation_p.D709Y|GPR126_ENST00000367609.3_Missense_Mutation_p.D737Y|GPR126_ENST00000367608.2_Missense_Mutation_p.D709Y	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	737					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D708Y(1)|p.D737Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAGTCCAGAAGATTCTGTATT	0.363																																																2	Substitution - Missense(2)	large_intestine(2)	6											91	86	88					6																	142726906		1825	4077	5902	142768599	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2209G>T	6.37:g.142726906G>T	ENSP00000230173:p.Asp737Tyr		142768599	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442327	0.63067	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.27402	1.67;1.67;1.68;1.67	5.79	4.92	0.64577	.	0.577602	0.17629	N	0.167463	T	0.40297	0.1111	L	0.56769	1.78	0.41804	D	0.989936	D;D;D;D	0.63046	0.992;0.983;0.992;0.986	D;P;D;P	0.64144	0.922;0.898;0.922;0.838	T	0.39663	-0.9603	10	0.87932	D	0	.	14.8813	0.70534	0.0688:0.0:0.9312:0.0	.	709;737;709;737	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	Y	737;709;709;737	ENSP00000230173:D737Y;ENSP00000356580:D709Y;ENSP00000296932:D709Y;ENSP00000356581:D737Y	ENSP00000230173:D737Y	D	+	1	0	GPR126	142768599	1.000000	0.71417	0.943000	0.38184	0.773000	0.43773	2.858000	0.48356	1.431000	0.47355	-0.140000	0.14226	GAT		0.363	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			T	142726906	G	T	142726906	3	4	350	1	0	0	0	0	1	0	0	0	6640	942	33	3	2267	3	GPR126	6	142726906	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	73060824	142726906	28388161	42	19021											
PDE1C	5137	genome.wustl.edu	37	7	31904678	31904678	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:31904678C>A	ENST00000396191.1	-	7	1083	c.628G>T	c.(628-630)Gtc>Ttc	p.V210F	PDE1C_ENST00000321453.7_Missense_Mutation_p.V210F|PDE1C_ENST00000396182.2_Missense_Mutation_p.V210F|PDE1C_ENST00000396193.1_Missense_Mutation_p.V270F|PDE1C_ENST00000396184.3_Missense_Mutation_p.V210F	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	210	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ACAAATGAGACAAGTGCAGAA	0.453																																																0			7											132	118	123					7																	31904678		2203	4300	6503	31871203	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.628G>T	7.37:g.31904678C>A	ENSP00000379494:p.Val210Phe		31871203	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933829	0.73442	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.88	5.88	0.94601	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	L	0.33137	0.985	0.80722	D	1	D;D;D	0.65815	0.98;0.992;0.995	P;D;P	0.64237	0.823;0.923;0.856	T	0.79546	-0.1759	10	0.33940	T	0.23	.	19.8116	0.96549	0.0:1.0:0.0:0.0	.	210;270;210	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	F	270;210;210;210;210	ENSP00000379496:V270F;ENSP00000379494:V210F;ENSP00000318105:V210F;ENSP00000379487:V210F;ENSP00000379485:V210F	ENSP00000318105:V210F	V	-	1	0	PDE1C	31871203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.781000	0.95711	0.591000	0.81541	GTC		0.453	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			A	31904678	C	A	31904678	3	1	350	1	0	0	0	0	1	0	0	0	11635	478	17	3	1320	3	PDE1C	7	31904678	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09		31904678	127233985	43	19022											
POLD2	5425	genome.wustl.edu	37	7	44157330	44157330	+	Silent	SNP	G	G	T	rs149868867		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:44157330G>T	ENST00000406581.2	-	5	1003	c.354C>A	c.(352-354)ctC>ctA	p.L118L	POLD2_ENST00000452185.1_Silent_p.L118L|POLD2_ENST00000223361.3_Silent_p.L118L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	118					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GAGGCTGGGGGAGCAGGTTGT	0.542																																																0			7											65	57	59					7																	44157330		2202	4300	6502	44123855	SO:0001819	synonymous_variant	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.354C>A	7.37:g.44157330G>T			44123855	A4D2J4|B2R5S4	Silent	SNP	ENST00000406581.2	37	CCDS5477.1																																																																																				0.542	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		T	44157330	G	T	44157330	2	4	350	1	0	0	0	0	0	0	0	1	12191	1161	41	3		3	POLD2	7	44157330	Silent	SNP	G	TCGA-29-1777-01A-01W-0639-09	12252652	44157330	114981333	44	19023											
FZD1	8321	genome.wustl.edu	37	7	90895133	90895133	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:90895133C>T	ENST00000287934.2	+	1	1351	c.938C>T	c.(937-939)cCc>cTc	p.P313L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	313					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TACTTCGGGCCCGAGGAGCTG	0.612																																																0			7											83	73	77					7																	90895133		2203	4300	6503	90733069	SO:0001583	missense	8321			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.938C>T	7.37:g.90895133C>T	ENSP00000287934:p.Pro313Leu		90733069	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326459	0.41197	.	.	ENSG00000157240	ENST00000287934	D	0.81579	-1.51	4.63	4.63	0.57726	.	0.191996	0.35585	N	0.003104	T	0.72486	0.3466	L	0.27053	0.805	0.54753	D	0.999989	B	0.11235	0.004	B	0.18263	0.021	T	0.68375	-0.5425	10	0.44086	T	0.13	.	17.658	0.88183	0.0:1.0:0.0:0.0	.	313	Q9UP38	FZD1_HUMAN	L	313	ENSP00000287934:P313L	ENSP00000287934:P313L	P	+	2	0	FZD1	90733069	0.240000	0.23847	0.934000	0.37439	0.827000	0.46813	2.468000	0.45102	2.396000	0.81511	0.511000	0.50034	CCC		0.612	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		T	90895133	C	T	90895133	3	4	350	1	0	0	0	0	1	0	0	0	6128	623	22	2	940	2	FZD1	7	90895133	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	46737803	90895133	68243530	45	19024											
TRIM56	81844	genome.wustl.edu	37	7	100732293	100732293	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:100732293G>C	ENST00000306085.6	+	3	1997	c.1700G>C	c.(1699-1701)aGc>aCc	p.S567T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	567					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCTCCGCTAGCGCACGGCTC	0.697																																					Ovarian(89;1092 1379 22756 38989 39611)											0			7											55	60	59					7																	100732293		2118	4220	6338	100519013	SO:0001583	missense	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1700G>C	7.37:g.100732293G>C	ENSP00000305161:p.Ser567Thr		100519013	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	2.349	-0.349382	0.05173	.	.	ENSG00000169871	ENST00000306085	T	0.29917	1.55	3.76	1.32	0.21799	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.22941	-1.0202	9	0.39692	T	0.17	.	3.8394	0.08908	0.1944:0.2199:0.5857:0.0	.	567	Q9BRZ2	TRI56_HUMAN	T	567	ENSP00000305161:S567T	ENSP00000305161:S567T	S	+	2	0	TRIM56	100519013	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.479000	0.22228	0.297000	0.22615	0.591000	0.81541	AGC		0.697	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		C	100732293	G	C	100732293	3	2	350	1	0	0	0	0	1	0	0	0	16530	971	34	3	1702	3	TRIM56	7	100732293	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	9837160	100732293	58406370	46	19025											
CTAGE4	100128553	genome.wustl.edu	37	7	143882723	143882723	+	Silent	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:143882723T>C	ENST00000486333.1	+	1	2165	c.2127T>C	c.(2125-2127)gaT>gaC	p.D709D		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	709	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TTCCAGTGGATACAAGGGGCC	0.522																																																0			7											12	14	13					7																	143882723		658	1506	2164	143513656	SO:0001819	synonymous_variant	0			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2127T>C	7.37:g.143882723T>C			143513656	A8K871|O95046	RNA	SNP	ENST00000486333.1	37	CCDS55176.1																																																																																				0.522	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349970.1	NM_198495		C	143882723	T	C	143882723	2	2	350	1	0	0	0	0	0	0	0	1	3993	1403	49	4		4	CTAGE4	7	143882723	Silent	SNP	T	TCGA-29-1777-01A-01W-0639-09	43150430	143882723	15255940	47	19026											
DDHD2	23259	genome.wustl.edu	37	8	38107278	38107278	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:38107278G>T	ENST00000397166.2	+	11	1826	c.1301G>T	c.(1300-1302)aGa>aTa	p.R434I	DDHD2_ENST00000517385.1_Missense_Mutation_p.R53I|DDHD2_ENST00000520272.2_Missense_Mutation_p.R434I|DDHD2_ENST00000529845.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	434	SAM.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTAGGACCAAGAAAGAAGATA	0.343																																																0			8											75	71	72					8																	38107278		2203	4300	6503	38226435	SO:0001583	missense	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1301G>T	8.37:g.38107278G>T	ENSP00000380352:p.Arg434Ile		38226435	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105997	0.94292	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T;T	0.56941	0.43;0.43;0.43	5.5	5.5	0.81552	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81607	0.4858	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84221	0.0461	10	0.35671	T	0.21	-21.4359	18.7617	0.91855	0.0:0.0:1.0:0.0	.	246;434	B4DSR3;O94830	.;DDHD2_HUMAN	I	434;434;246;53	ENSP00000380352:R434I;ENSP00000429932:R434I;ENSP00000429017:R53I	ENSP00000380352:R434I	R	+	2	0	DDHD2	38226435	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.415000	0.97375	2.744000	0.94065	0.655000	0.94253	AGA		0.343	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		T	38107278	G	T	38107278	3	4	350	1	0	0	0	0	1	0	0	0	4327	942	33	3	1401	3	DDHD2	8	38107278	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		38107278	108256744	48	19027											
CRISPLD1	83690	genome.wustl.edu	37	8	75898261	75898261	+	Silent	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:75898261A>C	ENST00000262207.4	+	2	507	c.39A>C	c.(37-39)acA>acC	p.T13T	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	13					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GAGTAACCACAGTGCTGTTCA	0.478																																																0			8											128	136	133					8																	75898261		2203	4300	6503	76060816	SO:0001819	synonymous_variant	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.39A>C	8.37:g.75898261A>C			76060816	B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	37	CCDS6219.1																																																																																				0.478	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		C	75898261	A	C	75898261	2	2	350	1	0	0	0	0	0	0	0	1	3882	175	7	5		5	CRISPLD1	8	75898261	Silent	SNP	A	TCGA-29-1777-01A-01W-0639-09	37790983	75898261	70465761	49	19028											
SLC7A13	157724	genome.wustl.edu	37	8	87241992	87241992	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:87241992C>G	ENST00000297524.3	-	1	618	c.515G>C	c.(514-516)aGc>aCc	p.S172T	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.S172T	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	172						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GGAAATGAAGCTAAGTATGGA	0.418																																																0			8											141	125	130					8																	87241992		2203	4300	6503	87311108	SO:0001583	missense	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.515G>C	8.37:g.87241992C>G	ENSP00000297524:p.Ser172Thr		87311108	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	4.034	0.003838	0.07866	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89415	-2.51;-2.51	4.87	3.97	0.46021	Amino acid permease domain (1);	0.895934	0.09690	N	0.768499	D	0.85141	0.5629	L	0.40543	1.245	0.09310	N	1	B;P	0.39044	0.13;0.656	B;B	0.41894	0.064;0.369	T	0.73902	-0.3836	10	0.33141	T	0.24	.	8.179	0.31300	0.1795:0.6469:0.1736:0.0	.	172;172	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	T	172	ENSP00000297524:S172T;ENSP00000410982:S172T	ENSP00000297524:S172T	S	-	2	0	SLC7A13	87311108	0.022000	0.18835	0.019000	0.16419	0.045000	0.14185	0.962000	0.29280	1.363000	0.46019	0.609000	0.83330	AGC		0.418	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		G	87241992	C	G	87241992	3	3	350	1	0	0	0	0	1	0	0	0	14698	797	28	3	913	3	SLC7A13	8	87241992	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	11343731	87241992	59122030	50	19029											
ZFPM2	23414	genome.wustl.edu	37	8	106814620	106814620	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:106814620T>A	ENST00000407775.2	+	8	2560	c.2310T>A	c.(2308-2310)tgT>tgA	p.C770*	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.C638*|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.C638*|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.C501*	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	770					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATAATCCTTGTACCTCCACTC	0.468																																																0			8											61	60	61					8																	106814620		1945	4149	6094	106883796	SO:0001587	stop_gained	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2310T>A	8.37:g.106814620T>A	ENSP00000384179:p.Cys770*		106883796	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	38	6.748862	0.97809	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	5.72	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	8.4023	0.32594	0.0:0.2802:0.0:0.7198	.	.	.	.	X	770;638;638;501	.	ENSP00000367733:C501X	C	+	3	2	ZFPM2	106883796	0.979000	0.34478	0.997000	0.53966	0.982000	0.71751	0.141000	0.16076	0.131000	0.18576	0.459000	0.35465	TGT		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			A	106814620	T	A	106814620	4	1	350	1	0	0	0	0	0	1	0	0	17658	1644	57	5	2340	5	ZFPM2	8	106814620	Nonsense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09	19572628	106814620	39549402	51	19030											
TMEM74	157753	genome.wustl.edu	37	8	109797180	109797180	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:109797180G>C	ENST00000297459.3	-	2	326	c.148C>G	c.(148-150)Cca>Gca	p.P50A	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	50					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GTTGCTCTTGGGGTGGATGCA	0.542																																																0			8											97	96	96					8																	109797180		2203	4300	6503	109866356	SO:0001583	missense	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.148C>G	8.37:g.109797180G>C	ENSP00000297459:p.Pro50Ala		109866356		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.239875	0.01493	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.71	4.83	0.62350	.	0.305497	0.32430	N	0.006116	T	0.20495	0.0493	N	0.24115	0.695	0.09310	N	1	B	0.27068	0.167	B	0.31101	0.124	T	0.26360	-1.0105	9	0.08599	T	0.76	-1.259	6.0608	0.19837	0.072:0.1345:0.6544:0.1392	.	50	Q96NL1	TMM74_HUMAN	A	50	.	ENSP00000297459:P50A	P	-	1	0	TMEM74	109866356	0.007000	0.16637	0.006000	0.13384	0.016000	0.09150	0.825000	0.27393	1.410000	0.46936	0.655000	0.94253	CCA		0.542	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		C	109797180	G	C	109797180	3	2	350	1	0	0	0	0	1	0	0	0	16202	1232	43	3	773	3	TMEM74	8	109797180	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	2982560	109797180	36566842	52	19031											
TG	7038	genome.wustl.edu	37	8	133913619	133913619	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:133913619T>C	ENST00000220616.4	+	16	3495	c.3455T>C	c.(3454-3456)cTc>cCc	p.L1152P	TG_ENST00000377869.1_Missense_Mutation_p.L1152P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1152	Thyroglobulin type-1 10. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCAATGTGCTCAAGAGTGGA	0.607																																																0			8											80	76	77					8																	133913619		2203	4300	6503	133982801	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3455T>C	8.37:g.133913619T>C	ENSP00000220616:p.Leu1152Pro		133982801	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380529	0.24944	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.66995	-0.24;-0.24	5.12	5.12	0.69794	Thyroglobulin type-1 (2);	0.755768	0.10987	N	0.612016	T	0.71854	0.3389	M	0.83603	2.65	0.23192	N	0.99815	B	0.24258	0.1	B	0.28916	0.096	T	0.63440	-0.6637	10	0.41790	T	0.15	.	12.8933	0.58084	0.0:0.0:0.0:1.0	.	1152	P01266	THYG_HUMAN	P	1152	ENSP00000367100:L1152P;ENSP00000220616:L1152P	ENSP00000220616:L1152P	L	+	2	0	TG	133982801	0.251000	0.23961	0.286000	0.24833	0.379000	0.30106	3.864000	0.56024	1.926000	0.55796	0.533000	0.62120	CTC		0.607	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133913619	T	C	133913619	3	2	350	1	0	0	0	0	1	0	0	0	15813	1551	54	4	3517	4	TG	8	133913619	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09	24116439	133913619	12450403	53	19032											
CYP11B1	1584	genome.wustl.edu	37	8	143961189	143961189	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:143961189G>C	ENST00000292427.4	-	1	73	c.41C>G	c.(40-42)cCc>cGc	p.P14R	CYP11B1_ENST00000517471.1_Missense_Mutation_p.P14R|CYP11B1_ENST00000377675.3_Missense_Mutation_p.P14R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	14					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGACAGCCAGGGCACTGCCAT	0.627									Familial Hyperaldosteronism type I																																							0			8											113	110	111					8																	143961189		2203	4300	6503	143958191	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.41C>G	8.37:g.143961189G>C	ENSP00000292427:p.Pro14Arg		143958191	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	G	8.407	0.843251	0.16963	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;D;T	0.83591	-0.93;-1.74;-1.29	2.96	2.02	0.26589	.	0.563114	0.13471	N	0.385392	T	0.72669	0.3489	L	0.41824	1.3	0.09310	N	1	B;B;B	0.29531	0.094;0.155;0.247	B;B;B	0.28139	0.059;0.059;0.086	T	0.57429	-0.7813	10	0.26408	T	0.33	.	7.4363	0.27158	0.0:0.0:0.7405:0.2595	.	14;14;14	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	R	14	ENSP00000292427:P14R;ENSP00000428043:P14R;ENSP00000366903:P14R	ENSP00000292427:P14R	P	-	2	0	CYP11B1	143958191	0.052000	0.20516	0.073000	0.20177	0.020000	0.10135	2.141000	0.42168	0.471000	0.27319	0.305000	0.20034	CCC		0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			C	143961189	G	C	143961189	3	2	350	1	0	0	0	0	1	0	0	0	4145	1232	43	3	1506	3	CYP11B1	8	143961189	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	10047570	143961189	2402833	54	19033											
PARP10	84875	genome.wustl.edu	37	8	145059236	145059236	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:145059236G>C	ENST00000313028.7	-	5	1028	c.934C>G	c.(934-936)Ccc>Gcc	p.P312A	PARP10_ENST00000525773.1_Missense_Mutation_p.P324A|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Missense_Mutation_p.P312A	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	312					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCACCATGGGACCTGTCCTC	0.627																																																0			8											79	78	79					8																	145059236		2203	4300	6503	145131224	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.934C>G	8.37:g.145059236G>C	ENSP00000325618:p.Pro312Ala		145131224	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105567	0.20632	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.33654	2.91;2.88;2.88;1.4	2.53	1.58	0.23477	.	.	.	.	.	T	0.23094	0.0558	L	0.43923	1.385	0.09310	N	1	P;P;B	0.38504	0.634;0.634;0.252	B;B;B	0.30105	0.081;0.111;0.034	T	0.09662	-1.0664	9	0.30078	T	0.28	.	6.0788	0.19931	0.0:0.0:0.6961:0.3039	.	324;312;312	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	A	312;18;312;324;227	ENSP00000431620:P312A;ENSP00000325618:P312A;ENSP00000434776:P324A;ENSP00000314320:P227A	ENSP00000325618:P312A	P	-	1	0	PARP10	145131224	0.001000	0.12720	0.006000	0.13384	0.079000	0.17450	0.737000	0.26144	0.245000	0.21373	0.177000	0.17058	CCC		0.627	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		C	145059236	G	C	145059236	3	2	350	1	0	0	0	0	1	0	0	0	11455	1174	41	3	2171	3	PARP10	8	145059236	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	1098047	145059236	1304786	55	19034											
NFX1	4799	genome.wustl.edu	37	9	33295023	33295023	+	Missense_Mutation	SNP	G	G	T	rs372624000		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr9:33295023G>T	ENST00000379540.3	+	2	693	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	NFX1_ENST00000318524.6_Missense_Mutation_p.V211L|NFX1_ENST00000379521.4_Missense_Mutation_p.V211L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	211					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TACCAAACCTGTGGGGGTTTT	0.483																																																0			9											88	93	91					9																	33295023		2203	4300	6503	33285023	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.631G>T	9.37:g.33295023G>T	ENSP00000368856:p.Val211Leu		33285023	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	9.560	1.118308	0.20877	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.48522	0.81;0.81;0.81	5.48	2.55	0.30701	.	0.623389	0.15289	N	0.270287	T	0.24661	0.0598	N	0.12182	0.205	0.20873	N	0.999838	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001	B;B;B;B;B	0.06405	0.001;0.0;0.0;0.002;0.001	T	0.23404	-1.0189	10	0.08381	T	0.77	.	9.0712	0.36493	0.0795:0.4246:0.496:0.0	.	211;95;211;211;211	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	L	211	ENSP00000368856:V211L;ENSP00000368836:V211L;ENSP00000317695:V211L	ENSP00000317695:V211L	V	+	1	0	NFX1	33285023	0.247000	0.23920	0.922000	0.36590	0.858000	0.48976	0.055000	0.14229	0.250000	0.21479	0.551000	0.68910	GTG		0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			T	33295023	G	T	33295023	3	4	350	1	0	0	0	0	1	0	0	0	10387	1377	48	3	637	3	NFX1	9	33295023	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		33295023	107918408	56	19035											
SPTLC1	10558	genome.wustl.edu	37	9	94877597	94877597	+	Splice_Site	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr9:94877597T>C	ENST00000262554.2	-	1	61	c.56A>G	c.(55-57)gAg>gGg	p.E19G	SPTLC1_ENST00000337841.4_Splice_Site_p.E19G|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	19					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GGAGCCCACCTCGTAAAGCGC	0.672																																																0			9											33	37	36					9																	94877597		2202	4296	6498	93917418	SO:0001630	splice_region_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.57+1A>G	9.37:g.94877597T>C			93917418	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.896410	0.52121	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95001	-3.58;-2.12	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	N	0.20881	0.62	0.80722	D	1	B;P;B;B	0.36465	0.411;0.554;0.112;0.087	B;B;B;B	0.35550	0.205;0.205;0.051;0.087	D	0.88360	0.2987	10	0.34782	T	0.22	-26.4507	13.4591	0.61217	0.0:0.0:0.0:1.0	.	19;19;14;19	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	G	19	ENSP00000262554:E19G;ENSP00000337635:E19G	ENSP00000262554:E19G	E	-	2	0	SPTLC1	93917418	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	5.754000	0.68743	2.013000	0.59113	0.397000	0.26171	GAG		0.672	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	Missense_Mutation	C	94877597	T	C	94877597	5	2	350	1	0	0	0	0	0	0	1	0	15125	1565	54	4	1434	4	SPTLC1	9	94877597	Splice_Site	SNP	T	TCGA-29-1777-01A-01W-0639-09	61582574	94877597	46335834	57	19036											
OLFM1	10439	genome.wustl.edu	37	9	137987745	137987745	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr9:137987745C>G	ENST00000371793.3	+	3	587	c.336C>G	c.(334-336)gaC>gaG	p.D112E	OLFM1_ENST00000277415.11_Missense_Mutation_p.D94E|OLFM1_ENST00000392991.4_Missense_Mutation_p.D112E|OLFM1_ENST00000371796.3_Missense_Mutation_p.D85E|OLFM1_ENST00000252854.4_Missense_Mutation_p.D94E	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	112					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AGGTCTTGGACAGGCGGACCC	0.507																																																0			9											156	134	141					9																	137987745		2203	4300	6503	137127566	SO:0001583	missense	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.336C>G	9.37:g.137987745C>G	ENSP00000360858:p.Asp112Glu		137127566	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	c	14.46	2.541410	0.45280	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000392991;ENST00000371793;ENST00000539877	T;T;T;T;T;T;T;T	0.46063	2.8;0.88;2.8;0.88;0.88;2.8;0.88;0.88	4.69	4.69	0.59074	.	0.049334	0.85682	D	0.000000	T	0.42494	0.1205	L	0.38838	1.175	0.52501	D	0.999959	P;B;B;P	0.48016	0.904;0.3;0.01;0.767	P;B;B;P	0.50082	0.63;0.2;0.053;0.545	T	0.14172	-1.0482	10	0.11182	T	0.66	.	17.6729	0.88223	0.0:1.0:0.0:0.0	.	112;112;94;94	Q99784;Q99784-2;Q6IMJ8;Q6IMJ7	NOE1_HUMAN;.;.;.	E	94;94;101;85;29;112;112;9	ENSP00000277415:D94E;ENSP00000252854:D94E;ENSP00000340318:D101E;ENSP00000360861:D85E;ENSP00000444296:D29E;ENSP00000376717:D112E;ENSP00000360858:D112E;ENSP00000443806:D9E	ENSP00000252854:D94E	D	+	3	2	OLFM1	137127566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.891000	0.56227	2.179000	0.69175	0.632000	0.83419	GAC		0.507	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		G	137987745	C	G	137987745	3	3	350	1	0	0	0	0	1	0	0	0	10852	477	17	3	292	3	OLFM1	9	137987745	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	43110148	137987745	3225686	58	19037											
ARL5B	221079	genome.wustl.edu	37	10	18957583	18957583	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:18957583A>G	ENST00000377275.3	+	3	465	c.232A>G	c.(232-234)Aac>Gac	p.N78D		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	78					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						ATCATCCTGGAACACATATTA	0.383																																																0			10											120	115	117					10																	18957583		2203	4300	6503	18997589	SO:0001583	missense	221079			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23052	protein-coding gene	gene with protein product		608909	"ADP-ribosylation factor-like 8"	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.232A>G	10.37:g.18957583A>G	ENSP00000366487:p.Asn78Asp		18997589		Missense_Mutation	SNP	ENST00000377275.3	37	CCDS7131.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673827	0.67928	.	.	ENSG00000165997	ENST00000377275	T	0.62232	0.04	5.83	5.83	0.93111	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	L	0.41124	1.26	0.80722	D	1	B	0.13594	0.008	B	0.17722	0.019	T	0.55068	-0.8198	10	0.87932	D	0	-20.4382	16.1968	0.82036	1.0:0.0:0.0:0.0	.	78	Q96KC2	ARL5B_HUMAN	D	78	ENSP00000366487:N78D	ENSP00000366487:N78D	N	+	1	0	ARL5B	18997589	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	9.335000	0.96500	2.225000	0.72522	0.533000	0.62120	AAC		0.383	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815		G	18957583	A	G	18957583	3	3	350	1	0	0	0	0	1	0	0	0	940	246	9	4	242	4	ARL5B	10	18957583	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09		18957583	116577164	59	19038											
PLXDC2	84898	genome.wustl.edu	37	10	20290882	20290882	+	Silent	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:20290882G>A	ENST00000377252.4	+	2	1132	c.291G>A	c.(289-291)ctG>ctA	p.L97L	PLXDC2_ENST00000377242.3_Silent_p.L97L	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	97					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACCTGCTGCTGGATGATGGGC	0.458																																																0			10											73	65	68					10																	20290882		2203	4300	6503	20330888	SO:0001819	synonymous_variant	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.291G>A	10.37:g.20290882G>A			20330888	Q96E59|Q96PD9|Q96SU9	Silent	SNP	ENST00000377252.4	37	CCDS7132.1																																																																																				0.458	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		A	20290882	G	A	20290882	2	1	350	1	0	0	0	0	0	0	0	1	12118	1335	47	2		2	PLXDC2	10	20290882	Silent	SNP	G	TCGA-29-1777-01A-01W-0639-09	1333299	20290882	115243865	60	19039											
C10orf71	118461	genome.wustl.edu	37	10	50530672	50530672	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:50530672G>A	ENST00000374144.3	+	3	370	c.82G>A	c.(82-84)Gag>Aag	p.E28K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E28K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	28										endometrium(1)	1						TGCAGACAGGGAGGTGAGCAG	0.552																																																0			10											41	45	43					10																	50530672		2163	4255	6418	50200678	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.82G>A	10.37:g.50530672G>A	ENSP00000363259:p.Glu28Lys		50200678	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336911	0.95758	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.56444	0.46;1.52	5.13	5.13	0.70059	.	0.000000	0.51477	D	0.000094	T	0.73009	0.3532	M	0.70275	2.135	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.76484	-0.2942	10	0.87932	D	0	.	18.5756	0.91154	0.0:0.0:1.0:0.0	.	28	Q711Q0-3	.	K	28	ENSP00000318713:E28K;ENSP00000363259:E28K	ENSP00000318713:E28K	E	+	1	0	C10orf71	50200678	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.273000	0.95719	2.396000	0.81511	0.557000	0.71058	GAG		0.552	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50530672	G	A	50530672	3	1	350	1	0	0	0	0	1	0	0	0	1614	1175	41	2	84	2	C10orf71	10	50530672	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	30239790	50530672	85004075	61	19040											
DNA2	1763	genome.wustl.edu	37	10	70229848	70229848	+	Silent	SNP	C	C	G	rs368283374		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:70229848C>G	ENST00000358410.3	-	2	197	c.147G>C	c.(145-147)gtG>gtC	p.V49V	DNA2_ENST00000399179.2_Silent_p.V49V|DNA2_ENST00000399180.2_Silent_p.V135V	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	49					ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGACTGCCAACACCAGGTACC	0.408																																																0			10											97	84	88					10																	70229848		1877	4110	5987	69899854	SO:0001819	synonymous_variant	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.147G>C	10.37:g.70229848C>G			69899854	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37																																																																																					0.408	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			G	70229848	C	G	70229848	2	3	350	1	0	0	0	0	0	0	0	1	4596	465	17	3		3	DNA2	10	70229848	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09	19699176	70229848	65304899	62	19041											
GLUD1	2746	genome.wustl.edu	37	10	88854398	88854398	+	Silent	SNP	C	C	A	rs140734189		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:88854398C>A	ENST00000277865.4	-	1	225	c.129G>T	c.(127-129)ccG>ccT	p.P43P	FAM35A_ENST00000298784.1_5'Flank|GLUD1_ENST00000537649.1_5'Flank|GLUD1_ENST00000544149.1_5'Flank|FAM35A_ENST00000298786.4_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	43					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ATGCCAGCCCCGGCTGCGGGG	0.761																																																0			10											15	20	19					10																	88854398		2101	4154	6255	88844378	SO:0001819	synonymous_variant	2746			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.129G>T	10.37:g.88854398C>A			88844378	B3KV55|B4DGN5|Q5TBU3	Silent	SNP	ENST00000277865.4	37	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	4.624	0.116014	0.08831	.	.	ENSG00000148672	ENST00000394415	.	.	.	3.86	-1.23	0.09465	.	.	.	.	.	T	0.62865	0.2463	.	.	.	0.35508	D	0.800337	.	.	.	.	.	.	T	0.71059	-0.4702	5	0.62326	D	0.03	.	11.6356	0.51202	0.0:0.2707:0.6425:0.0868	.	.	.	.	W	17	.	ENSP00000377937:G17W	G	-	1	0	GLUD1	88844378	1.000000	0.71417	0.006000	0.13384	0.052000	0.14988	3.467000	0.53078	-0.078000	0.12730	0.313000	0.20887	GGG		0.761	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		A	88854398	C	A	88854398	2	1	350	1	0	0	0	0	0	0	0	1	6476	639	23	3		3	GLUD1	10	88854398	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09	18624550	88854398	46680349	63	19042											
PDE6C	5146	genome.wustl.edu	37	10	95372521	95372526	+	In_Frame_Del	DEL	GGAGGA	GGAGGA	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	GGAGGA	GGAGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:95372521_95372526delGGAGGA	ENST00000371447.3	+	1	177_182	c.39_44delGGAGGA	c.(37-45)ctggaggag>ctg	p.EE14del		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	14					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGAAATACCTGGAGGAGAACCCTCAG	0.529																																																0			10																																								95362516	SO:0001651	inframe_deletion	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.39_44delGGAGGA	10.37:g.95372521_95372526delGGAGGA	ENSP00000360502:p.Glu14_Glu15del		95362511	A6NCR6|Q5VY29	In_Frame_Del	DEL	ENST00000371447.3	37	CCDS7429.1																																																																																				0.529	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		-	95372526	GGAGGA	-	95372521	7	5	350	1	0	1	0	1	0	0	0	0	11647	1335	47	0	41	0	PDE6C	10	95372521	In_Frame_Del	DEL	GGAGGA	TCGA-29-1777-01A-01W-0639-09	6518123	95372521	40162226	64	19043											
AVPI1	60370	genome.wustl.edu	37	10	99437682	99437682	+	Missense_Mutation	SNP	G	G	A	rs146044000		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:99437682G>A	ENST00000370626.3	-	3	955	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	130					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		CAGTTCCGGCGGATCCTGGCA	0.567																																																0			10											112	91	98					10																	99437682		2203	4300	6503	99427672	SO:0001583	missense	60370			AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.388C>T	10.37:g.99437682G>A	ENSP00000359660:p.Arg130Cys		99427672	Q53G32|Q9H2R9|Q9HBN9	Missense_Mutation	SNP	ENST00000370626.3	37	CCDS7470.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613686	0.87359	.	.	ENSG00000119986	ENST00000370626	T	0.50277	0.75	5.11	5.11	0.69529	.	.	.	.	.	T	0.50103	0.1596	L	0.27053	0.805	0.45239	D	0.998243	D	0.71674	0.998	P	0.56916	0.809	T	0.52275	-0.8597	9	0.87932	D	0	-5.4896	14.215	0.65788	0.0:0.0:1.0:0.0	.	130	Q5T686	AVPI1_HUMAN	C	130	ENSP00000359660:R130C	ENSP00000359660:R130C	R	-	1	0	AVPI1	99427672	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.140000	0.50585	2.815000	0.96918	0.561000	0.74099	CGC		0.567	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049736.1	NM_021732		A	99437682	G	A	99437682	3	1	350	1	0	0	0	0	1	0	0	0	1230	1116	39	1	59	1	AVPI1	10	99437682	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	4065161	99437682	36097065	65	19044											
SWAP70	23075	genome.wustl.edu	37	11	9735053	9735053	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr11:9735053G>T	ENST00000318950.6	+	3	384	c.281G>T	c.(280-282)tGt>tTt	p.C94F	SWAP70_ENST00000447399.2_Intron	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	94					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AATAGGATGTGTTGGACCCTC	0.353																																																0			11											82	86	85					11																	9735053		2201	4294	6495	9691629	SO:0001583	missense	23075			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.281G>T	11.37:g.9735053G>T	ENSP00000315630:p.Cys94Phe		9691629	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521017	0.85495	.	.	ENSG00000133789	ENST00000318950	T	0.25085	1.82	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.59925	-0.7362	10	0.87932	D	0	-9.2291	19.7341	0.96195	0.0:0.0:1.0:0.0	.	94	Q9UH65	SWP70_HUMAN	F	94	ENSP00000315630:C94F	ENSP00000315630:C94F	C	+	2	0	SWAP70	9691629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.465000	0.97660	2.672000	0.90937	0.650000	0.86243	TGT		0.353	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		T	9735053	G	T	9735053	3	4	350	1	0	0	0	0	1	0	0	0	15425	1377	48	3	291	3	SWAP70	11	9735053	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		9735053	125271463	66	19045											
LAG3	3902	genome.wustl.edu	37	12	6883999	6883999	+	Silent	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:6883999C>T	ENST00000203629.2	+	4	1083	c.750C>T	c.(748-750)aaC>aaT	p.N250N	LAG3_ENST00000441671.2_Silent_p.N250N	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	250	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATGGCTTCAACGTCTCCATCA	0.557																																																0			12											138	122	128					12																	6883999		2203	4300	6503	6754260	SO:0001819	synonymous_variant	3902				CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.750C>T	12.37:g.6883999C>T			6754260	A8K7T9|Q7Z643	Silent	SNP	ENST00000203629.2	37	CCDS8561.1																																																																																				0.557	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			T	6883999	C	T	6883999	2	4	350	1	0	0	0	0	0	0	0	1	8600	535	19	1		1	LAG3	12	6883999	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09		6883999	126967896	67	19046											
PIK3C2G	5288	genome.wustl.edu	37	12	18499692	18499692	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:18499692A>T	ENST00000266497.5	+	10	1585	c.1547A>T	c.(1546-1548)tAt>tTt	p.Y516F	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Y516F|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Y516F|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y516F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	516	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGCACTTCCTATCTAAATCCC	0.448																																																0			12											129	125	126					12																	18499692		1944	4134	6078	18390959	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1547A>T	12.37:g.18499692A>T	ENSP00000266497:p.Tyr516Phe		18390959	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.009319	0.00426	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.79454	1.55;-1.27;-1.27;0.21	3.98	-7.97	0.01139	Phosphoinositide 3-kinase, C2 (2);	5.290950	0.00166	N	0.000001	T	0.48259	0.1490	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.54084	-0.8346	10	0.10111	T	0.7	13.1677	0.415	0.00447	0.2711:0.2893:0.1713:0.2683	.	515;516;516	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	F	516	ENSP00000443850:Y516F;ENSP00000404845:Y516F;ENSP00000266497:Y516F;ENSP00000445381:Y516F	ENSP00000266497:Y516F	Y	+	2	0	PIK3C2G	18390959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.771000	0.04699	-2.948000	0.00294	-0.388000	0.06559	TAT		0.448	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18499692	A	T	18499692	3	4	350	1	0	0	0	0	1	0	0	0	11911	449	16	5	1585	5	PIK3C2G	12	18499692	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	11615693	18499692	115352203	68	19047											
SOX5	6660	genome.wustl.edu	37	12	23728640	23728640	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:23728640C>A	ENST00000451604.2	-	10	1398	c.1297G>T	c.(1297-1299)Gtc>Ttc	p.V433F	SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000546136.1_Missense_Mutation_p.V420F|SOX5_ENST00000545921.1_Missense_Mutation_p.V423F|SOX5_ENST00000396007.2_Missense_Mutation_p.V47F|SOX5_ENST00000309359.1_Missense_Mutation_p.V420F|SOX5_ENST00000537393.1_Missense_Mutation_p.V398F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	433					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCTGCTGGGACAGAGGCTTTG	0.478																																																0			12											136	138	137					12																	23728640		2203	4300	6503	23619907	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1297G>T	12.37:g.23728640C>A	ENSP00000398273:p.Val433Phe		23619907	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142456	0.57044	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.52	5.52	0.82312	.	0.119729	0.56097	D	0.000027	T	0.37128	0.0992	N	0.19112	0.55	0.80722	D	1	B;B;P	0.36837	0.137;0.136;0.571	B;B;B	0.34385	0.091;0.09;0.181	T	0.31668	-0.9935	10	0.54805	T	0.06	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	398;433;47	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	F	420;420;433;385;398;47;423	ENSP00000437487:V420F;ENSP00000308927:V420F;ENSP00000398273:V433F;ENSP00000439832:V398F;ENSP00000379328:V47F;ENSP00000443520:V423F	ENSP00000308927:V420F	V	-	1	0	SOX5	23619907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.452000	0.60054	2.605000	0.88082	0.591000	0.81541	GTC		0.478	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		A	23728640	C	A	23728640	3	1	350	1	0	0	0	0	1	0	0	0	14957	478	17	3	1018	3	SOX5	12	23728640	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	5228948	23728640	110123255	69	19048											
CASC1	55259	genome.wustl.edu	37	12	25272124	25272124	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:25272124C>A	ENST00000320267.9	-	11	1414	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L	CASC1_ENST00000537577.1_Missense_Mutation_p.V333L|CASC1_ENST00000395987.3_Missense_Mutation_p.V451L|CASC1_ENST00000545133.1_Missense_Mutation_p.V386L|CASC1_ENST00000354189.5_Missense_Mutation_p.V509L|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.V405L	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	445										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AAAAAGATTACATTCTCATGA	0.373																																																0			12											109	100	103					12																	25272124		2203	4300	6503	25163391	SO:0001583	missense	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1333G>T	12.37:g.25272124C>A	ENSP00000313141:p.Val445Leu		25163391	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.716260|2.716260	0.48622|0.48622	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000556006|ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	.|T;T;T;T;T	.|0.53423	.|0.62;1.23;1.22;0.63;0.63	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Casc1 domain (1);	.|0.130009	.|0.51477	.|D	.|0.000082	T|T	0.67692|0.67692	0.2920|0.2920	M|M	0.80422|0.80422	2.495|2.495	0.20489|0.20489	N|N	0.999893|0.999893	.|D;D;D;D;D	.|0.71674	.|0.992;0.992;0.998;0.994;0.992	.|P;P;D;P;P	.|0.66979	.|0.83;0.765;0.948;0.888;0.822	T|T	0.62058|0.62058	-0.6934|-0.6934	5|10	.|0.31617	.|T	.|0.26	-16.8995|-16.8995	15.328|15.328	0.74182|0.74182	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|333;386;509;445;451	.|F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.|.;.;.;CASC1_HUMAN;.	F|L	281|509;451;445;405;333;451;386;255	.|ENSP00000346126:V509L;ENSP00000379310:V451L;ENSP00000313141:V445L;ENSP00000379313:V405L;ENSP00000437373:V386L	.|ENSP00000313141:V445L	C|V	-|-	2|1	0|0	CASC1|CASC1	25163391|25163391	0.883000|0.883000	0.30277|0.30277	0.075000|0.075000	0.20258|0.20258	0.202000|0.202000	0.24057|0.24057	3.518000|3.518000	0.53451|0.53451	2.386000|2.386000	0.81285|0.81285	0.650000|0.650000	0.86243|0.86243	TGT|GTA		0.373	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		A	25272124	C	A	25272124	3	1	350	1	0	0	0	0	1	0	0	0	2660	478	17	3	837	3	CASC1	12	25272124	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	1543484	25272124	108579771	70	19049											
NELL2	4753	genome.wustl.edu	37	12	44913940	44913940	+	Missense_Mutation	SNP	C	C	T	rs372382047		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:44913940C>T	ENST00000429094.2	-	19	2752	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	NELL2_ENST00000437801.2_Missense_Mutation_p.E800K|NELL2_ENST00000333837.4_Missense_Mutation_p.E773K|NELL2_ENST00000452445.2_Missense_Mutation_p.E750K|NELL2_ENST00000549027.1_Missense_Mutation_p.E749K|NELL2_ENST00000395487.2_Missense_Mutation_p.E749K|NELL2_ENST00000551601.1_Missense_Mutation_p.E702K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	750	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGGCAGCACTCATTCTCTGGG	0.537																																																0			12						C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	89	74	79		2398,2248,2245,2317,2248	5.1	1	12		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NELL2	NM_001145107.1,NM_001145108.1,NM_001145109.1,NM_001145110.1,NM_006159.2	56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	800/867,750/817,749/816,773/840,750/817	44913940	1,13005	2203	4300	6503	43200207	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2248G>A	12.37:g.44913940C>T	ENSP00000390680:p.Glu750Lys		43200207	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840700	0.91197	0.0	1.16E-4	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.07	5.07	0.68467	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.80616	2.505	0.80722	D	1	D;D;P;P;D	0.65815	0.995;0.99;0.944;0.955;0.971	D;P;P;P;P	0.67103	0.949;0.902;0.572;0.698;0.902	D	0.83691	0.0177	10	0.23302	T	0.38	-17.4466	18.4463	0.90685	0.0:1.0:0.0:0.0	.	773;800;702;750;749	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	K	749;750;702;750;749;773;800	ENSP00000378866:E749K;ENSP00000390680:E750K;ENSP00000449332:E702K;ENSP00000394612:E750K;ENSP00000447927:E749K;ENSP00000327988:E773K;ENSP00000416341:E800K	ENSP00000327988:E773K	E	-	1	0	NELL2	43200207	1.000000	0.71417	0.989000	0.46669	0.930000	0.56654	6.086000	0.71352	2.325000	0.78763	0.650000	0.86243	GAG		0.537	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		T	44913940	C	T	44913940	3	4	350	1	0	0	0	0	1	0	0	0	10334	835	29	2	210	2	NELL2	12	44913940	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	19641816	44913940	88937955	71	19050											
AQP6	363	genome.wustl.edu	37	12	50367203	50367203	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:50367203C>A	ENST00000315520.5	+	1	584	c.247C>A	c.(247-249)Ccc>Acc	p.P83T	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	83					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CCACGCCAACCCCGCCGTGAC	0.672																																																0			12											54	55	55					12																	50367203		2203	4300	6503	48653470	SO:0001583	missense	363			AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"Ion channels / Aquaporins"	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.247C>A	12.37:g.50367203C>A	ENSP00000320247:p.Pro83Thr		48653470		Missense_Mutation	SNP	ENST00000315520.5	37	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102960	0.76983	.	.	ENSG00000086159	ENST00000315520	D	0.99311	-5.73	4.93	4.93	0.64822	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.000000	0.53938	D	0.000058	D	0.99782	0.9909	H	0.99890	4.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96473	0.9350	10	0.87932	D	0	-13.8653	17.287	0.87145	0.0:1.0:0.0:0.0	.	83	Q13520	AQP6_HUMAN	T	83	ENSP00000320247:P83T	ENSP00000320247:P83T	P	+	1	0	AQP6	48653470	1.000000	0.71417	0.998000	0.56505	0.612000	0.37316	5.783000	0.68982	2.459000	0.83118	0.561000	0.74099	CCC		0.672	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		A	50367203	C	A	50367203	3	1	350	1	0	0	0	0	1	0	0	0	830	623	22	3	249	3	AQP6	12	50367203	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	5453263	50367203	83484692	72	19051											
POSTN	10631	genome.wustl.edu	37	13	38171407	38171407	+	Silent	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr13:38171407A>G	ENST00000379747.4	-	2	249	c.132T>C	c.(130-132)tgT>tgC	p.C44C	POSTN_ENST00000541481.1_Silent_p.C44C|POSTN_ENST00000379742.4_Silent_p.C44C|POSTN_ENST00000379749.4_Silent_p.C44C|POSTN_ENST00000541179.1_Silent_p.C44C|POSTN_ENST00000379743.4_Silent_p.C44C	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	44	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTTGAAGGGCACAGACATTTG	0.358																																																0			13											91	85	87					13																	38171407		2203	4300	6503	37069407	SO:0001819	synonymous_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.132T>C	13.37:g.38171407A>G			37069407	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	CCDS9364.1																																																																																				0.358	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		G	38171407	A	G	38171407	2	3	350	1	0	0	0	0	0	0	0	1	12259	157	6	4		4	POSTN	13	38171407	Silent	SNP	A	TCGA-29-1777-01A-01W-0639-09		38171407	76998471	73	19052											
TBC1D4	9882	genome.wustl.edu	37	13	75884231	75884231	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr13:75884231C>G	ENST00000377636.3	-	14	2786	c.2440G>C	c.(2440-2442)Gag>Cag	p.E814Q	TBC1D4_ENST00000425511.1_Missense_Mutation_p.E31Q|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E751Q|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E806Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	814					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGCGGTTCCTCCTCCATGGTT	0.493																																																0			13											69	63	65					13																	75884231		1875	4103	5978	74782232	SO:0001583	missense	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2440G>C	13.37:g.75884231C>G	ENSP00000366863:p.Glu814Gln		74782232	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703500	0.68501	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511;ENST00000413735	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;1.82	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.47710	0.1460	L	0.50919	1.6	0.40778	D	0.983143	B;B;B;B	0.33448	0.169;0.371;0.203;0.412	B;B;B;B	0.34242	0.086;0.141;0.142;0.178	T	0.36504	-0.9745	10	0.31617	T	0.26	-31.8528	20.3409	0.98764	0.0:1.0:0.0:0.0	.	31;751;806;814	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	Q	814;806;751;31;263	ENSP00000366863:E814Q;ENSP00000395986:E806Q;ENSP00000366852:E751Q;ENSP00000390654:E31Q;ENSP00000396932:E263Q	ENSP00000366852:E751Q	E	-	1	0	TBC1D4	74782232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.558000	0.67319	2.814000	0.96858	0.655000	0.94253	GAG		0.493	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		G	75884231	C	G	75884231	3	3	350	1	0	0	0	0	1	0	0	0	15622	864	30	3	1488	3	TBC1D4	13	75884231	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	37712824	75884231	39285647	74	19053											
ITGBL1	9358	genome.wustl.edu	37	13	102235641	102235641	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr13:102235641C>T	ENST00000376180.3	+	6	1022	c.803C>T	c.(802-804)aCc>aTc	p.T268I	ITGBL1_ENST00000376162.3_Missense_Mutation_p.T175I|ITGBL1_ENST00000545560.2_Missense_Mutation_p.T127I	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	268	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATGGGGACACCTGTGAATGT	0.463																																																0			13											268	253	258					13																	102235641		2203	4300	6503	101033642	SO:0001583	missense	9358			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.803C>T	13.37:g.102235641C>T	ENSP00000365351:p.Thr268Ile		101033642	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448687	0.84101	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92397	-3.03;-3.03;-3.03	5.07	5.07	0.68467	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	L	0.52266	1.64	0.80722	D	1	D;D	0.76494	0.978;0.999	D;D	0.87578	0.947;0.998	D	0.94846	0.8009	10	0.54805	T	0.06	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	127;268	B3KTP1;O95965	.;ITGBL_HUMAN	I	268;176;127;127;175	ENSP00000365351:T268I;ENSP00000439903:T127I;ENSP00000365332:T175I	ENSP00000365332:T175I	T	+	2	0	ITGBL1	101033642	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.342000	0.79310	2.518000	0.84900	0.591000	0.81541	ACC		0.463	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		T	102235641	C	T	102235641	3	4	350	1	0	0	0	0	1	0	0	0	7902	507	18	2	825	2	ITGBL1	13	102235641	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	26351410	102235641	12934237	75	19054											
RASA3	22821	genome.wustl.edu	37	13	114780758	114780758	+	Silent	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr13:114780758A>G	ENST00000334062.7	-	14	1453	c.1332T>C	c.(1330-1332)tcT>tcC	p.S444S	RASA3_ENST00000389544.4_Silent_p.S412S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	444	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGCTCACCCCAGACTCAGTGA	0.637																																																0			13											122	106	111					13																	114780758		2203	4300	6503	113798860	SO:0001819	synonymous_variant	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1332T>C	13.37:g.114780758A>G			113798860	A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	CCDS32016.1																																																																																				0.637	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		G	114780758	A	G	114780758	2	3	350	1	0	0	0	0	0	0	0	1	13065	175	7	4		4	RASA3	13	114780758	Silent	SNP	A	TCGA-29-1777-01A-01W-0639-09	12545117	114780758	389120	76	19055											
MYH7	4625	genome.wustl.edu	37	14	23886201	23886201	+	Splice_Site	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:23886201T>C	ENST00000355349.3	-	33	4682	c.4520A>G	c.(4519-4521)gAg>gGg	p.E1507G	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1507					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGAGATCTCCTCTGTGTGGGG	0.587																																																0			14											101	97	99					14																	23886201		2203	4300	6503	22956041	SO:0001630	splice_region_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4520-1A>G	14.37:g.23886201T>C			22956041	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117537	0.77323	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79247	-1.25	5.01	5.01	0.66863	Myosin tail (1);	.	.	.	.	D	0.84692	0.5528	M	0.88979	2.995	0.80722	D	1	P	0.35481	0.504	B	0.43018	0.405	D	0.87308	0.2310	9	0.87932	D	0	.	14.8886	0.70590	0.0:0.0:0.0:1.0	.	1507	P12883	MYH7_HUMAN	G	1507;1512	ENSP00000347507:E1507G	ENSP00000347507:E1507G	E	-	2	0	MYH7	22956041	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.801000	0.69115	2.099000	0.63709	0.482000	0.46254	GAG		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	Missense_Mutation	C	23886201	T	C	23886201	5	2	350	1	0	0	0	0	0	0	1	0	10039	1565	54	4	1319	4	MYH7	14	23886201	Splice_Site	SNP	T	TCGA-29-1777-01A-01W-0639-09		23886201	83463339	77	19056											
MYH7	4625	genome.wustl.edu	37	14	23892773	23892773	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:23892773C>G	ENST00000355349.3	-	24	3244	c.3082G>C	c.(3082-3084)Gag>Cag	p.E1028Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1028					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTTGCTGCTCCAGCTTGACT	0.532																																																0			14											213	202	206					14																	23892773		2203	4300	6503	22962613	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3082G>C	14.37:g.23892773C>G	ENSP00000347507:p.Glu1028Gln		22962613	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495760	0.85069	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.86497	-2.13	5.06	5.06	0.68205	.	.	.	.	.	D	0.95541	0.8551	H	0.94183	3.505	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96474	0.9351	9	0.72032	D	0.01	.	18.6094	0.91279	0.0:1.0:0.0:0.0	.	1028	P12883	MYH7_HUMAN	Q	1028	ENSP00000347507:E1028Q	ENSP00000347507:E1028Q	E	-	1	0	MYH7	22962613	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.489000	0.81451	2.638000	0.89438	0.655000	0.94253	GAG		0.532	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		G	23892773	C	G	23892773	3	3	350	1	0	0	0	0	1	0	0	0	10039	864	30	3	2793	3	MYH7	14	23892773	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	6572	23892773	83456767	78	19057											
CPNE6	9362	genome.wustl.edu	37	14	24545435	24545435	+	Silent	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:24545435C>T	ENST00000397016.2	+	12	1313	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	CPNE6_ENST00000216775.2_Silent_p.P334P|CPNE6_ENST00000537691.1_Silent_p.P389P	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	334	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCCGACAGCCCAACCACTACC	0.652																																																0			14											60	58	59					14																	24545435		2203	4300	6503	23615275	SO:0001819	synonymous_variant	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1002C>T	14.37:g.24545435C>T			23615275	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	CCDS9607.1																																																																																				0.652	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			T	24545435	C	T	24545435	2	4	350	1	0	0	0	0	0	0	0	1	3816	581	21	2		2	CPNE6	14	24545435	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09	652662	24545435	82804105	79	19058											
TM9SF1	10548	genome.wustl.edu	37	14	24658752	24658752	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:24658752delC	ENST00000261789.4	-	6	2048	c.1690delG	c.(1690-1692)gtafs	p.V564fs	RP11-468E2.2_ENST00000561419.1_Frame_Shift_Del_p.Q100fs|TM9SF1_ENST00000524835.1_Frame_Shift_Del_p.V477fs|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000528669.1_Frame_Shift_Del_p.V547fs|TM9SF1_ENST00000556387.1_Frame_Shift_Del_p.V773fs|TM9SF1_ENST00000530611.1_Frame_Shift_Del_p.V773fs	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	564					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ACTGTCTGTACTGCCCCAGAC	0.507																																																0			14											84	86	85					14																	24658752		2203	4300	6503	23728592	SO:0001589	frameshift_variant	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1690delG	14.37:g.24658752delC	ENSP00000261789:p.Val564fs		23728592	D3DS65|Q86SZ6|Q96FI8	Frame_Shift_Del	DEL	ENST00000261789.4	37	CCDS9617.1																																																																																				0.507	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		-	24658752	C	-	24658752	7	5	350	1	0	1	0	1	0	0	0	0	15977	565	20	0	134	0	TM9SF1	14	24658752	Frame_Shift_Del	DEL	C	TCGA-29-1777-01A-01W-0639-09	113317	24658752	82690788	80	19059	28	2									
TM9SF1	10548	genome.wustl.edu	37	14	24658754	24658770	+	Frame_Shift_Del	DEL	GCCCCAGACATGTTGGA	GCCCCAGACATGTTGGA	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	GCCCCAGACATGTTGGA	GCCCCAGACATGTTGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:24658754_24658770delGCCCCAGACATGTTGGA	ENST00000261789.4	-	6	2030_2046	c.1672_1688delTCCAACATGTCTGGGGC	c.(1672-1689)tccaacatgtctggggcafs	p.SNMSGA558fs	RP11-468E2.2_ENST00000561419.1_Frame_Shift_Del_p.PTCLGQ95fs|TM9SF1_ENST00000524835.1_Frame_Shift_Del_p.SNMSGA471fs|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000528669.1_Frame_Shift_Del_p.SNMSGA541fs|TM9SF1_ENST00000556387.1_Frame_Shift_Del_p.SNMSGA767fs|TM9SF1_ENST00000530611.1_Frame_Shift_Del_p.SNMSGA767fs	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	558					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TGTCTGTACTGCCCCAGACATGTTGGAGCGCCGGGCA	0.512																																																0			14																																								23728610	SO:0001589	frameshift_variant	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1672_1688delTCCAACATGTCTGGGGC	14.37:g.24658754_24658770delGCCCCAGACATGTTGGA	ENSP00000261789:p.Ser558fs		23728594	D3DS65|Q86SZ6|Q96FI8	Frame_Shift_Del	DEL	ENST00000261789.4	37	CCDS9617.1																																																																																				0.512	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		-	24658770	GCCCCAGACATGTTGGA	-	24658754	7	5	350	1	0	1	0	1	0	0	0	0	15977	1319	46	0	136	0	TM9SF1	14	24658754	Frame_Shift_Del	DEL	GCCCCAGACATGTTGGA	TCGA-29-1777-01A-01W-0639-09	2	24658754	82690786	81	19060	28	2									
TM9SF1	10548	genome.wustl.edu	37	14	24658788	24658788	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:24658788A>C	ENST00000261789.4	-	6	2012	c.1654T>G	c.(1654-1656)Ttc>Gtc	p.F552V	RP11-468E2.2_ENST00000561419.1_Missense_Mutation_p.F88L|TM9SF1_ENST00000524835.1_Missense_Mutation_p.F465V|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000528669.1_Missense_Mutation_p.F535V|TM9SF1_ENST00000556387.1_Missense_Mutation_p.F761V|TM9SF1_ENST00000530611.1_Missense_Mutation_p.F761V	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	552					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GCATAATAGAAAACTGAGTAG	0.527																																																0			14											70	75	73					14																	24658788		2203	4300	6503	23728628	SO:0001583	missense	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1654T>G	14.37:g.24658788A>C	ENSP00000261789:p.Phe552Val		23728628	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	CCDS9617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.1|28.1	4.887938|4.887938	0.91814|0.91814	.|.	.|.	ENSG00000100926|ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000532632|ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611	T|T;T;T;T;T	0.54675|0.44482	0.56|0.92;0.92;0.92;0.92;0.92	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.57873|0.57873	0.2083|0.2083	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|P	.|0.38677	.|0.642	.|P	.|0.48488	.|0.579	T|T	0.60485|0.60485	-0.7254|-0.7254	8|10	0.87932|0.59425	D|D	0|0.04	-19.0519|-19.0519	14.7743|14.7743	0.69713|0.69713	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|552	.|O15321	.|TM9S1_HUMAN	C|V	119|552;535;761;465;761	ENSP00000436486:F119C|ENSP00000261789:F552V;ENSP00000432997:F535V;ENSP00000451949:F761V;ENSP00000434387:F465V;ENSP00000433967:F761V	ENSP00000436486:F119C|ENSP00000433967:F761V	F|F	-|-	2|1	0|0	TM9SF1|TM9SF1;RP11-468E2.1	23728628|23728628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.063000|6.063000	0.71162|0.71162	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTT|TTC		0.527	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		C	24658788	A	C	24658788	3	2	350	1	0	0	0	0	1	0	0	0	15977	14	1	5	170	5	TM9SF1	14	24658788	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	34	24658788	82690752	82	19061											
MDGA2	161357	genome.wustl.edu	37	14	47389240	47389240	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:47389240A>C	ENST00000399232.2	-	10	2370	c.2006T>G	c.(2005-2007)gTt>gGt	p.V669G	MDGA2_ENST00000426342.1_Missense_Mutation_p.V440G|MDGA2_ENST00000439988.3_Missense_Mutation_p.V738G|MDGA2_ENST00000357362.3_Missense_Mutation_p.V440G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	669	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCGGTATGCAACAATCCGATC	0.418																																																0			14											125	116	119					14																	47389240		1905	4123	6028	46458990	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2006T>G	14.37:g.47389240A>C	ENSP00000382178:p.Val669Gly		46458990	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	A	13.77	2.337616	0.41398	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.17	5.17	0.71159	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.197582	0.24542	U	0.037629	T	0.42675	0.1213	L	0.36672	1.1	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.25813	-1.0121	10	0.28530	T	0.3	.	13.2611	0.60106	1.0:0.0:0.0:0.0	.	440;669	F6W3S7;Q7Z553	.;MDGA2_HUMAN	G	669;440;738;440	ENSP00000400011:V669G;ENSP00000405456:V440G;ENSP00000382178:V738G;ENSP00000349925:V440G	ENSP00000349925:V440G	V	-	2	0	MDGA2	46458990	1.000000	0.71417	0.996000	0.52242	0.469000	0.32828	6.945000	0.75947	2.087000	0.62958	0.482000	0.46254	GTT		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		C	47389240	A	C	47389240	3	2	350	1	0	0	0	0	1	0	0	0	9407	43	2	5	896	5	MDGA2	14	47389240	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	22730452	47389240	59960300	83	19062											
SPTB	6710	genome.wustl.edu	37	14	65260335	65260335	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:65260335delA	ENST00000389721.5	-	13	2078	c.2046delT	c.(2044-2046)tttfs	p.F682fs	SPTB_ENST00000556626.1_Frame_Shift_Del_p.F682fs|SPTB_ENST00000389722.3_Frame_Shift_Del_p.F682fs|SPTB_ENST00000389720.3_Frame_Shift_Del_p.F682fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.F682fs	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	682					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCTCATCCTCAAAGGCCTTGT	0.562																																																0			14											99	72	81					14																	65260335		2203	4300	6503	64330088	SO:0001589	frameshift_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2046delT	14.37:g.65260335delA	ENSP00000374371:p.Phe682fs		64330088	Q15510|Q15519	Frame_Shift_Del	DEL	ENST00000389721.5	37	CCDS32100.1																																																																																				0.562	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			-	65260335	A	-	65260335	7	5	350	1	0	1	0	1	0	0	0	0	15120	127	5	0	5101	0	SPTB	14	65260335	Frame_Shift_Del	DEL	A	TCGA-29-1777-01A-01W-0639-09	17871095	65260335	42089205	84	19063											
VIPAR	63894	genome.wustl.edu	37	14	77907411	77907411	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:77907411C>A	ENST00000553888.1	-	11	1270	c.760G>T	c.(760-762)Gcg>Tcg	p.A254S	VIPAS39_ENST00000343765.2_Missense_Mutation_p.A254S|VIPAS39_ENST00000448935.2_Missense_Mutation_p.A205S|VIPAS39_ENST00000556412.1_Missense_Mutation_p.A280S|VIPAS39_ENST00000327028.4_Missense_Mutation_p.A241S|VIPAS39_ENST00000557658.1_Missense_Mutation_p.A254S	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	254					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											ACACTTACCGCAAGCTCTTCT	0.493																																																0			14											153	135	141					14																	77907411		2203	4300	6503	76977164	SO:0001583	missense	63894			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.760G>T	14.37:g.77907411C>A	ENSP00000452181:p.Ala254Ser		76977164	B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109226	0.94292	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.974	T	0.62770	-0.6784	10	0.32370	T	0.25	-3.8154	18.3615	0.90376	0.0:1.0:0.0:0.0	.	205;254	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	S	254;254;241;254;205;280	ENSP00000339122:A254S;ENSP00000452181:A254S;ENSP00000313098:A241S;ENSP00000452191:A254S;ENSP00000404815:A205S;ENSP00000451857:A280S	ENSP00000313098:A241S	A	-	1	0	VIPAR	76977164	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.121000	0.64691	2.698000	0.92095	0.655000	0.94253	GCG		0.493	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		A	77907411	C	A	77907411	3	1	350	1	0	0	0	0	1	0	0	0	17168	710	25	3	761	3	VIPAR	14	77907411	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	12647076	77907411	29442129	85	19064											
MYO1E	4643	genome.wustl.edu	37	15	59470658	59470658	+	Silent	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr15:59470658C>G	ENST00000288235.4	-	19	2382	c.1983G>C	c.(1981-1983)tcG>tcC	p.S661S		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	661	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCATGTTGACCGACTGCAGCA	0.577																																																0			15											109	87	95					15																	59470658		2191	4291	6482	57257950	SO:0001819	synonymous_variant	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1983G>C	15.37:g.59470658C>G			57257950	Q14778	Silent	SNP	ENST00000288235.4	37	CCDS32254.1																																																																																				0.577	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		G	59470658	C	G	59470658	2	3	350	1	0	0	0	0	0	0	0	1	10072	639	23	3		3	MYO1E	15	59470658	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09		59470658	43060734	86	19065											
GP2	2813	genome.wustl.edu	37	16	20327317	20327317	+	Silent	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:20327317G>A	ENST00000381362.4	-	10	1547	c.1471C>T	c.(1471-1473)Cta>Tta	p.L491L	GP2_ENST00000302555.5_Silent_p.L488L|GP2_ENST00000381360.5_Silent_p.L344L|GP2_ENST00000341642.5_Silent_p.L341L|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	491					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACCCGGGCTAGGTCGATGGCC	0.468																																																0			16											116	108	111					16																	20327317		2203	4300	6503	20234818	SO:0001819	synonymous_variant	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1471C>T	16.37:g.20327317G>A			20234818	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	CCDS42128.1																																																																																				0.468	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		A	20327317	G	A	20327317	2	1	350	1	0	0	0	0	0	0	0	1	6582	991	35	2		2	GP2	16	20327317	Silent	SNP	G	TCGA-29-1777-01A-01W-0639-09		20327317	70027436	87	19066											
ACSM1	116285	genome.wustl.edu	37	16	20673154	20673154	+	Silent	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:20673154T>C	ENST00000307493.4	-	6	1021	c.954A>G	c.(952-954)tcA>tcG	p.S318S	ACSM1_ENST00000520010.1_Silent_p.S318S|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	318					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GATATATAGATGATACCCCCC	0.363																																																0			16											86	82	83					16																	20673154		2201	4300	6501	20580655	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.954A>G	16.37:g.20673154T>C			20580655	Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	T	5.128	0.209299	0.09757	.	.	ENSG00000166743	ENST00000524149	.	.	.	4.8	-9.59	0.00556	.	.	.	.	.	T	0.20901	0.0503	.	.	.	0.26979	N	0.965419	.	.	.	.	.	.	T	0.12708	-1.0537	4	.	.	.	.	4.8987	0.13764	0.0955:0.1941:0.4876:0.2228	.	.	.	.	R	24	.	.	H	-	2	0	ACSM1	20580655	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.667000	0.05274	-2.602000	0.00450	0.491000	0.48974	CAT		0.363	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		C	20673154	T	C	20673154	2	2	350	1	0	0	0	0	0	0	0	1	182	1451	51	4		4	ACSM1	16	20673154	Silent	SNP	T	TCGA-29-1777-01A-01W-0639-09	345837	20673154	69681599	88	19067											
SULT1A1	6817	genome.wustl.edu	37	16	28620166	28620166	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:28620166A>G	ENST00000395607.1	-	2	284	c.11T>C	c.(10-12)aTc>aCc	p.I4T	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.I4T|SULT1A1_ENST00000395609.1_Missense_Mutation_p.I4T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.I4T	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	4					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GGTGTCCTGGATCAGCTCCAT	0.602																																																0			16											63	64	64					16																	28620166		2197	4300	6497	28527667	SO:0001583	missense	6817			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.11T>C	16.37:g.28620166A>G	ENSP00000378971:p.Ile4Thr		28527667	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	.	3.247	-0.154184	0.06585	.	.	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	T;T;T	0.01446	4.88;4.88;4.88	2.5	-0.144	0.13440	.	1.832630	0.02404	N	0.080967	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.15484	0.013	T	0.45011	-0.9290	10	0.12430	T	0.62	.	3.1642	0.06530	0.5151:0.2458:0.0:0.239	.	4	P50225	ST1A1_HUMAN	T	4	ENSP00000321988:I4T;ENSP00000378972:I4T;ENSP00000378971:I4T	ENSP00000321988:I4T	I	-	2	0	SULT1A1	28527667	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.164000	0.09983	-0.047000	0.13423	0.254000	0.18369	ATC		0.602	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		G	28620166	A	G	28620166	3	3	350	1	0	0	0	0	1	0	0	0	15374	333	12	4	904	4	SULT1A1	16	28620166	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	7947012	28620166	61734587	89	19068											
SLC9A5	6553	genome.wustl.edu	37	16	67293782	67293782	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:67293782G>T	ENST00000299798.11	+	12	1840	c.1775G>T	c.(1774-1776)gGc>gTc	p.G592V	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	592					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTACGCAGCGGCCGGGATCGT	0.622																																																0			16											47	49	48					16																	67293782		2115	4253	6368	65851283	SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1775G>T	16.37:g.67293782G>T	ENSP00000299798:p.Gly592Val		65851283	A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493445	0.64186	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.55052	0.54	5.64	5.64	0.86602	.	0.263399	0.31335	N	0.007836	T	0.56992	0.2023	N	0.14661	0.345	0.80722	D	1	D;P	0.76494	0.999;0.799	D;B	0.73708	0.981;0.212	T	0.54009	-0.8357	10	0.25106	T	0.35	.	19.0544	0.93058	0.0:0.0:1.0:0.0	.	80;592	F8WDV9;Q14940	.;SL9A5_HUMAN	V	592;80	ENSP00000299798:G592V	ENSP00000299798:G592V	G	+	2	0	SLC9A5	65851283	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.460000	0.60108	2.826000	0.97356	0.561000	0.74099	GGC		0.622	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			T	67293782	G	T	67293782	3	4	350	1	0	0	0	0	1	0	0	0	14720	1203	42	3	1821	3	SLC9A5	16	67293782	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	38673616	67293782	23060971	90	19069											
WWP2	11060	genome.wustl.edu	37	16	69967992	69967992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:69967992delA	ENST00000359154.2	+	17	1903	c.1802delA	c.(1801-1803)cacfs	p.H601fs	WWP2_ENST00000448661.1_Frame_Shift_Del_p.H601fs|WWP2_ENST00000542271.1_Frame_Shift_Del_p.H485fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.H601fs|WWP2_ENST00000568684.1_Frame_Shift_Del_p.H162fs|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	601	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACCCGGACCACCTCACCTAC	0.527																																																0			16											123	121	121					16																	69967992		2198	4300	6498	68525493	SO:0001589	frameshift_variant	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1802delA	16.37:g.69967992delA	ENSP00000352069:p.His601fs		68525493	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Frame_Shift_Del	DEL	ENST00000359154.2	37	CCDS10885.1																																																																																				0.527	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		-	69967992	A	-	69967992	7	5	350	1	0	1	0	1	0	0	0	0	17416	159	6	0	1868	0	WWP2	16	69967992	Frame_Shift_Del	DEL	A	TCGA-29-1777-01A-01W-0639-09	2674210	69967992	20386761	91	19070											
SLC38A8	146167	genome.wustl.edu	37	16	84075622	84075622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:84075622C>T	ENST00000299709.3	-	1	140	c.141G>A	c.(139-141)tgG>tgA	p.W47*	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	47					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGAGAAGGCCCAGGGGAAGT	0.642																																																0			16											86	96	92					16																	84075622		2200	4300	6500	82633123	SO:0001587	stop_gained	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.141G>A	16.37:g.84075622C>T	ENSP00000299709:p.Trp47*		82633123		Nonsense_Mutation	SNP	ENST00000299709.3	37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	37	6.247968	0.97412	.	.	ENSG00000166558	ENST00000299709	.	.	.	5.01	5.01	0.66863	.	0.141064	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-15.4956	18.33	0.90265	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000299709:W47X	W	-	3	0	SLC38A8	82633123	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.508000	0.67006	2.323000	0.78572	0.650000	0.86243	TGG		0.642	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		T	84075622	C	T	84075622	4	4	350	1	0	0	0	0	0	1	0	0	14613	624	22	2	1206	2	SLC38A8	16	84075622	Nonsense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	14107630	84075622	6279131	92	19071											
ANKRD11	29123	genome.wustl.edu	37	16	89371663	89371663	+	Silent	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:89371663C>T	ENST00000301030.4	-	4	637	c.177G>A	c.(175-177)aaG>aaA	p.K59K	ANKRD11_ENST00000378330.2_Silent_p.K59K|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000563291.1_Silent_p.K59K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	59					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGAAGGGCAGCTTCCGCTTGC	0.612																																																0			16											66	66	66					16																	89371663		2198	4300	6498	87899164	SO:0001819	synonymous_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.177G>A	16.37:g.89371663C>T			87899164	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																				0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89371663	C	T	89371663	2	4	350	1	0	0	0	0	0	0	0	1	639	796	28	2		2	ANKRD11	16	89371663	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09	5296041	89371663	983090	93	19072											
SPNS3	201305	genome.wustl.edu	37	17	4356468	4356468	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:4356468G>T	ENST00000355530.2	+	8	1361	c.1081G>T	c.(1081-1083)Gtc>Ttc	p.V361F	SPNS3_ENST00000333476.2_Missense_Mutation_p.V234F|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	361					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCTGGCTCTCGTCCTGGCCCC	0.622																																																0			17											83	86	85					17																	4356468		2203	4300	6503	4303217	SO:0001583	missense	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1081G>T	17.37:g.4356468G>T	ENSP00000347721:p.Val361Phe		4303217	Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063407	0.36373	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59772	0.24;0.24	4.85	-7.96	0.01144	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.738788	0.13096	N	0.414185	T	0.28962	0.0719	N	0.13299	0.325	0.20873	N	0.999838	B;B	0.17465	0.022;0.006	B;B	0.26416	0.054;0.069	T	0.15636	-1.0430	10	0.28530	T	0.3	-5.1934	4.4428	0.11582	0.2839:0.1143:0.4881:0.1137	.	234;361	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	F	361;234	ENSP00000347721:V361F;ENSP00000333207:V234F	ENSP00000333207:V234F	V	+	1	0	SPNS3	4303217	0.000000	0.05858	0.686000	0.30086	0.942000	0.58702	-0.653000	0.05360	-1.122000	0.02945	0.442000	0.29010	GTC		0.622	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		T	4356468	G	T	4356468	3	4	350	1	0	0	0	0	1	0	0	0	15078	1145	40	3	1111	3	SPNS3	17	4356468	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		4356468	76838742	94	19073											
DHX33	56919	genome.wustl.edu	37	17	5357159	5357159	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:5357159G>T	ENST00000225296.3	-	7	1489	c.1289C>A	c.(1288-1290)aCc>aAc	p.T430N	DHX33_ENST00000433302.3_Missense_Mutation_p.T206N	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	430	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTCTGGCACGGTCATCTTATC	0.562																																																0			17											96	93	94					17																	5357159		2203	4300	6503	5297883	SO:0001583	missense	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1289C>A	17.37:g.5357159G>T	ENSP00000225296:p.Thr430Asn		5297883	B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002260	0.74932	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.02944	4.1;4.1	5.64	5.64	0.86602	Helicase, C-terminal (1);	0.129612	0.64402	D	0.000001	T	0.11410	0.0278	M	0.71871	2.18	0.80722	D	1	D;B	0.58268	0.982;0.423	P;P	0.54590	0.756;0.531	T	0.00253	-1.1875	10	0.44086	T	0.13	.	18.8715	0.92317	0.0:0.0:1.0:0.0	.	206;430	Q05BE5;Q9H6R0	.;DHX33_HUMAN	N	430;206	ENSP00000225296:T430N;ENSP00000413779:T206N	ENSP00000225296:T430N	T	-	2	0	DHX33	5297883	1.000000	0.71417	0.969000	0.41365	0.951000	0.60555	5.340000	0.65958	2.937000	0.99478	0.650000	0.86243	ACC		0.562	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		T	5357159	G	T	5357159	3	4	350	1	0	0	0	0	1	0	0	0	4506	1261	44	3	858	3	DHX33	17	5357159	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	1000691	5357159	75838051	95	19074											
MYH2	4620	genome.wustl.edu	37	17	10432684	10432684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:10432684C>A	ENST00000245503.5	-	25	3616	c.3232G>T	c.(3232-3234)Gag>Tag	p.E1078*	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E1078*|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1078					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTGTTTCTCATTTTCAATG	0.388																																																0			17											145	134	138					17																	10432684		2203	4300	6503	10373409	SO:0001587	stop_gained	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3232G>T	17.37:g.10432684C>A	ENSP00000245503:p.Glu1078*		10373409	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	43	10.232787	0.99365	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.15	5.15	0.70609	.	0.199034	0.24211	U	0.040524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.7991	0.92008	0.0:1.0:0.0:0.0	.	.	.	.	X	1078	.	ENSP00000245503:E1078X	E	-	1	0	MYH2	10373409	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.346000	0.79347	2.671000	0.90904	0.591000	0.81541	GAG		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10432684	C	A	10432684	4	1	350	1	0	0	0	0	0	1	0	0	10035	835	29	3	2657	3	MYH2	17	10432684	Nonsense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	5075525	10432684	70762526	96	19075											
SUPT6H	6830	genome.wustl.edu	37	17	27010682	27010682	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:27010682T>A	ENST00000314616.6	+	17	2360	c.2077T>A	c.(2077-2079)Tac>Aac	p.Y693N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.Y693N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	693	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAAACAGTTTTACTACCGAGA	0.498																																																0			17											93	87	89					17																	27010682		2203	4300	6503	24034809	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2077T>A	17.37:g.27010682T>A	ENSP00000319104:p.Tyr693Asn		24034809	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164563	0.78339	.	.	ENSG00000109111	ENST00000314616	T	0.45668	0.89	5.39	5.39	0.77823	Tex-like domain (1);	0.126346	0.56097	D	0.000032	T	0.66665	0.2812	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71902	-0.4452	10	0.72032	D	0.01	-4.7306	15.4577	0.75327	0.0:0.0:0.0:1.0	.	693	Q7KZ85	SPT6H_HUMAN	N	693	ENSP00000319104:Y693N	ENSP00000319104:Y693N	Y	+	1	0	SUPT6H	24034809	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.662000	0.83803	2.067000	0.61834	0.529000	0.55759	TAC		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		A	27010682	T	A	27010682	3	1	350	1	0	0	0	0	1	0	0	0	15400	1754	61	5	2139	5	SUPT6H	17	27010682	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09	16577998	27010682	54184528	97	19076											
SLC25A39	51629	genome.wustl.edu	37	17	42399873	42399873	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:42399873C>T	ENST00000377095.5	-	5	357	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	SLC25A39_ENST00000537904.2_Missense_Mutation_p.G57S|SLC25A39_ENST00000225308.8_Missense_Mutation_p.G72S|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Missense_Mutation_p.G72S	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	80					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCAGGACACCATTGCAATAC	0.572																																																0			17											100	80	87					17																	42399873		2203	4300	6503	39755399	SO:0001583	missense	51629			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.238G>A	17.37:g.42399873C>T	ENSP00000366299:p.Gly80Ser		39755399	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922107	0.92319	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.81163	-1.46;-1.26;-1.37	5.18	4.22	0.49857	Mitochondrial carrier domain (1);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	L	0.33339	1.005	0.80722	D	1	D;D;P;D;P	0.76494	0.999;0.995;0.639;0.997;0.889	D;D;P;D;P	0.77004	0.964;0.94;0.734;0.989;0.798	T	0.82408	-0.0472	10	0.54805	T	0.06	-22.5985	9.5467	0.39284	0.142:0.7824:0.0:0.0757	.	65;72;57;80;72	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	S	72;80;57	ENSP00000225308:G72S;ENSP00000366299:G80S;ENSP00000444540:G57S	ENSP00000225308:G72S	G	-	1	0	SLC25A39	39755399	0.689000	0.27690	1.000000	0.80357	0.957000	0.61999	1.785000	0.38684	1.419000	0.47118	-0.136000	0.14681	GGT		0.572	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		T	42399873	C	T	42399873	3	4	350	1	0	0	0	0	1	0	0	0	14506	594	21	2	873	2	SLC25A39	17	42399873	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	15389191	42399873	38795337	98	19077											
ITGA2B	3674	genome.wustl.edu	37	17	42453334	42453334	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:42453334C>G	ENST00000262407.5	-	25	2499	c.2468G>C	c.(2467-2469)gGg>gCg	p.G823A	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G823A	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	823					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	ATTCACAGTCCCAGGGCCATT	0.632											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			17											69	71	70					17																	42453334		2203	4300	6503	39808860	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2468G>C	17.37:g.42453334C>G	ENSP00000262407:p.Gly823Ala	908	39808860	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650801	0.47362	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.43688	0.94;0.94	4.58	4.58	0.56647	Integrin alpha-2 (1);	0.000000	0.35870	N	0.002934	T	0.60495	0.2273	M	0.80028	2.48	0.80722	D	1	D;D	0.58620	0.961;0.983	P;P	0.60286	0.724;0.872	T	0.62253	-0.6893	10	0.40728	T	0.16	.	12.7169	0.57119	0.0:1.0:0.0:0.0	.	421;823	Q59FA8;P08514	.;ITA2B_HUMAN	A	823	ENSP00000262407:G823A;ENSP00000340536:G823A	ENSP00000262407:G823A	G	-	2	0	ITGA2B	39808860	0.020000	0.18652	0.936000	0.37596	0.816000	0.46133	2.952000	0.49097	2.372000	0.80975	0.561000	0.74099	GGG		0.632	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			G	42453334	C	G	42453334	3	3	350	1	0	0	0	0	1	0	0	0	7876	623	22	3	675	3	ITGA2B	17	42453334	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	53461	42453334	38741876	99	19078											
TEX14	56155	genome.wustl.edu	37	17	56642230	56642230	+	Splice_Site	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:56642230C>A	ENST00000240361.8	-	29	4287	c.4202G>T	c.(4201-4203)aGa>aTa	p.R1401I	TEX14_ENST00000584699.1_5'Flank|TEX14_ENST00000349033.5_Splice_Site_p.R1355I|TEX14_ENST00000389934.3_Splice_Site_p.R1395I			Q8IWB6	TEX14_HUMAN	testis expressed 14	1401					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCCTGTTACCTCTCTGTGTC	0.328																																																0			17											125	116	119					17																	56642230		2202	4298	6500	53997229	SO:0001630	splice_region_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4202+1G>T	17.37:g.56642230C>A			53997229	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110719	0.77210	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.24538	1.85;1.85;1.85	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000004	T	0.47266	0.1436	M	0.63843	1.955	0.49051	D	0.999741	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.28106	-1.0054	9	.	.	.	-6.3609	14.063	0.64810	0.0:1.0:0.0:0.0	.	1401;1355;1395	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	I	1401;1395;1355	ENSP00000240361:R1401I;ENSP00000374584:R1395I;ENSP00000268910:R1355I	.	R	-	2	0	TEX14	53997229	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.539000	0.53604	2.705000	0.92388	0.585000	0.79938	AGA		0.328	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		Missense_Mutation	A	56642230	C	A	56642230	5	1	350	1	0	0	0	0	0	0	1	0	15778	695	24	3	311	3	TEX14	17	56642230	Splice_Site	SNP	C	TCGA-29-1777-01A-01W-0639-09	14188896	56642230	24552980	100	19079											
KIAA1012	22878	genome.wustl.edu	37	18	29480957	29480957	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr18:29480957G>T	ENST00000283351.4	-	10	1756	c.1421C>A	c.(1420-1422)cCa>cAa	p.P474Q	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.P474Q|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P420Q	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	474					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGGTGCTCCTGGTTGAAGAAA	0.353																																																0			18											85	82	83					18																	29480957		2203	4300	6503	27734955	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1421C>A	18.37:g.29480957G>T	ENSP00000283351:p.Pro474Gln		27734955	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055416	0.36277	.	.	ENSG00000153339	ENST00000283351	T	0.15487	2.42	5.5	4.61	0.57282	.	0.440472	0.26119	N	0.026236	T	0.26484	0.0647	L	0.55990	1.75	0.41969	D	0.990749	P;P	0.52316	0.843;0.952	B;P	0.51229	0.423;0.663	T	0.03043	-1.1079	10	0.21540	T	0.41	-2.7626	16.0239	0.80528	0.0:0.0:0.8645:0.1355	.	474;474	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	Q	474	ENSP00000283351:P474Q	ENSP00000283351:P474Q	P	-	2	0	TRAPPC8	27734955	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.056000	0.57448	1.432000	0.47375	0.644000	0.83932	CCA		0.353	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		T	29480957	G	T	29480957	3	4	350	1	0	0	0	0	1	0	0	0	8204	1348	47	3	2966	3	KIAA1012	18	29480957	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		29480957	48596291	101	19080											
CARM1	10498	genome.wustl.edu	37	19	11030602	11030602	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:11030602G>A	ENST00000327064.4	+	10	1346	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	CARM1_ENST00000344150.4_Missense_Mutation_p.G386S	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	386	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTGGTCCACGGCCTGGCTTT	0.597																																																0			19											82	76	78					19																	11030602		2203	4300	6503	10891602	SO:0001583	missense	10498			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1156G>A	19.37:g.11030602G>A	ENSP00000325690:p.Gly386Ser		10891602	A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497780	0.96355	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.27402	1.67;1.67	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70178	-0.4943	10	0.87932	D	0	-3.3112	17.3884	0.87423	0.0:0.0:1.0:0.0	.	386;386	Q86X55-1;Q86X55	.;CARM1_HUMAN	S	386	ENSP00000325690:G386S;ENSP00000340934:G386S	ENSP00000325690:G386S	G	+	1	0	CARM1	10891602	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.067000	0.93955	2.391000	0.81399	0.563000	0.77884	GGC		0.597	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		A	11030602	G	A	11030602	3	1	350	1	0	0	0	0	1	0	0	0	2655	1116	39	1	1194	1	CARM1	19	11030602	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		11030602	48098381	102	19081											
ZNF333	84449	genome.wustl.edu	37	19	14806465	14806465	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:14806465C>G	ENST00000292530.6	+	4	306	c.215C>G	c.(214-216)aCa>aGa	p.T72R	ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000540689.2_Missense_Mutation_p.T72R|ZNF333_ENST00000536363.1_5'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	72	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CTCCGTGCCACAGGTGTTGGT	0.562																																					NSCLC(60;75 1281 16985 25154 29885)											0			19											109	89	95					19																	14806465		2203	4300	6503	14667465	SO:0001583	missense	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.215C>G	19.37:g.14806465C>G	ENSP00000292530:p.Thr72Arg		14667465	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567432	0.28003	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	T;T	0.06449	5.57;3.3	2.73	-0.993	0.10228	Krueppel-associated box (1);	.	.	.	.	T	0.04092	0.0114	L	0.50333	1.59	0.09310	N	0.999998	B;P	0.46512	0.334;0.879	B;B	0.35353	0.1;0.201	T	0.38520	-0.9657	9	0.15952	T	0.53	.	2.6987	0.05142	0.2213:0.5067:0.0:0.272	.	72;72	Q96JL9;Q6P2E6	ZN333_HUMAN;.	R	72	ENSP00000438130:T72R;ENSP00000292530:T72R	ENSP00000292530:T72R	T	+	2	0	ZNF333	14667465	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.408000	0.02485	-0.228000	0.09869	0.511000	0.50034	ACA		0.562	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		G	14806465	C	G	14806465	3	3	350	1	0	0	0	0	1	0	0	0	17850	478	17	3	225	3	ZNF333	19	14806465	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	3775863	14806465	44322518	103	19082											
SFRS14	10147	genome.wustl.edu	37	19	19135921	19135921	+	Silent	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:19135921C>A	ENST00000601879.1	-	3	1533	c.1236G>T	c.(1234-1236)gtG>gtT	p.V412V	SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000456085.2_Silent_p.V181V|SUGP2_ENST00000600377.1_Silent_p.V426V|SUGP2_ENST00000452918.2_Silent_p.V412V|SUGP2_ENST00000337018.6_Silent_p.V412V			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	412					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTTTGGTCTTCACAGCACCTT	0.338																																																0			19											57	60	59					19																	19135921		2203	4300	6503	18996921	SO:0001819	synonymous_variant	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1236G>T	19.37:g.19135921C>A			18996921	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	CCDS12392.1																																																																																				0.338	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		A	19135921	C	A	19135921	2	1	350	1	0	0	0	0	0	0	0	1	14173	813	29	3		3	SFRS14	19	19135921	Silent	SNP	C	TCGA-29-1777-01A-01W-0639-09	4329456	19135921	39993062	104	19083											
ZNF226	7769	genome.wustl.edu	37	19	44680005	44680005	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:44680005G>T	ENST00000590089.1	+	7	957	c.590G>T	c.(589-591)tGt>tTt	p.C197F	ZNF226_ENST00000454662.2_Missense_Mutation_p.C197F|ZNF226_ENST00000337433.5_Missense_Mutation_p.C197F|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	197					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)						Prostate(69;0.0352)|all_neural(266;0.202)				AATAAATTATGTCAATGTAAG	0.358																																					Pancreas(115;581 1665 13228 19278 50070)											0			19											46	46	46					19																	44680005		1822	4084	5906	49371845	SO:0001583	missense	7769			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.590G>T	19.37:g.44680005G>T	ENSP00000465121:p.Cys197Phe		49371845	Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	3.837	-0.034539	0.07543	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.07114	3.22;3.22	3.72	-0.841	0.10752	.	.	.	.	.	T	0.03263	0.0095	N	0.11023	0.085	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44997	-0.9291	9	0.26408	T	0.33	.	0.3029	0.00275	0.2913:0.143:0.3051:0.2606	.	197	Q9NYT6	ZN226_HUMAN	F	197	ENSP00000336719:C197F;ENSP00000393265:C197F	ENSP00000336719:C197F	C	+	2	0	ZNF226	49371845	0.004000	0.15560	0.001000	0.08648	0.027000	0.11550	0.291000	0.18994	-0.037000	0.13646	-0.140000	0.14226	TGT		0.358	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			T	44680005	G	T	44680005	3	4	350	1	0	0	0	0	1	0	0	0	17780	1377	48	3	658	3	ZNF226	19	44680005	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	25544084	44680005	14448978	105	19084											
NLRP13	126204	genome.wustl.edu	37	19	56423809	56423809	+	Silent	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:56423809A>G	ENST00000342929.3	-	5	1373	c.1374T>C	c.(1372-1374)taT>taC	p.Y458Y	NLRP13_ENST00000588751.1_Silent_p.Y458Y	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	458	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGAGAAAAAATAGGCATACA	0.512																																																0			19											84	85	85					19																	56423809		2203	4300	6503	61115621	SO:0001819	synonymous_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1374T>C	19.37:g.56423809A>G			61115621	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																				0.512	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		G	56423809	A	G	56423809	2	3	350	1	0	0	0	0	0	0	0	1	10475	108	4	4		4	NLRP13	19	56423809	Silent	SNP	A	TCGA-29-1777-01A-01W-0639-09	11743804	56423809	2705174	106	19085											
NLRP13	126204	genome.wustl.edu	37	19	56423971	56423971	+	Missense_Mutation	SNP	T	T	A	rs149489544		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:56423971T>A	ENST00000342929.3	-	5	1211	c.1212A>T	c.(1210-1212)gaA>gaT	p.E404D	NLRP13_ENST00000588751.1_Missense_Mutation_p.E404D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	404	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.E404D(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTTTCTCAACTTCACTTGAGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	19											86	90	89					19																	56423971		2203	4300	6503	61115783	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1212A>T	19.37:g.56423971T>A	ENSP00000343891:p.Glu404Asp		61115783	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	7.970	0.748967	0.15710	.	.	ENSG00000173572	ENST00000342929	T	0.73047	-0.71	2.7	-3.58	0.04597	.	.	.	.	.	T	0.42653	0.1212	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.21917	0.037	T	0.17745	-1.0359	9	0.40728	T	0.16	.	0.8016	0.01076	0.1622:0.2545:0.1636:0.4197	.	404	Q86W25	NAL13_HUMAN	D	404	ENSP00000343891:E404D	ENSP00000343891:E404D	E	-	3	2	NLRP13	61115783	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.703000	0.05063	-1.109000	0.02996	-1.431000	0.01090	GAA		0.448	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		A	56423971	T	A	56423971	3	1	350	1	0	0	0	0	1	0	0	0	10475	1606	56	5	1945	5	NLRP13	19	56423971	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09	162	56423971	2705012	107	19086											
ZMYND8	23613	genome.wustl.edu	37	20	45891143	45891143	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr20:45891143C>T	ENST00000311275.7	-	12	1703	c.1450G>A	c.(1450-1452)Gca>Aca	p.A484T	ZMYND8_ENST00000352431.2_Missense_Mutation_p.A504T|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A479T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A511T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A479T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A484T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A479T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A484T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A504T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A421T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A504T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A484T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	484					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAACTCCCTGCTTGTCCCGTC	0.493																																																0			20											134	123	127					20																	45891143		2203	4300	6503	45324550	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1450G>A	20.37:g.45891143C>T	ENSP00000312237:p.Ala484Thr		45324550	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.724177|4.724177	0.89298|0.89298	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D;D|.	0.93307|.	-2.35;-2.24;-2.33;-2.21;-2.25;-2.26;-2.36;-2.25;-2.24;-3.2;-2.23;-2.36|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.107024|.	0.64402|.	D|.	0.000005|.	T|T	0.69260|0.69260	0.3091|0.3091	L|L	0.48642|0.48642	1.525|1.525	0.44477|0.44477	D|D	0.99741|0.99741	D;D;P;D;D;D;D;D;D;D;D;D;D;D;P;D|.	0.71674|.	0.998;0.987;0.937;0.998;0.989;0.989;0.987;0.995;0.986;0.975;0.995;0.964;0.998;0.998;0.844;0.964|.	D;P;P;D;D;D;P;D;P;P;D;D;D;D;P;D|.	0.70227|.	0.953;0.898;0.86;0.968;0.92;0.938;0.898;0.959;0.87;0.87;0.959;0.92;0.968;0.968;0.501;0.938|.	T|T	0.65594|0.65594	-0.6130|-0.6130	10|5	0.37606|.	T|.	0.19|.	-16.9951|-16.9951	19.0521|19.0521	0.93050|0.93050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	479;511;479;479;459;478;504;484;479;504;504;484;421;479;504;484|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q9ULU4-8;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.|.	T|N	479;484;479;484;504;504;484;511;484;421;504;479|410	ENSP00000354166:A479T;ENSP00000312237:A484T;ENSP00000392964:A479T;ENSP00000262975:A484T;ENSP00000420095:A504T;ENSP00000335537:A504T;ENSP00000379577:A484T;ENSP00000439800:A511T;ENSP00000348246:A484T;ENSP00000396725:A421T;ENSP00000418210:A504T;ENSP00000361093:A479T|.	ENSP00000262975:A484T|.	A|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45324550|45324550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	2.386000|2.386000	0.44380|0.44380	2.508000|2.508000	0.84585|0.84585	0.585000|0.585000	0.79938|0.79938	GCA|AGC		0.493	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		T	45891143	C	T	45891143	3	4	350	1	0	0	0	0	1	0	0	0	17711	797	28	2	2104	2	ZMYND8	20	45891143	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09		45891143	17134377	108	19087											
NRIP1	8204	genome.wustl.edu	37	21	16337334	16337359	+	Frame_Shift_Del	DEL	TCTTGGAGAGTCTTTTTCATACTCAT	TCTTGGAGAGTCTTTTTCATACTCAT	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	TCTTGGAGAGTCTTTTTCATACTCAT	TCTTGGAGAGTCTTTTTCATACTCAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr21:16337334_16337359delTCTTGGAGAGTCTTTTTCATACTCAT	ENST00000400202.1	-	3	3867_3892	c.3155_3180delATGAGTATGAAAAAGACTCTCCAAGA	c.(3154-3180)aatgagtatgaaaaagactctccaagafs	p.NEYEKDSPR1052fs	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.NEYEKDSPR1052fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.NEYEKDSPR1052fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1052	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTTGGTCAATCTTGGAGAGTCTTTTTCATACTCATTCTTCTCCGC	0.447																																																0			21																																								15259230	SO:0001589	frameshift_variant	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3155_3180delATGAGTATGAAAAAGACTCTCCAAGA	21.37:g.16337334_16337359delTCTTGGAGAGTCTTTTTCATACTCAT	ENSP00000383063:p.Asn1052fs		15259205	Q8IWE8	Frame_Shift_Del	DEL	ENST00000400202.1	37	CCDS13568.1																																																																																				0.447	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		-	16337359	TCTTGGAGAGTCTTTTTCATACTCAT	-	16337334	7	5	350	1	0	1	0	1	0	0	0	0	10652	1432	50	0	300	0	NRIP1	21	16337334	Frame_Shift_Del	DEL	TCTTGGAGAGTCTTTTTCATACTCAT	TCGA-29-1777-01A-01W-0639-09		16337334	31792561	109	19088											
ADAMTS1	9510	genome.wustl.edu	37	21	28212293	28212293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr21:28212293delC	ENST00000284984.3	-	6	2207	c.1753delG	c.(1753-1755)gaafs	p.E585fs		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	585	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTGTCACATTCCCTCATCGTG	0.522																																																0			21											158	128	138					21																	28212293		2203	4300	6503	27134164	SO:0001589	frameshift_variant	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1753delG	21.37:g.28212293delC	ENSP00000284984:p.Glu585fs		27134164	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Frame_Shift_Del	DEL	ENST00000284984.3	37	CCDS33524.1																																																																																				0.522	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			-	28212293	C	-	28212293	7	5	350	1	0	1	0	1	0	0	0	0	255	864	30	0	1166	0	ADAMTS1	21	28212293	Frame_Shift_Del	DEL	C	TCGA-29-1777-01A-01W-0639-09	11874959	28212293	19917602	110	19089											
KRTAP6-1	337966	genome.wustl.edu	37	21	31986188	31986188	+	Silent	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr21:31986188G>T	ENST00000329122.2	-	1	61	c.36C>A	c.(34-36)acC>acA	p.T12T	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	12						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						CATAGCCAGGGGTGCCATAGT	0.562																																																0			21											202	195	197					21																	31986188		2203	4300	6503	30908059	SO:0001819	synonymous_variant	337966			AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"Keratin associated proteins"	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.36C>A	21.37:g.31986188G>T			30908059		Silent	SNP	ENST00000329122.2	37	CCDS13602.1																																																																																				0.562	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		T	31986188	G	T	31986188	2	4	350	1	0	0	0	0	0	0	0	1	8569	1219	43	3		3	KRTAP6-1	21	31986188	Silent	SNP	G	TCGA-29-1777-01A-01W-0639-09	3773895	31986188	16143707	111	19090											
MCM3AP	8888	genome.wustl.edu	37	21	47666693	47666693	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr21:47666693A>C	ENST00000397708.1	-	22	4652	c.4398T>G	c.(4396-4398)agT>agG	p.S1466R	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1466R|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1466					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCATGTCCTCACTCTTCATTT	0.602																																																0			21											166	160	162					21																	47666693		2203	4300	6503	46491121	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4398T>G	21.37:g.47666693A>C	ENSP00000380820:p.Ser1466Arg		46491121	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	8.939	0.965458	0.18583	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03663	3.85;3.85	5.68	-5.82	0.02333	.	0.445267	0.29009	N	0.013440	T	0.04724	0.0128	M	0.63428	1.95	0.21064	N	0.999795	P	0.46706	0.883	B	0.42555	0.391	T	0.10200	-1.0640	10	0.22109	T	0.4	-4.3294	15.5042	0.75725	0.7536:0.0:0.2464:0.0	.	1466	O60318	MCM3A_HUMAN	R	1466	ENSP00000380820:S1466R;ENSP00000291688:S1466R	ENSP00000291688:S1466R	S	-	3	2	MCM3AP	46491121	0.000000	0.05858	0.140000	0.22221	0.089000	0.18198	-0.499000	0.06413	-0.938000	0.03714	-0.924000	0.02725	AGT		0.602	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		C	47666693	A	C	47666693	3	2	350	1	0	0	0	0	1	0	0	0	9388	156	6	5	1576	5	MCM3AP	21	47666693	Missense_Mutation	SNP	A	TCGA-29-1777-01A-01W-0639-09	15680505	47666693	463202	112	19091											
CCT8L2	150160	genome.wustl.edu	37	22	17073310	17073310	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:17073310G>T	ENST00000359963.3	-	1	390	c.131C>A	c.(130-132)gCc>gAc	p.A44D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	44					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GATGACACTGGCCAGGGTCTG	0.642																																																0			22											63	67	66					22																	17073310		2203	4300	6503	15453310	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.131C>A	22.37:g.17073310G>T	ENSP00000353048:p.Ala44Asp		15453310	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	19.17	3.775933	0.70107	.	.	ENSG00000198445	ENST00000359963	D	0.81739	-1.53	2.0	2.0	0.26442	.	0.000000	0.38217	U	0.001761	D	0.87022	0.6074	M	0.80332	2.49	0.23519	N	0.997503	D	0.67145	0.996	D	0.72625	0.978	T	0.76252	-0.3027	10	0.87932	D	0	-14.2508	7.4831	0.27417	0.0:0.0:1.0:0.0	.	44	Q96SF2	TCPQM_HUMAN	D	44	ENSP00000353048:A44D	ENSP00000353048:A44D	A	-	2	0	CCT8L2	15453310	0.752000	0.28338	0.091000	0.20842	0.845000	0.48019	0.772000	0.26647	1.126000	0.42016	0.393000	0.25936	GCC		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17073310	G	T	17073310	3	4	350	1	0	0	0	0	1	0	0	0	2961	1203	42	3	1546	3	CCT8L2	22	17073310	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		17073310	34231256	113	19092											
IL17RA	23765	genome.wustl.edu	37	22	17582934	17582934	+	Splice_Site	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:17582934G>A	ENST00000319363.6	+	6	731		c.e6+1			NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A						cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ATGAGCTCAGGTAACAGCTGG	0.547																																																0			22											125	119	121					22																	17582934		2203	4300	6503	15962934	SO:0001630	splice_region_variant	23765			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.598+1G>A	22.37:g.17582934G>A			15962934	O43844|Q20WK1	Splice_Site	SNP	ENST00000319363.6	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.511950	0.27036	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9963	0.71433	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL17RA	15962934	1.000000	0.71417	0.997000	0.53966	0.094000	0.18550	5.648000	0.67930	2.215000	0.71742	0.313000	0.20887	.		0.547	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	Intron	A	17582934	G	A	17582934	5	1	350	1	0	0	0	0	0	0	1	0	7639	1275	44	2	621	2	IL17RA	22	17582934	Splice_Site	SNP	G	TCGA-29-1777-01A-01W-0639-09	509624	17582934	33721632	114	19093											
PPM1F	9647	genome.wustl.edu	37	22	22277647	22277647	+	Missense_Mutation	SNP	C	C	G	rs146460819		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:22277647C>G	ENST00000263212.5	-	8	1288	c.1183G>C	c.(1183-1185)Gct>Cct	p.A395P	PPM1F_ENST00000538191.1_Missense_Mutation_p.A291P|PPM1F_ENST00000407142.1_Missense_Mutation_p.A227P	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	395					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CGGGCCGCAGCCACCAGCTCC	0.667																																																0			22											38	43	41					22																	22277647		2203	4299	6502	20607647	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1183G>C	22.37:g.22277647C>G	ENSP00000263212:p.Ala395Pro		20607647	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196948	0.38806	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.17691	2.26;2.26;2.26	5.3	2.12	0.27331	Protein phosphatase 2C-like (5);	0.513245	0.22094	N	0.064703	T	0.29749	0.0743	L	0.55990	1.75	0.37162	D	0.902642	D;D	0.69078	0.997;0.997	D;D	0.70227	0.953;0.968	T	0.07616	-1.0763	10	0.32370	T	0.25	-8.3454	7.9895	0.30231	0.1175:0.6904:0.0:0.1921	.	291;395	B7Z2C3;P49593	.;PPM1F_HUMAN	P	395;227;227;291	ENSP00000263212:A395P;ENSP00000384930:A227P;ENSP00000439915:A291P	ENSP00000263212:A395P	A	-	1	0	PPM1F	20607647	1.000000	0.71417	0.495000	0.27527	0.076000	0.17211	1.097000	0.30988	0.115000	0.18071	-2.995000	0.00078	GCT		0.667	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		G	22277647	C	G	22277647	3	3	350	1	0	0	0	0	1	0	0	0	12342	739	26	3	185	3	PPM1F	22	22277647	Missense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	4694713	22277647	29026919	115	19094											
TCN2	6948	genome.wustl.edu	37	22	31006918	31006918	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:31006918T>C	ENST00000215838.3	+	2	619	c.125T>C	c.(124-126)aTg>aCg	p.M42T	TCN2_ENST00000405742.3_Missense_Mutation_p.M42T|TCN2_ENST00000407817.3_Missense_Mutation_p.M42T			P20062	TCO2_HUMAN	transcobalamin II	42					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTACCTTGGATGGACCGGCTT	0.537																																																0			22											163	154	157					22																	31006918		2203	4300	6503	29336918	SO:0001583	missense	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.125T>C	22.37:g.31006918T>C	ENSP00000215838:p.Met42Thr		29336918	Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511449	0.64522	.	.	ENSG00000185339	ENST00000215838;ENST00000423350;ENST00000405742;ENST00000407817	T;T;T;T	0.36520	1.36;1.36;1.36;1.25	6.16	6.16	0.99307	.	0.429674	0.31071	N	0.008302	T	0.49660	0.1570	L	0.50333	1.59	0.80722	D	1	P;P;P	0.48589	0.801;0.912;0.912	P;D;D	0.76071	0.673;0.987;0.987	T	0.43718	-0.9374	10	0.02654	T	1	-20.4497	14.3293	0.66545	0.0:0.0:0.0:1.0	.	42;42;42	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	T	42	ENSP00000215838:M42T;ENSP00000411529:M42T;ENSP00000385914:M42T;ENSP00000384914:M42T	ENSP00000215838:M42T	M	+	2	0	TCN2	29336918	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.526000	0.45607	2.367000	0.80283	0.528000	0.53228	ATG		0.537	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		C	31006918	T	C	31006918	3	2	350	1	0	0	0	0	1	0	0	0	15707	1464	51	4	131	4	TCN2	22	31006918	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09	8729271	31006918	20297648	116	19095											
LGALS2	3957	genome.wustl.edu	37	22	37966627	37966627	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:37966627G>C	ENST00000215886.4	-	3	379	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	69	Beta-galactoside binding. {ECO:0000255}.|Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCTTCCCGTTGTTCTTGCCCC	0.582																																					GBM(193;1840 2185 13711 20676 24505)											0			22											204	176	186					22																	37966627		2203	4300	6503	36296573	SO:0001583	missense	3957				CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"Lectins, galactoside-binding"	6562	protein-coding gene	gene with protein product	"galectin 2"	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.205C>G	22.37:g.37966627G>C	ENSP00000215886:p.Gln69Glu		36296573	Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552600	0.45487	.	.	ENSG00000100079	ENST00000215886	T	0.04234	3.67	5.97	4.9	0.64082	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.745739	0.14006	N	0.347814	T	0.04182	0.0116	L	0.28740	0.885	0.41367	D	0.987461	P	0.38565	0.637	B	0.31495	0.131	T	0.57242	-0.7845	10	0.16420	T	0.52	0.0036	15.1147	0.72392	0.0:0.0:0.8581:0.1419	.	69	P05162	LEG2_HUMAN	E	69	ENSP00000215886:Q69E	ENSP00000215886:Q69E	Q	-	1	0	LGALS2	36296573	0.996000	0.38824	0.981000	0.43875	0.637000	0.38172	1.956000	0.40382	2.828000	0.97474	0.655000	0.94253	CAA		0.582	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		C	37966627	G	C	37966627	3	2	350	1	0	0	0	0	1	0	0	0	8742	1386	48	3	201	3	LGALS2	22	37966627	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09	6959709	37966627	13337939	117	19096											
SMC1B	27127	genome.wustl.edu	37	22	45804642	45804642	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:45804642T>A	ENST00000357450.4	-	2	246	c.247A>T	c.(247-249)Ata>Tta	p.I83L	SMC1B_ENST00000404354.3_Missense_Mutation_p.I83L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	83					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCACATATATAATTTTTACA	0.299																																																0			22											89	85	86					22																	45804642		1803	4069	5872	44183306	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.247A>T	22.37:g.45804642T>A	ENSP00000350036:p.Ile83Leu		44183306	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403210	0.25291	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.66460	-0.21;-0.21	5.55	1.12	0.20585	.	0.486738	0.18700	N	0.133618	T	0.50650	0.1628	L	0.39245	1.2	0.21290	N	0.999739	B;B	0.13594	0.008;0.001	B;B	0.16289	0.015;0.009	T	0.31110	-0.9955	10	0.11485	T	0.65	.	9.6048	0.39626	0.0:0.6508:0.0:0.3492	.	83;83	Q8NDV3-2;Q8NDV3-3	.;.	L	83	ENSP00000350036:I83L;ENSP00000385902:I83L	ENSP00000350036:I83L	I	-	1	0	SMC1B	44183306	0.946000	0.32159	0.458000	0.27068	0.321000	0.28281	1.365000	0.34182	0.103000	0.17682	-0.801000	0.03215	ATA		0.299	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		A	45804642	T	A	45804642	3	1	350	1	0	0	0	0	1	0	0	0	14785	1406	49	5	3556	5	SMC1B	22	45804642	Missense_Mutation	SNP	T	TCGA-29-1777-01A-01W-0639-09	7838015	45804642	5499924	118	19097											
HUWE1	10075	genome.wustl.edu	37	X	53576264	53576264	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrX:53576264G>T	ENST00000342160.3	-	66	10148	c.9691C>A	c.(9691-9693)Cag>Aag	p.Q3231K	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q3231K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3231					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGCTGCGCTGCAAGATGGAG	0.522																																																0			X											119	105	110					X																	53576264		2203	4300	6503	53592989	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9691C>A	X.37:g.53576264G>T	ENSP00000340648:p.Gln3231Lys		53592989	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.315346|3.315346	0.60524|0.60524	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.36340	.|1.26;1.26	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.149794	.|0.47455	.|D	.|0.000239	T|T	0.49167|0.49167	0.1541|0.1541	L|L	0.31752|0.31752	0.955|0.955	0.80722|0.80722	D|D	1|1	.|P;P	.|0.43578	.|0.713;0.811	.|P;P	.|0.60789	.|0.761;0.879	T|T	0.48068|0.48068	-0.9067|-0.9067	5|10	.|0.66056	.|D	.|0.02	.|.	17.6701|17.6701	0.88214|0.88214	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3231;3215	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	E|K	2264;68|3231	.|ENSP00000340648:Q3231K;ENSP00000262854:Q3231K	.|ENSP00000262854:Q3231K	A|Q	-|-	2|1	0|0	HUWE1|HUWE1	53592989|53592989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.717000|8.717000	0.91425|0.91425	2.445000|2.445000	0.82738|0.82738	0.600000|0.600000	0.82982|0.82982	GCA|CAG		0.522	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53576264	G	T	53576264	3	4	350	1	0	0	0	0	1	0	0	0	7461	1328	46	3	3505	3	HUWE1	23	53576264	Missense_Mutation	SNP	G	TCGA-29-1777-01A-01W-0639-09		53576264	101694296	119	19098											
TBC1D8B	54885	genome.wustl.edu	37	X	106111653	106111653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrX:106111653C>A	ENST00000357242.5	+	18	2933	c.2759C>A	c.(2758-2760)tCa>tAa	p.S920*	TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.S914*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	920							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGGATGCTTCAAAAGGAGAT	0.348																																																0			X											85	78	80					X																	106111653		2202	4300	6502	105998309	SO:0001587	stop_gained	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2759C>A	X.37:g.106111653C>A	ENSP00000349781:p.Ser920*		105998309	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Nonsense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.219531|9.219531	0.99105|0.99105	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|.	.|.	.|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.409866	.|0.24269	.|N	.|0.040018	T|.	0.54208|.	0.1844|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49399|.	-0.8944|.	3|.	.|0.09338	.|T	.|0.73	-1.0595|-1.0595	17.5848|17.5848	0.87978|0.87978	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	182|920;914;182	.|.	.|ENSP00000276175:S914X	F|S	+|+	3|2	2|0	TBC1D8B|TBC1D8B	105998309|105998309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	3.746000|3.746000	0.55127|0.55127	2.474000|2.474000	0.83562|0.83562	0.600000|0.600000	0.82982|0.82982	TTC|TCA		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		A	106111653	C	A	106111653	4	1	350	1	0	0	0	0	0	1	0	0	15626	838	29	3	2895	3	TBC1D8B	23	106111653	Nonsense_Mutation	SNP	C	TCGA-29-1777-01A-01W-0639-09	52535389	106111653	49158907	120	19099											
MCF2	4168	genome.wustl.edu	37	X	138695388	138695388	+	Intron	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrX:138695388T>C	ENST00000370576.4	-	10	1573				MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Silent_p.K466K|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000519895.1_Silent_p.K526K	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGAAAAAAGTTTACATGCTT	0.308																																																0			X																																								138523054	SO:0001627	intron_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1363+1651A>G	X.37:g.138695388T>C			138523054	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1																																																																																				0.308	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		C	138695388	T	C	138695388	1	2	350	0	1	0	0	0	0	0	0	0	9378	1722	60	4		4	MCF2	23	138695388	Intron	SNP	T	TCGA-29-1777-01A-01W-0639-09	32583735	138695388	16575172	121	19100											
FLG	2312	genome.wustl.edu	37	1	152276368	152276368	+	Missense_Mutation	SNP	C	C	G	rs201216189		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr1:152276368C>G	ENST00000368799.1	-	3	11029	c.10994G>C	c.(10993-10995)aGt>aCt	p.S3665T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3665	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTGTCACTGGCCTGACT	0.587									Ichthyosis																																							0			1											34	36	36					1																	152276368		2201	4268	6469	150542992	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10994G>C	1.37:g.152276368C>G	ENSP00000357789:p.Ser3665Thr		150542992	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369374	0.24771	.	.	ENSG00000143631	ENST00000368799	T	0.08008	3.14	4.62	1.67	0.24075	.	.	.	.	.	T	0.04724	0.0128	M	0.69823	2.125	0.09310	N	1	B	0.31383	0.321	B	0.42112	0.376	T	0.45731	-0.9241	9	0.15499	T	0.54	.	6.3601	0.21422	0.0:0.5359:0.3655:0.0986	.	3665	P20930	FILA_HUMAN	T	3665	ENSP00000357789:S3665T	ENSP00000357789:S3665T	S	-	2	0	FLG	150542992	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.297000	0.08276	0.647000	0.30713	0.552000	0.68991	AGT		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152276368	C	G	152276368	3	3	351	1	0	0	0	0	1	0	0	0	5922	565	20	3	1195	3	FLG	1	152276368	Missense_Mutation	SNP	C	TCGA-29-1778-01A-01W-0639-09		152276368	96974253	1	19101											
UAP1	6675	genome.wustl.edu	37	1	162549332	162549332	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr1:162549332C>T	ENST00000367925.1	+	3	632	c.600C>T	c.(598-600)ccC>ccT	p.P200P	UAP1_ENST00000271469.3_Silent_p.P200P|UAP1_ENST00000367926.4_Silent_p.P200P|UAP1_ENST00000367924.1_Silent_p.P200P			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	200					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAATGCTCCCCGCCATGAGTT	0.368																																																0			1											71	75	74					1																	162549332		2203	4300	6503	160815956	SO:0001819	synonymous_variant	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.600C>T	1.37:g.162549332C>T			160815956	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37																																																																																					0.368	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		T	162549332	C	T	162549332	2	4	351	1	0	0	0	0	0	0	0	1	16825	639	23	1		1	UAP1	1	162549332	Silent	SNP	C	TCGA-29-1778-01A-01W-0639-09	10272964	162549332	86701289	2	19102											
NUAK2	81788	genome.wustl.edu	37	1	205277292	205277292	+	Splice_Site	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr1:205277292C>T	ENST00000367157.3	-	4	697		c.e4+1			NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTGGGACTCACCTTGATATTC	0.512																																																0			1											98	94	96					1																	205277292		2203	4300	6503	203543915	SO:0001630	splice_region_variant	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.570+1G>A	1.37:g.205277292C>T			203543915		Splice_Site	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727499	0.89390	.	.	ENSG00000163545	ENST00000367157	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.142	0.93449	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUAK2	203543915	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.818000	0.86416	2.619000	0.88677	0.561000	0.74099	.		0.512	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952	Intron	T	205277292	C	T	205277292	5	4	351	1	0	0	0	0	0	0	1	0	10713	521	18	2	1331	2	NUAK2	1	205277292	Splice_Site	SNP	C	TCGA-29-1778-01A-01W-0639-09	42727960	205277292	43973329	3	19103											
USH2A	7399	genome.wustl.edu	37	1	215812579	215812579	+	Splice_Site	SNP	G	G	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr1:215812579G>T	ENST00000307340.3	-	69	15356	c.14970C>A	c.(14968-14970)acC>acA	p.T4990T	USH2A_ENST00000366943.2_Splice_Site_p.T4990T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4990					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAAAAAGAAGGCTAGACAAA	0.388										HNSCC(13;0.011)																																						0			1											143	144	143					1																	215812579		2203	4300	6503	213879202	SO:0001630	splice_region_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14969-1C>A	1.37:g.215812579G>T			213879202	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Silent	T	215812579	G	T	215812579	5	4	351	1	0	0	0	0	0	0	1	0	17036	1014	35	3	654	3	USH2A	1	215812579	Splice_Site	SNP	G	TCGA-29-1778-01A-01W-0639-09	10535287	215812579	33438042	4	19104											
SNX17	9784	genome.wustl.edu	37	2	27599040	27599040	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr2:27599040G>T	ENST00000233575.2	+	12	1394	c.1172G>T	c.(1171-1173)aGt>aTt	p.S391I	SNX17_ENST00000537606.1_Missense_Mutation_p.S366I|SNX17_ENST00000542478.1_Missense_Mutation_p.S177I|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Missense_Mutation_p.S177I	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	391	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGCGGCAGTATCAGGAAG	0.517																																																0			2											133	125	128					2																	27599040		2203	4300	6503	27452544	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1172G>T	2.37:g.27599040G>T	ENSP00000233575:p.Ser391Ile		27452544	B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527147	0.64860	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.35048	1.74;1.33;1.33;1.33	5.88	5.01	0.66863	.	0.033453	0.85682	D	0.000000	T	0.48554	0.1506	M	0.69823	2.125	0.80722	D	1	P;D;D;P	0.61080	0.69;0.989;0.989;0.95	B;P;P;P	0.50708	0.107;0.648;0.648;0.512	T	0.54302	-0.8314	10	0.62326	D	0.03	-7.2161	13.9669	0.64213	0.0734:0.0:0.9266:0.0	.	366;379;371;391	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	I	391;177;366;177	ENSP00000233575:S391I;ENSP00000441779:S177I;ENSP00000439208:S366I;ENSP00000442567:S177I	ENSP00000233575:S391I	S	+	2	0	SNX17	27452544	1.000000	0.71417	0.955000	0.39395	0.981000	0.71138	7.767000	0.85331	1.502000	0.48669	0.561000	0.74099	AGT		0.517	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		T	27599040	G	T	27599040	3	4	351	1	0	0	0	0	1	0	0	0	14891	1029	36	3	1218	3	SNX17	2	27599040	Missense_Mutation	SNP	G	TCGA-29-1778-01A-01W-0639-09		27599040	215600333	5	19105											
IFT172	26160	genome.wustl.edu	37	2	27701014	27701014	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr2:27701014T>C	ENST00000260570.3	-	11	1118	c.1015A>G	c.(1015-1017)Aag>Gag	p.K339E	RNU6-986P_ENST00000363133.1_RNA|IFT172_ENST00000359466.6_Missense_Mutation_p.K339E|IFT172_ENST00000416524.2_Missense_Mutation_p.K318E	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	339					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GACAGGTTCTTCACAATCACC	0.502																																																0			2											166	153	157					2																	27701014		2203	4300	6503	27554518	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1015A>G	2.37:g.27701014T>C	ENSP00000260570:p.Lys339Glu		27554518	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	31	5.099508	0.94197	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;D;D	0.95918	3.45;-3.85;-3.85	5.98	5.98	0.97165	WD40 repeat-like-containing domain (1);	0.094085	0.64402	D	0.000001	D	0.96904	0.8989	M	0.85945	2.785	0.58432	D	0.999992	D;P;B	0.56287	0.975;0.561;0.386	P;B;B	0.52598	0.703;0.246;0.379	D	0.97211	0.9871	10	0.66056	D	0.02	-23.6356	15.2724	0.73712	0.0:0.0:0.0:1.0	.	339;339;339	A5PKZ0;Q9UG01-2;Q9UG01	.;.;IF172_HUMAN	E	339;339;318	ENSP00000260570:K339E;ENSP00000352443:K339E;ENSP00000407408:K318E	ENSP00000260570:K339E	K	-	1	0	IFT172	27554518	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.289000	0.77006	0.528000	0.53228	AAG		0.502	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		C	27701014	T	C	27701014	3	2	351	1	0	0	0	0	1	0	0	0	7557	1792	62	4	4386	4	IFT172	2	27701014	Missense_Mutation	SNP	T	TCGA-29-1778-01A-01W-0639-09	101974	27701014	215498359	6	19106											
ZC3H6	376940	genome.wustl.edu	37	2	113080462	113080462	+	Silent	SNP	G	G	A	rs572742243		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr2:113080462G>A	ENST00000409871.1	+	9	1724	c.1323G>A	c.(1321-1323)gcG>gcA	p.A441A	ZC3H6_ENST00000343936.4_Silent_p.A441A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	441	Pro-rich.						metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGGATTTAGCGCATAAAATTG	0.299													G|||	1	0.000199681	8e-04	0	5008	,	,		19640	0		0	False		,,,				2504	0															0			2											59	61	61					2																	113080462		1799	4067	5866	112796933	SO:0001819	synonymous_variant	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1323G>A	2.37:g.113080462G>A			112796933	A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	CCDS46393.1																																																																																				0.299	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		A	113080462	G	A	113080462	2	1	351	1	0	0	0	0	0	0	0	1	17571	1074	38	1		1	ZC3H6	2	113080462	Silent	SNP	G	TCGA-29-1778-01A-01W-0639-09	85379448	113080462	130118911	7	19107											
ANKAR	150709	genome.wustl.edu	37	2	190571736	190571736	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr2:190571736C>T	ENST00000520309.1	+	9	2071	c.1983C>T	c.(1981-1983)atC>atT	p.I661I	ANKAR_ENST00000431575.2_Silent_p.I590I|ANKAR_ENST00000313581.4_Silent_p.I661I|ANKAR_ENST00000438402.2_Silent_p.I661I|ANKAR_ENST00000281412.6_Silent_p.I425I	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	661						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTTTTCTATCGGTGCTAACT	0.313																																																0			2											82	81	81					2																	190571736		2203	4300	6503	190279981	SO:0001819	synonymous_variant	150709			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1983C>T	2.37:g.190571736C>T			190279981	Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	CCDS33351.2																																																																																				0.313	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		T	190571736	C	T	190571736	2	4	351	1	0	0	0	0	0	0	0	1	623	874	31	1		1	ANKAR	2	190571736	Silent	SNP	C	TCGA-29-1778-01A-01W-0639-09	77491274	190571736	52627637	8	19108											
ANKRD28	23243	genome.wustl.edu	37	3	15778600	15778600	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr3:15778600G>A	ENST00000399451.2	-	5	769	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ANKRD28_ENST00000383777.1_Silent_p.N167N|RN7SL4P_ENST00000584058.1_RNA|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	134						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GATCAGATACGTTTACATTAC	0.428																																																0			3											161	153	156					3																	15778600		1957	4152	6109	15753604	SO:0001819	synonymous_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.402C>T	3.37:g.15778600G>A			15753604	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	37	CCDS46769.1																																																																																				0.428	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		A	15778600	G	A	15778600	2	1	351	1	0	0	0	0	0	0	0	1	656	1136	40	1		1	ANKRD28	3	15778600	Silent	SNP	G	TCGA-29-1778-01A-01W-0639-09		15778600	182243830	9	19109											
PHLDB2	90102	genome.wustl.edu	37	3	111603031	111603031	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr3:111603031A>G	ENST00000431670.2	+	2	518	c.107A>G	c.(106-108)gAg>gGg	p.E36G	PHLDB2_ENST00000412622.1_Missense_Mutation_p.E36G|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E63G|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E36G|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E36G|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E36G|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E36G	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	36						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AACATGATGGAGAGCCTCAGC	0.433																																																0			3											146	148	147					3																	111603031		2203	4300	6503	113085721	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.107A>G	3.37:g.111603031A>G	ENSP00000405405:p.Glu36Gly		113085721	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032682	0.75504	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.38077	1.16;1.22;1.18;1.19;1.22;1.18	5.87	5.87	0.94306	.	0.194603	0.47852	D	0.000218	T	0.48909	0.1526	L	0.50333	1.59	0.44531	D	0.99748	P;P;D;P;P	0.55605	0.682;0.925;0.972;0.787;0.868	B;P;P;B;B	0.56398	0.115;0.621;0.797;0.23;0.359	T	0.49409	-0.8943	10	0.87932	D	0	.	14.0962	0.65023	1.0:0.0:0.0:0.0	.	36;36;36;36;63	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	G	63;63;36;36;36;36;36;36;36	ENSP00000377500:E63G;ENSP00000405405:E36G;ENSP00000405292:E36G;ENSP00000418296:E36G;ENSP00000377502:E36G;ENSP00000418319:E36G	ENSP00000352764:E63G	E	+	2	0	PHLDB2	113085721	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	6.104000	0.71498	2.371000	0.80710	0.533000	0.62120	GAG		0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		G	111603031	A	G	111603031	3	3	351	1	0	0	0	0	1	0	0	0	11852	304	11	4	194	4	PHLDB2	3	111603031	Missense_Mutation	SNP	A	TCGA-29-1778-01A-01W-0639-09	95824431	111603031	86419399	10	19110											
NCEH1	57552	genome.wustl.edu	37	3	172351333	172351333	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr3:172351333G>A	ENST00000475381.1	-	5	1392	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	NCEH1_ENST00000538775.1_Missense_Mutation_p.P427S|NCEH1_ENST00000543711.1_Missense_Mutation_p.P254S|NCEH1_ENST00000273512.3_Missense_Mutation_p.P419S			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	387					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AAGTTGGTGGGCCAGCTAGTG	0.498																																																0			3											110	103	106					3																	172351333		2203	4300	6503	173834027	SO:0001583	missense	57552			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.1159C>T	3.37:g.172351333G>A	ENSP00000418571:p.Pro387Ser		173834027	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37		.	.	.	.	.	.	.	.	.	.	G	25.7	4.669768	0.88348	.	.	ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711	T;T;T;T	0.08458	3.57;3.52;3.52;3.09	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.04885	-1.0920	10	0.54805	T	0.06	-32.0214	19.8155	0.96566	0.0:0.0:1.0:0.0	.	427;387	F5H7K4;Q6PIU2	.;NCEH1_HUMAN	S	387;427;419;254	ENSP00000418571:P387S;ENSP00000442464:P427S;ENSP00000273512:P419S;ENSP00000443227:P254S	ENSP00000273512:P419S	P	-	1	0	NCEH1	173834027	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.471000	0.97696	2.679000	0.91253	0.585000	0.79938	CCC		0.498	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		A	172351333	G	A	172351333	3	1	351	1	0	0	0	0	1	0	0	0	10215	1203	42	2	71	2	NCEH1	3	172351333	Missense_Mutation	SNP	G	TCGA-29-1778-01A-01W-0639-09	60748302	172351333	25671097	11	19111											
RBM47	54502	genome.wustl.edu	37	4	40440557	40440557	+	Nonsense_Mutation	SNP	G	G	C			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr4:40440557G>C	ENST00000381793.2	-	3	750	c.354C>G	c.(352-354)taC>taG	p.Y118*	RBM47_ENST00000319592.4_Nonsense_Mutation_p.Y118*|RBM47_ENST00000514014.1_Nonsense_Mutation_p.Y80*|RBM47_ENST00000381795.6_Nonsense_Mutation_p.Y118*|RBM47_ENST00000295971.7_Nonsense_Mutation_p.Y118*|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	118	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCTTGTGGCAGTACATGACGA	0.647																																																0			4											65	56	59					4																	40440557		2203	4300	6503	40135314	SO:0001587	stop_gained	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.354C>G	4.37:g.40440557G>C	ENSP00000371212:p.Tyr118*		40135314	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Nonsense_Mutation	SNP	ENST00000381793.2	37	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624690	0.96660	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782;ENST00000507180	.	.	.	5.58	4.73	0.59995	.	0.056273	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-16.8838	14.732	0.69388	0.0706:0.0:0.9294:0.0	.	.	.	.	X	118;118;118;118;80;118;118;118;118;118	.	ENSP00000295971:Y118X	Y	-	3	2	RBM47	40135314	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.926000	0.63433	2.635000	0.89317	0.313000	0.20887	TAC		0.647	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		C	40440557	G	C	40440557	4	2	351	1	0	0	0	0	0	1	0	0	13144	1024	36	3	1443	3	RBM47	4	40440557	Nonsense_Mutation	SNP	G	TCGA-29-1778-01A-01W-0639-09		40440557	150713719	12	19112											
AGA	175	genome.wustl.edu	37	4	178363508	178363508	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr4:178363508G>A	ENST00000264595.2	-	1	149	c.22C>T	c.(22-24)Cct>Tct	p.P8S	AGA_ENST00000506853.1_5'UTR|RP11-130F10.1_ENST00000507023.1_RNA	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	8					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGAAGCACAGGCAAGTTCGAC	0.612																																																0			4											76	67	70					4																	178363508		2203	4300	6503	178600502	SO:0001583	missense	175			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.22C>T	4.37:g.178363508G>A	ENSP00000264595:p.Pro8Ser		178600502	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	1.850	-0.465253	0.04476	.	.	ENSG00000038002	ENST00000264595	D	0.86769	-2.17	5.6	1.77	0.24775	.	1.838580	0.02297	N	0.070856	T	0.70868	0.3273	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61540	-0.7042	10	0.07644	T	0.81	1.2552	1.9327	0.03331	0.232:0.1362:0.4915:0.1403	.	8	P20933	ASPG_HUMAN	S	8	ENSP00000264595:P8S	ENSP00000264595:P8S	P	-	1	0	AGA	178600502	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.061000	0.14366	0.005000	0.14708	-0.150000	0.13652	CCT		0.612	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		A	178363508	G	A	178363508	3	1	351	1	0	0	0	0	1	0	0	0	365	1203	42	2	1054	2	AGA	4	178363508	Missense_Mutation	SNP	G	TCGA-29-1778-01A-01W-0639-09	137922951	178363508	12790768	13	19113											
KIAA0408	9729	genome.wustl.edu	37	6	127768161	127768161	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr6:127768161T>C	ENST00000483725.3	-	5	1639	c.1303A>G	c.(1303-1305)Aat>Gat	p.N435D	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	435										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGCTTCTCATTCCTTGTAGTC	0.398																																																0			6											67	71	69					6																	127768161		2203	4299	6502	127809854	SO:0001583	missense	9729			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1303A>G	6.37:g.127768161T>C	ENSP00000435150:p.Asn435Asp		127809854	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507612	0.44558	.	.	ENSG00000189367	ENST00000465254;ENST00000483725	T	0.57752	0.38	5.18	5.18	0.71444	.	0.000000	0.42420	U	0.000720	T	0.60327	0.2260	M	0.66939	2.045	0.42098	D	0.991324	D	0.65815	0.995	D	0.62955	0.909	T	0.66988	-0.5784	10	0.87932	D	0	-15.2607	13.6139	0.62097	0.0:0.0:0.0:1.0	.	435	Q6ZU52	K0408_HUMAN	D	24;435	ENSP00000435150:N435D	ENSP00000436178:N24D	N	-	1	0	KIAA0408	127809854	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	6.774000	0.75012	1.953000	0.56701	0.533000	0.62120	AAT		0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		C	127768161	T	C	127768161	3	2	351	1	0	0	0	0	1	0	0	0	8174	1783	62	4	789	4	KIAA0408	6	127768161	Missense_Mutation	SNP	T	TCGA-29-1778-01A-01W-0639-09		127768161	43346906	14	19114											
BZW2	28969	genome.wustl.edu	37	7	16705117	16705117	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr7:16705117C>T	ENST00000433922.2	+	2	227	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	BZW2_ENST00000452975.2_Missense_Mutation_p.R17W|BZW2_ENST00000405202.1_Intron|BZW2_ENST00000258761.3_Missense_Mutation_p.R17W|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	17					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		GTTCAAAACTCGGAAAAGGGG	0.378																																																0			7											54	57	56					7																	16705117		2203	4300	6503	16671642	SO:0001583	missense	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.49C>T	7.37:g.16705117C>T	ENSP00000397249:p.Arg17Trp		16671642	A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	c	14.97	2.695476	0.48202	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.44	3.58	0.41010	.	0.270213	0.32002	N	0.006726	T	0.64216	0.2578	M	0.85945	2.785	0.53005	D	0.999967	D;D;D	0.89917	1.0;0.999;0.995	D;D;P	0.75020	0.985;0.928;0.717	T	0.66732	-0.5849	10	0.87932	D	0	-8.158	9.5215	0.39138	0.43:0.4561:0.1139:0.0	.	17;17;17	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	W	17	ENSP00000403481:R17W;ENSP00000258761:R17W;ENSP00000397249:R17W;ENSP00000411715:R17W;ENSP00000412750:R17W;ENSP00000415924:R17W;ENSP00000416531:R17W	ENSP00000258761:R17W	R	+	1	2	BZW2	16671642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.760000	0.38430	0.738000	0.32606	0.651000	0.88453	CGG		0.378	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		T	16705117	C	T	16705117	3	4	351	1	0	0	0	0	1	0	0	0	1579	875	31	1	51	1	BZW2	7	16705117	Missense_Mutation	SNP	C	TCGA-29-1778-01A-01W-0639-09		16705117	142433546	15	19115											
CROT	54677	genome.wustl.edu	37	7	87011244	87011244	+	Missense_Mutation	SNP	A	A	G	rs536903511	byFrequency	TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr7:87011244A>G	ENST00000331536.3	+	11	1182	c.997A>G	c.(997-999)Atg>Gtg	p.M333V	CROT_ENST00000419147.2_Missense_Mutation_p.M361V|CROT_ENST00000442291.1_Missense_Mutation_p.M333V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	333					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTTTGATGCAATGATTATGGT	0.303													A|||	2	0.000399361	0.0015	0	5008	,	,		16436	0		0	False		,,,				2504	0															0			7											109	108	109					7																	87011244		2203	4297	6500	86849180	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.997A>G	7.37:g.87011244A>G	ENSP00000331981:p.Met333Val		86849180	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784253	0.70222	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88277	-2.36;-2.36;-2.36	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	L	0.52011	1.625	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.55260	0.772;0.464	D	0.85855	0.1406	10	0.02654	T	1	-19.9845	14.8035	0.69935	1.0:0.0:0.0:0.0	.	361;333	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	361;333;333	ENSP00000413575:M361V;ENSP00000331981:M333V;ENSP00000411983:M333V	ENSP00000331981:M333V	M	+	1	0	CROT	86849180	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.440000	0.90311	2.159000	0.67721	0.383000	0.25322	ATG		0.303	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		G	87011244	A	G	87011244	3	3	351	1	0	0	0	0	1	0	0	0	3894	101	4	4	1119	4	CROT	7	87011244	Missense_Mutation	SNP	A	TCGA-29-1778-01A-01W-0639-09	70306127	87011244	72127419	16	19116											
NRCAM	4897	genome.wustl.edu	37	7	107834872	107834872	+	Splice_Site	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr7:107834872C>T	ENST00000425651.2	-	13	1463	c.1464G>A	c.(1462-1464)tgG>tgA	p.W488*	NRCAM_ENST00000379022.4_Splice_Site_p.W488*|NRCAM_ENST00000351718.4_Splice_Site_p.W482*|NRCAM_ENST00000413765.2_Splice_Site_p.W469*|NRCAM_ENST00000379028.3_Splice_Site_p.W488*|NRCAM_ENST00000379024.4_Splice_Site_p.W469*	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	488	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTCCTTTAAACCTTCATTACA	0.333																																																0			7											35	33	34					7																	107834872		2203	4299	6502	107622108	SO:0001630	splice_region_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1464-1G>A	7.37:g.107834872C>T			107622108	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	43	10.014315	0.99318	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	488;488;469;488;482;469;488;488;482	.	ENSP00000325269:W482X	W	-	3	0	NRCAM	107622108	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.294000	0.78760	2.832000	0.97577	0.655000	0.94253	TGG		0.333	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	Nonsense_Mutation	T	107834872	C	T	107834872	5	4	351	1	0	0	0	0	0	0	1	0	10644	521	18	2	2552	2	NRCAM	7	107834872	Splice_Site	SNP	C	TCGA-29-1778-01A-01W-0639-09	20823628	107834872	51303791	17	19117											
CCIN	881	genome.wustl.edu	37	9	36170089	36170089	+	Missense_Mutation	SNP	C	C	T	rs566301509		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:36170089C>T	ENST00000335119.2	+	1	701	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	197	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GAAGACCAGGCGCTCAGCGCA	0.502																																																0			9											61	59	60					9																	36170089		2203	4300	6503	36160089	SO:0001583	missense	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.590C>T	9.37:g.36170089C>T	ENSP00000334996:p.Ala197Val		36160089	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	C	4.487	0.090205	0.08632	.	.	ENSG00000185972	ENST00000335119	T	0.61158	0.13	5.55	5.55	0.83447	BTB/Kelch-associated (2);	0.000000	0.52532	D	0.000075	T	0.34366	0.0895	N	0.17082	0.46	0.39021	D	0.959748	B	0.33612	0.419	B	0.23574	0.047	T	0.38243	-0.9670	10	0.02654	T	1	-6.3303	14.9883	0.71365	0.0:1.0:0.0:0.0	.	197	Q13939	CALI_HUMAN	V	197	ENSP00000334996:A197V	ENSP00000334996:A197V	A	+	2	0	CCIN	36160089	0.893000	0.30496	0.995000	0.50966	0.983000	0.72400	1.506000	0.35747	2.607000	0.88179	0.563000	0.77884	GCG		0.502	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		T	36170089	C	T	36170089	3	4	351	1	0	0	0	0	1	0	0	0	2878	768	27	1	592	1	CCIN	9	36170089	Missense_Mutation	SNP	C	TCGA-29-1778-01A-01W-0639-09		36170089	105043342	18	19118											
GRIN3A	116443	genome.wustl.edu	37	9	104335629	104335629	+	Silent	SNP	G	G	T	rs145862529		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:104335629G>T	ENST00000361820.3	-	9	3775	c.3175C>A	c.(3175-3177)Cgg>Agg	p.R1059R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1059					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTGGTGGTCCGCAAGGCAGGG	0.527																																																0			9						G		0,4406		0,0,2203	123	112	116		3175	4.5	0.9	9	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRIN3A	NM_133445.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		1059/1116	104335629	1,13005	2203	4300	6503	103375450	SO:0001819	synonymous_variant	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3175C>A	9.37:g.104335629G>T			103375450	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104335629	G	T	104335629	2	4	351	1	0	0	0	0	0	0	0	1	6783	1086	38	3		3	GRIN3A	9	104335629	Silent	SNP	G	TCGA-29-1778-01A-01W-0639-09	68165540	104335629	36877802	19	19119											
EPB41L4B	54566	genome.wustl.edu	37	9	112042145	112042145	+	Silent	SNP	C	C	G			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:112042145C>G	ENST00000374566.3	-	2	880	c.363G>C	c.(361-363)gtG>gtC	p.V121V	EPB41L4B_ENST00000374557.4_Silent_p.V121V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	121	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCTGTTTCCACAAGGTCCA	0.433																																																0			9											118	114	115					9																	112042145		1954	4151	6105	111081966	SO:0001819	synonymous_variant	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.363G>C	9.37:g.112042145C>G			111081966	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	CCDS43859.1																																																																																				0.433	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		G	112042145	C	G	112042145	2	3	351	1	0	0	0	0	0	0	0	1	5156	581	21	3		3	EPB41L4B	9	112042145	Silent	SNP	C	TCGA-29-1778-01A-01W-0639-09	7706516	112042145	29171286	20	19120											
LCN9	392399	genome.wustl.edu	37	9	138557549	138557549	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572																																																0			9											44	44	44					9																	138557549		1925	4121	6046	137697370	SO:0001819	synonymous_variant	392399			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"Lipocalins"	17442	protein-coding gene	gene with protein product	"MUP-like lipocalin", "epididymal-specific lipocalin-9"	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.426C>T	9.37:g.138557549C>T			137697370	C9J5F0|Q6JVE7	Silent	SNP	ENST00000277526.3	37	CCDS56593.1																																																																																				0.572	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		T	138557549	C	T	138557549	2	4	351	1	0	0	0	0	0	0	0	1	8687	776	27	1		1	LCN9	9	138557549	Silent	SNP	C	TCGA-29-1778-01A-01W-0639-09	26515404	138557549	2655882	21	19121											
FAM160B1	57700	genome.wustl.edu	37	10	116621238	116621238	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr10:116621238A>C	ENST00000369248.4	+	17	2572	c.2237A>C	c.(2236-2238)gAg>gCg	p.E746A	FAM160B1_ENST00000369250.3_Intron	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	746										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTGTTAGAAGAGTTCTGTAAG	0.398																																																0			10											136	124	128					10																	116621238		2203	4300	6503	116611228	SO:0001583	missense	57700			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.2237A>C	10.37:g.116621238A>C	ENSP00000358251:p.Glu746Ala		116611228	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529188	0.85706	.	.	ENSG00000151553	ENST00000369248	T	0.52057	0.68	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74244	-0.3728	10	0.87932	D	0	-23.7223	16.3871	0.83514	1.0:0.0:0.0:0.0	.	746	Q5W0V3	F16B1_HUMAN	A	746	ENSP00000358251:E746A	ENSP00000358251:E746A	E	+	2	0	FAM160B1	116611228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.300000	0.96151	2.270000	0.75569	0.482000	0.46254	GAG		0.398	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		C	116621238	A	C	116621238	3	2	351	1	0	0	0	0	1	0	0	0	5470	304	11	5	2303	5	FAM160B1	10	116621238	Missense_Mutation	SNP	A	TCGA-29-1778-01A-01W-0639-09		116621238	18913509	22	19122											
KRTAP5-5	439915	genome.wustl.edu	37	11	1651615	1651615	+	Missense_Mutation	SNP	A	A	G	rs576867883|rs74396270|rs71025765		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr11:1651615A>G	ENST00000399676.2	+	1	583	c.545A>G	c.(544-546)tAc>tGc	p.Y182C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	182	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.Y182_P191delYCCQSSCCKP(1)|p.Y192_P201delYCCQSSCCKP(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTAAGCCTTACTGCTGCCAG	0.592																																																2	Deletion - In frame(2)	urinary_tract(1)|ovary(1)	11											65	74	71					11																	1651615		2200	4292	6492	1608191	SO:0001583	missense	439915			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.545A>G	11.37:g.1651615A>G	ENSP00000382584:p.Tyr182Cys		1608191	A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	a	0.771	-0.765830	0.02974	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01335	5.0	3.69	0.448	0.16614	.	.	.	.	.	T	0.00496	0.0016	N	0.00453	-1.485	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.44065	-0.9352	8	0.37606	T	0.19	.	3.2614	0.06850	0.1044:0.1706:0.5496:0.1753	.	182	Q701N2	KRA55_HUMAN	C	182;153	ENSP00000382584:Y182C	ENSP00000382584:Y182C	Y	+	2	0	KRTAP5-5	1608191	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	1.388000	0.34442	-0.252000	0.09528	-0.366000	0.07423	TAC		0.592	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			G	1651615	A	G	1651615	3	3	351	1	0	0	0	0	1	0	0	0	8564	391	14	4	547	4	KRTAP5-5	11	1651615	Missense_Mutation	SNP	A	TCGA-29-1778-01A-01W-0639-09		1651615	133354901	23	19123											
MRGPRX4	117196	genome.wustl.edu	37	11	18195327	18195327	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr11:18195327C>T	ENST00000314254.3	+	1	944	c.524C>T	c.(523-525)aCg>aTg	p.T175M	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTGTGAAACGTCAGATTTC	0.517																																																0			11											259	244	249					11																	18195327		2199	4293	6492	18151903	SO:0001583	missense	117196			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.524C>T	11.37:g.18195327C>T	ENSP00000314042:p.Thr175Met		18151903	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876340	0.33162	.	.	ENSG00000179817	ENST00000314254	T	0.37915	1.17	2.85	-5.7	0.02421	GPCR, rhodopsin-like superfamily (1);	1.895520	0.02522	N	0.092631	T	0.40040	0.1101	M	0.74389	2.26	0.09310	N	1	D	0.53151	0.958	P	0.47864	0.559	T	0.52056	-0.8626	10	0.36615	T	0.2	.	4.2616	0.10744	0.6259:0.1918:0.0:0.1824	.	175	Q96LA9	MRGX4_HUMAN	M	175	ENSP00000314042:T175M	ENSP00000314042:T175M	T	+	2	0	MRGPRX4	18151903	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.716000	0.04991	-1.019000	0.03358	0.430000	0.28490	ACG		0.517	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		T	18195327	C	T	18195327	3	4	351	1	0	0	0	0	1	0	0	0	9769	536	19	1	526	1	MRGPRX4	11	18195327	Missense_Mutation	SNP	C	TCGA-29-1778-01A-01W-0639-09	16543712	18195327	116811189	24	19124											
MMP12	4321	genome.wustl.edu	37	11	102738091	102738091	+	RNA	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr11:102738091G>A	ENST00000532855.1	-	0	916							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAATTGTCAGGATTTGGCAA	0.403																																																0			11											130	123	125					11																	102738091		1851	4098	5949	102243301			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738091G>A			102243301	B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37																																																																																					0.403	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		A	102738091	G	A	102738091	1	1	351	0	1	0	0	0	0	0	0	0	9651	1000	35	2		2	MMP12	11	102738091	RNA	SNP	G	TCGA-29-1778-01A-01W-0639-09	84542764	102738091	32268425	25	19125											
MLL	4297	genome.wustl.edu	37	11	118359434	118359434	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr11:118359434A>G	ENST00000389506.5	+	11	4438	c.4438A>G	c.(4438-4440)Aaa>Gaa	p.K1480E	KMT2A_ENST00000534358.1_Missense_Mutation_p.K1480E|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1442E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1480					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCGTCGTTGCAAATTCTGTCA	0.478																																																0			11											119	101	107					11																	118359434		2200	4296	6496	117864644	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4438A>G	11.37:g.118359434A>G	ENSP00000374157:p.Lys1480Glu		117864644	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454932	0.63290	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.052533	0.85682	D	0.000000	D	0.90202	0.6937	M	0.65975	2.015	0.49582	D	0.999801	D;D	0.57257	0.959;0.979	P;P	0.52909	0.713;0.604	D	0.91325	0.5085	10	0.72032	D	0.01	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	1480;1480	E9PQG7;Q03164	.;MLL1_HUMAN	E	1480;1480;1442;390;192	ENSP00000436786:K1480E;ENSP00000374157:K1480E;ENSP00000346516:K1442E;ENSP00000376612:K192E	ENSP00000346516:K1442E	K	+	1	0	MLL	117864644	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.323000	0.59221	2.222000	0.72286	0.533000	0.62120	AAA		0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		G	118359434	A	G	118359434	3	3	351	1	0	0	0	0	1	0	0	0	9620	131	5	4	4480	4	MLL	11	118359434	Missense_Mutation	SNP	A	TCGA-29-1778-01A-01W-0639-09	15621343	118359434	16647082	26	19126											
ZCCHC8	55596	genome.wustl.edu	37	12	122958437	122958437	+	Silent	SNP	C	C	T	rs377551940		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr12:122958437C>T	ENST00000336229.4	-	14	1861	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	ZCCHC8_ENST00000538116.1_Silent_p.T188T|ZCCHC8_ENST00000536306.1_Silent_p.T339T|ZCCHC8_ENST00000543897.1_Silent_p.T339T	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	577					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GCTCATCCAGCGTCTGCTTTT	0.483																																																0			12						C		1,3901		0,1,1950	213	208	209		1731	1.7	0	12		209	0,8306		0,0,4153	no	coding-synonymous	ZCCHC8	NM_017612.3		0,1,6103	TT,TC,CC		0.0,0.0256,0.0082		577/708	122958437	1,12207	1951	4153	6104	121524390	SO:0001819	synonymous_variant	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1731G>A	12.37:g.122958437C>T			121524390	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37																																																																																					0.483	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		T	122958437	C	T	122958437	2	4	351	1	0	0	0	0	0	0	0	1	17594	755	27	1		1	ZCCHC8	12	122958437	Silent	SNP	C	TCGA-29-1778-01A-01W-0639-09		122958437	10893458	27	19127											
NCOR2	9612	genome.wustl.edu	37	12	124885183	124885183	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr12:124885183G>A	ENST00000405201.1	-	15	1677	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	NCOR2_ENST00000404621.1_Silent_p.D558D|NCOR2_ENST00000429285.2_Silent_p.D558D|NCOR2_ENST00000356219.3_Silent_p.D559D|NCOR2_ENST00000404121.2_Silent_p.D129D|NCOR2_ENST00000397355.1_Silent_p.D559D			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	559					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCCTTCTCGTCGTTGTCCT	0.592																																																0			12											149	132	137					12																	124885183		1949	4148	6097	123451136	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1677C>T	12.37:g.124885183G>A			123451136	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																				0.592	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		A	124885183	G	A	124885183	2	1	351	1	0	0	0	0	0	0	0	1	10236	1136	40	1		1	NCOR2	12	124885183	Silent	SNP	G	TCGA-29-1778-01A-01W-0639-09	1926746	124885183	8966712	28	19128											
ANKLE2	23141	genome.wustl.edu	37	12	133313634	133313634	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr12:133313634G>T	ENST00000357997.5	-	8	1527	c.1438C>A	c.(1438-1440)Ctc>Atc	p.L480I	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L480I|ANKLE2_ENST00000542374.1_5'Flank|ANKLE2_ENST00000539605.1_Missense_Mutation_p.L418I	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	480					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GCTCTCAGGAGGGGCACGTAG	0.662																																																0			12											41	48	46					12																	133313634		1960	4141	6101	131823707	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1438C>A	12.37:g.133313634G>T	ENSP00000350686:p.Leu480Ile		131823707	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	g	14.61	2.586488	0.46110	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036;ENST00000545623	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.26	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.73319	2.225	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.71324	-0.4627	10	0.42905	T	0.14	-20.2631	14.4412	0.67318	0.0726:0.0:0.9274:0.0	.	480;480	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	I	418;480;480;43;250	ENSP00000446268:L418I;ENSP00000350686:L480I;ENSP00000337651:L480I;ENSP00000437585:L43I;ENSP00000438515:L250I	ENSP00000337651:L480I	L	-	1	0	ANKLE2	131823707	1.000000	0.71417	0.080000	0.20451	0.139000	0.21198	3.692000	0.54727	1.314000	0.45095	0.650000	0.86243	CTC		0.662	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			T	133313634	G	T	133313634	3	4	351	1	0	0	0	0	1	0	0	0	633	1000	35	3	1402	3	ANKLE2	12	133313634	Missense_Mutation	SNP	G	TCGA-29-1778-01A-01W-0639-09	8428451	133313634	538261	29	19129											
GABRB3	2562	genome.wustl.edu	37	15	26866597	26866597	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr15:26866597C>T	ENST00000311550.5	-	4	436	c.325G>A	c.(325-327)Gac>Aac	p.D109N	GABRB3_ENST00000541819.2_Missense_Mutation_p.D165N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D38N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D109N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D24N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	109					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACTCGATTGTCAAGCGTGAGG	0.438																																																0			15											105	102	103					15																	26866597		2203	4300	6503	24417690	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.325G>A	15.37:g.26866597C>T	ENSP00000308725:p.Asp109Asn		24417690	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102369	0.94245	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	L	0.33668	1.02	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.76575	0.988;0.945;0.945	T	0.77490	-0.2568	10	0.20519	T	0.43	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	165;109;109	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	109;165;109;38;24;24	ENSP00000308725:D109N;ENSP00000442408:D165N;ENSP00000299267:D109N;ENSP00000383049:D38N;ENSP00000439169:D24N;ENSP00000452272:D24N	ENSP00000299267:D109N	D	-	1	0	GABRB3	24417690	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	GAC		0.438	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			T	26866597	C	T	26866597	3	4	351	1	0	0	0	0	1	0	0	0	6168	826	29	2	1120	2	GABRB3	15	26866597	Missense_Mutation	SNP	C	TCGA-29-1778-01A-01W-0639-09		26866597	75664795	30	19130											
HBQ1	3049	genome.wustl.edu	37	16	231070	231070	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr16:231070G>A	ENST00000199708.2	+	3	426	c.392G>A	c.(391-393)aGc>aAc	p.S131N	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	131					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				AAGTTCCTGAGCCACGTTATC	0.662																																																0			16											57	61	59					16																	231070		2202	4299	6501	171070	SO:0001583	missense	3049			BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.392G>A	16.37:g.231070G>A	ENSP00000199708:p.Ser131Asn		171070	Q13723|Q1W6G5	Missense_Mutation	SNP	ENST00000199708.2	37	CCDS10400.1	.	.	.	.	.	.	.	.	.	.	g	8.997	0.979170	0.18812	.	.	ENSG00000086506	ENST00000199708	D	0.93953	-3.32	3.83	-0.755	0.11061	Globin-like (1);Globin, structural domain (1);	1.058630	0.07268	N	0.868588	D	0.87613	0.6221	L	0.38953	1.18	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74318	-0.3704	10	0.59425	D	0.04	-1.0507	3.9815	0.09497	0.3262:0.1756:0.4982:0.0	.	131	P09105	HBAT_HUMAN	N	131	ENSP00000199708:S131N	ENSP00000199708:S131N	S	+	2	0	HBQ1	171070	0.000000	0.05858	0.001000	0.08648	0.389000	0.30415	-0.062000	0.11674	-0.326000	0.08564	0.486000	0.48141	AGC		0.662	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	NM_005331		A	231070	G	A	231070	3	1	351	1	0	0	0	0	1	0	0	0	6986	971	34	2	402	2	HBQ1	16	231070	Missense_Mutation	SNP	G	TCGA-29-1778-01A-01W-0639-09		231070	90123683	31	19131											
ITPRIPL2	162073	genome.wustl.edu	37	16	19127325	19127325	+	Silent	SNP	C	C	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr16:19127325C>A	ENST00000381440.3	+	1	2072	c.1542C>A	c.(1540-1542)cgC>cgA	p.R514R	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	514						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGGGTCCCCGCTACCTTGCCA	0.672																																																0			16											48	51	50					16																	19127325		2197	4300	6497	19034826	SO:0001819	synonymous_variant	162073				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1542C>A	16.37:g.19127325C>A			19034826		Silent	SNP	ENST00000381440.3	37	CCDS32395.1																																																																																				0.672	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		A	19127325	C	A	19127325	2	1	351	1	0	0	0	0	0	0	0	1	7925	784	28	3		3	ITPRIPL2	16	19127325	Silent	SNP	C	TCGA-29-1778-01A-01W-0639-09	18896255	19127325	71227428	32	19132											
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	7518264	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	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	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577539	G	A	7577539	3	1	351	1	0	0	0	0	1	0	0	0	16381	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-29-1778-01A-01W-0639-09		7577539	73617671	33	19133											
USP43	124739	genome.wustl.edu	37	17	9631331	9631331	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr17:9631331C>T	ENST00000285199.7	+	15	2492	c.2396C>T	c.(2395-2397)gCa>gTa	p.A799V	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.A794V	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	799					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGCATGAAGGCACCCACCACT	0.572																																																0			17											61	65	64					17																	9631331		2038	4187	6225	9572056	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2396C>T	17.37:g.9631331C>T	ENSP00000285199:p.Ala799Val		9572056	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	7.019	0.558260	0.13436	.	.	ENSG00000154914	ENST00000285199	T	0.09255	3.0	5.17	-10.2	0.00374	.	0.746779	0.11395	N	0.568413	T	0.02848	0.0085	N	0.08118	0	0.19300	N	0.999978	B;B;B;B	0.24618	0.007;0.007;0.007;0.107	B;B;B;B	0.18871	0.004;0.006;0.006;0.023	T	0.29971	-0.9994	10	0.42905	T	0.14	0.3456	1.2864	0.02052	0.2118:0.1551:0.1831:0.45	.	794;488;799;311	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	V	799	ENSP00000285199:A799V	ENSP00000285199:A799V	A	+	2	0	USP43	9572056	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	-1.206000	0.03011	-1.434000	0.01975	-0.345000	0.07892	GCA		0.572	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		T	9631331	C	T	9631331	3	4	351	1	0	0	0	0	1	0	0	0	17074	710	25	2	2454	2	USP43	17	9631331	Missense_Mutation	SNP	C	TCGA-29-1778-01A-01W-0639-09	2053792	9631331	71563879	34	19134											
MYH4	4622	genome.wustl.edu	37	17	10351287	10351287	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr17:10351287G>A	ENST00000255381.2	-	34	4923	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1605					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGCATCCAGTGTACTCTGC	0.438																																																0			17											266	233	244					17																	10351287		2203	4300	6503	10292012	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4813C>T	17.37:g.10351287G>A			10292012		Silent	SNP	ENST00000255381.2	37	CCDS11154.1																																																																																				0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10351287	G	A	10351287	2	1	351	1	0	0	0	0	0	0	0	1	10037	1020	36	2		2	MYH4	17	10351287	Silent	SNP	G	TCGA-29-1778-01A-01W-0639-09	719956	10351287	70843923	35	19135											
C17orf98	388381	genome.wustl.edu	37	17	36997526	36997526	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr17:36997526C>T	ENST00000398575.4	-	1	182	c.117G>A	c.(115-117)gcG>gcA	p.A39A		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	39										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						AGGGCGGAATCGCCGACCACA	0.612																																																0			17											53	55	54					17																	36997526		2005	4177	6182	34251052	SO:0001819	synonymous_variant	388381			AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.117G>A	17.37:g.36997526C>T			34251052		Silent	SNP	ENST00000398575.4	37	CCDS42310.1																																																																																				0.612	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255469.2	NM_001080465		T	36997526	C	T	36997526	2	4	351	1	0	0	0	0	0	0	0	1	1893	871	31	1		1	C17orf98	17	36997526	Silent	SNP	C	TCGA-29-1778-01A-01W-0639-09	26646239	36997526	44197684	36	19136											
ADNP2	22850	genome.wustl.edu	37	18	77894040	77894040	+	Silent	SNP	A	A	G	rs201578344		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr18:77894040A>G	ENST00000262198.4	+	4	1199	c.744A>G	c.(742-744)agA>agG	p.R248R		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	248					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATAAGCTTAGATCTGTGATTT	0.428													A|||	1	0.000199681	0	0.0014	5008	,	,		22136	0		0	False		,,,				2504	0															0			18											75	76	76					18																	77894040		2203	4300	6503	75995031	SO:0001819	synonymous_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.744A>G	18.37:g.77894040A>G			75995031	A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	CCDS32853.1																																																																																				0.428	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		G	77894040	A	G	77894040	2	3	351	1	0	0	0	0	0	0	0	1	324	330	12	4		4	ADNP2	18	77894040	Silent	SNP	A	TCGA-29-1778-01A-01W-0639-09		77894040	183208	37	19137											
ICAM4	3386	genome.wustl.edu	37	19	10398777	10398777	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr19:10398777G>A	ENST00000380770.3	+	3	859	c.813G>A	c.(811-813)gcG>gcA	p.A271A	ICAM4_ENST00000393717.2_3'UTR|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.V246I	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	271					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGTCCCAGGCGTAAAGGGGGA	0.547																																																0			19											81	80	80					19																	10398777		2203	4300	6503	10259777	SO:0001819	synonymous_variant	3386			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5347	protein-coding gene	gene with protein product		614088	"intercellular adhesion molecule 4, Landsteiner-Wiener blood group", "Landsteiner-Wiener blood group", "intercellular adhesion molecule 4 (LW blood group)"	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.813G>A	19.37:g.10398777G>A			10259777	A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	g	11.98	1.800333	0.31869	.	.	ENSG00000105371	ENST00000340992	T	0.26373	1.74	3.4	-6.28	0.02020	.	651.791000	0.01653	U	0.024673	T	0.17789	0.0427	.	.	.	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.33624	-0.9861	9	0.87932	D	0	3.4188	6.6842	0.23136	0.6589:0.1458:0.1952:0.0	.	246	Q9BWR0	.	I	246	ENSP00000342114:V246I	ENSP00000342114:V246I	V	+	1	0	ICAM4	10259777	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.695000	0.00828	-1.189000	0.02702	-0.988000	0.02552	GTA		0.547	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		A	10398777	G	A	10398777	2	1	351	1	0	0	0	0	0	0	0	1	7482	1145	40	1		1	ICAM4	19	10398777	Silent	SNP	G	TCGA-29-1778-01A-01W-0639-09		10398777	48730206	38	19138											
SLC24A3	57419	genome.wustl.edu	37	20	19261697	19261697	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr20:19261697C>T	ENST00000328041.6	+	2	434	c.237C>T	c.(235-237)gcC>gcT	p.A79A	RP5-1027G4.3_ENST00000319682.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	79					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A79A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCGAAGATGCCGGACTCCGGA	0.547																																																1	Substitution - coding silent(1)	endometrium(1)	20											153	126	135					20																	19261697		2203	4300	6503	19209697	SO:0001819	synonymous_variant	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.237C>T	20.37:g.19261697C>T			19209697	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	ENST00000328041.6	37	CCDS13140.1																																																																																				0.547	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		T	19261697	C	T	19261697	2	4	351	1	0	0	0	0	0	0	0	1	14470	639	23	1		1	SLC24A3	20	19261697	Silent	SNP	C	TCGA-29-1778-01A-01W-0639-09		19261697	43763823	39	19139											
CDH4	1002	genome.wustl.edu	37	20	60427938	60427938	+	Silent	SNP	C	C	T	rs2229574	byFrequency	TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr20:60427938C>T	ENST00000360469.5	+	6	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_ENST00000543233.1_Silent_p.D213D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	287	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCGTGGACGAGGGCTCCA	0.597													C|||	10	0.00199681	0	0.0043	5008	,	,		19177	0.001		0.005	False		,,,				2504	0.001															0			20						C		4,4402	8.1+/-20.4	0,4,2199	203	165	178		861	1.1	1	20	dbSNP_134	178	51,8549	33.3+/-86.6	0,51,4249	no	coding-synonymous	CDH4	NM_001794.2		0,55,6448	TT,TC,CC		0.593,0.0908,0.4229		287/917	60427938	55,12951	2203	4300	6503	59861333	SO:0001819	synonymous_variant	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.861C>T	20.37:g.60427938C>T			59861333	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																				0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60427938	C	T	60427938	2	4	351	1	0	0	0	0	0	0	0	1	3112	535	19	1		1	CDH4	20	60427938	Silent	SNP	C	TCGA-29-1778-01A-01W-0639-09	41166241	60427938	2597582	40	19140											
ENOX2	10495	genome.wustl.edu	37	X	129801583	129801583	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chrX:129801583G>A	ENST00000370927.1	-	6	936	c.915C>T	c.(913-915)aaC>aaT	p.N305N	ENOX2_ENST00000370935.1_Silent_p.N276N|ENOX2_ENST00000394363.1_Silent_p.N276N|ENOX2_ENST00000338144.3_Silent_p.N305N			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	305					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CAGCTTTCTCGTTCACCAGGC	0.498																																					Ovarian(101;828 1506 2951 9500 35258)											0			X											223	205	211					X																	129801583		2203	4300	6503	129629264	SO:0001819	synonymous_variant	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.915C>T	X.37:g.129801583G>A			129629264	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	ENST00000370927.1	37	CCDS14626.1																																																																																				0.498	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		A	129801583	G	A	129801583	2	1	351	1	0	0	0	0	0	0	0	1	5127	1136	40	1		1	ENOX2	23	129801583	Silent	SNP	G	TCGA-29-1778-01A-01W-0639-09		129801583	25468977	41	19141											
GJB5	2709	genome.wustl.edu	37	1	35223210	35223210	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:35223210G>T	ENST00000338513.1	+	2	452	c.279G>T	c.(277-279)atG>atT	p.M93I	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	93					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCGTGGTCATGCACGTGGCCT	0.622																																																0			1											96	93	94					1																	35223210		2203	4300	6503	34995797	SO:0001583	missense	2709			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.279G>T	1.37:g.35223210G>T	ENSP00000340811:p.Met93Ile		34995797	Q9UPA3	Missense_Mutation	SNP	ENST00000338513.1	37	CCDS382.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108401	0.77096	.	.	ENSG00000189280	ENST00000338513	D	0.99023	-5.34	5.89	5.89	0.94794	Connexin, N-terminal (1);	0.039914	0.85682	D	0.000000	D	0.98507	0.9502	L	0.49126	1.545	0.50632	D	0.999882	P	0.45078	0.85	P	0.50934	0.654	D	0.98448	1.0590	10	0.32370	T	0.25	.	20.2566	0.98424	0.0:0.0:1.0:0.0	.	93	O95377	CXB5_HUMAN	I	93	ENSP00000340811:M93I	ENSP00000340811:M93I	M	+	3	0	GJB5	34995797	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.629000	0.67798	2.793000	0.96121	0.561000	0.74099	ATG		0.622	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		T	35223210	G	T	35223210	3	4	352	1	0	0	0	0	1	0	0	0	6411	1319	46	3	281	3	GJB5	1	35223210	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09		35223210	214027411	1	19142											
MACF1	23499	genome.wustl.edu	37	1	39908237	39908237	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:39908237C>G	ENST00000372915.3	+	76	18886	c.18799C>G	c.(18799-18801)Cat>Gat	p.H6267D	MACF1_ENST00000289893.4_Missense_Mutation_p.H4811D|MACF1_ENST00000539005.1_Missense_Mutation_p.H4179D|MACF1_ENST00000567887.1_Missense_Mutation_p.H6405D|MACF1_ENST00000564288.1_Missense_Mutation_p.H6368D|MACF1_ENST00000317713.7_Missense_Mutation_p.H4309D|MACF1_ENST00000545844.1_Missense_Mutation_p.H4309D|MACF1_ENST00000361689.2_Missense_Mutation_p.H4309D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6267					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGCAAAGCACCATGTAAGTAT	0.408																																																0			1											56	56	56					1																	39908237		2203	4300	6503	39680824	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18799C>G	1.37:g.39908237C>G	ENSP00000362006:p.His6267Asp		39680824	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.231287|4.231287	0.79688|0.79688	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.48836|.	1.44;0.8;1.44;1.44;1.44;0.8|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.78168|0.78168	0.4241|0.4241	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.85130|.	0.997;0.982|.	T|T	0.75317|0.75317	-0.3360|-0.3360	10|5	0.87932|.	D|.	0|.	.|.	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6267;4309|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	D|R	4309;6267;4309;4309;4179;4811|3312	ENSP00000439537:H4309D;ENSP00000362006:H6267D;ENSP00000354573:H4309D;ENSP00000313438:H4309D;ENSP00000444364:H4179D;ENSP00000289893:H4811D|.	ENSP00000289893:H4811D|.	H|P	+|+	1|2	0|0	MACF1|MACF1	39680824|39680824	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	4.781000|4.781000	0.62389|0.62389	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CAT|CCA		0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39908237	C	G	39908237	3	3	352	1	0	0	0	0	1	0	0	0	9144	594	21	3	19366	3	MACF1	1	39908237	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	4685027	39908237	209342384	2	19143											
HPDL	84842	genome.wustl.edu	37	1	45793631	45793631	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:45793631G>C	ENST00000334815.3	+	1	1087	c.811G>C	c.(811-813)Gag>Cag	p.E271Q		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	271					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GGAGGCCACTGAGGGGGTGGC	0.652																																																0			1											57	61	60					1																	45793631		2203	4300	6503	45566218	SO:0001583	missense	84842			BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"glyoxalase domain containing 1"	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.811G>C	1.37:g.45793631G>C	ENSP00000335060:p.Glu271Gln		45566218	B2R9B0	Missense_Mutation	SNP	ENST00000334815.3	37	CCDS519.1	.	.	.	.	.	.	.	.	.	.	G	1.225	-0.625760	0.03610	.	.	ENSG00000186603	ENST00000334815	T	0.65178	-0.14	5.14	0.936	0.19488	.	0.991402	0.08220	N	0.979380	T	0.50137	0.1598	L	0.49640	1.575	0.09310	N	1	B	0.15141	0.012	B	0.16289	0.015	T	0.40232	-0.9574	10	0.36615	T	0.2	-10.2424	1.919	0.03303	0.3109:0.14:0.4215:0.1277	.	271	Q96IR7	HPDL_HUMAN	Q	271	ENSP00000335060:E271Q	ENSP00000335060:E271Q	E	+	1	0	HPDL	45566218	0.000000	0.05858	0.002000	0.10522	0.079000	0.17450	0.188000	0.17018	0.328000	0.23435	0.561000	0.74099	GAG		0.652	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		C	45793631	G	C	45793631	3	2	352	1	0	0	0	0	1	0	0	0	7333	1291	45	3	813	3	HPDL	1	45793631	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	5885394	45793631	203456990	3	19144											
LPAR3	23566	genome.wustl.edu	37	1	85331079	85331079	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:85331079A>G	ENST00000440886.1	-	1	763	c.725T>C	c.(724-726)aTg>aCg	p.M242T	LPAR3_ENST00000370611.3_Missense_Mutation_p.M242T|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	242					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TAAGACAGTCATCACCGTCTT	0.498																																																0			1											61	47	52					1																	85331079		2203	4300	6503	85103667	SO:0001583	missense	23566			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.725T>C	1.37:g.85331079A>G	ENSP00000395389:p.Met242Thr		85103667	A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	CCDS700.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601171	0.46423	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.35236	1.32;1.32	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.08846	0.0219	N	0.02011	-0.69	0.45762	D	0.998651	D	0.53312	0.959	P	0.46796	0.527	T	0.12656	-1.0539	10	0.10377	T	0.69	.	15.0929	0.72211	1.0:0.0:0.0:0.0	.	242	Q9UBY5	LPAR3_HUMAN	T	242	ENSP00000395389:M242T;ENSP00000359643:M242T	ENSP00000359643:M242T	M	-	2	0	LPAR3	85103667	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.339000	0.72969	1.974000	0.57490	0.528000	0.53228	ATG		0.498	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		G	85331079	A	G	85331079	3	3	352	1	0	0	0	0	1	0	0	0	8906	217	8	4	344	4	LPAR3	1	85331079	Missense_Mutation	SNP	A	TCGA-29-1781-01A-01W-0633-09	39537448	85331079	163919542	4	19145											
COL11A1	1301	genome.wustl.edu	37	1	103355043	103355043	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:103355043T>A	ENST00000370096.3	-	59	4744	c.4432A>T	c.(4432-4434)Act>Tct	p.T1478S	COL11A1_ENST00000512756.1_Missense_Mutation_p.T1362S|COL11A1_ENST00000358392.2_Missense_Mutation_p.T1490S|COL11A1_ENST00000353414.4_Missense_Mutation_p.T1439S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1478	Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATCCTTGAGTTCCAGGGAGC	0.438																																																0			1											82	81	81					1																	103355043		2203	4300	6503	103127631	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4432A>T	1.37:g.103355043T>A	ENSP00000359114:p.Thr1478Ser		103127631	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.479390	0.26511	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.46	5.46	0.80206	.	0.180424	0.49305	D	0.000152	T	0.76579	0.4007	N	0.13272	0.32	0.28181	N	0.928177	B;B;B;B;B	0.24317	0.02;0.034;0.082;0.101;0.027	B;B;B;B;B	0.31946	0.027;0.059;0.085;0.138;0.037	T	0.64136	-0.6478	10	0.18710	T	0.47	.	7.6955	0.28592	0.1299:0.0:0.1523:0.7178	.	1362;1439;1490;1478;698	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	1478;1490;1439;698;1362	ENSP00000359114:T1478S;ENSP00000351163:T1490S;ENSP00000302551:T1439S;ENSP00000426533:T1362S	ENSP00000302551:T1439S	T	-	1	0	COL11A1	103127631	0.999000	0.42202	0.989000	0.46669	0.820000	0.46376	2.801000	0.47908	2.069000	0.61940	0.460000	0.39030	ACT		0.438	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103355043	T	A	103355043	3	1	352	1	0	0	0	0	1	0	0	0	3667	1725	60	5	1024	5	COL11A1	1	103355043	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09	18023964	103355043	145895578	5	19146											
PRPF38B	55119	genome.wustl.edu	37	1	109242326	109242326	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:109242326G>C	ENST00000370025.4	+	6	1594	c.1325G>C	c.(1324-1326)aGa>aCa	p.R442T	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R331T	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	442	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		agtcgaagtagaaatgcaggg	0.373																																																0			1											72	70	70					1																	109242326		2203	4300	6503	109043849	SO:0001583	missense	55119			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1325G>C	1.37:g.109242326G>C	ENSP00000359042:p.Arg442Thr		109043849	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725543	0.30593	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.21734	1.99;2.6	5.56	5.56	0.83823	.	0.087755	0.49305	D	0.000142	T	0.05640	0.0148	N	0.14661	0.345	0.32956	D	0.520435	B	0.14438	0.01	B	0.11329	0.006	T	0.21449	-1.0245	10	0.32370	T	0.25	.	12.4854	0.55871	0.0775:0.0:0.9225:0.0	.	442	Q5VTL8	PR38B_HUMAN	T	442;331	ENSP00000359042:R442T;ENSP00000359038:R331T	ENSP00000359038:R331T	R	+	2	0	PRPF38B	109043849	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.696000	0.47052	2.629000	0.89072	0.491000	0.48974	AGA		0.373	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		C	109242326	G	C	109242326	3	2	352	1	0	0	0	0	1	0	0	0	12571	942	33	3	1347	3	PRPF38B	1	109242326	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	5887283	109242326	140008295	6	19147											
AMPD1	270	genome.wustl.edu	37	1	115220125	115220125	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:115220125G>A	ENST00000520113.2	-	10	1349	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	AMPD1_ENST00000369538.3_Missense_Mutation_p.A441V|AMPD1_ENST00000353928.6_Missense_Mutation_p.A412V			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	445					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CACCAGGTCCGCACCTACCTC	0.567																																																0			1											64	56	59					1																	115220125		2203	4300	6503	115021648	SO:0001583	missense	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1334C>T	1.37:g.115220125G>A	ENSP00000430075:p.Ala445Val		115021648	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836495	0.71373	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.83075	-1.68;-1.68;-1.68	5.85	5.85	0.93711	Adenosine/AMP deaminase (1);	0.365246	0.35495	N	0.003176	T	0.66086	0.2754	N	0.24115	0.695	0.38358	D	0.944532	P;B	0.38455	0.632;0.06	B;B	0.31869	0.137;0.067	T	0.72478	-0.4281	10	0.52906	T	0.07	-0.4614	20.1775	0.98187	0.0:0.0:1.0:0.0	.	441;412	Q5TF02;P23109	.;AMPD1_HUMAN	V	445;441;412	ENSP00000430075:A445V;ENSP00000358551:A441V;ENSP00000316520:A412V	ENSP00000316520:A412V	A	-	2	0	AMPD1	115021648	0.710000	0.27896	0.979000	0.43373	0.992000	0.81027	2.477000	0.45180	2.771000	0.95319	0.561000	0.74099	GCG		0.567	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			A	115220125	G	A	115220125	3	1	352	1	0	0	0	0	1	0	0	0	585	1087	38	1	1036	1	AMPD1	1	115220125	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	5977799	115220125	134030496	7	19148											
GJA8	2703	genome.wustl.edu	37	1	147380316	147380316	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:147380316G>T	ENST00000369235.1	+	1	234	c.234G>T	c.(232-234)tgG>tgT	p.W78C	GJA8_ENST00000240986.4_Missense_Mutation_p.W78C			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	78					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TTCGCCTCTGGGTGCTGCAGA	0.627																																					Melanoma(76;1255 1795 8195 52096)											0			1											144	111	122					1																	147380316		2203	4300	6503	145846940	SO:0001583	missense	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.234G>T	1.37:g.147380316G>T	ENSP00000358238:p.Trp78Cys		145846940	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.088145	0.76642	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99545	-6.13;-6.13	5.2	5.2	0.72013	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96823	0.9605	10	0.87932	D	0	.	18.721	0.91692	0.0:0.0:1.0:0.0	.	78	P48165	CXA8_HUMAN	C	78	ENSP00000240986:W78C;ENSP00000358238:W78C	ENSP00000240986:W78C	W	+	3	0	GJA8	145846940	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.787000	0.99055	2.409000	0.81822	0.491000	0.48974	TGG		0.627	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		T	147380316	G	T	147380316	3	4	352	1	0	0	0	0	1	0	0	0	6405	1241	43	3	236	3	GJA8	1	147380316	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	32160191	147380316	101870305	8	19149											
TNFSF4	7292	genome.wustl.edu	37	1	173155805	173155805	+	Silent	SNP	A	A	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:173155805A>G	ENST00000281834.3	-	3	538	c.402T>C	c.(400-402)tcT>tcC	p.S134S	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Silent_p.S84S	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	134					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						AGGAGTTGACAGACCTGACCT	0.483																																																0			1											92	90	91					1																	173155805		2203	4300	6503	171422428	SO:0001819	synonymous_variant	7292			D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11934	protein-coding gene	gene with protein product		603594	"tax-transcriptionally activated glycoprotein 1, 34kD"	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.402T>C	1.37:g.173155805A>G			171422428	Q5JZA5|Q8IV74|Q9HCN9	Silent	SNP	ENST00000281834.3	37	CCDS1306.1																																																																																				0.483	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			G	173155805	A	G	173155805	2	3	352	1	0	0	0	0	0	0	0	1	16310	175	7	4		4	TNFSF4	1	173155805	Silent	SNP	A	TCGA-29-1781-01A-01W-0633-09	25775489	173155805	76094816	9	19150											
SMG7	9887	genome.wustl.edu	37	1	183515372	183515372	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:183515372G>A	ENST00000347615.2	+	17	2761	c.2642G>A	c.(2641-2643)aGa>aAa	p.R881K	SMG7_ENST00000456731.2_Missense_Mutation_p.R793K|SMG7_ENST00000367537.3_Missense_Mutation_p.R864K|SMG7_ENST00000507469.1_Missense_Mutation_p.R835K|SMG7_ENST00000515829.2_Missense_Mutation_p.R835K|SMG7_ENST00000508461.1_Missense_Mutation_p.R839K	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	881					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCTGATAACAGATCTGTAATG	0.488																																																0			1											80	83	82					1																	183515372		2203	4300	6503	181781995	SO:0001583	missense	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2642G>A	1.37:g.183515372G>A	ENSP00000340766:p.Arg881Lys		181781995	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246796	0.59103	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.20463	2.12;2.09;2.16;2.16;2.07;2.11	5.72	5.72	0.89469	.	0.168966	0.49916	D	0.000140	T	0.17831	0.0428	L	0.27053	0.805	0.41855	D	0.990198	P;B;B;B;B;P	0.39250	0.665;0.436;0.255;0.187;0.41;0.635	B;B;B;B;B;B	0.36464	0.169;0.121;0.104;0.152;0.104;0.225	T	0.02983	-1.1086	10	0.24483	T	0.36	-10.1623	19.8968	0.96969	0.0:0.0:1.0:0.0	.	839;864;793;835;881;835	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	K	793;864;839;881;835;835	ENSP00000407629:R793K;ENSP00000356507:R864K;ENSP00000426915:R839K;ENSP00000340766:R881K;ENSP00000425133:R835K;ENSP00000421358:R835K	ENSP00000340766:R881K	R	+	2	0	SMG7	181781995	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.302000	0.65733	2.691000	0.91804	0.655000	0.94253	AGA		0.488	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		A	183515372	G	A	183515372	3	1	352	1	0	0	0	0	1	0	0	0	14801	942	33	2	2708	2	SMG7	1	183515372	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	10359567	183515372	65735249	10	19151											
HMCN1	83872	genome.wustl.edu	37	1	186084058	186084058	+	Missense_Mutation	SNP	G	G	A	rs543213159	byFrequency	TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr1:186084058G>A	ENST00000271588.4	+	74	11613	c.11384G>A	c.(11383-11385)cGa>cAa	p.R3795Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3795Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3795	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATCGCAGGCGAATAGATTTA	0.418													G|||	2	0.000399361	0	0	5008	,	,		18816	0		0	False		,,,				2504	0.002															0			1											170	165	167					1																	186084058		2203	4300	6503	184350681	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11384G>A	1.37:g.186084058G>A	ENSP00000271588:p.Arg3795Gln		184350681	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731410	0.48939	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66995	-0.24;-0.24	5.03	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167438	0.52532	D	0.000078	T	0.65217	0.2670	N	0.16478	0.41	0.41289	D	0.986969	D	0.76494	0.999	D	0.77557	0.99	T	0.59440	-0.7454	10	0.12430	T	0.62	.	12.405	0.55434	0.0812:0.0:0.9188:0.0	.	3795	Q96RW7	HMCN1_HUMAN	Q	3795	ENSP00000271588:R3795Q;ENSP00000356462:R3795Q	ENSP00000271588:R3795Q	R	+	2	0	HMCN1	184350681	1.000000	0.71417	0.952000	0.39060	0.972000	0.66771	5.346000	0.65992	2.480000	0.83734	0.563000	0.77884	CGA		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186084058	G	A	186084058	3	1	352	1	0	0	0	0	1	0	0	0	7220	1058	37	1	11678	1	HMCN1	1	186084058	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	2568686	186084058	63166563	11	19152											
ATP6V1C2	245973	genome.wustl.edu	37	2	10912036	10912036	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:10912036T>C	ENST00000272238.4	+	7	651	c.542T>C	c.(541-543)cTc>cCc	p.L181P	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.L181P|RP11-791G15.2_ENST00000606907.1_lincRNA	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	181					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCTGAATATCTCGTCACACTT	0.547																																					NSCLC(188;1042 2136 10807 16813 47705)											0			2											177	162	167					2																	10912036		2203	4300	6503	10829487	SO:0001583	missense	245973			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.542T>C	2.37:g.10912036T>C	ENSP00000272238:p.Leu181Pro		10829487	Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313790	0.60414	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.68903	-0.36;-0.36	5.21	4.03	0.46877	.	0.122356	0.56097	D	0.000027	D	0.85248	0.5653	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87212	0.2248	10	0.87932	D	0	-0.0822	11.2299	0.48905	0.0:0.0:0.1541:0.8459	.	181;181	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	P	181	ENSP00000272238:L181P;ENSP00000371077:L181P	ENSP00000272238:L181P	L	+	2	0	ATP6V1C2	10829487	1.000000	0.71417	0.009000	0.14445	0.606000	0.37113	7.680000	0.84062	0.794000	0.33899	0.459000	0.35465	CTC		0.547	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		C	10912036	T	C	10912036	3	2	352	1	0	0	0	0	1	0	0	0	1181	1551	54	4	564	4	ATP6V1C2	2	10912036	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09		10912036	232287337	12	19153											
APOB	338	genome.wustl.edu	37	2	21259975	21259975	+	Silent	SNP	G	G	T	rs151096846		TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:21259975G>T	ENST00000233242.1	-	6	817	c.690C>A	c.(688-690)ggC>ggA	p.G230G	APOB_ENST00000399256.4_Silent_p.G230G	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	230	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTTACCATGCCTTTGATGA	0.502																																																0			2						G		0,4406		0,0,2203	146	118	128		690	4.7	1	2	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		230/4564	21259975	1,13005	2203	4300	6503	21113480	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.690C>A	2.37:g.21259975G>T			21113480	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.502	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21259975	G	T	21259975	2	4	352	1	0	0	0	0	0	0	0	1	785	1306	46	3		3	APOB	2	21259975	Silent	SNP	G	TCGA-29-1781-01A-01W-0633-09	10347939	21259975	221939398	13	19154											
TTC27	55622	genome.wustl.edu	37	2	32903968	32903968	+	Silent	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:32903968G>A	ENST00000317907.4	+	9	1329	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	366										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TAACTGAAGTGGAGCTTCTGG	0.328																																																0			2											129	121	124					2																	32903968		2203	4300	6503	32757472	SO:0001819	synonymous_variant	55622			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1098G>A	2.37:g.32903968G>A			32757472	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	CCDS33176.1																																																																																				0.328	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		A	32903968	G	A	32903968	2	1	352	1	0	0	0	0	0	0	0	1	16695	1335	47	2		2	TTC27	2	32903968	Silent	SNP	G	TCGA-29-1781-01A-01W-0633-09	11643993	32903968	210295405	14	19155											
CYP26B1	56603	genome.wustl.edu	37	2	72371321	72371321	+	Silent	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:72371321G>T	ENST00000001146.2	-	2	429	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	76					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TTCTCCCTCCGCGACGACTGG	0.662																																																0			2											66	65	65					2																	72371321		2203	4300	6503	72224829	SO:0001819	synonymous_variant	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.226C>A	2.37:g.72371321G>T			72224829	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	CCDS1919.1																																																																																				0.662	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		T	72371321	G	T	72371321	2	4	352	1	0	0	0	0	0	0	0	1	4156	1086	38	3		3	CYP26B1	2	72371321	Silent	SNP	G	TCGA-29-1781-01A-01W-0633-09	39467353	72371321	170828052	15	19156											
SLC4A10	57282	genome.wustl.edu	37	2	162719515	162719515	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:162719515C>A	ENST00000446997.1	+	6	802	c.709C>A	c.(709-711)Cgt>Agt	p.R237S	SLC4A10_ENST00000272716.5_Missense_Mutation_p.R237S|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R237S|SLC4A10_ENST00000375514.5_Missense_Mutation_p.R248S|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R237S|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R237S	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	237					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCCCATTGTTCGTTCCTTTGC	0.383																																																0			2											81	85	84					2																	162719515		1924	4151	6075	162427761	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.709C>A	2.37:g.162719515C>A	ENSP00000393066:p.Arg237Ser		162427761	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513263	0.85389	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.81	5.81	0.92471	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.095553	0.64402	D	0.000001	D	0.85331	0.5672	M	0.93375	3.41	0.80722	D	1	P;B;P;D	0.57899	0.487;0.087;0.487;0.981	B;B;B;D	0.64506	0.313;0.123;0.313;0.926	D	0.88015	0.2765	10	0.59425	D	0.04	.	15.5645	0.76281	0.1385:0.8615:0.0:0.0	.	248;237;237;237	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	S	248;237;237;237;237;237;237;237	ENSP00000364664:R248S;ENSP00000395797:R237S;ENSP00000437527:R237S;ENSP00000272716:R237S;ENSP00000393066:R237S;ENSP00000404486:R237S	ENSP00000272716:R237S	R	+	1	0	SLC4A10	162427761	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.034000	0.57289	2.759000	0.94783	0.591000	0.81541	CGT		0.383	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		A	162719515	C	A	162719515	3	1	352	1	0	0	0	0	1	0	0	0	14654	884	31	3	816	3	SLC4A10	2	162719515	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	90348194	162719515	80479858	16	19157											
SCN7A	6332	genome.wustl.edu	37	2	167269579	167269579	+	Splice_Site	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:167269579G>A	ENST00000409855.1	-	21	3593	c.3467C>T	c.(3466-3468)gCt>gTt	p.A1156V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1156					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TATACTTACAGCAACAGAATC	0.294																																																0			2											39	36	37					2																	167269579		1809	4064	5873	166977825	SO:0001630	splice_region_variant	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3468+1C>T	2.37:g.167269579G>A			166977825		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623480	0.28889	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96716	-4.1	5.32	-4.89	0.03103	Ion transport (1);	1.375840	0.04385	N	0.361482	D	0.92825	0.7718	L	0.33668	1.02	0.09310	N	1	P	0.43701	0.815	B	0.42738	0.396	D	0.87690	0.2553	10	0.56958	D	0.05	.	8.8561	0.35229	0.0:0.325:0.1867:0.4884	.	1156	Q01118	SCN7A_HUMAN	V	1156	ENSP00000386796:A1156V	ENSP00000259060:A1156V	A	-	2	0	SCN7A	166977825	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-1.169000	0.03120	-0.782000	0.04541	-0.274000	0.10170	GCT		0.294	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		Missense_Mutation	A	167269579	G	A	167269579	5	1	352	1	0	0	0	0	0	0	1	0	13926	985	34	2	1601	2	SCN7A	2	167269579	Splice_Site	SNP	G	TCGA-29-1781-01A-01W-0633-09	4550064	167269579	75929794	17	19158											
WIPF1	7456	genome.wustl.edu	37	2	175437114	175437114	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:175437114G>T	ENST00000392547.2	-	5	518	c.419C>A	c.(418-420)cCc>cAc	p.P140H	WIPF1_ENST00000409891.1_Missense_Mutation_p.P140H|WIPF1_ENST00000392546.2_Missense_Mutation_p.P140H|WIPF1_ENST00000272746.5_Missense_Mutation_p.P140H|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000359761.3_Missense_Mutation_p.P140H|WIPF1_ENST00000409415.3_Missense_Mutation_p.P140H|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	140					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGGTGAAAAGGGTTTCGCAGA	0.557																																																0			2											43	52	49					2																	175437114		2202	4297	6499	175145360	SO:0001583	missense	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.419C>A	2.37:g.175437114G>T	ENSP00000376330:p.Pro140His		175145360	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006338	0.54361	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428	T;T;T;T;T;T	0.58797	1.09;1.02;1.09;1.09;0.47;0.31	5.09	5.09	0.68999	.	0.053368	0.85682	D	0.000000	T	0.75953	0.3920	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.98;0.991;0.972	T	0.78588	-0.2146	10	0.72032	D	0.01	.	18.4457	0.90682	0.0:0.0:1.0:0.0	.	140;140;140;140	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	H	140;140;140;140;140;140;140;137	ENSP00000376330:P140H;ENSP00000272746:P140H;ENSP00000352802:P140H;ENSP00000376329:P140H;ENSP00000386431:P140H;ENSP00000387150:P140H	ENSP00000272746:P140H	P	-	2	0	WIPF1	175145360	1.000000	0.71417	0.924000	0.36721	0.012000	0.07955	8.032000	0.88838	2.519000	0.84933	0.561000	0.74099	CCC		0.557	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		T	175437114	G	T	175437114	3	4	352	1	0	0	0	0	1	0	0	0	17367	1232	43	3	1108	3	WIPF1	2	175437114	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	8167535	175437114	67762259	18	19159											
PGAP1	80055	genome.wustl.edu	37	2	197757870	197757870	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:197757870A>T	ENST00000354764.4	-	8	1141	c.1027T>A	c.(1027-1029)Tta>Ata	p.L343I	PGAP1_ENST00000409188.1_Missense_Mutation_p.L301I|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Missense_Mutation_p.L343I	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	343					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CAACCTGTTAAGTCAGAAATT	0.279																																																0			2											116	118	117					2																	197757870		2203	4300	6503	197466115	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1027T>A	2.37:g.197757870A>T	ENSP00000346809:p.Leu343Ile		197466115	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.323226	0.24080	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000409188;ENST00000374738	.	.	.	5.14	2.81	0.32909	.	0.344143	0.27080	N	0.021034	T	0.35970	0.0950	N	0.19112	0.55	0.28761	N	0.900924	D;B;D	0.69078	0.993;0.052;0.997	D;B;D	0.72625	0.952;0.033;0.978	T	0.15009	-1.0452	9	0.23891	T	0.37	-12.4948	5.9808	0.19405	0.6246:0.0:0.3754:0.0	.	301;343;343	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	I	123;343;343;301;123	.	ENSP00000346809:L343I	L	-	1	2	PGAP1	197466115	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	0.824000	0.27379	0.447000	0.26695	0.460000	0.39030	TTA		0.279	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		T	197757870	A	T	197757870	3	4	352	1	0	0	0	0	1	0	0	0	11777	69	3	5	1821	5	PGAP1	2	197757870	Missense_Mutation	SNP	A	TCGA-29-1781-01A-01W-0633-09	22320756	197757870	45441503	19	19160											
DYTN	391475	genome.wustl.edu	37	2	207516607	207516607	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:207516607C>G	ENST00000452335.2	-	12	1788	c.1672G>C	c.(1672-1674)Gct>Cct	p.A558P	AC010731.4_ENST00000543490.1_lincRNA	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	558						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ACTCGCTGAGCTCCACTGTAC	0.468																																																0			2											65	69	68					2																	207516607		2025	4199	6224	207224852	SO:0001583	missense	0			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1672G>C	2.37:g.207516607C>G	ENSP00000396593:p.Ala558Pro		207224852		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180360	0.57800	.	.	ENSG00000232125	ENST00000452335	T	0.38077	1.16	5.33	5.33	0.75918	.	.	.	.	.	T	0.49253	0.1546	L	0.29908	0.895	0.35471	D	0.79733	D	0.89917	1.0	D	0.91635	0.999	T	0.58956	-0.7544	9	0.87932	D	0	-5.9583	15.8736	0.79145	0.0:1.0:0.0:0.0	.	558	A2CJ06	DYTN_HUMAN	P	558	ENSP00000396593:A558P	ENSP00000396593:A558P	A	-	1	0	DYTN	207224852	0.993000	0.37304	0.989000	0.46669	0.141000	0.21300	3.673000	0.54591	2.777000	0.95525	0.655000	0.94253	GCT		0.468	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			G	207516607	C	G	207516607	3	3	352	1	0	0	0	0	1	0	0	0	4861	797	28	3	68	3	DYTN	2	207516607	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	9758737	207516607	35682766	20	19161											
COL6A3	1293	genome.wustl.edu	37	2	238290094	238290094	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr2:238290094G>A	ENST00000295550.4	-	5	1813	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	COL6A3_ENST00000392003.2_Missense_Mutation_p.S47F|COL6A3_ENST00000353578.4_Missense_Mutation_p.S248F|COL6A3_ENST00000409809.1_Missense_Mutation_p.S248F|COL6A3_ENST00000392004.3_Missense_Mutation_p.S248F|COL6A3_ENST00000346358.4_Missense_Mutation_p.S454F|COL6A3_ENST00000472056.1_Missense_Mutation_p.S47F|COL6A3_ENST00000347401.3_Missense_Mutation_p.S253F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	454	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCCAGTGCAGATGAGCCATC	0.483																																																0			2											40	38	39					2																	238290094		2203	4299	6502	237954833	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1361C>T	2.37:g.238290094G>A	ENSP00000295550:p.Ser454Phe		237954833	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858660	0.51376	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.53	5.53	0.82687	von Willebrand factor, type A (3);	0.265792	0.26971	N	0.021578	D	0.92573	0.7641	M	0.77712	2.385	0.09310	N	1	P;D;D;B;D;P	0.67145	0.939;0.996;0.976;0.022;0.991;0.939	P;D;D;B;D;P	0.72982	0.776;0.979;0.934;0.049;0.965;0.776	D	0.86682	0.1917	10	0.66056	D	0.02	.	19.472	0.94966	0.0:0.0:1.0:0.0	.	454;47;47;248;248;454	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	F	454;253;248;47;248;454;248;47;454	ENSP00000295550:S454F;ENSP00000315609:S253F;ENSP00000315873:S248F;ENSP00000418285:S47F;ENSP00000386844:S248F;ENSP00000295546:S454F;ENSP00000375861:S248F;ENSP00000375860:S47F;ENSP00000389539:S454F	ENSP00000295550:S454F	S	-	2	0	COL6A3	237954833	0.564000	0.26602	0.026000	0.17262	0.704000	0.40688	4.170000	0.58229	2.585000	0.87301	0.655000	0.94253	TCT		0.483	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238290094	G	A	238290094	3	1	352	1	0	0	0	0	1	0	0	0	3701	942	33	2	8379	2	COL6A3	2	238290094	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	30773487	238290094	4909279	21	19162											
C3orf20	84077	genome.wustl.edu	37	3	14763290	14763290	+	Splice_Site	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr3:14763290G>T	ENST00000253697.3	+	10	2017	c.1565G>T	c.(1564-1566)cGg>cTg	p.R522L	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Splice_Site_p.R400L|C3orf20_ENST00000412910.1_Splice_Site_p.R400L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	522						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TATGACAAACGGGTAAGGCAA	0.537																																																0			3											180	134	150					3																	14763290		2203	4300	6503	14738294	SO:0001630	splice_region_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1566+1G>T	3.37:g.14763290G>T			14738294	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147499	0.57151	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.12465	2.68;2.68;2.68	5.63	3.83	0.44106	.	0.469084	0.16313	N	0.219894	T	0.29389	0.0732	M	0.68317	2.08	0.39422	D	0.96693	D	0.71674	0.998	D	0.64237	0.923	T	0.03957	-1.0989	10	0.56958	D	0.05	-14.1332	7.9964	0.30271	0.1812:0.0:0.8188:0.0	.	522	Q8ND61	CC020_HUMAN	L	522;400;400	ENSP00000253697:R522L;ENSP00000402933:R400L;ENSP00000396081:R400L	ENSP00000253697:R522L	R	+	2	0	C3orf20	14738294	1.000000	0.71417	0.967000	0.41034	0.274000	0.26718	1.718000	0.38001	1.518000	0.48934	0.591000	0.81541	CGG		0.537	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	Missense_Mutation	T	14763290	G	T	14763290	5	4	352	1	0	0	0	0	0	0	1	0	2213	1130	39	3	1595	3	C3orf20	3	14763290	Splice_Site	SNP	G	TCGA-29-1781-01A-01W-0633-09		14763290	183259140	22	19163											
CDC25A	993	genome.wustl.edu	37	3	48207180	48207205	+	Frame_Shift_Del	DEL	CTCTTTAATGAGGTTGGCAAACTTGC	CTCTTTAATGAGGTTGGCAAACTTGC	-	rs143460181|rs565583599|rs529680138		TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	CTCTTTAATGAGGTTGGCAAACTTGC	CTCTTTAATGAGGTTGGCAAACTTGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr3:48207180_48207205delCTCTTTAATGAGGTTGGCAAACTTGC	ENST00000302506.3	-	12	1520_1545	c.1112_1137delGCAAGTTTGCCAACCTCATTAAAGAG	c.(1111-1137)ggcaagtttgccaacctcattaaagagfs	p.GKFANLIKE371fs	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Frame_Shift_Del_p.GKFANLIKE331fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	371					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TGATAACAAACTCTTTAATGAGGTTGGCAAACTTGCCATTCAAAAC	0.438																																																0			3																																								48182209	SO:0001589	frameshift_variant	993			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1112_1137delGCAAGTTTGCCAACCTCATTAAAGAG	3.37:g.48207180_48207205delCTCTTTAATGAGGTTGGCAAACTTGC	ENSP00000303706:p.Gly371fs		48182184	Q8IZH5|Q96IL3|Q9H2F2	Frame_Shift_Del	DEL	ENST00000302506.3	37	CCDS2760.1																																																																																				0.438	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		-	48207205	CTCTTTAATGAGGTTGGCAAACTTGC	-	48207180	7	5	352	1	0	1	0	1	0	0	0	0	3062	564	20	0	453	0	CDC25A	3	48207180	Frame_Shift_Del	DEL	CTCTTTAATGAGGTTGGCAAACTTGC	TCGA-29-1781-01A-01W-0633-09	33443890	48207180	149815250	23	19164											
IMPDH2	54870	genome.wustl.edu	37	3	49064165	49064165	+	IGR	SNP	A	A	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr3:49064165A>G	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Silent_p.Y258Y|RP13-131K19.6_ENST00000607245.1_RNA	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGTCCAGCCTATACTTGTCAT	0.552																																																0			3											117	104	108					3																	49064165		2203	4300	6503	49039169	SO:0001628	intergenic_variant	3615				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49064165A>G			49039169	Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	A	7.024	0.559346	0.13436	.	.	ENSG00000178035	ENST00000429182	.	.	.	5.97	-2.95	0.05564	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.0172	18.2366	0.89951	0.2147:0.0:0.7853:0.0	.	.	.	.	Q	190	.	.	X	-	1	0	IMPDH2	49039169	1.000000	0.71417	0.805000	0.32314	0.988000	0.76386	1.193000	0.32162	-0.986000	0.03498	-0.250000	0.11733	TAG		0.552	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		G	49064165	A	G	49064165	1	3	352	0	1	0	0	0	0	0	0	0	7727	456	16	4		4	IMPDH2	3	49064165	IGR	SNP	A	TCGA-29-1781-01A-01W-0633-09	856985	49064165	148958265	24	19165											
ITIH1	3697	genome.wustl.edu	37	3	52822272	52822272	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr3:52822272T>C	ENST00000273283.2	+	18	2054	c.2030T>C	c.(2029-2031)aTc>aCc	p.I677T	ITIH1_ENST00000540715.1_Missense_Mutation_p.I535T|ITIH1_ENST00000542827.1_Silent_p.H631H|ITIH1_ENST00000537050.1_Missense_Mutation_p.I389T|ITIH1_ENST00000405128.3_Missense_Mutation_p.I43T	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	677	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CACTTCATCATCCACGTGCCC	0.577																																																0			3											119	97	105					3																	52822272		2203	4299	6502	52797312	SO:0001583	missense	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2030T>C	3.37:g.52822272T>C	ENSP00000273283:p.Ile677Thr		52797312	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242378	0.79912	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.18657	4.44;4.32;4.14;3.56;2.2	5.39	5.39	0.77823	.	0.118515	0.56097	D	0.000039	T	0.51618	0.1685	M	0.86953	2.85	0.43808	D	0.996363	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.91635	0.962;0.987;0.922;0.999	T	0.60131	-0.7323	10	0.87932	D	0	-27.5232	13.6539	0.62327	0.0:0.0:0.0:1.0	.	535;43;278;677	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	T	677;535;389;230;43	ENSP00000273283:I677T;ENSP00000443973:I535T;ENSP00000443847:I389T;ENSP00000395836:I230T;ENSP00000384589:I43T	ENSP00000273283:I677T	I	+	2	0	ITIH1	52797312	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.330000	0.79181	2.043000	0.60533	0.533000	0.62120	ATC		0.577	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		C	52822272	T	C	52822272	3	2	352	1	0	0	0	0	1	0	0	0	7903	1435	50	4	2100	4	ITIH1	3	52822272	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09	3758107	52822272	145200158	25	19166											
OR5H1	26341	genome.wustl.edu	37	3	97852250	97852250	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr3:97852250G>T	ENST00000354565.2	+	1	709	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGTAAGGAAAGCCTTTTCCAC	0.403																																																0			3											108	117	114					3																	97852250		2203	4299	6502	99334940	SO:0001583	missense	26341			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.709G>T	3.37:g.97852250G>T	ENSP00000346575:p.Ala237Ser		99334940		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021643	0.35701	.	.	ENSG00000231192	ENST00000354565	T	0.00359	7.87	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000264	T	0.00724	0.0024	M	0.92691	3.335	0.23346	N	0.997864	P	0.44195	0.828	P	0.50934	0.654	T	0.07597	-1.0764	10	0.72032	D	0.01	.	12.6623	0.56822	0.0:0.0:1.0:0.0	.	237	A6NKK0	OR5H1_HUMAN	S	237	ENSP00000346575:A237S	ENSP00000346575:A237S	A	+	1	0	OR5H1	99334940	1.000000	0.71417	0.894000	0.35097	0.034000	0.12701	6.794000	0.75135	1.818000	0.53035	0.195000	0.17529	GCC		0.403	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		T	97852250	G	T	97852250	3	4	352	1	0	0	0	0	1	0	0	0	11159	971	34	3	711	3	OR5H1	3	97852250	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	45029978	97852250	100170180	26	19167											
CASR	846	genome.wustl.edu	37	3	122002555	122002555	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr3:122002555G>T	ENST00000490131.1	+	7	2126	c.1754G>T	c.(1753-1755)tGc>tTc	p.C585F	CASR_ENST00000498619.1_Missense_Mutation_p.C595F|CASR_ENST00000296154.5_Missense_Mutation_p.C585F|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	585					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTAACAAGTGCCCAGATGAC	0.502																																																0			3											106	92	97					3																	122002555		2203	4300	6503	123485245	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1754G>T	3.37:g.122002555G>T	ENSP00000418685:p.Cys585Phe		123485245	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.794150	0.70452	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.95821	-3.82;-3.82;-3.82	5.91	5.91	0.95273	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.98686	0.9559	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.99316	1.0905	10	0.87932	D	0	.	19.2828	0.94058	0.0:0.0:1.0:0.0	.	595;585	E7ENE0;P41180	.;CASR_HUMAN	F	585;595;585	ENSP00000418685:C585F;ENSP00000420194:C595F;ENSP00000296154:C585F	ENSP00000296154:C585F	C	+	2	0	CASR	123485245	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.804000	0.96469	0.462000	0.41574	TGC		0.502	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	122002555	G	T	122002555	3	4	352	1	0	0	0	0	1	0	0	0	2682	1319	46	3	1806	3	CASR	3	122002555	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	24150305	122002555	76019875	27	19168											
SHROOM3	57619	genome.wustl.edu	37	4	77661479	77661479	+	Missense_Mutation	SNP	G	G	C	rs114419726	byFrequency	TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr4:77661479G>C	ENST00000296043.6	+	5	3106	c.2153G>C	c.(2152-2154)cGg>cCg	p.R718P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	718					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CATCTGGACCGGCAGGTTTCC	0.677																																																0			4											42	52	49					4																	77661479		2166	4245	6411	77880503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2153G>C	4.37:g.77661479G>C	ENSP00000296043:p.Arg718Pro		77880503	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	g	11.62	1.692638	0.30052	.	.	ENSG00000138771	ENST00000296043	T	0.32515	1.45	5.65	3.92	0.45320	.	0.388239	0.22949	N	0.053685	T	0.26159	0.0638	L	0.53249	1.67	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.13361	-1.0512	10	0.30854	T	0.27	-18.5867	7.8735	0.29580	0.1508:0.141:0.7082:0.0	.	542;718;496	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	P	718	ENSP00000296043:R718P	ENSP00000296043:R718P	R	+	2	0	SHROOM3	77880503	0.068000	0.21057	0.946000	0.38457	0.004000	0.04260	1.107000	0.31110	1.397000	0.46682	-0.260000	0.10688	CGG		0.677	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		C	77661479	G	C	77661479	3	2	352	1	0	0	0	0	1	0	0	0	14298	1116	39	3	2171	3	SHROOM3	4	77661479	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09		77661479	113492797	28	19169											
TBC1D9	23158	genome.wustl.edu	37	4	141600258	141600264	+	Frame_Shift_Del	DEL	TGCTCAC	TGCTCAC	-			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	TGCTCAC	TGCTCAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr4:141600258_141600264delTGCTCAC	ENST00000442267.2	-	5	757_763	c.683_689delGTGAGCA	c.(682-690)agtgagcatfs	p.SEH228fs		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	228							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGAGAAGAAATGCTCACTGGACCGTGT	0.478																																																0			4																																								141819714	SO:0001589	frameshift_variant	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.683_689delGTGAGCA	4.37:g.141600258_141600264delTGCTCAC	ENSP00000411197:p.Ser228fs		141819708	A6H8U8|D3DNZ1|O94958	Frame_Shift_Del	DEL	ENST00000442267.2	37	CCDS47136.1																																																																																				0.478	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		-	141600264	TGCTCAC	-	141600258	7	5	352	1	0	1	0	1	0	0	0	0	15627	1464	51	0	3179	0	TBC1D9	4	141600258	Frame_Shift_Del	DEL	TGCTCAC	TCGA-29-1781-01A-01W-0633-09	63938779	141600258	49554018	29	19170											
FNIP2	57600	genome.wustl.edu	37	4	159790382	159790382	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr4:159790382T>G	ENST00000264433.6	+	13	2669	c.2594T>G	c.(2593-2595)gTg>gGg	p.V865G	FNIP2_ENST00000379346.3_Missense_Mutation_p.V888G	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	865	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCTGGCCTCGTGGCTGGTGCG	0.592																																																0			4											33	37	36					4																	159790382		2027	4184	6211	160009832	SO:0001583	missense	0			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2594T>G	4.37:g.159790382T>G	ENSP00000264433:p.Val865Gly		160009832	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	T	8.005	0.756328	0.15846	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.23348	1.91;1.91	5.09	-6.09	0.02145	.	1.889870	0.02002	N	0.046398	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.18871	0.023	T	0.17289	-1.0374	9	.	.	.	.	5.2007	0.15262	0.1119:0.1282:0.1116:0.6482	.	865	Q9P278	FNIP2_HUMAN	G	865;888	ENSP00000264433:V865G;ENSP00000368651:V888G	.	V	+	2	0	FNIP2	160009832	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.731000	0.04862	-0.904000	0.02843	GTG		0.592	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		G	159790382	T	G	159790382	3	3	352	1	0	0	0	0	1	0	0	0	5976	1696	59	5	2644	5	FNIP2	4	159790382	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09	18190124	159790382	31363894	30	19171											
C4orf27	54969	genome.wustl.edu	37	4	170671822	170671822	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr4:170671822G>C	ENST00000393381.2	-	3	338	c.263C>G	c.(262-264)gCt>gGt	p.A88G		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	88						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATGTTTTCCAGCAAGGATATC	0.358																																																0			4											122	131	128					4																	170671822		2203	4300	6503	170908397	SO:0001583	missense	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.263C>G	4.37:g.170671822G>C	ENSP00000406598:p.Ala88Gly		170908397		Missense_Mutation	SNP	ENST00000393381.2	37	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302720	0.81136	.	.	ENSG00000056050	ENST00000393381	T	0.49139	0.79	5.1	5.1	0.69264	.	0.215085	0.47852	D	0.000206	T	0.67515	0.2901	M	0.80982	2.52	0.52501	D	0.99995	P	0.49358	0.923	P	0.57009	0.811	T	0.70550	-0.4841	10	0.49607	T	0.09	-16.4179	18.5748	0.91150	0.0:0.0:1.0:0.0	.	88	Q9NWY4	CD027_HUMAN	G	88	ENSP00000406598:A88G	ENSP00000406598:A88G	A	-	2	0	C4orf27	170908397	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	9.065000	0.93941	2.398000	0.81561	0.454000	0.30748	GCT		0.358	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		C	170671822	G	C	170671822	3	2	352	1	0	0	0	0	1	0	0	0	2258	971	34	3	801	3	C4orf27	4	170671822	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	10881440	170671822	20482454	31	19172											
CDH12	1010	genome.wustl.edu	37	5	21752143	21752143	+	Missense_Mutation	SNP	G	G	T	rs149905162		TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr5:21752143G>T	ENST00000382254.1	-	15	3174	c.2088C>A	c.(2086-2088)gaC>gaA	p.D696E	CDH12_ENST00000522262.1_Missense_Mutation_p.D656E|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D696E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	696					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AACAGAGAGAGTCTGGTTTTA	0.458										HNSCC(59;0.17)																																						0			5											219	189	199					5																	21752143		2203	4300	6503	21787900	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2088C>A	5.37:g.21752143G>T	ENSP00000371689:p.Asp696Glu		21787900	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	0.393	-0.922637	0.02396	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.75477	-0.94;-0.94;-0.94	5.12	3.17	0.36434	Cadherin, cytoplasmic domain (1);	0.246892	0.47852	N	0.000210	T	0.32556	0.0833	N	0.00277	-1.72	0.38585	D	0.950286	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.49322	-0.8952	10	0.02654	T	1	.	10.5257	0.44948	0.0:0.3832:0.4827:0.1341	.	656;696	B7Z2U6;P55289	.;CAD12_HUMAN	E	696;696;656	ENSP00000423577:D696E;ENSP00000371689:D696E;ENSP00000428786:D656E	ENSP00000371689:D696E	D	-	3	2	CDH12	21787900	.	.	0.996000	0.52242	0.967000	0.64934	.	.	1.133000	0.42147	0.467000	0.42956	GAC		0.458	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		T	21752143	G	T	21752143	3	4	352	1	0	0	0	0	1	0	0	0	3098	1020	36	3	300	3	CDH12	5	21752143	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09		21752143	159163117	32	19173											
LMBRD2	92255	genome.wustl.edu	37	5	36104193	36104193	+	Silent	SNP	T	T	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr5:36104193T>G	ENST00000296603.4	-	18	2505	c.2043A>C	c.(2041-2043)ggA>ggC	p.G681G		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	681						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAGATATCGTCCACCAGGCT	0.373																																																0			5											95	85	88					5																	36104193		2203	4300	6503	36139950	SO:0001819	synonymous_variant	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.2043A>C	5.37:g.36104193T>G			36139950	B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	37	CCDS34145.1																																																																																				0.373	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		G	36104193	T	G	36104193	2	3	352	1	0	0	0	0	0	0	0	1	8843	1654	58	5		5	LMBRD2	5	36104193	Silent	SNP	T	TCGA-29-1781-01A-01W-0633-09	14352050	36104193	144811067	33	19174											
APC	324	genome.wustl.edu	37	5	112179672	112179672	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr5:112179672G>T	ENST00000457016.1	+	16	8761	c.8381G>T	c.(8380-8382)aGc>aTc	p.S2794I	APC_ENST00000257430.4_Missense_Mutation_p.S2794I|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S2794I			P25054	APC_HUMAN	adenomatous polyposis coli	2794	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGGAAAAGCAGCGCAGATAGC	0.478		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)	5											88	92	91					5																	112179672		2202	4300	6502	112207571	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8381G>T	5.37:g.112179672G>T	ENSP00000413133:p.Ser2794Ile		112207571	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132308	0.56828	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.79033	-1.23;-1.23;-1.23	5.92	5.92	0.95590	EB-1 binding (1);	0.118062	0.85682	D	0.000000	T	0.78836	0.4346	L	0.29908	0.895	0.50467	D	0.999872	D;D	0.58268	0.982;0.968	P;P	0.58077	0.832;0.637	T	0.76244	-0.3030	9	.	.	.	-13.9484	15.7672	0.78135	0.0:0.1356:0.8644:0.0	.	2796;2794	Q4LE70;P25054	.;APC_HUMAN	I	2794	ENSP00000413133:S2794I;ENSP00000257430:S2794I;ENSP00000427089:S2794I	.	S	+	2	0	APC	112207571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.711000	0.74675	2.818000	0.97014	0.655000	0.94253	AGC		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		T	112179672	G	T	112179672	3	4	352	1	0	0	0	0	1	0	0	0	763	971	34	3	8439	3	APC	5	112179672	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	76075479	112179672	68735588	34	19175											
LRRTM2	26045	genome.wustl.edu	37	5	138209536	138209536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr5:138209536C>T	ENST00000274711.6	-	2	1092	c.714G>A	c.(712-714)tgG>tgA	p.W238*	CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000523537.1_5'Flank|CTNNA1_ENST00000518825.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	238					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGATTTTGTTCCATTGTAAGA	0.448																																																0			5											305	295	298					5																	138209536		1944	4146	6090	138237435	SO:0001587	stop_gained	26045			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.714G>A	5.37:g.138209536C>T	ENSP00000274711:p.Trp238*		138237435	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Nonsense_Mutation	SNP	ENST00000274711.6	37	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	C	37	6.031447	0.97221	.	.	ENSG00000146006	ENST00000274711	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.1486	0.93479	0.0:1.0:0.0:0.0	.	.	.	.	X	238	.	ENSP00000274711:W238X	W	-	3	0	LRRTM2	138237435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.814000	0.62627	2.861000	0.98227	0.650000	0.86243	TGG		0.448	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			T	138209536	C	T	138209536	4	4	352	1	0	0	0	0	0	1	0	0	9040	856	30	2	840	2	LRRTM2	5	138209536	Nonsense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	26029864	138209536	42705724	35	19176											
KIAA0141	9812	genome.wustl.edu	37	5	141318134	141318134	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr5:141318134G>A	ENST00000432126.2	+	12	1492	c.1358G>A	c.(1357-1359)aGc>aAc	p.S453N	KIAA0141_ENST00000194118.4_Missense_Mutation_p.S453N	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	453					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCTCCAGCCCCTCCCTC	0.562																																																0			5											109	108	108					5																	141318134		2203	4300	6503	141298318	SO:0001583	missense	9812			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1358G>A	5.37:g.141318134G>A	ENSP00000396225:p.Ser453Asn		141298318	Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	CCDS4268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.326130|4.326130	0.81580|0.81580	.|.	.|.	ENSG00000081791|ENSG00000081791	ENST00000507481|ENST00000432126;ENST00000194118	.|T;T	.|0.12879	.|2.64;2.64	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.196730	.|0.43416	.|D	.|0.000574	T|T	0.33990|0.33990	0.0882|0.0882	M|M	0.65975|0.65975	2.015|2.015	0.31833|0.31833	N|N	0.624444|0.624444	.|D	.|0.71674	.|0.998	.|D	.|0.78314	.|0.991	T|T	0.22730|0.22730	-1.0208|-1.0208	5|10	.|0.40728	.|T	.|0.16	-24.2241|-24.2241	13.9073|13.9073	0.63843|0.63843	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|453	.|Q14154	.|DELE_HUMAN	T|N	155|453	.|ENSP00000396225:S453N;ENSP00000194118:S453N	.|ENSP00000194118:S453N	A|S	+|+	1|2	0|0	KIAA0141|KIAA0141	141298318|141298318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.235000|4.235000	0.58666|0.58666	2.665000|2.665000	0.90641|0.90641	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.562	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		A	141318134	G	A	141318134	3	1	352	1	0	0	0	0	1	0	0	0	8156	971	34	2	1404	2	KIAA0141	5	141318134	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	3108598	141318134	39597126	36	19177											
ITPR3	3710	genome.wustl.edu	37	6	33632726	33632726	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr6:33632726G>A	ENST00000374316.5	+	13	2288	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E410K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	410	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CATCGAGGAGGAGCGGCCCAT	0.662																																																0			6											60	56	57					6																	33632726		2203	4300	6503	33740704	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1228G>A	6.37:g.33632726G>A	ENSP00000363435:p.Glu410Lys		33740704	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901883	0.72754	.	.	ENSG00000096433	ENST00000374316	D	0.89746	-2.56	4.97	4.97	0.65823	MIR motif (1);MIR (2);	0.117370	0.64402	D	0.000020	D	0.92990	0.7769	M	0.83953	2.67	0.58432	D	0.999995	D	0.57899	0.981	D	0.64237	0.923	D	0.91633	0.5320	10	0.30854	T	0.27	-17.6412	17.8168	0.88637	0.0:0.0:1.0:0.0	.	410	Q14573	ITPR3_HUMAN	K	410	ENSP00000363435:E410K	ENSP00000363435:E410K	E	+	1	0	ITPR3	33740704	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	7.755000	0.85180	2.303000	0.77524	0.460000	0.39030	GAG		0.662	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33632726	G	A	33632726	3	1	352	1	0	0	0	0	1	0	0	0	7922	1175	41	2	1274	2	ITPR3	6	33632726	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09		33632726	137482341	37	19178											
LRRC1	55227	genome.wustl.edu	37	6	53787505	53787505	+	Missense_Mutation	SNP	C	C	T	rs538702416		TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr6:53787505C>T	ENST00000370888.1	+	14	1766	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	497						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GGAGAATTTACGGAATGACAT	0.443																																																0			6											231	231	231					6																	53787505		1940	4151	6091	53895464	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1489C>T	6.37:g.53787505C>T	ENSP00000359925:p.Arg497Trp		53895464	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756706	0.89843	.	.	ENSG00000137269	ENST00000370888	T	0.55930	0.49	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.66416	-0.5929	10	0.54805	T	0.06	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	497	Q9BTT6	LRRC1_HUMAN	W	497	ENSP00000359925:R497W	ENSP00000359925:R497W	R	+	1	2	LRRC1	53895464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.593000	0.61034	2.808000	0.96608	0.655000	0.94253	CGG		0.443	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		T	53787505	C	T	53787505	3	4	352	1	0	0	0	0	1	0	0	0	8966	527	19	1	1543	1	LRRC1	6	53787505	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	20154779	53787505	117327562	38	19179											
MDN1	23195	genome.wustl.edu	37	6	90463320	90463320	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr6:90463320T>C	ENST00000369393.3	-	22	3101	c.2986A>G	c.(2986-2988)Aca>Gca	p.T996A	MDN1_ENST00000428876.1_Missense_Mutation_p.T996A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	996					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCAAGCTGTGTTAAGAAACCC	0.378																																																0			6											112	110	111					6																	90463320		2203	4300	6503	90520041	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2986A>G	6.37:g.90463320T>C	ENSP00000358400:p.Thr996Ala		90520041	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615985	0.66672	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.21361	3.35;3.35;2.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.90369	3.11	0.58432	D	0.999999	D;D	0.65815	0.995;0.995	D;D	0.74023	0.925;0.982	T	0.56390	-0.7987	10	0.59425	D	0.04	.	14.9194	0.70826	0.0:0.0:0.0:1.0	.	923;996	Q5T795;Q9NU22	.;MDN1_HUMAN	A	996;996;923	ENSP00000358400:T996A;ENSP00000413970:T996A;ENSP00000409664:T923A	ENSP00000358400:T996A	T	-	1	0	MDN1	90520041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.106000	0.77039	2.254000	0.74563	0.533000	0.62120	ACA		0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90463320	T	C	90463320	3	2	352	1	0	0	0	0	1	0	0	0	9415	1725	60	4	14128	4	MDN1	6	90463320	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09	36675815	90463320	80651747	39	19180											
RFX6	222546	genome.wustl.edu	37	6	117237423	117237423	+	Silent	SNP	C	C	T	rs138602597	byFrequency	TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr6:117237423C>T	ENST00000332958.2	+	9	934	c.918C>T	c.(916-918)ctC>ctT	p.L306L	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	306					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCCCCTGCTCGAAAATCCTG	0.338																																																0			6						C		0,4406		0,0,2203	157	153	154		918	0.1	1	6	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RFX6	NM_173560.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		306/929	117237423	1,13005	2203	4300	6503	117344116	SO:0001819	synonymous_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.918C>T	6.37:g.117237423C>T			117344116	Q5T6B3	Silent	SNP	ENST00000332958.2	37	CCDS5113.1																																																																																				0.338	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		T	117237423	C	T	117237423	2	4	352	1	0	0	0	0	0	0	0	1	13270	871	31	1		1	RFX6	6	117237423	Silent	SNP	C	TCGA-29-1781-01A-01W-0633-09	26774103	117237423	53877644	40	19181											
CDK13	8621	genome.wustl.edu	37	7	40102476	40102476	+	Silent	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr7:40102476G>T	ENST00000181839.4	+	8	3257	c.2652G>T	c.(2650-2652)ctG>ctT	p.L884L	CDK13_ENST00000340829.5_Silent_p.L884L|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	884	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CACCTGAACTGCTACTGGGAG	0.388																																																0			7											300	308	305					7																	40102476		2203	4300	6503	40069001	SO:0001819	synonymous_variant	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2652G>T	7.37:g.40102476G>T			40069001	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	CCDS5461.1																																																																																				0.388	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		T	40102476	G	T	40102476	2	4	352	1	0	0	0	0	0	0	0	1	3129	1306	46	3		3	CDK13	7	40102476	Silent	SNP	G	TCGA-29-1781-01A-01W-0633-09		40102476	119036187	41	19182											
C7orf45	136263	genome.wustl.edu	37	7	129855967	129855967	+	Missense_Mutation	SNP	G	G	A	rs191908225		TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr7:129855967G>A	ENST00000297819.3	+	3	443	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	131						integral component of membrane (GO:0016021)											CGAGCCAGGCGCCAGTCTCAG	0.478													G|||	1	0.000199681	0	0	5008	,	,		21108	0.001		0	False		,,,				2504	0															0			7						G	HIS/ARG	0,4406		0,0,2203	99	94	96		392	-7.6	0	7		96	2,8598	2.2+/-6.3	0,2,4298	no	missense	C7orf45	NM_145268.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	131/245	129855967	2,13004	2203	4300	6503	129643203	SO:0001583	missense	136263			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.392G>A	7.37:g.129855967G>A	ENSP00000297819:p.Arg131His		129643203		Missense_Mutation	SNP	ENST00000297819.3	37	CCDS5816.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.556	0.103219	0.08731	0.0	2.33E-4	ENSG00000165120	ENST00000297819	T	0.47869	0.83	5.84	-7.55	0.01327	.	1.183490	0.05924	N	0.634016	T	0.35740	0.0942	L	0.51422	1.61	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.42649	-0.9439	10	0.56958	D	0.05	0.4352	6.7583	0.23526	0.333:0.0:0.1347:0.5323	.	131	Q8WWF3	CG045_HUMAN	H	131	ENSP00000297819:R131H	ENSP00000297819:R131H	R	+	2	0	C7orf45	129643203	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.153000	0.10144	-1.162000	0.02797	-0.229000	0.12294	CGC		0.478	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		A	129855967	G	A	129855967	3	1	352	1	0	0	0	0	1	0	0	0	2395	1087	38	1	402	1	C7orf45	7	129855967	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	89753491	129855967	29282696	42	19183											
PLXNA4	91584	genome.wustl.edu	37	7	131870124	131870124	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr7:131870124T>A	ENST00000359827.3	-	16	4054	c.3092A>T	c.(3091-3093)gAc>gTc	p.D1031V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1031V			Q9HCM2	PLXA4_HUMAN	plexin A4	1031	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAAGACCAGGTCCTGGTGGAT	0.542																																																0			7											127	132	130					7																	131870124		2067	4194	6261	131520664	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3092A>T	7.37:g.131870124T>A	ENSP00000352882:p.Asp1031Val		131520664	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.581066	0.65992	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76839	-1.05;-1.05	5.6	5.6	0.85130	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.986320	0.01665	N	0.025320	T	0.80914	0.4715	M	0.66297	2.02	0.80722	D	1	B	0.26318	0.146	B	0.25506	0.061	T	0.52859	-0.8519	10	0.28530	T	0.3	.	15.7766	0.78224	0.0:0.0:0.0:1.0	.	1031	Q9HCM2	PLXA4_HUMAN	V	1031	ENSP00000323194:D1031V;ENSP00000352882:D1031V	ENSP00000323194:D1031V	D	-	2	0	PLXNA4	131520664	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.062000	0.71155	2.143000	0.66587	0.459000	0.35465	GAC		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131870124	T	A	131870124	3	1	352	1	0	0	0	0	1	0	0	0	12122	1667	58	5	2660	5	PLXNA4	7	131870124	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09	2014157	131870124	27268539	43	19184											
NCAPG2	54892	genome.wustl.edu	37	7	158472735	158472735	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr7:158472735C>T	ENST00000409423.1	-	12	1235	c.1063G>A	c.(1063-1065)Gtt>Att	p.V355I	NCAPG2_ENST00000356309.3_Missense_Mutation_p.V355I|NCAPG2_ENST00000449727.2_Missense_Mutation_p.V355I|NCAPG2_ENST00000409339.3_Missense_Mutation_p.V355I|NCAPG2_ENST00000275830.10_Missense_Mutation_p.V147I	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	355					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AATGCTTCAACAAACAACAAT	0.373																																																0			7											143	131	135					7																	158472735		1858	4110	5968	158165496	SO:0001583	missense	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1063G>A	7.37:g.158472735C>T	ENSP00000386569:p.Val355Ile		158165496	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731234	0.30684	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	6.06	2.91	0.33838	Armadillo-like helical (1);Armadillo-type fold (1);	0.307319	0.36167	N	0.002751	T	0.23410	0.0566	N	0.16602	0.42	0.23309	N	0.997935	B;B;B	0.17465	0.018;0.014;0.022	B;B;B	0.17979	0.019;0.017;0.02	T	0.22138	-1.0225	10	0.13108	T	0.6	-17.9022	9.8635	0.41129	0.0:0.6138:0.0:0.3862	.	355;147;355	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	I	355;355;147;355;355	ENSP00000348657:V355I;ENSP00000386569:V355I;ENSP00000275830:V147I;ENSP00000387007:V355I;ENSP00000388326:V355I	ENSP00000275830:V147I	V	-	1	0	NCAPG2	158165496	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	1.521000	0.35910	0.277000	0.22141	0.655000	0.94253	GTT		0.373	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		T	158472735	C	T	158472735	3	4	352	1	0	0	0	0	1	0	0	0	10208	478	17	2	2440	2	NCAPG2	7	158472735	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	26602611	158472735	665928	44	19185											
CYP7A1	1581	genome.wustl.edu	37	8	59404924	59404924	+	Silent	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr8:59404924G>A	ENST00000301645.3	-	5	1340	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	401					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAGGGTCTGGGTAGATTTCTG	0.393									Neonatal Giant Cell Hepatitis																																							0			8											159	141	147					8																	59404924		2203	4300	6503	59567478	SO:0001819	synonymous_variant	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1203C>T	8.37:g.59404924G>A			59567478	P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	CCDS6171.1																																																																																				0.393	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		A	59404924	G	A	59404924	2	1	352	1	0	0	0	0	0	0	0	1	4196	1256	44	2		2	CYP7A1	8	59404924	Silent	SNP	G	TCGA-29-1781-01A-01W-0633-09		59404924	86959098	45	19186											
CSMD3	114788	genome.wustl.edu	37	8	113308095	113308095	+	Missense_Mutation	SNP	G	G	T	rs139266832		TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr8:113308095G>T	ENST00000297405.5	-	54	8825	c.8581C>A	c.(8581-8583)Cac>Aac	p.H2861N	CSMD3_ENST00000455883.2_Missense_Mutation_p.H2692N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2821N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2791N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2861	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACCAATTGTGATCCTGTTGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											123	103	110					8																	113308095		2203	4300	6503	113377271	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8581C>A	8.37:g.113308095G>T	ENSP00000297405:p.His2861Asn		113377271	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748076	0.49257	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.067418	0.64402	D	0.000018	T	0.58250	0.2109	L	0.28740	0.885	0.48975	D	0.999739	B;B;P	0.46859	0.008;0.005;0.885	B;B;P	0.44946	0.027;0.029;0.465	T	0.62110	-0.6923	10	0.52906	T	0.07	.	18.9718	0.92718	0.0:0.0:1.0:0.0	.	2692;2861;2821	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	2821;2861;2131;2692;2791	ENSP00000345799:H2821N;ENSP00000297405:H2861N;ENSP00000341558:H2131N;ENSP00000412263:H2692N;ENSP00000343124:H2791N	ENSP00000297405:H2861N	H	-	1	0	CSMD3	113377271	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.378000	0.73150	2.480000	0.83734	0.655000	0.94253	CAC		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113308095	G	T	113308095	3	4	352	1	0	0	0	0	1	0	0	0	3946	1290	45	3	2614	3	CSMD3	8	113308095	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	53903171	113308095	33055927	46	19187											
SMARCA2	6595	genome.wustl.edu	37	9	2076321	2076321	+	Silent	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr9:2076321G>A	ENST00000382203.1	+	13	2237	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q	SMARCA2_ENST00000382194.1_Silent_p.Q676Q|SMARCA2_ENST00000349721.2_Silent_p.Q676Q|SMARCA2_ENST00000357248.2_Silent_p.Q676Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	676					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATGCTAAGCAGATCATTGAGT	0.393																																																0			9											130	132	131					9																	2076321		2203	4300	6503	2066321	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2028G>A	9.37:g.2076321G>A			2066321	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.393	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2076321	G	A	2076321	2	1	352	1	0	0	0	0	0	0	0	1	14772	933	33	2		2	SMARCA2	9	2076321	Silent	SNP	G	TCGA-29-1781-01A-01W-0633-09		2076321	139137110	47	19188											
RRAGA	54801	genome.wustl.edu	37	9	19050426	19050426	+	IGR	SNP	T	T	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr9:19050426T>A	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.S257T	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTTAGGAATTCCAACTTCGC	0.488																																																0			9											120	105	110					9																	19050426		2203	4300	6503	19040426	SO:0001628	intergenic_variant	10670			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050426T>A			19040426	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233453	0.39498	.	.	ENSG00000155876	ENST00000380527	T	0.65364	-0.15	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.59967	1.855	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.53322	-0.8455	10	0.25751	T	0.34	-26.4788	12.9658	0.58483	0.0:0.0:0.0:1.0	.	257	Q7L523	RRAGA_HUMAN	T	257	ENSP00000369899:S257T	ENSP00000369899:S257T	S	+	1	0	RRAGA	19040426	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.306000	0.78905	2.236000	0.73375	0.533000	0.62120	TCC		0.488	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		A	19050426	T	A	19050426	1	1	352	0	1	0	0	0	0	0	0	0	13675	1783	62	5		5	RRAGA	9	19050426	IGR	SNP	T	TCGA-29-1781-01A-01W-0633-09	16974105	19050426	122163005	48	19189											
DDX58	23586	genome.wustl.edu	37	9	32493809	32493809	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr9:32493809A>G	ENST00000379883.2	-	3	530	c.373T>C	c.(373-375)Tct>Cct	p.S125P	DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000542096.1_Missense_Mutation_p.S54P|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000379882.1_Missense_Mutation_p.S80P	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	125	CARD 2.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GACAGATCAGAAATGATATCG	0.284																																																0			9											54	59	58					9																	32493809		2200	4293	6493	32483809	SO:0001583	missense	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.373T>C	9.37:g.32493809A>G	ENSP00000369213:p.Ser125Pro		32483809	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.135652	0.00335	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000542096;ENST00000542960	T;T;T	0.37411	1.2;1.2;1.2	4.33	0.697	0.18081	.	0.613938	0.15067	N	0.282450	T	0.12689	0.0308	N	0.03948	-0.315	0.54753	D	0.999981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.12041	-1.0563	10	0.18710	T	0.47	-2.2755	4.1575	0.10268	0.3383:0.0:0.5064:0.1553	.	80;54;125	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	P	80;125;54;125	ENSP00000369212:S80P;ENSP00000369213:S125P;ENSP00000442160:S54P	ENSP00000369212:S80P	S	-	1	0	DDX58	32483809	0.999000	0.42202	0.676000	0.29932	0.105000	0.19272	1.120000	0.31271	0.175000	0.19841	-0.973000	0.02599	TCT		0.284	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		G	32493809	A	G	32493809	3	3	352	1	0	0	0	0	1	0	0	0	4375	246	9	4	2468	4	DDX58	9	32493809	Missense_Mutation	SNP	A	TCGA-29-1781-01A-01W-0633-09	13443383	32493809	108719622	49	19190											
PTCH1	5727	genome.wustl.edu	37	9	98209217	98209217	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr9:98209217G>A	ENST00000331920.6	-	23	4620	c.4321C>T	c.(4321-4323)Ccc>Tcc	p.P1441S	PTCH1_ENST00000437951.1_Missense_Mutation_p.P1375S|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1290S|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1290S|PTCH1_ENST00000430669.2_Missense_Mutation_p.P1375S|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1290S|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1440S	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1441					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTCCCCGGGGCCTCTCCTCG	0.602																																																0			9											89	91	90					9																	98209217		2203	4300	6503	97249038	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4321C>T	9.37:g.98209217G>A	ENSP00000332353:p.Pro1441Ser		97249038	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039586	0.35989	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.89485	-2.5;-2.5;-2.48;-2.48;-2.5;-2.48;-2.52	5.06	0.565	0.17309	.	0.563069	0.20504	N	0.091021	T	0.72087	0.3417	N	0.14661	0.345	0.29734	N	0.837668	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.56685	-0.7938	10	0.12103	T	0.63	-5.1261	3.6175	0.08083	0.0872:0.1096:0.3106:0.4925	.	1375;1440;1441	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	S	1441;1375;1290;1290;1375;1290;1440	ENSP00000332353:P1441S;ENSP00000389744:P1375S;ENSP00000399981:P1290S;ENSP00000396135:P1290S;ENSP00000410287:P1375S;ENSP00000414823:P1290S;ENSP00000364423:P1440S	ENSP00000332353:P1441S	P	-	1	0	PTCH1	97249038	1.000000	0.71417	0.542000	0.28115	0.908000	0.53690	1.659000	0.37387	0.265000	0.21872	-0.140000	0.14226	CCC		0.602	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		A	98209217	G	A	98209217	3	1	352	1	0	0	0	0	1	0	0	0	12733	1203	42	2	26	2	PTCH1	9	98209217	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	65715408	98209217	43004214	50	19191											
NUP214	8021	genome.wustl.edu	37	9	134003075	134003075	+	Silent	SNP	A	A	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr9:134003075A>G	ENST00000359428.5	+	2	354	c.210A>G	c.(208-210)caA>caG	p.Q70Q	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000451030.1_Silent_p.Q70Q|NUP214_ENST00000411637.2_Silent_p.Q70Q			P35658	NU214_HUMAN	nucleoporin 214kDa	70	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTCTTATTCAAAATAAACCCG	0.443			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0			9											65	73	70					9																	134003075		2202	4299	6501	132992896	SO:0001819	synonymous_variant	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.210A>G	9.37:g.134003075A>G			132992896	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	CCDS6940.1																																																																																				0.443	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		G	134003075	A	G	134003075	2	3	352	1	0	0	0	0	0	0	0	1	10762	11	1	4		4	NUP214	9	134003075	Silent	SNP	A	TCGA-29-1781-01A-01W-0633-09	35793858	134003075	7210356	51	19192											
PRLHR	2834	genome.wustl.edu	37	10	120354612	120354612	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr10:120354612G>T	ENST00000369169.1	-	1	144	c.145C>A	c.(145-147)Ccc>Acc	p.P49T	PRLHR_ENST00000239032.2_Missense_Mutation_p.P49T			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	49					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CTCTGGAAGGGCGTGACGGCT	0.692																																																0			10											36	42	40					10																	120354612		2203	4299	6502	120344602	SO:0001583	missense	2834			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.145C>A	10.37:g.120354612G>T	ENSP00000358167:p.Pro49Thr		120344602	O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	G	2.449	-0.326737	0.05350	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.62498	0.02;0.02	4.08	3.16	0.36331	.	0.318216	0.29152	N	0.012986	T	0.31734	0.0806	N	0.08118	0	0.24954	N	0.991773	B	0.27498	0.18	B	0.21917	0.037	T	0.17592	-1.0364	10	0.08599	T	0.76	.	5.8006	0.18412	0.1034:0.2:0.6965:0.0	.	49	P49683	PRLHR_HUMAN	T	49	ENSP00000239032:P49T;ENSP00000358167:P49T	ENSP00000239032:P49T	P	-	1	0	PRLHR	120344602	1.000000	0.71417	0.956000	0.39512	0.612000	0.37316	4.720000	0.61944	1.295000	0.44724	-0.182000	0.12963	CCC		0.692	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		T	120354612	G	T	120354612	3	4	352	1	0	0	0	0	1	0	0	0	12533	1203	42	3	971	3	PRLHR	10	120354612	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09		120354612	15180135	52	19193											
ART1	417	genome.wustl.edu	37	11	3680838	3680838	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr11:3680838G>A	ENST00000250693.1	+	3	190	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	ART1_ENST00000529556.1_3'UTR	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	30					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		ATCACACGACGAGACCTCTTC	0.607																																																0			11											54	54	54					11																	3680838		2201	4298	6499	3637414	SO:0001583	missense	417			S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.89G>A	11.37:g.3680838G>A	ENSP00000250693:p.Arg30Gln		3637414	Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633244	0.47049	.	.	ENSG00000129744	ENST00000250693	T	0.08458	3.09	5.53	1.36	0.22044	.	0.456848	0.17733	N	0.163824	T	0.05318	0.0141	L	0.34521	1.04	0.09310	N	1	D	0.60160	0.987	B	0.42087	0.375	T	0.35425	-0.9789	10	0.13108	T	0.6	.	6.2419	0.20795	0.1272:0.0:0.5816:0.2912	.	30	P52961	NAR1_HUMAN	Q	30	ENSP00000250693:R30Q	ENSP00000250693:R30Q	R	+	2	0	ART1	3637414	0.446000	0.25665	0.562000	0.28370	0.860000	0.49131	1.139000	0.31504	0.628000	0.30357	0.467000	0.42956	CGA		0.607	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		A	3680838	G	A	3680838	3	1	352	1	0	0	0	0	1	0	0	0	997	1058	37	1	95	1	ART1	11	3680838	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09		3680838	131325678	53	19194											
ARNTL	406	genome.wustl.edu	37	11	13407320	13407320	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr11:13407320G>C	ENST00000403290.1	+	19	2057	c.1702G>C	c.(1702-1704)Gat>Cat	p.D568H	ARNTL_ENST00000403482.3_Missense_Mutation_p.D566H|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000361003.4_Missense_Mutation_p.D450H|ARNTL_ENST00000389707.4_Missense_Mutation_p.D567H|ARNTL_ENST00000401424.1_Missense_Mutation_p.D525H|ARNTL_ENST00000403510.3_Missense_Mutation_p.D524H|ARNTL_ENST00000396441.3_Missense_Mutation_p.D567H			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	568	Interaction with CIART. {ECO:0000250|UniProtKB:Q9WTL8}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCCATATTCTGATAGTTCTTC	0.398																																																0			11											150	133	139					11																	13407320		2200	4294	6494	13363896	SO:0001583	missense	406			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1702G>C	11.37:g.13407320G>C	ENSP00000384517:p.Asp568His		13363896	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	G	14.10	2.435696	0.43224	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T	0.11385	3.13;3.13;3.13;3.13;2.78;3.13;3.12	5.13	5.13	0.70059	.	0.496393	0.19779	N	0.106280	T	0.17492	0.0420	L	0.29908	0.895	0.80722	D	1	B;P;P;P;B	0.46512	0.018;0.603;0.664;0.879;0.396	B;B;B;P;B	0.51385	0.015;0.366;0.388;0.668;0.125	T	0.00888	-1.1526	10	0.62326	D	0.03	.	18.3479	0.90328	0.0:0.0:1.0:0.0	.	566;525;568;567;524	O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;BMAL1_HUMAN;.;.	H	567;567;525;568;450;524;524;566	ENSP00000379718:D567H;ENSP00000374357:D567H;ENSP00000385915:D525H;ENSP00000384517:D568H;ENSP00000354278:D450H;ENSP00000385581:D524H;ENSP00000385897:D566H	ENSP00000340289:D524H	D	+	1	0	ARNTL	13363896	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.638000	0.67861	2.662000	0.90505	0.491000	0.48974	GAT		0.398	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		C	13407320	G	C	13407320	3	2	352	1	0	0	0	0	1	0	0	0	967	1290	45	3	1772	3	ARNTL	11	13407320	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	9726482	13407320	121599196	54	19195											
INSC	387755	genome.wustl.edu	37	11	15222481	15222481	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr11:15222481C>A	ENST00000379554.3	+	7	992	c.946C>A	c.(946-948)Cac>Aac	p.H316N	INSC_ENST00000379556.3_Missense_Mutation_p.H269N|INSC_ENST00000447214.2_Intron|INSC_ENST00000424273.1_Intron|INSC_ENST00000530161.1_Missense_Mutation_p.H269N|INSC_ENST00000525218.1_Intron|INSC_ENST00000528567.1_Missense_Mutation_p.H269N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	316					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGAGGGTGTCCACCAGCTGGA	0.612																																																0			11											34	35	34					11																	15222481		2102	4220	6322	15179057	SO:0001583	missense	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.946C>A	11.37:g.15222481C>A	ENSP00000368872:p.His316Asn		15179057	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	C	8.874	0.949903	0.18431	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000416761;ENST00000528567;ENST00000530161	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.434755	0.26812	N	0.022380	T	0.37320	0.0999	L	0.40543	1.245	0.80722	D	1	B;B;B	0.16396	0.017;0.001;0.013	B;B;B	0.15052	0.012;0.001;0.008	T	0.20505	-1.0273	10	0.40728	T	0.16	-18.0896	9.5019	0.39022	0.0:0.9036:0.0:0.0964	.	304;269;316	Q1MX18-5;A0PJX5;Q1MX18	.;.;INSC_HUMAN	N	316;269;304;269;269	ENSP00000368872:H316N;ENSP00000368874:H269N;ENSP00000435022:H269N;ENSP00000436194:H269N	ENSP00000368872:H316N	H	+	1	0	INSC	15179057	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.880000	0.39628	2.342000	0.79632	0.462000	0.41574	CAC		0.612	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		A	15222481	C	A	15222481	3	1	352	1	0	0	0	0	1	0	0	0	7764	594	21	3	972	3	INSC	11	15222481	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	1815161	15222481	119784035	55	19196											
EMG1	10162	genome.wustl.edu	37	12	7084446	7084448	+	IGR	DEL	CTT	CTT	-			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	CTT	CTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr12:7084446_7084448delCTT	ENST00000261407.4	-	0	2268				LPCAT3_ENST00000535021.1_5'Flank|EMG1_ENST00000261406.6_In_Frame_Del_p.S176del|EMG1_ENST00000546220.1_3'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAAGTTGGCACTTCTTTTTCCAT	0.453																																																0			12																																								6954709	SO:0001628	intergenic_variant	10436			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7084449_7084451delCTT			6954707	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	In_Frame_Del	DEL	ENST00000261407.4	37	CCDS8572.1																																																																																				0.453	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		-	7084448	CTT	-	7084446	6	5	352	0	1	1	0	1	0	0	0	0	5090	565	20	0		0	EMG1	12	7084446	IGR	DEL	CTT	TCGA-29-1781-01A-01W-0633-09		7084446	126767449	56	19197											
RECQL	5965	genome.wustl.edu	37	12	21643149	21643149	+	Silent	SNP	T	T	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr12:21643149T>G	ENST00000444129.2	-	4	846	c.378A>C	c.(376-378)ccA>ccC	p.P126P	RECQL_ENST00000421138.2_Silent_p.P126P	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	126	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AACATAATGCTGGTAACTGGT	0.318								Other identified genes with known or suspected DNA repair function																																								0			12											103	99	100					12																	21643149		2203	4300	6503	21534416	SO:0001819	synonymous_variant	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.378A>C	12.37:g.21643149T>G			21534416	A8K6G2	Silent	SNP	ENST00000444129.2	37	CCDS31756.1																																																																																				0.318	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		G	21643149	T	G	21643149	2	3	352	1	0	0	0	0	0	0	0	1	13204	1567	55	5		5	RECQL	12	21643149	Silent	SNP	T	TCGA-29-1781-01A-01W-0633-09	14558703	21643149	112208746	57	19198											
IL26	55801	genome.wustl.edu	37	12	68619490	68619490	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr12:68619490A>C	ENST00000229134.4	-	1	111	c.47T>G	c.(46-48)cTg>cGg	p.L16R	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	16					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GGCAAGAGACAGAGTGACTAA	0.468																																																0			12											274	236	249					12																	68619490		2203	4300	6503	66905757	SO:0001583	missense	55801			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.47T>G	12.37:g.68619490A>C	ENSP00000229134:p.Leu16Arg		66905757		Missense_Mutation	SNP	ENST00000229134.4	37	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482766	0.44147	.	.	ENSG00000111536	ENST00000229134	T	0.62941	-0.01	4.54	3.33	0.38152	Four-helical cytokine, core (1);	0.000000	0.39407	N	0.001380	T	0.68879	0.3049	L	0.56769	1.78	0.09310	N	1	D	0.55800	0.973	P	0.60541	0.876	T	0.58685	-0.7593	9	.	.	.	.	8.4373	0.32795	0.8255:0.0:0.0:0.1745	.	16	Q9NPH9	IL26_HUMAN	R	16	ENSP00000229134:L16R	.	L	-	2	0	IL26	66905757	0.993000	0.37304	0.261000	0.24466	0.725000	0.41563	3.220000	0.51207	0.782000	0.33613	0.379000	0.24179	CTG		0.468	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		C	68619490	A	C	68619490	3	2	352	1	0	0	0	0	1	0	0	0	7679	188	7	5	488	5	IL26	12	68619490	Missense_Mutation	SNP	A	TCGA-29-1781-01A-01W-0633-09	46976341	68619490	65232405	58	19199											
SDS	10993	genome.wustl.edu	37	12	113830787	113830817	+	Frame_Shift_Del	DEL	GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT	GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT	-	rs201627146|rs371260220		TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT	GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr12:113830787_113830817delGCGCCCGCAGCTGGGCCAGGCTGATGTTGCT	ENST00000257549.4	-	8	1038_1068	c.916_946delAGCAACATCAGCCTGGCCCAGCTGCGGGCGC	c.(916-948)agcaacatcagcctggcccagctgcgggcgctcfs	p.SNISLAQLRAL306fs		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	306					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.R314P(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	TGTTCCTTGAGCGCCCGCAGCTGGGCCAGGCTGATGTTGCTGCCCCCGCAG	0.623																																																1	Substitution - Missense(1)	lung(1)	12																																								112315200	SO:0001589	frameshift_variant	10993			J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"L-serine ammonia-lyase"	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.916_946delAGCAACATCAGCCTGGCCCAGCTGCGGGCGC	12.37:g.113830787_113830817delGCGCCCGCAGCTGGGCCAGGCTGATGTTGCT	ENSP00000257549:p.Ser306fs		112315170	A8K9P5	Frame_Shift_Del	DEL	ENST00000257549.4	37	CCDS9169.1																																																																																				0.623	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		-	113830817	GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT	-	113830787	7	5	352	1	0	1	0	1	0	0	0	0	13978	971	34	0	44	0	SDS	12	113830787	Frame_Shift_Del	DEL	GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT	TCGA-29-1781-01A-01W-0633-09	45211297	113830787	20021108	59	19200											
SAP18	10284	genome.wustl.edu	37	13	21715102	21715102	+	Silent	SNP	T	T	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr13:21715102T>C	ENST00000607003.1	+	2	182	c.150T>C	c.(148-150)aaT>aaC	p.N50N	SNORD27_ENST00000516319.1_RNA|SAP18_ENST00000382533.4_Silent_p.N69N|RN7SL80P_ENST00000580631.1_RNA|SAP18_ENST00000485646.1_3'UTR			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	50					mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCCGGGGAAATGTACCGTCCA	0.587																																																0			13											102	99	100					13																	21715102		2203	4300	6503	20613102	SO:0001819	synonymous_variant	10284			U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"sin3A-associated protein, 18kDa"			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.150T>C	13.37:g.21715102T>C			20613102	B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Silent	SNP	ENST00000607003.1	37		.	.	.	.	.	.	.	.	.	.	T	15.87	2.961601	0.53400	.	.	ENSG00000150459	ENST00000450573	.	.	.	4.67	3.78	0.43462	.	.	.	.	.	T	0.60117	0.2244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56968	-0.7891	4	.	.	.	-24.2742	10.3442	0.43897	0.0:0.8369:0.0:0.1631	.	.	.	.	R	64	.	.	C	+	1	0	SAP18	20613102	0.999000	0.42202	1.000000	0.80357	0.787000	0.44495	0.677000	0.25262	1.083000	0.41159	-0.608000	0.04076	TGT		0.587	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		C	21715102	T	C	21715102	2	2	352	1	0	0	0	0	0	0	0	1	13835	1461	51	4		4	SAP18	13	21715102	Silent	SNP	T	TCGA-29-1781-01A-01W-0633-09		21715102	93454776	60	19201											
APEX1	328	genome.wustl.edu	37	14	20925577	20925578	+	Frame_Shift_Del	DEL	CT	CT	-	rs565835054		TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	CT	CT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr14:20925577_20925578delCT	ENST00000216714.3	+	5	1135_1136	c.867_868delCT	c.(865-870)cactctfs	p.S290fs	APEX1_ENST00000555414.1_Frame_Shift_Del_p.S290fs|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000398030.4_Frame_Shift_Del_p.S290fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	290	Mitochondrial targeting sequence (MTS).				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGTTGTCCCACTCTCTGTTACC	0.485								Other BER factors																																								0			14																																								19995418	SO:0001589	frameshift_variant	328			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.867_868delCT	14.37:g.20925581_20925582delCT	ENSP00000216714:p.Ser290fs		19995417	Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	CCDS9550.1																																																																																				0.485	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		-	20925578	CT	-	20925577	7	5	352	1	0	1	0	1	0	0	0	0	769	564	20	0	881	0	APEX1	14	20925577	Frame_Shift_Del	DEL	CT	TCGA-29-1781-01A-01W-0633-09		20925577	86423963	61	19202											
ERO1L	30001	genome.wustl.edu	37	14	53119889	53119889	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr14:53119889A>G	ENST00000395686.3	-	12	1176	c.953T>C	c.(952-954)gTg>gCg	p.V318A		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	318					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GAATGGTAACACTTTGGATAA	0.358																																																0			14											78	85	82					14																	53119889		2203	4300	6503	52189639	SO:0001583	missense	30001			AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"ERO1 (S. cerevisiae)-like"			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.953T>C	14.37:g.53119889A>G	ENSP00000379042:p.Val318Ala		52189639	A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	A	3.590	-0.083775	0.07141	.	.	ENSG00000197930	ENST00000395686	T	0.42131	0.98	5.37	5.37	0.77165	.	0.120339	0.56097	D	0.000025	T	0.18923	0.0454	N	0.02985	-0.445	0.43708	D	0.99617	B	0.15141	0.012	B	0.19148	0.024	T	0.15521	-1.0434	10	0.02654	T	1	-10.2778	15.3806	0.74651	1.0:0.0:0.0:0.0	.	318	Q96HE7	ERO1A_HUMAN	A	318	ENSP00000379042:V318A	ENSP00000379042:V318A	V	-	2	0	ERO1L	52189639	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.904000	0.75708	2.032000	0.59987	0.528000	0.53228	GTG		0.358	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		G	53119889	A	G	53119889	3	3	352	1	0	0	0	0	1	0	0	0	5239	159	6	4	473	4	ERO1L	14	53119889	Missense_Mutation	SNP	A	TCGA-29-1781-01A-01W-0633-09	32194312	53119889	54229651	62	19203											
DICER1	23405	genome.wustl.edu	37	14	95592996	95592996	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr14:95592996T>G	ENST00000526495.1	-	9	1115	c.824A>C	c.(823-825)gAa>gCa	p.E275A	DICER1_ENST00000343455.3_Missense_Mutation_p.E275A|DICER1_ENST00000541352.1_Missense_Mutation_p.E275A|DICER1_ENST00000527414.1_Missense_Mutation_p.E275A|DICER1_ENST00000393063.1_Missense_Mutation_p.E275A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	275	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAGTGCTTCTTCTAATTCCAT	0.338			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0			14											118	129	126					14																	95592996		2203	4299	6502	94662749	SO:0001583	missense	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.824A>C	14.37:g.95592996T>G	ENSP00000437256:p.Glu275Ala		94662749	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544680	0.27563	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.66	5.39	5.39	0.77823	.	0.089843	0.85682	D	0.000000	T	0.40956	0.1138	L	0.34521	1.04	0.47994	D	0.999563	B	0.09022	0.002	B	0.10450	0.005	T	0.28299	-1.0048	10	0.10111	T	0.7	-26.58	15.4275	0.75065	0.0:0.0:0.0:1.0	.	275	Q9UPY3	DICER_HUMAN	A	275	ENSP00000343745:E275A;ENSP00000437256:E275A;ENSP00000376783:E275A;ENSP00000435681:E275A;ENSP00000444719:E275A	ENSP00000343745:E275A	E	-	2	0	DICER1	94662749	1.000000	0.71417	0.979000	0.43373	0.933000	0.57130	7.228000	0.78079	2.043000	0.60533	0.533000	0.62120	GAA		0.338	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			G	95592996	T	G	95592996	3	3	352	1	0	0	0	0	1	0	0	0	4521	1783	62	5	5028	5	DICER1	14	95592996	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09	42473107	95592996	11756544	63	19204											
CAPN3	825	genome.wustl.edu	37	15	42703146	42703146	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr15:42703146C>A	ENST00000397163.3	+	22	2547	c.2328C>A	c.(2326-2328)aaC>aaA	p.N776K	CAPN3_ENST00000397204.4_Missense_Mutation_p.N111K|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000397200.4_Missense_Mutation_p.N264K|CAPN3_ENST00000337571.4_Missense_Mutation_p.N111K|CAPN3_ENST00000569136.1_Missense_Mutation_p.N111K|CAPN3_ENST00000349748.3_Missense_Mutation_p.N684K|CAPN3_ENST00000356316.3_Missense_Mutation_p.N683K|CAPN3_ENST00000318023.7_Missense_Mutation_p.N770K|CAPN3_ENST00000561817.1_Missense_Mutation_p.N111K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.N770K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	776	Domain IV.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AACACATGAACATCGACTTTG	0.537																																																0			15											241	191	208					15																	42703146		2203	4299	6502	40490438	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2328C>A	15.37:g.42703146C>A	ENSP00000380349:p.Asn776Lys		40490438	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710577	0.48517	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.4	3.54	0.40534	EF-hand-like domain (1);	0.056895	0.64402	U	0.000002	D	0.90793	0.7109	N	0.26092	0.79	0.58432	D	0.999994	P;P;P;P;D;D;P	0.58268	0.85;0.919;0.886;0.94;0.982;0.97;0.588	P;P;B;P;P;P;B	0.59115	0.589;0.589;0.437;0.687;0.852;0.715;0.206	D	0.86574	0.1849	10	0.05959	T	0.93	.	11.7405	0.51790	0.0:0.8588:0.0:0.1412	.	641;689;111;684;770;776;683	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	K	683;264;776;770;684;770;264;111;111	ENSP00000348667:N683K;ENSP00000380349:N776K;ENSP00000350181:N770K;ENSP00000183936:N684K;ENSP00000326281:N770K;ENSP00000380384:N264K;ENSP00000336840:N111K;ENSP00000380387:N111K	ENSP00000326281:N770K	N	+	3	2	CAPN3	40490438	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.608000	0.36847	0.865000	0.35603	0.655000	0.94253	AAC		0.537	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			A	42703146	C	A	42703146	3	1	352	1	0	0	0	0	1	0	0	0	2628	477	17	3	2466	3	CAPN3	15	42703146	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09		42703146	59828246	64	19205											
ANXA2	302	genome.wustl.edu	37	15	60653146	60653146	+	Silent	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr15:60653146G>T	ENST00000396024.3	-	6	510	c.351C>A	c.(349-351)tcC>tcA	p.S117S	ANXA2_ENST00000332680.4_Silent_p.S135S|ANXA2_ENST00000557937.1_5'Flank|ANXA2_ENST00000451270.2_Silent_p.S117S|ANXA2_ENST00000421017.2_Silent_p.S117S	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	117					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	TTACCTTCATGGAAGCTTTTA	0.413																																																0			15											67	62	64					15																	60653146		2203	4300	6503	58440438	SO:0001819	synonymous_variant	302			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.351C>A	15.37:g.60653146G>T			58440438	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Silent	SNP	ENST00000396024.3	37	CCDS10175.1																																																																																				0.413	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		T	60653146	G	T	60653146	2	4	352	1	0	0	0	0	0	0	0	1	718	1335	47	3		3	ANXA2	15	60653146	Silent	SNP	G	TCGA-29-1781-01A-01W-0633-09	17950000	60653146	41878246	65	19206											
ZWILCH	55055	genome.wustl.edu	37	15	66824675	66824675	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr15:66824675C>T	ENST00000307897.5	+	13	1626	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	ZWILCH_ENST00000565627.1_Missense_Mutation_p.P302S|ZWILCH_ENST00000535141.2_Missense_Mutation_p.P302S|ZWILCH_ENST00000446801.2_Missense_Mutation_p.P302S	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	416					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TGGGACTATTCCAGTTCAAAT	0.338																																																0			15											92	90	91					15																	66824675		2201	4298	6499	64611729	SO:0001583	missense	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1246C>T	15.37:g.66824675C>T	ENSP00000311429:p.Pro416Ser		64611729	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125092	0.77436	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.57752	0.38;0.38;0.38	5.55	4.64	0.57946	.	0.098066	0.64402	N	0.000001	T	0.66005	0.2746	M	0.74258	2.255	0.58432	D	0.999999	D	0.54601	0.967	P	0.54759	0.76	T	0.71080	-0.4696	10	0.66056	D	0.02	-4.1536	14.297	0.66321	0.0:0.9286:0.0:0.0714	.	416	Q9H900	ZWILC_HUMAN	S	416;302;302	ENSP00000311429:P416S;ENSP00000402217:P302S;ENSP00000437749:P302S	ENSP00000311429:P416S	P	+	1	0	ZWILCH	64611729	1.000000	0.71417	0.899000	0.35326	0.876000	0.50452	4.883000	0.63128	1.355000	0.45865	0.650000	0.86243	CCA		0.338	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		T	66824675	C	T	66824675	3	4	352	1	0	0	0	0	1	0	0	0	18248	855	30	2	1296	2	ZWILCH	15	66824675	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	6171529	66824675	35706717	66	19207											
LASS3	204219	genome.wustl.edu	37	15	101019638	101019638	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr15:101019638T>A	ENST00000394113.1	-	9	1201	c.511A>T	c.(511-513)Aaa>Taa	p.K171*	CERS3_ENST00000538112.2_Nonsense_Mutation_p.K171*|CERS3_ENST00000284382.4_Nonsense_Mutation_p.K171*|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	171	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CTTACCTGTTTGGGATAGCCA	0.403																																																0			15											138	132	134					15																	101019638		2203	4300	6503	98837161	SO:0001587	stop_gained	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.511A>T	15.37:g.101019638T>A	ENSP00000377672:p.Lys171*		98837161	Q8NE64|Q8NEN6	Nonsense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	T	37	6.095806	0.97276	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	.	.	.	5.18	4.04	0.47022	.	0.376195	0.29940	N	0.010817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.9659	7.1421	0.25562	0.1457:0.0:0.1519:0.7024	.	.	.	.	X	171;182;171	.	ENSP00000284382:K171X	K	-	1	0	CERS3	98837161	0.069000	0.21087	0.901000	0.35422	0.333000	0.28666	1.817000	0.39002	0.787000	0.33731	-0.644000	0.03951	AAA		0.403	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		A	101019638	T	A	101019638	4	1	352	1	0	0	0	0	0	1	0	0	8640	1821	63	5	664	5	LASS3	15	101019638	Nonsense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09	34194963	101019638	1511754	67	19208											
OR4F6	390648	genome.wustl.edu	37	15	102346155	102346155	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr15:102346155C>A	ENST00000328882.4	+	1	254	c.233C>A	c.(232-234)gCt>gAt	p.A78D		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCCTCCACAGCTCCCAAGATG	0.463																																																0			15											252	242	245					15																	102346155		2203	4300	6503	100163678	SO:0001583	missense	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.233C>A	15.37:g.102346155C>A	ENSP00000327525:p.Ala78Asp		100163678	B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	8.224	0.803172	0.16397	.	.	ENSG00000184140	ENST00000328882	T	0.02140	4.43	4.75	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.654033	0.14215	N	0.333793	T	0.04452	0.0122	M	0.82433	2.59	0.09310	N	1	P	0.37781	0.608	B	0.35182	0.197	T	0.25779	-1.0122	10	0.87932	D	0	.	6.8056	0.23777	0.0:0.7129:0.0:0.2871	.	78	Q8NGB9	OR4F6_HUMAN	D	78	ENSP00000327525:A78D	ENSP00000327525:A78D	A	+	2	0	OR4F6	100163678	0.000000	0.05858	0.053000	0.19242	0.384000	0.30261	0.308000	0.19314	0.712000	0.32039	-0.216000	0.12614	GCT		0.463	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			A	102346155	C	A	102346155	3	1	352	1	0	0	0	0	1	0	0	0	11066	797	28	3	235	3	OR4F6	15	102346155	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	1326517	102346155	185237	68	19209											
ZKSCAN2	342357	genome.wustl.edu	37	16	25255398	25255398	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr16:25255398C>G	ENST00000328086.7	-	6	2492	c.1689G>C	c.(1687-1689)aaG>aaC	p.K563N		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	563					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CATTTTTCACCTTGCGGTAAC	0.552																																																0			16											95	93	94					16																	25255398		2197	4300	6497	25162899	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1689G>C	16.37:g.25255398C>G	ENSP00000331626:p.Lys563Asn		25162899	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577936	0.65878	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.49720	0.77	5.48	2.03	0.26663	.	0.095606	0.46442	D	0.000281	T	0.64616	0.2614	M	0.82323	2.585	0.35115	D	0.766487	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.979	T	0.70831	-0.4765	10	0.87932	D	0	-31.5886	6.463	0.21966	0.0:0.2934:0.0:0.7066	.	359;563	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	N	563	ENSP00000331626:K563N	ENSP00000331626:K563N	K	-	3	2	ZKSCAN2	25162899	0.943000	0.32029	1.000000	0.80357	0.995000	0.86356	-0.333000	0.07894	0.463000	0.27118	-0.302000	0.09304	AAG		0.552	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		G	25255398	C	G	25255398	3	3	352	1	0	0	0	0	1	0	0	0	17687	680	24	3	1222	3	ZKSCAN2	16	25255398	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09		25255398	65099355	69	19210											
KIAA0556	23247	genome.wustl.edu	37	16	27760950	27760950	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr16:27760950G>T	ENST00000261588.4	+	16	2688	c.2669G>T	c.(2668-2670)aGt>aTt	p.S890I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	890						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGTGGCGCAGTGAGCAGGAG	0.617																																																0			16											107	102	103					16																	27760950		2197	4300	6497	27668451	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2669G>T	16.37:g.27760950G>T	ENSP00000261588:p.Ser890Ile		27668451	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925012	0.73213	.	.	ENSG00000047578	ENST00000261588	T	0.12255	2.7	4.7	2.66	0.31614	.	0.147232	0.64402	D	0.000014	T	0.14614	0.0353	L	0.53249	1.67	0.20196	N	0.999924	P	0.49090	0.919	P	0.46718	0.525	T	0.08576	-1.0715	10	0.45353	T	0.12	-6.285	4.3987	0.11376	0.207:0.3871:0.4059:0.0	.	890	O60303	K0556_HUMAN	I	890	ENSP00000261588:S890I	ENSP00000261588:S890I	S	+	2	0	KIAA0556	27668451	0.960000	0.32886	0.045000	0.18777	0.576000	0.36127	1.649000	0.37281	1.063000	0.40649	0.655000	0.94253	AGT		0.617	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27760950	G	T	27760950	3	4	352	1	0	0	0	0	1	0	0	0	8183	1029	36	3	2731	3	KIAA0556	16	27760950	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	2505552	27760950	62593803	70	19211											
XPO6	23214	genome.wustl.edu	37	16	28167688	28167688	+	Silent	SNP	T	T	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr16:28167688T>A	ENST00000304658.5	-	7	1304	c.804A>T	c.(802-804)ccA>ccT	p.P268P	XPO6_ENST00000565698.1_Silent_p.P254P|XPO6_ENST00000561488.1_5'Flank	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	268					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TAAGGAGGGATGGGGTGATGC	0.537																																																0			16											102	108	106					16																	28167688		2047	4194	6241	28075189	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.804A>T	16.37:g.28167688T>A			28075189	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																				0.537	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		A	28167688	T	A	28167688	2	1	352	1	0	0	0	0	0	0	0	1	17448	1451	51	5		5	XPO6	16	28167688	Silent	SNP	T	TCGA-29-1781-01A-01W-0633-09	406738	28167688	62187065	71	19212											
HSD3B7	80270	genome.wustl.edu	37	16	30997959	30997959	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr16:30997959C>G	ENST00000297679.5	+	5	558	c.465C>G	c.(463-465)caC>caG	p.H155Q	HSD3B7_ENST00000262520.6_Missense_Mutation_p.H155Q|HSD3B7_ENST00000353250.5_Missense_Mutation_p.H155Q|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	155					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGCAGTGCACAGGCACCCCT	0.612																																																0			16											81	82	82					16																	30997959		2197	4300	6497	30905460	SO:0001583	missense	80270			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.465C>G	16.37:g.30997959C>G	ENSP00000297679:p.His155Gln		30905460	Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127127	0.77549	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;T	0.88046	-2.33;-2.33;-0.01	5.65	2.64	0.31445	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.095052	0.64402	D	0.000001	D	0.90024	0.6885	M	0.69463	2.115	0.50632	D	0.999887	P;P	0.52577	0.589;0.954	B;P	0.62491	0.405;0.903	D	0.87621	0.2510	10	0.39692	T	0.17	-36.0312	9.4153	0.38517	0.0:0.7606:0.0:0.2394	.	155;155	Q96M28;Q9H2F3	.;3BHS7_HUMAN	Q	155	ENSP00000262520:H155Q;ENSP00000370662:H155Q;ENSP00000297679:H155Q	ENSP00000262520:H155Q	H	+	3	2	HSD3B7	30905460	0.040000	0.19996	0.131000	0.22000	0.921000	0.55340	0.296000	0.19083	0.756000	0.33013	0.561000	0.74099	CAC		0.612	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			G	30997959	C	G	30997959	3	3	352	1	0	0	0	0	1	0	0	0	7392	477	17	3	479	3	HSD3B7	16	30997959	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	2830271	30997959	59356794	72	19213											
TRPV3	162514	genome.wustl.edu	37	17	3436187	3436187	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr17:3436187T>A	ENST00000576742.1	-	8	1150	c.829A>T	c.(829-831)Att>Ttt	p.I277F	TRPV3_ENST00000572519.1_Missense_Mutation_p.I277F|TRPV3_ENST00000301365.4_Missense_Mutation_p.I277F	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	277					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGCTGCACAATCTCGGGCTGG	0.637																																																0			17											122	91	101					17																	3436187		2203	4300	6503	3382937	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.829A>T	17.37:g.3436187T>A	ENSP00000461518:p.Ile277Phe		3382937	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.785216	0.70337	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D;T	0.86366	-2.11;-0.46	5.05	5.05	0.67936	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	D	0.92724	0.7687	M	0.77616	2.38	0.54753	D	0.999983	P;D;P;D;D;D;P	0.71674	0.949;0.976;0.942;0.976;0.998;0.998;0.928	P;P;P;P;P;D;B	0.68943	0.747;0.905;0.543;0.905;0.905;0.961;0.408	D	0.93669	0.6988	10	0.87932	D	0	-8.3445	14.2773	0.66189	0.0:0.0:0.0:1.0	.	261;261;277;261;277;277;277	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	F	277;277;261	ENSP00000371338:I277F;ENSP00000301365:I277F	ENSP00000301365:I277F	I	-	1	0	TRPV3	3382937	1.000000	0.71417	0.997000	0.53966	0.467000	0.32768	3.130000	0.50508	2.023000	0.59567	0.459000	0.35465	ATT		0.637	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		A	3436187	T	A	3436187	3	1	352	1	0	0	0	0	1	0	0	0	16597	1435	50	5	1587	5	TRPV3	17	3436187	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09		3436187	77759023	73	19214											
TP53	7157	genome.wustl.edu	37	17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-	rs397516437		TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr17:7577558delG	ENST00000269305.4	-	7	912	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S241fs	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	CGCCCATGCAGGAACTGTTAC	0.577		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"	50	Deletion - In frame(13)|Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Substitution - Missense(5)|Substitution - coding silent(3)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	large_intestine(8)|biliary_tract(6)|breast(5)|upper_aerodigestive_tract(4)|stomach(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|skin(2)|eye(2)|pancreas(2)|liver(1)	17											138	107	117					17																	7577558		2203	4300	6503	7518283	SO:0001589	frameshift_variant	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.723delC	17.37:g.7577558delG	ENSP00000269305:p.Ser241fs		7518283	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577558	G	-	7577558	7	5	352	1	0	1	0	1	0	0	0	0	16381	987	35	0	567	0	TP53	17	7577558	Frame_Shift_Del	DEL	G	TCGA-29-1781-01A-01W-0633-09	4141371	7577558	73617652	74	19215											
PEX12	5193	genome.wustl.edu	37	17	33904543	33904543	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr17:33904543A>G	ENST00000225873.4	-	2	801	c.194T>C	c.(193-195)cTg>cCg	p.L65P	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	65					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGATCTAGCAGAGTAAAGAT	0.393																																																0			17											125	139	134					17																	33904543		2199	4298	6497	30928656	SO:0001583	missense	5193			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.194T>C	17.37:g.33904543A>G	ENSP00000225873:p.Leu65Pro		30928656	B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383471	0.82792	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.86366	-2.11	5.63	5.63	0.86233	Pex, N-terminal (1);	0.301547	0.31589	N	0.007381	D	0.90645	0.7066	M	0.72118	2.19	0.80722	D	1	P	0.46912	0.886	P	0.52710	0.707	D	0.91407	0.5148	10	0.62326	D	0.03	0.0568	15.0234	0.71650	1.0:0.0:0.0:0.0	.	65	O00623	PEX12_HUMAN	P	65	ENSP00000225873:L65P	ENSP00000225873:L65P	L	-	2	0	PEX12	30928656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.702000	0.74628	2.142000	0.66516	0.528000	0.53228	CTG		0.393	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		G	33904543	A	G	33904543	3	3	352	1	0	0	0	0	1	0	0	0	11740	188	7	4	893	4	PEX12	17	33904543	Missense_Mutation	SNP	A	TCGA-29-1781-01A-01W-0633-09	26326985	33904543	47290667	75	19216											
MLLT6	4302	genome.wustl.edu	37	17	36873089	36873089	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr17:36873089G>T	ENST00000325718.7	+	10	1597	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	MIR4726_ENST00000577947.1_RNA|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	502					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCAGTGCCCAGCTGGCTGGCT	0.672			T	MLL	AL																																		Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	0			17											20	23	22					17																	36873089		2203	4300	6503	34126615	SO:0001583	missense	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1506G>T	17.37:g.36873089G>T	ENSP00000316426:p.Gln502His		34126615	Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535221	0.64972	.	.	ENSG00000108292	ENST00000325718	T	0.14391	2.51	5.17	4.2	0.49525	.	0.335332	0.29730	N	0.011359	T	0.25827	0.0629	L	0.44542	1.39	0.34560	D	0.712324	D	0.57571	0.98	D	0.69654	0.965	T	0.31420	-0.9944	10	0.72032	D	0.01	.	9.4944	0.38980	0.0947:0.0:0.9053:0.0	.	502	P55198	AF17_HUMAN	H	502	ENSP00000316426:Q502H	ENSP00000316426:Q502H	Q	+	3	2	MLLT6	34126615	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.011000	0.29911	1.421000	0.47157	0.561000	0.74099	CAG		0.672	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		T	36873089	G	T	36873089	3	4	352	1	0	0	0	0	1	0	0	0	9630	962	34	3	1544	3	MLLT6	17	36873089	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	2968546	36873089	44322121	76	19217											
STARD3	10948	genome.wustl.edu	37	17	37809927	37809927	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr17:37809927A>C	ENST00000336308.5	+	2	361	c.143A>C	c.(142-144)gAt>gCt	p.D48A	STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Missense_Mutation_p.D48A|STARD3_ENST00000580611.1_Missense_Mutation_p.D48A|STARD3_ENST00000394250.4_Missense_Mutation_p.D48A	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	48	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCATCTCTGATGTCCGCCGC	0.632											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			17											123	96	105					17																	37809927		2203	4300	6503	35063453	SO:0001583	missense	10948				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.143A>C	17.37:g.37809927A>C	ENSP00000337446:p.Asp48Ala	873	35063453	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	A	9.659	1.143541	0.21205	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250;ENST00000443521	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.48	3.3	0.37823	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	T	0.58640	-0.7601	10	0.42905	T	0.14	-10.0803	10.8982	0.47036	0.8427:0.1573:0.0:0.0	.	48;48;48;48	F5H0G2;B4DWG5;A8MXA4;Q14849	.;.;.;STAR3_HUMAN	A	48	ENSP00000337446:D48A;ENSP00000439869:D48A;ENSP00000377794:D48A;ENSP00000411710:D48A	ENSP00000337446:D48A	D	+	2	0	STARD3	35063453	1.000000	0.71417	0.966000	0.40874	0.137000	0.21094	6.981000	0.76166	1.798000	0.52647	0.260000	0.18958	GAT		0.632	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			C	37809927	A	C	37809927	3	2	352	1	0	0	0	0	1	0	0	0	15259	333	12	5	145	5	STARD3	17	37809927	Missense_Mutation	SNP	A	TCGA-29-1781-01A-01W-0633-09	936838	37809927	43385283	77	19218											
BPTF	2186	genome.wustl.edu	37	17	65941680	65941680	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr17:65941680C>G	ENST00000321892.4	+	23	7295	c.7234C>G	c.(7234-7236)Cag>Gag	p.Q2412E	BPTF_ENST00000335221.5_Missense_Mutation_p.Q2412E|BPTF_ENST00000424123.3_Missense_Mutation_p.Q2273E|BPTF_ENST00000306378.6_Missense_Mutation_p.Q2286E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2412					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			aacccagccccagtccccagc	0.577																																																0			17											51	50	50					17																	65941680		2203	4300	6503	63372142	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7234C>G	17.37:g.65941680C>G	ENSP00000315454:p.Gln2412Glu		63372142	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	4.791	0.147110	0.09134	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.65178	0.11;-0.14;0.06	5.36	0.953	0.19590	.	.	.	.	.	T	0.52386	0.1731	L	0.59436	1.845	0.20821	N	0.999845	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.0;0.003;0.003	T	0.45687	-0.9244	9	0.46703	T	0.11	.	4.4108	0.11432	0.1292:0.6086:0.1247:0.1376	.	90;2286;2412	B4DJV8;Q12830-2;Q12830-4	.;.;.	E	2286;2412;2412	ENSP00000307208:Q2286E;ENSP00000334351:Q2412E;ENSP00000315454:Q2412E	ENSP00000307208:Q2286E	Q	+	1	0	BPTF	63372142	0.015000	0.18098	0.057000	0.19452	0.661000	0.39034	1.081000	0.30791	-0.023000	0.13963	-0.142000	0.14014	CAG		0.577	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		G	65941680	C	G	65941680	3	3	352	1	0	0	0	0	1	0	0	0	1495	595	21	3	7324	3	BPTF	17	65941680	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	28131753	65941680	15253530	78	19219											
CTAGE1	64693	genome.wustl.edu	37	18	19997133	19997133	+	5'Flank	SNP	T	T	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr18:19997133T>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.R214S			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTTCAAATGTTCTTTTCTGTT	0.363																																																0			18											110	107	108					18																	19997133		2198	4299	6497	18251131	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997133T>A	Exception_encountered		18251131	B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37		.	.	.	.	.	.	.	.	.	.	T	5.501	0.277450	0.10403	.	.	ENSG00000212710	ENST00000391403	T	0.30182	1.54	0.909	-0.548	0.11833	.	.	.	.	.	T	0.19087	0.0458	L	0.38175	1.15	0.09310	N	1	B	0.15930	0.015	B	0.19666	0.026	T	0.29518	-1.0009	8	.	.	.	.	3.0397	0.06134	0.0:0.3179:0.0:0.6821	.	214	Q96RT6	CTGE2_HUMAN	S	214	ENSP00000375220:R214S	.	R	-	3	2	CTAGE1	18251131	0.103000	0.21917	0.157000	0.22605	0.180000	0.23129	-0.350000	0.07721	-0.173000	0.10761	0.369000	0.22263	AGA		0.363	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		A	19997133	T	A	19997133	1	1	352	0	1	0	0	0	0	0	0	0	3992	1780	62	5		5	CTAGE1	18	19997133	5'Flank	SNP	T	TCGA-29-1781-01A-01W-0633-09		19997133	58080115	79	19220											
DCC	1630	genome.wustl.edu	37	18	50683756	50683756	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr18:50683756C>A	ENST00000442544.2	+	8	1908	c.1292C>A	c.(1291-1293)gCt>gAt	p.A431D	DCC_ENST00000412726.1_Missense_Mutation_p.A279D|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.A86D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	431	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCCCTTCGGCTCCCAGAGAT	0.542																																																0			18											186	172	177					18																	50683756		2203	4300	6503	48937754	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1292C>A	18.37:g.50683756C>A	ENSP00000389140:p.Ala431Asp		48937754		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152260	0.57259	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.61742	0.08;0.08	5.34	5.34	0.76211	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149420	0.42682	D	0.000663	D	0.82545	0.5060	H	0.95504	3.68	0.52501	D	0.999954	P;P;D	0.58970	0.956;0.956;0.984	P;P;D	0.66351	0.874;0.874;0.943	D	0.86541	0.1828	10	0.48119	T	0.1	.	17.8248	0.88661	0.0:1.0:0.0:0.0	.	279;279;431	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	D	431;364;279	ENSP00000389140:A431D;ENSP00000397322:A279D	ENSP00000304146:A364D	A	+	2	0	DCC	48937754	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.027000	0.76463	2.510000	0.84645	0.561000	0.74099	GCT		0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		A	50683756	C	A	50683756	3	1	352	1	0	0	0	0	1	0	0	0	4282	797	28	3	1322	3	DCC	18	50683756	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	30686623	50683756	27393492	80	19221											
DNM2	1785	genome.wustl.edu	37	19	10916607	10916607	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr19:10916607C>G	ENST00000355667.6	+	13	1589	c.1509C>G	c.(1507-1509)agC>agG	p.S503R	DNM2_ENST00000585892.1_Missense_Mutation_p.S503R|DNM2_ENST00000389253.4_Missense_Mutation_p.S503R|DNM2_ENST00000408974.4_Missense_Mutation_p.S503R|DNM2_ENST00000314646.5_Missense_Mutation_p.S503R|DNM2_ENST00000359692.6_Missense_Mutation_p.S503R	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	503					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGCAGAGGAGCACGCAGCTGA	0.597			"F, N, Splice, Mis, O"		ETP ALL																																		Rec	yes		19	19p13.2	1785	dynamin 2		L	0			19											174	137	150					19																	10916607		2203	4300	6503	10777607	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1509C>G	19.37:g.10916607C>G	ENSP00000347890:p.Ser503Arg		10777607	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126198	0.37533	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.64	4.6	0.57074	Dynamin central domain (1);Pleckstrin homology-type (1);	0.204052	0.41938	D	0.000786	T	0.71937	0.3399	M	0.65498	2.005	0.41845	D	0.990148	P;P;B;B;B;B	0.45986	0.87;0.598;0.143;0.313;0.369;0.379	P;B;B;B;B;B	0.45794	0.493;0.392;0.281;0.361;0.281;0.241	T	0.72616	-0.4239	10	0.36615	T	0.2	-17.8985	13.6609	0.62366	0.0:0.9241:0.0:0.0759	.	97;236;503;503;503;503	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	R	503	ENSP00000386192:S503R;ENSP00000347890:S503R;ENSP00000352721:S503R;ENSP00000373905:S503R;ENSP00000313164:S503R	ENSP00000313164:S503R	S	+	3	2	DNM2	10777607	0.264000	0.24093	0.993000	0.49108	0.579000	0.36224	1.385000	0.34408	1.383000	0.46405	0.650000	0.86243	AGC		0.597	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		G	10916607	C	G	10916607	3	3	352	1	0	0	0	0	1	0	0	0	4672	709	25	3	1702	3	DNM2	19	10916607	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09		10916607	48212376	81	19222											
ECSIT	51295	genome.wustl.edu	37	19	11623906	11623906	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr19:11623906C>G	ENST00000270517.7	-	4	838	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	ECSIT_ENST00000591104.1_Missense_Mutation_p.E235Q|ECSIT_ENST00000591352.1_Intron|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.E235Q|ECSIT_ENST00000592312.1_Missense_Mutation_p.E119Q|ECSIT_ENST00000588998.1_Intron|RN7SL833P_ENST00000498758.2_RNA	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	235					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGGTCAGGCTCCATGTGCCGC	0.642																																																0			19											52	48	49					19																	11623906		2203	4300	6503	11484906	SO:0001583	missense	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.703G>C	19.37:g.11623906C>G	ENSP00000270517:p.Glu235Gln		11484906	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	c	14.11	2.438649	0.43326	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.77489	-1.1;-1.1	4.91	3.86	0.44501	.	0.055115	0.64402	D	0.000001	D	0.82444	0.5038	M	0.63428	1.95	0.36749	D	0.882674	B;D	0.59767	0.222;0.986	B;P	0.55545	0.11;0.778	D	0.86368	0.1721	10	0.51188	T	0.08	-15.5773	14.5645	0.68165	0.0:0.8524:0.1476:0.0	.	235;235	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	Q	235	ENSP00000270517:E235Q;ENSP00000252440:E235Q	ENSP00000252440:E235Q	E	-	1	0	ECSIT	11484906	1.000000	0.71417	0.998000	0.56505	0.025000	0.11179	6.970000	0.76099	1.199000	0.43173	-0.191000	0.12829	GAG		0.642	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		G	11623906	C	G	11623906	3	3	352	1	0	0	0	0	1	0	0	0	4900	864	30	3	612	3	ECSIT	19	11623906	Missense_Mutation	SNP	C	TCGA-29-1781-01A-01W-0633-09	707299	11623906	47505077	82	19223											
ABHD8	79575	genome.wustl.edu	37	19	17411733	17411733	+	Silent	SNP	A	A	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr19:17411733A>T	ENST00000247706.3	-	2	932	c.693T>A	c.(691-693)gcT>gcA	p.A231A	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	231							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCATGTCCTCAGCCAGCGCAT	0.617																																					Ovarian(156;1368 2543 15275 41187)											0			19											74	80	78					19																	17411733		2203	4299	6502	17272733	SO:0001819	synonymous_variant	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.693T>A	19.37:g.17411733A>T			17272733	Q9HAE9	Silent	SNP	ENST00000247706.3	37	CCDS12355.1																																																																																				0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		T	17411733	A	T	17411733	2	4	352	1	0	0	0	0	0	0	0	1	87	175	7	5		5	ABHD8	19	17411733	Silent	SNP	A	TCGA-29-1781-01A-01W-0633-09	5787827	17411733	41717250	83	19224											
AXL	558	genome.wustl.edu	37	19	41727909	41727909	+	Silent	SNP	C	C	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr19:41727909C>A	ENST00000301178.4	+	4	724	c.534C>A	c.(532-534)gtC>gtA	p.V178V	CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Silent_p.V178V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	178	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGGATGCTGTCCCCCTGGCCA	0.682																																																0			19											21	21	21					19																	41727909		2203	4300	6503	46419749	SO:0001819	synonymous_variant	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.534C>A	19.37:g.41727909C>A			46419749	Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	CCDS12575.1																																																																																				0.682	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			A	41727909	C	A	41727909	2	1	352	1	0	0	0	0	0	0	0	1	1238	842	30	3		3	AXL	19	41727909	Silent	SNP	C	TCGA-29-1781-01A-01W-0633-09	24316176	41727909	17401074	84	19225											
CCDC155	147872	genome.wustl.edu	37	19	49898432	49898432	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr19:49898432G>C	ENST00000447857.3	+	4	423	c.218G>C	c.(217-219)cGc>cCc	p.R73P		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	73						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGGATGCACGCCTCCAAACA	0.622																																																0			19											56	60	59					19																	49898432		2023	4172	6195	54590244	SO:0001583	missense	147872				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.218G>C	19.37:g.49898432G>C	ENSP00000404220:p.Arg73Pro		54590244	Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596322	0.46318	.	.	ENSG00000161609	ENST00000447857	T	0.63255	-0.03	4.52	3.46	0.39613	EF-hand-like domain (1);	0.277348	0.33457	N	0.004886	T	0.70911	0.3278	M	0.73962	2.25	0.25460	N	0.987929	D;D;D	0.71674	0.993;0.993;0.998	P;P;P	0.61328	0.884;0.884;0.887	T	0.60105	-0.7328	10	0.25751	T	0.34	-6.9641	9.1061	0.36698	0.1112:0.0:0.8888:0.0	.	73;73;153	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	P	73	ENSP00000404220:R73P	ENSP00000404220:R73P	R	+	2	0	CCDC155	54590244	0.887000	0.30362	0.946000	0.38457	0.978000	0.69477	2.282000	0.43461	2.246000	0.74042	0.462000	0.41574	CGC		0.622	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		C	49898432	G	C	49898432	3	2	352	1	0	0	0	0	1	0	0	0	2788	1087	38	3	228	3	CCDC155	19	49898432	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	8170523	49898432	9230551	85	19226											
ZNF473	25888	genome.wustl.edu	37	19	50548294	50548294	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr19:50548294G>C	ENST00000595661.1	+	6	1089	c.594G>C	c.(592-594)caG>caC	p.Q198H	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.Q198H|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.Q186H|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.Q198H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	198					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACCACAGCCAGCAGGATTCTG	0.458																																																0			19											67	62	64					19																	50548294		2203	4300	6503	55240106	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.594G>C	19.37:g.50548294G>C	ENSP00000472808:p.Gln198His		55240106	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025805	0.35701	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09817	3.02;3.02;2.94	4.36	2.09	0.27110	.	0.398749	0.18559	N	0.137667	T	0.05547	0.0146	L	0.27053	0.805	0.21020	N	0.999809	B	0.30914	0.3	B	0.25405	0.06	T	0.31668	-0.9935	10	0.35671	T	0.21	-12.9547	1.8078	0.03084	0.1261:0.2:0.4673:0.2066	.	198	Q8WTR7	ZN473_HUMAN	H	198;198;186	ENSP00000270617:Q198H;ENSP00000375697:Q198H;ENSP00000388961:Q186H	ENSP00000270617:Q198H	Q	+	3	2	ZNF473	55240106	0.000000	0.05858	0.076000	0.20297	0.155000	0.21991	-0.083000	0.11286	0.648000	0.30732	0.655000	0.94253	CAG		0.458	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		C	50548294	G	C	50548294	3	2	352	1	0	0	0	0	1	0	0	0	17931	962	34	3	608	3	ZNF473	19	50548294	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	649862	50548294	8580689	86	19227											
FPR3	2359	genome.wustl.edu	37	19	52327524	52327524	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr19:52327524T>A	ENST00000339223.4	+	2	702	c.523T>A	c.(523-525)Tac>Aac	p.Y175N	FPR3_ENST00000595991.1_Missense_Mutation_p.Y175N	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	175					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGGGGACACATACTGTATTTT	0.438																																																0			19											186	168	174					19																	52327524		2203	4300	6503	57019336	SO:0001583	missense	2359				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.523T>A	19.37:g.52327524T>A	ENSP00000341821:p.Tyr175Asn		57019336		Missense_Mutation	SNP	ENST00000339223.4	37	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	4.236	0.042706	0.08196	.	.	ENSG00000187474	ENST00000339223	T	0.38401	1.14	2.34	0.0413	0.14213	GPCR, rhodopsin-like superfamily (1);	0.786233	0.11220	N	0.586799	T	0.35799	0.0944	L	0.56199	1.76	0.09310	N	1	B	0.27765	0.188	B	0.38755	0.281	T	0.43718	-0.9374	10	0.29301	T	0.29	.	7.3001	0.26415	0.0:0.2529:0.0:0.7471	.	175	P25089	FPR3_HUMAN	N	175	ENSP00000341821:Y175N	ENSP00000341821:Y175N	Y	+	1	0	FPR3	57019336	0.537000	0.26386	0.000000	0.03702	0.008000	0.06430	1.848000	0.39309	-0.649000	0.05430	-1.773000	0.00660	TAC		0.438	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		A	52327524	T	A	52327524	3	1	352	1	0	0	0	0	1	0	0	0	6040	1406	49	5	525	5	FPR3	19	52327524	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09	1779230	52327524	6801459	87	19228											
NLRP2	55655	genome.wustl.edu	37	19	55501460	55501460	+	Silent	SNP	C	C	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr19:55501460C>T	ENST00000543010.1	+	9	2580	c.2437C>T	c.(2437-2439)Ctg>Ttg	p.L813L	NLRP2_ENST00000263437.6_Silent_p.L810L|NLRP2_ENST00000339757.7_Silent_p.L791L|NLRP2_ENST00000427260.2_Silent_p.L790L|NLRP2_ENST00000537859.1_Silent_p.L791L|NLRP2_ENST00000538819.1_Silent_p.L789L|NLRP2_ENST00000391721.4_Silent_p.L789L|NLRP2_ENST00000448584.2_Silent_p.L813L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	813					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAACCAGTCCCTGACGTGCGT	0.512																																																0			19											134	114	121					19																	55501460		2203	4300	6503	60193272	SO:0001819	synonymous_variant	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2437C>T	19.37:g.55501460C>T			60193272	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																				0.512	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55501460	C	T	55501460	2	4	352	1	0	0	0	0	0	0	0	1	10477	680	24	2		2	NLRP2	19	55501460	Silent	SNP	C	TCGA-29-1781-01A-01W-0633-09	3173936	55501460	3627523	88	19229											
ADNP	23394	genome.wustl.edu	37	20	49509563	49509563	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr20:49509563T>C	ENST00000396029.3	-	5	2255	c.1688A>G	c.(1687-1689)cAt>cGt	p.H563R	ADNP_ENST00000396032.3_Missense_Mutation_p.H563R|ADNP_ENST00000371602.4_Missense_Mutation_p.H563R|ADNP_ENST00000349014.3_Missense_Mutation_p.H563R	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	563					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TACCAGGAGATGGATGTTAGT	0.448																																																0			20											146	138	140					20																	49509563		2203	4300	6503	48942970	SO:0001583	missense	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1688A>G	20.37:g.49509563T>C	ENSP00000379346:p.His563Arg		48942970	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846197	0.51164	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.75	5.75	0.90469	.	0.045175	0.85682	D	0.000000	T	0.46521	0.1397	L	0.38175	1.15	0.53688	D	0.99997	P	0.37864	0.61	B	0.31191	0.125	T	0.46803	-0.9165	9	0.39692	T	0.17	-9.7608	16.0576	0.80816	0.0:0.0:0.0:1.0	.	563	Q9H2P0	ADNP_HUMAN	R	563	.	ENSP00000342905:H563R	H	-	2	0	ADNP	48942970	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.683000	0.84093	2.188000	0.69820	0.528000	0.53228	CAT		0.448	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		C	49509563	T	C	49509563	3	2	352	1	0	0	0	0	1	0	0	0	323	1464	51	4	1624	4	ADNP	20	49509563	Missense_Mutation	SNP	T	TCGA-29-1781-01A-01W-0633-09		49509563	13515957	89	19230											
MYO18B	84700	genome.wustl.edu	37	22	26422587	26422587	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chr22:26422587A>T	ENST00000407587.2	+	43	6819	c.6650A>T	c.(6649-6651)aAg>aTg	p.K2217M	MYO18B_ENST00000335473.7_Missense_Mutation_p.K2216M|MYO18B_ENST00000536101.1_Missense_Mutation_p.K2216M			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2216						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTCCAGAGAAAGTCCACAGAG	0.557																																																0			22											33	36	35					22																	26422587		1927	4123	6050	24752587	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6650A>T	22.37:g.26422587A>T	ENSP00000386096:p.Lys2217Met		24752587	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.41|14.41	2.527592|2.527592	0.44969|0.44969	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88201|.	-2.33;-2.33;-2.35|.	4.5|4.5	2.3|2.3	0.28687|0.28687	.|.	0.184196|.	0.26594|.	N|.	0.023506|.	T|T	0.40645|0.40645	0.1125|0.1125	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.89917|.	0.987;0.998;0.998;1.0;0.999|.	P;P;P;D;D|.	0.70016|.	0.821;0.818;0.818;0.967;0.912|.	T|T	0.31166|0.31166	-0.9953|-0.9953	10|5	0.87932|.	D|.	0|.	.|.	4.2088|4.2088	0.10502|0.10502	0.7214:0.0:0.0988:0.1798|0.7214:0.0:0.0988:0.1798	.|.	1729;2218;2216;2217;2216|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	M|C	2216;2216;2217|166	ENSP00000441229:K2216M;ENSP00000334563:K2216M;ENSP00000386096:K2217M|.	ENSP00000334563:K2216M|.	K|S	+|+	2|1	0|0	MYO18B|MYO18B	24752587|24752587	0.033000|0.033000	0.19621|0.19621	0.118000|0.118000	0.21660|0.21660	0.012000|0.012000	0.07955|0.07955	2.294000|2.294000	0.43567|0.43567	0.673000|0.673000	0.31224|0.31224	-0.468000|-0.468000	0.05107|0.05107	AAG|AGT		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26422587	A	T	26422587	3	4	352	1	0	0	0	0	1	0	0	0	10066	72	3	5	6813	5	MYO18B	22	26422587	Missense_Mutation	SNP	A	TCGA-29-1781-01A-01W-0633-09		26422587	24881979	90	19231											
CXorf59	286464	genome.wustl.edu	37	X	36162690	36162690	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chrX:36162690G>A	ENST00000313548.4	+	11	1459	c.1273G>A	c.(1273-1275)Gtg>Atg	p.V425M		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	425	CH.					integral component of membrane (GO:0016021)											gtgtctgagggtgtttccaaa	0.458																																																0			X											120	122	122					X																	36162690		2202	4300	6502	36072611	SO:0001583	missense	286464			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1273G>A	X.37:g.36162690G>A	ENSP00000324767:p.Val425Met		36072611		Missense_Mutation	SNP	ENST00000313548.4	37	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	4.655	0.121808	0.08931	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	0.694	0.694	0.18062	.	2.567330	0.04998	U	0.468523	T	0.35856	0.0946	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	D	0.65684	0.937	T	0.44406	-0.9330	8	0.33940	T	0.23	.	.	.	.	.	425	Q8N9S7	CX059_HUMAN	M	425	.	ENSP00000324767:V425M	V	+	1	0	CXorf59	36072611	0.356000	0.24930	0.048000	0.18961	0.046000	0.14306	0.529000	0.23019	0.595000	0.29777	0.600000	0.82982	GTG		0.458	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		A	36162690	G	A	36162690	3	1	352	1	0	0	0	0	1	0	0	0	4115	1261	44	2	1311	2	CXorf59	23	36162690	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09		36162690	119107870	91	19232											
HNRNPH2	3188	genome.wustl.edu	37	X	100667421	100667421	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1781-01A-01W-0633-09	TCGA-29-1781-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f3b7334f-80de-4485-8457-953d995beda5	07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f	g.chrX:100667421G>T	ENST00000316594.5	+	2	523	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	149	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGACTTTCAGGGGCGAAGCAC	0.473																																																0			X											87	81	83					X																	100667421		2203	4300	6503	100554077	SO:0001583	missense	3188			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.445G>T	X.37:g.100667421G>T	ENSP00000361927:p.Gly149Trp		100554077	A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095307	0.56075	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.13901	2.55	4.73	4.73	0.59995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	H	0.98005	4.125	0.80722	D	1	P	0.44429	0.835	P	0.49477	0.612	T	0.63972	-0.6516	10	0.87932	D	0	-5.5119	14.3235	0.66502	0.0:0.0:1.0:0.0	.	149	P55795	HNRH2_HUMAN	W	104;149	ENSP00000361927:G149W	ENSP00000361927:G149W	G	+	1	0	HNRNPH2	100554077	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.408000	0.97327	2.348000	0.79779	0.513000	0.50165	GGG		0.473	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		T	100667421	G	T	100667421	3	4	352	1	0	0	0	0	1	0	0	0	7267	1232	43	3	447	3	HNRNPH2	23	100667421	Missense_Mutation	SNP	G	TCGA-29-1781-01A-01W-0633-09	64504731	100667421	54603139	92	19233											
LDLRAP1	26119	genome.wustl.edu	37	1	25883750	25883750	+	Missense_Mutation	SNP	C	C	T	rs148916767		TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr1:25883750C>T	ENST00000374338.4	+	4	570	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	151	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)	p.R151G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACCAAGCGGAAGATGGT	0.637																																																1	Substitution - Missense(1)	endometrium(1)	1						C	TRP/ARG	0,4406		0,0,2203	74	57	63		451	4.8	1	1	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LDLRAP1	NM_015627.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	151/309	25883750	2,13004	2203	4300	6503	25756337	SO:0001583	missense	26119			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.451C>T	1.37:g.25883750C>T	ENSP00000363458:p.Arg151Trp		25756337	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	37	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957474	0.73902	0.0	2.33E-4	ENSG00000157978	ENST00000374338	T	0.57595	0.39	5.74	4.8	0.61643	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.047109	0.85682	D	0.000000	T	0.72755	0.3500	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.76149	-0.3065	10	0.72032	D	0.01	-28.2006	14.4288	0.67236	0.259:0.741:0.0:0.0	.	151	Q5SW96	ARH_HUMAN	W	151	ENSP00000363458:R151W	ENSP00000363458:R151W	R	+	1	2	LDLRAP1	25756337	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	1.689000	0.37700	2.717000	0.92951	0.655000	0.94253	CGG		0.637	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		T	25883750	C	T	25883750	3	4	353	1	0	0	0	0	1	0	0	0	8708	759	27	1	465	1	LDLRAP1	1	25883750	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09		25883750	223366871	1	19234											
CPT2	1376	genome.wustl.edu	37	1	53679044	53679044	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr1:53679044A>G	ENST00000371486.3	+	5	2269	c.1754A>G	c.(1753-1755)aAt>aGt	p.N585S	C1orf123_ENST00000470385.1_5'Flank|RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	585					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ATAAACCACAATGTCCTGTCC	0.552																																																0			1											150	136	141					1																	53679044		2203	4300	6503	53451632	SO:0001583	missense	1376			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1754A>G	1.37:g.53679044A>G	ENSP00000360541:p.Asn585Ser		53451632	B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	CCDS575.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994531	0.54041	.	.	ENSG00000157184	ENST00000371486	D	0.96491	-4.03	5.9	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.96411	0.8829	L	0.59436	1.845	0.58432	D	0.999998	P	0.51537	0.946	P	0.58013	0.831	D	0.94408	0.7629	10	0.22109	T	0.4	-17.3929	12.3613	0.55205	0.8735:0.0:0.0:0.1265	.	585	P23786	CPT2_HUMAN	S	585	ENSP00000360541:N585S	ENSP00000360541:N585S	N	+	2	0	CPT2	53451632	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.394000	0.79862	1.020000	0.39573	0.528000	0.53228	AAT		0.552	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		G	53679044	A	G	53679044	3	3	353	1	0	0	0	0	1	0	0	0	3834	101	4	4	1772	4	CPT2	1	53679044	Missense_Mutation	SNP	A	TCGA-29-1783-01A-01W-0633-09	27795294	53679044	195571577	2	19235											
ABCA4	24	genome.wustl.edu	37	1	94487457	94487457	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr1:94487457C>T	ENST00000370225.3	-	33	4804	c.4718G>A	c.(4717-4719)gGg>gAg	p.G1573E		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1573					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGTGCTTCCCCCGTGATGGG	0.498																																																0			1											69	71	70					1																	94487457		2203	4300	6503	94260045	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4718G>A	1.37:g.94487457C>T	ENSP00000359245:p.Gly1573Glu		94260045	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	9.406	1.079315	0.20227	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.90133	-2.62	6.16	4.23	0.50019	.	0.239347	0.43260	D	0.000588	D	0.84561	0.5499	M	0.63843	1.955	0.80722	D	1	B	0.15930	0.015	B	0.12837	0.008	T	0.80006	-0.1563	10	0.46703	T	0.11	.	16.8057	0.85626	0.0:0.7569:0.2431:0.0	.	1573	P78363	ABCA4_HUMAN	E	365;1573	ENSP00000359245:G1573E	ENSP00000359245:G1573E	G	-	2	0	ABCA4	94260045	0.007000	0.16637	0.677000	0.29947	0.017000	0.09413	0.435000	0.21510	0.861000	0.35504	0.650000	0.86243	GGG		0.498	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94487457	C	T	94487457	3	4	353	1	0	0	0	0	1	0	0	0	34	623	22	2	2175	2	ABCA4	1	94487457	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	40808413	94487457	154763164	3	19236											
KCND3	3752	genome.wustl.edu	37	1	112525240	112525240	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr1:112525240G>A	ENST00000315987.2	-	2	588	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	KCND3_ENST00000302127.4_Missense_Mutation_p.R37W|KCND3_ENST00000369697.1_Missense_Mutation_p.R37W	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	37					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCATCCTGCCGCTTGTTCTTG	0.682																																																0			1											45	45	45					1																	112525240		2203	4300	6503	112326763	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.109C>T	1.37:g.112525240G>A	ENSP00000319591:p.Arg37Trp		112326763	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813787	0.50527	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97066	-4.23;-4.23;-4.23	5.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	M	0.66939	2.045	0.58432	D	0.999995	P;D	0.55172	0.939;0.97	P;P	0.47528	0.549;0.549	D	0.96149	0.9106	10	0.72032	D	0.01	.	14.9326	0.70929	0.0:0.0:0.786:0.214	.	37;37	Q14D71;Q9UK17	.;KCND3_HUMAN	W	37	ENSP00000358711:R37W;ENSP00000319591:R37W;ENSP00000306923:R37W	ENSP00000306923:R37W	R	-	1	2	KCND3	112326763	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.597000	0.36729	2.542000	0.85734	0.561000	0.74099	CGG		0.682	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		A	112525240	G	A	112525240	3	1	353	1	0	0	0	0	1	0	0	0	8020	1086	38	1	1886	1	KCND3	1	112525240	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	18037783	112525240	136725381	4	19237											
ROCK2	9475	genome.wustl.edu	37	2	11356295	11356295	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr2:11356295G>C	ENST00000315872.6	-	13	1898	c.1450C>G	c.(1450-1452)Cta>Gta	p.L484V	ROCK2_ENST00000401753.1_Missense_Mutation_p.L241V	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	484	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCCTCTTCTAGCTCCTTTGCT	0.313																																																0			2											93	89	90					2																	11356295		1799	4067	5866	11273746	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1450C>G	2.37:g.11356295G>C	ENSP00000317985:p.Leu484Val		11273746	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701617	0.68501	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	D;D	0.84660	-1.88;-1.88	5.67	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.89276	0.6669	M	0.66939	2.045	0.54753	D	0.999984	D	0.60575	0.988	P	0.62184	0.899	D	0.88666	0.3192	10	0.66056	D	0.02	.	10.5627	0.45154	0.2075:0.0:0.7925:0.0	.	484	O75116	ROCK2_HUMAN	V	484;241	ENSP00000317985:L484V;ENSP00000385509:L241V	ENSP00000317985:L484V	L	-	1	2	ROCK2	11273746	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	3.823000	0.55715	0.764000	0.33197	0.591000	0.81541	CTA		0.313	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			C	11356295	G	C	11356295	3	2	353	1	0	0	0	0	1	0	0	0	13521	962	34	3	2800	3	ROCK2	2	11356295	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09		11356295	231843078	5	19238											
RFTN2	130132	genome.wustl.edu	37	2	198540075	198540075	+	Silent	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr2:198540075G>A	ENST00000295049.4	-	1	644	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	36					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATACATATTCGTAAGCAAATT	0.368																																																0			2											139	145	143					2																	198540075		2203	4300	6503	198248320	SO:0001819	synonymous_variant	130132			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.108C>T	2.37:g.198540075G>A			198248320	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	ENST00000295049.4	37	CCDS2323.1																																																																																				0.368	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		A	198540075	G	A	198540075	2	1	353	1	0	0	0	0	0	0	0	1	13262	1140	40	1		1	RFTN2	2	198540075	Silent	SNP	G	TCGA-29-1783-01A-01W-0633-09	187183780	198540075	44659298	6	19239											
GIGYF2	26058	genome.wustl.edu	37	2	233684567	233684567	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr2:233684567G>A	ENST00000409547.1	+	23	2712	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	GIGYF2_ENST00000373566.3_Missense_Mutation_p.E823K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E822K|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E801K|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E632K|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E795K|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E823K	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	801	Gln-rich.|Glu-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCGGGAGCAAGAAATTGCATT	0.493																																																0			2											58	62	61					2																	233684567		2203	4300	6503	233392811	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2401G>A	2.37:g.233684567G>A	ENSP00000386537:p.Glu801Lys		233392811	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649112	0.67358	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T	0.76060	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.99	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	L	0.41824	1.3	0.58432	D	0.999994	D;D;D;D	0.67145	0.996;0.993;0.993;0.993	D;D;D;D	0.76071	0.987;0.971;0.971;0.971	T	0.74121	-0.3767	10	0.13853	T	0.58	-15.4232	16.5658	0.84599	0.0:0.0:1.0:0.0	.	632;822;801;795	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	K	823;801;823;801;795;822;795;632	ENSP00000362667:E823K;ENSP00000362664:E801K;ENSP00000386765:E823K;ENSP00000386537:E801K;ENSP00000387070:E795K;ENSP00000387170:E822K;ENSP00000410297:E795K;ENSP00000411505:E632K	ENSP00000362664:E801K	E	+	1	0	GIGYF2	233392811	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	7.817000	0.86213	2.333000	0.79357	0.462000	0.41574	GAA		0.493	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		A	233684567	G	A	233684567	3	1	353	1	0	0	0	0	1	0	0	0	6378	943	33	2	2545	2	GIGYF2	2	233684567	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	35144492	233684567	9514806	7	19240											
PRR21	643905	genome.wustl.edu	37	2	240982243	240982243	+	Missense_Mutation	SNP	G	G	A	rs80033040	byFrequency	TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr2:240982243G>A	ENST00000408934.1	-	1	156	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	53	Pro-rich.							p.R53W(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGCCGTGGATGAAGG	0.582																																																2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	2											121	107	112					2																	240982243		2203	4300	6503	240630916	SO:0001583	missense	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.157C>T	2.37:g.240982243G>A	ENSP00000386166:p.Arg53Trp		240630916		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	N	7.137	0.581093	0.13686	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13657	2.57;2.57	1.19	-1.7	0.08159	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	9	0.56958	D	0.05	.	2.7336	0.05234	0.2267:0.299:0.4742:0.0	.	53	Q8WXC7	PRR21_HUMAN	W	53	ENSP00000386166:R53W;ENSP00000418240:R53W	ENSP00000386166:R53W	R	-	1	2	PRR21	240630916	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-0.428000	0.07339	-0.481000	0.04817	CGG		0.582	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		A	240982243	G	A	240982243	3	1	353	1	0	0	0	0	1	0	0	0	12595	1144	40	1	1015	1	PRR21	2	240982243	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	7297676	240982243	2217130	8	19241											
LRRC2	79442	genome.wustl.edu	37	3	46586715	46586715	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr3:46586715C>A	ENST00000395905.3	-	3	546	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	LRRC2_ENST00000496388.1_5'UTR|LRRC2_ENST00000296144.3_Nonsense_Mutation_p.E52*	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	52								p.E52K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTCCTGCATTCGGCCACAAAG	0.532																																																1	Substitution - Missense(1)	large_intestine(1)	3											80	79	80					3																	46586715		2203	4300	6503	46561719	SO:0001587	stop_gained	79442			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.154G>T	3.37:g.46586715C>A	ENSP00000379241:p.Glu52*		46561719	B2RDQ7|Q96LT5	Nonsense_Mutation	SNP	ENST00000395905.3	37	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069712	0.93950	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.762	0.85514	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	ENSP00000296144:E52X	E	-	1	0	LRRC2	46561719	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.958000	0.63660	2.635000	0.89317	0.655000	0.94253	GAA		0.532	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			A	46586715	C	A	46586715	4	1	353	1	0	0	0	0	0	1	0	0	8976	893	31	3	989	3	LRRC2	3	46586715	Nonsense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09		46586715	151435715	9	19242											
SCAP	22937	genome.wustl.edu	37	3	47455532	47455532	+	Missense_Mutation	SNP	C	C	T	rs201494816		TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr3:47455532C>T	ENST00000265565.5	-	23	4064	c.3652G>A	c.(3652-3654)Ggc>Agc	p.G1218S	SCAP_ENST00000441517.2_Missense_Mutation_p.G962S|SCAP_ENST00000545718.1_Missense_Mutation_p.G825S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1218	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAGCCCTGGCCGCCAGTCACC	0.587													C|||	1	0.000199681	0	0	5008	,	,		18678	0		0.001	False		,,,				2504	0				Pancreas(149;978 1908 29304 37806 46700)											0			3						C	SER/GLY	0,4406		0,0,2203	62	69	67		3652	5.2	1	3		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCAP	NM_012235.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1218/1280	47455532	1,13005	2203	4300	6503	47430536	SO:0001583	missense	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3652G>A	3.37:g.47455532C>T	ENSP00000265565:p.Gly1218Ser		47430536	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	33	5.238790	0.95240	0.0	1.16E-4	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.34275	1.66;2.33;1.37	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.97110	1.0;0.659	T	0.44832	-0.9302	10	0.35671	T	0.21	-35.0093	18.531	0.90992	0.0:1.0:0.0:0.0	.	962;1218	F8W921;Q12770	.;SCAP_HUMAN	S	710;844;1218;962;825	ENSP00000265565:G1218S;ENSP00000416847:G962S;ENSP00000438956:G825S	ENSP00000265565:G1218S	G	-	1	0	SCAP	47430536	1.000000	0.71417	0.981000	0.43875	0.926000	0.56050	7.296000	0.78790	2.706000	0.92434	0.655000	0.94253	GGC		0.587	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		T	47455532	C	T	47455532	3	4	353	1	0	0	0	0	1	0	0	0	13880	652	23	1	191	1	SCAP	3	47455532	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	868817	47455532	150566898	10	19243											
ROBO1	6091	genome.wustl.edu	37	3	78676638	78676638	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr3:78676638T>G	ENST00000464233.1	-	26	3821	c.3708A>C	c.(3706-3708)gaA>gaC	p.E1236D	ROBO1_ENST00000495273.1_Missense_Mutation_p.E1191D|ROBO1_ENST00000467549.1_Missense_Mutation_p.E1136D|ROBO1_ENST00000436010.2_Missense_Mutation_p.E1197D	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1236					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.E1236E(1)|p.E1213E(1)|p.E1191E(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGGCCTCGTTCATCTTCCT	0.512																																																3	Substitution - coding silent(3)	large_intestine(3)	3											77	93	87					3																	78676638		2075	4210	6285	78759328	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3708A>C	3.37:g.78676638T>G	ENSP00000420321:p.Glu1236Asp		78759328	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.47|16.47	3.132918|3.132918	0.56828|0.56828	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414|ENST00000472273	T;T;T;T|.	0.64085|.	0.02;-0.0;0.01;-0.08|.	5.29|5.29	1.57|1.57	0.23409|0.23409	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51618|0.51618	0.1685|0.1685	L|L	0.39245|0.39245	1.2|1.2	0.42882|0.42882	D|D	0.994171|0.994171	D;B;D;D;D|.	0.71674|.	0.99;0.11;0.998;0.988;0.97|.	D;B;D;P;P|.	0.74674|.	0.98;0.068;0.984;0.621;0.839|.	T|T	0.35724|0.35724	-0.9777|-0.9777	9|5	.|.	.|.	.|.	.|.	9.2082|9.2082	0.37302|0.37302	0.0:0.308:0.0:0.692|0.0:0.308:0.0:0.692	.|.	1200;1236;1191;1136;1197|.	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4|.	.;ROBO1_HUMAN;.;.;.|.	D|T	1197;1191;1236;1191;1136;1240|163	ENSP00000406043:E1197D;ENSP00000420321:E1236D;ENSP00000420637:E1191D;ENSP00000417992:E1136D|.	.|.	E|N	-|-	3|2	2|0	ROBO1|ROBO1	78759328|78759328	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.924000|0.924000	0.55760|0.55760	0.833000|0.833000	0.27504|0.27504	0.091000|0.091000	0.17302|0.17302	0.459000|0.459000	0.35465|0.35465	GAA|AAC		0.512	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		G	78676638	T	G	78676638	3	3	353	1	0	0	0	0	1	0	0	0	13516	1722	60	5	1271	5	ROBO1	3	78676638	Missense_Mutation	SNP	T	TCGA-29-1783-01A-01W-0633-09	31221106	78676638	119345792	11	19244											
TBL1XR1	79718	genome.wustl.edu	37	3	176767863	176767881	+	Frame_Shift_Del	DEL	CTGTGTAGAGCCACTGGTG	CTGTGTAGAGCCACTGGTG	-	rs561869177		TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	CTGTGTAGAGCCACTGGTG	CTGTGTAGAGCCACTGGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr3:176767863_176767881delCTGTGTAGAGCCACTGGTG	ENST00000430069.1	-	7	865_883	c.606_624delCACCAGTGGCTCTACACAG	c.(604-624)agcaccagtggctctacacagfs	p.STSGSTQ202fs	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Frame_Shift_Del_p.STSGSTQ202fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	202					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TAAGTACTAACTGTGTAGAGCCACTGGTGCTGTTCTCAC	0.393																																																0			3																																								178250575	SO:0001589	frameshift_variant	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.606_624delCACCAGTGGCTCTACACAG	3.37:g.176767863_176767881delCTGTGTAGAGCCACTGGTG	ENSP00000405574:p.Ser202fs		178250557	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Frame_Shift_Del	DEL	ENST00000430069.1	37	CCDS46961.1																																																																																				0.393	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		-	176767881	CTGTGTAGAGCCACTGGTG	-	176767863	7	5	353	1	0	1	0	1	0	0	0	0	15640	564	20	0	960	0	TBL1XR1	3	176767863	Frame_Shift_Del	DEL	CTGTGTAGAGCCACTGGTG	TCGA-29-1783-01A-01W-0633-09	98091225	176767863	21254567	12	19245											
TMPRSS11A	339967	genome.wustl.edu	37	4	68797727	68797727	+	Missense_Mutation	SNP	G	G	T	rs370242991		TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr4:68797727G>T	ENST00000334830.7	-	4	1059	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.Q102K|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.Q101K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	105	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CTGACTACTTGGTTCTTGATA	0.358																																					NSCLC(26;2 894 10941 14480 22546)											0			4											148	144	145					4																	68797727		2203	4300	6503	68480322	SO:0001583	missense	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.313C>A	4.37:g.68797727G>T	ENSP00000334611:p.Gln105Lys		68480322	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061027	0.19987	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	6.08	5.24	0.73138	SEA (1);	1.193730	0.05995	N	0.646698	T	0.47600	0.1454	M	0.65975	2.015	0.22873	N	0.998626	B;B	0.30146	0.27;0.27	B;B	0.28232	0.087;0.087	T	0.44757	-0.9307	10	0.49607	T	0.09	.	12.8253	0.57716	0.0:0.0:0.8368:0.1632	.	102;105	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	K	101;105;102;82	ENSP00000426911:Q101K;ENSP00000334611:Q105K;ENSP00000379491:Q102K;ENSP00000427621:Q82K	ENSP00000334611:Q105K	Q	-	1	0	TMPRSS11A	68480322	0.991000	0.36638	0.681000	0.30009	0.164000	0.22412	1.595000	0.36708	1.565000	0.49641	0.655000	0.94253	CAA		0.358	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		T	68797727	G	T	68797727	3	4	353	1	0	0	0	0	1	0	0	0	16239	1357	47	3	980	3	TMPRSS11A	4	68797727	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09		68797727	122356549	13	19246											
RAPGEF2	9693	genome.wustl.edu	37	4	160264453	160264453	+	Missense_Mutation	SNP	G	G	A	rs377126972		TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr4:160264453G>A	ENST00000264431.4	+	16	3087	c.2668G>A	c.(2668-2670)Ggg>Agg	p.G890R		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	890	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAAGTAGACGGGCTGGTCAA	0.448																																																0			4						G	ARG/GLY	1,3739		0,1,1869	105	102	103		2668	5	0.9	4		103	0,8200		0,0,4100	no	missense	RAPGEF2	NM_014247.2	125	0,1,5969	AA,AG,GG		0.0,0.0267,0.0084	probably-damaging	890/1500	160264453	1,11939	1870	4100	5970	160483903	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2668G>A	4.37:g.160264453G>A	ENSP00000264431:p.Gly890Arg		160483903	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.758197|4.758197	0.89843|0.89843	2.67E-4|2.67E-4	0.0|0.0	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000502485	T|.	0.37584|.	1.19|.	5.82|5.82	4.98|4.98	0.66077|0.66077	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79088|0.79088	0.4387|0.4387	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.82153|0.82153	-0.0598|-0.0598	10|5	0.87932|.	D|.	0|.	.|.	14.8636|14.8636	0.70399|0.70399	0.0687:0.0:0.9313:0.0|0.0687:0.0:0.9313:0.0	.|.	890|.	Q9Y4G8|.	RPGF2_HUMAN|.	R|Q	890|3	ENSP00000264431:G890R|.	ENSP00000264431:G890R|.	G|R	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160483903|160483903	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.980000|0.980000	0.70556|0.70556	9.864000|9.864000	0.99589|0.99589	1.466000|1.466000	0.48025|0.48025	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.448	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		A	160264453	G	A	160264453	3	1	353	1	0	0	0	0	1	0	0	0	13047	1116	39	1	2730	1	RAPGEF2	4	160264453	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	91466726	160264453	30889823	14	19247											
ACTBL2	345651	genome.wustl.edu	37	5	56777754	56777754	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr5:56777754C>G	ENST00000423391.1	-	1	882	c.781G>C	c.(781-783)Gcc>Ccc	p.A261P	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	261						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TGGAAAATGGCTTCAGGGCAT	0.522																																																0			5											91	85	87					5																	56777754		2203	4300	6503	56813511	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.781G>C	5.37:g.56777754C>G	ENSP00000416706:p.Ala261Pro		56813511	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205992	0.39003	.	.	ENSG00000169067	ENST00000423391	D	0.94828	-3.53	4.91	3.0	0.34707	.	0.081933	0.46758	D	0.000266	D	0.95924	0.8673	M	0.69185	2.1	0.40357	D	0.979205	P	0.46578	0.88	P	0.62560	0.904	D	0.96151	0.9108	10	0.87932	D	0	.	11.7883	0.52055	0.333:0.667:0.0:0.0	.	261	Q562R1	ACTBL_HUMAN	P	261	ENSP00000416706:A261P	ENSP00000416706:A261P	A	-	1	0	ACTBL2	56813511	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.937000	0.28951	1.244000	0.43870	0.655000	0.94253	GCC		0.522	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		G	56777754	C	G	56777754	3	3	353	1	0	0	0	0	1	0	0	0	194	797	28	3	353	3	ACTBL2	5	56777754	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09		56777754	124137506	15	19248											
GRM1	2911	genome.wustl.edu	37	6	146625901	146625901	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr6:146625901C>G	ENST00000282753.1	+	3	1340	c.1105C>G	c.(1105-1107)Cct>Gct	p.P369A	GRM1_ENST00000355289.4_Missense_Mutation_p.P369A|GRM1_ENST00000392299.2_Missense_Mutation_p.P369A|GRM1_ENST00000507907.1_Missense_Mutation_p.P369A|GRM1_ENST00000492807.2_Missense_Mutation_p.P369A|GRM1_ENST00000361719.2_Missense_Mutation_p.P369A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	369					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCCCTGGTTCCCTGAGTTCTG	0.483																																																0			6											129	112	118					6																	146625901		2203	4300	6503	146667594	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1105C>G	6.37:g.146625901C>G	ENSP00000282753:p.Pro369Ala		146667594	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	4.498	0.092288	0.08632	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.055231	0.64402	D	0.000001	T	0.49133	0.1539	N	0.01446	-0.86	0.54753	D	0.999982	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.14578	0.002;0.011;0.005	T	0.55598	-0.8116	10	0.10636	T	0.68	.	15.3675	0.74535	0.1394:0.8606:0.0:0.0	.	369;369;369	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	A	369	ENSP00000354896:P369A;ENSP00000376119:P369A;ENSP00000424095:P369A;ENSP00000282753:P369A;ENSP00000347437:P369A;ENSP00000425599:P369A	ENSP00000282753:P369A	P	+	1	0	GRM1	146667594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.642000	0.54367	2.880000	0.98712	0.650000	0.86243	CCT		0.483	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		G	146625901	C	G	146625901	3	3	353	1	0	0	0	0	1	0	0	0	6796	623	22	3	1115	3	GRM1	6	146625901	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09		146625901	24489166	16	19249											
RPS6KA2	6196	genome.wustl.edu	37	6	166833417	166833417	+	Silent	SNP	C	C	T	rs55690286		TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr6:166833417C>T	ENST00000265678.4	-	18	1996	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	RPS6KA2_ENST00000510118.1_Silent_p.A616A|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.A599A|RPS6KA2_ENST00000405189.3_Silent_p.A502A|RPS6KA2_ENST00000481261.2_Silent_p.A502A	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	591	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		AGATGTCACACGCCGCATCAT	0.557																																																0			6						C	,	0,4406		0,0,2203	189	126	147		1797,1773	-6.5	0.5	6	dbSNP_129	147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	599/742,591/734	166833417	1,13005	2203	4300	6503	166753407	SO:0001819	synonymous_variant	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1773G>A	6.37:g.166833417C>T			166753407	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	CCDS5294.1																																																																																				0.557	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		T	166833417	C	T	166833417	2	4	353	1	0	0	0	0	0	0	0	1	13654	523	19	1		1	RPS6KA2	6	166833417	Silent	SNP	C	TCGA-29-1783-01A-01W-0633-09	20207516	166833417	4281650	17	19250											
RNF148	378925	genome.wustl.edu	37	7	122342021	122342021	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr7:122342021A>T	ENST00000434824.1	-	1	1000	c.784T>A	c.(784-786)Ttt>Att	p.F262I	RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF133_ENST00000340112.2_5'Flank|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	262						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATGTGTCAAAGCAAACAACA	0.408																																																0			7											135	126	128					7																	122342021		1906	4131	6037	122129257	SO:0001583	missense	378925			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.784T>A	7.37:g.122342021A>T	ENSP00000388207:p.Phe262Ile		122129257	A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	A	3.420	-0.118432	0.06838	.	.	ENSG00000235631	ENST00000434824	T	0.42131	0.98	5.51	5.51	0.81932	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	.	.	.	.	T	0.27098	0.0664	N	0.13098	0.295	0.80722	D	1	B	0.16166	0.016	B	0.31101	0.124	T	0.12426	-1.0548	9	0.12766	T	0.61	.	10.7781	0.46361	0.924:0.0:0.076:0.0	.	262	Q8N7C7	RN148_HUMAN	I	262	ENSP00000388207:F262I	ENSP00000388207:F262I	F	-	1	0	RNF148	122129257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.109000	0.41863	2.086000	0.62901	0.533000	0.62120	TTT		0.408	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		T	122342021	A	T	122342021	3	4	353	1	0	0	0	0	1	0	0	0	13452	72	3	5	137	5	RNF148	7	122342021	Missense_Mutation	SNP	A	TCGA-29-1783-01A-01W-0633-09		122342021	36796642	18	19251											
GRM8	2918	genome.wustl.edu	37	7	126746621	126746621	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr7:126746621G>A	ENST00000339582.2	-	3	1464	c.656C>T	c.(655-657)tCg>tTg	p.S219L	GRM8_ENST00000405249.1_Missense_Mutation_p.S219L|GRM8_ENST00000358373.3_Missense_Mutation_p.S219L|GRM8_ENST00000444921.2_Missense_Mutation_p.S219L|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	219					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)	p.S219L(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGCCAGTGTCGAAACATAATT	0.493										HNSCC(24;0.065)																																						2	Substitution - Missense(2)	endometrium(2)	7											141	122	129					7																	126746621		2203	4300	6503	126533857	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.656C>T	7.37:g.126746621G>A	ENSP00000344173:p.Ser219Leu		126533857	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384331	0.82792	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.93861	0.8036	H	0.95079	3.62	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.956	D	0.95641	0.8698	10	0.87932	D	0	.	17.5651	0.87917	0.0:0.0:1.0:0.0	.	219;219	O00222-2;O00222	.;GRM8_HUMAN	L	219;219;219;219;219;29	ENSP00000344173:S219L;ENSP00000409790:S219L;ENSP00000351142:S219L;ENSP00000385731:S219L;ENSP00000415522:S219L;ENSP00000418255:S29L	ENSP00000344173:S219L	S	-	2	0	GRM8	126533857	1.000000	0.71417	0.946000	0.38457	0.542000	0.35054	8.018000	0.88722	2.386000	0.81285	0.563000	0.77884	TCG		0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126746621	G	A	126746621	3	1	353	1	0	0	0	0	1	0	0	0	6803	1059	37	1	2156	1	GRM8	7	126746621	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	4404600	126746621	32392042	19	19252											
FLNC	2318	genome.wustl.edu	37	7	128477557	128477557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr7:128477557C>T	ENST00000325888.8	+	4	1066	c.805C>T	c.(805-807)Cga>Tga	p.R269*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.R269*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	269					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCCCCTGTTCGATCCAAGCA	0.597																																																0			7											126	137	133					7																	128477557		2166	4295	6461	128264793	SO:0001587	stop_gained	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.805C>T	7.37:g.128477557C>T	ENSP00000327145:p.Arg269*		128264793	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Nonsense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	39	7.720959	0.98453	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3587	0.60644	0.1679:0.8321:0.0:0.0	.	.	.	.	X	269	.	ENSP00000327145:R269X	R	+	1	2	FLNC	128264793	0.008000	0.16893	1.000000	0.80357	0.944000	0.59088	0.757000	0.26433	2.431000	0.82371	0.655000	0.94253	CGA		0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128477557	C	T	128477557	4	4	353	1	0	0	0	0	0	1	0	0	5935	876	31	1	819	1	FLNC	7	128477557	Nonsense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	1730936	128477557	30661106	20	19253											
RPL30	6156	genome.wustl.edu	37	8	99057245	99057245	+	Nonsense_Mutation	SNP	G	G	C			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr8:99057245G>C	ENST00000521291.1	-	2	239	c.93C>G	c.(91-93)taC>taG	p.Y31*	RPL30_ENST00000287038.3_Nonsense_Mutation_p.Y31*|SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000518164.1_5'UTR|RPL30_ENST00000523172.1_Intron|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000396070.2_Nonsense_Mutation_p.Y31*			P62888	RL30_HUMAN	ribosomal protein L30	31					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			GAGTCTGCTTGTACCCCAGGA	0.458																																																0			8											171	156	161					8																	99057245		2203	4300	6503	99126421	SO:0001587	stop_gained	6156				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"L ribosomal proteins"	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.93C>G	8.37:g.99057245G>C	ENSP00000428085:p.Tyr31*		99126421	B2R591|P04645|Q502Z6	Nonsense_Mutation	SNP	ENST00000521291.1	37	CCDS34928.1	.	.	.	.	.	.	.	.	.	.	G	37	6.296308	0.97453	.	.	ENSG00000156482	ENST00000521291;ENST00000396070;ENST00000287038;ENST00000521726	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4214	16.9749	0.86310	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000287038:Y31X	Y	-	3	2	RPL30	99126421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.420000	0.73349	2.440000	0.82611	0.655000	0.94253	TAC		0.458	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380450.1			C	99057245	G	C	99057245	4	2	353	1	0	0	0	0	0	1	0	0	13583	1372	48	3	266	3	RPL30	8	99057245	Nonsense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09		99057245	47306777	21	19254											
PKHD1L1	93035	genome.wustl.edu	37	8	110476896	110476896	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr8:110476896T>A	ENST00000378402.5	+	49	7939	c.7835T>A	c.(7834-7836)tTt>tAt	p.F2612Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2612					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCGAATTTTTTAACAATACT	0.443										HNSCC(38;0.096)																																						0			8											107	107	107					8																	110476896		1860	4103	5963	110546072	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7835T>A	8.37:g.110476896T>A	ENSP00000367655:p.Phe2612Tyr		110546072	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	7.072	0.568498	0.13560	.	.	ENSG00000205038	ENST00000378402	T	0.80214	-1.35	5.79	3.23	0.37069	Pectin lyase fold/virulence factor (1);	0.272597	0.35772	N	0.003000	T	0.46502	0.1396	N	0.00894	-1.105	0.24812	N	0.992634	B	0.02656	0.0	B	0.04013	0.001	T	0.44544	-0.9321	10	0.02654	T	1	.	8.6196	0.33853	0.4247:0.0:0.0:0.5753	.	2612	Q86WI1	PKHL1_HUMAN	Y	2612	ENSP00000367655:F2612Y	ENSP00000367655:F2612Y	F	+	2	0	PKHD1L1	110546072	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	0.231000	0.17872	0.976000	0.38417	0.533000	0.62120	TTT		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110476896	T	A	110476896	3	1	353	1	0	0	0	0	1	0	0	0	11972	1841	64	5	8029	5	PKHD1L1	8	110476896	Missense_Mutation	SNP	T	TCGA-29-1783-01A-01W-0633-09	11419651	110476896	35887126	22	19255											
GSN	2934	genome.wustl.edu	37	9	124073039	124073039	+	Silent	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr9:124073039G>A	ENST00000373818.4	+	4	651	c.582G>A	c.(580-582)ggG>ggA	p.G194G	GSN_ENST00000449733.1_Silent_p.G143G|GSN_ENST00000412819.1_Silent_p.G143G|GSN_ENST00000373807.1_5'Flank|GSN_ENST00000394353.2_Silent_p.G154G|GSN_ENST00000545652.1_Silent_p.G151G|GSN_ENST00000341272.2_Silent_p.G143G|GSN_ENST00000373823.3_Silent_p.G143G|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373808.2_Silent_p.G143G|GSN_ENST00000436847.1_Silent_p.G154G	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	194	Polyphosphoinositide binding. {ECO:0000250}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGTCAAAGGGCGGCGTGTGG	0.582																																																0			9											208	147	167					9																	124073039		2203	4300	6503	123112860	SO:0001819	synonymous_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.582G>A	9.37:g.124073039G>A			123112860	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	CCDS6828.1																																																																																				0.582	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		A	124073039	G	A	124073039	2	1	353	1	0	0	0	0	0	0	0	1	6825	1190	42	2		2	GSN	9	124073039	Silent	SNP	G	TCGA-29-1783-01A-01W-0633-09		124073039	17140392	23	19256											
ANUBL1	93550	genome.wustl.edu	37	10	46135330	46135330	+	Silent	SNP	A	A	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr10:46135330A>G	ENST00000344646.5	-	6	866	c.651T>C	c.(649-651)aaT>aaC	p.N217N	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Silent_p.N143N|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	217							zinc ion binding (GO:0008270)										TAGTTATTGAATTTTCAATTA	0.373																																																0			10											144	138	140					10																	46135330		2203	4300	6503	45455336	SO:0001819	synonymous_variant	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.651T>C	10.37:g.46135330A>G			45455336	A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	ENST00000344646.5	37	CCDS7214.1																																																																																				0.373	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		G	46135330	A	G	46135330	2	3	353	1	0	0	0	0	0	0	0	1	713	98	4	4		4	ANUBL1	10	46135330	Silent	SNP	A	TCGA-29-1783-01A-01W-0633-09		46135330	89399417	24	19257											
ASAH2	56624	genome.wustl.edu	37	10	52002997	52002997	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr10:52002997C>T	ENST00000395526.4	-	3	474	c.475G>A	c.(475-477)Gac>Aac	p.D159N	ASAH2_ENST00000443575.1_5'Flank|ASAH2_ENST00000329428.6_Missense_Mutation_p.D140N|ASAH2_ENST00000447815.1_Missense_Mutation_p.D159N	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	159					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						ATGCCTATGTCGATGCTGACA	0.468																																																0			10											260	222	235					10																	52002997		2203	4300	6503	51673003	SO:0001583	missense	56624			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.475G>A	10.37:g.52002997C>T	ENSP00000378897:p.Asp159Asn		51673003	Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	C	35	5.456592	0.96223	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.61627	0.09;0.09;0.09	5.82	5.82	0.92795	.	0.131088	0.64402	D	0.000018	T	0.79793	0.4507	H	0.95712	3.71	0.80722	D	1	P;P	0.47191	0.833;0.891	B;P	0.53006	0.33;0.715	D	0.85208	0.1019	10	0.72032	D	0.01	.	17.5905	0.87994	0.0:1.0:0.0:0.0	.	159;159	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	N	159;159;140	ENSP00000378897:D159N;ENSP00000388206:D159N;ENSP00000329886:D140N	ENSP00000329886:D140N	D	-	1	0	ASAH2	51673003	1.000000	0.71417	0.916000	0.36221	0.797000	0.45037	7.167000	0.77562	2.753000	0.94483	0.557000	0.71058	GAC		0.468	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		T	52002997	C	T	52002997	3	4	353	1	0	0	0	0	1	0	0	0	1007	884	31	1	1939	1	ASAH2	10	52002997	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	5867667	52002997	83531750	25	19258											
KIAA0913	23053	genome.wustl.edu	37	10	75557657	75557657	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr10:75557657A>T	ENST00000605216.1	+	19	3983	c.3766A>T	c.(3766-3768)Agc>Tgc	p.S1256C	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S1261C|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1256C|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1261C|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S1223C|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1256							zinc ion binding (GO:0008270)										AGGGGGCAACAGCAGCACTTC	0.567																																																0			10											112	123	119					10																	75557657		2115	4221	6336	75227663	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3766A>T	10.37:g.75557657A>T	ENSP00000474748:p.Ser1256Cys		75227663	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.40|18.40	3.616059|3.616059	0.66672|0.66672	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000398706	.|T	.|0.53857	.|0.6	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.305311	.|0.30890	.|U	.|0.008666	T|T	0.73505|0.73505	0.3595|0.3595	M|M	0.79123|0.79123	2.44|2.44	0.49130|0.49130	D|D	0.999758|0.999758	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999	.|D;D;D;D	.|0.81914	.|0.993;0.995;0.995;0.993	T|T	0.77330|0.77330	-0.2628|-0.2628	5|10	.|0.87932	.|D	.|0	-6.3461|-6.3461	16.0343|16.0343	0.80612|0.80612	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1256;1268;1256;1261	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	L|C	971|1261	.|ENSP00000381693:S1261C	.|ENSP00000381693:S1261C	Q|S	+|+	2|1	0|0	KIAA0913|KIAA0913	75227663|75227663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.671000|6.671000	0.74472|0.74472	2.198000|2.198000	0.70561|0.70561	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.567	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		T	75557657	A	T	75557657	3	4	353	1	0	0	0	0	1	0	0	0	8200	188	7	5	3855	5	KIAA0913	10	75557657	Missense_Mutation	SNP	A	TCGA-29-1783-01A-01W-0633-09	23554660	75557657	59977090	26	19259											
ATRNL1	26033	genome.wustl.edu	37	10	117026367	117026367	+	Silent	SNP	A	A	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr10:117026367A>G	ENST00000355044.3	+	12	1992	c.1866A>G	c.(1864-1866)gaA>gaG	p.E622E		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	622	PSI 1.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAGATGAAGAACTTTGTAAAA	0.343																																																0			10											97	108	104					10																	117026367		2203	4300	6503	117016357	SO:0001819	synonymous_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1866A>G	10.37:g.117026367A>G			117016357	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																				0.343	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		G	117026367	A	G	117026367	2	3	353	1	0	0	0	0	0	0	0	1	1207	40	2	4		4	ATRNL1	10	117026367	Silent	SNP	A	TCGA-29-1783-01A-01W-0633-09	41468710	117026367	18508380	27	19260											
TSPAN18	90139	genome.wustl.edu	37	11	44941491	44941491	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr11:44941491G>A	ENST00000520358.2	+	8	971	c.556G>A	c.(556-558)Ggg>Agg	p.G186R	TSPAN18_ENST00000340160.3_Missense_Mutation_p.G186R			Q96SJ8	TSN18_HUMAN	tetraspanin 18	186						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						AAGTCGGGACGGGGTCCTGCT	0.597																																																0			11											79	83	82					11																	44941491		2203	4299	6502	44898067	SO:0001583	missense	90139			AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"Tetraspanins"	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.556G>A	11.37:g.44941491G>A	ENSP00000429993:p.Gly186Arg		44898067	Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	37	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.14|18.14	3.558212|3.558212	0.65538|0.65538	.|.	.|.	ENSG00000157570|ENSG00000157570	ENST00000533080;ENST00000520358;ENST00000340160|ENST00000518429	T;T;T|.	0.78816|.	-1.21;1.53;1.53|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Tetraspanin, EC2 domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.75191|0.75191	0.3816|0.3816	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.994|.	D;P|.	0.69142|.	0.962;0.8|.	T|T	0.74375|0.74375	-0.3686|-0.3686	9|5	0.16420|.	T|.	0.52|.	.|.	18.0206|18.0206	0.89253|0.89253	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	186;186|.	Q8WUV1;Q96SJ8|.	.;TSN18_HUMAN|.	R|Q	121;186;186|189	ENSP00000433362:G121R;ENSP00000429993:G186R;ENSP00000339820:G186R|.	ENSP00000339820:G186R|.	G|R	+|+	1|2	0|0	TSPAN18|TSPAN18	44898067|44898067	0.989000|0.989000	0.36119|0.36119	0.981000|0.981000	0.43875|0.43875	0.976000|0.976000	0.68499|0.68499	2.668000|2.668000	0.46816|0.46816	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.597	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		A	44941491	G	A	44941491	3	1	353	1	0	0	0	0	1	0	0	0	16642	1116	39	1	574	1	TSPAN18	11	44941491	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09		44941491	90065025	28	19261											
CSRNP2	81566	genome.wustl.edu	37	12	51470244	51470244	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr12:51470244C>G	ENST00000228515.1	-	2	398	c.101G>C	c.(100-102)aGt>aCt	p.S34T	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	34					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCTGTCAGCACTATCACTGCT	0.532																																																0			12											183	148	160					12																	51470244		2203	4300	6503	49756511	SO:0001583	missense	81566			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.101G>C	12.37:g.51470244C>G	ENSP00000228515:p.Ser34Thr		49756511		Missense_Mutation	SNP	ENST00000228515.1	37	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316973	0.81469	.	.	ENSG00000110925	ENST00000228515;ENST00000548981;ENST00000552899;ENST00000546935	T;T	0.16196	2.36;2.36	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.50993	1.605	0.58432	D	0.999999	D	0.67145	0.996	D	0.76071	0.987	T	0.01053	-1.1467	10	0.41790	T	0.15	-12.1291	18.5492	0.91057	0.0:1.0:0.0:0.0	.	34	Q9H175	CSRN2_HUMAN	T	34	ENSP00000228515:S34T;ENSP00000447657:S34T	ENSP00000228515:S34T	S	-	2	0	CSRNP2	49756511	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.449000	0.80643	2.760000	0.94817	0.478000	0.44815	AGT		0.532	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			G	51470244	C	G	51470244	3	3	353	1	0	0	0	0	1	0	0	0	3964	565	20	3	1546	3	CSRNP2	12	51470244	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09		51470244	82381651	29	19262											
KRT73	319101	genome.wustl.edu	37	12	53012144	53012144	+	Silent	SNP	C	C	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr12:53012144C>G	ENST00000305748.3	-	1	199	c.165G>C	c.(163-165)cgG>cgC	p.R55R		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	55	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAGAGATGCTCCGGGCACCCC	0.637																																																0			12											63	74	70					12																	53012144		2203	4300	6503	51298411	SO:0001819	synonymous_variant	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.165G>C	12.37:g.53012144C>G			51298411	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																				0.637	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		G	53012144	C	G	53012144	2	3	353	1	0	0	0	0	0	0	0	1	8486	842	30	3		3	KRT73	12	53012144	Silent	SNP	C	TCGA-29-1783-01A-01W-0633-09	1541900	53012144	80839751	30	19263											
MYO1A	4640	genome.wustl.edu	37	12	57436900	57436900	+	Missense_Mutation	SNP	G	G	A	rs145245907		TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr12:57436900G>A	ENST00000442789.2	-	13	1341	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	MYO1A_ENST00000544473.1_Missense_Mutation_p.R190C|MYO1A_ENST00000300119.3_Missense_Mutation_p.R352C	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	352	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCAAAGAGGCGGCTGTAGATG	0.557																																																0			12						G	CYS/ARG	0,4406		0,0,2203	105	94	98		1054	5.2	1	12	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYO1A	NM_005379.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	352/1044	57436900	1,13005	2203	4300	6503	55723167	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1054C>T	12.37:g.57436900G>A	ENSP00000393392:p.Arg352Cys		55723167	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111582	0.77210	0.0	1.16E-4	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473;ENST00000492945	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.17	5.17	0.71159	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95369	0.8462	10	0.87932	D	0	.	16.5838	0.84722	0.0:0.0:1.0:0.0	.	352	Q9UBC5	MYO1A_HUMAN	C	352;352;190;48	ENSP00000300119:R352C;ENSP00000393392:R352C;ENSP00000440514:R190C;ENSP00000452229:R48C	ENSP00000300119:R352C	R	-	1	0	MYO1A	55723167	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	6.458000	0.73509	2.861000	0.98227	0.655000	0.94253	CGC		0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		A	57436900	G	A	57436900	3	1	353	1	0	0	0	0	1	0	0	0	10068	1116	39	1	2145	1	MYO1A	12	57436900	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	4424756	57436900	76414995	31	19264											
CTDSP2	10106	genome.wustl.edu	37	12	58220830	58220830	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr12:58220830C>A	ENST00000398073.2	-	4	606	c.303G>T	c.(301-303)agG>agT	p.R101S	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR|MIR26A2_ENST00000385054.1_RNA	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	101	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					CCACACAGATCCTTCCTTGAT	0.493																																																0			12											118	115	116					12																	58220830		1965	4151	6116	56507097	SO:0001583	missense	10106			AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.303G>T	12.37:g.58220830C>A	ENSP00000381148:p.Arg101Ser		56507097	A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	CCDS41801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.529179|3.529179	0.64860|0.64860	.|.	.|.	ENSG00000175215|ENSG00000175215	ENST00000550144|ENST00000398073	.|T	.|0.18016	.|2.24	4.92|4.92	4.02|4.02	0.46733|0.46733	.|NLI interacting factor (2);HAD-like domain (2);	.|0.046883	.|0.85682	.|D	.|0.000000	T|T	0.24431|0.24431	0.0592|0.0592	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|P	.|0.39601	.|0.68	.|B	.|0.39876	.|0.312	T|T	0.05566|0.05566	-1.0877|-1.0877	5|10	.|0.87932	.|D	.|0	-27.6026|-27.6026	8.4677|8.4677	0.32966|0.32966	0.0:0.8129:0.0:0.1871|0.0:0.8129:0.0:0.1871	.|.	.|101	.|O14595	.|CTDS2_HUMAN	Y|S	71|101	.|ENSP00000381148:R101S	.|ENSP00000381148:R101S	D|R	-|-	1|3	0|2	CTDSP2|CTDSP2	56507097|56507097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.969000|1.969000	0.40510|0.40510	1.395000|1.395000	0.46643|0.46643	0.563000|0.563000	0.77884|0.77884	GAT|AGG		0.493	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		A	58220830	C	A	58220830	3	1	353	1	0	0	0	0	1	0	0	0	4004	854	30	3	532	3	CTDSP2	12	58220830	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	783930	58220830	75631065	32	19265											
POLR3B	55703	genome.wustl.edu	37	12	106895134	106895134	+	Silent	SNP	C	C	T	rs373346251		TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr12:106895134C>T	ENST00000228347.4	+	26	3240	c.3018C>T	c.(3016-3018)ccC>ccT	p.P1006P	POLR3B_ENST00000539066.1_Silent_p.P948P|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1006					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ATTTTGGCCCCGTGTACTATC	0.463																																																0			12						C	,	0,4406		0,0,2203	72	75	74		2844,3018	-10.5	0.4	12		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	POLR3B	NM_001160708.1,NM_018082.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	948/1076,1006/1134	106895134	1,13005	2203	4300	6503	105419264	SO:0001819	synonymous_variant	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3018C>T	12.37:g.106895134C>T			105419264	A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	CCDS9105.1																																																																																				0.463	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		T	106895134	C	T	106895134	2	4	353	1	0	0	0	0	0	0	0	1	12229	639	23	1		1	POLR3B	12	106895134	Silent	SNP	C	TCGA-29-1783-01A-01W-0633-09	48674304	106895134	26956761	33	19266											
VASH1	22846	genome.wustl.edu	37	14	77237567	77237567	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr14:77237567A>G	ENST00000167106.4	+	3	1066	c.433A>G	c.(433-435)Aag>Gag	p.K145E	VASH1_ENST00000556038.1_3'UTR|VASH1_ENST00000554237.1_Missense_Mutation_p.K145E	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	145					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CTTTGAAATTAAGAAGAGCAG	0.537																																																0			14											111	99	103					14																	77237567		2203	4300	6503	76307320	SO:0001583	missense	22846			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"KIAA1036"	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.433A>G	14.37:g.77237567A>G	ENSP00000167106:p.Lys145Glu		76307320	Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827277	0.90955	.	.	ENSG00000071246	ENST00000167106;ENST00000554237	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	L	0.48362	1.52	0.80722	D	1	D;D	0.69078	0.965;0.997	P;D	0.64042	0.78;0.921	T	0.71174	-0.4670	9	0.72032	D	0.01	-11.4317	14.1988	0.65688	1.0:0.0:0.0:0.0	.	145;145	Q7L8A9;Q7L8A9-2	VASH1_HUMAN;.	E	145	.	ENSP00000167106:K145E	K	+	1	0	VASH1	76307320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.765000	0.52091	0.459000	0.35465	AAG		0.537	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		G	77237567	A	G	77237567	3	3	353	1	0	0	0	0	1	0	0	0	17125	363	13	4	443	4	VASH1	14	77237567	Missense_Mutation	SNP	A	TCGA-29-1783-01A-01W-0633-09		77237567	30111973	34	19267											
DYNC1H1	1778	genome.wustl.edu	37	14	102493590	102493590	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr14:102493590G>A	ENST00000360184.4	+	45	9015	c.8851G>A	c.(8851-8853)Gcc>Acc	p.A2951T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2951	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCGTTTCGTCGCCTGGATGAA	0.488																																																0			14											296	252	267					14																	102493590		2203	4300	6503	101563343	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8851G>A	14.37:g.102493590G>A	ENSP00000348965:p.Ala2951Thr		101563343	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	36	5.956091	0.97145	.	.	ENSG00000197102	ENST00000360184	T	0.60548	0.18	5.81	5.81	0.92471	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.051204	0.85682	D	0.000000	T	0.78084	0.4228	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.78785	-0.2068	10	0.56958	D	0.05	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	2951	Q14204	DYHC1_HUMAN	T	2951	ENSP00000348965:A2951T	ENSP00000348965:A2951T	A	+	1	0	DYNC1H1	101563343	1.000000	0.71417	0.986000	0.45419	0.936000	0.57629	9.531000	0.98054	2.736000	0.93811	0.655000	0.94253	GCC		0.488	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102493590	G	A	102493590	3	1	353	1	0	0	0	0	1	0	0	0	4841	1087	38	1	9029	1	DYNC1H1	14	102493590	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	25256023	102493590	4855950	35	19268											
ACSBG1	23205	genome.wustl.edu	37	15	78471002	78471002	+	Silent	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr15:78471002G>A	ENST00000258873.4	-	11	1861	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	ACSBG1_ENST00000541759.1_Silent_p.G310G|ACSBG1_ENST00000560817.1_Silent_p.G310G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	552					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CGTCCAGGCGGCCAGCATCAC	0.617																																																0			15											89	60	70					15																	78471002		2196	4293	6489	76258057	SO:0001819	synonymous_variant	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1656C>T	15.37:g.78471002G>A			76258057	B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	CCDS10298.1																																																																																				0.617	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		A	78471002	G	A	78471002	2	1	353	1	0	0	0	0	0	0	0	1	173	1190	42	2		2	ACSBG1	15	78471002	Silent	SNP	G	TCGA-29-1783-01A-01W-0633-09		78471002	24060390	36	19269											
BTBD1	53339	genome.wustl.edu	37	15	83718867	83718867	+	Missense_Mutation	SNP	T	T	C	rs115033616	byFrequency	TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr15:83718867T>C	ENST00000261721.4	-	3	824	c.622A>G	c.(622-624)Atg>Gtg	p.M208V	BTBD1_ENST00000379403.2_Missense_Mutation_p.M208V|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	208					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATTGCATCCATTGTGCTTTTG	0.323													T|||	5	0.000998403	0	0.0014	5008	,	,		17585	0		0.004	False		,,,				2504	0															0			15						T	VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	124	116	119		622,622	-0.9	0.3	15	dbSNP_132	119	21,8579	14.6+/-50.1	0,21,4279	yes	missense,missense	BTBD1	NM_001011885.1,NM_025238.3	21,21	0,22,6481	CC,CT,TT		0.2442,0.0227,0.1692	benign,benign	208/386,208/483	83718867	22,12984	2203	4300	6503	81509871	SO:0001583	missense	53339			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.622A>G	15.37:g.83718867T>C	ENSP00000261721:p.Met208Val		81509871	A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	CCDS10322.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	11.82	1.751756	0.31046	2.27E-4	0.002442	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.67865	-0.29;-0.29	5.51	-0.916	0.10489	BTB/Kelch-associated (2);	0.321368	0.40554	N	0.001065	T	0.36468	0.0968	N	0.02802	-0.49	0.25196	N	0.990096	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.22347	-1.0219	10	0.33141	T	0.24	-7.6133	10.4737	0.44652	0.0:0.4494:0.0:0.5506	.	208;208	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	V	208	ENSP00000261721:M208V;ENSP00000368713:M208V	ENSP00000261721:M208V	M	-	1	0	BTBD1	81509871	0.264000	0.24093	0.269000	0.24586	0.998000	0.95712	0.712000	0.25779	-0.333000	0.08476	0.533000	0.62120	ATG		0.323	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			C	83718867	T	C	83718867	3	2	353	1	0	0	0	0	1	0	0	0	1537	1493	52	4	850	4	BTBD1	15	83718867	Missense_Mutation	SNP	T	TCGA-29-1783-01A-01W-0633-09	5247865	83718867	18812525	37	19270											
LOC81691	81691	genome.wustl.edu	37	16	20824601	20824601	+	Silent	SNP	C	C	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr16:20824601C>G	ENST00000261377.6	+	3	437	c.228C>G	c.(226-228)ggC>ggG	p.G76G	AC004381.6_ENST00000348433.6_Silent_p.G76G|AC004381.6_ENST00000567297.1_3'UTR|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.G76G	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CAGTTCTGGGCAAATCCAATG	0.388																																																0			16											67	65	66					16																	20824601		2201	4300	6501	20732102	SO:0001819	synonymous_variant	81691																														ENST00000261377.6:c.228C>G	16.37:g.20824601C>G			20732102		Silent	SNP	ENST00000261377.6	37	CCDS10591.1																																																																																				0.388	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			G	20824601	C	G	20824601	2	3	353	1	0	0	0	0	0	0	0	1	8890	697	25	3		3	LOC81691	16	20824601	Silent	SNP	C	TCGA-29-1783-01A-01W-0633-09		20824601	69530152	38	19271											
TP53	7157	genome.wustl.edu	37	17	7579319	7579320	+	Frame_Shift_Ins	INS	-	-	TC	rs587780067		TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr17:7579319_7579320insTC	ENST00000269305.4	-	4	556_557	c.367_368insGA	c.(367-369)actfs	p.T123fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.T123fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.T123fs	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	123	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> I (in a sporadic cancer; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G59fs*23(3)|p.T123I(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	GACCGTGCAAGTCACAGACTTG	0.545		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"	19	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(1)|Deletion - In frame(1)	upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|breast(3)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)	17																																								7520045	SO:0001589	frameshift_variant	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.366_367dupGA	17.37:g.7579320_7579321dupTC	ENSP00000269305:p.Thr123fs		7520044	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		TC	7579320	-	TC	7579319	7	5	353	1	0	1	1	0	0	0	0	0	16381	1029	36	0	934	0	TP53	17	7579319	Frame_Shift_Ins	INS	-	TCGA-29-1783-01A-01W-0633-09		7579319	73615891	39	19272											
HNF1B	6928	genome.wustl.edu	37	17	36093664	36093664	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr17:36093664C>T	ENST00000225893.4	-	3	1056	c.695G>A	c.(694-696)cGc>cAc	p.R232H	HNF1B_ENST00000560016.1_Missense_Mutation_p.R232H|HNF1B_ENST00000427275.2_Missense_Mutation_p.R206H|HNF1B_ENST00000561193.1_Missense_Mutation_p.R206H	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	232					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGGTTGCGGCGCATCTTCTT	0.567																																					Colon(71;102 1179 9001 27917 43397)											0			17											89	84	86					17																	36093664		2203	4300	6503	33167777	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.695G>A	17.37:g.36093664C>T	ENSP00000225893:p.Arg232His		33167777	B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998256	0.93227	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.97303	-4.33;-4.33	5.18	5.18	0.71444	Homeobox (3);Homeodomain-like (1);	0.147964	0.56097	D	0.000025	D	0.98314	0.9441	M	0.83603	2.65	0.80722	D	1	P;D;D	0.71674	0.536;0.973;0.998	B;P;D	0.63793	0.065;0.476;0.918	D	0.99177	1.0866	10	0.87932	D	0	-4.9051	17.8319	0.88685	0.0:1.0:0.0:0.0	.	206;232;232	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	H	232;206;232;120	ENSP00000225893:R232H;ENSP00000412212:R206H	ENSP00000225893:R232H	R	-	2	0	HNF1B	33167777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.320000	0.79064	2.684000	0.91462	0.591000	0.81541	CGC		0.567	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		T	36093664	C	T	36093664	3	4	353	1	0	0	0	0	1	0	0	0	7252	768	27	1	1006	1	HNF1B	17	36093664	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	28514345	36093664	45101546	40	19273											
CA10	56934	genome.wustl.edu	37	17	49825008	49825008	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr17:49825008C>G	ENST00000285273.4	-	5	1561	c.450G>C	c.(448-450)caG>caC	p.Q150H	CA10_ENST00000451037.2_Missense_Mutation_p.Q150H|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Missense_Mutation_p.Q75H|CA10_ENST00000340813.6_Missense_Mutation_p.Q156H|CA10_ENST00000442502.2_Missense_Mutation_p.Q150H	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	150					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CAGAGAAGGCCTGTCCATTGA	0.498																																																0			17											179	166	170					17																	49825008		2203	4300	6503	47180007	SO:0001583	missense	56934			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.450G>C	17.37:g.49825008C>G	ENSP00000285273:p.Gln150His		47180007	B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	c	15.50	2.852691	0.51270	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.72	2.61	0.31194	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	L	0.45698	1.435	0.58432	D	0.999993	D;D;B	0.76494	0.999;0.999;0.13	D;D;B	0.74023	0.982;0.982;0.149	T	0.70008	-0.4990	9	.	.	.	.	7.701	0.28623	0.0:0.6674:0.0:0.3326	.	150;156;75	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	H	150;150;150;156	ENSP00000390666:Q150H;ENSP00000285273:Q150H;ENSP00000405388:Q150H;ENSP00000340363:Q156H	.	Q	-	3	2	CA10	47180007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.486000	0.35530	0.370000	0.24538	0.655000	0.94253	CAG		0.498	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		G	49825008	C	G	49825008	3	3	353	1	0	0	0	0	1	0	0	0	2511	680	24	3	560	3	CA10	17	49825008	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	13731344	49825008	31370202	41	19274											
BRIP1	83990	genome.wustl.edu	37	17	59876618	59876618	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr17:59876618C>T	ENST00000259008.2	-	9	1450	c.1183G>A	c.(1183-1185)Gct>Act	p.A395T	BRIP1_ENST00000577598.1_Missense_Mutation_p.A395T	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	395	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATGTTATGAGCTTCATCTAAA	0.358			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0			17											96	89	91					17																	59876618		2203	4300	6503	57231400	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1183G>A	17.37:g.59876618C>T	ENSP00000259008:p.Ala395Thr		57231400	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402189	0.96030	.	.	ENSG00000136492	ENST00000259008	D	0.83250	-1.7	5.61	5.61	0.85477	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96561	0.9415	9	.	.	.	-17.7862	18.6272	0.91344	0.0:1.0:0.0:0.0	.	395	Q9BX63	FANCJ_HUMAN	T	395	ENSP00000259008:A395T	.	A	-	1	0	BRIP1	57231400	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.010000	0.76353	2.652000	0.90054	0.460000	0.39030	GCT		0.358	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		T	59876618	C	T	59876618	3	4	353	1	0	0	0	0	1	0	0	0	1514	797	28	2	2614	2	BRIP1	17	59876618	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	10051610	59876618	21318592	42	19275											
ATP5A1	498	genome.wustl.edu	37	18	43669957	43669957	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr18:43669957C>T	ENST00000398752.6	-	4	436	c.315G>A	c.(313-315)atG>atA	p.M105I	ATP5A1_ENST00000282050.2_Missense_Mutation_p.M105I|ATP5A1_ENST00000590665.1_Missense_Mutation_p.M105I|ATP5A1_ENST00000593152.2_Missense_Mutation_p.M55I	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	105					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGTTCAAGGACATACCCTGCA	0.443																																																0			18											76	64	68					18																	43669957		2203	4300	6503	41923955	SO:0001583	missense	498			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.315G>A	18.37:g.43669957C>T	ENSP00000381736:p.Met105Ile		41923955	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837724	0.71373	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.85773	-2.03;-2.03	5.14	5.14	0.70334	ATPase, F1/A1 complex, alpha subunit, N-terminal (1);ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	L	0.42744	1.35	0.80722	D	1	B	0.28026	0.198	B	0.29176	0.099	T	0.80743	-0.1246	10	0.52906	T	0.07	-43.3458	18.6414	0.91397	0.0:1.0:0.0:0.0	.	105	P25705	ATPA_HUMAN	I	105;105;55	ENSP00000282050:M105I;ENSP00000381736:M105I	ENSP00000282050:M105I	M	-	3	0	ATP5A1	41923955	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.399000	0.81585	0.655000	0.94253	ATG		0.443	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		T	43669957	C	T	43669957	3	4	353	1	0	0	0	0	1	0	0	0	1147	478	17	2	1382	2	ATP5A1	18	43669957	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09		43669957	34407291	43	19276											
AP1M2	10053	genome.wustl.edu	37	19	10694741	10694741	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr19:10694741C>G	ENST00000250244.6	-	2	130	c.48G>C	c.(46-48)ttG>ttC	p.L16F	AP1M2_ENST00000590923.1_Missense_Mutation_p.L16F	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	16					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGCGGCTGATCAATGGCTGAG	0.597																																																0			19											58	60	59					19																	10694741		2138	4255	6393	10555741	SO:0001583	missense	10053			AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.48G>C	19.37:g.10694741C>G	ENSP00000250244:p.Leu16Phe		10555741	B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225898	0.58668	.	.	ENSG00000129354	ENST00000250244	T	0.74002	-0.8	4.36	4.36	0.52297	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.64402	D	0.000018	D	0.88385	0.6422	H	0.94925	3.6	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.70716	0.962;0.97	D	0.90625	0.4562	10	0.87932	D	0	-18.804	11.1165	0.48264	0.1851:0.8149:0.0:0.0	.	16;16	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	F	16	ENSP00000250244:L16F	ENSP00000250244:L16F	L	-	3	2	AP1M2	10555741	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	1.816000	0.38992	2.250000	0.74265	0.491000	0.48974	TTG		0.597	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			G	10694741	C	G	10694741	3	3	353	1	0	0	0	0	1	0	0	0	735	825	29	3	1267	3	AP1M2	19	10694741	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09		10694741	48434242	44	19277											
PPP1R15A	23645	genome.wustl.edu	37	19	49377589	49377589	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr19:49377589G>C	ENST00000200453.5	+	2	1368	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	367	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTCTGGATCAGATGAGGAAGA	0.542																																																0			19											86	89	88					19																	49377589		2203	4300	6503	54069401	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1099G>C	19.37:g.49377589G>C	ENSP00000200453:p.Asp367His		54069401	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813821	0.32053	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05786	3.39	4.77	0.181	0.15073	.	1.163930	0.06327	N	0.705531	T	0.05547	0.0146	L	0.36672	1.1	0.21355	N	0.999715	P	0.45078	0.85	B	0.37780	0.258	T	0.39187	-0.9626	10	0.52906	T	0.07	-1.0324	5.2294	0.15414	0.2627:0.1527:0.5846:0.0	.	367	O75807	PR15A_HUMAN	H	367;207;325	ENSP00000200453:D367H	ENSP00000200453:D367H	D	+	1	0	PPP1R15A	54069401	0.000000	0.05858	0.884000	0.34674	0.429000	0.31625	0.134000	0.15932	0.176000	0.19873	0.650000	0.86243	GAT		0.542	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		C	49377589	G	C	49377589	3	2	353	1	0	0	0	0	1	0	0	0	12366	942	33	3	1101	3	PPP1R15A	19	49377589	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	38682848	49377589	9751394	45	19278			1	13		5	5	1322	G		1.778775e-12
PPP1R15A	23645	genome.wustl.edu	37	19	49377706	49377706	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr19:49377706G>T	ENST00000200453.5	+	2	1485	c.1216G>T	c.(1216-1218)Gat>Tat	p.D406Y		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	406	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TGAGGACAGTGATACAGGATC	0.542																																																0			19											139	132	134					19																	49377706		2203	4300	6503	54069518	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1216G>T	19.37:g.49377706G>T	ENSP00000200453:p.Asp406Tyr		54069518	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879342	0.51801	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.08896	3.04	4.58	4.58	0.56647	.	0.471077	0.18679	N	0.134207	T	0.27967	0.0689	M	0.66297	2.02	0.53688	D	0.999977	D	0.89917	1.0	D	0.87578	0.998	T	0.00893	-1.1524	10	0.72032	D	0.01	-12.4488	15.7089	0.77609	0.0:0.0:1.0:0.0	.	406	O75807	PR15A_HUMAN	Y	406;246;364	ENSP00000200453:D406Y	ENSP00000200453:D406Y	D	+	1	0	PPP1R15A	54069518	0.467000	0.25831	0.125000	0.21846	0.270000	0.26580	2.422000	0.44696	2.480000	0.83734	0.650000	0.86243	GAT		0.542	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		T	49377706	G	T	49377706	3	4	353	1	0	0	0	0	1	0	0	0	12366	1290	45	3	1218	3	PPP1R15A	19	49377706	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	117	49377706	9751277	46	19279			1	13		5	5	1322	G		1.778775e-12
PPP1R15A	23645	genome.wustl.edu	37	19	49377957	49377957	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr19:49377957G>C	ENST00000200453.5	+	2	1736	c.1467G>C	c.(1465-1467)gaG>gaC	p.E489D		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	489	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with KMT2A/MLL1.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTGGAAAAGAGACAGAGGAAG	0.607																																																0			19											80	76	78					19																	49377957		2203	4300	6503	54069769	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1467G>C	19.37:g.49377957G>C	ENSP00000200453:p.Glu489Asp		54069769	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	6.661	0.490547	0.12702	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.04970	3.52	4.13	-7.12	0.01537	.	0.692857	0.12343	N	0.477333	T	0.01800	0.0057	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.42068	-0.9473	10	0.11794	T	0.64	-0.9918	2.7003	0.05146	0.2672:0.4424:0.1526:0.1377	.	489	O75807	PR15A_HUMAN	D	489;329;447	ENSP00000200453:E489D	ENSP00000200453:E489D	E	+	3	2	PPP1R15A	54069769	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-0.291000	0.08343	-1.389000	0.02090	-0.142000	0.14014	GAG		0.607	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		C	49377957	G	C	49377957	3	2	353	1	0	0	0	0	1	0	0	0	12366	933	33	3	1469	3	PPP1R15A	19	49377957	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	251	49377957	9751026	47	19280			1	13		5	5	1322	G		1.778775e-12
PPP1R15A	23645	genome.wustl.edu	37	19	49378027	49378027	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr19:49378027G>C	ENST00000200453.5	+	2	1806	c.1537G>C	c.(1537-1539)Gta>Cta	p.V513L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	513	Interaction with KMT2A/MLL1.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGCCATCTATGTACCTGGAGA	0.617																																																0			19											52	50	51					19																	49378027		2203	4300	6503	54069839	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1537G>C	19.37:g.49378027G>C	ENSP00000200453:p.Val513Leu		54069839	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	2.214	-0.379969	0.05000	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.03301	3.98	4.43	-8.8	0.00817	.	0.922975	0.08976	N	0.866568	T	0.01124	0.0037	N	0.01729	-0.75	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44436	-0.9328	10	0.02654	T	1	-0.1277	10.5565	0.45121	0.0:0.5077:0.3453:0.147	.	513	O75807	PR15A_HUMAN	L	513;353;471	ENSP00000200453:V513L	ENSP00000200453:V513L	V	+	1	0	PPP1R15A	54069839	0.005000	0.15991	0.365000	0.25901	0.920000	0.55202	-1.602000	0.02079	-2.072000	0.00879	-1.036000	0.02392	GTA		0.617	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		C	49378027	G	C	49378027	3	2	353	1	0	0	0	0	1	0	0	0	12366	1377	48	3	1539	3	PPP1R15A	19	49378027	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	70	49378027	9750956	48	19281			1	13		5	5	1322	G		1.778775e-12
PPP1R15A	23645	genome.wustl.edu	37	19	49378910	49378910	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr19:49378910G>C	ENST00000200453.5	+	3	1974	c.1705G>C	c.(1705-1707)Gtc>Ctc	p.V569L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	569	Interaction with SMARCB1.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TTTCCTGGCTGTCTGGGCAGG	0.692																																																0			19											33	38	36					19																	49378910		2202	4295	6497	54070722	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1705G>C	19.37:g.49378910G>C	ENSP00000200453:p.Val569Leu		54070722	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782478	0.90282	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.23552	1.9	4.87	4.87	0.63330	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.000000	0.56097	D	0.000024	T	0.51805	0.1696	M	0.79258	2.445	0.48830	D	0.999714	D	0.89917	1.0	D	0.85130	0.997	T	0.55496	-0.8132	10	0.87932	D	0	-28.0661	14.2284	0.65875	0.0:0.0:1.0:0.0	.	569	O75807	PR15A_HUMAN	L	569;409;527	ENSP00000200453:V569L	ENSP00000200453:V569L	V	+	1	0	PPP1R15A	54070722	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	4.723000	0.61965	2.629000	0.89072	0.591000	0.81541	GTC		0.692	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		C	49378910	G	C	49378910	3	2	353	1	0	0	0	0	1	0	0	0	12366	1377	48	3	1711	3	PPP1R15A	19	49378910	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	883	49378910	9750073	49	19282			1	13		5	5	1322	G		1.778775e-12
ESF1	51575	genome.wustl.edu	37	20	13698050	13698050	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr20:13698050T>A	ENST00000202816.1	-	13	2334	c.2227A>T	c.(2227-2229)Atg>Ttg	p.M743L		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	743	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCTTTTTCATGAGCTGCTTT	0.393																																																0			20											249	216	227					20																	13698050		2203	4300	6503	13646050	SO:0001583	missense	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2227A>T	20.37:g.13698050T>A	ENSP00000202816:p.Met743Leu		13646050	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	8.299	0.819580	0.16607	.	.	ENSG00000089048	ENST00000202816	T	0.21361	2.01	5.87	4.75	0.60458	.	0.200752	0.48767	N	0.000166	T	0.17704	0.0425	L	0.39020	1.185	0.32359	N	0.557494	B	0.02656	0.0	B	0.04013	0.001	T	0.08806	-1.0704	10	0.30078	T	0.28	-32.0468	13.1262	0.59356	0.0:0.0:0.1337:0.8663	.	743	Q9H501	ESF1_HUMAN	L	743	ENSP00000202816:M743L	ENSP00000202816:M743L	M	-	1	0	ESF1	13646050	0.997000	0.39634	0.984000	0.44739	0.998000	0.95712	2.565000	0.45939	1.116000	0.41820	0.533000	0.62120	ATG		0.393	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		A	13698050	T	A	13698050	3	1	353	1	0	0	0	0	1	0	0	0	5251	1464	51	5	336	5	ESF1	20	13698050	Missense_Mutation	SNP	T	TCGA-29-1783-01A-01W-0633-09		13698050	49327470	50	19283											
C20orf132	140699	genome.wustl.edu	37	20	35783512	35783512	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chr20:35783512C>G	ENST00000400441.3	-	9	1027	c.1028G>C	c.(1027-1029)aGc>aCc	p.S343T	MROH8_ENST00000441008.2_Missense_Mutation_p.S329T|MROH8_ENST00000217333.8_Intron			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	243																	TTGAGCCATGCTGGCCGTGGC	0.507																																																0			20											130	126	127					20																	35783512		1969	4159	6128	35216926	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1028G>C	20.37:g.35783512C>G	ENSP00000383291:p.Ser343Thr		35216926	Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.910|3.910	-0.020275|-0.020275	0.07634|0.07634	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811;ENST00000400440|ENST00000441008;ENST00000400441	.|T;T	.|0.65549	.|-0.16;1.49	5.57|5.57	2.49|2.49	0.30216|0.30216	.|.	.|0.348630	.|0.31859	.|N	.|0.006957	T|T	0.48077|0.48077	0.1480|0.1480	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	.|B;B	.|0.17038	.|0.02;0.003	.|B;B	.|0.17979	.|0.02;0.012	T|T	0.28902|0.28902	-1.0029|-1.0029	5|10	.|0.22706	.|T	.|0.39	-2.644|-2.644	4.1492|4.1492	0.10230|0.10230	0.1687:0.5925:0.152:0.0869|0.1687:0.5925:0.152:0.0869	.|.	.|343;353	.|E7ETR9;Q6PF12	.|.;.	P|T	370;374|329;343	.|ENSP00000392144:S329T;ENSP00000383291:S343T	.|ENSP00000383291:S343T	A|S	-|-	1|2	0|0	C20orf132|C20orf132	35216926|35216926	0.831000|0.831000	0.29352|0.29352	0.032000|0.032000	0.17829|0.17829	0.016000|0.016000	0.09150|0.09150	1.020000|1.020000	0.30027|0.30027	0.353000|0.353000	0.24079|0.24079	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.507	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		G	35783512	C	G	35783512	3	3	353	1	0	0	0	0	1	0	0	0	2086	797	28	3	2176	3	C20orf132	20	35783512	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	22085462	35783512	27242008	51	19284											
MAGEB6	158809	genome.wustl.edu	37	X	26212988	26212988	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chrX:26212988T>C	ENST00000379034.1	+	2	1174	c.1025T>C	c.(1024-1026)gTg>gCg	p.V342A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	342	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GATAAGTACGTGGTTTACCGG	0.493																																																0			X											107	105	106					X																	26212988		2201	4281	6482	26122909	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1025T>C	X.37:g.26212988T>C	ENSP00000368320:p.Val342Ala		26122909	Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704653	0.30232	.	.	ENSG00000176746	ENST00000379034	T	0.04970	3.52	3.29	3.29	0.37713	.	0.091506	0.45361	U	0.000371	T	0.07999	0.0200	L	0.49126	1.545	0.09310	N	1	P	0.37207	0.587	B	0.40444	0.329	T	0.15350	-1.0440	10	0.87932	D	0	.	7.3105	0.26471	0.0:0.0:0.0:1.0	.	342	Q8N7X4	MAGB6_HUMAN	A	342	ENSP00000368320:V342A	ENSP00000368320:V342A	V	+	2	0	MAGEB6	26122909	0.571000	0.26659	0.009000	0.14445	0.001000	0.01503	2.924000	0.48876	1.535000	0.49220	0.481000	0.45027	GTG		0.493	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		C	26212988	T	C	26212988	3	2	353	1	0	0	0	0	1	0	0	0	9179	1696	59	4	1027	4	MAGEB6	23	26212988	Missense_Mutation	SNP	T	TCGA-29-1783-01A-01W-0633-09		26212988	129057572	52	19285											
GPR34	2857	genome.wustl.edu	37	X	41555341	41555341	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chrX:41555341G>A	ENST00000378142.4	+	3	739	c.455G>A	c.(454-456)cGc>cAc	p.R152H	CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R152H|CASK_ENST00000378154.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	152					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTTTGGATCGCTATATAAAA	0.368																																																0			X											119	111	113					X																	41555341		2203	4300	6503	41440285	SO:0001583	missense	2857			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.455G>A	X.37:g.41555341G>A	ENSP00000367384:p.Arg152His		41440285	O95853	Missense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491581	0.84962	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	D;D	0.97161	-4.27;-4.27	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99107	1.0845	10	0.87932	D	0	-12.7142	19.3529	0.94398	0.0:0.0:1.0:0.0	.	152	Q9UPC5	GPR34_HUMAN	H	152;152;105	ENSP00000367384:R152H;ENSP00000367378:R152H	ENSP00000367378:R152H	R	+	2	0	GPR34	41440285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.471000	0.97696	2.523000	0.85059	0.594000	0.82650	CGC		0.368	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		A	41555341	G	A	41555341	3	1	353	1	0	0	0	0	1	0	0	0	6689	1087	38	1	457	1	GPR34	23	41555341	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	15342353	41555341	113715219	53	19286											
CLCN5	1184	genome.wustl.edu	37	X	49854820	49854820	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chrX:49854820C>A	ENST00000307367.2	+	10	1873	c.1582C>A	c.(1582-1584)Ctg>Atg	p.L528M	CLCN5_ENST00000376088.3_Missense_Mutation_p.L598M|CLCN5_ENST00000376091.3_Missense_Mutation_p.L598M|CLCN5_ENST00000376108.3_Missense_Mutation_p.L528M			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	528					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AATGTTTGAACTGACTGGTGG	0.488																																																0			X											191	175	180					X																	49854820		2203	4300	6503	49741560	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1582C>A	X.37:g.49854820C>A	ENSP00000304257:p.Leu528Met		49741560	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512821	0.64522	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6	5.79	4.04	0.47022	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	M	0.71920	2.185	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.85130	0.989;0.997	D	0.95526	0.8599	10	0.72032	D	0.01	-5.972	10.6713	0.45760	0.0:0.8397:0.0:0.1603	.	528;598	P51795;P51795-2	CLCN5_HUMAN;.	M	598;430;598;528;528	ENSP00000365256:L598M;ENSP00000365259:L598M;ENSP00000365276:L528M;ENSP00000304257:L528M	ENSP00000304257:L528M	L	+	1	2	CLCN5	49741560	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.004000	0.57068	0.612000	0.30071	0.600000	0.82982	CTG		0.488	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			A	49854820	C	A	49854820	3	1	353	1	0	0	0	0	1	0	0	0	3466	564	20	3	1834	3	CLCN5	23	49854820	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	8299479	49854820	105415740	54	19287											
DGKK	139189	genome.wustl.edu	37	X	50119110	50119111	+	RNA	INS	-	-	ACAG			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chrX:50119110_50119111insACAG	ENST00000376025.2	-	0	3384_3385							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CGCTGGCATTCACAGAACCCAT	0.446																																																0			X																																								50135851			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119111_50119114dupACAG			50135850	B2RP91	Frame_Shift_Ins	INS	ENST00000376025.2	37																																																																																					0.446	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		ACAG	50119111	-	ACAG	50119110	6	5	353	0	1	1	1	0	0	0	0	0	4472	813	29	0		0	DGKK	23	50119110	RNA	INS	-	TCGA-29-1783-01A-01W-0633-09	264290	50119110	105151450	55	19288											
TRO	7216	genome.wustl.edu	37	X	54952108	54952108	+	Silent	SNP	A	A	C			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chrX:54952108A>C	ENST00000173898.7	+	7	1681	c.1569A>C	c.(1567-1569)atA>atC	p.I523I	TRO_ENST00000319167.8_Silent_p.I523I|TRO_ENST00000420798.2_Silent_p.I54I|TRO_ENST00000375041.2_Silent_p.I126I|TRO_ENST00000399736.1_Silent_p.I126I|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Silent_p.I523I	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	523	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTGCAGGCATACTGGGAACGT	0.448																																																0			X											53	50	51					X																	54952108		2163	4255	6418	54968833	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1569A>C	X.37:g.54952108A>C			54968833	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																				0.448	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		C	54952108	A	C	54952108	2	2	353	1	0	0	0	0	0	0	0	1	16574	381	14	5		5	TRO	23	54952108	Silent	SNP	A	TCGA-29-1783-01A-01W-0633-09	4832998	54952108	100318452	56	19289											
SPIN3	169981	genome.wustl.edu	37	X	57020872	57020872	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chrX:57020872G>A	ENST00000374919.3	-	2	831	c.509C>T	c.(508-510)cCt>cTt	p.P170L		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	170					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						ATATAATACAGGATCTTTCTC	0.433																																																0			X											94	93	93					X																	57020872		2159	4247	6406	57037597	SO:0001583	missense	169981			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.509C>T	X.37:g.57020872G>A	ENSP00000364054:p.Pro170Leu		57037597	B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.105686	0.56291	.	.	ENSG00000204271	ENST00000374919	T	0.45276	0.9	2.72	1.38	0.22167	.	0.000000	0.64402	U	0.000013	T	0.58032	0.2094	M	0.77313	2.365	0.49483	D	0.999797	D	0.89917	1.0	D	0.77004	0.989	T	0.55655	-0.8107	10	0.59425	D	0.04	-4.5042	6.3869	0.21566	0.224:0.0:0.776:0.0	.	170	Q5JUX0	SPIN3_HUMAN	L	170	ENSP00000364054:P170L	ENSP00000364054:P170L	P	-	2	0	SPIN3	57037597	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.870000	0.63035	0.315000	0.23110	0.600000	0.82982	CCT		0.433	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		A	57020872	G	A	57020872	3	1	353	1	0	0	0	0	1	0	0	0	15057	1000	35	2	271	2	SPIN3	23	57020872	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	2068764	57020872	98249688	57	19290											
LPAR4	2846	genome.wustl.edu	37	X	78010926	78010926	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chrX:78010926C>A	ENST00000435339.3	+	2	946	c.560C>A	c.(559-561)aCc>aAc	p.T187N		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	187					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GCAACCACCACCTGCTTTGAA	0.408																																																0			X											94	79	84					X																	78010926		2203	4298	6501	77897582	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.560C>A	X.37:g.78010926C>A	ENSP00000408205:p.Thr187Asn		77897582	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365383	0.24684	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37915	1.17;1.17	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.059443	0.64402	D	0.000004	T	0.40815	0.1132	M	0.71036	2.16	0.53688	D	0.999971	B	0.29232	0.238	B	0.31495	0.131	T	0.46133	-0.9213	10	0.56958	D	0.05	.	14.3788	0.66897	0.0:1.0:0.0:0.0	.	187	Q99677	LPAR4_HUMAN	N	187	ENSP00000408205:T187N;ENSP00000362398:T187N	ENSP00000362398:T187N	T	+	2	0	LPAR4	77897582	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	4.296000	0.59055	1.938000	0.56188	0.415000	0.27848	ACC		0.408	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		A	78010926	C	A	78010926	3	1	353	1	0	0	0	0	1	0	0	0	8907	507	18	3	562	3	LPAR4	23	78010926	Missense_Mutation	SNP	C	TCGA-29-1783-01A-01W-0633-09	20990054	78010926	77259634	58	19291											
DOCK11	139818	genome.wustl.edu	37	X	117702117	117702117	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chrX:117702117G>A	ENST00000276202.7	+	10	1090	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	Y_RNA_ENST00000384135.1_RNA|DOCK11_ENST00000276204.6_Missense_Mutation_p.E343K	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	343					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTTGATTCAGAAGTTCAGGT	0.284																																																0			X											70	69	69					X																	117702117		2200	4290	6490	117586145	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1027G>A	X.37:g.117702117G>A	ENSP00000276202:p.Glu343Lys		117586145	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350237	0.61183	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.03358	3.96;3.96	5.23	5.23	0.72850	.	0.113273	0.64402	D	0.000017	T	0.05273	0.0140	L	0.43923	1.385	0.54753	D	0.999982	B;B	0.29936	0.262;0.262	B;B	0.28991	0.097;0.097	T	0.36744	-0.9735	10	0.52906	T	0.07	-9.1428	14.5464	0.68032	0.0:0.0:1.0:0.0	.	343;343	A6NIW2;Q5JSL3	.;DOC11_HUMAN	K	343	ENSP00000276204:E343K;ENSP00000276202:E343K	ENSP00000276202:E343K	E	+	1	0	DOCK11	117586145	1.000000	0.71417	0.924000	0.36721	0.955000	0.61496	7.694000	0.84235	2.178000	0.69098	0.544000	0.68410	GAA		0.284	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		A	117702117	G	A	117702117	3	1	353	1	0	0	0	0	1	0	0	0	4686	943	33	2	1065	2	DOCK11	23	117702117	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	39691191	117702117	37568443	59	19292											
OR13H1	347468	genome.wustl.edu	37	X	130678870	130678870	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1783-01A-01W-0633-09	TCGA-29-1783-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	44ea2f32-53d4-4310-a339-7b2de9adcc08	dfba5f76-d9ea-4e47-b9a7-76b427ad3a04	g.chrX:130678870G>A	ENST00000338616.3	+	1	921	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GTTTATCTCAGTGTTTTATGG	0.428																																																0			X											111	104	106					X																	130678870		2203	4299	6502	130506551	SO:0001583	missense	347468				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.823G>A	X.37:g.130678870G>A	ENSP00000340748:p.Val275Met		130506551	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654196	0.14580	.	.	ENSG00000171054	ENST00000338616	T	0.00274	8.35	4.87	-0.295	0.12828	GPCR, rhodopsin-like superfamily (1);	0.427134	0.17017	U	0.190249	T	0.00178	0.0005	L	0.39633	1.23	0.09310	N	1	B	0.27823	0.19	B	0.23574	0.047	T	0.34775	-0.9815	10	0.56958	D	0.05	.	5.8773	0.18836	0.0851:0.505:0.2788:0.1312	.	275	Q8NG92	O13H1_HUMAN	M	275	ENSP00000340748:V275M	ENSP00000340748:V275M	V	+	1	0	OR13H1	130506551	0.000000	0.05858	0.046000	0.18839	0.959000	0.62525	-0.324000	0.07986	-0.121000	0.11787	0.594000	0.82650	GTG		0.428	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			A	130678870	G	A	130678870	3	1	353	1	0	0	0	0	1	0	0	0	10943	1029	36	2	825	2	OR13H1	23	130678870	Missense_Mutation	SNP	G	TCGA-29-1783-01A-01W-0633-09	12976753	130678870	24591690	60	19293											
NPHP4	261734	genome.wustl.edu	37	1	6021901	6021901	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:6021901G>A	ENST00000378156.4	-	6	891	c.626C>T	c.(625-627)tCt>tTt	p.S209F	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	209					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGACCAGACACCAGAAG	0.557																																																0			1											61	63	62					1																	6021901		2007	4163	6170	5944488	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.626C>T	1.37:g.6021901G>A	ENSP00000367398:p.Ser209Phe		5944488	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368403	0.82463	.	.	ENSG00000131697	ENST00000378156	D	0.88431	-2.38	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.69823	2.125	0.49299	D	0.999775	D	0.76494	0.999	D	0.73380	0.98	D	0.94153	0.7407	10	0.72032	D	0.01	.	16.6005	0.84815	0.0:0.0:1.0:0.0	.	209	O75161	NPHP4_HUMAN	F	209	ENSP00000367398:S209F	ENSP00000367398:S209F	S	-	2	0	NPHP4	5944488	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	6.142000	0.71750	2.581000	0.87130	0.551000	0.68910	TCT		0.557	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			A	6021901	G	A	6021901	3	1	354	1	0	0	0	0	1	0	0	0	10581	942	33	2	3754	2	NPHP4	1	6021901	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09		6021901	243228720	1	19294											
PER3	8863	genome.wustl.edu	37	1	7890026	7890026	+	Missense_Mutation	SNP	A	A	G	rs199947375|rs57875989		TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:7890026A>G	ENST00000361923.2	+	18	3167	c.2992A>G	c.(2992-2994)Aag>Gag	p.K998E	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.K1007E	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	998	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.K998E(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCATGAAGAATCCATC	0.587																																																1	Substitution - Missense(1)	central_nervous_system(1)	1											84	69	74					1																	7890026		1999	3897	5896	7812613	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2992A>G	1.37:g.7890026A>G	ENSP00000355031:p.Lys998Glu		7812613	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.434686	0.00182	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.13538	2.58;2.58	.	.	.	Period circadian-like, C-terminal (1);	5.912170	0.01354	N	0.012011	T	0.04724	0.0128	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.26503	-1.0101	8	0.02654	T	1	.	.	.	.	.	998;1007;1007;998	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	E	1007;998	ENSP00000366755:K1007E;ENSP00000355031:K998E	ENSP00000355031:K998E	K	+	1	0	PER3	7812613	0.002000	0.14202	0.013000	0.15412	0.014000	0.08584	-0.844000	0.04345	-0.911000	0.03843	-0.891000	0.02926	AAG		0.587	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		G	7890026	A	G	7890026	3	3	354	1	0	0	0	0	1	0	0	0	11731	247	9	4	3062	4	PER3	1	7890026	Missense_Mutation	SNP	A	TCGA-29-1784-01A-02W-0633-09	1868125	7890026	241360595	2	19295											
ASAP3	55616	genome.wustl.edu	37	1	23759703	23759703	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:23759703G>C	ENST00000336689.3	-	22	2234	c.2190C>G	c.(2188-2190)aaC>aaG	p.N730K	ASAP3_ENST00000495646.1_Missense_Mutation_p.N234K|ASAP3_ENST00000437606.2_Missense_Mutation_p.N721K	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	730					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CATAGGTCTTGTTGCTGATGT	0.607																																																0			1											73	80	77					1																	23759703		2203	4300	6503	23632290	SO:0001583	missense	55616			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2190C>G	1.37:g.23759703G>C	ENSP00000338769:p.Asn730Lys		23632290	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	CCDS235.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976771	0.74360	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.52057	2.08;0.68;0.68	4.69	2.82	0.32997	.	0.960694	0.08477	U	0.940113	T	0.50480	0.1618	L	0.27053	0.805	0.30115	N	0.806204	D;P;D;D	0.60575	0.988;0.804;0.976;0.979	P;P;P;P	0.60236	0.871;0.546;0.7;0.747	T	0.45116	-0.9283	10	0.33141	T	0.24	.	9.9654	0.41721	0.1683:0.0:0.8317:0.0	.	721;620;253;730	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	K	253;234;730;57;721	ENSP00000436150:N234K;ENSP00000338769:N730K;ENSP00000408826:N721K	ENSP00000338769:N730K	N	-	3	2	ASAP3	23632290	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.491000	0.35583	0.715000	0.32103	0.561000	0.74099	AAC		0.607	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		C	23759703	G	C	23759703	3	2	354	1	0	0	0	0	1	0	0	0	1012	1368	48	3	537	3	ASAP3	1	23759703	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	15869677	23759703	225490918	3	19296											
GNL2	29889	genome.wustl.edu	37	1	38034882	38034882	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:38034882C>T	ENST00000373062.3	-	13	1536	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	480					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GGGACAACTTCCAAAGATGAG	0.418																																																0			1											56	53	54					1																	38034882		2203	4300	6503	37807469	SO:0001583	missense	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1438G>A	1.37:g.38034882C>T	ENSP00000362153:p.Glu480Lys		37807469	Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296134	0.40594	.	.	ENSG00000134697	ENST00000373062	T	0.22539	1.95	5.6	4.68	0.58851	.	0.146549	0.64402	D	0.000012	T	0.19604	0.0471	L	0.42245	1.32	0.48975	D	0.999735	B	0.18863	0.031	B	0.21360	0.034	T	0.03728	-1.1009	10	0.18276	T	0.48	-18.2748	15.2181	0.73285	0.0:0.8599:0.1401:0.0	.	480	Q13823	NOG2_HUMAN	K	480	ENSP00000362153:E480K	ENSP00000362153:E480K	E	-	1	0	GNL2	37807469	0.903000	0.30736	0.625000	0.29200	0.118000	0.20060	1.711000	0.37930	1.485000	0.48380	0.650000	0.86243	GAA		0.418	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		T	38034882	C	T	38034882	3	4	354	1	0	0	0	0	1	0	0	0	6536	864	30	2	773	2	GNL2	1	38034882	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	14275179	38034882	211215739	4	19297											
HIVEP3	59269	genome.wustl.edu	37	1	42048372	42048372	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:42048372C>A	ENST00000372583.1	-	4	2982	c.2097G>T	c.(2095-2097)atG>atT	p.M699I	HIVEP3_ENST00000372584.1_Missense_Mutation_p.M699I|HIVEP3_ENST00000429157.2_Missense_Mutation_p.M699I|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.M699I	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	699	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTTTGTAATGCATCATTTGGG	0.532																																																0			1											138	126	130					1																	42048372		2203	4300	6503	41820959	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2097G>T	1.37:g.42048372C>A	ENSP00000361664:p.Met699Ile		41820959	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766620	0.49574	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000004	T	0.21801	0.0525	L	0.46157	1.445	0.39437	D	0.967178	P;P	0.37548	0.599;0.464	B;B	0.44108	0.441;0.256	T	0.02942	-1.1091	10	0.49607	T	0.09	-15.9357	12.773	0.57432	0.0:0.8349:0.1651:0.0	.	699;699	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	I	699	ENSP00000361665:M699I;ENSP00000361664:M699I;ENSP00000247584:M699I;ENSP00000410828:M699I	ENSP00000247584:M699I	M	-	3	0	HIVEP3	41820959	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.691000	0.61738	2.326000	0.78906	0.555000	0.69702	ATG		0.532	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	42048372	C	A	42048372	3	1	354	1	0	0	0	0	1	0	0	0	7188	710	25	3	5147	3	HIVEP3	1	42048372	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	4013490	42048372	207202249	5	19298											
DHCR24	1718	genome.wustl.edu	37	1	55319767	55319767	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:55319767C>T	ENST00000371269.3	-	7	1259	c.1161G>A	c.(1159-1161)atG>atA	p.M387I	DHCR24_ENST00000535035.1_Missense_Mutation_p.M346I|DHCR24_ENST00000537443.1_Missense_Mutation_p.M171I	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	387					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGGGCACCAGCATGTCCTGCA	0.622																																					Pancreas(39;516 1021 24601 30715 32780)											0			1											71	62	65					1																	55319767		2203	4300	6503	55092355	SO:0001583	missense	1718			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1161G>A	1.37:g.55319767C>T	ENSP00000360316:p.Met387Ile		55092355	B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	CCDS600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.319780|5.319780	0.95682|0.95682	.|.	.|.	ENSG00000116133|ENSG00000116133	ENST00000436604|ENST00000371269;ENST00000537443;ENST00000535035	.|T;T;T	.|0.67523	.|-0.27;-0.27;-0.27	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73450|0.73450	0.3588|0.3588	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.58620	.|0.97;0.97;0.983	.|P;P;P	.|0.55615	.|0.629;0.576;0.78	T|T	0.68914|0.68914	-0.5283|-0.5283	5|10	.|0.22109	.|T	.|0.4	-45.0429|-45.0429	18.8078|18.8078	0.92045|0.92045	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|346;346;387	.|B7Z817;B7ZAV4;Q15392	.|.;.;DHC24_HUMAN	T|I	25|387;171;346	.|ENSP00000360316:M387I;ENSP00000439852:M171I;ENSP00000440191:M346I	.|ENSP00000360316:M387I	A|M	-|-	1|3	0|0	DHCR24|DHCR24	55092355|55092355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.741000|7.741000	0.84997|0.84997	2.534000|2.534000	0.85438|0.85438	0.561000|0.561000	0.74099|0.74099	GCT|ATG		0.622	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		T	55319767	C	T	55319767	3	4	354	1	0	0	0	0	1	0	0	0	4476	710	25	2	401	2	DHCR24	1	55319767	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	13271395	55319767	193930854	6	19299											
ACADM	34	genome.wustl.edu	37	1	76198414	76198414	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:76198414T>A	ENST00000370841.4	+	3	641	c.204T>A	c.(202-204)gaT>gaA	p.D68E	ACADM_ENST00000370834.5_Missense_Mutation_p.D68E|ACADM_ENST00000541113.1_Missense_Mutation_p.D32E|ACADM_ENST00000420607.2_Missense_Mutation_p.D72E|ACADM_ENST00000543667.1_5'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	68					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	CAGAATATGATAAAACTGGTG	0.318																																																0			1											78	87	84					1																	76198414		2203	4300	6503	75971002	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.204T>A	1.37:g.76198414T>A	ENSP00000359878:p.Asp68Glu		75971002	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242277	0.79912	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51	5.57	1.43	0.22495	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.99636	1.0987	10	0.66056	D	0.02	.	8.6367	0.33953	0.0:0.3432:0.0:0.6568	.	32;68;68;72;68	B7Z9I1;E9PJM9;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	E	68;68;32;72	ENSP00000359878:D68E;ENSP00000359871:D68E;ENSP00000442324:D32E;ENSP00000409612:D72E	ENSP00000359871:D68E	D	+	3	2	ACADM	75971002	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.785000	0.26830	0.371000	0.24564	0.528000	0.53228	GAT		0.318	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			A	76198414	T	A	76198414	3	1	354	1	0	0	0	0	1	0	0	0	113	1403	49	5	226	5	ACADM	1	76198414	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	20878647	76198414	173052207	7	19300											
ARHGEF11	9826	genome.wustl.edu	37	1	156910168	156910168	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:156910168C>A	ENST00000361409.2	-	35	4186	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E564D|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.E1188D|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1148					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCAGGGTCCTCTAGCAGGA	0.587																																																0			1											86	73	77					1																	156910168		2203	4300	6503	155176792	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3444G>T	1.37:g.156910168C>A	ENSP00000354644:p.Glu1148Asp		155176792	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049542	0.19827	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.71461	-0.57;-0.56;-0.53	4.16	0.988	0.19796	.	0.626077	0.14053	N	0.344577	T	0.32376	0.0827	L	0.27053	0.805	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.13407	0.009;0.002;0.004	T	0.28004	-1.0057	10	0.23891	T	0.37	-0.565	9.1904	0.37195	0.0:0.7013:0.0:0.2987	.	564;1148;1188	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	D	1188;1148;564	ENSP00000357177:E1188D;ENSP00000354644:E1148D;ENSP00000313470:E564D	ENSP00000313470:E564D	E	-	3	2	ARHGEF11	155176792	0.437000	0.25593	0.002000	0.10522	0.614000	0.37383	0.930000	0.28858	0.402000	0.25451	0.561000	0.74099	GAG		0.587	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		A	156910168	C	A	156910168	3	1	354	1	0	0	0	0	1	0	0	0	896	680	24	3	1148	3	ARHGEF11	1	156910168	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	80711754	156910168	92340453	8	19301											
PAPPA2	60676	genome.wustl.edu	37	1	176526225	176526225	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:176526225C>G	ENST00000367662.3	+	2	1931	c.767C>G	c.(766-768)tCc>tGc	p.S256C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S256C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	256					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACCTTTAACTCCCAAGTAGGA	0.557																																																0			1											72	70	71					1																	176526225		1916	4145	6061	174792848	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.767C>G	1.37:g.176526225C>G	ENSP00000356634:p.Ser256Cys		174792848	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419871	0.42918	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.35605	4.57;1.3	4.43	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.193730	0.06157	U	0.675246	T	0.38983	0.1061	L	0.43152	1.355	0.30595	N	0.761135	D;D	0.55172	0.97;0.97	B;B	0.43916	0.436;0.339	T	0.40346	-0.9568	10	0.72032	D	0.01	-1.0988	12.5498	0.56220	0.0:1.0:0.0:0.0	.	256;256	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	256	ENSP00000356634:S256C;ENSP00000356633:S256C	ENSP00000356633:S256C	S	+	2	0	PAPPA2	174792848	0.029000	0.19370	0.394000	0.26270	0.959000	0.62525	1.470000	0.35354	2.024000	0.59613	0.313000	0.20887	TCC		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			G	176526225	C	G	176526225	3	3	354	1	0	0	0	0	1	0	0	0	11433	855	30	3	769	3	PAPPA2	1	176526225	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	19616057	176526225	72724396	9	19302											
PAPPA2	60676	genome.wustl.edu	37	1	176661371	176661371	+	Silent	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:176661371C>T	ENST00000367662.3	+	6	3705	c.2541C>T	c.(2539-2541)ccC>ccT	p.P847P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	847					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCCATCCCCATTCCACCTA	0.517																																																0			1											164	171	169					1																	176661371		2069	4208	6277	174927994	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2541C>T	1.37:g.176661371C>T			174927994	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176661371	C	T	176661371	2	4	354	1	0	0	0	0	0	0	0	1	11433	581	21	2		2	PAPPA2	1	176661371	Silent	SNP	C	TCGA-29-1784-01A-02W-0633-09	135146	176661371	72589250	10	19303											
KCNH1	3756	genome.wustl.edu	37	1	210856996	210856996	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:210856996G>T	ENST00000271751.4	-	11	2624	c.2597C>A	c.(2596-2598)aCa>aAa	p.T866K	KCNH1_ENST00000367007.4_Missense_Mutation_p.T839K			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	866					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGACGCTTTTGTCCTCTCGGG	0.572																																																0			1											98	94	95					1																	210856996		2203	4300	6503	208923619	SO:0001583	missense	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2597C>A	1.37:g.210856996G>T	ENSP00000271751:p.Thr866Lys		208923619	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083845	0.55861	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98862	-5.13;-5.19	4.93	4.93	0.64822	.	0.046720	0.85682	D	0.000000	D	0.96898	0.8987	L	0.56769	1.78	0.80722	D	1	B;B	0.22983	0.078;0.005	B;B	0.21546	0.035;0.003	D	0.95953	0.8956	10	0.06236	T	0.91	.	17.7569	0.88451	0.0:0.0:1.0:0.0	.	839;866	Q14CL3;O95259	.;KCNH1_HUMAN	K	866;839	ENSP00000271751:T866K;ENSP00000355974:T839K	ENSP00000271751:T866K	T	-	2	0	KCNH1	208923619	1.000000	0.71417	0.986000	0.45419	0.808000	0.45660	7.600000	0.82769	2.290000	0.77057	0.561000	0.74099	ACA		0.572	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	210856996	G	T	210856996	3	4	354	1	0	0	0	0	1	0	0	0	8031	1377	48	3	376	3	KCNH1	1	210856996	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	34195625	210856996	38393625	11	19304											
OR2W5	441932	genome.wustl.edu	37	1	247654898	247654898	+	RNA	SNP	T	T	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr1:247654898T>C	ENST00000522351.1	+	0	529							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTAAACTCCTTCATCATGTG	0.582																																																0			1											115	86	96					1																	247654898		2203	4300	6503	245721521			441932					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654898T>C			245721521	B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37																																																																																					0.582	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		C	247654898	T	C	247654898	1	2	354	0	1	0	0	0	0	0	0	0	11034	1609	56	4		4	OR2W5	1	247654898	RNA	SNP	T	TCGA-29-1784-01A-02W-0633-09	36797902	247654898	1595723	12	19305											
POLR1A	25885	genome.wustl.edu	37	2	86254644	86254644	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr2:86254644A>T	ENST00000263857.6	-	34	5443	c.5065T>A	c.(5065-5067)Tcc>Acc	p.S1689T	POLR1A_ENST00000409681.1_Missense_Mutation_p.S1628T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1689					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCATCGTGGGATCCTGACAGA	0.547																																																0			2											65	68	67					2																	86254644		2077	4219	6296	86108155	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.5065T>A	2.37:g.86254644A>T	ENSP00000263857:p.Ser1689Thr		86108155	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499291	0.44455	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.67523	-0.27;-0.27	5.37	2.79	0.32731	.	0.125534	0.56097	D	0.000039	T	0.42899	0.1223	N	0.19112	0.55	0.48975	D	0.999733	P	0.43094	0.799	B	0.31869	0.137	T	0.42498	-0.9448	10	0.28530	T	0.3	-23.0648	11.302	0.49311	0.6731:0.3269:0.0:0.0	.	1689	O95602	RPA1_HUMAN	T	1689;1628	ENSP00000263857:S1689T;ENSP00000386300:S1628T	ENSP00000263857:S1689T	S	-	1	0	POLR1A	86108155	0.981000	0.34729	1.000000	0.80357	0.983000	0.72400	1.751000	0.38339	2.028000	0.59812	0.533000	0.62120	TCC		0.547	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		T	86254644	A	T	86254644	3	4	354	1	0	0	0	0	1	0	0	0	12209	333	12	5	101	5	POLR1A	2	86254644	Missense_Mutation	SNP	A	TCGA-29-1784-01A-02W-0633-09		86254644	156944729	13	19306											
YSK4	80122	genome.wustl.edu	37	2	135744365	135744365	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr2:135744365A>T	ENST00000375845.3	-	7	2107	c.2077T>A	c.(2077-2079)Tca>Aca	p.S693T	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S710T|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S580T|MAP3K19_ENST00000392917.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	693							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CGTCTGCCTGATGGAGCCGAA	0.418																																																0			2											190	176	180					2																	135744365		2203	4300	6503	135460835	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2077T>A	2.37:g.135744365A>T	ENSP00000365005:p.Ser693Thr		135460835	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	A	7.954	0.745471	0.15710	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.73047	-0.62;-0.6;1.73;-0.71	5.67	1.73	0.24493	.	0.328049	0.22378	N	0.060849	T	0.59115	0.2170	L	0.46157	1.445	0.31825	N	0.625441	P;P;P	0.46395	0.553;0.877;0.672	B;B;B	0.43478	0.151;0.421;0.12	T	0.64076	-0.6492	10	0.72032	D	0.01	.	2.5494	0.04745	0.5401:0.1239:0.2268:0.1092	.	580;710;693	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	T	693;580;710;83	ENSP00000365005:S693T;ENSP00000351140:S580T;ENSP00000376647:S710T;ENSP00000392827:S83T	ENSP00000351140:S580T	S	-	1	0	YSK4	135460835	0.000000	0.05858	0.864000	0.33941	0.048000	0.14542	-0.568000	0.05909	0.435000	0.26365	0.459000	0.35465	TCA		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		T	135744365	A	T	135744365	3	4	354	1	0	0	0	0	1	0	0	0	17495	333	12	5	1925	5	YSK4	2	135744365	Missense_Mutation	SNP	A	TCGA-29-1784-01A-02W-0633-09	49489721	135744365	107455008	14	19307											
HAT1	8520	genome.wustl.edu	37	2	172822423	172822423	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr2:172822423T>G	ENST00000264108.4	+	6	641	c.605T>G	c.(604-606)tTt>tGt	p.F202C	HAT1_ENST00000392584.1_Missense_Mutation_p.F117C|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	202					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGGCACTACTTTCTAGTGTAA	0.383																																																0			2											137	127	131					2																	172822423		2203	4300	6503	172530669	SO:0001583	missense	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.605T>G	2.37:g.172822423T>G	ENSP00000264108:p.Phe202Cys		172530669	Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.214304	0.58452	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.93	5.93	0.95920	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.86487	0.1795	9	0.87932	D	0	-21.7509	16.3736	0.83374	0.0:0.0:0.0:1.0	.	117;202	O14929-2;O14929	.;HAT1_HUMAN	C	117;202	.	ENSP00000264108:F202C	F	+	2	0	HAT1	172530669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.273000	0.75805	0.482000	0.46254	TTT		0.383	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		G	172822423	T	G	172822423	3	3	354	1	0	0	0	0	1	0	0	0	6964	1841	64	5	627	5	HAT1	2	172822423	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	37078058	172822423	70376950	15	19308											
FN1	2335	genome.wustl.edu	37	2	216259411	216259411	+	Silent	SNP	A	A	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr2:216259411A>G	ENST00000359671.1	-	24	3901	c.3636T>C	c.(3634-3636)ccT>ccC	p.P1212P	FN1_ENST00000336916.4_Silent_p.P1212P|FN1_ENST00000346544.3_Silent_p.P1212P|FN1_ENST00000357009.2_Silent_p.P1212P|FN1_ENST00000421182.1_Silent_p.P1212P|FN1_ENST00000345488.5_Silent_p.P1212P|FN1_ENST00000357867.4_Silent_p.P1212P|FN1_ENST00000446046.1_Silent_p.P1212P|FN1_ENST00000443816.1_Silent_p.P1212P|FN1_ENST00000356005.4_Silent_p.P1212P|FN1_ENST00000354785.4_Silent_p.P1212P|FN1_ENST00000323926.6_Silent_p.P1212P|FN1_ENST00000432072.2_Silent_p.P1212P			P02751	FINC_HUMAN	fibronectin 1	1212	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				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)		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)	GGCCGTTTGTAGGGGTTGTGG	0.448																																																0			2											105	113	110					2																	216259411		2203	4300	6503	215967656	SO:0001819	synonymous_variant	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.3636T>C	2.37:g.216259411A>G			215967656	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	Silent	SNP	ENST00000359671.1	37																																																																																					0.448	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		G	216259411	A	G	216259411	2	3	354	1	0	0	0	0	0	0	0	1	5962	407	15	4		4	FN1	2	216259411	Silent	SNP	A	TCGA-29-1784-01A-02W-0633-09	43436988	216259411	26939962	16	19309											
NR1D2	9975	genome.wustl.edu	37	3	24003903	24003903	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr3:24003903T>C	ENST00000312521.4	+	5	1272	c.953T>C	c.(952-954)cTc>cCc	p.L318P	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	318	Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CAGCAGCATCTCAATGGACAG	0.408																																																0			3											73	63	67					3																	24003903		2203	4300	6503	23978907	SO:0001583	missense	9975			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.953T>C	3.37:g.24003903T>C	ENSP00000310006:p.Leu318Pro		23978907	B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372874	0.61624	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.92348	-3.02	5.84	5.84	0.93424	Nuclear hormone receptor, ligand-binding (1);	0.588021	0.18391	N	0.142642	D	0.89019	0.6596	L	0.44542	1.39	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	D	0.84327	0.0519	10	0.27785	T	0.31	.	16.2047	0.82120	0.0:0.0:0.0:1.0	.	318	Q14995	NR1D2_HUMAN	P	318	ENSP00000310006:L318P	ENSP00000310006:L318P	L	+	2	0	NR1D2	23978907	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	5.442000	0.66575	2.216000	0.71823	0.533000	0.62120	CTC		0.408	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			C	24003903	T	C	24003903	3	2	354	1	0	0	0	0	1	0	0	0	10616	1551	54	4	971	4	NR1D2	3	24003903	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09		24003903	174018527	17	19310											
AZI2	64343	genome.wustl.edu	37	3	28368395	28368395	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr3:28368395T>C	ENST00000479665.1	-	7	1225	c.694A>G	c.(694-696)Aat>Gat	p.N232D	AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	232	Interaction with TBK1 and IKBKE.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						AGATGTAAATTAGACATTTCT	0.338																																																0			3											194	177	183					3																	28368395		2203	4300	6503	28343399	SO:0001583	missense	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.694A>G	3.37:g.28368395T>C	ENSP00000419371:p.Asn232Asp		28343399	A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	ENST00000479665.1	37	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301881	0.60195	.	.	ENSG00000163512	ENST00000479665	.	.	.	5.83	5.83	0.93111	Tbk1/Ikki binding domain (1);	0.048549	0.85682	D	0.000000	T	0.66781	0.2824	M	0.68952	2.095	0.80722	D	1	B	0.22746	0.074	B	0.24155	0.051	T	0.63157	-0.6700	9	0.36615	T	0.2	-12.2693	16.2078	0.82141	0.0:0.0:0.0:1.0	.	232	Q9H6S1	AZI2_HUMAN	D	232	.	ENSP00000419371:N232D	N	-	1	0	AZI2	28343399	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.145000	0.71769	2.226000	0.72624	0.528000	0.53228	AAT		0.338	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		C	28368395	T	C	28368395	3	2	354	1	0	0	0	0	1	0	0	0	1241	1754	61	4	492	4	AZI2	3	28368395	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	4364492	28368395	169654035	18	19311											
VGLL3	389136	genome.wustl.edu	37	3	87017809	87017809	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr3:87017809C>G	ENST00000398399.2	-	3	1231	c.868G>C	c.(868-870)Gct>Cct	p.A290P	VGLL3_ENST00000383698.3_Missense_Mutation_p.A290P	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGAGGTAGCAGAGGTGACT	0.517																																																0			3											84	85	85					3																	87017809		2080	4203	6283	87100499	SO:0001583	missense	389136			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.868G>C	3.37:g.87017809C>G	ENSP00000381436:p.Ala290Pro		87100499		Missense_Mutation	SNP	ENST00000398399.2	37	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246877	0.59103	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.52983	0.64;0.69	5.77	5.77	0.91146	.	0.069900	0.56097	D	0.000023	T	0.48314	0.1493	L	0.54323	1.7	0.44711	D	0.997702	B	0.19073	0.033	B	0.18561	0.022	T	0.34378	-0.9831	10	0.41790	T	0.15	-9.2068	19.5912	0.95511	0.0:1.0:0.0:0.0	.	290	A8MV65	VGLL3_HUMAN	P	290	ENSP00000381436:A290P;ENSP00000373199:A290P	ENSP00000373199:A290P	A	-	1	0	VGLL3	87100499	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.738000	0.55067	2.744000	0.94065	0.561000	0.74099	GCT		0.517	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		G	87017809	C	G	87017809	3	3	354	1	0	0	0	0	1	0	0	0	17160	710	25	3	120	3	VGLL3	3	87017809	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	58649414	87017809	111004621	19	19312											
DCBLD2	131566	genome.wustl.edu	37	3	98541108	98541108	+	Missense_Mutation	SNP	T	T	C	rs200547215		TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr3:98541108T>C	ENST00000326840.6	-	6	1156	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	DCBLD2_ENST00000326857.9_Missense_Mutation_p.Y265C|DCBLD2_ENST00000469648.1_5'Flank	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	265	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						AGAACTTTCATAATAGGGGAT	0.403																																																0			3						T	CYS/TYR	1,3781		0,1,1890	66	59	61		794	5.8	1	3		61	0,8240		0,0,4120	no	missense	DCBLD2	NM_080927.3	194	0,1,6010	CC,CT,TT		0.0,0.0264,0.0083	probably-damaging	265/776	98541108	1,12021	1891	4120	6011	100023798	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.794A>G	3.37:g.98541108T>C	ENSP00000321573:p.Tyr265Cys		100023798	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534346	0.85812	2.64E-4	0.0	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	D;D	0.93953	-3.32;-3.32	5.83	5.83	0.93111	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98025	1.0373	10	0.51188	T	0.08	-16.2429	14.1414	0.65322	0.0:0.0:0.0:1.0	.	265;265	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	C	265;219;265	ENSP00000321573:Y265C;ENSP00000321646:Y265C	ENSP00000321573:Y265C	Y	-	2	0	DCBLD2	100023798	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.449000	0.80643	2.222000	0.72286	0.477000	0.44152	TAT		0.403	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		C	98541108	T	C	98541108	3	2	354	1	0	0	0	0	1	0	0	0	4281	1406	49	4	1577	4	DCBLD2	3	98541108	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	11523299	98541108	99481322	20	19313											
PDIA5	10954	genome.wustl.edu	37	3	122829811	122829811	+	Silent	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr3:122829811G>A	ENST00000316218.7	+	7	596	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	167	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GGCTCCTGAAGAAGGAAGAGA	0.537																																																0			3											134	137	136					3																	122829811		2203	4300	6503	124312501	SO:0001819	synonymous_variant	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.501G>A	3.37:g.122829811G>A			124312501	D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	CCDS3020.1																																																																																				0.537	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		A	122829811	G	A	122829811	2	1	354	1	0	0	0	0	0	0	0	1	11671	933	33	2		2	PDIA5	3	122829811	Silent	SNP	G	TCGA-29-1784-01A-02W-0633-09	24288703	122829811	75192619	21	19314											
PPP2R3A	5523	genome.wustl.edu	37	3	135825100	135825100	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr3:135825100T>A	ENST00000264977.3	+	13	3882	c.3265T>A	c.(3265-3267)Ttt>Att	p.F1089I	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.F353I|PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.F468I	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1089					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGGACCGGTTTGCCGCTGA	0.448																																																0			3											75	77	76					3																	135825100		2203	4300	6503	137307790	SO:0001583	missense	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3265T>A	3.37:g.135825100T>A	ENSP00000264977:p.Phe1089Ile		137307790	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607425	0.87157	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.42131	0.98;0.98;0.98	6.02	6.02	0.97574	.	0.058812	0.64402	D	0.000001	T	0.57489	0.2057	M	0.64404	1.975	0.80722	D	1	D;P	0.56287	0.975;0.749	P;B	0.56700	0.804;0.339	T	0.60707	-0.7210	10	0.87932	D	0	.	15.7305	0.77800	0.0:0.0:0.0:1.0	.	468;1089	Q06190-2;Q06190	.;P2R3A_HUMAN	I	1089;353;468	ENSP00000264977:F1089I;ENSP00000419344:F353I;ENSP00000334748:F468I	ENSP00000264977:F1089I	F	+	1	0	PPP2R3A	137307790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.499000	0.81566	2.299000	0.77371	0.528000	0.53228	TTT		0.448	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		A	135825100	T	A	135825100	3	1	354	1	0	0	0	0	1	0	0	0	12391	1725	60	5	3447	5	PPP2R3A	3	135825100	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	12995289	135825100	62197330	22	19315											
HTR3D	200909	genome.wustl.edu	37	3	183754282	183754282	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr3:183754282C>A	ENST00000382489.3	+	4	500	c.500C>A	c.(499-501)tCc>tAc	p.S167Y	HTR3D_ENST00000428798.2_Missense_Mutation_p.S106Y|HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000334128.2_Missense_Mutation_p.S32Y	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	167					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.S167F(1)|p.S32F(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	ATTTCCCCTTCCATGGACAGA	0.488																																																2	Substitution - Missense(2)	lung(2)	3											147	116	127					3																	183754282		2203	4300	6503	185236976	SO:0001583	missense	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.500C>A	3.37:g.183754282C>A	ENSP00000371929:p.Ser167Tyr		185236976	C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	c	4.071	0.011030	0.07912	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489	T;T;T	0.78481	-0.88;-1.1;-1.18	4.98	1.39	0.22231	Neurotransmitter-gated ion-channel ligand-binding (1);	2.354890	0.01771	U	0.031160	T	0.64972	0.2647	N	0.08118	0	0.80722	D	1	D;D;D	0.59767	0.98;0.969;0.986	P;P;P	0.51135	0.629;0.656;0.66	T	0.67389	-0.5683	10	0.02654	T	1	-2.3888	7.3104	0.26471	0.0:0.2773:0.0:0.7227	.	167;32;32	Q70Z44;Q70Z44-2;F6WC43	5HT3D_HUMAN;.;.	Y	32;106;167	ENSP00000334315:S32Y;ENSP00000405409:S106Y;ENSP00000371929:S167Y	ENSP00000334315:S32Y	S	+	2	0	HTR3D	185236976	0.991000	0.36638	0.976000	0.42696	0.578000	0.36192	0.128000	0.15810	0.149000	0.19098	-0.310000	0.09108	TCC		0.488	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		A	183754282	C	A	183754282	3	1	354	1	0	0	0	0	1	0	0	0	7447	855	30	3	611	3	HTR3D	3	183754282	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	47929182	183754282	14268148	23	19316											
MOBKL1A	92597	genome.wustl.edu	37	4	71840950	71840950	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr4:71840950T>C	ENST00000309395.2	+	4	557	c.356T>C	c.(355-357)aTg>aCg	p.M119T	MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Missense_Mutation_p.M124T	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	119					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										GATTACTTGATGACTTGGGTT	0.343																																																0			4											109	110	110					4																	71840950		2203	4300	6503	72059814	SO:0001583	missense	92597			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"MOB kinase activators"	29801	protein-coding gene	gene with protein product	"Mob4A protein"	609282	"MOB1, Mps One Binder kinase activator-like 1A (yeast)", "MOB1 Mps One Binder homolog B (yeast)"	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.356T>C	4.37:g.71840950T>C	ENSP00000310189:p.Met119Thr		72059814	B2R8U6|B4DRY3|Q8IY23	Missense_Mutation	SNP	ENST00000309395.2	37	CCDS34002.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608245	0.87258	.	.	ENSG00000173542	ENST00000502869;ENST00000309395;ENST00000396051	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.997;1.0	D	0.90527	0.4493	9	0.87932	D	0	-15.107	16.5763	0.84648	0.0:0.0:0.0:1.0	.	124;119;119	B4DRY3;Q7L9L4;B3KSH6	.;MOB1B_HUMAN;.	T	124;119;124	.	ENSP00000310189:M119T	M	+	2	0	MOBKL1A	72059814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.887000	0.87295	2.317000	0.78254	0.459000	0.35465	ATG		0.343	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468		C	71840950	T	C	71840950	3	2	354	1	0	0	0	0	1	0	0	0	9682	1464	51	4	370	4	MOBKL1A	4	71840950	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09		71840950	119313326	24	19317											
KLHL8	57563	genome.wustl.edu	37	4	88091765	88091765	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr4:88091765C>A	ENST00000273963.5	-	7	1552	c.1211G>T	c.(1210-1212)cGa>cTa	p.R404L	KLHL8_ENST00000512111.1_Missense_Mutation_p.R404L|KLHL8_ENST00000425278.2_Missense_Mutation_p.R221L|KLHL8_ENST00000545252.1_Missense_Mutation_p.R53L|KLHL8_ENST00000498875.2_Missense_Mutation_p.R328L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	404					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.R404Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GGCAATTCCTCGCCTGCAAAG	0.348																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	4											75	65	68					4																	88091765		2203	4300	6503	88310789	SO:0001583	missense	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1211G>T	4.37:g.88091765C>A	ENSP00000273963:p.Arg404Leu		88310789	Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138998	0.94560	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.54	5.54	0.83059	Galactose oxidase, beta-propeller (1);	0.052408	0.85682	D	0.000000	D	0.85323	0.5670	L	0.47016	1.485	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.981;0.996;0.997	D	0.84169	0.0433	10	0.42905	T	0.14	.	19.4987	0.95085	0.0:1.0:0.0:0.0	.	221;328;404	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	L	404;328;221;53;404	ENSP00000273963:R404L;ENSP00000426451:R328L;ENSP00000408854:R221L;ENSP00000439514:R53L;ENSP00000424131:R404L	ENSP00000273963:R404L	R	-	2	0	KLHL8	88310789	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.437000	0.80417	2.609000	0.88269	0.460000	0.39030	CGA		0.348	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			A	88091765	C	A	88091765	3	1	354	1	0	0	0	0	1	0	0	0	8395	884	31	3	667	3	KLHL8	4	88091765	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	16250815	88091765	103062511	25	19318											
SORBS2	8470	genome.wustl.edu	37	4	186573818	186573818	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr4:186573818G>A	ENST00000284776.7	-	7	841	c.332C>T	c.(331-333)cCg>cTg	p.P111L	SORBS2_ENST00000393528.3_Missense_Mutation_p.P157L|SORBS2_ENST00000418609.1_Missense_Mutation_p.P30L|SORBS2_ENST00000449407.2_Missense_Mutation_p.P197L|SORBS2_ENST00000355634.5_Missense_Mutation_p.P211L|SORBS2_ENST00000319471.9_Missense_Mutation_p.P197L|SORBS2_ENST00000437304.2_Missense_Mutation_p.P290L|SORBS2_ENST00000431808.1_Missense_Mutation_p.P111L|SORBS2_ENST00000448662.2_Missense_Mutation_p.P180L|SORBS2_ENST00000498125.1_5'UTR	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	111	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGACATACCCGGCTTGTGCAC	0.483																																					Esophageal Squamous(153;41 2433 9491 36028)											0			4											248	196	213					4																	186573818		2203	4300	6503	186810812	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.332C>T	4.37:g.186573818G>A	ENSP00000284776:p.Pro111Leu		186810812	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.33|19.33	3.807156|3.807156	0.70797|0.70797	.|.	.|.	ENSG00000154556|ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454|ENST00000445625	T;T;T;T;T;T;T;T;T;T|.	0.36878|.	1.33;1.52;1.33;1.65;1.23;1.29;1.65;1.32;1.65;1.47|.	5.16|5.16	4.31|4.31	0.51392|0.51392	Sorbin-like (3);|.	0.201057|.	0.53938|.	D|.	0.000051|.	T|T	0.56514|0.56514	0.1990|0.1990	L|L	0.34521|0.34521	1.04|1.04	0.37872|0.37872	D|D	0.930094|0.930094	P;P;P;P;P;P;D;P;P;P;B;B;P;P;P;P|.	0.63046|.	0.711;0.786;0.5;0.939;0.818;0.786;0.992;0.782;0.939;0.939;0.404;0.415;0.489;0.919;0.786;0.786|.	P;B;B;P;B;B;P;B;P;P;B;B;B;P;B;B|.	0.60236|.	0.487;0.408;0.064;0.804;0.35;0.355;0.871;0.343;0.804;0.804;0.3;0.181;0.212;0.522;0.247;0.355|.	T|T	0.58651|0.58651	-0.7599|-0.7599	10|5	0.87932|.	D|.	0|.	-26.7084|-26.7084	16.1565|16.1565	0.81673|0.81673	0.0:0.1336:0.8664:0.0|0.0:0.1336:0.8664:0.0	.|.	174;157;180;30;30;30;30;157;211;111;197;290;180;157;111;157|.	B7Z3D7;G3XAI0;C9JKV9;B7Z3X6;B7Z997;O94875-6;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2|.	.;.;.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.|.	L|W	111;180;111;30;290;197;197;211;157;157|9	ENSP00000284776:P111L;ENSP00000409158:P180L;ENSP00000411764:P111L;ENSP00000397482:P30L;ENSP00000396008:P290L;ENSP00000322182:P197L;ENSP00000397262:P197L;ENSP00000347852:P211L;ENSP00000377162:P157L;ENSP00000321983:P157L|.	ENSP00000284776:P111L|.	P|R	-|-	2|1	0|2	SORBS2|SORBS2	186810812|186810812	1.000000|1.000000	0.71417|0.71417	0.898000|0.898000	0.35279|0.35279	0.309000|0.309000	0.27889|0.27889	7.371000|7.371000	0.79600|0.79600	1.521000|1.521000	0.48983|0.48983	-0.176000|-0.176000	0.13171|0.13171	CCG|CGG		0.483	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		A	186573818	G	A	186573818	3	1	354	1	0	0	0	0	1	0	0	0	14931	1116	39	1	3342	1	SORBS2	4	186573818	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	98482053	186573818	4580458	26	19319											
ISCA1P1	389293	genome.wustl.edu	37	5	62072856	62072856	+	IGR	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr5:62072856G>A								IPO11 (148447 upstream) : None (None downstream)																							ACTCCATCTTGAATAACTTCT	0.373																																																0			5											93	104	100					5																	62072856		2200	4298	6498	62108612	SO:0001628	intergenic_variant	389293																															5.37:g.62072856G>A			62108612		Nonsense_Mutation	SNP		37																																																																																				0	0.373									A	62072856	G	A	62072856	1	1	354	0	1	0	0	0	0	0	0	0	7850	1299	45	2		2	ISCA1P1	5	62072856	IGR	SNP	G	TCGA-29-1784-01A-02W-0633-09		62072856	118842404	27	19320											
ODZ2	57451	genome.wustl.edu	37	5	167673868	167673868	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr5:167673868C>A	ENST00000518659.1	+	27	5963	c.5924C>A	c.(5923-5925)tCc>tAc	p.S1975Y	TENM2_ENST00000519204.1_Missense_Mutation_p.S1854Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S1974Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S1736Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S1799Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1975					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CACAGCATGTCCACACACACC	0.537																																																0			5											139	146	144					5																	167673868		2119	4243	6362	167606446	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5924C>A	5.37:g.167673868C>A	ENSP00000429430:p.Ser1975Tyr		167606446	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	10.03	1.239171	0.22711	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90732	-2.25;-2.23;-2.35;-2.72;-2.71	5.35	4.48	0.54585	.	0.422638	0.28803	N	0.014098	T	0.81312	0.4796	N	0.08118	0	0.42909	D	0.994255	B;B;B	0.13145	0.007;0.001;0.002	B;B;B	0.12156	0.007;0.003;0.001	T	0.76658	-0.2878	10	0.52906	T	0.07	.	13.5451	0.61697	0.0:0.9251:0.0:0.0749	.	1974;1975;1736	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Y	1975;1974;1854;1736;1799	ENSP00000429430:S1975Y;ENSP00000438635:S1974Y;ENSP00000428964:S1854Y;ENSP00000427874:S1736Y;ENSP00000384905:S1799Y	ENSP00000384905:S1799Y	S	+	2	0	ODZ2	167606446	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.105000	0.50314	1.261000	0.44149	0.491000	0.48974	TCC		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167673868	C	A	167673868	3	1	354	1	0	0	0	0	1	0	0	0	10835	855	30	3	6003	3	ODZ2	5	167673868	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	105601012	167673868	13241392	28	19321											
BTN3A3	10384	genome.wustl.edu	37	6	26452478	26452478	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr6:26452478C>G	ENST00000244519.2	+	11	1837	c.1594C>G	c.(1594-1596)Ctg>Gtg	p.L532V	BTN3A3_ENST00000339789.4_Missense_Mutation_p.L490V|BTN3A3_ENST00000361232.3_Missense_Mutation_p.L483V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	532					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGATCATTCCCTGGAGACACC	0.537																																																0			6											55	54	54					6																	26452478		2203	4300	6503	26560457	SO:0001583	missense	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1594C>G	6.37:g.26452478C>G	ENSP00000244519:p.Leu532Val		26560457	B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	C	6.949	0.544865	0.13312	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.36699	1.32;1.25;1.24	1.91	-0.244	0.13031	.	.	.	.	.	T	0.04770	0.0129	N	0.24115	0.695	0.09310	N	1	P;P	0.51933	0.949;0.949	B;B	0.31245	0.126;0.126	T	0.22521	-1.0214	9	0.30078	T	0.28	.	1.8728	0.03212	0.3299:0.4505:0.0:0.2196	.	483;532	E9PCP5;O00478	.;BT3A3_HUMAN	V	532;490;483	ENSP00000244519:L532V;ENSP00000344968:L490V;ENSP00000355238:L483V	ENSP00000244519:L532V	L	+	1	2	BTN3A3	26560457	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-0.591000	0.05753	0.053000	0.16036	0.455000	0.32223	CTG		0.537	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		G	26452478	C	G	26452478	3	3	354	1	0	0	0	0	1	0	0	0	1564	680	24	3	1628	3	BTN3A3	6	26452478	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09		26452478	144662589	29	19322											
HIST1H2AM	8336	genome.wustl.edu	37	6	27860667	27860667	+	Silent	SNP	G	G	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr6:27860667G>T	ENST00000359611.2	-	1	296	c.261C>A	c.(259-261)gcC>gcA	p.A87A	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	87						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CGTTGCGGATGGCCAGCTGCA	0.597																																																0			6											132	132	132					6																	27860667		2203	4300	6503	27968646	SO:0001819	synonymous_variant	8336			X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.261C>A	6.37:g.27860667G>T			27968646	P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359611.2	37	CCDS4639.1																																																																																				0.597	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		T	27860667	G	T	27860667	2	4	354	1	0	0	0	0	0	0	0	1	7139	1335	47	3		3	HIST1H2AM	6	27860667	Silent	SNP	G	TCGA-29-1784-01A-02W-0633-09	1408189	27860667	143254400	30	19323											
HSPA1L	3305	genome.wustl.edu	37	6	31779217	31779217	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr6:31779217G>C	ENST00000375654.4	-	2	722	c.533C>G	c.(532-534)cCc>cGc	p.P178R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.P178R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	178					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGCAGCCGTGGGCTCATTGAT	0.458																																																0			6											99	87	91					6																	31779217		2203	4300	6503	31887196	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.533C>G	6.37:g.31779217G>C	ENSP00000364805:p.Pro178Arg		31887196	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195234	0.58017	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.08634	3.07;3.07	4.66	4.66	0.58398	.	.	.	.	.	T	0.48259	0.1490	H	0.99975	5.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75351	-0.3348	9	0.87932	D	0	.	15.0885	0.72174	0.0:0.0:1.0:0.0	.	178	P34931	HS71L_HUMAN	R	178;178;123;68	ENSP00000364805:P178R;ENSP00000387691:P178R	ENSP00000364804:P123R	P	-	2	0	HSPA1L	31887196	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.626000	0.98410	2.410000	0.81850	0.460000	0.39030	CCC		0.458	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			C	31779217	G	C	31779217	3	2	354	1	0	0	0	0	1	0	0	0	7410	1232	43	3	1396	3	HSPA1L	6	31779217	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	3918550	31779217	139335850	31	19324											
EHMT2	10919	genome.wustl.edu	37	6	31864480	31864480	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr6:31864480C>A	ENST00000375537.4	-	3	237	c.231G>T	c.(229-231)gaG>gaT	p.E77D	EHMT2_ENST00000480912.1_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.E134D|EHMT2_ENST00000375530.4_Missense_Mutation_p.E77D|EHMT2_ENST00000395728.3_Missense_Mutation_p.E134D|C2_ENST00000469372.1_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	77					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGTCAGCCCCCTCATCACCAA	0.622																																																0			6											64	79	73					6																	31864480		1511	2709	4220	31972459	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.231G>T	6.37:g.31864480C>A	ENSP00000364687:p.Glu77Asp		31972459	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	c	12.07	1.828263	0.32329	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	2.98	2.1	0.27182	.	0.814520	0.10148	N	0.710032	T	0.04952	0.0133	N	0.08118	0	0.23636	N	0.997235	B;P;B;B	0.37500	0.013;0.597;0.023;0.013	B;B;B;B	0.33960	0.01;0.173;0.005;0.002	T	0.20907	-1.0261	10	0.17832	T	0.49	.	4.4327	0.11535	0.0:0.6341:0.233:0.1329	.	134;77;77;77	A2ABF8;Q96KQ7-3;Q96KQ7-2;Q96KQ7	.;.;.;EHMT2_HUMAN	D	134;134;77;77	ENSP00000379078:E134D;ENSP00000364678:E134D;ENSP00000364680:E77D;ENSP00000364687:E77D	ENSP00000364678:E134D	E	-	3	2	EHMT2	31972459	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.073000	0.41519	0.822000	0.34565	0.556000	0.70494	GAG		0.622	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31864480	C	A	31864480	3	1	354	1	0	0	0	0	1	0	0	0	4984	680	24	3	3505	3	EHMT2	6	31864480	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	85263	31864480	139250587	32	19325											
USP49	25862	genome.wustl.edu	37	6	41766497	41766497	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr6:41766497C>T	ENST00000394253.3	-	6	2170	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E	USP49_ENST00000297229.2_Missense_Mutation_p.G614E|USP49_ENST00000373006.1_Missense_Mutation_p.G614E|USP49_ENST00000373010.1_Intron|USP49_ENST00000373009.3_Missense_Mutation_p.G614E			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	614	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTGTAGTGTCCTGAGCCAAA	0.522																																																0			6											197	162	173					6																	41766497		2203	4300	6503	41874475	SO:0001583	missense	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1841G>A	6.37:g.41766497C>T	ENSP00000377797:p.Gly614Glu		41874475	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	C	34	5.398735	0.96030	.	.	ENSG00000164663	ENST00000394253;ENST00000373009;ENST00000373006;ENST00000297229	T;T;D;D	0.97505	0.42;0.42;-4.41;-4.41	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98503	1.0615	10	0.87932	D	0	-10.0321	20.4745	0.99168	0.0:1.0:0.0:0.0	.	614	Q70CQ1-2	.	E	614	ENSP00000377797:G614E;ENSP00000362100:G614E;ENSP00000362097:G614E;ENSP00000297229:G614E	ENSP00000297229:G614E	G	-	2	0	USP49	41874475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA		0.522	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		T	41766497	C	T	41766497	3	4	354	1	0	0	0	0	1	0	0	0	17080	855	30	2	85	2	USP49	6	41766497	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	9902017	41766497	129348570	33	19326											
TCTE1	202500	genome.wustl.edu	37	6	44255366	44255366	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr6:44255366G>A	ENST00000371505.4	-	2	319	c.197C>T	c.(196-198)gCt>gTt	p.A66V	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	66										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGATCCTCAGCAATGATCCG	0.547																																																0			6											129	113	119					6																	44255366		2203	4300	6503	44363344	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.197C>T	6.37:g.44255366G>A	ENSP00000360560:p.Ala66Val		44363344	B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389474	0.61956	.	.	ENSG00000146221	ENST00000371505	T	0.34072	1.38	5.49	5.49	0.81192	.	0.234157	0.41938	D	0.000784	T	0.25306	0.0615	M	0.61703	1.905	0.80722	D	1	P	0.48294	0.908	B	0.40285	0.325	T	0.04976	-1.0914	10	0.38643	T	0.18	-13.5639	14.6353	0.68686	0.0722:0.0:0.9278:0.0	.	66	Q5JU00	TCTE1_HUMAN	V	66	ENSP00000360560:A66V	ENSP00000360560:A66V	A	-	2	0	TCTE1	44363344	0.998000	0.40836	0.909000	0.35828	0.870000	0.49936	5.776000	0.68924	2.585000	0.87301	0.404000	0.27445	GCT		0.547	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		A	44255366	G	A	44255366	3	1	354	1	0	0	0	0	1	0	0	0	15717	971	34	2	1324	2	TCTE1	6	44255366	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	2488869	44255366	126859701	34	19327											
FAM83B	222584	genome.wustl.edu	37	6	54805146	54805146	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr6:54805146G>T	ENST00000306858.7	+	5	1493	c.1377G>T	c.(1375-1377)agG>agT	p.R459S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	459										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAGACAGGAATTCAAATG	0.458																																																0			6											61	64	63					6																	54805146		2203	4300	6503	54913105	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1377G>T	6.37:g.54805146G>T	ENSP00000304078:p.Arg459Ser		54913105	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642242	0.47153	.	.	ENSG00000168143	ENST00000306858	T	0.17691	2.26	5.56	-0.235	0.13071	.	0.120151	0.64402	D	0.000018	T	0.22126	0.0533	M	0.74881	2.28	0.48288	D	0.999627	D	0.89917	1.0	D	0.83275	0.996	T	0.05305	-1.0893	10	0.29301	T	0.29	-25.1974	9.5521	0.39317	0.5378:0.0:0.4622:0.0	.	459	Q5T0W9	FA83B_HUMAN	S	459	ENSP00000304078:R459S	ENSP00000304078:R459S	R	+	3	2	FAM83B	54913105	1.000000	0.71417	0.998000	0.56505	0.672000	0.39443	1.303000	0.33470	0.038000	0.15604	-0.137000	0.14449	AGG		0.458	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		T	54805146	G	T	54805146	3	4	354	1	0	0	0	0	1	0	0	0	5634	1165	41	3	1391	3	FAM83B	6	54805146	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	10549780	54805146	116309921	35	19328											
DGKB	1607	genome.wustl.edu	37	7	14741333	14741333	+	Silent	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr7:14741333C>T	ENST00000403951.2	-	7	908	c.489G>A	c.(487-489)acG>acA	p.T163T	DGKB_ENST00000444700.2_Silent_p.T156T|DGKB_ENST00000402815.1_Silent_p.T163T|DGKB_ENST00000407950.1_Silent_p.T156T|DGKB_ENST00000399322.3_Silent_p.T163T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Silent_p.T163T|DGKB_ENST00000258767.5_Silent_p.T163T			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	163	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CATTCCCATCCGTGTCATAAA	0.308																																																0			7											84	82	83					7																	14741333		1834	4081	5915	14707858	SO:0001819	synonymous_variant	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.489G>A	7.37:g.14741333C>T			14707858	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	CCDS47547.1																																																																																				0.308	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		T	14741333	C	T	14741333	2	4	354	1	0	0	0	0	0	0	0	1	4466	639	23	1		1	DGKB	7	14741333	Silent	SNP	C	TCGA-29-1784-01A-02W-0633-09		14741333	144397330	36	19329											
FAM126A	84668	genome.wustl.edu	37	7	23017921	23017921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr7:23017921G>T	ENST00000432176.2	-	4	532	c.300C>A	c.(298-300)tgC>tgA	p.C100*	FAM126A_ENST00000409763.1_Nonsense_Mutation_p.C100*|FAM126A_ENST00000409923.1_Nonsense_Mutation_p.C100*	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	100					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						GAGCTTCAATGCATCCACTGC	0.388																																																0			7											83	77	79					7																	23017921		2203	4300	6503	22984446	SO:0001587	stop_gained	84668			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.300C>A	7.37:g.23017921G>T	ENSP00000403396:p.Cys100*		22984446	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Nonsense_Mutation	SNP	ENST00000432176.2	37	CCDS5377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.459266|4.459266	0.84317|0.84317	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000440481|ENST00000432176;ENST00000409923;ENST00000409763	.|.	.|.	.|.	5.86|5.86	4.02|4.02	0.46733|0.46733	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47451|.	0.1446|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22626|.	-1.0211|.	4|.	.|0.13470	.|T	.|0.59	-15.3136|-15.3136	9.2527|9.2527	0.37564|0.37564	0.2903:0.0:0.7097:0.0|0.2903:0.0:0.7097:0.0	.|.	.|.	.|.	.|.	E|X	152|100	.|.	.|ENSP00000386624:C100X	A|C	-|-	2|3	0|2	FAM126A|FAM126A	22984446|22984446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.499000|2.499000	0.45372|0.45372	0.781000|0.781000	0.33589|0.33589	0.585000|0.585000	0.79938|0.79938	GCA|TGC		0.388	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		T	23017921	G	T	23017921	4	4	354	1	0	0	0	0	0	1	0	0	5429	1311	46	3	1297	3	FAM126A	7	23017921	Nonsense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	8276588	23017921	136120742	37	19330											
NPSR1	387129	genome.wustl.edu	37	7	34698124	34698124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr7:34698124G>T	ENST00000360581.1	+	1	228	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381539.3_Nonsense_Mutation_p.E34*|NPSR1_ENST00000531252.1_Nonsense_Mutation_p.E34*|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000465305.1_Nonsense_Mutation_p.E34*|NPSR1_ENST00000381553.3_Nonsense_Mutation_p.E34*|NPSR1_ENST00000381542.1_Nonsense_Mutation_p.E34*|NPSR1_ENST00000359791.1_Nonsense_Mutation_p.E34*	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	34						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GACTTTTACTGAAGTGGTGGA	0.498																																																0			7											120	115	117					7																	34698124		2203	4300	6503	34664649	SO:0001587	stop_gained	387129			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.100G>T	7.37:g.34698124G>T	ENSP00000353788:p.Glu34*		34664649	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Nonsense_Mutation	SNP	ENST00000360581.1	37	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	G	36	5.945785	0.97134	.	.	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	.	.	.	4.39	2.55	0.30701	.	0.228718	0.29995	N	0.010674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.3714	6.0852	0.19962	0.1041:0.1915:0.7044:0.0	.	.	.	.	X	34	.	ENSP00000352839:E34X	E	+	1	0	NPSR1	34664649	0.995000	0.38212	0.236000	0.24074	0.989000	0.77384	2.021000	0.41020	0.568000	0.29311	0.561000	0.74099	GAA		0.498	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		T	34698124	G	T	34698124	4	4	354	1	0	0	0	0	0	1	0	0	10600	1291	45	3	102	3	NPSR1	7	34698124	Nonsense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	11680203	34698124	124440539	38	19331											
AKAP9	10142	genome.wustl.edu	37	7	91731967	91731967	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr7:91731967G>C	ENST00000359028.2	+	46	11394	c.11169G>C	c.(11167-11169)aaG>aaC	p.K3723N	AKAP9_ENST00000356239.3_Missense_Mutation_p.K3719N|AKAP9_ENST00000358100.2_Missense_Mutation_p.K3669N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3723					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTACCAGAAGAAATACCTGC	0.453			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0			7											87	91	89					7																	91731967		2203	4300	6503	91569903	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11169G>C	7.37:g.91731967G>C	ENSP00000351922:p.Lys3723Asn		91569903	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	15.00	2.702994	0.48412	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.24723	1.98;2.01;2.07;1.84	5.32	2.54	0.30619	Pericentrin/AKAP-450 centrosomal targeting domain (1);	0.000000	0.39407	N	0.001365	T	0.52175	0.1718	M	0.87456	2.885	0.50632	D	0.999889	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999	T	0.54715	-0.8252	10	0.87932	D	0	.	9.9004	0.41344	0.2873:0.0:0.7127:0.0	.	994;3723;3723;3719;3711	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	N	3719;3723;3669;3723;1565	ENSP00000348573:K3719N;ENSP00000351922:K3723N;ENSP00000350813:K3669N;ENSP00000378042:K1565N	ENSP00000348573:K3719N	K	+	3	2	AKAP9	91569903	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.452000	0.60054	0.383000	0.24910	-0.237000	0.12165	AAG		0.453	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		C	91731967	G	C	91731967	3	2	354	1	0	0	0	0	1	0	0	0	459	933	33	3	11339	3	AKAP9	7	91731967	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	57033843	91731967	67406696	39	19332											
ATP5J2	9551	genome.wustl.edu	37	7	99056849	99056849	+	Silent	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr7:99056849C>T	ENST00000292475.3	-	3	366	c.177G>A	c.(175-177)aaG>aaA	p.K59K	ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000488775.1_Intron|ATP5J2_ENST00000394186.3_Silent_p.K53K|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000359832.4_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000449683.1_Silent_p.K63K|PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000544611.1_Silent_p.K53K	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	59					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)			large_intestine(1)|ovary(1)	2	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGCTCCCCTTCTTCACATTGA	0.517											OREG0018190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			7											159	115	130					7																	99056849		2203	4300	6503	98894785	SO:0001819	synonymous_variant	9551			AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	848	protein-coding gene	gene with protein product	"F1Fo-ATPase synthase f subunit", "ATP synthase f chain, mitochondrial", "F1Fo-ATP synthase complex Fo membrane domain f subunit"		"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.177G>A	7.37:g.99056849C>T		1340	98894785	C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Silent	SNP	ENST00000292475.3	37	CCDS5665.1																																																																																				0.517	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336263.1	NM_004889		T	99056849	C	T	99056849	2	4	354	1	0	0	0	0	0	0	0	1	1159	912	32	2		2	ATP5J2	7	99056849	Silent	SNP	C	TCGA-29-1784-01A-02W-0633-09	7324882	99056849	60081814	40	19333											
DOCK4	9732	genome.wustl.edu	37	7	111487070	111487070	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr7:111487070G>C	ENST00000437633.1	-	24	2842	c.2586C>G	c.(2584-2586)atC>atG	p.I862M	DOCK4_ENST00000428084.1_Missense_Mutation_p.I862M	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	862					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TATTTTTCTTGATAAGACAAA	0.388																																																0			7											119	117	117					7																	111487070		1883	4108	5991	111274306	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2586C>G	7.37:g.111487070G>C	ENSP00000404179:p.Ile862Met		111274306	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.519496|2.519496	0.44866|0.44866	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943	T;T|.	0.66815|.	-0.23;-0.23|.	6.03|6.03	5.14|5.14	0.70334|0.70334	.|.	0.147481|.	0.64402|.	D|.	0.000011|.	T|.	0.69424|.	0.3109|.	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	B;B;B|.	0.24258|.	0.061;0.061;0.1|.	B;B;B|.	0.28991|.	0.045;0.045;0.097|.	T|.	0.68191|.	-0.5474|.	10|.	0.62326|.	D|.	0.03|.	.|.	14.978|14.978	0.71289|0.71289	0.0:0.0:0.7401:0.2599|0.0:0.0:0.7401:0.2599	.|.	862;862;862|.	Q149N5;Q8N1I0;Q8N1I0-2|.	.;DOCK4_HUMAN;.|.	M|X	850;862;862;850;861|314;850	ENSP00000410746:I862M;ENSP00000404179:I862M|.	ENSP00000345432:I850M|.	I|S	-|-	3|2	3|0	DOCK4|DOCK4	111274306|111274306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.288000|4.288000	0.59007|0.59007	1.534000|1.534000	0.49203|0.49203	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.388	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		C	111487070	G	C	111487070	3	2	354	1	0	0	0	0	1	0	0	0	4689	1280	45	3	3430	3	DOCK4	7	111487070	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	12430221	111487070	47651593	41	19334											
PPP1R3A	5506	genome.wustl.edu	37	7	113520112	113520112	+	Silent	SNP	A	A	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr7:113520112A>G	ENST00000284601.3	-	4	1103	c.1035T>C	c.(1033-1035)gaT>gaC	p.D345D		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	345					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AATTGACTGGATCTGTTGAAA	0.348																																																0			7											151	150	150					7																	113520112		2203	4299	6502	113307348	SO:0001819	synonymous_variant	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1035T>C	7.37:g.113520112A>G			113307348	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	CCDS5759.1																																																																																				0.348	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		G	113520112	A	G	113520112	2	3	354	1	0	0	0	0	0	0	0	1	12374	330	12	4		4	PPP1R3A	7	113520112	Silent	SNP	A	TCGA-29-1784-01A-02W-0633-09	2033042	113520112	45618551	42	19335											
OR2F2	135948	genome.wustl.edu	37	7	143632560	143632560	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr7:143632560C>T	ENST00000408955.2	+	1	302	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AAGCGTAGTCCCCCAGCTGCT	0.512																																																0			7											225	218	220					7																	143632560		2203	4300	6503	143263493	SO:0001583	missense	135948				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.235C>T	7.37:g.143632560C>T	ENSP00000386222:p.Pro79Ser		143263493	A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464725	0.43736	.	.	ENSG00000221910	ENST00000408955	T	0.20332	2.08	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000091	T	0.59742	0.2216	H	0.97758	4.07	0.49130	D	0.999757	D	0.89917	1.0	D	0.87578	0.998	T	0.74881	-0.3513	10	0.87932	D	0	-29.3816	12.8566	0.57888	0.0:1.0:0.0:0.0	.	79	O95006	OR2F2_HUMAN	S	79	ENSP00000386222:P79S	ENSP00000386222:P79S	P	+	1	0	OR2F2	143263493	1.000000	0.71417	0.941000	0.38009	0.052000	0.14988	7.545000	0.82128	1.937000	0.56155	0.491000	0.48974	CCC		0.512	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			T	143632560	C	T	143632560	3	4	354	1	0	0	0	0	1	0	0	0	10997	623	22	2	237	2	OR2F2	7	143632560	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	30112448	143632560	15506103	43	19336											
PRKAG2	51422	genome.wustl.edu	37	7	151269791	151269791	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr7:151269791T>A	ENST00000287878.4	-	9	1514	c.1010A>T	c.(1009-1011)cAg>cTg	p.Q337L	PRKAG2_ENST00000392801.2_Missense_Mutation_p.Q293L|PRKAG2_ENST00000433631.2_Missense_Mutation_p.Q212L|PRKAG2_ENST00000418337.2_Missense_Mutation_p.Q96L|PRKAG2_ENST00000492843.1_Missense_Mutation_p.Q213L	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	337					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TTCATAAATCTGTACCTGCaa	0.259																																																0			7											63	62	62					7																	151269791		2201	4293	6494	150900724	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1010A>T	7.37:g.151269791T>A	ENSP00000287878:p.Gln337Leu		150900724	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588162	0.66105	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801;ENST00000476632	D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	5.15	5.15	0.70609	Aldolase-type TIM barrel (1);	0.106954	0.64402	D	0.000003	D	0.89136	0.6629	M	0.79805	2.47	0.80722	D	1	B;P	0.36990	0.246;0.577	B;B	0.25987	0.045;0.065	D	0.89683	0.3892	10	0.56958	D	0.05	.	14.2372	0.65934	0.0:0.0:0.0:1.0	.	212;337	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	L	96;337;213;212;293;96	ENSP00000387386:Q96L;ENSP00000287878:Q337L;ENSP00000419577:Q213L;ENSP00000406544:Q212L;ENSP00000376549:Q293L;ENSP00000419493:Q96L	ENSP00000287878:Q337L	Q	-	2	0	PRKAG2	150900724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.727000	0.84838	1.944000	0.56390	0.529000	0.55759	CAG		0.259	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		A	151269791	T	A	151269791	3	1	354	1	0	0	0	0	1	0	0	0	12504	1580	55	5	731	5	PRKAG2	7	151269791	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	7637231	151269791	7868872	44	19337											
RP1	6101	genome.wustl.edu	37	8	55533657	55533657	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr8:55533657G>A	ENST00000220676.1	+	2	279	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	44	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACAAGAGCGGAGACCCCCAA	0.542																																					Colon(91;1014 1389 7634 14542 40420)											0			8											106	96	99					8																	55533657		2203	4300	6503	55696210	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.131G>A	8.37:g.55533657G>A	ENSP00000220676:p.Gly44Glu		55696210		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026910	0.93518	.	.	ENSG00000104237	ENST00000220676	D	0.95272	-3.66	5.34	5.34	0.76211	Doublecortin domain (4);	0.000000	0.56097	D	0.000023	D	0.98166	0.9394	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99246	1.0886	10	0.87932	D	0	-18.28	19.0468	0.93022	0.0:0.0:1.0:0.0	.	44	P56715	RP1_HUMAN	E	44	ENSP00000220676:G44E	ENSP00000220676:G44E	G	+	2	0	RP1	55696210	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.790000	0.99075	2.498000	0.84270	0.650000	0.86243	GGA		0.542	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55533657	G	A	55533657	3	1	354	1	0	0	0	0	1	0	0	0	13535	1174	41	2	133	2	RP1	8	55533657	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09		55533657	90830365	45	19338											
E2F5	1875	genome.wustl.edu	37	8	86124416	86124416	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr8:86124416T>C	ENST00000416274.2	+	7	942	c.908T>C	c.(907-909)aTt>aCt	p.I303T	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.I304T|E2F5_ENST00000521429.1_Missense_Mutation_p.I130T|E2F5_ENST00000418930.2_Missense_Mutation_p.I302T|E2F5_ENST00000517476.1_Missense_Mutation_p.I142T	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	303	Transactivation. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GGAGATATCATTGATGAGTTA	0.289																																																0			8											97	94	95					8																	86124416		1829	4084	5913	86311668	SO:0001583	missense	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.908T>C	8.37:g.86124416T>C	ENSP00000398124:p.Ile303Thr		86311668	E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081852	0.55861	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.28	5.28	0.74379	.	0.049591	0.85682	D	0.000000	D	0.91570	0.7337	M	0.62723	1.935	0.58432	D	0.999999	D;P;P	0.67145	0.996;0.804;0.828	P;B;B	0.61477	0.889;0.184;0.219	D	0.89223	0.3572	10	0.13470	T	0.59	-16.6814	15.1973	0.73104	0.0:0.0:0.0:1.0	.	130;302;303	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	T	302;304;303;142;130;139	ENSP00000414312:I302T;ENSP00000256117:I304T;ENSP00000398124:I303T;ENSP00000429120:I142T;ENSP00000428606:I130T;ENSP00000429669:I139T	ENSP00000256117:I304T	I	+	2	0	E2F5	86311668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.084000	0.76866	1.979000	0.57680	0.482000	0.46254	ATT		0.289	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		C	86124416	T	C	86124416	3	2	354	1	0	0	0	0	1	0	0	0	4870	1493	52	4	934	4	E2F5	8	86124416	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	30590759	86124416	60239606	46	19339											
KCNV1	27012	genome.wustl.edu	37	8	110984496	110984496	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr8:110984496G>A	ENST00000524391.1	-	3	2014	c.982C>T	c.(982-984)Cat>Tat	p.H328Y	KCNV1_ENST00000297404.1_Missense_Mutation_p.H328Y|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	328					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCTGTGGAATGTCTGCCCAGC	0.502																																																0			8											63	61	62					8																	110984496		2203	4300	6503	111053672	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.982C>T	8.37:g.110984496G>A	ENSP00000435954:p.His328Tyr		111053672	Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685402	0.88639	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98437	-4.93;-4.93	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	N	0.25992	0.78	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.99857	1.1078	10	0.87932	D	0	.	19.3629	0.94448	0.0:0.0:1.0:0.0	.	328	Q6PIU1	KCNV1_HUMAN	Y	328;328;204	ENSP00000435954:H328Y;ENSP00000297404:H328Y	ENSP00000297404:H328Y	H	-	1	0	KCNV1	111053672	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	CAT		0.502	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		A	110984496	G	A	110984496	3	1	354	1	0	0	0	0	1	0	0	0	8094	1377	48	2	528	2	KCNV1	8	110984496	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	24860080	110984496	35379526	47	19340											
CSMD3	114788	genome.wustl.edu	37	8	113249508	113249508	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr8:113249508G>T	ENST00000297405.5	-	67	10782	c.10538C>A	c.(10537-10539)cCc>cAc	p.P3513H	CSMD3_ENST00000352409.3_Missense_Mutation_p.P3443H|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3473H|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3344H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3513						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGGTCATGGGTTGTTTCCT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											200	181	188					8																	113249508		2203	4300	6503	113318684	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10538C>A	8.37:g.113249508G>T	ENSP00000297405:p.Pro3513His		113318684	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454706	0.84209	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.32023	1.82;1.82;1.86;1.47;1.84	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	T	0.56426	0.1984	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.999;0.999;0.916	T	0.58194	-0.7679	10	0.52906	T	0.07	.	18.1948	0.89818	0.0:0.0:1.0:0.0	.	3344;3513;3473	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3473;3513;2783;3344;3443	ENSP00000345799:P3473H;ENSP00000297405:P3513H;ENSP00000341558:P2783H;ENSP00000412263:P3344H;ENSP00000343124:P3443H	ENSP00000297405:P3513H	P	-	2	0	CSMD3	113318684	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.630000	0.83225	2.514000	0.84764	0.467000	0.42956	CCC		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113249508	G	T	113249508	3	4	354	1	0	0	0	0	1	0	0	0	3946	1232	43	3	605	3	CSMD3	8	113249508	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	2265012	113249508	33114514	48	19341											
COL14A1	7373	genome.wustl.edu	37	8	121259903	121259903	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr8:121259903G>A	ENST00000297848.3	+	21	2801	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	COL14A1_ENST00000247781.3_Missense_Mutation_p.R749Q|COL14A1_ENST00000309791.4_Missense_Mutation_p.R844Q|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGTATAACCGGTTGCGCATT	0.458																																																0			8											103	90	94					8																	121259903		2203	4300	6503	121329084	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2531G>A	8.37:g.121259903G>A	ENSP00000297848:p.Arg844Gln		121329084		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270788	0.95429	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.07	5.07	0.68467	Fibronectin, type III (4);	0.056293	0.64402	D	0.000002	T	0.72534	0.3472	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.64042	0.921;0.736	T	0.73997	-0.3806	10	0.51188	T	0.08	.	19.3312	0.94288	0.0:0.0:1.0:0.0	.	844;844	Q05707-2;Q05707	.;COEA1_HUMAN	Q	844;844;749;657	ENSP00000311809:R844Q;ENSP00000297848:R844Q;ENSP00000247781:R749Q;ENSP00000409461:R657Q	ENSP00000247781:R749Q	R	+	2	0	COL14A1	121329084	1.000000	0.71417	0.967000	0.41034	0.921000	0.55340	9.139000	0.94554	2.745000	0.94114	0.462000	0.41574	CGG		0.458	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121259903	G	A	121259903	3	1	354	1	0	0	0	0	1	0	0	0	3671	1116	39	1	2609	1	COL14A1	8	121259903	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	8010395	121259903	25104119	49	19342											
SUSD1	64420	genome.wustl.edu	37	9	114840825	114840825	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr9:114840825C>G	ENST00000374270.3	-	12	1918	c.1746G>C	c.(1744-1746)caG>caC	p.Q582H	SUSD1_ENST00000374264.2_Missense_Mutation_p.Q582H|SUSD1_ENST00000374263.3_Missense_Mutation_p.Q582H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	582						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TACCTGTTATCTGGGTTGTCA	0.443																																																0			9											107	102	104					9																	114840825		2203	4300	6503	113880646	SO:0001583	missense	64420			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1746G>C	9.37:g.114840825C>G	ENSP00000363388:p.Gln582His		113880646	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.50|17.50	3.404957|3.404957	0.62288|0.62288	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.32515	.|1.45;1.45;1.45	4.87|4.87	2.92|2.92	0.33932|0.33932	.|.	.|0.158258	.|0.29980	.|N	.|0.010712	T|T	0.38665|0.38665	0.1049|0.1049	L|L	0.59436|0.59436	1.845|1.845	0.29584|0.29584	N|N	0.848931|0.848931	.|P;D;P	.|0.53885	.|0.874;0.963;0.895	.|P;P;P	.|0.55999	.|0.667;0.789;0.498	T|T	0.23332|0.23332	-1.0191|-1.0191	5|9	.|.	.|.	.|.	-3.937|-3.937	5.9674|5.9674	0.19332|0.19332	0.0:0.6991:0.197:0.1039|0.0:0.6991:0.197:0.1039	.|.	.|582;582;582	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	H|H	566|582	.|ENSP00000363388:Q582H;ENSP00000363381:Q582H;ENSP00000363382:Q582H	.|.	D|Q	-|-	1|3	0|2	SUSD1|SUSD1	113880646|113880646	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.670000|0.670000	0.25157|0.25157	1.130000|1.130000	0.42092|0.42092	0.580000|0.580000	0.79431|0.79431	GAT|CAG		0.443	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		G	114840825	C	G	114840825	3	3	354	1	0	0	0	0	1	0	0	0	15407	912	32	3	521	3	SUSD1	9	114840825	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09		114840825	26372606	50	19343											
MRC1	4360	genome.wustl.edu	37	10	18112237	18112237	+	Silent	SNP	T	T	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr10:18112237T>A	ENST00000239761.3	+	2	358	c.255T>A	c.(253-255)gcT>gcA	p.A85A		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	85	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						ACTGGGTTGCTATCACTCTCT	0.393																																					GBM(115;1153 1594 28187 28781 35884)											0			10											112	112	112					10																	18112237		1332	2789	4121	18152243	SO:0001819	synonymous_variant	4360			J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"CD molecules", "C-type lectin domain containing"	7228	protein-coding gene	gene with protein product		153618	"mannose receptor, C type 1-like 1"	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.255T>A	10.37:g.18112237T>A			18152243	A5PKW3|Q5VSJ2|Q5VSK2	Silent	SNP	ENST00000239761.3	37	CCDS7123.1																																																																																				0.393	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047057.1	NM_002438		A	18112237	T	A	18112237	2	1	354	1	0	0	0	0	0	0	0	1	9756	1509	53	5		5	MRC1	10	18112237	Silent	SNP	T	TCGA-29-1784-01A-02W-0633-09		18112237	117422510	51	19344											
KIAA1274	27143	genome.wustl.edu	37	10	72307186	72307186	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr10:72307186T>A	ENST00000263563.6	+	18	2514	c.2246T>A	c.(2245-2247)aTc>aAc	p.I749N		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	749						cytosol (GO:0005829)											GAGATCATCATCTGCACCTAC	0.647																																																0			10											96	75	82					10																	72307186		2203	4300	6503	71977192	SO:0001583	missense	27143			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2246T>A	10.37:g.72307186T>A	ENSP00000263563:p.Ile749Asn		71977192	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.77|19.77	3.888595|3.888595	0.72524|0.72524	.|.	.|.	ENSG00000107719|ENSG00000107719	ENST00000426268|ENST00000263563;ENST00000373214	.|T	.|0.36157	.|1.27	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40297|0.40297	0.1111|0.1111	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|P	.|0.44734	.|0.842	.|B	.|0.39419	.|0.299	T|T	0.52495|0.52495	-0.8568|-0.8568	5|10	.|0.87932	.|D	.|0	-27.9723|-27.9723	12.7978|12.7978	0.57567|0.57567	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|749	.|Q9ULE6	.|PALD_HUMAN	Q|N	129|749;725	.|ENSP00000263563:I749N	.|ENSP00000263563:I749N	H|I	+|+	3|2	2|0	KIAA1274|KIAA1274	71977192|71977192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.731000|7.731000	0.84895|0.84895	1.707000|1.707000	0.51288|0.51288	0.450000|0.450000	0.29827|0.29827	CAT|ATC		0.647	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		A	72307186	T	A	72307186	3	1	354	1	0	0	0	0	1	0	0	0	8220	1435	50	5	2312	5	KIAA1274	10	72307186	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	54194949	72307186	63227561	52	19345											
NEURL	9148	genome.wustl.edu	37	10	105330869	105330869	+	Splice_Site	SNP	A	A	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr10:105330869A>T	ENST00000369780.4	+	2	735	c.326A>T	c.(325-327)aAg>aTg	p.K109M	NEURL_ENST00000369777.2_Splice_Site_p.K92M	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		109	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTCAGGCTGAAGGTGGGCCTG	0.667																																																0			10											32	30	31					10																	105330869		2202	4298	6500	105320859	SO:0001630	splice_region_variant	9148																														ENST00000369780.4:c.327+1A>T	10.37:g.105330869A>T			105320859	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344280	0.82022	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386	.	.	.	5.23	5.23	0.72850	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78853	-0.2040	9	0.87932	D	0	-0.1418	15.1114	0.72359	1.0:0.0:0.0:0.0	.	109	O76050	NEU1A_HUMAN	M	109;92;92;34	.	ENSP00000358792:K92M	K	+	2	0	NEURL	105320859	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.824000	0.92023	1.957000	0.56846	0.459000	0.35465	AAG		0.667	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1		Missense_Mutation	T	105330869	A	T	105330869	5	4	354	1	0	0	0	0	0	0	1	0	10345	86	3	5	332	5	NEURL	10	105330869	Splice_Site	SNP	A	TCGA-29-1784-01A-02W-0633-09	33023683	105330869	30203878	53	19346											
TRIM44	54765	genome.wustl.edu	37	11	35685175	35685175	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr11:35685175G>C	ENST00000299413.5	+	1	823	c.516G>C	c.(514-516)gaG>gaC	p.E172D	RP1-276E15.1_ENST00000525573.2_lincRNA	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	172	Glu-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TGGAAGCAGAGAGAGTGGCCA	0.517																																																0			11											128	120	123					11																	35685175		2202	4298	6500	35641751	SO:0001583	missense	54765			BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19016	protein-coding gene	gene with protein product		612298	"tripartite motif-containing 44"				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.516G>C	11.37:g.35685175G>C	ENSP00000299413:p.Glu172Asp		35641751	D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	37	CCDS31461.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959694	0.34565	.	.	ENSG00000166326	ENST00000299413	T	0.35605	1.3	4.31	4.31	0.51392	.	0.000000	0.38326	N	0.001721	T	0.26738	0.0654	N	0.08118	0	0.24466	N	0.994417	D	0.67145	0.996	P	0.51701	0.677	T	0.09707	-1.0662	10	0.25106	T	0.35	-13.9191	12.4543	0.55695	0.0:0.0:1.0:0.0	.	172	Q96DX7	TRI44_HUMAN	D	172	ENSP00000299413:E172D	ENSP00000299413:E172D	E	+	3	2	TRIM44	35641751	1.000000	0.71417	0.999000	0.59377	0.044000	0.14063	0.779000	0.26746	2.375000	0.81037	0.655000	0.94253	GAG		0.517	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583		C	35685175	G	C	35685175	3	2	354	1	0	0	0	0	1	0	0	0	16519	933	33	3	518	3	TRIM44	11	35685175	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09		35685175	99321341	54	19347											
GANAB	23193	genome.wustl.edu	37	11	62397423	62397423	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr11:62397423C>G	ENST00000356638.3	-	14	1616	c.1600G>C	c.(1600-1602)Gct>Cct	p.A534P	GANAB_ENST00000540933.1_Missense_Mutation_p.A437P|GANAB_ENST00000346178.4_Missense_Mutation_p.A556P|GANAB_ENST00000534779.1_Missense_Mutation_p.A442P	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	534					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AGGTTGGGAGCTGAGCCCTGG	0.512																																					Melanoma(23;1005 1074 15747 18937)											0			11											82	73	76					11																	62397423		2202	4299	6501	62153999	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1600G>C	11.37:g.62397423C>G	ENSP00000349053:p.Ala534Pro		62153999	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226523	0.39300	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	4.99	0.343	0.16001	Glycoside hydrolase, superfamily (1);	0.488396	0.23129	N	0.051620	D	0.89546	0.6746	L	0.42008	1.315	0.29758	N	0.835778	B;B;B;B	0.29552	0.14;0.248;0.064;0.123	B;B;B;B	0.40101	0.319;0.319;0.063;0.037	D	0.83601	0.0128	10	0.72032	D	0.01	-2.3366	3.7565	0.08588	0.4686:0.3213:0.0:0.2101	.	420;442;534;556	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	P	556;534;442;437	ENSP00000340466:A556P;ENSP00000349053:A534P;ENSP00000435306:A442P;ENSP00000442962:A437P	ENSP00000340466:A556P	A	-	1	0	GANAB	62153999	0.979000	0.34478	0.957000	0.39632	0.998000	0.95712	1.450000	0.35134	-0.087000	0.12528	0.655000	0.94253	GCT		0.512	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		G	62397423	C	G	62397423	3	3	354	1	0	0	0	0	1	0	0	0	6233	797	28	3	1278	3	GANAB	11	62397423	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	26712248	62397423	72609093	55	19348											
FOLR1	2348	genome.wustl.edu	37	11	71906336	71906336	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr11:71906336G>A	ENST00000393679.1	+	3	626	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.A64T|FOLR1_ENST00000312293.4_Missense_Mutation_p.A64T|FOLR1_ENST00000393681.2_Missense_Mutation_p.A64T			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	64					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GAGGAAGAATGCCTGCTGTTC	0.532																																																0			11											103	95	98					11																	71906336		2200	4293	6493	71583984	SO:0001583	missense	2348			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.190G>A	11.37:g.71906336G>A	ENSP00000377284:p.Ala64Thr		71583984	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	19.49	3.837583	0.71373	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.66	-8.93	0.00771	Folate receptor-like (1);	0.413171	0.26224	N	0.025607	D	0.85379	0.5683	M	0.85710	2.77	0.24577	N	0.993898	D	0.63046	0.992	D	0.65773	0.938	D	0.83842	0.0258	10	0.62326	D	0.03	-12.9984	19.0893	0.93219	0.0:0.0:0.2489:0.7511	.	64	P15328	FOLR1_HUMAN	T	64	ENSP00000308137:A64T;ENSP00000377286:A64T;ENSP00000377284:A64T;ENSP00000377281:A64T	ENSP00000308137:A64T	A	+	1	0	FOLR1	71583984	0.778000	0.28640	0.004000	0.12327	0.812000	0.45895	0.988000	0.29616	-1.640000	0.01525	0.563000	0.77884	GCC		0.532	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		A	71906336	G	A	71906336	3	1	354	1	0	0	0	0	1	0	0	0	5981	1319	46	2	196	2	FOLR1	11	71906336	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	9508913	71906336	63100180	56	19349											
ERBB3	2065	genome.wustl.edu	37	12	56487326	56487326	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr12:56487326G>C	ENST00000267101.3	+	12	1912	c.1472G>C	c.(1471-1473)aGa>aCa	p.R491T	ERBB3_ENST00000415288.2_Missense_Mutation_p.R432T|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000553131.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	491					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CGGCCGCGCAGAGACTGCGGT	0.567																																																0			12											54	53	54					12																	56487326		2203	4300	6503	54773593	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1472G>C	12.37:g.56487326G>C	ENSP00000267101:p.Arg491Thr		54773593	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	5.574	0.290778	0.10567	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.76316	-1.01;-1.01	5.06	4.09	0.47781	.	0.278421	0.30620	N	0.009223	T	0.51719	0.1691	N	0.05124	-0.11	0.25821	N	0.984287	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23655	-1.0182	10	0.26408	T	0.33	.	5.0403	0.14456	0.2558:0.0:0.7442:0.0	.	491;491	B4DGQ7;P21860	.;ERBB3_HUMAN	T	491;432	ENSP00000267101:R491T;ENSP00000408340:R432T	ENSP00000267101:R491T	R	+	2	0	ERBB3	54773593	0.001000	0.12720	0.731000	0.30826	0.025000	0.11179	0.724000	0.25954	2.619000	0.88677	0.655000	0.94253	AGA		0.567	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			C	56487326	G	C	56487326	3	2	354	1	0	0	0	0	1	0	0	0	5208	942	33	3	1649	3	ERBB3	12	56487326	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09		56487326	77364569	57	19350											
ANAPC5	51433	genome.wustl.edu	37	12	121773425	121773425	+	Silent	SNP	T	T	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr12:121773425T>C	ENST00000261819.3	-	7	982	c.861A>G	c.(859-861)gaA>gaG	p.E287E	ANAPC5_ENST00000541887.1_Silent_p.E287E|ANAPC5_ENST00000536366.1_Silent_p.E166E|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Silent_p.E188E|ANAPC5_ENST00000441917.2_Silent_p.E188E	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	287					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACTTTTGCTTTCGGCTCCGG	0.473																																																0			12											127	123	124					12																	121773425		2203	4300	6503	120257808	SO:0001819	synonymous_variant	51433			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.861A>G	12.37:g.121773425T>C			120257808	E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	ENST00000261819.3	37	CCDS9220.1																																																																																				0.473	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			C	121773425	T	C	121773425	2	2	354	1	0	0	0	0	0	0	0	1	605	1838	64	4		4	ANAPC5	12	121773425	Silent	SNP	T	TCGA-29-1784-01A-02W-0633-09	65286099	121773425	12078470	58	19351											
OLFM4	10562	genome.wustl.edu	37	13	53624717	53624717	+	Silent	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr13:53624717C>A	ENST00000219022.2	+	5	1422	c.1344C>A	c.(1342-1344)acC>acA	p.T448T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	448	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CTATGAACACCAGAACAGAAG	0.408																																																0			13											132	122	126					13																	53624717		2203	4300	6503	52522718	SO:0001819	synonymous_variant	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1344C>A	13.37:g.53624717C>A			52522718	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																				0.408	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		A	53624717	C	A	53624717	2	1	354	1	0	0	0	0	0	0	0	1	10855	581	21	3		3	OLFM4	13	53624717	Silent	SNP	C	TCGA-29-1784-01A-02W-0633-09		53624717	61545161	59	19352											
C14orf148	122945	genome.wustl.edu	37	14	77860981	77860981	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr14:77860981G>T	ENST00000380835.2	-	6	1239	c.1073C>A	c.(1072-1074)tCc>tAc	p.S358Y		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	358					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTCTTATTGGGATGGAAAGCC	0.438																																																0			14											151	134	139					14																	77860981		1568	3582	5150	76930734	SO:0001583	missense	122945			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.1073C>A	14.37:g.77860981G>T	ENSP00000370215:p.Ser358Tyr		76930734	B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782998	0.49891	.	.	ENSG00000165555	ENST00000380835	T	0.57907	0.37	4.6	3.7	0.42460	.	0.714947	0.12519	N	0.461807	T	0.48077	0.1480	L	0.54323	1.7	0.19775	N	0.999951	P	0.36616	0.561	B	0.36719	0.231	T	0.44590	-0.9318	10	0.87932	D	0	-0.4318	8.9499	0.35783	0.1059:0.0:0.8941:0.0	.	358	Q6NXP6	NXRD1_HUMAN	Y	358	ENSP00000370215:S358Y	ENSP00000370215:S358Y	S	-	2	0	C14orf148	76930734	0.223000	0.23663	0.002000	0.10522	0.022000	0.10575	1.772000	0.38552	1.051000	0.40369	0.563000	0.77884	TCC		0.438	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		T	77860981	G	T	77860981	3	4	354	1	0	0	0	0	1	0	0	0	1751	1174	41	3	10	3	C14orf148	14	77860981	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09		77860981	29488559	60	19353											
SPATA7	55812	genome.wustl.edu	37	14	88904580	88904580	+	Silent	SNP	G	G	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr14:88904580G>C	ENST00000393545.4	+	12	1903	c.1614G>C	c.(1612-1614)gtG>gtC	p.V538V	SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000356583.5_Silent_p.V506V|SPATA7_ENST00000556553.1_Silent_p.V506V	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	538					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AAACTTCTGTGAATGTCATTG	0.373																																																0			14											95	85	89					14																	88904580		2203	4300	6503	87974333	SO:0001819	synonymous_variant	55812			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1614G>C	14.37:g.88904580G>C			87974333	Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Silent	SNP	ENST00000393545.4	37	CCDS9883.1																																																																																				0.373	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			C	88904580	G	C	88904580	2	2	354	1	0	0	0	0	0	0	0	1	15016	1277	45	3		3	SPATA7	14	88904580	Silent	SNP	G	TCGA-29-1784-01A-02W-0633-09	11043599	88904580	18444960	61	19354											
AP4E1	23431	genome.wustl.edu	37	15	51204293	51204293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr15:51204293C>T	ENST00000261842.5	+	2	275	c.169C>T	c.(169-171)Cag>Tag	p.Q57*	AP4E1_ENST00000560508.1_5'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	57					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AAAATTAATCCAGCAGGAACT	0.333																																																0			15											56	58	58					15																	51204293		2196	4294	6490	48991585	SO:0001587	stop_gained	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.169C>T	15.37:g.51204293C>T	ENSP00000261842:p.Gln57*		48991585	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	37	6.108544	0.97291	.	.	ENSG00000081014	ENST00000261842	.	.	.	5.19	5.19	0.71726	.	0.061015	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-8.4966	17.2697	0.87097	0.0:1.0:0.0:0.0	.	.	.	.	X	57	.	ENSP00000261842:Q57X	Q	+	1	0	AP4E1	48991585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.082000	0.57635	2.409000	0.81822	0.591000	0.81541	CAG		0.333	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			T	51204293	C	T	51204293	4	4	354	1	0	0	0	0	0	1	0	0	752	595	21	2	175	2	AP4E1	15	51204293	Nonsense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09		51204293	51327099	62	19355											
GLDN	342035	genome.wustl.edu	37	15	51696934	51696934	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr15:51696934A>G	ENST00000335449.6	+	10	1695	c.1639A>G	c.(1639-1641)Act>Gct	p.T547A	GLDN_ENST00000396399.2_Missense_Mutation_p.T423A	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	547					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GTTTTTGTCAACTACCTTAAA	0.418																																																0			15											101	110	107					15																	51696934		2196	4292	6488	49484226	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1639A>G	15.37:g.51696934A>G	ENSP00000335196:p.Thr547Ala		49484226	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.996789	0.00435	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.91351	-2.83;-2.66	5.93	-0.395	0.12431	.	1.526740	0.04865	N	0.444907	T	0.68769	0.3037	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63756	-0.6565	10	0.07813	T	0.8	.	2.505	0.04643	0.2682:0.1433:0.4748:0.1136	.	547	Q6ZMI3	GLDN_HUMAN	A	547;423;423	ENSP00000335196:T547A;ENSP00000379681:T423A	ENSP00000335196:T547A	T	+	1	0	GLDN	49484226	.	.	0.007000	0.13788	0.005000	0.04900	.	.	-0.352000	0.08237	-0.250000	0.11733	ACT		0.418	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		G	51696934	A	G	51696934	3	3	354	1	0	0	0	0	1	0	0	0	6434	43	2	4	1677	4	GLDN	15	51696934	Missense_Mutation	SNP	A	TCGA-29-1784-01A-02W-0633-09	492641	51696934	50834458	63	19356											
SNX1	6642	genome.wustl.edu	37	15	64423921	64423921	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr15:64423921C>G	ENST00000559844.1	+	11	1065	c.1051C>G	c.(1051-1053)Cta>Gta	p.L351V	SNX1_ENST00000261889.5_Missense_Mutation_p.L351V|SNX1_ENST00000353874.4_Missense_Mutation_p.L351V|SNX1_ENST00000561026.1_Missense_Mutation_p.L286V|SNX1_ENST00000560829.1_Missense_Mutation_p.L133V			Q13596	SNX1_HUMAN	sorting nexin 1	351	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TGCAAAGAGTCTAGCCATGCT	0.527																																																0			15											80	78	79					15																	64423921		2203	4300	6503	62210974	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1051C>G	15.37:g.64423921C>G	ENSP00000453785:p.Leu351Val		62210974	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	C	3.149	-0.174670	0.06421	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.55413	0.52	5.2	5.2	0.72013	Vps5 C-terminal (1);	0.174951	0.50627	D	0.000104	T	0.44603	0.1301	L	0.28694	0.88	0.43846	D	0.99643	B;B;B;B;B;B;B	0.27951	0.044;0.016;0.016;0.016;0.036;0.195;0.016	B;B;B;B;B;B;B	0.29663	0.058;0.034;0.034;0.034;0.034;0.105;0.034	T	0.32640	-0.9899	10	0.37606	T	0.19	-18.9045	17.8936	0.88879	0.0:1.0:0.0:0.0	.	351;261;351;351;286;351;351	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;.;SNX1_HUMAN	V	351;351;286	ENSP00000326668:L351V	ENSP00000261889:L286V	L	+	1	2	SNX1	62210974	0.847000	0.29606	1.000000	0.80357	0.998000	0.95712	0.534000	0.23098	2.693000	0.91896	0.561000	0.74099	CTA		0.527	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		G	64423921	C	G	64423921	3	3	354	1	0	0	0	0	1	0	0	0	14883	912	32	3	1093	3	SNX1	15	64423921	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	12726987	64423921	38107471	64	19357											
LCTL	197021	genome.wustl.edu	37	15	66855949	66855949	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr15:66855949T>G	ENST00000341509.5	-	4	516	c.385A>C	c.(385-387)Aag>Cag	p.K129Q	LCTL_ENST00000537670.1_5'UTR|LCTL_ENST00000563438.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	129					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTCCCTTCTTGTTCACCTGC	0.532																																																0			15											125	104	111					15																	66855949		2201	4299	6500	64643003	SO:0001583	missense	197021			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.385A>C	15.37:g.66855949T>G	ENSP00000343490:p.Lys129Gln		64643003	B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	T	0.307	-0.970324	0.02232	.	.	ENSG00000188501	ENST00000341509	T	0.31247	1.5	5.67	-4.72	0.03269	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.686699	0.15423	N	0.263104	T	0.10809	0.0264	N	0.05050	-0.12	0.21719	N	0.999573	B	0.20164	0.042	B	0.25506	0.061	T	0.38023	-0.9680	10	0.07175	T	0.84	-6.7746	9.9814	0.41815	0.0:0.367:0.0918:0.5413	.	129	Q6UWM7	LCTL_HUMAN	Q	129	ENSP00000343490:K129Q	ENSP00000343490:K129Q	K	-	1	0	LCTL	64643003	0.152000	0.22762	0.033000	0.17914	0.281000	0.26958	0.404000	0.20999	-0.704000	0.05042	0.379000	0.24179	AAG		0.532	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		G	66855949	T	G	66855949	3	3	354	1	0	0	0	0	1	0	0	0	8694	1821	63	5	1358	5	LCTL	15	66855949	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	2432028	66855949	35675443	65	19358											
MCTP2	55784	genome.wustl.edu	37	15	94927339	94927339	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr15:94927339C>A	ENST00000357742.4	+	12	1671	c.1671C>A	c.(1669-1671)aaC>aaA	p.N557K	MCTP2_ENST00000451018.3_Missense_Mutation_p.N557K|MCTP2_ENST00000331706.4_Missense_Mutation_p.N145K|MCTP2_ENST00000557742.1_Missense_Mutation_p.N145K	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	557	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTGAATGGAACAAAGTTTTTA	0.418																																																0			15											106	90	95					15																	94927339		2197	4298	6495	92728343	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1671C>A	15.37:g.94927339C>A	ENSP00000350377:p.Asn557Lys		92728343	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013413	0.75161	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.72051	-0.62;-0.62;-0.62	5.95	5.03	0.67393	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.123535	0.85682	D	0.000000	T	0.82001	0.4942	M	0.80508	2.5	0.80722	D	1	P;P;P	0.45957	0.859;0.652;0.869	P;P;P	0.56788	0.724;0.449;0.806	D	0.83803	0.0237	10	0.72032	D	0.01	.	14.5827	0.68302	0.0:0.9307:0.0:0.0693	.	557;145;557	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	K	557;145;557	ENSP00000395109:N557K;ENSP00000329646:N145K;ENSP00000350377:N557K	ENSP00000329646:N145K	N	+	3	2	MCTP2	92728343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.890000	0.39728	2.824000	0.97209	0.655000	0.94253	AAC		0.418	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		A	94927339	C	A	94927339	3	1	354	1	0	0	0	0	1	0	0	0	9401	477	17	3	1717	3	MCTP2	15	94927339	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	28071390	94927339	7604053	66	19359											
CHD9	80205	genome.wustl.edu	37	16	53190438	53190438	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr16:53190438A>T	ENST00000398510.3	+	1	524	c.437A>T	c.(436-438)cAt>cTt	p.H146L	CHD9_ENST00000566029.1_Missense_Mutation_p.H146L|CHD9_ENST00000564845.1_Missense_Mutation_p.H146L|CHD9_ENST00000447540.1_Missense_Mutation_p.H146L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	146					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAACAAGGACATTCACACTCT	0.418																																																0			16											111	108	109					16																	53190438		1918	4149	6067	51747939	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.437A>T	16.37:g.53190438A>T	ENSP00000381522:p.His146Leu		51747939	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	A	16.86	3.239138	0.58995	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.88046	-2.26;-2.33	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000008	D	0.92080	0.7490	L	0.60455	1.87	0.44547	D	0.997504	B;B;D;B	0.76494	0.005;0.003;0.999;0.005	B;B;D;B	0.80764	0.011;0.005;0.994;0.011	D	0.92859	0.6304	10	0.87932	D	0	-17.9626	16.0085	0.80380	1.0:0.0:0.0:0.0	.	146;146;146;146	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	L	146	ENSP00000396345:H146L;ENSP00000381522:H146L	ENSP00000381522:H146L	H	+	2	0	CHD9	51747939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.783000	0.75078	2.172000	0.68678	0.528000	0.53228	CAT		0.418	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		T	53190438	A	T	53190438	3	4	354	1	0	0	0	0	1	0	0	0	3332	217	8	5	439	5	CHD9	16	53190438	Missense_Mutation	SNP	A	TCGA-29-1784-01A-02W-0633-09		53190438	37164315	67	19360											
AMFR	267	genome.wustl.edu	37	16	56435670	56435670	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr16:56435670G>C	ENST00000290649.5	-	8	1270	c.1060C>G	c.(1060-1062)Ctg>Gtg	p.L354V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	354					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CCACAGGGCAGTTTCCGCGCA	0.542																																					Pancreas(2;144 323 39528)											0			16											133	126	128					16																	56435670		2198	4300	6498	54993171	SO:0001583	missense	267			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1060C>G	16.37:g.56435670G>C	ENSP00000290649:p.Leu354Val		54993171	P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790796	0.90367	.	.	ENSG00000159461	ENST00000290649	T	0.57907	0.37	5.63	5.63	0.86233	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.069122	0.64402	D	0.000013	T	0.75982	0.3924	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78540	-0.2165	10	0.87932	D	0	-17.294	19.6949	0.96021	0.0:0.0:1.0:0.0	.	354	Q9UKV5	AMFR2_HUMAN	V	354	ENSP00000290649:L354V	ENSP00000290649:L354V	L	-	1	2	AMFR	54993171	1.000000	0.71417	0.960000	0.40013	0.964000	0.63967	7.806000	0.86020	2.649000	0.89929	0.650000	0.86243	CTG		0.542	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			C	56435670	G	C	56435670	3	2	354	1	0	0	0	0	1	0	0	0	571	1020	36	3	899	3	AMFR	16	56435670	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	3245232	56435670	33919083	68	19361											
TP53	7157	genome.wustl.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:7578556T>C	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	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						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	AGGGGAGTACTGTAGGAAGAG	0.552		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"	46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	17											41	42	41					17																	7578556		2203	4300	6503	7519281	SO:0001630	splice_region_variant	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.376-2A>G	17.37:g.7578556T>C			7519281	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336894	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7578556	T	C	7578556	5	2	354	1	0	0	0	0	0	0	1	0	16381	1594	55	4	924	4	TP53	17	7578556	Splice_Site	SNP	T	TCGA-29-1784-01A-02W-0633-09		7578556	73616654	69	19362											
PER1	5187	genome.wustl.edu	37	17	8045172	8045172	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:8045172A>G	ENST00000317276.4	-	22	3788	c.3551T>C	c.(3550-3552)gTg>gCg	p.V1184A	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.V1161A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1184	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGGAGTGCACAGCACCCAG	0.592			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0			17											64	74	71					17																	8045172		2203	4300	6503	7985897	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3551T>C	17.37:g.8045172A>G	ENSP00000314420:p.Val1184Ala		7985897	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379325	0.82682	.	.	ENSG00000179094	ENST00000317276	T	0.19394	2.15	5.67	5.67	0.87782	Period circadian-like, C-terminal (1);	0.065827	0.64402	D	0.000014	T	0.39064	0.1064	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.973	D;P	0.66847	0.947;0.744	T	0.27434	-1.0074	10	0.87932	D	0	-15.356	8.416	0.32672	0.9137:0.0:0.0863:0.0	.	1175;1184	A2I2P6;O15534	.;PER1_HUMAN	A	1184	ENSP00000314420:V1184A	ENSP00000314420:V1184A	V	-	2	0	PER1	7985897	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.883000	0.69721	2.178000	0.69098	0.533000	0.62120	GTG		0.592	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			G	8045172	A	G	8045172	3	3	354	1	0	0	0	0	1	0	0	0	11729	159	6	4	329	4	PER1	17	8045172	Missense_Mutation	SNP	A	TCGA-29-1784-01A-02W-0633-09	466616	8045172	73150038	70	19363											
MYH4	4622	genome.wustl.edu	37	17	10356504	10356504	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:10356504T>A	ENST00000255381.2	-	24	3186	c.3076A>T	c.(3076-3078)Aaa>Taa	p.K1026*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1026					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTTTAGCTTTGGTCAGGGTG	0.468																																																0			17											334	299	311					17																	10356504		2203	4300	6503	10297229	SO:0001587	stop_gained	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3076A>T	17.37:g.10356504T>A	ENSP00000255381:p.Lys1026*		10297229		Nonsense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	40	8.361816	0.98777	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.28	5.28	0.74379	.	0.000000	0.39834	U	0.001253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5054	0.75735	0.0:0.0:0.0:1.0	.	.	.	.	X	1026	.	ENSP00000255381:K1026X	K	-	1	0	MYH4	10297229	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.865000	0.87049	2.116000	0.64780	0.533000	0.62120	AAA		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10356504	T	A	10356504	4	1	354	1	0	0	0	0	0	1	0	0	10037	1821	63	5	2811	5	MYH4	17	10356504	Nonsense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	2311332	10356504	70838706	71	19364											
MYH1	4619	genome.wustl.edu	37	17	10398600	10398600	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:10398600T>C	ENST00000226207.5	-	36	5298	c.5204A>G	c.(5203-5205)gAg>gGg	p.E1735G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1735					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGTCTGTCTCCAGCTTCTT	0.428																																																0			17											202	174	184					17																	10398600		2203	4300	6503	10339325	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5204A>G	17.37:g.10398600T>C	ENSP00000226207:p.Glu1735Gly		10339325	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945876	0.92593	.	.	ENSG00000109061	ENST00000226207	D	0.86030	-2.06	5.28	5.28	0.74379	Myosin tail (1);	0.000000	0.43579	U	0.000545	D	0.95392	0.8504	H	0.98333	4.205	0.58432	D	0.999998	D	0.71674	0.998	D	0.71414	0.973	D	0.97288	0.9922	10	0.87932	D	0	.	15.4996	0.75687	0.0:0.0:0.0:1.0	.	1735	P12882	MYH1_HUMAN	G	1735	ENSP00000226207:E1735G	ENSP00000226207:E1735G	E	-	2	0	MYH1	10339325	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.830000	0.86741	2.115000	0.64714	0.459000	0.35465	GAG		0.428	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		C	10398600	T	C	10398600	3	2	354	1	0	0	0	0	1	0	0	0	10029	1551	54	4	635	4	MYH1	17	10398600	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	42096	10398600	70796610	72	19365											
THRA	7067	genome.wustl.edu	37	17	38244743	38244743	+	Silent	SNP	A	A	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:38244743A>G	ENST00000264637.4	+	8	1552	c.972A>G	c.(970-972)ctA>ctG	p.L324L	THRA_ENST00000450525.2_Silent_p.L324L|THRA_ENST00000584985.1_Silent_p.L324L|THRA_ENST00000394121.4_Silent_p.L324L|THRA_ENST00000546243.1_Silent_p.L324L	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	324	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CTGTGCTGCTAATGTCAACAG	0.577																																																0			17											107	97	100					17																	38244743		2203	4300	6503	35498269	SO:0001819	synonymous_variant	7067			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.972A>G	17.37:g.38244743A>G			35498269	A8K3B5|P21205|Q8N6A1|Q96H73	Silent	SNP	ENST00000264637.4	37	CCDS11360.1																																																																																				0.577	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			G	38244743	A	G	38244743	2	3	354	1	0	0	0	0	0	0	0	1	15873	349	13	4		4	THRA	17	38244743	Silent	SNP	A	TCGA-29-1784-01A-02W-0633-09	27846143	38244743	42950467	73	19366											
LSM12	124801	genome.wustl.edu	37	17	42141262	42141262	+	Silent	SNP	G	G	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:42141262G>T	ENST00000591247.1	-	3	487	c.165C>A	c.(163-165)atC>atA	p.I55I	LSM12_ENST00000585388.1_Silent_p.I55I|LSM12_ENST00000293406.3_Silent_p.I55I	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	55										NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTATGAGCAAGATGTCTGCAT	0.418																																																0			17											95	85	88					17																	42141262		2203	4299	6502	39496788	SO:0001819	synonymous_variant	124801			BC044587	CCDS11475.1	17q21.31	2007-08-21				ENSG00000161654			26407	protein-coding gene	gene with protein product		611793				15225602	Standard	NM_152344		Approved	FLJ30656	uc002iev.3	Q3MHD2		ENST00000591247.1:c.165C>A	17.37:g.42141262G>T			39496788	Q86YB1|Q96NL5	Silent	SNP	ENST00000591247.1	37	CCDS11475.1																																																																																				0.418	LSM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457672.1	NM_152344		T	42141262	G	T	42141262	2	4	354	1	0	0	0	0	0	0	0	1	9053	932	33	3		3	LSM12	17	42141262	Silent	SNP	G	TCGA-29-1784-01A-02W-0633-09	3896519	42141262	39053948	74	19367											
ADAM11	4185	genome.wustl.edu	37	17	42849004	42849004	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:42849004C>T	ENST00000200557.6	+	5	603	c.434C>T	c.(433-435)tCc>tTc	p.S145F	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	145					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AACCCGCACTCCTTCGCCGCC	0.692																																																0			17											47	52	50					17																	42849004		2203	4299	6502	40204530	SO:0001583	missense	4185			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.434C>T	17.37:g.42849004C>T	ENSP00000200557:p.Ser145Phe		40204530	Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.928022	0.34002	.	.	ENSG00000073670	ENST00000200557;ENST00000355638	T	0.13307	2.6	4.83	4.83	0.62350	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000001	T	0.46190	0.1380	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58375	-0.7647	10	0.87932	D	0	.	13.4297	0.61049	0.0:1.0:0.0:0.0	.	145	O75078	ADA11_HUMAN	F	145;45	ENSP00000200557:S145F	ENSP00000200557:S145F	S	+	2	0	ADAM11	40204530	1.000000	0.71417	0.975000	0.42487	0.589000	0.36550	6.377000	0.73145	2.236000	0.73375	0.561000	0.74099	TCC		0.692	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		T	42849004	C	T	42849004	3	4	354	1	0	0	0	0	1	0	0	0	235	855	30	2	452	2	ADAM11	17	42849004	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	707742	42849004	38346206	75	19368											
CDC27	996	genome.wustl.edu	37	17	45206793	45206793	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:45206793C>G	ENST00000066544.3	-	16	2219	c.2126G>C	c.(2125-2127)aGa>aCa	p.R709T	CDC27_ENST00000446365.2_Missense_Mutation_p.R648T|CDC27_ENST00000527547.1_Missense_Mutation_p.R708T|CDC27_ENST00000531206.1_Missense_Mutation_p.R715T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	709					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AACTGAGGCTCTGTGAAATTT	0.348																																																0			17											94	98	96					17																	45206793		2203	4299	6502	42561792	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2126G>C	17.37:g.45206793C>G	ENSP00000066544:p.Arg709Thr		42561792	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828772	0.90955	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80929	0.4718	M	0.89968	3.075	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.993	D;D;D;D	0.79784	0.993;0.971;0.971;0.917	D	0.84535	0.0635	10	0.87932	D	0	-12.6948	17.2896	0.87152	0.0:1.0:0.0:0.0	.	648;708;715;709	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	T	709;715;648;708	ENSP00000066544:R709T;ENSP00000434614:R715T;ENSP00000392802:R648T;ENSP00000437339:R708T	ENSP00000066544:R709T	R	-	2	0	CDC27	42561792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.041000	0.70988	2.669000	0.90835	0.563000	0.77884	AGA		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			G	45206793	C	G	45206793	3	3	354	1	0	0	0	0	1	0	0	0	3066	913	32	3	364	3	CDC27	17	45206793	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	2357789	45206793	35988417	76	19369											
SCN4A	6329	genome.wustl.edu	37	17	62021137	62021137	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:62021137T>A	ENST00000435607.1	-	22	4062	c.3986A>T	c.(3985-3987)aAg>aTg	p.K1329M	SCN4A_ENST00000578147.1_Missense_Mutation_p.K1329M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1329					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAGGCTTCTTGGAGCCAAG	0.542																																																0			17											75	78	77					17																	62021137		2140	4288	6428	59374869	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3986A>T	17.37:g.62021137T>A	ENSP00000396320:p.Lys1329Met		59374869	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029655	0.75504	.	.	ENSG00000007314	ENST00000435607	D	0.96802	-4.13	3.38	3.38	0.38709	.	0.116742	0.56097	D	0.000022	D	0.98729	0.9573	H	0.98276	4.19	0.54753	D	0.999983	D	0.89917	1.0	D	0.80764	0.994	D	0.98628	1.0670	10	0.87932	D	0	.	11.4387	0.50083	0.0:0.0:0.0:1.0	.	1329	P35499	SCN4A_HUMAN	M	1329	ENSP00000396320:K1329M	ENSP00000396320:K1329M	K	-	2	0	SCN4A	59374869	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.817000	0.86213	1.552000	0.49463	0.368000	0.22195	AAG		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		A	62021137	T	A	62021137	3	1	354	1	0	0	0	0	1	0	0	0	13923	1609	56	5	1536	5	SCN4A	17	62021137	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	16814344	62021137	19174073	77	19370											
WBP2	23558	genome.wustl.edu	37	17	73845688	73845688	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:73845688C>G	ENST00000591399.1	-	4	725	c.301G>C	c.(301-303)Gga>Cga	p.G101R	WBP2_ENST00000585462.1_Missense_Mutation_p.G79R|WBP2_ENST00000433525.2_Missense_Mutation_p.G101R|WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000254806.3_Missense_Mutation_p.G101R|WBP2_ENST00000344296.4_Missense_Mutation_p.G79R|WBP2_ENST00000590221.1_Missense_Mutation_p.G101R			Q969T9	WBP2_HUMAN	WW domain binding protein 2	101					cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCTACCTCCCGCTTCCGCC	0.562																																																0			17											163	129	141					17																	73845688		2203	4300	6503	71357283	SO:0001583	missense	23558			U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.301G>C	17.37:g.73845688C>G	ENSP00000467579:p.Gly101Arg		71357283	O95638	Missense_Mutation	SNP	ENST00000591399.1	37	CCDS11731.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241197	0.95272	.	.	ENSG00000132471	ENST00000254806;ENST00000344296;ENST00000433525;ENST00000431190;ENST00000416574	T;T;T	0.38722	1.12;1.12;1.12	4.77	4.77	0.60923	WW-domain-binding protein (1);	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	L	0.46670	1.46	0.80722	D	1	D;P;P;P	0.57899	0.981;0.927;0.909;0.909	P;P;P;P	0.59171	0.853;0.615;0.534;0.534	T	0.58267	-0.7666	10	0.59425	D	0.04	.	17.8009	0.88586	0.0:1.0:0.0:0.0	.	101;101;101;101	B4DV07;B4DFG2;Q7Z511;Q969T9	.;.;.;WBP2_HUMAN	R	101;79;101;101;101	ENSP00000254806:G101R;ENSP00000341570:G79R;ENSP00000415251:G101R	ENSP00000254806:G101R	G	-	1	0	WBP2	71357283	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	7.773000	0.85462	2.201000	0.70794	0.561000	0.74099	GGA		0.562	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	NM_012478		G	73845688	C	G	73845688	3	3	354	1	0	0	0	0	1	0	0	0	17259	632	22	3	508	3	WBP2	17	73845688	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	11824551	73845688	7349522	78	19371											
DNAH17	8632	genome.wustl.edu	37	17	76446789	76446789	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr17:76446789T>G	ENST00000585328.1	-	67	10983	c.10859A>C	c.(10858-10860)cAc>cCc	p.H3620P	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.H3611P	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3611					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTGGCTGTGTGCTTGGTGGT	0.647																																																0			17											77	62	67					17																	76446789		2203	4300	6503	73958384	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10859A>C	17.37:g.76446789T>G	ENSP00000465516:p.His3620Pro		73958384	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	14.47	2.543677	0.45280	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.52526	0.66	5.37	4.25	0.50352	.	0.091829	0.47455	D	0.000238	T	0.36386	0.0965	L	0.38175	1.15	0.36219	D	0.851893	B	0.26902	0.163	B	0.36808	0.233	T	0.49418	-0.8942	10	0.52906	T	0.07	.	1.546	0.02565	0.3032:0.199:0.0:0.4978	.	3620	E7EUM8	.	P	3620;3611	ENSP00000374490:H3611P	ENSP00000300671:H3620P	H	-	2	0	DNAH17	73958384	0.921000	0.31238	0.972000	0.41901	0.804000	0.45430	0.888000	0.28268	2.018000	0.59344	0.528000	0.53228	CAC		0.647	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		G	76446789	T	G	76446789	3	3	354	1	0	0	0	0	1	0	0	0	4601	1696	59	5	2574	5	DNAH17	17	76446789	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	2601101	76446789	4748421	79	19372											
SETBP1	26040	genome.wustl.edu	37	18	42533293	42533293	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr18:42533293T>A	ENST00000282030.5	+	4	4284	c.3988T>A	c.(3988-3990)Tcc>Acc	p.S1330T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1330						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTATGACTCCTCCATGTCTCC	0.448									Schinzel-Giedion syndrome																																							0			18											82	78	79					18																	42533293		2203	4300	6503	40787291	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3988T>A	18.37:g.42533293T>A	ENSP00000282030:p.Ser1330Thr		40787291	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284676	0.40394	.	.	ENSG00000152217	ENST00000282030	T	0.71698	-0.59	6.17	5.0	0.66597	.	0.267034	0.39341	N	0.001388	T	0.55705	0.1937	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.50684	-0.8799	10	0.42905	T	0.14	.	8.8185	0.35011	0.1268:0.0:0.1331:0.7401	.	1330	Q9Y6X0	SETBP_HUMAN	T	1330	ENSP00000282030:S1330T	ENSP00000282030:S1330T	S	+	1	0	SETBP1	40787291	0.999000	0.42202	0.998000	0.56505	0.979000	0.70002	1.933000	0.40153	1.129000	0.42072	-0.336000	0.08194	TCC		0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		A	42533293	T	A	42533293	3	1	354	1	0	0	0	0	1	0	0	0	14132	1551	54	5	4191	5	SETBP1	18	42533293	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09		42533293	35543955	80	19373											
ZNF536	9745	genome.wustl.edu	37	19	30934607	30934607	+	Silent	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr19:30934607C>A	ENST00000355537.3	+	2	285	c.138C>A	c.(136-138)gcC>gcA	p.A46A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	46					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCCATGCCTTCCCCGAGC	0.677																																																0			19											76	76	76					19																	30934607		2203	4300	6503	35626447	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.138C>A	19.37:g.30934607C>A			35626447	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		A	30934607	C	A	30934607	2	1	354	1	0	0	0	0	0	0	0	1	17974	668	24	3		3	ZNF536	19	30934607	Silent	SNP	C	TCGA-29-1784-01A-02W-0633-09		30934607	28194376	81	19374											
RYR1	6261	genome.wustl.edu	37	19	38937395	38937395	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr19:38937395C>A	ENST00000359596.3	+	9	787	c.787C>A	c.(787-789)Cca>Aca	p.P263T	RYR1_ENST00000360985.3_Missense_Mutation_p.P263T|RYR1_ENST00000355481.4_Missense_Mutation_p.P263T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	263	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGGCTGGAGCCACTGAGAAT	0.592																																																0			19											37	37	37					19																	38937395		2203	4300	6503	43629235	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.787C>A	19.37:g.38937395C>A	ENSP00000352608:p.Pro263Thr		43629235	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255873	0.59321	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.86769	-2.17;-2.17;-2.17	4.31	4.31	0.51392	MIR motif (2);MIR (2);	0.000000	0.64402	U	0.000004	D	0.90998	0.7169	L	0.54908	1.71	0.52501	D	0.99995	D;P	0.89917	1.0;0.846	D;P	0.91635	0.999;0.842	D	0.90218	0.4269	10	0.39692	T	0.17	.	14.3051	0.66380	0.0:1.0:0.0:0.0	.	263;263	P21817-2;P21817	.;RYR1_HUMAN	T	263	ENSP00000352608:P263T;ENSP00000347667:P263T;ENSP00000354254:P263T	ENSP00000347667:P263T	P	+	1	0	RYR1	43629235	1.000000	0.71417	0.993000	0.49108	0.904000	0.53231	2.217000	0.42880	2.242000	0.73789	0.563000	0.77884	CCA		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38937395	C	A	38937395	3	1	354	1	0	0	0	0	1	0	0	0	13771	739	26	3	821	3	RYR1	19	38937395	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	8002788	38937395	20191588	82	19375											
LILRA1	11024	genome.wustl.edu	37	19	55106416	55106416	+	Splice_Site	SNP	A	A	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr19:55106416A>T	ENST00000251372.3	+	4	539	c.357A>T	c.(355-357)acA>acT	p.T119T	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Splice_Site_p.T119T|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	119	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTGGTGACAGGTGAGCTGA	0.627																																																0			19											63	63	63					19																	55106416		2203	4300	6503	59798228	SO:0001630	splice_region_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.358+1A>T	19.37:g.55106416A>T			59798228	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	CCDS12901.1																																																																																				0.627	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Silent	T	55106416	A	T	55106416	5	4	354	1	0	0	0	0	0	0	1	0	8784	202	7	5	367	5	LILRA1	19	55106416	Splice_Site	SNP	A	TCGA-29-1784-01A-02W-0633-09	16169021	55106416	4022567	83	19376											
ZNF343	79175	genome.wustl.edu	37	20	2464099	2464099	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr20:2464099C>A	ENST00000278772.4	-	6	1995	c.1508G>T	c.(1507-1509)aGc>aTc	p.S503I	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TGACTTCTGGCTAAAACCTCG	0.507																																																0			20											130	120	123					20																	2464099		2203	4300	6503	2412099	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1508G>T	20.37:g.2464099C>A	ENSP00000278772:p.Ser503Ile		2412099	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.988012	0.35036	.	.	ENSG00000088876	ENST00000278772	T	0.56103	0.48	2.42	0.0611	0.14339	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32010	0.0815	L	0.31845	0.965	0.20196	N	0.999921	P	0.37158	0.585	B	0.29716	0.106	T	0.13522	-1.0506	9	0.38643	T	0.18	.	4.1689	0.10320	0.0:0.4385:0.3973:0.1643	.	503	Q6P1L6	ZN343_HUMAN	I	503	ENSP00000278772:S503I	ENSP00000278772:S503I	S	-	2	0	ZNF343	2412099	0.000000	0.05858	0.019000	0.16419	0.430000	0.31655	-0.288000	0.08377	0.350000	0.24002	0.591000	0.81541	AGC		0.507	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		A	2464099	C	A	2464099	3	1	354	1	0	0	0	0	1	0	0	0	17858	797	28	3	295	3	ZNF343	20	2464099	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09		2464099	60561421	84	19377											
BFSP1	631	genome.wustl.edu	37	20	17492702	17492702	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr20:17492702T>G	ENST00000377873.3	-	4	585	c.546A>C	c.(544-546)gaA>gaC	p.E182D	BFSP1_ENST00000536626.1_Missense_Mutation_p.E43D|BFSP1_ENST00000544874.1_Missense_Mutation_p.E43D|BFSP1_ENST00000377868.2_Missense_Mutation_p.E57D|BFSP1_ENST00000473415.1_5'UTR	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	182	Coil 1B.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGGTCTGAACTTCCAGAAGAT	0.463																																																0			20											133	103	113					20																	17492702		2203	4300	6503	17440702	SO:0001583	missense	631			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.546A>C	20.37:g.17492702T>G	ENSP00000367104:p.Glu182Asp		17440702	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995696	0.74703	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.90324	-2.65;0.63;0.62;0.62	5.02	2.65	0.31530	Filament (1);	0.000000	0.85682	D	0.000000	D	0.91284	0.7252	L	0.59436	1.845	0.41262	D	0.986787	B;P	0.50272	0.447;0.933	B;P	0.56612	0.179;0.802	D	0.89129	0.3508	10	0.62326	D	0.03	-21.1436	7.9007	0.29734	0.0:0.1836:0.0:0.8164	.	57;182	Q12934-2;Q12934	.;BFSP1_HUMAN	D	182;57;43;43	ENSP00000367104:E182D;ENSP00000367099:E57D;ENSP00000442522:E43D;ENSP00000439870:E43D	ENSP00000367099:E57D	E	-	3	2	BFSP1	17440702	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	1.631000	0.37092	0.308000	0.22923	0.418000	0.28097	GAA		0.463	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		G	17492702	T	G	17492702	3	3	354	1	0	0	0	0	1	0	0	0	1415	1606	56	5	1471	5	BFSP1	20	17492702	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	15028603	17492702	45532818	85	19378											
XRN2	22803	genome.wustl.edu	37	20	21324813	21324813	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr20:21324813G>A	ENST00000377191.3	+	16	1591	c.1496G>A	c.(1495-1497)aGt>aAt	p.S499N	XRN2_ENST00000430571.2_Missense_Mutation_p.S423N|XRN2_ENST00000539513.1_Missense_Mutation_p.S445N	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	499					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GCAGAAGACAGTGACAGTGAA	0.423																																																0			20											174	156	162					20																	21324813		2203	4300	6503	21272813	SO:0001583	missense	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1496G>A	20.37:g.21324813G>A	ENSP00000366396:p.Ser499Asn		21272813	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471228	0.63625	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.18657	2.2;2.2;2.2	5.48	5.48	0.80851	.	0.037066	0.85682	D	0.000000	T	0.29190	0.0726	M	0.78801	2.425	0.80722	D	1	B	0.23185	0.081	B	0.17098	0.017	T	0.14254	-1.0479	10	0.17369	T	0.5	-20.6745	19.7111	0.96096	0.0:0.0:1.0:0.0	.	499	Q9H0D6	XRN2_HUMAN	N	499;423;445	ENSP00000366396:S499N;ENSP00000413548:S423N;ENSP00000441113:S445N	ENSP00000366396:S499N	S	+	2	0	XRN2	21272813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.129000	0.94430	2.703000	0.92315	0.650000	0.86243	AGT		0.423	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		A	21324813	G	A	21324813	3	1	354	1	0	0	0	0	1	0	0	0	17460	1029	36	2	1558	2	XRN2	20	21324813	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	3832111	21324813	41700707	86	19379											
GTSF1L	149699	genome.wustl.edu	37	20	42355121	42355121	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr20:42355121C>T	ENST00000373003.1	-	1	517	c.214G>A	c.(214-216)Gag>Aag	p.E72K	GTSF1L_ENST00000373005.2_Missense_Mutation_p.E72K	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	72							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGGTGTCCTCTTCTTCCACA	0.537																																																0			20											141	120	127					20																	42355121		2203	4300	6503	41788535	SO:0001583	missense	149699			AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 65", "family with sequence similarity 112, member A"	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.214G>A	20.37:g.42355121C>T	ENSP00000362094:p.Glu72Lys		41788535	Q5JWH5	Missense_Mutation	SNP	ENST00000373003.1	37	CCDS13323.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584810	0.28268	.	.	ENSG00000124196	ENST00000373003;ENST00000373005	T;T	0.47177	0.85;0.9	3.63	2.48	0.30137	.	0.692173	0.12916	N	0.428541	T	0.34919	0.0914	L	0.58810	1.83	0.32076	N	0.593814	P;P	0.46395	0.877;0.734	B;B	0.38106	0.265;0.196	T	0.37820	-0.9689	10	0.12103	T	0.63	-14.0304	5.3876	0.16226	0.0:0.7969:0.0:0.2031	.	72;72	Q9H1H1;Q5JWH5	GTSFL_HUMAN;.	K	72	ENSP00000362094:E72K;ENSP00000362096:E72K	ENSP00000362094:E72K	E	-	1	0	GTSF1L	41788535	0.361000	0.24972	0.783000	0.31826	0.365000	0.29674	1.427000	0.34881	0.869000	0.35703	0.430000	0.28490	GAG		0.537	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		T	42355121	C	T	42355121	3	4	354	1	0	0	0	0	1	0	0	0	6887	922	32	2	236	2	GTSF1L	20	42355121	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	21030308	42355121	20670399	87	19380											
MMP9	4318	genome.wustl.edu	37	20	44639843	44639843	+	Silent	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr20:44639843G>A	ENST00000372330.3	+	5	730	c.711G>A	c.(709-711)gaG>gaA	p.E237E	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	237	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCATCTTCGAGGGCCGCTCCT	0.652																																																0			20											89	96	94					20																	44639843		2203	4300	6503	44073250	SO:0001819	synonymous_variant	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.711G>A	20.37:g.44639843G>A			44073250	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	CCDS13390.1																																																																																				0.652	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			A	44639843	G	A	44639843	2	1	354	1	0	0	0	0	0	0	0	1	9669	991	35	2		2	MMP9	20	44639843	Silent	SNP	G	TCGA-29-1784-01A-02W-0633-09	2284722	44639843	18385677	88	19381											
THOC5	8563	genome.wustl.edu	37	22	29927908	29927908	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr22:29927908C>G	ENST00000490103.1	-	8	881	c.759G>C	c.(757-759)caG>caC	p.Q253H	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q253H|THOC5_ENST00000397872.1_Missense_Mutation_p.Q253H|THOC5_ENST00000397873.2_Missense_Mutation_p.Q253H	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	253					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTTGTGAGCCTGGTCGAATG	0.532																																																0			22											108	86	94					22																	29927908		2203	4300	6503	28257908	SO:0001583	missense	8563			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.759G>C	22.37:g.29927908C>G	ENSP00000420306:p.Gln253His		28257908	O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	CCDS13859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.35|12.35	1.912487|1.912487	0.33721|0.33721	.|.	.|.	ENSG00000100296|ENSG00000100296	ENST00000443089|ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	.|T;T;T;T	.|0.23348	.|1.91;1.91;1.91;1.91	6.04|6.04	3.97|3.97	0.46021|0.46021	.|.	.|0.182249	.|0.53938	.|D	.|0.000052	T|T	0.16214|0.16214	0.0390|0.0390	L|L	0.27053|0.27053	0.805|0.805	0.41484|0.41484	D|D	0.988187|0.988187	.|B	.|0.10296	.|0.003	.|B	.|0.12156	.|0.007	T|T	0.06552|0.06552	-1.0820|-1.0820	5|10	.|0.38643	.|T	.|0.18	-31.0597|-31.0597	6.5975|6.5975	0.22683|0.22683	0.0:0.6224:0.1243:0.2533|0.0:0.6224:0.1243:0.2533	.|.	.|253	.|Q13769	.|THOC5_HUMAN	R|H	113|253	.|ENSP00000420306:Q253H;ENSP00000380970:Q253H;ENSP00000380969:Q253H;ENSP00000380971:Q253H	.|ENSP00000380969:Q253H	G|Q	-|-	1|3	0|2	THOC5|THOC5	28257908|28257908	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	0.406000|0.406000	0.21032|0.21032	0.898000|0.898000	0.36418|0.36418	0.563000|0.563000	0.77884|0.77884	GGC|CAG		0.532	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		G	29927908	C	G	29927908	3	3	354	1	0	0	0	0	1	0	0	0	15868	680	24	3	1344	3	THOC5	22	29927908	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09		29927908	21376658	89	19382											
DEPDC5	9681	genome.wustl.edu	37	22	32293484	32293484	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr22:32293484G>C	ENST00000382112.3	+	39	4263	c.4193G>C	c.(4192-4194)cGg>cCg	p.R1398P	DEPDC5_ENST00000400246.1_Missense_Mutation_p.R1407P|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1376P|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1376P|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1407P|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R224P|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1385P|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1307P	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1407					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGTTGGCATCGGAAAGCCACC	0.502																																																0			22											112	108	110					22																	32293484		1885	4110	5995	30623484	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4193G>C	22.37:g.32293484G>C	ENSP00000371546:p.Arg1398Pro		30623484	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.392498	0.83011	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T;T;T;T;T;T;T	0.40756	1.02;1.45;1.45;1.35;1.45;1.35;1.45	5.74	4.73	0.59995	.	0.062767	0.64402	D	0.000007	T	0.63129	0.2485	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.996;0.998;0.999;0.998;0.995;0.995	T	0.67292	-0.5707	10	0.72032	D	0.01	.	13.8147	0.63283	0.0732:0.0:0.9268:0.0	.	1407;1307;793;1385;1398;1376	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	P	1307;1385;1376;1307;1407;1398;1407;1376;224	ENSP00000440210:R1307P;ENSP00000266091:R1385P;ENSP00000383108:R1376P;ENSP00000383105:R1407P;ENSP00000371546:R1398P;ENSP00000371545:R1407P;ENSP00000383107:R1376P	ENSP00000266091:R1385P	R	+	2	0	DEPDC5	30623484	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.454000	0.97621	1.442000	0.47568	0.651000	0.88453	CGG		0.502	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		C	32293484	G	C	32293484	3	2	354	1	0	0	0	0	1	0	0	0	4442	1116	39	3	4365	3	DEPDC5	22	32293484	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	2365576	32293484	19011082	90	19383											
SREBF2	6721	genome.wustl.edu	37	22	42271369	42271369	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chr22:42271369C>G	ENST00000361204.4	+	6	1284	c.1118C>G	c.(1117-1119)gCc>gGc	p.A373G		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	373	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTGAGGAAGGCCATTGATTAC	0.478																																																0			22											86	74	78					22																	42271369		2203	4300	6503	40601315	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1118C>G	22.37:g.42271369C>G	ENSP00000354476:p.Ala373Gly		40601315	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569979	0.96540	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	D	0.99519	-6.07	6.07	6.07	0.98685	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97820	1.0256	10	0.87932	D	0	-28.0295	20.6439	0.99570	0.0:1.0:0.0:0.0	.	373	Q12772	SRBP2_HUMAN	G	373	ENSP00000354476:A373G	ENSP00000354476:A373G	A	+	2	0	SREBF2	40601315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GCC		0.478	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		G	42271369	C	G	42271369	3	3	354	1	0	0	0	0	1	0	0	0	15144	739	26	3	1140	3	SREBF2	22	42271369	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	9977885	42271369	9033197	91	19384											
CSF2RA	1438	genome.wustl.edu	37	X	1409297	1409297	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chrX:1409297G>A	ENST00000381524.3	+	7	727	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CSF2RA_ENST00000381529.3_Missense_Mutation_p.D181N|CSF2RA_ENST00000381509.3_Missense_Mutation_p.D181N|CSF2RA_ENST00000355805.2_Missense_Mutation_p.D181N|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000355432.3_Missense_Mutation_p.D181N|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.D181N|CSF2RA_ENST00000501036.2_Missense_Mutation_p.D48N|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Missense_Mutation_p.D181N|CSF2RA_ENST00000432318.2_Missense_Mutation_p.D181N|CSF2RA_ENST00000361536.3_Missense_Mutation_p.D181N			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	181					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATGTCACCTGGATAACCTGTC	0.438																																					Esophageal Squamous(131;723 1707 25334 40494 41806)											0			X											316	305	309					X																	1409297		2203	4296	6499	1369297	SO:0001583	missense	1438			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.541G>A	X.37:g.1409297G>A	ENSP00000370935:p.Asp181Asn		1369297	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.160	-1.082386	0.01888	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D;D;D;D	0.94966	-1.8;-1.8;-1.8;-3.57;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	1.57	-3.14	0.05250	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	6.945320	0.01157	U	0.006545	D	0.89715	0.6795	.	.	.	0.09310	N	1	P;B;B;B;B;B	0.34864	0.473;0.339;0.291;0.05;0.244;0.288	B;B;B;B;B;B	0.36504	0.084;0.226;0.061;0.028;0.109;0.174	T	0.81328	-0.0982	9	0.28530	T	0.3	.	4.8229	0.13400	0.1864:0.3109:0.5026:0.0	.	181;181;181;181;181;181	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	N	181;181;181;181;48;181;181;181;181;181;181;181;181	ENSP00000370940:D181N;ENSP00000416437:D181N;ENSP00000354836:D181N;ENSP00000440491:D48N;ENSP00000370935:D181N;ENSP00000410667:D181N;ENSP00000397452:D181N;ENSP00000370920:D181N;ENSP00000348058:D181N;ENSP00000347606:D181N;ENSP00000394227:D181N;ENSP00000370911:D181N	ENSP00000347606:D181N	D	+	1	0	CSF2RA	1369297	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.481000	0.02323	-1.709000	0.01399	-0.783000	0.03347	GAT		0.438	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			A	1409297	G	A	1409297	3	1	354	1	0	0	0	0	1	0	0	0	3934	1174	41	2	559	2	CSF2RA	23	1409297	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09		1409297	153861263	92	19385											
ZBED1	9189	genome.wustl.edu	37	X	2407124	2407124	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chrX:2407124T>A	ENST00000381223.4	-	2	1840	c.1637A>T	c.(1636-1638)aAc>aTc	p.N546I	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Missense_Mutation_p.N546I|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.N546I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	546					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCAGCATGTTGTTGATGAC	0.632																																																0			X											69	63	65					X																	2407124		2203	4296	6499	2417124	SO:0001583	missense	9189			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1637A>T	X.37:g.2407124T>A	ENSP00000370621:p.Asn546Ile		2417124	Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	T	5.360	0.251786	0.10185	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.23348	1.91;1.91;1.91	3.06	-6.12	0.02124	Ribonuclease H-like (1);	0.438357	0.19813	U	0.105496	T	0.12475	0.0303	.	.	.	0.09310	N	1	B	0.29085	0.232	B	0.20955	0.032	T	0.02417	-1.1162	9	0.40728	T	0.16	.	6.7012	0.23227	0.0:0.4638:0.1439:0.3923	.	546	O96006	ZBED1_HUMAN	I	546	ENSP00000370621:N546I;ENSP00000370620:N546I;ENSP00000370616:N546I	ENSP00000370616:N546I	N	-	2	0	ZBED1	2417124	1.000000	0.71417	0.739000	0.30968	0.850000	0.48378	0.415000	0.21181	-2.305000	0.00654	-0.483000	0.04790	AAC		0.632	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		A	2407124	T	A	2407124	3	1	354	1	0	0	0	0	1	0	0	0	17517	1725	60	5	451	5	ZBED1	23	2407124	Missense_Mutation	SNP	T	TCGA-29-1784-01A-02W-0633-09	997827	2407124	152863436	93	19386											
PCDH19	57526	genome.wustl.edu	37	X	99661900	99661900	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chrX:99661900G>A	ENST00000373034.4	-	1	3371	c.1696C>T	c.(1696-1698)Cca>Tca	p.P566S	PCDH19_ENST00000255531.7_Missense_Mutation_p.P566S|PCDH19_ENST00000420881.2_Missense_Mutation_p.P566S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	566					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATCAGAGGTGGGGCTGTGATG	0.592																																																0			X											113	110	111					X																	99661900		2143	4217	6360	99548556	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1696C>T	X.37:g.99661900G>A	ENSP00000362125:p.Pro566Ser		99548556	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471586	0.63737	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.60040	0.22;0.22;0.22	5.84	5.84	0.93424	Cadherin (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.74899	-0.3507	10	0.87932	D	0	.	19.0738	0.93151	0.0:0.0:1.0:0.0	.	566;566;566	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	S	566	ENSP00000400327:P566S;ENSP00000362125:P566S;ENSP00000255531:P566S	ENSP00000255531:P566S	P	-	1	0	PCDH19	99548556	1.000000	0.71417	0.976000	0.42696	0.735000	0.41995	9.869000	0.99810	2.454000	0.82982	0.513000	0.50165	CCA		0.592	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		A	99661900	G	A	99661900	3	1	354	1	0	0	0	0	1	0	0	0	11514	1232	43	2	1774	2	PCDH19	23	99661900	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	97254776	99661900	55608660	94	19387											
IL1RAPL2	26280	genome.wustl.edu	37	X	105011403	105011403	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chrX:105011403C>T	ENST00000372582.1	+	11	2566	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P604S	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	604					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTGATCTCCCTGAATTCCA	0.488																																																0			X											105	91	96					X																	105011403		2203	4300	6503	104898059	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1810C>T	X.37:g.105011403C>T	ENSP00000361663:p.Pro604Ser		104898059	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.528075	0.00959	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04015	4.02;4.02;3.73	5.89	3.96	0.45880	.	0.504809	0.20026	N	0.100814	T	0.01592	0.0051	N	0.04297	-0.235	0.23473	N	0.997608	B	0.10296	0.003	B	0.08055	0.003	T	0.51702	-0.8672	10	0.02654	T	1	.	1.1536	0.01791	0.2792:0.401:0.1399:0.1799	.	604	Q9NP60	IRPL2_HUMAN	S	604;604;209	ENSP00000361663:P604S;ENSP00000344976:P604S;ENSP00000445576:P209S	ENSP00000344976:P604S	P	+	1	0	IL1RAPL2	104898059	0.984000	0.35163	0.999000	0.59377	0.471000	0.32888	0.938000	0.28965	2.492000	0.84095	0.597000	0.82753	CCT		0.488	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		T	105011403	C	T	105011403	3	4	354	1	0	0	0	0	1	0	0	0	7662	623	22	2	1848	2	IL1RAPL2	23	105011403	Missense_Mutation	SNP	C	TCGA-29-1784-01A-02W-0633-09	5349503	105011403	50259157	95	19388											
COL4A6	1288	genome.wustl.edu	37	X	107402842	107402842	+	Silent	SNP	G	G	A			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chrX:107402842G>A	ENST00000372216.4	-	44	4765	c.4665C>T	c.(4663-4665)ccC>ccT	p.P1555P	COL4A6_ENST00000418180.1_Silent_p.P89P|COL4A6_ENST00000394872.2_Silent_p.P1555P|COL4A6_ENST00000545689.1_Silent_p.P1530P|COL4A6_ENST00000538570.1_Silent_p.P1497P|COL4A6_ENST00000334504.7_Silent_p.P1554P	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1555	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTGGCTGACGGGCATCATGG	0.572									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											0			X											128	107	114					X																	107402842		2203	4300	6503	107289498	SO:0001819	synonymous_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4665C>T	X.37:g.107402842G>A			107289498	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																				0.572	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			A	107402842	G	A	107402842	2	1	354	1	0	0	0	0	0	0	0	1	3695	1103	39	1		1	COL4A6	23	107402842	Silent	SNP	G	TCGA-29-1784-01A-02W-0633-09	2391439	107402842	47867718	96	19389											
ACTRT1	139741	genome.wustl.edu	37	X	127185083	127185083	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chrX:127185083G>T	ENST00000371124.3	-	1	1299	c.1103C>A	c.(1102-1104)aCa>aAa	p.T368K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	368						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AACCACAGATGTCCCATACTC	0.463																																																0			X											173	160	165					X																	127185083		2203	4300	6503	127012764	SO:0001583	missense	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.1103C>A	X.37:g.127185083G>T	ENSP00000360165:p.Thr368Lys		127012764	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	6.170	0.399627	0.11696	.	.	ENSG00000123165	ENST00000371124	T	0.29142	1.58	4.23	-3.17	0.05202	.	1.205560	0.06029	N	0.652703	T	0.17152	0.0412	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.30001	-0.9993	10	0.87932	D	0	.	4.2155	0.10531	0.0812:0.1188:0.3232:0.4768	.	368	Q8TDG2	ACTT1_HUMAN	K	368	ENSP00000360165:T368K	ENSP00000360165:T368K	T	-	2	0	ACTRT1	127012764	0.947000	0.32204	0.000000	0.03702	0.005000	0.04900	4.903000	0.63272	-1.098000	0.03038	-0.222000	0.12452	ACA		0.463	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		T	127185083	G	T	127185083	3	4	354	1	0	0	0	0	1	0	0	0	218	1377	48	3	31	3	ACTRT1	23	127185083	Missense_Mutation	SNP	G	TCGA-29-1784-01A-02W-0633-09	19782241	127185083	28085477	97	19390											
MCF2	4168	genome.wustl.edu	37	X	138698502	138698502	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1784-01A-02W-0633-09	TCGA-29-1784-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	214738d1-a084-4024-a0e5-7f4683233a06	47f4fbdc-08e4-445d-a5cd-be801f5fa9ee	g.chrX:138698502A>T	ENST00000370576.4	-	9	1339	c.1130T>A	c.(1129-1131)aTa>aAa	p.I377K	MCF2_ENST00000520602.1_Missense_Mutation_p.I437K|MCF2_ENST00000370573.4_Missense_Mutation_p.I377K|MCF2_ENST00000536274.1_Missense_Mutation_p.I338K|MCF2_ENST00000414978.1_Missense_Mutation_p.I437K|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000338585.6_Missense_Mutation_p.I377K|MCF2_ENST00000370578.4_Missense_Mutation_p.I522K|MCF2_ENST00000519895.1_Missense_Mutation_p.I437K	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	377					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTCATAATTTATAAAGGGTAG	0.303																																																0			X											37	35	36					X																	138698502		2203	4289	6492	138526168	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1130T>A	X.37:g.138698502A>T	ENSP00000359608:p.Ile377Lys		138526168	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	A	8.622	0.891552	0.17613	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.36520	1.44;1.33;1.25;1.41;1.44;1.5;1.34;1.39	5.84	4.66	0.58398	.	0.177879	0.51477	D	0.000081	T	0.30230	0.0758	N	0.21194	0.64	0.27463	N	0.953106	B;P;B;B;B;B;P;B	0.42375	0.003;0.67;0.002;0.003;0.002;0.003;0.778;0.003	B;P;B;B;B;B;P;B	0.51833	0.008;0.482;0.01;0.008;0.01;0.008;0.681;0.008	T	0.12837	-1.0532	10	0.14252	T	0.57	.	5.496	0.16804	0.7635:0.0:0.0805:0.156	.	437;522;338;377;377;522;377;377	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	K	437;377;338;522;437;437;377;377	ENSP00000427745:I437K;ENSP00000359608:I377K;ENSP00000438155:I338K;ENSP00000359610:I522K;ENSP00000397055:I437K;ENSP00000430276:I437K;ENSP00000359605:I377K;ENSP00000342204:I377K	ENSP00000342204:I377K	I	-	2	0	MCF2	138526168	1.000000	0.71417	0.867000	0.34043	0.991000	0.79684	6.705000	0.74644	0.797000	0.33971	0.441000	0.28932	ATA		0.303	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		T	138698502	A	T	138698502	3	4	354	1	0	0	0	0	1	0	0	0	9378	449	16	5	1795	5	MCF2	23	138698502	Missense_Mutation	SNP	A	TCGA-29-1784-01A-02W-0633-09	11513419	138698502	16572058	98	19391											
CAMTA1	23261	genome.wustl.edu	37	1	7724294	7724294	+	Missense_Mutation	SNP	A	A	G	rs148901835		TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr1:7724294A>G	ENST00000303635.7	+	9	1894	c.1687A>G	c.(1687-1689)Acc>Gcc	p.T563A	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T563A	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTCACCCTGACCGCCGGCTC	0.652			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1											24	29	27					1																	7724294		2145	4203	6348	7646881	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1687A>G	1.37:g.7724294A>G	ENSP00000306522:p.Thr563Ala		7646881	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	a	10.91	1.484430	0.26598	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.22945	1.93;1.94	4.86	0.365	0.16131	.	2.527320	0.01261	N	0.009168	T	0.25568	0.0622	L	0.50333	1.59	0.32738	N	0.508099	B	0.09022	0.002	B	0.09377	0.004	T	0.22730	-1.0208	10	0.38643	T	0.18	-11.9057	6.2967	0.21089	0.5587:0.0:0.0728:0.3685	.	563	Q9Y6Y1	CMTA1_HUMAN	A	563	ENSP00000306522:T563A;ENSP00000402561:T563A	ENSP00000306522:T563A	T	+	1	0	CAMTA1	7646881	0.998000	0.40836	0.616000	0.29078	0.952000	0.60782	3.447000	0.52936	0.184000	0.20083	0.404000	0.27445	ACC		0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		G	7724294	A	G	7724294	3	3	355	1	0	0	0	0	1	0	0	0	2613	275	10	4	1721	4	CAMTA1	1	7724294	Missense_Mutation	SNP	A	TCGA-29-1785-01A-01W-0633-09		7724294	241526327	1	19392											
ANKRD35	148741	genome.wustl.edu	37	1	145562273	145562273	+	Missense_Mutation	SNP	G	G	A	rs587604541		TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr1:145562273G>A	ENST00000355594.4	+	10	2048	c.1961G>A	c.(1960-1962)cGg>cAg	p.R654Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	654										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCTGCAGCGGGAGTTTGTG	0.607																																					Melanoma(9;127 754 22988 51047)											0			1											41	45	43					1																	145562273		2203	4298	6501	144273630	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1961G>A	1.37:g.145562273G>A	ENSP00000347802:p.Arg654Gln		144273630	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	8.984	0.976145	0.18736	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.66280	-0.2	4.82	2.87	0.33458	.	0.153130	0.30374	N	0.009778	T	0.25644	0.0624	L	0.38838	1.175	0.46725	D	0.999173	B	0.19583	0.037	B	0.11329	0.006	T	0.07947	-1.0746	10	0.16896	T	0.51	-7.0326	6.4261	0.21770	0.2358:0.0:0.7642:0.0	.	654	Q8N283	ANR35_HUMAN	Q	563;654	ENSP00000347802:R654Q	ENSP00000347802:R654Q	R	+	2	0	ANKRD35	144273630	0.186000	0.23225	0.177000	0.23020	0.358000	0.29455	0.776000	0.26704	0.576000	0.29452	0.563000	0.77884	CGG		0.607	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145562273	G	A	145562273	3	1	355	1	0	0	0	0	1	0	0	0	664	1116	39	1	1999	1	ANKRD35	1	145562273	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	137837979	145562273	103688348	2	19393											
GATAD2B	57459	genome.wustl.edu	37	1	153785810	153785810	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr1:153785810C>T	ENST00000368655.4	-	8	1578	c.1335G>A	c.(1333-1335)atG>atA	p.M445I		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	445	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTTGGAGGTCATACACTGCT	0.463																																																0			1											210	180	190					1																	153785810		2203	4300	6503	152052434	SO:0001583	missense	57459			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1335G>A	1.37:g.153785810C>T	ENSP00000357644:p.Met445Ile		152052434	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559885	0.86335	.	.	ENSG00000143614	ENST00000368655	D	0.99458	-5.93	5.19	5.19	0.71726	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (1);	0.000000	0.85682	D	0.000000	D	0.97436	0.9161	L	0.55481	1.735	0.80722	D	1	B	0.33694	0.421	B	0.28139	0.086	D	0.99948	1.1502	10	0.18276	T	0.48	7.4664	17.6428	0.88141	0.0:1.0:0.0:0.0	.	445	Q8WXI9	P66B_HUMAN	I	445	ENSP00000357644:M445I	ENSP00000357644:M445I	M	-	3	0	GATAD2B	152052434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.821000	0.69257	2.709000	0.92574	0.655000	0.94253	ATG		0.463	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		T	153785810	C	T	153785810	3	4	355	1	0	0	0	0	1	0	0	0	6261	826	29	2	462	2	GATAD2B	1	153785810	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	8223537	153785810	95464811	3	19394											
INSRR	3645	genome.wustl.edu	37	1	156815544	156815544	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr1:156815544C>T	ENST00000368195.3	-	10	2437	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	681	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCATCTCGGCCTCAGGATCC	0.647																																																0			1											42	38	39					1																	156815544		2203	4300	6503	155082168	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2041G>A	1.37:g.156815544C>T	ENSP00000357178:p.Ala681Thr		155082168	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	0.314	-0.966201	0.02232	.	.	ENSG00000027644	ENST00000368195	T	0.56275	0.47	4.58	2.71	0.32032	Fibronectin, type III (3);	0.138047	0.33290	N	0.005077	T	0.10252	0.0251	.	.	.	0.32496	N	0.539497	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	9	0.09338	T	0.73	.	4.7146	0.12889	0.0:0.6235:0.1803:0.1963	.	681	P14616	INSRR_HUMAN	T	681	ENSP00000357178:A681T	ENSP00000357178:A681T	A	-	1	0	INSRR	155082168	0.001000	0.12720	0.110000	0.21437	0.063000	0.16089	0.381000	0.20619	0.666000	0.31087	0.561000	0.74099	GCC		0.647	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156815544	C	T	156815544	3	4	355	1	0	0	0	0	1	0	0	0	7774	739	26	2	1903	2	INSRR	1	156815544	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	3029734	156815544	92435077	4	19395											
ABCB10	23456	genome.wustl.edu	37	1	229661839	229661839	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr1:229661839T>C	ENST00000344517.4	-	10	1792	c.1750A>G	c.(1750-1752)Att>Gtt	p.I584V		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	584	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTCTCAGCAATAGAGCAAGAA	0.413																																																0			1											74	74	74					1																	229661839		2203	4300	6503	227728462	SO:0001583	missense	23456			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1750A>G	1.37:g.229661839T>C	ENSP00000355637:p.Ile584Val		227728462	Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996534	0.35226	.	.	ENSG00000135776	ENST00000344517	D	0.84873	-1.91	4.85	3.72	0.42706	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.047337	0.85682	N	0.000000	T	0.72684	0.3491	N	0.12443	0.215	0.53005	D	0.999961	B	0.20368	0.044	B	0.27500	0.08	T	0.65627	-0.6122	10	0.42905	T	0.14	-16.1289	9.84	0.40993	0.0:0.0834:0.0:0.9165	.	584	Q9NRK6	ABCBA_HUMAN	V	584	ENSP00000355637:I584V	ENSP00000355637:I584V	I	-	1	0	ABCB10	227728462	1.000000	0.71417	0.697000	0.30258	0.475000	0.33008	6.274000	0.72587	0.809000	0.34255	0.482000	0.46254	ATT		0.413	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		C	229661839	T	C	229661839	3	2	355	1	0	0	0	0	1	0	0	0	41	1406	49	4	482	4	ABCB10	1	229661839	Missense_Mutation	SNP	T	TCGA-29-1785-01A-01W-0633-09	72846295	229661839	19588782	5	19396											
WDR64	128025	genome.wustl.edu	37	1	241929595	241929595	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr1:241929595G>A	ENST00000366552.2	+	15	2200	c.1993G>A	c.(1993-1995)Gga>Aga	p.G665R	WDR64_ENST00000437684.2_Missense_Mutation_p.G665R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	665										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GATAGCAGCTGGAACCTTAAA	0.348																																																0			1											143	142	142					1																	241929595		2203	4300	6503	239996218	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1993G>A	1.37:g.241929595G>A	ENSP00000355510:p.Gly665Arg		239996218	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.	.	.	.	.	.	.	.	.	.	G	14.79	2.640661	0.47153	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.53857	1.82;0.6;4.5	4.91	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.599273	0.15809	N	0.243587	T	0.69378	0.3104	M	0.62723	1.935	0.35778	D	0.821415	D;D	0.89917	1.0;0.982	D;P	0.71414	0.973;0.785	T	0.76179	-0.3054	10	0.59425	D	0.04	-16.4774	15.0212	0.71632	0.0:0.0:1.0:0.0	.	665;385	B1ANS9;D1MPS4	WDR64_HUMAN;.	R	665;665;436	ENSP00000355510:G665R;ENSP00000402446:G665R;ENSP00000406656:G436R	ENSP00000355510:G665R	G	+	1	0	WDR64	239996218	1.000000	0.71417	0.782000	0.31804	0.092000	0.18411	5.343000	0.65976	2.276000	0.75962	0.650000	0.86243	GGA		0.348	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		A	241929595	G	A	241929595	3	1	355	1	0	0	0	0	1	0	0	0	17315	1349	47	2	2051	2	WDR64	1	241929595	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	12267756	241929595	7321026	6	19397											
DHX57	90957	genome.wustl.edu	37	2	39090539	39090539	+	Missense_Mutation	SNP	C	C	G	rs535416668		TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr2:39090539C>G	ENST00000295373.6	-	3	473	c.347G>C	c.(346-348)cGa>cCa	p.R116P	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	116							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTGCAGGTCTCGGAGAAGAGC	0.403																																					Melanoma(191;1090 2095 4375 23729 47341)											0			2											148	144	145					2																	39090539		2203	4300	6503	38944043	SO:0001583	missense	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.347G>C	2.37:g.39090539C>G	ENSP00000295373:p.Arg116Pro		38944043	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218868	0.79464	.	.	ENSG00000163214	ENST00000295373;ENST00000355320;ENST00000417233	T	0.04015	3.73	5.68	5.68	0.88126	.	0.000000	0.45606	D	0.000349	T	0.10035	0.0246	N	0.19112	0.55	0.53005	D	0.999964	D;D	0.89917	1.0;0.986	D;P	0.75484	0.986;0.769	T	0.13045	-1.0524	10	0.52906	T	0.07	.	10.5686	0.45188	0.1338:0.7955:0.0:0.0707	.	116;116	Q6P158-2;Q6P158	.;DHX57_HUMAN	P	116;14;14	ENSP00000295373:R116P	ENSP00000295373:R116P	R	-	2	0	DHX57	38944043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.951000	0.56684	2.669000	0.90835	0.561000	0.74099	CGA		0.403	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		G	39090539	C	G	39090539	3	3	355	1	0	0	0	0	1	0	0	0	4513	884	31	3	3901	3	DHX57	2	39090539	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09		39090539	204108834	7	19398											
CCDC142	84865	genome.wustl.edu	37	2	74701899	74701899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr2:74701899delA	ENST00000393965.3	-	9	2423	c.2027delT	c.(2026-2028)ttgfs	p.L676fs	MRPL53_ENST00000258105.7_5'Flank|MRPL53_ENST00000409710.1_5'Flank|CCDC142_ENST00000290418.4_Frame_Shift_Del_p.L669fs	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	676										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GCTGCTGGGCAATTTCGTGGT	0.562																																																0			2											38	41	40					2																	74701899		2203	4300	6503	74555407	SO:0001589	frameshift_variant	84865			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.2027delT	2.37:g.74701899delA	ENSP00000377537:p.Leu676fs		74555407	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Frame_Shift_Del	DEL	ENST00000393965.3	37																																																																																					0.562	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		-	74701899	A	-	74701899	7	5	355	1	0	1	0	1	0	0	0	0	2776	131	5	0	229	0	CCDC142	2	74701899	Frame_Shift_Del	DEL	A	TCGA-29-1785-01A-01W-0633-09	35611360	74701899	168497474	8	19399											
KCNJ3	3760	genome.wustl.edu	37	2	155555788	155555788	+	Silent	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr2:155555788C>T	ENST00000295101.2	+	1	978	c.501C>T	c.(499-501)atC>atT	p.I167I	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Silent_p.I167I	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	167					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCAGTCCATCCTGGGCTCCA	0.587																																																0			2											99	81	87					2																	155555788		2203	4300	6503	155264034	SO:0001819	synonymous_variant	3760			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.501C>T	2.37:g.155555788C>T			155264034	B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	CCDS2200.1																																																																																				0.587	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		T	155555788	C	T	155555788	2	4	355	1	0	0	0	0	0	0	0	1	8052	845	30	2		2	KCNJ3	2	155555788	Silent	SNP	C	TCGA-29-1785-01A-01W-0633-09	80853889	155555788	87643585	9	19400											
TTN	7273	genome.wustl.edu	37	2	179398318	179398318	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr2:179398318C>G	ENST00000591111.1	-	308	98325	c.98101G>C	c.(98101-98103)Gac>Cac	p.D32701H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D25277H|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D25402H|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D25469H|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D34342H|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D31774H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32701	Ig-like 144.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACAGCTGTCTTCACCATAT	0.418																																																0			2											146	130	135					2																	179398318		1991	4182	6173	179106564	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98101G>C	2.37:g.179398318C>G	ENSP00000465570:p.Asp32701His		179106564	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	18.31	3.595920	0.66332	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83871	0.5348	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.69824	0.966;0.966;0.966;0.966	D	0.85460	0.1166	9	0.87932	D	0	.	19.9077	0.97014	0.0:1.0:0.0:0.0	.	25277;25402;25469;32701	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	31774;25277;25469;25402;25274	ENSP00000343764:D31774H;ENSP00000434586:D25277H;ENSP00000340554:D25469H;ENSP00000352154:D25402H	ENSP00000340554:D25469H	D	-	1	0	TTN	179106564	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.794000	0.85869	2.712000	0.92718	0.561000	0.74099	GAC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179398318	C	G	179398318	3	3	355	1	0	0	0	0	1	0	0	0	16735	913	32	3	4975	3	TTN	2	179398318	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	23842530	179398318	63801055	10	19401											
SLC40A1	30061	genome.wustl.edu	37	2	190428442	190428442	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr2:190428442G>T	ENST00000261024.2	-	7	1696	c.1270C>A	c.(1270-1272)Cct>Act	p.P424T		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	424					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTAATTTCAGGTATCTTGGTA	0.418																																																0			2											99	102	101					2																	190428442		2203	4300	6503	190136687	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1270C>A	2.37:g.190428442G>T	ENSP00000261024:p.Pro424Thr		190136687	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086567	0.76642	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.92595	-3.07	5.87	3.1	0.35709	Major facilitator superfamily domain, general substrate transporter (1);	0.294792	0.38381	N	0.001710	D	0.93766	0.8007	M	0.78049	2.395	0.50171	D	0.999856	D	0.61697	0.99	D	0.63877	0.919	D	0.90590	0.4536	10	0.11485	T	0.65	-12.5544	9.4417	0.38673	0.129:0.1187:0.7523:0.0	.	424	Q9NP59	S40A1_HUMAN	T	424;159	ENSP00000261024:P424T	ENSP00000261024:P424T	P	-	1	0	SLC40A1	190136687	0.079000	0.21365	0.899000	0.35326	0.374000	0.29953	0.206000	0.17375	0.381000	0.24851	0.650000	0.86243	CCT		0.418	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			T	190428442	G	T	190428442	3	4	355	1	0	0	0	0	1	0	0	0	14631	1261	44	3	453	3	SLC40A1	2	190428442	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	11030124	190428442	52770931	11	19402											
DNAH7	56171	genome.wustl.edu	37	2	196759815	196759815	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr2:196759815T>A	ENST00000312428.6	-	30	4881	c.4781A>T	c.(4780-4782)cAa>cTa	p.Q1594L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1594	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCATATACTTGAAGAATCTT	0.373																																																0			2											96	88	90					2																	196759815		1842	4096	5938	196468060	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4781A>T	2.37:g.196759815T>A	ENSP00000311273:p.Gln1594Leu		196468060	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556418	0.86231	.	.	ENSG00000118997	ENST00000312428	T	0.38240	1.15	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85323	0.1085	10	0.87932	D	0	.	15.0066	0.71516	0.0:0.0:0.0:1.0	.	1594	Q8WXX0	DYH7_HUMAN	L	1594	ENSP00000311273:Q1594L	ENSP00000311273:Q1594L	Q	-	2	0	DNAH7	196468060	1.000000	0.71417	0.995000	0.50966	0.795000	0.44927	7.868000	0.87116	2.218000	0.71995	0.533000	0.62120	CAA		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		A	196759815	T	A	196759815	3	1	355	1	0	0	0	0	1	0	0	0	4606	1812	63	5	7437	5	DNAH7	2	196759815	Missense_Mutation	SNP	T	TCGA-29-1785-01A-01W-0633-09	6331373	196759815	46439558	12	19403											
SPHKAP	80309	genome.wustl.edu	37	2	228881944	228881944	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr2:228881944C>A	ENST00000392056.3	-	7	3672	c.3626G>T	c.(3625-3627)aGt>aTt	p.S1209I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1209I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1209						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGGAGGCACTTTCTCTGCT	0.577																																																0			2											95	94	94					2																	228881944		2203	4300	6503	228590188	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3626G>T	2.37:g.228881944C>A	ENSP00000375909:p.Ser1209Ile		228590188	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	2.781	-0.253603	0.05829	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.44083	0.93;0.93	5.87	3.13	0.36017	.	0.802103	0.12142	N	0.495739	T	0.40546	0.1121	L	0.47716	1.5	0.09310	N	1	P;P;D	0.54397	0.898;0.855;0.966	B;B;P	0.50708	0.352;0.36;0.648	T	0.16070	-1.0415	10	0.28530	T	0.3	.	4.4631	0.11676	0.1572:0.5947:0.0:0.2481	.	240;1209;1209	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	I	1209	ENSP00000375909:S1209I;ENSP00000339886:S1209I	ENSP00000339886:S1209I	S	-	2	0	SPHKAP	228590188	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.088000	0.14979	0.410000	0.25675	-0.122000	0.15005	AGT		0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228881944	C	A	228881944	3	1	355	1	0	0	0	0	1	0	0	0	15050	565	20	3	1500	3	SPHKAP	2	228881944	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	32122129	228881944	14317429	13	19404											
CEP63	80254	genome.wustl.edu	37	3	134278230	134278230	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr3:134278230A>G	ENST00000337090.3	+	14	2085	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	CEP63_ENST00000606977.1_Missense_Mutation_p.M638V|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.M638V			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	638					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCTGACACTATGTCTGAGAG	0.358																																																0			3											75	72	73					3																	134278230		2203	4300	6503	135760920	SO:0001583	missense	80254			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1912A>G	3.37:g.134278230A>G	ENSP00000336524:p.Met638Val		135760920	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.700053	0.00725	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.16457	2.34;2.34	4.8	-3.31	0.04988	.	0.956991	0.08589	N	0.923323	T	0.05135	0.0137	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40534	-0.9558	10	0.27082	T	0.32	0.2622	5.492	0.16781	0.482:0.2896:0.2284:0.0	.	638	Q96MT8	CEP63_HUMAN	V	638	ENSP00000336524:M638V;ENSP00000426129:M638V	ENSP00000336524:M638V	M	+	1	0	CEP63	135760920	0.000000	0.05858	0.723000	0.30687	0.130000	0.20726	-1.640000	0.02009	-0.280000	0.09154	-0.137000	0.14449	ATG		0.358	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		G	134278230	A	G	134278230	3	3	355	1	0	0	0	0	1	0	0	0	3257	449	16	4	1962	4	CEP63	3	134278230	Missense_Mutation	SNP	A	TCGA-29-1785-01A-01W-0633-09		134278230	63744200	14	19405											
MED12L	116931	genome.wustl.edu	37	3	151107798	151107798	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr3:151107798C>A	ENST00000474524.1	+	36	5416	c.5378C>A	c.(5377-5379)cCt>cAt	p.P1793H	MED12L_ENST00000273432.4_Missense_Mutation_p.P1653H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1793						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACCGAGTGCCTCCTAATTAC	0.448																																																0			3											165	156	159					3																	151107798		2203	4300	6503	152590488	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5378C>A	3.37:g.151107798C>A	ENSP00000417235:p.Pro1793His		152590488	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229121	0.58777	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.61274	0.33;0.12	5.73	5.73	0.89815	.	0.286088	0.35235	N	0.003344	T	0.66436	0.2789	L	0.27053	0.805	0.44985	D	0.998003	P;D	0.76494	0.924;0.999	B;D	0.77557	0.443;0.99	T	0.68838	-0.5303	10	0.66056	D	0.02	-8.0723	17.6747	0.88227	0.0:1.0:0.0:0.0	.	1653;1793	F8WAE6;Q86YW9	.;MD12L_HUMAN	H	1793;1653	ENSP00000417235:P1793H;ENSP00000273432:P1653H	ENSP00000273432:P1653H	P	+	2	0	MED12L	152590488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.204000	0.65180	2.707000	0.92482	0.561000	0.74099	CCT		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		A	151107798	C	A	151107798	3	1	355	1	0	0	0	0	1	0	0	0	9429	681	24	3	5520	3	MED12L	3	151107798	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	16829568	151107798	46914632	15	19406											
PLCH1	23007	genome.wustl.edu	37	3	155198866	155198866	+	Missense_Mutation	SNP	G	G	A	rs144969124	byFrequency	TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr3:155198866G>A	ENST00000340059.7	-	23	4972	c.4973C>T	c.(4972-4974)aCg>aTg	p.T1658M	PLCH1_ENST00000460012.1_Missense_Mutation_p.T1620M|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1620M|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1620M	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1658					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGAAGAGCCGTGCATGCCCC	0.512													G|||	4	0.000798722	0	0	5008	,	,		17585	0.004		0	False		,,,				2504	0															0			3						G	MET/THR,,MET/THR	1,4405	2.1+/-5.4	0,1,2202	48	52	51		4973,,4859	3.3	0.1	3	dbSNP_134	51	0,8600		0,0,4300	yes	missense,utr-3,missense	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	81,,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,,possibly-damaging	1658/1694,,1620/1656	155198866	1,13005	2203	4300	6503	156681560	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4973C>T	3.37:g.155198866G>A	ENSP00000345988:p.Thr1658Met		156681560	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	9.692	1.152078	0.21371	2.27E-4	0.0	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.29917	1.55;1.56;1.55;1.55	5.26	3.35	0.38373	.	1.305670	0.05147	N	0.495437	T	0.22085	0.0532	L	0.40543	1.245	0.37273	D	0.907509	B;B	0.23735	0.063;0.09	B;B	0.18263	0.021;0.009	T	0.13335	-1.0513	10	0.87932	D	0	.	9.5869	0.39521	0.0752:0.0:0.7845:0.1403	.	1620;1658	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	M	1620;1658;1620;1620	ENSP00000417502:T1620M;ENSP00000345988:T1658M;ENSP00000335469:T1620M;ENSP00000412977:T1620M	ENSP00000335469:T1620M	T	-	2	0	PLCH1	156681560	0.937000	0.31787	0.070000	0.20053	0.268000	0.26511	5.114000	0.64648	1.205000	0.43262	0.655000	0.94253	ACG		0.512	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		A	155198866	G	A	155198866	3	1	355	1	0	0	0	0	1	0	0	0	12037	1145	40	1	112	1	PLCH1	3	155198866	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	4091068	155198866	42823564	16	19407											
FGA	2243	genome.wustl.edu	37	4	155505510	155505510	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr4:155505510G>T	ENST00000302053.3	-	6	2445	c.2367C>A	c.(2365-2367)gaC>gaA	p.D789E		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	789	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTGCATCCCTGTCAAAGGTGC	0.517																																					NSCLC(143;340 1922 20892 22370 48145)											0			4											136	126	129					4																	155505510		2203	4300	6503	155724960	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2367C>A	4.37:g.155505510G>T	ENSP00000306361:p.Asp789Glu		155724960	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599162	0.66332	.	.	ENSG00000171560	ENST00000302053	D	0.85773	-2.03	5.7	4.68	0.58851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93223	0.7841	M	0.93763	3.455	0.80722	D	1	D	0.64830	0.994	D	0.73708	0.981	D	0.93594	0.6924	10	0.66056	D	0.02	.	10.3011	0.43653	0.2019:0.0:0.798:0.0	.	789	P02671	FIBA_HUMAN	E	789	ENSP00000306361:D789E	ENSP00000306361:D789E	D	-	3	2	FGA	155724960	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.939000	0.48995	2.690000	0.91761	0.650000	0.86243	GAC		0.517	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		T	155505510	G	T	155505510	3	4	355	1	0	0	0	0	1	0	0	0	5830	1368	48	3	237	3	FGA	4	155505510	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09		155505510	35648766	17	19408											
SLC25A4	291	genome.wustl.edu	37	4	186066219	186066241	+	Frame_Shift_Del	DEL	GGACCAGGTTGGCTGCTGATGTG	GGACCAGGTTGGCTGCTGATGTG	-			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	GGACCAGGTTGGCTGCTGATGTG	GGACCAGGTTGGCTGCTGATGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr4:186066219_186066241delGGACCAGGTTGGCTGCTGATGTG	ENST00000281456.6	+	2	545_567	c.413_435delGGACCAGGTTGGCTGCTGATGTG	c.(412-435)aggaccaggttggctgctgatgtgfs	p.RTRLAADV138fs		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	138					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GACTTTGCTAGGACCAGGTTGGCTGCTGATGTGGGCAAGGGCG	0.601																																																0			4																																								186303235	SO:0001589	frameshift_variant	291			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"Solute carriers"	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.413_435delGGACCAGGTTGGCTGCTGATGTG	4.37:g.186066219_186066241delGGACCAGGTTGGCTGCTGATGTG	ENSP00000281456:p.Arg138fs		186303213	D3DP59	Frame_Shift_Del	DEL	ENST00000281456.6	37	CCDS34114.1																																																																																				0.601	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151		-	186066241	GGACCAGGTTGGCTGCTGATGTG	-	186066219	7	5	355	1	0	1	0	1	0	0	0	0	14507	1000	35	0	419	0	SLC25A4	4	186066219	Frame_Shift_Del	DEL	GGACCAGGTTGGCTGCTGATGTG	TCGA-29-1785-01A-01W-0633-09	30560709	186066219	5088057	18	19409											
DDX4	54514	genome.wustl.edu	37	5	55088496	55088496	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr5:55088496G>A	ENST00000505374.1	+	17	1422	c.1330G>A	c.(1330-1332)Gtt>Att	p.V444I	DDX4_ENST00000511853.1_Missense_Mutation_p.V295I|DDX4_ENST00000354991.5_Missense_Mutation_p.V410I|DDX4_ENST00000353507.5_Missense_Mutation_p.V410I|DDX4_ENST00000514278.2_Missense_Mutation_p.V424I	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	444	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CAAATACTTAGTTTTGGATGA	0.343																																																0			5											64	63	63					5																	55088496		2203	4300	6503	55124253	SO:0001583	missense	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1330G>A	5.37:g.55088496G>A	ENSP00000424838:p.Val444Ile		55124253	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444040	0.63067	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.39	5.39	0.77823	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.130467	0.49305	D	0.000145	T	0.41949	0.1181	L	0.33753	1.03	0.58432	D	0.999999	P;P;P;D	0.69078	0.682;0.688;0.682;0.997	B;B;B;D	0.77557	0.365;0.262;0.365;0.99	T	0.07083	-1.0791	10	0.33940	T	0.23	-16.9927	19.5193	0.95179	0.0:0.0:1.0:0.0	.	424;295;410;444	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	I	410;424;444;424;410;295	ENSP00000334167:V410I;ENSP00000425359:V424I;ENSP00000424838:V444I;ENSP00000427167:V424I;ENSP00000347087:V410I;ENSP00000423123:V295I	ENSP00000334167:V410I	V	+	1	0	DDX4	55124253	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.405000	0.97313	2.687000	0.91594	0.561000	0.74099	GTT		0.343	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		A	55088496	G	A	55088496	3	1	355	1	0	0	0	0	1	0	0	0	4360	1029	36	2	1433	2	DDX4	5	55088496	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09		55088496	125826764	19	19410											
RHOBTB3	22836	genome.wustl.edu	37	5	95088016	95088016	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr5:95088016C>G	ENST00000379982.3	+	5	1152	c.644C>G	c.(643-645)tCc>tGc	p.S215C	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	215					ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATGAGCAACTCCTTTCATGGA	0.328																																																0			5											110	116	114					5																	95088016		2203	4300	6503	95113772	SO:0001583	missense	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.644C>G	5.37:g.95088016C>G	ENSP00000369318:p.Ser215Cys		95113772	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736155	0.49045	.	.	ENSG00000164292	ENST00000379982	T	0.65364	-0.15	5.4	4.41	0.53225	.	0.160540	0.53938	D	0.000049	T	0.38081	0.1027	N	0.08118	0	0.80722	D	1	P	0.45078	0.85	B	0.37780	0.258	T	0.42565	-0.9444	10	0.56958	D	0.05	-13.8266	10.067	0.42311	0.2476:0.7524:0.0:0.0	.	215	O94955	RHBT3_HUMAN	C	215	ENSP00000369318:S215C	ENSP00000369318:S215C	S	+	2	0	RHOBTB3	95113772	0.836000	0.29430	0.958000	0.39756	0.902000	0.53008	2.114000	0.41911	2.684000	0.91462	0.585000	0.79938	TCC		0.328	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		G	95088016	C	G	95088016	3	3	355	1	0	0	0	0	1	0	0	0	13338	855	30	3	662	3	RHOBTB3	5	95088016	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	39999520	95088016	85827244	20	19411											
C5orf48	389320	genome.wustl.edu	37	5	125971795	125971795	+	Silent	SNP	T	T	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr5:125971795T>C	ENST00000357147.3	+	3	280	c.267T>C	c.(265-267)ctT>ctC	p.L89L		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		89										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						GTGAAAGGCTTTGCCATGGGG	0.423																																																0			5											138	144	142					5																	125971795		2203	4300	6503	125999694	SO:0001819	synonymous_variant	389320																														ENST00000357147.3:c.267T>C	5.37:g.125971795T>C			125999694		Silent	SNP	ENST00000357147.3	37	CCDS4139.1																																																																																				0.423	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			C	125971795	T	C	125971795	2	2	355	1	0	0	0	0	0	0	0	1	2306	1828	64	4		4	C5orf48	5	125971795	Silent	SNP	T	TCGA-29-1785-01A-01W-0633-09	30883779	125971795	54943465	21	19412											
PSD2	84249	genome.wustl.edu	37	5	139189190	139189190	+	Silent	SNP	G	G	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr5:139189190G>A	ENST00000274710.3	+	2	370	c.165G>A	c.(163-165)gcG>gcA	p.A55A		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	55					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCCAGCGGACACTGAGG	0.642																																																0			5											61	65	63					5																	139189190		2203	4300	6503	139169374	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.165G>A	5.37:g.139189190G>A			139169374	D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																				0.642	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		A	139189190	G	A	139189190	2	1	355	1	0	0	0	0	0	0	0	1	12650	1103	39	1		1	PSD2	5	139189190	Silent	SNP	G	TCGA-29-1785-01A-01W-0633-09	13217395	139189190	41726070	22	19413											
SGCD	6444	genome.wustl.edu	37	5	155771527	155771527	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr5:155771527G>A	ENST00000435422.3	+	2	516	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	SGCD_ENST00000517913.1_Missense_Mutation_p.R11Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R11Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R11Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	10					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTCACCACCGGAGCACCATG	0.478																																																0			5											111	112	112					5																	155771527		1951	4165	6116	155704105	SO:0001583	missense	6444			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.29G>A	5.37:g.155771527G>A	ENSP00000403003:p.Arg10Gln		155704105	A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099751	0.56183	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	T;D;D;T	0.85773	1.52;-2.01;-2.03;1.52	5.59	5.59	0.84812	.	0.051785	0.64402	D	0.000001	D	0.88112	0.6349	L	0.35487	1.065	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.83275	0.968;0.986;0.996	D	0.83447	0.0046	10	0.13108	T	0.6	0.2039	19.6056	0.95580	0.0:0.0:1.0:0.0	.	10;11;11	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Q	11;10;11;11	ENSP00000429378:R11Q;ENSP00000403003:R10Q;ENSP00000338343:R11Q;ENSP00000408324:R11Q	ENSP00000338343:R11Q	R	+	2	0	SGCD	155704105	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.731000	0.98807	2.625000	0.88918	0.655000	0.94253	CGG		0.478	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			A	155771527	G	A	155771527	3	1	355	1	0	0	0	0	1	0	0	0	14204	1116	39	1	38	1	SGCD	5	155771527	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	16582337	155771527	25143733	23	19414											
ATP10B	23120	genome.wustl.edu	37	5	160034016	160034016	+	Silent	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr5:160034016C>T	ENST00000327245.5	-	19	3762	c.2916G>A	c.(2914-2916)aaG>aaA	p.K972K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	972					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCAAAGAGCTTGCGGTCTG	0.448																																																0			5											113	107	109					5																	160034016		1950	4130	6080	159966594	SO:0001819	synonymous_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2916G>A	5.37:g.160034016C>T			159966594	Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																				0.448	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		T	160034016	C	T	160034016	2	4	355	1	0	0	0	0	0	0	0	1	1117	796	28	2		2	ATP10B	5	160034016	Silent	SNP	C	TCGA-29-1785-01A-01W-0633-09	4262489	160034016	20881244	24	19415											
BAI3	577	genome.wustl.edu	37	6	70034877	70034877	+	Silent	SNP	A	A	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr6:70034877A>G	ENST00000370598.1	+	21	3749	c.2928A>G	c.(2926-2928)acA>acG	p.T976T	BAI3_ENST00000238918.8_Silent_p.T182T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	976					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAATTAGGACACGGCTTATAA	0.408																																																0			6											203	193	196					6																	70034877		2203	4300	6503	70091598	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2928A>G	6.37:g.70034877A>G			70091598	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.408	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			G	70034877	A	G	70034877	2	3	355	1	0	0	0	0	0	0	0	1	1300	146	6	4		4	BAI3	6	70034877	Silent	SNP	A	TCGA-29-1785-01A-01W-0633-09		70034877	101080190	25	19416											
LANCL2	55915	genome.wustl.edu	37	7	55459485	55459485	+	Splice_Site	SNP	G	G	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr7:55459485G>C	ENST00000254770.2	+	2	782		c.e2-1			NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)						negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TTGGATCTCAGATCATTCATA	0.368																																																0			7											57	57	57					7																	55459485		2203	4300	6503	55426979	SO:0001630	splice_region_variant	55915			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.205-1G>C	7.37:g.55459485G>C			55426979	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Splice_Site	SNP	ENST00000254770.2	37	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348668	0.82132	.	.	ENSG00000132434	ENST00000254770	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5771	0.91159	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LANCL2	55426979	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	6.903000	0.75703	2.727000	0.93392	0.655000	0.94253	.		0.368	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697	Intron	C	55459485	G	C	55459485	5	2	355	1	0	0	0	0	0	0	1	0	8621	956	33	3	210	3	LANCL2	7	55459485	Splice_Site	SNP	G	TCGA-29-1785-01A-01W-0633-09		55459485	103679178	26	19417											
CSMD3	114788	genome.wustl.edu	37	8	114290914	114290914	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr8:114290914G>A	ENST00000297405.5	-	3	665	c.421C>T	c.(421-423)Cca>Tca	p.P141S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P141S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P141S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P101S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	141	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGGAGGTGGCAGATGGAAT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											108	98	101					8																	114290914		2203	4299	6502	114360090	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.421C>T	8.37:g.114290914G>A	ENSP00000297405:p.Pro141Ser		114360090	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493620	0.64186	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.18	5.18	0.71444	CUB (5);	0.000000	0.64402	D	0.000011	T	0.58177	0.2104	M	0.67700	2.07	0.42109	D	0.991373	D;D;D;D	0.89917	0.996;1.0;0.999;0.977	D;D;D;P	0.83275	0.986;0.996;0.996;0.857	T	0.54997	-0.8209	10	0.34782	T	0.22	.	16.5442	0.84410	0.0:0.0:1.0:0.0	.	141;141;141;101	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	S	101;141;141;141	ENSP00000345799:P101S;ENSP00000297405:P141S;ENSP00000412263:P141S;ENSP00000343124:P141S	ENSP00000297405:P141S	P	-	1	0	CSMD3	114360090	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.162000	0.94745	2.561000	0.86390	0.543000	0.68304	CCA		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	114290914	G	A	114290914	3	1	355	1	0	0	0	0	1	0	0	0	3946	1203	42	2	10978	2	CSMD3	8	114290914	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09		114290914	32073108	27	19418											
FOXH1	8928	genome.wustl.edu	37	8	145701125	145701125	+	Silent	SNP	G	G	A	rs374587860	byFrequency	TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr8:145701125G>A	ENST00000377317.4	-	1	593	c.15C>T	c.(13-15)agC>agT	p.S5S	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	5					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCGGGAGCCGCTGCAGGGCC	0.701													G|||	2	0.000399361	0	0.0014	5008	,	,		9101	0		0.001	False		,,,				2504	0															0			8						G		0,4108		0,0,2054	5	5	5		15	2	0.3	8		5	2,8130		0,2,4064	no	coding-synonymous	FOXH1	NM_003923.2		0,2,6118	AA,AG,GG		0.0246,0.0,0.0163		5/366	145701125	2,12238	2054	4066	6120	145671933	SO:0001819	synonymous_variant	8928			AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"Forkhead boxes"	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.15C>T	8.37:g.145701125G>A			145671933	D3DWM4	Silent	SNP	ENST00000377317.4	37	CCDS6428.1																																																																																				0.701	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1			A	145701125	G	A	145701125	2	1	355	1	0	0	0	0	0	0	0	1	6008	1078	38	1		1	FOXH1	8	145701125	Silent	SNP	G	TCGA-29-1785-01A-01W-0633-09	31410211	145701125	662897	28	19419											
SMU1	55234	genome.wustl.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466		TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	8e-04	0	5008	,	,		19589	0		0	False		,,,				2504	0															0			9						G		10,4396	17.9+/-39.9	0,10,2193	191	152	166		453	-0.1	1	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	33058870	SO:0001819	synonymous_variant	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A			33058870	B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		A	33068870	G	A	33068870	2	1	355	1	0	0	0	0	0	0	0	1	14820	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-29-1785-01A-01W-0633-09		33068870	108144561	29	19420											
HSD17B3	3293	genome.wustl.edu	37	9	99003178	99003178	+	Silent	SNP	T	T	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr9:99003178T>C	ENST00000375263.3	-	10	731	c.684A>G	c.(682-684)ccA>ccG	p.P228P	HSD17B3_ENST00000375262.2_Intron|HSD17B3_ENST00000464104.1_5'UTR	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	228					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				AGACAGCATATGGGGTCAGCA	0.433																																																0			9											123	114	117					9																	99003178		2203	4300	6503	98042999	SO:0001819	synonymous_variant	3293				CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5212	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 2"	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.684A>G	9.37:g.99003178T>C			98042999	Q5U0Q6	Silent	SNP	ENST00000375263.3	37	CCDS6716.1																																																																																				0.433	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		C	99003178	T	C	99003178	2	2	355	1	0	0	0	0	0	0	0	1	7385	1451	51	4		4	HSD17B3	9	99003178	Silent	SNP	T	TCGA-29-1785-01A-01W-0633-09	65934308	99003178	42210253	30	19421											
SVEP1	79987	genome.wustl.edu	37	9	113252037	113252037	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr9:113252037G>C	ENST00000401783.2	-	9	2159	c.1823C>G	c.(1822-1824)gCt>gGt	p.A608G	SVEP1_ENST00000302728.8_Missense_Mutation_p.A608G|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A585G|SVEP1_ENST00000374461.1_Missense_Mutation_p.A585G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	608	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGGGTGAAAGCTGGATGAAC	0.393																																																0			9											162	155	157					9																	113252037		1934	4143	6077	112291858	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1823C>G	9.37:g.113252037G>C	ENSP00000384917:p.Ala608Gly		112291858	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860117	0.71834	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.85	4.85	0.62838	Hyalin (2);	0.116034	0.64402	D	0.000020	T	0.31040	0.0784	N	0.20401	0.57	0.32336	N	0.560412	D;D;P	0.76494	0.978;0.999;0.952	P;D;P	0.70227	0.829;0.968;0.6	T	0.25293	-1.0136	10	0.28530	T	0.3	.	17.9412	0.89027	0.0:0.0:1.0:0.0	.	608;608;608	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	G	608;585;608;585	ENSP00000384917:A608G;ENSP00000363593:A585G;ENSP00000304118:A608G;ENSP00000363585:A585G	ENSP00000304118:A608G	A	-	2	0	SVEP1	112291858	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.915000	0.75770	2.247000	0.74100	0.563000	0.77884	GCT		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113252037	G	C	113252037	3	2	355	1	0	0	0	0	1	0	0	0	15420	971	34	3	9052	3	SVEP1	9	113252037	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	14248859	113252037	27961394	31	19422											
C5	727	genome.wustl.edu	37	9	123769251	123769251	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr9:123769251G>C	ENST00000223642.1	-	19	2382	c.2353C>G	c.(2353-2355)Cag>Gag	p.Q785E	C5_ENST00000466280.1_5'Flank	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	785					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AACTGCAACTGTTTTCTGGAA	0.353																																																0			9											97	93	94					9																	123769251		2203	4300	6503	122809072	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.2353C>G	9.37:g.123769251G>C	ENSP00000223642:p.Gln785Glu		122809072	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.458902	0.00173	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.24350	1.86	5.8	2.59	0.31030	Alpha-2-macroglobulin (1);	0.477765	0.21649	N	0.071215	T	0.13500	0.0327	N	0.21545	0.675	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31668	-0.9935	10	0.09590	T	0.72	.	8.2688	0.31831	0.0:0.1183:0.3721:0.5096	.	785	P01031	CO5_HUMAN	E	785;856	ENSP00000223642:Q785E	ENSP00000223642:Q785E	Q	-	1	0	C5	122809072	0.005000	0.15991	0.008000	0.14137	0.010000	0.07245	0.722000	0.25925	0.738000	0.32606	0.563000	0.77884	CAG		0.353	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		C	123769251	G	C	123769251	3	2	355	1	0	0	0	0	1	0	0	0	2280	1386	48	3	2769	3	C5	9	123769251	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	10517214	123769251	17444180	32	19423											
DOLPP1	57171	genome.wustl.edu	37	9	131847014	131847014	+	Silent	SNP	G	G	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr9:131847014G>C	ENST00000372546.4	+	2	176	c.144G>C	c.(142-144)gtG>gtC	p.V48V	DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Silent_p.V48V	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	48					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TCGGTTTCGTGACCCTCATCA	0.587																																																0			9											368	333	345					9																	131847014		2203	4300	6503	130886835	SO:0001819	synonymous_variant	57171			BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"linked to Surfeit genes in Fugu rubripes 2"	614516	"dolichyl pyrophosphate phosphatase 1"			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.144G>C	9.37:g.131847014G>C			130886835	A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Silent	SNP	ENST00000372546.4	37	CCDS6918.1																																																																																				0.587	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		C	131847014	G	C	131847014	2	2	355	1	0	0	0	0	0	0	0	1	4704	1277	45	3		3	DOLPP1	9	131847014	Silent	SNP	G	TCGA-29-1785-01A-01W-0633-09	8077763	131847014	9366417	33	19424											
FAM166A	401565	genome.wustl.edu	37	9	140138736	140138737	+	Frame_Shift_Del	DEL	AG	AG	-	rs570890546|rs113461609	byFrequency	TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	AG	AG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr9:140138736_140138737delAG	ENST00000344774.4	-	6	805_806	c.751_752delCT	c.(751-753)ctgfs	p.L251fs		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	251						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GTTTCTAAACAGGAACTGGGGA	0.604														10	0.00199681	8e-04	0.0014	5008	,	,		19070	0		0.008	False		,,,				2504	0															0			9								9,4253		0,9,2122						-2.1	0			80	51,8203		0,51,4076	no	frameshift	FAM166A	NM_001001710.1		0,60,6198	A1A1,A1R,RR		0.6179,0.2112,0.4794				60,12456				139258558	SO:0001589	frameshift_variant	401565			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.751_752delCT	9.37:g.140138736_140138737delAG	ENSP00000344729:p.Leu251fs		139258557	A6NND9|Q8N830	Frame_Shift_Del	DEL	ENST00000344774.4	37	CCDS35186.1																																																																																				0.604	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		-	140138737	AG	-	140138736	7	5	355	1	0	1	0	1	0	0	0	0	5481	188	7	0	209	0	FAM166A	9	140138736	Frame_Shift_Del	DEL	AG	TCGA-29-1785-01A-01W-0633-09	8291722	140138736	1074695	34	19425											
MTPAP	55149	genome.wustl.edu	37	10	30629203	30629203	+	Silent	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr10:30629203C>T	ENST00000263063.4	-	3	550	c.507G>A	c.(505-507)ttG>ttA	p.L169L	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Silent_p.L299L	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	169					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTGAACGTGGCAACTGATTAC	0.383																																																0			10											113	104	107					10																	30629203		2203	4300	6503	30669209	SO:0001819	synonymous_variant	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.507G>A	10.37:g.30629203C>T			30669209	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	37	CCDS7165.1																																																																																				0.383	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		T	30629203	C	T	30629203	2	4	355	1	0	0	0	0	0	0	0	1	9956	709	25	2		2	MTPAP	10	30629203	Silent	SNP	C	TCGA-29-1785-01A-01W-0633-09		30629203	104905544	35	19426											
ZNF485	220992	genome.wustl.edu	37	10	44112356	44112356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr10:44112356delC	ENST00000361807.3	+	5	1059	c.865delC	c.(865-867)cagfs	p.Q289fs	ZNF485_ENST00000374435.3_Frame_Shift_Del_p.Q289fs|ZNF485_ENST00000374437.2_Frame_Shift_Del_p.Q198fs	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GTTGGAACATCAGAAAATCCA	0.393																																																0			10											75	81	79					10																	44112356		2203	4300	6503	43432362	SO:0001589	frameshift_variant	220992			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.865delC	10.37:g.44112356delC	ENSP00000354694:p.Gln289fs		43432362	B4DSE6|Q96CL0	Frame_Shift_Del	DEL	ENST00000361807.3	37	CCDS7205.2																																																																																				0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		-	44112356	C	-	44112356	7	5	355	1	0	1	0	1	0	0	0	0	17938	827	29	0	879	0	ZNF485	10	44112356	Frame_Shift_Del	DEL	C	TCGA-29-1785-01A-01W-0633-09	13483153	44112356	91422391	36	19427											
KCNQ1	3784	genome.wustl.edu	37	11	2683225	2683225	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr11:2683225G>T	ENST00000155840.5	+	11	1536	c.1428G>T	c.(1426-1428)atG>atT	p.M476I	KCNQ1_ENST00000335475.5_Missense_Mutation_p.M349I|KCNQ1OT1_ENST00000597346.1_RNA	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	476					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AAGTGAGCATGCCCCATTTCA	0.572																																																0			11											163	148	153					11																	2683225		2202	4299	6501	2639801	SO:0001583	missense	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1428G>T	11.37:g.2683225G>T	ENSP00000155840:p.Met476Ile		2639801	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	G	2.185	-0.386559	0.04966	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99582	-6.22;-6.22	4.28	-8.57	0.00900	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.979822	0.08336	N	0.961573	D	0.95667	0.8591	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	D	0.93339	0.6708	10	0.29301	T	0.29	-0.7116	2.9677	0.05912	0.4732:0.1908:0.2404:0.0957	.	349;349;476	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	I	476;349	ENSP00000155840:M476I;ENSP00000334497:M349I	ENSP00000155840:M476I	M	+	3	0	KCNQ1	2639801	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-1.665000	0.01965	-2.463000	0.00535	-2.069000	0.00389	ATG		0.572	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		T	2683225	G	T	2683225	3	4	355	1	0	0	0	0	1	0	0	0	8082	1319	46	3	1479	3	KCNQ1	11	2683225	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09		2683225	132323291	37	19428											
TPP1	1200	genome.wustl.edu	37	11	6638339	6638339	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr11:6638339C>T	ENST00000299427.6	-	6	614	c.554G>A	c.(553-555)cGt>cAt	p.R185H	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000533371.1_5'UTR	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	CGGCTCAGGACGTTGCCTCAG	0.557																																																0			11											79	77	78					11																	6638339		2201	4296	6497	6594915	SO:0001583	missense	1200			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.554G>A	11.37:g.6638339C>T	ENSP00000299427:p.Arg185His		6594915	Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	9.329	1.060017	0.19987	.	.	ENSG00000166340	ENST00000299427	T	0.62788	0.0	4.58	2.72	0.32119	Proteinase inhibitor, propeptide (1);	0.924184	0.09375	N	0.810812	T	0.43964	0.1271	L	0.29908	0.895	0.24581	N	0.993874	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	10	0.13470	T	0.59	-7.7673	4.36	0.11197	0.0:0.5615:0.1659:0.2726	.	185	O14773	TPP1_HUMAN	H	185	ENSP00000299427:R185H	ENSP00000299427:R185H	R	-	2	0	TPP1	6594915	0.038000	0.19896	0.952000	0.39060	0.762000	0.43233	1.994000	0.40757	0.563000	0.29222	-0.378000	0.06908	CGT		0.557	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			T	6638339	C	T	6638339	3	4	355	1	0	0	0	0	1	0	0	0	16411	536	19	1	1169	1	TPP1	11	6638339	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	3955114	6638339	128368177	38	19429											
TUB	7275	genome.wustl.edu	37	11	8120396	8120396	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr11:8120396C>T	ENST00000299506.2	+	9	1239	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	TUB_ENST00000534099.1_Missense_Mutation_p.R370C|TUB_ENST00000305253.4_Missense_Mutation_p.R419C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	364					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TGGAACCTTACGTCAGGAGCT	0.493											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											131	122	125					11																	8120396		2201	4296	6497	8076972	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1090C>T	11.37:g.8120396C>T	ENSP00000299506:p.Arg364Cys	646	8076972	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526343	0.85600	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86297	-2.1;-2.1;-2.1	5.27	4.3	0.51218	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.96655	0.9484	10	0.87932	D	0	-0.1583	15.7875	0.78319	0.1363:0.8637:0.0:0.0	.	370;364;419	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	C	370;419;364	ENSP00000434400:R370C;ENSP00000305426:R419C;ENSP00000299506:R364C	ENSP00000299506:R364C	R	+	1	0	TUB	8076972	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.066000	0.71185	2.610000	0.88304	0.555000	0.69702	CGT		0.493	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		T	8120396	C	T	8120396	3	4	355	1	0	0	0	0	1	0	0	0	16742	536	19	1	1335	1	TUB	11	8120396	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	1482057	8120396	126886120	39	19430											
PLEKHA7	144100	genome.wustl.edu	37	11	16847922	16847922	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr11:16847922G>T	ENST00000355661.3	-	10	1098	c.1088C>A	c.(1087-1089)tCt>tAt	p.S363Y	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S363Y|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S363Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	363					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGAGTACGGAGACCTGGCCTT	0.602																																																0			11											69	59	63					11																	16847922		2200	4294	6494	16804498	SO:0001583	missense	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1088C>A	11.37:g.16847922G>T	ENSP00000347883:p.Ser363Tyr		16804498	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367356	0.41902	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.08370	3.1;3.1;3.1	5.16	5.16	0.70880	.	0.807631	0.12209	N	0.489531	T	0.07234	0.0183	N	0.22421	0.69	0.35246	D	0.778295	P;P;D	0.54964	0.947;0.75;0.969	B;B;B	0.41036	0.254;0.123;0.346	T	0.21008	-1.0258	10	0.87932	D	0	-14.8599	10.7351	0.46120	0.0:0.1316:0.7152:0.1532	.	363;363;363	E9PKC0;Q6IQ23;Q6IQ23-2	.;PKHA7_HUMAN;.	Y	363	ENSP00000435389:S363Y;ENSP00000347883:S363Y;ENSP00000416895:S363Y	ENSP00000347883:S363Y	S	-	2	0	PLEKHA7	16804498	1.000000	0.71417	0.996000	0.52242	0.434000	0.31775	3.692000	0.54727	2.692000	0.91855	0.561000	0.74099	TCT		0.602	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		T	16847922	G	T	16847922	3	4	355	1	0	0	0	0	1	0	0	0	12061	942	33	3	2333	3	PLEKHA7	11	16847922	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	8727526	16847922	118158594	40	19431											
METT5D1	196074	genome.wustl.edu	37	11	28232746	28232746	+	Splice_Site	SNP	G	G	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr11:28232746G>A	ENST00000407364.3	+	4	759		c.e4+1		METTL15_ENST00000303459.6_Splice_Site|METTL15_ENST00000406787.3_Splice_Site|METTL15_ENST00000342303.5_Splice_Site			A6NJ78	MET15_HUMAN	methyltransferase like 15								methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGTTGTATCCGTAAGTAATAC	0.383																																																0			11											109	96	100					11																	28232746		2202	4299	6501	28189322	SO:0001630	splice_region_variant	196074			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.407+1G>A	11.37:g.28232746G>A			28189322	A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Splice_Site	SNP	ENST00000407364.3	37	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030213	0.75504	.	.	ENSG00000169519	ENST00000406787;ENST00000342303;ENST00000407364;ENST00000303459	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.004	0.89204	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METTL15	28189322	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.309000	0.72825	2.581000	0.87130	0.460000	0.39030	.		0.383	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636	Intron	A	28232746	G	A	28232746	5	1	355	1	0	0	0	0	0	0	1	0	9492	1159	40	1	414	1	METT5D1	11	28232746	Splice_Site	SNP	G	TCGA-29-1785-01A-01W-0633-09	11384824	28232746	106773770	41	19432											
RARRES3	5920	genome.wustl.edu	37	11	63312250	63312250	+	Silent	SNP	C	C	T	rs548285155		TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr11:63312250C>T	ENST00000255688.3	+	3	324	c.276C>T	c.(274-276)atC>atT	p.I92I	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Silent_p.I92I|RARRES3_ENST00000439013.2_Silent_p.I92I	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	92					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGGAGGTGATCATCAGTTCTG	0.532																																																0			11											117	123	121					11																	63312250		2032	4194	6226	63068826	SO:0001819	synonymous_variant	5920				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.276C>T	11.37:g.63312250C>T			63068826	B2R599|B4DDW2|E7ENZ7|O95200	Silent	SNP	ENST00000255688.3	37	CCDS41662.1																																																																																				0.532	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			T	63312250	C	T	63312250	2	4	355	1	0	0	0	0	0	0	0	1	13060	816	29	2		2	RARRES3	11	63312250	Silent	SNP	C	TCGA-29-1785-01A-01W-0633-09	35079504	63312250	71694266	42	19433											
CABP4	57010	genome.wustl.edu	37	11	67225914	67225914	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr11:67225914C>T	ENST00000325656.5	+	5	801	c.724C>T	c.(724-726)Ccg>Tcg	p.P242S	CTC-1337H24.1_ENST00000602912.1_lincRNA|CABP4_ENST00000438189.2_Missense_Mutation_p.P137S	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	242					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCTCGGGGAGCCGCTGGCGGG	0.627																																																0			11											54	61	59					11																	67225914		2200	4295	6495	66982490	SO:0001583	missense	57010			AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.724C>T	11.37:g.67225914C>T	ENSP00000324960:p.Pro242Ser		66982490	Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168188	0.78339	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	T;T	0.70399	-0.48;-0.48	4.99	4.08	0.47627	EF-hand-like domain (1);	0.130692	0.52532	D	0.000070	T	0.56529	0.1991	N	0.10972	0.075	0.43698	D	0.996157	P;B	0.34934	0.476;0.264	B;B	0.40329	0.326;0.033	T	0.63681	-0.6582	10	0.72032	D	0.01	-19.8115	12.6752	0.56891	0.0:0.9187:0.0:0.0813	.	242;137	P57796;P57796-2	CABP4_HUMAN;.	S	137;242	ENSP00000401555:P137S;ENSP00000324960:P242S	ENSP00000324960:P242S	P	+	1	0	CABP4	66982490	1.000000	0.71417	0.964000	0.40570	0.623000	0.37688	2.594000	0.46189	1.480000	0.48289	0.655000	0.94253	CCG		0.627	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			T	67225914	C	T	67225914	3	4	355	1	0	0	0	0	1	0	0	0	2533	739	26	2	742	2	CABP4	11	67225914	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	3913664	67225914	67780602	43	19434											
CLEC4D	338339	genome.wustl.edu	37	12	8671627	8671627	+	Silent	SNP	T	T	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr12:8671627T>C	ENST00000299665.2	+	4	448	c.255T>C	c.(253-255)ccT>ccC	p.P85P		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	85					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					ACTGTTGTCCTATTGACTGGA	0.443																																																0			12											85	76	79					12																	8671627		2203	4300	6503	8562894	SO:0001819	synonymous_variant	338339			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.255T>C	12.37:g.8671627T>C			8562894	Q8N5J5	Silent	SNP	ENST00000299665.2	37	CCDS8593.1																																																																																				0.443	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		C	8671627	T	C	8671627	2	2	355	1	0	0	0	0	0	0	0	1	3514	1509	53	4		4	CLEC4D	12	8671627	Silent	SNP	T	TCGA-29-1785-01A-01W-0633-09		8671627	125180268	44	19435											
C12orf35	55196	genome.wustl.edu	37	12	32133963	32133985	+	Frame_Shift_Del	DEL	ACCAGTCTTTAATAAACCAAATT	ACCAGTCTTTAATAAACCAAATT	-			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	ACCAGTCTTTAATAAACCAAATT	ACCAGTCTTTAATAAACCAAATT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr12:32133963_32133985delACCAGTCTTTAATAAACCAAATT	ENST00000312561.4	+	4	488_510	c.74_96delACCAGTCTTTAATAAACCAAATT	c.(73-96)caccagtctttaataaaccaaattfs	p.HQSLINQI25fs	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	25																	CCTTTTTTGCACCAGTCTTTAATAAACCAAATTACCACAACAT	0.39																																																0			12																																								32025252	SO:0001589	frameshift_variant	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.74_96delACCAGTCTTTAATAAACCAAATT	12.37:g.32133963_32133985delACCAGTCTTTAATAAACCAAATT	ENSP00000310338:p.His25fs		32025230	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Frame_Shift_Del	DEL	ENST00000312561.4	37	CCDS8725.2																																																																																				0.39	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		-	32133985	ACCAGTCTTTAATAAACCAAATT	-	32133963	7	5	355	1	0	1	0	1	0	0	0	0	1682	159	6	0	76	0	C12orf35	12	32133963	Frame_Shift_Del	DEL	ACCAGTCTTTAATAAACCAAATT	TCGA-29-1785-01A-01W-0633-09	23462336	32133963	101717932	45	19436											
LRP1	4035	genome.wustl.edu	37	12	57584600	57584600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr12:57584600G>A	ENST00000243077.3	+	43	7510	c.7044G>A	c.(7042-7044)tgG>tgA	p.W2348*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2348					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCATGTTCTGGACCAACTGGA	0.602																																																0			12											70	59	63					12																	57584600		2203	4300	6503	55870867	SO:0001587	stop_gained	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7044G>A	12.37:g.57584600G>A	ENSP00000243077:p.Trp2348*		55870867	Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	17.120043|17.120043	0.99879|0.99879	.|.	.|.	ENSG00000123384|ENSG00000123384	ENST00000554118|ENST00000243077	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.084626	.|0.51477	.|D	.|0.000090	T|.	0.43875|.	0.1267|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32241|.	-0.9914|.	4|.	.|0.02654	.|T	.|1	.|.	16.9063|16.9063	0.86128|0.86128	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	34|2348	.|.	.|ENSP00000243077:W2348X	G|W	+|+	2|3	0|0	LRP1|LRP1	55870867|55870867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.739000|0.739000	0.42172|0.42172	9.639000|9.639000	0.98448|0.98448	2.506000|2.506000	0.84524|0.84524	0.542000|0.542000	0.68232|0.68232	GGA|TGG		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57584600	G	A	57584600	4	1	355	1	0	0	0	0	0	1	0	0	8951	1183	41	2	7214	2	LRP1	12	57584600	Nonsense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	25450637	57584600	76267295	46	19437											
CLLU1OS	574016	genome.wustl.edu	37	12	92814938	92814938	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr12:92814938T>A	ENST00000378487.2	-	3	155	c.154A>T	c.(154-156)Aca>Tca	p.T52S	CLLU1OS_ENST00000538965.1_Missense_Mutation_p.T52S|CLLU1_ENST00000378485.1_5'Flank|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	52										large_intestine(1)|lung(7)	8						GGTAAACTTGTTAGCAAGGCC	0.413																																																0			12											121	113	116					12																	92814938		2203	4300	6503	91339069	SO:0001583	missense	574016			AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"chronic lymphocytic leukemia up-regulated 1 overlapping strand"				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.154A>T	12.37:g.92814938T>A	ENSP00000367748:p.Thr52Ser		91339069		Missense_Mutation	SNP	ENST00000378487.2	37	CCDS31871.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.721973	0.30503	.	.	ENSG00000205057	ENST00000378487;ENST00000538965	.	.	.	3.32	2.13	0.27403	.	.	.	.	.	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B	0.33103	0.397	B	0.28638	0.092	T	0.14035	-1.0487	8	0.87932	D	0	.	6.5659	0.22511	0.0:0.0:0.2474:0.7526	.	52	Q5K130	CLU1O_HUMAN	S	52	.	ENSP00000367748:T52S	T	-	1	0	CLLU1OS	91339069	0.001000	0.12720	0.003000	0.11579	0.425000	0.31504	0.113000	0.15499	0.634000	0.30469	0.448000	0.29417	ACA		0.413	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			A	92814938	T	A	92814938	3	1	355	1	0	0	0	0	1	0	0	0	3541	1725	60	5	155	5	CLLU1OS	12	92814938	Missense_Mutation	SNP	T	TCGA-29-1785-01A-01W-0633-09	35230338	92814938	41036957	47	19438											
KIAA1033	23325	genome.wustl.edu	37	12	105543491	105543492	+	In_Frame_Ins	INS	-	-	TTT	rs370839435		TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr12:105543491_105543492insTTT	ENST00000332180.5	+	25	2700_2701	c.2613_2614insTTT	c.(2614-2616)ttt>TTTttt	p.872_872F>FF		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAGATATTCGATTTTTCAGGGA	0.297																																																0			12																																								104067622	SO:0001652	inframe_insertion	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2614_2616dupTTT	12.37:g.105543492_105543494dupTTT	ENSP00000328062:p.Phe873dup		104067621		In_Frame_Ins	INS	ENST00000332180.5	37	CCDS41826.1																																																																																				0.297	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		TTT	105543492	-	TTT	105543491	7	5	355	1	0	1	1	0	0	0	0	0	8206	320	12	0	2711	0	KIAA1033	12	105543491	In_Frame_Ins	INS	-	TCGA-29-1785-01A-01W-0633-09	12728553	105543491	28308404	48	19439											
PLBD2	196463	genome.wustl.edu	37	12	113824765	113824765	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr12:113824765C>T	ENST00000280800.3	+	10	1341	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	PLBD2_ENST00000545182.2_Missense_Mutation_p.A405V	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	437					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGTTCAATGCCAGTGGGCTG	0.632																																																0			12											62	56	58					12																	113824765		2203	4300	6503	112309148	SO:0001583	missense	196463			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1310C>T	12.37:g.113824765C>T	ENSP00000280800:p.Ala437Val		112309148	F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175247	0.38413	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.15952	2.38;2.38	5.33	4.44	0.53790	.	0.049483	0.85682	D	0.000000	T	0.16257	0.0391	L	0.58925	1.835	0.39373	D	0.966124	B;B	0.17038	0.02;0.009	B;B	0.20184	0.028;0.007	T	0.08310	-1.0728	10	0.02654	T	1	-21.3707	13.6194	0.62128	0.0:0.9257:0.0:0.0743	.	405;437	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	V	405;437	ENSP00000443463:A405V;ENSP00000280800:A437V	ENSP00000280800:A437V	A	+	2	0	PLBD2	112309148	0.989000	0.36119	0.956000	0.39512	0.956000	0.61745	1.976000	0.40579	1.244000	0.43870	0.561000	0.74099	GCC		0.632	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		T	113824765	C	T	113824765	3	4	355	1	0	0	0	0	1	0	0	0	12026	739	26	2	1348	2	PLBD2	12	113824765	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	8281274	113824765	20027130	49	19440											
GCN1L1	10985	genome.wustl.edu	37	12	120575510	120575510	+	Silent	SNP	T	T	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr12:120575510T>G	ENST00000300648.6	-	49	6514	c.6502A>C	c.(6502-6504)Agg>Cgg	p.R2168R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2168					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGCTTGCCTCATGCCCACC	0.592																																																0			12											42	51	48					12																	120575510		2132	4246	6378	119059893	SO:0001819	synonymous_variant	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6502A>C	12.37:g.120575510T>G			119059893	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																				0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			G	120575510	T	G	120575510	2	3	355	1	0	0	0	0	0	0	0	1	6299	1550	54	5		5	GCN1L1	12	120575510	Silent	SNP	T	TCGA-29-1785-01A-01W-0633-09	6750745	120575510	13276385	50	19441											
PIWIL1	9271	genome.wustl.edu	37	12	130840123	130840123	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr12:130840123C>G	ENST00000245255.3	+	12	1587	c.1315C>G	c.(1315-1317)Cga>Gga	p.R439G		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	439					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AAGGGAGCTTCGAGACTGGGG	0.393																																																0			12											204	212	210					12																	130840123		2203	4300	6503	129406076	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1315C>G	12.37:g.130840123C>G	ENSP00000245255:p.Arg439Gly		129406076	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470113	0.43839	.	.	ENSG00000125207	ENST00000245255	T	0.05382	3.45	5.48	5.48	0.80851	Ribonuclease H-like (1);	0.462111	0.24573	N	0.037365	T	0.07188	0.0182	L	0.28115	0.83	0.31829	N	0.624942	B;B	0.17667	0.023;0.002	B;B	0.13407	0.008;0.009	T	0.05435	-1.0885	10	0.48119	T	0.1	-10.8483	18.4016	0.90518	0.0:1.0:0.0:0.0	.	439;439	Q96J94;Q96J94-2	PIWL1_HUMAN;.	G	439	ENSP00000245255:R439G	ENSP00000245255:R439G	R	+	1	2	PIWIL1	129406076	0.996000	0.38824	0.997000	0.53966	0.995000	0.86356	2.214000	0.42853	2.577000	0.86979	0.650000	0.86243	CGA		0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			G	130840123	C	G	130840123	3	3	355	1	0	0	0	0	1	0	0	0	11957	876	31	3	1357	3	PIWIL1	12	130840123	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	10264613	130840123	3011772	51	19442											
WDR20	91833	genome.wustl.edu	37	14	102674944	102674944	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr14:102674944T>A	ENST00000342702.3	+	3	468	c.437T>A	c.(436-438)cTa>cAa	p.L146Q	WDR20_ENST00000335263.5_Missense_Mutation_p.L146Q|WDR20_ENST00000499851.2_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_5'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.L85Q|WDR20_ENST00000556511.2_Missense_Mutation_p.L85Q|WDR20_ENST00000424963.2_Missense_Mutation_p.L22Q|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000454394.2_Missense_Mutation_p.L177Q	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	146										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TCACAGAGACTAATAGACAAG	0.453																																																0			14											54	53	53					14																	102674944		2203	4300	6503	101744697	SO:0001583	missense	91833			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.437T>A	14.37:g.102674944T>A	ENSP00000341037:p.Leu146Gln		101744697	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401751	0.62288	.	.	ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000454394;ENST00000401892	T;T;T;T;T	0.63580	0.68;-0.05;0.68;1.96;0.68	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.74627	0.3741	L	0.56280	1.765	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.998;0.999;0.998;0.996	D;D;D;D;D;D;D	0.78314	0.966;0.969;0.984;0.966;0.99;0.991;0.957	T	0.74509	-0.3642	10	0.42905	T	0.14	.	15.5565	0.76200	0.0:0.0:0.0:1.0	.	177;158;85;146;85;22;146	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.;.;.;.;.;.;WDR20_HUMAN	Q	146;85;22;146;85;177;76	ENSP00000335434:L146Q;ENSP00000395793:L22Q;ENSP00000341037:L146Q;ENSP00000450636:L85Q;ENSP00000406084:L177Q	ENSP00000299135:L85Q	L	+	2	0	WDR20	101744697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.143000	0.66587	0.533000	0.62120	CTA		0.453	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		A	102674944	T	A	102674944	3	1	355	1	0	0	0	0	1	0	0	0	17280	1522	53	5	464	5	WDR20	14	102674944	Missense_Mutation	SNP	T	TCGA-29-1785-01A-01W-0633-09		102674944	4674596	52	19443											
RPLP1	6176	genome.wustl.edu	37	15	69747810	69747810	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr15:69747810G>C	ENST00000260379.6	+	4	474	c.309G>C	c.(307-309)gaG>gaC	p.E103D	U3_ENST00000384391.1_RNA|RPLP1_ENST00000357790.5_Missense_Mutation_p.E78D|RPLP1_ENST00000560274.1_Missense_Mutation_p.S39T	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	103					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			ovary(1)	1						AATCCGAGGAGTCTGATGATG	0.358																																																0			15											54	51	52					15																	69747810		2199	4298	6497	67534864	SO:0001583	missense	6176				CCDS10233.1, CCDS10234.1	15q22	2011-07-29			ENSG00000137818	ENSG00000137818		"L ribosomal proteins"	10372	protein-coding gene	gene with protein product		180520					Standard	NM_001003		Approved	LP1	uc002asd.1	P05386	OTTHUMG00000133359	ENST00000260379.6:c.309G>C	15.37:g.69747810G>C	ENSP00000346037:p.Glu103Asp		67534864	A6NIB2	Missense_Mutation	SNP	ENST00000260379.6	37	CCDS10233.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281161	0.23392	.	.	ENSG00000137818	ENST00000260379;ENST00000357790	.	.	.	5.24	-2.31	0.06765	.	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	M	0.80422	2.495	0.19575	N	0.999967	B;B	0.33000	0.004;0.393	B;B	0.37731	0.037;0.257	T	0.53222	-0.8469	9	0.52906	T	0.07	.	11.4527	0.50162	0.4896:0.0:0.5104:0.0	.	78;103	A6NIB2;P05386	.;RLA1_HUMAN	D	103;78	.	ENSP00000346037:E103D	E	+	3	2	RPLP1	67534864	0.998000	0.40836	0.985000	0.45067	0.876000	0.50452	0.423000	0.21313	-0.304000	0.08843	-1.523000	0.00931	GAG		0.358	RPLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257195.2	NM_001003		C	69747810	G	C	69747810	3	2	355	1	0	0	0	0	1	0	0	0	13608	1020	36	3	323	3	RPLP1	15	69747810	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09		69747810	32783582	53	19444											
C15orf32	145858	genome.wustl.edu	37	15	93015689	93015689	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr15:93015689C>T	ENST00000333334.2	+	1	806	c.311C>T	c.(310-312)cCa>cTa	p.P104L	C15orf32_ENST00000556865.1_Missense_Mutation_p.P104L|RP11-763K15.1_ENST00000554440.1_lincRNA	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	104										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTGTTAACACCATCTCAGCTC	0.423																																																0			15											77	83	81					15																	93015689		2198	4298	6496	90816693	SO:0001583	missense	145858				CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.311C>T	15.37:g.93015689C>T	ENSP00000330267:p.Pro104Leu		90816693	C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	C	7.437	0.639967	0.14386	.	.	ENSG00000183643	ENST00000333334	T	0.57107	0.42	2.42	-0.733	0.11144	.	.	.	.	.	T	0.30417	0.0764	N	0.14661	0.345	0.09310	N	1	P	0.35908	0.527	B	0.34873	0.191	T	0.18967	-1.0320	9	0.87932	D	0	.	4.9889	0.14203	0.4239:0.3687:0.2074:0.0	.	104	Q32M92	CO032_HUMAN	L	104	ENSP00000330267:P104L	ENSP00000330267:P104L	P	+	2	0	C15orf32	90816693	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.886000	0.04157	-0.166000	0.10890	-0.842000	0.03052	CCA		0.423	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040		T	93015689	C	T	93015689	3	4	355	1	0	0	0	0	1	0	0	0	1790	594	21	2	313	2	C15orf32	15	93015689	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	23267879	93015689	9515703	54	19445											
PPL	5493	genome.wustl.edu	37	16	4935029	4935029	+	Silent	SNP	G	G	C			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr16:4935029G>C	ENST00000345988.2	-	22	3716	c.3627C>G	c.(3625-3627)ctC>ctG	p.L1209L	PPL_ENST00000590782.2_Silent_p.L1207L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1209					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGTAGCTCCGGAGCTGCTCCT	0.607																																																0			16											54	51	52					16																	4935029		2197	4300	6497	4875030	SO:0001819	synonymous_variant	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3627C>G	16.37:g.4935029G>C			4875030	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.607	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		C	4935029	G	C	4935029	2	2	355	1	0	0	0	0	0	0	0	1	12337	1161	41	3		3	PPL	16	4935029	Silent	SNP	G	TCGA-29-1785-01A-01W-0633-09		4935029	85419724	55	19446											
MYH11	4629	genome.wustl.edu	37	16	15808869	15808869	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr16:15808869G>A	ENST00000300036.5	-	40	5792	c.5683C>T	c.(5683-5685)Cgc>Tgc	p.R1895C	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.R1902C|MYH11_ENST00000576790.2_Missense_Mutation_p.R1895C|MYH11_ENST00000452625.2_Missense_Mutation_p.R1902C|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1895					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGTTGATGCGCTGGGACTCC	0.632			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0			16											131	123	126					16																	15808869		2197	4300	6497	15716370	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5683C>T	16.37:g.15808869G>A	ENSP00000300036:p.Arg1895Cys		15716370	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513017	0.85389	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.76	4.76	0.60689	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.88930	0.6571	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.89781	0.3961	10	0.46703	T	0.11	.	16.7535	0.85493	0.0:0.0:1.0:0.0	.	1902;1895;1902;1895;1902	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	C	1895;1895;1902;1902;1902	ENSP00000300036:R1895C;ENSP00000345136:R1895C;ENSP00000379616:R1902C;ENSP00000407821:R1902C	ENSP00000300036:R1895C	R	-	1	0	MYH11	15716370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.177000	0.69029	0.455000	0.32223	CGC		0.632	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15808869	G	A	15808869	3	1	355	1	0	0	0	0	1	0	0	0	10031	1087	38	1	278	1	MYH11	16	15808869	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	10873840	15808869	74545884	56	19447											
DNAH3	55567	genome.wustl.edu	37	16	20974609	20974609	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr16:20974609C>T	ENST00000261383.3	-	53	10596	c.10597G>A	c.(10597-10599)Gca>Aca	p.A3533T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3533	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTTACCTGCCATTGGGTCT	0.502																																																0			16											83	78	80					16																	20974609		2201	4300	6501	20882110	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10597G>A	16.37:g.20974609C>T	ENSP00000261383:p.Ala3533Thr		20882110	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322190	0.95708	.	.	ENSG00000158486	ENST00000261383	T	0.08634	3.07	5.09	5.09	0.68999	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	M	0.68728	2.09	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00800	-1.1561	10	0.45353	T	0.12	.	18.4954	0.90863	0.0:1.0:0.0:0.0	.	3533	Q8TD57	DYH3_HUMAN	T	3533	ENSP00000261383:A3533T	ENSP00000261383:A3533T	A	-	1	0	DNAH3	20882110	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.091000	0.71406	2.379000	0.81126	0.561000	0.74099	GCA		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20974609	C	T	20974609	3	4	355	1	0	0	0	0	1	0	0	0	4603	739	26	2	1792	2	DNAH3	16	20974609	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	5165740	20974609	69380144	57	19448											
KIAA0556	23247	genome.wustl.edu	37	16	27642394	27642394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr16:27642394C>T	ENST00000261588.4	+	5	338	c.319C>T	c.(319-321)Cga>Tga	p.R107*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	107						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGATTATGGACGAAGAACTCT	0.512																																																0			16											45	34	38					16																	27642394		2194	4297	6491	27549895	SO:0001587	stop_gained	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.319C>T	16.37:g.27642394C>T	ENSP00000261588:p.Arg107*		27549895	A7E2C2	Nonsense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405095	0.42613	.	.	ENSG00000047578	ENST00000261588	.	.	.	4.85	3.83	0.44106	.	0.704330	0.12385	N	0.473529	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9413	8.7452	0.34583	0.2878:0.7121:0.0:0.0	.	.	.	.	X	107	.	ENSP00000261588:R107X	R	+	1	2	KIAA0556	27549895	0.862000	0.29867	0.370000	0.25965	0.083000	0.17756	1.519000	0.35888	2.218000	0.71995	0.555000	0.69702	CGA		0.512	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27642394	C	T	27642394	4	4	355	1	0	0	0	0	0	1	0	0	8183	528	19	1	337	1	KIAA0556	16	27642394	Nonsense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	6667785	27642394	62712359	58	19449											
PLA2G15	23659	genome.wustl.edu	37	16	68279354	68279354	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr16:68279354C>G	ENST00000219345.5	+	1	108	c.25C>G	c.(25-27)Cgt>Ggt	p.R9G	PLA2G15_ENST00000444212.2_Missense_Mutation_p.R9G|PLA2G15_ENST00000413021.2_Missense_Mutation_p.R9G|PLA2G15_ENST00000566188.1_Missense_Mutation_p.R9G	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	9					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCGCCCCTACCGTGTGGGGCT	0.701																																																0			16											44	38	40					16																	68279354		2197	4300	6497	66836855	SO:0001583	missense	23659			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.25C>G	16.37:g.68279354C>G	ENSP00000219345:p.Arg9Gly		66836855	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	C	9.987	1.229821	0.22542	.	.	ENSG00000103066	ENST00000413021;ENST00000219345;ENST00000444212	D;D;D	0.99252	-5.06;-4.02;-5.63	4.24	1.16	0.20824	.	1.105560	0.06664	N	0.765037	D	0.97754	0.9263	L	0.61218	1.895	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	D	0.93563	0.6897	10	0.38643	T	0.18	-6.1121	4.3556	0.11176	0.0:0.6053:0.1879:0.2069	.	9;9;9;9	B4DPU0;B4DUD1;B4DJW4;Q8NCC3	.;.;.;PAG15_HUMAN	G	9	ENSP00000394197:R9G;ENSP00000219345:R9G;ENSP00000393610:R9G	ENSP00000219345:R9G	R	+	1	0	PLA2G15	66836855	0.003000	0.15002	0.002000	0.10522	0.006000	0.05464	0.693000	0.25497	0.312000	0.23038	0.511000	0.50034	CGT		0.701	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		G	68279354	C	G	68279354	3	3	355	1	0	0	0	0	1	0	0	0	11992	652	23	3	27	3	PLA2G15	16	68279354	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	40636960	68279354	22075399	59	19450											
TP53	7157	genome.wustl.edu	37	17	7576928	7576928	+	Splice_Site	SNP	T	T	C	rs397516439		TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr17:7576928T>C	ENST00000269305.4	-	9	1109		c.e9-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site	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						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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TGGGCAGTGCTAGGAAAGAGG	0.493		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"	38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(11)|upper_aerodigestive_tract(6)|breast(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(2)|large_intestine(1)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(1)|ovary(1)	17											137	124	129					17																	7576928		2203	4300	6503	7517653	SO:0001630	splice_region_variant	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.920-2A>G	17.37:g.7576928T>C			7517653	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.085	0.773141	0.16051	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.71	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.665	0.28426	0.187:0.0:0.0:0.813	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517653	0.089000	0.21612	0.933000	0.37362	0.236000	0.25371	0.838000	0.27572	1.993000	0.58246	0.459000	0.35465	.		0.493	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	C	7576928	T	C	7576928	5	2	355	1	0	0	0	0	0	0	1	0	16381	1536	53	4	364	4	TP53	17	7576928	Splice_Site	SNP	T	TCGA-29-1785-01A-01W-0633-09		7576928	73618282	60	19451											
KRT10	3858	genome.wustl.edu	37	17	38976385	38976385	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr17:38976385C>G	ENST00000269576.5	-	5	1080	c.1071G>C	c.(1069-1071)caG>caC	p.Q357H	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	357	Coil 2.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AGCTGGATATCTGTTCAATGT	0.363																																																0			17											96	94	95					17																	38976385		2203	4300	6503	36229911	SO:0001583	missense	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1071G>C	17.37:g.38976385C>G	ENSP00000269576:p.Gln357His		36229911	Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339030	0.60963	.	.	ENSG00000186395	ENST00000269576	T	0.78924	-1.22	5.6	3.41	0.39046	Filament (1);	0.000000	0.34932	N	0.003569	D	0.87261	0.6133	M	0.88031	2.925	0.80722	D	1	D	0.54601	0.967	D	0.72075	0.976	D	0.86546	0.1831	10	0.87932	D	0	.	6.6157	0.22776	0.0:0.2956:0.0:0.7044	.	357	P13645	K1C10_HUMAN	H	357	ENSP00000269576:Q357H	ENSP00000269576:Q357H	Q	-	3	2	KRT10	36229911	0.002000	0.14202	1.000000	0.80357	0.958000	0.62258	0.117000	0.15583	0.977000	0.38444	-0.302000	0.09304	CAG		0.363	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		G	38976385	C	G	38976385	3	3	355	1	0	0	0	0	1	0	0	0	8448	912	32	3	699	3	KRT10	17	38976385	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	31399457	38976385	42218825	61	19452											
SIRT7	51547	genome.wustl.edu	37	17	79872212	79872212	+	Silent	SNP	G	G	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr17:79872212G>T	ENST00000328666.6	-	7	836	c.774C>A	c.(772-774)gcC>gcA	p.A258A	PCYT2_ENST00000570388.1_5'Flank|PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000538721.2_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	258	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTGCTCTGCTGGCAGCCTCGG	0.632																																																0			17											56	48	50					17																	79872212		2203	4300	6503	77465504	SO:0001819	synonymous_variant	51547			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.774C>A	17.37:g.79872212G>T			77465504	A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Silent	SNP	ENST00000328666.6	37	CCDS11792.1																																																																																				0.632	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		T	79872212	G	T	79872212	2	4	355	1	0	0	0	0	0	0	0	1	14346	1335	47	3		3	SIRT7	17	79872212	Silent	SNP	G	TCGA-29-1785-01A-01W-0633-09	40895827	79872212	1322998	62	19453											
MAPRE2	10982	genome.wustl.edu	37	18	32677556	32677556	+	Splice_Site	SNP	G	G	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr18:32677556G>T	ENST00000300249.5	+	3	576		c.e3+1		MAPRE2_ENST00000538170.2_Splice_Site|MAPRE2_ENST00000413393.1_Splice_Site|MAPRE2_ENST00000589699.1_Splice_Site|MAPRE2_ENST00000436190.2_Splice_Site|MAPRE2_ENST00000588910.1_Splice_Site	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2						cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CGTTGATAAGGTAGGAGACTT	0.318																																																0			18											57	57	57					18																	32677556		2203	4300	6503	30931554	SO:0001630	splice_region_variant	10982			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"APC-binding protein EB1"	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.396+1G>T	18.37:g.32677556G>T			30931554	B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Splice_Site	SNP	ENST00000300249.5	37	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325886	0.81580	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	.	.	.	5.64	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9824	0.80121	0.0:0.0:0.8641:0.1359	.	.	.	.	.	-1	.	.	.	+	.	.	MAPRE2	30931554	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	8.022000	0.88759	1.366000	0.46076	0.585000	0.79938	.		0.318	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268	Intron	T	32677556	G	T	32677556	5	4	355	1	0	0	0	0	0	0	1	0	9295	1275	44	3	501	3	MAPRE2	18	32677556	Splice_Site	SNP	G	TCGA-29-1785-01A-01W-0633-09		32677556	45399692	63	19454											
KIAA1632	57724	genome.wustl.edu	37	18	43534628	43534628	+	Missense_Mutation	SNP	G	G	A	rs140494095	byFrequency	TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr18:43534628G>A	ENST00000282041.5	-	2	774	c.740C>T	c.(739-741)cCg>cTg	p.P247L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	247					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAGTTGAGACGGGAGTTCTGG	0.453													G|||	42	0.00838658	0	0.0288	5008	,	,		18471	0.0159		0	False		,,,				2504	0.0061															0			18						G	LEU/PRO	3,4251		0,3,2124	80	81	81		740	5.6	1	18	dbSNP_134	81	0,8530		0,0,4265	yes	missense	EPG5	NM_020964.2	98	0,3,6389	AA,AG,GG		0.0,0.0705,0.0235	probably-damaging	247/2580	43534628	3,12781	2127	4265	6392	41788626	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.740C>T	18.37:g.43534628G>A	ENSP00000282041:p.Pro247Leu		41788626	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	16	0.007326007326007326	0	0.0	8	0.022099447513812154	8	0.013986013986013986	0	0.0	G	16.45	3.126044	0.56721	7.05E-4	0.0	ENSG00000152223	ENST00000282041	T	0.11930	2.73	5.61	5.61	0.85477	.	0.054958	0.85682	D	0.000000	T	0.20414	0.0491	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.66497	0.944;0.766	T	0.00546	-1.1678	10	0.72032	D	0.01	-10.225	19.6471	0.95779	0.0:0.0:1.0:0.0	.	247;247	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	247	ENSP00000282041:P247L	ENSP00000282041:P247L	P	-	2	0	EPG5	41788626	1.000000	0.71417	0.989000	0.46669	0.004000	0.04260	5.781000	0.68964	2.629000	0.89072	0.655000	0.94253	CCG		0.453	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		A	43534628	G	A	43534628	3	1	355	1	0	0	0	0	1	0	0	0	8249	1116	39	1	7171	1	KIAA1632	18	43534628	Missense_Mutation	SNP	G	TCGA-29-1785-01A-01W-0633-09	10857072	43534628	34542620	64	19455											
SERPINB2	5055	genome.wustl.edu	37	18	61564441	61564441	+	Silent	SNP	G	G	C	rs140108044	byFrequency	TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr18:61564441G>C	ENST00000299502.4	+	4	485	c.405G>C	c.(403-405)gcG>gcC	p.A135A	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Silent_p.A135A	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	135					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	AGAAGTCTGCGAGCTTCCGGG	0.413																																																0			18											107	108	108					18																	61564441		2203	4300	6503	59715421	SO:0001819	synonymous_variant	5055			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.405G>C	18.37:g.61564441G>C			59715421	Q96E96	Silent	SNP	ENST00000299502.4	37	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	9.062	0.994713	0.19043	.	.	ENSG00000242550	ENST00000397996;ENST00000418725	.	.	.	5.93	-10.4	0.00318	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.16541	-1.0399	4	.	.	.	.	6.6103	0.22747	0.1647:0.2401:0.5096:0.0857	.	.	.	.	Q	12	.	.	E	+	1	0	SERPINB10	59715421	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-4.049000	0.00305	-1.747000	0.01333	-0.290000	0.09829	GAG		0.413	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		C	61564441	G	C	61564441	2	2	355	1	0	0	0	0	0	0	0	1	14104	1045	37	3		3	SERPINB2	18	61564441	Silent	SNP	G	TCGA-29-1785-01A-01W-0633-09	18029813	61564441	16512807	65	19456											
ZNF516	9658	genome.wustl.edu	37	18	74154469	74154469	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr18:74154469C>T	ENST00000443185.2	-	3	859	c.542G>A	c.(541-543)aGc>aAc	p.S181N	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTCGAACTGGCTCTTGCAGAA	0.667																																																0			18											20	23	22					18																	74154469		2120	4215	6335	72283457	SO:0001583	missense	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.542G>A	18.37:g.74154469C>T	ENSP00000394757:p.Ser181Asn		72283457		Missense_Mutation	SNP	ENST00000443185.2	37		.	.	.	.	.	.	.	.	.	.	C	13.42	2.231688	0.39399	.	.	ENSG00000101493	ENST00000443185	T	0.01613	4.73	4.53	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.181464	0.47852	D	0.000206	T	0.01489	0.0048	.	.	.	0.27662	N	0.947055	B	0.21071	0.051	B	0.19946	0.027	T	0.43686	-0.9376	9	0.31617	T	0.26	-22.9273	8.4327	0.32769	0.0:0.6117:0.2698:0.1185	.	181	Q92618	ZN516_HUMAN	N	181	ENSP00000394757:S181N	ENSP00000394757:S181N	S	-	2	0	ZNF516	72283457	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	1.745000	0.38278	1.231000	0.43661	0.655000	0.94253	AGC		0.667	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		T	74154469	C	T	74154469	3	4	355	1	0	0	0	0	1	0	0	0	17960	797	28	2	2970	2	ZNF516	18	74154469	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09	12590028	74154469	3922779	66	19457											
NPHS1	4868	genome.wustl.edu	37	19	36321761	36321761	+	Silent	SNP	G	G	A			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr19:36321761G>A	ENST00000378910.5	-	28	3578	c.3579C>T	c.(3577-3579)taC>taT	p.Y1193Y	NPHS1_ENST00000353632.6_Silent_p.Y1153Y	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1193	Binds to NPHS2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCACTTCATCGTAGAGGGGTC	0.527																																																0			19											102	103	103					19																	36321761		2203	4300	6503	41013601	SO:0001819	synonymous_variant	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3579C>T	19.37:g.36321761G>A			41013601	A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	CCDS32996.1																																																																																				0.527	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			A	36321761	G	A	36321761	2	1	355	1	0	0	0	0	0	0	0	1	10582	1140	40	1		1	NPHS1	19	36321761	Silent	SNP	G	TCGA-29-1785-01A-01W-0633-09		36321761	22807222	67	19458											
RUVBL2	10856	genome.wustl.edu	37	19	49517781	49517781	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr19:49517781A>G	ENST00000595090.1	+	12	1506	c.1042A>G	c.(1042-1044)Ata>Gta	p.I348V	RUVBL2_ENST00000413176.2_Missense_Mutation_p.I303V|RUVBL2_ENST00000601968.1_Missense_Mutation_p.I303V	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	348					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGCATCCCCATAGACCTGCT	0.617																																																0			19											57	64	61					19																	49517781		1996	4167	6163	54209593	SO:0001583	missense	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.1042A>G	19.37:g.49517781A>G	ENSP00000473172:p.Ile348Val		54209593	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979475	0.34942	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.40476	1.03	5.19	4.15	0.48705	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.049234	0.85682	D	0.000000	T	0.28566	0.0707	L	0.31845	0.965	0.58432	D	0.999997	B;B	0.10296	0.003;0.001	B;B	0.16289	0.015;0.006	T	0.05937	-1.0855	10	0.12766	T	0.61	-26.5183	9.7694	0.40580	0.8454:0.0:0.0:0.1546	.	348;314	Q9Y230;B3KNL2	RUVB2_HUMAN;.	V	348;303	ENSP00000413890:I303V	ENSP00000221413:I348V	I	+	1	0	RUVBL2	54209593	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	3.495000	0.53280	0.885000	0.36088	0.459000	0.35465	ATA		0.617	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			G	49517781	A	G	49517781	3	3	355	1	0	0	0	0	1	0	0	0	13756	217	8	4	1088	4	RUVBL2	19	49517781	Missense_Mutation	SNP	A	TCGA-29-1785-01A-01W-0633-09	13196020	49517781	9611202	68	19459											
MED25	81857	genome.wustl.edu	37	19	50331742	50331742	+	Silent	SNP	C	C	T	rs367931150		TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr19:50331742C>T	ENST00000312865.6	+	4	395	c.342C>T	c.(340-342)atC>atT	p.I114I	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	114	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCAGCCTCATCGCGGAAGGAC	0.627																																					GBM(51;894 1657 37868)											0			19						C		1,4405	2.1+/-5.4	0,1,2202	96	97	97		342	0.2	1	19		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MED25	NM_030973.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		114/748	50331742	2,13004	2203	4300	6503	55023554	SO:0001819	synonymous_variant	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.342C>T	19.37:g.50331742C>T			55023554	A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	ENST00000312865.6	37	CCDS33075.1																																																																																				0.627	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		T	50331742	C	T	50331742	2	4	355	1	0	0	0	0	0	0	0	1	9443	874	31	1		1	MED25	19	50331742	Silent	SNP	C	TCGA-29-1785-01A-01W-0633-09	813961	50331742	8797241	69	19460											
ZNF335	63925	genome.wustl.edu	37	20	44579114	44579114	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chr20:44579114C>G	ENST00000322927.2	-	21	3410	c.3310G>C	c.(3310-3312)Gca>Cca	p.A1104P	ZNF335_ENST00000426788.1_Missense_Mutation_p.A949P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1104					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGGTGGCATGCAAAAGGCTTC	0.587																																																0			20											134	131	132					20																	44579114		2203	4300	6503	44012521	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3310G>C	20.37:g.44579114C>G	ENSP00000325326:p.Ala1104Pro		44012521	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433878	0.25813	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.16457	2.34;2.34	4.82	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.743986	0.13003	N	0.421535	T	0.18002	0.0432	L	0.41079	1.255	0.09310	N	1	P;P	0.38335	0.573;0.627	B;B	0.42112	0.259;0.376	T	0.15492	-1.0435	10	0.33141	T	0.24	-5.0528	13.4051	0.60908	0.6336:0.3663:0.0:0.0	.	949;1104	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	P	1104;881;949	ENSP00000325326:A1104P;ENSP00000397098:A949P	ENSP00000243961:A881P	A	-	1	0	ZNF335	44012521	0.004000	0.15560	0.256000	0.24389	0.858000	0.48976	0.138000	0.16016	0.610000	0.30035	0.563000	0.77884	GCA		0.587	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		G	44579114	C	G	44579114	3	3	355	1	0	0	0	0	1	0	0	0	17852	710	25	3	750	3	ZNF335	20	44579114	Missense_Mutation	SNP	C	TCGA-29-1785-01A-01W-0633-09		44579114	18446406	70	19461											
CSF2RA	1438	genome.wustl.edu	37	X	1404673	1404673	+	Silent	SNP	C	C	T			TCGA-29-1785-01A-01W-0633-09	TCGA-29-1785-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d4ad0ff7-92fa-4c79-9e83-4408f8da83da	a7dc1312-038d-49bb-b3e4-d52e0d09e4d8	g.chrX:1404673C>T	ENST00000381524.3	+	4	265	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	CSF2RA_ENST00000417535.2_Silent_p.L27L|CSF2RA_ENST00000361536.3_Silent_p.L27L|CSF2RA_ENST00000381529.3_Silent_p.L27L|CSF2RA_ENST00000381509.3_Silent_p.L27L|CSF2RA_ENST00000355805.2_Silent_p.L27L|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000355432.3_Silent_p.L27L|CSF2RA_ENST00000494969.2_Silent_p.L27L|CSF2RA_ENST00000381500.1_Silent_p.L27L|CSF2RA_ENST00000432318.2_Silent_p.L27L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	27					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCTTGCAGATCTGCGAACAGT	0.423																																					Esophageal Squamous(131;723 1707 25334 40494 41806)											0			X											132	134	134					X																	1404673		2203	4296	6499	1364673	SO:0001819	synonymous_variant	1438			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.79C>T	X.37:g.1404673C>T			1364673	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	CCDS35191.1																																																																																				0.423	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			T	1404673	C	T	1404673	2	4	355	1	0	0	0	0	0	0	0	1	3934	912	32	2		2	CSF2RA	23	1404673	Silent	SNP	C	TCGA-29-1785-01A-01W-0633-09		1404673	153865887	71	19462											
KIAA0467	23334	broad.mit.edu	37	1	43898739	43898739	+	Silent	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr1:43898739G>A	ENST00000562955.1	+	39	5511	c.5511G>A	c.(5509-5511)cgG>cgA	p.R1837R	SZT2_ENST00000372442.1_Silent_p.R995R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1894					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.R995R(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCACATTGCGGACTCCACCTG	0.607																																																2	Substitution - coding silent(2)	ovary(2)	1											146	127	133					1																	43898739		2203	4300	6503	43671326	SO:0001819	synonymous_variant	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5511G>A	1.37:g.43898739G>A			43671326	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																				0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		A	43898739	G	A	43898739	2	1	356	1	0	0	0	0	0	0	0	1	8178	1161	41	2		2	KIAA0467	1	43898739	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08		43898739	205351882	1	19463											
TMEM53	79639	broad.mit.edu	37	1	45120309	45120309	+	Silent	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr1:45120309G>A	ENST00000372237.3	-	3	919	c.756C>T	c.(754-756)caC>caT	p.H252H	TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Silent_p.H222H|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	252						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.H252H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GGTGGCTGACGTGTGCAGATG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	1											98	107	104					1																	45120309		2203	4300	6503	44892896	SO:0001819	synonymous_variant	79639				CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.756C>T	1.37:g.45120309G>A			44892896	B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Silent	SNP	ENST00000372237.3	37	CCDS511.1																																																																																				0.587	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		A	45120309	G	A	45120309	2	1	356	1	0	0	0	0	0	0	0	1	16179	1136	40	1		1	TMEM53	1	45120309	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08	1221570	45120309	204130312	2	19464											
FAM73A	374986	broad.mit.edu	37	1	78248936	78248936	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr1:78248936C>A	ENST00000370791.3	+	2	127	c.95C>A	c.(94-96)gCc>gAc	p.A32D	FAM73A_ENST00000443751.2_Intron	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	32						integral component of membrane (GO:0016021)		p.A32D(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGAAGAGGAGCCATGTCAGAA	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											115	111	113					1																	78248936		2203	4300	6503	78021524	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.95C>A	1.37:g.78248936C>A	ENSP00000359827:p.Ala32Asp		78021524	Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249675	0.39797	.	.	ENSG00000180488	ENST00000370791	T	0.24538	1.85	5.33	-0.145	0.13436	.	0.586624	0.16282	N	0.221302	T	0.04048	0.0113	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31833	-0.9929	10	0.29301	T	0.29	-0.5452	1.2546	0.01989	0.1404:0.3244:0.2077:0.3276	.	32;32	B7ZLZ8;Q8NAN2	.;FA73A_HUMAN	D	32	ENSP00000359827:A32D	ENSP00000359827:A32D	A	+	2	0	FAM73A	78021524	1.000000	0.71417	0.942000	0.38095	0.945000	0.59286	0.300000	0.19156	0.081000	0.16988	-0.291000	0.09656	GCC		0.353	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		A	78248936	C	A	78248936	3	1	356	1	0	0	0	0	1	0	0	0	5617	739	26	3	101	3	FAM73A	1	78248936	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	33128627	78248936	171001685	3	19465											
KIF14	9928	broad.mit.edu	37	1	200522809	200522809	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr1:200522809G>A	ENST00000367350.4	-	30	5092	c.4654C>T	c.(4654-4656)Cct>Tct	p.P1552S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1552	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.P1552S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GAAGTAGAAGGCACACTGAAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											98	94	95					1																	200522809		2203	4300	6503	198789432	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4654C>T	1.37:g.200522809G>A	ENSP00000356319:p.Pro1552Ser		198789432	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	9.839	1.190582	0.21954	.	.	ENSG00000118193	ENST00000367350	T	0.71222	-0.55	5.74	-1.45	0.08828	.	1.520550	0.03930	N	0.285133	T	0.47358	0.1441	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.23619	-1.0183	10	0.19147	T	0.46	.	6.1866	0.20500	0.3908:0.1352:0.474:0.0	.	1552	Q15058	KIF14_HUMAN	S	1552	ENSP00000356319:P1552S	ENSP00000356319:P1552S	P	-	1	0	KIF14	198789432	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.114000	0.10757	-0.308000	0.08792	-0.136000	0.14681	CCT		0.403	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		A	200522809	G	A	200522809	3	1	356	1	0	0	0	0	1	0	0	0	8276	1203	42	2	296	2	KIF14	1	200522809	Missense_Mutation	SNP	G	TCGA-29-2427-01A-01W-0799-08	122273873	200522809	48727812	4	19466											
AHCTF1	25909	broad.mit.edu	37	1	247079566	247079566	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr1:247079566C>T	ENST00000391829.2	-	3	376	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E120K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E94K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	85	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E85K(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAAGAGAATTCTTTCACAGCT	0.388																																					Colon(145;197 1800 4745 15099 26333)											1	Substitution - Missense(1)	ovary(1)	1											26	27	27					1																	247079566		2184	4271	6455	245146189	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.253G>A	1.37:g.247079566C>T	ENSP00000375705:p.Glu85Lys		245146189	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	C	35	5.526911	0.96431	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.38077	1.16;1.16;1.16	5.8	5.8	0.92144	.	0.048777	0.85682	D	0.000000	T	0.58764	0.2145	L	0.56769	1.78	0.54753	D	0.999987	D;D	0.69078	0.997;0.997	D;P	0.68353	0.957;0.908	T	0.57665	-0.7772	10	0.66056	D	0.02	-23.9589	20.0545	0.97645	0.0:1.0:0.0:0.0	.	120;85	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	K	120;94;85	ENSP00000355464:E120K;ENSP00000355465:E94K;ENSP00000375705:E85K	ENSP00000355465:E94K	E	-	1	0	AHCTF1	245146189	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.128000	0.77217	2.748000	0.94277	0.655000	0.94253	GAA		0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		T	247079566	C	T	247079566	3	4	356	1	0	0	0	0	1	0	0	0	408	922	32	2	6683	2	AHCTF1	1	247079566	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	46556757	247079566	2171055	5	19467											
RAB10	10890	broad.mit.edu	37	2	26350058	26350058	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr2:26350058G>A	ENST00000264710.4	+	4	872	c.373G>A	c.(373-375)Gat>Aat	p.D125N	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	125					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.D125N(1)		lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACAAGTGTGATATGGACGA	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											143	146	145					2																	26350058		2203	4297	6500	26203562	SO:0001583	missense	10890			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.373G>A	2.37:g.26350058G>A	ENSP00000264710:p.Asp125Asn		26203562	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421816	0.96111	.	.	ENSG00000084733	ENST00000264710	D	0.95980	-3.87	5.74	5.74	0.90152	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	H	0.98426	4.23	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.99327	1.0908	10	0.87932	D	0	.	17.0461	0.86504	0.0:0.0:1.0:0.0	.	125	P61026	RAB10_HUMAN	N	125	ENSP00000264710:D125N	ENSP00000264710:D125N	D	+	1	0	RAB10	26203562	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.972000	0.93424	2.881000	0.98747	0.644000	0.83932	GAT		0.333	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		A	26350058	G	A	26350058	3	1	356	1	0	0	0	0	1	0	0	0	12893	1290	45	2	387	2	RAB10	2	26350058	Missense_Mutation	SNP	G	TCGA-29-2427-01A-01W-0799-08		26350058	216849315	6	19468											
BUB1	699	broad.mit.edu	37	2	111415138	111415138	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr2:111415138T>C	ENST00000302759.6	-	14	1719	c.1601A>G	c.(1600-1602)aAc>aGc	p.N534S	BUB1_ENST00000409311.1_Missense_Mutation_p.N534S|BUB1_ENST00000535254.1_Missense_Mutation_p.N514S	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	534			N -> D (in dbSNP:rs36109304). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N534S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATTTTCTTTGTTTCCATCTTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											71	68	69					2																	111415138		2203	4300	6503	111131611	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1601A>G	2.37:g.111415138T>C	ENSP00000302530:p.Asn534Ser		111131611	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.709164	0.30322	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.35789	2.05;1.29;2.3	5.89	4.73	0.59995	.	0.306470	0.38897	N	0.001522	T	0.24084	0.0583	L	0.43152	1.355	0.34700	D	0.726634	B;B;B	0.32350	0.131;0.366;0.1	B;B;B	0.24006	0.05;0.032;0.023	T	0.21143	-1.0254	10	0.09590	T	0.72	-23.2649	10.4309	0.44407	0.0:0.0786:0.0:0.9214	.	514;534;534	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	S	514;534;534;534	ENSP00000441013:N514S;ENSP00000386701:N534S;ENSP00000302530:N534S	ENSP00000302530:N534S	N	-	2	0	BUB1	111131611	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.862000	0.39448	2.245000	0.73994	0.455000	0.32223	AAC		0.408	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		C	111415138	T	C	111415138	3	2	356	1	0	0	0	0	1	0	0	0	1570	1725	60	4	1704	4	BUB1	2	111415138	Missense_Mutation	SNP	T	TCGA-29-2427-01A-01W-0799-08	85065080	111415138	131784235	7	19469											
CLASP1	23332	broad.mit.edu	37	2	122218678	122218678	+	Splice_Site	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr2:122218678G>A	ENST00000263710.4	-	11	1420	c.1031C>T	c.(1030-1032)gCt>gTt	p.A344V	CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000545861.1_Splice_Site_p.A112V|CLASP1_ENST00000541377.1_Splice_Site_p.A344V|CLASP1_ENST00000409078.3_Splice_Site_p.A344V|CLASP1_ENST00000455322.2_Splice_Site_p.A344V|CLASP1_ENST00000541859.1_Splice_Site_p.A113V|CLASP1_ENST00000397587.3_Splice_Site_p.A344V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	344					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.A344V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACAGCTTACAGCATTTACTCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											67	62	64					2																	122218678		1824	4087	5911	121935148	SO:0001630	splice_region_variant	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1032+1C>T	2.37:g.122218678G>A			121935148	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	G	23.7	4.452271	0.84209	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989	T;T;T;T;T;T;T;T	0.73575	-0.76;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;0.62	5.22	5.22	0.72569	Armadillo-type fold (1);CLASP N-terminal domain (1);	0.105513	0.64402	D	0.000004	T	0.81842	0.4908	M	0.84326	2.69	0.58432	D	0.999997	P;P;P;P	0.50066	0.669;0.775;0.846;0.931	B;B;P;P	0.51550	0.433;0.356;0.57;0.673	D	0.84739	0.0750	10	0.87932	D	0	.	12.7609	0.57363	0.079:0.0:0.921:0.0	.	344;344;344;344	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	V	344;344;344;344;113;344;112;113	ENSP00000263710:A344V;ENSP00000389372:A344V;ENSP00000380717:A344V;ENSP00000441625:A344V;ENSP00000441770:A113V;ENSP00000386442:A344V;ENSP00000438620:A112V;ENSP00000392886:A113V	ENSP00000263710:A344V	A	-	2	0	CLASP1	121935148	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.781000	0.99029	2.609000	0.88269	0.585000	0.79938	GCT		0.328	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Missense_Mutation	A	122218678	G	A	122218678	5	1	356	1	0	0	0	0	0	0	1	0	3454	985	34	2	3757	2	CLASP1	2	122218678	Splice_Site	SNP	G	TCGA-29-2427-01A-01W-0799-08	10803540	122218678	120980695	8	19470											
FIGN	55137	broad.mit.edu	37	2	164467021	164467021	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr2:164467021G>T	ENST00000333129.3	-	3	1635	c.1321C>A	c.(1321-1323)Cca>Aca	p.P441T	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	441					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.P441T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTTGCATTGGGTGAGAGAGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											115	117	116					2																	164467021		2149	4251	6400	164175267	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1321C>A	2.37:g.164467021G>T	ENSP00000333836:p.Pro441Thr		164175267	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	3.664	-0.068943	0.07228	.	.	ENSG00000182263	ENST00000333129	D	0.92099	-2.97	6.04	2.1	0.27182	.	0.357334	0.33005	N	0.005399	T	0.81809	0.4901	N	0.08118	0	0.43852	D	0.99644	B	0.02656	0.0	B	0.01281	0.0	T	0.70288	-0.4913	10	0.39692	T	0.17	-1.6922	11.6091	0.51049	0.0:0.1138:0.4156:0.4706	.	441	Q5HY92	FIGN_HUMAN	T	441	ENSP00000333836:P441T	ENSP00000333836:P441T	P	-	1	0	FIGN	164175267	1.000000	0.71417	0.965000	0.40720	0.994000	0.84299	1.514000	0.35834	0.100000	0.17581	-0.261000	0.10672	CCA		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		T	164467021	G	T	164467021	3	4	356	1	0	0	0	0	1	0	0	0	5891	1232	43	3	962	3	FIGN	2	164467021	Missense_Mutation	SNP	G	TCGA-29-2427-01A-01W-0799-08	42248343	164467021	78732352	9	19471											
TTN	7273	broad.mit.edu	37	2	179404667	179404667	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr2:179404667T>A	ENST00000591111.1	-	302	93426	c.93202A>T	c.(93202-93204)Aga>Tga	p.R31068*	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R23836*|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R23769*|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R23644*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R32709*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R30141*			Q8WZ42	TITIN_HUMAN	titin	31068	Ig-like 139.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R23644*(1)|p.R30139*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGGTATCTTTCATCAAGT	0.383																																																2	Substitution - Nonsense(2)	ovary(2)	2											100	92	94					2																	179404667		1889	4119	6008	179112913	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93202A>T	2.37:g.179404667T>A	ENSP00000465570:p.Arg31068*		179112913	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	69	108.502262	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7187	0.62714	0.0:0.0:0.1285:0.8715	.	.	.	.	X	30141;23644;23836;23769;23641	.	ENSP00000340554:R23836X	R	-	1	2	TTN	179112913	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.203000	0.42752	1.132000	0.42129	-0.316000	0.08728	AGA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179404667	T	A	179404667	4	1	356	1	0	0	0	0	0	1	0	0	16735	1617	56	5	9898	5	TTN	2	179404667	Nonsense_Mutation	SNP	T	TCGA-29-2427-01A-01W-0799-08	14937646	179404667	63794706	10	19472											
TTN	7273	broad.mit.edu	37	2	179648841	179648841	+	Missense_Mutation	SNP	C	C	T	rs141961878		TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr2:179648841C>T	ENST00000591111.1	-	16	2955	c.2731G>A	c.(2731-2733)Gtc>Atc	p.V911I	TTN_ENST00000342175.6_Missense_Mutation_p.V865I|TTN_ENST00000359218.5_Missense_Mutation_p.V865I|TTN_ENST00000460472.2_Missense_Mutation_p.V865I|TTN_ENST00000360870.5_Missense_Mutation_p.V911I|TTN_ENST00000589042.1_Missense_Mutation_p.V911I|TTN_ENST00000342992.6_Missense_Mutation_p.V911I			Q8WZ42	TITIN_HUMAN	titin	33948					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V911I(2)|p.V865I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCACGGACGGTGGTGCCA	0.552																																																3	Substitution - Missense(3)	ovary(3)	2						C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	150	120	131		2593,2593,2731,2731,2593	2.7	0.2	2	dbSNP_134	131	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	865/27119,865/27052,911/5605,911/33424,865/26927	179648841	1,13005	2203	4300	6503	179357086	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2731G>A	2.37:g.179648841C>T	ENSP00000465570:p.Val911Ile		179357086	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.61	2.288512	0.40494	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64085	-0.08;0.16;0.14;0.13;0.32	5.52	2.74	0.32292	Ribonuclease H-like (1);	.	.	.	.	T	0.49813	0.1579	L	0.32530	0.975	0.09310	N	0.999999	B;B;B;B;B	0.16396	0.001;0.001;0.001;0.01;0.017	B;B;B;B;B	0.12156	0.0;0.0;0.001;0.002;0.007	T	0.45702	-0.9243	9	0.87932	D	0	.	8.793	0.34863	0.0:0.7396:0.1248:0.1356	.	865;865;865;911;911	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	911;865;865;865;865;911	ENSP00000343764:V911I;ENSP00000434586:V865I;ENSP00000340554:V865I;ENSP00000352154:V865I;ENSP00000354117:V911I	ENSP00000340554:V865I	V	-	1	0	TTN	179357086	0.002000	0.14202	0.249000	0.24280	0.218000	0.24690	0.197000	0.17197	0.385000	0.24970	-0.136000	0.14681	GTC		0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179648841	C	T	179648841	3	4	356	1	0	0	0	0	1	0	0	0	16735	536	19	1	108645	1	TTN	2	179648841	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	244174	179648841	63550532	11	19473											
MPP4	58538	broad.mit.edu	37	2	202539965	202539965	+	Missense_Mutation	SNP	G	G	A	rs377589827		TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr2:202539965G>A	ENST00000409474.3	-	11	1166	c.959C>T	c.(958-960)cCg>cTg	p.P320L	MPP4_ENST00000428900.2_Missense_Mutation_p.P320L|MPP4_ENST00000409143.1_Missense_Mutation_p.P293L|MPP4_ENST00000396886.3_Missense_Mutation_p.P276L|MPP4_ENST00000359962.5_Missense_Mutation_p.P320L|MPP4_ENST00000315506.7_Missense_Mutation_p.P307L|MPP4_ENST00000447335.2_Missense_Mutation_p.P320L	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	320					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.P320L(1)		kidney(1)|lung(11)	12						AGGCTGGTACGGCTGAGACCA	0.458																																																1	Substitution - Missense(1)	ovary(1)	2						G	LEU/PRO	1,3817		0,1,1908	54	57	56		959	4.7	1	2		56	0,8218		0,0,4109	no	missense	MPP4	NM_033066.2	98	0,1,6017	AA,AG,GG		0.0,0.0262,0.0083	possibly-damaging	320/638	202539965	1,12035	1909	4109	6018	202248210	SO:0001583	missense	58538			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.959C>T	2.37:g.202539965G>A	ENSP00000387278:p.Pro320Leu		202248210	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879682	0.91740	2.62E-4	0.0	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.65	4.65	0.58169	Src homology-3 domain (1);	0.136430	0.49916	D	0.000127	D	0.90170	0.6928	M	0.69823	2.125	0.80722	D	1	P;B;P;D;P;B;B	0.89917	0.945;0.01;0.909;1.0;0.945;0.157;0.254	P;B;P;D;P;B;B	0.77557	0.678;0.016;0.479;0.99;0.678;0.062;0.062	D	0.89858	0.4014	10	0.42905	T	0.14	.	17.7141	0.88331	0.0:0.0:1.0:0.0	.	293;276;320;320;307;320;320	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8	.;.;.;.;.;.;MPP4_HUMAN	L	320;307;276;320;249;320;293;320	ENSP00000387278:P320L;ENSP00000319363:P307L;ENSP00000353047:P320L;ENSP00000416781:P320L;ENSP00000387293:P293L;ENSP00000406160:P320L	ENSP00000319363:P307L	P	-	2	0	MPP4	202248210	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	9.102000	0.94226	2.418000	0.82041	0.555000	0.69702	CCG		0.458	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			A	202539965	G	A	202539965	3	1	356	1	0	0	0	0	1	0	0	0	9736	1116	39	1	1002	1	MPP4	2	202539965	Missense_Mutation	SNP	G	TCGA-29-2427-01A-01W-0799-08	22891124	202539965	40659408	12	19474											
ZNF621	285268	broad.mit.edu	37	3	40573881	40573881	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr3:40573881A>G	ENST00000339296.5	+	5	1072	c.620A>G	c.(619-621)tAt>tGt	p.Y207C	ZNF621_ENST00000431278.1_Missense_Mutation_p.Y96C|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.Y207C|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	207					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.Y207C(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		GAAGGGCCCTATGAATGTAAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											93	92	93					3																	40573881		2203	4300	6503	40548885	SO:0001583	missense	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.620A>G	3.37:g.40573881A>G	ENSP00000340841:p.Tyr207Cys		40548885	Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	a	13.22	2.170969	0.38315	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.25414	1.8;1.8;1.8	4.07	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37178	N	0.002206	T	0.48409	0.1498	M	0.86953	2.85	0.80722	D	1	P;D	0.89917	0.56;1.0	B;D	0.91635	0.233;0.999	T	0.47182	-0.9137	10	0.72032	D	0.01	.	3.6392	0.08161	0.7046:0.0:0.1041:0.1913	.	96;207	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	C	207;207;96	ENSP00000386051:Y207C;ENSP00000340841:Y207C;ENSP00000413236:Y96C	ENSP00000340841:Y207C	Y	+	2	0	ZNF621	40548885	0.116000	0.22171	0.918000	0.36340	0.788000	0.44548	0.755000	0.26405	0.896000	0.36366	-0.290000	0.09829	TAT		0.438	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		G	40573881	A	G	40573881	3	3	356	1	0	0	0	0	1	0	0	0	18045	449	16	4	634	4	ZNF621	3	40573881	Missense_Mutation	SNP	A	TCGA-29-2427-01A-01W-0799-08		40573881	157448549	13	19475											
HHATL	57467	broad.mit.edu	37	3	42738341	42738341	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr3:42738341G>T	ENST00000441594.1	-	9	1300	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	HHATL_ENST00000310417.5_Missense_Mutation_p.L347I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	347					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.L347I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CACTTGCAAAGCCAGTCGTTG	0.572																																																1	Substitution - Missense(1)	ovary(1)	3											54	45	48					3																	42738341		2203	4300	6503	42713345	SO:0001583	missense	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1039C>A	3.37:g.42738341G>T	ENSP00000405423:p.Leu347Ile		42713345	Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.6|25.6	4.652958|4.652958	0.88056|0.88056	.|.	.|.	ENSG00000010282|ENSG00000010282	ENST00000426666|ENST00000310417;ENST00000441594	.|D;D	.|0.84800	.|-1.9;-1.9	4.21|4.21	4.21|4.21	0.49690|0.49690	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92338|0.92338	0.7569|0.7569	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.74348	.|0.983	D|D	0.91763|0.91763	0.5421|0.5421	5|10	.|0.30078	.|T	.|0.28	-12.8595|-12.8595	16.9647|16.9647	0.86282|0.86282	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|347	.|Q9HCP6	.|HHATL_HUMAN	D|I	43|347	.|ENSP00000310621:L347I;ENSP00000405423:L347I	.|ENSP00000310621:L347I	A|L	-|-	2|1	0|0	HHATL|HHATL	42713345|42713345	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	4.718000|4.718000	0.61930|0.61930	2.056000|2.056000	0.61249|0.61249	0.550000|0.550000	0.68814|0.68814	GCT|CTT		0.572	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		T	42738341	G	T	42738341	3	4	356	1	0	0	0	0	1	0	0	0	7090	971	34	3	491	3	HHATL	3	42738341	Missense_Mutation	SNP	G	TCGA-29-2427-01A-01W-0799-08	2164460	42738341	155284089	14	19476											
ODAM	54959	broad.mit.edu	37	4	71064329	71064329	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr4:71064329C>G	ENST00000396094.2	+	5	457	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	137	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.Q137E(1)|p.Q137*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAAAATGCCTCAAGAGCAAGG	0.378																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	ovary(1)|breast(1)	4											119	116	117					4																	71064329		2203	4300	6503	71098918	SO:0001583	missense	54959			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.409C>G	4.37:g.71064329C>G	ENSP00000379401:p.Gln137Glu		71098918	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375412	0.42105	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.52983	0.64;0.64	4.82	4.82	0.62117	.	0.000000	0.44688	D	0.000422	T	0.54759	0.1878	L	0.55481	1.735	0.26801	N	0.969208	D	0.60160	0.987	P	0.54499	0.754	T	0.50558	-0.8814	10	0.41790	T	0.15	-1.0321	13.5877	0.61942	0.0:1.0:0.0:0.0	.	137	A1E959	ODAM_HUMAN	E	137;123;90	ENSP00000379401:Q137E;ENSP00000426106:Q90E	ENSP00000379401:Q137E	Q	+	1	0	ODAM	71098918	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	1.259000	0.32956	2.667000	0.90743	0.455000	0.32223	CAA		0.378	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		G	71064329	C	G	71064329	3	3	356	1	0	0	0	0	1	0	0	0	10824	827	29	3	427	3	ODAM	4	71064329	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08		71064329	120089947	15	19477											
PLAC8	51316	broad.mit.edu	37	4	84026174	84026174	+	Splice_Site	SNP	C	C	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr4:84026174C>A	ENST00000509973.1	-	2	71		c.e2-1		PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000505406.1_Splice_Site|PLAC8_ENST00000426923.2_Splice_Site|PLAC8_ENST00000411416.2_Splice_Site|PLAC8_ENST00000311507.4_Splice_Site			Q9UHV8	PP13_HUMAN	placenta-specific 8						apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.?(1)		large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CCACAGAGACCTAGACACATG	0.498																																																1	Unknown(1)	ovary(1)	4											70	60	63					4																	84026174		2203	4300	6503	84245198	SO:0001630	splice_region_variant	51316			AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.53-1G>T	4.37:g.84026174C>A			84245198	C5HZ15	Splice_Site	SNP	ENST00000509973.1	37		.	.	.	.	.	.	.	.	.	.	C	12.84	2.058373	0.36277	.	.	ENSG00000145287	ENST00000311507;ENST00000411416;ENST00000505406;ENST00000426923	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3879	0.83522	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLAC8	84245198	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	4.928000	0.63447	2.676000	0.91093	0.561000	0.74099	.		0.498	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363078.1	NM_016619	Intron	A	84026174	C	A	84026174	5	1	356	1	0	0	0	0	0	0	1	0	12015	695	24	3	237	3	PLAC8	4	84026174	Splice_Site	SNP	C	TCGA-29-2427-01A-01W-0799-08	12961845	84026174	107128102	16	19478											
KIAA1109	84162	broad.mit.edu	37	4	123132179	123132179	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr4:123132179G>C	ENST00000264501.4	+	20	2549	c.2176G>C	c.(2176-2178)Gaa>Caa	p.E726Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E726Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E726Q|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	726					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E726Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTTCATGTAGAAATGGAACT	0.393																																																1	Substitution - Missense(1)	ovary(1)	4											101	92	95					4																	123132179		1830	4087	5917	123351629	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2176G>C	4.37:g.123132179G>C	ENSP00000264501:p.Glu726Gln		123351629	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.719538|4.719538	0.89205|0.89205	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.30714|.	2.11;2.11;1.52|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	24.190000|.	0.00166|.	U|.	0.000001|.	T|T	0.76456|0.76456	0.3990|0.3990	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.993|.	D;D|.	0.85130|.	0.997;0.979|.	T|T	0.76697|0.76697	-0.2864|-0.2864	10|5	0.62326|.	D|.	0.03|.	.|.	18.593|18.593	0.91220|0.91220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	726;726|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	Q|T	726|558	ENSP00000264501:E726Q;ENSP00000373390:E726Q;ENSP00000389925:E726Q|.	ENSP00000264501:E726Q|.	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123351629|123351629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.064000|9.064000	0.93933|0.93933	2.462000|2.462000	0.83206|0.83206	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123132179	G	C	123132179	3	2	356	1	0	0	0	0	1	0	0	0	8208	943	33	3	2246	3	KIAA1109	4	123132179	Missense_Mutation	SNP	G	TCGA-29-2427-01A-01W-0799-08	39106005	123132179	68022097	17	19479											
HEATR7B2	133558	broad.mit.edu	37	5	41033155	41033155	+	Silent	SNP	A	A	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr5:41033155A>T	ENST00000399564.4	-	23	2799	c.2349T>A	c.(2347-2349)atT>atA	p.I783I	MROH2B_ENST00000506092.2_Silent_p.I338I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	783								p.I783I(1)									GCATGTAACCAATCAGCATCT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	5											122	112	115					5																	41033155		2009	4174	6183	41068912	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2349T>A	5.37:g.41033155A>T			41068912	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.433	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41033155	A	T	41033155	2	4	356	1	0	0	0	0	0	0	0	1	7035	126	5	5		5	HEATR7B2	5	41033155	Silent	SNP	A	TCGA-29-2427-01A-01W-0799-08		41033155	139882105	18	19480											
TRIM36	55521	broad.mit.edu	37	5	114469588	114469588	+	Silent	SNP	T	T	C			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr5:114469588T>C	ENST00000282369.3	-	8	1624	c.1503A>G	c.(1501-1503)agA>agG	p.R501R	TRIM36_ENST00000513154.1_Silent_p.R489R|TRIM36_ENST00000514154.1_Silent_p.R346R	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	501	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R501R(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAATCAATTCTCTGCTGCAAG	0.368																																																1	Substitution - coding silent(1)	ovary(1)	5											98	91	94					5																	114469588		2202	4300	6502	114497487	SO:0001819	synonymous_variant	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1503A>G	5.37:g.114469588T>C			114497487	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	37	CCDS4115.1																																																																																				0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		C	114469588	T	C	114469588	2	2	356	1	0	0	0	0	0	0	0	1	16510	1548	54	4		4	TRIM36	5	114469588	Silent	SNP	T	TCGA-29-2427-01A-01W-0799-08	73436433	114469588	66445672	19	19481											
HSD17B4	3295	broad.mit.edu	37	5	118835234	118835234	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr5:118835234A>G	ENST00000256216.6	+	13	1328	c.1195A>G	c.(1195-1197)Atc>Gtc	p.I399V	HSD17B4_ENST00000509514.1_Missense_Mutation_p.I137V|HSD17B4_ENST00000513628.1_Missense_Mutation_p.I262V|HSD17B4_ENST00000515320.1_Missense_Mutation_p.I381V|HSD17B4_ENST00000414835.2_Missense_Mutation_p.I259V|HSD17B4_ENST00000504811.1_Missense_Mutation_p.I424V|HSD17B4_ENST00000510025.1_Missense_Mutation_p.I375V	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	399	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I399V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TGGACTTTCAATCAACTTTGC	0.333																																					Colon(35;490 801 34689 41394 43344)											1	Substitution - Missense(1)	ovary(1)	5											114	125	121					5																	118835234		2202	4300	6502	118863133	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1195A>G	5.37:g.118835234A>G	ENSP00000256216:p.Ile399Val		118863133	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	A	8.658	0.899782	0.17686	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.49	-7.72	0.01250	.	0.334930	0.36034	N	0.002821	T	0.54631	0.1870	N	0.25201	0.72	0.41084	D	0.985548	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.19778	-1.0295	10	0.21014	T	0.42	-1.4753	3.9434	0.09338	0.4319:0.1039:0.3637:0.1005	.	424;381;375;137;399	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	V	399;381;375;424;259;262;137	ENSP00000256216:I399V;ENSP00000424613:I381V;ENSP00000424940:I375V;ENSP00000420914:I424V;ENSP00000411960:I259V;ENSP00000425993:I262V;ENSP00000426272:I137V	ENSP00000256216:I399V	I	+	1	0	HSD17B4	118863133	0.052000	0.20516	0.458000	0.27068	0.917000	0.54804	-0.019000	0.12546	-1.837000	0.01189	-0.385000	0.06624	ATC		0.333	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		G	118835234	A	G	118835234	3	3	356	1	0	0	0	0	1	0	0	0	7386	101	4	4	1245	4	HSD17B4	5	118835234	Missense_Mutation	SNP	A	TCGA-29-2427-01A-01W-0799-08	4365646	118835234	62080026	20	19482											
GRIA1	2890	broad.mit.edu	37	5	153190758	153190758	+	Silent	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr5:153190758G>A	ENST00000285900.5	+	16	3037	c.2694G>A	c.(2692-2694)ggG>ggA	p.G898G	GRIA1_ENST00000518142.1_Silent_p.G818G|GRIA1_ENST00000521843.2_Silent_p.G829G|GRIA1_ENST00000518783.1_Silent_p.G908G|GRIA1_ENST00000340592.5_Silent_p.G898G|GRIA1_ENST00000448073.4_Silent_p.G908G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	898					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.G898G(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACAGTTCAGGGATGCCCTTGG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	5											49	45	47					5																	153190758		2203	4300	6503	153170951	SO:0001819	synonymous_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2694G>A	5.37:g.153190758G>A			153170951	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1																																																																																				0.607	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			A	153190758	G	A	153190758	2	1	356	1	0	0	0	0	0	0	0	1	6767	1161	41	2		2	GRIA1	5	153190758	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08	34355524	153190758	27724502	21	19483											
GABRA6	2559	broad.mit.edu	37	5	161128619	161128619	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr5:161128619C>T	ENST00000274545.5	+	9	1635	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L	GABRA6_ENST00000523217.1_Missense_Mutation_p.P391L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	401					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.P401L(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)	CAATCAACACCTGTCACACCC	0.463										TCGA Ovarian(5;0.080)																																						1	Substitution - Missense(1)	ovary(1)	5											110	104	106					5																	161128619		2203	4300	6503	161061197	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.1202C>T	5.37:g.161128619C>T	ENSP00000274545:p.Pro401Leu		161061197	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728797	0.15507	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.82984	-1.67;-1.67	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.679458	0.15509	N	0.258620	T	0.71863	0.3390	N	0.22421	0.69	0.21184	N	0.999768	B	0.02656	0.0	B	0.06405	0.002	T	0.59467	-0.7449	10	0.39692	T	0.17	.	10.1517	0.42799	0.2484:0.6257:0.1259:0.0	.	401	Q16445	GBRA6_HUMAN	L	401;391	ENSP00000274545:P401L;ENSP00000430527:P391L	ENSP00000274545:P401L	P	+	2	0	GABRA6	161061197	0.492000	0.26027	0.987000	0.45799	0.200000	0.23975	3.174000	0.50847	2.571000	0.86741	0.655000	0.94253	CCT		0.463	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			T	161128619	C	T	161128619	3	4	356	1	0	0	0	0	1	0	0	0	6165	681	24	2	1236	2	GABRA6	5	161128619	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	7937861	161128619	19786641	22	19484											
HLA-G	3135	broad.mit.edu	37	6	29797596	29797596	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr6:29797596A>C	ENST00000360323.6	+	5	923	c.899A>C	c.(898-900)cAg>cCg	p.Q300P	HLA-G_ENST00000376828.2_Missense_Mutation_p.Q305P|HLA-G_ENST00000376818.3_Missense_Mutation_p.Q208P|HLA-G_ENST00000376815.3_Missense_Mutation_p.Q116P|HLA-G_ENST00000428701.1_Missense_Mutation_p.Q300P			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	300	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Q300P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCCAGAGCAGTCTTCCCTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	6											99	83	89					6																	29797596		2203	4300	6503	29905575	SO:0001583	missense	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.899A>C	6.37:g.29797596A>C	ENSP00000353472:p.Gln300Pro		29905575		Missense_Mutation	SNP	ENST00000360323.6	37	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.102057	0.00360	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00640	6.21;6.19;6.19;6.03;6.17	2.04	2.04	0.26737	Immunoglobulin-like fold (1);	0.183777	0.25854	N	0.027870	T	0.00039	0.0001	N	0.00006	-3.195	0.09310	N	1	B;B;B;B	0.32396	0.369;0.0;0.0;0.0	B;B;B;B	0.32677	0.15;0.0;0.0;0.0	T	0.04386	-1.0955	10	0.02654	T	1	.	6.0336	0.19694	0.3058:0.6942:0.0:0.0	.	116;305;208;300	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	P	305;300;300;208;116	ENSP00000366024:Q305P;ENSP00000412927:Q300P;ENSP00000353472:Q300P;ENSP00000366014:Q208P;ENSP00000366011:Q116P	ENSP00000353472:Q300P	Q	+	2	0	HLA-G	29905575	0.000000	0.05858	0.006000	0.13384	0.025000	0.11179	-0.221000	0.09202	0.006000	0.14734	-0.778000	0.03378	CAG		0.587	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		C	29797596	A	C	29797596	3	2	356	1	0	0	0	0	1	0	0	0	7212	188	7	5	917	5	HLA-G	6	29797596	Missense_Mutation	SNP	A	TCGA-29-2427-01A-01W-0799-08		29797596	141317471	23	19485											
DNAH8	1769	broad.mit.edu	37	6	38867667	38867667	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr6:38867667A>C	ENST00000359357.3	+	60	8782	c.8528A>C	c.(8527-8529)cAg>cCg	p.Q2843P	DNAH8_ENST00000449981.2_Missense_Mutation_p.Q3060P|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q2807P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2843	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q2843P(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAATATTCCAGATAACATTA	0.353																																																1	Substitution - Missense(1)	ovary(1)	6																																								38975645	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8528A>C	6.37:g.38867667A>C	ENSP00000352312:p.Gln2843Pro		38975645	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	24.6	4.552174	0.86127	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.54279	0.58;0.58;0.58	6.17	6.17	0.99709	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88311	0.2956	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	2843	Q96JB1	DYH8_HUMAN	P	3048;3048;2843;2807	ENSP00000333363:Q3048P;ENSP00000352312:Q2843P;ENSP00000402294:Q2807P	ENSP00000333363:Q3048P	Q	+	2	0	DNAH8	38975645	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.268000	0.95675	2.371000	0.80710	0.533000	0.62120	CAG		0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38867667	A	C	38867667	3	2	356	1	0	0	0	0	1	0	0	0	4607	188	7	5	8758	5	DNAH8	6	38867667	Missense_Mutation	SNP	A	TCGA-29-2427-01A-01W-0799-08	9070071	38867667	132247400	24	19486											
GPR63	81491	broad.mit.edu	37	6	97247257	97247257	+	Silent	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr6:97247257G>A	ENST00000229955.3	-	2	696	c.351C>T	c.(349-351)aaC>aaT	p.N117N	GPR63_ENST00000417980.1_Silent_p.N117N	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.N117N(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CAAGGAGGATGTTAATTGCAG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	6											85	85	85					6																	97247257		2203	4300	6503	97353978	SO:0001819	synonymous_variant	81491			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.351C>T	6.37:g.97247257G>A			97353978	Q9UJH3	Silent	SNP	ENST00000229955.3	37	CCDS5036.1																																																																																				0.428	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			A	97247257	G	A	97247257	2	1	356	1	0	0	0	0	0	0	0	1	6704	1368	48	2		2	GPR63	6	97247257	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08	58379590	97247257	73867810	25	19487											
SYNE1	23345	broad.mit.edu	37	6	152590381	152590381	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr6:152590381G>T	ENST00000367255.5	-	99	19215	c.18614C>A	c.(18613-18615)aCa>aAa	p.T6205K	SYNE1_ENST00000341594.5_Missense_Mutation_p.T5817K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T6134K|SYNE1_ENST00000356820.4_Missense_Mutation_p.T729K|SYNE1_ENST00000265368.4_Missense_Mutation_p.T6205K|SYNE1_ENST00000448038.1_Missense_Mutation_p.T6134K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6205					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T6205K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCGTGGCTGTTAGGTCAAC	0.547										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											161	125	137					6																	152590381		2203	4300	6503	152632074	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18614C>A	6.37:g.152590381G>T	ENSP00000356224:p.Thr6205Lys		152632074	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	5.047	0.194388	0.09599	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.52057	0.77;0.77;0.68;0.77;0.87;0.99	5.57	0.61	0.17580	.	0.978808	0.08384	N	0.953997	T	0.13841	0.0335	L	0.47716	1.5	0.09310	N	1	B;B;B	0.31383	0.134;0.134;0.321	B;B;B	0.29942	0.051;0.051;0.109	T	0.26360	-1.0105	10	0.18276	T	0.48	.	2.247	0.04033	0.3157:0.1184:0.4449:0.1211	.	6205;6205;6134	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	K	6205;6134;6205;6134;5817;729	ENSP00000356224:T6205K;ENSP00000396024:T6134K;ENSP00000265368:T6205K;ENSP00000390975:T6134K;ENSP00000341887:T5817K;ENSP00000349276:T729K	ENSP00000265368:T6205K	T	-	2	0	SYNE1	152632074	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.536000	0.23129	-0.102000	0.12197	-0.140000	0.14226	ACA		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152590381	G	T	152590381	3	4	356	1	0	0	0	0	1	0	0	0	15445	1377	48	3	8044	3	SYNE1	6	152590381	Missense_Mutation	SNP	G	TCGA-29-2427-01A-01W-0799-08	55343124	152590381	18524686	26	19488											
LPA	4018	broad.mit.edu	37	6	160977189	160977189	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr6:160977189C>T	ENST00000316300.5	-	30	4885	c.4841G>A	c.(4840-4842)cGg>cAg	p.R1614Q	LPA_ENST00000447678.1_Missense_Mutation_p.R1614Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4122	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.R1614Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTAGCACTGCCGGACCACAGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											110	113	112					6																	160977189		2165	4296	6461	160897179	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4841G>A	6.37:g.160977189C>T	ENSP00000321334:p.Arg1614Gln		160897179	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.309139	0.00237	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62232	0.04;0.04	2.6	1.38	0.22167	Kringle (2);Kringle-like fold (1);	.	.	.	.	T	0.05593	0.0147	N	0.00686	-1.255	0.18873	N	0.999986	P	0.36535	0.557	B	0.27262	0.078	T	0.15435	-1.0437	9	0.09084	T	0.74	.	2.2969	0.04153	0.2193:0.2679:0.0:0.5129	.	4122	P08519	APOA_HUMAN	Q	1614	ENSP00000321334:R1614Q;ENSP00000395608:R1614Q	ENSP00000321334:R1614Q	R	-	2	0	LPA	160897179	0.994000	0.37717	0.951000	0.38953	0.042000	0.13812	1.672000	0.37523	0.226000	0.20979	-0.979000	0.02580	CGG		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	160977189	C	T	160977189	3	4	356	1	0	0	0	0	1	0	0	0	8903	652	23	1	1321	1	LPA	6	160977189	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	8386808	160977189	10137878	27	19489											
CARD11	84433	broad.mit.edu	37	7	2968267	2968267	+	Silent	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr7:2968267G>A	ENST00000396946.4	-	13	2122	c.1719C>T	c.(1717-1719)atC>atT	p.I573I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	573					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.I566I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCGTCTGACGATGGAGTCGT	0.642			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - coding silent(1)	ovary(1)	7											88	77	81					7																	2968267		2203	4300	6503	2934793	SO:0001819	synonymous_variant	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1719C>T	7.37:g.2968267G>A			2934793	A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	CCDS5336.2																																																																																				0.642	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2968267	G	A	2968267	2	1	356	1	0	0	0	0	0	0	0	1	2645	1048	37	1		1	CARD11	7	2968267	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08		2968267	156170396	28	19490											
CHPF2	54480	broad.mit.edu	37	7	150933500	150933500	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr7:150933500C>A	ENST00000035307.2	+	3	2348	c.835C>A	c.(835-837)Cag>Aag	p.Q279K	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.Q271K	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	279					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.Q279K(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTAGGGGCAGCAGTATCGCTC	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											85	74	78					7																	150933500		2203	4300	6503	150564433	SO:0001583	missense	54480			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.835C>A	7.37:g.150933500C>A	ENSP00000035307:p.Gln279Lys		150564433	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	9.803	1.181029	0.21787	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.14893	2.47;2.47	5.58	5.58	0.84498	.	0.577132	0.20236	N	0.096395	T	0.13243	0.0321	N	0.22421	0.69	0.58432	D	0.999991	B;B	0.30851	0.297;0.001	B;B	0.34452	0.183;0.002	T	0.02275	-1.1184	10	0.02654	T	1	-10.0419	18.5486	0.91055	0.0:1.0:0.0:0.0	.	279;271	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	K	271;279;279	ENSP00000418914:Q271K;ENSP00000035307:Q279K	ENSP00000035307:Q279K	Q	+	1	0	CHPF2	150564433	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	1.235000	0.32671	2.631000	0.89168	0.655000	0.94253	CAG		0.527	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		A	150933500	C	A	150933500	3	1	356	1	0	0	0	0	1	0	0	0	3369	711	25	3	845	3	CHPF2	7	150933500	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	147965233	150933500	8205163	29	19491											
PTPRN2	5799	broad.mit.edu	37	7	157874041	157874041	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr7:157874041C>T	ENST00000389418.4	-	11	1681	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	PTPRN2_ENST00000404321.2_Missense_Mutation_p.V581M|PTPRN2_ENST00000389413.3_Missense_Mutation_p.V529M|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V541M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V520M	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	558					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V558M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTGGCGCTCACTTTGAAGGTC	0.502																																																1	Substitution - Missense(1)	ovary(1)	7											301	212	242					7																	157874041		2203	4300	6503	157566802	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1672G>A	7.37:g.157874041C>T	ENSP00000374069:p.Val558Met		157566802	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132425	0.37630	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.05786	3.42;3.67;3.4;3.42;3.39	5.06	4.17	0.49024	.	0.464362	0.14485	U	0.316708	T	0.20292	0.0488	L	0.52573	1.65	0.32210	N	0.576637	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.99;0.994;0.99;0.986;0.994	T	0.08700	-1.0709	10	0.87932	D	0	.	14.3595	0.66761	0.0:0.851:0.149:0.0	.	581;520;529;541;558	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	M	520;529;541;558;581	ENSP00000387114:V520M;ENSP00000374064:V529M;ENSP00000374067:V541M;ENSP00000374069:V558M;ENSP00000385464:V581M	ENSP00000374064:V529M	V	-	1	0	PTPRN2	157566802	1.000000	0.71417	0.319000	0.25293	0.044000	0.14063	1.771000	0.38542	1.131000	0.42111	0.650000	0.86243	GTG		0.502	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			T	157874041	C	T	157874041	3	4	356	1	0	0	0	0	1	0	0	0	12811	565	20	2	1427	2	PTPRN2	7	157874041	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	6940541	157874041	1264622	30	19492											
NCAPG2	54892	broad.mit.edu	37	7	158476049	158476049	+	Silent	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr7:158476049G>A	ENST00000409423.1	-	10	1039	c.867C>T	c.(865-867)ttC>ttT	p.F289F	NCAPG2_ENST00000409339.3_Silent_p.F289F|NCAPG2_ENST00000356309.3_Silent_p.F289F|NCAPG2_ENST00000449727.2_Silent_p.F289F|NCAPG2_ENST00000275830.10_Silent_p.F81F	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	289					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.F289F(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CGTGGAACATGAAGTCCTGGA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	7											162	158	159					7																	158476049		1935	4138	6073	158168810	SO:0001819	synonymous_variant	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.867C>T	7.37:g.158476049G>A			158168810	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095040	0.20471	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.5	2.58	0.30949	.	.	.	.	.	T	0.55529	0.1926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45833	-0.9234	4	.	.	.	-4.7531	7.3466	0.26666	0.1383:0.2615:0.6002:0.0	.	.	.	.	L	91	.	.	S	-	2	0	NCAPG2	158168810	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.857000	0.27831	0.319000	0.23209	0.655000	0.94253	TCA		0.458	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		A	158476049	G	A	158476049	2	1	356	1	0	0	0	0	0	0	0	1	10208	1281	45	2		2	NCAPG2	7	158476049	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08	602008	158476049	662614	31	19493											
CSMD3	114788	broad.mit.edu	37	8	113358402	113358402	+	Missense_Mutation	SNP	G	G	C	rs139487815	byFrequency	TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr8:113358402G>C	ENST00000297405.5	-	41	6610	c.6366C>G	c.(6364-6366)atC>atG	p.I2122M	CSMD3_ENST00000455883.2_Missense_Mutation_p.I2018M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2082M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2052M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2122	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I2122M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGACTGAGGATCACACCAC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											111	112	112					8																	113358402		2203	4300	6503	113427578	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6366C>G	8.37:g.113358402G>C	ENSP00000297405:p.Ile2122Met		113427578	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187682	0.57909	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.44	1.21	0.21127	CUB (5);	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	M	0.92459	3.31	0.43408	D	0.995543	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.981	T	0.61247	-0.7101	10	0.72032	D	0.01	.	4.3492	0.11148	0.3625:0.0:0.3939:0.2437	.	2018;2122;2082	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	2082;2122;1392;2018;2052	ENSP00000345799:I2082M;ENSP00000297405:I2122M;ENSP00000341558:I1392M;ENSP00000412263:I2018M;ENSP00000343124:I2052M	ENSP00000297405:I2122M	I	-	3	3	CSMD3	113427578	1.000000	0.71417	0.983000	0.44433	0.962000	0.63368	0.829000	0.27449	0.035000	0.15519	0.650000	0.86243	ATC		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113358402	G	C	113358402	3	2	356	1	0	0	0	0	1	0	0	0	3946	1164	41	3	4881	3	CSMD3	8	113358402	Missense_Mutation	SNP	G	TCGA-29-2427-01A-01W-0799-08		113358402	33005620	32	19494											
VPS13A	23230	broad.mit.edu	37	9	79897051	79897051	+	Frame_Shift_Del	DEL	T	T	-			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	T	T	-	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr9:79897051delT	ENST00000360280.3	+	29	3239	c.2979delT	c.(2977-2979)tctfs	p.S993fs	VPS13A_ENST00000357409.5_Frame_Shift_Del_p.S993fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.S993fs|VPS13A_ENST00000376634.4_Frame_Shift_Del_p.S993fs|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	993					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.L994fs*11(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTTTTCCTCTTTGGATATTC	0.358																																																1	Deletion - Frameshift(1)	ovary(1)	9											77	83	81					9																	79897051		2203	4296	6499	79086871	SO:0001589	frameshift_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2979delT	9.37:g.79897051delT	ENSP00000353422:p.Ser993fs		79086871	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	ENST00000360280.3	37	CCDS6655.1																																																																																				0.358	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		-	79897051	T	-	79897051	7	5	356	1	0	1	0	1	0	0	0	0	17189	1596	56	0	3093	0	VPS13A	9	79897051	Frame_Shift_Del	DEL	T	TCGA-29-2427-01A-01W-0799-08		79897051	61316380	33	19495											
C5	727	broad.mit.edu	37	9	123739086	123739086	+	Silent	SNP	G	G	C			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr9:123739086G>C	ENST00000223642.1	-	29	3785	c.3756C>G	c.(3754-3756)gcC>gcG	p.A1252A		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1252					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.A1252A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GTAAAGCATAGGCAGTTGTTT	0.403																																																1	Substitution - coding silent(1)	ovary(1)	9											174	154	161					9																	123739086		2203	4300	6503	122778907	SO:0001819	synonymous_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3756C>G	9.37:g.123739086G>C			122778907	Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	CCDS6826.1																																																																																				0.403	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		C	123739086	G	C	123739086	2	2	356	1	0	0	0	0	0	0	0	1	2280	987	35	3		3	C5	9	123739086	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08	43842035	123739086	17474345	34	19496											
MYST4	23522	broad.mit.edu	37	10	76784924	76784924	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr10:76784924A>T	ENST00000287239.4	+	17	4070	c.3581A>T	c.(3580-3582)cAg>cTg	p.Q1194L	RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.Q1011L|KAT6B_ENST00000372725.1_Missense_Mutation_p.Q902L|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.Q902L|KAT6B_ENST00000372724.1_Missense_Mutation_p.Q902L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1194					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q1194L(1)									AAAGCATTCCAGCATCAGCCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											100	92	95					10																	76784924		2203	4300	6503	76454930	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3581A>T	10.37:g.76784924A>T	ENSP00000287239:p.Gln1194Leu		76454930	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.897598	0.52121	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.76968	2.16;2.16;-1.06;2.16;-1.06	5.66	4.49	0.54785	.	0.157221	0.29579	N	0.011756	T	0.64338	0.2589	L	0.36672	1.1	0.32308	N	0.564075	B;B;P	0.34909	0.018;0.039;0.475	B;B;B	0.26770	0.013;0.032;0.073	T	0.66674	-0.5864	10	0.27082	T	0.32	-4.0365	11.4067	0.49902	0.8488:0.1512:0.0:0.0	.	1011;902;1194	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	L	902;902;1194;902;1011	ENSP00000361810:Q902L;ENSP00000361809:Q902L;ENSP00000287239:Q1194L;ENSP00000361799:Q902L;ENSP00000361796:Q1011L	ENSP00000287239:Q1194L	Q	+	2	0	KAT6B	76454930	0.974000	0.33945	0.990000	0.47175	0.995000	0.86356	4.154000	0.58125	0.925000	0.37094	0.533000	0.62120	CAG		0.468	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		T	76784924	A	T	76784924	3	4	356	1	0	0	0	0	1	0	0	0	10105	188	7	5	3639	5	MYST4	10	76784924	Missense_Mutation	SNP	A	TCGA-29-2427-01A-01W-0799-08		76784924	58749823	35	19497											
PAAF1	80227	broad.mit.edu	37	11	73611394	73611394	+	Missense_Mutation	SNP	T	T	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr11:73611394T>A	ENST00000310571.3	+	6	514	c.461T>A	c.(460-462)aTg>aAg	p.M154K	PAAF1_ENST00000536003.1_Missense_Mutation_p.M137K|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000544552.1_Missense_Mutation_p.M137K|PAAF1_ENST00000541951.1_Missense_Mutation_p.M39K|PAAF1_ENST00000376384.5_Missense_Mutation_p.M137K|PAAF1_ENST00000535604.1_Missense_Mutation_p.M39K|PAAF1_ENST00000544909.1_Missense_Mutation_p.M155K	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	154					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.M154K(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGTGGGGGAATGGATGCCCAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											167	161	163					11																	73611394		2200	4293	6493	73289042	SO:0001583	missense	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"WD repeat domain containing"	25687	protein-coding gene	gene with protein product			"WD repeat domain 71"	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.461T>A	11.37:g.73611394T>A	ENSP00000311665:p.Met154Lys		73289042	A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219209	0.58560	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000536582;ENST00000544909	T;T;T;T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;2.29;0.3;0.3;0.3	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.060631	0.64402	D	0.000002	T	0.56514	0.1990	N	0.11201	0.11	0.51767	D	0.999939	D;D	0.54772	0.96;0.968	D;D	0.67900	0.948;0.954	T	0.57435	-0.7812	10	0.23891	T	0.37	-10.8456	14.8664	0.70419	0.0:0.0:0.0:1.0	.	137;154	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	K	39;154;137;137;39;39;137;137;18;137;132;155	ENSP00000441333:M39K;ENSP00000311665:M154K;ENSP00000439747:M137K;ENSP00000438894:M137K;ENSP00000438789:M39K;ENSP00000439143:M39K;ENSP00000438124:M137K;ENSP00000441494:M137K;ENSP00000439877:M18K;ENSP00000365564:M137K;ENSP00000443473:M132K;ENSP00000438071:M155K	ENSP00000311665:M154K	M	+	2	0	PAAF1	73289042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.750000	0.68712	2.185000	0.69588	0.528000	0.53228	ATG		0.453	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		A	73611394	T	A	73611394	3	1	356	1	0	0	0	0	1	0	0	0	11362	1464	51	5	483	5	PAAF1	11	73611394	Missense_Mutation	SNP	T	TCGA-29-2427-01A-01W-0799-08		73611394	61395122	36	19498											
PRMT8	56341	broad.mit.edu	37	12	3686074	3686074	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr12:3686074C>G	ENST00000382622.3	+	7	1140	c.750C>G	c.(748-750)atC>atG	p.I250M	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.I241M	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	250	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.I250M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGACCTGCATCCGGGACGTGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	12											285	254	265					12																	3686074		2203	4300	6503	3556335	SO:0001583	missense	56341			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.750C>G	12.37:g.3686074C>G	ENSP00000372067:p.Ile250Met		3556335	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	9.512	1.105912	0.20632	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.22539	1.95;1.95	5.23	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	L	0.33792	1.035	0.80722	D	1	B;B	0.22346	0.068;0.009	B;B	0.26202	0.067;0.031	T	0.10636	-1.0621	10	0.20519	T	0.43	.	8.9478	0.35769	0.0:0.7538:0.0:0.2462	.	241;250	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	M	241;250	ENSP00000414507:I241M;ENSP00000372067:I250M	ENSP00000372067:I250M	I	+	3	3	PRMT8	3556335	1.000000	0.71417	0.996000	0.52242	0.296000	0.27459	0.892000	0.28322	0.237000	0.21200	-0.123000	0.14984	ATC		0.572	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		G	3686074	C	G	3686074	3	3	356	1	0	0	0	0	1	0	0	0	12545	845	30	3	776	3	PRMT8	12	3686074	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08		3686074	130165821	37	19499											
MGAT4C	25834	broad.mit.edu	37	12	86377377	86377377	+	Silent	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr12:86377377G>A	ENST00000604798.1	-	7	1423	c.219C>T	c.(217-219)ttC>ttT	p.F73F	MGAT4C_ENST00000552808.2_Silent_p.F73F|MGAT4C_ENST00000548651.1_Silent_p.F73F|MGAT4C_ENST00000332156.1_Silent_p.F73F|MGAT4C_ENST00000393205.2_Silent_p.F102F|MGAT4C_ENST00000549405.2_Silent_p.F73F|MGAT4C_ENST00000552435.2_Silent_p.F73F			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	73					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.F73F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATAAATCCTTGAAAGTATGAA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	12											139	139	139					12																	86377377		2203	4300	6503	84901508	SO:0001819	synonymous_variant	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.219C>T	12.37:g.86377377G>A			84901508	B4DRH2|Q4G199|Q9UIU5	Silent	SNP	ENST00000604798.1	37	CCDS9030.1																																																																																				0.358	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		A	86377377	G	A	86377377	2	1	356	1	0	0	0	0	0	0	0	1	9547	1281	45	2		2	MGAT4C	12	86377377	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08	82691303	86377377	47474518	38	19500											
JPH4	84502	broad.mit.edu	37	14	24040671	24040671	+	Splice_Site	SNP	T	T	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr14:24040671T>A	ENST00000397118.3	-	6	2173		c.e6-2		JPH4_ENST00000544177.1_Splice_Site|JPH4_ENST00000356300.4_Splice_Site	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4						calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.?(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTCTGCGGCCTGGGTAGGGAT	0.592																																																1	Unknown(1)	ovary(1)	14											32	33	33					14																	24040671		2203	4298	6501	23110511	SO:0001630	splice_region_variant	84502			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1271-2A>T	14.37:g.24040671T>A			23110511	D3DS53|Q8ND44|Q96DQ0	Splice_Site	SNP	ENST00000397118.3	37	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669394	0.67814	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6826	0.51466	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	JPH4	23110511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.651000	0.46674	2.081000	0.62600	0.533000	0.62120	.		0.592	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452	Intron	A	24040671	T	A	24040671	5	1	356	1	0	0	0	0	0	0	1	0	7963	1594	55	5	625	5	JPH4	14	24040671	Splice_Site	SNP	T	TCGA-29-2427-01A-01W-0799-08		24040671	83308869	39	19501											
ZFYVE26	23503	broad.mit.edu	37	14	68252856	68252856	+	Silent	SNP	A	A	C			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr14:68252856A>C	ENST00000347230.4	-	17	3252	c.3114T>G	c.(3112-3114)ctT>ctG	p.L1038L	ZFYVE26_ENST00000555452.1_Silent_p.L1038L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1038					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L1038L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGCTGACATAAGCAGATAAT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	14											111	109	110					14																	68252856		2203	4300	6503	67322609	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3114T>G	14.37:g.68252856A>C			67322609	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																				0.413	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		C	68252856	A	C	68252856	2	2	356	1	0	0	0	0	0	0	0	1	17668	349	13	5		5	ZFYVE26	14	68252856	Silent	SNP	A	TCGA-29-2427-01A-01W-0799-08	44212185	68252856	39096684	40	19502											
SLC8A3	6547	broad.mit.edu	37	14	70633727	70633727	+	Silent	SNP	G	G	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr14:70633727G>A	ENST00000381269.2	-	2	2166	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	SLC8A3_ENST00000528359.1_Silent_p.D471D|SLC8A3_ENST00000356921.2_Silent_p.D471D|SLC8A3_ENST00000357887.3_Silent_p.D471D|SLC8A3_ENST00000534137.1_Silent_p.D471D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	471	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.D471D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAAAATGTCGTCATCAATTA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	14											162	163	163					14																	70633727		2203	4300	6503	69703480	SO:0001819	synonymous_variant	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1413C>T	14.37:g.70633727G>A			69703480	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																				0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			A	70633727	G	A	70633727	2	1	356	1	0	0	0	0	0	0	0	1	14711	1136	40	1		1	SLC8A3	14	70633727	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08	2380871	70633727	36715813	41	19503											
FMN1	342184	broad.mit.edu	37	15	33066556	33066556	+	Splice_Site	SNP	C	C	G			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr15:33066556C>G	ENST00000559047.1	-	18	4215		c.e18-1		FMN1_ENST00000561249.1_Splice_Site|FMN1_ENST00000334528.9_Splice_Site			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GTCTTTCTTTCTGTTAAGGAA	0.388																																																1	Unknown(1)	ovary(1)	15											98	92	94					15																	33066556		1908	4130	6038	30853848	SO:0001630	splice_region_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4216-1G>C	15.37:g.33066556C>G			30853848	Q3B7I6|Q3ZAR4|Q6ZSY1	Splice_Site	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	19.31	3.803914	0.70682	.	.	ENSG00000248905	ENST00000334528	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8328	0.78769	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FMN1	30853848	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.197000	0.65141	2.710000	0.92621	0.650000	0.86243	.		0.388	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	Intron	G	33066556	C	G	33066556	5	3	356	1	0	0	0	0	0	0	1	0	5949	927	32	3	48	3	FMN1	15	33066556	Splice_Site	SNP	C	TCGA-29-2427-01A-01W-0799-08		33066556	69464836	42	19504											
SPATA5L1	79029	broad.mit.edu	37	15	45713252	45713252	+	Silent	SNP	G	G	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr15:45713252G>T	ENST00000305560.6	+	8	2205	c.2106G>T	c.(2104-2106)ctG>ctT	p.L702L	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	702						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L702L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGCTTTGCTGGCTCTGCAAG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	15											55	56	56					15																	45713252		2198	4298	6496	43500544	SO:0001819	synonymous_variant	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2106G>T	15.37:g.45713252G>T			43500544	C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	G	7.738	0.700731	0.15172	.	.	ENSG00000171763	ENST00000531624	.	.	.	5.6	2.58	0.30949	.	.	.	.	.	T	0.58352	0.2116	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50750	-0.8791	4	.	.	.	-18.1386	9.3252	0.37988	0.0:0.1332:0.4592:0.4076	.	.	.	.	L	207	.	.	W	+	2	0	SPATA5L1	43500544	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.165000	0.31822	0.262000	0.21774	0.561000	0.74099	TGG		0.398	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		T	45713252	G	T	45713252	2	4	356	1	0	0	0	0	0	0	0	1	15014	1335	47	3		3	SPATA5L1	15	45713252	Silent	SNP	G	TCGA-29-2427-01A-01W-0799-08	12646696	45713252	56818140	43	19505											
KIAA0174	9798	broad.mit.edu	37	16	71954710	71954710	+	Silent	SNP	A	A	G			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr16:71954710A>G	ENST00000378799.6	+	5	782	c.426A>G	c.(424-426)ggA>ggG	p.G142G	IST1_ENST00000538565.1_Intron|IST1_ENST00000544564.1_Silent_p.G142G|IST1_ENST00000535424.1_Silent_p.G155G|IST1_ENST00000329908.8_Silent_p.G142G|IST1_ENST00000538850.1_5'UTR|IST1_ENST00000378798.5_Silent_p.G142G|IST1_ENST00000541571.2_Silent_p.G142G|IST1_ENST00000606369.1_Intron|RP11-498D10.5_ENST00000567146.1_RNA			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	142	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.G142G(1)									ACCAGATTGGAACTGTGAATG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	16											172	141	151					16																	71954710		2198	4300	6498	70512211	SO:0001819	synonymous_variant	9798			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.426A>G	16.37:g.71954710A>G			70512211	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	A	9.466	1.094411	0.20471	.	.	ENSG00000182149	ENST00000541848	.	.	.	5.76	2.13	0.27403	.	.	.	.	.	T	0.53802	0.1819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40646	-0.9552	4	.	.	.	-14.5355	5.9604	0.19297	0.4266:0.3802:0.1932:0.0	.	.	.	.	G	29	.	.	E	+	2	0	KIAA0174	70512211	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.505000	0.22642	0.085000	0.17107	0.528000	0.53228	GAA		0.418	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		G	71954710	A	G	71954710	2	3	356	1	0	0	0	0	0	0	0	1	8158	233	9	4		4	KIAA0174	16	71954710	Silent	SNP	A	TCGA-29-2427-01A-01W-0799-08		71954710	18400043	44	19506											
TRPV1	7442	broad.mit.edu	37	17	3493627	3493627	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr17:3493627C>T	ENST00000571088.1	-	5	877	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	TRPV1_ENST00000425167.2_Missense_Mutation_p.V222M|TRPV1_ENST00000399759.3_Missense_Mutation_p.V222M|TRPV1_ENST00000310522.5_Missense_Mutation_p.V222M|TRPV1_ENST00000174621.6_Missense_Mutation_p.V220M|SHPK_ENST00000572705.1_Missense_Mutation_p.V222M|TRPV1_ENST00000576351.1_Missense_Mutation_p.V222M|TRPV1_ENST00000399756.4_Missense_Mutation_p.V222M	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	222					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.V222M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCGTTCTCCACCAGGAGGGTC	0.602																																					Melanoma(38;962 1762 15789)											1	Substitution - Missense(1)	ovary(1)	17											73	78	76					17																	3493627		2140	4249	6389	3440376	SO:0001583	missense	7442			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.664G>A	17.37:g.3493627C>T	ENSP00000461007:p.Val222Met		3440376	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164202	0.57476	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.67171	-0.18;-0.18;-0.18;-0.25;-0.25	5.29	4.3	0.51218	Ankyrin repeat-containing domain (4);	0.113521	0.64402	D	0.000013	T	0.74786	0.3762	L	0.44542	1.39	0.45607	D	0.998548	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.995;0.987	T	0.77051	-0.2731	10	0.87932	D	0	-13.8015	12.4794	0.55833	0.3043:0.6957:0.0:0.0	.	222;220;222;222	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	M	222;222;220;222;222	ENSP00000382661:V222M;ENSP00000382659:V222M;ENSP00000174621:V220M;ENSP00000409627:V222M;ENSP00000311692:V222M	ENSP00000174621:V220M	V	-	1	0	TRPV1	3440376	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	2.016000	0.40971	1.342000	0.45619	-0.293000	0.09583	GTG		0.602	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		T	3493627	C	T	3493627	3	4	356	1	0	0	0	0	1	0	0	0	16595	507	18	2	1576	2	TRPV1	17	3493627	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08		3493627	77701583	45	19507											
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr17:7577550C>T	ENST00000269305.4	-	7	920	c.731G>A	c.(730-732)gGc>gAc	p.G244D	TP53_ENST00000420246.2_Missense_Mutation_p.G244D|TP53_ENST00000455263.2_Missense_Mutation_p.G244D|TP53_ENST00000359597.4_Missense_Mutation_p.G244D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G244D|TP53_ENST00000445888.2_Missense_Mutation_p.G244D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(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)	GTTCATGCCGCCCATGCAGGA	0.577		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"	104	Substitution - Missense(75)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(4)|Deletion - Frameshift(4)|Deletion - In frame(3)	large_intestine(21)|liver(16)|haematopoietic_and_lymphoid_tissue(9)|ovary(9)|stomach(7)|breast(7)|lung(7)|biliary_tract(6)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|central_nervous_system(3)|oesophagus(2)|cervix(1)|vulva(1)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM056069|CM070298	TP53	M	rs28934572						148	111	124					17																	7577550		2203	4300	6503	7518275	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.731G>A	17.37:g.7577550C>T	ENSP00000269305:p.Gly244Asp		7518275	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842901	0.91197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934572	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244D;ENSP00000352610:G244D;ENSP00000269305:G244D;ENSP00000398846:G244D;ENSP00000391127:G244D;ENSP00000391478:G244D;ENSP00000425104:G112D;ENSP00000423862:G151D	ENSP00000269305:G244D	G	-	2	0	TP53	7518275	1.000000	0.71417	0.965000	0.40720	0.979000	0.70002	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577550	C	T	7577550	3	4	356	1	0	0	0	0	1	0	0	0	16381	739	26	2	559	2	TP53	17	7577550	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	4083923	7577550	73617660	46	19508											
LLGL1	3996	broad.mit.edu	37	17	18138572	18138572	+	Silent	SNP	C	C	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr17:18138572C>A	ENST00000316843.4	+	10	1326	c.1230C>A	c.(1228-1230)gcC>gcA	p.A410A		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	410					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.A410A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGCTGTGGGCCCGCATTGTGA	0.667																																																1	Substitution - coding silent(1)	ovary(1)	17											18	19	19					17																	18138572		2197	4290	6487	18079297	SO:0001819	synonymous_variant	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1230C>A	17.37:g.18138572C>A			18079297	A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	CCDS32586.1																																																																																				0.667	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			A	18138572	C	A	18138572	2	1	356	1	0	0	0	0	0	0	0	1	8833	610	22	3		3	LLGL1	17	18138572	Silent	SNP	C	TCGA-29-2427-01A-01W-0799-08	10561022	18138572	63056638	47	19509											
BRCA1	672	broad.mit.edu	37	17	41246256	41246256	+	Nonsense_Mutation	SNP	A	A	C	rs398122629|rs80357346		TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr17:41246256A>C	ENST00000357654.3	-	10	1410	c.1292T>G	c.(1291-1293)tTa>tGa	p.L431*	BRCA1_ENST00000471181.2_Nonsense_Mutation_p.L431*|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.L431*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.L135*|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.L384*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.L431*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	431					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L431*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTGGCCAGTAAGTCTATTTT	0.368			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Nonsense(1)	ovary(1)	17	GRCh37	CM984068	BRCA1	M	rs80357346						77	77	77					17																	41246256		2203	4299	6502	38499782	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1292T>G	17.37:g.41246256A>C	ENSP00000350283:p.Leu431*		38499782	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.07|15.07	2.724801|2.724801	0.48833|0.48833	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123|ENST00000473961	.|.	.|.	.|.	4.57|4.57	3.49|3.49	0.39957|0.39957	.|.	0.428430|.	0.17534|.	N|.	0.170797|.	.|T	.|0.31918	.|0.0812	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35525	.|-0.9785	.|3	0.02654|.	T|.	1|.	.|.	2.8871|2.8871	0.05664|0.05664	0.6109:0.0:0.204:0.1851|0.6109:0.0:0.204:0.1851	.|.	.|.	.|.	.|.	X|D	431;431;431;431;135;431;384;431;405;135;431|297	.|.	ENSP00000310938:L135X|.	L|Y	-|-	2|1	0|0	BRCA1|BRCA1	38499782|38499782	0.010000|0.010000	0.17322|0.17322	0.490000|0.490000	0.27465|0.27465	0.634000|0.634000	0.38068|0.38068	1.332000|1.332000	0.33805|0.33805	0.887000|0.887000	0.36136|0.36136	0.460000|0.460000	0.39030|0.39030	TTA|TAC		0.368	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		C	41246256	A	C	41246256	4	2	356	1	0	0	0	0	0	1	0	0	1498	372	13	5	4425	5	BRCA1	17	41246256	Nonsense_Mutation	SNP	A	TCGA-29-2427-01A-01W-0799-08	23107684	41246256	39948954	48	19510											
ZNF573	126231	broad.mit.edu	37	19	38230880	38230881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	-	-	G	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr19:38230880_38230881insG	ENST00000590414.2	-	4	531_532	c.510_511insC	c.(508-513)aactttfs	p.F171fs	ZNF573_ENST00000357309.3_Frame_Shift_Ins_p.F83fs|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000536220.1_Frame_Shift_Ins_p.F83fs|ZNF573_ENST00000392138.1_Frame_Shift_Ins_p.F84fs|ZNF573_ENST00000339503.4_Frame_Shift_Ins_p.F113fs			Q86YE8	ZN573_HUMAN	zinc finger protein 573	171					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.F113fs*3(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCACTACGAAAGTTCTTCCCAC	0.366																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								42922721	SO:0001589	frameshift_variant	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.511dupC	19.37:g.38230881_38230881dupG	ENSP00000465020:p.Phe171fs		42922720	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Frame_Shift_Ins	INS	ENST00000590414.2	37	CCDS59381.1																																																																																				0.366	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		G	38230881	-	G	38230880	7	5	356	1	0	1	1	0	0	0	0	0	18005	72	3	0	1490	0	ZNF573	19	38230880	Frame_Shift_Ins	INS	-	TCGA-29-2427-01A-01W-0799-08		38230880	20898103	49	19511											
CACNG6	59285	broad.mit.edu	37	19	54501503	54501503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr19:54501503C>A	ENST00000252729.2	+	2	932	c.342C>A	c.(340-342)tgC>tgA	p.C114*	CACNG6_ENST00000346968.2_Nonsense_Mutation_p.C114*|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	114					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.C114*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAGCAAACTGCACCTATTTTA	0.517																																																1	Substitution - Nonsense(1)	ovary(1)	19											115	96	103					19																	54501503		2203	4300	6503	59193315	SO:0001587	stop_gained	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.342C>A	19.37:g.54501503C>A	ENSP00000252729:p.Cys114*		59193315		Nonsense_Mutation	SNP	ENST00000252729.2	37	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	.	42	9.371216	0.99151	.	.	ENSG00000130433	ENST00000252729;ENST00000346968	.	.	.	5.36	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1534	7.6915	0.28571	0.0:0.7355:0.0:0.2645	.	.	.	.	X	114	.	ENSP00000252729:C114X	C	+	3	2	CACNG6	59193315	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.940000	0.28992	0.356000	0.24157	-0.136000	0.14681	TGC		0.517	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			A	54501503	C	A	54501503	4	1	356	1	0	0	0	0	0	1	0	0	2561	718	25	3	348	3	CACNG6	19	54501503	Nonsense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	16270623	54501503	4627480	50	19512											
UBOX5	22888	broad.mit.edu	37	20	3102634	3102634	+	Silent	SNP	C	C	T	rs200804274		TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr20:3102634C>T	ENST00000217173.2	-	3	1122	c.651G>A	c.(649-651)ctG>ctA	p.L217L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Silent_p.L217L	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.L217L(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CATCCTGAGGCAGGTTCTCTG	0.602																																																1	Substitution - coding silent(1)	ovary(1)	20											48	43	45					20																	3102634		2203	4300	6503	3050634	SO:0001819	synonymous_variant	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.651G>A	20.37:g.3102634C>T			3050634		Silent	SNP	ENST00000217173.2	37	CCDS13046.1																																																																																				0.602	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		T	3102634	C	T	3102634	2	4	356	1	0	0	0	0	0	0	0	1	16894	697	25	2		2	UBOX5	20	3102634	Silent	SNP	C	TCGA-29-2427-01A-01W-0799-08		3102634	59922886	51	19513											
ZNFX1	57169	broad.mit.edu	37	20	47865203	47865203	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr20:47865203A>C	ENST00000396105.1	-	14	4604	c.4358T>G	c.(4357-4359)tTc>tGc	p.F1453C	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.F1453C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1453							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F1453C(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACGCCCTTCGAAGCAGCTGTG	0.577																																																2	Substitution - Missense(2)	ovary(2)	20											46	45	46					20																	47865203		2203	4300	6503	47298610	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4358T>G	20.37:g.47865203A>C	ENSP00000379412:p.Phe1453Cys		47298610	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	A	6.499	0.460269	0.12342	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.56611	0.45;0.45	6.07	0.812	0.18744	.	0.235140	0.42964	D	0.000627	T	0.35885	0.0947	L	0.47716	1.5	0.19300	N	0.999973	B	0.09022	0.002	B	0.10450	0.005	T	0.14420	-1.0473	10	0.37606	T	0.19	-8.8831	1.1312	0.01746	0.4726:0.1247:0.1325:0.2701	.	1453	Q9P2E3	ZNFX1_HUMAN	C	1453	ENSP00000360817:F1453C;ENSP00000379412:F1453C	ENSP00000360817:F1453C	F	-	2	0	ZNFX1	47298610	0.049000	0.20398	0.494000	0.27515	0.898000	0.52572	0.519000	0.22862	0.475000	0.27415	0.533000	0.62120	TTC		0.577	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		C	47865203	A	C	47865203	3	2	356	1	0	0	0	0	1	0	0	0	18205	246	9	5	1402	5	ZNFX1	20	47865203	Missense_Mutation	SNP	A	TCGA-29-2427-01A-01W-0799-08	44762569	47865203	15160317	52	19514											
ZNF70	7621	broad.mit.edu	37	22	24086478	24086478	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr22:24086478G>C	ENST00000341976.3	-	2	1310	c.850C>G	c.(850-852)Ctc>Gtc	p.L284V		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L284V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTCCCACAGAGATCGCACTCG	0.517																																																1	Substitution - Missense(1)	ovary(1)	22											85	79	81					22																	24086478		2203	4300	6503	22416478	SO:0001583	missense	7621			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.850C>G	22.37:g.24086478G>C	ENSP00000339314:p.Leu284Val		22416478		Missense_Mutation	SNP	ENST00000341976.3	37	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	G	8.958	0.969899	0.18659	.	.	ENSG00000187792	ENST00000341976	T	0.05855	3.38	3.34	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	N	0.10685	0.025	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.40365	-0.9567	9	0.46703	T	0.11	-24.3909	6.037	0.19712	0.0:0.2126:0.5688:0.2185	.	284	Q9UC06	ZNF70_HUMAN	V	284	ENSP00000339314:L284V	ENSP00000339314:L284V	L	-	1	0	ZNF70	22416478	0.000000	0.05858	0.663000	0.29738	0.908000	0.53690	0.058000	0.14301	0.930000	0.37217	0.456000	0.33151	CTC		0.517	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		C	24086478	G	C	24086478	3	2	356	1	0	0	0	0	1	0	0	0	18103	942	33	3	494	3	ZNF70	22	24086478	Missense_Mutation	SNP	G	TCGA-29-2427-01A-01W-0799-08		24086478	27218088	53	19515											
EWSR1	2130	broad.mit.edu	37	22	29692304	29692304	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chr22:29692304A>G	ENST00000397938.2	+	12	1559	c.1240A>G	c.(1240-1242)Aca>Gca	p.T414A	EWSR1_ENST00000406548.1_Missense_Mutation_p.T413A|EWSR1_ENST00000331029.7_Missense_Mutation_p.T376A|EWSR1_ENST00000414183.2_Missense_Mutation_p.T419A|EWSR1_ENST00000332035.6_Missense_Mutation_p.T358A|EWSR1_ENST00000332050.6_Missense_Mutation_p.T341A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	414	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T414A(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGCGATGCCACAGTGTCCTA	0.478			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	1	Substitution - Missense(1)	ovary(1)	22											115	91	99					22																	29692304		2203	4300	6503	28022304	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1240A>G	22.37:g.29692304A>G	ENSP00000381031:p.Thr414Ala		28022304	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.033498|4.033498	0.75504|0.75504	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|T;T;T;T;T;T	.|0.74209	.|1.31;-0.82;-0.82;-0.82;-0.82;-0.82	5.48|5.48	4.44|4.44	0.53790|0.53790	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.81659|0.81659	0.4869|0.4869	M|M	0.71581|0.71581	2.175|2.175	0.54753|0.54753	D|D	0.999985|0.999985	.|B;B;B;B;B	.|0.28584	.|0.106;0.216;0.106;0.165;0.053	.|B;P;B;B;P	.|0.47346	.|0.414;0.544;0.414;0.255;0.462	T|T	0.80848|0.80848	-0.1199|-0.1199	5|10	.|0.72032	.|D	.|0.01	.|.	11.7703|11.7703	0.51953|0.51953	0.868:0.0:0.0:0.132|0.868:0.0:0.0:0.132	.|.	.|358;413;358;419;414	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	R|A	69|341;414;413;376;419;358	.|ENSP00000330896:T341A;ENSP00000381031:T414A;ENSP00000385726:T413A;ENSP00000330516:T376A;ENSP00000400142:T419A;ENSP00000331699:T358A	.|ENSP00000330516:T376A	H|T	+|+	2|1	0|0	EWSR1|EWSR1	28022304|28022304	1.000000|1.000000	0.71417|0.71417	0.559000|0.559000	0.28332|0.28332	0.964000|0.964000	0.63967|0.63967	8.930000|8.930000	0.92872|0.92872	0.878000|0.878000	0.35920|0.35920	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.478	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		G	29692304	A	G	29692304	3	3	356	1	0	0	0	0	1	0	0	0	5296	159	6	4	1403	4	EWSR1	22	29692304	Missense_Mutation	SNP	A	TCGA-29-2427-01A-01W-0799-08	5605826	29692304	21612262	54	19516											
ACRC	93953	broad.mit.edu	37	X	70824340	70824340	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chrX:70824340C>G	ENST00000373695.1	+	7	1750	c.1213C>G	c.(1213-1215)Cct>Gct	p.P405A	ACRC_ENST00000373696.3_Missense_Mutation_p.P405A			Q96QF7	ACRC_HUMAN	acidic repeat containing	405						nucleus (GO:0005634)		p.P405A(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGAGCCTGCACCTGTGGTGGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	X											45	32	36					X																	70824340		2203	4300	6503	70741065	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1213C>G	X.37:g.70824340C>G	ENSP00000362799:p.Pro405Ala		70741065	B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	8.218	0.801900	0.16397	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.51071	0.72;0.72	3.5	-2.84	0.05751	.	.	.	.	.	T	0.26159	0.0638	L	0.27053	0.805	0.09310	N	1	P	0.38504	0.634	B	0.33121	0.158	T	0.09907	-1.0653	9	0.46703	T	0.11	.	4.4776	0.11752	0.1732:0.2198:0.0:0.607	.	405	Q96QF7	ACRC_HUMAN	A	405	ENSP00000362800:P405A;ENSP00000362799:P405A	ENSP00000362799:P405A	P	+	1	0	ACRC	70741065	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.580000	0.02121	-0.817000	0.04335	-1.325000	0.01285	CCT		0.478	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			G	70824340	C	G	70824340	3	3	356	1	0	0	0	0	1	0	0	0	171	507	18	3	1239	3	ACRC	23	70824340	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08		70824340	84446220	55	19517											
AIFM1	9131	broad.mit.edu	37	X	129263595	129263595	+	Missense_Mutation	SNP	C	C	G	rs200543681		TCGA-29-2427-01A-01W-0799-08	TCGA-29-2427-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fd5c41d1-cc9b-41ca-b73e-2e7fb629e7ae	d784a171-76b3-45df-a8d5-827a1dd9bdf5	g.chrX:129263595C>G	ENST00000287295.3	-	16	2009	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	AIFM1_ENST00000440263.1_Missense_Mutation_p.K241N|AIFM1_ENST00000346424.2_Missense_Mutation_p.K306N|AIFM1_ENST00000460436.2_Missense_Mutation_p.K254N|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.K589N	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	593					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.K589N(1)|p.K593N(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GCTCACCGTCCTTAATGATCT	0.502																																																2	Substitution - Missense(2)	ovary(2)	X											183	150	161					X																	129263595		2203	4300	6503	129091276	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1779G>C	X.37:g.129263595C>G	ENSP00000287295:p.Lys593Asn		129091276	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	c	10.66	1.413511	0.25465	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.83335	0.92;0.92;-1.71;0.92;-0.71	5.01	3.18	0.36537	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	L	0.45051	1.395	0.80722	D	1	B;P;P	0.38617	0.209;0.64;0.508	B;B;B	0.29663	0.023;0.105;0.049	T	0.65656	-0.6115	10	0.29301	T	0.29	-13.712	8.0493	0.30568	0.0:0.6554:0.0:0.3446	.	306;589;593	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	N	254;306;589;241;593	ENSP00000431222:K254N;ENSP00000316320:K306N;ENSP00000315122:K589N;ENSP00000405879:K241N;ENSP00000287295:K593N	ENSP00000287295:K593N	K	-	3	2	AIFM1	129091276	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.540000	0.23191	1.079000	0.41038	0.591000	0.81541	AAG		0.502	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			G	129263595	C	G	129263595	3	3	356	1	0	0	0	0	1	0	0	0	426	680	24	3	66	3	AIFM1	23	129263595	Missense_Mutation	SNP	C	TCGA-29-2427-01A-01W-0799-08	58439255	129263595	26006965	56	19518											
ATP13A2	23400	genome.wustl.edu	37	1	17326759	17326759	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:17326759C>A	ENST00000326735.8	-	10	922	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	ATP13A2_ENST00000341676.5_Missense_Mutation_p.V292L|ATP13A2_ENST00000452699.1_Missense_Mutation_p.V292L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR			Q9NQ11	AT132_HUMAN	ATPase type 13A2	297					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCCGGCACACGCACACCCGC	0.706																																																0			1																																								17199346	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.889G>T	1.37:g.17326759C>A	ENSP00000327214:p.Val297Leu		17199346	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.967788|3.967788	0.74131|0.74131	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000510069|ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	.|D;D;D;D	.|0.90504	.|-2.68;-2.68;-2.68;-2.68	4.82|4.82	4.82|4.82	0.62117|0.62117	.|ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	.|0.066312	.|0.64402	.|D	.|0.000010	D|D	0.94082|0.94082	0.8103|0.8103	M|M	0.76433|0.76433	2.335|2.335	0.58432|0.58432	D|D	0.99999|0.99999	.|P;P;D;B;P	.|0.55385	.|0.793;0.785;0.971;0.197;0.784	.|B;P;D;B;P	.|0.64687	.|0.405;0.701;0.928;0.075;0.591	D|D	0.94317|0.94317	0.7550|0.7550	5|10	.|0.66056	.|D	.|0.02	-25.229|-25.229	12.7123|12.7123	0.57096|0.57096	0.0:0.8341:0.1659:0.0|0.0:0.8341:0.1659:0.0	.|.	.|10;10;292;292;297	.|Q52PK6;Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.|.;.;.;.;AT132_HUMAN	L|L	271|297;292;292;17	.|ENSP00000327214:V297L;ENSP00000341115:V292L;ENSP00000413307:V292L;ENSP00000424393:V17L	.|ENSP00000327214:V297L	R|V	-|-	2|1	0|0	ATP13A2|ATP13A2	17199346|17199346	0.999000|0.999000	0.42202|0.42202	0.969000|0.969000	0.41365|0.41365	0.828000|0.828000	0.46876|0.46876	4.584000|4.584000	0.60971|0.60971	2.374000|2.374000	0.81015|0.81015	0.585000|0.585000	0.79938|0.79938	CGT|GTG		0.706	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		A	17326759	C	A	17326759	3	1	357	1	0	0	0	0	1	0	0	0	1124	536	19	3	2969	3	ATP13A2	1	17326759	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09		17326759	231923862	1	19519											
BSDC1	55108	genome.wustl.edu	37	1	32841929	32841929	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:32841929C>G	ENST00000455895.2	-	9	1123	c.1090G>C	c.(1090-1092)Gac>Cac	p.D364H	BSDC1_ENST00000446293.2_Missense_Mutation_p.D381H|BSDC1_ENST00000413080.1_Missense_Mutation_p.D303H|BSDC1_ENST00000341071.7_Missense_Mutation_p.D381H|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000449308.1_Missense_Mutation_p.D364H|BSDC1_ENST00000419121.2_Missense_Mutation_p.D308H|BSDC1_ENST00000526031.1_Missense_Mutation_p.D269H	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	364										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCCGTAAGTCTGTGGGCGCC	0.592																																																0			1											85	92	90					1																	32841929		2203	4300	6503	32614516	SO:0001583	missense	55108			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1090G>C	1.37:g.32841929C>G	ENSP00000412173:p.Asp364His		32614516	B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	CCDS363.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488400	0.84854	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.994;0.996;0.986	T	0.80027	-0.1554	9	0.87932	D	0	-20.9163	17.2978	0.87173	0.0:1.0:0.0:0.0	.	269;308;381;381;364	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	H	364;303;381;269;308;381;364	.	ENSP00000344816:D381H	D	-	1	0	BSDC1	32614516	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.720000	0.84759	2.487000	0.83934	0.462000	0.41574	GAC		0.592	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		G	32841929	C	G	32841929	3	3	357	1	0	0	0	0	1	0	0	0	1528	913	32	3	214	3	BSDC1	1	32841929	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	15515170	32841929	216408692	2	19520											
HIVEP3	59269	genome.wustl.edu	37	1	42048869	42048869	+	Missense_Mutation	SNP	G	G	T	rs150413814	byFrequency	TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:42048869G>T	ENST00000372583.1	-	4	2485	c.1600C>A	c.(1600-1602)Cct>Act	p.P534T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P534T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P534T|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P534T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGAGGCACAGGGGGGGCGGTA	0.592																																																0			1											44	56	52					1																	42048869		2203	4299	6502	41821456	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1600C>A	1.37:g.42048869G>T	ENSP00000361664:p.Pro534Thr		41821456	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902716	0.17760	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.76	4.76	0.60689	.	0.000000	0.51477	D	0.000082	T	0.13030	0.0316	N	0.15975	0.35	0.36541	D	0.87128	B;B	0.33022	0.394;0.274	B;B	0.30782	0.12;0.056	T	0.19353	-1.0308	10	0.12766	T	0.61	-10.603	10.7822	0.46384	0.0:0.0:0.6826:0.3174	.	534;534	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	534	ENSP00000361665:P534T;ENSP00000361664:P534T;ENSP00000247584:P534T;ENSP00000410828:P534T	ENSP00000247584:P534T	P	-	1	0	HIVEP3	41821456	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.086000	0.50159	2.478000	0.83669	0.561000	0.74099	CCT		0.592	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	42048869	G	T	42048869	3	4	357	1	0	0	0	0	1	0	0	0	7188	1232	43	3	5644	3	HIVEP3	1	42048869	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	9206940	42048869	207201752	3	19521											
LPAR3	23566	genome.wustl.edu	37	1	85331490	85331490	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:85331490C>T	ENST00000440886.1	-	1	352	c.314G>A	c.(313-315)cGt>cAt	p.R105H	LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	105					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGCCCCTGACGGAGAAACCA	0.502																																																0			1											159	167	164					1																	85331490		2203	4300	6503	85104078	SO:0001583	missense	23566			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.314G>A	1.37:g.85331490C>T	ENSP00000395389:p.Arg105His		85104078	A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634027	0.87660	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37058	1.22;1.22	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66842	-0.5821	10	0.72032	D	0.01	.	19.7225	0.96148	0.0:1.0:0.0:0.0	.	105	Q9UBY5	LPAR3_HUMAN	H	105	ENSP00000395389:R105H;ENSP00000359643:R105H	ENSP00000359643:R105H	R	-	2	0	LPAR3	85104078	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.792000	0.85828	2.674000	0.91012	0.655000	0.94253	CGT		0.502	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		T	85331490	C	T	85331490	3	4	357	1	0	0	0	0	1	0	0	0	8906	536	19	1	755	1	LPAR3	1	85331490	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	43282621	85331490	163919131	4	19522											
HS2ST1	9653	genome.wustl.edu	37	1	87558290	87558290	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:87558290T>G	ENST00000370550.5	+	4	889	c.526T>G	c.(526-528)Ttt>Gtt	p.F176V	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.F150V|HS2ST1_ENST00000356813.4_Missense_Mutation_p.F150V|HS2ST1_ENST00000370551.4_Missense_Mutation_p.F176V	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TTATTATTACTTTCTGAGATT	0.299																																																0			1											80	88	85					1																	87558290		2202	4293	6495	87330878	SO:0001583	missense	9653			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"Sulfotransferases, membrane-bound"	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.526T>G	1.37:g.87558290T>G	ENSP00000359581:p.Phe176Val		87330878	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	CCDS711.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918117	0.92249	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.87136	0.6102	M	0.92923	3.36	0.80722	D	1	D;D	0.61697	0.99;0.986	D;P	0.67900	0.954;0.872	D	0.90387	0.4392	10	0.87932	D	0	-17.7404	15.9212	0.79575	0.0:0.0:0.0:1.0	.	176;150	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	V	176;176;150;150	ENSP00000359582:F176V;ENSP00000359581:F176V;ENSP00000359579:F150V;ENSP00000349268:F150V	ENSP00000349268:F150V	F	+	1	0	HS2ST1	87330878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.988000	0.88194	2.224000	0.72417	0.528000	0.53228	TTT		0.299	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		G	87558290	T	G	87558290	3	3	357	1	0	0	0	0	1	0	0	0	7362	1609	56	5	540	5	HS2ST1	1	87558290	Missense_Mutation	SNP	T	TCGA-29-2429-01A-01D-1526-09	2226800	87558290	161692331	5	19523											
POGZ	23126	genome.wustl.edu	37	1	151403146	151403146	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:151403146G>C	ENST00000271715.2	-	4	769	c.455C>G	c.(454-456)aCg>aGg	p.T152R	POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000531094.1_Missense_Mutation_p.T99R|POGZ_ENST00000392723.1_Missense_Mutation_p.T99R|POGZ_ENST00000368863.2_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.T152R|POGZ_ENST00000491586.1_Missense_Mutation_p.T99R|POGZ_ENST00000361398.3_Missense_Mutation_p.T99R	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	152					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCACCTGCGTAGTGATAAA	0.448																																																0			1											214	219	218					1																	151403146		2203	4300	6503	149669770	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.455C>G	1.37:g.151403146G>C	ENSP00000271715:p.Thr152Arg		149669770	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308075	0.81247	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	T;T;T;T;T;T	0.01279	5.54;5.56;5.54;5.53;5.57;5.06	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.02267	0.0070	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D	0.76494	0.98;0.966;0.992;0.98;0.999;0.98	P;P;P;P;D;P	0.79784	0.477;0.519;0.835;0.527;0.993;0.67	T	0.68685	-0.5343	10	0.87932	D	0	-11.849	17.5046	0.87741	0.0:0.0:1.0:0.0	.	99;152;152;99;99;152	E9PM80;B7ZBY5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	R	99;152;99;152;99;99;152	ENSP00000376484:T99R;ENSP00000271715:T152R;ENSP00000354467:T99R;ENSP00000386836:T152R;ENSP00000431259:T99R;ENSP00000418408:T99R	ENSP00000271715:T152R	T	-	2	0	POGZ	149669770	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	6.185000	0.72013	2.708000	0.92522	0.585000	0.79938	ACG		0.448	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		C	151403146	G	C	151403146	3	2	357	1	0	0	0	0	1	0	0	0	12186	1145	40	3	3855	3	POGZ	1	151403146	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	63844856	151403146	97847475	6	19524											
LINGO4	339398	genome.wustl.edu	37	1	151773709	151773709	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:151773709C>G	ENST00000368820.3	-	2	2409	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	491	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGTCATTCCCAGCGACATT	0.587																																																0			1											186	181	183					1																	151773709		2203	4300	6503	150040333	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1472G>C	1.37:g.151773709C>G	ENSP00000357810:p.Gly491Ala		150040333		Missense_Mutation	SNP	ENST00000368820.3	37	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934224	0.73442	.	.	ENSG00000213171	ENST00000368820	T	0.74632	-0.86	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000102	D	0.87116	0.6097	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88461	0.3055	10	0.87932	D	0	.	17.0075	0.86397	0.0:1.0:0.0:0.0	.	491	Q6UY18	LIGO4_HUMAN	A	491	ENSP00000357810:G491A	ENSP00000357810:G491A	G	-	2	0	LINGO4	150040333	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.651000	0.83577	2.879000	0.98667	0.650000	0.86243	GGG		0.587	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		G	151773709	C	G	151773709	3	3	357	1	0	0	0	0	1	0	0	0	8817	623	22	3	313	3	LINGO4	1	151773709	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	370563	151773709	97476912	7	19525											
RHBG	57127	genome.wustl.edu	37	1	156347189	156347189	+	Silent	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:156347189C>T	ENST00000368249.1	+	2	323	c.285C>T	c.(283-285)ctC>ctT	p.L95L	RHBG_ENST00000255013.3_Silent_p.L26L|RHBG_ENST00000451864.2_Silent_p.L26L|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000400992.2_Silent_p.L26L|RHBG_ENST00000368246.2_Silent_p.L95L	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	95					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.L95L(2)|p.L26L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCACCTTCCTCCTGGCCGCCT	0.622																																																3	Substitution - coding silent(3)	lung(3)	1											116	120	119					1																	156347189		2201	4300	6501	154613813	SO:0001819	synonymous_variant	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.285C>T	1.37:g.156347189C>T			154613813	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37																																																																																					0.622	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		T	156347189	C	T	156347189	2	4	357	1	0	0	0	0	0	0	0	1	13327	842	30	2		2	RHBG	1	156347189	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09	4573480	156347189	92903432	8	19526											
KIRREL	55243	genome.wustl.edu	37	1	158064749	158064749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:158064749C>T	ENST00000359209.6	+	15	2180	c.2113C>T	c.(2113-2115)Cga>Tga	p.R705*	KIRREL_ENST00000368173.3_Nonsense_Mutation_p.R721*|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.R541*|KIRREL_ENST00000368172.1_Nonsense_Mutation_p.R519*|KIRREL_ENST00000416935.2_Nonsense_Mutation_p.R605*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.R602*			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	705					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCCACCTACCGACTGGGCTA	0.612																																																0			1											36	38	37					1																	158064749		2203	4300	6503	156331373	SO:0001587	stop_gained	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2113C>T	1.37:g.158064749C>T	ENSP00000352138:p.Arg705*		156331373	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Nonsense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	43	10.098077	0.99336	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	.	.	.	5.0	4.02	0.46733	.	0.000000	0.36703	N	0.002447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3213	12.5348	0.56137	0.0:0.8308:0.1691:0.0	.	.	.	.	X	541;721;602;705;605;519	.	ENSP00000352138:R705X	R	+	1	2	KIRREL	156331373	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.459000	0.35234	2.319000	0.78375	0.561000	0.74099	CGA		0.612	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		T	158064749	C	T	158064749	4	4	357	1	0	0	0	0	0	1	0	0	8324	644	23	1	2171	1	KIRREL	1	158064749	Nonsense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	1717560	158064749	91185872	9	19527											
OR10K1	391109	genome.wustl.edu	37	1	158435980	158435980	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:158435980C>T	ENST00000289451.2	+	1	709	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTGGTCATTCCTCTGCTACTT	0.483																																																0			1											147	141	143					1																	158435980		2203	4300	6503	156702604	SO:0001583	missense	391109			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.629C>T	1.37:g.158435980C>T	ENSP00000289451:p.Pro210Leu		156702604	Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.796936	0.50208	.	.	ENSG00000173285	ENST00000289451	T	0.56103	0.48	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000670	T	0.68659	0.3025	M	0.83012	2.62	0.34802	D	0.73682	D	0.89917	1.0	D	0.97110	1.0	T	0.76302	-0.3009	10	0.87932	D	0	.	15.5475	0.76118	0.0:1.0:0.0:0.0	.	210	Q8NGX5	O10K1_HUMAN	L	210	ENSP00000289451:P210L	ENSP00000289451:P210L	P	+	2	0	OR10K1	156702604	0.050000	0.20438	0.253000	0.24343	0.257000	0.26127	2.251000	0.43187	2.160000	0.67779	0.557000	0.71058	CCT		0.483	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			T	158435980	C	T	158435980	3	4	357	1	0	0	0	0	1	0	0	0	10913	681	24	2	631	2	OR10K1	1	158435980	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	371231	158435980	90814641	10	19528											
OR10X1	128367	genome.wustl.edu	37	1	158549276	158549276	+	Silent	SNP	G	G	T	rs148984136		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr1:158549276G>T	ENST00000368150.1	-	1	413	c.414C>A	c.(412-414)cgC>cgA	p.R138R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGGCCAGGAAGCGGTCATATC	0.453																																																0			1											82	83	82					1																	158549276		2203	4300	6503	156815900	SO:0001819	synonymous_variant	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.414C>A	1.37:g.158549276G>T			156815900	Q6IFR8	Silent	SNP	ENST00000368150.1	37	CCDS30900.1																																																																																				0.453	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		T	158549276	G	T	158549276	2	4	357	1	0	0	0	0	0	0	0	1	10922	958	34	3		3	OR10X1	1	158549276	Silent	SNP	G	TCGA-29-2429-01A-01D-1526-09	113296	158549276	90701345	11	19529											
LHCGR	3973	genome.wustl.edu	37	2	48915091	48915091	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:48915091A>T	ENST00000294954.7	-	11	1866	c.1845T>A	c.(1843-1845)aaT>aaA	p.N615K	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.N588K|LHCGR_ENST00000344775.3_Missense_Mutation_p.N553K|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	615					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCACAAGAATTGATGGGAT	0.388																																																0			2											81	86	84					2																	48915091		2203	4300	6503	48768595	SO:0001583	missense	3973				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1845T>A	2.37:g.48915091A>T	ENSP00000294954:p.Asn615Lys		48768595	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506147	0.64410	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.94793	-3.52;-3.52;-3.52	5.92	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96132	0.9093	9	.	.	.	.	4.5472	0.12087	0.6008:0.0:0.3991:0.0	.	615	P22888	LSHR_HUMAN	K	553;615;588	ENSP00000344301:N553K;ENSP00000294954:N615K;ENSP00000386033:N588K	.	N	-	3	2	LHCGR	48768595	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.810000	0.47979	1.079000	0.41038	0.477000	0.44152	AAT		0.388	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		T	48915091	A	T	48915091	3	4	357	1	0	0	0	0	1	0	0	0	8762	98	4	5	258	5	LHCGR	2	48915091	Missense_Mutation	SNP	A	TCGA-29-2429-01A-01D-1526-09		48915091	194284282	12	19530											
SCN2A	6326	genome.wustl.edu	37	2	166243403	166243403	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:166243403A>G	ENST00000375437.2	+	26	4989	c.4699A>G	c.(4699-4701)Aat>Gat	p.N1567D	SCN2A_ENST00000357398.3_Missense_Mutation_p.N1567D|SCN2A_ENST00000375427.2_Missense_Mutation_p.N1567D|SCN2A_ENST00000283256.6_Missense_Mutation_p.N1567D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1567					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTACTGGATTAATCTGGTGTT	0.378																																																0			2											220	202	208					2																	166243403		2203	4300	6503	165951649	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4699A>G	2.37:g.166243403A>G	ENSP00000364586:p.Asn1567Asp		165951649	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796466	0.90453	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.17	5.17	0.71159	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97867	0.9299	M	0.77820	2.39	0.58432	D	0.999997	P;D	0.71674	0.913;0.998	P;D	0.87578	0.731;0.998	D	0.98574	1.0647	10	0.62326	D	0.03	.	15.0121	0.71557	1.0:0.0:0.0:0.0	.	1567;1567	Q99250-2;Q99250	.;SCN2A_HUMAN	D	1567	ENSP00000364586:N1567D;ENSP00000349973:N1567D;ENSP00000283256:N1567D;ENSP00000364576:N1567D	ENSP00000283256:N1567D	N	+	1	0	SCN2A	165951649	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	1.957000	0.56846	0.528000	0.53228	AAT		0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		G	166243403	A	G	166243403	3	3	357	1	0	0	0	0	1	0	0	0	13919	362	13	4	4893	4	SCN2A	2	166243403	Missense_Mutation	SNP	A	TCGA-29-2429-01A-01D-1526-09	117328312	166243403	76955970	13	19531											
SCN1A	6323	genome.wustl.edu	37	2	166897912	166897912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:166897912C>T	ENST00000303395.4	-	13	2243	c.2244G>A	c.(2242-2244)tgG>tgA	p.W748*	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.W737*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.W720*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.W748*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	748					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGAACAGTCCCAGATTAAGA	0.368																																																0			2											94	101	99					2																	166897912		2203	4300	6503	166606158	SO:0001587	stop_gained	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2244G>A	2.37:g.166897912C>T	ENSP00000303540:p.Trp748*		166606158	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	40	7.944415	0.98574	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8328	0.96642	0.0:1.0:0.0:0.0	.	.	.	.	X	748;748;737;720	.	ENSP00000303540:W748X	W	-	3	0	SCN1A	166606158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.051000	0.71072	2.758000	0.94735	0.591000	0.81541	TGG		0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166897912	C	T	166897912	4	4	357	1	0	0	0	0	0	1	0	0	13917	624	22	2	3841	2	SCN1A	2	166897912	Nonsense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	654509	166897912	76301461	14	19532											
TTN	7273	genome.wustl.edu	37	2	179629408	179629408	+	Silent	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr2:179629408C>A	ENST00000591111.1	-	42	10058	c.9834G>T	c.(9832-9834)ctG>ctT	p.L3278L	TTN_ENST00000359218.5_Silent_p.L3232L|TTN_ENST00000460472.2_Silent_p.L3232L|TTN_ENST00000360870.5_Silent_p.L3278L|TTN_ENST00000342175.6_Silent_p.L3232L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Silent_p.L3278L|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.L3278L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13605	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGGAAAGCAGCTGCTCTT	0.512																																																0			2											118	118	118					2																	179629408		2203	4300	6503	179337653	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9834G>T	2.37:g.179629408C>A			179337653	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179629408	C	A	179629408	2	1	357	1	0	0	0	0	0	0	0	1	16735	697	25	3		3	TTN	2	179629408	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09	12731496	179629408	63569965	15	19533											
SCN10A	6336	genome.wustl.edu	37	3	38793864	38793864	+	Missense_Mutation	SNP	C	C	T	rs147246725		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:38793864C>T	ENST00000449082.2	-	11	1600	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	534					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAGAGAGCCCCGATGGCTTTC	0.597													C|||	1	0.000199681	0	0	5008	,	,		18016	0		0	False		,,,				2504	0.001															0			3						C	GLN/ARG	0,4406		0,0,2203	61	66	64		1601	2.1	0	3	dbSNP_134	64	1,8599	2.2+/-6.3	0,1,4299	no	missense	SCN10A	NM_006514.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	534/1957	38793864	1,13005	2203	4300	6503	38768868	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1601G>A	3.37:g.38793864C>T	ENSP00000390600:p.Arg534Gln		38768868	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	9.836	1.189632	0.21954	0.0	1.16E-4	ENSG00000185313	ENST00000449082	D	0.96459	-4.02	4.87	2.08	0.27032	.	0.455677	0.21429	N	0.074697	D	0.92586	0.7645	L	0.46157	1.445	0.09310	N	1	B	0.24768	0.111	B	0.12837	0.008	D	0.85460	0.1166	10	0.51188	T	0.08	.	8.9237	0.35628	0.0:0.7651:0.0:0.2349	.	534	Q9Y5Y9	SCNAA_HUMAN	Q	534	ENSP00000390600:R534Q	ENSP00000390600:R534Q	R	-	2	0	SCN10A	38768868	0.000000	0.05858	0.015000	0.15790	0.100000	0.18952	0.781000	0.26774	0.341000	0.23771	0.462000	0.41574	CGG		0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38793864	C	T	38793864	3	4	357	1	0	0	0	0	1	0	0	0	13915	652	23	1	4337	1	SCN10A	3	38793864	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09		38793864	159228566	16	19534											
MAP4	4134	genome.wustl.edu	37	3	48040250	48040250	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:48040250A>C	ENST00000360240.6	-	2	619	c.101T>G	c.(100-102)tTt>tGt	p.F34C	MAP4_ENST00000383737.4_Missense_Mutation_p.F34C|MAP4_ENST00000426837.2_Missense_Mutation_p.F34C|MAP4_ENST00000439356.1_Missense_Mutation_p.F34C|MAP4_ENST00000434267.1_Missense_Mutation_p.F34C|MAP4_ENST00000395734.3_Missense_Mutation_p.F34C	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	34					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AACATCATCAAAGGCCTCTGC	0.463																																																0			3											199	184	189					3																	48040250		2203	4300	6503	48015254	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.101T>G	3.37:g.48040250A>C	ENSP00000353375:p.Phe34Cys		48015254	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.06|15.06	2.720479|2.720479	0.48728|0.48728	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000434267;ENST00000439356|ENST00000423088	T;T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38;1.38|.	4.56|4.56	-5.2|-5.2	0.02823|0.02823	.|.	.|.	.|.	.|.	.|.	T|T	0.62454|0.62454	0.2429|0.2429	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.973;0.996;0.995|.	P;P;P;P|.	0.59703|.	0.862;0.724;0.855;0.781|.	T|T	0.65611|0.65611	-0.6126|-0.6126	9|5	0.87932|.	D|.	0|.	-1.0438|-1.0438	12.0576|12.0576	0.53544|0.53544	0.1998:0.0:0.0:0.8002|0.1998:0.0:0.0:0.8002	.|.	34;34;34;34|.	C9JFC3;Q86V26;P27816-6;P27816|.	.;.;.;MAP4_HUMAN|.	C|V	34|41	ENSP00000373243:F34C;ENSP00000379083:F34C;ENSP00000407602:F34C;ENSP00000353375:F34C;ENSP00000402767:F34C;ENSP00000397414:F34C|.	ENSP00000353375:F34C|.	F|L	-|-	2|1	0|2	MAP4|MAP4	48015254|48015254	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.965000|0.965000	0.64279|0.64279	3.448000|3.448000	0.52943|0.52943	-0.457000|-0.457000	0.07033|0.07033	-0.691000|-0.691000	0.03719|0.03719	TTT|TTG		0.463	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		C	48040250	A	C	48040250	3	2	357	1	0	0	0	0	1	0	0	0	9258	14	1	5	4800	5	MAP4	3	48040250	Missense_Mutation	SNP	A	TCGA-29-2429-01A-01D-1526-09	9246386	48040250	149982180	17	19535											
CD96	10225	genome.wustl.edu	37	3	111368636	111368636	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:111368636G>A	ENST00000283285.5	+	15	1872	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	CD96_ENST00000352690.4_Missense_Mutation_p.E565K	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	581					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GCCTTATCATGAGATGGAGAC	0.463									Opitz Trigonocephaly syndrome																																							0			3											144	129	134					3																	111368636		2203	4300	6503	112851326	SO:0001583	missense	10225	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1741G>A	3.37:g.111368636G>A	ENSP00000283285:p.Glu581Lys		112851326	Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691180	0.88735	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.74421	-0.84;-0.84	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000037	T	0.79137	0.4395	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.994	T	0.81239	-0.1023	10	0.87932	D	0	-15.0207	15.2881	0.73846	0.0:0.0:1.0:0.0	.	564;565;581	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	K	565;581	ENSP00000342040:E565K;ENSP00000283285:E581K	ENSP00000283285:E581K	E	+	1	0	CD96	112851326	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.610000	0.54125	2.684000	0.91462	0.563000	0.77884	GAG		0.463	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			A	111368636	G	A	111368636	3	1	357	1	0	0	0	0	1	0	0	0	3048	1291	45	2	1799	2	CD96	3	111368636	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	63328386	111368636	86653794	18	19536											
FBXO40	51725	genome.wustl.edu	37	3	121341365	121341365	+	Silent	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:121341365T>C	ENST00000338040.4	+	3	1503	c.1089T>C	c.(1087-1089)ctT>ctC	p.L363L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	363					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGCTCGACTTGGAGATGCCA	0.473																																																0			3											108	100	102					3																	121341365		2203	4300	6503	122824055	SO:0001819	synonymous_variant	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1089T>C	3.37:g.121341365T>C			122824055	B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	CCDS33835.1																																																																																				0.473	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		C	121341365	T	C	121341365	2	2	357	1	0	0	0	0	0	0	0	1	5749	1799	63	4		4	FBXO40	3	121341365	Silent	SNP	T	TCGA-29-2429-01A-01D-1526-09	9972729	121341365	76681065	19	19537											
MBD4	8930	genome.wustl.edu	37	3	129155581	129155581	+	Silent	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:129155581C>G	ENST00000249910.1	-	3	1081	c.906G>C	c.(904-906)gtG>gtC	p.V302V	MBD4_ENST00000507208.1_Silent_p.V302V|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000429544.2_Silent_p.V302V|MBD4_ENST00000503197.1_Silent_p.V302V	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	302					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTCACTGGTCACACTGAGGG	0.373								Base excision repair (BER), DNA glycosylases																																								0			3											103	108	106					3																	129155581		2203	4300	6503	130638271	SO:0001819	synonymous_variant	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.906G>C	3.37:g.129155581C>G			130638271	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000249910.1	37	CCDS3058.1																																																																																				0.373	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		G	129155581	C	G	129155581	2	3	357	1	0	0	0	0	0	0	0	1	9346	813	29	3		3	MBD4	3	129155581	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09	7814216	129155581	68866849	20	19538											
EIF4G1	1981	genome.wustl.edu	37	3	184052592	184052592	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr3:184052592A>G	ENST00000346169.2	+	33	4967	c.4696A>G	c.(4696-4698)Agc>Ggc	p.S1566G	FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S1526G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S1573G|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S1566G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S1403G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S1527G|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S1479G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S1370G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S1402G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S1480G|FAM131A_ENST00000383847.2_5'Flank|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S1573G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S1573G|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S1567G|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S1371G|FAM131A_ENST00000340957.5_5'Flank|FAM131A_ENST00000450976.1_5'Flank	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1566	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGGGAGAGTAGCAAGGACCC	0.567																																																0			3											125	110	115					3																	184052592		2203	4300	6503	185535286	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4696A>G	3.37:g.184052592A>G	ENSP00000316879:p.Ser1566Gly		185535286	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617261	0.66672	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.15	4.15	0.48705	eIF4-gamma/eIF5/eIF2-epsilon (3);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89160	0.6636	M	0.81802	2.56	0.80722	D	1	P;P;P	0.45283	0.855;0.768;0.768	P;P;P	0.57324	0.818;0.705;0.705	D	0.90284	0.4317	10	0.66056	D	0.02	-7.1502	12.3358	0.55067	1.0:0.0:0.0:0.0	.	1573;1567;1566	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	G	1566;1526;1479;1573;1402;1573;1480;1567;1566;1573;1527;1403;1371;1370	ENSP00000316879:S1566G;ENSP00000391935:S1526G;ENSP00000376320:S1479G;ENSP00000371767:S1573G;ENSP00000317600:S1402G;ENSP00000338020:S1573G;ENSP00000407682:S1480G;ENSP00000343450:S1567G;ENSP00000323737:S1566G;ENSP00000416255:S1573G;ENSP00000395974:S1527G;ENSP00000399858:S1403G;ENSP00000411826:S1371G;ENSP00000404754:S1370G	ENSP00000323737:S1566G	S	+	1	0	EIF4G1	185535286	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.014000	0.93635	1.747000	0.51819	0.454000	0.30748	AGC		0.567	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		G	184052592	A	G	184052592	3	3	357	1	0	0	0	0	1	0	0	0	5036	420	15	4	4818	4	EIF4G1	3	184052592	Missense_Mutation	SNP	A	TCGA-29-2429-01A-01D-1526-09	54897011	184052592	13969838	21	19539											
RBM47	54502	genome.wustl.edu	37	4	40440207	40440207	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr4:40440207A>T	ENST00000381793.2	-	3	1100	c.704T>A	c.(703-705)aTc>aAc	p.I235N	RBM47_ENST00000381795.6_Missense_Mutation_p.I235N|RBM47_ENST00000319592.4_Missense_Mutation_p.I235N|RBM47_ENST00000514014.1_Missense_Mutation_p.I197N|RBM47_ENST00000295971.7_Missense_Mutation_p.I235N|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	235					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTCCACGTCGATCTCAGGTTC	0.637																																																0			4											108	88	95					4																	40440207		2203	4300	6503	40134964	SO:0001583	missense	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.704T>A	4.37:g.40440207A>T	ENSP00000371212:p.Ile235Asn		40134964	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.012289	0.35511	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.15487	2.46;2.42;2.46;2.42;2.43	5.58	5.58	0.84498	.	0.044163	0.85682	D	0.000000	T	0.12390	0.0301	N	0.02802	-0.49	0.80722	D	1	P;B	0.42375	0.778;0.003	P;B	0.48454	0.578;0.029	T	0.42241	-0.9463	10	0.23891	T	0.37	-23.0426	15.7506	0.77983	1.0:0.0:0.0:0.0	.	235;235	A0AV96-2;A0AV96	.;RBM47_HUMAN	N	235;235;235;235;197	ENSP00000320108:I235N;ENSP00000371212:I235N;ENSP00000371214:I235N;ENSP00000295971:I235N;ENSP00000423243:I197N	ENSP00000295971:I235N	I	-	2	0	RBM47	40134964	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.270000	0.95690	2.125000	0.65367	0.379000	0.24179	ATC		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		T	40440207	A	T	40440207	3	4	357	1	0	0	0	0	1	0	0	0	13144	333	12	5	1093	5	RBM47	4	40440207	Missense_Mutation	SNP	A	TCGA-29-2429-01A-01D-1526-09		40440207	150714069	22	19540											
GRID2	2895	genome.wustl.edu	37	4	94693633	94693633	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr4:94693633G>C	ENST00000282020.4	+	16	3266	c.3008G>C	c.(3007-3009)cGa>cCa	p.R1003P	GRID2_ENST00000510992.1_Missense_Mutation_p.R908P	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	1003					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GATCCAGACCGAGGCACCTCC	0.433																																																0			4											57	56	56					4																	94693633		2203	4300	6503	94912656	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.3008G>C	4.37:g.94693633G>C	ENSP00000282020:p.Arg1003Pro		94912656	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441518	0.83993	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.15952	2.43;2.38	5.39	5.39	0.77823	.	0.373318	0.27336	N	0.019822	T	0.27663	0.0680	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.969	T	0.17715	-1.0360	10	0.62326	D	0.03	.	19.1601	0.93527	0.0:0.0:1.0:0.0	.	908;1003	E9PH24;O43424	.;GRID2_HUMAN	P	1003;908	ENSP00000282020:R1003P;ENSP00000421257:R908P	ENSP00000282020:R1003P	R	+	2	0	GRID2	94912656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.519000	0.84933	0.557000	0.71058	CGA		0.433	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			C	94693633	G	C	94693633	3	2	357	1	0	0	0	0	1	0	0	0	6772	1058	37	3	3070	3	GRID2	4	94693633	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	54253426	94693633	96460643	23	19541											
DAB2	1601	genome.wustl.edu	37	5	39383170	39383170	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr5:39383170G>A	ENST00000320816.6	-	10	1358	c.891C>T	c.(889-891)gaC>gaT	p.D297D	DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Silent_p.D276D|DAB2_ENST00000545653.1_Silent_p.D276D	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	297	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGAAAGGATCGTCACGGAAAG	0.483																																																0			5											143	147	146					5																	39383170		2203	4300	6503	39418927	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.891C>T	5.37:g.39383170G>A			39418927	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		A	39383170	G	A	39383170	2	1	357	1	0	0	0	0	0	0	0	1	4218	1136	40	1		1	DAB2	5	39383170	Silent	SNP	G	TCGA-29-2429-01A-01D-1526-09		39383170	141532090	24	19542											
AP3B1	8546	genome.wustl.edu	37	5	77524010	77524010	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr5:77524010A>T	ENST00000255194.6	-	4	508	c.333T>A	c.(331-333)gaT>gaA	p.D111E	AP3B1_ENST00000519295.1_Missense_Mutation_p.D62E	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	111					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGAGTGCAAGATCCTGCTGTT	0.368									Hermansky-Pudlak syndrome																																							0			5											104	99	101					5																	77524010		2203	4300	6503	77559766	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.333T>A	5.37:g.77524010A>T	ENSP00000255194:p.Asp111Glu		77559766	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201195	0.58234	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	T;T	0.74632	-0.86;-0.86	5.48	1.85	0.25348	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.095273	0.64402	N	0.000001	T	0.67353	0.2884	L	0.56124	1.755	0.51482	D	0.999927	B	0.22080	0.064	B	0.25140	0.058	T	0.62196	-0.6905	10	0.87932	D	0	-17.7683	8.874	0.35334	0.6043:0.0:0.3957:0.0	.	111	O00203	AP3B1_HUMAN	E	111;62;111	ENSP00000255194:D111E;ENSP00000430597:D62E	ENSP00000255194:D111E	D	-	3	2	AP3B1	77559766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.419000	0.34793	0.144000	0.18951	0.472000	0.43445	GAT		0.368	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			T	77524010	A	T	77524010	3	4	357	1	0	0	0	0	1	0	0	0	744	330	12	5	3047	5	AP3B1	5	77524010	Missense_Mutation	SNP	A	TCGA-29-2429-01A-01D-1526-09	38140840	77524010	103391250	25	19543											
CHD1	1105	genome.wustl.edu	37	5	98207755	98207755	+	Splice_Site	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr5:98207755C>T	ENST00000284049.3	-	27	4010	c.3861G>A	c.(3859-3861)aaG>aaA	p.K1287K	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1287					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGATAAATACCTTGTGTGTTA	0.303																																																0			5											113	117	116					5																	98207755		2203	4300	6503	98235655	SO:0001630	splice_region_variant	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3861+1G>A	5.37:g.98207755C>T			98235655	Q17RZ3	Silent	SNP	ENST00000284049.3	37	CCDS34204.1																																																																																				0.303	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	Silent	T	98207755	C	T	98207755	5	4	357	1	0	0	0	0	0	0	1	0	3323	695	24	2	1307	2	CHD1	5	98207755	Splice_Site	SNP	C	TCGA-29-2429-01A-01D-1526-09	20683745	98207755	82707505	26	19544											
SERPINB9	5272	genome.wustl.edu	37	6	2890404	2890404	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:2890404G>A	ENST00000380698.4	-	7	1213	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	375					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCTTTATGGCGATGAGAACCT	0.537																																																0			6											61	56	58					6																	2890404		2203	4300	6503	2835403	SO:0001583	missense	5272			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.1124C>T	6.37:g.2890404G>A	ENSP00000370074:p.Ser375Leu		2835403	B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714744	0.68730	.	.	ENSG00000170542	ENST00000380698	D	0.83755	-1.76	4.66	3.77	0.43336	Serpin domain (3);	0.159864	0.64402	D	0.000015	D	0.84638	0.5516	M	0.91717	3.235	0.48571	D	0.999677	P	0.47545	0.897	P	0.48982	0.597	D	0.86762	0.1967	10	0.72032	D	0.01	.	9.5214	0.39138	0.1689:0.0:0.8311:0.0	.	375	P50453	SPB9_HUMAN	L	375	ENSP00000370074:S375L	ENSP00000370074:S375L	S	-	2	0	SERPINB9	2835403	1.000000	0.71417	0.089000	0.20774	0.611000	0.37282	3.739000	0.55075	1.218000	0.43458	0.655000	0.94253	TCG		0.537	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			A	2890404	G	A	2890404	3	1	357	1	0	0	0	0	1	0	0	0	14111	1059	37	1	10	1	SERPINB9	6	2890404	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09		2890404	168224663	27	19545											
TRIM39	56658	genome.wustl.edu	37	6	30309877	30309877	+	Silent	SNP	C	C	T	rs140287492		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:30309877C>T	ENST00000396547.1	+	8	1558	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	TRIM39_ENST00000396551.3_Silent_p.A436A|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000376659.5_Silent_p.A436A|TRIM39_ENST00000540416.1_Silent_p.A436A|TRIM39_ENST00000376656.4_Silent_p.A466A|TRIM39_ENST00000396548.1_Silent_p.A436A			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	466	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						ACTATGAGGCCGGCACACTGT	0.483																																																0			6						C	,,	0,3022		0,0,1511	88	86	87		,1398,1308	0.6	1	6	dbSNP_134	87	1,5417		0,1,2708	no	intron,coding-synonymous,coding-synonymous	TRIM39,TRIM39-RPP21	NM_001199119.1,NM_021253.3,NM_172016.2	,,	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	,,	,466/519,436/489	30309877	1,8439	1511	2709	4220	30417856	SO:0001819	synonymous_variant	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1398C>T	6.37:g.30309877C>T			30417856	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	CCDS34377.1																																																																																				0.483	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		T	30309877	C	T	30309877	2	4	357	1	0	0	0	0	0	0	0	1	16513	639	23	1		1	TRIM39	6	30309877	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09	27419473	30309877	140805190	28	19546											
DOM3Z	1797	genome.wustl.edu	37	6	31937743	31937743	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:31937743C>G	ENST00000375349.3	-	7	1513	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	STK19_ENST00000375331.2_5'Flank|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000337523.5_Missense_Mutation_p.D368H|DXO_ENST00000375356.3_Missense_Mutation_p.D368H|DXO_ENST00000478221.1_5'UTR			O77932	DXO_HUMAN	decapping exoribonuclease	368					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										TAAGGTGCATCTTGGTGTACA	0.567																																																0			6											61	65	63					6																	31937743		2203	4300	6503	32045722	SO:0001583	missense	1797			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"DOM-3 (C. elegans) homolog Z", "dom-3 homolog Z (C. elegans)"	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.1102G>C	6.37:g.31937743C>G	ENSP00000364498:p.Asp368His		32045722	A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	CCDS4732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.022066|4.022066	0.75275|0.75275	.|.	.|.	ENSG00000204348|ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356|ENST00000495340	T;T;T|.	0.47869|.	0.83;0.83;0.83|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.497250|.	0.21586|.	N|.	0.072177|.	T|T	0.57489|0.57489	0.2057|0.2057	L|L	0.39898|0.39898	1.24|1.24	0.49299|0.49299	D|D	0.999775|0.999775	D|.	0.63880|.	0.993|.	P|.	0.45639|.	0.488|.	T|T	0.53315|0.53315	-0.8456|-0.8456	10|5	0.62326|.	D|.	0.03|.	-4.6596|-4.6596	18.576|18.576	0.91155|0.91155	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	368|.	O77932|.	DOM3Z_HUMAN|.	H|N	368|145	ENSP00000337759:D368H;ENSP00000364498:D368H;ENSP00000364505:D368H|.	ENSP00000337759:D368H|.	D|K	-|-	1|3	0|2	DOM3Z|DOM3Z	32045722|32045722	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.960000|0.960000	0.62799|0.62799	4.772000|4.772000	0.62324|0.62324	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.567	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			G	31937743	C	G	31937743	3	3	357	1	0	0	0	0	1	0	0	0	4705	913	32	3	92	3	DOM3Z	6	31937743	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	1627866	31937743	139177324	29	19547											
C4A	721	genome.wustl.edu	37	6	31995161	31995161	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:31995161T>C	ENST00000435363.2	+	21	2825	c.2741T>C	c.(2740-2742)gTg>gCg	p.V914A	C4B_ENST00000425700.2_Missense_Mutation_p.V914A	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	914					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	CTGAAGGTGGTGGCTCGAGGG	0.642																																																0			6											9	18	16					6																	31995161		446	1431	1877	32103139	SO:0001583	missense	720			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"Blood group antigens", "Complement system"	1324	protein-coding gene	gene with protein product		120820	"complement component 4B"				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.2741T>C	6.37:g.31995161T>C	ENSP00000415941:p.Val914Ala		32103139	A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	t	15.75	2.924479	0.52653	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.33865	1.39;1.42	4.77	4.77	0.60923	.	0.844961	0.10549	N	0.661677	T	0.21347	0.0514	M	0.67953	2.075	0.33956	D	0.645073	B;B	0.20887	0.02;0.049	B;B	0.22601	0.036;0.04	T	0.07404	-1.0774	10	0.27785	T	0.31	.	10.7152	0.46008	0.0:0.0:0.0:1.0	.	914;914	F5GXS0;Q6U2E9	.;.	A	914	ENSP00000415941:V914A;ENSP00000391933:V914A	ENSP00000391933:V914A	V	+	2	0	C4B	32103139	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.029000	0.41098	1.777000	0.52277	0.456000	0.33151	GTG		0.642	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		C	31995161	T	C	31995161	3	2	357	1	0	0	0	0	1	0	0	0	2247	1696	59	4	7885	4	C4A	6	31995161	Missense_Mutation	SNP	T	TCGA-29-2429-01A-01D-1526-09	57418	31995161	139119906	30	19548											
OSTM1	28962	genome.wustl.edu	37	6	108366015	108366015	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:108366015C>A	ENST00000193322.3	-	6	1064	c.979G>T	c.(979-981)Gca>Tca	p.A327S	OSTM1_ENST00000492130.1_5'Flank	NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	327					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		TGAATATTTGCAAAACTGGTA	0.289																																					Melanoma(162;1427 1909 3096 17430 21396)											0			6											116	103	108					6																	108366015		2202	4300	6502	108472708	SO:0001583	missense	28962			AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"CLCN7 accessory beta subunit"	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.979G>T	6.37:g.108366015C>A	ENSP00000193322:p.Ala327Ser		108472708	E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	ENST00000193322.3	37	CCDS5062.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222215	0.79464	.	.	ENSG00000081087	ENST00000193322	T	0.46451	0.87	5.34	5.34	0.76211	.	0.243384	0.47455	D	0.000222	T	0.37461	0.1004	L	0.51422	1.61	0.27729	N	0.944873	D	0.53312	0.959	P	0.50049	0.629	T	0.24512	-1.0158	10	0.59425	D	0.04	-12.8827	17.6042	0.88033	0.0:1.0:0.0:0.0	.	327	Q86WC4	OSTM1_HUMAN	S	327	ENSP00000193322:A327S	ENSP00000193322:A327S	A	-	1	0	OSTM1	108472708	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.419000	0.44671	2.507000	0.84556	0.467000	0.42956	GCA		0.289	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028		A	108366015	C	A	108366015	3	1	357	1	0	0	0	0	1	0	0	0	11298	710	25	3	29	3	OSTM1	6	108366015	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	76370854	108366015	62749052	31	19549											
ROS1	6098	genome.wustl.edu	37	6	117686365	117686365	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:117686365G>C	ENST00000368508.3	-	20	3174	c.2976C>G	c.(2974-2976)ttC>ttG	p.F992L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.F987L	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	992	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACTAGCCAAGAACTAAAATA	0.323			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0			6											48	48	48					6																	117686365		2203	4299	6502	117793058	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2976C>G	6.37:g.117686365G>C	ENSP00000357494:p.Phe992Leu		117793058	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	5.023	0.189961	0.09547	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.51817	0.69;0.69	5.73	2.13	0.27403	.	0.549745	0.18335	N	0.144345	T	0.09291	0.0229	N	0.14661	0.345	0.58432	D	0.999999	B	0.15473	0.013	B	0.09377	0.004	T	0.17868	-1.0355	10	0.09084	T	0.74	.	6.4285	0.21784	0.5704:0.0:0.4296:0.0	.	992	P08922	ROS1_HUMAN	L	992;987	ENSP00000357494:F992L;ENSP00000357493:F987L	ENSP00000357493:F987L	F	-	3	2	ROS1	117793058	0.995000	0.38212	1.000000	0.80357	0.561000	0.35649	1.047000	0.30367	0.510000	0.28216	0.655000	0.94253	TTC		0.323	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			C	117686365	G	C	117686365	3	2	357	1	0	0	0	0	1	0	0	0	13534	933	33	3	4163	3	ROS1	6	117686365	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	9320350	117686365	53428702	32	19550											
LAMA2	3908	genome.wustl.edu	37	6	129419451	129419451	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:129419451T>C	ENST00000421865.2	+	4	579	c.530T>C	c.(529-531)cTa>cCa	p.L177P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	177	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACGGAGTGCCTAACGCTTTAC	0.483																																																0			6											103	96	99					6																	129419451		2203	4300	6503	129461144	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.530T>C	6.37:g.129419451T>C	ENSP00000400365:p.Leu177Pro		129461144	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150137	0.57151	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.75938	-0.98	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000008	D	0.83110	0.5183	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85834	0.1393	10	0.87932	D	0	.	15.6136	0.76748	0.0:0.0:0.0:1.0	.	177;177	A6NF00;P24043	.;LAMA2_HUMAN	P	177	ENSP00000400365:L177P	ENSP00000346769:L177P	L	+	2	0	LAMA2	129461144	1.000000	0.71417	0.915000	0.36163	0.270000	0.26580	7.939000	0.87685	2.158000	0.67659	0.383000	0.25322	CTA		0.483	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			C	129419451	T	C	129419451	3	2	357	1	0	0	0	0	1	0	0	0	8606	1522	53	4	544	4	LAMA2	6	129419451	Missense_Mutation	SNP	T	TCGA-29-2429-01A-01D-1526-09	11733086	129419451	41695616	33	19551											
LAMA2	3908	genome.wustl.edu	37	6	129785512	129785512	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:129785512G>T	ENST00000421865.2	+	50	7119	c.7070G>T	c.(7069-7071)tGg>tTg	p.W2357L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2357	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCCATTCGCTGGTACCCCAAC	0.453																																																0			6											301	237	259					6																	129785512		2203	4300	6503	129827205	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7070G>T	6.37:g.129785512G>T	ENSP00000400365:p.Trp2357Leu		129827205	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256654	0.95336	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.77358	-1.09	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.056850	0.85682	D	0.000000	T	0.75766	0.3894	L	0.28014	0.82	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.60886	0.88;0.88	T	0.72966	-0.4131	9	.	.	.	.	20.1922	0.98231	0.0:0.0:1.0:0.0	.	2358;2357	A6NF00;P24043	.;LAMA2_HUMAN	L	2357;2356;2357;375	ENSP00000400365:W2357L	.	W	+	2	0	LAMA2	129827205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.352000	0.97076	2.767000	0.95098	0.655000	0.94253	TGG		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129785512	G	T	129785512	3	4	357	1	0	0	0	0	1	0	0	0	8606	1357	47	3	7268	3	LAMA2	6	129785512	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	366061	129785512	41329555	34	19552											
MAP3K5	4217	genome.wustl.edu	37	6	137019804	137019804	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr6:137019804T>C	ENST00000359015.4	-	4	989	c.629A>G	c.(628-630)tAc>tGc	p.Y210C		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	210					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AACAAAGGTGTAGTTCCCAGT	0.502																																																0			6											109	97	101					6																	137019804		2203	4300	6503	137061497	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.629A>G	6.37:g.137019804T>C	ENSP00000351908:p.Tyr210Cys		137061497	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313673	0.81358	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.11385	2.78	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.06607	-1.0817	10	0.87932	D	0	.	15.6737	0.77297	0.0:0.0:0.0:1.0	.	290;55;210	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	C	210;290	ENSP00000351908:Y210C	ENSP00000351908:Y210C	Y	-	2	0	MAP3K5	137061497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.103000	0.63969	0.533000	0.62120	TAC		0.502	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			C	137019804	T	C	137019804	3	2	357	1	0	0	0	0	1	0	0	0	9253	1638	57	4	3603	4	MAP3K5	6	137019804	Missense_Mutation	SNP	T	TCGA-29-2429-01A-01D-1526-09	7234292	137019804	34095263	35	19553											
GLI3	2737	genome.wustl.edu	37	7	42006013	42006013	+	Silent	SNP	C	C	T	rs375355919		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr7:42006013C>T	ENST00000395925.3	-	15	2742	c.2658G>A	c.(2656-2658)ccG>ccA	p.P886P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	886					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCACGTTCTGCGGCCGGCCCT	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							0			7											22	25	24					7																	42006013		2199	4297	6496	41972538	SO:0001819	synonymous_variant	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2658G>A	7.37:g.42006013C>T			41972538	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		T	42006013	C	T	42006013	2	4	357	1	0	0	0	0	0	0	0	1	6439	755	27	1		1	GLI3	7	42006013	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09		42006013	117132650	36	19554											
DPYSL2	1808	genome.wustl.edu	37	8	26484731	26484731	+	Splice_Site	SNP	A	A	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr8:26484731A>G	ENST00000311151.5	+	6	953	c.541A>G	c.(541-543)Att>Gtt	p.I181V	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Splice_Site_p.I145V|DPYSL2_ENST00000521913.1_Splice_Site_p.I145V	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	181					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCTCTCTCAGATTTATGAAGT	0.488																																																0			8											112	105	107					8																	26484731		2203	4300	6503	26540648	SO:0001630	splice_region_variant	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.541-1A>G	8.37:g.26484731A>G			26540648	A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460895	0.43736	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.58	5.58	0.84498	Amidohydrolase 1 (1);	0.121071	0.56097	D	0.000021	D	0.86335	0.5908	L	0.39692	1.235	0.50813	D	0.999898	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.81688	-0.0819	9	.	.	.	-19.6557	15.7458	0.77939	1.0:0.0:0.0:0.0	.	181;181;237	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	V	145;181;181;145	ENSP00000427985:I145V;ENSP00000309539:I181V;ENSP00000428909:I181V;ENSP00000431117:I145V	.	I	+	1	0	DPYSL2	26540648	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	3.798000	0.55522	2.111000	0.64477	0.533000	0.62120	ATT		0.488	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	Missense_Mutation	G	26484731	A	G	26484731	5	3	357	1	0	0	0	0	0	0	1	0	4747	347	12	4	563	4	DPYSL2	8	26484731	Splice_Site	SNP	A	TCGA-29-2429-01A-01D-1526-09		26484731	119879291	37	19555											
EXOSC4	54512	genome.wustl.edu	37	8	145135279	145135279	+	Silent	SNP	G	G	A	rs147555477		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr8:145135279G>A	ENST00000316052.5	+	3	616	c.513G>A	c.(511-513)gcG>gcA	p.A171A	EXOSC4_ENST00000525936.1_Missense_Mutation_p.G129R|CTD-3065J16.9_ENST00000524499.1_RNA|GPAA1_ENST00000361036.6_5'Flank|GPAA1_ENST00000355091.4_5'Flank	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	171					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCCCTGGCGGACCTCAGCC	0.647																																																0			8						G		0,4406		0,0,2203	54	56	55		513	-10.8	0.1	8	dbSNP_134	55	1,8599		0,1,4299	no	coding-synonymous	EXOSC4	NM_019037.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		171/246	145135279	1,13005	2203	4300	6503	145207267	SO:0001819	synonymous_variant	54512			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"exosome component Rrp41"	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.513G>A	8.37:g.145135279G>A			145207267		Silent	SNP	ENST00000316052.5	37	CCDS6414.1	.	.	.	.	.	.	.	.	.	.	G	2.208	-0.381449	0.05000	0.0	1.16E-4	ENSG00000178896	ENST00000525936	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.55685	-0.8102	5	0.87932	D	0	-6.9186	7.8872	0.29656	0.2093:0.2137:0.5023:0.0747	.	.	.	.	R	129	.	ENSP00000432661:G129R	G	+	1	0	EXOSC4	145207267	0.000000	0.05858	0.137000	0.22149	0.644000	0.38419	-3.768000	0.00371	-3.707000	0.00118	-3.230000	0.00052	GGA		0.647	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		A	145135279	G	A	145135279	2	1	357	1	0	0	0	0	0	0	0	1	5317	1103	39	1		1	EXOSC4	8	145135279	Silent	SNP	G	TCGA-29-2429-01A-01D-1526-09	118650548	145135279	1228743	38	19556											
PSIP1	11168	genome.wustl.edu	37	9	15468838	15468838	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr9:15468838G>C	ENST00000380733.4	-	14	1553	c.1210C>G	c.(1210-1212)Cgg>Ggg	p.R404G	PSIP1_ENST00000380738.4_Missense_Mutation_p.R404G			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	404					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGAATCGCCGTATCTGAGAA	0.303																																																0			9											71	69	70					9																	15468838		2203	4300	6503	15458838	SO:0001583	missense	11168			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1210C>G	9.37:g.15468838G>C	ENSP00000370109:p.Arg404Gly		15458838	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512467	0.64522	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.68903	-0.36;-0.36	5.13	5.13	0.70059	.	0.053624	0.85682	D	0.000000	T	0.74397	0.3711	L	0.55990	1.75	0.80722	D	1	D	0.58970	0.984	P	0.53490	0.727	T	0.77172	-0.2685	10	0.87932	D	0	.	19.4671	0.94946	0.0:0.0:1.0:0.0	.	404	O75475	PSIP1_HUMAN	G	404	ENSP00000370109:R404G;ENSP00000370114:R404G	ENSP00000370109:R404G	R	-	1	2	PSIP1	15458838	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	5.073000	0.64395	2.766000	0.95052	0.650000	0.86243	CGG		0.303	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		C	15468838	G	C	15468838	3	2	357	1	0	0	0	0	1	0	0	0	12666	1144	40	3	394	3	PSIP1	9	15468838	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09		15468838	125744593	39	19557											
PTER	9317	genome.wustl.edu	37	10	16553185	16553185	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr10:16553185G>T	ENST00000378000.1	+	6	1226	c.980G>T	c.(979-981)aGa>aTa	p.R327I	PTER_ENST00000423462.2_Missense_Mutation_p.R280I|PTER_ENST00000535784.2_Missense_Mutation_p.R327I|PTER_ENST00000298942.3_Missense_Mutation_p.R327I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	327					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ATGTTGCTGAGAGGCATAACT	0.398																																					Ovarian(2;46 150 15648 38137 47908)											0			10											169	161	164					10																	16553185		2203	4300	6503	16593191	SO:0001583	missense	9317			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.980G>T	10.37:g.16553185G>T	ENSP00000367239:p.Arg327Ile		16593191	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716404	0.68844	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	M	0.90425	3.115	0.80722	D	1	D;P	0.58970	0.984;0.804	D;P	0.66847	0.947;0.771	T	0.76429	-0.2962	10	0.44086	T	0.13	-26.2545	20.1859	0.98214	0.0:0.0:1.0:0.0	.	280;327	Q96BW5-2;Q96BW5	.;PTER_HUMAN	I	327;327;280;327;327	ENSP00000439485:R327I;ENSP00000389535:R280I;ENSP00000367239:R327I;ENSP00000298942:R327I	ENSP00000298942:R327I	R	+	2	0	PTER	16593191	1.000000	0.71417	0.967000	0.41034	0.312000	0.27988	9.230000	0.95299	2.787000	0.95880	0.603000	0.83216	AGA		0.398	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		T	16553185	G	T	16553185	3	4	357	1	0	0	0	0	1	0	0	0	12742	942	33	3	994	3	PTER	10	16553185	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09		16553185	118981562	40	19558											
GAL3ST3	89792	genome.wustl.edu	37	11	65810697	65810697	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:65810697C>T	ENST00000312006.4	-	3	858	c.577G>A	c.(577-579)Gct>Act	p.A193T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A193T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	193					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGCTCGCCAGCGCGGTAGTAT	0.687																																																0			11											35	38	37					11																	65810697		2201	4294	6495	65567273	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.577G>A	11.37:g.65810697C>T	ENSP00000308591:p.Ala193Thr		65567273	Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375872	0.61735	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99727	-6.55;-6.55	4.51	2.32	0.28847	.	0.218626	0.37715	N	0.001966	D	0.97368	0.9139	N	0.19112	0.55	0.32922	D	0.515914	P	0.51653	0.947	B	0.37480	0.251	D	0.99954	1.1601	10	0.13108	T	0.6	-15.6084	11.79	0.52063	0.0:0.4154:0.5846:0.0	.	193	Q96A11	G3ST3_HUMAN	T	193	ENSP00000308591:A193T;ENSP00000434829:A193T	ENSP00000308591:A193T	A	-	1	0	GAL3ST3	65567273	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	2.427000	0.44740	0.977000	0.38444	0.561000	0.74099	GCT		0.687	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		T	65810697	C	T	65810697	3	4	357	1	0	0	0	0	1	0	0	0	6199	768	27	1	722	1	GAL3ST3	11	65810697	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09		65810697	69195819	41	19559											
MTL5	9633	genome.wustl.edu	37	11	68514684	68514684	+	Missense_Mutation	SNP	T	T	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:68514684T>A	ENST00000255087.5	-	3	805	c.622A>T	c.(622-624)Aac>Tac	p.N208Y	MTL5_ENST00000544963.1_Missense_Mutation_p.N208Y|MTL5_ENST00000443940.2_Missense_Mutation_p.N208Y|MTL5_ENST00000540869.1_5'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	208					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ACCATTGGGTTGGAATCTTTC	0.413																																																0			11											140	131	134					11																	68514684		2200	4294	6494	68271260	SO:0001583	missense	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.622A>T	11.37:g.68514684T>A	ENSP00000255087:p.Asn208Tyr		68271260	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506093	0.64410	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.51071	1.36;0.72;1.32	5.1	5.1	0.69264	.	0.190980	0.37304	N	0.002155	T	0.55305	0.1912	L	0.32530	0.975	0.26533	N	0.97422	D;D;D	0.76494	0.999;0.99;0.989	D;D;P	0.66847	0.947;0.912;0.726	T	0.50816	-0.8783	10	0.49607	T	0.09	-13.729	13.2493	0.60041	0.0:0.0:0.0:1.0	.	208;191;208	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	Y	208	ENSP00000255087:N208Y;ENSP00000403086:N208Y;ENSP00000440968:N208Y	ENSP00000255087:N208Y	N	-	1	0	MTL5	68271260	0.529000	0.26322	0.735000	0.30896	0.682000	0.39822	4.081000	0.57627	2.145000	0.66743	0.459000	0.35465	AAC		0.413	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		A	68514684	T	A	68514684	3	1	357	1	0	0	0	0	1	0	0	0	9936	1812	63	5	940	5	MTL5	11	68514684	Missense_Mutation	SNP	T	TCGA-29-2429-01A-01D-1526-09	2703987	68514684	66491832	42	19560											
IGHMBP2	3508	genome.wustl.edu	37	11	68707039	68707039	+	Missense_Mutation	SNP	G	G	A	rs373408947		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:68707039G>A	ENST00000255078.3	+	15	2933	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	941					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCATGCCCGGCAGAGAATC	0.647																																																0			11						G	GLN/ARG	0,4400		0,0,2200	30	35	34		2822	4.5	1	11		34	1,8587	1.2+/-3.3	0,1,4293	no	missense	IGHMBP2	NM_002180.2	43	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	941/994	68707039	1,12987	2200	4294	6494	68463615	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2822G>A	11.37:g.68707039G>A	ENSP00000255078:p.Arg941Gln		68463615	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785204	0.90282	0.0	1.16E-4	ENSG00000132740	ENST00000255078	T	0.48201	0.82	4.54	4.54	0.55810	Zinc finger, AN1-type (1);	0.075178	0.53938	D	0.000049	T	0.67107	0.2858	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72017	-0.4417	10	0.87932	D	0	-1.6158	16.0442	0.80707	0.0:0.0:1.0:0.0	.	941	P38935	SMBP2_HUMAN	Q	941	ENSP00000255078:R941Q	ENSP00000255078:R941Q	R	+	2	0	IGHMBP2	68463615	1.000000	0.71417	0.998000	0.56505	0.672000	0.39443	8.971000	0.93419	2.054000	0.61138	0.491000	0.48974	CGG		0.647	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		A	68707039	G	A	68707039	3	1	357	1	0	0	0	0	1	0	0	0	7591	1116	39	1	2880	1	IGHMBP2	11	68707039	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	192355	68707039	66299477	43	19561											
GDPD4	220032	genome.wustl.edu	37	11	76979561	76979561	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:76979561C>T	ENST00000376217.2	-	9	898	c.648G>A	c.(646-648)atG>atA	p.M216I	GDPD4_ENST00000315938.4_Missense_Mutation_p.M216I|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	216	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCTCAAAGGACATCATGGTAT	0.493																																																0			11											182	178	180					11																	76979561		2200	4292	6492	76657209	SO:0001583	missense	220032			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.648G>A	11.37:g.76979561C>T	ENSP00000365390:p.Met216Ile		76657209	Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.150662	0.78001	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.29142	1.58;1.58	4.68	4.68	0.58851	.	0.038769	0.85682	D	0.000000	T	0.24547	0.0595	L	0.29908	0.895	0.36785	D	0.884531	P	0.48294	0.908	B	0.40677	0.337	T	0.20371	-1.0277	10	0.48119	T	0.1	-29.7739	14.98	0.71303	0.0:1.0:0.0:0.0	.	216	Q6W3E5-2	.	I	216	ENSP00000365390:M216I;ENSP00000320815:M216I	ENSP00000320815:M216I	M	-	3	0	GDPD4	76657209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.556000	0.53734	2.595000	0.87683	0.591000	0.81541	ATG		0.493	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		T	76979561	C	T	76979561	3	4	357	1	0	0	0	0	1	0	0	0	6326	478	17	2	946	2	GDPD4	11	76979561	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	8272522	76979561	58026955	44	19562											
ATM	472	genome.wustl.edu	37	11	108180907	108180907	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:108180907T>G	ENST00000452508.2	+	40	5972	c.5783T>G	c.(5782-5784)tTt>tGt	p.F1928C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.F1928C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1928					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGAACAATTTTTAATGATGCT	0.308			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0			11											63	67	65					11																	108180907		2201	4297	6498	107686117	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5783T>G	11.37:g.108180907T>G	ENSP00000388058:p.Phe1928Cys		107686117	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226475	0.39300	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78707	-1.2;-1.2	5.7	4.54	0.55810	Armadillo-type fold (1);	0.092082	0.85682	D	0.000000	T	0.70736	0.3258	L	0.50333	1.59	0.80722	D	1	B;B	0.23490	0.009;0.086	B;B	0.17722	0.007;0.019	T	0.64681	-0.6350	10	0.33141	T	0.24	.	11.9742	0.53081	0.13:0.0:0.0:0.87	.	580;1928	E9PFP9;Q13315	.;ATM_HUMAN	C	1928	ENSP00000278616:F1928C;ENSP00000388058:F1928C	ENSP00000278616:F1928C	F	+	2	0	ATM	107686117	1.000000	0.71417	0.983000	0.44433	0.937000	0.57800	3.933000	0.56545	0.949000	0.37715	0.455000	0.32223	TTT		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108180907	T	G	108180907	3	3	357	1	0	0	0	0	1	0	0	0	1109	1841	64	5	5933	5	ATM	11	108180907	Missense_Mutation	SNP	T	TCGA-29-2429-01A-01D-1526-09	31201346	108180907	26825609	45	19563											
OR10G7	390265	genome.wustl.edu	37	11	123909523	123909523	+	Silent	SNP	G	G	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:123909523G>T	ENST00000330487.5	-	1	194	c.186C>A	c.(184-186)acC>acA	p.T62T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGACAGGTTGGTGAGGAAGT	0.547																																																0			11											21	21	21					11																	123909523		2195	4270	6465	123414733	SO:0001819	synonymous_variant	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.186C>A	11.37:g.123909523G>T			123414733	Q6IFE8	Silent	SNP	ENST00000330487.5	37	CCDS31705.1																																																																																				0.547	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909523	G	T	123909523	2	4	357	1	0	0	0	0	0	0	0	1	10902	1335	47	3		3	OR10G7	11	123909523	Silent	SNP	G	TCGA-29-2429-01A-01D-1526-09	15728616	123909523	11096993	46	19564											
CDON	50937	genome.wustl.edu	37	11	125830873	125830873	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:125830873G>T	ENST00000392693.3	-	20	3955	c.3828C>A	c.(3826-3828)agC>agA	p.S1276R	RP11-680F20.12_ENST00000582823.1_RNA|CDON_ENST00000263577.7_Missense_Mutation_p.S1253R|CDON_ENST00000531738.1_Missense_Mutation_p.S630R	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1276					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCTCTGTCGGGCTGTCTAAAG	0.522																																																0			11											124	125	124					11																	125830873		2201	4299	6500	125336083	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3828C>A	11.37:g.125830873G>T	ENSP00000376458:p.Ser1276Arg		125336083	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	6.445	0.450239	0.12223	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.71103	-0.47;0.22;-0.54	5.46	2.58	0.30949	.	0.273852	0.26620	N	0.023369	T	0.56645	0.1999	L	0.51422	1.61	0.09310	N	1	P;B;B	0.42409	0.779;0.435;0.201	B;B;B	0.36885	0.235;0.219;0.109	T	0.52525	-0.8564	10	0.49607	T	0.09	-8.1542	4.4086	0.11421	0.2968:0.1686:0.5346:0.0	.	1276;1253;630	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	R	1276;630;1253	ENSP00000376458:S1276R;ENSP00000432901:S630R;ENSP00000263577:S1253R	ENSP00000263577:S1253R	S	-	3	2	CDON	125336083	0.284000	0.24287	0.036000	0.18154	0.005000	0.04900	0.743000	0.26231	0.422000	0.26005	-0.123000	0.14984	AGC		0.522	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		T	125830873	G	T	125830873	3	4	357	1	0	0	0	0	1	0	0	0	3170	1194	42	3	39	3	CDON	11	125830873	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	1921350	125830873	9175643	47	19565											
ACAD8	27034	genome.wustl.edu	37	11	134131645	134131645	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr11:134131645C>T	ENST00000281182.4	+	9	1059	c.953C>T	c.(952-954)aCa>aTa	p.T318I	ACAD8_ENST00000374752.4_Missense_Mutation_p.T191I|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.T241I	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	318					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	TTGCAATTCACACTGGCTGAT	0.592																																					GBM(65;238 1125 33403 41853 48889)											0			11											87	79	82					11																	134131645		2201	4297	6498	133636855	SO:0001583	missense	27034			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.953C>T	11.37:g.134131645C>T	ENSP00000281182:p.Thr318Ile		133636855	B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115593	0.37339	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000374752	D;D;D	0.95980	-3.87;-3.87;-3.87	5.69	3.38	0.38709	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.240683	0.46758	D	0.000268	D	0.89406	0.6706	L	0.27975	0.815	0.09310	N	0.999999	B;B;B	0.22003	0.027;0.063;0.027	B;B;B	0.17098	0.006;0.017;0.01	T	0.80480	-0.1364	10	0.87932	D	0	.	4.4653	0.11685	0.5952:0.2291:0.0654:0.1102	.	241;191;318	B7Z5W4;Q6ZWP6;Q9UKU7	.;.;ACAD8_HUMAN	I	318;241;191	ENSP00000281182:T318I;ENSP00000443763:T241I;ENSP00000363884:T191I	ENSP00000281182:T318I	T	+	2	0	ACAD8	133636855	0.996000	0.38824	0.102000	0.21198	0.045000	0.14185	2.113000	0.41902	0.050000	0.15949	-5.061000	0.00001	ACA		0.592	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		T	134131645	C	T	134131645	3	4	357	1	0	0	0	0	1	0	0	0	110	478	17	2	987	2	ACAD8	11	134131645	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	8300772	134131645	874871	48	19566											
SOAT2	8435	genome.wustl.edu	37	12	53509382	53509382	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr12:53509382G>A	ENST00000301466.3	+	6	712	c.652G>A	c.(652-654)Gtg>Atg	p.V218M		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	218					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GCCGGTCCACGTGGCCGTGGA	0.716																																																0			12											12	13	13					12																	53509382		2199	4278	6477	51795649	SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.652G>A	12.37:g.53509382G>A	ENSP00000301466:p.Val218Met		51795649	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509372	0.64522	.	.	ENSG00000167780	ENST00000301466	T	0.20463	2.07	5.46	3.63	0.41609	.	0.128925	0.51477	N	0.000099	T	0.20373	0.0490	M	0.71206	2.165	0.50313	D	0.99986	P	0.36768	0.569	B	0.30495	0.116	T	0.02691	-1.1123	9	.	.	.	-24.5145	9.4706	0.38839	0.232:0.0:0.768:0.0	.	218	O75908	SOAT2_HUMAN	M	218	ENSP00000301466:V218M	.	V	+	1	0	SOAT2	51795649	0.275000	0.24201	0.684000	0.30055	0.488000	0.33401	0.292000	0.19011	0.799000	0.34018	0.655000	0.94253	GTG		0.716	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			A	53509382	G	A	53509382	3	1	357	1	0	0	0	0	1	0	0	0	14914	1145	40	1	674	1	SOAT2	12	53509382	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09		53509382	80342513	49	19567											
CHST11	50515	genome.wustl.edu	37	12	105151233	105151233	+	Silent	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr12:105151233C>T	ENST00000303694.5	+	3	1150	c.711C>T	c.(709-711)ttC>ttT	p.F237F	CHST11_ENST00000549260.1_Silent_p.F232F	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	237					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATGTCAAATTCGAGGAGTTTG	0.567																																																0			12											147	120	129					12																	105151233		2203	4300	6503	103675363	SO:0001819	synonymous_variant	50515			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.711C>T	12.37:g.105151233C>T			103675363	A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	CCDS9099.1																																																																																				0.567	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		T	105151233	C	T	105151233	2	4	357	1	0	0	0	0	0	0	0	1	3399	883	31	1		1	CHST11	12	105151233	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09	51641851	105151233	28700662	50	19568											
TBX3	6926	genome.wustl.edu	37	12	115117724	115117724	+	Silent	SNP	A	A	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr12:115117724A>G	ENST00000257566.3	-	3	1100	c.711T>C	c.(709-711)ggT>ggC	p.G237G	TBX3_ENST00000349155.2_Intron	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	237					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTACCTGAGTACCAAAACTAT	0.433																																																0			12											100	84	90					12																	115117724		2203	4300	6503	113602107	SO:0001819	synonymous_variant	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.711T>C	12.37:g.115117724A>G			113602107	Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	CCDS9176.1																																																																																				0.433	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		G	115117724	A	G	115117724	2	3	357	1	0	0	0	0	0	0	0	1	15659	378	14	4		4	TBX3	12	115117724	Silent	SNP	A	TCGA-29-2429-01A-01D-1526-09	9966491	115117724	18734171	51	19569											
GTF2F2	2963	genome.wustl.edu	37	13	45723918	45723918	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr13:45723918A>C	ENST00000340473.6	+	3	295	c.154A>C	c.(154-156)Act>Cct	p.T52P		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	52					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TCAAGGAAGGACTGAGGTAAG	0.259																																																0			13											27	28	28					13																	45723918		2194	4282	6476	44621918	SO:0001583	missense	2963			X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"General transcription factors"	4653	protein-coding gene	gene with protein product		189969	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.154A>C	13.37:g.45723918A>C	ENSP00000340823:p.Thr52Pro		44621918	A6NNS5|Q5W0H3	Missense_Mutation	SNP	ENST00000340473.6	37	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753349	0.31046	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.82	5.82	0.92795	Transcription Factor IIF, Rap30/Rap74, interaction (1);	1.094760	0.06945	N	0.813511	T	0.56601	0.1996	L	0.37630	1.12	0.50813	D	0.999895	B	0.02656	0.0	B	0.09377	0.004	T	0.17992	-1.0351	9	0.25106	T	0.35	-1.6724	14.1246	0.65213	1.0:0.0:0.0:0.0	.	52	P13984	T2FB_HUMAN	P	52	.	ENSP00000340823:T52P	T	+	1	0	GTF2F2	44621918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.424000	0.66464	2.232000	0.73038	0.482000	0.46254	ACT		0.259	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128		C	45723918	A	C	45723918	3	2	357	1	0	0	0	0	1	0	0	0	6859	275	10	5	164	5	GTF2F2	13	45723918	Missense_Mutation	SNP	A	TCGA-29-2429-01A-01D-1526-09		45723918	69445960	52	19570											
POMT2	29954	genome.wustl.edu	37	14	77746808	77746808	+	Splice_Site	SNP	T	T	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr14:77746808T>A	ENST00000261534.4	-	16	1856		c.e16-2			NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ACTGTTCCCCTGCATGAAGGT	0.537																																																0			14											151	133	139					14																	77746808		2203	4300	6503	76816561	SO:0001630	splice_region_variant	29954			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1654-2A>T	14.37:g.77746808T>A			76816561	Q9NSG6|Q9P1W0|Q9P1W2	Splice_Site	SNP	ENST00000261534.4	37	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502648	0.64298	.	.	ENSG00000009830	ENST00000261534;ENST00000556171	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5885	0.76506	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	POMT2	76816561	1.000000	0.71417	0.975000	0.42487	0.702000	0.40608	6.031000	0.70911	2.089000	0.63090	0.460000	0.39030	.		0.537	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382	Intron	A	77746808	T	A	77746808	5	1	357	1	0	0	0	0	0	0	1	0	12246	1594	55	5	624	5	POMT2	14	77746808	Splice_Site	SNP	T	TCGA-29-2429-01A-01D-1526-09		77746808	29602732	53	19571											
FLRT2	23768	genome.wustl.edu	37	14	86089206	86089206	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr14:86089206T>C	ENST00000330753.4	+	2	2115	c.1348T>C	c.(1348-1350)Tac>Cac	p.Y450H	FLRT2_ENST00000554746.1_Missense_Mutation_p.Y450H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	450	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGTGATGGCATACAAACTCAC	0.488																																																0			14											89	81	84					14																	86089206		2203	4300	6503	85158959	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1348T>C	14.37:g.86089206T>C	ENSP00000332879:p.Tyr450His		85158959	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928754	0.73327	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	D;D	0.91740	-2.9;-2.9	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.121979	0.56097	D	0.000022	D	0.92074	0.7488	L	0.34521	1.04	0.58432	D	0.999996	D	0.69078	0.997	P	0.59424	0.857	D	0.89579	0.3819	10	0.15499	T	0.54	-23.0129	16.8222	0.85835	0.0:0.0:0.0:1.0	.	450	O43155	FLRT2_HUMAN	H	450;450;103	ENSP00000332879:Y450H;ENSP00000451050:Y450H	ENSP00000332879:Y450H	Y	+	1	0	FLRT2	85158959	1.000000	0.71417	0.940000	0.37924	0.955000	0.61496	8.039000	0.88947	2.371000	0.80710	0.533000	0.62120	TAC		0.488	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			C	86089206	T	C	86089206	3	2	357	1	0	0	0	0	1	0	0	0	5939	1406	49	4	1350	4	FLRT2	14	86089206	Missense_Mutation	SNP	T	TCGA-29-2429-01A-01D-1526-09	8342398	86089206	21260334	54	19572											
C14orf102	55051	genome.wustl.edu	37	14	90770317	90770317	+	Missense_Mutation	SNP	G	G	A	rs560359168		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr14:90770317G>A	ENST00000354366.3	-	5	1199	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	NRDE2_ENST00000357904.3_Missense_Mutation_p.R92W	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	323																	TGCGTATCCCGAGGATTCTCC	0.517																																																0			14											155	128	137					14																	90770317		2203	4300	6503	89840070	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.967C>T	14.37:g.90770317G>A	ENSP00000346335:p.Arg323Trp		89840070	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198580	0.38806	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.32023	1.88;1.47	5.79	1.46	0.22682	Domain of unknown function DUF1740 (1);	0.840900	0.10847	N	0.627587	T	0.20659	0.0497	L	0.35723	1.085	0.09310	N	1	B	0.20780	0.048	B	0.14578	0.011	T	0.19910	-1.0291	10	0.37606	T	0.19	-4.8065	4.6759	0.12712	0.2536:0.0:0.482:0.2644	.	323	Q9H7Z3	CN102_HUMAN	W	323;92	ENSP00000346335:R323W;ENSP00000350579:R92W	ENSP00000346335:R323W	R	-	1	2	C14orf102	89840070	0.000000	0.05858	0.080000	0.20451	0.966000	0.64601	0.096000	0.15147	0.760000	0.33108	0.655000	0.94253	CGG		0.517	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		A	90770317	G	A	90770317	3	1	357	1	0	0	0	0	1	0	0	0	1735	1057	37	1	2567	1	C14orf102	14	90770317	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	4681111	90770317	16579223	55	19573											
GOLGA5	9950	genome.wustl.edu	37	14	93264220	93264220	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr14:93264220G>C	ENST00000163416.2	+	2	694	c.438G>C	c.(436-438)aaG>aaC	p.K146N	GOLGA5_ENST00000355976.2_Missense_Mutation_p.K146N	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	146					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AAAAAGGCAAGACACCTGTCT	0.428			T	RET	papillary thyroid																																		Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0			14											78	78	78					14																	93264220		2203	4300	6503	92333973	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.438G>C	14.37:g.93264220G>C	ENSP00000163416:p.Lys146Asn		92333973	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405976	0.42715	.	.	ENSG00000066455	ENST00000163416;ENST00000355976	T;T	0.34667	1.35;1.35	5.65	-0.85	0.10720	.	0.255835	0.26944	N	0.021707	T	0.30135	0.0755	L	0.60455	1.87	0.09310	N	1	B	0.17465	0.022	B	0.16722	0.016	T	0.29058	-1.0024	10	0.25106	T	0.35	-13.8804	11.4008	0.49868	0.4879:0.0:0.5121:0.0	.	146	Q8TBA6	GOGA5_HUMAN	N	146	ENSP00000163416:K146N;ENSP00000348252:K146N	ENSP00000163416:K146N	K	+	3	2	GOLGA5	92333973	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	0.166000	0.16583	-0.115000	0.11915	0.655000	0.94253	AAG		0.428	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			C	93264220	G	C	93264220	3	2	357	1	0	0	0	0	1	0	0	0	6556	933	33	3	440	3	GOLGA5	14	93264220	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	2493903	93264220	14085320	56	19574											
HERC2	8924	genome.wustl.edu	37	15	28474390	28474390	+	Silent	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr15:28474390C>T	ENST00000261609.7	-	34	5331	c.5223G>A	c.(5221-5223)caG>caA	p.Q1741Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCGAATGTTCTGTACAGCCC	0.373																																																0			15											135	147	143					15																	28474390		2203	4300	6503	26147985	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5223G>A	15.37:g.28474390C>T			26147985		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28474390	C	T	28474390	2	4	357	1	0	0	0	0	0	0	0	1	7058	912	32	2		2	HERC2	15	28474390	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09		28474390	74057002	57	19575											
SPG11	80208	genome.wustl.edu	37	15	44951409	44951409	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr15:44951409G>A	ENST00000261866.7	-	3	551	c.535C>T	c.(535-537)Cct>Tct	p.P179S	SPG11_ENST00000535302.2_Missense_Mutation_p.P179S|SPG11_ENST00000558319.1_Missense_Mutation_p.P179S|SPG11_ENST00000559193.1_Missense_Mutation_p.P179S|SPG11_ENST00000427534.2_Missense_Mutation_p.P179S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	179					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTCTTTCAGGAAATATAATA	0.383																																																0			15											109	109	109					15																	44951409		2198	4298	6496	42738701	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.535C>T	15.37:g.44951409G>A	ENSP00000261866:p.Pro179Ser		42738701	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	9.626	1.135031	0.21123	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.76448	-1.02;-0.77;-0.76	5.99	5.06	0.68205	.	0.339153	0.28225	N	0.016131	T	0.72179	0.3428	L	0.47716	1.5	0.30512	N	0.76935	B;B;B;B	0.32753	0.008;0.066;0.383;0.017	B;B;B;B	0.29716	0.019;0.073;0.106;0.023	T	0.73965	-0.3816	10	0.59425	D	0.04	-0.0767	15.2273	0.73361	0.0:0.14:0.8599:0.0	.	179;179;179;179	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	S	179	ENSP00000261866:P179S;ENSP00000445278:P179S;ENSP00000396110:P179S	ENSP00000261866:P179S	P	-	1	0	SPG11	42738701	1.000000	0.71417	0.997000	0.53966	0.552000	0.35366	2.529000	0.45632	1.513000	0.48852	0.650000	0.86243	CCT		0.383	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44951409	G	A	44951409	3	1	357	1	0	0	0	0	1	0	0	0	15043	1174	41	2	6948	2	SPG11	15	44951409	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	16477019	44951409	57579983	58	19576											
TLN2	83660	genome.wustl.edu	37	15	62948201	62948201	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr15:62948201G>A	ENST00000561311.1	+	7	806	c.576G>A	c.(574-576)acG>acA	p.T192T	TLN2_ENST00000306829.6_Silent_p.T192T			Q9Y4G6	TLN2_HUMAN	talin 2	192	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAAACGAAACGTTGCTGCTTA	0.403																																																0			15											122	102	109					15																	62948201		2203	4300	6503	60735493	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.576G>A	15.37:g.62948201G>A			60735493	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.403	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	62948201	G	A	62948201	2	1	357	1	0	0	0	0	0	0	0	1	15948	1132	40	1		1	TLN2	15	62948201	Silent	SNP	G	TCGA-29-2429-01A-01D-1526-09	17996792	62948201	39583191	59	19577											
ZSCAN2	54993	genome.wustl.edu	37	15	85165241	85165241	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr15:85165241G>C	ENST00000448803.2	+	3	2107	c.1815G>C	c.(1813-1815)caG>caC	p.Q605H	ZSCAN2_ENST00000358472.3_Missense_Mutation_p.Q455H|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.Q605H|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.Q604H|ZSCAN2_ENST00000541040.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	605					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		TCACACATCAGAGAACTCACA	0.488																																																0			15											58	63	62					15																	85165241		2203	4299	6502	82966245	SO:0001583	missense	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1815G>C	15.37:g.85165241G>C	ENSP00000410198:p.Gln605His		82966245	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281656	0.59758	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.04	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.141093	0.34435	N	0.003974	T	0.44477	0.1295	L	0.56396	1.775	0.80722	D	1	D;P	0.76494	0.999;0.941	P;B	0.59115	0.852;0.128	T	0.29640	-1.0005	9	.	.	.	-34.2346	12.6072	0.56529	0.0:0.1684:0.8316:0.0	.	605;605	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	H	605;605;455;604;586	ENSP00000410198:Q605H;ENSP00000445451:Q605H;ENSP00000351257:Q455H;ENSP00000325123:Q604H	.	Q	+	3	2	ZSCAN2	82966245	0.471000	0.25862	1.000000	0.80357	0.993000	0.82548	2.664000	0.46783	2.346000	0.79739	0.655000	0.94253	CAG		0.488	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		C	85165241	G	C	85165241	3	2	357	1	0	0	0	0	1	0	0	0	18231	933	33	3	1911	3	ZSCAN2	15	85165241	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	22217040	85165241	17366151	60	19578											
ITPRIPL2	162073	genome.wustl.edu	37	16	19127323	19127323	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr16:19127323C>A	ENST00000381440.3	+	1	2070	c.1540C>A	c.(1540-1542)Cgc>Agc	p.R514S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	514						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGGGGTCCCCGCTACCTTGC	0.672																																																0			16											46	50	49					16																	19127323		2197	4300	6497	19034824	SO:0001583	missense	162073				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1540C>A	16.37:g.19127323C>A	ENSP00000370849:p.Arg514Ser		19034824		Missense_Mutation	SNP	ENST00000381440.3	37	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343036	0.82022	.	.	ENSG00000205730	ENST00000381440	T	0.19669	2.13	5.5	5.5	0.81552	.	0.000000	0.36665	U	0.002463	T	0.37571	0.1008	L	0.32530	0.975	0.45777	D	0.998668	D	0.89917	1.0	D	0.81914	0.995	T	0.10613	-1.0622	10	0.72032	D	0.01	-13.0239	17.5806	0.87966	0.0:1.0:0.0:0.0	.	514	Q3MIP1	IPIL2_HUMAN	S	514	ENSP00000370849:R514S	ENSP00000370849:R514S	R	+	1	0	ITPRIPL2	19034824	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.442000	0.44873	2.588000	0.87417	0.561000	0.74099	CGC		0.672	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		A	19127323	C	A	19127323	3	1	357	1	0	0	0	0	1	0	0	0	7925	652	23	3	1542	3	ITPRIPL2	16	19127323	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09		19127323	71227430	61	19579											
ITGAD	3681	genome.wustl.edu	37	16	31409190	31409190	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr16:31409190G>A	ENST00000389202.2	+	5	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	129					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642																																																0			16											39	34	36					16																	31409190		2197	4300	6497	31316691	SO:0001819	synonymous_variant	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.387G>A	16.37:g.31409190G>A			31316691	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	4.454	0.084023	0.08583	.	.	ENSG00000156886	ENST00000316569	.	.	.	3.86	-3.43	0.04810	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33904	-0.9850	5	0.48119	T	0.1	.	1.0023	0.01479	0.1408:0.2268:0.2866:0.3459	.	.	.	.	H	37	.	ENSP00000323325:R37H	R	+	2	0	ITGAD	31316691	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.048000	0.11944	-0.346000	0.08312	-1.303000	0.01326	CGC		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		A	31409190	G	A	31409190	2	1	357	1	0	0	0	0	0	0	0	1	7884	1074	38	1		1	ITGAD	16	31409190	Silent	SNP	G	TCGA-29-2429-01A-01D-1526-09	12281867	31409190	58945563	62	19580											
HYDIN	54768	genome.wustl.edu	37	16	71096188	71096188	+	Missense_Mutation	SNP	C	C	A	rs548973496		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr16:71096188C>A	ENST00000393567.2	-	17	2410	c.2260G>T	c.(2260-2262)Ggg>Tgg	p.G754W	HYDIN_ENST00000538248.1_Missense_Mutation_p.G781W|HYDIN_ENST00000448691.1_Missense_Mutation_p.G754W|HYDIN_ENST00000541601.1_Missense_Mutation_p.G771W|HYDIN_ENST00000448089.2_Missense_Mutation_p.G754W|HYDIN_ENST00000321489.5_Missense_Mutation_p.G754W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	754					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGATGACCCCGCTGGGGGTG	0.557																																																0			16											7	7	7					16																	71096188		2184	4263	6447	69653689	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2260G>T	16.37:g.71096188C>A	ENSP00000377197:p.Gly754Trp		69653689	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302500	0.40795	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	4.88	4.88	0.63580	.	0.000000	0.33253	U	0.005106	T	0.52058	0.1711	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.60762	-0.7199	10	0.72032	D	0.01	.	16.8303	0.85942	0.0:1.0:0.0:0.0	.	781;771;754;754	B4DRN4;F5H6V3;Q4G0P3-5;F8WD23	.;.;.;.	W	754;754;754;754;754;781;771	ENSP00000377197:G754W;ENSP00000398544:G754W;ENSP00000394826:G754W;ENSP00000314736:G754W;ENSP00000444970:G781W;ENSP00000437341:G771W	ENSP00000313052:G754W	G	-	1	0	HYDIN	69653689	0.999000	0.42202	0.026000	0.17262	0.001000	0.01503	6.129000	0.71657	2.254000	0.74563	0.609000	0.83330	GGG		0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	71096188	C	A	71096188	3	1	357	1	0	0	0	0	1	0	0	0	7467	652	23	3	13394	3	HYDIN	16	71096188	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	39686998	71096188	19258565	63	19581											
WDR81	124997	genome.wustl.edu	37	17	1636852	1636852	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr17:1636852C>A	ENST00000409644.1	+	7	4521	c.4521C>A	c.(4519-4521)caC>caA	p.H1507Q	WDR81_ENST00000545662.1_Missense_Mutation_p.H138Q|WDR81_ENST00000419248.1_Missense_Mutation_p.H280Q|WDR81_ENST00000437219.2_Missense_Mutation_p.H304Q|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.H456Q|WDR81_ENST00000446363.1_Missense_Mutation_p.H146Q	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1507					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCCCAACCACGAGCTGGTTG	0.637																																																0			17											60	72	68					17																	1636852		2187	4256	6443	1583602	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4521C>A	17.37:g.1636852C>A	ENSP00000386609:p.His1507Gln		1583602	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236959	0.58886	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.62364	2.32;2.23;0.44;2.33;0.03;0.53;0.39	5.38	-5.6	0.02497	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.64404	1.975	0.42575	D	0.993195	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.953;0.998;0.995;0.986	T	0.73610	-0.3928	10	0.56958	D	0.05	.	14.3022	0.66359	0.0:0.4254:0.0:0.5746	.	138;304;634;456	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	Q	304;456;146;280;92;1507;258;138	ENSP00000391074:H304Q;ENSP00000312074:H456Q;ENSP00000401560:H146Q;ENSP00000407845:H280Q;ENSP00000395198:H92Q;ENSP00000386609:H1507Q;ENSP00000442726:H138Q	ENSP00000312074:H456Q	H	+	3	2	WDR81	1583602	0.001000	0.12720	0.923000	0.36655	0.969000	0.65631	-1.543000	0.02194	-0.866000	0.04068	-0.793000	0.03317	CAC		0.637	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		A	1636852	C	A	1636852	3	1	357	1	0	0	0	0	1	0	0	0	17330	535	19	3	4609	3	WDR81	17	1636852	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09		1636852	79558358	64	19582											
KIF1C	10749	genome.wustl.edu	37	17	4923836	4923836	+	Silent	SNP	G	G	A	rs200771979		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr17:4923836G>A	ENST00000320785.5	+	20	2157	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	AC109333.10_ENST00000438266.1_RNA|KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	600					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCAACCACCCGGAGCAGGCAA	0.582																																					Melanoma(96;1023 1447 10250 19259 33730)											0			17						G		1,4405	2.1+/-5.4	0,1,2202	48	50	50		1800	3.5	1	17		50	0,8598		0,0,4299	no	coding-synonymous	KIF1C	NM_006612.5		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		600/1104	4923836	1,13003	2203	4299	6502	4864560	SO:0001819	synonymous_variant	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1800G>A	17.37:g.4923836G>A			4864560	D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	CCDS11065.1																																																																																				0.582	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			A	4923836	G	A	4923836	2	1	357	1	0	0	0	0	0	0	0	1	8285	1103	39	1		1	KIF1C	17	4923836	Silent	SNP	G	TCGA-29-2429-01A-01D-1526-09	3286984	4923836	76271374	65	19583											
DRG2	1819	genome.wustl.edu	37	17	18003900	18003900	+	Silent	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr17:18003900C>A	ENST00000225729.3	+	7	696	c.558C>A	c.(556-558)ggC>ggA	p.G186G	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Silent_p.G186G	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	186	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					AAGGTGGTGGCATCTCCTTTA	0.557																																																0			17											95	83	87					17																	18003900		2203	4300	6503	17944625	SO:0001819	synonymous_variant	1819			X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"developmentally regulated GTP-binding protein 2"			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.558C>A	17.37:g.18003900C>A			17944625	B2R8G5|Q53Y50|Q9BWB2	Silent	SNP	ENST00000225729.3	37	CCDS11191.1																																																																																				0.557	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		A	18003900	C	A	18003900	2	1	357	1	0	0	0	0	0	0	0	1	4762	697	25	3		3	DRG2	17	18003900	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09	13080064	18003900	63191310	66	19584											
LLGL1	3996	genome.wustl.edu	37	17	18139976	18139976	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr17:18139976C>T	ENST00000316843.4	+	12	1504	c.1408C>T	c.(1408-1410)Ctc>Ttc	p.L470F		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	470					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTGCGGCCGCTCTATAAGCT	0.657																																																0			17											48	46	47					17																	18139976		2203	4300	6503	18080701	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1408C>T	17.37:g.18139976C>T	ENSP00000321537:p.Leu470Phe		18080701	A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968713	0.74131	.	.	ENSG00000131899	ENST00000316843	T	0.32023	1.47	5.91	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.121009	0.56097	D	0.000028	T	0.56949	0.2020	M	0.90595	3.13	0.43667	D	0.996098	D	0.65815	0.995	P	0.60345	0.873	T	0.65776	-0.6086	10	0.87932	D	0	-36.9478	10.9542	0.47347	0.0:0.8496:0.0:0.1504	.	470	Q15334	L2GL1_HUMAN	F	470	ENSP00000321537:L470F	ENSP00000321537:L470F	L	+	1	0	LLGL1	18080701	0.979000	0.34478	0.077000	0.20336	0.973000	0.67179	2.534000	0.45676	1.525000	0.49052	0.655000	0.94253	CTC		0.657	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			T	18139976	C	T	18139976	3	4	357	1	0	0	0	0	1	0	0	0	8833	797	28	2	1454	2	LLGL1	17	18139976	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09	136076	18139976	63055234	67	19585											
SLC14A2	8170	genome.wustl.edu	37	18	43223964	43223964	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr18:43223964C>G	ENST00000255226.6	+	10	2006	c.1190C>G	c.(1189-1191)cCa>cGa	p.P397R	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P397R|RP11-116O18.1_ENST00000590535.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	397					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCGTGCCACCAGGCACCTGG	0.567																																																0			18											146	144	145					18																	43223964		2203	4300	6503	41477962	SO:0001583	missense	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1190C>G	18.37:g.43223964C>G	ENSP00000255226:p.Pro397Arg		41477962	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594780	0.66219	.	.	ENSG00000132874	ENST00000255226	T	0.51071	0.72	5.56	4.7	0.59300	.	0.551643	0.19293	N	0.117860	T	0.47911	0.1471	M	0.65975	2.015	0.54753	D	0.999988	B	0.33826	0.427	B	0.37198	0.243	T	0.51419	-0.8708	10	0.72032	D	0.01	-0.0736	9.169	0.37069	0.0:0.7923:0.0:0.2077	.	397	Q15849	UT2_HUMAN	R	397	ENSP00000255226:P397R	ENSP00000255226:P397R	P	+	2	0	SLC14A2	41477962	0.084000	0.21492	0.757000	0.31301	0.995000	0.86356	2.932000	0.48940	1.367000	0.46095	0.655000	0.94253	CCA		0.567	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			G	43223964	C	G	43223964	3	3	357	1	0	0	0	0	1	0	0	0	14400	594	21	3	1224	3	SLC14A2	18	43223964	Missense_Mutation	SNP	C	TCGA-29-2429-01A-01D-1526-09		43223964	34853284	68	19586											
BRD4	23476	genome.wustl.edu	37	19	15366124	15366124	+	Silent	SNP	C	C	T			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr19:15366124C>T	ENST00000263377.2	-	10	2252	c.2031G>A	c.(2029-2031)aaG>aaA	p.K677K	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Silent_p.K677K|BRD4_ENST00000371835.4_Silent_p.K677K	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	677	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTTTCCTTTTCTTCCGCAAAC	0.542			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0			19											52	52	52					19																	15366124		2203	4300	6503	15227124	SO:0001819	synonymous_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2031G>A	19.37:g.15366124C>T			15227124	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	CCDS12328.1																																																																																				0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		T	15366124	C	T	15366124	2	4	357	1	0	0	0	0	0	0	0	1	1504	912	32	2		2	BRD4	19	15366124	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09		15366124	43762859	69	19587											
GPATCH1	55094	genome.wustl.edu	37	19	33608855	33608855	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr19:33608855G>C	ENST00000170564.2	+	16	2635	c.2321G>C	c.(2320-2322)gGt>gCt	p.G774A		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	774					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GATGAGCAAGGTGACAGTGAA	0.537																																					Pancreas(67;88 1713 4567 18227)											0			19											96	83	87					19																	33608855		2203	4300	6503	38300695	SO:0001583	missense	55094			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2321G>C	19.37:g.33608855G>C	ENSP00000170564:p.Gly774Ala		38300695	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.545384	0.00142	.	.	ENSG00000076650	ENST00000170564	T	0.10668	2.85	4.81	1.47	0.22746	.	0.629219	0.17476	N	0.172915	T	0.05593	0.0147	L	0.29908	0.895	0.09310	N	1	B;B	0.30406	0.07;0.278	B;B	0.22386	0.035;0.039	T	0.40553	-0.9557	10	0.10636	T	0.68	-7.0076	6.0958	0.20019	0.494:0.0:0.506:0.0	.	774;774	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	A	774	ENSP00000170564:G774A	ENSP00000170564:G774A	G	+	2	0	GPATCH1	38300695	0.163000	0.22920	0.030000	0.17652	0.008000	0.06430	1.285000	0.33261	0.523000	0.28482	-0.222000	0.12452	GGT		0.537	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		C	33608855	G	C	33608855	3	2	357	1	0	0	0	0	1	0	0	0	6590	1261	44	3	2383	3	GPATCH1	19	33608855	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	18242731	33608855	25520128	70	19588											
PRKD2	25865	genome.wustl.edu	37	19	47197271	47197271	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr19:47197271G>A	ENST00000291281.4	-	10	1662	c.1437C>T	c.(1435-1437)ggC>ggT	p.G479G	PRKD2_ENST00000595515.1_Silent_p.G479G|PRKD2_ENST00000600194.1_Silent_p.G322G|PRKD2_ENST00000433867.1_Silent_p.G479G|PRKD2_ENST00000601806.1_Silent_p.G322G			Q9BZL6	KPCD2_HUMAN	protein kinase D2	479	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CAGGCATCTCGCCCACGAAGT	0.677																																																0			19											62	52	56					19																	47197271		2203	4300	6503	51889111	SO:0001819	synonymous_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1437C>T	19.37:g.47197271G>A			51889111	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	CCDS12689.1																																																																																				0.677	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		A	47197271	G	A	47197271	2	1	357	1	0	0	0	0	0	0	0	1	12522	1074	38	1		1	PRKD2	19	47197271	Silent	SNP	G	TCGA-29-2429-01A-01D-1526-09	13588416	47197271	11931712	71	19589											
NKX2-4	644524	genome.wustl.edu	37	20	21376927	21376927	+	Silent	SNP	C	C	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr20:21376927C>A	ENST00000351817.4	-	2	1315	c.687G>T	c.(685-687)acG>acT	p.T229T	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	229					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CCTGCGTGGGCGTCAGGTGGA	0.652																																																0			20											39	38	38					20																	21376927		2203	4299	6502	21324927	SO:0001819	synonymous_variant	644524				CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"Homeoboxes / ANTP class : NKL subclass"	7837	protein-coding gene	gene with protein product		607808	"NK-2 (Drosophila) homolog D", "NK2 transcription factor related, locus 4 (Drosophila)"	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.687G>T	20.37:g.21376927C>A			21324927	Q5VZV8	Silent	SNP	ENST00000351817.4	37	CCDS42855.1																																																																																				0.652	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			A	21376927	C	A	21376927	2	1	357	1	0	0	0	0	0	0	0	1	10452	755	27	3		3	NKX2-4	20	21376927	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09		21376927	41648593	72	19590											
SUN5	140732	genome.wustl.edu	37	20	31590698	31590698	+	Silent	SNP	G	G	A			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr20:31590698G>A	ENST00000356173.3	-	2	197	c.105C>T	c.(103-105)agC>agT	p.S35S	SUN5_ENST00000375523.3_Silent_p.S35S|SUN5_ENST00000375519.2_Silent_p.S35S	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	35					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTGCCATCCTGCTGGTGTTCC	0.522																																																0			20											125	116	119					20																	31590698		2203	4300	6503	31054359	SO:0001819	synonymous_variant	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.105C>T	20.37:g.31590698G>A			31054359	A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	CCDS13209.1																																																																																				0.522	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		A	31590698	G	A	31590698	2	1	357	1	0	0	0	0	0	0	0	1	15394	1310	46	2		2	SUN5	20	31590698	Silent	SNP	G	TCGA-29-2429-01A-01D-1526-09	10213771	31590698	31434822	73	19591											
C20orf118	140711	genome.wustl.edu	37	20	35509093	35509093	+	Silent	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr20:35509093C>G	ENST00000217320.3	+	4	422	c.378C>G	c.(376-378)ctC>ctG	p.L126L	TLDC2_ENST00000602922.1_Silent_p.L126L	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	126	TLD.																CTATCCGACTCAGCAAAGGCT	0.552																																																0			20											168	144	152					20																	35509093		2203	4300	6503	34942507	SO:0001819	synonymous_variant	140711			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"hypothetical protein LOC140711", "TLD domain containing 2"		"chromosome 20 open reading frame 118"	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.378C>G	20.37:g.35509093C>G			34942507	B3KVU8	Silent	SNP	ENST00000217320.3	37	CCDS33465.1																																																																																				0.552	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		G	35509093	C	G	35509093	2	3	357	1	0	0	0	0	0	0	0	1	2084	813	29	3		3	C20orf118	20	35509093	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09	3918395	35509093	27516427	74	19592											
TSHZ2	128553	genome.wustl.edu	37	20	51873061	51873061	+	Missense_Mutation	SNP	G	G	A	rs200855096		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr20:51873061G>A	ENST00000371497.5	+	2	3951	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E1019K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E1019K|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1022					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E1022K(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAGTCACCCGAACACCATTC	0.463																																																1	Substitution - Missense(1)	skin(1)	20											130	122	125					20																	51873061		2203	4300	6503	51306468	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3064G>A	20.37:g.51873061G>A	ENSP00000360552:p.Glu1022Lys		51306468	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125562	0.94429	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.21543	2.01;2.0	5.53	5.53	0.82687	Zinc finger, C2H2 (1);	0.047315	0.85682	D	0.000000	T	0.47395	0.1443	M	0.80028	2.48	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	T	0.51710	-0.8671	10	0.87932	D	0	-30.2972	19.4601	0.94914	0.0:0.0:1.0:0.0	.	1022	Q9NRE2	TSH2_HUMAN	K	1022;1019	ENSP00000360552:E1022K;ENSP00000333114:E1019K	ENSP00000333114:E1019K	E	+	1	0	TSHZ2	51306468	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.470000	0.97683	2.603000	0.88011	0.643000	0.83706	GAA		0.463	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		A	51873061	G	A	51873061	3	1	357	1	0	0	0	0	1	0	0	0	16624	1059	37	1	3070	1	TSHZ2	20	51873061	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	16363968	51873061	11152459	75	19593											
KCNE1	3753	genome.wustl.edu	37	21	35821633	35821633	+	Silent	SNP	C	C	G			TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr21:35821633C>G	ENST00000337385.3	-	3	675	c.300G>C	c.(298-300)ctG>ctC	p.L100L	KCNE1_ENST00000399286.2_Silent_p.L100L|KCNE1_ENST00000399289.3_Silent_p.L100L|KCNE1_ENST00000416357.2_Silent_p.L100L|KCNE1_ENST00000432085.1_Silent_p.L100L|KCNE1_ENST00000399284.1_Silent_p.L100L	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	100					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TGTAGCTCTCCAGGACCCGGG	0.557																																																0			21											111	118	115					21																	35821633		2203	4300	6503	34743503	SO:0001819	synonymous_variant	3753			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"Potassium channels"	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.300G>C	21.37:g.35821633C>G			34743503	A5H1P2|Q8N709|Q91Z94	Silent	SNP	ENST00000337385.3	37	CCDS13636.1																																																																																				0.557	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			G	35821633	C	G	35821633	2	3	357	1	0	0	0	0	0	0	0	1	8021	581	21	3		3	KCNE1	21	35821633	Silent	SNP	C	TCGA-29-2429-01A-01D-1526-09		35821633	12308262	76	19594											
GSC2	2928	genome.wustl.edu	37	22	19137290	19137290	+	Missense_Mutation	SNP	G	G	C	rs201641909	byFrequency	TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chr22:19137290G>C	ENST00000086933.2	-	2	398	c.399C>G	c.(397-399)ttC>ttG	p.F133L		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	133					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					GCTCTTCGCTGAAGATGGTGC	0.716																																																0			22											8	10	10					22																	19137290		2110	4174	6284	17517290	SO:0001583	missense	2928				CCDS13757.1	22q11.21	2011-06-20	2007-08-28	2007-08-28	ENSG00000063515	ENSG00000063515		"Homeoboxes / PRD class"	4613	protein-coding gene	gene with protein product		601845	"goosecoid-like"	GSCL		9150167	Standard	NM_005315		Approved		uc011ags.2	O15499	OTTHUMG00000150122	ENST00000086933.2:c.399C>G	22.37:g.19137290G>C	ENSP00000086933:p.Phe133Leu		17517290		Missense_Mutation	SNP	ENST00000086933.2	37	CCDS13757.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.225362	0.79576	.	.	ENSG00000063515	ENST00000086933	D	0.97041	-4.22	4.55	3.53	0.40419	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.80616	2.505	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.97833	1.0264	10	0.87932	D	0	-17.8773	8.9852	0.35990	0.1754:0.0:0.8246:0.0	.	133	O15499	GSC2_HUMAN	L	133	ENSP00000086933:F133L	ENSP00000086933:F133L	F	-	3	2	GSC2	17517290	.	.	1.000000	0.80357	0.734000	0.41952	.	.	1.027000	0.39758	0.450000	0.29827	TTC		0.716	GSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316440.2	NM_005315		C	19137290	G	C	19137290	3	2	357	1	0	0	0	0	1	0	0	0	6815	1281	45	3	225	3	GSC2	22	19137290	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09		19137290	32167276	77	19595											
DMD	1756	genome.wustl.edu	37	X	31187671	31187671	+	Missense_Mutation	SNP	T	T	C	rs368594777		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chrX:31187671T>C	ENST00000357033.4	-	74	10648	c.10442A>G	c.(10441-10443)cAg>cGg	p.Q3481R	DMD_ENST00000378680.2_Intron|DMD_ENST00000378702.4_Missense_Mutation_p.Q413R|DMD_ENST00000343523.2_Intron|DMD_ENST00000541735.1_Intron|DMD_ENST00000474231.1_Missense_Mutation_p.Q1021R|DMD_ENST00000378707.3_Missense_Mutation_p.Q1021R|DMD_ENST00000359836.1_Missense_Mutation_p.Q1008R|DMD_ENST00000378723.3_Missense_Mutation_p.Q413R|DMD_ENST00000378677.2_Missense_Mutation_p.Q3477R|DMD_ENST00000361471.4_Missense_Mutation_p.Q400R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3481	Binds to SNTB1.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGGGGAGTCCTGGTTCAAACT	0.448																																																0			X						T	ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,,	0,3833		0,0,1631,571	51	45	47		10418,10442,10073,10430,10073,6419,6410,3062,2255,1238,1238,1199,1199,3062,3023,,	5.3	1	X		47	1,6727		0,1,2427,1872	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,intron,intron	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004014.2,NM_004015.2,NM_004016.2,NM_004017.2,NM_004018.2,NM_004021.2,NM_004022.2,NM_004020.3,NM_004023.2	43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,,	0,1,4058,2443	CC,CT,TT,T		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,,	3473/3678,3481/3686,3358/3563,3477/3682,3358/3563,2140/2345,2137/2342,1021/1226,752/957,413/618,413/636,400/605,400/623,1021/1244,1008/1231,,	31187671	1,10560	2202	4300	6502	31097592	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10442A>G	X.37:g.31187671T>C	ENSP00000354923:p.Gln3481Arg		31097592	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820363	0.71028	0.0	1.49E-4	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000378702;ENST00000474231;ENST00000361471	D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.29	5.29	0.74685	.	0.000000	0.35615	U	0.003095	D	0.83358	0.5237	L	0.29908	0.895	0.80722	D	1	B;P;P;D;D;B;B;B;P;D;B;B;P	0.59357	0.037;0.842;0.842;0.985;0.985;0.13;0.08;0.08;0.508;0.957;0.002;0.001;0.92	B;B;B;P;P;B;B;B;B;B;B;B;B	0.59221	0.06;0.236;0.236;0.854;0.854;0.039;0.017;0.017;0.171;0.392;0.003;0.003;0.138	T	0.82476	-0.0438	9	.	.	.	.	14.3298	0.66548	0.0:0.0:0.0:1.0	.	3473;3481;3477;2140;2137;1008;1021;1021;3358;400;413;400;413	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.	R	3473;2140;2137;413;1164;3477;3481;1008;3481;3358;1021;413;1021;400	ENSP00000367997:Q413R;ENSP00000350765:Q1164R;ENSP00000367948:Q3477R;ENSP00000354923:Q3481R;ENSP00000352894:Q1008R;ENSP00000367979:Q1021R;ENSP00000367974:Q413R;ENSP00000417123:Q1021R;ENSP00000354464:Q400R	.	Q	-	2	0	DMD	31097592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.127000	0.71642	1.960000	0.56953	0.481000	0.45027	CAG		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	31187671	T	C	31187671	3	2	357	1	0	0	0	0	1	0	0	0	4580	1580	55	4	725	4	DMD	23	31187671	Missense_Mutation	SNP	T	TCGA-29-2429-01A-01D-1526-09		31187671	124082889	78	19596											
RNF128	79589	genome.wustl.edu	37	X	106016295	106016295	+	Missense_Mutation	SNP	G	G	C	rs368852768		TCGA-29-2429-01A-01D-1526-09	TCGA-29-2429-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3780ee50-4398-4e65-8d5e-4facca800051	eba71276-f166-4844-ad3e-cfae95a56378	g.chrX:106016295G>C	ENST00000255499.2	+	2	887	c.637G>C	c.(637-639)Gtg>Ctg	p.V213L	RNF128_ENST00000324342.3_Missense_Mutation_p.V187L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	213					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTCGTTTCTGTGTCCTTTTT	0.403																																																0			X											197	158	171					X																	106016295		2203	4300	6503	105902951	SO:0001583	missense	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.637G>C	X.37:g.106016295G>C	ENSP00000255499:p.Val213Leu		105902951	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367773	0.61513	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.30714	1.52;2.91;2.72	5.83	5.83	0.93111	.	0.062017	0.64402	D	0.000003	T	0.44685	0.1305	M	0.67397	2.05	0.44092	D	0.996859	B;B	0.34313	0.191;0.448	B;B	0.43478	0.145;0.421	T	0.36890	-0.9729	10	0.54805	T	0.06	.	17.4685	0.87639	0.0:0.0:1.0:0.0	.	213;187	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	L	160;187;213	ENSP00000412610:V160L;ENSP00000316127:V187L;ENSP00000255499:V213L	ENSP00000255499:V213L	V	+	1	0	RNF128	105902951	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.076000	0.64413	2.445000	0.82738	0.513000	0.50165	GTG		0.403	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		C	106016295	G	C	106016295	3	2	357	1	0	0	0	0	1	0	0	0	13439	1377	48	3	1053	3	RNF128	23	106016295	Missense_Mutation	SNP	G	TCGA-29-2429-01A-01D-1526-09	74828624	106016295	49254265	79	19597											
SLFNL1	200172	genome.wustl.edu	37	1	41486001	41486001	+	Missense_Mutation	SNP	C	C	T	rs368949883		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:41486001C>T	ENST00000359345.1	-	1	2908	c.332G>A	c.(331-333)cGc>cAc	p.R111H	SLFNL1_ENST00000439569.2_Missense_Mutation_p.R111H|SLFNL1_ENST00000372611.1_Missense_Mutation_p.R111H|SLFNL1_ENST00000302946.8_Missense_Mutation_p.R111H|SLFNL1_ENST00000372613.2_Missense_Mutation_p.R111H|SLFNL1_ENST00000397197.2_Missense_Mutation_p.R111H	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	111							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CGTCTGCAGGCGCCAGGGGAG	0.657																																																0			1						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	51	55	54		332,332	2.6	1	1		54	0,8600		0,0,4300	no	missense,missense	SLFNL1	NM_001168247.1,NM_144990.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	111/408,111/408	41486001	1,13005	2203	4300	6503	41258588	SO:0001583	missense	200172			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.332G>A	1.37:g.41486001C>T	ENSP00000352299:p.Arg111His		41258588	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	CCDS460.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622321	0.46840	2.27E-4	0.0	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.8	2.56	0.30785	.	0.363325	0.24786	N	0.035617	T	0.40145	0.1105	L	0.53249	1.67	0.33140	D	0.544298	P;B;P	0.44006	0.824;0.414;0.73	B;B;B	0.31101	0.124;0.034;0.034	T	0.56202	-0.8018	10	0.72032	D	0.01	-36.6241	3.0905	0.06293	0.2106:0.5497:0.0:0.2398	.	111;111;111	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	H	111	ENSP00000304401:R111H;ENSP00000361696:R111H;ENSP00000361694:R111H;ENSP00000352299:R111H;ENSP00000398938:R111H;ENSP00000380381:R111H	ENSP00000304401:R111H	R	-	2	0	SLFNL1	41258588	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	1.699000	0.37804	0.791000	0.33826	0.561000	0.74099	CGC		0.657	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		T	41486001	C	T	41486001	3	4	358	1	0	0	0	0	1	0	0	0	14741	768	27	1	907	1	SLFNL1	1	41486001	Missense_Mutation	SNP	C	TCGA-29-2431-01A-01D-1526-09		41486001	207764620	1	19598											
TNNI3K	100144878	genome.wustl.edu	37	1	74957819	74957819	+	Intron	SNP	C	C	T			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:74957819C>T	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_Silent_p.L854L|TNNI3K_ENST00000370891.2_Silent_p.L841L|TNNI3K_ENST00000326637.3_Silent_p.L740L			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						GTGGGTCTCTCTCACCTTCTT	0.468																																																0			1											203	204	204					1																	74957819		2203	4300	6503	74730407	SO:0001627	intron_variant	51086					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8760G>A	1.37:g.74957819C>T			74730407		Silent	SNP	ENST00000294635.4	37																																																																																					0.468	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			T	74957819	C	T	74957819	1	4	358	0	1	0	0	0	0	0	0	0	16329	900	32	2		2	TNNI3K	1	74957819	Intron	SNP	C	TCGA-29-2431-01A-01D-1526-09	33471818	74957819	174292802	2	19599											
IFI16	3428	genome.wustl.edu	37	1	159021646	159021646	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:159021646G>A	ENST00000295809.7	+	10	2098	c.1843G>A	c.(1843-1845)Gtt>Att	p.V615I	IFI16_ENST00000430894.2_Missense_Mutation_p.V563I|IFI16_ENST00000368132.3_Missense_Mutation_p.V559I|IFI16_ENST00000448393.2_Missense_Mutation_p.V503I|IFI16_ENST00000368131.4_Missense_Mutation_p.V559I|IFI16_ENST00000359709.3_Missense_Mutation_p.V559I|IFI16_ENST00000340979.6_Missense_Mutation_p.V503I			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	615	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CCGAGTGAAGGTTTTTAATAT	0.418																																																0			1											102	103	103					1																	159021646		2203	4300	6503	157288270	SO:0001583	missense	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1843G>A	1.37:g.159021646G>A	ENSP00000295809:p.Val615Ile		157288270	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37		.	.	.	.	.	.	.	.	.	.	G	13.25	2.180832	0.38511	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	4.85	3.95	0.45737	.	.	.	.	.	T	0.23054	0.0557	M	0.62723	1.935	0.21290	N	0.999734	P;P;P	0.48589	0.532;0.83;0.912	B;B;P	0.52793	0.43;0.219;0.709	T	0.07046	-1.0793	9	0.87932	D	0	.	8.9588	0.35834	0.1002:0.0:0.8998:0.0	.	563;503;559	E7EPR3;Q16666-3;Q16666-2	.;.;.	I	615;503;559;559;563	ENSP00000295809:V615I;ENSP00000342741:V503I;ENSP00000357113:V559I;ENSP00000357114:V559I;ENSP00000394935:V563I	ENSP00000295809:V615I	V	+	1	0	IFI16	157288270	0.999000	0.42202	0.991000	0.47740	0.127000	0.20565	1.463000	0.35277	1.265000	0.44215	0.609000	0.83330	GTT		0.418	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		A	159021646	G	A	159021646	3	1	358	1	0	0	0	0	1	0	0	0	7511	1261	44	2	1705	2	IFI16	1	159021646	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09	84063827	159021646	90228975	3	19600											
RFWD2	64326	genome.wustl.edu	37	1	175956112	175956112	+	Silent	SNP	A	A	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:175956112A>G	ENST00000367669.3	-	18	2614	c.2100T>C	c.(2098-2100)gtT>gtC	p.V700V	RFWD2_ENST00000308769.8_Silent_p.V676V	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	700					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACACAGCACTAACAAATTCAT	0.363																																					Ovarian(134;1413 1765 5706 35534 51541)											0			1											114	104	107					1																	175956112		2203	4300	6503	174222735	SO:0001819	synonymous_variant	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.2100T>C	1.37:g.175956112A>G			174222735	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	CCDS30944.1																																																																																				0.363	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		G	175956112	A	G	175956112	2	3	358	1	0	0	0	0	0	0	0	1	13263	349	13	4		4	RFWD2	1	175956112	Silent	SNP	A	TCGA-29-2431-01A-01D-1526-09	16934466	175956112	73294509	4	19601											
C1orf186	440712	genome.wustl.edu	37	1	206241636	206241636	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr1:206241636C>G	ENST00000331555.5	-	4	791	c.153G>C	c.(151-153)caG>caC	p.Q51H		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	51						integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCCTGGGAACCTGGAGACTGG	0.547																																																0			1											72	72	72					1																	206241636		2203	4300	6503	204408259	SO:0001583	missense	440712			AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.153G>C	1.37:g.206241636C>G	ENSP00000356093:p.Gln51His		204408259		Missense_Mutation	SNP	ENST00000331555.5	37	CCDS30995.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784996	0.31593	.	.	ENSG00000196533	ENST00000331555	.	.	.	2.91	1.99	0.26369	.	.	.	.	.	T	0.32882	0.0844	L	0.34521	1.04	0.09310	N	1	D	0.54207	0.965	P	0.50192	0.634	T	0.12142	-1.0559	8	0.87932	D	0	-0.6173	5.8835	0.18868	0.0:0.8532:0.0:0.1468	.	51	Q6ZWK4	CA186_HUMAN	H	51	.	ENSP00000356093:Q51H	Q	-	3	2	C1orf186	204408259	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.190000	0.17057	0.786000	0.33708	0.563000	0.77884	CAG		0.547	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		G	206241636	C	G	206241636	3	3	358	1	0	0	0	0	1	0	0	0	2020	680	24	3	377	3	C1orf186	1	206241636	Missense_Mutation	SNP	C	TCGA-29-2431-01A-01D-1526-09	30285524	206241636	43008985	5	19602											
ASPRV1	151516	genome.wustl.edu	37	2	70188517	70188517	+	Missense_Mutation	SNP	C	C	T	rs149847323		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr2:70188517C>T	ENST00000320256.4	-	1	880	c.304G>A	c.(304-306)Gtc>Atc	p.V102I	PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGTTCCGGGACGAAGGCATGC	0.582													C|||	1	0.000199681	0	0	5008	,	,		17585	0		0.001	False		,,,				2504	0															0			2						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	55	51	52		304	-7.2	0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ASPRV1	NM_152792.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	102/344	70188517	2,13004	2203	4300	6503	70042021	SO:0001583	missense	151516			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.304G>A	2.37:g.70188517C>T	ENSP00000315383:p.Val102Ile		70042021		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.214	-1.034049	0.02029	2.27E-4	1.16E-4	ENSG00000244617	ENST00000320256	T	0.46451	0.87	5.72	-7.24	0.01475	.	1.093400	0.07229	N	0.862191	T	0.23289	0.0563	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25882	-1.0119	10	0.34782	T	0.22	-10.5204	8.1028	0.30868	0.0:0.1998:0.2106:0.5896	.	102	Q53RT3	APRV1_HUMAN	I	102	ENSP00000315383:V102I	ENSP00000315383:V102I	V	-	1	0	ASPRV1	70042021	0.000000	0.05858	0.017000	0.16124	0.047000	0.14425	-2.503000	0.00965	-1.063000	0.03177	-0.812000	0.03155	GTC		0.582	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		T	70188517	C	T	70188517	3	4	358	1	0	0	0	0	1	0	0	0	1058	536	19	1	731	1	ASPRV1	2	70188517	Missense_Mutation	SNP	C	TCGA-29-2431-01A-01D-1526-09		70188517	173010856	6	19603											
CERKL	375298	genome.wustl.edu	37	2	182409449	182409449	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr2:182409449C>G	ENST00000339098.5	-	12	1420	c.1421G>C	c.(1420-1422)aGa>aCa	p.R474T	CERKL_ENST00000410087.3_Missense_Mutation_p.R448T|CERKL_ENST00000374970.2_Missense_Mutation_p.R379T|CERKL_ENST00000374969.2_Missense_Mutation_p.R335T|CERKL_ENST00000479558.1_5'Flank|CERKL_ENST00000409440.3_Missense_Mutation_p.R430T			Q49MI3	CERKL_HUMAN	ceramide kinase-like	474					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACTGGCATATCTTTTCAGGTG	0.299																																																0			2											61	62	62					2																	182409449		2201	4294	6495	182117694	SO:0001583	missense	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1421G>C	2.37:g.182409449C>G	ENSP00000341159:p.Arg474Thr		182117694	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318820	0.95682	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.98	5.98	0.97165	.	0.046796	0.85682	D	0.000000	T	0.38719	0.1051	M	0.80982	2.52	0.58432	D	0.999998	D;D;D;D;D	0.67145	0.996;0.989;0.983;0.994;0.99	P;P;P;P;P	0.60117	0.835;0.852;0.755;0.869;0.758	T	0.02484	-1.1152	10	0.33141	T	0.24	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	430;335;379;448;474	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	T	448;430;335;474;379	ENSP00000386725:R448T;ENSP00000387080:R430T;ENSP00000364108:R335T;ENSP00000341159:R474T;ENSP00000364109:R379T	ENSP00000341159:R474T	R	-	2	0	CERKL	182117694	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.459000	0.80802	2.838000	0.97847	0.655000	0.94253	AGA		0.299	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			G	182409449	C	G	182409449	3	3	358	1	0	0	0	0	1	0	0	0	3268	913	32	3	267	3	CERKL	2	182409449	Missense_Mutation	SNP	C	TCGA-29-2431-01A-01D-1526-09	112220932	182409449	60789924	7	19604											
SPAG16	79582	genome.wustl.edu	37	2	214794702	214794702	+	Silent	SNP	T	T	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr2:214794702T>C	ENST00000331683.5	+	12	1328	c.1233T>C	c.(1231-1233)acT>acC	p.T411T	SPAG16_ENST00000374309.3_Silent_p.T317T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	411					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AATTGGCTACTTCAAGTGGTG	0.378																																																0			2											108	107	107					2																	214794702		2203	4300	6503	214502947	SO:0001819	synonymous_variant	79582			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1233T>C	2.37:g.214794702T>C			214502947	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	CCDS2396.1																																																																																				0.378	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		C	214794702	T	C	214794702	2	2	358	1	0	0	0	0	0	0	0	1	14981	1596	56	4		4	SPAG16	2	214794702	Silent	SNP	T	TCGA-29-2431-01A-01D-1526-09	32385253	214794702	28404671	8	19605											
SP100	6672	genome.wustl.edu	37	2	231371031	231371031	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr2:231371031G>C	ENST00000264052.5	+	22	2239	c.1884G>C	c.(1882-1884)aaG>aaC	p.K628N	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.K628N|SP100_ENST00000340126.4_Missense_Mutation_p.K628N	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	628	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTCAAAGAAGTGTATACAGA	0.512																																																0			2											74	75	75					2																	231371031		2203	4300	6503	231079275	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1884G>C	2.37:g.231371031G>C	ENSP00000264052:p.Lys628Asn		231079275	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.757400|2.757400	0.49468|0.49468	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648|ENST00000431952	T;T;T|.	0.68479|.	-0.33;-0.33;-0.33|.	4.74|4.74	3.85|3.85	0.44370|0.44370	SAND domain-like (2);SAND domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.67458|0.67458	0.2895|0.2895	M|M	0.90870|0.90870	3.155|3.155	0.20873|0.20873	N|N	0.999836|0.999836	D;D;D|.	0.67145|.	0.98;0.996;0.99|.	P;D;D|.	0.67382|.	0.814;0.951;0.947|.	T|T	0.61505|0.61505	-0.7049|-0.7049	9|5	0.87932|.	D|.	0|.	.|.	10.3048|10.3048	0.43674|0.43674	0.0:0.0:0.803:0.197|0.0:0.0:0.803:0.197	.|.	628;628;628|.	P23497-4;P23497;E7EUA7|.	.;SP100_HUMAN;.|.	N|L	628;628;628;111|15	ENSP00000264052:K628N;ENSP00000386427:K628N;ENSP00000343023:K628N|.	ENSP00000264052:K628N|.	K|V	+|+	3|1	2|0	SP100|SP100	231079275|231079275	0.848000|0.848000	0.29623|0.29623	0.002000|0.002000	0.10522|0.10522	0.072000|0.072000	0.16883|0.16883	1.427000|1.427000	0.34881|0.34881	1.317000|1.317000	0.45149|0.45149	0.655000|0.655000	0.94253|0.94253	AAG|GTG		0.512	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		C	231371031	G	C	231371031	3	2	358	1	0	0	0	0	1	0	0	0	14963	1020	36	3	1970	3	SP100	2	231371031	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09	16576329	231371031	11828342	9	19606											
IFT57	55081	genome.wustl.edu	37	3	107938387	107938387	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr3:107938387T>G	ENST00000264538.3	-	2	492	c.245A>C	c.(244-246)gAa>gCa	p.E82A		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	82					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			GTAGAACTGTTCGCCAGGGTT	0.408																																																0			3											97	92	94					3																	107938387		2203	4300	6503	109421077	SO:0001583	missense	55081			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"Intraflagellar transport homologs"	17367	protein-coding gene	gene with protein product		606621	"estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)"	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.245A>C	3.37:g.107938387T>G	ENSP00000264538:p.Glu82Ala		109421077	Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	T	32	5.113693	0.94339	.	.	ENSG00000114446	ENST00000264538;ENST00000492106	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82155	-0.0597	9	0.72032	D	0.01	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	82	Q9NWB7	IFT57_HUMAN	A	82;113	.	ENSP00000264538:E82A	E	-	2	0	IFT57	109421077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.841000	0.86834	2.371000	0.80710	0.533000	0.62120	GAA		0.408	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		G	107938387	T	G	107938387	3	3	358	1	0	0	0	0	1	0	0	0	7562	1783	62	5	1084	5	IFT57	3	107938387	Missense_Mutation	SNP	T	TCGA-29-2431-01A-01D-1526-09		107938387	90084043	10	19607											
IFT122	55764	genome.wustl.edu	37	3	129238543	129238543	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr3:129238543G>A	ENST00000348417.2	+	29	3681	c.3604G>A	c.(3604-3606)Gcc>Acc	p.A1202T	IFT122_ENST00000504021.1_Missense_Mutation_p.A1079T|IFT122_ENST00000347300.2_Missense_Mutation_p.A1143T|IFT122_ENST00000296266.3_Missense_Mutation_p.A1253T|IFT122_ENST00000431818.2_Missense_Mutation_p.A1052T|IFT122_ENST00000349441.2_Missense_Mutation_p.A1092T|IFT122_ENST00000507564.1_Missense_Mutation_p.A1195T|IFT122_ENST00000440957.2_Missense_Mutation_p.A993T	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1202					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCTGCCTGACGCCTCCATTAC	0.617																																																0			3											138	111	120					3																	129238543		2203	4300	6503	130721233	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3604G>A	3.37:g.129238543G>A	ENSP00000324005:p.Ala1202Thr		130721233	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100857	0.37048	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.60424	0.83;0.19;0.32;0.38;0.97;0.97;0.83;0.39	5.97	5.1	0.69264	.	0.113396	0.64402	D	0.000006	T	0.44705	0.1306	L	0.36672	1.1	0.41605	D	0.988874	B;P;B;B;B;B;B;B;B;B	0.37688	0.014;0.605;0.07;0.062;0.021;0.037;0.01;0.036;0.008;0.116	B;B;B;B;B;B;B;B;B;B	0.31101	0.008;0.124;0.003;0.027;0.007;0.007;0.007;0.01;0.003;0.008	T	0.49322	-0.8952	10	0.56958	D	0.05	-16.4035	12.1598	0.54098	0.1368:0.0:0.8632:0.0	.	993;528;1195;590;1079;1044;1092;1143;1202;1253	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	T	1143;1253;1195;1052;1079;1092;1202;1044;993	ENSP00000323973:A1143T;ENSP00000296266:A1253T;ENSP00000425536:A1195T;ENSP00000410946:A1052T;ENSP00000422179:A1079T;ENSP00000324165:A1092T;ENSP00000324005:A1202T;ENSP00000401569:A993T	ENSP00000296266:A1253T	A	+	1	0	IFT122	130721233	1.000000	0.71417	0.903000	0.35520	0.459000	0.32528	5.688000	0.68227	1.542000	0.49330	0.655000	0.94253	GCC		0.617	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		A	129238543	G	A	129238543	3	1	358	1	0	0	0	0	1	0	0	0	7555	1087	38	1	3878	1	IFT122	3	129238543	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09	21300156	129238543	68783887	11	19608											
IGSF10	285313	genome.wustl.edu	37	3	151165563	151165563	+	Missense_Mutation	SNP	G	G	A	rs374899455		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr3:151165563G>A	ENST00000282466.3	-	4	2205	c.2206C>T	c.(2206-2208)Cgt>Tgt	p.R736C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	736					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCCTAAAACGTCGATGTGTT	0.483																																																0			3						G	CYS/ARG	0,4406		0,0,2203	81	71	74		2206	2.6	0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGSF10	NM_178822.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	736/2624	151165563	1,13005	2203	4300	6503	152648253	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2206C>T	3.37:g.151165563G>A	ENSP00000282466:p.Arg736Cys		152648253	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656956	0.67586	0.0	1.16E-4	ENSG00000152580	ENST00000282466	T	0.80480	-1.38	5.41	2.59	0.31030	.	0.341401	0.21845	N	0.068277	T	0.77350	0.4117	L	0.34521	1.04	0.09310	N	0.999999	D	0.76494	0.999	P	0.56088	0.791	T	0.67166	-0.5739	10	0.62326	D	0.03	.	6.022	0.19634	0.0656:0.108:0.5111:0.3153	.	736	Q6WRI0	IGS10_HUMAN	C	736	ENSP00000282466:R736C	ENSP00000282466:R736C	R	-	1	0	IGSF10	152648253	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	0.845000	0.27668	0.236000	0.21180	0.591000	0.81541	CGT		0.483	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151165563	G	A	151165563	3	1	358	1	0	0	0	0	1	0	0	0	7597	1145	40	1	5725	1	IGSF10	3	151165563	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09	21927020	151165563	46856867	12	19609											
ANK2	287	genome.wustl.edu	37	4	114203879	114203879	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr4:114203879A>T	ENST00000357077.4	+	18	1983	c.1930A>T	c.(1930-1932)Ata>Tta	p.I644L	ANK2_ENST00000506722.1_Missense_Mutation_p.I623L|ANK2_ENST00000264366.6_Missense_Mutation_p.I644L|ANK2_ENST00000394537.3_Missense_Mutation_p.I644L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	644					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAATGCAGATAGCTTCCAC	0.408																																																0			4											111	94	100					4																	114203879		2203	4300	6503	114423328	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1930A>T	4.37:g.114203879A>T	ENSP00000349588:p.Ile644Leu		114423328	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375584	0.82682	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.68479	-0.33;-0.06;-0.33;-0.33;-0.33;-0.33;-0.33	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000011	T	0.66577	0.2803	L	0.49699	1.58	0.80722	D	1	P;P;B;B;P	0.45569	0.553;0.861;0.078;0.317;0.553	P;P;B;B;P	0.45167	0.466;0.452;0.127;0.193;0.472	T	0.71866	-0.4463	10	0.87932	D	0	.	15.2245	0.73339	1.0:0.0:0.0:0.0	.	644;644;644;623;623	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	L	623;590;623;659;644;644;644;623	ENSP00000423799:I623L;ENSP00000421011:I590L;ENSP00000421067:I623L;ENSP00000424722:I659L;ENSP00000378044:I644L;ENSP00000349588:I644L;ENSP00000264366:I644L	ENSP00000264366:I644L	I	+	1	0	ANK2	114423328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.192000	0.72069	2.031000	0.59945	0.533000	0.62120	ATA		0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114203879	A	T	114203879	3	4	358	1	0	0	0	0	1	0	0	0	621	333	12	5	2025	5	ANK2	4	114203879	Missense_Mutation	SNP	A	TCGA-29-2431-01A-01D-1526-09		114203879	76950397	13	19610											
AFF4	27125	genome.wustl.edu	37	5	132222026	132222026	+	Silent	SNP	T	T	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr5:132222026T>G	ENST00000265343.5	-	18	3454	c.3075A>C	c.(3073-3075)tcA>tcC	p.S1025S		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1025					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGTGTCTTTGAGTACTTCA	0.478																																					Ovarian(126;889 1733 2942 10745 11605)											0			5											165	151	156					5																	132222026		2203	4300	6503	132249925	SO:0001819	synonymous_variant	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.3075A>C	5.37:g.132222026T>G			132249925	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	CCDS4164.1																																																																																				0.478	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		G	132222026	T	G	132222026	2	3	358	1	0	0	0	0	0	0	0	1	359	1799	63	5		5	AFF4	5	132222026	Silent	SNP	T	TCGA-29-2431-01A-01D-1526-09		132222026	48693234	14	19611											
OR12D3	81797	genome.wustl.edu	37	6	29342686	29342686	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr6:29342686G>A	ENST00000396806.3	-	1	382	c.379C>T	c.(379-381)Cct>Tct	p.P127S	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TAGCGAAGAGGATTGCAGATG	0.493																																																0			6											58	59	58					6																	29342686		1509	2709	4218	29450665	SO:0001583	missense	81797				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.379C>T	6.37:g.29342686G>A	ENSP00000380023:p.Pro127Ser		29450665	A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579098	0.46006	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.01838	4.61	4.18	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12178	0.0296	H	0.96015	3.755	0.39707	D	0.971276	D	0.89917	1.0	D	0.97110	1.0	T	0.07347	-1.0777	9	0.87932	D	0	-6.5976	12.911	0.58181	0.0:0.0:0.8357:0.1643	.	127	Q9UGF7	O12D3_HUMAN	S	127	ENSP00000380023:P127S	ENSP00000366348:P127S	P	-	1	0	OR12D3	29450665	1.000000	0.71417	0.904000	0.35570	0.051000	0.14879	7.026000	0.76455	0.940000	0.37473	0.195000	0.17529	CCT		0.493	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			A	29342686	G	A	29342686	3	1	358	1	0	0	0	0	1	0	0	0	10932	1174	41	2	575	2	OR12D3	6	29342686	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09		29342686	141772381	15	19612											
C7orf51	222950	genome.wustl.edu	37	7	100082979	100082979	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr7:100082979C>A	ENST00000300179.2	+	2	204	c.45C>A	c.(43-45)caC>caA	p.H15Q	NYAP1_ENST00000423930.1_Missense_Mutation_p.H15Q|AC092849.1_ENST00000583832.1_RNA|NYAP1_ENST00000454988.1_5'Flank	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	15					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGAGGCAGCACAAGGAAGAGG	0.662																																																0			7											106	87	93					7																	100082979		2197	4292	6489	99920915	SO:0001583	missense	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.45C>A	7.37:g.100082979C>A	ENSP00000300179:p.His15Gln		99920915	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532181	0.45073	.	.	ENSG00000166924	ENST00000300179;ENST00000423930	T;T	0.42900	0.96;0.96	4.63	3.75	0.43078	.	0.000000	0.42964	D	0.000632	T	0.34948	0.0915	N	0.22421	0.69	0.31712	N	0.639406	D	0.56968	0.978	P	0.50537	0.643	T	0.42916	-0.9423	10	0.56958	D	0.05	-6.1427	8.0981	0.30840	0.0:0.8918:0.0:0.1082	.	15	Q6ZVC0	CG051_HUMAN	Q	15	ENSP00000300179:H15Q;ENSP00000411861:H15Q	ENSP00000300179:H15Q	H	+	3	2	C7orf51	99920915	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.188000	0.32102	1.170000	0.42753	0.561000	0.74099	CAC		0.662	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		A	100082979	C	A	100082979	3	1	358	1	0	0	0	0	1	0	0	0	2400	477	17	3	47	3	C7orf51	7	100082979	Missense_Mutation	SNP	C	TCGA-29-2431-01A-01D-1526-09		100082979	59055684	16	19613											
SNTB1	6641	genome.wustl.edu	37	8	121823572	121823572	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr8:121823572G>A	ENST00000395601.3	-	2	926	c.512C>T	c.(511-513)gCc>gTc	p.A171V	SNTB1_ENST00000517992.1_Missense_Mutation_p.A171V|RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	171	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCGTGGGTGGCGTCCCGCAG	0.687																																																0			8											68	70	69					8																	121823572		2202	4298	6500	121892753	SO:0001583	missense	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.512C>T	8.37:g.121823572G>A	ENSP00000378965:p.Ala171Val		121892753	A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	G	36	5.741666	0.96873	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.24538	1.85;1.85	4.84	4.84	0.62591	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.41632	1.29	0.80722	D	1	D;P	0.69078	0.997;0.889	D;P	0.70935	0.971;0.843	T	0.34453	-0.9828	10	0.56958	D	0.05	.	18.3059	0.90180	0.0:0.0:1.0:0.0	.	171;171	Q13884;Q13884-2	SNTB1_HUMAN;.	V	171	ENSP00000378965:A171V;ENSP00000431124:A171V	ENSP00000378965:A171V	A	-	2	0	SNTB1	121892753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.643000	0.98464	2.379000	0.81126	0.561000	0.74099	GCC		0.687	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		A	121823572	G	A	121823572	3	1	358	1	0	0	0	0	1	0	0	0	14875	1203	42	2	1132	2	SNTB1	8	121823572	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09		121823572	24540450	17	19614											
KIAA0196	9897	genome.wustl.edu	37	8	126059566	126059566	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr8:126059566T>C	ENST00000318410.7	-	20	2736	c.2387A>G	c.(2386-2388)gAt>gGt	p.D796G	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D648G|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	796					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCTTTGCCAATCTTGAATCTA	0.348																																																0			8											95	86	89					8																	126059566		2203	4300	6503	126128748	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2387A>G	8.37:g.126059566T>C	ENSP00000318016:p.Asp796Gly		126128748	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.075692|4.075692	0.76415|0.76415	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86497|.	-2.13;-2.13|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74596|0.74596	0.3737|0.3737	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.989;0.997|.	D;D|.	0.79108|.	0.927;0.992|.	T|T	0.75405|0.75405	-0.3329|-0.3329	10|5	0.54805|.	T|.	0.06|.	-22.686|-22.686	15.4301|15.4301	0.75087|0.75087	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	648;796|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	G|V	796;648|413	ENSP00000318016:D796G;ENSP00000429676:D648G|.	ENSP00000318016:D796G|.	D|I	-|-	2|1	0|0	KIAA0196|KIAA0196	126128748|126128748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.028000|8.028000	0.88798|0.88798	2.064000|2.064000	0.61679|0.61679	0.454000|0.454000	0.30748|0.30748	GAT|ATT		0.348	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		C	126059566	T	C	126059566	3	2	358	1	0	0	0	0	1	0	0	0	8161	1435	50	4	1132	4	KIAA0196	8	126059566	Missense_Mutation	SNP	T	TCGA-29-2431-01A-01D-1526-09	4235994	126059566	20304456	18	19615											
TLR4	7099	genome.wustl.edu	37	9	120475369	120475369	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr9:120475369A>T	ENST00000355622.6	+	3	1064	c.963A>T	c.(961-963)gaA>gaT	p.E321D	TLR4_ENST00000394487.4_Missense_Mutation_p.E281D|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	321					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGACTATTGAAAGGGTAAAAG	0.318																																																0			9											67	75	72					9																	120475369		2203	4299	6502	119515190	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.963A>T	9.37:g.120475369A>T	ENSP00000363089:p.Glu321Asp		119515190	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	2.666	-0.278640	0.05679	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.23147	1.92;1.92	5.78	-11.6	0.00059	.	2.479630	0.01198	N	0.007506	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14144	-1.0483	10	0.11485	T	0.65	.	4.7601	0.13104	0.4943:0.3124:0.1129:0.0804	.	321	O00206	TLR4_HUMAN	D	281;321	ENSP00000377997:E281D;ENSP00000363089:E321D	ENSP00000363089:E321D	E	+	3	2	TLR4	119515190	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.346000	0.00021	-4.384000	0.00052	-1.392000	0.01152	GAA		0.318	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		T	120475369	A	T	120475369	3	4	358	1	0	0	0	0	1	0	0	0	15953	11	1	5	973	5	TLR4	9	120475369	Missense_Mutation	SNP	A	TCGA-29-2431-01A-01D-1526-09		120475369	20738062	19	19616											
GLE1	2733	genome.wustl.edu	37	9	131285076	131285076	+	Missense_Mutation	SNP	C	C	T	rs368484174		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr9:131285076C>T	ENST00000309971.4	+	4	668	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	GLE1_ENST00000539582.1_Intron|GLE1_ENST00000372770.4_Missense_Mutation_p.R188W	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	188					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CCAGGACTTGCGGGAAGTAAT	0.468																																																0			9						C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	101	81	88		562,562	2	0	9		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GLE1	NM_001003722.1,NM_001499.2	101,101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	188/699,188/660	131285076	3,13003	2203	4300	6503	130324897	SO:0001583	missense	2733			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.562C>T	9.37:g.131285076C>T	ENSP00000308622:p.Arg188Trp		130324897	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016505	0.54468	4.54E-4	1.16E-4	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.68025	-0.3;0.11	5.91	1.95	0.26073	.	0.296648	0.41500	D	0.000864	T	0.73442	0.3587	L	0.61218	1.895	0.18873	N	0.999989	D;D	0.89917	0.999;1.0	P;P	0.62740	0.77;0.906	T	0.64407	-0.6415	10	0.87932	D	0	-11.0075	8.2494	0.31708	0.4015:0.5292:0.0:0.0693	.	188;188	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	W	188	ENSP00000308622:R188W;ENSP00000361856:R188W	ENSP00000308622:R188W	R	+	1	2	GLE1	130324897	0.995000	0.38212	0.036000	0.18154	0.879000	0.50718	2.072000	0.41510	0.099000	0.17552	0.650000	0.86243	CGG		0.468	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		T	131285076	C	T	131285076	3	4	358	1	0	0	0	0	1	0	0	0	6435	759	27	1	576	1	GLE1	9	131285076	Missense_Mutation	SNP	C	TCGA-29-2431-01A-01D-1526-09	10809707	131285076	9928355	20	19617											
HPS6	79803	genome.wustl.edu	37	10	103826522	103826522	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr10:103826522A>G	ENST00000299238.5	+	1	1376	c.1291A>G	c.(1291-1293)Aca>Gca	p.T431A		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	431					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACACAGCAGCACATTCCGGGC	0.627									Hermansky-Pudlak syndrome																																							0			10											48	53	51					10																	103826522		2203	4300	6503	103816512	SO:0001583	missense	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1291A>G	10.37:g.103826522A>G	ENSP00000299238:p.Thr431Ala		103816512	Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	A	8.269	0.813038	0.16537	.	.	ENSG00000166189	ENST00000299238	T	0.76448	-1.02	5.27	4.14	0.48551	.	0.331135	0.30320	N	0.009886	T	0.64327	0.2588	L	0.34521	1.04	0.22401	N	0.999134	B	0.16396	0.017	B	0.12837	0.008	T	0.47611	-0.9104	10	0.18276	T	0.48	1.2083	9.8315	0.40944	0.8568:0.0:0.1432:0.0	.	431	Q86YV9	HPS6_HUMAN	A	431	ENSP00000299238:T431A	ENSP00000299238:T431A	T	+	1	0	HPS6	103816512	0.717000	0.27966	0.789000	0.31954	0.988000	0.76386	3.383000	0.52471	1.027000	0.39758	0.459000	0.35465	ACA		0.627	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		G	103826522	A	G	103826522	3	3	358	1	0	0	0	0	1	0	0	0	7343	159	6	4	1293	4	HPS6	10	103826522	Missense_Mutation	SNP	A	TCGA-29-2431-01A-01D-1526-09		103826522	31708225	21	19618											
OR4P4	81300	genome.wustl.edu	37	11	55406706	55406706	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr11:55406706G>T	ENST00000314612.2	+	1	873	c.873G>T	c.(871-873)gaG>gaT	p.E291D		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GAAACACAGAGATGAAGAACG	0.413																																																0			11											130	123	126					11																	55406706		2180	4003	6183	55163282	SO:0001583	missense	81300			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.873G>T	11.37:g.55406706G>T	ENSP00000324831:p.Glu291Asp		55163282		Missense_Mutation	SNP	ENST00000314612.2	37	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855020	0.17106	.	.	ENSG00000181927	ENST00000314612	T	0.37411	1.2	5.42	1.38	0.22167	.	0.000000	0.41500	D	0.000863	T	0.16685	0.0401	N	0.10664	0.02	0.28788	N	0.899491	B	0.18461	0.028	B	0.21151	0.033	T	0.11131	-1.0600	10	0.59425	D	0.04	-3.4269	5.7886	0.18347	0.2324:0.0:0.6325:0.1351	.	291	Q8NGL7	OR4P4_HUMAN	D	291	ENSP00000324831:E291D	ENSP00000324831:E291D	E	+	3	2	OR4P4	55163282	1.000000	0.71417	0.990000	0.47175	0.050000	0.14768	0.690000	0.25451	0.258000	0.21686	0.637000	0.83480	GAG		0.413	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		T	55406706	G	T	55406706	3	4	358	1	0	0	0	0	1	0	0	0	11080	933	33	3	875	3	OR4P4	11	55406706	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09		55406706	79599810	22	19619											
TMEM117	84216	genome.wustl.edu	37	12	44781918	44781918	+	Silent	SNP	G	G	A	rs150882895		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr12:44781918G>A	ENST00000266534.3	+	8	1135	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.P232P|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	336						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATATCGGCCCGGGGCAGAAGA	0.378													g|||	1	0.000199681	0	0	5008	,	,		17226	0		0.001	False		,,,				2504	0															0			12						A		0,4406		0,0,2203	49	49	49		1008	-0.1	1	12	dbSNP_134	49	1,8597		0,1,4298	no	coding-synonymous	TMEM117	NM_032256.1		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		336/515	44781918	1,13003	2203	4299	6502	43068185	SO:0001819	synonymous_variant	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1008G>A	12.37:g.44781918G>A			43068185		Silent	SNP	ENST00000266534.3	37	CCDS8745.1																																																																																				0.378	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		A	44781918	G	A	44781918	2	1	358	1	0	0	0	0	0	0	0	1	16031	1103	39	1		1	TMEM117	12	44781918	Silent	SNP	G	TCGA-29-2431-01A-01D-1526-09		44781918	89069977	23	19620											
IFI27L1	122509	genome.wustl.edu	37	14	94568222	94568222	+	Missense_Mutation	SNP	G	G	A	rs545021441		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr14:94568222G>A	ENST00000555523.1	+	4	343	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A42T|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A42T|IFI27L1_ENST00000556381.1_Missense_Mutation_p.A41T|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R64H|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000553350.1_Intron	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	42						integral component of membrane (GO:0016021)				lung(2)	2						AGTAGGAATCGCCGCATCCTC	0.602																																																0			14											119	94	103					14																	94568222		2203	4300	6503	93637975	SO:0001583	missense	122509			BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"family with sequence similarity 14, member B"	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.124G>A	14.37:g.94568222G>A	ENSP00000451851:p.Ala42Thr		93637975		Missense_Mutation	SNP	ENST00000555523.1	37	CCDS9919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.95|11.95	1.791805|1.791805	0.31685|0.31685	.|.	.|.	ENSG00000165948|ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000554562|ENST00000553664	T;T;T;T;T;T|.	0.37058|.	1.22;1.22;1.22;1.22;1.22;1.22|.	3.48|3.48	1.63|1.63	0.23807|0.23807	.|.	0.184948|.	0.33650|.	U|.	0.004686|.	T|T	0.30293|0.30293	0.0760|0.0760	L|L	0.31752|0.31752	0.955|0.955	0.29624|0.29624	N|N	0.845931|0.845931	P|.	0.36647|.	0.563|.	B|.	0.32465|.	0.146|.	T|T	0.27297|0.27297	-1.0078|-1.0078	10|5	0.46703|.	T|.	0.11|.	.|.	5.5674|5.5674	0.17179|0.17179	0.257:0.0:0.743:0.0|0.257:0.0:0.743:0.0	.|.	42|.	Q96BM0|.	I27L1_HUMAN|.	T|H	42;42;41;41;41;42|64	ENSP00000451851:A42T;ENSP00000376824:A42T;ENSP00000452226:A41T;ENSP00000451459:A41T;ENSP00000451608:A41T;ENSP00000450620:A42T|.	ENSP00000376824:A42T|.	A|R	+|+	1|2	0|0	IFI27L1|IFI27L1	93637975|93637975	0.998000|0.998000	0.40836|0.40836	0.038000|0.038000	0.18304|0.18304	0.003000|0.003000	0.03518|0.03518	2.631000|2.631000	0.46502|0.46502	0.478000|0.478000	0.27488|0.27488	-0.218000|-0.218000	0.12543|0.12543	GCC|CGC		0.602	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412868.1	NM_206949		A	94568222	G	A	94568222	3	1	358	1	0	0	0	0	1	0	0	0	7513	1087	38	1	134	1	IFI27L1	14	94568222	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09		94568222	12781318	24	19621											
ACTC1	70	genome.wustl.edu	37	15	35085654	35085654	+	Silent	SNP	G	G	A	rs373261583		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr15:35085654G>A	ENST00000290378.4	-	3	901	c.246C>T	c.(244-246)gaC>gaT	p.D82D	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	82					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCTCCATGTCGTCCCAGTTGG	0.577																																																0			15						G		1,4401	2.1+/-5.4	0,1,2200	96	82	87		246	-11	0.2	15		87	0,8596		0,0,4298	no	coding-synonymous	ACTC1	NM_005159.4		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		82/378	35085654	1,12997	2201	4298	6499	32872946	SO:0001819	synonymous_variant	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.246C>T	15.37:g.35085654G>A			32872946	P04270	Silent	SNP	ENST00000290378.4	37	CCDS10041.1																																																																																				0.577	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		A	35085654	G	A	35085654	2	1	358	1	0	0	0	0	0	0	0	1	195	1136	40	1		1	ACTC1	15	35085654	Silent	SNP	G	TCGA-29-2431-01A-01D-1526-09		35085654	67445738	25	19622											
UBE2Q2	92912	genome.wustl.edu	37	15	76175727	76175727	+	Silent	SNP	T	T	C			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr15:76175727T>C	ENST00000267938.4	+	9	1228	c.846T>C	c.(844-846)ccT>ccC	p.P282P	UBE2Q2_ENST00000569423.1_Silent_p.P247P|UBE2Q2_ENST00000338677.4_Silent_p.P282P|UBE2Q2_ENST00000561851.1_Silent_p.P266P	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	282					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						CATTTGATCCTCCATTTGTTC	0.264																																																0			15											65	65	65					15																	76175727		2197	4294	6491	73962782	SO:0001819	synonymous_variant	92912			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"Ubiquitin-conjugating enzymes E2"	19248	protein-coding gene	gene with protein product		612501	"ubiquitin-conjugating enzyme E2Q (putative) 2"			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.846T>C	15.37:g.76175727T>C			73962782	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Silent	SNP	ENST00000267938.4	37	CCDS10286.1																																																																																				0.264	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		C	76175727	T	C	76175727	2	2	358	1	0	0	0	0	0	0	0	1	16870	1538	54	4		4	UBE2Q2	15	76175727	Silent	SNP	T	TCGA-29-2431-01A-01D-1526-09	41090073	76175727	26355665	26	19623											
SLC28A1	9154	genome.wustl.edu	37	15	85488010	85488010	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr15:85488010G>A	ENST00000286749.3	+	17	1876	c.1786G>A	c.(1786-1788)Gct>Act	p.A596T	SLC28A1_ENST00000538177.1_Missense_Mutation_p.A430T|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A596T|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A596T			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	596					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GCCCAGGGGGGCTGAAGTTGA	0.607																																																0			15											94	91	92					15																	85488010		2203	4299	6502	83289014	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1786G>A	15.37:g.85488010G>A	ENSP00000286749:p.Ala596Thr		83289014	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.658755	0.29515	.	.	ENSG00000156222	ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.02787	4.16;4.68;4.66;4.66	4.72	-0.478	0.12093	.	1.156670	0.06378	N	0.714677	T	0.03871	0.0109	M	0.68593	2.085	0.09310	N	1	B;B;B	0.15930	0.009;0.001;0.015	B;B;B	0.18561	0.013;0.002;0.022	T	0.50651	-0.8803	10	0.14252	T	0.57	-5.0371	4.4258	0.11501	0.3431:0.2988:0.3581:0.0	.	596;430;596	F5H560;B7Z3L6;O00337	.;.;S28A1_HUMAN	T	430;596;596;596	ENSP00000443752:A430T;ENSP00000444700:A596T;ENSP00000286749:A596T;ENSP00000378074:A596T	ENSP00000286749:A596T	A	+	1	0	SLC28A1	83289014	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.324000	0.07986	-0.258000	0.09446	-0.305000	0.09177	GCT		0.607	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			A	85488010	G	A	85488010	3	1	358	1	0	0	0	0	1	0	0	0	14534	1203	42	2	1919	2	SLC28A1	15	85488010	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09	9312283	85488010	17043382	27	19624											
RHCG	51458	genome.wustl.edu	37	15	90023525	90023525	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr15:90023525A>G	ENST00000268122.4	-	4	705	c.637T>C	c.(637-639)Tct>Cct	p.S213P	RHCG_ENST00000544600.1_Missense_Mutation_p.S213P	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	213					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGGTACACAGAATTCTGTCTC	0.552																																																0			15											221	195	203					15																	90023525		2200	4299	6499	87824529	SO:0001583	missense	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.637T>C	15.37:g.90023525A>G	ENSP00000268122:p.Ser213Pro		87824529	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.095597	0.36952	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.24538	1.85;1.85	5.34	-1.45	0.08828	Ammonium transporter AmtB-like (3);	0.439851	0.28889	N	0.013811	T	0.25457	0.0619	M	0.79475	2.455	0.58432	D	0.999999	B;B	0.20368	0.044;0.044	B;B	0.29598	0.104;0.104	T	0.03717	-1.1010	9	.	.	.	-0.6148	5.634	0.17526	0.5608:0.2436:0.1956:0.0	.	213;213	A8K4D4;Q9UBD6	.;RHCG_HUMAN	P	213;213;204	ENSP00000438123:S213P;ENSP00000268122:S213P	.	S	-	1	0	RHCG	87824529	0.982000	0.34865	0.004000	0.12327	0.533000	0.34776	2.222000	0.42926	-0.530000	0.06349	0.456000	0.33151	TCT		0.552	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		G	90023525	A	G	90023525	3	3	358	1	0	0	0	0	1	0	0	0	13329	246	9	4	830	4	RHCG	15	90023525	Missense_Mutation	SNP	A	TCGA-29-2431-01A-01D-1526-09	4535515	90023525	12507867	28	19625											
GPR56	9289	genome.wustl.edu	37	16	57685510	57685510	+	Missense_Mutation	SNP	G	G	T	rs199910467		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr16:57685510G>T	ENST00000388812.4	+	3	903	c.463G>T	c.(463-465)Gcc>Tcc	p.A155S	GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000379696.3_Missense_Mutation_p.A155S|GPR56_ENST00000540164.2_Missense_Mutation_p.A155S|GPR56_ENST00000562558.1_Missense_Mutation_p.A155S|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000568908.1_Missense_Mutation_p.A155S|GPR56_ENST00000538815.1_Missense_Mutation_p.A155S|GPR56_ENST00000388813.5_Missense_Mutation_p.A155S|GPR56_ENST00000562631.1_Missense_Mutation_p.A155S|GPR56_ENST00000567835.1_Missense_Mutation_p.A155S|GPR56_ENST00000568909.1_Missense_Mutation_p.A155S|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000456916.1_Missense_Mutation_p.A155S			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	155					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GCCCAGTGCCGCCAGCTTCAC	0.602																																																0			16											29	30	30					16																	57685510		2198	4300	6498	56243011	SO:0001583	missense	9289			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.463G>T	16.37:g.57685510G>T	ENSP00000373464:p.Ala155Ser		56243011	A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.443701	0.01089	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.21	-10.4	0.00318	.	0.935269	0.08946	N	0.870815	T	0.22742	0.0549	L	0.43152	1.355	0.19300	N	0.999979	B;B;B	0.24823	0.014;0.112;0.068	B;B;B	0.20184	0.009;0.028;0.012	T	0.04400	-1.0954	10	0.12430	T	0.62	.	6.0264	0.19658	0.0629:0.1972:0.2396:0.5002	.	160;155;155	B4DR54;Q9Y653-2;Q9Y653	.;.;GPR56_HUMAN	S	155	ENSP00000373465:A155S;ENSP00000373464:A155S;ENSP00000444415:A155S;ENSP00000398034:A155S;ENSP00000444911:A155S;ENSP00000369018:A155S	ENSP00000369018:A155S	A	+	1	0	GPR56	56243011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.687000	0.01927	-3.253000	0.00204	-2.547000	0.00178	GCC		0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			T	57685510	G	T	57685510	3	4	358	1	0	0	0	0	1	0	0	0	6700	1087	38	3	484	3	GPR56	16	57685510	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09		57685510	32669243	29	19626											
TNFRSF11A	8792	genome.wustl.edu	37	18	60017107	60017107	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr18:60017107G>A	ENST00000586569.1	+	3	258	c.220G>A	c.(220-222)Gat>Aat	p.D74N	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.D74N	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	74					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CTGTGGCCCGGATGAATACTT	0.423																																																0			18											193	183	186					18																	60017107		2203	4300	6503	58168087	SO:0001583	missense	8792			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.220G>A	18.37:g.60017107G>A	ENSP00000465500:p.Asp74Asn		58168087	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	G	9.999	1.232856	0.22626	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.69685	-0.42	5.33	5.33	0.75918	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.222472	0.46442	D	0.000290	T	0.49321	0.1550	N	0.20610	0.595	0.31960	N	0.608555	B;B	0.23735	0.052;0.09	B;B	0.26310	0.012;0.068	T	0.52624	-0.8551	9	.	.	.	-16.9773	10.4228	0.44361	0.0898:0.0:0.9102:0.0	.	96;74	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	N	96;74	ENSP00000269485:D74N	.	D	+	1	0	TNFRSF11A	58168087	0.998000	0.40836	0.811000	0.32455	0.478000	0.33099	3.827000	0.55745	2.646000	0.89796	0.462000	0.41574	GAT		0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			A	60017107	G	A	60017107	3	1	358	1	0	0	0	0	1	0	0	0	16284	1174	41	2	230	2	TNFRSF11A	18	60017107	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09		60017107	18060141	30	19627											
VASP	7408	genome.wustl.edu	37	19	46021045	46021045	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr19:46021045G>A	ENST00000245932.6	+	2	486	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	44	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CAACCCCACGGCCAATTCCTT	0.657																																																0			19											60	46	51					19																	46021045		2203	4300	6503	50712885	SO:0001583	missense	7408				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.130G>A	19.37:g.46021045G>A	ENSP00000245932:p.Ala44Thr		50712885	B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	37	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	G	7.667	0.686184	0.14973	.	.	ENSG00000125753	ENST00000245932	T	0.46063	0.88	4.75	-0.363	0.12556	EVH1 (3);Pleckstrin homology-type (1);	0.440276	0.22857	N	0.054798	T	0.13286	0.0322	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30592	-0.9973	10	0.10902	T	0.67	-2.7044	6.7246	0.23348	0.5763:0.0:0.4237:0.0	.	44	P50552	VASP_HUMAN	T	44	ENSP00000245932:A44T	ENSP00000245932:A44T	A	+	1	0	VASP	50712885	0.026000	0.19158	0.104000	0.21259	0.032000	0.12392	1.844000	0.39269	0.181000	0.19994	-0.768000	0.03414	GCC		0.657	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			A	46021045	G	A	46021045	3	1	358	1	0	0	0	0	1	0	0	0	17128	1203	42	2	136	2	VASP	19	46021045	Missense_Mutation	SNP	G	TCGA-29-2431-01A-01D-1526-09		46021045	13107938	31	19628											
SLC27A5	10998	genome.wustl.edu	37	19	59021228	59021228	+	Missense_Mutation	SNP	C	C	T	rs201282504		TCGA-29-2431-01A-01D-1526-09	TCGA-29-2431-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc01cf87-7e3d-4614-af77-74f6e42ed9d8	90544c70-b38c-4e8e-8524-2fbbe6bacc50	g.chr19:59021228C>T	ENST00000263093.2	-	3	1152	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G264D	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	348					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCTAAGCAGCCGAGGATCCC	0.547																																																0			19											143	92	110					19																	59021228		2203	4300	6503	63713040	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1043G>A	19.37:g.59021228C>T	ENSP00000263093:p.Gly348Asp		63713040	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	c	16.93	3.259207	0.59321	.	.	ENSG00000083807	ENST00000263093	T	0.47177	0.85	4.71	4.71	0.59529	AMP-dependent synthetase/ligase (1);	0.210323	0.49916	D	0.000131	T	0.71350	0.3329	M	0.87328	2.875	0.37810	D	0.928002	D	0.76494	0.999	D	0.81914	0.995	T	0.79040	-0.1966	10	0.72032	D	0.01	-12.0505	13.923	0.63945	0.0:1.0:0.0:0.0	.	348	Q9Y2P5	S27A5_HUMAN	D	348	ENSP00000263093:G348D	ENSP00000263093:G348D	G	-	2	0	SLC27A5	63713040	0.994000	0.37717	0.867000	0.34043	0.211000	0.24417	4.410000	0.59774	2.570000	0.86706	0.485000	0.47835	GGC		0.547	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		T	59021228	C	T	59021228	3	4	358	1	0	0	0	0	1	0	0	0	14532	739	26	2	1061	2	SLC27A5	19	59021228	Missense_Mutation	SNP	C	TCGA-29-2431-01A-01D-1526-09	13000183	59021228	107755	32	19629											
SLC2A7	155184	genome.wustl.edu	37	1	9078434	9078434	+	Splice_Site	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:9078434C>T	ENST00000400906.1	-	5	436	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	146					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GTAGGAGATGCCTGGTTTGGG	0.542																																																0			1											69	61	63					1																	9078434		2203	4300	6503	9001021	SO:0001630	splice_region_variant	155184			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.437-1G>A	1.37:g.9078434C>T			9001021	A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	CCDS98.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659800	0.88154	.	.	ENSG00000197241	ENST00000400906	D	0.92249	-3.0	4.51	4.51	0.55191	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97645	0.9228	H	0.98005	4.125	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.99267	1.0892	10	0.87932	D	0	.	16.3803	0.83458	0.0:1.0:0.0:0.0	.	146	Q6PXP3	GTR7_HUMAN	D	146	ENSP00000383698:G146D	ENSP00000383698:G146D	G	-	2	0	SLC2A7	9001021	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	7.037000	0.76531	2.329000	0.79093	0.561000	0.74099	GGC		0.542	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420	Missense_Mutation	T	9078434	C	T	9078434	5	4	359	1	0	0	0	0	0	0	1	0	14553	753	26	2	1133	2	SLC2A7	1	9078434	Splice_Site	SNP	C	TCGA-29-2432-01A-01D-1526-09		9078434	240172187	1	19630											
PRAMEF4	400735	genome.wustl.edu	37	1	12939692	12939692	+	Missense_Mutation	SNP	G	G	T	rs142785237	byFrequency	TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:12939692G>T	ENST00000235349.5	-	4	1180	c.1110C>A	c.(1108-1110)aaC>aaA	p.N370K		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	370					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAGATGGCGTTGACTTGGG	0.512																																																0			1											92	97	95					1																	12939692		1496	2685	4181	12862279	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1110C>A	1.37:g.12939692G>T	ENSP00000235349:p.Asn370Lys		12862279	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.017508	0.00042	.	.	ENSG00000243073	ENST00000235349	T	0.09445	2.98	1.48	-2.96	0.05547	.	1.784470	0.03110	N	0.162388	T	0.07369	0.0186	L	0.35542	1.07	0.09310	N	1	B	0.32862	0.387	B	0.35240	0.198	T	0.31779	-0.9931	10	0.10377	T	0.69	.	0.319	0.00300	0.3702:0.1396:0.2157:0.2745	.	370	O60810	PRAM4_HUMAN	K	370	ENSP00000235349:N370K	ENSP00000235349:N370K	N	-	3	2	PRAMEF4	12862279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.255000	0.00265	-3.983000	0.00084	-1.488000	0.00978	AAC		0.512	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		T	12939692	G	T	12939692	3	4	359	1	0	0	0	0	1	0	0	0	12440	1136	40	3	330	3	PRAMEF4	1	12939692	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	3861258	12939692	236310929	2	19631											
UBR4	23352	genome.wustl.edu	37	1	19473417	19473417	+	Silent	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:19473417C>T	ENST00000375254.3	-	52	7734	c.7707G>A	c.(7705-7707)gtG>gtA	p.V2569V	UBR4_ENST00000375226.2_Silent_p.V2580V|UBR4_ENST00000375267.2_Silent_p.V2569V|UBR4_ENST00000375217.2_Silent_p.V2569V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2569					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCCTCTGGAACACCTCAGGGT	0.522																																																0			1											259	239	246					1																	19473417		2203	4300	6503	19346004	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7707G>A	1.37:g.19473417C>T			19346004	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		T	19473417	C	T	19473417	2	4	359	1	0	0	0	0	0	0	0	1	16904	465	17	2		2	UBR4	1	19473417	Silent	SNP	C	TCGA-29-2432-01A-01D-1526-09	6533725	19473417	229777204	3	19632											
ABCA4	24	genome.wustl.edu	37	1	94564537	94564537	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:94564537C>A	ENST00000370225.3	-	6	667	c.581G>T	c.(580-582)gGa>gTa	p.G194V	ABCA4_ENST00000535735.1_Missense_Mutation_p.G194V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	194					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCGGGACTCCATGAGCGAA	0.582																																																0			1											29	28	29					1																	94564537		2203	4300	6503	94337125	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.581G>T	1.37:g.94564537C>A	ENSP00000359245:p.Gly194Val		94337125	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897469	0.72639	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91407	-2.69;-2.84	5.83	5.83	0.93111	.	0.118903	0.56097	D	0.000022	D	0.88157	0.6361	M	0.64260	1.97	0.80722	D	1	P;D	0.54772	0.869;0.968	P;P	0.47981	0.563;0.495	D	0.85672	0.1295	10	0.17369	T	0.5	.	17.9044	0.88914	0.0:1.0:0.0:0.0	.	194;194	F5H6E5;P78363	.;ABCA4_HUMAN	V	194	ENSP00000359245:G194V;ENSP00000437682:G194V	ENSP00000359245:G194V	G	-	2	0	ABCA4	94337125	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	7.449000	0.80643	2.757000	0.94681	0.563000	0.77884	GGA		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94564537	C	A	94564537	3	1	359	1	0	0	0	0	1	0	0	0	34	855	30	3	6420	3	ABCA4	1	94564537	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	75091120	94564537	154686084	4	19633											
RORC	6097	genome.wustl.edu	37	1	151789281	151789281	+	Splice_Site	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:151789281C>T	ENST00000318247.6	-	4	264	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Splice_Site_p.G107S|RORC_ENST00000356728.6_Splice_Site_p.G32S	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	53					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGGAAGAAGCCCTGGGGAAAG	0.622																																																0			1											28	23	25					1																	151789281		2200	4300	6500	150055905	SO:0001630	splice_region_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.157-1G>A	1.37:g.151789281C>T			150055905	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500106	0.96355	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.97529	-4.42;-4.42;-4.42	5.24	5.24	0.73138	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.64402	U	0.000004	D	0.98175	0.9397	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.99429	1.0935	10	0.87932	D	0	.	16.3321	0.83039	0.0:1.0:0.0:0.0	.	53;107;53;32	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	S	32;107;53	ENSP00000349164:G32S;ENSP00000376461:G107S;ENSP00000327025:G53S	ENSP00000327025:G53S	G	-	1	0	RORC	150055905	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.813000	0.86123	2.436000	0.82500	0.563000	0.77884	GGC		0.622	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		Missense_Mutation	T	151789281	C	T	151789281	5	4	359	1	0	0	0	0	0	0	1	0	13533	637	22	2	1431	2	RORC	1	151789281	Splice_Site	SNP	C	TCGA-29-2432-01A-01D-1526-09	57224744	151789281	97461340	5	19634											
KPRP	448834	genome.wustl.edu	37	1	152733748	152733748	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:152733748G>T	ENST00000606109.1	+	1	1712	c.1684G>T	c.(1684-1686)Gac>Tac	p.D562Y	KPRP_ENST00000368773.1_Missense_Mutation_p.D562Y			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	562						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCATGGAGACCAAGGCAA	0.522																																																0			1											72	68	69					1																	152733748		2203	4300	6503	151000372	SO:0001583	missense	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1684G>T	1.37:g.152733748G>T	ENSP00000475216:p.Asp562Tyr		151000372		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200131	0.58126	.	.	ENSG00000203786	ENST00000368773	T	0.17054	2.3	4.48	2.57	0.30868	.	0.457268	0.18647	N	0.135104	T	0.05731	0.0150	L	0.52573	1.65	0.30206	N	0.798149	B	0.32031	0.352	B	0.29176	0.099	T	0.17349	-1.0372	10	0.87932	D	0	-2.0985	4.9972	0.14245	0.1069:0.0:0.6834:0.2097	.	562	Q5T749	KPRP_HUMAN	Y	562	ENSP00000357762:D562Y	ENSP00000357762:D562Y	D	+	1	0	KPRP	151000372	0.798000	0.28890	0.970000	0.41538	0.241000	0.25554	0.500000	0.22562	1.226000	0.43582	0.313000	0.20887	GAC		0.522	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		T	152733748	G	T	152733748	3	4	359	1	0	0	0	0	1	0	0	0	8436	942	33	3	1686	3	KPRP	1	152733748	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	944467	152733748	96516873	6	19635											
OR10J5	127385	genome.wustl.edu	37	1	159505234	159505234	+	Silent	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:159505234G>A	ENST00000334857.2	-	1	608	c.564C>T	c.(562-564)tgC>tgT	p.C188C		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGGTATCAATGCAAGAAAGTT	0.393																																																0			1											79	73	75					1																	159505234		2203	4300	6503	157771858	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.564C>T	1.37:g.159505234G>A			157771858	B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	CCDS30910.1																																																																																				0.393	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		A	159505234	G	A	159505234	2	1	359	1	0	0	0	0	0	0	0	1	10912	1311	46	2		2	OR10J5	1	159505234	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09	6771486	159505234	89745387	7	19636											
EXO1	9156	genome.wustl.edu	37	1	242015649	242015649	+	Missense_Mutation	SNP	C	C	A	rs199625132		TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:242015649C>A	ENST00000366548.3	+	5	810	c.217C>A	c.(217-219)Cct>Act	p.P73T	EXO1_ENST00000518483.1_Missense_Mutation_p.P73T|EXO1_ENST00000348581.5_Missense_Mutation_p.P73T|EXO1_ENST00000493702.1_Intron	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	73	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGGGATCAAGCCTATTCTCGT	0.318								Editing and processing nucleases																																								0			1											157	167	164					1																	242015649		2203	4300	6503	240082272	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.217C>A	1.37:g.242015649C>A	ENSP00000355506:p.Pro73Thr		240082272	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394615	0.83011	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483;ENST00000450748	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.0	5.0	0.66597	XPG conserved site (1);XPG N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	H	0.97186	3.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97852	1.0275	10	0.87932	D	0	-0.0322	16.0799	0.81000	0.0:1.0:0.0:0.0	.	73;73;73	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	73	ENSP00000355506:P73T;ENSP00000311873:P73T;ENSP00000430251:P73T;ENSP00000406652:P73T	ENSP00000311873:P73T	P	+	1	0	EXO1	240082272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.336000	0.79503	0.591000	0.81541	CCT		0.318	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		A	242015649	C	A	242015649	3	1	359	1	0	0	0	0	1	0	0	0	5300	739	26	3	223	3	EXO1	1	242015649	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	82510415	242015649	7234972	8	19637											
C1orf101	257044	genome.wustl.edu	37	1	244756716	244756716	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:244756716C>G	ENST00000366534.4	+	16	2263	c.2209C>G	c.(2209-2211)Cca>Gca	p.P737A	C1orf101_ENST00000366533.4_Missense_Mutation_p.P737A|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.P586A	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	737						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GAGGCATCAGCCATCGAAAAA	0.313																																																0			1											94	99	97					1																	244756716		2203	4300	6503	242823339	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2209C>G	1.37:g.244756716C>G	ENSP00000355492:p.Pro737Ala		242823339	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.604275	0.00849	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	4.03	1.92	0.25849	.	0.433620	0.19358	N	0.116232	T	0.10078	0.0247	N	0.21194	0.64	0.09310	N	1	P;B;B;B	0.36909	0.573;0.063;0.373;0.419	B;B;B;B	0.35413	0.164;0.033;0.117;0.202	T	0.20840	-1.0263	10	0.08837	T	0.75	.	6.2625	0.20907	0.2147:0.5772:0.2082:0.0	.	657;737;737;586	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	A	737;737;737;657;586	ENSP00000355492:P737A;ENSP00000355491:P737A;ENSP00000395796:P657A;ENSP00000355489:P586A	ENSP00000355489:P586A	P	+	1	0	C1orf101	242823339	0.001000	0.12720	0.029000	0.17559	0.015000	0.08874	0.476000	0.22180	1.007000	0.39238	0.462000	0.41574	CCA		0.313	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		G	244756716	C	G	244756716	3	3	359	1	0	0	0	0	1	0	0	0	1976	739	26	3	2271	3	C1orf101	1	244756716	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	2741067	244756716	4493905	9	19638											
OR2M2	391194	genome.wustl.edu	37	1	248343796	248343796	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr1:248343796G>A	ENST00000359682.2	+	1	509	c.509G>A	c.(508-510)gGg>gAg	p.G170E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G170V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCTTTTGTGGGTCTCGGGAA	0.423																																																2	Substitution - Missense(2)	lung(2)	1											227	223	224					1																	248343796		2203	4300	6503	246410419	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.509G>A	1.37:g.248343796G>A	ENSP00000352710:p.Gly170Glu		246410419	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	12.23	1.875788	0.33162	.	.	ENSG00000198601	ENST00000359682	T	0.38887	1.11	1.88	0.9	0.19278	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31257	U	0.007963	T	0.57169	0.2035	M	0.88310	2.945	0.09310	N	1	D	0.53462	0.96	P	0.59703	0.862	T	0.45352	-0.9267	10	0.59425	D	0.04	.	3.8019	0.08761	0.2484:0.2348:0.5167:0.0	.	170	Q96R28	OR2M2_HUMAN	E	170	ENSP00000352710:G170E	ENSP00000352710:G170E	G	+	2	0	OR2M2	246410419	0.006000	0.16342	0.039000	0.18376	0.006000	0.05464	0.021000	0.13489	1.056000	0.40484	0.454000	0.30748	GGG		0.423	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		A	248343796	G	A	248343796	3	1	359	1	0	0	0	0	1	0	0	0	11010	1232	43	2	511	2	OR2M2	1	248343796	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	3587080	248343796	906825	10	19639											
EIF2B4	8890	genome.wustl.edu	37	2	27587588	27587588	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr2:27587588G>C	ENST00000347454.4	-	12	1540	c.1369C>G	c.(1369-1371)Cta>Gta	p.L457V	AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000451130.2_Missense_Mutation_p.L477V|EIF2B4_ENST00000493344.2_Missense_Mutation_p.L478V|EIF2B4_ENST00000445933.2_Missense_Mutation_p.L456V	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	457					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTACCTAGCTCATTAGAG	0.483																																																0			2											106	102	104					2																	27587588		2203	4300	6503	27441092	SO:0001583	missense	8890			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.1369C>G	2.37:g.27587588G>C	ENSP00000233552:p.Leu457Val		27441092	Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971261	0.74246	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	M	0.83774	2.66	0.80722	D	1	D;D;P;P	0.71674	0.998;0.998;0.859;0.733	D;D;P;P	0.72075	0.976;0.976;0.842;0.525	D	0.95682	0.8733	10	0.35671	T	0.21	.	17.2801	0.87126	0.0:0.0:1.0:0.0	.	454;456;457;477	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	V	457;454;456;477;478	ENSP00000233552:L457V;ENSP00000394397:L456V;ENSP00000394869:L477V;ENSP00000429323:L478V	ENSP00000233552:L457V	L	-	1	2	EIF2B4	27441092	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.471000	0.66762	2.655000	0.90218	0.655000	0.94253	CTA		0.483	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			C	27587588	G	C	27587588	3	2	359	1	0	0	0	0	1	0	0	0	5003	962	34	3	210	3	EIF2B4	2	27587588	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09		27587588	215611785	11	19640											
LTBP1	4052	genome.wustl.edu	37	2	33413786	33413786	+	Silent	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr2:33413786C>T	ENST00000404816.2	+	7	1922	c.1569C>T	c.(1567-1569)taC>taT	p.Y523Y	LTBP1_ENST00000390003.4_Silent_p.Y197Y|LTBP1_ENST00000418533.2_Silent_p.Y197Y|LTBP1_ENST00000402934.1_Silent_p.Y197Y|LTBP1_ENST00000404525.1_Silent_p.Y197Y|LTBP1_ENST00000407925.1_Silent_p.Y197Y|LTBP1_ENST00000354476.3_Silent_p.Y523Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	523					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGTCTCGTACCAAGGGCTTC	0.522																																																0			2											132	122	125					2																	33413786		2203	4300	6503	33267290	SO:0001819	synonymous_variant	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1569C>T	2.37:g.33413786C>T			33267290	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	CCDS33177.2																																																																																				0.522	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		T	33413786	C	T	33413786	2	4	359	1	0	0	0	0	0	0	0	1	9073	518	18	2		2	LTBP1	2	33413786	Silent	SNP	C	TCGA-29-2432-01A-01D-1526-09	5826198	33413786	209785587	12	19641											
SLC8A1	6546	genome.wustl.edu	37	2	40656129	40656129	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr2:40656129C>A	ENST00000403092.1	-	2	1325	c.1292G>T	c.(1291-1293)cGc>cTc	p.R431L	SLC8A1_ENST00000405901.3_Missense_Mutation_p.R431L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R431L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R431L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R431L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R431L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R431L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R431L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R431L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R431L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	431	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R431H(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCACCTCTGCGGATAATGGT	0.433																																																2	Substitution - Missense(2)	large_intestine(2)	2											97	84	88					2																	40656129		2203	4300	6503	40509633	SO:0001583	missense	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1292G>T	2.37:g.40656129C>A	ENSP00000384763:p.Arg431Leu		40509633	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939084	0.73557	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.043864	0.85682	D	0.000000	T	0.66436	0.2789	L	0.56124	1.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.991;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.997;0.94;0.998	T	0.64525	-0.6387	10	0.62326	D	0.03	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	431;431;431;431;431	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	431	ENSP00000383886:R431L;ENSP00000440727:R431L;ENSP00000384763:R431L;ENSP00000385678:R431L;ENSP00000385188:R431L;ENSP00000385535:R431L;ENSP00000332931:R431L;ENSP00000384908:R431L;ENSP00000385811:R431L;ENSP00000443515:R431L	ENSP00000332931:R431L	R	-	2	0	SLC8A1	40509633	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.663000	0.83820	2.941000	0.99782	0.655000	0.94253	CGC		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		A	40656129	C	A	40656129	3	1	359	1	0	0	0	0	1	0	0	0	14709	768	27	3	1777	3	SLC8A1	2	40656129	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	7242343	40656129	202543244	13	19642											
EHBP1	23301	genome.wustl.edu	37	2	63223825	63223825	+	Silent	SNP	A	A	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr2:63223825A>T	ENST00000263991.5	+	21	3722	c.3240A>T	c.(3238-3240)gcA>gcT	p.A1080A	EHBP1_ENST00000405289.1_Silent_p.A1045A|EHBP1_ENST00000354487.3_Silent_p.A1045A|EHBP1_ENST00000431489.1_Silent_p.A1009A|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Silent_p.A1009A	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1080						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AATTGGCAGCACTAGAGAATG	0.443																																																0			2											122	117	119					2																	63223825		2203	4300	6503	63077329	SO:0001819	synonymous_variant	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3240A>T	2.37:g.63223825A>T			63077329	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	CCDS1872.1																																																																																				0.443	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		T	63223825	A	T	63223825	2	4	359	1	0	0	0	0	0	0	0	1	4975	146	6	5		5	EHBP1	2	63223825	Silent	SNP	A	TCGA-29-2432-01A-01D-1526-09	22567696	63223825	179975548	14	19643											
DPP10	57628	genome.wustl.edu	37	2	116593799	116593799	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr2:116593799G>A	ENST00000410059.1	+	22	2497	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M	DPP10_ENST00000409163.1_Missense_Mutation_p.V623M|DPP10_ENST00000393147.2_Missense_Mutation_p.V677M|DPP10_ENST00000310323.8_Missense_Mutation_p.V666M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	673						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATGTGGATCCGTGGTTGCACC	0.333																																																0			2											85	83	84					2																	116593799		2203	4300	6503	116310269	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2017G>A	2.37:g.116593799G>A	ENSP00000386565:p.Val673Met		116310269	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759010	0.69763	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.67	4.79	0.61399	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.217359	0.39985	N	0.001209	T	0.31358	0.0794	N	0.16368	0.405	0.33747	D	0.620108	D;D;D;D	0.63046	0.978;0.988;0.992;0.983	P;P;P;P	0.58660	0.757;0.742;0.843;0.843	T	0.48614	-0.9020	10	0.87932	D	0	-20.6983	8.5213	0.33277	0.0764:0.0:0.7713:0.1522	.	666;677;669;673	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	673;623;677;666	ENSP00000386565:V673M;ENSP00000387038:V623M;ENSP00000376855:V677M;ENSP00000309066:V666M	ENSP00000309066:V666M	V	+	1	0	DPP10	116310269	0.997000	0.39634	0.994000	0.49952	0.958000	0.62258	3.045000	0.49838	1.381000	0.46364	0.655000	0.94253	GTG		0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116593799	G	A	116593799	3	1	359	1	0	0	0	0	1	0	0	0	4727	1145	40	1	2274	1	DPP10	2	116593799	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	53369974	116593799	126605574	15	19644											
PPIG	9360	genome.wustl.edu	37	2	170493379	170493379	+	Silent	SNP	A	A	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr2:170493379A>G	ENST00000260970.3	+	14	1831	c.1611A>G	c.(1609-1611)gaA>gaG	p.E537E	PPIG_ENST00000409714.3_Silent_p.E522E|PPIG_ENST00000448752.2_Silent_p.E537E	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	537					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAGTAAGGAAAAGGATAGAC	0.368																																																0			2											67	65	66					2																	170493379		2203	4300	6503	170201625	SO:0001819	synonymous_variant	9360			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1611A>G	2.37:g.170493379A>G			170201625	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	CCDS2235.1																																																																																				0.368	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			G	170493379	A	G	170493379	2	3	359	1	0	0	0	0	0	0	0	1	12327	11	1	4		4	PPIG	2	170493379	Silent	SNP	A	TCGA-29-2432-01A-01D-1526-09	53899580	170493379	72705994	16	19645											
STK25	10494	genome.wustl.edu	37	2	242438556	242438556	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr2:242438556C>T	ENST00000316586.4	-	7	968	c.619G>A	c.(619-621)Gag>Aag	p.E207K	STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.E113K|STK25_ENST00000405585.1_Missense_Mutation_p.E130K|STK25_ENST00000405883.3_Missense_Mutation_p.E130K|STK25_ENST00000535007.1_Missense_Mutation_p.E113K|STK25_ENST00000403346.3_Missense_Mutation_p.E207K|STK25_ENST00000401869.1_Missense_Mutation_p.E207K	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTGGCCAGCTCGATGGCTGTG	0.637																																					NSCLC(99;1100 1566 7679 28647 48345)											0			2											70	77	74					2																	242438556		2203	4300	6503	242087229	SO:0001583	missense	10494			D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.619G>A	2.37:g.242438556C>T	ENSP00000325748:p.Glu207Lys		242087229	A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270193	0.80469	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760	T;T;T;T;T;T;T;T;T;T;T	0.69806	1.23;1.23;1.23;1.23;1.23;1.23;1.23;-0.43;-0.43;-0.43;-0.43	5.18	5.18	0.71444	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	D	0.87406	0.6169	H	0.94542	3.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90800	0.4693	10	0.87932	D	0	.	19.0624	0.93099	0.0:1.0:0.0:0.0	.	133;130;207;113	B4DVS7;A8K6Z3;O00506;B4E185	.;.;STK25_HUMAN;.	K	207;207;207;130;113;130;113;113;113;111;113;113	ENSP00000325748:E207K;ENSP00000384162:E207K;ENSP00000385687:E207K;ENSP00000384444:E130K;ENSP00000385541:E130K;ENSP00000444886:E113K;ENSP00000446008:E113K;ENSP00000399212:E113K;ENSP00000417020:E111K;ENSP00000403607:E113K;ENSP00000395104:E113K	ENSP00000325748:E207K	E	-	1	0	STK25	242087229	1.000000	0.71417	0.953000	0.39169	0.163000	0.22366	7.583000	0.82559	2.578000	0.87016	0.655000	0.94253	GAG		0.637	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		T	242438556	C	T	242438556	3	4	359	1	0	0	0	0	1	0	0	0	15296	893	31	1	685	1	STK25	2	242438556	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	71945177	242438556	760817	17	19646											
IP6K2	51447	genome.wustl.edu	37	3	48726977	48726977	+	Silent	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr3:48726977G>A	ENST00000328631.5	-	5	997	c.774C>T	c.(772-774)ggC>ggT	p.G258G		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	258					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCACCTGCATGCCACACACAC	0.547																																																0			3											113	91	98					3																	48726977		2203	4300	6503	48701981	SO:0001819	synonymous_variant	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.774C>T	3.37:g.48726977G>A			48701981	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Silent	SNP	ENST00000328631.5	37	CCDS2777.1																																																																																				0.547	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		A	48726977	G	A	48726977	2	1	359	1	0	0	0	0	0	0	0	1	7789	1306	46	2		2	IP6K2	3	48726977	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09		48726977	149295453	18	19647											
WDR6	11180	genome.wustl.edu	37	3	49050042	49050042	+	Missense_Mutation	SNP	T	T	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr3:49050042T>A	ENST00000608424.1	+	2	1114	c.1075T>A	c.(1075-1077)Tct>Act	p.S359T	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.S389T|WDR6_ENST00000448293.1_Missense_Mutation_p.S308T|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	359					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TCTGGCTGGCTCTTGGCGACT	0.577																																																0			3											47	50	49					3																	49050042		2203	4300	6503	49025046	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1075T>A	3.37:g.49050042T>A	ENSP00000477389:p.Ser359Thr		49025046	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37		.	.	.	.	.	.	.	.	.	.	T	4.959	0.178163	0.09443	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.61274	0.12;2.28	5.28	1.88	0.25563	WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.126702	0.49916	D	0.000130	T	0.27169	0.0666	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.22683	0.073;0.03;0.073	B;B;B	0.19946	0.027;0.012;0.018	T	0.03068	-1.1076	10	0.29301	T	0.29	-14.7077	1.1779	0.01839	0.3289:0.0937:0.1406:0.4368	.	230;359;308	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	T	389;308	ENSP00000378857:S389T;ENSP00000413432:S308T	ENSP00000378857:S389T	S	+	1	0	WDR6	49025046	0.013000	0.17824	0.989000	0.46669	0.982000	0.71751	0.454000	0.21827	2.005000	0.58758	0.459000	0.35465	TCT		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			A	49050042	T	A	49050042	3	1	359	1	0	0	0	0	1	0	0	0	17310	1551	54	5	1171	5	WDR6	3	49050042	Missense_Mutation	SNP	T	TCGA-29-2432-01A-01D-1526-09	323065	49050042	148972388	19	19648											
STAB1	23166	genome.wustl.edu	37	3	52555462	52555462	+	Silent	SNP	T	T	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr3:52555462T>C	ENST00000321725.6	+	56	6070	c.5994T>C	c.(5992-5994)cgT>cgC	p.R1998R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1998	Laminin EGF-like 2. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCTGTGCCGTTCAGGTTTTG	0.642																																																0			3											213	190	198					3																	52555462		2203	4300	6503	52530502	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5994T>C	3.37:g.52555462T>C			52530502	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																				0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		C	52555462	T	C	52555462	2	2	359	1	0	0	0	0	0	0	0	1	15239	1712	60	4		4	STAB1	3	52555462	Silent	SNP	T	TCGA-29-2432-01A-01D-1526-09	3505420	52555462	145466968	20	19649											
RFT1	91869	genome.wustl.edu	37	3	53126420	53126420	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr3:53126420A>C	ENST00000296292.3	-	12	1484	c.1423T>G	c.(1423-1425)Ttt>Gtt	p.F475V	RP11-894J14.5_ENST00000607203.1_Intron|RFT1_ENST00000394738.3_Missense_Mutation_p.F436V	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	475					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTGAGGGCAAATGTCCCGAGC	0.622																																																0			3											44	40	41					3																	53126420		2203	4300	6503	53101460	SO:0001583	missense	91869			AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"congenital disorder of glycosylation 1N"	611908	"RFT1, requiring fifty three 1 homolog (S. cerevisiae)"			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.1423T>G	3.37:g.53126420A>C	ENSP00000296292:p.Phe475Val		53101460	Q96J03	Missense_Mutation	SNP	ENST00000296292.3	37	CCDS2869.1	.	.	.	.	.	.	.	.	.	.	A	9.950	1.219844	0.22373	.	.	ENSG00000163933	ENST00000296292;ENST00000394738	D;D	0.84730	-1.89;-1.89	5.46	5.46	0.80206	.	0.231716	0.46758	D	0.000279	T	0.76586	0.4008	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.24651	0.108;0.108	B;B	0.24269	0.052;0.052	T	0.65307	-0.6200	10	0.36615	T	0.2	.	9.1063	0.36701	0.9167:0.0:0.0833:0.0	.	436;475	B5MDE0;Q96AA3	.;RFT1_HUMAN	V	475;436	ENSP00000296292:F475V;ENSP00000378223:F436V	ENSP00000296292:F475V	F	-	1	0	RFT1	53101460	1.000000	0.71417	0.044000	0.18714	0.048000	0.14542	4.984000	0.63838	2.081000	0.62600	0.459000	0.35465	TTT		0.622	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		C	53126420	A	C	53126420	3	2	359	1	0	0	0	0	1	0	0	0	13260	101	4	5	210	5	RFT1	3	53126420	Missense_Mutation	SNP	A	TCGA-29-2432-01A-01D-1526-09	570958	53126420	144896010	21	19650											
QTRTD1	79691	genome.wustl.edu	37	3	113789576	113789576	+	Missense_Mutation	SNP	A	A	G	rs556393060	byFrequency	TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr3:113789576A>G	ENST00000493014.1	+	2	187	c.119A>G	c.(118-120)gAt>gGt	p.D40G	QTRTD1_ENST00000485050.1_Missense_Mutation_p.D158G|QTRTD1_ENST00000466050.1_3'UTR|QTRTD1_ENST00000281273.4_Missense_Mutation_p.D146G|QTRTD1_ENST00000479882.1_Missense_Mutation_p.D23G	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TGCCTCTCCGATGGAGAAGTA	0.478													A|||	2	0.000399361	0	0	5008	,	,		16340	0		0	False		,,,				2504	0.002															0			3											106	96	100					3																	113789576		2203	4300	6503	115272266	SO:0001583	missense	79691			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.119A>G	3.37:g.113789576A>G	ENSP00000419169:p.Asp40Gly		115272266		Missense_Mutation	SNP	ENST00000493014.1	37	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157518	0.78114	.	.	ENSG00000151576	ENST00000472599;ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89457	0.3734	9	0.87932	D	0	-15.2072	16.2987	0.82793	1.0:0.0:0.0:0.0	.	40;23;160;146	B7Z472;B7Z5R2;C9JJ71;Q9H974	.;.;.;QTRD1_HUMAN	G	160;158;146;23;40	.	ENSP00000281273:D146G	D	+	2	0	QTRTD1	115272266	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	8.962000	0.93254	2.257000	0.74773	0.459000	0.35465	GAT		0.478	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		G	113789576	A	G	113789576	3	3	359	1	0	0	0	0	1	0	0	0	12889	333	12	4	451	4	QTRTD1	3	113789576	Missense_Mutation	SNP	A	TCGA-29-2432-01A-01D-1526-09	60663156	113789576	84232854	22	19651											
FXR1	8087	genome.wustl.edu	37	3	180685969	180685969	+	Silent	SNP	A	A	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr3:180685969A>T	ENST00000357559.4	+	14	1713	c.1329A>T	c.(1327-1329)ggA>ggT	p.G443G	FXR1_ENST00000445140.2_Silent_p.G443G|FXR1_ENST00000491062.1_Silent_p.G394G|FXR1_ENST00000305586.7_Silent_p.G358G|FXR1_ENST00000480918.1_Silent_p.G430G|FXR1_ENST00000468861.1_Silent_p.G358G	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	443	RNA-binding RGG-box.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GACGCCCAGGAGGAAGAGGCA	0.527																																																0			3											124	108	113					3																	180685969		2203	4300	6503	182168663	SO:0001819	synonymous_variant	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1329A>T	3.37:g.180685969A>T			182168663	A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.677807	0.29783	.	.	ENSG00000114416	ENST00000482125	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.59609	0.2206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59322	-0.7476	4	.	.	.	-5.5711	8.0806	0.30741	0.8073:0.0:0.1927:0.0	.	.	.	.	V	44	.	.	E	+	2	0	FXR1	182168663	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.816000	0.27267	2.217000	0.71921	0.482000	0.46254	GAG		0.527	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			T	180685969	A	T	180685969	2	4	359	1	0	0	0	0	0	0	0	1	6115	291	11	5		5	FXR1	3	180685969	Silent	SNP	A	TCGA-29-2432-01A-01D-1526-09	66896393	180685969	17336461	23	19652											
GPRIN3	285513	genome.wustl.edu	37	4	90169018	90169018	+	Silent	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr4:90169018C>T	ENST00000609438.1	-	2	2762	c.2244G>A	c.(2242-2244)agG>agA	p.R748R	GPRIN3_ENST00000333209.4_Silent_p.R748R	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	748										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CACTGTGCTGCCTTCCTCTGA	0.463																																																0			4											111	113	112					4																	90169018		2203	4300	6503	90388041	SO:0001819	synonymous_variant	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2244G>A	4.37:g.90169018C>T			90388041	Q8IVE4	Silent	SNP	ENST00000609438.1	37	CCDS34030.1																																																																																				0.463	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		T	90169018	C	T	90169018	2	4	359	1	0	0	0	0	0	0	0	1	6731	738	26	2		2	GPRIN3	4	90169018	Silent	SNP	C	TCGA-29-2432-01A-01D-1526-09		90169018	100985258	24	19653											
CCNO	10309	genome.wustl.edu	37	5	54529143	54529143	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr5:54529143C>A	ENST00000282572.4	-	1	365	c.209G>T	c.(208-210)gGc>gTc	p.G70V	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	70					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GCTCTCTGCGCCGTCTGAGCC	0.716																																																0			5											9	10	10					5																	54529143		2177	4268	6445	54564900	SO:0001583	missense	10309			M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"cyclin U"	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.209G>T	5.37:g.54529143C>A	ENSP00000282572:p.Gly70Val		54564900	A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	C	4.382	0.070552	0.08436	.	.	ENSG00000152669	ENST00000282572	T	0.18657	2.2	5.37	0.182	0.15077	.	1.208020	0.05981	N	0.644196	T	0.11922	0.0290	N	0.19112	0.55	0.18873	N	0.999986	B	0.15930	0.015	B	0.12837	0.008	T	0.33777	-0.9855	10	0.27785	T	0.31	.	2.7552	0.05291	0.261:0.2428:0.3829:0.1134	.	70	P22674	CCNO_HUMAN	V	70	ENSP00000282572:G70V	ENSP00000282572:G70V	G	-	2	0	CCNO	54564900	0.003000	0.15002	0.013000	0.15412	0.012000	0.07955	0.768000	0.26590	0.236000	0.21180	-1.083000	0.02208	GGC		0.716	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	NM_021147		A	54529143	C	A	54529143	3	1	359	1	0	0	0	0	1	0	0	0	2933	739	26	3	855	3	CCNO	5	54529143	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09		54529143	126386117	25	19654											
PCDHB8	56128	genome.wustl.edu	37	5	140558832	140558832	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr5:140558832C>G	ENST00000239444.2	+	1	1462	c.1217C>G	c.(1216-1218)aCa>aGa	p.T406R	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTACTAACAGAGACACCA	0.468																																																0			5											115	150	138					5																	140558832		2203	4300	6503	140539016	SO:0001583	missense	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1217C>G	5.37:g.140558832C>G	ENSP00000239444:p.Thr406Arg		140539016	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	9.542	1.113645	0.20795	.	.	ENSG00000120322	ENST00000239444	T	0.01787	4.64	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16896	0.0406	H	0.97962	4.115	0.09310	N	0.999995	D	0.59767	0.986	D	0.64877	0.93	T	0.23797	-1.0178	9	0.87932	D	0	.	11.0168	0.47693	0.0:0.9069:0.0:0.0931	.	406	Q9UN66	PCDB8_HUMAN	R	406	ENSP00000239444:T406R	ENSP00000239444:T406R	T	+	2	0	PCDHB8	140539016	0.017000	0.18338	0.002000	0.10522	0.001000	0.01503	1.643000	0.37217	1.911000	0.55334	0.585000	0.79938	ACA		0.468	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		G	140558832	C	G	140558832	3	3	359	1	0	0	0	0	1	0	0	0	11548	478	17	3	1219	3	PCDHB8	5	140558832	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	86029689	140558832	40356428	26	19655											
NMUR2	56923	genome.wustl.edu	37	5	151784620	151784620	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr5:151784620C>G	ENST00000255262.3	-	1	220	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	19					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AATGGATCTTCTAGTTTCTGC	0.522																																																0			5											96	103	101					5																	151784620		2203	4300	6503	151764813	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.55G>C	5.37:g.151784620C>G	ENSP00000255262:p.Glu19Gln		151764813	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	3.370	-0.128719	0.06753	.	.	ENSG00000132911	ENST00000255262	T	0.70516	-0.49	5.04	3.27	0.37495	.	0.746589	0.12562	N	0.458068	T	0.55097	0.1899	L	0.34521	1.04	0.21064	N	0.999799	B	0.18741	0.03	B	0.15870	0.014	T	0.37502	-0.9703	10	0.16896	T	0.51	-0.5975	7.3984	0.26950	0.0:0.692:0.1476:0.1604	.	19	Q9GZQ4	NMUR2_HUMAN	Q	19	ENSP00000255262:E19Q	ENSP00000255262:E19Q	E	-	1	0	NMUR2	151764813	0.007000	0.16637	0.368000	0.25939	0.018000	0.09664	1.459000	0.35234	0.547000	0.28938	-0.123000	0.14984	GAA		0.522	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		G	151784620	C	G	151784620	3	3	359	1	0	0	0	0	1	0	0	0	10507	922	32	3	1208	3	NMUR2	5	151784620	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	11225788	151784620	29130640	27	19656											
NSD1	64324	genome.wustl.edu	37	5	176665275	176665275	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr5:176665275G>A	ENST00000439151.2	+	7	4004	c.3959G>A	c.(3958-3960)cGa>cAa	p.R1320Q	NSD1_ENST00000347982.4_Missense_Mutation_p.R1051Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R1217Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1051Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1320					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		CTTCTAGCCCGAGGTCGATCT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			5											93	101	99					5																	176665275		2203	4300	6503	176597881	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3959G>A	5.37:g.176665275G>A	ENSP00000395929:p.Arg1320Gln		176597881	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828279	0.50845	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93247	-3.08;-3.1;-3.08;-3.19	5.19	3.26	0.37387	.	0.545556	0.16912	N	0.194472	T	0.79587	0.4471	N	0.04880	-0.145	0.26215	N	0.979241	B;P;B	0.34864	0.093;0.473;0.026	B;B;B	0.19148	0.021;0.024;0.001	T	0.71702	-0.4513	10	0.32370	T	0.25	.	6.2374	0.20770	0.2235:0.0:0.7765:0.0	.	1051;1217;1320	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1051;1320;1051;1217	ENSP00000346111:R1051Q;ENSP00000395929:R1320Q;ENSP00000343209:R1051Q;ENSP00000354310:R1217Q	ENSP00000343209:R1051Q	R	+	2	0	NSD1	176597881	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.871000	0.28023	1.420000	0.47138	0.655000	0.94253	CGA		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		A	176665275	G	A	176665275	3	1	359	1	0	0	0	0	1	0	0	0	10669	1058	37	1	3981	1	NSD1	5	176665275	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	24880655	176665275	4249985	28	19657											
TBC1D9B	23061	genome.wustl.edu	37	5	179334815	179334815	+	Silent	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr5:179334815G>A	ENST00000356834.3	-	1	44	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	TBC1D9B_ENST00000355235.3_Silent_p.L3L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	3						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGGGCTCAGCCACATCGCG	0.771																																																0			5											7	6	6					5																	179334815		1429	2622	4051	179267421	SO:0001819	synonymous_variant	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.7C>T	5.37:g.179334815G>A			179267421	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	CCDS43408.1																																																																																				0.771	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		A	179334815	G	A	179334815	2	1	359	1	0	0	0	0	0	0	0	1	15628	962	34	2		2	TBC1D9B	5	179334815	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09	2669540	179334815	1580445	29	19658											
BTN3A1	11119	genome.wustl.edu	37	6	26406179	26406179	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr6:26406179T>C	ENST00000289361.6	+	3	496	c.128T>C	c.(127-129)aTg>aCg	p.M43T	BTN3A1_ENST00000476549.2_Missense_Mutation_p.M43T|BTN3A1_ENST00000414912.2_Missense_Mutation_p.M43T|BTN3A1_ENST00000425234.2_Missense_Mutation_p.M43T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	43	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATCCTGGCCATGGTGGGTGAA	0.577																																																0			6											64	63	63					6																	26406179		2203	4297	6500	26514158	SO:0001583	missense	11119			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.128T>C	6.37:g.26406179T>C	ENSP00000289361:p.Met43Thr		26514158	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.798846	0.50208	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000427334;ENST00000506698;ENST00000414912	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;0.15;4.31;-0.09	2.21	-0.319	0.12725	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41166	0.1147	N	0.20685	0.6	0.09310	N	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.75020	0.985;0.981;0.983;0.985	T	0.20605	-1.0270	9	0.31617	T	0.26	.	4.3659	0.11225	0.0:0.3585:0.0:0.6415	.	43;43;43;43	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	T	43	ENSP00000420010:M43T;ENSP00000289361:M43T;ENSP00000394937:M43T;ENSP00000396684:M43T;ENSP00000399393:M43T;ENSP00000427013:M43T;ENSP00000406667:M43T	ENSP00000289361:M43T	M	+	2	0	BTN3A1	26514158	0.000000	0.05858	0.000000	0.03702	0.913000	0.54294	-0.368000	0.07543	-0.063000	0.13065	0.454000	0.30748	ATG		0.577	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			C	26406179	T	C	26406179	3	2	359	1	0	0	0	0	1	0	0	0	1562	1464	51	4	134	4	BTN3A1	6	26406179	Missense_Mutation	SNP	T	TCGA-29-2432-01A-01D-1526-09		26406179	144708888	30	19659											
DNAH8	1769	genome.wustl.edu	37	6	38775494	38775494	+	Splice_Site	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr6:38775494C>G	ENST00000359357.3	+	22	2860		c.e22+2		DNAH8_ENST00000441566.1_Splice_Site|DNAH8_ENST00000449981.2_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTGCAAGGCAAGTTGAAAA	0.274																																																0			6											89	88	89					6																	38775494		2203	4298	6501	38883472	SO:0001630	splice_region_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2606+2C>G	6.37:g.38775494C>G			38883472	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	C	5.787	0.329511	0.10956	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	6.07	-0.734	0.11140	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4273	0.38588	0.0:0.4966:0.0:0.5034	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38883472	1.000000	0.71417	0.964000	0.40570	0.267000	0.26476	0.505000	0.22642	-0.054000	0.13266	-1.735000	0.00691	.		0.274	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	G	38775494	C	G	38775494	5	3	359	1	0	0	0	0	0	0	1	0	4607	724	25	3	2686	3	DNAH8	6	38775494	Splice_Site	SNP	C	TCGA-29-2432-01A-01D-1526-09	12369315	38775494	132339573	31	19660											
MAP3K5	4217	genome.wustl.edu	37	6	136934308	136934308	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr6:136934308C>A	ENST00000359015.4	-	17	2725	c.2365G>T	c.(2365-2367)Gaa>Taa	p.E789*	MAP3K5_ENST00000355845.4_Nonsense_Mutation_p.E36*	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTAATCCTTCCAGTATTTGC	0.388																																																0			6											152	141	145					6																	136934308		2203	4300	6503	136976001	SO:0001587	stop_gained	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2365G>T	6.37:g.136934308C>A	ENSP00000351908:p.Glu789*		136976001	A6NIA0|B4DGB2|Q5THN3|Q99461	Nonsense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	43	10.166850	0.99351	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	.	.	.	5.67	5.67	0.87782	.	0.141019	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.7547	0.96285	0.0:1.0:0.0:0.0	.	.	.	.	X	789;36;869	.	ENSP00000348104:E36X	E	-	1	0	MAP3K5	136976001	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.487000	0.81328	2.667000	0.90743	0.655000	0.94253	GAA		0.388	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			A	136934308	C	A	136934308	4	1	359	1	0	0	0	0	0	1	0	0	9253	864	30	3	1815	3	MAP3K5	6	136934308	Nonsense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	98158814	136934308	34180759	32	19661											
TMEM195	392636	genome.wustl.edu	37	7	15470653	15470653	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr7:15470653C>G	ENST00000342526.3	-	4	659	c.490G>C	c.(490-492)Gtc>Ctc	p.V164L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	164					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATCTGGAGGACAGACTGTCTC	0.348																																																0			7											115	114	114					7																	15470653		2203	4299	6502	15437178	SO:0001583	missense	392636				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.490G>C	7.37:g.15470653C>G	ENSP00000341662:p.Val164Leu		15437178	A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381372	0.24944	.	.	ENSG00000187546	ENST00000342526	D	0.83673	-1.75	5.76	3.95	0.45737	Fatty acid hydroxylase (1);	0.815798	0.11131	N	0.596392	T	0.65995	0.2745	N	0.11845	0.185	0.23841	N	0.996694	B	0.10296	0.003	B	0.15052	0.012	T	0.49021	-0.8982	10	0.08381	T	0.77	-31.5004	8.5782	0.33612	0.2704:0.6592:0.0:0.0704	.	164	Q6ZNB7	ALKMO_HUMAN	L	164	ENSP00000341662:V164L	ENSP00000341662:V164L	V	-	1	0	AGMO	15437178	0.278000	0.24230	0.305000	0.25099	0.935000	0.57460	0.802000	0.27069	0.772000	0.33382	0.591000	0.81541	GTC		0.348	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		G	15470653	C	G	15470653	3	3	359	1	0	0	0	0	1	0	0	0	16117	478	17	3	887	3	TMEM195	7	15470653	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09		15470653	143668010	33	19662											
NPSR1	387129	genome.wustl.edu	37	7	34888188	34888188	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr7:34888188T>C	ENST00000360581.1	+	8	1066	c.938T>C	c.(937-939)gTg>gCg	p.V313A	NPSR1_ENST00000381542.1_Missense_Mutation_p.V247A|NPSR1_ENST00000359791.1_Missense_Mutation_p.V313A|NPSR1_ENST00000381539.3_Missense_Mutation_p.V313A|NPSR1_ENST00000531252.1_Missense_Mutation_p.V302A	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	313						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TATGCCTCTGTGATCATTCAG	0.507																																																0			7											228	218	222					7																	34888188		2203	4300	6503	34854713	SO:0001583	missense	387129			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.938T>C	7.37:g.34888188T>C	ENSP00000353788:p.Val313Ala		34854713	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174909	0.78564	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.45895	0.1365	L	0.42008	1.315	0.47778	D	0.999516	D;D;D;P;D;P	0.63046	0.992;0.971;0.99;0.868;0.971;0.891	P;P;P;P;P;P	0.61533	0.89;0.717;0.824;0.734;0.717;0.783	T	0.21042	-1.0257	10	0.14656	T	0.56	-19.7329	14.4397	0.67306	0.0:0.0:0.0:1.0	.	247;302;247;313;313;313	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	A	313;247;313;302;313;116	ENSP00000353788:V313A;ENSP00000370953:V247A;ENSP00000352839:V313A;ENSP00000433258:V302A;ENSP00000370950:V313A	ENSP00000334093:V116A	V	+	2	0	NPSR1	34854713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.429000	0.66495	2.191000	0.70037	0.533000	0.62120	GTG		0.507	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		C	34888188	T	C	34888188	3	2	359	1	0	0	0	0	1	0	0	0	10600	1696	59	4	968	4	NPSR1	7	34888188	Missense_Mutation	SNP	T	TCGA-29-2432-01A-01D-1526-09	19417535	34888188	124250475	34	19663											
CCDC132	55610	genome.wustl.edu	37	7	92905560	92905560	+	Silent	SNP	A	A	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr7:92905560A>G	ENST00000305866.5	+	12	1013	c.885A>G	c.(883-885)ctA>ctG	p.L295L	CCDC132_ENST00000541136.1_Silent_p.L106L|CCDC132_ENST00000317751.6_Silent_p.L26L|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Silent_p.L295L|CCDC132_ENST00000544910.1_Silent_p.L265L	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	295						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTGGAACTATGTGCAGGAA	0.368																																																0			7											185	166	172					7																	92905560		2203	4300	6503	92743496	SO:0001819	synonymous_variant	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.885A>G	7.37:g.92905560A>G			92743496	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254067	0.22965	.	.	ENSG00000004766	ENST00000458707	.	.	.	5.59	-3.09	0.05331	.	.	.	.	.	T	0.40522	0.1120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33752	-0.9856	4	.	.	.	-11.9007	3.4272	0.07414	0.1468:0.1412:0.4661:0.2459	.	.	.	.	C	82	.	.	Y	+	2	0	CCDC132	92743496	0.932000	0.31603	0.971000	0.41717	0.985000	0.73830	0.020000	0.13466	-0.342000	0.08363	-0.256000	0.11100	TAT		0.368	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		G	92905560	A	G	92905560	2	3	359	1	0	0	0	0	0	0	0	1	2767	436	16	4		4	CCDC132	7	92905560	Silent	SNP	A	TCGA-29-2432-01A-01D-1526-09	58017372	92905560	66233103	35	19664											
NUP205	23165	genome.wustl.edu	37	7	135287641	135287641	+	Silent	SNP	A	A	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr7:135287641A>G	ENST00000285968.6	+	18	2627	c.2601A>G	c.(2599-2601)ctA>ctG	p.L867L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	867					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGGACCTTCTAAGAGAGAGTC	0.398																																																0			7											87	92	90					7																	135287641		2203	4300	6503	134938181	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2601A>G	7.37:g.135287641A>G			134938181	A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	CCDS34759.1																																																																																				0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			G	135287641	A	G	135287641	2	3	359	1	0	0	0	0	0	0	0	1	10759	349	13	4		4	NUP205	7	135287641	Silent	SNP	A	TCGA-29-2432-01A-01D-1526-09	42382081	135287641	23851022	36	19665											
PDE7A	5150	genome.wustl.edu	37	8	66639197	66639197	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr8:66639197G>A	ENST00000401827.3	-	9	1276	c.833C>T	c.(832-834)aCc>aTc	p.T278I	PDE7A_ENST00000518667.1_5'UTR|PDE7A_ENST00000396642.3_Missense_Mutation_p.T278I|PDE7A_ENST00000379419.4_Missense_Mutation_p.T252I	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	278	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CAGTACTGAGGTATTCTACAA	0.373																																																0			8											118	118	118					8																	66639197		2203	4300	6503	66801751	SO:0001583	missense	5150			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.833C>T	8.37:g.66639197G>A	ENSP00000385632:p.Thr278Ile		66801751	A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034543	0.54896	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642	T;T;T	0.81330	-1.48;-1.48;-1.48	5.53	4.65	0.58169	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.096899	0.64402	D	0.000001	T	0.74794	0.3763	N	0.20401	0.57	0.80722	D	1	B;B;P	0.43662	0.209;0.001;0.814	B;B;P	0.47626	0.209;0.017;0.552	T	0.76570	-0.2911	10	0.49607	T	0.09	.	13.8932	0.63753	0.0728:0.0:0.9272:0.0	.	278;278;252	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	I	278;252;278	ENSP00000385632:T278I;ENSP00000368730:T252I;ENSP00000379881:T278I	ENSP00000368730:T252I	T	-	2	0	PDE7A	66801751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.658000	0.74407	1.338000	0.45544	0.491000	0.48974	ACC		0.373	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			A	66639197	G	A	66639197	3	1	359	1	0	0	0	0	1	0	0	0	11651	1261	44	2	667	2	PDE7A	8	66639197	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09		66639197	79724825	37	19666											
C9orf66	157983	genome.wustl.edu	37	9	214631	214631	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:214631G>C	ENST00000382387.2	-	1	1262	c.766C>G	c.(766-768)Cga>Gga	p.R256G	DOCK8_ENST00000453981.1_5'Flank|DOCK8_ENST00000432829.2_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	256	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCAGTGGTCGCCTGTCGTCC	0.731																																																0			9											15	16	16					9																	214631		2199	4297	6496	204631	SO:0001583	missense	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.766C>G	9.37:g.214631G>C	ENSP00000371824:p.Arg256Gly		204631	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	.	4.059	0.008627	0.07912	.	.	ENSG00000183784	ENST00000382387	T	0.26373	1.74	3.94	-2.24	0.06909	.	.	.	.	.	T	0.22820	0.0551	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.16630	-1.0396	9	0.87932	D	0	.	4.1974	0.10450	0.1879:0.0:0.3706:0.4415	.	256	Q5T8R8	CI066_HUMAN	G	256	ENSP00000371824:R256G	ENSP00000371824:R256G	R	-	1	2	C9orf66	204631	0.016000	0.18221	0.040000	0.18447	0.057000	0.15508	-0.050000	0.11904	-0.603000	0.05767	0.430000	0.28490	CGA		0.731	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		C	214631	G	C	214631	3	2	359	1	0	0	0	0	1	0	0	0	2490	1095	38	3	125	3	C9orf66	9	214631	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09		214631	140998800	38	19667											
TYRP1	7306	genome.wustl.edu	37	9	12694160	12694160	+	Missense_Mutation	SNP	G	G	A	rs139670838		TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:12694160G>A	ENST00000388918.5	+	2	293	c.164G>A	c.(163-165)cGc>cAc	p.R55H	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_De_novo_Start_InFrame	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	55					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GGGACAGACCGCTGTGGCTCA	0.602									Oculocutaneous Albinism																																							0			9						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	54	47	50		164	-4.7	0.7	9	dbSNP_134	50	0,8600		0,0,4300	no	missense	TYRP1	NM_000550.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	55/538	12694160	2,13004	2203	4300	6503	12684160	SO:0001583	missense	7306	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.164G>A	9.37:g.12694160G>A	ENSP00000373570:p.Arg55His		12684160	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869555	0.33069	4.54E-4	0.0	ENSG00000107165	ENST00000473763;ENST00000388918	T;D	0.99113	2.34;-5.44	5.39	-4.72	0.03269	.	0.840244	0.10736	N	0.639992	D	0.96034	0.8708	L	0.50333	1.59	0.42059	D	0.991152	P	0.42123	0.771	B	0.34873	0.191	D	0.89133	0.3511	10	0.45353	T	0.12	-6.3906	7.2041	0.25897	0.2341:0.5333:0.1592:0.0735	.	55	P17643	TYRP1_HUMAN	H	55	ENSP00000419006:R55H;ENSP00000373570:R55H	ENSP00000373570:R55H	R	+	2	0	TYRP1	12684160	0.000000	0.05858	0.681000	0.30009	0.424000	0.31475	-0.346000	0.07760	-0.882000	0.03987	-0.253000	0.11424	CGC		0.602	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		A	12694160	G	A	12694160	3	1	359	1	0	0	0	0	1	0	0	0	16816	1087	38	1	166	1	TYRP1	9	12694160	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	12479529	12694160	128519271	39	19668											
PIGO	84720	genome.wustl.edu	37	9	35091645	35091645	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:35091645C>A	ENST00000378617.3	-	7	2633	c.2239G>T	c.(2239-2241)Gta>Tta	p.V747L	PIGO_ENST00000341666.3_Missense_Mutation_p.V747L|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	747					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCCCTGCTACAGCCCGAGGC	0.672																																																0			9											32	37	36					9																	35091645		2195	4284	6479	35081645	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2239G>T	9.37:g.35091645C>A	ENSP00000367880:p.Val747Leu		35081645	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630561	0.67015	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.59083	0.29;0.29	5.18	5.18	0.71444	.	0.239659	0.33959	N	0.004386	T	0.58524	0.2128	L	0.29908	0.895	0.80722	D	1	D	0.56968	0.978	P	0.51657	0.676	T	0.58758	-0.7580	10	0.44086	T	0.13	-9.4575	18.8819	0.92358	0.0:1.0:0.0:0.0	.	747	Q8TEQ8	PIGO_HUMAN	L	747	ENSP00000367880:V747L;ENSP00000339382:V747L	ENSP00000339382:V747L	V	-	1	0	PIGO	35081645	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	3.725000	0.54970	2.688000	0.91661	0.655000	0.94253	GTA		0.672	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		A	35091645	C	A	35091645	3	1	359	1	0	0	0	0	1	0	0	0	11894	478	17	3	1050	3	PIGO	9	35091645	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	22397485	35091645	106121786	40	19669											
STOML2	30968	genome.wustl.edu	37	9	35103081	35103081	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:35103081C>A	ENST00000356493.5	-	1	73	c.11G>T	c.(10-12)cGc>cTc	p.R4L	STOML2_ENST00000452248.2_Missense_Mutation_p.R4L|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	4					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCGCGCCGCGCGCGCCAGCAT	0.642																																																0			9											29	35	33					9																	35103081		2200	4299	6499	35093081	SO:0001583	missense	30968			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.11G>T	9.37:g.35103081C>A	ENSP00000348886:p.Arg4Leu		35093081	B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530942	0.85706	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98135	-3.5;-4.74	5.41	5.41	0.78517	.	0.127109	0.52532	D	0.000076	D	0.96281	0.8787	N	0.08118	0	0.46336	D	0.99899	D;D	0.60160	0.987;0.962	D;D	0.65010	0.931;0.931	D	0.96776	0.9572	10	0.72032	D	0.01	-7.4729	14.5769	0.68255	0.0:1.0:0.0:0.0	.	4;4	B4E1K7;Q9UJZ1	.;STML2_HUMAN	L	4	ENSP00000348886:R4L;ENSP00000395743:R4L	ENSP00000348886:R4L	R	-	2	0	STOML2	35093081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.704000	0.37857	2.826000	0.97356	0.561000	0.74099	CGC		0.642	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		A	35103081	C	A	35103081	3	1	359	1	0	0	0	0	1	0	0	0	15316	768	27	3	1099	3	STOML2	9	35103081	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	11436	35103081	106110350	41	19670											
TRPM3	80036	genome.wustl.edu	37	9	73461470	73461470	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:73461470A>G	ENST00000377111.2	-	4	743	c.500T>C	c.(499-501)cTc>cCc	p.L167P	TRPM3_ENST00000361823.5_Missense_Mutation_p.L14P|TRPM3_ENST00000377101.1_Missense_Mutation_p.L14P|TRPM3_ENST00000377106.1_Missense_Mutation_p.L14P|TRPM3_ENST00000408909.2_Missense_Mutation_p.L14P|TRPM3_ENST00000396283.1_Missense_Mutation_p.L14P|TRPM3_ENST00000377110.3_Missense_Mutation_p.L167P|TRPM3_ENST00000357533.2_Missense_Mutation_p.L169P|TRPM3_ENST00000396285.1_Missense_Mutation_p.L14P|TRPM3_ENST00000423814.3_Missense_Mutation_p.L169P|TRPM3_ENST00000358082.3_Missense_Mutation_p.L14P|TRPM3_ENST00000360823.2_Missense_Mutation_p.L14P|TRPM3_ENST00000396280.5_Missense_Mutation_p.L14P|TRPM3_ENST00000396292.4_Missense_Mutation_p.L14P|TRPM3_ENST00000377105.1_Missense_Mutation_p.L14P|TRPM3_ENST00000377097.3_Missense_Mutation_p.L14P	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	167					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGGTGTAAGAGGAGATCAGG	0.473																																																0			9											96	92	93					9																	73461470		2203	4300	6503	72651290	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.500T>C	9.37:g.73461470A>G	ENSP00000366315:p.Leu167Pro		72651290	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.530593|4.530593	0.85706|0.85706	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.06528|.	3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29|.	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84288|0.84288	0.5439|0.5439	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.76494|.	0.987;0.999;0.996;0.984;0.989;0.999;0.986;0.992;0.999|.	P;D;D;D;D;D;P;D;D|.	0.87578|.	0.836;0.983;0.959;0.921;0.919;0.998;0.836;0.928;0.998|.	D|D	0.87191|0.87191	0.2234|0.2234	10|5	0.87932|.	D|.	0|.	-6.6854|-6.6854	16.5285|16.5285	0.84344|0.84344	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	167;169;14;167;167;167;169;14;14|.	Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.|.	P|P	167;167;14;14;14;169;14;14;14;14;169;14;14;14;14|57	ENSP00000366315:L167P;ENSP00000366314:L167P;ENSP00000366310:L14P;ENSP00000354066:L14P;ENSP00000366309:L14P;ENSP00000350140:L169P;ENSP00000386127:L14P;ENSP00000379581:L14P;ENSP00000379587:L14P;ENSP00000350791:L14P;ENSP00000389542:L169P;ENSP00000366305:L14P;ENSP00000379579:L14P;ENSP00000355395:L14P|.	ENSP00000350140:L169P|.	L|S	-|-	2|1	0|0	TRPM3|TRPM3	72651290|72651290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.243000|9.243000	0.95416|0.95416	2.307000|2.307000	0.77673|0.77673	0.528000|0.528000	0.53228|0.53228	CTC|TCT		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		G	73461470	A	G	73461470	3	3	359	1	0	0	0	0	1	0	0	0	16587	304	11	4	4834	4	TRPM3	9	73461470	Missense_Mutation	SNP	A	TCGA-29-2432-01A-01D-1526-09	38358389	73461470	67751961	42	19671											
C9orf4	23732	genome.wustl.edu	37	9	111899877	111899877	+	Missense_Mutation	SNP	G	G	A	rs199731037		TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:111899877G>A	ENST00000561981.2	-	5	892	c.893C>T	c.(892-894)cCg>cTg	p.P298L		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	298						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TGAAGCCGGCGGTGAGTCTAT	0.388																																																0			9						G	LEU/PRO	0,4406		0,0,2203	117	122	120		893	5.7	1	9		120	3,8597	3.0+/-9.4	0,3,4297	no	missense	C9orf4	NM_014334.2	98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	298/345	111899877	3,13003	2203	4300	6503	110939698	SO:0001583	missense	23732			AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"chromosome 9 open reading frame 4"	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.893C>T	9.37:g.111899877G>A	ENSP00000477141:p.Pro298Leu		110939698	Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550107	0.86127	0.0	3.49E-4	ENSG00000136805	ENST00000374581	.	.	.	5.65	5.65	0.86999	DOMON domain (1);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58482	-0.7629	9	0.18276	T	0.48	-4.0204	19.7357	0.96202	0.0:0.0:1.0:0.0	.	298	Q9P0K9	CI004_HUMAN	L	298	.	ENSP00000363709:P298L	P	-	2	0	C9orf4	110939698	1.000000	0.71417	0.977000	0.42913	0.913000	0.54294	9.476000	0.97823	2.662000	0.90505	0.563000	0.77884	CCG		0.388	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		A	111899877	G	A	111899877	3	1	359	1	0	0	0	0	1	0	0	0	2480	1116	39	1	145	1	C9orf4	9	111899877	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	38438407	111899877	29313554	43	19672											
PAPPA	5069	genome.wustl.edu	37	9	118973935	118973935	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:118973935C>G	ENST00000328252.3	+	4	2011	c.1642C>G	c.(1642-1644)Cca>Gca	p.P548A	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	548	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTCTTGAACCCATCTTTCTA	0.502																																																0			9											125	111	115					9																	118973935		2203	4300	6503	118013756	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1642C>G	9.37:g.118973935C>G	ENSP00000330658:p.Pro548Ala		118013756	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932062	0.73442	.	.	ENSG00000182752	ENST00000328252	T	0.01981	4.52	5.64	5.64	0.86602	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.09247	0.0228	L	0.38953	1.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04825	-1.0924	10	0.87932	D	0	-9.2841	20.0666	0.97706	0.0:1.0:0.0:0.0	.	548	Q13219	PAPP1_HUMAN	A	548	ENSP00000330658:P548A	ENSP00000330658:P548A	P	+	1	0	PAPPA	118013756	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.744000	0.85034	2.826000	0.97356	0.561000	0.74099	CCA		0.502	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		G	118973935	C	G	118973935	3	3	359	1	0	0	0	0	1	0	0	0	11432	623	22	3	1656	3	PAPPA	9	118973935	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	7074058	118973935	22239496	44	19673											
GSN	2934	genome.wustl.edu	37	9	124079409	124079409	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:124079409G>A	ENST00000373818.4	+	7	1021	c.952G>A	c.(952-954)Gag>Aag	p.E318K	GSN_ENST00000436847.1_Missense_Mutation_p.E278K|GSN_ENST00000412819.1_Missense_Mutation_p.E267K|GSN_ENST00000394353.2_Missense_Mutation_p.E278K|GSN_ENST00000373808.2_Missense_Mutation_p.E267K|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000545652.1_Missense_Mutation_p.E275K|GSN_ENST00000373823.3_Missense_Mutation_p.E267K|GSN_ENST00000341272.2_Missense_Mutation_p.E267K|GSN_ENST00000373807.1_Missense_Mutation_p.E49K|GSN_ENST00000449733.1_Missense_Mutation_p.E267K	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	318					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CGTGGCTGATGAGAACCCCTT	0.587																																																0			9											143	132	136					9																	124079409		2203	4300	6503	123119230	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.952G>A	9.37:g.124079409G>A	ENSP00000362924:p.Glu318Lys		123119230	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039958	0.55003	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.42	4.53	0.55603	Gelsolin domain (1);	0.097462	0.64402	D	0.000001	T	0.40119	0.1104	N	0.22421	0.69	0.53005	D	0.999962	B;B;B;B;P	0.34826	0.053;0.043;0.031;0.065;0.471	B;B;B;B;B	0.40134	0.034;0.02;0.041;0.102;0.32	T	0.21759	-1.0236	10	0.29301	T	0.29	-34.5812	9.1798	0.37134	0.0771:0.1454:0.7775:0.0	.	291;275;278;49;318	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	K	267;278;278;267;267;267;267;251;241;275;318;49	ENSP00000362929:E267K;ENSP00000411293:E278K;ENSP00000377882:E278K;ENSP00000409358:E267K;ENSP00000416586:E267K;ENSP00000340888:E267K;ENSP00000362914:E267K;ENSP00000445823:E275K;ENSP00000362924:E318K;ENSP00000362913:E49K	ENSP00000340888:E267K	E	+	1	0	GSN	123119230	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.346000	0.79347	1.294000	0.44707	0.561000	0.74099	GAG		0.587	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		A	124079409	G	A	124079409	3	1	359	1	0	0	0	0	1	0	0	0	6825	1291	45	2	1006	2	GSN	9	124079409	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	5105474	124079409	17134022	45	19674											
STXBP1	6812	genome.wustl.edu	37	9	130423445	130423445	+	Silent	SNP	G	G	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:130423445G>T	ENST00000373299.1	+	6	505	c.390G>T	c.(388-390)ctG>ctT	p.L130L	STXBP1_ENST00000373302.3_Silent_p.L130L	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	130					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCAAAACTCTGACGGAAATCA	0.468																																																0			9											119	112	114					9																	130423445		2203	4300	6503	129463266	SO:0001819	synonymous_variant	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.390G>T	9.37:g.130423445G>T			129463266	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	ENST00000373299.1	37	CCDS35146.1																																																																																				0.468	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		T	130423445	G	T	130423445	2	4	359	1	0	0	0	0	0	0	0	1	15354	1277	45	3		3	STXBP1	9	130423445	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09	6344036	130423445	10789986	46	19675											
OLFM1	10439	genome.wustl.edu	37	9	137987847	137987847	+	Silent	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr9:137987847C>T	ENST00000371793.3	+	3	689	c.438C>T	c.(436-438)caC>caT	p.H146H	OLFM1_ENST00000277415.11_Silent_p.H128H|OLFM1_ENST00000392991.4_Silent_p.H146H|OLFM1_ENST00000371796.3_Silent_p.H119H|OLFM1_ENST00000252854.4_Silent_p.H128H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	146					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ATAAGCAACACCTGGCCAGGC	0.552																																																0			9											270	193	219					9																	137987847		2202	4300	6502	137127668	SO:0001819	synonymous_variant	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.438C>T	9.37:g.137987847C>T			137127668	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	c	8.126	0.782033	0.16189	.	.	ENSG00000130558	ENST00000545657	.	.	.	4.8	2.51	0.30379	.	.	.	.	.	T	0.59649	0.2209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56300	-0.8002	4	.	.	.	.	10.3449	0.43901	0.0:0.7434:0.0:0.2566	.	.	.	.	S	6	.	.	P	+	1	0	OLFM1	137127668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.583000	0.36579	1.016000	0.39470	0.627000	0.83407	CCT		0.552	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		T	137987847	C	T	137987847	2	4	359	1	0	0	0	0	0	0	0	1	10852	506	18	2		2	OLFM1	9	137987847	Silent	SNP	C	TCGA-29-2432-01A-01D-1526-09	7564402	137987847	3225584	47	19676											
GJD4	219770	genome.wustl.edu	37	10	35897090	35897090	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr10:35897090G>T	ENST00000321660.1	+	2	807	c.649G>T	c.(649-651)Gtc>Ttc	p.V217F	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	217					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGCCGACCTGGTCTGCAGCCT	0.701																																																0			10											16	11	12					10																	35897090		2103	4148	6251	35937096	SO:0001583	missense	219770			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"Ion channels / Gap junction proteins (connexins)"	23296	protein-coding gene	gene with protein product	"connexin 40.1"	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.649G>T	10.37:g.35897090G>T	ENSP00000315070:p.Val217Phe		35937096	Q8N2R7	Missense_Mutation	SNP	ENST00000321660.1	37	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680251	0.68042	.	.	ENSG00000177291	ENST00000321660	D	0.95137	-3.62	5.56	-7.44	0.01379	Gap junction protein, cysteine-rich domain (1);	1.560890	0.03420	N	0.206101	D	0.89760	0.6808	N	0.17901	0.54	0.09310	N	1	D	0.60575	0.988	P	0.53988	0.739	T	0.79864	-0.1623	10	0.06625	T	0.88	.	8.6688	0.34137	0.3615:0.3938:0.2448:0.0	.	217	Q96KN9	CXD4_HUMAN	F	217	ENSP00000315070:V217F	ENSP00000315070:V217F	V	+	1	0	GJD4	35937096	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.334000	0.02665	-1.355000	0.02186	-0.136000	0.14681	GTC		0.701	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		T	35897090	G	T	35897090	3	4	359	1	0	0	0	0	1	0	0	0	6419	1261	44	3	655	3	GJD4	10	35897090	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09		35897090	99637657	48	19677											
RASSF4	83937	genome.wustl.edu	37	10	45480393	45480393	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr10:45480393T>C	ENST00000340258.5	+	6	619	c.506T>C	c.(505-507)aTc>aCc	p.I169T	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000334940.6_Missense_Mutation_p.I178T|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGGTTCTCTATCAACGGCCAC	0.647																																																0			10											63	75	71					10																	45480393		2203	4300	6503	44800399	SO:0001583	missense	83937			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.506T>C	10.37:g.45480393T>C	ENSP00000339692:p.Ile169Thr		44800399	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534689	0.85812	.	.	ENSG00000107551	ENST00000334940;ENST00000340258;ENST00000374411	T;T	0.51817	0.69;0.69	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.71533	-0.4564	10	0.62326	D	0.03	-36.3478	14.1438	0.65336	0.0:0.0:0.0:1.0	.	178;260;169	Q9H2L5-2;Q59FL4;Q9H2L5	.;.;RASF4_HUMAN	T	178;169;260	ENSP00000334543:I178T;ENSP00000339692:I169T	ENSP00000334543:I178T	I	+	2	0	RASSF4	44800399	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.530000	0.81962	2.216000	0.71823	0.533000	0.62120	ATC		0.647	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		C	45480393	T	C	45480393	3	2	359	1	0	0	0	0	1	0	0	0	13091	1435	50	4	524	4	RASSF4	10	45480393	Missense_Mutation	SNP	T	TCGA-29-2432-01A-01D-1526-09	9583303	45480393	90054354	49	19678											
PGBD3	267004	genome.wustl.edu	37	10	50724735	50724735	+	Silent	SNP	G	G	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr10:50724735G>T	ENST00000374127.3	-	2	627	c.426C>A	c.(424-426)ccC>ccA	p.P142P	PGBD3_ENST00000508005.2_Silent_p.P142P|ERCC6-PGBD3_ENST00000515869.1_Silent_p.P610P|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Silent_p.P610P|PGBD3_ENST00000603152.1_Silent_p.P610P	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	142										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GAATTTCTGTGGGAGTTCTCA	0.403																																																0			10											142	136	138					10																	50724735		2203	4300	6503	50394741	SO:0001819	synonymous_variant	267004			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.426C>A	10.37:g.50724735G>T			50394741	B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	CCDS7230.1																																																																																				0.403	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			T	50724735	G	T	50724735	2	4	359	1	0	0	0	0	0	0	0	1	11782	1335	47	3		3	PGBD3	10	50724735	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09	5244342	50724735	84810012	50	19679											
CALHM2	51063	genome.wustl.edu	37	10	105209181	105209181	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr10:105209181C>T	ENST00000260743.5	-	3	1041	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	CALHM2_ENST00000393235.1_Missense_Mutation_p.R173Q|CALHM2_ENST00000494180.1_5'Flank|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.R173Q	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	173					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GACCTCCTCCCGGAAGTCTGA	0.602																																																0			10											63	65	64					10																	105209181		2202	4298	6500	105199171	SO:0001583	missense	51063			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.518G>A	10.37:g.105209181C>T	ENSP00000260743:p.Arg173Gln		105199171	D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610934	0.46631	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.18657	2.2;2.2;2.2	5.45	2.22	0.28083	.	0.419984	0.23239	N	0.050361	T	0.13927	0.0337	L	0.35542	1.07	0.27414	N	0.954472	B;B;B	0.28605	0.043;0.014;0.217	B;B;B	0.24848	0.008;0.002;0.056	T	0.13308	-1.0514	10	0.45353	T	0.12	-35.5257	7.6922	0.28575	0.0:0.5628:0.0:0.4372	.	173;173;173	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	Q	173	ENSP00000358803:R173Q;ENSP00000260743:R173Q;ENSP00000376927:R173Q	ENSP00000260743:R173Q	R	-	2	0	CALHM2	105199171	0.974000	0.33945	1.000000	0.80357	0.887000	0.51463	0.723000	0.25939	0.689000	0.31550	-0.215000	0.12644	CGG		0.602	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		T	105209181	C	T	105209181	3	4	359	1	0	0	0	0	1	0	0	0	2583	652	23	1	461	1	CALHM2	10	105209181	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	54484446	105209181	30325566	51	19680											
INPP5F	22876	genome.wustl.edu	37	10	121567542	121567542	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr10:121567542C>G	ENST00000361976.2	+	13	1705	c.1539C>G	c.(1537-1539)agC>agG	p.S513R		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.		Y -> C (in OCRL; dbSNP:rs137853847). {ECO:0000269|PubMed:9682219}.		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ACTCCATTAGCAGACAGTATG	0.443																																																0			10											110	97	101					10																	121567542		2203	4300	6503	121557532	SO:0001583	missense	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1539C>G	10.37:g.121567542C>G	ENSP00000354519:p.Ser513Arg		121557532	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855323	0.71719	.	.	ENSG00000198825	ENST00000361976	T	0.24908	1.83	5.56	1.52	0.23074	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71151	-0.4676	10	0.87932	D	0	-19.0375	9.5361	0.39224	0.0:0.7126:0.0:0.2874	.	513	Q9Y2H2	SAC2_HUMAN	R	513	ENSP00000354519:S513R	ENSP00000354519:S513R	S	+	3	2	INPP5F	121557532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.675000	0.37555	0.362000	0.24319	0.591000	0.81541	AGC		0.443	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		G	121567542	C	G	121567542	3	3	359	1	0	0	0	0	1	0	0	0	7758	709	25	3	1589	3	INPP5F	10	121567542	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	16358361	121567542	13967205	52	19681											
C10orf90	118611	genome.wustl.edu	37	10	128147616	128147616	+	Silent	SNP	A	A	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr10:128147616A>C	ENST00000284694.7	-	6	2010	c.1890T>G	c.(1888-1890)ccT>ccG	p.P630P	C10orf90_ENST00000544758.1_Silent_p.P727P|C10orf90_ENST00000480379.1_Silent_p.P34P|C10orf90_ENST00000454341.1_Silent_p.P533P|C10orf90_ENST00000356858.3_Silent_p.P583P	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	630	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TACCACTCAGAGGATGGGGAA	0.587																																																0			10											122	94	104					10																	128147616		2203	4300	6503	128137606	SO:0001819	synonymous_variant	118611			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1890T>G	10.37:g.128147616A>C			128137606	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	A	0.742	-0.775857	0.02951	.	.	ENSG00000154493	ENST00000424927	.	.	.	5.01	-10.0	0.00425	.	.	.	.	.	T	0.31231	0.0790	.	.	.	0.48762	D	0.999706	.	.	.	.	.	.	T	0.38735	-0.9647	4	.	.	.	-19.3055	0.9718	0.01417	0.1579:0.2788:0.1968:0.3665	.	.	.	.	R	173	.	.	L	-	2	0	C10orf90	128137606	0.232000	0.23762	0.018000	0.16275	0.166000	0.22503	-0.683000	0.05179	-2.114000	0.00832	-0.301000	0.09380	CTC		0.587	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		C	128147616	A	C	128147616	2	2	359	1	0	0	0	0	0	0	0	1	1623	291	11	5		5	C10orf90	10	128147616	Silent	SNP	A	TCGA-29-2432-01A-01D-1526-09	6580074	128147616	7387131	53	19682											
CTSF	8722	genome.wustl.edu	37	11	66332382	66332382	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr11:66332382C>T	ENST00000310325.5	-	9	1250	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	381					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCAGCTCCACGGAGTCATTG	0.607																																																0			11											147	137	140					11																	66332382		2200	4295	6495	66088958	SO:0001583	missense	8722			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1141G>A	11.37:g.66332382C>T	ENSP00000310832:p.Val381Met		66088958	B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.979084|3.979084	0.74360|0.74360	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325	.|T	.|0.24538	.|1.85	4.56|4.56	2.68|2.68	0.31781|0.31781	.|Peptidase C1A, papain C-terminal (2);	.|0.124411	.|0.53938	.|N	.|0.000056	T|T	0.35828|0.35828	0.0945|0.0945	M|M	0.75150|0.75150	2.29|2.29	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.65815	.|0.995	.|P	.|0.51135	.|0.66	T|T	0.14699|0.14699	-1.0463|-1.0463	5|10	.|0.52906	.|T	.|0.07	.|.	8.8176|8.8176	0.35004|0.35004	0.0:0.8135:0.0:0.1865|0.0:0.8135:0.0:0.1865	.|.	.|381	.|Q9UBX1	.|CATF_HUMAN	H|M	228|381	.|ENSP00000310832:V381M	.|ENSP00000310832:V381M	R|V	-|-	2|1	0|0	CTSF|CTSF	66088958|66088958	0.975000|0.975000	0.34042|0.34042	0.889000|0.889000	0.34880|0.34880	0.943000|0.943000	0.58893|0.58893	2.423000|2.423000	0.44705|0.44705	0.658000|0.658000	0.30925|0.30925	0.462000|0.462000	0.41574|0.41574	CGT|GTG		0.607	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		T	66332382	C	T	66332382	3	4	359	1	0	0	0	0	1	0	0	0	4034	536	19	1	333	1	CTSF	11	66332382	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09		66332382	68674134	54	19683											
C2CD3	26005	genome.wustl.edu	37	11	73796734	73796734	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr11:73796734G>C	ENST00000334126.7	-	21	4065	c.3839C>G	c.(3838-3840)gCc>gGc	p.A1280G	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1280G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1280	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TAGGAAACAGGCCTCTCCACT	0.473																																																0			11											77	72	74					11																	73796734		2200	4293	6493	73474382	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3839C>G	11.37:g.73796734G>C	ENSP00000334379:p.Ala1280Gly		73474382	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	G	31	5.074333	0.94000	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.15718	2.79;2.81;2.4	5.95	5.95	0.96441	.	0.163088	0.53938	D	0.000042	T	0.25791	0.0628	L	0.43152	1.355	0.38405	D	0.945774	P	0.48503	0.911	P	0.47941	0.562	T	0.00458	-1.1727	10	0.49607	T	0.09	-8.5082	19.9647	0.97261	0.0:0.0:1.0:0.0	.	1280	Q4AC94-1	.	G	1280;1280;1280;88	ENSP00000334379:A1280G;ENSP00000323339:A1280G;ENSP00000388750:A88G	ENSP00000323339:A1280G	A	-	2	0	C2CD3	73474382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.271000	0.78506	2.811000	0.96726	0.655000	0.94253	GCC		0.473	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		C	73796734	G	C	73796734	3	2	359	1	0	0	0	0	1	0	0	0	2154	1203	42	3	2096	3	C2CD3	11	73796734	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	7464352	73796734	61209782	55	19684											
FGD4	121512	genome.wustl.edu	37	12	32755149	32755149	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr12:32755149G>C	ENST00000427716.2	+	7	1315	c.891G>C	c.(889-891)aaG>aaC	p.K297N	FGD4_ENST00000534526.2_Missense_Mutation_p.K434N|FGD4_ENST00000531134.1_Missense_Mutation_p.K382N|FGD4_ENST00000546442.1_Missense_Mutation_p.K204N|FGD4_ENST00000525053.1_Missense_Mutation_p.K409N|FGD4_ENST00000381025.3_Missense_Mutation_p.K49N|FGD4_ENST00000266482.3_Missense_Mutation_p.K49N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	297	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATTCCTTAAGATGTATGGAG	0.318																																																0			12											129	137	134					12																	32755149		2203	4300	6503	32646416	SO:0001583	missense	121512			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.891G>C	12.37:g.32755149G>C	ENSP00000394487:p.Lys297Asn		32646416	Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059750	0.76074	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.02	4.11	0.48088	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000045	D	0.82879	0.5133	M	0.86740	2.835	0.58432	D	0.999995	D;D;D;D	0.89917	0.995;0.999;1.0;0.993	D;D;D;D	0.81914	0.983;0.995;0.99;0.923	D	0.86116	0.1565	10	0.87932	D	0	-22.2314	14.3268	0.66526	0.0753:0.0:0.9247:0.0	.	409;382;297;49	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	N	434;382;297;49;204;409;49	ENSP00000449273:K434N;ENSP00000431323:K382N;ENSP00000394487:K297N;ENSP00000266482:K49N;ENSP00000446695:K204N;ENSP00000433666:K409N;ENSP00000370413:K49N	ENSP00000266482:K49N	K	+	3	2	FGD4	32646416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.336000	0.43938	2.495000	0.84180	0.655000	0.94253	AAG		0.318	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		C	32755149	G	C	32755149	3	2	359	1	0	0	0	0	1	0	0	0	5835	933	33	3	909	3	FGD4	12	32755149	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09		32755149	101096746	56	19685											
FAM113B	91523	genome.wustl.edu	37	12	47629392	47629392	+	Silent	SNP	G	G	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr12:47629392G>T	ENST00000546455.1	+	4	1277	c.546G>T	c.(544-546)cgG>cgT	p.R182R	PCED1B_ENST00000432328.1_Silent_p.R182R|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	182							hydrolase activity (GO:0016787)										CCAAGCTCCGGCGGCAGAAGG	0.592																																																0			12											30	28	29					12																	47629392		2203	4297	6500	45915659	SO:0001819	synonymous_variant	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.546G>T	12.37:g.47629392G>T			45915659	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1																																																																																				0.592	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		T	47629392	G	T	47629392	2	4	359	1	0	0	0	0	0	0	0	1	5402	1190	42	3		3	FAM113B	12	47629392	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09	14874243	47629392	86222503	57	19686											
VDR	7421	genome.wustl.edu	37	12	48238764	48238764	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr12:48238764G>A	ENST00000395324.2	-	10	1317	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	VDR_ENST00000550325.1_Missense_Mutation_p.A400V|VDR_ENST00000549336.1_Missense_Mutation_p.A350V|VDR_ENST00000535672.1_Missense_Mutation_p.A318V|VDR_ENST00000229022.3_Missense_Mutation_p.A350V			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	350	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CTCAATCAGCGCGGCGTCCTG	0.657																																																0			12											97	103	101					12																	48238764		2203	4300	6503	46525031	SO:0001583	missense	7421			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1049C>T	12.37:g.48238764G>A	ENSP00000378734:p.Ala350Val		46525031	B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436594	0.25813	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	4.05	3.07	0.35406	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.696409	0.12877	N	0.431746	D	0.93507	0.7928	L	0.51422	1.61	0.09310	N	1	B;B;B	0.23316	0.028;0.004;0.083	B;B;B	0.18871	0.023;0.023;0.011	D	0.85972	0.1477	10	0.34782	T	0.22	.	10.745	0.46175	0.0:0.0:0.7243:0.2757	.	318;350;400	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	V	350;350;350;400;318	ENSP00000378734:A350V;ENSP00000229022:A350V;ENSP00000449573:A350V;ENSP00000447173:A400V;ENSP00000442145:A318V	ENSP00000229022:A350V	A	-	2	0	VDR	46525031	0.044000	0.20184	0.001000	0.08648	0.027000	0.11550	2.277000	0.43417	0.852000	0.35287	0.462000	0.41574	GCG		0.657	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			A	48238764	G	A	48238764	3	1	359	1	0	0	0	0	1	0	0	0	17149	1087	38	1	238	1	VDR	12	48238764	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	609372	48238764	85613131	58	19687											
P2RX7	5027	genome.wustl.edu	37	12	121622368	121622368	+	Silent	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr12:121622368C>G	ENST00000546057.1	+	13	1694	c.1551C>G	c.(1549-1551)gtC>gtG	p.V517V	RP11-340F14.5_ENST00000569999.1_RNA|P2RX7_ENST00000328963.5_Silent_p.V347V|P2RX7_ENST00000535250.1_Silent_p.V427V|P2RX7_ENST00000541446.1_Silent_p.V228V|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	517					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAAGCTGGTCCTGTCCAGAC	0.617																																																0			12											37	34	35					12																	121622368		2203	4300	6503	120106751	SO:0001819	synonymous_variant	5027			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1551C>G	12.37:g.121622368C>G			120106751	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	CCDS9213.1																																																																																				0.617	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		G	121622368	C	G	121622368	2	3	359	1	0	0	0	0	0	0	0	1	11345	842	30	3		3	P2RX7	12	121622368	Silent	SNP	C	TCGA-29-2432-01A-01D-1526-09	73383604	121622368	12229527	59	19688											
AP1G2	8906	genome.wustl.edu	37	14	24030606	24030606	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr14:24030606T>C	ENST00000308724.5	-	18	2647	c.1892A>G	c.(1891-1893)gAt>gGt	p.D631G	RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.D631G	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	631					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGAAGCCCCATCCAGGAGATC	0.617																																																0			14											53	53	53					14																	24030606		2203	4300	6503	23100446	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1892A>G	14.37:g.24030606T>C	ENSP00000312442:p.Asp631Gly		23100446	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	T	9.809	1.182540	0.21870	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852;ENST00000554477	T;T	0.16196	2.36;2.36	5.73	4.55	0.56014	Clathrin adaptor, gamma-adaptin, appendage (1);	0.522587	0.20495	N	0.091217	T	0.08891	0.0220	N	0.19112	0.55	0.31292	N	0.689367	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.29119	-1.0022	10	0.02654	T	1	-6.0601	8.8576	0.35238	0.0:0.0863:0.0:0.9137	.	631;486	O75843;Q86V28	AP1G2_HUMAN;.	G	631;631;400;486;93	ENSP00000312442:D631G;ENSP00000380309:D631G	ENSP00000312442:D631G	D	-	2	0	AP1G2	23100446	0.882000	0.30256	0.993000	0.49108	0.141000	0.21300	1.500000	0.35682	0.956000	0.37904	0.459000	0.35465	GAT		0.617	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		C	24030606	T	C	24030606	3	2	359	1	0	0	0	0	1	0	0	0	733	1435	50	4	481	4	AP1G2	14	24030606	Missense_Mutation	SNP	T	TCGA-29-2432-01A-01D-1526-09		24030606	83318934	60	19689											
SPTB	6710	genome.wustl.edu	37	14	65235790	65235790	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr14:65235790T>C	ENST00000389721.5	-	28	6016	c.5984A>G	c.(5983-5985)aAt>aGt	p.N1995S	SPTB_ENST00000556626.1_Missense_Mutation_p.N1995S|SPTB_ENST00000542895.1_Missense_Mutation_p.N1995S|SPTB_ENST00000389720.3_Missense_Mutation_p.N1995S|SPTB_ENST00000389722.3_Missense_Mutation_p.N1995S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1995					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCACTTCTCATTCATCTCTTT	0.597																																																0			14											145	144	144					14																	65235790		2203	4300	6503	64305543	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5984A>G	14.37:g.65235790T>C	ENSP00000374371:p.Asn1995Ser		64305543	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	T	8.160	0.789403	0.16258	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.51	1.51	0.23008	.	0.387965	0.30930	N	0.008587	T	0.30103	0.0754	N	0.22421	0.69	0.29810	N	0.831727	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.0	T	0.17992	-1.0351	10	0.29301	T	0.29	.	10.0784	0.42375	0.662:0.0:0.0:0.3379	.	779;1995;1999	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	S	1999;1995;779;660;1995;1995;1995;1995	ENSP00000374372:N1995S;ENSP00000451324:N660S;ENSP00000451752:N1995S;ENSP00000374371:N1995S;ENSP00000443882:N1995S;ENSP00000374370:N1995S	ENSP00000334218:N779S	N	-	2	0	SPTB	64305543	0.996000	0.38824	0.530000	0.27963	0.970000	0.65996	3.976000	0.56867	0.363000	0.24346	0.454000	0.30748	AAT		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			C	65235790	T	C	65235790	3	2	359	1	0	0	0	0	1	0	0	0	15120	1493	52	4	1103	4	SPTB	14	65235790	Missense_Mutation	SNP	T	TCGA-29-2432-01A-01D-1526-09	41205184	65235790	42113750	61	19690											
MAP3K9	4293	genome.wustl.edu	37	14	71275547	71275547	+	Silent	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr14:71275547G>A	ENST00000554752.2	-	1	341	c.342C>T	c.(340-342)cgC>cgT	p.R114R	MAP3K9_ENST00000381250.4_Silent_p.R114R|MAP3K9_ENST00000555993.2_Silent_p.R114R|RP6-65G23.3_ENST00000557691.1_lincRNA	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	114	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGAAGGCGCTGCGCGGGGTCA	0.701																																					GBM(114;411 1587 13539 28235 50070)											0			14											12	13	13					14																	71275547		2131	4238	6369	70345300	SO:0001819	synonymous_variant	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.342C>T	14.37:g.71275547G>A			70345300	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37																																																																																					0.701	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			A	71275547	G	A	71275547	2	1	359	1	0	0	0	0	0	0	0	1	9257	1306	46	2		2	MAP3K9	14	71275547	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09	6039757	71275547	36073993	62	19691											
ESRRB	2103	genome.wustl.edu	37	14	76905769	76905769	+	Missense_Mutation	SNP	T	T	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr14:76905769T>A	ENST00000509242.1	+	3	171	c.73T>A	c.(73-75)Tcg>Acg	p.S25T	ESRRB_ENST00000380887.2_Missense_Mutation_p.S25T|ESRRB_ENST00000556177.1_Missense_Mutation_p.S25T|ESRRB_ENST00000261532.7_Missense_Mutation_p.S25T|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	25					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CAGCCCGTCCTCGGGCATCGA	0.667																																																0			14											32	34	33					14																	76905769		2188	4285	6473	75975522	SO:0001583	missense	2103			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.73T>A	14.37:g.76905769T>A	ENSP00000422488:p.Ser25Thr		75975522	A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.817821	0.90790	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.93133	-3.17;-3.17;-3.14;-3.17;-3.14	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93976	0.8071	M	0.64997	1.995	0.80722	D	1	P;P	0.47910	0.902;0.902	P;P	0.50791	0.55;0.65	D	0.94263	0.7504	10	0.59425	D	0.04	.	14.5256	0.67887	0.0:0.0:0.0:1.0	.	25;30	Q5F0P7;E7EWD9	.;.	T	30;25;25;25;25	ENSP00000424992:S30T;ENSP00000422488:S25T;ENSP00000451658:S25T;ENSP00000370270:S25T;ENSP00000261532:S25T	ENSP00000261532:S25T	S	+	1	0	ESRRB	75975522	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.956000	0.87863	1.844000	0.53588	0.533000	0.62120	TCG		0.667	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			A	76905769	T	A	76905769	3	1	359	1	0	0	0	0	1	0	0	0	5261	1551	54	5	75	5	ESRRB	14	76905769	Missense_Mutation	SNP	T	TCGA-29-2432-01A-01D-1526-09	5630222	76905769	30443771	63	19692											
MTA1	9112	genome.wustl.edu	37	14	105929881	105929881	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr14:105929881C>G	ENST00000331320.7	+	12	1283	c.1069C>G	c.(1069-1071)Ccc>Gcc	p.P357A	MTA1_ENST00000405646.1_Missense_Mutation_p.P340A|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Missense_Mutation_p.P357A	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	357					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGTTTATATTCCCAACTAGTA	0.567																																																0			14											61	64	63					14																	105929881		2203	4300	6503	105000926	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1069C>G	14.37:g.105929881C>G	ENSP00000333633:p.Pro357Ala		105000926	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639951	0.87760	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050	T;T;T;T	0.36878	1.25;1.23;1.23;1.24	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.945	T	0.65471	-0.6160	10	0.87932	D	0	-25.2015	15.2768	0.73748	0.0:1.0:0.0:0.0	.	149;357	Q59FW1;Q13330	.;MTA1_HUMAN	A	266;357;357;340;149	ENSP00000333633:P357A;ENSP00000385702:P357A;ENSP00000384180:P340A;ENSP00000394106:P149A	ENSP00000333633:P357A	P	+	1	0	MTA1	105000926	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.689000	0.84165	2.005000	0.58758	0.563000	0.77884	CCC		0.567	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			G	105929881	C	G	105929881	3	3	359	1	0	0	0	0	1	0	0	0	9908	855	30	3	1115	3	MTA1	14	105929881	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	29024112	105929881	1419659	64	19693											
MAPKBP1	23005	genome.wustl.edu	37	15	42107468	42107468	+	Silent	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr15:42107468G>A	ENST00000456763.2	+	12	1396	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E	MAPKBP1_ENST00000221214.6_Silent_p.E277E|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000514566.1_Silent_p.E394E|MAPKBP1_ENST00000457542.2_Silent_p.E394E	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	400										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCTACCCCGAGGTGAAGGATA	0.572																																																0			15											88	78	81					15																	42107468		2203	4300	6503	39894760	SO:0001819	synonymous_variant	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1200G>A	15.37:g.42107468G>A			39894760	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	CCDS45239.1																																																																																				0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		A	42107468	G	A	42107468	2	1	359	1	0	0	0	0	0	0	0	1	9292	991	35	2		2	MAPKBP1	15	42107468	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09		42107468	60423924	65	19694											
BAIAP3	8938	genome.wustl.edu	37	16	1394521	1394521	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr16:1394521G>C	ENST00000324385.5	+	18	1917	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	BAIAP3_ENST00000397489.1_Missense_Mutation_p.E569Q|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E552Q|BAIAP3_ENST00000568887.1_Missense_Mutation_p.E524Q|BAIAP3_ENST00000562208.1_Missense_Mutation_p.E529Q|BAIAP3_ENST00000421665.2_Missense_Mutation_p.E516Q|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E569Q	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	587					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GAGTCCCCGAGAGCAGGTGCA	0.607																																																0			16											110	119	116					16																	1394521		2199	4300	6499	1334522	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1759G>C	16.37:g.1394521G>C	ENSP00000324510:p.Glu587Gln		1334522	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186208	0.21870	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72051	-0.61;-0.6;-0.62;-0.6;-0.58	4.17	3.2	0.36748	.	0.627923	0.16942	N	0.193222	T	0.59514	0.2199	L	0.44542	1.39	0.39948	D	0.974504	P;P;P;P	0.40398	0.684;0.498;0.716;0.679	B;B;B;B	0.38106	0.147;0.202;0.265;0.241	T	0.56282	-0.8005	10	0.35671	T	0.21	-17.4552	8.5606	0.33509	0.114:0.0:0.886:0.0	.	516;529;587;569	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	Q	552;569;587;569;516	ENSP00000407242:E552Q;ENSP00000380625:E569Q;ENSP00000324510:E587Q;ENSP00000380626:E569Q;ENSP00000409533:E516Q	ENSP00000324510:E587Q	E	+	1	0	BAIAP3	1334522	0.978000	0.34361	0.995000	0.50966	0.133000	0.20885	2.272000	0.43373	0.837000	0.34925	0.491000	0.48974	GAG		0.607	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			C	1394521	G	C	1394521	3	2	359	1	0	0	0	0	1	0	0	0	1304	943	33	3	1829	3	BAIAP3	16	1394521	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09		1394521	88960232	66	19695											
ABCC6	368	genome.wustl.edu	37	16	16291943	16291943	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr16:16291943G>C	ENST00000205557.7	-	10	1302	c.1273C>G	c.(1273-1275)Ctc>Gtc	p.L425V	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	425	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TTGAGGTAGAGGACGCTCTCG	0.612																																																0			16											67	48	55					16																	16291943		2197	4300	6497	16199444	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1273C>G	16.37:g.16291943G>C	ENSP00000205557:p.Leu425Val		16199444	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.518218	0.00967	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.91577	-2.87;-2.87	4.4	-8.71	0.00848	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.787890	0.03711	N	0.250191	T	0.70482	0.3229	N	0.03948	-0.315	0.34019	D	0.652381	B;B	0.12630	0.001;0.006	B;B	0.15052	0.005;0.012	T	0.61372	-0.7076	10	0.07990	T	0.79	.	4.5563	0.12138	0.0802:0.3505:0.1242:0.4451	.	437;425	F5GWQ0;O95255	.;MRP6_HUMAN	V	425;425;437	ENSP00000205557:L425V;ENSP00000405002:L425V	ENSP00000205557:L425V	L	-	1	0	ABCC6	16199444	0.083000	0.21467	0.019000	0.16419	0.130000	0.20726	-0.037000	0.12164	-1.072000	0.03141	-1.083000	0.02208	CTC		0.612	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			C	16291943	G	C	16291943	3	2	359	1	0	0	0	0	1	0	0	0	57	1000	35	3	3326	3	ABCC6	16	16291943	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	14897422	16291943	74062810	67	19696											
PRKCB	5579	genome.wustl.edu	37	16	24202459	24202459	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr16:24202459G>A	ENST00000321728.7	+	16	1946	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	PRKCB_ENST00000303531.7_Missense_Mutation_p.E591K	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	591	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)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ACCTGAAGGCGAACGTGATAT	0.433																																																0			16											106	104	104					16																	24202459		2197	4300	6497	24109960	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.1771G>A	16.37:g.24202459G>A	ENSP00000318315:p.Glu591Lys		24109960	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316551	0.95655	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.53206	0.63;0.63	5.79	5.79	0.91817	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	0.60051	0.2239	L	0.42245	1.32	0.80722	D	1	D;D	0.64830	0.957;0.994	P;P	0.61533	0.602;0.89	T	0.55630	-0.8111	10	0.42905	T	0.14	.	18.5987	0.91239	0.0:0.0:1.0:0.0	.	591;591	P05771-2;P05771	.;KPCB_HUMAN	K	591	ENSP00000318315:E591K;ENSP00000305355:E591K	ENSP00000305355:E591K	E	+	1	0	PRKCB	24109960	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	9.357000	0.97099	2.744000	0.94065	0.650000	0.86243	GAA		0.433	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		A	24202459	G	A	24202459	3	1	359	1	0	0	0	0	1	0	0	0	12511	1059	37	1	1833	1	PRKCB	16	24202459	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	7910516	24202459	66152294	68	19697											
IL21R	50615	genome.wustl.edu	37	16	27445751	27445751	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr16:27445751A>C	ENST00000337929.3	+	3	606	c.133A>C	c.(133-135)Agc>Cgc	p.S45R	IL21R_ENST00000395754.4_Missense_Mutation_p.S45R|IL21R_ENST00000564089.1_Missense_Mutation_p.S45R|IL21R_ENST00000395755.1_Missense_Mutation_p.S45R	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	45	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCTCCACCCCAGCACGCTCAC	0.622			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16											105	77	87					16																	27445751		2197	4300	6497	27353252	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.133A>C	16.37:g.27445751A>C	ENSP00000338010:p.Ser45Arg		27353252	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	a	6.261	0.416255	0.11870	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.94793	-3.52;-3.52;-3.52	4.39	-7.06	0.01568	Fibronectin, type III (1);	2.439520	0.01540	N	0.019204	D	0.89434	0.6714	L	0.53249	1.67	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.76022	-0.3111	10	0.22109	T	0.4	-0.233	2.5714	0.04796	0.4681:0.3047:0.1102:0.1171	.	45	Q9HBE5	IL21R_HUMAN	R	45	ENSP00000338010:S45R;ENSP00000379104:S45R;ENSP00000379103:S45R	ENSP00000338010:S45R	S	+	1	0	IL21R	27353252	0.000000	0.05858	0.001000	0.08648	0.397000	0.30659	-1.576000	0.02129	-1.192000	0.02691	0.454000	0.30748	AGC		0.622	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		C	27445751	A	C	27445751	3	2	359	1	0	0	0	0	1	0	0	0	7671	188	7	5	139	5	IL21R	16	27445751	Missense_Mutation	SNP	A	TCGA-29-2432-01A-01D-1526-09	3243292	27445751	62909002	69	19698											
ATXN2L	11273	genome.wustl.edu	37	16	28847795	28847795	+	3'UTR	SNP	G	G	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr16:28847795G>C	ENST00000336783.4	+	0	3604				ATXN2L_ENST00000570200.1_Intron|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Intron|ATXN2L_ENST00000395547.2_Silent_p.L1096L|ATXN2L_ENST00000340394.8_Intron|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000564304.1_Intron	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like						regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACTGTCTCCTGACTTAGCCGA	0.627																																																0			16											35	34	34					16																	28847795		2197	4300	6497	28755296	SO:0001624	3_prime_UTR_variant	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.*209G>C	16.37:g.28847795G>C			28755296	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	CCDS10641.1																																																																																				0.627	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		C	28847795	G	C	28847795	1	2	359	0	1	0	0	0	0	0	0	0	1212	1277	45	3		3	ATXN2L	16	28847795	3'UTR	SNP	G	TCGA-29-2432-01A-01D-1526-09	1402044	28847795	61506958	70	19699											
CD2BP2	10421	genome.wustl.edu	37	16	30365935	30365935	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr16:30365935G>T	ENST00000305596.3	-	2	243	c.68C>A	c.(67-69)cCc>cAc	p.P23H	CD2BP2_ENST00000569466.1_Missense_Mutation_p.P23H|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	23					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTTCTTCTTGGGGACAATGAT	0.567																																																0			16											250	250	250					16																	30365935		2197	4300	6497	30273436	SO:0001583	missense	10421			AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 59"	604470	"CD2 antigen (cytoplasmic tail)-binding protein 2"			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.68C>A	16.37:g.30365935G>T	ENSP00000304903:p.Pro23His		30273436	B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009019	0.93346	.	.	ENSG00000169217	ENST00000305596	T	0.30448	1.53	5.34	5.34	0.76211	.	0.166753	0.53938	D	0.000050	T	0.50411	0.1614	L	0.58101	1.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.66196	0.942	T	0.46005	-0.9222	10	0.49607	T	0.09	-0.7209	15.9546	0.79876	0.0:0.0:1.0:0.0	.	23	O95400	CD2B2_HUMAN	H	23	ENSP00000304903:P23H	ENSP00000304903:P23H	P	-	2	0	CD2BP2	30273436	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.914000	0.63348	2.503000	0.84419	0.591000	0.81541	CCC		0.567	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		T	30365935	G	T	30365935	3	4	359	1	0	0	0	0	1	0	0	0	2995	1232	43	3	981	3	CD2BP2	16	30365935	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	1518140	30365935	59988818	71	19700											
ATMIN	23300	genome.wustl.edu	37	16	81077192	81077192	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr16:81077192G>T	ENST00000299575.4	+	4	1113	c.1089G>T	c.(1087-1089)aaG>aaT	p.K363N	ATMIN_ENST00000564241.1_Missense_Mutation_p.K207N|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.K207N	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	363	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCTCTCTTAAGGAGAGCCTAC	0.463																																																0			16											47	47	47					16																	81077192		2202	4300	6502	79634693	SO:0001583	missense	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1089G>T	16.37:g.81077192G>T	ENSP00000299575:p.Lys363Asn		79634693	A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359266	0.41801	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.03094	4.05	6.17	1.79	0.24919	.	0.153579	0.56097	D	0.000022	T	0.04497	0.0123	M	0.77616	2.38	0.39751	D	0.971888	B	0.31680	0.335	B	0.26614	0.071	T	0.34700	-0.9818	10	0.87932	D	0	-17.5946	0.8615	0.01194	0.338:0.1543:0.3497:0.1581	.	363	O43313	ATMIN_HUMAN	N	363;134	ENSP00000299575:K363N	ENSP00000299575:K363N	K	+	3	2	ATMIN	79634693	1.000000	0.71417	0.995000	0.50966	0.236000	0.25371	1.302000	0.33459	0.875000	0.35847	0.655000	0.94253	AAG		0.463	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		T	81077192	G	T	81077192	3	4	359	1	0	0	0	0	1	0	0	0	1110	991	35	3	1103	3	ATMIN	16	81077192	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	50711257	81077192	9277561	72	19701											
TP53	7157	genome.wustl.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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"	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	17											50	52	51					17																	7578461		2202	4300	6502	7519186	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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe		7519186	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578461	C	A	7578461	3	1	359	1	0	0	0	0	1	0	0	0	16381	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09		7578461	73616749	73	19702											
RNF213	57674	genome.wustl.edu	37	17	78237543	78237543	+	Silent	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr17:78237543C>T	ENST00000582970.1	+	2	206	c.63C>T	c.(61-63)tgC>tgT	p.C21C	RNF213_ENST00000508628.2_Silent_p.C21C|RNF213_ENST00000456466.1_Silent_p.C21C|RNF213_ENST00000319921.4_Silent_p.C21C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	21					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGCCAGTGCGGAGAGAGGC	0.637																																																0			17											58	58	58					17																	78237543		2203	4300	6503	75852138	SO:0001819	synonymous_variant	57714			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.63C>T	17.37:g.78237543C>T			75852138	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.637	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78237543	C	T	78237543	2	4	359	1	0	0	0	0	0	0	0	1	13480	776	27	1		1	RNF213	17	78237543	Silent	SNP	C	TCGA-29-2432-01A-01D-1526-09	70659082	78237543	2957667	74	19703											
TMEM161A	54929	genome.wustl.edu	37	19	19243235	19243235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr19:19243235G>C	ENST00000162044.9	-	5	433	c.369C>G	c.(367-369)taC>taG	p.Y123*	TMEM161A_ENST00000450333.2_Intron|TMEM161A_ENST00000587583.2_Nonsense_Mutation_p.Y98*|TMEM161A_ENST00000592147.1_5'Flank	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	123					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GCATGTAGTAGTAGGCCTCTG	0.567																																																0			19											165	147	153					19																	19243235		2203	4300	6503	19104235	SO:0001587	stop_gained	54929			BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.369C>G	19.37:g.19243235G>C	ENSP00000162044:p.Tyr123*		19104235	B3KUE0|G5E9M6|Q7L2Y1	Nonsense_Mutation	SNP	ENST00000162044.9	37	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951313	0.53186	.	.	ENSG00000064545	ENST00000162044	.	.	.	3.74	2.7	0.31948	.	0.061993	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5638	5.1476	0.14993	0.242:0.0:0.758:0.0	.	.	.	.	X	123	.	ENSP00000162044:Y123X	Y	-	3	2	TMEM161A	19104235	1.000000	0.71417	0.998000	0.56505	0.382000	0.30200	1.885000	0.39678	2.099000	0.63709	0.491000	0.48974	TAC		0.567	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		C	19243235	G	C	19243235	4	2	359	1	0	0	0	0	0	1	0	0	16076	1024	36	3	1102	3	TMEM161A	19	19243235	Nonsense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09		19243235	39885748	75	19704											
ZNF607	84775	genome.wustl.edu	37	19	38200708	38200708	+	Missense_Mutation	SNP	C	C	G	rs570323220		TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr19:38200708C>G	ENST00000355202.4	-	3	620	c.25G>C	c.(25-27)Ggg>Cgg	p.G9R	ZNF607_ENST00000395835.3_Missense_Mutation_p.G9R|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.G9R	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GCCACATCCCCGAATGTTATT	0.493																																																0			19											106	93	98					19																	38200708		2203	4300	6503	42892548	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.25G>C	19.37:g.38200708C>G	ENSP00000347338:p.Gly9Arg		42892548	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.524441	0.00959	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.01599	4.74;4.74	2.6	-1.75	0.08031	Krueppel-associated box (4);	.	.	.	.	T	0.00666	0.0022	N	0.02213	-0.635	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46400	-0.9194	9	0.05525	T	0.97	.	4.1374	0.10178	0.0:0.2543:0.1806:0.565	.	9;9	Q96SK3;F5H141	ZN607_HUMAN;.	R	9	ENSP00000347338:G9R;ENSP00000438015:G9R	ENSP00000347338:G9R	G	-	1	0	ZNF607	42892548	0.000000	0.05858	0.274000	0.24659	0.062000	0.15995	-0.367000	0.07553	-0.235000	0.09767	-1.423000	0.01107	GGG		0.493	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		G	38200708	C	G	38200708	3	3	359	1	0	0	0	0	1	0	0	0	18033	652	23	3	2077	3	ZNF607	19	38200708	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09	18957473	38200708	20928275	76	19705											
SPTBN4	57731	genome.wustl.edu	37	19	41007827	41007827	+	Splice_Site	SNP	G	G	C			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr19:41007827G>C	ENST00000352632.3	+	8	870		c.e8-1		SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGCTTCCAGATGTGAACAT	0.507																																																0			19											151	149	150					19																	41007827		2203	4300	6503	45699667	SO:0001630	splice_region_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.785-1G>C	19.37:g.41007827G>C			45699667	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Splice_Site	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393734	0.62066	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2763	0.73745	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN4	45699667	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	9.616000	0.98359	2.215000	0.71742	0.467000	0.42956	.		0.507	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		Intron	C	41007827	G	C	41007827	5	2	359	1	0	0	0	0	0	0	1	0	15123	956	33	3	810	3	SPTBN4	19	41007827	Splice_Site	SNP	G	TCGA-29-2432-01A-01D-1526-09	2807119	41007827	18121156	77	19706											
PROKR2	128674	genome.wustl.edu	37	20	5294584	5294584	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr20:5294584A>T	ENST00000217270.3	-	1	431	c.432T>A	c.(430-432)aaT>aaA	p.N144K	PROKR2_ENST00000546004.1_Missense_Mutation_p.N144K	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	144					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CCAGCAAGGCATTGGTGGAGA	0.602										HNSCC(71;0.22)																																						0			20											64	51	55					20																	5294584		2203	4300	6503	5242584	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.432T>A	20.37:g.5294584A>T	ENSP00000217270:p.Asn144Lys		5242584	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991622	0.74703	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.37058	1.22;1.22	5.12	-5.17	0.02849	GPCR, rhodopsin-like superfamily (1);	0.048188	0.85682	D	0.000000	T	0.56426	0.1984	M	0.84948	2.725	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.63283	-0.6672	10	0.41790	T	0.15	.	14.1416	0.65322	0.3992:0.0:0.6008:0.0	.	144	Q8NFJ6	PKR2_HUMAN	K	144	ENSP00000440790:N144K;ENSP00000217270:N144K	ENSP00000217270:N144K	N	-	3	2	PROKR2	5242584	0.996000	0.38824	0.963000	0.40424	0.985000	0.73830	0.595000	0.24029	-0.885000	0.03971	-0.304000	0.09214	AAT		0.602	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		T	5294584	A	T	5294584	3	4	359	1	0	0	0	0	1	0	0	0	12556	214	8	5	729	5	PROKR2	20	5294584	Missense_Mutation	SNP	A	TCGA-29-2432-01A-01D-1526-09		5294584	57730936	78	19707											
C20orf26	26074	genome.wustl.edu	37	20	20056208	20056208	+	Missense_Mutation	SNP	A	A	G	rs371474647		TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr20:20056208A>G	ENST00000245957.5	+	6	591	c.515A>G	c.(514-516)cAt>cGt	p.H172R	C20orf26_ENST00000377306.1_Missense_Mutation_p.H172R|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.H172R|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		172										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTTGCAGTGCATATATGTCAC	0.473																																																0			20						A	ARG/HIS,ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	150	138	142		515,515	3.5	0	20		142	0,8600		0,0,4300	no	missense,missense	C20orf26	NM_001167816.1,NM_015585.3	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	172/471,172/1238	20056208	1,13005	2203	4300	6503	20004208	SO:0001583	missense	26074																														ENST00000245957.5:c.515A>G	20.37:g.20056208A>G	ENSP00000245957:p.His172Arg		20004208	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	6.858	0.527686	0.13127	2.27E-4	0.0	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000451767;ENST00000472660	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.9	3.46	0.39613	Acyl-CoA N-acyltransferase (1);	0.581665	0.18777	N	0.131426	T	0.24812	0.0602	L	0.46157	1.445	0.09310	N	0.99999	P;B;P;B	0.44090	0.744;0.414;0.826;0.078	B;B;B;B	0.40825	0.341;0.15;0.331;0.06	T	0.07986	-1.0744	10	0.25751	T	0.34	.	8.794	0.34868	0.7659:0.0:0.0:0.2341	.	172;172;126;172	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	R	126;172;172;172;172;172;172;68	ENSP00000345553:H126R;ENSP00000245957:H172R;ENSP00000366521:H172R;ENSP00000366518:H172R;ENSP00000414537:H172R;ENSP00000420498:H68R	ENSP00000245957:H172R	H	+	2	0	C20orf26	20004208	0.027000	0.19231	0.007000	0.13788	0.007000	0.05969	1.288000	0.33296	2.264000	0.75181	0.533000	0.62120	CAT		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			G	20056208	A	G	20056208	3	3	359	1	0	0	0	0	1	0	0	0	2106	217	8	4	533	4	C20orf26	20	20056208	Missense_Mutation	SNP	A	TCGA-29-2432-01A-01D-1526-09	14761624	20056208	42969312	79	19708											
SYCP2	10388	genome.wustl.edu	37	20	58448961	58448961	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr20:58448961A>T	ENST00000357552.3	-	35	3730	c.3505T>A	c.(3505-3507)Ttc>Atc	p.F1169I	SYCP2_ENST00000371001.2_Missense_Mutation_p.F1169I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1169					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GCACACAGGAAGTTTTTCTCA	0.338																																																0			20											169	145	153					20																	58448961		2203	4300	6503	57882356	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3505T>A	20.37:g.58448961A>T	ENSP00000350162:p.Phe1169Ile		57882356	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.247158	0.22796	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.13196	2.61;2.61	4.92	-2.1	0.07210	.	2.285240	0.01657	N	0.024870	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24835	-1.0149	10	0.23302	T	0.38	0.0503	3.551	0.07845	0.3672:0.4242:0.079:0.1296	.	1169	Q9BX26	SYCP2_HUMAN	I	1169	ENSP00000360040:F1169I;ENSP00000350162:F1169I	ENSP00000350162:F1169I	F	-	1	0	SYCP2	57882356	0.000000	0.05858	0.000000	0.03702	0.365000	0.29674	-0.036000	0.12185	-0.480000	0.06803	-0.371000	0.07208	TTC		0.338	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		T	58448961	A	T	58448961	3	4	359	1	0	0	0	0	1	0	0	0	15432	72	3	5	1131	5	SYCP2	20	58448961	Missense_Mutation	SNP	A	TCGA-29-2432-01A-01D-1526-09	38392753	58448961	4576559	80	19709											
OGFR	11054	genome.wustl.edu	37	20	61444447	61444447	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr20:61444447G>A	ENST00000290291.6	+	7	1505	c.1480G>A	c.(1480-1482)Gga>Aga	p.G494R	OGFR_ENST00000370461.1_Missense_Mutation_p.G442R	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	494					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CCCCAAGGCTGGACACAGTGA	0.682																																																0			20											21	24	23					20																	61444447		2162	4260	6422	60914892	SO:0001583	missense	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1480G>A	20.37:g.61444447G>A	ENSP00000290291:p.Gly494Arg		60914892	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327027	0.41197	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.32753	1.9;1.44	4.17	-5.29	0.02747	.	4.527330	0.00789	N	0.001337	T	0.18551	0.0445	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17852	0.012;0.024;0.024	B;B;B	0.14023	0.006;0.01;0.01	T	0.13098	-1.0522	10	0.20519	T	0.43	2.3131	7.1398	0.25550	0.3483:0.2063:0.4455:0.0	.	494;477;494	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	R	494;494;349;442	ENSP00000290291:G494R;ENSP00000359491:G442R	ENSP00000290291:G494R	G	+	1	0	OGFR	60914892	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.190000	0.09615	-0.984000	0.03507	-1.080000	0.02220	GGA		0.682	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			A	61444447	G	A	61444447	3	1	359	1	0	0	0	0	1	0	0	0	10843	1349	47	2	1506	2	OGFR	20	61444447	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09	2995486	61444447	1581073	81	19710											
KRTAP6-3	337968	genome.wustl.edu	37	21	31965075	31965075	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr21:31965075C>G	ENST00000391624.1	+	1	317	c.290C>G	c.(289-291)tCc>tGc	p.S97C	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	97						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						GGCTATGGCTCCAGCTTTGGC	0.537																																																0			21											38	45	43					21																	31965075		2201	4300	6501	30886946	SO:0001583	missense	337968			AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"Keratin associated proteins"	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.290C>G	21.37:g.31965075C>G	ENSP00000375482:p.Ser97Cys		30886946	A4IF26	Missense_Mutation	SNP	ENST00000391624.1	37		.	.	.	.	.	.	.	.	.	.	C	4.375	0.069068	0.08436	.	.	ENSG00000212938	ENST00000391624	T	0.37411	1.2	3.6	2.7	0.31948	.	.	.	.	.	T	0.29190	0.0726	L	0.38175	1.15	0.27360	N	0.956005	B	0.21225	0.053	B	0.21917	0.037	T	0.28138	-1.0053	9	0.87932	D	0	.	9.1772	0.37118	0.0:0.7784:0.2216:0.0	.	97	Q3LI67	KRA63_HUMAN	C	97	ENSP00000375482:S97C	ENSP00000375482:S97C	S	+	2	0	KRTAP6-3	30886946	1.000000	0.71417	0.999000	0.59377	0.077000	0.17291	1.063000	0.30567	1.063000	0.40649	0.557000	0.71058	TCC		0.537	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		G	31965075	C	G	31965075	3	3	359	1	0	0	0	0	1	0	0	0	8571	855	30	3	313	3	KRTAP6-3	21	31965075	Missense_Mutation	SNP	C	TCGA-29-2432-01A-01D-1526-09		31965075	16164820	82	19711											
SLC2A11	66035	genome.wustl.edu	37	22	24204383	24204383	+	Silent	SNP	G	G	A	rs185337121		TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chr22:24204383G>A	ENST00000345044.6	+	2	382	c.114G>A	c.(112-114)ccG>ccA	p.P38P	SLC2A11_ENST00000398356.2_Silent_p.P45P|AP000350.10_ENST00000433835.3_Silent_p.P3P|SLC2A11_ENST00000403208.3_Silent_p.P38P|SLC2A11_ENST00000405847.1_Silent_p.P38P|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000316185.8_Silent_p.P41P			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	38					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TCAATGCCCCGACCTTGGTAT	0.557													G|||	1	0.000199681	0	0	5008	,	,		20825	0.001		0	False		,,,				2504	0															0			22											188	167	174					22																	24204383		2203	4300	6503	22534383	SO:0001819	synonymous_variant	66035			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.114G>A	22.37:g.24204383G>A			22534383	E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	CCDS46673.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.562	-0.844865	0.02671	.	.	ENSG00000251357	ENST00000421180	.	.	.	3.4	-5.44	0.02624	.	.	.	.	.	T	0.48447	0.1500	.	.	.	0.50813	D	0.999894	.	.	.	.	.	.	T	0.49273	-0.8957	4	.	.	.	.	7.621	0.28185	0.6677:0.1366:0.1957:0.0	.	.	.	.	Q	14	.	.	R	+	2	0	AP000350.10	22534383	0.016000	0.18221	0.201000	0.23476	0.142000	0.21351	-1.928000	0.01560	-0.969000	0.03573	-0.960000	0.02634	CGA		0.557	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		A	24204383	G	A	24204383	2	1	359	1	0	0	0	0	0	0	0	1	14543	1045	37	1		1	SLC2A11	22	24204383	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09		24204383	27100183	83	19712											
RAB9A	9367	genome.wustl.edu	37	X	13727391	13727391	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chrX:13727391G>A	ENST00000464506.1	+	3	805	c.526G>A	c.(526-528)Gag>Aag	p.E176K	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	176					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TCTTGCTACCGAGGATAGGTC	0.453																																																0			X											88	77	81					X																	13727391		2203	4300	6503	13637312	SO:0001583	missense	9367			U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"RAB, member RAS oncogene"	9792	protein-coding gene	gene with protein product		300284	"RAB9, member RAS oncogene family"	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.526G>A	X.37:g.13727391G>A	ENSP00000420127:p.Glu176Lys		13637312	A8K390|Q6ICN1	Missense_Mutation	SNP	ENST00000464506.1	37	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063681	0.76187	.	.	ENSG00000123595	ENST00000464506	T	0.79247	-1.25	5.36	5.36	0.76844	.	0.105000	0.64402	D	0.000005	T	0.65270	0.2675	N	0.19112	0.55	0.80722	D	1	P	0.34892	0.474	B	0.32211	0.142	T	0.63734	-0.6570	9	.	.	.	-7.8124	18.1669	0.89731	0.0:0.0:1.0:0.0	.	176	P51151	RAB9A_HUMAN	K	176	ENSP00000420127:E176K	.	E	+	1	0	RAB9A	13637312	1.000000	0.71417	0.915000	0.36163	0.987000	0.75469	7.810000	0.86072	2.227000	0.72691	0.594000	0.82650	GAG		0.453	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		A	13727391	G	A	13727391	3	1	359	1	0	0	0	0	1	0	0	0	12961	1059	37	1	528	1	RAB9A	23	13727391	Missense_Mutation	SNP	G	TCGA-29-2432-01A-01D-1526-09		13727391	141543169	84	19713											
RPS6KA6	27330	genome.wustl.edu	37	X	83351223	83351223	+	Silent	SNP	G	G	A			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chrX:83351223G>A	ENST00000262752.2	-	20	1957	c.1950C>T	c.(1948-1950)gaC>gaT	p.D650D	RPS6KA6_ENST00000543399.1_Silent_p.D650D|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	650	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTGAAATATTGTCCCAGTTTC	0.373																																																0			X											79	65	70					X																	83351223		2203	4300	6503	83237879	SO:0001819	synonymous_variant	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1950C>T	X.37:g.83351223G>A			83237879	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	CCDS14451.1																																																																																				0.373	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		A	83351223	G	A	83351223	2	1	359	1	0	0	0	0	0	0	0	1	13658	1368	48	2		2	RPS6KA6	23	83351223	Silent	SNP	G	TCGA-29-2432-01A-01D-1526-09	69623832	83351223	71919337	85	19714											
COL4A6	1288	genome.wustl.edu	37	X	107403874	107403874	+	Silent	SNP	C	C	T			TCGA-29-2432-01A-01D-1526-09	TCGA-29-2432-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe930e94-15b5-426d-b383-0c76fdee9532	b5233d4e-e526-4f15-8470-a1d8271359cf	g.chrX:107403874C>T	ENST00000372216.4	-	43	4447	c.4347G>A	c.(4345-4347)ggG>ggA	p.G1449G	COL4A6_ENST00000545689.1_Silent_p.G1424G|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000334504.7_Silent_p.G1448G|COL4A6_ENST00000394872.2_Silent_p.G1449G|COL4A6_ENST00000538570.1_Silent_p.G1391G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1449	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCCTTGCTGCCCTGGAGCTC	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											0			X											64	58	60					X																	107403874		2203	4300	6503	107290530	SO:0001819	synonymous_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4347G>A	X.37:g.107403874C>T			107290530	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																				0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			T	107403874	C	T	107403874	2	4	359	1	0	0	0	0	0	0	0	1	3695	726	26	2		2	COL4A6	23	107403874	Silent	SNP	C	TCGA-29-2432-01A-01D-1526-09	24052651	107403874	47866686	86	19715											
TARDBP	23435	genome.wustl.edu	37	1	11074009	11074009	+	Silent	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:11074009C>G	ENST00000240185.3	+	2	339	c.225C>G	c.(223-225)gtC>gtG	p.V75V	TARDBP_ENST00000315091.3_Silent_p.V75V|TARDBP_ENST00000439080.2_Nonsense_Mutation_p.S14*	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	75					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TGTATGTTGTCAACTATCCAA	0.468																																																0			1											107	112	110					1																	11074009		2203	4300	6503	10996596	SO:0001819	synonymous_variant	23435			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.225C>G	1.37:g.11074009C>G			10996596	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Silent	SNP	ENST00000240185.3	37	CCDS122.1	.	.	.	.	.	.	.	.	.	.	C	38	6.701380	0.97772	.	.	ENSG00000120948	ENST00000439080	.	.	.	5.32	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-19.6202	17.9925	0.89172	0.0:0.4461:0.5539:0.0	.	.	.	.	X	14	.	ENSP00000404666:S14X	S	+	2	0	TARDBP	10996596	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.865000	0.27940	0.203000	0.20529	-0.172000	0.13284	TCA		0.468	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		G	11074009	C	G	11074009	2	3	360	1	0	0	0	0	0	0	0	1	15557	813	29	3		3	TARDBP	1	11074009	Silent	SNP	C	TCGA-29-2434-01A-01D-1526-09		11074009	238176612	1	19716											
DDI2	84301	genome.wustl.edu	37	1	15957017	15957017	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:15957017A>T	ENST00000480945.1	+	3	637	c.466A>T	c.(466-468)Aat>Tat	p.N156Y		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	156							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAAGGAACGCAATCCACCCCT	0.512																																																0			1											94	88	90					1																	15957017		2203	4300	6503	15829604	SO:0001583	missense	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.466A>T	1.37:g.15957017A>T	ENSP00000417748:p.Asn156Tyr		15829604	A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640779	0.87859	.	.	ENSG00000197312	ENST00000480945	T	0.29397	1.57	5.67	5.67	0.87782	.	0.000000	0.85682	U	0.000000	T	0.58906	0.2155	M	0.83384	2.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	T	0.63129	-0.6706	10	0.51188	T	0.08	-44.3756	15.5904	0.76523	1.0:0.0:0.0:0.0	.	156	Q5TDH0	DDI2_HUMAN	Y	156	ENSP00000417748:N156Y	ENSP00000449475:N41Y	N	+	1	0	DDI2	15829604	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.764000	0.91719	2.168000	0.68352	0.528000	0.53228	AAT		0.512	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		T	15957017	A	T	15957017	3	4	360	1	0	0	0	0	1	0	0	0	4329	130	5	5	476	5	DDI2	1	15957017	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	4883008	15957017	233293604	2	19717											
PODN	127435	genome.wustl.edu	37	1	53544495	53544495	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:53544495C>T	ENST00000312553.5	+	8	1464	c.1457C>T	c.(1456-1458)tCg>tTg	p.S486L	PODN_ENST00000371500.3_Missense_Mutation_p.S467L|PODN_ENST00000395871.2_Missense_Mutation_p.S344L|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	438					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGACCTGTCGGGCAACCGG	0.657																																																0			1											64	52	56					1																	53544495		2203	4298	6501	53317083	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1457C>T	1.37:g.53544495C>T	ENSP00000308315:p.Ser486Leu		53317083	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035432	0.93630	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.62364	0.03;0.03;0.03	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.82517	2.595	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.981;0.997;0.951	D	0.84509	0.0621	10	0.87932	D	0	.	18.0614	0.89378	0.0:1.0:0.0:0.0	.	344;467;486	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	L	467;344;486	ENSP00000360555:S467L;ENSP00000379212:S344L;ENSP00000308315:S486L	ENSP00000308315:S486L	S	+	2	0	PODN	53317083	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	5.756000	0.68757	2.492000	0.84095	0.555000	0.69702	TCG		0.657	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		T	53544495	C	T	53544495	3	4	360	1	0	0	0	0	1	0	0	0	12178	893	31	1	1487	1	PODN	1	53544495	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	37587478	53544495	195706126	3	19718											
GBP4	115361	genome.wustl.edu	37	1	89654347	89654347	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:89654347A>G	ENST00000355754.6	-	8	1425	c.1328T>C	c.(1327-1329)gTt>gCt	p.V443A		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	443						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCCTCCAGGAACAGAGAAAAT	0.453																																																0			1											239	259	252					1																	89654347		2203	4300	6503	89426935	SO:0001583	missense	115361			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1328T>C	1.37:g.89654347A>G	ENSP00000359490:p.Val443Ala		89426935	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	A	6.786	0.514087	0.12944	.	.	ENSG00000162654	ENST00000355754	T	0.02032	4.49	4.73	2.34	0.29019	Guanylate-binding protein, C-terminal (3);	0.315912	0.29987	N	0.010700	T	0.00967	0.0032	M	0.75085	2.285	0.09310	N	1	B	0.23806	0.091	B	0.33690	0.168	T	0.50415	-0.8831	10	0.08837	T	0.75	.	3.8562	0.08976	0.5807:0.0:0.0906:0.3287	.	443	Q96PP9	GBP4_HUMAN	A	443	ENSP00000359490:V443A	ENSP00000359490:V443A	V	-	2	0	GBP4	89426935	0.008000	0.16893	0.208000	0.23602	0.116000	0.19942	0.911000	0.28584	0.368000	0.24481	-0.333000	0.08304	GTT		0.453	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		G	89654347	A	G	89654347	3	3	360	1	0	0	0	0	1	0	0	0	6276	43	2	4	610	4	GBP4	1	89654347	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	36109852	89654347	159596274	4	19719											
C1orf162	128346	genome.wustl.edu	37	1	112019976	112019976	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:112019976C>T	ENST00000343534.5	+	4	378	c.128C>T	c.(127-129)gCc>gTc	p.A43V	C1orf162_ENST00000369718.3_Missense_Mutation_p.A43V|C1orf162_ENST00000464591.1_Intron	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	43						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTAATCCTTGCCTTTTGTGCT	0.433																																																0			1											133	115	121					1																	112019976		2203	4300	6503	111821499	SO:0001583	missense	128346			BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.128C>T	1.37:g.112019976C>T	ENSP00000344218:p.Ala43Val		111821499	Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	CCDS837.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772180	0.49680	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	D;D	0.96334	-3.98;-3.98	4.77	4.77	0.60923	.	0.000000	0.45867	D	0.000338	D	0.95617	0.8575	L	0.32530	0.975	0.35545	D	0.803398	D	0.76494	0.999	D	0.70487	0.969	D	0.96579	0.9429	10	0.87932	D	0	-13.123	13.1478	0.59472	0.0:1.0:0.0:0.0	.	43	Q8NEQ5	CA162_HUMAN	V	43	ENSP00000344218:A43V;ENSP00000358732:A43V	ENSP00000344218:A43V	A	+	2	0	C1orf162	111821499	0.999000	0.42202	0.982000	0.44146	0.023000	0.10783	1.994000	0.40757	2.491000	0.84063	0.557000	0.71058	GCC		0.433	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		T	112019976	C	T	112019976	3	4	360	1	0	0	0	0	1	0	0	0	2010	739	26	2	138	2	C1orf162	1	112019976	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	22365629	112019976	137230645	5	19720											
TRIM46	80128	genome.wustl.edu	37	1	155148389	155148389	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:155148389G>T	ENST00000334634.4	+	3	351	c.351G>T	c.(349-351)aaG>aaT	p.K117N	KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000392451.2_Missense_Mutation_p.K117N|TRIM46_ENST00000543729.1_Missense_Mutation_p.K124N|TRIM46_ENST00000368385.4_Missense_Mutation_p.K117N|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.K94N|TRIM46_ENST00000545012.1_5'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.K117N|KRTCAP2_ENST00000490672.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	117						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGGGAGGAAGCGAGGTGCTT	0.577																																																0			1											134	138	136					1																	155148389		2203	4300	6503	153415013	SO:0001583	missense	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.351G>T	1.37:g.155148389G>T	ENSP00000334657:p.Lys117Asn		153415013	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	g	11.27	1.588088	0.28268	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.59364	0.82;0.58;0.76;0.5;0.27;0.32	4.73	-2.14	0.07123	Zinc finger, RING-type (1);	0.245522	0.39210	N	0.001425	T	0.38268	0.1034	L	0.27053	0.805	0.80722	D	1	P;D;P;D;P	0.63046	0.764;0.992;0.895;0.986;0.764	B;P;B;P;B	0.59357	0.174;0.811;0.264;0.856;0.224	T	0.33979	-0.9847	10	0.26408	T	0.33	.	10.2275	0.43233	0.517:0.0:0.483:0.0	.	104;117;94;117;117	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	N	124;104;117;117;117;94;117	ENSP00000442719:K124N;ENSP00000357369:K117N;ENSP00000376245:K117N;ENSP00000357367:K117N;ENSP00000357366:K94N;ENSP00000334657:K117N	ENSP00000334657:K117N	K	+	3	2	TRIM46	153415013	0.896000	0.30565	0.993000	0.49108	0.517000	0.34286	-0.039000	0.12124	-0.236000	0.09753	-0.766000	0.03442	AAG		0.577	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		T	155148389	G	T	155148389	3	4	360	1	0	0	0	0	1	0	0	0	16521	962	34	3	361	3	TRIM46	1	155148389	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	43128413	155148389	94102232	6	19721											
OR10T2	128360	genome.wustl.edu	37	1	158368525	158368525	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:158368525A>C	ENST00000334438.1	-	1	731	c.732T>G	c.(730-732)caT>caG	p.H244Q		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCACAGTGAGATGTGAGGCAC	0.493																																																0			1											112	102	106					1																	158368525		2203	4300	6503	156635149	SO:0001583	missense	128360			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.732T>G	1.37:g.158368525A>C	ENSP00000334115:p.His244Gln		156635149	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601245	0.28534	.	.	ENSG00000186306	ENST00000334438	T	0.00307	8.17	4.57	1.44	0.22558	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000516	T	0.00384	0.0012	H	0.97158	3.95	0.25381	N	0.988612	P	0.50943	0.94	P	0.61201	0.885	T	0.34079	-0.9843	10	0.87932	D	0	.	7.3394	0.26627	0.3768:0.0:0.6232:0.0	.	244	Q8NGX3	O10T2_HUMAN	Q	244	ENSP00000334115:H244Q	ENSP00000334115:H244Q	H	-	3	2	OR10T2	156635149	1.000000	0.71417	0.997000	0.53966	0.539000	0.34962	0.818000	0.27295	0.553000	0.29044	-0.763000	0.03452	CAT		0.493	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		C	158368525	A	C	158368525	3	2	360	1	0	0	0	0	1	0	0	0	10919	330	12	5	214	5	OR10T2	1	158368525	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	3220136	158368525	90882096	7	19722											
ATP1A4	480	genome.wustl.edu	37	1	160136403	160136403	+	Missense_Mutation	SNP	C	C	T	rs150693480		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:160136403C>T	ENST00000368081.4	+	8	1604	c.1133C>T	c.(1132-1134)aCg>aTg	p.T378M		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	378					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGGCTCCACGTCCACCATC	0.597																																																0			1						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	133	108	117		1133	4.3	1	1	dbSNP_134	117	0,8600		0,0,4300	no	missense	ATP1A4	NM_144699.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	378/1030	160136403	1,13005	2203	4300	6503	158403027	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1133C>T	1.37:g.160136403C>T	ENSP00000357060:p.Thr378Met		158403027	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211627	0.79240	2.27E-4	0.0	ENSG00000132681	ENST00000368081	D	0.93426	-3.22	4.35	4.35	0.52113	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97031	0.9750	10	0.87932	D	0	.	14.7749	0.69724	0.0:1.0:0.0:0.0	.	378	Q13733	AT1A4_HUMAN	M	378	ENSP00000357060:T378M	ENSP00000357060:T378M	T	+	2	0	ATP1A4	158403027	1.000000	0.71417	0.986000	0.45419	0.724000	0.41520	7.580000	0.82523	2.427000	0.82271	0.650000	0.86243	ACG		0.597	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		T	160136403	C	T	160136403	3	4	360	1	0	0	0	0	1	0	0	0	1131	536	19	1	1163	1	ATP1A4	1	160136403	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	1767878	160136403	89114218	8	19723											
CR2	1380	genome.wustl.edu	37	1	207646195	207646195	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:207646195C>A	ENST00000367058.3	+	10	1838	c.1649C>A	c.(1648-1650)aCc>aAc	p.T550N	CR2_ENST00000367059.3_Missense_Mutation_p.T550N|CR2_ENST00000367057.3_Missense_Mutation_p.T550N|CR2_ENST00000458541.2_Missense_Mutation_p.N524K	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	550	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCATATGGAACCACGGTCACT	0.473																																																0			1											80	78	79					1																	207646195		2203	4300	6503	205712818	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1649C>A	1.37:g.207646195C>A	ENSP00000356025:p.Thr550Asn		205712818	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.33|12.33	1.904430|1.904430	0.33628|0.33628	.|.	.|.	ENSG00000117322|ENSG00000117322	ENST00000458541|ENST00000367058;ENST00000367057;ENST00000367059	T|T;T;T	0.30981|0.66099	1.51|-0.19;-0.19;-0.19	5.75|5.75	3.89|3.89	0.44902|0.44902	.|Complement control module (2);Sushi/SCR/CCP (3);	.|.	.|.	.|.	.|.	T|T	0.65428|0.65428	0.2690|0.2690	L|L	0.27944|0.27944	0.81|0.81	0.28098|0.28098	N|N	0.931533|0.931533	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.994;0.997;0.99	T|T	0.56092|0.56092	-0.8036|-0.8036	7|9	0.14252|0.62326	T|D	0.57|0.03	.|.	7.8674|7.8674	0.29545|0.29545	0.0:0.8192:0.0:0.1808|0.0:0.8192:0.0:0.1808	.|.	.|550;550;550;550	.|C9JHD2;Q5SR47;P20023;P20023-3	.|.;.;CR2_HUMAN;.	K|N	524|550	ENSP00000404222:N524K|ENSP00000356025:T550N;ENSP00000356024:T550N;ENSP00000356026:T550N	ENSP00000404222:N524K|ENSP00000356024:T550N	N|T	+|+	3|2	2|0	CR2|CR2	205712818|205712818	0.961000|0.961000	0.32948|0.32948	0.615000|0.615000	0.29064|0.29064	0.257000|0.257000	0.26127|0.26127	2.409000|2.409000	0.44583|0.44583	1.445000|1.445000	0.47624|0.47624	-0.136000|-0.136000	0.14681|0.14681	AAC|ACC		0.473	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		A	207646195	C	A	207646195	3	1	360	1	0	0	0	0	1	0	0	0	3842	507	18	3	1687	3	CR2	1	207646195	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	47509792	207646195	41604426	9	19724											
C1orf101	257044	genome.wustl.edu	37	1	244716019	244716019	+	Missense_Mutation	SNP	G	G	A	rs573139470	byFrequency	TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr1:244716019G>A	ENST00000366534.4	+	9	986	c.932G>A	c.(931-933)cGt>cAt	p.R311H	C1orf101_ENST00000366531.3_Missense_Mutation_p.R160H|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.R311H	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	311						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAGAGTTTTCGTGGATTTATA	0.363													g|||	4	0.000798722	0	0	5008	,	,		14209	0.002		0	False		,,,				2504	0.002															0			1											120	122	121					1																	244716019		2203	4300	6503	242782642	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.932G>A	1.37:g.244716019G>A	ENSP00000355492:p.Arg311His		242782642	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	g	7.429	0.638284	0.14386	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T	0.30714	1.53;1.53;1.52	5.71	-11.4	0.00090	.	4.479770	0.00166	N	0.000010	T	0.09291	0.0229	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.17623	-1.0363	10	0.16420	T	0.52	.	2.7512	0.05281	0.4969:0.2298:0.118:0.1552	.	231;311;311	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	H	311;311;311;231;160	ENSP00000355492:R311H;ENSP00000355491:R311H;ENSP00000395796:R231H	ENSP00000355489:R160H	R	+	2	0	C1orf101	242782642	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.579000	0.00907	-3.038000	0.00264	-2.249000	0.00283	CGT		0.363	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		A	244716019	G	A	244716019	3	1	360	1	0	0	0	0	1	0	0	0	1976	1145	40	1	966	1	C1orf101	1	244716019	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	37069824	244716019	4534602	10	19725											
ANAPC1	64682	genome.wustl.edu	37	2	112566576	112566576	+	Silent	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr2:112566576T>C	ENST00000341068.3	-	29	4552	c.3780A>G	c.(3778-3780)gtA>gtG	p.V1260V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCCCTTGATATACAAGGCCAA	0.478																																																0			2											1	1	1					2																	112566576		748	1704	2452	112283047	SO:0001819	synonymous_variant	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.3780A>G	2.37:g.112566576T>C			112283047	Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	6.655	0.489370	0.12641	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.68	-9.36	0.00629	.	.	.	.	.	T	0.30634	0.0771	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39078	-0.9631	4	.	.	.	-18.6621	0.077	0.00028	0.2896:0.226:0.1764:0.308	.	.	.	.	V	795	.	.	I	-	1	0	ANAPC1	112283047	0.000000	0.05858	0.362000	0.25862	0.903000	0.53119	-4.063000	0.00302	-2.363000	0.00608	-2.877000	0.00098	ATA		0.478	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		C	112566576	T	C	112566576	2	2	360	1	0	0	0	0	0	0	0	1	598	1393	49	4		4	ANAPC1	2	112566576	Silent	SNP	T	TCGA-29-2434-01A-01D-1526-09		112566576	130632797	11	19726											
STEAP3	55240	genome.wustl.edu	37	2	120005445	120005445	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr2:120005445C>G	ENST00000354888.5	+	4	1187	c.683C>G	c.(682-684)gCc>gGc	p.A228G	STEAP3_ENST00000425223.2_Missense_Mutation_p.A228G|STEAP3_ENST00000393110.2_Missense_Mutation_p.A238G|STEAP3_ENST00000393106.2_Missense_Mutation_p.A228G|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.A228G|STEAP3_ENST00000450943.2_Missense_Mutation_p.A228G|STEAP3_ENST00000393107.2_Missense_Mutation_p.A228G|STEAP3_ENST00000409811.1_Missense_Mutation_p.A228G	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	228					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGCTTCTATGCCTACAACTTC	0.637																																																0			2											113	104	107					2																	120005445		2203	4300	6503	119721915	SO:0001583	missense	55240			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.683C>G	2.37:g.120005445C>G	ENSP00000346961:p.Ala228Gly		119721915	A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885578	0.33255	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.08984	3.22;3.22;3.03;3.22;3.22;3.03;3.22;3.22	4.72	2.86	0.33363	.	0.653279	0.15309	N	0.269173	T	0.06735	0.0172	L	0.29908	0.895	0.09310	N	1	P;B;B	0.36789	0.57;0.409;0.09	B;B;B	0.38264	0.269;0.197;0.036	T	0.34601	-0.9822	9	.	.	.	-13.7275	7.4793	0.27395	0.0:0.7252:0.0:0.2748	.	228;238;228	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	G	228;228;228;238;228;228;228;228	ENSP00000376820:A228G;ENSP00000346961:A228G;ENSP00000396873:A228G;ENSP00000376822:A238G;ENSP00000376818:A228G;ENSP00000386510:A228G;ENSP00000376819:A228G;ENSP00000396214:A228G	.	A	+	2	0	STEAP3	119721915	0.573000	0.26676	0.477000	0.27303	0.721000	0.41392	0.735000	0.26115	0.551000	0.29008	0.563000	0.77884	GCC		0.637	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		G	120005445	C	G	120005445	3	3	360	1	0	0	0	0	1	0	0	0	15281	739	26	3	723	3	STEAP3	2	120005445	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	7438869	120005445	123193928	12	19727											
YSK4	80122	genome.wustl.edu	37	2	135738852	135738852	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr2:135738852G>T	ENST00000375845.3	-	9	3489	c.3459C>A	c.(3457-3459)aaC>aaA	p.N1153K	MAP3K19_ENST00000315513.3_Missense_Mutation_p.N14K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.N335K|MAP3K19_ENST00000392917.3_Missense_Mutation_p.N285K|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.N287K|MAP3K19_ENST00000358371.4_Missense_Mutation_p.N1040K	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N505K(1)|p.N1153K(1)									GCCCAAAACGGTTTATAATAC	0.418																																																2	Substitution - Missense(2)	endometrium(2)	2											121	119	119					2																	135738852		2203	4300	6503	135455322	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3459C>A	2.37:g.135738852G>T	ENSP00000365005:p.Asn1153Lys		135455322	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	5.425	0.263546	0.10294	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.75	2.62	0.31277	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.126714	0.35739	N	0.003019	T	0.24236	0.0587	N	0.01874	-0.695	0.25502	N	0.987544	B;B;B;B;B	0.30439	0.09;0.237;0.274;0.274;0.279	B;B;B;B;B	0.28709	0.02;0.093;0.088;0.088;0.076	T	0.38134	-0.9675	10	0.02654	T	1	.	4.3464	0.11134	0.3953:0.0:0.455:0.1496	.	285;1040;287;335;1153	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	K	1153;1040;335;287;285;543;14	ENSP00000365005:N1153K;ENSP00000351140:N1040K;ENSP00000365004:N335K;ENSP00000376650:N287K;ENSP00000376649:N285K;ENSP00000392827:N543K;ENSP00000321160:N14K	ENSP00000321160:N14K	N	-	3	2	YSK4	135455322	0.993000	0.37304	0.999000	0.59377	0.753000	0.42808	1.007000	0.29860	0.306000	0.22856	-0.253000	0.11424	AAC		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		T	135738852	G	T	135738852	3	4	360	1	0	0	0	0	1	0	0	0	17495	1252	44	3	535	3	YSK4	2	135738852	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	15733407	135738852	107460521	13	19728											
SCN1A	6323	genome.wustl.edu	37	2	166848638	166848638	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr2:166848638C>T	ENST00000303395.4	-	26	5146	c.5147G>A	c.(5146-5148)tGc>tAc	p.C1716Y	SCN1A_ENST00000375405.3_Missense_Mutation_p.C1705Y|SCN1A_ENST00000423058.2_Missense_Mutation_p.C1716Y|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.C1688Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1716			C -> R (in EIEE6; dbSNP:rs121917926). {ECO:0000269|PubMed:17561957}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGGAATAGGCAGATCATGCT	0.463																																																0			2											224	218	220					2																	166848638		2203	4300	6503	166556884	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5147G>A	2.37:g.166848638C>T	ENSP00000303540:p.Cys1716Tyr		166556884	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400935	0.83120	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	D	0.99001	0.9659	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99282	1.0896	10	0.87932	D	0	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	1705	P35498-2	.	Y	1716;1716;1705;1688	ENSP00000407030:C1716Y;ENSP00000303540:C1716Y;ENSP00000364554:C1705Y;ENSP00000386312:C1688Y	ENSP00000303540:C1716Y	C	-	2	0	SCN1A	166556884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.603000	0.82811	2.732000	0.93576	0.650000	0.86243	TGC		0.463	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166848638	C	T	166848638	3	4	360	1	0	0	0	0	1	0	0	0	13917	710	25	2	886	2	SCN1A	2	166848638	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	31109786	166848638	76350735	14	19729											
FAM171B	165215	genome.wustl.edu	37	2	187626817	187626817	+	Missense_Mutation	SNP	C	C	T	rs369639086		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr2:187626817C>T	ENST00000304698.5	+	8	1951	c.1748C>T	c.(1747-1749)aCg>aTg	p.T583M		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	583						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGAACTTTACGCAGACCTTG	0.468													C|||	1	0.000199681	0	0	5008	,	,		21761	0		0.001	False		,,,				2504	0															0			2						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	90	84	86		1748	6	1	2		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM171B	NM_177454.3	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	583/827	187626817	2,13004	2203	4300	6503	187335062	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1748C>T	2.37:g.187626817C>T	ENSP00000304108:p.Thr583Met		187335062	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439760	0.43326	2.27E-4	1.16E-4	ENSG00000144369	ENST00000304698	T	0.31247	1.5	6.03	6.03	0.97812	.	0.054081	0.64402	D	0.000001	T	0.20047	0.0482	L	0.29908	0.895	0.49915	D	0.999831	P;P	0.48350	0.909;0.909	B;B	0.37047	0.24;0.24	T	0.01639	-1.1306	10	0.49607	T	0.09	-20.3761	9.7448	0.40440	0.0:0.7796:0.1427:0.0777	.	583;584	Q6P995;A8K122	F171B_HUMAN;.	M	583	ENSP00000304108:T583M	ENSP00000304108:T583M	T	+	2	0	FAM171B	187335062	0.998000	0.40836	0.995000	0.50966	0.993000	0.82548	3.701000	0.54793	2.854000	0.98071	0.655000	0.94253	ACG		0.468	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		T	187626817	C	T	187626817	3	4	360	1	0	0	0	0	1	0	0	0	5491	536	19	1	1778	1	FAM171B	2	187626817	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	20778179	187626817	55572556	15	19730											
HSPD1	3329	genome.wustl.edu	37	2	198363399	198363399	+	Splice_Site	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr2:198363399C>G	ENST00000388968.3	-	2	441	c.174G>C	c.(172-174)aaG>aaC	p.K58N	HSPD1_ENST00000544407.1_Splice_Site_p.K58N|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409468.1_5'Flank|HSPD1_ENST00000345042.2_Splice_Site_p.K58N|HSPE1_ENST00000409729.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	58					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATACTGGTACCTTTGGCCCCA	0.378																																																0			2											49	53	52					2																	198363399		2203	4300	6503	198071644	SO:0001630	splice_region_variant	3329			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.174+1G>C	2.37:g.198363399C>G			198071644	B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080654	0.94050	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605;ENST00000418022	T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-0.57	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.96003	0.8995	10	0.87932	D	0	-10.1837	18.2266	0.89918	0.0:1.0:0.0:0.0	.	58;58;58;58	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	N	58;58;58;58;58;100;58;58;58	ENSP00000373620:K58N;ENSP00000340019:K58N;ENSP00000393670:K58N;ENSP00000412717:K58N;ENSP00000441296:K58N;ENSP00000414446:K100N;ENSP00000396460:K58N;ENSP00000402478:K58N;ENSP00000412227:K58N	ENSP00000340019:K58N	K	-	3	2	HSPD1	198071644	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.776000	0.85560	2.384000	0.81235	0.650000	0.86243	AAG		0.378	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156	Missense_Mutation	G	198363399	C	G	198363399	5	3	360	1	0	0	0	0	0	0	1	0	7428	695	24	3	1591	3	HSPD1	2	198363399	Splice_Site	SNP	C	TCGA-29-2434-01A-01D-1526-09	10736582	198363399	44835974	16	19731											
C2orf47	79568	genome.wustl.edu	37	2	200820527	200820527	+	Silent	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr2:200820527G>A	ENST00000392290.1	+	1	202	c.6G>A	c.(4-6)gcG>gcA	p.A2A	C2orf47_ENST00000295079.2_Silent_p.A2A|TYW5_ENST00000354611.4_5'Flank|TYW5_ENST00000452512.2_5'Flank|C2orf69_ENST00000491721.1_3'UTR			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	2						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TAAAAATGGCGCTGGCCGCTC	0.637																																																0			2											31	37	35					2																	200820527		2194	4298	6492	200528772	SO:0001819	synonymous_variant	79568			BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.6G>A	2.37:g.200820527G>A			200528772	Q658V9|Q9H671	Silent	SNP	ENST00000392290.1	37	CCDS2329.1																																																																																				0.637	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		A	200820527	G	A	200820527	2	1	360	1	0	0	0	0	0	0	0	1	2169	1074	38	1		1	C2orf47	2	200820527	Silent	SNP	G	TCGA-29-2434-01A-01D-1526-09	2457128	200820527	42378846	17	19732											
ACCN4	55515	genome.wustl.edu	37	2	220396852	220396852	+	Splice_Site	SNP	T	T	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr2:220396852T>A	ENST00000347842.3	+	3	1250		c.e3+2		ASIC4_ENST00000358078.4_Splice_Site|ASIC4_ENST00000473709.1_Splice_Site	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4						ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GAACAGCGGGTGAGCATCTCC	0.632																																																0			2											51	54	53					2																	220396852		2203	4300	6503	220105096	SO:0001630	splice_region_variant	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1236+2T>A	2.37:g.220396852T>A			220105096	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Splice_Site	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223384	0.58668	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	.	.	.	3.8	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9255	0.35637	0.0:0.0916:0.0:0.9084	.	.	.	.	.	-1	.	.	.	+	.	.	ACCN4	220105096	1.000000	0.71417	0.987000	0.45799	0.907000	0.53573	6.044000	0.71012	0.654000	0.30846	-0.379000	0.06801	.		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674	Intron	A	220396852	T	A	220396852	5	1	360	1	0	0	0	0	0	0	1	0	131	1710	59	5	1248	5	ACCN4	2	220396852	Splice_Site	SNP	T	TCGA-29-2434-01A-01D-1526-09	19576325	220396852	22802521	18	19733											
WNT7A	7476	genome.wustl.edu	37	3	13896259	13896259	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:13896259C>A	ENST00000285018.4	-	3	644	c.340G>T	c.(340-342)Ggc>Tgc	p.G114C		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	114					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGGGCCACGCCGGCGGCAATG	0.637																																																0			3											82	77	79					3																	13896259		2203	4300	6503	13871260	SO:0001583	missense	7476			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.340G>T	3.37:g.13896259C>A	ENSP00000285018:p.Gly114Cys		13871260	Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819793	0.71028	.	.	ENSG00000154764	ENST00000285018	T	0.81078	-1.45	5.27	4.39	0.52855	.	0.168241	0.52532	D	0.000065	D	0.93344	0.7878	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95625	0.8684	10	0.87932	D	0	.	15.9014	0.79380	0.0:0.8643:0.1357:0.0	.	114	O00755	WNT7A_HUMAN	C	114	ENSP00000285018:G114C	ENSP00000285018:G114C	G	-	1	0	WNT7A	13871260	1.000000	0.71417	0.074000	0.20217	0.644000	0.38419	7.786000	0.85741	1.213000	0.43380	0.561000	0.74099	GGC		0.637	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		A	13896259	C	A	13896259	3	1	360	1	0	0	0	0	1	0	0	0	17394	652	23	3	717	3	WNT7A	3	13896259	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09		13896259	184126171	19	19734											
CCDC13	152206	genome.wustl.edu	37	3	42788802	42788802	+	Missense_Mutation	SNP	C	C	A	rs560123615		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:42788802C>A	ENST00000310232.6	-	6	750	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA|CCDC13_ENST00000435327.2_5'Flank	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	223										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTCGGAGGTCACTCATCTTC	0.567																																																0			3											80	71	74					3																	42788802		2203	4300	6503	42763806	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.667G>T	3.37:g.42788802C>A	ENSP00000309836:p.Asp223Tyr		42763806		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198029	0.79015	.	.	ENSG00000244607	ENST00000310232	T	0.25250	1.81	5.1	4.2	0.49525	.	0.196320	0.52532	N	0.000072	T	0.47948	0.1473	M	0.66939	2.045	0.39767	D	0.972101	B;D	0.89917	0.379;1.0	B;D	0.72338	0.111;0.977	T	0.53704	-0.8401	10	0.87932	D	0	.	13.5044	0.61476	0.1578:0.8422:0.0:0.0	.	223;223	Q96LI1;Q8IYE1	.;CCD13_HUMAN	Y	223	ENSP00000309836:D223Y	ENSP00000309836:D223Y	D	-	1	0	CCDC13	42763806	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.760000	0.74939	1.082000	0.41137	0.655000	0.94253	GAC		0.567	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		A	42788802	C	A	42788802	3	1	360	1	0	0	0	0	1	0	0	0	2765	826	29	3	1524	3	CCDC13	3	42788802	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	28892543	42788802	155233628	20	19735											
LAMB2	3913	genome.wustl.edu	37	3	49160307	49160307	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:49160307G>A	ENST00000418109.1	-	28	4567	c.4403C>T	c.(4402-4404)gCa>gTa	p.A1468V	USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.A1468V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1468	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCACCTTCTGCCAGTGCCCG	0.677																																																0			3											55	55	55					3																	49160307		2203	4300	6503	49135311	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4403C>T	3.37:g.49160307G>A	ENSP00000388325:p.Ala1468Val		49135311	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591654	0.28357	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.35421	1.31;1.31	5.6	1.01	0.19927	.	0.246709	0.39341	N	0.001383	T	0.14227	0.0344	N	0.11255	0.115	0.24415	N	0.994646	B	0.02656	0.0	B	0.04013	0.001	T	0.10177	-1.0641	10	0.30078	T	0.28	.	1.7915	0.03053	0.3919:0.2945:0.2027:0.1109	.	1468	P55268	LAMB2_HUMAN	V	1468;1468;235	ENSP00000388325:A1468V;ENSP00000307156:A1468V	ENSP00000307156:A1468V	A	-	2	0	LAMB2	49135311	0.039000	0.19947	0.994000	0.49952	0.991000	0.79684	-0.126000	0.10563	0.135000	0.18707	-0.137000	0.14449	GCA		0.677	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		A	49160307	G	A	49160307	3	1	360	1	0	0	0	0	1	0	0	0	8611	1319	46	2	1017	2	LAMB2	3	49160307	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	6371505	49160307	148862123	21	19736											
TLR9	54106	genome.wustl.edu	37	3	52257120	52257120	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:52257120G>T	ENST00000360658.2	-	2	1845	c.1212C>A	c.(1210-1212)aaC>aaA	p.N404K	TLR9_ENST00000494383.1_Missense_Mutation_p.P558T|TLR9_ENST00000597542.1_Missense_Mutation_p.N428K	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	404					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GCTGGGCCTGGTTGATGAAGT	0.632																																																0			3											66	69	68					3																	52257120		2203	4300	6503	52232160	SO:0001583	missense	54106			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1212C>A	3.37:g.52257120G>T	ENSP00000353874:p.Asn404Lys		52232160	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.23|12.23	1.875841|1.875841	0.33162|0.33162	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.34859|.	1.34|.	4.98|4.98	3.14|3.14	0.36123|0.36123	.|.	0.334909|.	0.21658|.	N|.	0.071071|.	T|T	0.26810|0.26810	0.0656|0.0656	L|L	0.31476|0.31476	0.935|0.935	0.09310|0.09310	N|N	1|1	B;P|.	0.36616|.	0.002;0.561|.	B;B|.	0.30495|.	0.002;0.116|.	T|T	0.19582|0.19582	-1.0301|-1.0301	10|5	0.10902|.	T|.	0.67|.	.|.	6.0712|6.0712	0.19891|0.19891	0.0895:0.0:0.5783:0.3321|0.0895:0.0:0.5783:0.3321	.|.	501;404|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	K|T	404|558	ENSP00000353874:N404K|.	ENSP00000353874:N404K|.	N|P	-|-	3|1	2|0	TLR9|RP11-330H6.5	52232160|52232160	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.510000|0.510000	0.34073|0.34073	0.154000|0.154000	0.16343|0.16343	0.579000|0.579000	0.29504|0.29504	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.632	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			T	52257120	G	T	52257120	3	4	360	1	0	0	0	0	1	0	0	0	15958	1252	44	3	1890	3	TLR9	3	52257120	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	3096813	52257120	145765310	22	19737											
TMEM22	80723	genome.wustl.edu	37	3	136573892	136573892	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:136573892T>C	ENST00000446465.2	+	2	1218	c.590T>C	c.(589-591)aTg>aCg	p.M197T	RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.M197T|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GGGACCACTATGTGGAGAGCC	0.398																																																0			3											124	118	120					3																	136573892		2203	4300	6503	138056582	SO:0001583	missense	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.590T>C	3.37:g.136573892T>C	ENSP00000400839:p.Met197Thr		138056582		Missense_Mutation	SNP	ENST00000446465.2	37	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	T	8.109	0.778395	0.16120	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.51071	0.72;0.72	5.69	5.69	0.88448	Drug/metabolite transporter (1);	0.038007	0.85682	D	0.000000	T	0.31263	0.0791	N	0.08118	0	0.80722	D	1	B	0.17268	0.021	B	0.21151	0.033	T	0.11717	-1.0576	10	0.52906	T	0.07	.	14.7734	0.69696	0.0:0.0:0.0:1.0	.	197	Q8TBE7	TMM22_HUMAN	T	197	ENSP00000400839:M197T;ENSP00000376794:M197T	ENSP00000376794:M197T	M	+	2	0	TMEM22	138056582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.167000	0.68274	0.482000	0.46254	ATG		0.398	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		C	136573892	T	C	136573892	3	2	360	1	0	0	0	0	1	0	0	0	16143	1464	51	4	592	4	TMEM22	3	136573892	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09	84316772	136573892	61448538	23	19738											
HPS3	84343	genome.wustl.edu	37	3	148875272	148875272	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:148875272G>A	ENST00000296051.2	+	9	1785	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	HPS3_ENST00000460120.1_Missense_Mutation_p.E384K	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	549					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGAGCTTTTGGAAGCATTTAA	0.517									Hermansky-Pudlak syndrome																																							0			3											90	83	86					3																	148875272		2203	4300	6503	150357962	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1645G>A	3.37:g.148875272G>A	ENSP00000296051:p.Glu549Lys		150357962	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189206	0.78789	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.64438	-0.1;-0.1	5.68	5.68	0.88126	.	0.280166	0.39759	N	0.001270	T	0.61590	0.2359	M	0.67953	2.075	0.37617	D	0.921143	P;P	0.36010	0.532;0.532	B;B	0.38755	0.281;0.281	T	0.63047	-0.6724	10	0.24483	T	0.36	-6.736	13.4761	0.61310	0.0806:0.0:0.9194:0.0	.	384;549	G5E9V4;Q969F9	.;HPS3_HUMAN	K	549;384	ENSP00000296051:E549K;ENSP00000418230:E384K	ENSP00000296051:E549K	E	+	1	0	HPS3	150357962	1.000000	0.71417	0.856000	0.33681	0.998000	0.95712	5.639000	0.67868	2.702000	0.92279	0.655000	0.94253	GAA		0.517	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		A	148875272	G	A	148875272	3	1	360	1	0	0	0	0	1	0	0	0	7340	1175	41	2	1679	2	HPS3	3	148875272	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	12301380	148875272	49147158	24	19739											
KPNA4	3840	genome.wustl.edu	37	3	160233298	160233298	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:160233298C>G	ENST00000334256.4	-	12	1279	c.974G>C	c.(973-975)tGt>tCt	p.C325S	SCARNA7_ENST00000458797.1_RNA	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	325	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAGAGCATCACAGTTCAAAAC	0.368																																																0			3											124	105	111					3																	160233298		2203	4300	6503	161715992	SO:0001583	missense	3840			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.974G>C	3.37:g.160233298C>G	ENSP00000334373:p.Cys325Ser		161715992	A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471260	0.63625	.	.	ENSG00000186432	ENST00000334256;ENST00000483437	T;T	0.66995	-0.24;-0.24	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.042337	0.85682	D	0.000000	T	0.62097	0.2400	L	0.37561	1.115	0.80722	D	1	B	0.28258	0.205	B	0.32090	0.14	T	0.56583	-0.7955	10	0.32370	T	0.25	-1.3555	19.8667	0.96806	0.0:1.0:0.0:0.0	.	325	O00629	IMA4_HUMAN	S	325;30	ENSP00000334373:C325S;ENSP00000417172:C30S	ENSP00000334373:C325S	C	-	2	0	KPNA4	161715992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.668000	0.83897	2.773000	0.95371	0.655000	0.94253	TGT		0.368	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		G	160233298	C	G	160233298	3	3	360	1	0	0	0	0	1	0	0	0	8432	478	17	3	615	3	KPNA4	3	160233298	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	11358026	160233298	37789132	25	19740											
SAMD7	344658	genome.wustl.edu	37	3	169644857	169644857	+	Silent	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:169644857C>G	ENST00000428432.2	+	6	1196	c.807C>G	c.(805-807)acC>acG	p.T269T	SAMD7_ENST00000335556.3_Silent_p.T269T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	269										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ACACCACTACCCTGAAAGCAA	0.532																																																0			3											68	67	67					3																	169644857		2203	4300	6503	171127551	SO:0001819	synonymous_variant	344658			BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.807C>G	3.37:g.169644857C>G			171127551		Silent	SNP	ENST00000428432.2	37	CCDS3209.1																																																																																				0.532	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		G	169644857	C	G	169644857	2	3	360	1	0	0	0	0	0	0	0	1	13827	610	22	3		3	SAMD7	3	169644857	Silent	SNP	C	TCGA-29-2434-01A-01D-1526-09	9411559	169644857	28377573	26	19741											
EIF4G1	1981	genome.wustl.edu	37	3	184045201	184045201	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:184045201G>C	ENST00000346169.2	+	24	3897	c.3626G>C	c.(3625-3627)aGc>aCc	p.S1209T	EIF4G1_ENST00000411531.1_Missense_Mutation_p.S1170T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S1045T|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S1123T|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S1210T|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S1216T|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S1169T|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S1216T|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S1046T|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S1014T|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S1216T|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S1013T|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S1122T|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S1209T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1209					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGGCAGCTAGCCTCACGGAG	0.652																																																0			3											30	34	33					3																	184045201		2201	4298	6499	185527895	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3626G>C	3.37:g.184045201G>C	ENSP00000316879:p.Ser1209Thr		185527895	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354970	0.61293	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05081	3.72;3.73;3.64;3.73;3.54;3.73;3.64;3.72;3.72;3.73;3.73;3.52;3.5;3.51	5.2	5.2	0.72013	.	0.232224	0.41001	D	0.000972	T	0.12305	0.0299	L	0.50333	1.59	0.58432	D	0.999999	P;P;P	0.45715	0.865;0.865;0.865	P;P;P	0.45913	0.497;0.497;0.497	T	0.01188	-1.1424	10	0.45353	T	0.12	-11.7154	18.9316	0.92568	0.0:0.0:1.0:0.0	.	1216;1210;1209	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	T	1209;1169;1122;1216;1045;1216;1123;1210;1209;1216;1170;1046;1014;1013	ENSP00000316879:S1209T;ENSP00000391935:S1169T;ENSP00000376320:S1122T;ENSP00000371767:S1216T;ENSP00000317600:S1045T;ENSP00000338020:S1216T;ENSP00000407682:S1123T;ENSP00000343450:S1210T;ENSP00000323737:S1209T;ENSP00000416255:S1216T;ENSP00000395974:S1170T;ENSP00000399858:S1046T;ENSP00000411826:S1014T;ENSP00000404754:S1013T	ENSP00000323737:S1209T	S	+	2	0	EIF4G1	185527895	1.000000	0.71417	0.965000	0.40720	0.224000	0.24922	8.865000	0.92300	2.691000	0.91804	0.655000	0.94253	AGC		0.652	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		C	184045201	G	C	184045201	3	2	360	1	0	0	0	0	1	0	0	0	5036	971	34	3	3712	3	EIF4G1	3	184045201	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	14400344	184045201	13977229	27	19742											
ATP13A5	344905	genome.wustl.edu	37	3	193042677	193042677	+	Silent	SNP	G	G	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr3:193042677G>C	ENST00000342358.4	-	14	1767	c.1650C>G	c.(1648-1650)ctC>ctG	p.L550L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	550						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAAACATTTTGAGGTCCAGAG	0.507																																																0			3											174	186	182					3																	193042677		2203	4300	6503	194525371	SO:0001819	synonymous_variant	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1650C>G	3.37:g.193042677G>C			194525371	Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	CCDS33914.1																																																																																				0.507	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		C	193042677	G	C	193042677	2	2	360	1	0	0	0	0	0	0	0	1	1127	1277	45	3		3	ATP13A5	3	193042677	Silent	SNP	G	TCGA-29-2434-01A-01D-1526-09	8997476	193042677	4979753	28	19743											
EVC2	132884	genome.wustl.edu	37	4	5699354	5699354	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr4:5699354C>A	ENST00000344408.5	-	2	302	c.249G>T	c.(247-249)tgG>tgT	p.W83C	EVC2_ENST00000344938.1_Missense_Mutation_p.W83C|EVC2_ENST00000310917.2_Missense_Mutation_p.W3C	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	83					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCACTTTGGGCCAAATCATAC	0.388																																																0			4											116	105	109					4																	5699354		2203	4300	6503	5750255	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.249G>T	4.37:g.5699354C>A	ENSP00000342144:p.Trp83Cys		5750255	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175656	0.21704	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.79352	-1.05;-1.26;-1.08	3.94	3.0	0.34707	.	2.608810	0.01394	N	0.013350	T	0.75539	0.3863	L	0.29908	0.895	0.18873	N	0.999988	D	0.63046	0.992	P	0.49561	0.615	T	0.65384	-0.6181	10	0.54805	T	0.06	-4.073	8.2312	0.31599	0.2372:0.7628:0.0:0.0	.	83	Q86UK5	LBN_HUMAN	C	83;3;83	ENSP00000339954:W83C;ENSP00000311683:W3C;ENSP00000342144:W83C	ENSP00000311683:W3C	W	-	3	0	EVC2	5750255	0.014000	0.17966	0.085000	0.20634	0.022000	0.10575	1.067000	0.30616	1.899000	0.54978	0.655000	0.94253	TGG		0.388	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		A	5699354	C	A	5699354	3	1	360	1	0	0	0	0	1	0	0	0	5286	740	26	3	3761	3	EVC2	4	5699354	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09		5699354	185454922	29	19744											
ATP10D	57205	genome.wustl.edu	37	4	47593177	47593177	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr4:47593177G>A	ENST00000273859.3	+	23	4329	c.4060G>A	c.(4060-4062)Gga>Aga	p.G1354R		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1354					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAGAGGGGCTGGAAAGATGAA	0.473																																																0			4											109	109	109					4																	47593177		2203	4300	6503	47287934	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.4060G>A	4.37:g.47593177G>A	ENSP00000273859:p.Gly1354Arg		47287934	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.115010	0.20795	.	.	ENSG00000145246	ENST00000273859	T	0.37584	1.19	4.62	1.53	0.23141	.	0.880696	0.09877	N	0.744156	T	0.21631	0.0521	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29549	-1.0008	10	0.15499	T	0.54	-1.3522	2.9134	0.05744	0.3551:0.0:0.3325:0.3124	.	1354	Q9P241	AT10D_HUMAN	R	1354	ENSP00000273859:G1354R	ENSP00000273859:G1354R	G	+	1	0	ATP10D	47287934	0.001000	0.12720	0.006000	0.13384	0.282000	0.26991	0.837000	0.27558	0.487000	0.27698	0.460000	0.39030	GGA		0.473	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		A	47593177	G	A	47593177	3	1	360	1	0	0	0	0	1	0	0	0	1118	1349	47	2	4146	2	ATP10D	4	47593177	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	41893823	47593177	143561099	30	19745											
KDR	3791	genome.wustl.edu	37	4	55968612	55968612	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr4:55968612A>T	ENST00000263923.4	-	14	2346	c.2051T>A	c.(2050-2052)aTc>aAc	p.I684N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	684	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGACTTCGATGCTTTCCCC	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											196	165	176					4																	55968612		2203	4300	6503	55663369	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2051T>A	4.37:g.55968612A>T	ENSP00000263923:p.Ile684Asn		55663369	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357325	0.61293	.	.	ENSG00000128052	ENST00000263923	D	0.82619	-1.63	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109051	0.64402	D	0.000012	D	0.91610	0.7349	M	0.89414	3.03	0.54753	D	0.999985	D	0.56746	0.977	P	0.61003	0.882	D	0.93007	0.6428	10	0.87932	D	0	.	16.1843	0.81939	1.0:0.0:0.0:0.0	.	684	P35968	VGFR2_HUMAN	N	684	ENSP00000263923:I684N	ENSP00000263923:I684N	I	-	2	0	KDR	55663369	1.000000	0.71417	0.988000	0.46212	0.084000	0.17831	7.906000	0.87423	2.302000	0.77476	0.533000	0.62120	ATC		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55968612	A	T	55968612	3	4	360	1	0	0	0	0	1	0	0	0	8139	333	12	5	2087	5	KDR	4	55968612	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	8375435	55968612	135185664	31	19746											
UGT2A3	79799	genome.wustl.edu	37	4	69817045	69817045	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr4:69817045A>G	ENST00000251566.4	-	1	464	c.434T>C	c.(433-435)gTa>gCa	p.V145A	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	145					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATAAGCATTACATCGTAGTT	0.398																																																0			4											75	75	75					4																	69817045		2203	4300	6503	69851634	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.434T>C	4.37:g.69817045A>G	ENSP00000251566:p.Val145Ala		69851634	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.755406	0.49362	.	.	ENSG00000135220	ENST00000251566	T	0.61742	0.08	4.74	3.57	0.40892	.	0.079729	0.51477	D	0.000093	T	0.65428	0.2690	L	0.58583	1.82	0.52099	D	0.999948	D	0.64830	0.994	D	0.68483	0.958	T	0.60915	-0.7168	10	0.20519	T	0.43	.	8.0985	0.30844	0.9044:0.0:0.0956:0.0	.	145	Q6UWM9	UD2A3_HUMAN	A	145	ENSP00000251566:V145A	ENSP00000251566:V145A	V	-	2	0	UGT2A3	69851634	0.063000	0.20901	0.005000	0.12908	0.251000	0.25915	3.632000	0.54287	0.868000	0.35678	0.482000	0.46254	GTA		0.398	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		G	69817045	A	G	69817045	3	3	360	1	0	0	0	0	1	0	0	0	16955	391	14	4	1173	4	UGT2A3	4	69817045	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	13848433	69817045	121337231	32	19747											
SYNPO2	171024	genome.wustl.edu	37	4	119978619	119978619	+	Missense_Mutation	SNP	T	T	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr4:119978619T>A	ENST00000307142.4	+	5	3512	c.3316T>A	c.(3316-3318)Tgg>Agg	p.W1106R	SYNPO2_ENST00000448416.2_Silent_p.L107L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TACATCTCCTTGGGTATACCA	0.433																																																0			4											86	87	87					4																	119978619		2203	4300	6503	120198067	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3316T>A	4.37:g.119978619T>A	ENSP00000306015:p.Trp1106Arg		120198067	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	CCDS34054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.189257|4.189257	0.78789|0.78789	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142	.|T	.|0.08102	.|3.13	5.7|5.7	4.32|4.32	0.51571|0.51571	.|.	.|0.567894	.|0.14946	.|N	.|0.289198	.|T	.|0.06188	.|0.0160	L|L	0.27053|0.27053	0.805|0.805	0.20074|0.20074	N|N	0.999936|0.999936	.|P;P	.|0.43094	.|0.697;0.799	.|B;B	.|0.41691	.|0.364;0.281	.|T	.|0.29458	.|-1.0011	.|9	.|.	.|.	.|.	-0.931|-0.931	4.7137|4.7137	0.12884|0.12884	0.0:0.1286:0.194:0.6774|0.0:0.1286:0.194:0.6774	.|.	.|1106;1106	.|B9EG60;Q9UMS6-2	.|.;.	X|R	999|1106	.|ENSP00000306015:W1106R	.|.	L|W	+|+	2|1	0|0	SYNPO2|SYNPO2	120198067|120198067	0.645000|0.645000	0.27286|0.27286	0.052000|0.052000	0.19188|0.19188	0.739000|0.739000	0.42172|0.42172	0.337000|0.337000	0.19841|0.19841	2.178000|2.178000	0.69098|0.69098	0.533000|0.533000	0.62120|0.62120	TTG|TGG		0.433	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			A	119978619	T	A	119978619	3	1	360	1	0	0	0	0	1	0	0	0	15457	1812	63	5	3446	5	SYNPO2	4	119978619	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09	50161574	119978619	71175657	33	19748											
CDH9	1007	genome.wustl.edu	37	5	26915874	26915874	+	Silent	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr5:26915874C>T	ENST00000231021.4	-	3	559	c.387G>A	c.(385-387)aaG>aaA	p.K129K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K129N(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTCTATAGCCTTGGCACGAA	0.383																																					Melanoma(8;187 585 15745 40864 52829)											1	Substitution - Missense(1)	large_intestine(1)	5											154	154	154					5																	26915874		2203	4299	6502	26951631	SO:0001819	synonymous_variant	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.387G>A	5.37:g.26915874C>T			26951631	Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																				0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26915874	C	T	26915874	2	4	360	1	0	0	0	0	0	0	0	1	3117	680	24	2		2	CDH9	5	26915874	Silent	SNP	C	TCGA-29-2434-01A-01D-1526-09		26915874	153999386	34	19749											
EGFLAM	133584	genome.wustl.edu	37	5	38427278	38427278	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr5:38427278G>C	ENST00000354891.3	+	14	2324	c.1978G>C	c.(1978-1980)Gac>Cac	p.D660H	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D26H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D426H|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D660H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	660	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGGCAGCAAAGACTTCCTGTC	0.547																																					Colon(62;485 1295 3347 17454)											0			5											154	153	153					5																	38427278		2203	4300	6503	38463035	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1978G>C	5.37:g.38427278G>C	ENSP00000346964:p.Asp660His		38463035	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357277	0.82243	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;D	0.82167	-0.82;-0.82;-0.82;-1.58	5.76	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.095776	0.64402	D	0.000001	D	0.94056	0.8095	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95951	0.8954	10	0.87932	D	0	-29.6224	16.607	0.84832	0.0:0.1303:0.8697:0.0	.	426;660;660	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	660;660;426;26;426	ENSP00000346964:D660H;ENSP00000313084:D660H;ENSP00000337607:D426H;ENSP00000380385:D26H	ENSP00000313084:D660H	D	+	1	0	EGFLAM	38463035	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.395000	0.97266	1.399000	0.46721	0.655000	0.94253	GAC		0.547	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		C	38427278	G	C	38427278	3	2	360	1	0	0	0	0	1	0	0	0	4966	942	33	3	2046	3	EGFLAM	5	38427278	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	11511404	38427278	142487982	35	19750											
RASGRF2	5924	genome.wustl.edu	37	5	80422919	80422919	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr5:80422919T>C	ENST00000265080.4	+	17	2690	c.2623T>C	c.(2623-2625)Tct>Cct	p.S875P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	875					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGCCCACTGCTCTGTTTCACC	0.458																																																0			5											65	65	65					5																	80422919		2203	4300	6503	80458675	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2623T>C	5.37:g.80422919T>C	ENSP00000265080:p.Ser875Pro		80458675	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048201	0.36181	.	.	ENSG00000113319	ENST00000265080	T	0.75260	-0.92	5.92	4.74	0.60224	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.249746	0.48767	N	0.000170	T	0.59676	0.2211	N	0.22421	0.69	0.38153	D	0.938817	B	0.06786	0.001	B	0.04013	0.001	T	0.55289	-0.8164	10	0.27785	T	0.31	.	11.533	0.50620	0.0:0.0:0.2822:0.7178	.	875	O14827	RGRF2_HUMAN	P	875	ENSP00000265080:S875P	ENSP00000265080:S875P	S	+	1	0	RASGRF2	80458675	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.045000	0.41250	1.026000	0.39733	0.528000	0.53228	TCT		0.458	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		C	80422919	T	C	80422919	3	2	360	1	0	0	0	0	1	0	0	0	13076	1551	54	4	2689	4	RASGRF2	5	80422919	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09	41995641	80422919	100492341	36	19751											
SCGN	10590	genome.wustl.edu	37	6	25682188	25682188	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr6:25682188T>G	ENST00000377961.2	+	7	649	c.481T>G	c.(481-483)Ttt>Gtt	p.F161V	SCGN_ENST00000334979.6_Intron	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	161	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GATGAAGATTTTTGACAGAAA	0.348																																																0			6											109	103	105					6																	25682188		2203	4300	6503	25790167	SO:0001583	missense	10590			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.481T>G	6.37:g.25682188T>G	ENSP00000367197:p.Phe161Val		25790167	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100453	0.76983	.	.	ENSG00000079689	ENST00000377961	T	0.71817	-0.6	5.06	5.06	0.68205	EF-hand-like domain (1);	0.044665	0.85682	D	0.000000	T	0.81470	0.4829	M	0.85945	2.785	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.84694	0.0724	10	0.72032	D	0.01	.	12.7148	0.57109	0.0:0.0:0.0:1.0	.	161	O76038	SEGN_HUMAN	V	161	ENSP00000367197:F161V	ENSP00000367197:F161V	F	+	1	0	SCGN	25790167	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	5.622000	0.67750	2.231000	0.72958	0.533000	0.62120	TTT		0.348	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			G	25682188	T	G	25682188	3	3	360	1	0	0	0	0	1	0	0	0	13906	1841	64	5	507	5	SCGN	6	25682188	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09		25682188	145432879	37	19752											
DNAH8	1769	genome.wustl.edu	37	6	38862480	38862480	+	Nonsense_Mutation	SNP	A	A	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr6:38862480A>T	ENST00000359357.3	+	57	8190	c.7936A>T	c.(7936-7938)Aag>Tag	p.K2646*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.K2610*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.K2863*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2646	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTCTAGGTGAAGATGCTGCC	0.343																																																0			6											78	76	77					6																	38862480		2203	4300	6503	38970458	SO:0001587	stop_gained	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7936A>T	6.37:g.38862480A>T	ENSP00000352312:p.Lys2646*		38970458	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	51	17.817845	0.99894	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2987	0.73931	1.0:0.0:0.0:0.0	.	.	.	.	X	2851;2851;2646;2610	.	ENSP00000333363:K2851X	K	+	1	0	DNAH8	38970458	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	6.891000	0.75639	1.999000	0.58509	0.455000	0.32223	AAG		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38862480	A	T	38862480	4	4	360	1	0	0	0	0	0	1	0	0	4607	247	9	5	8154	5	DNAH8	6	38862480	Nonsense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	13180292	38862480	132252587	38	19753											
ZNF318	24149	genome.wustl.edu	37	6	43307012	43307012	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr6:43307012C>T	ENST00000361428.2	-	10	4801	c.4724G>A	c.(4723-4725)aGt>aAt	p.S1575N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1575					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTTCCACCACTACTATAGAA	0.468																																																0			6											52	56	55					6																	43307012		2203	4299	6502	43414990	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4724G>A	6.37:g.43307012C>T	ENSP00000354964:p.Ser1575Asn		43414990	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272507	0.59649	.	.	ENSG00000171467	ENST00000361428	T	0.21031	2.03	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.24509	0.0594	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.07849	-1.0751	10	0.87932	D	0	-11.219	17.3046	0.87191	0.0:1.0:0.0:0.0	.	1575	Q5VUA4	ZN318_HUMAN	N	1575	ENSP00000354964:S1575N	ENSP00000354964:S1575N	S	-	2	0	ZNF318	43414990	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.821000	0.55700	2.756000	0.94617	0.563000	0.77884	AGT		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43307012	C	T	43307012	3	4	360	1	0	0	0	0	1	0	0	0	17836	565	20	2	2119	2	ZNF318	6	43307012	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	4444532	43307012	127808055	39	19754											
ZNF318	24149	genome.wustl.edu	37	6	43323046	43323046	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr6:43323046G>T	ENST00000361428.2	-	4	2103	c.2026C>A	c.(2026-2028)Cta>Ata	p.L676I	ZNF318_ENST00000318149.3_Missense_Mutation_p.L676I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	676					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGCTCTCTAGTCTGTGGGGA	0.537																																																0			6											158	119	132					6																	43323046		2203	4300	6503	43431024	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2026C>A	6.37:g.43323046G>T	ENSP00000354964:p.Leu676Ile		43431024	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100587	0.37048	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.34275	1.37;2.64	6.17	0.367	0.16140	.	0.353710	0.27535	N	0.018924	T	0.16342	0.0393	N	0.19112	0.55	0.21553	N	0.999648	D	0.59767	0.986	P	0.57776	0.827	T	0.12604	-1.0541	10	0.44086	T	0.13	-0.3436	6.3155	0.21188	0.3364:0.1176:0.546:0.0	.	676	Q5VUA4	ZN318_HUMAN	I	676	ENSP00000323032:L676I;ENSP00000354964:L676I	ENSP00000323032:L676I	L	-	1	2	ZNF318	43431024	0.924000	0.31332	0.482000	0.27366	0.724000	0.41520	0.834000	0.27518	-0.217000	0.10033	-0.175000	0.13238	CTA		0.537	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43323046	G	T	43323046	3	4	360	1	0	0	0	0	1	0	0	0	17836	1020	36	3	4841	3	ZNF318	6	43323046	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	16034	43323046	127792021	40	19755											
BAI3	577	genome.wustl.edu	37	6	69348999	69348999	+	Silent	SNP	A	A	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr6:69348999A>G	ENST00000370598.1	+	3	1253	c.432A>G	c.(430-432)aaA>aaG	p.K144K		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	144	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TACAGAAAAAAGGGGAAGAAG	0.353																																																0			6											50	52	51					6																	69348999		2203	4300	6503	69405720	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.432A>G	6.37:g.69348999A>G			69405720	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.353	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			G	69348999	A	G	69348999	2	3	360	1	0	0	0	0	0	0	0	1	1300	69	3	4		4	BAI3	6	69348999	Silent	SNP	A	TCGA-29-2434-01A-01D-1526-09	26025953	69348999	101766068	41	19756											
ME1	4199	genome.wustl.edu	37	6	84061798	84061798	+	Silent	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr6:84061798T>C	ENST00000369705.3	-	4	539	c.423A>G	c.(421-423)ccA>ccG	p.P141P	ME1_ENST00000543031.1_Silent_p.P66P|ME1_ENST00000541327.1_5'UTR	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	141					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TGACATCTTCTGGCCATGCAT	0.318																																																0			6											63	55	58					6																	84061798		2203	4300	6503	84118517	SO:0001819	synonymous_variant	4199			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.423A>G	6.37:g.84061798T>C			84118517	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	CCDS34492.1																																																																																				0.318	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			C	84061798	T	C	84061798	2	2	360	1	0	0	0	0	0	0	0	1	9417	1567	55	4		4	ME1	6	84061798	Silent	SNP	T	TCGA-29-2434-01A-01D-1526-09	14712799	84061798	87053269	42	19757											
ADCYAP1R1	117	genome.wustl.edu	37	7	31124406	31124406	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr7:31124406C>G	ENST00000304166.4	+	8	782	c.493C>G	c.(493-495)Ctc>Gtc	p.L165V	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.L144V|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.L165V|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.L165V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	165					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CAGCACATCCCTCGTCACCCT	0.567																																					Ovarian(44;225 1186 2158 11092)											0			7											299	221	248					7																	31124406		2203	4300	6503	31090931	SO:0001583	missense	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.493C>G	7.37:g.31124406C>G	ENSP00000306620:p.Leu165Val		31090931	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943328	0.73672	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.53857	1.08;0.6;0.6;0.6	5.8	4.92	0.64577	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	T	0.72120	0.3421	M	0.81497	2.545	0.50467	D	0.999871	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.999;0.996;0.996	T	0.74538	-0.3632	10	0.49607	T	0.09	.	12.4524	0.55684	0.0:0.9196:0.0:0.0804	.	165;165;165;144;165	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	V	165;144;165;165	ENSP00000306620:L165V;ENSP00000387335:L144V;ENSP00000379514:L165V;ENSP00000386395:L165V	ENSP00000306620:L165V	L	+	1	0	ADCYAP1R1	31090931	1.000000	0.71417	0.962000	0.40283	0.890000	0.51754	3.955000	0.56715	1.455000	0.47813	0.655000	0.94253	CTC		0.567	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		G	31124406	C	G	31124406	3	3	360	1	0	0	0	0	1	0	0	0	303	681	24	3	519	3	ADCYAP1R1	7	31124406	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09		31124406	128014257	43	19758											
AVL9	23080	genome.wustl.edu	37	7	32535410	32535410	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr7:32535410G>A	ENST00000318709.4	+	1	310	c.89G>A	c.(88-90)tGc>tAc	p.C30Y	LSM5_ENST00000409952.3_5'Flank|AVL9_ENST00000404479.1_Missense_Mutation_p.C30Y|AVL9_ENST00000459629.1_3'UTR|AVL9_ENST00000409301.1_Missense_Mutation_p.C30Y|LSM5_ENST00000409909.3_5'Flank	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	30					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AAGAAGGGCTGCCAGGTGAGG	0.721																																																0			7											11	15	14					7																	32535410		1894	3693	5587	32501935	SO:0001583	missense	23080			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.89G>A	7.37:g.32535410G>A	ENSP00000315568:p.Cys30Tyr		32501935	Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893469	0.72639	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479	T;T;T	0.46819	0.86;0.86;0.86	2.84	1.94	0.25998	.	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	L	0.59436	1.845	0.80722	D	1	P;P	0.36392	0.551;0.457	B;B	0.38378	0.272;0.255	T	0.26985	-1.0087	10	0.23302	T	0.38	-19.5098	12.0316	0.53401	0.0:0.1771:0.8229:0.0	.	30;30	Q8N6Z3;Q8NBF6	.;AVL9_HUMAN	Y	30	ENSP00000315568:C30Y;ENSP00000387011:C30Y;ENSP00000385242:C30Y	ENSP00000315568:C30Y	C	+	2	0	AVL9	32501935	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.006000	0.70724	0.745000	0.32763	0.561000	0.74099	TGC		0.721	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		A	32535410	G	A	32535410	3	1	360	1	0	0	0	0	1	0	0	0	1228	1319	46	2	91	2	AVL9	7	32535410	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	1411004	32535410	126603253	44	19759											
POM121	9883	genome.wustl.edu	37	7	72413915	72413915	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr7:72413915G>C	ENST00000434423.2	+	11	3383	c.3383G>C	c.(3382-3384)aGc>aCc	p.S1128T	POM121_ENST00000358357.3_Missense_Mutation_p.S863T|POM121_ENST00000446813.1_Missense_Mutation_p.S863T|POM121_ENST00000395270.1_Missense_Mutation_p.S863T|POM121_ENST00000257622.4_Missense_Mutation_p.S863T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1128	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGAGCTTTCAGCTTTGGAGCA	0.647																																																0			7											24	24	24					7																	72413915		2201	4299	6500	72051851	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3383G>C	7.37:g.72413915G>C	ENSP00000405562:p.Ser1128Thr		72051851	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	G	5.492	0.275827	0.10403	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.07327	3.2;3.23;3.2;3.23;3.4	3.01	1.02	0.19986	.	0.295611	0.24285	N	0.039873	T	0.09202	0.0227	M	0.73217	2.22	0.21020	N	0.999806	P;P	0.40731	0.728;0.728	B;B	0.38616	0.277;0.277	T	0.16571	-1.0398	10	0.40728	T	0.16	.	5.1481	0.14996	0.1236:0.2133:0.6631:0.0	.	863;1128	A8MXF9;Q96HA1	.;P121A_HUMAN	T	863;863;863;863;1128	ENSP00000393020:S863T;ENSP00000257622:S863T;ENSP00000378687:S863T;ENSP00000351124:S863T;ENSP00000405562:S1128T	ENSP00000257622:S863T	S	+	2	0	POM121	72051851	0.991000	0.36638	0.006000	0.13384	0.006000	0.05464	0.068000	0.14531	0.106000	0.17784	0.391000	0.25812	AGC		0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			C	72413915	G	C	72413915	3	2	360	1	0	0	0	0	1	0	0	0	12239	971	34	3	2626	3	POM121	7	72413915	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	39878505	72413915	86724748	45	19760											
GRM3	2913	genome.wustl.edu	37	7	86416244	86416244	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr7:86416244T>G	ENST00000361669.2	+	3	2235	c.1136T>G	c.(1135-1137)aTc>aGc	p.I379S	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.I379S|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.I251S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.I377S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	379					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CACCTGGCCATCGACAGCAGC	0.567																																					GBM(52;969 1098 3139 52280)											0			7											125	104	111					7																	86416244		2203	4300	6503	86254180	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1136T>G	7.37:g.86416244T>G	ENSP00000355316:p.Ile379Ser		86254180	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358309	0.82243	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.233996	0.48286	D	0.000194	D	0.90981	0.7164	L	0.51853	1.615	0.58432	D	0.999999	B;P;B	0.44816	0.396;0.844;0.243	P;P;P	0.61132	0.798;0.884;0.87	D	0.91173	0.4970	10	0.56958	D	0.05	.	15.5577	0.76213	0.0:0.0:0.0:1.0	.	251;379;379	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	S	379;251;379;377	ENSP00000355316:I379S;ENSP00000441407:I251S;ENSP00000398767:I379S;ENSP00000378209:I377S	ENSP00000355316:I379S	I	+	2	0	GRM3	86254180	0.999000	0.42202	0.979000	0.43373	0.995000	0.86356	6.142000	0.71750	2.263000	0.75096	0.533000	0.62120	ATC		0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			G	86416244	T	G	86416244	3	3	360	1	0	0	0	0	1	0	0	0	6798	1435	50	5	1142	5	GRM3	7	86416244	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09	14002329	86416244	72722419	46	19761											
ABCB1	5243	genome.wustl.edu	37	7	87144616	87144616	+	Missense_Mutation	SNP	G	G	T	rs202201068		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr7:87144616G>T	ENST00000265724.3	-	26	3630	c.3213C>A	c.(3211-3213)agC>agA	p.S1071R	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S1007R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1071	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CACAGCCACTGCTGCCCACCA	0.572																																																0			7											66	61	63					7																	87144616		2203	4300	6503	86982552	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3213C>A	7.37:g.87144616G>T	ENSP00000265724:p.Ser1071Arg		86982552	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919938	0.73098	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.93488	-3.23;-3.23	6.06	5.18	0.71444	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.311492	0.44483	D	0.000446	D	0.89354	0.6691	N	0.10645	0.015	0.80722	D	1	P;D	0.54047	0.895;0.964	B;P	0.50617	0.173;0.646	D	0.91538	0.5247	10	0.72032	D	0.01	-4.2895	14.4176	0.67160	0.0701:0.0:0.9299:0.0	.	1007;1071	B5AK60;P08183	.;MDR1_HUMAN	R	852;1071;1007	ENSP00000265724:S1071R;ENSP00000444095:S1007R	ENSP00000265724:S1071R	S	-	3	2	ABCB1	86982552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.775000	0.75018	1.584000	0.49913	0.655000	0.94253	AGC		0.572	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		T	87144616	G	T	87144616	3	4	360	1	0	0	0	0	1	0	0	0	40	1310	46	3	645	3	ABCB1	7	87144616	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	728372	87144616	71994047	47	19762											
TRIM24	8805	genome.wustl.edu	37	7	138261140	138261140	+	Silent	SNP	A	A	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr7:138261140A>C	ENST00000343526.4	+	13	2252	c.2037A>C	c.(2035-2037)gtA>gtC	p.V679V	TRIM24_ENST00000415680.2_Silent_p.V645V			O15164	TIF1A_HUMAN	tripartite motif containing 24	679					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGACTAGTGTACACCCCCCAA	0.393																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											0			7											152	137	142					7																	138261140		2203	4300	6503	137911680	SO:0001819	synonymous_variant	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2037A>C	7.37:g.138261140A>C			137911680	A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	CCDS5847.1																																																																																				0.393	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		C	138261140	A	C	138261140	2	2	360	1	0	0	0	0	0	0	0	1	16498	378	14	5		5	TRIM24	7	138261140	Silent	SNP	A	TCGA-29-2434-01A-01D-1526-09	51116524	138261140	20877523	48	19763											
SLC4A2	6522	genome.wustl.edu	37	7	150769178	150769178	+	Silent	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr7:150769178G>A	ENST00000485713.1	+	16	3530	c.2490G>A	c.(2488-2490)ttG>ttA	p.L830L	SLC4A2_ENST00000392826.2_Silent_p.L821L|SLC4A2_ENST00000310317.5_Silent_p.L748L|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Silent_p.L830L|SLC4A2_ENST00000461735.1_Silent_p.L816L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	830	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCCTTCTTGATCTCACTCA	0.617																																																0			7											148	151	150					7																	150769178		2203	4300	6503	150400111	SO:0001819	synonymous_variant	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2490G>A	7.37:g.150769178G>A			150400111	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	CCDS5917.1																																																																																				0.617	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		A	150769178	G	A	150769178	2	1	360	1	0	0	0	0	0	0	0	1	14657	1281	45	2		2	SLC4A2	7	150769178	Silent	SNP	G	TCGA-29-2434-01A-01D-1526-09	12508038	150769178	8369485	49	19764											
MLL3	58508	genome.wustl.edu	37	7	151846077	151846077	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr7:151846077G>T	ENST00000262189.6	-	52	13153	c.12935C>A	c.(12934-12936)gCt>gAt	p.A4312D	KMT2C_ENST00000355193.2_Missense_Mutation_p.A4369D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4312					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCTTCAAAAGCAGGAGGGAA	0.557																																																0			7											51	47	48					7																	151846077		2203	4300	6503	151477010	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12935C>A	7.37:g.151846077G>T	ENSP00000262189:p.Ala4312Asp		151477010	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.043345|3.043345	0.55003|0.55003	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.89343|.	-1.84;-1.82;-2.5|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.44285|.	U|.	0.000466|.	T|.	0.75436|.	0.3849|.	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.955;0.999;0.999|.	T|.	0.73534|.	-0.3952|.	10|.	0.32370|.	T|.	0.25|.	.|.	19.4364|19.4364	0.94798|0.94798	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4312;3430;4369|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	D|X	4312;4369;929|1872	ENSP00000262189:A4312D;ENSP00000347325:A4369D;ENSP00000410411:A929D|.	ENSP00000262189:A4312D|.	A|C	-|-	2|3	0|2	MLL3|MLL3	151477010|151477010	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.919000|0.919000	0.55068|0.55068	9.357000|9.357000	0.97099|0.97099	2.590000|2.590000	0.87494|0.87494	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.557	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151846077	G	T	151846077	3	4	360	1	0	0	0	0	1	0	0	0	9622	971	34	3	1832	3	MLL3	7	151846077	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	1076899	151846077	7292586	50	19765											
STAR	6770	genome.wustl.edu	37	8	38002755	38002755	+	Silent	SNP	G	G	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr8:38002755G>C	ENST00000276449.4	-	6	1175	c.729C>G	c.(727-729)ctC>ctG	p.L243L		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	243	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGTCGATGCTGAGTAGCCACG	0.557																																																0			8											130	106	114					8																	38002755		2203	4300	6503	38121912	SO:0001819	synonymous_variant	6770			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.729C>G	8.37:g.38002755G>C			38121912	Q16396	Silent	SNP	ENST00000276449.4	37	CCDS6102.1																																																																																				0.557	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		C	38002755	G	C	38002755	2	2	360	1	0	0	0	0	0	0	0	1	15256	1277	45	3		3	STAR	8	38002755	Silent	SNP	G	TCGA-29-2434-01A-01D-1526-09		38002755	108361267	51	19766											
TMC1	117531	genome.wustl.edu	37	9	75435908	75435908	+	Silent	SNP	C	C	T	rs370910801		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr9:75435908C>T	ENST00000297784.5	+	20	2454	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G	TMC1_ENST00000396237.3_Silent_p.G638G|TMC1_ENST00000340019.3_Silent_p.G638G|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	638					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTACCTGGGCATGCTACTGC	0.488																																					Pancreas(75;173 1345 14232 34245 43413)											0			9											254	214	228					9																	75435908		2203	4300	6503	74625728	SO:0001819	synonymous_variant	117531			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1914C>T	9.37:g.75435908C>T			74625728	A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	CCDS6643.1																																																																																				0.488	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			T	75435908	C	T	75435908	2	4	360	1	0	0	0	0	0	0	0	1	15984	697	25	2		2	TMC1	9	75435908	Silent	SNP	C	TCGA-29-2434-01A-01D-1526-09		75435908	65777523	52	19767											
VPS13A	23230	genome.wustl.edu	37	9	79981666	79981666	+	Silent	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr9:79981666T>C	ENST00000360280.3	+	61	8609	c.8349T>C	c.(8347-8349)agT>agC	p.S2783S	VPS13A_ENST00000376634.4_Silent_p.S2783S|VPS13A_ENST00000357409.5_Silent_p.S2783S|VPS13A_ENST00000376636.3_Silent_p.S2744S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2783					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCACTGAGTTCCGGCAGAG	0.299																																																0			9											47	48	48					9																	79981666		2203	4298	6501	79171486	SO:0001819	synonymous_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8349T>C	9.37:g.79981666T>C			79171486	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1																																																																																				0.299	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		C	79981666	T	C	79981666	2	2	360	1	0	0	0	0	0	0	0	1	17189	1722	60	4		4	VPS13A	9	79981666	Silent	SNP	T	TCGA-29-2434-01A-01D-1526-09	4545758	79981666	61231765	53	19768											
SLC2A8	29988	genome.wustl.edu	37	9	130165961	130165961	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr9:130165961G>A	ENST00000373371.3	+	6	835	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	SLC2A8_ENST00000373352.1_5'UTR|SLC2A8_ENST00000373360.3_Missense_Mutation_p.R249Q	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	249					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GCCCTGCTGCGGCAGCCCGGC	0.617																																																0			9											47	49	48					9																	130165961		2203	4300	6503	129205782	SO:0001583	missense	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.746G>A	9.37:g.130165961G>A	ENSP00000362469:p.Arg249Gln		129205782	Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572171	0.45798	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000419917;ENST00000373360;ENST00000423934;ENST00000373350;ENST00000430147	T;D;T;T;D;D	0.82803	0.02;-1.65;0.02;0.02;-1.65;-1.65	5.42	2.13	0.27403	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.250879	0.45867	N	0.000334	T	0.77329	0.4114	N	0.25825	0.765	0.31409	N	0.675761	P;D	0.64830	0.882;0.994	B;P	0.57009	0.398;0.811	T	0.73180	-0.4064	10	0.27785	T	0.31	.	4.7092	0.12865	0.2676:0.1826:0.5498:0.0	.	249;249	Q5VVV9;Q9NY64	.;GTR8_HUMAN	Q	249;86;180;249;114;114;88	ENSP00000362469:R249Q;ENSP00000392434:R86Q;ENSP00000411726:R180Q;ENSP00000362458:R249Q;ENSP00000389070:R114Q;ENSP00000391213:R88Q	ENSP00000362448:R114Q	R	+	2	0	SLC2A8	129205782	0.992000	0.36948	0.055000	0.19348	0.004000	0.04260	1.495000	0.35627	0.651000	0.30788	-0.176000	0.13171	CGG		0.617	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		A	130165961	G	A	130165961	3	1	360	1	0	0	0	0	1	0	0	0	14554	1116	39	1	768	1	SLC2A8	9	130165961	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	50184295	130165961	11047470	54	19769											
BAMBI	25805	genome.wustl.edu	37	10	28966845	28966845	+	Missense_Mutation	SNP	T	T	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr10:28966845T>A	ENST00000375533.3	+	1	575	c.19T>A	c.(19-21)Tac>Aac	p.Y7N		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	7					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CCACTCCAGCTACATCTTCAT	0.751																																																0			10											7	7	7					10																	28966845		2119	4145	6264	29006851	SO:0001583	missense	25805			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.19T>A	10.37:g.28966845T>A	ENSP00000364683:p.Tyr7Asn		29006851		Missense_Mutation	SNP	ENST00000375533.3	37	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.969695	0.74246	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	4.25	4.25	0.50352	.	0.196693	0.44097	D	0.000488	T	0.30008	0.0751	N	0.08118	0	0.36121	D	0.84547	P;P	0.38677	0.642;0.642	B;B	0.42163	0.266;0.378	T	0.42396	-0.9454	9	0.62326	D	0.03	.	8.1814	0.31313	0.0:0.0939:0.0:0.9061	.	7;7	Q13145;Q53G66	BAMBI_HUMAN;.	N	7	.	ENSP00000364683:Y7N	Y	+	1	0	BAMBI	29006851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.315000	0.43752	1.698000	0.51180	0.398000	0.26397	TAC		0.751	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		A	28966845	T	A	28966845	3	1	360	1	0	0	0	0	1	0	0	0	1306	1522	53	5	21	5	BAMBI	10	28966845	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09		28966845	106567902	55	19770											
LIPJ	142910	genome.wustl.edu	37	10	90356624	90356624	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr10:90356624G>C	ENST00000371939.3	+	8	968	c.654G>C	c.(652-654)caG>caC	p.Q218H		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	218					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GTCCACTACAGATTTTTGATA	0.279																																																0			10											70	81	77					10																	90356624		2203	4295	6498	90346604	SO:0001583	missense	142910			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.654G>C	10.37:g.90356624G>C	ENSP00000361007:p.Gln218His		90346604	A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635758	0.14386	.	.	ENSG00000204022	ENST00000371939	T	0.62105	0.05	4.12	-1.61	0.08399	Alpha/beta hydrolase fold-1 (1);	1.763170	0.03404	N	0.203790	T	0.48466	0.1501	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.21546	0.035	T	0.34800	-0.9814	10	0.45353	T	0.12	-34.7476	4.3062	0.10947	0.2603:0.0:0.4182:0.3215	.	218	Q5W064	LIPJ_HUMAN	H	218	ENSP00000361007:Q218H	ENSP00000361007:Q218H	Q	+	3	2	LIPJ	90346604	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.696000	0.05104	-0.085000	0.12573	-0.203000	0.12734	CAG		0.279	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		C	90356624	G	C	90356624	3	2	360	1	0	0	0	0	1	0	0	0	8826	933	33	3	676	3	LIPJ	10	90356624	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	61389779	90356624	45178123	56	19771											
NEURL	9148	genome.wustl.edu	37	10	105330710	105330710	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr10:105330710G>T	ENST00000369780.4	+	2	576	c.167G>T	c.(166-168)gGg>gTg	p.G56V	NEURL_ENST00000369777.2_Missense_Mutation_p.G39V	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		56					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGCCCAGCGGGGGGCTCCCA	0.647																																																0			10											80	91	87					10																	105330710		2203	4300	6503	105320700	SO:0001583	missense	9148																														ENST00000369780.4:c.167G>T	10.37:g.105330710G>T	ENSP00000358795:p.Gly56Val		105320700	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145503	0.37825	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777	.	.	.	4.7	4.7	0.59300	.	0.121219	0.56097	D	0.000038	T	0.56543	0.1992	N	0.14661	0.345	0.80722	D	1	D	0.64830	0.994	P	0.57720	0.826	T	0.58967	-0.7542	9	0.35671	T	0.21	-24.4824	17.8246	0.88661	0.0:0.0:1.0:0.0	.	56	O76050	NEU1A_HUMAN	V	56;39;39	.	ENSP00000358792:G39V	G	+	2	0	NEURL	105320700	1.000000	0.71417	0.970000	0.41538	0.051000	0.14879	2.755000	0.47540	2.417000	0.82017	0.561000	0.74099	GGG		0.647	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			T	105330710	G	T	105330710	3	4	360	1	0	0	0	0	1	0	0	0	10345	1232	43	3	173	3	NEURL	10	105330710	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	14974086	105330710	30204037	57	19772											
USH1C	10083	genome.wustl.edu	37	11	17531982	17531982	+	Intron	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr11:17531982C>T	ENST00000318024.4	-	15	1393				USH1C_ENST00000005226.7_Silent_p.Q500Q|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CAGAGGAAATCTGCTCGAGGC	0.517																																																0			11											62	55	57					11																	17531982		2200	4293	6493	17488558	SO:0001627	intron_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+6965G>A	11.37:g.17531982C>T			17488558	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	CCDS31438.1																																																																																				0.517	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		T	17531982	C	T	17531982	1	4	360	0	1	0	0	0	0	0	0	0	17034	912	32	2		2	USH1C	11	17531982	Intron	SNP	C	TCGA-29-2434-01A-01D-1526-09		17531982	117474534	58	19773											
OR5A1	219982	genome.wustl.edu	37	11	59211212	59211212	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr11:59211212T>C	ENST00000302030.2	+	1	596	c.571T>C	c.(571-573)Tct>Cct	p.S191P		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCTGGCTCTGTCTTGCTCTGA	0.517																																																0			11											224	220	221					11																	59211212		2201	4295	6496	58967788	SO:0001583	missense	219982			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.571T>C	11.37:g.59211212T>C	ENSP00000303096:p.Ser191Pro		58967788	B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078841	0.55753	.	.	ENSG00000172320	ENST00000302030	T	0.00301	8.21	5.98	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.254138	0.28230	N	0.016111	T	0.00967	0.0032	H	0.97682	4.055	0.26714	N	0.970919	D	0.76494	0.999	D	0.72982	0.979	T	0.28870	-1.0030	10	0.72032	D	0.01	-16.3378	7.8549	0.29476	0.0:0.0682:0.2589:0.6729	.	191	Q8NGJ0	OR5A1_HUMAN	P	191	ENSP00000303096:S191P	ENSP00000303096:S191P	S	+	1	0	OR5A1	58967788	0.000000	0.05858	0.328000	0.25416	0.929000	0.56500	-0.715000	0.04997	0.119000	0.18210	-0.323000	0.08544	TCT		0.517	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		C	59211212	T	C	59211212	3	2	360	1	0	0	0	0	1	0	0	0	11139	1667	58	4	573	4	OR5A1	11	59211212	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09	41679230	59211212	75795304	59	19774											
OR4D9	390199	genome.wustl.edu	37	11	59282611	59282611	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr11:59282611A>G	ENST00000329328.3	+	1	226	c.226A>G	c.(226-228)Atc>Gtc	p.I76V		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTTTTCCTCCATCACAGCTCC	0.468																																																0			11											168	160	163					11																	59282611		2201	4295	6496	59039187	SO:0001583	missense	390199			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.226A>G	11.37:g.59282611A>G	ENSP00000328563:p.Ile76Val		59039187	Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	A	0.110	-1.139395	0.01728	.	.	ENSG00000172742	ENST00000329328	T	0.00375	7.71	4.02	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	U	0.001032	T	0.00073	0.0002	N	0.00514	-1.41	0.19300	N	0.999977	B	0.09022	0.002	B	0.10450	0.005	T	0.41787	-0.9489	10	0.02654	T	1	.	2.1034	0.03685	0.5837:0.1639:0.0942:0.1582	.	76	Q8NGE8	OR4D9_HUMAN	V	76	ENSP00000328563:I76V	ENSP00000328563:I76V	I	+	1	0	OR4D9	59039187	0.000000	0.05858	0.976000	0.42696	0.876000	0.50452	0.462000	0.21956	0.066000	0.16515	0.379000	0.24179	ATC		0.468	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		G	59282611	A	G	59282611	3	3	360	1	0	0	0	0	1	0	0	0	11059	217	8	4	228	4	OR4D9	11	59282611	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	71399	59282611	75723905	60	19775											
MRE11A	4361	genome.wustl.edu	37	11	94192749	94192749	+	Splice_Site	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr11:94192749T>C	ENST00000323929.3	-	13	1549		c.e13-2		MRE11A_ENST00000407439.3_Splice_Site|MRE11A_ENST00000323977.3_Splice_Site|MRE11A_ENST00000393241.4_Splice_Site	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)						base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTGCACATTCTGTAAGATACA	0.353								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																							0			11											120	111	114					11																	94192749		2201	4298	6499	93832397	SO:0001630	splice_region_variant	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1327-2A>G	11.37:g.94192749T>C			93832397	O43475	Splice_Site	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113064	0.56398	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.125	0.81386	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRE11A	93832397	1.000000	0.71417	0.928000	0.36995	0.486000	0.33341	7.975000	0.88055	2.213000	0.71641	0.397000	0.26171	.		0.353	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	Intron	C	94192749	T	C	94192749	5	2	360	1	0	0	0	0	0	0	1	0	9759	1594	55	4	833	4	MRE11A	11	94192749	Splice_Site	SNP	T	TCGA-29-2434-01A-01D-1526-09	34910138	94192749	40813767	61	19776											
MMP3	4314	genome.wustl.edu	37	11	102714195	102714195	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr11:102714195T>C	ENST00000299855.5	-	1	339	c.83A>G	c.(82-84)gAc>gGc	p.D28G		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	28					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	CATGCTGGTGTCCTCACCCCT	0.483																																																0			11											155	125	135					11																	102714195		2203	4299	6502	102219405	SO:0001583	missense	4314			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.83A>G	11.37:g.102714195T>C	ENSP00000299855:p.Asp28Gly		102219405	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.385973	0.25031	.	.	ENSG00000149968	ENST00000299855	T	0.13307	2.6	5.07	2.61	0.31194	Metallopeptidase, catalytic domain (1);	0.954956	0.08540	N	0.930628	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.32188	-0.9916	10	0.42905	T	0.14	.	6.2832	0.21019	0.0:0.0883:0.1609:0.7508	.	28	P08254	MMP3_HUMAN	G	28	ENSP00000299855:D28G	ENSP00000299855:D28G	D	-	2	0	MMP3	102219405	0.003000	0.15002	0.010000	0.14722	0.006000	0.05464	0.660000	0.25009	1.061000	0.40601	0.528000	0.53228	GAC		0.483	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		C	102714195	T	C	102714195	3	2	360	1	0	0	0	0	1	0	0	0	9666	1667	58	4	1390	4	MMP3	11	102714195	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09	8521446	102714195	32292321	62	19777											
SLC2A14	144195	genome.wustl.edu	37	12	7984221	7984221	+	Missense_Mutation	SNP	A	A	G	rs113584214		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr12:7984221A>G	ENST00000543909.1	-	9	1079	c.320T>C	c.(319-321)cTc>cCc	p.L107P	SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.L122P|SLC2A14_ENST00000431042.2_Missense_Mutation_p.L84P|SLC2A14_ENST00000340749.5_Missense_Mutation_p.L84P|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L107P			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	107					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTTAACAAAGAGTCCGACGGA	0.542											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			12											89	83	85					12																	7984221		2203	4300	6503	7875488	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.320T>C	12.37:g.7984221A>G	ENSP00000440480:p.Leu107Pro	645	7875488	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039599	0.55003	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916	T;T;T;T;T;T;T;T;T;T;D	0.84146	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-1.81	3.6	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.445356	0.24242	N	0.040255	T	0.77425	0.4128	L	0.37850	1.14	0.80722	D	1	B;B;B	0.24368	0.102;0.036;0.001	B;B;B	0.27076	0.076;0.031;0.006	T	0.71276	-0.4641	10	0.27082	T	0.32	.	10.4041	0.44246	1.0:0.0:0.0:0.0	.	122;84;107	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	P	84;107;84;107;122;84;84;84;107;107;84	ENSP00000340450:L84P;ENSP00000440480:L107P;ENSP00000407287:L84P;ENSP00000379834:L107P;ENSP00000445929:L122P;ENSP00000440043:L84P;ENSP00000438312:L84P;ENSP00000443217:L84P;ENSP00000440044:L107P;ENSP00000437653:L107P;ENSP00000442402:L84P	ENSP00000340450:L84P	L	-	2	0	SLC2A14	7875488	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.168000	0.58216	1.391000	0.46566	0.477000	0.44152	CTC		0.542	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		G	7984221	A	G	7984221	3	3	360	1	0	0	0	0	1	0	0	0	14546	304	11	4	1274	4	SLC2A14	12	7984221	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09		7984221	125867674	63	19778											
PLEKHA5	54477	genome.wustl.edu	37	12	19436473	19436473	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr12:19436473C>A	ENST00000299275.6	+	11	1561	c.1555C>A	c.(1555-1557)Cct>Act	p.P519T	PLEKHA5_ENST00000317589.4_Missense_Mutation_p.P519T|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.P519T|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.P411T|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.P525T|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.P519T|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.P411T|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.P519T|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.P277T|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.P519T	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	519					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GAGCACCCTCCCTCGACACAG	0.498																																					Pancreas(196;329 2193 11246 14234 19524)											0			12											122	121	121					12																	19436473		2203	4300	6503	19327740	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1555C>A	12.37:g.19436473C>A	ENSP00000299275:p.Pro519Thr		19327740	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764529	0.31228	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	3.99	3.99	0.46301	.	0.599803	0.17714	N	0.164494	T	0.07999	0.0200	N	0.11698	0.16	0.28736	N	0.902216	B;B;B;B;B;B;B	0.22146	0.013;0.003;0.007;0.065;0.028;0.002;0.004	B;B;B;B;B;B;B	0.17979	0.02;0.015;0.007;0.01;0.01;0.003;0.007	T	0.14504	-1.0470	10	0.30078	T	0.28	-8.0191	11.7675	0.51939	0.2225:0.7775:0.0:0.0	.	519;411;411;525;525;519;519	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	T	519;519;519;526;519;525;519;277;519;411;411;411	ENSP00000325155:P519T;ENSP00000347560:P519T;ENSP00000352104:P519T;ENSP00000311239:P519T;ENSP00000404296:P525T;ENSP00000299275:P519T;ENSP00000440611:P277T;ENSP00000439673:P519T;ENSP00000400411:P411T;ENSP00000439837:P411T;ENSP00000440371:P411T	ENSP00000299275:P519T	P	+	1	0	PLEKHA5	19327740	0.113000	0.22115	1.000000	0.80357	0.963000	0.63663	1.020000	0.30027	2.214000	0.71695	0.655000	0.94253	CCT		0.498	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		A	19436473	C	A	19436473	3	1	360	1	0	0	0	0	1	0	0	0	12059	623	22	3	1597	3	PLEKHA5	12	19436473	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	11452252	19436473	114415422	64	19779											
IL26	55801	genome.wustl.edu	37	12	68619501	68619501	+	Silent	SNP	C	C	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr12:68619501C>A	ENST00000229134.4	-	1	100	c.36G>T	c.(34-36)ctG>ctT	p.L12L	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	12					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GAGTGACTAACAGCAACCCAC	0.483																																																0			12											275	237	250					12																	68619501		2203	4300	6503	66905768	SO:0001819	synonymous_variant	55801			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.36G>T	12.37:g.68619501C>A			66905768		Silent	SNP	ENST00000229134.4	37	CCDS8981.1																																																																																				0.483	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		A	68619501	C	A	68619501	2	1	360	1	0	0	0	0	0	0	0	1	7679	465	17	3		3	IL26	12	68619501	Silent	SNP	C	TCGA-29-2434-01A-01D-1526-09	49183028	68619501	65232394	65	19780											
NOC4L	79050	genome.wustl.edu	37	12	132632456	132632456	+	Missense_Mutation	SNP	C	C	T	rs141988623		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr12:132632456C>T	ENST00000330579.1	+	6	676	c.635C>T	c.(634-636)aCg>aTg	p.T212M	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	212					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AATGCCTTCACGCTGCTGTCT	0.687																																																0			12							MET/THR	1,4379		0,1,2189	26	28	27		635	3.3	0.4	12	dbSNP_134	27	0,8590		0,0,4295	no	missense	NOC4L	NM_024078.1	81	0,1,6484	TT,TC,CC		0.0,0.0228,0.0077	benign	212/517	132632456	1,12969	2190	4295	6485	131198409	SO:0001583	missense	79050				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.635C>T	12.37:g.132632456C>T	ENSP00000328854:p.Thr212Met		131198409	Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	c	6.761	0.509321	0.12883	2.28E-4	0.0	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.65732	-0.17;1.54	5.09	3.28	0.37604	.	0.453783	0.24597	N	0.037173	T	0.52693	0.1750	M	0.69823	2.125	0.80722	D	1	P	0.36412	0.552	B	0.24541	0.054	T	0.51616	-0.8683	10	0.51188	T	0.08	-15.3472	7.851	0.29455	0.0:0.8093:0.0:0.1907	.	212	Q9BVI4	NOC4L_HUMAN	M	212;179	ENSP00000328854:T212M;ENSP00000438255:T179M	ENSP00000328854:T212M	T	+	2	0	NOC4L	131198409	0.857000	0.29778	0.407000	0.26434	0.027000	0.11550	2.049000	0.41288	0.554000	0.29061	-0.198000	0.12761	ACG		0.687	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		T	132632456	C	T	132632456	3	4	360	1	0	0	0	0	1	0	0	0	10515	536	19	1	657	1	NOC4L	12	132632456	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	64012955	132632456	1219439	66	19781											
EBPL	84650	genome.wustl.edu	37	13	50235197	50235197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr13:50235197C>T	ENST00000242827.6	-	4	578	c.528G>A	c.(526-528)tgG>tgA	p.W176*	EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	176					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GGATCAGAACCCACACACCGT	0.473																																					NSCLC(39;857 1083 36109 42364 51411)											0			13											66	63	64					13																	50235197		2203	4300	6503	49133198	SO:0001587	stop_gained	84650			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.528G>A	13.37:g.50235197C>T	ENSP00000242827:p.Trp176*		49133198	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Nonsense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415027	0.83449	.	.	ENSG00000123179	ENST00000242827	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1318	18.7789	0.91924	0.0:1.0:0.0:0.0	.	.	.	.	X	176	.	ENSP00000242827:W176X	W	-	3	0	EBPL	49133198	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.448000	0.73469	2.814000	0.96858	0.650000	0.86243	TGG		0.473	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		T	50235197	C	T	50235197	4	4	360	1	0	0	0	0	0	1	0	0	4887	624	22	2	96	2	EBPL	13	50235197	Nonsense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09		50235197	64934681	67	19782											
ATP11A	23250	genome.wustl.edu	37	13	113536171	113536171	+	3'UTR	SNP	C	C	G	rs376903583		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr13:113536171C>G	ENST00000487903.1	+	0	3547				ATP11A_ENST00000375645.3_Intron|ATP11A_ENST00000375630.2_Silent_p.T1123T			P98196	AT11A_HUMAN	ATPase, class VI, type 11A						phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAGAATTCACCCCTCTTGCCT	0.637																																																0			13											92	90	91					13																	113536171		2203	4300	6503	112584172	SO:0001624	3_prime_UTR_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.*54C>G	13.37:g.113536171C>G			112584172	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1																																																																																				0.637	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		G	113536171	C	G	113536171	1	3	360	0	1	0	0	0	0	0	0	0	1119	610	22	3		3	ATP11A	13	113536171	3'UTR	SNP	C	TCGA-29-2434-01A-01D-1526-09	63300974	113536171	1633707	68	19783											
SEC23A	10484	genome.wustl.edu	37	14	39561751	39561751	+	Silent	SNP	T	T	C	rs376431559		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr14:39561751T>C	ENST00000307712.6	-	4	877	c.360A>G	c.(358-360)gtA>gtG	p.V120V	SEC23A_ENST00000536508.1_5'UTR|SEC23A_ENST00000545328.2_Intron	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	120					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTACCAGAACTACATATTCAA	0.289																																																0			14											26	26	26					14																	39561751		2202	4285	6487	38631502	SO:0001819	synonymous_variant	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.360A>G	14.37:g.39561751T>C			38631502	B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	CCDS9668.1																																																																																				0.289	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			C	39561751	T	C	39561751	2	2	360	1	0	0	0	0	0	0	0	1	13994	1509	53	4		4	SEC23A	14	39561751	Silent	SNP	T	TCGA-29-2434-01A-01D-1526-09		39561751	67787789	69	19784											
BMP4	652	genome.wustl.edu	37	14	54416767	54416767	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr14:54416767C>G	ENST00000245451.4	-	4	1603	c.1210G>C	c.(1210-1212)Gga>Cga	p.G404R	BMP4_ENST00000417573.1_Missense_Mutation_p.G404R|BMP4_ENST00000558984.1_Missense_Mutation_p.G404R|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000559087.1_Missense_Mutation_p.G404R	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	404					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CACCCACATCCCTCTACTACC	0.493																																																0			14											123	102	109					14																	54416767		2203	4300	6503	53486517	SO:0001583	missense	652			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.1210G>C	14.37:g.54416767C>G	ENSP00000245451:p.Gly404Arg		53486517	Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792725	0.70452	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.63096	-0.02;-0.02	5.4	5.4	0.78164	Transforming growth factor-beta, C-terminal (3);	0.098661	0.64402	D	0.000001	T	0.76140	0.3946	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.77482	-0.2571	10	0.87932	D	0	.	16.7038	0.85366	0.0:1.0:0.0:0.0	.	404	P12644	BMP4_HUMAN	R	404	ENSP00000245451:G404R;ENSP00000394165:G404R	ENSP00000245451:G404R	G	-	1	0	BMP4	53486517	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.644000	0.83416	2.813000	0.96785	0.561000	0.74099	GGA		0.493	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		G	54416767	C	G	54416767	3	3	360	1	0	0	0	0	1	0	0	0	1462	632	22	3	20	3	BMP4	14	54416767	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	14855016	54416767	52932773	70	19785											
FLVCR2	55640	genome.wustl.edu	37	14	76108239	76108239	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr14:76108239A>T	ENST00000238667.4	+	9	1863	c.1507A>T	c.(1507-1509)Aac>Tac	p.N503Y	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.N218Y|FLVCR2_ENST00000539311.1_Missense_Mutation_p.N298Y|FLVCR2_ENST00000556241.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	503					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		AACTCTTGAGAACGTGAGTAT	0.463																																																0			14											126	120	122					14																	76108239		2203	4300	6503	75177992	SO:0001583	missense	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1507A>T	14.37:g.76108239A>T	ENSP00000238667:p.Asn503Tyr		75177992	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.877417	0.33162	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000554580;ENST00000555027	D;D;D;D	0.88818	-1.95;-2.02;-2.43;-2.38	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);	0.250060	0.36815	N	0.002383	D	0.83013	0.5162	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.33448	0.412;0.412	B;B	0.31614	0.133;0.133	D	0.83435	0.0040	10	0.56958	D	0.05	-16.5197	14.2135	0.65779	1.0:0.0:0.0:0.0	.	298;503	B7Z485;Q9UPI3	.;FLVC2_HUMAN	Y	503;298;203;218	ENSP00000238667:N503Y;ENSP00000443439:N298Y;ENSP00000451781:N203Y;ENSP00000452453:N218Y	ENSP00000238667:N503Y	N	+	1	0	AC007182.1	75177992	0.986000	0.35501	0.683000	0.30040	0.391000	0.30476	2.993000	0.49425	2.233000	0.73108	0.533000	0.62120	AAC		0.463	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		T	76108239	A	T	76108239	3	4	360	1	0	0	0	0	1	0	0	0	5946	246	9	5	1541	5	FLVCR2	14	76108239	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	21691472	76108239	31241301	71	19786											
NRXN3	9369	genome.wustl.edu	37	14	79270070	79270070	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr14:79270070G>A	ENST00000554719.1	+	6	1524	c.1033G>A	c.(1033-1035)Gct>Act	p.A345T	NRXN3_ENST00000335750.5_Missense_Mutation_p.A345T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	122					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCCCAGCGAGCTTATGGGCT	0.547																																																0			14											183	134	150					14																	79270070		2203	4300	6503	78339823	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1033G>A	14.37:g.79270070G>A	ENSP00000451648:p.Ala345Thr		78339823	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618143	0.96649	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78364	-1.17;-1.17	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89076	0.6612	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.804	D;B	0.91635	0.999;0.418	D	0.87318	0.2316	8	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	718;345	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	T	718;716;345;345	ENSP00000451648:A345T;ENSP00000338349:A345T	.	A	+	1	0	NRXN3	78339823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.547	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		A	79270070	G	A	79270070	3	1	360	1	0	0	0	0	1	0	0	0	10667	971	34	2	1047	2	NRXN3	14	79270070	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	3161831	79270070	28079470	72	19787											
EML1	2009	genome.wustl.edu	37	14	100402380	100402380	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr14:100402380G>A	ENST00000262233.6	+	18	2063	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	EML1_ENST00000334192.4_Missense_Mutation_p.A661T|EML1_ENST00000327921.9_Missense_Mutation_p.A630T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	642	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GAATTTCTTAGCCATAGGCTC	0.428																																																0			14											94	93	94					14																	100402380		2203	4300	6503	99472133	SO:0001583	missense	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1924G>A	14.37:g.100402380G>A	ENSP00000262233:p.Ala642Thr		99472133	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040678	0.93685	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.70282	-0.47;-0.47;-0.47	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90655	0.7069	H	0.98577	4.27	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.85130	0.997;0.896;0.997	D	0.94140	0.7396	10	0.66056	D	0.02	-29.3981	17.709	0.88316	0.0:0.0:1.0:0.0	.	630;642;661	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	T	630;642;661;661	ENSP00000327384:A630T;ENSP00000262233:A642T;ENSP00000334314:A661T	ENSP00000262233:A642T	A	+	1	0	EML1	99472133	1.000000	0.71417	0.974000	0.42286	0.871000	0.50021	9.675000	0.98638	2.429000	0.82318	0.561000	0.74099	GCC		0.428	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		A	100402380	G	A	100402380	3	1	360	1	0	0	0	0	1	0	0	0	5096	971	34	2	2055	2	EML1	14	100402380	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	21132310	100402380	6947160	73	19788											
CDCA4	55038	genome.wustl.edu	37	14	105477757	105477757	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr14:105477757C>G	ENST00000336219.3	-	2	665	c.510G>C	c.(508-510)gaG>gaC	p.E170D	CDCA4_ENST00000392590.3_Missense_Mutation_p.E170D	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	170						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GGTTTTTAGTCTCCAGCGTTT	0.547																																																0			14											88	85	86					14																	105477757		2203	4300	6503	104548802	SO:0001583	missense	55038			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"hematopoietic progenitor protein"	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.510G>C	14.37:g.105477757C>G	ENSP00000337226:p.Glu170Asp		104548802	Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520497	0.27211	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.47528	0.84;0.84	4.62	-1.77	0.07982	.	0.052389	0.85682	D	0.000000	T	0.35770	0.0943	M	0.62723	1.935	0.40205	D	0.977567	B	0.26445	0.149	B	0.20384	0.029	T	0.06570	-1.0819	10	0.42905	T	0.14	-2.35	5.6732	0.17733	0.0:0.3296:0.4058:0.2646	.	170	Q9BXL8	CDCA4_HUMAN	D	170	ENSP00000337226:E170D;ENSP00000376369:E170D	ENSP00000337226:E170D	E	-	3	2	CDCA4	104548802	0.626000	0.27120	0.106000	0.21319	0.577000	0.36160	0.502000	0.22594	-0.169000	0.10834	0.650000	0.86243	GAG		0.547	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		G	105477757	C	G	105477757	3	3	360	1	0	0	0	0	1	0	0	0	3088	912	32	3	219	3	CDCA4	14	105477757	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	5075377	105477757	1871783	74	19789											
C15orf2	23742	genome.wustl.edu	37	15	24922533	24922533	+	Missense_Mutation	SNP	T	T	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr15:24922533T>A	ENST00000329468.2	+	1	1993	c.1519T>A	c.(1519-1521)Ttc>Atc	p.F507I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	507	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CACACCCTCCTTCAAGCCTCC	0.542																																																0			15											178	191	186					15																	24922533		2203	4300	6503	22473626	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1519T>A	15.37:g.24922533T>A	ENSP00000333735:p.Phe507Ile		22473626		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.314514	0.23908	.	.	ENSG00000185823	ENST00000329468	T	0.12465	2.68	1.72	1.72	0.24424	.	1.525930	0.04380	N	0.360618	T	0.10252	0.0251	L	0.39898	1.24	0.09310	N	1	P	0.44659	0.84	B	0.34489	0.184	T	0.29274	-1.0017	10	0.30078	T	0.28	.	5.4775	0.16704	0.0:0.0:0.0:1.0	.	507	Q9NZP6	CO002_HUMAN	I	507	ENSP00000333735:F507I	ENSP00000333735:F507I	F	+	1	0	C15orf2	22473626	0.007000	0.16637	0.016000	0.15963	0.079000	0.17450	0.200000	0.17257	1.047000	0.40274	0.172000	0.16884	TTC		0.542	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24922533	T	A	24922533	3	1	360	1	0	0	0	0	1	0	0	0	1784	1609	56	5	1521	5	C15orf2	15	24922533	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09		24922533	77608859	75	19790											
PKD1	5310	genome.wustl.edu	37	16	2158972	2158972	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr16:2158972G>C	ENST00000262304.4	-	15	6404	c.6196C>G	c.(6196-6198)Ctg>Gtg	p.L2066V	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.L2066V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2066	PKD 17. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGCTCTGCAGGGCCACATAC	0.687																																																0			16											14	15	15					16																	2158972		2166	4278	6444	2098973	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6196C>G	16.37:g.2158972G>C	ENSP00000262304:p.Leu2066Val		2098973	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	12.27	1.886324	0.33348	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000382481	T;T	0.68331	-0.32;-0.32	5.49	5.49	0.81192	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (1);	0.000000	0.64402	D	0.000001	D	0.84042	0.5385	M	0.83118	2.625	0.41878	D	0.990307	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85902	0.1435	10	0.66056	D	0.02	.	19.4518	0.94871	0.0:0.0:1.0:0.0	.	2066;2066	P98161-3;P98161	.;PKD1_HUMAN	V	2066;2066;345	ENSP00000262304:L2066V;ENSP00000399501:L2066V	ENSP00000262304:L2066V	L	-	1	2	PKD1	2098973	1.000000	0.71417	0.250000	0.24296	0.033000	0.12548	4.110000	0.57831	2.597000	0.87782	0.544000	0.68410	CTG		0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			C	2158972	G	C	2158972	3	2	360	1	0	0	0	0	1	0	0	0	11963	991	35	3	6843	3	PKD1	16	2158972	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09		2158972	88195781	76	19791											
ADCY9	115	genome.wustl.edu	37	16	4016940	4016940	+	Silent	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr16:4016940C>T	ENST00000294016.3	-	11	3436	c.2898G>A	c.(2896-2898)tcG>tcA	p.S966S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	966					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CACGCGGCACCGAACTATTGC	0.597																																																0			16											41	47	45					16																	4016940		2190	4294	6484	3956941	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2898G>A	16.37:g.4016940C>T			3956941	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																				0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			T	4016940	C	T	4016940	2	4	360	1	0	0	0	0	0	0	0	1	301	639	23	1		1	ADCY9	16	4016940	Silent	SNP	C	TCGA-29-2434-01A-01D-1526-09	1857968	4016940	86337813	77	19792											
PPL	5493	genome.wustl.edu	37	16	4940815	4940815	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr16:4940815C>G	ENST00000345988.2	-	17	2165	c.2076G>C	c.(2074-2076)gaG>gaC	p.E692D	PPL_ENST00000590782.2_Missense_Mutation_p.E690D	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	692					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCGGACAGTGCTCCTGGAAGC	0.652																																																0			16											14	14	14					16																	4940815		2187	4293	6480	4880816	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2076G>C	16.37:g.4940815C>G	ENSP00000340510:p.Glu692Asp		4880816	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631134	0.67015	.	.	ENSG00000118898	ENST00000345988	T	0.21543	2.0	5.35	4.41	0.53225	.	0.060805	0.64402	D	0.000004	T	0.24275	0.0588	M	0.71581	2.175	0.48975	D	0.999738	P	0.34562	0.457	B	0.27608	0.081	T	0.09952	-1.0651	10	0.72032	D	0.01	.	14.2499	0.66013	0.0:0.9288:0.0:0.0712	.	692	O60437	PEPL_HUMAN	D	692	ENSP00000340510:E692D	ENSP00000340510:E692D	E	-	3	2	PPL	4880816	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.910000	0.56371	1.500000	0.48636	-0.151000	0.13558	GAG		0.652	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		G	4940815	C	G	4940815	3	3	360	1	0	0	0	0	1	0	0	0	12337	796	28	3	3218	3	PPL	16	4940815	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	923875	4940815	85413938	78	19793											
C16orf72	29035	genome.wustl.edu	37	16	9210587	9210587	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr16:9210587G>T	ENST00000327827.7	+	4	1043	c.646G>T	c.(646-648)Gta>Tta	p.V216L		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	216										endometrium(4)|large_intestine(2)|lung(2)	8						TCCTACACATGTAAGCAGTGG	0.438																																																0			16											189	176	181					16																	9210587		2197	4300	6497	9118088	SO:0001583	missense	29035			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.646G>T	16.37:g.9210587G>T	ENSP00000331720:p.Val216Leu		9118088		Missense_Mutation	SNP	ENST00000327827.7	37	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232237	0.39498	.	.	ENSG00000182831	ENST00000327827	T	0.41758	0.99	5.55	5.55	0.83447	.	0.065614	0.64402	D	0.000012	T	0.42086	0.1187	N	0.12182	0.205	0.80722	D	1	D	0.54601	0.967	P	0.55391	0.775	T	0.25257	-1.0137	10	0.27082	T	0.32	-0.0551	19.8696	0.96845	0.0:0.0:1.0:0.0	.	216	Q14CZ0	CP072_HUMAN	L	216	ENSP00000331720:V216L	ENSP00000331720:V216L	V	+	1	0	C16orf72	9118088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.773000	0.95371	0.585000	0.79938	GTA		0.438	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		T	9210587	G	T	9210587	3	4	360	1	0	0	0	0	1	0	0	0	1831	1377	48	3	660	3	C16orf72	16	9210587	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	4269772	9210587	81144166	79	19794											
ADCY7	113	genome.wustl.edu	37	16	50349009	50349009	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr16:50349009C>T	ENST00000394697.2	+	25	3396	c.3056C>T	c.(3055-3057)gCc>gTc	p.A1019V	ADCY7_ENST00000254235.3_Missense_Mutation_p.A1019V			P51828	ADCY7_HUMAN	adenylate cyclase 7	1019	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GTCAATGTGGCCAGCCGAATG	0.493																																																0			16											109	111	110					16																	50349009		2198	4300	6498	48906510	SO:0001583	missense	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.3056C>T	16.37:g.50349009C>T	ENSP00000378187:p.Ala1019Val		48906510	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064497	0.93898	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.66638	-0.22;-0.22	5.33	4.35	0.52113	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.44097	U	0.000489	D	0.90130	0.6916	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94728	0.7907	10	0.87932	D	0	.	15.9081	0.79447	0.0:0.8646:0.1354:0.0	.	1019	P51828	ADCY7_HUMAN	V	1019	ENSP00000378187:A1019V;ENSP00000254235:A1019V	ENSP00000254235:A1019V	A	+	2	0	ADCY7	48906510	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.651000	0.83577	1.420000	0.47138	0.561000	0.74099	GCC		0.493	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			T	50349009	C	T	50349009	3	4	360	1	0	0	0	0	1	0	0	0	299	739	26	2	3150	2	ADCY7	16	50349009	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	41138422	50349009	40005744	80	19795											
NOD2	64127	genome.wustl.edu	37	16	50759443	50759443	+	Missense_Mutation	SNP	G	G	A	rs148561632		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr16:50759443G>A	ENST00000300589.2	+	10	3031	c.2926G>A	c.(2926-2928)Gca>Aca	p.A976T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	976					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATGTTCTCTCGCAGAAGGACT	0.423																																																0			16						G	THR/ALA	0,4396		0,0,2198	94	93	93		2926	4.9	0.2	16	dbSNP_134	93	3,8597	3.0+/-9.4	0,3,4297	no	missense	NOD2	NM_022162.1	58	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	976/1041	50759443	3,12993	2198	4300	6498	49316944	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2926G>A	16.37:g.50759443G>A	ENSP00000300589:p.Ala976Thr		49316944	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638430	0.47153	0.0	3.49E-4	ENSG00000167207	ENST00000526417;ENST00000300589;ENST00000431240	T	0.56776	0.44	5.82	4.87	0.63330	.	0.202787	0.34802	N	0.003672	T	0.54679	0.1873	M	0.85630	2.765	0.09310	N	1	B	0.34226	0.443	B	0.30029	0.11	T	0.58126	-0.7691	10	0.66056	D	0.02	.	10.7534	0.46221	0.0874:0.0:0.9126:0.0	.	976	Q9HC29	NOD2_HUMAN	T	949;976;116	ENSP00000300589:A976T	ENSP00000300589:A976T	A	+	1	0	NOD2	49316944	0.211000	0.23529	0.208000	0.23602	0.790000	0.44656	2.072000	0.41510	1.458000	0.47871	0.655000	0.94253	GCA		0.423	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		A	50759443	G	A	50759443	3	1	360	1	0	0	0	0	1	0	0	0	10517	1087	38	1	2964	1	NOD2	16	50759443	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	410434	50759443	39595310	81	19796											
FTO	79068	genome.wustl.edu	37	16	53859939	53859939	+	Missense_Mutation	SNP	G	G	T	rs139577103		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr16:53859939G>T	ENST00000471389.1	+	3	509	c.287G>T	c.(286-288)cGc>cTc	p.R96L	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	96	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCGGTATCTCGCATCCTCATT	0.498																																																0			16											97	86	90					16																	53859939		2198	4300	6498	52417440	SO:0001583	missense	79068			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.287G>T	16.37:g.53859939G>T	ENSP00000418823:p.Arg96Leu		52417440	A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333505	0.95758	.	.	ENSG00000140718	ENST00000471389	D	0.85861	-2.04	5.46	5.46	0.80206	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92718	0.7685	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93263	0.6645	10	0.87932	D	0	-12.4496	19.3039	0.94153	0.0:0.0:1.0:0.0	.	96	Q9C0B1	FTO_HUMAN	L	96	ENSP00000418823:R96L	ENSP00000418823:R96L	R	+	2	0	FTO	52417440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.782000	0.91809	2.562000	0.86427	0.650000	0.86243	CGC		0.498	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		T	53859939	G	T	53859939	3	4	360	1	0	0	0	0	1	0	0	0	6086	1087	38	3	297	3	FTO	16	53859939	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	3100496	53859939	36494814	82	19797											
COG4	25839	genome.wustl.edu	37	16	70530318	70530318	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr16:70530318T>C	ENST00000323786.5	-	12	1519	c.1498A>G	c.(1498-1500)Aag>Gag	p.K500E		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	496					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ATCCGCAGCTTATTACACAGA	0.562																																																0			16											83	69	74					16																	70530318		2198	4300	6498	69087819	SO:0001583	missense	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1498A>G	16.37:g.70530318T>C	ENSP00000315775:p.Lys500Glu		69087819	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726601	0.89298	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.53640	0.61	6.04	6.04	0.98038	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.83223	2.63	0.80722	D	1	P;P;P	0.51791	0.948;0.623;0.9	P;B;P	0.49887	0.625;0.372;0.472	T	0.68157	-0.5483	10	0.54805	T	0.06	-25.8571	16.5763	0.84648	0.0:0.0:0.0:1.0	.	406;495;496	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	E	500;496;158	ENSP00000315775:K500E	ENSP00000315775:K500E	K	-	1	0	COG4	69087819	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.846000	0.86887	2.317000	0.78254	0.459000	0.35465	AAG		0.562	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			C	70530318	T	C	70530318	3	2	360	1	0	0	0	0	1	0	0	0	3660	1763	61	4	903	4	COG4	16	70530318	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09	16670379	70530318	19824435	83	19798											
EIF4A1	1973	genome.wustl.edu	37	17	7481744	7481744	+	Silent	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr17:7481744T>C	ENST00000293831.8	+	11	1177	c.1161T>C	c.(1159-1161)atT>atC	p.I387I	EIF4A1_ENST00000577269.1_3'UTR|EIF4A1_ENST00000582746.1_3'UTR|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	387	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TTCGAGACATTGAGACCTTCT	0.522																																					Melanoma(120;278 1668 15796 27423 46368)											0			17											111	102	105					17																	7481744		2203	4300	6503	7422468	SO:0001819	synonymous_variant	1973			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1161T>C	17.37:g.7481744T>C			7422468	B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Silent	SNP	ENST00000293831.8	37	CCDS11113.1																																																																																				0.522	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		C	7481744	T	C	7481744	2	2	360	1	0	0	0	0	0	0	0	1	5024	1800	63	4		4	EIF4A1	17	7481744	Silent	SNP	T	TCGA-29-2434-01A-01D-1526-09		7481744	73713466	84	19799											
TP53	7157	genome.wustl.edu	37	17	7577095	7577095	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr17:7577095G>C	ENST00000269305.4	-	8	1032	c.843C>G	c.(841-843)gaC>gaG	p.D281E	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D281E|TP53_ENST00000455263.2_Missense_Mutation_p.D281E|TP53_ENST00000445888.2_Missense_Mutation_p.D281E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.D281E	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281E(28)|p.R282W(10)|p.0?(8)|p.D281D(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CTGTGCGCCGGTCTCTCCCAG	0.557		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"	72	Substitution - Missense(39)|Deletion - In frame(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - Frameshift(1)|Insertion - In frame(1)	skin(12)|upper_aerodigestive_tract(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|breast(6)|lung(5)|central_nervous_system(4)|bone(4)|urinary_tract(3)|oesophagus(3)|liver(3)|stomach(2)|endometrium(2)|large_intestine(1)|vulva(1)|genital_tract(1)|pancreas(1)|prostate(1)	17											82	70	74					17																	7577095		2203	4300	6503	7517820	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.843C>G	17.37:g.7577095G>C	ENSP00000269305:p.Asp281Glu		7517820	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	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105939	0.77096	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	4.99	0.696	0.18075	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	0.99832	0.9924	M	0.92649	3.33	0.53005	D	0.999961	D;D;D;P	0.71674	0.993;0.998;0.995;0.916	D;D;D;D	0.91635	0.965;0.999;0.951;0.943	D	0.98567	1.0644	10	0.87932	D	0	-25.6697	7.6418	0.28298	0.4422:0.0:0.5578:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	281;281;281;281;281;270;149	ENSP00000352610:D281E;ENSP00000269305:D281E;ENSP00000398846:D281E;ENSP00000391127:D281E;ENSP00000391478:D281E;ENSP00000425104:D149E	ENSP00000269305:D281E	D	-	3	2	TP53	7517820	1.000000	0.71417	0.915000	0.36163	0.964000	0.63967	1.949000	0.40313	0.286000	0.22352	0.462000	0.41574	GAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577095	G	C	7577095	3	2	360	1	0	0	0	0	1	0	0	0	16381	1252	44	3	443	3	TP53	17	7577095	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	95351	7577095	73618115	85	19800											
PIK3R5	23533	genome.wustl.edu	37	17	8794203	8794203	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr17:8794203T>C	ENST00000447110.1	-	7	633	c.509A>G	c.(508-510)gAa>gGa	p.E170G	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E170G|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E170G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	170					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCTGCACTTCCACTGGGTT	0.657																																					NSCLC(18;589 615 7696 20311 50332)											0			17											122	89	100					17																	8794203		2203	4300	6503	8734928	SO:0001583	missense	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.509A>G	17.37:g.8794203T>C	ENSP00000392812:p.Glu170Gly		8734928	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.994353	0.35226	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.79749	-1.3	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.84894	0.0838	10	0.48119	T	0.1	-26.4854	14.786	0.69803	0.0:0.0:0.0:1.0	.	170	Q8WYR1	PI3R5_HUMAN	G	170	ENSP00000392812:E170G	ENSP00000269300:E170G	E	-	2	0	PIK3R5	8734928	1.000000	0.71417	0.996000	0.52242	0.345000	0.29048	5.887000	0.69751	1.969000	0.57287	0.454000	0.30748	GAA		0.657	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		C	8794203	T	C	8794203	3	2	360	1	0	0	0	0	1	0	0	0	11922	1783	62	4	2185	4	PIK3R5	17	8794203	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09	1217108	8794203	72401007	86	19801											
SLFN5	162394	genome.wustl.edu	37	17	33586531	33586531	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr17:33586531A>G	ENST00000299977.4	+	2	970	c.822A>G	c.(820-822)atA>atG	p.I274M	SLFN5_ENST00000542451.1_Missense_Mutation_p.I274M|SLFN5_ENST00000592325.1_Missense_Mutation_p.I274M	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	274					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGCCTGAGATAAAATATGTCC	0.448																																																0			17											131	133	132					17																	33586531		2203	4300	6503	30610644	SO:0001583	missense	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.822A>G	17.37:g.33586531A>G	ENSP00000299977:p.Ile274Met		30610644	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100889	0.37048	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.36878	1.23;1.23	3.68	-5.1	0.02911	.	1.021180	0.07889	N	0.970830	T	0.48768	0.1518	M	0.74467	2.265	0.09310	N	1	P;P;D	0.89917	0.664;0.664;1.0	B;B;D	0.76575	0.283;0.189;0.988	T	0.50180	-0.8858	10	0.87932	D	0	.	1.0854	0.01651	0.243:0.155:0.3729:0.2292	.	274;274;274	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	M	274	ENSP00000299977:I274M;ENSP00000440537:I274M	ENSP00000299977:I274M	I	+	3	3	SLFN5	30610644	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.344000	0.00249	-0.711000	0.04995	-0.256000	0.11100	ATA		0.448	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		G	33586531	A	G	33586531	3	3	360	1	0	0	0	0	1	0	0	0	14740	352	13	4	824	4	SLFN5	17	33586531	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	24792328	33586531	47608679	87	19802											
UBTF	7343	genome.wustl.edu	37	17	42287494	42287494	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr17:42287494C>T	ENST00000302904.4	-	15	2116	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	UBTF_ENST00000533177.1_Missense_Mutation_p.E505K|UBTF_ENST00000526094.1_Missense_Mutation_p.E505K|UBTF_ENST00000436088.1_Missense_Mutation_p.E542K|UBTF_ENST00000343638.5_Missense_Mutation_p.E505K|UBTF_ENST00000393606.3_Missense_Mutation_p.E505K|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.E505K|UBTF_ENST00000529383.1_Missense_Mutation_p.E542K			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	542					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATTCCTACCTCATATCGCTTT	0.512											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			17											151	158	156					17																	42287494		2203	4300	6503	39643020	SO:0001583	missense	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1624G>A	17.37:g.42287494C>T	ENSP00000302640:p.Glu542Lys	907	39643020	A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626297	0.66901	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	D;D;D;D;D;D;D;D;T	0.98437	-4.91;-4.13;-4.93;-4.91;-4.13;-4.91;-4.91;-4.13;1.68	5.3	4.32	0.51571	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	L	0.32530	0.975	0.80722	D	1	D;P;P	0.53745	0.962;0.873;0.944	P;B;P	0.52514	0.534;0.385;0.701	D	0.95359	0.8454	10	0.22706	T	0.39	-31.6668	14.8218	0.70080	0.0:0.8546:0.1454:0.0	.	505;505;542	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	K	505;542;505;505;542;505;505;542;129	ENSP00000345297:E505K;ENSP00000302640:E542K;ENSP00000431539:E505K;ENSP00000437180:E505K;ENSP00000390669:E542K;ENSP00000377231:E505K;ENSP00000432925:E505K;ENSP00000435708:E542K;ENSP00000431295:E129K	ENSP00000302640:E542K	E	-	1	0	UBTF	39643020	1.000000	0.71417	0.917000	0.36280	0.023000	0.10783	7.733000	0.84916	1.212000	0.43366	-0.499000	0.04595	GAG		0.512	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		T	42287494	C	T	42287494	3	4	360	1	0	0	0	0	1	0	0	0	16909	835	29	2	698	2	UBTF	17	42287494	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	8700963	42287494	38907716	88	19803											
RNF138	51444	genome.wustl.edu	37	18	29709119	29709119	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr18:29709119C>T	ENST00000261593.3	+	8	1165	c.707C>T	c.(706-708)gCt>gTt	p.A236V	RNF138_ENST00000257190.5_Missense_Mutation_p.A142V	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	236					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TACCAAACTGCTGTTGAAGAA	0.368																																																0			18											149	145	147					18																	29709119		2203	4300	6503	27963117	SO:0001583	missense	51444			AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"RING-type (C3HC4) zinc fingers"	17765	protein-coding gene	gene with protein product	"nemo-like kinase associated ring finger protein"		"ring finger protein 138"			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.707C>T	18.37:g.29709119C>T	ENSP00000261593:p.Ala236Val		27963117	B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658312	0.67586	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D	0.89270	-2.49	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.92685	0.7675	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	D	0.89280	0.3611	10	0.16896	T	0.51	0.4523	19.4797	0.95005	0.0:1.0:0.0:0.0	.	142;236	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	V	236;142	ENSP00000261593:A236V	ENSP00000257190:A142V	A	+	2	0	RNF138	27963117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.841000	0.62824	2.684000	0.91462	0.650000	0.86243	GCT		0.368	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		T	29709119	C	T	29709119	3	4	360	1	0	0	0	0	1	0	0	0	13444	797	28	2	733	2	RNF138	18	29709119	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09		29709119	48368129	89	19804											
BCAM	4059	genome.wustl.edu	37	19	45317433	45317433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr19:45317433G>A	ENST00000270233.6	+	7	831	c.809G>A	c.(808-810)tGg>tAg	p.W270*	BCAM_ENST00000589651.1_Nonsense_Mutation_p.W270*	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	270					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTGCAGTTCTGGGTGGGCAGC	0.652																																																0			19											85	77	80					19																	45317433		2202	4300	6502	50009273	SO:0001587	stop_gained	4059			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.809G>A	19.37:g.45317433G>A	ENSP00000270233:p.Trp270*		50009273	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Nonsense_Mutation	SNP	ENST00000270233.6	37	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.959890	0.74016	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.0398	12.2859	0.54791	0.0:0.0:1.0:0.0	.	.	.	.	X	270	.	ENSP00000270233:W270X	W	+	2	0	BCAM	50009273	1.000000	0.71417	0.993000	0.49108	0.294000	0.27393	1.460000	0.35244	2.159000	0.67721	0.462000	0.41574	TGG		0.652	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		A	45317433	G	A	45317433	4	1	360	1	0	0	0	0	0	1	0	0	1344	1357	47	2	835	2	BCAM	19	45317433	Nonsense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09		45317433	13811550	90	19805											
SYNGR4	23546	genome.wustl.edu	37	19	48878980	48878980	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr19:48878980G>T	ENST00000344846.2	+	4	692	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	SYNGR4_ENST00000601610.1_Missense_Mutation_p.A99S|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	148	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GGCAGCCATCGCCTTCACCTT	0.602																																																0			19											95	84	88					19																	48878980		2203	4300	6503	53570792	SO:0001583	missense	23546			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.442G>T	19.37:g.48878980G>T	ENSP00000344041:p.Ala148Ser		53570792	Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121047	0.37436	.	.	ENSG00000105467	ENST00000344846	T	0.33216	1.42	4.53	-9.06	0.00727	Marvel (1);MARVEL-like domain (1);	0.649699	0.16953	N	0.192798	T	0.25121	0.0610	L	0.45470	1.425	0.25903	N	0.983336	B	0.28880	0.226	B	0.34489	0.184	T	0.11567	-1.0582	10	0.62326	D	0.03	-7.7214	15.543	0.76070	0.1267:0.0:0.7771:0.0962	.	148	O95473	SNG4_HUMAN	S	148	ENSP00000344041:A148S	ENSP00000344041:A148S	A	+	1	0	SYNGR4	53570792	0.002000	0.14202	0.369000	0.25952	0.702000	0.40608	-1.137000	0.03219	-2.078000	0.00872	-0.263000	0.10527	GCC		0.602	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			T	48878980	G	T	48878980	3	4	360	1	0	0	0	0	1	0	0	0	15451	1087	38	3	452	3	SYNGR4	19	48878980	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	3561547	48878980	10250003	91	19806											
FPR1	2357	genome.wustl.edu	37	19	52250020	52250020	+	Silent	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr19:52250020G>A	ENST00000595042.1	-	3	369	c.228C>T	c.(226-228)tcC>tcT	p.S76S	FPR1_ENST00000304748.4_Silent_p.S76S	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	76					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	ATGGCAAAGTGGAGGTGAAAC	0.522																																																0			19											142	110	121					19																	52250020		2203	4300	6503	56941832	SO:0001819	synonymous_variant	2357			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.228C>T	19.37:g.52250020G>A			56941832	Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	CCDS12839.1																																																																																				0.522	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		A	52250020	G	A	52250020	2	1	360	1	0	0	0	0	0	0	0	1	6038	1335	47	2		2	FPR1	19	52250020	Silent	SNP	G	TCGA-29-2434-01A-01D-1526-09	3371040	52250020	6878963	92	19807											
TFPT	29844	genome.wustl.edu	37	19	54617895	54617895	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr19:54617895C>T	ENST00000391759.1	-	2	614	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	TFPT_ENST00000391758.1_Missense_Mutation_p.R61Q|PRPF31_ENST00000419967.1_5'Flank|TFPT_ENST00000391757.1_Missense_Mutation_p.R70Q|PRPF31_ENST00000321030.4_5'Flank	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	70					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					GCGCCGCCGCCGACCCCGGGC	0.642			T	TCF3	pre-B ALL																																		Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0			19											57	68	64					19																	54617895		2203	4299	6502	59309707	SO:0001583	missense	29844			AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"INO80 complex subunits"	13630	protein-coding gene	gene with protein product	"amida, partner of the E2A", "INO80 complex subunit F"	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.209G>A	19.37:g.54617895C>T	ENSP00000375639:p.Arg70Gln		59309707		Missense_Mutation	SNP	ENST00000391759.1	37	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431033	0.43122	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	4.95	2.78	0.32641	.	0.362010	0.22816	N	0.055294	T	0.23014	0.0556	N	0.22421	0.69	0.23445	N	0.997664	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.23302	T	0.38	-6.7852	4.363	0.11211	0.176:0.6244:0.0:0.1996	.	70	P0C1Z6	TFPT_HUMAN	Q	70;61;70	.	ENSP00000375637:R70Q	R	-	2	0	TFPT	59309707	0.836000	0.29430	0.868000	0.34077	0.990000	0.78478	0.665000	0.25083	0.564000	0.29238	0.563000	0.77884	CGG		0.642	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		T	54617895	C	T	54617895	3	4	360	1	0	0	0	0	1	0	0	0	15810	652	23	1	572	1	TFPT	19	54617895	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	2367875	54617895	4511088	93	19808											
CNOT3	4849	genome.wustl.edu	37	19	54655965	54655965	+	Silent	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr19:54655965C>T	ENST00000406403.1	+	13	3211	c.1608C>T	c.(1606-1608)gcC>gcT	p.A536A	CNOT3_ENST00000221232.5_Silent_p.A536A|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000358389.3_Silent_p.A355A			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	536	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCCCCAGGCCCCTGAGCCTC	0.637																																																0			19											40	41	41					19																	54655965		2203	4300	6503	59347777	SO:0001819	synonymous_variant	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1608C>T	19.37:g.54655965C>T			59347777	Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941538	0.34283	.	.	ENSG00000088038	ENST00000457463	.	.	.	4.49	3.42	0.39159	.	.	.	.	.	T	0.48259	0.1490	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43442	-0.9391	4	.	.	.	-25.188	4.769	0.13146	0.1855:0.6324:0.0:0.1821	.	.	.	.	S	68	.	.	P	+	1	0	CNOT3	59347777	0.011000	0.17503	0.999000	0.59377	0.967000	0.64934	-1.329000	0.02677	2.199000	0.70637	0.655000	0.94253	CCC		0.637	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		T	54655965	C	T	54655965	2	4	360	1	0	0	0	0	0	0	0	1	3620	610	22	2		2	CNOT3	19	54655965	Silent	SNP	C	TCGA-29-2434-01A-01D-1526-09	38070	54655965	4473018	94	19809											
C20orf26	26074	genome.wustl.edu	37	20	20177351	20177351	+	Silent	SNP	G	G	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr20:20177351G>A	ENST00000245957.5	+	16	1804	c.1728G>A	c.(1726-1728)aaG>aaA	p.K576K	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		576										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTTTCTGAAGGAGATCCTGC	0.473																																																0			20											133	121	125					20																	20177351		2203	4300	6503	20125351	SO:0001819	synonymous_variant	26074																														ENST00000245957.5:c.1728G>A	20.37:g.20177351G>A			20125351	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293694	0.23564	.	.	ENSG00000089101	ENST00000431753	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.64994	0.2649	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62895	-0.6757	4	.	.	.	.	12.7766	0.57453	0.0751:0.0:0.9249:0.0	.	.	.	.	K	116	.	.	R	+	2	0	C20orf26	20125351	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.366000	0.34193	2.595000	0.87683	0.561000	0.74099	AGG		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			A	20177351	G	A	20177351	2	1	360	1	0	0	0	0	0	0	0	1	2106	991	35	2		2	C20orf26	20	20177351	Silent	SNP	G	TCGA-29-2434-01A-01D-1526-09		20177351	42848169	95	19810											
CEP250	11190	genome.wustl.edu	37	20	34090440	34090440	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr20:34090440C>G	ENST00000397527.1	+	30	4963	c.4243C>G	c.(4243-4245)Caa>Gaa	p.Q1415E	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1359E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1415	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAGGTGGCCCAAGGGAAGGC	0.562																																																0			20											40	47	44					20																	34090440		2203	4300	6503	33553854	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4243C>G	20.37:g.34090440C>G	ENSP00000380661:p.Gln1415Glu		33553854	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	9.528	1.110013	0.20714	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10382	2.9;2.88	4.33	4.33	0.51752	.	0.360742	0.23889	N	0.043565	T	0.13200	0.0320	M	0.70595	2.14	0.23249	N	0.998047	B	0.18461	0.028	B	0.18561	0.022	T	0.21449	-1.0245	10	0.13853	T	0.58	.	12.5252	0.56083	0.0:1.0:0.0:0.0	.	1415	Q9BV73	CP250_HUMAN	E	1415;1359	ENSP00000380661:Q1415E;ENSP00000341541:Q1359E	ENSP00000341541:Q1359E	Q	+	1	0	CEP250	33553854	0.000000	0.05858	0.963000	0.40424	0.840000	0.47671	0.219000	0.17641	2.420000	0.82092	0.561000	0.74099	CAA		0.562	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		G	34090440	C	G	34090440	3	3	360	1	0	0	0	0	1	0	0	0	3252	595	21	3	4349	3	CEP250	20	34090440	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	13913089	34090440	28935080	96	19811											
GNAS	2778	genome.wustl.edu	37	20	57415359	57415359	+	Silent	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr20:57415359C>T	ENST00000313949.7	+	1	587	c.198C>T	c.(196-198)aaC>aaT	p.N66N	GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.N66N|GNAS_ENST00000371098.2_Silent_p.N66N			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCCTTAACGCCCACCACC	0.682			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0			20											35	42	39					20																	57415359		2203	4299	6502	56848754	SO:0001819	synonymous_variant	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.198C>T	20.37:g.57415359C>T			56848754	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	CCDS13471.1																																																																																				0.682	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		T	57415359	C	T	57415359	2	4	360	1	0	0	0	0	0	0	0	1	6510	535	19	1		1	GNAS	20	57415359	Silent	SNP	C	TCGA-29-2434-01A-01D-1526-09	23324919	57415359	5610161	97	19812											
SYCP2	10388	genome.wustl.edu	37	20	58452580	58452580	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr20:58452580C>A	ENST00000357552.3	-	33	3235	c.3010G>T	c.(3010-3012)Gac>Tac	p.D1004Y	SYCP2_ENST00000371001.2_Missense_Mutation_p.D1004Y			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1004					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTGTCTTGTCCATCTTTTTT	0.318																																																0			20											73	74	74					20																	58452580		2201	4295	6496	57885975	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3010G>T	20.37:g.58452580C>A	ENSP00000350162:p.Asp1004Tyr		57885975	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	2.224	-0.377781	0.05000	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.22539	2.24;2.24;1.95	5.8	0.232	0.15381	.	0.657537	0.15135	N	0.278587	T	0.08758	0.0217	N	0.11201	0.11	0.09310	N	1	B	0.20261	0.043	B	0.23018	0.043	T	0.25882	-1.0119	10	0.38643	T	0.18	-0.8937	2.1816	0.03876	0.1508:0.4129:0.2747:0.1616	.	1004	Q9BX26	SYCP2_HUMAN	Y	1004	ENSP00000360040:D1004Y;ENSP00000350162:D1004Y;ENSP00000402456:D1004Y	ENSP00000350162:D1004Y	D	-	1	0	SYCP2	57885975	0.004000	0.15560	0.000000	0.03702	0.032000	0.12392	0.184000	0.16939	-0.161000	0.10983	0.491000	0.48974	GAC		0.318	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		A	58452580	C	A	58452580	3	1	360	1	0	0	0	0	1	0	0	0	15432	855	30	3	1634	3	SYCP2	20	58452580	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	1037221	58452580	4572940	98	19813											
LAMA5	3911	genome.wustl.edu	37	20	60913525	60913525	+	Splice_Site	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr20:60913525C>G	ENST00000252999.3	-	12	1683	c.1617G>C	c.(1615-1617)caG>caC	p.Q539H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	539	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGACTCACGCTGGCAGCCGG	0.652																																																0			20											38	38	38					20																	60913525		2200	4296	6496	60346920	SO:0001630	splice_region_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1618+1G>C	20.37:g.60913525C>G			60346920	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808130	0.31961	.	.	ENSG00000130702	ENST00000252999	T	0.20598	2.06	5.59	2.51	0.30379	EGF-like, laminin (2);	0.267324	0.37715	N	0.001976	T	0.18002	0.0432	L	0.42744	1.35	0.80722	D	1	B	0.21688	0.059	B	0.23419	0.046	T	0.04413	-1.0953	10	0.37606	T	0.19	.	10.539	0.45022	0.0:0.6705:0.2604:0.0691	.	539	O15230	LAMA5_HUMAN	H	539	ENSP00000252999:Q539H	ENSP00000252999:Q539H	Q	-	3	2	LAMA5	60346920	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	1.329000	0.33770	0.267000	0.21916	0.561000	0.74099	CAG		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	Missense_Mutation	G	60913525	C	G	60913525	5	3	360	1	0	0	0	0	0	0	1	0	8609	811	28	3	9746	3	LAMA5	20	60913525	Splice_Site	SNP	C	TCGA-29-2434-01A-01D-1526-09	2460945	60913525	2111995	99	19814											
C21orf7	56911	genome.wustl.edu	37	21	30521518	30521518	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr21:30521518C>T	ENST00000399947.2	+	7	656	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.P27S|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.P27S|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.P27S|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.P27S|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.P127S|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.P21S|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.P27S|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.P27S	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	127						cytosol (GO:0005829)|nucleus (GO:0005634)											AGATGATACACCCCCTGAAGA	0.408																																																0			21											168	158	162					21																	30521518		2203	4300	6503	29443389	SO:0001583	missense	56911			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.379C>T	21.37:g.30521518C>T	ENSP00000382828:p.Pro127Ser		29443389	D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	C	6.899	0.535435	0.13188	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925;ENST00000451489	T;T	0.45276	0.9;0.9	4.49	3.59	0.41128	.	0.280270	0.31589	N	0.007396	T	0.23370	0.0565	N	0.14661	0.345	0.27525	N	0.95128	B;P	0.45715	0.007;0.865	B;B	0.43478	0.007;0.421	T	0.05903	-1.0857	10	0.15952	T	0.53	-10.0206	6.6377	0.22891	0.0:0.554:0.3016:0.1444	.	27;127	B0EVZ8;P57077	.;TAK1L_HUMAN	S	21;127;27;27;127;27;27;27;27;27	ENSP00000343212:P127S;ENSP00000382828:P127S	ENSP00000345777:P27S	P	+	1	0	C21orf7	29443389	0.248000	0.23930	0.974000	0.42286	0.935000	0.57460	0.496000	0.22499	1.459000	0.47892	0.655000	0.94253	CCC		0.408	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		T	30521518	C	T	30521518	3	4	360	1	0	0	0	0	1	0	0	0	2132	507	18	2	397	2	C21orf7	21	30521518	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09		30521518	17608377	100	19815											
BRWD1	54014	genome.wustl.edu	37	21	40584593	40584593	+	Splice_Site	SNP	C	C	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr21:40584593C>A	ENST00000333229.2	-	34	4226	c.3899G>T	c.(3898-3900)aGa>aTa	p.R1300I	BRWD1_ENST00000342449.3_Splice_Site_p.R1300I|BRWD1_ENST00000380800.3_Splice_Site_p.R1300I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1300					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GTAACTTACTCTCCTCCTTCC	0.299																																					Melanoma(170;988 1986 4794 16843 39731)											0			21											75	80	78					21																	40584593		2203	4295	6498	39506463	SO:0001630	splice_region_variant	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3900+1G>T	21.37:g.40584593C>A			39506463	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.42|15.42	2.829583|2.829583	0.50845|0.50845	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.57107	.|0.42;0.44;0.51	5.47|5.47	3.61|3.61	0.41365|0.41365	.|Bromodomain (1);	.|0.158163	.|0.43416	.|D	.|0.000576	T|T	0.42404|0.42404	0.1201|0.1201	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.44578	.|0.534;0.666;0.838	.|B;B;B	.|0.35813	.|0.211;0.168;0.205	T|T	0.43426|0.43426	-0.9392|-0.9392	5|10	.|0.51188	.|T	.|0.08	-3.3032|-3.3032	8.1615|8.1615	0.31201|0.31201	0.0:0.8168:0.0:0.1832|0.0:0.8168:0.0:0.1832	.|.	.|1300;1300;1300	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	D|I	285|1300;1300;1300;304	.|ENSP00000330753:R1300I;ENSP00000344333:R1300I;ENSP00000370178:R1300I	.|ENSP00000330753:R1300I	E|R	-|-	3|2	2|0	BRWD1|BRWD1	39506463|39506463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	0.927000|0.927000	0.28818|0.28818	1.414000|1.414000	0.47017|0.47017	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.299	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	Missense_Mutation	A	40584593	C	A	40584593	5	1	360	1	0	0	0	0	0	0	1	0	1525	927	32	3	3338	3	BRWD1	21	40584593	Splice_Site	SNP	C	TCGA-29-2434-01A-01D-1526-09	10063075	40584593	7545302	101	19816											
POFUT2	23275	genome.wustl.edu	37	21	46707753	46707753	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr21:46707753C>G	ENST00000349485.5	-	1	60	c.34G>C	c.(34-36)Ggg>Cgg	p.G12R	POFUT2_ENST00000331343.7_Missense_Mutation_p.G12R|BX322557.10_ENST00000454115.2_RNA	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	12					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GACACTGCCCCCAGCAGCAGG	0.726																																																0			21											6	7	7					21																	46707753		2056	4052	6108	45532181	SO:0001583	missense	23275			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.34G>C	21.37:g.46707753C>G	ENSP00000339613:p.Gly12Arg		45532181	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	C	5.225	0.227095	0.09916	.	.	ENSG00000186866	ENST00000331343;ENST00000349485	.	.	.	2.98	-3.54	0.04653	.	2.785850	0.01630	N	0.023502	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	P;B;B	0.40476	0.718;0.263;0.01	B;B;B	0.31245	0.126;0.048;0.018	T	0.12604	-1.0541	9	0.23891	T	0.37	-0.9406	7.4461	0.27211	0.6333:0.2227:0.144:0.0	.	12;12;12	B4DH78;Q9Y2G5-1;Q9Y2G5	.;.;OFUT2_HUMAN	R	12	.	ENSP00000329682:G12R	G	-	1	0	POFUT2	45532181	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.511000	0.02260	-0.811000	0.04369	-0.271000	0.10264	GGG		0.726	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		G	46707753	C	G	46707753	3	3	360	1	0	0	0	0	1	0	0	0	12184	623	22	3	1430	3	POFUT2	21	46707753	Missense_Mutation	SNP	C	TCGA-29-2434-01A-01D-1526-09	6123160	46707753	1422142	102	19817											
AIFM3	150209	genome.wustl.edu	37	22	21330564	21330564	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr22:21330564T>C	ENST00000399167.2	+	10	1108	c.868T>C	c.(868-870)Tac>Cac	p.Y290H	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Missense_Mutation_p.Y296H|AIFM3_ENST00000440238.2_Missense_Mutation_p.Y290H|AIFM3_ENST00000335375.5_Missense_Mutation_p.Y278H|AIFM3_ENST00000399163.2_Missense_Mutation_p.Y290H|AIFM3_ENST00000333607.6_Missense_Mutation_p.Y290H	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	290					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAAGCTGGAGTACAGCAAGCT	0.607																																																0			22											104	87	93					22																	21330564		2203	4300	6503	19660564	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.868T>C	22.37:g.21330564T>C	ENSP00000382120:p.Tyr290His		19660564	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121152	0.77436	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	4.15	4.15	0.48705	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	H	0.97940	4.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0	D	0.86705	0.1932	10	0.87932	D	0	.	11.4545	0.50173	0.0:0.0:0.0:1.0	.	278;278;296;290;290	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	H	290;290;296;278;290;290	ENSP00000382120:Y290H;ENSP00000382116:Y290H;ENSP00000385800:Y296H;ENSP00000335369:Y278H;ENSP00000390798:Y290H;ENSP00000327671:Y290H	ENSP00000327671:Y290H	Y	+	1	0	AIFM3	19660564	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.396000	0.59684	1.879000	0.54435	0.459000	0.35465	TAC		0.607	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		C	21330564	T	C	21330564	3	2	360	1	0	0	0	0	1	0	0	0	428	1638	57	4	920	4	AIFM3	22	21330564	Missense_Mutation	SNP	T	TCGA-29-2434-01A-01D-1526-09		21330564	29974002	103	19818											
SUSD2	56241	genome.wustl.edu	37	22	24582233	24582233	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chr22:24582233A>C	ENST00000358321.3	+	10	1753	c.1492A>C	c.(1492-1494)Acc>Ccc	p.T498P		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	498	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGGCACGGAGACCCGTGGCAC	0.662																																																0			22											56	48	51					22																	24582233		2202	4300	6502	22912233	SO:0001583	missense	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1492A>C	22.37:g.24582233A>C	ENSP00000351075:p.Thr498Pro		22912233	Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.897594	0.52121	.	.	ENSG00000099994	ENST00000358321	T	0.61510	0.1	5.05	-0.159	0.13379	von Willebrand factor, type D domain (3);	0.419844	0.26485	N	0.024103	T	0.33147	0.0853	N	0.20986	0.625	0.09310	N	1	P	0.39601	0.68	B	0.35859	0.212	T	0.17137	-1.0379	10	0.35671	T	0.21	-8.2895	4.5718	0.12214	0.4734:0.1634:0.3632:0.0	.	498	Q9UGT4	SUSD2_HUMAN	P	498	ENSP00000351075:T498P	ENSP00000351075:T498P	T	+	1	0	SUSD2	22912233	0.011000	0.17503	0.001000	0.08648	0.007000	0.05969	1.344000	0.33941	-0.143000	0.11334	0.454000	0.30748	ACC		0.662	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		C	24582233	A	C	24582233	3	2	360	1	0	0	0	0	1	0	0	0	15408	275	10	5	1530	5	SUSD2	22	24582233	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	3251669	24582233	26722333	104	19819											
DLG3	1741	genome.wustl.edu	37	X	69670154	69670154	+	Splice_Site	SNP	C	C	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chrX:69670154C>T	ENST00000374360.3	+	5	1072	c.839C>T	c.(838-840)gCg>gTg	p.A280V	DLG3-AS1_ENST00000431103.1_RNA|DLG3-AS1_ENST00000424211.1_RNA|RNU4-81P_ENST00000363561.1_RNA|DLG3_ENST00000194900.4_Splice_Site_p.A298V|DLG3_ENST00000374355.3_5'Flank	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	280	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CGGCTGCTGGCGGTGAGACAG	0.567																																																0			X											25	21	22					X																	69670154		2197	4267	6464	69586879	SO:0001630	splice_region_variant	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.840+1C>T	X.37:g.69670154C>T			69586879	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951971	0.73787	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.30182	1.54;1.54	4.48	4.48	0.54585	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.91561	3.22	0.80722	D	1	P	0.45594	0.862	B	0.37601	0.254	T	0.60767	-0.7198	9	.	.	.	.	15.3401	0.74290	0.0:1.0:0.0:0.0	.	280	Q92796	DLG3_HUMAN	V	298;280	ENSP00000194900:A298V;ENSP00000363480:A280V	.	A	+	2	0	DLG3	69586879	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.228000	0.78079	2.067000	0.61834	0.436000	0.28706	GCG		0.567	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120	Missense_Mutation	T	69670154	C	T	69670154	5	4	360	1	0	0	0	0	0	0	1	0	4556	782	27	1	857	1	DLG3	23	69670154	Splice_Site	SNP	C	TCGA-29-2434-01A-01D-1526-09		69670154	85600406	105	19820											
DIAPH2	1730	genome.wustl.edu	37	X	96204031	96204031	+	Missense_Mutation	SNP	G	G	T	rs200944548		TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chrX:96204031G>T	ENST00000324765.8	+	15	1954	c.1607G>T	c.(1606-1608)cGa>cTa	p.R536L	DIAPH2_ENST00000355827.4_Missense_Mutation_p.R536L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R536L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R536L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R532L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	536					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CAGCAACTTCGAACCCAGGTA	0.368																																																0			X											60	55	57					X																	96204031		2203	4300	6503	96090687	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1607G>T	X.37:g.96204031G>T	ENSP00000321348:p.Arg536Leu		96090687	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244056	0.39697	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.22336	2.98;1.96;2.98;2.98;2.98	4.9	3.1	0.35709	.	0.294571	0.28600	N	0.014770	T	0.25938	0.0632	L	0.52206	1.635	0.35723	D	0.817287	D;P	0.56287	0.975;0.946	P;P	0.50659	0.647;0.597	T	0.19582	-1.0301	10	0.48119	T	0.1	.	8.5496	0.33444	0.2539:0.0:0.7461:0.0	.	536;536	O60879;O60879-2	DIAP2_HUMAN;.	L	536;532;536;536;536;543	ENSP00000362152:R536L;ENSP00000362145:R532L;ENSP00000348082:R536L;ENSP00000362140:R536L;ENSP00000321348:R536L	ENSP00000321348:R536L	R	+	2	0	DIAPH2	96090687	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.380000	0.59581	0.322000	0.23283	0.538000	0.68166	CGA		0.368	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		T	96204031	G	T	96204031	3	4	360	1	0	0	0	0	1	0	0	0	4519	1058	37	3	1665	3	DIAPH2	23	96204031	Missense_Mutation	SNP	G	TCGA-29-2434-01A-01D-1526-09	26533877	96204031	59066529	106	19821											
SLC6A8	6535	genome.wustl.edu	37	X	152958573	152958573	+	Silent	SNP	C	C	A			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chrX:152958573C>A	ENST00000253122.5	+	5	1331	c.855C>A	c.(853-855)gcC>gcA	p.A285A	SLC6A8_ENST00000430077.2_Silent_p.A170A|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	285				A -> P (in Ref. 1; AAC41688). {ECO:0000305}.	cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGCCTGGCGCCCTGGATGGCA	0.632																																																0			X											72	54	60					X																	152958573		2203	4299	6502	152611767	SO:0001819	synonymous_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.855C>A	X.37:g.152958573C>A			152611767	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	c	5.678	0.309592	0.10733	.	.	ENSG00000130821	ENST00000413787	T	0.77489	-1.1	4.88	0.671	0.17929	.	.	.	.	.	T	0.76314	0.3970	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.72050	-0.4407	6	0.87932	D	0	.	3.1426	0.06461	0.3357:0.2906:0.0:0.3737	.	.	.	.	H	22	ENSP00000400463:P22H	ENSP00000400463:P22H	P	+	2	0	SLC6A8	152611767	0.000000	0.05858	0.055000	0.19348	0.703000	0.40648	-1.627000	0.02033	0.131000	0.18576	0.468000	0.43344	CCC		0.632	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			A	152958573	C	A	152958573	2	1	360	1	0	0	0	0	0	0	0	1	14693	610	22	3		3	SLC6A8	23	152958573	Silent	SNP	C	TCGA-29-2434-01A-01D-1526-09	56754542	152958573	2311987	107	19822											
PLXNA3	55558	genome.wustl.edu	37	X	153689044	153689044	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2434-01A-01D-1526-09	TCGA-29-2434-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	271336aa-136d-4bcf-b597-60310d444925	dc6a0714-4edc-497f-a832-7d6e2414ddf1	g.chrX:153689044A>T	ENST00000369682.3	+	2	696	c.521A>T	c.(520-522)aAg>aTg	p.K174M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	174	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCGACGGCAAGTCGGAGTAC	0.607																																																0			X											69	73	72					X																	153689044		2202	4296	6498	153342238	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.521A>T	X.37:g.153689044A>T	ENSP00000358696:p.Lys174Met		153342238	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966850	0.53507	.	.	ENSG00000130827	ENST00000369682	T	0.04654	3.58	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	M	0.87758	2.905	0.50632	D	0.99988	D	0.58268	0.982	D	0.64776	0.929	T	0.00411	-1.1756	10	0.72032	D	0.01	.	7.8076	0.29211	0.9005:0.0:0.0995:0.0	.	174	P51805	PLXA3_HUMAN	M	174	ENSP00000358696:K174M	ENSP00000358696:K174M	K	+	2	0	PLXNA3	153342238	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	4.348000	0.59379	1.882000	0.54519	0.383000	0.25322	AAG		0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		T	153689044	A	T	153689044	3	4	360	1	0	0	0	0	1	0	0	0	12121	72	3	5	523	5	PLXNA3	23	153689044	Missense_Mutation	SNP	A	TCGA-29-2434-01A-01D-1526-09	730471	153689044	1581516	108	19823											
RGPD5	727851	genome.wustl.edu	37	2	113147719	113147719	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr2:113147719T>G	ENST00000302558.3	-	20	2994	c.2803A>C	c.(2803-2805)Aaa>Caa	p.K935Q	RGPD8_ENST00000409750.1_Missense_Mutation_p.K795Q	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	935					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTTTCCCTTTTCTTTTCTTGA	0.418																																																0			2											70	54	59					2																	113147719		692	1589	2281	112864190	SO:0001583	missense	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2803A>C	2.37:g.113147719T>G	ENSP00000306637:p.Lys935Gln		112864190	Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	0.395	-0.921594	0.02396	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.41758	0.99;0.99	1.89	0.485	0.16830	.	.	.	.	.	T	0.27798	0.0684	L	0.60455	1.87	0.48696	D	0.999696	P	0.44006	0.824	B	0.35353	0.201	T	0.13442	-1.0509	9	0.18710	T	0.47	-1.0096	4.3926	0.11348	0.0:0.3637:0.0:0.6363	.	935	O14715	RGPD8_HUMAN	Q	935;795	ENSP00000306637:K935Q;ENSP00000386511:K795Q	ENSP00000306637:K935Q	K	-	1	0	RGPD8	112864190	0.028000	0.19301	0.295000	0.24960	0.059000	0.15707	2.061000	0.41403	0.019000	0.15079	-1.522000	0.00932	AAA		0.418	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		G	113147719	T	G	113147719	3	3	361	1	0	0	0	0	1	0	0	0	13292	1792	62	5	13524	5	RGPD5	2	113147719	Missense_Mutation	SNP	T	TCGA-29-2436-01A-01D-1526-09		113147719	130051654	1	19824											
SLC6A1	6529	genome.wustl.edu	37	3	11067951	11067951	+	Silent	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr3:11067951G>A	ENST00000287766.4	+	10	1405	c.984G>A	c.(982-984)tcG>tcA	p.S328S	SLC6A1_ENST00000536032.1_Silent_p.S150S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	328					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GCATCAATTCGTGCACCAGCA	0.572																																																0			3											193	167	176					3																	11067951		2203	4300	6503	11042951	SO:0001819	synonymous_variant	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.984G>A	3.37:g.11067951G>A			11042951	Q8N4K8	Silent	SNP	ENST00000287766.4	37	CCDS2603.1																																																																																				0.572	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		A	11067951	G	A	11067951	2	1	361	1	0	0	0	0	0	0	0	1	14676	1132	40	1		1	SLC6A1	3	11067951	Silent	SNP	G	TCGA-29-2436-01A-01D-1526-09		11067951	186954479	2	19825											
GAD2	2572	genome.wustl.edu	37	10	26508165	26508165	+	Silent	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr10:26508165G>A	ENST00000376261.3	+	4	983	c.480G>A	c.(478-480)ttG>ttA	p.L160L	GAD2_ENST00000376248.1_Silent_p.L46L|GAD2_ENST00000259271.3_Silent_p.L160L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	160					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGAAATTTTGATGCATTGCC	0.294																																																0			10											70	76	74					10																	26508165		2203	4300	6503	26548171	SO:0001819	synonymous_variant	2572			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.480G>A	10.37:g.26508165G>A			26548171	Q9UD87	Silent	SNP	ENST00000376261.3	37	CCDS7149.1																																																																																				0.294	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		A	26508165	G	A	26508165	2	1	361	1	0	0	0	0	0	0	0	1	6180	1281	45	2		2	GAD2	10	26508165	Silent	SNP	G	TCGA-29-2436-01A-01D-1526-09		26508165	109026582	3	19826											
MYST4	23522	genome.wustl.edu	37	10	76789545	76789545	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr10:76789545G>C	ENST00000287239.4	+	18	5452	c.4963G>C	c.(4963-4965)Gtt>Ctt	p.V1655L	KAT6B_ENST00000372711.1_Missense_Mutation_p.V1472L|KAT6B_ENST00000372724.1_Missense_Mutation_p.V1363L|KAT6B_ENST00000372714.1_Missense_Mutation_p.V1363L|KAT6B_ENST00000372725.1_Missense_Mutation_p.V1363L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1655	Interaction with RUNX1 and RUNX2.|Ser-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGTCCCATCAGTTTCAGATCA	0.483																																																0			10											143	122	129					10																	76789545		2203	4300	6503	76459551	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4963G>C	10.37:g.76789545G>C	ENSP00000287239:p.Val1655Leu		76459551	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855377	0.51376	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.85702	-1.96;-1.96;-2.02;-1.96;-2.01	5.17	5.17	0.71159	.	0.000000	0.45126	D	0.000397	D	0.88987	0.6587	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.67145	0.959;0.99;0.996	D;D;D	0.77004	0.949;0.986;0.989	D	0.90443	0.4433	10	0.87932	D	0	-7.6818	18.656	0.91453	0.0:0.0:1.0:0.0	.	1472;1363;1655	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	L	1363;1363;1655;1363;1472	ENSP00000361810:V1363L;ENSP00000361809:V1363L;ENSP00000287239:V1655L;ENSP00000361799:V1363L;ENSP00000361796:V1472L	ENSP00000287239:V1655L	V	+	1	0	KAT6B	76459551	1.000000	0.71417	0.898000	0.35279	0.977000	0.68977	9.476000	0.97823	2.399000	0.81585	0.563000	0.77884	GTT		0.483	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		C	76789545	G	C	76789545	3	2	361	1	0	0	0	0	1	0	0	0	10105	1029	36	3	5025	3	MYST4	10	76789545	Missense_Mutation	SNP	G	TCGA-29-2436-01A-01D-1526-09	50281380	76789545	58745202	4	19827											
SORCS3	22986	genome.wustl.edu	37	10	106865197	106865197	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr10:106865197C>T	ENST00000369701.3	+	7	1363	c.1136C>T	c.(1135-1137)aCa>aTa	p.T379I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	379					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGTGCCGAGACAACTAGAAGT	0.483																																					NSCLC(116;1497 1690 7108 13108 14106)											0			10											161	129	140					10																	106865197		2203	4300	6503	106855187	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1136C>T	10.37:g.106865197C>T	ENSP00000358715:p.Thr379Ile		106855187	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266434	0.40095	.	.	ENSG00000156395	ENST00000369701	T	0.32272	1.46	5.43	5.43	0.79202	VPS10 (1);	0.176081	0.51477	D	0.000088	T	0.28928	0.0718	L	0.29908	0.895	0.37169	D	0.902973	P	0.42827	0.791	P	0.44422	0.449	T	0.14172	-1.0482	10	0.39692	T	0.17	.	14.727	0.69351	0.0:1.0:0.0:0.0	.	379	Q9UPU3	SORC3_HUMAN	I	379	ENSP00000358715:T379I	ENSP00000358715:T379I	T	+	2	0	SORCS3	106855187	0.999000	0.42202	0.986000	0.45419	0.278000	0.26855	4.578000	0.60929	2.536000	0.85505	0.462000	0.41574	ACA		0.483	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	106865197	C	T	106865197	3	4	361	1	0	0	0	0	1	0	0	0	14935	478	17	2	1162	2	SORCS3	10	106865197	Missense_Mutation	SNP	C	TCGA-29-2436-01A-01D-1526-09	30075652	106865197	28669550	5	19828											
PLEKHG3	26030	genome.wustl.edu	37	14	65209165	65209165	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr14:65209165G>A	ENST00000394691.1	+	16	3077	c.2930G>A	c.(2929-2931)gGt>gAt	p.G977D	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G482D|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.G921D|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G510D|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	977							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGCCATTAGGTGGCAAAGGT	0.582																																																0			14											17	18	18					14																	65209165		2188	4280	6468	64278918	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2930G>A	14.37:g.65209165G>A	ENSP00000378183:p.Gly977Asp		64278918	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	G	16.88	3.246023	0.59103	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.60171	0.66;0.21;1.55;1.55	5.43	2.45	0.29901	.	0.624658	0.14887	N	0.292610	T	0.61899	0.2384	M	0.63428	1.95	0.09310	N	1	D;D;P;D	0.71674	0.998;0.998;0.945;0.982	D;D;B;P	0.65874	0.939;0.939;0.439;0.642	T	0.52704	-0.8540	10	0.12766	T	0.61	.	3.2594	0.06844	0.095:0.1708:0.5577:0.1765	.	510;482;977;921	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	D	921;977;510;482	ENSP00000247226:G921D;ENSP00000378183:G977D;ENSP00000450945:G510D;ENSP00000450973:G482D	ENSP00000247226:G921D	G	+	2	0	PLEKHG3	64278918	0.001000	0.12720	0.004000	0.12327	0.101000	0.19017	0.936000	0.28938	1.424000	0.47217	0.655000	0.94253	GGT		0.582	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		A	65209165	G	A	65209165	3	1	361	1	0	0	0	0	1	0	0	0	12070	1261	44	2	2812	2	PLEKHG3	14	65209165	Missense_Mutation	SNP	G	TCGA-29-2436-01A-01D-1526-09		65209165	42140375	6	19829											
BIRC8	112401	genome.wustl.edu	37	19	53793623	53793623	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr19:53793623G>A	ENST00000426466.1	-	1	1252	c.5C>T	c.(4-6)aCg>aTg	p.T2M		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	2					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTCATAACCCGTCATGGATGG	0.423																																																0			19											42	47	45					19																	53793623		2199	4299	6498	58485435	SO:0001583	missense	112401			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.5C>T	19.37:g.53793623G>A	ENSP00000412957:p.Thr2Met		58485435	Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	G	5.919	0.353578	0.11182	.	.	ENSG00000163098	ENST00000426466	T	0.03951	3.75	0.502	0.502	0.16932	Baculoviral inhibition of apoptosis protein repeat (2);	.	.	.	.	T	0.03136	0.0092	L	0.38175	1.15	0.09310	N	1	P	0.34892	0.474	B	0.16722	0.016	T	0.41858	-0.9485	9	0.54805	T	0.06	-19.3377	3.6066	0.08045	0.0:1.0E-4:0.5617:0.4382	.	2	Q96P09	BIRC8_HUMAN	M	2	ENSP00000412957:T2M	ENSP00000412957:T2M	T	-	2	0	BIRC8	58485435	0.975000	0.34042	0.002000	0.10522	0.004000	0.04260	0.844000	0.27654	0.578000	0.29487	0.420000	0.28162	ACG		0.423	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		A	53793623	G	A	53793623	3	1	361	1	0	0	0	0	1	0	0	0	1440	1145	40	1	709	1	BIRC8	19	53793623	Missense_Mutation	SNP	G	TCGA-29-2436-01A-01D-1526-09		53793623	5335360	7	19830											
CDH26	60437	genome.wustl.edu	37	20	58570919	58570919	+	Silent	SNP	C	C	T			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr20:58570919C>T	ENST00000244047.5	+	12	2009	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Silent_p.S566S			Q8IXH8	CAD26_HUMAN	cadherin 26	566					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTTGAGAAGCCTGCCACGTG	0.473																																																0			20											96	92	94					20																	58570919		2203	4300	6503	58004314	SO:0001819	synonymous_variant	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1698C>T	20.37:g.58570919C>T			58004314	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37		.	.	.	.	.	.	.	.	.	.	C	0.569	-0.842123	0.02671	.	.	ENSG00000124215	ENST00000370991	.	.	.	4.56	2.57	0.30868	.	.	.	.	.	T	0.54351	0.1853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48906	-0.8993	4	.	.	.	.	6.2306	0.20732	0.1533:0.6663:0.0:0.1804	.	.	.	.	V	158	.	.	A	+	2	0	CDH26	58004314	0.330000	0.24705	0.268000	0.24571	0.029000	0.11900	-0.005000	0.12855	1.039000	0.40074	0.655000	0.94253	GCC		0.473	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		T	58570919	C	T	58570919	2	4	361	1	0	0	0	0	0	0	0	1	3110	738	26	2		2	CDH26	20	58570919	Silent	SNP	C	TCGA-29-2436-01A-01D-1526-09		58570919	4454601	8	19831											
PHF8	23133	genome.wustl.edu	37	X	53966650	53966650	+	Silent	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chrX:53966650G>A	ENST00000357988.5	-	21	3415	c.3057C>T	c.(3055-3057)cgC>cgT	p.R1019R	PHF8_ENST00000338946.6_Silent_p.R882R|PHF8_ENST00000338154.6_Silent_p.R983R	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1019					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CAACTGAAGGGCGCCGCTGGG	0.572																																																0			X											25	23	24					X																	53966650		2199	4295	6494	53983375	SO:0001819	synonymous_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.3057C>T	X.37:g.53966650G>A			53983375	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	G	9.903	1.207370	0.22205	.	.	ENSG00000172943	ENST00000396282	.	.	.	5.22	1.17	0.20885	.	.	.	.	.	T	0.44393	0.1291	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24333	-1.0163	4	.	.	.	-6.5254	3.3675	0.07208	0.1686:0.2165:0.4966:0.1182	.	.	.	.	V	887	.	.	A	-	2	0	PHF8	53983375	0.990000	0.36364	1.000000	0.80357	0.986000	0.74619	0.046000	0.14035	0.412000	0.25729	0.509000	0.49947	GCC		0.572	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		A	53966650	G	A	53966650	2	1	361	1	0	0	0	0	0	0	0	1	11840	1190	42	2		2	PHF8	23	53966650	Silent	SNP	G	TCGA-29-2436-01A-01D-1526-09		53966650	101303910	9	19832											
IGSF21	84966	genome.wustl.edu	37	1	18691778	18691778	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:18691778C>T	ENST00000251296.1	+	6	985	c.602C>T	c.(601-603)gCg>gTg	p.A201V		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	201						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCACCAGCTGCGAGCTCCGGC	0.572																																																0			1											50	55	53					1																	18691778		2203	4300	6503	18564365	SO:0001583	missense	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.602C>T	1.37:g.18691778C>T	ENSP00000251296:p.Ala201Val		18564365	Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	5.529	0.282591	0.10458	.	.	ENSG00000117154	ENST00000251296	T	0.30981	1.51	4.76	2.58	0.30949	.	0.669254	0.15349	N	0.267067	T	0.17365	0.0417	N	0.12182	0.205	0.23314	N	0.997927	P	0.45126	0.851	B	0.42882	0.401	T	0.09037	-1.0693	10	0.16896	T	0.51	-15.2744	10.4679	0.44618	0.1305:0.6775:0.192:0.0	.	201	Q96ID5	IGS21_HUMAN	V	201	ENSP00000251296:A201V	ENSP00000251296:A201V	A	+	2	0	IGSF21	18564365	0.001000	0.12720	0.015000	0.15790	0.735000	0.41995	0.558000	0.23469	1.078000	0.41014	0.561000	0.74099	GCG		0.572	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		T	18691778	C	T	18691778	3	4	362	1	0	0	0	0	1	0	0	0	7599	768	27	1	624	1	IGSF21	1	18691778	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09		18691778	230558843	1	19833											
GJB4	127534	genome.wustl.edu	37	1	35226950	35226950	+	Missense_Mutation	SNP	G	G	A	rs148686980		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:35226950G>A	ENST00000339480.1	+	2	465	c.95G>A	c.(94-96)cGt>cAt	p.R32H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	32					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TTCATCTTTCGTGTGCTGGTG	0.582																																																0			1						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	227	157	180		95	5.5	0.9	1	dbSNP_134	180	0,8600		0,0,4300	no	missense	GJB4	NM_153212.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	32/267	35226950	1,13005	2203	4300	6503	34999537	SO:0001583	missense	127534				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.95G>A	1.37:g.35226950G>A	ENSP00000345868:p.Arg32His		34999537	B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340106	0.81911	2.27E-4	0.0	ENSG00000189433	ENST00000339480	D	0.99688	-6.41	5.5	5.5	0.81552	Connexin, N-terminal (1);	0.060228	0.64402	D	0.000004	D	0.99854	0.9932	H	0.97465	4.01	0.48185	D	0.999602	D	0.89917	1.0	D	0.97110	1.0	D	0.96682	0.9504	10	0.87932	D	0	.	18.9965	0.92815	0.0:0.0:1.0:0.0	.	32	Q9NTQ9	CXB4_HUMAN	H	32	ENSP00000345868:R32H	ENSP00000345868:R32H	R	+	2	0	GJB4	34999537	1.000000	0.71417	0.941000	0.38009	0.336000	0.28762	7.959000	0.87885	2.604000	0.88044	0.655000	0.94253	CGT		0.582	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		A	35226950	G	A	35226950	3	1	362	1	0	0	0	0	1	0	0	0	6410	1145	40	1	97	1	GJB4	1	35226950	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	16535172	35226950	214023671	2	19834											
C1orf175	374977	genome.wustl.edu	37	1	55145093	55145093	+	Missense_Mutation	SNP	G	G	T	rs374825894		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:55145093G>T	ENST00000421030.2	+	12	2492	c.2207G>T	c.(2206-2208)cGc>cTc	p.R736L	MROH7_ENST00000545244.1_Missense_Mutation_p.R304L|MROH7_ENST00000454855.2_Missense_Mutation_p.R254L|MROH7_ENST00000395690.2_Missense_Mutation_p.R736L|MROH7_ENST00000339553.5_Missense_Mutation_p.R736L|MROH7_ENST00000409996.1_Missense_Mutation_p.R304L|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R736L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	736						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAGTGGTACCGCCACAGGGCG	0.662																																																0			1											27	35	32					1																	55145093		2088	4223	6311	54917681	SO:0001583	missense	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2207G>T	1.37:g.55145093G>T	ENSP00000396622:p.Arg736Leu		54917681	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932292	0.52866	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	4.94	1.85	0.25348	.	0.623793	0.13198	N	0.406192	T	0.35480	0.0933	L	0.60455	1.87	0.22684	N	0.998857	D;P;P	0.56035	0.974;0.955;0.785	P;P;B	0.52856	0.625;0.711;0.095	T	0.13388	-1.0511	10	0.42905	T	0.14	-0.1619	3.9737	0.09465	0.1985:0.0:0.6152:0.1863	.	736;736;304	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	L	736;304;765;736;304;254;736	ENSP00000396622:R736L;ENSP00000442333:R304L;ENSP00000343211:R736L;ENSP00000387048:R304L;ENSP00000401130:R254L;ENSP00000379044:R736L	ENSP00000343211:R736L	R	+	2	0	HEATR8	54917681	0.991000	0.36638	0.998000	0.56505	0.914000	0.54420	0.944000	0.29043	0.498000	0.27948	-0.259000	0.10710	CGC		0.662	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		T	55145093	G	T	55145093	3	4	362	1	0	0	0	0	1	0	0	0	2016	1087	38	3	2245	3	C1orf175	1	55145093	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	19918143	55145093	194105528	3	19835											
BARHL2	343472	genome.wustl.edu	37	1	91180265	91180265	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:91180265G>C	ENST00000370445.4	-	2	715	c.674C>G	c.(673-675)cCc>cGc	p.P225R		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	225					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TCTCACAGGGGGACTCTCACG	0.547																																					GBM(199;3561 4100 22440)											0			1											156	155	155					1																	91180265		2203	4300	6503	90952853	SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.674C>G	1.37:g.91180265G>C	ENSP00000359474:p.Pro225Arg		90952853	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720659	0.68959	.	.	ENSG00000143032	ENST00000370445	D	0.95588	-3.75	5.1	5.1	0.69264	Homeodomain-related (1);Homeodomain-like (1);	0.059845	0.64402	D	0.000002	D	0.94922	0.8358	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93721	0.7033	10	0.26408	T	0.33	.	17.1014	0.86651	0.0:0.0:1.0:0.0	.	225	Q9NY43	BARH2_HUMAN	R	225	ENSP00000359474:P225R	ENSP00000359474:P225R	P	-	2	0	BARHL2	90952853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.233000	0.95337	2.348000	0.79779	0.655000	0.94253	CCC		0.547	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			C	91180265	G	C	91180265	3	2	362	1	0	0	0	0	1	0	0	0	1314	1232	43	3	497	3	BARHL2	1	91180265	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	36035172	91180265	158070356	4	19836											
TBX15	6913	genome.wustl.edu	37	1	119427800	119427800	+	Missense_Mutation	SNP	G	G	A	rs141953431		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:119427800G>A	ENST00000369429.3	-	8	1373	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L	TBX15_ENST00000207157.3_Missense_Mutation_p.S349L			Q96SF7	TBX15_HUMAN	T-box 15	455					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S349L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GCCAGGCAACGAGGGAGGAGT	0.562																																																1	Substitution - Missense(1)	skin(1)	1						G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	72	65	68		1046	5.3	1	1	dbSNP_134	68	0,8600		0,0,4300	no	missense	TBX15	NM_152380.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	349/497	119427800	1,13005	2203	4300	6503	119229323	SO:0001583	missense	6913			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1364C>T	1.37:g.119427800G>A	ENSP00000358437:p.Ser455Leu		119229323	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37		.	.	.	.	.	.	.	.	.	.	G	18.76	3.693546	0.68386	2.27E-4	0.0	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	D;D;T	0.88896	-2.44;-2.38;-1.39	5.31	5.31	0.75309	.	0.374925	0.27871	N	0.017511	D	0.90089	0.6904	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.999;0.995	P;P	0.56563	0.801;0.736	D	0.89836	0.3999	10	0.54805	T	0.06	.	19.1626	0.93539	0.0:0.0:1.0:0.0	.	252;455	E9PCG3;Q96SF7	.;TBX15_HUMAN	L	252;349;455;183;182	ENSP00000207157:S349L;ENSP00000358437:S455L;ENSP00000398625:S183L	ENSP00000207157:S349L	S	-	2	0	TBX15	119229323	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	6.320000	0.72876	2.768000	0.95171	0.561000	0.74099	TCG		0.562	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		A	119427800	G	A	119427800	3	1	362	1	0	0	0	0	1	0	0	0	15652	1059	37	1	448	1	TBX15	1	119427800	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	28247535	119427800	129822821	5	19837											
TOR1AIP2	163590	genome.wustl.edu	37	1	179815640	179815641	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	GA	GA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:179815640_179815641delGA	ENST00000367612.3	-	6	1365_1366	c.978_979delTC	c.(976-981)tctcccfs	p.P327fs	TOR1AIP2_ENST00000609928.1_Frame_Shift_Del_p.P327fs	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						ATCTGAATGGGAGAGACTTTCT	0.54																																																0			1																																								178082264	SO:0001589	frameshift_variant	163590				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.978_979delTC	1.37:g.179815644_179815645delGA	ENSP00000356584:p.Pro327fs		178082263	Q05BU2	Frame_Shift_Del	DEL	ENST00000367612.3	37	CCDS1334.1																																																																																				0.54	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		-	179815641	GA	-	179815640	7	5	362	1	0	1	0	1	0	0	0	0	16373	1174	41	0	437	0	TOR1AIP2	1	179815640	Frame_Shift_Del	DEL	GA	TCGA-30-1714-01A-02W-0633-09	60387840	179815640	69434981	6	19838											
KIF21B	23046	genome.wustl.edu	37	1	200954053	200954053	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:200954053G>A	ENST00000422435.2	-	27	4053	c.3737C>T	c.(3736-3738)cCc>cTc	p.P1246L	KIF21B_ENST00000461742.2_Missense_Mutation_p.P1246L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P1246L|KIF21B_ENST00000332129.2_Missense_Mutation_p.P1246L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1246					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTCATTGCGGGGCCGAGTGGG	0.622																																																0			1											94	87	89					1																	200954053		2203	4300	6503	199220676	SO:0001583	missense	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3737C>T	1.37:g.200954053G>A	ENSP00000411831:p.Pro1246Leu		199220676	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276290	0.40294	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71698	-0.22;-0.54;-0.59;-0.28	5.55	5.55	0.83447	.	0.200952	0.43110	D	0.000618	T	0.66470	0.2792	L	0.47716	1.5	0.51012	D	0.999906	B;B;B;B	0.32245	0.22;0.22;0.361;0.328	B;B;B;B	0.30495	0.086;0.086;0.075;0.116	T	0.63422	-0.6641	10	0.32370	T	0.25	.	19.5116	0.95144	0.0:0.0:1.0:0.0	.	1246;1246;1246;1246	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	L	1246	ENSP00000328494:P1246L;ENSP00000353724:P1246L;ENSP00000433808:P1246L;ENSP00000411831:P1246L	ENSP00000328494:P1246L	P	-	2	0	KIF21B	199220676	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.833000	0.69349	2.615000	0.88500	0.561000	0.74099	CCC		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200954053	G	A	200954053	3	1	362	1	0	0	0	0	1	0	0	0	8289	1232	43	2	1169	2	KIF21B	1	200954053	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	21138413	200954053	48296568	7	19839											
NAV1	89796	genome.wustl.edu	37	1	201777829	201777829	+	Splice_Site	SNP	A	A	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:201777829A>C	ENST00000367296.4	+	20	4458		c.e20-1		NAV1_ENST00000367297.4_Splice_Site|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367295.1_Splice_Site|NAV1_ENST00000367300.3_Splice_Site|NAV1_ENST00000295624.6_Splice_Site|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Splice_Site	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1						microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCTTGCCACAGTTGGAGGTG	0.587																																																0			1											89	92	91					1																	201777829		2203	4300	6503	200044452	SO:0001630	splice_region_variant	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4039-1A>C	1.37:g.201777829A>C			200044452	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Splice_Site	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	a	18.69	3.677761	0.68042	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5274	0.75923	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV1	200044452	1.000000	0.71417	0.952000	0.39060	0.867000	0.49689	9.083000	0.94067	2.156000	0.67533	0.441000	0.28932	.		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	Intron	C	201777829	A	C	201777829	5	2	362	1	0	0	0	0	0	0	1	0	10183	202	7	5	4172	5	NAV1	1	201777829	Splice_Site	SNP	A	TCGA-30-1714-01A-02W-0633-09	823776	201777829	47472792	8	19840											
FAM71A	149647	genome.wustl.edu	37	1	212798351	212798351	+	Silent	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:212798351G>A	ENST00000294829.3	+	1	563	c.132G>A	c.(130-132)ccG>ccA	p.P44P	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	44						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGTATGCACCGATATTTGAGA	0.512																																																0			1											179	161	167					1																	212798351		2203	4300	6503	210864974	SO:0001819	synonymous_variant	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.132G>A	1.37:g.212798351G>A			210864974	Q5VTZ1	Silent	SNP	ENST00000294829.3	37	CCDS1507.1																																																																																				0.512	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		A	212798351	G	A	212798351	2	1	362	1	0	0	0	0	0	0	0	1	5607	1045	37	1		1	FAM71A	1	212798351	Silent	SNP	G	TCGA-30-1714-01A-02W-0633-09	11020522	212798351	36452270	9	19841											
SPHAR	10638	genome.wustl.edu	37	1	229441032	229441032	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:229441032A>C	ENST00000366688.3	+	1	904	c.151A>C	c.(151-153)Aat>Cat	p.N51H	RAB4A_ENST00000366690.4_3'UTR	NM_006542.3	NP_006533.1	Q15513	SPHAR_HUMAN	S-phase response (cyclin related)	51					DNA replication (GO:0006260)							Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TATTTTATTCAATGTCTCATT	0.318																																																0			1											54	56	55					1																	229441032		2201	4294	6495	227507655	SO:0001583	missense	10638			BC070287	CCDS1576.1	1q42.13	2009-03-11			ENSG00000213029	ENSG00000213029			16957	protein-coding gene	gene with protein product						7799938	Standard	NM_006542		Approved		uc001htk.4	Q15513	OTTHUMG00000058947	ENST00000366688.3:c.151A>C	1.37:g.229441032A>C	ENSP00000355649:p.Asn51His		227507655	Q4EW09|Q6NSB9	Missense_Mutation	SNP	ENST00000366688.3	37	CCDS1576.1	.	.	.	.	.	.	.	.	.	.	A	7.380	0.628618	0.14257	.	.	ENSG00000213029	ENST00000366688	.	.	.	4.9	-0.221	0.13126	.	.	.	.	.	T	0.47248	0.1435	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.53313	0.723	T	0.39099	-0.9630	7	0.87932	D	0	.	7.7272	0.28767	0.5811:0.0:0.4189:0.0	.	51	Q15513	SPHAR_HUMAN	H	51	.	ENSP00000355649:N51H	N	+	1	0	SPHAR	227507655	0.000000	0.05858	0.000000	0.03702	0.247000	0.25773	-0.048000	0.11944	0.041000	0.15688	0.533000	0.62120	AAT		0.318	SPHAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130347.1	NM_006542		C	229441032	A	C	229441032	3	2	362	1	0	0	0	0	1	0	0	0	15047	130	5	5	153	5	SPHAR	1	229441032	Missense_Mutation	SNP	A	TCGA-30-1714-01A-02W-0633-09	16642681	229441032	19809589	10	19842											
ACTN2	88	genome.wustl.edu	37	1	236918421	236918421	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:236918421G>A	ENST00000366578.4	+	17	2243	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	ACTN2_ENST00000546208.1_Missense_Mutation_p.D187N|ACTN2_ENST00000542672.1_Missense_Mutation_p.D693N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	693					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.D693N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAACAACATCGACAAGCTGGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											201	192	195					1																	236918421		2203	4300	6503	234985044	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2077G>A	1.37:g.236918421G>A	ENSP00000355537:p.Asp693Asn		234985044	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574577	0.65878	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.51574	0.7;0.7;0.7	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.47716	1.5	0.80722	D	1	D;B;D;D	0.76494	0.999;0.028;0.999;0.995	D;B;D;D	0.87578	0.998;0.057;0.998;0.987	T	0.61168	-0.7117	10	0.36615	T	0.2	.	17.4718	0.87648	0.0:0.0:1.0:0.0	.	478;693;463;693	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	693;693;187;462	ENSP00000443495:D693N;ENSP00000355537:D693N;ENSP00000438384:D187N	ENSP00000355537:D693N	D	+	1	0	ACTN2	234985044	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	9.835000	0.99442	2.100000	0.63781	0.557000	0.71058	GAC		0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		A	236918421	G	A	236918421	3	1	362	1	0	0	0	0	1	0	0	0	205	1058	37	1	2143	1	ACTN2	1	236918421	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	7477389	236918421	12332200	11	19843											
OR2M4	26245	genome.wustl.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													t|||	11	0.00219649	0.0045	0.0014	5008	,	,		18038	0		0	False		,,,				2504	0.0041															2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	1						T	MET/THR	29,4377	823.6+/-416.5	0,29,2174	131	113	119		800	1.4	0	1	dbSNP_134	119	1,8599	819.2+/-406.8	0,1,4299	yes	missense	OR2M4	NM_017504.1	81	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	probably-damaging	267/312	248403030	30,12976	2203	4300	6503	246469653	SO:0001583	missense	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.800C>T	1.37:g.248403030C>T	ENSP00000306688:p.Thr267Met		246469653	Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	CCDS31108.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	OR2M4	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG		0.517	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		T	248403030	C	T	248403030	3	4	362	1	0	0	0	0	1	0	0	0	11012	536	19	1	802	1	OR2M4	1	248403030	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09	11484609	248403030	847591	12	19844											
OTX1	5013	genome.wustl.edu	37	2	63282935	63282935	+	Silent	SNP	G	G	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:63282935G>C	ENST00000282549.2	+	5	825	c.549G>C	c.(547-549)tcG>tcC	p.S183S	OTX1_ENST00000366671.3_Silent_p.S183S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	183					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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 positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCTCCATCTCGCCAGGCTCAG	0.706																																																0			2											12	14	13					2																	63282935		2188	4284	6472	63136439	SO:0001819	synonymous_variant	5013				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.549G>C	2.37:g.63282935G>C			63136439	A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	CCDS1873.1																																																																																				0.706	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			C	63282935	G	C	63282935	2	2	362	1	0	0	0	0	0	0	0	1	11320	1074	38	3		3	OTX1	2	63282935	Silent	SNP	G	TCGA-30-1714-01A-02W-0633-09		63282935	179916438	13	19845											
GALNT5	11227	genome.wustl.edu	37	2	158115030	158115030	+	Missense_Mutation	SNP	G	G	A	rs112355701	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:158115030G>A	ENST00000259056.4	+	1	921	c.436G>A	c.(436-438)Ggg>Agg	p.G146R		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	146					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GAAGACAGACGGGAGAGGCAC	0.547													g|||	49	0.00978435	0.0348	0.0043	5008	,	,		17043	0		0	False		,,,				2504	0															0			2						A	ARG/GLY	106,4300	82.9+/-121.4	1,104,2098	65	67	66		436	2.8	0	2	dbSNP_132	66	0,8600		0,0,4300	yes	missense	GALNT5	NM_014568.1	125	1,104,6398	AA,AG,GG		0.0,2.4058,0.815	benign	146/941	158115030	106,12900	2203	4300	6503	157823276	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.436G>A	2.37:g.158115030G>A	ENSP00000259056:p.Gly146Arg		157823276	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	g	11.34	1.610893	0.28712	0.024058	0.0	ENSG00000136542	ENST00000259056	T	0.57907	0.37	5.51	2.78	0.32641	.	2.054810	0.01854	N	0.036128	T	0.24851	0.0603	N	0.20986	0.625	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.14200	-1.0481	10	0.34782	T	0.22	.	5.5498	0.17083	0.2367:0.1425:0.6208:0.0	.	146	Q7Z7M9	GALT5_HUMAN	R	146	ENSP00000259056:G146R	ENSP00000259056:G146R	G	+	1	0	GALNT5	157823276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.148000	0.10219	0.398000	0.25338	-1.551000	0.00897	GGG		0.547	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		A	158115030	G	A	158115030	3	1	362	1	0	0	0	0	1	0	0	0	6216	1116	39	1	438	1	GALNT5	2	158115030	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	94832095	158115030	85084343	14	19846											
FIGN	55137	genome.wustl.edu	37	2	164468235	164468235	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:164468235G>T	ENST00000333129.3	-	3	421	c.107C>A	c.(106-108)gCc>gAc	p.A36D	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	36					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AACTTTGTGGGCAGGAGACCG	0.517																																																0			2											105	106	106					2																	164468235		2081	4231	6312	164176481	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.107C>A	2.37:g.164468235G>T	ENSP00000333836:p.Ala36Asp		164176481	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333599	0.81801	.	.	ENSG00000182263	ENST00000333129	T	0.32515	1.45	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	T	0.57814	0.2079	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.53121	-0.8483	10	0.59425	D	0.04	-12.6081	20.8794	0.99867	0.0:0.0:1.0:0.0	.	36	Q5HY92	FIGN_HUMAN	D	36	ENSP00000333836:A36D	ENSP00000333836:A36D	A	-	2	0	FIGN	164176481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCC		0.517	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		T	164468235	G	T	164468235	3	4	362	1	0	0	0	0	1	0	0	0	5891	1203	42	3	2176	3	FIGN	2	164468235	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	6353205	164468235	78731138	15	19847											
COL4A4	1286	genome.wustl.edu	37	2	227963503	227963503	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:227963503C>A	ENST00000396625.3	-	19	1318	c.1111G>T	c.(1111-1113)Gac>Tac	p.D371Y	COL4A4_ENST00000329662.7_Missense_Mutation_p.D371Y	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	371	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AACCCTGGGTCCCCTGGTGGG	0.493																																																0			2											35	36	35					2																	227963503		1849	4089	5938	227671747	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1111G>T	2.37:g.227963503C>A	ENSP00000379866:p.Asp371Tyr		227671747	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073359	0.55646	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94457	-3.43;-3.43	5.71	5.71	0.89125	.	.	.	.	.	D	0.95310	0.8478	L	0.32530	0.975	0.49213	D	0.999769	D	0.89917	1.0	D	0.91635	0.999	D	0.95457	0.8539	9	0.62326	D	0.03	.	15.3395	0.74284	0.0:1.0:0.0:0.0	.	371	P53420	CO4A4_HUMAN	Y	371	ENSP00000379866:D371Y;ENSP00000328553:D371Y	ENSP00000328553:D371Y	D	-	1	0	COL4A4	227671747	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.035000	0.57297	2.701000	0.92244	0.591000	0.81541	GAC		0.493	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		A	227963503	C	A	227963503	3	1	362	1	0	0	0	0	1	0	0	0	3693	855	30	3	4081	3	COL4A4	2	227963503	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09	63495268	227963503	15235870	16	19848											
ALPP	250	genome.wustl.edu	37	2	233246247	233246247	+	Missense_Mutation	SNP	C	C	G	rs140739243		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:233246247C>G	ENST00000392027.2	+	11	1619	c.1350C>G	c.(1348-1350)gaC>gaG	p.D450E	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	450					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCCCCTGGACGAAGAGACCC	0.652																																																0			2						C	GLU/ASP	0,4404		0,0,2202	28	32	31		1350	-4.7	0	2	dbSNP_134	31	7,8593	5.7+/-21.5	0,7,4293	no	missense	ALPP	NM_001632.3	45	0,7,6495	GG,GC,CC		0.0814,0.0,0.0538	benign	450/536	233246247	7,12997	2202	4300	6502	232954491	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1350C>G	2.37:g.233246247C>G	ENSP00000375881:p.Asp450Glu		232954491	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	C	4.625	0.116106	0.08831	0.0	8.14E-4	ENSG00000163283	ENST00000392027	D	0.95980	-3.87	2.35	-4.69	0.03299	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.646820	0.03459	N	0.211969	D	0.88168	0.6364	N	0.25890	0.77	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.81634	-0.0844	10	0.02654	T	1	.	5.5086	0.16868	0.2128:0.1846:0.5216:0.0809	.	450	P05187	PPB1_HUMAN	E	450	ENSP00000375881:D450E	ENSP00000375881:D450E	D	+	3	2	ALPP	232954491	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-3.708000	0.00387	-2.678000	0.00410	-0.704000	0.03662	GAC		0.652	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		G	233246247	C	G	233246247	3	3	362	1	0	0	0	0	1	0	0	0	548	535	19	3	1392	3	ALPP	2	233246247	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09	5282744	233246247	9953126	17	19849											
COL6A3	1293	genome.wustl.edu	37	2	238275606	238275606	+	Missense_Mutation	SNP	G	G	A	rs578249894		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:238275606G>A	ENST00000295550.4	-	11	5676	c.5224C>T	c.(5224-5226)Cgg>Tgg	p.R1742W	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1536W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1135W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1536W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1542W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1541W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1742	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGGGACCCGCTGGTCCAGG	0.592																																																0			2											59	59	59					2																	238275606		2203	4300	6503	237940345	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5224C>T	2.37:g.238275606G>A	ENSP00000295550:p.Arg1742Trp		237940345	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755715	0.31046	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.56	-4.6	0.03390	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000054	D	0.83220	0.5207	M	0.69358	2.11	0.39974	D	0.974826	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.965	D	0.83613	0.0135	10	0.66056	D	0.02	.	13.8756	0.63651	0.0:0.061:0.585:0.354	.	1135;1536;1742	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	W	1742;1541;1536;1135;1536;1542	ENSP00000295550:R1742W;ENSP00000315609:R1541W;ENSP00000315873:R1536W;ENSP00000418285:R1135W;ENSP00000386844:R1536W;ENSP00000295546:R1542W	ENSP00000295550:R1742W	R	-	1	2	COL6A3	237940345	1.000000	0.71417	0.857000	0.33713	0.213000	0.24496	1.138000	0.31491	-0.504000	0.06577	-0.188000	0.12872	CGG		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238275606	G	A	238275606	3	1	362	1	0	0	0	0	1	0	0	0	3701	1086	38	1	4445	1	COL6A3	2	238275606	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	5029359	238275606	4923767	18	19850											
CCR9	10803	genome.wustl.edu	37	3	45943015	45943015	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:45943015G>T	ENST00000357632.2	+	3	915	c.735G>T	c.(733-735)aaG>aaT	p.K245N	Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.K233N|CCR9_ENST00000355983.2_Missense_Mutation_p.K233N|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	245					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.K245N(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TACAAGCCAAGAAGTCTTCCA	0.483																																																1	Substitution - Missense(1)	large_intestine(1)	3											215	180	191					3																	45943015		2203	4300	6503	45918019	SO:0001583	missense	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.735G>T	3.37:g.45943015G>T	ENSP00000350256:p.Lys245Asn		45918019	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463270	0.63513	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.37584	1.19;1.19;1.19	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.332930	0.30920	N	0.008601	T	0.48874	0.1524	M	0.66439	2.03	0.46185	D	0.998911	P	0.42620	0.785	P	0.55455	0.776	T	0.52283	-0.8596	10	0.72032	D	0.01	.	6.4459	0.21875	0.2285:0.0:0.7715:0.0	.	245	P51686	CCR9_HUMAN	N	245;233;233	ENSP00000350256:K245N;ENSP00000379292:K233N;ENSP00000348260:K233N	ENSP00000348260:K233N	K	+	3	2	CCR9	45918019	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.117000	0.50407	2.289000	0.77006	0.563000	0.77884	AAG		0.483	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			T	45943015	G	T	45943015	3	4	362	1	0	0	0	0	1	0	0	0	2948	933	33	3	741	3	CCR9	3	45943015	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09		45943015	152079415	19	19851											
NEK11	79858	genome.wustl.edu	37	3	130748709	130748709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:130748709C>T	ENST00000510769.1	+	2	410	c.157C>T	c.(157-159)Cga>Tga	p.R53*	NEK11_ENST00000356918.4_Nonsense_Mutation_p.R53*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.R53*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.R53*|NEK11_ENST00000383366.4_Nonsense_Mutation_p.R53*|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000507910.1_Nonsense_Mutation_p.R53*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.R53*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.R53*					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GAAAGCCAAACGAGGAGAGGA	0.413																																																0			3											110	107	108					3																	130748709		2203	4300	6503	132231399	SO:0001587	stop_gained	79858			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.157C>T	3.37:g.130748709C>T	ENSP00000421549:p.Arg53*		132231399		Nonsense_Mutation	SNP	ENST00000510769.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.412624	0.96072	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	.	.	.	5.65	3.84	0.44239	.	0.682591	0.12665	N	0.449241	.	.	.	.	.	.	0.20403	N	0.99991	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	11.6802	0.51453	0.1284:0.5001:0.3715:0.0	.	.	.	.	X	53	.	ENSP00000349389:R53X	R	+	1	2	NEK11	132231399	0.693000	0.27728	0.039000	0.18376	0.851000	0.48451	0.456000	0.21859	0.724000	0.32296	0.655000	0.94253	CGA		0.413	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		T	130748709	C	T	130748709	4	4	362	1	0	0	0	0	0	1	0	0	10323	528	19	1	159	1	NEK11	3	130748709	Nonsense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09	84805694	130748709	67273721	20	19852											
TMEM22	80723	genome.wustl.edu	37	3	136573405	136573405	+	Missense_Mutation	SNP	G	G	A	rs150150766		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:136573405G>A	ENST00000446465.2	+	2	731	c.103G>A	c.(103-105)Gat>Aat	p.D35N	SLC35G2_ENST00000393079.3_Missense_Mutation_p.D35N|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		CCAGCCTGGCGATGATGGATA	0.383																																																0			3						G	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	144	160	155		103,103,103	5.5	1	3	dbSNP_134	155	3,8593	3.0+/-9.4	0,3,4295	no	missense,missense,missense	TMEM22	NM_001097599.1,NM_001097600.1,NM_025246.2	23,23,23	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign	35/413,35/413,35/413	136573405	3,12999	2203	4298	6501	138056095	SO:0001583	missense	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.103G>A	3.37:g.136573405G>A	ENSP00000400839:p.Asp35Asn		138056095		Missense_Mutation	SNP	ENST00000446465.2	37	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382122	0.61845	0.0	3.49E-4	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.31769	1.48;1.48	5.46	5.46	0.80206	.	0.202922	0.50627	D	0.000117	T	0.28928	0.0718	L	0.46157	1.445	0.58432	D	0.999999	P	0.51653	0.947	B	0.37508	0.252	T	0.16778	-1.0391	10	0.72032	D	0.01	.	17.8606	0.88780	0.0:0.0:1.0:0.0	.	35	Q8TBE7	TMM22_HUMAN	N	35	ENSP00000400839:D35N;ENSP00000376794:D35N	ENSP00000376794:D35N	D	+	1	0	TMEM22	138056095	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.356000	0.79445	2.567000	0.86603	0.491000	0.48974	GAT		0.383	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		A	136573405	G	A	136573405	3	1	362	1	0	0	0	0	1	0	0	0	16143	1058	37	1	105	1	TMEM22	3	136573405	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	5824696	136573405	61449025	21	19853											
CEP70	80321	genome.wustl.edu	37	3	138213919	138213919	+	Splice_Site	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:138213919C>T	ENST00000264982.3	-	18	1999		c.e18-1		CEP70_ENST00000489254.1_Splice_Site|CEP70_ENST00000484888.1_Splice_Site|CEP70_ENST00000542237.1_Splice_Site	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCATCAATTTCTGTAATACAA	0.294																																																0			3											45	47	47					3																	138213919		2199	4290	6489	139696609	SO:0001630	splice_region_variant	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1733-1G>A	3.37:g.138213919C>T			139696609	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Splice_Site	SNP	ENST00000264982.3	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576400	0.65878	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2622	0.60111	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP70	139696609	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.058000	0.57463	2.578000	0.87016	0.650000	0.86243	.		0.294	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	Intron	T	138213919	C	T	138213919	5	4	362	1	0	0	0	0	0	0	1	0	3259	927	32	2	65	2	CEP70	3	138213919	Splice_Site	SNP	C	TCGA-30-1714-01A-02W-0633-09	1640514	138213919	59808511	22	19854											
TIPARP	25976	genome.wustl.edu	37	3	156395504	156395504	+	Silent	SNP	C	C	T	rs190841318		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:156395504C>T	ENST00000461166.1	+	2	606	c.18C>T	c.(16-18)acC>acT	p.T6T	TIPARP_ENST00000295924.7_Silent_p.T6T|TIPARP_ENST00000486483.1_Silent_p.T6T|TIPARP_ENST00000542783.1_Silent_p.T6T	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	6					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGAAACCACCGAACCTGAGC	0.448													C|||	1	0.000199681	0	0	5008	,	,		17793	0.001		0	False		,,,				2504	0				Ovarian(171;276 1987 3319 6837 11197)											0			3											92	94	93					3																	156395504		2203	4300	6503	157878198	SO:0001819	synonymous_variant	25976			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.18C>T	3.37:g.156395504C>T			157878198	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	37	CCDS3177.1																																																																																				0.448	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		T	156395504	C	T	156395504	2	4	362	1	0	0	0	0	0	0	0	1	15924	639	23	1		1	TIPARP	3	156395504	Silent	SNP	C	TCGA-30-1714-01A-02W-0633-09	18181585	156395504	41626926	23	19855											
ZNF366	167465	genome.wustl.edu	37	5	71739940	71739940	+	Nonsense_Mutation	SNP	G	G	T	rs373642159		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr5:71739940G>T	ENST00000318442.5	-	5	2368	c.1878C>A	c.(1876-1878)taC>taA	p.Y626*	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	626	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTCCACCTCGTAGCAGTTAT	0.667																																																0			5											94	108	103					5																	71739940		2203	4300	6503	71775696	SO:0001587	stop_gained	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1878C>A	5.37:g.71739940G>T	ENSP00000313158:p.Tyr626*		71775696	Q5HYI9|Q7RTV4	Nonsense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	39	7.313387	0.98203	.	.	ENSG00000178175	ENST00000318442	.	.	.	5.78	-7.21	0.01490	.	0.868154	0.10255	N	0.696665	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.173	17.8813	0.88841	0.6695:0.0:0.3305:0.0	.	.	.	.	X	626	.	ENSP00000313158:Y626X	Y	-	3	2	ZNF366	71775696	0.385000	0.25172	0.000000	0.03702	0.206000	0.24218	-0.180000	0.09754	-1.491000	0.01840	-0.136000	0.14681	TAC		0.667	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			T	71739940	G	T	71739940	4	4	362	1	0	0	0	0	0	1	0	0	17870	1140	40	3	360	3	ZNF366	5	71739940	Nonsense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09		71739940	109175320	24	19856											
RASA1	5921	genome.wustl.edu	37	5	86681167	86681167	+	Silent	SNP	T	T	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr5:86681167T>G	ENST00000274376.6	+	22	3372	c.2808T>G	c.(2806-2808)tcT>tcG	p.S936S	RASA1_ENST00000506290.1_Silent_p.S770S|RASA1_ENST00000512763.1_Silent_p.S769S|RASA1_ENST00000456692.2_Silent_p.S759S	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	936	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGGCTAAATCTGTGCAGAACT	0.363																																																0			5											120	107	111					5																	86681167		2203	4300	6503	86716923	SO:0001819	synonymous_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2808T>G	5.37:g.86681167T>G			86716923	B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	CCDS34200.1																																																																																				0.363	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		G	86681167	T	G	86681167	2	3	362	1	0	0	0	0	0	0	0	1	13063	1567	55	5		5	RASA1	5	86681167	Silent	SNP	T	TCGA-30-1714-01A-02W-0633-09	14941227	86681167	94234093	25	19857											
ELOVL2	54898	genome.wustl.edu	37	6	10990048	10990048	+	Missense_Mutation	SNP	G	G	A	rs554486961		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:10990048G>A	ENST00000354666.3	-	7	736	c.653C>T	c.(652-654)aCg>aTg	p.T218M		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	218					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CATGGTGTGCGTGATGGTGAG	0.537													G|||	1	0.000199681	0	0	5008	,	,		17242	0.001		0	False		,,,				2504	0															0			6											97	83	88					6																	10990048		2203	4300	6503	11098034	SO:0001583	missense	54898			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.653C>T	6.37:g.10990048G>A	ENSP00000346693:p.Thr218Met		11098034	Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402113	0.62288	.	.	ENSG00000197977	ENST00000354666	T	0.21734	1.99	5.69	5.69	0.88448	.	0.378221	0.25178	N	0.032557	T	0.23410	0.0566	M	0.64080	1.96	0.29950	N	0.820345	D	0.55605	0.972	P	0.55055	0.767	T	0.04153	-1.0973	10	0.36615	T	0.2	-22.8475	13.4966	0.61430	0.0805:0.0:0.9195:0.0	.	218	Q9NXB9	ELOV2_HUMAN	M	218	ENSP00000346693:T218M	ENSP00000346693:T218M	T	-	2	0	ELOVL2	11098034	0.317000	0.24589	0.972000	0.41901	0.954000	0.61252	2.173000	0.42472	2.677000	0.91161	0.655000	0.94253	ACG		0.537	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			A	10990048	G	A	10990048	3	1	362	1	0	0	0	0	1	0	0	0	5074	1145	40	1	245	1	ELOVL2	6	10990048	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09		10990048	160125019	26	19858											
C6orf222	389384	genome.wustl.edu	37	6	36298059	36298059	+	Missense_Mutation	SNP	C	C	T	rs74693071	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:36298059C>T	ENST00000437635.2	-	2	586	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	137										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCTGCTGCTTCCAGGGGCTCC	0.617													C|||	192	0.0383387	0.0023	0.2118	5008	,	,		17707	0.0397		0.002	False		,,,				2504	0															0			6						C	LYS/GLU	9,4397	15.5+/-35.6	0,9,2194	73	65	68		409	4.4	0	6	dbSNP_131	68	12,8588	8.4+/-32.0	0,12,4288	yes	missense	C6orf222	NM_001010903.4	56	0,21,6482	TT,TC,CC		0.1395,0.2043,0.1615	probably-damaging	137/653	36298059	21,12985	2203	4300	6503	36406037	SO:0001583	missense	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.409G>A	6.37:g.36298059C>T	ENSP00000418983:p.Glu137Lys		36406037	B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	116	0.05311355311355311	3	0.006097560975609756	80	0.22099447513812154	31	0.05419580419580419	2	0.002638522427440633	C	9.909	1.209077	0.22205	0.002043	0.001395	ENSG00000189325	ENST00000437635	T	0.60920	0.15	4.41	4.41	0.53225	.	0.597834	0.13888	N	0.355817	T	0.66557	0.2801	M	0.75264	2.295	0.80722	P	0.0	D	0.71674	0.998	D	0.64321	0.924	T	0.69621	-0.5096	9	0.66056	D	0.02	-53.333	12.67	0.56862	0.0:1.0:0.0:0.0	.	137	P0C671	CF222_HUMAN	K	137	ENSP00000418983:E137K	ENSP00000418983:E137K	E	-	1	0	C6orf222	36406037	0.009000	0.17119	0.005000	0.12908	0.027000	0.11550	3.032000	0.49736	2.452000	0.82932	0.289000	0.19496	GAA		0.617	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		T	36298059	C	T	36298059	3	4	362	1	0	0	0	0	1	0	0	0	2356	864	30	2	1593	2	C6orf222	6	36298059	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09	25308011	36298059	134817008	27	19859											
DST	667	genome.wustl.edu	37	6	56399919	56399919	+	Splice_Site	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:56399919C>A	ENST00000361203.3	-	59	16316		c.e59+1		DST_ENST00000421834.2_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000370754.5_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000340834.4_Splice_Site|DST_ENST00000312431.6_Splice_Site			Q03001	DYST_HUMAN	dystonin						axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GACTAACTTACCTTTTGTTCT	0.398																																																0			6											160	162	162					6																	56399919		1861	4104	5965	56507878	SO:0001630	splice_region_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16308+1G>T	6.37:g.56399919C>A			56507878	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Splice_Site	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	26.5	4.746418	0.89663	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DST	56507878	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.783000	0.85696	2.814000	0.96858	0.650000	0.86243	.		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	Intron	A	56399919	C	A	56399919	5	1	362	1	0	0	0	0	0	0	1	0	4783	521	18	3	6606	3	DST	6	56399919	Splice_Site	SNP	C	TCGA-30-1714-01A-02W-0633-09	20101860	56399919	114715148	28	19860											
DST	667	genome.wustl.edu	37	6	56504106	56504106	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:56504106A>G	ENST00000361203.3	-	18	2289	c.2282T>C	c.(2281-2283)aTa>aCa	p.I761T	DST_ENST00000421834.2_Missense_Mutation_p.I761T|DST_ENST00000370769.4_Missense_Mutation_p.I761T|DST_ENST00000370754.5_Missense_Mutation_p.I939T|DST_ENST00000518935.1_Missense_Mutation_p.I435T|DST_ENST00000244364.6_Missense_Mutation_p.I435T|DST_ENST00000446842.2_Missense_Mutation_p.I435T|DST_ENST00000370788.2_Missense_Mutation_p.I761T|DST_ENST00000312431.6_Missense_Mutation_p.I761T|DST_ENST00000370765.6_Missense_Mutation_p.I435T			Q03001	DYST_HUMAN	dystonin	761					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTCTGCTATCTCCTGAAC	0.318																																																0			6											126	117	120					6																	56504106		2203	4300	6503	56612065	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2282T>C	6.37:g.56504106A>G	ENSP00000354508:p.Ile761Thr		56612065	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	12.37	1.918767	0.33908	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.62	4.46	0.54185	.	0.000000	0.56097	D	0.000025	T	0.62600	0.2441	N	0.00746	-1.225	0.33464	D	0.585359	P;B;D;B;P;B;B;B;B;B	0.59357	0.455;0.0;0.985;0.001;0.944;0.012;0.031;0.044;0.0;0.004	B;B;P;B;P;B;B;B;B;B	0.57101	0.12;0.008;0.813;0.008;0.585;0.035;0.038;0.194;0.002;0.021	T	0.70963	-0.4729	9	0.02654	T	1	.	11.6183	0.51102	0.9302:0.0:0.0698:0.0	.	790;761;761;939;877;435;435;435;761;435	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	T	435;939;761;761;435;761;761;761;435;801;435;435	ENSP00000244364:I435T;ENSP00000359790:I939T;ENSP00000359805:I761T;ENSP00000400883:I761T;ENSP00000393645:I435T;ENSP00000307959:I761T;ENSP00000359824:I761T;ENSP00000354508:I761T;ENSP00000404924:I435T;ENSP00000431030:I801T;ENSP00000359801:I435T;ENSP00000431003:I435T	ENSP00000244364:I435T	I	-	2	0	DST	56612065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.466000	0.60148	1.062000	0.40625	0.477000	0.44152	ATA		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56504106	A	G	56504106	3	3	362	1	0	0	0	0	1	0	0	0	4783	449	16	4	19159	4	DST	6	56504106	Missense_Mutation	SNP	A	TCGA-30-1714-01A-02W-0633-09	104187	56504106	114610961	29	19861											
AKD1	221264	genome.wustl.edu	37	6	109815288	109815288	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:109815288G>A	ENST00000424296.2	-	40	5505	c.5429C>T	c.(5428-5430)aCt>aTt	p.T1810I	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1810					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AATTAGAGAAGTTGCAATACC	0.373																																																0			6											54	56	56					6																	109815288		2203	4300	6503	109921981	SO:0001583	missense	222521			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5429C>T	6.37:g.109815288G>A	ENSP00000410186:p.Thr1810Ile		109921981	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.227|9.227	1.034949|1.034949	0.19590|0.19590	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000424296	.|T	.|0.65732	.|-0.17	5.49|5.49	4.6|4.6	0.57074|0.57074	.|.	.|0.592917	.|0.19374	.|N	.|0.115838	T|T	0.53318|0.53318	0.1789|0.1789	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46457	.|0.878;0.868	.|B;B	.|0.42112	.|0.376;0.307	T|T	0.59129|0.59129	-0.7512|-0.7512	5|9	.|.	.|.	.|.	.|.	15.4282|15.4282	0.75072|0.75072	0.0:0.0:0.86:0.14|0.0:0.0:0.86:0.14	.|.	.|195;1810	.|B7ZL24;Q5TCS8	.|.;AKD1_HUMAN	F|I	648|1810	.|ENSP00000410186:T1810I	.|.	L|T	-|-	1|2	0|0	AKD1|AKD1	109921981|109921981	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.235000|0.235000	0.25334|0.25334	3.259000|3.259000	0.51515|0.51515	1.270000|1.270000	0.44297|0.44297	0.650000|0.650000	0.86243|0.86243	CTT|ACT		0.373	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		A	109815288	G	A	109815288	3	1	362	1	0	0	0	0	1	0	0	0	460	1029	36	2	314	2	AKD1	6	109815288	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	53311182	109815288	61299779	30	19862											
TSPYL1	7259	genome.wustl.edu	37	6	116599937	116599937	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:116599937T>A	ENST00000368608.3	-	1	1129	c.1057A>T	c.(1057-1059)Act>Tct	p.T353S	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000540275.1_Intron|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	353					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ATAATTGGAGTAGAAAGAGAC	0.468																																																0			6											98	105	102					6																	116599937		2203	4300	6503	116706630	SO:0001583	missense	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.1057A>T	6.37:g.116599937T>A	ENSP00000357597:p.Thr353Ser		116706630	O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184718	0.78677	.	.	ENSG00000189241	ENST00000368608	T	0.35973	1.28	4.32	4.32	0.51571	.	0.000000	0.38111	N	0.001817	T	0.36963	0.0986	L	0.60012	1.86	0.43226	D	0.995118	P	0.41597	0.756	P	0.53988	0.739	T	0.22452	-1.0216	10	0.56958	D	0.05	-14.2794	10.1619	0.42858	0.0:0.0:0.0:1.0	.	353	Q9H0U9	TSYL1_HUMAN	S	353	ENSP00000357597:T353S	ENSP00000357597:T353S	T	-	1	0	TSPYL1	116706630	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	3.946000	0.56644	2.175000	0.68902	0.459000	0.35465	ACT		0.468	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			A	116599937	T	A	116599937	3	1	362	1	0	0	0	0	1	0	0	0	16659	1638	57	5	260	5	TSPYL1	6	116599937	Missense_Mutation	SNP	T	TCGA-30-1714-01A-02W-0633-09	6784649	116599937	54515130	31	19863											
LPA	4018	genome.wustl.edu	37	6	161027559	161027559	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:161027559G>A	ENST00000316300.5	-	17	2779	c.2735C>T	c.(2734-2736)gCg>gTg	p.A912V	LPA_ENST00000447678.1_Missense_Mutation_p.A912V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3420	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.A912V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTTGGAGGCGCGACGGCAGT	0.537																																																1	Substitution - Missense(1)	large_intestine(1)	6											101	105	104					6																	161027559		2051	4248	6299	160947549	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2735C>T	6.37:g.161027559G>A	ENSP00000321334:p.Ala912Val		160947549	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.17	1.276915	0.23307	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61274	0.12;0.12	2.18	-4.36	0.03645	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.18593	0.0446	L	0.42245	1.32	0.09310	N	1	D	0.58620	0.983	B	0.38985	0.287	T	0.08249	-1.0731	9	0.36615	T	0.2	.	4.1326	0.10156	0.0:0.2071:0.3159:0.4769	.	3420	P08519	APOA_HUMAN	V	912	ENSP00000321334:A912V;ENSP00000395608:A912V	ENSP00000321334:A912V	A	-	2	0	LPA	160947549	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.202000	0.03023	-1.481000	0.01863	0.184000	0.17185	GCG		0.537	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		A	161027559	G	A	161027559	3	1	362	1	0	0	0	0	1	0	0	0	8903	1087	38	1	3479	1	LPA	6	161027559	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	44427622	161027559	10087508	32	19864											
TBRG4	9238	genome.wustl.edu	37	7	45141202	45141202	+	Missense_Mutation	SNP	G	G	T	rs368230316		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr7:45141202G>T	ENST00000258770.3	-	9	1700	c.1579C>A	c.(1579-1581)Ctg>Atg	p.L527M	TBRG4_ENST00000395655.4_Missense_Mutation_p.L417M|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000361278.3_Missense_Mutation_p.L417M|TBRG4_ENST00000494076.1_Missense_Mutation_p.L527M	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	527					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CTGTCCAGCAGCACCTCAGCA	0.582																																																0			7											50	48	49					7																	45141202		2203	4300	6503	45107727	SO:0001583	missense	9238			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.1579C>A	7.37:g.45141202G>T	ENSP00000258770:p.Leu527Met		45107727	A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	CCDS5501.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.18|19.18	3.776802|3.776802	0.70107|0.70107	.|.	.|.	ENSG00000136270|ENSG00000136270	ENST00000483615|ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	4.79|4.79	1.77|1.77	0.24775|0.24775	.|FAST kinase-like protein, subdomain 2 (1);	.|0.153604	.|0.42964	.|D	.|0.000625	T|T	0.53769|0.53769	0.1817|0.1817	L|L	0.57536|0.57536	1.79|1.79	0.36725|0.36725	D|D	0.881387|0.881387	.|D;D;P	.|0.59357	.|0.975;0.985;0.722	.|P;P;P	.|0.61397	.|0.888;0.822;0.497	T|T	0.59144|0.59144	-0.7509|-0.7509	5|10	.|0.27082	.|T	.|0.32	.|.	14.5985|14.5985	0.68424|0.68424	0.0:0.6437:0.3563:0.0|0.0:0.6437:0.3563:0.0	.|.	.|538;417;527	.|B4DU42;Q969Z0-2;Q969Z0	.|.;.;TBRG4_HUMAN	D|M	241|527;417;417;527	.|ENSP00000258770:L527M;ENSP00000354992:L417M;ENSP00000379016:L417M;ENSP00000420597:L527M	.|ENSP00000258770:L527M	A|L	-|-	2|1	0|2	TBRG4|TBRG4	45107727|45107727	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.448000|0.448000	0.21726|0.21726	0.579000|0.579000	0.29504|0.29504	0.591000|0.591000	0.81541|0.81541	GCT|CTG		0.582	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		T	45141202	G	T	45141202	3	4	362	1	0	0	0	0	1	0	0	0	15649	962	34	3	328	3	TBRG4	7	45141202	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09		45141202	113997461	33	19865											
ABCA13	154664	genome.wustl.edu	37	7	48315557	48315557	+	Silent	SNP	T	T	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr7:48315557T>G	ENST00000435803.1	+	17	6318	c.6294T>G	c.(6292-6294)acT>acG	p.T2098T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2098					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAAGATAACTTTGCAGTTTG	0.353																																																0			7											38	37	37					7																	48315557		1806	4057	5863	48286103	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6294T>G	7.37:g.48315557T>G			48286103	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48315557	T	G	48315557	2	3	362	1	0	0	0	0	0	0	0	1	31	1596	56	5		5	ABCA13	7	48315557	Silent	SNP	T	TCGA-30-1714-01A-02W-0633-09	3174355	48315557	110823106	34	19866											
WDR91	29062	genome.wustl.edu	37	7	134893552	134893552	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr7:134893552G>T	ENST00000354475.4	-	3	533	c.502C>A	c.(502-504)Cag>Aag	p.Q168K	WDR91_ENST00000423565.1_Missense_Mutation_p.Q133K|WDR91_ENST00000344400.5_Missense_Mutation_p.Q168K|WDR91_ENST00000485942.1_5'Flank	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	168										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGCATGCACTGAAACAGGACG	0.562																																																0			7											79	66	71					7																	134893552		2203	4300	6503	134544092	SO:0001583	missense	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.502C>A	7.37:g.134893552G>T	ENSP00000346466:p.Gln168Lys		134544092	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538817	0.65085	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91686	-2.89;-2.89;-2.89	5.77	4.88	0.63580	.	0.338611	0.36482	N	0.002561	D	0.90903	0.7141	L	0.61387	1.9	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	D	0.87676	0.2544	10	0.38643	T	0.18	-12.8573	17.3249	0.87244	0.0:0.1251:0.8749:0.0	.	168	A4D1P6	WDR91_HUMAN	K	168;168;133	ENSP00000340877:Q168K;ENSP00000346466:Q168K;ENSP00000392555:Q133K	ENSP00000340877:Q168K	Q	-	1	0	WDR91	134544092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.898000	0.87363	1.552000	0.49463	0.650000	0.86243	CAG		0.562	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		T	134893552	G	T	134893552	3	4	362	1	0	0	0	0	1	0	0	0	17338	1299	45	3	1793	3	WDR91	7	134893552	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	86577995	134893552	24245111	35	19867											
DOK2	9046	genome.wustl.edu	37	8	21767223	21767223	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr8:21767223G>T	ENST00000276420.4	-	5	1096	c.838C>A	c.(838-840)Ccg>Acg	p.P280T	DOK2_ENST00000544659.1_Missense_Mutation_p.P126T	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	280	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGTGAAGGCGGCGGCAGTGAG	0.687																																																0			8											43	50	48					8																	21767223		2203	4299	6502	21823169	SO:0001583	missense	9046			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.838C>A	8.37:g.21767223G>T	ENSP00000276420:p.Pro280Thr		21823169	Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	G	7.096	0.573043	0.13623	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197	T;T;T	0.44881	1.84;1.41;0.91	5.42	3.14	0.36123	.	0.069184	0.56097	D	0.000027	T	0.36220	0.0959	M	0.68317	2.08	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.16289	0.015;0.015	T	0.35992	-0.9766	10	0.48119	T	0.1	-17.876	4.354	0.11169	0.2453:0.1769:0.5778:0.0	.	280;280	O60496;A8K7W1	DOK2_HUMAN;.	T	280;126;126	ENSP00000276420:P280T;ENSP00000443602:P126T;ENSP00000430729:P126T	ENSP00000276420:P280T	P	-	1	0	DOK2	21823169	0.691000	0.27709	0.000000	0.03702	0.002000	0.02628	2.488000	0.45276	0.377000	0.24735	0.655000	0.94253	CCG		0.687	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		T	21767223	G	T	21767223	3	4	362	1	0	0	0	0	1	0	0	0	4697	1203	42	3	404	3	DOK2	8	21767223	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09		21767223	124596799	36	19868											
FLJ43860	389690	genome.wustl.edu	37	8	142446793	142446795	+	RNA	DEL	AAG	AAG	-	rs564410242		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	AAG	AAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr8:142446793_142446795delAAG	ENST00000606664.1	+	0	2149_2151				MROH5_ENST00000430863.1_RNA																							CACGTCATTAAAGAAGGAGCGTG	0.655																																																0			8								2,4040		1,0,2020						-1	0.6			24	7,8037		1,5,4016	no	coding	FLJ43860	NM_207414.2		2,5,6036	A1A1,A1R,RR		0.087,0.0495,0.0745				9,12077				142515977			389690																															8.37:g.142446796_142446798delAAG			142515975		In_Frame_Del	DEL	ENST00000606664.1	37																																																																																					0.655	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			-	142446795	AAG	-	142446793	6	5	362	0	1	1	0	1	0	0	0	0	5930	14	1	0		0	FLJ43860	8	142446793	RNA	DEL	AAG	TCGA-30-1714-01A-02W-0633-09	120679570	142446793	3917229	37	19869											
C9orf72	203228	genome.wustl.edu	37	9	27548644	27548644	+	Silent	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr9:27548644G>A	ENST00000380003.3	-	10	1233	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	390					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TGAGAGATAAGCCAGGTTTCA	0.393																																																0			9											81	78	79					9																	27548644		2203	4300	6503	27538644	SO:0001819	synonymous_variant	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1170C>T	9.37:g.27548644G>A			27538644	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	CCDS6522.1																																																																																				0.393	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		A	27548644	G	A	27548644	2	1	362	1	0	0	0	0	0	0	0	1	2495	958	34	2		2	C9orf72	9	27548644	Silent	SNP	G	TCGA-30-1714-01A-02W-0633-09		27548644	113664787	38	19870											
GSN	2934	genome.wustl.edu	37	9	124089748	124089748	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr9:124089748G>A	ENST00000373818.4	+	13	1972	c.1903G>A	c.(1903-1905)Ggc>Agc	p.G635S	GSN_ENST00000436847.1_Missense_Mutation_p.G595S|GSN_ENST00000412819.1_Missense_Mutation_p.G584S|GSN_ENST00000373807.1_Missense_Mutation_p.G366S|GSN_ENST00000341272.2_Missense_Mutation_p.G584S|GSN_ENST00000545652.1_Missense_Mutation_p.G592S|GSN_ENST00000449733.1_Missense_Mutation_p.G584S|GSN_ENST00000373808.2_Missense_Mutation_p.G584S|GSN_ENST00000373806.1_Missense_Mutation_p.G60S|GSN_ENST00000394353.2_Missense_Mutation_p.G595S|GSN_ENST00000373823.3_Missense_Mutation_p.G584S	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	635	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTGGCAGAAGGCAGCGAGCC	0.647																																																0			9											11	13	13					9																	124089748		2196	4282	6478	123129569	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1903G>A	9.37:g.124089748G>A	ENSP00000362924:p.Gly635Ser		123129569	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193452	0.94960	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.86	4.97	0.65823	Gelsolin domain (1);	0.046742	0.85682	D	0.000000	T	0.72104	0.3419	M	0.90922	3.16	0.80722	D	1	D;D;D;P;D	0.89917	0.981;0.999;0.999;0.824;1.0	D;D;D;P;D	0.91635	0.912;0.999;0.994;0.53;0.999	T	0.79722	-0.1684	10	0.59425	D	0.04	-34.4765	16.6754	0.85277	0.0:0.1295:0.8705:0.0	.	608;592;595;366;635	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	S	584;595;595;584;584;584;584;568;558;592;635;366;60;60	ENSP00000362929:G584S;ENSP00000411293:G595S;ENSP00000377882:G595S;ENSP00000409358:G584S;ENSP00000416586:G584S;ENSP00000340888:G584S;ENSP00000362914:G584S;ENSP00000445823:G592S;ENSP00000362924:G635S;ENSP00000362913:G366S;ENSP00000362912:G60S	ENSP00000340888:G584S	G	+	1	0	GSN	123129569	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.974000	0.76122	1.635000	0.50512	-0.133000	0.14855	GGC		0.647	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		A	124089748	G	A	124089748	3	1	362	1	0	0	0	0	1	0	0	0	6825	1000	35	2	1981	2	GSN	9	124089748	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	96541104	124089748	17123683	39	19871											
OR51B6	390058	genome.wustl.edu	37	11	5373332	5373332	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr11:5373332G>A	ENST00000380219.1	+	1	595	c.595G>A	c.(595-597)Gta>Ata	p.V199I	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	199					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATCCAGTTGTAGTTTTATT	0.433																																																0			11											240	215	224					11																	5373332		2201	4297	6498	5329908	SO:0001583	missense	390058				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.595G>A	11.37:g.5373332G>A	ENSP00000369568:p.Val199Ile		5329908		Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	G	0.265	-0.997175	0.02145	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00174	8.62	5.15	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.286793	0.24669	N	0.036568	T	0.00109	0.0003	N	0.12502	0.225	0.09310	N	1	B	0.15473	0.013	B	0.24269	0.052	T	0.06862	-1.0803	10	0.20519	T	0.43	.	7.6733	0.28471	0.0912:0.0:0.7487:0.1601	.	199	Q9H340	O51B6_HUMAN	I	198;199	ENSP00000369568:V199I	ENSP00000369568:V199I	V	+	1	0	OR51B6	5329908	0.000000	0.05858	0.974000	0.42286	0.318000	0.28184	0.605000	0.24179	1.330000	0.45394	0.557000	0.71058	GTA		0.433	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		A	5373332	G	A	5373332	3	1	362	1	0	0	0	0	1	0	0	0	11092	1377	48	2	597	2	OR51B6	11	5373332	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09		5373332	129633184	40	19872											
SLC43A3	29015	genome.wustl.edu	37	11	57193099	57193099	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr11:57193099C>T	ENST00000395123.2	-	4	533	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Missense_Mutation_p.G77R|SLC43A3_ENST00000352187.1_Missense_Mutation_p.G77R|SLC43A3_ENST00000533524.1_Missense_Mutation_p.G90R|SLC43A3_ENST00000395124.1_Missense_Mutation_p.G77R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	77					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATGAAGGACCCCAGGGTGAAG	0.522																																																0			11											113	101	105					11																	57193099		2201	4296	6497	56949675	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.229G>A	11.37:g.57193099C>T	ENSP00000378555:p.Gly77Arg		56949675	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827242	0.71143	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005;ENST00000529113;ENST00000525474;ENST00000529112;ENST00000528187;ENST00000529494;ENST00000533245;ENST00000533235;ENST00000524863;ENST00000532795;ENST00000533051	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);	0.202813	0.41294	D	0.000905	D	0.83188	0.5200	M	0.64997	1.995	0.45415	D	0.998393	P;P;P	0.40619	0.687;0.589;0.724	P;P;P	0.46275	0.51;0.46;0.46	D	0.85335	0.1092	10	0.72032	D	0.01	-6.9785	16.4528	0.83997	0.0:1.0:0.0:0.0	.	77;90;77	B4DV87;E7EQD2;Q8NBI5	.;.;S43A3_HUMAN	R	77;77;77;77;90;77;24;77;77;90;77;77;77;77;77;77	ENSP00000378555:G77R;ENSP00000378556:G77R;ENSP00000337561:G77R;ENSP00000436254:G77R;ENSP00000434515:G90R;ENSP00000435893:G77R;ENSP00000434293:G24R;ENSP00000436055:G77R;ENSP00000434913:G77R;ENSP00000435273:G90R;ENSP00000433974:G77R;ENSP00000431762:G77R;ENSP00000435156:G77R;ENSP00000434569:G77R;ENSP00000435109:G77R;ENSP00000435490:G77R	ENSP00000337561:G77R	G	-	1	0	SLC43A3	56949675	1.000000	0.71417	0.972000	0.41901	0.129000	0.20672	6.202000	0.72131	2.405000	0.81733	0.561000	0.74099	GGG		0.522	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		T	57193099	C	T	57193099	3	4	362	1	0	0	0	0	1	0	0	0	14637	623	22	2	1290	2	SLC43A3	11	57193099	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09	51819767	57193099	77813417	41	19873											
NRXN2	9379	genome.wustl.edu	37	11	64428402	64428402	+	Missense_Mutation	SNP	G	G	T	rs576418675	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr11:64428402G>T	ENST00000377551.1	-	9	2219	c.2008C>A	c.(2008-2010)Ctc>Atc	p.L670I	NRXN2_ENST00000377559.3_Missense_Mutation_p.L639I|NRXN2_ENST00000265459.6_Missense_Mutation_p.L670I|NRXN2_ENST00000409571.1_Missense_Mutation_p.L663I|NRXN2_ENST00000496291.1_5'UTR|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	670	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGGCCCCGGAGGTCTCGGCTA	0.682													G|||	2	0.000399361	0	0	5008	,	,		17359	0		0	False		,,,				2504	0.002															0			11											37	37	37					11																	64428402		2201	4297	6498	64184978	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2008C>A	11.37:g.64428402G>T	ENSP00000366774:p.Leu670Ile		64184978	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	2.883	-0.231336	0.05983	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.52	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.186657	0.23517	U	0.047339	T	0.49201	0.1543	N	0.11106	0.095	0.37290	D	0.908215	B;B;B	0.15930	0.002;0.015;0.009	B;B;B	0.15484	0.013;0.01;0.009	T	0.49418	-0.8942	10	0.02654	T	1	.	9.9422	0.41587	0.0:0.0:0.7974:0.2026	.	639;670;416	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	I	670;639;670;639;663	ENSP00000366774:L670I;ENSP00000366782:L639I;ENSP00000265459:L670I;ENSP00000386416:L663I	ENSP00000265459:L670I	L	-	1	0	NRXN2	64184978	0.995000	0.38212	0.999000	0.59377	0.962000	0.63368	0.351000	0.20096	2.355000	0.79922	0.555000	0.69702	CTC		0.682	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		T	64428402	G	T	64428402	3	4	362	1	0	0	0	0	1	0	0	0	10666	1000	35	3	3455	3	NRXN2	11	64428402	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	7235303	64428402	70578114	42	19874											
NCKAP1L	3071	genome.wustl.edu	37	12	54893228	54893228	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr12:54893228C>A	ENST00000293373.6	+	2	271	c.192C>A	c.(190-192)aaC>aaA	p.N64K	RP11-753H16.3_ENST00000550474.1_RNA|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N14K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	64					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATTTCCCAACATAGATGTCC	0.423																																																0			12											125	118	120					12																	54893228		2203	4300	6503	53179495	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.192C>A	12.37:g.54893228C>A	ENSP00000293373:p.Asn64Lys		53179495	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111416	0.56398	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.27557	1.66;1.66	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.74881	2.28	0.46376	D	0.99901	P	0.48089	0.905	P	0.47118	0.538	T	0.13308	-1.0514	10	0.20046	T	0.44	-11.4592	10.0394	0.42148	0.0:0.9086:0.0:0.0914	.	64	P55160	NCKPL_HUMAN	K	64;14	ENSP00000293373:N64K;ENSP00000445596:N14K	ENSP00000293373:N64K	N	+	3	2	NCKAP1L	53179495	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.183000	0.50918	2.500000	0.84329	0.467000	0.42956	AAC		0.423	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		A	54893228	C	A	54893228	3	1	362	1	0	0	0	0	1	0	0	0	10222	477	17	3	198	3	NCKAP1L	12	54893228	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09		54893228	78958667	43	19875											
CEP290	80184	genome.wustl.edu	37	12	88456492	88456492	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr12:88456492G>A	ENST00000552810.1	-	46	6677	c.6334C>T	c.(6334-6336)Cgg>Tgg	p.R2112W	CEP290_ENST00000309041.7_Missense_Mutation_p.R2114W|CEP290_ENST00000397838.3_Missense_Mutation_p.R1172W|CEP290_ENST00000547691.2_Missense_Mutation_p.R1172W	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2112					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CCAAGTTTCCGCTGAACTTCT	0.328																																																0			12											126	114	118					12																	88456492		1863	4102	5965	86980623	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.6334C>T	12.37:g.88456492G>A	ENSP00000448012:p.Arg2112Trp		86980623	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285700	0.59867	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.68624	0.29;-0.34;-0.34;0.29	5.93	1.54	0.23209	.	0.105906	0.64402	D	0.000012	T	0.75376	0.3841	L	0.57536	1.79	0.33573	D	0.598905	D	0.76494	0.999	P	0.61722	0.893	D	0.83514	0.0082	10	0.72032	D	0.01	.	15.6663	0.77234	0.0:0.0:0.5281:0.4719	.	2112	O15078	CE290_HUMAN	W	1172;2112;2114;1172	ENSP00000446905:R1172W;ENSP00000448012:R2112W;ENSP00000308021:R2114W;ENSP00000380938:R1172W	ENSP00000308021:R2114W	R	-	1	2	CEP290	86980623	0.606000	0.26949	0.927000	0.36925	0.791000	0.44710	0.800000	0.27042	0.381000	0.24851	-0.182000	0.12963	CGG		0.328	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		A	88456492	G	A	88456492	3	1	362	1	0	0	0	0	1	0	0	0	3253	1086	38	1	1141	1	CEP290	12	88456492	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	33563264	88456492	45395403	44	19876											
SLC5A8	160728	genome.wustl.edu	37	12	101560305	101560305	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr12:101560305G>C	ENST00000536262.2	-	12	2051	c.1493C>G	c.(1492-1494)aCt>aGt	p.T498S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AACACTAGTAGTAAATGGCAT	0.343																																					GBM(60;420 1056 13605 22380 47675)											0			12											107	101	103					12																	101560305		2203	4300	6503	100084436	SO:0001583	missense	160728			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1493C>G	12.37:g.101560305G>C	ENSP00000445340:p.Thr498Ser		100084436		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.307449	0.01342	.	.	ENSG00000256870	ENST00000536262	D	0.85702	-2.02	5.24	3.36	0.38483	.	0.700866	0.13280	N	0.399811	T	0.64249	0.2581	N	0.04132	-0.27	0.28254	N	0.925146	B	0.02656	0.0	B	0.01281	0.0	T	0.52924	-0.8510	10	0.13108	T	0.6	.	5.6822	0.17782	0.0982:0.0:0.7063:0.1955	.	498	Q8N695	SC5A8_HUMAN	S	498	ENSP00000445340:T498S	ENSP00000445340:T498S	T	-	2	0	SLC5A8	100084436	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	2.372000	0.44257	1.162000	0.42619	0.655000	0.94253	ACT		0.343	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		C	101560305	G	C	101560305	3	2	362	1	0	0	0	0	1	0	0	0	14674	1029	36	3	355	3	SLC5A8	12	101560305	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09	13103813	101560305	32291590	45	19877											
PDS5B	23047	genome.wustl.edu	37	13	33344523	33344523	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr13:33344523C>G	ENST00000315596.10	+	32	4075	c.3889C>G	c.(3889-3891)Ctt>Gtt	p.L1297V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1297					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ACCAAAACCTCTTGGTGGAGG	0.423																																																0			13											49	49	49					13																	33344523		1823	4070	5893	32242523	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3889C>G	13.37:g.33344523C>G	ENSP00000313851:p.Leu1297Val		32242523	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	8.868	0.948477	0.18356	.	.	ENSG00000083642	ENST00000315596;ENST00000447833	.	.	.	6.08	3.11	0.35812	AT hook, DNA-binding motif (1);	0.492316	0.20955	N	0.082678	T	0.21590	0.0520	N	0.08118	0	0.24636	N	0.993593	B	0.16802	0.019	B	0.17722	0.019	T	0.14227	-1.0480	9	0.29301	T	0.29	-1.036	9.912	0.41411	0.2104:0.3089:0.4807:0.0	.	1297	Q9NTI5	PDS5B_HUMAN	V	1297;249	.	ENSP00000313851:L1297V	L	+	1	0	PDS5B	32242523	0.996000	0.38824	0.941000	0.38009	0.934000	0.57294	1.505000	0.35736	1.537000	0.49254	0.591000	0.81541	CTT		0.423	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		G	33344523	C	G	33344523	3	3	362	1	0	0	0	0	1	0	0	0	11692	913	32	3	4011	3	PDS5B	13	33344523	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09		33344523	81825355	46	19878											
SLC15A1	6564	genome.wustl.edu	37	13	99362120	99362120	+	Splice_Site	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr13:99362120C>T	ENST00000376503.5	-	12	1001		c.e12+1			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GTCAAACTTACGATTTTCCCG	0.378																																																0			13											114	112	113					13																	99362120		2203	4300	6503	98160121	SO:0001630	splice_region_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.945+1G>A	13.37:g.99362120C>T			98160121	Q5VW82	Splice_Site	SNP	ENST00000376503.5	37	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465195	0.63513	.	.	ENSG00000088386	ENST00000376503	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2541	0.87050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC15A1	98160121	1.000000	0.71417	0.999000	0.59377	0.524000	0.34500	6.970000	0.76099	2.667000	0.90743	0.561000	0.74099	.		0.378	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	Intron	T	99362120	C	T	99362120	5	4	362	1	0	0	0	0	0	0	1	0	14401	550	19	1	1228	1	SLC15A1	13	99362120	Splice_Site	SNP	C	TCGA-30-1714-01A-02W-0633-09	66017597	99362120	15807758	47	19879											
TEP1	7011	genome.wustl.edu	37	14	20851397	20851397	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr14:20851397C>T	ENST00000262715.5	-	27	4023	c.3983G>A	c.(3982-3984)cGg>cAg	p.R1328Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1220Q|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1328	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTCACCAGCCGGGCCCGAGC	0.657																																																0			14											29	33	32					14																	20851397		2203	4299	6502	19921237	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3983G>A	14.37:g.20851397C>T	ENSP00000262715:p.Arg1328Gln		19921237	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	5.849	0.340761	0.11069	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.80033	-1.33;-1.33	5.63	-5.09	0.02920	NACHT nucleoside triphosphatase (1);	0.664088	0.15411	N	0.263781	T	0.49508	0.1561	N	0.03177	-0.4	0.80722	D	1	B;B;B	0.14438	0.008;0.003;0.01	B;B;B	0.09377	0.002;0.002;0.004	T	0.45396	-0.9264	10	0.05833	T	0.94	-2.8632	11.0611	0.47948	0.0:0.2166:0.088:0.6954	.	1220;678;1328	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1328;1328;1220	ENSP00000262715:R1328Q;ENSP00000452574:R1220Q	ENSP00000262715:R1328Q	R	-	2	0	TEP1	19921237	0.342000	0.24809	0.954000	0.39281	0.956000	0.61745	-0.671000	0.05250	-0.820000	0.04318	-0.302000	0.09304	CGG		0.657	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20851397	C	T	20851397	3	4	362	1	0	0	0	0	1	0	0	0	15759	652	23	1	4016	1	TEP1	14	20851397	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09		20851397	86498143	48	19880											
EVL	51466	genome.wustl.edu	37	14	100563987	100563989	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	AAG	AAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr14:100563987_100563989delAAG	ENST00000402714.2	+	3	948_950	c.344_346delAAG	c.(343-348)caagaa>caa	p.E116del	EVL_ENST00000544450.2_In_Frame_Del_p.E122del|EVL_ENST00000392920.3_In_Frame_Del_p.E118del|EVL_ENST00000555048.1_3'UTR			Q9UI08	EVL_HUMAN	Enah/Vasp-like	116					actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				ATGAATTCCCAAGAAGGAGGTAA	0.522																																																0			14																																								99633742	SO:0001651	inframe_deletion	51466			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.344_346delAAG	14.37:g.100563990_100563992delAAG	ENSP00000384720:p.Glu116del		99633740	A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	In_Frame_Del	DEL	ENST00000402714.2	37																																																																																					0.522	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			-	100563989	AAG	-	100563987	7	5	362	1	0	1	0	1	0	0	0	0	5291	130	5	0	360	0	EVL	14	100563987	In_Frame_Del	DEL	AAG	TCGA-30-1714-01A-02W-0633-09	79712590	100563987	6785553	49	19881											
GATM	2628	genome.wustl.edu	37	15	45658648	45658648	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr15:45658648A>G	ENST00000396659.3	-	5	1073	c.734T>C	c.(733-735)gTg>gCg	p.V245A	GATM_ENST00000558336.1_Missense_Mutation_p.V245A	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	245					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	CTCAGTTGTCACAAATTTTCC	0.448																																																0			15											82	77	78					15																	45658648		2198	4298	6496	43445940	SO:0001583	missense	2628			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.734T>C	15.37:g.45658648A>G	ENSP00000379895:p.Val245Ala		43445940	B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320584	0.81469	.	.	ENSG00000171766	ENST00000396659	T	0.42513	0.97	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70487	0.969;0.932	T	0.52873	-0.8517	10	0.41790	T	0.15	-13.2087	13.7457	0.62874	1.0:0.0:0.0:0.0	.	245;245	P50440-3;P50440	.;GATM_HUMAN	A	245	ENSP00000379895:V245A	ENSP00000379895:V245A	V	-	2	0	GATM	43445940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.619000	0.90938	2.126000	0.65437	0.533000	0.62120	GTG		0.448	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		G	45658648	A	G	45658648	3	3	362	1	0	0	0	0	1	0	0	0	6263	159	6	4	557	4	GATM	15	45658648	Missense_Mutation	SNP	A	TCGA-30-1714-01A-02W-0633-09		45658648	56872744	50	19882											
TNFAIP8L3	388121	genome.wustl.edu	37	15	51350426	51350426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr15:51350426delC	ENST00000327536.5	-	3	630	c.531delG	c.(529-531)gggfs	p.G177fs	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	177										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GGTAGAGGATCCCGATTTTGA	0.468																																																0			15											288	227	247					15																	51350426		2196	4293	6489	49137718	SO:0001589	frameshift_variant	388121			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.531delG	15.37:g.51350426delC	ENSP00000328016:p.Gly177fs		49137718	Q6ZWD1	Frame_Shift_Del	DEL	ENST00000327536.5	37	CCDS32241.1																																																																																				0.468	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		-	51350426	C	-	51350426	7	5	362	1	0	1	0	1	0	0	0	0	16279	842	30	0	351	0	TNFAIP8L3	15	51350426	Frame_Shift_Del	DEL	C	TCGA-30-1714-01A-02W-0633-09	5691778	51350426	51180966	51	19883											
ABCC11	85320	genome.wustl.edu	37	16	48264374	48264374	+	Silent	SNP	G	G	A	rs368116218		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr16:48264374G>A	ENST00000394747.1	-	2	559	c.210C>T	c.(208-210)acC>acT	p.T70T	ABCC11_ENST00000353782.5_Silent_p.T70T|ABCC11_ENST00000537808.1_Silent_p.T70T|ABCC11_ENST00000394748.1_Silent_p.T70T|ABCC11_ENST00000356608.2_Silent_p.T70T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	70					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGGGAATCATGGTTCTCAAGG	0.592																																																0			16											96	86	90					16																	48264374		2200	4300	6500	46821875	SO:0001819	synonymous_variant	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.210C>T	16.37:g.48264374G>A			46821875	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																				0.592	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48264374	G	A	48264374	2	1	362	1	0	0	0	0	0	0	0	1	51	1335	47	2		2	ABCC11	16	48264374	Silent	SNP	G	TCGA-30-1714-01A-02W-0633-09		48264374	42090379	52	19884											
TP53	7157	genome.wustl.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	rs137852790|rs137852791		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr17:7578478G>C	ENST00000269305.4	-	5	641	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R|TP53_ENST00000420246.2_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000574684.1_5'Flank	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	GCCGGGCGGGGGTGTGGAATC	0.607		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"	90	Substitution - Missense(53)|Deletion - Frameshift(14)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)	lung(17)|large_intestine(13)|ovary(10)|skin(8)|oesophagus(8)|breast(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|urinary_tract(2)|liver(2)|vulva(1)	17											54	55	55					17																	7578478		2203	4300	6503	7519203	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.452C>G	17.37:g.7578478G>C	ENSP00000269305:p.Pro151Arg		7519203	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	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749177	0.49257	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99891	0.9948	M	0.91406	3.205	0.54753	D	0.999985	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.994;0.996;0.991;0.997;0.997;1.0	D	0.96236	0.9172	10	0.87932	D	0	-14.1156	12.4691	0.55777	0.0812:0.0:0.9188:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151R;ENSP00000352610:P151R;ENSP00000269305:P151R;ENSP00000398846:P151R;ENSP00000391127:P151R;ENSP00000391478:P151R;ENSP00000425104:P19R;ENSP00000423862:P58R;ENSP00000424104:P151R	ENSP00000269305:P151R	P	-	2	0	TP53	7519203	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	6.711000	0.74675	1.515000	0.48885	0.655000	0.94253	CCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578478	G	C	7578478	3	2	362	1	0	0	0	0	1	0	0	0	16381	1232	43	3	846	3	TP53	17	7578478	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09		7578478	73616732	53	19885											
NF1	4763	genome.wustl.edu	37	17	29541474	29541475	+	Frame_Shift_Ins	INS	-	-	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr17:29541474_29541475insA	ENST00000358273.4	+	13	1781_1782	c.1398_1399insA	c.(1399-1401)acafs	p.T467fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.T467fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.T467fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	467					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTAGAGTCTTACATTTAAAGA	0.287			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	17	GRCh37	CI001015|CI031910	NF1	I																																				26565601	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1399dupA	17.37:g.29541475_29541475dupA	ENSP00000351015:p.Thr467fs		26565600	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	CCDS42292.1																																																																																				0.287	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29541475	-	A	29541474	7	5	362	1	0	1	1	0	0	0	0	0	10356	1741	61	0	1448	0	NF1	17	29541474	Frame_Shift_Ins	INS	-	TCGA-30-1714-01A-02W-0633-09	21962996	29541474	51653736	54	19886											
UBE2O	63893	genome.wustl.edu	37	17	74394418	74394418	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr17:74394418T>G	ENST00000319380.7	-	12	2007	c.1943A>C	c.(1942-1944)cAc>cCc	p.H648P	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	648					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AAAGTCAGGGTGGTCAGCAAT	0.517											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			17											411	359	377					17																	74394418		2203	4300	6503	71906013	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1943A>C	17.37:g.74394418T>G	ENSP00000323687:p.His648Pro	1152	71906013	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.927665	0.92389	.	.	ENSG00000175931	ENST00000319380	T	0.79749	-1.3	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	M	0.77103	2.36	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	D	0.90890	0.4760	10	0.87932	D	0	-27.103	15.7888	0.78332	0.0:0.0:0.0:1.0	.	648	Q9C0C9	UBE2O_HUMAN	P	648	ENSP00000323687:H648P	ENSP00000323687:H648P	H	-	2	0	UBE2O	71906013	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.008000	0.88588	2.144000	0.66660	0.460000	0.39030	CAC		0.517	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		G	74394418	T	G	74394418	3	3	362	1	0	0	0	0	1	0	0	0	16868	1696	59	5	1963	5	UBE2O	17	74394418	Missense_Mutation	SNP	T	TCGA-30-1714-01A-02W-0633-09	44852944	74394418	6800792	55	19887											
C18orf34	374864	genome.wustl.edu	37	18	30825301	30825301	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr18:30825301C>G	ENST00000383096.3	-	15	1683	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	CCDC178_ENST00000300227.8_Missense_Mutation_p.E501Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.E501Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.E501Q|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.E501Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.E501Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.E501Q			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	501																	CGATAAGCCTCCTTATAGATG	0.318																																																0			18											241	196	211					18																	30825301		2203	4300	6503	29079299	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1501G>C	18.37:g.30825301C>G	ENSP00000372576:p.Glu501Gln		29079299	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	5.779	0.328005	0.10956	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.75	1.86	0.25419	.	.	.	.	.	T	0.19046	0.0457	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.28998	0.23;0.23;0.23;0.23;0.23	B;B;B;B;B	0.27170	0.077;0.077;0.077;0.045;0.045	T	0.25606	-1.0127	9	0.21014	T	0.42	-3.6388	6.7318	0.23387	0.0:0.5389:0.3631:0.098	.	501;501;501;501;501	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	Q	501	ENSP00000385591:E501Q;ENSP00000372576:E501Q;ENSP00000300227:E501Q;ENSP00000385867:E501Q;ENSP00000385234:E501Q	ENSP00000300227:E501Q	E	-	1	0	C18orf34	29079299	0.003000	0.15002	0.011000	0.14972	0.008000	0.06430	0.347000	0.20014	0.272000	0.22027	0.563000	0.77884	GAG		0.318	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		G	30825301	C	G	30825301	3	3	362	1	0	0	0	0	1	0	0	0	1902	864	30	3	1138	3	C18orf34	18	30825301	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09		30825301	47251947	56	19888											
FHOD3	80206	genome.wustl.edu	37	18	34289151	34289151	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr18:34289151C>A	ENST00000359247.4	+	14	1754	c.1754C>A	c.(1753-1755)gCc>gAc	p.A585D	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Missense_Mutation_p.A602D|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.A777D|FHOD3_ENST00000445677.1_Missense_Mutation_p.A564D	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	585					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAGGACATAGCCTCTGCCCAC	0.607																																																0			18											68	80	76					18																	34289151		2203	4300	6503	32543149	SO:0001583	missense	80206			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1754C>A	18.37:g.34289151C>A	ENSP00000352186:p.Ala585Asp		32543149	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	15.59	2.879638	0.51801	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.31247	1.5;1.97;1.97	5.84	3.91	0.45181	.	0.545165	0.18745	N	0.132348	T	0.20292	0.0488	L	0.36672	1.1	0.24654	N	0.993506	P;P;P;P	0.48764	0.465;0.915;0.465;0.79	B;B;B;B	0.39339	0.232;0.297;0.232;0.231	T	0.11842	-1.0571	10	0.38643	T	0.18	.	7.0336	0.24980	0.235:0.6801:0.0:0.0849	.	564;585;602;777	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	D	602;585;564	ENSP00000257209:A602D;ENSP00000352186:A585D;ENSP00000411430:A564D	ENSP00000257209:A602D	A	+	2	0	FHOD3	32543149	0.929000	0.31497	0.549000	0.28204	0.216000	0.24613	1.816000	0.38992	2.760000	0.94817	0.655000	0.94253	GCC		0.607	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		A	34289151	C	A	34289151	3	1	362	1	0	0	0	0	1	0	0	0	5883	739	26	3	1863	3	FHOD3	18	34289151	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09	3463850	34289151	43788097	57	19889											
PIK3C3	5289	genome.wustl.edu	37	18	39623721	39623721	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr18:39623721A>G	ENST00000262039.4	+	20	2214	c.2128A>G	c.(2128-2130)Agt>Ggt	p.S710G	PIK3C3_ENST00000587402.1_Missense_Mutation_p.S57G|PIK3C3_ENST00000398870.3_Missense_Mutation_p.S647G|PIK3C3_ENST00000589056.1_Missense_Mutation_p.S57G|PIK3C3_ENST00000593098.1_Missense_Mutation_p.S195G	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	710	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATATGCACCAAGTGAGAATGG	0.323										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)											0			18											149	139	142					18																	39623721		2203	4300	6503	37877719	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2128A>G	18.37:g.39623721A>G	ENSP00000262039:p.Ser710Gly		37877719	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735218	0.48939	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81908	-1.55;-1.55	5.22	5.22	0.72569	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.197794	0.51477	D	0.000083	T	0.79215	0.4408	L	0.41236	1.265	0.80722	D	1	B;B;P	0.35307	0.016;0.412;0.494	B;B;B	0.39339	0.11;0.257;0.297	T	0.76798	-0.2826	9	.	.	.	.	15.4058	0.74877	1.0:0.0:0.0:0.0	.	647;647;710	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	G	710;647	ENSP00000262039:S710G;ENSP00000381845:S647G	.	S	+	1	0	PIK3C3	37877719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.787000	0.91830	2.105000	0.64084	0.528000	0.53228	AGT		0.323	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		G	39623721	A	G	39623721	3	3	362	1	0	0	0	0	1	0	0	0	11912	72	3	4	2206	4	PIK3C3	18	39623721	Missense_Mutation	SNP	A	TCGA-30-1714-01A-02W-0633-09	5334570	39623721	38453527	58	19890											
MIDN	90007	genome.wustl.edu	37	19	1257190	1257190	+	Silent	SNP	C	C	T	rs150148017	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:1257190C>T	ENST00000591446.2	+	7	1735	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	MIDN_ENST00000300952.2_Silent_p.S442S|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin	442						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGGCCTCCGGCTTGGGCC	0.682													c|||	2	0.000399361	0	0	5008	,	,		11646	0		0.001	False		,,,				2504	0.001															0			19								2,4402		0,2,2200	31	34	33		1326	-4.8	0	19	dbSNP_134	33	10,8580		0,10,4285	no	coding-synonymous	MIDN	NM_177401.4		0,12,6485	TT,TC,CC		0.1164,0.0454,0.0924		442/469	1257190	12,12982	2202	4295	6497	1208190	SO:0001819	synonymous_variant	90007			AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1326C>T	19.37:g.1257190C>T			1208190	Q96BW8	Silent	SNP	ENST00000591446.2	37	CCDS32864.1																																																																																				0.682	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			T	1257190	C	T	1257190	2	4	362	1	0	0	0	0	0	0	0	1	9579	639	23	1		1	MIDN	19	1257190	Silent	SNP	C	TCGA-30-1714-01A-02W-0633-09		1257190	57871793	59	19891											
MAST1	22983	genome.wustl.edu	37	19	12958127	12958127	+	Silent	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:12958127C>T	ENST00000251472.4	+	5	390	c.351C>T	c.(349-351)cgC>cgT	p.R117R	MAST1_ENST00000591495.1_Silent_p.R113R	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCCAGGAGCGCCTTCACCAGC	0.667											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											57	53	54					19																	12958127		2203	4300	6503	12819127	SO:0001819	synonymous_variant	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.351C>T	19.37:g.12958127C>T		683	12819127		Silent	SNP	ENST00000251472.4	37	CCDS32921.1																																																																																				0.667	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		T	12958127	C	T	12958127	2	4	362	1	0	0	0	0	0	0	0	1	9324	726	26	2		2	MAST1	19	12958127	Silent	SNP	C	TCGA-30-1714-01A-02W-0633-09	11700937	12958127	46170856	60	19892											
RYR1	6261	genome.wustl.edu	37	19	38980880	38980880	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:38980880A>T	ENST00000359596.3	+	36	5979	c.5979A>T	c.(5977-5979)agA>agT	p.R1993S	RYR1_ENST00000360985.3_Missense_Mutation_p.R1993S|RYR1_ENST00000355481.4_Missense_Mutation_p.R1993S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1993	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGACTGCAAGACGTACCCGCG	0.582																																																0			19											55	52	53					19																	38980880		2203	4300	6503	43672720	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5979A>T	19.37:g.38980880A>T	ENSP00000352608:p.Arg1993Ser		43672720	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	8.974	0.973582	0.18736	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71579	-0.58;-0.58;-0.58	4.57	-8.63	0.00878	.	0.082818	0.43110	U	0.000603	T	0.65471	0.2694	M	0.85299	2.745	0.22896	N	0.998597	B;B	0.30686	0.29;0.191	B;B	0.32864	0.154;0.073	T	0.56774	-0.7923	10	0.87932	D	0	.	9.6695	0.40004	0.1071:0.192:0.6056:0.0953	.	1993;1993	P21817-2;P21817	.;RYR1_HUMAN	S	1993	ENSP00000352608:R1993S;ENSP00000347667:R1993S;ENSP00000354254:R1993S	ENSP00000347667:R1993S	R	+	3	2	RYR1	43672720	0.000000	0.05858	0.182000	0.23118	0.060000	0.15804	-1.753000	0.01818	-2.058000	0.00895	-0.394000	0.06481	AGA		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38980880	A	T	38980880	3	4	362	1	0	0	0	0	1	0	0	0	13771	272	10	5	6121	5	RYR1	19	38980880	Missense_Mutation	SNP	A	TCGA-30-1714-01A-02W-0633-09	26022753	38980880	20148103	61	19893											
PLA2G4C	8605	genome.wustl.edu	37	19	48556303	48556303	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:48556303C>T	ENST00000599921.1	-	16	1888	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.V511I|AC010458.1_ENST00000408668.1_RNA|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.V511I|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.V521I			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	511	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTTTCCCTGACATTCTTCTTG	0.468																																																0			19											225	175	192					19																	48556303		2203	4300	6503	53248115	SO:0001583	missense	8605			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1531G>A	19.37:g.48556303C>T	ENSP00000469473:p.Val511Ile		53248115	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415024	0.25552	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04360	3.64;3.64	2.99	1.94	0.25998	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.270289	0.26927	U	0.021793	T	0.05640	0.0148	L	0.31065	0.9	0.09310	N	1	P;P	0.48503	0.911;0.888	B;P	0.56612	0.432;0.802	T	0.12041	-1.0563	10	0.02654	T	1	-20.3259	5.9107	0.19027	0.0:0.8464:0.0:0.1536	.	521;511	B4DI40;Q9UP65	.;PA24C_HUMAN	I	511	ENSP00000346228:V511I;ENSP00000400036:V511I	ENSP00000346228:V511I	V	-	1	0	PLA2G4C	53248115	0.195000	0.23338	0.010000	0.14722	0.009000	0.06853	1.150000	0.31639	0.582000	0.29556	0.404000	0.27445	GTC		0.468	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			T	48556303	C	T	48556303	3	4	362	1	0	0	0	0	1	0	0	0	12003	478	17	2	106	2	PLA2G4C	19	48556303	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09	9575423	48556303	10572680	62	19894											
DLGAP4	22839	genome.wustl.edu	37	20	35128054	35128054	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr20:35128054G>A	ENST00000373907.2	+	8	2273	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G692R|DLGAP4_ENST00000340491.4_Missense_Mutation_p.G153R|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	692					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGTCCATCGGGGTTCAGGT	0.592																																																0			20											71	65	67					20																	35128054		2203	4300	6503	34561468	SO:0001583	missense	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2074G>A	20.37:g.35128054G>A	ENSP00000363014:p.Gly692Arg		34561468	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.192937	0.78902	.	.	ENSG00000080845	ENST00000373907;ENST00000339266;ENST00000340491	T;T;T	0.30714	1.52;1.52;1.52	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	.	.	.	0.80722	D	1	P	0.41420	0.749	P	0.48488	0.579	T	0.45279	-0.9272	9	0.87932	D	0	.	17.8279	0.88671	0.0:0.0:1.0:0.0	.	153	Q9Y2H0-3	.	R	692;692;153	ENSP00000363014:G692R;ENSP00000341633:G692R;ENSP00000345700:G153R	ENSP00000341633:G692R	G	+	1	0	DLGAP4	34561468	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.864000	0.99589	2.449000	0.82847	0.650000	0.86243	GGG		0.592	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		A	35128054	G	A	35128054	3	1	362	1	0	0	0	0	1	0	0	0	4562	1116	39	1	2219	1	DLGAP4	20	35128054	Missense_Mutation	SNP	G	TCGA-30-1714-01A-02W-0633-09		35128054	27897466	63	19895											
B4GALT5	9334	genome.wustl.edu	37	20	48273140	48273146	+	Frame_Shift_Del	DEL	GCACTCC	GCACTCC	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	GCACTCC	GCACTCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr20:48273140_48273146delGCACTCC	ENST00000371711.4	-	2	396_402	c.209_215delGGAGTGC	c.(208-216)cggagtgctfs	p.RSA70fs		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	70					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTTGGCATAAGCACTCCGAAGCACCTG	0.464																																																0			20																																								47706553	SO:0001589	frameshift_variant	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.209_215delGGAGTGC	20.37:g.48273140_48273146delGCACTCC	ENSP00000360776:p.Arg70fs		47706547	E1P625|Q2M394|Q9UJQ8	Frame_Shift_Del	DEL	ENST00000371711.4	37	CCDS13420.1																																																																																				0.464	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		-	48273146	GCACTCC	-	48273140	7	5	362	1	0	1	0	1	0	0	0	0	1274	971	34	0	983	0	B4GALT5	20	48273140	Frame_Shift_Del	DEL	GCACTCC	TCGA-30-1714-01A-02W-0633-09	13145086	48273140	14752380	64	19896											
TPTE	7179	genome.wustl.edu	37	21	10944720	10944720	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr21:10944720C>A	ENST00000361285.4	-	11	843	c.514G>T	c.(514-516)Gtt>Ttt	p.V172F	TPTE_ENST00000342420.5_Missense_Mutation_p.V134F|TPTE_ENST00000298232.7_Missense_Mutation_p.V154F|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	172					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACGACATCAACCAGCAGAAGA	0.284																																																0			21											168	176	173					21																	10944720		2203	4299	6502	9966591	SO:0001583	missense	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.514G>T	21.37:g.10944720C>A	ENSP00000355208:p.Val172Phe		9966591	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.36	1.329277	0.24167	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98792	-5.14;-5.14;-5.14	2.31	-3.47	0.04753	Ion transport (1);	0.261021	0.33110	U	0.005273	D	0.97579	0.9207	L	0.39245	1.2	0.27008	N	0.964766	D;P;P	0.59357	0.985;0.69;0.934	D;B;P	0.64237	0.923;0.316;0.583	D	0.95154	0.8275	10	0.87932	D	0	-11.8245	9.4071	0.38469	0.0:0.772:0.0:0.228	.	134;154;172	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	154;172;134	ENSP00000298232:V154F;ENSP00000355208:V172F;ENSP00000344441:V134F	ENSP00000298232:V154F	V	-	1	0	TPTE	9966591	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.509000	0.00447	-1.239000	0.02532	-1.050000	0.02344	GTT		0.284	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			A	10944720	C	A	10944720	3	1	362	1	0	0	0	0	1	0	0	0	16430	507	18	3	1197	3	TPTE	21	10944720	Missense_Mutation	SNP	C	TCGA-30-1714-01A-02W-0633-09		10944720	37185175	65	19897											
KDM6A	7403	genome.wustl.edu	37	X	44937669	44937670	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	TT	TT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrX:44937669_44937670delTT	ENST00000377967.4	+	19	2898_2899	c.2857_2858delTT	c.(2857-2859)tttfs	p.F953fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.F874fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.F960fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.F908fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	953	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGATGCTTTCTTTCCTCCATTA	0.312			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)	X																																								44822614	SO:0001589	frameshift_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2857_2858delTT	X.37:g.44937669_44937670delTT	ENSP00000367203:p.Phe953fs		44822613	Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	CCDS14265.1																																																																																				0.312	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		-	44937670	TT	-	44937669	7	5	362	1	0	1	0	1	0	0	0	0	8137	1609	56	0	2931	0	KDM6A	23	44937669	Frame_Shift_Del	DEL	TT	TCGA-30-1714-01A-02W-0633-09		44937669	110332891	66	19898											
KIAA2022	340533	genome.wustl.edu	37	X	73960360	73960360	+	Silent	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrX:73960360G>T	ENST00000055682.6	-	3	4643	c.4032C>A	c.(4030-4032)ccC>ccA	p.P1344P		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1344					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGTGCTCCATGGGTTCCCAAA	0.473																																																0			X											70	66	67					X																	73960360		2203	4300	6503	73877085	SO:0001819	synonymous_variant	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4032C>A	X.37:g.73960360G>T			73877085	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	CCDS35337.1																																																																																				0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73960360	G	T	73960360	2	4	362	1	0	0	0	0	0	0	0	1	8269	1335	47	3		3	KIAA2022	23	73960360	Silent	SNP	G	TCGA-30-1714-01A-02W-0633-09	29022691	73960360	81310200	67	19899											
TCEAL4	79921	genome.wustl.edu	37	X	102841740	102841740	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrX:102841740A>C	ENST00000472745.1	+	3	689	c.137A>C	c.(136-138)aAg>aCg	p.K46T	TCEAL4_ENST00000415568.2_Missense_Mutation_p.K46T|TCEAL4_ENST00000372629.4_Missense_Mutation_p.K189T|TCEAL4_ENST00000468024.1_Missense_Mutation_p.K46T|TCEAL4_ENST00000494801.1_Missense_Mutation_p.K46T|TCEAL4_ENST00000472484.1_Missense_Mutation_p.K46T			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	46	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						aacgagggaaagacagaaaac	0.428																																																0			X											87	89	88					X																	102841740		2189	4288	6477	102728396	SO:0001583	missense	79921			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.137A>C	X.37:g.102841740A>C	ENSP00000424314:p.Lys46Thr		102728396	Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	37	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351510	0.41700	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000490644;ENST00000459722;ENST00000472745;ENST00000494801;ENST00000434216;ENST00000425011;ENST00000469586	T;T;T;T;T;T;T;T;T;T;T	0.59083	1.61;2.79;2.79;2.79;1.23;1.12;2.79;2.79;0.29;0.59;1.65	3.67	-0.465	0.12157	.	1.458850	0.04673	N	0.411022	T	0.63224	0.2493	M	0.65498	2.005	0.09310	N	1	D	0.56746	0.977	P	0.54060	0.741	T	0.49072	-0.8977	10	0.59425	D	0.04	.	2.4583	0.04535	0.4286:0.0:0.1372:0.4343	.	46	Q96EI5	TCAL4_HUMAN	T	189;46;46;46;46;46;46;46;46;46;46;46	ENSP00000361712:K189T;ENSP00000421857:K46T;ENSP00000421156:K46T;ENSP00000415564:K46T;ENSP00000425883:K46T;ENSP00000423723:K46T;ENSP00000424314:K46T;ENSP00000427494:K46T;ENSP00000411320:K46T;ENSP00000394029:K46T;ENSP00000427053:K46T	ENSP00000361712:K189T	K	+	2	0	TCEAL4	102728396	0.823000	0.29233	0.001000	0.08648	0.392000	0.30506	0.187000	0.16998	-0.155000	0.11098	0.427000	0.28365	AAG		0.428	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863		C	102841740	A	C	102841740	3	2	362	1	0	0	0	0	1	0	0	0	15673	72	3	5	139	5	TCEAL4	23	102841740	Missense_Mutation	SNP	A	TCGA-30-1714-01A-02W-0633-09	28881380	102841740	52428820	68	19900											
DDI2	84301	genome.wustl.edu	37	1	15964846	15964846	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr1:15964846C>G	ENST00000480945.1	+	5	848	c.677C>G	c.(676-678)gCt>gGt	p.A226G		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	226							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATGGAAGAGGCTCCGGAAAGT	0.418																																																0			1											198	196	197					1																	15964846		2203	4300	6503	15837433	SO:0001583	missense	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.677C>G	1.37:g.15964846C>G	ENSP00000417748:p.Ala226Gly		15837433	A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459570	0.84317	.	.	ENSG00000197312	ENST00000480945	T	0.38887	1.11	5.58	5.58	0.84498	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.85682	U	0.000000	T	0.57592	0.2064	L	0.53249	1.67	0.80722	D	1	P	0.52316	0.952	P	0.60012	0.867	T	0.47289	-0.9129	10	0.27082	T	0.32	-29.6617	19.19	0.93663	0.0:1.0:0.0:0.0	.	226	Q5TDH0	DDI2_HUMAN	G	226	ENSP00000417748:A226G	ENSP00000417748:A226G	A	+	2	0	DDI2	15837433	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.636000	0.89361	0.460000	0.39030	GCT		0.418	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		G	15964846	C	G	15964846	3	3	363	1	0	0	0	0	1	0	0	0	4329	797	28	3	695	3	DDI2	1	15964846	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09		15964846	233285775	1	19901											
FGR	2268	genome.wustl.edu	37	1	27942022	27942022	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr1:27942022C>T	ENST00000374005.3	-	9	1229	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	FGR_ENST00000399173.1_Missense_Mutation_p.R314Q|FGR_ENST00000545953.1_Missense_Mutation_p.R248Q|FGR_ENST00000374004.1_Missense_Mutation_p.R314Q	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	314	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGTCGTGCCGCAGCAGCTT	0.637																																																0			1											82	70	74					1																	27942022		2203	4300	6503	27814609	SO:0001583	missense	2268			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.941G>A	1.37:g.27942022C>T	ENSP00000363117:p.Arg314Gln		27814609	D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206104	0.58234	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000085	T	0.07052	0.0179	N	0.05574	-0.02	0.38646	D	0.95171	D	0.54772	0.968	B	0.39771	0.309	T	0.39901	-0.9591	10	0.09843	T	0.71	.	17.097	0.86638	0.0:1.0:0.0:0.0	.	314	P09769	FGR_HUMAN	Q	314;248;314;314;314	ENSP00000363117:R314Q;ENSP00000445302:R248Q;ENSP00000382126:R314Q;ENSP00000363116:R314Q;ENSP00000363115:R314Q	ENSP00000363115:R314Q	R	-	2	0	FGR	27814609	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.715000	0.84713	2.451000	0.82905	0.491000	0.48974	CGG		0.637	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		T	27942022	C	T	27942022	3	4	363	1	0	0	0	0	1	0	0	0	5874	652	23	1	668	1	FGR	1	27942022	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	11977176	27942022	221308599	2	19902											
CSMD2	114784	genome.wustl.edu	37	1	34112344	34112344	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr1:34112344G>C	ENST00000373380.1	-	8	1517	c.1297C>G	c.(1297-1299)Ctc>Gtc	p.L433V	CSMD2_ENST00000373381.4_Missense_Mutation_p.L1560V|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1520	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGCCTGGGAGCTGGGAGCCA	0.547																																																0			1											60	59	59					1																	34112344		2203	4300	6503	33884931	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1297C>G	1.37:g.34112344G>C	ENSP00000362478:p.Leu433Val		33884931	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	G	15.31	2.796437	0.50208	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.18502	2.21;2.21	5.95	5.95	0.96441	CUB (5);	0.231294	0.36665	N	0.002473	T	0.14184	0.0343	L	0.28740	0.885	0.80722	D	1	B;B;B	0.13594	0.001;0.008;0.008	B;B;B	0.18871	0.011;0.023;0.023	T	0.09100	-1.0690	10	0.06757	T	0.87	.	19.3735	0.94500	0.0:0.0:1.0:0.0	.	433;1520;1560	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	V	1560;433	ENSP00000362479:L1560V;ENSP00000362478:L433V	ENSP00000241312:L1520V	L	-	1	0	CSMD2	33884931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.375000	0.52410	2.825000	0.97269	0.655000	0.94253	CTC		0.547	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		C	34112344	G	C	34112344	3	2	363	1	0	0	0	0	1	0	0	0	3945	971	34	3	6069	3	CSMD2	1	34112344	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	6170322	34112344	215138277	3	19903											
EPHA10	284656	genome.wustl.edu	37	1	38197201	38197201	+	Silent	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr1:38197201G>A	ENST00000373048.4	-	7	1544	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	EPHA10_ENST00000540011.1_Silent_p.T10T|EPHA10_ENST00000330210.7_Silent_p.T10T|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.T515T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	515	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTTGGTGACGGTGACTGTGG	0.597																																																0			1											108	109	109					1																	38197201		1950	4145	6095	37969788	SO:0001819	synonymous_variant	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1545C>T	1.37:g.38197201G>A			37969788	A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	CCDS41305.1																																																																																				0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38197201	G	A	38197201	2	1	363	1	0	0	0	0	0	0	0	1	5166	1103	39	1		1	EPHA10	1	38197201	Silent	SNP	G	TCGA-30-1718-01A-01W-0633-09	4084857	38197201	211053420	4	19904											
GTF2B	2959	genome.wustl.edu	37	1	89323153	89323153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr1:89323153G>A	ENST00000370500.5	-	6	671	c.553C>T	c.(553-555)Cga>Tga	p.R185*	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	185					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TTAGAAATTCGTGATACGGCA	0.299																																																0			1											29	31	30					1																	89323153		2203	4300	6503	89095741	SO:0001587	stop_gained	2959			M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"General transcription factors"	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.553C>T	1.37:g.89323153G>A	ENSP00000359531:p.Arg185*		89095741	A8K1A7|Q5JS30	Nonsense_Mutation	SNP	ENST00000370500.5	37	CCDS715.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111188	0.77210	.	.	ENSG00000137947	ENST00000370500;ENST00000448623;ENST00000418217	.	.	.	5.53	3.53	0.40419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5937	9.1646	0.37043	0.0785:0.0:0.6693:0.2522	.	.	.	.	X	185;184;180	.	ENSP00000359531:R185X	R	-	1	2	GTF2B	89095741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.827000	0.48112	1.467000	0.48044	0.561000	0.74099	CGA		0.299	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		A	89323153	G	A	89323153	4	1	363	1	0	0	0	0	0	1	0	0	6855	1153	40	1	405	1	GTF2B	1	89323153	Nonsense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	51125952	89323153	159927468	5	19905											
GJA8	2703	genome.wustl.edu	37	1	147380991	147380991	+	Silent	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr1:147380991G>A	ENST00000369235.1	+	1	909	c.909G>A	c.(907-909)aaG>aaA	p.K303K	GJA8_ENST00000240986.4_Silent_p.K303K			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	303					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCGAGGAGAAGATCAGCACAG	0.587																																					Melanoma(76;1255 1795 8195 52096)											0			1											37	36	37					1																	147380991		2202	4300	6502	145847615	SO:0001819	synonymous_variant	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.909G>A	1.37:g.147380991G>A			145847615	A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	CCDS30834.1																																																																																				0.587	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		A	147380991	G	A	147380991	2	1	363	1	0	0	0	0	0	0	0	1	6405	933	33	2		2	GJA8	1	147380991	Silent	SNP	G	TCGA-30-1718-01A-01W-0633-09	58057838	147380991	101869630	6	19906											
SPTA1	6708	genome.wustl.edu	37	1	158655040	158655040	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr1:158655040C>T	ENST00000368147.4	-	2	302	c.122G>A	c.(121-123)cGg>cAg	p.R41Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	41			R -> W (in EL2; Tunis). {ECO:0000269|PubMed:2568861}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCAGCGACCCGCTCCTTGAA	0.493																																																0			1											124	124	124					1																	158655040		1924	4137	6061	156921664	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.122G>A	1.37:g.158655040C>T	ENSP00000357129:p.Arg41Gln		156921664	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534835	0.45073	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.34275	1.37;1.37	4.98	-2.08	0.07254	.	1.276770	0.06291	N	0.699140	T	0.08802	0.0218	N	0.16478	0.41	0.35320	D	0.784645	B	0.06786	0.001	B	0.06405	0.002	T	0.37596	-0.9699	10	0.25106	T	0.35	.	10.406	0.44256	0.3303:0.5659:0.0:0.1038	.	41	P02549	SPTA1_HUMAN	Q	41	ENSP00000357130:R41Q;ENSP00000357129:R41Q	ENSP00000357129:R41Q	R	-	2	0	SPTA1	156921664	1.000000	0.71417	0.539000	0.28077	0.969000	0.65631	2.322000	0.43814	-0.154000	0.11118	-0.518000	0.04402	CGG		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158655040	C	T	158655040	3	4	363	1	0	0	0	0	1	0	0	0	15118	652	23	1	7341	1	SPTA1	1	158655040	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	11274049	158655040	90595581	7	19907											
PPP1R15B	84919	genome.wustl.edu	37	1	204378710	204378710	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr1:204378710C>G	ENST00000367188.4	-	1	2209	c.1830G>C	c.(1828-1830)caG>caC	p.Q610H	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	610					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCCCCAACAGCTGCACCTTAC	0.463																																																0			1											69	68	68					1																	204378710		2203	4300	6503	202645333	SO:0001583	missense	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1830G>C	1.37:g.204378710C>G	ENSP00000356156:p.Gln610His		202645333	Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458071	0.26161	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.24538	1.85	5.04	-3.63	0.04529	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.698726	0.14303	N	0.328139	T	0.21962	0.0529	L	0.45581	1.43	0.09310	N	1	P	0.40144	0.704	B	0.42462	0.388	T	0.15206	-1.0445	10	0.44086	T	0.13	-0.806	9.7903	0.40702	0.1381:0.6542:0.0:0.2077	.	610	Q5SWA1	PR15B_HUMAN	H	610;520	ENSP00000356156:Q610H	ENSP00000356156:Q610H	Q	-	3	2	PPP1R15B	202645333	0.000000	0.05858	0.001000	0.08648	0.778000	0.44026	-1.244000	0.02902	-0.645000	0.05458	-0.302000	0.09304	CAG		0.463	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		G	204378710	C	G	204378710	3	3	363	1	0	0	0	0	1	0	0	0	12367	796	28	3	319	3	PPP1R15B	1	204378710	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	45723670	204378710	44871911	8	19908											
OPN3	23596	genome.wustl.edu	37	1	241761112	241761112	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr1:241761112G>C	ENST00000366554.2	-	3	987	c.881C>G	c.(880-882)tCg>tGg	p.S294W	OPN3_ENST00000331838.5_Missense_Mutation_p.S215W|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	294					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAAGAGGTACGAAACAATAGA	0.398																																																0			1											159	147	151					1																	241761112		2203	4300	6503	239827735	SO:0001583	missense	23596			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.881C>G	1.37:g.241761112G>C	ENSP00000355512:p.Ser294Trp		239827735	Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688207	0.48097	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.72835	-0.69;-0.69	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.150622	0.45126	D	0.000396	T	0.78978	0.4369	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	T	0.81955	-0.0696	10	0.87932	D	0	.	17.1598	0.86801	0.0:0.0:1.0:0.0	.	294	Q9H1Y3	OPN3_HUMAN	W	294;215	ENSP00000355512:S294W;ENSP00000328018:S215W	ENSP00000328018:S215W	S	-	2	0	OPN3	239827735	1.000000	0.71417	0.760000	0.31359	0.027000	0.11550	5.778000	0.68940	2.210000	0.71456	0.655000	0.94253	TCG		0.398	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		C	241761112	G	C	241761112	3	2	363	1	0	0	0	0	1	0	0	0	10881	1059	37	3	335	3	OPN3	1	241761112	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	37382402	241761112	7489509	9	19909											
PSME4	23198	genome.wustl.edu	37	2	54133754	54133754	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr2:54133754G>A	ENST00000404125.1	-	26	2979	c.2924C>T	c.(2923-2925)tCt>tTt	p.S975F	PSME4_ENST00000421748.2_Missense_Mutation_p.S119F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	975					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGAACTTGTAGATAAACGAAG	0.373																																																0			2											162	161	161					2																	54133754		2203	4300	6503	53987258	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2924C>T	2.37:g.54133754G>A	ENSP00000384211:p.Ser975Phe		53987258	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000066	0.74818	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.63913	-0.07;-0.07	5.51	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.050448	0.85682	D	0.000000	T	0.76190	0.3953	M	0.70275	2.135	0.80722	D	1	D;P;D	0.69078	0.997;0.912;0.994	P;P;P	0.62089	0.898;0.717;0.794	T	0.79100	-0.1942	10	0.72032	D	0.01	.	16.9662	0.86286	0.0:0.1273:0.8727:0.0	.	350;119;975	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	F	119;975	ENSP00000410830:S119F;ENSP00000384211:S975F	ENSP00000384211:S975F	S	-	2	0	PSME4	53987258	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.540000	0.82074	2.742000	0.94016	0.650000	0.86243	TCT		0.373	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		A	54133754	G	A	54133754	3	1	363	1	0	0	0	0	1	0	0	0	12712	942	33	2	2691	2	PSME4	2	54133754	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09		54133754	189065619	10	19910											
CNTNAP5	129684	genome.wustl.edu	37	2	125232356	125232356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr2:125232356delC	ENST00000431078.1	+	7	1323	c.959delC	c.(958-960)accfs	p.T320fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	320	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T320I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAACCTGGGACCTTTTTAAAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	2											46	42	43					2																	125232356		1808	4073	5881	124948826	SO:0001589	frameshift_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.959delC	2.37:g.125232356delC	ENSP00000399013:p.Thr320fs		124948826	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	ENST00000431078.1	37	CCDS46401.1																																																																																				0.368	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			-	125232356	C	-	125232356	7	5	363	1	0	1	0	1	0	0	0	0	3650	507	18	0	985	0	CNTNAP5	2	125232356	Frame_Shift_Del	DEL	C	TCGA-30-1718-01A-01W-0633-09	71098602	125232356	117967017	11	19911											
TTN	7273	genome.wustl.edu	37	2	179495042	179495042	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr2:179495042C>G	ENST00000591111.1	-	189	39508	c.39284G>C	c.(39283-39285)tGt>tCt	p.C13095S	TTN_ENST00000359218.5_Missense_Mutation_p.C5796S|TTN_ENST00000460472.2_Missense_Mutation_p.C5671S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C5863S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C14736S|TTN_ENST00000342992.6_Missense_Mutation_p.C12168S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13095					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCAGGCGACAGTTGTGCAA	0.398																																																0			2											77	82	81					2																	179495042		1853	4076	5929	179203287	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39284G>C	2.37:g.179495042C>G	ENSP00000465570:p.Cys13095Ser		179203287	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.89	2.370788	0.42003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	6.04	6.04	0.98038	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33089	0.0851	L	0.60455	1.87	0.33601	D	0.602381	P;P;P;P	0.42827	0.791;0.791;0.791;0.791	B;B;B;B	0.32677	0.15;0.15;0.15;0.15	T	0.56275	-0.8006	9	0.87932	D	0	.	13.458	0.61210	0.2559:0.7441:0.0:0.0	.	5671;5796;5863;13095	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	12168;5671;5863;5796;5671	ENSP00000343764:C12168S;ENSP00000434586:C5671S;ENSP00000340554:C5863S;ENSP00000352154:C5796S	ENSP00000340554:C5863S	C	-	2	0	TTN	179203287	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.294000	0.59043	2.873000	0.98535	0.563000	0.77884	TGT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179495042	C	G	179495042	3	3	363	1	0	0	0	0	1	0	0	0	16735	478	17	3	63982	3	TTN	2	179495042	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	54262686	179495042	63704331	12	19912											
TTN	7273	genome.wustl.edu	37	2	179581915	179581915	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr2:179581915G>T	ENST00000591111.1	-	86	24819	c.24595C>A	c.(24595-24597)Ctc>Atc	p.L8199I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L8516I|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L7272I|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12383	Ig-like 64.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTACTTTGAGAACTGTCAGA	0.483																																																0			2											66	67	66					2																	179581915		1919	4126	6045	179290160	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24595C>A	2.37:g.179581915G>T	ENSP00000465570:p.Leu8199Ile		179290160	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.55	2.570279	0.45798	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77003	0.4067	L	0.49640	1.575	0.80722	D	1	P	0.49447	0.924	P	0.58454	0.839	T	0.77970	-0.2387	9	0.87932	D	0	.	19.8125	0.96553	0.0:0.0:1.0:0.0	.	8199	Q8WZ42	TITIN_HUMAN	I	7272	ENSP00000343764:L7272I	ENSP00000343764:L7272I	L	-	1	0	TTN	179290160	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.660000	0.74417	2.745000	0.94114	0.655000	0.94253	CTC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179581915	G	T	179581915	3	4	363	1	0	0	0	0	1	0	0	0	16735	942	33	3	79083	3	TTN	2	179581915	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	86873	179581915	63617458	13	19913											
ZNF804A	91752	genome.wustl.edu	37	2	185800771	185800771	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr2:185800771T>G	ENST00000302277.6	+	4	1242	c.648T>G	c.(646-648)ttT>ttG	p.F216L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	216							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCTTTTCTTTTGCATTTCCAA	0.423																																																0			2											66	67	66					2																	185800771		2203	4300	6503	185509016	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.648T>G	2.37:g.185800771T>G	ENSP00000303252:p.Phe216Leu		185509016	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067710	0.76301	.	.	ENSG00000170396	ENST00000302277	T	0.40756	1.02	5.32	4.16	0.48862	.	0.000000	0.56097	D	0.000027	T	0.62804	0.2458	M	0.78456	2.415	0.42510	D	0.99296	D	0.89917	1.0	D	0.83275	0.996	T	0.65664	-0.6113	10	0.87932	D	0	-18.1002	10.3046	0.43672	0.0:0.0779:0.0:0.9221	.	216	Q7Z570	Z804A_HUMAN	L	216	ENSP00000303252:F216L	ENSP00000303252:F216L	F	+	3	2	ZNF804A	185509016	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.547000	0.53663	0.862000	0.35528	0.383000	0.25322	TTT		0.423	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		G	185800771	T	G	185800771	3	3	363	1	0	0	0	0	1	0	0	0	18170	1809	63	5	662	5	ZNF804A	2	185800771	Missense_Mutation	SNP	T	TCGA-30-1718-01A-01W-0633-09	6218856	185800771	57398602	14	19914											
WDR75	84128	genome.wustl.edu	37	2	190327258	190327258	+	Missense_Mutation	SNP	G	G	A	rs148423434		TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr2:190327258G>A	ENST00000314761.4	+	9	887	c.827G>A	c.(826-828)cGc>cAc	p.R276H		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	276						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GTAGAGTGGCGCGATGCAACA	0.448																																																0			2						G	HIS/ARG	0,4406		0,0,2203	152	154	153		827	5.2	1	2	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR75	NM_032168.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	276/831	190327258	1,13005	2203	4300	6503	190035503	SO:0001583	missense	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.827G>A	2.37:g.190327258G>A	ENSP00000314193:p.Arg276His		190035503	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273158	0.23221	0.0	1.16E-4	ENSG00000115368	ENST00000314761	T	0.04654	3.58	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.268005	0.39615	N	0.001318	T	0.02888	0.0086	N	0.11427	0.14	0.34402	D	0.695368	B;B	0.24721	0.11;0.11	B;B	0.17722	0.013;0.019	T	0.34601	-0.9822	10	0.44086	T	0.13	-15.4448	8.4812	0.33043	0.0861:0.1579:0.756:0.0	.	276;276	A8K330;Q8IWA0	.;WDR75_HUMAN	H	276	ENSP00000314193:R276H	ENSP00000314193:R276H	R	+	2	0	WDR75	190035503	0.997000	0.39634	0.962000	0.40283	0.122000	0.20287	2.590000	0.46154	2.723000	0.93209	0.655000	0.94253	CGC		0.448	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		A	190327258	G	A	190327258	3	1	363	1	0	0	0	0	1	0	0	0	17325	1087	38	1	861	1	WDR75	2	190327258	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	4526487	190327258	52872115	15	19915											
STT3B	201595	genome.wustl.edu	37	3	31659440	31659440	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr3:31659440G>A	ENST00000295770.2	+	8	1341	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	378					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						AGGTTACATTGCACCATGGAG	0.303																																																0			3											192	190	191					3																	31659440		2203	4300	6503	31634444	SO:0001583	missense	201595			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1132G>A	3.37:g.31659440G>A	ENSP00000295770:p.Ala378Thr		31634444	Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374520	0.95923	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85873	0.5798	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86053	0.1527	9	0.45353	T	0.12	-13.337	20.1075	0.97898	0.0:0.0:1.0:0.0	.	378	Q8TCJ2	STT3B_HUMAN	T	378	.	ENSP00000295770:A378T	A	+	1	0	STT3B	31634444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.550000	0.98110	2.771000	0.95319	0.580000	0.79431	GCA		0.303	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		A	31659440	G	A	31659440	3	1	363	1	0	0	0	0	1	0	0	0	15336	1319	46	2	1162	2	STT3B	3	31659440	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09		31659440	166362990	16	19916											
TEX264	51368	genome.wustl.edu	37	3	51718563	51718563	+	Silent	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr3:51718563G>A	ENST00000415259.1	+	3	1474	c.393G>A	c.(391-393)gtG>gtA	p.V131V	TEX264_ENST00000341333.5_Silent_p.V131V|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Silent_p.V131V|TEX264_ENST00000395057.1_Silent_p.V131V|TEX264_ENST00000416589.1_Silent_p.V131V			Q9Y6I9	TX264_HUMAN	testis expressed 264	131						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CCAGCCATGTGGTGACAGCCA	0.582																																																0			3											73	61	65					3																	51718563		2203	4300	6503	51693603	SO:0001819	synonymous_variant	51368			AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"testis expressed gene 264", "testis expressed sequence 264"			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.393G>A	3.37:g.51718563G>A			51693603	B3KN87|Q9UKD7	Silent	SNP	ENST00000415259.1	37	CCDS2833.1																																																																																				0.582	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		A	51718563	G	A	51718563	2	1	363	1	0	0	0	0	0	0	0	1	15783	1335	47	2		2	TEX264	3	51718563	Silent	SNP	G	TCGA-30-1718-01A-01W-0633-09	20059123	51718563	146303867	17	19917											
GPR15	2838	genome.wustl.edu	37	3	98251144	98251144	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr3:98251144G>C	ENST00000284311.3	+	1	402	c.267G>C	c.(265-267)tgG>tgC	p.W89C		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	89					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TGCCTCTCTGGGTGGATAAAG	0.502																																																0			3											81	82	82					3																	98251144		2203	4300	6503	99733834	SO:0001583	missense	2838				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.267G>C	3.37:g.98251144G>C	ENSP00000284311:p.Trp89Cys		99733834	Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653063	0.67472	.	.	ENSG00000154165	ENST00000284311	T	0.73575	-0.76	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000168	D	0.89403	0.6705	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91851	0.5491	10	0.87932	D	0	-11.3975	15.7547	0.78015	0.0:0.0:1.0:0.0	.	89	P49685	GPR15_HUMAN	C	89	ENSP00000284311:W89C	ENSP00000284311:W89C	W	+	3	0	GPR15	99733834	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.816000	0.86201	2.656000	0.90262	0.591000	0.81541	TGG		0.502	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			C	98251144	G	C	98251144	3	2	363	1	0	0	0	0	1	0	0	0	6655	1241	43	3	269	3	GPR15	3	98251144	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	46532581	98251144	99771286	18	19918											
A4GNT	51146	genome.wustl.edu	37	3	137843212	137843212	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr3:137843212G>A	ENST00000236709.3	-	3	1118	c.917C>T	c.(916-918)aCa>aTa	p.T306I		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	306					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TTCCACCAGTGTGTTGCTTCC	0.532																																																0			3											122	129	127					3																	137843212		2203	4300	6503	139325902	SO:0001583	missense	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.917C>T	3.37:g.137843212G>A	ENSP00000236709:p.Thr306Ile		139325902	Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829021	0.50845	.	.	ENSG00000118017	ENST00000236709	T	0.72835	-0.69	5.53	4.65	0.58169	Alpha 1,4-glycosyltransferase domain (1);	0.074401	0.56097	D	0.000039	D	0.85410	0.5690	M	0.84683	2.71	0.38093	D	0.937015	D	0.89917	1.0	D	0.78314	0.991	D	0.88742	0.3244	10	0.52906	T	0.07	-21.2296	16.5938	0.84789	0.0:0.1301:0.8699:0.0	.	306	Q9UNA3	A4GCT_HUMAN	I	306	ENSP00000236709:T306I	ENSP00000236709:T306I	T	-	2	0	A4GNT	139325902	0.998000	0.40836	0.911000	0.35937	0.291000	0.27294	3.006000	0.49529	1.307000	0.44944	0.563000	0.77884	ACA		0.532	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		A	137843212	G	A	137843212	3	1	363	1	0	0	0	0	1	0	0	0	7	1377	48	2	109	2	A4GNT	3	137843212	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	39592068	137843212	60179218	19	19919											
MED12L	116931	genome.wustl.edu	37	3	151102843	151102843	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr3:151102843A>G	ENST00000474524.1	+	34	4885	c.4847A>G	c.(4846-4848)gAa>gGa	p.E1616G	P2RY12_ENST00000302632.3_5'Flank|MED12L_ENST00000273432.4_Missense_Mutation_p.E1476G	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1616						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGCGATCAGAAAGTATTGAC	0.403																																																0			3											113	112	112					3																	151102843		2203	4300	6503	152585533	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4847A>G	3.37:g.151102843A>G	ENSP00000417235:p.Glu1616Gly		152585533	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580907	0.65992	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.61510	0.32;0.1	5.63	5.63	0.86233	.	0.052972	0.85682	D	0.000000	T	0.47710	0.1460	N	0.22421	0.69	0.53688	D	0.999976	P;B;P	0.37525	0.486;0.361;0.598	B;B;B	0.38225	0.268;0.244;0.188	T	0.54193	-0.8330	10	0.72032	D	0.01	-26.5968	15.5314	0.75964	1.0:0.0:0.0:0.0	.	1476;1615;1616	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	G	1616;1476	ENSP00000417235:E1616G;ENSP00000273432:E1476G	ENSP00000273432:E1476G	E	+	2	0	MED12L	152585533	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.500000	0.81588	2.145000	0.66743	0.533000	0.62120	GAA		0.403	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		G	151102843	A	G	151102843	3	3	363	1	0	0	0	0	1	0	0	0	9429	246	9	4	4981	4	MED12L	3	151102843	Missense_Mutation	SNP	A	TCGA-30-1718-01A-01W-0633-09	13259631	151102843	46919587	20	19920											
HTT	3064	genome.wustl.edu	37	4	3188380	3188380	+	Silent	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr4:3188380G>A	ENST00000355072.5	+	38	5068	c.4923G>A	c.(4921-4923)ttG>ttA	p.L1641L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1641					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGAGATTTTGGCCCCTTCCT	0.453																																																0			4											245	228	234					4																	3188380		1940	4138	6078	3158178	SO:0001819	synonymous_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4923G>A	4.37:g.3188380G>A			3158178	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.453	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3188380	G	A	3188380	2	1	363	1	0	0	0	0	0	0	0	1	7457	1339	47	2		2	HTT	4	3188380	Silent	SNP	G	TCGA-30-1718-01A-01W-0633-09		3188380	187965896	21	19921											
TADA2B	93624	genome.wustl.edu	37	4	7056625	7056625	+	Silent	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr4:7056625C>T	ENST00000310074.7	+	2	1296	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y	TADA2B_ENST00000515646.1_Silent_p.Y277Y|TADA2B_ENST00000512388.1_Silent_p.Y294Y	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	369					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CAGCCCGCTACGTGACTGTGA	0.517																																																0			4											70	73	72					4																	7056625		1919	4123	6042	7107526	SO:0001819	synonymous_variant	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1107C>T	4.37:g.7056625C>T			7107526	A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	CCDS47007.1																																																																																				0.517	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		T	7056625	C	T	7056625	2	4	363	1	0	0	0	0	0	0	0	1	15511	547	19	1		1	TADA2B	4	7056625	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	3868245	7056625	184097651	22	19922											
NPNT	255743	genome.wustl.edu	37	4	106863581	106863581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr4:106863581G>A	ENST00000379987.2	+	8	1097	c.881G>A	c.(880-882)tGg>tAg	p.W294*	NPNT_ENST00000453617.2_Nonsense_Mutation_p.W311*|NPNT_ENST00000305572.8_Nonsense_Mutation_p.W294*|NPNT_ENST00000427316.2_Nonsense_Mutation_p.W324*|NPNT_ENST00000506666.1_Nonsense_Mutation_p.W324*|NPNT_ENST00000514622.1_Nonsense_Mutation_p.W294*	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	294					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GGAAGTACTTGGTGGCCTCCG	0.418																																																0			4											122	109	113					4																	106863581		2203	4300	6503	107083030	SO:0001587	stop_gained	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.881G>A	4.37:g.106863581G>A	ENSP00000369323:p.Trp294*		107083030	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Nonsense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692770	0.68271	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	.	.	.	4.98	3.23	0.37069	.	0.457975	0.25801	N	0.028209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	7.2425	0.26104	0.2791:0.0:0.7209:0.0	.	.	.	.	X	294;311;324;294;294;324;341	.	ENSP00000302557:W294X	W	+	2	0	NPNT	107083030	0.139000	0.22563	0.559000	0.28332	0.008000	0.06430	1.310000	0.33551	0.594000	0.29761	0.555000	0.69702	TGG		0.418	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		A	106863581	G	A	106863581	4	1	363	1	0	0	0	0	0	1	0	0	10590	1357	47	2	1060	2	NPNT	4	106863581	Nonsense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	99806956	106863581	84290695	23	19923											
CLCN3	1182	genome.wustl.edu	37	4	170601324	170601324	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr4:170601324G>A	ENST00000513761.1	+	3	843	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	CLCN3_ENST00000347613.4_Missense_Mutation_p.R95Q|CLCN3_ENST00000504131.2_Missense_Mutation_p.R78Q|CLCN3_ENST00000360642.3_Missense_Mutation_p.R95Q	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	95					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GATTGGGTGCGAGAAAAATGT	0.323																																																0			4											114	111	112					4																	170601324		2203	4300	6503	170837899	SO:0001583	missense	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.284G>A	4.37:g.170601324G>A	ENSP00000424603:p.Arg95Gln		170837899	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093304	0.94149	.	.	ENSG00000109572	ENST00000511092;ENST00000513761;ENST00000347613;ENST00000360642;ENST00000512813;ENST00000538301;ENST00000504131;ENST00000507875	T;D;D;D;T;D;D	0.92099	0.73;-2.97;-2.97;-2.97;0.73;-2.97;-2.97	4.87	4.0	0.46444	.	0.278487	0.35124	N	0.003422	D	0.91955	0.7452	N	0.20445	0.575	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.989;0.996;0.978;0.997	D;P;P;P;D	0.67900	0.954;0.641;0.814;0.657;0.912	D	0.92764	0.6226	10	0.66056	D	0.02	-3.2662	14.9369	0.70964	0.0:0.1439:0.856:0.0	.	95;78;68;95;95	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	Q	95;95;95;95;95;95;78;68	ENSP00000425160:R95Q;ENSP00000424603:R95Q;ENSP00000261514:R95Q;ENSP00000353857:R95Q;ENSP00000425823:R95Q;ENSP00000424540:R78Q;ENSP00000425323:R68Q	ENSP00000261514:R95Q	R	+	2	0	CLCN3	170837899	1.000000	0.71417	0.599000	0.28851	0.991000	0.79684	7.662000	0.83803	0.994000	0.38892	0.462000	0.41574	CGA		0.323	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			A	170601324	G	A	170601324	3	1	363	1	0	0	0	0	1	0	0	0	3464	1058	37	1	290	1	CLCN3	4	170601324	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	63737743	170601324	20552952	24	19924											
CHD1	1105	genome.wustl.edu	37	5	98224789	98224789	+	Missense_Mutation	SNP	C	C	G	rs199914342		TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr5:98224789C>G	ENST00000284049.3	-	15	2483	c.2334G>C	c.(2332-2334)gaG>gaC	p.E778D	RNU6-402P_ENST00000410678.1_RNA	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	778					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTGTAAGGCCTCCTGTTTAT	0.308																																																0			5											63	68	66					5																	98224789		2203	4300	6503	98252689	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2334G>C	5.37:g.98224789C>G	ENSP00000284049:p.Glu778Asp		98252689	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897160	0.33535	.	.	ENSG00000153922	ENST00000284049	T	0.75938	-0.98	5.82	4.04	0.47022	.	0.000000	0.33916	U	0.004434	T	0.58104	0.2099	N	0.25060	0.705	0.58432	D	0.999999	B	0.15719	0.014	B	0.15484	0.013	T	0.51772	-0.8663	10	0.13108	T	0.6	.	12.6381	0.56694	0.0:0.865:0.0:0.135	.	778	O14646	CHD1_HUMAN	D	778	ENSP00000284049:E778D	ENSP00000284049:E778D	E	-	3	2	CHD1	98252689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.421000	0.44688	1.476000	0.48215	0.650000	0.86243	GAG		0.308	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		G	98224789	C	G	98224789	3	3	363	1	0	0	0	0	1	0	0	0	3323	680	24	3	2882	3	CHD1	5	98224789	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09		98224789	82690471	25	19925											
ZMAT2	153527	genome.wustl.edu	37	5	140080055	140080055	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr5:140080055G>C	ENST00000274712.3	+	1	137	c.10G>C	c.(10-12)Ggc>Cgc	p.G4R		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	4						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGCGTCGGGCAGCGGGGT	0.547																																																0			5											139	145	143					5																	140080055		2203	4300	6503	140060239	SO:0001583	missense	153527			AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"Zinc fingers, matrin-type"	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.10G>C	5.37:g.140080055G>C	ENSP00000274712:p.Gly4Arg		140060239		Missense_Mutation	SNP	ENST00000274712.3	37	CCDS4239.1	.	.	.	.	.	.	.	.	.	.	g	17.80	3.478541	0.63849	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.43	4.56	0.56223	.	0.233910	0.44902	D	0.000414	T	0.53206	0.1782	L	0.39898	1.24	0.54753	D	0.999987	B	0.24823	0.112	B	0.25884	0.064	T	0.51568	-0.8689	9	0.39692	T	0.17	-5.7252	13.0385	0.58885	0.0775:0.0:0.9225:0.0	.	4	Q96NC0	ZMAT2_HUMAN	R	4	.	ENSP00000274712:G4R	G	+	1	0	ZMAT2	140060239	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.079000	0.57613	1.530000	0.49136	0.650000	0.86243	GGC		0.547	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723		C	140080055	G	C	140080055	3	2	363	1	0	0	0	0	1	0	0	0	17692	1232	43	3	12	3	ZMAT2	5	140080055	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	41855266	140080055	40835205	26	19926											
PCDHB2	56133	genome.wustl.edu	37	5	140476266	140476266	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr5:140476266T>G	ENST00000194155.4	+	1	2040	c.1892T>G	c.(1891-1893)cTg>cGg	p.L631R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCCAGGCTGCTGAGGGAG	0.701																																																0			5											43	46	45					5																	140476266		2172	4245	6417	140456450	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1892T>G	5.37:g.140476266T>G	ENSP00000194155:p.Leu631Arg		140456450	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.532942	0.27387	.	.	ENSG00000112852	ENST00000194155	T	0.47869	0.83	4.29	-5.81	0.02340	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.43010	0.1228	N	0.10837	0.055	0.09310	N	1	D	0.57257	0.979	P	0.61070	0.883	T	0.53585	-0.8418	9	0.54805	T	0.06	.	15.5738	0.76359	0.0:0.6379:0.0:0.3621	.	631	Q9Y5E7	PCDB2_HUMAN	R	631	ENSP00000194155:L631R	ENSP00000194155:L631R	L	+	2	0	PCDHB2	140456450	0.000000	0.05858	0.936000	0.37596	0.913000	0.54294	-2.093000	0.01353	-1.177000	0.02744	-0.451000	0.05528	CTG		0.701	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		G	140476266	T	G	140476266	3	3	363	1	0	0	0	0	1	0	0	0	11542	1580	55	5	1894	5	PCDHB2	5	140476266	Missense_Mutation	SNP	T	TCGA-30-1718-01A-01W-0633-09	396211	140476266	40438994	27	19927											
PCDHB8	56128	genome.wustl.edu	37	5	140559367	140559367	+	Silent	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr5:140559367C>G	ENST00000239444.2	+	1	1997	c.1752C>G	c.(1750-1752)ggC>ggG	p.G584G	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	584	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGCCGGGCTACCTGGTGA	0.701																																																0			5											7	14	12					5																	140559367		1766	3747	5513	140539551	SO:0001819	synonymous_variant	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1752C>G	5.37:g.140559367C>G			140539551	B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																				0.701	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		G	140559367	C	G	140559367	2	3	363	1	0	0	0	0	0	0	0	1	11548	784	28	3		3	PCDHB8	5	140559367	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	83101	140559367	40355893	28	19928											
MFAP3	4238	genome.wustl.edu	37	5	153433236	153433236	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr5:153433236A>C	ENST00000436816.1	+	3	1271	c.1052A>C	c.(1051-1053)aAc>aCc	p.N351T	MFAP3_ENST00000322602.5_Missense_Mutation_p.N351T|MFAP3_ENST00000439768.2_Missense_Mutation_p.N205T	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	351					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		TCTAACTGTAACTACAAAGAT	0.423																																																0			5											86	85	85					5																	153433236		2203	4300	6503	153413429	SO:0001583	missense	4238				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.1052A>C	5.37:g.153433236A>C	ENSP00000409933:p.Asn351Thr		153413429	B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	ENST00000436816.1	37	CCDS4324.1	.	.	.	.	.	.	.	.	.	.	A	7.866	0.727171	0.15439	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.17054	2.3;2.3	5.9	-2.98	0.05513	.	1.032830	0.07636	N	0.929455	T	0.08088	0.0202	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	9	.	.	.	-0.0346	0.6411	0.00810	0.1976:0.3054:0.2097:0.2873	.	351	P55082	MFAP3_HUMAN	T	205;351;351	ENSP00000409933:N351T;ENSP00000322956:N351T	.	N	+	2	0	MFAP3	153413429	0.000000	0.05858	0.088000	0.20740	0.764000	0.43329	-0.085000	0.11250	-0.115000	0.11915	0.528000	0.53228	AAC		0.423	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		C	153433236	A	C	153433236	3	2	363	1	0	0	0	0	1	0	0	0	9515	43	2	5	1058	5	MFAP3	5	153433236	Missense_Mutation	SNP	A	TCGA-30-1718-01A-01W-0633-09	12873869	153433236	27482024	29	19929											
LARP1	23367	genome.wustl.edu	37	5	154172335	154172336	+	Frame_Shift_Ins	INS	-	-	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr5:154172335_154172336insA	ENST00000336314.4	+	4	511_512	c.487_488insA	c.(487-489)cgafs	p.R163fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	240					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGATTGCCAGCGAGGCGGGCAG	0.515																																																0			5																																								154152529	SO:0001589	frameshift_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	Exception_encountered	5.37:g.154172335_154172336insA	ENSP00000336721:p.Arg163fs		154152528	O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	CCDS4328.1																																																																																				0.515	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		A	154172336	-	A	154172335	7	5	363	1	0	1	1	0	0	0	0	0	8628	760	27	0	501	0	LARP1	5	154172335	Frame_Shift_Ins	INS	-	TCGA-30-1718-01A-01W-0633-09	739099	154172335	26742925	30	19930											
ITK	3702	genome.wustl.edu	37	5	156659396	156659396	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr5:156659396T>G	ENST00000422843.3	+	8	912	c.760T>G	c.(760-762)Ttg>Gtg	p.L254V	AC010609.1_ENST00000410154.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	254	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AAAACTTCTTTTGGACACAGT	0.368			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0			5											60	56	58					5																	156659396		2203	4300	6503	156591974	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.760T>G	5.37:g.156659396T>G	ENSP00000398655:p.Leu254Val		156591974	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890630	0.33348	.	.	ENSG00000113263	ENST00000422843	D	0.89485	-2.52	5.28	1.65	0.23941	Src homology-3 domain (1);SH2 motif (4);	0.229124	0.41712	D	0.000835	D	0.83862	0.5346	L	0.53671	1.685	0.09310	N	1	B	0.30146	0.27	B	0.34931	0.192	T	0.75473	-0.3305	10	0.72032	D	0.01	.	3.5541	0.07858	0.1939:0.2578:0.0:0.5483	.	254	Q08881	ITK_HUMAN	V	254	ENSP00000398655:L254V	ENSP00000398655:L254V	L	+	1	2	ITK	156591974	0.439000	0.25610	0.792000	0.32020	0.724000	0.41520	0.173000	0.16724	0.114000	0.18032	0.460000	0.39030	TTG		0.368	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			G	156659396	T	G	156659396	3	3	363	1	0	0	0	0	1	0	0	0	7909	1838	64	5	790	5	ITK	5	156659396	Missense_Mutation	SNP	T	TCGA-30-1718-01A-01W-0633-09	2487061	156659396	24255864	31	19931											
GRM4	2914	genome.wustl.edu	37	6	34059858	34059858	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr6:34059858C>T	ENST00000538487.2	-	3	981	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	GRM4_ENST00000374177.3_Missense_Mutation_p.A111T|GRM4_ENST00000609222.1_Missense_Mutation_p.A47T|GRM4_ENST00000535756.1_Missense_Mutation_p.A47T|GRM4_ENST00000374181.4_Missense_Mutation_p.A180T|GRM4_ENST00000544773.2_Missense_Mutation_p.A11T|GRM4_ENST00000455714.2_Missense_Mutation_p.A40T	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	180	Glutamate binding. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTGTGGAGGCGTAGCTGATC	0.647																																																0			6											101	82	89					6																	34059858		2203	4300	6503	34167836	SO:0001583	missense	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.538G>A	6.37:g.34059858C>T	ENSP00000440556:p.Ala180Thr		34167836	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926278	0.92319	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	3.91	3.91	0.45181	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.91157	0.7215	M	0.84082	2.675	0.80722	D	1	P;D;D;D;D;D	0.89917	0.897;0.994;1.0;0.998;0.998;1.0	P;D;D;D;D;D	0.79784	0.523;0.962;0.993;0.909;0.909;0.982	D	0.92178	0.5749	10	0.56958	D	0.05	.	16.069	0.80909	0.0:1.0:0.0:0.0	.	180;11;40;180;180;47	B7ZLU9;B7Z1T9;F5GXM5;A1L4F9;Q14833;B3KVL9	.;.;.;.;GRM4_HUMAN;.	T	180;111;47;11;180;40	ENSP00000363296:A180T;ENSP00000363292:A111T;ENSP00000437925:A47T;ENSP00000437730:A11T;ENSP00000440556:A180T;ENSP00000398456:A40T	ENSP00000363292:A111T	A	-	1	0	GRM4	34167836	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.647000	0.83462	2.001000	0.58596	0.561000	0.74099	GCC		0.647	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			T	34059858	C	T	34059858	3	4	363	1	0	0	0	0	1	0	0	0	6799	768	27	1	2236	1	GRM4	6	34059858	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09		34059858	137055209	32	19932											
TULP1	7287	genome.wustl.edu	37	6	35467783	35467783	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr6:35467783G>T	ENST00000229771.6	-	14	1549	c.1470C>A	c.(1468-1470)aaC>aaA	p.N490K	TEAD3_ENST00000338863.7_5'Flank|TULP1_ENST00000322263.4_Missense_Mutation_p.N437K	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	490					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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAATCTGGAAGTTCTTGACTG	0.572																																					GBM(55;1027 1091 11115 23439)											0			6											117	106	110					6																	35467783		2203	4300	6503	35575761	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.1470C>A	6.37:g.35467783G>T	ENSP00000229771:p.Asn490Lys		35575761	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425829	0.83667	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.95885	-3.84;-3.84	5.48	4.61	0.57282	Tubby, C-terminal (4);Tubby, C-terminal, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98566	0.9521	H	0.99379	4.54	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.98543	1.0633	10	0.87932	D	0	-24.3293	10.5037	0.44821	0.1484:0.0:0.8516:0.0	.	437;490	O00294-2;O00294	.;TULP1_HUMAN	K	490;437	ENSP00000229771:N490K;ENSP00000319414:N437K	ENSP00000229771:N490K	N	-	3	2	TULP1	35575761	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.000000	0.49481	1.315000	0.45114	0.491000	0.48974	AAC		0.572	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			T	35467783	G	T	35467783	3	4	363	1	0	0	0	0	1	0	0	0	16773	1020	36	3	166	3	TULP1	6	35467783	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	1407925	35467783	135647284	33	19933											
BAI3	577	genome.wustl.edu	37	6	69666595	69666595	+	Silent	SNP	C	C	A	rs199826937	byFrequency	TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr6:69666595C>A	ENST00000370598.1	+	8	2240	c.1419C>A	c.(1417-1419)ggC>ggA	p.G473G		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	473	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G473G(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTGTGATGGCGGCTGGGAAA	0.493																																																1	Substitution - coding silent(1)	pancreas(1)	6											159	154	156					6																	69666595		2203	4300	6503	69723316	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1419C>A	6.37:g.69666595C>A			69723316	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.493	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	69666595	C	A	69666595	2	1	363	1	0	0	0	0	0	0	0	1	1300	755	27	3		3	BAI3	6	69666595	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	34198812	69666595	101448472	34	19934											
EEF1A1	1915	genome.wustl.edu	37	6	74229211	74229211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr6:74229211C>T	ENST00000316292.9	-	2	1164	c.173G>A	c.(172-174)tGg>tAg	p.W58*	EEF1A1_ENST00000309268.6_Nonsense_Mutation_p.W58*|EEF1A1_ENST00000331523.2_Nonsense_Mutation_p.W58*|EEF1A1_ENST00000491404.1_5'Flank	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	58	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ATCCAAGACCCAGGCATACTT	0.433											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			6											74	83	80					6																	74229211		2201	4295	6496	74285932	SO:0001587	stop_gained	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.173G>A	6.37:g.74229211C>T	ENSP00000339063:p.Trp58*	1151	74285932	P04719|P04720|Q6IQ15	Nonsense_Mutation	SNP	ENST00000316292.9	37	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335604	0.95758	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	.	.	.	3.86	3.86	0.44501	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3557	0.83234	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000339053:W58X	W	-	2	0	EEF1A1	74285932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.364000	0.79526	2.148000	0.66965	0.555000	0.69702	TGG		0.433	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		T	74229211	C	T	74229211	4	4	363	1	0	0	0	0	0	1	0	0	4923	595	21	2	1239	2	EEF1A1	6	74229211	Nonsense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	4562616	74229211	96885856	35	19935											
PLEKHG1	57480	genome.wustl.edu	37	6	151152186	151152186	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr6:151152186G>C	ENST00000358517.2	+	15	2150	c.1939G>C	c.(1939-1941)Ggg>Cgg	p.G647R	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G647R			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	647							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GACTCCCTTTGGGTCATCCAT	0.453																																																0			6											48	42	44					6																	151152186		2203	4300	6503	151193879	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1939G>C	6.37:g.151152186G>C	ENSP00000351318:p.Gly647Arg		151193879	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241379	0.58995	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.60040	0.22;0.22	5.28	5.28	0.74379	.	0.308856	0.37304	N	0.002143	T	0.63604	0.2525	L	0.60455	1.87	0.47341	D	0.999392	P;D;D	0.59767	0.933;0.986;0.986	P;P;P	0.56398	0.542;0.797;0.797	T	0.67872	-0.5558	10	0.87932	D	0	.	18.9666	0.92698	0.0:0.0:1.0:0.0	.	454;647;647	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	R	647	ENSP00000356297:G647R;ENSP00000351318:G647R	ENSP00000351318:G647R	G	+	1	0	PLEKHG1	151193879	1.000000	0.71417	0.999000	0.59377	0.240000	0.25518	8.784000	0.91818	2.496000	0.84212	0.555000	0.69702	GGG		0.453	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			C	151152186	G	C	151152186	3	2	363	1	0	0	0	0	1	0	0	0	12068	1348	47	3	1993	3	PLEKHG1	6	151152186	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	76922975	151152186	19962881	36	19936											
SYNE1	23345	genome.wustl.edu	37	6	152671323	152671323	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr6:152671323G>C	ENST00000367255.5	-	72	12482	c.11881C>G	c.(11881-11883)Cag>Gag	p.Q3961E	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q3961E|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3885E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3961					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCAATTGCTGGGTGATTGTC	0.552										HNSCC(10;0.0054)																																						0			6											111	98	103					6																	152671323		2203	4300	6503	152713016	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11881C>G	6.37:g.152671323G>C	ENSP00000356224:p.Gln3961Glu		152713016	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025928	0.75390	.	.	ENSG00000131018	ENST00000367255;ENST00000265368;ENST00000341594	T;T;T	0.33654	1.4;1.4;1.4	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000023	T	0.46014	0.1371	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.77557	0.99;0.99;0.99	T	0.22695	-1.0209	10	0.07990	T	0.79	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	3961;3961;3961	B7ZBC3;Q8NF91;E7EQI5	.;SYNE1_HUMAN;.	E	3961;3961;3885	ENSP00000356224:Q3961E;ENSP00000265368:Q3961E;ENSP00000341887:Q3885E	ENSP00000265368:Q3961E	Q	-	1	0	SYNE1	152713016	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.447000	0.97595	2.826000	0.97356	0.655000	0.94253	CAG		0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152671323	G	C	152671323	3	2	363	1	0	0	0	0	1	0	0	0	15445	1357	47	3	14885	3	SYNE1	6	152671323	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	1519137	152671323	18443744	37	19937											
TIAM2	26230	genome.wustl.edu	37	6	155578171	155578171	+	Frame_Shift_Del	DEL	A	A	-			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr6:155578171delA	ENST00000461783.3	+	29	6295	c.5022delA	c.(5020-5022)ctafs	p.L1674fs	TIAM2_ENST00000367174.2_Frame_Shift_Del_p.L1050fs|TIAM2_ENST00000275246.7_Frame_Shift_Del_p.L599fs|TIAM2_ENST00000318981.5_Frame_Shift_Del_p.L1674fs|TIAM2_ENST00000360366.4_Frame_Shift_Del_p.L1698fs|TIAM2_ENST00000529824.2_Frame_Shift_Del_p.L1703fs|TIAM2_ENST00000456144.1_Frame_Shift_Del_p.L1703fs|TIAM2_ENST00000456877.2_Frame_Shift_Del_p.L986fs|TIAM2_ENST00000528391.2_Frame_Shift_Del_p.L1018fs|RP11-477D19.2_ENST00000435295.1_RNA			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1674					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATTCTGTTCTAGAGCGAGAAT	0.453																																																0			6											79	78	78					6																	155578171		2203	4300	6503	155619863	SO:0001589	frameshift_variant	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.5022delA	6.37:g.155578171delA	ENSP00000437188:p.Leu1674fs		155619863	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Frame_Shift_Del	DEL	ENST00000461783.3	37	CCDS34558.1																																																																																				0.453	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		-	155578171	A	-	155578171	7	5	363	1	0	1	0	1	0	0	0	0	15891	407	15	0	5116	0	TIAM2	6	155578171	Frame_Shift_Del	DEL	A	TCGA-30-1718-01A-01W-0633-09	2906848	155578171	15536896	38	19938											
ARPC1B	10095	genome.wustl.edu	37	7	98984376	98984376	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr7:98984376G>A	ENST00000451682.1	+	5	442	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.V45M|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	45					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGACCAAGGTGCACGAGCT	0.582																																																0			7											162	144	150					7																	98984376		2203	4300	6503	98822312	SO:0001583	missense	10095			AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	704	protein-coding gene	gene with protein product	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	604223	"actin related protein 2/3 complex, subunit 1B (41 kD)"			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.133G>A	7.37:g.98984376G>A	ENSP00000389631:p.Val45Met		98822312	Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120445	0.56613	.	.	ENSG00000130429	ENST00000443222;ENST00000414376;ENST00000252725;ENST00000455009;ENST00000418347;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.321566	0.32687	N	0.005766	T	0.71065	0.3296	M	0.70903	2.155	0.37279	D	0.907757	B;B	0.30281	0.275;0.275	P;P	0.45881	0.496;0.496	T	0.74714	-0.3572	10	0.46703	T	0.11	-25.8127	12.4073	0.55447	0.0777:0.0:0.9223:0.0	.	45;45	A4D275;O15143	.;ARC1B_HUMAN	M	45	ENSP00000413173:V45M;ENSP00000398620:V45M;ENSP00000252725:V45M;ENSP00000410238:V45M;ENSP00000413067:V45M;ENSP00000403324:V45M;ENSP00000398110:V45M;ENSP00000403211:V45M;ENSP00000388802:V45M;ENSP00000389631:V45M	ENSP00000252725:V45M	V	+	1	0	ARPC1B	98822312	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	5.328000	0.65887	2.577000	0.86979	0.561000	0.74099	GTG		0.582	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		A	98984376	G	A	98984376	3	1	363	1	0	0	0	0	1	0	0	0	970	1261	44	2	139	2	ARPC1B	7	98984376	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09		98984376	60154287	39	19939											
COG5	10466	genome.wustl.edu	37	7	106876940	106876940	+	Silent	SNP	A	A	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr7:106876940A>T	ENST00000347053.3	-	17	2126	c.2076T>A	c.(2074-2076)ccT>ccA	p.P692P	COG5_ENST00000297135.3_Silent_p.P713P|COG5_ENST00000393603.2_Silent_p.P713P	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	692					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTTCACCAAGAGGTCTTATGA	0.388																																																0			7											90	86	87					7																	106876940		2203	4300	6503	106664176	SO:0001819	synonymous_variant	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2076T>A	7.37:g.106876940A>T			106664176	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Silent	SNP	ENST00000347053.3	37	CCDS5743.1																																																																																				0.388	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			T	106876940	A	T	106876940	2	4	363	1	0	0	0	0	0	0	0	1	3661	291	11	5		5	COG5	7	106876940	Silent	SNP	A	TCGA-30-1718-01A-01W-0633-09	7892564	106876940	52261723	40	19940											
CTTNBP2	83992	genome.wustl.edu	37	7	117431847	117431848	+	Frame_Shift_Ins	INS	-	-	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr7:117431847_117431848insT	ENST00000160373.3	-	4	1493_1494	c.1402_1403insA	c.(1402-1404)agtfs	p.S468fs	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	468	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGACGGAGGACTTTGGGTAGTA	0.47																																																0			7																																								117219084	SO:0001589	frameshift_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1403dupA	7.37:g.117431850_117431850dupT	ENSP00000160373:p.Ser468fs		117219083	O43389|Q7LG11|Q9C0A5	Frame_Shift_Ins	INS	ENST00000160373.3	37	CCDS5774.1																																																																																				0.47	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		T	117431848	-	T	117431847	7	5	363	1	0	1	1	0	0	0	0	0	4045	565	20	0	3668	0	CTTNBP2	7	117431847	Frame_Shift_Ins	INS	-	TCGA-30-1718-01A-01W-0633-09	10554907	117431847	41706816	41	19941											
STC1	6781	genome.wustl.edu	37	8	23702428	23702428	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr8:23702428T>C	ENST00000290271.2	-	4	882	c.599A>G	c.(598-600)gAc>gGc	p.D200G	STC1_ENST00000524323.1_Missense_Mutation_p.D131G	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	200					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGCACAGTGGTCTGTCTGCAG	0.542																																																0			8											190	162	172					8																	23702428		2203	4300	6503	23758373	SO:0001583	missense	6781				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.599A>G	8.37:g.23702428T>C	ENSP00000290271:p.Asp200Gly		23758373	B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.881765	0.51908	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.98	5.98	0.97165	.	0.129792	0.64402	D	0.000001	T	0.51975	0.1706	L	0.36672	1.1	0.51012	D	0.999908	P	0.35468	0.503	B	0.37650	0.255	T	0.53443	-0.8438	9	0.48119	T	0.1	-20.2321	15.3021	0.73962	0.0:0.0:0.0:1.0	.	200	P52823	STC1_HUMAN	G	200;131;131	.	ENSP00000290271:D200G	D	-	2	0	STC1	23758373	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.162000	0.77515	2.288000	0.76882	0.528000	0.53228	GAC		0.542	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			C	23702428	T	C	23702428	3	2	363	1	0	0	0	0	1	0	0	0	15277	1667	58	4	148	4	STC1	8	23702428	Missense_Mutation	SNP	T	TCGA-30-1718-01A-01W-0633-09		23702428	122661594	42	19942											
TGS1	96764	genome.wustl.edu	37	8	56686213	56686213	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr8:56686213G>A	ENST00000260129.5	+	1	513	c.36G>A	c.(34-36)atG>atA	p.M12I	TMEM68_ENST00000334667.2_5'Flank|TMEM68_ENST00000519784.1_5'Flank|TMEM68_ENST00000434581.2_5'Flank|TMEM68_ENST00000523073.1_5'Flank|TMEM68_ENST00000521229.1_5'Flank|TMEM68_ENST00000522576.1_5'Flank	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	12					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGGCGGAAATGTTTCTCTTCA	0.552																																					Esophageal Squamous(34;275 823 4842 34837 48447)											0			8											133	131	132					8																	56686213		2203	4300	6503	56848767	SO:0001583	missense	96764			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.36G>A	8.37:g.56686213G>A	ENSP00000260129:p.Met12Ile		56848767	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388094	0.82902	.	.	ENSG00000137574	ENST00000260129	T	0.09911	2.93	4.97	4.97	0.65823	.	0.210963	0.49916	D	0.000129	T	0.29190	0.0726	M	0.63428	1.95	0.36875	D	0.889106	D	0.69078	0.997	D	0.73380	0.98	T	0.02958	-1.1089	10	0.38643	T	0.18	-22.3005	15.4472	0.75240	0.0:0.0:1.0:0.0	.	12	Q96RS0	TGS1_HUMAN	I	12	ENSP00000260129:M12I	ENSP00000260129:M12I	M	+	3	0	TGS1	56848767	0.998000	0.40836	0.964000	0.40570	0.748000	0.42578	4.114000	0.57858	2.735000	0.93741	0.655000	0.94253	ATG		0.552	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		A	56686213	G	A	56686213	3	1	363	1	0	0	0	0	1	0	0	0	15837	1377	48	2	38	2	TGS1	8	56686213	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	32983785	56686213	89677809	43	19943											
FLJ43860	389690	genome.wustl.edu	37	8	142477543	142477543	+	RNA	SNP	T	T	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr8:142477543T>C	ENST00000430863.1	-	0	2358					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GTGAGCAGCATCTCGGAGGCT	0.697																																																0			8											29	33	32					8																	142477543		2024	4169	6193	142546725			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142477543T>C			142546725		Missense_Mutation	SNP	ENST00000430863.1	37																																																																																					0.697	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		C	142477543	T	C	142477543	1	2	363	0	1	0	0	0	0	0	0	0	5930	1435	50	4		4	FLJ43860	8	142477543	RNA	SNP	T	TCGA-30-1718-01A-01W-0633-09	85791330	142477543	3886479	44	19944											
MPDZ	8777	genome.wustl.edu	37	9	13224390	13224390	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr9:13224390T>A	ENST00000319217.7	-	4	623	c.376A>T	c.(376-378)Atc>Ttc	p.I126F	MPDZ_ENST00000541718.1_Missense_Mutation_p.I126F|MPDZ_ENST00000546205.1_Missense_Mutation_p.I126F|MPDZ_ENST00000536827.1_Missense_Mutation_p.I126F|MPDZ_ENST00000381022.2_Missense_Mutation_p.I126F|MPDZ_ENST00000381015.4_Missense_Mutation_p.I126F|MPDZ_ENST00000447879.1_Missense_Mutation_p.I126F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	126					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATATTTTTGATAAGCTGATCA	0.338																																																0			9											112	107	109					9																	13224390		1829	4080	5909	13214390	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.376A>T	9.37:g.13224390T>A	ENSP00000320006:p.Ile126Phe		13214390	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	T	19.39	3.817898	0.71028	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.17054	2.35;2.3;2.3;2.3;2.33;2.35;2.35	5.72	4.56	0.56223	.	0.142508	0.32055	N	0.006648	T	0.31009	0.0783	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.987;0.985;0.992	T	0.02132	-1.1208	10	0.66056	D	0.02	.	12.8182	0.57677	0.0:0.0:0.1367:0.8633	.	126;126;126	B7ZMI4;O75970-3;O75970-2	.;.;.	F	126	ENSP00000320006:I126F;ENSP00000439807:I126F;ENSP00000370410:I126F;ENSP00000444151:I126F;ENSP00000415208:I126F;ENSP00000370403:I126F;ENSP00000446358:I126F	ENSP00000320006:I126F	I	-	1	0	MPDZ	13214390	0.997000	0.39634	0.999000	0.59377	0.994000	0.84299	2.491000	0.45303	0.954000	0.37851	0.533000	0.62120	ATC		0.338	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		A	13224390	T	A	13224390	3	1	363	1	0	0	0	0	1	0	0	0	9722	1406	49	5	5921	5	MPDZ	9	13224390	Missense_Mutation	SNP	T	TCGA-30-1718-01A-01W-0633-09		13224390	127989041	45	19945											
C9orf79	286234	genome.wustl.edu	37	9	90500105	90500105	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr9:90500105G>A	ENST00000325643.5	+	4	769	c.703G>A	c.(703-705)Gca>Aca	p.A235T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	235	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAAATGCCCTGCAACCCAGCC	0.612																																																0			9											97	108	104					9																	90500105		2203	4300	6503	89689925	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.703G>A	9.37:g.90500105G>A	ENSP00000322640:p.Ala235Thr		89689925	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	6.109	0.388418	0.11581	.	.	ENSG00000177992	ENST00000325643	T	0.03635	3.86	0.781	0.781	0.18561	.	.	.	.	.	T	0.03651	0.0104	L	0.44542	1.39	0.09310	N	1	P	0.45715	0.865	P	0.44518	0.452	T	0.32455	-0.9906	9	0.10377	T	0.69	.	4.8363	0.13466	0.0:0.0:1.0:0.0	.	235	Q6ZUB1	CI079_HUMAN	T	235	ENSP00000322640:A235T	ENSP00000322640:A235T	A	+	1	0	C9orf79	89689925	0.055000	0.20627	0.015000	0.15790	0.027000	0.11550	0.889000	0.28282	0.675000	0.31264	0.455000	0.32223	GCA		0.612	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		A	90500105	G	A	90500105	3	1	363	1	0	0	0	0	1	0	0	0	2497	1319	46	2	717	2	C9orf79	9	90500105	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	77275715	90500105	50713326	46	19946											
MUSK	4593	genome.wustl.edu	37	9	113562774	113562774	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr9:113562774G>A	ENST00000374448.4	+	15	2250	c.2116G>A	c.(2116-2118)Gcc>Acc	p.A706T	MUSK_ENST00000189978.5_Missense_Mutation_p.A706T|MUSK_ENST00000416899.2_Missense_Mutation_p.A698T	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	706	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCTTTGCATTGCCAGGCAGGT	0.582																																																0			9											111	115	113					9																	113562774		2007	4162	6169	112602595	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2116G>A	9.37:g.113562774G>A	ENSP00000363571:p.Ala706Thr		112602595	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100999	0.76983	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.53857	0.6	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.054964	0.85682	D	0.000000	T	0.71484	0.3345	M	0.74546	2.27	0.80722	D	1	P	0.51933	0.949	P	0.60609	0.877	T	0.73924	-0.3829	10	0.72032	D	0.01	.	18.6395	0.91390	0.0:0.0:1.0:0.0	.	706	O15146	MUSK_HUMAN	T	712;706;706;620;620;704	ENSP00000363571:A706T	ENSP00000189978:A712T	A	+	1	0	MUSK	112602595	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.016000	0.76393	2.705000	0.92388	0.650000	0.86243	GCC		0.582	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113562774	G	A	113562774	3	1	363	1	0	0	0	0	1	0	0	0	9989	1319	46	2	2206	2	MUSK	9	113562774	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	23062669	113562774	27650657	47	19947											
OR2K2	26248	genome.wustl.edu	37	9	114090591	114090591	+	Silent	SNP	G	G	T	rs139925839		TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr9:114090591G>T	ENST00000374428.1	-	1	209	c.210C>A	c.(208-210)ggC>ggA	p.G70G	OR2K2_ENST00000302681.1_Silent_p.G41G			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GAGTGCTGTTGCCCAAGAGCG	0.408																																																0			9						G		1,4405	2.1+/-5.4	0,1,2202	87	86	86		123	-5	0.8	9	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	OR2K2	NM_205859.1		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		41/317	114090591	1,13005	2203	4300	6503	113130412	SO:0001819	synonymous_variant	26248			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.210C>A	9.37:g.114090591G>T			113130412	Q2TA61|Q5VYK4|Q6IFI5	Silent	SNP	ENST00000374428.1	37																																																																																					0.408	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		T	114090591	G	T	114090591	2	4	363	1	0	0	0	0	0	0	0	1	11005	1306	46	3		3	OR2K2	9	114090591	Silent	SNP	G	TCGA-30-1718-01A-01W-0633-09	527817	114090591	27122840	48	19948											
PTGES2	80142	genome.wustl.edu	37	9	130884693	130884693	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr9:130884693A>C	ENST00000338961.6	-	6	1697	c.953T>G	c.(952-954)gTg>gGg	p.V318G	PTGES2_ENST00000277462.5_Missense_Mutation_p.V127G|PTGES2_ENST00000483625.1_5'Flank	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	318	GST C-terminal.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						GTCCTTGCCCACAGCAGCCAC	0.652																																																0			9											119	112	114					9																	130884693		2203	4300	6503	129924514	SO:0001583	missense	80142			AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"chromosome 9 open reading frame 15"	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.953T>G	9.37:g.130884693A>C	ENSP00000345341:p.Val318Gly		129924514	Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	ENST00000338961.6	37	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655729	0.88056	.	.	ENSG00000148334	ENST00000338961;ENST00000277462	T;T	0.47528	0.84;0.84	5.07	5.07	0.68467	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.181621	0.48286	D	0.000186	T	0.64182	0.2575	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.66368	-0.5941	10	0.56958	D	0.05	-0.7539	14.0186	0.64539	1.0:0.0:0.0:0.0	.	318	Q9H7Z7	PGES2_HUMAN	G	318;127	ENSP00000345341:V318G;ENSP00000277462:V127G	ENSP00000277462:V127G	V	-	2	0	PTGES2	129924514	1.000000	0.71417	0.996000	0.52242	0.871000	0.50021	8.637000	0.91014	1.918000	0.55548	0.459000	0.35465	GTG		0.652	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1			C	130884693	A	C	130884693	3	2	363	1	0	0	0	0	1	0	0	0	12750	159	6	5	188	5	PTGES2	9	130884693	Missense_Mutation	SNP	A	TCGA-30-1718-01A-01W-0633-09	16794102	130884693	10328738	49	19949											
CACNA1B	774	genome.wustl.edu	37	9	140968008	140968008	+	Silent	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr9:140968008G>A	ENST00000371372.1	+	33	4888	c.4743G>A	c.(4741-4743)caG>caA	p.Q1581Q	CACNA1B_ENST00000371365.2_5'Flank|CACNA1B_ENST00000371357.1_Silent_p.Q1580Q|CACNA1B_ENST00000277551.2_Silent_p.Q1581Q|CACNA1B_ENST00000277549.5_Silent_p.Q775Q|CACNA1B_ENST00000371355.4_Silent_p.Q1582Q|CACNA1B_ENST00000371363.1_Silent_p.Q1579Q	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1581					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCTCCGCCAGGGCTACACCA	0.577																																																0			9											74	82	79					9																	140968008		2094	4224	6318	140087829	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4743G>A	9.37:g.140968008G>A			140087829	B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		A	140968008	G	A	140968008	2	1	363	1	0	0	0	0	0	0	0	1	2539	991	35	2		2	CACNA1B	9	140968008	Silent	SNP	G	TCGA-30-1718-01A-01W-0633-09	10083315	140968008	245423	50	19950											
WDR37	22884	genome.wustl.edu	37	10	1142163	1142163	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr10:1142163C>A	ENST00000358220.1	+	9	847	c.703C>A	c.(703-705)Ccc>Acc	p.P235T	WDR37_ENST00000381329.1_Missense_Mutation_p.P235T|WDR37_ENST00000263150.4_Missense_Mutation_p.P235T			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	235										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GCTGCCGACACCCCAGCCTGT	0.483																																																0			10											130	112	118					10																	1142163		2203	4300	6503	1132163	SO:0001583	missense	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.703C>A	10.37:g.1142163C>A	ENSP00000350954:p.Pro235Thr		1132163	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743225	0.69418	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;T;T;T	0.74947	-0.02;-0.81;-0.02;-0.89	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049623	0.85682	N	0.000000	T	0.77725	0.4173	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	0.997;0.979;1.0	P;P;D	0.85130	0.879;0.63;0.997	T	0.71705	-0.4512	10	0.13108	T	0.6	.	19.3984	0.94617	0.0:1.0:0.0:0.0	.	235;235;235	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	T	235;235;235;202	ENSP00000350954:P235T;ENSP00000370730:P235T;ENSP00000263150:P235T;ENSP00000404346:P202T	ENSP00000263150:P235T	P	+	1	0	WDR37	1132163	1.000000	0.71417	0.806000	0.32338	0.606000	0.37113	4.722000	0.61958	2.587000	0.87381	0.643000	0.83706	CCC		0.483	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		A	1142163	C	A	1142163	3	1	363	1	0	0	0	0	1	0	0	0	17291	507	18	3	733	3	WDR37	10	1142163	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09		1142163	134392584	51	19951											
ZNF239	8187	genome.wustl.edu	37	10	44053447	44053447	+	Silent	SNP	A	A	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr10:44053447A>G	ENST00000306006.6	-	2	733	c.81T>C	c.(79-81)atT>atC	p.I27I	ZNF239_ENST00000535642.1_Silent_p.I27I|ZNF239_ENST00000426961.1_Silent_p.I27I|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Silent_p.I27I	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GACAAGGGGAAATATCTAGTT	0.453																																																0			10											78	72	74					10																	44053447		1923	4106	6029	43373453	SO:0001819	synonymous_variant	8187			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"Zinc fingers, C2H2-type"	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.81T>C	10.37:g.44053447A>G			43373453	Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	37	CCDS41502.1																																																																																				0.453	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			G	44053447	A	G	44053447	2	3	363	1	0	0	0	0	0	0	0	1	17791	10	1	4		4	ZNF239	10	44053447	Silent	SNP	A	TCGA-30-1718-01A-01W-0633-09	42911284	44053447	91481300	52	19952											
COL17A1	1308	genome.wustl.edu	37	10	105798222	105798222	+	Silent	SNP	C	C	T	rs368653483		TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr10:105798222C>T	ENST00000353479.5	-	45	3302	c.3012G>A	c.(3010-3012)ccG>ccA	p.P1004P	COL17A1_ENST00000369733.3_Silent_p.P959P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1004	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAGAGCCCGGAGGCCCAG	0.607													C|||	1	0.000199681	0	0	5008	,	,		15229	0		0	False		,,,				2504	0.001															0			10											94	104	101					10																	105798222		2200	4296	6496	105788212	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3012G>A	10.37:g.105798222C>T			105788212	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	CCDS7554.1																																																																																				0.607	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		T	105798222	C	T	105798222	2	4	363	1	0	0	0	0	0	0	0	1	3674	639	23	1		1	COL17A1	10	105798222	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	61744775	105798222	29736525	53	19953											
TDRD1	56165	genome.wustl.edu	37	10	115980603	115980603	+	Splice_Site	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr10:115980603G>T	ENST00000369280.1	+	19	3230		c.e19+1		TDRD1_ENST00000251864.2_Splice_Site|TDRD1_ENST00000422662.1_Splice_Site|TDRD1_ENST00000369281.2_Splice_Site|TDRD1_ENST00000369282.1_Splice_Site			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1						DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GGACTTCAAGGTAACATTTTA	0.308																																																0			10											55	56	55					10																	115980603		2203	4300	6503	115970593	SO:0001630	splice_region_variant	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2770+1G>T	10.37:g.115980603G>T			115970593	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Splice_Site	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	G	16.28	3.078040	0.55753	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8935	0.35449	0.1249:0.0:0.8751:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDRD1	115970593	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.432000	0.59922	2.707000	0.92482	0.563000	0.77884	.		0.308	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		Intron	T	115980603	G	T	115980603	5	4	363	1	0	0	0	0	0	0	1	0	15730	1275	44	3	2841	3	TDRD1	10	115980603	Splice_Site	SNP	G	TCGA-30-1718-01A-01W-0633-09	10182381	115980603	19554144	54	19954											
ADAM12	8038	genome.wustl.edu	37	10	127806692	127806692	+	Missense_Mutation	SNP	C	C	T	rs369702251		TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr10:127806692C>T	ENST00000368679.4	-	6	836	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	ADAM12_ENST00000368676.4_Missense_Mutation_p.R176Q	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	176					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACATGATCCCCGGACGCTTTT	0.458																																																0			10						C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	201	176	185		527,527	3.1	0.1	10		185	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADAM12	NM_021641.3,NM_003474.4	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	176/739,176/910	127806692	1,13005	2203	4300	6503	127796682	SO:0001583	missense	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.527G>A	10.37:g.127806692C>T	ENSP00000357668:p.Arg176Gln		127796682	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	7.496	0.651600	0.14516	0.0	1.16E-4	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21734	4.77;1.99;3.68	5.03	3.13	0.36017	.	0.694155	0.13701	N	0.368781	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.002;0.002;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.003;0.003;0.001	T	0.37776	-0.9691	10	0.13470	T	0.59	.	3.0964	0.06311	0.1715:0.5125:0.2191:0.0969	.	173;173;176;173;176	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	Q	176;176;173	ENSP00000357668:R176Q;ENSP00000357665:R176Q;ENSP00000391268:R173Q	ENSP00000357665:R176Q	R	-	2	0	ADAM12	127796682	0.385000	0.25172	0.099000	0.21106	0.007000	0.05969	0.980000	0.29513	0.660000	0.30964	0.655000	0.94253	CGG		0.458	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			T	127806692	C	T	127806692	3	4	363	1	0	0	0	0	1	0	0	0	236	652	23	1	2382	1	ADAM12	10	127806692	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	11826089	127806692	7728055	55	19955											
SLC6A5	9152	genome.wustl.edu	37	11	20636312	20636312	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr11:20636312A>G	ENST00000525748.1	+	6	1346	c.1073A>G	c.(1072-1074)aAt>aGt	p.N358S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	358					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACAATGGTTAATTTCACCAGC	0.398																																																0			11											179	161	167					11																	20636312		2203	4300	6503	20592888	SO:0001583	missense	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1073A>G	11.37:g.20636312A>G	ENSP00000434364:p.Asn358Ser		20592888	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.507148	0.64410	.	.	ENSG00000165970	ENST00000525748	T	0.74526	-0.85	5.71	5.71	0.89125	.	0.317330	0.37178	N	0.002211	T	0.66944	0.2841	L	0.35487	1.065	0.80722	D	1	B	0.18310	0.027	B	0.20384	0.029	T	0.63808	-0.6553	10	0.54805	T	0.06	.	15.65	0.77084	1.0:0.0:0.0:0.0	.	358	Q9Y345	SC6A5_HUMAN	S	358	ENSP00000434364:N358S	ENSP00000434364:N358S	N	+	2	0	SLC6A5	20592888	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.256000	0.89848	2.178000	0.69098	0.482000	0.46254	AAT		0.398	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		G	20636312	A	G	20636312	3	3	363	1	0	0	0	0	1	0	0	0	14690	101	4	4	1095	4	SLC6A5	11	20636312	Missense_Mutation	SNP	A	TCGA-30-1718-01A-01W-0633-09		20636312	114370204	56	19956											
CKAP5	9793	genome.wustl.edu	37	11	46832595	46832595	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr11:46832595C>G	ENST00000529230.1	-	5	638	c.592G>C	c.(592-594)Gct>Cct	p.A198P	CKAP5_ENST00000312055.5_Missense_Mutation_p.A198P|CKAP5_ENST00000354558.3_Missense_Mutation_p.A198P|CKAP5_ENST00000415402.1_Missense_Mutation_p.A198P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	198					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTCTCAGAGCATCCCGAATC	0.383																																					Ovarian(4;85 273 2202 4844 13323)											0			11											88	87	87					11																	46832595		2201	4299	6500	46789171	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.592G>C	11.37:g.46832595C>G	ENSP00000432768:p.Ala198Pro		46789171	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681234	0.88542	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.85	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.046013	0.85682	D	0.000000	T	0.66107	0.2756	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.963;0.988;1.0	P;P;D	0.85130	0.698;0.698;0.997	T	0.65825	-0.6074	10	0.37606	T	0.19	-9.585	15.0762	0.72080	0.0:0.9317:0.0:0.0683	.	198;198;198	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	P	198	ENSP00000432768:A198P;ENSP00000395302:A198P;ENSP00000310227:A198P;ENSP00000346566:A198P	ENSP00000310227:A198P	A	-	1	0	CKAP5	46789171	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.995000	0.70631	1.478000	0.48253	0.563000	0.77884	GCT		0.383	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		G	46832595	C	G	46832595	3	3	363	1	0	0	0	0	1	0	0	0	3445	710	25	3	5666	3	CKAP5	11	46832595	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	26196283	46832595	88173921	57	19957											
SPRYD5	84767	genome.wustl.edu	37	11	55652991	55652991	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr11:55652991C>G	ENST00000449290.2	+	2	179	c.87C>G	c.(85-87)gaC>gaG	p.D29E	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	29						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCACCATAGACTGTGGGCACA	0.502																																																0			11											25	22	23					11																	55652991		692	1590	2282	55409567	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.87C>G	11.37:g.55652991C>G	ENSP00000395086:p.Asp29Glu		55409567	A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	10.58	1.388669	0.25118	.	.	ENSG00000124900	ENST00000449290	T	0.05996	3.36	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.06188	0.0160	N	0.10733	0.035	0.58432	D	0.999999	D	0.71674	0.998	D	0.71870	0.975	T	0.56135	-0.8029	9	0.44086	T	0.13	.	0.7956	0.01065	0.2106:0.3766:0.2104:0.2024	.	29	Q9BSJ1	SPRY5_HUMAN	E	29	ENSP00000395086:D29E	ENSP00000395086:D29E	D	+	3	2	SPRYD5	55409567	0.001000	0.12720	0.088000	0.20740	0.091000	0.18340	-2.259000	0.01178	-2.088000	0.00861	-1.353000	0.01230	GAC		0.502	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55652991	C	G	55652991	3	3	363	1	0	0	0	0	1	0	0	0	15113	564	20	3	89	3	SPRYD5	11	55652991	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	8820396	55652991	79353525	58	19958											
OR8H3	390152	genome.wustl.edu	37	11	55890364	55890364	+	Silent	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr11:55890364C>T	ENST00000313472.3	+	1	516	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GTGACTCAAACATAATTCATC	0.438																																																0			11											254	227	236					11																	55890364		2201	4296	6497	55646940	SO:0001819	synonymous_variant	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.516C>T	11.37:g.55890364C>T			55646940	Q6IFB7	Silent	SNP	ENST00000313472.3	37	CCDS31519.1																																																																																				0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		T	55890364	C	T	55890364	2	4	363	1	0	0	0	0	0	0	0	1	11239	477	17	2		2	OR8H3	11	55890364	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	237373	55890364	79116152	59	19959											
NRXN2	9379	genome.wustl.edu	37	11	64418975	64418975	+	Silent	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr11:64418975C>T	ENST00000377551.1	-	13	2881	c.2670G>A	c.(2668-2670)caG>caA	p.Q890Q	NRXN2_ENST00000409571.1_Silent_p.Q883Q|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Silent_p.Q890Q|NRXN2_ENST00000377559.3_Silent_p.Q850Q			Q9P2S2	NRX2A_HUMAN	neurexin 2	890	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCATGTAGGGCTGGCCATTGA	0.572											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											101	69	80					11																	64418975		2201	4297	6498	64175551	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2670G>A	11.37:g.64418975C>T		1076	64175551	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																				0.572	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		T	64418975	C	T	64418975	2	4	363	1	0	0	0	0	0	0	0	1	10666	796	28	2		2	NRXN2	11	64418975	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	8528611	64418975	70587541	60	19960											
PRSS23	11098	genome.wustl.edu	37	11	86518981	86518981	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr11:86518981C>T	ENST00000280258.5	+	2	721	c.296C>T	c.(295-297)aCg>aTg	p.T99M	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.T67M	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	99						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCACAGAGACGCAGGTGGGC	0.542																																																0			11											59	54	56					11																	86518981		2201	4299	6500	86196629	SO:0001583	missense	11098			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.296C>T	11.37:g.86518981C>T	ENSP00000280258:p.Thr99Met		86196629	B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256908	0.80246	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	5.8	0.92144	Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82168	-0.0591	8	.	.	.	-16.5162	20.0545	0.97645	0.0:1.0:0.0:0.0	.	67;99	B4E2J3;O95084	.;PRS23_HUMAN	M	99;99;67	.	.	T	+	2	0	PRSS23	86196629	1.000000	0.71417	0.963000	0.40424	0.897000	0.52465	7.395000	0.79876	2.748000	0.94277	0.655000	0.94253	ACG		0.542	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		T	86518981	C	T	86518981	3	4	363	1	0	0	0	0	1	0	0	0	12623	536	19	1	298	1	PRSS23	11	86518981	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	22100006	86518981	48487535	61	19961											
FAT3	120114	genome.wustl.edu	37	11	92534588	92534588	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr11:92534588G>T	ENST00000298047.6	+	9	8426	c.8409G>T	c.(8407-8409)aaG>aaT	p.K2803N	FAT3_ENST00000409404.2_Missense_Mutation_p.K2803N|FAT3_ENST00000525166.1_Missense_Mutation_p.K2653N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2803	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGATATCAAGGTATTGGATT	0.433										TCGA Ovarian(4;0.039)																																						0			11											64	63	63					11																	92534588		1899	4117	6016	92174236	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8409G>T	11.37:g.92534588G>T	ENSP00000298047:p.Lys2803Asn		92174236	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	16.36	3.101652	0.56183	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60920	0.15;0.15;0.15	5.98	5.98	0.97165	.	.	.	.	.	T	0.66645	0.2810	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62158	-0.6913	9	0.33940	T	0.23	.	14.5724	0.68220	0.0694:0.0:0.9306:0.0	.	2803	Q8TDW7-3	.	N	2803;2803;2653	ENSP00000298047:K2803N;ENSP00000387040:K2803N;ENSP00000432586:K2653N	ENSP00000298047:K2803N	K	+	3	2	FAT3	92174236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.830000	0.39131	2.837000	0.97791	0.591000	0.81541	AAG		0.433	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92534588	G	T	92534588	3	4	363	1	0	0	0	0	1	0	0	0	5691	991	35	3	8443	3	FAT3	11	92534588	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	6015607	92534588	42471928	62	19962											
OR10G8	219869	genome.wustl.edu	37	11	123901140	123901140	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr11:123901140G>T	ENST00000431524.1	+	1	844	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGATGGAGTTGTGGCCGTTTT	0.517																																																0			11											136	126	129					11																	123901140		2201	4299	6500	123406350	SO:0001583	missense	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.811G>T	11.37:g.123901140G>T	ENSP00000389072:p.Val271Leu		123406350	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	9.599	1.128324	0.21041	.	.	ENSG00000234560	ENST00000431524	T	0.37235	1.21	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35870	N	0.002925	T	0.34803	0.0910	N	0.24115	0.695	0.09310	N	1	P	0.52692	0.955	P	0.59546	0.859	T	0.04961	-1.0915	10	0.66056	D	0.02	.	4.8695	0.13625	0.1185:0.0:0.6684:0.2132	.	271	Q8NGN5	O10G8_HUMAN	L	271	ENSP00000389072:V271L	ENSP00000389072:V271L	V	+	1	0	OR10G8	123406350	0.000000	0.05858	0.211000	0.23655	0.144000	0.21451	-0.109000	0.10840	1.611000	0.50210	0.557000	0.71058	GTG		0.517	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		T	123901140	G	T	123901140	3	4	363	1	0	0	0	0	1	0	0	0	10903	1377	48	3	813	3	OR10G8	11	123901140	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	31366552	123901140	11105376	63	19963											
KDM5A	5927	genome.wustl.edu	37	12	404852	404852	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr12:404852G>A	ENST00000399788.2	-	26	4704	c.4342C>T	c.(4342-4344)Ctt>Ttt	p.L1448F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L1448F|KDM5A_ENST00000540838.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1448					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACCATCATAAGTTCTTCCAGT	0.517			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0			12											183	175	178					12																	404852		1898	4118	6016	275113	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4342C>T	12.37:g.404852G>A	ENSP00000382688:p.Leu1448Phe		275113	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197640	0.79015	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.92495	-3.05;-3.03	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96056	0.8715	M	0.74467	2.265	0.58432	D	0.999993	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	D	0.96147	0.9105	10	0.87932	D	0	-13.2261	19.5762	0.95446	0.0:0.0:1.0:0.0	.	1448;1448	P29375;P29375-2	KDM5A_HUMAN;.	F	1448	ENSP00000382688:L1448F;ENSP00000372265:L1448F	ENSP00000372265:L1448F	L	-	1	0	KDM5A	275113	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.664000	0.83830	2.699000	0.92147	0.561000	0.74099	CTT		0.517	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		A	404852	G	A	404852	3	1	363	1	0	0	0	0	1	0	0	0	8133	1029	36	2	742	2	KDM5A	12	404852	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09		404852	133447043	64	19964											
CCDC77	84318	genome.wustl.edu	37	12	550094	550094	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr12:550094G>C	ENST00000239830.4	+	12	1431	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	CCDC77_ENST00000422000.1_Missense_Mutation_p.E386Q|CCDC77_ENST00000540180.1_Missense_Mutation_p.E386Q|CCDC77_ENST00000412006.2_Missense_Mutation_p.E386Q	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	418						centrosome (GO:0005813)|membrane (GO:0016020)		p.E418Q(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CCTGGAAGTAGAAGGCTTTAA	0.433																																																1	Substitution - Missense(1)	cervix(1)	12											89	82	84					12																	550094		2203	4300	6503	420355	SO:0001583	missense	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1252G>C	12.37:g.550094G>C	ENSP00000239830:p.Glu418Gln		420355	B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739935	0.69304	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.44881	0.91;0.91;1.31;0.91;0.91	5.94	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.84585	2.705	0.58432	D	0.999998	P	0.36683	0.565	B	0.33254	0.16	T	0.56986	-0.7888	10	0.48119	T	0.1	-18.2775	16.9863	0.86340	0.0:0.1276:0.8724:0.0	.	418	Q9BR77	CCD77_HUMAN	Q	386;386;386;418;386	ENSP00000440554:E386Q;ENSP00000391870:E386Q;ENSP00000445873:E386Q;ENSP00000239830:E418Q;ENSP00000412925:E386Q	ENSP00000239830:E418Q	E	+	1	0	CCDC77	420355	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	7.727000	0.84838	1.479000	0.48272	0.563000	0.77884	GAA		0.433	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		C	550094	G	C	550094	3	2	363	1	0	0	0	0	1	0	0	0	2851	943	33	3	1290	3	CCDC77	12	550094	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	145242	550094	133301801	65	19965											
FOXM1	2305	genome.wustl.edu	37	12	2968074	2968074	+	Silent	SNP	T	T	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr12:2968074T>C	ENST00000359843.3	-	9	2090	c.2022A>G	c.(2020-2022)caA>caG	p.Q674Q	Y_RNA_ENST00000410561.1_RNA|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000361953.3_Silent_p.Q659Q|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000342628.2_Silent_p.Q712Q	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	674					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGAGGAGCCTTTGCGGTGATT	0.597																																																0			12											46	52	50					12																	2968074		2203	4300	6503	2838335	SO:0001819	synonymous_variant	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2022A>G	12.37:g.2968074T>C			2838335	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1																																																																																				0.597	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		C	2968074	T	C	2968074	2	2	363	1	0	0	0	0	0	0	0	1	6018	1838	64	4		4	FOXM1	12	2968074	Silent	SNP	T	TCGA-30-1718-01A-01W-0633-09	2417980	2968074	130883821	66	19966											
WBP11	51729	genome.wustl.edu	37	12	14946678	14946678	+	Silent	SNP	T	T	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr12:14946678T>C	ENST00000261167.2	-	8	1133	c.900A>G	c.(898-900)gaA>gaG	p.E300E		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	300					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						ACTTCTTTTCTTCATTGTTGT	0.388																																																0			12											307	279	289					12																	14946678		2203	4300	6503	14837945	SO:0001819	synonymous_variant	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.900A>G	12.37:g.14946678T>C			14837945	Q96AY8	Silent	SNP	ENST00000261167.2	37	CCDS8666.1																																																																																				0.388	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		C	14946678	T	C	14946678	2	2	363	1	0	0	0	0	0	0	0	1	17258	1606	56	4		4	WBP11	12	14946678	Silent	SNP	T	TCGA-30-1718-01A-01W-0633-09	11978604	14946678	118905217	67	19967											
ATP12A	479	genome.wustl.edu	37	13	25265355	25265355	+	Silent	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr13:25265355C>T	ENST00000381946.3	+	8	1202	c.1035C>T	c.(1033-1035)gcC>gcT	p.A345A	ATP12A_ENST00000218548.6_Silent_p.A351A			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	345					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCATTGTGGCCAATGTGCCCG	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)											0			13											88	66	73					13																	25265355		2203	4300	6503	24163355	SO:0001819	synonymous_variant	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1035C>T	13.37:g.25265355C>T			24163355	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																				0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		T	25265355	C	T	25265355	2	4	363	1	0	0	0	0	0	0	0	1	1122	581	21	2		2	ATP12A	13	25265355	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09		25265355	89904523	68	19968											
FRY	10129	genome.wustl.edu	37	13	32752460	32752460	+	Silent	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr13:32752460C>G	ENST00000380250.3	+	21	3064	c.2568C>G	c.(2566-2568)ctC>ctG	p.L856L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	856						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTCTGCCTCTTCAGCTTCC	0.547																																																0			13											103	113	110					13																	32752460		2200	4299	6499	31650460	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2568C>G	13.37:g.32752460C>G			31650460	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																				0.547	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		G	32752460	C	G	32752460	2	3	363	1	0	0	0	0	0	0	0	1	6063	900	32	3		3	FRY	13	32752460	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	7487105	32752460	82417418	69	19969											
RAB20	55647	genome.wustl.edu	37	13	111176091	111176091	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr13:111176091C>A	ENST00000267328.3	-	2	839	c.626G>T	c.(625-627)aGa>aTa	p.R209I		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	209					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCTCTCAGCTCTCTGCTGTAA	0.537																																																0			13											148	122	130					13																	111176091		2203	4300	6503	109974092	SO:0001583	missense	55647			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"RAB, member RAS oncogene"	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.626G>T	13.37:g.111176091C>A	ENSP00000267328:p.Arg209Ile		109974092	Q5T9X5|Q9NX49	Missense_Mutation	SNP	ENST00000267328.3	37	CCDS9512.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415588	0.42817	.	.	ENSG00000139832	ENST00000267328	T	0.68181	-0.31	5.21	3.46	0.39613	.	0.181051	0.64402	D	0.000015	T	0.56077	0.1961	M	0.66939	2.045	0.58432	D	0.999994	P	0.35656	0.514	B	0.26864	0.074	T	0.51803	-0.8659	10	0.38643	T	0.18	-22.1009	6.8859	0.24199	0.0:0.5999:0.0:0.4001	.	209	Q9NX57	RAB20_HUMAN	I	209	ENSP00000267328:R209I	ENSP00000267328:R209I	R	-	2	0	RAB20	109974092	0.757000	0.28394	0.493000	0.27502	0.211000	0.24417	1.218000	0.32467	0.565000	0.29255	0.561000	0.74099	AGA		0.537	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2	NM_017817		A	111176091	C	A	111176091	3	1	363	1	0	0	0	0	1	0	0	0	12910	913	32	3	82	3	RAB20	13	111176091	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	78423631	111176091	3993787	70	19970											
DHRS2	10202	genome.wustl.edu	37	14	24108193	24108193	+	Silent	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr14:24108193G>C	ENST00000250383.6	+	2	596	c.120G>C	c.(118-120)gtG>gtC	p.V40V	DHRS2_ENST00000344777.7_Silent_p.V40V|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	40					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GGGTAGCCGTGGTCACGGGGT	0.602																																																0			14											75	77	76					14																	24108193		2203	4300	6503	23178033	SO:0001819	synonymous_variant	10202				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.120G>C	14.37:g.24108193G>C			23178033	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	CCDS9604.1																																																																																				0.602	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		C	24108193	G	C	24108193	2	2	363	1	0	0	0	0	0	0	0	1	4490	1335	47	3		3	DHRS2	14	24108193	Silent	SNP	G	TCGA-30-1718-01A-01W-0633-09		24108193	83241347	71	19971											
SLC8A3	6547	genome.wustl.edu	37	14	70633692	70633692	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr14:70633692C>G	ENST00000381269.2	-	2	2201	c.1448G>C	c.(1447-1449)aGg>aCg	p.R483T	SLC8A3_ENST00000357887.3_Missense_Mutation_p.R483T|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R483T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R483T|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R483T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	483	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTGCTCAACCTTACAAAGAA	0.537																																																0			14											128	131	130					14																	70633692		2203	4300	6503	69703445	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1448G>C	14.37:g.70633692C>G	ENSP00000370669:p.Arg483Thr		69703445	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750362	0.49257	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.54	5.54	0.83059	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	L	0.31371	0.925	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.996;0.996	D;D;D;D	0.87578	0.996;0.998;0.995;0.995	T	0.52586	-0.8556	10	0.62326	D	0.03	.	19.4841	0.95022	0.0:1.0:0.0:0.0	.	483;483;483;483	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	T	483	ENSP00000349392:R483T;ENSP00000370669:R483T;ENSP00000350560:R483T;ENSP00000436688:R483T;ENSP00000433531:R483T	ENSP00000349392:R483T	R	-	2	0	SLC8A3	69703445	1.000000	0.71417	0.995000	0.50966	0.548000	0.35241	4.986000	0.63851	2.592000	0.87571	0.650000	0.86243	AGG		0.537	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			G	70633692	C	G	70633692	3	3	363	1	0	0	0	0	1	0	0	0	14711	681	24	3	1474	3	SLC8A3	14	70633692	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	46525499	70633692	36715848	72	19972											
CYFIP1	23191	genome.wustl.edu	37	15	22998481	22998481	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr15:22998481A>G	ENST00000313077.7	+	28	3298	c.3173A>G	c.(3172-3174)cAt>cGt	p.H1058R	CYFIP1_ENST00000435939.2_Missense_Mutation_p.H627R|CYFIP1_ENST00000560848.1_Missense_Mutation_p.H1058R	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCCCCGCTGCATCTTGTCCCA	0.493																																																0			15											65	58	60					15																	22998481		2203	4300	6503	20549922	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3173A>G	15.37:g.22998481A>G	ENSP00000324549:p.His1058Arg		20549922		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595965	0.66332	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.21932	1.98;1.98	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	T	0.26122	0.0637	M	0.61703	1.905	0.80722	D	1	P;B	0.38420	0.63;0.31	B;B	0.38156	0.266;0.216	T	0.02269	-1.1185	10	0.30078	T	0.28	-29.6705	16.0225	0.80509	1.0:0.0:0.0:0.0	.	627;1058	Q7L576-2;Q7L576	.;CYFP1_HUMAN	R	1058;1060;627	ENSP00000324549:H1058R;ENSP00000405956:H627R	ENSP00000324549:H1058R	H	+	2	0	CYFIP1	20549922	1.000000	0.71417	0.888000	0.34837	0.261000	0.26267	9.281000	0.95811	2.198000	0.70561	0.533000	0.62120	CAT		0.493	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		G	22998481	A	G	22998481	3	3	363	1	0	0	0	0	1	0	0	0	4137	217	8	4	3660	4	CYFIP1	15	22998481	Missense_Mutation	SNP	A	TCGA-30-1718-01A-01W-0633-09		22998481	79532911	73	19973											
CSPG4	1464	genome.wustl.edu	37	15	75975061	75975061	+	Missense_Mutation	SNP	C	C	T	rs141642595	byFrequency	TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr15:75975061C>T	ENST00000308508.5	-	7	4762	c.4670G>A	c.(4669-4671)cGc>cAc	p.R1557H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1557	Gly/Ser-rich (glycosaminoglycan attachment domain).			R -> P (in Ref. 1; CAA65529). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGGCGGAAGCGGAAGCCTCC	0.672													C|||	2	0.000399361	0	0.0014	5008	,	,		15605	0		0.001	False		,,,				2504	0															0			15						C	HIS/ARG	4,4390	8.1+/-20.4	0,4,2193	40	39	40		4670	-8	0.1	15	dbSNP_134	40	36,8552	23.4+/-69.3	1,34,4259	yes	missense	CSPG4	NM_001897.4	29	1,38,6452	TT,TC,CC		0.4192,0.091,0.3081	benign	1557/2323	75975061	40,12942	2197	4294	6491	73762116	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4670G>A	15.37:g.75975061C>T	ENSP00000312506:p.Arg1557His		73762116	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.026	-1.371468	0.01225	9.1E-4	0.004192	ENSG00000173546	ENST00000308508	T	0.38887	1.11	4.61	-7.99	0.01131	.	1.451320	0.04302	N	0.347461	T	0.14442	0.0349	N	0.01668	-0.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22977	-1.0201	10	0.30854	T	0.27	.	7.7018	0.28627	0.0822:0.1919:0.0817:0.6442	.	1557	Q6UVK1	CSPG4_HUMAN	H	1557	ENSP00000312506:R1557H	ENSP00000312506:R1557H	R	-	2	0	CSPG4	73762116	0.185000	0.23213	0.083000	0.20561	0.059000	0.15707	-0.565000	0.05929	-1.719000	0.01382	-0.266000	0.10368	CGC		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75975061	C	T	75975061	3	4	363	1	0	0	0	0	1	0	0	0	3960	768	27	1	2314	1	CSPG4	15	75975061	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	52976580	75975061	26556331	74	19974											
IDH3A	3419	genome.wustl.edu	37	15	78452527	78452527	+	Nonsense_Mutation	SNP	A	A	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr15:78452527A>T	ENST00000299518.2	+	4	351	c.268A>T	c.(268-270)Aag>Tag	p.K90*	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000558554.1_Nonsense_Mutation_p.K90*	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	90					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						GTCCATGGATAAGAACAAGAT	0.453																																																0			15											67	62	63					15																	78452527		2196	4293	6489	76239582	SO:0001587	stop_gained	3419				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.268A>T	15.37:g.78452527A>T	ENSP00000299518:p.Lys90*		76239582	D3DW83|Q9H3X0	Nonsense_Mutation	SNP	ENST00000299518.2	37	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	A	38	6.994569	0.97990	.	.	ENSG00000166411	ENST00000299518	.	.	.	5.62	5.62	0.85841	.	0.043739	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6591	15.0195	0.71617	1.0:0.0:0.0:0.0	.	.	.	.	X	90	.	ENSP00000299518:K90X	K	+	1	0	IDH3A	76239582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.707000	0.68370	2.137000	0.66172	0.459000	0.35465	AAG		0.453	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		T	78452527	A	T	78452527	4	4	363	1	0	0	0	0	0	1	0	0	7496	363	13	5	282	5	IDH3A	15	78452527	Nonsense_Mutation	SNP	A	TCGA-30-1718-01A-01W-0633-09	2477466	78452527	24078865	75	19975											
EFTUD1	79631	genome.wustl.edu	37	15	82444003	82444003	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr15:82444003T>G	ENST00000268206.7	-	18	2960	c.2792A>C	c.(2791-2793)cAa>cCa	p.Q931P	EFTUD1_ENST00000359445.3_Missense_Mutation_p.Q880P	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	931					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCAGCCATCTTGTAGCTCTTG	0.463																																																0			15											140	140	140					15																	82444003		1957	4155	6112	80231058	SO:0001583	missense	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2792A>C	15.37:g.82444003T>G	ENSP00000268206:p.Gln931Pro		80231058	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	9.809	1.182685	0.21870	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.64085	-0.08;0.18	5.8	0.418	0.16429	Ribosomal protein S5 domain 2-type fold (1);	2.080720	0.02297	N	0.070792	T	0.51261	0.1664	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29701	-1.0003	10	0.49607	T	0.09	-8.9229	2.4607	0.04540	0.1119:0.1283:0.2321:0.5277	.	880;931	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	P	931;880	ENSP00000268206:Q931P;ENSP00000352418:Q880P	ENSP00000268206:Q931P	Q	-	2	0	EFTUD1	80231058	0.000000	0.05858	0.001000	0.08648	0.894000	0.52154	0.032000	0.13732	0.092000	0.17331	0.477000	0.44152	CAA		0.463	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		G	82444003	T	G	82444003	3	3	363	1	0	0	0	0	1	0	0	0	4960	1812	63	5	582	5	EFTUD1	15	82444003	Missense_Mutation	SNP	T	TCGA-30-1718-01A-01W-0633-09	3991476	82444003	20087389	76	19976											
RNF151	146310	genome.wustl.edu	37	16	2018849	2018850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr16:2018849_2018850insC	ENST00000569714.1	+	4	669_670	c.661_662insC	c.(661-663)gagfs	p.E221fs	RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Frame_Shift_Ins_p.E220fs	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	221					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						CCCACAGGAGGAGGCCGAGGCT	0.619																																																0			16																																								1958851	SO:0001589	frameshift_variant	146310			BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	Exception_encountered	16.37:g.2018849_2018850insC	ENSP00000456566:p.Glu221fs		1958850	Q8NHS5	Frame_Shift_Ins	INS	ENST00000569714.1	37	CCDS58405.1																																																																																				0.619	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		C	2018850	-	C	2018849	7	5	363	1	0	1	1	0	0	0	0	0	13455	1175	41	0	675	0	RNF151	16	2018849	Frame_Shift_Ins	INS	-	TCGA-30-1718-01A-01W-0633-09		2018849	88335904	77	19977											
SRRM2	23524	genome.wustl.edu	37	16	2815985	2815985	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr16:2815985G>T	ENST00000301740.8	+	11	6005	c.5456G>T	c.(5455-5457)gGt>gTt	p.G1819V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1819	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGAGGCTCTGGTTATCACTCA	0.632																																																0			16											38	45	43					16																	2815985		2198	4300	6498	2755986	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5456G>T	16.37:g.2815985G>T	ENSP00000301740:p.Gly1819Val		2755986	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339598	0.24339	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.34667	1.35	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000008	T	0.40595	0.1123	N	0.08118	0	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.50583	-0.8811	10	0.66056	D	0.02	-13.1113	14.803	0.69929	0.0:0.0:1.0:0.0	.	1819	Q9UQ35	SRRM2_HUMAN	V	1819;1819;1071	ENSP00000301740:G1819V	ENSP00000301740:G1819V	G	+	2	0	SRRM2	2755986	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.387000	0.66243	2.562000	0.86427	0.650000	0.86243	GGT		0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2815985	G	T	2815985	3	4	363	1	0	0	0	0	1	0	0	0	15171	1261	44	3	5494	3	SRRM2	16	2815985	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	797136	2815985	87538768	78	19978											
BTBD12	84464	genome.wustl.edu	37	16	3639991	3639991	+	Missense_Mutation	SNP	C	C	G	rs139544666	byFrequency	TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr16:3639991C>G	ENST00000294008.3	-	12	4288	c.3648G>C	c.(3646-3648)caG>caC	p.Q1216H		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1216	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCTCATCCTCCTGCTGCAGCA	0.592								Direct reversal of damage																																								0			16											50	54	53					16																	3639991		2197	4300	6497	3579992	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3648G>C	16.37:g.3639991C>G	ENSP00000294008:p.Gln1216His		3579992	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	1.019	-0.685509	0.03328	.	.	ENSG00000188827	ENST00000294008	T	0.18810	2.19	1.55	-2.5	0.06384	.	2.898080	0.00812	N	0.001513	T	0.12050	0.0293	N	0.12182	0.205	0.09310	N	1	B	0.21071	0.051	B	0.25405	0.06	T	0.19353	-1.0308	10	0.40728	T	0.16	.	3.6623	0.08244	0.0:0.2303:0.4246:0.3451	.	1216	Q8IY92	SLX4_HUMAN	H	1216	ENSP00000294008:Q1216H	ENSP00000294008:Q1216H	Q	-	3	2	SLX4	3579992	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.506000	0.06359	-0.711000	0.04995	0.655000	0.94253	CAG		0.592	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		G	3639991	C	G	3639991	3	3	363	1	0	0	0	0	1	0	0	0	1540	680	24	3	1872	3	BTBD12	16	3639991	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	824006	3639991	86714762	79	19979											
SMG1	23049	genome.wustl.edu	37	16	18875078	18875100	+	Frame_Shift_Del	DEL	TTGAGATGTAGCACTCACATGCT	TTGAGATGTAGCACTCACATGCT	-	rs560105140	byFrequency	TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	TTGAGATGTAGCACTCACATGCT	TTGAGATGTAGCACTCACATGCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr16:18875078_18875100delTTGAGATGTAGCACTCACATGCT	ENST00000446231.2	-	25	3979_4001	c.3567_3589delAGCATGTGAGTGCTACATCTCAA	c.(3565-3591)aaagcatgtgagtgctacatctcaattfs	p.KACECYISI1189fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.KACECYISI1189fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1189	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAATCGGCAATTGAGATGTAGCACTCACATGCTTTATTTCCTA	0.408																																																0			16																																								18782601	SO:0001589	frameshift_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3567_3589delAGCATGTGAGTGCTACATCTCAA	16.37:g.18875078_18875100delTTGAGATGTAGCACTCACATGCT	ENSP00000402515:p.Lys1189fs		18782579	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	ENST00000446231.2	37	CCDS45430.1																																																																																				0.408	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		-	18875100	TTGAGATGTAGCACTCACATGCT	-	18875078	7	5	363	1	0	1	0	1	0	0	0	0	14798	1493	52	0	7552	0	SMG1	16	18875078	Frame_Shift_Del	DEL	TTGAGATGTAGCACTCACATGCT	TCGA-30-1718-01A-01W-0633-09	15235087	18875078	71479675	80	19980											
MVP	9961	genome.wustl.edu	37	16	29848136	29848136	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr16:29848136A>G	ENST00000357402.5	+	7	904	c.766A>G	c.(766-768)Aca>Gca	p.T256A	MVP_ENST00000395353.1_Missense_Mutation_p.T256A|MVP_ENST00000452209.2_Missense_Mutation_p.H70R	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	256					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTGCAGGACACAGAGGCCCA	0.657																																																0			16											56	51	52					16																	29848136		2196	4300	6496	29755637	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.766A>G	16.37:g.29848136A>G	ENSP00000349977:p.Thr256Ala		29755637	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.83|13.83	2.354247|2.354247	0.41700|0.41700	.|.	.|.	ENSG00000013364|ENSG00000013364	ENST00000452209|ENST00000357402;ENST00000395353	T|T;T	0.62941|0.33216	-0.01|1.42;1.42	5.37|5.37	4.26|4.26	0.50523|0.50523	.|.	.|0.158693	.|0.56097	.|D	.|0.000030	T|T	0.19005|0.19005	0.0456|0.0456	N|N	0.21282|0.21282	0.65|0.65	0.22873|0.22873	N|N	0.998627|0.998627	.|B	.|0.15930	.|0.015	.|B	.|0.16289	.|0.015	T|T	0.11542|0.11542	-1.0583|-1.0583	7|10	0.87932|0.23891	D|T	0|0.37	-22.0708|-22.0708	9.891|9.891	0.41290|0.41290	0.914:0.0:0.086:0.0|0.914:0.0:0.086:0.0	.|.	.|256	.|Q14764	.|MVP_HUMAN	R|A	70|256	ENSP00000387916:H70R|ENSP00000349977:T256A;ENSP00000378760:T256A	ENSP00000387916:H70R|ENSP00000349977:T256A	H|T	+|+	2|1	0|0	MVP|MVP	29755637|29755637	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.883000|0.883000	0.51084|0.51084	2.796000|2.796000	0.47869|0.47869	2.156000|2.156000	0.67533|0.67533	0.379000|0.379000	0.24179|0.24179	CAC|ACA		0.657	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		G	29848136	A	G	29848136	3	3	363	1	0	0	0	0	1	0	0	0	9996	159	6	4	788	4	MVP	16	29848136	Missense_Mutation	SNP	A	TCGA-30-1718-01A-01W-0633-09	10973058	29848136	60506617	81	19981											
WSCD1	23302	genome.wustl.edu	37	17	6021404	6021404	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr17:6021404C>T	ENST00000574946.1	+	8	1661	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	WSCD1_ENST00000574232.1_Missense_Mutation_p.A424V|WSCD1_ENST00000539421.1_Missense_Mutation_p.A424V|WSCD1_ENST00000317744.5_Missense_Mutation_p.A424V|WSCD1_ENST00000573634.1_Missense_Mutation_p.A308V			Q658N2	WSCD1_HUMAN	WSC domain containing 1	424						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTGATTCAGCCATCCTGCTA	0.557																																																0			17											82	77	78					17																	6021404		2203	4300	6503	5962128	SO:0001583	missense	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1271C>T	17.37:g.6021404C>T	ENSP00000460825:p.Ala424Val		5962128	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663475	0.88251	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.36340	1.26;1.26	5.47	5.47	0.80525	.	0.108953	0.64402	D	0.000009	T	0.50752	0.1634	L	0.43923	1.385	0.49687	D	0.999814	D	0.67145	0.996	D	0.63597	0.916	T	0.43718	-0.9374	10	0.46703	T	0.11	-29.5557	16.8089	0.85713	0.0:1.0:0.0:0.0	.	424	Q658N2	WSCD1_HUMAN	V	424	ENSP00000323087:A424V;ENSP00000446032:A424V	ENSP00000323087:A424V	A	+	2	0	WSCD1	5962128	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	5.775000	0.68915	2.583000	0.87209	0.655000	0.94253	GCC		0.557	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		T	6021404	C	T	6021404	3	4	363	1	0	0	0	0	1	0	0	0	17406	739	26	2	1297	2	WSCD1	17	6021404	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09		6021404	75173806	82	19982											
AMAC1L3	643664	genome.wustl.edu	37	17	7385639	7385639	+	Silent	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr17:7385639C>T	ENST00000412468.2	+	2	451	c.336C>T	c.(334-336)gtC>gtT	p.V112V	ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	112	EamA 1.					integral component of membrane (GO:0016021)											TGCTCAACGTCCTCAGCATTG	0.607																																																0			17											179	179	179					17																	7385639		2203	4300	6503	7326363	SO:0001819	synonymous_variant	643664				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.336C>T	17.37:g.7385639C>T			7326363		Silent	SNP	ENST00000412468.2	37	CCDS45603.1																																																																																				0.607	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		T	7385639	C	T	7385639	2	4	363	1	0	0	0	0	0	0	0	1	561	842	30	2		2	AMAC1L3	17	7385639	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	1364235	7385639	73809571	83	19983											
TP53	7157	genome.wustl.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000574684.1_5'Flank	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	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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)	TGGTGAGGCTCCCCTTTCTTG	0.567		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"	87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)	17											109	95	100					17																	7577058		2203	4300	6503	7517783	SO:0001587	stop_gained	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.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*		7517783	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577058	C	A	7577058	4	1	363	1	0	0	0	0	0	1	0	0	16381	864	30	3	406	3	TP53	17	7577058	Nonsense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	191419	7577058	73618152	84	19984											
PER1	5187	genome.wustl.edu	37	17	8045156	8045156	+	Silent	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr17:8045156C>G	ENST00000317276.4	-	22	3804	c.3567G>C	c.(3565-3567)cgG>cgC	p.R1189R	PER1_ENST00000581082.1_Silent_p.R1166R|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1189	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTTGGCCCTTCCGGACCCAGG	0.572			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0			17											70	81	77					17																	8045156		2203	4300	6503	7985881	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3567G>C	17.37:g.8045156C>G			7985881	B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	CCDS11131.1																																																																																				0.572	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			G	8045156	C	G	8045156	2	3	363	1	0	0	0	0	0	0	0	1	11729	842	30	3		3	PER1	17	8045156	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	468098	8045156	73150054	85	19985											
MAP3K14	100133991	genome.wustl.edu	37	17	43345050	43345050	+	RNA	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr17:43345050G>T	ENST00000585780.1	+	0	2099				MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA					MAP3K14 antisense RNA 1																		GGAGGGTCTGGTGGTAATTGG	0.572																																																0			17											112	121	118					17																	43345050		1924	4135	6059	40700833			9020			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43345050G>T			40700833		Missense_Mutation	SNP	ENST00000585780.1	37		.	.	.	.	.	.	.	.	.	.	G	8.829	0.939494	0.18281	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.97	1.38	0.22167	Protein kinase-like domain (1);	0.932441	0.09247	N	0.828429	T	0.32255	0.0823	N	0.19112	0.55	0.25411	N	0.988351	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.35276	-0.9795	8	0.21014	T	0.42	.	12.0639	0.53578	0.0:0.443:0.3499:0.2071	.	683;213	Q99558;Q6ZMZ1	M3K14_HUMAN;.	Q	682	.	ENSP00000342059:H682Q	H	-	3	2	MAP3K14	40700833	0.003000	0.15002	0.014000	0.15608	0.008000	0.06430	-0.329000	0.07935	0.366000	0.24427	0.655000	0.94253	CAC		0.572	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		T	43345050	G	T	43345050	1	4	363	0	1	0	0	0	0	0	0	0	9248	1252	44	3		3	MAP3K14	17	43345050	RNA	SNP	G	TCGA-30-1718-01A-01W-0633-09	35299894	43345050	37850160	86	19986											
CLTC	1213	genome.wustl.edu	37	17	57756862	57756862	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr17:57756862G>C	ENST00000269122.3	+	18	3175	c.2901G>C	c.(2899-2901)agG>agC	p.R967S	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.R967S	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	967	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATCCTTACAGGAGACCCCTAA	0.418			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0			17											82	77	79					17																	57756862		2203	4300	6503	55111644	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2901G>C	17.37:g.57756862G>C	ENSP00000269122:p.Arg967Ser		55111644	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721325	0.68959	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.22336	1.96;1.96	5.6	4.4	0.53042	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.93283	3.4	0.80722	D	1	D;D	0.62365	0.991;0.98	D;D	0.81914	0.995;0.964	T	0.54098	-0.8344	10	0.54805	T	0.06	.	5.9141	0.19045	0.2179:0.1493:0.6327:0.0	.	967;967	Q00610;Q00610-2	CLH1_HUMAN;.	S	967	ENSP00000269122:R967S;ENSP00000376763:R967S	ENSP00000269122:R967S	R	+	3	2	CLTC	55111644	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	0.166000	0.16583	1.038000	0.40049	0.563000	0.77884	AGG		0.418	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		C	57756862	G	C	57756862	3	2	363	1	0	0	0	0	1	0	0	0	3566	1165	41	3	2971	3	CLTC	17	57756862	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	14411812	57756862	23438348	87	19987											
HGS	9146	genome.wustl.edu	37	17	79660960	79660961	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G|C	G|C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr17:79660960_79660961GC>TT	ENST00000329138.4	+	11	1036_1037	c.901_902GC>TT	c.(901-903)GCg>TTg	p.A301L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	301	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GGCCTCCTCAGCGCCCCCCGCC	0.649																																																0			17																																								77271365|77271366	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		Exception_encountered	17.37:g.79660960_79660961delinsTT	ENSP00000331201:p.Ala301Leu		77271365|77271366	Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1																																																																																				0.649	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		TT	79660961	GC	TT	79660960	3	4	363	1	0	0	0	0	1	0	0	0	7087	971	34	3	943	3	HGS	17	79660960	Missense_Mutation	DNP	GC	TCGA-30-1718-01A-01W-0633-09	21904098	79660960	1534250	88	19988											
ZNF521	25925	genome.wustl.edu	37	18	22807395	22807395	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr18:22807395G>A	ENST00000361524.3	-	4	635	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.R163C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	163					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTATGTGGCGATCTCGGCTG	0.483			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			18											135	124	128					18																	22807395		2203	4300	6503	21061393	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.487C>T	18.37:g.22807395G>A	ENSP00000354794:p.Arg163Cys		21061393	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478029	0.26511	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.26660	1.72;1.72	5.98	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	M	0.70842	2.15	0.53688	D	0.999971	D	0.89917	1.0	D	0.97110	1.0	T	0.54879	-0.8227	10	0.54805	T	0.06	-38.6733	16.8083	0.85711	0.0:0.0:0.8705:0.1295	.	163	Q96K83	ZN521_HUMAN	C	163;197;163	ENSP00000354794:R163C;ENSP00000382352:R163C	ENSP00000354794:R163C	R	-	1	0	ZNF521	21061393	1.000000	0.71417	0.918000	0.36340	0.992000	0.81027	6.280000	0.72626	1.512000	0.48834	0.655000	0.94253	CGC		0.483	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		A	22807395	G	A	22807395	3	1	363	1	0	0	0	0	1	0	0	0	17965	1058	37	1	3468	1	ZNF521	18	22807395	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09		22807395	55269853	89	19989											
UBXN6	80700	genome.wustl.edu	37	19	4454023	4454023	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr19:4454023C>T	ENST00000301281.6	-	2	275	c.151G>A	c.(151-153)Gag>Aag	p.E51K	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	51						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						ATCTGTGCCTCATTGGTGGGT	0.667																																																0			19											73	93	86					19																	4454023		2203	4299	6502	4405023	SO:0001583	missense	80700			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.151G>A	19.37:g.4454023C>T	ENSP00000301281:p.Glu51Lys		4405023	D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198054	0.94997	.	.	ENSG00000167671	ENST00000301281	T	0.49720	0.77	4.24	4.24	0.50183	.	0.060444	0.64402	D	0.000003	T	0.55162	0.1903	M	0.76574	2.34	0.80722	D	1	P	0.47762	0.9	P	0.45946	0.498	T	0.64761	-0.6331	10	0.62326	D	0.03	-38.1701	15.6441	0.77033	0.0:1.0:0.0:0.0	.	51	Q9BZV1	UBXN6_HUMAN	K	51	ENSP00000301281:E51K	ENSP00000301281:E51K	E	-	1	0	UBXN6	4405023	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	5.130000	0.64745	1.915000	0.55452	0.491000	0.48974	GAG		0.667	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		T	4454023	C	T	4454023	3	4	363	1	0	0	0	0	1	0	0	0	16917	835	29	2	1214	2	UBXN6	19	4454023	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09		4454023	54674960	90	19990											
OR7G3	390883	genome.wustl.edu	37	19	9236799	9236799	+	Silent	SNP	C	C	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr19:9236799C>A	ENST00000305444.2	-	1	827	c.828G>T	c.(826-828)gtG>gtT	p.V276V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CGGTATACATCACTGATGCTA	0.458																																																0			19											99	89	93					19																	9236799		2203	4300	6503	9097799	SO:0001819	synonymous_variant	390883				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.828G>T	19.37:g.9236799C>A			9097799	Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	CCDS32899.1																																																																																				0.458	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			A	9236799	C	A	9236799	2	1	363	1	0	0	0	0	0	0	0	1	11224	813	29	3		3	OR7G3	19	9236799	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	4782776	9236799	49892184	91	19991											
PSG8	440533	genome.wustl.edu	37	19	43258684	43258684	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr19:43258684T>A	ENST00000306511.4	-	5	1141	c.1044A>T	c.(1042-1044)gaA>gaT	p.E348D	PSG8_ENST00000406636.3_Missense_Mutation_p.E226D|PSG8_ENST00000401467.2_Missense_Mutation_p.E255D|PSG8_ENST00000404209.4_Missense_Mutation_p.E348D|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	348	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGTAGAGGACTTCTCCTGAAC	0.463																																																0			19											86	97	93					19																	43258684		2203	4296	6499	47950524	SO:0001583	missense	440533			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1044A>T	19.37:g.43258684T>A	ENSP00000305005:p.Glu348Asp		47950524	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.971001	0.00457	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	1.38	0.0765	0.14403	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49029	0.1533	N	0.17345	0.48	0.09310	N	1	B;B;B;B;B;B	0.09022	0.001;0.002;0.002;0.002;0.001;0.001	B;B;B;B;B;B	0.21151	0.004;0.03;0.012;0.033;0.011;0.019	T	0.30592	-0.9973	9	0.33940	T	0.23	.	4.0816	0.09929	0.0:0.0:0.3727:0.6273	.	226;255;348;255;348;348	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	D	348;130;226;255;160;255;348	ENSP00000385869:E348D;ENSP00000385081:E226D;ENSP00000386090:E255D;ENSP00000305005:E348D	ENSP00000292109:E130D	E	-	3	2	PSG8	47950524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.013000	0.13310	-0.227000	0.09884	0.248000	0.18094	GAA		0.463	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			A	43258684	T	A	43258684	3	1	363	1	0	0	0	0	1	0	0	0	12664	1606	56	5	261	5	PSG8	19	43258684	Missense_Mutation	SNP	T	TCGA-30-1718-01A-01W-0633-09	34021885	43258684	15870299	92	19992											
SIGLEC12	89858	genome.wustl.edu	37	19	52003397	52003397	+	Silent	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr19:52003397G>T	ENST00000291707.3	-	2	640	c.585C>A	c.(583-585)gcC>gcA	p.A195A	SIGLEC12_ENST00000598614.1_Silent_p.A77A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	195	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGGTATATCGGCCCCTTCCT	0.542																																																0			19											147	131	136					19																	52003397		2203	4300	6503	56695209	SO:0001819	synonymous_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.585C>A	19.37:g.52003397G>T			56695209	Q8IYH7	Silent	SNP	ENST00000291707.3	37	CCDS12833.1																																																																																				0.542	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		T	52003397	G	T	52003397	2	4	363	1	0	0	0	0	0	0	0	1	14311	1103	39	3		3	SIGLEC12	19	52003397	Silent	SNP	G	TCGA-30-1718-01A-01W-0633-09	8744713	52003397	7125586	93	19993											
MYADM	91663	genome.wustl.edu	37	19	54377237	54377237	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr19:54377237G>A	ENST00000391769.2	+	3	734	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	MYADM_ENST00000391768.2_Missense_Mutation_p.A152T|MYADM_ENST00000336967.3_Missense_Mutation_p.A152T|MYADM_ENST00000391770.4_Missense_Mutation_p.A152T|MYADM_ENST00000391771.1_Missense_Mutation_p.A152T|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	152	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGTGGCTTACGCCACCGAAGT	0.657																																																0			19											53	54	54					19																	54377237		2203	4299	6502	59069049	SO:0001583	missense	91663			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.454G>A	19.37:g.54377237G>A	ENSP00000375649:p.Ala152Thr		59069049	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753094	0.69648	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.21	3.16	0.36331	Marvel (1);MARVEL-like domain (1);	0.611980	0.16027	N	0.233045	T	0.46946	0.1419	M	0.67700	2.07	0.28300	N	0.923132	D	0.89917	1.0	D	0.78314	0.991	T	0.27123	-1.0083	10	0.45353	T	0.12	-27.4038	5.9073	0.19008	0.2233:0.0:0.7767:0.0	.	152	Q96S97	MYADM_HUMAN	T	152;152;152;152;152;152;115;152;152	ENSP00000398269:A152T;ENSP00000337222:A152T;ENSP00000375650:A152T;ENSP00000399722:A152T;ENSP00000416919:A152T;ENSP00000375651:A152T;ENSP00000375649:A152T;ENSP00000375648:A152T	ENSP00000337222:A152T	A	+	1	0	MYADM	59069049	0.015000	0.18098	0.916000	0.36221	0.551000	0.35334	0.721000	0.25911	2.080000	0.62538	0.313000	0.20887	GCC		0.657	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		A	54377237	G	A	54377237	3	1	363	1	0	0	0	0	1	0	0	0	10006	1087	38	1	456	1	MYADM	19	54377237	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	2373840	54377237	4751746	94	19994											
HSPA12B	116835	genome.wustl.edu	37	20	3726608	3726608	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr20:3726608G>C	ENST00000254963.2	+	7	750	c.605G>C	c.(604-606)cGc>cCc	p.R202P	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R36P	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	202							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GACACTGTGCGCTGGGTGTTG	0.632																																																0			20											80	65	70					20																	3726608		2203	4300	6503	3674608	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.605G>C	20.37:g.3726608G>C	ENSP00000254963:p.Arg202Pro		3674608	D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199644	0.94997	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.04119	3.7;3.7;3.7	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.82323	2.585	0.80722	D	1	D;D	0.55172	0.966;0.97	P;D	0.66979	0.874;0.948	T	0.00132	-1.2012	10	0.56958	D	0.05	-22.9644	16.444	0.83910	0.0:0.0:1.0:0.0	.	201;202	B7ZLP2;Q96MM6	.;HS12B_HUMAN	P	202;36;116	ENSP00000254963:R202P;ENSP00000441506:R36P;ENSP00000382608:R116P	ENSP00000254963:R202P	R	+	2	0	HSPA12B	3674608	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.124000	0.94394	2.755000	0.94549	0.655000	0.94253	CGC		0.632	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		C	3726608	G	C	3726608	3	2	363	1	0	0	0	0	1	0	0	0	7405	1087	38	3	627	3	HSPA12B	20	3726608	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09		3726608	59298912	95	19995											
NCOA6	23054	genome.wustl.edu	37	20	33331098	33331098	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr20:33331098G>T	ENST00000374796.2	-	12	5532	c.2962C>A	c.(2962-2964)Cct>Act	p.P988T	NCOA6_ENST00000359003.2_Missense_Mutation_p.P988T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	988	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATGAGTTGAGGAGGCATCTGC	0.532																																																0			20											72	71	71					20																	33331098		2203	4299	6502	32794759	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2962C>A	20.37:g.33331098G>T	ENSP00000363929:p.Pro988Thr		32794759	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701219	0.48307	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.29917	1.55;1.55	6.04	6.04	0.98038	.	0.083560	0.51477	D	0.000084	T	0.25232	0.0613	N	0.19112	0.55	0.39604	D	0.969784	D	0.53151	0.958	P	0.45071	0.468	T	0.02546	-1.1143	10	0.52906	T	0.07	-7.4425	13.7479	0.62887	0.0698:0.0:0.9302:0.0	.	988	Q14686	NCOA6_HUMAN	T	988	ENSP00000363929:P988T;ENSP00000351894:P988T	ENSP00000351894:P988T	P	-	1	0	NCOA6	32794759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.012000	0.57131	2.873000	0.98535	0.563000	0.77884	CCT		0.532	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		T	33331098	G	T	33331098	3	4	363	1	0	0	0	0	1	0	0	0	10233	1174	41	3	3249	3	NCOA6	20	33331098	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	29604490	33331098	29694422	96	19996											
PHF20	51230	genome.wustl.edu	37	20	34535525	34535525	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr20:34535525G>C	ENST00000374012.3	+	18	3144	c.3015G>C	c.(3013-3015)caG>caC	p.Q1005H	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	1005					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGGTGCAGCAGATCGCCCTCT	0.557																																																0			20											47	43	44					20																	34535525		2203	4300	6503	33998939	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.3015G>C	20.37:g.34535525G>C	ENSP00000363124:p.Gln1005His		33998939	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177050	0.57692	.	.	ENSG00000025293	ENST00000374012	T	0.45276	0.9	5.27	4.33	0.51752	.	0.104527	0.64402	D	0.000002	T	0.58481	0.2125	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.61267	-0.7097	10	0.87932	D	0	.	8.5772	0.33605	0.227:0.0:0.773:0.0	.	1005	Q9BVI0	PHF20_HUMAN	H	1005	ENSP00000363124:Q1005H	ENSP00000363124:Q1005H	Q	+	3	2	PHF20	33998939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.397000	0.59690	1.475000	0.48197	0.650000	0.86243	CAG		0.557	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		C	34535525	G	C	34535525	3	2	363	1	0	0	0	0	1	0	0	0	11831	933	33	3	3081	3	PHF20	20	34535525	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	1204427	34535525	28489995	97	19997											
DNAJC5	80331	genome.wustl.edu	37	20	62559773	62559773	+	Silent	SNP	C	C	T	rs189308547		TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr20:62559773C>T	ENST00000360864.4	+	2	228	c.75C>T	c.(73-75)aaC>aaT	p.N25N	DNAJC5_ENST00000369911.2_Silent_p.N25N	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	25	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGACAAGAACGCAACCTCAG	0.502													C|||	1	0.000199681	0	0	5008	,	,		19339	0.001		0	False		,,,				2504	0															0			20						C		1,4405	2.1+/-5.4	0,1,2202	126	119	121		75	-1.7	1	20		121	0,8600		0,0,4300	no	coding-synonymous	DNAJC5	NM_025219.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		25/199	62559773	1,13005	2203	4300	6503	62030217	SO:0001819	synonymous_variant	80331				CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"Heat shock proteins / DNAJ (HSP40)"	16235	protein-coding gene	gene with protein product		611203	"ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.75C>T	20.37:g.62559773C>T			62030217	A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Silent	SNP	ENST00000360864.4	37	CCDS13546.1																																																																																				0.502	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		T	62559773	C	T	62559773	2	4	363	1	0	0	0	0	0	0	0	1	4650	535	19	1		1	DNAJC5	20	62559773	Silent	SNP	C	TCGA-30-1718-01A-01W-0633-09	28024248	62559773	465747	98	19998											
UPB1	51733	genome.wustl.edu	37	22	24906749	24906749	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chr22:24906749C>T	ENST00000326010.5	+	4	741	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	UPB1_ENST00000413389.2_Missense_Mutation_p.L65F	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	133	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GAGAGAGAAGCTTCCTTGGAC	0.517																																																0			22											93	89	90					22																	24906749		2203	4300	6503	23236749	SO:0001583	missense	51733			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.397C>T	22.37:g.24906749C>T	ENSP00000324343:p.Leu133Phe		23236749	A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300854	0.23650	.	.	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.88664	-2.41;-2.41	5.72	5.72	0.89469	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.180522	0.49305	D	0.000146	T	0.79839	0.4515	N	0.12569	0.235	0.49582	D	0.999801	B;B	0.14012	0.009;0.002	B;B	0.15052	0.012;0.012	T	0.74372	-0.3687	10	0.09843	T	0.71	-8.1471	18.867	0.92296	0.0:1.0:0.0:0.0	.	133;65	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	F	65;133	ENSP00000406057:L65F;ENSP00000324343:L133F	ENSP00000324343:L133F	L	+	1	0	UPB1	23236749	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	5.056000	0.64287	2.708000	0.92522	0.650000	0.86243	CTT		0.517	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			T	24906749	C	T	24906749	3	4	363	1	0	0	0	0	1	0	0	0	17002	797	28	2	411	2	UPB1	22	24906749	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09		24906749	26397817	99	19999											
VCX	26609	genome.wustl.edu	37	X	7811259	7811259	+	Silent	SNP	G	G	C	rs140123807		TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:7811259G>C	ENST00000381059.3	+	2	234	c.15G>C	c.(13-15)ccG>ccC	p.P5P	VCX_ENST00000341408.4_Silent_p.P5P	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	5					chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GTCCAAAGCCGAGAGCCTCGG	0.627													-|||	292	0.077351	0.0303	0.0331	3775	,	,		12914	0.0923		0.1163	False		,,,				2504	0.0194															0			X											29	29	29					X																	7811259		2157	4157	6314	7771259	SO:0001819	synonymous_variant	26609			AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"variable charge, X chromosome"			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.15G>C	X.37:g.7811259G>C			7771259	A0JNS5|Q4V774|Q9P0H3	Silent	SNP	ENST00000381059.3	37	CCDS14128.1																																																																																				0.627	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		C	7811259	G	C	7811259	2	2	363	1	0	0	0	0	0	0	0	1	17142	1045	37	3		3	VCX	23	7811259	Silent	SNP	G	TCGA-30-1718-01A-01W-0633-09		7811259	147459301	100	20000											
WDR13	64743	genome.wustl.edu	37	X	48460328	48460328	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:48460328T>C	ENST00000218056.5	+	6	1493	c.988T>C	c.(988-990)Tct>Cct	p.S330P	WDR13_ENST00000376729.5_Missense_Mutation_p.S330P	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	330						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CAGTGTCTTCTCTTTCCTCTT	0.627																																																0			X											60	52	54					X																	48460328		2203	4300	6503	48345272	SO:0001583	missense	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.988T>C	X.37:g.48460328T>C	ENSP00000218056:p.Ser330Pro		48345272	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673771	0.67928	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.65916	-0.18;-0.18	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	T	0.77378	-0.2610	10	0.49607	T	0.09	-1.2105	12.3389	0.55083	0.0:0.0:0.0:1.0	.	330	Q9H1Z4	WDR13_HUMAN	P	330	ENSP00000365919:S330P;ENSP00000218056:S330P	ENSP00000218056:S330P	S	+	1	0	WDR13	48345272	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	6.951000	0.75983	1.818000	0.53035	0.352000	0.21897	TCT		0.627	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			C	48460328	T	C	48460328	3	2	363	1	0	0	0	0	1	0	0	0	17275	1551	54	4	1010	4	WDR13	23	48460328	Missense_Mutation	SNP	T	TCGA-30-1718-01A-01W-0633-09	40649069	48460328	106810232	101	20001											
CCNB3	85417	genome.wustl.edu	37	X	50090709	50090709	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:50090709A>G	ENST00000376042.1	+	11	4193	c.3895A>G	c.(3895-3897)Aag>Gag	p.K1299E	CCNB3_ENST00000348603.2_Missense_Mutation_p.K195E|CCNB3_ENST00000276014.7_Missense_Mutation_p.K1299E|CCNB3_ENST00000376038.1_Missense_Mutation_p.K195E			Q8WWL7	CCNB3_HUMAN	cyclin B3	1299					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGTCCAGGAGAAGGCTTCCAA	0.507																																																0			X											108	77	88					X																	50090709		2203	4300	6503	50107449	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3895A>G	X.37:g.50090709A>G	ENSP00000365210:p.Lys1299Glu		50107449	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.468254	0.26335	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	4.61	1.92	0.25849	Cyclin, C-terminal (1);Cyclin-like (3);	0.587067	0.17606	N	0.168259	T	0.28234	0.0697	L	0.52905	1.665	0.20638	N	0.999872	B;P;P	0.45902	0.137;0.868;0.636	B;B;P	0.46452	0.18;0.391;0.517	T	0.07214	-1.0784	9	.	.	.	.	9.6877	0.40109	0.6719:0.3281:0.0:0.0	.	1299;195;1299	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	E	1299;195;195;1299	ENSP00000365210:K1299E;ENSP00000365206:K195E;ENSP00000338682:K195E;ENSP00000276014:K1299E	.	K	+	1	0	CCNB3	50107449	1.000000	0.71417	0.465000	0.27155	0.634000	0.38068	1.561000	0.36342	0.546000	0.28920	-0.537000	0.04273	AAG		0.507	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			G	50090709	A	G	50090709	3	3	363	1	0	0	0	0	1	0	0	0	2914	247	9	4	3929	4	CCNB3	23	50090709	Missense_Mutation	SNP	A	TCGA-30-1718-01A-01W-0633-09	1630381	50090709	105179851	102	20002											
VSIG4	11326	genome.wustl.edu	37	X	65253585	65253585	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:65253585C>G	ENST00000374737.4	-	2	251	c.143G>C	c.(142-144)gGc>gCc	p.G48A	VSIG4_ENST00000455586.2_Missense_Mutation_p.G48A|VSIG4_ENST00000412866.2_Missense_Mutation_p.G48A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	48	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGGGTGTAGCCTTGCAGGGG	0.547																																																0			X											120	81	94					X																	65253585		2203	4300	6503	65170310	SO:0001583	missense	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.143G>C	X.37:g.65253585C>G	ENSP00000363869:p.Gly48Ala		65170310	Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301402	0.23736	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866;ENST00000423830	T;T;T;T	0.64260	-0.09;-0.09;-0.09;4.29	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.76371	0.3978	M	0.74881	2.28	0.36489	D	0.868304	D;D;D;D;D	0.89917	1.0;0.999;0.988;0.999;0.999	D;P;P;D;D	0.91635	0.999;0.862;0.835;0.994;0.915	T	0.79748	-0.1673	10	0.33141	T	0.24	-14.5173	12.3711	0.55256	0.0:1.0:0.0:0.0	.	48;48;38;48;48	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.;.;.;.;VSIG4_HUMAN	A	48	ENSP00000363869:G48A;ENSP00000411581:G48A;ENSP00000394143:G48A;ENSP00000414594:G48A	ENSP00000363869:G48A	G	-	2	0	VSIG4	65170310	0.962000	0.33011	0.677000	0.29947	0.232000	0.25224	0.741000	0.26202	1.966000	0.57179	0.523000	0.50628	GGC		0.547	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		G	65253585	C	G	65253585	3	3	363	1	0	0	0	0	1	0	0	0	17225	739	26	3	1088	3	VSIG4	23	65253585	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	15162876	65253585	90016975	103	20003											
CYSLTR1	10800	genome.wustl.edu	37	X	77529003	77529003	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:77529003C>A	ENST00000373304.3	-	3	533	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	81					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	ACATAATAGACCACACGGAGA	0.418																																																0			X											72	56	62					X																	77529003		2203	4299	6502	77415659	SO:0001583	missense	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.241G>T	X.37:g.77529003C>A	ENSP00000362401:p.Val81Phe		77415659	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	c	14.62	2.588310	0.46110	.	.	ENSG00000173198	ENST00000373304	T	0.37584	1.19	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.369251	0.27936	N	0.017256	T	0.33556	0.0867	L	0.35288	1.05	0.30219	N	0.797007	P	0.47841	0.901	P	0.49332	0.607	T	0.10474	-1.0628	10	0.10111	T	0.7	.	13.8027	0.63212	0.0:1.0:0.0:0.0	.	81	Q9Y271	CLTR1_HUMAN	F	81	ENSP00000362401:V81F	ENSP00000362401:V81F	V	-	1	0	CYSLTR1	77415659	0.987000	0.35691	0.997000	0.53966	0.941000	0.58515	2.459000	0.45023	1.823000	0.53134	0.452000	0.29995	GTC		0.418	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			A	77529003	C	A	77529003	3	1	363	1	0	0	0	0	1	0	0	0	4201	507	18	3	776	3	CYSLTR1	23	77529003	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	12275418	77529003	77741557	104	20004											
GPR174	84636	genome.wustl.edu	37	X	78427491	78427491	+	Silent	SNP	A	A	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:78427491A>C	ENST00000276077.1	+	1	1023	c.987A>C	c.(985-987)acA>acC	p.T329T		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCACCATGACACCTGAATTAT	0.413										HNSCC(63;0.18)																																						0			X											65	57	59					X																	78427491		2203	4300	6503	78314147	SO:0001819	synonymous_variant	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.987A>C	X.37:g.78427491A>C			78314147	Q2M3F7	Silent	SNP	ENST00000276077.1	37	CCDS14443.1																																																																																				0.413	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		C	78427491	A	C	78427491	2	2	363	1	0	0	0	0	0	0	0	1	6672	146	6	5		5	GPR174	23	78427491	Silent	SNP	A	TCGA-30-1718-01A-01W-0633-09	898488	78427491	76843069	105	20005											
COL4A5	1287	genome.wustl.edu	37	X	107923973	107923973	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:107923973G>C	ENST00000361603.2	+	43	4233	c.3989G>C	c.(3988-3990)gGa>gCa	p.G1330A	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1336A	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1330	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTGTTCCAGGATTCCCAGGT	0.408									Alport syndrome with Diffuse Leiomyomatosis																																							0			X											80	76	78					X																	107923973		2203	4300	6503	107810629	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3989G>C	X.37:g.107923973G>C	ENSP00000354505:p.Gly1330Ala		107810629	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565487	0.86439	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99607	-6.27;-6.27	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	H	0.98577	4.27	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.996	D	0.96530	0.9392	10	0.87932	D	0	.	18.1049	0.89517	0.0:0.0:1.0:0.0	.	1333;1330	E7EVY4;P29400	.;CO4A5_HUMAN	A	1336;1330;1336	ENSP00000331902:G1336A;ENSP00000354505:G1330A	ENSP00000331902:G1336A	G	+	2	0	COL4A5	107810629	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.067000	0.93955	2.212000	0.71576	0.523000	0.50628	GGA		0.408	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			C	107923973	G	C	107923973	3	2	363	1	0	0	0	0	1	0	0	0	3694	1174	41	3	4170	3	COL4A5	23	107923973	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	29496482	107923973	47346587	106	20006											
IRS4	8471	genome.wustl.edu	37	X	107977049	107977049	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:107977049G>T	ENST00000372129.2	-	1	2602	c.2526C>A	c.(2524-2526)gaC>gaA	p.D842E	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	842					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGACTTCTTTGTCTAGGCCCC	0.498																																																0			X											173	178	176					X																	107977049		2203	4300	6503	107863705	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2526C>A	X.37:g.107977049G>T	ENSP00000361202:p.Asp842Glu		107863705		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	6.101	0.386902	0.11581	.	.	ENSG00000133124	ENST00000372129	T	0.17213	2.29	5.18	2.16	0.27623	.	1.194070	0.05806	N	0.613116	T	0.08313	0.0207	N	0.11255	0.115	0.19575	N	0.999964	B	0.02656	0.0	B	0.04013	0.001	T	0.27606	-1.0069	10	0.02654	T	1	-2.8764	7.8366	0.29374	0.0:0.115:0.3223:0.5627	.	842	O14654	IRS4_HUMAN	E	842	ENSP00000361202:D842E	ENSP00000361202:D842E	D	-	3	2	IRS4	107863705	0.990000	0.36364	0.172000	0.22920	0.839000	0.47603	2.197000	0.42696	0.543000	0.28864	-0.222000	0.12452	GAC		0.498	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		T	107977049	G	T	107977049	3	4	363	1	0	0	0	0	1	0	0	0	7842	1368	48	3	1251	3	IRS4	23	107977049	Missense_Mutation	SNP	G	TCGA-30-1718-01A-01W-0633-09	53076	107977049	47293511	107	20007											
SLC25A43	203427	genome.wustl.edu	37	X	118587010	118587010	+	Silent	SNP	T	T	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:118587010T>C	ENST00000217909.7	+	5	1352	c.1008T>C	c.(1006-1008)ccT>ccC	p.P336P	SLC25A43_ENST00000336249.7_3'UTR|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	336					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						AACCGAAGCCTAAAAAACCAA	0.423																																																0			X											73	75	74					X																	118587010		2203	4299	6502	118471038	SO:0001819	synonymous_variant	203427			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"Solute carriers"	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.1008T>C	X.37:g.118587010T>C			118471038	O75854|Q8N9L5	Silent	SNP	ENST00000217909.7	37	CCDS14577.1																																																																																				0.423	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		C	118587010	T	C	118587010	2	2	363	1	0	0	0	0	0	0	0	1	14511	1509	53	4		4	SLC25A43	23	118587010	Silent	SNP	T	TCGA-30-1718-01A-01W-0633-09	10609961	118587010	36683550	108	20008											
XIAP	331	genome.wustl.edu	37	X	123034352	123034352	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:123034352T>C	ENST00000371199.3	+	6	1408	c.1109T>C	c.(1108-1110)aTc>aCc	p.I370T	XIAP_ENST00000355640.3_Missense_Mutation_p.I370T|XIAP_ENST00000434753.3_Missense_Mutation_p.I370T|XIAP_ENST00000468691.1_3'UTR	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	370					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GATGATACCATCTTCCAAAAT	0.299									X-linked Lymphoproliferative syndrome																																							0			X											39	37	37					X																	123034352		2202	4297	6499	122862033	SO:0001583	missense	331	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1109T>C	X.37:g.123034352T>C	ENSP00000360242:p.Ile370Thr		122862033	D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	t	11.20	1.569782	0.28003	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.28255	1.62;1.62;1.62	4.7	3.53	0.40419	.	0.353829	0.24488	N	0.038092	T	0.29223	0.0727	M	0.65975	2.015	0.09310	N	0.999999	B	0.10296	0.003	B	0.10450	0.005	T	0.21075	-1.0256	10	0.32370	T	0.25	-29.9185	7.8753	0.29590	0.0:0.0972:0.0:0.9028	.	370	P98170	XIAP_HUMAN	T	370	ENSP00000395230:I370T;ENSP00000360242:I370T;ENSP00000347858:I370T	ENSP00000347858:I370T	I	+	2	0	XIAP	122862033	0.973000	0.33851	0.809000	0.32408	0.821000	0.46438	3.024000	0.49674	0.657000	0.30906	0.350000	0.21858	ATC		0.299	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		C	123034352	T	C	123034352	3	2	363	1	0	0	0	0	1	0	0	0	17428	1435	50	4	1127	4	XIAP	23	123034352	Missense_Mutation	SNP	T	TCGA-30-1718-01A-01W-0633-09	4447342	123034352	32236208	109	20009											
GABRA3	2556	genome.wustl.edu	37	X	151336984	151336984	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1718-01A-01W-0633-09	TCGA-30-1718-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12be6c2a-d39a-405a-ba8e-9c22bc759202	637618e3-c2a3-416b-82c1-a86b025e8bff	g.chrX:151336984C>T	ENST00000370314.4	-	10	1433	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.V399M	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	399					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|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)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|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)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTGGTCCCCACGATGTTGAAG	0.522																																					NSCLC(142;2578 2613 10251 16743)											0			X											271	219	237					X																	151336984		2203	4300	6503	151087640	SO:0001583	missense	2556				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1195G>A	X.37:g.151336984C>T	ENSP00000359337:p.Val399Met		151087640	Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202606	0.58234	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.81821	-1.54;-1.54;-1.54	4.71	4.71	0.59529	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.406771	0.27193	N	0.020492	T	0.74673	0.3747	N	0.08118	0	0.46149	D	0.998891	D	0.64830	0.994	P	0.57009	0.811	T	0.75602	-0.3261	10	0.30078	T	0.28	.	14.4152	0.67145	0.0:1.0:0.0:0.0	.	399	P34903	GBRA3_HUMAN	M	399	ENSP00000359337:V399M;ENSP00000359334:V399M;ENSP00000443527:V399M	ENSP00000359334:V399M	V	-	1	0	GABRA3	151087640	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.726000	0.84824	2.069000	0.61940	0.597000	0.82753	GTG		0.522	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		T	151336984	C	T	151336984	3	4	363	1	0	0	0	0	1	0	0	0	6162	536	19	1	287	1	GABRA3	23	151336984	Missense_Mutation	SNP	C	TCGA-30-1718-01A-01W-0633-09	28302632	151336984	3933576	110	20010											
NES	10763	broad.mit.edu	37	1	156640107	156640107	+	Silent	SNP	G	G	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr1:156640107G>A	ENST00000368223.3	-	4	4005	c.3873C>T	c.(3871-3873)ctC>ctT	p.L1291L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1291	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.L1291L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGTCTCCCCGAGCTCATCCT	0.652																																																1	Substitution - coding silent(1)	ovary(1)	1											74	87	83					1																	156640107		2203	4300	6503	154906731	SO:0001819	synonymous_variant	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3873C>T	1.37:g.156640107G>A			154906731	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1																																																																																				0.652	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		A	156640107	G	A	156640107	2	1	364	1	0	0	0	0	0	0	0	1	10337	1045	37	1		1	NES	1	156640107	Silent	SNP	G	TCGA-30-1853-01A-02W-0699-08		156640107	92610514	1	20011											
RC3H1	149041	broad.mit.edu	37	1	173962095	173962095	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr1:173962095T>A	ENST00000367696.2	-	2	380	c.29A>T	c.(28-30)gAt>gTt	p.D10V	RC3H1_ENST00000258349.4_Missense_Mutation_p.D10V|RC3H1_ENST00000367694.2_Missense_Mutation_p.D10V			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	10					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D10V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGAGGAAATCCGTCCATTG	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											119	114	116					1																	173962095		2203	4300	6503	172228718	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.29A>T	1.37:g.173962095T>A	ENSP00000356669:p.Asp10Val		172228718	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635733	0.87760	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.94758	-3.51;-3.51;-3.51	5.78	5.78	0.91487	Zinc finger, RING/FYVE/PHD-type (1);	0.043794	0.85682	D	0.000000	D	0.96386	0.8821	L	0.60957	1.885	0.80722	D	1	D;D;D;D	0.71674	0.994;0.994;0.993;0.998	P;P;P;D	0.70935	0.892;0.892;0.827;0.971	D	0.96894	0.9655	10	0.87932	D	0	-18.6941	16.1138	0.81283	0.0:0.0:0.0:1.0	.	10;10;10;10	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	V	10	ENSP00000356669:D10V;ENSP00000258349:D10V;ENSP00000356667:D10V	ENSP00000258349:D10V	D	-	2	0	RC3H1	172228718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.599000	0.82757	2.220000	0.72140	0.533000	0.62120	GAT		0.443	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		A	173962095	T	A	173962095	3	1	364	1	0	0	0	0	1	0	0	0	13169	1435	50	5	3448	5	RC3H1	1	173962095	Missense_Mutation	SNP	T	TCGA-30-1853-01A-02W-0699-08	17321988	173962095	75288526	2	20012											
ACBD6	84320	broad.mit.edu	37	1	180257597	180257597	+	Silent	SNP	G	G	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr1:180257597G>A	ENST00000367595.3	-	8	1437	c.750C>T	c.(748-750)gaC>gaT	p.D250D	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	250						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.D250D(1)	ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						GGAGAGTGGGGTCAGCACCAG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	1											48	45	46					1																	180257597		2203	4300	6503	178524220	SO:0001819	synonymous_variant	84320			BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"Ankyrin repeat domain containing"	23339	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 6"			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.750C>T	1.37:g.180257597G>A			178524220		Silent	SNP	ENST00000367595.3	37	CCDS1339.1																																																																																				0.502	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360		A	180257597	G	A	180257597	2	1	364	1	0	0	0	0	0	0	0	1	126	1252	44	2		2	ACBD6	1	180257597	Silent	SNP	G	TCGA-30-1853-01A-02W-0699-08	6295502	180257597	68993024	3	20013											
KIDINS220	57498	broad.mit.edu	37	2	8940569	8940569	+	Silent	SNP	C	C	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr2:8940569C>T	ENST00000256707.3	-	9	1042	c.861G>A	c.(859-861)gcG>gcA	p.A287A	KIDINS220_ENST00000427284.1_Silent_p.A287A|KIDINS220_ENST00000319688.5_Silent_p.A288A|KIDINS220_ENST00000473731.1_Silent_p.A287A|KIDINS220_ENST00000418530.1_Silent_p.A245A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	287					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.A287A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTGGAGAAGCGCTCGAACAA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	2											188	195	193					2																	8940569		1917	4133	6050	8858020	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.861G>A	2.37:g.8940569C>T			8858020	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.378	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		T	8940569	C	T	8940569	2	4	364	1	0	0	0	0	0	0	0	1	8271	755	27	1		1	KIDINS220	2	8940569	Silent	SNP	C	TCGA-30-1853-01A-02W-0699-08		8940569	234258804	4	20014											
LRRTM4	80059	broad.mit.edu	37	2	77745898	77745898	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr2:77745898A>G	ENST00000409093.1	-	3	1433	c.1097T>C	c.(1096-1098)gTc>gCc	p.V366A	LRRTM4_ENST00000409088.3_Missense_Mutation_p.V366A|LRRTM4_ENST00000409884.1_Missense_Mutation_p.V366A|LRRTM4_ENST00000409282.1_Missense_Mutation_p.V367A|LRRTM4_ENST00000409911.1_Missense_Mutation_p.V367A			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	366					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.V366A(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTCTGTGTTGACCACCTGGAC	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											122	117	118					2																	77745898		1902	4119	6021	77599406	SO:0001583	missense	80059			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1097T>C	2.37:g.77745898A>G	ENSP00000386357:p.Val366Ala		77599406	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.521119	0.00967	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.51817	0.69;0.72;0.72;0.79;0.8	5.68	3.15	0.36227	.	0.586840	0.18395	N	0.142557	T	0.27900	0.0687	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.14023	0.004;0.01;0.004	T	0.20472	-1.0274	10	0.09843	T	0.71	.	7.7264	0.28763	0.7949:0.0:0.2051:0.0	.	367;366;366	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	A	367;366;366;366;367	ENSP00000387228:V367A;ENSP00000387297:V366A;ENSP00000386357:V366A;ENSP00000386236:V366A;ENSP00000386286:V367A	ENSP00000386236:V366A	V	-	2	0	LRRTM4	77599406	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	3.073000	0.50057	0.844000	0.35094	0.533000	0.62120	GTC		0.468	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		G	77745898	A	G	77745898	3	3	364	1	0	0	0	0	1	0	0	0	9042	275	10	4	689	4	LRRTM4	2	77745898	Missense_Mutation	SNP	A	TCGA-30-1853-01A-02W-0699-08	68805329	77745898	165453475	5	20015											
ORC4L	5000	broad.mit.edu	37	2	148693163	148693163	+	Silent	SNP	A	A	G			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr2:148693163A>G	ENST00000392857.5	-	14	1334	c.1227T>C	c.(1225-1227)acT>acC	p.T409T	ORC4_ENST00000536575.1_Silent_p.T325T|ORC4_ENST00000392858.1_Silent_p.T409T|ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000540442.1_Silent_p.T335T|ORC4_ENST00000542387.1_Silent_p.T192T|ORC4_ENST00000535373.1_Silent_p.T409T|ORC4_ENST00000264169.2_Silent_p.T409T	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	409					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.T409T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TCATAATTTGAGTATTATCCA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	2											112	111	111					2																	148693163		2203	4300	6503	148409633	SO:0001819	synonymous_variant	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.1227T>C	2.37:g.148693163A>G			148409633	B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Silent	SNP	ENST00000392857.5	37	CCDS2187.1																																																																																				0.393	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		G	148693163	A	G	148693163	2	3	364	1	0	0	0	0	0	0	0	1	11264	291	11	4		4	ORC4L	2	148693163	Silent	SNP	A	TCGA-30-1853-01A-02W-0699-08	70947265	148693163	94506210	6	20016											
ITGB6	3694	broad.mit.edu	37	2	160994038	160994038	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr2:160994038T>C	ENST00000283249.2	-	10	1804	c.1567A>G	c.(1567-1569)Atc>Gtc	p.I523V	ITGB6_ENST00000409872.1_Missense_Mutation_p.I523V|ITGB6_ENST00000409967.2_Missense_Mutation_p.I523V|ITGB6_ENST00000428609.2_Missense_Mutation_p.I481V	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	523	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.I523V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AAGTGGCAGATACACTGCCCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											93	85	88					2																	160994038		2203	4300	6503	160702284	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1567A>G	2.37:g.160994038T>C	ENSP00000283249:p.Ile523Val		160702284	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	T	0.686	-0.796317	0.02862	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.39	-1.25	0.09405	.	0.624964	0.16462	N	0.213389	T	0.73505	0.3595	N	0.02685	-0.53	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.64210	-0.6461	10	0.02654	T	1	.	8.3703	0.32410	0.0:0.4822:0.1231:0.3947	.	481;523	E9PEE8;P18564	.;ITB6_HUMAN	V	523;481;523;523	ENSP00000283249:I523V;ENSP00000408024:I481V;ENSP00000386828:I523V;ENSP00000386367:I523V	ENSP00000283249:I523V	I	-	1	0	ITGB6	160702284	0.005000	0.15991	0.928000	0.36995	0.996000	0.88848	-0.152000	0.10159	-0.134000	0.11516	0.533000	0.62120	ATC		0.552	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		C	160994038	T	C	160994038	3	2	364	1	0	0	0	0	1	0	0	0	7899	1406	49	4	823	4	ITGB6	2	160994038	Missense_Mutation	SNP	T	TCGA-30-1853-01A-02W-0699-08	12300875	160994038	82205335	7	20017											
TBC1D23	55773	broad.mit.edu	37	3	100021074	100021074	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr3:100021074T>G	ENST00000394144.4	+	11	1263	c.1256T>G	c.(1255-1257)tTt>tGt	p.F419C	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.F419C|TBC1D23_ENST00000475134.1_Missense_Mutation_p.F282C	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	419	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.F419C(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CTGGCACACTTTTTACAGGTA	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											80	72	75					3																	100021074		2203	4300	6503	101503764	SO:0001583	missense	55773			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1256T>G	3.37:g.100021074T>G	ENSP00000377700:p.Phe419Cys		101503764	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347375	0.82022	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.44083	0.93;0.93;0.93	5.96	5.96	0.96718	Rhodanese-like (4);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66200	-0.5983	9	.	.	.	.	16.4293	0.83835	0.0:0.0:0.0:1.0	.	419;419	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	C	419;419;282	ENSP00000340693:F419C;ENSP00000377700:F419C;ENSP00000418059:F282C	.	F	+	2	0	TBC1D23	101503764	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.375000	0.79646	2.271000	0.75665	0.528000	0.53228	TTT		0.383	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		G	100021074	T	G	100021074	3	3	364	1	0	0	0	0	1	0	0	0	15613	1841	64	5	1298	5	TBC1D23	3	100021074	Missense_Mutation	SNP	T	TCGA-30-1853-01A-02W-0699-08		100021074	98001356	8	20018											
COPG	22820	broad.mit.edu	37	3	128979574	128979574	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr3:128979574C>T	ENST00000314797.6	+	12	1156	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	351					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.T351M(1)									CTCCTTAAGACGGGCAGCGAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	3											97	86	90					3																	128979574		2203	4300	6503	130462264	SO:0001583	missense	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1052C>T	3.37:g.128979574C>T	ENSP00000325002:p.Thr351Met		130462264	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585571	0.66105	.	.	ENSG00000181789	ENST00000314797	T	0.25085	1.82	5.88	5.88	0.94601	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.065842	0.64402	D	0.000007	T	0.66257	0.2771	H	0.96015	3.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.76788	-0.2830	10	0.87932	D	0	-6.5643	17.7893	0.88547	0.0:1.0:0.0:0.0	.	351	Q9Y678	COPG_HUMAN	M	351	ENSP00000325002:T351M	ENSP00000325002:T351M	T	+	2	0	COPG	130462264	1.000000	0.71417	0.918000	0.36340	0.083000	0.17756	7.618000	0.83043	2.805000	0.96524	0.460000	0.39030	ACG		0.547	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		T	128979574	C	T	128979574	3	4	364	1	0	0	0	0	1	0	0	0	3731	536	19	1	1098	1	COPG	3	128979574	Missense_Mutation	SNP	C	TCGA-30-1853-01A-02W-0699-08	28958500	128979574	69042856	9	20019											
COPG	22820	broad.mit.edu	37	3	128986812	128986812	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr3:128986812A>G	ENST00000314797.6	+	16	1681	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	526					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.D526G(1)									GAAGTAAGGGACCGAGCCACC	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											162	132	142					3																	128986812		2203	4300	6503	130469502	SO:0001583	missense	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1577A>G	3.37:g.128986812A>G	ENSP00000325002:p.Asp526Gly		130469502	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.074489	0.76415	.	.	ENSG00000181789	ENST00000314797	T	0.33438	1.41	6.17	6.17	0.99709	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.063072	0.64402	D	0.000005	T	0.65984	0.2744	M	0.93638	3.44	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.75342	-0.3351	10	0.87932	D	0	-6.4079	14.7743	0.69713	1.0:0.0:0.0:0.0	.	526	Q9Y678	COPG_HUMAN	G	526	ENSP00000325002:D526G	ENSP00000325002:D526G	D	+	2	0	COPG	130469502	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	9.136000	0.94489	2.371000	0.80710	0.533000	0.62120	GAC		0.537	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		G	128986812	A	G	128986812	3	3	364	1	0	0	0	0	1	0	0	0	3731	275	10	4	1639	4	COPG	3	128986812	Missense_Mutation	SNP	A	TCGA-30-1853-01A-02W-0699-08	7238	128986812	69035618	10	20020											
C4orf29	80167	broad.mit.edu	37	4	128941248	128941248	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr4:128941248C>T	ENST00000444616.1	+	9	870	c.623C>T	c.(622-624)gCg>gTg	p.A208V	C4orf29_ENST00000388795.5_Missense_Mutation_p.A126V|C4orf29_ENST00000398965.1_Missense_Mutation_p.A208V			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	208						extracellular region (GO:0005576)		p.A208V(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GCTTCCTTAGCGGTATCCAAC	0.358																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	4											53	52	53					4																	128941248		1847	4080	5927	129160698	SO:0001583	missense	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.623C>T	4.37:g.128941248C>T	ENSP00000397229:p.Ala208Val		129160698	A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.360807	0.95877	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72701	-0.4214	9	0.35671	T	0.21	-15.5728	18.9776	0.92743	0.0:1.0:0.0:0.0	.	126;208	B7WP89;Q0P651	.;CD029_HUMAN	V	208;5;208;208;126;126;81	.	ENSP00000373447:A126V	A	+	2	0	C4orf29	129160698	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	7.425000	0.80255	2.486000	0.83907	0.558000	0.71614	GCG		0.358	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		T	128941248	C	T	128941248	3	4	364	1	0	0	0	0	1	0	0	0	2259	768	27	1	653	1	C4orf29	4	128941248	Missense_Mutation	SNP	C	TCGA-30-1853-01A-02W-0699-08		128941248	62213028	11	20021											
RICTOR	253260	broad.mit.edu	37	5	38947495	38947495	+	Silent	SNP	C	C	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr5:38947495C>T	ENST00000357387.3	-	32	4215	c.4185G>A	c.(4183-4185)ttG>ttA	p.L1395L	RICTOR_ENST00000296782.5_Silent_p.L1419L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.L1395L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAATAGGACTCAATAAATCTT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	5											91	83	86					5																	38947495		2203	4300	6503	38983252	SO:0001819	synonymous_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4185G>A	5.37:g.38947495C>T			38983252		Silent	SNP	ENST00000357387.3	37	CCDS34148.1																																																																																				0.373	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		T	38947495	C	T	38947495	2	4	364	1	0	0	0	0	0	0	0	1	13361	825	29	2		2	RICTOR	5	38947495	Silent	SNP	C	TCGA-30-1853-01A-02W-0699-08		38947495	141967765	12	20022											
SQSTM1	8878	broad.mit.edu	37	5	179251006	179251006	+	Silent	SNP	G	G	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr5:179251006G>A	ENST00000389805.4	+	3	628	c.450G>A	c.(448-450)ttG>ttA	p.L150L	SQSTM1_ENST00000510187.1_Silent_p.L150L|SQSTM1_ENST00000402874.3_Silent_p.L66L|SQSTM1_ENST00000376929.3_Silent_p.L66L|SQSTM1_ENST00000360718.5_Silent_p.L66L	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	150	Interaction with GABRR3. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.L150L(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTACGACTTGTGTAGCGTCT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	5											81	73	75					5																	179251006		2203	4300	6503	179183612	SO:0001819	synonymous_variant	8878			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.450G>A	5.37:g.179251006G>A			179183612	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Silent	SNP	ENST00000389805.4	37	CCDS34317.1																																																																																				0.632	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			A	179251006	G	A	179251006	2	1	364	1	0	0	0	0	0	0	0	1	15132	1368	48	2		2	SQSTM1	5	179251006	Silent	SNP	G	TCGA-30-1853-01A-02W-0699-08	140303511	179251006	1664254	13	20023											
GFPT2	9945	broad.mit.edu	37	5	179763577	179763577	+	Splice_Site	DEL	C	C	-			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	-	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr5:179763577delC	ENST00000253778.8	-	3	285	c.116delG	c.(115-117)ggt>gt	p.G39fs		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	39	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.G39fs*40(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GATCGCCACACCTGTGATGTA	0.488																																																1	Deletion - Frameshift(1)	ovary(1)	5											181	187	185					5																	179763577		2035	4193	6228	179696183	SO:0001630	splice_region_variant	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.116-1G>-	5.37:g.179763577delC			179696183	Q53XM2|Q9BWS4	Frame_Shift_Del	DEL	ENST00000253778.8	37	CCDS43411.1																																																																																				0.488	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	Frame_Shift_Del	-	179763577	C	-	179763577	8	5	364	1	0	1	0	1	0	0	1	0	6346	521	18	0	2000	0	GFPT2	5	179763577	Splice_Site	DEL	C	TCGA-30-1853-01A-02W-0699-08	512571	179763577	1151683	14	20024											
SLC22A23	63027	broad.mit.edu	37	6	3273559	3273559	+	Silent	SNP	G	G	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr6:3273559G>A	ENST00000406686.3	-	10	1790	c.1791C>T	c.(1789-1791)taC>taT	p.Y597Y	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000436008.2_Silent_p.Y605Y|SLC22A23_ENST00000490273.1_Silent_p.Y316Y|SLC22A23_ENST00000380302.4_Silent_p.Y316Y	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	597					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.Y316Y(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ggtgcaggaagtagcctttct	0.617																																																1	Substitution - coding silent(1)	ovary(1)	6											117	86	96					6																	3273559		2203	4300	6503	3218558	SO:0001819	synonymous_variant	63027			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1791C>T	6.37:g.3273559G>A			3218558	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	CCDS47363.1																																																																																				0.617	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		A	3273559	G	A	3273559	2	1	364	1	0	0	0	0	0	0	0	1	14455	1024	36	2		2	SLC22A23	6	3273559	Silent	SNP	G	TCGA-30-1853-01A-02W-0699-08		3273559	167841508	15	20025											
DHX16	8449	broad.mit.edu	37	6	30633303	30633303	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr6:30633303G>T	ENST00000376442.3	-	5	1069	c.874C>A	c.(874-876)Ctg>Atg	p.L292M		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	292					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.L292M(1)		kidney(2)|ovary(2)	4						GTGGCCTCCAGCTTCTCCTGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	6											107	91	97					6																	30633303		1509	2708	4217	30741282	SO:0001583	missense	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.874C>A	6.37:g.30633303G>T	ENSP00000365625:p.Leu292Met		30741282	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	g	12.23	1.875894	0.33162	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.64618	-0.11;0.85	5.12	3.28	0.37604	.	0.267749	0.36101	N	0.002783	T	0.26919	0.0659	L	0.34521	1.04	0.80722	D	1	B;B	0.24533	0.105;0.028	B;B	0.17979	0.02;0.004	T	0.14699	-1.0463	10	0.32370	T	0.25	.	5.0044	0.14280	0.1695:0.0:0.5821:0.2484	.	232;292	B4DZ28;O60231	.;DHX16_HUMAN	M	292;232	ENSP00000365625:L292M;ENSP00000399101:L232M	ENSP00000365625:L292M	L	-	1	2	DHX16	30741282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.584000	0.36589	1.353000	0.45828	0.586000	0.80456	CTG		0.637	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		T	30633303	G	T	30633303	3	4	364	1	0	0	0	0	1	0	0	0	4502	962	34	3	2315	3	DHX16	6	30633303	Missense_Mutation	SNP	G	TCGA-30-1853-01A-02W-0699-08	27359744	30633303	140481764	16	20026											
DHX16	8449	broad.mit.edu	37	6	30633415	30633415	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr6:30633415C>A	ENST00000376442.3	-	5	957	c.762G>T	c.(760-762)gaG>gaT	p.E254D		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	254					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E254D(1)		kidney(2)|ovary(2)	4						CAAAAAGGAACTCCTCATCAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	6											84	82	82					6																	30633415		1511	2708	4219	30741394	SO:0001583	missense	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.762G>T	6.37:g.30633415C>A	ENSP00000365625:p.Glu254Asp		30741394	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.044687	0.75732	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.50001	0.76;0.76	5.12	2.33	0.28932	.	0.162750	0.53938	D	0.000053	T	0.39226	0.1070	M	0.72479	2.2	0.80722	D	1	P;B	0.48911	0.917;0.024	P;B	0.49140	0.601;0.066	T	0.37244	-0.9714	10	0.59425	D	0.04	.	8.6283	0.33904	0.0:0.6771:0.0:0.3229	.	194;254	B4DZ28;O60231	.;DHX16_HUMAN	D	254;194	ENSP00000365625:E254D;ENSP00000399101:E194D	ENSP00000365625:E254D	E	-	3	2	DHX16	30741394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.878000	0.28126	0.738000	0.32606	0.586000	0.80456	GAG		0.632	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		A	30633415	C	A	30633415	3	1	364	1	0	0	0	0	1	0	0	0	4502	564	20	3	2427	3	DHX16	6	30633415	Missense_Mutation	SNP	C	TCGA-30-1853-01A-02W-0699-08	112	30633415	140481652	17	20027											
ENPP4	22875	broad.mit.edu	37	6	46111285	46111285	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr6:46111285C>T	ENST00000321037.4	+	4	1500	c.1270C>T	c.(1270-1272)Ctc>Ttc	p.L424F		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	424					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.L424F(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCTAACATGCCTCATAATAAT	0.413																																																1	Substitution - Missense(1)	ovary(1)	6											241	209	220					6																	46111285		2203	4300	6503	46219244	SO:0001583	missense	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1270C>T	6.37:g.46111285C>T	ENSP00000318066:p.Leu424Phe		46219244	A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097480	0.56075	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.73681	-0.77	5.91	5.91	0.95273	.	0.244295	0.42053	D	0.000766	T	0.68641	0.3023	L	0.56769	1.78	0.49915	D	0.999833	D	0.59767	0.986	P	0.58660	0.843	T	0.66925	-0.5800	10	0.13470	T	0.59	-12.9193	7.9409	0.29957	0.2665:0.6581:0.0:0.0753	.	424	Q9Y6X5	ENPP4_HUMAN	F	424	ENSP00000318066:L424F	ENSP00000318066:L424F	L	+	1	0	ENPP4	46219244	1.000000	0.71417	0.998000	0.56505	0.665000	0.39181	1.832000	0.39151	2.793000	0.96121	0.655000	0.94253	CTC		0.413	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			T	46111285	C	T	46111285	3	4	364	1	0	0	0	0	1	0	0	0	5132	681	24	2	1280	2	ENPP4	6	46111285	Missense_Mutation	SNP	C	TCGA-30-1853-01A-02W-0699-08	15477870	46111285	125003782	18	20028											
RNF216	54476	broad.mit.edu	37	7	5760731	5760731	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr7:5760731C>T	ENST00000425013.2	-	9	1630	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H	RNF216_ENST00000389902.3_Missense_Mutation_p.R526H	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	469					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R526H(2)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AAGGAGAGCACGTCGGTCATA	0.433																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	7											189	186	187					7																	5760731		2203	4300	6503	5727257	SO:0001583	missense	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1406G>A	7.37:g.5760731C>T	ENSP00000404602:p.Arg469His		5727257	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608380	0.28623	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.29397	1.57;1.57	5.61	2.78	0.32641	.	0.630453	0.16645	N	0.205474	T	0.13798	0.0334	N	0.08118	0	0.21841	N	0.999519	B;B	0.14805	0.011;0.002	B;B	0.09377	0.004;0.002	T	0.15065	-1.0450	10	0.52906	T	0.07	-1.025	4.4702	0.11708	0.154:0.5222:0.0:0.3238	.	469;526	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	H	469;526;281	ENSP00000404602:R469H;ENSP00000374552:R526H	ENSP00000374552:R526H	R	-	2	0	RNF216	5727257	0.001000	0.12720	0.997000	0.53966	0.965000	0.64279	-0.778000	0.04664	0.716000	0.32124	0.491000	0.48974	CGT		0.433	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		T	5760731	C	T	5760731	3	4	364	1	0	0	0	0	1	0	0	0	13483	536	19	1	1230	1	RNF216	7	5760731	Missense_Mutation	SNP	C	TCGA-30-1853-01A-02W-0699-08		5760731	153377932	19	20029											
SEMA3E	9723	broad.mit.edu	37	7	83119472	83119472	+	Silent	SNP	T	T	C			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr7:83119472T>C	ENST00000307792.3	-	2	701	c.234A>G	c.(232-234)gtA>gtG	p.V78V	SEMA3E_ENST00000427262.1_Silent_p.V18V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	78	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.V78V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGAGGGAATATACAAGGTCCC	0.408																																																1	Substitution - coding silent(1)	ovary(1)	7											87	81	83					7																	83119472		2203	4300	6503	82957408	SO:0001819	synonymous_variant	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.234A>G	7.37:g.83119472T>C			82957408	B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	CCDS34674.1																																																																																				0.408	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		C	83119472	T	C	83119472	2	2	364	1	0	0	0	0	0	0	0	1	14031	1393	49	4		4	SEMA3E	7	83119472	Silent	SNP	T	TCGA-30-1853-01A-02W-0699-08	77358741	83119472	76019191	20	20030											
ZKSCAN1	7586	broad.mit.edu	37	7	99630969	99630969	+	Missense_Mutation	SNP	G	G	T	rs144801167		TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr7:99630969G>T	ENST00000324306.6	+	6	1075	c.841G>T	c.(841-843)Gct>Tct	p.A281S	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.A68S|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.A245S	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	281	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.A281S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AACCTCAAAGGCTGAAACCTC	0.443																																																1	Substitution - Missense(1)	ovary(1)	7						G	SER/ALA	0,4406		0,0,2203	54	56	56		841	2.8	0.5	7	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZKSCAN1	NM_003439.1	99	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	281/564	99630969	1,13005	2203	4300	6503	99468905	SO:0001583	missense	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.841G>T	7.37:g.99630969G>T	ENSP00000323148:p.Ala281Ser		99468905	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	5.703	0.314289	0.10789	0.0	1.16E-4	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.06768	3.36;3.31;3.26	5.64	2.78	0.32641	Krueppel-associated box (3);	0.431641	0.20207	N	0.096969	T	0.03564	0.0102	N	0.11427	0.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46693	-0.9173	10	0.08381	T	0.77	.	6.6428	0.22919	0.3995:0.0:0.6005:0.0	.	281	P17029	ZKSC1_HUMAN	S	281;245;68	ENSP00000323148:A281S;ENSP00000409172:A245S;ENSP00000443508:A68S	ENSP00000323148:A281S	A	+	1	0	ZKSCAN1	99468905	0.003000	0.15002	0.509000	0.27700	0.042000	0.13812	0.235000	0.17948	0.425000	0.26087	0.650000	0.86243	GCT		0.443	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		T	99630969	G	T	99630969	3	4	364	1	0	0	0	0	1	0	0	0	17686	1203	42	3	859	3	ZKSCAN1	7	99630969	Missense_Mutation	SNP	G	TCGA-30-1853-01A-02W-0699-08	16511497	99630969	59507694	21	20031											
RECK	8434	broad.mit.edu	37	9	36102105	36102105	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr9:36102105A>T	ENST00000377966.3	+	12	1879	c.1313A>T	c.(1312-1314)gAg>gTg	p.E438V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	438					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E438V(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GATTGTGTGGAGATTCTTAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											102	103	103					9																	36102105		2203	4300	6503	36092105	SO:0001583	missense	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1313A>T	9.37:g.36102105A>T	ENSP00000367202:p.Glu438Val		36092105	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274766	0.59649	.	.	ENSG00000122707	ENST00000377966	T	0.50277	0.75	5.46	5.46	0.80206	.	0.047856	0.85682	D	0.000000	T	0.43344	0.1243	L	0.55213	1.73	0.47659	D	0.999482	P;P	0.50528	0.936;0.936	B;B	0.39258	0.295;0.295	T	0.51865	-0.8651	10	0.87932	D	0	-19.737	13.7874	0.63119	1.0:0.0:0.0:0.0	.	438;438	A8K9D8;O95980	.;RECK_HUMAN	V	438	ENSP00000367202:E438V	ENSP00000367202:E438V	E	+	2	0	RECK	36092105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.103000	0.77014	2.202000	0.70862	0.533000	0.62120	GAG		0.393	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			T	36102105	A	T	36102105	3	4	364	1	0	0	0	0	1	0	0	0	13203	304	11	5	1359	5	RECK	9	36102105	Missense_Mutation	SNP	A	TCGA-30-1853-01A-02W-0699-08		36102105	105111326	22	20032											
OPTN	10133	broad.mit.edu	37	10	13167990	13167990	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr10:13167990A>C	ENST00000378748.3	+	12	1555	c.1193A>C	c.(1192-1194)cAa>cCa	p.Q398P	OPTN_ENST00000263036.5_Missense_Mutation_p.Q398P|OPTN_ENST00000378752.3_Missense_Mutation_p.Q392P|OPTN_ENST00000378757.2_Missense_Mutation_p.Q398P|OPTN_ENST00000378747.3_Missense_Mutation_p.Q398P|OPTN_ENST00000378764.2_Missense_Mutation_p.Q392P	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	398					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)	p.Q398P(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AAGCTTCTTCAAGAACATAAT	0.303																																																1	Substitution - Missense(1)	ovary(1)	10											80	79	79					10																	13167990		2203	4298	6501	13207996	SO:0001583	missense	10133			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1193A>C	10.37:g.13167990A>C	ENSP00000368022:p.Gln398Pro		13207996	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	A	5.924	0.354587	0.11239	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.87650	-2.28;-2.27;-2.28;-2.27;-2.28;-2.28	5.42	4.16	0.48862	.	0.392641	0.29653	N	0.011557	T	0.81375	0.4809	L	0.57536	1.79	0.34602	D	0.716644	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.78991	-0.1985	10	0.34782	T	0.22	-11.4733	5.1526	0.15017	0.6198:0.1582:0.0:0.222	.	392;398	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	P	398;392;398;392;398;398	ENSP00000263036:Q398P;ENSP00000368040:Q392P;ENSP00000368032:Q398P;ENSP00000368027:Q392P;ENSP00000368022:Q398P;ENSP00000368021:Q398P	ENSP00000263036:Q398P	Q	+	2	0	OPTN	13207996	1.000000	0.71417	0.993000	0.49108	0.133000	0.20885	1.795000	0.38784	2.167000	0.68274	0.528000	0.53228	CAA		0.303	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		C	13167990	A	C	13167990	3	2	364	1	0	0	0	0	1	0	0	0	10889	130	5	5	1227	5	OPTN	10	13167990	Missense_Mutation	SNP	A	TCGA-30-1853-01A-02W-0699-08		13167990	122366757	23	20033											
TTC17	55761	broad.mit.edu	37	11	43418911	43418911	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr11:43418911T>A	ENST00000039989.4	+	7	802	c.788T>A	c.(787-789)aTt>aAt	p.I263N	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.I263N|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	263					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.I263N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AATAAAGACATTGCCCTGGTC	0.448																																																1	Substitution - Missense(1)	ovary(1)	11											174	143	154					11																	43418911		2203	4300	6503	43375487	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.788T>A	11.37:g.43418911T>A	ENSP00000039989:p.Ile263Asn		43375487	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	T	31	5.066589	0.93898	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.53423	0.62;0.62	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.197519	0.53938	D	0.000042	T	0.63768	0.2539	M	0.69358	2.11	0.50632	D	0.999884	D;P;D	0.65815	0.993;0.938;0.995	P;P;P	0.59889	0.794;0.548;0.865	T	0.63269	-0.6675	10	0.41790	T	0.15	-8.6293	16.3631	0.83280	0.0:0.0:0.0:1.0	.	263;263;263	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	N	263	ENSP00000299240:I263N;ENSP00000039989:I263N	ENSP00000039989:I263N	I	+	2	0	TTC17	43375487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.266000	0.75297	0.533000	0.62120	ATT		0.448	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		A	43418911	T	A	43418911	3	1	364	1	0	0	0	0	1	0	0	0	16684	1493	52	5	814	5	TTC17	11	43418911	Missense_Mutation	SNP	T	TCGA-30-1853-01A-02W-0699-08		43418911	91587605	24	20034											
NOP2	4839	broad.mit.edu	37	12	6673072	6673072	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr12:6673072C>T	ENST00000322166.5	-	6	636	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	NOP2_ENST00000541778.1_Missense_Mutation_p.R168Q|NOP2_ENST00000537442.1_Missense_Mutation_p.R172Q|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545200.1_Missense_Mutation_p.R168Q|NOP2_ENST00000399466.2_Missense_Mutation_p.R168Q|NOP2_ENST00000382421.3_Missense_Mutation_p.R205Q	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	172					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R168Q(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGCAGCTTCCCGGGCCTTCTG	0.537											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											48	48	48					12																	6673072		1886	4117	6003	6543333	SO:0001583	missense	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.515G>A	12.37:g.6673072C>T	ENSP00000313272:p.Arg172Gln	635	6543333	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551450	0.27739	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944;ENST00000542867;ENST00000536124	T;T;T;T;T;T;T;T;T	0.42131	2.55;2.6;2.56;2.56;2.55;2.56;0.98;1.03;1.01	5.83	0.32	0.15878	.	0.486350	0.22640	N	0.057469	T	0.10551	0.0258	N	0.01289	-0.905	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.04013	0.001;0.001	T	0.18745	-1.0327	10	0.07030	T	0.85	-9.5423	3.657	0.08225	0.159:0.3013:0.0:0.5396	.	205;168	Q3KQS4;P46087-2	.;.	Q	172;205;168;168;172;168;48;168;172	ENSP00000444437:R172Q;ENSP00000371858:R205Q;ENSP00000439422:R168Q;ENSP00000382392:R168Q;ENSP00000313272:R172Q;ENSP00000443150:R168Q;ENSP00000440754:R48Q;ENSP00000443035:R168Q;ENSP00000442895:R172Q	ENSP00000313272:R172Q	R	-	2	0	NOP2	6543333	0.990000	0.36364	0.992000	0.48379	0.943000	0.58893	-0.046000	0.11983	0.031000	0.15407	-0.262000	0.10625	CGG		0.537	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		T	6673072	C	T	6673072	3	4	364	1	0	0	0	0	1	0	0	0	10538	652	23	1	1967	1	NOP2	12	6673072	Missense_Mutation	SNP	C	TCGA-30-1853-01A-02W-0699-08		6673072	127178823	25	20035											
LOH12CR1	118426	broad.mit.edu	37	12	12514215	12514215	+	Missense_Mutation	SNP	G	G	A	rs144877374	byFrequency	TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr12:12514215G>A	ENST00000314565.4	+	2	465	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.R26Q|LOH12CR1_ENST00000298571.6_Intron	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	45								p.R45Q(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CAGGCCTCACGGAACGTCAGC	0.458																																																1	Substitution - Missense(1)	ovary(1)	12						G	GLN/ARG	0,4406		0,0,2203	190	172	178		134	6	1	12	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOH12CR1	NM_058169.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	45/197	12514215	1,13005	2203	4300	6503	12405482	SO:0001583	missense	118426			AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.134G>A	12.37:g.12514215G>A	ENSP00000321546:p.Arg45Gln		12405482	Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	g	15.16	2.752380	0.49362	0.0	1.16E-4	ENSG00000165714	ENST00000542728;ENST00000314565	T;T	0.30448	1.53;1.53	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.06770	-1.0808	10	0.12766	T	0.61	-22.113	20.1362	0.98031	0.0:0.0:1.0:0.0	.	45	Q969J3	L12R1_HUMAN	Q	26;45	ENSP00000443023:R26Q;ENSP00000321546:R45Q	ENSP00000321546:R45Q	R	+	2	0	LOH12CR1	12405482	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.353000	0.97080	2.861000	0.98227	0.651000	0.88453	CGG		0.458	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			A	12514215	G	A	12514215	3	1	364	1	0	0	0	0	1	0	0	0	8891	1116	39	1	140	1	LOH12CR1	12	12514215	Missense_Mutation	SNP	G	TCGA-30-1853-01A-02W-0699-08	5841143	12514215	121337680	26	20036											
C12orf60	144608	broad.mit.edu	37	12	14976540	14976540	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr12:14976540T>G	ENST00000330828.2	+	2	875	c.671T>G	c.(670-672)aTc>aGc	p.I224S	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	224								p.I224S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ATCTTAGAGATCCTCCAAAAA	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											44	43	44					12																	14976540		2193	4295	6488	14867807	SO:0001583	missense	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.671T>G	12.37:g.14976540T>G	ENSP00000331691:p.Ile224Ser		14867807	A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	T	9.482	1.098475	0.20552	.	.	ENSG00000182993	ENST00000330828	T	0.16073	2.37	4.36	1.83	0.25207	.	0.959313	0.08505	N	0.935751	T	0.12135	0.0295	N	0.24115	0.695	0.09310	N	1	B	0.32829	0.386	B	0.36766	0.232	T	0.35251	-0.9796	10	0.72032	D	0.01	-18.764	3.33	0.07080	0.2008:0.1086:0.0:0.6905	.	224	Q5U649	CL060_HUMAN	S	224	ENSP00000331691:I224S	ENSP00000331691:I224S	I	+	2	0	C12orf60	14867807	0.009000	0.17119	0.152000	0.22495	0.317000	0.28152	1.219000	0.32479	0.829000	0.34733	0.459000	0.35465	ATC		0.383	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		G	14976540	T	G	14976540	3	3	364	1	0	0	0	0	1	0	0	0	1703	1435	50	5	673	5	C12orf60	12	14976540	Missense_Mutation	SNP	T	TCGA-30-1853-01A-02W-0699-08	2462325	14976540	118875355	27	20037											
GCOM1	100820829	broad.mit.edu	37	15	57910380	57910380	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr15:57910380C>G	ENST00000267853.5	+	3	406	c.312C>G	c.(310-312)atC>atG	p.I104M	GCOM1_ENST00000380560.2_Missense_Mutation_p.I104M|GCOM1_ENST00000380569.2_Missense_Mutation_p.I104M|GCOM1_ENST00000396180.1_Missense_Mutation_p.I104M|MYZAP_ENST00000380565.4_Missense_Mutation_p.I104M|GCOM1_ENST00000380561.2_Missense_Mutation_p.I104M|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.I104M|GCOM1_ENST00000587652.1_Missense_Mutation_p.I104M|GCOM1_ENST00000572390.1_Missense_Mutation_p.I104M|GCOM1_ENST00000574161.1_Missense_Mutation_p.I104M			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	104					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)		p.I104M(1)									TGAACTACATCAAAGATGTGA	0.418																																																1	Substitution - Missense(1)	ovary(1)	15											160	144	149					15																	57910380		2192	4292	6484	55697672	SO:0001583	missense	145781			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.312C>G	15.37:g.57910380C>G	ENSP00000267853:p.Ile104Met		55697672	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600610	0.66332	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.36699	1.24;1.35;1.41;1.58;1.24;1.24;1.24	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.54289	-0.8316	10	0.52906	T	0.07	-21.5521	15.0783	0.72093	0.1424:0.8576:0.0:0.0	.	104;104;104;104	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	M	104	ENSP00000369943:I104M;ENSP00000369935:I104M;ENSP00000379483:I104M;ENSP00000369933:I104M;ENSP00000267853:I104M;ENSP00000369939:I104M;ENSP00000369942:I104M	ENSP00000267853:I104M	I	+	3	3	GCOM1	55697672	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.715000	0.37971	2.941000	0.99782	0.655000	0.94253	ATC		0.418	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		G	57910380	C	G	57910380	3	3	364	1	0	0	0	0	1	0	0	0	6304	816	29	3	322	3	GCOM1	15	57910380	Missense_Mutation	SNP	C	TCGA-30-1853-01A-02W-0699-08		57910380	44621012	28	20038											
SPTBN4	57731	broad.mit.edu	37	19	41038617	41038617	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr19:41038617G>A	ENST00000352632.3	+	19	4120	c.4034G>A	c.(4033-4035)cGg>cAg	p.R1345Q	SPTBN4_ENST00000392023.1_Missense_Mutation_p.R21Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1345Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R88Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1345Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1345Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1345					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R1345Q(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGGCTCCGGCACCAGGCA	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											64	53	57					19																	41038617		2203	4300	6503	45730457	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4034G>A	19.37:g.41038617G>A	ENSP00000263373:p.Arg1345Gln		45730457	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076301	0.94000	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.67523	0.79;0.79;-0.27;0.79	4.86	4.86	0.63082	.	0.204266	0.32175	N	0.006477	T	0.72061	0.3414	L	0.41492	1.28	0.37052	D	0.897641	D;D;D;D;D;D	0.76494	0.979;0.981;0.996;0.998;0.992;0.999	P;P;P;P;P;D	0.68943	0.788;0.535;0.709;0.905;0.709;0.961	T	0.76884	-0.2794	10	0.66056	D	0.02	.	10.4908	0.44750	0.0898:0.0:0.9102:0.0	.	1345;88;88;21;1345;1345	E9PDB1;Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;.;SPTN4_HUMAN;.	Q	1345;1345;1345;88;21	ENSP00000263373:R1345Q;ENSP00000340345:R1345Q;ENSP00000375879:R88Q;ENSP00000375877:R21Q	ENSP00000340345:R1345Q	R	+	2	0	SPTBN4	45730457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.304000	0.59104	2.499000	0.84300	0.561000	0.74099	CGG		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			A	41038617	G	A	41038617	3	1	364	1	0	0	0	0	1	0	0	0	15123	1116	39	1	4104	1	SPTBN4	19	41038617	Missense_Mutation	SNP	G	TCGA-30-1853-01A-02W-0699-08		41038617	18090366	29	20039											
ZNF749	388567	broad.mit.edu	37	19	57955798	57955798	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr19:57955798C>G	ENST00000334181.4	+	3	1532	c.1282C>G	c.(1282-1284)Cat>Gat	p.H428D	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H341D(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGTTGTTCAGCATCTGAAAAT	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											90	88	89					19																	57955798		2203	4300	6503	62647610	SO:0001583	missense	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1282C>G	19.37:g.57955798C>G	ENSP00000333980:p.His428Asp		62647610		Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637860	0.47049	.	.	ENSG00000186230	ENST00000334181	D	0.86769	-2.17	1.96	0.9	0.19278	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94079	0.8102	H	0.94847	3.59	0.20403	N	0.999909	D	0.89917	1.0	D	0.76575	0.988	D	0.84862	0.0820	9	0.87932	D	0	.	7.9891	0.30229	0.0:0.8592:0.0:0.1408	.	428	O43361	ZN749_HUMAN	D	428	ENSP00000333980:H428D	ENSP00000333980:H428D	H	+	1	0	ZNF749	62647610	0.970000	0.33590	0.002000	0.10522	0.310000	0.27922	6.083000	0.71326	0.388000	0.25054	0.460000	0.39030	CAT		0.438	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		G	57955798	C	G	57955798	3	3	364	1	0	0	0	0	1	0	0	0	18131	710	25	3	1292	3	ZNF749	19	57955798	Missense_Mutation	SNP	C	TCGA-30-1853-01A-02W-0699-08	16917181	57955798	1173185	30	20040											
RBL1	5933	broad.mit.edu	37	20	35635838	35635838	+	Silent	SNP	G	G	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr20:35635838G>A	ENST00000373664.3	-	20	2913	c.2847C>T	c.(2845-2847)taC>taT	p.Y949Y	RBL1_ENST00000344359.3_Silent_p.Y949Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	949	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.Y949Y(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCGCCAAGTCGTATTTCAGTG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	20											141	136	138					20																	35635838		2203	4300	6503	35069252	SO:0001819	synonymous_variant	5933			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2847C>T	20.37:g.35635838G>A			35069252	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	CCDS13289.1																																																																																				0.328	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		A	35635838	G	A	35635838	2	1	364	1	0	0	0	0	0	0	0	1	13112	1140	40	1		1	RBL1	20	35635838	Silent	SNP	G	TCGA-30-1853-01A-02W-0699-08		35635838	27389682	31	20041											
FAM83D	81610	broad.mit.edu	37	20	37580954	37580954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr20:37580954G>T	ENST00000217429.4	+	4	1680	c.1639G>T	c.(1639-1641)Gaa>Taa	p.E547*		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	517					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E547*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCCCCACCTGGAACTGTACTT	0.542																																																1	Substitution - Nonsense(1)	ovary(1)	20											52	54	54					20																	37580954		1893	4120	6013	37014368	SO:0001587	stop_gained	81610			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1639G>T	20.37:g.37580954G>T	ENSP00000217429:p.Glu547*		37014368	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Nonsense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	36	5.662267	0.96734	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	.	.	.	5.89	5.89	0.94794	.	0.761042	0.12662	N	0.449503	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.6578	0.56797	0.0:0.0:0.835:0.165	.	.	.	.	X	547;501	.	ENSP00000217429:E547X	E	+	1	0	FAM83D	37014368	0.877000	0.30153	0.993000	0.49108	0.904000	0.53231	2.355000	0.44107	2.763000	0.94921	0.655000	0.94253	GAA		0.542	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			T	37580954	G	T	37580954	4	4	364	1	0	0	0	0	0	1	0	0	5636	1175	41	3	1653	3	FAM83D	20	37580954	Nonsense_Mutation	SNP	G	TCGA-30-1853-01A-02W-0699-08	1945116	37580954	25444566	32	20042											
BCAS1	8537	broad.mit.edu	37	20	52591931	52591931	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr20:52591931C>A	ENST00000395961.3	-	8	1345	c.1179G>T	c.(1177-1179)gaG>gaT	p.E393D	BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000371435.2_Missense_Mutation_p.E393D	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	393						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E393D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AACTTACATTCTCCTCCGCAC	0.413																																																1	Substitution - Missense(1)	ovary(1)	20											107	97	100					20																	52591931		2203	4300	6503	52025338	SO:0001583	missense	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1179G>T	20.37:g.52591931C>A	ENSP00000379290:p.Glu393Asp		52025338	A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.71|18.71	3.681822|3.681822	0.68042|0.68042	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448710;ENST00000395961;ENST00000371435|ENST00000422805	T;T|.	0.08282|.	3.11;3.33|.	5.83|5.83	3.59|3.59	0.41128|0.41128	.|.	.|.	.|.	.|.	.|.	T|T	0.61899|0.61899	0.2384|0.2384	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.986|.	D;D;P|.	0.80764|.	0.994;0.91;0.689|.	T|T	0.60357|0.60357	-0.7279|-0.7279	9|5	0.56958|.	D|.	0.05|.	.|.	8.9833|8.9833	0.35979|0.35979	0.0:0.8068:0.0:0.1932|0.0:0.8068:0.0:0.1932	.|.	393;393;393|.	B2RCQ5;G3XAF7;O75363|.	.;.;BCAS1_HUMAN|.	D|I	271;393;393|112	ENSP00000379290:E393D;ENSP00000360490:E393D|.	ENSP00000360490:E393D|.	E|R	-|-	3|2	2|0	BCAS1|BCAS1	52025338|52025338	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	0.450000|0.450000	0.21762|0.21762	1.478000|1.478000	0.48253|0.48253	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.413	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		A	52591931	C	A	52591931	3	1	364	1	0	0	0	0	1	0	0	0	1350	912	32	3	595	3	BCAS1	20	52591931	Missense_Mutation	SNP	C	TCGA-30-1853-01A-02W-0699-08	15010977	52591931	10433589	33	20043											
TMPRSS3	64699	broad.mit.edu	37	21	43795840	43795840	+	Silent	SNP	G	G	A			TCGA-30-1853-01A-02W-0699-08	TCGA-30-1853-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	00900ef4-1012-4a8c-a173-e0bbc5efa30d	5337b78f-18b3-4628-a694-24293687d10f	g.chr21:43795840G>A	ENST00000291532.3	-	12	2287	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	TMPRSS3_ENST00000398405.1_Silent_p.I441I|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.I443I|TMPRSS3_ENST00000380399.1_Silent_p.I528I	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	444	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)	p.I444I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCTGCTCGTGGATCCAGTCCA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	21											91	85	87					21																	43795840		2203	4300	6503	42668909	SO:0001819	synonymous_variant	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1332C>T	21.37:g.43795840G>A			42668909	D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	CCDS13686.1																																																																																				0.587	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			A	43795840	G	A	43795840	2	1	364	1	0	0	0	0	0	0	0	1	16248	1164	41	2		2	TMPRSS3	21	43795840	Silent	SNP	G	TCGA-30-1853-01A-02W-0699-08		43795840	4334055	34	20044											
MACF1	23499	genome.wustl.edu	37	1	39751003	39751003	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:39751003C>G	ENST00000372915.3	+	12	1396	c.1309C>G	c.(1309-1311)Cag>Gag	p.Q437E	MACF1_ENST00000539005.1_Missense_Mutation_p.Q437E|MACF1_ENST00000545844.1_Missense_Mutation_p.Q437E|MACF1_ENST00000567887.1_Missense_Mutation_p.Q469E|MACF1_ENST00000564288.1_Missense_Mutation_p.Q432E|MACF1_ENST00000317713.7_Missense_Mutation_p.Q437E|MACF1_ENST00000361689.2_Missense_Mutation_p.Q437E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	437					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACAAAATCCAGAATGGTGC	0.398																																																0			1											127	121	123					1																	39751003		2203	4300	6503	39523590	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1309C>G	1.37:g.39751003C>G	ENSP00000362006:p.Gln437Glu		39523590	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	28.0	4.879903	0.91740	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.67	5.67	0.87782	.	.	.	.	.	D	0.97005	0.9022	M	0.84326	2.69	0.80722	D	1	D;D	0.61697	0.99;0.981	D;P	0.72982	0.979;0.832	D	0.97192	0.9858	9	0.87932	D	0	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	437;402	F8W8Q1;Q9UPN3-3	.;.	E	437;437;437;437;437;395;586;597	ENSP00000439537:Q437E;ENSP00000362006:Q437E;ENSP00000354573:Q437E;ENSP00000313438:Q437E;ENSP00000444364:Q437E;ENSP00000435070:Q395E;ENSP00000437059:Q586E	ENSP00000313438:Q437E	Q	+	1	0	MACF1	39523590	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.687000	0.91594	0.655000	0.94253	CAG		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39751003	C	G	39751003	3	3	365	1	0	0	0	0	1	0	0	0	9144	595	21	3	1355	3	MACF1	1	39751003	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09		39751003	209499618	1	20045											
TESK2	10420	genome.wustl.edu	37	1	45923454	45923454	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:45923454C>A	ENST00000372086.3	-	2	404	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.D2Y|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000341771.6_Missense_Mutation_p.D2Y|TESK2_ENST00000451835.2_Missense_Mutation_p.D2Y	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	2					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TTGCTCCGATCCATAGTCTAA	0.398																																																0			1											95	90	92					1																	45923454		1840	4092	5932	45696041	SO:0001583	missense	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.4G>T	1.37:g.45923454C>A	ENSP00000361158:p.Asp2Tyr		45696041	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294694	0.81025	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000451835	T;T;T;T	0.75367	-0.89;-0.93;-0.89;2.24	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000006	T	0.80325	0.4602	L	0.29908	0.895	0.53688	D	0.999977	D;D;D	0.89917	0.971;1.0;1.0	P;D;D	0.72338	0.641;0.977;0.95	T	0.83127	-0.0115	10	0.87932	D	0	-19.1026	18.4182	0.90577	0.0:1.0:0.0:0.0	.	2;2;2	B4DRH9;Q96S53-3;Q96S53	.;.;TESK2_HUMAN	Y	2	ENSP00000361156:D2Y;ENSP00000361158:D2Y;ENSP00000343940:D2Y;ENSP00000397244:D2Y	ENSP00000343940:D2Y	D	-	1	0	TESK2	45696041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.996000	0.76263	2.365000	0.80145	0.585000	0.79938	GAT		0.398	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		A	45923454	C	A	45923454	3	1	365	1	0	0	0	0	1	0	0	0	15768	855	30	3	1751	3	TESK2	1	45923454	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	6172451	45923454	203327167	2	20046											
TMEM69	51249	genome.wustl.edu	37	1	46159281	46159281	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:46159281C>T	ENST00000372025.4	+	3	1605	c.448C>T	c.(448-450)Cca>Tca	p.P150S	TMEM69_ENST00000496366.1_3'UTR|RP11-767N6.7_ENST00000430643.1_RNA	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	150						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTTTGCTCTACCAGAAGGTAG	0.413																																																0			1											86	84	84					1																	46159281		1863	4094	5957	45931868	SO:0001583	missense	51249			BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 154"	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.448C>T	1.37:g.46159281C>T	ENSP00000361095:p.Pro150Ser		45931868	Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	37	CCDS41325.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568204	0.65651	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.83	3.88	0.44766	.	0.150618	0.64402	D	0.000011	T	0.67534	0.2903	L	0.48642	1.525	0.54753	D	0.999987	D	0.69078	0.997	D	0.67103	0.949	T	0.65232	-0.6218	9	0.37606	T	0.19	-2.307	14.8253	0.70107	0.2631:0.7369:0.0:0.0	.	150	Q5SWH9	TMM69_HUMAN	S	150	.	ENSP00000361095:P150S	P	+	1	0	TMEM69	45931868	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.727000	0.54984	0.731000	0.32448	0.491000	0.48974	CCA		0.413	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		T	46159281	C	T	46159281	3	4	365	1	0	0	0	0	1	0	0	0	16198	507	18	2	454	2	TMEM69	1	46159281	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	235827	46159281	203091340	3	20047											
ZCCHC11	23318	genome.wustl.edu	37	1	52991500	52991500	+	Silent	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:52991500T>C	ENST00000371544.3	-	2	715	c.453A>G	c.(451-453)gaA>gaG	p.E151E	ZCCHC11_ENST00000257177.4_Silent_p.E151E|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Silent_p.E151E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	151					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGGTACTTTTTCTGACTTCA	0.383																																																0			1											186	192	190					1																	52991500		2203	4300	6503	52764088	SO:0001819	synonymous_variant	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.453A>G	1.37:g.52991500T>C			52764088	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	CCDS30716.1																																																																																				0.383	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		C	52991500	T	C	52991500	2	2	365	1	0	0	0	0	0	0	0	1	17580	1838	64	4		4	ZCCHC11	1	52991500	Silent	SNP	T	TCGA-30-1855-01A-01W-0639-09	6832219	52991500	196259121	4	20048											
TNNI3K	51086	genome.wustl.edu	37	1	75005960	75005960	+	Missense_Mutation	SNP	G	G	T	rs201613442		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:75005960G>T	ENST00000326637.3	+	24	2445	c.2394G>T	c.(2392-2394)atG>atT	p.M798I	TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.M912I|TNNI3K_ENST00000370891.2_Missense_Mutation_p.M899I	NM_015978.2	NP_057062.1			TNNI3 interacting kinase									p.M798I(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TGGAGGAGATGAAAAGAAGTC	0.353																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	1											98	97	98					1																	75005960		2203	4299	6502	74778548	SO:0001583	missense	51086			AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.2394G>T	1.37:g.75005960G>T	ENSP00000322251:p.Met798Ile		74778548		Missense_Mutation	SNP	ENST00000326637.3	37	CCDS664.1	.	.	.	.	.	.	.	.	.	.	G	8.780	0.927949	0.18056	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.73681	-0.77;-0.77;-0.75	5.25	4.32	0.51571	.	0.405801	0.29185	N	0.012900	T	0.39911	0.1096	N	0.14661	0.345	0.32947	D	0.519177	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21075	-1.0256	10	0.30854	T	0.27	.	12.7874	0.57514	0.0:0.0:0.8357:0.1643	.	798;899	Q59H18;Q59H18-1	TNI3K_HUMAN;.	I	899;899;798	ENSP00000450895:M899I;ENSP00000359928:M899I;ENSP00000322251:M798I	ENSP00000322251:M798I	M	+	3	0	RP11-653A5.2;AC093158.1	74778548	1.000000	0.71417	0.700000	0.30305	0.269000	0.26545	5.928000	0.70088	1.554000	0.49487	0.655000	0.94253	ATG		0.353	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026432.1	NM_015978		T	75005960	G	T	75005960	3	4	365	1	0	0	0	0	1	0	0	0	16329	1290	45	3	2843	3	TNNI3K	1	75005960	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	22014460	75005960	174244661	5	20049											
TRIM33	51592	genome.wustl.edu	37	1	114948336	114948336	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:114948336G>C	ENST00000358465.2	-	15	2547	c.2464C>G	c.(2464-2466)Ctg>Gtg	p.L822V	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.L822V|TRIM33_ENST00000450349.2_Missense_Mutation_p.L454V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	822					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTAGATGCAGGTTGGTTGAG	0.408			T	RET	papillary thyroid																																		Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0			1											108	108	108					1																	114948336		2203	4300	6503	114749859	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2464C>G	1.37:g.114948336G>C	ENSP00000351250:p.Leu822Val		114749859	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	9.125	1.010037	0.19277	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.75367	-0.8;-0.68;-0.93	5.19	2.9	0.33743	.	0.423839	0.24831	N	0.035249	T	0.24547	0.0595	N	0.14661	0.345	0.36289	D	0.856288	B;B;B;B;B	0.11235	0.001;0.001;0.004;0.001;0.001	B;B;B;B;B	0.09377	0.003;0.002;0.004;0.004;0.002	T	0.31336	-0.9947	10	0.02654	T	1	-6.7168	2.8039	0.05422	0.3306:0.2435:0.4259:0.0	.	454;454;17;822;822	E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.;.;.;.;TRI33_HUMAN	V	822;822;454	ENSP00000351250:L822V;ENSP00000358556:L822V;ENSP00000412077:L454V	ENSP00000351250:L822V	L	-	1	2	TRIM33	114749859	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.394000	0.34509	1.318000	0.45170	0.491000	0.48974	CTG		0.408	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		C	114948336	G	C	114948336	3	2	365	1	0	0	0	0	1	0	0	0	16507	991	35	3	943	3	TRIM33	1	114948336	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	39942376	114948336	134302285	6	20050											
GDAP2	54834	genome.wustl.edu	37	1	118449149	118449149	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:118449149A>G	ENST00000369443.5	-	6	864	c.615T>C	c.(613-615)ttT>ttC	p.F205F	GDAP2_ENST00000369442.3_Silent_p.F205F	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	205	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CAGAGACAGCAAATACTACTT	0.299																																																0			1											112	128	123					1																	118449149		2203	4297	6500	118250672	SO:0001819	synonymous_variant	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.615T>C	1.37:g.118449149A>G			118250672	Q96DZ0	Silent	SNP	ENST00000369443.5	37	CCDS897.1																																																																																				0.299	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		G	118449149	A	G	118449149	2	3	365	1	0	0	0	0	0	0	0	1	6309	127	5	4		4	GDAP2	1	118449149	Silent	SNP	A	TCGA-30-1855-01A-01W-0639-09	3500813	118449149	130801472	7	20051											
FLG	2312	genome.wustl.edu	37	1	152275617	152275617	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:152275617A>G	ENST00000368799.1	-	3	11780	c.11745T>C	c.(11743-11745)tcT>tcC	p.S3915S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3915	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTACAGGTGAAGACTGTACAT	0.498									Ichthyosis																																							0			1											117	113	114					1																	152275617		2203	4300	6503	150542241	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11745T>C	1.37:g.152275617A>G			150542241	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.498	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152275617	A	G	152275617	2	3	365	1	0	0	0	0	0	0	0	1	5922	59	3	4		4	FLG	1	152275617	Silent	SNP	A	TCGA-30-1855-01A-01W-0639-09	33826468	152275617	96975004	8	20052											
AIM2	9447	genome.wustl.edu	37	1	159038365	159038365	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:159038365T>C	ENST00000368130.4	-	3	677	c.389A>G	c.(388-390)cAt>cGt	p.H130R	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	130					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TACCTTAACATGAGGAGAGAC	0.453																																																0			1											240	183	202					1																	159038365		2203	4300	6503	157304989	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.389A>G	1.37:g.159038365T>C	ENSP00000357112:p.His130Arg		157304989	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	T	0.054	-1.240614	0.01493	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.29397	3.18;1.57	2.44	-3.75	0.04372	.	.	.	.	.	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	B	0.19331	0.035	B	0.09377	0.004	T	0.39035	-0.9633	9	0.18710	T	0.47	0.415	1.0887	0.01659	0.1909:0.1336:0.3873:0.2882	.	130	O14862	AIM2_HUMAN	R	130	ENSP00000357112:H130R;ENSP00000405197:H130R	ENSP00000357112:H130R	H	-	2	0	AIM2	157304989	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	-1.151000	0.03175	-0.912000	0.03837	-0.496000	0.04628	CAT		0.453	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		C	159038365	T	C	159038365	3	2	365	1	0	0	0	0	1	0	0	0	432	1464	51	4	658	4	AIM2	1	159038365	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	6762748	159038365	90212256	9	20053											
SRGAP2	23380	genome.wustl.edu	37	1	206610362	206610362	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:206610362G>A	ENST00000414007.1	+	11	1183	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	535	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CCAGGTGGAAGTGAATGACAT	0.428																																																0			1											158	156	157					1																	206610362		2043	4248	6291	204676985	SO:0001583	missense	23380			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1183G>A	1.37:g.206610362G>A	ENSP00000390898:p.Val395Met		204676985		Missense_Mutation	SNP	ENST00000414007.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.116101|5.116101	0.94339|0.94339	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000414359;ENST00000414007;ENST00000439126	.|T;T	.|0.23147	.|1.92;1.92	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55893|0.55893	0.1949|0.1949	.|.	.|.	.|.	.|.	.|.	.|.	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.85130	.|0.985;0.997	T|T	0.58393|0.58393	-0.7644|-0.7644	3|8	.|0.87932	.|D	.|0	.|.	19.7538|19.7538	0.96281|0.96281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|382;535	.|B4DDU0;O75044	.|.;FNBP2_HUMAN	N|M	448|448;395;149	.|ENSP00000390898:V395M;ENSP00000403036:V149M	.|ENSP00000390898:V395M	S|V	+|+	2|1	0|0	SRGAP2|SRGAP2	204676985|204676985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.428	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		A	206610362	G	A	206610362	3	1	365	1	0	0	0	0	1	0	0	0	15148	1029	36	2	1389	2	SRGAP2	1	206610362	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	47571997	206610362	42640259	10	20054											
CAPN9	10753	genome.wustl.edu	37	1	230923277	230923277	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:230923277C>T	ENST00000271971.2	+	13	1641	c.1528C>T	c.(1528-1530)Cca>Tca	p.P510S	RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.P484S|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.P447S|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	510	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCCTCCAAAGCCAACTCCACC	0.498																																																0			1											97	86	90					1																	230923277		2203	4300	6503	228989900	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1528C>T	1.37:g.230923277C>T	ENSP00000271971:p.Pro510Ser		228989900	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598589	0.46318	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.94537	-3.45;-3.45;-3.45	5.26	3.37	0.38596	.	0.154351	0.64402	D	0.000012	D	0.94311	0.8172	L	0.42245	1.32	0.33936	D	0.642689	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92292	0.5842	10	0.19147	T	0.46	.	7.92	0.29839	0.0:0.7513:0.162:0.0867	.	447;484;510	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	S	510;484;447	ENSP00000271971:P510S;ENSP00000346538:P484S;ENSP00000355626:P447S	ENSP00000271971:P510S	P	+	1	0	CAPN9	228989900	0.980000	0.34600	0.002000	0.10522	0.023000	0.10783	4.505000	0.60421	0.573000	0.29400	0.655000	0.94253	CCA		0.498	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		T	230923277	C	T	230923277	3	4	365	1	0	0	0	0	1	0	0	0	2632	739	26	2	1578	2	CAPN9	1	230923277	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	24312915	230923277	18327344	11	20055											
TARBP1	6894	genome.wustl.edu	37	1	234584273	234584273	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:234584273C>T	ENST00000040877.1	-	11	1913	c.1914G>A	c.(1912-1914)ctG>ctA	p.L638L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	638					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)			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)			GCAAGACCATCAGAGAAACAA	0.368																																																0			1											111	104	106					1																	234584273		2203	4300	6503	232650896	SO:0001819	synonymous_variant	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.1914G>A	1.37:g.234584273C>T			232650896	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																				0.368	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		T	234584273	C	T	234584273	2	4	365	1	0	0	0	0	0	0	0	1	15555	813	29	2		2	TARBP1	1	234584273	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	3660996	234584273	14666348	12	20056											
HEATR1	55127	genome.wustl.edu	37	1	236721773	236721773	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:236721773T>A	ENST00000366582.3	-	36	5082	c.4968A>T	c.(4966-4968)aaA>aaT	p.K1656N	HEATR1_ENST00000366581.2_Missense_Mutation_p.K1575N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1656					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCCCTTCCTTTTTCTTACGCT	0.418																																																0			1											115	100	105					1																	236721773		2203	4300	6503	234788396	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4968A>T	1.37:g.236721773T>A	ENSP00000355541:p.Lys1656Asn		234788396	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553760	0.45487	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.05139	3.49;3.49	6.17	-2.43	0.06522	Armadillo-like helical (1);Armadillo-type fold (1);	0.634993	0.17165	N	0.184502	T	0.04770	0.0129	L	0.40543	1.245	0.09310	N	1	B;B	0.24823	0.016;0.112	B;B	0.24155	0.011;0.051	T	0.40664	-0.9551	10	0.22109	T	0.4	.	8.2131	0.31494	0.0:0.4477:0.1234:0.4289	.	1575;1656	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	N	1656;1575	ENSP00000355541:K1656N;ENSP00000355540:K1575N	ENSP00000355540:K1575N	K	-	3	2	HEATR1	234788396	0.147000	0.22687	0.000000	0.03702	0.980000	0.70556	1.478000	0.35442	-0.688000	0.05155	0.533000	0.62120	AAA		0.418	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		A	236721773	T	A	236721773	3	1	365	1	0	0	0	0	1	0	0	0	7027	1838	64	5	1506	5	HEATR1	1	236721773	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	2137500	236721773	12528848	13	20057											
OR2T2	401992	genome.wustl.edu	37	1	248616851	248616851	+	Silent	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:248616851T>G	ENST00000342927.3	+	1	775	c.753T>G	c.(751-753)gtT>gtG	p.V251V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTGAGCGTTTTCTACGGGG	0.557																																																0			1											30	23	25					1																	248616851		2192	4262	6454	246683474	SO:0001819	synonymous_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.753T>G	1.37:g.248616851T>G			246683474	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																				0.557	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		G	248616851	T	G	248616851	2	3	365	1	0	0	0	0	0	0	0	1	11020	1828	64	5		5	OR2T2	1	248616851	Silent	SNP	T	TCGA-30-1855-01A-01W-0639-09	11895078	248616851	633770	14	20058											
PGBD2	267002	genome.wustl.edu	37	1	249212252	249212252	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:249212252T>C	ENST00000329291.5	+	3	1616	c.1469T>C	c.(1468-1470)gTc>gCc	p.V490A	PGBD2_ENST00000539153.1_Missense_Mutation_p.V487A|PGBD2_ENST00000355360.4_Missense_Mutation_p.V239A	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	490										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATTGGCTATGTCATTGATGCT	0.507																																																0			1											187	147	160					1																	249212252		2203	4300	6503	247178875	SO:0001583	missense	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1469T>C	1.37:g.249212252T>C	ENSP00000331643:p.Val490Ala		247178875	B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	4.250	0.045412	0.08196	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.18960	2.18;2.18;2.18	2.95	2.95	0.34219	.	1.051240	0.07564	N	0.917402	T	0.08313	0.0207	N	0.01576	-0.805	0.20196	N	0.999923	B;B	0.26975	0.082;0.165	B;B	0.24701	0.045;0.055	T	0.20240	-1.0281	10	0.33940	T	0.23	-9.2739	7.7121	0.28684	0.0:0.0:0.0:1.0	.	487;490	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	A	239;490;487	ENSP00000355424:V239A;ENSP00000331643:V490A;ENSP00000439950:V487A	ENSP00000331643:V490A	V	+	2	0	PGBD2	247178875	0.575000	0.26692	0.210000	0.23637	0.629000	0.37895	1.856000	0.39389	1.580000	0.49851	0.383000	0.25322	GTC		0.507	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			C	249212252	T	C	249212252	3	2	365	1	0	0	0	0	1	0	0	0	11781	1667	58	4	1475	4	PGBD2	1	249212252	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	595401	249212252	38369	15	20059											
SH2D6	284948	genome.wustl.edu	37	2	85662568	85662568	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:85662568G>A	ENST00000340326.2	+	2	362	c.201G>A	c.(199-201)tcG>tcA	p.S67S	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Intron|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	67	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						CTTGGTACTCGGGGAACTGTG	0.567																																																0			2											108	108	108					2																	85662568		2203	4300	6503	85516079	SO:0001819	synonymous_variant	284948			AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.201G>A	2.37:g.85662568G>A			85516079	A6ND14|Q6R306	Silent	SNP	ENST00000340326.2	37	CCDS1976.1																																																																																				0.567	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		A	85662568	G	A	85662568	2	1	365	1	0	0	0	0	0	0	0	1	14241	1103	39	1		1	SH2D6	2	85662568	Silent	SNP	G	TCGA-30-1855-01A-01W-0639-09		85662568	157536805	16	20060											
GPR39	2863	genome.wustl.edu	37	2	133402828	133402828	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:133402828G>A	ENST00000329321.3	+	2	1480	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	337					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCTCAGCTCGGTCATCAACC	0.617																																																0			2											113	96	102					2																	133402828		2203	4300	6503	133119298	SO:0001819	synonymous_variant	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1011G>A	2.37:g.133402828G>A			133119298	B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	CCDS2170.1																																																																																				0.617	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			A	133402828	G	A	133402828	2	1	365	1	0	0	0	0	0	0	0	1	6693	1103	39	1		1	GPR39	2	133402828	Silent	SNP	G	TCGA-30-1855-01A-01W-0639-09	47740260	133402828	109796545	17	20061											
NCKAP5	344148	genome.wustl.edu	37	2	133542997	133542997	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:133542997C>T	ENST00000409261.1	-	14	1760	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E463K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	463										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGTGGGGTTCCTTGCAGGGG	0.488																																																0			2											59	58	58					2																	133542997		1890	4116	6006	133259467	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1387G>A	2.37:g.133542997C>T	ENSP00000387128:p.Glu463Lys		133259467	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	10.06	1.245627	0.22796	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11277	2.79;2.79	5.38	1.16	0.20824	.	0.829033	0.09551	U	0.786864	T	0.07458	0.0188	N	0.24115	0.695	0.09310	N	1	P	0.37276	0.589	B	0.36608	0.229	T	0.34403	-0.9830	10	0.59425	D	0.04	.	5.6213	0.17459	0.0:0.6093:0.1383:0.2524	.	463	O14513	NCKP5_HUMAN	K	463	ENSP00000387128:E463K;ENSP00000380603:E463K	ENSP00000380603:E463K	E	-	1	0	NCKAP5	133259467	0.001000	0.12720	0.003000	0.11579	0.337000	0.28794	1.268000	0.33062	0.292000	0.22492	-0.364000	0.07487	GAA		0.488	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		T	133542997	C	T	133542997	3	4	365	1	0	0	0	0	1	0	0	0	10223	864	30	2	4370	2	NCKAP5	2	133542997	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	140169	133542997	109656376	18	20062											
SLC4A10	57282	genome.wustl.edu	37	2	162751334	162751334	+	Splice_Site	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:162751334A>T	ENST00000446997.1	+	11	1433	c.1340A>T	c.(1339-1341)cAg>cTg	p.Q447L	SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000375514.5_Splice_Site_p.Q428L|SLC4A10_ENST00000272716.5_Splice_Site_p.Q417L|SLC4A10_ENST00000415876.2_Splice_Site_p.Q417L|SLC4A10_ENST00000421911.1_Splice_Site_p.Q447L|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	447					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GTTCCTTCCCAGGTATGTATA	0.299																																																0			2											101	95	97					2																	162751334		1803	4074	5877	162459580	SO:0001630	splice_region_variant	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1341+1A>T	2.37:g.162751334A>T			162459580	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171420	0.78452	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.37	5.37	0.77165	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.91327	0.7265	M	0.89904	3.07	0.80722	D	1	D;B;D;P	0.76494	0.999;0.125;0.999;0.77	D;B;D;B	0.91635	0.999;0.05;0.999;0.396	D	0.92849	0.6295	10	0.62326	D	0.03	.	15.6669	0.77236	1.0:0.0:0.0:0.0	.	428;447;417;447	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	L	428;417;417;416;447;447;446	ENSP00000364664:Q428L;ENSP00000395797:Q417L;ENSP00000272716:Q417L;ENSP00000393066:Q447L;ENSP00000404486:Q447L	ENSP00000272716:Q417L	Q	+	2	0	SLC4A10	162459580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.170000	0.68504	0.533000	0.62120	CAG		0.299	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	Missense_Mutation	T	162751334	A	T	162751334	5	4	365	1	0	0	0	0	0	0	1	0	14654	202	7	5	1467	5	SLC4A10	2	162751334	Splice_Site	SNP	A	TCGA-30-1855-01A-01W-0639-09	29208337	162751334	80448039	19	20063											
LRP2	4036	genome.wustl.edu	37	2	170060696	170060696	+	Missense_Mutation	SNP	A	A	G	rs554748412		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:170060696A>G	ENST00000263816.3	-	42	8086	c.7801T>C	c.(7801-7803)Tat>Cat	p.Y2601H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2601					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TACTGGCCATAGAGAGTCAAG	0.443																																																0			2											153	162	159					2																	170060696		2203	4300	6503	169768942	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7801T>C	2.37:g.170060696A>G	ENSP00000263816:p.Tyr2601His		169768942	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796703	0.70567	.	.	ENSG00000081479	ENST00000263816	D	0.95949	-3.86	5.78	3.33	0.38152	Six-bladed beta-propeller, TolB-like (1);	0.241123	0.43747	D	0.000533	D	0.95658	0.8588	L	0.61218	1.895	0.80722	D	1	D	0.60160	0.987	P	0.60609	0.877	D	0.92970	0.6397	10	0.37606	T	0.19	.	7.411	0.27017	0.7925:0.0:0.0687:0.1388	.	2601	P98164	LRP2_HUMAN	H	2601	ENSP00000263816:Y2601H	ENSP00000263816:Y2601H	Y	-	1	0	LRP2	169768942	1.000000	0.71417	0.860000	0.33809	0.850000	0.48378	5.364000	0.66110	0.405000	0.25532	0.533000	0.62120	TAT		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170060696	A	G	170060696	3	3	365	1	0	0	0	0	1	0	0	0	8956	420	15	4	6318	4	LRP2	2	170060696	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09	7309362	170060696	73138677	20	20064											
RAPGEF4	11069	genome.wustl.edu	37	2	173852956	173852956	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:173852956T>A	ENST00000397081.3	+	13	1326	c.1183T>A	c.(1183-1185)Tac>Aac	p.Y395N	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.Y395N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.Y394N|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.Y242N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.Y224N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.Y251N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.Y242N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.Y175N|RAPGEF4_ENST00000473043.1_3'UTR	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	395					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TACCTCCTGGTACATTATTCT	0.338																																																0			2											139	127	130					2																	173852956		1817	4082	5899	173561202	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1183T>A	2.37:g.173852956T>A	ENSP00000380271:p.Tyr395Asn		173561202	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770316	0.90108	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	5.52	5.52	0.82312	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	H	0.97540	4.025	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.91635	0.999;0.981;0.994;0.985	D	0.99790	1.1031	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	222;224;251;395	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2	.;.;.;RPGF4_HUMAN	N	394;395;395;251;224;242;242;222;175	ENSP00000264111:Y394N;ENSP00000380271:Y395N;ENSP00000387104:Y395N;ENSP00000380276:Y251N;ENSP00000440135:Y224N;ENSP00000440250:Y242N;ENSP00000437384:Y242N;ENSP00000438011:Y175N	ENSP00000264111:Y394N	Y	+	1	0	RAPGEF4	173561202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.640000	0.83355	2.222000	0.72286	0.533000	0.62120	TAC		0.338	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		A	173852956	T	A	173852956	3	1	365	1	0	0	0	0	1	0	0	0	13049	1638	57	5	1249	5	RAPGEF4	2	173852956	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	3792260	173852956	69346417	21	20065											
TTN	7273	genome.wustl.edu	37	2	179474501	179474501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:179474501C>A	ENST00000591111.1	-	222	46950	c.46726G>T	c.(46726-46728)Gag>Tag	p.E15576*	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E8344*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E8152*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E8277*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E17217*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E14649*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15576	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTGGTACTCTTTCCCCTCT	0.478																																																0			2											353	336	341					2																	179474501		1913	4124	6037	179182746	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46726G>T	2.37:g.179474501C>A	ENSP00000465570:p.Glu15576*		179182746	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	60	40.589061	0.99985	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	.	.	.	X	14649;8152;8344;8277;8152	.	ENSP00000340554:E8344X	E	-	1	0	TTN	179182746	0.989000	0.36119	1.000000	0.80357	0.965000	0.64279	1.836000	0.39191	2.753000	0.94483	0.655000	0.94253	GAG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179474501	C	A	179474501	4	1	365	1	0	0	0	0	0	1	0	0	16735	922	32	3	56408	3	TTN	2	179474501	Nonsense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	5621545	179474501	63724872	22	20066											
TTN	7273	genome.wustl.edu	37	2	179593505	179593505	+	Splice_Site	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:179593505T>C	ENST00000591111.1	-	64	18421	c.18197A>G	c.(18196-18198)gAa>gGa	p.E6066G	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Splice_Site_p.E6383G|TTN_ENST00000342992.6_Splice_Site_p.E5139G|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12854					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAGCTGGTTCTGTAGTAAA	0.383																																																0			2											97	86	89					2																	179593505		1877	4112	5989	179301750	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18197-1A>G	2.37:g.179593505T>C			179301750	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	9.043	0.990260	0.18966	.	.	ENSG00000155657	ENST00000342992	T	0.42900	0.96	5.63	5.63	0.86233	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65471	0.2694	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.69465	-0.5138	9	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	6066	Q8WZ42	TITIN_HUMAN	G	5139	ENSP00000343764:E5139G	ENSP00000343764:E5139G	E	-	2	0	TTN	179301750	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.221000	0.72243	2.281000	0.76405	0.533000	0.62120	GAA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	C	179593505	T	C	179593505	5	2	365	1	0	0	0	0	0	0	1	0	16735	1797	62	4	85569	4	TTN	2	179593505	Splice_Site	SNP	T	TCGA-30-1855-01A-01W-0639-09	119004	179593505	63605868	23	20067											
GLB1L	79411	genome.wustl.edu	37	2	220104811	220104811	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:220104811C>G	ENST00000295759.7	-	7	865	c.552G>C	c.(550-552)gaG>gaC	p.E184D	GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.E184D|GLB1L_ENST00000497855.1_Intron|GLB1L_ENST00000409640.1_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	184					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATATTCATTCTCCACCTGCC	0.537																																																0			2											67	67	67					2																	220104811		2203	4300	6503	219813055	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.552G>C	2.37:g.220104811C>G	ENSP00000295759:p.Glu184Asp		219813055	Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	CCDS2437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.108520|3.108520	0.56291|0.56291	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000295759;ENST00000392089|ENST00000440853	D;D|.	0.99545|.	-6.13;-6.13|.	5.37|5.37	0.452|0.452	0.16634|0.16634	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75102|0.75102	0.3804|0.3804	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.75741|0.75741	-0.3211|-0.3211	10|5	0.87932|.	D|.	0|.	-21.8571|-21.8571	11.1286|11.1286	0.48333|0.48333	0.0:0.5961:0.0:0.4039|0.0:0.5961:0.0:0.4039	.|.	184|.	Q6UWU2|.	GLB1L_HUMAN|.	D|T	184|117	ENSP00000295759:E184D;ENSP00000375939:E184D|.	ENSP00000295759:E184D|.	E|R	-|-	3|2	2|0	GLB1L|GLB1L	219813055|219813055	0.965000|0.965000	0.33210|0.33210	0.999000|0.999000	0.59377|0.59377	0.761000|0.761000	0.43186|0.43186	0.179000|0.179000	0.16840|0.16840	0.119000|0.119000	0.18210|0.18210	-0.142000|-0.142000	0.14014|0.14014	GAG|AGA		0.537	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		G	220104811	C	G	220104811	3	3	365	1	0	0	0	0	1	0	0	0	6428	912	32	3	1456	3	GLB1L	2	220104811	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	40511306	220104811	23094562	24	20068											
FYCO1	79443	genome.wustl.edu	37	3	46003822	46003822	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr3:46003822T>C	ENST00000296137.2	-	11	3537	c.3332A>G	c.(3331-3333)cAg>cGg	p.Q1111R	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q1111R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1111					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGTCACCTCCTGGCAGAGTTT	0.478																																																0			3											314	313	313					3																	46003822		2203	4300	6503	45978826	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3332A>G	3.37:g.46003822T>C	ENSP00000296137:p.Gln1111Arg		45978826	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971261	0.34754	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23147	1.93;1.92	5.91	4.76	0.60689	.	0.559983	0.20042	N	0.100487	T	0.19208	0.0461	L	0.50333	1.59	0.27861	N	0.940402	P;B	0.35077	0.483;0.046	B;B	0.25140	0.058;0.021	T	0.11767	-1.0574	10	0.16896	T	0.51	-18.7368	10.3245	0.43785	0.0:0.0733:0.0:0.9267	.	1111;1111	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	R	1111	ENSP00000296137:Q1111R;ENSP00000441178:Q1111R	ENSP00000296137:Q1111R	Q	-	2	0	FYCO1	45978826	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.485000	0.53208	1.075000	0.40932	0.533000	0.62120	CAG		0.478	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		C	46003822	T	C	46003822	3	2	365	1	0	0	0	0	1	0	0	0	6125	1580	55	4	1136	4	FYCO1	3	46003822	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09		46003822	152018608	25	20069											
LMOD3	56203	genome.wustl.edu	37	3	69171426	69171426	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr3:69171426C>G	ENST00000420581.2	-	1	291	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	LMOD3_ENST00000475434.1_Missense_Mutation_p.E38Q|LMOD3_ENST00000489031.1_Missense_Mutation_p.E38Q	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	38						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ACTTCCATTTCCGACTGCAGT	0.443																																																0			3											69	66	67					3																	69171426		1878	4105	5983	69254116	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.112G>C	3.37:g.69171426C>G	ENSP00000414670:p.Glu38Gln		69254116	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575078	0.86542	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.32515	1.45;1.45;1.45	5.59	4.71	0.59529	.	0.092891	0.64402	D	0.000001	T	0.56834	0.2012	M	0.82056	2.57	0.58432	D	0.999998	D	0.89917	1.0	D	0.72338	0.977	T	0.62511	-0.6839	10	0.59425	D	0.04	-33.2254	14.1954	0.65667	0.0:0.9282:0.0:0.0718	.	38	Q0VAK6	LMOD3_HUMAN	Q	38	ENSP00000414670:E38Q;ENSP00000417210:E38Q;ENSP00000418645:E38Q	ENSP00000414670:E38Q	E	-	1	0	LMOD3	69254116	1.000000	0.71417	0.877000	0.34402	0.982000	0.71751	7.818000	0.86416	1.367000	0.46095	0.591000	0.81541	GAA		0.443	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		G	69171426	C	G	69171426	3	3	365	1	0	0	0	0	1	0	0	0	8858	864	30	3	1582	3	LMOD3	3	69171426	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	23167604	69171426	128851004	26	20070											
CLNK	116449	genome.wustl.edu	37	4	10542159	10542159	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:10542159T>A	ENST00000226951.6	-	11	800	c.561A>T	c.(559-561)ttA>ttT	p.L187F	CLNK_ENST00000507719.1_Missense_Mutation_p.L145F|CLNK_ENST00000442825.2_Missense_Mutation_p.L145F	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	187					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GTCTCTGAGATAAAGGTGGCC	0.547																																					GBM(87;402 1286 6949 13902 35851)											0			4											86	88	87					4																	10542159		2002	4184	6186	10151257	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.561A>T	4.37:g.10542159T>A	ENSP00000226951:p.Leu187Phe		10151257	Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	T	6.222	0.409095	0.11812	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.47528	1.73;0.84;0.84	5.64	-0.704	0.11256	.	1.825130	0.03221	N	0.177481	T	0.23492	0.0568	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.11665	-1.0578	10	0.36615	T	0.2	0.9525	2.233	0.04001	0.1743:0.1139:0.4504:0.2614	.	145;187	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	F	187;151;145;145	ENSP00000226951:L187F;ENSP00000390744:L145F;ENSP00000427208:L145F	ENSP00000226951:L187F	L	-	3	2	CLNK	10151257	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.007000	0.13174	-0.040000	0.13580	-0.168000	0.13345	TTA		0.547	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		A	10542159	T	A	10542159	3	1	365	1	0	0	0	0	1	0	0	0	3547	1403	49	5	761	5	CLNK	4	10542159	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09		10542159	180612117	27	20071											
CCDC149	91050	genome.wustl.edu	37	4	24833258	24833258	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:24833258A>T	ENST00000389609.4	-	10	978	c.835T>A	c.(835-837)Tct>Act	p.S279T	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Missense_Mutation_p.S279T|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	224										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TGATCCTCAGATAGCAGATCC	0.438																																																0			4											97	90	92					4																	24833258		2203	4300	6503	24442356	SO:0001583	missense	91050				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.835T>A	4.37:g.24833258A>T	ENSP00000374260:p.Ser279Thr		24442356	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	ENST00000389609.4	37	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012363	0.75046	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116;ENST00000503881	.	.	.	5.65	5.65	0.86999	.	0.125122	0.64402	D	0.000017	T	0.68686	0.3028	L	0.53249	1.67	0.80722	D	1	D;D	0.63046	0.992;0.991	P;P	0.60286	0.872;0.857	T	0.67554	-0.5641	9	0.39692	T	0.17	-8.9329	16.1778	0.81874	1.0:0.0:0.0:0.0	.	224;279	Q6ZUS6;G5EA04	CC149_HUMAN;.	T	279;279;203;224	.	ENSP00000371550:S203T	S	-	1	0	CCDC149	24442356	0.999000	0.42202	0.618000	0.29105	0.936000	0.57629	4.256000	0.58810	2.279000	0.76181	0.533000	0.62120	TCT		0.438	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		T	24833258	A	T	24833258	3	4	365	1	0	0	0	0	1	0	0	0	2783	333	12	5	774	5	CCDC149	4	24833258	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09	14291099	24833258	166321018	28	20072											
ATP8A1	10396	genome.wustl.edu	37	4	42576692	42576692	+	Silent	SNP	A	A	C	rs149132912	byFrequency	TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:42576692A>C	ENST00000381668.5	-	14	1470	c.1239T>G	c.(1237-1239)acT>acG	p.T413T	ATP8A1_ENST00000264449.10_Silent_p.T413T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	413					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGCATGTCAGAGTACCAGTTT	0.313																																																0			4											56	57	56					4																	42576692		2203	4299	6502	42271449	SO:0001819	synonymous_variant	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1239T>G	4.37:g.42576692A>C			42271449	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																				0.313	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		C	42576692	A	C	42576692	2	2	365	1	0	0	0	0	0	0	0	1	1192	291	11	5		5	ATP8A1	4	42576692	Silent	SNP	A	TCGA-30-1855-01A-01W-0639-09	17743434	42576692	148577584	29	20073											
KIAA1211	57482	genome.wustl.edu	37	4	57193865	57193865	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:57193865G>A	ENST00000504228.1	+	9	3702	c.3597G>A	c.(3595-3597)agG>agA	p.R1199R	KIAA1211_ENST00000264229.6_Silent_p.R1199R|KIAA1211_ENST00000541073.1_Silent_p.R1192R			Q6ZU35	K1211_HUMAN	KIAA1211	1199										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCACCAAGAGGTTTTCCACCC	0.517																																																0			4											108	112	111					4																	57193865		1833	4082	5915	56888622	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3597G>A	4.37:g.57193865G>A			56888622	Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	CCDS43230.1																																																																																				0.517	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57193865	G	A	57193865	2	1	365	1	0	0	0	0	0	0	0	1	8215	1252	44	2		2	KIAA1211	4	57193865	Silent	SNP	G	TCGA-30-1855-01A-01W-0639-09	14617173	57193865	133960411	30	20074											
PAPSS1	9061	genome.wustl.edu	37	4	108608329	108608329	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:108608329C>T	ENST00000265174.4	-	4	688	c.416G>A	c.(415-417)cGc>cAc	p.R139H	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	139					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TGCATTGTTGCGATCCttaaa	0.323																																																0			4											64	66	65					4																	108608329		2203	4300	6503	108827778	SO:0001583	missense	9061			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.416G>A	4.37:g.108608329C>T	ENSP00000265174:p.Arg139His		108827778	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681409	0.88542	.	.	ENSG00000138801	ENST00000265174	D	0.86432	-2.12	5.22	4.38	0.52667	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96884	0.9648	10	0.87932	D	0	-8.6427	13.7445	0.62868	0.0:0.9253:0.0:0.0747	.	139	O43252	PAPS1_HUMAN	H	139	ENSP00000265174:R139H	ENSP00000265174:R139H	R	-	2	0	PAPSS1	108827778	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.225000	0.78051	1.203000	0.43233	0.555000	0.69702	CGC		0.323	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			T	108608329	C	T	108608329	3	4	365	1	0	0	0	0	1	0	0	0	11434	768	27	1	1494	1	PAPSS1	4	108608329	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	51414464	108608329	82545947	31	20075											
GRIA2	2891	genome.wustl.edu	37	4	158256997	158256997	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:158256997T>G	ENST00000264426.9	+	10	1720	c.1441T>G	c.(1441-1443)Tgg>Ggg	p.W481G	GRIA2_ENST00000507898.1_Missense_Mutation_p.W434G|GRIA2_ENST00000449365.1_Missense_Mutation_p.W434G|GRIA2_ENST00000296526.7_Missense_Mutation_p.W481G|GRIA2_ENST00000393815.2_Missense_Mutation_p.W434G	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	481					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CACGAAAATTTGGAATGGGAT	0.428																																																0			4											183	164	171					4																	158256997		2203	4300	6503	158476447	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1441T>G	4.37:g.158256997T>G	ENSP00000264426:p.Trp481Gly		158476447	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762546	0.69763	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.86	5.86	0.93980	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.96367	0.8815	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.994	D;D;D	0.91635	0.955;0.999;0.988	D	0.97988	1.0353	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	481;481;434	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	G	434;434;481;481;434	ENSP00000426845:W434G;ENSP00000377403:W434G;ENSP00000296526:W481G;ENSP00000264426:W481G;ENSP00000389837:W434G	ENSP00000264426:W481G	W	+	1	0	GRIA2	158476447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	TGG		0.428	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			G	158256997	T	G	158256997	3	3	365	1	0	0	0	0	1	0	0	0	6768	1812	63	5	1479	5	GRIA2	4	158256997	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	49648668	158256997	32897279	32	20076											
TLL1	7092	genome.wustl.edu	37	4	166935709	166935709	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:166935709C>G	ENST00000061240.2	+	8	1686	c.1039C>G	c.(1039-1041)Cca>Gca	p.P347A	TLL1_ENST00000513213.1_Missense_Mutation_p.P347A|TLL1_ENST00000507499.1_Missense_Mutation_p.P347A	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	347	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTATAGATGTCCAGGTATTGC	0.453																																																0			4											193	162	173					4																	166935709		2203	4300	6503	167155159	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1039C>G	4.37:g.166935709C>G	ENSP00000061240:p.Pro347Ala		167155159	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648617	0.47258	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.62364	0.03;0.03;0.03	5.17	5.17	0.71159	CUB (1);Peptidase M12A, astacin (1);	0.000000	0.85682	U	0.000000	T	0.52677	0.1749	L	0.41356	1.27	0.80722	D	1	B;B	0.22211	0.066;0.025	B;B	0.22880	0.042;0.014	T	0.47394	-0.9121	10	0.22109	T	0.4	.	14.3962	0.67013	0.1484:0.8515:0.0:0.0	.	347;347	E9PD25;O43897	.;TLL1_HUMAN	A	347	ENSP00000061240:P347A;ENSP00000426082:P347A;ENSP00000422937:P347A	ENSP00000061240:P347A	P	+	1	0	TLL1	167155159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.904000	0.56325	2.387000	0.81309	0.557000	0.71058	CCA		0.453	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			G	166935709	C	G	166935709	3	3	365	1	0	0	0	0	1	0	0	0	15945	855	30	3	1069	3	TLL1	4	166935709	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	8678712	166935709	24218567	33	20077											
CDH18	1016	genome.wustl.edu	37	5	19473438	19473438	+	Missense_Mutation	SNP	G	G	A	rs201996992		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:19473438G>A	ENST00000507958.1	-	15	3260	c.2270C>T	c.(2269-2271)aCg>aTg	p.T757M	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.T757M|CDH18_ENST00000382275.1_Missense_Mutation_p.T757M			Q13634	CAD18_HUMAN	cadherin 18, type 2	757					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGATTGTGTCGTTGCTGAATC	0.463													G|||	1	0.000199681	0	0	5008	,	,		18338	0		0.001	False		,,,				2504	0															0			5											100	102	101					5																	19473438		2203	4300	6503	19509195	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2270C>T	5.37:g.19473438G>A	ENSP00000425093:p.Thr757Met		19509195	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.10	3.028294	0.54790	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.78924	-1.22;-1.22;-1.22	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.86481	0.5943	M	0.75150	2.29	0.09310	N	0.999999	D	0.62365	0.991	P	0.62382	0.901	T	0.79831	-0.1637	8	.	.	.	.	14.6665	0.68913	0.0:0.1451:0.8549:0.0	.	757	Q13634	CAD18_HUMAN	M	757	ENSP00000371710:T757M;ENSP00000425093:T757M;ENSP00000274170:T757M	.	T	-	2	0	CDH18	19509195	0.982000	0.34865	0.137000	0.22149	0.978000	0.69477	4.061000	0.57485	2.861000	0.98227	0.650000	0.86243	ACG		0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19473438	G	A	19473438	3	1	365	1	0	0	0	0	1	0	0	0	3103	1145	40	1	106	1	CDH18	5	19473438	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09		19473438	161441822	34	20078											
PIK3R1	5295	genome.wustl.edu	37	5	67593405	67593405	+	Silent	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:67593405A>C	ENST00000521381.1	+	16	2767	c.2151A>C	c.(2149-2151)ccA>ccC	p.P717P	PIK3R1_ENST00000396611.1_Silent_p.P725P|PIK3R1_ENST00000523872.1_Silent_p.P354P|PIK3R1_ENST00000320694.8_Silent_p.P417P|PIK3R1_ENST00000521657.1_Silent_p.P717P|PIK3R1_ENST00000336483.5_Silent_p.P447P|PIK3R1_ENST00000274335.5_Silent_p.P717P	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	717	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TAGCCTACCCAGTATATGCAC	0.507			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)	5											238	233	235					5																	67593405		2203	4300	6503	67629161	SO:0001819	synonymous_variant	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.2151A>C	5.37:g.67593405A>C			67629161	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	ENST00000521381.1	37	CCDS3993.1																																																																																				0.507	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		C	67593405	A	C	67593405	2	2	365	1	0	0	0	0	0	0	0	1	11918	175	7	5		5	PIK3R1	5	67593405	Silent	SNP	A	TCGA-30-1855-01A-01W-0639-09	48119967	67593405	113321855	35	20079											
APC	324	genome.wustl.edu	37	5	112174075	112174075	+	Silent	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:112174075C>G	ENST00000457016.1	+	16	3164	c.2784C>G	c.(2782-2784)gcC>gcG	p.A928A	APC_ENST00000508376.2_Silent_p.A928A|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.A928A			P25054	APC_HUMAN	adenomatous polyposis coli	928	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCTCTGCTGCCCATACACATT	0.388		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)	5											72	73	73					5																	112174075		2202	4300	6502	112201974	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2784C>G	5.37:g.112174075C>G			112201974	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112174075	C	G	112174075	2	3	365	1	0	0	0	0	0	0	0	1	763	610	22	3		3	APC	5	112174075	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	44580670	112174075	68741185	36	20080											
PCDHB4	56131	genome.wustl.edu	37	5	140502964	140502977	+	Frame_Shift_Del	DEL	AACAACAGCCCCGC	AACAACAGCCCCGC	-			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	AACAACAGCCCCGC	AACAACAGCCCCGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:140502964_140502977delAACAACAGCCCCGC	ENST00000194152.1	+	1	1384_1397	c.1384_1397delAACAACAGCCCCGC	c.(1384-1398)aacaacagccccgccfs	p.NNSPA462fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTCCGCGAGAACAACAGCCCCGCCCTGCACATC	0.64																																																0			5																																								140483161	SO:0001589	frameshift_variant	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1384_1397delAACAACAGCCCCGC	5.37:g.140502964_140502977delAACAACAGCCCCGC	ENSP00000194152:p.Asn462fs		140483148	Q4V761	Frame_Shift_Del	DEL	ENST00000194152.1	37	CCDS4246.1																																																																																				0.64	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		-	140502977	AACAACAGCCCCGC	-	140502964	7	5	365	1	0	1	0	1	0	0	0	0	11544	246	9	0	1386	0	PCDHB4	5	140502964	Frame_Shift_Del	DEL	AACAACAGCCCCGC	TCGA-30-1855-01A-01W-0639-09	28328889	140502964	40412296	37	20081											
PCDHB13	56123	genome.wustl.edu	37	5	140595573	140595573	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:140595573C>T	ENST00000341948.4	+	1	2065	c.1878C>T	c.(1876-1878)acC>acT	p.T626T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCGCACCGCCAGGCTGC	0.701																																																0			5											18	19	19					5																	140595573		1701	3570	5271	140575757	SO:0001819	synonymous_variant	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1878C>T	5.37:g.140595573C>T			140575757	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																				0.701	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140595573	C	T	140595573	2	4	365	1	0	0	0	0	0	0	0	1	11538	639	23	1		1	PCDHB13	5	140595573	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	92609	140595573	40319687	38	20082											
DIAPH1	1729	genome.wustl.edu	37	5	140956439	140956439	+	Splice_Site	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:140956439C>G	ENST00000398557.4	-	13	1421		c.e13-1		DIAPH1_ENST00000389054.3_Splice_Site|DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000398566.3_Splice_Site|DIAPH1_ENST00000253811.6_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1						actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTGAGGTCTACAAGAGAA	0.398																																																0			5											66	60	62					5																	140956439		1845	4084	5929	140936623	SO:0001630	splice_region_variant	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1281-1G>C	5.37:g.140956439C>G			140936623	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490685	0.64074	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	.	.	.	5.96	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9638	0.64196	0.0:0.9263:0.0:0.0737	.	.	.	.	.	-1	.	.	.	-	.	.	DIAPH1	140936623	1.000000	0.71417	0.998000	0.56505	0.728000	0.41692	7.345000	0.79337	1.527000	0.49086	0.655000	0.94253	.		0.398	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	Intron	G	140956439	C	G	140956439	5	3	365	1	0	0	0	0	0	0	1	0	4518	927	32	3	2602	3	DIAPH1	5	140956439	Splice_Site	SNP	C	TCGA-30-1855-01A-01W-0639-09	360866	140956439	39958821	39	20083											
SLC36A2	153201	genome.wustl.edu	37	5	150715076	150715076	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:150715076G>A	ENST00000335244.4	-	6	687	c.558C>T	c.(556-558)aaC>aaT	p.N186N	SLC36A2_ENST00000521967.1_Silent_p.N186N	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	186					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TGGAATAGCAGTTGTTGGTTG	0.522																																																0			5											223	208	213					5																	150715076		2203	4300	6503	150695269	SO:0001819	synonymous_variant	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.558C>T	5.37:g.150715076G>A			150695269	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	CCDS4315.1																																																																																				0.522	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			A	150715076	G	A	150715076	2	1	365	1	0	0	0	0	0	0	0	1	14597	1020	36	2		2	SLC36A2	5	150715076	Silent	SNP	G	TCGA-30-1855-01A-01W-0639-09	9758637	150715076	30200184	40	20084											
CUL9	23113	genome.wustl.edu	37	6	43167739	43167739	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr6:43167739T>G	ENST00000252050.4	+	14	3313	c.3229T>G	c.(3229-3231)Tgc>Ggc	p.C1077G	CUL9_ENST00000372647.2_Missense_Mutation_p.C1077G|CUL9_ENST00000354495.3_Missense_Mutation_p.C967G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1077					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTGCTCTGCTGCCTGGGAGC	0.537																																																0			6											128	101	110					6																	43167739		2203	4300	6503	43275717	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3229T>G	6.37:g.43167739T>G	ENSP00000252050:p.Cys1077Gly		43275717	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.017089	0.54576	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72394	-0.65;-0.65;-0.55	5.37	4.24	0.50183	Armadillo-like helical (1);Armadillo-type fold (1);	0.155174	0.64402	D	0.000016	T	0.41696	0.1170	N	0.22421	0.69	0.41106	D	0.985706	P;B;B	0.38455	0.632;0.258;0.258	B;B;B	0.43728	0.429;0.119;0.119	T	0.54029	-0.8354	10	0.46703	T	0.11	-14.4568	1.6346	0.02740	0.2705:0.2402:0.0:0.4893	.	967;1077;1077	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	G	1077;967;1077	ENSP00000252050:C1077G;ENSP00000346490:C967G;ENSP00000361730:C1077G	ENSP00000252050:C1077G	C	+	1	0	CUL9	43275717	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.169000	0.50809	2.036000	0.60181	0.533000	0.62120	TGC		0.537	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		G	43167739	T	G	43167739	3	3	365	1	0	0	0	0	1	0	0	0	4061	1580	55	5	3279	5	CUL9	6	43167739	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09		43167739	127947328	41	20085											
GJA10	84694	genome.wustl.edu	37	6	90604421	90604421	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr6:90604421G>C	ENST00000369352.1	+	1	234	c.234G>C	c.(232-234)tgG>tgC	p.W78C		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	78					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCAGGTTCTGGGTTTTACAGA	0.453																																																0			6											150	119	130					6																	90604421		2203	4300	6503	90661142	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.234G>C	6.37:g.90604421G>C	ENSP00000358358:p.Trp78Cys		90661142	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225906	0.58668	.	.	ENSG00000135355	ENST00000369352	D	0.99545	-6.13	4.8	3.93	0.45458	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97567	1.0102	10	0.87932	D	0	.	13.0887	0.59156	0.0774:0.0:0.9226:0.0	.	78	Q969M2	CXA10_HUMAN	C	78	ENSP00000358358:W78C	ENSP00000358358:W78C	W	+	3	0	GJA10	90661142	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.621000	0.83083	1.265000	0.44215	0.563000	0.77884	TGG		0.453	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		C	90604421	G	C	90604421	3	2	365	1	0	0	0	0	1	0	0	0	6401	1241	43	3	236	3	GJA10	6	90604421	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	47436682	90604421	80510646	42	20086											
TULP4	56995	genome.wustl.edu	37	6	158900800	158900800	+	Silent	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr6:158900800C>A	ENST00000367097.3	+	7	2401	c.1044C>A	c.(1042-1044)atC>atA	p.I348I	TULP4_ENST00000367094.2_Silent_p.I348I	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	348					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCATCTCCATCTGCTGGGGTC	0.572																																																0			6											62	56	58					6																	158900800		2203	4300	6503	158820788	SO:0001819	synonymous_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1044C>A	6.37:g.158900800C>A			158820788	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	CCDS34561.1																																																																																				0.572	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		A	158900800	C	A	158900800	2	1	365	1	0	0	0	0	0	0	0	1	16776	903	32	3		3	TULP4	6	158900800	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	68296379	158900800	12214267	43	20087											
PON3	5446	genome.wustl.edu	37	7	94989303	94989303	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr7:94989303A>G	ENST00000265627.5	-	9	1057	c.1047T>C	c.(1045-1047)acT>acC	p.T349T	PON3_ENST00000427422.1_3'UTR|PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_3'UTR	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	349					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CACAGTACAGAGTTTTGTGAA	0.383																																																0			7											71	70	70					7																	94989303		2203	4299	6502	94827239	SO:0001819	synonymous_variant	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.1047T>C	7.37:g.94989303A>G			94827239	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	CCDS5639.1																																																																																				0.383	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		G	94989303	A	G	94989303	2	3	365	1	0	0	0	0	0	0	0	1	12250	291	11	4		4	PON3	7	94989303	Silent	SNP	A	TCGA-30-1855-01A-01W-0639-09		94989303	64149360	44	20088											
DYNC1I1	1780	genome.wustl.edu	37	7	95726831	95726831	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr7:95726831G>T	ENST00000324972.6	+	17	2057	c.1864G>T	c.(1864-1866)Gcc>Tcc	p.A622S	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.A602S|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.A605S|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.A605S|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.A585S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	622					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GACCCGATTTGCCAGGACCCT	0.478																																																0			7											140	129	133					7																	95726831		2203	4300	6503	95564767	SO:0001583	missense	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1864G>T	7.37:g.95726831G>T	ENSP00000320130:p.Ala622Ser		95564767	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297680	0.40694	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T	0.71461	-0.57;-0.57;-0.56;-0.56;-0.57	5.32	5.32	0.75619	.	0.052573	0.85682	D	0.000000	T	0.53981	0.1830	N	0.11064	0.09	0.80722	D	1	B;B;B;B;B	0.17852	0.01;0.018;0.018;0.024;0.002	B;B;B;B;B	0.21708	0.011;0.036;0.025;0.016;0.015	T	0.49214	-0.8963	10	0.12430	T	0.62	-2.726	19.5787	0.95455	0.0:0.0:1.0:0.0	.	605;602;605;622;585	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	S	605;622;602;585;605	ENSP00000392337:A605S;ENSP00000320130:A622S;ENSP00000398118:A602S;ENSP00000352348:A585S;ENSP00000412444:A605S	ENSP00000320130:A622S	A	+	1	0	DYNC1I1	95564767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.822000	0.86651	2.941000	0.99782	0.655000	0.94253	GCC		0.478	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		T	95726831	G	T	95726831	3	4	365	1	0	0	0	0	1	0	0	0	4842	1319	46	3	1926	3	DYNC1I1	7	95726831	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	737528	95726831	63411832	45	20089											
DOCK4	9732	genome.wustl.edu	37	7	111575679	111575679	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr7:111575679T>C	ENST00000437633.1	-	12	1238	c.982A>G	c.(982-984)Aac>Gac	p.N328D	DOCK4_ENST00000428084.1_Missense_Mutation_p.N328D|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	328					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTCTCTGTGTTACACCTATGA	0.408																																																0			7											224	219	220					7																	111575679		2046	4209	6255	111362915	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.982A>G	7.37:g.111575679T>C	ENSP00000404179:p.Asn328Asp		111362915	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.448272	0.63178	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03124	4.04;4.04	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.04998	0.0134	L	0.40543	1.245	0.80722	D	1	B;B;B	0.25850	0.073;0.136;0.087	B;B;B	0.28991	0.04;0.097;0.06	T	0.48822	-0.9001	10	0.15952	T	0.53	.	16.1115	0.81266	0.0:0.0:0.0:1.0	.	328;328;328	A4D0S8;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	D	316;328;328;316;327	ENSP00000410746:N328D;ENSP00000404179:N328D	ENSP00000345432:N316D	N	-	1	0	DOCK4	111362915	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.604000	0.82830	2.207000	0.71202	0.460000	0.39030	AAC		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		C	111575679	T	C	111575679	3	2	365	1	0	0	0	0	1	0	0	0	4689	1754	61	4	5082	4	DOCK4	7	111575679	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	15848848	111575679	47562984	46	20090											
SND1	27044	genome.wustl.edu	37	7	127347632	127347632	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr7:127347632G>A	ENST00000354725.3	+	9	1163	c.969G>A	c.(967-969)ctG>ctA	p.L323L		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	323	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGCGCAGGCTGAGAATATGGA	0.473																																																0			7											128	114	119					7																	127347632		2203	4300	6503	127134868	SO:0001819	synonymous_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.969G>A	7.37:g.127347632G>A			127134868	Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	CCDS34747.1																																																																																				0.473	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		A	127347632	G	A	127347632	2	1	365	1	0	0	0	0	0	0	0	1	14847	1277	45	2		2	SND1	7	127347632	Silent	SNP	G	TCGA-30-1855-01A-01W-0639-09	15771953	127347632	31791031	47	20091											
UNC5D	137970	genome.wustl.edu	37	8	35606197	35606197	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:35606197A>G	ENST00000404895.2	+	12	2247	c.1919A>G	c.(1918-1920)cAg>cGg	p.Q640R	UNC5D_ENST00000287272.2_Missense_Mutation_p.Q571R|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q635R|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q573R|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q645R|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q216R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	640	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGAGGACACAGCAGGGCAAA	0.448																																																0			8											128	118	121					8																	35606197		2203	4300	6503	35725739	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1919A>G	8.37:g.35606197A>G	ENSP00000385143:p.Gln640Arg		35725739	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474540	0.43942	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.88	4.71	0.59529	ZU5 (2);	0.099188	0.64402	D	0.000001	T	0.42040	0.1185	L	0.59436	1.845	0.40087	D	0.976201	P;B;P	0.35793	0.521;0.328;0.521	B;B;B	0.40825	0.341;0.23;0.341	T	0.20874	-1.0262	10	0.12430	T	0.62	-10.6358	13.2767	0.60191	0.8676:0.1323:0.0:0.0	.	216;635;640	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	R	640;573;571;645;635;216	ENSP00000385143:Q640R;ENSP00000392739:Q573R;ENSP00000287272:Q571R;ENSP00000412652:Q645R;ENSP00000394303:Q635R;ENSP00000397211:Q216R	ENSP00000287272:Q571R	Q	+	2	0	UNC5D	35725739	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	4.809000	0.62591	1.027000	0.39758	0.533000	0.62120	CAG		0.448	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			G	35606197	A	G	35606197	3	3	365	1	0	0	0	0	1	0	0	0	16995	188	7	4	1965	4	UNC5D	8	35606197	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09		35606197	110757825	48	20092											
CPA6	57094	genome.wustl.edu	37	8	68419060	68419060	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:68419060A>T	ENST00000297770.4	-	6	813	c.598T>A	c.(598-600)Tgg>Agg	p.W200R	CPA6_ENST00000518549.1_Missense_Mutation_p.W200R|CPA6_ENST00000297769.4_Missense_Mutation_p.W52R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	200						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGACCAATCCATTCTCTTGCA	0.418																																																0			8											173	149	157					8																	68419060		2203	4300	6503	68581614	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.598T>A	8.37:g.68419060A>T	ENSP00000297770:p.Trp200Arg		68581614	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226390	0.79576	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.13657	2.57;2.57;2.57	5.31	5.31	0.75309	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	H	0.98388	4.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.73780	-0.3875	10	0.87932	D	0	.	14.2483	0.66001	1.0:0.0:0.0:0.0	.	200;52;200	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	R	52;200;200	ENSP00000297769:W52R;ENSP00000297770:W200R;ENSP00000431112:W200R	ENSP00000297769:W52R	W	-	1	0	CPA6	68581614	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.929000	0.87595	2.003000	0.58678	0.533000	0.62120	TGG		0.418	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		T	68419060	A	T	68419060	3	4	365	1	0	0	0	0	1	0	0	0	3794	217	8	5	739	5	CPA6	8	68419060	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09	32812863	68419060	77944962	49	20093											
ZFHX4	79776	genome.wustl.edu	37	8	77765594	77765594	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:77765594C>A	ENST00000521891.2	+	10	6885	c.6437C>A	c.(6436-6438)gCt>gAt	p.A2146D	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2101D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2120D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2101D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCCTGAGGGCTTATTTTGAC	0.408										HNSCC(33;0.089)																																						0			8											44	44	44					8																	77765594		1851	4080	5931	77928149	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6437C>A	8.37:g.77765594C>A	ENSP00000430497:p.Ala2146Asp		77928149	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267599	0.59540	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	3.92	3.92	0.45320	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.44097	U	0.000482	D	0.95443	0.8520	L	0.33485	1.01	0.80722	D	1	P;D;P	0.53619	0.918;0.961;0.9	P;P;P	0.56700	0.66;0.804;0.529	D	0.94079	0.7342	10	0.26408	T	0.33	.	16.0604	0.80836	0.0:1.0:0.0:0.0	.	2101;2101;2146	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	2146;2130;2101;2101;2120	ENSP00000430497:A2146D;ENSP00000399605:A2101D;ENSP00000050961:A2101D;ENSP00000430848:A2120D	ENSP00000050961:A2101D	A	+	2	0	ZFHX4	77928149	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.827000	0.69300	2.200000	0.70718	0.455000	0.32223	GCT		0.408	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77765594	C	A	77765594	3	1	365	1	0	0	0	0	1	0	0	0	17635	797	28	3	6471	3	ZFHX4	8	77765594	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	9346534	77765594	68598428	50	20094											
FAM135B	51059	genome.wustl.edu	37	8	139163858	139163858	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:139163858G>T	ENST00000395297.1	-	13	3030	c.2860C>A	c.(2860-2862)Caa>Aaa	p.Q954K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	954										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTGGCTTTGCTGGCCTGTT	0.507										HNSCC(54;0.14)																																						0			8											157	126	136					8																	139163858		2203	4300	6503	139233040	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2860C>A	8.37:g.139163858G>T	ENSP00000378710:p.Gln954Lys		139233040	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	1.693	-0.503631	0.04261	.	.	ENSG00000147724	ENST00000395297	T	0.12465	2.68	4.69	0.418	0.16429	.	1.657730	0.03521	N	0.220948	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.28839	-1.0031	10	0.05620	T	0.96	.	1.8832	0.03232	0.1039:0.2567:0.3271:0.3123	.	954;954;954	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	K	954	ENSP00000378710:Q954K	ENSP00000276737:Q954K	Q	-	1	0	FAM135B	139233040	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.042000	0.12063	0.404000	0.25506	-0.182000	0.12963	CAA		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139163858	G	T	139163858	3	4	365	1	0	0	0	0	1	0	0	0	5449	1328	46	3	1392	3	FAM135B	8	139163858	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	61398264	139163858	7200164	51	20095											
COL22A1	169044	genome.wustl.edu	37	8	139609147	139609147	+	Splice_Site	SNP	T	T	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:139609147T>A	ENST00000303045.6	-	62	4878	c.4432A>T	c.(4432-4434)Acc>Tcc	p.T1478S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.T1458S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1478	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGATACTCACTTTCAAGCTGC	0.502										HNSCC(7;0.00092)																																						0			8											184	184	184					8																	139609147		2203	4300	6503	139678329	SO:0001630	splice_region_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4432+1A>T	8.37:g.139609147T>A			139678329	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251804	0.22880	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.88586	-2.4;-2.29	5.06	0.152	0.14893	.	0.183336	0.29376	U	0.012332	D	0.84014	0.5379	L	0.44542	1.39	0.22684	N	0.998853	P;B	0.34662	0.462;0.02	B;B	0.41374	0.355;0.016	T	0.73248	-0.4043	9	.	.	.	.	8.6981	0.34310	0.0:0.4692:0.0:0.5308	.	1458;1478	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1478;1458;1171	ENSP00000303153:T1478S;ENSP00000387655:T1458S	.	T	-	1	0	COL22A1	139678329	1.000000	0.71417	0.991000	0.47740	0.779000	0.44077	0.867000	0.27968	0.012000	0.14892	0.460000	0.39030	ACC		0.502	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	A	139609147	T	A	139609147	5	1	365	1	0	0	0	0	0	0	1	0	3681	1623	56	5	464	5	COL22A1	8	139609147	Splice_Site	SNP	T	TCGA-30-1855-01A-01W-0639-09	445289	139609147	6754875	52	20096											
DENND3	22898	genome.wustl.edu	37	8	142186755	142186755	+	Silent	SNP	G	G	A	rs570647400		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:142186755G>A	ENST00000262585.2	+	15	2639	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	DENND3_ENST00000424248.1_Silent_p.A735A|DENND3_ENST00000519811.1_Silent_p.A867A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	787					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGAGTGGCGTCCAAGAAAG	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		20351	0		0	False		,,,				2504	0															0			8											106	98	101					8																	142186755		2203	4300	6503	142255937	SO:0001819	synonymous_variant	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2361G>A	8.37:g.142186755G>A			142255937	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	3.888	-0.024549	0.07589	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.23	-0.288	0.12855	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.21930	-1.0231	4	.	.	.	-19.3008	0.7227	0.00943	0.4156:0.1541:0.2497:0.1806	.	.	.	.	I	792	.	.	V	+	1	0	DENND3	142255937	0.000000	0.05858	0.138000	0.22173	0.527000	0.34593	-0.515000	0.06290	0.203000	0.20529	-0.143000	0.13931	GTC		0.483	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		A	142186755	G	A	142186755	2	1	365	1	0	0	0	0	0	0	0	1	4432	1132	40	1		1	DENND3	8	142186755	Silent	SNP	G	TCGA-30-1855-01A-01W-0639-09	2577608	142186755	4177267	53	20097											
MCART1	92014	genome.wustl.edu	37	9	37888029	37888029	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr9:37888029A>G	ENST00000377716.2	-	3	1262	c.519T>C	c.(517-519)taT>taC	p.Y173Y	RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Silent_p.Y173Y|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Silent_p.Y173Y			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	173					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CCAAGCCTCGATAATACTCTC	0.463																																																0			9											117	113	114					9																	37888029		2203	4298	6501	37878029	SO:0001819	synonymous_variant	92014			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"Solute carriers"	23323	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 1"	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.519T>C	9.37:g.37888029A>G			37878029		Silent	SNP	ENST00000377716.2	37	CCDS6614.1																																																																																				0.463	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		G	37888029	A	G	37888029	2	3	365	1	0	0	0	0	0	0	0	1	9369	340	12	4		4	MCART1	9	37888029	Silent	SNP	A	TCGA-30-1855-01A-01W-0639-09		37888029	103325402	54	20098											
FLJ46321	389763	genome.wustl.edu	37	9	84605812	84605812	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr9:84605812C>T	ENST00000344803.2	+	4	474	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	143					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TATCCAGCAACTGCTGTCTTG	0.557																																																0			9											129	124	126					9																	84605812		1994	4163	6157	83795632	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.427C>T	9.37:g.84605812C>T			83795632		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.557	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84605812	C	T	84605812	2	4	365	1	0	0	0	0	0	0	0	1	5932	564	20	2		2	FLJ46321	9	84605812	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	46717783	84605812	56607619	55	20099											
LPAR1	1902	genome.wustl.edu	37	9	113637852	113637852	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr9:113637852T>C	ENST00000374431.3	-	5	1327	c.944A>G	c.(943-945)gAc>gGc	p.D315G	LPAR1_ENST00000358883.4_Missense_Mutation_p.D315G|LPAR1_ENST00000541779.1_Missense_Mutation_p.D316G|LPAR1_ENST00000538760.1_Missense_Mutation_p.D316G|LPAR1_ENST00000374430.2_Missense_Mutation_p.D315G	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	315					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CATTTCTTTGTCGCGGTAGGA	0.562																																					NSCLC(115;661 2323 9836 34256)											0			9											172	169	170					9																	113637852		2203	4300	6503	112677673	SO:0001583	missense	1902			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.944A>G	9.37:g.113637852T>C	ENSP00000363553:p.Asp315Gly		112677673	B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562251	0.86335	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51276	-0.8726	10	0.72032	D	0.01	.	15.7905	0.78357	0.0:0.0:0.0:1.0	.	316;316;315	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	G	315;316;315;315;297;316	ENSP00000363553:D315G;ENSP00000445697:D316G;ENSP00000363552:D315G;ENSP00000351755:D315G;ENSP00000440201:D316G	ENSP00000351755:D315G	D	-	2	0	LPAR1	112677673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.012000	0.88631	2.324000	0.78689	0.533000	0.62120	GAC		0.562	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		C	113637852	T	C	113637852	3	2	365	1	0	0	0	0	1	0	0	0	8904	1667	58	4	154	4	LPAR1	9	113637852	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	29032040	113637852	27575579	56	20100											
LRRC8A	56262	genome.wustl.edu	37	9	131670180	131670180	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr9:131670180A>C	ENST00000259324.5	+	3	1260	c.737A>C	c.(736-738)aAg>aCg	p.K246T	LRRC8A_ENST00000372600.4_Missense_Mutation_p.K246T|LRRC8A_ENST00000372599.3_Missense_Mutation_p.K246T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	246					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTGTTTGAGAAGGTGAAGAAG	0.572																																																0			9											156	145	149					9																	131670180		2203	4300	6503	130710001	SO:0001583	missense	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.737A>C	9.37:g.131670180A>C	ENSP00000259324:p.Lys246Thr		130710001	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.920648	0.33908	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.39229	1.09;1.09;1.09	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	M	0.75615	2.305	0.58432	D	0.999999	D	0.76494	0.999	D	0.65010	0.931	T	0.67791	-0.5579	10	0.87932	D	0	.	14.2958	0.66311	1.0:0.0:0.0:0.0	.	246	Q8IWT6	LRC8A_HUMAN	T	246	ENSP00000361682:K246T;ENSP00000361680:K246T;ENSP00000259324:K246T	ENSP00000259324:K246T	K	+	2	0	LRRC8A	130710001	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.339000	0.96797	1.971000	0.57363	0.460000	0.39030	AAG		0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		C	131670180	A	C	131670180	3	2	365	1	0	0	0	0	1	0	0	0	9021	72	3	5	739	5	LRRC8A	9	131670180	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09	18032328	131670180	9543251	57	20101											
FAM21A	387680	genome.wustl.edu	37	10	51892657	51892657	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr10:51892657G>A	ENST00000282633.5	+	31	4023	c.3978G>A	c.(3976-3978)aaG>aaA	p.K1326K	FAM21A_ENST00000351071.6_Silent_p.K1305K|FAM21A_ENST00000314664.7_Silent_p.K1264K|FAM21A_ENST00000399339.2_Silent_p.K1238K	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1326					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						TTGAACACAAGGTGTCCAACA	0.468																																																0			10											22	20	20					10																	51892657		1756	3680	5436	51562663	SO:0001819	synonymous_variant	387680			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.3978G>A	10.37:g.51892657G>A			51562663	A2A3S2|A2A3U6|Q6DHY0	Silent	SNP	ENST00000282633.5	37	CCDS41527.1																																																																																				0.468	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		A	51892657	G	A	51892657	2	1	365	1	0	0	0	0	0	0	0	1	5540	991	35	2		2	FAM21A	10	51892657	Silent	SNP	G	TCGA-30-1855-01A-01W-0639-09		51892657	83642090	58	20102											
INPP5F	22876	genome.wustl.edu	37	10	121556262	121556262	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr10:121556262C>G	ENST00000361976.2	+	7	871	c.705C>G	c.(703-705)atC>atG	p.I235M	INPP5F_ENST00000369083.3_Missense_Mutation_p.I235M	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TCCCCATGATCCAAGGTTTTG	0.423																																																0			10											133	133	133					10																	121556262		2203	4300	6503	121546252	SO:0001583	missense	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.705C>G	10.37:g.121556262C>G	ENSP00000354519:p.Ile235Met		121546252	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359633	0.61403	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.63744	-0.06;-0.06	5.8	3.96	0.45880	Synaptojanin, N-terminal (2);	0.047235	0.85682	D	0.000000	T	0.49881	0.1583	L	0.35854	1.095	0.80722	D	1	P	0.43477	0.808	B	0.43445	0.42	T	0.41251	-0.9519	10	0.33940	T	0.23	-10.4062	5.5122	0.16886	0.1303:0.599:0.0:0.2707	.	235	Q9Y2H2	SAC2_HUMAN	M	235	ENSP00000354519:I235M;ENSP00000358079:I235M	ENSP00000354519:I235M	I	+	3	3	INPP5F	121546252	0.996000	0.38824	1.000000	0.80357	0.989000	0.77384	0.467000	0.22035	0.806000	0.34183	0.655000	0.94253	ATC		0.423	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		G	121556262	C	G	121556262	3	3	365	1	0	0	0	0	1	0	0	0	7758	845	30	3	731	3	INPP5F	10	121556262	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	69663605	121556262	13978485	59	20103											
DENND5A	23258	genome.wustl.edu	37	11	9172234	9172234	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:9172234C>G	ENST00000328194.3	-	14	2919	c.2599G>C	c.(2599-2601)Gat>Cat	p.D867H	DENND5A_ENST00000530044.1_Missense_Mutation_p.D867H|DENND5A_ENST00000527700.1_Missense_Mutation_p.D210H	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	867	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACCTCATATCCTGAATCAGG	0.448																																																0			11											129	117	121					11																	9172234		2201	4296	6497	9128810	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2599G>C	11.37:g.9172234C>G	ENSP00000328524:p.Asp867His		9128810	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.859762|4.859762	0.91433|0.91433	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	5.71|5.71	5.71|5.71	0.89125|0.89125	RUN (2);|.	0.046236|.	0.85682|.	D|.	0.000000|.	D|D	0.83538|0.83538	0.5276|0.5276	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84437|0.84437	0.0580|0.0580	10|5	0.87932|.	D|.	0|.	.|.	19.857|19.857	0.96762|0.96762	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	867;867|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	H|A	867;867;210|37	ENSP00000328524:D867H;ENSP00000435866:D867H;ENSP00000432549:D210H|.	ENSP00000328524:D867H|.	D|G	-|-	1|2	0|0	DENND5A|DENND5A	9128810|9128810	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.763000|7.763000	0.85283|0.85283	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.448	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		G	9172234	C	G	9172234	3	3	365	1	0	0	0	0	1	0	0	0	4436	855	30	3	1304	3	DENND5A	11	9172234	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09		9172234	125834282	60	20104											
NAV2	89797	genome.wustl.edu	37	11	20057533	20057533	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:20057533G>A	ENST00000396087.3	+	13	2965	c.2866G>A	c.(2866-2868)Ggc>Agc	p.G956S	NAV2_ENST00000311043.8_Missense_Mutation_p.G19S|NAV2_ENST00000396085.1_Missense_Mutation_p.G933S|NAV2_ENST00000349880.4_Missense_Mutation_p.G933S|NAV2_ENST00000540292.1_Missense_Mutation_p.G887S|NAV2_ENST00000527559.2_Missense_Mutation_p.G885S|NAV2_ENST00000360655.4_Missense_Mutation_p.G869S|NAV2_ENST00000533917.1_Missense_Mutation_p.G19S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	956					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGTCAGCAGCGGCATCAGCGA	0.542																																																0			11											240	150	180					11																	20057533		2203	4300	6503	20014109	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2866G>A	11.37:g.20057533G>A	ENSP00000379396:p.Gly956Ser		20014109	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902676	0.92035	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.07;-1.05;-1.06;-1.12;-1.12;0.82;-0.66;-0.52;0.82	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000003	D	0.88108	0.6348	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.86432	0.1761	9	.	.	.	.	20.2265	0.98340	0.0:0.0:1.0:0.0	.	19;19;933;869	Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	S	869;933;933;956;885;887;19;19;19;19;19	ENSP00000353871:G869S;ENSP00000379394:G933S;ENSP00000309577:G933S;ENSP00000379396:G956S;ENSP00000435395:G885S;ENSP00000443489:G887S;ENSP00000437316:G19S;ENSP00000437136:G19S;ENSP00000431276:G19S;ENSP00000312169:G19S	.	G	+	1	0	NAV2	20014109	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	9.864000	0.99589	2.769000	0.95229	0.655000	0.94253	GGC		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	20057533	G	A	20057533	3	1	365	1	0	0	0	0	1	0	0	0	10184	1116	39	1	2952	1	NAV2	11	20057533	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	10885299	20057533	114948983	61	20105											
NUP160	23279	genome.wustl.edu	37	11	47814442	47814442	+	Silent	SNP	G	G	T	rs556166169		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:47814442G>T	ENST00000378460.2	-	28	3392	c.3346C>A	c.(3346-3348)Cgg>Agg	p.R1116R	NUP160_ENST00000530326.1_Silent_p.R1002R|NUP160_ENST00000528071.1_Silent_p.R1002R	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1116					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCAAGTCCCCGGAGAGTTCGA	0.438																																																0			11											115	109	111					11																	47814442		2201	4298	6499	47771018	SO:0001819	synonymous_variant	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3346C>A	11.37:g.47814442G>T			47771018	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	CCDS31484.1																																																																																				0.438	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		T	47814442	G	T	47814442	2	4	365	1	0	0	0	0	0	0	0	1	10757	1115	39	3		3	NUP160	11	47814442	Silent	SNP	G	TCGA-30-1855-01A-01W-0639-09	27756909	47814442	87192074	62	20106											
OR4C11	219429	genome.wustl.edu	37	11	55371420	55371420	+	Missense_Mutation	SNP	C	C	A	rs555433759|rs141497167		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:55371420C>A	ENST00000302231.4	-	1	454	c.430G>T	c.(430-432)Gtt>Ttt	p.V144F		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CAGGCAAGAACAATCAGGATG	0.458																																																0			11						C	PHE/VAL	1,4351		0,1,2175	82	69	73		430	-2.7	0	11	dbSNP_134	73	0,8018		0,0,4009	no	missense	OR4C11	NM_001004700.2	50	0,1,6184	AA,AC,CC		0.0,0.023,0.0081	benign	144/311	55371420	1,12369	2176	4009	6185	55127996	SO:0001583	missense	219429			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.430G>T	11.37:g.55371420C>A	ENSP00000306651:p.Val144Phe		55127996	B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.497426	0.01001	2.3E-4	0.0	ENSG00000172188	ENST00000302231	T	0.38722	1.12	4.34	-2.7	0.06004	GPCR, rhodopsin-like superfamily (1);	1.188180	0.06487	U	0.733841	T	0.35970	0.0950	L	0.41356	1.27	0.09310	N	1	P	0.44006	0.824	P	0.46850	0.529	T	0.31752	-0.9932	10	0.10636	T	0.68	.	9.3118	0.37910	0.0:0.2219:0.0:0.7781	.	144	Q6IEV9	OR4CB_HUMAN	F	144	ENSP00000306651:V144F	ENSP00000306651:V144F	V	-	1	0	OR4C11	55127996	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.615000	0.00414	-0.567000	0.06046	-0.362000	0.07510	GTT		0.458	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		A	55371420	C	A	55371420	3	1	365	1	0	0	0	0	1	0	0	0	11045	478	17	3	504	3	OR4C11	11	55371420	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	7556978	55371420	79635096	63	20107											
OR1S2	219958	genome.wustl.edu	37	11	57970764	57970764	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:57970764A>C	ENST00000302592.6	-	1	889	c.890T>G	c.(889-891)aTg>aGg	p.M297R		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GGGGTTCATCATGGGTGTCAC	0.463																																																0			11											158	150	152					11																	57970764		2201	4296	6497	57727340	SO:0001583	missense	219958			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.890T>G	11.37:g.57970764A>C	ENSP00000305469:p.Met297Arg		57727340	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772079	0.49680	.	.	ENSG00000197887	ENST00000302592	T	0.38887	1.11	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.71459	0.3342	H	0.97516	4.02	0.30896	N	0.729798	D	0.69078	0.997	D	0.62955	0.909	T	0.78989	-0.1986	10	0.87932	D	0	.	8.8146	0.34987	0.9108:0.0:0.0892:0.0	.	297	Q8NGQ3	OR1S2_HUMAN	R	297	ENSP00000305469:M297R	ENSP00000305469:M297R	M	-	2	0	OR1S2	57727340	0.029000	0.19370	1.000000	0.80357	0.986000	0.74619	2.562000	0.45914	2.119000	0.64992	0.533000	0.62120	ATG		0.463	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		C	57970764	A	C	57970764	3	2	365	1	0	0	0	0	1	0	0	0	10973	217	8	5	90	5	OR1S2	11	57970764	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09	2599344	57970764	77035752	64	20108											
FGF4	2249	genome.wustl.edu	37	11	69588088	69588088	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:69588088G>T	ENST00000168712.1	-	3	928	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	AP001888.1_ENST00000602104.1_5'Flank|FGF4_ENST00000538040.1_5'Flank	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	204					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	CACAGCCTGGGGAGGAAGTGG	0.607																																																0			11											126	113	117					11																	69588088		2200	4294	6494	69297269	SO:0001583	missense	2249			M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"Endogenous ligands"	3682	protein-coding gene	gene with protein product	"human stomach cancer, transforming factor from FGF-related oncogene", "kaposi sarcoma oncogene", "transforming protein KS3"	164980	"heparin secretory transforming protein 1"	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.610C>A	11.37:g.69588088G>T	ENSP00000168712:p.Pro204Thr		69297269	B7U994	Missense_Mutation	SNP	ENST00000168712.1	37	CCDS8194.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149233	0.94645	.	.	ENSG00000075388	ENST00000168712	D	0.83755	-1.76	5.81	5.81	0.92471	.	0.000000	0.47455	D	0.000232	D	0.92341	0.7570	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.92014	0.5620	9	.	.	.	.	20.074	0.97736	0.0:0.0:1.0:0.0	.	204	P08620	FGF4_HUMAN	T	204	ENSP00000168712:P204T	.	P	-	1	0	FGF4	69297269	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.026000	0.93700	2.746000	0.94184	0.655000	0.94253	CCC		0.607	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396834.2	NM_002007		T	69588088	G	T	69588088	3	4	365	1	0	0	0	0	1	0	0	0	5854	1232	43	3	14	3	FGF4	11	69588088	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	11617324	69588088	65418428	65	20109											
BCL9L	283149	genome.wustl.edu	37	11	118772432	118772432	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:118772432delC	ENST00000334801.3	-	6	2984	c.2020delG	c.(2020-2022)gtcfs	p.V674fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	674					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCTCACGGACCCGGGGAGTC	0.652																																																0			11											35	35	35					11																	118772432		2200	4295	6495	118277642	SO:0001589	frameshift_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2020delG	11.37:g.118772432delC	ENSP00000335320:p.Val674fs		118277642	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	CCDS8403.1																																																																																				0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		-	118772432	C	-	118772432	7	5	365	1	0	1	0	1	0	0	0	0	1382	507	18	0	2491	0	BCL9L	11	118772432	Frame_Shift_Del	DEL	C	TCGA-30-1855-01A-01W-0639-09	49184344	118772432	16234084	66	20110											
GRIN2B	2904	genome.wustl.edu	37	12	13828710	13828710	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:13828710A>C	ENST00000609686.1	-	4	1303	c.1094T>G	c.(1093-1095)aTt>aGt	p.I365S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	365					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCAGAAGAATTATCACCAG	0.388																																																0			12											130	125	127					12																	13828710		2203	4300	6503	13719977	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1094T>G	12.37:g.13828710A>C	ENSP00000477455:p.Ile365Ser		13719977	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416657	0.83449	.	.	ENSG00000150086	ENST00000279593	T	0.09723	2.95	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.23190	-1.0195	10	0.87932	D	0	.	16.2484	0.82467	1.0:0.0:0.0:0.0	.	365	Q13224	NMDE2_HUMAN	S	365	ENSP00000279593:I365S	ENSP00000279593:I365S	I	-	2	0	GRIN2B	13719977	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.904000	0.92590	2.291000	0.77112	0.533000	0.62120	ATT		0.388	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			C	13828710	A	C	13828710	3	2	365	1	0	0	0	0	1	0	0	0	6780	101	4	5	3400	5	GRIN2B	12	13828710	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09		13828710	120023185	67	20111											
TUBA1B	10376	genome.wustl.edu	37	12	49523282	49523282	+	Splice_Site	SNP	C	C	A	rs112565631|rs11546613		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:49523282C>A	ENST00000336023.5	-	2	321		c.e2+1		RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b						'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTCAACTCACCAATGACTGT	0.577																																																0			12											125	120	122					12																	49523282		2203	4300	6503	47809549	SO:0001630	splice_region_variant	10376			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"Tubulins"	18809	protein-coding gene	gene with protein product	"tubulin, alpha, ubiquitous"	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.226+1G>T	12.37:g.49523282C>A			47809549	P04687|P05209|Q27I68|Q8WU19	Splice_Site	SNP	ENST00000336023.5	37	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815747	0.50527	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367;ENST00000549870;ENST00000547476;ENST00000552984	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8584	0.57899	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TUBA1B	47809549	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.545000	0.82128	2.085000	0.62840	0.558000	0.71614	.		0.577	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082	Intron	A	49523282	C	A	49523282	5	1	365	1	0	0	0	0	0	0	1	0	16744	521	18	3	1140	3	TUBA1B	12	49523282	Splice_Site	SNP	C	TCGA-30-1855-01A-01W-0639-09	35694572	49523282	84328613	68	20112											
KRT2	3849	genome.wustl.edu	37	12	53045405	53045405	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:53045405C>T	ENST00000309680.3	-	1	543	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	174	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTGGGCCTTCACATTCTGGA	0.527																																																0			12											148	142	144					12																	53045405		2203	4300	6503	51331672	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.522G>A	12.37:g.53045405C>T			51331672	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.527	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		T	53045405	C	T	53045405	2	4	365	1	0	0	0	0	0	0	0	1	8457	813	29	2		2	KRT2	12	53045405	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	3522123	53045405	80806490	69	20113											
KRT3	3850	genome.wustl.edu	37	12	53185478	53185478	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:53185478C>G	ENST00000417996.2	-	6	1385	c.1311G>C	c.(1309-1311)aaG>aaC	p.K437N	KRT3_ENST00000309505.3_Missense_Mutation_p.K437N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	437	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ATCCCACCTGCTTCTTGACAC	0.557																																																0			12											103	104	103					12																	53185478		2199	4300	6499	51471745	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1311G>C	12.37:g.53185478C>G	ENSP00000413479:p.Lys437Asn		51471745	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727324	0.48833	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.88818	-2.43;-2.43	4.02	3.12	0.35913	Filament (1);	0.000000	0.47455	D	0.000237	D	0.87466	0.6184	M	0.65498	2.005	0.38371	D	0.944888	P	0.52170	0.951	P	0.46885	0.53	D	0.88257	0.2920	10	0.62326	D	0.03	.	7.4271	0.27105	0.0:0.7462:0.0:0.2538	.	437	P12035	K2C3_HUMAN	N	437	ENSP00000413479:K437N;ENSP00000312206:K437N	ENSP00000312206:K437N	K	-	3	2	KRT3	51471745	0.924000	0.31332	1.000000	0.80357	0.682000	0.39822	0.034000	0.13776	2.247000	0.74100	0.462000	0.41574	AAG		0.557	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		G	53185478	C	G	53185478	3	3	365	1	0	0	0	0	1	0	0	0	8466	796	28	3	591	3	KRT3	12	53185478	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	140073	53185478	80666417	70	20114											
TIMELESS	8914	genome.wustl.edu	37	12	56824684	56824684	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:56824684A>C	ENST00000553532.1	-	9	1040	c.890T>G	c.(889-891)tTt>tGt	p.F297C	TIMELESS_ENST00000554616.1_Missense_Mutation_p.F297C|TIMELESS_ENST00000229201.4_Missense_Mutation_p.F296C					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCTTTGTGAAAGATGAGGTC	0.448																																																0			12											184	178	180					12																	56824684		2203	4300	6503	55110951	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.890T>G	12.37:g.56824684A>C	ENSP00000450607:p.Phe297Cys		55110951		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514126	0.44763	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.11495	3.29;3.29;2.77	5.51	5.51	0.81932	.	0.058253	0.64402	D	0.000001	T	0.13543	0.0328	N	0.12182	0.205	0.38828	D	0.955788	D;D	0.76494	0.999;0.998	P;P	0.62740	0.906;0.808	T	0.20605	-1.0270	10	0.37606	T	0.19	-14.6524	10.2132	0.43154	0.8516:0.0:0.0:0.1484	.	296;297	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	C	296;297;297	ENSP00000229201:F296C;ENSP00000450607:F297C;ENSP00000450848:F297C	ENSP00000229201:F297C	F	-	2	0	TIMELESS	55110951	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.047000	0.57383	2.234000	0.73211	0.528000	0.53228	TTT		0.448	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		C	56824684	A	C	56824684	3	2	365	1	0	0	0	0	1	0	0	0	15904	14	1	5	2820	5	TIMELESS	12	56824684	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09	3639206	56824684	77027211	71	20115											
TRHDE	29953	genome.wustl.edu	37	12	72680492	72680492	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:72680492C>T	ENST00000261180.4	+	2	907	c.811C>T	c.(811-813)Cat>Tat	p.H271Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	271					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTCGCCTACACATGCCAGAAA	0.353																																																0			12											134	124	128					12																	72680492		2203	4300	6503	70966759	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.811C>T	12.37:g.72680492C>T	ENSP00000261180:p.His271Tyr		70966759	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716574|4.716574	0.89205|0.89205	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|T	0.04454|0.03152	3.62|4.03	5.83|5.83	5.83|5.83	0.93111|0.93111	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.07324|0.07324	0.0185|0.0185	N|N	0.16708|0.16708	0.43|0.43	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.60609|.	0.877|.	T|T	0.38457|0.38457	-0.9660|-0.9660	10|7	0.42905|0.66056	T|D	0.14|0.02	.|.	20.1338|20.1338	0.98010|0.98010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	271|.	Q9UKU6|.	TRHDE_HUMAN|.	Y|I	271|36	ENSP00000261180:H271Y|ENSP00000447822:T36I	ENSP00000261180:H271Y|ENSP00000447822:T36I	H|T	+|+	1|2	0|0	TRHDE|TRHDE	70966759|70966759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		T	72680492	C	T	72680492	3	4	365	1	0	0	0	0	1	0	0	0	16479	478	17	2	817	2	TRHDE	12	72680492	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	15855808	72680492	61171403	72	20116											
LRRIQ1	84125	genome.wustl.edu	37	12	85638579	85638579	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:85638579A>G	ENST00000393217.2	+	27	5090	c.5029A>G	c.(5029-5031)Agc>Ggc	p.S1677G	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1677										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGACTTGTAAGCAGAGAAGA	0.398																																																0			12											111	100	103					12																	85638579		1849	4114	5963	84162710	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.5029A>G	12.37:g.85638579A>G	ENSP00000376910:p.Ser1677Gly		84162710	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.583913	0.65992	.	.	ENSG00000133640	ENST00000393217	T	0.55930	0.49	5.9	5.9	0.94986	.	.	.	.	.	T	0.57257	0.2041	N	0.19112	0.55	0.33306	D	0.56543	D	0.76494	0.999	D	0.65443	0.935	T	0.67465	-0.5664	9	0.46703	T	0.11	.	14.8955	0.70642	1.0:0.0:0.0:0.0	.	1677	Q96JM4	LRIQ1_HUMAN	G	1677	ENSP00000376910:S1677G	ENSP00000376910:S1677G	S	+	1	0	LRRIQ1	84162710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.415000	0.73328	2.254000	0.74563	0.460000	0.39030	AGC		0.398	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		G	85638579	A	G	85638579	3	3	365	1	0	0	0	0	1	0	0	0	9029	72	3	4	5135	4	LRRIQ1	12	85638579	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09	12958087	85638579	48213316	73	20117											
METAP2	84101	genome.wustl.edu	37	12	95907666	95907666	+	IGR	SNP	G	G	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:95907666G>C	ENST00000258499.3	-	0	4022				METAP2_ENST00000551840.1_Missense_Mutation_p.G474R|METAP2_ENST00000550777.1_Missense_Mutation_p.G439R|METAP2_ENST00000546753.1_Missense_Mutation_p.G452R|METAP2_ENST00000323666.5_Missense_Mutation_p.G475R|METAP2_ENST00000261220.9_Missense_Mutation_p.G452R	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TGTCAGCAGAGGAGATGACTA	0.378																																																0			12											123	106	112					12																	95907666		2203	4300	6503	94431797	SO:0001628	intergenic_variant	10988			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7			12.37:g.95907666G>C			94431797	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321683	0.81580	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.48	5.48	0.80851	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	D	0.91043	0.7182	H	0.98594	4.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999	D	0.94321	0.7553	9	0.87932	D	0	-11.6801	19.35	0.94379	0.0:0.0:1.0:0.0	.	452;439;452;474;475	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	R	475;452;452;439;474	.	ENSP00000261220:G452R	G	+	1	0	METAP2	94431797	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.572000	0.86782	0.563000	0.77884	GGA		0.378	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		C	95907666	G	C	95907666	1	2	365	0	1	0	0	0	0	0	0	0	9487	1001	35	3		3	METAP2	12	95907666	IGR	SNP	G	TCGA-30-1855-01A-01W-0639-09	10269087	95907666	37944229	74	20118											
CLIP1	6249	genome.wustl.edu	37	12	122825324	122825324	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:122825324A>G	ENST00000540338.1	-	10	2468	c.2427T>C	c.(2425-2427)atT>atC	p.I809I	CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000537178.1_Silent_p.I763I|CLIP1_ENST00000302528.7_Silent_p.I798I|CLIP1_ENST00000358808.2_Silent_p.I798I|CLIP1_ENST00000545889.1_Intron			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	809					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CATTCTTTTCAATCTCTAAAT	0.363																																																0			12											106	109	108					12																	122825324		2203	4300	6503	121391277	SO:0001819	synonymous_variant	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2427T>C	12.37:g.122825324A>G			121391277	A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	CCDS58285.1																																																																																				0.363	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		G	122825324	A	G	122825324	2	3	365	1	0	0	0	0	0	0	0	1	3532	126	5	4		4	CLIP1	12	122825324	Silent	SNP	A	TCGA-30-1855-01A-01W-0639-09	26917658	122825324	11026571	75	20119											
TRPC4	7223	genome.wustl.edu	37	13	38225539	38225539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr13:38225539C>A	ENST00000379705.3	-	8	2799	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.E475*|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E648*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E648*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E648*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.E475*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E648*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	648	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTCCTTCTTCAAAATAACTC	0.423																																																0			13											131	128	129					13																	38225539		2203	4300	6503	37123539	SO:0001587	stop_gained	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1942G>T	13.37:g.38225539C>A	ENSP00000369027:p.Glu648*		37123539	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	40	8.434790	0.98810	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.2525	19.7571	0.96298	0.0:1.0:0.0:0.0	.	.	.	.	X	648;648;475;475;648;648;648	.	ENSP00000342580:E475X	E	-	1	0	TRPC4	37123539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.758000	0.94735	0.561000	0.74099	GAA		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		A	38225539	C	A	38225539	4	1	365	1	0	0	0	0	0	1	0	0	16580	835	29	3	1022	3	TRPC4	13	38225539	Nonsense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09		38225539	76944339	76	20120											
TMTC4	84899	genome.wustl.edu	37	13	101264688	101264688	+	Silent	SNP	C	C	G	rs571739383		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr13:101264688C>G	ENST00000376234.3	-	16	2160	c.1971G>C	c.(1969-1971)tcG>tcC	p.S657S	TMTC4_ENST00000342624.5_Silent_p.S676S|TMTC4_ENST00000328767.5_Silent_p.S546S	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	657						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTTTGCCAACGAGAACATGA	0.453																																																0			13											148	138	141					13																	101264688		2203	4300	6503	100062689	SO:0001819	synonymous_variant	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1971G>C	13.37:g.101264688C>G			100062689	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	CCDS41904.1																																																																																				0.453	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		G	101264688	C	G	101264688	2	3	365	1	0	0	0	0	0	0	0	1	16263	523	19	3		3	TMTC4	13	101264688	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	63039149	101264688	13905190	77	20121											
OR4K1	79544	genome.wustl.edu	37	14	20404676	20404676	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:20404676C>A	ENST00000285600.4	+	1	910	c.851C>A	c.(850-852)cCc>cAc	p.P284H		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTGTTGAACCCCATCATCTAC	0.423																																																0			14											101	111	108					14																	20404676		2203	4300	6503	19474516	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.851C>A	14.37:g.20404676C>A	ENSP00000285600:p.Pro284His		19474516	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.905750	0.52333	.	.	ENSG00000155249	ENST00000285600	T	0.64260	-0.09	5.09	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.80082	0.4558	M	0.87971	2.92	0.43308	D	0.995319	D	0.76494	0.999	D	0.70716	0.97	D	0.83760	0.0214	10	0.87932	D	0	.	12.8921	0.58078	0.1639:0.8361:0.0:0.0	.	284	Q8NGD4	OR4K1_HUMAN	H	284	ENSP00000285600:P284H	ENSP00000285600:P284H	P	+	2	0	OR4K1	19474516	0.998000	0.40836	0.973000	0.42090	0.582000	0.36321	5.077000	0.64419	1.384000	0.46424	-0.127000	0.14921	CCC		0.423	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			A	20404676	C	A	20404676	3	1	365	1	0	0	0	0	1	0	0	0	11067	623	22	3	853	3	OR4K1	14	20404676	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09		20404676	86944864	78	20122											
NFKBIA	4792	genome.wustl.edu	37	14	35871980	35871991	+	In_Frame_Del	DEL	AGCATTGACATC	AGCATTGACATC	-			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	AGCATTGACATC	AGCATTGACATC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:35871980_35871991delAGCATTGACATC	ENST00000216797.5	-	4	723_734	c.622_633delGATGTCAATGCT	c.(622-633)gatgtcaatgctdel	p.DVNA208del	NFKBIA_ENST00000557100.1_Intron|NFKBIA_ENST00000557140.1_In_Frame_Del_p.DVNA208del|NFKBIA_ENST00000557389.1_In_Frame_Del_p.DVNA118del	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	208					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	CACCAACCTGAGCATTGACATCAGCACCCAAG	0.495																																																0			14																																								34941742	SO:0001651	inframe_deletion	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.622_633delGATGTCAATGCT	14.37:g.35871980_35871991delAGCATTGACATC	ENSP00000216797:p.Asp208_Ala211del		34941731	B2R8L6	In_Frame_Del	DEL	ENST00000216797.5	37	CCDS9656.1																																																																																				0.495	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		-	35871991	AGCATTGACATC	-	35871980	7	5	365	1	0	1	0	1	0	0	0	0	10377	291	11	0	332	0	NFKBIA	14	35871980	In_Frame_Del	DEL	AGCATTGACATC	TCGA-30-1855-01A-01W-0639-09	15467304	35871980	71477560	79	20123											
NFKBIA	4792	genome.wustl.edu	37	14	35872554	35872558	+	Frame_Shift_Del	DEL	AGTGG	AGTGG	-			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	AGTGG	AGTGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:35872554_35872558delAGTGG	ENST00000216797.5	-	3	446_450	c.345_349delCCACT	c.(343-351)ctccacttgfs	p.LHL115fs	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Frame_Shift_Del_p.LHL115fs|NFKBIA_ENST00000557389.1_Frame_Shift_Del_p.LHL25fs	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	115					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	ATCACAGCCAAGTGGAGTGGAGTCT	0.556																																																0			14																																								34942309	SO:0001589	frameshift_variant	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.345_349delCCACT	14.37:g.35872559_35872563delAGTGG	ENSP00000216797:p.Leu115fs		34942305	B2R8L6	Frame_Shift_Del	DEL	ENST00000216797.5	37	CCDS9656.1																																																																																				0.556	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		-	35872558	AGTGG	-	35872554	7	5	365	1	0	1	0	1	0	0	0	0	10377	69	3	0	620	0	NFKBIA	14	35872554	Frame_Shift_Del	DEL	AGTGG	TCGA-30-1855-01A-01W-0639-09	574	35872554	71476986	80	20124											
WDR89	112840	genome.wustl.edu	37	14	64065625	64065625	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:64065625A>G	ENST00000394942.2	-	2	1124	c.1036T>C	c.(1036-1038)Tta>Cta	p.L346L	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Silent_p.L346L	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	346										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TTCCAAAGTAACAACTGTGCA	0.433																																																0			14											135	121	126					14																	64065625		2203	4300	6503	63135378	SO:0001819	synonymous_variant	112840			AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"WD repeat domain containing"	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.1036T>C	14.37:g.64065625A>G			63135378		Silent	SNP	ENST00000394942.2	37	CCDS9759.1																																																																																				0.433	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		G	64065625	A	G	64065625	2	3	365	1	0	0	0	0	0	0	0	1	17336	40	2	4		4	WDR89	14	64065625	Silent	SNP	A	TCGA-30-1855-01A-01W-0639-09	28193071	64065625	43283915	81	20125											
SYNE2	23224	genome.wustl.edu	37	14	64625437	64625437	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:64625437T>G	ENST00000344113.4	+	86	16099	c.15887T>G	c.(15886-15888)tTc>tGc	p.F5296C	SYNE2_ENST00000357395.3_Missense_Mutation_p.F1681C|SYNE2_ENST00000554584.1_Missense_Mutation_p.F5213C|SYNE2_ENST00000394768.2_Missense_Mutation_p.F1681C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.F1930C|SYNE2_ENST00000358025.3_Missense_Mutation_p.F5296C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5296					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAATCCGATTCTGGTACTGC	0.438																																																0			14											134	116	122					14																	64625437		2203	4300	6503	63695190	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15887T>G	14.37:g.64625437T>G	ENSP00000341781:p.Phe5296Cys		63695190	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772886	0.49680	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.77	5.77	0.91146	.	0.217598	0.32736	N	0.005713	T	0.47451	0.1446	L	0.56769	1.78	0.21897	N	0.999483	D;D;D;P;D	0.69078	0.967;0.997;0.996;0.944;0.989	P;D;P;P;P	0.63192	0.77;0.912;0.8;0.593;0.846	T	0.49263	-0.8958	10	0.38643	T	0.18	.	5.6809	0.17776	0.1507:0.0791:0.0:0.7702	.	1681;5219;5213;5296;5296	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	C	5296;1681;5296;5213;5219;1930;1681	ENSP00000350719:F5296C;ENSP00000349969:F1681C;ENSP00000341781:F5296C;ENSP00000452570:F5213C;ENSP00000450831:F1930C;ENSP00000378249:F1681C	ENSP00000261678:F5219C	F	+	2	0	SYNE2	63695190	0.069000	0.21087	0.092000	0.20876	0.995000	0.86356	0.949000	0.29109	2.326000	0.78906	0.528000	0.53228	TTC		0.438	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64625437	T	G	64625437	3	3	365	1	0	0	0	0	1	0	0	0	15446	1783	62	5	16225	5	SYNE2	14	64625437	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	559812	64625437	42724103	82	20126											
AKT1	207	genome.wustl.edu	37	14	105242058	105242058	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:105242058C>T	ENST00000554581.1	-	4	1846	c.366G>A	c.(364-366)tcG>tcA	p.S122S	AKT1_ENST00000349310.3_Silent_p.S122S|AKT1_ENST00000402615.2_Silent_p.S122S|AKT1_ENST00000554848.1_Silent_p.S122S|AKT1_ENST00000407796.2_Silent_p.S122S|AKT1_ENST00000555528.1_Silent_p.S122S|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000544168.1_Silent_p.S60S|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000554192.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	122					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TGGGTGAGCCCGACCGGAAGT	0.632		1	Mis		"breast, colorectal, ovarian, NSCLC"																																		Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0			14											151	108	123					14																	105242058		2203	4300	6503	104313103	SO:0001819	synonymous_variant	207			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.366G>A	14.37:g.105242058C>T			104313103	B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	CCDS9994.1																																																																																				0.632	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		T	105242058	C	T	105242058	2	4	365	1	0	0	0	0	0	0	0	1	478	639	23	1		1	AKT1	14	105242058	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	40616621	105242058	2107482	83	20127											
TRPM7	54822	genome.wustl.edu	37	15	50935666	50935666	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:50935666C>G	ENST00000313478.7	-	5	687	c.406G>C	c.(406-408)Gtt>Ctt	p.V136L	TRPM7_ENST00000560955.1_Missense_Mutation_p.V136L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	136					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACAGAGATAACAAGTTTGGGT	0.403																																																0			15											119	109	112					15																	50935666		1863	4115	5978	48722958	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.406G>C	15.37:g.50935666C>G	ENSP00000320239:p.Val136Leu		48722958	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131451	0.37630	.	.	ENSG00000092439	ENST00000313478	T	0.01113	5.32	5.1	5.1	0.69264	.	0.067447	0.64402	D	0.000011	T	0.01029	0.0034	N	0.13098	0.295	0.53005	D	0.999961	B	0.15141	0.012	B	0.16289	0.015	T	0.56105	-0.8034	10	0.06494	T	0.89	-22.9973	18.7015	0.91621	0.0:1.0:0.0:0.0	.	136	Q96QT4	TRPM7_HUMAN	L	136	ENSP00000320239:V136L	ENSP00000320239:V136L	V	-	1	0	TRPM7	48722958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.004000	0.57068	2.632000	0.89209	0.650000	0.86243	GTT		0.403	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		G	50935666	C	G	50935666	3	3	365	1	0	0	0	0	1	0	0	0	16591	478	17	3	5331	3	TRPM7	15	50935666	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09		50935666	51595726	84	20128											
NEDD4	4734	genome.wustl.edu	37	15	56208755	56208755	+	Missense_Mutation	SNP	T	T	G	rs372470866		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:56208755T>G	ENST00000508342.1	-	1	574	c.275A>C	c.(274-276)cAg>cCg	p.Q92P	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q92P|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q92P	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	92	Ser-rich.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTTGTTGGCTGTAGTGAAAT	0.378																																																0			15											154	135	142					15																	56208755		2193	4292	6485	53996047	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.275A>C	15.37:g.56208755T>G	ENSP00000424827:p.Gln92Pro		53996047	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.	.	.	.	.	.	.	.	.	.	T	18.91	3.722880	0.68959	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.44881	0.91;0.91;0.91	5.39	4.26	0.50523	.	0.455228	0.16302	N	0.220419	T	0.54111	0.1838	.	.	.	0.27371	N	0.955684	D;D;D	0.63880	0.993;0.989;0.993	P;P;P	0.58210	0.835;0.688;0.835	T	0.49133	-0.8971	9	0.87932	D	0	.	10.2055	0.43109	0.0:0.0781:0.0:0.9219	.	92;92;92	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	P	92	ENSP00000424827:Q92P;ENSP00000345530:Q92P;ENSP00000422705:Q92P	ENSP00000345530:Q92P	Q	-	2	0	NEDD4	53996047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.587000	0.67510	2.182000	0.69389	0.482000	0.46254	CAG		0.378	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		G	56208755	T	G	56208755	3	3	365	1	0	0	0	0	1	0	0	0	10310	1580	55	5	3784	5	NEDD4	15	56208755	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	5273089	56208755	46322637	85	20129											
TCF12	6938	genome.wustl.edu	37	15	57545612	57545612	+	Silent	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:57545612C>A	ENST00000267811.5	+	15	1645	c.1341C>A	c.(1339-1341)ctC>ctA	p.L447L	TCF12_ENST00000452095.2_Silent_p.L467L|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000559710.1_Silent_p.L81L|TCF12_ENST00000438423.2_Silent_p.L471L|TCF12_ENST00000333725.5_Silent_p.L471L|TCF12_ENST00000343827.3_Silent_p.L277L|TCF12_ENST00000559703.1_Silent_p.L105L|TCF12_ENST00000537840.1_Silent_p.L211L|TCF12_ENST00000543579.1_Silent_p.L301L|TCF12_ENST00000557843.1_Silent_p.L447L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	447					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTGGAAGCCTCAATTCAAACT	0.433			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	0			15											153	127	136					15																	57545612		2192	4292	6484	55332904	SO:0001819	synonymous_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1341C>A	15.37:g.57545612C>A			55332904	Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	CCDS10159.1																																																																																				0.433	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		A	57545612	C	A	57545612	2	1	365	1	0	0	0	0	0	0	0	1	15687	813	29	3		3	TCF12	15	57545612	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	1336857	57545612	44985780	86	20130											
SLC28A1	9154	genome.wustl.edu	37	15	85438287	85438287	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:85438287C>T	ENST00000286749.3	+	5	484	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	SLC28A1_ENST00000538177.1_Silent_p.L132L|SLC28A1_ENST00000537216.1_Silent_p.L132L|SLC28A1_ENST00000394573.1_Silent_p.L132L|SLC28A1_ENST00000338602.2_Silent_p.L132L|SLC28A1_ENST00000537703.1_Silent_p.L54L|SLC28A1_ENST00000537624.1_Silent_p.L132L			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	132					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GAAACGGCTTCTGGGGCCAAA	0.632																																																0			15											60	62	61					15																	85438287		2203	4299	6502	83239291	SO:0001819	synonymous_variant	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.394C>T	15.37:g.85438287C>T			83239291	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	CCDS10334.1																																																																																				0.632	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			T	85438287	C	T	85438287	2	4	365	1	0	0	0	0	0	0	0	1	14534	912	32	2		2	SLC28A1	15	85438287	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	27892675	85438287	17093105	87	20131											
IL21R	50615	genome.wustl.edu	37	16	27454297	27454297	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr16:27454297C>A	ENST00000337929.3	+	5	840	c.367C>A	c.(367-369)Cct>Act	p.P123T	IL21R_ENST00000395755.1_Missense_Mutation_p.P123T|IL21R_ENST00000564089.1_Missense_Mutation_p.P123T|IL21R_ENST00000395754.4_Missense_Mutation_p.P123T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	123	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCCGGCTCCCCCTTTCAACGT	0.498			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16											123	123	123					16																	27454297		2197	4300	6497	27361798	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.367C>A	16.37:g.27454297C>A	ENSP00000338010:p.Pro123Thr		27361798	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914551	0.72983	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.92752	-3.1;-3.1;-3.1	4.81	4.81	0.61882	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95506	0.8540	M	0.77820	2.39	0.44000	D	0.996703	D	0.76494	0.999	D	0.75484	0.986	D	0.95811	0.8841	10	0.72032	D	0.01	-10.9783	13.3817	0.60770	0.0:1.0:0.0:0.0	.	123	Q9HBE5	IL21R_HUMAN	T	123	ENSP00000338010:P123T;ENSP00000379104:P123T;ENSP00000379103:P123T	ENSP00000338010:P123T	P	+	1	0	IL21R	27361798	0.994000	0.37717	1.000000	0.80357	0.976000	0.68499	4.051000	0.57412	2.209000	0.71365	0.484000	0.47621	CCT		0.498	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		A	27454297	C	A	27454297	3	1	365	1	0	0	0	0	1	0	0	0	7671	623	22	3	381	3	IL21R	16	27454297	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09		27454297	62900456	88	20132											
HYDIN	54768	genome.wustl.edu	37	16	71022301	71022301	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr16:71022301C>G	ENST00000393567.2	-	26	4129	c.3979G>C	c.(3979-3981)Gaa>Caa	p.E1327Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1327					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTACTTCTTCTATCCCAATG	0.428																																																0			16											1	1	1					16																	71022301		277	1351	1628	69579802	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3979G>C	16.37:g.71022301C>G	ENSP00000377197:p.Glu1327Gln		69579802	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.612004	0.46631	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00995	5.46	4.76	4.76	0.60689	.	0.000000	0.33290	U	0.005075	T	0.03220	0.0094	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.68903	-0.5286	10	0.19147	T	0.46	.	13.6053	0.62044	0.0:1.0:0.0:0.0	.	1326	F8WD23	.	Q	1327;1326	ENSP00000377197:E1327Q	ENSP00000313052:E1326Q	E	-	1	0	HYDIN	69579802	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.956000	0.56722	2.344000	0.79699	0.511000	0.50034	GAA		0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	71022301	C	G	71022301	3	3	365	1	0	0	0	0	1	0	0	0	7467	922	32	3	11630	3	HYDIN	16	71022301	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	43568004	71022301	19332452	89	20133											
TP53	7157	genome.wustl.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		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"	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	17	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82	74	76					17																	7578290		2203	4300	6503	7519015	SO:0001630	splice_region_variant	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.560-1G>A	17.37:g.7578290C>T			7519015	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7578290	C	T	7578290	5	4	365	1	0	0	0	0	0	0	1	0	16381	695	24	2	735	2	TP53	17	7578290	Splice_Site	SNP	C	TCGA-30-1855-01A-01W-0639-09		7578290	73616920	90	20134											
DNAH9	1770	genome.wustl.edu	37	17	11738172	11738183	+	In_Frame_Del	DEL	CAGCACTCACAG	CAGCACTCACAG	-	rs138685018	byFrequency	TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	CAGCACTCACAG	CAGCACTCACAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr17:11738172_11738183delCAGCACTCACAG	ENST00000262442.4	+	49	9532_9543	c.9464_9475delCAGCACTCACAG	c.(9463-9477)ccagcactcacagca>cca	p.ALTA3156del	DNAH9_ENST00000454412.2_In_Frame_Del_p.ALTA3156del	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3156	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A3156P(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGGCTGAGCCAGCACTCACAGCAGCGCAGGC	0.566																																																1	Substitution - Missense(1)	kidney(1)	17																																								11678908	SO:0001651	inframe_deletion	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9464_9475delCAGCACTCACAG	17.37:g.11738172_11738183delCAGCACTCACAG	ENSP00000262442:p.Ala3156_Ala3159del		11678897	A2VCQ8|O15064|O95494|Q9NQ28	In_Frame_Del	DEL	ENST00000262442.4	37	CCDS11160.1																																																																																				0.566	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		-	11738183	CAGCACTCACAG	-	11738172	7	5	365	1	0	1	0	1	0	0	0	0	4608	594	21	0	9658	0	DNAH9	17	11738172	In_Frame_Del	DEL	CAGCACTCACAG	TCGA-30-1855-01A-01W-0639-09	4159882	11738172	69457038	91	20135											
AMAC1	146861	genome.wustl.edu	37	17	33520855	33520855	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr17:33520855C>T	ENST00000297307.5	-	1	557	c.472G>A	c.(472-474)Gac>Aac	p.D158N	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	158	EamA 1.					integral component of membrane (GO:0016021)											CCACACCAGTCGTAGCCACTG	0.602																																																0			17											165	160	162					17																	33520855		2203	4300	6503	30544968	SO:0001583	missense	146861			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.472G>A	17.37:g.33520855C>T	ENSP00000297307:p.Asp158Asn		30544968	B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357664	0.41801	.	.	ENSG00000164729	ENST00000297307	T	0.52983	0.64	.	.	.	.	0.126803	0.34603	N	0.003838	T	0.31071	0.0785	L	0.32530	0.975	0.35979	D	0.835851	P	0.45176	0.852	B	0.40506	0.331	T	0.24083	-1.0170	9	0.48119	T	0.1	-2.0102	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	158	Q8N808	S35G3_HUMAN	N	158	ENSP00000297307:D158N	ENSP00000297307:D158N	D	-	1	0	SLC35G3	30544968	0.987000	0.35691	0.164000	0.22755	0.164000	0.22412	1.853000	0.39358	0.064000	0.16427	0.064000	0.15345	GAC		0.602	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		T	33520855	C	T	33520855	3	4	365	1	0	0	0	0	1	0	0	0	559	884	31	1	548	1	AMAC1	17	33520855	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	21782683	33520855	47674355	92	20136											
MEP1B	4225	genome.wustl.edu	37	18	29797730	29797730	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr18:29797730G>T	ENST00000269202.6	+	14	1940	c.1893G>T	c.(1891-1893)caG>caT	p.Q631H	MEP1B_ENST00000581447.1_Missense_Mutation_p.Q631H	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	631	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCAGGTGCCAGTCAGGGGAAG	0.438																																																0			18											96	97	97					18																	29797730		1997	4174	6171	28051728	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1893G>T	18.37:g.29797730G>T	ENSP00000269202:p.Gln631His		28051728	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	G	5.154	0.213972	0.09810	.	.	ENSG00000141434	ENST00000269202	D	0.91792	-2.91	5.41	-6.96	0.01622	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.968286	0.08599	N	0.921750	T	0.78142	0.4237	N	0.17082	0.46	0.09310	N	1	B	0.27971	0.196	B	0.26770	0.073	T	0.66598	-0.5883	10	0.39692	T	0.17	0.0564	0.24	0.00191	0.3199:0.1971:0.2491:0.2339	.	631	Q16820	MEP1B_HUMAN	H	631	ENSP00000269202:Q631H	ENSP00000269202:Q631H	Q	+	3	2	MEP1B	28051728	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.049000	0.01405	-1.076000	0.03125	-0.373000	0.07131	CAG		0.438	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		T	29797730	G	T	29797730	3	4	365	1	0	0	0	0	1	0	0	0	9476	1020	36	3	1947	3	MEP1B	18	29797730	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09		29797730	48279518	93	20137											
MBD1	4152	genome.wustl.edu	37	18	47803285	47803285	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr18:47803285C>T	ENST00000591416.1	-	4	740	c.309G>A	c.(307-309)caG>caA	p.Q103Q	MBD1_ENST00000585595.1_Silent_p.Q103Q|MBD1_ENST00000349085.2_Silent_p.Q103Q|MBD1_ENST00000382948.5_Silent_p.Q103Q|MBD1_ENST00000436910.1_Silent_p.Q103Q|MBD1_ENST00000457839.2_Silent_p.Q103Q|MBD1_ENST00000398493.1_Silent_p.Q103Q|MBD1_ENST00000587605.1_Silent_p.Q103Q|MBD1_ENST00000339998.6_Silent_p.Q103Q|MBD1_ENST00000269471.5_Silent_p.Q103Q|MBD1_ENST00000588937.1_Silent_p.Q103Q|MBD1_ENST00000590208.1_Silent_p.Q103Q|MBD1_ENST00000269468.5_Silent_p.Q103Q|MBD1_ENST00000347968.3_Silent_p.Q103Q|MBD1_ENST00000398488.1_Silent_p.Q103Q|MBD1_ENST00000585672.1_Silent_p.Q103Q|MBD1_ENST00000591535.1_Silent_p.Q103Q|MBD1_ENST00000353909.3_Silent_p.Q103Q|MBD1_ENST00000398495.2_Silent_p.Q103Q|MBD1_ENST00000424334.2_Silent_p.Q129Q			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	103					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCTCACCACTCTGGGGTCCAA	0.587																																																0			18											135	124	128					18																	47803285		2203	4300	6503	46057283	SO:0001819	synonymous_variant	4152			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.309G>A	18.37:g.47803285C>T			46057283	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	CCDS11943.1																																																																																				0.587	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		T	47803285	C	T	47803285	2	4	365	1	0	0	0	0	0	0	0	1	9342	912	32	2		2	MBD1	18	47803285	Silent	SNP	C	TCGA-30-1855-01A-01W-0639-09	18005555	47803285	30273963	94	20138											
TSHZ1	10194	genome.wustl.edu	37	18	72999923	72999923	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr18:72999923A>G	ENST00000580243.1	+	2	2909	c.2561A>G	c.(2560-2562)aAg>aGg	p.K854R	TSHZ1_ENST00000322038.5_Missense_Mutation_p.K809R			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	854					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTGACGCCCAAGTCCTCCACG	0.602																																																0			18											67	61	63					18																	72999923		2203	4300	6503	71128911	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2561A>G	18.37:g.72999923A>G	ENSP00000464391:p.Lys854Arg		71128911	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	A	10.51	1.369694	0.24771	.	.	ENSG00000179981	ENST00000322038	T	0.18338	2.22	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	M	0.81802	2.56	0.36724	D	0.88136	D	0.69078	0.997	D	0.75020	0.985	T	0.54964	-0.8214	10	0.59425	D	0.04	-35.9787	14.9319	0.70923	1.0:0.0:0.0:0.0	.	854	Q6ZSZ6	TSH1_HUMAN	R	809	ENSP00000323584:K809R	ENSP00000323584:K809R	K	+	2	0	TSHZ1	71128911	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.910000	0.92685	2.466000	0.83321	0.561000	0.74099	AAG		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		G	72999923	A	G	72999923	3	3	365	1	0	0	0	0	1	0	0	0	16623	72	3	4	2428	4	TSHZ1	18	72999923	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09	25196638	72999923	5077325	95	20139											
UHRF1	29128	genome.wustl.edu	37	19	4944464	4944464	+	RNA	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:4944464T>C	ENST00000592666.1	+	0	1881							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CGAGTCCAGGTACCTGCAGCG	0.657																																																0			19											38	41	40					19																	4944464		1949	4150	6099	4895464			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4944464T>C			4895464	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Splice_Site	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	T	19.80	3.895379	0.72639	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4329	0.61066	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	UHRF1	4895464	1.000000	0.71417	0.999000	0.59377	0.707000	0.40811	7.582000	0.82546	1.965000	0.57142	0.459000	0.35465	.		0.657	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		C	4944464	T	C	4944464	1	2	365	0	1	0	0	0	0	0	0	0	16967	1652	57	4		4	UHRF1	19	4944464	RNA	SNP	T	TCGA-30-1855-01A-01W-0639-09		4944464	54184519	96	20140											
COL5A3	50509	genome.wustl.edu	37	19	10116535	10116535	+	Missense_Mutation	SNP	G	G	A	rs556911692	byFrequency	TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:10116535G>A	ENST00000264828.3	-	3	459	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	125	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGACCCAGCGCTGGCCCCAG	0.632													G|||	2	0.000399361	0	0	5008	,	,		16022	0		0	False		,,,				2504	0.002															0			19											25	28	27					19																	10116535		2200	4299	6499	9977535	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.374C>T	19.37:g.10116535G>A	ENSP00000264828:p.Ala125Val		9977535	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451235	0.26074	.	.	ENSG00000080573	ENST00000264828	T	0.02177	4.41	4.02	1.76	0.24704	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.182059	0.37809	U	0.001924	T	0.02230	0.0069	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.42068	-0.9473	10	0.52906	T	0.07	.	4.77	0.13151	0.1301:0.2198:0.6502:0.0	.	125	P25940	CO5A3_HUMAN	V	125	ENSP00000264828:A125V	ENSP00000264828:A125V	A	-	2	0	COL5A3	9977535	0.058000	0.20735	0.026000	0.17262	0.096000	0.18686	2.314000	0.43743	0.327000	0.23409	0.462000	0.41574	GCG		0.632	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		A	10116535	G	A	10116535	3	1	365	1	0	0	0	0	1	0	0	0	3698	1087	38	1	5123	1	COL5A3	19	10116535	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	5172071	10116535	49012448	97	20141											
ZNF625	90589	genome.wustl.edu	37	19	12256311	12256311	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:12256311T>G	ENST00000355738.1	-	4	1071	c.722A>C	c.(721-723)cAa>cCa	p.Q241P	ZNF625_ENST00000439556.2_Missense_Mutation_p.Q307P|ZNF625_ENST00000542938.1_Missense_Mutation_p.Q241P|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTTCCCACATTGCTTACATTC	0.433																																																0			19											119	115	116					19																	12256311		2203	4300	6503	12117311	SO:0001583	missense	90589			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"Zinc fingers, C2H2-type", "-"	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.722A>C	19.37:g.12256311T>G	ENSP00000347977:p.Gln241Pro		12117311	A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37		.	.	.	.	.	.	.	.	.	.	T	14.28	2.489061	0.44249	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.07444	3.19;3.19;3.19	0.856	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13372	0.0324	L	0.41236	1.265	0.09310	N	1	P;D	0.56968	0.832;0.978	B;P	0.57846	0.1;0.828	T	0.15492	-1.0435	9	0.87932	D	0	.	5.9021	0.18972	0.0:0.0:0.0:1.0	.	241;241	A8K8U0;Q96I27	.;ZN625_HUMAN	P	241;241;307	ENSP00000438436:Q241P;ENSP00000347977:Q241P;ENSP00000394380:Q307P	ENSP00000347977:Q241P	Q	-	2	0	AC022415.5	12117311	0.000000	0.05858	0.017000	0.16124	0.817000	0.46193	-0.183000	0.09712	0.639000	0.30564	0.260000	0.18958	CAA		0.433	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		G	12256311	T	G	12256311	3	3	365	1	0	0	0	0	1	0	0	0	18049	1812	63	5	202	5	ZNF625	19	12256311	Missense_Mutation	SNP	T	TCGA-30-1855-01A-01W-0639-09	2139776	12256311	46872672	98	20142											
ZNF493	284443	genome.wustl.edu	37	19	21607748	21607748	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:21607748C>G	ENST00000355504.4	+	2	2169	c.1903C>G	c.(1903-1905)Cat>Gat	p.H635D	ZNF493_ENST00000392288.2_Missense_Mutation_p.H763D|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	635					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGATAATTCATATTGGAAT	0.373																																																0			19											46	48	47					19																	21607748		2203	4297	6500	21399588	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1903C>G	19.37:g.21607748C>G	ENSP00000347691:p.His635Asp		21399588	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	13.72	2.322134	0.41096	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.88975	-2.45;-2.45	1.17	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93442	0.7908	H	0.94964	3.605	0.80722	D	1	D;D	0.60575	0.961;0.988	P;P	0.54401	0.69;0.751	D	0.92892	0.6332	9	0.87932	D	0	.	9.1727	0.37093	0.0:1.0:0.0:0.0	.	635;763	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	D	763;635	ENSP00000376110:H763D;ENSP00000347691:H635D	ENSP00000347691:H635D	H	+	1	0	ZNF493	21399588	0.307000	0.24500	0.010000	0.14722	0.032000	0.12392	1.427000	0.34881	0.563000	0.29222	0.404000	0.27445	CAT		0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		G	21607748	C	G	21607748	3	3	365	1	0	0	0	0	1	0	0	0	17944	826	29	3	2364	3	ZNF493	19	21607748	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09	9351437	21607748	37521235	99	20143											
ZNF536	9745	genome.wustl.edu	37	19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:30936378G>A	ENST00000355537.3	+	2	2056	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	637					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G637S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGACTGCGGCCGGGTGTT	0.622																																																1	Substitution - Missense(1)	large_intestine(1)	19											82	94	90					19																	30936378		2203	4300	6503	35628218	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1909G>A	19.37:g.30936378G>A	ENSP00000347730:p.Gly637Ser		35628218	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754706	0.69648	.	.	ENSG00000198597	ENST00000355537	T	0.58358	0.34	5.68	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049558	0.85682	D	0.000000	T	0.67822	0.2934	L	0.59436	1.845	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.71935	-0.4442	10	0.72032	D	0.01	-33.1419	16.434	0.83869	0.0:0.1316:0.8684:0.0	.	637;637	A7E228;O15090	.;ZN536_HUMAN	S	637	ENSP00000347730:G637S	ENSP00000347730:G637S	G	+	1	0	ZNF536	35628218	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.435000	0.97529	1.324000	0.45282	0.655000	0.94253	GGC		0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		A	30936378	G	A	30936378	3	1	365	1	0	0	0	0	1	0	0	0	17974	1116	39	1	1911	1	ZNF536	19	30936378	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	9328630	30936378	28192605	100	20144											
KIR3DL1	3811	genome.wustl.edu	37	19	55331309	55331309	+	Missense_Mutation	SNP	G	G	A	rs375468097		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:55331309G>A	ENST00000391728.4	+	4	530	c.497G>A	c.(496-498)cGc>cAc	p.R166H	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.R71H|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R166H|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R166H|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R166H|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R166H	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	166	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GACCCCTCACGCCTCGTTGGA	0.507																																																0			19						G	HIS/ARG	0,4374		0,0,2187	175	162	167		497	0.2	0	19		167	1,8383		0,1,4191	no	missense	KIR3DL1	NM_013289.2	29	0,1,6378	AA,AG,GG		0.0119,0.0,0.0078		166/445	55331309	1,12757	2187	4192	6379	60023121	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.497G>A	19.37:g.55331309G>A	ENSP00000375608:p.Arg166His		60023121	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	0.007	-1.971643	0.00457	0.0	1.19E-4	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07;4.07	1.3	0.189	0.15119	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01800	0.0057	N	0.16862	0.45	0.09310	N	1	B;B;B;B	0.13594	0.006;0.006;0.008;0.003	B;B;B;B	0.12156	0.003;0.007;0.004;0.006	T	0.47812	-0.9088	9	0.02654	T	1	.	3.1027	0.06331	0.7123:0.0:0.2877:0.0	.	166;71;166;166	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	H	166;166;166;144;166;166;71	ENSP00000384528:R166H;ENSP00000443350:R166H;ENSP00000442355:R166H;ENSP00000375608:R166H;ENSP00000326868:R166H;ENSP00000350901:R71H	ENSP00000326868:R166H	R	+	2	0	KIR3DL1	60023121	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.997000	0.03705	0.019000	0.15079	0.184000	0.17185	CGC		0.507	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		A	55331309	G	A	55331309	3	1	365	1	0	0	0	0	1	0	0	0	8320	1087	38	1	511	1	KIR3DL1	19	55331309	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	24394931	55331309	3797674	101	20145											
EIF6	3692	genome.wustl.edu	37	20	33867912	33867912	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr20:33867912C>G	ENST00000374450.3	-	5	643	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	EIF6_ENST00000374436.3_Missense_Mutation_p.E127Q|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_5'Flank|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.E108Q|EIF6_ENST00000462894.1_5'UTR|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000435366.1_RNA	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCAGAATTTCTTCTGTCTCC	0.517																																																0			20											105	100	102					20																	33867912		2203	4300	6503	33331326	SO:0001583	missense	3692			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"integrin beta 4 binding protein"	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.379G>C	20.37:g.33867912C>G	ENSP00000363574:p.Glu127Gln		33331326		Missense_Mutation	SNP	ENST00000374450.3	37	CCDS13249.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697079	0.68386	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	4.86	4.86	0.63082	.	0.098253	0.64402	D	0.000002	T	0.79009	0.4374	M	0.83118	2.625	0.58432	D	0.999992	D;P	0.60575	0.988;0.835	D;P	0.63877	0.919;0.646	T	0.82362	-0.0495	9	0.66056	D	0.02	-18.4085	15.5555	0.76189	0.0:1.0:0.0:0.0	.	108;127	B7ZBG9;P56537	.;IF6_HUMAN	Q	127;108;127	.	ENSP00000363559:E127Q	E	-	1	0	EIF6	33331326	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.578000	0.82498	2.447000	0.82792	0.555000	0.69702	GAA		0.517	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078848.3	NM_002212		G	33867912	C	G	33867912	3	3	365	1	0	0	0	0	1	0	0	0	5045	922	32	3	370	3	EIF6	20	33867912	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09		33867912	29157608	102	20146											
TUBB1	81027	genome.wustl.edu	37	20	57599631	57599631	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr20:57599631G>T	ENST00000217133.1	+	4	1418	c.1149G>T	c.(1147-1149)gaG>gaT	p.E383D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	383					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGGTCTCTGAGCATTTCTCAG	0.512																																																0			20											52	48	49					20																	57599631		2203	4300	6503	57033026	SO:0001583	missense	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1149G>T	20.37:g.57599631G>T	ENSP00000217133:p.Glu383Asp		57033026		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390124	0.42410	.	.	ENSG00000101162	ENST00000217133	D	0.83992	-1.79	5.54	4.53	0.55603	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.136559	0.64402	D	0.000003	T	0.68247	0.2980	N	0.20986	0.625	0.54753	D	0.999983	B	0.02656	0.0	B	0.09377	0.004	T	0.66472	-0.5915	10	0.87932	D	0	.	3.5787	0.07943	0.092:0.1693:0.5631:0.1756	.	383	Q9H4B7	TBB1_HUMAN	D	383	ENSP00000217133:E383D	ENSP00000217133:E383D	E	+	3	2	TUBB1	57033026	1.000000	0.71417	0.981000	0.43875	0.797000	0.45037	2.557000	0.45871	2.614000	0.88457	0.655000	0.94253	GAG		0.512	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		T	57599631	G	T	57599631	3	4	365	1	0	0	0	0	1	0	0	0	16753	962	34	3	1163	3	TUBB1	20	57599631	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	23731719	57599631	5425889	103	20147											
EDN3	1908	genome.wustl.edu	37	20	57896087	57896087	+	Silent	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr20:57896087T>C	ENST00000337938.2	+	3	767	c.381T>C	c.(379-381)taT>taC	p.Y127Y	EDN3_ENST00000395654.3_Silent_p.Y127Y|EDN3_ENST00000371025.3_Silent_p.Y127Y|EDN3_ENST00000371028.2_Silent_p.Y127Y|EDN3_ENST00000311585.7_Silent_p.Y127Y	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	127			Y -> C (in WS4B). {ECO:0000269|PubMed:12189494}.		blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGGTGCCCTATGGACTGTCCA	0.617																																																0			20											86	74	78					20																	57896087		2203	4300	6503	57329482	SO:0001819	synonymous_variant	1908			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"Endogenous ligands"	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.381T>C	20.37:g.57896087T>C			57329482	E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	ENST00000337938.2	37	CCDS13477.1																																																																																				0.617	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		C	57896087	T	C	57896087	2	2	365	1	0	0	0	0	0	0	0	1	4918	1471	51	4		4	EDN3	20	57896087	Silent	SNP	T	TCGA-30-1855-01A-01W-0639-09	296456	57896087	5129433	104	20148											
SIM2	6493	genome.wustl.edu	37	21	38098468	38098468	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr21:38098468A>T	ENST00000290399.6	+	6	1205	c.592A>T	c.(592-594)Atg>Ttg	p.M198L	SIM2_ENST00000430056.3_Missense_Mutation_p.M198L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	198					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TATGCTGGACATGTCCCTGTA	0.592																																																0			21											128	118	121					21																	38098468		2203	4300	6503	37020338	SO:0001583	missense	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.592A>T	21.37:g.38098468A>T	ENSP00000290399:p.Met198Leu		37020338	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.46|12.46	1.944899|1.944899	0.34283|0.34283	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000431229|ENST00000290399;ENST00000430056	.|T;T	.|0.68903	.|-0.36;-0.36	5.44|5.44	1.73|1.73	0.24493|0.24493	.|.	.|0.206208	.|0.64402	.|N	.|0.000019	T|T	0.46171|0.46171	0.1379|0.1379	L|L	0.27053|0.27053	0.805|0.805	0.29718|0.29718	N|N	0.838903|0.838903	.|B;B	.|0.13145	.|0.007;0.001	.|B;B	.|0.13407	.|0.009;0.008	T|T	0.29181|0.29181	-1.0020|-1.0020	5|10	.|0.21014	.|T	.|0.42	.|.	6.6556|6.6556	0.22986|0.22986	0.7327:0.1302:0.137:0.0|0.7327:0.1302:0.137:0.0	.|.	.|198;198	.|Q14190;Q14190-2	.|SIM2_HUMAN;.	L|L	135|198	.|ENSP00000290399:M198L;ENSP00000404176:M198L	.|ENSP00000290399:M198L	H|M	+|+	2|1	0|0	SIM2|SIM2	37020338|37020338	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.288000|1.288000	0.33296|0.33296	0.429000|0.429000	0.26202|0.26202	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.592	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		T	38098468	A	T	38098468	3	4	365	1	0	0	0	0	1	0	0	0	14327	217	8	5	614	5	SIM2	21	38098468	Missense_Mutation	SNP	A	TCGA-30-1855-01A-01W-0639-09		38098468	10031427	105	20149											
PFKFB1	5207	genome.wustl.edu	37	X	54960256	54960256	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chrX:54960256C>G	ENST00000375006.3	-	13	1424	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E252Q|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E387Q	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	452	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCACCTACCTCAGGCTTCTCC	0.557																																																0			X											80	58	65					X																	54960256		2203	4300	6503	54976981	SO:0001583	missense	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1354G>C	X.37:g.54960256C>G	ENSP00000364145:p.Glu452Gln		54976981	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334490	0.24253	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.27	3.32	0.38043	.	0.367615	0.31257	N	0.007970	T	0.34193	0.0889	L	0.33485	1.01	0.37005	D	0.895461	B;B;B	0.13145	0.0;0.007;0.0	B;B;B	0.12837	0.001;0.008;0.001	T	0.19910	-1.0291	9	0.13470	T	0.59	-14.8993	6.5868	0.22624	0.1759:0.5222:0.3019:0.0	.	387;252;452	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	Q	452;387;252	.	ENSP00000364131:E252Q	E	-	1	0	PFKFB1	54976981	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.343000	0.33930	1.886000	0.54624	0.525000	0.51046	GAG		0.557	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			G	54960256	C	G	54960256	3	3	365	1	0	0	0	0	1	0	0	0	11760	835	29	3	69	3	PFKFB1	23	54960256	Missense_Mutation	SNP	C	TCGA-30-1855-01A-01W-0639-09		54960256	100310304	106	20150											
IDS	3423	genome.wustl.edu	37	X	148568525	148568525	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chrX:148568525G>C	ENST00000340855.6	-	8	1320	c.1111C>G	c.(1111-1113)Ccg>Gcg	p.P371A	IDS_ENST00000490775.1_5'Flank|IDS_ENST00000541269.1_Missense_Mutation_p.P160A|IDS_ENST00000422081.2_Missense_Mutation_p.P160A|IDS_ENST00000537071.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	371					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTGCCTCCGGAAGTGAAGCC	0.468																																																0			X											87	79	82					X																	148568525		2203	4300	6503	148376430	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1111C>G	X.37:g.148568525G>C	ENSP00000339801:p.Pro371Ala		148376430	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	g	4.309	0.056590	0.08291	.	.	ENSG00000010404	ENST00000340855;ENST00000541269	D;D	0.99409	-5.6;-5.85	5.27	3.38	0.38709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.727482	0.13916	N	0.353875	D	0.95348	0.8490	N	0.04297	-0.235	0.09310	N	0.999998	B;B	0.12013	0.0;0.005	B;B	0.18263	0.004;0.021	D	0.90504	0.4476	10	0.11794	T	0.64	.	4.7319	0.12968	0.0907:0.2205:0.5616:0.1272	.	281;371	B4DGD7;P22304	.;IDS_HUMAN	A	371;160	ENSP00000339801:P371A;ENSP00000441261:P160A	ENSP00000339801:P371A	P	-	1	0	IDS	148376430	0.018000	0.18449	0.170000	0.22879	0.070000	0.16714	0.684000	0.25364	2.356000	0.79943	0.525000	0.51046	CCG		0.468	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			C	148568525	G	C	148568525	3	2	365	1	0	0	0	0	1	0	0	0	7503	1174	41	3	549	3	IDS	23	148568525	Missense_Mutation	SNP	G	TCGA-30-1855-01A-01W-0639-09	93608269	148568525	6702035	107	20151											
C1orf174	339448	genome.wustl.edu	37	1	3807326	3807326	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:3807326G>A	ENST00000361605.3	-	3	523	c.425C>T	c.(424-426)cCa>cTa	p.P142L	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	142						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		ACTGTGTTTTGGCACGGACAG	0.567																																																0			1											87	79	82					1																	3807326		2203	4300	6503	3797186	SO:0001583	missense	339448			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.425C>T	1.37:g.3807326G>A	ENSP00000355306:p.Pro142Leu		3797186	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	CCDS53.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646407	0.29246	.	.	ENSG00000198912	ENST00000361605	T	0.06218	3.33	4.52	0.568	0.17333	.	1.051930	0.07411	N	0.892453	T	0.07413	0.0187	L	0.59436	1.845	0.09310	N	0.999994	B	0.25390	0.125	B	0.26202	0.067	T	0.44817	-0.9303	10	0.62326	D	0.03	-5.8318	1.184	0.01851	0.1892:0.1838:0.4376:0.1894	.	142	Q8IYL3	CA174_HUMAN	L	142	ENSP00000355306:P142L	ENSP00000355306:P142L	P	-	2	0	C1orf174	3797186	0.016000	0.18221	0.000000	0.03702	0.003000	0.03518	0.722000	0.25925	-0.071000	0.12886	0.563000	0.77884	CCA		0.567	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		A	3807326	G	A	3807326	3	1	366	1	0	0	0	0	1	0	0	0	2015	1348	47	2	314	2	C1orf174	1	3807326	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09		3807326	245443295	1	20152											
DDI2	84301	genome.wustl.edu	37	1	15953195	15953195	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:15953195A>G	ENST00000480945.1	+	2	341	c.170A>G	c.(169-171)aAc>aGc	p.N57S		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTCACAGACAACCACAGATCA	0.458																																																0			1											199	185	190					1																	15953195		2203	4300	6503	15825782	SO:0001583	missense	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.170A>G	1.37:g.15953195A>G	ENSP00000417748:p.Asn57Ser		15825782	A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373035	0.61624	.	.	ENSG00000197312	ENST00000480945	T	0.73681	-0.77	5.53	5.53	0.82687	Ubiquitin supergroup (1);Ubiquitin (1);	0.183753	0.46758	U	0.000265	T	0.67933	0.2946	L	0.41824	1.3	0.43226	D	0.995115	B	0.28933	0.228	B	0.30251	0.113	T	0.66168	-0.5991	10	0.40728	T	0.16	-19.9113	15.3325	0.74226	1.0:0.0:0.0:0.0	.	57	Q5TDH0	DDI2_HUMAN	S	57	ENSP00000417748:N57S	ENSP00000417748:N57S	N	+	2	0	DDI2	15825782	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.424000	0.52764	2.097000	0.63578	0.374000	0.22700	AAC		0.458	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		G	15953195	A	G	15953195	3	3	366	1	0	0	0	0	1	0	0	0	4329	43	2	4	176	4	DDI2	1	15953195	Missense_Mutation	SNP	A	TCGA-30-1856-01A-01W-0639-09	12145869	15953195	233297426	2	20153											
PADI2	11240	genome.wustl.edu	37	1	17422439	17422439	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:17422439G>A	ENST00000375486.4	-	4	439	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	PADI2_ENST00000375481.1_Missense_Mutation_p.R126W|PADI2_ENST00000444885.2_Missense_Mutation_p.R126W	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	126					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACACCATCCCGGTCTGCGTCC	0.612																																																0			1											185	160	169					1																	17422439		2203	4300	6503	17295026	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.376C>T	1.37:g.17422439G>A	ENSP00000364635:p.Arg126Trp		17295026	Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	CCDS177.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888135	0.91814	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.26067	1.76;2.09;1.76	6.08	6.08	0.98989	Protein-arginine deiminase (PAD), central domain (2);	0.052253	0.85682	D	0.000000	T	0.56543	0.1992	M	0.82323	2.585	0.31844	N	0.62314	D;D	0.89917	1.0;0.999	D;D	0.69654	0.965;0.941	T	0.64249	-0.6452	10	0.87932	D	0	-34.4729	19.2272	0.93822	0.0:0.0:1.0:0.0	.	126;126	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	W	126	ENSP00000364635:R126W;ENSP00000405894:R126W;ENSP00000364630:R126W	ENSP00000364630:R126W	R	-	1	2	PADI2	17295026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.135000	0.57997	2.894000	0.99253	0.655000	0.94253	CGG		0.612	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			A	17422439	G	A	17422439	3	1	366	1	0	0	0	0	1	0	0	0	11378	1115	39	1	1673	1	PADI2	1	17422439	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	1469244	17422439	231828182	3	20154											
ADC	113451	genome.wustl.edu	37	1	33583593	33583593	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:33583593C>T	ENST00000294517.6	+	11	1707	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	ADC_ENST00000373443.3_Missense_Mutation_p.P374S|ADC_ENST00000398167.1_Missense_Mutation_p.P394S|ADC_ENST00000373441.1_Missense_Mutation_p.P394S|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		374					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)			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)	CCTGTGGCTGCCGCAACTACA	0.627																																																0			1											68	77	74					1																	33583593		2203	4299	6502	33356180	SO:0001583	missense	113451																														ENST00000294517.6:c.1120C>T	1.37:g.33583593C>T	ENSP00000294517:p.Pro374Ser		33356180	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	CCDS375.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340969	0.60963	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.92	4.0	0.46444	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.64402	D	0.000012	T	0.73690	0.3619	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78272	-0.2268	10	0.87932	D	0	-21.2337	12.651	0.56761	0.0:0.9173:0.0:0.0827	.	394;279;374	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	S	374;374;394;394	ENSP00000294517:P374S;ENSP00000362542:P374S;ENSP00000381233:P394S;ENSP00000362540:P394S	ENSP00000294517:P374S	P	+	1	0	ADC	33356180	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	7.516000	0.81772	1.198000	0.43158	-0.216000	0.12614	CCG		0.627	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			T	33583593	C	T	33583593	3	4	366	1	0	0	0	0	1	0	0	0	287	739	26	2	1150	2	ADC	1	33583593	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09	16161154	33583593	215667028	4	20155											
NBPF15	284565	genome.wustl.edu	37	1	148582430	148582430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:148582430C>T	ENST00000369187.3	+	9	1153	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	NBPF15_ENST00000442702.2_Nonsense_Mutation_p.Q222*|NBPF15_ENST00000464336.2_3'UTR	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	222	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TGACTCCAACCAGCCACATAA	0.463																																																0			1											1	1	1					1																	148582430		69	212	281	146849054	SO:0001587	stop_gained	284565			BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.664C>T	1.37:g.148582430C>T	ENSP00000358188:p.Gln222*		146849054	Q3BBV9|Q8IX77	Nonsense_Mutation	SNP	ENST00000369187.3	37	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.847928	0.91277	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	.	.	.	0.566	0.566	0.17317	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	.	.	.	.	.	.	.	X	222	.	ENSP00000358188:Q222X	Q	+	1	0	NBPF15	146849054	0.002000	0.14202	0.022000	0.16811	0.012000	0.07955	0.218000	0.17622	0.571000	0.29365	0.184000	0.17185	CAG		0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		T	148582430	C	T	148582430	4	4	366	1	0	0	0	0	0	1	0	0	10195	595	21	2	682	2	NBPF15	1	148582430	Nonsense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09	114998837	148582430	100668191	5	20156											
LHX9	56956	genome.wustl.edu	37	1	197889289	197889289	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:197889289A>G	ENST00000367387.4	+	2	787	c.362A>G	c.(361-363)aAg>aGg	p.K121R	LHX9_ENST00000367391.1_Missense_Mutation_p.K112R|LHX9_ENST00000337020.2_Missense_Mutation_p.K121R|LHX9_ENST00000367390.3_Missense_Mutation_p.K112R|LHX9_ENST00000561173.1_Missense_Mutation_p.K127R	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	121	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ATTTACTGCAAGGAGGATTAC	0.577																																																0			1											163	153	156					1																	197889289		2203	4300	6503	196155912	SO:0001583	missense	56956			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.362A>G	1.37:g.197889289A>G	ENSP00000356357:p.Lys121Arg		196155912	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.479835	0.63849	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.61	5.61	0.85477	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88548	0.6466	L	0.35644	1.08	0.80722	D	1	P;P;P	0.44429	0.685;0.808;0.835	P;B;P	0.50049	0.629;0.283;0.495	D	0.88822	0.3299	10	0.49607	T	0.09	.	15.283	0.73801	1.0:0.0:0.0:0.0	.	121;112;112	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	R	112;112;121;121	ENSP00000356361:K112R;ENSP00000356360:K112R;ENSP00000337969:K121R;ENSP00000356357:K121R	ENSP00000337969:K121R	K	+	2	0	LHX9	196155912	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.902000	0.92568	2.254000	0.74563	0.533000	0.62120	AAG		0.577	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		G	197889289	A	G	197889289	3	3	366	1	0	0	0	0	1	0	0	0	8777	72	3	4	400	4	LHX9	1	197889289	Missense_Mutation	SNP	A	TCGA-30-1856-01A-01W-0639-09	49306859	197889289	51361332	6	20157											
RPS6KC1	26750	genome.wustl.edu	37	1	213415047	213415047	+	Missense_Mutation	SNP	C	C	T	rs566102618		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:213415047C>T	ENST00000366960.3	+	11	2378	c.2228C>T	c.(2227-2229)gCa>gTa	p.A743V	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A446V|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A531V|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A731V	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	743					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAATGCCAAGCACATGAGGAG	0.418																																																0			1											69	65	67					1																	213415047		2203	4300	6503	211481670	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2228C>T	1.37:g.213415047C>T	ENSP00000355927:p.Ala743Val		211481670	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	1.841	-0.467369	0.04476	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.43688	1.36;1.4;1.4;0.94	5.62	1.22	0.21188	.	0.799854	0.11936	N	0.515256	T	0.32496	0.0831	L	0.47716	1.5	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.012	B;B;B	0.17979	0.02;0.005;0.005	T	0.27606	-1.0069	10	0.45353	T	0.12	-33.4701	5.1704	0.15107	0.1003:0.4539:0.3119:0.1339	.	531;743;731	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	V	531;743;731;446	ENSP00000442306:A531V;ENSP00000355927:A743V;ENSP00000355926:A731V;ENSP00000439282:A446V	ENSP00000355926:A731V	A	+	2	0	RPS6KC1	211481670	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.025000	0.12413	0.308000	0.22923	0.650000	0.86243	GCA		0.418	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		T	213415047	C	T	213415047	3	4	366	1	0	0	0	0	1	0	0	0	13661	710	25	2	2270	2	RPS6KC1	1	213415047	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09	15525758	213415047	35835574	7	20158											
OBSCN	84033	genome.wustl.edu	37	1	228479627	228479627	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:228479627G>A	ENST00000422127.1	+	39	10412	c.10368G>A	c.(10366-10368)ctG>ctA	p.L3456L	OBSCN_ENST00000366707.4_Silent_p.L575L|OBSCN_ENST00000359599.6_Silent_p.L2303L|OBSCN_ENST00000366709.4_Silent_p.L575L|OBSCN_ENST00000570156.2_Silent_p.L3885L|OBSCN_ENST00000284548.11_Silent_p.L3456L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3456	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGAGGGTCTGAGGAATGAAG	0.587																																																0			1											40	39	40					1																	228479627		1930	4140	6070	226546250	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10368G>A	1.37:g.228479627G>A			226546250	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																				0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228479627	G	A	228479627	2	1	366	1	0	0	0	0	0	0	0	1	10812	1277	45	2		2	OBSCN	1	228479627	Silent	SNP	G	TCGA-30-1856-01A-01W-0639-09	15064580	228479627	20770994	8	20159											
GALNT14	79623	genome.wustl.edu	37	2	31168707	31168707	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:31168707G>A	ENST00000349752.5	-	7	1323	c.684C>T	c.(682-684)atC>atT	p.I228I	GALNT14_ENST00000406653.1_Silent_p.I208I|GALNT14_ENST00000420311.2_Silent_p.I193I|GALNT14_ENST00000324589.5_Silent_p.I233I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.I195I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	228					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TAATGATATCGATCACAGGGC	0.552																																																0			2											103	82	89					2																	31168707		2203	4300	6503	31022211	SO:0001819	synonymous_variant	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.684C>T	2.37:g.31168707G>A			31022211	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	CCDS1773.2																																																																																				0.552	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		A	31168707	G	A	31168707	2	1	366	1	0	0	0	0	0	0	0	1	6212	1048	37	1		1	GALNT14	2	31168707	Silent	SNP	G	TCGA-30-1856-01A-01W-0639-09		31168707	212030666	9	20160											
THSD7B	80731	genome.wustl.edu	37	2	138400154	138400154	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:138400154C>G	ENST00000409968.1	+	21	4074	c.3896C>G	c.(3895-3897)aCc>aGc	p.T1299S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1271S|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1302S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1301	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCCAGTGACCCCCTGCTAC	0.488																																																0			2											81	85	84					2																	138400154		1895	4111	6006	138116624	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3896C>G	2.37:g.138400154C>G	ENSP00000387145:p.Thr1299Ser		138116624		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	9.967	1.224517	0.22457	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.51817	0.69;0.69;0.69	5.33	3.34	0.38264	.	0.317244	0.38548	N	0.001651	T	0.17023	0.0409	N	0.02181	-0.65	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08249	-1.0731	10	0.09338	T	0.73	.	7.6557	0.28373	0.3235:0.545:0.1316:0.0	.	1271	C9JKN6	.	S	1299;1302;1271	ENSP00000387145:T1299S;ENSP00000272643:T1302S;ENSP00000413841:T1271S	ENSP00000272643:T1302S	T	+	2	0	THSD7B	138116624	0.876000	0.30132	1.000000	0.80357	0.999000	0.98932	0.827000	0.27421	1.438000	0.47492	0.655000	0.94253	ACC		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		G	138400154	C	G	138400154	3	3	366	1	0	0	0	0	1	0	0	0	15880	507	18	3	3886	3	THSD7B	2	138400154	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09	107231447	138400154	104799219	10	20161											
BAZ2B	29994	genome.wustl.edu	37	2	160310175	160310175	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:160310175G>C	ENST00000392783.2	-	4	778	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	BAZ2B_ENST00000343439.5_Missense_Mutation_p.L95V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L95V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L95V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	95				L -> G (in Ref. 6; AAH12576). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGTGTACCAAGTGTCCCCAAA	0.507																																																0			2											107	106	106					2																	160310175		1953	4155	6108	160018421	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.283C>G	2.37:g.160310175G>C	ENSP00000376534:p.Leu95Val		160018421	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957242	0.53400	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000437839	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.29	5.29	0.74685	.	.	.	.	.	T	0.62986	0.2473	L	0.59436	1.845	0.29818	N	0.831061	D;D;D;D	0.67145	0.99;0.996;0.996;0.993	D;D;D;D	0.80764	0.979;0.994;0.994;0.987	T	0.61992	-0.6948	9	0.72032	D	0.01	-6.3533	17.6945	0.88277	0.0:0.0:1.0:0.0	.	95;95;95;95	Q6MZK7;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;BAZ2B_HUMAN	V	95	ENSP00000376533:L95V;ENSP00000376534:L95V;ENSP00000348087:L95V;ENSP00000339670:L95V;ENSP00000415613:L95V	ENSP00000339670:L95V	L	-	1	0	BAZ2B	160018421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.633000	0.67825	2.474000	0.83562	0.655000	0.94253	CTT		0.507	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			C	160310175	G	C	160310175	3	2	366	1	0	0	0	0	1	0	0	0	1332	1029	36	3	6359	3	BAZ2B	2	160310175	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	21910021	160310175	82889198	11	20162											
CHN1	1123	genome.wustl.edu	37	2	175742580	175742580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:175742580delC	ENST00000409900.3	-	6	850	c.537delG	c.(535-537)gtgfs	p.V179fs	CHN1_ENST00000409156.3_Frame_Shift_Del_p.V179fs|CHN1_ENST00000488080.1_Intron	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	179					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTTTCTCTGACACCCCATCCT	0.398			T	TAF15	extraskeletal myxoid chondrosarcoma																																		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0			2											93	85	88					2																	175742580		1866	4095	5961	175450826	SO:0001589	frameshift_variant	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.537delG	2.37:g.175742580delC	ENSP00000386741:p.Val179fs		175450826	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Frame_Shift_Del	DEL	ENST00000409900.3	37	CCDS46455.1																																																																																				0.398	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		-	175742580	C	-	175742580	7	5	366	1	0	1	0	1	0	0	0	0	3362	465	17	0	874	0	CHN1	2	175742580	Frame_Shift_Del	DEL	C	TCGA-30-1856-01A-01W-0639-09	15432405	175742580	67456793	12	20163											
TTN	7273	genome.wustl.edu	37	2	179486304	179486304	+	Missense_Mutation	SNP	G	G	A	rs199834143		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:179486304G>A	ENST00000591111.1	-	195	40548	c.40324C>T	c.(40324-40326)Cgg>Tgg	p.R13442W	TTN_ENST00000342992.6_Missense_Mutation_p.R12515W|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6143W|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6018W|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6210W|TTN_ENST00000589042.1_Missense_Mutation_p.R15083W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13442	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTCTTCCGTCCTTCAGTC	0.463																																																0			2											138	136	137					2																	179486304		2000	4177	6177	179194549	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40324C>T	2.37:g.179486304G>A	ENSP00000465570:p.Arg13442Trp		179194549	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.41	1.630954	0.28978	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.17	4.23	0.50019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82421	0.5033	M	0.79926	2.475	0.28107	N	0.931148	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.77715	-0.2484	9	0.87932	D	0	.	15.2814	0.73787	0.0:0.0:0.3363:0.6637	.	6018;6143;6210;13442	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	12515;6018;6210;6143;6018	ENSP00000343764:R12515W;ENSP00000434586:R6018W;ENSP00000340554:R6210W;ENSP00000352154:R6143W	ENSP00000340554:R6210W	R	-	1	2	TTN	179194549	0.970000	0.33590	0.986000	0.45419	0.978000	0.69477	2.040000	0.41203	0.762000	0.33152	0.655000	0.94253	CGG		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179486304	G	A	179486304	3	1	366	1	0	0	0	0	1	0	0	0	16735	1144	40	1	62918	1	TTN	2	179486304	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	3743724	179486304	63713069	13	20164											
PGAP1	80055	genome.wustl.edu	37	2	197755566	197755566	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:197755566G>T	ENST00000354764.4	-	10	1273	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K	PGAP1_ENST00000485830.1_5'Flank|PGAP1_ENST00000409188.1_3'UTR|PGAP1_ENST00000409475.1_Missense_Mutation_p.Q387K	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	387					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATAGTGCTCTGACAATAGACA	0.308																																																0			2											68	73	71					2																	197755566		2200	4290	6490	197463811	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1159C>A	2.37:g.197755566G>T	ENSP00000346809:p.Gln387Lys		197463811	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	7.178	0.588932	0.13812	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.51	4.51	0.55191	.	0.194957	0.46442	D	0.000282	T	0.28665	0.0710	N	0.14661	0.345	0.80722	D	1	B;B	0.28933	0.228;0.131	B;B	0.24394	0.053;0.039	T	0.13575	-1.0504	9	0.06365	T	0.9	-7.7498	10.8814	0.46939	0.0:0.1908:0.8092:0.0	.	387;387	Q75T13-3;Q75T13	.;PGAP1_HUMAN	K	167;387;387;167	.	ENSP00000346809:Q387K	Q	-	1	0	PGAP1	197463811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.110000	0.57831	2.473000	0.83533	0.650000	0.86243	CAG		0.308	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		T	197755566	G	T	197755566	3	4	366	1	0	0	0	0	1	0	0	0	11777	1299	45	3	1681	3	PGAP1	2	197755566	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	18269262	197755566	45443807	14	20165											
PECR	55825	genome.wustl.edu	37	2	216931241	216931241	+	Splice_Site	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:216931241C>T	ENST00000265322.7	-	2	199	c.125G>A	c.(124-126)gGg>gAg	p.G42E	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	42					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CACATTACTCCCTGAGGAGAA	0.458																																																0			2											122	107	112					2																	216931241		2203	4300	6503	216639486	SO:0001630	splice_region_variant	55825			AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18281	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 29C, member 1"	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.125-1G>A	2.37:g.216931241C>T			216639486	B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115153	0.94339	.	.	ENSG00000115425	ENST00000265322	T	0.65916	-0.18	4.79	2.95	0.34219	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	H	0.97440	4.005	0.80722	D	1	D;D	0.61697	0.99;0.975	P;P	0.59703	0.862;0.859	D	0.85522	0.1204	10	0.72032	D	0.01	.	9.5939	0.39563	0.0:0.8204:0.0:0.1796	.	42;42	B4DJS2;Q9BY49	.;PECR_HUMAN	E	42	ENSP00000265322:G42E	ENSP00000265322:G42E	G	-	2	0	PECR	216639486	0.990000	0.36364	0.663000	0.29738	0.853000	0.48598	2.942000	0.49018	1.230000	0.43646	0.591000	0.81541	GGG		0.458	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441	Missense_Mutation	T	216931241	C	T	216931241	5	4	366	1	0	0	0	0	0	0	1	0	11717	637	22	2	814	2	PECR	2	216931241	Splice_Site	SNP	C	TCGA-30-1856-01A-01W-0639-09	19175675	216931241	26268132	15	20166											
MYH15	22989	genome.wustl.edu	37	3	108163528	108163528	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr3:108163528G>A	ENST00000273353.3	-	23	2730	c.2674C>T	c.(2674-2676)Ctc>Ttc	p.L892F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	892						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCTGAGTGAGGGATACTTGC	0.413																																																0			3											112	104	106					3																	108163528		1874	4113	5987	109646218	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2674C>T	3.37:g.108163528G>A	ENSP00000273353:p.Leu892Phe		109646218		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927277	0.34002	.	.	ENSG00000144821	ENST00000273353	D	0.87179	-2.22	4.91	4.04	0.47022	.	.	.	.	.	D	0.86301	0.5900	M	0.80332	2.49	0.43126	D	0.994859	B	0.18741	0.03	B	0.24394	0.053	D	0.83549	0.0100	9	0.52906	T	0.07	.	8.216	0.31511	0.2599:0.0:0.7401:0.0	.	892	Q9Y2K3	MYH15_HUMAN	F	892	ENSP00000273353:L892F	ENSP00000273353:L892F	L	-	1	0	MYH15	109646218	1.000000	0.71417	0.219000	0.23793	0.966000	0.64601	1.496000	0.35638	1.202000	0.43218	0.650000	0.86243	CTC		0.413	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		A	108163528	G	A	108163528	3	1	366	1	0	0	0	0	1	0	0	0	10034	1000	35	2	3246	2	MYH15	3	108163528	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09		108163528	89858902	16	20167											
MBNL1	4154	genome.wustl.edu	37	3	152150554	152150554	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr3:152150554G>T	ENST00000463374.1	+	3	905	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	MBNL1_ENST00000492948.1_Missense_Mutation_p.A132S|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132S|MBNL1_ENST00000324210.5_Missense_Mutation_p.A132S|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132S|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132S|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Missense_Mutation_p.A132S|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75S|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132S	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	132					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAGCAGCCGCCTTTAATCC	0.473																																																0			3											142	156	152					3																	152150554		2203	4300	6503	153633244	SO:0001583	missense	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.394G>T	3.37:g.152150554G>T	ENSP00000418108:p.Ala132Ser		153633244	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235452	0.39498	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	N	0.24115	0.695	0.45129	D	0.998144	D;B;B;D;B;P;D	0.64830	0.994;0.288;0.078;0.988;0.004;0.757;0.977	P;B;B;P;B;B;P	0.62089	0.898;0.074;0.054;0.826;0.024;0.394;0.729	T	0.49021	-0.8982	10	0.15952	T	0.53	.	18.3327	0.90276	0.0:0.0:1.0:0.0	.	132;132;132;132;75;132;132	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	S	132;132;40;75;132;40;132;132;132;132;132;132;35	ENSP00000282486:A132S;ENSP00000347637:A132S;ENSP00000417741:A40S;ENSP00000419347:A75S;ENSP00000319429:A132S;ENSP00000420680:A40S;ENSP00000420327:A132S;ENSP00000319374:A132S;ENSP00000350064:A132S;ENSP00000418108:A132S;ENSP00000420103:A132S;ENSP00000418876:A132S;ENSP00000418508:A35S	ENSP00000282486:A132S	A	+	1	0	MBNL1	153633244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.876000	0.75556	2.396000	0.81511	0.563000	0.77884	GCC		0.473	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		T	152150554	G	T	152150554	3	4	366	1	0	0	0	0	1	0	0	0	9353	1087	38	3	404	3	MBNL1	3	152150554	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	43987026	152150554	45871876	17	20168											
CCDC158	339965	genome.wustl.edu	37	4	77272902	77272902	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr4:77272902A>T	ENST00000388914.3	-	16	2661	c.2509T>A	c.(2509-2511)Tta>Ata	p.L837I		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	837										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGAAGTTTTAAGCGCACTGAT	0.328																																																0			4											152	132	138					4																	77272902		1873	4128	6001	77491926	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2509T>A	4.37:g.77272902A>T	ENSP00000373566:p.Leu837Ile		77491926	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336412	0.60963	.	.	ENSG00000163749	ENST00000388914	T	0.40476	1.03	5.86	3.76	0.43208	.	0.000000	0.46758	D	0.000278	T	0.32526	0.0832	L	0.27053	0.805	0.80722	D	1	P	0.51147	0.942	P	0.49953	0.627	T	0.05419	-1.0886	10	0.24483	T	0.36	.	5.4069	0.16326	0.3139:0.0:0.6861:0.0	.	837	Q5M9N0	CD158_HUMAN	I	837	ENSP00000373566:L837I	ENSP00000373566:L837I	L	-	1	2	CCDC158	77491926	0.998000	0.40836	1.000000	0.80357	0.763000	0.43281	1.376000	0.34306	1.598000	0.50083	-0.248000	0.11899	TTA		0.328	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		T	77272902	A	T	77272902	3	4	366	1	0	0	0	0	1	0	0	0	2790	69	3	5	868	5	CCDC158	4	77272902	Missense_Mutation	SNP	A	TCGA-30-1856-01A-01W-0639-09		77272902	113881374	18	20169											
NIPBL	25836	genome.wustl.edu	37	5	36986353	36986353	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr5:36986353delC	ENST00000282516.8	+	10	3570	c.3071delC	c.(3070-3072)tcafs	p.S1024fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.S1024fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1024					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAGGACAAATCAAGAAGTTCC	0.303																																																0			5	GRCh37	CM042801	NIPBL	M							81	92	88					5																	36986353		2203	4298	6501	37022110	SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3071delC	5.37:g.36986353delC	ENSP00000282516:p.Ser1024fs		37022110	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	CCDS3920.1																																																																																				0.303	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		-	36986353	C	-	36986353	7	5	366	1	0	1	0	1	0	0	0	0	10428	838	29	0	3105	0	NIPBL	5	36986353	Frame_Shift_Del	DEL	C	TCGA-30-1856-01A-01W-0639-09		36986353	143928907	19	20170											
PDLIM4	8572	genome.wustl.edu	37	5	131606686	131606686	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr5:131606686delC	ENST00000253754.3	+	4	470	c.406delC	c.(406-408)ccafs	p.P136fs	PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Del_p.P136fs|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	136							zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTGGGATCTCCATATGGACA	0.632																																																0			5											149	151	150					5																	131606686		2203	4300	6503	131634585	SO:0001589	frameshift_variant	8572			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.406delC	5.37:g.131606686delC	ENSP00000253754:p.Pro136fs		131634585	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Frame_Shift_Del	DEL	ENST00000253754.3	37	CCDS4152.1																																																																																				0.632	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		-	131606686	C	-	131606686	7	5	366	1	0	1	0	1	0	0	0	0	11682	855	30	0	420	0	PDLIM4	5	131606686	Frame_Shift_Del	DEL	C	TCGA-30-1856-01A-01W-0639-09	94620333	131606686	49308574	20	20171											
KCNQ5	56479	genome.wustl.edu	37	6	73787107	73787107	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr6:73787107G>A	ENST00000370398.1	+	4	788	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	KCNQ5_ENST00000355194.4_Missense_Mutation_p.A227T|KCNQ5_ENST00000370392.1_Missense_Mutation_p.A227T|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A227T|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A227T|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A227T|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A227T|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A227T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	227					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TAATATTTTTGCCACGTCTGC	0.458																																					GBM(142;1375 1859 14391 23261 44706)											0			6											106	98	101					6																	73787107		2203	4300	6503	73843828	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.679G>A	6.37:g.73787107G>A	ENSP00000359425:p.Ala227Thr		73843828	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	36	5.694970	0.96793	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;1.0;0.999;0.996;1.0;0.999	D;D;D;D;D;D	0.83275	0.92;0.994;0.991;0.986;0.996;0.987	D	0.99868	1.1092	10	0.87932	D	0	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	227;227;227;227;227;227	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	T	227	ENSP00000345055:A227T;ENSP00000347326:A227T;ENSP00000359425:A227T;ENSP00000359419:A227T;ENSP00000385501:A227T;ENSP00000347853:A227T;ENSP00000384453:A227T;ENSP00000409861:A227T	ENSP00000345055:A227T	A	+	1	0	KCNQ5	73843828	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.821000	0.97095	0.650000	0.86243	GCC		0.458	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		A	73787107	G	A	73787107	3	1	366	1	0	0	0	0	1	0	0	0	8086	1319	46	2	693	2	KCNQ5	6	73787107	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09		73787107	97327960	21	20172											
ETV1	2115	genome.wustl.edu	37	7	13935499	13935499	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:13935499C>T	ENST00000430479.1	-	14	2093	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	ETV1_ENST00000343495.5_Missense_Mutation_p.V458M|ETV1_ENST00000405192.2_Missense_Mutation_p.V453M|ETV1_ENST00000242066.5_Missense_Mutation_p.V458M|ETV1_ENST00000420159.2_Missense_Mutation_p.V418M|ETV1_ENST00000403685.1_Missense_Mutation_p.V458M|ETV1_ENST00000403527.1_Missense_Mutation_p.V436M|ETV1_ENST00000405358.4_Missense_Mutation_p.V490M|ETV1_ENST00000405218.2_Missense_Mutation_p.V476M|ETV1_ENST00000399357.3_Missense_Mutation_p.V373M	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	476					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTTAATACACGTAGCCTTCG	0.473			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	0			7											50	47	48					7																	13935499		1934	4143	6077	13902024	SO:0001583	missense	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1426G>A	7.37:g.13935499C>T	ENSP00000405327:p.Val476Met		13902024	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787483	0.70337	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.10192	2.92;2.9;2.9;2.91;2.9;2.93;2.9;2.92;2.92;2.9	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.37630	1.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D;P	0.81914	0.974;0.954;0.994;0.994;0.995;0.987;0.869	T	0.00501	-1.1702	10	0.44086	T	0.13	.	19.3223	0.94246	0.0:1.0:0.0:0.0	.	464;458;490;418;373;436;476	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	M	476;458;458;418;373;453;490;436;476;458	ENSP00000405327:V476M;ENSP00000242066:V458M;ENSP00000340853:V458M;ENSP00000411626:V418M;ENSP00000382293:V373M;ENSP00000385381:V453M;ENSP00000384085:V490M;ENSP00000384138:V436M;ENSP00000385551:V476M;ENSP00000385686:V458M	ENSP00000242066:V458M	V	-	1	0	ETV1	13902024	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	5.912000	0.69948	2.569000	0.86673	0.650000	0.86243	GTG		0.473	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		T	13935499	C	T	13935499	3	4	366	1	0	0	0	0	1	0	0	0	5277	536	19	1	11	1	ETV1	7	13935499	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09		13935499	145203164	22	20173											
SOSTDC1	25928	genome.wustl.edu	37	7	16505260	16505260	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:16505260G>C	ENST00000307068.4	-	1	214	c.34C>G	c.(34-36)Ccc>Gcc	p.P12A	SOSTDC1_ENST00000396652.1_Missense_Mutation_p.P12A	NM_015464.2	NP_056279.1	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	12				FYLLPLA -> LSLIPLL (in Ref. 3; AAQ83296). {ECO:0000305}.	hair follicle morphogenesis (GO:0031069)|mammary gland bud morphogenesis (GO:0060648)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell fate commitment (GO:0010454)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CATGCAAGGGGAAGGAGATAG	0.428																																																0			7											103	103	103					7																	16505260		2203	4300	6503	16471785	SO:0001583	missense	25928			AB059270	CCDS5360.1	7p21.2	2007-08-01			ENSG00000171243	ENSG00000171243			21748	protein-coding gene	gene with protein product	"ectodin"	609675					Standard	NM_015464		Approved	DKFZp564D206, USAG1	uc003stg.3	Q6X4U4	OTTHUMG00000090807	ENST00000307068.4:c.34C>G	7.37:g.16505260G>C	ENSP00000304930:p.Pro12Ala		16471785	A8MUA6|Q96HJ7|Q9Y3U3	Missense_Mutation	SNP	ENST00000307068.4	37	CCDS5360.1	.	.	.	.	.	.	.	.	.	.	G	7.061	0.566456	0.13560	.	.	ENSG00000171243	ENST00000307068;ENST00000396652	T;T	0.76968	-1.06;-1.06	5.93	4.12	0.48240	.	0.842485	0.10921	N	0.619466	T	0.57066	0.2028	N	0.08118	0	0.25198	N	0.99008	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.001	T	0.41680	-0.9495	10	0.16896	T	0.51	-2.5599	9.2785	0.37714	0.2706:0.0:0.7294:0.0	.	12;12	A8MUA6;Q6X4U4	.;SOSD1_HUMAN	A	12	ENSP00000304930:P12A;ENSP00000379889:P12A	ENSP00000304930:P12A	P	-	1	0	SOSTDC1	16471785	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.884000	0.39668	1.518000	0.48934	0.655000	0.94253	CCC		0.428	SOSTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207603.1	NM_015464		C	16505260	G	C	16505260	3	2	366	1	0	0	0	0	1	0	0	0	14942	1174	41	3	594	3	SOSTDC1	7	16505260	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	2569761	16505260	142633403	23	20174											
HECW1	23072	genome.wustl.edu	37	7	43484247	43484247	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:43484247G>A	ENST00000395891.2	+	11	2081	c.1476G>A	c.(1474-1476)acG>acA	p.T492T	HECW1_ENST00000453890.1_Silent_p.T492T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	492	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGAAGCAACGACCCAGAGCC	0.647																																																0			7											16	20	18					7																	43484247		2065	4193	6258	43450772	SO:0001819	synonymous_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1476G>A	7.37:g.43484247G>A			43450772	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2																																																																																				0.647	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43484247	G	A	43484247	2	1	366	1	0	0	0	0	0	0	0	1	7042	1045	37	1		1	HECW1	7	43484247	Silent	SNP	G	TCGA-30-1856-01A-01W-0639-09	26978987	43484247	115654416	24	20175											
TYW1B	441250	genome.wustl.edu	37	7	72277949	72277949	+	RNA	SNP	C	C	A	rs146105977	byFrequency	TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:72277949C>A	ENST00000435769.2	-	0	555				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TTTTTGCCAACCTGCGAGGAA	0.522																																																0			7											46	40	42					7																	72277949		692	1591	2283	71915885			0			BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72277949C>A			71915885	A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37																																																																																					0.522	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		A	72277949	C	A	72277949	1	1	366	0	1	0	0	0	0	0	0	0	16819	521	18	3		3	TYW1B	7	72277949	RNA	SNP	C	TCGA-30-1856-01A-01W-0639-09	28793702	72277949	86860714	25	20176											
SPAM1	6677	genome.wustl.edu	37	7	123593844	123593844	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:123593844T>C	ENST00000439500.1	+	4	833	c.220T>C	c.(220-222)Tct>Cct	p.S74P	SPAM1_ENST00000340011.5_Missense_Mutation_p.S74P|SPAM1_ENST00000460182.1_Missense_Mutation_p.S74P|SPAM1_ENST00000223028.7_Missense_Mutation_p.S74P|SPAM1_ENST00000402183.2_Missense_Mutation_p.S74P	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	74					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGCCTCTTCTCTTTCATAGG	0.433																																																0			7											44	43	43					7																	123593844		2203	4299	6502	123381080	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.220T>C	7.37:g.123593844T>C	ENSP00000402123:p.Ser74Pro		123381080	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	7.540	0.660518	0.14645	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.95	-0.851	0.10716	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.199030	0.46145	D	0.000314	T	0.23766	0.0575	L	0.56769	1.78	0.20926	N	0.999829	B;B	0.13145	0.003;0.007	B;B	0.22152	0.024;0.038	T	0.17349	-1.0372	10	0.40728	T	0.16	-23.4322	4.1934	0.10431	0.3181:0.2462:0.0:0.4357	.	74;74	Q8TC30;P38567	.;HYALP_HUMAN	P	74	ENSP00000386028:S74P;ENSP00000391491:S74P;ENSP00000417934:S74P;ENSP00000345849:S74P;ENSP00000402123:S74P;ENSP00000223028:S74P	ENSP00000223028:S74P	S	+	1	0	SPAM1	123381080	0.000000	0.05858	0.278000	0.24718	0.176000	0.22953	-0.362000	0.07602	-0.715000	0.04968	-3.208000	0.00054	TCT		0.433	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			C	123593844	T	C	123593844	3	2	366	1	0	0	0	0	1	0	0	0	14989	1551	54	4	222	4	SPAM1	7	123593844	Missense_Mutation	SNP	T	TCGA-30-1856-01A-01W-0639-09	51315895	123593844	35544819	26	20177											
CNTNAP2	26047	genome.wustl.edu	37	7	146829391	146829391	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:146829391G>A	ENST00000361727.3	+	8	1654	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	380					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTTTTCAACGCTACAAGTTA	0.463										HNSCC(39;0.1)																																						0			7											126	121	122					7																	146829391		2203	4300	6503	146460324	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1138G>A	7.37:g.146829391G>A	ENSP00000354778:p.Ala380Thr		146460324	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894940	0.72639	.	.	ENSG00000174469	ENST00000361727	T	0.79247	-1.25	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.088434	0.42420	D	0.000703	T	0.66208	0.2766	N	0.24115	0.695	0.80722	D	1	B	0.25809	0.135	B	0.23574	0.047	T	0.61564	-0.7037	10	0.13470	T	0.59	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	380	Q9UHC6	CNTP2_HUMAN	T	380	ENSP00000354778:A380T	ENSP00000354778:A380T	A	+	1	0	CNTNAP2	146460324	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.191000	0.65110	2.686000	0.91538	0.591000	0.81541	GCT		0.463	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	146829391	G	A	146829391	3	1	366	1	0	0	0	0	1	0	0	0	3647	1087	38	1	1168	1	CNTNAP2	7	146829391	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	23235547	146829391	12309272	27	20178											
NRG1	3084	genome.wustl.edu	37	8	32472042	32472042	+	Silent	SNP	T	T	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:32472042T>G	ENST00000405005.3	+	4	411	c.411T>G	c.(409-411)acT>acG	p.T137T	NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Silent_p.T137T|NRG1_ENST00000523079.1_Silent_p.T137T|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Silent_p.T137T|NRG1_ENST00000287842.3_Silent_p.T137T|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Silent_p.T137T|NRG1_ENST00000521670.1_Silent_p.T137T			Q02297	NRG1_HUMAN	neuregulin 1	137					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGATCATCACTGGTATGCCAG	0.428																																																0			8											116	114	115					8																	32472042		2203	4300	6503	32591584	SO:0001819	synonymous_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.411T>G	8.37:g.32472042T>G			32591584	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.335283	0.24253	.	.	ENSG00000157168	ENST00000518206	.	.	.	5.67	3.25	0.37280	.	.	.	.	.	T	0.53045	0.1772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47522	-0.9111	4	.	.	.	6.0E-4	5.3501	0.16030	0.0:0.089:0.1801:0.7308	.	.	.	.	R	16	.	.	L	+	2	0	NRG1	32591584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.410000	0.34691	1.044000	0.40200	0.533000	0.62120	CTG		0.428	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			G	32472042	T	G	32472042	2	3	366	1	0	0	0	0	0	0	0	1	10647	1567	55	5		5	NRG1	8	32472042	Silent	SNP	T	TCGA-30-1856-01A-01W-0639-09		32472042	113891980	28	20179											
KCNU1	157855	genome.wustl.edu	37	8	36790477	36790477	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:36790477G>T	ENST00000399881.3	+	26	3008	c.2971G>T	c.(2971-2973)Gat>Tat	p.D991Y		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	991					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGGCTCATTAGATCTTTTTGG	0.428																																																0			8											144	134	137					8																	36790477		1846	4100	5946	36909635	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2971G>T	8.37:g.36790477G>T	ENSP00000382770:p.Asp991Tyr		36909635		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	9.649	1.141037	0.21205	.	.	ENSG00000215262	ENST00000399881	T	0.32753	1.44	5.14	2.14	0.27477	.	0.495430	0.15900	U	0.239106	T	0.40372	0.1114	L	0.48642	1.525	0.09310	N	0.999998	D	0.71674	0.998	P	0.60789	0.879	T	0.16394	-1.0404	10	0.87932	D	0	-3.9376	7.6794	0.28505	0.2959:0.0:0.7041:0.0	.	991	A8MYU2	KCNU1_HUMAN	Y	991	ENSP00000382770:D991Y	ENSP00000382770:D991Y	D	+	1	0	KCNU1	36909635	0.991000	0.36638	0.020000	0.16555	0.032000	0.12392	0.783000	0.26802	0.196000	0.20367	0.655000	0.94253	GAT		0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		T	36790477	G	T	36790477	3	4	366	1	0	0	0	0	1	0	0	0	8093	942	33	3	3073	3	KCNU1	8	36790477	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	4318435	36790477	109573545	29	20180											
SNTG1	54212	genome.wustl.edu	37	8	51351160	51351160	+	Splice_Site	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:51351160G>T	ENST00000522124.1	+	5	880		c.e5+1		SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AAGCATAAAGGTAGCCTGCCT	0.388																																																0			8											95	78	84					8																	51351160		2202	4300	6502	51513713	SO:0001630	splice_region_variant	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.219+1G>T	8.37:g.51351160G>T			51513713	Q2M3Q0|Q9NY98	Splice_Site	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574131	0.65765	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.458	0.55716	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTG1	51513713	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.215000	0.65241	1.991000	0.58162	0.650000	0.86243	.		0.388	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		Intron	T	51351160	G	T	51351160	5	4	366	1	0	0	0	0	0	0	1	0	14877	1275	44	3	230	3	SNTG1	8	51351160	Splice_Site	SNP	G	TCGA-30-1856-01A-01W-0639-09	14560683	51351160	95012862	30	20181											
CYP7B1	9420	genome.wustl.edu	37	8	65528500	65528500	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:65528500C>T	ENST00000310193.3	-	3	771	c.598G>A	c.(598-600)Gtt>Att	p.V200I	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	200					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CAAACAATAACTTTTCCATAT	0.328																																																0			8											49	49	49					8																	65528500		2203	4299	6502	65691054	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.598G>A	8.37:g.65528500C>T	ENSP00000310721:p.Val200Ile		65691054	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.850046	0.00066	.	.	ENSG00000172817	ENST00000310193	D	0.84873	-1.91	5.32	-10.6	0.00265	.	5.857880	0.00550	N	0.000259	T	0.52757	0.1754	N	0.00677	-1.265	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.53648	-0.8409	9	.	.	.	-22.8096	4.3998	0.11381	0.3549:0.3119:0.2646:0.0685	.	200	O75881	CP7B1_HUMAN	I	200	ENSP00000310721:V200I	.	V	-	1	0	CYP7B1	65691054	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.749000	0.01824	-5.807000	0.00009	-1.990000	0.00449	GTT		0.328	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			T	65528500	C	T	65528500	3	4	366	1	0	0	0	0	1	0	0	0	4197	565	20	2	938	2	CYP7B1	8	65528500	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09	14177340	65528500	80835522	31	20182											
ENPP2	5168	genome.wustl.edu	37	8	120633758	120633758	+	Splice_Site	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:120633758G>T	ENST00000075322.6	-	4	352	c.294C>A	c.(292-294)gcC>gcA	p.A98A	ENPP2_ENST00000522826.1_Splice_Site_p.A98A|ENPP2_ENST00000259486.6_Splice_Site_p.A98A|ENPP2_ENST00000427067.2_Splice_Site_p.A94A	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	98	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCCAGCCACGGGCTAAAATCA	0.438																																					Melanoma(20;305 879 2501 4818 31020)											0			8											92	90	91					8																	120633758		2203	4300	6503	120702939	SO:0001630	splice_region_variant	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.293-1C>A	8.37:g.120633758G>T			120702939	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	CCDS34936.1																																																																																				0.438	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		Silent	T	120633758	G	T	120633758	5	4	366	1	0	0	0	0	0	0	1	0	5130	1246	43	3	2624	3	ENPP2	8	120633758	Splice_Site	SNP	G	TCGA-30-1856-01A-01W-0639-09	55105258	120633758	25730264	32	20183											
ZNF251	90987	genome.wustl.edu	37	8	145947669	145947669	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:145947669T>C	ENST00000292562.7	-	5	1651	c.1376A>G	c.(1375-1377)aAg>aGg	p.K459R	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	459					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTGGTAGGGCTTCTCCCCAGT	0.507																																																0			8											60	68	66					8																	145947669		2197	4300	6497	145918478	SO:0001583	missense	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1376A>G	8.37:g.145947669T>C	ENSP00000292562:p.Lys459Arg		145918478	Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500668	0.44455	.	.	ENSG00000198169	ENST00000292562	T	0.24908	1.83	2.15	2.15	0.27550	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	L	0.42529	1.33	0.28431	N	0.917256	B	0.32467	0.372	B	0.41691	0.364	T	0.30357	-0.9981	9	0.66056	D	0.02	-11.9304	9.5374	0.39231	0.0:0.0:0.0:1.0	.	459	Q9BRH9	ZN251_HUMAN	R	459	ENSP00000292562:K459R	ENSP00000292562:K459R	K	-	2	0	ZNF251	145918478	0.223000	0.23663	0.942000	0.38095	0.635000	0.38103	0.473000	0.22132	1.247000	0.43917	0.460000	0.39030	AAG		0.507	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		C	145947669	T	C	145947669	3	2	366	1	0	0	0	0	1	0	0	0	17796	1609	56	4	643	4	ZNF251	8	145947669	Missense_Mutation	SNP	T	TCGA-30-1856-01A-01W-0639-09	25313911	145947669	416353	33	20184											
C10orf18	54906	genome.wustl.edu	37	10	5791425	5791425	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr10:5791425C>G	ENST00000328090.5	+	15	6666	c.6041C>G	c.(6040-6042)tCc>tGc	p.S2014C		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2014																	ACCCAGATCTCCATTGGTGCT	0.478																																																0			10											106	111	109					10																	5791425		1927	4130	6057	5831431	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6041C>G	10.37:g.5791425C>G	ENSP00000328426:p.Ser2014Cys		5831431	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994500	0.19043	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.05319	3.46	5.45	-0.323	0.12709	.	2.020450	0.02017	N	0.047515	T	0.08980	0.0222	L	0.47716	1.5	0.09310	N	1	P	0.46277	0.875	B	0.43754	0.43	T	0.28004	-1.0057	10	0.51188	T	0.08	.	5.5044	0.16846	0.0:0.3041:0.4314:0.2645	.	2014	Q5VWN6	F208B_HUMAN	C	2014;1209	ENSP00000328426:S2014C	ENSP00000328426:S2014C	S	+	2	0	C10orf18	5831431	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.666000	0.05280	-0.037000	0.13646	0.555000	0.69702	TCC		0.478	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		G	5791425	C	G	5791425	3	3	366	1	0	0	0	0	1	0	0	0	1596	855	30	3	6087	3	C10orf18	10	5791425	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09		5791425	129743322	34	20185											
ITGA8	8516	genome.wustl.edu	37	10	15713623	15713623	+	Missense_Mutation	SNP	A	A	G	rs376644664		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr10:15713623A>G	ENST00000378076.3	-	8	1179	c.826T>C	c.(826-828)Ttt>Ctt	p.F276L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	276					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCCCAGTAAACTCCCCAGCA	0.343																																																0			10											89	82	84					10																	15713623		2203	4300	6503	15753629	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.826T>C	10.37:g.15713623A>G	ENSP00000367316:p.Phe276Leu		15753629	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981132	0.74474	.	.	ENSG00000077943	ENST00000378076	T	0.22134	1.97	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.56595	-0.7953	10	0.52906	T	0.07	.	15.6114	0.76721	1.0:0.0:0.0:0.0	.	276	P53708	ITA8_HUMAN	L	276	ENSP00000367316:F276L	ENSP00000367316:F276L	F	-	1	0	ITGA8	15753629	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	7.109000	0.77062	2.158000	0.67659	0.374000	0.22700	TTT		0.343	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		G	15713623	A	G	15713623	3	3	366	1	0	0	0	0	1	0	0	0	7882	43	2	4	2457	4	ITGA8	10	15713623	Missense_Mutation	SNP	A	TCGA-30-1856-01A-01W-0639-09	9922198	15713623	119821124	35	20186											
MYO3A	53904	genome.wustl.edu	37	10	26315381	26315381	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr10:26315381G>T	ENST00000265944.5	+	10	1039	c.873G>T	c.(871-873)gaG>gaT	p.E291D	MYO3A_ENST00000543632.1_Missense_Mutation_p.E291D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	291					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTCAAATTGAGGGCAAAGATG	0.383																																																0			10											90	85	86					10																	26315381		2203	4300	6503	26355387	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.873G>T	10.37:g.26315381G>T	ENSP00000265944:p.Glu291Asp		26355387	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470331	0.26423	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.13089	2.62;2.62	5.76	-1.17	0.09648	Protein kinase-like domain (1);	0.348277	0.32488	N	0.006034	T	0.11750	0.0286	M	0.68317	2.08	0.30457	N	0.774698	P;P;P	0.46859	0.604;0.47;0.885	B;B;B	0.41036	0.196;0.096;0.346	T	0.28073	-1.0055	10	0.21014	T	0.42	.	6.2257	0.20706	0.5514:0.0:0.3204:0.1283	.	291;291;291	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	D	291	ENSP00000265944:E291D;ENSP00000445909:E291D	ENSP00000265944:E291D	E	+	3	2	MYO3A	26355387	0.831000	0.29352	0.938000	0.37757	0.993000	0.82548	-0.060000	0.11712	-0.406000	0.07588	0.655000	0.94253	GAG		0.383	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26315381	G	T	26315381	3	4	366	1	0	0	0	0	1	0	0	0	10076	991	35	3	903	3	MYO3A	10	26315381	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	10601758	26315381	109219366	36	20187											
ELP4	26610	genome.wustl.edu	37	11	31531396	31531396	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr11:31531396G>C	ENST00000350638.5	+	1	100	c.65G>C	c.(64-66)aGc>aCc	p.S22T	IMMP1L_ENST00000533642.1_5'Flank|IMMP1L_ENST00000528161.1_5'Flank|IMMP1L_ENST00000526776.1_5'Flank|IMMP1L_ENST00000278200.1_5'Flank|IMMP1L_ENST00000534812.1_5'Flank|ELP4_ENST00000379163.5_Missense_Mutation_p.S22T|ELP4_ENST00000395934.2_Missense_Mutation_p.S22T|IMMP1L_ENST00000532287.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	22					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GCGACAGCCAGCAAGAGCAAC	0.612																																																0			11											52	59	56					11																	31531396		2103	4230	6333	31487972	SO:0001583	missense	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.65G>C	11.37:g.31531396G>C	ENSP00000298937:p.Ser22Thr		31487972	B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435265	0.43224	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.46063	0.94;0.88;1.47	5.62	3.73	0.42828	.	0.970800	0.08566	N	0.926740	T	0.34077	0.0885	L	0.47716	1.5	0.09310	N	1	B;B;B	0.31290	0.18;0.318;0.089	B;B;B	0.29716	0.031;0.106;0.031	T	0.21245	-1.0251	10	0.13108	T	0.6	-0.1941	8.9531	0.35801	0.179:0.0:0.821:0.0	.	22;22;22	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	T	22	ENSP00000298937:S22T;ENSP00000368461:S22T;ENSP00000379267:S22T	ENSP00000298937:S22T	S	+	2	0	ELP4	31487972	0.002000	0.14202	0.005000	0.12908	0.073000	0.16967	0.874000	0.28065	1.520000	0.48965	0.555000	0.69702	AGC		0.612	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		C	31531396	G	C	31531396	3	2	366	1	0	0	0	0	1	0	0	0	5082	971	34	3	67	3	ELP4	11	31531396	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09		31531396	103475120	37	20188											
NRXN2	9379	genome.wustl.edu	37	11	64415771	64415771	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr11:64415771T>G	ENST00000377551.1	-	16	3534	c.3323A>C	c.(3322-3324)cAg>cCg	p.Q1108P	NRXN2_ENST00000409571.1_Missense_Mutation_p.Q1101P|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.Q1108P|NRXN2_ENST00000377559.3_Missense_Mutation_p.Q1068P			Q9P2S2	NRX2A_HUMAN	neurexin 2	1108	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCAGACGCCCTGGTTGGCACA	0.622																																																0			11											103	90	94					11																	64415771		2201	4297	6498	64172347	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3323A>C	11.37:g.64415771T>G	ENSP00000366774:p.Gln1108Pro		64172347	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690127	0.68271	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.34	3.18	0.36537	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42420	U	0.000702	T	0.78886	0.4354	M	0.86028	2.79	0.48087	D	0.999589	D;D;D	0.65815	0.994;0.995;0.976	D;P;P	0.71656	0.974;0.862;0.559	T	0.77151	-0.2693	10	0.72032	D	0.01	.	4.916	0.13846	0.1876:0.0:0.1952:0.6172	.	1068;1108;854	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	P	1108;1068;1108;1068;1101	ENSP00000366774:Q1108P;ENSP00000366782:Q1068P;ENSP00000265459:Q1108P;ENSP00000386416:Q1101P	ENSP00000265459:Q1108P	Q	-	2	0	NRXN2	64172347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.528000	0.60580	0.683000	0.31428	0.533000	0.62120	CAG		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		G	64415771	T	G	64415771	3	3	366	1	0	0	0	0	1	0	0	0	10666	1580	55	5	2112	5	NRXN2	11	64415771	Missense_Mutation	SNP	T	TCGA-30-1856-01A-01W-0639-09	32884375	64415771	70590745	38	20189											
C11orf67	28971	genome.wustl.edu	37	11	77580839	77580839	+	Silent	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr11:77580839C>T	ENST00000526415.1	+	4	377	c.204C>T	c.(202-204)ggC>ggT	p.G68G	RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525409.1_Intron|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000532481.1_Silent_p.G68G|AAMDC_ENST00000393427.2_Silent_p.G68G|AAMDC_ENST00000533193.1_Silent_p.G114G|AAMDC_ENST00000525034.1_Silent_p.G87G|AAMDC_ENST00000304716.8_Silent_p.G68G|AAMDC_ENST00000527134.1_Silent_p.G68G			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	68	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											TTGTGATTGGCCGAGGGATGA	0.507																																																0			11											333	310	318					11																	77580839		2200	4292	6492	77258487	SO:0001819	synonymous_variant	28971			BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 67"	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.204C>T	11.37:g.77580839C>T			77258487	Q96AQ4|Q9Y6B1	Silent	SNP	ENST00000526415.1	37	CCDS8254.1																																																																																				0.507	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684		T	77580839	C	T	77580839	2	4	366	1	0	0	0	0	0	0	0	1	1657	726	26	2		2	C11orf67	11	77580839	Silent	SNP	C	TCGA-30-1856-01A-01W-0639-09	13165068	77580839	57425677	39	20190											
TYR	7299	genome.wustl.edu	37	11	89028423	89028423	+	Silent	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr11:89028423A>G	ENST00000263321.5	+	5	1981	c.1479A>G	c.(1477-1479)gcA>gcG	p.A493A		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	493					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCCTGCTGGCAGGGCTTGTGA	0.527																																																0			11											38	40	40					11																	89028423		2201	4299	6500	88668071	SO:0001819	synonymous_variant	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1479A>G	11.37:g.89028423A>G			88668071	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	CCDS8284.1																																																																																				0.527	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		G	89028423	A	G	89028423	2	3	366	1	0	0	0	0	0	0	0	1	16813	175	7	4		4	TYR	11	89028423	Silent	SNP	A	TCGA-30-1856-01A-01W-0639-09	11447584	89028423	45978093	40	20191											
GYS2	2998	genome.wustl.edu	37	12	21693414	21693414	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr12:21693414C>T	ENST00000261195.2	-	14	1993	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	580					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.R580H(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AATCCTTTGGCGGCGTGACTG	0.443																																					Colon(149;9 1820 3690 10544 50424)											1	Substitution - Missense(1)	endometrium(1)	12											154	158	157					12																	21693414		2203	4300	6503	21584681	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1739G>A	12.37:g.21693414C>T	ENSP00000261195:p.Arg580His		21584681	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348564	0.95807	.	.	ENSG00000111713	ENST00000261195	T	0.73152	-0.72	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89839	0.4001	10	0.87932	D	0	-16.9227	18.6922	0.91588	0.0:1.0:0.0:0.0	.	580	P54840	GYS2_HUMAN	H	580	ENSP00000261195:R580H	ENSP00000261195:R580H	R	-	2	0	GYS2	21584681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.638000	0.83328	2.641000	0.89580	0.650000	0.86243	CGC		0.443	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		T	21693414	C	T	21693414	3	4	366	1	0	0	0	0	1	0	0	0	6913	768	27	1	384	1	GYS2	12	21693414	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09		21693414	112158481	41	20192											
DIS3	22894	genome.wustl.edu	37	13	73345227	73345227	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr13:73345227G>A	ENST00000377767.4	-	12	1762	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	DIS3_ENST00000545453.1_Silent_p.D392D|DIS3_ENST00000377780.4_Silent_p.D524D	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	554					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACCTGTCCACGTCACATTTTA	0.358										Multiple Myeloma(4;0.011)																																						0			13											120	114	116					13																	73345227		2203	4300	6503	72243228	SO:0001819	synonymous_variant	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1662C>T	13.37:g.73345227G>A			72243228	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	CCDS9447.1																																																																																				0.358	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		A	73345227	G	A	73345227	2	1	366	1	0	0	0	0	0	0	0	1	4535	1136	40	1		1	DIS3	13	73345227	Silent	SNP	G	TCGA-30-1856-01A-01W-0639-09		73345227	41824651	42	20193											
PSME2	5721	genome.wustl.edu	37	14	24613441	24613441	+	Missense_Mutation	SNP	C	C	T	rs138061159	byFrequency	TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr14:24613441C>T	ENST00000216802.5	-	8	1096	c.457G>A	c.(457-459)Gtc>Atc	p.V153I	EMC9_ENST00000216799.4_5'Flank|EMC9_ENST00000560403.1_5'Flank|EMC9_ENST00000558200.1_5'Flank|RNF31_ENST00000559275.1_5'Flank|EMC9_ENST00000419198.2_5'Flank|PSME2_ENST00000560410.1_Missense_Mutation_p.V142I|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	153					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TTGGTCTTGACGGCATTCACC	0.537													C|||	2	0.000399361	0	0.0029	5008	,	,		22195	0		0	False		,,,				2504	0															0			14											164	165	165					14																	24613441		2203	4300	6503	23683281	SO:0001583	missense	5721				CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"Proteasome (prosome, macropain) subunits"	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.457G>A	14.37:g.24613441C>T	ENSP00000216802:p.Val153Ile		23683281	Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	CCDS9614.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	20.5	4.001346	0.74818	.	.	ENSG00000100911	ENST00000216802	T	0.36340	1.26	4.56	4.56	0.56223	Proteasome activator pa28, REG beta subunit (2);	0.119750	0.56097	D	0.000033	T	0.28001	0.0690	M	0.67517	2.055	0.58432	D	0.999999	P	0.45986	0.87	B	0.40506	0.331	T	0.09378	-1.0677	10	0.25751	T	0.34	-6.1258	13.0106	0.58729	0.0:1.0:0.0:0.0	.	153	Q9UL46	PSME2_HUMAN	I	153	ENSP00000216802:V153I	ENSP00000216802:V153I	V	-	1	0	PSME2	23683281	0.976000	0.34144	0.979000	0.43373	0.909000	0.53808	2.419000	0.44671	2.525000	0.85131	0.650000	0.86243	GTC		0.537	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		T	24613441	C	T	24613441	3	4	366	1	0	0	0	0	1	0	0	0	12710	536	19	1	278	1	PSME2	14	24613441	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09		24613441	82736099	43	20194											
SERPINA4	5267	genome.wustl.edu	37	14	95035835	95035835	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr14:95035835T>A	ENST00000557004.1	+	5	1608	c.1187T>A	c.(1186-1188)aTc>aAc	p.I396N	SERPINA4_ENST00000555095.1_Missense_Mutation_p.I396N|SERPINA4_ENST00000298841.5_Missense_Mutation_p.I396N|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	396					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AATCGCCACATCCTGCGATTC	0.582																																																0			14											106	82	90					14																	95035835		2203	4300	6503	94105588	SO:0001583	missense	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1187T>A	14.37:g.95035835T>A	ENSP00000450838:p.Ile396Asn		94105588	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	T	9.192	1.026225	0.19512	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.83419	-1.72;-1.72;-1.72	4.63	-0.979	0.10276	Serpin domain (3);	1.705140	0.03444	N	0.209635	T	0.74619	0.3740	N	0.17872	0.535	0.09310	N	0.999999	P;B	0.42203	0.773;0.124	P;B	0.44422	0.449;0.166	T	0.62863	-0.6764	10	0.17369	T	0.5	.	9.538	0.39235	0.0:0.4174:0.0:0.5826	.	396;396	B2R815;P29622	.;KAIN_HUMAN	N	396	ENSP00000450838:I396N;ENSP00000451172:I396N;ENSP00000298841:I396N	ENSP00000298841:I396N	I	+	2	0	SERPINA4	94105588	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	0.126000	0.15769	-0.045000	0.13468	0.459000	0.35465	ATC		0.582	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		A	95035835	T	A	95035835	3	1	366	1	0	0	0	0	1	0	0	0	14094	1435	50	5	1201	5	SERPINA4	14	95035835	Missense_Mutation	SNP	T	TCGA-30-1856-01A-01W-0639-09	70422394	95035835	12313705	44	20195											
LBXCOR1	390598	genome.wustl.edu	37	15	68125541	68125541	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr15:68125541A>G	ENST00000380035.2	+	8	2807	c.2749A>G	c.(2749-2751)Aac>Gac	p.N917D	RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554240.1_Missense_Mutation_p.N878D|SKOR1_ENST00000341418.5_Missense_Mutation_p.N820D|RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000389002.1_Missense_Mutation_p.N873D|SKOR1_ENST00000554054.1_Missense_Mutation_p.N889D			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	917					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TACCCTGTGTAACGAACTCGA	0.622																																																0			15											55	49	51					15																	68125541		2200	4298	6498	65912595	SO:0001583	missense	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2749A>G	15.37:g.68125541A>G	ENSP00000369374:p.Asn917Asp		65912595	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.287949	0.80803	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.74209	-0.82;-0.78;-0.78;-0.78;-0.78	5.34	5.34	0.76211	.	0.174514	0.49305	D	0.000159	T	0.72244	0.3436	N	0.19112	0.55	0.32295	N	0.565807	D	0.63046	0.992	P	0.59012	0.85	T	0.73288	-0.4030	10	0.21014	T	0.42	-33.6305	14.4456	0.67347	1.0:0.0:0.0:0.0	.	873	P84550-3	.	D	820;878;889;917;873	ENSP00000343200:N820D;ENSP00000451193:N878D;ENSP00000452361:N889D;ENSP00000369374:N917D;ENSP00000373654:N873D	ENSP00000343200:N820D	N	+	1	0	SKOR1	65912595	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.552000	0.82192	2.146000	0.66826	0.379000	0.24179	AAC		0.622	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		G	68125541	A	G	68125541	3	3	366	1	0	0	0	0	1	0	0	0	8655	362	13	4	2651	4	LBXCOR1	15	68125541	Missense_Mutation	SNP	A	TCGA-30-1856-01A-01W-0639-09		68125541	34405851	45	20196											
RASGRF1	5923	genome.wustl.edu	37	15	79350726	79350726	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr15:79350726G>A	ENST00000419573.3	-	3	755	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R161W|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	161					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCTGCTGCCGAAGCTGCTTG	0.597																																																0			15											122	99	107					15																	79350726		2196	4293	6489	77137781	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.481C>T	15.37:g.79350726G>A	ENSP00000405963:p.Arg161Trp		77137781	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196761	0.79015	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.46063	0.88	4.59	3.63	0.41609	.	0.000000	0.64402	D	0.000003	T	0.56949	0.2020	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.959;0.987;0.991;0.996	T	0.60052	-0.7338	10	0.87932	D	0	.	11.9043	0.52701	0.0:0.0:0.8262:0.1738	.	161;161;161;161	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	W	161	ENSP00000405963:R161W	ENSP00000378224:R161W	R	-	1	2	RASGRF1	77137781	1.000000	0.71417	0.998000	0.56505	0.754000	0.42855	4.014000	0.57145	2.366000	0.80165	0.542000	0.68232	CGG		0.597	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79350726	G	A	79350726	3	1	366	1	0	0	0	0	1	0	0	0	13075	1057	37	1	3444	1	RASGRF1	15	79350726	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	11225185	79350726	23180666	46	20197											
AIPL1	23746	genome.wustl.edu	37	17	6329112	6329112	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr17:6329112C>T	ENST00000381129.3	-	6	903	c.823G>A	c.(823-825)Gca>Aca	p.A275T	AIPL1_ENST00000250087.5_Missense_Mutation_p.A212T|AIPL1_ENST00000574506.1_Missense_Mutation_p.A263T|AIPL1_ENST00000576307.1_Missense_Mutation_p.A215T|AIPL1_ENST00000570466.1_Missense_Mutation_p.A253T|AIPL1_ENST00000576776.1_Missense_Mutation_p.A251T|AIPL1_ENST00000575265.1_3'UTR	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	275					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CACACCTCTGCGTGAGCCCGG	0.662																																																0			17											30	29	29					17																	6329112		2203	4300	6503	6269836	SO:0001583	missense	23746			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.823G>A	17.37:g.6329112C>T	ENSP00000370521:p.Ala275Thr		6269836	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490553	0.64074	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087;ENST00000444243	D;D	0.88896	-2.44;-2.44	5.14	4.16	0.48862	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.248148	0.39759	N	0.001276	D	0.91338	0.7268	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.999;1.0;1.0;1.0	P;D;D;D;D	0.79108	0.866;0.948;0.991;0.978;0.992	D	0.88200	0.2883	10	0.14656	T	0.56	-23.5966	12.7754	0.57443	0.1654:0.8346:0.0:0.0	.	251;253;212;215;275	Q659W3;Q659W4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	T	275;215;212;275	ENSP00000370521:A275T;ENSP00000250087:A212T	ENSP00000250087:A212T	A	-	1	0	AIPL1	6269836	1.000000	0.71417	0.993000	0.49108	0.319000	0.28217	1.666000	0.37460	1.131000	0.42111	0.462000	0.41574	GCA		0.662	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		T	6329112	C	T	6329112	3	4	366	1	0	0	0	0	1	0	0	0	436	768	27	1	335	1	AIPL1	17	6329112	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09		6329112	74866098	47	20198											
ABCA8	10351	genome.wustl.edu	37	17	66871503	66871503	+	Missense_Mutation	SNP	C	C	G	rs372405188		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr17:66871503C>G	ENST00000269080.2	-	35	4546	c.4409G>C	c.(4408-4410)gGc>gCc	p.G1470A	ABCA8_ENST00000430352.2_Missense_Mutation_p.G1510A|ABCA8_ENST00000586539.1_Missense_Mutation_p.G1510A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1470	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTAATCTTTGCCAAATTTGCT	0.468																																																0			17											91	82	85					17																	66871503		2203	4300	6503	64383098	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4409G>C	17.37:g.66871503C>G	ENSP00000269080:p.Gly1470Ala		64383098	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392338	0.83011	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.96802	-4.13;-4.13	5.25	4.29	0.51040	ABC transporter-like (1);	0.000000	0.49305	D	0.000147	D	0.96525	0.8866	L	0.37800	1.135	0.45676	D	0.998595	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96726	0.9536	10	0.62326	D	0.03	.	13.2167	0.59865	0.0:0.923:0.0:0.077	.	1510;1510;1470	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	A	1470;1510	ENSP00000269080:G1470A;ENSP00000402814:G1510A	ENSP00000269080:G1470A	G	-	2	0	ABCA8	64383098	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	4.390000	0.59646	1.364000	0.46038	0.655000	0.94253	GGC		0.468	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		G	66871503	C	G	66871503	3	3	366	1	0	0	0	0	1	0	0	0	38	739	26	3	352	3	ABCA8	17	66871503	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09	60542391	66871503	14323707	48	20199											
SERPINB8	5271	genome.wustl.edu	37	18	61650840	61650840	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr18:61650840G>C	ENST00000397985.2	+	5	708	c.452G>C	c.(451-453)gGg>gCg	p.G151A	SERPINB8_ENST00000353706.2_Missense_Mutation_p.G151A|SERPINB8_ENST00000397988.3_Missense_Mutation_p.G151A|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	151					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTGGATGCTGGGACAGTCGAT	0.398																																																0			18											123	115	118					18																	61650840		2203	4300	6503	59801820	SO:0001583	missense	5271			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.452G>C	18.37:g.61650840G>C	ENSP00000381072:p.Gly151Ala		59801820	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.85|15.85	2.954920|2.954920	0.53293|0.53293	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827|ENST00000295211	D;D;D;D|D	0.83673|0.83591	-1.75;-1.75;-1.75;-1.75|-1.74	5.65|5.65	4.74|4.74	0.60224|0.60224	Serpin domain (3);|.	0.044733|0.044733	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.91168|0.91168	0.7218|0.7218	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	B;B|.	0.33739|.	0.422;0.422|.	B;B|.	0.43445|.	0.42;0.42|.	D|D	0.91939|0.91939	0.5561|0.5561	10|8	0.87932|0.66056	D|D	0|0.02	.|.	15.9883|15.9883	0.80179|0.80179	0.0:0.1337:0.8663:0.0|0.0:0.1337:0.8663:0.0	.|.	151;151|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	A|R	151|93	ENSP00000381072:G151A;ENSP00000331368:G151A;ENSP00000381075:G151A;ENSP00000393456:G151A|ENSP00000295211:G93R	ENSP00000331368:G151A|ENSP00000295211:G93R	G|G	+|+	2|1	0|0	SERPINB8|SERPINB8	59801820|59801820	1.000000|1.000000	0.71417|0.71417	0.292000|0.292000	0.24919|0.24919	0.050000|0.050000	0.14768|0.14768	6.364000|6.364000	0.73086|0.73086	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.398	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		C	61650840	G	C	61650840	3	2	366	1	0	0	0	0	1	0	0	0	14110	1232	43	3	466	3	SERPINB8	18	61650840	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09		61650840	16426408	49	20200											
ZNF43	7594	genome.wustl.edu	37	19	21991432	21991432	+	Silent	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr19:21991432A>G	ENST00000354959.4	-	4	1576	c.1407T>C	c.(1405-1407)ctT>ctC	p.L469L	ZNF43_ENST00000594012.1_Silent_p.L463L|ZNF43_ENST00000595461.1_Silent_p.L463L|ZNF43_ENST00000598381.1_Silent_p.L463L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	469					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGTGTAGTAAGGTTTGAGA	0.383																																																0			19											61	62	61					19																	21991432		2203	4300	6503	21783272	SO:0001819	synonymous_variant	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1407T>C	19.37:g.21991432A>G			21783272	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.383	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		G	21991432	A	G	21991432	2	3	366	1	0	0	0	0	0	0	0	1	17903	349	13	4		4	ZNF43	19	21991432	Silent	SNP	A	TCGA-30-1856-01A-01W-0639-09		21991432	37137551	50	20201											
ATP4A	495	genome.wustl.edu	37	19	36053474	36053474	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr19:36053474G>A	ENST00000262623.3	-	4	311	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	95					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGGGTGCCCCGTGGTGGCCGC	0.701																																																0			19											19	19	19					19																	36053474		2198	4298	6496	40745314	SO:0001583	missense	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.283C>T	19.37:g.36053474G>A	ENSP00000262623:p.Arg95Trp		40745314	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	14.65	2.599768	0.46318	.	.	ENSG00000105675	ENST00000262623	D	0.89050	-2.46	3.53	-2.61	0.06171	ATPase, P-type cation-transporter, N-terminal (2);	1.279830	0.06414	N	0.721226	D	0.91147	0.7212	L	0.55990	1.75	0.09310	N	1	D	0.58268	0.982	P	0.60541	0.876	D	0.83410	0.0027	10	0.87932	D	0	.	11.1321	0.48354	0.0:0.0:0.4022:0.5978	.	95	P20648	ATP4A_HUMAN	W	95	ENSP00000262623:R95W	ENSP00000262623:R95W	R	-	1	2	ATP4A	40745314	0.000000	0.05858	0.148000	0.22405	0.658000	0.38924	-0.606000	0.05654	-0.133000	0.11537	0.465000	0.42564	CGG		0.701	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		A	36053474	G	A	36053474	3	1	366	1	0	0	0	0	1	0	0	0	1145	1144	40	1	2900	1	ATP4A	19	36053474	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	14062042	36053474	23075509	51	20202											
LRRN4	164312	genome.wustl.edu	37	20	6021808	6021809	+	In_Frame_Ins	INS	-	-	CAA	rs370743397		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr20:6021808_6021809insCAA	ENST00000378858.4	-	5	2306_2307	c.2082_2083insTTG	c.(2080-2085)ttgctc>ttgTTGctc	p.694_695LL>LLL		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	694					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTGCTGGCGAGCAACAGGCCGC	0.703																																																0			20																																								5969809	SO:0001652	inframe_insertion	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.2080_2082dupTTG	20.37:g.6021809_6021811dupCAA	ENSP00000368135:p.Leu694_Leu694dup		5969808	A8K258|Q5JWV6|Q9H419	In_Frame_Ins	INS	ENST00000378858.4	37	CCDS13097.1																																																																																				0.703	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		CAA	6021809	-	CAA	6021808	7	5	366	1	0	1	1	0	0	0	0	0	9037	971	34	0	143	0	LRRN4	20	6021808	In_Frame_Ins	INS	-	TCGA-30-1856-01A-01W-0639-09		6021808	57003712	52	20203											
MYLK2	85366	genome.wustl.edu	37	20	30419861	30419861	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr20:30419861G>A	ENST00000375994.2	+	11	1905	c.1632G>A	c.(1630-1632)gcG>gcA	p.A544A	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.A544A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	544					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAACCTGGCGGAGAAAGCCA	0.597																																																0			20											47	36	40					20																	30419861		2202	4300	6502	29883522	SO:0001819	synonymous_variant	85366			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1632G>A	20.37:g.30419861G>A			29883522	Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	CCDS13191.1																																																																																				0.597	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		A	30419861	G	A	30419861	2	1	366	1	0	0	0	0	0	0	0	1	10057	1103	39	1		1	MYLK2	20	30419861	Silent	SNP	G	TCGA-30-1856-01A-01W-0639-09	24398053	30419861	32605659	53	20204											
MMP24	10893	genome.wustl.edu	37	20	33839758	33839758	+	Missense_Mutation	SNP	G	G	A	rs557891491		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr20:33839758G>A	ENST00000246186.6	+	3	531	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MMP24-AS1_ENST00000454184.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	149	Poly-Arg.				cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CACTTAAGCCGTAGGCGGAGA	0.547													G|||	1	0.000199681	0	0.0014	5008	,	,		21605	0		0	False		,,,				2504	0															0			20											138	144	142					20																	33839758		2029	4186	6215	33303174	SO:0001583	missense	10893			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.446G>A	20.37:g.33839758G>A	ENSP00000246186:p.Arg149His		33303174	B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669497	0.47677	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.17054	2.3	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);	0.112422	0.64402	D	0.000012	T	0.17492	0.0420	M	0.64997	1.995	0.34728	D	0.729402	B	0.10296	0.003	B	0.09377	0.004	T	0.10894	-1.0610	10	0.35671	T	0.21	.	8.6868	0.34243	0.2356:0.0:0.7644:0.0	.	149	Q9Y5R2	MMP24_HUMAN	H	149;97	ENSP00000246186:R149H	ENSP00000246186:R149H	R	+	2	0	MMP24	33303174	0.998000	0.40836	0.870000	0.34147	0.854000	0.48673	3.501000	0.53325	1.407000	0.46875	0.655000	0.94253	CGT		0.547	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		A	33839758	G	A	33839758	3	1	366	1	0	0	0	0	1	0	0	0	9661	1145	40	1	206	1	MMP24	20	33839758	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	3419897	33839758	29185762	54	20205											
DOPEY2	9980	genome.wustl.edu	37	21	37603142	37603142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr21:37603142delT	ENST00000399151.3	+	14	2145	c.2060delT	c.(2059-2061)atcfs	p.I687fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	687					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCAAGCCCATCACTGTGCCT	0.557																																																0			21											82	73	76					21																	37603142		2203	4300	6503	36525012	SO:0001589	frameshift_variant	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2060delT	21.37:g.37603142delT	ENSP00000382104:p.Ile687fs		36525012	D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Del	DEL	ENST00000399151.3	37	CCDS13643.1																																																																																				0.557	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		-	37603142	T	-	37603142	7	5	366	1	0	1	0	1	0	0	0	0	4708	1435	50	0	2110	0	DOPEY2	21	37603142	Frame_Shift_Del	DEL	T	TCGA-30-1856-01A-01W-0639-09		37603142	10526753	55	20206											
LARGE	9215	genome.wustl.edu	37	22	33700283	33700283	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr22:33700283G>A	ENST00000354992.2	-	13	2233	c.1662C>T	c.(1660-1662)atC>atT	p.I554I	LARGE_ENST00000337431.2_Silent_p.I502I|LARGE_ENST00000397394.2_Silent_p.I554I|LARGE_ENST00000402320.1_Silent_p.I502I|LARGE_ENST00000452586.2_Silent_p.I353I|LARGE_ENST00000437602.2_Silent_p.I554I	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	554					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGGAGTGCTGATGTGCTTCA	0.572																																					Colon(70;397 1175 4573 19089 45288)											0			22											178	138	152					22																	33700283		2203	4300	6503	32030283	SO:0001819	synonymous_variant	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1662C>T	22.37:g.33700283G>A			32030283	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	CCDS13912.1																																																																																				0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		A	33700283	G	A	33700283	2	1	366	1	0	0	0	0	0	0	0	1	8627	1280	45	2		2	LARGE	22	33700283	Silent	SNP	G	TCGA-30-1856-01A-01W-0639-09		33700283	17604283	56	20207											
DDX17	10521	genome.wustl.edu	37	22	38883957	38883957	+	Silent	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr22:38883957C>T	ENST00000396821.3	-	12	1710	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	DDX17_ENST00000381633.3_Silent_p.L460L|DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000432525.1_5'Flank	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	537	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TGGCCTCTTCCAGCACTTTGA	0.547																																					Ovarian(55;1085 1454 6392 21425)											0			22											152	133	139					22																	38883957		2203	4300	6503	37213903	SO:0001819	synonymous_variant	10521			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1611G>A	22.37:g.38883957C>T			37213903	B1AHM0|Q69YT1|Q6ICD6	Silent	SNP	ENST00000396821.3	37	CCDS46706.1																																																																																				0.547	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		T	38883957	C	T	38883957	2	4	366	1	0	0	0	0	0	0	0	1	4344	581	21	2		2	DDX17	22	38883957	Silent	SNP	C	TCGA-30-1856-01A-01W-0639-09	5183674	38883957	12420609	57	20208											
CACNA1I	8911	genome.wustl.edu	37	22	40036993	40036993	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr22:40036993G>A	ENST00000402142.3	+	6	862	c.862G>A	c.(862-864)Gag>Aag	p.E288K	CACNA1I_ENST00000401624.1_Missense_Mutation_p.E288K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E288K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E288K|CACNA1I_ENST00000336649.4_Missense_Mutation_p.E288K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E288K	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	288					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCGCTCAAGGAGCAGGGCCG	0.622																																																0			22											54	59	58					22																	40036993		2063	4206	6269	38366939	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.862G>A	22.37:g.40036993G>A	ENSP00000385019:p.Glu288Lys		38366939	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594556	0.66219	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96992	-4.18;-4.13;-4.16;-4.12;-4.2;-4.1	4.99	4.99	0.66335	Ion transport (1);	0.059613	0.64402	D	0.000004	D	0.96962	0.9008	M	0.66506	2.035	0.58432	D	0.999995	P;D;P;D	0.56746	0.94;0.971;0.897;0.977	P;P;P;P	0.55011	0.641;0.716;0.488;0.766	D	0.96386	0.9285	10	0.36615	T	0.2	.	18.2755	0.90081	0.0:0.0:1.0:0.0	.	288;288;288;288	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	K	288	ENSP00000385019:E288K;ENSP00000384093:E288K;ENSP00000383887:E288K;ENSP00000385680:E288K;ENSP00000337829:E288K;ENSP00000383028:E288K	ENSP00000337829:E288K	E	+	1	0	CACNA1I	38366939	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.897000	0.69831	2.327000	0.79052	0.563000	0.77884	GAG		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		A	40036993	G	A	40036993	3	1	366	1	0	0	0	0	1	0	0	0	2546	1175	41	2	884	2	CACNA1I	22	40036993	Missense_Mutation	SNP	G	TCGA-30-1856-01A-01W-0639-09	1153036	40036993	11267573	58	20209											
ZNF645	158506	genome.wustl.edu	37	X	22291956	22291956	+	Missense_Mutation	SNP	C	C	T	rs371087148		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chrX:22291956C>T	ENST00000323684.1	+	1	892	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	283	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CAGCATTATGCGCCACCTCCA	0.478																																																0			X						C	VAL/ALA	0,3835		0,0,1632,571	147	114	125		848	-2.2	0	X		125	1,6727		0,1,2427,1872	no	missense	ZNF645	NM_152577.3	64	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	283/426	22291956	1,10562	2203	4300	6503	22201877	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.848C>T	X.37:g.22291956C>T	ENSP00000323348:p.Ala283Val		22201877	A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	7.011	0.556777	0.13436	0.0	1.49E-4	ENSG00000175809	ENST00000323684	T	0.32753	1.44	2.6	-2.19	0.07015	.	0.420734	0.20240	N	0.096309	T	0.11922	0.0290	N	0.12746	0.255	0.09310	N	1	B	0.33198	0.401	B	0.23275	0.045	T	0.12578	-1.0542	10	0.37606	T	0.19	.	7.9318	0.29907	0.0:0.4705:0.0:0.5295	.	283	Q8N7E2	ZN645_HUMAN	V	283	ENSP00000323348:A283V	ENSP00000323348:A283V	A	+	2	0	ZNF645	22201877	0.020000	0.18652	0.000000	0.03702	0.001000	0.01503	0.301000	0.19174	-0.798000	0.04444	0.600000	0.82982	GCG		0.478	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		T	22291956	C	T	22291956	3	4	366	1	0	0	0	0	1	0	0	0	18061	768	27	1	850	1	ZNF645	23	22291956	Missense_Mutation	SNP	C	TCGA-30-1856-01A-01W-0639-09		22291956	132978604	59	20210											
CCDC27	148870	genome.wustl.edu	37	1	3669295	3669295	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:3669295A>G	ENST00000294600.2	+	1	334	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	84										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCCAGAATGGAAACCGCACCA	0.647																																																0			1											59	57	58					1																	3669295		2203	4300	6503	3659155	SO:0001583	missense	148870				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.250A>G	1.37:g.3669295A>G	ENSP00000294600:p.Lys84Glu		3659155	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	9.721	1.159622	0.21454	.	.	ENSG00000162592	ENST00000294600	T	0.23950	1.88	3.85	3.85	0.44370	.	0.475733	0.17691	N	0.165264	T	0.26955	0.0660	L	0.32530	0.975	0.09310	N	1	P	0.50156	0.932	P	0.50352	0.638	T	0.05716	-1.0868	10	0.87932	D	0	-20.8109	9.3164	0.37937	1.0:0.0:0.0:0.0	.	84	Q2M243	CCD27_HUMAN	E	84	ENSP00000294600:K84E	ENSP00000294600:K84E	K	+	1	0	CCDC27	3659155	0.012000	0.17670	0.014000	0.15608	0.003000	0.03518	2.172000	0.42463	1.991000	0.58162	0.528000	0.53228	AAA		0.647	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		G	3669295	A	G	3669295	3	3	367	1	0	0	0	0	1	0	0	0	2801	247	9	4	252	4	CCDC27	1	3669295	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09		3669295	245581326	1	20211											
MAP3K6	9064	genome.wustl.edu	37	1	27684720	27684720	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:27684720G>C	ENST00000493901.1	-	22	3106	c.2867C>G	c.(2866-2868)cCc>cGc	p.P956R	MAP3K6_ENST00000357582.2_Missense_Mutation_p.P956R|MAP3K6_ENST00000374040.3_Missense_Mutation_p.P948R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	956					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGGGGGGCTGGGTGGGTGCTG	0.617											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											78	87	84					1																	27684720		2203	4300	6503	27557307	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2867C>G	1.37:g.27684720G>C	ENSP00000419591:p.Pro956Arg	796	27557307	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.612|9.612	1.131559|1.131559	0.21041|0.21041	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000472410|ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T|T;T;T	0.23348|0.23950	1.91|1.88;1.88;1.88	4.82|4.82	3.9|3.9	0.45041|0.45041	.|.	.|.	.|.	.|.	.|.	T|T	0.15782|0.15782	0.0380|0.0380	N|N	0.24115|0.24115	0.695|0.695	0.31420|0.31420	N|N	0.674364|0.674364	.|B;B	.|0.31859	.|0.343;0.232	.|B;B	.|0.33254	.|0.16;0.077	T|T	0.15954|0.15954	-1.0419|-1.0419	7|9	0.06625|0.13470	T|T	0.88|0.59	.|.	8.8902|8.8902	0.35429|0.35429	0.1012:0.0:0.8988:0.0|0.1012:0.0:0.8988:0.0	.|.	.|948;956	.|O95382-3;O95382	.|.;M3K6_HUMAN	A|R	680|948;956;679;956	ENSP00000418731:P680A|ENSP00000363152:P948R;ENSP00000419591:P956R;ENSP00000350195:P956R	ENSP00000418731:P680A|ENSP00000350195:P956R	P|P	-|-	1|2	0|0	MAP3K6|MAP3K6	27557307|27557307	0.988000|0.988000	0.35896|0.35896	0.958000|0.958000	0.39756|0.39756	0.881000|0.881000	0.50899|0.50899	0.739000|0.739000	0.26173|0.26173	1.271000|1.271000	0.44313|0.44313	0.650000|0.650000	0.86243|0.86243	CCA|CCC		0.617	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		C	27684720	G	C	27684720	3	2	367	1	0	0	0	0	1	0	0	0	9254	1232	43	3	1035	3	MAP3K6	1	27684720	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	24015425	27684720	221565901	2	20212											
SLFNL1	200172	genome.wustl.edu	37	1	41486079	41486079	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:41486079A>C	ENST00000359345.1	-	1	2830	c.254T>G	c.(253-255)gTg>gGg	p.V85G	SLFNL1_ENST00000397197.2_Missense_Mutation_p.V85G|SLFNL1_ENST00000439569.2_Missense_Mutation_p.V85G|SLFNL1_ENST00000372611.1_Missense_Mutation_p.V85G|SLFNL1_ENST00000372613.2_Missense_Mutation_p.V85G|SLFNL1_ENST00000302946.8_Missense_Mutation_p.V85G	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	85							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCGCCTCACCACTTCAATGTG	0.682																																																0			1											50	55	53					1																	41486079		2203	4299	6502	41258666	SO:0001583	missense	200172			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.254T>G	1.37:g.41486079A>C	ENSP00000352299:p.Val85Gly		41258666	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	CCDS460.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210574	0.79240	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.8	5.8	0.92144	.	0.000000	0.53938	D	0.000047	T	0.71685	0.3369	L	0.59436	1.845	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.74469	-0.3655	10	0.87932	D	0	-30.3341	12.533	0.56126	1.0:0.0:0.0:0.0	.	85;85;85	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	G	85	ENSP00000304401:V85G;ENSP00000361696:V85G;ENSP00000361694:V85G;ENSP00000352299:V85G;ENSP00000398938:V85G;ENSP00000380381:V85G	ENSP00000304401:V85G	V	-	2	0	SLFNL1	41258666	1.000000	0.71417	0.988000	0.46212	0.880000	0.50808	4.953000	0.63624	2.211000	0.71520	0.459000	0.35465	GTG		0.682	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		C	41486079	A	C	41486079	3	2	367	1	0	0	0	0	1	0	0	0	14741	159	6	5	985	5	SLFNL1	1	41486079	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09	13801359	41486079	207764542	3	20213											
MAST2	23139	genome.wustl.edu	37	1	46501659	46501659	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:46501659G>A	ENST00000361297.2	+	29	5601	c.5318G>A	c.(5317-5319)aGg>aAg	p.R1773K	MAST2_ENST00000372009.2_Missense_Mutation_p.R1583K	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCAGCCTCAGGAGGGGCCAA	0.557																																																0			1											82	85	84					1																	46501659		1932	4117	6049	46274246	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.5318G>A	1.37:g.46501659G>A	ENSP00000354671:p.Arg1773Lys		46274246		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.672563	0.00758	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.61510	0.12;0.1	5.38	-3.03	0.05429	.	1.252600	0.05565	N	0.570033	T	0.29158	0.0725	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24764	-1.0151	10	0.02654	T	1	1.3783	2.8435	0.05536	0.1996:0.2365:0.4447:0.1192	.	1583;1773	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	K	1773;1583	ENSP00000354671:R1773K;ENSP00000361079:R1583K	ENSP00000354671:R1773K	R	+	2	0	MAST2	46274246	0.033000	0.19621	0.001000	0.08648	0.201000	0.24016	0.058000	0.14301	-0.111000	0.12001	0.655000	0.94253	AGG		0.557	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		A	46501659	G	A	46501659	3	1	367	1	0	0	0	0	1	0	0	0	9325	1000	35	2	5432	2	MAST2	1	46501659	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	5015580	46501659	202748962	4	20214											
LRP8	7804	genome.wustl.edu	37	1	53716454	53716454	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:53716454C>G	ENST00000306052.6	-	17	2685	c.2584G>C	c.(2584-2586)Gac>Cac	p.D862H	LRP8_ENST00000347547.2_Missense_Mutation_p.D692H|LRP8_ENST00000371454.2_Missense_Mutation_p.D862H|LRP8_ENST00000465675.1_Missense_Mutation_p.D415H|LRP8_ENST00000354412.3_Missense_Mutation_p.D658H	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	862					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ACTGGGTTGTCAAAATTCATG	0.468																																																0			1											326	274	292					1																	53716454		2203	4300	6503	53489042	SO:0001583	missense	7804			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2584G>C	1.37:g.53716454C>G	ENSP00000303634:p.Asp862His		53489042	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062222	0.93846	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.42	5.42	0.78866	.	.	.	.	.	T	0.66733	0.2819	M	0.85777	2.775	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.998;1.0;0.999	T	0.72286	-0.4338	9	0.87932	D	0	.	19.2098	0.93749	0.0:1.0:0.0:0.0	.	415;658;692;862;862;415	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	H	862;862;415;658;692	ENSP00000303634:D862H;ENSP00000360509:D862H;ENSP00000437009:D415H;ENSP00000346391:D658H;ENSP00000334522:D692H	ENSP00000303634:D862H	D	-	1	0	LRP8	53489042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.807000	0.86032	2.528000	0.85240	0.563000	0.77884	GAC		0.468	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		G	53716454	C	G	53716454	3	3	367	1	0	0	0	0	1	0	0	0	8963	826	29	3	319	3	LRP8	1	53716454	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	7214795	53716454	195534167	5	20215											
HFM1	164045	genome.wustl.edu	37	1	91731665	91731665	+	Splice_Site	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:91731665C>T	ENST00000370425.3	-	36	3982		c.e36-1		HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCCAAATCCTATGTGAAGA	0.373																																																0			1											132	117	122					1																	91731665		1840	4084	5924	91504253	SO:0001630	splice_region_variant	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3884-1G>A	1.37:g.91731665C>T			91504253	B1B0B6|Q8N9Q0	Splice_Site	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778346	0.70107	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000430465	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5504	0.68061	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HFM1	91504253	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.140000	0.58031	2.581000	0.87130	0.655000	0.94253	.		0.373	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Intron	T	91731665	C	T	91731665	5	4	367	1	0	0	0	0	0	0	1	0	7083	695	24	2	440	2	HFM1	1	91731665	Splice_Site	SNP	C	TCGA-30-1857-01A-02W-0639-09	38015211	91731665	157518956	6	20216											
BCAN	63827	genome.wustl.edu	37	1	156626837	156626837	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:156626837G>C	ENST00000329117.5	+	10	2494	c.2158G>C	c.(2158-2160)Ggc>Cgc	p.G720R	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	720	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGGATGTACGGCGCGCATCT	0.637																																																0			1											58	61	60					1																	156626837		2203	4300	6503	154893461	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2158G>C	1.37:g.156626837G>C	ENSP00000331210:p.Gly720Arg		154893461	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016364	0.93404	.	.	ENSG00000132692	ENST00000329117	T	0.26957	1.7	5.05	5.05	0.67936	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000017	T	0.50034	0.1592	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56667	-0.7941	10	0.72032	D	0.01	-24.9936	17.1361	0.86740	0.0:0.0:1.0:0.0	.	720	Q96GW7	PGCB_HUMAN	R	720	ENSP00000331210:G720R	ENSP00000331210:G720R	G	+	1	0	BCAN	154893461	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	5.457000	0.66672	2.641000	0.89580	0.561000	0.74099	GGC		0.637	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		C	156626837	G	C	156626837	3	2	367	1	0	0	0	0	1	0	0	0	1345	1116	39	3	2266	3	BCAN	1	156626837	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	64895172	156626837	92623784	7	20217											
INSRR	3645	genome.wustl.edu	37	1	156815576	156815576	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:156815576G>T	ENST00000368195.3	-	10	2405	c.2009C>A	c.(2008-2010)cCg>cAg	p.P670Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	670	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCGAAGCGCGGATCGTTGTT	0.677																																																0			1											28	25	26					1																	156815576		2203	4298	6501	155082200	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2009C>A	1.37:g.156815576G>T	ENSP00000357178:p.Pro670Gln		155082200	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867852	0.32977	.	.	ENSG00000027644	ENST00000368195	T	0.70045	-0.45	4.69	4.69	0.59074	Fibronectin, type III (3);	0.295187	0.24585	N	0.037267	T	0.33760	0.0874	.	.	.	0.29630	N	0.845556	B	0.09022	0.002	B	0.08055	0.003	T	0.03910	-1.0993	9	0.17369	T	0.5	.	15.4999	0.75691	0.0:0.0:1.0:0.0	.	670	P14616	INSRR_HUMAN	Q	670	ENSP00000357178:P670Q	ENSP00000357178:P670Q	P	-	2	0	INSRR	155082200	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.552000	0.53705	2.606000	0.88127	0.561000	0.74099	CCG		0.677	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156815576	G	T	156815576	3	4	367	1	0	0	0	0	1	0	0	0	7774	1116	39	3	1935	3	INSRR	1	156815576	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	188739	156815576	92435045	8	20218											
C1orf112	55732	genome.wustl.edu	37	1	169811639	169811639	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:169811639G>A	ENST00000286031.6	+	18	2507	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	C1orf112_ENST00000359326.4_Missense_Mutation_p.E603K|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	603										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCAATTATCGAAGTTGTGAG	0.363																																																0			1											141	135	137					1																	169811639		2203	4300	6503	168078263	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1807G>A	1.37:g.169811639G>A	ENSP00000286031:p.Glu603Lys		168078263	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185148	0.38609	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.42131	0.98;0.98	5.18	4.26	0.50523	.	0.491266	0.24674	N	0.036540	T	0.18551	0.0445	L	0.50919	1.6	0.54753	D	0.999987	B;B	0.24651	0.108;0.108	B;B	0.15870	0.014;0.014	T	0.03148	-1.1067	10	0.18276	T	0.48	-7.2057	10.4753	0.44661	0.0906:0.0:0.9094:0.0	.	545;603	B4DGF2;Q9NSG2	.;CA112_HUMAN	K	603	ENSP00000352276:E603K;ENSP00000286031:E603K	ENSP00000286031:E603K	E	+	1	0	C1orf112	168078263	0.982000	0.34865	0.877000	0.34402	0.911000	0.54048	3.296000	0.51802	2.572000	0.86782	0.655000	0.94253	GAA		0.363	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		A	169811639	G	A	169811639	3	1	367	1	0	0	0	0	1	0	0	0	1985	1059	37	1	1869	1	C1orf112	1	169811639	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	12996063	169811639	79438982	9	20219											
ACTA1	58	genome.wustl.edu	37	1	229568609	229568609	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr1:229568609C>A	ENST00000366684.3	-	3	250	c.148G>T	c.(148-150)Ggt>Tgt	p.G50C	ACTA1_ENST00000366683.2_Missense_Mutation_p.G50C	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	50					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TCTTTCTGACCCATACCGACC	0.622																																																0			1											53	55	54					1																	229568609		2203	4300	6503	227635232	SO:0001583	missense	58			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.148G>T	1.37:g.229568609C>A	ENSP00000355645:p.Gly50Cys		227635232	P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820179	0.50633	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.92805	-3.11;-3.11	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	H	0.94264	3.515	0.43540	D	0.995837	P	0.51057	0.941	P	0.59115	0.852	D	0.97869	1.0285	10	0.87932	D	0	.	16.5419	0.84395	0.0:1.0:0.0:0.0	.	50	P68133	ACTS_HUMAN	C	50	ENSP00000355645:G50C;ENSP00000355644:G50C	ENSP00000312351:G50C	G	-	1	0	ACTA1	227635232	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.651000	0.83577	2.431000	0.82371	0.655000	0.94253	GGT		0.622	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		A	229568609	C	A	229568609	3	1	367	1	0	0	0	0	1	0	0	0	191	623	22	3	1005	3	ACTA1	1	229568609	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	59756970	229568609	19682012	10	20220											
GPR113	165082	genome.wustl.edu	37	2	26534549	26534549	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr2:26534549C>T	ENST00000311519.1	-	11	2046	c.2047G>A	c.(2047-2049)Ggc>Agc	p.G683S	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.G484S|GPR113_ENST00000421160.2_Missense_Mutation_p.G614S|GPR113_ENST00000541401.1_Missense_Mutation_p.G286S	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	683					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGACCAGGCCAGGAGTGGCA	0.532																																																0			2											53	53	53					2																	26534549		2203	4300	6503	26388053	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2047G>A	2.37:g.26534549C>T	ENSP00000307831:p.Gly683Ser		26388053	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902871	0.52227	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.28069	1.67;1.63;1.69;1.63	5.84	4.96	0.65561	.	.	.	.	.	T	0.40171	0.1106	L	0.50333	1.59	0.30020	N	0.814453	P;P;P;P	0.46578	0.88;0.854;0.754;0.743	P;P;P;P	0.53809	0.735;0.54;0.669;0.591	T	0.14035	-1.0487	9	0.26408	T	0.33	-10.7596	11.9707	0.53062	0.0:0.9175:0.0:0.0825	.	614;484;683;286	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	S	286;484;614;683	ENSP00000445729:G286S;ENSP00000327396:G484S;ENSP00000388537:G614S;ENSP00000307831:G683S	ENSP00000307831:G683S	G	-	1	0	GPR113	26388053	0.006000	0.16342	0.224000	0.23877	0.901000	0.52897	1.904000	0.39868	2.758000	0.94735	0.655000	0.94253	GGC		0.532	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		T	26534549	C	T	26534549	3	4	367	1	0	0	0	0	1	0	0	0	6630	594	21	2	1293	2	GPR113	2	26534549	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09		26534549	216664824	11	20221											
OXER1	165140	genome.wustl.edu	37	2	42991162	42991162	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr2:42991162G>T	ENST00000378661.2	-	1	239	c.158C>A	c.(157-159)tCc>tAc	p.S53Y		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	53	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						aacagaggaggagagagaggg	0.612																																																0			2											61	51	54					2																	42991162		2203	4300	6503	42844666	SO:0001583	missense	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.158C>A	2.37:g.42991162G>T	ENSP00000367930:p.Ser53Tyr		42844666	Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151588	0.38021	.	.	ENSG00000162881	ENST00000378661	T	0.61274	0.12	2.24	1.28	0.21552	.	.	.	.	.	T	0.30324	0.0761	N	0.08118	0	0.09310	N	1	P	0.34699	0.464	B	0.22152	0.038	T	0.12268	-1.0554	9	0.66056	D	0.02	.	7.0598	0.25119	0.0:0.2851:0.7148:0.0	.	53	Q8TDS5	OXER1_HUMAN	Y	53	ENSP00000367930:S53Y	ENSP00000367930:S53Y	S	-	2	0	OXER1	42844666	0.954000	0.32549	0.001000	0.08648	0.009000	0.06853	2.208000	0.42797	0.217000	0.20800	0.305000	0.20034	TCC		0.612	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		T	42991162	G	T	42991162	3	4	367	1	0	0	0	0	1	0	0	0	11331	1174	41	3	1117	3	OXER1	2	42991162	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	16456613	42991162	200208211	12	20222											
DYNC2LI1	51626	genome.wustl.edu	37	2	44023072	44023072	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr2:44023072T>A	ENST00000260605.8	+	7	651	c.551T>A	c.(550-552)aTt>aAt	p.I184N	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.I58N|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.I185N|DYNC2LI1_ENST00000489222.2_3'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	184					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGTCATAATTGGAAGTAAA	0.358																																																0			2											130	128	129					2																	44023072		2203	4300	6503	43876576	SO:0001583	missense	51626				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"Cytoplasmic dyneins"	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.551T>A	2.37:g.44023072T>A	ENSP00000260605:p.Ile184Asn		43876576	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.048247|4.048247	0.75846|0.75846	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000260605;ENST00000443170|ENST00000378587	T;T|.	0.35236|.	1.32;1.32|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.199811|.	0.53938|.	D|.	0.000060|.	T|T	0.64853|0.64853	0.2636|0.2636	M|M	0.66939|0.66939	2.045|2.045	0.50813|0.50813	D|D	0.999899|0.999899	D;D;D|.	0.65815|.	0.995;0.992;0.987|.	D;P;D|.	0.67900|.	0.954;0.901;0.922|.	T|T	0.64905|0.64905	-0.6297|-0.6297	10|5	0.87932|.	D|.	0|.	-20.301|-20.301	9.7383|9.7383	0.40401|0.40401	0.0:0.0768:0.0:0.9232|0.0:0.0768:0.0:0.9232	.|.	185;184;184|.	Q8TCX1-2;Q8TCX1;Q8TCX1-3|.	.;DC2L1_HUMAN;.|.	N|M	184;58|168	ENSP00000260605:I184N;ENSP00000388941:I58N|.	ENSP00000260605:I184N|.	I|L	+|+	2|1	0|2	DYNC2LI1|DYNC2LI1	43876576|43876576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.106000|5.106000	0.64597|0.64597	2.197000|2.197000	0.70478|0.70478	0.482000|0.482000	0.46254|0.46254	ATT|TTG		0.358	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		A	44023072	T	A	44023072	3	1	367	1	0	0	0	0	1	0	0	0	4847	1493	52	5	676	5	DYNC2LI1	2	44023072	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09	1031910	44023072	199176301	13	20223											
ANAPC1	64682	genome.wustl.edu	37	2	112566716	112566716	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr2:112566716C>A	ENST00000341068.3	-	29	4412	c.3640G>T	c.(3640-3642)Gct>Tct	p.A1214S		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1214					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGTTTTGCAGCAGAAACACCA	0.418																																																0			2											15	14	15					2																	112566716		1489	3139	4628	112283187	SO:0001583	missense	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.3640G>T	2.37:g.112566716C>A	ENSP00000339109:p.Ala1214Ser		112283187	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.12|18.12	3.553622|3.553622	0.65425|0.65425	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	T|.	0.25250|.	1.81|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.000000|.	0.37715|.	U|.	0.001976|.	T|T	0.75236|0.75236	0.3822|0.3822	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	P|.	0.38473|.	0.633|.	B|.	0.29862|.	0.108|.	T|T	0.75233|0.75233	-0.3390|-0.3390	10|5	0.42905|.	T|.	0.14|.	-19.5691|-19.5691	18.0978|18.0978	0.89496|0.89496	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1214|.	Q9H1A4|.	APC1_HUMAN|.	S|F	1214|748	ENSP00000339109:A1214S|.	ENSP00000339109:A1214S|.	A|C	-|-	1|2	0|0	ANAPC1|ANAPC1	112283187|112283187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.989000|5.989000	0.70587|0.70587	2.491000|2.491000	0.84063|0.84063	0.563000|0.563000	0.77884|0.77884	GCT|TGC		0.418	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		A	112566716	C	A	112566716	3	1	367	1	0	0	0	0	1	0	0	0	598	710	25	3	2274	3	ANAPC1	2	112566716	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	68543644	112566716	130632657	14	20224											
LCT	3938	genome.wustl.edu	37	2	136594437	136594437	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr2:136594437G>C	ENST00000264162.2	-	1	313	c.303C>G	c.(301-303)agC>agG	p.S101R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	101	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GATTCTGGGTGCTTCCTGCTG	0.547																																																0			2											92	89	90					2																	136594437		2203	4300	6503	136310907	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.303C>G	2.37:g.136594437G>C	ENSP00000264162:p.Ser101Arg		136310907	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	g	0.555	-0.847946	0.02651	.	.	ENSG00000115850	ENST00000264162	T	0.31510	1.49	5.83	3.99	0.46301	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.941677	0.09128	N	0.844766	T	0.18299	0.0439	N	0.16368	0.405	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32745	-0.9895	10	0.12766	T	0.61	-5.7079	8.4521	0.32877	0.1361:0.3191:0.5448:0.0	.	101	P09848	LPH_HUMAN	R	101	ENSP00000264162:S101R	ENSP00000264162:S101R	S	-	3	2	LCT	136310907	0.001000	0.12720	0.031000	0.17742	0.101000	0.19017	0.152000	0.16302	0.782000	0.33613	0.651000	0.88453	AGC		0.547	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		C	136594437	G	C	136594437	3	2	367	1	0	0	0	0	1	0	0	0	8693	1310	46	3	5548	3	LCT	2	136594437	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	24027721	136594437	106604936	15	20225											
CXCR2	3579	genome.wustl.edu	37	2	218999759	218999759	+	Missense_Mutation	SNP	G	G	A	rs149364972	byFrequency	TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr2:218999759G>A	ENST00000318507.2	+	3	662	c.235G>A	c.(235-237)Ggc>Agc	p.G79S		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	79					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CAGCAGGGTCGGCCGCTCCGT	0.542													G|||	7	0.00139776	0.0045	0.0014	5008	,	,		20817	0		0	False		,,,				2504	0															0			2						G	SER/GLY,SER/GLY	26,4380	32.6+/-62.9	0,26,2177	136	130	132		235,235	-3.8	0	2	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense	CXCR2	NM_001168298.1,NM_001557.3	56,56	0,26,6477	AA,AG,GG		0.0,0.5901,0.1999	benign,benign	79/361,79/361	218999759	26,12980	2203	4300	6503	218708004	SO:0001583	missense	3579			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.235G>A	2.37:g.218999759G>A	ENSP00000319635:p.Gly79Ser		218708004	Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	CCDS2408.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	4.793	0.147493	0.09134	0.005901	0.0	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.19	-3.78	0.04333	GPCR, rhodopsin-like superfamily (1);	0.539636	0.20217	N	0.096775	T	0.05364	0.0142	N	0.01640	-0.785	0.09310	N	1	B	0.18013	0.025	B	0.12156	0.007	T	0.29181	-1.0020	10	0.08179	T	0.78	.	3.0117	0.06046	0.385:0.1193:0.379:0.1167	.	79	P25025	CXCR2_HUMAN	S	79	ENSP00000413686:G79S;ENSP00000392348:G79S;ENSP00000319635:G79S;ENSP00000415148:G79S;ENSP00000392698:G79S	ENSP00000319635:G79S	G	+	1	0	CXCR2	218708004	0.000000	0.05858	0.017000	0.16124	0.532000	0.34746	-0.162000	0.10012	-0.427000	0.07350	-0.265000	0.10407	GGC		0.542	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		A	218999759	G	A	218999759	3	1	367	1	0	0	0	0	1	0	0	0	4091	1116	39	1	237	1	CXCR2	2	218999759	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	82405322	218999759	24199614	16	20226											
DNAJB3	54578	genome.wustl.edu	37	2	234652221	234652221	+	Intron	SNP	G	G	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr2:234652221G>C	ENST00000305139.6	+	2	1000				UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000609767.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGTTTCCCAAGAGGTCAAAGG	0.577																																																0			2											38	44	42					2																	234652221		1835	4077	5912	234316960	SO:0001627	intron_variant	414061			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23459G>C	2.37:g.234652221G>C			234316960	A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	CCDS2507.1																																																																																				0.577	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		C	234652221	G	C	234652221	1	2	367	0	1	0	0	0	0	0	0	0	4621	929	33	3		3	DNAJB3	2	234652221	Intron	SNP	G	TCGA-30-1857-01A-02W-0639-09	15652462	234652221	8547152	17	20227											
C3orf26	84319	genome.wustl.edu	37	3	99886581	99886581	+	Splice_Site	SNP	G	G	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr3:99886581G>C	ENST00000421999.2	+	6	561		c.e6-1		CMSS1_ENST00000489081.1_Splice_Site	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)								poly(A) RNA binding (GO:0044822)										CTTTTTTCCAGTTTGTCCTAA	0.418																																																0			3											153	158	156					3																	99886581		2203	4300	6503	101369271	SO:0001630	splice_region_variant	84319				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.416-1G>C	3.37:g.99886581G>C			101369271	A8K5S7|B4DUM1|E9PHS3	Splice_Site	SNP	ENST00000421999.2	37	CCDS2935.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306012	0.40795	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909;ENST00000497345	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2327	0.89939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf26	101369271	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	8.201000	0.89735	2.642000	0.89623	0.655000	0.94253	.		0.418	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359	Intron	C	99886581	G	C	99886581	5	2	367	1	0	0	0	0	0	0	1	0	2218	1043	36	3	451	3	C3orf26	3	99886581	Splice_Site	SNP	G	TCGA-30-1857-01A-02W-0639-09		99886581	98135849	18	20228											
ACAD11	84129	genome.wustl.edu	37	3	132337565	132337565	+	Missense_Mutation	SNP	C	C	T	rs141257781	byFrequency	TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr3:132337565C>T	ENST00000264990.6	-	11	2298	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R	ACAD11_ENST00000355458.3_Missense_Mutation_p.G443R|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.G443R	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	443					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGGCTGAGTCCGCTGACAGCT	0.458													C|||	3	0.000599042	8e-04	0	5008	,	,		14717	0		0	False		,,,				2504	0.002															0			3						C	ARG/GLY	0,4406		0,0,2203	81	78	79		1327	4.7	0.9	3	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACAD11	NM_032169.4	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		443/781	132337565	1,13005	2203	4300	6503	133820255	SO:0001583	missense	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1327G>A	3.37:g.132337565C>T	ENSP00000264990:p.Gly443Arg		133820255	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	CCDS3074.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.26	3.071718	0.55646	0.0	1.16E-4	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.99891	-7.56;-7.56;1.21	5.52	4.65	0.58169	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.	.	.	.	D	0.99883	0.9944	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;0.998	P;D	0.74674	0.908;0.984	D	0.96671	0.9496	9	0.62326	D	0.03	.	10.5202	0.44914	0.0:0.8499:0.0:0.1501	.	443;443	D6RDI8;Q709F0	.;ACD11_HUMAN	R	443	ENSP00000347636:G443R;ENSP00000264990:G443R;ENSP00000420907:G443R	ENSP00000264990:G443R	G	-	1	0	ACAD11	133820255	0.999000	0.42202	0.948000	0.38648	0.255000	0.26057	4.621000	0.61233	1.474000	0.48178	-0.142000	0.14014	GGA		0.458	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		T	132337565	C	T	132337565	3	4	367	1	0	0	0	0	1	0	0	0	109	661	23	1	1055	1	ACAD11	3	132337565	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	32450984	132337565	65684865	19	20229											
CLSTN2	64084	genome.wustl.edu	37	3	140123480	140123480	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr3:140123480C>T	ENST00000458420.3	+	4	699	c.509C>T	c.(508-510)aCg>aTg	p.T170M	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.T170M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCTGTTGTGACGGAGGGCAAG	0.532										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)											1	Substitution - Missense(1)	large_intestine(1)	3											134	106	116					3																	140123480		2203	4300	6503	141606170	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.509C>T	3.37:g.140123480C>T	ENSP00000402460:p.Thr170Met		141606170	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698744	0.48307	.	.	ENSG00000158258	ENST00000458420	T	0.51071	0.72	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.43923	1.385	0.45747	D	0.998642	D	0.89917	1.0	D	0.74023	0.982	T	0.59091	-0.7519	10	0.45353	T	0.12	-23.1038	17.2492	0.87037	0.0:1.0:0.0:0.0	.	170	Q9H4D0	CSTN2_HUMAN	M	170	ENSP00000402460:T170M	ENSP00000402460:T170M	T	+	2	0	CLSTN2	141606170	0.752000	0.28338	0.768000	0.31515	0.875000	0.50365	1.459000	0.35234	2.665000	0.90641	0.563000	0.77884	ACG		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		T	140123480	C	T	140123480	3	4	367	1	0	0	0	0	1	0	0	0	3562	536	19	1	523	1	CLSTN2	3	140123480	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	7785915	140123480	57898950	20	20230											
TM4SF4	7104	genome.wustl.edu	37	3	149193613	149193613	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr3:149193613A>G	ENST00000305354.4	+	2	1082	c.178A>G	c.(178-180)Atc>Gtc	p.I60V		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	60					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTGGTAGATGATCTTCCCTGC	0.572																																																0			3											47	49	48					3																	149193613		2027	4185	6212	150676303	SO:0001583	missense	7104				CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"transmembrane 4 superfamily member 4"			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.178A>G	3.37:g.149193613A>G	ENSP00000305852:p.Ile60Val		150676303	B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060147	0.36373	.	.	ENSG00000169903	ENST00000305354	T	0.33865	1.39	5.09	2.63	0.31362	.	0.142073	0.64402	N	0.000007	T	0.38506	0.1043	M	0.85710	2.77	0.53005	D	0.999968	B	0.30793	0.295	B	0.32677	0.15	T	0.09997	-1.0649	10	0.27785	T	0.31	.	6.254	0.20864	0.721:0.1353:0.1437:0.0	.	60	P48230	T4S4_HUMAN	V	60	ENSP00000305852:I60V	ENSP00000305852:I60V	I	+	1	0	TM4SF4	150676303	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	3.902000	0.56310	0.329000	0.23460	-0.290000	0.09829	ATC		0.572	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			G	149193613	A	G	149193613	3	3	367	1	0	0	0	0	1	0	0	0	15970	333	12	4	184	4	TM4SF4	3	149193613	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09	9070133	149193613	48828817	21	20231											
MASP1	5648	genome.wustl.edu	37	3	186937894	186937894	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr3:186937894C>G	ENST00000337774.5	-	16	2454	c.2065G>C	c.(2065-2067)Gac>Cac	p.D689H		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	689	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGATCCAGTCCTTGTTGTGG	0.567											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			3											141	124	130					3																	186937894		2203	4300	6503	188420588	SO:0001583	missense	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.2065G>C	3.37:g.186937894C>G	ENSP00000336792:p.Asp689His	2011	188420588	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102434	0.37145	.	.	ENSG00000127241	ENST00000337774	D	0.94613	-3.47	6.14	4.2	0.49525	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92805	0.7712	M	0.79475	2.455	0.38645	D	0.95169	P	0.37636	0.603	B	0.33196	0.159	D	0.91708	0.5379	9	0.66056	D	0.02	.	10.9213	0.47167	0.0:0.8376:0.0:0.1624	.	689	P48740	MASP1_HUMAN	H	689	ENSP00000336792:D689H	ENSP00000336792:D689H	D	-	1	0	MASP1	188420588	0.065000	0.20965	0.422000	0.26621	0.914000	0.54420	0.584000	0.23864	0.810000	0.34279	0.650000	0.86243	GAC		0.567	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		G	186937894	C	G	186937894	3	3	367	1	0	0	0	0	1	0	0	0	9322	855	30	3	38	3	MASP1	3	186937894	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	37744281	186937894	11084536	22	20232											
BOD1L	259282	genome.wustl.edu	37	4	13603402	13603402	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr4:13603402C>G	ENST00000040738.5	-	10	5257	c.5122G>C	c.(5122-5124)Gat>Cat	p.D1708H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1708						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGGAGCCATCCACCTCTTCA	0.423																																																0			4											181	188	186					4																	13603402		2203	4300	6503	13212500	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5122G>C	4.37:g.13603402C>G	ENSP00000040738:p.Asp1708His		13212500	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628985	0.46944	.	.	ENSG00000038219	ENST00000040738	T	0.08984	3.03	4.59	3.74	0.42951	.	0.218722	0.31760	N	0.007107	T	0.12263	0.0298	L	0.34521	1.04	0.18873	N	0.999987	D	0.60160	0.987	P	0.54460	0.753	T	0.04165	-1.0972	10	0.66056	D	0.02	-0.5986	9.9769	0.41789	0.0:0.7826:0.1387:0.0788	.	1708	Q8NFC6	BOD1L_HUMAN	H	1708	ENSP00000040738:D1708H	ENSP00000040738:D1708H	D	-	1	0	BOD1L	13212500	.	.	0.063000	0.19743	0.785000	0.44390	.	.	1.029000	0.39812	0.555000	0.69702	GAT		0.423	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		G	13603402	C	G	13603402	3	3	367	1	0	0	0	0	1	0	0	0	1483	855	30	3	4101	3	BOD1L	4	13603402	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09		13603402	177550874	23	20233											
SLIT2	9353	genome.wustl.edu	37	4	20620450	20620450	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr4:20620450G>T	ENST00000504154.1	+	37	4660	c.4408G>T	c.(4408-4410)Gct>Tct	p.A1470S	SLIT2_ENST00000503837.1_Missense_Mutation_p.A1466S|SLIT2_ENST00000503823.1_Missense_Mutation_p.A1462S|SLIT2_ENST00000273739.5_Missense_Mutation_p.A1483S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1470	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGGCTATGCTGCTTGCCAAAC	0.483																																																0			4											109	98	102					4																	20620450		2203	4300	6503	20229548	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4408G>T	4.37:g.20620450G>T	ENSP00000422591:p.Ala1470Ser		20229548	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639210	0.29157	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80304	-1.35;-1.36;-1.27;-1.32	6.07	5.22	0.72569	Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	N	0.13098	0.295	0.80722	D	1	B;B	0.31968	0.013;0.349	B;B	0.29862	0.036;0.108	T	0.63545	-0.6613	10	0.07990	T	0.79	.	16.8899	0.86084	0.0:0.0:0.8708:0.1292	.	1462;1470	O94813-3;O94813	.;SLIT2_HUMAN	S	1462;1470;1483;1466;1466	ENSP00000427548:A1462S;ENSP00000422591:A1470S;ENSP00000273739:A1483S;ENSP00000422261:A1466S	ENSP00000273739:A1483S	A	+	1	0	SLIT2	20229548	1.000000	0.71417	0.815000	0.32552	0.874000	0.50279	6.671000	0.74472	1.565000	0.49641	0.655000	0.94253	GCT		0.483	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			T	20620450	G	T	20620450	3	4	367	1	0	0	0	0	1	0	0	0	14743	1319	46	3	4554	3	SLIT2	4	20620450	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	7017048	20620450	170533826	24	20234											
TTC29	83894	genome.wustl.edu	37	4	147628654	147628654	+	Silent	SNP	A	A	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr4:147628654A>G	ENST00000325106.4	-	12	1606	c.1380T>C	c.(1378-1380)cgT>cgC	p.R460R	TTC29_ENST00000398886.4_Silent_p.R486R|TTC29_ENST00000513335.1_Silent_p.R486R	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	460										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GTTCTTCCAAACGTTCTGAGT	0.318																																																0			4											127	121	123					4																	147628654		1817	4074	5891	147848104	SO:0001819	synonymous_variant	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1380T>C	4.37:g.147628654A>G			147848104	A4GU95|Q9BXB6	Silent	SNP	ENST00000325106.4	37	CCDS47141.1																																																																																				0.318	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		G	147628654	A	G	147628654	2	3	367	1	0	0	0	0	0	0	0	1	16696	30	2	4		4	TTC29	4	147628654	Silent	SNP	A	TCGA-30-1857-01A-02W-0639-09	127008204	147628654	43525622	25	20235											
FASTKD3	79072	genome.wustl.edu	37	5	7866095	7866095	+	Splice_Site	SNP	A	A	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr5:7866095A>T	ENST00000264669.5	-	3	1576	c.1440T>A	c.(1438-1440)ggT>ggA	p.G480G	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	480					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGATTCTTTACCTGAAACAG	0.403																																																0			5											190	157	168					5																	7866095		2203	4300	6503	7919095	SO:0001630	splice_region_variant	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1439-1T>A	5.37:g.7866095A>T			7919095	Q9BVD3	Silent	SNP	ENST00000264669.5	37	CCDS3873.1																																																																																				0.403	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	Silent	T	7866095	A	T	7866095	5	4	367	1	0	0	0	0	0	0	1	0	5687	405	14	5	568	5	FASTKD3	5	7866095	Splice_Site	SNP	A	TCGA-30-1857-01A-02W-0639-09		7866095	173049165	26	20236											
ODZ2	57451	genome.wustl.edu	37	5	167674535	167674535	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr5:167674535T>G	ENST00000518659.1	+	27	6630	c.6591T>G	c.(6589-6591)aaT>aaG	p.N2197K	TENM2_ENST00000519204.1_Missense_Mutation_p.N2076K|TENM2_ENST00000520394.1_Missense_Mutation_p.N1958K|TENM2_ENST00000403607.2_Missense_Mutation_p.N2021K|TENM2_ENST00000545108.1_Missense_Mutation_p.N2196K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2197					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCTATGCCAATACCACGAAGT	0.552																																																0			5											89	88	88					5																	167674535		2067	4205	6272	167607113	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6591T>G	5.37:g.167674535T>G	ENSP00000429430:p.Asn2197Lys		167607113	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	T	16.41	3.115545	0.56505	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90385	-2.2;-2.19;-2.31;-2.64;-2.66	5.59	2.25	0.28309	.	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.90595	3.13	0.47994	D	0.999569	P;P;B	0.45594	0.862;0.783;0.449	P;B;B	0.51866	0.682;0.326;0.098	D	0.93805	0.7104	10	0.66056	D	0.02	.	11.879	0.52564	0.0:0.7742:0.0:0.2258	.	2196;2197;1958	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	2197;2196;2076;1958;2021	ENSP00000429430:N2197K;ENSP00000438635:N2196K;ENSP00000428964:N2076K;ENSP00000427874:N1958K;ENSP00000384905:N2021K	ENSP00000384905:N2021K	N	+	3	2	ODZ2	167607113	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.348000	0.52209	0.719000	0.32188	-0.337000	0.08149	AAT		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		G	167674535	T	G	167674535	3	3	367	1	0	0	0	0	1	0	0	0	10835	1403	49	5	6670	5	ODZ2	5	167674535	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09	159808440	167674535	13240725	27	20237											
STK10	6793	genome.wustl.edu	37	5	171520948	171520948	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr5:171520948G>C	ENST00000176763.5	-	9	1365	c.1022C>G	c.(1021-1023)aCt>aGt	p.T341S	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	341					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGAGTTCTGAGTATGGTTCTC	0.493																																																0			5											28	29	28					5																	171520948		2047	4210	6257	171453553	SO:0001583	missense	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1022C>G	5.37:g.171520948G>C	ENSP00000176763:p.Thr341Ser		171453553	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.854443	0.00558	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.51574	0.7	4.78	1.67	0.24075	Protein kinase-like domain (1);	0.818608	0.11186	N	0.590406	T	0.27241	0.0668	N	0.22421	0.69	0.29365	N	0.864387	B	0.02656	0.0	B	0.06405	0.002	T	0.30563	-0.9974	10	0.07325	T	0.83	.	6.9778	0.24686	0.0:0.1721:0.4738:0.3541	.	341	O94804	STK10_HUMAN	S	341	ENSP00000176763:T341S	ENSP00000176763:T341S	T	-	2	0	STK10	171453553	0.994000	0.37717	0.855000	0.33649	0.048000	0.14542	1.493000	0.35605	0.498000	0.27948	0.655000	0.94253	ACT		0.493	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		C	171520948	G	C	171520948	3	2	367	1	0	0	0	0	1	0	0	0	15288	1029	36	3	1928	3	STK10	5	171520948	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	3846413	171520948	9394312	28	20238											
COL23A1	91522	genome.wustl.edu	37	5	177674551	177674551	+	Silent	SNP	G	G	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr5:177674551G>A	ENST00000390654.3	-	22	1629	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	424	Collagen-like 4.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TTCCCTGGAGGCCCTGCAGGA	0.637																																																0			5											43	51	48					5																	177674551		1976	4159	6135	177607157	SO:0001819	synonymous_variant	91522			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1272C>T	5.37:g.177674551G>A			177607157	Q8IVR4|Q9NT93	Silent	SNP	ENST00000390654.3	37	CCDS4436.1																																																																																				0.637	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		A	177674551	G	A	177674551	2	1	367	1	0	0	0	0	0	0	0	1	3682	1190	42	2		2	COL23A1	5	177674551	Silent	SNP	G	TCGA-30-1857-01A-02W-0639-09	6153603	177674551	3240709	29	20239											
C6orf105	84830	genome.wustl.edu	37	6	11723649	11723649	+	Silent	SNP	G	G	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr6:11723649G>A	ENST00000414691.3	-	5	1001	c.591C>T	c.(589-591)ttC>ttT	p.F197F	ADTRP_ENST00000229583.5_Silent_p.F215F|ADTRP_ENST00000379413.2_Silent_p.F197F|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AGCTGAGAGAGAAGAAAGCTG	0.483																																																0			6											203	202	203					6																	11723649		2203	4300	6503	11831635	SO:0001819	synonymous_variant	84830			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.591C>T	6.37:g.11723649G>A			11831635	B2R7T9|B4DV39|Q5THW1	Silent	SNP	ENST00000414691.3	37	CCDS4521.1																																																																																				0.483	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		A	11723649	G	A	11723649	2	1	367	1	0	0	0	0	0	0	0	1	2318	933	33	2		2	C6orf105	6	11723649	Silent	SNP	G	TCGA-30-1857-01A-02W-0639-09		11723649	159391418	30	20240											
OR2J3	442186	genome.wustl.edu	37	6	29080427	29080427	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr6:29080427T>A	ENST00000377169.1	+	1	760	c.760T>A	c.(760-762)Ttt>Att	p.F254I		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTATCTCTCTTTTTCATTCC	0.458																																																0			6											113	114	114					6																	29080427		1253	2567	3820	29188406	SO:0001583	missense	442186				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.760T>A	6.37:g.29080427T>A	ENSP00000366374:p.Phe254Ile		29188406	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490321	0.44249	.	.	ENSG00000204701	ENST00000377169	T	0.00289	8.28	2.46	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	H	0.94345	3.525	0.40878	D	0.983971	D	0.89917	1.0	D	0.79108	0.992	T	0.53718	-0.8399	9	0.87932	D	0	.	10.2503	0.43364	0.0:0.0:0.0:1.0	.	254	O76001	OR2J3_HUMAN	I	254	ENSP00000366374:F254I	ENSP00000366374:F254I	F	+	1	0	OR2J3	29188406	0.548000	0.26473	0.983000	0.44433	0.212000	0.24457	5.678000	0.68153	1.121000	0.41925	0.358000	0.22013	TTT		0.458	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			A	29080427	T	A	29080427	3	1	367	1	0	0	0	0	1	0	0	0	11004	1609	56	5	762	5	OR2J3	6	29080427	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09	17356778	29080427	142034640	31	20241											
RELN	5649	genome.wustl.edu	37	7	103557542	103557542	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr7:103557542C>T	ENST00000428762.1	-	2	476	c.317G>A	c.(316-318)gGt>gAt	p.G106D	RELN_ENST00000424685.2_Missense_Mutation_p.G106D|RELN_ENST00000343529.5_Missense_Mutation_p.G106D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	106	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCACTGGAACCTCCAATGCT	0.388																																					NSCLC(146;835 1944 15585 22231 52158)											0			7											127	126	126					7																	103557542		2203	4300	6503	103344778	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.317G>A	7.37:g.103557542C>T	ENSP00000392423:p.Gly106Asp		103344778	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439559	0.63067	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25414	1.8;1.8;1.8	5.48	5.48	0.80851	Reeler domain (2);	0.075935	0.53938	D	0.000047	T	0.34019	0.0883	N	0.08118	0	0.47441	D	0.999429	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.47114	-0.9142	10	0.66056	D	0.02	.	18.9525	0.92645	0.0:1.0:0.0:0.0	.	106;106	P78509-2;P78509	.;RELN_HUMAN	D	106	ENSP00000392423:G106D;ENSP00000345694:G106D;ENSP00000388446:G106D	ENSP00000345694:G106D	G	-	2	0	RELN	103344778	0.998000	0.40836	0.942000	0.38095	0.985000	0.73830	5.117000	0.64667	2.577000	0.86979	0.650000	0.86243	GGT		0.388	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103557542	C	T	103557542	3	4	367	1	0	0	0	0	1	0	0	0	13223	507	18	2	10321	2	RELN	7	103557542	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09		103557542	55581121	32	20242											
DOCK4	9732	genome.wustl.edu	37	7	111398748	111398748	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr7:111398748G>T	ENST00000437633.1	-	40	4490	c.4234C>A	c.(4234-4236)Cac>Aac	p.H1412N	DOCK4_ENST00000494651.2_Missense_Mutation_p.H295N|DOCK4_ENST00000428084.1_Missense_Mutation_p.H1421N	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1412	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCCAGATGTGATTCACTTTA	0.423																																																0			7											129	119	122					7																	111398748		1875	4108	5983	111185984	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4234C>A	7.37:g.111398748G>T	ENSP00000404179:p.His1412Asn		111185984	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	7.741	0.701374	0.15172	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	T;T;T	0.14144	2.53;2.53;2.53	5.01	5.01	0.66863	.	0.044381	0.85682	D	0.000000	T	0.04770	0.0129	N	0.00742	-1.23	0.53005	D	0.999963	B;B;B;B;B	0.16603	0.018;0.014;0.002;0.002;0.002	B;B;B;B;B	0.15052	0.012;0.007;0.006;0.006;0.004	T	0.44375	-0.9332	10	0.11182	T	0.66	.	18.8729	0.92324	0.0:0.0:1.0:0.0	.	319;295;1457;1412;1421	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.;.;.;DOCK4_HUMAN;.	N	1400;1421;295;1412;1409	ENSP00000410746:H1421N;ENSP00000440944:H295N;ENSP00000404179:H1412N	ENSP00000345432:H1409N	H	-	1	0	DOCK4	111185984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.406000	0.66357	2.763000	0.94921	0.650000	0.86243	CAC		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111398748	G	T	111398748	3	4	367	1	0	0	0	0	1	0	0	0	4689	1290	45	3	1718	3	DOCK4	7	111398748	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	7841206	111398748	47739915	33	20243											
FOXP2	93986	genome.wustl.edu	37	7	114302148	114302148	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr7:114302148A>C	ENST00000393494.2	+	14	1955	c.1676A>C	c.(1675-1677)cAc>cCc	p.H559P	FOXP2_ENST00000350908.4_Missense_Mutation_p.H559P|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.H584P|FOXP2_ENST00000393491.3_Missense_Mutation_p.H374P|FOXP2_ENST00000393489.3_Missense_Mutation_p.H467P|FOXP2_ENST00000403559.4_Missense_Mutation_p.H576P|FOXP2_ENST00000393498.2_Missense_Mutation_p.H538P			O15409	FOXP2_HUMAN	forkhead box P2	559					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTTAGCCTGCACAAGTGTTTT	0.373																																																0			7											127	118	121					7																	114302148		2203	4300	6503	114089384	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1676A>C	7.37:g.114302148A>C	ENSP00000377132:p.His559Pro		114089384	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185743	0.57909	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D	0.76494	0.991;0.991;0.999;0.991;0.988	D;D;D;D;D	0.87578	0.98;0.98;0.998;0.98;0.977	D	0.99457	1.0942	10	0.87932	D	0	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	558;576;374;559;584	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	P	559;584;576;559;536;467;374	ENSP00000377132:H559P;ENSP00000386200:H584P;ENSP00000385069:H576P;ENSP00000265436:H559P;ENSP00000377129:H467P;ENSP00000377130:H374P	ENSP00000265436:H559P	H	+	2	0	FOXP2	114089384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.279000	0.76181	0.533000	0.62120	CAC		0.373	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		C	114302148	A	C	114302148	3	2	367	1	0	0	0	0	1	0	0	0	6027	159	6	5	1893	5	FOXP2	7	114302148	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09	2903400	114302148	44836515	34	20244											
DGKI	9162	genome.wustl.edu	37	7	137075994	137075994	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr7:137075994C>A	ENST00000288490.5	-	34	3170	c.3170G>T	c.(3169-3171)gGc>gTc	p.G1057V	DGKI_ENST00000453654.2_Missense_Mutation_p.G726V|DGKI_ENST00000424189.2_Missense_Mutation_p.G1070V|DGKI_ENST00000446122.1_Missense_Mutation_p.G1039V|DGKI_ENST00000494390.1_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1057					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTCCTCATGGCCAATGACCTT	0.522																																																0			7											139	123	129					7																	137075994		2203	4300	6503	136726534	SO:0001583	missense	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3170G>T	7.37:g.137075994C>A	ENSP00000288490:p.Gly1057Val		136726534	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671906	0.29693	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.33865	1.95;1.39;1.58	5.92	4.01	0.46588	.	0.603917	0.17070	N	0.188181	T	0.22322	0.0538	N	0.08118	0	0.48288	D	0.999626	B;B	0.19445	0.002;0.036	B;B	0.20184	0.01;0.028	T	0.04153	-1.0973	10	0.30854	T	0.27	.	16.2436	0.82429	0.0:0.5864:0.4136:0.0	.	726;1057	E9PFX6;O75912	.;DGKI_HUMAN	V	726;974;1060;1057;1039	ENSP00000392161:G726V;ENSP00000288490:G1057V;ENSP00000399131:G1039V	ENSP00000288490:G1057V	G	-	2	0	DGKI	136726534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.246000	0.43142	1.502000	0.48669	0.650000	0.86243	GGC		0.522	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		A	137075994	C	A	137075994	3	1	367	1	0	0	0	0	1	0	0	0	4471	739	26	3	31	3	DGKI	7	137075994	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	22773846	137075994	22062669	35	20245											
HTR5A	3361	genome.wustl.edu	37	7	154862937	154862937	+	Missense_Mutation	SNP	G	G	T	rs141719500		TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr7:154862937G>T	ENST00000287907.2	+	1	904	c.328G>T	c.(328-330)Ggt>Tgt	p.G110C	HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.P26H|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.P26H	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	110					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTGGCAGCTAGGTCGGAGGCT	0.662																																																0			7											50	42	45					7																	154862937		2203	4300	6503	154493870	SO:0001583	missense	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.328G>T	7.37:g.154862937G>T	ENSP00000287907:p.Gly110Cys		154493870	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516282|4.516282	0.85495|0.85495	.|.	.|.	ENSG00000157219|ENSG00000220575	ENST00000287907|ENST00000395731;ENST00000543018	T|.	0.51325|.	0.71|.	4.52|4.52	4.52|4.52	0.55395|0.55395	GPCR, rhodopsin-like superfamily (1);|.	0.052450|.	0.85682|.	D|.	0.000000|.	D|D	0.90494|0.90494	0.7022|0.7022	H|H	0.98682|0.98682	4.3|4.3	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.97110	1.0|1.0	D|D	0.94453|0.94453	0.7669|0.7669	10|8	0.87932|0.87932	D|D	0|0	.|.	17.4477|17.4477	0.87583|0.87583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	110|26	P47898|B7Z8E6	5HT5A_HUMAN|.	C|H	110|26	ENSP00000287907:G110C|.	ENSP00000287907:G110C|ENSP00000379080:P26H	G|P	+|-	1|2	0|0	HTR5A|AC093726.4	154493870|154493870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	9.228000|9.228000	0.95250|0.95250	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	GGT|CCT		0.662	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		T	154862937	G	T	154862937	3	4	367	1	0	0	0	0	1	0	0	0	7450	1000	35	3	330	3	HTR5A	7	154862937	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	17786943	154862937	4275726	36	20246											
LOXL2	4017	genome.wustl.edu	37	8	23174541	23174541	+	Silent	SNP	C	C	T	rs146017667	byFrequency	TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr8:23174541C>T	ENST00000389131.3	-	9	1926	c.1557G>A	c.(1555-1557)gcG>gcA	p.A519A		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	519	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGCGGCAGTGCGCCAGGGACA	0.627																																																0			8						C		1,4405	2.1+/-5.4	0,1,2202	70	63	65		1557	-10.8	0	8	dbSNP_134	65	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	LOXL2	NM_002318.2		0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461		519/775	23174541	6,13000	2203	4300	6503	23230486	SO:0001819	synonymous_variant	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1557G>A	8.37:g.23174541C>T			23230486	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	CCDS34864.1																																																																																				0.627	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			T	23174541	C	T	23174541	2	4	367	1	0	0	0	0	0	0	0	1	8900	755	27	1		1	LOXL2	8	23174541	Silent	SNP	C	TCGA-30-1857-01A-02W-0639-09		23174541	123189481	37	20247											
POP1	10940	genome.wustl.edu	37	8	99142359	99142359	+	Missense_Mutation	SNP	A	A	G	rs370059328		TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr8:99142359A>G	ENST00000401707.2	+	5	721	c.640A>G	c.(640-642)Atg>Gtg	p.M214V	POP1_ENST00000349693.3_Missense_Mutation_p.M214V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	214					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCGGTTTCATATGGTCAAGAA	0.517																																																0			8						A	VAL/MET,VAL/MET,VAL/MET	0,4406		0,0,2203	78	76	77		640,640,640	5.8	1	8		77	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	21,21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	214/1025,214/1025,214/1025	99142359	1,13005	2203	4300	6503	99211535	SO:0001583	missense	10940			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.640A>G	8.37:g.99142359A>G	ENSP00000385787:p.Met214Val		99211535	A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054733	0.75960	0.0	1.16E-4	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.60299	0.2;0.2	5.81	5.81	0.92471	Ribonuclease P/MRP, subunit POP1 (1);	0.053946	0.64402	D	0.000002	T	0.78792	0.4339	M	0.87900	2.915	0.58432	D	0.999994	D	0.65815	0.995	D	0.76575	0.988	T	0.82043	-0.0653	9	.	.	.	-28.7216	14.4189	0.67171	1.0:0.0:0.0:0.0	.	214	Q99575	POP1_HUMAN	V	214	ENSP00000385787:M214V;ENSP00000339529:M214V	.	M	+	1	0	POP1	99211535	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.474000	0.81024	2.217000	0.71921	0.482000	0.46254	ATG		0.517	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		G	99142359	A	G	99142359	3	3	367	1	0	0	0	0	1	0	0	0	12251	449	16	4	654	4	POP1	8	99142359	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09	75967818	99142359	47221663	38	20248											
VPS13B	157680	genome.wustl.edu	37	8	100133434	100133434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr8:100133434C>T	ENST00000358544.2	+	8	1078	c.967C>T	c.(967-969)Caa>Taa	p.Q323*	CTD-2340D6.1_ENST00000523226.1_RNA|VPS13B_ENST00000441350.2_Nonsense_Mutation_p.Q323*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q323*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.Q323*|VPS13B_ENST00000395996.1_Nonsense_Mutation_p.Q323*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	323					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATAGATATGCAATATCCTGC	0.373																																					Colon(161;2205 2542 7338 31318)											0			8											67	64	65					8																	100133434		2203	4300	6503	100202610	SO:0001587	stop_gained	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.967C>T	8.37:g.100133434C>T	ENSP00000351346:p.Gln323*		100202610	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.515689|4.515689	0.85389|0.85389	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000524330|ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.151019	.|0.44483	.|D	.|0.000445	T|.	0.74801|.	0.3764|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71477|.	-0.4581|.	3|.	.|0.34782	.|T	.|0.22	.|.	19.5169|19.5169	0.95169|0.95169	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	31|323	.|.	.|ENSP00000347281:Q323X	A|Q	+|+	2|1	0|0	VPS13B|VPS13B	100202610|100202610	0.989000|0.989000	0.36119|0.36119	0.995000|0.995000	0.50966|0.50966	0.795000|0.795000	0.44927|0.44927	3.508000|3.508000	0.53378|0.53378	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100133434	C	T	100133434	4	4	367	1	0	0	0	0	0	1	0	0	17190	711	25	2	993	2	VPS13B	8	100133434	Nonsense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	991075	100133434	46230588	39	20249											
TG	7038	genome.wustl.edu	37	8	133883630	133883630	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr8:133883630A>T	ENST00000220616.4	+	4	352	c.312A>T	c.(310-312)ttA>ttT	p.L104F	TG_ENST00000377869.1_Missense_Mutation_p.L104F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	104	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGATCTTACTGAGTGGCT	0.512																																																0			8											190	166	174					8																	133883630		2203	4300	6503	133952812	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.312A>T	8.37:g.133883630A>T	ENSP00000220616:p.Leu104Phe		133952812	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.125653	0.56721	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.68479	-0.33;-0.33	5.58	0.762	0.18454	Thyroglobulin type-1 (3);	0.000000	0.49305	D	0.000160	T	0.74215	0.3687	L	0.60067	1.865	0.19945	N	0.999949	D	0.89917	1.0	D	0.97110	1.0	T	0.64935	-0.6290	10	0.87932	D	0	.	8.4592	0.32917	0.3777:0.0:0.6223:0.0	.	104	P01266	THYG_HUMAN	F	104	ENSP00000367100:L104F;ENSP00000220616:L104F	ENSP00000220616:L104F	L	+	3	2	TG	133952812	1.000000	0.71417	0.007000	0.13788	0.764000	0.43329	1.997000	0.40786	-0.133000	0.11537	-0.386000	0.06593	TTA		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133883630	A	T	133883630	3	4	367	1	0	0	0	0	1	0	0	0	15813	388	14	5	326	5	TG	8	133883630	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09	33750196	133883630	12480392	40	20250											
ZBTB5	9925	genome.wustl.edu	37	9	37442075	37442075	+	Silent	SNP	G	G	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr9:37442075G>C	ENST00000307750.4	-	2	662	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GGCTGGAATTGAGGGCTGAGC	0.607																																																0			9											52	53	53					9																	37442075		2203	4300	6503	37432075	SO:0001819	synonymous_variant	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.474C>G	9.37:g.37442075G>C			37432075		Silent	SNP	ENST00000307750.4	37	CCDS6610.1																																																																																				0.607	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		C	37442075	G	C	37442075	2	2	367	1	0	0	0	0	0	0	0	1	17551	1277	45	3		3	ZBTB5	9	37442075	Silent	SNP	G	TCGA-30-1857-01A-02W-0639-09		37442075	103771356	41	20251											
SCAI	286205	genome.wustl.edu	37	9	127734081	127734081	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr9:127734081T>C	ENST00000336505.6	-	16	1500	c.1442A>G	c.(1441-1443)aAt>aGt	p.N481S	SCAI_ENST00000373549.4_Missense_Mutation_p.N504S	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	481					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						CATTAGAGGATTGTTCAAAAA	0.368																																																0			9											103	92	95					9																	127734081		1840	4091	5931	126773902	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1442A>G	9.37:g.127734081T>C	ENSP00000336756:p.Asn481Ser		126773902	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	T	3.290	-0.145218	0.06627	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.39229	1.09;1.09	5.1	5.1	0.69264	.	0.138673	0.64402	D	0.000004	T	0.16981	0.0408	N	0.01874	-0.695	0.44309	D	0.997188	B;B	0.16802	0.019;0.015	B;B	0.19946	0.026;0.027	T	0.17501	-1.0367	10	0.02654	T	1	-18.4788	14.3915	0.66983	0.0:0.0:0.0:1.0	.	481;504	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	S	481;504	ENSP00000336756:N481S;ENSP00000362650:N504S	ENSP00000336756:N481S	N	-	2	0	SCAI	126773902	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.225000	0.58600	2.057000	0.61298	0.533000	0.62120	AAT		0.368	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		C	127734081	T	C	127734081	3	2	367	1	0	0	0	0	1	0	0	0	13872	1493	52	4	390	4	SCAI	9	127734081	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09	90292006	127734081	13479350	42	20252											
DHTKD1	55526	genome.wustl.edu	37	10	12162877	12162877	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr10:12162877C>A	ENST00000263035.4	+	17	2812	c.2750C>A	c.(2749-2751)aCc>aAc	p.T917N		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	917					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTCGCCAAGACCTTCGCTTGA	0.507																																																0			10											93	84	87					10																	12162877		2203	4300	6503	12202883	SO:0001583	missense	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2750C>A	10.37:g.12162877C>A	ENSP00000263035:p.Thr917Asn		12202883	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.262045	0.59431	.	.	ENSG00000181192	ENST00000263035	T	0.05081	3.5	5.61	5.61	0.85477	.	0.096368	0.64402	D	0.000001	T	0.15609	0.0376	M	0.79258	2.445	0.58432	D	0.999999	P	0.45011	0.848	B	0.43103	0.408	T	0.00664	-1.1620	10	0.87932	D	0	-14.2665	19.2248	0.93814	0.0:1.0:0.0:0.0	.	917	Q96HY7	DHTK1_HUMAN	N	917	ENSP00000263035:T917N	ENSP00000263035:T917N	T	+	2	0	DHTKD1	12202883	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	6.713000	0.74686	2.614000	0.88457	0.655000	0.94253	ACC		0.507	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		A	12162877	C	A	12162877	3	1	367	1	0	0	0	0	1	0	0	0	4500	507	18	3	2816	3	DHTKD1	10	12162877	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09		12162877	123371870	43	20253											
PCDH15	65217	genome.wustl.edu	37	10	55568458	55568458	+	Silent	SNP	T	T	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr10:55568458T>A	ENST00000395445.1	-	36	5746	c.5352A>T	c.(5350-5352)gcA>gcT	p.A1784A	PCDH15_ENST00000395446.1_Silent_p.A980A|PCDH15_ENST00000395442.1_Silent_p.A649A|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Silent_p.A718A	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTTCAAAGTGCTGTGTTGT	0.483										HNSCC(58;0.16)																																						0			10											54	47	49					10																	55568458		1568	3582	5150	55238464	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5352A>T	10.37:g.55568458T>A			55238464	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395445.1	37																																																																																					0.483	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		A	55568458	T	A	55568458	2	1	367	1	0	0	0	0	0	0	0	1	11511	1683	59	5		5	PCDH15	10	55568458	Silent	SNP	T	TCGA-30-1857-01A-02W-0639-09	43405581	55568458	79966289	44	20254											
DNAJC12	56521	genome.wustl.edu	37	10	69583135	69583135	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr10:69583135C>G	ENST00000225171.2	-	2	246	c.94G>C	c.(94-96)Gca>Cca	p.A32P	RN7SL394P_ENST00000480997.2_RNA|DNAJC12_ENST00000483798.2_Missense_Mutation_p.A32P|DNAJC12_ENST00000339758.7_Missense_Mutation_p.A32P	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	32	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.									breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTAAATTCTGCCAGGATTTGT	0.413																																																0			10											104	107	106					10																	69583135		2203	4300	6503	69253141	SO:0001583	missense	56521			AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"Heat shock proteins / DNAJ (HSP40)"	28908	protein-coding gene	gene with protein product	"J domain protein 1"	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.94G>C	10.37:g.69583135C>G	ENSP00000225171:p.Ala32Pro		69253141	Q5JVQ1|Q9UKB2	Missense_Mutation	SNP	ENST00000225171.2	37	CCDS7271.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958368	0.74016	.	.	ENSG00000108176	ENST00000225171;ENST00000339758	T;T	0.31247	1.5;1.5	5.25	4.35	0.52113	Heat shock protein DnaJ, N-terminal (5);	0.251575	0.40818	N	0.001017	T	0.58466	0.2124	M	0.91196	3.185	0.58432	D	0.999997	P;D	0.58620	0.884;0.983	P;D	0.65233	0.749;0.933	T	0.64368	-0.6424	10	0.56958	D	0.05	-9.8744	9.6831	0.40082	0.0:0.9046:0.0:0.0954	.	32;32	Q9UKB3-2;Q9UKB3	.;DJC12_HUMAN	P	32	ENSP00000225171:A32P;ENSP00000343575:A32P	ENSP00000225171:A32P	A	-	1	0	DNAJC12	69253141	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.867000	0.27968	1.205000	0.43262	0.591000	0.81541	GCA		0.413	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		G	69583135	C	G	69583135	3	3	367	1	0	0	0	0	1	0	0	0	4631	739	26	3	545	3	DNAJC12	10	69583135	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	14014677	69583135	65951612	45	20255											
SIRT1	23411	genome.wustl.edu	37	10	69647221	69647221	+	Silent	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr10:69647221C>T	ENST00000212015.6	+	2	530	c.477C>T	c.(475-477)tcC>tcT	p.S159S	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	159	Interaction with CCAR2.|Interaction with HIST1H1E.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GTTTTCATTCCTGTGAAAGTG	0.423																																																0			10											155	145	149					10																	69647221		2203	4300	6503	69317227	SO:0001819	synonymous_variant	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.477C>T	10.37:g.69647221C>T			69317227	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Silent	SNP	ENST00000212015.6	37	CCDS7273.1																																																																																				0.423	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			T	69647221	C	T	69647221	2	4	367	1	0	0	0	0	0	0	0	1	14340	668	24	2		2	SIRT1	10	69647221	Silent	SNP	C	TCGA-30-1857-01A-02W-0639-09	64086	69647221	65887526	46	20256											
WAPAL	23063	genome.wustl.edu	37	10	88277647	88277647	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr10:88277647C>G	ENST00000298767.5	-	2	652	c.180G>C	c.(178-180)aaG>aaC	p.K60N		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	60	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTTTAGGTTTCTTCGGAATTT	0.403																																																0			10											79	78	78					10																	88277647		2203	4300	6503	88267627	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.180G>C	10.37:g.88277647C>G	ENSP00000298767:p.Lys60Asn		88267627	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218001	0.39201	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.39406	1.08	5.56	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;1.0	D;D;D;D	0.91635	0.999;0.991;0.991;0.997	T	0.60520	-0.7247	10	0.72032	D	0.01	.	10.7602	0.46259	0.0:0.8404:0.0:0.1596	.	145;60;60;103	Q7Z5K2-3;B2RTX8;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	N	145;60;145	ENSP00000298767:K60N	ENSP00000298767:K60N	K	-	3	2	WAPAL	88267627	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.075000	0.30716	1.266000	0.44231	-0.355000	0.07637	AAG		0.403	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		G	88277647	C	G	88277647	3	3	367	1	0	0	0	0	1	0	0	0	17248	912	32	3	3464	3	WAPAL	10	88277647	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	18630426	88277647	47257100	47	20257											
SNX15	29907	genome.wustl.edu	37	11	64795066	64795066	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr11:64795066G>T	ENST00000377244.3	+	1	187	c.57G>T	c.(55-57)agG>agT	p.R19S	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Missense_Mutation_p.R19S	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	19	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CGGACCCCAGGACTCACCCCA	0.622											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(56;269 1304 3324 8253)											0			11											63	60	61					11																	64795066		2201	4297	6498	64551642	SO:0001583	missense	29907			AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"Sorting nexins"	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.57G>T	11.37:g.64795066G>T	ENSP00000366452:p.Arg19Ser	1079	64551642	E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587147	0.66105	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.33	3.47	0.39725	Phox homologous domain (5);	0.125167	0.56097	D	0.000036	T	0.46718	0.1407	L	0.34521	1.04	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.979;1.0	D;P;D	0.87578	0.998;0.825;0.998	T	0.38757	-0.9646	10	0.42905	T	0.14	3.189	5.533	0.16995	0.1707:0.1645:0.6648:0.0	.	19;19;19	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	S	19	ENSP00000366452:R19S;ENSP00000437277:R19S;ENSP00000431690:R19S;ENSP00000316410:R19S	ENSP00000316410:R19S	R	+	3	2	SNX15	64551642	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.595000	0.24029	0.826000	0.34661	0.643000	0.83706	AGG		0.622	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			T	64795066	G	T	64795066	3	4	367	1	0	0	0	0	1	0	0	0	14889	1165	41	3	59	3	SNX15	11	64795066	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09		64795066	70211450	48	20258											
KDM4D	55693	genome.wustl.edu	37	11	94731666	94731666	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr11:94731666T>A	ENST00000335080.5	+	3	1962	c.1130T>A	c.(1129-1131)cTc>cAc	p.L377H	KDM4D_ENST00000536741.1_Missense_Mutation_p.L377H	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	377					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGAGACAACTCCCTTCCCAC	0.632																																																0			11											56	46	49					11																	94731666		2201	4298	6499	94371314	SO:0001583	missense	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1130T>A	11.37:g.94731666T>A	ENSP00000334181:p.Leu377His		94371314	B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	T	8.460	0.855095	0.17106	.	.	ENSG00000186280	ENST00000335080	T	0.31510	1.49	3.64	-5.2	0.02823	.	1.246770	0.06173	U	0.678134	T	0.14700	0.0355	L	0.29908	0.895	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.28964	-1.0027	10	0.13108	T	0.6	-2.9886	0.3282	0.00314	0.2809:0.2676:0.1436:0.3079	.	377	Q6B0I6	KDM4D_HUMAN	H	377	ENSP00000334181:L377H	ENSP00000334181:L377H	L	+	2	0	KDM4D	94371314	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.411000	0.07142	-1.146000	0.02854	0.460000	0.39030	CTC		0.632	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		A	94731666	T	A	94731666	3	1	367	1	0	0	0	0	1	0	0	0	8131	1551	54	5	1132	5	KDM4D	11	94731666	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09	29936600	94731666	40274850	49	20259											
FOXM1	2305	genome.wustl.edu	37	12	2981334	2981334	+	Silent	SNP	T	T	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr12:2981334T>G	ENST00000359843.3	-	3	650	c.582A>C	c.(580-582)ggA>ggC	p.G194G	FOXM1_ENST00000342628.2_Silent_p.G194G|FOXM1_ENST00000361953.3_Silent_p.G194G|FOXM1_ENST00000537018.1_5'UTR	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	194					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGAGCCCAGTCCATCAGAAC	0.488																																																0			12											217	192	200					12																	2981334		2203	4300	6503	2851595	SO:0001819	synonymous_variant	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.582A>C	12.37:g.2981334T>G			2851595	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1																																																																																				0.488	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		G	2981334	T	G	2981334	2	3	367	1	0	0	0	0	0	0	0	1	6018	1654	58	5		5	FOXM1	12	2981334	Silent	SNP	T	TCGA-30-1857-01A-02W-0639-09		2981334	130870561	50	20260											
ATF7	11016	genome.wustl.edu	37	12	53925559	53925559	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr12:53925559T>G	ENST00000548446.2	-	9	1041	c.929A>C	c.(928-930)cAc>cCc	p.H310P	ATF7_ENST00000456903.4_Missense_Mutation_p.H299P|ATF7_ENST00000420353.2_Missense_Mutation_p.H299P|ATF7_ENST00000328463.7_Missense_Mutation_p.H310P|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.H299P|ATF7_ENST00000415113.1_Missense_Mutation_p.H278P			P17544	ATF7_HUMAN	activating transcription factor 7	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GGCATCAGGGTGCTGGATGAG	0.507																																																0			12											56	63	61					12																	53925559		2017	4179	6196	52211826	SO:0001583	missense	11016			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.929A>C	12.37:g.53925559T>G	ENSP00000449938:p.His310Pro		52211826	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37		.	.	.	.	.	.	.	.	.	.	T	14.69	2.611541	0.46631	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.50277	0.75;0.75;0.8;0.75;0.75	5.38	5.38	0.77491	.	0.049773	0.85682	D	0.000000	T	0.35422	0.0931	N	0.22421	0.69	0.58432	D	0.999991	B;B;B	0.33073	0.0;0.396;0.0	B;B;B	0.31614	0.0;0.133;0.0	T	0.25813	-1.0121	10	0.49607	T	0.09	-23.2099	14.684	0.69037	0.0:0.0:0.0:1.0	.	278;299;310	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	P	310;310;278;299;299	ENSP00000449938:H310P;ENSP00000329212:H310P;ENSP00000404880:H278P;ENSP00000399465:H299P;ENSP00000387406:H299P	ENSP00000329212:H310P	H	-	2	0	ATF7	52211826	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.839000	0.69395	2.189000	0.69895	0.402000	0.26972	CAC		0.507	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		G	53925559	T	G	53925559	3	3	367	1	0	0	0	0	1	0	0	0	1086	1696	59	5	571	5	ATF7	12	53925559	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09	50944225	53925559	79926336	51	20261											
LRP1	4035	genome.wustl.edu	37	12	57578928	57578928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr12:57578928C>T	ENST00000243077.3	+	40	6869	c.6403C>T	c.(6403-6405)Cga>Tga	p.R2135*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2135					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGTGCCCCTGCGAACCGGCAT	0.612																																																0			12											76	75	75					12																	57578928		2203	4300	6503	55865195	SO:0001587	stop_gained	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6403C>T	12.37:g.57578928C>T	ENSP00000243077:p.Arg2135*		55865195	Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	48	14.531223	0.99799	.	.	ENSG00000123384	ENST00000243077	.	.	.	5.31	0.989	0.19802	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	14.4716	0.67519	0.6827:0.3173:0.0:0.0	.	.	.	.	X	2135	.	ENSP00000243077:R2135X	R	+	1	2	LRP1	55865195	0.999000	0.42202	0.813000	0.32504	0.181000	0.23173	0.685000	0.25378	-0.101000	0.12219	0.491000	0.48974	CGA		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57578928	C	T	57578928	4	4	367	1	0	0	0	0	0	1	0	0	8951	760	27	1	6561	1	LRP1	12	57578928	Nonsense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	3653369	57578928	76272967	52	20262											
ALX1	8092	genome.wustl.edu	37	12	85677459	85677459	+	Silent	SNP	G	G	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr12:85677459G>A	ENST00000316824.3	+	2	491	c.336G>A	c.(334-336)gaG>gaA	p.E112E		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	112					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GGATGCAAGAGAAGGGAGAGC	0.488																																																0			12											120	113	115					12																	85677459		2203	4300	6503	84201590	SO:0001819	synonymous_variant	8092			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.336G>A	12.37:g.85677459G>A			84201590	Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	CCDS9028.1																																																																																				0.488	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		A	85677459	G	A	85677459	2	1	367	1	0	0	0	0	0	0	0	1	556	933	33	2		2	ALX1	12	85677459	Silent	SNP	G	TCGA-30-1857-01A-02W-0639-09	28098531	85677459	48174436	53	20263											
RFC5	5985	genome.wustl.edu	37	12	118469037	118469037	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr12:118469037T>A	ENST00000454402.2	+	11	1095	c.977T>A	c.(976-978)aTt>aAt	p.I326N	RFC5_ENST00000229043.3_Missense_Mutation_p.I241N|RFC5_ENST00000392542.2_Missense_Mutation_p.I305N|RFC5_ENST00000543153.1_3'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	326					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTCCCTCATTGCTGCATTT	0.493																																																0			12											190	162	172					12																	118469037		2203	4300	6503	116953420	SO:0001583	missense	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.977T>A	12.37:g.118469037T>A	ENSP00000408295:p.Ile326Asn		116953420	A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479175	0.84747	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.50813	0.73;0.73;0.73	4.68	4.68	0.58851	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.059512	0.64402	D	0.000002	T	0.71117	0.3302	M	0.86651	2.83	0.58432	D	0.99999	D;D;D	0.71674	0.988;0.998;0.998	D;D;D	0.75020	0.966;0.985;0.975	T	0.77405	-0.2600	10	0.87932	D	0	-14.8599	13.5621	0.61795	0.0:0.0:0.0:1.0	.	305;337;326	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	N	241;326;305	ENSP00000229043:I241N;ENSP00000408295:I326N;ENSP00000376325:I305N	ENSP00000229043:I241N	I	+	2	0	RFC5	116953420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.858000	0.86971	2.085000	0.62840	0.528000	0.53228	ATT		0.493	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		A	118469037	T	A	118469037	3	1	367	1	0	0	0	0	1	0	0	0	13251	1493	52	5	1025	5	RFC5	12	118469037	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09	32791578	118469037	15382858	54	20264											
DCT	1638	genome.wustl.edu	37	13	95121261	95121261	+	Missense_Mutation	SNP	C	C	A	rs144460082		TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr13:95121261C>A	ENST00000377028.5	-	2	747	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C	DCT_ENST00000446125.1_Missense_Mutation_p.G112C|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	112					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CCGGTCCAGCCAAACTTGCAG	0.483													C|||	1	0.000199681	0	0	5008	,	,		17967	0		0.001	False		,,,				2504	0															0			13						C	CYS/GLY,CYS/GLY	0,4406		0,0,2203	119	128	125		334,334	5.7	1	13	dbSNP_134	125	5,8595	5.0+/-18.6	0,5,4295	yes	missense,missense	DCT	NM_001129889.1,NM_001922.3	159,159	0,5,6498	AA,AC,CC		0.0581,0.0,0.0384	probably-damaging,probably-damaging	112/553,112/520	95121261	5,13001	2203	4300	6503	93919262	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.334G>T	13.37:g.95121261C>A	ENSP00000366227:p.Gly112Cys		93919262	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.2	4.895898	0.91962	0.0	5.81E-4	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.92805	-3.11;-3.11	5.65	5.65	0.86999	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.984	D	0.98276	1.0506	9	.	.	.	-25.1302	19.7272	0.96168	0.0:1.0:0.0:0.0	.	112;112	Q09GT4;P40126	.;TYRP2_HUMAN	C	112	ENSP00000366227:G112C;ENSP00000392762:G112C	.	G	-	1	0	DCT	93919262	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.459000	0.80802	2.646000	0.89796	0.655000	0.94253	GGC		0.483	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			A	95121261	C	A	95121261	3	1	367	1	0	0	0	0	1	0	0	0	4304	594	21	3	1360	3	DCT	13	95121261	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09		95121261	20048617	55	20265											
LRP10	26020	genome.wustl.edu	37	14	23344660	23344660	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr14:23344660G>T	ENST00000359591.4	+	5	1194	c.503G>T	c.(502-504)gGc>gTc	p.G168V	LRP10_ENST00000546834.1_Missense_Mutation_p.G168V	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	168	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTGGCGATGGCTCTGATGAA	0.587																																																0			14											142	113	123					14																	23344660		2203	4300	6503	22414500	SO:0001583	missense	26020			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.503G>T	14.37:g.23344660G>T	ENSP00000352601:p.Gly168Val		22414500	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.54|13.54	2.267692|2.267692	0.40095|0.40095	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	D;D|.	0.96554|.	-4.05;-4.05|.	5.97|5.97	4.9|4.9	0.64082|0.64082	.|.	0.273316|.	0.40818|.	N|.	0.001011|.	T|T	0.79441|0.79441	0.4446|0.4446	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	B|.	0.30763|.	0.294|.	B|.	0.33890|.	0.172|.	T|T	0.82034|0.82034	-0.0657|-0.0657	10|5	0.66056|.	D|.	0.02|.	-23.7309|-23.7309	13.328|13.328	0.60471|0.60471	0.0883:0.0:0.9117:0.0|0.0883:0.0:0.9117:0.0	.|.	168|.	Q7Z4F1|.	LRP10_HUMAN|.	V|C	168|69	ENSP00000352601:G168V;ENSP00000447559:G168V|.	ENSP00000352601:G168V|.	G|W	+|+	2|3	0|0	LRP10|LRP10	22414500|22414500	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	1.883000|1.883000	0.39658|0.39658	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.587	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			T	23344660	G	T	23344660	3	4	367	1	0	0	0	0	1	0	0	0	8952	1203	42	3	521	3	LRP10	14	23344660	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09		23344660	84004880	56	20266											
LRRC16B	90668	genome.wustl.edu	37	14	24526195	24526195	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr14:24526195A>T	ENST00000342740.5	+	13	1178	c.1024A>T	c.(1024-1026)Agc>Tgc	p.S342C	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	342						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCTGGACCTGAGCAAGAATCC	0.612																																																0			14											40	42	41					14																	24526195		2203	4300	6503	23596035	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1024A>T	14.37:g.24526195A>T	ENSP00000340467:p.Ser342Cys		23596035	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708022	0.48412	.	.	ENSG00000186648	ENST00000342740	T	0.61158	0.13	5.25	5.25	0.73442	.	0.050378	0.85682	D	0.000000	T	0.71409	0.3336	H	0.94264	3.515	0.80722	D	1	D	0.55172	0.97	P	0.46543	0.52	T	0.80299	-0.1441	10	0.72032	D	0.01	-7.6032	11.4769	0.50304	1.0:0.0:0.0:0.0	.	342	Q8ND23	LR16B_HUMAN	C	342	ENSP00000340467:S342C	ENSP00000340467:S342C	S	+	1	0	LRRC16B	23596035	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.399000	0.52586	2.215000	0.71742	0.460000	0.39030	AGC		0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		T	24526195	A	T	24526195	3	4	367	1	0	0	0	0	1	0	0	0	8972	304	11	5	1074	5	LRRC16B	14	24526195	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09	1181535	24526195	82823345	57	20267											
ZFYVE26	23503	genome.wustl.edu	37	14	68252891	68252891	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr14:68252891G>A	ENST00000347230.4	-	17	3217	c.3079C>T	c.(3079-3081)Ctt>Ttt	p.L1027F	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L1027F	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1027					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATTTGCTGAAGAACAACTGGA	0.403																																																0			14											103	100	101					14																	68252891		2203	4300	6503	67322644	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3079C>T	14.37:g.68252891G>A	ENSP00000251119:p.Leu1027Phe		67322644	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966367	0.74131	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.50277	0.95;0.75	5.24	4.31	0.51392	.	0.073057	0.53938	D	0.000043	T	0.63768	0.2539	M	0.66939	2.045	0.47374	D	0.999404	D;D	0.63046	0.992;0.986	P;P	0.62298	0.9;0.797	T	0.68284	-0.5449	10	0.72032	D	0.01	-9.7448	15.1573	0.72752	0.0:0.0:0.8582:0.1418	.	1027;1027	G3V2D8;Q68DK2	.;ZFY26_HUMAN	F	1027;1006;1027	ENSP00000251119:L1027F;ENSP00000450603:L1027F	ENSP00000251119:L1027F	L	-	1	0	ZFYVE26	67322644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.003000	0.57061	2.424000	0.82194	0.655000	0.94253	CTT		0.403	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68252891	G	A	68252891	3	1	367	1	0	0	0	0	1	0	0	0	17668	942	33	2	4644	2	ZFYVE26	14	68252891	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	43726696	68252891	39096649	58	20268											
ANGEL1	23357	genome.wustl.edu	37	14	77256975	77256975	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr14:77256975A>G	ENST00000251089.2	-	9	1943	c.1831T>C	c.(1831-1833)Tgt>Cgt	p.C611R	ANGEL1_ENST00000557179.1_Missense_Mutation_p.C176R	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	611										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCATTCTCACAGGACTCAGCT	0.527																																																0			14											128	109	115					14																	77256975		2203	4300	6503	76326728	SO:0001583	missense	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1831T>C	14.37:g.77256975A>G	ENSP00000251089:p.Cys611Arg		76326728	B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	A	1.884	-0.457099	0.04540	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.79749	1.63;-1.3	5.76	5.76	0.90799	Endonuclease/exonuclease/phosphatase (2);	1.292320	0.04541	N	0.388193	T	0.61714	0.2369	N	0.03608	-0.345	0.25093	N	0.990847	B	0.02656	0.0	B	0.06405	0.002	T	0.54282	-0.8317	10	0.10377	T	0.69	-0.1375	8.2724	0.31853	0.7348:0.1352:0.0:0.1299	.	611	Q9UNK9	ANGE1_HUMAN	R	611;176	ENSP00000251089:C611R;ENSP00000451534:C176R	ENSP00000251089:C611R	C	-	1	0	ANGEL1	76326728	0.137000	0.22531	0.827000	0.32855	0.305000	0.27757	1.550000	0.36223	2.223000	0.72356	0.454000	0.30748	TGT		0.527	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		G	77256975	A	G	77256975	3	3	367	1	0	0	0	0	1	0	0	0	608	188	7	4	189	4	ANGEL1	14	77256975	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09	9004084	77256975	30092565	59	20269											
BDKRB1	623	genome.wustl.edu	37	14	96730551	96730551	+	Missense_Mutation	SNP	A	A	G	rs147649798		TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr14:96730551A>G	ENST00000216629.6	+	3	1138	c.532A>G	c.(532-534)Atc>Gtc	p.I178V	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.I178V	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	178					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GCTGCGATCCATCCAAGCCGT	0.607																																																0			14						A	VAL/ILE	0,4406		0,0,2203	68	65	66		532	-2.9	0	14	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	BDKRB1	NM_000710.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	178/354	96730551	1,13005	2203	4300	6503	95800304	SO:0001583	missense	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.532A>G	14.37:g.96730551A>G	ENSP00000216629:p.Ile178Val		95800304	A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.216554	0.00286	0.0	1.16E-4	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.71103	-0.54;-0.54	4.95	-2.92	0.05615	GPCR, rhodopsin-like superfamily (1);	0.359100	0.25060	N	0.033458	T	0.29355	0.0731	N	0.01352	-0.895	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.39057	-0.9632	10	0.02654	T	1	-10.9442	7.1739	0.25734	0.2624:0.4662:0.2714:0.0	.	178;178	G3V4Y2;P46663	.;BKRB1_HUMAN	V	178	ENSP00000216629:I178V;ENSP00000452064:I178V	ENSP00000216629:I178V	I	+	1	0	BDKRB1	95800304	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	-0.143000	0.10296	-1.105000	0.03011	-1.498000	0.00962	ATC		0.607	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			G	96730551	A	G	96730551	3	3	367	1	0	0	0	0	1	0	0	0	1392	217	8	4	534	4	BDKRB1	14	96730551	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09	19473576	96730551	10618989	60	20270											
UNC13C	440279	genome.wustl.edu	37	15	54915995	54915995	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr15:54915995A>T	ENST00000260323.11	+	31	6202	c.6202A>T	c.(6202-6204)Att>Ttt	p.I2068F	UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000537900.1_Missense_Mutation_p.I2066F|UNC13C_ENST00000545554.1_Missense_Mutation_p.I2068F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2068	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTTTAGTGATTGCTATTAA	0.353																																																0			15											59	55	57					15																	54915995		1828	4077	5905	52703287	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6202A>T	15.37:g.54915995A>T	ENSP00000260323:p.Ile2068Phe		52703287	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888316	0.33348	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.71461	-0.57;-0.57;-0.57	5.53	4.41	0.53225	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.368792	0.28057	N	0.016772	T	0.61689	0.2367	L	0.49350	1.555	0.41510	D	0.98833	B	0.27316	0.175	B	0.30029	0.11	T	0.64905	-0.6297	10	0.72032	D	0.01	.	5.056	0.14533	0.7573:0.0:0.2427:0.0	.	2068	Q8NB66	UN13C_HUMAN	F	2068;2068;2066	ENSP00000260323:I2068F;ENSP00000438156:I2068F;ENSP00000442569:I2066F	ENSP00000260323:I2068F	I	+	1	0	UNC13C	52703287	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	2.428000	0.44749	2.096000	0.63516	0.460000	0.39030	ATT		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		T	54915995	A	T	54915995	3	4	367	1	0	0	0	0	1	0	0	0	16986	333	12	5	6320	5	UNC13C	15	54915995	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09		54915995	47615397	61	20271											
ARNT2	9915	genome.wustl.edu	37	15	80767383	80767383	+	Silent	SNP	T	T	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr15:80767383T>C	ENST00000303329.4	+	5	606	c.441T>C	c.(439-441)gaT>gaC	p.D147D	ARNT2_ENST00000533983.1_Silent_p.D136D|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Silent_p.D136D	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	147	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AAGCAGCTGATGGATTTCTGT	0.463																																																0			15											273	273	273					15																	80767383		2203	4300	6503	78554438	SO:0001819	synonymous_variant	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.441T>C	15.37:g.80767383T>C			78554438	B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	CCDS32307.1																																																																																				0.463	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			C	80767383	T	C	80767383	2	2	367	1	0	0	0	0	0	0	0	1	966	1461	51	4		4	ARNT2	15	80767383	Silent	SNP	T	TCGA-30-1857-01A-02W-0639-09	25851388	80767383	21764009	62	20272											
BNC1	646	genome.wustl.edu	37	15	83926639	83926639	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr15:83926639G>T	ENST00000345382.2	-	5	2625	c.2540C>A	c.(2539-2541)tCt>tAt	p.S847Y	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S840Y	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	847					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAAGGGGCCAGAGTTGTAGCT	0.542																																																0			15											120	98	105					15																	83926639		2203	4300	6503	81717643	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2540C>A	15.37:g.83926639G>T	ENSP00000307041:p.Ser847Tyr		81717643	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.346373	0.01266	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44881	0.91	5.94	4.0	0.46444	.	0.743058	0.13793	N	0.362388	T	0.21145	0.0509	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.05354	-1.0890	10	0.33940	T	0.23	-10.7682	10.2156	0.43166	0.0:0.117:0.6679:0.2151	.	840;847	F5GY04;Q01954	.;BNC1_HUMAN	Y	847;840	ENSP00000307041:S847Y	ENSP00000307041:S847Y	S	-	2	0	BNC1	81717643	0.119000	0.22226	0.032000	0.17829	0.072000	0.16883	1.392000	0.34486	2.816000	0.96949	0.563000	0.77884	TCT		0.542	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		T	83926639	G	T	83926639	3	4	367	1	0	0	0	0	1	0	0	0	1474	942	33	3	448	3	BNC1	15	83926639	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	3159256	83926639	18604753	63	20273											
PEX11A	8800	genome.wustl.edu	37	15	90229663	90229663	+	Splice_Site	SNP	T	T	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr15:90229663T>A	ENST00000300056.3	-	2	320	c.171A>T	c.(169-171)aaA>aaT	p.K57N	PEX11A_ENST00000561224.1_Splice_Site_p.K57N|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Splice_Site_p.K57N	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	57					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GGTACTTACATTTACGACCAG	0.433																																																0			15											146	128	134					15																	90229663		2200	4299	6499	88030667	SO:0001630	splice_region_variant	8800			AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"peroxisomal biogenesis factor 11A"			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.172+1A>T	15.37:g.90229663T>A			88030667	B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283365	0.80803	.	.	ENSG00000166821	ENST00000300056	T	0.61510	0.1	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81861	-0.0738	10	0.62326	D	0.03	-8.5082	15.3915	0.74747	0.0:0.0:0.0:1.0	.	57	O75192	PX11A_HUMAN	N	57	ENSP00000300056:K57N	ENSP00000300056:K57N	K	-	3	2	PEX11A	88030667	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.268000	0.43338	2.229000	0.72834	0.528000	0.53228	AAA		0.433	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847	Missense_Mutation	A	90229663	T	A	90229663	5	1	367	1	0	0	0	0	0	0	1	0	11737	1507	52	5	580	5	PEX11A	15	90229663	Splice_Site	SNP	T	TCGA-30-1857-01A-02W-0639-09	6303024	90229663	12301729	64	20274											
CLEC18B	497190	genome.wustl.edu	37	16	74452176	74452176	+	Silent	SNP	G	G	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr16:74452176G>A	ENST00000339953.5	-	3	358	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	79	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGCCAGTTGGGCCAGGCTGT	0.637																																																0			16											8	9	9					16																	74452176		1864	3953	5817	73009677	SO:0001819	synonymous_variant	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.237C>T	16.37:g.74452176G>A			73009677	B4DF90	Silent	SNP	ENST00000339953.5	37	CCDS32484.1																																																																																				0.637	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		A	74452176	G	A	74452176	2	1	367	1	0	0	0	0	0	0	0	1	3503	1219	43	2		2	CLEC18B	16	74452176	Silent	SNP	G	TCGA-30-1857-01A-02W-0639-09		74452176	15902577	65	20275											
ZNF594	84622	genome.wustl.edu	37	17	5085814	5085814	+	Missense_Mutation	SNP	T	T	C	rs201302960		TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr17:5085814T>C	ENST00000399604.4	-	1	1878	c.1738A>G	c.(1738-1740)Agc>Ggc	p.S580G	ZNF594_ENST00000575779.1_Missense_Mutation_p.S580G			Q96JF6	ZN594_HUMAN	zinc finger protein 594	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGGTCTGAGCTGCCCTGGAAA	0.458																																																0			17											144	138	140					17																	5085814		2007	4207	6214	5026538	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1738A>G	17.37:g.5085814T>C	ENSP00000382513:p.Ser580Gly		5026538	Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	t	2.972	-0.212262	0.06140	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.07688	3.17	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	L	0.51422	1.61	0.09310	N	1	P	0.37731	0.607	B	0.43445	0.42	T	0.26573	-1.0099	9	0.49607	T	0.09	.	3.8407	0.08912	0.0:0.0:0.3924:0.6076	.	580	Q96JF6	ZN594_HUMAN	G	580;175	ENSP00000382513:S580G	ENSP00000373874:S175G	S	-	1	0	ZNF594	5026538	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	0.503000	0.22610	0.418000	0.25898	0.248000	0.18094	AGC		0.458	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		C	5085814	T	C	5085814	3	2	367	1	0	0	0	0	1	0	0	0	18024	1580	55	4	689	4	ZNF594	17	5085814	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09		5085814	76109396	66	20276											
TP53	7157	genome.wustl.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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"	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM942135	TP53	M	rs148924904						53	54	53					17																	7578442		2203	4300	6503	7519167	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys		7519167	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	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578442	T	C	7578442	3	2	367	1	0	0	0	0	1	0	0	0	16381	1638	57	4	810	4	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09	2492628	7578442	73616768	67	20277											
KIAA0100	9703	genome.wustl.edu	37	17	26964958	26964958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr17:26964958G>T	ENST00000528896.2	-	14	1741	c.1667C>A	c.(1666-1668)tCa>tAa	p.S556*	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.S413*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.S413*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	556						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGAGACAGCTGACTTCCCAGA	0.473																																																0			17											98	85	89					17																	26964958		2203	4300	6503	23989085	SO:0001587	stop_gained	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1667C>A	17.37:g.26964958G>T	ENSP00000436773:p.Ser556*		23989085	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	39	7.835645	0.98516	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.95	4.98	0.66077	.	1.025690	0.07669	N	0.935128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0246	0.71659	0.0681:0.0:0.9319:0.0	.	.	.	.	X	556;556;556;413	.	ENSP00000005905:S556X	S	-	2	0	KIAA0100	23989085	0.992000	0.36948	0.867000	0.34043	0.948000	0.59901	3.427000	0.52785	1.517000	0.48917	0.563000	0.77884	TCA		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		T	26964958	G	T	26964958	4	4	367	1	0	0	0	0	0	1	0	0	8154	1294	45	3	5144	3	KIAA0100	17	26964958	Nonsense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	19386516	26964958	54230252	68	20278											
BRCA1	672	genome.wustl.edu	37	17	41245150	41245150	+	Nonsense_Mutation	SNP	T	T	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr17:41245150T>A	ENST00000357654.3	-	10	2516	c.2398A>T	c.(2398-2400)Aaa>Taa	p.K800*	BRCA1_ENST00000354071.3_Nonsense_Mutation_p.K800*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.K753*|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.K504*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.K800*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.K800*|BRCA1_ENST00000491747.2_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	800					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTCACACATTTATTTGGTTCT	0.393			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17											268	260	263					17																	41245150		2203	4300	6503	38498676	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2398A>T	17.37:g.41245150T>A	ENSP00000350283:p.Lys800*		38498676	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779737	0.70107	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	.	.	.	5.36	0.656	0.17844	.	1.180480	0.06175	N	0.678377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	8.4604	0.32925	0.0:0.2487:0.3502:0.4011	.	.	.	.	X	800;800;800;800;504;800;753	.	ENSP00000310938:K504X	K	-	1	0	BRCA1	38498676	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	0.229000	0.17833	0.315000	0.23110	0.459000	0.35465	AAA		0.393	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41245150	T	A	41245150	4	1	367	1	0	0	0	0	0	1	0	0	1498	1763	61	5	3319	5	BRCA1	17	41245150	Nonsense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09	14280192	41245150	39950060	69	20279											
LUC7L3	51747	genome.wustl.edu	37	17	48822088	48822088	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr17:48822088G>C	ENST00000505658.1	+	7	796	c.607G>C	c.(607-609)Gat>Cat	p.D203H	LUC7L3_ENST00000240304.1_Missense_Mutation_p.D203H|LUC7L3_ENST00000544170.1_Missense_Mutation_p.D127H|LUC7L3_ENST00000393227.2_Missense_Mutation_p.D203H			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	203					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AATAGTAGGAGATGCCCAGTC	0.343																																																0			17											98	100	99					17																	48822088		2203	4300	6503	46177087	SO:0001583	missense	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.607G>C	17.37:g.48822088G>C	ENSP00000425092:p.Asp203His		46177087	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501436	0.85176	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.59	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;P;D	0.97110	1.0;0.889;0.934	T	0.74951	-0.3489	10	0.87932	D	0	-16.093	14.583	0.68305	0.0701:0.0:0.9299:0.0	.	127;203;203	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	H	203;203;203;203;127	ENSP00000425092:D203H;ENSP00000376919:D203H;ENSP00000240304:D203H;ENSP00000444253:D127H	ENSP00000240304:D203H	D	+	1	0	LUC7L3	46177087	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.765000	0.98953	1.380000	0.46344	0.563000	0.77884	GAT		0.343	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		C	48822088	G	C	48822088	3	2	367	1	0	0	0	0	1	0	0	0	9084	942	33	3	633	3	LUC7L3	17	48822088	Missense_Mutation	SNP	G	TCGA-30-1857-01A-02W-0639-09	7576938	48822088	32373122	70	20280											
OR4D1	26689	genome.wustl.edu	37	17	56233438	56233438	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr17:56233438C>G	ENST00000268912.5	+	1	945	c.924C>G	c.(922-924)tgC>tgG	p.C308W		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	308					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TAGTAATTTGCAGGGAGTAAA	0.393																																																0			17											22	23	23					17																	56233438		2100	4186	6286	53588437	SO:0001583	missense	26689			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.924C>G	17.37:g.56233438C>G	ENSP00000365451:p.Cys308Trp		53588437	B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.582762	0.28268	.	.	ENSG00000141194	ENST00000268912	T	0.37235	1.21	5.11	1.73	0.24493	.	0.634014	0.15681	N	0.249935	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.15435	-1.0437	10	0.38643	T	0.18	0.5848	0.2781	0.00241	0.2009:0.2888:0.1974:0.3128	.	308	Q15615	OR4D1_HUMAN	W	308	ENSP00000365451:C308W	ENSP00000365451:C308W	C	+	3	2	OR4D1	53588437	0.000000	0.05858	0.000000	0.03702	0.469000	0.32828	-1.935000	0.01550	0.195000	0.20347	0.543000	0.68304	TGC		0.393	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			G	56233438	C	G	56233438	3	3	367	1	0	0	0	0	1	0	0	0	11053	718	25	3	926	3	OR4D1	17	56233438	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	7411350	56233438	24961772	71	20281											
DNAH17	8632	genome.wustl.edu	37	17	76446421	76446421	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr17:76446421C>T	ENST00000585328.1	-	68	11064	c.10940G>A	c.(10939-10941)cGc>cAc	p.R3647H	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.R3638H	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3638					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCAGCCGGGCGGTAGTTCTC	0.517																																																0			17											130	105	114					17																	76446421		2203	4300	6503	73958016	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10940G>A	17.37:g.76446421C>T	ENSP00000465516:p.Arg3647His		73958016	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	16.93	3.257399	0.59321	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55052	0.54	4.76	3.78	0.43462	.	0.000000	0.56097	D	0.000026	T	0.82038	0.4950	H	0.98133	4.155	0.47153	D	0.999333	D	0.89917	1.0	D	0.83275	0.996	D	0.88422	0.3029	10	0.87932	D	0	.	14.3695	0.66830	0.1491:0.8509:0.0:0.0	.	3647	E7EUM8	.	H	3647;3638	ENSP00000374490:R3638H	ENSP00000300671:R3647H	R	-	2	0	DNAH17	73958016	1.000000	0.71417	0.795000	0.32087	0.046000	0.14306	5.881000	0.69706	0.986000	0.38683	0.555000	0.69702	CGC		0.517	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76446421	C	T	76446421	3	4	367	1	0	0	0	0	1	0	0	0	4601	768	27	1	2489	1	DNAH17	17	76446421	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	20212983	76446421	4748789	72	20282											
ZNF532	55205	genome.wustl.edu	37	18	56587591	56587591	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr18:56587591T>G	ENST00000336078.4	+	4	2848	c.2072T>G	c.(2071-2073)aTa>aGa	p.I691R	ZNF532_ENST00000591230.1_Missense_Mutation_p.I691R|ZNF532_ENST00000589288.1_Missense_Mutation_p.I691R|ZNF532_ENST00000591083.1_Missense_Mutation_p.I691R|ZNF532_ENST00000591808.1_Missense_Mutation_p.I691R	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	691					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GATCAAATGATAGTTTCTCCG	0.473																																																0			18											73	77	76					18																	56587591		2203	4300	6503	54738571	SO:0001583	missense	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2072T>G	18.37:g.56587591T>G	ENSP00000338217:p.Ile691Arg		54738571	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	t	13.60	2.286288	0.40494	.	.	ENSG00000074657	ENST00000336078	T	0.32023	1.47	5.43	5.43	0.79202	.	0.085758	0.85682	D	0.000000	T	0.43787	0.1263	L	0.48642	1.525	0.80722	D	1	D	0.63046	0.992	P	0.60236	0.871	T	0.15037	-1.0451	10	0.25106	T	0.35	-15.9494	15.2409	0.73468	0.0:0.0:0.0:1.0	.	691	Q9HCE3	ZN532_HUMAN	R	691	ENSP00000338217:I691R	ENSP00000338217:I691R	I	+	2	0	ZNF532	54738571	1.000000	0.71417	0.944000	0.38274	0.954000	0.61252	4.108000	0.57817	2.080000	0.62538	0.445000	0.29226	ATA		0.473	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		G	56587591	T	G	56587591	3	3	367	1	0	0	0	0	1	0	0	0	17972	1406	49	5	2074	5	ZNF532	18	56587591	Missense_Mutation	SNP	T	TCGA-30-1857-01A-02W-0639-09		56587591	21489657	73	20283											
CDH7	1005	genome.wustl.edu	37	18	63511136	63511136	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr18:63511136C>T	ENST00000397968.2	+	7	1496	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L	CDH7_ENST00000536984.2_Missense_Mutation_p.P357L|CDH7_ENST00000323011.3_Missense_Mutation_p.P357L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCTTGGGTCCGTTCAGTGAC	0.478																																																0			18											148	129	136					18																	63511136		2203	4300	6503	61662116	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1070C>T	18.37:g.63511136C>T	ENSP00000381058:p.Pro357Leu		61662116	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207273	0.58343	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.56941	0.43;0.43;0.43	4.67	4.67	0.58626	Cadherin (4);Cadherin-like (1);	0.063700	0.64402	D	0.000009	T	0.77545	0.4146	M	0.89095	3.005	0.80722	D	1	P;D	0.89917	0.487;1.0	B;D	0.91635	0.101;0.999	T	0.82313	-0.0519	10	0.66056	D	0.02	.	18.1055	0.89519	0.0:1.0:0.0:0.0	.	357;357	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	357	ENSP00000319166:P357L;ENSP00000443030:P357L;ENSP00000381058:P357L	ENSP00000319166:P357L	P	+	2	0	CDH7	61662116	1.000000	0.71417	0.952000	0.39060	0.073000	0.16967	7.275000	0.78548	2.554000	0.86153	0.655000	0.94253	CCG		0.478	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		T	63511136	C	T	63511136	3	4	367	1	0	0	0	0	1	0	0	0	3115	652	23	1	1092	1	CDH7	18	63511136	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	6923545	63511136	14566112	74	20284											
LDLR	3949	genome.wustl.edu	37	19	11213434	11213434	+	Nonsense_Mutation	SNP	C	C	A	rs139400379		TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr19:11213434C>A	ENST00000558518.1	+	3	472	c.285C>A	c.(283-285)tgC>tgA	p.C95*	LDLR_ENST00000455727.2_Nonsense_Mutation_p.C95*|LDLR_ENST00000545707.1_Nonsense_Mutation_p.C95*|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000557933.1_Nonsense_Mutation_p.C95*|LDLR_ENST00000558013.1_Nonsense_Mutation_p.C95*	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	95	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.		C -> G (in FH; Spanish patient).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AAGTGGACTGCGACAACGGCT	0.577																																					GBM(18;201 575 7820 21545)											1	Unknown(1)	lung(1)	19	GRCh37	CM983442	LDLR	M	rs139400379						147	123	131					19																	11213434		2203	4300	6503	11074434	SO:0001587	stop_gained	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.285C>A	19.37:g.11213434C>A	ENSP00000454071:p.Cys95*		11074434	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Nonsense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532358	0.27387	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000455727	.	.	.	5.65	-9.5	0.00584	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6284	0.84993	0.0:0.2341:0.0:0.7659	.	.	.	.	X	95	.	ENSP00000252444:C95X	C	+	3	2	LDLR	11074434	0.002000	0.14202	0.010000	0.14722	0.017000	0.09413	-1.457000	0.02374	-1.953000	0.01026	-1.130000	0.01982	TGC		0.577	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			A	11213434	C	A	11213434	4	1	367	1	0	0	0	0	0	1	0	0	8704	776	27	3	295	3	LDLR	19	11213434	Nonsense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09		11213434	47915549	75	20285											
UNC13A	23025	genome.wustl.edu	37	19	17737486	17737486	+	Silent	SNP	G	G	A	rs113693450	byFrequency	TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr19:17737486G>A	ENST00000519716.2	-	34	4028	c.4029C>T	c.(4027-4029)gaC>gaT	p.D1343D	UNC13A_ENST00000551649.1_Silent_p.D1343D|UNC13A_ENST00000252773.7_Silent_p.D1343D|UNC13A_ENST00000552293.1_Silent_p.D1343D|UNC13A_ENST00000428389.2_Silent_p.D1431D|UNC13A_ENST00000550896.1_Silent_p.D1341D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1343					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATTGTCCGCGTCCTGGGCCA	0.622													g|||	85	0.0169728	0.0068	0.0274	5008	,	,		20526	0.001		0.0517	False		,,,				2504	0.0041															0			19								42,4274		0,42,2116	28	29	29		4029	-4.9	0.9	19	dbSNP_132	29	509,7995		16,477,3759	no	coding-synonymous	UNC13A	NM_001080421.2		16,519,5875	AA,AG,GG		5.9854,0.9731,4.298		1343/1704	17737486	551,12269	2158	4252	6410	17598486	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4029C>T	19.37:g.17737486G>A			17598486	E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																				0.622	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		A	17737486	G	A	17737486	2	1	367	1	0	0	0	0	0	0	0	1	16984	1136	40	1		1	UNC13A	19	17737486	Silent	SNP	G	TCGA-30-1857-01A-02W-0639-09	6524052	17737486	41391497	76	20286											
DMRTC2	63946	genome.wustl.edu	37	19	42354724	42354724	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr19:42354724C>A	ENST00000269945.3	+	8	998	c.947C>A	c.(946-948)cCc>cAc	p.P316H	DMRTC2_ENST00000596827.1_Missense_Mutation_p.P367H	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	316	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TCTGTGCCCCCCAACCCTGCC	0.602																																																0			19											48	46	47					19																	42354724		2203	4300	6503	47046564	SO:0001583	missense	63946			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.947C>A	19.37:g.42354724C>A	ENSP00000269945:p.Pro316His		47046564	Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290735	0.40494	.	.	ENSG00000142025	ENST00000269945	T	0.37058	1.22	4.73	3.69	0.42338	.	0.808768	0.10432	N	0.675382	T	0.42720	0.1215	L	0.44542	1.39	0.21105	N	0.99978	D;D	0.63880	0.993;0.97	P;P	0.53185	0.72;0.541	T	0.22452	-1.0216	10	0.87932	D	0	-5.1606	9.5166	0.39109	0.0:0.8986:0.0:0.1014	.	367;316	B4DX56;Q8IXT2	.;DMRTD_HUMAN	H	316	ENSP00000269945:P316H	ENSP00000269945:P316H	P	+	2	0	DMRTC2	47046564	0.020000	0.18652	0.162000	0.22713	0.482000	0.33219	3.664000	0.54525	1.318000	0.45170	0.585000	0.79938	CCC		0.602	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		A	42354724	C	A	42354724	3	1	367	1	0	0	0	0	1	0	0	0	4591	623	22	3	973	3	DMRTC2	19	42354724	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	24617238	42354724	16774259	77	20287											
PSG3	5671	genome.wustl.edu	37	19	43244487	43244487	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr19:43244487C>T	ENST00000327495.5	-	1	234	c.50G>A	c.(49-51)gGg>gAg	p.G17E	PSG3_ENST00000595140.1_Missense_Mutation_p.G17E|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	17					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GAGCAGGAGCCCCTTCCAGGT	0.612																																																0			19											118	137	130					19																	43244487		1511	2707	4218	47936327	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.50G>A	19.37:g.43244487C>T	ENSP00000332215:p.Gly17Glu		47936327	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	9.138	1.013021	0.19277	.	.	ENSG00000221826	ENST00000327495	T	0.20738	2.05	1.21	0.0791	0.14414	.	.	.	.	.	T	0.29652	0.0740	L	0.61218	1.895	0.09310	N	1	D	0.56035	0.974	P	0.57911	0.829	T	0.14200	-1.0481	9	0.31617	T	0.26	.	3.6282	0.08121	0.0:0.7274:0.0:0.2726	.	17	Q16557	PSG3_HUMAN	E	17	ENSP00000332215:G17E	ENSP00000332215:G17E	G	-	2	0	PSG3	47936327	0.000000	0.05858	0.002000	0.10522	0.097000	0.18754	-0.157000	0.10085	0.096000	0.17463	0.121000	0.15741	GGG		0.612	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43244487	C	T	43244487	3	4	367	1	0	0	0	0	1	0	0	0	12659	623	22	2	1260	2	PSG3	19	43244487	Missense_Mutation	SNP	C	TCGA-30-1857-01A-02W-0639-09	889763	43244487	15884496	78	20288											
GDF5	8200	genome.wustl.edu	37	20	34022100	34022100	+	Silent	SNP	C	C	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr20:34022100C>T	ENST00000374372.1	-	4	1616	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	GDF5OS_ENST00000374375.1_Silent_p.Y48Y|GDF5_ENST00000374369.3_Silent_p.E371E			P43026	GDF5_HUMAN	growth differentiation factor 5	371					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGAACAGGTACTCATACACGG	0.592																																																0			20											95	97	97					20																	34022100		2203	4300	6503	33485514	SO:0001819	synonymous_variant	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1113G>A	20.37:g.34022100C>T			33485514	E1P5Q2|Q96SB1	Silent	SNP	ENST00000374372.1	37	CCDS13254.1																																																																																				0.592	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			T	34022100	C	T	34022100	2	4	367	1	0	0	0	0	0	0	0	1	6316	564	20	2		2	GDF5	20	34022100	Silent	SNP	C	TCGA-30-1857-01A-02W-0639-09		34022100	29003420	79	20289											
ZSWIM3	140831	genome.wustl.edu	37	20	44507167	44507167	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chr20:44507167A>T	ENST00000255152.2	+	2	2179	c.1970A>T	c.(1969-1971)cAg>cTg	p.Q657L	ZSWIM1_ENST00000372520.1_5'Flank|ZSWIM1_ENST00000372523.1_5'Flank|ZSWIM3_ENST00000454862.2_Missense_Mutation_p.Q651L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	657							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGCCCCTCCCAGCCATCTGAG	0.592																																																0			20											100	107	105					20																	44507167		2203	4300	6503	43940574	SO:0001583	missense	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1970A>T	20.37:g.44507167A>T	ENSP00000255152:p.Gln657Leu		43940574	Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	A	9.721	1.159559	0.21454	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.24151	1.89;1.87	5.03	5.03	0.67393	.	0.096349	0.43110	D	0.000606	T	0.19967	0.0480	L	0.27053	0.805	0.30899	N	0.729431	B;B	0.33694	0.421;0.421	B;B	0.32864	0.154;0.107	T	0.17930	-1.0353	10	0.66056	D	0.02	-16.7698	13.8768	0.63657	1.0:0.0:0.0:0.0	.	651;657	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	L	657;651	ENSP00000255152:Q657L;ENSP00000406313:Q651L	ENSP00000255152:Q657L	Q	+	2	0	ZSWIM3	43940574	0.997000	0.39634	0.358000	0.25811	0.137000	0.21094	5.046000	0.64226	2.126000	0.65437	0.459000	0.35465	CAG		0.592	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		T	44507167	A	T	44507167	3	4	367	1	0	0	0	0	1	0	0	0	18242	188	7	5	1976	5	ZSWIM3	20	44507167	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09	10485067	44507167	18518353	80	20290											
FOXP3	50943	genome.wustl.edu	37	X	49110497	49110497	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1857-01A-02W-0639-09	TCGA-30-1857-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	cc2a574f-dc4d-42a8-9443-e9629c732e04	63bb87b6-b030-47ed-9e85-d7219ec8a137	g.chrX:49110497A>G	ENST00000376207.4	-	9	1035	c.848T>C	c.(847-849)gTa>gCa	p.V283A	FOXP3_ENST00000376199.2_Missense_Mutation_p.V248A|FOXP3_ENST00000376197.1_Missense_Mutation_p.V233A|FOXP3_ENST00000455775.2_Missense_Mutation_p.V256A|FOXP3_ENST00000557224.1_Missense_Mutation_p.V248A|FOXP3_ENST00000518685.1_Missense_Mutation_p.V248A	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	283					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GCCAGCAGCTACGATGCAGCA	0.597																																					GBM(182;1432 2112 16160 23073 31774)											0			X											20	17	18					X																	49110497		2203	4297	6500	48997441	SO:0001583	missense	50943				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.848T>C	X.37:g.49110497A>G	ENSP00000365380:p.Val283Ala		48997441	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357001	0.41801	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.97888	-3.64;-3.6;-4.59;-3.6;-4.55;-3.95	5.46	3.11	0.35812	.	0.694589	0.12751	N	0.442200	D	0.93635	0.7967	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0	B;B;B;B;B	0.12156	0.0;0.001;0.007;0.0;0.001	D	0.84926	0.0857	10	0.21014	T	0.42	.	4.5357	0.12028	0.6726:0.0:0.3274:0.0	.	256;306;248;283;248	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	A	283;248;248;248;233;256	ENSP00000365380:V283A;ENSP00000365372:V248A;ENSP00000451208:V248A;ENSP00000428952:V248A;ENSP00000365369:V233A;ENSP00000396415:V256A	ENSP00000365369:V233A	V	-	2	0	FOXP3	48997441	0.056000	0.20664	0.064000	0.19789	0.300000	0.27592	0.397000	0.20883	0.732000	0.32470	0.347000	0.21830	GTA		0.597	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		G	49110497	A	G	49110497	3	3	367	1	0	0	0	0	1	0	0	0	6028	391	14	4	463	4	FOXP3	23	49110497	Missense_Mutation	SNP	A	TCGA-30-1857-01A-02W-0639-09		49110497	106160063	81	20291											
FAM73A	374986	broad.mit.edu	37	1	78309037	78309037	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr1:78309037G>T	ENST00000370791.3	+	8	973	c.941G>T	c.(940-942)gGc>gTc	p.G314V	FAM73A_ENST00000443751.2_Missense_Mutation_p.G276V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	314						integral component of membrane (GO:0016021)		p.G314V(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAAGACTTTGGCCTGCGAGAC	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											142	135	138					1																	78309037		2203	4300	6503	78081625	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.941G>T	1.37:g.78309037G>T	ENSP00000359827:p.Gly314Val		78081625	Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593546	0.28357	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.22336	1.96;1.96	5.98	5.01	0.66863	.	0.340327	0.36200	N	0.002737	T	0.12561	0.0305	L	0.52573	1.65	0.58432	D	0.999998	B;B;P;B	0.38827	0.161;0.193;0.649;0.193	B;B;B;B	0.39258	0.079;0.129;0.295;0.129	T	0.02464	-1.1155	10	0.29301	T	0.29	1.7477	14.3926	0.66989	0.0:0.0:0.8527:0.1473	.	276;314;314;314	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	V	314;276	ENSP00000359827:G314V;ENSP00000393675:G276V	ENSP00000359827:G314V	G	+	2	0	FAM73A	78081625	1.000000	0.71417	0.995000	0.50966	0.760000	0.43138	2.855000	0.48333	2.838000	0.97847	0.655000	0.94253	GGC		0.408	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		T	78309037	G	T	78309037	3	4	368	1	0	0	0	0	1	0	0	0	5617	1203	42	3	971	3	FAM73A	1	78309037	Missense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08		78309037	170941584	1	20292											
TCHHL1	126637	broad.mit.edu	37	1	152059451	152059451	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr1:152059451T>G	ENST00000368806.1	-	3	771	c.707A>C	c.(706-708)gAt>gCt	p.D236A		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	236							calcium ion binding (GO:0005509)	p.D236A(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTGGTTCATCTCCTTCCTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											150	135	140					1																	152059451		2203	4300	6503	150326075	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.707A>C	1.37:g.152059451T>G	ENSP00000357796:p.Asp236Ala		150326075	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	11.76	1.735520	0.30774	.	.	ENSG00000182898	ENST00000368806	T	0.26518	1.73	5.1	-4.14	0.03892	.	1.066260	0.07419	N	0.893608	T	0.05777	0.0151	L	0.57536	1.79	0.09310	N	1	P	0.35575	0.51	B	0.26094	0.066	T	0.30357	-0.9981	10	0.16896	T	0.51	0.2487	5.3807	0.16189	0.0:0.3383:0.2813:0.3804	.	236	Q5QJ38	TCHL1_HUMAN	A	236	ENSP00000357796:D236A	ENSP00000357796:D236A	D	-	2	0	TCHHL1	150326075	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.600000	0.05693	-0.340000	0.08388	-0.377000	0.06932	GAT		0.463	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		G	152059451	T	G	152059451	3	3	368	1	0	0	0	0	1	0	0	0	15701	1435	50	5	2011	5	TCHHL1	1	152059451	Missense_Mutation	SNP	T	TCGA-30-1862-01A-02W-0699-08	73750414	152059451	97191170	2	20293											
LYPD6B	130576	broad.mit.edu	37	2	150069509	150069509	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr2:150069509C>T	ENST00000409029.1	+	6	462	c.260C>T	c.(259-261)aCa>aTa	p.T87I	LYPD6B_ENST00000409876.1_Missense_Mutation_p.T87I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.T111I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409642.3_Missense_Mutation_p.T111I			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	87	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T111I(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TGCCTAGATACACAGTACTGT	0.383																																																1	Substitution - Missense(1)	ovary(1)	2											73	72	72					2																	150069509		1971	4164	6135	149777755	SO:0001583	missense	130576				CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"cancer/testis antigen 116"					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.260C>T	2.37:g.150069509C>T	ENSP00000386650:p.Thr87Ile		149777755	D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37		.	.	.	.	.	.	.	.	.	.	C	23.4	4.415256	0.83449	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.66	5.66	0.87406	Ly-6 antigen / uPA receptor -like (1);	0.125142	0.52532	D	0.000072	T	0.43077	0.1231	M	0.70275	2.135	0.48901	D	0.999725	D;D	0.63046	0.984;0.992	P;P	0.59703	0.77;0.862	T	0.13683	-1.0500	9	.	.	.	-15.9635	17.2354	0.86997	0.0:1.0:0.0:0.0	.	87;111	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	I	111;87;87;111	ENSP00000387077:T111I;ENSP00000386479:T87I;ENSP00000386650:T87I;ENSP00000280115:T111I	.	T	+	2	0	LYPD6B	149777755	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	6.117000	0.71577	2.674000	0.91012	0.655000	0.94253	ACA		0.383	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		T	150069509	C	T	150069509	3	4	368	1	0	0	0	0	1	0	0	0	9115	478	17	2	350	2	LYPD6B	2	150069509	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08		150069509	93129864	3	20294											
MED12L	116931	broad.mit.edu	37	3	150911297	150911297	+	Silent	SNP	A	A	G			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr3:150911297A>G	ENST00000474524.1	+	14	2027	c.1989A>G	c.(1987-1989)ggA>ggG	p.G663G	MED12L_ENST00000422248.2_Silent_p.G663G|MED12L_ENST00000273432.4_Silent_p.G523G|MED12L_ENST00000309237.4_Silent_p.G698G	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	663						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.G663G(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTATGCCTGGAGAATCCTGTG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	3											68	67	68					3																	150911297		2203	4300	6503	152393987	SO:0001819	synonymous_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1989A>G	3.37:g.150911297A>G			152393987	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	9.942	1.217802	0.22373	.	.	ENSG00000144893	ENST00000480026	.	.	.	5.37	4.2	0.49525	.	.	.	.	.	T	0.49372	0.1553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43909	-0.9362	4	.	.	.	-5.9181	4.5225	0.11966	0.6342:0.1621:0.2037:0.0	.	.	.	.	G	13	.	.	R	+	1	2	MED12L	152393987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.843000	0.27640	0.953000	0.37825	0.533000	0.62120	AGA		0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		G	150911297	A	G	150911297	2	3	368	1	0	0	0	0	0	0	0	1	9429	291	11	4		4	MED12L	3	150911297	Silent	SNP	A	TCGA-30-1862-01A-02W-0699-08		150911297	47111133	4	20295											
PCDHA5	56143	broad.mit.edu	37	5	140202018	140202018	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr5:140202018G>A	ENST00000529859.1	+	1	658	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E220K|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E220K|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E220K(3)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAAACCCGAACTAACAGG	0.358																																																3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	5											98	104	102					5																	140202018		2203	4300	6503	140182202	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.658G>A	5.37:g.140202018G>A	ENSP00000436557:p.Glu220Lys		140182202	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413802	0.42817	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.51325	0.71;0.71;0.71	4.02	4.02	0.46733	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51941	0.1704	M	0.64567	1.98	0.09310	N	1	P;P;P	0.44627	0.827;0.839;0.839	P;B;B	0.48704	0.587;0.241;0.175	T	0.47394	-0.9121	9	0.66056	D	0.02	.	7.8112	0.29232	0.0898:0.164:0.7462:0.0	.	220;220;220	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	K	220	ENSP00000433416:E220K;ENSP00000436557:E220K;ENSP00000367366:E220K	ENSP00000367366:E220K	E	+	1	0	PCDHA5	140182202	0.000000	0.05858	1.000000	0.80357	0.960000	0.62799	0.341000	0.19909	1.946000	0.56461	0.591000	0.81541	GAA		0.358	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140202018	G	A	140202018	3	1	368	1	0	0	0	0	1	0	0	0	11527	1059	37	1	660	1	PCDHA5	5	140202018	Missense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08		140202018	40713242	5	20296											
PCDHGB1	56104	broad.mit.edu	37	5	140731005	140731005	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr5:140731005C>A	ENST00000523390.1	+	1	1178	c.1178C>A	c.(1177-1179)aCc>aAc	p.T393N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T393N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGAATCCACCTCGAAGAAT	0.458																																																1	Substitution - Missense(1)	ovary(1)	5											57	58	58					5																	140731005		1931	4138	6069	140711189	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1178C>A	5.37:g.140731005C>A	ENSP00000429273:p.Thr393Asn		140711189	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.00	1.807780	0.31961	.	.	ENSG00000254221	ENST00000523390	T	0.20200	2.09	5.49	4.6	0.57074	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.25158	0.0611	L	0.45137	1.4	0.18873	N	0.999989	B;B	0.31383	0.321;0.257	B;B	0.36030	0.138;0.216	T	0.20240	-1.0281	9	0.72032	D	0.01	.	15.4794	0.75514	0.1399:0.8601:0.0:0.0	.	393;393	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	N	393	ENSP00000429273:T393N	ENSP00000429273:T393N	T	+	2	0	PCDHGB1	140711189	0.000000	0.05858	0.474000	0.27266	0.760000	0.43138	1.175000	0.31944	1.403000	0.46800	0.563000	0.77884	ACC		0.458	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		A	140731005	C	A	140731005	3	1	368	1	0	0	0	0	1	0	0	0	11562	507	18	3	1180	3	PCDHGB1	5	140731005	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08	528987	140731005	40184255	6	20297											
FAT2	2196	broad.mit.edu	37	5	150891889	150891889	+	Silent	SNP	A	A	G			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr5:150891889A>G	ENST00000261800.5	-	20	11754	c.11742T>C	c.(11740-11742)gaT>gaC	p.D3914D	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3914	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D3914D(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACGACAGCATCCAGGCAGC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	5											79	76	77					5																	150891889		2203	4300	6503	150872082	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11742T>C	5.37:g.150891889A>G			150872082	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	9.723	1.160120	0.21454	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.16	1.51	0.23008	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50792	-0.8786	4	.	.	.	.	9.0108	0.36139	0.6276:0.0:0.3724:0.0	.	.	.	.	R	687	.	.	C	-	1	0	FAT2	150872082	0.979000	0.34478	0.992000	0.48379	0.950000	0.60333	0.174000	0.16743	0.381000	0.24851	0.533000	0.62120	TGC		0.602	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150891889	A	G	150891889	2	3	368	1	0	0	0	0	0	0	0	1	5690	214	8	4		4	FAT2	5	150891889	Silent	SNP	A	TCGA-30-1862-01A-02W-0699-08	10160884	150891889	30023371	7	20298											
GPRC6A	222545	broad.mit.edu	37	6	117127585	117127585	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr6:117127585T>C	ENST00000310357.3	-	3	1304	c.1283A>G	c.(1282-1284)gAt>gGt	p.D428G	GPRC6A_ENST00000368549.3_Missense_Mutation_p.D428G|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	428					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D428G(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTGACACAGATCCCGAATGGC	0.468																																																1	Substitution - Missense(1)	ovary(1)	6											110	95	100					6																	117127585		2203	4299	6502	117234278	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1283A>G	6.37:g.117127585T>C	ENSP00000309493:p.Asp428Gly		117234278	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.337121	0.24253	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.86297	-2.1;-2.1	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.128312	0.36167	N	0.002755	T	0.74543	0.3730	L	0.45698	1.435	0.80722	D	1	B;B	0.15473	0.013;0.009	B;B	0.16289	0.011;0.015	T	0.73445	-0.3980	10	0.41790	T	0.15	.	10.3723	0.44062	0.0:0.0815:0.0:0.9185	.	428;428	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	G	428	ENSP00000309493:D428G;ENSP00000357537:D428G	ENSP00000309493:D428G	D	-	2	0	GPRC6A	117234278	0.977000	0.34250	0.997000	0.53966	0.610000	0.37248	1.866000	0.39489	2.307000	0.77673	0.528000	0.53228	GAT		0.468	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			C	117127585	T	C	117127585	3	2	368	1	0	0	0	0	1	0	0	0	6728	1435	50	4	1513	4	GPRC6A	6	117127585	Missense_Mutation	SNP	T	TCGA-30-1862-01A-02W-0699-08		117127585	53987482	8	20299											
PLEKHG1	57480	broad.mit.edu	37	6	151055188	151055188	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr6:151055188C>A	ENST00000358517.2	+	2	582	c.371C>A	c.(370-372)aCc>aAc	p.T124N	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.T124N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	124	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T124N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATTCTGGAAACCGAAAGGACT	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											77	85	83					6																	151055188		2203	4300	6503	151096881	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.371C>A	6.37:g.151055188C>A	ENSP00000351318:p.Thr124Asn		151096881	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712554	0.89112	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.77620	-1.11;-1.11	5.66	4.8	0.61643	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91839	0.5482	9	.	.	.	.	14.8863	0.70572	0.0:0.931:0.0:0.069	.	124;124	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	N	124	ENSP00000356297:T124N;ENSP00000351318:T124N	.	T	+	2	0	PLEKHG1	151096881	1.000000	0.71417	0.891000	0.34965	0.985000	0.73830	7.173000	0.77612	1.535000	0.49220	0.655000	0.94253	ACC		0.458	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			A	151055188	C	A	151055188	3	1	368	1	0	0	0	0	1	0	0	0	12068	507	18	3	373	3	PLEKHG1	6	151055188	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08	33927603	151055188	20059879	9	20300											
SDK1	221935	broad.mit.edu	37	7	4089017	4089017	+	Silent	SNP	C	C	T			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr7:4089017C>T	ENST00000404826.2	+	18	2779	c.2640C>T	c.(2638-2640)gcC>gcT	p.A880A	SDK1_ENST00000389531.3_Silent_p.A880A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	880	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A880A(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGACGGAAGCCGTGAACTCCA	0.592																																																1	Substitution - coding silent(1)	ovary(1)	7											89	76	80					7																	4089017		2203	4300	6503	4055543	SO:0001819	synonymous_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2640C>T	7.37:g.4089017C>T			4055543	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4089017	C	T	4089017	2	4	368	1	0	0	0	0	0	0	0	1	13971	639	23	1		1	SDK1	7	4089017	Silent	SNP	C	TCGA-30-1862-01A-02W-0699-08		4089017	155049646	10	20301											
EPHB6	2051	broad.mit.edu	37	7	142561396	142561396	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr7:142561396G>T	ENST00000392957.2	+	6	895	c.108G>T	c.(106-108)ttG>ttT	p.L36F	EPHB6_ENST00000442129.1_Missense_Mutation_p.L36F|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	36	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.L21F(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGAGGTATTGCTGGACACCA	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											80	77	78					7																	142561396		2203	4300	6503	142271518	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.108G>T	7.37:g.142561396G>T	ENSP00000376684:p.Leu36Phe		142271518	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740981	0.69304	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.20463	2.07;2.07	5.45	3.62	0.41486	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.35525	N	0.003143	T	0.42765	0.1217	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.26744	-1.0094	10	0.87932	D	0	.	8.532	0.33340	0.0745:0.0:0.6412:0.2843	.	36	O15197	EPHB6_HUMAN	F	36	ENSP00000376684:L36F;ENSP00000410789:L36F	ENSP00000376684:L36F	L	+	3	2	EPHB6	142271518	0.990000	0.36364	0.950000	0.38849	0.995000	0.86356	0.078000	0.14761	0.645000	0.30675	0.557000	0.71058	TTG		0.582	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			T	142561396	G	T	142561396	3	4	368	1	0	0	0	0	1	0	0	0	5178	1310	46	3	114	3	EPHB6	7	142561396	Missense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08	138472379	142561396	16577267	11	20302											
ABCF2	10061	broad.mit.edu	37	7	150912711	150912711	+	Nonsense_Mutation	SNP	G	G	C			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr7:150912711G>C	ENST00000287844.2	-	13	1618	c.1509C>G	c.(1507-1509)taC>taG	p.Y503*	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Nonsense_Mutation_p.Y503*	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	503	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.Y503*(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTGAGACCGTATCGCCCAA	0.517																																																1	Substitution - Nonsense(1)	ovary(1)	7											320	280	294					7																	150912711		2203	4300	6503	150543644	SO:0001587	stop_gained	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1509C>G	7.37:g.150912711G>C	ENSP00000287844:p.Tyr503*		150543644	O60864|Q75MJ0|Q75MJ1|Q96TE8	Nonsense_Mutation	SNP	ENST00000287844.2	37	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088336	0.76756	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	.	.	.	5.76	-8.5	0.00927	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-20.8941	17.5001	0.87728	0.7003:0.0:0.2997:0.0	.	.	.	.	X	503	.	ENSP00000222388:Y503X	Y	-	3	2	ABCF2	150543644	0.001000	0.12720	0.675000	0.29917	0.486000	0.33341	-1.322000	0.02695	-1.767000	0.01300	-0.793000	0.03317	TAC		0.517	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		C	150912711	G	C	150912711	4	2	368	1	0	0	0	0	0	1	0	0	66	1140	40	3	415	3	ABCF2	7	150912711	Nonsense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08	8351315	150912711	8225952	12	20303											
EYA1	2138	broad.mit.edu	37	8	72182016	72182016	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr8:72182016G>A	ENST00000340726.3	-	11	1648	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	EYA1_ENST00000419131.1_Missense_Mutation_p.H332Y|EYA1_ENST00000388743.2_Missense_Mutation_p.H336Y|EYA1_ENST00000303824.7_Missense_Mutation_p.H331Y|EYA1_ENST00000388742.4_Missense_Mutation_p.H337Y|EYA1_ENST00000388740.3_Missense_Mutation_p.H304Y|EYA1_ENST00000388741.2_Missense_Mutation_p.H303Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	337					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.H337Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGCAAGGAGTGGAAAACAATG	0.408																																																1	Substitution - Missense(1)	ovary(1)	8											169	154	159					8																	72182016		2203	4300	6503	72344570	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1009C>T	8.37:g.72182016G>A	ENSP00000342626:p.His337Tyr		72344570	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253353	0.95336	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.045600	0.85682	D	0.000000	D	0.91686	0.7372	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.988;0.988;0.98;0.991	D;P;P;D;D	0.76575	0.988;0.87;0.87;0.956;0.92	D	0.91804	0.5454	10	0.87932	D	0	-19.0707	20.1802	0.98196	0.0:0.0:1.0:0.0	.	331;264;304;337;332	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Y	337;337;305;304;331;303;336;332	ENSP00000373394:H337Y;ENSP00000342626:H337Y;ENSP00000373392:H304Y;ENSP00000303221:H331Y;ENSP00000373393:H303Y;ENSP00000373395:H336Y;ENSP00000410176:H332Y	ENSP00000303221:H331Y	H	-	1	0	EYA1	72344570	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.414000	0.97362	2.777000	0.95525	0.655000	0.94253	CAC		0.408	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		A	72182016	G	A	72182016	3	1	368	1	0	0	0	0	1	0	0	0	5328	1348	47	2	801	2	EYA1	8	72182016	Missense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08		72182016	74182006	13	20304											
UBR5	51366	broad.mit.edu	37	8	103354762	103354762	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr8:103354762T>C	ENST00000520539.1	-	9	1643	c.1037A>G	c.(1036-1038)aAg>aGg	p.K346R	UBR5_ENST00000220959.4_Missense_Mutation_p.K346R|UBR5_ENST00000521922.1_Missense_Mutation_p.K340R	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	346					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.K346R(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)			AGGTGTATTCTTCTTATCCAA	0.418																																					Ovarian(131;96 1741 5634 7352 27489)											1	Substitution - Missense(1)	ovary(1)	8											191	178	183					8																	103354762		2203	4300	6503	103423938	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.1037A>G	8.37:g.103354762T>C	ENSP00000429084:p.Lys346Arg		103423938	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002336	0.74932	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.48201	0.84;0.84;0.82	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	L	0.42744	1.35	0.53688	D	0.999979	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.54938	-0.8218	10	0.34782	T	0.22	.	15.4455	0.75225	0.0:0.0:0.0:1.0	.	340;346	E7EMW7;O95071	.;UBR5_HUMAN	R	346;346;340	ENSP00000429084:K346R;ENSP00000220959:K346R;ENSP00000427819:K340R	ENSP00000220959:K346R	K	-	2	0	UBR5	103423938	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.997000	0.88414	2.110000	0.64415	0.533000	0.62120	AAG		0.418	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		C	103354762	T	C	103354762	3	2	368	1	0	0	0	0	1	0	0	0	16905	1609	56	4	7566	4	UBR5	8	103354762	Missense_Mutation	SNP	T	TCGA-30-1862-01A-02W-0699-08	31172746	103354762	43009260	14	20305											
CSMD3	114788	broad.mit.edu	37	8	113403011	113403011	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr8:113403011C>G	ENST00000297405.5	-	36	6060	c.5816G>C	c.(5815-5817)tGt>tCt	p.C1939S	CSMD3_ENST00000352409.3_Missense_Mutation_p.C1869S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1899S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1835S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1939	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C1939S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTCCACCACAGGGCACTGA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											74	68	70					8																	113403011		2203	4300	6503	113472187	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5816G>C	8.37:g.113403011C>G	ENSP00000297405:p.Cys1939Ser		113472187	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424488	0.43020	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.24	4.35	0.52113	CUB (5);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	H	0.96748	3.875	0.53688	D	0.999977	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.942;0.999;0.999	D	0.99494	1.0951	10	0.41790	T	0.15	.	15.9478	0.79806	0.0:0.8648:0.1352:0.0	.	1835;1939;1899	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1899;1939;1209;1835;1869	ENSP00000345799:C1899S;ENSP00000297405:C1939S;ENSP00000341558:C1209S;ENSP00000412263:C1835S;ENSP00000343124:C1869S	ENSP00000297405:C1939S	C	-	2	0	CSMD3	113472187	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	7.640000	0.83355	1.430000	0.47334	-0.499000	0.04595	TGT		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113403011	C	G	113403011	3	3	368	1	0	0	0	0	1	0	0	0	3946	478	17	3	5451	3	CSMD3	8	113403011	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08	10048249	113403011	32961011	15	20306											
ATAD2	29028	broad.mit.edu	37	8	124361587	124361587	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr8:124361587G>T	ENST00000287394.5	-	14	1851	c.1744C>A	c.(1744-1746)Cct>Act	p.P582T	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	582					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P582T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGTAAAGCAGGATCTATAGAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	8											143	130	134					8																	124361587		2203	4300	6503	124430768	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1744C>A	8.37:g.124361587G>T	ENSP00000287394:p.Pro582Thr		124430768	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062214	0.93846	.	.	ENSG00000156802	ENST00000287394	D	0.95788	-3.81	5.7	5.7	0.88788	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.051308	0.85682	D	0.000000	D	0.98021	0.9348	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98490	1.0609	10	0.87932	D	0	-18.0166	19.8338	0.96646	0.0:0.0:1.0:0.0	.	582	Q6PL18	ATAD2_HUMAN	T	582	ENSP00000287394:P582T	ENSP00000287394:P582T	P	-	1	0	ATAD2	124430768	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.692000	0.91855	0.591000	0.81541	CCT		0.408	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		T	124361587	G	T	124361587	3	4	368	1	0	0	0	0	1	0	0	0	1071	1174	41	3	2488	3	ATAD2	8	124361587	Missense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08	10958576	124361587	22002435	16	20307											
FPGS	2356	broad.mit.edu	37	9	130569338	130569338	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr9:130569338G>A	ENST00000373247.2	+	5	523	c.473G>A	c.(472-474)cGc>cAc	p.R158H	FPGS_ENST00000373245.1_Missense_Mutation_p.R158H|FPGS_ENST00000373225.3_Missense_Mutation_p.R108H|FPGS_ENST00000393706.2_Missense_Mutation_p.R158H|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	158					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)	p.R158H(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TACTTCTGGCGCCTCTACCAC	0.642																																																1	Substitution - Missense(1)	ovary(1)	9											79	75	76					9																	130569338		2203	4300	6503	129609159	SO:0001583	missense	2356				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.473G>A	9.37:g.130569338G>A	ENSP00000362344:p.Arg158His		129609159	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.082301	0.36758	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.32272	2.91;1.46;2.91;1.46;2.49	5.45	-2.91	0.05631	Mur ligase, central (2);	0.487574	0.24917	N	0.034571	T	0.18425	0.0442	L	0.44542	1.39	0.24754	N	0.992968	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.08006	-1.0743	10	0.42905	T	0.14	7.0E-4	3.7748	0.08656	0.5254:0.1043:0.2534:0.1169	.	158;158	Q05932-4;Q05932	.;FOLC_HUMAN	H	158;158;158;158;108;108;108	ENSP00000362344:R158H;ENSP00000362342:R158H;ENSP00000377309:R158H;ENSP00000362325:R158H;ENSP00000362322:R108H	ENSP00000362322:R108H	R	+	2	0	FPGS	129609159	0.991000	0.36638	0.867000	0.34043	0.595000	0.36748	1.127000	0.31357	-1.009000	0.03400	-0.405000	0.06341	CGC		0.642	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			A	130569338	G	A	130569338	3	1	368	1	0	0	0	0	1	0	0	0	6036	1087	38	1	491	1	FPGS	9	130569338	Missense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08		130569338	10644093	17	20308											
LZTS2	84445	broad.mit.edu	37	10	102763470	102763470	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr10:102763470T>A	ENST00000370220.1	+	2	3678	c.615T>A	c.(613-615)ttT>ttA	p.F205L	LZTS2_ENST00000370223.3_Missense_Mutation_p.F205L					leucine zipper, putative tumor suppressor 2									p.F68L(1)|p.F205L(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCCTGGCATTTAGTGGCTGGG	0.637																																					Esophageal Squamous(8;38 437 13604 19902 37640)											2	Substitution - Missense(2)	ovary(2)	10											116	141	132					10																	102763470		2203	4299	6502	102753460	SO:0001583	missense	84445			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.615T>A	10.37:g.102763470T>A	ENSP00000359240:p.Phe205Leu		102753460		Missense_Mutation	SNP	ENST00000370220.1	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	T	9.635	1.137520	0.21123	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.27256	1.68;1.68	5.12	2.2	0.27929	.	0.421096	0.24927	N	0.034491	T	0.05090	0.0136	N	0.00436	-1.5	0.22940	N	0.998533	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	10	0.11485	T	0.65	-7.7833	4.2692	0.10778	0.1427:0.1235:0.6018:0.1319	.	205	Q9BRK4	LZTS2_HUMAN	L	205	ENSP00000359243:F205L;ENSP00000359240:F205L	ENSP00000314437:F205L	F	+	3	2	LZTS2	102753460	0.992000	0.36948	1.000000	0.80357	0.936000	0.57629	0.582000	0.23834	0.253000	0.21552	-1.222000	0.01597	TTT		0.637	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		A	102763470	T	A	102763470	3	1	368	1	0	0	0	0	1	0	0	0	9139	1751	61	5	621	5	LZTS2	10	102763470	Missense_Mutation	SNP	T	TCGA-30-1862-01A-02W-0699-08		102763470	32771277	18	20309											
MS4A8B	83661	broad.mit.edu	37	11	60470943	60470943	+	Nonsense_Mutation	SNP	C	C	G	rs144254483		TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr11:60470943C>G	ENST00000300226.2	+	3	515	c.312C>G	c.(310-312)taC>taG	p.Y104*		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	104						integral component of membrane (GO:0016021)		p.Y104*(1)									TTTCATTCTACGGAGGCTTTC	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	11											145	137	140					11																	60470943		2203	4300	6503	60227519	SO:0001587	stop_gained	83661			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.312C>G	11.37:g.60470943C>G	ENSP00000300226:p.Tyr104*		60227519	Q8TCA5	Nonsense_Mutation	SNP	ENST00000300226.2	37	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.178|4.178	0.031611|0.031611	0.08101|0.08101	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000525458|ENST00000300226;ENST00000529752	.|.	.|.	.|.	3.62|3.62	-6.53|-6.53	0.01866|0.01866	.|.	.|1.355710	.|0.04604	.|N	.|0.399131	T|.	0.06005|.	0.0156|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27468|.	-1.0073|.	3|.	.|0.02654	.|T	.|1	-1.3113|-1.3113	2.3175|2.3175	0.04202|0.04202	0.1341:0.2077:0.1332:0.5251|0.1341:0.2077:0.1332:0.5251	.|.	.|.	.|.	.|.	R|X	86|104	.|.	.|ENSP00000300226:Y104X	T|Y	+|+	2|3	0|2	MS4A8B|MS4A8B	60227519|60227519	0.000000|0.000000	0.05858|0.05858	0.626000|0.626000	0.29213|0.29213	0.263000|0.263000	0.26337|0.26337	-3.553000|-3.553000	0.00433|0.00433	-0.913000|-0.913000	0.03832|0.03832	0.491000|0.491000	0.48974|0.48974	ACG|TAC		0.567	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			G	60470943	C	G	60470943	4	3	368	1	0	0	0	0	0	1	0	0	9867	547	19	3	318	3	MS4A8B	11	60470943	Nonsense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08		60470943	74535573	19	20310											
OVCH1	341350	broad.mit.edu	37	12	29630329	29630329	+	Silent	SNP	T	T	C	rs373966834		TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr12:29630329T>C	ENST00000318184.5	-	11	1190	c.1191A>G	c.(1189-1191)gaA>gaG	p.E397E	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	397	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.E397E(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCCACTGTCTTCTGTATCAG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	12											146	141	142					12																	29630329		1943	4152	6095	29521596	SO:0001819	synonymous_variant	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1191A>G	12.37:g.29630329T>C			29521596		Silent	SNP	ENST00000318184.5	37																																																																																					0.438	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		C	29630329	T	C	29630329	2	2	368	1	0	0	0	0	0	0	0	1	11323	1606	56	4		4	OVCH1	12	29630329	Silent	SNP	T	TCGA-30-1862-01A-02W-0699-08		29630329	104221566	20	20311											
ALG10B	144245	broad.mit.edu	37	12	38710774	38710774	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr12:38710774T>A	ENST00000308742.4	+	1	395	c.79T>A	c.(79-81)Ttc>Atc	p.F27I	ALG10B_ENST00000551464.1_Missense_Mutation_p.F27I	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	27					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.F27I(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTCTCCGCCTTCAGCCGGGC	0.612											OREG0021733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											181	188	186					12																	38710774		2203	4300	6503	36997041	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.79T>A	12.37:g.38710774T>A	ENSP00000310120:p.Phe27Ile	880	36997041	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	t	5.903	0.350718	0.11182	.	.	ENSG00000175548	ENST00000308742;ENST00000551464	T;T	0.39592	1.69;1.07	3.64	3.64	0.41730	.	0.214454	0.41500	D	0.000865	T	0.11410	0.0278	N	0.00335	-1.625	0.32608	N	0.524993	B	0.06786	0.001	B	0.01281	0.0	T	0.09773	-1.0659	10	0.23891	T	0.37	.	8.957	0.35823	0.0:0.0:0.0:1.0	.	27	Q5I7T1	AG10B_HUMAN	I	27	ENSP00000310120:F27I;ENSP00000448819:F27I	ENSP00000310120:F27I	F	+	1	0	ALG10B	36997041	0.591000	0.26824	1.000000	0.80357	0.999000	0.98932	0.614000	0.24314	1.872000	0.54250	0.533000	0.62120	TTC		0.612	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		A	38710774	T	A	38710774	3	1	368	1	0	0	0	0	1	0	0	0	512	1609	56	5	81	5	ALG10B	12	38710774	Missense_Mutation	SNP	T	TCGA-30-1862-01A-02W-0699-08	9080445	38710774	95141121	21	20312											
MON2	23041	broad.mit.edu	37	12	62972241	62972241	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr12:62972241C>A	ENST00000393632.2	+	31	4922	c.4531C>A	c.(4531-4533)Ctc>Atc	p.L1511I	MON2_ENST00000393630.3_Missense_Mutation_p.L1512I|MON2_ENST00000546600.1_Missense_Mutation_p.L1511I|MON2_ENST00000393629.2_Missense_Mutation_p.L1505I|MON2_ENST00000280379.6_Missense_Mutation_p.L1512I|MON2_ENST00000552738.1_Missense_Mutation_p.L1482I	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1511					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L1511I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCCAGATAATCTCTCTATTCA	0.274																																																1	Substitution - Missense(1)	ovary(1)	12											24	24	24					12																	62972241		2200	4280	6480	61258508	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4531C>A	12.37:g.62972241C>A	ENSP00000377252:p.Leu1511Ile		61258508	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635552	0.67130	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.58210	0.36;0.36;0.35;0.35;0.36;0.36	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.31290	0.213;0.208;0.208;0.276;0.318	B;B;B;B;B	0.36030	0.107;0.216;0.153;0.163;0.216	T	0.46205	-0.9208	9	.	.	.	-6.8704	19.7297	0.96177	0.0:1.0:0.0:0.0	.	1505;1482;1511;380;1511	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	I	1511;1512;1512;1511;1482;1505	ENSP00000377252:L1511I;ENSP00000377250:L1512I;ENSP00000280379:L1512I;ENSP00000447407:L1511I;ENSP00000449215:L1482I;ENSP00000377249:L1505I	.	L	+	1	0	MON2	61258508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.687000	0.61708	2.658000	0.90341	0.650000	0.86243	CTC		0.274	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		A	62972241	C	A	62972241	3	1	368	1	0	0	0	0	1	0	0	0	9700	913	32	3	4653	3	MON2	12	62972241	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08	24261467	62972241	70879654	22	20313											
NUAK1	9891	broad.mit.edu	37	12	106461475	106461475	+	Missense_Mutation	SNP	C	C	T	rs145399889		TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr12:106461475C>T	ENST00000261402.2	-	7	2470	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	364					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.R364Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CGACCGCTGCCGCTCTAGCAT	0.547																																																1	Substitution - Missense(1)	ovary(1)	12						T	GLN/ARG	0,4406		0,0,2203	86	84	85		1091	4.8	1	12	dbSNP_134	85	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NUAK1	NM_014840.2	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	364/662	106461475	3,13003	2203	4300	6503	104985605	SO:0001583	missense	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1091G>A	12.37:g.106461475C>T	ENSP00000261402:p.Arg364Gln		104985605	A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	c	15.74	2.922628	0.52653	0.0	3.49E-4	ENSG00000074590	ENST00000261402;ENST00000553094	T;T	0.74421	-0.84;1.28	5.67	4.79	0.61399	Protein kinase-like domain (1);	0.108410	0.39687	N	0.001295	T	0.63838	0.2545	L	0.43152	1.355	0.39998	D	0.975131	P	0.36990	0.577	B	0.31614	0.133	T	0.67074	-0.5762	10	0.56958	D	0.05	.	10.9839	0.47510	0.0:0.8579:0.0:0.1421	.	364	O60285	NUAK1_HUMAN	Q	364;79	ENSP00000261402:R364Q;ENSP00000446873:R79Q	ENSP00000261402:R364Q	R	-	2	0	NUAK1	104985605	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.542000	0.45744	1.411000	0.46957	-0.215000	0.12644	CGG		0.547	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		T	106461475	C	T	106461475	3	4	368	1	0	0	0	0	1	0	0	0	10712	652	23	1	898	1	NUAK1	12	106461475	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08	43489234	106461475	27390420	23	20314											
ACACB	32	broad.mit.edu	37	12	109604778	109604778	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr12:109604778G>A	ENST00000338432.7	+	3	885	c.766G>A	c.(766-768)Ggg>Agg	p.G256R	ACACB_ENST00000377854.5_Missense_Mutation_p.G256R|ACACB_ENST00000377848.3_Missense_Mutation_p.G256R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	256					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.G256R(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACGCTTTGGGGGGGATCGGGT	0.612																																																1	Substitution - Missense(1)	ovary(1)	12											76	71	73					12																	109604778		2203	4300	6503	108089161	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.766G>A	12.37:g.109604778G>A	ENSP00000341044:p.Gly256Arg		108089161	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	35	5.417636	0.96092	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.74632	-0.86;-0.86;-0.86	5.55	5.55	0.83447	PreATP-grasp-like fold (1);	0.047809	0.85682	D	0.000000	D	0.90369	0.6986	H	0.94385	3.53	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.92699	0.6173	10	0.87932	D	0	.	19.1106	0.93315	0.0:0.0:1.0:0.0	.	256	O00763	ACACB_HUMAN	R	256	ENSP00000341044:G256R;ENSP00000367079:G256R;ENSP00000367085:G256R	ENSP00000341044:G256R	G	+	1	0	ACACB	108089161	1.000000	0.71417	0.837000	0.33122	0.958000	0.62258	9.767000	0.98960	2.596000	0.87737	0.591000	0.81541	GGG		0.612	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109604778	G	A	109604778	3	1	368	1	0	0	0	0	1	0	0	0	107	1232	43	2	772	2	ACACB	12	109604778	Missense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08	3143303	109604778	24247117	24	20315											
TPP2	7174	broad.mit.edu	37	13	103330652	103330652	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr13:103330652T>G	ENST00000376065.4	+	29	3772	c.3736T>G	c.(3736-3738)Tat>Gat	p.Y1246D	RP11-29B2.5_ENST00000602560.1_lincRNA|TPP2_ENST00000376052.3_Missense_Mutation_p.Y1259D|TPP2_ENST00000466153.1_3'UTR	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1246					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.Y1246D(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTCCCGATTATTGCGTATT	0.308																																																1	Substitution - Missense(1)	ovary(1)	13											96	94	95					13																	103330652		2203	4300	6503	102128653	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3736T>G	13.37:g.103330652T>G	ENSP00000365233:p.Tyr1246Asp		102128653	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.363355	0.61513	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.77	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.43923	1.385	0.58432	D	0.999997	D	0.64830	0.994	P	0.55161	0.77	T	0.64643	-0.6359	9	0.72032	D	0.01	.	12.5465	0.56203	0.1249:0.0:0.0:0.8751	.	1246	P29144	TPP2_HUMAN	D	1246;1259	.	ENSP00000365220:Y1259D	Y	+	1	0	TPP2	102128653	1.000000	0.71417	0.981000	0.43875	0.908000	0.53690	7.438000	0.80431	1.093000	0.41377	0.533000	0.62120	TAT		0.308	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			G	103330652	T	G	103330652	3	3	368	1	0	0	0	0	1	0	0	0	16412	1754	61	5	3850	5	TPP2	13	103330652	Missense_Mutation	SNP	T	TCGA-30-1862-01A-02W-0699-08		103330652	11839226	25	20316											
PRKD1	5587	broad.mit.edu	37	14	30100191	30100191	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr14:30100191C>T	ENST00000331968.5	-	10	1658	c.1429G>A	c.(1429-1431)Gta>Ata	p.V477I	PRKD1_ENST00000415220.2_Missense_Mutation_p.V485I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	477	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.V477I(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GAAGTTTTTACTGGTTCCAGA	0.328																																																1	Substitution - Missense(1)	ovary(1)	14											75	78	77					14																	30100191		2203	4300	6503	29169942	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1429G>A	14.37:g.30100191C>T	ENSP00000333568:p.Val477Ile		29169942	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541764	0.45280	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.22945	1.93;1.93;1.93	5.32	4.44	0.53790	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	N	0.12182	0.205	0.21762	N	0.999556	B	0.17038	0.02	B	0.16722	0.016	T	0.16958	-1.0385	10	0.44086	T	0.13	-1.5023	14.2479	0.65999	0.0:0.9278:0.0:0.0722	.	477	Q15139	KPCD1_HUMAN	I	477;485;58	ENSP00000333568:V477I;ENSP00000390535:V485I;ENSP00000447333:V58I	ENSP00000333568:V477I	V	-	1	0	PRKD1	29169942	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.697000	0.54764	1.383000	0.46405	0.655000	0.94253	GTA		0.328	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		T	30100191	C	T	30100191	3	4	368	1	0	0	0	0	1	0	0	0	12521	565	20	2	1345	2	PRKD1	14	30100191	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08		30100191	77249349	26	20317											
HSPA2	3306	broad.mit.edu	37	14	65008786	65008786	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr14:65008786G>A	ENST00000394709.1	+	2	1295	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.E407K			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	407					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)	p.E407K(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCTGGGCATCGAGACAGCTGG	0.607																																					Pancreas(136;1211 1835 24894 31984 38227)											1	Substitution - Missense(1)	ovary(1)	14											76	68	71					14																	65008786		2203	4300	6503	64078539	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1219G>A	14.37:g.65008786G>A	ENSP00000378199:p.Glu407Lys		64078539	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696546	0.68386	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01228	5.14;5.14	5.11	5.11	0.69529	.	0.000000	0.53938	U	0.000041	T	0.17450	0.0419	H	0.97291	3.975	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.31447	-0.9943	10	0.87932	D	0	-0.1546	18.6095	0.91279	0.0:0.0:1.0:0.0	.	407	P54652	HSP72_HUMAN	K	407;407;181	ENSP00000378199:E407K;ENSP00000247207:E407K	ENSP00000247207:E407K	E	+	1	0	HSPA2	64078539	1.000000	0.71417	0.998000	0.56505	0.476000	0.33039	9.865000	0.99609	2.395000	0.81488	0.558000	0.71614	GAG		0.607	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			A	65008786	G	A	65008786	3	1	368	1	0	0	0	0	1	0	0	0	7411	1059	37	1	1221	1	HSPA2	14	65008786	Missense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08	34908595	65008786	42340754	27	20318											
TMEM63C	57156	broad.mit.edu	37	14	77715782	77715782	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr14:77715782C>G	ENST00000298351.4	+	21	2163	c.2019C>G	c.(2017-2019)ttC>ttG	p.F673L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	673					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.F673L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGATGCTGTTCTTCTCCATCC	0.567																																																1	Substitution - Missense(1)	ovary(1)	14											117	118	118					14																	77715782		2123	4222	6345	76785535	SO:0001583	missense	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2019C>G	14.37:g.77715782C>G	ENSP00000298351:p.Phe673Leu		76785535	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203308	0.95033	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.24538	1.85	5.4	5.4	0.78164	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	M	0.67700	2.07	0.80722	D	1	P	0.50272	0.933	P	0.62014	0.897	T	0.32877	-0.9890	10	0.02654	T	1	-33.4729	19.1798	0.93619	0.0:1.0:0.0:0.0	.	673	Q9P1W3	TM63C_HUMAN	L	673;243	ENSP00000298351:F673L	ENSP00000298351:F673L	F	+	3	2	TMEM63C	76785535	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.749000	0.55150	2.537000	0.85549	0.561000	0.74099	TTC		0.567	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			G	77715782	C	G	77715782	3	3	368	1	0	0	0	0	1	0	0	0	16192	912	32	3	2093	3	TMEM63C	14	77715782	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08	12706996	77715782	29633758	28	20319											
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	T			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr17:7578176C>T	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		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"	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	17	GRCh37	CS071266	TP53	S							80	75	77					17																	7578176		2203	4300	6503	7518901	SO:0001630	splice_region_variant	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.672+1G>A	17.37:g.7578176C>T			7518901	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024476	0.75390	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	T	7578176	C	T	7578176	5	4	368	1	0	0	0	0	0	0	1	0	16381	521	18	2	621	2	TP53	17	7578176	Splice_Site	SNP	C	TCGA-30-1862-01A-02W-0699-08		7578176	73617034	29	20320											
TAOK1	57551	broad.mit.edu	37	17	27869612	27869612	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr17:27869612C>T	ENST00000261716.3	+	20	3097	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TAOK1_ENST00000536202.1_Missense_Mutation_p.R712C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	860				R -> C (in Ref. 1; AAG38502). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.R860C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GCAGAATGAGCGCACAGAACG	0.378																																																1	Substitution - Missense(1)	ovary(1)	17											118	112	114					17																	27869612		2203	4300	6503	24893738	SO:0001583	missense	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2578C>T	17.37:g.27869612C>T	ENSP00000261716:p.Arg860Cys		24893738	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755700	0.69648	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.68624	-0.34;-0.34	5.57	5.57	0.84162	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	M	0.87180	2.865	0.48395	D	0.999649	D;B	0.89917	1.0;0.196	D;B	0.71414	0.973;0.04	D	0.86921	0.2067	10	0.87932	D	0	.	19.5531	0.95330	0.0:1.0:0.0:0.0	.	712;860	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	C	860;712	ENSP00000261716:R860C;ENSP00000438819:R712C	ENSP00000261716:R860C	R	+	1	0	TAOK1	24893738	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.772000	0.85439	2.623000	0.88846	0.561000	0.74099	CGC		0.378	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		T	27869612	C	T	27869612	3	4	368	1	0	0	0	0	1	0	0	0	15547	768	27	1	2652	1	TAOK1	17	27869612	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08	20291436	27869612	53325598	30	20321											
NF1	4763	broad.mit.edu	37	17	29654605	29654605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr17:29654605C>A	ENST00000358273.4	+	38	5740	c.5357C>A	c.(5356-5358)tCg>tAg	p.S1786*	NF1_ENST00000356175.3_Nonsense_Mutation_p.S1765*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1786	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.S1786L(2)|p.S1786*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTATGCTTCGGAAATTGAA	0.458			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)|Substitution - Nonsense(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|ovary(1)	17	GRCh37	CS001442	NF1	S							88	86	86					17																	29654605		2203	4300	6503	26678731	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5357C>A	17.37:g.29654605C>A	ENSP00000351015:p.Ser1786*		26678731	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	43	10.372301	0.99393	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5155	0.95162	0.0:1.0:0.0:0.0	.	.	.	.	X	1786;1765;1431	.	ENSP00000348498:S1765X	S	+	2	0	NF1	26678731	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.456000	0.80751	2.846000	0.97976	0.644000	0.83932	TCG		0.458	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29654605	C	A	29654605	4	1	368	1	0	0	0	0	0	1	0	0	10356	893	31	3	5568	3	NF1	17	29654605	Nonsense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08	1784993	29654605	51540605	31	20322											
TOP2A	7153	broad.mit.edu	37	17	38546267	38546267	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr17:38546267C>A	ENST00000423485.1	-	34	4575	c.4417G>T	c.(4417-4419)Gat>Tat	p.D1473Y	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1473					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.D1473Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GAGTCAGAATCATCAGAAGTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	17											70	66	67					17																	38546267		1906	4123	6029	35799793	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4417G>T	17.37:g.38546267C>A	ENSP00000411532:p.Asp1473Tyr		35799793	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812792	0.70912	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.51071	0.72	5.67	4.69	0.59074	DTHCT (1);	0.411135	0.30620	N	0.009225	T	0.52500	0.1738	L	0.55481	1.735	0.40566	D	0.981252	P	0.42203	0.773	P	0.48524	0.58	T	0.58451	-0.7634	10	0.87932	D	0	.	12.0361	0.53425	0.0:0.9179:0.0:0.0821	.	1473	P11388	TOP2A_HUMAN	Y	1473;1553;1496;1510	ENSP00000411532:D1473Y	ENSP00000269577:D1553Y	D	-	1	0	TOP2A	35799793	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.671000	0.46842	1.497000	0.48584	0.591000	0.81541	GAT		0.428	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			A	38546267	C	A	38546267	3	1	368	1	0	0	0	0	1	0	0	0	16365	826	29	3	186	3	TOP2A	17	38546267	Missense_Mutation	SNP	C	TCGA-30-1862-01A-02W-0699-08	8891662	38546267	42648943	32	20323											
FAM108A1	81926	broad.mit.edu	37	19	1877545	1877545	+	Silent	SNP	G	G	A	rs201913444	byFrequency	TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr19:1877545G>A	ENST00000292577.7	-	4	1102	c.669C>T	c.(667-669)ccC>ccT	p.P223P	ABHD17A_ENST00000590661.1_Missense_Mutation_p.P192L|CTB-31O20.2_ENST00000565797.1_lincRNA|ABHD17A_ENST00000250974.9_Silent_p.P274P|CTB-31O20.9_ENST00000592720.1_lincRNA	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	223						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.P274P(1)									TCTTGGTGTCGGGGAAGGCGA	0.736																																																1	Substitution - coding silent(1)	ovary(1)	19											17	20	19					19																	1877545		2169	4237	6406	1828545	SO:0001819	synonymous_variant	81926			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.669C>T	19.37:g.1877545G>A			1828545	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																				0.736	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		A	1877545	G	A	1877545	2	1	368	1	0	0	0	0	0	0	0	1	5391	1103	39	1		1	FAM108A1	19	1877545	Silent	SNP	G	TCGA-30-1862-01A-02W-0699-08		1877545	57251438	33	20324											
CACNA1A	773	broad.mit.edu	37	19	13565965	13565965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr19:13565965G>A	ENST00000360228.5	-	2	354	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q119*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	119					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.Q119*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCAGATGCTGCTCCAGTGCG	0.433																																																1	Substitution - Nonsense(1)	ovary(1)	19											194	193	194					19																	13565965		2044	4219	6263	13426965	SO:0001587	stop_gained	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.355C>T	19.37:g.13565965G>A	ENSP00000353362:p.Gln119*		13426965	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	39	7.822589	0.98510	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4451	0.87575	0.0:0.0:1.0:0.0	.	.	.	.	X	119	.	ENSP00000317661:Q119X	Q	-	1	0	CACNA1A	13426965	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.695000	0.98691	2.489000	0.83994	0.655000	0.94253	CAG		0.433	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13565965	G	A	13565965	4	1	368	1	0	0	0	0	0	1	0	0	2538	1328	46	2	7463	2	CACNA1A	19	13565965	Nonsense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08	11688420	13565965	45563018	34	20325											
CDK5RAP1	51654	broad.mit.edu	37	20	31960505	31960505	+	Splice_Site	SNP	T	T	A			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr20:31960505T>A	ENST00000357886.4	-	11	1401		c.e11-2		CDK5RAP1_ENST00000477105.1_5'Flank|CDK5RAP1_ENST00000346416.2_Splice_Site|CDK5RAP1_ENST00000473997.1_Splice_Site|CDK5RAP1_ENST00000544843.1_Splice_Site|CDK5RAP1_ENST00000339269.5_Splice_Site			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1						brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTTGAATATCTGCAATAAAGA	0.328																																																1	Unknown(1)	ovary(1)	20											99	95	97					20																	31960505		2203	4300	6503	31424166	SO:0001630	splice_region_variant	51654			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1248-2A>T	20.37:g.31960505T>A			31424166	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Splice_Site	SNP	ENST00000357886.4	37		.	.	.	.	.	.	.	.	.	.	T	17.22	3.333398	0.60853	.	.	ENSG00000101391	ENST00000427097;ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3805	0.60764	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK5RAP1	31424166	1.000000	0.71417	0.960000	0.40013	0.762000	0.43233	6.608000	0.74168	2.112000	0.64535	0.451000	0.29950	.		0.328	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408	Intron	A	31960505	T	A	31960505	5	1	368	1	0	0	0	0	0	0	1	0	3145	1594	55	5	579	5	CDK5RAP1	20	31960505	Splice_Site	SNP	T	TCGA-30-1862-01A-02W-0699-08		31960505	31065015	35	20326											
SALL4	57167	broad.mit.edu	37	20	50408255	50408255	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr20:50408255G>C	ENST00000217086.4	-	2	878	c.767C>G	c.(766-768)aCt>aGt	p.T256S	SALL4_ENST00000395997.3_Missense_Mutation_p.T256S|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	256					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T256S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTCTTCAGAGTGTCGGCCCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	20											33	32	32					20																	50408255		2203	4300	6503	49841662	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.767C>G	20.37:g.50408255G>C	ENSP00000217086:p.Thr256Ser		49841662	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	4.556	0.103164	0.08731	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.68181	-0.31;-0.31	5.29	4.33	0.51752	.	0.834516	0.10311	N	0.690007	T	0.62648	0.2445	L	0.44542	1.39	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.53308	-0.8457	10	0.45353	T	0.12	-15.0846	15.6479	0.77068	0.0:0.1379:0.8621:0.0	.	256;256	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	S	256	ENSP00000217086:T256S;ENSP00000379319:T256S	ENSP00000217086:T256S	T	-	2	0	SALL4	49841662	0.999000	0.42202	0.116000	0.21606	0.029000	0.11900	9.272000	0.95707	1.213000	0.43380	-0.165000	0.13383	ACT		0.602	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			C	50408255	G	C	50408255	3	2	368	1	0	0	0	0	1	0	0	0	13816	1029	36	3	2406	3	SALL4	20	50408255	Missense_Mutation	SNP	G	TCGA-30-1862-01A-02W-0699-08	18447750	50408255	12617265	36	20327											
USP25	29761	broad.mit.edu	37	21	17199305	17199305	+	Silent	SNP	A	A	G			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr21:17199305A>G	ENST00000285679.6	+	14	1845	c.1476A>G	c.(1474-1476)gaA>gaG	p.E492E	USP25_ENST00000400183.2_Silent_p.E492E|USP25_ENST00000285681.2_Silent_p.E492E|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	492	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.E492E(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCACAACAGAACAACAGGGAG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	21											115	106	109					21																	17199305		2203	4300	6503	16121176	SO:0001819	synonymous_variant	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1476A>G	21.37:g.17199305A>G			16121176	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	9.753	1.168086	0.21621	.	.	ENSG00000155313	ENST00000453553	.	.	.	4.5	-1.72	0.08107	.	.	.	.	.	T	0.51398	0.1672	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44421	-0.9329	4	.	.	.	.	7.0616	0.25129	0.3612:0.1535:0.4853:0.0	.	.	.	.	S	21	.	.	N	+	2	0	USP25	16121176	0.964000	0.33143	0.945000	0.38365	0.940000	0.58332	0.071000	0.14594	-0.190000	0.10465	0.455000	0.32223	AAC		0.413	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			G	17199305	A	G	17199305	2	3	368	1	0	0	0	0	0	0	0	1	17056	40	2	4		4	USP25	21	17199305	Silent	SNP	A	TCGA-30-1862-01A-02W-0699-08		17199305	30930590	37	20328											
GABPA	2551	broad.mit.edu	37	21	27121366	27121366	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1862-01A-02W-0699-08	TCGA-30-1862-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	f2dfa869-39e1-4e54-8adf-c2b5428753bb	02e93152-8b3e-45a1-b1a7-ae8ab12d105d	g.chr21:27121366T>C	ENST00000354828.3	+	4	769	c.242T>C	c.(241-243)tTa>tCa	p.L81S	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.L81S	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	81					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|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 positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.L81S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAACGAAGTTTATTTGACCAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	21											84	80	81					21																	27121366		2203	4296	6499	26043237	SO:0001583	missense	2551				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"human nuclear respiratory factor-2 subunit alpha", "nuclear respiratory factor 2 alpha subunit"	600609	"GA-binding protein transcription factor, alpha subunit (60kD)"			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.242T>C	21.37:g.27121366T>C	ENSP00000346886:p.Leu81Ser		26043237	Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085342	0.76642	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.35605	1.3;1.3	4.73	4.73	0.59995	GA-binding protein alpha subunit, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.59715	0.2214	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63866	-0.6540	10	0.59425	D	0.04	.	14.3334	0.66572	0.0:0.0:0.0:1.0	.	81	Q06546	GABPA_HUMAN	S	81	ENSP00000346886:L81S;ENSP00000382948:L81S	ENSP00000346886:L81S	L	+	2	0	GABPA	26043237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.120000	0.77153	2.107000	0.64212	0.445000	0.29226	TTA		0.323	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		C	27121366	T	C	27121366	3	2	368	1	0	0	0	0	1	0	0	0	6157	1764	61	4	252	4	GABPA	21	27121366	Missense_Mutation	SNP	T	TCGA-30-1862-01A-02W-0699-08	9922061	27121366	21008529	38	20329											
SMAP2	64744	broad.mit.edu	37	1	40878768	40878768	+	Silent	SNP	G	G	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr1:40878768G>A	ENST00000539317.1	+	5	436	c.243G>A	c.(241-243)gtG>gtA	p.V81V		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	161	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V161V(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TTGAGAAGGTGAAAATGGTAA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	1											87	85	86					1																	40878768		2203	4300	6503	40651355	SO:0001819	synonymous_variant	64744			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"ADP-ribosylation factor GTPase activating proteins"	25082	protein-coding gene	gene with protein product			"stromal membrane-associated protein 1-like", "stromal membrane-associated GTPase-activating protein 2"	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.243G>A	1.37:g.40878768G>A			40651355	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	ENST00000539317.1	37	CCDS55593.1																																																																																				0.393	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		A	40878768	G	A	40878768	2	1	369	1	0	0	0	0	0	0	0	1	14770	1277	45	2		2	SMAP2	1	40878768	Silent	SNP	G	TCGA-30-1891-01A-01W-0699-08		40878768	208371853	1	20330											
KLF17	128209	broad.mit.edu	37	1	44595154	44595154	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr1:44595154C>A	ENST00000372299.3	+	2	269	c.211C>A	c.(211-213)Cct>Act	p.P71T	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	71					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P71T(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GCTGGGGTCCCCTTTGGTGTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											69	64	66					1																	44595154		2203	4300	6503	44367741	SO:0001583	missense	128209			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.211C>A	1.37:g.44595154C>A	ENSP00000361373:p.Pro71Thr		44367741	Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	CCDS508.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441683	0.43326	.	.	ENSG00000171872	ENST00000372299	T	0.08720	3.06	4.58	0.65	0.17812	.	0.514439	0.17000	N	0.190947	T	0.05868	0.0153	L	0.29908	0.895	0.09310	N	1	P	0.46912	0.886	B	0.42771	0.397	T	0.39583	-0.9607	10	0.19147	T	0.46	.	7.1348	0.25523	0.0:0.6469:0.0:0.3531	.	71	Q5JT82	KLF17_HUMAN	T	71	ENSP00000361373:P71T	ENSP00000361373:P71T	P	+	1	0	KLF17	44367741	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.101000	0.10973	0.133000	0.18654	0.650000	0.86243	CCT		0.567	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		A	44595154	C	A	44595154	3	1	369	1	0	0	0	0	1	0	0	0	8345	623	22	3	217	3	KLF17	1	44595154	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	3716386	44595154	204655467	2	20331											
BCAN	63827	broad.mit.edu	37	1	156621440	156621440	+	Missense_Mutation	SNP	C	C	G	rs564111183		TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr1:156621440C>G	ENST00000329117.5	+	7	1592	c.1256C>G	c.(1255-1257)tCc>tGc	p.S419C	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.S419C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	419	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.S419C(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTGGAAGCTCCACTCCAGAA	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											87	87	87					1																	156621440		2203	4300	6503	154888064	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1256C>G	1.37:g.156621440C>G	ENSP00000331210:p.Ser419Cys		154888064	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875448	0.72180	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.16324	2.35;3.04	4.84	4.84	0.62591	.	0.129993	0.33217	N	0.005147	T	0.14227	0.0344	L	0.32530	0.975	0.35026	D	0.758351	D;D	0.58970	0.979;0.984	P;P	0.53360	0.514;0.724	T	0.01276	-1.1398	10	0.52906	T	0.07	-24.575	14.7943	0.69865	0.0:1.0:0.0:0.0	.	419;419	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	C	358;419;419	ENSP00000331210:S419C;ENSP00000354925:S419C	ENSP00000255029:S358C	S	+	2	0	BCAN	154888064	0.936000	0.31750	1.000000	0.80357	0.982000	0.71751	2.121000	0.41977	2.509000	0.84616	0.655000	0.94253	TCC		0.567	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		G	156621440	C	G	156621440	3	3	369	1	0	0	0	0	1	0	0	0	1345	855	30	3	1278	3	BCAN	1	156621440	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	112026286	156621440	92629181	3	20332											
DUSP27	92235	broad.mit.edu	37	1	167096825	167096825	+	Silent	SNP	C	C	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr1:167096825C>A	ENST00000361200.2	+	6	2623	c.2457C>A	c.(2455-2457)acC>acA	p.T819T	DUSP27_ENST00000443333.1_Silent_p.T819T|DUSP27_ENST00000271385.5_Silent_p.T819T|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	819					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T819T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAGGGGGACCAGCAAGCCCA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	1											88	81	84					1																	167096825		2203	4300	6503	165363449	SO:0001819	synonymous_variant	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2457C>A	1.37:g.167096825C>A			165363449	A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.547	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		A	167096825	C	A	167096825	2	1	369	1	0	0	0	0	0	0	0	1	4824	581	21	3		3	DUSP27	1	167096825	Silent	SNP	C	TCGA-30-1891-01A-01W-0699-08	10475385	167096825	82153796	4	20333											
MYOC	4653	broad.mit.edu	37	1	171605462	171605462	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr1:171605462C>A	ENST00000037502.6	-	3	1189	c.1118G>T	c.(1117-1119)tGg>tTg	p.W373L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	373	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.W373L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTAGCCACCCCAAGAATACGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											90	87	88					1																	171605462		2203	4300	6503	169872085	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1118G>T	1.37:g.171605462C>A	ENSP00000037502:p.Trp373Leu		169872085	B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220746	0.79464	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	D	0.88509	-2.39	5.46	5.46	0.80206	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93727	0.7038	10	0.87932	D	0	.	18.2451	0.89982	0.0:1.0:0.0:0.0	.	315;373	B4DV44;Q99972	.;MYOC_HUMAN	L	373;326;306	ENSP00000037502:W373L	ENSP00000037502:W373L	W	-	2	0	MYOC	169872085	1.000000	0.71417	0.997000	0.53966	0.553000	0.35397	7.734000	0.84928	2.719000	0.93026	0.555000	0.69702	TGG		0.522	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		A	171605462	C	A	171605462	3	1	369	1	0	0	0	0	1	0	0	0	10086	595	21	3	400	3	MYOC	1	171605462	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	4508637	171605462	77645159	5	20334											
IL24	11009	broad.mit.edu	37	1	207075388	207075388	+	Missense_Mutation	SNP	T	T	A	rs79685336		TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr1:207075388T>A	ENST00000294984.2	+	6	782	c.508T>A	c.(508-510)Ttt>Att	p.F170I	IL24_ENST00000391929.3_Missense_Mutation_p.F171I|IL24_ENST00000367093.3_Missense_Mutation_p.F118I|FAIM3_ENST00000528654.1_5'Flank|IL24_ENST00000491169.1_3'UTR	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	170					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)		p.F170I(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					ACACAGGCGGTTTCTGCTATT	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											99	98	98					1																	207075388		2203	4300	6503	205142011	SO:0001583	missense	11009			U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"Interleukins and interleukin receptors"	11346	protein-coding gene	gene with protein product	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.508T>A	1.37:g.207075388T>A	ENSP00000294984:p.Phe170Ile		205142011	Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222754	0.58668	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	T;T;T	0.16457	2.34;2.34;2.34	4.86	4.86	0.63082	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.236326	0.36628	N	0.002497	T	0.38188	0.1031	.	.	.	0.41420	D	0.987791	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.87578	0.998;0.96;0.96	T	0.13255	-1.0516	9	0.44086	T	0.13	.	10.8091	0.46535	0.0:0.0:0.0:1.0	.	118;171;170	Q2YHE5;Q53XZ7;Q13007	.;.;IL24_HUMAN	I	171;170;118	ENSP00000375795:F171I;ENSP00000294984:F170I;ENSP00000356060:F118I	ENSP00000294984:F170I	F	+	1	0	IL24	205142011	0.996000	0.38824	0.734000	0.30879	0.154000	0.21943	3.218000	0.51192	2.054000	0.61138	0.533000	0.62120	TTT		0.468	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		A	207075388	T	A	207075388	3	1	369	1	0	0	0	0	1	0	0	0	7677	1725	60	5	529	5	IL24	1	207075388	Missense_Mutation	SNP	T	TCGA-30-1891-01A-01W-0699-08	35469926	207075388	42175233	6	20335											
YOD1	55432	broad.mit.edu	37	1	207222580	207222580	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr1:207222580G>T	ENST00000315927.4	-	2	878	c.832C>A	c.(832-834)Cca>Aca	p.P278T	PFKFB2_ENST00000411990.2_5'Flank|YOD1_ENST00000391927.1_Missense_Mutation_p.P234T|YOD1_ENST00000367084.1_Missense_Mutation_p.P234T	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	278					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.P278T(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GGTGTATCTGGATCAGGGAAG	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											194	189	191					1																	207222580		2203	4300	6503	205289203	SO:0001583	missense	55432				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.832C>A	1.37:g.207222580G>T	ENSP00000326813:p.Pro278Thr		205289203	B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080350	0.36662	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	.	.	.	6.17	6.17	0.99709	.	0.201722	0.52532	D	0.000077	T	0.47637	0.1456	L	0.42245	1.32	0.44627	D	0.997607	P;P	0.45126	0.617;0.851	B;B	0.41946	0.242;0.371	T	0.48175	-0.9058	9	0.54805	T	0.06	-23.233	12.9895	0.58610	0.0801:0.0:0.9199:0.0	.	234;278	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	T	234;278;234	.	ENSP00000326813:P278T	P	-	1	0	YOD1	205289203	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.324000	0.65863	2.941000	0.99782	0.655000	0.94253	CCA		0.408	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		T	207222580	G	T	207222580	3	4	369	1	0	0	0	0	1	0	0	0	17488	1174	41	3	218	3	YOD1	1	207222580	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	147192	207222580	42028041	7	20336											
YOD1	55432	broad.mit.edu	37	1	207224218	207224218	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr1:207224218G>C	ENST00000315927.4	-	1	204	c.158C>G	c.(157-159)gCc>gGc	p.A53G	PFKFB2_ENST00000367080.3_5'Flank|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000367079.2_5'Flank|YOD1_ENST00000391927.1_Intron|YOD1_ENST00000367084.1_Intron	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	53	UBX-like.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.A53G(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GCCGTCCTTGGCCTTGCAGCG	0.716																																																1	Substitution - Missense(1)	ovary(1)	1											10	13	12					1																	207224218		2186	4272	6458	205290841	SO:0001583	missense	55432				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.158C>G	1.37:g.207224218G>C	ENSP00000326813:p.Ala53Gly		205290841	B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631553	0.87660	.	.	ENSG00000180667	ENST00000315927	.	.	.	5.56	5.56	0.83823	.	0.105646	0.64402	D	0.000003	T	0.39279	0.1072	N	0.26042	0.785	0.80722	D	1	P	0.49090	0.919	B	0.37015	0.239	T	0.25641	-1.0126	8	.	.	.	-11.6919	18.0826	0.89445	0.0:0.0:1.0:0.0	.	53	Q5VVQ6	OTU1_HUMAN	G	53	.	.	A	-	2	0	YOD1	205290841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.554000	0.73923	2.600000	0.87896	0.563000	0.77884	GCC		0.716	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		C	207224218	G	C	207224218	3	2	369	1	0	0	0	0	1	0	0	0	17488	1203	42	3	896	3	YOD1	1	207224218	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	1638	207224218	42026403	8	20337											
RYR2	6262	broad.mit.edu	37	1	237880587	237880587	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr1:237880587G>C	ENST00000366574.2	+	72	10730	c.10413G>C	c.(10411-10413)aaG>aaC	p.K3471N	RYR2_ENST00000360064.6_Missense_Mutation_p.K3469N|RYR2_ENST00000542537.1_Missense_Mutation_p.K3455N|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3471					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K3469N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCTCTGAAGCGGTTACTGC	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											85	89	87					1																	237880587		1911	4115	6026	235947210	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10413G>C	1.37:g.237880587G>C	ENSP00000355533:p.Lys3471Asn		235947210	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109218	0.37242	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.98666	-0.23;-5.06;-0.23	5.34	3.47	0.39725	.	0.000000	0.64402	D	0.000006	D	0.98343	0.9450	M	0.88241	2.94	0.80722	D	1	P	0.49696	0.927	P	0.48488	0.579	D	0.97496	1.0057	10	0.87932	D	0	-16.0255	8.3499	0.32297	0.2982:0.0:0.7018:0.0	.	3471	Q92736	RYR2_HUMAN	N	3471;3469;3455;426	ENSP00000355533:K3471N;ENSP00000353174:K3469N;ENSP00000443798:K3455N	ENSP00000353174:K3469N	K	+	3	2	RYR2	235947210	1.000000	0.71417	0.989000	0.46669	0.068000	0.16541	2.000000	0.40816	0.749000	0.32854	0.655000	0.94253	AAG		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237880587	G	C	237880587	3	2	369	1	0	0	0	0	1	0	0	0	13772	962	34	3	10699	3	RYR2	1	237880587	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	30656369	237880587	11370034	9	20338											
MAPRE3	22924	broad.mit.edu	37	2	27248876	27248876	+	Silent	SNP	C	C	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr2:27248876C>T	ENST00000233121.2	+	6	951	c.753C>T	c.(751-753)atC>atT	p.I251I	MAPRE3_ENST00000405074.3_Silent_p.I236I|MAPRE3_ENST00000402218.1_Silent_p.I236I			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	251	APC-binding.|DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.				mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.I251I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCAGGCATCATTGGCATCC	0.557																																																1	Substitution - coding silent(1)	ovary(1)	2											96	87	90					2																	27248876		2203	4300	6503	27102380	SO:0001819	synonymous_variant	22924			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.753C>T	2.37:g.27248876C>T			27102380	B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Silent	SNP	ENST00000233121.2	37	CCDS1731.1																																																																																				0.557	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		T	27248876	C	T	27248876	2	4	369	1	0	0	0	0	0	0	0	1	9296	816	29	2		2	MAPRE3	2	27248876	Silent	SNP	C	TCGA-30-1891-01A-01W-0699-08		27248876	215950497	10	20339											
FAM161A	84140	broad.mit.edu	37	2	62067491	62067491	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr2:62067491A>C	ENST00000405894.3	-	3	749	c.648T>G	c.(646-648)gaT>gaG	p.D216E	FAM161A_ENST00000404929.1_Missense_Mutation_p.D216E	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	216					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.D107E(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGAAGCCAGTATCTTTACAGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											187	167	173					2																	62067491		1870	4095	5965	61920995	SO:0001583	missense	84140				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.648T>G	2.37:g.62067491A>C	ENSP00000385893:p.Asp216Glu		61920995	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	A	3.047	-0.196265	0.06259	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.21734	2.8;1.99	5.55	1.93	0.25924	.	0.702099	0.14746	N	0.300891	T	0.17831	0.0428	L	0.39633	1.23	0.09310	N	1	B;D	0.57257	0.085;0.979	B;P	0.53224	0.013;0.721	T	0.09840	-1.0656	10	0.06625	T	0.88	-7.2789	1.7519	0.02973	0.5244:0.1274:0.2248:0.1234	.	216;216	Q3B820;Q3B820-3	F161A_HUMAN;.	E	216	ENSP00000385158:D216E;ENSP00000385893:D216E	ENSP00000385158:D216E	D	-	3	2	FAM161A	61920995	0.002000	0.14202	0.000000	0.03702	0.095000	0.18619	1.093000	0.30939	0.092000	0.17331	0.533000	0.62120	GAT		0.393	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		C	62067491	A	C	62067491	3	2	369	1	0	0	0	0	1	0	0	0	5472	446	16	5	1350	5	FAM161A	2	62067491	Missense_Mutation	SNP	A	TCGA-30-1891-01A-01W-0699-08	34818615	62067491	181131882	11	20340											
ANKRD57	65124	broad.mit.edu	37	2	110373153	110373153	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr2:110373153G>A	ENST00000356454.3	+	1	1243	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	363								p.A363T(1)									GCTGGTGGGGGCCTACGACGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	2											45	52	49					2																	110373153		2203	4300	6503	109730442	SO:0001583	missense	65124			AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1087G>A	2.37:g.110373153G>A	ENSP00000365830:p.Ala363Thr		109730442	Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355621	0.82243	.	.	ENSG00000198142	ENST00000356454	T	0.64085	-0.08	4.42	3.55	0.40652	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	T	0.53238	0.1784	L	0.31371	0.925	0.46260	D	0.998955	P	0.41624	0.757	P	0.45794	0.493	T	0.46707	-0.9172	10	0.27082	T	0.32	-19.0736	11.4114	0.49927	0.0877:0.0:0.9123:0.0	.	363	Q53LP3	ANR57_HUMAN	T	363	ENSP00000365830:A363T	ENSP00000365830:A363T	A	+	1	0	ANKRD57	109730442	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.409000	0.80053	1.088000	0.41272	0.650000	0.86243	GCC		0.637	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		A	110373153	G	A	110373153	3	1	369	1	0	0	0	0	1	0	0	0	683	1203	42	2	1089	2	ANKRD57	2	110373153	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	48305662	110373153	132826220	12	20341											
TANC1	85461	broad.mit.edu	37	2	160086600	160086600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr2:160086600C>T	ENST00000263635.6	+	27	4900	c.4663C>T	c.(4663-4665)Cag>Tag	p.Q1555*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.Q1449*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1555					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.Q1555*(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TATGAAAGTTCAGATCTCTTC	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	2											49	54	52					2																	160086600		1934	4139	6073	159794846	SO:0001587	stop_gained	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4663C>T	2.37:g.160086600C>T	ENSP00000263635:p.Gln1555*		159794846	C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	41	8.844070	0.98974	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.07	5.18	0.71444	.	0.468598	0.24891	N	0.034778	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8315	0.35087	0.1626:0.7639:0.0:0.0736	.	.	.	.	X	1449;1555	.	.	Q	+	1	0	TANC1	159794846	0.033000	0.19621	0.003000	0.11579	0.103000	0.19146	2.903000	0.48711	1.505000	0.48720	0.655000	0.94253	CAG		0.567	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			T	160086600	C	T	160086600	4	4	369	1	0	0	0	0	0	1	0	0	15544	827	29	2	4766	2	TANC1	2	160086600	Nonsense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	49713447	160086600	83112773	13	20342											
TTN	7273	broad.mit.edu	37	2	179425591	179425591	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr2:179425591C>A	ENST00000591111.1	-	276	80569	c.80345G>T	c.(80344-80346)cGa>cTa	p.R26782L	TTN_ENST00000342175.6_Missense_Mutation_p.R19550L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25855L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19483L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19358L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R28423L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26782	Ig-like 128.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R19550L(1)|p.R25853L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAGTGTCTCGTCTTATACA	0.428																																																2	Substitution - Missense(2)	ovary(2)	2											115	99	104					2																	179425591		1931	4144	6075	179133837	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80345G>T	2.37:g.179425591C>A	ENSP00000465570:p.Arg26782Leu		179133837	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.50	2.255590	0.39896	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.97	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45397	0.1340	N	0.26130	0.795	0.42123	D	0.991433	P;P;P;P	0.52842	0.956;0.956;0.956;0.922	P;P;P;P	0.53912	0.737;0.737;0.737;0.655	T	0.50558	-0.8814	9	0.87932	D	0	.	15.5833	0.76462	0.0:0.9335:0.0:0.0665	.	19358;19483;19550;26782	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	25855;19358;19550;19483;19356	ENSP00000343764:R25855L;ENSP00000434586:R19358L;ENSP00000340554:R19550L;ENSP00000352154:R19483L	ENSP00000340554:R19550L	R	-	2	0	TTN	179133837	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	3.335000	0.52105	1.508000	0.48769	0.655000	0.94253	CGA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179425591	C	A	179425591	3	1	369	1	0	0	0	0	1	0	0	0	16735	884	31	3	22859	3	TTN	2	179425591	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	19338991	179425591	63773782	14	20343											
SH3BP5	9467	broad.mit.edu	37	3	15298555	15298555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr3:15298555G>A	ENST00000383791.3	-	8	1175	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000426925.1_Nonsense_Mutation_p.Q162*|SH3BP5_ENST00000408919.3_Nonsense_Mutation_p.Q162*|SH3BP5_ENST00000253688.5_Nonsense_Mutation_p.Q162*|SH3BP5-AS1_ENST00000413977.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	319	Ser-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)	p.Q319*(1)		NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GACACGGACTGGGTTTCCGAG	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	3											100	87	91					3																	15298555		2203	4300	6503	15273559	SO:0001587	stop_gained	9467			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"SH3 binding protein"	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.955C>T	3.37:g.15298555G>A	ENSP00000373301:p.Gln319*		15273559	B3KQW6|Q5JWV9	Nonsense_Mutation	SNP	ENST00000383791.3	37	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	G	42	9.198016	0.99098	.	.	ENSG00000131370	ENST00000383791;ENST00000426925;ENST00000253688;ENST00000408919	.	.	.	5.65	5.65	0.86999	.	0.119337	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-22.5748	19.376	0.94508	0.0:0.0:1.0:0.0	.	.	.	.	X	319;162;162;162	.	ENSP00000253688:Q162X	Q	-	1	0	SH3BP5	15273559	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.530000	0.81962	2.683000	0.91414	0.456000	0.33151	CAG		0.552	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		A	15298555	G	A	15298555	4	1	369	1	0	0	0	0	0	1	0	0	14250	1357	47	2	420	2	SH3BP5	3	15298555	Nonsense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08		15298555	182723875	15	20344											
ANKRD28	23243	broad.mit.edu	37	3	15749562	15749562	+	Silent	SNP	C	C	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr3:15749562C>T	ENST00000399451.2	-	14	1693	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.L475L	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	442						nucleus (GO:0005634)		p.L475L(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CAGCGTAGTGCAGTGGAGATC	0.453																																																1	Substitution - coding silent(1)	ovary(1)	3											74	74	74					3																	15749562		2031	4196	6227	15724566	SO:0001819	synonymous_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1326G>A	3.37:g.15749562C>T			15724566	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	37	CCDS46769.1																																																																																				0.453	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		T	15749562	C	T	15749562	2	4	369	1	0	0	0	0	0	0	0	1	656	697	25	2		2	ANKRD28	3	15749562	Silent	SNP	C	TCGA-30-1891-01A-01W-0699-08	451007	15749562	182272868	16	20345											
SCN5A	6331	broad.mit.edu	37	3	38592052	38592052	+	Silent	SNP	G	G	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr3:38592052G>A	ENST00000333535.4	-	28	5960	c.5811C>T	c.(5809-5811)tcC>tcT	p.S1937S	SCN5A_ENST00000451551.2_Silent_p.S1883S|SCN5A_ENST00000455624.2_Silent_p.S1904S|SCN5A_ENST00000443581.1_Silent_p.S1936S|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Silent_p.S1883S|SCN5A_ENST00000449557.2_Silent_p.S1883S|SCN5A_ENST00000425664.1_Silent_p.S1919S|SCN5A_ENST00000423572.2_Silent_p.S1936S|SCN5A_ENST00000413689.1_Silent_p.S1937S|SCN5A_ENST00000414099.2_Silent_p.S1919S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1937					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.S1937S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCCTCTTCGGAGAGGCCGC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	3											41	49	46					3																	38592052		2053	4188	6241	38567056	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5811C>T	3.37:g.38592052G>A			38567056	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.627	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38592052	G	A	38592052	2	1	369	1	0	0	0	0	0	0	0	1	13925	1103	39	1		1	SCN5A	3	38592052	Silent	SNP	G	TCGA-30-1891-01A-01W-0699-08	22842490	38592052	159430378	17	20346											
TM4SF4	7104	broad.mit.edu	37	3	149216648	149216648	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr3:149216648G>T	ENST00000305354.4	+	4	1445	c.541G>T	c.(541-543)Ggc>Tgc	p.G181C		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	181					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.G181C(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGTGGTCAATGGCCTCCTGGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	3											102	107	105					3																	149216648		1951	4149	6100	150699338	SO:0001583	missense	7104				CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"transmembrane 4 superfamily member 4"			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.541G>T	3.37:g.149216648G>T	ENSP00000305852:p.Gly181Cys		150699338	B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830808	0.71258	.	.	ENSG00000169903	ENST00000305354	T	0.35789	1.29	5.9	4.85	0.62838	.	0.045012	0.85682	D	0.000000	T	0.67896	0.2942	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75351	-0.3348	10	0.87932	D	0	-0.0421	15.9431	0.79773	0.0745:0.0:0.9255:0.0	.	181	P48230	T4S4_HUMAN	C	181	ENSP00000305852:G181C	ENSP00000305852:G181C	G	+	1	0	TM4SF4	150699338	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	6.396000	0.73234	2.788000	0.95919	0.650000	0.86243	GGC		0.567	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			T	149216648	G	T	149216648	3	4	369	1	0	0	0	0	1	0	0	0	15970	1348	47	3	555	3	TM4SF4	3	149216648	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	110624596	149216648	48805782	18	20347											
CLDN11	5010	broad.mit.edu	37	3	170150371	170150371	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr3:170150371A>G	ENST00000064724.3	+	3	653	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	151					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.I151V(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGAGACCACCATCGTGAGCTT	0.617																																																1	Substitution - Missense(1)	ovary(1)	3											176	161	166					3																	170150371		2203	4300	6503	171633065	SO:0001583	missense	5010			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"Claudins"	8514	protein-coding gene	gene with protein product		601326	"oligodendrocyte transmembrane protein"	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.451A>G	3.37:g.170150371A>G	ENSP00000064724:p.Ile151Val		171633065	B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	ENST00000064724.3	37	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.685281	0.47991	.	.	ENSG00000013297	ENST00000064724	D	0.88431	-2.38	5.83	4.67	0.58626	.	0.109044	0.64402	D	0.000008	T	0.80974	0.4727	N	0.17248	0.465	0.80722	D	1	B	0.26445	0.149	B	0.29524	0.103	T	0.76258	-0.3025	10	0.45353	T	0.12	.	11.6789	0.51446	0.9311:0.0:0.0689:0.0	.	151	O75508	CLD11_HUMAN	V	151	ENSP00000064724:I151V	ENSP00000064724:I151V	I	+	1	0	CLDN11	171633065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.045000	0.57368	1.037000	0.40024	0.533000	0.62120	ATC		0.617	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		G	170150371	A	G	170150371	3	3	369	1	0	0	0	0	1	0	0	0	3473	217	8	4	461	4	CLDN11	3	170150371	Missense_Mutation	SNP	A	TCGA-30-1891-01A-01W-0699-08	20933723	170150371	27872059	19	20348											
TRA2B	6434	broad.mit.edu	37	3	185639898	185639898	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr3:185639898T>C	ENST00000453386.2	-	5	814	c.539A>G	c.(538-540)aAt>aGt	p.N180S	TRA2B_ENST00000382191.4_Missense_Mutation_p.N80S	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	180	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N180S(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CTCCATTCCATTGGCACGTTC	0.418																																																1	Substitution - Missense(1)	ovary(1)	3											134	125	128					3																	185639898		2203	4300	6503	187122592	SO:0001583	missense	6434			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.539A>G	3.37:g.185639898T>C	ENSP00000416959:p.Asn180Ser		187122592	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	CCDS33905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.56|12.56	1.973228|1.973228	0.34848|0.34848	.|.	.|.	ENSG00000136527|ENSG00000136527	ENST00000259043|ENST00000453386;ENST00000382191	.|T;T	.|0.79653	.|0.88;-1.29	6.17|6.17	5.02|5.02	0.67125|0.67125	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82508|0.82508	0.5052|0.5052	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|B;B	.|0.29188	.|0.236;0.236	.|B;B	.|0.40982	.|0.345;0.345	T|T	0.79329|0.79329	-0.1848|-0.1848	5|10	.|0.39692	.|T	.|0.17	-10.6602|-10.6602	11.3322|11.3322	0.49484|0.49484	0.0:0.0713:0.0:0.9287|0.0:0.0713:0.0:0.9287	.|.	.|180;180	.|B2RDQ3;P62995	.|.;TRA2B_HUMAN	V|S	39|180;80	.|ENSP00000416959:N180S;ENSP00000371626:N80S	.|ENSP00000371626:N80S	M|N	-|-	1|2	0|0	TRA2B|TRA2B	187122592|187122592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.997000|7.997000	0.88414|0.88414	1.160000|1.160000	0.42584|0.42584	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.418	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		C	185639898	T	C	185639898	3	2	369	1	0	0	0	0	1	0	0	0	16434	1493	52	4	347	4	TRA2B	3	185639898	Missense_Mutation	SNP	T	TCGA-30-1891-01A-01W-0699-08	15489527	185639898	12382532	20	20349											
DDX60L	91351	broad.mit.edu	37	4	169374281	169374307	+	In_Frame_Del	DEL	TAAGAAAGAATCACTGTTCCTAATCCA	TAAGAAAGAATCACTGTTCCTAATCCA	-			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	TAAGAAAGAATCACTGTTCCTAATCCA	TAAGAAAGAATCACTGTTCCTAATCCA					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr4:169374281_169374307delTAAGAAAGAATCACTGTTCCTAATCCA	ENST00000511577.1	-	8	1211_1237	c.964_990delTGGATTAGGAACAGTGATTCTTTCTTA	c.(964-990)tggattaggaacagtgattctttcttadel	p.WIRNSDSFL322del	DDX60L_ENST00000505890.1_In_Frame_Del_p.WIRNSDSFL322del|DDX60L_ENST00000260184.7_In_Frame_Del_p.WIRNSDSFL322del			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	322							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.W322_L330delWIRNSDSFL(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTACCATTTTTAAGAAAGAATCACTGTTCCTAATCCAAGAGCATGTG	0.383																																																1	Deletion - In frame(1)	ovary(1)	4																																								169610882	SO:0001651	inframe_deletion	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.964_990delTGGATTAGGAACAGTGATTCTTTCTTA	4.37:g.169374281_169374307delTAAGAAAGAATCACTGTTCCTAATCCA	ENSP00000422423:p.Trp322_Leu330del		169610856	Q96ND6	In_Frame_Del	DEL	ENST00000511577.1	37																																																																																					0.383	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		-	169374307	TAAGAAAGAATCACTGTTCCTAATCCA	-	169374281	7	5	369	1	0	1	0	1	0	0	0	0	4379	1751	61	0	4254	0	DDX60L	4	169374281	In_Frame_Del	DEL	TAAGAAAGAATCACTGTTCCTAATCCA	TCGA-30-1891-01A-01W-0699-08		169374281	21779995	21	20350											
GRK6	2870	broad.mit.edu	37	5	176857884	176857884	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr5:176857884A>T	ENST00000355472.5	+	2	232	c.64A>T	c.(64-66)Aat>Tat	p.N22Y	GRK6_ENST00000528793.1_Missense_Mutation_p.N22Y|GRK6_ENST00000355958.5_Missense_Mutation_p.N22Y|GRK6_ENST00000507633.1_Missense_Mutation_p.N22Y|GRK6_ENST00000393576.3_Missense_Mutation_p.N22Y	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	22	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.N22Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TGGCGGTGGAAATCGCAAAGG	0.617																																																1	Substitution - Missense(1)	ovary(1)	5											72	63	66					5																	176857884		2203	4300	6503	176790490	SO:0001583	missense	2870				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.64A>T	5.37:g.176857884A>T	ENSP00000347655:p.Asn22Tyr		176790490	O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518139	0.44763	.	.	ENSG00000198055	ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T	0.72615	-0.34;-0.35;-0.67;-0.34;-0.36	4.83	4.83	0.62350	.	0.050785	0.85682	D	0.000000	T	0.70351	0.3214	N	0.12182	0.205	0.80722	D	1	B;B;D	0.67145	0.022;0.005;0.996	B;B;D	0.70227	0.007;0.013;0.968	T	0.74231	-0.3732	10	0.45353	T	0.12	-15.4788	14.3978	0.67022	1.0:0.0:0.0:0.0	.	22;22;22	P43250;P43250-2;D6RHX8	GRK6_HUMAN;.;.	Y	22	ENSP00000347655:N22Y;ENSP00000427581:N22Y;ENSP00000377204:N22Y;ENSP00000348230:N22Y;ENSP00000433511:N22Y	ENSP00000347655:N22Y	N	+	1	0	GRK6	176790490	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.891000	0.63185	1.794000	0.52575	0.379000	0.24179	AAT		0.617	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		T	176857884	A	T	176857884	3	4	369	1	0	0	0	0	1	0	0	0	6793	14	1	5	70	5	GRK6	5	176857884	Missense_Mutation	SNP	A	TCGA-30-1891-01A-01W-0699-08		176857884	4057376	22	20351											
LRRC16A	55604	broad.mit.edu	37	6	25517617	25517617	+	Silent	SNP	T	T	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr6:25517617T>C	ENST00000329474.6	+	22	2216	c.1848T>C	c.(1846-1848)ttT>ttC	p.F616F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	616					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.F616F(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CACAAGGCTTTCAGGATATAG	0.323																																																1	Substitution - coding silent(1)	ovary(1)	6											115	109	111					6																	25517617		1843	4091	5934	25625596	SO:0001819	synonymous_variant	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1848T>C	6.37:g.25517617T>C			25625596	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	CCDS54973.1																																																																																				0.323	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		C	25517617	T	C	25517617	2	2	369	1	0	0	0	0	0	0	0	1	8971	1780	62	4		4	LRRC16A	6	25517617	Silent	SNP	T	TCGA-30-1891-01A-01W-0699-08		25517617	145597450	23	20352											
LATS1	9113	broad.mit.edu	37	6	150023030	150023030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr6:150023030delA	ENST00000543571.1	-	2	780	c.233delT	c.(232-234)ttgfs	p.L78fs	LATS1_ENST00000392273.3_Frame_Shift_Del_p.L78fs|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.L78fs	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.L78fs*54(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AATTTCCTGCAAGGCTTTATG	0.413																																																1	Deletion - Frameshift(1)	ovary(1)	6											173	168	169					6																	150023030		2203	4300	6503	150064723	SO:0001589	frameshift_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.233delT	6.37:g.150023030delA	ENSP00000437550:p.Leu78fs		150064723		Frame_Shift_Del	DEL	ENST00000543571.1	37	CCDS34551.1																																																																																				0.413	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		-	150023030	A	-	150023030	7	5	369	1	0	1	0	1	0	0	0	0	8646	131	5	0	3187	0	LATS1	6	150023030	Frame_Shift_Del	DEL	A	TCGA-30-1891-01A-01W-0699-08	124505413	150023030	21092037	24	20353											
MAD1L1	8379	broad.mit.edu	37	7	2255794	2255794	+	Silent	SNP	C	C	A	rs200142472		TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr7:2255794C>A	ENST00000406869.1	-	8	1364	c.807G>T	c.(805-807)ctG>ctT	p.L269L	MAD1L1_ENST00000265854.7_Silent_p.L269L|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000399654.2_Silent_p.L269L|MAD1L1_ENST00000402746.1_Silent_p.L177L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	269					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.L269L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCCCTCACCGCAGGTGCGCGC	0.647																																																1	Substitution - coding silent(1)	ovary(1)	7											47	54	51					7																	2255794		2008	4164	6172	2222320	SO:0001819	synonymous_variant	8379			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.807G>T	7.37:g.2255794C>A			2222320	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	CCDS43539.1																																																																																				0.647	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		A	2255794	C	A	2255794	2	1	369	1	0	0	0	0	0	0	0	1	9147	697	25	3		3	MAD1L1	7	2255794	Silent	SNP	C	TCGA-30-1891-01A-01W-0699-08		2255794	156882869	25	20354											
ABCB5	340273	broad.mit.edu	37	7	20685402	20685402	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr7:20685402G>T	ENST00000404938.2	+	8	1354	c.702G>T	c.(700-702)aaG>aaT	p.K234N	ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000406935.1_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	234	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGACCAGTAAGGAATTAAGTG	0.403																																																0			7											132	122	125					7																	20685402		1568	3582	5150	20651927	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.702G>T	7.37:g.20685402G>T	ENSP00000384881:p.Lys234Asn		20651927	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018687	0.54576	.	.	ENSG00000004846	ENST00000404938	D	0.91011	-2.77	4.79	1.67	0.24075	.	.	.	.	.	D	0.92264	0.7546	M	0.62266	1.93	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.88980	0.3407	9	0.54805	T	0.06	.	4.9639	0.14080	0.2152:0.0:0.6233:0.1615	.	234	A7BKA4	.	N	234	ENSP00000384881:K234N	ENSP00000384881:K234N	K	+	3	2	ABCB5	20651927	0.999000	0.42202	0.999000	0.59377	0.895000	0.52256	0.503000	0.22610	0.349000	0.23975	-0.122000	0.15005	AAG		0.403	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		T	20685402	G	T	20685402	3	4	369	1	0	0	0	0	1	0	0	0	44	991	35	3	728	3	ABCB5	7	20685402	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	18429608	20685402	138453261	26	20355											
NPC1L1	29881	broad.mit.edu	37	7	44579342	44579342	+	Silent	SNP	G	G	T	rs141358485	byFrequency	TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr7:44579342G>T	ENST00000289547.4	-	2	709	c.654C>A	c.(652-654)atC>atA	p.I218I	NPC1L1_ENST00000381160.3_Silent_p.I218I|NPC1L1_ENST00000546276.1_Silent_p.I218I|NPC1L1_ENST00000423141.1_Silent_p.I218I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	218					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.I218I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGTGGAAGGTGATGTCCAGTG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	7											91	79	83					7																	44579342		2203	4300	6503	44545867	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.654C>A	7.37:g.44579342G>T			44545867	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	CCDS5491.1																																																																																				0.607	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		T	44579342	G	T	44579342	2	4	369	1	0	0	0	0	0	0	0	1	10571	1280	45	3		3	NPC1L1	7	44579342	Silent	SNP	G	TCGA-30-1891-01A-01W-0699-08	23893940	44579342	114559321	27	20356											
SAMD9L	219285	broad.mit.edu	37	7	92763627	92763628	+	Frame_Shift_Ins	INS	-	-	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr7:92763627_92763628insC	ENST00000318238.4	-	5	2873_2874	c.1657_1658insG	c.(1657-1659)gtgfs	p.V553fs	SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.V553fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.V553fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	553					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.V553fs*10(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGGCTTTCCACTGAAGAGAGT	0.347																																																1	Insertion - Frameshift(1)	ovary(1)	7																																								92601564	SO:0001589	frameshift_variant	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1658dupG	7.37:g.92763628_92763628dupC	ENSP00000326247:p.Val553fs		92601563	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Ins	INS	ENST00000318238.4	37	CCDS34681.1																																																																																				0.347	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		C	92763628	-	C	92763627	7	5	369	1	0	1	1	0	0	0	0	0	13830	159	6	0	3100	0	SAMD9L	7	92763627	Frame_Shift_Ins	INS	-	TCGA-30-1891-01A-01W-0699-08	48184285	92763627	66375036	28	20357											
MUC17	140453	broad.mit.edu	37	7	100685760	100685760	+	Missense_Mutation	SNP	C	C	A	rs140881970	byFrequency	TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr7:100685760C>A	ENST00000306151.4	+	3	11127	c.11063C>A	c.(11062-11064)aCg>aAg	p.T3688K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3688	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3688K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAATCTGGACGCCTAGTGAA	0.512																																																1	Substitution - Missense(1)	ovary(1)	7											208	197	201					7																	100685760		2203	4300	6503	100472480	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11063C>A	7.37:g.100685760C>A	ENSP00000302716:p.Thr3688Lys		100472480	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.431	0.638671	0.14386	.	.	ENSG00000169876	ENST00000306151	T	0.02863	4.13	1.71	-1.41	0.08941	.	.	.	.	.	T	0.05593	0.0147	N	0.24115	0.695	0.09310	N	1	D	0.63046	0.992	D	0.72075	0.976	T	0.43861	-0.9365	9	0.39692	T	0.17	.	8.2246	0.31562	0.0:0.5411:0.4589:0.0	.	3688	Q685J3	MUC17_HUMAN	K	3688	ENSP00000302716:T3688K	ENSP00000302716:T3688K	T	+	2	0	MUC17	100472480	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.620000	0.24403	0.002000	0.14630	0.186000	0.17326	ACG		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100685760	C	A	100685760	3	1	369	1	0	0	0	0	1	0	0	0	9974	536	19	3	11073	3	MUC17	7	100685760	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	7922133	100685760	58452903	29	20358											
ZBTB10	65986	broad.mit.edu	37	8	81430806	81430806	+	Nonsense_Mutation	SNP	G	G	A	rs190969114	byFrequency	TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr8:81430806G>A	ENST00000430430.1	+	5	2908	c.2129G>A	c.(2128-2130)tGg>tAg	p.W710*	ZBTB10_ENST00000455036.3_Nonsense_Mutation_p.W710*|ZBTB10_ENST00000426744.2_Nonsense_Mutation_p.W686*|ZBTB10_ENST00000379091.4_Nonsense_Mutation_p.W418*	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	710					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W686*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CAAGAAACCTGGGAAAATGGC	0.308																																																1	Substitution - Nonsense(1)	ovary(1)	8											39	32	35					8																	81430806		1771	4006	5777	81593361	SO:0001587	stop_gained	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.2129G>A	8.37:g.81430806G>A	ENSP00000387462:p.Trp710*		81593361	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Nonsense_Mutation	SNP	ENST00000430430.1	37	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653489	0.96724	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	.	.	.	5.76	5.76	0.90799	.	0.203730	0.43579	D	0.000551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	.	.	.	X	418;710;686;710;536	.	ENSP00000368384:W418X	W	+	2	0	ZBTB10	81593361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.039000	0.64185	2.880000	0.98712	0.650000	0.86243	TGG		0.308	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		A	81430806	G	A	81430806	4	1	369	1	0	0	0	0	0	1	0	0	17523	1357	47	2	2143	2	ZBTB10	8	81430806	Nonsense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08		81430806	64933216	30	20359											
PKHD1L1	93035	broad.mit.edu	37	8	110397798	110397798	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr8:110397798A>T	ENST00000378402.5	+	6	612	c.508A>T	c.(508-510)Act>Tct	p.T170S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	170	IPT/TIG 2.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T170S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAATCTTCACTGATGTCTA	0.308										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	ovary(1)	8											64	62	63					8																	110397798		1805	4064	5869	110466974	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.508A>T	8.37:g.110397798A>T	ENSP00000367655:p.Thr170Ser		110466974	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096468	0.76870	.	.	ENSG00000205038	ENST00000378402	T	0.58652	0.32	5.58	5.58	0.84498	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.061178	0.64402	D	0.000005	T	0.71281	0.3321	M	0.79926	2.475	0.37588	D	0.920081	D	0.63046	0.992	P	0.57283	0.817	T	0.74970	-0.3482	10	0.29301	T	0.29	.	13.699	0.62597	1.0:0.0:0.0:0.0	.	170	Q86WI1	PKHL1_HUMAN	S	170	ENSP00000367655:T170S	ENSP00000367655:T170S	T	+	1	0	PKHD1L1	110466974	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.639000	0.74314	2.129000	0.65627	0.454000	0.30748	ACT		0.308	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110397798	A	T	110397798	3	4	369	1	0	0	0	0	1	0	0	0	11972	159	6	5	530	5	PKHD1L1	8	110397798	Missense_Mutation	SNP	A	TCGA-30-1891-01A-01W-0699-08	28966992	110397798	35966224	31	20360											
PTPRD	5789	broad.mit.edu	37	9	8497241	8497241	+	Splice_Site	SNP	C	C	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr9:8497241C>A	ENST00000381196.4	-	23	2893		c.e23+1		PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAATTACTCACATGTTCAGTA	0.333										TSP Lung(15;0.13)																																						2	Unknown(2)	ovary(1)|lung(1)	9											81	73	76					9																	8497241		2203	4300	6503	8487241	SO:0001630	splice_region_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2349+1G>T	9.37:g.8497241C>A			8487241	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Splice_Site	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434766	0.83885	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000540109	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0128	0.97467	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRD	8487241	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.380000	0.79704	2.827000	0.97445	0.650000	0.86243	.		0.333	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Intron	A	8497241	C	A	8497241	5	1	369	1	0	0	0	0	0	0	1	0	12802	492	17	3	3540	3	PTPRD	9	8497241	Splice_Site	SNP	C	TCGA-30-1891-01A-01W-0699-08		8497241	132716190	32	20361											
ZNF79	7633	broad.mit.edu	37	9	130198267	130198267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr9:130198267C>T	ENST00000342483.5	+	4	719	c.313C>T	c.(313-315)Cga>Tga	p.R105*	ZNF79_ENST00000543471.1_Nonsense_Mutation_p.R81*	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	105	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R105*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CGAAGACCTGCGAAGTCCCTC	0.498																																																1	Substitution - Nonsense(1)	ovary(1)	9											103	93	97					9																	130198267		2203	4300	6503	129238088	SO:0001587	stop_gained	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.313C>T	9.37:g.130198267C>T	ENSP00000362446:p.Arg105*		129238088	Q5VVW1|Q96NV1	Nonsense_Mutation	SNP	ENST00000342483.5	37	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633586	0.87660	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	.	.	.	3.79	-2.71	0.05986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1557	0.20335	0.2376:0.468:0.2943:0.0	.	.	.	.	X	105;81	.	ENSP00000362446:R105X	R	+	1	2	ZNF79	129238088	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.092000	0.11129	-0.399000	0.07668	-1.014000	0.02459	CGA		0.498	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		T	130198267	C	T	130198267	4	4	369	1	0	0	0	0	0	1	0	0	18161	760	27	1	327	1	ZNF79	9	130198267	Nonsense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	121701026	130198267	11015164	33	20362											
UNC5B	219699	broad.mit.edu	37	10	73047481	73047481	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr10:73047481G>A	ENST00000335350.6	+	6	1276	c.860G>A	c.(859-861)gGc>gAc	p.G287D	UNC5B_ENST00000373192.4_Missense_Mutation_p.G287D	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	287	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.G287D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTCTGCGAGGGCCAGGCATTC	0.647																																																1	Substitution - Missense(1)	ovary(1)	10											67	63	64					10																	73047481		2203	4300	6503	72717487	SO:0001583	missense	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.860G>A	10.37:g.73047481G>A	ENSP00000334329:p.Gly287Asp		72717487	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	g	26.8	4.768989	0.90020	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.22134	1.97;1.97	4.88	3.97	0.46021	.	0.054132	0.85682	N	0.000000	T	0.58566	0.2131	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71915	-0.4448	10	0.87932	D	0	-33.0159	13.0087	0.58720	0.0783:0.0:0.9217:0.0	.	287;287	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	D	287	ENSP00000334329:G287D;ENSP00000362288:G287D	ENSP00000334329:G287D	G	+	2	0	UNC5B	72717487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.856000	0.99531	1.061000	0.40601	0.537000	0.68136	GGC		0.647	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		A	73047481	G	A	73047481	3	1	369	1	0	0	0	0	1	0	0	0	16992	1203	42	2	882	2	UNC5B	10	73047481	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08		73047481	62487266	34	20363											
CCDC147	159686	broad.mit.edu	37	10	106152147	106152147	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr10:106152147G>T	ENST00000369704.3	+	10	1656	c.1522G>T	c.(1522-1524)Gct>Tct	p.A508S		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		508						extracellular space (GO:0005615)		p.A508S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCTGGTTGAGGCTCAGGTAAA	0.294																																																1	Substitution - Missense(1)	ovary(1)	10											37	42	41					10																	106152147		2200	4293	6493	106142137	SO:0001583	missense	159686																														ENST00000369704.3:c.1522G>T	10.37:g.106152147G>T	ENSP00000358718:p.Ala508Ser		106142137	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554262	0.65425	.	.	ENSG00000120051	ENST00000369704	T	0.39406	1.08	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.36690	0.0976	L	0.33137	0.985	0.80722	D	1	B	0.25521	0.128	B	0.31390	0.129	T	0.14448	-1.0472	10	0.10111	T	0.7	-8.0472	19.8101	0.96543	0.0:0.0:1.0:0.0	.	508	Q5T655	CC147_HUMAN	S	508	ENSP00000358718:A508S	ENSP00000358718:A508S	A	+	1	0	CCDC147	106142137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.408000	0.73285	2.696000	0.92011	0.655000	0.94253	GCT		0.294	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			T	106152147	G	T	106152147	3	4	369	1	0	0	0	0	1	0	0	0	2781	1203	42	3	1560	3	CCDC147	10	106152147	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	33104666	106152147	29382600	35	20364											
PAOX	196743	broad.mit.edu	37	10	135193944	135193944	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr10:135193944T>C	ENST00000278060.5	+	2	706	c.623T>C	c.(622-624)tTt>tCt	p.F208S	PAOX_ENST00000480071.2_Missense_Mutation_p.F208S|PAOX_ENST00000357296.3_Missense_Mutation_p.F208S|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	346					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.F208S(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CTGGCACCCTTTGGGGAGTAT	0.642																																																2	Substitution - Missense(2)	ovary(2)	10											30	35	33					10																	135193944		2200	4299	6499	135043934	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.623T>C	10.37:g.135193944T>C	ENSP00000278060:p.Phe208Ser		135043934	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735981	0.49045	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	T;T;T	0.10477	2.87;2.87;2.87	4.74	4.74	0.60224	.	0.156736	0.56097	D	0.000028	T	0.24005	0.0581	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.993	D;D;P	0.63113	0.911;0.911;0.854	T	0.00754	-1.1580	10	0.49607	T	0.09	-16.8962	8.6053	0.33769	0.0:0.0:0.1943:0.8057	.	208;208;208	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	S	208	ENSP00000278060:F208S;ENSP00000349847:F208S;ENSP00000435514:F208S	ENSP00000278060:F208S	F	+	2	0	PAOX	135043934	0.999000	0.42202	0.076000	0.20297	0.345000	0.29048	2.088000	0.41663	1.765000	0.52091	0.460000	0.39030	TTT		0.642	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		C	135193944	T	C	135193944	3	2	369	1	0	0	0	0	1	0	0	0	11423	1841	64	4	629	4	PAOX	10	135193944	Missense_Mutation	SNP	T	TCGA-30-1891-01A-01W-0699-08	29041797	135193944	340803	36	20365											
LRRC4C	57689	broad.mit.edu	37	11	40136958	40136958	+	Silent	SNP	C	C	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr11:40136958C>T	ENST00000278198.2	-	2	2848	c.885G>A	c.(883-885)cgG>cgA	p.R295R	LRRC4C_ENST00000528697.1_Silent_p.R295R|LRRC4C_ENST00000530763.1_Silent_p.R295R|LRRC4C_ENST00000527150.1_Silent_p.R295R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	295					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.R295R(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTAAATGTATCCGCTCTAGAT	0.473																																																2	Substitution - coding silent(2)	ovary(1)|skin(1)	11											193	156	169					11																	40136958		2203	4300	6503	40093534	SO:0001819	synonymous_variant	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.885G>A	11.37:g.40136958C>T			40093534	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.473	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		T	40136958	C	T	40136958	2	4	369	1	0	0	0	0	0	0	0	1	9008	842	30	2		2	LRRC4C	11	40136958	Silent	SNP	C	TCGA-30-1891-01A-01W-0699-08		40136958	94869558	37	20366											
C11orf82	220042	broad.mit.edu	37	11	82644445	82644445	+	Missense_Mutation	SNP	A	A	T	rs201671760		TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr11:82644445A>T	ENST00000533655.1	+	6	2277	c.2065A>T	c.(2065-2067)Att>Ttt	p.I689F	C11orf82_ENST00000329143.3_Missense_Mutation_p.I388F|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.I689F|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		689					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I689F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AGAAATGGACATTGCAACTGA	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											145	140	142					11																	82644445		2203	4300	6503	82322093	SO:0001583	missense	220042																														ENST00000533655.1:c.2065A>T	11.37:g.82644445A>T	ENSP00000435421:p.Ile689Phe		82322093	Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.712687	0.30413	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.24908	2.13;2.13;1.83	5.31	-1.23	0.09465	.	1.011240	0.07925	N	0.976544	T	0.22003	0.0530	L	0.60455	1.87	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.31971	-0.9924	9	.	.	.	-9.0E-4	5.6537	0.17631	0.4829:0.0:0.3864:0.1307	.	689	Q8IXT1	NOXIN_HUMAN	F	689;689;388	ENSP00000414687:I689F;ENSP00000435421:I689F;ENSP00000329930:I388F	.	I	+	1	0	C11orf82	82322093	0.359000	0.24955	0.001000	0.08648	0.703000	0.40648	0.839000	0.27586	-0.278000	0.09180	0.528000	0.53228	ATT		0.363	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			T	82644445	A	T	82644445	3	4	369	1	0	0	0	0	1	0	0	0	1665	217	8	5	2079	5	C11orf82	11	82644445	Missense_Mutation	SNP	A	TCGA-30-1891-01A-01W-0699-08	42507487	82644445	52362071	38	20367											
CTSC	1075	broad.mit.edu	37	11	88042468	88042468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr11:88042468G>T	ENST00000227266.5	-	4	618	c.504C>A	c.(502-504)taC>taA	p.Y168*		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	168					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)	p.Y168*(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GATCATACTTGTAGAGCCTAT	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	11											143	126	132					11																	88042468		2201	4299	6500	87682116	SO:0001587	stop_gained	1075			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.504C>A	11.37:g.88042468G>T	ENSP00000227266:p.Tyr168*		87682116	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Nonsense_Mutation	SNP	ENST00000227266.5	37	CCDS8282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.73|10.73	1.433875|1.433875	0.25813|0.25813	.|.	.|.	ENSG00000109861|ENSG00000109861	ENST00000527018|ENST00000393302;ENST00000227266	.|.	.|.	.|.	6.02|6.02	4.15|4.15	0.48705|0.48705	.|.	.|0.115907	.|0.64402	.|D	.|0.000011	T|.	0.59432|.	0.2193|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55270|.	-0.8167|.	4|.	.|.	.|.	.|.	.|.	9.3382|9.3382	0.38062|0.38062	0.266:0.0:0.734:0.0|0.266:0.0:0.734:0.0	.|.	.|.	.|.	.|.	K|X	125|151;168	.|.	.|.	T|Y	-|-	2|3	0|2	CTSC|CTSC	87682116|87682116	0.989000|0.989000	0.36119|0.36119	0.863000|0.863000	0.33907|0.33907	0.193000|0.193000	0.23685|0.23685	1.396000|1.396000	0.34531|0.34531	0.864000|0.864000	0.35578|0.35578	0.650000|0.650000	0.86243|0.86243	ACA|TAC		0.363	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		T	88042468	G	T	88042468	4	4	369	1	0	0	0	0	0	1	0	0	4031	1372	48	3	903	3	CTSC	11	88042468	Nonsense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	5398023	88042468	46964048	39	20368											
C11orf70	85016	broad.mit.edu	37	11	101937354	101937354	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr11:101937354C>T	ENST00000434758.2	+	4	435	c.407C>T	c.(406-408)cCa>cTa	p.P136L	C11orf70_ENST00000534360.1_Intron|C11orf70_ENST00000526781.1_Missense_Mutation_p.P136L	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	136								p.P98L(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TTTTGTGATCCATTTCTCATT	0.318																																																1	Substitution - Missense(1)	ovary(1)	11											106	99	101					11																	101937354		2201	4291	6492	101442564	SO:0001583	missense	85016			AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.407C>T	11.37:g.101937354C>T	ENSP00000414390:p.Pro136Leu		101442564	E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	CCDS8313.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.79|14.79	2.640267|2.640267	0.47153|0.47153	.|.	.|.	ENSG00000137691|ENSG00000137691	ENST00000529204|ENST00000434758;ENST00000526781;ENST00000423732	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.370806	.|0.31010	.|N	.|0.008430	T|T	0.48352|0.48352	0.1495|0.1495	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|P	.|0.38078	.|0.617	.|B	.|0.33960	.|0.173	T|T	0.53655|0.53655	-0.8408|-0.8408	5|9	.|0.62326	.|D	.|0.03	-5.8032|-5.8032	12.8872|12.8872	0.58051|0.58051	0.2681:0.7319:0.0:0.0|0.2681:0.7319:0.0:0.0	.|.	.|136	.|Q9BRQ4	.|CK070_HUMAN	Y|L	28|136;136;98	.|.	.|ENSP00000392150:P98L	H|P	+|+	1|2	0|0	C11orf70|C11orf70	101442564|101442564	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.280000|2.280000	0.43443|0.43443	2.766000|2.766000	0.95052|0.95052	0.557000|0.557000	0.71058|0.71058	CAT|CCA		0.318	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		T	101937354	C	T	101937354	3	4	369	1	0	0	0	0	1	0	0	0	1659	594	21	2	303	2	C11orf70	11	101937354	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	13894886	101937354	33069162	40	20369											
WNK1	65125	broad.mit.edu	37	12	1005549	1005549	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr12:1005549A>G	ENST00000315939.6	+	24	6539	c.5896A>G	c.(5896-5898)Aag>Gag	p.K1966E	WNK1_ENST00000537687.1_Missense_Mutation_p.K2226E|WNK1_ENST00000535572.1_Missense_Mutation_p.K1718E|WNK1_ENST00000530271.2_Missense_Mutation_p.K2464E|WNK1_ENST00000340908.4_Missense_Mutation_p.K1559E	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1966					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.K1966E(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AACTGAGGACAAGATCACTGA	0.458																																					Colon(19;451 567 6672 12618 28860)											1	Substitution - Missense(1)	ovary(1)	12											139	138	138					12																	1005549		2203	4300	6503	875810	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5896A>G	12.37:g.1005549A>G	ENSP00000313059:p.Lys1966Glu		875810	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	7.521	0.656590	0.14580	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.68479	-0.33;-0.3;-0.31;-0.31;0.83	5.92	0.8	0.18672	.	0.285709	0.30510	N	0.009479	T	0.40670	0.1126	L	0.28274	0.84	0.26934	N	0.966398	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.26573	-1.0099	10	0.02654	T	1	-0.8435	4.7185	0.12906	0.4164:0.1758:0.4078:0.0	.	1719;1718;1966	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	E	1718;1966;2226;1139;2464;1559	ENSP00000441972:K1718E;ENSP00000313059:K1966E;ENSP00000444465:K2226E;ENSP00000433548:K2464E;ENSP00000341292:K1559E	ENSP00000252477:K1139E	K	+	1	0	WNK1	875810	0.806000	0.28996	0.763000	0.31416	0.672000	0.39443	1.000000	0.29770	0.110000	0.17919	0.533000	0.62120	AAG		0.458	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		G	1005549	A	G	1005549	3	3	369	1	0	0	0	0	1	0	0	0	17377	131	5	4	7492	4	WNK1	12	1005549	Missense_Mutation	SNP	A	TCGA-30-1891-01A-01W-0699-08		1005549	132846346	41	20370											
OR6C75	390323	broad.mit.edu	37	12	55758973	55758973	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr12:55758973A>G	ENST00000343399.3	+	1	79	c.79A>G	c.(79-81)Ata>Gta	p.I27V		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I27V(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGTACTTTTCATATTTCTTCT	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											133	132	132					12																	55758973		2203	4300	6503	54045240	SO:0001583	missense	390323				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.79A>G	12.37:g.55758973A>G	ENSP00000368987:p.Ile27Val		54045240		Missense_Mutation	SNP	ENST00000343399.3	37	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	A	4.807	0.150087	0.09185	.	.	ENSG00000187857	ENST00000343399	T	0.00565	6.56	5.18	-10.4	0.00318	.	1.990120	0.02993	N	0.147130	T	0.00271	0.0008	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44847	-0.9301	10	0.21014	T	0.42	.	9.0963	0.36640	0.1165:0.3786:0.4296:0.0753	.	27	A6NL08	O6C75_HUMAN	V	27	ENSP00000368987:I27V	ENSP00000368987:I27V	I	+	1	0	OR6C75	54045240	0.000000	0.05858	0.000000	0.03702	0.961000	0.63080	-3.857000	0.00349	-3.409000	0.00169	0.478000	0.44815	ATA		0.383	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			G	55758973	A	G	55758973	3	3	369	1	0	0	0	0	1	0	0	0	11199	217	8	4	81	4	OR6C75	12	55758973	Missense_Mutation	SNP	A	TCGA-30-1891-01A-01W-0699-08	54753424	55758973	78092922	42	20371											
ARHGAP9	64333	broad.mit.edu	37	12	57873157	57873157	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr12:57873157C>A	ENST00000356411.2	-	2	171	c.33G>T	c.(31-33)tgG>tgT	p.W11C	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.W11C|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.W90C|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.W82C|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.W11C|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	11					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.W11C(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTAGGATCCCCCAGGAACTTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	12											30	31	31					12																	57873157		2203	4300	6503	56159424	SO:0001583	missense	64333			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.33G>T	12.37:g.57873157C>A	ENSP00000348782:p.Trp11Cys		56159424	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37		.	.	.	.	.	.	.	.	.	.	C	15.00	2.703632	0.48412	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.27256	3.03;3.01;1.68;2.89	4.26	4.26	0.50523	.	0.458667	0.20166	N	0.097850	T	0.26412	0.0645	N	0.19112	0.55	0.47214	D	0.999358	D;D;P;D;P	0.58620	0.983;0.983;0.947;0.969;0.947	P;B;B;P;B	0.52710	0.707;0.339;0.436;0.54;0.339	T	0.03673	-1.1014	10	0.72032	D	0.01	.	12.3724	0.55261	0.0:1.0:0.0:0.0	.	11;90;11;11;11	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	C	11;11;11;82;60	ENSP00000377380:W11C;ENSP00000348782:W11C;ENSP00000394307:W11C;ENSP00000377386:W82C	ENSP00000344852:W60C	W	-	3	0	ARHGAP9	56159424	0.928000	0.31464	0.997000	0.53966	0.994000	0.84299	1.855000	0.39378	2.357000	0.79964	0.655000	0.94253	TGG		0.597	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		A	57873157	C	A	57873157	3	1	369	1	0	0	0	0	1	0	0	0	889	624	22	3	2230	3	ARHGAP9	12	57873157	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	2114184	57873157	75978738	43	20372											
CENPJ	55835	broad.mit.edu	37	13	25487017	25487017	+	Silent	SNP	G	G	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr13:25487017G>A	ENST00000381884.4	-	2	332	c.147C>T	c.(145-147)gaC>gaT	p.D49D	CENPJ_ENST00000545981.1_Silent_p.D49D	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	49					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.D49D(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TGGTAGAAATGTCCACAGCTG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	13											95	96	96					13																	25487017		2203	4300	6503	24385017	SO:0001819	synonymous_variant	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.147C>T	13.37:g.25487017G>A			24385017	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	ENST00000381884.4	37	CCDS9310.1																																																																																				0.413	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		A	25487017	G	A	25487017	2	1	369	1	0	0	0	0	0	0	0	1	3234	1368	48	2		2	CENPJ	13	25487017	Silent	SNP	G	TCGA-30-1891-01A-01W-0699-08		25487017	89682861	44	20373											
ERCC5	2073	broad.mit.edu	37	13	103527925	103527925	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr13:103527925C>T	ENST00000355739.4	+	15	4656	c.3233C>T	c.(3232-3234)tCt>tTt	p.S1078F	ERCC5_ENST00000375954.1_Missense_Mutation_p.S311F|ERCC5_ENST00000472247.1_3'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	1078					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.S1078F(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTTCAGATTCTAAAGGAAAG	0.398			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	1	Substitution - Missense(1)	ovary(1)	13											84	90	88					13																	103527925		2203	4300	6503	102325926	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.3233C>T	13.37:g.103527925C>T	ENSP00000347978:p.Ser1078Phe		102325926	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627404	0.66901	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.07800	3.44;3.16	4.51	4.51	0.55191	.	0.515494	0.19212	N	0.119905	T	0.18173	0.0436	L	0.57536	1.79	0.30556	N	0.76496	D	0.54397	0.966	P	0.50440	0.641	T	0.01810	-1.1269	10	0.72032	D	0.01	-0.859	17.6093	0.88048	0.0:1.0:0.0:0.0	.	1078	P28715	ERCC5_HUMAN	F	1503;1078;910;311	ENSP00000347978:S1078F;ENSP00000365121:S311F	ENSP00000347978:S1078F	S	+	2	0	ERCC5	102325926	0.002000	0.14202	0.019000	0.16419	0.488000	0.33401	1.540000	0.36115	2.235000	0.73313	0.650000	0.86243	TCT		0.398	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			T	103527925	C	T	103527925	3	4	369	1	0	0	0	0	1	0	0	0	5216	913	32	2	3291	2	ERCC5	13	103527925	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	78040908	103527925	11641953	45	20374											
LTB4R2	56413	broad.mit.edu	37	14	24779909	24779909	+	Silent	SNP	G	G	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr14:24779909G>A	ENST00000528054.1	+	1	1749	c.132G>A	c.(130-132)ctG>ctA	p.L44L	CIDEB_ENST00000554411.1_5'Flank|CIDEB_ENST00000555817.1_5'Flank|LTB4R2_ENST00000533293.1_Silent_p.L13L|CIDEB_ENST00000336557.5_5'UTR|LTB4R_ENST00000345363.3_5'Flank|LTB4R2_ENST00000543919.1_Silent_p.L13L|CIDEB_ENST00000258807.5_5'UTR|LTB4R_ENST00000396789.4_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	44					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)	p.L44L(1)		endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		ACGAGACACTGCTGAGCTGGA	0.667																																																1	Substitution - coding silent(1)	ovary(1)	14											49	47	47					14																	24779909		2203	4300	6503	23849749	SO:0001819	synonymous_variant	56413			AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.132G>A	14.37:g.24779909G>A			23849749	Q5KU28|Q9NPE5	Silent	SNP	ENST00000528054.1	37																																																																																					0.667	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			A	24779909	G	A	24779909	2	1	369	1	0	0	0	0	0	0	0	1	9072	1306	46	2		2	LTB4R2	14	24779909	Silent	SNP	G	TCGA-30-1891-01A-01W-0699-08		24779909	82569631	46	20375											
ADAM10	102	broad.mit.edu	37	15	58933092	58933092	+	Missense_Mutation	SNP	T	T	A	rs201478118		TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr15:58933092T>A	ENST00000260408.3	-	8	1339	c.896A>T	c.(895-897)aAg>aTg	p.K299M	ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	299	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.K299M(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCCAGAAACTTCTCCACACC	0.388																																																1	Substitution - Missense(1)	ovary(1)	15											92	88	90					15																	58933092		2192	4292	6484	56720384	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.896A>T	15.37:g.58933092T>A	ENSP00000260408:p.Lys299Met		56720384	B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332032	0.81801	.	.	ENSG00000137845	ENST00000260408;ENST00000396136	D	0.86694	-2.16	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.91683	0.7371	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.91009	0.4848	10	0.39692	T	0.17	-21.5732	16.0048	0.80354	0.0:0.0:0.0:1.0	.	299	O14672	ADA10_HUMAN	M	299;118	ENSP00000260408:K299M	ENSP00000260408:K299M	K	-	2	0	ADAM10	56720384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.199000	0.72112	2.237000	0.73441	0.528000	0.53228	AAG		0.388	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		A	58933092	T	A	58933092	3	1	369	1	0	0	0	0	1	0	0	0	234	1609	56	5	1386	5	ADAM10	15	58933092	Missense_Mutation	SNP	T	TCGA-30-1891-01A-01W-0699-08		58933092	43598300	47	20376											
DNAH3	55567	broad.mit.edu	37	16	21031122	21031122	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr16:21031122A>T	ENST00000261383.3	-	41	5845	c.5846T>A	c.(5845-5847)cTc>cAc	p.L1949H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1949					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.L1949H(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGGAGCCAGAGAAAGATCTG	0.463																																																2	Substitution - Missense(2)	ovary(2)	16											105	96	99					16																	21031122		2201	4300	6501	20938623	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5846T>A	16.37:g.21031122A>T	ENSP00000261383:p.Leu1949His		20938623	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304881	0.40795	.	.	ENSG00000158486	ENST00000261383	T	0.27890	1.64	5.49	5.49	0.81192	.	0.183356	0.34986	N	0.003528	T	0.40979	0.1139	L	0.58428	1.81	0.80722	D	1	D	0.63880	0.993	P	0.52856	0.711	T	0.23332	-1.0191	10	0.44086	T	0.13	.	11.5584	0.50761	0.9284:0.0:0.0716:0.0	.	1949	Q8TD57	DYH3_HUMAN	H	1949	ENSP00000261383:L1949H	ENSP00000261383:L1949H	L	-	2	0	DNAH3	20938623	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.647000	0.74354	2.109000	0.64355	0.456000	0.33151	CTC		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21031122	A	T	21031122	3	4	369	1	0	0	0	0	1	0	0	0	4603	304	11	5	6591	5	DNAH3	16	21031122	Missense_Mutation	SNP	A	TCGA-30-1891-01A-01W-0699-08		21031122	69323631	48	20377											
USP31	57478	broad.mit.edu	37	16	23080857	23080857	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr16:23080857C>T	ENST00000219689.7	-	16	2568	c.2569G>A	c.(2569-2571)Gcc>Acc	p.A857T	USP31_ENST00000567975.1_Missense_Mutation_p.A150T	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.A857T(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCATTGACGGCCAAGGGGCTG	0.483																																																1	Substitution - Missense(1)	ovary(1)	16											42	37	39					16																	23080857		2197	4300	6497	22988358	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2569G>A	16.37:g.23080857C>T	ENSP00000219689:p.Ala857Thr		22988358	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925209	0.73213	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.09445	2.98	6.04	6.04	0.98038	.	0.305128	0.30011	N	0.010633	T	0.19005	0.0456	L	0.40543	1.245	0.58432	D	0.999999	D;P;D	0.56521	0.976;0.605;0.975	P;B;P	0.53266	0.722;0.278;0.648	T	0.01081	-1.1458	10	0.20519	T	0.43	-3.6201	19.5772	0.95449	0.0:1.0:0.0:0.0	.	160;857;150	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	T	857;160	ENSP00000219689:A857T	ENSP00000219689:A857T	A	-	1	0	USP31	22988358	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.468000	0.80943	2.876000	0.98609	0.650000	0.86243	GCC		0.483	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		T	23080857	C	T	23080857	3	4	369	1	0	0	0	0	1	0	0	0	17062	739	26	2	1493	2	USP31	16	23080857	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	2049735	23080857	67273896	49	20378											
SULT1A1	6817	broad.mit.edu	37	16	28619665	28619665	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr16:28619665T>C	ENST00000395607.1	-	4	592	c.319A>G	c.(319-321)Aca>Gca	p.T107A	SULT1A1_ENST00000569554.1_Missense_Mutation_p.T107A|SULT1A1_ENST00000314752.7_Missense_Mutation_p.T107A|SULT1A1_ENST00000395609.1_Missense_Mutation_p.T107A|SULT1A1_ENST00000350842.4_Intron	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	107	Substrate binding.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)	p.T107A(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GGCAGGTGTGTCTTCAGGAGT	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											190	147	161					16																	28619665		2197	4300	6497	28527166	SO:0001583	missense	6817			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.319A>G	16.37:g.28619665T>C	ENSP00000378971:p.Thr107Ala		28527166	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.677910	0.47886	.	.	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	D;D;D	0.85861	-2.04;-2.04;-2.04	2.21	2.21	0.28008	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89911	0.6852	M	0.93550	3.43	0.29164	N	0.877545	B	0.26041	0.14	B	0.40741	0.339	D	0.87086	0.2169	10	0.87932	D	0	.	8.3655	0.32385	0.0:0.0:0.0:1.0	.	107	P50225	ST1A1_HUMAN	A	107	ENSP00000321988:T107A;ENSP00000378972:T107A;ENSP00000378971:T107A	ENSP00000321988:T107A	T	-	1	0	SULT1A1	28527166	1.000000	0.71417	0.132000	0.22025	0.058000	0.15608	3.619000	0.54196	1.282000	0.44496	0.254000	0.18369	ACA		0.587	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		C	28619665	T	C	28619665	3	2	369	1	0	0	0	0	1	0	0	0	15374	1667	58	4	588	4	SULT1A1	16	28619665	Missense_Mutation	SNP	T	TCGA-30-1891-01A-01W-0699-08	5538808	28619665	61735088	50	20379											
ITGAM	3684	broad.mit.edu	37	16	31332675	31332675	+	Silent	SNP	G	G	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr16:31332675G>T	ENST00000287497.8	+	15	1896	c.1821G>T	c.(1819-1821)ggG>ggT	p.G607G	ITGAM_ENST00000544665.3_Silent_p.G608G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	607					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.G607G(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGCCCAGGGGCACGTGCTGC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	16											102	109	106					16																	31332675		2100	4241	6341	31240176	SO:0001819	synonymous_variant	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1821G>T	16.37:g.31332675G>T			31240176	Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	CCDS45470.1																																																																																				0.542	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		T	31332675	G	T	31332675	2	4	369	1	0	0	0	0	0	0	0	1	7887	1190	42	3		3	ITGAM	16	31332675	Silent	SNP	G	TCGA-30-1891-01A-01W-0699-08	2713010	31332675	59022078	51	20380											
MT1B	4490	broad.mit.edu	37	16	56686494	56686494	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr16:56686494G>T	ENST00000334346.2	+	2	95	c.40G>T	c.(40-42)Gcc>Tcc	p.A14S	RP11-249C24.11_ENST00000568608.1_RNA|MT1B_ENST00000562399.1_Missense_Mutation_p.A14S	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	14	Beta.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.A14S(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TGGCTCCTGTGCCTGCGCCGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	16											122	107	112					16																	56686494		2198	4300	6498	55243995	SO:0001583	missense	4490			AY168638	CCDS10765.1	16q13	2008-02-05	2007-03-02		ENSG00000169688	ENSG00000169688		"Metallothioneins"	7394	protein-coding gene	gene with protein product		156349	"metallothionein 1Q"	MT1, MT1Q		6089206, 3785191	Standard	NM_005947		Approved		uc002ejs.3	P07438	OTTHUMG00000133277	ENST00000334346.2:c.40G>T	16.37:g.56686494G>T	ENSP00000334998:p.Ala14Ser		55243995	Q86YX0	Missense_Mutation	SNP	ENST00000334346.2	37	CCDS10765.1	.	.	.	.	.	.	.	.	.	.	G	5.291	0.239092	0.10023	.	.	ENSG00000169688	ENST00000334346	T	0.09163	3.01	2.61	-5.22	0.02806	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.625774	0.13226	U	0.404034	T	0.05090	0.0136	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.30208	-0.9986	9	0.28530	T	0.3	.	4.8143	0.13358	0.4665:0.1615:0.372:0.0	.	14	P07438	MT1B_HUMAN	S	14	ENSP00000334998:A14S	ENSP00000334998:A14S	A	+	1	0	MT1B	55243995	0.004000	0.15560	0.037000	0.18230	0.001000	0.01503	-0.006000	0.12833	-1.725000	0.01371	-2.125000	0.00346	GCC		0.552	MT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257057.2	NM_005947		T	56686494	G	T	56686494	3	4	369	1	0	0	0	0	1	0	0	0	9898	1319	46	3	46	3	MT1B	16	56686494	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	25353819	56686494	33668259	52	20381											
KCTD19	146212	broad.mit.edu	37	16	67335749	67335749	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr16:67335749T>G	ENST00000304372.5	-	5	775	c.720A>C	c.(718-720)gaA>gaC	p.E240D	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	240					protein homooligomerization (GO:0051260)			p.E240D(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTTCCAGAATTTCCACTTCTG	0.453																																																1	Substitution - Missense(1)	ovary(1)	16											153	154	154					16																	67335749		1877	4115	5992	65893250	SO:0001583	missense	146212			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.720A>C	16.37:g.67335749T>G	ENSP00000305702:p.Glu240Asp		65893250	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955279	0.34471	.	.	ENSG00000168676	ENST00000304372	T	0.60672	0.17	6.17	3.8	0.43715	BTB/POZ fold (2);	0.407680	0.26279	N	0.025294	T	0.28001	0.0690	N	0.03608	-0.345	0.25805	N	0.984465	B	0.12630	0.006	B	0.06405	0.002	T	0.16276	-1.0408	10	0.11485	T	0.65	-16.4359	8.2165	0.31514	0.0:0.077:0.1446:0.7783	.	240	Q17RG1	KCD19_HUMAN	D	240	ENSP00000305702:E240D	ENSP00000305702:E240D	E	-	3	2	KCTD19	65893250	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.860000	0.27871	1.165000	0.42670	0.533000	0.62120	GAA		0.453	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		G	67335749	T	G	67335749	3	3	369	1	0	0	0	0	1	0	0	0	8106	1838	64	5	2108	5	KCTD19	16	67335749	Missense_Mutation	SNP	T	TCGA-30-1891-01A-01W-0699-08	10649255	67335749	23019004	53	20382											
YWHAE	7531	broad.mit.edu	37	17	1268287	1268287	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr17:1268287G>A	ENST00000264335.8	-	2	397	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Missense_Mutation_p.L44F|YWHAE_ENST00000571732.1_Missense_Mutation_p.L22F	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	44					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.L44F(1)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ACAGATAGGAGGTTTCTTTCT	0.413			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																																Dom	yes		17	17p13.3	7531	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	M	1	Substitution - Missense(1)	ovary(1)	17											130	122	125					17																	1268287		2203	4300	6503	1215037	SO:0001583	missense	7531			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.130C>T	17.37:g.1268287G>A	ENSP00000264335:p.Leu44Phe		1215037	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335936	0.81801	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.63417	-0.04	5.28	4.31	0.51392	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.64402	U	0.000006	T	0.79707	0.4492	H	0.96080	3.765	0.80722	D	1	D	0.53619	0.961	P	0.56343	0.796	D	0.83427	0.0036	10	0.87932	D	0	-14.1269	7.1132	0.25403	0.184:0.0:0.816:0.0	.	44	P62258	1433E_HUMAN	F	44;22	ENSP00000264335:L44F	ENSP00000264335:L44F	L	-	1	0	YWHAE	1215037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.778000	0.68940	2.469000	0.83416	0.557000	0.71058	CTC		0.413	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		A	1268287	G	A	1268287	3	1	369	1	0	0	0	0	1	0	0	0	17502	1000	35	2	657	2	YWHAE	17	1268287	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08		1268287	79926923	54	20383											
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)	CACTCGGATAAGATGCTGAGG	0.552		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"	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)	17											97	87	90					17																	7578268		2203	4300	6503	7518993	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.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg		7518993	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	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	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	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578268	A	C	7578268	3	2	369	1	0	0	0	0	1	0	0	0	16381	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-30-1891-01A-01W-0699-08	6309981	7578268	73616942	55	20384											
PER1	5187	broad.mit.edu	37	17	8047120	8047120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr17:8047120G>A	ENST00000317276.4	-	19	2773	c.2536C>T	c.(2536-2538)Cag>Tag	p.Q846*	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Nonsense_Mutation_p.Q823*	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	846					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.Q846*(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGAGGGTTCTGGTGGTGGCGT	0.682			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	1	Substitution - Nonsense(1)	ovary(1)	17											43	51	48					17																	8047120		2203	4300	6503	7987845	SO:0001587	stop_gained	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2536C>T	17.37:g.8047120G>A	ENSP00000314420:p.Gln846*		7987845	B2RPA8|B4DI49|D3DTR3	Nonsense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	40	8.056967	0.98632	.	.	ENSG00000179094	ENST00000317276	.	.	.	5.24	5.24	0.73138	.	0.306795	0.32769	N	0.005676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-14.7005	12.0932	0.53739	0.0:0.1736:0.8264:0.0	.	.	.	.	X	846	.	ENSP00000314420:Q846X	Q	-	1	0	PER1	7987845	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	1.661000	0.37408	2.450000	0.82876	0.563000	0.77884	CAG		0.682	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8047120	G	A	8047120	4	1	369	1	0	0	0	0	0	1	0	0	11729	1357	47	2	1356	2	PER1	17	8047120	Nonsense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	468852	8047120	73148090	56	20385											
MYH13	8735	broad.mit.edu	37	17	10227413	10227413	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr17:10227413G>C	ENST00000418404.3	-	22	3023	c.2860C>G	c.(2860-2862)Ctc>Gtc	p.L954V	MYH13_ENST00000252172.4_Missense_Mutation_p.L954V|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	954					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L954V(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCTCTTGAGAGAGGAGCAT	0.468																																																2	Substitution - Missense(2)	ovary(2)	17											121	123	122					17																	10227413		2188	4300	6488	10168138	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2860C>G	17.37:g.10227413G>C	ENSP00000404570:p.Leu954Val		10168138	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922812	0.73213	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.95001	-3.58	4.37	4.37	0.52481	.	.	.	.	.	D	0.97958	0.9328	H	0.94808	3.585	0.38886	D	0.957006	D;D	0.71674	0.998;0.998	D;D	0.70935	0.96;0.971	D	0.99925	1.1281	9	0.87932	D	0	.	17.4708	0.87646	0.0:0.0:1.0:0.0	.	580;954	B4DFX9;Q9UKX3	.;MYH13_HUMAN	V	954;580	ENSP00000252172:L954V	ENSP00000252172:L954V	L	-	1	0	MYH13	10168138	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.835000	0.55805	2.407000	0.81776	0.655000	0.94253	CTC		0.468	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		C	10227413	G	C	10227413	3	2	369	1	0	0	0	0	1	0	0	0	10032	942	33	3	3032	3	MYH13	17	10227413	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08	2180293	10227413	70967797	57	20386											
KRT12	3859	broad.mit.edu	37	17	39019539	39019539	+	Silent	SNP	C	C	G			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr17:39019539C>G	ENST00000251643.4	-	6	1175	c.1152G>C	c.(1150-1152)ctG>ctC	p.L384L	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	384	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.L384L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GCACCTGGGACAGCTGCGCGC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	17											22	20	21					17																	39019539		2197	4295	6492	36273065	SO:0001819	synonymous_variant	3859				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1152G>C	17.37:g.39019539C>G			36273065	B2R9E0	Silent	SNP	ENST00000251643.4	37	CCDS11378.1																																																																																				0.617	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		G	39019539	C	G	39019539	2	3	369	1	0	0	0	0	0	0	0	1	8449	465	17	3		3	KRT12	17	39019539	Silent	SNP	C	TCGA-30-1891-01A-01W-0699-08	28792126	39019539	42175671	58	20387											
HAP1	9001	broad.mit.edu	37	17	39884453	39884453	+	Splice_Site	SNP	C	C	G			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr17:39884453C>G	ENST00000310778.5	-	7	1209	c.1200G>C	c.(1198-1200)atG>atC	p.M400I	HAP1_ENST00000347901.4_Splice_Site_p.M400I|HAP1_ENST00000393939.2_Splice_Site_p.M400I|HAP1_ENST00000341193.5_Splice_Site_p.M408I|RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	400	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.M400I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCGACTCACCATCCGGCAGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											41	41	41					17																	39884453		2203	4300	6503	37137979	SO:0001630	splice_region_variant	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1200+1G>C	17.37:g.39884453C>G			37137979	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	C	4.712	0.132478	0.08981	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	4.14	0.82	0.18793	.	0.794140	0.10412	N	0.677759	T	0.08313	0.0207	N	0.14661	0.345	0.20563	N	0.999887	B;B;B;B	0.09022	0.0;0.001;0.001;0.002	B;B;B;B	0.17433	0.0;0.0;0.006;0.018	T	0.41052	-0.9530	9	.	.	.	-0.0237	3.8802	0.09074	0.1953:0.5889:0.0:0.2158	.	400;408;400;400	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	I	400;400;400;408	ENSP00000377513:M400I;ENSP00000309392:M400I;ENSP00000334002:M400I;ENSP00000343170:M408I	.	M	-	3	0	HAP1	37137979	0.727000	0.28069	0.661000	0.29709	0.003000	0.03518	1.135000	0.31454	0.379000	0.24794	-0.309000	0.09137	ATG		0.637	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949	Missense_Mutation	G	39884453	C	G	39884453	5	3	369	1	0	0	0	0	0	0	1	0	6953	608	21	3	679	3	HAP1	17	39884453	Splice_Site	SNP	C	TCGA-30-1891-01A-01W-0699-08	864914	39884453	41310757	59	20388											
RUNDC3A	10900	broad.mit.edu	37	17	42390852	42390852	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr17:42390852C>T	ENST00000426726.3	+	4	713	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R142C|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R147C	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	147	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)	p.R147C(1)		large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CACGGCTCTGCGTGACACCCG	0.562																																					Pancreas(82;1061 1416 11136 20771 23901)											1	Substitution - Missense(1)	ovary(1)	17											58	62	61					17																	42390852		2097	4229	6326	39746378	SO:0001583	missense	10900			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.439C>T	17.37:g.42390852C>T	ENSP00000410862:p.Arg147Cys		39746378	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	c	18.24	3.580728	0.65992	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.31769	1.48;1.48	4.65	3.6	0.41247	RUN (3);	0.061283	0.64402	D	0.000009	T	0.53254	0.1785	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.58244	-0.7670	10	0.87932	D	0	-23.0784	10.7136	0.46000	0.3209:0.6791:0.0:0.0	.	147;147;142;147	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	C	147	ENSP00000410862:R147C;ENSP00000225441:R147C	ENSP00000225441:R147C	R	+	1	0	RUNDC3A	39746378	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	0.605000	0.24179	2.147000	0.66899	0.448000	0.29417	CGT		0.562	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		T	42390852	C	T	42390852	3	4	369	1	0	0	0	0	1	0	0	0	13747	768	27	1	453	1	RUNDC3A	17	42390852	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08	2506399	42390852	38804358	60	20389											
FARSA	2193	broad.mit.edu	37	19	13035065	13035065	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr19:13035065C>A	ENST00000314606.4	-	12	1306	c.1288G>T	c.(1288-1290)Gtg>Ttg	p.V430L	FARSA_ENST00000588025.1_Missense_Mutation_p.V470L|FARSA_ENST00000423140.2_Missense_Mutation_p.V399L	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	430					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.V430L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCGACCTCCACCCACTTCTTC	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											73	76	75					19																	13035065		2203	4300	6503	12896065	SO:0001583	missense	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1288G>T	19.37:g.13035065C>A	ENSP00000320309:p.Val430Leu		12896065	B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009594	0.75046	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.61742	0.08;0.08	5.1	5.1	0.69264	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	L	0.33710	1.025	0.80722	D	1	P;P;P	0.52316	0.952;0.709;0.709	B;B;B	0.44133	0.442;0.268;0.268	T	0.59778	-0.7390	10	0.72032	D	0.01	-4.894	17.309	0.87204	0.0:1.0:0.0:0.0	.	399;430;430	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	L	430;399	ENSP00000320309:V430L;ENSP00000396548:V399L	ENSP00000320309:V430L	V	-	1	0	FARSA	12896065	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.296000	0.78790	2.376000	0.81061	0.655000	0.94253	GTG		0.612	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		A	13035065	C	A	13035065	3	1	369	1	0	0	0	0	1	0	0	0	5679	507	18	3	246	3	FARSA	19	13035065	Missense_Mutation	SNP	C	TCGA-30-1891-01A-01W-0699-08		13035065	46093918	61	20390											
FKBP8	23770	broad.mit.edu	37	19	18650469	18650469	+	Silent	SNP	G	G	C			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr19:18650469G>C	ENST00000596558.2	-	3	463	c.354C>G	c.(352-354)gtC>gtG	p.V118V	FKBP8_ENST00000608443.1_Silent_p.V118V|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000453489.2_Silent_p.V147V|FKBP8_ENST00000597960.3_Silent_p.V118V|FKBP8_ENST00000222308.4_Silent_p.V118V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	118					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.V118V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CCTGGCCCTTGACCGGGCGGC	0.652																																																1	Substitution - coding silent(1)	ovary(1)	19											139	146	143					19																	18650469		2203	4300	6503	18511469	SO:0001819	synonymous_variant	23770			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.354C>G	19.37:g.18650469G>C			18511469	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37																																																																																					0.652	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		C	18650469	G	C	18650469	2	2	369	1	0	0	0	0	0	0	0	1	5914	1277	45	3		3	FKBP8	19	18650469	Silent	SNP	G	TCGA-30-1891-01A-01W-0699-08	5615404	18650469	40478514	62	20391											
PROKR2	128674	broad.mit.edu	37	20	5294722	5294722	+	Silent	SNP	G	G	A	rs146061254		TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr20:5294722G>A	ENST00000217270.3	-	1	293	c.294C>T	c.(292-294)tcC>tcT	p.S98S	PROKR2_ENST00000546004.1_Silent_p.S98S	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	98					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.S98S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CCAGGAAGTCGGAGATGGCCA	0.572										HNSCC(71;0.22)																																						1	Substitution - coding silent(1)	ovary(1)	20						G		0,4406		0,0,2203	173	133	146		294	-10.2	0.4	20	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PROKR2	NM_144773.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		98/385	5294722	1,13005	2203	4300	6503	5242722	SO:0001819	synonymous_variant	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.294C>T	20.37:g.5294722G>A			5242722	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	CCDS13089.1																																																																																				0.572	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		A	5294722	G	A	5294722	2	1	369	1	0	0	0	0	0	0	0	1	12556	1103	39	1		1	PROKR2	20	5294722	Silent	SNP	G	TCGA-30-1891-01A-01W-0699-08		5294722	57730798	63	20392											
PHF20	51230	broad.mit.edu	37	20	34526765	34526765	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr20:34526765T>A	ENST00000374012.3	+	16	2576	c.2447T>A	c.(2446-2448)gTg>gAg	p.V816E	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	816					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V816E(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AACGGGGCAGTGGAGAAGCCC	0.572																																																1	Substitution - Missense(1)	ovary(1)	20											44	46	45					20																	34526765		2203	4300	6503	33990179	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2447T>A	20.37:g.34526765T>A	ENSP00000363124:p.Val816Glu		33990179	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.408861	0.25378	.	.	ENSG00000025293	ENST00000374012	T	0.32023	1.47	5.91	4.81	0.61882	.	0.505775	0.23404	N	0.048549	T	0.19685	0.0473	N	0.24115	0.695	0.58432	D	0.999997	B	0.31153	0.31	B	0.24974	0.057	T	0.05886	-1.0858	10	0.56958	D	0.05	.	10.3333	0.43835	0.0:0.1281:0.0:0.8719	.	816	Q9BVI0	PHF20_HUMAN	E	816	ENSP00000363124:V816E	ENSP00000363124:V816E	V	+	2	0	PHF20	33990179	0.988000	0.35896	0.952000	0.39060	0.102000	0.19082	1.649000	0.37281	2.254000	0.74563	0.533000	0.62120	GTG		0.572	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		A	34526765	T	A	34526765	3	1	369	1	0	0	0	0	1	0	0	0	11831	1696	59	5	2505	5	PHF20	20	34526765	Missense_Mutation	SNP	T	TCGA-30-1891-01A-01W-0699-08	29232043	34526765	28498755	64	20393											
MRPL39	54148	broad.mit.edu	37	21	26965162	26965162	+	Missense_Mutation	SNP	G	G	C	rs61735761		TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chr21:26965162G>C	ENST00000352957.4	-	8	924	c.883C>G	c.(883-885)Cga>Gga	p.R295G	MRPL39_ENST00000307301.7_Missense_Mutation_p.R295G	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	295						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R295G(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGGAATCTTCGTATGAGACTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	21											87	81	83					21																	26965162		2203	4300	6503	25887033	SO:0001583	missense	54148			AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"Mitochondrial ribosomal proteins / large subunits"	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.883C>G	21.37:g.26965162G>C	ENSP00000284967:p.Arg295Gly		25887033	C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139735	0.37728	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.45668	0.89;0.89;0.92	5.39	2.38	0.29361	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	L	0.59436	1.845	0.52099	D	0.999945	P;P	0.51653	0.947;0.947	P;P	0.55391	0.68;0.775	T	0.60010	-0.7346	10	0.72032	D	0.01	-9.1079	14.6113	0.68517	0.0:0.0:0.5272:0.4728	.	295;295	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	G	295;295;285	ENSP00000284967:R295G;ENSP00000305682:R295G;ENSP00000404426:R285G	ENSP00000305682:R295G	R	-	1	2	MRPL39	25887033	0.587000	0.26791	0.671000	0.29857	0.668000	0.39293	0.688000	0.25422	0.782000	0.33613	0.655000	0.94253	CGA		0.408	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		C	26965162	G	C	26965162	3	2	369	1	0	0	0	0	1	0	0	0	9802	1153	40	3	238	3	MRPL39	21	26965162	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08		26965162	21164733	65	20394											
WNK3	65267	broad.mit.edu	37	X	54321213	54321213	+	Missense_Mutation	SNP	G	G	A	rs373983548		TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chrX:54321213G>A	ENST00000375159.2	-	7	1465	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	WNK3_ENST00000354646.2_Missense_Mutation_p.T489M|WNK3_ENST00000375169.3_Missense_Mutation_p.T489M			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	489					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T489M(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTTTATTGGCGTCACCCGGTC	0.448																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)	X						G	MET/THR,MET/THR	0,3835		0,0,0,1632,571	72	65	68		1466,1466	4.9	1	X		68	2,6726		0,1,1,2427,1871	no	missense,missense	WNK3	NM_001002838.3,NM_020922.4	81,81	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	probably-damaging,probably-damaging	489/1744,489/1801	54321213	2,10561	2203	4300	6503	54337938	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1466C>T	X.37:g.54321213G>A	ENSP00000364301:p.Thr489Met		54337938	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825096	0.50739	0.0	2.97E-4	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70749	-0.49;-0.51;-0.51	4.89	4.89	0.63831	.	0.260386	0.27402	N	0.019521	T	0.67221	0.2870	N	0.19112	0.55	0.09310	N	1	D;D	0.64830	0.994;0.989	P;P	0.55667	0.781;0.608	T	0.61758	-0.6997	10	0.56958	D	0.05	-3.5841	11.8628	0.52476	0.0:0.1727:0.8273:0.0	.	489;489	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	M	489	ENSP00000364312:T489M;ENSP00000346667:T489M;ENSP00000364301:T489M	ENSP00000346667:T489M	T	-	2	0	WNK3	54337938	0.063000	0.20901	0.952000	0.39060	0.705000	0.40729	2.407000	0.44565	2.001000	0.58596	0.594000	0.82650	ACG		0.448	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		A	54321213	G	A	54321213	3	1	369	1	0	0	0	0	1	0	0	0	17379	1145	40	1	4004	1	WNK3	23	54321213	Missense_Mutation	SNP	G	TCGA-30-1891-01A-01W-0699-08		54321213	100949347	66	20395											
XKRX	402415	broad.mit.edu	37	X	100169657	100169657	+	Silent	SNP	G	G	T	rs61740851	byFrequency	TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chrX:100169657G>T	ENST00000372956.2	-	3	1624	c.1020C>A	c.(1018-1020)gtC>gtA	p.V340V	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000328526.5_Silent_p.V353V			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	340				V -> A (in Ref. 3; BAG59304). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V353V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GCCCTTTGTCGACGAGATCTC	0.483																																																1	Substitution - coding silent(1)	ovary(1)	X											172	158	163					X																	100169657		2203	4300	6503	100056313	SO:0001819	synonymous_variant	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1020C>A	X.37:g.100169657G>T			100056313	B2RNN6|B4DKU2|Q5H9J6	Silent	SNP	ENST00000372956.2	37	CCDS14476.2																																																																																				0.483	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		T	100169657	G	T	100169657	2	4	369	1	0	0	0	0	0	0	0	1	17439	1045	37	3		3	XKRX	23	100169657	Silent	SNP	G	TCGA-30-1891-01A-01W-0699-08	45848444	100169657	55100903	67	20396											
DCAF12L2	340578	broad.mit.edu	37	X	125299722	125299722	+	Silent	SNP	C	C	A			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chrX:125299722C>A	ENST00000360028.2	-	1	212	c.186G>T	c.(184-186)gcG>gcT	p.A62A	DCAF12L2_ENST00000538699.1_Silent_p.A62A			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	62								p.A62A(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGGGCCCCGCGCTCCTACCT	0.731																																																1	Substitution - coding silent(1)	ovary(1)	X											14	18	17					X																	125299722		2159	4171	6330	125127403	SO:0001819	synonymous_variant	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.186G>T	X.37:g.125299722C>A			125127403	B2RN42	Silent	SNP	ENST00000360028.2	37	CCDS43991.1																																																																																				0.731	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		A	125299722	C	A	125299722	2	1	369	1	0	0	0	0	0	0	0	1	4265	755	27	3		3	DCAF12L2	23	125299722	Silent	SNP	C	TCGA-30-1891-01A-01W-0699-08	25130065	125299722	29970838	68	20397											
BCORL1	63035	broad.mit.edu	37	X	129149426	129149441	+	Frame_Shift_Del	DEL	GCTCCTTCGTTCCAGA	GCTCCTTCGTTCCAGA	-			TCGA-30-1891-01A-01W-0699-08	TCGA-30-1891-10A-01W-0699-08	GCTCCTTCGTTCCAGA	GCTCCTTCGTTCCAGA					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a3e426c7-beaf-40c6-88a0-092582340145	f211fd01-3141-43e2-aa48-88345b08a70f	g.chrX:129149426_129149441delGCTCCTTCGTTCCAGA	ENST00000218147.7	+	4	2875_2890	c.2678_2693delGCTCCTTCGTTCCAGA	c.(2677-2694)ggctccttcgttccagagfs	p.GSFVPE893fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.GSFVPE893fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.GSFVPE893fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.GSFVPE893fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	893					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S894fs*26(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CGGCCTGGGGGCTCCTTCGTTCCAGAGCAGGACCCT	0.565																																																1	Deletion - Frameshift(1)	ovary(1)	X																																								128977122	SO:0001589	frameshift_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2678_2693delGCTCCTTCGTTCCAGA	X.37:g.129149426_129149441delGCTCCTTCGTTCCAGA	ENSP00000218147:p.Gly893fs		128977107	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	CCDS14616.1																																																																																				0.565	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		-	129149441	GCTCCTTCGTTCCAGA	-	129149426	7	5	369	1	0	1	0	1	0	0	0	0	1387	1203	42	0	2688	0	BCORL1	23	129149426	Frame_Shift_Del	DEL	GCTCCTTCGTTCCAGA	TCGA-30-1891-01A-01W-0699-08	3849704	129149426	26121134	69	20398											
C1orf87	127795	broad.mit.edu	37	1	60505704	60505704	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr1:60505704C>T	ENST00000371201.3	-	5	739	c.632G>A	c.(631-633)gGa>gAa	p.G211E	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	211							calcium ion binding (GO:0005509)	p.G211E(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAAGAAATCCTGAAGAGAT	0.433																																					NSCLC(75;811 1386 4923 13371 51772)											1	Substitution - Missense(1)	ovary(1)	1											105	118	113					1																	60505704		2203	4300	6503	60278292	SO:0001583	missense	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.632G>A	1.37:g.60505704C>T	ENSP00000360244:p.Gly211Glu		60278292	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878538	0.72294	.	.	ENSG00000162598	ENST00000371201	T	0.63255	-0.03	5.18	5.18	0.71444	EF-hand-like domain (1);	0.000000	0.52532	D	0.000067	T	0.72930	0.3522	M	0.63843	1.955	0.80722	D	1	P	0.42785	0.79	P	0.54401	0.751	T	0.75178	-0.3409	10	0.87932	D	0	-22.3915	15.7235	0.77732	0.0:1.0:0.0:0.0	.	211	Q8N0U7	CA087_HUMAN	E	211	ENSP00000360244:G211E	ENSP00000360244:G211E	G	-	2	0	C1orf87	60278292	0.987000	0.35691	1.000000	0.80357	0.775000	0.43874	2.683000	0.46943	2.710000	0.92621	0.650000	0.86243	GGA		0.433	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		T	60505704	C	T	60505704	3	4	370	1	0	0	0	0	1	0	0	0	2064	855	30	2	1040	2	C1orf87	1	60505704	Missense_Mutation	SNP	C	TCGA-31-1950-01A-01W-0699-08		60505704	188744917	1	20399											
RPRD2	23248	broad.mit.edu	37	1	150443802	150443802	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr1:150443802G>A	ENST00000369068.4	+	11	2382	c.2378G>A	c.(2377-2379)gGt>gAt	p.G793D	RPRD2_ENST00000539519.1_Missense_Mutation_p.G767D|RPRD2_ENST00000401000.4_Missense_Mutation_p.G767D|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	793	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.G793D(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGACCCTTTGGTCTGGGCAGT	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											80	73	75					1																	150443802		1880	4112	5992	148710426	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2378G>A	1.37:g.150443802G>A	ENSP00000358064:p.Gly793Asp		148710426	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319831	0.60634	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.59772	0.3;0.24;0.3	5.0	5.0	0.66597	.	0.134498	0.49916	D	0.000140	T	0.49881	0.1583	L	0.27053	0.805	0.36667	D	0.878279	D;D;D	0.57257	0.964;0.964;0.979	P;P;P	0.53518	0.452;0.539;0.728	T	0.55347	-0.8155	10	0.54805	T	0.06	-10.1098	18.5409	0.91027	0.0:0.0:1.0:0.0	.	767;793;767	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	D	767;767;793	ENSP00000383785:G767D;ENSP00000445482:G767D;ENSP00000358064:G793D	ENSP00000358064:G793D	G	+	2	0	RPRD2	148710426	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.757000	0.55212	2.608000	0.88229	0.650000	0.86243	GGT		0.498	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		A	150443802	G	A	150443802	3	1	370	1	0	0	0	0	1	0	0	0	13620	1261	44	2	2420	2	RPRD2	1	150443802	Missense_Mutation	SNP	G	TCGA-31-1950-01A-01W-0699-08	89938098	150443802	98806819	2	20400											
C1orf95	375057	broad.mit.edu	37	1	226784593	226784593	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr1:226784593C>A	ENST00000366788.3	+	2	398	c.293C>A	c.(292-294)gCa>gAa	p.A98E	C1orf95_ENST00000366789.4_Missense_Mutation_p.A98E	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	98						integral component of membrane (GO:0016021)		p.A98E(1)		large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CTGAACATTGCAGCAGCCCTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											164	142	149					1																	226784593		2203	4300	6503	224851216	SO:0001583	missense	375057			AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.293C>A	1.37:g.226784593C>A	ENSP00000355752:p.Ala98Glu		224851216	A6NGL2	Missense_Mutation	SNP	ENST00000366788.3	37	CCDS31044.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039429	0.93630	.	.	ENSG00000203685	ENST00000366788;ENST00000366789	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.76380	-0.2980	9	0.66056	D	0.02	-0.1126	19.3828	0.94543	0.0:1.0:0.0:0.0	.	98	Q69YW2	CA095_HUMAN	E	98	.	ENSP00000355752:A98E	A	+	2	0	C1orf95	224851216	1.000000	0.71417	0.752000	0.31206	0.852000	0.48524	7.730000	0.84881	2.669000	0.90835	0.561000	0.74099	GCA		0.592	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665		A	226784593	C	A	226784593	3	1	370	1	0	0	0	0	1	0	0	0	2072	710	25	3	299	3	C1orf95	1	226784593	Missense_Mutation	SNP	C	TCGA-31-1950-01A-01W-0699-08	76340791	226784593	22466028	3	20401											
GALNT13	114805	broad.mit.edu	37	2	155306936	155306936	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr2:155306936G>A	ENST00000392825.3	+	13	2111	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	515	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R515Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTCACGTTGCGACATGTTAAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											116	101	106					2																	155306936		2203	4300	6503	155015182	SO:0001583	missense	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1544G>A	2.37:g.155306936G>A	ENSP00000376570:p.Arg515Gln		155015182	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848226	0.32699	.	.	ENSG00000144278	ENST00000392825	T	0.77489	-1.1	6.03	4.25	0.50352	Ricin B-related lectin (1);Ricin B lectin (3);	0.107611	0.64402	D	0.000006	T	0.64843	0.2635	L	0.39147	1.195	0.80722	D	1	B	0.15930	0.015	B	0.13407	0.009	T	0.55642	-0.8109	10	0.24483	T	0.36	.	5.8406	0.18630	0.158:0.0:0.6873:0.1547	.	515	Q8IUC8	GLT13_HUMAN	Q	515	ENSP00000376570:R515Q	ENSP00000376570:R515Q	R	+	2	0	GALNT13	155015182	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.342000	0.59341	0.901000	0.36495	0.650000	0.86243	CGA		0.403	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		A	155306936	G	A	155306936	3	1	370	1	0	0	0	0	1	0	0	0	6211	1058	37	1	1586	1	GALNT13	2	155306936	Missense_Mutation	SNP	G	TCGA-31-1950-01A-01W-0699-08		155306936	87892437	4	20402											
PAX3	5077	broad.mit.edu	37	2	223160323	223160323	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr2:223160323G>C	ENST00000350526.4	-	3	511	c.375C>G	c.(373-375)aaC>aaG	p.N125K	PAX3_ENST00000258387.5_Missense_Mutation_p.N125K|PAX3_ENST00000392069.2_Missense_Mutation_p.N125K|PAX3_ENST00000409551.3_Missense_Mutation_p.N124K|PAX3_ENST00000344493.4_Missense_Mutation_p.N125K|PAX3_ENST00000392070.2_Missense_Mutation_p.N125K|PAX3_ENST00000336840.6_Missense_Mutation_p.N125K|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000409828.3_Missense_Mutation_p.N125K	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	125	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N125K(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATGCCCGGGTTCTCTCTTT	0.542			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	ovary(1)	2											136	127	130					2																	223160323		2203	4300	6503	222868567	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.375C>G	2.37:g.223160323G>C	ENSP00000343052:p.Asn125Lys		222868567	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264550	0.59431	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99388	-5.81;-5.81;-5.81;-5.81;-5.81;-5.81;-5.81;-5.81	5.71	4.73	0.59995	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.124234	0.64402	D	0.000001	D	0.99315	0.9760	M	0.89163	3.01	0.58432	D	0.999995	P;D;D;P;P;D;P	0.60575	0.926;0.988;0.961;0.617;0.81;0.98;0.696	P;P;P;B;B;P;B	0.60609	0.825;0.877;0.491;0.25;0.16;0.768;0.115	D	0.98505	1.0616	10	0.87932	D	0	.	12.9266	0.58264	0.1087:0.0:0.8913:0.0	.	125;125;125;124;125;125;125	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	K	125;125;125;125;125;124;125;125	ENSP00000375921:N125K;ENSP00000342092:N125K;ENSP00000343052:N125K;ENSP00000375922:N125K;ENSP00000338767:N125K;ENSP00000386750:N124K;ENSP00000386817:N125K;ENSP00000258387:N125K	ENSP00000258387:N125K	N	-	3	2	PAX3	222868567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.080000	0.41586	2.694000	0.91930	0.655000	0.94253	AAC		0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			C	223160323	G	C	223160323	3	2	370	1	0	0	0	0	1	0	0	0	11480	1252	44	3	1303	3	PAX3	2	223160323	Missense_Mutation	SNP	G	TCGA-31-1950-01A-01W-0699-08	67853387	223160323	20039050	5	20403											
ZFP42	132625	broad.mit.edu	37	4	188924260	188924260	+	Missense_Mutation	SNP	A	A	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr4:188924260A>C	ENST00000326866.4	+	4	707	c.299A>C	c.(298-300)aAa>aCa	p.K100T	ZFP42_ENST00000509524.1_Missense_Mutation_p.K100T	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	100					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K100T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TACCTAAAGAAAGGATCAGAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	4											81	85	83					4																	188924260		2203	4300	6503	189161254	SO:0001583	missense	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.299A>C	4.37:g.188924260A>C	ENSP00000317686:p.Lys100Thr		189161254	D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320911	0.23994	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.63580	-0.05;-0.05	4.11	2.93	0.34026	.	0.164149	0.38005	U	0.001850	T	0.43919	0.1269	L	0.36672	1.1	0.09310	N	1	B	0.33694	0.421	B	0.29785	0.107	T	0.21415	-1.0246	10	0.29301	T	0.29	.	5.6476	0.17598	0.788:0.0:0.212:0.0	.	100	Q96MM3	ZFP42_HUMAN	T	100	ENSP00000317686:K100T;ENSP00000424662:K100T	ENSP00000317686:K100T	K	+	2	0	ZFP42	189161254	0.003000	0.15002	0.002000	0.10522	0.004000	0.04260	1.805000	0.38883	0.919000	0.36945	0.533000	0.62120	AAA		0.403	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		C	188924260	A	C	188924260	3	2	370	1	0	0	0	0	1	0	0	0	17650	14	1	5	301	5	ZFP42	4	188924260	Missense_Mutation	SNP	A	TCGA-31-1950-01A-01W-0699-08		188924260	2230016	6	20404											
STK38	11329	broad.mit.edu	37	6	36466139	36466139	+	Splice_Site	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr6:36466139C>T	ENST00000229812.7	-	11	1362		c.e11+1			NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.?(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTCTAATACCTCAAAATTA	0.363																																					Colon(180;997 3561 16158)											1	Unknown(1)	ovary(1)	6											122	125	124					6																	36466139		2203	4300	6503	36574117	SO:0001630	splice_region_variant	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.1076+1G>A	6.37:g.36466139C>T			36574117		Splice_Site	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455271	0.84209	.	.	ENSG00000112079	ENST00000229812	.	.	.	5.91	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0464	0.71830	0.0:0.9321:0.0:0.0679	.	.	.	.	.	-1	.	.	.	-	.	.	STK38	36574117	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.814000	0.86154	1.517000	0.48917	0.650000	0.86243	.		0.363	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271	Intron	T	36466139	C	T	36466139	5	4	370	1	0	0	0	0	0	0	1	0	15305	521	18	2	336	2	STK38	6	36466139	Splice_Site	SNP	C	TCGA-31-1950-01A-01W-0699-08		36466139	134648928	7	20405											
MAS1	4142	broad.mit.edu	37	6	160328045	160328045	+	Missense_Mutation	SNP	G	G	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr6:160328045G>T	ENST00000252660.4	+	1	72	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	20					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.G20C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CATCTCAACTGGCAGGAACGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	6											124	116	119					6																	160328045		2203	4300	6503	160248035	SO:0001583	missense	4142			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.58G>T	6.37:g.160328045G>T	ENSP00000252660:p.Gly20Cys		160248035	E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335915	0.24253	.	.	ENSG00000130368	ENST00000252660	T	0.20332	2.08	5.23	-10.5	0.00291	.	1.634530	0.03684	N	0.246010	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30297	-0.9983	10	0.54805	T	0.06	.	6.2277	0.20718	0.1219:0.2818:0.5153:0.081	.	20	P04201	MAS_HUMAN	C	20	ENSP00000252660:G20C	ENSP00000252660:G20C	G	+	1	0	MAS1	160248035	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.567000	0.02146	-2.572000	0.00467	-1.799000	0.00621	GGC		0.493	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		T	160328045	G	T	160328045	3	4	370	1	0	0	0	0	1	0	0	0	9320	1348	47	3	60	3	MAS1	6	160328045	Missense_Mutation	SNP	G	TCGA-31-1950-01A-01W-0699-08	123861906	160328045	10787022	8	20406											
C7orf64	84060	broad.mit.edu	37	7	92164260	92164260	+	Silent	SNP	T	T	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr7:92164260T>C	ENST00000265732.5	+	4	1034	c.993T>C	c.(991-993)aaT>aaC	p.N331N	RBM48_ENST00000481551.1_Silent_p.N331N	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	331						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.N331N(1)									CAACGGCGAATTTAATTCGGC	0.338																																																1	Substitution - coding silent(1)	ovary(1)	7											43	42	42					7																	92164260		1824	4079	5903	92002196	SO:0001819	synonymous_variant	84060			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.993T>C	7.37:g.92164260T>C			92002196	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	CCDS43615.1																																																																																				0.338	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		C	92164260	T	C	92164260	2	2	370	1	0	0	0	0	0	0	0	1	2410	1490	52	4		4	C7orf64	7	92164260	Silent	SNP	T	TCGA-31-1950-01A-01W-0699-08		92164260	66974403	9	20407											
CCDC6	8030	broad.mit.edu	37	10	61552776	61552776	+	Missense_Mutation	SNP	G	G	A	rs199549238		TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr10:61552776G>A	ENST00000263102.6	-	9	1555	c.1324C>T	c.(1324-1326)Ccg>Tcg	p.P442S		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	442	Poly-Pro.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)	p.P442S(1)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GGTGGAGGCGGAGGTGGCTGG	0.637			T	RET	NSCLC																																		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	1	Substitution - Missense(1)	ovary(1)	10											164	153	157					10																	61552776		2203	4300	6503	61222782	SO:0001583	missense	8030			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1324C>T	10.37:g.61552776G>A	ENSP00000263102:p.Pro442Ser		61222782	Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197594	0.58126	.	.	ENSG00000108091	ENST00000263102	T	0.44482	0.92	5.6	5.6	0.85130	.	0.103596	0.64402	D	0.000002	T	0.33118	0.0852	L	0.36672	1.1	0.80722	D	1	B	0.30793	0.295	B	0.29267	0.1	T	0.17198	-1.0377	10	0.02654	T	1	-9.6528	19.9854	0.97342	0.0:0.0:1.0:0.0	.	442	Q16204	CCDC6_HUMAN	S	442	ENSP00000263102:P442S	ENSP00000263102:P442S	P	-	1	0	CCDC6	61222782	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	9.420000	0.97426	2.786000	0.95864	0.563000	0.77884	CCG		0.637	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		A	61552776	G	A	61552776	3	1	370	1	0	0	0	0	1	0	0	0	2830	1174	41	2	104	2	CCDC6	10	61552776	Missense_Mutation	SNP	G	TCGA-31-1950-01A-01W-0699-08		61552776	73981971	10	20408											
KCNJ1	3758	broad.mit.edu	37	11	128709604	128709604	+	Missense_Mutation	SNP	C	C	T	rs104894253		TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr11:128709604C>T	ENST00000392664.2	-	2	708	c.592G>A	c.(592-594)Gca>Aca	p.A198T	KCNJ1_ENST00000392665.2_Missense_Mutation_p.A179T|KCNJ1_ENST00000440599.2_Missense_Mutation_p.A179T|KCNJ1_ENST00000392666.1_Missense_Mutation_p.A179T|KCNJ1_ENST00000324036.3_Missense_Mutation_p.A179T	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	198			A -> T (in BS2). {ECO:0000269|PubMed:9002665}.		cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A198T(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CTGATCACTGCGTTCTTGCTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	11	GRCh37	CM970812	KCNJ1	M	rs104894253						82	76	78					11																	128709604		2199	4291	6490	128214814	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.592G>A	11.37:g.128709604C>T	ENSP00000376432:p.Ala198Thr		128214814	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502723	0.85176	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	5.71	5.71	0.89125	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99104	1.0844	10	0.87932	D	0	.	19.8655	0.96803	0.0:1.0:0.0:0.0	.	198	P48048	IRK1_HUMAN	T	179;179;179;179;198	ENSP00000376433:A179T;ENSP00000376434:A179T;ENSP00000406320:A179T;ENSP00000316233:A179T;ENSP00000376432:A198T	ENSP00000316233:A179T	A	-	1	0	KCNJ1	128214814	1.000000	0.71417	0.344000	0.25628	0.599000	0.36880	7.805000	0.86005	2.690000	0.91761	0.514000	0.50259	GCA		0.458	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		T	128709604	C	T	128709604	3	4	370	1	0	0	0	0	1	0	0	0	8043	768	27	1	587	1	KCNJ1	11	128709604	Missense_Mutation	SNP	C	TCGA-31-1950-01A-01W-0699-08		128709604	6296912	11	20409											
ATXN2	6311	broad.mit.edu	37	12	111908043	111908043	+	Splice_Site	SNP	T	T	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr12:111908043T>C	ENST00000377617.3	-	20	3346	c.3185A>G	c.(3184-3186)cAt>cGt	p.H1062R	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000608853.1_Splice_Site_p.H902R|ATXN2_ENST00000535949.1_Splice_Site_p.H773R|ATXN2_ENST00000389153.4_Splice_Site_p.H799R|ATXN2_ENST00000542287.2_Splice_Site_p.H797R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1062	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.H1062R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GACATGAGGATGCTGTGTTCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	12											132	112	119					12																	111908043		2203	4300	6503	110392426	SO:0001630	splice_region_variant	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3184-1A>G	12.37:g.111908043T>C			110392426	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.036070	0.35893	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949	T	0.64260	-0.09	5.46	4.29	0.51040	.	0.219434	0.47852	D	0.000212	T	0.47192	0.1432	N	0.22421	0.69	0.80722	D	1	B;B;P;B;P	0.47302	0.118;0.167;0.791;0.209;0.893	B;B;B;B;B	0.42653	0.179;0.062;0.263;0.124;0.394	T	0.30707	-0.9969	10	0.15952	T	0.53	-6.8995	12.967	0.58490	0.0:0.0:0.1349:0.8651	.	81;1062;773;797;799	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	R	117;799;1062;81;797;773	ENSP00000366843:H1062R	ENSP00000366843:H1062R	H	-	2	0	ATXN2	110392426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.903000	0.39858	0.974000	0.38366	0.477000	0.44152	CAT		0.398	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	Missense_Mutation	C	111908043	T	C	111908043	5	2	370	1	0	0	0	0	0	0	1	0	1211	1478	51	4	780	4	ATXN2	12	111908043	Splice_Site	SNP	T	TCGA-31-1950-01A-01W-0699-08		111908043	21943852	12	20410											
CREBBP	1387	broad.mit.edu	37	16	3788596	3788596	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr16:3788596A>G	ENST00000262367.5	-	26	5167	c.4358T>C	c.(4357-4359)aTc>aCc	p.I1453T	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1415T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1453	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I1453T(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCAATAAGGATCTCATGGTA	0.383			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	ovary(1)	16											75	70	72					16																	3788596		2197	4300	6497	3728597	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4358T>C	16.37:g.3788596A>G	ENSP00000262367:p.Ile1453Thr		3728597	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	19.34	3.809700	0.70797	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93426	-3.22;-3.22	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.996	D	0.98290	1.0513	10	0.87932	D	0	-22.8561	15.8518	0.78937	1.0:0.0:0.0:0.0	.	1483;1453	Q4LE28;Q92793	.;CBP_HUMAN	T	1453;1483;1415;42	ENSP00000262367:I1453T;ENSP00000371502:I1415T	ENSP00000262367:I1453T	I	-	2	0	CREBBP	3728597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.215000	0.71742	0.459000	0.35465	ATC		0.383	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		G	3788596	A	G	3788596	3	3	370	1	0	0	0	0	1	0	0	0	3861	333	12	4	2994	4	CREBBP	16	3788596	Missense_Mutation	SNP	A	TCGA-31-1950-01A-01W-0699-08		3788596	86566157	13	20411											
CHD9	80205	broad.mit.edu	37	16	53301839	53301839	+	Splice_Site	SNP	G	G	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr16:53301839G>T	ENST00000398510.3	+	21	4605	c.4518G>T	c.(4516-4518)ggG>ggT	p.G1506G	CHD9_ENST00000447540.1_Splice_Site_p.G1506G|CHD9_ENST00000564845.1_Splice_Site_p.G1506G|CHD9_ENST00000566029.1_Splice_Site_p.G1506G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1506					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G1506G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTTTAACCAGGTGGGGCCGAT	0.353																																																1	Substitution - coding silent(1)	ovary(1)	16											76	70	72					16																	53301839		1812	4068	5880	51859340	SO:0001630	splice_region_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4518-1G>T	16.37:g.53301839G>T			51859340	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.353	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	Silent	T	53301839	G	T	53301839	5	4	370	1	0	0	0	0	0	0	1	0	3332	1275	44	3	4600	3	CHD9	16	53301839	Splice_Site	SNP	G	TCGA-31-1950-01A-01W-0699-08	49513243	53301839	37052914	14	20412											
ADAT1	23536	broad.mit.edu	37	16	75651145	75651145	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr16:75651145C>A	ENST00000307921.3	-	6	464	c.319G>T	c.(319-321)Gca>Tca	p.A107S		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	107	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.A107S(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						AGGGTGGCTGCCAACTGGAGT	0.463																																																1	Substitution - Missense(1)	ovary(1)	16											165	165	165					16																	75651145		2198	4300	6498	74208646	SO:0001583	missense	23536			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.319G>T	16.37:g.75651145C>A	ENSP00000310015:p.Ala107Ser		74208646	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	9.196	1.027376	0.19512	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.93953	-3.32	5.59	5.59	0.84812	Adenosine deaminase/editase (3);	0.052499	0.85682	D	0.000000	D	0.92024	0.7473	L	0.51914	1.62	0.58432	D	0.999994	P	0.36110	0.537	B	0.40602	0.334	D	0.89862	0.4017	10	0.22109	T	0.4	-4.5656	18.1617	0.89710	0.0:1.0:0.0:0.0	.	107	Q9BUB4	ADAT1_HUMAN	S	107;78	ENSP00000310015:A107S	ENSP00000310015:A107S	A	-	1	0	ADAT1	74208646	1.000000	0.71417	0.923000	0.36655	0.402000	0.30811	4.977000	0.63792	2.646000	0.89796	0.411000	0.27672	GCA		0.463	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		A	75651145	C	A	75651145	3	1	370	1	0	0	0	0	1	0	0	0	284	739	26	3	1213	3	ADAT1	16	75651145	Missense_Mutation	SNP	C	TCGA-31-1950-01A-01W-0699-08	22349306	75651145	14703608	15	20413											
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	370	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-31-1950-01A-01W-0699-08		7578265	73616945	16	20414											
DLGAP1	9229	broad.mit.edu	37	18	3879897	3879897	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr18:3879897C>T	ENST00000315677.3	-	4	767	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	DLGAP1_ENST00000581527.1_Missense_Mutation_p.V58M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.V58M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.V58M|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	58					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.V58M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AAGGGGCCCACGCACTCAGCC	0.672																																																1	Substitution - Missense(1)	ovary(1)	18											52	53	53					18																	3879897		2203	4300	6503	3869897	SO:0001583	missense	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.172G>A	18.37:g.3879897C>T	ENSP00000316377:p.Val58Met		3869897	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983953	0.18889	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.11063	2.81;2.81	5.8	5.8	0.92144	.	0.354251	0.26995	N	0.021452	T	0.04770	0.0129	N	0.04959	-0.14	0.29526	N	0.853106	B;B;B	0.12013	0.001;0.004;0.005	B;B;B	0.12156	0.002;0.006;0.007	T	0.34551	-0.9824	10	0.14656	T	0.56	-9.3751	7.6051	0.28097	0.0:0.8067:0.0:0.1933	.	58;58;58	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	M	58	ENSP00000316377:V58M;ENSP00000445973:V58M	ENSP00000316377:V58M	V	-	1	0	DLGAP1	3869897	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	1.823000	0.39062	2.744000	0.94065	0.655000	0.94253	GTG		0.672	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			T	3879897	C	T	3879897	3	4	370	1	0	0	0	0	1	0	0	0	4559	536	19	1	2856	1	DLGAP1	18	3879897	Missense_Mutation	SNP	C	TCGA-31-1950-01A-01W-0699-08		3879897	74197351	17	20415											
NINL	22981	broad.mit.edu	37	20	25498416	25498416	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr20:25498416C>T	ENST00000278886.6	-	3	323	c.250G>A	c.(250-252)Gat>Aat	p.D84N	NINL_ENST00000422516.1_Missense_Mutation_p.D84N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	84					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.D84N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTCTTCATCTGAGGGGCGA	0.378																																																1	Substitution - Missense(1)	ovary(1)	20											134	115	121					20																	25498416		2203	4300	6503	25446416	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.250G>A	20.37:g.25498416C>T	ENSP00000278886:p.Asp84Asn		25446416	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841809	0.51057	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.26373	1.74;1.74	4.39	3.44	0.39384	.	0.137412	0.48286	D	0.000194	T	0.30479	0.0766	L	0.31664	0.95	0.31637	N	0.648273	D;D	0.56287	0.975;0.965	P;P	0.56343	0.796;0.521	T	0.30357	-0.9981	10	0.62326	D	0.03	-12.553	11.1231	0.48302	0.0:0.9074:0.0:0.0926	.	84;84	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	N	84	ENSP00000278886:D84N;ENSP00000410431:D84N	ENSP00000278886:D84N	D	-	1	0	NINL	25446416	0.982000	0.34865	0.037000	0.18230	0.193000	0.23685	2.688000	0.46984	1.051000	0.40369	0.561000	0.74099	GAT		0.378	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		T	25498416	C	T	25498416	3	4	370	1	0	0	0	0	1	0	0	0	10420	913	32	2	3986	2	NINL	20	25498416	Missense_Mutation	SNP	C	TCGA-31-1950-01A-01W-0699-08		25498416	37527104	18	20416											
FAM65C	140876	broad.mit.edu	37	20	49236588	49236588	+	Silent	SNP	C	C	T	rs113703688		TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr20:49236588C>T	ENST00000327979.2	-	3	603	c.192G>A	c.(190-192)tcG>tcA	p.S64S	FAM65C_ENST00000535356.1_Silent_p.S68S|FAM65C_ENST00000045083.2_Silent_p.S64S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	64								p.S64S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCACAGACCGACCCCTTCC	0.542													C|||	1	0.000199681	8e-04	0	5008	,	,		19933	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	20						C		1,4405	2.1+/-5.4	0,1,2202	100	90	94		192	-6.1	0	20	dbSNP_132	94	0,8600		0,0,4300	no	coding-synonymous	FAM65C	NM_080829.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		64/947	49236588	1,13005	2203	4300	6503	48669995	SO:0001819	synonymous_variant	140876			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.192G>A	20.37:g.49236588C>T			48669995	Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	CCDS13431.2																																																																																				0.542	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			T	49236588	C	T	49236588	2	4	370	1	0	0	0	0	0	0	0	1	5601	639	23	1		1	FAM65C	20	49236588	Silent	SNP	C	TCGA-31-1950-01A-01W-0699-08	23738172	49236588	13788932	19	20417											
ITSN1	6453	broad.mit.edu	37	21	35091159	35091159	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr21:35091159G>C	ENST00000381318.3	+	2	314	c.26G>C	c.(25-27)gGt>gCt	p.G9A	ITSN1_ENST00000399349.1_Missense_Mutation_p.G9A|ITSN1_ENST00000437442.2_Missense_Mutation_p.G9A|ITSN1_ENST00000399326.3_Missense_Mutation_p.G9A|ITSN1_ENST00000399338.4_Missense_Mutation_p.G9A|ITSN1_ENST00000399352.1_Missense_Mutation_p.G9A|ITSN1_ENST00000381285.4_Missense_Mutation_p.G9A|ITSN1_ENST00000399355.2_Missense_Mutation_p.G9A|ITSN1_ENST00000399367.3_Missense_Mutation_p.G9A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.G9A|ITSN1_ENST00000379960.5_Missense_Mutation_p.G9A|ITSN1_ENST00000399353.1_Missense_Mutation_p.G9A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	9					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G9A(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACACCTTTTGGTGGTAAGTTT	0.294																																																1	Substitution - Missense(1)	ovary(1)	21											128	120	123					21																	35091159		2203	4300	6503	34013029	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.26G>C	21.37:g.35091159G>C	ENSP00000370719:p.Gly9Ala		34013029	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809904	0.50421	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000451686;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32272	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.46;1.58;1.58;1.58;1.58;1.58	5.31	5.31	0.75309	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.43152	1.355	0.48830	D	0.999715	B;B;B;B;B;B;B;B;B	0.25521	0.003;0.001;0.001;0.001;0.128;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B;B;B	0.14578	0.001;0.001;0.001;0.001;0.011;0.001;0.001;0.001;0.001	T	0.03000	-1.1084	10	0.36615	T	0.2	.	14.0923	0.65000	0.0:0.1518:0.8482:0.0	.	9;9;9;9;9;9;9;9;9	A8D7D0;A7XZY7;A8CTY7;A8CTY3;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	A	9	ENSP00000382290:G9A;ENSP00000400079:G9A;ENSP00000370719:G9A;ENSP00000370691:G9A;ENSP00000370685:G9A;ENSP00000382301:G9A;ENSP00000382289:G9A;ENSP00000382292:G9A;ENSP00000382286:G9A;ENSP00000407132:G9A;ENSP00000370683:G9A;ENSP00000382275:G9A;ENSP00000387377:G9A;ENSP00000382265:G9A;ENSP00000369294:G9A	ENSP00000369294:G9A	G	+	2	0	ITSN1	34013029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.498000	0.66931	2.504000	0.84457	0.563000	0.77884	GGT		0.294	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		C	35091159	G	C	35091159	3	2	370	1	0	0	0	0	1	0	0	0	7926	1261	44	3	28	3	ITSN1	21	35091159	Missense_Mutation	SNP	G	TCGA-31-1950-01A-01W-0699-08		35091159	13038736	20	20418											
CLTCL1	8218	broad.mit.edu	37	22	19183895	19183895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr22:19183895C>T	ENST00000263200.10	-	26	4145	c.4073G>A	c.(4072-4074)tGg>tAg	p.W1358*	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.W1358*|CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.W1358*	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1358	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.W1358*(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CAGCTCAGCCCACAGGTGTGC	0.597			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - Nonsense(1)	ovary(1)	22											95	97	96					22																	19183895		2179	4272	6451	17563895	SO:0001587	stop_gained	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4073G>A	22.37:g.19183895C>T	ENSP00000445677:p.Trp1358*		17563895	B7Z7U5|Q14017|Q15808|Q15809	Nonsense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	43	10.269140	0.99372	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	.	.	.	3.57	3.57	0.40892	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4124	15.336	0.74255	0.0:1.0:0.0:0.0	.	.	.	.	X	1358	.	ENSP00000445677:W1358X	W	-	2	0	CLTCL1	17563895	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.944000	0.75940	1.829000	0.53265	0.491000	0.48974	TGG		0.597	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		T	19183895	C	T	19183895	4	4	370	1	0	0	0	0	0	1	0	0	3567	595	21	2	877	2	CLTCL1	22	19183895	Nonsense_Mutation	SNP	C	TCGA-31-1950-01A-01W-0699-08		19183895	32120671	21	20419											
PDIK1L	149420	broad.mit.edu	37	1	26448529	26448529	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr1:26448529C>G	ENST00000374271.4	+	4	774	c.487C>G	c.(487-489)Cga>Gga	p.R163G	PDIK1L_ENST00000374269.1_Missense_Mutation_p.R163G	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R163R(1)|p.R163G(1)		large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GATCATCCACCGAGATCTTAA	0.443																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	1											132	129	130					1																	26448529		2203	4300	6503	26321116	SO:0001583	missense	149420			AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.487C>G	1.37:g.26448529C>G	ENSP00000363389:p.Arg163Gly		26321116	B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	CCDS274.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102284	0.76983	.	.	ENSG00000175087	ENST00000444713;ENST00000374271;ENST00000374269	T;T;T	0.40225	1.04;1.04;1.04	5.96	5.96	0.96718	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	M	0.73217	2.22	0.58432	D	0.999995	D	0.61080	0.989	D	0.67382	0.951	T	0.66224	-0.5977	10	0.87932	D	0	-11.9126	20.0112	0.97449	0.0:1.0:0.0:0.0	.	163	Q8N165	PDK1L_HUMAN	G	163	ENSP00000406510:R163G;ENSP00000363389:R163G;ENSP00000363387:R163G	ENSP00000363387:R163G	R	+	1	2	PDIK1L	26321116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.527000	0.45615	2.826000	0.97356	0.655000	0.94253	CGA		0.443	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		G	26448529	C	G	26448529	3	3	371	1	0	0	0	0	1	0	0	0	11673	644	23	3	493	3	PDIK1L	1	26448529	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08		26448529	222802092	1	20420											
LRRIQ3	127255	broad.mit.edu	37	1	74507353	74507353	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr1:74507353C>G	ENST00000395089.1	-	6	1261	c.1262G>C	c.(1261-1263)aGt>aCt	p.S421T	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.S421T			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	421								p.S421T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTCAATATCACTAAATGTTCG	0.368																																																1	Substitution - Missense(1)	ovary(1)	1											150	137	141					1																	74507353		1845	4082	5927	74279941	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1262G>C	1.37:g.74507353C>G	ENSP00000378524:p.Ser421Thr		74279941	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	7.112	0.576286	0.13686	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.08193	3.12;3.12	5.77	-11.5	0.00074	.	1.219230	0.05930	N	0.635054	T	0.00936	0.0031	N	0.14661	0.345	0.09310	N	1	B	0.18166	0.026	B	0.14023	0.01	T	0.43766	-0.9371	10	0.13853	T	0.58	.	8.3414	0.32245	0.2542:0.104:0.0:0.6418	.	421	A6PVS8	LRIQ3_HUMAN	T	421	ENSP00000378524:S421T;ENSP00000346414:S421T	ENSP00000346414:S421T	S	-	2	0	LRRIQ3	74279941	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.697000	0.05098	-1.840000	0.01184	-1.350000	0.01237	AGT		0.368	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		G	74507353	C	G	74507353	3	3	371	1	0	0	0	0	1	0	0	0	9030	565	20	3	620	3	LRRIQ3	1	74507353	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08	48058824	74507353	174743268	2	20421											
PDE4DIP	9659	broad.mit.edu	37	1	144952200	144952200	+	Splice_Site	SNP	C	C	T			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr1:144952200C>T	ENST00000369354.3	-	4	708		c.e4+1		PDE4DIP_ENST00000369349.3_Splice_Site|PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369348.3_Silent_p.K310K|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000369351.3_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000369347.4_Silent_p.K173K|PDE4DIP_ENST00000369359.4_Splice_Site			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGCACCTACTTGTCCCTCT	0.522			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Unknown(1)	ovary(1)	1											171	180	177					1																	144952200		2203	4300	6503	143663557	SO:0001630	splice_region_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.518+1G>A	1.37:g.144952200C>T			143663557	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Splice_Site	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907257	0.72868	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7826	0.69776	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE4DIP	143663557	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	5.235000	0.65348	2.339000	0.79563	0.555000	0.69702	.		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Intron	T	144952200	C	T	144952200	5	4	371	1	0	0	0	0	0	0	1	0	11643	579	20	2	7828	2	PDE4DIP	1	144952200	Splice_Site	SNP	C	TCGA-31-1953-01A-01W-0699-08	70444847	144952200	104298421	3	20422											
SPTA1	6708	broad.mit.edu	37	1	158613212	158613212	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr1:158613212C>A	ENST00000368147.4	-	31	4522	c.4342G>T	c.(4342-4344)Ggg>Tgg	p.G1448W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1448					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G1448W(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGATCTTCCCTTCCTAAATA	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											91	87	88					1																	158613212		1883	4113	5996	156879836	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4342G>T	1.37:g.158613212C>A	ENSP00000357129:p.Gly1448Trp		156879836	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842853	0.71488	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36699	1.24;1.24	4.92	3.95	0.45737	.	1.563810	0.04634	N	0.404234	T	0.38585	0.1046	L	0.46157	1.445	0.41372	D	0.987493	P	0.52316	0.952	D	0.63957	0.92	T	0.26087	-1.0113	10	0.72032	D	0.01	.	6.6192	0.22794	0.0:0.8276:0.0:0.1724	.	1448	P02549	SPTA1_HUMAN	W	1448	ENSP00000357130:G1448W;ENSP00000357129:G1448W	ENSP00000357129:G1448W	G	-	1	0	SPTA1	156879836	1.000000	0.71417	0.968000	0.41197	0.974000	0.67602	4.319000	0.59197	1.270000	0.44297	0.655000	0.94253	GGG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158613212	C	A	158613212	3	1	371	1	0	0	0	0	1	0	0	0	15118	681	24	3	3005	3	SPTA1	1	158613212	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08	13661012	158613212	90637409	4	20423											
B3GALT2	8707	broad.mit.edu	37	1	193149834	193149834	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr1:193149834C>T	ENST00000367434.4	-	2	1614	c.859G>A	c.(859-861)Gca>Aca	p.A287T	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	287					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.A287T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CGATTGGGTGCATATCCTCGC	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											153	140	145					1																	193149834		2203	4300	6503	191416457	SO:0001583	missense	8707			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.859G>A	1.37:g.193149834C>T	ENSP00000356404:p.Ala287Thr		191416457	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885824	0.72410	.	.	ENSG00000162630	ENST00000367434	D	0.84800	-1.9	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	L	0.41236	1.265	0.80722	D	1	P	0.47677	0.899	P	0.48873	0.593	T	0.81267	-0.1010	10	0.20046	T	0.44	.	18.8791	0.92350	0.0:1.0:0.0:0.0	.	287	O43825	B3GT2_HUMAN	T	287	ENSP00000356404:A287T	ENSP00000356404:A287T	A	-	1	0	B3GALT2	191416457	1.000000	0.71417	0.967000	0.41034	0.973000	0.67179	4.692000	0.61746	2.451000	0.82905	0.650000	0.86243	GCA		0.413	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		T	193149834	C	T	193149834	3	4	371	1	0	0	0	0	1	0	0	0	1248	710	25	2	413	2	B3GALT2	1	193149834	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08	34536622	193149834	56100787	5	20424											
PRELP	5549	broad.mit.edu	37	1	203453266	203453266	+	Silent	SNP	C	C	T			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr1:203453266C>T	ENST00000343110.2	+	2	1081	c.954C>T	c.(952-954)ctC>ctT	p.L318L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	318					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.L318L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGTACCTCAACAACAATA	0.562																																																2	Substitution - coding silent(2)	urinary_tract(1)|ovary(1)	1											27	30	29					1																	203453266		2186	4241	6427	201719889	SO:0001819	synonymous_variant	5549			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.954C>T	1.37:g.203453266C>T			201719889	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1																																																																																				0.562	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		T	203453266	C	T	203453266	2	4	371	1	0	0	0	0	0	0	0	1	12476	813	29	2		2	PRELP	1	203453266	Silent	SNP	C	TCGA-31-1953-01A-01W-0699-08	10303432	203453266	45797355	6	20425											
ZNF445	353274	broad.mit.edu	37	3	44496655	44496655	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr3:44496655C>G	ENST00000396077.2	-	3	734	c.387G>C	c.(385-387)ttG>ttC	p.L129F	ZNF445_ENST00000425708.2_Missense_Mutation_p.L129F	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	129	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L129F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GCTCCTCCAGCAAGGCCACAG	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											66	59	61					3																	44496655		2203	4300	6503	44471659	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.387G>C	3.37:g.44496655C>G	ENSP00000379387:p.Leu129Phe		44471659	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.74|15.74	2.923856|2.923856	0.52653|0.52653	.|.	.|.	ENSG00000185219|ENSG00000185219	ENST00000340674;ENST00000430301|ENST00000425708;ENST00000396077	.|T;T	.|0.08720	.|3.06;3.06	4.45|4.45	3.5|3.5	0.40072|0.40072	.|Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.|0.256400	.|0.20601	.|N	.|0.089145	T|T	0.25791|0.25791	0.0628|0.0628	M|M	0.81239|0.81239	2.535|2.535	0.35391|0.35391	D|D	0.790759|0.790759	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.68483	.|0.958;0.958	T|T	0.20338|0.20338	-1.0278|-1.0278	6|10	0.72032|0.72032	D|D	0.01|0.01	.|.	9.1895|9.1895	0.37191|0.37191	0.2164:0.7836:0.0:0.0|0.2164:0.7836:0.0:0.0	.|.	.|129;129	.|B7ZKX2;P59923	.|.;ZN445_HUMAN	S|F	125;128|129	.|ENSP00000413073:L129F;ENSP00000379387:L129F	ENSP00000342436:C125S|ENSP00000379387:L129F	C|L	-|-	2|3	0|2	ZNF445|ZNF445	44471659|44471659	0.740000|0.740000	0.28207|0.28207	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	0.589000|0.589000	0.23939|0.23939	2.478000|2.478000	0.83669|0.83669	0.563000|0.563000	0.77884|0.77884	TGC|TTG		0.607	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		G	44496655	C	G	44496655	3	3	371	1	0	0	0	0	1	0	0	0	17918	709	25	3	2732	3	ZNF445	3	44496655	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08		44496655	153525775	7	20426											
COL6A6	131873	broad.mit.edu	37	3	130282256	130282256	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr3:130282256G>C	ENST00000358511.6	+	2	440	c.409G>C	c.(409-411)Gtc>Ctc	p.V137L	COL6A6_ENST00000453409.2_Missense_Mutation_p.V137L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	137	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V137L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATTCTAGTGGTCCTGGCTTC	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											45	45	45					3																	130282256		1903	4116	6019	131764946	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.409G>C	3.37:g.130282256G>C	ENSP00000351310:p.Val137Leu		131764946	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700238	0.68501	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.73897	-0.79;-0.79	5.21	5.21	0.72293	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000070	T	0.74981	0.3788	L	0.39467	1.215	0.37982	D	0.933627	D	0.52996	0.957	P	0.54401	0.751	T	0.73675	-0.3908	10	0.24483	T	0.36	.	14.7195	0.69294	0.0:0.0:0.8546:0.1454	.	137	A6NMZ7	CO6A6_HUMAN	L	137	ENSP00000351310:V137L;ENSP00000399236:V137L	ENSP00000351310:V137L	V	+	1	0	COL6A6	131764946	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.962000	0.63687	2.585000	0.87301	0.561000	0.74099	GTC		0.502	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		C	130282256	G	C	130282256	3	2	371	1	0	0	0	0	1	0	0	0	3703	1261	44	3	415	3	COL6A6	3	130282256	Missense_Mutation	SNP	G	TCGA-31-1953-01A-01W-0699-08	85785601	130282256	67740174	8	20427											
MME	4311	broad.mit.edu	37	3	154864982	154864982	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr3:154864982A>G	ENST00000460393.1	+	15	1586	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	MME_ENST00000462745.1_Missense_Mutation_p.N489S|MME_ENST00000360490.2_Missense_Mutation_p.N489S|MME_ENST00000492661.1_Missense_Mutation_p.N489S|MME_ENST00000493237.1_Missense_Mutation_p.N489S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	489					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.N489S(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ATTGTTTCAAATGATAACAAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	3											81	86	84					3																	154864982		2203	4300	6503	156347676	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1466A>G	3.37:g.154864982A>G	ENSP00000418525:p.Asn489Ser		156347676	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700926	0.48307	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.84	5.84	0.93424	.	0.323933	0.37012	N	0.002283	T	0.78240	0.4252	L	0.52905	1.665	0.21386	N	0.999707	B	0.12013	0.005	B	0.08055	0.003	T	0.69960	-0.5003	10	0.62326	D	0.03	-22.9121	16.2159	0.82217	1.0:0.0:0.0:0.0	.	489	P08473	NEP_HUMAN	S	489	ENSP00000420389:N489S;ENSP00000418525:N489S;ENSP00000419653:N489S;ENSP00000417079:N489S;ENSP00000353679:N489S	ENSP00000353679:N489S	N	+	2	0	MME	156347676	0.985000	0.35326	0.056000	0.19401	0.922000	0.55478	7.365000	0.79537	2.243000	0.73865	0.533000	0.62120	AAT		0.323	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		G	154864982	A	G	154864982	3	3	371	1	0	0	0	0	1	0	0	0	9645	101	4	4	1520	4	MME	3	154864982	Missense_Mutation	SNP	A	TCGA-31-1953-01A-01W-0699-08	24582726	154864982	43157448	9	20428											
C3orf59	151963	broad.mit.edu	37	3	192517157	192517157	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr3:192517157C>G	ENST00000392452.2	-	2	814	c.494G>C	c.(493-495)tGc>tCc	p.C165S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	165							protein complex binding (GO:0032403)	p.C163S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TACAATGGTGCAGCAGTCTTT	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											87	86	87					3																	192517157		2203	4300	6503	193999851	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.494G>C	3.37:g.192517157C>G	ENSP00000376246:p.Cys165Ser		193999851	Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837180	0.71373	.	.	ENSG00000180611	ENST00000392452	T	0.47177	0.85	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.63428	1.95	0.80722	D	1	D	0.54772	0.968	D	0.69824	0.966	T	0.57528	-0.7796	10	0.20046	T	0.44	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	165	Q8IYB1	M21D2_HUMAN	S	165	ENSP00000376246:C165S	ENSP00000376246:C165S	C	-	2	0	MB21D2	193999851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	TGC		0.493	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		G	192517157	C	G	192517157	3	3	371	1	0	0	0	0	1	0	0	0	2237	710	25	3	985	3	C3orf59	3	192517157	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08	37652175	192517157	5505273	10	20429											
PPA2	27068	broad.mit.edu	37	4	106374784	106374784	+	Missense_Mutation	SNP	T	T	C	rs138556360		TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr4:106374784T>C	ENST00000341695.5	-	3	268	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000310267.7_Start_Codon_SNP_p.M1V|PPA2_ENST00000348706.5_Missense_Mutation_p.M80V|PPA2_ENST00000357415.4_Missense_Mutation_p.M95V|PPA2_ENST00000380004.2_Missense_Mutation_p.M80V|PPA2_ENST00000432483.2_Intron|PPA2_ENST00000354147.3_Intron	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	80					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)	p.M80V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		GCTTTCTTCATAGGAATGCCA	0.303													T|||	1	0.000199681	0	0	5008	,	,		18679	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4											80	82	81					4																	106374784		2201	4299	6500	106594233	SO:0001583	missense	27068				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.238A>G	4.37:g.106374784T>C	ENSP00000343885:p.Met80Val		106594233	B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	CCDS3667.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	6.037	0.375201	0.11409	.	.	ENSG00000138777	ENST00000341695;ENST00000348706;ENST00000357415;ENST00000380004;ENST00000310267;ENST00000504028;ENST00000502596	T;T;T;T	0.40225	1.06;1.04;1.08;1.24	5.18	3.92	0.45320	.	0.308493	0.34750	N	0.003718	T	0.16727	0.0402	N	0.08118	0	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.11916	-1.0568	10	0.10377	T	0.69	-5.201	3.7465	0.08549	0.0:0.1686:0.1977:0.6337	.	80;80;80	Q9H2U2-3;E2QRM6;Q9H2U2	.;.;IPYR2_HUMAN	V	80;80;95;80;1;75;1	ENSP00000343885:M80V;ENSP00000313061:M80V;ENSP00000349996:M95V;ENSP00000369340:M80V	ENSP00000311150:M1V	M	-	1	0	PPA2	106594233	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	1.038000	0.30254	1.954000	0.56735	0.455000	0.32223	ATG		0.303	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869		C	106374784	T	C	106374784	3	2	371	1	0	0	0	0	1	0	0	0	12287	1406	49	4	806	4	PPA2	4	106374784	Missense_Mutation	SNP	T	TCGA-31-1953-01A-01W-0699-08		106374784	84779492	11	20430											
ADCY2	108	broad.mit.edu	37	5	7414689	7414689	+	Missense_Mutation	SNP	G	G	T			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr5:7414689G>T	ENST00000338316.4	+	2	303	c.214G>T	c.(214-216)Gtt>Ttt	p.V72F		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	72					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V72F(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCTCAGGAAGTTGAAGACCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	5											210	203	205					5																	7414689		2203	4300	6503	7467689	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.214G>T	5.37:g.7414689G>T	ENSP00000342952:p.Val72Phe		7467689	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	5.255	0.232508	0.09969	.	.	ENSG00000078295	ENST00000338316	T	0.76839	-1.05	4.84	3.95	0.45737	.	0.423920	0.23894	N	0.043507	T	0.58921	0.2156	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51340	-0.8718	10	0.09338	T	0.73	.	8.7748	0.34756	0.1691:0.0:0.8309:0.0	.	72	Q08462	ADCY2_HUMAN	F	72	ENSP00000342952:V72F	ENSP00000342952:V72F	V	+	1	0	ADCY2	7467689	0.999000	0.42202	0.998000	0.56505	0.962000	0.63368	2.393000	0.44442	2.399000	0.81585	0.557000	0.71058	GTT		0.378	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7414689	G	T	7414689	3	4	371	1	0	0	0	0	1	0	0	0	294	1029	36	3	220	3	ADCY2	5	7414689	Missense_Mutation	SNP	G	TCGA-31-1953-01A-01W-0699-08		7414689	173500571	12	20431											
PCDHB16	57717	broad.mit.edu	37	5	140563996	140563996	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr5:140563996A>G	ENST00000361016.2	+	1	3017	c.1862A>G	c.(1861-1863)aAt>aGt	p.N621S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.N621S(1)		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)			TGGGCGCACAATGGCGAGGTG	0.692																																																1	Substitution - Missense(1)	ovary(1)	5											23	23	23					5																	140563996		1893	3868	5761	140544180	SO:0001583	missense	57717			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	ENST00000361016.2:c.1862A>G	5.37:g.140563996A>G	ENSP00000354293:p.Asn621Ser		140544180	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	a	15.27	2.784446	0.49997	.	.	ENSG00000196963	ENST00000361016	T	0.50277	0.75	4.22	1.82	0.25136	Cadherin (4);Cadherin-like (1);	0.210222	0.23758	N	0.044860	T	0.31199	0.0789	N	0.04959	-0.14	0.26812	N	0.968985	P	0.34826	0.471	P	0.46275	0.51	T	0.20107	-1.0285	10	0.56958	D	0.05	.	4.4302	0.11524	0.6525:0.1675:0.1799:0.0	.	621	Q9NRJ7	PCDBG_HUMAN	S	621	ENSP00000354293:N621S	ENSP00000354293:N621S	N	+	2	0	PCDHB16	140544180	0.000000	0.05858	0.987000	0.45799	0.989000	0.77384	-0.307000	0.08167	0.103000	0.17682	0.392000	0.25879	AAT		0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		G	140563996	A	G	140563996	3	3	371	1	0	0	0	0	1	0	0	0	11541	101	4	4	1864	4	PCDHB16	5	140563996	Missense_Mutation	SNP	A	TCGA-31-1953-01A-01W-0699-08	133149307	140563996	40351264	13	20432											
ZFP57	4340	broad.mit.edu	37	6	29641174	29641174	+	IGR	SNP	C	C	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr6:29641174C>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.K218N|ZFP57_ENST00000376883.1_Missense_Mutation_p.K218N|ZFP57_ENST00000488757.1_Missense_Mutation_p.K238N	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K218N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CACAGTAGGTCTTGTCACAGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	6											74	84	81					6																	29641174		1374	2605	3979	29749153	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641174C>G			29749153	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804713	0.70682	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.27890	1.64;1.64;1.64	4.55	3.67	0.42095	.	0.000000	0.48767	D	0.000162	T	0.47021	0.1423	M	0.84326	2.69	0.35002	D	0.75609	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52983	-0.8502	10	0.87932	D	0	-24.7	10.3488	0.43922	0.0:0.9002:0.0:0.0998	.	238;218	Q9NU63-3;Q9NU63-2	.;.	N	238;218;218	ENSP00000418259:K238N;ENSP00000366078:K218N;ENSP00000366080:K218N	ENSP00000366078:K218N	K	-	3	2	ZFP57	29749153	0.579000	0.26725	1.000000	0.80357	0.984000	0.73092	0.448000	0.21726	2.502000	0.84385	0.563000	0.77884	AAG		0.572	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		G	29641174	C	G	29641174	1	3	371	0	1	0	0	0	0	0	0	0	17651	912	32	3		3	ZFP57	6	29641174	IGR	SNP	C	TCGA-31-1953-01A-01W-0699-08		29641174	141473893	14	20433											
LPA	4018	broad.mit.edu	37	6	161015016	161015016	+	Silent	SNP	C	C	T			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr6:161015016C>T	ENST00000316300.5	-	22	3647	c.3603G>A	c.(3601-3603)caG>caA	p.Q1201Q	LPA_ENST00000447678.1_Silent_p.Q1201Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3709	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Q1201Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGTTGTCCTCTGATGCCAGT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	6											145	145	145					6																	161015016		2029	4221	6250	160935006	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3603G>A	6.37:g.161015016C>T			160935006	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.473	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	161015016	C	T	161015016	2	4	371	1	0	0	0	0	0	0	0	1	8903	912	32	2		2	LPA	6	161015016	Silent	SNP	C	TCGA-31-1953-01A-01W-0699-08	131373842	161015016	10100051	15	20434											
WIPI2	26100	broad.mit.edu	37	7	5257579	5257579	+	Silent	SNP	C	C	T			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr7:5257579C>T	ENST00000288828.4	+	7	835	c.603C>T	c.(601-603)caC>caT	p.H201H	WIPI2_ENST00000484262.1_Silent_p.H142H|WIPI2_ENST00000404704.3_Silent_p.H201H|WIPI2_ENST00000401525.3_Silent_p.H183H|WIPI2_ENST00000382384.2_Silent_p.H183H	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	201					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.H201H(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTCCGGCTCACGACAGTCCTT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	7											198	173	181					7																	5257579		2203	4300	6503	5224105	SO:0001819	synonymous_variant	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.603C>T	7.37:g.5257579C>T			5224105	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	ENST00000288828.4	37	CCDS5339.1																																																																																				0.582	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		T	5257579	C	T	5257579	2	4	371	1	0	0	0	0	0	0	0	1	17371	535	19	1		1	WIPI2	7	5257579	Silent	SNP	C	TCGA-31-1953-01A-01W-0699-08		5257579	153881084	16	20435											
ABCB8	11194	broad.mit.edu	37	7	150741261	150741261	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr7:150741261C>A	ENST00000297504.6	+	16	2086	c.2020C>A	c.(2020-2022)Cgt>Agt	p.R674S	ABCB8_ENST00000498578.1_Intron|ABCB8_ENST00000358849.4_Missense_Mutation_p.R657S|ABCB8_ENST00000542328.1_Missense_Mutation_p.R569S|ABCB8_ENST00000356058.4_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	674	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R657S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CAGCACTGTCCGTGGGGCCCA	0.647																																																1	Substitution - Missense(1)	ovary(1)	7											93	71	79					7																	150741261		2203	4300	6503	150372194	SO:0001583	missense	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.2020C>A	7.37:g.150741261C>A	ENSP00000297504:p.Arg674Ser		150372194	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		.	.	.	.	.	.	.	.	.	.	C	9.727	1.161133	0.21538	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328	T;T;T	0.77098	-1.07;-1.07;-1.07	4.74	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.195384	0.47852	D	0.000210	T	0.63248	0.2495	N	0.16307	0.4	0.45704	D	0.99861	B;P;P	0.39576	0.383;0.679;0.643	B;B;B	0.39971	0.315;0.272;0.315	T	0.66488	-0.5911	10	0.56958	D	0.05	4.3938	9.0558	0.36405	0.0:0.9015:0.0:0.0985	.	569;674;657	G3XAP3;Q9NUT2;Q9NUT2-2	.;ABCB8_HUMAN;.	S	657;640;674;569	ENSP00000351717:R657S;ENSP00000297504:R674S;ENSP00000438776:R569S	ENSP00000297504:R674S	R	+	1	0	ABCB8	150372194	0.066000	0.20996	0.043000	0.18650	0.003000	0.03518	1.779000	0.38624	2.618000	0.88619	0.655000	0.94253	CGT		0.647	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		A	150741261	C	A	150741261	3	1	371	1	0	0	0	0	1	0	0	0	47	652	23	3	2027	3	ABCB8	7	150741261	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08	145483682	150741261	8397402	17	20436											
MLL3	58508	broad.mit.edu	37	7	151879516	151879516	+	Missense_Mutation	SNP	A	A	C			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr7:151879516A>C	ENST00000262189.6	-	36	5647	c.5429T>G	c.(5428-5430)tTg>tGg	p.L1810W	KMT2C_ENST00000355193.2_Missense_Mutation_p.L1810W	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1810					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L1810W(1)									CTGAGGTGTCAAGGGACTCTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											231	225	227					7																	151879516		2203	4300	6503	151510449	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5429T>G	7.37:g.151879516A>C	ENSP00000262189:p.Leu1810Trp		151510449	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184492	0.38609	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84298	-1.83;-1.83	5.41	4.26	0.50523	.	0.000000	0.32120	N	0.006551	D	0.86062	0.5843	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.989	D	0.86445	0.1769	10	0.72032	D	0.01	.	11.1936	0.48700	0.9277:0.0:0.0723:0.0	.	1810;871	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	W	1810	ENSP00000262189:L1810W;ENSP00000347325:L1810W	ENSP00000262189:L1810W	L	-	2	0	MLL3	151510449	0.997000	0.39634	0.553000	0.28255	0.996000	0.88848	4.982000	0.63825	0.898000	0.36418	0.460000	0.39030	TTG		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151879516	A	C	151879516	3	2	371	1	0	0	0	0	1	0	0	0	9622	131	5	5	9402	5	MLL3	7	151879516	Missense_Mutation	SNP	A	TCGA-31-1953-01A-01W-0699-08	1138255	151879516	7259147	18	20437											
IL11RA	3590	broad.mit.edu	37	9	34657128	34657128	+	Missense_Mutation	SNP	G	G	A	rs371329032		TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr9:34657128G>A	ENST00000555003.1	+	5	1784	c.428G>A	c.(427-429)cGc>cAc	p.R143H	IL11RA_ENST00000318041.9_Missense_Mutation_p.R143H|IL11RA_ENST00000378817.4_Missense_Mutation_p.R143H|IL11RA_ENST00000602473.1_Missense_Mutation_p.R143H|IL11RA_ENST00000478802.2_Intron|IL11RA_ENST00000441545.2_Missense_Mutation_p.R143H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	143	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.R143H(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	TTACCCACCCGCTACCTCACC	0.572																																																1	Substitution - Missense(1)	ovary(1)	9						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	96	88	90		428,428,428	5.2	1	9		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL11RA	NM_001142784.1,NM_004512.3,NM_147162.1	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	143/423,143/423,143/391	34657128	1,13005	2203	4300	6503	34647128	SO:0001583	missense	3590			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.428G>A	9.37:g.34657128G>A	ENSP00000450565:p.Arg143His		34647128	Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031857	0.75504	0.0	1.16E-4	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000553620;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.072800	0.07077	N	0.836425	T	0.61677	0.2366	M	0.66939	2.045	0.44309	D	0.997183	D	0.89917	1.0	D	0.74023	0.982	T	0.46665	-0.9175	10	0.56958	D	0.05	-16.2626	14.2807	0.66211	0.0:0.0:1.0:0.0	.	143	Q14626	I11RA_HUMAN	H	143;143;66;143;143;143;143	ENSP00000450565:R143H;ENSP00000394391:R143H;ENSP00000452207:R66H;ENSP00000368094:R143H;ENSP00000326500:R143H;ENSP00000451447:R143H;ENSP00000450640:R143H	ENSP00000326500:R143H	R	+	2	0	IL11RA	34647128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.119000	0.41958	2.425000	0.82216	0.655000	0.94253	CGC		0.572	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		A	34657128	G	A	34657128	3	1	371	1	0	0	0	0	1	0	0	0	7623	1087	38	1	442	1	IL11RA	9	34657128	Missense_Mutation	SNP	G	TCGA-31-1953-01A-01W-0699-08		34657128	106556303	19	20438											
PNLIP	5406	broad.mit.edu	37	10	118315569	118315569	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr10:118315569G>C	ENST00000369221.2	+	9	897	c.869G>C	c.(868-870)aGc>aCc	p.S290T		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	290					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.S290T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TACACTGATAGCATCGTCAAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											208	183	192					10																	118315569		2203	4300	6503	118305559	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.869G>C	10.37:g.118315569G>C	ENSP00000358223:p.Ser290Thr		118305559	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128828	0.56721	.	.	ENSG00000175535	ENST00000369221	D	0.94138	-3.36	6.16	6.16	0.99307	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	M	0.87682	2.9	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97256	0.9901	10	0.87932	D	0	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	290	P16233	LIPP_HUMAN	T	290	ENSP00000358223:S290T	ENSP00000358223:S290T	S	+	2	0	PNLIP	118305559	1.000000	0.71417	0.975000	0.42487	0.114000	0.19823	4.819000	0.62664	2.937000	0.99478	0.650000	0.86243	AGC		0.423	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		C	118315569	G	C	118315569	3	2	371	1	0	0	0	0	1	0	0	0	12149	971	34	3	899	3	PNLIP	10	118315569	Missense_Mutation	SNP	G	TCGA-31-1953-01A-01W-0699-08		118315569	17219178	20	20439											
PPAPDC1A	196051	broad.mit.edu	37	10	122334730	122334730	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr10:122334730G>A	ENST00000398250.1	+	6	885	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R178Q|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R168Q|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R115Q|PPAPDC1A_ENST00000496437.1_3'UTR	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	178					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.R178Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		AAGAGCTGGCGGCTCTGTGCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	10											88	92	91					10																	122334730		2130	4239	6369	122324720	SO:0001583	missense	196051			AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"phosphatidic acid phosphatase type 2 domain containing 1"	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.533G>A	10.37:g.122334730G>A	ENSP00000381302:p.Arg178Gln		122324720	A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	36	5.815754	0.96982	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.5	5.5	0.81552	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.050592	0.85682	D	0.000000	D	0.89136	0.6629	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.99	P;D;P	0.83275	0.899;0.996;0.679	D	0.89868	0.4021	10	0.66056	D	0.02	-30.1343	19.3885	0.94566	0.0:0.0:1.0:0.0	.	178;115;178	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	Q	115;178;178;178;168	ENSP00000381302:R178Q;ENSP00000407979:R178Q;ENSP00000440493:R178Q;ENSP00000358069:R168Q	ENSP00000358069:R168Q	R	+	2	0	PPAPDC1A	122324720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.570000	0.86706	0.655000	0.94253	CGG		0.597	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		A	122334730	G	A	122334730	3	1	371	1	0	0	0	0	1	0	0	0	12293	1116	39	1	555	1	PPAPDC1A	10	122334730	Missense_Mutation	SNP	G	TCGA-31-1953-01A-01W-0699-08	4019161	122334730	13200017	21	20440											
CYP2E1	1571	broad.mit.edu	37	10	135342013	135342013	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr10:135342013C>G	ENST00000463117.2	+	4	478	c.206C>G	c.(205-207)aCg>aGg	p.T69R	CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.T69R|AL161645.2_ENST00000599428.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	69					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.T69R(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCGGTGTTCACGCTGTACGTG	0.672									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							1	Substitution - Missense(1)	ovary(1)	10											62	52	55					10																	135342013		2203	4300	6503	135192003	SO:0001583	missense	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.206C>G	10.37:g.135342013C>G	ENSP00000440689:p.Thr69Arg		135192003	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264590	0.80358	.	.	ENSG00000130649	ENST00000463117;ENST00000541261;ENST00000252945	T;T;T	0.67698	-0.28;-0.28;-0.28	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	L	0.60012	1.86	0.33962	D	0.645786	D	0.76494	0.999	D	0.68039	0.955	D	0.84301	0.0505	10	0.87932	D	0	.	16.1193	0.81336	0.0:1.0:0.0:0.0	.	69	P05181	CP2E1_HUMAN	R	69	ENSP00000440689:T69R;ENSP00000437799:T69R;ENSP00000252945:T69R	ENSP00000252945:T69R	T	+	2	0	CYP2E1	135192003	0.933000	0.31639	0.958000	0.39756	0.985000	0.73830	1.958000	0.40402	2.751000	0.94390	0.555000	0.69702	ACG		0.672	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		G	135342013	C	G	135342013	3	3	371	1	0	0	0	0	1	0	0	0	4170	536	19	3	212	3	CYP2E1	10	135342013	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08	13007283	135342013	192734	22	20441											
NUP160	23279	broad.mit.edu	37	11	47814385	47814385	+	Missense_Mutation	SNP	T	T	C			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr11:47814385T>C	ENST00000378460.2	-	28	3449	c.3403A>G	c.(3403-3405)Att>Gtt	p.I1135V	NUP160_ENST00000528071.1_Missense_Mutation_p.I1021V|NUP160_ENST00000530326.1_Missense_Mutation_p.I1021V	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1135					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.I1135V(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCTGGACGAATAAGTCGTAAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											167	157	160					11																	47814385		2201	4298	6499	47770961	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3403A>G	11.37:g.47814385T>C	ENSP00000367721:p.Ile1135Val		47770961	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.245618	0.22796	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.21191	2.57;2.02;2.13	5.44	5.44	0.79542	.	0.121715	0.53938	D	0.000041	T	0.06188	0.0160	N	0.00707	-1.245	0.80722	D	1	B	0.18310	0.027	B	0.15052	0.012	T	0.28902	-1.0029	10	0.02654	T	1	.	15.1779	0.72931	0.0:0.0:0.0:1.0	.	1135	Q12769	NU160_HUMAN	V	1135;1021;1021	ENSP00000367721:I1135V;ENSP00000433590:I1021V;ENSP00000432367:I1021V	ENSP00000367721:I1135V	I	-	1	0	NUP160	47770961	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.906000	0.69900	2.068000	0.61886	0.528000	0.53228	ATT		0.458	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		C	47814385	T	C	47814385	3	2	371	1	0	0	0	0	1	0	0	0	10757	1406	49	4	943	4	NUP160	11	47814385	Missense_Mutation	SNP	T	TCGA-31-1953-01A-01W-0699-08		47814385	87192131	23	20442											
OR4C13	283092	broad.mit.edu	37	11	49974083	49974083	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr11:49974083A>G	ENST00000555099.1	+	1	141	c.109A>G	c.(109-111)Atg>Gtg	p.M37V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M37V(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CATCAACGCCATGATAGGAAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											221	202	208					11																	49974083		2201	4296	6497	49930659	SO:0001583	missense	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.109A>G	11.37:g.49974083A>G	ENSP00000452277:p.Met37Val		49930659	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.640877	0.00007	.	.	ENSG00000258817	ENST00000555099	T	0.00416	7.51	2.95	-3.82	0.04281	.	1.169940	0.06582	N	0.750450	T	0.00073	0.0002	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29610	-1.0006	9	.	.	.	.	1.2023	0.01887	0.3397:0.2539:0.2777:0.1287	.	37	Q8NGP0	OR4CD_HUMAN	V	37	ENSP00000452277:M37V	.	M	+	1	0	OR4C13	49930659	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-7.570000	0.00034	-1.678000	0.01454	-2.594000	0.00164	ATG		0.413	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		G	49974083	A	G	49974083	3	3	371	1	0	0	0	0	1	0	0	0	11047	217	8	4	111	4	OR4C13	11	49974083	Missense_Mutation	SNP	A	TCGA-31-1953-01A-01W-0699-08	2159698	49974083	85032433	24	20443											
GIF	2694	broad.mit.edu	37	11	59612902	59612902	+	Silent	SNP	G	G	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr11:59612902G>A	ENST00000257248.2	-	1	72	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	9					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.L9L(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	AGAAGGCTCAGGAGGTAGAGG	0.498																																					NSCLC(53;1139 1245 16872 38474 42853)											1	Substitution - coding silent(1)	ovary(1)	11											172	168	170					11																	59612902		2201	4295	6496	59369478	SO:0001819	synonymous_variant	2694			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.25C>T	11.37:g.59612902G>A			59369478	B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	CCDS7977.1																																																																																				0.498	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		A	59612902	G	A	59612902	2	1	371	1	0	0	0	0	0	0	0	1	6376	991	35	2		2	GIF	11	59612902	Silent	SNP	G	TCGA-31-1953-01A-01W-0699-08	9638819	59612902	75393614	25	20444											
E2F7	144455	broad.mit.edu	37	12	77423663	77423663	+	Missense_Mutation	SNP	T	T	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr12:77423663T>A	ENST00000322886.7	-	10	2067	c.1832A>T	c.(1831-1833)aAa>aTa	p.K611I	E2F7_ENST00000416496.2_Missense_Mutation_p.K611I	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	611					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K611I(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						ACTTTGCCTTTTAGTGGCTGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	12											101	92	95					12																	77423663		2203	4300	6503	75947794	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1832A>T	12.37:g.77423663T>A	ENSP00000323246:p.Lys611Ile		75947794	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241633	0.58995	.	.	ENSG00000165891	ENST00000322886;ENST00000339887;ENST00000416496;ENST00000550669	T;T;T	0.54279	0.58;0.58;0.58	5.69	5.69	0.88448	.	0.105450	0.64402	D	0.000005	T	0.70185	0.3195	M	0.68952	2.095	0.44042	D	0.99677	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.73272	-0.4035	10	0.72032	D	0.01	-25.4272	13.6802	0.62479	0.0:0.0:0.0:1.0	.	611;611	Q96AV8-2;Q96AV8	.;E2F7_HUMAN	I	611;98;611;611	ENSP00000323246:K611I;ENSP00000393639:K611I;ENSP00000448245:K611I	ENSP00000323246:K611I	K	-	2	0	E2F7	75947794	1.000000	0.71417	0.959000	0.39883	0.017000	0.09413	5.169000	0.64984	2.162000	0.67917	0.533000	0.62120	AAA		0.557	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		A	77423663	T	A	77423663	3	1	371	1	0	0	0	0	1	0	0	0	4872	1841	64	5	919	5	E2F7	12	77423663	Missense_Mutation	SNP	T	TCGA-31-1953-01A-01W-0699-08		77423663	56428232	26	20445											
MYL2	4633	broad.mit.edu	37	12	111353546	111353546	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr12:111353546C>A	ENST00000228841.8	-	3	189	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	MYL2_ENST00000548438.1_Intron	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)	p.D48Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCTCTCAGATCGTTCTTGTCA	0.527																																					GBM(14;268 426 18829 21617 25540)											1	Substitution - Missense(1)	ovary(1)	12											259	221	233					12																	111353546		2203	4300	6503	109837929	SO:0001583	missense	4633				CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"Myosins / Light chain", "EF-hand domain containing"	7583	protein-coding gene	gene with protein product	"cardiac ventricular myosin light chain 2"	160781	"myosin, light polypeptide 2, regulatory, cardiac, slow"			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.142G>T	12.37:g.111353546C>A	ENSP00000228841:p.Asp48Tyr		109837929	Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506538	0.85282	.	.	ENSG00000111245	ENST00000228841;ENST00000550439	T	0.65732	-0.17	5.06	5.06	0.68205	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86322	0.5905	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91190	0.4983	10	0.87932	D	0	.	17.2054	0.86916	0.0:1.0:0.0:0.0	.	48	P10916	MLRV_HUMAN	Y	48;29	ENSP00000228841:D48Y	ENSP00000228841:D48Y	D	-	1	0	MYL2	109837929	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	7.232000	0.78116	2.357000	0.79964	0.561000	0.74099	GAT		0.527	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		A	111353546	C	A	111353546	3	1	371	1	0	0	0	0	1	0	0	0	10047	884	31	3	378	3	MYL2	12	111353546	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08	33929883	111353546	22498349	27	20446											
DGKH	160851	broad.mit.edu	37	13	42783575	42783575	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr13:42783575A>G	ENST00000337343.4	+	23	2845	c.2824A>G	c.(2824-2826)Aga>Gga	p.R942G	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.R806G|DGKH_ENST00000540693.1_Missense_Mutation_p.R942G|DGKH_ENST00000538674.1_Missense_Mutation_p.R697G|DGKH_ENST00000261491.5_Missense_Mutation_p.R942G|DGKH_ENST00000379274.2_Missense_Mutation_p.R806G	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	942					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R942G(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCACAAAAACAGAGCACAAAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	13											88	80	83					13																	42783575		2203	4300	6503	41681575	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2824A>G	13.37:g.42783575A>G	ENSP00000337572:p.Arg942Gly		41681575	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686301	0.68157	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.68	1.73	0.24493	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.996	D;D;D;D	0.91635	0.972;0.999;0.995;0.957	T	0.63910	-0.6530	10	0.66056	D	0.02	.	8.6329	0.33930	0.4777:0.4024:0.0:0.1199	.	697;806;942;942	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	G	942;942;942;806;806;697	ENSP00000440823:R942G;ENSP00000337572:R942G;ENSP00000261491:R942G;ENSP00000368576:R806G;ENSP00000445114:R806G;ENSP00000441308:R697G	ENSP00000261491:R942G	R	+	1	2	DGKH	41681575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.851000	0.39338	0.519000	0.28406	0.482000	0.46254	AGA		0.363	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		G	42783575	A	G	42783575	3	3	371	1	0	0	0	0	1	0	0	0	4470	180	7	4	2914	4	DGKH	13	42783575	Missense_Mutation	SNP	A	TCGA-31-1953-01A-01W-0699-08		42783575	72386303	28	20447											
ADAMTSL3	57188	broad.mit.edu	37	15	84694187	84694187	+	Splice_Site	SNP	G	G	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr15:84694187G>A	ENST00000286744.5	+	27	4879	c.4655G>A	c.(4654-4656)cGg>cAg	p.R1552Q	ADAMTSL3_ENST00000567476.1_Splice_Site_p.R1552Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1552						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1552Q(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAGGGAACCGGGTAAAGCTA	0.483																																																1	Substitution - Missense(1)	ovary(1)	15											64	63	64					15																	84694187		2203	4299	6502	82485191	SO:0001630	splice_region_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4656+1G>A	15.37:g.84694187G>A			82485191	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	A	2.337	-0.352015	0.05173	.	.	ENSG00000156218	ENST00000286744	T	0.62639	0.01	5.0	5.0	0.66597	.	0.922843	0.08979	N	0.866129	T	0.25531	0.0621	N	0.00554	-1.385	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26189	-1.0110	10	0.02654	T	1	.	7.526	0.27656	0.9045:0.0:0.0955:0.0	.	1552;1552	P82987-2;P82987	.;ATL3_HUMAN	Q	1552	ENSP00000286744:R1552Q	ENSP00000286744:R1552Q	R	+	2	0	ADAMTSL3	82485191	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	2.356000	0.44116	0.924000	0.37069	-0.254000	0.11334	CGG		0.483	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	Missense_Mutation	A	84694187	G	A	84694187	5	1	371	1	0	0	0	0	0	0	1	0	276	1130	39	1	4757	1	ADAMTSL3	15	84694187	Splice_Site	SNP	G	TCGA-31-1953-01A-01W-0699-08		84694187	17837205	29	20448											
TP53	7157	broad.mit.edu	37	17	7579362	7579396	+	Frame_Shift_Del	DEL	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	-	rs587781504|rs587782461|rs368771578|rs587782447|rs587783063		TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	-	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr17:7579362_7579396delAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	ENST00000269305.4	-	4	480_514	c.291_325delCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTT	c.(289-327)gtcccttcccagaaaacctaccagggcagctacggtttcfs	p.PSQKTYQGSYGF98fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.PSQKTYQGSYGF98fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.PSQKTYQGSYGF98fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PSQKTYQGSYGF98fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PSQKTYQGSYGF98fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PSQKTYQGSYGF98fs	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	98	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y107D(13)|p.Q100*(12)|p.Q104*(12)|p.Y107*(10)|p.Y103*(10)|p.0?(8)|p.T102I(7)|p.G105C(5)|p.K101*(4)|p.P98S(4)|p.G105D(4)|p.S99fs*48(3)|p.Y107Y(3)|p.V97V(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G105fs*18(3)|p.K101R(3)|p.P98L(3)|p.S106R(3)|p.S99fs*23(3)|p.Y103fs*19(3)|p.T102fs*21(3)|p.K101_Y103>N(3)|p.G105R(2)|p.G108_F109delGF(2)|p.G108del(2)|p.S99F(2)|p.F109_R110delFR(2)|p.Q104fs*19(1)|p.Y107fs*38(1)|p.P98fs*26(1)|p.Y107Q(1)|p.?fs(1)|p.G108S(1)|p.G105S(1)|p.W91fs*13(1)|p.Y107C(1)|p.G108D(1)|p.G108G(1)|p.V73fs*9(1)|p.S106fs*17(1)|p.G105V(1)|p.S99P(1)|p.Y107fs*44(1)|p.Y103_Q104>**(1)|p.S33fs*23(1)|p.G105G(1)|p.S106_Y107delSY(1)|p.G108fs*41(1)|p.?_?ins?(1)|p.K101N(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.G108fs*15(1)|p.Y103Y(1)|p.F109V(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)|p.G105_T125del21(1)|p.K101fs*48(1)|p.Q104H(1)|p.Q104L(1)|p.S99fs*24(1)|p.G105A(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)	CCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATG	0.63		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"	177	Substitution - Missense(58)|Substitution - Nonsense(48)|Deletion - Frameshift(32)|Substitution - coding silent(9)|Deletion - In frame(8)|Whole gene deletion(8)|Insertion - Frameshift(7)|Complex - deletion inframe(5)|Insertion - In frame(1)|Complex - compound substitution(1)	lung(24)|haematopoietic_and_lymphoid_tissue(23)|breast(21)|skin(14)|large_intestine(13)|urinary_tract(13)|ovary(12)|upper_aerodigestive_tract(10)|adrenal_gland(8)|central_nervous_system(8)|prostate(6)|oesophagus(4)|pancreas(4)|bone(4)|stomach(3)|kidney(3)|biliary_tract(3)|liver(2)|cervix(1)|eye(1)	17	GRCh37	CM013441|CM043949|CM073388	TP53	M																																				7520121	SO:0001589	frameshift_variant	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.291_325delCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTT	17.37:g.7579362_7579396delAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	ENSP00000269305:p.Pro98fs		7520087	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.63	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579396	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	-	7579362	7	5	371	1	0	1	0	1	0	0	0	0	16381	14	1	0	977	0	TP53	17	7579362	Frame_Shift_Del	DEL	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	TCGA-31-1953-01A-01W-0699-08		7579362	73615848	30	20449											
CDK12	51755	broad.mit.edu	37	17	37649051	37649051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr17:37649051G>A	ENST00000447079.4	+	4	2189	c.2156G>A	c.(2155-2157)tGg>tAg	p.W719*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.W719*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	719					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.W719*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAAAGCGACTGGGGGAAACGC	0.388			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Nonsense(1)	ovary(1)	17											75	77	76					17																	37649051		2203	4300	6503	34902577	SO:0001587	stop_gained	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2156G>A	17.37:g.37649051G>A	ENSP00000398880:p.Trp719*		34902577	A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	38	7.269320	0.98175	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.89	5.89	0.94794	.	0.000000	0.44688	D	0.000422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7818	20.2576	0.98430	0.0:0.0:1.0:0.0	.	.	.	.	X	719	.	ENSP00000407720:W719X	W	+	2	0	CDK12	34902577	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.827000	0.99397	2.783000	0.95769	0.655000	0.94253	TGG		0.388	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		A	37649051	G	A	37649051	4	1	371	1	0	0	0	0	0	1	0	0	3128	1357	47	2	2170	2	CDK12	17	37649051	Nonsense_Mutation	SNP	G	TCGA-31-1953-01A-01W-0699-08	30069689	37649051	43546159	31	20450											
RAD23A	5886	broad.mit.edu	37	19	13063845	13063845	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr19:13063845G>C	ENST00000586534.1	+	9	1135	c.1074G>C	c.(1072-1074)caG>caC	p.Q358H	RAD23A_ENST00000541222.1_Missense_Mutation_p.Q193H|RAD23A_ENST00000592268.1_Missense_Mutation_p.Q303H|RAD23A_ENST00000316856.3_Missense_Mutation_p.Q357H			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	358	HIV-1 vpr binding.|UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)	p.Q358H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TCCTGAGTCAGAACTTTGATG	0.468								Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	19											77	74	75					19																	13063845		2203	4300	6503	12924845	SO:0001583	missense	5886				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.1074G>C	19.37:g.13063845G>C	ENSP00000467024:p.Gln358His		12924845	K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520764	0.27211	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T	0.52295	0.67	4.88	4.88	0.63580	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.000000	0.64402	D	0.000003	T	0.64735	0.2625	M	0.78637	2.42	0.58432	D	0.999995	D;B;D	0.71674	0.984;0.042;0.998	D;B;D	0.87578	0.994;0.059;0.998	T	0.62487	-0.6844	10	0.21014	T	0.42	-28.3364	10.5329	0.44988	0.0908:0.0:0.9092:0.0	.	357;374;358	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	H	358;193	ENSP00000438741:Q193H	ENSP00000321365:Q358H	Q	+	3	2	RAD23A	12924845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.033000	0.70925	2.281000	0.76405	0.555000	0.69702	CAG		0.468	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		C	13063845	G	C	13063845	3	2	371	1	0	0	0	0	1	0	0	0	12985	933	33	3	1108	3	RAD23A	19	13063845	Missense_Mutation	SNP	G	TCGA-31-1953-01A-01W-0699-08		13063845	46065138	32	20451											
ZNF583	147949	broad.mit.edu	37	19	56934806	56934806	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr19:56934806G>A	ENST00000333201.9	+	5	989	c.779G>A	c.(778-780)aGa>aAa	p.R260K	ZNF583_ENST00000291598.7_Missense_Mutation_p.R260K|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R260K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAACATAAGAGAATACATACT	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											52	53	53					19																	56934806		2203	4298	6501	61626618	SO:0001583	missense	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.779G>A	19.37:g.56934806G>A	ENSP00000388502:p.Arg260Lys		61626618	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956845	0.73902	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.02197	4.4;4.4	4.43	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000308	T	0.06554	0.0168	L	0.28458	0.855	0.39708	D	0.971281	D	0.65815	0.995	D	0.70227	0.968	T	0.55780	-0.8087	9	.	.	.	.	16.3372	0.83068	0.0:0.0:1.0:0.0	.	260	Q96ND8	ZN583_HUMAN	K	260	ENSP00000291598:R260K;ENSP00000388502:R260K	.	R	+	2	0	ZNF583	61626618	0.000000	0.05858	0.047000	0.18901	0.936000	0.57629	0.246000	0.18160	2.473000	0.83533	0.462000	0.41574	AGA		0.438	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		A	56934806	G	A	56934806	3	1	371	1	0	0	0	0	1	0	0	0	18015	942	33	2	793	2	ZNF583	19	56934806	Missense_Mutation	SNP	G	TCGA-31-1953-01A-01W-0699-08	43870961	56934806	2194177	33	20452											
TRIB3	57761	broad.mit.edu	37	20	371976	371976	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr20:371976C>G	ENST00000217233.3	+	3	890	c.337C>G	c.(337-339)Cgg>Ggg	p.R113G	TRIB3_ENST00000422053.2_Missense_Mutation_p.R140G	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	113	Interaction with DDIT3/CHOP.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)	p.R113G(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GCCCTATGCGCGGCTGCCCCC	0.657																																					Melanoma(101;421 2374 19538)											1	Substitution - Missense(1)	ovary(1)	20											46	50	49					20																	371976		2202	4299	6501	319976	SO:0001583	missense	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.337C>G	20.37:g.371976C>G	ENSP00000217233:p.Arg113Gly		319976	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219128	0.22373	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.66815	-0.23;-0.23;-0.23	5.1	-2.19	0.07015	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.829710	0.10065	N	0.720466	T	0.75376	0.3841	M	0.86097	2.795	0.09310	N	1	P;P	0.48503	0.911;0.911	P;P	0.53809	0.735;0.67	T	0.67749	-0.5590	10	0.52906	T	0.07	-6.3673	9.206	0.37289	0.6086:0.3188:0.0:0.0725	.	140;113	B4DMM9;Q96RU7	.;TRIB3_HUMAN	G	113;113;140	ENSP00000217233:R113G;ENSP00000391873:R113G;ENSP00000415416:R140G	ENSP00000217233:R113G	R	+	1	2	TRIB3	319976	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.367000	0.20382	-0.547000	0.06207	0.561000	0.74099	CGG		0.657	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		G	371976	C	G	371976	3	3	371	1	0	0	0	0	1	0	0	0	16484	759	27	3	343	3	TRIB3	20	371976	Missense_Mutation	SNP	C	TCGA-31-1953-01A-01W-0699-08		371976	62653544	34	20453											
CRLS1	54675	broad.mit.edu	37	20	6012658	6012658	+	Splice_Site	SNP	C	C	G			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chr20:6012658C>G	ENST00000378863.4	+	5	818	c.661C>G	c.(661-663)Cga>Gga	p.R221G	CRLS1_ENST00000452938.1_Splice_Site_p.A192G|CRLS1_ENST00000378868.4_Splice_Site_p.R122G|CRLS1_ENST00000464921.1_3'UTR	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	221					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.R221G(1)		lung(3)|ovary(1)	4						CCTCTGCCAGCGAACACTTGC	0.303																																																1	Substitution - Missense(1)	ovary(1)	20											107	104	105					20																	6012658		2203	4300	6503	5960658	SO:0001630	splice_region_variant	54675			AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"GCD10 homolog (S. cerevisiae)"	608188	"chromosome 20 open reading frame 155"	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.661-1C>G	20.37:g.6012658C>G			5960658	D3DW09|E9PAT4|Q27RP0|Q69YQ5	Missense_Mutation	SNP	ENST00000378863.4	37	CCDS13096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.92|16.92	3.254292|3.254292	0.59212|0.59212	.|.	.|.	ENSG00000088766|ENSG00000088766	ENST00000452938|ENST00000378863;ENST00000378868	T|.	0.46063|.	0.88|.	5.73|5.73	0.19|0.19	0.15125|0.15125	.|.	.|0.125329	.|0.52532	.|D	.|0.000062	T|T	0.66886|0.66886	0.2835|0.2835	M|M	0.75615|0.75615	2.305|2.305	0.45250|0.45250	D|D	0.998257|0.998257	.|P;D	.|0.57257	.|0.873;0.979	.|P;P	.|0.59487	.|0.529;0.858	T|T	0.64334|0.64334	-0.6432|-0.6432	6|8	.|.	.|.	.|.	-31.2437|-31.2437	9.5881|9.5881	0.39528|0.39528	0.6338:0.2955:0.0:0.0706|0.6338:0.2955:0.0:0.0706	.|.	.|122;221	.|Q9UJA2-2;Q9UJA2	.|.;CRLS1_HUMAN	G|G	192|221;122	ENSP00000416770:A192G|.	.|.	A|R	+|+	2|1	0|2	CRLS1|CRLS1	5960658|5960658	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.973000|0.973000	0.67179|0.67179	0.826000|0.826000	0.27407|0.27407	-0.168000|-0.168000	0.10853|0.10853	-0.182000|-0.182000	0.12963|0.12963	GCG|CGA		0.303	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077902.2	NM_019095	Missense_Mutation	G	6012658	C	G	6012658	5	3	371	1	0	0	0	0	0	0	1	0	3889	782	27	3	692	3	CRLS1	20	6012658	Splice_Site	SNP	C	TCGA-31-1953-01A-01W-0699-08	5640682	6012658	57012862	35	20454											
VGLL1	51442	broad.mit.edu	37	X	135631122	135631122	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chrX:135631122G>A	ENST00000370634.3	+	3	759	c.589G>A	c.(589-591)Gga>Aga	p.G197R	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G197R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CCAGATAGCTGGAAGCACAGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	X											62	63	63					X																	135631122		2203	4300	6503	135458788	SO:0001583	missense	51442			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"vestigial like 1 (Drosophila)"			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.589G>A	X.37:g.135631122G>A	ENSP00000359668:p.Gly197Arg		135458788	Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	G	6.146	0.395102	0.11638	.	.	ENSG00000102243	ENST00000370634	T	0.54479	0.57	5.61	3.81	0.43845	.	0.428673	0.24400	N	0.038858	T	0.45155	0.1328	N	0.20986	0.625	0.28259	N	0.924915	D	0.56035	0.974	P	0.52481	0.7	T	0.35051	-0.9804	10	0.49607	T	0.09	-3.2157	6.3174	0.21199	0.0959:0.0:0.7226:0.1815	.	197	Q99990	VGLL1_HUMAN	R	197	ENSP00000359668:G197R	ENSP00000359668:G197R	G	+	1	0	VGLL1	135458788	0.867000	0.29959	0.527000	0.27925	0.089000	0.18198	2.322000	0.43814	0.514000	0.28300	0.600000	0.82982	GGA		0.557	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		A	135631122	G	A	135631122	3	1	371	1	0	0	0	0	1	0	0	0	17158	1349	47	2	595	2	VGLL1	23	135631122	Missense_Mutation	SNP	G	TCGA-31-1953-01A-01W-0699-08		135631122	19639438	36	20455											
MTMR1	8776	broad.mit.edu	37	X	149905819	149905819	+	Missense_Mutation	SNP	T	T	A			TCGA-31-1953-01A-01W-0699-08	TCGA-31-1953-10A-01W-0699-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a8a53d5f-6fdd-41fa-9b3b-baf270a2b997	712bf481-0073-4fdd-a1a5-323ea080bfdd	g.chrX:149905819T>A	ENST00000370390.3	+	11	1505	c.1348T>A	c.(1348-1350)Tct>Act	p.S450T	MTMR1_ENST00000538506.1_Missense_Mutation_p.S275T|MTMR1_ENST00000445323.2_Missense_Mutation_p.S458T|MTMR1_ENST00000544228.1_Missense_Mutation_p.S450T|MTMR1_ENST00000451863.2_Missense_Mutation_p.S450T|MTMR1_ENST00000541925.1_Missense_Mutation_p.S356T	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	450	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.S450T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTCACATCTCTGGCTAT	0.463																																																1	Substitution - Missense(1)	ovary(1)	X											161	137	145					X																	149905819		2203	4300	6503	149656477	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1348T>A	X.37:g.149905819T>A	ENSP00000359417:p.Ser450Thr		149656477	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235399	0.39498	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	4.88	-0.915	0.10494	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.277370	0.41605	D	0.000845	D	0.95421	0.8513	M	0.92880	3.355	0.20926	N	0.999826	B;P	0.44659	0.212;0.84	B;B	0.38616	0.277;0.252	D	0.90387	0.4392	10	0.66056	D	0.02	.	15.4304	0.75092	0.0:0.0:0.6168:0.3832	.	450;458	Q13613;F8WA39	MTMR1_HUMAN;.	T	356;450;458;450;450;275	ENSP00000441879:S356T;ENSP00000359417:S450T;ENSP00000414178:S458T;ENSP00000440534:S450T;ENSP00000387446:S450T;ENSP00000443444:S275T	ENSP00000359417:S450T	S	+	1	0	MTMR1	149656477	0.997000	0.39634	0.030000	0.17652	0.986000	0.74619	2.816000	0.48026	-0.576000	0.05974	0.441000	0.28932	TCT		0.463	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		A	149905819	T	A	149905819	3	1	371	1	0	0	0	0	1	0	0	0	9938	1435	50	5	1390	5	MTMR1	23	149905819	Missense_Mutation	SNP	T	TCGA-31-1953-01A-01W-0699-08	14274697	149905819	5364741	37	20456											
CTBS	1486	broad.mit.edu	37	1	85036344	85036344	+	Silent	SNP	T	T	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr1:85036344T>C	ENST00000370630.5	-	2	285	c.237A>G	c.(235-237)acA>acG	p.T79T	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	79					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.T79T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTGCCACAGTTGTAATCTGTG	0.373																																																1	Substitution - coding silent(1)	ovary(1)	1											113	111	112					1																	85036344		2203	4300	6503	84808932	SO:0001819	synonymous_variant	1486			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.237A>G	1.37:g.85036344T>C			84808932	Q5VX50	Silent	SNP	ENST00000370630.5	37	CCDS698.1																																																																																				0.373	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		C	85036344	T	C	85036344	2	2	372	1	0	0	0	0	0	0	0	1	3999	1799	63	4		4	CTBS	1	85036344	Silent	SNP	T	TCGA-31-1959-01A-01W-0699-08		85036344	164214277	1	20457											
MAP4K3	8491	broad.mit.edu	37	2	39664035	39664035	+	Missense_Mutation	SNP	T	T	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr2:39664035T>C	ENST00000263881.3	-	1	418	c.94A>G	c.(94-96)Aag>Gag	p.K32E	AC007246.3_ENST00000443038.1_RNA|MAP4K3_ENST00000341681.5_Missense_Mutation_p.K32E|AC007246.3_ENST00000449569.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000445520.1_RNA|MAP4K3_ENST00000484274.1_Missense_Mutation_p.K32E	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	32	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.K32E(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GCCTTTACCTTGTAGACGTCG	0.701																																																1	Substitution - Missense(1)	ovary(1)	2											12	14	13					2																	39664035		2179	4277	6456	39517539	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.94A>G	2.37:g.39664035T>C	ENSP00000263881:p.Lys32Glu		39517539	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	32	5.134056	0.94517	.	.	ENSG00000011566	ENST00000263881;ENST00000341681	T;T	0.27557	1.66;1.66	3.78	2.53	0.30540	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	0.40297	0.1111	L	0.47078	1.49	0.80722	D	1	P;D	0.69078	0.937;0.997	P;D	0.65323	0.516;0.934	T	0.12993	-1.0526	9	.	.	.	.	8.4879	0.33082	0.0:0.0:0.1947:0.8053	.	32;32	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	E	32	ENSP00000263881:K32E;ENSP00000345434:K32E	.	K	-	1	0	MAP4K3	39517539	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.150000	0.64869	1.580000	0.49851	0.379000	0.24179	AAG		0.701	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		C	39664035	T	C	39664035	3	2	372	1	0	0	0	0	1	0	0	0	9261	1821	63	4	2726	4	MAP4K3	2	39664035	Missense_Mutation	SNP	T	TCGA-31-1959-01A-01W-0699-08		39664035	203535338	2	20458											
TTL	150465	broad.mit.edu	37	2	113251755	113251755	+	Missense_Mutation	SNP	G	G	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr2:113251755G>T	ENST00000233336.6	+	3	463	c.272G>T	c.(271-273)tGc>tTc	p.C91F		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	91	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)	p.C91F(1)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCTGAGTCCTGCACATGGTTC	0.478			T	ETV6	ALL																																		Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	1	Substitution - Missense(1)	ovary(1)	2											81	68	72					2																	113251755		2203	4300	6503	112968226	SO:0001583	missense	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.272G>T	2.37:g.113251755G>T	ENSP00000233336:p.Cys91Phe		112968226	Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702250	0.48307	.	.	ENSG00000114999	ENST00000233336	T	0.05199	3.48	5.67	4.79	0.61399	.	0.090690	0.85682	D	0.000000	T	0.04048	0.0113	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45789	-0.9237	10	0.42905	T	0.14	.	13.7627	0.62977	0.0755:0.0:0.9245:0.0	.	91	Q8NG68	TTL_HUMAN	F	91	ENSP00000233336:C91F	ENSP00000233336:C91F	C	+	2	0	TTL	112968226	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.077000	0.64419	1.527000	0.49086	0.561000	0.74099	TGC		0.478	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		T	113251755	G	T	113251755	3	4	372	1	0	0	0	0	1	0	0	0	16721	1319	46	3	282	3	TTL	2	113251755	Missense_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08	73587720	113251755	129947618	3	20459											
SCN3A	6328	broad.mit.edu	37	2	166003344	166003344	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr2:166003344A>G	ENST00000360093.3	-	12	2067	c.1576T>C	c.(1576-1578)Tcc>Ccc	p.S526P	RN7SL455P_ENST00000580629.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.S526P|SCN3A_ENST00000283254.7_Missense_Mutation_p.S526P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	526					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S526P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAGATTCGGATTTGGGAAAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	2											224	222	223					2																	166003344		2203	4300	6503	165711590	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1576T>C	2.37:g.166003344A>G	ENSP00000353206:p.Ser526Pro		165711590	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	A	15.49	2.848997	0.51164	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	5.67	4.52	0.55395	Domain of unknown function DUF3451 (1);	0.191789	0.37761	N	0.001958	D	0.96451	0.8842	M	0.91406	3.205	0.80722	D	1	D;D;B;B;D	0.89917	1.0;0.993;0.004;0.004;1.0	D;D;B;B;D	0.81914	0.995;0.985;0.006;0.006;0.994	D	0.96535	0.9396	10	0.87932	D	0	.	11.8309	0.52295	0.9315:0.0:0.0685:0.0	.	526;526;526;526;526	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	P	526	ENSP00000353206:S526P;ENSP00000283254:S526P;ENSP00000386726:S526P;ENSP00000403348:S526P	ENSP00000283254:S526P	S	-	1	0	SCN3A	165711590	1.000000	0.71417	0.982000	0.44146	0.134000	0.20937	8.910000	0.92685	1.087000	0.41251	-0.256000	0.11100	TCC		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		G	166003344	A	G	166003344	3	3	372	1	0	0	0	0	1	0	0	0	13921	333	12	4	4494	4	SCN3A	2	166003344	Missense_Mutation	SNP	A	TCGA-31-1959-01A-01W-0699-08	52751589	166003344	77196029	4	20460											
C2orf66	401027	broad.mit.edu	37	2	197672278	197672278	+	Silent	SNP	G	G	A			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr2:197672278G>A	ENST00000342506.2	-	2	1131	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	81						extracellular region (GO:0005576)		p.F81F(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						CATTCGTGGGGAAAGGATTTG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	2											135	142	140					2																	197672278		2203	4300	6503	197380523	SO:0001819	synonymous_variant	401027				CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.243C>T	2.37:g.197672278G>A			197380523	B2RNW3	Silent	SNP	ENST00000342506.2	37	CCDS2317.1																																																																																				0.398	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	NM_213608		A	197672278	G	A	197672278	2	1	372	1	0	0	0	0	0	0	0	1	2185	1165	41	2		2	C2orf66	2	197672278	Silent	SNP	G	TCGA-31-1959-01A-01W-0699-08	31668934	197672278	45527095	5	20461											
SNED1	25992	broad.mit.edu	37	2	242021731	242021731	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr2:242021731C>T	ENST00000310397.8	+	29	4073	c.4073C>T	c.(4072-4074)tCc>tTc	p.S1358F	SNED1_ENST00000342631.6_Missense_Mutation_p.S1325F|SNED1_ENST00000405547.3_Missense_Mutation_p.S1325F|MTERFD2_ENST00000464344.2_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1358					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S1338F(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGCTGTTCTCCGAGACAAAG	0.577																																																1	Substitution - Missense(1)	ovary(1)	2											191	206	201					2																	242021731		2032	4185	6217	241670404	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4073C>T	2.37:g.242021731C>T	ENSP00000308893:p.Ser1358Phe		241670404	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443319	0.63067	.	.	ENSG00000162804	ENST00000405547;ENST00000310397;ENST00000342631	D;D;D	0.84516	-1.78;-1.71;-1.86	4.48	4.48	0.54585	.	0.000000	0.38605	N	0.001624	D	0.89298	0.6675	L	0.47190	1.495	0.41761	D	0.989719	D;D	0.89917	0.998;1.0	D;D	0.91635	0.99;0.999	D	0.90603	0.4546	10	0.87932	D	0	.	13.8813	0.63684	0.0:1.0:0.0:0.0	.	1325;1358	B5MEF5;Q8TER0	.;SNED1_HUMAN	F	1325;1358;1325	ENSP00000386007:S1325F;ENSP00000308893:S1358F;ENSP00000342992:S1325F	ENSP00000308893:S1358F	S	+	2	0	SNED1	241670404	0.999000	0.42202	0.956000	0.39512	0.699000	0.40488	5.367000	0.66127	2.049000	0.60858	0.462000	0.41574	TCC		0.577	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		T	242021731	C	T	242021731	3	4	372	1	0	0	0	0	1	0	0	0	14848	855	30	2	4187	2	SNED1	2	242021731	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	44349453	242021731	1177642	6	20462											
ALDH1L1	10840	broad.mit.edu	37	3	125872370	125872370	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr3:125872370C>G	ENST00000393434.2	-	7	1124	c.775G>C	c.(775-777)Gac>Cac	p.D259H	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D269H|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D259H|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.D84H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D158H|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.D259H|ALDH1L1_ENST00000413612.1_5'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	259					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.D259H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGCAAAGCGTCTCCCTCGGGC	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											104	102	102					3																	125872370		2203	4300	6503	127355060	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.775G>C	3.37:g.125872370C>G	ENSP00000377083:p.Asp259His		127355060	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268180	0.23136	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.25	4.25	0.50352	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.500690	0.21188	N	0.078699	T	0.40645	0.1125	N	0.22421	0.69	0.35253	D	0.778901	P;P;B;D;B	0.57571	0.908;0.923;0.008;0.98;0.001	P;P;B;P;B	0.54759	0.607;0.726;0.013;0.76;0.008	T	0.54289	-0.8316	10	0.72032	D	0.01	.	10.1008	0.42504	0.0:0.7955:0.2045:0.0	.	84;158;311;164;259	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	H	269;259;158;259;259;84	ENSP00000273450:D269H;ENSP00000420293:D259H;ENSP00000395881:D158H;ENSP00000377083:D259H;ENSP00000377081:D259H;ENSP00000414126:D84H	ENSP00000273450:D269H	D	-	1	0	ALDH1L1	127355060	1.000000	0.71417	0.976000	0.42696	0.226000	0.24999	3.494000	0.53273	2.190000	0.69967	0.467000	0.42956	GAC		0.537	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		G	125872370	C	G	125872370	3	3	372	1	0	0	0	0	1	0	0	0	494	913	32	3	2001	3	ALDH1L1	3	125872370	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08		125872370	72150060	7	20463											
ABCC5	10057	broad.mit.edu	37	3	183639179	183639179	+	Missense_Mutation	SNP	A	A	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr3:183639179A>T	ENST00000334444.6	-	30	4463	c.4223T>A	c.(4222-4224)tTt>tAt	p.F1408Y	ABCC5_ENST00000265586.6_Missense_Mutation_p.F1365Y	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1408	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.F1408Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGGGTGTCAAACTCCACCAC	0.562																																																1	Substitution - Missense(1)	ovary(1)	3											82	90	87					3																	183639179		2089	4228	6317	185121873	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.4223T>A	3.37:g.183639179A>T	ENSP00000333926:p.Phe1408Tyr		185121873	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933867	0.52866	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	T;T	0.79454	-1.27;-1.27	4.92	4.92	0.64577	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	N	0.17901	0.54	0.51233	D	0.999915	B;B	0.28667	0.219;0.126	B;B	0.33042	0.157;0.1	T	0.63629	-0.6594	10	0.40728	T	0.16	-4.1637	9.896	0.41318	0.8478:0.0:0.0:0.1522	.	1365;1408	Q86UX3;O15440	.;MRP5_HUMAN	Y	1408;1365	ENSP00000333926:F1408Y;ENSP00000265586:F1365Y	ENSP00000265586:F1365Y	F	-	2	0	ABCC5	185121873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.884000	0.75600	1.840000	0.53500	0.482000	0.46254	TTT		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		T	183639179	A	T	183639179	3	4	372	1	0	0	0	0	1	0	0	0	56	14	1	5	94	5	ABCC5	3	183639179	Missense_Mutation	SNP	A	TCGA-31-1959-01A-01W-0699-08	57766809	183639179	14383251	8	20464											
FGFR3	2261	broad.mit.edu	37	4	1807576	1807576	+	Missense_Mutation	SNP	G	G	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr4:1807576G>T	ENST00000260795.2	+	12	1847	c.1745G>T	c.(1744-1746)tGc>tTc	p.C582F	FGFR3_ENST00000481110.2_Missense_Mutation_p.C583F|FGFR3_ENST00000352904.1_Missense_Mutation_p.C470F|FGFR3_ENST00000412135.2_Missense_Mutation_p.C470F|FGFR3_ENST00000440486.2_Missense_Mutation_p.C582F|FGFR3_ENST00000340107.4_Missense_Mutation_p.C584F			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	582	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.C582F(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TTCGACACCTGCAAGCCGCCC	0.682		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	1	Substitution - Missense(1)	ovary(1)	4											42	53	49					4																	1807576		2203	4298	6501	1777374	SO:0001583	missense	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1745G>T	4.37:g.1807576G>T	ENSP00000260795:p.Cys582Phe		1777374	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	12.56	1.974242	0.34848	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	4.32	4.32	0.51571	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87257	0.6132	N	0.21373	0.66	0.80722	D	1	B;P;B;B	0.48294	0.01;0.908;0.007;0.396	B;P;B;B	0.46543	0.033;0.52;0.021;0.064	D	0.89048	0.3453	10	0.54805	T	0.06	.	17.1556	0.86791	0.0:0.0:1.0:0.0	.	584;470;582;583	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	F	583;584;582;470;582;470	ENSP00000420533:C583F;ENSP00000339824:C584F;ENSP00000414914:C582F;ENSP00000412903:C470F;ENSP00000260795:C582F;ENSP00000231803:C470F	ENSP00000260795:C582F	C	+	2	0	FGFR3	1777374	1.000000	0.71417	0.998000	0.56505	0.216000	0.24613	4.537000	0.60643	2.119000	0.64992	0.297000	0.19635	TGC		0.682	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		T	1807576	G	T	1807576	3	4	372	1	0	0	0	0	1	0	0	0	5867	1319	46	3	1946	3	FGFR3	4	1807576	Missense_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08		1807576	189346700	9	20465											
CCDC158	339965	broad.mit.edu	37	4	77278575	77278575	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr4:77278575C>G	ENST00000388914.3	-	13	2277	c.2125G>C	c.(2125-2127)Gaa>Caa	p.E709Q	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	709								p.E709Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTGTCTGTTCTAGTTCAGAC	0.299																																																1	Substitution - Missense(1)	ovary(1)	4											130	123	125					4																	77278575		1845	4081	5926	77497599	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2125G>C	4.37:g.77278575C>G	ENSP00000373566:p.Glu709Gln		77497599	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547392	0.45383	.	.	ENSG00000163749	ENST00000388914	T	0.77489	-1.1	4.98	4.98	0.66077	.	0.086055	0.43747	D	0.000529	T	0.78679	0.4321	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.81315	-0.0988	10	0.54805	T	0.06	.	15.2713	0.73705	0.0:1.0:0.0:0.0	.	709	Q5M9N0	CD158_HUMAN	Q	709	ENSP00000373566:E709Q	ENSP00000373566:E709Q	E	-	1	0	CCDC158	77497599	0.990000	0.36364	0.976000	0.42696	0.926000	0.56050	2.433000	0.44793	2.588000	0.87417	0.460000	0.39030	GAA		0.299	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		G	77278575	C	G	77278575	3	3	372	1	0	0	0	0	1	0	0	0	2790	922	32	3	1264	3	CCDC158	4	77278575	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	75470999	77278575	113875701	10	20466											
C4orf21	55345	broad.mit.edu	37	4	113539115	113539115	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr4:113539115G>C	ENST00000505019.1	-	6	2208	c.2083C>G	c.(2083-2085)Caa>Gaa	p.Q695E	C4orf21_ENST00000445203.2_Missense_Mutation_p.Q664E|C4orf21_ENST00000309071.5_Missense_Mutation_p.Q695E	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		695						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q695E(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATCTGGTTTTGAATATGAGGA	0.308																																																1	Substitution - Missense(1)	ovary(1)	4											44	47	46					4																	113539115		2201	4297	6498	113758564	SO:0001583	missense	55345																														ENST00000505019.1:c.2083C>G	4.37:g.113539115G>C	ENSP00000424737:p.Gln695Glu		113758564	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	G	3.185	-0.167050	0.06461	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.81659	-1.52;1.98;1.56	4.96	-2.76	0.05896	.	1.904430	0.03088	N	0.159400	T	0.60856	0.2301	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.13407	0.004;0.009	T	0.49551	-0.8928	10	0.16896	T	0.51	1.194	7.5872	0.27999	0.3123:0.1485:0.5393:0.0	.	695;695	Q86YA3;G5EA02	CD021_HUMAN;.	E	695;695;664	ENSP00000424737:Q695E;ENSP00000309095:Q695E;ENSP00000390505:Q664E	ENSP00000309095:Q695E	Q	-	1	0	C4orf21	113758564	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.480000	0.22244	-0.371000	0.08004	-0.262000	0.10625	CAA		0.308	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			C	113539115	G	C	113539115	3	2	372	1	0	0	0	0	1	0	0	0	2254	1299	45	3	4323	3	C4orf21	4	113539115	Missense_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08	36260540	113539115	77615161	11	20467											
ADCY2	108	broad.mit.edu	37	5	7826918	7826918	+	Silent	SNP	C	C	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr5:7826918C>T	ENST00000338316.4	+	25	3299	c.3210C>T	c.(3208-3210)gaC>gaT	p.D1070D	ADCY2_ENST00000537121.1_Silent_p.D890D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1070					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D1070D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAAAGGGGGACCTGAAGACGT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	5											119	100	107					5																	7826918		2203	4300	6503	7879918	SO:0001819	synonymous_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3210C>T	5.37:g.7826918C>T			7879918	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																				0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7826918	C	T	7826918	2	4	372	1	0	0	0	0	0	0	0	1	294	506	18	2		2	ADCY2	5	7826918	Silent	SNP	C	TCGA-31-1959-01A-01W-0699-08		7826918	173088342	12	20468											
CTNND2	1501	broad.mit.edu	37	5	11236923	11236923	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr5:11236923C>G	ENST00000304623.8	-	10	1830	c.1641G>C	c.(1639-1641)tgG>tgC	p.W547C	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.W114C|CTNND2_ENST00000359640.2_Missense_Mutation_p.W547C|CTNND2_ENST00000503622.1_Missense_Mutation_p.W210C|CTNND2_ENST00000511377.1_Missense_Mutation_p.W456C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	547					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.W547C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCGGGTCTCTCCATCCAAATT	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											81	81	81					5																	11236923		2203	4300	6503	11289923	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1641G>C	5.37:g.11236923C>G	ENSP00000307134:p.Trp547Cys		11289923	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533805	0.85812	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.80994	-1.35;-1.38;-1.34;-1.44;-1.41	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.987	D	0.90725	0.4638	10	0.87932	D	0	-10.7502	20.0734	0.97734	0.0:1.0:0.0:0.0	.	210;114;547	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	C	547;547;456;114;210	ENSP00000307134:W547C;ENSP00000352661:W547C;ENSP00000426510:W456C;ENSP00000391155:W114C;ENSP00000426887:W210C	ENSP00000307134:W547C	W	-	3	0	CTNND2	11289923	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.751000	0.94390	0.555000	0.69702	TGG		0.483	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		G	11236923	C	G	11236923	3	3	372	1	0	0	0	0	1	0	0	0	4020	856	30	3	2088	3	CTNND2	5	11236923	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	3410005	11236923	169678337	13	20469											
FBN2	2201	broad.mit.edu	37	5	127710427	127710427	+	Silent	SNP	C	C	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr5:127710427C>T	ENST00000508053.1	-	21	2963	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	FBN2_ENST00000508989.1_Silent_p.Q630Q|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.Q663Q			P35556	FBN2_HUMAN	fibrillin 2	663	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.Q663Q(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCCTGGGGTCTGGCATTCAT	0.517																																																2	Substitution - coding silent(2)	ovary(2)	5											103	81	88					5																	127710427		2203	4300	6503	127738326	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1989G>A	5.37:g.127710427C>T			127738326	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.517	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127710427	C	T	127710427	2	4	372	1	0	0	0	0	0	0	0	1	5703	912	32	2		2	FBN2	5	127710427	Silent	SNP	C	TCGA-31-1959-01A-01W-0699-08	116473504	127710427	53204833	14	20470											
HIST1H2BJ	8970	broad.mit.edu	37	6	27100452	27100452	+	Silent	SNP	G	G	A	rs138662108		TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr6:27100452G>A	ENST00000607124.1	-	1	77	c.78C>T	c.(76-78)gaC>gaT	p.D26D	HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Silent_p.D26D|HIST1H2BJ_ENST00000541790.1_Silent_p.D26D			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	26					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D26D(1)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GCTTCTTGCCGTCTTTCTTCT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	6											140	136	138					6																	27100452		2203	4300	6503	27208431	SO:0001819	synonymous_variant	8970			X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.78C>T	6.37:g.27100452G>A			27208431	B2R4J4|O60816	Silent	SNP	ENST00000607124.1	37	CCDS4618.1																																																																																				0.562	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		A	27100452	G	A	27100452	2	1	372	1	0	0	0	0	0	0	0	1	7149	1136	40	1		1	HIST1H2BJ	6	27100452	Silent	SNP	G	TCGA-31-1959-01A-01W-0699-08		27100452	144014615	15	20471											
ABCC10	89845	broad.mit.edu	37	6	43406410	43406410	+	Silent	SNP	G	G	A			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr6:43406410G>A	ENST00000372530.4	+	8	2219	c.2004G>A	c.(2002-2004)ctG>ctA	p.L668L	ABCC10_ENST00000244533.3_Silent_p.L640L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	668	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L640L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GCTTTGGCCTGGCCACCCAGG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	6											101	95	97					6																	43406410		2203	4300	6503	43514388	SO:0001819	synonymous_variant	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2004G>A	6.37:g.43406410G>A			43514388	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	CCDS56430.1																																																																																				0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		A	43406410	G	A	43406410	2	1	372	1	0	0	0	0	0	0	0	1	50	1335	47	2		2	ABCC10	6	43406410	Silent	SNP	G	TCGA-31-1959-01A-01W-0699-08	16305958	43406410	127708657	16	20472											
EPDR1	54749	broad.mit.edu	37	7	37960418	37960418	+	5'UTR	SNP	A	A	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr7:37960418A>C	ENST00000199448.4	+	0	256				EPDR1_ENST00000559325.1_Silent_p.A79A|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000425345.1_5'Flank	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.A79A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GACAGGAAGCACTTTGGTCCA	0.682																																																1	Substitution - coding silent(1)	ovary(1)	7											27	37	34					7																	37960418		2203	4299	6502	37926943	SO:0001623	5_prime_UTR_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-124A>C	7.37:g.37960418A>C			37926943	A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	CCDS5454.2																																																																																				0.682	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		C	37960418	A	C	37960418	1	2	372	0	1	0	0	0	0	0	0	0	5163	146	6	5		5	EPDR1	7	37960418	5'UTR	SNP	A	TCGA-31-1959-01A-01W-0699-08		37960418	121178245	17	20473											
NPC1L1	29881	broad.mit.edu	37	7	44553115	44553115	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr7:44553115G>C	ENST00000289547.4	-	20	4066	c.4011C>G	c.(4009-4011)agC>agG	p.S1337R	NPC1L1_ENST00000546276.1_Missense_Mutation_p.S1264R|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1310R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1337					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.S1337R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AACCTTCAAAGCTGTGGTTGA	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											125	123	124					7																	44553115		2203	4300	6503	44519640	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.4011C>G	7.37:g.44553115G>C	ENSP00000289547:p.Ser1337Arg		44519640	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002101	0.35320	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93426	-3.1;-3.12;-3.22	3.59	3.59	0.41128	.	1.122620	0.06931	N	0.811083	D	0.83440	0.5255	N	0.08118	0	0.24129	N	0.995778	B;B;P	0.37015	0.41;0.41;0.578	B;B;B	0.30029	0.11;0.11;0.11	T	0.72750	-0.4199	10	0.15952	T	0.53	-14.629	11.0178	0.47701	0.0:0.0:1.0:0.0	.	1264;1310;1337	B7ZLE6;Q17RV5;D3DVK9	.;.;.	R	1337;1310;1264	ENSP00000289547:S1337R;ENSP00000370552:S1310R;ENSP00000438033:S1264R	ENSP00000289547:S1337R	S	-	3	2	NPC1L1	44519640	0.957000	0.32711	0.703000	0.30354	0.074000	0.17049	0.923000	0.28757	2.304000	0.77564	0.462000	0.41574	AGC		0.557	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		C	44553115	G	C	44553115	3	2	372	1	0	0	0	0	1	0	0	0	10571	962	34	3	72	3	NPC1L1	7	44553115	Missense_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08	6592697	44553115	114585548	18	20474											
ELN	2006	broad.mit.edu	37	7	73455561	73455561	+	Missense_Mutation	SNP	C	C	A	rs41350445	byFrequency	TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr7:73455561C>A	ENST00000252034.7	+	5	611	c.212C>A	c.(211-213)gCg>gAg	p.A71E	ELN_ENST00000445912.1_Missense_Mutation_p.A71E|ELN_ENST00000320399.6_Missense_Mutation_p.A71E|ELN_ENST00000357036.5_Missense_Mutation_p.A71E|ELN_ENST00000320492.7_Intron|ELN_ENST00000358929.4_Missense_Mutation_p.A71E|ELN_ENST00000380553.4_Missense_Mutation_p.A71E|ELN_ENST00000380575.4_Missense_Mutation_p.A61E|ELN_ENST00000380562.4_Missense_Mutation_p.A71E|ELN_ENST00000380576.5_Missense_Mutation_p.A71E|ELN_ENST00000429192.1_Missense_Mutation_p.A71E|ELN_ENST00000414324.1_Missense_Mutation_p.A61E|ELN_ENST00000380584.4_Missense_Mutation_p.A71E|ELN_ENST00000458204.1_Missense_Mutation_p.A61E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	71					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.A71E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGAGGGCTTGCGGGTGCTGGC	0.592			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	1	Substitution - Missense(1)	ovary(1)	7											238	232	234					7																	73455561		2203	4300	6503	73093497	SO:0001583	missense	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.212C>A	7.37:g.73455561C>A	ENSP00000252034:p.Ala71Glu		73093497	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	c	8.831	0.939940	0.18281	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380553;ENST00000380576;ENST00000428787;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T	0.77877	1.44;1.45;1.41;1.44;1.45;1.44;1.45;1.44;1.44;1.45;-1.13;1.45;1.43	3.11	-3.34	0.04943	.	.	.	.	.	T	0.61400	0.2344	L	0.56769	1.78	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;B;P	0.39131	0.661;0.491;0.661;0.661;0.661;0.661;0.661;0.661;0.661;0.661;0.661;0.434;0.661	B;B;B;B;B;B;B;B;B;B;B;B;B	0.34590	0.122;0.122;0.122;0.122;0.122;0.122;0.122;0.122;0.122;0.186;0.122;0.122;0.122	T	0.55134	-0.8188	9	0.06365	T	0.9	5.031	4.6386	0.12538	0.0:0.3025:0.2569:0.4406	.	71;71;61;61;71;61;71;71;71;71;61;71;71	E7ENM0;E9PBM4;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	E	71;71;71;61;71;61;71;61;71;71;71;71;71;71;71;71;71	ENSP00000389857:A71E;ENSP00000252034:A71E;ENSP00000351807:A71E;ENSP00000392575:A61E;ENSP00000369936:A71E;ENSP00000369949:A61E;ENSP00000369958:A71E;ENSP00000403162:A61E;ENSP00000349540:A71E;ENSP00000391129:A71E;ENSP00000369926:A71E;ENSP00000369950:A71E;ENSP00000313565:A71E	ENSP00000252034:A71E	A	+	2	0	ELN	73093497	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.132000	0.10467	-0.820000	0.04318	-2.735000	0.00129	GCG		0.592	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		A	73455561	C	A	73455561	3	1	372	1	0	0	0	0	1	0	0	0	5071	768	27	3	230	3	ELN	7	73455561	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	28902446	73455561	85683102	19	20475											
DGKI	9162	broad.mit.edu	37	7	137271924	137271924	+	Silent	SNP	C	C	A			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr7:137271924C>A	ENST00000288490.5	-	13	1344	c.1344G>T	c.(1342-1344)ctG>ctT	p.L448L	DGKI_ENST00000424189.2_Silent_p.L448L|DGKI_ENST00000453654.2_Silent_p.L148L|DGKI_ENST00000446122.1_Silent_p.L448L	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	448	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.L448L(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGCTCAGCTGCAGTTCATCCA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	7											59	57	58					7																	137271924		2203	4300	6503	136922464	SO:0001819	synonymous_variant	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1344G>T	7.37:g.137271924C>A			136922464	A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	CCDS5845.1																																																																																				0.532	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		A	137271924	C	A	137271924	2	1	372	1	0	0	0	0	0	0	0	1	4471	697	25	3		3	DGKI	7	137271924	Silent	SNP	C	TCGA-31-1959-01A-01W-0699-08	63816363	137271924	21866739	20	20476											
TRPS1	7227	broad.mit.edu	37	8	116631880	116631880	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr8:116631880G>A	ENST00000220888.5	-	2	565	c.406C>T	c.(406-408)Cct>Tct	p.P136S	TRPS1_ENST00000519674.1_Missense_Mutation_p.P136S|TRPS1_ENST00000520276.1_Missense_Mutation_p.P140S|TRPS1_ENST00000519076.1_Missense_Mutation_p.P90S|TRPS1_ENST00000395715.3_Missense_Mutation_p.P149S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	136					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P136S(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATATCTTGAGGGTCATCTGCC	0.527									Langer-Giedion syndrome																																							1	Substitution - Missense(1)	ovary(1)	8											66	66	66					8																	116631880		1931	4141	6072	116701055	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.406C>T	8.37:g.116631880G>A	ENSP00000220888:p.Pro136Ser		116701055	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	G	13.48	2.251093	0.39797	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98362	-4.89;-4.86;-4.83;-4.86;0.95	5.82	4.87	0.63330	.	0.079597	0.52532	D	0.000079	D	0.93772	0.8009	N	0.08118	0	0.32277	N	0.568075	B;B;B	0.18741	0.03;0.018;0.03	B;B;B	0.21917	0.037;0.016;0.022	D	0.92451	0.5970	10	0.62326	D	0.03	-9.2557	11.4999	0.50430	0.0:0.0:0.6124:0.3876	.	140;136;149	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	S	149;136;90;140;136	ENSP00000379065:P149S;ENSP00000220888:P136S;ENSP00000428910:P90S;ENSP00000428680:P140S;ENSP00000429174:P136S	ENSP00000220888:P136S	P	-	1	0	TRPS1	116701055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.992000	0.40737	2.751000	0.94390	0.650000	0.86243	CCT		0.527	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		A	116631880	G	A	116631880	3	1	372	1	0	0	0	0	1	0	0	0	16593	1232	43	2	3459	2	TRPS1	8	116631880	Missense_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08		116631880	29732142	21	20477											
BAI1	575	broad.mit.edu	37	8	143569728	143569728	+	Missense_Mutation	SNP	T	T	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr8:143569728T>C	ENST00000517894.1	+	14	3206	c.2312T>C	c.(2311-2313)cTc>cCc	p.L771P	BAI1_ENST00000323289.5_Missense_Mutation_p.L771P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	771					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L771P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCCAGTTCTCAGCATCCAT	0.637																																																1	Substitution - Missense(1)	ovary(1)	8											71	82	78					8																	143569728		2034	4210	6244	143566730	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2312T>C	8.37:g.143569728T>C	ENSP00000430945:p.Leu771Pro		143566730		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	T	16.40	3.112751	0.56398	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.19669	2.13;2.13	4.29	4.29	0.51040	.	0.000000	0.64402	U	0.000016	T	0.41050	0.1142	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.32508	-0.9904	10	0.87932	D	0	.	12.5498	0.56220	0.0:0.0:0.0:1.0	.	771	E9PBK0	.	P	771	ENSP00000430945:L771P;ENSP00000313046:L771P	ENSP00000313046:L771P	L	+	2	0	BAI1	143566730	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.287000	0.78681	1.710000	0.51325	0.260000	0.18958	CTC		0.637	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		C	143569728	T	C	143569728	3	2	372	1	0	0	0	0	1	0	0	0	1298	1551	54	4	2362	4	BAI1	8	143569728	Missense_Mutation	SNP	T	TCGA-31-1959-01A-01W-0699-08	26937848	143569728	2794294	22	20478											
SPTBN2	6712	broad.mit.edu	37	11	66466974	66466974	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr11:66466974G>A	ENST00000533211.1	-	18	4010	c.3679C>T	c.(3679-3681)Cgg>Tgg	p.R1227W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1227W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1227W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1227					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.R1227W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCGTGGATCCGTTCCCCATTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	11											109	101	104					11																	66466974		2200	4295	6495	66223550	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3679C>T	11.37:g.66466974G>A	ENSP00000432568:p.Arg1227Trp		66223550	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351438	0.61183	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.55588	0.51;0.51;0.51	5.16	5.16	0.70880	.	0.153310	0.44285	D	0.000465	T	0.61438	0.2347	L	0.40543	1.245	0.46981	D	0.999271	D	0.89917	1.0	D	0.70016	0.967	T	0.63189	-0.6693	10	0.87932	D	0	.	11.0476	0.47867	0.0:0.0:0.7114:0.2886	.	1227	O15020	SPTN2_HUMAN	W	1227	ENSP00000432568:R1227W;ENSP00000311489:R1227W;ENSP00000433593:R1227W	ENSP00000311489:R1227W	R	-	1	2	SPTBN2	66223550	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	4.628000	0.61282	2.670000	0.90874	0.591000	0.81541	CGG		0.567	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		A	66466974	G	A	66466974	3	1	372	1	0	0	0	0	1	0	0	0	15122	1144	40	1	3577	1	SPTBN2	11	66466974	Missense_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08		66466974	68539542	23	20479											
CLPB	81570	broad.mit.edu	37	11	72145490	72145490	+	Missense_Mutation	SNP	T	T	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr11:72145490T>C	ENST00000294053.3	-	1	202	c.29A>G	c.(28-30)aAa>aGa	p.K10R	CLPB_ENST00000538039.1_Missense_Mutation_p.K10R|CLPB_ENST00000340729.5_Missense_Mutation_p.K10R|CLPB_ENST00000445069.2_Missense_Mutation_p.K10R|CLPB_ENST00000437826.2_5'Flank|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000542555.1_5'Flank	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	10					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.K10R(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CGCCAGTGCTTTTCTCCTCAA	0.657											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	11											53	55	54					11																	72145490		2200	4293	6493	71823138	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.29A>G	11.37:g.72145490T>C	ENSP00000294053:p.Lys10Arg	1135	71823138	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.320685	0.41096	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000340729	T;T;T	0.63913	2.04;1.25;-0.07	4.52	2.54	0.30619	.	0.169160	0.36893	N	0.002351	T	0.35941	0.0949	N	0.08118	0	0.80722	D	1	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.15870	0.014;0.014;0.006	T	0.16571	-1.0398	10	0.56958	D	0.05	-4.9613	4.621	0.12449	0.1203:0.0:0.62:0.2596	.	10;10;10	F8W7P6;Q9H078-2;Q9H078	.;.;CLPB_HUMAN	R	10	ENSP00000294053:K10R;ENSP00000441518:K10R;ENSP00000340385:K10R	ENSP00000294053:K10R	K	-	2	0	CLPB	71823138	1.000000	0.71417	0.994000	0.49952	0.377000	0.30045	0.852000	0.27764	0.962000	0.38057	0.533000	0.62120	AAA		0.657	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		C	72145490	T	C	72145490	3	2	372	1	0	0	0	0	1	0	0	0	3551	1841	64	4	2162	4	CLPB	11	72145490	Missense_Mutation	SNP	T	TCGA-31-1959-01A-01W-0699-08	5678516	72145490	62861026	24	20480											
PUS1	80324	broad.mit.edu	37	12	132414548	132414548	+	Silent	SNP	C	C	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr12:132414548C>T	ENST00000376649.3	+	2	671	c.171C>T	c.(169-171)cgC>cgT	p.R57R	PUS1_ENST00000443358.2_Silent_p.R29R|PUS1_ENST00000440818.2_Silent_p.R29R|PUS1_ENST00000535067.1_Silent_p.R29R|PUS1_ENST00000542167.2_Intron|RP11-417L19.4_ENST00000539078.1_lincRNA	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	57					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)	p.R57R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GGGGCGACCGCGTCTGGGAGG	0.741																																					Esophageal Squamous(102;671 2009 17384 45666)											1	Substitution - coding silent(1)	ovary(1)	12											12	19	17					12																	132414548		2175	4273	6448	130980501	SO:0001819	synonymous_variant	80324			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.171C>T	12.37:g.132414548C>T			130980501	A8K877|B3KQC1|Q8WYT2|Q9BU44	Silent	SNP	ENST00000376649.3	37	CCDS9275.2																																																																																				0.741	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		T	132414548	C	T	132414548	2	4	372	1	0	0	0	0	0	0	0	1	12833	755	27	1		1	PUS1	12	132414548	Silent	SNP	C	TCGA-31-1959-01A-01W-0699-08		132414548	1437347	25	20481											
MYO16	23026	broad.mit.edu	37	13	109472689	109472690	+	Missense_Mutation	DNP	AT	AT	TA			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	AT	AT					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr13:109472689_109472690AT>TA	ENST00000357550.2	+	7	847_848	c.806_807AT>TA	c.(805-807)aAT>aTA	p.N269I	MYO16_ENST00000251041.5_Missense_Mutation_p.N269I|MYO16_ENST00000356711.2_Missense_Mutation_p.N269I	NM_001198950.1	NP_001185879.1			myosin XVI									p.N269I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTTCAGACAAATCTGGTGAAAC	0.455																																																1	Substitution - Missense(1)	ovary(1)	13																																								108270691	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	Exception_encountered	13.37:g.109472689_109472690delinsTA	ENSP00000350160:p.Asn269Ile		108270690		Missense_Mutation	DNP	ENST00000357550.2	37	CCDS32008.1																																																																																				0.455	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		TA	109472690	AT	TA	109472689	3	4	372	1	0	0	0	0	1	0	0	0	10064	101	4	5	832	5	MYO16	13	109472689	Missense_Mutation	DNP	AT	TCGA-31-1959-01A-01W-0699-08		109472689	5697189	26	20482											
CGRRF1	10668	broad.mit.edu	37	14	55004880	55004880	+	Missense_Mutation	SNP	T	T	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr14:55004880T>C	ENST00000216420.7	+	6	910	c.778T>C	c.(778-780)Tct>Cct	p.S260P	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	260					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.S260P(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GGTGGGACTCTCTGAAAGTGA	0.428																																																1	Substitution - Missense(1)	ovary(1)	14											108	100	103					14																	55004880		2203	4300	6503	54074630	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.778T>C	14.37:g.55004880T>C	ENSP00000216420:p.Ser260Pro		54074630	Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	37	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	T	6.790	0.514737	0.12944	.	.	ENSG00000100532	ENST00000216420	T	0.27256	1.68	5.31	-1.53	0.08611	.	0.662690	0.15439	N	0.262295	T	0.20088	0.0483	L	0.46157	1.445	0.09310	N	1	B	0.22909	0.077	B	0.25759	0.063	T	0.27502	-1.0072	10	0.62326	D	0.03	-1.1262	7.9791	0.30172	0.1803:0.0:0.4602:0.3595	.	260	Q99675	CGRF1_HUMAN	P	260	ENSP00000216420:S260P	ENSP00000216420:S260P	S	+	1	0	CGRRF1	54074630	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.042000	0.13949	0.092000	0.17331	0.482000	0.46254	TCT		0.428	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		C	55004880	T	C	55004880	3	2	372	1	0	0	0	0	1	0	0	0	3306	1551	54	4	800	4	CGRRF1	14	55004880	Missense_Mutation	SNP	T	TCGA-31-1959-01A-01W-0699-08		55004880	52344660	27	20483											
NDN	4692	broad.mit.edu	37	15	23932244	23932244	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr15:23932244G>A	ENST00000331837.4	-	1	206	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	41					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P41S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGCTCTGCGGCTCTGCCAGG	0.726									Prader-Willi syndrome																																							1	Substitution - Missense(1)	ovary(1)	15											8	9	9					15																	23932244		1689	3312	5001	21483337	SO:0001583	missense	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.121C>T	15.37:g.23932244G>A	ENSP00000332643:p.Pro41Ser		21483337	B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370427	0.24771	.	.	ENSG00000182636	ENST00000331837	T	0.02177	4.41	3.09	0.0374	0.14196	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49113	-0.8973	9	0.21540	T	0.41	.	2.6315	0.04946	0.261:0.0:0.5115:0.2275	.	41	Q99608	NECD_HUMAN	S	41	ENSP00000332643:P41S	ENSP00000332643:P41S	P	-	1	0	NDN	21483337	0.037000	0.19845	0.008000	0.14137	0.023000	0.10783	0.980000	0.29513	0.012000	0.14892	0.561000	0.74099	CCG		0.726	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		A	23932244	G	A	23932244	3	1	372	1	0	0	0	0	1	0	0	0	10247	1203	42	2	848	2	NDN	15	23932244	Missense_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08		23932244	78599148	28	20484											
VPS13C	54832	broad.mit.edu	37	15	62201253	62201253	+	Silent	SNP	C	C	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr15:62201253C>T	ENST00000261517.5	-	65	8989	c.8916G>A	c.(8914-8916)gaG>gaA	p.E2972E	VPS13C_ENST00000249837.3_Silent_p.E2929E|VPS13C_ENST00000395896.4_Silent_p.E2972E|VPS13C_ENST00000395898.3_Silent_p.E2929E	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.E2972E(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTGCAGATCCCTCATGGTAAT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	15											157	144	149					15																	62201253		2203	4300	6503	59988545	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8916G>A	15.37:g.62201253C>T			59988545		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																				0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		T	62201253	C	T	62201253	2	4	372	1	0	0	0	0	0	0	0	1	17191	680	24	2		2	VPS13C	15	62201253	Silent	SNP	C	TCGA-31-1959-01A-01W-0699-08	38269009	62201253	40330139	29	20485											
PRC1	9055	broad.mit.edu	37	15	91524227	91524227	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr15:91524227C>G	ENST00000361188.5	-	6	1920	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.E237Q|PRC1_ENST00000394249.3_Missense_Mutation_p.E237Q|PRC1_ENST00000442656.2_Missense_Mutation_p.E196Q					protein regulator of cytokinesis 1									p.E237Q(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGCAGCCCCTCACACACTGCT	0.507																																																1	Substitution - Missense(1)	ovary(1)	15											110	107	108					15																	91524227		2198	4298	6496	89325231	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.709G>C	15.37:g.91524227C>G	ENSP00000354679:p.Glu237Gln		89325231		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068059	0.36470	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656;ENST00000556982	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.19	5.19	0.71726	.	0.240235	0.41605	D	0.000850	T	0.40979	0.1139	L	0.39514	1.22	0.38511	D	0.948472	D;D;D;D	0.63046	0.991;0.991;0.991;0.992	P;P;P;D	0.63703	0.865;0.907;0.865;0.917	T	0.09378	-1.0677	10	0.02654	T	1	.	18.5027	0.90888	0.0:1.0:0.0:0.0	.	196;237;237;237	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	Q	237;237;237;196;11	ENSP00000377793:E237Q;ENSP00000354618:E237Q;ENSP00000354679:E237Q;ENSP00000409549:E196Q	ENSP00000354679:E237Q	E	-	1	0	PRC1	89325231	0.608000	0.26966	0.998000	0.56505	0.023000	0.10783	1.659000	0.37387	2.711000	0.92665	0.655000	0.94253	GAG		0.507	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		G	91524227	C	G	91524227	3	3	372	1	0	0	0	0	1	0	0	0	12449	835	29	3	1193	3	PRC1	15	91524227	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	29322974	91524227	11007165	30	20486											
SYNM	23336	broad.mit.edu	37	15	99672905	99672905	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr15:99672905C>G	ENST00000336292.6	+	5	4457	c.4337C>G	c.(4336-4338)aCg>aGg	p.T1446R	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1447	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGCAGCAGAACGCTAAGGCAC	0.542																																					Pancreas(125;1071 1762 21750 40003 40381)											0			15											185	190	188					15																	99672905		2106	4218	6324	97490428	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4337C>G	15.37:g.99672905C>G	ENSP00000336775:p.Thr1446Arg		97490428	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37		.	.	.	.	.	.	.	.	.	.	C	14.70	2.613985	0.46631	.	.	ENSG00000182253	ENST00000336292	T	0.17691	2.26	5.11	1.09	0.20402	.	.	.	.	.	T	0.15176	0.0366	.	.	.	0.09310	N	1	B	0.27951	0.195	B	0.33042	0.157	T	0.30208	-0.9986	8	0.87932	D	0	.	6.7538	0.23501	0.0:0.6571:0.127:0.2159	.	1447	O15061	SYNEM_HUMAN	R	1446	ENSP00000336775:T1446R	ENSP00000336775:T1446R	T	+	2	0	SYNM	97490428	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.990000	0.29642	-0.048000	0.13401	-0.743000	0.03520	ACG		0.542	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		G	99672905	C	G	99672905	3	3	372	1	0	0	0	0	1	0	0	0	15455	536	19	3	4353	3	SYNM	15	99672905	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	8148678	99672905	2858487	31	20487											
GSPT1	2935	broad.mit.edu	37	16	11980775	11980775	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr16:11980775C>T	ENST00000563468.1	-	6	583	c.557G>A	c.(556-558)aGg>aAg	p.R186K	GSPT1_ENST00000439887.2_Missense_Mutation_p.R323K|GSPT1_ENST00000434724.2_Missense_Mutation_p.R324K|GSPT1_ENST00000420576.2_Missense_Mutation_p.R186K|GSPT1_ENST00000564790.1_5'Flank|RP11-166B2.8_ENST00000574364.1_RNA			P15170	ERF3A_HUMAN	G1 to S phase transition 1	186	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)	p.R186K(1)		breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						CTCTCCTTTCCTGGCTGAGAT	0.398																																																1	Substitution - Missense(1)	ovary(1)	16											164	161	162					16																	11980775		2124	4261	6385	11888276	SO:0001583	missense	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.557G>A	16.37:g.11980775C>T	ENSP00000454351:p.Arg186Lys		11888276	J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	37	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156607	0.94686	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.70164	-0.46;-0.46;-0.46	5.51	5.51	0.81932	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	U	0.000000	D	0.82604	0.5073	M	0.86953	2.85	0.80722	D	1	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.60068	0.868;0.868;0.868	D	0.84124	0.0408	10	0.48119	T	0.1	-13.7821	17.981	0.89141	0.0:1.0:0.0:0.0	.	323;320;186	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	K	324;323;186	ENSP00000398131:R324K;ENSP00000408399:R323K;ENSP00000399539:R186K	ENSP00000399539:R186K	R	-	2	0	GSPT1	11888276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.584000	0.87258	0.561000	0.74099	AGG		0.398	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		T	11980775	C	T	11980775	3	4	372	1	0	0	0	0	1	0	0	0	6826	681	24	2	974	2	GSPT1	16	11980775	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08		11980775	78373978	32	20488											
ZNF821	55565	broad.mit.edu	37	16	71894401	71894401	+	Silent	SNP	G	G	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr16:71894401G>T	ENST00000565601.1	-	7	1166	c.759C>A	c.(757-759)ccC>ccA	p.P253P	ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000425432.1_Silent_p.P253P|ZNF821_ENST00000446827.2_Silent_p.P211P|ZNF821_ENST00000313565.6_Silent_p.P211P	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P211P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TGCGTACACTGGGAGTCTGGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	16											108	97	101					16																	71894401		2198	4300	6498	70451902	SO:0001819	synonymous_variant	55565			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.759C>A	16.37:g.71894401G>T			70451902	A6NK48|B4DKK4|D3DWS3	Silent	SNP	ENST00000565601.1	37	CCDS56006.1																																																																																				0.567	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		T	71894401	G	T	71894401	2	4	372	1	0	0	0	0	0	0	0	1	18178	1335	47	3		3	ZNF821	16	71894401	Silent	SNP	G	TCGA-31-1959-01A-01W-0699-08	59913626	71894401	18460352	33	20489											
TRPV3	162514	broad.mit.edu	37	17	3458091	3458091	+	Silent	SNP	G	G	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr17:3458091G>C	ENST00000576742.1	-	2	375	c.54C>G	c.(52-54)gcC>gcG	p.A18A	TRPV3_ENST00000572519.1_Silent_p.A18A|TRPV3_ENST00000301365.4_Silent_p.A18A	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	18					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.A18A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCCCACTGGGGGCAGCAACTC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	17											42	43	43					17																	3458091		2203	4300	6503	3404841	SO:0001819	synonymous_variant	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.54C>G	17.37:g.3458091G>C			3404841	Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	CCDS11029.1																																																																																				0.627	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		C	3458091	G	C	3458091	2	2	372	1	0	0	0	0	0	0	0	1	16597	1219	43	3		3	TRPV3	17	3458091	Silent	SNP	G	TCGA-31-1959-01A-01W-0699-08		3458091	77737119	34	20490											
MED11	400569	broad.mit.edu	37	17	4635181	4635181	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr17:4635181C>A	ENST00000293777.5	+	2	252	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'Flank|MED11_ENST00000575284.1_Missense_Mutation_p.Q66K|MED11_ENST00000573708.1_Missense_Mutation_p.Q66K	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	66						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q66K(1)		lung(2)|ovary(2)	4						GCTGTCAGCTCAGATCCGCTA	0.612											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	17											38	40	39					17																	4635181		2203	4300	6503	4581930	SO:0001583	missense	400569			AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.196C>A	17.37:g.4635181C>A	ENSP00000293777:p.Gln66Lys	620	4581930	Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920055	0.92249	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.68317	2.08	0.80722	D	1	P	0.47034	0.889	P	0.45406	0.479	T	0.68127	-0.5491	9	0.72032	D	0.01	-20.0936	17.5022	0.87735	0.0:1.0:0.0:0.0	.	66	Q9P086	MED11_HUMAN	K	66	.	ENSP00000293777:Q66K	Q	+	1	0	MED11	4581930	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.088000	0.71371	2.727000	0.93392	0.655000	0.94253	CAG		0.612	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		A	4635181	C	A	4635181	3	1	372	1	0	0	0	0	1	0	0	0	9427	827	29	3	202	3	MED11	17	4635181	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	1177090	4635181	76560029	35	20491											
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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"	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	17	GRCh37	CM034930	TP53	M							132	103	113					17																	7577568		2203	4300	6503	7518293	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.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe		7518293	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577568	C	A	7577568	3	1	372	1	0	0	0	0	1	0	0	0	16381	478	17	3	577	3	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	2942387	7577568	73617642	36	20492											
ETV4	2118	broad.mit.edu	37	17	41606539	41606539	+	Silent	SNP	C	C	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr17:41606539C>G	ENST00000319349.5	-	12	1492	c.1194G>C	c.(1192-1194)tcG>tcC	p.S398S	ETV4_ENST00000591713.1_Silent_p.S398S|ETV4_ENST00000545954.1_Silent_p.S359S|ETV4_ENST00000586826.1_Silent_p.S121S|ETV4_ENST00000545089.1_Silent_p.S344S|ETV4_ENST00000538265.1_Silent_p.S359S|ETV4_ENST00000393664.2_Silent_p.S398S	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	398					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S398S(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		AGTATCGGAGCGAGCGGCTCA	0.567			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)		Dom	yes		17	17q21	2118	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"		"M, E"	1	Substitution - coding silent(1)	ovary(1)	17											154	149	151					17																	41606539		2203	4300	6503	38962065	SO:0001819	synonymous_variant	2118			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.1194G>C	17.37:g.41606539C>G			38962065	A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	CCDS11465.1																																																																																				0.567	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		G	41606539	C	G	41606539	2	3	372	1	0	0	0	0	0	0	0	1	5281	755	27	3		3	ETV4	17	41606539	Silent	SNP	C	TCGA-31-1959-01A-01W-0699-08	34028971	41606539	39588671	37	20493											
CA4	762	broad.mit.edu	37	17	58236639	58236639	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr17:58236639A>G	ENST00000300900.4	+	8	892	c.793A>G	c.(793-795)Agc>Ggc	p.S265G		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	265					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.S265G(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	ACAGACAGTGAGCATGAAGGA	0.647																																																1	Substitution - Missense(1)	ovary(1)	17											34	22	26					17																	58236639		2203	4300	6503	55591421	SO:0001583	missense	762			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.793A>G	17.37:g.58236639A>G	ENSP00000300900:p.Ser265Gly		55591421	B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	A	6.494	0.459322	0.12342	.	.	ENSG00000167434	ENST00000300900	T	0.68025	-0.3	3.3	2.22	0.28083	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.247480	0.05277	N	0.518714	T	0.47948	0.1473	N	0.17723	0.515	0.09310	N	1	B	0.27117	0.168	B	0.18561	0.022	T	0.32025	-0.9922	10	0.23302	T	0.38	.	5.2565	0.15550	0.8677:0.0:0.1323:0.0	.	265	P22748	CAH4_HUMAN	G	265	ENSP00000300900:S265G	ENSP00000300900:S265G	S	+	1	0	CA4	55591421	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.272000	0.08560	0.669000	0.31146	0.454000	0.30748	AGC		0.647	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		G	58236639	A	G	58236639	3	3	372	1	0	0	0	0	1	0	0	0	2518	304	11	4	823	4	CA4	17	58236639	Missense_Mutation	SNP	A	TCGA-31-1959-01A-01W-0699-08	16630100	58236639	22958571	38	20494											
TMC8	147138	broad.mit.edu	37	17	76134472	76134472	+	Missense_Mutation	SNP	C	C	T	rs199993214		TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr17:76134472C>T	ENST00000318430.5	+	13	1950	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.R303C	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	526					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)	p.R526C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCGGCCCTTCCGTGCCTCCAG	0.617													C|||	1	0.000199681	0	0	5008	,	,		18763	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	17											74	76	76					17																	76134472		2203	4300	6503	73646067	SO:0001583	missense	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1576C>T	17.37:g.76134472C>T	ENSP00000325561:p.Arg526Cys		73646067	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	CCDS32749.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.90	3.249925	0.59212	.	.	ENSG00000167895	ENST00000318430	T	0.71579	-0.58	4.84	4.84	0.62591	.	0.124359	0.56097	D	0.000039	D	0.83727	0.5317	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85954	0.1466	10	0.87932	D	0	-16.3831	12.206	0.54353	0.1711:0.8289:0.0:0.0	.	526	Q8IU68	TMC8_HUMAN	C	526	ENSP00000325561:R526C	ENSP00000325561:R526C	R	+	1	0	TMC8	73646067	1.000000	0.71417	0.988000	0.46212	0.219000	0.24729	2.331000	0.43894	2.379000	0.81126	0.563000	0.77884	CGT		0.617	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			T	76134472	C	T	76134472	3	4	372	1	0	0	0	0	1	0	0	0	15991	652	23	1	1622	1	TMC8	17	76134472	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	17897833	76134472	5060738	39	20495											
C18orf45	85019	broad.mit.edu	37	18	20878004	20878004	+	Silent	SNP	G	G	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr18:20878004G>T	ENST00000383233.3	-	15	910	c.858C>A	c.(856-858)gcC>gcA	p.A286A	TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000475185.1_5'UTR|TMEM241_ENST00000542162.1_3'UTR	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	286						integral component of membrane (GO:0016021)		p.A286A(1)									AAACCAGCAAGGCCTCTCCAA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	18											77	81	80					18																	20878004		1993	4164	6157	19132002	SO:0001819	synonymous_variant	85019			BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"chromosome 18 open reading frame 45"	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.858C>A	18.37:g.20878004G>T			19132002	I0J130|Q6ZTS7|Q6ZW41	Silent	SNP	ENST00000383233.3	37	CCDS11876.2																																																																																				0.597	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933		T	20878004	G	T	20878004	2	4	372	1	0	0	0	0	0	0	0	1	1903	987	35	3		3	C18orf45	18	20878004	Silent	SNP	G	TCGA-31-1959-01A-01W-0699-08		20878004	57199244	40	20496											
C18orf34	374864	broad.mit.edu	37	18	30928909	30928909	+	Missense_Mutation	SNP	T	T	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr18:30928909T>G	ENST00000383096.3	-	8	584	c.402A>C	c.(400-402)aaA>aaC	p.K134N	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.K134N|CCDC178_ENST00000406524.2_Missense_Mutation_p.K134N|CCDC178_ENST00000579947.1_Missense_Mutation_p.K134N|CCDC178_ENST00000300227.8_Missense_Mutation_p.K134N|CCDC178_ENST00000583930.1_Missense_Mutation_p.K134N|CCDC178_ENST00000402325.1_Missense_Mutation_p.K134N			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	134								p.K134N(1)									TCCAATCTTCTTTCAGGTCTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	18											135	117	123					18																	30928909		2203	4300	6503	29182907	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.402A>C	18.37:g.30928909T>G	ENSP00000372576:p.Lys134Asn		29182907	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671820	0.29693	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.48836	2.39;2.39;2.39;2.39;2.39;0.8	3.82	0.948	0.19561	.	.	.	.	.	T	0.49133	0.1539	L	0.50333	1.59	0.09310	N	1	D;P;B;B	0.54964	0.969;0.867;0.337;0.337	P;P;B;B	0.55824	0.785;0.45;0.116;0.116	T	0.32481	-0.9905	9	0.31617	T	0.26	-1.8319	5.1944	0.15227	0.0:0.3508:0.0:0.6492	.	134;134;134;134	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	N	134	ENSP00000385591:K134N;ENSP00000372576:K134N;ENSP00000300227:K134N;ENSP00000385867:K134N;ENSP00000385234:K134N;ENSP00000382130:K134N	ENSP00000300227:K134N	K	-	3	2	C18orf34	29182907	0.012000	0.17670	0.060000	0.19600	0.711000	0.40976	0.058000	0.14301	0.180000	0.19960	0.482000	0.46254	AAA		0.343	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		G	30928909	T	G	30928909	3	3	372	1	0	0	0	0	1	0	0	0	1902	1606	56	5	2265	5	C18orf34	18	30928909	Missense_Mutation	SNP	T	TCGA-31-1959-01A-01W-0699-08	10050905	30928909	47148339	41	20497											
ZNF91	7644	broad.mit.edu	37	19	23545146	23545146	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr19:23545146C>T	ENST00000300619.7	-	4	840	c.635G>A	c.(634-636)tGt>tAt	p.C212Y	ZNF91_ENST00000397082.2_Missense_Mutation_p.C180Y|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	212					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C212S(1)|p.C212Y(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTCTTTACATTTACAGGA	0.323																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	19											72	76	75					19																	23545146		2124	4266	6390	23336986	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.635G>A	19.37:g.23545146C>T	ENSP00000300619:p.Cys212Tyr		23336986	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	6.385	0.439080	0.12104	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.38560	1.13;1.13	1.64	0.469	0.16741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47340	0.1440	H	0.96633	3.855	0.19300	N	0.999975	P;P	0.45348	0.856;0.775	B;B	0.31101	0.124;0.058	T	0.53315	-0.8456	9	0.87932	D	0	.	5.6078	0.17389	0.0:0.7926:0.0:0.2074	.	180;212	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	212;180	ENSP00000300619:C212Y;ENSP00000380272:C180Y	ENSP00000300619:C212Y	C	-	2	0	ZNF91	23336986	0.992000	0.36948	0.005000	0.12908	0.009000	0.06853	4.975000	0.63777	0.008000	0.14787	0.174000	0.16983	TGT		0.323	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		T	23545146	C	T	23545146	3	4	372	1	0	0	0	0	1	0	0	0	18200	478	17	2	2944	2	ZNF91	19	23545146	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08		23545146	35583837	42	20498											
SHKBP1	92799	broad.mit.edu	37	19	41094995	41094995	+	Silent	SNP	C	C	T	rs373280102		TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr19:41094995C>T	ENST00000291842.5	+	15	1549	c.1500C>T	c.(1498-1500)taC>taT	p.Y500Y	SHKBP1_ENST00000600733.1_Silent_p.Y475Y|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	500					protein homooligomerization (GO:0051260)			p.Y500Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGCCCCTACGGTGAGCGGG	0.637																																																1	Substitution - coding silent(1)	ovary(1)	19						C		1,4405	2.1+/-5.4	0,1,2202	53	45	48		1500	-3.6	0.6	19		48	0,8600		0,0,4300	no	coding-synonymous	SHKBP1	NM_138392.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		500/708	41094995	1,13005	2203	4300	6503	45786835	SO:0001819	synonymous_variant	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1500C>T	19.37:g.41094995C>T			45786835	Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	CCDS12560.1																																																																																				0.637	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		T	41094995	C	T	41094995	2	4	372	1	0	0	0	0	0	0	0	1	14287	547	19	1		1	SHKBP1	19	41094995	Silent	SNP	C	TCGA-31-1959-01A-01W-0699-08	17549849	41094995	18033988	43	20499											
RSPH6A	81492	broad.mit.edu	37	19	46317996	46317997	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr19:46317996_46317997CC>AA	ENST00000221538.3	-	1	580_581	c.438_439GG>TT	c.(436-441)ttGGgc>ttTTgc	p.146_147LG>FC	SYMPK_ENST00000598155.1_5'Flank|RSPH6A_ENST00000597055.1_Missense_Mutation_p.146_147LG>FC	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	146						intracellular (GO:0005622)		p.L146_G147>FC(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TTGAACTGGCCCAAGGGGTTGA	0.599																																																1	Complex - compound substitution(1)	ovary(1)	19																																								51009837	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.438_439delinsAA	19.37:g.46317996_46317997delinsAA	ENSP00000221538:p.L146_G147delinsFC		51009836	Q53FE2|Q6PEZ9	Missense_Mutation	DNP	ENST00000221538.3	37	CCDS12675.1																																																																																				0.599	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			AA	46317997	CC	AA	46317996	3	1	372	1	0	0	0	0	1	0	0	0	13710	623	22	3	1738	3	RSPH6A	19	46317996	Missense_Mutation	DNP	CC	TCGA-31-1959-01A-01W-0699-08	5223001	46317996	12810987	44	20500											
NLRP12	91662	broad.mit.edu	37	19	54312964	54312964	+	Missense_Mutation	SNP	G	G	C	rs373806981		TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr19:54312964G>C	ENST00000324134.6	-	3	2117	c.1949C>G	c.(1948-1950)tCc>tGc	p.S650C	NLRP12_ENST00000345770.5_Missense_Mutation_p.S650C|NLRP12_ENST00000351894.4_Missense_Mutation_p.S650C|NLRP12_ENST00000354278.3_Missense_Mutation_p.S650C|NLRP12_ENST00000535162.1_Missense_Mutation_p.S650C|NLRP12_ENST00000391772.1_Missense_Mutation_p.S650C|NLRP12_ENST00000391773.1_Missense_Mutation_p.S650C|NLRP12_ENST00000391775.3_Missense_Mutation_p.S650C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	650					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.S650C(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACAGAACGAGGAGACCATGTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											69	63	65					19																	54312964		2203	4300	6503	59004776	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1949C>G	19.37:g.54312964G>C	ENSP00000319377:p.Ser650Cys		59004776	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	6.971	0.549075	0.13312	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	4.05	1.83	0.25207	.	0.445392	0.16561	N	0.209031	D	0.84588	0.5505	L	0.37507	1.11	0.19945	N	0.999944	B;B;B;B	0.18461	0.028;0.028;0.001;0.017	B;B;B;B	0.18263	0.018;0.018;0.001;0.021	T	0.72597	-0.4245	10	0.39692	T	0.17	.	10.8956	0.47021	0.0:0.4676:0.5324:0.0	.	650;650;650;650	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	C	650	ENSP00000319377:S650C;ENSP00000438030:S650C;ENSP00000340473:S650C;ENSP00000346231:S650C;ENSP00000375655:S650C;ENSP00000375653:S650C;ENSP00000375652:S650C	ENSP00000319377:S650C	S	-	2	0	NLRP12	59004776	0.006000	0.16342	0.005000	0.12908	0.021000	0.10359	1.809000	0.38922	0.297000	0.22615	-0.410000	0.06199	TCC		0.607	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		C	54312964	G	C	54312964	3	2	372	1	0	0	0	0	1	0	0	0	10474	1174	41	3	1364	3	NLRP12	19	54312964	Missense_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08	7994968	54312964	4816019	45	20501											
LILRA5	353514	broad.mit.edu	37	19	54822927	54822927	+	Missense_Mutation	SNP	T	T	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr19:54822927T>C	ENST00000301219.3	-	5	588	c.469A>G	c.(469-471)Aac>Gac	p.N157D	LILRA5_ENST00000432233.3_Missense_Mutation_p.N157D|LILRA5_ENST00000446712.3_Missense_Mutation_p.N145D|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.N145D	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	157	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N157D(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTCACGTTCTCTCCTGAG	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											82	81	82					19																	54822927		2203	4300	6503	59514739	SO:0001583	missense	353514			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.469A>G	19.37:g.54822927T>C	ENSP00000301219:p.Asn157Asp		59514739	A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661078	0.47572	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.00824	5.65;5.65;5.65;5.65	2.61	2.61	0.31194	Immunoglobulin-like fold (1);	1.492870	0.04804	U	0.434106	T	0.03783	0.0107	M	0.89163	3.01	0.09310	N	1	P;P;P;P	0.40834	0.625;0.678;0.654;0.73	B;B;B;P	0.45856	0.259;0.233;0.303;0.495	T	0.39313	-0.9620	10	0.87932	D	0	.	6.9932	0.24767	0.0:0.0:0.0:1.0	.	145;157;145;157	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	D	157;145;145;157	ENSP00000301219:N157D;ENSP00000302948:N145D;ENSP00000389499:N145D;ENSP00000404236:N157D	ENSP00000301219:N157D	N	-	1	0	LILRA5	59514739	0.000000	0.05858	0.012000	0.15200	0.006000	0.05464	0.166000	0.16583	1.214000	0.43395	0.172000	0.16884	AAC		0.567	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		C	54822927	T	C	54822927	3	2	372	1	0	0	0	0	1	0	0	0	8788	1783	62	4	528	4	LILRA5	19	54822927	Missense_Mutation	SNP	T	TCGA-31-1959-01A-01W-0699-08	509963	54822927	4306056	46	20502											
SLC4A11	83959	broad.mit.edu	37	20	3210863	3210863	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr20:3210863C>G	ENST00000380056.3	-	12	1554	c.1507G>C	c.(1507-1509)Gtg>Ctg	p.V503L	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Missense_Mutation_p.V530L|SLC4A11_ENST00000539553.2_Missense_Mutation_p.V487L	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	503	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.V503L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCATCCAGCACAAACGTGATG	0.622																																					NSCLC(190;922 2139 10266 10292 38692)											1	Substitution - Missense(1)	ovary(1)	20											94	85	88					20																	3210863		2203	4300	6503	3158863	SO:0001583	missense	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1507G>C	20.37:g.3210863C>G	ENSP00000369396:p.Val503Leu		3158863	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631907	0.29068	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.78924	-1.22;-1.22;-1.22	5.21	2.09	0.27110	Bicarbonate transporter, C-terminal (1);	0.522767	0.18903	N	0.127985	T	0.68897	0.3051	L	0.51853	1.615	0.58432	D	0.999996	B;B;B	0.28324	0.101;0.207;0.123	B;B;B	0.29353	0.042;0.101;0.07	T	0.61456	-0.7059	10	0.51188	T	0.08	.	6.9267	0.24419	0.1393:0.7033:0.0:0.1574	.	487;530;503	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	L	530;503;487	ENSP00000369399:V530L;ENSP00000369396:V503L;ENSP00000441370:V487L	ENSP00000369396:V503L	V	-	1	0	SLC4A11	3158863	1.000000	0.71417	0.115000	0.21578	0.329000	0.28539	2.522000	0.45572	0.165000	0.19558	0.563000	0.77884	GTG		0.622	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			G	3210863	C	G	3210863	3	3	372	1	0	0	0	0	1	0	0	0	14655	478	17	3	1200	3	SLC4A11	20	3210863	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08		3210863	59814657	47	20503											
PROKR2	128674	broad.mit.edu	37	20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T	rs576243101		TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr20:5282783C>T	ENST00000217270.3	-	2	1057	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R353H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	353					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R353H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			C|||	1	0.000199681	8e-04	0	5008	,	,		24072	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	20											206	166	179					20																	5282783		2203	4300	6503	5230783	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1058G>A	20.37:g.5282783C>T	ENSP00000217270:p.Arg353His		5230783	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999680	0.54147	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.38401	1.14;1.14	5.05	4.1	0.47936	.	0.060269	0.64402	D	0.000009	T	0.34048	0.0884	M	0.62723	1.935	0.49213	D	0.999764	P	0.49447	0.924	B	0.40038	0.317	T	0.23084	-1.0198	10	0.44086	T	0.13	.	11.623	0.51130	0.0:0.9101:0.0:0.0899	.	353	Q8NFJ6	PKR2_HUMAN	H	353	ENSP00000440790:R353H;ENSP00000217270:R353H	ENSP00000217270:R353H	R	-	2	0	PROKR2	5230783	0.141000	0.22595	0.989000	0.46669	0.516000	0.34256	0.683000	0.25349	2.370000	0.80446	0.655000	0.94253	CGT		0.557	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		T	5282783	C	T	5282783	3	4	372	1	0	0	0	0	1	0	0	0	12556	536	19	1	99	1	PROKR2	20	5282783	Missense_Mutation	SNP	C	TCGA-31-1959-01A-01W-0699-08	2071920	5282783	57742737	48	20504											
MYH7B	57644	broad.mit.edu	37	20	33586666	33586666	+	Missense_Mutation	SNP	A	A	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr20:33586666A>C	ENST00000262873.7	+	33	4356	c.4264A>C	c.(4264-4266)Agc>Cgc	p.S1422R		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1380						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1422R(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCAGTGGAGGAGCAAGTACGA	0.632																																																1	Substitution - Missense(1)	ovary(1)	20											26	30	28					20																	33586666		2202	4298	6500	33050327	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4264A>C	20.37:g.33586666A>C	ENSP00000262873:p.Ser1422Arg		33050327	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.127883	0.56721	.	.	ENSG00000078814	ENST00000262873	T	0.79352	-1.26	4.65	4.65	0.58169	Myosin tail (1);	0.000000	0.45361	D	0.000376	T	0.65933	0.2739	L	0.35723	1.085	0.38448	D	0.946894	P	0.38677	0.642	B	0.28011	0.085	T	0.74247	-0.3727	10	0.87932	D	0	.	13.9199	0.63926	1.0:0.0:0.0:0.0	.	1380	A7E2Y1	MYH7B_HUMAN	R	1422	ENSP00000262873:S1422R	ENSP00000262873:S1422R	S	+	1	0	MYH7B	33050327	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.108000	0.71522	1.953000	0.56701	0.459000	0.35465	AGC		0.632	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		C	33586666	A	C	33586666	3	2	372	1	0	0	0	0	1	0	0	0	10040	304	11	5	4394	5	MYH7B	20	33586666	Missense_Mutation	SNP	A	TCGA-31-1959-01A-01W-0699-08	28303883	33586666	29438854	49	20505											
TRPM2	7226	broad.mit.edu	37	21	45811185	45811185	+	Missense_Mutation	SNP	G	G	T			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chr21:45811185G>T	ENST00000397928.1	+	11	1916	c.1471G>T	c.(1471-1473)Gca>Tca	p.A491S	TRPM2_ENST00000397932.2_Missense_Mutation_p.A491S|TRPM2_ENST00000300482.5_Missense_Mutation_p.A491S|TRPM2_ENST00000300481.9_Missense_Mutation_p.A491S|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	491					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.A491S(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GATGACAGCTGCACTCATCTC	0.527																																																1	Substitution - Missense(1)	ovary(1)	21											128	91	103					21																	45811185		2203	4300	6503	44635613	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1471G>T	21.37:g.45811185G>T	ENSP00000381023:p.Ala491Ser		44635613	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760599	0.69763	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.91612	3.225	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70487	0.951;0.969;0.969	D	0.83703	0.0183	10	0.87932	D	0	-25.1522	16.963	0.86278	0.0:0.0:1.0:0.0	.	491;277;491	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	S	491	ENSP00000300482:A491S;ENSP00000381023:A491S;ENSP00000300481:A491S;ENSP00000381026:A491S	ENSP00000300481:A491S	A	+	1	0	TRPM2	44635613	1.000000	0.71417	0.931000	0.37212	0.319000	0.28217	6.905000	0.75714	2.456000	0.83038	0.655000	0.94253	GCA		0.527	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		T	45811185	G	T	45811185	3	4	372	1	0	0	0	0	1	0	0	0	16586	1319	46	3	1513	3	TRPM2	21	45811185	Missense_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08		45811185	2318710	50	20506											
USP51	158880	broad.mit.edu	37	X	55514319	55514319	+	Missense_Mutation	SNP	T	T	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chrX:55514319T>C	ENST00000500968.3	-	2	1136	c.1054A>G	c.(1054-1056)Aga>Gga	p.R352G	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	352					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R352G(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTTTTTCTTCTCTTTTTCTTG	0.398																																																1	Substitution - Missense(1)	ovary(1)	X											107	104	105					X																	55514319		2203	4300	6503	55531044	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1054A>G	X.37:g.55514319T>C	ENSP00000423333:p.Arg352Gly		55531044	Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.991020	0.35131	.	.	ENSG00000247746	ENST00000500968	T	0.10860	2.83	2.87	2.87	0.33458	.	0.110699	0.64402	U	0.000012	T	0.16896	0.0406	L	0.32530	0.975	0.58432	D	0.999992	D	0.71674	0.998	D	0.67900	0.954	T	0.01480	-1.1344	10	0.59425	D	0.04	.	6.7158	0.23302	0.0:0.0:0.0:1.0	.	352	Q70EK9	UBP51_HUMAN	G	352	ENSP00000423333:R352G	ENSP00000423333:R352G	R	-	1	2	USP51	55531044	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.543000	0.45752	1.387000	0.46486	0.413000	0.27773	AGA		0.398	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		C	55514319	T	C	55514319	3	2	372	1	0	0	0	0	1	0	0	0	17083	1559	54	4	1085	4	USP51	23	55514319	Missense_Mutation	SNP	T	TCGA-31-1959-01A-01W-0699-08		55514319	99756241	51	20507											
UTP14A	10813	broad.mit.edu	37	X	129063583	129063583	+	Nonstop_Mutation	SNP	G	G	C			TCGA-31-1959-01A-01W-0699-08	TCGA-31-1959-10A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	a2f4e75d-b9ce-4d18-bd89-e8e19099c770	f10444ec-4962-4bf5-ae15-5a6641b9ec64	g.chrX:129063583G>C	ENST00000394422.3	+	15	2343	c.2315G>C	c.(2314-2316)tGa>tCa	p.*772S	UTP14A_ENST00000425117.2_Nonstop_Mutation_p.*720S|UTP14A_ENST00000371051.5_Nonstop_Mutation_p.*718S|UTP14A_ENST00000371042.3_Nonstop_Mutation_p.*604S|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	0					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.*772S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TCTGTAGATTGAGTTGCTGGA	0.478																																																1	Nonstop extension(1)	ovary(1)	X											78	69	72					X																	129063583		2203	4300	6503	128891264	SO:0001578	stop_lost	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.2315G>C	X.37:g.129063583G>C	ENSP00000377944:p.*772Serext*21		128891264	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Nonstop_Mutation	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	N	10.84	1.463281	0.26248	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	.	.	.	4.18	3.31	0.37934	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6568	0.28379	0.1258:0.0:0.8742:0.0	.	.	.	.	S	720;772;718;604	.	.	X	+	2	2	UTP14A	128891264	0.116000	0.22171	0.167000	0.22817	0.185000	0.23345	0.813000	0.27225	0.885000	0.36088	0.585000	0.79938	TGA		0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		C	129063583	G	C	129063583	4	2	372	1	0	0	0	0	0	0	0	0	17095	1285	45	3	2373	3	UTP14A	23	129063583	Nonstop_Mutation	SNP	G	TCGA-31-1959-01A-01W-0699-08	73549264	129063583	26206977	52	20508											
HFE2	148738	hgsc.bcm.edu	37	1	145416401	145416401	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr1:145416401A>G	ENST00000336751.5	+	4	984	c.746A>G	c.(745-747)gAt>gGt	p.D249G	HFE2_ENST00000497365.1_Missense_Mutation_p.D23G|HFE2_ENST00000357836.5_Missense_Mutation_p.D136G|HFE2_ENST00000475797.1_Missense_Mutation_p.D23G	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	249					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.D249G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCTTTGAAGATGGTTCTATC	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											138	139	139					1																	145416401		2203	4300	6503	144127758	SO:0001583	missense	148738			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.746A>G	1.37:g.145416401A>G	ENSP00000337014:p.Asp249Gly		144127758	B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	CCDS910.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525552	0.85600	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.18	5.18	0.71444	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.79258	2.445	0.51482	D	0.99992	D	0.89917	1.0	D	0.91635	0.999	D	0.95584	0.8649	10	0.87932	D	0	-15.554	13.0252	0.58810	1.0:0.0:0.0:0.0	.	249	Q6ZVN8	RGMC_HUMAN	G	136;249;23;23	ENSP00000350495:D136G;ENSP00000337014:D249G;ENSP00000421820:D23G;ENSP00000425716:D23G	ENSP00000337014:D249G	D	+	2	0	HFE2	144127758	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.976000	0.93442	2.173000	0.68751	0.533000	0.62120	GAT		0.473	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		G	145416401	A	G	145416401	3	3	373	1	0	0	0	0	1	0	0	0	7082	333	12	4	756	4	HFE2	1	145416401	Missense_Mutation	SNP	A	TCGA-36-1568-01A-01W-0615-10		145416401	103834220	1	20509											
SEMA4A	64218	hgsc.bcm.edu	37	1	156131281	156131281	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr1:156131281C>T	ENST00000368285.3	+	9	1222	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	SEMA4A_ENST00000368284.1_Missense_Mutation_p.H187Y|SEMA4A_ENST00000368282.1_Missense_Mutation_p.H319Y|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.H187Y|SEMA4A_ENST00000355014.2_Missense_Mutation_p.H319Y	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	319	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.H319Y(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CACAGCTCCCCACATCTACGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	1											53	50	51					1																	156131281		2203	4300	6503	154397905	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.955C>T	1.37:g.156131281C>T	ENSP00000357268:p.His319Tyr		154397905	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	C	3.396	-0.123209	0.06795	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T;T;T	0.21734	2.89;1.99;2.89;2.89;2.89;2.89;2.89	5.42	0.728	0.18260	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.873795	0.09783	N	0.756391	T	0.02767	0.0083	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.45308	-0.9270	10	0.29301	T	0.29	.	2.4441	0.04501	0.2592:0.4628:0.1165:0.1614	.	187;319	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	Y	319;220;319;319;187;281;281;187;319	ENSP00000401391:H319Y;ENSP00000399230:H220Y;ENSP00000347117:H319Y;ENSP00000357268:H319Y;ENSP00000357267:H187Y;ENSP00000357269:H187Y;ENSP00000357265:H319Y	ENSP00000347117:H319Y	H	+	1	0	SEMA4A	154397905	0.000000	0.05858	0.002000	0.10522	0.160000	0.22226	0.334000	0.19787	0.236000	0.21180	0.455000	0.32223	CAC		0.672	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		T	156131281	C	T	156131281	3	4	373	1	0	0	0	0	1	0	0	0	14034	594	21	2	985	2	SEMA4A	1	156131281	Missense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10	10714880	156131281	93119340	2	20510											
FAM129A	116496	hgsc.bcm.edu	37	1	184792833	184792833	+	Missense_Mutation	SNP	T	T	G			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr1:184792833T>G	ENST00000367511.3	-	7	954	c.761A>C	c.(760-762)cAg>cCg	p.Q254P	FAM129A_ENST00000487074.1_Intron|RNU7-13P_ENST00000516413.1_RNA	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	254					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q254P(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CAGGTCTGTCTGAAGAGTGGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											132	117	122					1																	184792833		2203	4300	6503	183059456	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.761A>C	1.37:g.184792833T>G	ENSP00000356481:p.Gln254Pro		183059456	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595738	0.86953	.	.	ENSG00000135842	ENST00000367511	T	0.12147	2.71	5.76	5.76	0.90799	.	0.118599	0.64402	D	0.000017	T	0.34803	0.0910	M	0.64997	1.995	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.02294	-1.1181	10	0.46703	T	0.11	-25.5836	14.6553	0.68828	0.0:0.0:0.0:1.0	.	254	Q9BZQ8	NIBAN_HUMAN	P	254	ENSP00000356481:Q254P	ENSP00000356481:Q254P	Q	-	2	0	FAM129A	183059456	1.000000	0.71417	0.919000	0.36401	0.961000	0.63080	5.056000	0.64287	2.191000	0.70037	0.533000	0.62120	CAG		0.512	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			G	184792833	T	G	184792833	3	3	373	1	0	0	0	0	1	0	0	0	5436	1580	55	5	2057	5	FAM129A	1	184792833	Missense_Mutation	SNP	T	TCGA-36-1568-01A-01W-0615-10	28661552	184792833	64457788	3	20511											
APOB	338	hgsc.bcm.edu	37	2	21230896	21230896	+	Silent	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:21230896G>A	ENST00000233242.1	-	26	8971	c.8844C>T	c.(8842-8844)ttC>ttT	p.F2948F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2948					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.F2948F(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTATGGTGAAACTAATTT	0.443																																																1	Substitution - coding silent(1)	ovary(1)	2											154	155	154					2																	21230896		2203	4300	6503	21084401	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8844C>T	2.37:g.21230896G>A			21084401	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21230896	G	A	21230896	2	1	373	1	0	0	0	0	0	0	0	1	785	1281	45	2		2	APOB	2	21230896	Silent	SNP	G	TCGA-36-1568-01A-01W-0615-10		21230896	221968477	4	20512											
GPR113	165082	hgsc.bcm.edu	37	2	26533949	26533949	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:26533949G>A	ENST00000311519.1	-	11	2646	c.2647C>T	c.(2647-2649)Ctc>Ttc	p.L883F	GPR113_ENST00000541401.1_Missense_Mutation_p.L486F|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.L684F|GPR113_ENST00000421160.2_Missense_Mutation_p.L814F	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	883					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L684F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGGGGGAGAACTCGGTGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											25	27	26					2																	26533949		2203	4297	6500	26387453	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2647C>T	2.37:g.26533949G>A	ENSP00000307831:p.Leu883Phe		26387453	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624918	0.46840	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.99	5.99	0.97316	GPCR, family 2-like (1);	.	.	.	.	T	0.57242	0.2040	M	0.66506	2.035	0.80722	D	1	D;D;P;D	0.69078	0.997;0.995;0.956;0.997	D;D;D;D	0.75484	0.986;0.976;0.986;0.984	T	0.54642	-0.8263	9	0.48119	T	0.1	-26.7766	13.5423	0.61681	0.0:0.156:0.844:0.0	.	814;684;883;486	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	F	486;684;814;883	ENSP00000445729:L486F;ENSP00000327396:L684F;ENSP00000388537:L814F;ENSP00000307831:L883F	ENSP00000307831:L883F	L	-	1	0	GPR113	26387453	0.328000	0.24687	0.947000	0.38551	0.662000	0.39071	2.288000	0.43514	2.844000	0.97970	0.650000	0.86243	CTC		0.607	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		A	26533949	G	A	26533949	3	1	373	1	0	0	0	0	1	0	0	0	6630	942	33	2	693	2	GPR113	2	26533949	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10	5303053	26533949	216665424	5	20513											
APLF	200558	hgsc.bcm.edu	37	2	68805019	68805019	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:68805019C>A	ENST00000303795.4	+	10	1572	c.1401C>A	c.(1399-1401)agC>agA	p.S467R	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	467					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S467R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGAACGACAGCTTTCTAGATG	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											176	173	174					2																	68805019		2203	4300	6503	68658523	SO:0001583	missense	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1401C>A	2.37:g.68805019C>A	ENSP00000307004:p.Ser467Arg		68658523	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318465	0.60524	.	.	ENSG00000169621	ENST00000303795	T	0.29397	1.57	5.51	2.76	0.32466	.	0.177128	0.53938	N	0.000055	T	0.32704	0.0838	M	0.63428	1.95	0.45791	D	0.998679	P	0.41673	0.759	B	0.43052	0.406	T	0.03287	-1.1052	10	0.40728	T	0.16	.	9.9039	0.41364	0.0:0.7742:0.0:0.2258	.	467	Q8IW19	APLF_HUMAN	R	467	ENSP00000307004:S467R	ENSP00000307004:S467R	S	+	3	2	APLF	68658523	1.000000	0.71417	0.919000	0.36401	0.818000	0.46254	1.351000	0.34022	0.297000	0.22615	0.650000	0.86243	AGC		0.403	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		A	68805019	C	A	68805019	3	1	373	1	0	0	0	0	1	0	0	0	776	796	28	3	1439	3	APLF	2	68805019	Missense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10	42271070	68805019	174394354	6	20514											
CSRNP3	80034	hgsc.bcm.edu	37	2	166535715	166535715	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:166535715G>C	ENST00000342316.4	+	5	1482	c.1210G>C	c.(1210-1212)Gtc>Ctc	p.V404L	CSRNP3_ENST00000314499.7_Missense_Mutation_p.V404L|CSRNP3_ENST00000409420.1_Missense_Mutation_p.V436L	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	404					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.V404L(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGCCGAAGTTGTCCCTCTTCC	0.483																																																1	Substitution - Missense(1)	ovary(1)	2											128	122	124					2																	166535715		2203	4300	6503	166243961	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.1210G>C	2.37:g.166535715G>C	ENSP00000344042:p.Val404Leu		166243961	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062535	0.36373	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.79	5.79	0.91817	.	0.184751	0.47455	D	0.000238	T	0.36358	0.0964	L	0.34521	1.04	0.38146	D	0.9386	B	0.28291	0.206	B	0.24394	0.053	T	0.25152	-1.0140	10	0.30854	T	0.27	-17.052	13.2534	0.60064	0.0723:0.0:0.9277:0.0	.	404	Q8WYN3	CSRN3_HUMAN	L	404;411;404;404;436	ENSP00000412081:V404L;ENSP00000318258:V404L;ENSP00000344042:V404L;ENSP00000387195:V436L	ENSP00000318258:V404L	V	+	1	0	CSRNP3	166243961	1.000000	0.71417	0.915000	0.36163	0.993000	0.82548	6.248000	0.72418	2.735000	0.93741	0.655000	0.94253	GTC		0.483	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		C	166535715	G	C	166535715	3	2	373	1	0	0	0	0	1	0	0	0	3965	1377	48	3	1224	3	CSRNP3	2	166535715	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10	97730696	166535715	76663658	7	20515											
CCDC141	285025	hgsc.bcm.edu	37	2	179701828	179701828	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:179701828C>A	ENST00000420890.2	-	23	4235	c.4118G>T	c.(4117-4119)aGg>aTg	p.R1373M	CCDC141_ENST00000295723.5_Missense_Mutation_p.R798M|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1373								p.R798M(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGATTGAAACCTGAGGCCCGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											43	44	44					2																	179701828		2203	4300	6503	179410073	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4118G>T	2.37:g.179701828C>A	ENSP00000395995:p.Arg1373Met		179410073	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	C	5.907	0.351409	0.11182	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.46819	0.86;1.58;1.57	6.17	0.816	0.18768	.	1.699680	0.02669	N	0.108361	T	0.28400	0.0702	N	0.08118	0	0.09310	N	1	B;B	0.18968	0.017;0.032	B;B	0.13407	0.009;0.009	T	0.15896	-1.0421	10	0.31617	T	0.26	2.4456	5.9971	0.19499	0.1951:0.5071:0.0:0.2977	.	798;798	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	M	1373;817;798	ENSP00000395995:R1373M;ENSP00000344627:R817M;ENSP00000295723:R798M	ENSP00000295723:R798M	R	-	2	0	CCDC141	179410073	0.098000	0.21812	0.000000	0.03702	0.077000	0.17291	0.523000	0.22925	0.191000	0.20236	-0.136000	0.14681	AGG		0.488	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		A	179701828	C	A	179701828	3	1	373	1	0	0	0	0	1	0	0	0	2775	681	24	3	238	3	CCDC141	2	179701828	Missense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10	13166113	179701828	63497545	8	20516											
COL6A3	1293	hgsc.bcm.edu	37	2	238285666	238285666	+	Missense_Mutation	SNP	A	A	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr2:238285666A>C	ENST00000295550.4	-	7	3271	c.2819T>G	c.(2818-2820)gTg>gGg	p.V940G	COL6A3_ENST00000347401.3_Missense_Mutation_p.V739G|COL6A3_ENST00000409809.1_Missense_Mutation_p.V734G|COL6A3_ENST00000472056.1_Missense_Mutation_p.V333G|COL6A3_ENST00000346358.4_Missense_Mutation_p.V740G|COL6A3_ENST00000392004.3_Missense_Mutation_p.V734G|COL6A3_ENST00000392003.2_Missense_Mutation_p.V533G|COL6A3_ENST00000353578.4_Missense_Mutation_p.V734G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	940	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V940G(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAACTGAAGCACTCCATCCTC	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											120	96	104					2																	238285666		2203	4300	6503	237950405	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2819T>G	2.37:g.238285666A>C	ENSP00000295550:p.Val940Gly		237950405	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.076832	0.55753	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.55	5.55	0.83447	von Willebrand factor, type A (3);	0.151263	0.30920	N	0.008604	T	0.71178	0.3309	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D	0.85130	0.974;0.997;0.994;0.994;0.994;0.964	T	0.78173	-0.2307	10	0.72032	D	0.01	.	15.6886	0.77430	1.0:0.0:0.0:0.0	.	740;333;533;734;734;940	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	G	940;739;734;333;734;740;734;533	ENSP00000295550:V940G;ENSP00000315609:V739G;ENSP00000315873:V734G;ENSP00000418285:V333G;ENSP00000386844:V734G;ENSP00000295546:V740G;ENSP00000375861:V734G;ENSP00000375860:V533G	ENSP00000295550:V940G	V	-	2	0	COL6A3	237950405	1.000000	0.71417	0.562000	0.28370	0.246000	0.25737	6.223000	0.72257	2.110000	0.64415	0.533000	0.62120	GTG		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238285666	A	C	238285666	3	2	373	1	0	0	0	0	1	0	0	0	3701	159	6	5	6913	5	COL6A3	2	238285666	Missense_Mutation	SNP	A	TCGA-36-1568-01A-01W-0615-10	58583838	238285666	4913707	9	20517											
EIF4A2	1974	hgsc.bcm.edu	37	3	186501407	186501407	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr3:186501407G>T	ENST00000323963.5	+	1	72	c.8G>T	c.(7-9)gGt>gTt	p.G3V	RP11-573D15.9_ENST00000577781.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G3V|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	3					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.G3V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ATCATGTCTGGTGGCTCCGCG	0.577			T	BCL6	NHL																																		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	1	Substitution - Missense(1)	ovary(1)	3											142	144	143					3																	186501407		2203	4300	6503	187984101	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.8G>T	3.37:g.186501407G>T	ENSP00000326381:p.Gly3Val		187984101	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267105	0.59540	.	.	ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191	T;T;T	0.31769	1.48;1.68;1.68	4.48	3.6	0.41247	.	0.632453	0.16522	N	0.210774	T	0.21921	0.0528	L	0.29908	0.895	0.80722	D	1	B;B	0.27559	0.009;0.181	B;B	0.20577	0.023;0.03	T	0.05632	-1.0873	10	0.54805	T	0.06	-22.682	10.463	0.44592	0.0969:0.0:0.9031:0.0	.	3;3	Q14240-2;Q14240	.;IF4A2_HUMAN	V	3	ENSP00000415878:G3V;ENSP00000326381:G3V;ENSP00000398370:G3V	ENSP00000326381:G3V	G	+	2	0	EIF4A2	187984101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.820000	0.92003	1.224000	0.43551	0.563000	0.77884	GGT		0.577	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		T	186501407	G	T	186501407	3	4	373	1	0	0	0	0	1	0	0	0	5025	1261	44	3	10	3	EIF4A2	3	186501407	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10		186501407	11521023	10	20518											
RBPJ	3516	hgsc.bcm.edu	37	4	26432338	26432338	+	Silent	SNP	C	C	T	rs1064380		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr4:26432338C>T	ENST00000361572.6	+	11	1406	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	RBPJ_ENST00000345843.3_Silent_p.V389V|RBPJ_ENST00000355476.3_Silent_p.V390V|RBPJ_ENST00000348160.4_Silent_p.V391V|RBPJ_ENST00000504907.1_Missense_Mutation_p.R356C|RBPJ_ENST00000342295.1_Silent_p.V404V|RBPJ_ENST00000507561.1_Silent_p.V369V|RBPJ_ENST00000342320.4_Silent_p.V390V			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	404	IPT/TIG.				angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V390V(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGCTCTGTGTCGTCCCAGACA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	4						C	,,,	0,4406		0,0,2203	78	78	78		1212,1173,1167,1170	-3.1	1	4	dbSNP_86	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RBPJ	NM_005349.2,NM_015874.3,NM_203283.1,NM_203284.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	404/501,391/488,389/486,390/487	26432338	1,13005	2203	4300	6503	26041436	SO:0001819	synonymous_variant	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1212C>T	4.37:g.26432338C>T			26041436	B4DY22|Q5XKH9|Q6P1N3	Silent	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318441	0.40996	0.0	1.16E-4	ENSG00000168214	ENST00000504907	T	0.58940	0.3	5.51	-3.09	0.05331	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04930	-1.0917	8	0.38643	T	0.18	-9.6117	6.463	0.21966	0.0:0.3682:0.2408:0.3911	rs1064380	356	D6R927	.	C	356	ENSP00000423703:R356C	ENSP00000423703:R356C	R	+	1	0	RBPJ	26041436	0.068000	0.21057	0.989000	0.46669	0.999000	0.98932	-0.821000	0.04452	-0.505000	0.06568	0.655000	0.94253	CGT		0.418	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		T	26432338	C	T	26432338	2	4	373	1	0	0	0	0	0	0	0	1	13164	871	31	1		1	RBPJ	4	26432338	Silent	SNP	C	TCGA-36-1568-01A-01W-0615-10		26432338	164721938	11	20519											
CARD6	84674	hgsc.bcm.edu	37	5	40854092	40854092	+	Silent	SNP	A	A	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr5:40854092A>T	ENST00000254691.5	+	3	2857	c.2658A>T	c.(2656-2658)atA>atT	p.I886I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	886					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.I886I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAAAACTGATAAGAACATCCC	0.488																																																1	Substitution - coding silent(1)	ovary(1)	5											101	101	101					5																	40854092		2203	4300	6503	40889849	SO:0001819	synonymous_variant	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2658A>T	5.37:g.40854092A>T			40889849	Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1																																																																																				0.488	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			T	40854092	A	T	40854092	2	4	373	1	0	0	0	0	0	0	0	1	2650	352	13	5		5	CARD6	5	40854092	Silent	SNP	A	TCGA-36-1568-01A-01W-0615-10		40854092	140061168	12	20520											
PCSK1	5122	hgsc.bcm.edu	37	5	95761604	95761604	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr5:95761604C>G	ENST00000311106.3	-	3	553	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q	PCSK1_ENST00000508626.1_Missense_Mutation_p.E59Q|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	106					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.E106Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTACTTCTTTCTTTTTCATAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	5											174	156	162					5																	95761604		2203	4300	6503	95787360	SO:0001583	missense	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.316G>C	5.37:g.95761604C>G	ENSP00000308024:p.Glu106Gln		95787360	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	1.190	-0.635451	0.03584	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.66815	-0.07;-0.23;2.31	5.63	3.74	0.42951	.	0.301186	0.40818	N	0.001017	T	0.40839	0.1133	N	0.05487	-0.04	0.27306	N	0.957449	B	0.16166	0.016	B	0.09377	0.004	T	0.18681	-1.0329	10	0.33141	T	0.24	-21.7589	6.4665	0.21985	0.0:0.6577:0.1483:0.194	.	106	P29120	NEC1_HUMAN	Q	106;59;106	ENSP00000308024:E106Q;ENSP00000421600:E59Q;ENSP00000427294:E106Q	ENSP00000308024:E106Q	E	-	1	0	PCSK1	95787360	0.998000	0.40836	0.999000	0.59377	0.174000	0.22865	0.580000	0.23803	1.519000	0.48950	-0.136000	0.14681	GAA		0.373	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		G	95761604	C	G	95761604	3	3	373	1	0	0	0	0	1	0	0	0	11600	922	32	3	1993	3	PCSK1	5	95761604	Missense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10	54907512	95761604	85153656	13	20521											
FAM71B	153745	hgsc.bcm.edu	37	5	156589770	156589770	+	Silent	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr5:156589770G>A	ENST00000302938.4	-	2	1601	c.1506C>T	c.(1504-1506)caC>caT	p.H502H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	502						nucleus (GO:0005634)		p.H502H(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTGGAGCTGTGGGTGGAGC	0.488																																																1	Substitution - coding silent(1)	ovary(1)	5											165	165	165					5																	156589770		2203	4300	6503	156522348	SO:0001819	synonymous_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1506C>T	5.37:g.156589770G>A			156522348	Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	CCDS4335.1																																																																																				0.488	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		A	156589770	G	A	156589770	2	1	373	1	0	0	0	0	0	0	0	1	5608	1368	48	2		2	FAM71B	5	156589770	Silent	SNP	G	TCGA-36-1568-01A-01W-0615-10	60828166	156589770	24325490	14	20522											
EXOC2	55770	hgsc.bcm.edu	37	6	637784	637802	+	Frame_Shift_Del	DEL	CCGGTCACAAGGGGGGGTT	CCGGTCACAAGGGGGGGTT	-	rs201586583|rs148665259	byFrequency	TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	CCGGTCACAAGGGGGGGTT	CCGGTCACAAGGGGGGGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr6:637784_637802delCCGGTCACAAGGGGGGGTT	ENST00000230449.4	-	2	152_170	c.17_35delAACCCCCCCTTGTGACCGG	c.(16-36)caacccccccttgtgaccggcfs	p.QPPLVTG6fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	6					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G12D(1)|p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TGGAGAGATGCCGGTCACAAGGGGGGGTTGTCGTGATCG	0.489																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|ovary(1)	6																																								582802	SO:0001589	frameshift_variant	55770			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.17_35delAACCCCCCCTTGTGACCGG	6.37:g.637784_637802delCCGGTCACAAGGGGGGGTT	ENSP00000230449:p.Gln6fs		582784	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Del	DEL	ENST00000230449.4	37	CCDS34327.1																																																																																				0.489	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		-	637802	CCGGTCACAAGGGGGGGTT	-	637784	7	5	373	1	0	1	0	1	0	0	0	0	5302	739	26	0	2847	0	EXOC2	6	637784	Frame_Shift_Del	DEL	CCGGTCACAAGGGGGGGTT	TCGA-36-1568-01A-01W-0615-10		637784	170477283	15	20523											
BAI3	577	hgsc.bcm.edu	37	6	69666030	69666030	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr6:69666030G>A	ENST00000370598.1	+	7	2131	c.1310G>A	c.(1309-1311)tGc>tAc	p.C437Y		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	437	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C437Y(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGCTCCGAATGCAGAGGGCCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	6											69	62	65					6																	69666030		2203	4300	6503	69722751	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1310G>A	6.37:g.69666030G>A	ENSP00000359630:p.Cys437Tyr		69722751	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766970	0.90020	.	.	ENSG00000135298	ENST00000370598	T	0.69306	-0.39	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89708	0.6793	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93439	0.6792	10	0.72032	D	0.01	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	437	O60242	BAI3_HUMAN	Y	437	ENSP00000359630:C437Y	ENSP00000359630:C437Y	C	+	2	0	BAI3	69722751	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.623000	0.98386	2.701000	0.92244	0.591000	0.81541	TGC		0.552	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	69666030	G	A	69666030	3	1	373	1	0	0	0	0	1	0	0	0	1300	1319	46	2	1328	2	BAI3	6	69666030	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10	69028246	69666030	101449037	16	20524											
MOXD1	26002	hgsc.bcm.edu	37	6	132618425	132618425	+	Missense_Mutation	SNP	A	A	G	rs549651953	byFrequency	TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr6:132618425A>G	ENST00000367963.3	-	12	1827	c.1709T>C	c.(1708-1710)aTa>aCa	p.I570T	MOXD1_ENST00000336749.3_Missense_Mutation_p.I502T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.I570T(1)|p.I502T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GGGTCTTTCTATATCTGGAGG	0.443													A|||	3	0.000599042	0	0	5008	,	,		21348	0		0	False		,,,				2504	0.0031															2	Substitution - Missense(2)	ovary(2)	6											167	151	157					6																	132618425		2203	4300	6503	132660118	SO:0001583	missense	26002			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1709T>C	6.37:g.132618425A>G	ENSP00000356940:p.Ile570Thr		132660118	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	A	10.97	1.503002	0.26949	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.52754	0.65;0.65	5.79	2.15	0.27550	.	0.613511	0.16594	N	0.207623	T	0.21881	0.0527	L	0.51422	1.61	0.09310	N	1	B;B	0.22211	0.057;0.066	B;B	0.24394	0.01;0.053	T	0.27673	-1.0067	10	0.66056	D	0.02	-0.6605	9.0881	0.36594	0.8202:0.0:0.1798:0.0	.	570;502	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	T	570;502	ENSP00000356940:I570T;ENSP00000336998:I502T	ENSP00000336998:I502T	I	-	2	0	MOXD1	132660118	0.002000	0.14202	0.000000	0.03702	0.030000	0.12068	1.334000	0.33827	0.136000	0.18733	-0.256000	0.11100	ATA		0.443	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		G	132618425	A	G	132618425	3	3	373	1	0	0	0	0	1	0	0	0	9720	449	16	4	136	4	MOXD1	6	132618425	Missense_Mutation	SNP	A	TCGA-36-1568-01A-01W-0615-10	62952395	132618425	38496642	17	20525											
SNX8	29886	hgsc.bcm.edu	37	7	2311586	2311586	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr7:2311586C>A	ENST00000222990.3	-	4	481	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	147	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.		A -> G (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.A147S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTCCTCCTGGCCTCGATGAAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	7											78	64	69					7																	2311586		2203	4300	6503	2278112	SO:0001583	missense	29886			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.439G>T	7.37:g.2311586C>A	ENSP00000222990:p.Ala147Ser		2278112	A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	7.933	0.741194	0.15642	.	.	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286;ENST00000435336	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.01	2.89	0.33648	Phox homologous domain (5);	0.396986	0.28730	N	0.014332	T	0.13756	0.0333	N	0.05383	-0.06	0.25553	N	0.987065	B	0.15719	0.014	B	0.20184	0.028	T	0.22417	-1.0217	10	0.09590	T	0.72	.	3.26	0.06845	0.488:0.3449:0.0:0.1672	.	147	Q9Y5X2	SNX8_HUMAN	S	147;133;94;94	ENSP00000222990:A147S;ENSP00000392437:A133S;ENSP00000406954:A94S;ENSP00000406212:A94S	ENSP00000222990:A147S	A	-	1	0	SNX8	2278112	0.995000	0.38212	0.997000	0.53966	0.982000	0.71751	2.348000	0.44045	1.078000	0.41014	0.655000	0.94253	GCC		0.627	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			A	2311586	C	A	2311586	3	1	373	1	0	0	0	0	1	0	0	0	14911	739	26	3	990	3	SNX8	7	2311586	Missense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10		2311586	156827077	18	20526											
DMTF1	9988	hgsc.bcm.edu	37	7	86800370	86800370	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr7:86800370G>A	ENST00000394703.5	+	7	855	c.292G>A	c.(292-294)Gat>Aat	p.D98N	DMTF1_ENST00000432937.2_Missense_Mutation_p.D10N|DMTF1_ENST00000413276.2_Missense_Mutation_p.D98N|DMTF1_ENST00000331242.7_Missense_Mutation_p.D98N|DMTF1_ENST00000394702.3_Missense_Mutation_p.D98N|DMTF1_ENST00000414194.2_De_novo_Start_InFrame|DMTF1_ENST00000411766.2_Missense_Mutation_p.D57N	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	98	Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D98N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGTAGCAGATGATGAGGTTAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	7											119	105	110					7																	86800370		2203	4300	6503	86638306	SO:0001583	missense	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.292G>A	7.37:g.86800370G>A	ENSP00000378193:p.Asp98Asn		86638306	B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503297	0.96371	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000425406;ENST00000411766;ENST00000420131;ENST00000449088;ENST00000430405;ENST00000432937;ENST00000394703;ENST00000412139;ENST00000425705	T;T;T;T	0.54071	0.59;0.72;0.62;0.59	5.39	5.39	0.77823	.	0.140814	0.64402	D	0.000006	T	0.48484	0.1502	L	0.40543	1.245	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.41305	-0.9516	10	0.56958	D	0.05	-8.4057	18.5024	0.90887	0.0:0.0:1.0:0.0	.	98	Q9Y222	DMTF1_HUMAN	N	98;98;98;98;57;57;10;98;98;10;98;98;98	ENSP00000332171:D98N;ENSP00000402627:D98N;ENSP00000412532:D10N;ENSP00000378193:D98N	ENSP00000332171:D98N	D	+	1	0	DMTF1	86638306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.352000	0.59404	2.690000	0.91761	0.655000	0.94253	GAT		0.403	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		A	86800370	G	A	86800370	3	1	373	1	0	0	0	0	1	0	0	0	4592	1290	45	2	302	2	DMTF1	7	86800370	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10	84488784	86800370	72338293	19	20527											
CUX1	1523	hgsc.bcm.edu	37	7	101843372	101843372	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr7:101843372G>T	ENST00000292535.7	+	17	2020	c.1982G>T	c.(1981-1983)cGa>cTa	p.R661L	CUX1_ENST00000550008.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R559L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R672L|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.R639L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	661					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R661L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACCCGGATCCGAGCCTCGGAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											97	98	98					7																	101843372		2203	4300	6503	101630092	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1982G>T	7.37:g.101843372G>T	ENSP00000292535:p.Arg661Leu		101630092	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948668	0.92660	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000546411	T;T;T;T	0.70986	-0.5;-0.48;-0.33;-0.53	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72075	0.947;0.976	D	0.84793	0.0780	10	0.52906	T	0.07	-8.1039	19.9961	0.97386	0.0:0.0:1.0:0.0	.	661;672	P39880;P39880-3	CUX1_HUMAN;.	L	672;661;639;559	ENSP00000353401:R672L;ENSP00000292535:R661L;ENSP00000446630:R639L;ENSP00000450125:R559L	ENSP00000292535:R661L	R	+	2	0	CUX1	101630092	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.058000	0.89460	2.744000	0.94065	0.561000	0.74099	CGA		0.527	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		T	101843372	G	T	101843372	3	4	373	1	0	0	0	0	1	0	0	0	4064	1058	37	3	2115	3	CUX1	7	101843372	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10	15043002	101843372	57295291	20	20528											
MAK16	84549	hgsc.bcm.edu	37	8	33353079	33353079	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:33353079C>T	ENST00000360128.6	+	7	924	c.467C>T	c.(466-468)gCt>gTt	p.A156V	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	156						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A156V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						TTAATAGCTGCTCAGCTGGAC	0.383																																																1	Substitution - Missense(1)	ovary(1)	8											103	100	101					8																	33353079		2203	4300	6503	33472621	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"RNA binding motif (RRM) containing"	13703	protein-coding gene	gene with protein product			"RNA binding motif protein 13"	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.467C>T	8.37:g.33353079C>T	ENSP00000353246:p.Ala156Val		33472621	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	ENST00000360128.6	37	CCDS6089.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365945	0.95900	.	.	ENSG00000198042	ENST00000360128	T	0.59224	0.28	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87847	0.2655	10	0.87932	D	0	-13.2293	19.0874	0.93209	0.0:1.0:0.0:0.0	.	156	Q9BXY0	MAK16_HUMAN	V	156	ENSP00000353246:A156V	ENSP00000353246:A156V	A	+	2	0	MAK16	33472621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.267000	0.78462	2.623000	0.88846	0.563000	0.77884	GCT		0.383	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		T	33353079	C	T	33353079	3	4	373	1	0	0	0	0	1	0	0	0	9198	797	28	2	493	2	MAK16	8	33353079	Missense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10		33353079	113010943	21	20529											
ST18	9705	hgsc.bcm.edu	37	8	53025885	53025885	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:53025885T>A	ENST00000276480.7	-	26	3700	c.3017A>T	c.(3016-3018)gAg>gTg	p.E1006V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1006					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1006V(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAAATTCTGCTCACTGATAGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	8											125	109	115					8																	53025885		2203	4300	6503	53188438	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3017A>T	8.37:g.53025885T>A	ENSP00000276480:p.Glu1006Val		53188438	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968110	0.92855	.	.	ENSG00000147488	ENST00000276480	T	0.54675	0.56	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74500	-0.3645	10	0.87932	D	0	-25.6995	16.4416	0.83903	0.0:0.0:0.0:1.0	.	1006	O60284	ST18_HUMAN	V	1006	ENSP00000276480:E1006V	ENSP00000276480:E1006V	E	-	2	0	ST18	53188438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.285000	0.76669	0.477000	0.44152	GAG		0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			A	53025885	T	A	53025885	3	1	373	1	0	0	0	0	1	0	0	0	15214	1551	54	5	130	5	ST18	8	53025885	Missense_Mutation	SNP	T	TCGA-36-1568-01A-01W-0615-10	19672806	53025885	93338137	22	20530											
ARFGEF1	10565	hgsc.bcm.edu	37	8	68123823	68123823	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:68123823T>C	ENST00000262215.3	-	34	5103	c.4714A>G	c.(4714-4716)Att>Gtt	p.I1572V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.I1026V|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.I410V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1572					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.I1572V(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAATCATGAATATCTACAGAC	0.323																																																1	Substitution - Missense(1)	ovary(1)	8											43	44	43					8																	68123823		2203	4300	6503	68286377	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4714A>G	8.37:g.68123823T>C	ENSP00000262215:p.Ile1572Val		68286377	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027707	0.35797	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.42131	0.98;0.98;0.98	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	N	0.22421	0.69	0.36418	D	0.864168	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22800	-1.0206	10	0.12430	T	0.62	.	15.2018	0.73142	0.0:0.0:0.0:1.0	.	1572;1050;1026	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	V	1026;1572;410	ENSP00000428429:I1026V;ENSP00000262215:I1572V;ENSP00000430891:I410V	ENSP00000262215:I1572V	I	-	1	0	ARFGEF1	68286377	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.683000	0.74533	2.126000	0.65437	0.533000	0.62120	ATT		0.323	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		C	68123823	T	C	68123823	3	2	373	1	0	0	0	0	1	0	0	0	852	1406	49	4	859	4	ARFGEF1	8	68123823	Missense_Mutation	SNP	T	TCGA-36-1568-01A-01W-0615-10	15097938	68123823	78240199	23	20531											
CRISPLD1	83690	hgsc.bcm.edu	37	8	75924704	75924704	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:75924704T>A	ENST00000262207.4	+	3	763	c.295T>A	c.(295-297)Tgg>Agg	p.W99R	CRISPLD1_ENST00000519798.1_3'UTR|CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	99	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.W99R(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGCAGAATCCTGGGCTGAAAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	8											161	147	152					8																	75924704		2203	4300	6503	76087259	SO:0001583	missense	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.295T>A	8.37:g.75924704T>A	ENSP00000262207:p.Trp99Arg		76087259	B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206239	0.79127	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	T;T	0.07800	3.16;3.16	5.21	5.21	0.72293	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	M	0.89658	3.05	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.43278	-0.9401	10	0.87932	D	0	.	15.2557	0.73582	0.0:0.0:0.0:1.0	.	99	Q9H336	CRLD1_HUMAN	R	99	ENSP00000262207:W99R;ENSP00000430504:W99R	ENSP00000262207:W99R	W	+	1	0	CRISPLD1	76087259	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.470000	0.80973	2.184000	0.69523	0.455000	0.32223	TGG		0.443	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		A	75924704	T	A	75924704	3	1	373	1	0	0	0	0	1	0	0	0	3882	1580	55	5	301	5	CRISPLD1	8	75924704	Missense_Mutation	SNP	T	TCGA-36-1568-01A-01W-0615-10	7800881	75924704	70439318	24	20532											
COL22A1	169044	hgsc.bcm.edu	37	8	139703108	139703108	+	Missense_Mutation	SNP	C	C	T	rs549307992	byFrequency	TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr8:139703108C>T	ENST00000303045.6	-	36	3210	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G922R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	922	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G922R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCGACATGTCCGGGAGCACCC	0.532										HNSCC(7;0.00092)			C|||	2	0.000399361	0	0	5008	,	,		20760	0		0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	8											54	48	50					8																	139703108		2202	4300	6502	139772290	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2764G>A	8.37:g.139703108C>T	ENSP00000303153:p.Gly922Arg		139772290	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287096	0.59867	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99429	-5.89;-5.89	5.46	5.46	0.80206	.	0.000000	0.48767	U	0.000177	D	0.99648	0.9870	H	0.94620	3.56	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97767	1.0224	10	0.87932	D	0	.	15.1644	0.72811	0.0:1.0:0.0:0.0	.	922;922	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	922;922;635	ENSP00000303153:G922R;ENSP00000387655:G922R	ENSP00000303153:G922R	G	-	1	0	COL22A1	139772290	0.998000	0.40836	0.996000	0.52242	0.746000	0.42486	3.494000	0.53273	2.739000	0.93911	0.643000	0.83706	GGA		0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139703108	C	T	139703108	3	4	373	1	0	0	0	0	1	0	0	0	3681	661	23	1	2236	1	COL22A1	8	139703108	Missense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10	63778404	139703108	6660914	25	20533											
JAK2	3717	hgsc.bcm.edu	37	9	5072586	5072586	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr9:5072586T>C	ENST00000381652.3	+	13	2230	c.1736T>C	c.(1735-1737)cTt>cCt	p.L579P	JAK2_ENST00000544510.1_Missense_Mutation_p.L430P|JAK2_ENST00000539801.1_Missense_Mutation_p.L579P	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	579	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.L579P(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACAGAAGTTCTTTTAAAAGTT	0.358		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	1	Substitution - Missense(1)	ovary(1)	9											66	68	67					9																	5072586		2203	4300	6503	5062586	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1736T>C	9.37:g.5072586T>C	ENSP00000371067:p.Leu579Pro		5062586	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391391	0.83011	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.35048	1.33;1.33;1.33	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.171754	0.52532	D	0.000067	T	0.57519	0.2059	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.60707	-0.7210	10	0.87932	D	0	-18.328	16.0085	0.80380	0.0:0.0:0.0:1.0	.	579	O60674	JAK2_HUMAN	P	579;579;430	ENSP00000440387:L579P;ENSP00000371067:L579P;ENSP00000443103:L430P	ENSP00000371067:L579P	L	+	2	0	JAK2	5062586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.685000	0.84117	2.185000	0.69588	0.477000	0.44152	CTT		0.358	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			C	5072586	T	C	5072586	3	2	373	1	0	0	0	0	1	0	0	0	7938	1609	56	4	1778	4	JAK2	9	5072586	Missense_Mutation	SNP	T	TCGA-36-1568-01A-01W-0615-10		5072586	136140845	26	20534											
APTX	54840	hgsc.bcm.edu	37	9	32988112	32988118	+	Frame_Shift_Del	DEL	TCTGCTT	TCTGCTT	-	rs369431727		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	TCTGCTT	TCTGCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr9:32988112_32988118delTCTGCTT	ENST00000379819.1	-	3	184_190	c.185_191delAAGCAGA	c.(184-192)aaagcagagfs	p.KAE62fs	APTX_ENST00000379825.2_Frame_Shift_Del_p.KAE62fs|APTX_ENST00000379813.3_Frame_Shift_Del_p.KAE48fs|APTX_ENST00000468275.1_Frame_Shift_Del_p.KAE48fs|APTX_ENST00000476858.1_Intron|APTX_ENST00000436040.2_Frame_Shift_Del_p.KAE48fs|APTX_ENST00000309615.3_Frame_Shift_Del_p.KAE62fs|APTX_ENST00000463596.1_Frame_Shift_Del_p.KAE48fs|APTX_ENST00000397172.3_Frame_Shift_Del_p.KAE62fs|APTX_ENST00000379817.2_Frame_Shift_Del_p.KAE48fs			Q7Z2E3	APTX_HUMAN	aprataxin	62	FHA-like.|Interactions with ADPRT and NCL.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)	p.K62fs*9(1)		endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CTTGTTACACTCTGCTTTCAACTGTAC	0.367								Editing and processing nucleases																																								1	Deletion - Frameshift(1)	ovary(1)	9																																								32978118	SO:0001589	frameshift_variant	54840			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"ataxia 1, early onset with hypoalbuminemia"	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.185_191delAAGCAGA	9.37:g.32988112_32988118delTCTGCTT	ENSP00000369147:p.Lys62fs		32978112	A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Frame_Shift_Del	DEL	ENST00000379819.1	37																																																																																					0.367	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		-	32988118	TCTGCTT	-	32988112	7	5	373	1	0	1	0	1	0	0	0	0	820	1551	54	0	912	0	APTX	9	32988112	Frame_Shift_Del	DEL	TCTGCTT	TCGA-36-1568-01A-01W-0615-10	27915526	32988112	108225319	27	20535											
ANO3	63982	hgsc.bcm.edu	37	11	26660769	26660769	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr11:26660769T>A	ENST00000256737.3	+	21	2974	c.2122T>A	c.(2122-2124)Ttc>Atc	p.F708I	ANO3_ENST00000537978.1_Missense_Mutation_p.F692I|ANO3_ENST00000531568.1_Missense_Mutation_p.F562I|ANO3_ENST00000525139.1_Missense_Mutation_p.F692I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	708					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.F708I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGGAACAACTTCATGGAACT	0.408																																																1	Substitution - Missense(1)	ovary(1)	11											162	139	147					11																	26660769		2203	4299	6502	26617345	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2122T>A	11.37:g.26660769T>A	ENSP00000256737:p.Phe708Ile		26617345	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646309	0.29246	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	N	0.11427	0.14	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.60236	0.777;0.871	T	0.48198	-0.9056	10	0.02654	T	1	.	15.4039	0.74863	0.0:0.0:0.0:1.0	.	610;708	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	I	692;692;708;610;562	ENSP00000440737:F692I;ENSP00000432576:F692I;ENSP00000256737:F708I;ENSP00000432394:F562I	ENSP00000256737:F708I	F	+	1	0	ANO3	26617345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.201000	0.72124	2.038000	0.60285	0.383000	0.25322	TTC		0.408	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		A	26660769	T	A	26660769	3	1	373	1	0	0	0	0	1	0	0	0	698	1609	56	5	2204	5	ANO3	11	26660769	Missense_Mutation	SNP	T	TCGA-36-1568-01A-01W-0615-10		26660769	108345747	28	20536											
GAB2	9846	hgsc.bcm.edu	37	11	77937889	77937889	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr11:77937889G>A	ENST00000361507.4	-	4	914	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	GAB2_ENST00000340149.2_Missense_Mutation_p.H239Y|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	277					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H277Y(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCCTTGGTGTGGCCATGGGAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	11											81	70	74					11																	77937889		2200	4292	6492	77615537	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.829C>T	11.37:g.77937889G>A	ENSP00000354952:p.His277Tyr		77615537	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	4.032	0.003541	0.07866	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.16597	2.33;2.33	5.69	5.69	0.88448	.	0.422095	0.21568	U	0.072447	T	0.16385	0.0394	L	0.50333	1.59	0.19300	N	0.99998	B	0.32620	0.378	B	0.28011	0.085	T	0.43540	-0.9385	10	0.02654	T	1	-7.3622	19.8182	0.96579	0.0:0.0:1.0:0.0	.	277	Q9UQC2	GAB2_HUMAN	Y	239;277	ENSP00000343959:H239Y;ENSP00000354952:H277Y	ENSP00000343959:H239Y	H	-	1	0	GAB2	77615537	1.000000	0.71417	0.988000	0.46212	0.305000	0.27757	6.600000	0.74132	2.700000	0.92200	0.561000	0.74099	CAC		0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		A	77937889	G	A	77937889	3	1	373	1	0	0	0	0	1	0	0	0	6149	1348	47	2	1229	2	GAB2	11	77937889	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10	51277120	77937889	57068627	29	20537											
NCKAP1L	3071	hgsc.bcm.edu	37	12	54893248	54893248	+	Splice_Site	SNP	C	C	T	rs537538241		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr12:54893248C>T	ENST00000293373.6	+	2	291	c.212C>T	c.(211-213)aCg>aTg	p.T71M	NCKAP1L_ENST00000545638.2_Splice_Site_p.T21M|RP11-753H16.3_ENST00000550474.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	71					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.T71M(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CGAAACAGCACGGTGAGAACT	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											105	98	101					12																	54893248		2203	4300	6503	53179515	SO:0001630	splice_region_variant	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.213+1C>T	12.37:g.54893248C>T			53179515	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389042	0.61956	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32753	1.45;1.44	5.33	5.33	0.75918	.	0.118857	0.56097	D	0.000026	T	0.37100	0.0991	L	0.33485	1.01	0.31306	N	0.687712	D	0.64830	0.994	P	0.53954	0.738	T	0.27262	-1.0079	10	0.37606	T	0.19	-5.3553	16.5294	0.84354	0.0:1.0:0.0:0.0	.	71	P55160	NCKPL_HUMAN	M	71;21	ENSP00000293373:T71M;ENSP00000445596:T21M	ENSP00000293373:T71M	T	+	2	0	NCKAP1L	53179515	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.199000	0.42715	2.500000	0.84329	0.467000	0.42956	ACG		0.428	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	Missense_Mutation	T	54893248	C	T	54893248	5	4	373	1	0	0	0	0	0	0	1	0	10222	550	19	1	218	1	NCKAP1L	12	54893248	Splice_Site	SNP	C	TCGA-36-1568-01A-01W-0615-10		54893248	78958647	30	20538											
UNG	7374	hgsc.bcm.edu	37	12	109536217	109536217	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr12:109536217T>C	ENST00000336865.2	+	1	295	c.86T>C	c.(85-87)cTc>cCc	p.L29P	UNG_ENST00000242576.2_Intron	NM_003362.3	NP_003353.1			uracil-DNA glycosylase									p.L29P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTGAGCCGCCTCTGCGGGGAC	0.701								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																							1	Substitution - Missense(1)	ovary(1)	12											19	23	21					12																	109536217		2183	4245	6428	108020600	SO:0001583	missense	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000336865.2:c.86T>C	12.37:g.109536217T>C	ENSP00000337398:p.Leu29Pro		108020600		Missense_Mutation	SNP	ENST00000336865.2	37	CCDS9125.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809454	0.50421	.	.	ENSG00000076248	ENST00000336865	T	0.78816	-1.21	5.1	-3.58	0.04597	.	.	.	.	.	T	0.49525	0.1562	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24048	-1.0171	9	0.29301	T	0.29	.	1.8507	0.03169	0.1368:0.3258:0.1247:0.4128	.	29	E5KTA6	.	P	29	ENSP00000337398:L29P	ENSP00000337398:L29P	L	+	2	0	UNG	108020600	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-0.917000	0.04025	-0.851000	0.04147	-0.379000	0.06801	CTC		0.701	UNG-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000403069.1	NM_080911		C	109536217	T	C	109536217	3	2	373	1	0	0	0	0	1	0	0	0	16999	1551	54	4	224	4	UNG	12	109536217	Missense_Mutation	SNP	T	TCGA-36-1568-01A-01W-0615-10	54642969	109536217	24315678	31	20539											
LATS2	26524	hgsc.bcm.edu	37	13	21619951	21619951	+	Missense_Mutation	SNP	G	G	A	rs560006986		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr13:21619951G>A	ENST00000382592.4	-	2	620	c.215C>T	c.(214-216)cCt>cTt	p.P72L	LATS2_ENST00000542899.1_Missense_Mutation_p.P72L	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.P72L(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTTCTGATAAGGTCCGAACTT	0.527																																																1	Substitution - Missense(1)	ovary(1)	13											116	102	107					13																	21619951		2203	4300	6503	20517951	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.215C>T	13.37:g.21619951G>A	ENSP00000372035:p.Pro72Leu		20517951		Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308477	0.81247	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.24723	1.84;1.84	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000002	T	0.44644	0.1303	M	0.62723	1.935	0.52099	D	0.999949	D	0.71674	0.998	P	0.56343	0.796	T	0.12578	-1.0542	10	0.37606	T	0.19	.	19.7236	0.96153	0.0:0.0:1.0:0.0	.	72	Q9NRM7	LATS2_HUMAN	L	72	ENSP00000372035:P72L;ENSP00000441817:P72L	ENSP00000372035:P72L	P	-	2	0	LATS2	20517951	1.000000	0.71417	0.882000	0.34594	0.850000	0.48378	6.901000	0.75693	2.730000	0.93505	0.655000	0.94253	CCT		0.527	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			A	21619951	G	A	21619951	3	1	373	1	0	0	0	0	1	0	0	0	8647	1000	35	2	3079	2	LATS2	13	21619951	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10		21619951	93549927	32	20540											
ZC3H13	23091	hgsc.bcm.edu	37	13	46619619	46619619	+	Silent	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr13:46619619G>A	ENST00000242848.4	-	2	372	c.24C>T	c.(22-24)gtC>gtT	p.V8V	ZC3H13_ENST00000282007.3_Silent_p.V8V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	8							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V8V(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		TTTCCACTGTGACCTTCCTTC	0.408																																					Esophageal Squamous(187;747 2077 11056 31291 44172)											1	Substitution - coding silent(1)	ovary(1)	13											198	202	201					13																	46619619		2203	4300	6503	45517620	SO:0001819	synonymous_variant	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.24C>T	13.37:g.46619619G>A			45517620	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37																																																																																					0.408	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		A	46619619	G	A	46619619	2	1	373	1	0	0	0	0	0	0	0	1	17565	1277	45	2		2	ZC3H13	13	46619619	Silent	SNP	G	TCGA-36-1568-01A-01W-0615-10	24999668	46619619	68550259	33	20541											
CYFIP1	23191	hgsc.bcm.edu	37	15	22928450	22928450	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr15:22928450G>C	ENST00000313077.7	+	5	452	c.327G>C	c.(325-327)gaG>gaC	p.E109D	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E109D	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.E109D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AAATCTACGAGAAAACCGTGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	15											134	148	143					15																	22928450		2203	4300	6503	20479891	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.327G>C	15.37:g.22928450G>C	ENSP00000324549:p.Glu109Asp		20479891		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300876	0.60195	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.44881	0.91	4.81	2.93	0.34026	.	0.161181	0.42548	D	0.000699	T	0.55433	0.1920	M	0.68952	2.095	0.80722	D	1	D;B	0.58268	0.982;0.166	D;B	0.67548	0.952;0.405	T	0.51934	-0.8642	10	0.45353	T	0.12	-24.6022	7.7071	0.28657	0.3224:0.0:0.6776:0.0	.	137;109	E7EQ04;Q7L576	.;CYFP1_HUMAN	D	109;137	ENSP00000324549:E109D	ENSP00000324549:E109D	E	+	3	2	CYFIP1	20479891	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.190000	0.42630	0.647000	0.30713	0.555000	0.69702	GAG		0.473	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		C	22928450	G	C	22928450	3	2	373	1	0	0	0	0	1	0	0	0	4137	933	33	3	341	3	CYFIP1	15	22928450	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10		22928450	79602942	34	20542											
MYH11	4629	hgsc.bcm.edu	37	16	15869985	15869985	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr16:15869985G>C	ENST00000300036.5	-	8	948	c.839C>G	c.(838-840)aCa>aGa	p.T280R	MYH11_ENST00000576790.2_Missense_Mutation_p.T280R|MYH11_ENST00000452625.2_Missense_Mutation_p.T287R|MYH11_ENST00000396324.3_Missense_Mutation_p.T287R	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	280	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T280R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GATGTGGAATGTCCTCTCGTC	0.483			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	1	Substitution - Missense(1)	ovary(1)	16											346	308	321					16																	15869985		2197	4300	6497	15777486	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.839C>G	16.37:g.15869985G>C	ENSP00000300036:p.Thr280Arg		15777486	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134336	0.77662	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.060749	0.64402	D	0.000003	T	0.80025	0.4548	M	0.87269	2.87	0.80722	D	1	B;B;B;B;B	0.25048	0.022;0.117;0.117;0.117;0.117	B;B;B;B;B	0.34722	0.188;0.123;0.123;0.123;0.123	T	0.78966	-0.1995	10	0.87932	D	0	.	18.8584	0.92262	0.0:0.0:1.0:0.0	.	287;280;287;280;287	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	R	280;280;287;287;287	ENSP00000300036:T280R;ENSP00000345136:T280R;ENSP00000379616:T287R;ENSP00000407821:T287R	ENSP00000300036:T280R	T	-	2	0	MYH11	15777486	1.000000	0.71417	0.982000	0.44146	0.939000	0.58152	9.497000	0.97970	2.804000	0.96469	0.462000	0.41574	ACA		0.483	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		C	15869985	G	C	15869985	3	2	373	1	0	0	0	0	1	0	0	0	10031	1377	48	3	5250	3	MYH11	16	15869985	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10		15869985	74484768	35	20543											
TP53	7157	hgsc.bcm.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	17	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	7518273	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser		7518273	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577548	C	T	7577548	3	4	373	1	0	0	0	0	1	0	0	0	16381	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10		7577548	73617662	36	20544											
SPOP	8405	hgsc.bcm.edu	37	17	47684704	47684704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr17:47684704C>A	ENST00000393328.2	-	9	1110	c.745G>T	c.(745-747)Gaa>Taa	p.E249*	SPOP_ENST00000503676.1_Nonsense_Mutation_p.E249*|SPOP_ENST00000393331.3_Nonsense_Mutation_p.E249*|SPOP_ENST00000347630.2_Nonsense_Mutation_p.E249*|SPOP_ENST00000504102.1_Nonsense_Mutation_p.E249*	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	249	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.E249*(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTAAAAACTTCAGGCTCCACA	0.388										Prostate(2;0.17)																																						1	Substitution - Nonsense(1)	ovary(1)	17											103	96	99					17																	47684704		2203	4300	6503	45039703	SO:0001587	stop_gained	8405			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.745G>T	17.37:g.47684704C>A	ENSP00000377001:p.Glu249*		45039703	B2R6S3|D3DTW7|Q53HJ1	Nonsense_Mutation	SNP	ENST00000393328.2	37	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	40	8.388393	0.98789	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079	.	.	.	5.43	5.43	0.79202	.	0.049005	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-6.4069	19.0206	0.92912	0.0:1.0:0.0:0.0	.	.	.	.	X	249;249;249;249;133;249;202;249	.	ENSP00000240327:E249X	E	-	1	0	SPOP	45039703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	GAA		0.388	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		A	47684704	C	A	47684704	4	1	373	1	0	0	0	0	0	1	0	0	15086	835	29	3	391	3	SPOP	17	47684704	Nonsense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10	40107156	47684704	33510506	37	20545											
RNF213	57674	hgsc.bcm.edu	37	17	78320334	78320334	+	Silent	SNP	G	G	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr17:78320334G>A	ENST00000582970.1	+	29	8342	c.8199G>A	c.(8197-8199)ctG>ctA	p.L2733L	RNF213_ENST00000508628.2_Silent_p.L2782L|RNF213_ENST00000336301.6_Silent_p.L806L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2733					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L806L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCTTTTTCTGGACGGCGTAC	0.507																																																1	Substitution - coding silent(1)	ovary(1)	17											65	60	62					17																	78320334		2203	4300	6503	75934929	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8199G>A	17.37:g.78320334G>A			75934929	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78320334	G	A	78320334	2	1	373	1	0	0	0	0	0	0	0	1	13480	1335	47	2		2	RNF213	17	78320334	Silent	SNP	G	TCGA-36-1568-01A-01W-0615-10	30635630	78320334	2874876	38	20546											
LAIR2	3904	hgsc.bcm.edu	37	19	55019332	55019332	+	Silent	SNP	T	T	C			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr19:55019332T>C	ENST00000301202.2	+	3	419	c.297T>C	c.(295-297)taT>taC	p.Y99Y	LAIR2_ENST00000351841.2_Silent_p.Y99Y	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	99	Ig-like C2-type.					extracellular region (GO:0005576)		p.Y99Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCGGGCTTTATCGCTGCCTCT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	19											121	113	116					19																	55019332		2203	4300	6503	59711144	SO:0001819	synonymous_variant	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.297T>C	19.37:g.55019332T>C			59711144	Q6PEZ4	Silent	SNP	ENST00000301202.2	37	CCDS12897.1																																																																																				0.507	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			C	55019332	T	C	55019332	2	2	373	1	0	0	0	0	0	0	0	1	8603	1442	50	4		4	LAIR2	19	55019332	Silent	SNP	T	TCGA-36-1568-01A-01W-0615-10		55019332	4109651	39	20547											
TMPRSS6	164656	hgsc.bcm.edu	37	22	37494472	37494472	+	Missense_Mutation	SNP	G	G	T	rs376849230		TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chr22:37494472G>T	ENST00000346753.3	-	3	463	c.347C>A	c.(346-348)gCc>gAc	p.A116D	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A107D|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A116D|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A107D|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A107D	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	116	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.			A -> V (in Ref. 1; CAC85953). {ECO:0000305}.	angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.A116D(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGGCTTTGGCGGTTTCACT	0.562																																																1	Substitution - Missense(1)	ovary(1)	22											297	295	296					22																	37494472		2203	4300	6503	35824418	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.347C>A	22.37:g.37494472G>T	ENSP00000334962:p.Ala116Asp		35824418	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122476	0.37436	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	4.97	3.94	0.45596	SEA (1);	0.216559	0.41194	D	0.000935	T	0.46541	0.1398	L	0.29908	0.895	0.38521	D	0.948727	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.69824	0.951;0.943;0.966	T	0.45512	-0.9256	10	0.45353	T	0.12	.	8.4549	0.32893	0.0863:0.1526:0.7611:0.0	.	116;107;116	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	D	107;116;107;107;116;107	ENSP00000371211:A107D;ENSP00000334962:A116D;ENSP00000385453:A107D;ENSP00000384964:A107D;ENSP00000397691:A116D;ENSP00000400317:A107D	ENSP00000334962:A116D	A	-	2	0	TMPRSS6	35824418	0.995000	0.38212	0.987000	0.45799	0.934000	0.57294	1.948000	0.40303	2.293000	0.77203	0.561000	0.74099	GCC		0.562	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37494472	G	T	37494472	3	4	373	1	0	0	0	0	1	0	0	0	16251	1203	42	3	2152	3	TMPRSS6	22	37494472	Missense_Mutation	SNP	G	TCGA-36-1568-01A-01W-0615-10		37494472	13810094	40	20548											
TLR8	51311	hgsc.bcm.edu	37	X	12939056	12939056	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chrX:12939056T>A	ENST00000218032.6	+	2	1984	c.1897T>A	c.(1897-1899)Tcc>Acc	p.S633T	TLR8_ENST00000311912.5_Missense_Mutation_p.S651T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	633					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.S651T(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CAGGTATATCTCCATTTTCAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											60	59	60					X																	12939056		2202	4298	6500	12848977	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1897T>A	X.37:g.12939056T>A	ENSP00000218032:p.Ser633Thr		12848977	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	3.869	-0.028328	0.07589	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.80214	-1.35;-1.35	5.82	-11.6	0.00059	.	1.256240	0.06147	N	0.673473	T	0.58438	0.2122	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.46638	-0.9177	10	0.49607	T	0.09	.	0.3231	0.00306	0.3073:0.1443:0.206:0.3424	.	633;651	Q9NR97;D1CS70	TLR8_HUMAN;.	T	633;651	ENSP00000218032:S633T;ENSP00000312082:S651T	ENSP00000218032:S633T	S	+	1	0	TLR8	12848977	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.852000	0.04308	-1.861000	0.01153	0.486000	0.48141	TCC		0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		A	12939056	T	A	12939056	3	1	373	1	0	0	0	0	1	0	0	0	15957	1551	54	5	1903	5	TLR8	23	12939056	Missense_Mutation	SNP	T	TCGA-36-1568-01A-01W-0615-10		12939056	142331504	41	20549											
PTCHD1	139411	hgsc.bcm.edu	37	X	23397858	23397858	+	Silent	SNP	C	C	A			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chrX:23397858C>A	ENST00000379361.4	+	2	1362	c.502C>A	c.(502-504)Cgg>Agg	p.R168R		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	168					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.R63R(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GGCCACCAATCGGACCAATTT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	X											100	86	90					X																	23397858		2203	4300	6503	23307779	SO:0001819	synonymous_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.502C>A	X.37:g.23397858C>A			23307779	B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	CCDS35215.2																																																																																				0.488	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		A	23397858	C	A	23397858	2	1	373	1	0	0	0	0	0	0	0	1	12735	875	31	3		3	PTCHD1	23	23397858	Silent	SNP	C	TCGA-36-1568-01A-01W-0615-10	10458802	23397858	131872702	42	20550											
TEX11	56159	hgsc.bcm.edu	37	X	69945170	69945170	+	Silent	SNP	A	A	G			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chrX:69945170A>G	ENST00000395889.2	-	13	1067	c.912T>C	c.(910-912)ctT>ctC	p.L304L	TEX11_ENST00000374333.2_Silent_p.L289L|TEX11_ENST00000344304.3_Silent_p.L304L|TEX11_ENST00000374320.2_5'Flank	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	304					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.L289L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTTTTAAGAAAAGCCCAGGAG	0.318																																																1	Substitution - coding silent(1)	ovary(1)	X											79	75	76					X																	69945170		2201	4297	6498	69861895	SO:0001819	synonymous_variant	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.912T>C	X.37:g.69945170A>G			69861895	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	CCDS35323.1																																																																																				0.318	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			G	69945170	A	G	69945170	2	3	373	1	0	0	0	0	0	0	0	1	15774	1	1	4		4	TEX11	23	69945170	Silent	SNP	A	TCGA-36-1568-01A-01W-0615-10	46547312	69945170	85325390	43	20551											
CPXCR1	53336	hgsc.bcm.edu	37	X	88009031	88009031	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1568-01A-01W-0615-10	TCGA-36-1568-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	225f5cd1-52d7-40bf-9cf7-35d5ef11fd14	78072af8-358b-4134-b443-0cbf712de3dc	g.chrX:88009031C>T	ENST00000276127.4	+	3	875	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R206C	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	206							metal ion binding (GO:0046872)	p.R206C(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GCACTACTACCGTCCCCTCAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											75	60	65					X																	88009031		2203	4300	6503	87895687	SO:0001583	missense	53336			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.616C>T	X.37:g.88009031C>T	ENSP00000276127:p.Arg206Cys		87895687	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006596	0.35415	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.25085	1.82;1.82	2.85	1.06	0.20224	.	1.440130	0.04976	N	0.464830	T	0.15392	0.0371	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.15484	0.013	T	0.26326	-1.0106	9	.	.	.	0.1407	4.6943	0.12795	0.0:0.6831:0.0:0.3169	.	206	Q8N123	CPXCR_HUMAN	C	206	ENSP00000276127:R206C;ENSP00000362203:R206C	.	R	+	1	0	CPXCR1	87895687	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.135000	0.15952	0.165000	0.19558	0.594000	0.82650	CGT		0.423	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		T	88009031	C	T	88009031	3	4	373	1	0	0	0	0	1	0	0	0	3836	652	23	1	618	1	CPXCR1	23	88009031	Missense_Mutation	SNP	C	TCGA-36-1568-01A-01W-0615-10	18063861	88009031	67261529	44	20552											
TRIM58	25893	hgsc.bcm.edu	37	1	248039774	248039774	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1569-01A-01W-0615-10	TCGA-36-1569-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	82094981-e567-4a6c-b7e9-3325d3a96620	7e04e51b-05af-4b7b-b2fd-6d437e234dee	g.chr1:248039774A>G	ENST00000366481.3	+	6	1492	c.1444A>G	c.(1444-1446)Aga>Gga	p.R482G	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	482						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R482G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTGATGTAAGAGATGATCA	0.433																																																1	Substitution - Missense(1)	ovary(1)	1											61	58	59					1																	248039774		2203	4300	6503	246106397	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1444A>G	1.37:g.248039774A>G	ENSP00000355437:p.Arg482Gly		246106397	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270805	0.40194	.	.	ENSG00000162722	ENST00000366481	T	0.61392	0.11	3.52	-1.41	0.08941	.	0.619245	0.13702	N	0.368760	T	0.31949	0.0813	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.19679	-1.0298	10	0.87932	D	0	.	7.1653	0.25687	0.5629:0.0:0.4371:0.0	.	482	Q8NG06	TRI58_HUMAN	G	482	ENSP00000355437:R482G	ENSP00000355437:R482G	R	+	1	2	TRIM58	246106397	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.082000	0.30803	-0.286000	0.09076	-0.297000	0.09499	AGA		0.433	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		G	248039774	A	G	248039774	3	3	374	1	0	0	0	0	1	0	0	0	16531	64	3	4	1466	4	TRIM58	1	248039774	Missense_Mutation	SNP	A	TCGA-36-1569-01A-01W-0615-10		248039774	1210847	1	20553											
SETD2	29072	hgsc.bcm.edu	37	3	47162591	47162591	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1569-01A-01W-0615-10	TCGA-36-1569-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	82094981-e567-4a6c-b7e9-3325d3a96620	7e04e51b-05af-4b7b-b2fd-6d437e234dee	g.chr3:47162591C>G	ENST00000409792.3	-	3	3577	c.3535G>C	c.(3535-3537)Gac>Cac	p.D1179H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1179					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.D676H(1)|p.D1179H(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCCAGAGGGTCAGATTTCACA	0.418			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	ovary(2)	3											117	122	120					3																	47162591		2203	4300	6503	47137595	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3535G>C	3.37:g.47162591C>G	ENSP00000386759:p.Asp1179His		47137595	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017306	0.54576	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89746	-2.56;1.31	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	D	0.90157	0.6924	N	0.24115	0.695	0.42940	D	0.994348	D;D	0.67145	0.996;0.996	P;P	0.61800	0.894;0.894	D	0.91385	0.5130	10	0.87932	D	0	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	1179;1179	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1179;1179;1179;1135	ENSP00000386759:D1179H;ENSP00000416401:D1135H	ENSP00000386759:D1179H	D	-	1	0	SETD2	47137595	0.018000	0.18449	0.972000	0.41901	0.747000	0.42532	0.620000	0.24403	2.885000	0.99019	0.655000	0.94253	GAC		0.418	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47162591	C	G	47162591	3	3	374	1	0	0	0	0	1	0	0	0	14134	826	29	3	4235	3	SETD2	3	47162591	Missense_Mutation	SNP	C	TCGA-36-1569-01A-01W-0615-10		47162591	150859839	2	20554											
MORC1	27136	hgsc.bcm.edu	37	3	108724097	108724097	+	Silent	SNP	G	G	A			TCGA-36-1569-01A-01W-0615-10	TCGA-36-1569-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	82094981-e567-4a6c-b7e9-3325d3a96620	7e04e51b-05af-4b7b-b2fd-6d437e234dee	g.chr3:108724097G>A	ENST00000483760.1	-	18	1813	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	MORC1_ENST00000232603.5_Silent_p.S611S					MORC family CW-type zinc finger 1									p.S611S(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAAGCTCAAAGGATGAAAGAG	0.343																																																1	Substitution - coding silent(1)	ovary(1)	3											52	53	52					3																	108724097		2203	4299	6502	110206787	SO:0001819	synonymous_variant	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1770C>T	3.37:g.108724097G>A			110206787		Silent	SNP	ENST00000483760.1	37																																																																																					0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108724097	G	A	108724097	2	1	374	1	0	0	0	0	0	0	0	1	9701	987	35	2		2	MORC1	3	108724097	Silent	SNP	G	TCGA-36-1569-01A-01W-0615-10	61561506	108724097	89298333	3	20555											
CPXM2	119587	hgsc.bcm.edu	37	10	125539716	125539716	+	Missense_Mutation	SNP	A	A	C			TCGA-36-1569-01A-01W-0615-10	TCGA-36-1569-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	82094981-e567-4a6c-b7e9-3325d3a96620	7e04e51b-05af-4b7b-b2fd-6d437e234dee	g.chr10:125539716A>C	ENST00000241305.3	-	7	1099	c.945T>G	c.(943-945)gaT>gaG	p.D315E	RP11-391M7.3_ENST00000446888.1_RNA|CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	315					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.D315E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGTGCTTAAAATCCAGGTCAT	0.403																																																1	Substitution - Missense(1)	ovary(1)	10											213	206	208					10																	125539716		2203	4300	6503	125529706	SO:0001583	missense	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.945T>G	10.37:g.125539716A>C	ENSP00000241305:p.Asp315Glu		125529706	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290853	0.59976	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.03272	3.99	4.62	-0.24	0.13047	.	0.000000	0.85682	D	0.000000	T	0.10121	0.0248	M	0.77486	2.375	0.80722	D	1	P	0.41475	0.751	P	0.50352	0.638	T	0.01844	-1.1262	10	0.56958	D	0.05	-21.1332	10.2152	0.43164	0.4941:0.0:0.5059:0.0	.	315	Q8N436	CPXM2_HUMAN	E	315;148;315	ENSP00000241305:D315E	ENSP00000241305:D315E	D	-	3	2	CPXM2	125529706	1.000000	0.71417	0.995000	0.50966	0.742000	0.42306	1.247000	0.32815	-0.203000	0.10251	0.533000	0.62120	GAT		0.403	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		C	125539716	A	C	125539716	3	2	374	1	0	0	0	0	1	0	0	0	3838	98	4	5	1357	5	CPXM2	10	125539716	Missense_Mutation	SNP	A	TCGA-36-1569-01A-01W-0615-10		125539716	9995031	4	20556											
HNF1A	6927	hgsc.bcm.edu	37	12	121437383	121437383	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1569-01A-01W-0615-10	TCGA-36-1569-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	82094981-e567-4a6c-b7e9-3325d3a96620	7e04e51b-05af-4b7b-b2fd-6d437e234dee	g.chr12:121437383G>A	ENST00000257555.6	+	9	1947	c.1721G>A	c.(1720-1722)aGc>aAc	p.S574N	HNF1A_ENST00000544413.1_Missense_Mutation_p.S581N|HNF1A_ENST00000541395.1_Missense_Mutation_p.S605N|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	574			G -> S (in a black African with an atypical form of diabetes; also in an individual with hepatic adenoma and familial early-onset diabetes; dbSNP:rs1169305). {ECO:0000269|PubMed:12355088, ECO:0000269|PubMed:9392505, ECO:0000269|Ref.5, ECO:0000269|Ref.6}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G574D(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACCCTGCCAGCATCCAGCAC	0.682									Hepatic Adenoma, Familial Clustering of																																							2	Substitution - Missense(2)	ovary(1)|breast(1)	12											19	20	20					12																	121437383		2193	4286	6479	119921766	SO:0001583	missense	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1721G>A	12.37:g.121437383G>A	ENSP00000257555:p.Ser574Asn		119921766	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795696	0.31777	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.90955	-2.76;-2.76;-2.76	5.7	3.86	0.44501	.	0.356160	0.23971	N	0.042775	T	0.79329	0.4427	N	0.19112	0.55	0.37600	D	0.920508	B	0.02656	0.0	B	0.04013	0.001	T	0.68788	-0.5316	10	0.02654	T	1	-10.4857	9.4767	0.38875	0.1737:0.0:0.8263:0.0	.	581	F5H0K0	.	N	574;466;574;395;605;581	ENSP00000257555:S574N;ENSP00000443112:S605N;ENSP00000438804:S581N	ENSP00000257555:S574N	S	+	2	0	HNF1A	119921766	0.945000	0.32115	0.615000	0.29064	0.685000	0.39939	1.703000	0.37846	0.742000	0.32697	0.650000	0.86243	AGC		0.682	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		A	121437383	G	A	121437383	3	1	374	1	0	0	0	0	1	0	0	0	7251	971	34	2	1755	2	HNF1A	12	121437383	Missense_Mutation	SNP	G	TCGA-36-1569-01A-01W-0615-10		121437383	12414512	5	20557											
TP53	7157	hgsc.bcm.edu	37	17	7579529	7579529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-1569-01A-01W-0615-10	TCGA-36-1569-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	82094981-e567-4a6c-b7e9-3325d3a96620	7e04e51b-05af-4b7b-b2fd-6d437e234dee	g.chr17:7579529C>T	ENST00000269305.4	-	4	347	c.158G>A	c.(157-159)tGg>tAg	p.W53*	TP53_ENST00000455263.2_Nonsense_Mutation_p.W53*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W53*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W53*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.W53*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W53*	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	53	Interaction with HRMT1L2.		W -> C (in sporadic cancers; somatic mutation).|W -> G (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.W53*(4)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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)	TTCAGTGAACCATTGTTCAAT	0.592		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"	17	Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Nonsense(4)	bone(4)|central_nervous_system(3)|upper_aerodigestive_tract(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|breast(1)|prostate(1)|pancreas(1)	17											165	165	165					17																	7579529		2203	4300	6503	7520254	SO:0001587	stop_gained	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.158G>A	17.37:g.7579529C>T	ENSP00000269305:p.Trp53*		7520254	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.698823	0.48307	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.95	1.81	0.25067	.	12.513700	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0528	8.5999	0.33738	0.4355:0.5645:0.0:0.0	.	.	.	.	X	53	.	ENSP00000269305:W53X	W	-	2	0	TP53	7520254	0.022000	0.18835	0.007000	0.13788	0.007000	0.05969	0.398000	0.20899	0.545000	0.28902	0.561000	0.74099	TGG		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7579529	C	T	7579529	4	4	374	1	0	0	0	0	0	1	0	0	16381	595	21	2	1144	2	TP53	17	7579529	Nonsense_Mutation	SNP	C	TCGA-36-1569-01A-01W-0615-10		7579529	73615681	6	20558											
MARCH2	51257	hgsc.bcm.edu	37	19	8491569	8491569	+	Missense_Mutation	SNP	A	A	T			TCGA-36-1569-01A-01W-0615-10	TCGA-36-1569-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	82094981-e567-4a6c-b7e9-3325d3a96620	7e04e51b-05af-4b7b-b2fd-6d437e234dee	g.chr19:8491569A>T	ENST00000602117.1	+	3	708	c.253A>T	c.(253-255)Acg>Tcg	p.T85S	MARCH2_ENST00000381035.4_Missense_Mutation_p.T85S|MARCH2_ENST00000215555.2_Missense_Mutation_p.T85S|MARCH2_ENST00000601283.1_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000393944.1_Missense_Mutation_p.T85S			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	85					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T85S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CTGCACCGGCACGCTGGGTGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											94	73	80					19																	8491569		2203	4300	6503	8397569	SO:0001583	missense	51257			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28038	protein-coding gene	gene with protein product		613332	"membrane-associated ring finger (C3HC4) 2"			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.253A>T	19.37:g.8491569A>T	ENSP00000471536:p.Thr85Ser		8397569	A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	a	2.468	-0.322627	0.05350	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.39056	1.1;1.1;1.1	5.41	4.4	0.53042	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.160364	0.53938	D	0.000059	T	0.46425	0.1392	N	0.20574	0.59	0.51233	D	0.999914	D;D	0.76494	0.971;0.999	P;D	0.83275	0.562;0.996	T	0.32375	-0.9909	10	0.30078	T	0.28	-8.5394	11.7542	0.51866	0.8523:0.1476:0.0:0.0	.	85;85	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	S	85	ENSP00000377518:T85S;ENSP00000215555:T85S;ENSP00000370423:T85S	ENSP00000215555:T85S	T	+	1	0	MARCH2	8397569	1.000000	0.71417	0.909000	0.35828	0.096000	0.18686	6.066000	0.71185	0.905000	0.36596	-0.377000	0.06932	ACG		0.587	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		T	8491569	A	T	8491569	3	4	374	1	0	0	0	0	1	0	0	0	9301	159	6	5	259	5	MARCH2	19	8491569	Missense_Mutation	SNP	A	TCGA-36-1569-01A-01W-0615-10		8491569	50637414	7	20559											
SLC12A5	57468	hgsc.bcm.edu	37	20	44673649	44673649	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1569-01A-01W-0615-10	TCGA-36-1569-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	82094981-e567-4a6c-b7e9-3325d3a96620	7e04e51b-05af-4b7b-b2fd-6d437e234dee	g.chr20:44673649C>T	ENST00000454036.2	+	12	1557	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A480V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	503					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.A480V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCACTCTGGCCTGGCCATCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	20											187	170	176					20																	44673649		2203	4300	6503	44107056	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1508C>T	20.37:g.44673649C>T	ENSP00000387694:p.Ala503Val		44107056	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260564	0.80246	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98701	-5.08;-5.08	4.12	4.12	0.48240	Amino acid permease domain (1);	0.000000	0.64402	D	0.000001	D	0.97259	0.9104	L	0.43152	1.355	0.80722	D	1	P;P	0.41041	0.736;0.69	P;B	0.46339	0.513;0.379	D	0.96645	0.9477	10	0.19590	T	0.45	.	15.1071	0.72329	0.0:1.0:0.0:0.0	.	503;480	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	503;480	ENSP00000387694:A503V;ENSP00000243964:A480V	ENSP00000243964:A480V	A	+	2	0	SLC12A5	44107056	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.320000	0.79064	2.117000	0.64856	0.313000	0.20887	GCC		0.612	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44673649	C	T	44673649	3	4	374	1	0	0	0	0	1	0	0	0	14389	739	26	2	1610	2	SLC12A5	20	44673649	Missense_Mutation	SNP	C	TCGA-36-1569-01A-01W-0615-10		44673649	18351871	8	20560											
EIF2S3	1968	hgsc.bcm.edu	37	X	24086170	24086170	+	Silent	SNP	A	A	T			TCGA-36-1569-01A-01W-0615-10	TCGA-36-1569-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	82094981-e567-4a6c-b7e9-3325d3a96620	7e04e51b-05af-4b7b-b2fd-6d437e234dee	g.chrX:24086170A>T	ENST00000253039.4	+	9	1210	c.957A>T	c.(955-957)gtA>gtT	p.V319V		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	319					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.V319V(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CCAAAATTGTATCACTTTTTG	0.378																																																1	Substitution - coding silent(1)	ovary(1)	X											94	86	89					X																	24086170		2203	4300	6503	23996091	SO:0001819	synonymous_variant	1968			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.957A>T	X.37:g.24086170A>T			23996091	B5BTZ4	Silent	SNP	ENST00000253039.4	37	CCDS14210.1																																																																																				0.378	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		T	24086170	A	T	24086170	2	4	374	1	0	0	0	0	0	0	0	1	5011	436	16	5		5	EIF2S3	23	24086170	Silent	SNP	A	TCGA-36-1569-01A-01W-0615-10		24086170	131184390	9	20561											
HSPG2	3339	hgsc.bcm.edu	37	1	22213974	22213974	+	Silent	SNP	G	G	C			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr1:22213974G>C	ENST00000374695.3	-	8	976	c.897C>G	c.(895-897)ccC>ccG	p.P299P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	299	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.P299P(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTAGTCTCTGGGGATGCAGT	0.692																																																1	Substitution - coding silent(1)	ovary(1)	1											76	86	83					1																	22213974		2203	4300	6503	22086561	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.897C>G	1.37:g.22213974G>C			22086561	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050292	0.36181	.	.	ENSG00000142798	ENST00000412328;ENST00000374673	T;D	0.95949	0.51;-3.86	5.09	1.75	0.24633	.	0.188493	0.26062	N	0.026563	D	0.89884	0.6844	.	.	.	0.80722	D	1	B	0.29590	0.25	B	0.31495	0.131	D	0.83578	0.0116	9	0.26408	T	0.33	.	5.8462	0.18667	0.2012:0.1649:0.6339:0.0	.	222	Q5SZI5	.	R	222;126	ENSP00000405412:P222R;ENSP00000363805:P126R	ENSP00000363805:P126R	P	-	2	0	HSPG2	22086561	0.113000	0.22115	0.999000	0.59377	0.054000	0.15201	0.428000	0.21395	1.152000	0.42452	0.462000	0.41574	CCA		0.692	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		C	22213974	G	C	22213974	2	2	375	1	0	0	0	0	0	0	0	1	7430	1335	47	3		3	HSPG2	1	22213974	Silent	SNP	G	TCGA-36-1570-01A-01W-0615-10		22213974	227036647	1	20562											
SMPDL3B	27293	hgsc.bcm.edu	37	1	28271811	28271811	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr1:28271811G>A	ENST00000373894.3	+	2	321	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.V44M|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000466793.1_3'UTR|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.V44M	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	44					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.V44M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CCCCTTCCAGGTGTGCCCATC	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											65	62	63					1																	28271811		2203	4300	6503	28144398	SO:0001583	missense	27293			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.130G>A	1.37:g.28271811G>A	ENSP00000363001:p.Val44Met		28144398	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107790	0.37242	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	4.82	4.82	0.62117	Metallophosphoesterase domain (1);	0.329460	0.31734	N	0.007143	D	0.88973	0.6583	L	0.31752	0.955	0.30881	N	0.731398	D;D;P	0.58268	0.982;0.972;0.838	P;P;B	0.52598	0.523;0.703;0.414	D	0.87761	0.2598	10	0.41790	T	0.15	-26.3392	14.3239	0.66505	0.0:0.1494:0.8506:0.0	.	44;44;44	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	M	44;74;74;44;44;44	ENSP00000363001:V44M;ENSP00000388092:V74M;ENSP00000362995:V44M;ENSP00000449450:V44M	ENSP00000362995:V44M	V	+	1	0	SMPDL3B	28144398	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	7.101000	0.76997	2.220000	0.72140	0.655000	0.94253	GTG		0.572	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		A	28271811	G	A	28271811	3	1	375	1	0	0	0	0	1	0	0	0	14812	1261	44	2	136	2	SMPDL3B	1	28271811	Missense_Mutation	SNP	G	TCGA-36-1570-01A-01W-0615-10	6057837	28271811	220978810	2	20563											
FBLN7	129804	hgsc.bcm.edu	37	2	112944983	112944983	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr2:112944983C>T	ENST00000331203.2	+	8	1491	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FBLN7_ENST00000409450.3_Missense_Mutation_p.T361M|FBLN7_ENST00000409667.3_Missense_Mutation_p.T273M|FBLN7_ENST00000409903.1_Missense_Mutation_p.R323C	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	407					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T407M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGCCTCAGACGCTGGAGGTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											109	103	105					2																	112944983		2203	4300	6503	112661454	SO:0001583	missense	129804				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1220C>T	2.37:g.112944983C>T	ENSP00000331411:p.Thr407Met		112661454	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.14|19.14	3.770265|3.770265	0.69992|0.69992	.|.	.|.	ENSG00000144152|ENSG00000144152	ENST00000409903|ENST00000331203;ENST00000409667;ENST00000409450;ENST00000272559	T|T;T;T;T	0.81163|0.47528	-1.46|0.84;0.84;0.84;0.84	5.15|5.15	4.26|4.26	0.50523|0.50523	.|.	.|0.237694	.|0.42964	.|D	.|0.000625	T|T	0.51024|0.51024	0.1650|0.1650	L|L	0.44542|0.44542	1.39|1.39	0.33592|0.33592	D|D	0.601161|0.601161	B|D;D;D	0.06786|0.64830	0.001|0.992;0.994;0.989	B|P;P;P	0.04013|0.56278	0.001|0.736;0.795;0.723	T|T	0.63550|0.63550	-0.6612|-0.6612	9|10	0.54805|0.56958	T|D	0.06|0.05	-16.0241|-16.0241	9.4522|9.4522	0.38734|0.38734	0.0:0.8418:0.0:0.1582|0.0:0.8418:0.0:0.1582	.|.	323|273;361;407	B8ZZC1|Q53RD9-4;Q53RD9-2;Q53RD9	.|.;.;FBLN7_HUMAN	C|M	323|407;273;361;229	ENSP00000386295:R323C|ENSP00000331411:T407M;ENSP00000386822:T273M;ENSP00000387000:T361M;ENSP00000272559:T229M	ENSP00000386295:R323C|ENSP00000272559:T229M	R|T	+|+	1|2	0|0	FBLN7|FBLN7	112661454|112661454	0.997000|0.997000	0.39634|0.39634	0.978000|0.978000	0.43139|0.43139	0.967000|0.967000	0.64934|0.64934	3.540000|3.540000	0.53611|0.53611	2.392000|2.392000	0.81423|0.81423	0.555000|0.555000	0.69702|0.69702	CGC|ACG		0.592	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		T	112944983	C	T	112944983	3	4	375	1	0	0	0	0	1	0	0	0	5701	536	19	1	1250	1	FBLN7	2	112944983	Missense_Mutation	SNP	C	TCGA-36-1570-01A-01W-0615-10		112944983	130254390	3	20564											
PGAP1	80055	hgsc.bcm.edu	37	2	197708779	197708780	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr2:197708779_197708780insTA	ENST00000354764.4	-	25	2471_2472	c.2357_2358insTA	c.(2356-2358)agafs	p.R786fs		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	786					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.R786fs*35(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCTTTTCACTTCTTCTAGAGTG	0.327																																																1	Insertion - Frameshift(1)	ovary(1)	2																																								197417025	SO:0001589	frameshift_variant	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2357_2358insTA	2.37:g.197708779_197708780insTA	ENSP00000346809:p.Arg786fs		197417024	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Frame_Shift_Ins	INS	ENST00000354764.4	37	CCDS2318.1																																																																																				0.327	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		TA	197708780	-	TA	197708779	7	5	375	1	0	1	1	0	0	0	0	0	11777	1780	62	0	422	0	PGAP1	2	197708779	Frame_Shift_Ins	INS	-	TCGA-36-1570-01A-01W-0615-10	84763796	197708779	45490594	4	20565											
AOX1	316	hgsc.bcm.edu	37	2	201507524	201507524	+	Splice_Site	SNP	G	G	T			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr2:201507524G>T	ENST00000374700.2	+	25	3088	c.2847G>T	c.(2845-2847)aaG>aaT	p.K949N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	949					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.K949N(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCCCTGAGAAGGTAATACTAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											63	61	61					2																	201507524		2203	4300	6503	201215769	SO:0001630	splice_region_variant	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2847+1G>T	2.37:g.201507524G>T			201215769	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685438	0.88639	.	.	ENSG00000138356	ENST00000374700	T	0.45276	0.9	5.17	5.17	0.71159	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.327832	0.36815	N	0.002396	T	0.57388	0.2050	M	0.78916	2.43	0.80722	D	1	B	0.25719	0.132	B	0.39935	0.314	T	0.60816	-0.7188	10	0.72032	D	0.01	-21.2903	18.8573	0.92257	0.0:0.0:1.0:0.0	.	949	Q06278	ADO_HUMAN	N	949	ENSP00000363832:K949N	ENSP00000363832:K949N	K	+	3	2	AOX1	201215769	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	7.411000	0.80078	2.695000	0.91970	0.549000	0.68633	AAG		0.502	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation	T	201507524	G	T	201507524	5	4	375	1	0	0	0	0	0	0	1	0	729	1014	35	3	2945	3	AOX1	2	201507524	Splice_Site	SNP	G	TCGA-36-1570-01A-01W-0615-10	3798745	201507524	41691849	5	20566											
IRAK2	3656	hgsc.bcm.edu	37	3	10283843	10283843	+	Silent	SNP	G	G	A	rs372186246		TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr3:10283843G>A	ENST00000256458.4	+	13	1899	c.1809G>A	c.(1807-1809)agG>agA	p.R603R		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	603					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.R603R(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGGCCAAAAGGAAACTGATGG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	3											94	95	95					3																	10283843		2203	4300	6503	10258843	SO:0001819	synonymous_variant	3656			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1809G>A	3.37:g.10283843G>A			10258843	B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	CCDS33697.1																																																																																				0.418	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			A	10283843	G	A	10283843	2	1	375	1	0	0	0	0	0	0	0	1	7823	1165	41	2		2	IRAK2	3	10283843	Silent	SNP	G	TCGA-36-1570-01A-01W-0615-10		10283843	187738587	6	20567											
ALDH1L1	10840	hgsc.bcm.edu	37	3	125872285	125872285	+	Splice_Site	SNP	A	A	T			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr3:125872285A>T	ENST00000393434.2	-	7	1208		c.e7+1		ALDH1L1_ENST00000455064.2_Missense_Mutation_p.V112E|ALDH1L1_ENST00000413612.1_Splice_Site|ALDH1L1_ENST00000273450.3_Splice_Site|ALDH1L1_ENST00000472186.1_Splice_Site|ALDH1L1_ENST00000452905.2_Splice_Site|ALDH1L1_ENST00000393431.2_Splice_Site	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGCCCTTACCATTTTGTC	0.582																																																1	Unknown(1)	ovary(1)	3											97	94	95					3																	125872285		2203	4300	6503	127354975	SO:0001630	splice_region_variant	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.858+1T>A	3.37:g.125872285A>T			127354975	B4DG36|E9PBX3|Q68CS1	Splice_Site	SNP	ENST00000393434.2	37	CCDS3034.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.63|18.63	3.665984|3.665984	0.67700|0.67700	.|.	.|.	ENSG00000144908|ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431|ENST00000455064	.|T	.|0.51574	.|0.7	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65249	.|0.2673	.|.	.|.	.|.	0.49687|0.49687	D|D	0.999816|0.999816	.|D;D	.|0.76494	.|0.999;0.993	.|D;D	.|0.73708	.|0.981;0.935	.|T	.|0.67292	.|-0.5707	.|8	.|0.49607	.|T	.|0.09	.|.	11.3371|11.3371	0.49511|0.49511	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|112;192	.|B4DGC8;Q9UFA9	.|.;.	.|E	-1|112	.|ENSP00000414126:V112E	.|ENSP00000414126:V112E	.|V	-|-	.|2	.|0	ALDH1L1|ALDH1L1	127354975|127354975	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.879000|0.879000	0.50718|0.50718	8.389000|8.389000	0.90172|0.90172	1.777000|1.777000	0.52277|0.52277	0.383000|0.383000	0.25322|0.25322	.|GTA		0.582	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190	Intron	T	125872285	A	T	125872285	5	4	375	1	0	0	0	0	0	0	1	0	494	405	14	5	1916	5	ALDH1L1	3	125872285	Splice_Site	SNP	A	TCGA-36-1570-01A-01W-0615-10	115588442	125872285	72150145	7	20568											
RANBP3L	202151	hgsc.bcm.edu	37	5	36301481	36301481	+	Missense_Mutation	SNP	G	G	A	rs369444875		TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr5:36301481G>A	ENST00000296604.3	-	1	523	c.38C>T	c.(37-39)cCt>cTt	p.P13L	RANBP3L_ENST00000502994.1_Missense_Mutation_p.P13L|RANBP3L_ENST00000515759.1_Missense_Mutation_p.P13L	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	13					intracellular transport (GO:0046907)			p.P13L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CAAACTGCCAGGCAGGTGGCT	0.547																																																1	Substitution - Missense(1)	ovary(1)	5						A	LEU/PRO,LEU/PRO	3,4403	825.9+/-416.6	0,3,2200	157	146	150		38,38	3	0	5		150	0,8600		0,0,4300	no	missense,missense	RANBP3L	NM_145000.3,NM_001161429.1	98,98	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	13/466,13/491	36301481	3,13003	2203	4300	6503	36337238	SO:0001583	missense	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.38C>T	5.37:g.36301481G>A	ENSP00000296604:p.Pro13Leu		36337238	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	A	0.407	-0.915301	0.02415	6.81E-4	0.0	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	T;T;T;T	0.41400	2.04;1.98;2.01;1.0	5.49	3.03	0.35002	.	1.426610	0.04460	N	0.374138	T	0.18130	0.0435	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29088	-1.0023	10	0.02654	T	1	8.5623	4.7121	0.12877	0.6691:0.1612:0.1697:0.0	.	13;13	E9PGP9;Q86VV4	.;RNB3L_HUMAN	L	13	ENSP00000296604:P13L;ENSP00000421853:P13L;ENSP00000421149:P13L;ENSP00000427147:P13L	ENSP00000296604:P13L	P	-	2	0	RANBP3L	36337238	0.000000	0.05858	0.009000	0.14445	0.043000	0.13939	0.324000	0.19610	0.112000	0.17975	-0.269000	0.10298	CCT		0.547	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		A	36301481	G	A	36301481	3	1	375	1	0	0	0	0	1	0	0	0	13033	1000	35	2	1494	2	RANBP3L	5	36301481	Missense_Mutation	SNP	G	TCGA-36-1570-01A-01W-0615-10		36301481	144613779	8	20569											
APBB3	10307	hgsc.bcm.edu	37	5	139941750	139941750	+	Silent	SNP	G	G	A			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr5:139941750G>A	ENST00000357560.4	-	6	1004	c.561C>T	c.(559-561)caC>caT	p.H187H	SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000354402.5_Silent_p.H187H|APBB3_ENST00000412920.3_Silent_p.H187H|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000356738.2_Silent_p.H187H|APBB3_ENST00000358580.5_Silent_p.H187H|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Silent_p.H187H|APBB3_ENST00000507279.1_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	187	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H187H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCAGACTGTGGTCCAGGG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	5											87	79	81					5																	139941750		2203	4300	6503	139921934	SO:0001819	synonymous_variant	10307			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.561C>T	5.37:g.139941750G>A			139921934	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	ENST00000357560.4	37	CCDS4229.1																																																																																				0.582	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		A	139941750	G	A	139941750	2	1	375	1	0	0	0	0	0	0	0	1	762	1368	48	2		2	APBB3	5	139941750	Silent	SNP	G	TCGA-36-1570-01A-01W-0615-10	103640269	139941750	40973510	9	20570											
FAM83B	222584	hgsc.bcm.edu	37	6	54735464	54735464	+	Silent	SNP	G	G	A			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr6:54735464G>A	ENST00000306858.7	+	2	536	c.420G>A	c.(418-420)cgG>cgA	p.R140R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	140								p.R140R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAACTATTCGGAAGATGATAA	0.353																																																1	Substitution - coding silent(1)	ovary(1)	6											44	46	46					6																	54735464		2203	4299	6502	54843423	SO:0001819	synonymous_variant	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.420G>A	6.37:g.54735464G>A			54843423	Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	CCDS34479.1																																																																																				0.353	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		A	54735464	G	A	54735464	2	1	375	1	0	0	0	0	0	0	0	1	5634	1161	41	2		2	FAM83B	6	54735464	Silent	SNP	G	TCGA-36-1570-01A-01W-0615-10		54735464	116379603	10	20571											
SAMD9	54809	hgsc.bcm.edu	37	7	92733255	92733255	+	Missense_Mutation	SNP	T	T	G			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr7:92733255T>G	ENST00000379958.2	-	3	2425	c.2156A>C	c.(2155-2157)cAa>cCa	p.Q719P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	719						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.Q719P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCACAGTTTTGAATCATTGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											204	199	201					7																	92733255		2203	4300	6503	92571191	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2156A>C	7.37:g.92733255T>G	ENSP00000369292:p.Gln719Pro		92571191	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	4.541	0.100482	0.08731	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.81415	-1.49;-1.49	4.66	4.66	0.58398	.	1.043410	0.07617	N	0.926376	T	0.77068	0.4076	L	0.57536	1.79	0.22552	N	0.998998	P	0.44578	0.838	B	0.38562	0.276	T	0.66452	-0.5920	10	0.44086	T	0.13	.	9.1309	0.36843	0.1636:0.0:0.0:0.8364	.	719	Q5K651	SAMD9_HUMAN	P	719	ENSP00000369292:Q719P;ENSP00000414529:Q719P	ENSP00000369292:Q719P	Q	-	2	0	SAMD9	92571191	0.012000	0.17670	0.868000	0.34077	0.851000	0.48451	0.831000	0.27476	1.959000	0.56917	0.496000	0.49642	CAA		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		G	92733255	T	G	92733255	3	3	375	1	0	0	0	0	1	0	0	0	13829	1812	63	5	2617	5	SAMD9	7	92733255	Missense_Mutation	SNP	T	TCGA-36-1570-01A-01W-0615-10		92733255	66405408	11	20572											
PSD3	23362	hgsc.bcm.edu	37	8	18413828	18413828	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr8:18413828T>A	ENST00000327040.8	-	15	2921	c.2819A>T	c.(2818-2820)aAg>aTg	p.K940M	PSD3_ENST00000428502.2_Missense_Mutation_p.K269M|PSD3_ENST00000286485.8_Missense_Mutation_p.K406M|PSD3_ENST00000523619.1_Missense_Mutation_p.K875M|PSD3_ENST00000440756.2_Missense_Mutation_p.K942M	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	941					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.K406M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GGTGATCTGCTTCAGCTTACT	0.463																																																1	Substitution - Missense(1)	ovary(1)	8											184	172	176					8																	18413828		2203	4300	6503	18458108	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2819A>T	8.37:g.18413828T>A	ENSP00000324127:p.Lys940Met		18458108	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336310	0.60963	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.20598	2.71;2.71;2.06;2.7	5.94	4.78	0.61160	.	0.000000	0.51477	U	0.000099	T	0.36663	0.0975	L	0.54323	1.7	0.45914	D	0.99875	P;P;B;D	0.67145	0.797;0.797;0.115;0.996	B;B;B;D	0.64687	0.309;0.309;0.158;0.928	T	0.08513	-1.0718	10	0.62326	D	0.03	.	9.6033	0.39619	0.0:0.0848:0.0:0.9152	.	940;941;406;269	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	M	940;942;162;406;269;875	ENSP00000324127:K940M;ENSP00000401704:K942M;ENSP00000286485:K406M;ENSP00000430640:K875M	ENSP00000286485:K406M	K	-	2	0	PSD3	18458108	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.664000	0.54525	1.070000	0.40811	0.460000	0.39030	AAG		0.463	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		A	18413828	T	A	18413828	3	1	375	1	0	0	0	0	1	0	0	0	12651	1609	56	5	332	5	PSD3	8	18413828	Missense_Mutation	SNP	T	TCGA-36-1570-01A-01W-0615-10		18413828	127950194	12	20573											
RP1	6101	hgsc.bcm.edu	37	8	55541187	55541187	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr8:55541187G>A	ENST00000220676.1	+	4	4893	c.4745G>A	c.(4744-4746)tGc>tAc	p.C1582Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1582					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.C1582Y(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAAAAAAATGCATCAAAAGT	0.408																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	ovary(1)	8											57	58	58					8																	55541187		2203	4300	6503	55703740	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4745G>A	8.37:g.55541187G>A	ENSP00000220676:p.Cys1582Tyr		55703740		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.411418	0.00191	.	.	ENSG00000104237	ENST00000220676	T	0.67345	-0.26	5.74	-0.109	0.13584	.	1.251720	0.05429	N	0.545521	T	0.56062	0.1960	L	0.50333	1.59	0.09310	N	1	B	0.21452	0.056	B	0.17722	0.019	T	0.29058	-1.0024	10	0.19147	T	0.46	10.1173	5.372	0.16144	0.3195:0.2392:0.4413:0.0	.	1582	P56715	RP1_HUMAN	Y	1582	ENSP00000220676:C1582Y	ENSP00000220676:C1582Y	C	+	2	0	RP1	55703740	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	1.499000	0.35671	0.179000	0.19938	0.655000	0.94253	TGC		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55541187	G	A	55541187	3	1	375	1	0	0	0	0	1	0	0	0	13535	1319	46	2	4755	2	RP1	8	55541187	Missense_Mutation	SNP	G	TCGA-36-1570-01A-01W-0615-10	37127359	55541187	90822835	13	20574											
CSMD3	114788	hgsc.bcm.edu	37	8	113266531	113266531	+	Missense_Mutation	SNP	T	T	G	rs376050476		TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr8:113266531T>G	ENST00000297405.5	-	63	10305	c.10061A>C	c.(10060-10062)aAc>aCc	p.N3354T	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3314T|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3185T|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3284T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3354	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N3354T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACCTGGGTTTTCACAAGA	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8						T	THR/ASN,THR/ASN,THR/ASN	0,4406		0,0,2203	189	189	189		9554,10061,9941	5.2	1	8		189	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	65,65,65	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	3185/3539,3354/3708,3314/3668	113266531	1,13005	2203	4300	6503	113335707	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10061A>C	8.37:g.113266531T>G	ENSP00000297405:p.Asn3354Thr		113335707	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.240559	0.58995	0.0	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.22	5.22	0.72569	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	L	0.38692	1.165	0.52099	D	0.999943	D;D;B	0.76494	0.999;0.999;0.178	D;D;B	0.87578	0.972;0.998;0.051	T	0.63625	-0.6595	10	0.16896	T	0.51	.	15.284	0.73814	0.0:0.0:0.0:1.0	.	3185;3354;3314	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3314;3354;2624;3185;3284	ENSP00000345799:N3314T;ENSP00000297405:N3354T;ENSP00000341558:N2624T;ENSP00000412263:N3185T;ENSP00000343124:N3284T	ENSP00000297405:N3354T	N	-	2	0	CSMD3	113335707	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	5.683000	0.68189	2.201000	0.70794	0.533000	0.62120	AAC		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113266531	T	G	113266531	3	3	375	1	0	0	0	0	1	0	0	0	3946	1725	60	5	1098	5	CSMD3	8	113266531	Missense_Mutation	SNP	T	TCGA-36-1570-01A-01W-0615-10	57725344	113266531	33097491	14	20575											
PTPDC1	138639	hgsc.bcm.edu	37	9	96864018	96864018	+	Silent	SNP	T	T	A			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr9:96864018T>A	ENST00000375360.3	+	8	2362	c.2022T>A	c.(2020-2022)ctT>ctA	p.L674L	PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Silent_p.L726L	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	674					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L726L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CAGAAGCACTTTTTTTATTAG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	9											87	88	88					9																	96864018		2203	4300	6503	95903839	SO:0001819	synonymous_variant	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.2022T>A	9.37:g.96864018T>A			95903839	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	CCDS6707.1																																																																																				0.428	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		A	96864018	T	A	96864018	2	1	375	1	0	0	0	0	0	0	0	1	12776	1828	64	5		5	PTPDC1	9	96864018	Silent	SNP	T	TCGA-36-1570-01A-01W-0615-10		96864018	44349413	15	20576											
PKD2L1	9033	hgsc.bcm.edu	37	10	102056812	102056812	+	Silent	SNP	C	C	T			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr10:102056812C>T	ENST00000318222.3	-	6	1492	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	PKD2L1_ENST00000353274.3_Silent_p.E370E|PKD2L1_ENST00000338519.3_Silent_p.E295E	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	370					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.E370E(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCTCCAGGATCTCTTCCACCA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	10											128	113	118					10																	102056812		2203	4300	6503	102046802	SO:0001819	synonymous_variant	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1110G>A	10.37:g.102056812C>T			102046802	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	CCDS7492.1																																																																																				0.507	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		T	102056812	C	T	102056812	2	4	375	1	0	0	0	0	0	0	0	1	11967	912	32	2		2	PKD2L1	10	102056812	Silent	SNP	C	TCGA-36-1570-01A-01W-0615-10		102056812	33477935	16	20577											
CCDC84	338657	hgsc.bcm.edu	37	11	118886093	118886093	+	Silent	SNP	A	A	T			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr11:118886093A>T	ENST00000334418.1	+	10	938	c.882A>T	c.(880-882)gcA>gcT	p.A294A	RPS25_ENST00000528547.1_5'Flank	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	294								p.A294A(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGACCAGTGCAGGCTGGCTGC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	11											40	42	42					11																	118886093		2200	4294	6494	118391303	SO:0001819	synonymous_variant	338657			AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.882A>T	11.37:g.118886093A>T			118391303		Silent	SNP	ENST00000334418.1	37	CCDS8405.1																																																																																				0.532	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489		T	118886093	A	T	118886093	2	4	375	1	0	0	0	0	0	0	0	1	2858	175	7	5		5	CCDC84	11	118886093	Silent	SNP	A	TCGA-36-1570-01A-01W-0615-10		118886093	16120423	17	20578											
PTPRR	5801	hgsc.bcm.edu	37	12	71054865	71054865	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr12:71054865T>C	ENST00000283228.2	-	12	2073	c.1621A>G	c.(1621-1623)Acc>Gcc	p.T541A	PTPRR_ENST00000440835.2_Missense_Mutation_p.T296A|PTPRR_ENST00000342084.4_Missense_Mutation_p.T429A|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000549308.1_Missense_Mutation_p.T296A|PTPRR_ENST00000378778.1_Missense_Mutation_p.T335A	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	541	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T541A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACATGTTGGGTGTGGCTTCCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	12											140	93	109					12																	71054865		2203	4300	6503	69341132	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1621A>G	12.37:g.71054865T>C	ENSP00000283228:p.Thr541Ala		69341132	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761308	0.31137	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.02	3.78	0.43462	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.129193	0.34291	N	0.004087	T	0.73094	0.3543	L	0.39566	1.225	0.37487	D	0.916217	B;B;B	0.16603	0.008;0.008;0.018	B;B;B	0.22152	0.013;0.013;0.038	T	0.68119	-0.5493	10	0.21014	T	0.42	-13.2243	8.3751	0.32438	0.3564:0.0:0.0:0.6436	.	429;335;541	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	A	296;541;335;429;296	ENSP00000391750:T296A;ENSP00000283228:T541A;ENSP00000368054:T335A;ENSP00000339605:T429A;ENSP00000446943:T296A	ENSP00000283228:T541A	T	-	1	0	PTPRR	69341132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.214000	0.58527	2.011000	0.59026	0.528000	0.53228	ACC		0.468	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		C	71054865	T	C	71054865	3	2	375	1	0	0	0	0	1	0	0	0	12813	1696	59	4	364	4	PTPRR	12	71054865	Missense_Mutation	SNP	T	TCGA-36-1570-01A-01W-0615-10		71054865	62797030	18	20579											
RNF10	9921	hgsc.bcm.edu	37	12	121004651	121004651	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr12:121004651G>A	ENST00000325954.4	+	13	2370	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K	RNF10_ENST00000413266.2_Missense_Mutation_p.E642K	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	637					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E637K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTCCCCTCGAGAATCTACA	0.453																																																1	Substitution - Missense(1)	ovary(1)	12											109	108	108					12																	121004651		2203	4300	6503	119489034	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1909G>A	12.37:g.121004651G>A	ENSP00000322242:p.Glu637Lys		119489034	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326520	0.95708	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.78	5.78	0.91487	.	0.048945	0.85682	D	0.000000	T	0.48926	0.1527	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.68765	0.96;0.854	T	0.30736	-0.9968	10	0.10902	T	0.67	.	20.0096	0.97446	0.0:0.0:1.0:0.0	.	642;637	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	K	637;637;642;85;181	ENSP00000322242:E637K;ENSP00000415682:E642K;ENSP00000439221:E85K;ENSP00000439859:E181K	ENSP00000322242:E637K	E	+	1	0	RNF10	119489034	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	8.396000	0.90190	2.727000	0.93392	0.579000	0.79373	GAG		0.453	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			A	121004651	G	A	121004651	3	1	375	1	0	0	0	0	1	0	0	0	13425	1059	37	1	1959	1	RNF10	12	121004651	Missense_Mutation	SNP	G	TCGA-36-1570-01A-01W-0615-10	49949786	121004651	12847244	19	20580											
DUOX1	53905	hgsc.bcm.edu	37	15	45434297	45434297	+	Silent	SNP	T	T	C			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr15:45434297T>C	ENST00000321429.4	+	16	2216	c.1809T>C	c.(1807-1809)tgT>tgC	p.C603C	DUOX1_ENST00000389037.3_Silent_p.C603C|DUOX1_ENST00000561166.1_Silent_p.C249C	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	603					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.C603C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GGACCCTCTGTTGCTTCCCTT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	15											115	110	112					15																	45434297		2198	4298	6496	43221589	SO:0001819	synonymous_variant	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1809T>C	15.37:g.45434297T>C			43221589	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																				0.542	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		C	45434297	T	C	45434297	2	2	375	1	0	0	0	0	0	0	0	1	4800	1731	60	4		4	DUOX1	15	45434297	Silent	SNP	T	TCGA-36-1570-01A-01W-0615-10		45434297	57097095	20	20581											
SLC27A2	11001	hgsc.bcm.edu	37	15	50489742	50489742	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr15:50489742A>G	ENST00000267842.5	+	2	756	c.524A>G	c.(523-525)gAt>gGt	p.D175G	SLC27A2_ENST00000380902.4_Missense_Mutation_p.D175G|SLC27A2_ENST00000544960.1_5'UTR	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	175					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D175G(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTTAAAAAAGATGATGTGTCC	0.353																																																1	Substitution - Missense(1)	ovary(1)	15											99	93	95					15																	50489742		2196	4295	6491	48277034	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.524A>G	15.37:g.50489742A>G	ENSP00000267842:p.Asp175Gly		48277034	A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197523	0.38806	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.48522	0.81;0.81	5.47	5.47	0.80525	AMP-dependent synthetase/ligase (1);	0.358840	0.32301	N	0.006287	T	0.35653	0.0939	N	0.25957	0.775	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.18561	0.008;0.022	T	0.12477	-1.0546	10	0.27785	T	0.31	.	13.4763	0.61310	1.0:0.0:0.0:0.0	.	175;175	Q6PF09;O14975	.;S27A2_HUMAN	G	175	ENSP00000370289:D175G;ENSP00000267842:D175G	ENSP00000267842:D175G	D	+	2	0	SLC27A2	48277034	1.000000	0.71417	0.890000	0.34922	0.994000	0.84299	4.207000	0.58480	2.072000	0.62099	0.496000	0.49642	GAT		0.353	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		G	50489742	A	G	50489742	3	3	375	1	0	0	0	0	1	0	0	0	14529	333	12	4	530	4	SLC27A2	15	50489742	Missense_Mutation	SNP	A	TCGA-36-1570-01A-01W-0615-10	5055445	50489742	52041650	21	20582											
GP2	2813	hgsc.bcm.edu	37	16	20335530	20335530	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr16:20335530C>G	ENST00000381362.4	-	3	219	c.143G>C	c.(142-144)tGc>tCc	p.C48S	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.C48S|GP2_ENST00000381360.5_Intron	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	48					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.C48S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAGCTCCGCAGTCCAGGTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											48	46	47					16																	20335530		2203	4300	6503	20243031	SO:0001583	missense	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.143G>C	16.37:g.20335530C>G	ENSP00000370767:p.Cys48Ser		20243031	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470952	0.43942	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99537	-6.11;-6.11	4.44	4.44	0.53790	.	.	.	.	.	D	0.99480	0.9815	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.87578	0.998;0.849	D	0.98143	1.0437	9	0.72032	D	0.01	-7.7968	14.6232	0.68602	0.0:1.0:0.0:0.0	.	48;48	P55259-3;P55259	.;GP2_HUMAN	S	48	ENSP00000304044:C48S;ENSP00000370767:C48S	ENSP00000304044:C48S	C	-	2	0	GP2	20243031	0.964000	0.33143	0.030000	0.17652	0.004000	0.04260	4.416000	0.59815	2.276000	0.75962	0.609000	0.83330	TGC		0.542	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		G	20335530	C	G	20335530	3	3	375	1	0	0	0	0	1	0	0	0	6582	710	25	3	1510	3	GP2	16	20335530	Missense_Mutation	SNP	C	TCGA-36-1570-01A-01W-0615-10		20335530	70019223	22	20583											
TP53	7157	hgsc.bcm.edu	37	17	7577538	7577539	+	Frame_Shift_Ins	INS	-	-	G	rs11540652|rs121912651|rs397516437		TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr17:7577538_7577539insG	ENST00000269305.4	-	7	931_932	c.742_743insC	c.(742-744)cggfs	p.R248fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.R248fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R248fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.R248fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R248fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R248fs	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248W(544)|p.R248L(75)|p.R155W(28)|p.R248P(19)|p.R155Q(18)|p.R248G(12)|p.0?(8)|p.?(5)|p.R155L(3)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248R(2)|p.R248fs*97(2)|p.R248fs*16(2)|p.N247_P250delNRRP(1)|p.unknown(1)|p.R248fs*>39(1)|p.R249fs*96(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R248C(1)|p.N247_R248>IP(1)|p.G245fs*14(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)	GATGGGCCTCCGGTTCATGCCG	0.574	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"	1315	Substitution - Missense(1282)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(293)|breast(154)|haematopoietic_and_lymphoid_tissue(110)|lung(96)|upper_aerodigestive_tract(87)|central_nervous_system(78)|oesophagus(75)|ovary(73)|endometrium(61)|stomach(61)|urinary_tract(55)|skin(54)|biliary_tract(21)|prostate(21)|pancreas(18)|liver(13)|bone(12)|soft_tissue(7)|thyroid(6)|vulva(4)|kidney(4)|cervix(4)|peritoneum(2)|penis(2)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM010465|CM900211|CM920675	TP53	M	rs11540652|rs121912651																																			7518264	SO:0001589	frameshift_variant	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.743dupC	17.37:g.7577540_7577540dupG	ENSP00000269305:p.Arg248fs		7518263	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577539	-	G	7577538	7	5	375	1	0	1	1	0	0	0	0	0	16381	652	23	0	547	0	TP53	17	7577538	Frame_Shift_Ins	INS	-	TCGA-36-1570-01A-01W-0615-10		7577538	73617672	23	20584											
MYH1	4619	hgsc.bcm.edu	37	17	10398580	10398580	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr17:10398580G>T	ENST00000226207.5	-	36	5318	c.5224C>A	c.(5224-5226)Cag>Aag	p.Q1742K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1742					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1742K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATCTCTCCCTGGATTTGGGAA	0.448																																																1	Substitution - Missense(1)	ovary(1)	17											232	199	210					17																	10398580		2203	4300	6503	10339305	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5224C>A	17.37:g.10398580G>T	ENSP00000226207:p.Gln1742Lys		10339305	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994603	0.93167	.	.	ENSG00000109061	ENST00000226207	T	0.77489	-1.1	5.28	5.28	0.74379	Myosin tail (1);	0.000000	0.41194	U	0.000936	D	0.84538	0.5494	M	0.86651	2.83	0.58432	D	0.999998	B	0.27951	0.195	B	0.36922	0.236	D	0.84217	0.0459	10	0.54805	T	0.06	.	19.2728	0.94018	0.0:0.0:1.0:0.0	.	1742	P12882	MYH1_HUMAN	K	1742	ENSP00000226207:Q1742K	ENSP00000226207:Q1742K	Q	-	1	0	MYH1	10339305	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.600000	0.98282	2.618000	0.88619	0.561000	0.74099	CAG		0.448	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10398580	G	T	10398580	3	4	375	1	0	0	0	0	1	0	0	0	10029	1357	47	3	615	3	MYH1	17	10398580	Missense_Mutation	SNP	G	TCGA-36-1570-01A-01W-0615-10	2821042	10398580	70796630	24	20585											
BST2	684	hgsc.bcm.edu	37	19	17516374	17516374	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chr19:17516374G>A	ENST00000252593.6	-	1	83	c.11C>T	c.(10-12)aCt>aTt	p.T4I	BST2_ENST00000527220.1_5'Flank|CTD-2521M24.9_ENST00000500836.2_lincRNA	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	4					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.T4I(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						GTCATACGAAGTAGATGCCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	19											104	90	95					19																	17516374		2203	4300	6503	17377374	SO:0001583	missense	684				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"CD molecules"	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.11C>T	19.37:g.17516374G>A	ENSP00000252593:p.Thr4Ile		17377374	A8K4Y4|Q53G07	Missense_Mutation	SNP	ENST00000252593.6	37	CCDS12358.1	.	.	.	.	.	.	.	.	.	.	G	4.885	0.164442	0.09287	.	.	ENSG00000130303	ENST00000416178;ENST00000252593	T	0.53857	0.6	2.89	0.649	0.17806	.	0.906609	0.08949	N	0.870446	T	0.37945	0.1022	L	0.34521	1.04	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.26360	-1.0105	10	0.25751	T	0.34	-2.2742	6.5432	0.22392	0.1188:0.1827:0.6984:0.0	.	4	Q10589	BST2_HUMAN	I	4	ENSP00000252593:T4I	ENSP00000252593:T4I	T	-	2	0	BST2	17377374	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.127000	0.31357	-0.009000	0.14296	-1.579000	0.00862	ACT		0.517	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	NM_004335		A	17516374	G	A	17516374	3	1	375	1	0	0	0	0	1	0	0	0	1534	1029	36	2	547	2	BST2	19	17516374	Missense_Mutation	SNP	G	TCGA-36-1570-01A-01W-0615-10		17516374	41612609	25	20586											
ACE2	59272	hgsc.bcm.edu	37	X	15585936	15585936	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chrX:15585936T>A	ENST00000252519.3	-	15	2012	c.1910A>T	c.(1909-1911)gAc>gTc	p.D637V	ACE2_ENST00000471548.1_5'Flank|ACE2_ENST00000427411.1_Missense_Mutation_p.D637V			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	637					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.D637V(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CATTTCATTGTCGTTCCATTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	X											87	80	82					X																	15585936		2203	4300	6503	15495857	SO:0001583	missense	59272			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1910A>T	X.37:g.15585936T>A	ENSP00000252519:p.Asp637Val		15495857	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	T	8.726	0.915595	0.17907	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.87809	-2.3;-2.3	5.5	5.5	0.81552	.	0.431501	0.25854	N	0.027862	D	0.87861	0.6284	M	0.80183	2.485	0.42253	D	0.991987	P	0.34587	0.458	B	0.38378	0.272	D	0.87784	0.2614	10	0.56958	D	0.05	-13.8357	10.244	0.43330	0.0:0.0:0.2964:0.7036	.	637	Q9BYF1	ACE2_HUMAN	V	637	ENSP00000252519:D637V;ENSP00000389326:D637V	ENSP00000252519:D637V	D	-	2	0	ACE2	15495857	0.560000	0.26570	0.953000	0.39169	0.046000	0.14306	0.100000	0.15231	1.830000	0.53286	0.417000	0.27973	GAC		0.343	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			A	15585936	T	A	15585936	3	1	375	1	0	0	0	0	1	0	0	0	137	1667	58	5	523	5	ACE2	23	15585936	Missense_Mutation	SNP	T	TCGA-36-1570-01A-01W-0615-10		15585936	139684624	26	20587											
ZNF41	7592	hgsc.bcm.edu	37	X	47308223	47308223	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chrX:47308223C>T	ENST00000377065.4	-	5	1585	c.946G>A	c.(946-948)Gta>Ata	p.V316I	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000313116.7_Missense_Mutation_p.V316I|ZNF41_ENST00000397050.2_Missense_Mutation_p.V326I	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	358					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.V316I(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTTGGATGTACATCAACCTGG	0.403																																																1	Substitution - Missense(1)	ovary(1)	X											72	69	70					X																	47308223		2203	4298	6501	47193167	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.946G>A	X.37:g.47308223C>T	ENSP00000366265:p.Val316Ile		47193167	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	3.086	-0.187925	0.06299	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.07688	3.17;3.17;3.17	3.32	-1.67	0.08238	Zinc finger, C2H2 (1);	1.560110	0.04557	N	0.390978	T	0.06188	0.0160	L	0.35542	1.07	0.09310	N	1	B;B;B;B;B	0.23377	0.0;0.0;0.084;0.0;0.0	B;B;B;B;B	0.21917	0.001;0.001;0.037;0.0;0.001	T	0.38887	-0.9640	10	0.35671	T	0.21	.	1.0763	0.01633	0.158:0.2669:0.154:0.4211	.	316;318;326;350;358	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	I	316;316;326	ENSP00000315173:V316I;ENSP00000366265:V316I;ENSP00000380243:V326I	ENSP00000315173:V316I	V	-	1	0	ZNF41	47193167	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.162000	0.01277	-0.607000	0.05738	-0.931000	0.02705	GTA		0.403	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		T	47308223	C	T	47308223	3	4	375	1	0	0	0	0	1	0	0	0	17889	478	17	2	1397	2	ZNF41	23	47308223	Missense_Mutation	SNP	C	TCGA-36-1570-01A-01W-0615-10	31722287	47308223	107962337	27	20588											
AMOT	154796	hgsc.bcm.edu	37	X	112021863	112021863	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1570-01A-01W-0615-10	TCGA-36-1570-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	2cfd1fbf-a67e-4509-b2aa-728c1640290d	4244107e-0a86-4c4c-b30e-8871db9ff5ca	g.chrX:112021863C>G	ENST00000524145.1	-	12	3261	c.3187G>C	c.(3187-3189)Gaa>Caa	p.E1063Q	AMOT_ENST00000304758.1_Missense_Mutation_p.E654Q|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Missense_Mutation_p.E831Q|AMOT_ENST00000371959.3_Missense_Mutation_p.E1063Q			Q4VCS5	AMOT_HUMAN	angiomotin	1063					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.E654Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTTTTTCTTTCCAGAGTATTG	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											198	182	187					X																	112021863		2203	4300	6503	111908519	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3187G>C	X.37:g.112021863C>G	ENSP00000429013:p.Glu1063Gln		111908519	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433613	0.62955	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.28895	1.59;1.65;1.89;1.65	6.01	6.01	0.97437	.	0.063074	0.64402	N	0.000019	T	0.36138	0.0956	N	0.19112	0.55	0.41368	D	0.987474	D	0.71674	0.998	P	0.59761	0.863	T	0.07366	-1.0776	10	0.15499	T	0.54	-2.7642	18.235	0.89947	0.0:1.0:0.0:0.0	.	1063	Q4VCS5	AMOT_HUMAN	Q	654;1063;831;1063	ENSP00000305557:E654Q;ENSP00000361027:E1063Q;ENSP00000361030:E831Q;ENSP00000429013:E1063Q	ENSP00000305557:E654Q	E	-	1	0	AMOT	111908519	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.725000	0.74752	2.531000	0.85337	0.600000	0.82982	GAA		0.423	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		G	112021863	C	G	112021863	3	3	375	1	0	0	0	0	1	0	0	0	582	864	30	3	71	3	AMOT	23	112021863	Missense_Mutation	SNP	C	TCGA-36-1570-01A-01W-0615-10	64713640	112021863	43248697	28	20589											
TRAF5	7188	hgsc.bcm.edu	37	1	211533308	211533308	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr1:211533308C>G	ENST00000261464.5	+	5	487	c.433C>G	c.(433-435)Cgg>Ggg	p.R145G	TRAF5_ENST00000367004.3_Missense_Mutation_p.R145G|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Missense_Mutation_p.R145G	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	145					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R145G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGAGAAGTGCCGGGAGCCAGT	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											130	123	126					1																	211533308		2203	4300	6503	209599931	SO:0001583	missense	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.433C>G	1.37:g.211533308C>G	ENSP00000261464:p.Arg145Gly		209599931	B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	3.891	-0.023899	0.07634	.	.	ENSG00000082512	ENST00000336184;ENST00000261464;ENST00000367004	T;T;T	0.22134	1.97;1.97;1.97	4.97	2.02	0.26589	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);	2.490430	0.01085	N	0.005073	T	0.09555	0.0235	N	0.01522	-0.82	0.21527	N	0.99965	B;B	0.22683	0.044;0.073	B;B	0.28232	0.087;0.08	T	0.30822	-0.9965	10	0.17832	T	0.49	-19.8123	6.432	0.21803	0.0:0.5934:0.1269:0.2796	.	156;145	B4E0A2;O00463	.;TRAF5_HUMAN	G	145	ENSP00000336825:R145G;ENSP00000261464:R145G;ENSP00000355971:R145G	ENSP00000261464:R145G	R	+	1	2	TRAF5	209599931	0.040000	0.19996	0.012000	0.15200	0.044000	0.14063	0.443000	0.21644	0.135000	0.18707	-0.218000	0.12543	CGG		0.478	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		G	211533308	C	G	211533308	3	3	376	1	0	0	0	0	1	0	0	0	16444	643	23	3	447	3	TRAF5	1	211533308	Missense_Mutation	SNP	C	TCGA-36-1571-01A-01W-0615-10		211533308	37717313	1	20590											
UBQLN3	50613	hgsc.bcm.edu	37	11	5528898	5528898	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr11:5528898G>C	ENST00000311659.4	-	2	2038	c.1891C>G	c.(1891-1893)Cgt>Ggt	p.R631G	HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	631	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.							p.R631G(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGCTTCACGATTCAGAAAG	0.522																																					Ovarian(72;684 1260 12332 41642 52180)											1	Substitution - Missense(1)	ovary(1)	11											77	79	79					11																	5528898		2201	4297	6498	5485474	SO:0001583	missense	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1891C>G	11.37:g.5528898G>C	ENSP00000347997:p.Arg631Gly		5485474	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814352	0.32053	.	.	ENSG00000175520	ENST00000311659	T	0.21932	1.98	5.14	3.22	0.36961	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.596206	0.15026	N	0.284721	T	0.28300	0.0699	M	0.84846	2.72	0.27814	N	0.942043	B	0.28971	0.229	B	0.29942	0.109	T	0.18650	-1.0330	10	0.46703	T	0.11	0.1964	7.9766	0.30159	0.0844:0.0:0.7557:0.1599	.	631	Q9H347	UBQL3_HUMAN	G	631	ENSP00000347997:R631G	ENSP00000347997:R631G	R	-	1	0	UBQLN3	5485474	1.000000	0.71417	0.694000	0.30210	0.964000	0.63967	3.460000	0.53028	0.826000	0.34661	0.655000	0.94253	CGT		0.522	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		C	5528898	G	C	5528898	3	2	376	1	0	0	0	0	1	0	0	0	16898	1058	37	3	80	3	UBQLN3	11	5528898	Missense_Mutation	SNP	G	TCGA-36-1571-01A-01W-0615-10		5528898	129477618	2	20591											
LRRK2	120892	hgsc.bcm.edu	37	12	40699634	40699634	+	Silent	SNP	C	C	G			TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr12:40699634C>G	ENST00000298910.7	+	28	3883	c.3825C>G	c.(3823-3825)gtC>gtG	p.V1275V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1275					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.V1275V(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCTGGATGTCAGTTACAACT	0.383																																																4	Substitution - coding silent(4)	ovary(2)|large_intestine(2)	12											90	88	89					12																	40699634		2203	4300	6503	38985901	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3825C>G	12.37:g.40699634C>G			38985901	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.383	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40699634	C	G	40699634	2	3	376	1	0	0	0	0	0	0	0	1	9033	813	29	3		3	LRRK2	12	40699634	Silent	SNP	C	TCGA-36-1571-01A-01W-0615-10		40699634	93152261	3	20592											
STAC3	246329	hgsc.bcm.edu	37	12	57643044	57643044	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr12:57643044C>A	ENST00000332782.2	-	3	315	c.114G>T	c.(112-114)aaG>aaT	p.K38N	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_De_novo_Start_OutOfFrame	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	38					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.K38N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GTTCCATCTCCTTTGTCCCTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	12											67	64	65					12																	57643044		2203	4300	6503	55929311	SO:0001583	missense	246329			AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.114G>T	12.37:g.57643044C>A	ENSP00000329200:p.Lys38Asn		55929311	B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392486	0.25118	.	.	ENSG00000185482	ENST00000332782;ENST00000553489	D;D	0.95035	-1.61;-3.59	5.58	-0.585	0.11698	.	0.275866	0.26418	N	0.024496	D	0.83059	0.5172	N	0.14661	0.345	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.64668	-0.6353	10	0.16420	T	0.52	-0.9746	2.6156	0.04902	0.1172:0.5008:0.1138:0.2682	.	38	Q96MF2	STAC3_HUMAN	N	38	ENSP00000329200:K38N;ENSP00000452299:K38N	ENSP00000329200:K38N	K	-	3	2	STAC3	55929311	0.997000	0.39634	0.935000	0.37517	0.167000	0.22549	0.380000	0.20602	-0.305000	0.08831	-0.137000	0.14449	AAG		0.537	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		A	57643044	C	A	57643044	3	1	376	1	0	0	0	0	1	0	0	0	15243	680	24	3	1020	3	STAC3	12	57643044	Missense_Mutation	SNP	C	TCGA-36-1571-01A-01W-0615-10	16943410	57643044	76208851	4	20593											
MKRN3	7681	hgsc.bcm.edu	37	15	23811187	23811187	+	Silent	SNP	G	G	A			TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr15:23811187G>A	ENST00000314520.3	+	1	734	c.258G>A	c.(256-258)ccG>ccA	p.P86P	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Silent_p.P86P|MKRN3_ENST00000564592.1_Silent_p.P86P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	86					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P86P(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCCCAGTCCGTTGCCAAGCC	0.627																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	15											39	38	38					15																	23811187		2203	4300	6503	21362280	SO:0001819	synonymous_variant	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.258G>A	15.37:g.23811187G>A			21362280		Silent	SNP	ENST00000314520.3	37	CCDS10013.1																																																																																				0.627	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		A	23811187	G	A	23811187	2	1	376	1	0	0	0	0	0	0	0	1	9608	1132	40	1		1	MKRN3	15	23811187	Silent	SNP	G	TCGA-36-1571-01A-01W-0615-10		23811187	78720205	5	20594											
PYGO1	26108	hgsc.bcm.edu	37	15	55841125	55841125	+	Missense_Mutation	SNP	G	G	A	rs147959519		TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr15:55841125G>A	ENST00000302000.6	-	2	212	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	PYGO1_ENST00000563719.1_Missense_Mutation_p.R40C	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	40					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R40C(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTGCCTTGCGCTTTTTCTTA	0.373																																																1	Substitution - Missense(1)	ovary(1)	15						G	CYS/ARG	1,4385	2.1+/-5.4	0,1,2192	157	153	155		118	4.2	1	15	dbSNP_134	155	0,8584		0,0,4292	no	missense	PYGO1	NM_015617.1	180	0,1,6484	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	40/420	55841125	1,12969	2193	4292	6485	53628417	SO:0001583	missense	26108			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.118C>T	15.37:g.55841125G>A	ENSP00000302327:p.Arg40Cys		53628417	A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920050	0.73098	2.28E-4	0.0	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.67698	-0.28	5.16	4.19	0.49359	.	0.229367	0.36234	N	0.002702	T	0.63873	0.2548	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;P	0.50082	0.63;0.63	T	0.68383	-0.5423	10	0.72032	D	0.01	-7.5893	13.0829	0.59123	0.0:0.0:0.8409:0.1591	.	40;40	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	C	40	ENSP00000302327:R40C	ENSP00000302327:R40C	R	-	1	0	PYGO1	53628417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.727000	0.61993	2.555000	0.86185	0.655000	0.94253	CGC		0.373	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		A	55841125	G	A	55841125	3	1	376	1	0	0	0	0	1	0	0	0	12866	1087	38	1	1149	1	PYGO1	15	55841125	Missense_Mutation	SNP	G	TCGA-36-1571-01A-01W-0615-10	32029938	55841125	46690267	6	20595											
CLCN7	1186	hgsc.bcm.edu	37	16	1515271	1515271	+	Silent	SNP	G	G	A			TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr16:1515271G>A	ENST00000382745.4	-	2	815	c.210C>T	c.(208-210)gaC>gaT	p.D70D	LA16c-390E6.3_ENST00000563223.1_RNA|CLCN7_ENST00000448525.1_Intron|CLCN7_ENST00000566812.1_5'Flank|CLCN7_ENST00000262318.8_Intron	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	70					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.D70D(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AACTCACCGGGTCCAAAAGTT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	16											118	80	93					16																	1515271		2199	4300	6499	1455272	SO:0001819	synonymous_variant	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.210C>T	16.37:g.1515271G>A			1455272	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																				0.582	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		A	1515271	G	A	1515271	2	1	376	1	0	0	0	0	0	0	0	1	3468	1252	44	2		2	CLCN7	16	1515271	Silent	SNP	G	TCGA-36-1571-01A-01W-0615-10		1515271	88839482	7	20596											
TP53	7157	hgsc.bcm.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)	ATCTCGAAGCGCTCACGCCCA	0.522		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"	31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(1)	17	GRCh37	CM981929	TP53	M							56	44	48					17																	7574018		2203	4300	6503	7514743	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.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys		7514743	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	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7574018	G	A	7574018	3	1	376	1	0	0	0	0	1	0	0	0	16381	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-36-1571-01A-01W-0615-10		7574018	73621192	8	20597											
CYTH2	9266	hgsc.bcm.edu	37	19	48977465	48977465	+	Missense_Mutation	SNP	G	G	A	rs141113238		TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr19:48977465G>A	ENST00000452733.2	+	7	1050	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	CYTH2_ENST00000427476.1_Missense_Mutation_p.V192I			Q99418	CYH2_HUMAN	cytohesin 2	192	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)	p.V192I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCCTTCGCCGTCATCATGCT	0.632																																																1	Substitution - Missense(1)	ovary(1)	19						G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123	97	106		574,574	4.1	1	19	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYTH2	NM_004228.6,NM_017457.5	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	192/400,192/401	48977465	1,13005	2203	4300	6503	53669277	SO:0001583	missense	9266			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.574G>A	19.37:g.48977465G>A	ENSP00000408236:p.Val192Ile		53669277	A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	G	5.642	0.303105	0.10678	0.0	1.16E-4	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.43688	0.94;0.94;0.94	4.06	4.06	0.47325	.	0.064561	0.64402	D	0.000010	T	0.16471	0.0396	N	0.02266	-0.62	0.44547	D	0.997506	B	0.09022	0.002	B	0.06405	0.002	T	0.16364	-1.0405	10	0.02654	T	1	.	14.1425	0.65329	0.0:0.0:1.0:0.0	.	192	Q99418-2	.	I	192;192;214	ENSP00000408236:V192I;ENSP00000391648:V192I;ENSP00000314566:V214I	ENSP00000314566:V214I	V	+	1	0	CYTH2	53669277	1.000000	0.71417	0.969000	0.41365	0.840000	0.47671	3.470000	0.53100	2.268000	0.75426	0.561000	0.74099	GTC		0.632	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		A	48977465	G	A	48977465	3	1	376	1	0	0	0	0	1	0	0	0	4204	1145	40	1	600	1	CYTH2	19	48977465	Missense_Mutation	SNP	G	TCGA-36-1571-01A-01W-0615-10		48977465	10151518	9	20598											
DNMT3B	1789	hgsc.bcm.edu	37	20	31383297	31383297	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr20:31383297C>G	ENST00000328111.2	+	11	1530	c.1209C>G	c.(1207-1209)tgC>tgG	p.C403W	DNMT3B_ENST00000201963.3_Missense_Mutation_p.C395W|DNMT3B_ENST00000375623.4_Missense_Mutation_p.A293G|DNMT3B_ENST00000443239.3_Missense_Mutation_p.C341W|DNMT3B_ENST00000456297.2_Missense_Mutation_p.C307W|DNMT3B_ENST00000353855.2_Missense_Mutation_p.C383W|DNMT3B_ENST00000344505.4_Missense_Mutation_p.C383W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.C383W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	403					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.C403W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACAAATTGCTATAACAACG	0.532																																																1	Substitution - Missense(1)	ovary(1)	20											110	126	121					20																	31383297		2203	4300	6503	30846958	SO:0001583	missense	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1209C>G	20.37:g.31383297C>G	ENSP00000328547:p.Cys403Trp		30846958	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.197834|3.197834	0.58126|0.58126	.|.	.|.	ENSG00000088305|ENSG00000088305	ENST00000375623|ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T|D;D;D;D;D;D;D	0.67865|0.96856	-0.29|-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	5.29|5.29	-3.11|-3.11	0.05299|0.05299	.|.	.|0.341423	.|0.35708	.|N	.|0.003029	D|D	0.94006|0.94006	0.8080|0.8080	L|L	0.40543|0.40543	1.245|1.245	0.25501|0.25501	N|N	0.987557|0.987557	.|P;P;P;P;P;P;P	.|0.47409	.|0.704;0.704;0.483;0.804;0.617;0.804;0.895	.|P;B;P;P;P;P;P	.|0.54460	.|0.497;0.353;0.447;0.753;0.482;0.753;0.502	D|D	0.88674|0.88674	0.3197|0.3197	7|10	0.62326|0.66056	D|D	0.03|0.02	-17.5743|-17.5743	6.6819|6.6819	0.23125|0.23125	0.0:0.3861:0.1245:0.4894|0.0:0.3861:0.1245:0.4894	.|.	.|307;341;102;395;383;383;403	.|E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.|.;.;.;.;.;.;DNM3B_HUMAN	G|W	293|403;469;383;383;341;307;383;395	ENSP00000364774:A293G|ENSP00000328547:C403W;ENSP00000313397:C383W;ENSP00000337764:C383W;ENSP00000403169:C341W;ENSP00000412305:C307W;ENSP00000345105:C383W;ENSP00000201963:C395W	ENSP00000364774:A293G|ENSP00000201963:C395W	A|C	+|+	2|3	0|2	DNMT3B|DNMT3B	30846958|30846958	0.002000|0.002000	0.14202|0.14202	0.837000|0.837000	0.33122|0.33122	0.655000|0.655000	0.38815|0.38815	-0.494000|-0.494000	0.06451|0.06451	-0.149000|-0.149000	0.11215|0.11215	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.532	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		G	31383297	C	G	31383297	3	3	376	1	0	0	0	0	1	0	0	0	4677	805	28	3	1287	3	DNMT3B	20	31383297	Missense_Mutation	SNP	C	TCGA-36-1571-01A-01W-0615-10		31383297	31642223	10	20599											
BPI	671	hgsc.bcm.edu	37	20	36936066	36936066	+	Silent	SNP	G	G	A			TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr20:36936066G>A	ENST00000262865.4	+	2	329	c.240G>A	c.(238-240)ggG>ggA	p.G80G	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	80					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.G80G(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TTGGGAAGGGGCATTATAGCT	0.517																																																1	Substitution - coding silent(1)	ovary(1)	20											107	101	103					20																	36936066		2203	4300	6503	36369480	SO:0001819	synonymous_variant	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.240G>A	20.37:g.36936066G>A			36369480	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	CCDS13303.1																																																																																				0.517	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		A	36936066	G	A	36936066	2	1	376	1	0	0	0	0	0	0	0	1	1490	1190	42	2		2	BPI	20	36936066	Silent	SNP	G	TCGA-36-1571-01A-01W-0615-10	5552769	36936066	26089454	11	20600											
SMARCB1	6598	hgsc.bcm.edu	37	22	24175888	24175888	+	Silent	SNP	G	G	A	rs117084604	byFrequency	TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chr22:24175888G>A	ENST00000263121.7	+	8	1312	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	SMARCB1_ENST00000407422.3_Silent_p.T363T|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Silent_p.T326T|SMARCB1_ENST00000344921.6_Silent_p.T381T	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	372					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.T372T(2)|p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACAGGAACACGAGGTACCCCT	0.627			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							G|||	5	0.000998403	0	0	5008	,	,		19506	0.005		0	False		,,,				2504	0					yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	5	Unknown(2)|Substitution - coding silent(2)|Deletion - In frame(1)	central_nervous_system(3)|ovary(1)|soft_tissue(1)	22						G	,	0,4406		0,0,2203	106	91	96		1089,1116	-5.1	1	22	dbSNP_132	96	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SMARCB1	NM_001007468.1,NM_003073.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	363/377,372/386	24175888	2,13004	2203	4300	6503	22505888	SO:0001819	synonymous_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1116G>A	22.37:g.24175888G>A			22505888	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	CCDS13817.1																																																																																				0.627	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		A	24175888	G	A	24175888	2	1	376	1	0	0	0	0	0	0	0	1	14777	1045	37	1		1	SMARCB1	22	24175888	Silent	SNP	G	TCGA-36-1571-01A-01W-0615-10		24175888	27128678	12	20601											
USP11	8237	hgsc.bcm.edu	37	X	47098492	47098492	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1571-01A-01W-0615-10	TCGA-36-1571-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	b230e75f-d83e-4e92-b723-5cbfbe2a8795	e692da33-2121-4f4e-9382-7e0c3895589b	g.chrX:47098492A>G	ENST00000218348.3	+	2	329	c.329A>G	c.(328-330)tAt>tGt	p.Y110C	USP11_ENST00000377107.2_Missense_Mutation_p.Y67C	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	110	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.Y110C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AAGCACTGGTATAAGCAGTGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	X											71	49	56					X																	47098492		2203	4300	6503	46983436	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.329A>G	X.37:g.47098492A>G	ENSP00000218348:p.Tyr110Cys		46983436	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.450940	0.63290	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.23950	1.88;1.88	5.95	5.95	0.96441	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.076031	0.53938	D	0.000046	T	0.49762	0.1576	M	0.79258	2.445	0.47308	D	0.999385	D	0.89917	1.0	D	0.79784	0.993	T	0.54807	-0.8238	10	0.87932	D	0	-18.2344	9.6192	0.39710	0.8419:0.0:0.0:0.1581	.	110	P51784	UBP11_HUMAN	C	67;110	ENSP00000366311:Y67C;ENSP00000218348:Y110C	ENSP00000218348:Y110C	Y	+	2	0	USP11	46983436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.567000	0.36407	1.999000	0.58509	0.486000	0.48141	TAT		0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		G	47098492	A	G	47098492	3	3	376	1	0	0	0	0	1	0	0	0	17042	449	16	4	335	4	USP11	23	47098492	Missense_Mutation	SNP	A	TCGA-36-1571-01A-01W-0615-10		47098492	108172068	13	20602											
MACF1	23499	hgsc.bcm.edu	37	1	39853297	39853297	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr1:39853297A>G	ENST00000372915.3	+	57	14885	c.14798A>G	c.(14797-14799)gAg>gGg	p.E4933G	MACF1_ENST00000361689.2_Missense_Mutation_p.E2866G|MACF1_ENST00000567887.1_Missense_Mutation_p.E4965G|MACF1_ENST00000289893.4_Missense_Mutation_p.E3368G|MACF1_ENST00000564288.1_Missense_Mutation_p.E4928G|MACF1_ENST00000539005.1_Missense_Mutation_p.E2845G|MACF1_ENST00000317713.7_Missense_Mutation_p.E2866G|MACF1_ENST00000545844.1_Missense_Mutation_p.E2866G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4933					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E2866G(1)|p.E3368G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGATGTCTGAGTTGCGAGTC	0.478																																																2	Substitution - Missense(2)	ovary(2)	1											62	60	61					1																	39853297		2203	4300	6503	39625884	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14798A>G	1.37:g.39853297A>G	ENSP00000362006:p.Glu4933Gly		39625884	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.76|11.76	1.733321|1.733321	0.30684|0.30684	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63;0.63|.	6.17|6.17	5.06|5.06	0.68205|0.68205	.|.	0.269982|.	0.32015|.	N|.	0.006705|.	T|.	0.53867|.	0.1823|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;B|.	0.13145|.	0.0;0.007;0.005|.	B;B;B|.	0.17979|.	0.007;0.017;0.02|.	T|.	0.49826|.	-0.8898|.	10|.	0.34782|.	T|.	0.22|.	.|.	11.8368|11.8368	0.52330|0.52330	0.9327:0.0:0.0673:0.0|0.9327:0.0:0.0673:0.0	.|.	4933;2866;2810|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	G|W	2866;4933;2866;2866;2845;3368|1978	ENSP00000439537:E2866G;ENSP00000362006:E4933G;ENSP00000354573:E2866G;ENSP00000313438:E2866G;ENSP00000444364:E2845G;ENSP00000289893:E3368G|.	ENSP00000289893:E3368G|.	E|X	+|+	2|3	0|0	MACF1|MACF1	39625884|39625884	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	5.173000|5.173000	0.65010|0.65010	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39853297	A	G	39853297	3	3	377	1	0	0	0	0	1	0	0	0	9144	304	11	4	14958	4	MACF1	1	39853297	Missense_Mutation	SNP	A	TCGA-36-1574-01A-01W-0615-10		39853297	209397324	1	20603											
TMEM18	129787	hgsc.bcm.edu	37	2	672847	672847	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr2:672847C>A	ENST00000281017.3	-	3	287	c.194G>T	c.(193-195)tGt>tTt	p.C65F	TMEM18_ENST00000405941.3_Missense_Mutation_p.C68F|TMEM18_ENST00000355654.2_Missense_Mutation_p.C52F	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	65					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)	p.C65F(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GTATTCAGCACAGTAGACTAA	0.478																																																1	Substitution - Missense(1)	ovary(1)	2											62	64	63					2																	672847		2203	4300	6503	662847	SO:0001583	missense	129787			AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.194G>T	2.37:g.672847C>A	ENSP00000281017:p.Cys65Phe		662847	D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	ENST00000281017.3	37	CCDS33141.1	.	.	.	.	.	.	.	.	.	.	C	0.888	-0.726472	0.03158	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.12	4.19	0.49359	.	0.187999	0.56097	D	0.000023	T	0.43144	0.1234	L	0.29908	0.895	0.38158	D	0.938945	B	0.18461	0.028	B	0.17433	0.018	T	0.36890	-0.9729	9	0.23302	T	0.38	-4.0E-4	12.1844	0.54229	0.0:0.8273:0.1727:0.0	.	65	Q96B42	TMM18_HUMAN	F	65;52;68	.	ENSP00000281017:C65F	C	-	2	0	TMEM18	662847	0.732000	0.28121	0.843000	0.33291	0.086000	0.17979	1.288000	0.33296	2.556000	0.86216	0.555000	0.69702	TGT		0.478	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834		A	672847	C	A	672847	3	1	377	1	0	0	0	0	1	0	0	0	16098	478	17	3	240	3	TMEM18	2	672847	Missense_Mutation	SNP	C	TCGA-36-1574-01A-01W-0615-10		672847	242526526	2	20604											
EFEMP1	2202	hgsc.bcm.edu	37	2	56144830	56144831	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr2:56144830_56144831delAG	ENST00000394555.2	-	4	921_922	c.486_487delCT	c.(484-489)ggctacfs	p.Y163fs	EFEMP1_ENST00000394554.1_Frame_Shift_Del_p.Y163fs|EFEMP1_ENST00000424836.2_Frame_Shift_Del_p.Y105fs|EFEMP1_ENST00000355426.3_Frame_Shift_Del_p.Y163fs	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	163					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.Y163fs*4(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTTGCTCGTAGCCTGCTGCAC	0.505																																					GBM(92;934 1319 7714 28760 40110)											1	Deletion - Frameshift(1)	ovary(1)	2																																								55998335	SO:0001589	frameshift_variant	2202			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.486_487delCT	2.37:g.56144830_56144831delAG	ENSP00000378058:p.Tyr163fs		55998334	A8K3I4|B4DW75|D6W5D2|Q541U7	Frame_Shift_Del	DEL	ENST00000394555.2	37	CCDS1857.1																																																																																				0.505	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			-	56144831	AG	-	56144830	7	5	377	1	0	1	0	1	0	0	0	0	4941	420	15	0	1026	0	EFEMP1	2	56144830	Frame_Shift_Del	DEL	AG	TCGA-36-1574-01A-01W-0615-10	55471983	56144830	187054543	3	20605											
IL1RL2	8808	hgsc.bcm.edu	37	2	102818085	102818085	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr2:102818085G>A	ENST00000264257.2	+	5	685	c.559G>A	c.(559-561)Gca>Aca	p.A187T	IL1RL2_ENST00000441515.2_Missense_Mutation_p.A70T|IL1RL2_ENST00000539491.1_Missense_Mutation_p.A187T|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	187	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.A187T(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAATGTCTCGGCAGAGGACAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											131	114	120					2																	102818085		2203	4300	6503	102184517	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.559G>A	2.37:g.102818085G>A	ENSP00000264257:p.Ala187Thr		102184517	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381003	0.24944	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.14516	2.5;3.94;2.5	4.81	2.72	0.32119	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.910742	0.09490	N	0.795006	T	0.10078	0.0247	L	0.38531	1.155	0.09310	N	1	B;B	0.24258	0.059;0.1	B;B	0.25405	0.017;0.06	T	0.43491	-0.9388	10	0.09843	T	0.71	.	6.4763	0.22037	0.2618:0.0:0.7382:0.0	.	70;187	A4FU63;Q9HB29	.;ILRL2_HUMAN	T	187;70;187	ENSP00000264257:A187T;ENSP00000413348:A70T;ENSP00000442184:A187T	ENSP00000264257:A187T	A	+	1	0	IL1RL2	102184517	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	0.176000	0.16782	0.563000	0.29222	0.462000	0.41574	GCA		0.433	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		A	102818085	G	A	102818085	3	1	377	1	0	0	0	0	1	0	0	0	7664	1203	42	2	573	2	IL1RL2	2	102818085	Missense_Mutation	SNP	G	TCGA-36-1574-01A-01W-0615-10	46673255	102818085	140381288	4	20606											
DLX2	1746	hgsc.bcm.edu	37	2	172966865	172966865	+	Splice_Site	SNP	A	A	G			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr2:172966865A>G	ENST00000234198.4	-	1	762		c.e1+1		DLX2_ENST00000466293.2_Splice_Site|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2						brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)	p.?(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGTTATGCATACCAGGCTCGT	0.562																																					GBM(188;775 2993 11256 23072)											1	Unknown(1)	ovary(1)	2											124	117	120					2																	172966865		2203	4300	6503	172675111	SO:0001630	splice_region_variant	1746			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.400+1T>C	2.37:g.172966865A>G			172675111	B4DMK4|B7ZA14	Splice_Site	SNP	ENST00000234198.4	37	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894395	0.72639	.	.	ENSG00000115844	ENST00000234198;ENST00000466293	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0935	0.65006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLX2	172675111	1.000000	0.71417	0.866000	0.34008	0.891000	0.51852	6.618000	0.74214	1.799000	0.52666	0.454000	0.30748	.		0.562	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3		Intron	G	172966865	A	G	172966865	5	3	377	1	0	0	0	0	0	0	1	0	4571	405	14	4	596	4	DLX2	2	172966865	Splice_Site	SNP	A	TCGA-36-1574-01A-01W-0615-10	70148780	172966865	70232508	5	20607											
PASK	23178	hgsc.bcm.edu	37	2	242046885	242046885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr2:242046885G>A	ENST00000405260.1	-	17	4395	c.3697C>T	c.(3697-3699)Cag>Tag	p.Q1233*	PASK_ENST00000234040.4_Nonsense_Mutation_p.Q1233*|PASK_ENST00000544142.1_Nonsense_Mutation_p.Q1047*|PASK_ENST00000358649.4_Nonsense_Mutation_p.Q1240*|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000539818.1_Nonsense_Mutation_p.Q1017*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.Q1233*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGACTGGCTGCAGCAGCCCA	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	2											132	129	130					2																	242046885		2203	4300	6503	241695558	SO:0001587	stop_gained	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3697C>T	2.37:g.242046885G>A	ENSP00000384016:p.Gln1233*		241695558	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Nonsense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	47	13.599208	0.99752	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	.	.	.	5.05	5.05	0.67936	.	0.390556	0.21919	N	0.067184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.4158	0.90570	0.0:0.0:1.0:0.0	.	.	.	.	X	1233;1047;1233;1240;1017	.	ENSP00000234040:Q1233X	Q	-	1	0	PASK	241695558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.804000	0.85993	2.338000	0.79540	0.655000	0.94253	CAG		0.532	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242046885	G	A	242046885	4	1	377	1	0	0	0	0	0	1	0	0	11472	1328	46	2	282	2	PASK	2	242046885	Nonsense_Mutation	SNP	G	TCGA-36-1574-01A-01W-0615-10	69080020	242046885	1152488	6	20608											
CCR9	10803	hgsc.bcm.edu	37	3	45943063	45943063	+	Silent	SNP	C	C	T			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr3:45943063C>T	ENST00000357632.2	+	3	963	c.783C>T	c.(781-783)acC>acT	p.T261T	CCR9_ENST00000395963.2_Silent_p.T249T|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.T249T|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	261					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.T261T(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CTGTCCTGACCGTCTTTGTCT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	3											216	176	189					3																	45943063		2203	4300	6503	45918067	SO:0001819	synonymous_variant	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.783C>T	3.37:g.45943063C>T			45918067	Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	CCDS2732.1																																																																																				0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			T	45943063	C	T	45943063	2	4	377	1	0	0	0	0	0	0	0	1	2948	639	23	1		1	CCR9	3	45943063	Silent	SNP	C	TCGA-36-1574-01A-01W-0615-10		45943063	152079367	7	20609											
LAMB2	3913	hgsc.bcm.edu	37	3	49169731	49169731	+	Silent	SNP	C	C	A			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr3:49169731C>A	ENST00000418109.1	-	4	521	c.357G>T	c.(355-357)cgG>cgT	p.R119R	LAMB2_ENST00000305544.4_Silent_p.R119R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	119	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R119R(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGCTGCCCGCCGCTGTGGTG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	3											67	72	71					3																	49169731		2203	4300	6503	49144735	SO:0001819	synonymous_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.357G>T	3.37:g.49169731C>A			49144735	Q16321	Silent	SNP	ENST00000418109.1	37	CCDS2789.1																																																																																				0.582	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		A	49169731	C	A	49169731	2	1	377	1	0	0	0	0	0	0	0	1	8611	726	26	3		3	LAMB2	3	49169731	Silent	SNP	C	TCGA-36-1574-01A-01W-0615-10	3226668	49169731	148852699	8	20610											
MANBA	4126	hgsc.bcm.edu	37	4	103645120	103645120	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr4:103645120A>G	ENST00000226578.4	-	3	376	c.277T>C	c.(277-279)Tgg>Cgg	p.W93R	MANBA_ENST00000505239.1_Missense_Mutation_p.W93R	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	93					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.W93R(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ACTTTTTGCCATTTGCTAAAA	0.279																																																1	Substitution - Missense(1)	ovary(1)	4											39	40	39					4																	103645120		2201	4296	6497	103864166	SO:0001583	missense	4126				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.277T>C	4.37:g.103645120A>G	ENSP00000226578:p.Trp93Arg		103864166	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	A	9.727	1.161149	0.21538	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.71698	-0.59;0.54	5.03	3.81	0.43845	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.364959	0.32401	N	0.006145	T	0.53400	0.1794	N	0.25201	0.72	0.29386	N	0.862966	B;B	0.10296	0.003;0.0	B;B	0.11329	0.001;0.006	T	0.42766	-0.9432	10	0.18710	T	0.47	-5.0045	10.9409	0.47273	0.8594:0.0:0.0:0.1406	.	93;93	E9PFW2;O00462	.;MANBA_HUMAN	R	93	ENSP00000226578:W93R;ENSP00000427322:W93R	ENSP00000226578:W93R	W	-	1	0	MANBA	103864166	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.736000	0.47385	0.830000	0.34757	0.477000	0.44152	TGG		0.279	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			G	103645120	A	G	103645120	3	3	377	1	0	0	0	0	1	0	0	0	9219	217	8	4	2422	4	MANBA	4	103645120	Missense_Mutation	SNP	A	TCGA-36-1574-01A-01W-0615-10		103645120	87509156	9	20611											
ACOT12	134526	hgsc.bcm.edu	37	5	80641811	80641811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr5:80641811C>T	ENST00000307624.3	-	7	694	c.666G>A	c.(664-666)tgG>tgA	p.W222*	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	222	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.W222*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AGGGATGAGCCCAACACAGGC	0.453																																																1	Substitution - Nonsense(1)	ovary(1)	5											62	58	60					5																	80641811		2203	4300	6503	80677567	SO:0001587	stop_gained	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.666G>A	5.37:g.80641811C>T	ENSP00000303246:p.Trp222*		80677567	B3KVK9|Q5FWE9	Nonsense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548424	0.45383	.	.	ENSG00000172497	ENST00000307624	.	.	.	5.95	-11.9	0.00025	.	1.569550	0.03369	N	0.198738	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-32.396	1.4595	0.02392	0.2328:0.113:0.211:0.4433	.	.	.	.	X	222	.	ENSP00000303246:W222X	W	-	3	0	ACOT12	80677567	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.364000	0.02590	-2.334000	0.00630	-0.334000	0.08254	TGG		0.453	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		T	80641811	C	T	80641811	4	4	377	1	0	0	0	0	0	1	0	0	150	624	22	2	1037	2	ACOT12	5	80641811	Nonsense_Mutation	SNP	C	TCGA-36-1574-01A-01W-0615-10		80641811	100273449	10	20612											
VCAN	1462	hgsc.bcm.edu	37	5	82816305	82816305	+	Missense_Mutation	SNP	C	C	T	rs199694481		TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr5:82816305C>T	ENST00000265077.3	+	7	2745	c.2180C>T	c.(2179-2181)tCt>tTt	p.S727F	VCAN_ENST00000512590.2_Missense_Mutation_p.S679F|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S727F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	727	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.S727F(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATGAAACTCTCTACATCTCTC	0.368													C|||	1	0.000199681	0	0	5008	,	,		19358	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5											71	73	72					5																	82816305		2203	4300	6503	82852061	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2180C>T	5.37:g.82816305C>T	ENSP00000265077:p.Ser727Phe		82852061	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.359	-0.940600	0.02322	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.29917	1.55;1.55;1.55	5.36	3.55	0.40652	.	0.364135	0.23821	N	0.044228	T	0.27063	0.0663	L	0.50333	1.59	0.09310	N	1	B;B	0.15473	0.009;0.013	B;B	0.19148	0.008;0.024	T	0.13335	-1.0513	10	0.51188	T	0.08	.	9.7155	0.40272	0.0:0.8541:0.0:0.1459	.	727;727	P13611-3;P13611	.;CSPG2_HUMAN	F	727;727;679	ENSP00000265077:S727F;ENSP00000342768:S727F;ENSP00000425959:S679F	ENSP00000265077:S727F	S	+	2	0	VCAN	82852061	0.000000	0.05858	0.052000	0.19188	0.003000	0.03518	-0.448000	0.06820	2.516000	0.84829	0.655000	0.94253	TCT		0.368	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82816305	C	T	82816305	3	4	377	1	0	0	0	0	1	0	0	0	17138	913	32	2	2202	2	VCAN	5	82816305	Missense_Mutation	SNP	C	TCGA-36-1574-01A-01W-0615-10	2174494	82816305	98098955	11	20613											
SCGN	10590	hgsc.bcm.edu	37	6	25665246	25665246	+	Missense_Mutation	SNP	G	G	A	rs182880487		TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr6:25665246G>A	ENST00000377961.2	+	4	490	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	108	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.V108M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGACAGCAGCGTGGAGTTTAT	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		22560	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6											117	107	111					6																	25665246		2203	4300	6503	25773225	SO:0001583	missense	10590			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.322G>A	6.37:g.25665246G>A	ENSP00000367197:p.Val108Met		25773225	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.28	2.487350	0.44249	.	.	ENSG00000079689	ENST00000377961	T	0.09630	2.96	5.09	5.09	0.68999	EF-hand-like domain (1);	0.056322	0.64402	D	0.000001	T	0.28200	0.0696	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	P	0.61940	0.896	T	0.13872	-1.0493	10	0.56958	D	0.05	.	17.2839	0.87136	0.0:0.0:1.0:0.0	.	108	O76038	SEGN_HUMAN	M	108	ENSP00000367197:V108M	ENSP00000367197:V108M	V	+	1	0	SCGN	25773225	1.000000	0.71417	0.997000	0.53966	0.114000	0.19823	5.395000	0.66291	2.343000	0.79666	0.585000	0.79938	GTG		0.488	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			A	25665246	G	A	25665246	3	1	377	1	0	0	0	0	1	0	0	0	13906	1145	40	1	336	1	SCGN	6	25665246	Missense_Mutation	SNP	G	TCGA-36-1574-01A-01W-0615-10		25665246	145449821	12	20614											
FIG4	9896	hgsc.bcm.edu	37	6	110087933	110087933	+	Splice_Site	SNP	T	T	G	rs539336245		TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr6:110087933T>G	ENST00000230124.3	+	15	1709	c.1585T>G	c.(1585-1587)Tta>Gta	p.L529V	FIG4_ENST00000441478.2_Splice_Site_p.L252V	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	529	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.L529V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTTTTTTAGGTTATTTGAGGA	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											127	120	123					6																	110087933		2203	4300	6503	110194626	SO:0001630	splice_region_variant	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1584-1T>G	6.37:g.110087933T>G			110194626	Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.79|13.79	2.341796|2.341796	0.41498|0.41498	.|.	.|.	ENSG00000112367|ENSG00000112367	ENST00000441478;ENST00000230124|ENST00000415980	T;T|.	0.53423|.	1.92;0.62|.	5.3|5.3	2.97|2.97	0.34412|0.34412	Synaptojanin, N-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000012|.	T|T	0.28101|0.28101	0.0693|0.0693	N|N	0.25380|0.25380	0.74|0.74	0.49915|0.49915	D|D	0.999838|0.999838	D;P|.	0.67145|.	0.996;0.462|.	D;B|.	0.80764|.	0.994;0.288|.	T|T	0.05733|0.05733	-1.0867|-1.0867	10|5	0.30078|.	T|.	0.28|.	-13.5222|-13.5222	8.4565|8.4565	0.32901|0.32901	0.0:0.2571:0.0:0.7429|0.0:0.2571:0.0:0.7429	.|.	252;529|.	F5H8L9;Q92562|.	.;FIG4_HUMAN|.	V|G	252;529|1	ENSP00000399443:L252V;ENSP00000230124:L529V|.	ENSP00000230124:L529V|.	L|V	+|+	1|2	2|0	FIG4|FIG4	110194626|110194626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.044000|2.044000	0.41241|0.41241	2.009000|2.009000	0.58944|0.58944	0.454000|0.454000	0.30748|0.30748	TTA|GTT		0.348	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845	Missense_Mutation	G	110087933	T	G	110087933	5	3	377	1	0	0	0	0	0	0	1	0	5888	1739	60	5	1643	5	FIG4	6	110087933	Splice_Site	SNP	T	TCGA-36-1574-01A-01W-0615-10	84422687	110087933	61027134	13	20615											
PLEKHA8	84725	hgsc.bcm.edu	37	7	30094902	30094902	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr7:30094902G>T	ENST00000449726.1	+	9	1333	c.983G>T	c.(982-984)aGt>aTt	p.S328I	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S328I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S328I|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S328I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	328	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.S328I(1)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CTGGAAGACAGTGGCATTCCC	0.393																																																1	Substitution - Missense(1)	ovary(1)	7											216	182	193					7																	30094902		2203	4300	6503	30061427	SO:0001583	missense	84725			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.983G>T	7.37:g.30094902G>T	ENSP00000397947:p.Ser328Ile		30061427	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207241	0.79127	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.93	5.93	0.95920	Glycolipid transfer protein domain (2);	0.181679	0.52532	D	0.000063	T	0.67439	0.2893	L	0.50333	1.59	0.37064	D	0.898196	D;D;B;D	0.55800	0.958;0.966;0.429;0.973	P;P;B;P	0.61275	0.748;0.837;0.421;0.886	T	0.70988	-0.4722	9	0.49607	T	0.09	-22.506	13.2015	0.59772	0.0765:0.0:0.9235:0.0	.	328;328;328;328	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	I	328;328;328;328;354	.	ENSP00000258679:S328I	S	+	2	0	PLEKHA8	30061427	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.330000	0.52068	2.814000	0.96858	0.591000	0.81541	AGT		0.393	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		T	30094902	G	T	30094902	3	4	377	1	0	0	0	0	1	0	0	0	12062	1029	36	3	1017	3	PLEKHA8	7	30094902	Missense_Mutation	SNP	G	TCGA-36-1574-01A-01W-0615-10		30094902	129043761	14	20616											
NRCAM	4897	hgsc.bcm.edu	37	7	107824879	107824879	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr7:107824879A>G	ENST00000425651.2	-	18	2214	c.2215T>C	c.(2215-2217)Tat>Cat	p.Y739H	NRCAM_ENST00000351718.4_Missense_Mutation_p.Y723H|NRCAM_ENST00000379022.4_Missense_Mutation_p.Y739H|NRCAM_ENST00000413765.2_Missense_Mutation_p.Y720H|NRCAM_ENST00000379028.3_Missense_Mutation_p.Y739H|NRCAM_ENST00000379024.4_Missense_Mutation_p.Y720H	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	739	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.Y723H(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTCGTCAAATACTGCTCAGAC	0.498																																																1	Substitution - Missense(1)	ovary(1)	7											81	72	75					7																	107824879		2203	4300	6503	107612115	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2215T>C	7.37:g.107824879A>G	ENSP00000401244:p.Tyr739His		107612115	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755242	0.31046	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.46	5.46	0.80206	Fibronectin, type III (2);	0.058395	0.64402	D	0.000001	T	0.65439	0.2691	L	0.59436	1.845	0.80722	D	1	D;B;D;B;B	0.61697	0.957;0.008;0.99;0.008;0.063	P;B;P;B;B	0.62435	0.894;0.068;0.902;0.084;0.048	T	0.62334	-0.6876	10	0.27082	T	0.32	.	15.5468	0.76108	1.0:0.0:0.0:0.0	.	739;720;720;723;739	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	H	739;739;720;739;723;720;739;739;723	ENSP00000368314:Y739H;ENSP00000407858:Y720H;ENSP00000325269:Y723H;ENSP00000368310:Y720H;ENSP00000401244:Y739H;ENSP00000368308:Y739H	ENSP00000325269:Y723H	Y	-	1	0	NRCAM	107612115	1.000000	0.71417	0.299000	0.25016	0.416000	0.31233	9.268000	0.95675	2.061000	0.61500	0.482000	0.46254	TAT		0.498	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		G	107824879	A	G	107824879	3	3	377	1	0	0	0	0	1	0	0	0	10644	391	14	4	1781	4	NRCAM	7	107824879	Missense_Mutation	SNP	A	TCGA-36-1574-01A-01W-0615-10	77729977	107824879	51313784	15	20617											
NSMAF	8439	hgsc.bcm.edu	37	8	59508179	59508179	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr8:59508179G>A	ENST00000038176.3	-	22	2044	c.1832C>T	c.(1831-1833)aCa>aTa	p.T611I	NSMAF_ENST00000427130.2_Missense_Mutation_p.T642I	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	611					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.T611I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCAGGCCAGTGTTTTGCTTTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	8											193	176	182					8																	59508179		2203	4300	6503	59670733	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1832C>T	8.37:g.59508179G>A	ENSP00000038176:p.Thr611Ile		59670733	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798472	0.31777	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.53857	0.61;0.6	5.95	4.11	0.48088	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.263058	0.43919	D	0.000510	T	0.38852	0.1056	L	0.36672	1.1	0.09310	N	1	B;B	0.25235	0.098;0.121	B;B	0.26770	0.073;0.021	T	0.22138	-1.0225	9	.	.	.	.	7.3945	0.26929	0.066:0.1241:0.6808:0.129	.	642;611	Q92636-2;Q92636	.;FAN_HUMAN	I	611;642	ENSP00000038176:T611I;ENSP00000411012:T642I	.	T	-	2	0	NSMAF	59670733	0.697000	0.27767	0.202000	0.23494	0.731000	0.41821	0.985000	0.29578	0.798000	0.33994	0.650000	0.86243	ACA		0.408	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		A	59508179	G	A	59508179	3	1	377	1	0	0	0	0	1	0	0	0	10674	1377	48	2	961	2	NSMAF	8	59508179	Missense_Mutation	SNP	G	TCGA-36-1574-01A-01W-0615-10		59508179	86855843	16	20618											
TG	7038	hgsc.bcm.edu	37	8	134034374	134034374	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr8:134034374G>A	ENST00000220616.4	+	40	7055	c.7015G>A	c.(7015-7017)Gtc>Atc	p.V2339I	TG_ENST00000519543.1_Missense_Mutation_p.V472I|TG_ENST00000377869.1_Missense_Mutation_p.V2282I|TG_ENST00000542445.1_Missense_Mutation_p.V709I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2339					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.V2339I(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCGAGTGGGTGTCTTCGGCTT	0.607																																																1	Substitution - Missense(1)	ovary(1)	8											152	138	143					8																	134034374		2203	4300	6503	134103556	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7015G>A	8.37:g.134034374G>A	ENSP00000220616:p.Val2339Ile		134103556	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.99|11.99	1.804726|1.804726	0.31961|0.31961	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178;ENST00000518108|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.57907	.|0.37;0.37;0.37;0.37	5.93|5.93	-3.33|-3.33	0.04958|0.04958	.|Carboxylesterase, type B (1);	.|0.707010	.|0.13621	.|N	.|0.374441	T|T	0.29945|0.29945	0.0749|0.0749	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.22480	.|0.039;0.009;0.07	.|B;B;B	.|0.25140	.|0.032;0.023;0.058	T|T	0.17531|0.17531	-1.0366|-1.0366	5|10	.|0.36615	.|T	.|0.2	.|.	8.509|8.509	0.33206|0.33206	0.4812:0.1028:0.416:0.0|0.4812:0.1028:0.416:0.0	.|.	.|472;709;2339	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Y|I	794;134|2282;1145;2339;709;472	.|ENSP00000367100:V2282I;ENSP00000220616:V2339I;ENSP00000441693:V709I;ENSP00000430430:V472I	.|ENSP00000220616:V2339I	C|V	+|+	2|1	0|0	TG|TG	134103556|134103556	0.348000|0.348000	0.24861|0.24861	0.228000|0.228000	0.23943|0.23943	0.974000|0.974000	0.67602|0.67602	0.642000|0.642000	0.24735|0.24735	-0.574000|-0.574000	0.05990|0.05990	0.561000|0.561000	0.74099|0.74099	TGT|GTC		0.607	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	134034374	G	A	134034374	3	1	377	1	0	0	0	0	1	0	0	0	15813	1377	48	2	7173	2	TG	8	134034374	Missense_Mutation	SNP	G	TCGA-36-1574-01A-01W-0615-10	74526195	134034374	12329648	17	20619											
ZBTB5	9925	hgsc.bcm.edu	37	9	37442044	37442044	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1574-01A-01W-0615-10	TCGA-36-1574-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	47f82a86-204a-4566-af3b-c4e084244c7f	2d8f57df-de71-4451-acfc-98254849e862	g.chr9:37442044C>T	ENST00000307750.4	-	2	693	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A169T(1)		NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTCATGGGGGCTGGCTGCTCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	9											53	53	53					9																	37442044		2203	4298	6501	37432044	SO:0001583	missense	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.505G>A	9.37:g.37442044C>T	ENSP00000307604:p.Ala169Thr		37432044		Missense_Mutation	SNP	ENST00000307750.4	37	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904337	0.17760	.	.	ENSG00000168795	ENST00000307750	T	0.08458	3.09	5.54	3.57	0.40892	.	0.267397	0.29459	N	0.012084	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	10	0.19147	T	0.46	.	7.2223	0.25994	0.0:0.6639:0.0:0.3361	.	169	O15062	ZBTB5_HUMAN	T	169	ENSP00000307604:A169T	ENSP00000307604:A169T	A	-	1	0	ZBTB5	37432044	.	.	0.869000	0.34112	0.932000	0.56968	.	.	1.571000	0.49722	0.655000	0.94253	GCC		0.612	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		T	37442044	C	T	37442044	3	4	377	1	0	0	0	0	1	0	0	0	17551	797	28	2	1532	2	ZBTB5	9	37442044	Missense_Mutation	SNP	C	TCGA-36-1574-01A-01W-0615-10		37442044	103771387	18	20620											
MAD2L2	10459	hgsc.bcm.edu	37	1	11736164	11736164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr1:11736164delC	ENST00000235310.3	-	8	1294	c.366delG	c.(364-366)ctgfs	p.L123fs	MAD2L2_ENST00000376692.4_Frame_Shift_Del_p.L123fs|MAD2L2_ENST00000376669.5_Frame_Shift_Del_p.L136fs|MAD2L2_ENST00000376672.1_Frame_Shift_Del_p.L136fs|MAD2L2_ENST00000376667.3_Frame_Shift_Del_p.L123fs			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	123	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with REV1 and REV3L and homodimerization.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)	p.L123fs*6(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCCGGAGCAGCTGCTCCA	0.617								DNA polymerases (catalytic subunits)																																								1	Deletion - Frameshift(1)	ovary(1)	1											77	68	71					1																	11736164		2203	4300	6503	11658751	SO:0001589	frameshift_variant	10459			AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"DNA polymerases"	6764	protein-coding gene	gene with protein product	"mitotic arrest deficient homolog-like 2", "polymerase (DNA-directed), zeta 2, accessory subunit"	604094	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.366delG	1.37:g.11736164delC	ENSP00000235310:p.Leu123fs		11658751	B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Frame_Shift_Del	DEL	ENST00000235310.3	37	CCDS134.1																																																																																				0.617	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2	NM_006341		-	11736164	C	-	11736164	7	5	378	1	0	1	0	1	0	0	0	0	9150	697	25	0	285	0	MAD2L2	1	11736164	Frame_Shift_Del	DEL	C	TCGA-36-1575-01A-01W-0615-10		11736164	237514457	1	20621											
KIF17	57576	hgsc.bcm.edu	37	1	21014310	21014310	+	Silent	SNP	C	C	T	rs540680062		TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr1:21014310C>T	ENST00000247986.2	-	8	1819	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	KIF17_ENST00000375044.1_Silent_p.T403T|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Silent_p.T503T			Q9P2E2	KIF17_HUMAN	kinesin family member 17	503					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.T503T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAGTGTCAGTCGTGGAGAAGA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	1											88	82	84					1																	21014310		2203	4300	6503	20886897	SO:0001819	synonymous_variant	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1509G>A	1.37:g.21014310C>T			20886897	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																				0.547	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		T	21014310	C	T	21014310	2	4	378	1	0	0	0	0	0	0	0	1	8279	871	31	1		1	KIF17	1	21014310	Silent	SNP	C	TCGA-36-1575-01A-01W-0615-10	9278146	21014310	228236311	2	20622											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144866597	144866597	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr1:144866597C>G	ENST00000369354.3	-	34	5834	c.5645G>C	c.(5644-5646)gGa>gCa	p.G1882A	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.G2018A|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G1882A|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1776A|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G1967A|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1882					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.G1882A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTACCCCTTCCACGAGCAGT	0.532			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - Missense(1)	ovary(1)	1											227	243	237					1																	144866597		2203	4296	6499	143577954	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5645G>C	1.37:g.144866597C>G	ENSP00000358360:p.Gly1882Ala		143577954	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.01|11.01	1.513071|1.513071	0.27123|0.27123	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01505	.|4.82;4.92;4.92;4.92;4.92	5.13|5.13	-3.1|-3.1	0.05315|0.05315	.|.	.|.	.|.	.|.	.|.	T|T	0.00637|0.00637	0.0021|0.0021	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.12013	.|0.003;0.005	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.43261|0.43261	-0.9402|-0.9402	5|9	.|0.44086	.|T	.|0.13	.|.	6.019|6.019	0.19618|0.19618	0.0:0.3276:0.3549:0.3175|0.0:0.3276:0.3549:0.3175	.|.	.|1776;1882	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	Q|A	39|1776;1882;1882;1967;2018	.|ENSP00000327209:G1776A;ENSP00000358360:G1882A;ENSP00000358363:G1882A;ENSP00000435654:G1967A;ENSP00000358366:G2018A	.|ENSP00000327209:G1776A	E|G	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143577954|143577954	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.069000|0.069000	0.16628|0.16628	-0.140000|-0.140000	0.10342|0.10342	-0.180000|-0.180000	0.10637|0.10637	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144866597	C	G	144866597	3	3	378	1	0	0	0	0	1	0	0	0	11643	855	30	3	1439	3	PDE4DIP	1	144866597	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10	123852287	144866597	104384024	3	20623											
TIPRL	261726	hgsc.bcm.edu	37	1	168165880	168165880	+	Splice_Site	SNP	G	G	A			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr1:168165880G>A	ENST00000367833.2	+	5	757	c.612G>A	c.(610-612)gaG>gaA	p.E204E		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	204	Interaction with PPP2CA.				DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.E204E(1)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TTTACCATGAGGTATTTATTG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	1											104	106	106					1																	168165880		2203	4300	6503	166432504	SO:0001630	splice_region_variant	261726			AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.612+1G>A	1.37:g.168165880G>A			166432504	B2R8V3|Q5HYB2|Q8IZ86	Silent	SNP	ENST00000367833.2	37	CCDS1270.1																																																																																				0.328	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902	Silent	A	168165880	G	A	168165880	5	1	378	1	0	0	0	0	0	0	1	0	15926	1014	35	2	655	2	TIPRL	1	168165880	Splice_Site	SNP	G	TCGA-36-1575-01A-01W-0615-10	23299283	168165880	81084741	4	20624											
CSRP1	1465	hgsc.bcm.edu	37	1	201459309	201459309	+	Missense_Mutation	SNP	G	G	C	rs143052124	byFrequency	TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr1:201459309G>C	ENST00000367306.1	-	4	639	c.276C>G	c.(274-276)caC>caG	p.H92Q	CSRP1_ENST00000531916.1_Missense_Mutation_p.H92Q|CSRP1_ENST00000458271.2_5'UTR|CSRP1_ENST00000533432.1_Missense_Mutation_p.H92Q|CSRP1_ENST00000340006.2_Missense_Mutation_p.H92Q|CSRP1_ENST00000532460.1_Missense_Mutation_p.H92Q|CSRP1_ENST00000526723.1_Missense_Mutation_p.H59Q			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	92					platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H92Q(1)		large_intestine(3)|lung(2)|ovary(1)	6						CTCACTCCTCGTGCTTGATAC	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											76	69	71					1																	201459309		2203	4300	6503	199725932	SO:0001583	missense	1465			M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.276C>G	1.37:g.201459309G>C	ENSP00000356275:p.His92Gln		199725932	A8K268|Q5U0J2	Missense_Mutation	SNP	ENST00000367306.1	37	CCDS1413.1	.	.	.	.	.	.	.	.	.	.	G	8.145	0.786049	0.16189	.	.	ENSG00000159176	ENST00000367306;ENST00000340006;ENST00000531916;ENST00000532460;ENST00000533432;ENST00000526723;ENST00000524951	T;T;T;T;T;T;T	0.70869	-0.01;-0.01;-0.52;-0.01;-0.01;-0.2;-0.25	5.19	-6.42	0.01932	.	0.538222	0.20433	N	0.092437	T	0.47040	0.1424	L	0.40543	1.245	0.38311	D	0.94325	B;B;B	0.24768	0.111;0.007;0.0	B;B;B	0.28139	0.086;0.031;0.001	T	0.30475	-0.9977	10	0.14656	T	0.56	0.0282	1.9818	0.03428	0.3656:0.2231:0.3027:0.1086	.	92;92;92	B4E2T4;B4DY28;P21291	.;.;CSRP1_HUMAN	Q	92;92;92;92;92;59;55	ENSP00000356275:H92Q;ENSP00000345079:H92Q;ENSP00000432110:H92Q;ENSP00000434147:H92Q;ENSP00000436792:H92Q;ENSP00000436491:H59Q;ENSP00000437218:H55Q	ENSP00000345079:H92Q	H	-	3	2	CSRP1	199725932	0.000000	0.05858	0.443000	0.26883	0.530000	0.34684	-2.506000	0.00962	-1.513000	0.01789	-0.781000	0.03364	CAC		0.537	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087027.1	NM_004078		C	201459309	G	C	201459309	3	2	378	1	0	0	0	0	1	0	0	0	3966	1136	40	3	337	3	CSRP1	1	201459309	Missense_Mutation	SNP	G	TCGA-36-1575-01A-01W-0615-10	33293429	201459309	47791312	5	20625											
ATP6V1C2	245973	hgsc.bcm.edu	37	2	10904525	10904525	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr2:10904525G>A	ENST00000272238.4	+	5	461	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.V118M	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	118					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.V118M(1)|p.V118L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGCCGCTCGTGAGTGTGGT	0.522																																					NSCLC(188;1042 2136 10807 16813 47705)											2	Substitution - Missense(2)	ovary(2)	2											134	121	125					2																	10904525		2203	4300	6503	10821976	SO:0001583	missense	245973			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.352G>A	2.37:g.10904525G>A	ENSP00000272238:p.Val118Met		10821976	Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050141	0.36181	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.42513	0.97;0.97	5.71	3.9	0.45041	.	0.415587	0.24229	N	0.040376	T	0.30479	0.0766	L	0.38531	1.155	0.23150	N	0.998214	B;B	0.16166	0.016;0.006	B;B	0.20384	0.017;0.029	T	0.28038	-1.0056	10	0.66056	D	0.02	-9.111	5.2725	0.15632	0.2287:0.1527:0.6186:0.0	.	118;118	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	M	118	ENSP00000272238:V118M;ENSP00000371077:V118M	ENSP00000272238:V118M	V	+	1	0	ATP6V1C2	10821976	1.000000	0.71417	0.836000	0.33094	0.795000	0.44927	3.260000	0.51523	0.747000	0.32809	0.655000	0.94253	GTG		0.522	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		A	10904525	G	A	10904525	3	1	378	1	0	0	0	0	1	0	0	0	1181	1145	40	1	366	1	ATP6V1C2	2	10904525	Missense_Mutation	SNP	G	TCGA-36-1575-01A-01W-0615-10		10904525	232294848	6	20626											
HS1BP3	64342	hgsc.bcm.edu	37	2	20818991	20818991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr2:20818991A>T	ENST00000304031.3	-	7	960	c.935T>A	c.(934-936)tTg>tAg	p.L312*		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	312							phosphatidylinositol binding (GO:0035091)	p.L312*(1)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCTGGTCCAAGTCCTCTTC	0.577																																																1	Substitution - Nonsense(1)	ovary(1)	2											38	37	37					2																	20818991		2203	4300	6503	20682472	SO:0001587	stop_gained	64342				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.935T>A	2.37:g.20818991A>T	ENSP00000305193:p.Leu312*		20682472	B2RAW2|D6W529|Q86VC2|Q8N367	Nonsense_Mutation	SNP	ENST00000304031.3	37	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	A	37	6.069711	0.97256	.	.	ENSG00000118960	ENST00000304031	.	.	.	5.4	5.4	0.78164	.	0.233630	0.29307	N	0.012526	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5984	11.8233	0.52252	1.0:0.0:0.0:0.0	.	.	.	.	X	312	.	ENSP00000305193:L312X	L	-	2	0	HS1BP3	20682472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.262000	0.51538	2.067000	0.61834	0.496000	0.49642	TTG		0.577	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		T	20818991	A	T	20818991	4	4	378	1	0	0	0	0	0	1	0	0	7361	131	5	5	247	5	HS1BP3	2	20818991	Nonsense_Mutation	SNP	A	TCGA-36-1575-01A-01W-0615-10	9914466	20818991	222380382	7	20627											
DUSP19	142679	hgsc.bcm.edu	37	2	183960270	183960270	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr2:183960270G>C	ENST00000354221.4	+	4	713	c.538G>C	c.(538-540)Gtg>Ctg	p.V180L	DUSP19_ENST00000342619.6_Missense_Mutation_p.V129L|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000413954.1_RNA|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	180	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.V180L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TTTTTCTTTGGTGAAAAATGC	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											133	135	135					2																	183960270		2203	4300	6503	183668515	SO:0001583	missense	142679			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.538G>C	2.37:g.183960270G>C	ENSP00000346160:p.Val180Leu		183668515	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301912	0.95601	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	D;D	0.85629	-2.01;-2.01	5.74	5.74	0.90152	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.107189	0.64402	D	0.000005	D	0.89160	0.6636	L	0.49256	1.55	0.80722	D	1	P;P	0.46578	0.778;0.88	P;P	0.55087	0.55;0.768	D	0.88804	0.3287	10	0.56958	D	0.05	.	19.9092	0.97021	0.0:0.0:1.0:0.0	.	129;180	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	L	129;180	ENSP00000343905:V129L;ENSP00000346160:V180L	ENSP00000343905:V129L	V	+	1	0	DUSP19	183668515	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.835000	0.92100	2.711000	0.92665	0.591000	0.81541	GTG		0.403	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			C	183960270	G	C	183960270	3	2	378	1	0	0	0	0	1	0	0	0	4818	1261	44	3	552	3	DUSP19	2	183960270	Missense_Mutation	SNP	G	TCGA-36-1575-01A-01W-0615-10	163141279	183960270	59239103	8	20628											
HDAC4	9759	hgsc.bcm.edu	37	2	240085532	240085532	+	Missense_Mutation	SNP	T	T	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr2:240085532T>G	ENST00000345617.3	-	6	1369	c.578A>C	c.(577-579)cAc>cCc	p.H193P	HDAC4_ENST00000541256.1_Missense_Mutation_p.H162P|AC017028.1_ENST00000396489.1_5'Flank	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	193	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H193P(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAAATGCAGTGGTTCAGATT	0.587																																																1	Substitution - Missense(1)	ovary(1)	2											129	131	130					2																	240085532		2203	4300	6503	239750469	SO:0001583	missense	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.578A>C	2.37:g.240085532T>G	ENSP00000264606:p.His193Pro		239750469	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.631355	0.28978	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621;ENST00000454542	T;T;T	0.57273	1.01;1.01;0.41	4.31	3.14	0.36123	.	0.181791	0.47093	N	0.000250	T	0.52741	0.1753	L	0.49778	1.585	0.80722	D	1	B;B;B;P;P;P	0.43578	0.0;0.04;0.023;0.811;0.661;0.661	B;B;B;P;B;B	0.48627	0.001;0.029;0.043;0.584;0.333;0.333	T	0.46303	-0.9201	9	.	.	.	.	11.0097	0.47654	0.0:0.0:0.1707:0.8293	.	188;76;162;162;161;193	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	P	193;76;162;76;162	ENSP00000264606:H193P;ENSP00000443057:H162P;ENSP00000405226:H162P	.	H	-	2	0	HDAC4	239750469	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	5.558000	0.67319	0.628000	0.30357	-0.331000	0.08364	CAC		0.587	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		G	240085532	T	G	240085532	3	3	378	1	0	0	0	0	1	0	0	0	7009	1696	59	5	2764	5	HDAC4	2	240085532	Missense_Mutation	SNP	T	TCGA-36-1575-01A-01W-0615-10	56125262	240085532	3113841	9	20629											
GOLGA4	2803	hgsc.bcm.edu	37	3	37323463	37323463	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr3:37323463G>T	ENST00000361924.2	+	3	551	c.177G>T	c.(175-177)caG>caT	p.Q59H	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q81H|GOLGA4_ENST00000435830.2_Intron|GOLGA4_ENST00000444882.1_Missense_Mutation_p.Q59H	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	59					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.Q59H(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTGACACACAGTCTTTTGCAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											79	89	86					3																	37323463		2203	4300	6503	37298467	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.177G>T	3.37:g.37323463G>T	ENSP00000354486:p.Gln59His		37298467	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031671	0.75504	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863;ENST00000431105	T;T	0.31510	1.57;1.49	5.68	4.8	0.61643	.	0.000000	0.34555	N	0.003880	T	0.48857	0.1523	L	0.52573	1.65	0.43195	D	0.995035	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.964;0.997;0.997;0.999	T	0.49643	-0.8918	10	0.72032	D	0.01	.	12.8313	0.57748	0.1362:0.0:0.8638:0.0	.	59;81;59;81	Q86W71;F8W8Q7;Q13439;E7EVX2	.;.;GOGA4_HUMAN;.	H	59;59;81;81;114	ENSP00000354486:Q59H;ENSP00000349305:Q81H	ENSP00000349305:Q81H	Q	+	3	2	GOLGA4	37298467	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.332000	0.33805	1.399000	0.46721	0.563000	0.77884	CAG		0.428	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		T	37323463	G	T	37323463	3	4	378	1	0	0	0	0	1	0	0	0	6555	1020	36	3	257	3	GOLGA4	3	37323463	Missense_Mutation	SNP	G	TCGA-36-1575-01A-01W-0615-10		37323463	160698967	10	20630											
CLDN11	5010	hgsc.bcm.edu	37	3	170136894	170136894	+	Missense_Mutation	SNP	A	A	T			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr3:170136894A>T	ENST00000064724.3	+	1	242	c.40A>T	c.(40-42)Agc>Tgc	p.S14C	RP11-469J4.3_ENST00000468232.1_lincRNA|CLDN11_ENST00000486975.1_Missense_Mutation_p.S14C|CLDN11_ENST00000451576.1_Missense_Mutation_p.S14C	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	14					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S14C(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTTCGTCACGAGCTTCGTGGG	0.672																																																1	Substitution - Missense(1)	ovary(1)	3											37	35	36					3																	170136894		2131	4135	6266	171619588	SO:0001583	missense	5010			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"Claudins"	8514	protein-coding gene	gene with protein product		601326	"oligodendrocyte transmembrane protein"	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.40A>T	3.37:g.170136894A>T	ENSP00000064724:p.Ser14Cys		171619588	B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	ENST00000064724.3	37	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.689300	0.88735	.	.	ENSG00000013297	ENST00000064724;ENST00000486975;ENST00000451576	D;D;D	0.89050	-2.46;-2.46;-2.46	5.15	3.98	0.46160	.	0.080020	0.85682	D	0.000000	D	0.92001	0.7466	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.81914	0.946;0.995	D	0.90366	0.4377	10	0.42905	T	0.14	.	11.0109	0.47663	0.9262:0.0:0.0738:0.0	.	14;14	B4DFI2;O75508	.;CLD11_HUMAN	C	14	ENSP00000064724:S14C;ENSP00000417434:S14C;ENSP00000410185:S14C	ENSP00000064724:S14C	S	+	1	0	CLDN11	171619588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.839000	0.75364	0.791000	0.33826	0.455000	0.32223	AGC		0.672	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		T	170136894	A	T	170136894	3	4	378	1	0	0	0	0	1	0	0	0	3473	304	11	5	42	5	CLDN11	3	170136894	Missense_Mutation	SNP	A	TCGA-36-1575-01A-01W-0615-10	132813431	170136894	27885536	11	20631											
GC	2638	hgsc.bcm.edu	37	4	72629165	72629165	+	Missense_Mutation	SNP	A	A	T			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr4:72629165A>T	ENST00000273951.8	-	6	1004	c.661T>A	c.(661-663)Tca>Aca	p.S221T	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.S221T|GC_ENST00000504199.1_Missense_Mutation_p.S240T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	221	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.S221T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GCATATTGTGAGCAGACTCTA	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											116	109	111					4																	72629165		2203	4300	6503	72848029	SO:0001583	missense	2638			L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.661T>A	4.37:g.72629165A>T	ENSP00000273951:p.Ser221Thr		72848029	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342174	0.81911	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.73152	-0.72;-0.72;-0.72	5.72	5.72	0.89469	.	0.341929	0.28273	N	0.015948	T	0.82107	0.4965	M	0.72894	2.215	0.36621	D	0.87576	D;D	0.71674	0.959;0.998	P;D	0.87578	0.874;0.998	D	0.86353	0.1712	10	0.66056	D	0.02	.	11.6415	0.51235	0.8516:0.1483:0.0:0.0	.	240;221	D6RAK8;D6RF35	.;.	T	221;240;221	ENSP00000273951:S221T;ENSP00000421725:S240T;ENSP00000426683:S221T	ENSP00000273951:S221T	S	-	1	0	GC	72848029	0.998000	0.40836	0.982000	0.44146	0.978000	0.69477	4.005000	0.57075	2.176000	0.68965	0.533000	0.62120	TCA		0.368	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			T	72629165	A	T	72629165	3	4	378	1	0	0	0	0	1	0	0	0	6282	304	11	5	791	5	GC	4	72629165	Missense_Mutation	SNP	A	TCGA-36-1575-01A-01W-0615-10		72629165	118525111	12	20632											
STK10	6793	hgsc.bcm.edu	37	5	171491796	171491796	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr5:171491796C>A	ENST00000176763.5	-	13	2353	c.2010G>T	c.(2008-2010)aaG>aaT	p.K670N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	670					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.K670N(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCGGGGGAGCTTCTCCACCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	5											158	136	143					5																	171491796		2203	4300	6503	171424401	SO:0001583	missense	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2010G>T	5.37:g.171491796C>A	ENSP00000176763:p.Lys670Asn		171424401	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618410	0.66787	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.36699	1.24	5.06	2.97	0.34412	.	0.112312	0.64402	D	0.000018	T	0.45256	0.1333	M	0.70275	2.135	0.49915	D	0.999835	P	0.42620	0.785	P	0.53360	0.724	T	0.37842	-0.9688	10	0.46703	T	0.11	.	4.5307	0.12004	0.0:0.5914:0.0:0.4086	.	670	O94804	STK10_HUMAN	N	670	ENSP00000176763:K670N	ENSP00000176763:K670N	K	-	3	2	STK10	171424401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.033000	0.30191	1.114000	0.41781	0.650000	0.86243	AAG		0.562	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		A	171491796	C	A	171491796	3	1	378	1	0	0	0	0	1	0	0	0	15288	796	28	3	924	3	STK10	5	171491796	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10		171491796	9423464	13	20633											
GCNT2	2651	hgsc.bcm.edu	37	6	10557283	10557283	+	Intron	SNP	A	A	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr6:10557283A>G	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Silent_p.K209K			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.K209K(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAGGATTTAAAGGTAAAAATA	0.473																																																1	Substitution - coding silent(1)	ovary(1)	6											63	64	64					6																	10557283		2203	4300	6503	10665269	SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27214A>G	6.37:g.10557283A>G			10665269		Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																				0.473	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		G	10557283	A	G	10557283	1	3	378	0	1	0	0	0	0	0	0	0	6301	69	3	4		4	GCNT2	6	10557283	Intron	SNP	A	TCGA-36-1575-01A-01W-0615-10		10557283	160557784	14	20634											
KHDRBS2	202559	hgsc.bcm.edu	37	6	62995810	62995810	+	Missense_Mutation	SNP	T	T	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr6:62995810T>G	ENST00000281156.4	-	1	322	c.44A>C	c.(43-45)gAt>gCt	p.D15A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.D15A(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATCCAGGCTATCTTTCTCTGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	6											140	104	116					6																	62995810		2203	4300	6503	63053769	SO:0001583	missense	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.44A>C	6.37:g.62995810T>G	ENSP00000281156:p.Asp15Ala		63053769	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009996	0.54361	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.45668	0.89	5.41	5.41	0.78517	.	0.150212	0.64402	D	0.000014	T	0.25158	0.0611	L	0.60455	1.87	0.41976	D	0.990777	B	0.30406	0.278	B	0.24974	0.057	T	0.20538	-1.0272	10	0.62326	D	0.03	.	11.8551	0.52433	0.0:0.0:0.0:1.0	.	15	Q5VWX1	KHDR2_HUMAN	A	15	ENSP00000281156:D15A	ENSP00000281156:D15A	D	-	2	0	KHDRBS2	63053769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.196000	0.72094	2.057000	0.61298	0.454000	0.30748	GAT		0.587	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		G	62995810	T	G	62995810	3	3	378	1	0	0	0	0	1	0	0	0	8147	1435	50	5	1041	5	KHDRBS2	6	62995810	Missense_Mutation	SNP	T	TCGA-36-1575-01A-01W-0615-10	52438527	62995810	108119257	15	20635											
SMOC2	64094	hgsc.bcm.edu	37	6	169051444	169051444	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr6:169051444C>A	ENST00000356284.2	+	10	1211	c.991C>A	c.(991-993)Ccc>Acc	p.P331T	SMOC2_ENST00000354536.5_Missense_Mutation_p.P342T	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	331					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.P342T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGCCTCCGACCCCTCCTCCTC	0.552																																																1	Substitution - Missense(1)	ovary(1)	6											50	40	44					6																	169051444		2203	4300	6503	168793369	SO:0001583	missense	64094			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.991C>A	6.37:g.169051444C>A	ENSP00000348630:p.Pro331Thr		168793369	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881561	0.33255	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593	T;T	0.35605	1.31;1.3	4.11	4.11	0.48088	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000002	T	0.32645	0.0836	L	0.34521	1.04	0.44579	D	0.997543	B;D	0.76494	0.408;0.999	P;D	0.73380	0.561;0.98	T	0.04140	-1.0974	10	0.25751	T	0.34	-9.7604	11.7229	0.51693	0.0:0.8214:0.1786:0.0	.	331;342	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	T	331;342;331;8;8	ENSP00000348630:P331T;ENSP00000346537:P342T	ENSP00000346537:P342T	P	+	1	0	SMOC2	168793369	1.000000	0.71417	0.563000	0.28383	0.243000	0.25628	4.196000	0.58407	1.995000	0.58328	0.455000	0.32223	CCC		0.552	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			A	169051444	C	A	169051444	3	1	378	1	0	0	0	0	1	0	0	0	14805	623	22	3	1062	3	SMOC2	6	169051444	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10	106055634	169051444	2063623	16	20636											
NPC1L1	29881	hgsc.bcm.edu	37	7	44560365	44560365	+	Splice_Site	SNP	T	T	C			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr7:44560365T>C	ENST00000289547.4	-	14	3190	c.3135A>G	c.(3133-3135)ttA>ttG	p.L1045L	NPC1L1_ENST00000381160.3_Splice_Site_p.L1045L|NPC1L1_ENST00000546276.1_Splice_Site_p.L999L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1045					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.L1045L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CATGCTTACCTAAAACCTGGC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	7											89	79	82					7																	44560365		2203	4300	6503	44526890	SO:0001630	splice_region_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3136+1A>G	7.37:g.44560365T>C			44526890	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	CCDS5491.1																																																																																				0.562	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	Silent	C	44560365	T	C	44560365	5	2	378	1	0	0	0	0	0	0	1	0	10571	1536	53	4	972	4	NPC1L1	7	44560365	Splice_Site	SNP	T	TCGA-36-1575-01A-01W-0615-10		44560365	114578298	17	20637											
ADAM9	8754	hgsc.bcm.edu	37	8	38928859	38928859	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr8:38928859C>A	ENST00000487273.2	+	15	1712	c.1634C>A	c.(1633-1635)tCt>tAt	p.S545Y		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	545	Cys-rich.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.S545Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GAAGTGAATTCTAAAGGTGAC	0.363																																																1	Substitution - Missense(1)	ovary(1)	8											122	118	119					8																	38928859		2203	4300	6503	39048016	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1634C>A	8.37:g.38928859C>A	ENSP00000419446:p.Ser545Tyr		39048016	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632655	0.67015	.	.	ENSG00000168615	ENST00000487273	T	0.24538	1.85	5.09	5.09	0.68999	ADAM, cysteine-rich (2);	0.173729	0.50627	D	0.000109	T	0.55210	0.1906	M	0.81802	2.56	0.53688	D	0.999979	D	0.71674	0.998	D	0.72982	0.979	T	0.60495	-0.7252	10	0.66056	D	0.02	.	18.8756	0.92334	0.0:1.0:0.0:0.0	.	545	Q13443	ADAM9_HUMAN	Y	545	ENSP00000419446:S545Y	ENSP00000369249:S545Y	S	+	2	0	ADAM9	39048016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.617000	0.54181	2.533000	0.85409	0.650000	0.86243	TCT		0.363	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			A	38928859	C	A	38928859	3	1	378	1	0	0	0	0	1	0	0	0	253	913	32	3	1692	3	ADAM9	8	38928859	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10		38928859	107435163	18	20638											
RALGPS1	9649	hgsc.bcm.edu	37	9	129957370	129957370	+	Splice_Site	SNP	G	G	T			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr9:129957370G>T	ENST00000259351.5	+	12	1178	c.911G>T	c.(910-912)gGt>gTt	p.G304V	RALGPS1_ENST00000373434.1_Splice_Site_p.G304V|RALGPS1_ENST00000424082.2_Splice_Site_p.G304V	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	304					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.G304V(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CTGTTTGCAGGTCCCTCTGCT	0.632																																																1	Substitution - Missense(1)	ovary(1)	9											128	122	124					9																	129957370		2203	4300	6503	128997191	SO:0001630	splice_region_variant	9649			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.911-1G>T	9.37:g.129957370G>T			128997191	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581293	0.46006	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434	T;T;T	0.32988	1.43;1.43;1.43	4.82	2.97	0.34412	Ras guanine nucleotide exchange factor, domain (1);	0.107097	0.64402	D	0.000006	T	0.46112	0.1376	L	0.56769	1.78	0.80722	D	1	P;D;D	0.89917	0.945;0.998;1.0	P;D;D	0.71414	0.459;0.962;0.973	T	0.24764	-1.0151	9	.	.	.	.	9.6484	0.39881	0.08:0.142:0.778:0.0	.	304;304;304	E9PBQ5;Q5JS13-2;Q5JS13	.;.;RGPS1_HUMAN	V	304	ENSP00000259351:G304V;ENSP00000415630:G304V;ENSP00000362533:G304V	.	G	+	2	0	RALGPS1	128997191	1.000000	0.71417	0.993000	0.49108	0.400000	0.30750	4.830000	0.62745	0.563000	0.29222	0.555000	0.69702	GGT		0.632	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636	Missense_Mutation	T	129957370	G	T	129957370	5	4	378	1	0	0	0	0	0	0	1	0	13020	1275	44	3	953	3	RALGPS1	9	129957370	Splice_Site	SNP	G	TCGA-36-1575-01A-01W-0615-10		129957370	11256061	19	20639											
PLXDC2	84898	hgsc.bcm.edu	37	10	20432305	20432305	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr10:20432305C>T	ENST00000377252.4	+	5	1464	c.623C>T	c.(622-624)cCc>cTc	p.P208L	PLXDC2_ENST00000377242.3_Missense_Mutation_p.P159L|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	208					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P208L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AATTTCGATCCCAGTGTATCC	0.358																																																1	Substitution - Missense(1)	ovary(1)	10											153	147	149					10																	20432305		2203	4300	6503	20472311	SO:0001583	missense	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.623C>T	10.37:g.20432305C>T	ENSP00000366460:p.Pro208Leu		20472311	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687288	0.88639	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	D;D	0.82081	-1.57;-1.57	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.85150	0.5631	L	0.48362	1.52	0.80722	D	1	D;P	0.52996	0.957;0.818	P;P	0.51229	0.663;0.485	D	0.84070	0.0379	10	0.42905	T	0.14	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	159;208	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	L	208;159;71;194	ENSP00000366460:P208L;ENSP00000366450:P159L	ENSP00000366446:P71L	P	+	2	0	PLXDC2	20472311	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.760000	0.85248	2.756000	0.94617	0.563000	0.77884	CCC		0.358	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		T	20432305	C	T	20432305	3	4	378	1	0	0	0	0	1	0	0	0	12118	623	22	2	641	2	PLXDC2	10	20432305	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10		20432305	115102442	20	20640											
ZNF33A	7581	hgsc.bcm.edu	37	10	38344533	38344533	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr10:38344533A>G	ENST00000458705.2	+	5	1636	c.1478A>G	c.(1477-1479)gAt>gGt	p.D493G	ZNF33A_ENST00000432900.2_Missense_Mutation_p.D500G|ZNF33A_ENST00000374618.3_Missense_Mutation_p.D494G|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.D493G			Q06730	ZN33A_HUMAN	zinc finger protein 33A	493					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.D493G(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CACATAGGAGATAAATCTTAT	0.373																																																1	Substitution - Missense(1)	ovary(1)	10											64	64	64					10																	38344533		2203	4299	6502	38384539	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1478A>G	10.37:g.38344533A>G	ENSP00000387713:p.Asp493Gly		38384539	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755960	0.49362	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	2.05	2.05	0.26809	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.554730	0.13595	N	0.376320	T	0.13927	0.0337	N	0.20445	0.575	0.31763	N	0.633067	P;P;P	0.44946	0.775;0.846;0.818	B;P;B	0.46389	0.306;0.515;0.311	T	0.14090	-1.0485	10	0.87932	D	0	.	7.6648	0.28423	1.0:0.0:0.0:0.0	.	500;493;494	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	G	494;500;493;493	ENSP00000363747:D494G;ENSP00000402467:D500G;ENSP00000387713:D493G;ENSP00000304268:D493G	ENSP00000304268:D493G	D	+	2	0	ZNF33A	38384539	1.000000	0.71417	0.931000	0.37212	0.946000	0.59487	5.937000	0.70162	0.923000	0.37045	0.377000	0.23210	GAT		0.373	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		G	38344533	A	G	38344533	3	3	378	1	0	0	0	0	1	0	0	0	17854	333	12	4	1495	4	ZNF33A	10	38344533	Missense_Mutation	SNP	A	TCGA-36-1575-01A-01W-0615-10	17912228	38344533	97190214	21	20641											
WNT11	7481	hgsc.bcm.edu	37	11	75898143	75898143	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr11:75898143C>T	ENST00000322563.3	-	5	1155	c.1031G>A	c.(1030-1032)tGt>tAt	p.C344Y		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	344					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)	p.C344Y(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGTACGCTCACACCTGCGGCA	0.642																																																2	Substitution - Missense(2)	ovary(2)	11											123	90	101					11																	75898143		2200	4292	6492	75575791	SO:0001583	missense	7481			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.1031G>A	11.37:g.75898143C>T	ENSP00000325526:p.Cys344Tyr		75575791	B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371850	0.82573	.	.	ENSG00000085741	ENST00000322563	D	0.84146	-1.81	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.94735	0.8301	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96231	0.9168	10	0.87932	D	0	.	17.3486	0.87316	0.0:1.0:0.0:0.0	.	344	O96014	WNT11_HUMAN	Y	344	ENSP00000325526:C344Y	ENSP00000325526:C344Y	C	-	2	0	WNT11	75575791	1.000000	0.71417	0.898000	0.35279	0.925000	0.55904	7.705000	0.84606	2.515000	0.84797	0.305000	0.20034	TGT		0.642	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		T	75898143	C	T	75898143	3	4	378	1	0	0	0	0	1	0	0	0	17384	478	17	2	37	2	WNT11	11	75898143	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10		75898143	59108373	22	20642											
TAS2R42	353164	hgsc.bcm.edu	37	12	11338877	11338877	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr12:11338877C>G	ENST00000334266.1	-	1	666	c.667G>C	c.(667-669)Gac>Cac	p.D223H		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	223					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D223H(1)		breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			GTGCTGGAGTCTCTAGAGCCC	0.423																																					Melanoma(15;352 722 10077 19546 48810)											1	Substitution - Missense(1)	ovary(1)	12											68	72	71					12																	11338877		2203	4298	6501	11230144	SO:0001583	missense	353164			AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.667G>C	12.37:g.11338877C>G	ENSP00000334050:p.Asp223His		11230144	A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617399	0.14129	.	.	ENSG00000186136	ENST00000334266	T	0.01126	5.3	3.47	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.471226	0.19520	N	0.112294	T	0.08935	0.0221	H	0.94734	3.575	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04216	-1.0968	10	0.87932	D	0	.	8.7384	0.34543	0.0:0.7661:0.2339:0.0	.	223	Q7RTR8	T2R42_HUMAN	H	223	ENSP00000334050:D223H	ENSP00000334050:D223H	D	-	1	0	TAS2R42	11230144	0.157000	0.22836	0.016000	0.15963	0.045000	0.14185	2.064000	0.41432	0.809000	0.34255	-0.302000	0.09304	GAC		0.423	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		G	11338877	C	G	11338877	3	3	378	1	0	0	0	0	1	0	0	0	15580	913	32	3	281	3	TAS2R42	12	11338877	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10		11338877	122513018	23	20643											
HTR2A	3356	hgsc.bcm.edu	37	13	47409726	47409726	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr13:47409726A>G	ENST00000378688.4	-	3	793	c.662T>C	c.(661-663)gTc>gCc	p.V221A	HTR2A_ENST00000543956.1_Missense_Mutation_p.V137A|HTR2A_ENST00000542664.1_Missense_Mutation_p.V221A			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	221					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V221A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTCCTTAAAGACCTTCGAATC	0.403																																																1	Substitution - Missense(1)	ovary(1)	13											68	67	67					13																	47409726		2203	4300	6503	46307727	SO:0001583	missense	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.662T>C	13.37:g.47409726A>G	ENSP00000367959:p.Val221Ala		46307727	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550057	0.86127	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.65364	-0.15;-0.15;-0.15	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	L	0.39467	1.215	0.80722	D	1	P;P	0.50528	0.936;0.866	P;P	0.49528	0.614;0.507	T	0.56019	-0.8048	10	0.16896	T	0.51	.	15.8323	0.78764	1.0:0.0:0.0:0.0	.	137;221	F5GWE8;P28223	.;5HT2A_HUMAN	A	221;137;221	ENSP00000367959:V221A;ENSP00000441861:V137A;ENSP00000437737:V221A	ENSP00000367959:V221A	V	-	2	0	HTR2A	46307727	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	GTC		0.403	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		G	47409726	A	G	47409726	3	3	378	1	0	0	0	0	1	0	0	0	7441	275	10	4	757	4	HTR2A	13	47409726	Missense_Mutation	SNP	A	TCGA-36-1575-01A-01W-0615-10		47409726	67760152	24	20644											
AP1G1	164	hgsc.bcm.edu	37	16	71772879	71772879	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr16:71772879A>G	ENST00000299980.4	-	21	2675	c.2234T>C	c.(2233-2235)aTg>aCg	p.M745T	AP1G1_ENST00000393512.3_Missense_Mutation_p.M748T|AP1G1_ENST00000569748.1_Missense_Mutation_p.M745T|AP1G1_ENST00000433195.2_Missense_Mutation_p.M768T|AP1G1_ENST00000564155.1_Missense_Mutation_p.M170T|AP1G1_ENST00000423132.2_Missense_Mutation_p.M748T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	745	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.M745T(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AAAGTCCGTCATATCTAGCTC	0.398																																																1	Substitution - Missense(1)	ovary(1)	16											193	170	178					16																	71772879		2198	4300	6498	70330380	SO:0001583	missense	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2234T>C	16.37:g.71772879A>G	ENSP00000299980:p.Met745Thr		70330380	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314170	0.81358	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.29	5.29	0.74685	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	L	0.56769	1.78	0.80722	D	1	P;P;B	0.41265	0.744;0.744;0.202	P;P;B	0.52066	0.689;0.689;0.44	T	0.62859	-0.6765	10	0.72032	D	0.01	-13.6756	15.2262	0.73354	1.0:0.0:0.0:0.0	.	745;768;748	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	T	745;748;748;768	ENSP00000299980:M745T;ENSP00000377148:M748T;ENSP00000409153:M748T;ENSP00000403259:M768T	ENSP00000299980:M745T	M	-	2	0	AP1G1	70330380	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	1.996000	0.58369	0.528000	0.53228	ATG		0.398	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			G	71772879	A	G	71772879	3	3	378	1	0	0	0	0	1	0	0	0	732	217	8	4	246	4	AP1G1	16	71772879	Missense_Mutation	SNP	A	TCGA-36-1575-01A-01W-0615-10		71772879	18581874	25	20645											
FBXO31	79791	hgsc.bcm.edu	37	16	87393970	87393970	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr16:87393970A>G	ENST00000311635.7	-	2	355	c.343T>C	c.(343-345)Tat>Cat	p.Y115H	RP11-178L8.9_ENST00000602779.1_RNA	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	115					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)	p.Y115H(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAAACACCATACTCTGTAACA	0.483																																																1	Substitution - Missense(1)	ovary(1)	16											103	92	96					16																	87393970		2198	4300	6498	85951471	SO:0001583	missense	79791			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.343T>C	16.37:g.87393970A>G	ENSP00000310841:p.Tyr115His		85951471	Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626959	0.87560	.	.	ENSG00000103264	ENST00000311635	T	0.55760	0.5	5.64	5.64	0.86602	F-box domain, Skp2-like (1);	0.056883	0.64402	D	0.000001	T	0.55545	0.1927	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63877	0.897;0.919	T	0.63603	-0.6600	10	0.87932	D	0	-22.1402	15.8578	0.78994	1.0:0.0:0.0:0.0	.	115;7	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	H	115	ENSP00000310841:Y115H	ENSP00000310841:Y115H	Y	-	1	0	FBXO31	85951471	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.536000	0.82023	2.147000	0.66899	0.533000	0.62120	TAT		0.483	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		G	87393970	A	G	87393970	3	3	378	1	0	0	0	0	1	0	0	0	5741	391	14	4	1308	4	FBXO31	16	87393970	Missense_Mutation	SNP	A	TCGA-36-1575-01A-01W-0615-10	15621091	87393970	2960783	26	20646											
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	378	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10		7577120	73618090	27	20647											
AOC2	314	hgsc.bcm.edu	37	17	40997689	40997690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr17:40997689_40997690insG	ENST00000253799.3	+	1	1073_1074	c.1046_1047insG	c.(1045-1050)cagggtfs	p.QG349fs	AOC2_ENST00000452774.2_Frame_Shift_Ins_p.QG349fs	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	349					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.E351fs*1(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTTCGGTTCCAGGGTGAGCGAA	0.505																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								38251216	SO:0001589	frameshift_variant	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1049dupG	17.37:g.40997692_40997692dupG	ENSP00000253799:p.Gln349fs		38251215	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Frame_Shift_Ins	INS	ENST00000253799.3	37	CCDS11443.1																																																																																				0.505	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		G	40997690	-	G	40997689	7	5	378	1	0	1	1	0	0	0	0	0	727	188	7	0	1048	0	AOC2	17	40997689	Frame_Shift_Ins	INS	-	TCGA-36-1575-01A-01W-0615-10	33420569	40997689	40197521	28	20648											
C18orf1	753	hgsc.bcm.edu	37	18	13621197	13621197	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr18:13621197A>G	ENST00000359446.5	+	4	731	c.263A>G	c.(262-264)cAc>cGc	p.H88R	LDLRAD4_ENST00000361205.4_Missense_Mutation_p.H88R|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.H51R|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.H51R|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.H11R|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.H88R	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	88					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.H88R(1)									CTGCTGAACCACTACAAAGTC	0.632																																																1	Substitution - Missense(1)	ovary(1)	18											180	135	150					18																	13621197		2203	4300	6503	13611197	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.263A>G	18.37:g.13621197A>G	ENSP00000352420:p.His88Arg		13611197	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	A	31	5.093675	0.94149	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.29917	1.55;1.67	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	M	0.80746	2.51	0.80722	D	1	D;D;D;D;B;B	0.71674	0.996;0.998;0.996;0.998;0.027;0.034	D;D;D;D;B;B	0.81914	0.99;0.995;0.99;0.995;0.04;0.025	T	0.62305	-0.6882	10	0.54805	T	0.06	0.3969	15.4034	0.74858	1.0:0.0:0.0:0.0	.	30;30;51;51;88;88	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	R	88;88;51;51;30;30	ENSP00000354753:H88R;ENSP00000382741:H88R	ENSP00000352420:H51R	H	+	2	0	C18orf1	13611197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.947000	0.75959	2.137000	0.66172	0.533000	0.62120	CAC		0.632	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		G	13621197	A	G	13621197	3	3	378	1	0	0	0	0	1	0	0	0	1894	159	6	4	354	4	C18orf1	18	13621197	Missense_Mutation	SNP	A	TCGA-36-1575-01A-01W-0615-10		13621197	64456051	29	20649											
MC2R	4158	hgsc.bcm.edu	37	18	13884979	13884979	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr18:13884979G>A	ENST00000327606.3	-	2	719	c.539C>T	c.(538-540)tCg>tTg	p.S180L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	180					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.S180L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGGGAACAGCGACGTGAAGGT	0.572																																					Colon(141;1584 1782 35999 48227 48692)											1	Substitution - Missense(1)	ovary(1)	18	GRCh37	CM057717	MC2R	M							156	129	138					18																	13884979		2203	4300	6503	13874979	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.539C>T	18.37:g.13884979G>A	ENSP00000333821:p.Ser180Leu		13874979	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038010	0.35989	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.31510	1.49	5.28	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.362753	0.26875	N	0.022060	T	0.27384	0.0672	M	0.67700	2.07	0.09310	N	1	B	0.33940	0.433	B	0.27608	0.081	T	0.36114	-0.9761	10	0.72032	D	0.01	.	6.26	0.20895	0.3436:0.0:0.6564:0.0	.	180	Q01718	ACTHR_HUMAN	L	180	ENSP00000333821:S180L	ENSP00000333821:S180L	S	-	2	0	MC2R	13874979	0.012000	0.17670	0.006000	0.13384	0.827000	0.46813	1.989000	0.40707	1.160000	0.42584	0.655000	0.94253	TCG		0.572	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			A	13884979	G	A	13884979	3	1	378	1	0	0	0	0	1	0	0	0	9364	1059	37	1	358	1	MC2R	18	13884979	Missense_Mutation	SNP	G	TCGA-36-1575-01A-01W-0615-10	263782	13884979	64192269	30	20650											
NR2C2AP	126382	hgsc.bcm.edu	37	19	19313199	19313199	+	Missense_Mutation	SNP	C	C	T	rs189316493		TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr19:19313199C>T	ENST00000331552.7	-	4	607	c.244G>A	c.(244-246)Ggc>Agc	p.G82S	NR2C2AP_ENST00000538165.2_Missense_Mutation_p.G82S|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.G82S|NR2C2AP_ENST00000544883.1_Silent_p.R46R	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	82					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)		p.G82S(1)		breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			GCCTGAGTGCCCTGTGAACCT	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		18954	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19											160	163	162					19																	19313199		2203	4300	6503	19174199	SO:0001583	missense	126382			AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"TR4 orphan receptor associated protein TRA16"	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.244G>A	19.37:g.19313199C>T	ENSP00000332823:p.Gly82Ser		19174199	A6NGP7|B4DW92	Missense_Mutation	SNP	ENST00000331552.7	37	CCDS32967.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.97	1.797728	0.31777	.	.	ENSG00000184162	ENST00000331552;ENST00000420605	D;D	0.98178	-4.77;-4.77	5.16	0.272	0.15645	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.325064	0.32593	N	0.005898	D	0.94479	0.8223	L	0.44542	1.39	0.80722	D	1	B	0.11235	0.004	B	0.17433	0.018	D	0.87020	0.2128	10	0.29301	T	0.29	-18.2012	4.5983	0.12341	0.0:0.4499:0.3463:0.2038	.	82	Q86WQ0	NR2CA_HUMAN	S	82	ENSP00000332823:G82S;ENSP00000402756:G82S	ENSP00000332823:G82S	G	-	1	0	NR2C2AP	19174199	0.000000	0.05858	0.003000	0.11579	0.059000	0.15707	0.427000	0.21379	0.300000	0.22699	0.462000	0.41574	GGC		0.582	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		T	19313199	C	T	19313199	3	4	378	1	0	0	0	0	1	0	0	0	10624	623	22	2	183	2	NR2C2AP	19	19313199	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10		19313199	39815784	31	20651											
NPHS1	4868	hgsc.bcm.edu	37	19	36333305	36333305	+	Missense_Mutation	SNP	G	G	A	rs142956465		TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chr19:36333305G>A	ENST00000378910.5	-	18	2481	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	NPHS1_ENST00000353632.6_Missense_Mutation_p.R828W	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	828	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R828W(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGAGCAGCCGTCGTGCTGGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											70	63	65					19																	36333305		2203	4300	6503	41025145	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2482C>T	19.37:g.36333305G>A	ENSP00000368190:p.Arg828Trp		41025145	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.70	2.613337	0.46631	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.13657	2.57;2.57	4.24	2.12	0.27331	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.389589	0.25361	N	0.031234	T	0.11452	0.0279	L	0.34521	1.04	0.22996	N	0.998451	P	0.47762	0.9	P	0.45946	0.498	T	0.09840	-1.0656	10	0.66056	D	0.02	-17.0327	5.413	0.16358	0.0:0.6779:0.2114:0.1108	.	828	O60500	NPHN_HUMAN	W	828	ENSP00000368190:R828W;ENSP00000343634:R828W	ENSP00000343634:R828W	R	-	1	2	NPHS1	41025145	0.988000	0.35896	1.000000	0.80357	0.595000	0.36748	1.647000	0.37260	1.167000	0.42706	-0.241000	0.12123	CGG		0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			A	36333305	G	A	36333305	3	1	378	1	0	0	0	0	1	0	0	0	10582	1144	40	1	1291	1	NPHS1	19	36333305	Missense_Mutation	SNP	G	TCGA-36-1575-01A-01W-0615-10	17020106	36333305	22795678	32	20652											
KDM5C	8242	hgsc.bcm.edu	37	X	53246446	53246446	+	Missense_Mutation	SNP	C	C	T	rs201805773		TCGA-36-1575-01A-01W-0615-10	TCGA-36-1575-10A-01W-0615-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d1dac91f-f98e-4271-a3aa-ce7b50ab5e3c	ff9e47fa-c8b6-4005-b0ba-c9abf59752ca	g.chrX:53246446C>T	ENST00000375401.3	-	5	1068	c.536G>A	c.(535-537)cGt>cAt	p.R179H	KDM5C_ENST00000404049.3_Missense_Mutation_p.R178H|KDM5C_ENST00000375379.3_Missense_Mutation_p.R179H|KDM5C_ENST00000452825.3_Missense_Mutation_p.R112H|KDM5C_ENST00000375383.3_Missense_Mutation_p.R138H|KDM5C-IT1_ENST00000412242.1_RNA	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	179					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R179H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATCAAATGGACGTGTGTTACA	0.537			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Substitution - Missense(1)	ovary(1)	X						C	HIS/ARG,HIS/ARG	0,3835		0,0,0,1632,571	158	101	120		335,536	5.3	1	X		120	3,6725		0,2,1,2426,1871	yes	missense,missense	KDM5C	NM_001146702.1,NM_004187.3	29,29	0,2,1,4058,2442	TT,TC,T,CC,C		0.0446,0.0,0.0284	benign,benign	112/1380,179/1561	53246446	3,10560	2203	4300	6503	53263171	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.536G>A	X.37:g.53246446C>T	ENSP00000364550:p.Arg179His		53263171	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135536	0.37728	0.0	4.46E-4	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;D;T;T	0.84070	-0.01;-0.01;-1.8;-0.01;-0.01	5.32	5.32	0.75619	ARID/BRIGHT DNA-binding domain (2);	0.634787	0.15016	N	0.285270	T	0.72479	0.3465	N	0.17674	0.51	0.41923	D	0.990528	B;B;B	0.13145	0.007;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.66606	-0.5881	10	0.31617	T	0.26	-4.9324	13.3961	0.60853	0.0:1.0:0.0:0.0	.	112;178;179	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	H	112;179;178;179;138	ENSP00000445176:R112H;ENSP00000364550:R179H;ENSP00000385394:R178H;ENSP00000364528:R179H;ENSP00000364532:R138H	ENSP00000364528:R179H	R	-	2	0	KDM5C	53263171	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	2.140000	0.42159	2.226000	0.72624	0.529000	0.55759	CGT		0.537	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		T	53246446	C	T	53246446	3	4	378	1	0	0	0	0	1	0	0	0	8135	536	19	1	4332	1	KDM5C	23	53246446	Missense_Mutation	SNP	C	TCGA-36-1575-01A-01W-0615-10		53246446	102024114	33	20653											
PIGK	10026	hgsc.bcm.edu	37	1	77627339	77627339	+	Silent	SNP	T	T	G			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr1:77627339T>G	ENST00000370812.3	-	7	665	c.642A>C	c.(640-642)cgA>cgC	p.R214R	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Silent_p.R138R|PIGK_ENST00000445065.1_Silent_p.R120R|PIGK_ENST00000359130.1_Silent_p.R214R	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	214					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)	p.R214R(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GAGAATAAAATCGTTCATACA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	1											109	101	104					1																	77627339		2203	4300	6503	77399927	SO:0001819	synonymous_variant	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"Phosphatidylinositol glycan anchor biosynthesis"	8965	protein-coding gene	gene with protein product	"GPI transamidase subunit"	605087	"phosphatidylinositol glycan, class K"			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.642A>C	1.37:g.77627339T>G			77399927	B2R7K3|B4E2M3|O14822|Q5TG77	Silent	SNP	ENST00000370812.3	37	CCDS674.1																																																																																				0.373	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		G	77627339	T	G	77627339	2	3	379	1	0	0	0	0	0	0	0	1	11890	1422	50	5		5	PIGK	1	77627339	Silent	SNP	T	TCGA-36-1576-01A-01W-0615-10		77627339	171623282	1	20654											
RFC1	5981	hgsc.bcm.edu	37	4	39301643	39301643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr4:39301643G>A	ENST00000381897.1	-	21	2942	c.2809C>T	c.(2809-2811)Cag>Tag	p.Q937*	RNU6-32P_ENST00000383948.1_RNA|RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q936*	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	937					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.Q936*(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCTCACCTGCGCAGGCAGA	0.453																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											1	Substitution - Nonsense(1)	ovary(1)	4											71	67	69					4																	39301643		2203	4300	6503	38978038	SO:0001587	stop_gained	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2809C>T	4.37:g.39301643G>A	ENSP00000371321:p.Gln937*		38978038	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Nonsense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	39	7.569013	0.98365	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	.	.	.	6.01	6.01	0.97437	.	0.056486	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.8493	20.5109	0.99210	0.0:0.0:1.0:0.0	.	.	.	.	X	937;936	.	ENSP00000261424:Q936X	Q	-	1	0	RFC1	38978038	1.000000	0.71417	0.998000	0.56505	0.328000	0.28507	7.847000	0.86896	2.851000	0.98039	0.609000	0.83330	CAG		0.453	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		A	39301643	G	A	39301643	4	1	379	1	0	0	0	0	0	1	0	0	13247	1328	46	2	657	2	RFC1	4	39301643	Nonsense_Mutation	SNP	G	TCGA-36-1576-01A-01W-0615-10		39301643	151852633	2	20655											
ENTPD1	953	hgsc.bcm.edu	37	10	97599541	97599541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr10:97599541C>T	ENST00000371205.4	+	3	521	c.238C>T	c.(238-240)Caa>Taa	p.Q80*	ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q92*|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q87*|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	80					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.Q80E(1)|p.Q80*(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CGTGGTGCATCAAGTAGAAGA	0.473																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|lung(1)	10											160	150	153					10																	97599541		2203	4300	6503	97589531	SO:0001587	stop_gained	953			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.238C>T	10.37:g.97599541C>T	ENSP00000360248:p.Gln80*		97589531	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Nonsense_Mutation	SNP	ENST00000371205.4	37	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813843	0.90790	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000371205	.	.	.	5.51	4.61	0.57282	.	0.105503	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-11.3167	13.6343	0.62213	0.0:0.8236:0.1764:0.0	.	.	.	.	X	87;87;92;80	.	ENSP00000360248:Q80X	Q	+	1	0	ENTPD1	97589531	0.998000	0.40836	0.127000	0.21898	0.766000	0.43426	3.808000	0.55598	1.555000	0.49500	0.557000	0.71058	CAA		0.473	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		T	97599541	C	T	97599541	4	4	379	1	0	0	0	0	0	1	0	0	5138	827	29	2	345	2	ENTPD1	10	97599541	Nonsense_Mutation	SNP	C	TCGA-36-1576-01A-01W-0615-10		97599541	37935206	3	20656											
MED19	219541	hgsc.bcm.edu	37	11	57472563	57472563	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr11:57472563G>A	ENST00000431606.2	-	2	385	c.356C>T	c.(355-357)cCt>cTt	p.P119L	MED19_ENST00000337672.2_Missense_Mutation_p.P119L			A0JLT2	MED19_HUMAN	mediator complex subunit 19	119						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P119L(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						ATGGGAACCAGGCAGATCAAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											107	104	105					11																	57472563		2201	4296	6497	57229139	SO:0001583	missense	219541			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.356C>T	11.37:g.57472563G>A	ENSP00000416227:p.Pro119Leu		57229139	Q8IV02|Q8IZD1	Missense_Mutation	SNP	ENST00000431606.2	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.832068	0.91036	.	.	ENSG00000156603	ENST00000337672;ENST00000431606	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.975;1.0	P;D	0.91635	0.487;0.999	D	0.85618	0.1262	9	0.66056	D	0.02	-11.3221	18.8972	0.92429	0.0:0.0:1.0:0.0	.	119;119	A0JLT2-2;A0JLT2	.;MED19_HUMAN	L	119	.	ENSP00000337340:P119L	P	-	2	0	MED19	57229139	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.094000	0.94168	2.639000	0.89480	0.561000	0.74099	CCT		0.493	MED19-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000393702.1	NM_153450		A	57472563	G	A	57472563	3	1	379	1	0	0	0	0	1	0	0	0	9437	1000	35	2	240	2	MED19	11	57472563	Missense_Mutation	SNP	G	TCGA-36-1576-01A-01W-0615-10		57472563	77533953	4	20657											
CATSPER1	117144	hgsc.bcm.edu	37	11	65793355	65793355	+	Missense_Mutation	SNP	C	C	T	rs543744984		TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr11:65793355C>T	ENST00000312106.5	-	1	633	c.496G>A	c.(496-498)Gtg>Atg	p.V166M		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	166	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.V166M(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGTGGGGCACGCCAGAGGAA	0.582																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	11											57	53	54					11																	65793355		2201	4296	6497	65549931	SO:0001583	missense	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.496G>A	11.37:g.65793355C>T	ENSP00000309052:p.Val166Met		65549931	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	4.959	0.178073	0.09443	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	3.43	1.5	0.22942	.	.	.	.	.	D	0.84556	0.5498	N	0.03115	-0.41	0.09310	N	1	D	0.56287	0.975	B	0.32090	0.14	T	0.79339	-0.1844	9	0.22706	T	0.39	2.3962	8.0048	0.30319	0.0:0.7774:0.0:0.2226	.	166	Q8NEC5	CTSR1_HUMAN	M	166	ENSP00000309052:V166M	ENSP00000309052:V166M	V	-	1	0	CATSPER1	65549931	0.996000	0.38824	0.000000	0.03702	0.049000	0.14656	0.009000	0.13219	0.228000	0.21019	-0.657000	0.03884	GTG		0.582	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		T	65793355	C	T	65793355	3	4	379	1	0	0	0	0	1	0	0	0	2687	536	19	1	1894	1	CATSPER1	11	65793355	Missense_Mutation	SNP	C	TCGA-36-1576-01A-01W-0615-10	8320792	65793355	69213161	5	20658											
SACS	26278	hgsc.bcm.edu	37	13	23904819	23904819	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr13:23904819G>C	ENST00000382292.3	-	9	13469	c.13196C>G	c.(13195-13197)aCt>aGt	p.T4399S	SACS_ENST00000402364.1_Missense_Mutation_p.T3649S|SACS_ENST00000382298.3_Missense_Mutation_p.T4399S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4399					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.T4252S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTCCATGAAGTATAGAATCT	0.428																																																1	Substitution - Missense(1)	ovary(1)	13											80	83	82					13																	23904819		2203	4300	6503	22802819	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13196C>G	13.37:g.23904819G>C	ENSP00000371729:p.Thr4399Ser		22802819	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238264	0.22711	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87029	-2.05;-2.2;-2.05	5.8	5.8	0.92144	.	0.050187	0.85682	D	0.000000	T	0.79335	0.4428	N	0.16478	0.41	0.38573	D	0.950008	B	0.14438	0.01	B	0.14023	0.01	T	0.73720	-0.3894	10	0.14252	T	0.57	.	20.062	0.97678	0.0:0.0:1.0:0.0	.	4399	Q9NZJ4	SACS_HUMAN	S	4399;3649;4399	ENSP00000371729:T4399S;ENSP00000385844:T3649S;ENSP00000371735:T4399S	ENSP00000371729:T4399S	T	-	2	0	SACS	22802819	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.863000	0.87023	2.730000	0.93505	0.563000	0.77884	ACT		0.428	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23904819	G	C	23904819	3	2	379	1	0	0	0	0	1	0	0	0	13807	1029	36	3	547	3	SACS	13	23904819	Missense_Mutation	SNP	G	TCGA-36-1576-01A-01W-0615-10		23904819	91265059	6	20659											
TSHR	7253	hgsc.bcm.edu	37	14	81609347	81609347	+	Silent	SNP	G	G	C			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr14:81609347G>C	ENST00000541158.2	+	11	1267	c.945G>C	c.(943-945)gtG>gtC	p.V315V	TSHR_ENST00000298171.2_Silent_p.V315V|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	315					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.V315V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GAAAATCTGTGAATGCCTTGA	0.473			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	1	Substitution - coding silent(1)	ovary(1)	14											132	128	129					14																	81609347		2203	4300	6503	80679100	SO:0001819	synonymous_variant	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.945G>C	14.37:g.81609347G>C			80679100	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																				0.473	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		C	81609347	G	C	81609347	2	2	379	1	0	0	0	0	0	0	0	1	16622	1277	45	3		3	TSHR	14	81609347	Silent	SNP	G	TCGA-36-1576-01A-01W-0615-10		81609347	25740193	7	20660			1	14		5	5	307	G		1.498194e-17
TSHR	7253	hgsc.bcm.edu	37	14	81609409	81609409	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr14:81609409G>A	ENST00000541158.2	+	11	1329	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	TSHR_ENST00000298171.2_Missense_Mutation_p.G336E|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	336					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.G336E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGCATTGTTGGGTACAAGGAA	0.453			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	1	Substitution - Missense(1)	ovary(1)	14											175	162	166					14																	81609409		2203	4300	6503	80679162	SO:0001583	missense	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1007G>A	14.37:g.81609409G>A	ENSP00000441235:p.Gly336Glu		80679162	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	7.202	0.593624	0.13875	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.73897	-0.79;-0.79	5.78	2.74	0.32292	.	0.448378	0.26891	N	0.021976	T	0.61652	0.2364	L	0.29908	0.895	0.39566	D	0.969205	P	0.44429	0.835	P	0.45138	0.471	T	0.56565	-0.7958	10	0.27785	T	0.31	.	6.3546	0.21395	0.1514:0.0:0.4983:0.3504	.	336	F5GYU5	.	E	336	ENSP00000441235:G336E;ENSP00000298171:G336E	ENSP00000298171:G336E	G	+	2	0	TSHR	80679162	0.143000	0.22626	0.987000	0.45799	0.491000	0.33493	1.063000	0.30567	0.862000	0.35528	0.655000	0.94253	GGG		0.453	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		A	81609409	G	A	81609409	3	1	379	1	0	0	0	0	1	0	0	0	16622	1232	43	2	1182	2	TSHR	14	81609409	Missense_Mutation	SNP	G	TCGA-36-1576-01A-01W-0615-10	62	81609409	25740131	8	20661			1	14		5	5	307	G		1.498194e-17
TSHR	7253	hgsc.bcm.edu	37	14	81609546	81609546	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr14:81609546G>C	ENST00000541158.2	+	11	1466	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	TSHR_ENST00000298171.2_Missense_Mutation_p.D382H|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	382					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.D382H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACAAGCTTTTGACAGCCATTA	0.458			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	1	Substitution - Missense(1)	ovary(1)	14											469	402	425					14																	81609546		2203	4300	6503	80679299	SO:0001583	missense	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1144G>C	14.37:g.81609546G>C	ENSP00000441235:p.Asp382His		80679299	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510847	0.64522	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.76060	-0.99;-0.99	5.58	5.58	0.84498	.	0.135090	0.64402	D	0.000003	D	0.84206	0.5421	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.84374	0.0545	10	0.62326	D	0.03	.	19.9261	0.97102	0.0:0.0:1.0:0.0	.	382	F5GYU5	.	H	382	ENSP00000441235:D382H;ENSP00000298171:D382H	ENSP00000298171:D382H	D	+	1	0	TSHR	80679299	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.956000	0.87863	2.789000	0.95967	0.655000	0.94253	GAC		0.458	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		C	81609546	G	C	81609546	3	2	379	1	0	0	0	0	1	0	0	0	16622	1290	45	3	1319	3	TSHR	14	81609546	Missense_Mutation	SNP	G	TCGA-36-1576-01A-01W-0615-10	137	81609546	25739994	9	20662			1	14		5	5	307	G		1.498194e-17
TSHR	7253	hgsc.bcm.edu	37	14	81609585	81609585	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr14:81609585G>A	ENST00000541158.2	+	11	1505	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	TSHR_ENST00000298171.2_Missense_Mutation_p.D395N|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	395					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.D395N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGACAGTGAAGACATGGTGTG	0.483			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	1	Substitution - Missense(1)	ovary(1)	14											707	593	632					14																	81609585		2203	4300	6503	80679338	SO:0001583	missense	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1183G>A	14.37:g.81609585G>A	ENSP00000441235:p.Asp395Asn		80679338	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341239	0.41498	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.75938	-0.98;-0.98	5.37	3.52	0.40303	.	0.184070	0.64402	D	0.000014	T	0.60907	0.2305	N	0.25890	0.77	0.52501	D	0.999952	B	0.18166	0.026	B	0.17098	0.017	T	0.56341	-0.7995	10	0.52906	T	0.07	.	10.5629	0.45156	0.0693:0.0:0.7974:0.1333	.	395	F5GYU5	.	N	395	ENSP00000441235:D395N;ENSP00000298171:D395N	ENSP00000298171:D395N	D	+	1	0	TSHR	80679338	1.000000	0.71417	0.979000	0.43373	0.938000	0.57974	6.585000	0.74062	0.736000	0.32559	0.655000	0.94253	GAC		0.483	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		A	81609585	G	A	81609585	3	1	379	1	0	0	0	0	1	0	0	0	16622	942	33	2	1358	2	TSHR	14	81609585	Missense_Mutation	SNP	G	TCGA-36-1576-01A-01W-0615-10	39	81609585	25739955	10	20663			1	14		5	5	307	G		1.498194e-17
TSHR	7253	hgsc.bcm.edu	37	14	81609653	81609653	+	Silent	SNP	G	G	C			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr14:81609653G>C	ENST00000541158.2	+	11	1573	c.1251G>C	c.(1249-1251)ctG>ctC	p.L417L	TSHR_ENST00000298171.2_Silent_p.L417L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	417					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.L417L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACAAGTTCCTGAGAATTGTGG	0.498			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	1	Substitution - coding silent(1)	ovary(1)	14											901	749	800					14																	81609653		2203	4300	6503	80679406	SO:0001819	synonymous_variant	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1251G>C	14.37:g.81609653G>C			80679406	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	6.006	0.369588	0.11352	.	.	ENSG00000165409	ENST00000412429	.	.	.	5.88	1.8	0.24995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4579	0.11652	0.2032:0.1041:0.5764:0.1163	.	.	.	.	.	-1	.	.	.	+	.	.	TSHR	80679406	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.615000	0.36922	0.847000	0.35167	0.655000	0.94253	.		0.498	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		C	81609653	G	C	81609653	2	2	379	1	0	0	0	0	0	0	0	1	16622	1277	45	3		3	TSHR	14	81609653	Silent	SNP	G	TCGA-36-1576-01A-01W-0615-10	68	81609653	25739887	11	20664			1	14		5	5	307	G		1.498194e-17
C16orf79	283870	hgsc.bcm.edu	37	16	2259693	2259693	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr16:2259693C>A	ENST00000562360.1	-	5	452	c.453G>T	c.(451-453)tgG>tgT	p.W151C	BRICD5_ENST00000328540.3_Missense_Mutation_p.W151C|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	151	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)		p.W151C(1)									GGCTGGGGACCCAAGCCTCTT	0.692																																																1	Substitution - Missense(1)	ovary(1)	16											51	65	60					16																	2259693		2198	4300	6498	2199694	SO:0001583	missense	283870			BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.453G>T	16.37:g.2259693C>A	ENSP00000455052:p.Trp151Cys		2199694	C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	C	9.831	1.188439	0.21954	.	.	ENSG00000182685	ENST00000328540	T	0.78595	-1.19	5.82	-11.6	0.00059	BRICHOS (2);	2.571080	0.00744	N	0.001031	T	0.55081	0.1898	.	.	.	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39210	-0.9625	9	0.38643	T	0.18	-0.9675	2.1204	0.03724	0.4285:0.282:0.1199:0.1696	.	151;151	Q6PL45;Q6PL45-2	CP079_HUMAN;.	C	151	ENSP00000332389:W151C	ENSP00000332389:W151C	W	-	3	0	C16orf79	2199694	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.324000	0.01116	-1.727000	0.01368	-1.083000	0.02208	TGG		0.692	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		A	2259693	C	A	2259693	3	1	379	1	0	0	0	0	1	0	0	0	1836	624	22	3	241	3	C16orf79	16	2259693	Missense_Mutation	SNP	C	TCGA-36-1576-01A-01W-0615-10		2259693	88095060	12	20665											
RRN3	54700	hgsc.bcm.edu	37	16	15159135	15159135	+	Frame_Shift_Del	DEL	C	C	-			TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr16:15159135delC	ENST00000198767.6	-	16	1730	c.1647delG	c.(1645-1647)gtgfs	p.V549fs	RRN3_ENST00000563559.1_Frame_Shift_Del_p.V549fs|RRN3_ENST00000540462.1_Frame_Shift_Del_p.V367fs|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Frame_Shift_Del_p.V516fs|RRN3_ENST00000429751.2_Frame_Shift_Del_p.V519fs	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	549	Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Q550fs*18(1)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TGCAGATCTGCACTGAGTCTC	0.502																																																1	Deletion - Frameshift(1)	ovary(1)	16											133	118	123					16																	15159135		2197	4300	6497	15066636	SO:0001589	frameshift_variant	54700			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"RRN3 RNA polymerase I transcription factor homolog (yeast)"			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1647delG	16.37:g.15159135delC	ENSP00000198767:p.Val549fs		15066636	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Frame_Shift_Del	DEL	ENST00000198767.6	37	CCDS10559.1																																																																																				0.502	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		-	15159135	C	-	15159135	7	5	379	1	0	1	0	1	0	0	0	0	13687	697	25	0	320	0	RRN3	16	15159135	Frame_Shift_Del	DEL	C	TCGA-36-1576-01A-01W-0615-10	12899442	15159135	75195618	13	20666											
SLC24A3	57419	hgsc.bcm.edu	37	20	19261705	19261705	+	Missense_Mutation	SNP	G	G	A	rs376513919		TCGA-36-1576-01A-01W-0615-10	TCGA-36-1576-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	c4c0fa4f-22bb-49b9-b037-797197f304fb	dce3ccb1-7a39-4671-86bc-40cc493660db	g.chr20:19261705G>A	ENST00000328041.6	+	2	442	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	RP5-1027G4.3_ENST00000319682.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	82					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.R82Q(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCCGGACTCCGGAACAGCAAG	0.542																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	20						G	GLN/ARG	0,4406		0,0,2203	135	113	120		245	-2.4	0	20		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC24A3	NM_020689.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	82/645	19261705	1,13005	2203	4300	6503	19209705	SO:0001583	missense	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.245G>A	20.37:g.19261705G>A	ENSP00000333519:p.Arg82Gln		19209705	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.682034	0.00745	0.0	1.16E-4	ENSG00000185052	ENST00000328041	T	0.60299	0.2	5.15	-2.38	0.06622	.	0.979057	0.08337	N	0.961507	T	0.25680	0.0625	N	0.03608	-0.345	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.16305	-1.0407	9	.	.	.	.	3.6965	0.08367	0.2599:0.0:0.2911:0.4491	.	82	Q9HC58	NCKX3_HUMAN	Q	82	ENSP00000333519:R82Q	.	R	+	2	0	SLC24A3	19209705	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	0.132000	0.15891	-0.162000	0.10964	-0.182000	0.12963	CGG		0.542	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		A	19261705	G	A	19261705	3	1	379	1	0	0	0	0	1	0	0	0	14470	1116	39	1	251	1	SLC24A3	20	19261705	Missense_Mutation	SNP	G	TCGA-36-1576-01A-01W-0615-10		19261705	43763815	14	20667											
TXNDC12	51060	hgsc.bcm.edu	37	1	52486660	52486660	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr1:52486660T>A	ENST00000371626.4	-	7	1538	c.464A>T	c.(463-465)cAg>cTg	p.Q155L	TXNDC12_ENST00000471493.1_5'Flank	NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	155					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)	p.Q155L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	CAGCCTTTCCTGAGCTTCCTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											129	113	118					1																	52486660		2203	4300	6503	52259248	SO:0001583	missense	51060			AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"Protein disulfide isomerases"	24626	protein-coding gene	gene with protein product	"endoplasmic reticulum thioredoxin superfamily member, 18 kDa", "anterior gradient homolog 1 (Xenopus laevis)", "protein disulfide isomerase family A, member 16"	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.464A>T	1.37:g.52486660T>A	ENSP00000360688:p.Gln155Leu		52259248	B3KQS0|Q5T1T4|Q96H50	Missense_Mutation	SNP	ENST00000371626.4	37	CCDS561.1	.	.	.	.	.	.	.	.	.	.	T	8.104	0.777283	0.16120	.	.	ENSG00000117862	ENST00000371626	T	0.40225	1.04	5.62	5.62	0.85841	Thioredoxin-like fold (3);	0.128326	0.53938	D	0.000045	T	0.39332	0.1074	M	0.65975	2.015	0.80722	D	1	B	0.15473	0.013	B	0.09377	0.004	T	0.31166	-0.9953	10	0.08179	T	0.78	.	14.0523	0.64745	0.0:0.0:0.0:1.0	.	155	O95881	TXD12_HUMAN	L	155	ENSP00000360688:Q155L	ENSP00000360688:Q155L	Q	-	2	0	TXNDC12	52259248	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.137000	0.71710	2.138000	0.66242	0.533000	0.62120	CAG		0.383	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023818.1	NM_015913		A	52486660	T	A	52486660	3	1	380	1	0	0	0	0	1	0	0	0	16793	1580	55	5	58	5	TXNDC12	1	52486660	Missense_Mutation	SNP	T	TCGA-36-1577-01A-01W-0615-10		52486660	196763961	1	20668											
CHML	1122	hgsc.bcm.edu	37	1	241797528	241797528	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr1:241797528G>C	ENST00000366553.1	-	1	1704	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	514					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.S514C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGTTTTAGAAGATGAACATGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											83	78	80					1																	241797528		2203	4299	6502	239864151	SO:0001583	missense	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1541C>G	1.37:g.241797528G>C	ENSP00000355511:p.Ser514Cys		239864151	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539723	0.65085	.	.	ENSG00000203668	ENST00000366553	D	0.83673	-1.75	5.08	5.08	0.68730	.	0.000000	0.85682	U	0.000000	D	0.89615	0.6766	.	.	.	0.54753	D	0.999986	D	0.69078	0.997	P	0.62382	0.901	D	0.89970	0.4093	9	0.59425	D	0.04	-13.9275	16.3808	0.83460	0.0:0.0:1.0:0.0	.	514	P26374	RAE2_HUMAN	C	514	ENSP00000355511:S514C	ENSP00000355511:S514C	S	-	2	0	CHML	239864151	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	2.468000	0.45102	2.826000	0.97356	0.655000	0.94253	TCT		0.408	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		C	241797528	G	C	241797528	3	2	380	1	0	0	0	0	1	0	0	0	3351	942	33	3	433	3	CHML	1	241797528	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	189310868	241797528	7453093	2	20669											
APOB	338	hgsc.bcm.edu	37	2	21237962	21237962	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:21237962C>T	ENST00000233242.1	-	23	3806	c.3679G>A	c.(3679-3681)Ggt>Agt	p.G1227S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1227					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G1227S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTTGGAACCCACGTGCCGG	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											101	102	102					2																	21237962		2203	4300	6503	21091467	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3679G>A	2.37:g.21237962C>T	ENSP00000233242:p.Gly1227Ser		21091467	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.045997	0.55110	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00705	5.81	5.48	4.61	0.57282	.	0.104858	0.41712	D	0.000829	T	0.01254	0.0041	M	0.65975	2.015	0.80722	D	1	P	0.35507	0.506	B	0.26864	0.074	T	0.62982	-0.6738	10	0.59425	D	0.04	.	13.7642	0.62983	0.0:0.9262:0.0:0.0738	.	1227	P04114	APOB_HUMAN	S	1227	ENSP00000233242:G1227S	ENSP00000233242:G1227S	G	-	1	0	APOB	21091467	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.282000	0.43461	1.483000	0.48342	0.650000	0.86243	GGT		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21237962	C	T	21237962	3	4	380	1	0	0	0	0	1	0	0	0	785	623	22	2	10040	2	APOB	2	21237962	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10		21237962	221961411	3	20670											
PROM2	150696	hgsc.bcm.edu	37	2	95944750	95944753	+	Frame_Shift_Del	DEL	GCCC	GCCC	-	rs537330308		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	GCCC	GCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:95944750_95944753delGCCC	ENST00000317620.9	+	10	1265_1268	c.1132_1135delGCCC	c.(1132-1137)gcccagfs	p.AQ378fs	PROM2_ENST00000403131.2_Frame_Shift_Del_p.AQ378fs|PROM2_ENST00000542147.1_Frame_Shift_Del_p.AQ378fs|PROM2_ENST00000317668.4_Frame_Shift_Del_p.AQ378fs	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	378					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.A378fs*6(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAAGGCAGTGGCCCAGCAGCCGGA	0.647																																																1	Deletion - Frameshift(1)	ovary(1)	2																																								95308480	SO:0001589	frameshift_variant	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1132_1135delGCCC	2.37:g.95944750_95944753delGCCC	ENSP00000318270:p.Ala378fs		95308477	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Frame_Shift_Del	DEL	ENST00000317620.9	37	CCDS2012.1																																																																																				0.647	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		-	95944753	GCCC	-	95944750	7	5	380	1	0	1	0	1	0	0	0	0	12559	1203	42	0	1170	0	PROM2	2	95944750	Frame_Shift_Del	DEL	GCCC	TCGA-36-1577-01A-01W-0615-10	74706788	95944750	147254623	4	20671											
RIF1	55183	hgsc.bcm.edu	37	2	152325066	152325066	+	Splice_Site	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:152325066G>C	ENST00000243326.5	+	31	7308		c.e31+1		RIF1_ENST00000430328.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000428287.2_Intron|RIF1_ENST00000444746.2_Splice_Site			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1						fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.?(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GAAGTGTTTAGTAAGAAGTGC	0.358																																																1	Unknown(1)	ovary(1)	2											155	161	159					2																	152325066		2203	4300	6503	152033312	SO:0001630	splice_region_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6825+1G>C	2.37:g.152325066G>C			152033312	A0AVS0|Q9NS16	Splice_Site	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582869	0.86748	.	.	ENSG00000080345	ENST00000444746;ENST00000243326	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6454	0.95775	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIF1	152033312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.950000	0.93019	2.736000	0.93811	0.591000	0.81541	.		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		Intron	C	152325066	G	C	152325066	5	2	380	1	0	0	0	0	0	0	1	0	13362	1043	36	3	6948	3	RIF1	2	152325066	Splice_Site	SNP	G	TCGA-36-1577-01A-01W-0615-10	56380316	152325066	90874307	5	20672											
SCN1A	6323	hgsc.bcm.edu	37	2	166903282	166903282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:166903282G>A	ENST00000303395.4	-	9	1374	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q459*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q459*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.Q459*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	459					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.Q459*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCTTTACCTGAGCTGCCTCC	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	2											91	79	83					2																	166903282		2203	4300	6503	166611528	SO:0001587	stop_gained	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1375C>T	2.37:g.166903282G>A	ENSP00000303540:p.Gln459*		166611528	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	37	6.556459	0.97663	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.31	5.31	0.75309	.	0.206675	0.35179	N	0.003386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.3428	0.94350	0.0:0.0:1.0:0.0	.	.	.	.	X	459	.	ENSP00000303540:Q459X	Q	-	1	0	SCN1A	166611528	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.827000	0.86722	2.637000	0.89404	0.655000	0.94253	CAG		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		A	166903282	G	A	166903282	4	1	380	1	0	0	0	0	0	1	0	0	13917	1299	45	2	4726	2	SCN1A	2	166903282	Nonsense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	14578216	166903282	76296091	6	20673											
LRP2	4036	hgsc.bcm.edu	37	2	170062136	170062136	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:170062136C>G	ENST00000263816.3	-	41	7853	c.7568G>C	c.(7567-7569)tGg>tCg	p.W2523S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2523					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.W2523S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CCAGTCAGCCCAGTACAGGTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											91	86	88					2																	170062136		2203	4300	6503	169770382	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7568G>C	2.37:g.170062136C>G	ENSP00000263816:p.Trp2523Ser		169770382	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387306	0.61956	.	.	ENSG00000081479	ENST00000263816	D	0.99789	-6.75	5.9	5.9	0.94986	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96651	0.9481	10	0.87932	D	0	.	20.2664	0.98460	0.0:1.0:0.0:0.0	.	2523	P98164	LRP2_HUMAN	S	2523	ENSP00000263816:W2523S	ENSP00000263816:W2523S	W	-	2	0	LRP2	169770382	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	7.818000	0.86416	2.786000	0.95864	0.561000	0.74099	TGG		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170062136	C	G	170062136	3	3	380	1	0	0	0	0	1	0	0	0	8956	595	21	3	6555	3	LRP2	2	170062136	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	3158854	170062136	73137237	7	20674											
OXSR1	9943	hgsc.bcm.edu	37	3	38265303	38265303	+	Splice_Site	SNP	G	G	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:38265303G>T	ENST00000446845.1	+	7	973	c.601G>T	c.(601-603)Gtc>Ttc	p.V201F	OXSR1_ENST00000311806.3_Splice_Site_p.V201F					oxidative stress responsive 1									p.V201F(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTTTTGCAGGTCCGTGGTTA	0.408																																																1	Substitution - Missense(1)	ovary(1)	3											95	95	95					3																	38265303		2203	4300	6503	38240307	SO:0001630	splice_region_variant	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.601-1G>T	3.37:g.38265303G>T			38240307		Missense_Mutation	SNP	ENST00000446845.1	37		.	.	.	.	.	.	.	.	.	.	G	26.8	4.771210	0.90108	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.65916	-0.18;-0.18	5.3	5.3	0.74995	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	0.67543	0.2904	N	0.20610	0.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65759	-0.6090	9	.	.	.	-12.1705	18.307	0.90185	0.0:0.0:1.0:0.0	.	201;201	C9JIG9;O95747	.;OXSR1_HUMAN	F	201	ENSP00000415851:V201F;ENSP00000311713:V201F	.	V	+	1	0	OXSR1	38240307	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.389000	0.97243	2.658000	0.90341	0.655000	0.94253	GTC		0.408	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109	Missense_Mutation	T	38265303	G	T	38265303	5	4	380	1	0	0	0	0	0	0	1	0	11336	1275	44	3	627	3	OXSR1	3	38265303	Splice_Site	SNP	G	TCGA-36-1577-01A-01W-0615-10		38265303	159757127	8	20675											
CSRNP1	64651	hgsc.bcm.edu	37	3	39186582	39186582	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:39186582G>T	ENST00000273153.5	-	3	548	c.371C>A	c.(370-372)tCt>tAt	p.S124Y	CSRNP1_ENST00000514182.1_Missense_Mutation_p.S124Y	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	124					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	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.S124Y(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTCAGCCAAAGAGAAGCGACG	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											70	62	65					3																	39186582		2203	4300	6503	39161586	SO:0001583	missense	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.371C>A	3.37:g.39186582G>T	ENSP00000273153:p.Ser124Tyr		39161586	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933237	0.73442	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.13538	2.58;2.58	5.14	5.14	0.70334	.	0.053994	0.64402	D	0.000001	T	0.36663	0.0975	M	0.62723	1.935	0.58432	D	0.999991	D	0.76494	0.999	D	0.70935	0.971	T	0.08638	-1.0712	10	0.87932	D	0	-35.4696	18.9945	0.92807	0.0:0.0:1.0:0.0	.	124	Q96S65	CSRN1_HUMAN	Y	124	ENSP00000273153:S124Y;ENSP00000422532:S124Y	ENSP00000273153:S124Y	S	-	2	0	CSRNP1	39161586	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	7.873000	0.87193	2.563000	0.86464	0.561000	0.74099	TCT		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		T	39186582	G	T	39186582	3	4	380	1	0	0	0	0	1	0	0	0	3963	942	33	3	1410	3	CSRNP1	3	39186582	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	921279	39186582	158835848	9	20676											
ANO10	55129	hgsc.bcm.edu	37	3	43474200	43474200	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:43474200T>C	ENST00000292246.3	-	12	1987	c.1817A>G	c.(1816-1818)aAg>aGg	p.K606R	ANO10_ENST00000414522.2_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.K540R|ANO10_ENST00000451430.2_Missense_Mutation_p.K495R|ANO10_ENST00000350459.4_Missense_Mutation_p.K416R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	606					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.K606R(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAGTATAAACTTTAAAGCCAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											89	84	86					3																	43474200		2203	4300	6503	43449204	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1817A>G	3.37:g.43474200T>C	ENSP00000292246:p.Lys606Arg		43449204	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	CCDS2710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.21|17.21	3.332820|3.332820	0.60853|0.60853	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000451430|ENST00000448045	T;T;T;T|.	0.69040|.	-0.37;-0.37;-0.37;-0.37|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.175554|.	0.49916|.	D|.	0.000139|.	T|T	0.68146|0.68146	0.2969|0.2969	L|L	0.52206|0.52206	1.635|1.635	0.54753|0.54753	D|D	0.999985|0.999985	P;P;P;P|.	0.46656|.	0.545;0.569;0.882;0.763|.	B;P;P;P|.	0.51582|.	0.165;0.58;0.612;0.674|.	T|T	0.66135|0.66135	-0.5999|-0.5999	10|5	0.21014|.	T|.	0.42|.	.|.	15.5982|15.5982	0.76602|0.76602	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	495;416;540;606|.	Q9NW15-4;Q9NW15-2;Q9NW15-3;Q9NW15|.	.;.;.;ANO10_HUMAN|.	R|G	606;416;540;495|134	ENSP00000292246:K606R;ENSP00000327767:K416R;ENSP00000379398:K540R;ENSP00000394119:K495R|.	ENSP00000292246:K606R|.	K|S	-|-	2|1	0|0	ANO10|ANO10	43449204|43449204	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.987000|0.987000	0.75469|0.75469	7.310000|7.310000	0.78947|0.78947	2.088000|2.088000	0.63022|0.63022	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.403	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		C	43474200	T	C	43474200	3	2	380	1	0	0	0	0	1	0	0	0	696	1609	56	4	173	4	ANO10	3	43474200	Missense_Mutation	SNP	T	TCGA-36-1577-01A-01W-0615-10	4287618	43474200	154548230	10	20677											
ABHD6	57406	hgsc.bcm.edu	37	3	58271149	58271149	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:58271149C>T	ENST00000478253.1	+	9	1307	c.806C>T	c.(805-807)cCg>cTg	p.P269L	ABHD6_ENST00000295962.4_Missense_Mutation_p.P269L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	269					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)	p.P269L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATCAAGGTTCCGACGCAGATC	0.483																																																1	Substitution - Missense(1)	ovary(1)	3											95	85	88					3																	58271149		2203	4300	6503	58246189	SO:0001583	missense	57406			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.806C>T	3.37:g.58271149C>T	ENSP00000420315:p.Pro269Leu		58246189	B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101839	0.94245	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	D;D	0.90844	-2.74;-2.74	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.941	D	0.95871	0.8891	10	0.87932	D	0	-23.4988	19.1572	0.93516	0.0:1.0:0.0:0.0	.	269;269	Q9BV23;F5H7L1	ABHD6_HUMAN;.	L	269	ENSP00000420315:P269L;ENSP00000295962:P269L	ENSP00000295962:P269L	P	+	2	0	ABHD6	58246189	1.000000	0.71417	0.516000	0.27786	0.986000	0.74619	7.230000	0.78097	2.606000	0.88127	0.563000	0.77884	CCG		0.483	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		T	58271149	C	T	58271149	3	4	380	1	0	0	0	0	1	0	0	0	86	652	23	1	832	1	ABHD6	3	58271149	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	14796949	58271149	139751281	11	20678											
GOLIM4	27333	hgsc.bcm.edu	37	3	167750318	167750318	+	Missense_Mutation	SNP	G	G	T	rs142340864		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:167750318G>T	ENST00000470487.1	-	9	1855	c.1166C>A	c.(1165-1167)gCg>gAg	p.A389E	GOLIM4_ENST00000309027.4_Missense_Mutation_p.A361E	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	389	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A389E(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCAGCACGCGCGTGCCCTTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	3											237	197	211					3																	167750318		2203	4300	6503	169233012	SO:0001583	missense	27333			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1166C>A	3.37:g.167750318G>T	ENSP00000417354:p.Ala389Glu		169233012		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	G	4.368	0.067761	0.08436	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.54	2.76	0.32466	.	1.404780	0.03726	N	0.252712	T	0.33352	0.0860	L	0.54323	1.7	0.09310	N	1	P;P	0.41546	0.754;0.754	B;B	0.43478	0.421;0.421	T	0.27020	-1.0086	9	0.02654	T	1	0.0909	4.038	0.09738	0.2919:0.0:0.4628:0.2453	.	361;389	F8W785;O00461	.;GOLI4_HUMAN	E	389;361	.	ENSP00000309893:A361E	A	-	2	0	GOLIM4	169233012	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.065000	0.14466	0.721000	0.32231	0.555000	0.69702	GCG		0.488	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			T	167750318	G	T	167750318	3	4	380	1	0	0	0	0	1	0	0	0	6566	1087	38	3	956	3	GOLIM4	3	167750318	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	109479169	167750318	30272112	12	20679											
LRBA	987	hgsc.bcm.edu	37	4	151203756	151203756	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr4:151203756C>T	ENST00000357115.3	-	56	8438	c.8195G>A	c.(8194-8196)aGg>aAg	p.R2732K	LRBA_ENST00000535741.1_Missense_Mutation_p.R2721K|LRBA_ENST00000510413.1_Missense_Mutation_p.R2720K|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2732						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R2732K(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTCCAAGGTCCTCAACAAGTC	0.403																																																1	Substitution - Missense(1)	ovary(1)	4											107	101	103					4																	151203756		2203	4300	6503	151423206	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8195G>A	4.37:g.151203756C>T	ENSP00000349629:p.Arg2732Lys		151423206	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.775091|5.775091	0.96922|0.96922	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835;ENST00000508606|ENST00000535741;ENST00000510413;ENST00000357115	.|T;T;T	.|0.28666	.|1.6;1.6;1.6	5.91|5.91	5.91|5.91	0.95273|0.95273	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62258|0.62258	0.2413|0.2413	M|M	0.84156|0.84156	2.68|2.68	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.67145	.|0.994;0.987;0.952;0.996	.|D;D;P;D	.|0.77004	.|0.97;0.937;0.754;0.989	T|T	0.64076|0.64076	-0.6492|-0.6492	5|10	.|0.62326	.|D	.|0.03	.|.	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2732;2721;2720;627	.|P50851;F5H1X8;P50851-2;Q68D03	.|LRBA_HUMAN;.;.;.	R|K	1374;78|2721;2720;2732	.|ENSP00000446299:R2721K;ENSP00000421552:R2720K;ENSP00000349629:R2732K	.|ENSP00000349629:R2732K	G|R	-|-	1|2	0|0	LRBA|LRBA	151423206|151423206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.702000|7.702000	0.84576|0.84576	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.403	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151203756	C	T	151203756	3	4	380	1	0	0	0	0	1	0	0	0	8931	681	24	2	408	2	LRBA	4	151203756	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10		151203756	39950520	13	20680											
LARP1	23367	hgsc.bcm.edu	37	5	154181875	154181876	+	In_Frame_Ins	INS	-	-	GAT			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr5:154181875_154181876insGAT	ENST00000336314.4	+	11	1818_1819	c.1794_1795insGAT	c.(1795-1797)gcc>GATgcc	p.598_599insD		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	675					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.L675_A676insD(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCGCCGAACTGGCCAAGGTCAT	0.55																																																1	Insertion - In frame(1)	ovary(1)	5																																								154162069	SO:0001652	inframe_insertion	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	Exception_encountered	5.37:g.154181875_154181876insGAT	ENSP00000336721:p.Leu598_Ala599insAsp		154162068	O94836|Q8N4M2|Q8NB73|Q9UFD7	In_Frame_Ins	INS	ENST00000336314.4	37	CCDS4328.1																																																																																				0.55	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		GAT	154181876	-	GAT	154181875	7	5	380	1	0	1	1	0	0	0	0	0	8628	1335	47	0	1836	0	LARP1	5	154181875	In_Frame_Ins	INS	-	TCGA-36-1577-01A-01W-0615-10		154181875	26733385	14	20681											
C6orf27	80737	hgsc.bcm.edu	37	6	31733543	31733543	+	Missense_Mutation	SNP	C	C	T	rs375942272	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr6:31733543C>T	ENST00000375688.4	-	17	2704	c.2504G>A	c.(2503-2505)cGg>cAg	p.R835Q	SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375686.3_Silent_p.P844P			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	835						extracellular region (GO:0005576)		p.R835Q(1)									GGTGGTGTGCCGGTCCTGTGG	0.597													T|||	2	0.000399361	0	0	5008	,	,		16929	0		0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	6						T	GLN/ARG	0,3022		0,0,1511	93	49	65		2504	2.4	0	6		65	1,5417		0,1,2708	no	missense	C6orf27	NM_025258.2	43	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	benign	835/892	31733543	1,8439	1511	2709	4220	31841522	SO:0001583	missense	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2504G>A	6.37:g.31733543C>T	ENSP00000364840:p.Arg835Gln		31841522	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	0.826	-0.747080	0.03065	0.0	1.85E-4	ENSG00000204396	ENST00000375688	T	0.10192	2.9	4.87	2.42	0.29668	.	1.482110	0.04450	N	0.372373	T	0.00967	0.0032	N	0.02247	-0.625	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.10111	T	0.7	0.1777	4.2278	0.10589	0.0:0.1831:0.1732:0.6438	.	835	Q9Y334	G7C_HUMAN	Q	835	ENSP00000364840:R835Q	ENSP00000364840:R835Q	R	-	2	0	C6orf27	31841522	0.968000	0.33430	0.001000	0.08648	0.000000	0.00434	0.292000	0.19011	0.097000	0.17492	-0.269000	0.10298	CGG		0.597	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		T	31733543	C	T	31733543	3	4	380	1	0	0	0	0	1	0	0	0	2362	652	23	1	174	1	C6orf27	6	31733543	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10		31733543	139381524	15	20682											
TSPYL1	7259	hgsc.bcm.edu	37	6	116600085	116600085	+	Nonsense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr6:116600085G>C	ENST00000368608.3	-	1	981	c.909C>G	c.(907-909)taC>taG	p.Y303*	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000540275.1_Intron|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	303					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.Y303*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		AATTGGTTATGTACCTTAACA	0.453																																																1	Substitution - Nonsense(1)	ovary(1)	6											124	129	127					6																	116600085		2203	4300	6503	116706778	SO:0001587	stop_gained	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.909C>G	6.37:g.116600085G>C	ENSP00000357597:p.Tyr303*		116706778	O75885|Q5TFE6	Nonsense_Mutation	SNP	ENST00000368608.3	37	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119744	0.94385	.	.	ENSG00000189241	ENST00000368608	.	.	.	4.27	2.5	0.30297	.	0.000000	0.32204	N	0.006430	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0138	6.6031	0.22710	0.2134:0.0:0.7866:0.0	.	.	.	.	X	303	.	ENSP00000357597:Y303X	Y	-	3	2	TSPYL1	116706778	0.939000	0.31865	0.895000	0.35142	0.995000	0.86356	0.808000	0.27154	0.751000	0.32900	0.462000	0.41574	TAC		0.453	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			C	116600085	G	C	116600085	4	2	380	1	0	0	0	0	0	1	0	0	16659	1372	48	3	408	3	TSPYL1	6	116600085	Nonsense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	84866542	116600085	54514982	16	20683											
EXTL3	2137	hgsc.bcm.edu	37	8	28574118	28574119	+	In_Frame_Ins	INS	-	-	CCATGT			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr8:28574118_28574119insCCATGT	ENST00000220562.4	+	3	1444_1445	c.542_543insCCATGT	c.(541-546)aactgc>aaCCATGTctgc	p.181_182NC>NHVC	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	181					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.N181_C182insHV(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGCTACACAACTGCTTTGATT	0.594																																																1	Insertion - In frame(1)	ovary(1)	8																																								28630038	SO:0001652	inframe_insertion	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	Exception_encountered	8.37:g.28574118_28574119insCCATGT	ENSP00000220562:p.Asn181_Cys182insHisVal		28630037	D3DST8|O00225|Q53XT3	In_Frame_Ins	INS	ENST00000220562.4	37	CCDS6070.1																																																																																				0.594	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		CCATGT	28574119	-	CCATGT	28574118	7	5	380	1	0	1	1	0	0	0	0	0	5327	43	2	0	544	0	EXTL3	8	28574118	In_Frame_Ins	INS	-	TCGA-36-1577-01A-01W-0615-10		28574118	117789904	17	20684											
CTHRC1	115908	hgsc.bcm.edu	37	8	104390423	104390423	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr8:104390423G>C	ENST00000330295.5	+	3	683	c.541G>C	c.(541-543)Gga>Cga	p.G181R	CTHRC1_ENST00000520880.1_Missense_Mutation_p.G51R|CTHRC1_ENST00000520337.1_Missense_Mutation_p.G167R	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	181					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.G181R(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TTTGGACCAAGGAAGCCCTGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	8											95	94	95					8																	104390423		2203	4300	6503	104459599	SO:0001583	missense	115908			BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.541G>C	8.37:g.104390423G>C	ENSP00000330523:p.Gly181Arg		104459599	G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562247	0.86335	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	T;T	0.68479	-0.33;0.73	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83473	0.0060	10	0.72032	D	0.01	-3.781	19.3347	0.94312	0.0:0.0:1.0:0.0	.	181	Q96CG8	CTHR1_HUMAN	R	181;167;167;51	ENSP00000330523:G181R;ENSP00000430550:G167R	ENSP00000297577:G167R	G	+	1	0	CTHRC1	104459599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.571000	0.86741	0.650000	0.86243	GGA		0.373	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		C	104390423	G	C	104390423	3	2	380	1	0	0	0	0	1	0	0	0	4010	1001	35	3	551	3	CTHRC1	8	104390423	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	75816305	104390423	41973599	18	20685											
CSMD3	114788	hgsc.bcm.edu	37	8	113347628	113347628	+	Silent	SNP	A	A	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr8:113347628A>C	ENST00000297405.5	-	45	7339	c.7095T>G	c.(7093-7095)acT>acG	p.T2365T	CSMD3_ENST00000352409.3_Silent_p.T2295T|CSMD3_ENST00000343508.3_Silent_p.T2325T|CSMD3_ENST00000455883.2_Silent_p.T2261T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2365	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2365T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGATTTGAAGTACTGTAGA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - coding silent(1)	ovary(1)	8											129	118	122					8																	113347628		2203	4300	6503	113416804	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7095T>G	8.37:g.113347628A>C			113416804	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113347628	A	C	113347628	2	2	380	1	0	0	0	0	0	0	0	1	3946	59	3	5		5	CSMD3	8	113347628	Silent	SNP	A	TCGA-36-1577-01A-01W-0615-10	8957205	113347628	33016394	19	20686											
VLDLR	7436	hgsc.bcm.edu	37	9	2641485	2641485	+	Missense_Mutation	SNP	A	A	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr9:2641485A>C	ENST00000382100.3	+	4	790	c.434A>C	c.(433-435)gAt>gCt	p.D145A	VLDLR_ENST00000382099.2_Missense_Mutation_p.D145A|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	145	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.D145A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGTGGAGAAGATGAAGAAAAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	9											269	242	252					9																	2641485		2203	4300	6503	2631485	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.434A>C	9.37:g.2641485A>C	ENSP00000371532:p.Asp145Ala		2631485	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853506	0.91355	.	.	ENSG00000147852	ENST00000382100;ENST00000382099	D;D	0.99220	-5.58;-5.58	6.07	6.07	0.98685	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.56097	D	0.000038	D	0.99764	0.9904	H	0.99689	4.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96772	0.9569	10	0.87932	D	0	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	145;145	Q5VVF5;P98155	.;VLDLR_HUMAN	A	145	ENSP00000371532:D145A;ENSP00000371531:D145A	ENSP00000371531:D145A	D	+	2	0	VLDLR	2631485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	GAT		0.463	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		C	2641485	A	C	2641485	3	2	380	1	0	0	0	0	1	0	0	0	17174	333	12	5	448	5	VLDLR	9	2641485	Missense_Mutation	SNP	A	TCGA-36-1577-01A-01W-0615-10		2641485	138571946	20	20687											
AQP3	360	hgsc.bcm.edu	37	9	33442355	33442356	+	Frame_Shift_Ins	INS	-	-	A	rs539666664		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr9:33442355_33442356insA	ENST00000297991.4	-	5	733_734	c.653_654insT	c.(652-654)cggfs	p.R218fs	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	218					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.D219fs*>75(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGCCAAAGTCCCGGGCAGGGTT	0.668																																																1	Insertion - Frameshift(1)	ovary(1)	9																																								33432356	SO:0001589	frameshift_variant	360				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"Ion channels / Aquaporins", "Blood group antigens"	636	protein-coding gene	gene with protein product	"Gill blood group"	600170	"aquaporin 3", "aquaporin 3 (GIL blood group)"			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.653_654insT	9.37:g.33442355_33442356insA	ENSP00000297991:p.Arg218fs		33432355	A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Frame_Shift_Ins	INS	ENST00000297991.4	37	CCDS6542.1																																																																																				0.668	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925		A	33442356	-	A	33442355	7	5	380	1	0	1	1	0	0	0	0	0	827	610	22	0	232	0	AQP3	9	33442355	Frame_Shift_Ins	INS	-	TCGA-36-1577-01A-01W-0615-10	30800870	33442355	107771076	21	20688											
TEX10	54881	hgsc.bcm.edu	37	9	103082642	103082642	+	Missense_Mutation	SNP	G	G	C	rs367648075		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr9:103082642G>C	ENST00000374902.4	-	11	2283	c.2107C>G	c.(2107-2109)Cga>Gga	p.R703G	TEX10_ENST00000535814.1_Missense_Mutation_p.R706G	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	703						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.R703G(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GGAACTCCTCGAAGGCTCTGA	0.388																																																1	Substitution - Missense(1)	ovary(1)	9						G	GLY/ARG,GLY/ARG	0,4406		0,0,2203	62	55	58		2116,2107	4.6	1	9		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TEX10	NM_001161584.1,NM_017746.3	125,125	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign	706/914,703/930	103082642	1,13005	2203	4300	6503	102122463	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2107C>G	9.37:g.103082642G>C	ENSP00000364037:p.Arg703Gly		102122463	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150015	0.37923	0.0	1.16E-4	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.55	4.62	0.57501	.	0.391462	0.26859	N	0.022124	T	0.61739	0.2371	L	0.29908	0.895	0.80722	D	1	B;D;B	0.65815	0.079;0.995;0.079	B;P;B	0.60682	0.016;0.878;0.016	T	0.65018	-0.6270	9	0.72032	D	0.01	-6.0115	14.0117	0.64500	0.0:0.0:0.6756:0.3244	.	706;571;703	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	G	706;703;571	.	ENSP00000364037:R703G	R	-	1	2	TEX10	102122463	0.991000	0.36638	0.997000	0.53966	0.993000	0.82548	1.180000	0.32005	2.605000	0.88082	0.563000	0.77884	CGA		0.388	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		C	103082642	G	C	103082642	3	2	380	1	0	0	0	0	1	0	0	0	15772	1066	37	3	702	3	TEX10	9	103082642	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	69640287	103082642	38130789	22	20689											
C10orf12	26148	hgsc.bcm.edu	37	10	98743852	98743855	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	CTGT	CTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr10:98743852_98743855delCTGT	ENST00000286067.2	+	1	2812_2815	c.2705_2708delCTGT	c.(2704-2709)cctgtcfs	p.PV902fs		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	902								p.V903I(1)|p.V903fs*22(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GACGTTCCCCCTGTCAAGCATCCT	0.446																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(2)	10																																								98733845	SO:0001589	frameshift_variant	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2705_2708delCTGT	10.37:g.98743852_98743855delCTGT	ENSP00000286067:p.Pro902fs		98733842	Q9H945|Q9Y457	Frame_Shift_Del	DEL	ENST00000286067.2	37	CCDS7452.1																																																																																				0.446	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		-	98743855	CTGT	-	98743852	7	5	380	1	0	1	0	1	0	0	0	0	1589	681	24	0	2707	0	C10orf12	10	98743852	Frame_Shift_Del	DEL	CTGT	TCGA-36-1577-01A-01W-0615-10		98743852	36790895	23	20690											
ABCC2	1244	hgsc.bcm.edu	37	10	101578641	101578641	+	Missense_Mutation	SNP	C	C	G	rs56220353	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr10:101578641C>G	ENST00000370449.4	+	18	2479	c.2366C>G	c.(2365-2367)tCt>tGt	p.S789C		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	789	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> F (in dbSNP:rs56220353). {ECO:0000269|PubMed:11266082}.		cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.S789C(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GACCCCCTGTCTGCAGTGGAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	10	GRCh37	CM045738	ABCC2	M	rs56220353						71	76	74					10																	101578641		2203	4300	6503	101568631	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2366C>G	10.37:g.101578641C>G	ENSP00000359478:p.Ser789Cys		101568631	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515701	0.64634	.	.	ENSG00000023839	ENST00000370449	D	0.93189	-3.18	6.08	6.08	0.98989	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98655	1.0681	10	0.87932	D	0	-9.0945	19.6529	0.95825	0.0:1.0:0.0:0.0	.	789	Q92887	MRP2_HUMAN	C	789	ENSP00000359478:S789C	ENSP00000359478:S789C	S	+	2	0	ABCC2	101568631	1.000000	0.71417	0.617000	0.29091	0.202000	0.24057	7.815000	0.86186	2.890000	0.99128	0.655000	0.94253	TCT		0.448	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		G	101578641	C	G	101578641	3	3	380	1	0	0	0	0	1	0	0	0	53	913	32	3	2436	3	ABCC2	10	101578641	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	2834789	101578641	33956106	24	20691											
NR1H3	10062	hgsc.bcm.edu	37	11	47282193	47282193	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr11:47282193C>A	ENST00000467728.1	+	3	1704	c.466C>A	c.(466-468)Cgc>Agc	p.R156S	NR1H3_ENST00000481889.2_Missense_Mutation_p.R111S|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.R156S|NR1H3_ENST00000395397.3_Missense_Mutation_p.R111S|NR1H3_ENST00000441012.2_Missense_Mutation_p.R156S|NR1H3_ENST00000527949.1_Missense_Mutation_p.R65S|NR1H3_ENST00000405853.3_Missense_Mutation_p.R156S|NR1H3_ENST00000405576.1_Missense_Mutation_p.R111S			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	156					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R156S(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GTGTCGGCTTCGCAAATGCCG	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											31	29	30					11																	47282193		2201	4298	6499	47238769	SO:0001583	missense	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.466C>A	11.37:g.47282193C>A	ENSP00000420656:p.Arg156Ser		47238769	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846747	0.91277	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.08	5.08	0.68730	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.71206	2.165	0.42919	D	0.994286	D;D;D;D;D	0.89917	0.997;0.984;0.994;1.0;0.974	D;D;D;D;P	0.79784	0.958;0.937;0.963;0.993;0.851	D	0.99768	1.1023	10	0.87932	D	0	.	18.8433	0.92194	0.0:1.0:0.0:0.0	.	162;111;156;111;156	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	S	111;111;111;156;156;156;111;156;156;156;156;156;65	ENSP00000378793:R111S;ENSP00000385073:R111S;ENSP00000433271:R111S;ENSP00000403798:R156S;ENSP00000385801:R156S;ENSP00000391005:R156S;ENSP00000412636:R111S;ENSP00000415591:R156S;ENSP00000387946:R156S;ENSP00000403696:R156S;ENSP00000420656:R156S;ENSP00000384745:R156S;ENSP00000432073:R65S	ENSP00000378793:R111S	R	+	1	0	NR1H3	47238769	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.927000	0.70080	2.503000	0.84419	0.462000	0.41574	CGC		0.632	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			A	47282193	C	A	47282193	3	1	380	1	0	0	0	0	1	0	0	0	10618	884	31	3	476	3	NR1H3	11	47282193	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10		47282193	87724323	25	20692											
GRM5	2915	hgsc.bcm.edu	37	11	88300288	88300288	+	Missense_Mutation	SNP	C	C	T	rs376576529	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr11:88300288C>T	ENST00000305447.4	-	7	2712	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T	GRM5_ENST00000455756.2_Missense_Mutation_p.A855T|GRM5_ENST00000393297.1_Missense_Mutation_p.A855T|GRM5_ENST00000305432.5_Missense_Mutation_p.A855T|GRM5_ENST00000418177.2_Missense_Mutation_p.A855T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	855					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A855T(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTGCTGGCTGCGGAGGATGAC	0.567													C|||	2	0.000399361	0	0	5008	,	,		21002	0.002		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	11						C	THR/ALA,THR/ALA	0,4402		0,0,2201	87	76	80		2563,2563	5.7	0.2	11		80	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	GRM5	NM_000842.3,NM_001143831.2	58,58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	855/1181,855/1213	88300288	1,12999	2201	4299	6500	87939936	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2563G>A	11.37:g.88300288C>T	ENSP00000306138:p.Ala855Thr		87939936	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787247	0.70337	0.0	1.16E-4	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88277	-2.34;-2.35;-2.35;-2.34;-2.36	5.71	5.71	0.89125	.	0.095077	0.64402	D	0.000001	D	0.89949	0.6863	L	0.42245	1.32	0.58432	D	0.999996	D;P	0.59767	0.986;0.9	P;B	0.52627	0.704;0.167	D	0.88299	0.2948	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	855;855	P41594-2;P41594	.;GRM5_HUMAN	T	855	ENSP00000402912:A855T;ENSP00000405690:A855T;ENSP00000305905:A855T;ENSP00000306138:A855T;ENSP00000376975:A855T	.	A	-	1	0	GRM5	87939936	1.000000	0.71417	0.233000	0.24025	0.995000	0.86356	4.934000	0.63491	2.709000	0.92574	0.655000	0.94253	GCA		0.567	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		T	88300288	C	T	88300288	3	4	380	1	0	0	0	0	1	0	0	0	6800	768	27	1	1087	1	GRM5	11	88300288	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	41018095	88300288	46706228	26	20693											
UBE4A	9354	hgsc.bcm.edu	37	11	118261438	118261441	+	Frame_Shift_Del	DEL	ACAG	ACAG	-	rs142299294	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	ACAG	ACAG	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr11:118261438_118261441delACAG	ENST00000431736.2	+	18	2928_2931	c.2856_2859delACAG	c.(2854-2859)gcacagfs	p.AQ952fs	UBE4A_ENST00000252108.3_Frame_Shift_Del_p.AQ945fs|UBE4A_ENST00000545354.1_Frame_Shift_Del_p.AQ417fs					ubiquitination factor E4A									p.T954fs*4(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTCTCTTTGCACAGACAGTTCGAG	0.436																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								117766651	SO:0001589	frameshift_variant	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2856_2859delACAG	11.37:g.118261442_118261445delACAG	ENSP00000387362:p.Ala952fs		117766648		Frame_Shift_Del	DEL	ENST00000431736.2	37	CCDS8396.1																																																																																				0.436	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		-	118261441	ACAG	-	118261438	7	5	380	1	0	1	0	1	0	0	0	0	16882	146	6	0	2922	0	UBE4A	11	118261438	Frame_Shift_Del	DEL	ACAG	TCGA-36-1577-01A-01W-0615-10	29961150	118261438	16745078	27	20694											
CHD4	1108	hgsc.bcm.edu	37	12	6704527	6704527	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr12:6704527C>A	ENST00000357008.2	-	14	2257	c.2094G>T	c.(2092-2094)gaG>gaT	p.E698D	CHD4_ENST00000544040.1_Missense_Mutation_p.E691D|CHD4_ENST00000544484.1_Missense_Mutation_p.E695D|CHD4_ENST00000309577.6_Missense_Mutation_p.E698D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	698					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.E698D(1)		central_nervous_system(2)	2						CTGGAGGCCTCTCCAACTTCC	0.502																																					Colon(32;586 792 4568 16848 45314)											1	Substitution - Missense(1)	ovary(1)	12											179	143	155					12																	6704527		2203	4300	6503	6574788	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2094G>T	12.37:g.6704527C>A	ENSP00000349508:p.Glu698Asp		6574788	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	9.313	1.056093	0.19907	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90844	-2.73;-2.73;-2.73;-2.74	5.83	4.0	0.46444	.	0.123212	0.53938	D	0.000043	T	0.80071	0.4556	N	0.17723	0.515	0.39095	D	0.961171	B;B;P	0.35612	0.011;0.0;0.512	B;B;B	0.32762	0.01;0.002;0.152	T	0.74166	-0.3753	10	0.15952	T	0.53	-2.4798	9.1628	0.37032	0.0:0.7741:0.0:0.2259	.	698;698;691	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	D	695;691;698;698;672	ENSP00000440392:E695D;ENSP00000440542:E691D;ENSP00000312419:E698D;ENSP00000349508:E698D	ENSP00000312419:E698D	E	-	3	2	CHD4	6574788	0.997000	0.39634	0.996000	0.52242	0.592000	0.36648	1.183000	0.32041	0.802000	0.34089	0.655000	0.94253	GAG		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6704527	C	A	6704527	3	1	380	1	0	0	0	0	1	0	0	0	3327	912	32	3	3752	3	CHD4	12	6704527	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10		6704527	127147368	28	20695											
HDAC7	51564	hgsc.bcm.edu	37	12	48180401	48180401	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr12:48180401C>T	ENST00000427332.2	-	22	2578	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	HDAC7_ENST00000080059.7_Missense_Mutation_p.A847T|HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000552960.1_Missense_Mutation_p.A830T|HDAC7_ENST00000380610.4_Missense_Mutation_p.A864T|HDAC7_ENST00000354334.3_Missense_Mutation_p.A810T			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	808	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.A808T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCCAGTGGGGCCGGGTGACCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	12											68	62	64					12																	48180401		2203	4300	6503	46466668	SO:0001583	missense	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2422G>A	12.37:g.48180401C>T	ENSP00000404394:p.Ala808Thr		46466668	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37		.	.	.	.	.	.	.	.	.	.	C	7.270	0.606993	0.14002	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.56941	0.44;0.43;0.44;0.43;0.44	5.11	2.23	0.28157	Histone deacetylase domain (2);	0.339036	0.29924	N	0.010848	T	0.37705	0.1013	L	0.45581	1.43	0.38468	D	0.947408	B;B;B;B	0.18610	0.001;0.029;0.001;0.002	B;B;B;B	0.14023	0.007;0.01;0.003;0.002	T	0.30446	-0.9978	10	0.02654	T	1	.	10.2239	0.43214	0.0:0.4422:0.4665:0.0912	.	808;847;830;810	Q8WUI4;Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	HDAC7_HUMAN;.;.;.	T	847;810;830;864;808	ENSP00000080059:A847T;ENSP00000351326:A810T;ENSP00000448532:A830T;ENSP00000369984:A864T;ENSP00000404394:A808T	ENSP00000080059:A847T	A	-	1	0	HDAC7	46466668	0.489000	0.26004	0.306000	0.25113	0.812000	0.45895	0.859000	0.27858	0.272000	0.22027	0.558000	0.71614	GCC		0.602	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			T	48180401	C	T	48180401	3	4	380	1	0	0	0	0	1	0	0	0	7012	739	26	2	456	2	HDAC7	12	48180401	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	41475874	48180401	85671494	29	20696											
AMHR2	269	hgsc.bcm.edu	37	12	53819530	53819530	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr12:53819530G>C	ENST00000257863.4	+	6	759	c.679G>C	c.(679-681)Gtt>Ctt	p.V227L	AMHR2_ENST00000550311.1_Missense_Mutation_p.V227L|AMHR2_ENST00000379791.3_Missense_Mutation_p.V227L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	227	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.V227L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGGAAAACTGGTTGCCATCAA	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											73	61	65					12																	53819530		2203	4300	6503	52105797	SO:0001583	missense	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.679G>C	12.37:g.53819530G>C	ENSP00000257863:p.Val227Leu		52105797	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115085	0.94339	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	T;T;T	0.71461	-0.57;-0.57;-0.57	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35805	N	0.002975	D	0.84638	0.5516	M	0.79693	2.465	0.45930	D	0.99876	D;D	0.89917	0.996;1.0	D;D	0.85130	0.99;0.997	D	0.85990	0.1488	10	0.87932	D	0	.	15.6361	0.76953	0.0:0.0:1.0:0.0	.	227;227	F8W1D2;Q16671	.;AMHR2_HUMAN	L	227	ENSP00000257863:V227L;ENSP00000446661:V227L;ENSP00000369117:V227L	ENSP00000257863:V227L	V	+	1	0	AMHR2	52105797	1.000000	0.71417	0.963000	0.40424	0.908000	0.53690	6.030000	0.70903	2.840000	0.97914	0.655000	0.94253	GTT		0.562	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		C	53819530	G	C	53819530	3	2	380	1	0	0	0	0	1	0	0	0	573	1261	44	3	701	3	AMHR2	12	53819530	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	5639129	53819530	80032365	30	20697											
RIMBP2	23504	hgsc.bcm.edu	37	12	130897166	130897166	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr12:130897166A>G	ENST00000261655.4	-	15	2982	c.2819T>C	c.(2818-2820)aTa>aCa	p.I940T		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	940					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I940T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCGCTTACCTATTTTCTCCAC	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											108	103	105					12																	130897166		2203	4300	6503	129463119	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2819T>C	12.37:g.130897166A>G	ENSP00000261655:p.Ile940Thr		129463119	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895435	0.52121	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.45668	1.95;0.89	5.06	-1.85	0.07784	Src homology-3 domain (1);	0.560962	0.18188	N	0.148926	T	0.28267	0.0698	L	0.32530	0.975	0.80722	D	1	D	0.54601	0.967	B	0.43809	0.432	T	0.09751	-1.0660	10	0.25106	T	0.35	-12.7988	9.8792	0.41222	0.5862:0.0:0.4138:0.0	.	940	O15034	RIMB2_HUMAN	T	940;77	ENSP00000261655:I940T;ENSP00000439030:I77T	ENSP00000261655:I940T	I	-	2	0	RIMBP2	129463119	1.000000	0.71417	0.092000	0.20876	0.962000	0.63368	1.646000	0.37249	-0.640000	0.05495	0.533000	0.62120	ATA		0.493	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		G	130897166	A	G	130897166	3	3	380	1	0	0	0	0	1	0	0	0	13366	449	16	4	359	4	RIMBP2	12	130897166	Missense_Mutation	SNP	A	TCGA-36-1577-01A-01W-0615-10	77077636	130897166	2954729	31	20698											
CENPJ	55835	hgsc.bcm.edu	37	13	25484157	25484157	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr13:25484157C>G	ENST00000381884.4	-	4	821	c.636G>C	c.(634-636)gaG>gaC	p.E212D	CENPJ_ENST00000545981.1_Missense_Mutation_p.E212D	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	212					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.E212D(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ATGTGGCTCTCTCTCCAGTGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	13											124	126	126					13																	25484157		2203	4300	6503	24382157	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.636G>C	13.37:g.25484157C>G	ENSP00000371308:p.Glu212Asp		24382157	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	4.485	0.089907	0.08632	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18960	2.18;2.18	5.15	2.31	0.28768	.	0.717637	0.13369	N	0.393087	T	0.16811	0.0404	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.27331	-1.0077	10	0.24483	T	0.36	.	2.5937	0.04848	0.2011:0.5222:0.1719:0.1048	.	212	Q9HC77	CENPJ_HUMAN	D	212	ENSP00000371308:E212D;ENSP00000441090:E212D	ENSP00000371308:E212D	E	-	3	2	CENPJ	24382157	0.219000	0.23619	0.038000	0.18304	0.007000	0.05969	0.080000	0.14802	0.731000	0.32448	0.555000	0.69702	GAG		0.463	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		G	25484157	C	G	25484157	3	3	380	1	0	0	0	0	1	0	0	0	3234	912	32	3	3436	3	CENPJ	13	25484157	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10		25484157	89685721	32	20699											
PCDH20	64881	hgsc.bcm.edu	37	13	61986664	61986664	+	Missense_Mutation	SNP	A	A	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr13:61986664A>C	ENST00000409186.1	-	5	3673	c.1568T>G	c.(1567-1569)gTg>gGg	p.V523G	PCDH20_ENST00000409204.4_Missense_Mutation_p.V523G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	523	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> M (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.V496G(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TAAAAGTTGCACTTTAATGAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	13											140	142	141					13																	61986664		2203	4300	6503	60884665	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1568T>G	13.37:g.61986664A>C	ENSP00000386653:p.Val523Gly		60884665	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250281	0.59212	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.71222	-0.55;-0.55	6.06	6.06	0.98353	.	0.408933	0.21981	N	0.066314	D	0.84511	0.5488	M	0.87900	2.915	0.80722	D	1	D	0.56746	0.977	P	0.58454	0.839	D	0.87100	0.2178	10	0.87932	D	0	.	16.6245	0.84952	1.0:0.0:0.0:0.0	.	523	A8K1K9	.	G	523;523;269	ENSP00000387250:V523G;ENSP00000386653:V523G	ENSP00000351500:V269G	V	-	2	0	PCDH20	60884665	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	9.249000	0.95470	2.323000	0.78572	0.528000	0.53228	GTG		0.403	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		C	61986664	A	C	61986664	3	2	380	1	0	0	0	0	1	0	0	0	11515	159	6	5	1291	5	PCDH20	13	61986664	Missense_Mutation	SNP	A	TCGA-36-1577-01A-01W-0615-10	36502507	61986664	53183214	33	20700											
DAD1	1603	hgsc.bcm.edu	37	14	23044008	23044010	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:23044008_23044010delCAA	ENST00000250498.4	-	2	446_448	c.335_337delTTG	c.(334-339)gttggc>ggc	p.V112del	DAD1_ENST00000543337.1_In_Frame_Del_p.V84del|DAD1_ENST00000538631.1_Intron|DAD1_ENST00000489532.2_5'Flank	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	112					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.V112delV(1)		large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		ATGAGTCAGCCAACAAAGTTCAT	0.419																																																1	Deletion - In frame(1)	ovary(1)	14																																								22113850	SO:0001651	inframe_deletion	1603			AK223129	CCDS9571.1	14q11.2	2013-03-06			ENSG00000129562	ENSG00000129562			2664	protein-coding gene	gene with protein product	"oligosaccharyltransferase 2 homolog (S. cerevisiae)", "oligosaccharyltransferase subunit 2 (non-catalytic)"	600243					Standard	NM_001344		Approved	OST2	uc001wgl.2	P61803	OTTHUMG00000028685	ENST00000250498.4:c.335_337delTTG	14.37:g.23044011_23044013delCAA	ENSP00000250498:p.Val112del		22113848	D3DS25|O08552|O70364|P46966|P46968|Q6FGA3|Q96GB7	In_Frame_Del	DEL	ENST00000250498.4	37	CCDS9571.1																																																																																				0.419	DAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071617.2	NM_001344		-	23044010	CAA	-	23044008	7	5	380	1	0	1	0	1	0	0	0	0	4224	594	21	0	8	0	DAD1	14	23044008	In_Frame_Del	DEL	CAA	TCGA-36-1577-01A-01W-0615-10		23044008	84305532	34	20701											
LRP10	26020	hgsc.bcm.edu	37	14	23344376	23344376	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:23344376G>A	ENST00000359591.4	+	4	1019	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	LRP10_ENST00000546834.1_Missense_Mutation_p.G110S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	110	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G110S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCTGCCCGGGGGCAACGTCAC	0.632																																																1	Substitution - Missense(1)	ovary(1)	14											48	46	47					14																	23344376		2203	4300	6503	22414216	SO:0001583	missense	26020			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.328G>A	14.37:g.23344376G>A	ENSP00000352601:p.Gly110Ser		22414216	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.391812|2.391812	0.42410|0.42410	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	D|T;T	0.94417|0.26518	-3.42|1.73;1.73	5.4|5.4	4.51|4.51	0.55191|0.55191	.|CUB (3);	0.056027|0.056027	0.64402|0.64402	D|N	0.000001|0.000001	T|T	0.20210|0.20210	0.0486|0.0486	L|L	0.32530|0.32530	0.975|0.975	0.46499|0.46499	D|D	0.999079|0.999079	.|B	.|0.11235	.|0.004	.|B	.|0.10450	.|0.005	T|T	0.03240|0.03240	-1.1057|-1.1057	8|10	0.15499|0.28530	T|T	0.54|0.3	-19.2094|-19.2094	12.924|12.924	0.58249|0.58249	0.08:0.0:0.92:0.0|0.08:0.0:0.92:0.0	.|.	.|110	.|Q7Z4F1	.|LRP10_HUMAN	E|S	11|110	ENSP00000447977:G11E|ENSP00000352601:G110S;ENSP00000447559:G110S	ENSP00000447977:G11E|ENSP00000352601:G110S	G|G	+|+	2|1	0|0	LRP10|LRP10	22414216|22414216	1.000000|1.000000	0.71417|0.71417	0.867000|0.867000	0.34043|0.34043	0.089000|0.089000	0.18198|0.18198	3.196000|3.196000	0.51020|0.51020	1.280000|1.280000	0.44463|0.44463	0.563000|0.563000	0.77884|0.77884	GGG|GGC		0.632	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			A	23344376	G	A	23344376	3	1	380	1	0	0	0	0	1	0	0	0	8952	1232	43	2	342	2	LRP10	14	23344376	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	300368	23344376	84005164	35	20702											
NOVA1	4857	hgsc.bcm.edu	37	14	26918027	26918027	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:26918027A>G	ENST00000539517.2	-	5	979	c.662T>C	c.(661-663)gTc>gCc	p.V221A	NOVA1_ENST00000465357.2_Missense_Mutation_p.V197A|NOVA1_ENST00000267422.7_Missense_Mutation_p.V99A	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	224	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V221A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ACTCACAGTGACAACCCTCTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	14											204	187	193					14																	26918027		2203	4300	6503	25987867	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.662T>C	14.37:g.26918027A>G	ENSP00000438875:p.Val221Ala		25987867	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964891	0.74131	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.73	5.73	0.89815	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000003	T	0.63780	0.2540	M	0.71871	2.18	0.80722	D	1	D;P;P	0.71674	0.998;0.58;0.525	D;B;B	0.69654	0.965;0.285;0.188	T	0.67620	-0.5624	10	0.87932	D	0	-3.1557	16.0142	0.80425	1.0:0.0:0.0:0.0	.	224;197;221	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	A	197;221;99;180;75	ENSP00000447391:V197A;ENSP00000438875:V221A;ENSP00000267422:V99A;ENSP00000408914:V180A;ENSP00000299472:V75A	ENSP00000267422:V99A	V	-	2	0	NOVA1	25987867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.187000	0.69744	0.460000	0.39030	GTC		0.488	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		G	26918027	A	G	26918027	3	3	380	1	0	0	0	0	1	0	0	0	10554	275	10	4	865	4	NOVA1	14	26918027	Missense_Mutation	SNP	A	TCGA-36-1577-01A-01W-0615-10	3573651	26918027	80431513	36	20703											
PRKD1	5587	hgsc.bcm.edu	37	14	30107998	30107998	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:30107998G>A	ENST00000331968.5	-	5	1038	c.809C>T	c.(808-810)cCg>cTg	p.P270L	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Missense_Mutation_p.P278L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	270					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.P270L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAATGTGTGCGGCACTTTAAC	0.468																																																2	Substitution - Missense(2)	ovary(2)	14											97	92	94					14																	30107998		2203	4300	6503	29177749	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.809C>T	14.37:g.30107998G>A	ENSP00000333568:p.Pro270Leu		29177749	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279086	0.80692	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.85171	-1.95;-1.95	5.4	5.4	0.78164	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92805	0.6259	10	0.87932	D	0	-18.5697	19.5253	0.95203	0.0:0.0:1.0:0.0	.	270	Q15139	KPCD1_HUMAN	L	270;278	ENSP00000333568:P270L;ENSP00000390535:P278L	ENSP00000333568:P270L	P	-	2	0	PRKD1	29177749	1.000000	0.71417	0.987000	0.45799	0.377000	0.30045	9.695000	0.98691	2.696000	0.92011	0.650000	0.86243	CCG		0.468	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		A	30107998	G	A	30107998	3	1	380	1	0	0	0	0	1	0	0	0	12521	1116	39	1	1985	1	PRKD1	14	30107998	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	3189971	30107998	77241542	37	20704											
DAAM1	23002	hgsc.bcm.edu	37	14	59797938	59797940	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	TGC	TGC	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:59797938_59797940delTGC	ENST00000395125.1	+	13	1595_1597	c.1572_1574delTGC	c.(1570-1575)tgtgct>tgt	p.A525del	DAAM1_ENST00000360909.3_In_Frame_Del_p.A525del|DAAM1_ENST00000351081.1_In_Frame_Del_p.A525del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	525					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.A525delA(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGGCCGTCTGTGCTTCAATCCCA	0.483																																																1	Deletion - In frame(1)	ovary(1)	14																																								58867693	SO:0001651	inframe_deletion	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1572_1574delTGC	14.37:g.59797938_59797940delTGC	ENSP00000378557:p.Ala525del		58867691	Q86U34|Q8N1Z8|Q8TB39	In_Frame_Del	DEL	ENST00000395125.1	37	CCDS9737.1																																																																																				0.483	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		-	59797940	TGC	-	59797938	7	5	380	1	0	1	0	1	0	0	0	0	4215	1702	59	0	1622	0	DAAM1	14	59797938	In_Frame_Del	DEL	TGC	TCGA-36-1577-01A-01W-0615-10	29689940	59797938	47551602	38	20705											
ATP10A	57194	hgsc.bcm.edu	37	15	25924920	25924921	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr15:25924920_25924921insAA	ENST00000356865.6	-	21	4178_4179	c.4067_4068insTT	c.(4066-4068)cacfs	p.H1356fs		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1356					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T1357fs*20(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGCTGTGTGTGCCAAGAAGG	0.649																																																1	Insertion - Frameshift(1)	ovary(1)	15																																								23476014	SO:0001589	frameshift_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4067_4068insTT	15.37:g.25924920_25924921insAA	ENSP00000349325:p.His1356fs		23476013	Q4G0S9|Q969I4	Frame_Shift_Ins	INS	ENST00000356865.6	37	CCDS32178.1																																																																																				0.649	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		AA	25924921	-	AA	25924920	7	5	380	1	0	1	1	0	0	0	0	0	1116	1368	48	0	435	0	ATP10A	15	25924920	Frame_Shift_Ins	INS	-	TCGA-36-1577-01A-01W-0615-10		25924920	76606472	39	20706											
TMOD2	29767	hgsc.bcm.edu	37	15	52058735	52058735	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr15:52058735G>C	ENST00000249700.4	+	2	318	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	TMOD2_ENST00000435126.2_Missense_Mutation_p.E33Q|TMOD2_ENST00000539962.2_5'UTR	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	33					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.E33Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAAACAGTTGGAAAATGTTCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	15											148	136	140					15																	52058735		2195	4293	6488	49846027	SO:0001583	missense	29767			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.97G>C	15.37:g.52058735G>C	ENSP00000249700:p.Glu33Gln		49846027	B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407255	0.83230	.	.	ENSG00000128872	ENST00000435126;ENST00000249700	T;T	0.33654	1.4;1.4	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.54323	1.7	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	0.988;1.0	T	0.48790	-0.9004	10	0.32370	T	0.25	-19.6125	19.4249	0.94737	0.0:0.0:1.0:0.0	.	33;33	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	Q	33	ENSP00000404590:E33Q;ENSP00000249700:E33Q	ENSP00000249700:E33Q	E	+	1	0	TMOD2	49846027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.604000	0.88044	0.591000	0.81541	GAA		0.418	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			C	52058735	G	C	52058735	3	2	380	1	0	0	0	0	1	0	0	0	16234	1175	41	3	99	3	TMOD2	15	52058735	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	26133815	52058735	50472657	40	20707											
FURIN	5045	hgsc.bcm.edu	37	15	91424681	91424681	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr15:91424681G>A	ENST00000268171.3	+	16	2237	c.1958G>A	c.(1957-1959)gGg>gAg	p.G653E	FES_ENST00000414248.2_5'Flank|FES_ENST00000328850.3_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	653					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G653E(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACATGCCAGGGGCCGGCCCTG	0.667																																																1	Substitution - Missense(1)	ovary(1)	15											38	40	39					15																	91424681		2196	4294	6490	89225685	SO:0001583	missense	5045			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1958G>A	15.37:g.91424681G>A	ENSP00000268171:p.Gly653Glu		89225685	Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853889	0.91355	.	.	ENSG00000140564	ENST00000268171	T	0.35973	1.28	5.02	5.02	0.67125	Growth factor, receptor (1);	0.100948	0.64402	D	0.000002	T	0.67581	0.2908	M	0.89658	3.05	0.58432	D	0.999997	D	0.76494	0.999	D	0.69142	0.962	T	0.76350	-0.2991	10	0.87932	D	0	-33.8562	18.3814	0.90452	0.0:0.0:1.0:0.0	.	653	P09958	FURIN_HUMAN	E	653	ENSP00000268171:G653E	ENSP00000268171:G653E	G	+	2	0	FURIN	89225685	1.000000	0.71417	0.978000	0.43139	0.939000	0.58152	3.712000	0.54875	2.337000	0.79520	0.555000	0.69702	GGG		0.667	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		A	91424681	G	A	91424681	3	1	380	1	0	0	0	0	1	0	0	0	6099	1232	43	2	2016	2	FURIN	15	91424681	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	39365946	91424681	11106711	41	20708											
PRC1	9055	hgsc.bcm.edu	37	15	91512798	91512798	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr15:91512798C>A	ENST00000361188.5	-	13	2839	c.1628G>T	c.(1627-1629)gGa>gTa	p.G543V	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.G543V|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.G502V|PRC1_ENST00000361919.3_Missense_Mutation_p.G543V					protein regulator of cytokinesis 1									p.G543V(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTGTTGGCTCCATGCCTGCC	0.547																																																1	Substitution - Missense(1)	ovary(1)	15											137	103	114					15																	91512798		2198	4298	6496	89313802	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1628G>T	15.37:g.91512798C>A	ENSP00000354679:p.Gly543Val		89313802		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900285	0.52227	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	6.06	5.13	0.70059	.	0.463864	0.24652	N	0.036711	T	0.40272	0.1110	L	0.36672	1.1	0.49213	D	0.999761	B;B;B;B	0.27765	0.156;0.156;0.156;0.188	B;B;B;P	0.45794	0.211;0.168;0.299;0.493	T	0.32745	-0.9895	10	0.30078	T	0.28	.	10.0855	0.42415	0.0:0.7773:0.1506:0.0721	.	502;543;513;543	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	V	543;543;543;146;502	ENSP00000377793:G543V;ENSP00000354618:G543V;ENSP00000354679:G543V;ENSP00000409549:G502V	ENSP00000354679:G543V	G	-	2	0	PRC1	89313802	1.000000	0.71417	0.893000	0.35052	0.933000	0.57130	3.342000	0.52159	1.541000	0.49316	0.650000	0.86243	GGA		0.547	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		A	91512798	C	A	91512798	3	1	380	1	0	0	0	0	1	0	0	0	12449	855	30	3	246	3	PRC1	15	91512798	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	88117	91512798	11018594	42	20709											
GLIS2	84662	hgsc.bcm.edu	37	16	4383356	4383357	+	Frame_Shift_Ins	INS	-	-	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr16:4383356_4383357insT	ENST00000262366.3	+	4	1002_1003	c.181_182insT	c.(181-183)ctgfs	p.L61fs	GLIS2_ENST00000433375.1_Frame_Shift_Ins_p.L61fs|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	61	Interaction with CTNND1. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.N62fs*115(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGGCTTCCTGCTGAACTCCAAG	0.619																																																1	Insertion - Frameshift(1)	ovary(1)	16																																								4323358	SO:0001589	frameshift_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.182dupT	16.37:g.4383357_4383357dupT	ENSP00000262366:p.Leu61fs		4323357	B3KX84	Frame_Shift_Ins	INS	ENST00000262366.3	37	CCDS10511.1																																																																																				0.619	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		T	4383357	-	T	4383356	7	5	380	1	0	1	1	0	0	0	0	0	6446	796	28	0	187	0	GLIS2	16	4383356	Frame_Shift_Ins	INS	-	TCGA-36-1577-01A-01W-0615-10		4383356	85971397	43	20710											
SGSM2	9905	hgsc.bcm.edu	37	17	2266876	2266877	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:2266876_2266877delCA	ENST00000426855.2	+	7	965_966	c.790_791delCA	c.(790-792)cacfs	p.H264fs	SGSM2_ENST00000268989.3_Frame_Shift_Del_p.H264fs|SGSM2_ENST00000574563.1_Frame_Shift_Del_p.H264fs	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	264					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.H264fs*169(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGGCAAGAACCACGTGCTGGTG	0.629																																																1	Deletion - Frameshift(1)	ovary(1)	17																																								2213627	SO:0001589	frameshift_variant	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.790_791delCA	17.37:g.2266876_2266877delCA	ENSP00000415107:p.His264fs		2213626	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Frame_Shift_Del	DEL	ENST00000426855.2	37	CCDS45570.1																																																																																				0.629	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		-	2266877	CA	-	2266876	7	5	380	1	0	1	0	1	0	0	0	0	14226	594	21	0	816	0	SGSM2	17	2266876	Frame_Shift_Del	DEL	CA	TCGA-36-1577-01A-01W-0615-10		2266876	78928334	44	20711											
TP53	7157	hgsc.bcm.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		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"	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	17	GRCh37	CS071266	TP53	S							80	75	77					17																	7578176		2203	4300	6503	7518901	SO:0001630	splice_region_variant	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.672+1G>T	17.37:g.7578176C>A			7518901	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578176	C	A	7578176	5	1	380	1	0	0	0	0	0	0	1	0	16381	521	18	3	621	3	TP53	17	7578176	Splice_Site	SNP	C	TCGA-36-1577-01A-01W-0615-10	5311300	7578176	73617034	45	20712											
MYH4	4622	hgsc.bcm.edu	37	17	10350417	10350417	+	Silent	SNP	T	T	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:10350417T>A	ENST00000255381.2	-	35	5192	c.5082A>T	c.(5080-5082)gcA>gcT	p.A1694A	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1694					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1694A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTCCAGGGATGCCCTGAGCT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	17											174	138	150					17																	10350417		2203	4300	6503	10291142	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5082A>T	17.37:g.10350417T>A			10291142		Silent	SNP	ENST00000255381.2	37	CCDS11154.1																																																																																				0.522	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10350417	T	A	10350417	2	1	380	1	0	0	0	0	0	0	0	1	10037	1451	51	5		5	MYH4	17	10350417	Silent	SNP	T	TCGA-36-1577-01A-01W-0615-10	2772241	10350417	70844793	46	20713											
ACE	1636	hgsc.bcm.edu	37	17	61571747	61571747	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:61571747G>A	ENST00000290866.4	+	22	3320	c.3296G>A	c.(3295-3297)gGc>gAc	p.G1099D	ACE_ENST00000413513.3_Missense_Mutation_p.G525D|ACE_ENST00000428043.1_Missense_Mutation_p.G1099D|ACE_ENST00000290863.6_Missense_Mutation_p.G525D|ACE_ENST00000490216.2_Missense_Mutation_p.G525D|ACE_ENST00000577647.1_Missense_Mutation_p.G525D|ACE_ENST00000421982.2_Missense_Mutation_p.G345D	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1099	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.G1099D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AAGTACCAGGGCCTCTGCCCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	17											75	59	65					17																	61571747		2203	4300	6503	58925479	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3296G>A	17.37:g.61571747G>A	ENSP00000290866:p.Gly1099Asp		58925479	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818374	0.50633	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	H	0.98027	4.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.90322	0.4345	10	0.87932	D	0	-38.6559	17.7487	0.88428	0.0:0.0:1.0:0.0	.	345;525;525;1099	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	D	1099;1099;525;525;345	ENSP00000290866:G1099D;ENSP00000397593:G1099D;ENSP00000290863:G525D;ENSP00000392247:G525D;ENSP00000387760:G345D	ENSP00000290863:G525D	G	+	2	0	ACE	58925479	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.561000	0.98142	2.197000	0.70478	0.313000	0.20887	GGC		0.562	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			A	61571747	G	A	61571747	3	1	380	1	0	0	0	0	1	0	0	0	136	1203	42	2	3585	2	ACE	17	61571747	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10	51221330	61571747	19623463	47	20714											
MAP3K3	4215	hgsc.bcm.edu	37	17	61768495	61768495	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:61768495C>A	ENST00000361733.3	+	13	1566	c.1246C>A	c.(1246-1248)Cta>Ata	p.L416I	MAP3K3_ENST00000577395.1_Missense_Mutation_p.L412I|MAP3K3_ENST00000579585.1_Missense_Mutation_p.L447I|MAP3K3_ENST00000361357.3_Missense_Mutation_p.L447I|MAP3K3_ENST00000584573.1_Missense_Mutation_p.L443I	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	416	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.L416I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GATCCAGTTGCTAAAGAACTT	0.592																																																1	Substitution - Missense(1)	ovary(1)	17											112	92	99					17																	61768495		2203	4300	6503	59122227	SO:0001583	missense	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1246C>A	17.37:g.61768495C>A	ENSP00000354485:p.Leu416Ile		59122227	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427635	0.83667	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.34275	1.37;1.37	5.19	2.08	0.27032	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	0.64402	D	0.000001	T	0.59142	0.2172	M	0.82433	2.59	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.995	T	0.63283	-0.6672	10	0.87932	D	0	.	10.6012	0.45369	0.0:0.7798:0.0:0.2202	.	412;384;416;447	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	I	447;416	ENSP00000354927:L447I;ENSP00000354485:L416I	ENSP00000354927:L447I	L	+	1	2	MAP3K3	59122227	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.588000	0.36633	0.695000	0.31675	0.462000	0.41574	CTA		0.592	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		A	61768495	C	A	61768495	3	1	380	1	0	0	0	0	1	0	0	0	9251	796	28	3	1393	3	MAP3K3	17	61768495	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	196748	61768495	19426715	48	20715											
KIAA0427	9811	hgsc.bcm.edu	37	18	46287796	46287796	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr18:46287796G>C	ENST00000256413.3	+	9	1402	c.1107G>C	c.(1105-1107)caG>caC	p.Q369H	CTIF_ENST00000382998.4_Missense_Mutation_p.Q371H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	369					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.Q369H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTCCCCAGCAGAACAAGATGG	0.577																																																1	Substitution - Missense(1)	ovary(1)	18											125	87	100					18																	46287796		2203	4300	6503	44541794	SO:0001583	missense	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1107G>C	18.37:g.46287796G>C	ENSP00000256413:p.Gln369His		44541794	B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177014	0.38413	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.21932	1.98;1.98	5.8	0.738	0.18319	Armadillo-type fold (1);	0.704602	0.14295	N	0.328699	T	0.12646	0.0307	N	0.14661	0.345	0.31614	N	0.65118	B;B	0.30870	0.298;0.162	B;B	0.35899	0.213;0.078	T	0.19451	-1.0305	10	0.62326	D	0.03	-4.8823	6.6616	0.23016	0.2035:0.2377:0.5587:0.0	.	371;369	O43310-2;O43310	.;CTIF_HUMAN	H	369;371;321	ENSP00000256413:Q369H;ENSP00000372459:Q371H	ENSP00000256413:Q369H	Q	+	3	2	CTIF	44541794	1.000000	0.71417	0.927000	0.36925	0.582000	0.36321	2.490000	0.45294	-0.148000	0.11234	-0.175000	0.13238	CAG		0.577	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		C	46287796	G	C	46287796	3	2	380	1	0	0	0	0	1	0	0	0	8176	933	33	3	1143	3	KIAA0427	18	46287796	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10		46287796	31789452	49	20716											
GADD45GIP1	90480	hgsc.bcm.edu	37	19	13065326	13065326	+	Missense_Mutation	SNP	G	G	T	rs148072118		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr19:13065326G>T	ENST00000316939.1	-	2	388	c.365C>A	c.(364-366)gCa>gAa	p.A122E		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	122					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A122E(1)		ovary(2)|prostate(1)|skin(1)	4						CATGCACTCTGCGATGTGCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											54	47	50					19																	13065326		2203	4299	6502	12926326	SO:0001583	missense	90480			AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"papillomavirus L2 interacting nuclear protein 1", "CKII beta binding protein 2", "CR6 interacting factor 1", "p53-responsive gene 6"	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.365C>A	19.37:g.13065326G>T	ENSP00000323065:p.Ala122Glu		12926326	Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	G	9.600	1.128558	0.21041	.	.	ENSG00000179271	ENST00000316939	.	.	.	4.83	2.55	0.30701	.	0.132676	0.48767	N	0.000166	T	0.29684	0.0741	N	0.26042	0.785	0.19575	N	0.999968	B	0.21753	0.06	B	0.20955	0.032	T	0.21143	-1.0254	9	0.36615	T	0.2	-20.2894	13.2808	0.60212	0.0:0.0:0.6568:0.3432	.	122	Q8TAE8	G45IP_HUMAN	E	122	.	ENSP00000323065:A122E	A	-	2	0	GADD45GIP1	12926326	0.985000	0.35326	0.046000	0.18839	0.703000	0.40648	3.418000	0.52721	1.002000	0.39104	0.558000	0.71614	GCA		0.622	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		T	13065326	G	T	13065326	3	4	380	1	0	0	0	0	1	0	0	0	6184	1319	46	3	307	3	GADD45GIP1	19	13065326	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10		13065326	46063657	50	20717											
OR10H2	26538	hgsc.bcm.edu	37	19	15839642	15839642	+	Silent	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr19:15839642C>A	ENST00000305899.3	+	1	809	c.789C>A	c.(787-789)ccC>ccA	p.P263P		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P263P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACCTCAAGCCCAAAGGTCCCC	0.557																																																1	Substitution - coding silent(1)	ovary(1)	19											165	130	142					19																	15839642		2203	4300	6503	15700642	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.789C>A	19.37:g.15839642C>A			15700642	Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	CCDS12333.1																																																																																				0.557	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			A	15839642	C	A	15839642	2	1	380	1	0	0	0	0	0	0	0	1	10906	581	21	3		3	OR10H2	19	15839642	Silent	SNP	C	TCGA-36-1577-01A-01W-0615-10	2774316	15839642	43289341	51	20718											
PLVAP	83483	hgsc.bcm.edu	37	19	17487777	17487777	+	Silent	SNP	G	G	A	rs181770634	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr19:17487777G>A	ENST00000252590.4	-	1	382	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	107					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R107R(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTCCAGGTCGCGGCGAGCAT	0.637													G|||	3	0.000599042	0	0	5008	,	,		18373	0.002		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	19											99	86	90					19																	17487777		2203	4300	6503	17348777	SO:0001819	synonymous_variant	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.321C>T	19.37:g.17487777G>A			17348777	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	CCDS32952.1																																																																																				0.637	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		A	17487777	G	A	17487777	2	1	380	1	0	0	0	0	0	0	0	1	12116	1074	38	1		1	PLVAP	19	17487777	Silent	SNP	G	TCGA-36-1577-01A-01W-0615-10	1648135	17487777	41641206	52	20719											
KLK10	5655	hgsc.bcm.edu	37	19	51519365	51519365	+	Missense_Mutation	SNP	C	C	A	rs577311064		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr19:51519365C>A	ENST00000309958.3	-	4	535	c.317G>T	c.(316-318)gGa>gTa	p.G106V	KLK10_ENST00000391805.1_Missense_Mutation_p.G106V|CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000358789.3_Missense_Mutation_p.G106V	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G106V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GAGCTGCTCTCCCTGAAGAAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											42	35	37					19																	51519365		2200	4295	6495	56211177	SO:0001583	missense	5655			AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"Kallikreins"	6358	protein-coding gene	gene with protein product		602673	"kallikrein 10"	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.317G>T	19.37:g.51519365C>A	ENSP00000311746:p.Gly106Val		56211177	A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	c	18.24	3.579954	0.65992	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.90504	-2.68;-2.68;-2.68	4.67	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.685753	0.11990	N	0.509955	D	0.89529	0.6741	L	0.50993	1.605	0.37346	D	0.91058	P	0.38078	0.617	B	0.44133	0.442	D	0.88603	0.3151	10	0.87932	D	0	.	9.529	0.39182	0.0:0.8977:0.0:0.1023	.	106	O43240	KLK10_HUMAN	V	106	ENSP00000375681:G106V;ENSP00000311746:G106V;ENSP00000351640:G106V	ENSP00000311746:G106V	G	-	2	0	KLK10	56211177	0.006000	0.16342	0.752000	0.31206	0.988000	0.76386	0.528000	0.23002	1.046000	0.40249	0.655000	0.94253	GGA		0.602	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		A	51519365	C	A	51519365	3	1	380	1	0	0	0	0	1	0	0	0	8398	855	30	3	525	3	KLK10	19	51519365	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	34031588	51519365	7609618	53	20720											
SULF2	55959	hgsc.bcm.edu	37	20	46294020	46294020	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr20:46294020G>C	ENST00000359930.4	-	14	2771	c.1920C>G	c.(1918-1920)aaC>aaG	p.N640K	SULF2_ENST00000484875.1_Missense_Mutation_p.N640K|SULF2_ENST00000361612.4_Missense_Mutation_p.N640K|SULF2_ENST00000467815.1_Missense_Mutation_p.N640K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	640					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.N640K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCTTAATTTTGTTCTGCAGGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	20											150	152	151					20																	46294020		2203	4300	6503	45727427	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1920C>G	20.37:g.46294020G>C	ENSP00000353007:p.Asn640Lys		45727427	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827540	0.32329	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.15	4.2	0.49525	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.090836	0.85682	D	0.000000	D	0.95962	0.8685	L	0.47716	1.5	0.43564	D	0.995882	P;B	0.44195	0.828;0.336	B;B	0.40066	0.318;0.183	D	0.93659	0.6980	10	0.14252	T	0.57	-30.3527	8.4913	0.33102	0.2264:0.0:0.7736:0.0	.	640;640	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	K	640;640;640;59;640	ENSP00000353007:N640K;ENSP00000418290:N640K;ENSP00000354662:N640K;ENSP00000418442:N640K	ENSP00000353007:N640K	N	-	3	2	SULF2	45727427	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.789000	0.38724	1.168000	0.42723	0.462000	0.41574	AAC		0.522	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		C	46294020	G	C	46294020	3	2	380	1	0	0	0	0	1	0	0	0	15373	1368	48	3	724	3	SULF2	20	46294020	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10		46294020	16731500	54	20721											
NEFH	4744	hgsc.bcm.edu	37	22	29885437	29885438	+	Frame_Shift_Ins	INS	-	-	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr22:29885437_29885438insG	ENST00000310624.6	+	4	1841_1842	c.1808_1809insG	c.(1807-1812)aaggccfs	p.A604fs		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	604	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A604fs*14(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCTCCAGAGAAGGCCAAGtccc	0.559																																																1	Insertion - Frameshift(1)	ovary(1)	22																																								28215438	SO:0001589	frameshift_variant	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1810dupG	22.37:g.29885439_29885439dupG	ENSP00000311997:p.Ala604fs		28215437	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Frame_Shift_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.559	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29885438	-	G	29885437	7	5	380	1	0	1	1	0	0	0	0	0	10314	72	3	0	1822	0	NEFH	22	29885437	Frame_Shift_Ins	INS	-	TCGA-36-1577-01A-01W-0615-10		29885437	21419129	55	20722											
JOSD1	9929	hgsc.bcm.edu	37	22	39095977	39095977	+	Frame_Shift_Del	DEL	A	A	-	rs202131287		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr22:39095977delA	ENST00000216039.5	-	1	695	c.16delT	c.(16-18)tggfs	p.W6fs	JOSD1_ENST00000462610.1_5'Flank	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	6						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)	p.W6fs*64(1)		large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					TCTCCTTTCCATGGCACACAA	0.488																																																1	Deletion - Frameshift(1)	ovary(1)	22											140	142	141					22																	39095977		2203	4300	6503	37425923	SO:0001589	frameshift_variant	9929				CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.16delT	22.37:g.39095977delA	ENSP00000216039:p.Trp6fs		37425923	A8K712	Frame_Shift_Del	DEL	ENST00000216039.5	37	CCDS13976.1																																																																																				0.488	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		-	39095977	A	-	39095977	7	5	380	1	0	1	0	1	0	0	0	0	7958	217	8	0	608	0	JOSD1	22	39095977	Frame_Shift_Del	DEL	A	TCGA-36-1577-01A-01W-0615-10	9210540	39095977	12208589	56	20723											
PDK3	5165	hgsc.bcm.edu	37	X	24523397	24523397	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chrX:24523397G>A	ENST00000379162.4	+	5	812	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PDK3_ENST00000441463.2_Missense_Mutation_p.V193M	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	193	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.V193M(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CACCTGTAACGTGGCGGATGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	X											185	137	154					X																	24523397		2203	4300	6503	24433318	SO:0001583	missense	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.577G>A	X.37:g.24523397G>A	ENSP00000368460:p.Val193Met		24433318	B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537541	0.65085	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.78003	-1.14;-1.14	5.6	4.75	0.60458	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.958	D	0.92105	0.5691	10	0.62326	D	0.03	.	13.8548	0.63519	0.0754:0.0:0.9246:0.0	.	193;193	B4DXG6;Q15120	.;PDK3_HUMAN	M	193	ENSP00000368460:V193M;ENSP00000387536:V193M	ENSP00000368460:V193M	V	+	1	0	PDK3	24433318	1.000000	0.71417	0.302000	0.25058	0.577000	0.36160	9.761000	0.98940	1.253000	0.44018	0.600000	0.82982	GTG		0.458	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		A	24523397	G	A	24523397	3	1	380	1	0	0	0	0	1	0	0	0	11677	1145	40	1	595	1	PDK3	23	24523397	Missense_Mutation	SNP	G	TCGA-36-1577-01A-01W-0615-10		24523397	130747163	57	20724											
HUWE1	10075	hgsc.bcm.edu	37	X	53577921	53577921	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chrX:53577921T>C	ENST00000342160.3	-	64	9783	c.9326A>G	c.(9325-9327)cAt>cGt	p.H3109R	HUWE1_ENST00000262854.6_Missense_Mutation_p.H3109R|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3109					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.H2999R(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGACGCTCATGCATGAGCTG	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											64	46	52					X																	53577921		2203	4300	6503	53594646	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9326A>G	X.37:g.53577921T>C	ENSP00000340648:p.His3109Arg		53594646	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531990	0.64972	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.35236	1.32;1.32	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.36672	1.1	0.58432	D	0.999998	P;D	0.53462	0.932;0.96	P;D	0.66979	0.888;0.948	T	0.33624	-0.9861	10	0.27785	T	0.31	.	14.1505	0.65381	0.0:0.0:0.0:1.0	.	3109;3093	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	R	3109	ENSP00000340648:H3109R;ENSP00000262854:H3109R	ENSP00000262854:H3109R	H	-	2	0	HUWE1	53594646	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.306000	0.78905	1.987000	0.57996	0.486000	0.48141	CAT		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		C	53577921	T	C	53577921	3	2	380	1	0	0	0	0	1	0	0	0	7461	1464	51	4	3878	4	HUWE1	23	53577921	Missense_Mutation	SNP	T	TCGA-36-1577-01A-01W-0615-10	29054524	53577921	101692639	58	20725											
IRS4	8471	hgsc.bcm.edu	37	X	107976436	107976436	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chrX:107976436C>G	ENST00000372129.2	-	1	3215	c.3139G>C	c.(3139-3141)Gtg>Ctg	p.V1047L	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1047					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.V1047L(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGGTCGACCACATAGATTCGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											84	80	82					X																	107976436		2203	4300	6503	107863092	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3139G>C	X.37:g.107976436C>G	ENSP00000361202:p.Val1047Leu		107863092		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731639	0.69189	.	.	ENSG00000133124	ENST00000372129	T	0.47177	0.85	5.38	3.41	0.39046	.	0.477537	0.19860	N	0.104444	T	0.24661	0.0598	L	0.27053	0.805	0.30640	N	0.756524	P	0.34864	0.473	B	0.29267	0.1	T	0.09907	-1.0653	10	0.19590	T	0.45	-14.3121	2.3912	0.04378	0.0:0.4184:0.2954:0.2862	.	1047	O14654	IRS4_HUMAN	L	1047	ENSP00000361202:V1047L	ENSP00000361202:V1047L	V	-	1	0	IRS4	107863092	0.979000	0.34478	0.996000	0.52242	0.993000	0.82548	1.356000	0.34079	1.194000	0.43101	0.600000	0.82982	GTG		0.488	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		G	107976436	C	G	107976436	3	3	380	1	0	0	0	0	1	0	0	0	7842	478	17	3	638	3	IRS4	23	107976436	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	54398515	107976436	47294124	59	20726											
SMARCA1	6594	hgsc.bcm.edu	37	X	128630779	128630779	+	Missense_Mutation	SNP	C	C	T	rs146487129		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chrX:128630779C>T	ENST00000371122.4	-	12	1703	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R525H|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R525H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	525	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R525H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCATAACCACGCCACATGCA	0.388																																																1	Substitution - Missense(1)	ovary(1)	X						C	HIS/ARG,HIS/ARG	1,3834		0,1,1631,571	155	143	147		1574,1574	5.4	1	X	dbSNP_134	147	0,6728		0,0,2428,1872	no	missense,missense	SMARCA1	NM_003069.3,NM_139035.2	29,29	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging,probably-damaging	525/1055,525/1043	128630779	1,10562	2203	4300	6503	128458460	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1574G>A	X.37:g.128630779C>T	ENSP00000360163:p.Arg525His		128458460	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733330	0.89482	2.61E-4	0.0	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.36	5.36	0.76844	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000016	D	0.84884	0.5571	L	0.43646	1.37	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.996;0.987;0.996	D	0.86547	0.1832	10	0.87932	D	0	-7.751	18.2071	0.89858	0.0:1.0:0.0:0.0	.	504;525;525;525	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	525;525;525;504	ENSP00000360162:R525H;ENSP00000360164:R525H;ENSP00000360163:R525H;ENSP00000404275:R504H	ENSP00000360162:R525H	R	-	2	0	SMARCA1	128458460	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.896000	0.63222	2.238000	0.73509	0.422000	0.28245	CGT		0.388	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		T	128630779	C	T	128630779	3	4	380	1	0	0	0	0	1	0	0	0	14771	536	19	1	1642	1	SMARCA1	23	128630779	Missense_Mutation	SNP	C	TCGA-36-1577-01A-01W-0615-10	20654343	128630779	26639781	60	20727											
HSPG2	3339	hgsc.bcm.edu	37	1	22169322	22169322	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr1:22169322G>C	ENST00000374695.3	-	67	8930	c.8851C>G	c.(8851-8853)Cag>Gag	p.Q2951E		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2951	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.Q2951E(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCATGGGCCTGCCCGGGCACC	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											63	64	64					1																	22169322		2203	4300	6503	22041909	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8851C>G	1.37:g.22169322G>C	ENSP00000363827:p.Gln2951Glu		22041909	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390382	0.42410	.	.	ENSG00000142798	ENST00000374695	T	0.11930	2.73	4.92	4.92	0.64577	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36002	N	0.002850	T	0.22126	0.0533	L	0.35249	1.045	0.28923	N	0.892033	D;D	0.65815	0.995;0.981	D;D	0.79108	0.992;0.91	T	0.05903	-1.0857	10	0.05351	T	0.99	.	15.6188	0.76790	0.0:0.0:1.0:0.0	.	891;2951	Q59EG0;P98160	.;PGBM_HUMAN	E	2951	ENSP00000363827:Q2951E	ENSP00000363827:Q2951E	Q	-	1	0	HSPG2	22041909	0.688000	0.27680	1.000000	0.80357	0.969000	0.65631	2.970000	0.49240	2.268000	0.75426	0.462000	0.41574	CAG		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		C	22169322	G	C	22169322	3	2	381	1	0	0	0	0	1	0	0	0	7430	1328	46	3	4448	3	HSPG2	1	22169322	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10		22169322	227081299	1	20728											
ATP1A2	477	hgsc.bcm.edu	37	1	160109760	160109760	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr1:160109760G>C	ENST00000361216.3	+	22	3109	c.3020G>C	c.(3019-3021)cGg>cCg	p.R1007P	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R996P	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007			R -> W (in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy). {ECO:0000269|PubMed:23838748}.		adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R1007P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCATCCTGCGGCGGTATCCT	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											120	108	112					1																	160109760		2203	4300	6503	158376384	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3020G>C	1.37:g.160109760G>C	ENSP00000354490:p.Arg1007Pro		158376384	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.469223|4.469223	0.84533|0.84533	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.91068	.|-2.78;-2.78	4.37|4.37	4.37|4.37	0.52481|0.52481	.|ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96778|0.96778	0.8948|0.8948	H|H	0.97940|0.97940	4.11|4.11	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.988	.|D;D	.|0.69142	.|0.962;0.916	D|D	0.97810|0.97810	1.0250|1.0250	5|10	.|0.87932	.|D	.|0	.|.	14.8061|14.8061	0.69956|0.69956	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|907;1007	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	R|P	701|1007;996;710	.|ENSP00000354490:R1007P;ENSP00000376066:R996P	.|ENSP00000354490:R1007P	G|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158376384|158376384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	9.601000|9.601000	0.98297|0.98297	2.420000|2.420000	0.82092|0.82092	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		C	160109760	G	C	160109760	3	2	381	1	0	0	0	0	1	0	0	0	1129	1116	39	3	3106	3	ATP1A2	1	160109760	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	137940438	160109760	89140861	2	20729											
USH2A	7399	hgsc.bcm.edu	37	1	215963604	215963604	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr1:215963604C>T	ENST00000307340.3	-	51	10365	c.9979G>A	c.(9979-9981)Gat>Aat	p.D3327N	USH2A_ENST00000366943.2_Missense_Mutation_p.D3327N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3327					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D3327N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCACATAATCCTGCCCACAA	0.363										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											105	99	101					1																	215963604		2203	4300	6503	214030227	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9979G>A	1.37:g.215963604C>T	ENSP00000305941:p.Asp3327Asn		214030227	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920017	0.73098	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12984	2.64;2.63	5.91	4.99	0.66335	Fibronectin, type III (2);	0.142736	0.31772	N	0.007094	T	0.23133	0.0559	M	0.73598	2.24	0.41265	D	0.986801	D	0.53619	0.961	B	0.43360	0.417	T	0.10706	-1.0618	10	0.62326	D	0.03	.	17.0758	0.86586	0.0:0.8731:0.1268:0.0	.	3327	O75445	USH2A_HUMAN	N	3327	ENSP00000305941:D3327N;ENSP00000355910:D3327N	ENSP00000305941:D3327N	D	-	1	0	USH2A	214030227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.313000	0.65798	1.478000	0.48253	0.655000	0.94253	GAT		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215963604	C	T	215963604	3	4	381	1	0	0	0	0	1	0	0	0	17036	855	30	2	5717	2	USH2A	1	215963604	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	55853844	215963604	33287017	3	20730											
DARS	1615	hgsc.bcm.edu	37	2	136700956	136700956	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr2:136700956C>T	ENST00000264161.4	-	5	630	c.415G>A	c.(415-417)Gtt>Att	p.V139I	DARS_ENST00000537273.1_Missense_Mutation_p.V39I|DARS_ENST00000463008.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	139					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.V139I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACCTTCTGAACATGTAACTCA	0.318																																																1	Substitution - Missense(1)	ovary(1)	2											169	164	165					2																	136700956		2203	4299	6502	136417426	SO:0001583	missense	1615			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.415G>A	2.37:g.136700956C>T	ENSP00000264161:p.Val139Ile		136417426	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	3.758	-0.050262	0.07407	.	.	ENSG00000115866	ENST00000264161;ENST00000537273;ENST00000441323;ENST00000456565;ENST00000449218	T;T;T;T;T	0.79454	1.78;-1.27;1.78;1.78;1.78	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.160889	0.56097	D	0.000034	T	0.61022	0.2314	N	0.16708	0.43	0.50632	D	0.999881	B	0.10296	0.003	B	0.17722	0.019	T	0.55062	-0.8199	10	0.16420	T	0.52	-19.071	11.694	0.51532	0.0:0.9178:0.0:0.0822	.	139	P14868	SYDC_HUMAN	I	139;39;106;106;106	ENSP00000264161:V139I;ENSP00000444192:V39I;ENSP00000389867:V106I;ENSP00000397616:V106I;ENSP00000388801:V106I	ENSP00000264161:V139I	V	-	1	0	DARS	136417426	0.997000	0.39634	1.000000	0.80357	0.895000	0.52256	0.790000	0.26900	2.700000	0.92200	0.563000	0.77884	GTT		0.318	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		T	136700956	C	T	136700956	3	4	381	1	0	0	0	0	1	0	0	0	4241	478	17	2	1138	2	DARS	2	136700956	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10		136700956	106498417	4	20731											
GALNT3	2591	hgsc.bcm.edu	37	2	166626717	166626717	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr2:166626717C>A	ENST00000392701.3	-	2	1269	c.494G>T	c.(493-495)gGa>gTa	p.G165V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	165					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G165V(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGTGTCTGGTCCAAGATCTCG	0.423																																																1	Substitution - Missense(1)	ovary(1)	2											116	105	109					2																	166626717		2203	4300	6503	166334963	SO:0001583	missense	2591				CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.494G>T	2.37:g.166626717C>A	ENSP00000376465:p.Gly165Val		166334963	Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695651	0.88830	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.60920	0.45;0.15	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.77638	0.4160	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76862	-0.2802	10	0.51188	T	0.08	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	165;165	Q14435;Q14435-2	GALT3_HUMAN;.	V	165	ENSP00000376465:G165V;ENSP00000412643:G165V	ENSP00000376465:G165V	G	-	2	0	GALNT3	166334963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.666000	0.83877	2.736000	0.93811	0.655000	0.94253	GGA		0.423	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		A	166626717	C	A	166626717	3	1	381	1	0	0	0	0	1	0	0	0	6214	855	30	3	1447	3	GALNT3	2	166626717	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	29925761	166626717	76572656	5	20732											
FAM171B	165215	hgsc.bcm.edu	37	2	187626639	187626639	+	Missense_Mutation	SNP	C	C	A	rs145285890	byFrequency	TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr2:187626639C>A	ENST00000304698.5	+	8	1773	c.1570C>A	c.(1570-1572)Cgt>Agt	p.R524S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	524						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.R524S(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGCGTATGGGCGTTCCCATAT	0.418																																																1	Substitution - Missense(1)	ovary(1)	2											94	85	88					2																	187626639		2203	4300	6503	187334884	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1570C>A	2.37:g.187626639C>A	ENSP00000304108:p.Arg524Ser		187334884	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	0.128	-1.116691	0.01799	.	.	ENSG00000144369	ENST00000304698	T	0.40476	1.03	5.79	4.91	0.64330	.	0.601209	0.19035	N	0.124449	T	0.20414	0.0491	N	0.08118	0	0.23132	N	0.998248	B;B	0.15930	0.015;0.015	B;B	0.19666	0.026;0.026	T	0.23440	-1.0188	10	0.08837	T	0.75	2.0E-4	8.8081	0.34950	0.1488:0.7762:0.0:0.075	.	524;525	Q6P995;A8K122	F171B_HUMAN;.	S	524	ENSP00000304108:R524S	ENSP00000304108:R524S	R	+	1	0	FAM171B	187334884	0.888000	0.30383	0.546000	0.28166	0.620000	0.37586	2.077000	0.41557	1.431000	0.47355	0.655000	0.94253	CGT		0.418	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187626639	C	A	187626639	3	1	381	1	0	0	0	0	1	0	0	0	5491	768	27	3	1600	3	FAM171B	2	187626639	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	20999922	187626639	55572734	6	20733											
STAT1	6772	hgsc.bcm.edu	37	2	191844560	191844560	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr2:191844560C>G	ENST00000361099.3	-	20	2052	c.1665G>C	c.(1663-1665)tgG>tgC	p.W555C	STAT1_ENST00000392323.2_Missense_Mutation_p.W557C|STAT1_ENST00000392322.3_Missense_Mutation_p.W555C|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.W555C	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	555					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.W555C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CAATCCAAAGCCAGAAGGGAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											80	85	83					2																	191844560		2203	4300	6503	191552805	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1665G>C	2.37:g.191844560C>G	ENSP00000354394:p.Trp555Cys		191552805	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524849	0.85600	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	5.73	5.73	0.89815	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.100249	0.85682	D	0.000000	D	0.98115	0.9378	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.98310	1.0523	10	0.72032	D	0.01	-12.6933	20.2602	0.98440	0.0:1.0:0.0:0.0	.	555;555	P42224-2;P42224	.;STAT1_HUMAN	C	555;555;555;557	ENSP00000354394:W555C;ENSP00000386244:W555C;ENSP00000376136:W555C;ENSP00000376137:W557C	ENSP00000354394:W555C	W	-	3	0	STAT1	191552805	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	TGG		0.358	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		G	191844560	C	G	191844560	3	3	381	1	0	0	0	0	1	0	0	0	15266	740	26	3	615	3	STAT1	2	191844560	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	4217921	191844560	51354813	7	20734											
CPS1	1373	hgsc.bcm.edu	37	2	211521299	211521299	+	Silent	SNP	G	G	A	rs148237524		TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr2:211521299G>A	ENST00000233072.5	+	30	3805	c.3609G>A	c.(3607-3609)tcG>tcA	p.S1203S	CPS1_ENST00000451903.2_Silent_p.S752S|CPS1_ENST00000430249.2_Silent_p.S1209S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1203	ATP-grasp 2.		S -> L (in CPS1D). {ECO:0000269|PubMed:21120950}.|S -> P (in CPS1D). {ECO:0000269|PubMed:16737834}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.S1203S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GTGTCCACTCGGGAGATGCCA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	2						G	,,	1,4405	2.1+/-5.4	0,1,2202	72	73	73		3627,2256,3609	-11.7	0.1	2	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CPS1	NM_001122633.2,NM_001122634.2,NM_001875.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	1209/1507,752/1050,1203/1501	211521299	1,13005	2203	4300	6503	211229544	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3609G>A	2.37:g.211521299G>A			211229544	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																				0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			A	211521299	G	A	211521299	2	1	381	1	0	0	0	0	0	0	0	1	3823	1103	39	1		1	CPS1	2	211521299	Silent	SNP	G	TCGA-36-1578-01A-01W-0615-10	19676739	211521299	31678074	8	20735											
PAX3	5077	hgsc.bcm.edu	37	2	223084971	223084971	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr2:223084971T>A	ENST00000350526.4	-	7	1197	c.1061A>T	c.(1060-1062)tAc>tTc	p.Y354F	PAX3_ENST00000336840.6_Missense_Mutation_p.Y354F|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.Y354F|PAX3_ENST00000392070.2_Missense_Mutation_p.Y354F|PAX3_ENST00000344493.4_Missense_Mutation_p.Y354F|PAX3_ENST00000409551.3_Missense_Mutation_p.Y353F	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	354					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y354F(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAGGCAGTAGGCAGAGCT	0.577			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	ovary(1)	2											220	184	196					2																	223084971		2203	4300	6503	222793215	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1061A>T	2.37:g.223084971T>A	ENSP00000343052:p.Tyr354Phe		222793215	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725203	0.89298	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.68	5.68	0.88126	.	0.926544	0.09373	N	0.811040	D	0.94853	0.8337	L	0.55743	1.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;0.998	D;D;D;D;D	0.91635	0.996;0.996;0.994;0.999;0.994	D	0.89387	0.3686	10	0.13853	T	0.58	.	15.9325	0.79675	0.0:0.0:0.0:1.0	.	354;353;354;354;354	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	F	354;354;354;354;354;353;71;71	ENSP00000375921:Y354F;ENSP00000342092:Y354F;ENSP00000343052:Y354F;ENSP00000375922:Y354F;ENSP00000338767:Y354F;ENSP00000386750:Y353F	ENSP00000338767:Y354F	Y	-	2	0	PAX3	222793215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.169000	0.68431	0.528000	0.53228	TAC		0.577	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			A	223084971	T	A	223084971	3	1	381	1	0	0	0	0	1	0	0	0	11480	1638	57	5	500	5	PAX3	2	223084971	Missense_Mutation	SNP	T	TCGA-36-1578-01A-01W-0615-10	11563672	223084971	20114402	9	20736											
SCN11A	11280	hgsc.bcm.edu	37	3	38921582	38921582	+	Silent	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr3:38921582G>C	ENST00000302328.3	-	19	3450	c.3252C>G	c.(3250-3252)ccC>ccG	p.P1084P	SCN11A_ENST00000456224.3_Silent_p.P1046P|SCN11A_ENST00000450244.1_Silent_p.P1084P|SCN11A_ENST00000444237.2_Silent_p.P1084P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1084					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P1084P(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTGGATTTTGGGTTGGTTCT	0.338																																																1	Substitution - coding silent(1)	ovary(1)	3											53	55	54					3																	38921582		2203	4300	6503	38896586	SO:0001819	synonymous_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3252C>G	3.37:g.38921582G>C			38896586	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																				0.338	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		C	38921582	G	C	38921582	2	2	381	1	0	0	0	0	0	0	0	1	13916	1335	47	3		3	SCN11A	3	38921582	Silent	SNP	G	TCGA-36-1578-01A-01W-0615-10		38921582	159100848	10	20737											
SLC6A20	54716	hgsc.bcm.edu	37	3	45801358	45801358	+	Silent	SNP	G	G	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr3:45801358G>A	ENST00000358525.4	-	10	1735	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	SLC6A20_ENST00000353278.4_Silent_p.D503D|SLC6A20_ENST00000456124.2_Silent_p.D540D|SLC6A20_ENST00000493980.1_5'Flank	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	540					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.D503D(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCTGGGAGGCGTCCCAGGCTT	0.567																																																1	Substitution - coding silent(1)	ovary(1)	3											102	101	101					3																	45801358		2203	4300	6503	45776362	SO:0001819	synonymous_variant	54716			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1620C>T	3.37:g.45801358G>A			45776362	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	CCDS43077.1																																																																																				0.567	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		A	45801358	G	A	45801358	2	1	381	1	0	0	0	0	0	0	0	1	14687	1136	40	1		1	SLC6A20	3	45801358	Silent	SNP	G	TCGA-36-1578-01A-01W-0615-10	6879776	45801358	152221072	11	20738											
ALAS1	211	hgsc.bcm.edu	37	3	52245331	52245331	+	Missense_Mutation	SNP	G	G	A	rs144316660		TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr3:52245331G>A	ENST00000394965.2	+	10	1723	c.1363G>A	c.(1363-1365)Gcc>Acc	p.A455T	ALAS1_ENST00000484952.1_Missense_Mutation_p.A455T|ALAS1_ENST00000310271.2_Missense_Mutation_p.A455T|ALAS1_ENST00000469224.1_Missense_Mutation_p.A455T	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	455					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.A455T(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AGGGTACATCGCCAGCACGAG	0.522																																																1	Substitution - Missense(1)	ovary(1)	3						G	THR/ALA,THR/ALA	0,4406		0,0,2203	162	135	145		1363,1363	4.8	1	3	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALAS1	NM_000688.4,NM_199166.1	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	455/641,455/641	52245331	1,13005	2203	4300	6503	52220371	SO:0001583	missense	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1363G>A	3.37:g.52245331G>A	ENSP00000378416:p.Ala455Thr		52220371		Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347392	0.82022	0.0	1.16E-4	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	5.68	4.81	0.61882	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.051822	0.85682	D	0.000000	D	0.94335	0.8179	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.968;0.968	D	0.93759	0.7065	10	0.48119	T	0.1	-12.4414	10.2021	0.43089	0.0724:0.0:0.7838:0.1439	.	472;455	B4DVA0;P13196	.;HEM1_HUMAN	T	455	ENSP00000417719:A455T;ENSP00000378416:A455T;ENSP00000309259:A455T;ENSP00000418779:A455T	ENSP00000309259:A455T	A	+	1	0	ALAS1	52220371	1.000000	0.71417	0.993000	0.49108	0.745000	0.42441	6.525000	0.73795	1.401000	0.46761	0.650000	0.86243	GCC		0.522	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			A	52245331	G	A	52245331	3	1	381	1	0	0	0	0	1	0	0	0	484	1087	38	1	1393	1	ALAS1	3	52245331	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	6443973	52245331	145777099	12	20739											
ITIH4	3700	hgsc.bcm.edu	37	3	52852496	52852496	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr3:52852496T>C	ENST00000266041.4	-	18	2230	c.2134A>G	c.(2134-2136)Atg>Gtg	p.M712V	ITIH4_ENST00000346281.5_Missense_Mutation_p.M682V|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000485816.1_Missense_Mutation_p.M717V|ITIH4_ENST00000406595.1_Missense_Mutation_p.M682V	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	712					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.M712V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TTCATATTCATGACACGAGAC	0.552																																																1	Substitution - Missense(1)	ovary(1)	3											59	54	56					3																	52852496		2202	4298	6500	52827536	SO:0001583	missense	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2134A>G	3.37:g.52852496T>C	ENSP00000266041:p.Met712Val		52827536	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.072|0.072	-1.200623|-1.200623	0.01581|0.01581	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	.|T;T;T;T	.|0.01406	.|4.98;4.95;4.98;4.93	3.3|3.3	-6.61|-6.61	0.01818|0.01818	.|.	.|.	.|.	.|.	.|.	T|T	0.00815|0.00815	0.0027|0.0027	N|N	0.15975|0.15975	0.35|0.35	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.46871|0.46871	-0.9160|-0.9160	5|9	.|0.06099	.|T	.|0.92	3.4932|3.4932	10.3223|10.3223	0.43773|0.43773	0.0:0.5558:0.3116:0.1326|0.0:0.5558:0.3116:0.1326	.|.	.|682;717;712;682	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	R|V	539|712;682;717;682;670	.|ENSP00000266041:M712V;ENSP00000340520:M682V;ENSP00000417824:M717V;ENSP00000384425:M682V	.|ENSP00000266041:M712V	H|M	-|-	2|1	0|0	ITIH4|ITIH4	52827536|52827536	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-3.797000|-3.797000	0.00364|0.00364	-2.980000|-2.980000	0.00283|0.00283	-0.408000|-0.408000	0.06270|0.06270	CAT|ATG		0.552	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		C	52852496	T	C	52852496	3	2	381	1	0	0	0	0	1	0	0	0	7906	1464	51	4	686	4	ITIH4	3	52852496	Missense_Mutation	SNP	T	TCGA-36-1578-01A-01W-0615-10	607165	52852496	145169934	13	20740											
IMPG2	50939	hgsc.bcm.edu	37	3	101038444	101038444	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr3:101038444C>G	ENST00000193391.7	-	2	505	c.318G>C	c.(316-318)aaG>aaC	p.K106N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	106					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.K106N(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CTTTAAAATACTTCACATGAT	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											141	137	139					3																	101038444		2203	4300	6503	102521134	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.318G>C	3.37:g.101038444C>G	ENSP00000193391:p.Lys106Asn		102521134	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296463	0.40594	.	.	ENSG00000081148	ENST00000193391	T	0.76316	-1.01	5.52	-3.64	0.04515	.	0.131864	0.51477	N	0.000082	T	0.62441	0.2428	L	0.49126	1.545	0.30170	N	0.801336	B	0.20887	0.049	B	0.17433	0.018	T	0.51505	-0.8697	10	0.62326	D	0.03	-6.9647	3.1224	0.06396	0.1085:0.3172:0.1085:0.4658	.	106	Q9BZV3	IMPG2_HUMAN	N	106	ENSP00000193391:K106N	ENSP00000193391:K106N	K	-	3	2	IMPG2	102521134	0.316000	0.24580	0.992000	0.48379	0.662000	0.39071	-0.715000	0.04997	-0.282000	0.09128	-1.114000	0.02060	AAG		0.373	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			G	101038444	C	G	101038444	3	3	381	1	0	0	0	0	1	0	0	0	7729	564	20	3	3479	3	IMPG2	3	101038444	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	48185948	101038444	96983986	14	20741											
OSBPL11	114885	hgsc.bcm.edu	37	3	125271292	125271292	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr3:125271292T>C	ENST00000296220.5	-	9	1676	c.1387A>G	c.(1387-1389)Atg>Gtg	p.M463V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	463					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.M463V(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTTTTTGGCATCTTCCAGGAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											109	99	102					3																	125271292		2203	4300	6503	126753982	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1387A>G	3.37:g.125271292T>C	ENSP00000296220:p.Met463Val		126753982	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	T	0.350	-0.945368	0.02304	.	.	ENSG00000144909	ENST00000296220	T	0.27557	1.66	4.74	1.03	0.20045	.	0.293069	0.39759	N	0.001266	T	0.03477	0.0100	N	0.00036	-2.54	0.39674	D	0.970792	B	0.02656	0.0	B	0.01281	0.0	T	0.37430	-0.9706	10	0.02654	T	1	-21.0904	4.7671	0.13137	0.0:0.2324:0.1507:0.6169	.	463	Q9BXB4	OSB11_HUMAN	V	463	ENSP00000296220:M463V	ENSP00000296220:M463V	M	-	1	0	OSBPL11	126753982	0.292000	0.24362	0.916000	0.36221	0.954000	0.61252	0.339000	0.19875	0.033000	0.15463	0.482000	0.46254	ATG		0.458	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		C	125271292	T	C	125271292	3	2	381	1	0	0	0	0	1	0	0	0	11276	1435	50	4	876	4	OSBPL11	3	125271292	Missense_Mutation	SNP	T	TCGA-36-1578-01A-01W-0615-10	24232848	125271292	72751138	15	20742											
XRN1	54464	hgsc.bcm.edu	37	3	142031519	142031519	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr3:142031519T>C	ENST00000264951.4	-	41	4856	c.4739A>G	c.(4738-4740)cAt>cGt	p.H1580R	XRN1_ENST00000392981.2_Missense_Mutation_p.H1568R	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1580					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.H1580R(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAAAGTATGATGGAAGGGCTT	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											100	103	102					3																	142031519		2203	4300	6503	143514209	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4739A>G	3.37:g.142031519T>C	ENSP00000264951:p.His1580Arg		143514209	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665406	0.47677	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.35421	1.47;1.31	5.32	4.17	0.49024	.	0.184410	0.47455	D	0.000235	T	0.26448	0.0646	L	0.27053	0.805	0.80722	D	1	B;B	0.18166	0.026;0.015	B;B	0.18263	0.021;0.009	T	0.04579	-1.0941	10	0.59425	D	0.04	-4.2872	10.9927	0.47559	0.0:0.0732:0.0:0.9268	.	1568;1580	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	R	1580;1568	ENSP00000264951:H1580R;ENSP00000376707:H1568R	ENSP00000264951:H1580R	H	-	2	0	XRN1	143514209	1.000000	0.71417	0.889000	0.34880	0.936000	0.57629	3.882000	0.56160	0.863000	0.35553	-0.250000	0.11733	CAT		0.448	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		C	142031519	T	C	142031519	3	2	381	1	0	0	0	0	1	0	0	0	17459	1464	51	4	389	4	XRN1	3	142031519	Missense_Mutation	SNP	T	TCGA-36-1578-01A-01W-0615-10	16760227	142031519	55990911	16	20743											
F2R	2149	hgsc.bcm.edu	37	5	76028813	76028813	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr5:76028813C>T	ENST00000319211.4	+	2	1028	c.763C>T	c.(763-765)Cat>Tat	p.H255Y		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	255					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.H255Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CACTACCTGTCATGATGTGCT	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											125	128	127					5																	76028813		2203	4300	6503	76064569	SO:0001583	missense	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.763C>T	5.37:g.76028813C>T	ENSP00000321326:p.His255Tyr		76064569	Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183557	0.57800	.	.	ENSG00000181104	ENST00000319211	T	0.36340	1.26	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	L	0.53617	1.68	0.80722	D	1	P	0.39181	0.663	B	0.38378	0.272	T	0.14172	-1.0482	10	0.45353	T	0.12	-30.0502	12.9278	0.58270	0.0:0.9219:0.0:0.0781	.	255	P25116	PAR1_HUMAN	Y	255	ENSP00000321326:H255Y	ENSP00000321326:H255Y	H	+	1	0	F2R	76064569	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	4.694000	0.61760	2.676000	0.91093	0.561000	0.74099	CAT		0.532	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			T	76028813	C	T	76028813	3	4	381	1	0	0	0	0	1	0	0	0	5343	826	29	2	769	2	F2R	5	76028813	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10		76028813	104886447	17	20744			1	15		3	3	365	C		2.084519e-07
F2R	2149	hgsc.bcm.edu	37	5	76028929	76028929	+	Silent	SNP	C	C	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr5:76028929C>T	ENST00000319211.4	+	2	1144	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	293					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.I293I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATGTGTCTATCATTCGATGTC	0.483																																																1	Substitution - coding silent(1)	ovary(1)	5											153	153	153					5																	76028929		2203	4300	6503	76064685	SO:0001819	synonymous_variant	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.879C>T	5.37:g.76028929C>T			76064685	Q53XV0|Q96RF7|Q9BUN4	Silent	SNP	ENST00000319211.4	37	CCDS4032.1																																																																																				0.483	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			T	76028929	C	T	76028929	2	4	381	1	0	0	0	0	0	0	0	1	5343	816	29	2		2	F2R	5	76028929	Silent	SNP	C	TCGA-36-1578-01A-01W-0615-10	116	76028929	104886331	18	20745			1	15		3	3	365	C		2.084519e-07
F2R	2149	hgsc.bcm.edu	37	5	76029177	76029177	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr5:76029177C>T	ENST00000319211.4	+	2	1392	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	376					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.S376F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TACGCTTCCTCTGAGTGCCAG	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											121	117	119					5																	76029177		2203	4300	6503	76064933	SO:0001583	missense	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.1127C>T	5.37:g.76029177C>T	ENSP00000321326:p.Ser376Phe		76064933	Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221956	0.58560	.	.	ENSG00000181104	ENST00000319211	T	0.39787	1.06	4.92	3.09	0.35607	.	0.054794	0.85682	D	0.000000	T	0.59115	0.2170	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59920	-0.7363	10	0.66056	D	0.02	-22.8745	10.4039	0.44246	0.0:0.7911:0.1354:0.0734	.	376	P25116	PAR1_HUMAN	F	376	ENSP00000321326:S376F	ENSP00000321326:S376F	S	+	2	0	F2R	76064933	1.000000	0.71417	0.600000	0.28864	0.638000	0.38207	5.776000	0.68924	0.743000	0.32719	0.561000	0.74099	TCT		0.483	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			T	76029177	C	T	76029177	3	4	381	1	0	0	0	0	1	0	0	0	5343	913	32	2	1133	2	F2R	5	76029177	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	248	76029177	104886083	19	20746			1	15		3	3	365	C		2.084519e-07
RASGRF2	5924	hgsc.bcm.edu	37	5	80409565	80409565	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr5:80409565C>G	ENST00000265080.4	+	15	2363	c.2296C>G	c.(2296-2298)Ccc>Gcc	p.P766A	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	766					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P766A(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTCCAGCAGTCCCACCACCAC	0.552																																																1	Substitution - Missense(1)	ovary(1)	5											96	95	95					5																	80409565		2203	4300	6503	80445321	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2296C>G	5.37:g.80409565C>G	ENSP00000265080:p.Pro766Ala		80445321	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633838	0.29068	.	.	ENSG00000113319	ENST00000265080	T	0.74209	-0.82	5.31	5.31	0.75309	Ras guanine nucleotide exchange factor, domain (1);	1.744180	0.02751	N	0.117475	T	0.56630	0.1998	N	0.00677	-1.265	0.32874	D	0.509635	P	0.49783	0.928	P	0.45610	0.487	T	0.64136	-0.6478	10	0.13108	T	0.6	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	766	O14827	RGRF2_HUMAN	A	766	ENSP00000265080:P766A	ENSP00000265080:P766A	P	+	1	0	RASGRF2	80445321	0.993000	0.37304	0.812000	0.32479	0.523000	0.34469	4.187000	0.58344	2.498000	0.84270	0.650000	0.86243	CCC		0.552	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		G	80409565	C	G	80409565	3	3	381	1	0	0	0	0	1	0	0	0	13076	855	30	3	2354	3	RASGRF2	5	80409565	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	4380388	80409565	100505695	20	20747											
KDM3B	51780	hgsc.bcm.edu	37	5	137761109	137761109	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr5:137761109G>C	ENST00000314358.5	+	17	4449	c.4249G>C	c.(4249-4251)Gtt>Ctt	p.V1417L	KDM3B_ENST00000394866.1_Missense_Mutation_p.V1073L|KDM3B_ENST00000542866.1_Missense_Mutation_p.V449L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1417					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.V1417L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCAGTGCTGGTTTCGGGGGT	0.483																																																1	Substitution - Missense(1)	ovary(1)	5											54	55	55					5																	137761109		2203	4300	6503	137789008	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4249G>C	5.37:g.137761109G>C	ENSP00000326563:p.Val1417Leu		137789008	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195754	0.94960	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.70164	-0.46;-0.46;-0.46	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.73217	2.22	0.80722	D	1	D;D	0.61697	0.99;0.973	D;P	0.75484	0.986;0.841	D	0.83900	0.0289	10	0.87932	D	0	-20.911	18.6718	0.91514	0.0:0.0:1.0:0.0	.	1073;1417	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	L	1417;1207;1073;449	ENSP00000326563:V1417L;ENSP00000378335:V1073L;ENSP00000439462:V449L	ENSP00000326563:V1417L	V	+	1	0	KDM3B	137789008	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.403000	0.81681	0.563000	0.77884	GTT		0.483	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		C	137761109	G	C	137761109	3	2	381	1	0	0	0	0	1	0	0	0	8127	1261	44	3	4315	3	KDM3B	5	137761109	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	57351544	137761109	43154151	21	20748											
COL11A2	1302	hgsc.bcm.edu	37	6	33154591	33154591	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr6:33154591T>A	ENST00000374708.4	-	5	869	c.611A>T	c.(610-612)gAt>gTt	p.D204V	COL11A2_ENST00000374712.1_Missense_Mutation_p.D204V|COL11A2_ENST00000395194.1_Missense_Mutation_p.D204V|COL11A2_ENST00000395197.1_Missense_Mutation_p.D204V|COL11A2_ENST00000374714.1_Missense_Mutation_p.D204V|COL11A2_ENST00000361917.1_Missense_Mutation_p.D204V|COL11A2_ENST00000341947.2_Missense_Mutation_p.D204V|COL11A2_ENST00000357486.1_Missense_Mutation_p.D204V|COL11A2_ENST00000374713.1_Missense_Mutation_p.D204V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	204	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D204V(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTCCTGGACATCACCCTGCAA	0.542																																					Melanoma(1;90 116 3946 5341 17093)											1	Substitution - Missense(1)	ovary(1)	6											123	118	119					6																	33154591		2203	4300	6503	33262569	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.611A>T	6.37:g.33154591T>A	ENSP00000363840:p.Asp204Val		33262569	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020485	0.75275	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.21	4.21	0.49690	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.067864	0.56097	D	0.000035	D	0.82337	0.5015	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;0.989;0.999	D;P;P;D	0.91635	0.999;0.848;0.848;0.998	D	0.84802	0.0785	10	0.87932	D	0	.	11.5471	0.50700	0.0:0.0:0.0:1.0	.	204;204;204;204	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	V	204	ENSP00000363840:D204V;ENSP00000339915:D204V;ENSP00000350079:D204V;ENSP00000363846:D204V;ENSP00000363845:D204V;ENSP00000378623:D204V;ENSP00000363844:D204V;ENSP00000355123:D204V;ENSP00000405520:D204V;ENSP00000378620:D204V	ENSP00000339915:D204V	D	-	2	0	COL11A2	33262569	1.000000	0.71417	0.982000	0.44146	0.819000	0.46315	6.689000	0.74562	1.896000	0.54893	0.363000	0.22086	GAT		0.542	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			A	33154591	T	A	33154591	3	1	381	1	0	0	0	0	1	0	0	0	3668	1435	50	5	4922	5	COL11A2	6	33154591	Missense_Mutation	SNP	T	TCGA-36-1578-01A-01W-0615-10		33154591	137960476	22	20749											
LRRC1	55227	hgsc.bcm.edu	37	6	53660122	53660122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr6:53660122C>A	ENST00000370888.1	+	1	345	c.68C>A	c.(67-69)tCg>tAg	p.S23*	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Nonsense_Mutation_p.S23*	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	23						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.S23*(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CGCCACTGCTCGCTGGTCTAC	0.682																																																1	Substitution - Nonsense(1)	ovary(1)	6											47	41	43					6																	53660122		2203	4300	6503	53768081	SO:0001587	stop_gained	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.68C>A	6.37:g.53660122C>A	ENSP00000359925:p.Ser23*		53768081	Q5TGN3|Q9HAC0|Q9NVF1	Nonsense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	C	44	11.040790	0.99507	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	.	.	.	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3331	0.83050	0.0:1.0:0.0:0.0	.	.	.	.	X	23	.	ENSP00000359919:S23X	S	+	2	0	LRRC1	53768081	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.819000	0.75262	2.158000	0.67659	0.563000	0.77884	TCG		0.682	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		A	53660122	C	A	53660122	4	1	381	1	0	0	0	0	0	1	0	0	8966	893	31	3	70	3	LRRC1	6	53660122	Nonsense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	20505531	53660122	117454945	23	20750											
DOPEY1	23033	hgsc.bcm.edu	37	6	83823129	83823129	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr6:83823129C>A	ENST00000349129.2	+	7	1029	c.769C>A	c.(769-771)Cac>Aac	p.H257N	DOPEY1_ENST00000237163.5_Missense_Mutation_p.H257N|DOPEY1_ENST00000369739.3_Missense_Mutation_p.H257N|DOPEY1_ENST00000536812.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	257					protein transport (GO:0015031)			p.H257N(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTTTCCATTCCACATGAGTCA	0.373																																																1	Substitution - Missense(1)	ovary(1)	6											147	128	134					6																	83823129		2203	4300	6503	83879848	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.769C>A	6.37:g.83823129C>A	ENSP00000195654:p.His257Asn		83879848	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311550	0.81358	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.26373	1.79;1.76;1.74	5.81	5.81	0.92471	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	L	0.41124	1.26	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	T	0.01951	-1.1241	10	0.41790	T	0.15	.	20.0726	0.97729	0.0:1.0:0.0:0.0	.	257;257	B2RWN9;Q5JWR5	.;DOP1_HUMAN	N	257	ENSP00000195654:H257N;ENSP00000237163:H257N;ENSP00000358754:H257N	ENSP00000237163:H257N	H	+	1	0	DOPEY1	83879848	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.953000	0.70290	2.738000	0.93877	0.655000	0.94253	CAC		0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		A	83823129	C	A	83823129	3	1	381	1	0	0	0	0	1	0	0	0	4707	594	21	3	787	3	DOPEY1	6	83823129	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	30163007	83823129	87291938	24	20751											
C6orf167	253714	hgsc.bcm.edu	37	6	97730274	97730274	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr6:97730274G>A	ENST00000275053.4	-	2	345	c.80C>T	c.(79-81)cCt>cTt	p.P27L	MMS22L_ENST00000369251.2_Missense_Mutation_p.P27L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	27					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.P27L(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGAAAAGTAAGGAGGTTTGCA	0.473																																																1	Substitution - Missense(1)	ovary(1)	6											108	101	104					6																	97730274		2203	4300	6503	97836995	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.80C>T	6.37:g.97730274G>A	ENSP00000275053:p.Pro27Leu		97836995	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009562	0.75046	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.59772	0.24;0.24	5.97	5.97	0.96955	.	0.193484	0.45126	D	0.000397	T	0.52853	0.1760	M	0.63843	1.955	0.80722	D	1	P;P	0.45827	0.867;0.867	B;B	0.44085	0.44;0.44	T	0.59974	-0.7353	10	0.72032	D	0.01	-3.7714	17.5947	0.88007	0.0:0.0:1.0:0.0	.	27;27	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	L	27	ENSP00000275053:P27L;ENSP00000358254:P27L	ENSP00000275053:P27L	P	-	2	0	MMS22L	97836995	1.000000	0.71417	0.947000	0.38551	0.703000	0.40648	6.105000	0.71505	2.836000	0.97738	0.655000	0.94253	CCT		0.473	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		A	97730274	G	A	97730274	3	1	381	1	0	0	0	0	1	0	0	0	2342	1000	35	2	3747	2	C6orf167	6	97730274	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	13907145	97730274	73384793	25	20752											
TBXAS1	6916	hgsc.bcm.edu	37	7	139661920	139661920	+	Missense_Mutation	SNP	C	C	T	rs530584971		TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr7:139661920C>T	ENST00000336425.5	+	13	1411	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V	TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A342V|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A341V|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A274V|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A342V|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A387V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A341V|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A388V|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A342V			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	341					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.A342V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TTCCTCATCGCTGGCTATGAA	0.542													C|||	1	0.000199681	0	0	5008	,	,		18664	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	7											112	93	100					7																	139661920		2203	4300	6503	139308389	SO:0001583	missense	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1022C>T	7.37:g.139661920C>T	ENSP00000338087:p.Ala341Val		139308389	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37		.	.	.	.	.	.	.	.	.	.	C	31	5.080582	0.94050	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.98	5.98	0.97165	.	0.102733	0.64402	D	0.000002	D	0.91580	0.7340	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.99;1.0;0.993;0.987;0.987	D	0.92509	0.6015	10	0.87932	D	0	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	322;388;293;274;342;342;341	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	V	274;342;341;388;342;342;341;387;341	ENSP00000388736:A274V;ENSP00000263552:A342V;ENSP00000338087:A341V;ENSP00000389414:A388V;ENSP00000392361:A342V;ENSP00000392702:A342V;ENSP00000402536:A341V;ENSP00000411274:A387V;ENSP00000411326:A341V	ENSP00000263552:A342V	A	+	2	0	TBXAS1	139308389	0.999000	0.42202	0.960000	0.40013	0.600000	0.36913	4.250000	0.58772	2.838000	0.97847	0.655000	0.94253	GCT		0.542	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			T	139661920	C	T	139661920	3	4	381	1	0	0	0	0	1	0	0	0	15664	797	28	2	1201	2	TBXAS1	7	139661920	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10		139661920	19476743	26	20753											
TOP1MT	116447	hgsc.bcm.edu	37	8	144403385	144403394	+	Frame_Shift_Del	DEL	GCACTCTGTT	GCACTCTGTT	-			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	GCACTCTGTT	GCACTCTGTT	GCACTCTGTT	-	GCACTCTGTT	GCACTCTGTT	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr8:144403385_144403394delGCACTCTGTT	ENST00000329245.4	-	8	1157_1166	c.1123_1132delAACAGAGTGC	c.(1123-1134)aacagagtgccgfs	p.NRVP375fs	TOP1MT_ENST00000523676.1_Frame_Shift_Del_p.NRVP277fs|TOP1MT_ENST00000521193.1_Frame_Shift_Del_p.NRVP277fs|TOP1MT_ENST00000519148.1_Frame_Shift_Del_p.NRVP277fs	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	375					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.N375fs*27(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TTCTCCACCGGCACTCTGTTGTAGTAGCGG	0.643																																																1	Deletion - Frameshift(1)	ovary(1)	8																																								144474769	SO:0001589	frameshift_variant	116447			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1123_1132delAACAGAGTGC	8.37:g.144403385_144403394delGCACTCTGTT	ENSP00000328835:p.Asn375fs		144474760	B7ZAR5|E7ES89|Q86ST4|Q86V82	Frame_Shift_Del	DEL	ENST00000329245.4	37	CCDS6400.1																																																																																				0.643	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		-	144403394	GCACTCTGTT	-	144403385	7	5	381	1	0	1	0	1	0	0	0	0	16364	1203	42	0	701	0	TOP1MT	8	144403385	Frame_Shift_Del	DEL	GCACTCTGTT	TCGA-36-1578-01A-01W-0615-10		144403385	1960637	27	20754											
ACO1	48	hgsc.bcm.edu	37	9	32407428	32407428	+	Splice_Site	SNP	G	G	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr9:32407428G>A	ENST00000309951.6	+	3	404		c.e3+1		ACO1_ENST00000541043.1_Splice_Site|ACO1_ENST00000379923.1_Splice_Site	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.?(3)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGGACTTTACGTGAGCCTAAT	0.388																																																3	Unknown(3)	lung(2)|ovary(1)	9											113	85	95					9																	32407428		2203	4300	6503	32397428	SO:0001630	splice_region_variant	48			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.266+1G>A	9.37:g.32407428G>A			32397428	D3DRK7|Q14652|Q5VZA7	Splice_Site	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512926	0.85389	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1904	0.89805	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACO1	32397428	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.614000	0.98353	2.673000	0.90976	0.650000	0.86243	.		0.388	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197	Intron	A	32407428	G	A	32407428	5	1	381	1	0	0	0	0	0	0	1	0	146	1159	40	1	273	1	ACO1	9	32407428	Splice_Site	SNP	G	TCGA-36-1578-01A-01W-0615-10		32407428	108806003	28	20755											
MYOZ1	58529	hgsc.bcm.edu	37	10	75394423	75394423	+	Nonsense_Mutation	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr10:75394423G>C	ENST00000359322.4	-	4	685	c.321C>G	c.(319-321)taC>taG	p.Y107*		NM_021245.3	NP_067068.1			myozenin 1									p.Y107*(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TGCTCTTGCTGTATGAGAATC	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	10											66	63	64					10																	75394423		2203	4300	6503	75064429	SO:0001587	stop_gained	58529			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.321C>G	10.37:g.75394423G>C	ENSP00000352272:p.Tyr107*		75064429		Nonsense_Mutation	SNP	ENST00000359322.4	37	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588430	0.96590	.	.	ENSG00000177791	ENST00000359322	.	.	.	6.05	2.21	0.28008	.	0.385351	0.27495	N	0.019107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1279	7.6067	0.28105	0.4847:0.0:0.5153:0.0	.	.	.	.	X	107	.	ENSP00000352272:Y107X	Y	-	3	2	MYOZ1	75064429	0.828000	0.29307	0.994000	0.49952	0.915000	0.54546	-0.282000	0.08445	0.638000	0.30545	0.655000	0.94253	TAC		0.582	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			C	75394423	G	C	75394423	4	2	381	1	0	0	0	0	0	1	0	0	10095	1372	48	3	590	3	MYOZ1	10	75394423	Nonsense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10		75394423	60140324	29	20756											
BTAF1	9044	hgsc.bcm.edu	37	10	93719831	93719831	+	Silent	SNP	C	C	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr10:93719831C>T	ENST00000265990.6	+	11	1491	c.1183C>T	c.(1183-1185)Cta>Tta	p.L395L	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	395					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L395L(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GGATGTGCTGCTAAAATTACT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	10											167	164	165					10																	93719831		2203	4300	6503	93709811	SO:0001819	synonymous_variant	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1183C>T	10.37:g.93719831C>T			93709811	B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	CCDS7419.1																																																																																				0.398	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		T	93719831	C	T	93719831	2	4	381	1	0	0	0	0	0	0	0	1	1536	796	28	2		2	BTAF1	10	93719831	Silent	SNP	C	TCGA-36-1578-01A-01W-0615-10	18325408	93719831	41814916	30	20757											
SORCS3	22986	hgsc.bcm.edu	37	10	106970924	106970924	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr10:106970924G>A	ENST00000369701.3	+	17	2518	c.2291G>A	c.(2290-2292)aGc>aAc	p.S764N	SORCS3_ENST00000369699.4_Missense_Mutation_p.S50N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	764					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.S764N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGGGGAGAGCCAGTGTGTC	0.443																																					NSCLC(116;1497 1690 7108 13108 14106)											1	Substitution - Missense(1)	ovary(1)	10											114	95	102					10																	106970924		2203	4300	6503	106960914	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2291G>A	10.37:g.106970924G>A	ENSP00000358715:p.Ser764Asn		106960914	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187895	0.21954	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.31769	2.49;1.48;1.51	5.93	2.57	0.30868	VPS10 (1);	0.222920	0.49305	D	0.000144	T	0.10337	0.0253	N	0.03324	-0.35	0.27945	N	0.937362	B	0.06786	0.001	B	0.06405	0.002	T	0.20174	-1.0283	9	.	.	.	.	3.9291	0.09276	0.2022:0.5028:0.2949:0.0	.	764	Q9UPU3	SORC3_HUMAN	N	764;125;50	ENSP00000358715:S764N;ENSP00000376876:S125N;ENSP00000358713:S50N	.	S	+	2	0	SORCS3	106960914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.320000	0.51991	0.779000	0.33543	0.655000	0.94253	AGC		0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		A	106970924	G	A	106970924	3	1	381	1	0	0	0	0	1	0	0	0	14935	971	34	2	2357	2	SORCS3	10	106970924	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	13251093	106970924	28563823	31	20758											
FGFR2	2263	hgsc.bcm.edu	37	10	123276864	123276864	+	Silent	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr10:123276864G>C	ENST00000358487.5	-	8	1325	c.1053C>G	c.(1051-1053)tcC>tcG	p.S351S	FGFR2_ENST00000478859.1_Silent_p.S123S|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000346997.2_Silent_p.S351S|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000351936.6_Silent_p.S351S|FGFR2_ENST00000356226.4_Silent_p.S236S|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000457416.2_Intron|FGFR2_ENST00000369056.1_Intron|FGFR2_ENST00000357555.5_Silent_p.S262S	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	351	Ig-like C2-type 3.		S -> C (in CS, PS and ABS2). {ECO:0000269|PubMed:10633130, ECO:0000269|PubMed:8946174, ECO:0000269|PubMed:9693549}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.S351S(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CAGAGTGAAAGGATATCCCAA	0.418		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																														Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	1	Substitution - coding silent(1)	ovary(1)	10											127	114	118					10																	123276864		2203	4300	6503	123266854	SO:0001819	synonymous_variant	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1053C>G	10.37:g.123276864G>C			123266854	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	CCDS31298.1																																																																																				0.418	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		C	123276864	G	C	123276864	2	2	381	1	0	0	0	0	0	0	0	1	5866	987	35	3		3	FGFR2	10	123276864	Silent	SNP	G	TCGA-36-1578-01A-01W-0615-10	16305940	123276864	12257883	32	20759											
OR6A2	8590	hgsc.bcm.edu	37	11	6816927	6816927	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr11:6816927T>C	ENST00000332601.3	-	1	201	c.13A>G	c.(13-15)Aac>Gac	p.N5D		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	5					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCACTATGGTTCCGCCACTCC	0.502																																																1	Substitution - Missense(1)	ovary(1)	11											84	71	75					11																	6816927		2201	4296	6497	6773503	SO:0001583	missense	8590			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.13A>G	11.37:g.6816927T>C	ENSP00000330384:p.Asn5Asp		6773503	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361509	0.24684	.	.	ENSG00000184933	ENST00000332601	T	0.63417	-0.04	4.54	4.54	0.55810	.	0.525500	0.17758	N	0.163005	T	0.69797	0.3151	M	0.92268	3.29	0.31033	N	0.717234	B	0.10296	0.003	B	0.10450	0.005	T	0.71632	-0.4534	10	0.45353	T	0.12	.	12.1445	0.54016	0.0:0.0:0.0:1.0	.	5	O95222	OR6A2_HUMAN	D	5	ENSP00000330384:N5D	ENSP00000330384:N5D	N	-	1	0	OR6A2	6773503	0.997000	0.39634	0.709000	0.30452	0.041000	0.13682	3.330000	0.52068	2.042000	0.60477	0.482000	0.46254	AAC		0.502	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		C	6816927	T	C	6816927	3	2	381	1	0	0	0	0	1	0	0	0	11186	1783	62	4	974	4	OR6A2	11	6816927	Missense_Mutation	SNP	T	TCGA-36-1578-01A-01W-0615-10		6816927	128189589	33	20760											
PAX6	5080	hgsc.bcm.edu	37	11	31822359	31822359	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr11:31822359G>C	ENST00000379132.3	-	6	683	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E	PAX6_ENST00000379111.2_Missense_Mutation_p.Q135E|PAX6_ENST00000379123.5_Missense_Mutation_p.Q135E|PAX6_ENST00000379107.2_Missense_Mutation_p.Q149E|PAX6_ENST00000419022.1_Missense_Mutation_p.Q149E|PAX6_ENST00000241001.8_Missense_Mutation_p.Q135E|PAX6_ENST00000379129.2_Missense_Mutation_p.Q149E|PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000379115.4_Missense_Mutation_p.Q149E			P26367	PAX6_HUMAN	paired box 6	135	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.Q149E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CCCATCTGTTGCTTTTCGCTA	0.502									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																							1	Substitution - Missense(1)	ovary(1)	11	GRCh37	CM981470	PAX6	M							138	116	124					11																	31822359		2202	4299	6501	31778935	SO:0001583	missense	5080	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.403C>G	11.37:g.31822359G>C	ENSP00000368427:p.Gln135Glu		31778935	Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	G	8.958	0.969896	0.18659	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000533333;ENST00000455099	D;D;D;D;D;D;D;D;D;D;D	0.98792	-3.15;-3.18;-3.15;-3.15;-3.18;-3.15;-3.18;-3.18;-3.18;-2.89;-5.14	4.35	4.35	0.52113	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.349556	0.31624	N	0.007330	D	0.94640	0.8272	N	0.11789	0.175	0.80722	D	1	B;B	0.15473	0.013;0.0	B;B	0.13407	0.009;0.0	D	0.92445	0.5965	10	0.07175	T	0.84	.	16.845	0.85978	0.0:0.0:1.0:0.0	.	149;135	F1T0F8;P26367	.;PAX6_HUMAN	E	149;135;149;149;135;149;135;135;135;90;82	ENSP00000404100:Q149E;ENSP00000368427:Q135E;ENSP00000368424:Q149E;ENSP00000368401:Q149E;ENSP00000241001:Q135E;ENSP00000368410:Q149E;ENSP00000368406:Q135E;ENSP00000368418:Q135E;ENSP00000368403:Q135E;ENSP00000451372:Q90E;ENSP00000397384:Q82E	ENSP00000241001:Q135E	Q	-	1	0	PAX6	31778935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.219000	0.95173	2.130000	0.65690	0.561000	0.74099	CAA		0.502	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		C	31822359	G	C	31822359	3	2	381	1	0	0	0	0	1	0	0	0	11483	1328	46	3	893	3	PAX6	11	31822359	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	25005432	31822359	103184157	34	20761											
OR8K5	219453	hgsc.bcm.edu	37	11	55927095	55927095	+	Silent	SNP	G	G	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr11:55927095G>T	ENST00000313447.1	-	1	698	c.699C>A	c.(697-699)ggC>ggA	p.G233G		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G233G(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CCTTTTTCCTGCCCTCTGCAG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	11											79	76	77					11																	55927095		2201	4296	6497	55683671	SO:0001819	synonymous_variant	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.699C>A	11.37:g.55927095G>T			55683671	Q6IFB5	Silent	SNP	ENST00000313447.1	37	CCDS31521.1																																																																																				0.403	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		T	55927095	G	T	55927095	2	4	381	1	0	0	0	0	0	0	0	1	11245	1306	46	3		3	OR8K5	11	55927095	Silent	SNP	G	TCGA-36-1578-01A-01W-0615-10	24104736	55927095	79079421	35	20762											
USP28	57646	hgsc.bcm.edu	37	11	113701646	113701646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr11:113701646C>A	ENST00000003302.4	-	9	921	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	USP28_ENST00000537706.1_Nonsense_Mutation_p.E285*|USP28_ENST00000545540.1_Nonsense_Mutation_p.E160*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000544967.1_5'Flank|USP28_ENST00000260188.5_Nonsense_Mutation_p.E285*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	285	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E285*(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATTGGATTTTCAGATTTGTTC	0.383																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											1	Substitution - Nonsense(1)	ovary(1)	11											159	151	154					11																	113701646		2201	4296	6497	113206856	SO:0001587	stop_gained	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.853G>T	11.37:g.113701646C>A	ENSP00000003302:p.Glu285*		113206856	B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	38	6.705431	0.97776	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	.	.	.	4.9	4.9	0.64082	.	0.257634	0.45606	D	0.000359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-19.7349	18.6277	0.91347	0.0:1.0:0.0:0.0	.	.	.	.	X	285;285;160;49;285;184	.	ENSP00000003302:E285X	E	-	1	0	USP28	113206856	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	2.345000	0.44018	2.702000	0.92279	0.462000	0.41574	GAA		0.383	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			A	113701646	C	A	113701646	4	1	381	1	0	0	0	0	0	1	0	0	17058	835	29	3	2448	3	USP28	11	113701646	Nonsense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	57774551	113701646	21304870	36	20763											
PRICKLE1	144165	hgsc.bcm.edu	37	12	42858376	42858376	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr12:42858376C>G	ENST00000455697.1	-	7	1745	c.1460G>C	c.(1459-1461)aGc>aCc	p.S487T	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.S487T|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.S487T|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.S487T|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.S487T	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	487					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S487T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCCTGGGTGGCTGCCATAAGC	0.468																																																1	Substitution - Missense(1)	ovary(1)	12											58	56	57					12																	42858376		2203	4300	6503	41144643	SO:0001583	missense	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1460G>C	12.37:g.42858376C>G	ENSP00000401060:p.Ser487Thr		41144643	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157586	0.78114	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.76	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	N	0.19112	0.55	0.80722	D	1	D	0.62365	0.991	P	0.57846	0.828	T	0.68610	-0.5363	10	0.72032	D	0.01	-1.4014	14.9681	0.71210	0.0:0.9316:0.0:0.0684	.	487	Q96MT3	PRIC1_HUMAN	T	487	ENSP00000401060:S487T;ENSP00000398947:S487T;ENSP00000448359:S487T;ENSP00000345064:S487T;ENSP00000449819:S487T	ENSP00000345064:S487T	S	-	2	0	PRICKLE1	41144643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	1.574000	0.49760	0.650000	0.86243	AGC		0.468	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			G	42858376	C	G	42858376	3	3	381	1	0	0	0	0	1	0	0	0	12489	797	28	3	1043	3	PRICKLE1	12	42858376	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10		42858376	90993519	37	20764											
ARID2	196528	hgsc.bcm.edu	37	12	46244263	46244263	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr12:46244263G>C	ENST00000334344.6	+	15	2529	c.2357G>C	c.(2356-2358)gGc>gCc	p.G786A	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Missense_Mutation_p.G637A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.G396A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	786					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G786A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATCCCTTCAGGCACTCCTGTT	0.448			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	ovary(1)	12											88	77	81					12																	46244263		2203	4300	6503	44530530	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2357G>C	12.37:g.46244263G>C	ENSP00000335044:p.Gly786Ala		44530530	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049079	0.75846	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.38077	1.16	5.83	5.83	0.93111	.	0.101064	0.64402	D	0.000003	T	0.49321	0.1550	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.996	T	0.43750	-0.9372	10	0.42905	T	0.14	-5.0456	20.1152	0.97926	0.0:0.0:1.0:0.0	.	786;396;786	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	786;637;396	ENSP00000335044:G786A	ENSP00000335044:G786A	G	+	2	0	ARID2	44530530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.795000	0.85887	2.750000	0.94351	0.655000	0.94253	GGC		0.448	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		C	46244263	G	C	46244263	3	2	381	1	0	0	0	0	1	0	0	0	915	1203	42	3	2415	3	ARID2	12	46244263	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	3385887	46244263	87607632	38	20765											
KRT85	3891	hgsc.bcm.edu	37	12	52761140	52761141	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr12:52761140_52761141delTT	ENST00000257901.3	-	1	124_125	c.49_50delAA	c.(49-51)aacfs	p.N17fs	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	17	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.N17fs*195(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGCTGAAGTTCCTGGTGACC	0.658																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								51047408	SO:0001589	frameshift_variant	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.49_50delAA	12.37:g.52761140_52761141delTT	ENSP00000257901:p.Asn17fs		51047407	Q9NSB1	Frame_Shift_Del	DEL	ENST00000257901.3	37	CCDS8824.1																																																																																				0.658	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		-	52761141	TT	-	52761140	7	5	381	1	0	1	0	1	0	0	0	0	8499	1725	60	0	1509	0	KRT85	12	52761140	Frame_Shift_Del	DEL	TT	TCGA-36-1578-01A-01W-0615-10	6516877	52761140	81090755	39	20766											
IGFBP6	3489	hgsc.bcm.edu	37	12	53494924	53494924	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr12:53494924G>T	ENST00000301464.3	+	3	853	c.580G>T	c.(580-582)Ggc>Tgc	p.G194C	SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000548547.1_Missense_Mutation_p.G192C	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	194	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)		p.G194C(1)		large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						TGACCATCGAGGCTTCTACCG	0.582																																					Esophageal Squamous(83;1656 1718 30141 34380)											1	Substitution - Missense(1)	ovary(1)	12											114	106	109					12																	53494924		2203	4300	6503	51781191	SO:0001583	missense	3489				CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.580G>T	12.37:g.53494924G>T	ENSP00000301464:p.Gly194Cys		51781191	Q14492	Missense_Mutation	SNP	ENST00000301464.3	37	CCDS8846.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076465	0.76415	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	D;D	0.94758	-3.51;-3.51	4.43	4.43	0.53597	Thyroglobulin type-1 (6);	0.055927	0.64402	D	0.000001	D	0.97782	0.9272	H	0.94620	3.56	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	D	0.97922	1.0315	10	0.87932	D	0	-14.8638	12.8581	0.57897	0.0:0.0:1.0:0.0	.	194	P24592	IBP6_HUMAN	C	192;194	ENSP00000448953:G192C;ENSP00000301464:G194C	ENSP00000301464:G194C	G	+	1	0	IGFBP6	51781191	1.000000	0.71417	0.972000	0.41901	0.937000	0.57800	5.519000	0.67074	2.761000	0.94854	0.655000	0.94253	GGC		0.582	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			T	53494924	G	T	53494924	3	4	381	1	0	0	0	0	1	0	0	0	7583	1000	35	3	590	3	IGFBP6	12	53494924	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	733784	53494924	80356971	40	20767											
DDX54	79039	hgsc.bcm.edu	37	12	113599733	113599733	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr12:113599733G>T	ENST00000306014.5	-	18	2292	c.2265C>A	c.(2263-2265)agC>agA	p.S755R	DDX54_ENST00000314045.7_Missense_Mutation_p.S755R|DDX54_ENST00000549271.1_5'Flank	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	755					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.S755R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGTAGCGGCCGCTCTCTGTCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	12											170	151	158					12																	113599733		2203	4300	6503	112084116	SO:0001583	missense	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2265C>A	12.37:g.113599733G>T	ENSP00000304072:p.Ser755Arg		112084116	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344437	0.61073	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.15834	2.41;2.39	4.74	-4.11	0.03928	DBP10CT (2);	0.102503	0.64402	D	0.000004	T	0.43233	0.1238	M	0.90483	3.12	0.50467	D	0.999877	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	T	0.54788	-0.8241	10	0.72032	D	0.01	.	14.0485	0.64719	0.4385:0.0:0.5615:0.0	.	755;755	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	R	755	ENSP00000323858:S755R;ENSP00000304072:S755R	ENSP00000304072:S755R	S	-	3	2	DDX54	112084116	0.128000	0.22383	0.974000	0.42286	0.508000	0.34012	-0.377000	0.07456	-0.746000	0.04766	-1.564000	0.00881	AGC		0.592	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		T	113599733	G	T	113599733	3	4	381	1	0	0	0	0	1	0	0	0	4372	1078	38	3	395	3	DDX54	12	113599733	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	60104809	113599733	20252162	41	20768											
RDH12	145226	hgsc.bcm.edu	37	14	68200554	68200554	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr14:68200554C>T	ENST00000551171.1	+	9	1264	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	RDH12_ENST00000267502.3_Missense_Mutation_p.R314W|RDH12_ENST00000539142.1_Missense_Mutation_p.R314W	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	314					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)	p.R314W(1)		large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TCTAGGAATCCGGTGGGAGTA	0.537																																																1	Substitution - Missense(1)	ovary(1)	14											60	55	57					14																	68200554		2203	4300	6503	67270307	SO:0001583	missense	145226			AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19977	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 2"	608830	"retinol dehydrogenase 12 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.940C>T	14.37:g.68200554C>T	ENSP00000449079:p.Arg314Trp		67270307	B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202409	0.58234	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.89746	-2.56;-2.56;-2.56	5.81	2.6	0.31112	.	0.293446	0.38111	N	0.001816	T	0.80523	0.4639	L	0.47016	1.485	0.80722	D	1	D	0.54047	0.964	B	0.36766	0.232	T	0.79945	-0.1589	10	0.72032	D	0.01	.	6.2854	0.21031	0.1382:0.6491:0.1341:0.0787	.	314	Q96NR8	RDH12_HUMAN	W	314	ENSP00000449079:R314W;ENSP00000267502:R314W;ENSP00000438715:R314W	ENSP00000267502:R314W	R	+	1	2	RDH12	67270307	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.265000	0.43311	1.432000	0.47375	-0.293000	0.09583	CGG		0.537	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			T	68200554	C	T	68200554	3	4	381	1	0	0	0	0	1	0	0	0	13194	643	23	1	966	1	RDH12	14	68200554	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10		68200554	39148986	42	20769											
TM2D3	80213	hgsc.bcm.edu	37	15	102182761	102182761	+	Missense_Mutation	SNP	A	A	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr15:102182761A>T	ENST00000333202.3	-	6	670	c.665T>A	c.(664-666)cTg>cAg	p.L222Q	TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000561373.1_Missense_Mutation_p.L157Q|TM2D3_ENST00000347970.3_Missense_Mutation_p.L196Q|TM2D3_ENST00000428002.2_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	222						integral component of membrane (GO:0016021)		p.L222Q(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCATATTCCCAGGCCACCGAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	15											84	78	80					15																	102182761		2203	4300	6503	100000284	SO:0001583	missense	80213			AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.665T>A	15.37:g.102182761A>T	ENSP00000330433:p.Leu222Gln		100000284	B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.778790	0.90195	.	.	ENSG00000184277	ENST00000347970;ENST00000333202	.	.	.	5.34	5.34	0.76211	TM2 (1);	0.000000	0.64402	D	0.000001	D	0.86531	0.5955	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.90260	0.4300	9	0.87932	D	0	-21.1322	13.559	0.61777	1.0:0.0:0.0:0.0	.	196;222	Q9BRN9-2;Q9BRN9	.;TM2D3_HUMAN	Q	196;222	.	ENSP00000330433:L222Q	L	-	2	0	TM2D3	100000284	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.007000	0.93597	2.149000	0.67028	0.523000	0.50628	CTG		0.552	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		T	102182761	A	T	102182761	3	4	381	1	0	0	0	0	1	0	0	0	15965	188	7	5	82	5	TM2D3	15	102182761	Missense_Mutation	SNP	A	TCGA-36-1578-01A-01W-0615-10		102182761	348631	43	20770											
BTBD12	84464	hgsc.bcm.edu	37	16	3656512	3656512	+	Silent	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr16:3656512G>C	ENST00000294008.3	-	3	1363	c.723C>G	c.(721-723)gtC>gtG	p.V241V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	241	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.V241V(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GATCCTTTGGGACATTTTCTT	0.512								Direct reversal of damage																																								1	Substitution - coding silent(1)	ovary(1)	16											238	234	235					16																	3656512		2197	4300	6497	3596513	SO:0001819	synonymous_variant	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.723C>G	16.37:g.3656512G>C			3596513	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.512	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		C	3656512	G	C	3656512	2	2	381	1	0	0	0	0	0	0	0	1	1540	1161	41	3		3	BTBD12	16	3656512	Silent	SNP	G	TCGA-36-1578-01A-01W-0615-10		3656512	86698241	44	20771											
SRCAP	10847	hgsc.bcm.edu	37	16	30732196	30732196	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr16:30732196G>C	ENST00000262518.4	+	20	3535	c.3150G>C	c.(3148-3150)atG>atC	p.M1050I	SRCAP_ENST00000344771.4_Missense_Mutation_p.M1050I|SRCAP_ENST00000395059.2_Missense_Mutation_p.M1050I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1050	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.M1050I(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CATCACTGATGGTTTCAGCCT	0.667																																																1	Substitution - Missense(1)	ovary(1)	16											55	56	56					16																	30732196		2197	4300	6497	30639697	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3150G>C	16.37:g.30732196G>C	ENSP00000262518:p.Met1050Ile		30639697	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632606	0.29068	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90563	-2.69;-2.66;-2.66	5.25	5.25	0.73442	.	0.094859	0.47093	D	0.000254	T	0.81403	0.4815	N	0.14661	0.345	0.25326	N	0.989079	B;B;B	0.14012	0.003;0.009;0.002	B;B;B	0.13407	0.002;0.009;0.001	T	0.69720	-0.5069	10	0.45353	T	0.12	-15.7728	9.7153	0.40270	0.0915:0.0:0.9085:0.0	.	1050;1050;1050	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	I	1050	ENSP00000262518:M1050I;ENSP00000378499:M1050I;ENSP00000343042:M1050I	ENSP00000262518:M1050I	M	+	3	0	SRCAP	30639697	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.383000	0.44354	2.729000	0.93468	0.557000	0.71058	ATG		0.667	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		C	30732196	G	C	30732196	3	2	381	1	0	0	0	0	1	0	0	0	15137	1348	47	3	3220	3	SRCAP	16	30732196	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	27075684	30732196	59622557	45	20772											
TM4SF5	9032	hgsc.bcm.edu	37	17	4685821	4685821	+	Silent	SNP	G	G	A	rs368661513		TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr17:4685821G>A	ENST00000270560.3	+	3	313	c.282G>A	c.(280-282)tcG>tcA	p.S94S		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	94						integral component of plasma membrane (GO:0005887)		p.S94S(1)		large_intestine(2)|lung(3)|ovary(1)	6						TCTTCTCCTCGGCGTTCGGGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	17						G		0,4406		0,0,2203	124	111	116		282	-10.1	0	17		116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TM4SF5	NM_003963.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		94/198	4685821	1,13005	2203	4300	6503	4632568	SO:0001819	synonymous_variant	9032			AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"transmembrane 4 superfamily member 5"			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.282G>A	17.37:g.4685821G>A			4632568	Q17RW9|Q6IB79	Silent	SNP	ENST00000270560.3	37	CCDS11054.1																																																																																				0.627	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207558.2			A	4685821	G	A	4685821	2	1	381	1	0	0	0	0	0	0	0	1	15971	1103	39	1		1	TM4SF5	17	4685821	Silent	SNP	G	TCGA-36-1578-01A-01W-0615-10		4685821	76509389	46	20773											
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	381	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	2891299	7577120	73618090	47	20774											
NDC80	10403	hgsc.bcm.edu	37	18	2616527	2616527	+	Frame_Shift_Del	DEL	A	A	-			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr18:2616527delA	ENST00000261597.4	+	17	2065	c.1883delA	c.(1882-1884)gatfs	p.D628fs		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	628	Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.D628fs*9(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAGATTAGAGATAAGTATGAG	0.308																																																1	Deletion - Frameshift(1)	ovary(1)	18											39	42	41					18																	2616527		2198	4280	6478	2606527	SO:0001589	frameshift_variant	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1883delA	18.37:g.2616527delA	ENSP00000261597:p.Asp628fs		2606527	Q6PJX2	Frame_Shift_Del	DEL	ENST00000261597.4	37	CCDS11827.1																																																																																				0.308	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		-	2616527	A	-	2616527	7	5	381	1	0	1	0	1	0	0	0	0	10242	333	12	0	1945	0	NDC80	18	2616527	Frame_Shift_Del	DEL	A	TCGA-36-1578-01A-01W-0615-10		2616527	75460721	48	20775											
VAV1	7409	hgsc.bcm.edu	37	19	6828900	6828900	+	Silent	SNP	C	C	G			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr19:6828900C>G	ENST00000602142.1	+	13	1336	c.1254C>G	c.(1252-1254)tcC>tcG	p.S418S	VAV1_ENST00000596764.1_Silent_p.S386S|VAV1_ENST00000539284.1_Silent_p.S321S|VAV1_ENST00000599806.1_Silent_p.S363S|VAV1_ENST00000304076.2_Silent_p.S418S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	418	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S418S(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AACGGCGCTCCAAGATGGACA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	19											51	42	45					19																	6828900		2203	4300	6503	6779900	SO:0001819	synonymous_variant	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1254C>G	19.37:g.6828900C>G			6779900	B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	CCDS12174.1																																																																																				0.602	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			G	6828900	C	G	6828900	2	3	381	1	0	0	0	0	0	0	0	1	17131	581	21	3		3	VAV1	19	6828900	Silent	SNP	C	TCGA-36-1578-01A-01W-0615-10		6828900	52300083	49	20776											
BCR	613	hgsc.bcm.edu	37	22	23634794	23634794	+	Missense_Mutation	SNP	A	A	T			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr22:23634794A>T	ENST00000305877.8	+	15	3600	c.2849A>T	c.(2848-2850)tAc>tTc	p.Y950F	BCR_ENST00000359540.3_Missense_Mutation_p.Y950F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	950	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y950F(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	ACGCGCGTCTACAGGGACACA	0.522			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	1	Substitution - Missense(1)	ovary(1)	22											130	122	125					22																	23634794		2203	4300	6503	21964794	SO:0001583	missense	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2849A>T	22.37:g.23634794A>T	ENSP00000303507:p.Tyr950Phe		21964794	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800820	0.31869	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.79845	1.11;-1.31	4.71	4.71	0.59529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	N	0.16478	0.41	0.80722	D	1	B;B;B	0.23442	0.006;0.069;0.085	B;B;B	0.29440	0.021;0.062;0.102	T	0.61778	-0.6993	10	0.13470	T	0.59	.	13.6678	0.62407	1.0:0.0:0.0:0.0	.	539;950;950	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	F	950;950;615	ENSP00000303507:Y950F;ENSP00000352535:Y950F	ENSP00000303507:Y950F	Y	+	2	0	BCR	21964794	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	4.745000	0.62125	1.895000	0.54865	0.460000	0.39030	TAC		0.522	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		T	23634794	A	T	23634794	3	4	381	1	0	0	0	0	1	0	0	0	1388	391	14	5	2907	5	BCR	22	23634794	Missense_Mutation	SNP	A	TCGA-36-1578-01A-01W-0615-10		23634794	27669772	50	20777											
NCF4	4689	hgsc.bcm.edu	37	22	37263466	37263466	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr22:37263466G>A	ENST00000248899.6	+	4	488	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.A102T|CTA-833B7.2_ENST00000330602.2_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	102	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.A102T(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	ACAGGAGATCGCCGAGATGCG	0.607																																																1	Substitution - Missense(1)	ovary(1)	22											105	73	84					22																	37263466		2203	4300	6503	35593412	SO:0001583	missense	4689			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.304G>A	22.37:g.37263466G>A	ENSP00000248899:p.Ala102Thr		35593412	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488259	0.84854	.	.	ENSG00000100365	ENST00000248899;ENST00000397147	T;T	0.40476	1.03;1.03	4.64	4.64	0.57946	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63677	-0.6583	10	0.51188	T	0.08	-23.2504	17.0944	0.86631	0.0:0.0:1.0:0.0	.	102;102	A8K4F9;Q15080	.;NCF4_HUMAN	T	102	ENSP00000248899:A102T;ENSP00000380334:A102T	ENSP00000248899:A102T	A	+	1	0	NCF4	35593412	1.000000	0.71417	0.584000	0.28653	0.932000	0.56968	7.929000	0.87595	2.125000	0.65367	0.650000	0.86243	GCC		0.607	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		A	37263466	G	A	37263466	3	1	381	1	0	0	0	0	1	0	0	0	10218	1087	38	1	318	1	NCF4	22	37263466	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	13628672	37263466	14041100	51	20778											
GTPBP1	9567	hgsc.bcm.edu	37	22	39112841	39112841	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chr22:39112841G>C	ENST00000216044.5	+	4	903	c.670G>C	c.(670-672)Gta>Cta	p.V224L		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	224	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.V224L(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGAAGGCAATGTAGTGAACAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	22											128	107	114					22																	39112841		2203	4300	6503	37442787	SO:0001583	missense	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.670G>C	22.37:g.39112841G>C	ENSP00000216044:p.Val224Leu		37442787	Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504023	0.64410	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.48836	1.35;0.8	4.92	4.92	0.64577	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.74389	2.26	0.80722	D	1	B	0.28350	0.208	B	0.34385	0.181	T	0.58070	-0.7701	10	0.48119	T	0.1	.	18.1025	0.89510	0.0:0.0:1.0:0.0	.	224	O00178	GTPB1_HUMAN	L	224;143	ENSP00000216044:V224L;ENSP00000442881:V143L	ENSP00000216044:V224L	V	+	1	0	GTPBP1	37442787	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.814000	0.99346	2.251000	0.74343	0.448000	0.29417	GTA		0.522	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		C	39112841	G	C	39112841	3	2	381	1	0	0	0	0	1	0	0	0	6878	1377	48	3	684	3	GTPBP1	22	39112841	Missense_Mutation	SNP	G	TCGA-36-1578-01A-01W-0615-10	1849375	39112841	12191725	52	20779											
ZNF630	57232	hgsc.bcm.edu	37	X	47918885	47918885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chrX:47918885C>A	ENST00000409324.3	-	5	1172	c.946G>T	c.(946-948)Gag>Tag	p.E316*	ZNF630_ENST00000276054.4_Nonsense_Mutation_p.E192*|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Nonsense_Mutation_p.E302*	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	316					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.E316*(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TAGGGTTTCTCCCCAGTATGA	0.428																																																1	Substitution - Nonsense(1)	ovary(1)	X											62	55	58					X																	47918885		2195	4290	6485	47803829	SO:0001587	stop_gained	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.946G>T	X.37:g.47918885C>A	ENSP00000386393:p.Glu316*		47803829	F8WAG4|Q5H8Z5	Nonsense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	28.7	4.943849	0.92593	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.8164	0.40856	0.0:1.0:0.0:0.0	.	.	.	.	X	302;192;316	.	ENSP00000354683:E192X	E	-	1	0	ZNF630	47803829	0.992000	0.36948	0.631000	0.29282	0.561000	0.35649	3.033000	0.49743	1.179000	0.42884	0.544000	0.68410	GAG		0.428	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		A	47918885	C	A	47918885	4	1	381	1	0	0	0	0	0	1	0	0	18054	864	30	3	1031	3	ZNF630	23	47918885	Nonsense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10		47918885	107351675	53	20780											
SLC7A3	84889	hgsc.bcm.edu	37	X	70145724	70145724	+	Missense_Mutation	SNP	C	C	T	rs147665669	byFrequency	TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chrX:70145724C>T	ENST00000374299.3	-	12	1943	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R600H			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	600					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.R600H(3)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTAGACTTGCGTGAGGGTTG	0.512													C|||	3	0.000794702	0	0.0014	3775	,	,		15019	0		0.002	False		,,,				2504	0															3	Substitution - Missense(3)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	X						C	HIS/ARG,HIS/ARG	0,3835		0,0,0,1632,571	248	191	210		1799,1799	-3.8	0	X	dbSNP_134	210	7,6721		0,6,1,2422,1871	yes	missense,missense	SLC7A3	NM_001048164.2,NM_032803.5	29,29	0,6,1,4054,2442	TT,TC,T,CC,C		0.104,0.0,0.0663	benign,benign	600/620,600/620	70145724	7,10556	2203	4300	6503	70062449	SO:0001583	missense	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1799G>A	X.37:g.70145724C>T	ENSP00000363417:p.Arg600His		70062449	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	2	0.0012055455093429777	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	10.66	1.412292	0.25465	0.0	0.00104	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88046	-2.33;-2.33	4.43	-3.81	0.04294	.	1.491430	0.03535	N	0.223099	T	0.72819	0.3508	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.60786	-0.7194	10	0.45353	T	0.12	.	6.7819	0.23650	0.491:0.3784:0.1306:0.0	.	600	Q8WY07	CTR3_HUMAN	H	600	ENSP00000363417:R600H;ENSP00000298085:R600H	ENSP00000298085:R600H	R	-	2	0	SLC7A3	70062449	0.090000	0.21635	0.000000	0.03702	0.022000	0.10575	-0.002000	0.12924	-0.767000	0.04633	-0.545000	0.04230	CGC		0.512	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		T	70145724	C	T	70145724	3	4	381	1	0	0	0	0	1	0	0	0	14701	768	27	1	64	1	SLC7A3	23	70145724	Missense_Mutation	SNP	C	TCGA-36-1578-01A-01W-0615-10	22226839	70145724	85124836	54	20781											
ATP6AP1	537	hgsc.bcm.edu	37	X	153662732	153662732	+	Missense_Mutation	SNP	T	T	G			TCGA-36-1578-01A-01W-0615-10	TCGA-36-1578-10A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	23ad6b87-8eaf-46db-871e-774cd2b39ca6	89e95441-9be4-4499-9885-c461287e8922	g.chrX:153662732T>G	ENST00000369762.2	+	7	924	c.863T>G	c.(862-864)cTc>cGc	p.L288R	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	288					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.L288R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGACTCCCCTCACCTTTGGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	X											123	103	110					X																	153662732		2203	4300	6503	153315926	SO:0001583	missense	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.863T>G	X.37:g.153662732T>G	ENSP00000358777:p.Leu288Arg		153315926	A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165671	0.38217	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.49	-1.74	0.08056	.	1.228710	0.05262	N	0.515940	T	0.19685	0.0473	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.11329	0.006;0.006	T	0.14755	-1.0461	9	0.15499	T	0.54	-1.9916	2.0956	0.03667	0.1311:0.1595:0.3985:0.3109	.	248;288	B3KR70;Q15904	.;VAS1_HUMAN	R	288;218;112	.	ENSP00000358777:L288R	L	+	2	0	ATP6AP1	153315926	0.000000	0.05858	0.005000	0.12908	0.847000	0.48162	-0.480000	0.06559	-0.726000	0.04895	0.430000	0.28490	CTC		0.582	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		G	153662732	T	G	153662732	3	3	381	1	0	0	0	0	1	0	0	0	1165	1551	54	5	889	5	ATP6AP1	23	153662732	Missense_Mutation	SNP	T	TCGA-36-1578-01A-01W-0615-10	83517008	153662732	1607828	55	20782											
ETV3L	440695	hgsc.bcm.edu	37	1	157062896	157062896	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr1:157062896A>G	ENST00000454449.2	-	5	915	c.631T>C	c.(631-633)Tgc>Cgc	p.C211R		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	211					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.C211R(1)|p.C211G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCCAGCCGGCAGGGGCCTGGG	0.632																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											4	5	4					1																	157062896		1989	4011	6000	155329520	SO:0001583	missense	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.631T>C	1.37:g.157062896A>G	ENSP00000430271:p.Cys211Arg		155329520		Missense_Mutation	SNP	ENST00000454449.2	37	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	A	4.247	0.044821	0.08196	.	.	ENSG00000253831	ENST00000454449	T	0.08634	3.07	4.28	1.83	0.25207	.	.	.	.	.	T	0.01592	0.0051	L	0.29908	0.895	0.09310	N	0.999999	P	0.40476	0.718	B	0.36030	0.216	T	0.46816	-0.9164	9	0.25751	T	0.34	.	5.2823	0.15682	0.6342:0.1938:0.0:0.1719	.	211	Q6ZN32	ETV3L_HUMAN	R	211	ENSP00000430271:C211R	ENSP00000430271:C211R	C	-	1	0	ETV3L	155329520	0.272000	0.24172	0.001000	0.08648	0.397000	0.30659	1.682000	0.37628	0.164000	0.19529	0.459000	0.35465	TGC		0.632	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		G	157062896	A	G	157062896	3	3	382	1	0	0	0	0	1	0	0	0	5280	188	7	4	458	4	ETV3L	1	157062896	Missense_Mutation	SNP	A	TCGA-36-1580-01A-01W-0615-10		157062896	92187725	1	20783											
C2orf44	80304	hgsc.bcm.edu	37	2	24261806	24261806	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr2:24261806C>T	ENST00000295148.4	-	2	616	c.559G>A	c.(559-561)Gct>Act	p.A187T	C2orf44_ENST00000406895.3_Missense_Mutation_p.A187T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	187								p.A187T(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTTCTGAGCGCTGTCCCAA	0.562			T	ALK	NSCLC																																		Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	1	Substitution - Missense(1)	ovary(1)	2											53	48	49					2																	24261806		2203	4300	6503	24115310	SO:0001583	missense	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.559G>A	2.37:g.24261806C>T	ENSP00000295148:p.Ala187Thr		24115310	D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761961	0.31228	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.05786	3.39;3.39	5.24	-2.25	0.06888	WD40/YVTN repeat-like-containing domain (1);	0.493224	0.24316	N	0.039585	T	0.02649	0.0080	L	0.39633	1.23	0.22127	N	0.999346	B;P	0.38078	0.36;0.617	B;B	0.24155	0.051;0.051	T	0.42649	-0.9439	10	0.21014	T	0.42	-2.1631	0.7811	0.01041	0.2741:0.3115:0.2148:0.1995	.	187;187	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	T	187	ENSP00000295148:A187T;ENSP00000385816:A187T	ENSP00000295148:A187T	A	-	1	0	C2orf44	24115310	0.351000	0.24887	0.729000	0.30791	0.862000	0.49288	-0.142000	0.10311	-0.075000	0.12798	0.655000	0.94253	GCT		0.562	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		T	24261806	C	T	24261806	3	4	382	1	0	0	0	0	1	0	0	0	2168	768	27	1	1618	1	C2orf44	2	24261806	Missense_Mutation	SNP	C	TCGA-36-1580-01A-01W-0615-10		24261806	218937567	2	20784											
WDR53	348793	hgsc.bcm.edu	37	3	196281623	196281623	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr3:196281623T>C	ENST00000332629.5	-	4	1103	c.536A>G	c.(535-537)gAg>gGg	p.E179G	WDR53_ENST00000433160.1_Missense_Mutation_p.E20G|WDR53_ENST00000429115.1_Missense_Mutation_p.E18G	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	179								p.E179G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TGTTTCATCCTCCTGTAAATT	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											98	102	101					3																	196281623		2203	4300	6503	197766020	SO:0001583	missense	348793			BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"WD repeat domain containing"	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.536A>G	3.37:g.196281623T>C	ENSP00000328079:p.Glu179Gly		197766020	A0MNP1	Missense_Mutation	SNP	ENST00000332629.5	37	CCDS3318.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.974373	0.92919	.	.	ENSG00000185798	ENST00000332629;ENST00000429115;ENST00000433160	T;T;T	0.29142	1.66;1.58;1.58	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.178092	0.48767	D	0.000166	T	0.38108	0.1028	N	0.19112	0.55	0.50813	D	0.999892	D	0.71674	0.998	P	0.61940	0.896	T	0.13710	-1.0499	10	0.32370	T	0.25	-20.0277	16.4484	0.83959	0.0:0.0:0.0:1.0	.	179	Q7Z5U6	WDR53_HUMAN	G	179;18;20	ENSP00000328079:E179G;ENSP00000396668:E18G;ENSP00000410677:E20G	ENSP00000328079:E179G	E	-	2	0	WDR53	197766020	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.318000	0.79029	2.285000	0.76669	0.533000	0.62120	GAG		0.428	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		C	196281623	T	C	196281623	3	2	382	1	0	0	0	0	1	0	0	0	17305	1551	54	4	544	4	WDR53	3	196281623	Missense_Mutation	SNP	T	TCGA-36-1580-01A-01W-0615-10		196281623	1740807	3	20785											
UGT3A2	167127	hgsc.bcm.edu	37	5	36035828	36035828	+	Missense_Mutation	SNP	C	C	T	rs138640717		TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr5:36035828C>T	ENST00000282507.3	-	7	1645	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	UGT3A2_ENST00000513300.1_Missense_Mutation_p.R481H|UGT3A2_ENST00000545528.1_Missense_Mutation_p.R213H	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	515			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.R515H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGGCCCCACGCAGCCACCA	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		16592	0		0	False		,,,				2504	0															2	Substitution - Missense(2)	large_intestine(1)|ovary(1)	5						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	54	49	50		1442,1544	1.9	0	5	dbSNP_134	50	0,8600		0,0,4300	no	missense,missense	UGT3A2	NM_001168316.1,NM_174914.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	481/490,515/524	36035828	1,13005	2203	4300	6503	36071585	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1544G>A	5.37:g.36035828C>T	ENSP00000282507:p.Arg515His		36071585	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348701	0.41599	2.27E-4	0.0	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;D	0.84370	-0.05;-0.26;-1.84	2.74	1.86	0.25419	.	1.785430	0.04311	U	0.348945	D	0.82572	0.5066	N	0.19112	0.55	0.09310	N	1	D;D	0.65815	0.995;0.963	P;P	0.55545	0.778;0.59	T	0.71467	-0.4584	10	0.15499	T	0.54	.	9.1893	0.37189	0.0:0.8812:0.0:0.1188	.	481;515	E9PFK7;Q3SY77	.;UD3A2_HUMAN	H	515;481;213	ENSP00000282507:R515H;ENSP00000427404:R481H;ENSP00000445367:R213H	ENSP00000282507:R515H	R	-	2	0	UGT3A2	36071585	0.000000	0.05858	0.032000	0.17829	0.067000	0.16453	0.781000	0.26774	0.712000	0.32039	0.563000	0.77884	CGT		0.577	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		T	36035828	C	T	36035828	3	4	382	1	0	0	0	0	1	0	0	0	16964	536	19	1	31	1	UGT3A2	5	36035828	Missense_Mutation	SNP	C	TCGA-36-1580-01A-01W-0615-10		36035828	144879432	4	20786											
TMEM130	222865	hgsc.bcm.edu	37	7	98446205	98446205	+	Splice_Site	SNP	C	C	A	rs181956486		TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr7:98446205C>A	ENST00000416379.2	-	7	1124		c.e7+1		TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000450876.1_Splice_Site|TMEM130_ENST00000339375.4_Splice_Site|TMEM130_ENST00000546258.1_Splice_Site|TMEM130_ENST00000345589.4_Splice_Site			Q8N3G9	TM130_HUMAN	transmembrane protein 130							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGTACCCACCTCCACCATG	0.552																																																1	Unknown(1)	ovary(1)	7											128	112	117					7																	98446205		2203	4300	6503	98284141	SO:0001630	splice_region_variant	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1119+1G>T	7.37:g.98446205C>A			98284141	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Splice_Site	SNP	ENST00000416379.2	37	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157222	0.57259	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8572	0.63534	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM130	98284141	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.069000	0.57541	2.342000	0.79632	0.462000	0.41574	.		0.552	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	Intron	A	98446205	C	A	98446205	5	1	382	1	0	0	0	0	0	0	1	0	16043	521	18	3	195	3	TMEM130	7	98446205	Splice_Site	SNP	C	TCGA-36-1580-01A-01W-0615-10		98446205	60692458	5	20787											
CNTF	1270	hgsc.bcm.edu	37	11	58391865	58391865	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr11:58391865G>A	ENST00000361987.4	+	2	553	c.473G>A	c.(472-474)gGc>gAc	p.G158D	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	158					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)	p.G158D(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGCTGTGGGGCCTAAAGGTG	0.498																																																1	Substitution - Missense(1)	ovary(1)	11											108	107	108					11																	58391865		2201	4295	6496	58148441	SO:0001583	missense	1270			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.473G>A	11.37:g.58391865G>A	ENSP00000355370:p.Gly158Asp		58148441	B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488096	0.84854	.	.	ENSG00000242689	ENST00000361987	T	0.69685	-0.42	5.48	5.48	0.80851	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.81178	0.4768	M	0.69823	2.125	0.47698	D	0.999494	D	0.89917	1.0	D	0.97110	1.0	T	0.82946	-0.0205	9	0.87932	D	0	-12.9982	16.2686	0.82603	0.0:0.0:1.0:0.0	.	158	P26441	CNTF_HUMAN	D	158	ENSP00000355370:G158D	ENSP00000447778:G158D	G	+	2	0	CNTF	58148441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.201000	0.72124	2.575000	0.86900	0.650000	0.86243	GGC		0.498	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		A	58391865	G	A	58391865	3	1	382	1	0	0	0	0	1	0	0	0	3637	1203	42	2	479	2	CNTF	11	58391865	Missense_Mutation	SNP	G	TCGA-36-1580-01A-01W-0615-10		58391865	76614651	6	20788											
TBX5	6910	hgsc.bcm.edu	37	12	114839706	114839706	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr12:114839706A>G	ENST00000310346.4	-	3	833	c.167T>C	c.(166-168)gTg>gCg	p.V56A	TBX5_ENST00000526441.1_Missense_Mutation_p.V56A|TBX5_ENST00000349716.5_Missense_Mutation_p.V6A|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.V56A	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	56					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V56A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ATGGAGAAACACTTTGATTCC	0.473																																					NSCLC(152;1358 1980 4050 23898 40356)											1	Substitution - Missense(1)	ovary(1)	12											144	119	127					12																	114839706		2203	4300	6503	113324089	SO:0001583	missense	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.167T>C	12.37:g.114839706A>G	ENSP00000309913:p.Val56Ala		113324089	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464672	0.84425	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440;ENST00000526441	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.07	5.07	0.68467	p53-like transcription factor, DNA-binding (1);	0.061576	0.64402	D	0.000004	D	0.95677	0.8594	M	0.74467	2.265	0.80722	D	1	D;P	0.57899	0.981;0.938	P;P	0.60789	0.879;0.86	D	0.95970	0.8969	10	0.66056	D	0.02	.	14.0375	0.64654	1.0:0.0:0.0:0.0	.	56;56	Q99593-2;Q99593	.;TBX5_HUMAN	A	6;56;56;56	ENSP00000337723:V6A;ENSP00000309913:V56A;ENSP00000384152:V56A;ENSP00000433292:V56A	ENSP00000309913:V56A	V	-	2	0	TBX5	113324089	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.805000	0.91925	1.912000	0.55364	0.459000	0.35465	GTG		0.473	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		G	114839706	A	G	114839706	3	3	382	1	0	0	0	0	1	0	0	0	15661	159	6	4	1484	4	TBX5	12	114839706	Missense_Mutation	SNP	A	TCGA-36-1580-01A-01W-0615-10		114839706	19012189	7	20789											
TP53	7157	hgsc.bcm.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	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	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	382	1	0	0	0	0	1	0	0	0	16381	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-36-1580-01A-01W-0615-10		7577121	73618089	8	20790											
ACOX1	51	hgsc.bcm.edu	37	17	73945442	73945442	+	Splice_Site	SNP	C	C	G			TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr17:73945442C>G	ENST00000301608.4	-	12	1645		c.e12-1		ACOX1_ENST00000293217.5_Splice_Site|ACOX1_ENST00000537812.1_Splice_Site	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)	p.?(1)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GGCAATGTGCCTAAGATTAAA	0.388																																																1	Unknown(1)	ovary(1)	17											86	90	88					17																	73945442		2203	4300	6503	71457037	SO:0001630	splice_region_variant	51			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1585-1G>C	17.37:g.73945442C>G			71457037	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Splice_Site	SNP	ENST00000301608.4	37	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309589	0.81247	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACOX1	71457037	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.126000	0.77201	2.689000	0.91719	0.655000	0.94253	.		0.388	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1		Intron	G	73945442	C	G	73945442	5	3	382	1	0	0	0	0	0	0	1	0	158	695	24	3	410	3	ACOX1	17	73945442	Splice_Site	SNP	C	TCGA-36-1580-01A-01W-0615-10	66368321	73945442	7249768	9	20791											
NLRP4	147945	hgsc.bcm.edu	37	19	56369444	56369444	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr19:56369444G>A	ENST00000301295.6	+	3	1107	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	NLRP4_ENST00000346986.5_Missense_Mutation_p.V229I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V154I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	229	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.V229I(3)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACTCTTGTTCGTCATCGACAG	0.557																																																3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	19											81	80	81					19																	56369444		2203	4300	6503	61061256	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.685G>A	19.37:g.56369444G>A	ENSP00000301295:p.Val229Ile		61061256	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.491014	0.01009	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83992	-1.79;-1.79	4.1	-2.63	0.06133	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.51568	0.1682	N	0.02854	-0.475	0.23876	N	0.996597	B;B;B	0.27997	0.0;0.0;0.197	B;B;B	0.24006	0.0;0.001;0.05	T	0.50947	-0.8767	9	0.02654	T	1	.	4.8964	0.13753	0.448:0.2809:0.271:0.0	.	229;154;229	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	229	ENSP00000301295:V229I;ENSP00000344787:V229I	ENSP00000301295:V229I	V	+	1	0	NLRP4	61061256	0.159000	0.22864	0.009000	0.14445	0.166000	0.22503	-0.124000	0.10595	-0.811000	0.04369	-0.302000	0.09304	GTC		0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56369444	G	A	56369444	3	1	382	1	0	0	0	0	1	0	0	0	10479	1145	40	1	691	1	NLRP4	19	56369444	Missense_Mutation	SNP	G	TCGA-36-1580-01A-01W-0615-10		56369444	2759539	10	20792											
PROKR2	128674	hgsc.bcm.edu	37	20	5294732	5294732	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chr20:5294732A>G	ENST00000217270.3	-	1	283	c.284T>C	c.(283-285)cTg>cCg	p.L95P	PROKR2_ENST00000546004.1_Missense_Mutation_p.L95P	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	95					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.L95P(3)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGAGATGGCCAGGTTGGCAAT	0.567										HNSCC(71;0.22)																																						3	Substitution - Missense(3)	liver(2)|ovary(1)	20											181	140	154					20																	5294732		2203	4300	6503	5242732	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.284T>C	20.37:g.5294732A>G	ENSP00000217270:p.Leu95Pro		5242732	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188917	0.78789	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	D;D	0.91521	-2.86;-2.86	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.96959	0.9007	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98074	1.0400	10	0.87932	D	0	.	13.5109	0.61511	1.0:0.0:0.0:0.0	.	95	Q8NFJ6	PKR2_HUMAN	P	95	ENSP00000440790:L95P;ENSP00000217270:L95P	ENSP00000217270:L95P	L	-	2	0	PROKR2	5242732	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.252000	0.95491	2.130000	0.65690	0.533000	0.62120	CTG		0.567	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		G	5294732	A	G	5294732	3	3	382	1	0	0	0	0	1	0	0	0	12556	188	7	4	877	4	PROKR2	20	5294732	Missense_Mutation	SNP	A	TCGA-36-1580-01A-01W-0615-10		5294732	57730788	11	20793											
AGTR2	186	hgsc.bcm.edu	37	X	115304185	115304185	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1580-01A-01W-0615-10	TCGA-36-1580-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	1b94f92d-4656-481b-8cbb-c978c99a1f60	cf77035e-5481-42e9-a34f-c0451c7b1b37	g.chrX:115304185C>A	ENST00000371906.4	+	3	842	c.652C>A	c.(652-654)Ctt>Att	p.L218I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	218					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.L218I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	GAAAAATATCCTTGGTTTTAT	0.378																																																1	Substitution - Missense(1)	ovary(1)	X											105	93	97					X																	115304185		2203	4300	6503	115218213	SO:0001583	missense	186			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.652C>A	X.37:g.115304185C>A	ENSP00000360973:p.Leu218Ile		115218213	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761192	0.49468	.	.	ENSG00000180772	ENST00000371906	T	0.39406	1.08	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.59932	0.2230	L	0.60012	1.86	0.42978	D	0.994457	D	0.89917	1.0	D	0.78314	0.991	T	0.63932	-0.6525	10	0.72032	D	0.01	-12.379	14.152	0.65392	0.0:1.0:0.0:0.0	.	218	P50052	AGTR2_HUMAN	I	218	ENSP00000360973:L218I	ENSP00000360973:L218I	L	+	1	0	AGTR2	115218213	0.117000	0.22190	1.000000	0.80357	0.985000	0.73830	0.649000	0.24843	2.210000	0.71456	0.506000	0.49869	CTT		0.378	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		A	115304185	C	A	115304185	3	1	382	1	0	0	0	0	1	0	0	0	402	681	24	3	654	3	AGTR2	23	115304185	Missense_Mutation	SNP	C	TCGA-36-1580-01A-01W-0615-10		115304185	39966375	12	20794											
CHD5	26038	genome.wustl.edu	37	1	6170036	6170036	+	Silent	SNP	C	C	T	rs376607024		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr1:6170036C>T	ENST00000262450.3	-	38	5496	c.5397G>A	c.(5395-5397)gcG>gcA	p.A1799A	CHD5_ENST00000378021.1_Silent_p.A656A	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAATGACCAACGCCTGCTCCA	0.716																																																0			1											21	23	22					1																	6170036		2200	4296	6496	6092623	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5397G>A	1.37:g.6170036C>T			6092623	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																				0.716	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6170036	C	T	6170036	2	4	383	1	0	0	0	0	0	0	0	1	3328	523	19	1		1	CHD5	1	6170036	Silent	SNP	C	TCGA-36-2530-01A-01D-1526-09		6170036	243080585	1	20795											
MAN1C1	57134	genome.wustl.edu	37	1	26079974	26079974	+	Splice_Site	SNP	G	G	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr1:26079974G>T	ENST00000374332.4	+	5	1164		c.e5-1		MAN1C1_ENST00000263979.3_Splice_Site|MAN1C1_ENST00000374329.1_Splice_Site|MAN1C1_ENST00000473891.1_Splice_Site	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CTCCTTTACAGGTGTTCCGAA	0.587																																																0			1											48	43	45					1																	26079974		2203	4300	6503	25952561	SO:0001630	splice_region_variant	57134			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.835-1G>T	1.37:g.26079974G>T			25952561	A6NNE2|B2RNP2|Q9Y545	Splice_Site	SNP	ENST00000374332.4	37	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923876	0.73213	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	.	.	.	4.93	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5501	0.50716	0.085:0.0:0.915:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAN1C1	25952561	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	8.617000	0.90927	1.202000	0.43218	0.561000	0.74099	.		0.587	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379	Intron	T	26079974	G	T	26079974	5	4	383	1	0	0	0	0	0	0	1	0	9213	1014	35	3	852	3	MAN1C1	1	26079974	Splice_Site	SNP	G	TCGA-36-2530-01A-01D-1526-09	19909938	26079974	223170647	2	20796											
PUM1	9698	genome.wustl.edu	37	1	31532112	31532112	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr1:31532112C>T	ENST00000257075.5	-	2	395	c.302G>A	c.(301-303)gGc>gAc	p.G101D	PUM1_ENST00000373747.3_Missense_Mutation_p.G101D|PUM1_ENST00000424085.2_Missense_Mutation_p.G101D|PUM1_ENST00000373741.4_Missense_Mutation_p.G137D|PUM1_ENST00000373742.2_Missense_Mutation_p.G137D|PUM1_ENST00000440538.2_Missense_Mutation_p.G101D|PUM1_ENST00000423018.2_Missense_Mutation_p.G101D|PUM1_ENST00000426105.2_Missense_Mutation_p.G101D	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	101					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATTATAGCCGCCTCCTCCACT	0.468																																																0			1											109	101	103					1																	31532112		2203	4300	6503	31304699	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.302G>A	1.37:g.31532112C>T	ENSP00000257075:p.Gly101Asp		31304699	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536540	0.65085	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T;T	0.44482	1.37;1.93;2.2;2.23;2.2;2.2;1.36;0.92	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000005	T	0.55497	0.1924	L	0.34521	1.04	0.32330	N	0.561257	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.992;0.992;0.992;0.996;0.992;0.992	T	0.58375	-0.7647	10	0.40728	T	0.16	-8.1482	19.0661	0.93110	0.0:1.0:0.0:0.0	.	137;101;137;101;101;101	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0	.;.;.;.;PUM1_HUMAN;.	D	101;101;101;101;101;101;137;101;137;101	ENSP00000400141:G101D;ENSP00000257075:G101D;ENSP00000362852:G101D;ENSP00000391723:G101D;ENSP00000401777:G101D;ENSP00000362846:G137D;ENSP00000399440:G101D;ENSP00000362847:G137D	ENSP00000257075:G101D	G	-	2	0	PUM1	31304699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.287000	0.65645	2.746000	0.94184	0.655000	0.94253	GGC		0.468	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			T	31532112	C	T	31532112	3	4	383	1	0	0	0	0	1	0	0	0	12828	739	26	2	3348	2	PUM1	1	31532112	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	5452138	31532112	217718509	3	20797											
KDM4A	9682	genome.wustl.edu	37	1	44134890	44134890	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr1:44134890C>T	ENST00000372396.3	+	10	1417	c.1283C>T	c.(1282-1284)aCg>aTg	p.T428M		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	428					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TATGAGATGACGGAGTGCCCG	0.547																																																0			1											143	138	140					1																	44134890		2203	4300	6503	43907477	SO:0001583	missense	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1283C>T	1.37:g.44134890C>T	ENSP00000361473:p.Thr428Met		43907477	Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	CCDS491.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749974	0.49257	.	.	ENSG00000066135	ENST00000372396	T	0.15834	2.39	5.23	3.07	0.35406	.	1.011120	0.07892	N	0.971293	T	0.11367	0.0277	L	0.43152	1.355	0.27068	N	0.963381	P;D	0.53151	0.658;0.958	B;B	0.32289	0.116;0.143	T	0.23511	-1.0186	10	0.48119	T	0.1	-2.9444	5.3714	0.16142	0.2463:0.6522:0.0:0.1015	.	428;428	B4DT38;O75164	.;KDM4A_HUMAN	M	428	ENSP00000361473:T428M	ENSP00000361473:T428M	T	+	2	0	KDM4A	43907477	0.168000	0.22989	1.000000	0.80357	0.993000	0.82548	1.050000	0.30404	1.340000	0.45581	0.561000	0.74099	ACG		0.547	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		T	44134890	C	T	44134890	3	4	383	1	0	0	0	0	1	0	0	0	8128	536	19	1	1317	1	KDM4A	1	44134890	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	12602778	44134890	205115731	4	20798											
POMGNT1	55624	genome.wustl.edu	37	1	46660041	46660041	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr1:46660041T>G	ENST00000371984.3	-	9	941	c.784A>C	c.(784-786)Aac>Cac	p.N262H	POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.N262H|POMGNT1_ENST00000535522.1_Missense_Mutation_p.N240H|POMGNT1_ENST00000371986.3_Missense_Mutation_p.N262H	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	262					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CGGCGACGGTTCAGCTCTGTG	0.602																																																0			1											76	75	75					1																	46660041		2203	4300	6503	46432628	SO:0001583	missense	55624				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.784A>C	1.37:g.46660041T>G	ENSP00000361052:p.Asn262His		46432628	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517506	0.85495	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	M	0.72118	2.19	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.70016	0.967;0.928;0.921	D	0.91028	0.4862	10	0.66056	D	0.02	-32.9003	15.8259	0.78706	0.0:0.0:0.0:1.0	.	240;262;262	F5H827;Q5VST3;Q8WZA1	.;.;PMGT1_HUMAN	H	262;262;240;262	ENSP00000361052:N262H;ENSP00000361060:N262H;ENSP00000443767:N240H;ENSP00000361054:N262H	ENSP00000361052:N262H	N	-	1	0	POMGNT1	46432628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.141000	0.66446	0.454000	0.30748	AAC		0.602	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		G	46660041	T	G	46660041	3	3	383	1	0	0	0	0	1	0	0	0	12243	1783	62	5	1254	5	POMGNT1	1	46660041	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09	2525151	46660041	202590580	5	20799											
XPR1	9213	genome.wustl.edu	37	1	180793950	180793950	+	Silent	SNP	C	C	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr1:180793950C>G	ENST00000367590.4	+	8	1023	c.825C>G	c.(823-825)ggC>ggG	p.G275G	XPR1_ENST00000367589.3_Silent_p.G275G	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	275					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.G275G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATCGGGGTGGCTTTCTTCTGA	0.363																																																1	Substitution - coding silent(1)	breast(1)	1											144	143	143					1																	180793950		2203	4300	6503	179060573	SO:0001819	synonymous_variant	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.825C>G	1.37:g.180793950C>G			179060573	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	CCDS1340.1																																																																																				0.363	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		G	180793950	C	G	180793950	2	3	383	1	0	0	0	0	0	0	0	1	17451	784	28	3		3	XPR1	1	180793950	Silent	SNP	C	TCGA-36-2530-01A-01D-1526-09	134133909	180793950	68456671	6	20800											
PLEKHA6	22874	genome.wustl.edu	37	1	204199581	204199581	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr1:204199581C>A	ENST00000272203.3	-	18	2859	c.2543G>T	c.(2542-2544)aGc>aTc	p.S848I	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S868I	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	848										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGGGGCCGGGCTGGCCGGGAG	0.657																																																0			1											12	14	13					1																	204199581		2192	4272	6464	202466204	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2543G>T	1.37:g.204199581C>A	ENSP00000272203:p.Ser848Ile		202466204	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549939	0.65311	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.12774	2.65;3.12	5.24	5.24	0.73138	.	0.345626	0.28021	N	0.016919	T	0.13543	0.0328	L	0.47716	1.5	0.35293	D	0.782367	P	0.49447	0.924	B	0.41860	0.368	T	0.12528	-1.0544	10	0.54805	T	0.06	-26.1779	9.2775	0.37709	0.0:0.8383:0.0:0.1617	.	848	Q9Y2H5	PKHA6_HUMAN	I	848;868	ENSP00000272203:S848I;ENSP00000402046:S868I	ENSP00000272203:S848I	S	-	2	0	PLEKHA6	202466204	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.727000	0.38095	2.435000	0.82474	0.462000	0.41574	AGC		0.657	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		A	204199581	C	A	204199581	3	1	383	1	0	0	0	0	1	0	0	0	12060	797	28	3	623	3	PLEKHA6	1	204199581	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	23405631	204199581	45051040	7	20801											
YOD1	55432	genome.wustl.edu	37	1	207224211	207224211	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr1:207224211G>C	ENST00000315927.4	-	1	211	c.165C>G	c.(163-165)gaC>gaG	p.D55E	PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000367079.2_5'Flank|PFKFB2_ENST00000367080.3_5'Flank|YOD1_ENST00000391927.1_Intron|YOD1_ENST00000367084.1_Intron	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	55	UBX-like.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CATGGGTGCCGTCCTTGGCCT	0.701																																																0			1											13	16	15					1																	207224211		2194	4286	6480	205290834	SO:0001583	missense	55432				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.165C>G	1.37:g.207224211G>C	ENSP00000326813:p.Asp55Glu		205290834	B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	G	7.794	0.712113	0.15306	.	.	ENSG00000180667	ENST00000315927	.	.	.	5.69	-7.28	0.01456	.	0.286306	0.42053	N	0.000767	T	0.30135	0.0755	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07849	-1.0751	8	.	.	.	-19.7424	11.2458	0.48996	0.2266:0.1998:0.5737:0.0	.	55	Q5VVQ6	OTU1_HUMAN	E	55	.	.	D	-	3	2	YOD1	205290834	0.050000	0.20438	0.864000	0.33941	0.987000	0.75469	-0.634000	0.05477	-1.352000	0.02194	-1.074000	0.02243	GAC		0.701	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		C	207224211	G	C	207224211	3	2	383	1	0	0	0	0	1	0	0	0	17488	1136	40	3	889	3	YOD1	1	207224211	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09	3024630	207224211	42026410	8	20802											
ERO1LB	56605	genome.wustl.edu	37	1	236389793	236389793	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr1:236389793C>T	ENST00000354619.5	-	12	1029	c.828G>A	c.(826-828)tgG>tgA	p.W276*		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	276					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TATTAGGTCCCCAACTGGGCT	0.363																																																0			1											60	61	61					1																	236389793		2202	4298	6500	234456416	SO:0001587	stop_gained	56605			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.828G>A	1.37:g.236389793C>T	ENSP00000346635:p.Trp276*		234456416	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Nonsense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	38	6.791039	0.97841	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.948	19.5134	0.95153	0.0:1.0:0.0:0.0	.	.	.	.	X	276;1	.	ENSP00000264181:W1X	W	-	3	0	ERO1LB	234456416	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.464000	0.80887	2.609000	0.88269	0.579000	0.79373	TGG		0.363	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		T	236389793	C	T	236389793	4	4	383	1	0	0	0	0	0	1	0	0	5240	624	22	2	595	2	ERO1LB	1	236389793	Nonsense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	29165582	236389793	12860828	9	20803											
TPO	7173	genome.wustl.edu	37	2	1507728	1507728	+	Missense_Mutation	SNP	G	G	A	rs121908085		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr2:1507728G>A	ENST00000345913.4	+	14	2486	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	TPO_ENST00000382198.1_Missense_Mutation_p.E626K|TPO_ENST00000329066.4_Missense_Mutation_p.E799K|TPO_ENST00000349624.3_Missense_Mutation_p.E626K|TPO_ENST00000346956.3_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.E742K|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.E799K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	799	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		E -> K (in TDH2A; dbSNP:rs121908085). {ECO:0000269|PubMed:10084596, ECO:0000269|PubMed:11061528, ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGATGTGAACGAGTGTGCAGA	0.642													G|||	1	0.000199681	0	0	5008	,	,		14840	0.001		0	False		,,,				2504	0															0			2	GRCh37	CM951242	TPO	M	rs121908085						64	61	62					2																	1507728		2203	4300	6503	1486735	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2395G>A	2.37:g.1507728G>A	ENSP00000318820:p.Glu799Lys		1486735	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.67	3.674129	0.67928	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000425083	D;D;D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18	4.53	4.53	0.55603	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	1.180200	0.06181	N	0.679371	D	0.99468	0.9811	M	0.93854	3.465	0.80722	A	1	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.79784	0.715;0.989;0.993	D	0.98335	1.0535	9	0.72032	D	0.01	-31.2993	16.8599	0.86014	0.0:0.0:1.0:0.0	.	626;742;799	P07202-5;P07202-2;P07202	.;.;PERT_HUMAN	K	799;799;626;799;742;626;20	ENSP00000337263:E799K;ENSP00000318820:E799K;ENSP00000332044:E626K;ENSP00000329869:E799K;ENSP00000371636:E742K;ENSP00000371633:E626K;ENSP00000389659:E20K	ENSP00000329869:E799K	E	+	1	0	TPO	1486735	1.000000	0.71417	0.540000	0.28089	0.310000	0.27922	6.179000	0.71974	2.083000	0.62718	0.453000	0.30009	GAG		0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1507728	G	A	1507728	3	1	383	1	0	0	0	0	1	0	0	0	16410	1059	37	1	2445	1	TPO	2	1507728	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		1507728	241691645	10	20804											
KCNF1	3754	genome.wustl.edu	37	2	11053429	11053429	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr2:11053429C>T	ENST00000295082.1	+	1	1367	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	293					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCAGGCGCTGCGGATCATGCG	0.657																																																0			2											47	44	45					2																	11053429		2203	4300	6503	10970880	SO:0001583	missense	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.877C>T	2.37:g.11053429C>T	ENSP00000295082:p.Arg293Trp		10970880	O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	c	18.41	3.618299	0.66787	.	.	ENSG00000162975	ENST00000295082	D	0.98633	-5.04	4.84	3.93	0.45458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.96970	3.915	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.98674	1.0689	10	0.87932	D	0	.	12.2699	0.54700	0.3189:0.681:0.0:0.0	.	293	Q9H3M0	KCNF1_HUMAN	W	293	ENSP00000295082:R293W	ENSP00000295082:R293W	R	+	1	2	KCNF1	10970880	1.000000	0.71417	0.868000	0.34077	0.990000	0.78478	3.894000	0.56250	1.103000	0.41568	0.556000	0.70494	CGG		0.657	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		T	11053429	C	T	11053429	3	4	383	1	0	0	0	0	1	0	0	0	8026	759	27	1	879	1	KCNF1	2	11053429	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	9545701	11053429	232145944	11	20805											
GDF7	151449	genome.wustl.edu	37	2	20871081	20871081	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr2:20871081C>A	ENST00000272224.3	+	2	1825	c.1249C>A	c.(1249-1251)Cca>Aca	p.P417T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	417					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTGTGTGCCAGCGCGCCT	0.622																																																0			2											58	52	54					2																	20871081		2203	4300	6503	20734562	SO:0001583	missense	151449			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1249C>A	2.37:g.20871081C>A	ENSP00000272224:p.Pro417Thr		20734562		Missense_Mutation	SNP	ENST00000272224.3	37	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365395	0.82463	.	.	ENSG00000143869	ENST00000272224	D	0.83837	-1.77	4.05	4.05	0.47172	Transforming growth factor-beta, C-terminal (3);	0.000000	0.64402	U	0.000015	D	0.95598	0.8569	H	0.99789	4.78	0.46203	D	0.998927	D	0.89917	1.0	D	0.97110	1.0	D	0.98175	1.0454	10	0.87932	D	0	.	16.7259	0.85421	0.0:1.0:0.0:0.0	.	417	Q7Z4P5	GDF7_HUMAN	T	417	ENSP00000272224:P417T	ENSP00000272224:P417T	P	+	1	0	GDF7	20734562	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.875000	0.69660	2.187000	0.69744	0.561000	0.74099	CCA		0.622	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		A	20871081	C	A	20871081	3	1	383	1	0	0	0	0	1	0	0	0	6318	739	26	3	1255	3	GDF7	2	20871081	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	9817652	20871081	222328292	12	20806											
DNMT3A	1788	genome.wustl.edu	37	2	25505532	25505532	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr2:25505532G>A	ENST00000264709.3	-	4	563	c.226C>T	c.(226-228)Cca>Tca	p.P76S	DNMT3A_ENST00000406659.3_Missense_Mutation_p.P76S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P76S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	76					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATGGATGGGGACTTGGAG	0.587			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											49	58	55					2																	25505532		2202	4298	6500	25359036	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.226C>T	2.37:g.25505532G>A	ENSP00000264709:p.Pro76Ser		25359036	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149874	0.21371	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.92595	-3.07;-3.07	4.91	3.97	0.46021	.	0.530516	0.15845	N	0.241813	T	0.82144	0.4973	N	0.08118	0	0.30833	N	0.736456	B;B	0.26809	0.16;0.001	B;B	0.28305	0.088;0.001	T	0.78224	-0.2287	10	0.32370	T	0.25	-0.5263	9.6977	0.40167	0.0:0.0:0.7933:0.2067	.	76;76	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	S	76	ENSP00000324375:P76S;ENSP00000264709:P76S	ENSP00000264709:P76S	P	-	1	0	DNMT3A	25359036	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	4.107000	0.57811	2.280000	0.76307	0.563000	0.77884	CCA		0.587	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		A	25505532	G	A	25505532	3	1	383	1	0	0	0	0	1	0	0	0	4676	1232	43	2	2725	2	DNMT3A	2	25505532	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09	4634451	25505532	217693841	13	20807											
PLB1	151056	genome.wustl.edu	37	2	28821575	28821575	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr2:28821575G>C	ENST00000327757.5	+	35	2466	c.2422G>C	c.(2422-2424)Gcc>Ccc	p.A808P	PLB1_ENST00000422425.2_Missense_Mutation_p.A797P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	808	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CACGGGTGATGCCAATGACAC	0.537																																																0			2											159	147	151					2																	28821575		2203	4300	6503	28675079	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2422G>C	2.37:g.28821575G>C	ENSP00000330442:p.Ala808Pro		28675079	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.158|4.158	0.027796|0.027796	0.08054|0.08054	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425|ENST00000404858	T;T|.	0.14893|.	2.47;2.47|.	5.84|5.84	4.95|4.95	0.65309|0.65309	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.397425|.	0.24568|.	N|.	0.037416|.	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	0.999993|0.999993	B;B|.	0.33807|.	0.135;0.426|.	B;B|.	0.31101|.	0.076;0.124|.	T|T	0.27706|0.27706	-1.0066|-1.0066	10|5	0.29301|.	T|.	0.29|.	-15.0018|-15.0018	5.2928|5.2928	0.15737|0.15737	0.0764:0.1449:0.6284:0.1503|0.0764:0.1449:0.6284:0.1503	.|.	797;808|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	P|I	808;797|795	ENSP00000330442:A808P;ENSP00000416440:A797P|.	ENSP00000330442:A808P|.	A|M	+|+	1|3	0|0	PLB1|PLB1	28675079|28675079	0.029000|0.029000	0.19370|0.19370	0.023000|0.023000	0.16930|0.16930	0.016000|0.016000	0.09150|0.09150	1.734000|1.734000	0.38166|0.38166	1.452000|1.452000	0.47756|0.47756	0.561000|0.561000	0.74099|0.74099	GCC|ATG		0.537	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			C	28821575	G	C	28821575	3	2	383	1	0	0	0	0	1	0	0	0	12024	1319	46	3	2593	3	PLB1	2	28821575	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09	3316043	28821575	214377798	14	20808											
TTN	7273	genome.wustl.edu	37	2	179641962	179641962	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr2:179641962T>G	ENST00000591111.1	-	27	4952	c.4728A>C	c.(4726-4728)aaA>aaC	p.K1576N	TTN_ENST00000359218.5_Missense_Mutation_p.K1530N|TTN_ENST00000460472.2_Missense_Mutation_p.K1530N|TTN_ENST00000589042.1_Missense_Mutation_p.K1576N|TTN_ENST00000342175.6_Missense_Mutation_p.K1530N|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.K1576N|TTN_ENST00000342992.6_Missense_Mutation_p.K1576N|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12433	Ig-like 7.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCTCTGACTTTCATTTCAA	0.383																																																0			2											156	150	152					2																	179641962		2203	4300	6503	179350207	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4728A>C	2.37:g.179641962T>G	ENSP00000465570:p.Lys1576Asn		179350207	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.58	1.682412	0.29872	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.9	4.74	0.60224	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56746	0.2006	L	0.39566	1.225	0.27991	N	0.935643	B;B;B;B;B	0.14438	0.002;0.002;0.002;0.002;0.01	B;B;B;B;B	0.17433	0.007;0.007;0.007;0.007;0.018	T	0.54403	-0.8299	9	0.87932	D	0	.	7.38	0.26849	0.1809:0.0671:0.0:0.752	.	1530;1530;1530;1576;1576	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	1576;1530;1530;1530;1530;1576	ENSP00000343764:K1576N;ENSP00000434586:K1530N;ENSP00000340554:K1530N;ENSP00000352154:K1530N;ENSP00000354117:K1576N	ENSP00000340554:K1530N	K	-	3	2	TTN	179350207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.448000	0.35112	1.057000	0.40506	0.528000	0.53228	AAA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179641962	T	G	179641962	3	3	383	1	0	0	0	0	1	0	0	0	16735	1606	56	5	106604	5	TTN	2	179641962	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09	150820387	179641962	63557411	15	20809											
IRS1	3667	genome.wustl.edu	37	2	227662615	227662615	+	Silent	SNP	G	G	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr2:227662615G>A	ENST00000305123.5	-	1	1860	c.840C>T	c.(838-840)atC>atT	p.I280I	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	280	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGGACGCTGATGGGGTTAG	0.652											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			2											72	78	76					2																	227662615		2203	4300	6503	227370859	SO:0001819	synonymous_variant	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.840C>T	2.37:g.227662615G>A		2321	227370859		Silent	SNP	ENST00000305123.5	37	CCDS2463.1																																																																																				0.652	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		A	227662615	G	A	227662615	2	1	383	1	0	0	0	0	0	0	0	1	7840	1280	45	2		2	IRS1	2	227662615	Silent	SNP	G	TCGA-36-2530-01A-01D-1526-09	48020653	227662615	15536758	16	20810											
SPHKAP	80309	genome.wustl.edu	37	2	228884300	228884300	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr2:228884300C>A	ENST00000392056.3	-	7	1316	c.1270G>T	c.(1270-1272)Gta>Tta	p.V424L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V424L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	424						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAACTTCCTACAGAAACACTG	0.438																																																0			2											117	112	114					2																	228884300		2203	4300	6503	228592544	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1270G>T	2.37:g.228884300C>A	ENSP00000375909:p.Val424Leu		228592544	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140876	0.21205	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11712	2.75;2.75	5.76	1.36	0.22044	.	0.859197	0.10483	N	0.669348	T	0.13329	0.0323	M	0.67953	2.075	0.09310	N	1	B;B	0.18310	0.003;0.027	B;B	0.15484	0.002;0.013	T	0.21621	-1.0240	10	0.48119	T	0.1	-0.4759	8.9752	0.35930	0.0:0.6766:0.1119:0.2115	.	424;424	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	L	424	ENSP00000375909:V424L;ENSP00000339886:V424L	ENSP00000339886:V424L	V	-	1	0	SPHKAP	228592544	0.000000	0.05858	0.346000	0.25655	0.786000	0.44442	0.224000	0.17738	0.341000	0.23771	0.655000	0.94253	GTA		0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228884300	C	A	228884300	3	1	383	1	0	0	0	0	1	0	0	0	15050	478	17	3	3856	3	SPHKAP	2	228884300	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	1221685	228884300	14315073	17	20811											
PROS1	5627	genome.wustl.edu	37	3	93603626	93603626	+	Missense_Mutation	SNP	C	C	G	rs199469499		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr3:93603626C>G	ENST00000394236.3	-	12	1754	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	PROS1_ENST00000407433.1_Missense_Mutation_p.E349Q	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	480					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GAGCCCTTCTCCACAGTAACC	0.343																																																0			3											121	114	116					3																	93603626		2203	4300	6503	95086316	SO:0001583	missense	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1438G>C	3.37:g.93603626C>G	ENSP00000377783:p.Glu480Gln		95086316	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898831	0.72754	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.80393	-1.37;-1.37	3.78	3.78	0.43462	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.87051	0.6081	M	0.84219	2.685	0.58432	D	0.999991	D	0.64830	0.994	P	0.56343	0.796	D	0.86865	0.2032	10	0.30078	T	0.28	.	15.42	0.75003	0.0:1.0:0.0:0.0	.	480	P07225	PROS_HUMAN	Q	480;349	ENSP00000377783:E480Q;ENSP00000385794:E349Q	ENSP00000377783:E480Q	E	-	1	0	PROS1	95086316	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.554000	0.67294	1.950000	0.56595	0.561000	0.74099	GAG		0.343	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		G	93603626	C	G	93603626	3	3	383	1	0	0	0	0	1	0	0	0	12561	864	30	3	608	3	PROS1	3	93603626	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09		93603626	104418804	18	20812											
CCDC80	151887	genome.wustl.edu	37	3	112358642	112358642	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr3:112358642T>A	ENST00000206423.3	-	2	1064	c.111A>T	c.(109-111)aaA>aaT	p.K37N	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.K37N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	37					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCAAAGGCACTTTCCGTCCTC	0.567																																																0			3											74	66	68					3																	112358642		2203	4300	6503	113841332	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.111A>T	3.37:g.112358642T>A	ENSP00000206423:p.Lys37Asn		113841332	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.025670	0.54683	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.51325	0.71;0.71	5.25	0.171	0.15026	.	0.573870	0.19205	N	0.120090	T	0.34048	0.0884	L	0.27053	0.805	0.09310	N	1	P;P;P	0.39665	0.59;0.682;0.455	B;B;B	0.41332	0.354;0.261;0.193	T	0.22312	-1.0220	10	0.72032	D	0.01	-7.3251	9.0171	0.36177	0.0:0.2978:0.0:0.7022	.	48;37;37	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	N	37	ENSP00000206423:K37N;ENSP00000411814:K37N	ENSP00000206423:K37N	K	-	3	2	CCDC80	113841332	0.100000	0.21855	0.003000	0.11579	0.751000	0.42716	0.717000	0.25851	-0.100000	0.12241	0.528000	0.53228	AAA		0.567	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		A	112358642	T	A	112358642	3	1	383	1	0	0	0	0	1	0	0	0	2854	1606	56	5	2769	5	CCDC80	3	112358642	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09	18755016	112358642	85663788	19	20813											
USP13	8975	genome.wustl.edu	37	3	179470151	179470151	+	Silent	SNP	C	C	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr3:179470151C>G	ENST00000263966.3	+	14	2259	c.1788C>G	c.(1786-1788)ccC>ccG	p.P596P	USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Silent_p.P531P	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	596	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			ACTGGGTTCCCAAAAAATTTG	0.408																																																0			3											194	180	185					3																	179470151		2203	4300	6503	180952845	SO:0001819	synonymous_variant	8975			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1788C>G	3.37:g.179470151C>G			180952845	A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	CCDS3235.1																																																																																				0.408	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			G	179470151	C	G	179470151	2	3	383	1	0	0	0	0	0	0	0	1	17044	581	21	3		3	USP13	3	179470151	Silent	SNP	C	TCGA-36-2530-01A-01D-1526-09	67111509	179470151	18552279	20	20814											
RGS12	6002	genome.wustl.edu	37	4	3416554	3416554	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr4:3416554G>T	ENST00000344733.5	+	6	3170	c.2266G>T	c.(2266-2268)Gca>Tca	p.A756S	RGS12_ENST00000306648.7_Missense_Mutation_p.A154S|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.A756S|RGS12_ENST00000338806.4_Missense_Mutation_p.A108S|RGS12_ENST00000538395.1_Missense_Mutation_p.A98S|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.A756S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	756	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCATGTTCCTGCACATGACAA	0.453																																																0			4											99	106	104					4																	3416554		2203	4300	6503	3386352	SO:0001583	missense	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2266G>T	4.37:g.3416554G>T	ENSP00000339381:p.Ala756Ser		3386352	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014375	0.75161	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.34275	1.67;1.67;1.67;1.37;1.37;1.38	4.51	4.51	0.55191	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.059309	0.64402	D	0.000003	T	0.35422	0.0931	N	0.05534	-0.03	0.30586	N	0.761998	B;B;P;B;B;B;B	0.36768	0.124;0.014;0.569;0.201;0.124;0.287;0.167	P;B;P;P;P;P;P	0.56788	0.617;0.181;0.806;0.586;0.617;0.794;0.705	T	0.38156	-0.9674	10	0.44086	T	0.13	-15.1092	10.2847	0.43560	0.0917:0.0:0.9083:0.0	.	98;98;98;108;154;756;756	B7Z764;B7Z8B8;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;RGS12_HUMAN;.	S	756;756;756;154;108;98	ENSP00000339381:A756S;ENSP00000338509:A756S;ENSP00000372238:A756S;ENSP00000304459:A154S;ENSP00000342133:A108S;ENSP00000438888:A98S	ENSP00000304459:A154S	A	+	1	0	RGS12	3386352	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.239000	0.65371	2.228000	0.72767	0.563000	0.77884	GCA		0.453	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		T	3416554	G	T	3416554	3	4	383	1	0	0	0	0	1	0	0	0	13298	1319	46	3	2342	3	RGS12	4	3416554	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		3416554	187737722	21	20815											
ENAM	10117	genome.wustl.edu	37	4	71508977	71508977	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr4:71508977T>A	ENST00000396073.3	+	9	2115	c.1834T>A	c.(1834-1836)Tca>Aca	p.S612T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	612					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGGGAAAACTCACCATACCT	0.448																																																0			4											149	155	153					4																	71508977		2203	4300	6503	71727841	SO:0001583	missense	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1834T>A	4.37:g.71508977T>A	ENSP00000379383:p.Ser612Thr		71727841	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	T	9.540	1.113239	0.20795	.	.	ENSG00000132464	ENST00000396073	T	0.34472	1.36	5.31	0.128	0.14733	.	0.923924	0.09077	N	0.851833	T	0.47395	0.1443	M	0.83603	2.65	0.09310	N	1	P	0.48911	0.917	P	0.52793	0.709	T	0.35425	-0.9789	10	0.27785	T	0.31	-1.6695	4.014	0.09636	0.0:0.3073:0.1834:0.5093	.	612	Q9NRM1	ENAM_HUMAN	T	612	ENSP00000379383:S612T	ENSP00000379383:S612T	S	+	1	0	ENAM	71727841	0.000000	0.05858	0.003000	0.11579	0.199000	0.23934	-0.547000	0.06055	-0.090000	0.12462	0.533000	0.62120	TCA		0.448	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		A	71508977	T	A	71508977	3	1	383	1	0	0	0	0	1	0	0	0	5112	1551	54	5	1864	5	ENAM	4	71508977	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09	68092423	71508977	119645299	22	20816											
FAM46A	55603	genome.wustl.edu	37	6	82460166	82460166	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr6:82460166A>C	ENST00000320172.6	-	3	889	c.575T>G	c.(574-576)gTt>gGt	p.V192G	FAM46A_ENST00000369756.3_Missense_Mutation_p.V273G|FAM46A_ENST00000369754.3_Missense_Mutation_p.V211G	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	192					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GCACACTTTAACCATTTTCTG	0.363																																																0			6											33	35	34					6																	82460166		2198	4299	6497	82516885	SO:0001583	missense	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.575T>G	6.37:g.82460166A>C	ENSP00000318298:p.Val192Gly		82516885	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422199	0.62622	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.34859	1.34;1.34;1.34	5.64	5.64	0.86602	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	T	0.71738	-0.4502	10	0.87932	D	0	-18.6386	15.8494	0.78916	1.0:0.0:0.0:0.0	.	192;211	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	G	211;192;273	ENSP00000358769:V211G;ENSP00000318298:V192G;ENSP00000358771:V273G	ENSP00000318298:V192G	V	-	2	0	FAM46A	82516885	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.339000	0.96797	2.148000	0.66965	0.533000	0.62120	GTT		0.363	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			C	82460166	A	C	82460166	3	2	383	1	0	0	0	0	1	0	0	0	5565	43	2	5	757	5	FAM46A	6	82460166	Missense_Mutation	SNP	A	TCGA-36-2530-01A-01D-1526-09		82460166	88654901	23	20817											
ARHGEF5	7984	genome.wustl.edu	37	7	144060494	144060494	+	Silent	SNP	A	A	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr7:144060494A>G	ENST00000056217.5	+	2	906	c.732A>G	c.(730-732)ggA>ggG	p.G244G	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	244					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGGGGGAAGGAACTCTGAGGG	0.527																																																0			7											19	21	20					7																	144060494		2053	4053	6106	143691427	SO:0001819	synonymous_variant	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.732A>G	7.37:g.144060494A>G			143691427	A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	CCDS34771.1																																																																																				0.527	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		G	144060494	A	G	144060494	2	3	383	1	0	0	0	0	0	0	0	1	909	233	9	4		4	ARHGEF5	7	144060494	Silent	SNP	A	TCGA-36-2530-01A-01D-1526-09		144060494	15078169	24	20818											
TNFRSF10A	8797	genome.wustl.edu	37	8	23059380	23059380	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr8:23059380G>C	ENST00000221132.3	-	4	634	c.570C>G	c.(568-570)tgC>tgG	p.C190W		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	190					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TTCCTGGTTTGCACTGACATG	0.522																																																0			8											179	129	146					8																	23059380		2203	4300	6503	23115325	SO:0001583	missense	8797			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.570C>G	8.37:g.23059380G>C	ENSP00000221132:p.Cys190Trp		23115325	A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197975	0.38806	.	.	ENSG00000104689	ENST00000221132	D	0.99936	-8.3	4.2	1.34	0.21922	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.000000	0.85682	U	0.000000	D	0.99910	0.9957	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97595	1.0119	10	0.87932	D	0	.	6.2614	0.20901	0.3397:0.0:0.6602:0.0	.	190	O00220	TR10A_HUMAN	W	190	ENSP00000221132:C190W	ENSP00000221132:C190W	C	-	3	2	TNFRSF10A	23115325	0.998000	0.40836	0.052000	0.19188	0.017000	0.09413	1.621000	0.36986	0.020000	0.15106	0.655000	0.94253	TGC		0.522	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		C	23059380	G	C	23059380	3	2	383	1	0	0	0	0	1	0	0	0	16280	1311	46	3	864	3	TNFRSF10A	8	23059380	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		23059380	123304642	25	20819											
IKBKB	3551	genome.wustl.edu	37	8	42171902	42171902	+	Missense_Mutation	SNP	C	C	T	rs374916045		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr8:42171902C>T	ENST00000520810.1	+	9	941	c.755C>T	c.(754-756)aCg>aTg	p.T252M	IKBKB_ENST00000379708.3_Missense_Mutation_p.T29M|IKBKB_ENST00000520835.1_Missense_Mutation_p.T250M|IKBKB_ENST00000416505.2_Missense_Mutation_p.T193M|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TTGAATGGAACGGTGAAGTTT	0.408																																																0			8						C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	288	252	264		749,578,755	2.9	0	8		264	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IKBKB	NM_001190720.2,NM_001242778.1,NM_001556.2	81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	250/755,193/698,252/757	42171902	1,13005	2203	4300	6503	42291059	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.755C>T	8.37:g.42171902C>T	ENSP00000430684:p.Thr252Met		42291059	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029345	0.54790	0.0	1.16E-4	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.66280	-0.2;-0.2;-0.2;2.93	5.95	2.87	0.33458	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.667620	0.16214	N	0.224323	T	0.58595	0.2133	L	0.38838	1.175	0.09310	N	1	P;P;P;D;P;D	0.54601	0.702;0.749;0.834;0.967;0.507;0.967	B;B;B;P;B;P	0.53809	0.367;0.397;0.169;0.735;0.404;0.735	T	0.47289	-0.9129	10	0.51188	T	0.08	.	6.4459	0.21875	0.1862:0.6394:0.1001:0.0743	.	193;250;29;203;252;252	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	M	252;193;250;29	ENSP00000430684:T252M;ENSP00000404920:T193M;ENSP00000430868:T250M;ENSP00000369030:T29M	ENSP00000369030:T29M	T	+	2	0	IKBKB	42291059	0.023000	0.18921	0.004000	0.12327	0.619000	0.37552	2.281000	0.43452	1.521000	0.48983	0.655000	0.94253	ACG		0.408	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			T	42171902	C	T	42171902	3	4	383	1	0	0	0	0	1	0	0	0	7611	536	19	1	785	1	IKBKB	8	42171902	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	19112522	42171902	104192120	26	20820											
TRPA1	8989	genome.wustl.edu	37	8	72964842	72964842	+	Missense_Mutation	SNP	C	C	G	rs148585412		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr8:72964842C>G	ENST00000262209.4	-	14	2010	c.1803G>C	c.(1801-1803)agG>agC	p.R601S	RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	601					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACCTTTTGCTCCTGATGATCG	0.423																																																0			8											131	115	121					8																	72964842		2203	4300	6503	73127396	SO:0001583	missense	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1803G>C	8.37:g.72964842C>G	ENSP00000262209:p.Arg601Ser		73127396	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489301	0.26686	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.61980	0.06;0.06	4.98	1.0	0.19881	Ankyrin repeat-containing domain (1);	0.319914	0.39615	N	0.001308	T	0.48277	0.1491	L	0.56769	1.78	0.30827	N	0.737157	B	0.32302	0.363	B	0.27380	0.079	T	0.48969	-0.8987	10	0.07990	T	0.79	-9.1522	10.2318	0.43260	0.0:0.6417:0.0:0.3583	.	601	O75762	TRPA1_HUMAN	S	453;601	ENSP00000428151:R453S;ENSP00000262209:R601S	ENSP00000262209:R601S	R	-	3	2	TRPA1	73127396	0.957000	0.32711	0.723000	0.30687	0.570000	0.35934	0.359000	0.20233	0.212000	0.20703	0.585000	0.79938	AGG		0.423	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		G	72964842	C	G	72964842	3	3	383	1	0	0	0	0	1	0	0	0	16577	854	30	3	1612	3	TRPA1	8	72964842	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	30792940	72964842	73399180	27	20821											
TJP2	9414	genome.wustl.edu	37	9	71840954	71840954	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr9:71840954C>T	ENST00000377245.4	+	7	1281	c.1073C>T	c.(1072-1074)aCt>aTt	p.T358I	TJP2_ENST00000535702.1_Missense_Mutation_p.T362I|TJP2_ENST00000453658.2_Missense_Mutation_p.T335I|TJP2_ENST00000265384.7_Missense_Mutation_p.T358I|TJP2_ENST00000348208.4_Missense_Mutation_p.T358I|TJP2_ENST00000539225.1_Missense_Mutation_p.T389I	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	358	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGGACTGTAACTGAGAACATG	0.343																																																0			9											63	66	65					9																	71840954		2203	4300	6503	71030774	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1073C>T	9.37:g.71840954C>T	ENSP00000366453:p.Thr358Ile		71030774	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411000	0.83340	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	6.04	5.14	0.70334	PDZ/DHR/GLGF (4);	0.092145	0.85682	D	0.000000	T	0.55081	0.1898	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.982;0.973;0.999;0.995	D;D;P;D;D	0.75484	0.929;0.945;0.626;0.986;0.947	T	0.58758	-0.7580	10	0.72032	D	0.01	.	17.5323	0.87818	0.0:0.8764:0.1236:0.0	.	389;362;358;358;358	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	I	335;358;358;358;362;389	ENSP00000392178:T335I;ENSP00000366453:T358I;ENSP00000345893:T358I;ENSP00000265384:T358I;ENSP00000442090:T362I;ENSP00000438262:T389I	ENSP00000265384:T358I	T	+	2	0	TJP2	71030774	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.966000	0.63715	1.560000	0.49568	0.563000	0.77884	ACT		0.343	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		T	71840954	C	T	71840954	3	4	383	1	0	0	0	0	1	0	0	0	15930	565	20	2	1256	2	TJP2	9	71840954	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09		71840954	69372477	28	20822											
DNAJC25	548645	genome.wustl.edu	37	9	114393962	114393962	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr9:114393962G>C	ENST00000313525.3	+	1	331	c.275G>C	c.(274-276)cGg>cCg	p.R92P	LRRC37A5P_ENST00000374304.1_RNA|DNAJC25-GNG10_ENST00000374294.3_Missense_Mutation_p.R92P|DNAJC25_ENST00000556107.1_Missense_Mutation_p.R92P	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	92	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GGCCCCGGGCGGACGCCGCAG	0.736																																																0			9											2	2	2					9																	114393962		1526	3230	4756	113433783	SO:0001583	missense	0				CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.275G>C	9.37:g.114393962G>C	ENSP00000320650:p.Arg92Pro		113433783	Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	CCDS43862.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039239	0.35989	.	.	ENSG00000059769;ENSG00000059769;ENSG00000244115	ENST00000313525;ENST00000556107;ENST00000374294	T	0.46819	0.86	3.6	0.586	0.17434	Heat shock protein DnaJ, N-terminal (5);	0.853808	0.10347	N	0.685637	T	0.29652	0.0740	N	0.14661	0.345	0.09310	N	1	B;B	0.28350	0.008;0.208	B;B	0.34418	0.014;0.182	T	0.33292	-0.9874	10	0.62326	D	0.03	.	4.1126	0.10065	0.277:0.0:0.5559:0.1672	.	92;92	Q9H1X3-3;Q9H1X3	.;DJC25_HUMAN	P	92	ENSP00000320650:R92P	ENSP00000320650:R92P	R	+	2	0	DNAJC25-GNG10;DNAJC25	113433783	0.020000	0.18652	0.151000	0.22473	0.968000	0.65278	0.609000	0.24238	0.272000	0.22027	0.462000	0.41574	CGG		0.736	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		C	114393962	G	C	114393962	3	2	383	1	0	0	0	0	1	0	0	0	4643	1116	39	3	277	3	DNAJC25	9	114393962	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09	42553008	114393962	26819469	29	20823											
ZFP37	7539	genome.wustl.edu	37	9	115805102	115805102	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr9:115805102T>A	ENST00000374227.3	-	4	1823	c.1796A>T	c.(1795-1797)aAa>aTa	p.K599I	ZFP37_ENST00000553380.1_Missense_Mutation_p.K614I|ZFP37_ENST00000555206.1_Missense_Mutation_p.K600I	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCATAGGGTTTTTCTCCAGT	0.363																																																0			9											181	163	169					9																	115805102		2203	4300	6503	114844923	SO:0001583	missense	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1796A>T	9.37:g.115805102T>A	ENSP00000363344:p.Lys599Ile		114844923	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306476	0.60305	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.27720	1.65;1.65;1.65	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000413	T	0.59555	0.2202	M	0.88842	2.985	0.34703	D	0.726902	D;D;D	0.76494	0.979;0.979;0.999	D;D;D	0.87578	0.984;0.984;0.998	T	0.75246	-0.3385	10	0.72032	D	0.01	-17.3853	11.9811	0.53121	0.0:0.0:0.0:1.0	.	600;614;599	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	I	599;600;614	ENSP00000363344:K599I;ENSP00000451310:K600I;ENSP00000452552:K614I	ENSP00000363344:K599I	K	-	2	0	ZFP37	114844923	0.292000	0.24362	1.000000	0.80357	0.989000	0.77384	0.608000	0.24223	2.142000	0.66516	0.533000	0.62120	AAA		0.363	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		A	115805102	T	A	115805102	3	1	383	1	0	0	0	0	1	0	0	0	17648	1841	64	5	100	5	ZFP37	9	115805102	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09	1411140	115805102	25408329	30	20824											
ORM2	5005	genome.wustl.edu	37	9	117092749	117092749	+	Silent	SNP	T	T	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr9:117092749T>C	ENST00000431067.2	+	2	186	c.150T>C	c.(148-150)ttT>ttC	p.F50F	ORM2_ENST00000412657.1_Missense_Mutation_p.S189P	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	50					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	CATCGGCCTTTCGAAACGAGG	0.502																																					NSCLC(65;867 1308 1814 2391 12508)											0			9											38	55	50					9																	117092749		2195	4296	6491	116132570	SO:0001819	synonymous_variant	5005				CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"Lipocalins"	8499	protein-coding gene	gene with protein product	"alpha-1-acid glycoprotein, type 2"	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.150T>C	9.37:g.117092749T>C			116132570	B2R5L2|Q16571|Q5T538|Q6IB74	Silent	SNP	ENST00000431067.2	37	CCDS6804.1	.	.	.	.	.	.	.	.	.	.	-	4.680	0.126469	0.08931	.	.	ENSG00000228278	ENST00000412657	T	0.38077	1.16	3.11	-6.22	0.02058	.	.	.	.	.	T	0.26702	0.0653	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37549	-0.9701	6	0.87932	D	0	-6.878	2.0303	0.03528	0.2585:0.4735:0.1294:0.1386	.	.	.	.	P	189	ENSP00000407099:S189P	ENSP00000407099:S189P	S	+	1	0	ORM2	116132570	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.943000	0.01539	-1.742000	0.01342	-0.726000	0.03593	TCG		0.502	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		C	117092749	T	C	117092749	2	2	383	1	0	0	0	0	0	0	0	1	11268	1780	62	4		4	ORM2	9	117092749	Silent	SNP	T	TCGA-36-2530-01A-01D-1526-09	1287647	117092749	24120682	31	20825											
LHX2	9355	genome.wustl.edu	37	9	126777578	126777578	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr9:126777578G>C	ENST00000373615.4	+	3	1240	c.501G>C	c.(499-501)ttG>ttC	p.L167F		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	167	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACTGCCGCTTGCACTTCGAGG	0.647																																																0			9											86	82	83					9																	126777578		2203	4300	6503	125817399	SO:0001583	missense	9355			U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"Homeoboxes / LIM class"	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.501G>C	9.37:g.126777578G>C	ENSP00000362717:p.Leu167Phe		125817399	O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	CCDS6853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.92|12.92	2.082980|2.082980	0.36758|0.36758	.|.	.|.	ENSG00000106689|ENSG00000106689	ENST00000446480|ENST00000373615	.|D	.|0.87412	.|-2.25	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Zinc finger, LIM-type (4);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.88396|0.88396	0.6425|0.6425	L|L	0.52905|0.52905	1.665|1.665	0.39368|0.39368	D|D	0.966036|0.966036	.|P;D	.|0.57899	.|0.801;0.981	.|P;P	.|0.52672	.|0.629;0.706	D|D	0.89610|0.89610	0.3841|0.3841	5|10	.|0.59425	.|D	.|0.04	.|.	12.8098|12.8098	0.57634|0.57634	0.0:0.2793:0.7207:0.0|0.0:0.2793:0.7207:0.0	.|.	.|167;167	.|B3KNJ5;P50458	.|.;LHX2_HUMAN	P|F	173|167	.|ENSP00000362717:L167F	.|ENSP00000362717:L167F	A|L	+|+	1|3	0|2	LHX2|LHX2	125817399|125817399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.299000|2.299000	0.43611|0.43611	2.388000|2.388000	0.81334|0.81334	0.462000|0.462000	0.41574|0.41574	GCA|TTG		0.647	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			C	126777578	G	C	126777578	3	2	383	1	0	0	0	0	1	0	0	0	8771	1310	46	3	511	3	LHX2	9	126777578	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09	9684829	126777578	14435853	32	20826											
NCS1	23413	genome.wustl.edu	37	9	132984935	132984935	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr9:132984935T>G	ENST00000372398.3	+	5	400	c.314T>G	c.(313-315)tTc>tGc	p.F105C	NCS1_ENST00000458469.1_Missense_Mutation_p.F87C	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	105	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)			large_intestine(1)|lung(4)|stomach(1)	6						ACAGGGGCCTTCAAGCTCTAC	0.557																																					Melanoma(30;182 1162 22581 33240)											0			9											125	100	109					9																	132984935		2203	4300	6503	132024756	SO:0001583	missense	23413			AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"EF-hand domain containing"	3953	protein-coding gene	gene with protein product		603315	"frequenin (Drosophila) homolog", "frequenin homolog (Drosophila)"	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.314T>G	9.37:g.132984935T>G	ENSP00000361475:p.Phe105Cys		132024756	E9PAY3|P36610|Q9UK26	Missense_Mutation	SNP	ENST00000372398.3	37	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701533	0.68501	.	.	ENSG00000107130	ENST00000372398;ENST00000458469	D;D	0.92397	-3.03;-3.03	4.77	4.77	0.60923	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98776	1.0730	10	0.87932	D	0	.	13.5008	0.61454	0.0:0.0:0.0:1.0	.	87;105	E9PAY3;P62166	.;NCS1_HUMAN	C	105;87	ENSP00000361475:F105C;ENSP00000404103:F87C	ENSP00000361475:F105C	F	+	2	0	NCS1	132024756	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	7.775000	0.85489	1.786000	0.52430	0.379000	0.24179	TTC		0.557	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		G	132984935	T	G	132984935	3	3	383	1	0	0	0	0	1	0	0	0	10240	1783	62	5	346	5	NCS1	9	132984935	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09	6207357	132984935	8228496	33	20827											
FAM78A	286336	genome.wustl.edu	37	9	134136439	134136439	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr9:134136439T>C	ENST00000372271.3	-	2	989	c.622A>G	c.(622-624)Acg>Gcg	p.T208A	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.T205A	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	208										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CAGTGCAGCGTCTGCAGGATG	0.652																																																0			9											100	91	94					9																	134136439		2203	4300	6503	133126260	SO:0001583	missense	286336			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.622A>G	9.37:g.134136439T>C	ENSP00000361345:p.Thr208Ala		133126260	Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493173	0.84962	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.94417	-3.42;-3.42;-3.42	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	M	0.74881	2.28	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.985	D	0.97234	0.9886	10	0.87932	D	0	-27.9987	13.7403	0.62845	0.0:0.0:0.0:1.0	.	208;205	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	A	205;208;177	ENSP00000361343:T205A;ENSP00000361345:T208A;ENSP00000419959:T177A	ENSP00000361343:T205A	T	-	1	0	FAM78A	133126260	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.997000	0.88414	1.894000	0.54839	0.379000	0.24179	ACG		0.652	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		C	134136439	T	C	134136439	3	2	383	1	0	0	0	0	1	0	0	0	5626	1667	58	4	233	4	FAM78A	9	134136439	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09	1151504	134136439	7076992	34	20828											
DDX31	64794	genome.wustl.edu	37	9	135545542	135545542	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr9:135545542C>T	ENST00000372159.3	-	1	246	c.95G>A	c.(94-96)aGa>aAa	p.R32K	GTF3C4_ENST00000483873.2_5'UTR|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.R32K|DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000372153.1_Missense_Mutation_p.R32K|GTF3C4_ENST00000372146.4_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	32						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CAGCCCCTCTCTGCGTCCCTC	0.677																																																0			9											12	11	11					9																	135545542		2170	4238	6408	134535363	SO:0001583	missense	64794			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.95G>A	9.37:g.135545542C>T	ENSP00000361232:p.Arg32Lys		134535363	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448168	0.43429	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000310532	T;T;T	0.05580	4.27;3.82;3.42	2.62	-2.2	0.06994	.	.	.	.	.	T	0.03915	0.0110	N	0.19112	0.55	0.20764	N	0.999852	B;B;B	0.29552	0.01;0.248;0.003	B;B;B	0.26202	0.01;0.067;0.005	T	0.39663	-0.9603	9	0.51188	T	0.08	.	7.1116	0.25392	0.0:0.5775:0.0:0.4225	.	32;32;32	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	K	32	ENSP00000361232:R32K;ENSP00000361226:R32K;ENSP00000310539:R32K	ENSP00000310539:R32K	R	-	2	0	DDX31	134535363	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.070000	0.11523	-0.541000	0.06257	0.462000	0.41574	AGA		0.677	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		T	135545542	C	T	135545542	3	4	383	1	0	0	0	0	1	0	0	0	4356	913	32	2	2547	2	DDX31	9	135545542	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	1409103	135545542	5667889	35	20829											
ANKRD16	54522	genome.wustl.edu	37	10	5922318	5922318	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr10:5922318G>C	ENST00000380094.5	-	6	1414	c.871C>G	c.(871-873)Cag>Gag	p.Q291E	ANKRD16_ENST00000191063.8_Intron|ANKRD16_ENST00000380092.4_Missense_Mutation_p.Q291E	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	291										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AAGAGAGTCTGAATTGTACTT	0.333																																																0			10											82	81	81					10																	5922318		2203	4300	6503	5962324	SO:0001583	missense	54522			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"Ankyrin repeat domain containing"	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.871C>G	10.37:g.5922318G>C	ENSP00000369436:p.Gln291Glu		5962324	A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	G	1.600	-0.526689	0.04141	.	.	ENSG00000134461	ENST00000380094;ENST00000380092	T;T	0.62498	0.02;0.02	4.53	2.31	0.28768	Ankyrin repeat-containing domain (4);	0.123358	0.53938	D	0.000041	T	0.33411	0.0862	N	0.05441	-0.05	0.58432	D	0.999997	B	0.19445	0.036	B	0.20577	0.03	T	0.04333	-1.0959	10	0.16420	T	0.52	-10.2195	4.9232	0.13880	0.0921:0.1373:0.6099:0.1607	.	291	Q6P6B7	ANR16_HUMAN	E	291	ENSP00000369436:Q291E;ENSP00000369434:Q291E	ENSP00000369434:Q291E	Q	-	1	0	ANKRD16	5962324	0.999000	0.42202	0.833000	0.33012	0.661000	0.39034	2.870000	0.48451	0.878000	0.35920	0.478000	0.44815	CAG		0.333	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		C	5922318	G	C	5922318	3	2	383	1	0	0	0	0	1	0	0	0	645	1299	45	3	222	3	ANKRD16	10	5922318	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		5922318	129612429	36	20830											
ANK3	288	genome.wustl.edu	37	10	61967941	61967941	+	Silent	SNP	G	G	A	rs117138204	byFrequency	TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr10:61967941G>A	ENST00000280772.2	-	10	1238	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	ANK3_ENST00000373827.2_Silent_p.C343C|ANK3_ENST00000503366.1_Silent_p.C332C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	349					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAGCTGGACGCAGTTTAAAT	0.448													G|||	14	0.00279553	0.003	0.0029	5008	,	,		18128	0		0.008	False		,,,				2504	0															0			10						G	,,	22,4384	28.1+/-56.4	0,22,2181	170	133	146		1029,996,1047	-2.8	1	10	dbSNP_132	146	74,8526	44.9+/-103.4	1,72,4227	no	coding-synonymous,coding-synonymous,coding-synonymous	ANK3	NM_001204403.1,NM_001204404.1,NM_020987.3	,,	1,94,6408	AA,AG,GG		0.8605,0.4993,0.7381	,,	343/1862,332/1869,349/4378	61967941	96,12910	2203	4300	6503	61637947	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1047C>T	10.37:g.61967941G>A			61637947	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		A	61967941	G	A	61967941	2	1	383	1	0	0	0	0	0	0	0	1	622	1079	38	1		1	ANK3	10	61967941	Silent	SNP	G	TCGA-36-2530-01A-01D-1526-09	56045623	61967941	73566806	37	20831											
CPN1	1369	genome.wustl.edu	37	10	101835745	101835745	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr10:101835745C>T	ENST00000370418.3	-	2	594	c.343G>A	c.(343-345)Gtc>Atc	p.V115I		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	115	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATGAGCTGGACGATGCGCTGG	0.617																																																0			10											145	118	127					10																	101835745		2203	4300	6503	101825735	SO:0001583	missense	1369			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.343G>A	10.37:g.101835745C>T	ENSP00000359446:p.Val115Ile		101825735	B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	4.315	0.057800	0.08339	.	.	ENSG00000120054	ENST00000370418	T	0.11063	2.81	5.59	-3.82	0.04281	Peptidase M14, carboxypeptidase A (2);	1.329010	0.04728	N	0.420632	T	0.10594	0.0259	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.36672	-0.9738	10	0.39692	T	0.17	-31.586	8.4018	0.32590	0.0:0.212:0.2154:0.5727	.	115	P15169	CBPN_HUMAN	I	115	ENSP00000359446:V115I	ENSP00000359446:V115I	V	-	1	0	CPN1	101825735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.232000	0.09055	-1.210000	0.02627	-0.768000	0.03414	GTC		0.617	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		T	101835745	C	T	101835745	3	4	383	1	0	0	0	0	1	0	0	0	3809	536	19	1	1065	1	CPN1	10	101835745	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	39867804	101835745	33699002	38	20832											
COL17A1	1308	genome.wustl.edu	37	10	105840428	105840428	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr10:105840428C>A	ENST00000353479.5	-	2	294	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	COL17A1_ENST00000393211.3_Missense_Mutation_p.D2Y|COL17A1_ENST00000369733.3_Missense_Mutation_p.D2Y	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	2	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGTTACATCCATACCATAG	0.328																																																0			10											132	122	125					10																	105840428		2203	4300	6503	105830418	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4G>T	10.37:g.105840428C>A	ENSP00000340937:p.Asp2Tyr		105830418	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131357	0.56828	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.50001	0.76;0.76;0.76	5.21	5.21	0.72293	.	0.000000	0.48286	D	0.000188	T	0.67748	0.2926	M	0.69823	2.125	0.46061	D	0.998843	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.66497	0.944;0.91;0.879	T	0.71244	-0.4650	10	0.87932	D	0	-11.6445	18.1205	0.89569	0.0:1.0:0.0:0.0	.	2;2;2	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	Y	2	ENSP00000340937:D2Y;ENSP00000358748:D2Y;ENSP00000376905:D2Y	ENSP00000340937:D2Y	D	-	1	0	COL17A1	105830418	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	4.918000	0.63376	2.599000	0.87857	0.655000	0.94253	GAT		0.328	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		A	105840428	C	A	105840428	3	1	383	1	0	0	0	0	1	0	0	0	3674	855	30	3	4709	3	COL17A1	10	105840428	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	4004683	105840428	29694319	39	20833											
OR4D6	219983	genome.wustl.edu	37	11	59224755	59224755	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr11:59224755G>T	ENST00000300127.2	+	1	345	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCACTTTGCTGGTGGGGCAGA	0.468																																																0			11											164	163	163					11																	59224755		2201	4295	6496	58981331	SO:0001583	missense	219983			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.322G>T	11.37:g.59224755G>T	ENSP00000300127:p.Gly108Cys		58981331	B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430560	0.62844	.	.	ENSG00000166884	ENST00000300127	T	0.00406	7.55	6.0	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000047	T	0.01353	0.0044	M	0.90595	3.13	0.25499	N	0.987574	D	0.58970	0.984	P	0.60473	0.875	T	0.14896	-1.0456	10	0.72032	D	0.01	-8.2848	14.1113	0.65123	0.0727:0.0:0.9273:0.0	.	108	Q8NGJ1	OR4D6_HUMAN	C	108	ENSP00000300127:G108C	ENSP00000300127:G108C	G	+	1	0	OR4D6	58981331	0.616000	0.27035	0.998000	0.56505	0.998000	0.95712	2.768000	0.47645	1.542000	0.49330	0.650000	0.86243	GGT		0.468	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		T	59224755	G	T	59224755	3	4	383	1	0	0	0	0	1	0	0	0	11058	1348	47	3	324	3	OR4D6	11	59224755	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		59224755	75781761	40	20834											
ZP1	22917	genome.wustl.edu	37	11	60637083	60637083	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr11:60637083C>T	ENST00000278853.5	+	3	392	c.392C>T	c.(391-393)gCt>gTt	p.A131V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	131					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCACAAGACGCTACTCTGATC	0.582																																																0			11											143	137	139					11																	60637083		2203	4299	6502	60393659	SO:0001583	missense	22917			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.392C>T	11.37:g.60637083C>T	ENSP00000278853:p.Ala131Val		60393659		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	1.401	-0.578099	0.03854	.	.	ENSG00000149506	ENST00000278853	T	0.20598	2.06	4.5	-2.81	0.05805	.	1.558530	0.04267	N	0.341366	T	0.04363	0.0120	N	0.00210	-1.845	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44283	-0.9338	10	0.02654	T	1	-3.2458	10.8189	0.46593	0.0:0.1498:0.0:0.8502	.	131	P60852	ZP1_HUMAN	V	131	ENSP00000278853:A131V	ENSP00000278853:A131V	A	+	2	0	ZP1	60393659	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.035000	0.12205	-0.382000	0.07870	0.460000	0.39030	GCT		0.582	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		T	60637083	C	T	60637083	3	4	383	1	0	0	0	0	1	0	0	0	18215	797	28	2	402	2	ZP1	11	60637083	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	1412328	60637083	74369433	41	20835											
XRRA1	143570	genome.wustl.edu	37	11	74632354	74632354	+	Silent	SNP	G	G	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr11:74632354G>C	ENST00000340360.6	-	8	868	c.537C>G	c.(535-537)gcC>gcG	p.A179A	XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Silent_p.A179A	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						AATCACAGATGGCCTCCACAG	0.522																																																0			11											86	89	88					11																	74632354		2035	4190	6225	74310002	SO:0001819	synonymous_variant	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.537C>G	11.37:g.74632354G>C			74310002		Silent	SNP	ENST00000340360.6	37	CCDS44680.1																																																																																				0.522	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		C	74632354	G	C	74632354	2	2	383	1	0	0	0	0	0	0	0	1	17461	1335	47	3		3	XRRA1	11	74632354	Silent	SNP	G	TCGA-36-2530-01A-01D-1526-09	13995271	74632354	60374162	42	20836											
CASP1	834	genome.wustl.edu	37	11	104905082	104905082	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr11:104905082C>G	ENST00000533400.1	-	2	162	c.127G>C	c.(127-129)Gta>Cta	p.V43L	CASP1_ENST00000527979.1_Missense_Mutation_p.V27L|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.V43L|CASP1_ENST00000598974.1_Missense_Mutation_p.V43L|CASP1_ENST00000593315.1_Missense_Mutation_p.V43L|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.V43L|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.V43L|CASP1_ENST00000528974.1_Missense_Mutation_p.V4L	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	43	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCACGTTTTACTTTCTCCATC	0.418																																					NSCLC(41;1246 1743 4934)											0			11											323	300	308					11																	104905082		2202	4299	6501	104410292	SO:0001583	missense	834			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.127G>C	11.37:g.104905082C>G	ENSP00000433138:p.Val43Leu		104410292	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	6.506	0.461500	0.12342	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T	0.46451	0.87;1.78;1.78;1.78;1.78;0.87	4.83	-4.05	0.03998	DEATH-like (2);Caspase Recruitment (3);	0.519770	0.21002	N	0.081843	T	0.48696	0.1514	L	0.60845	1.875	0.09310	N	1	P;B;B;B;B	0.38992	0.653;0.01;0.0;0.002;0.007	P;B;B;B;B	0.53649	0.731;0.032;0.002;0.032;0.017	T	0.51787	-0.8661	10	0.37606	T	0.19	.	12.5221	0.56065	0.0:0.2829:0.0:0.7171	.	43;4;43;43;27	B4DKN4;B4DVD8;P29466-2;P29466;G3V169	.;.;.;CASP1_HUMAN;.	L	27;43;43;43;43;4	ENSP00000432340:V27L;ENSP00000433138:V43L;ENSP00000410076:V43L;ENSP00000376844:V43L;ENSP00000434779:V43L;ENSP00000434259:V4L	ENSP00000376844:V43L	V	-	1	0	CASP1	104410292	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.675000	0.05227	-1.119000	0.02958	-0.259000	0.10710	GTA		0.418	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		G	104905082	C	G	104905082	3	3	383	1	0	0	0	0	1	0	0	0	2668	565	20	3	1119	3	CASP1	11	104905082	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	30272728	104905082	30101434	43	20837											
TECTA	7007	genome.wustl.edu	37	11	121000761	121000761	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr11:121000761G>T	ENST00000392793.1	+	10	3053	c.2782G>T	c.(2782-2784)Ggg>Tgg	p.G928W	TECTA_ENST00000264037.2_Missense_Mutation_p.G928W			O75443	TECTA_HUMAN	tectorin alpha	928	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGTGCCATGGGGTGGTGAA	0.587																																																0			11											72	69	70					11																	121000761		2203	4299	6502	120505971	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2782G>T	11.37:g.121000761G>T	ENSP00000376543:p.Gly928Trp		120505971		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678789	0.47886	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.77098	-1.07;-1.07	5.78	3.93	0.45458	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.420496	0.27482	N	0.019179	T	0.79528	0.4461	L	0.45137	1.4	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.69235	-0.5198	10	0.72032	D	0.01	.	6.4303	0.21792	0.2004:0.0:0.6661:0.1335	.	928	O75443	TECTA_HUMAN	W	928	ENSP00000376543:G928W;ENSP00000264037:G928W	ENSP00000264037:G928W	G	+	1	0	TECTA	120505971	0.391000	0.25221	0.057000	0.19452	0.995000	0.86356	0.956000	0.29202	0.816000	0.34421	0.650000	0.86243	GGG		0.587	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	121000761	G	T	121000761	3	4	383	1	0	0	0	0	1	0	0	0	15747	1348	47	3	2816	3	TECTA	11	121000761	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09	16095679	121000761	14005755	44	20838											
BCL2L14	79370	genome.wustl.edu	37	12	12243719	12243719	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr12:12243719A>T	ENST00000308721.5	+	4	820	c.614A>T	c.(613-615)gAa>gTa	p.E205V	BCL2L14_ENST00000396367.1_Missense_Mutation_p.E205V|BCL2L14_ENST00000266434.4_Missense_Mutation_p.E205V|BCL2L14_ENST00000589718.1_Missense_Mutation_p.E205V|BCL2L14_ENST00000396369.1_Missense_Mutation_p.E205V|BCL2L14_ENST00000586576.1_Missense_Mutation_p.E238V	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	205					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		ACAGATGAAGAAGAACAAATA	0.373																																																0			12											83	78	80					12																	12243719		2203	4300	6503	12134986	SO:0001583	missense	79370			AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.614A>T	12.37:g.12243719A>T	ENSP00000309132:p.Glu205Val		12134986	A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450110	0.43531	.	.	ENSG00000121380	ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.19	5.19	0.71726	.	0.372898	0.27901	N	0.017382	T	0.49406	0.1555	M	0.72118	2.19	0.41365	D	0.987453	D;D	0.59357	0.971;0.985	P;P	0.59546	0.79;0.859	T	0.53767	-0.8392	10	0.87932	D	0	-13.7694	12.0075	0.53268	1.0:0.0:0.0:0.0	.	205;205	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	V	205	ENSP00000309132:E205V;ENSP00000266434:E205V;ENSP00000379655:E205V;ENSP00000379653:E205V	ENSP00000266434:E205V	E	+	2	0	BCL2L14	12134986	1.000000	0.71417	0.998000	0.56505	0.567000	0.35839	5.422000	0.66453	2.268000	0.75426	0.459000	0.35465	GAA		0.373	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		T	12243719	A	T	12243719	3	4	383	1	0	0	0	0	1	0	0	0	1372	246	9	5	624	5	BCL2L14	12	12243719	Missense_Mutation	SNP	A	TCGA-36-2530-01A-01D-1526-09		12243719	121608176	45	20839											
OBFC2B	79035	genome.wustl.edu	37	12	56620151	56620151	+	Silent	SNP	C	C	T	rs202142173		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr12:56620151C>T	ENST00000380198.2	+	5	882	c.384C>T	c.(382-384)gaC>gaT	p.D128D	NABP2_ENST00000341463.5_Silent_p.D128D|NABP2_ENST00000267023.4_Silent_p.D128D			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	128					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TGCAGAACGACAGCAACCCTT	0.542													c|||	1	0.000199681	0	0	5008	,	,		15244	0		0.001	False		,,,				2504	0															0			12											234	186	202					12																	56620151		2203	4300	6503	54906418	SO:0001819	synonymous_variant	79035			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.384C>T	12.37:g.56620151C>T			54906418	A6NDF8|Q6XYC8	Silent	SNP	ENST00000380198.2	37	CCDS8911.1																																																																																				0.542	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		T	56620151	C	T	56620151	2	4	383	1	0	0	0	0	0	0	0	1	10809	477	17	2		2	OBFC2B	12	56620151	Silent	SNP	C	TCGA-36-2530-01A-01D-1526-09	44376432	56620151	77231744	46	20840											
RPH3A	22895	genome.wustl.edu	37	12	113314560	113314560	+	Missense_Mutation	SNP	G	G	A	rs370825883		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr12:113314560G>A	ENST00000389385.4	+	13	1557	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	RPH3A_ENST00000420983.2_Missense_Mutation_p.G354R|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.G354R|RPH3A_ENST00000551052.1_Missense_Mutation_p.G350R|RPH3A_ENST00000415485.3_Missense_Mutation_p.G354R|RPH3A_ENST00000548866.1_Missense_Mutation_p.G305R|RPH3A_ENST00000447659.2_Missense_Mutation_p.G305R	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	354	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCACCCCTCCGGACCCTATTC	0.662																																																0			12						G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	52	50	51		1060,1048	4.4	0	12		51	0,8600		0,0,4300	no	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	354/695,350/691	113314560	1,13005	2203	4300	6503	111798943	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1060G>A	12.37:g.113314560G>A	ENSP00000374036:p.Gly354Arg		111798943	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305430	0.60305	2.27E-4	0.0	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.29	4.4	0.53042	.	0.320980	0.26119	N	0.026229	T	0.67116	0.2859	L	0.59436	1.845	0.19775	N	0.999957	D;D;D;D	0.65815	0.987;0.992;0.992;0.995	P;P;P;P	0.56398	0.727;0.631;0.631;0.797	T	0.58312	-0.7658	10	0.17369	T	0.5	.	11.8154	0.52207	0.0865:0.0:0.9135:0.0	.	305;354;354;350	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	R	354;354;305;350;354;305;354;6;6	ENSP00000440384:G354R;ENSP00000374036:G354R;ENSP00000413254:G305R;ENSP00000448297:G350R;ENSP00000405357:G354R;ENSP00000450347:G305R;ENSP00000408889:G354R	ENSP00000374036:G354R	G	+	1	0	RPH3A	111798943	0.549000	0.26481	0.004000	0.12327	0.004000	0.04260	2.370000	0.44240	1.220000	0.43490	0.511000	0.50034	GGA		0.662	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113314560	G	A	113314560	3	1	383	1	0	0	0	0	1	0	0	0	13554	1117	39	1	1102	1	RPH3A	12	113314560	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09	56694409	113314560	20537335	47	20841											
TMEM132D	121256	genome.wustl.edu	37	12	130185032	130185032	+	Silent	SNP	G	G	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr12:130185032G>A	ENST00000422113.2	-	2	617	c.291C>T	c.(289-291)taC>taT	p.Y97Y	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	97					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Y97Y(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAAGGCCCGTAGCTGGCAT	0.488																																																1	Substitution - coding silent(1)	large_intestine(1)	12											65	65	65					12																	130185032		2203	4300	6503	128750985	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.291C>T	12.37:g.130185032G>A			128750985	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	130185032	G	A	130185032	2	1	383	1	0	0	0	0	0	0	0	1	16047	1140	40	1		1	TMEM132D	12	130185032	Silent	SNP	G	TCGA-36-2530-01A-01D-1526-09	16870472	130185032	3666863	48	20842											
TPTE2	93492	genome.wustl.edu	37	13	20004655	20004655	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr13:20004655T>A	ENST00000400230.2	-	17	1299	c.1255A>T	c.(1255-1257)Atg>Ttg	p.M419L	TPTE2_ENST00000382977.4_Missense_Mutation_p.M419L|TPTE2_ENST00000400103.2_Missense_Mutation_p.M308L|TPTE2_ENST00000382975.4_Missense_Mutation_p.M379L|TPTE2_ENST00000457266.2_Missense_Mutation_p.M308L|TPTE2_ENST00000255310.6_Missense_Mutation_p.M342L|TPTE2_ENST00000390680.2_Missense_Mutation_p.M342L|TPTE2_ENST00000382978.1_Missense_Mutation_p.M379L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	419	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTTTTCTCCATTACTACTTGG	0.323																																																0			13											68	61	63					13																	20004655		2202	4300	6502	18902655	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1255A>T	13.37:g.20004655T>A	ENSP00000383089:p.Met419Leu		18902655	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	t	3.962	-0.010089	0.07727	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	2.24	2.24	0.28232	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.511109	0.20561	N	0.089915	T	0.78059	0.4224	L	0.54323	1.7	0.09310	N	1	B;B;B	0.13145	0.005;0.007;0.006	B;B;B	0.17098	0.017;0.01;0.017	T	0.63143	-0.6703	9	.	.	.	-11.0813	6.4738	0.22024	0.0:0.0:0.0:1.0	.	308;342;419	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	L	379;308;419;342;342;419;379;308;419;288	ENSP00000372438:M379L;ENSP00000382974:M308L;ENSP00000383089:M419L;ENSP00000255310:M342L;ENSP00000375098:M342L;ENSP00000372437:M419L;ENSP00000372435:M379L;ENSP00000442218:M308L	.	M	-	1	0	TPTE2	18902655	0.000000	0.05858	0.003000	0.11579	0.160000	0.22226	-0.202000	0.09451	1.288000	0.44600	0.163000	0.16589	ATG		0.323	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		A	20004655	T	A	20004655	3	1	383	1	0	0	0	0	1	0	0	0	16431	1493	52	5	329	5	TPTE2	13	20004655	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09		20004655	95165223	49	20843											
CSPG4	1464	genome.wustl.edu	37	15	75975295	75975295	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr15:75975295T>A	ENST00000308508.5	-	6	4629	c.4537A>T	c.(4537-4539)Atc>Ttc	p.I1513F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1513	Gly/Ser-rich (glycosaminoglycan attachment domain).				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGCTGCTCGATGGTGTAGACC	0.692																																																0			15											20	21	21					15																	75975295		2191	4292	6483	73762350	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4537A>T	15.37:g.75975295T>A	ENSP00000312506:p.Ile1513Phe		73762350	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	15.90	2.970384	0.53614	.	.	ENSG00000173546	ENST00000308508	T	0.39056	1.1	4.05	-1.28	0.09318	.	0.406771	0.20804	N	0.085377	T	0.28134	0.0694	M	0.63843	1.955	0.46849	D	0.999221	P	0.35383	0.498	B	0.30572	0.117	T	0.05716	-1.0868	10	0.42905	T	0.14	.	1.0331	0.01542	0.1479:0.1712:0.3061:0.3749	.	1513	Q6UVK1	CSPG4_HUMAN	F	1513	ENSP00000312506:I1513F	ENSP00000312506:I1513F	I	-	1	0	CSPG4	73762350	0.998000	0.40836	0.950000	0.38849	0.416000	0.31233	0.396000	0.20867	-0.330000	0.08514	0.254000	0.18369	ATC		0.692	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		A	75975295	T	A	75975295	3	1	383	1	0	0	0	0	1	0	0	0	3960	1464	51	5	2451	5	CSPG4	15	75975295	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09		75975295	26556097	50	20844											
NARFL	64428	genome.wustl.edu	37	16	780487	780487	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr16:780487G>A	ENST00000251588.2	-	11	1377	c.1361C>T	c.(1360-1362)gCa>gTa	p.A454V	NARFL_ENST00000568545.1_Missense_Mutation_p.A352V|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000540986.1_Missense_Mutation_p.A352V	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	454					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CAAGCGACCTGCACACTCCGA	0.672																																																0			16											76	72	73					16																	780487		2200	4298	6498	720488	SO:0001583	missense	64428			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 1"	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1361C>T	16.37:g.780487G>A	ENSP00000251588:p.Ala454Val		720488	A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583825	0.28268	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	T;T	0.55234	0.53;0.53	4.12	4.12	0.48240	Iron hydrogenase, small subunit-like (3);Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	M	0.67625	2.065	0.80722	D	1	P	0.41041	0.736	B	0.44278	0.445	T	0.64193	-0.6465	10	0.52906	T	0.07	-2.6129	15.8653	0.79060	0.0:0.0:1.0:0.0	.	454	Q9H6Q4	NARFL_HUMAN	V	454;352	ENSP00000251588:A454V;ENSP00000444008:A352V	ENSP00000251588:A454V	A	-	2	0	NARFL	720488	0.996000	0.38824	0.062000	0.19696	0.003000	0.03518	3.528000	0.53524	2.285000	0.76669	0.436000	0.28706	GCA		0.672	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		A	780487	G	A	780487	3	1	383	1	0	0	0	0	1	0	0	0	10168	1319	46	2	73	2	NARFL	16	780487	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		780487	89574266	51	20845											
ZC3H7A	29066	genome.wustl.edu	37	16	11862301	11862301	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr16:11862301C>G	ENST00000396516.2	-	11	1427	c.1230G>C	c.(1228-1230)caG>caC	p.Q410H	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.Q410H			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	410						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CATTTCTAGGCTGACTTGAAA	0.383																																																0			16											85	88	87					16																	11862301		2197	4300	6497	11769802	SO:0001583	missense	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1230G>C	16.37:g.11862301C>G	ENSP00000379773:p.Gln410His		11769802	D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637680	0.29157	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.10288	2.89;2.89	5.74	2.24	0.28232	.	0.390052	0.31051	N	0.008350	T	0.07188	0.0182	L	0.41236	1.265	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.29088	-1.0023	10	0.34782	T	0.22	.	1.9851	0.03435	0.1313:0.4415:0.1856:0.2416	.	131;410	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	H	410	ENSP00000347999:Q410H;ENSP00000379773:Q410H	ENSP00000347999:Q410H	Q	-	3	2	ZC3H7A	11769802	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.474000	0.22148	0.747000	0.32809	0.655000	0.94253	CAG		0.383	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		G	11862301	C	G	11862301	3	3	383	1	0	0	0	0	1	0	0	0	17572	796	28	3	1733	3	ZC3H7A	16	11862301	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	11081814	11862301	78492452	52	20846											
SYT17	51760	genome.wustl.edu	37	16	19194849	19194849	+	Splice_Site	SNP	G	G	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr16:19194849G>T	ENST00000355377.2	+	5	729		c.e5-1		SYT17_ENST00000562711.2_Splice_Site|SYT17_ENST00000562034.1_Splice_Site|SYT17_ENST00000568115.1_Splice_Site	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII						exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GTGGCTCTCAGGTCTTGAGTC	0.507																																																0			16											93	91	92					16																	19194849		2197	4300	6497	19102350	SO:0001630	splice_region_variant	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.332-1G>T	16.37:g.19194849G>T			19102350	O43330|Q9NZ18	Splice_Site	SNP	ENST00000355377.2	37	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	14.42	2.529615	0.44969	.	.	ENSG00000103528	ENST00000355377	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4121	0.94679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYT17	19102350	1.000000	0.71417	0.997000	0.53966	0.535000	0.34838	7.808000	0.86044	2.573000	0.86826	0.556000	0.70494	.		0.507	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524	Intron	T	19194849	G	T	19194849	5	4	383	1	0	0	0	0	0	0	1	0	15473	1014	35	3	349	3	SYT17	16	19194849	Splice_Site	SNP	G	TCGA-36-2530-01A-01D-1526-09	7332548	19194849	71159904	53	20847											
SETD1A	9739	genome.wustl.edu	37	16	30982858	30982858	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr16:30982858A>G	ENST00000262519.8	+	13	3862	c.3176A>G	c.(3175-3177)gAg>gGg	p.E1059G		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1059	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						tcatcctcTGAGTCCTCCTCT	0.607																																																0			16											36	40	39					16																	30982858		2197	4300	6497	30890359	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3176A>G	16.37:g.30982858A>G	ENSP00000262519:p.Glu1059Gly		30890359	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076928	0.36662	.	.	ENSG00000099381	ENST00000262519	T	0.57595	0.39	5.09	3.9	0.45041	.	20.719700	0.00166	N	0.000011	T	0.42675	0.1213	N	0.24115	0.695	0.26051	N	0.981477	P	0.42692	0.787	B	0.38880	0.284	T	0.41627	-0.9498	10	0.48119	T	0.1	.	8.3565	0.32333	0.8006:0.1994:0.0:0.0	.	1059	O15047	SET1A_HUMAN	G	1059	ENSP00000262519:E1059G	ENSP00000262519:E1059G	E	+	2	0	SETD1A	30890359	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	2.873000	0.48475	2.221000	0.72209	0.383000	0.25322	GAG		0.607	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		G	30982858	A	G	30982858	3	3	383	1	0	0	0	0	1	0	0	0	14133	304	11	4	3222	4	SETD1A	16	30982858	Missense_Mutation	SNP	A	TCGA-36-2530-01A-01D-1526-09	11788009	30982858	59371895	54	20848											
GEMIN4	50628	genome.wustl.edu	37	17	650310	650310	+	Missense_Mutation	SNP	G	G	A	rs559242583	byFrequency	TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr17:650310G>A	ENST00000319004.5	-	2	1091	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	GEMIN4_ENST00000576778.1_Missense_Mutation_p.R314W|GEMIN4_ENST00000437269.1_3'UTR	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	325					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCCACTCCCGCAGCAGGTGG	0.617													G|||	44	0.00878594	0	0	5008	,	,		20355	0		0.001	False		,,,				2504	0.044															0			17											55	62	60					17																	650310		2088	4207	6295	597060	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.973C>T	17.37:g.650310G>A	ENSP00000321706:p.Arg325Trp		597060	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592411	0.46214	.	.	ENSG00000179409	ENST00000319004	T	0.15603	2.41	5.54	2.18	0.27775	.	1.033190	0.07576	N	0.919412	T	0.20333	0.0489	L	0.43152	1.355	0.40357	D	0.979198	D	0.65815	0.995	P	0.46825	0.528	T	0.10753	-1.0616	10	0.49607	T	0.09	-8.5306	9.4904	0.38955	0.0749:0.4192:0.5059:0.0	.	325	P57678	GEMI4_HUMAN	W	325	ENSP00000321706:R325W	ENSP00000321706:R325W	R	-	1	2	GEMIN4	597060	0.785000	0.28726	0.962000	0.40283	0.658000	0.38924	1.206000	0.32321	0.649000	0.30751	-0.257000	0.10917	CGG		0.617	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		A	650310	G	A	650310	3	1	383	1	0	0	0	0	1	0	0	0	6330	1086	38	1	2207	1	GEMIN4	17	650310	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		650310	80544900	55	20849											
CDRT1	374286	genome.wustl.edu	37	17	15510908	15510908	+	Silent	SNP	A	A	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr17:15510908A>G	ENST00000395906.3	-	6	1211	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N	RP11-385D13.1_ENST00000455584.2_Silent_p.N714N	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	404										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GAATGCGAACATTGTAGGTCC	0.488																																																0			17											105	98	100					17																	15510908		2203	4300	6503	15451633	SO:0001819	synonymous_variant	374286			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1212T>C	17.37:g.15510908A>G			15451633	O43848|O95611	Silent	SNP	ENST00000395906.3	37	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	A	0.705	-0.789168	0.02884	.	.	ENSG00000251537	ENST00000455584	.	.	.	4.99	-8.28	0.01013	.	.	.	.	.	T	0.43700	0.1259	.	.	.	0.26355	N	0.97714	.	.	.	.	.	.	T	0.44711	-0.9310	4	.	.	.	.	18.4637	0.90748	0.2684:0.0:0.7316:0.0	.	.	.	.	T	729	.	.	M	-	2	0	RP11-385D13.1	15451633	0.102000	0.21896	0.120000	0.21714	0.187000	0.23431	-0.424000	0.07025	-1.600000	0.01603	-0.441000	0.05720	ATG		0.488	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		G	15510908	A	G	15510908	2	3	383	1	0	0	0	0	0	0	0	1	3174	214	8	4		4	CDRT1	17	15510908	Silent	SNP	A	TCGA-36-2530-01A-01D-1526-09	14860598	15510908	65684302	56	20850											
TRIM16	10626	genome.wustl.edu	37	17	15539456	15539456	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr17:15539456G>C	ENST00000578237.1	-	8	1598	c.743C>G	c.(742-744)gCc>gGc	p.A248G	TRIM16_ENST00000416464.2_Missense_Mutation_p.A118G|TRIM16_ENST00000577886.1_Missense_Mutation_p.A32G|TRIM16_ENST00000336708.7_Missense_Mutation_p.A248G|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.A248G|TRIM16_ENST00000581224.1_5'Flank|TRIM16_ENST00000579219.1_Missense_Mutation_p.A32G			O95361	TRI16_HUMAN	tripartite motif containing 16	248					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GATACCGTTGGCCTGGCTCAG	0.572																																																0			17											96	82	87					17																	15539456		2188	4294	6482	15480181	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.743C>G	17.37:g.15539456G>C	ENSP00000463188:p.Ala248Gly		15480181	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.527|9.527	1.109701|1.109701	0.20714|0.20714	.|.	.|.	ENSG00000221926|ENSG00000251537	ENST00000336708;ENST00000416464|ENST00000455584	T;T|.	0.72051|.	-0.35;-0.62|.	3.97|3.97	2.98|2.98	0.34508|0.34508	.|.	0.072708|.	0.53938|.	U|.	0.000046|.	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.59436|0.59436	1.845|1.845	0.27119|0.27119	N|N	0.962194|0.962194	D;D;P|.	0.53745|.	0.962;0.962;0.734|.	P;P;B|.	0.50314|.	0.616;0.637;0.257|.	T|T	0.32079|0.32079	-0.9920|-0.9920	10|5	0.72032|.	D|.	0.01|.	.|.	8.7827|8.7827	0.34800|0.34800	0.1162:0.0:0.8838:0.0|0.1162:0.0:0.8838:0.0	.|.	118;248;262|.	B3KP96;O95361;Q59EB2|.	.;TRI16_HUMAN;.|.	G|A	248;118|263	ENSP00000338989:A248G;ENSP00000399918:A118G|.	ENSP00000338989:A248G|.	A|P	-|-	2|1	0|0	TRIM16|RP11-385D13.1	15480181|15480181	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.391000|0.391000	0.30476|0.30476	4.916000|4.916000	0.63362|0.63362	1.000000|1.000000	0.39049|0.39049	0.555000|0.555000	0.69702|0.69702	GCC|CCA		0.572	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		C	15539456	G	C	15539456	3	2	383	1	0	0	0	0	1	0	0	0	16491	1203	42	3	967	3	TRIM16	17	15539456	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09	28548	15539456	65655754	57	20851											
ATPAF2	91647	genome.wustl.edu	37	17	17942245	17942245	+	Missense_Mutation	SNP	C	C	T	rs375062622		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr17:17942245C>T	ENST00000474627.3	-	1	237	c.83G>A	c.(82-84)aGt>aAt	p.S28N	ATPAF2_ENST00000585101.1_Missense_Mutation_p.S28N|GID4_ENST00000376345.3_5'Flank|GID4_ENST00000268719.4_5'Flank	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	28					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					TGGCCCCGGACTCATAGAAGC	0.687																																																0			17						C	ASN/SER	0,4404		0,0,2202	20	23	22		83	1.2	0	17		22	1,8599		0,1,4299	no	missense	ATPAF2	NM_145691.3	46	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	28/290	17942245	1,13003	2202	4300	6502	17882970	SO:0001583	missense	91647			AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"Mitochondrial respiratory chain complex assembly factors"	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.83G>A	17.37:g.17942245C>T	ENSP00000417190:p.Ser28Asn		17882970	A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	37	CCDS32585.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488721	0.26686	0.0	1.16E-4	ENSG00000171953	ENST00000474627;ENST00000444058	T;T	0.77098	-1.06;-1.07	4.51	1.23	0.21249	.	1.006310	0.07995	N	0.987813	T	0.52980	0.1768	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.11329	0.006;0.004	T	0.36383	-0.9750	10	0.16420	T	0.52	0.0074	2.7451	0.05264	0.2091:0.5263:0.1609:0.1037	.	28;28	B4DG98;Q8N5M1	.;ATPF2_HUMAN	N	28	ENSP00000417190:S28N;ENSP00000397198:S28N	ENSP00000434980:S28N	S	-	2	0	ATPAF2	17882970	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.020000	0.30027	0.200000	0.20447	0.561000	0.74099	AGT		0.687	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		T	17942245	C	T	17942245	3	4	383	1	0	0	0	0	1	0	0	0	1201	565	20	2	818	2	ATPAF2	17	17942245	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	2402789	17942245	63252965	58	20852											
ERBB2	2064	genome.wustl.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)	17											251	204	220					17																	37868208		2203	4300	6503	35121734	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		35121734	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			T	37868208	C	T	37868208	3	4	383	1	0	0	0	0	1	0	0	0	5206	855	30	2	959	2	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	19925963	37868208	43327002	59	20853											
EZH1	2145	genome.wustl.edu	37	17	40858140	40858140	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr17:40858140T>G	ENST00000428826.2	-	16	1845	c.1724A>C	c.(1723-1725)tAt>tCt	p.Y575S	EZH1_ENST00000590783.1_Intron|EZH1_ENST00000435174.1_Missense_Mutation_p.Y436S|EZH1_ENST00000590078.1_Missense_Mutation_p.Y505S|EZH1_ENST00000592743.1_Missense_Mutation_p.Y575S|EZH1_ENST00000585893.1_Missense_Mutation_p.Y535S|EZH1_ENST00000415827.2_Missense_Mutation_p.Y566S			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	575	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CACTGCCAGATAGCAAGGACA	0.522																																																0			17											173	126	142					17																	40858140		2203	4300	6503	38111666	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1724A>C	17.37:g.40858140T>G	ENSP00000404658:p.Tyr575Ser		38111666	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.871042	0.91587	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.80033	-1.33;-1.33	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.90741	0.7094	M	0.86573	2.825	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.998	D;D;D;D;D	0.91635	0.999;0.991;0.991;0.991;0.98	D	0.92378	0.5911	10	0.87932	D	0	.	15.4593	0.75342	0.0:0.0:0.0:1.0	.	436;535;581;505;575	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	S	578;575;535;436	ENSP00000404658:Y575S;ENSP00000404071:Y436S	ENSP00000264646:Y578S	Y	-	2	0	EZH1	38111666	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.864000	0.87037	2.229000	0.72834	0.533000	0.62120	TAT		0.522	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		G	40858140	T	G	40858140	3	3	383	1	0	0	0	0	1	0	0	0	5333	1406	49	5	543	5	EZH1	17	40858140	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09	2989932	40858140	40337070	60	20854											
C17orf56	146705	genome.wustl.edu	37	17	79205240	79205240	+	Silent	SNP	C	C	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr17:79205240C>A	ENST00000300714.3	-	10	909	c.852G>T	c.(850-852)ctG>ctT	p.L284L	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Silent_p.L200L	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	284						cytoplasmic vesicle (GO:0031410)											GGCAGGTCAGCAGCTGCAGCA	0.677																																																0			17											29	20	23					17																	79205240		2185	4274	6459	76819835	SO:0001819	synonymous_variant	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.852G>T	17.37:g.79205240C>A			76819835	Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	CCDS11779.1																																																																																				0.677	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		A	79205240	C	A	79205240	2	1	383	1	0	0	0	0	0	0	0	1	1864	697	25	3		3	C17orf56	17	79205240	Silent	SNP	C	TCGA-36-2530-01A-01D-1526-09	38347100	79205240	1989970	61	20855											
COLEC12	81035	genome.wustl.edu	37	18	335101	335101	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr18:335101G>T	ENST00000400256.3	-	6	1664	c.1457C>A	c.(1456-1458)cCa>cAa	p.P486Q		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	486	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGGTCCAATTGGGCCTCTCTC	0.667																																																0			18											32	34	34					18																	335101		2195	4286	6481	325101	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1457C>A	18.37:g.335101G>T	ENSP00000383115:p.Pro486Gln		325101	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	9.953	1.220581	0.22457	.	.	ENSG00000158270	ENST00000400256	T	0.12039	2.72	5.67	5.67	0.87782	.	0.265505	0.43416	D	0.000572	T	0.21674	0.0522	L	0.52823	1.66	0.41125	D	0.985847	P	0.36789	0.57	B	0.42214	0.38	T	0.01156	-1.1434	10	0.27082	T	0.32	-3.9531	19.7698	0.96359	0.0:0.0:1.0:0.0	.	486	Q5KU26	COL12_HUMAN	Q	486	ENSP00000383115:P486Q	ENSP00000383115:P486Q	P	-	2	0	COLEC12	325101	0.997000	0.39634	0.943000	0.38184	0.057000	0.15508	3.141000	0.50593	2.659000	0.90383	0.655000	0.94253	CCA		0.667	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			T	335101	G	T	335101	3	4	383	1	0	0	0	0	1	0	0	0	3712	1348	47	3	791	3	COLEC12	18	335101	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		335101	77742147	62	20856											
RAX	30062	genome.wustl.edu	37	18	56939652	56939652	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr18:56939652C>G	ENST00000334889.3	-	2	670	c.484G>C	c.(484-486)Gac>Cac	p.D162H	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	162					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	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 positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CTGTACACGTCCGGGTAGTGG	0.627																																					GBM(150;770 1898 17679 24325 37807)											0			18											71	70	70					18																	56939652		2203	4300	6503	55090632	SO:0001583	missense	30062			AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.484G>C	18.37:g.56939652C>G	ENSP00000334813:p.Asp162His		55090632	Q86V11	Missense_Mutation	SNP	ENST00000334889.3	37	CCDS11972.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721796	0.96839	.	.	ENSG00000134438	ENST00000334889	D	0.96041	-3.89	6.04	6.04	0.98038	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99047	1.0826	10	0.87932	D	0	.	19.3507	0.94384	0.0:1.0:0.0:0.0	.	162	Q9Y2V3	RX_HUMAN	H	162	ENSP00000334813:D162H	ENSP00000334813:D162H	D	-	1	0	RAX	55090632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.797000	0.85911	2.873000	0.98535	0.561000	0.74099	GAC		0.627	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			G	56939652	C	G	56939652	3	3	383	1	0	0	0	0	1	0	0	0	13099	855	30	3	564	3	RAX	18	56939652	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	56604551	56939652	21137596	63	20857											
PDE4A	5141	genome.wustl.edu	37	19	10571778	10571778	+	Splice_Site	SNP	C	C	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr19:10571778C>A	ENST00000352831.6	+	11	1574	c.1464C>A	c.(1462-1464)acC>acA	p.T488T	PDE4A_ENST00000380702.2_Splice_Site_p.T466T|PDE4A_ENST00000293683.5_Splice_Site_p.T462T|PDE4A_ENST00000592685.1_Splice_Site_p.T466T|PDE4A_ENST00000344979.3_Splice_Site_p.T249T|PDE4A_ENST00000440014.2_Splice_Site_p.T427T	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	488	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TCATCAACACCAGTGAGTGGC	0.647																																																0			19											40	37	38					19																	10571778		2203	4300	6503	10432778	SO:0001630	splice_region_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1465+1C>A	19.37:g.10571778C>A			10432778	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	CCDS45961.1																																																																																				0.647	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		Silent	A	10571778	C	A	10571778	5	1	383	1	0	0	0	0	0	0	1	0	11639	608	21	3	1963	3	PDE4A	19	10571778	Splice_Site	SNP	C	TCGA-36-2530-01A-01D-1526-09		10571778	48557205	64	20858											
ZNF208	7757	genome.wustl.edu	37	19	22157526	22157526	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr19:22157526C>G	ENST00000397126.4	-	4	458	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTTTTCATACCTTCTC	0.323																																																0			19											61	60	60					19																	22157526		2036	4229	6265	21949366	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.310G>C	19.37:g.22157526C>G	ENSP00000380315:p.Glu104Gln		21949366		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.122	-1.123942	0.01770	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07216	3.21	1.54	-2.57	0.06248	.	.	.	.	.	T	0.04907	0.0132	.	.	.	0.09310	N	1	P	0.48230	0.907	B	0.44224	0.444	T	0.35549	-0.9784	8	0.13108	T	0.6	.	5.1378	0.14943	0.0:0.366:0.0:0.634	.	104	O43345	ZN208_HUMAN	Q	104	ENSP00000380315:E104Q	ENSP00000380315:E104Q	E	-	1	0	ZNF208	21949366	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	-1.935000	0.01550	-0.424000	0.07382	0.297000	0.19635	GAA		0.323	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22157526	C	G	22157526	3	3	383	1	0	0	0	0	1	0	0	0	17766	835	29	3	3536	3	ZNF208	19	22157526	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	11585748	22157526	36971457	65	20859											
ALDH16A1	126133	genome.wustl.edu	37	19	49972172	49972172	+	Missense_Mutation	SNP	C	C	T	rs139039890	byFrequency	TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr19:49972172C>T	ENST00000293350.4	+	16	2339	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R563W|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R561W|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R675W|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	726						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GACAGGAGACCGGGACCATCT	0.602													C|||	10	0.00199681	0.0076	0	5008	,	,		15599	0		0	False		,,,				2504	0															0			19						C	TRP/ARG,TRP/ARG	20,4386	27.2+/-55.0	0,20,2183	148	130	136		2023,2176	3.8	0.9	19	dbSNP_134	136	0,8600		0,0,4300	yes	missense,missense	ALDH16A1	NM_001145396.1,NM_153329.3	101,101	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	probably-damaging,probably-damaging	675/752,726/803	49972172	20,12986	2203	4300	6503	54663984	SO:0001583	missense	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2176C>T	19.37:g.49972172C>T	ENSP00000293350:p.Arg726Trp		54663984	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	CCDS12766.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	19.90	3.913589	0.72983	0.004539	0.0	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.8	3.76	0.43208	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.393425	0.23780	N	0.044629	T	0.45657	0.1353	M	0.83774	2.66	0.43283	D	0.995255	D;D;D	0.76494	0.999;0.998;0.998	D;P;P	0.68765	0.96;0.828;0.896	T	0.53947	-0.8366	10	0.66056	D	0.02	-9.2078	9.1545	0.36985	0.0:0.8975:0.0:0.1025	.	563;675;726	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	W	726;675;563;561	ENSP00000293350:R726W;ENSP00000410142:R675W;ENSP00000445088:R563W;ENSP00000398675:R561W	ENSP00000293350:R726W	R	+	1	2	ALDH16A1	54663984	0.031000	0.19500	0.909000	0.35828	0.976000	0.68499	1.345000	0.33953	1.166000	0.42689	0.456000	0.33151	CGG		0.602	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		T	49972172	C	T	49972172	3	4	383	1	0	0	0	0	1	0	0	0	488	643	23	1	2238	1	ALDH16A1	19	49972172	Missense_Mutation	SNP	C	TCGA-36-2530-01A-01D-1526-09	27814646	49972172	9156811	66	20860											
PLAGL2	5326	genome.wustl.edu	37	20	30784386	30784386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr20:30784386G>A	ENST00000246229.4	-	3	1624	c.1360C>T	c.(1360-1362)Caa>Taa	p.Q454*		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	454					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGCTGAGCTTGCAAAGTGGTA	0.612																																					Colon(163;15 1893 11280 16306 47518)											0			20											42	43	42					20																	30784386		2203	4300	6503	30248047	SO:0001587	stop_gained	5326				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1360C>T	20.37:g.30784386G>A	ENSP00000246229:p.Gln454*		30248047	A8K8T5|E1P5M3|Q92584	Nonsense_Mutation	SNP	ENST00000246229.4	37	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432237	0.96150	.	.	ENSG00000126003	ENST00000246229	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.5089	0.90909	0.0:0.0:1.0:0.0	.	.	.	.	X	454	.	ENSP00000246229:Q454X	Q	-	1	0	PLAGL2	30248047	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.663000	0.83820	2.595000	0.87683	0.655000	0.94253	CAA		0.612	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		A	30784386	G	A	30784386	4	1	383	1	0	0	0	0	0	1	0	0	12020	1328	46	2	134	2	PLAGL2	20	30784386	Nonsense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		30784386	32241134	67	20861											
BTG3	10950	genome.wustl.edu	37	21	18966581	18966581	+	Nonsense_Mutation	SNP	G	G	A	rs373951463		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr21:18966581G>A	ENST00000348354.6	-	5	845	c.589C>T	c.(589-591)Cga>Tga	p.R197*	BTG3_ENST00000339775.6_Nonsense_Mutation_p.R241*	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	197					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CCATTCCCTCGATACATTCCT	0.413																																																0			21											126	114	118					21																	18966581		2203	4299	6502	17888452	SO:0001587	stop_gained	10950			D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.589C>T	21.37:g.18966581G>A	ENSP00000284879:p.Arg197*		17888452	D3DSC4|Q53XV1|Q96ET7	Nonsense_Mutation	SNP	ENST00000348354.6	37	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554022	0.96501	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	4.27	3.34	0.38264	.	0.120895	0.36268	N	0.002691	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-7.9277	9.2524	0.37562	0.0:0.0:0.7849:0.2151	.	.	.	.	X	241;197	.	ENSP00000344609:R241X	R	-	1	2	BTG3	17888452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.182000	0.32029	1.320000	0.45209	0.591000	0.81541	CGA		0.413	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		A	18966581	G	A	18966581	4	1	383	1	0	0	0	0	0	1	0	0	1555	1066	37	1	173	1	BTG3	21	18966581	Nonsense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		18966581	29163314	68	20862											
SIK1	150094	genome.wustl.edu	37	21	44836782	44836782	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr21:44836782T>A	ENST00000270162.6	-	14	2324	c.2192A>T	c.(2191-2193)cAc>cTc	p.H731L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	731					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	AATGTGCAGGTGTGTGTCCAG	0.756																																																0			21											9	10	9					21																	44836782		2141	4167	6308	43661210	SO:0001583	missense	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.2192A>T	21.37:g.44836782T>A	ENSP00000270162:p.His731Leu		43661210	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.655955	0.29425	.	.	ENSG00000142178	ENST00000270162	T	0.71698	-0.59	5.07	3.86	0.44501	.	0.181720	0.49305	D	0.000146	T	0.54515	0.1863	L	0.32530	0.975	0.40338	D	0.979008	B	0.21606	0.058	B	0.18561	0.022	T	0.53809	-0.8386	10	0.37606	T	0.19	.	6.2884	0.21047	0.0:0.0825:0.1606:0.757	.	731	P57059	SIK1_HUMAN	L	731	ENSP00000270162:H731L	ENSP00000270162:H731L	H	-	2	0	SIK1	43661210	1.000000	0.71417	0.987000	0.45799	0.007000	0.05969	2.131000	0.42074	1.904000	0.55121	0.533000	0.62120	CAC		0.756	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		A	44836782	T	A	44836782	3	1	383	1	0	0	0	0	1	0	0	0	14320	1696	59	5	163	5	SIK1	21	44836782	Missense_Mutation	SNP	T	TCGA-36-2530-01A-01D-1526-09	25870201	44836782	3293113	69	20863											
MYO18B	84700	genome.wustl.edu	37	22	26291146	26291146	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chr22:26291146G>A	ENST00000407587.2	+	28	4739	c.4570G>A	c.(4570-4572)Gac>Aac	p.D1524N	CTA-125H2.2_ENST00000600903.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.D1523N|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1523N|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1523	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATGCGCTTCGACTGTGCTCA	0.547																																																0			22											37	41	39					22																	26291146		2190	4283	6473	24621146	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4570G>A	22.37:g.26291146G>A	ENSP00000386096:p.Asp1524Asn		24621146	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	18.44	3.623551	0.66901	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.86627	-2.15;-2.15;-1.16	5.26	5.26	0.73747	.	0.251447	0.33309	N	0.005057	D	0.91744	0.7389	L	0.53249	1.67	0.37554	D	0.9188	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.982;0.983;0.998;0.992	D	0.93184	0.6577	10	0.56958	D	0.05	.	16.3609	0.83267	0.0:0.0:1.0:0.0	.	1036;1523;1524;1523	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	N	1523;1523;1524	ENSP00000441229:D1523N;ENSP00000334563:D1523N;ENSP00000386096:D1524N	ENSP00000334563:D1523N	D	+	1	0	MYO18B	24621146	1.000000	0.71417	0.945000	0.38365	0.315000	0.28087	5.788000	0.69020	2.471000	0.83476	0.563000	0.77884	GAC		0.547	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26291146	G	A	26291146	3	1	383	1	0	0	0	0	1	0	0	0	10066	1058	37	1	4673	1	MYO18B	22	26291146	Missense_Mutation	SNP	G	TCGA-36-2530-01A-01D-1526-09		26291146	25013420	70	20864											
CACNA1F	778	genome.wustl.edu	37	X	49066098	49066098	+	Silent	SNP	G	G	A	rs368972015		TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chrX:49066098G>A	ENST00000376265.2	-	41	4906	c.4845C>T	c.(4843-4845)tcC>tcT	p.S1615S	CACNA1F_ENST00000376251.1_Silent_p.S1550S|CACNA1F_ENST00000323022.5_Silent_p.S1604S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1615					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGAAGGGCGGAAGAGGTGC	0.557																																																0			X						G		1,3833		0,1,1631,570	64	46	52		4845	2.8	1	X		52	0,6728		0,0,2428,1872	no	coding-synonymous	CACNA1F	NM_005183.2		0,1,4059,2442	AA,AG,GG,G		0.0,0.0261,0.0095		1615/1978	49066098	1,10561	2202	4300	6502	48953042	SO:0001819	synonymous_variant	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4845C>T	X.37:g.49066098G>A			48953042	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	CCDS35253.1																																																																																				0.557	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		A	49066098	G	A	49066098	2	1	383	1	0	0	0	0	0	0	0	1	2543	1103	39	1		1	CACNA1F	23	49066098	Silent	SNP	G	TCGA-36-2530-01A-01D-1526-09		49066098	106204462	71	20865											
PLXNB3	5365	genome.wustl.edu	37	X	153033787	153033787	+	Silent	SNP	G	G	A			TCGA-36-2530-01A-01D-1526-09	TCGA-36-2530-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	990deb59-4f7f-422d-b470-b116edd32d33	4e3f49a5-cb83-4014-8840-ce71b8427e09	g.chrX:153033787G>A	ENST00000361971.5	+	4	1284	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Silent_p.L43L|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.L413L|PLXNB3_ENST00000538282.1_Silent_p.L43L	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	390	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCCTCTGCTGAAGCTCG	0.667																																																0			X											27	31	29					X																	153033787		2199	4291	6490	152686981	SO:0001819	synonymous_variant	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1170G>A	X.37:g.153033787G>A			152686981	B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	CCDS14729.1																																																																																				0.667	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			A	153033787	G	A	153033787	2	1	383	1	0	0	0	0	0	0	0	1	12125	1306	46	2		2	PLXNB3	23	153033787	Silent	SNP	G	TCGA-36-2530-01A-01D-1526-09	103967689	153033787	2236773	72	20866											
PIK3CD	5293	genome.wustl.edu	37	1	9782090	9782090	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr1:9782090A>G	ENST00000377346.4	+	17	2308	c.2113A>G	c.(2113-2115)Aag>Gag	p.K705E	PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000361110.2_Missense_Mutation_p.K729E|PIK3CD_ENST00000536656.1_Missense_Mutation_p.K729E	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	705					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GAGCTCTCAGAAGACCCCCAA	0.637											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											71	79	76					1																	9782090		2203	4299	6502	9704677	SO:0001583	missense	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2113A>G	1.37:g.9782090A>G	ENSP00000366563:p.Lys705Glu	659	9704677	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694312	0.48202	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.81415	-1.49;-1.49;-1.49	5.4	4.25	0.50352	Protein kinase-like domain (1);	0.295705	0.30959	N	0.008526	D	0.84511	0.5488	L	0.42744	1.35	0.80722	D	1	D;D;D	0.89917	1.0;0.979;0.999	D;P;D	0.91635	0.999;0.669;0.947	T	0.82748	-0.0304	10	0.40728	T	0.16	-28.8679	11.8329	0.52305	0.8534:0.1466:0.0:0.0	.	704;729;705	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	E	729;705;729;729	ENSP00000446444:K729E;ENSP00000366563:K705E;ENSP00000354410:K729E	ENSP00000353766:K729E	K	+	1	0	PIK3CD	9704677	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	7.340000	0.79292	0.868000	0.35678	0.459000	0.35465	AAG		0.637	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		G	9782090	A	G	9782090	3	3	384	1	0	0	0	0	1	0	0	0	11915	247	9	4	2171	4	PIK3CD	1	9782090	Missense_Mutation	SNP	A	TCGA-36-2532-01A-01D-1526-09		9782090	239468531	1	20867											
SDC3	9672	genome.wustl.edu	37	1	31346169	31346169	+	Silent	SNP	C	C	A	rs144697438		TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr1:31346169C>A	ENST00000339394.6	-	5	1392	c.1218G>T	c.(1216-1218)ctG>ctT	p.L406L	SDC3_ENST00000336798.7_Silent_p.L348L	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	406					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GATAGATGAGCAGTGTGACCA	0.572																																																0			1											110	97	102					1																	31346169		2203	4300	6503	31118756	SO:0001819	synonymous_variant	9672			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.1218G>T	1.37:g.31346169C>A			31118756	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Silent	SNP	ENST00000339394.6	37	CCDS30661.1																																																																																				0.572	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		A	31346169	C	A	31346169	2	1	384	1	0	0	0	0	0	0	0	1	13956	697	25	3		3	SDC3	1	31346169	Silent	SNP	C	TCGA-36-2532-01A-01D-1526-09	21564079	31346169	217904452	2	20868											
EIF2C3	192669	genome.wustl.edu	37	1	36479559	36479559	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr1:36479559G>A	ENST00000373191.4	+	11	1665	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	AGO3_ENST00000246314.6_Missense_Mutation_p.R205Q|RP4-665N4.8_ENST00000466576.2_RNA|RP4-665N4.8_ENST00000479395.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	439					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.R439Q(1)									TGGGACATGCGAGGGAAACAA	0.408																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	1											142	131	135					1																	36479559		2203	4300	6503	36252146	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1316G>A	1.37:g.36479559G>A	ENSP00000362287:p.Arg439Gln		36252146	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705690	0.89018	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05786	3.39;3.39	5.65	5.65	0.86999	.	0.054730	0.64402	D	0.000001	T	0.19208	0.0461	M	0.90425	3.115	0.80722	D	1	B	0.29253	0.239	B	0.35859	0.212	T	0.06698	-1.0812	10	0.23891	T	0.37	-6.6058	19.7916	0.96461	0.0:0.0:1.0:0.0	.	439	Q9H9G7	AGO3_HUMAN	Q	439;205	ENSP00000362287:R439Q;ENSP00000246314:R205Q	ENSP00000246314:R205Q	R	+	2	0	EIF2C3	36252146	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.858000	0.99539	2.685000	0.91497	0.650000	0.86243	CGA		0.408	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		A	36479559	G	A	36479559	3	1	384	1	0	0	0	0	1	0	0	0	5007	1058	37	1	1358	1	EIF2C3	1	36479559	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09	5133390	36479559	212771062	3	20869											
IPO9	55705	genome.wustl.edu	37	1	201798345	201798345	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr1:201798345C>T	ENST00000361565.4	+	1	77	c.8C>T	c.(7-9)gCg>gTg	p.A3V	IPO9-AS1_ENST00000413035.1_RNA|IPO9_ENST00000464348.1_3'UTR|IPO9-AS1_ENST00000421159.1_RNA|IPO9-AS1_ENST00000421449.1_RNA	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	3					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AAGATGGCGGCGGCGGCGGCA	0.711																																																0			1											4	7	6					1																	201798345		1859	3746	5605	200064968	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.8C>T	1.37:g.201798345C>T	ENSP00000354742:p.Ala3Val		200064968	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873567	0.91664	.	.	ENSG00000198700	ENST00000361565	.	.	.	4.31	4.31	0.51392	.	0.138458	0.48767	D	0.000167	T	0.22820	0.0551	N	0.08118	0	0.45161	D	0.998171	P	0.47302	0.893	B	0.32211	0.142	T	0.10730	-1.0617	9	0.30078	T	0.28	-11.4358	14.6597	0.68861	0.0:1.0:0.0:0.0	.	3	Q96P70	IPO9_HUMAN	V	3	.	ENSP00000354742:A3V	A	+	2	0	IPO9	200064968	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	4.347000	0.59373	2.387000	0.81309	0.561000	0.74099	GCG		0.711	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		T	201798345	C	T	201798345	3	4	384	1	0	0	0	0	1	0	0	0	7799	768	27	1	10	1	IPO9	1	201798345	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09	165318786	201798345	47452276	4	20870											
GCC2	9648	genome.wustl.edu	37	2	109098183	109098183	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr2:109098183G>C	ENST00000309863.6	+	10	3805	c.3091G>C	c.(3091-3093)Gag>Cag	p.E1031Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1031					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGCAGTCAGAGCAACTGGA	0.313																																																0			2											47	53	51					2																	109098183		2203	4298	6501	108464615	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3091G>C	2.37:g.109098183G>C	ENSP00000307939:p.Glu1031Gln		108464615	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822714	0.32237	.	.	ENSG00000135968	ENST00000309863	T	0.36699	1.24	5.4	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.55862	0.1947	M	0.65975	2.015	0.41165	D	0.986127	D	0.76494	0.999	D	0.70716	0.97	T	0.55224	-0.8174	10	0.45353	T	0.12	.	14.2917	0.66284	0.0:0.1481:0.8519:0.0	.	1031	Q8IWJ2	GCC2_HUMAN	Q	1031	ENSP00000307939:E1031Q	ENSP00000307939:E1031Q	E	+	1	0	GCC2	108464615	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	5.812000	0.69194	2.681000	0.91329	0.650000	0.86243	GAG		0.313	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		C	109098183	G	C	109098183	3	2	384	1	0	0	0	0	1	0	0	0	6286	943	33	3	3129	3	GCC2	2	109098183	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09		109098183	134101190	5	20871											
DLX2	1746	genome.wustl.edu	37	2	172965648	172965648	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr2:172965648G>A	ENST00000234198.4	-	3	971	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	DLX2_ENST00000466293.2_3'UTR|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	204					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACTTGGACCGGCGGTTCTGG	0.542																																					GBM(188;775 2993 11256 23072)											0			2											37	38	38					2																	172965648		2141	4151	6292	172673894	SO:0001583	missense	1746			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.610C>T	2.37:g.172965648G>A	ENSP00000234198:p.Arg204Trp		172673894	B4DMK4|B7ZA14	Missense_Mutation	SNP	ENST00000234198.4	37	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	g	25.5	4.648960	0.87958	.	.	ENSG00000115844	ENST00000234198	D	0.99167	-5.51	4.8	4.8	0.61643	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98221	1.0478	10	0.87932	D	0	-15.7063	13.3491	0.60591	0.0:0.0:0.8413:0.1587	.	204	Q07687	DLX2_HUMAN	W	204	ENSP00000234198:R204W	ENSP00000234198:R204W	R	-	1	2	DLX2	172673894	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.497000	0.60367	2.196000	0.70406	0.457000	0.33378	CGG		0.542	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			A	172965648	G	A	172965648	3	1	384	1	0	0	0	0	1	0	0	0	4571	1115	39	1	380	1	DLX2	2	172965648	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09	63867465	172965648	70233725	6	20872											
CACNA1D	776	genome.wustl.edu	37	3	53779712	53779712	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr3:53779712C>G	ENST00000350061.5	+	24	3579	c.3068C>G	c.(3067-3069)aCc>aGc	p.T1023S	CACNA1D_ENST00000288139.4_Missense_Mutation_p.T1043S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.T1023S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1023					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCGTCACCACCCTCCTGCAG	0.537																																																0			3											175	144	154					3																	53779712		2203	4300	6503	53754752	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3068C>G	3.37:g.53779712C>G	ENSP00000288133:p.Thr1023Ser		53754752	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593839	0.66219	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	L	0.37507	1.11	0.80722	D	1	P;P;P;P	0.51351	0.944;0.62;0.767;0.83	D;B;B;P	0.64237	0.923;0.304;0.444;0.674	D	0.97282	0.9918	10	0.48119	T	0.1	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	1023;716;1023;1043	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	S	1023;1043;1023;716	ENSP00000288133:T1023S;ENSP00000288139:T1043S;ENSP00000409174:T1023S;ENSP00000418014:T716S	ENSP00000288139:T1043S	T	+	2	0	CACNA1D	53754752	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.808000	0.96608	0.655000	0.94253	ACC		0.537	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		G	53779712	C	G	53779712	3	3	384	1	0	0	0	0	1	0	0	0	2541	507	18	3	3334	3	CACNA1D	3	53779712	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09		53779712	144242718	7	20873											
ALG1L	200810	genome.wustl.edu	37	3	125649450	125649450	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr3:125649450C>G	ENST00000340333.3	-	5	461	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	100							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CCATTTTCTTCATGTTTCACC	0.597																																																0			3											54	57	56					3																	125649450		1370	2315	3685	127132140	SO:0001583	missense	200810			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	33721	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"		"asparagine-linked glycosylation 1-like"				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.298G>C	3.37:g.125649450C>G	ENSP00000340009:p.Glu100Gln		127132140	D3DNA5	Missense_Mutation	SNP	ENST00000340333.3	37	CCDS33840.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.972642	0.53614	.	.	ENSG00000189366	ENST00000340333	D	0.84660	-1.88	2.11	2.11	0.27256	.	0.342911	0.33057	N	0.005330	D	0.88592	0.6478	M	0.75447	2.3	0.32598	N	0.526301	D	0.53619	0.961	P	0.58577	0.841	D	0.89058	0.3460	10	0.46703	T	0.11	-4.8454	9.9027	0.41357	0.0:1.0:0.0:0.0	.	100	Q6GMV1	ALG1L_HUMAN	Q	100	ENSP00000340009:E100Q	ENSP00000340009:E100Q	E	-	1	0	ALG1L	127132140	1.000000	0.71417	0.958000	0.39756	0.102000	0.19082	4.609000	0.61148	1.182000	0.42928	0.162000	0.16502	GAA		0.597	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		G	125649450	C	G	125649450	3	3	384	1	0	0	0	0	1	0	0	0	517	835	29	3	273	3	ALG1L	3	125649450	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09	71869738	125649450	72372980	8	20874											
C3orf27	23434	genome.wustl.edu	37	3	128292556	128292556	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr3:128292556T>A	ENST00000356020.2	-	3	983	c.17A>T	c.(16-18)cAt>cTt	p.H6L		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	6										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		CACTATCTGATGGAGCGCTTC	0.532																																																0			3											25	25	25					3																	128292556		2203	4300	6503	129775246	SO:0001583	missense	23434			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.17A>T	3.37:g.128292556T>A	ENSP00000348302:p.His6Leu		129775246		Missense_Mutation	SNP	ENST00000356020.2	37	CCDS3050.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669410	0.47677	.	.	ENSG00000198685	ENST00000356020	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	T	0.44603	0.1301	N	0.08118	0	0.31808	N	0.627492	D	0.89917	1.0	D	0.87578	0.998	T	0.57254	-0.7843	8	0.87932	D	0	.	13.4717	0.61285	0.0:0.0:0.0:1.0	.	6	O15544	GR6_HUMAN	L	6	.	ENSP00000348302:H6L	H	-	2	0	C3orf27	129775246	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.329000	0.65892	1.574000	0.49760	0.402000	0.26972	CAT		0.532	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356924.1	NM_007354		A	128292556	T	A	128292556	3	1	384	1	0	0	0	0	1	0	0	0	2219	1464	51	5	436	5	C3orf27	3	128292556	Missense_Mutation	SNP	T	TCGA-36-2532-01A-01D-1526-09	2643106	128292556	69729874	9	20875											
ATP11B	23200	genome.wustl.edu	37	3	182575809	182575809	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr3:182575809G>C	ENST00000323116.5	+	11	1255	c.995G>C	c.(994-996)aGc>aCc	p.S332T		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	332					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAAAGAAATAGCAGTAAGGTA	0.378																																																0			3											83	78	80					3																	182575809		2203	4300	6503	184058503	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.995G>C	3.37:g.182575809G>C	ENSP00000321195:p.Ser332Thr		184058503	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.52|12.52	1.963836|1.963836	0.34659|0.34659	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|T	.|0.63255	.|-0.03	5.48|5.48	5.48|5.48	0.80851|0.80851	.|ATPase, P-type, ATPase-associated domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47002|0.47002	0.1422|0.1422	N|N	0.11284|0.11284	0.12|0.12	0.80722|0.80722	D|D	1|1	.|B	.|0.22541	.|0.071	.|B	.|0.30401	.|0.115	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.11485	.|T	.|0.65	.|.	19.3533|19.3533	0.94401|0.94401	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|332	.|Q9Y2G3	.|AT11B_HUMAN	P|T	133|332	.|ENSP00000321195:S332T	.|ENSP00000321195:S332T	A|S	+|+	1|2	0|0	ATP11B|ATP11B	184058503|184058503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.457000|7.457000	0.80775|0.80775	2.588000|2.588000	0.87417|0.87417	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.378	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		C	182575809	G	C	182575809	3	2	384	1	0	0	0	0	1	0	0	0	1120	971	34	3	1037	3	ATP11B	3	182575809	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09	54283253	182575809	15446621	10	20876											
RXFP3	51289	genome.wustl.edu	37	5	33937765	33937765	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr5:33937765C>T	ENST00000330120.3	+	1	1275	c.920C>T	c.(919-921)gCg>gTg	p.A307V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	307					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGAGGGGCCGCGGTAGCCGGA	0.652																																																0			5											22	19	20					5																	33937765		2194	4296	6490	33973522	SO:0001583	missense	51289			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.920C>T	5.37:g.33937765C>T	ENSP00000328708:p.Ala307Val		33973522	Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	2.946	-0.217756	0.06101	.	.	ENSG00000182631	ENST00000330120	T	0.71103	-0.54	5.66	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	1.351940	0.05441	N	0.547674	T	0.65186	0.2667	M	0.64170	1.965	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46275	-0.9203	10	0.30078	T	0.28	0.5471	5.298	0.15762	0.0:0.4834:0.2742:0.2424	.	307	Q9NSD7	RL3R1_HUMAN	V	307	ENSP00000328708:A307V	ENSP00000328708:A307V	A	+	2	0	RXFP3	33973522	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.478000	0.22212	0.646000	0.30693	0.655000	0.94253	GCG		0.652	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		T	33937765	C	T	33937765	3	4	384	1	0	0	0	0	1	0	0	0	13764	768	27	1	922	1	RXFP3	5	33937765	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09		33937765	146977495	11	20877											
NRG2	9542	genome.wustl.edu	37	5	139232565	139232565	+	Missense_Mutation	SNP	G	G	A	rs199663558		TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr5:139232565G>A	ENST00000361474.1	-	7	1564	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L	CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000289409.4_Missense_Mutation_p.P441L|NRG2_ENST00000541337.1_Missense_Mutation_p.P381L|NRG2_ENST00000340391.3_Missense_Mutation_p.P244L|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000545385.1_Missense_Mutation_p.P449L|NRG2_ENST00000289422.7_Missense_Mutation_p.P455L|NRG2_ENST00000358522.3_Missense_Mutation_p.P449L	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	447					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGGGCCGGGCACATGTT	0.632													G|||	1	0.000199681	0	0	5008	,	,		19993	0.001		0	False		,,,				2504	0															0			5						G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	87	87	87		1142,1340,1322,1364,1346	5.2	1	5		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NRG2	NM_001184935.1,NM_004883.2,NM_013981.3,NM_013982.2,NM_013983.2	98,98,98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	381/785,447/851,441/845,455/859,449/853	139232565	1,13005	2203	4300	6503	139212749	SO:0001583	missense	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1340C>T	5.37:g.139232565G>A	ENSP00000354910:p.Pro447Leu		139212749		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.69	3.874005	0.72180	0.0	1.16E-4	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.19	5.19	0.71726	Neuregulin 1-related, C-terminal (1);	0.251877	0.32120	N	0.006544	T	0.53417	0.1795	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.52061	0.938;0.95;0.892;0.938	B;P;B;B	0.47206	0.405;0.541;0.405;0.405	T	0.52881	-0.8516	10	0.36615	T	0.2	-10.1262	13.5187	0.61555	0.0:0.0:0.8448:0.1552	.	441;447;449;455	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	L	381;455;447;455;449;244;441;449	ENSP00000444235:P381L;ENSP00000289422:P455L;ENSP00000354910:P447L;ENSP00000438753:P449L;ENSP00000342660:P244L;ENSP00000289409:P441L;ENSP00000351323:P449L	ENSP00000289409:P441L	P	-	2	0	NRG2	139212749	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	4.322000	0.59215	2.416000	0.81992	0.467000	0.42956	CCG		0.632	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		A	139232565	G	A	139232565	3	1	384	1	0	0	0	0	1	0	0	0	10648	1116	39	1	1228	1	NRG2	5	139232565	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09	105294800	139232565	41682695	12	20878											
PCDHB3	56132	genome.wustl.edu	37	5	140482498	140482498	+	Silent	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr5:140482498G>A	ENST00000231130.2	+	1	2265	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	755					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGTGTCTGACTGGAGGCT	0.597																																																0			5											41	42	41					5																	140482498		2191	4275	6466	140462682	SO:0001819	synonymous_variant	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2265G>A	5.37:g.140482498G>A			140462682	B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.597	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		A	140482498	G	A	140482498	2	1	384	1	0	0	0	0	0	0	0	1	11543	1277	45	2		2	PCDHB3	5	140482498	Silent	SNP	G	TCGA-36-2532-01A-01D-1526-09	1249933	140482498	40432762	13	20879											
ZNF165	7718	genome.wustl.edu	37	6	28057043	28057043	+	Missense_Mutation	SNP	A	A	G	rs547337001		TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr6:28057043A>G	ENST00000377325.1	+	4	1809	c.1253A>G	c.(1252-1254)cAt>cGt	p.H418R	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	418					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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTATCAGGCATCAGAGAATT	0.443													A|||	1	0.000199681	0	0	5008	,	,		19028	0		0	False		,,,				2504	0.001															0			6											54	57	56					6																	28057043		2203	4300	6503	28165022	SO:0001583	missense	7718			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1253A>G	6.37:g.28057043A>G	ENSP00000366542:p.His418Arg		28165022		Missense_Mutation	SNP	ENST00000377325.1	37	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858750	0.71834	.	.	ENSG00000197279	ENST00000377325	D	0.86865	-2.18	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93592	0.7954	H	0.95224	3.64	0.40778	D	0.98314	D	0.89917	1.0	D	0.91635	0.999	D	0.93980	0.7257	9	0.87932	D	0	.	10.0209	0.42041	1.0:0.0:0.0:0.0	.	418	P49910	ZN165_HUMAN	R	418	ENSP00000366542:H418R	ENSP00000366542:H418R	H	+	2	0	ZNF165	28165022	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	5.817000	0.69229	1.268000	0.44264	0.477000	0.44152	CAT		0.443	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		G	28057043	A	G	28057043	3	3	384	1	0	0	0	0	1	0	0	0	17740	217	8	4	1263	4	ZNF165	6	28057043	Missense_Mutation	SNP	A	TCGA-36-2532-01A-01D-1526-09		28057043	143058024	14	20880											
LRFN2	57497	genome.wustl.edu	37	6	40360135	40360135	+	Silent	SNP	G	G	T			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr6:40360135G>T	ENST00000338305.6	-	3	2459	c.1917C>A	c.(1915-1917)ccC>ccA	p.P639P		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	639						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGATCCTCCAGGGGGCCCGTC	0.706																																																0			6											4	6	5					6																	40360135		2075	4121	6196	40468113	SO:0001819	synonymous_variant	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1917C>A	6.37:g.40360135G>T			40468113	A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	CCDS34443.1																																																																																				0.706	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40360135	G	T	40360135	2	4	384	1	0	0	0	0	0	0	0	1	8938	987	35	3		3	LRFN2	6	40360135	Silent	SNP	G	TCGA-36-2532-01A-01D-1526-09	12303092	40360135	130754932	15	20881											
TMEM60	85025	genome.wustl.edu	37	7	77423646	77423646	+	Silent	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr7:77423646G>A	ENST00000257663.3	-	2	421	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	15						integral component of membrane (GO:0016021)		p.F15L(1)		endometrium(1)|large_intestine(1)|lung(2)	4						AGAGTAGTGTGAAAAGCCAGG	0.403																																																1	Substitution - Missense(1)	lung(1)	7											72	72	72					7																	77423646		2203	4300	6503	77261582	SO:0001819	synonymous_variant	85025			AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 35"	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.45C>T	7.37:g.77423646G>A			77261582	A4D1C3|Q86UM0	Silent	SNP	ENST00000257663.3	37	CCDS5593.1																																																																																				0.403	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		A	77423646	G	A	77423646	2	1	384	1	0	0	0	0	0	0	0	1	16187	1281	45	2		2	TMEM60	7	77423646	Silent	SNP	G	TCGA-36-2532-01A-01D-1526-09		77423646	81715017	16	20882											
MUC17	140453	genome.wustl.edu	37	7	100686898	100686898	+	Silent	SNP	T	T	G			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr7:100686898T>G	ENST00000306151.4	+	3	12265	c.12201T>G	c.(12199-12201)ccT>ccG	p.P4067P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4067					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACATTTCCTCCTGCTCACT	0.547																																																0			7											333	264	287					7																	100686898		2203	4300	6503	100473618	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12201T>G	7.37:g.100686898T>G			100473618	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.547	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100686898	T	G	100686898	2	3	384	1	0	0	0	0	0	0	0	1	9974	1538	54	5		5	MUC17	7	100686898	Silent	SNP	T	TCGA-36-2532-01A-01D-1526-09	23263252	100686898	58451765	17	20883											
TUSC3	7991	genome.wustl.edu	37	8	15397958	15397958	+	Missense_Mutation	SNP	C	C	A	rs201741917	byFrequency	TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr8:15397958C>A	ENST00000503731.1	+	1	167	c.19C>A	c.(19-21)Cct>Act	p.P7T	TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000382020.4_Missense_Mutation_p.P7T|TUSC3_ENST00000506802.1_Missense_Mutation_p.P7T|TUSC3_ENST00000509380.1_Missense_Mutation_p.P7T	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	7					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CCGGGGCGCTCCTTCACGCCG	0.736																																																0			8											13	14	14					8																	15397958		2173	4277	6450	15442329	SO:0001583	missense	7991			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.19C>A	8.37:g.15397958C>A	ENSP00000424544:p.Pro7Thr		15442329	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738101	0.69304	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.47869	0.86;0.83;0.84;0.85	4.3	4.3	0.51218	.	0.160248	0.29948	N	0.010799	T	0.21962	0.0529	N	0.08118	0	0.30028	N	0.813769	B;B;P;B;B;P	0.43477	0.334;0.334;0.463;0.334;0.334;0.808	B;B;B;B;B;B	0.26202	0.01;0.01;0.023;0.01;0.01;0.067	T	0.29119	-1.0022	10	0.66056	D	0.02	-7.5642	12.5676	0.56318	0.0:1.0:0.0:0.0	.	7;7;7;7;7;7	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	T	7	ENSP00000371450:P7T;ENSP00000425777:P7T;ENSP00000423426:P7T;ENSP00000424544:P7T	ENSP00000221167:P7T	P	+	1	0	TUSC3	15442329	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.969000	0.49232	2.687000	0.91594	0.563000	0.77884	CCT		0.736	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		A	15397958	C	A	15397958	3	1	384	1	0	0	0	0	1	0	0	0	16778	855	30	3	21	3	TUSC3	8	15397958	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09		15397958	130966064	18	20884											
EPHX2	2053	genome.wustl.edu	37	8	27369416	27369416	+	Missense_Mutation	SNP	G	G	A	rs574326427	byFrequency	TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr8:27369416G>A	ENST00000521400.1	+	6	1154	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000518379.1_Missense_Mutation_p.V242M|EPHX2_ENST00000380476.3_Missense_Mutation_p.V189M|EPHX2_ENST00000521780.1_Missense_Mutation_p.V176M	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	242	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CCATGGGTACGTGACAGTAAA	0.532													G|||	3	0.000599042	0.0023	0	5008	,	,		19357	0		0	False		,,,				2504	0															0			8											226	197	207					8																	27369416		2203	4300	6503	27425333	SO:0001583	missense	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.724G>A	8.37:g.27369416G>A	ENSP00000430269:p.Val242Met		27425333	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672683	0.67928	.	.	ENSG00000120915	ENST00000521400;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T	0.05382	3.51;3.51;3.51;3.45	4.76	4.76	0.60689	.	0.112922	0.64402	D	0.000012	T	0.21674	0.0522	M	0.66297	2.02	0.47308	D	0.999384	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.981;0.952;0.961	T	0.00123	-1.2025	10	0.87932	D	0	-6.608	13.1479	0.59472	0.0:0.0:1.0:0.0	.	242;242;242	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	M	242;176;189;246;242	ENSP00000430269:V242M;ENSP00000430302:V176M;ENSP00000369843:V189M;ENSP00000427956:V242M	ENSP00000369843:V189M	V	+	1	0	EPHX2	27425333	1.000000	0.71417	0.315000	0.25238	0.129000	0.20672	4.929000	0.63455	2.480000	0.83734	0.561000	0.74099	GTG		0.532	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			A	27369416	G	A	27369416	3	1	384	1	0	0	0	0	1	0	0	0	5180	1145	40	1	746	1	EPHX2	8	27369416	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09	11971458	27369416	118994606	19	20885											
GPR172A	79581	genome.wustl.edu	37	8	145583350	145583350	+	Silent	SNP	C	C	T			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr8:145583350C>T	ENST00000532887.1	+	3	781	c.198C>T	c.(196-198)acC>acT	p.T66T	FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000530047.1_Silent_p.T66T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_5'UTR|SLC52A2_ENST00000527078.1_Silent_p.T66T|SLC52A2_ENST00000402965.1_Silent_p.T66T|SLC52A2_ENST00000526891.1_3'UTR|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000329994.2_Silent_p.T66T|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	66					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TGGTGGTGACCCTCTGGAGGA	0.657																																																0			8											132	125	128					8																	145583350		2203	4300	6503	145554158	SO:0001819	synonymous_variant	79581			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.198C>T	8.37:g.145583350C>T			145554158	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	CCDS6423.1																																																																																				0.657	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		T	145583350	C	T	145583350	2	4	384	1	0	0	0	0	0	0	0	1	6669	610	22	2		2	GPR172A	8	145583350	Silent	SNP	C	TCGA-36-2532-01A-01D-1526-09	118213934	145583350	780672	20	20886			1	16		5	5	706	C		3.796258e-14
GPR172A	79581	genome.wustl.edu	37	8	145583713	145583713	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr8:145583713C>A	ENST00000532887.1	+	3	1144	c.561C>A	c.(559-561)ttC>ttA	p.F187L	FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.F187L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.F99L|SLC52A2_ENST00000527078.1_Missense_Mutation_p.F187L|SLC52A2_ENST00000402965.1_Missense_Mutation_p.F187L|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.F187L|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	187					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	CGCTCGACTTCCTTGAGCGTT	0.677																																																0			8											49	53	52					8																	145583713		2203	4298	6501	145554521	SO:0001583	missense	79581			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.561C>A	8.37:g.145583713C>A	ENSP00000436768:p.Phe187Leu		145554521	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.315934	0.01331	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.54	4.34	2.1	0.27182	.	0.071969	0.56097	D	0.000032	T	0.49695	0.1572	N	0.13198	0.31	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.20174	-1.0283	9	.	.	.	.	4.792	0.13254	0.0:0.5763:0.1857:0.238	.	187	Q9HAB3	RFT3_HUMAN	L	187;187;187;187;187;99	ENSP00000435820:F187L;ENSP00000434728:F187L;ENSP00000385961:F187L;ENSP00000436768:F187L;ENSP00000333638:F187L;ENSP00000440400:F99L	.	F	+	3	2	GPR172A	145554521	0.000000	0.05858	0.936000	0.37596	0.098000	0.18820	-0.554000	0.06006	0.815000	0.34398	0.462000	0.41574	TTC		0.677	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		A	145583713	C	A	145583713	3	1	384	1	0	0	0	0	1	0	0	0	6669	854	30	3	567	3	GPR172A	8	145583713	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09	363	145583713	780309	21	20887			1	16		5	5	706	C		3.796258e-14
GPR172A	79581	genome.wustl.edu	37	8	145583754	145583754	+	Missense_Mutation	SNP	C	C	G	rs552024614	byFrequency	TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr8:145583754C>G	ENST00000532887.1	+	3	1185	c.602C>G	c.(601-603)aCt>aGt	p.T201S	SLC52A2_ENST00000530047.1_Missense_Mutation_p.T201S|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.T113S|SLC52A2_ENST00000527078.1_Missense_Mutation_p.T201S|SLC52A2_ENST00000402965.1_Missense_Mutation_p.T201S|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.T201S|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	201					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TGGGCACTGACTGCCCTTCTG	0.652																																																0			8											60	61	61					8																	145583754		2203	4297	6500	145554562	SO:0001583	missense	79581			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.602C>G	8.37:g.145583754C>G	ENSP00000436768:p.Thr201Ser		145554562	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.805663	0.00606	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.54	4.49	3.53	0.40419	.	0.613542	0.17303	N	0.179189	T	0.48077	0.1480	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.19712	-1.0297	9	.	.	.	.	4.8584	0.13571	0.2133:0.6774:0.0:0.1093	.	201	Q9HAB3	RFT3_HUMAN	S	201;201;201;201;201;113	ENSP00000435820:T201S;ENSP00000434728:T201S;ENSP00000385961:T201S;ENSP00000436768:T201S;ENSP00000333638:T201S;ENSP00000440400:T113S	.	T	+	2	0	GPR172A	145554562	0.000000	0.05858	0.253000	0.24343	0.136000	0.21042	0.124000	0.15728	2.055000	0.61198	0.462000	0.41574	ACT		0.652	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		G	145583754	C	G	145583754	3	3	384	1	0	0	0	0	1	0	0	0	6669	565	20	3	608	3	GPR172A	8	145583754	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09	41	145583754	780268	22	20888			1	16		5	5	706	C		3.796258e-14
GPR172A	79581	genome.wustl.edu	37	8	145583844	145583844	+	Nonsense_Mutation	SNP	C	C	G			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr8:145583844C>G	ENST00000532887.1	+	3	1275	c.692C>G	c.(691-693)tCa>tGa	p.S231*	SLC52A2_ENST00000530047.1_Nonsense_Mutation_p.S231*|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Nonsense_Mutation_p.S143*|SLC52A2_ENST00000527078.1_Nonsense_Mutation_p.S231*|SLC52A2_ENST00000402965.1_Nonsense_Mutation_p.S231*|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000329994.2_Nonsense_Mutation_p.S231*|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	231					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GAGTTAGGATCAGGCCTCCAG	0.627																																																0			8											54	57	56					8																	145583844		2203	4299	6502	145554652	SO:0001587	stop_gained	79581			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.692C>G	8.37:g.145583844C>G	ENSP00000436768:p.Ser231*		145554652	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Nonsense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	C	36	5.916390	0.97099	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	.	.	.	4.49	2.59	0.31030	.	1.287600	0.05044	N	0.476908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.1158	0.48259	0.3249:0.6751:0.0:0.0	.	.	.	.	X	231;231;67;231;231;231;143	.	ENSP00000333638:S231X	S	+	2	0	GPR172A	145554652	0.000000	0.05858	0.001000	0.08648	0.214000	0.24535	0.511000	0.22739	0.295000	0.22570	0.462000	0.41574	TCA		0.627	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		G	145583844	C	G	145583844	4	3	384	1	0	0	0	0	0	1	0	0	6669	838	29	3	698	3	GPR172A	8	145583844	Nonsense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09	90	145583844	780178	23	20889			1	16		5	5	706	C		3.796258e-14
GPR172A	79581	genome.wustl.edu	37	8	145584055	145584055	+	Silent	SNP	C	C	T			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr8:145584055C>T	ENST00000532887.1	+	3	1486	c.903C>T	c.(901-903)tcC>tcT	p.S301S	SLC52A2_ENST00000530047.1_Silent_p.S301S|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Silent_p.S213S|SLC52A2_ENST00000527078.1_Silent_p.S301S|SLC52A2_ENST00000402965.1_Silent_p.S301S|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000329994.2_Silent_p.S301S|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	301					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	AGAGCTTTTCCTGCTTACCCT	0.647																																																0			8											79	72	74					8																	145584055		2203	4297	6500	145554863	SO:0001819	synonymous_variant	79581			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.903C>T	8.37:g.145584055C>T			145554863	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	CCDS6423.1																																																																																				0.647	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		T	145584055	C	T	145584055	2	4	384	1	0	0	0	0	0	0	0	1	6669	668	24	2		2	GPR172A	8	145584055	Silent	SNP	C	TCGA-36-2532-01A-01D-1526-09	211	145584055	779967	24	20890			1	16		5	5	706	C		3.796258e-14
KIAA1797	54914	genome.wustl.edu	37	9	20912864	20912864	+	Splice_Site	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr9:20912864G>A	ENST00000380249.1	+	25	3082		c.e25-1		FOCAD_ENST00000605086.1_Splice_Site|FOCAD_ENST00000338382.6_Splice_Site	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin							focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GATTTTTGCAGGGAAGACTAG	0.408																																																0			9											95	92	93					9																	20912864		2203	4300	6503	20902864	SO:0001630	splice_region_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2719-1G>A	9.37:g.20912864G>A			20902864	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Splice_Site	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152900	0.78001	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8297	0.88677	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1797	20902864	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.171000	0.71926	2.826000	0.97356	0.655000	0.94253	.		0.408	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Intron	A	20912864	G	A	20912864	5	1	384	1	0	0	0	0	0	0	1	0	8258	1014	35	2	2804	2	KIAA1797	9	20912864	Splice_Site	SNP	G	TCGA-36-2532-01A-01D-1526-09		20912864	120300567	25	20891											
SEMA4D	10507	genome.wustl.edu	37	9	91995988	91995988	+	Missense_Mutation	SNP	C	C	T	rs150298124		TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr9:91995988C>T	ENST00000450295.1	-	15	2421	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	SEMA4D_ENST00000422704.2_Missense_Mutation_p.D549N|SEMA4D_ENST00000339861.4_Missense_Mutation_p.D549N|SEMA4D_ENST00000356444.2_Missense_Mutation_p.D549N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.D549N|SEMA4D_ENST00000420987.1_Missense_Mutation_p.D549N|SEMA4D_ENST00000455551.2_Missense_Mutation_p.D549N|SEMA4D_ENST00000343780.4_Missense_Mutation_p.D549N			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	549	PSI.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGAAGCATCGCCGCTCATC	0.572																																																0			9											157	135	142					9																	91995988		2203	4300	6503	91185808	SO:0001583	missense	10507			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1645G>A	9.37:g.91995988C>T	ENSP00000416523:p.Asp549Asn		91185808	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286006	0.40394	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.96	4.07	0.47477	.	0.245616	0.45361	D	0.000372	T	0.27489	0.0675	L	0.39397	1.21	0.09310	N	0.99999	D;P	0.64830	0.994;0.95	P;P	0.55391	0.775;0.706	T	0.08046	-1.0741	10	0.23891	T	0.37	.	12.3636	0.55217	0.0:0.9193:0.0:0.0807	.	549;549	Q92854-2;Q92854	.;SEM4D_HUMAN	N	549	ENSP00000344923:D549N;ENSP00000391733:D549N;ENSP00000411981:D549N;ENSP00000343418:D549N;ENSP00000416523:D549N;ENSP00000405102:D549N;ENSP00000348822:D549N;ENSP00000388768:D549N	ENSP00000344923:D549N	D	-	1	0	SEMA4D	91185808	0.978000	0.34361	0.061000	0.19648	0.161000	0.22273	2.983000	0.49345	1.307000	0.44944	0.561000	0.74099	GAT		0.572	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		T	91995988	C	T	91995988	3	4	384	1	0	0	0	0	1	0	0	0	14037	884	31	1	1521	1	SEMA4D	9	91995988	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09	71083124	91995988	49217443	26	20892											
KIAA1958	158405	genome.wustl.edu	37	9	115421709	115421709	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr9:115421709G>A	ENST00000337530.6	+	4	1807	c.1511G>A	c.(1510-1512)aGc>aAc	p.S504N	KIAA1958_ENST00000536272.1_Missense_Mutation_p.S532N	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	504										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGCACCTTCAGCTCCTCCACC	0.577																																																0			9											45	42	43					9																	115421709		2203	4300	6503	114461530	SO:0001583	missense	158405			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1511G>A	9.37:g.115421709G>A	ENSP00000336940:p.Ser504Asn		114461530	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	8.498	0.863645	0.17250	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.51	3.64	0.41730	.	.	.	.	.	T	0.14527	0.0351	N	0.03608	-0.345	0.19775	N	0.999952	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29761	-1.0001	8	0.16420	T	0.52	.	5.7779	0.18289	0.2246:0.1437:0.6318:0.0	.	532;504	B7ZKW6;Q8N8K9	.;K1958_HUMAN	N	504;532	.	ENSP00000336940:S504N	S	+	2	0	KIAA1958	114461530	0.667000	0.27484	0.979000	0.43373	0.998000	0.95712	0.865000	0.27940	0.675000	0.31264	0.655000	0.94253	AGC		0.577	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		A	115421709	G	A	115421709	3	1	384	1	0	0	0	0	1	0	0	0	8264	971	34	2	1521	2	KIAA1958	9	115421709	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09	23425721	115421709	25791722	27	20893											
PTGDS	5730	genome.wustl.edu	37	9	139872144	139872144	+	Splice_Site	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr9:139872144G>A	ENST00000371625.3	+	1	188	c.114G>A	c.(112-114)aaG>aaA	p.K38K	RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Splice_Site_p.K38K	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	38					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGCAGGACAAGGTGAGGGGCT	0.657																																																0			9											26	21	22					9																	139872144		2184	4293	6477	138991965	SO:0001630	splice_region_variant	5730			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"Lipocalins"	9592	protein-coding gene	gene with protein product	"lipocalin-type prostaglandin D synthase"	176803	"prostaglandin D2 synthase (21kD, brain)"			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.114+1G>A	9.37:g.139872144G>A			138991965	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Silent	SNP	ENST00000371625.3	37	CCDS7019.1																																																																																				0.657	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954	Silent	A	139872144	G	A	139872144	5	1	384	1	0	0	0	0	0	0	1	0	12745	1014	35	2	116	2	PTGDS	9	139872144	Splice_Site	SNP	G	TCGA-36-2532-01A-01D-1526-09	24450435	139872144	1341287	28	20894											
ANAPC2	29882	genome.wustl.edu	37	9	140081941	140081941	+	Silent	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr9:140081941G>A	ENST00000323927.2	-	2	736	c.732C>T	c.(730-732)agC>agT	p.S244S	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	244					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACAAGACCTGGCTGAGCTGAT	0.622																																																0			9											81	71	74					9																	140081941		2203	4300	6503	139201762	SO:0001819	synonymous_variant	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.732C>T	9.37:g.140081941G>A			139201762	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	CCDS7033.1																																																																																				0.622	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		A	140081941	G	A	140081941	2	1	384	1	0	0	0	0	0	0	0	1	603	1194	42	2		2	ANAPC2	9	140081941	Silent	SNP	G	TCGA-36-2532-01A-01D-1526-09	209797	140081941	1131490	29	20895											
ARMC3	219681	genome.wustl.edu	37	10	23292194	23292194	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr10:23292194G>A	ENST00000298032.5	+	13	1666	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	ARMC3_ENST00000409983.3_Missense_Mutation_p.E528K|ARMC3_ENST00000409049.3_Missense_Mutation_p.E528K|ARMC3_ENST00000376528.4_Missense_Mutation_p.E265K	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	528						extracellular vesicular exosome (GO:0070062)		p.E528*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TATCCTTGAAGAAGTTAACGT	0.363																																																1	Substitution - Nonsense(1)	large_intestine(1)	10											79	79	79					10																	23292194		2203	4300	6503	23332200	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1582G>A	10.37:g.23292194G>A	ENSP00000298032:p.Glu528Lys		23332200	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507289	0.85282	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.49720	1.01;1.0;0.99;0.77	5.53	5.53	0.82687	Armadillo-like helical (1);	0.117086	0.56097	D	0.000038	T	0.71702	0.3371	M	0.78049	2.395	0.54753	D	0.999986	P;D	0.89917	0.849;1.0	P;D	0.83275	0.61;0.996	T	0.74822	-0.3534	10	0.87932	D	0	-7.811	19.4481	0.94855	0.0:0.0:1.0:0.0	.	528;528	Q5W041-4;Q5W041	.;ARMC3_HUMAN	K	528;528;464;528;265	ENSP00000298032:E528K;ENSP00000386943:E528K;ENSP00000387288:E528K;ENSP00000365711:E265K	ENSP00000298032:E528K	E	+	1	0	ARMC3	23332200	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.155000	0.64900	2.590000	0.87494	0.563000	0.77884	GAA		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		A	23292194	G	A	23292194	3	1	384	1	0	0	0	0	1	0	0	0	952	943	33	2	1628	2	ARMC3	10	23292194	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09		23292194	112242553	30	20896											
ZNF438	220929	genome.wustl.edu	37	10	31134108	31134108	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr10:31134108A>G	ENST00000361310.3	-	7	2598	c.2269T>C	c.(2269-2271)Tgc>Cgc	p.C757R	ZNF438_ENST00000442986.1_Missense_Mutation_p.C757R|ZNF438_ENST00000331737.6_Missense_Mutation_p.C747R|ZNF438_ENST00000375311.1_Missense_Mutation_p.C321R|ZNF438_ENST00000538351.2_Missense_Mutation_p.C708R|ZNF438_ENST00000413025.1_Missense_Mutation_p.C757R|ZNF438_ENST00000452305.1_Missense_Mutation_p.C747R|ZNF438_ENST00000444692.2_Missense_Mutation_p.C747R|ZNF438_ENST00000436087.2_Missense_Mutation_p.C757R			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	757					negative regulation of transcription, DNA-templated (GO:0045892)|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)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGGCCCTGGCAGGTTTCCCTT	0.532																																																0			10											127	136	133					10																	31134108		2203	4300	6503	31174114	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2269T>C	10.37:g.31134108A>G	ENSP00000354663:p.Cys757Arg		31174114	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	A	2.547	-0.304844	0.05495	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.09817	2.99;3.0;3.0;3.0;3.0;2.99;2.99;3.0;2.94	5.31	2.27	0.28462	.	1.976250	0.01599	N	0.021947	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33292	-0.9874	10	0.22109	T	0.4	-2.2329	6.3873	0.21568	0.2239:0.0:0.6423:0.1339	.	757;747	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	R	747;757;757;757;757;747;747;708;476;321	ENSP00000333571:C747R;ENSP00000354663:C757R;ENSP00000406934:C757R;ENSP00000412363:C757R;ENSP00000387546:C757R;ENSP00000413060:C747R;ENSP00000410898:C747R;ENSP00000445461:C708R;ENSP00000364460:C321R	ENSP00000333571:C747R	C	-	1	0	ZNF438	31174114	0.004000	0.15560	0.001000	0.08648	0.008000	0.06430	1.506000	0.35747	0.294000	0.22547	-0.177000	0.13119	TGC		0.532	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31134108	A	G	31134108	3	3	384	1	0	0	0	0	1	0	0	0	17910	188	7	4	221	4	ZNF438	10	31134108	Missense_Mutation	SNP	A	TCGA-36-2532-01A-01D-1526-09	7841914	31134108	104400639	31	20897											
MBL2	4153	genome.wustl.edu	37	10	54527920	54527920	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr10:54527920C>T	ENST00000373968.3	-	4	788	c.724G>A	c.(724-726)Gcc>Acc	p.A242T		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	242	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCACAGACGGCCAGATGGGAG	0.483																																																0			10											234	214	221					10																	54527920		2202	4300	6502	54197926	SO:0001583	missense	4153			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.724G>A	10.37:g.54527920C>T	ENSP00000363079:p.Ala242Thr		54197926	Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970692	0.34754	.	.	ENSG00000165471	ENST00000373968	T	0.22539	1.95	5.03	2.78	0.32641	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.456559	0.20595	N	0.089278	T	0.20210	0.0486	L	0.39326	1.205	0.09310	N	1	B	0.29646	0.253	B	0.42827	0.399	T	0.22871	-1.0204	10	0.22706	T	0.39	-10.0581	5.1651	0.15081	0.0:0.6409:0.0:0.3591	.	242	P11226	MBL2_HUMAN	T	242	ENSP00000363079:A242T	ENSP00000363079:A242T	A	-	1	0	MBL2	54197926	0.001000	0.12720	0.013000	0.15412	0.011000	0.07611	0.936000	0.28938	1.246000	0.43901	0.591000	0.81541	GCC		0.483	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		T	54527920	C	T	54527920	3	4	384	1	0	0	0	0	1	0	0	0	9350	739	26	2	26	2	MBL2	10	54527920	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09	23393812	54527920	81006827	32	20898											
C10orf58	84293	genome.wustl.edu	37	10	82187242	82187242	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr10:82187242C>T	ENST00000372181.1	+	4	1036	c.566C>T	c.(565-567)tCa>tTa	p.S189L	FAM213A_ENST00000372188.1_Missense_Mutation_p.S189L|FAM213A_ENST00000372187.5_Missense_Mutation_p.S189L|FAM213A_ENST00000372185.1_Missense_Mutation_p.S178L	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	189					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										GTGGTGGGATCAGGAAAGCAG	0.527																																																0			10											110	90	96					10																	82187242		2203	4300	6503	82177222	SO:0001583	missense	84293			AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"		"chromosome 10 open reading frame 58"	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.566C>T	10.37:g.82187242C>T	ENSP00000361254:p.Ser189Leu		82177222	B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812462	0.50527	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.97	5.97	0.96955	.	0.792236	0.12298	N	0.481436	T	0.51381	0.1671	L	0.59436	1.845	0.38933	D	0.957977	P	0.36837	0.571	B	0.37198	0.243	T	0.55866	-0.8073	10	0.66056	D	0.02	-3.8503	17.9177	0.88957	0.0:1.0:0.0:0.0	.	189	Q9BRX8	PAMM_HUMAN	L	189;189;178;189	ENSP00000361262:S189L;ENSP00000361261:S189L;ENSP00000361259:S178L;ENSP00000361254:S189L	ENSP00000361254:S189L	S	+	2	0	C10orf58	82177222	0.926000	0.31397	0.969000	0.41365	0.730000	0.41778	3.130000	0.50508	2.828000	0.97474	0.655000	0.94253	TCA		0.527	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			T	82187242	C	T	82187242	3	4	384	1	0	0	0	0	1	0	0	0	1610	838	29	2	580	2	C10orf58	10	82187242	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09	27659322	82187242	53347505	33	20899											
PPRC1	23082	genome.wustl.edu	37	10	103899913	103899913	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr10:103899913G>C	ENST00000278070.2	+	5	1687	c.1648G>C	c.(1648-1650)Gct>Cct	p.A550P	PPRC1_ENST00000413464.2_Missense_Mutation_p.A550P|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AAGTAGTCCTGCTAAAGAAGG	0.552																																																0			10											76	79	78					10																	103899913		2203	4300	6503	103889903	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1648G>C	10.37:g.103899913G>C	ENSP00000278070:p.Ala550Pro		103889903	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638704	0.87760	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.57436	0.4;0.4	5.6	-0.891	0.10573	.	1.012530	0.07907	N	0.973662	T	0.37073	0.0990	L	0.29908	0.895	0.09310	N	1	B;B;B	0.15473	0.013;0.009;0.013	B;B;B	0.12156	0.007;0.007;0.007	T	0.32561	-0.9902	10	0.66056	D	0.02	.	4.8351	0.13460	0.3151:0.2709:0.414:0.0	.	550;430;550	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	P	550	ENSP00000278070:A550P;ENSP00000399743:A550P	ENSP00000278070:A550P	A	+	1	0	PPRC1	103889903	0.001000	0.12720	0.001000	0.08648	0.921000	0.55340	0.483000	0.22292	-0.348000	0.08286	0.455000	0.32223	GCT		0.552	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		C	103899913	G	C	103899913	3	2	384	1	0	0	0	0	1	0	0	0	12413	1319	46	3	1666	3	PPRC1	10	103899913	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09	21712671	103899913	31634834	34	20900											
ARHGEF17	9828	genome.wustl.edu	37	11	73021631	73021631	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr11:73021631G>A	ENST00000263674.3	+	1	2298	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	650					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGGCATTGGGGCAGACCCTGA	0.637																																																0			11											72	62	65					11																	73021631		2200	4293	6493	72699279	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1948G>A	11.37:g.73021631G>A	ENSP00000263674:p.Ala650Thr		72699279	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	2.315	-0.357057	0.05138	.	.	ENSG00000110237	ENST00000263674	T	0.50277	0.75	4.62	0.355	0.16069	.	0.245046	0.32401	N	0.006154	T	0.20901	0.0503	N	0.11560	0.145	0.27817	N	0.941945	B	0.06786	0.001	B	0.06405	0.002	T	0.18935	-1.0321	10	0.12430	T	0.62	-7.1076	6.6509	0.22961	0.598:0.0:0.402:0.0	.	650	Q96PE2	ARHGH_HUMAN	T	650	ENSP00000263674:A650T	ENSP00000263674:A650T	A	+	1	0	ARHGEF17	72699279	0.998000	0.40836	0.104000	0.21259	0.276000	0.26787	3.145000	0.50623	0.197000	0.20387	0.561000	0.74099	GCA		0.637	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		A	73021631	G	A	73021631	3	1	384	1	0	0	0	0	1	0	0	0	900	1203	42	2	1950	2	ARHGEF17	11	73021631	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09		73021631	61984885	35	20901											
STAB2	55576	genome.wustl.edu	37	12	104089393	104089393	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr12:104089393G>T	ENST00000388887.2	+	32	3645	c.3441G>T	c.(3439-3441)atG>atT	p.M1147I		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGGAACAGATGCCTGACTATT	0.507																																																0			12											142	138	140					12																	104089393		2203	4300	6503	102613523	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3441G>T	12.37:g.104089393G>T	ENSP00000373539:p.Met1147Ile		102613523		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572209	0.65765	.	.	ENSG00000136011	ENST00000388887	T	0.62639	0.01	6.17	5.29	0.74685	FAS1 domain (3);Growth factor, receptor (1);	0.135389	0.64402	D	0.000003	T	0.69691	0.3139	L	0.39898	1.24	0.39080	D	0.960892	D	0.63880	0.993	D	0.70227	0.968	T	0.67023	-0.5775	10	0.18276	T	0.48	.	15.5968	0.76590	0.0655:0.0:0.9345:0.0	.	1147	Q8WWQ8	STAB2_HUMAN	I	1147	ENSP00000373539:M1147I	ENSP00000373539:M1147I	M	+	3	0	STAB2	102613523	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.568000	0.82369	1.627000	0.50400	0.655000	0.94253	ATG		0.507	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104089393	G	T	104089393	3	4	384	1	0	0	0	0	1	0	0	0	15240	1319	46	3	3567	3	STAB2	12	104089393	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09		104089393	29762502	36	20902											
SPINT1	6692	genome.wustl.edu	37	15	41148489	41148489	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr15:41148489G>A	ENST00000344051.4	+	10	1586	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D	SPINT1_ENST00000562057.1_Missense_Mutation_p.G435D|SPINT1_ENST00000431806.1_Missense_Mutation_p.G435D			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	451					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GATGTGTTTGGCCTGAGGCGG	0.547																																																0			15											154	127	136					15																	41148489		2203	4300	6503	38935781	SO:0001583	missense	6692				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1352G>A	15.37:g.41148489G>A	ENSP00000342098:p.Gly451Asp		38935781	Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382965	0.61845	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95622	-3.74;-3.76	5.38	4.47	0.54385	.	0.439592	0.28908	N	0.013753	D	0.97056	0.9038	M	0.75447	2.3	0.41356	D	0.987398	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.91635	0.999;0.828;0.986	D	0.96753	0.9555	10	0.46703	T	0.11	-9.9339	11.8004	0.52124	0.0838:0.0:0.9162:0.0	.	435;435;451	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	D	451;418;435	ENSP00000342098:G451D;ENSP00000409935:G435D	ENSP00000342098:G451D	G	+	2	0	SPINT1	38935781	0.998000	0.40836	0.919000	0.36401	0.733000	0.41908	2.889000	0.48601	1.412000	0.46977	0.561000	0.74099	GGC		0.547	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		A	41148489	G	A	41148489	3	1	384	1	0	0	0	0	1	0	0	0	15070	1203	42	2	1386	2	SPINT1	15	41148489	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09		41148489	61382903	37	20903											
DHX38	9785	genome.wustl.edu	37	16	72137913	72137913	+	Silent	SNP	G	G	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr16:72137913G>A	ENST00000268482.3	+	14	2402	c.1893G>A	c.(1891-1893)ggG>ggA	p.G631G	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	631	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGACTGACGGGATCCTGCTCC	0.567																																					Melanoma(97;711 1442 7855 13832 28836)											0			16											124	111	115					16																	72137913		2198	4300	6498	70695414	SO:0001819	synonymous_variant	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1893G>A	16.37:g.72137913G>A			70695414	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	CCDS10907.1																																																																																				0.567	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		A	72137913	G	A	72137913	2	1	384	1	0	0	0	0	0	0	0	1	4511	1161	41	2		2	DHX38	16	72137913	Silent	SNP	G	TCGA-36-2532-01A-01D-1526-09		72137913	18216840	38	20904											
ENO3	2027	genome.wustl.edu	37	17	4857022	4857022	+	Missense_Mutation	SNP	A	A	G	rs143749502		TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr17:4857022A>G	ENST00000323997.6	+	6	458	c.326A>G	c.(325-327)aAt>aGt	p.N109S	ENO3_ENST00000518175.1_Missense_Mutation_p.N109S|ENO3_ENST00000519584.1_Missense_Mutation_p.N66S	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	109					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TTTGGGGCCAATGCCATCCTG	0.612																																																0			17						A	SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	121	116	117		197,326,326	5.6	1	17	dbSNP_134	117	0,8600		0,0,4300	no	missense,missense,missense	ENO3	NM_001193503.1,NM_001976.4,NM_053013.3	46,46,46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	66/392,109/435,109/435	4857022	1,13005	2203	4300	6503	4797768	SO:0001583	missense	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.326A>G	17.37:g.4857022A>G	ENSP00000324105:p.Asn109Ser		4797768	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952796	0.92660	2.27E-4	0.0	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000519584;ENST00000518175	T;T;T;T;T;T	0.59224	0.81;0.81;0.81;0.81;0.28;0.81	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	H	0.99689	4.705	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.71656	0.967;0.974;0.974	D	0.92003	0.5612	10	0.87932	D	0	-20.7403	13.9307	0.63994	1.0:0.0:0.0:0.0	.	66;16;109	P13929-3;D3DTL4;D3DTL2	.;.;.	S	109;109;109;109;66;109	ENSP00000428502:N109S;ENSP00000430055:N109S;ENSP00000324105:N109S;ENSP00000428811:N109S;ENSP00000430636:N66S;ENSP00000431087:N109S	ENSP00000324105:N109S	N	+	2	0	ENO3	4797768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.233000	0.73108	0.533000	0.62120	AAT		0.612	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			G	4857022	A	G	4857022	3	3	384	1	0	0	0	0	1	0	0	0	5123	101	4	4	344	4	ENO3	17	4857022	Missense_Mutation	SNP	A	TCGA-36-2532-01A-01D-1526-09		4857022	76338188	39	20905											
TP53	7157	genome.wustl.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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"	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM942135	TP53	M	rs148924904						53	54	53					17																	7578442		2203	4300	6503	7519167	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys		7519167	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	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578442	T	C	7578442	3	2	384	1	0	0	0	0	1	0	0	0	16381	1638	57	4	810	4	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-36-2532-01A-01D-1526-09	2721420	7578442	73616768	40	20906											
ZNF333	84449	genome.wustl.edu	37	19	14829218	14829218	+	Missense_Mutation	SNP	G	G	A	rs148150625	byFrequency	TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr19:14829218G>A	ENST00000292530.6	+	12	1170	c.1079G>A	c.(1078-1080)cGt>cAt	p.R360H	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.R251H	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GAGAAAATCCGTAGTGGGGAT	0.438													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		19174	0		0	False		,,,				2504	0				NSCLC(60;75 1281 16985 25154 29885)											0			19						G	HIS/ARG	36,4370	43.1+/-76.7	0,36,2167	84	85	85		1079	-6.5	0	19	dbSNP_134	85	0,8600		0,0,4300	yes	missense	ZNF333	NM_032433.2	29	0,36,6467	AA,AG,GG		0.0,0.8171,0.2768	benign	360/666	14829218	36,12970	2203	4300	6503	14690218	SO:0001583	missense	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1079G>A	19.37:g.14829218G>A	ENSP00000292530:p.Arg360His		14690218	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	3.671	-0.067575	0.07273	0.008171	0.0	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.06218	5.45;3.33	3.24	-6.47	0.01902	.	.	.	.	.	T	0.00724	0.0024	N	0.00082	-2.215	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	9	0.02654	T	1	.	11.5542	0.50737	0.7519:0.1113:0.1368:0.0	.	360	Q96JL9	ZN333_HUMAN	H	251;360	ENSP00000439749:R251H;ENSP00000292530:R360H	ENSP00000292530:R360H	R	+	2	0	ZNF333	14690218	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	0.540000	0.23191	-2.377000	0.00597	-0.966000	0.02617	CGT		0.438	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		A	14829218	G	A	14829218	3	1	384	1	0	0	0	0	1	0	0	0	17850	1145	40	1	1121	1	ZNF333	19	14829218	Missense_Mutation	SNP	G	TCGA-36-2532-01A-01D-1526-09		14829218	44299765	41	20907											
C20orf3	57136	genome.wustl.edu	37	20	24950955	24950955	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chr20:24950955C>A	ENST00000217456.2	-	6	881	c.591G>T	c.(589-591)atG>atT	p.M197I	APMAP_ENST00000447138.1_Missense_Mutation_p.M197I	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	197					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										TCACAAAGGACATGTTCTTCC	0.428																																																0			20											201	181	188					20																	24950955		2203	4300	6503	24898955	SO:0001583	missense	57136			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.591G>T	20.37:g.24950955C>A	ENSP00000217456:p.Met197Ile		24898955	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	CCDS13166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.716068|2.716068	0.48622|0.48622	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000451442|ENST00000217456;ENST00000447138	.|T;T	.|0.28255	.|1.62;1.62	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Six-bladed beta-propeller, TolB-like (1);	.|0.190357	.|0.56097	.|D	.|0.000030	T|T	0.21761|0.21761	0.0524|0.0524	N|N	0.20445|0.20445	0.575|0.575	0.58432|0.58432	D|D	0.999991|0.999991	.|B;B;B	.|0.19331	.|0.035;0.002;0.001	.|B;B;B	.|0.10450	.|0.005;0.004;0.002	T|T	0.05007|0.05007	-1.0912|-1.0912	5|10	.|0.20519	.|T	.|0.43	-20.0609|-20.0609	16.7821|16.7821	0.85565|0.85565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|197;181;197	.|Q9HDC9-2;A2A2F9;Q9HDC9	.|.;.;APMAP_HUMAN	F|I	182|197	.|ENSP00000217456:M197I;ENSP00000415373:M197I	.|ENSP00000217456:M197I	C|M	-|-	2|3	0|0	C20orf3|C20orf3	24898955|24898955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	4.842000|4.842000	0.62831|0.62831	2.555000|2.555000	0.86185|0.86185	0.655000|0.655000	0.94253|0.94253	TGT|ATG		0.428	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		A	24950955	C	A	24950955	3	1	384	1	0	0	0	0	1	0	0	0	2109	478	17	3	675	3	C20orf3	20	24950955	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09		24950955	38074565	42	20908											
ZCCHC16	340595	genome.wustl.edu	37	X	111698666	111698666	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2532-01A-01D-1526-09	TCGA-36-2532-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	63680058-ad96-4f00-9dcb-a3b40d325b05	ddf31ba0-e9f0-44c4-ad17-6ab67ef831ac	g.chrX:111698666C>T	ENST00000340433.2	+	1	940	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	237							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGTTGGCTTCCTTGATCCAA	0.532																																																0			X											175	165	168					X																	111698666		2203	4300	6503	111585322	SO:0001583	missense	340595			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.710C>T	X.37:g.111698666C>T	ENSP00000340590:p.Ser237Phe		111585322	B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	8.493	0.862536	0.17178	.	.	ENSG00000187823	ENST00000340433	T	0.34667	1.35	4.12	3.24	0.37175	.	0.443794	0.16885	N	0.195545	T	0.52125	0.1715	M	0.69823	2.125	0.09310	N	1	D	0.61697	0.99	D	0.63192	0.912	T	0.35051	-0.9804	10	0.46703	T	0.11	-8.8677	8.8301	0.35078	0.0:0.7762:0.2238:0.0	.	237	Q6ZR62	ZCH16_HUMAN	F	237	ENSP00000340590:S237F	ENSP00000340590:S237F	S	+	2	0	ZCCHC16	111585322	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.285000	0.08410	1.080000	0.41073	0.529000	0.55759	TCC		0.532	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		T	111698666	C	T	111698666	3	4	384	1	0	0	0	0	1	0	0	0	17584	855	30	2	712	2	ZCCHC16	23	111698666	Missense_Mutation	SNP	C	TCGA-36-2532-01A-01D-1526-09		111698666	43571894	43	20909											
WDR78	79819	genome.wustl.edu	37	1	67337151	67337151	+	Nonsense_Mutation	SNP	A	A	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr1:67337151A>C	ENST00000371026.3	-	6	897	c.842T>G	c.(841-843)tTa>tGa	p.L281*	WDR78_ENST00000371022.3_Nonsense_Mutation_p.L281*|WDR78_ENST00000431318.1_Nonsense_Mutation_p.L27*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.L281*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	281					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTCATTGCCTAATCTGTTTCT	0.318																																																0			1											155	154	154					1																	67337151		2201	4297	6498	67109739	SO:0001587	stop_gained	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.842T>G	1.37:g.67337151A>C	ENSP00000360065:p.Leu281*		67109739	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.89|14.89	2.669828|2.669828	0.47677|0.47677	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000469450|ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022	.|.	.|.	.|.	5.86|5.86	2.39|2.39	0.29439|0.29439	.|.	.|1.752990	.|0.02689	.|N	.|0.110392	T|.	0.06050|.	0.0157|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15636|.	-1.0430|.	3|.	.|0.11485	.|T	.|0.65	-0.1881|-0.1881	7.116|7.116	0.25416|0.25416	0.5783:0.0:0.4217:0.0|0.5783:0.0:0.4217:0.0	.|.	.|.	.|.	.|.	M|X	14|281;27;47;281;281	.|.	.|ENSP00000360061:L281X	I|L	-|-	3|2	3|0	WDR78|WDR78	67109739|67109739	0.124000|0.124000	0.22315|0.22315	0.712000|0.712000	0.30502|0.30502	0.001000|0.001000	0.01503|0.01503	0.619000|0.619000	0.24388|0.24388	0.470000|0.470000	0.27294|0.27294	-0.263000|-0.263000	0.10527|0.10527	ATT|TTA		0.318	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		C	67337151	A	C	67337151	4	2	385	1	0	0	0	0	0	1	0	0	17328	372	13	5	1809	5	WDR78	1	67337151	Nonsense_Mutation	SNP	A	TCGA-36-2533-01A-01D-1526-09		67337151	181913470	1	20910											
WARS2	10352	genome.wustl.edu	37	1	119575848	119575848	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr1:119575848C>G	ENST00000235521.4	-	6	795	c.769G>C	c.(769-771)Gac>Cac	p.D257H	WARS2_ENST00000537870.1_Missense_Mutation_p.D163H|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	257					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GAGGTGAAGTCTGTCACAGCC	0.582																																																0			1											113	103	106					1																	119575848		2203	4300	6503	119377371	SO:0001583	missense	10352			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.769G>C	1.37:g.119575848C>G	ENSP00000235521:p.Asp257His		119377371	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	CCDS900.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059759	0.93846	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.35973	1.28;1.28	5.87	5.87	0.94306	.	0.092500	0.85682	D	0.000000	T	0.77096	0.4080	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86870	0.2035	10	0.87932	D	0	-27.3781	20.206	0.98277	0.0:1.0:0.0:0.0	.	200;257	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	H	257;163	ENSP00000235521:D257H;ENSP00000438807:D163H	ENSP00000235521:D257H	D	-	1	0	WARS2	119377371	1.000000	0.71417	0.966000	0.40874	0.914000	0.54420	7.252000	0.78309	2.785000	0.95823	0.655000	0.94253	GAC		0.582	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		G	119575848	C	G	119575848	3	3	385	1	0	0	0	0	1	0	0	0	17250	913	32	3	317	3	WARS2	1	119575848	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	52238697	119575848	129674773	2	20911											
HIST2H2BF	440689	genome.wustl.edu	37	1	149783748	149783748	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr1:149783748T>C	ENST00000369167.1	-	1	166	c.131A>G	c.(130-132)aAg>aGg	p.K44R	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.K44R|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.K44R	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	44					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CTTCAGCACCTTGTACACGTA	0.572																																																0			1											204	183	190					1																	149783748		2203	4297	6500	148050372	SO:0001583	missense	440689			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.131A>G	1.37:g.149783748T>C	ENSP00000358164:p.Lys44Arg		148050372	A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.436137	0.83885	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.37915	1.17;1.17;1.17	3.52	3.52	0.40303	Histone-fold (2);Histone core (1);	0.000000	0.50627	D	0.000108	T	0.24198	0.0586	L	0.49513	1.565	0.40996	D	0.984894	P;P;B	0.50272	0.933;0.616;0.119	P;B;B	0.45195	0.473;0.217;0.137	T	0.07065	-1.0792	10	0.56958	D	0.05	.	11.9124	0.52747	0.0:0.0:0.0:1.0	.	44;44;44	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	R	44	ENSP00000445831:K44R;ENSP00000407461:K44R;ENSP00000358164:K44R	ENSP00000358164:K44R	K	-	2	0	HIST2H2BF	148050372	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.170000	0.77587	1.851000	0.53745	0.155000	0.16302	AAG		0.572	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		C	149783748	T	C	149783748	3	2	385	1	0	0	0	0	1	0	0	0	7180	1609	56	4	670	4	HIST2H2BF	1	149783748	Missense_Mutation	SNP	T	TCGA-36-2533-01A-01D-1526-09	30207900	149783748	99466873	3	20912											
ABCB10	23456	genome.wustl.edu	37	1	229685102	229685102	+	Silent	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr1:229685102G>T	ENST00000344517.4	-	2	639	c.597C>A	c.(595-597)atC>atA	p.I199I	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	199	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GGTTGGTATAGATGACATCAA	0.532																																																0			1											98	89	92					1																	229685102		2203	4300	6503	227751725	SO:0001819	synonymous_variant	23456			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.597C>A	1.37:g.229685102G>T			227751725	Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	37	CCDS1580.1																																																																																				0.532	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		T	229685102	G	T	229685102	2	4	385	1	0	0	0	0	0	0	0	1	41	932	33	3		3	ABCB10	1	229685102	Silent	SNP	G	TCGA-36-2533-01A-01D-1526-09	79901354	229685102	19565519	4	20913											
DPP4	1803	genome.wustl.edu	37	2	162865112	162865112	+	Silent	SNP	A	A	G	rs201024370		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr2:162865112A>G	ENST00000360534.3	-	22	2507	c.1947T>C	c.(1945-1947)tgT>tgC	p.C649C	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	649					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CGGCTATTCCACACTTGAACA	0.463																																																0			2											102	90	94					2																	162865112		2203	4300	6503	162573358	SO:0001819	synonymous_variant	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1947T>C	2.37:g.162865112A>G			162573358	Q53TN1	Silent	SNP	ENST00000360534.3	37	CCDS2216.1																																																																																				0.463	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			G	162865112	A	G	162865112	2	3	385	1	0	0	0	0	0	0	0	1	4729	157	6	4		4	DPP4	2	162865112	Silent	SNP	A	TCGA-36-2533-01A-01D-1526-09		162865112	80334261	5	20914											
TTN	7273	genome.wustl.edu	37	2	179613334	179613334	+	Intron	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr2:179613334G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P4598Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTCTTCTGGTTGACCACT	0.348																																																0			2											127	136	133					2																	179613334		2203	4299	6502	179321579	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4516C>A	2.37:g.179613334G>T			179321579	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	9.291	1.050685	0.19827	.	.	ENSG00000155657	ENST00000360870	T	0.56941	0.43	6.01	3.93	0.45458	.	.	.	.	.	T	0.31327	0.0793	N	0.17082	0.46	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.05750	-1.0866	9	0.11485	T	0.65	.	9.0657	0.36462	0.0679:0.0:0.5545:0.3776	.	4598	Q8WZ42-6	.	Q	4598	ENSP00000354117:P4598Q	ENSP00000354117:P4598Q	P	-	2	0	TTN	179321579	0.009000	0.17119	0.428000	0.26697	0.284000	0.27059	0.389000	0.20751	0.559000	0.29153	0.650000	0.86243	CCA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179613334	G	T	179613334	1	4	385	0	1	0	0	0	0	0	0	0	16735	1348	47	3		3	TTN	2	179613334	Intron	SNP	G	TCGA-36-2533-01A-01D-1526-09	16748222	179613334	63586039	6	20915											
MARCH4	57574	genome.wustl.edu	37	2	217234805	217234805	+	Missense_Mutation	SNP	G	G	A	rs199661444		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr2:217234805G>A	ENST00000273067.4	-	1	1945	c.179C>T	c.(178-180)gCg>gTg	p.A60V		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	60	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGGCAGGGGCGCTTGAGGAGG	0.697													G|||	1	0.000199681	8e-04	0	5008	,	,		14024	0		0	False		,,,				2504	0															0			2						G	VAL/ALA	12,4336		0,12,2162	8	9	8		179	4.4	1	2		8	0,8484		0,0,4242	yes	missense	MARCH4	NM_020814.2	64	0,12,6404	AA,AG,GG		0.0,0.276,0.0935	benign	60/411	217234805	12,12820	2174	4242	6416	216943050	SO:0001583	missense	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.179C>T	2.37:g.217234805G>A	ENSP00000273067:p.Ala60Val		216943050	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	CCDS33376.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.69	3.193764	0.58017	0.00276	0.0	ENSG00000144583	ENST00000273067	T	0.14516	2.5	5.24	4.36	0.52297	.	0.599767	0.15826	N	0.242775	T	0.08044	0.0201	N	0.24115	0.695	0.29288	N	0.869584	B	0.33073	0.396	B	0.16289	0.015	T	0.12041	-1.0563	10	0.62326	D	0.03	0.155	8.2651	0.31808	0.0837:0.1712:0.7451:0.0	.	60	Q9P2E8	MARH4_HUMAN	V	60	ENSP00000273067:A60V	ENSP00000273067:A60V	A	-	2	0	MARCH4	216943050	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.423000	0.59861	1.423000	0.47198	0.591000	0.81541	GCG		0.697	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		A	217234805	G	A	217234805	3	1	385	1	0	0	0	0	1	0	0	0	9303	1087	38	1	1069	1	MARCH4	2	217234805	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09	37621471	217234805	25964568	7	20916											
ESPNL	339768	genome.wustl.edu	37	2	239037432	239037432	+	Missense_Mutation	SNP	G	G	A	rs374688238		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr2:239037432G>A	ENST00000343063.3	+	8	1563	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R	ESPNL_ENST00000409169.1_Missense_Mutation_p.G390R|ESPNL_ENST00000409506.1_Missense_Mutation_p.G66R	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	434										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGACATCGACGGGCTGGTGCC	0.701																																																0			2											11	13	12					2																	239037432		2161	4261	6422	238702171	SO:0001583	missense	339768			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1300G>A	2.37:g.239037432G>A	ENSP00000339115:p.Gly434Arg		238702171	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	g	12.41	1.929442	0.34096	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506;ENST00000423032	T;T;T	0.06294	3.32;3.32;3.32	4.51	3.61	0.41365	.	0.577500	0.16058	N	0.231607	T	0.05364	0.0142	L	0.44542	1.39	0.09310	N	0.99999	P;P	0.43519	0.809;0.71	B;B	0.35114	0.196;0.096	T	0.36138	-0.9760	10	0.49607	T	0.09	-16.9495	6.0898	0.19989	0.1022:0.0:0.7119:0.1859	.	390;434	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	R	434;390;66;66	ENSP00000339115:G434R;ENSP00000386577:G390R;ENSP00000386579:G66R	ENSP00000339115:G434R	G	+	1	0	ESPNL	238702171	0.050000	0.20438	0.992000	0.48379	0.315000	0.28087	1.368000	0.34216	0.871000	0.35750	0.306000	0.20318	GGG		0.701	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239037432	G	A	239037432	3	1	385	1	0	0	0	0	1	0	0	0	5255	1116	39	1	1330	1	ESPNL	2	239037432	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09	21802627	239037432	4161941	8	20917											
MLH1	4292	genome.wustl.edu	37	3	37061951	37061951	+	Silent	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:37061951C>G	ENST00000231790.2	+	11	1251	c.1035C>G	c.(1033-1035)acC>acG	p.T345T	MLH1_ENST00000435176.1_Silent_p.T247T|MLH1_ENST00000458205.2_Silent_p.T104T|MLH1_ENST00000455445.2_Silent_p.T104T|MLH1_ENST00000539477.1_Silent_p.T104T|MLH1_ENST00000536378.1_Silent_p.T104T	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	345					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGTACTTCACCCAGGTCAGGG	0.542		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	1	Whole gene deletion(1)	ovary(1)	3											55	53	54					3																	37061951		2203	4300	6503	37036955	SO:0001819	synonymous_variant	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1035C>G	3.37:g.37061951C>G			37036955	B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287150	0.23478	.	.	ENSG00000076242	ENST00000456676	.	.	.	5.23	2.38	0.29361	.	.	.	.	.	T	0.29158	0.0725	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18935	-1.0321	6	.	.	.	-22.3766	0.9761	0.01426	0.2561:0.3319:0.2368:0.1753	.	12	E9PE33	.	R	337	.	.	P	+	2	0	MLH1	37036955	0.933000	0.31639	1.000000	0.80357	0.992000	0.81027	-0.044000	0.12023	1.438000	0.47492	0.655000	0.94253	CCC		0.542	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		G	37061951	C	G	37061951	2	3	385	1	0	0	0	0	0	0	0	1	9617	610	22	3		3	MLH1	3	37061951	Silent	SNP	C	TCGA-36-2533-01A-01D-1526-09		37061951	160960479	9	20918											
XIRP1	165904	genome.wustl.edu	37	3	39225777	39225777	+	Silent	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:39225777C>T	ENST00000340369.3	-	2	5388	c.5160G>A	c.(5158-5160)ggG>ggA	p.G1720G	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.G403G	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1720	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTCCTTCTTCCCAGTTTTGT	0.557																																																0			3											94	78	83					3																	39225777		2203	4300	6503	39200781	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5160G>A	3.37:g.39225777C>T			39200781	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																				0.557	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		T	39225777	C	T	39225777	2	4	385	1	0	0	0	0	0	0	0	1	17429	842	30	2		2	XIRP1	3	39225777	Silent	SNP	C	TCGA-36-2533-01A-01D-1526-09	2163826	39225777	158796653	10	20919											
FBXW12	285231	genome.wustl.edu	37	3	48420930	48420930	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:48420930C>A	ENST00000296438.5	+	7	842	c.656C>A	c.(655-657)cCt>cAt	p.P219H	RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000445170.1_Missense_Mutation_p.P200H|FBXW12_ENST00000436231.1_Missense_Mutation_p.P62H|FBXW12_ENST00000415155.1_Missense_Mutation_p.P149H	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	219										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTACACTGCCTGGGTTAAGA	0.413																																																0			3											313	281	292					3																	48420930		2203	4300	6503	48395934	SO:0001583	missense	285231			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.656C>A	3.37:g.48420930C>A	ENSP00000296438:p.Pro219His		48395934	E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705783	0.48412	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.63580	1.56;-0.05;1.56;3.41	3.64	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.211582	0.40908	N	0.001000	T	0.74535	0.3729	M	0.67397	2.05	0.18873	N	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.64210	-0.6461	10	0.72032	D	0.01	-8.418	11.1474	0.48438	0.0:1.0:0.0:0.0	.	118;200;149;219	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	H	118;219;62;200;149	ENSP00000296438:P219H;ENSP00000413866:P62H;ENSP00000406139:P200H;ENSP00000414683:P149H	ENSP00000296438:P219H	P	+	2	0	FBXW12	48395934	0.191000	0.23288	0.118000	0.21660	0.009000	0.06853	2.734000	0.47368	2.320000	0.78422	0.655000	0.94253	CCT		0.413	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		A	48420930	C	A	48420930	3	1	385	1	0	0	0	0	1	0	0	0	5765	681	24	3	715	3	FBXW12	3	48420930	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	9195153	48420930	149601500	11	20920											
TMEM45A	55076	genome.wustl.edu	37	3	100274162	100274162	+	Missense_Mutation	SNP	G	G	A	rs146094123		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:100274162G>A	ENST00000323523.4	+	2	420	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	TMEM45A_ENST00000403410.1_Missense_Mutation_p.R52Q|TMEM45A_ENST00000462884.1_3'UTR	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	36						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AAGCAAAAGCGAACCTGCTAT	0.388													G|||	1	0.000199681	0	0.0014	5008	,	,		17341	0		0	False		,,,				2504	0															0			3						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	183	187	185		107	5	0.9	3	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TMEM45A	NM_018004.1	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	36/276	100274162	2,13004	2203	4300	6503	101756852	SO:0001583	missense	55076			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.107G>A	3.37:g.100274162G>A	ENSP00000319009:p.Arg36Gln		101756852	Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768105	0.49680	2.27E-4	1.16E-4	ENSG00000181458	ENST00000323523;ENST00000403410;ENST00000449609	T;T;T	0.49432	1.38;1.38;0.78	5.84	4.97	0.65823	.	0.307696	0.35466	N	0.003200	T	0.35624	0.0938	L	0.58302	1.8	0.27880	N	0.939706	P;P	0.37997	0.614;0.528	B;B	0.26864	0.074;0.019	T	0.33523	-0.9865	10	0.28530	T	0.3	-11.7505	7.9582	0.30055	0.2372:0.0:0.7628:0.0	.	52;36	C9J9Z5;Q9NWC5	.;TM45A_HUMAN	Q	36;52;52	ENSP00000319009:R36Q;ENSP00000385089:R52Q;ENSP00000405597:R52Q	ENSP00000319009:R36Q	R	+	2	0	TMEM45A	101756852	0.798000	0.28890	0.882000	0.34594	0.832000	0.47134	2.565000	0.45939	1.470000	0.48102	0.655000	0.94253	CGA		0.388	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		A	100274162	G	A	100274162	3	1	385	1	0	0	0	0	1	0	0	0	16169	1058	37	1	109	1	TMEM45A	3	100274162	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09	51853232	100274162	97748268	12	20921											
EIF2B5	8893	genome.wustl.edu	37	3	183858257	183858257	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:183858257C>T	ENST00000273783.3	+	7	1017	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	EIF2B5_ENST00000444495.1_Missense_Mutation_p.R299C	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	299			R -> H (in VWM). {ECO:0000269|PubMed:11704758}.		astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATATGGTGCCCGTGTCTCCAA	0.522																																																0			3											272	256	261					3																	183858257		2203	4300	6503	185340951	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.895C>T	3.37:g.183858257C>T	ENSP00000273783:p.Arg299Cys		185340951	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	32	5.121721	0.94385	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.99511	-6.05;-6.05	5.8	5.8	0.92144	Trimeric LpxA-like (1);	0.053967	0.64402	D	0.000001	D	0.99387	0.9784	M	0.86864	2.845	0.80722	D	1	P;D	0.76494	0.881;0.999	B;P	0.57720	0.277;0.826	D	0.99091	1.0840	10	0.36615	T	0.2	.	14.8478	0.70272	0.1437:0.8563:0.0:0.0	.	299;299	E9PC74;Q13144	.;EI2BE_HUMAN	C	299;299;55	ENSP00000273783:R299C;ENSP00000409142:R299C	ENSP00000273783:R299C	R	+	1	0	EIF2B5	185340951	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.885000	0.69736	2.746000	0.94184	0.563000	0.77884	CGT		0.522	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			T	183858257	C	T	183858257	3	4	385	1	0	0	0	0	1	0	0	0	5004	652	23	1	921	1	EIF2B5	3	183858257	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	83584095	183858257	14164173	13	20922											
ST6GAL1	6480	genome.wustl.edu	37	3	186761001	186761001	+	Silent	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:186761001C>G	ENST00000169298.3	+	4	1184	c.510C>G	c.(508-510)ccC>ccG	p.P170P	ST6GAL1_ENST00000448044.1_Silent_p.P170P|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	170					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTTATCTGCCCAAGGAGAGCA	0.552																																																0			3											106	103	104					3																	186761001		2203	4300	6503	188243695	SO:0001819	synonymous_variant	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.510C>G	3.37:g.186761001C>G			188243695	A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	CCDS3285.1																																																																																				0.552	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		G	186761001	C	G	186761001	2	3	385	1	0	0	0	0	0	0	0	1	15223	581	21	3		3	ST6GAL1	3	186761001	Silent	SNP	C	TCGA-36-2533-01A-01D-1526-09	2902744	186761001	11261429	14	20923											
OSTalpha	200931	genome.wustl.edu	37	3	195955131	195955131	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:195955131C>G	ENST00000296327.5	+	5	717	c.508C>G	c.(508-510)Ctg>Gtg	p.L170V		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	170					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ctgtccacggctgctgctCAC	0.672																																																0			3											54	54	54					3																	195955131		2203	4300	6503	197439528	SO:0001583	missense	200931				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.508C>G	3.37:g.195955131C>G	ENSP00000296327:p.Leu170Val		197439528	Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298580	0.05532	.	.	ENSG00000163959	ENST00000296327	T	0.41400	1.0	5.5	-2.14	0.07123	.	0.673556	0.12961	N	0.425028	T	0.21267	0.0512	L	0.29908	0.895	0.26957	N	0.965906	B	0.26672	0.156	B	0.25614	0.062	T	0.35500	-0.9786	10	0.02654	T	1	-19.162	7.0312	0.24969	0.6079:0.184:0.0:0.2081	.	170	Q86UW1	OSTA_HUMAN	V	170	ENSP00000296327:L170V	ENSP00000296327:L170V	L	+	1	2	AC069257.9	197439528	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.215000	0.09279	-0.663000	0.05331	-0.182000	0.12963	CTG		0.672	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		G	195955131	C	G	195955131	3	3	385	1	0	0	0	0	1	0	0	0	11300	796	28	3	526	3	OSTalpha	3	195955131	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	9194130	195955131	2067299	15	20924											
GABRB1	2560	genome.wustl.edu	37	4	47428009	47428009	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr4:47428009G>A	ENST00000295454.3	+	9	1691	c.1399G>A	c.(1399-1401)Gtc>Atc	p.V467I	GABRB1_ENST00000538619.1_Missense_Mutation_p.V397I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	467					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTAATGTCGTCTATTGGCT	0.418																																																0			4											96	92	93					4																	47428009		2202	4299	6501	47122766	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1399G>A	4.37:g.47428009G>A	ENSP00000295454:p.Val467Ile		47122766	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	5.415	0.261782	0.10239	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.83837	-1.77;-1.77	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.164709	0.39985	N	0.001201	T	0.70631	0.3246	N	0.11724	0.165	0.51012	D	0.999908	B;B	0.25719	0.005;0.132	B;B	0.18871	0.019;0.023	T	0.65356	-0.6188	10	0.21540	T	0.41	-19.0431	19.2334	0.93849	0.0:0.0:1.0:0.0	.	397;467	F5GXV5;P18505	.;GBRB1_HUMAN	I	467;397	ENSP00000295454:V467I;ENSP00000440330:V397I	ENSP00000295454:V467I	V	+	1	0	GABRB1	47122766	1.000000	0.71417	0.998000	0.56505	0.154000	0.21943	7.637000	0.83313	2.781000	0.95711	0.650000	0.86243	GTC		0.418	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			A	47428009	G	A	47428009	3	1	385	1	0	0	0	0	1	0	0	0	6166	1145	40	1	1433	1	GABRB1	4	47428009	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09		47428009	143726267	16	20925											
LARS	51520	genome.wustl.edu	37	5	145529206	145529206	+	Silent	SNP	A	A	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr5:145529206A>T	ENST00000394434.2	-	15	1648	c.1482T>A	c.(1480-1482)atT>atA	p.I494I	LARS_ENST00000510191.1_Silent_p.I440I|LARS_ENST00000274562.9_Silent_p.I467I|LARS_ENST00000545646.1_Silent_p.I448I	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	494	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCTTTTTCTGAATAGTCTTCT	0.373																																																0			5											264	256	259					5																	145529206		2203	4300	6503	145509399	SO:0001819	synonymous_variant	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1482T>A	5.37:g.145529206A>T			145509399	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																				0.373	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		T	145529206	A	T	145529206	2	4	385	1	0	0	0	0	0	0	0	1	8634	242	9	5		5	LARS	5	145529206	Silent	SNP	A	TCGA-36-2533-01A-01D-1526-09		145529206	35386054	17	20926											
ELOVL2	54898	genome.wustl.edu	37	6	11010983	11010983	+	Silent	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:11010983C>T	ENST00000354666.3	-	2	146	c.63G>A	c.(61-63)ccG>ccA	p.P21P		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	21					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ACTGACCTCGCGGTCCAAACA	0.333																																																0			6											91	86	88					6																	11010983		2203	4300	6503	11118969	SO:0001819	synonymous_variant	54898			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.63G>A	6.37:g.11010983C>T			11118969	Q6P9E1|Q86W94	Silent	SNP	ENST00000354666.3	37	CCDS4518.1																																																																																				0.333	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			T	11010983	C	T	11010983	2	4	385	1	0	0	0	0	0	0	0	1	5074	755	27	1		1	ELOVL2	6	11010983	Silent	SNP	C	TCGA-36-2533-01A-01D-1526-09		11010983	160104084	18	20927											
HLA-E	3133	genome.wustl.edu	37	6	30457652	30457652	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:30457652T>A	ENST00000376630.4	+	2	279	c.214T>A	c.(214-216)Tgg>Agg	p.W72R		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	72	Alpha-1.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GCGGGCGCCGTGGATGGAGCA	0.662																																																0			6											66	76	72					6																	30457652		1510	2708	4218	30565631	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.214T>A	6.37:g.30457652T>A	ENSP00000365817:p.Trp72Arg		30565631	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.926486	0.52759	.	.	ENSG00000204592	ENST00000376630	T	0.02446	4.29	1.67	1.67	0.24075	.	0.000000	0.30347	U	0.009840	T	0.14013	0.0339	H	0.99545	4.62	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.11717	-1.0576	10	0.87932	D	0	.	5.384	0.16208	0.0:0.0:0.0:1.0	.	113;72	E7ENN9;Q6DU44	.;.	R	72	ENSP00000365817:W72R	ENSP00000365817:W72R	W	+	1	0	HLA-E	30565631	0.994000	0.37717	0.190000	0.23270	0.120000	0.20174	3.532000	0.53553	1.016000	0.39470	0.379000	0.24179	TGG		0.662	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		A	30457652	T	A	30457652	3	1	385	1	0	0	0	0	1	0	0	0	7210	1696	59	5	220	5	HLA-E	6	30457652	Missense_Mutation	SNP	T	TCGA-36-2533-01A-01D-1526-09	19446669	30457652	140657415	19	20928											
PHF1	5252	genome.wustl.edu	37	6	33382137	33382137	+	Silent	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:33382137G>A	ENST00000374516.3	+	9	1141	c.870G>A	c.(868-870)ctG>ctA	p.L290L	PHF1_ENST00000374512.3_Silent_p.L290L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	290					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTTTGCTCCTGGGGGAGGTAA	0.493											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			6											90	93	92					6																	33382137		2203	4300	6503	33490115	SO:0001819	synonymous_variant	5252			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.870G>A	6.37:g.33382137G>A		839	33490115	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	CCDS4777.1																																																																																				0.493	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			A	33382137	G	A	33382137	2	1	385	1	0	0	0	0	0	0	0	1	11820	1335	47	2		2	PHF1	6	33382137	Silent	SNP	G	TCGA-36-2533-01A-01D-1526-09	2924485	33382137	137732930	20	20929											
PTK7	5754	genome.wustl.edu	37	6	43100368	43100368	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:43100368T>A	ENST00000230419.4	+	7	1392	c.1171T>A	c.(1171-1173)Tgc>Agc	p.C391S	PTK7_ENST00000471863.1_Missense_Mutation_p.C391S|PTK7_ENST00000349241.2_Missense_Mutation_p.C391S|PTK7_ENST00000352931.2_Missense_Mutation_p.C391S|PTK7_ENST00000481273.1_Missense_Mutation_p.C399S|PTK7_ENST00000345201.2_Missense_Mutation_p.C391S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	391	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGTCTACACCTGCCACGCGGC	0.607																																																0			6											30	22	25					6																	43100368		2203	4300	6503	43208346	SO:0001583	missense	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1171T>A	6.37:g.43100368T>A	ENSP00000230419:p.Cys391Ser		43208346	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595670	0.86953	.	.	ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000481946	D;D;D;D;D;D;D	0.89939	-2.53;-2.59;-1.98;-2.29;-2.29;-2.53;-2.59	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96288	0.8789	H	0.98682	4.3	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;0.997;1.0	D	0.97631	1.0142	10	0.87932	D	0	.	13.3205	0.60430	0.0:0.0:0.0:1.0	.	399;67;391;391;391;391;391	E9PFZ5;F8W9X8;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;.;PTK7_HUMAN;.	S	391;67;391;391;391;391;399;144	ENSP00000230419:C391S;ENSP00000419037:C391S;ENSP00000325462:C391S;ENSP00000326029:C391S;ENSP00000325992:C391S;ENSP00000418754:C399S;ENSP00000420165:C144S	ENSP00000230418:C391S	C	+	1	0	PTK7	43208346	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.251000	0.78297	1.896000	0.54893	0.379000	0.24179	TGC		0.607	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			A	43100368	T	A	43100368	3	1	385	1	0	0	0	0	1	0	0	0	12768	1580	55	5	1197	5	PTK7	6	43100368	Missense_Mutation	SNP	T	TCGA-36-2533-01A-01D-1526-09	9718231	43100368	128014699	21	20930											
DSE	29940	genome.wustl.edu	37	6	116747991	116747991	+	Splice_Site	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:116747991G>T	ENST00000331677.3	+	4	1114		c.e4+1		DSE_ENST00000537543.1_Splice_Site|DSE_ENST00000452085.3_Splice_Site|DSE_ENST00000359564.2_Splice_Site			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATGAATCAAGGTGGGTGTGGA	0.463																																																0			6											78	67	70					6																	116747991		2203	4300	6503	116854684	SO:0001630	splice_region_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.670+1G>T	6.37:g.116747991G>T			116854684	Q5R3K6	Splice_Site	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063085	0.55432	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSE	116854684	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	7.758000	0.85224	2.765000	0.95021	0.655000	0.94253	.		0.463	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	Intron	T	116747991	G	T	116747991	5	4	385	1	0	0	0	0	0	0	1	0	4774	1275	44	3	677	3	DSE	6	116747991	Splice_Site	SNP	G	TCGA-36-2533-01A-01D-1526-09	73647623	116747991	54367076	22	20931											
IGFBP1	3484	genome.wustl.edu	37	7	45931586	45931586	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr7:45931586A>G	ENST00000275525.3	+	3	871	c.575A>G	c.(574-576)gAg>gGg	p.E192G	IGFBP1_ENST00000468955.1_Intron|IGFBP1_ENST00000457280.1_Missense_Mutation_p.E192G	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	192	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						AAGGCACAGGAGACATCAGGA	0.443											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			7											78	77	77					7																	45931586		2203	4300	6503	45898111	SO:0001583	missense	3484				CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.575A>G	7.37:g.45931586A>G	ENSP00000275525:p.Glu192Gly	935	45898111	A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655213	0.67472	.	.	ENSG00000146678	ENST00000275525;ENST00000457280	T;T	0.64618	-0.11;-0.11	4.81	3.63	0.41609	Thyroglobulin type-1 (4);	0.175955	0.51477	D	0.000084	T	0.63462	0.2513	L	0.38175	1.15	0.80722	D	1	P;P	0.37688	0.605;0.605	P;P	0.51297	0.464;0.665	T	0.63363	-0.6654	10	0.59425	D	0.04	-5.5468	10.0599	0.42268	0.8302:0.1698:0.0:0.0	.	192;192	P08833;C9JXF9	IBP1_HUMAN;.	G	192	ENSP00000275525:E192G;ENSP00000413511:E192G	ENSP00000275525:E192G	E	+	2	0	IGFBP1	45898111	1.000000	0.71417	0.008000	0.14137	0.002000	0.02628	6.092000	0.71414	0.753000	0.32945	0.533000	0.62120	GAG		0.443	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		G	45931586	A	G	45931586	3	3	385	1	0	0	0	0	1	0	0	0	7578	304	11	4	585	4	IGFBP1	7	45931586	Missense_Mutation	SNP	A	TCGA-36-2533-01A-01D-1526-09		45931586	113207077	23	20932											
ST18	9705	genome.wustl.edu	37	8	53049163	53049163	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:53049163A>T	ENST00000276480.7	-	19	2970	c.2287T>A	c.(2287-2289)Tct>Act	p.S763T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	763					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCTCCTGAGAGTTGGCAGCC	0.488																																																0			8											65	55	59					8																	53049163		2203	4300	6503	53211716	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2287T>A	8.37:g.53049163A>T	ENSP00000276480:p.Ser763Thr		53211716	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918311	0.73098	.	.	ENSG00000147488	ENST00000276480	T	0.53206	0.63	5.91	5.91	0.95273	.	0.049837	0.85682	D	0.000000	T	0.62913	0.2467	L	0.58354	1.805	0.58432	D	0.999998	D	0.71674	0.998	P	0.61397	0.888	T	0.62969	-0.6741	10	0.48119	T	0.1	-15.0119	16.3483	0.83171	1.0:0.0:0.0:0.0	.	763	O60284	ST18_HUMAN	T	763	ENSP00000276480:S763T	ENSP00000276480:S763T	S	-	1	0	ST18	53211716	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	3.928000	0.56506	2.254000	0.74563	0.533000	0.62120	TCT		0.488	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			T	53049163	A	T	53049163	3	4	385	1	0	0	0	0	1	0	0	0	15214	304	11	5	888	5	ST18	8	53049163	Missense_Mutation	SNP	A	TCGA-36-2533-01A-01D-1526-09		53049163	93314859	24	20933											
SLC26A7	115111	genome.wustl.edu	37	8	92355635	92355635	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:92355635C>A	ENST00000276609.3	+	9	1320	c.1081C>A	c.(1081-1083)Cca>Aca	p.P361T	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P361T|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P361T|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTCTGCATACCAAGTGCTGC	0.453																																																0			8											94	91	92					8																	92355635		2203	4300	6503	92424811	SO:0001583	missense	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1081C>A	8.37:g.92355635C>A	ENSP00000276609:p.Pro361Thr		92424811		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331711	0.81690	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.93712	-3.27;-3.27;-3.27	5.89	5.89	0.94794	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95711	0.8605	L	0.55990	1.75	0.48185	D	0.999609	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93238	0.6623	10	0.21540	T	0.41	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	361;361	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	T	361	ENSP00000428849:P361T;ENSP00000276609:P361T;ENSP00000309504:P361T	ENSP00000276609:P361T	P	+	1	0	SLC26A7	92424811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.114000	0.64648	2.788000	0.95919	0.557000	0.71058	CCA		0.453	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			A	92355635	C	A	92355635	3	1	385	1	0	0	0	0	1	0	0	0	14525	507	18	3	1111	3	SLC26A7	8	92355635	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	39306472	92355635	54008387	25	20934											
KIAA1429	25962	genome.wustl.edu	37	8	95505026	95505026	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:95505026T>G	ENST00000297591.5	-	21	4737	c.4662A>C	c.(4660-4662)gaA>gaC	p.E1554D	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1554					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTCAGAGAGTTCAATTAAGT	0.328																																																0			8											79	73	75					8																	95505026		2203	4300	6503	95574202	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4662A>C	8.37:g.95505026T>G	ENSP00000297591:p.Glu1554Asp		95574202	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.040475	0.55003	.	.	ENSG00000164944	ENST00000297591	T	0.48201	0.82	5.51	0.398	0.16319	.	0.174988	0.49916	D	0.000130	T	0.30039	0.0752	N	0.16743	0.435	0.80722	D	1	P	0.40834	0.73	B	0.41917	0.37	T	0.02885	-1.1098	10	0.30854	T	0.27	-13.9432	10.0237	0.42059	0.0:0.4197:0.0:0.5803	.	1554	Q69YN4	VIR_HUMAN	D	1554	ENSP00000297591:E1554D	ENSP00000297591:E1554D	E	-	3	2	KIAA1429	95574202	0.162000	0.22906	0.998000	0.56505	0.958000	0.62258	-0.517000	0.06275	0.041000	0.15688	-1.054000	0.02325	GAA		0.328	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		G	95505026	T	G	95505026	3	3	385	1	0	0	0	0	1	0	0	0	8231	1722	60	5	792	5	KIAA1429	8	95505026	Missense_Mutation	SNP	T	TCGA-36-2533-01A-01D-1526-09	3149391	95505026	50858996	26	20935											
GRHL2	79977	genome.wustl.edu	37	8	102582623	102582623	+	Splice_Site	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:102582623G>A	ENST00000251808.3	+	5	1072		c.e5+1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGACATCAAGGTGAGTTACCA	0.358																																																0			8											163	162	162					8																	102582623		2203	4300	6503	102651799	SO:0001630	splice_region_variant	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.734+1G>A	8.37:g.102582623G>A			102651799	A1L303|Q6NT03|Q9H8B8	Splice_Site	SNP	ENST00000251808.3	37	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358675	0.61403	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7783	0.29049	0.1443:0.0:0.8557:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRHL2	102651799	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	6.208000	0.72165	2.374000	0.81015	0.650000	0.86243	.		0.358	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	Intron	A	102582623	G	A	102582623	5	1	385	1	0	0	0	0	0	0	1	0	6764	1275	44	2	753	2	GRHL2	8	102582623	Splice_Site	SNP	G	TCGA-36-2533-01A-01D-1526-09	7077597	102582623	43781399	27	20936											
ADCY8	114	genome.wustl.edu	37	8	131921955	131921955	+	Splice_Site	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:131921955C>T	ENST00000286355.5	-	6	3731	c.1639G>A	c.(1639-1641)Ggg>Agg	p.G547R	ADCY8_ENST00000377928.3_Splice_Site_p.G547R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	547					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTATCTTACCCAGGGATTCCT	0.453										HNSCC(32;0.087)																																						0			8											219	198	205					8																	131921955		2203	4300	6503	131991137	SO:0001630	splice_region_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1640+1G>A	8.37:g.131921955C>T			131991137		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705384	0.89018	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.86627	-2.15;-2.15;-2.15	5.92	5.92	0.95590	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	H	0.95004	3.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.96239	0.9174	10	0.87932	D	0	.	19.3225	0.94248	0.0:1.0:0.0:0.0	.	547;547	E7EVL1;P40145	.;ADCY8_HUMAN	R	547;547;162	ENSP00000286355:G547R;ENSP00000367161:G547R;ENSP00000428010:G162R	ENSP00000286355:G547R	G	-	1	0	ADCY8	131991137	1.000000	0.71417	0.985000	0.45067	0.372000	0.29890	7.818000	0.86416	2.822000	0.97130	0.650000	0.86243	GGG		0.453	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		Missense_Mutation	T	131921955	C	T	131921955	5	4	385	1	0	0	0	0	0	0	1	0	300	608	21	2	2168	2	ADCY8	8	131921955	Splice_Site	SNP	C	TCGA-36-2533-01A-01D-1526-09	29339332	131921955	14442067	28	20937											
FAM135B	51059	genome.wustl.edu	37	8	139164354	139164354	+	Silent	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:139164354G>T	ENST00000395297.1	-	13	2534	c.2364C>A	c.(2362-2364)acC>acA	p.T788T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	788								p.T788T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTGCTGCTTGGTGTCCGCAT	0.522										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	lung(2)	8											49	49	49					8																	139164354		2203	4300	6503	139233536	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2364C>A	8.37:g.139164354G>T			139233536	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139164354	G	T	139164354	2	4	385	1	0	0	0	0	0	0	0	1	5449	1335	47	3		3	FAM135B	8	139164354	Silent	SNP	G	TCGA-36-2533-01A-01D-1526-09	7242399	139164354	7199668	29	20938											
ZC3H3	23144	genome.wustl.edu	37	8	144620674	144620674	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:144620674C>A	ENST00000262577.5	-	2	894	c.863G>T	c.(862-864)gGa>gTa	p.G288V		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	288					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTGCCTGGGTCCTGAGGCCGG	0.617																																																0			8											58	67	64					8																	144620674		2203	4298	6501	144691817	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.863G>T	8.37:g.144620674C>A	ENSP00000262577:p.Gly288Val		144691817	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766034	0.49574	.	.	ENSG00000014164	ENST00000262577	T	0.03181	4.02	4.68	3.72	0.42706	.	0.313548	0.26609	N	0.023424	T	0.08980	0.0222	L	0.57536	1.79	0.09310	N	0.999992	D	0.64830	0.994	P	0.56865	0.808	T	0.06734	-1.0810	10	0.72032	D	0.01	-11.1153	6.4739	0.22024	0.0:0.6248:0.2753:0.0999	.	288	Q8IXZ2	ZC3H3_HUMAN	V	288	ENSP00000262577:G288V	ENSP00000262577:G288V	G	-	2	0	ZC3H3	144691817	0.000000	0.05858	0.587000	0.28692	0.916000	0.54674	0.387000	0.20718	2.528000	0.85240	0.655000	0.94253	GGA		0.617	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		A	144620674	C	A	144620674	3	1	385	1	0	0	0	0	1	0	0	0	17569	855	30	3	2027	3	ZC3H3	8	144620674	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	5456320	144620674	1743348	30	20939											
SLC27A4	10999	genome.wustl.edu	37	9	131117388	131117388	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr9:131117388G>A	ENST00000300456.4	+	10	1498	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	461					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D461Y(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGCCGCTTCGATGGCTACCT	0.622																																					Pancreas(107;1554 2241 10946 12953)											1	Substitution - Missense(1)	lung(1)	9											41	36	38					9																	131117388		2203	4300	6503	130157209	SO:0001583	missense	10999			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1381G>A	9.37:g.131117388G>A	ENSP00000300456:p.Asp461Asn		130157209	A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068160	0.93950	.	.	ENSG00000167114	ENST00000300456	T	0.40225	1.04	5.77	5.77	0.91146	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67169	-0.5738	10	0.18276	T	0.48	-24.9549	18.9865	0.92773	0.0:0.0:1.0:0.0	.	461	Q6P1M0	S27A4_HUMAN	N	461	ENSP00000300456:D461N	ENSP00000300456:D461N	D	+	1	0	SLC27A4	130157209	1.000000	0.71417	0.625000	0.29200	0.998000	0.95712	7.644000	0.83416	2.724000	0.93272	0.561000	0.74099	GAT		0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			A	131117388	G	A	131117388	3	1	385	1	0	0	0	0	1	0	0	0	14531	1058	37	1	1415	1	SLC27A4	9	131117388	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09		131117388	10096043	31	20940											
ITGA8	8516	genome.wustl.edu	37	10	15647732	15647732	+	Missense_Mutation	SNP	G	G	A	rs150148399	byFrequency	TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr10:15647732G>A	ENST00000378076.3	-	19	2314	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	654					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGGTCTAGCCGACAGCTTCAA	0.388													G|||	2	0.000399361	0	0	5008	,	,		21803	0.001		0	False		,,,				2504	0.001															0			10						G	LEU/SER	0,4406		0,0,2203	103	91	95		1961	3.6	0.9	10	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA8	NM_003638.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	654/1064	15647732	1,13005	2203	4300	6503	15687738	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1961C>T	10.37:g.15647732G>A	ENSP00000367316:p.Ser654Leu		15687738	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.1	4.102635	0.76983	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.52754	0.65	5.51	3.63	0.41609	Integrin alpha-2 (1);	0.109041	0.64402	D	0.000004	T	0.56202	0.1969	M	0.80746	2.51	0.50313	D	0.999867	P;P	0.47034	0.865;0.889	B;P	0.47786	0.422;0.557	T	0.59915	-0.7364	10	0.59425	D	0.04	.	11.0103	0.47659	0.0697:0.1299:0.8004:0.0	.	639;654	F5H818;P53708	.;ITA8_HUMAN	L	654;639	ENSP00000367316:S654L	ENSP00000367316:S654L	S	-	2	0	ITGA8	15687738	1.000000	0.71417	0.893000	0.35052	0.923000	0.55619	6.672000	0.74477	0.682000	0.31407	-0.136000	0.14681	TCG		0.388	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		A	15647732	G	A	15647732	3	1	385	1	0	0	0	0	1	0	0	0	7882	1059	37	1	1278	1	ITGA8	10	15647732	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09		15647732	119887015	32	20941											
ZNF33B	7582	genome.wustl.edu	37	10	43088068	43088068	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr10:43088068T>C	ENST00000359467.3	-	5	2444	c.2330A>G	c.(2329-2331)tAt>tGt	p.Y777C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	777					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AATTCATTCATAAGGTTTTTC	0.413																																					Melanoma(137;1247 1767 16772 25727 43810)											0			10											103	99	100					10																	43088068		2203	4300	6503	42408074	SO:0001583	missense	7582			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2330A>G	10.37:g.43088068T>C	ENSP00000352444:p.Tyr777Cys		42408074	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160258	0.38119	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.19938	2.11	2.5	-3.01	0.05463	.	.	.	.	.	T	0.22437	0.0541	M	0.83012	2.62	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41034	-0.9531	9	0.87932	D	0	.	3.2401	0.06778	0.3565:0.3741:0.0:0.2693	.	777	Q06732	ZN33B_HUMAN	C	777;743	ENSP00000352444:Y777C	ENSP00000352444:Y777C	Y	-	2	0	ZNF33B	42408074	0.001000	0.12720	0.000000	0.03702	0.574000	0.36063	-0.273000	0.08548	-0.750000	0.04740	-0.970000	0.02610	TAT		0.413	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		C	43088068	T	C	43088068	3	2	385	1	0	0	0	0	1	0	0	0	17855	1406	49	4	10	4	ZNF33B	10	43088068	Missense_Mutation	SNP	T	TCGA-36-2533-01A-01D-1526-09	27440336	43088068	92446679	33	20942											
PDHX	8050	genome.wustl.edu	37	11	34978943	34978943	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr11:34978943A>G	ENST00000227868.4	+	4	439	c.355A>G	c.(355-357)Agt>Ggt	p.S119G	PDHX_ENST00000448838.3_Missense_Mutation_p.S104G|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	119	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TGAAGAAGGAAGTAAAAATAT	0.368																																																0			11											52	56	54					11																	34978943		2202	4298	6500	34935519	SO:0001583	missense	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.355A>G	11.37:g.34978943A>G	ENSP00000227868:p.Ser119Gly		34935519	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046174	0.75846	.	.	ENSG00000110435	ENST00000533550;ENST00000448838;ENST00000227868;ENST00000533262	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.83	-1.83	0.07833	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.456897	0.26166	N	0.025942	T	0.58047	0.2095	L	0.48218	1.51	0.80722	D	1	P;P	0.46706	0.783;0.883	P;P	0.59643	0.582;0.861	T	0.56703	-0.7935	10	0.72032	D	0.01	-5.2322	5.1162	0.14834	0.4747:0.0:0.3407:0.1846	.	104;119	E9PB14;O00330	.;ODPX_HUMAN	G	59;104;119;92	ENSP00000431281:S59G;ENSP00000389404:S104G;ENSP00000227868:S119G;ENSP00000432277:S92G	ENSP00000227868:S119G	S	+	1	0	PDHX	34935519	1.000000	0.71417	0.992000	0.48379	0.881000	0.50899	1.949000	0.40313	-0.197000	0.10350	0.533000	0.62120	AGT		0.368	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		G	34978943	A	G	34978943	3	3	385	1	0	0	0	0	1	0	0	0	11667	72	3	4	488	4	PDHX	11	34978943	Missense_Mutation	SNP	A	TCGA-36-2533-01A-01D-1526-09		34978943	100027573	34	20943											
OR5B2	390190	genome.wustl.edu	37	11	58190471	58190471	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr11:58190471C>G	ENST00000302581.2	-	1	315	c.264G>C	c.(262-264)aaG>aaC	p.K88N		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGAGATGACCTTGTCTCCTC	0.493																																																0			11											142	121	128					11																	58190471		2201	4295	6496	57947047	SO:0001583	missense	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.264G>C	11.37:g.58190471C>G	ENSP00000303076:p.Lys88Asn		57947047	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	C	2.172	-0.389629	0.04932	.	.	ENSG00000172365	ENST00000302581	T	0.38240	1.15	3.8	-0.388	0.12459	GPCR, rhodopsin-like superfamily (1);	0.424851	0.17055	U	0.188786	T	0.20292	0.0488	L	0.28556	0.865	0.09310	N	1	B	0.17852	0.024	B	0.21151	0.033	T	0.12604	-1.0541	10	0.33940	T	0.23	-2.8255	3.4616	0.07535	0.3006:0.414:0.0:0.2855	.	88	Q96R09	OR5B2_HUMAN	N	88	ENSP00000303076:K88N	ENSP00000303076:K88N	K	-	3	2	OR5B2	57947047	0.000000	0.05858	0.034000	0.17996	0.068000	0.16541	-7.742000	0.00030	0.059000	0.16252	0.645000	0.84053	AAG		0.493	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		G	58190471	C	G	58190471	3	3	385	1	0	0	0	0	1	0	0	0	11150	680	24	3	669	3	OR5B2	11	58190471	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	23211528	58190471	76816045	35	20944											
TBC1D10C	374403	genome.wustl.edu	37	11	67174357	67174357	+	Missense_Mutation	SNP	C	C	G	rs142410416	byFrequency	TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr11:67174357C>G	ENST00000542590.1	+	7	722	c.708C>G	c.(706-708)caC>caG	p.H236Q	TBC1D10C_ENST00000526387.1_Intron|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.H236Q			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	236	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGCTTCCGCACGTGCACAAGC	0.697																																																0			11											63	70	68					11																	67174357		2200	4294	6494	66930933	SO:0001583	missense	374403			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.708C>G	11.37:g.67174357C>G	ENSP00000443654:p.His236Gln		66930933	G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333331	0.11013	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.03772	3.81;3.81	3.87	-7.75	0.01236	Rab-GAP/TBC domain (5);	0.174739	0.27735	N	0.018066	T	0.01287	0.0042	N	0.03983	-0.305	0.09310	N	0.999997	B	0.09022	0.002	B	0.10450	0.005	T	0.32613	-0.9900	10	0.19590	T	0.45	.	1.5337	0.02541	0.1764:0.1421:0.2463:0.4351	.	236	Q8IV04	TB10C_HUMAN	Q	236	ENSP00000310193:H236Q;ENSP00000443654:H236Q	ENSP00000310193:H236Q	H	+	3	2	TBC1D10C	66930933	0.000000	0.05858	0.037000	0.18230	0.731000	0.41821	-1.890000	0.01613	-2.113000	0.00833	0.455000	0.32223	CAC		0.697	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		G	67174357	C	G	67174357	3	3	385	1	0	0	0	0	1	0	0	0	15600	535	19	3	734	3	TBC1D10C	11	67174357	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	8983886	67174357	67832159	36	20945											
ASAM	79827	genome.wustl.edu	37	11	122944324	122944324	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr11:122944324C>A	ENST00000448775.2	-	7	1320	c.980G>T	c.(979-981)gGg>gTg	p.G327V	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	327					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						GGTGGCCAGCCCTGGCTGGGG	0.582																																																0			11											121	116	118					11																	122944324		2202	4299	6501	122449534	SO:0001583	missense	79827			BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24039	protein-coding gene	gene with protein product	"adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule"	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.980G>T	11.37:g.122944324C>A	ENSP00000405577:p.Gly327Val		122449534		Missense_Mutation	SNP	ENST00000448775.2	37	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042217	0.55003	.	.	ENSG00000166250	ENST00000448775	T	0.74421	-0.84	5.44	5.44	0.79542	.	0.284501	0.31554	N	0.007448	T	0.69602	0.3129	N	0.03608	-0.345	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	T	0.73360	-0.4007	10	0.32370	T	0.25	.	14.7531	0.69543	0.0:1.0:0.0:0.0	.	327	Q9H6B4	CLMP_HUMAN	V	327	ENSP00000405577:G327V	ENSP00000405577:G327V	G	-	2	0	CLMP	122449534	1.000000	0.71417	0.993000	0.49108	0.764000	0.43329	2.096000	0.41738	2.559000	0.86315	0.655000	0.94253	GGG		0.582	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		A	122944324	C	A	122944324	3	1	385	1	0	0	0	0	1	0	0	0	1009	623	22	3	145	3	ASAM	11	122944324	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	55769967	122944324	12062192	37	20946											
C12orf57	113246	genome.wustl.edu	37	12	7054969	7054969	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:7054969G>A	ENST00000229281.5	+	3	364	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	C12orf57_ENST00000542222.1_3'UTR|U47924.31_ENST00000607421.1_RNA|PTPN6_ENST00000447931.2_5'Flank|RNU7-1_ENST00000458811.1_RNA|PTPN6_ENST00000399448.1_5'Flank|C12orf57_ENST00000540506.2_Missense_Mutation_p.E54K|C12orf57_ENST00000537087.1_Missense_Mutation_p.E60K	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57	89						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						CAAGTCCTACGAAGCCCAGGA	0.602																																																0			12											91	71	78					12																	7054969		2203	4300	6503	6925230	SO:0001583	missense	113246			U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.265G>A	12.37:g.7054969G>A	ENSP00000229281:p.Glu89Lys		6925230	B2R4Q6	Missense_Mutation	SNP	ENST00000229281.5	37	CCDS8571.1	.	.	.	.	.	.	.	.	.	.	G	37	6.020117	0.97211	.	.	ENSG00000111678	ENST00000545581;ENST00000537087;ENST00000229281	T;D;T	0.81739	-1.29;-1.53;-1.29	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	P	0.61132	0.884	D	0.88589	0.3142	10	0.72032	D	0.01	-7.3248	17.1818	0.86857	0.0:0.0:1.0:0.0	.	89	Q99622	C10_HUMAN	K	89;60;89	ENSP00000440602:E89K;ENSP00000440937:E60K;ENSP00000229281:E89K	ENSP00000229281:E89K	E	+	1	0	C12orf57	6925230	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.605000	0.98321	2.567000	0.86603	0.462000	0.41574	GAA		0.602	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425		A	7054969	G	A	7054969	3	1	385	1	0	0	0	0	1	0	0	0	1701	1059	37	1	275	1	C12orf57	12	7054969	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09		7054969	126796926	38	20947											
LRRK2	120892	genome.wustl.edu	37	12	40645170	40645170	+	Missense_Mutation	SNP	C	C	G	rs144975499	byFrequency	TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:40645170C>G	ENST00000298910.7	+	9	1153	c.1095C>G	c.(1093-1095)caC>caG	p.H365Q	LRRK2_ENST00000343742.2_Missense_Mutation_p.H365Q	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	365					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAACAAGCACGTGCAGGTAG	0.363											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			12											72	77	75					12																	40645170		2203	4300	6503	38931437	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1095C>G	12.37:g.40645170C>G	ENSP00000298910:p.His365Gln	895	38931437	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	2.384	-0.341472	0.05243	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.32988	1.43;1.43	5.51	-3.3	0.05003	Armadillo-like helical (1);Armadillo-type fold (1);	0.335440	0.31949	N	0.006818	T	0.18923	0.0454	L	0.36672	1.1	0.25144	N	0.990472	B	0.06786	0.001	B	0.06405	0.002	T	0.17592	-1.0364	10	0.25106	T	0.35	.	10.9703	0.47436	0.0:0.4811:0.0:0.5189	.	365	Q5S007	LRRK2_HUMAN	Q	365	ENSP00000341930:H365Q;ENSP00000298910:H365Q	ENSP00000298910:H365Q	H	+	3	2	LRRK2	38931437	0.121000	0.22262	0.965000	0.40720	0.253000	0.25986	-0.981000	0.03766	-0.803000	0.04415	-1.105000	0.02106	CAC		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40645170	C	G	40645170	3	3	385	1	0	0	0	0	1	0	0	0	9033	535	19	3	1129	3	LRRK2	12	40645170	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	33590201	40645170	93206725	39	20948											
KRT85	3891	genome.wustl.edu	37	12	52754812	52754812	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:52754812C>G	ENST00000257901.3	-	9	1424	c.1349G>C	c.(1348-1350)gGt>gCt	p.G450A	KRT85_ENST00000544265.1_Missense_Mutation_p.G238A	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	450	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGACTCCACCACGGGAGCT	0.652																																																0			12											22	22	22					12																	52754812		2201	4300	6501	51041079	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1349G>C	12.37:g.52754812C>G	ENSP00000257901:p.Gly450Ala		51041079	Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605553	0.28623	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.83163	-1.69;-1.62	5.01	4.1	0.47936	.	0.094050	0.47093	D	0.000243	D	0.86310	0.5902	M	0.78456	2.415	0.09310	N	1	D	0.61080	0.989	P	0.51999	0.687	T	0.79610	-0.1732	10	0.54805	T	0.06	.	11.1875	0.48666	0.0:0.8149:0.1851:0.0	.	450	P78386	KRT85_HUMAN	A	450;238	ENSP00000257901:G450A;ENSP00000440240:G238A	ENSP00000257901:G450A	G	-	2	0	KRT85	51041079	0.757000	0.28394	0.018000	0.16275	0.161000	0.22273	3.857000	0.55972	1.300000	0.44818	0.655000	0.94253	GGT		0.652	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		G	52754812	C	G	52754812	3	3	385	1	0	0	0	0	1	0	0	0	8499	507	18	3	178	3	KRT85	12	52754812	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	12109642	52754812	81097083	40	20949											
KRT76	51350	genome.wustl.edu	37	12	53170780	53170780	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:53170780C>A	ENST00000332411.2	-	1	349	c.296G>T	c.(295-297)gGg>gTg	p.G99V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	99	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						atagctgcccccaaagccacc	0.627																																																0			12											215	243	234					12																	53170780		2203	4300	6503	51457047	SO:0001583	missense	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.296G>T	12.37:g.53170780C>A	ENSP00000330101:p.Gly99Val		51457047	B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.56	1.975673	0.34848	.	.	ENSG00000185069	ENST00000332411	D	0.91295	-2.82	4.61	4.61	0.57282	.	0.000000	0.32175	N	0.006474	D	0.96219	0.8767	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.96309	0.9227	10	0.56958	D	0.05	.	18.7492	0.91807	0.0:1.0:0.0:0.0	.	99	Q01546	K22O_HUMAN	V	99	ENSP00000330101:G99V	ENSP00000330101:G99V	G	-	2	0	KRT76	51457047	0.297000	0.24408	0.992000	0.48379	0.269000	0.26545	2.872000	0.48467	2.844000	0.97970	0.650000	0.86243	GGG		0.627	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		A	53170780	C	A	53170780	3	1	385	1	0	0	0	0	1	0	0	0	8489	623	22	3	1656	3	KRT76	12	53170780	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	415968	53170780	80681115	41	20950											
GPR109A	338442	genome.wustl.edu	37	12	123186799	123186799	+	Silent	SNP	C	C	G	rs201282262		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:123186799C>G	ENST00000328880.5	-	1	1091	c.1032G>C	c.(1030-1032)gcG>gcC	p.A344A	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	344					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TGGCCATTAACGCCTCTGGAG	0.562																																																0			12											162	157	159					12																	123186799		2203	4300	6503	121752752	SO:0001819	synonymous_variant	338442			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.1032G>C	12.37:g.123186799C>G			121752752	A0PJL5|A7LGG3	Silent	SNP	ENST00000328880.5	37	CCDS9235.1																																																																																				0.562	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		G	123186799	C	G	123186799	2	3	385	1	0	0	0	0	0	0	0	1	6625	523	19	3		3	GPR109A	12	123186799	Silent	SNP	C	TCGA-36-2533-01A-01D-1526-09	70016019	123186799	10665096	42	20951											
ENOX1	55068	genome.wustl.edu	37	13	43872524	43872524	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr13:43872524C>A	ENST00000261488.6	-	12	1981	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H	ENOX1_ENST00000412891.1_Missense_Mutation_p.Q468H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	468					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ACTGCAGTTGCTGGTCCTTGG	0.448																																																0			13											171	143	152					13																	43872524		2203	4300	6503	42770524	SO:0001583	missense	55068			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1404G>T	13.37:g.43872524C>A	ENSP00000261488:p.Gln468His		42770524	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189710	0.57909	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.48836	0.8;0.8	4.93	4.07	0.47477	.	0.278230	0.36234	N	0.002702	T	0.44891	0.1315	L	0.61218	1.895	0.80722	D	1	P	0.52316	0.952	B	0.41510	0.359	T	0.49969	-0.8882	10	0.62326	D	0.03	-25.2707	11.1826	0.48638	0.0:0.8479:0.0:0.1521	.	468	Q8TC92	ENOX1_HUMAN	H	468	ENSP00000261488:Q468H;ENSP00000415054:Q468H	ENSP00000261488:Q468H	Q	-	3	2	ENOX1	42770524	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.766000	0.38491	1.168000	0.42723	0.655000	0.94253	CAG		0.448	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		A	43872524	C	A	43872524	3	1	385	1	0	0	0	0	1	0	0	0	5126	796	28	3	551	3	ENOX1	13	43872524	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09		43872524	71297354	43	20952											
FAM124A	220108	genome.wustl.edu	37	13	51825732	51825732	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr13:51825732C>G	ENST00000322475.8	+	3	364	c.229C>G	c.(229-231)Ccg>Gcg	p.P77A	FAM124A_ENST00000280057.6_Missense_Mutation_p.P113A	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	77										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCCCGACCTCCCGCTGTTCCG	0.692																																																0			13											17	17	17					13																	51825732		2201	4292	6493	50723733	SO:0001583	missense	220108			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.229C>G	13.37:g.51825732C>G	ENSP00000324625:p.Pro77Ala		50723733	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210361	0.39003	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.39997	1.05;1.05	5.79	4.95	0.65309	.	0.120297	0.56097	D	0.000023	T	0.28001	0.0690	N	0.22421	0.69	0.30757	N	0.744452	P;B;B	0.46142	0.873;0.205;0.167	B;B;B	0.36464	0.225;0.053;0.079	T	0.21177	-1.0253	10	0.42905	T	0.14	-27.601	13.8997	0.63794	0.0:0.9273:0.0:0.0727	.	77;113;77	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	A	77;113	ENSP00000324625:P77A;ENSP00000280057:P113A	ENSP00000280057:P113A	P	+	1	0	FAM124A	50723733	1.000000	0.71417	0.275000	0.24674	0.705000	0.40729	5.324000	0.65863	1.458000	0.47871	0.655000	0.94253	CCG		0.692	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		G	51825732	C	G	51825732	3	3	385	1	0	0	0	0	1	0	0	0	5425	623	22	3	351	3	FAM124A	13	51825732	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	7953208	51825732	63344146	44	20953											
PNN	5411	genome.wustl.edu	37	14	39650026	39650026	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr14:39650026G>C	ENST00000216832.4	+	9	1180	c.1113G>C	c.(1111-1113)gaG>gaC	p.E371D	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	371	Glu-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		aggaaactgaggtaagggaaa	0.433																																																0			14											114	93	100					14																	39650026		2203	4300	6503	38719777	SO:0001583	missense	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1113G>C	14.37:g.39650026G>C	ENSP00000216832:p.Glu371Asp		38719777	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584449	0.46110	.	.	ENSG00000100941	ENST00000216832	T	0.37584	1.19	5.9	5.0	0.66597	.	0.204839	0.50627	D	0.000108	T	0.39036	0.1063	M	0.75615	2.305	0.80722	D	1	B	0.20780	0.048	B	0.24541	0.054	T	0.20974	-1.0259	10	0.30078	T	0.28	-1.6063	11.4077	0.49908	0.14:0.0:0.86:0.0	.	371	Q9H307	PININ_HUMAN	D	371	ENSP00000216832:E371D	ENSP00000216832:E371D	E	+	3	2	PNN	38719777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.369000	0.52365	1.470000	0.48102	0.650000	0.86243	GAG		0.433	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		C	39650026	G	C	39650026	3	2	385	1	0	0	0	0	1	0	0	0	12160	991	35	3	1147	3	PNN	14	39650026	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09		39650026	67699514	45	20954											
THBS1	7057	genome.wustl.edu	37	15	39885816	39885816	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr15:39885816C>A	ENST00000260356.5	+	19	3379	c.3214C>A	c.(3214-3216)Cct>Act	p.P1072T	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1072	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CACCACAGGGCCTGGCGAGCA	0.582																																																0			15											106	106	106					15																	39885816		2200	4297	6497	37673108	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3214C>A	15.37:g.39885816C>A	ENSP00000260356:p.Pro1072Thr		37673108	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302432	0.60195	.	.	ENSG00000137801	ENST00000260356	D	0.97772	-4.53	5.77	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.35772	N	0.002990	D	0.97829	0.9287	L	0.42744	1.35	0.58432	D	0.999999	B;D	0.89917	0.006;1.0	B;D	0.91635	0.045;0.999	D	0.97495	1.0056	10	0.31617	T	0.26	-10.3622	16.6959	0.85335	0.0:0.8703:0.1297:0.0	.	987;1072	B4E3J7;P07996	.;TSP1_HUMAN	T	1072	ENSP00000260356:P1072T	ENSP00000260356:P1072T	P	+	1	0	THBS1	37673108	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.814000	0.86154	1.382000	0.46385	0.655000	0.94253	CCT		0.582	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		A	39885816	C	A	39885816	3	1	385	1	0	0	0	0	1	0	0	0	15853	739	26	3	3284	3	THBS1	15	39885816	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09		39885816	62645576	46	20955											
MAPK6	5597	genome.wustl.edu	37	15	52356635	52356635	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr15:52356635T>A	ENST00000261845.5	+	6	2411	c.1604T>A	c.(1603-1605)aTt>aAt	p.I535N	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	535					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GCAGGAACTATTCAGCTTAGT	0.388																																																0			15											25	27	27					15																	52356635		2188	4285	6473	50143927	SO:0001583	missense	5597			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1604T>A	15.37:g.52356635T>A	ENSP00000261845:p.Ile535Asn		50143927	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026406	0.54683	.	.	ENSG00000069956	ENST00000261845	T	0.52526	0.66	5.27	5.27	0.74061	.	0.044406	0.85682	D	0.000000	T	0.40423	0.1116	L	0.27053	0.805	0.80722	D	1	P	0.35844	0.524	B	0.38194	0.267	T	0.44345	-0.9334	10	0.87932	D	0	-11.6698	15.3381	0.74273	0.0:0.0:0.0:1.0	.	535	Q16659	MK06_HUMAN	N	535	ENSP00000261845:I535N	ENSP00000261845:I535N	I	+	2	0	MAPK6	50143927	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.829000	0.86735	2.052000	0.61016	0.444000	0.29173	ATT		0.388	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		A	52356635	T	A	52356635	3	1	385	1	0	0	0	0	1	0	0	0	9281	1493	52	5	1622	5	MAPK6	15	52356635	Missense_Mutation	SNP	T	TCGA-36-2533-01A-01D-1526-09	12470819	52356635	50174757	47	20956											
SRRM2	23524	genome.wustl.edu	37	16	2815985	2815985	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:2815985G>A	ENST00000301740.8	+	11	6005	c.5456G>A	c.(5455-5457)gGt>gAt	p.G1819D		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1819	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGAGGCTCTGGTTATCACTCA	0.632																																																0			16											38	45	43					16																	2815985		2198	4300	6498	2755986	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5456G>A	16.37:g.2815985G>A	ENSP00000301740:p.Gly1819Asp		2755986	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615886	0.28801	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.34472	1.36	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000008	T	0.40670	0.1126	N	0.08118	0	0.38972	D	0.958778	D	0.89917	1.0	D	0.87578	0.998	T	0.53322	-0.8455	10	0.72032	D	0.01	-13.1113	14.803	0.69929	0.0:0.0:1.0:0.0	.	1819	Q9UQ35	SRRM2_HUMAN	D	1819;1819;1071	ENSP00000301740:G1819D	ENSP00000301740:G1819D	G	+	2	0	SRRM2	2755986	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.387000	0.66243	2.562000	0.86427	0.650000	0.86243	GGT		0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2815985	G	A	2815985	3	1	385	1	0	0	0	0	1	0	0	0	15171	1261	44	2	5494	2	SRRM2	16	2815985	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09		2815985	87538768	48	20957											
ABCC6	368	genome.wustl.edu	37	16	16267249	16267249	+	Silent	SNP	T	T	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:16267249T>G	ENST00000205557.7	-	21	2708	c.2679A>C	c.(2677-2679)tcA>tcC	p.S893S		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	893					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCTCAGGGACTGACTTGATGG	0.532																																																0			16											129	114	119					16																	16267249		2197	4300	6497	16174750	SO:0001819	synonymous_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2679A>C	16.37:g.16267249T>G			16174750	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	T	9.136	1.012540	0.19277	.	.	ENSG00000091262	ENST00000456970	D	0.90563	-2.69	4.54	0.812	0.18744	.	.	.	.	.	D	0.88130	0.6354	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.79936	-0.1593	6	0.87932	D	0	.	5.4139	0.16363	0.0:0.1125:0.4651:0.4224	.	.	.	.	P	835	ENSP00000405002:Q835P	ENSP00000405002:Q835P	Q	-	2	0	ABCC6	16174750	0.000000	0.05858	0.010000	0.14722	0.038000	0.13279	-0.289000	0.08365	0.135000	0.18707	-0.504000	0.04507	CAG		0.532	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			G	16267249	T	G	16267249	2	3	385	1	0	0	0	0	0	0	0	1	57	1567	55	5		5	ABCC6	16	16267249	Silent	SNP	T	TCGA-36-2533-01A-01D-1526-09	13451264	16267249	74087504	49	20958											
RBBP6	5930	genome.wustl.edu	37	16	24581309	24581309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:24581309C>T	ENST00000319715.4	+	17	3730	c.3298C>T	c.(3298-3300)Caa>Taa	p.Q1100*	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.Q1066*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1100	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAGAACACCAAGAAACAAA	0.388																																																0			16											45	42	43					16																	24581309		2197	4298	6495	24488810	SO:0001587	stop_gained	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3298C>T	16.37:g.24581309C>T	ENSP00000317872:p.Gln1100*		24488810	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Nonsense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	43	10.379446	0.99394	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	.	.	.	5.66	5.66	0.87406	.	0.105878	0.42053	D	0.000779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-14.3855	19.7362	0.96205	0.0:1.0:0.0:0.0	.	.	.	.	X	1100;1066	.	ENSP00000317872:Q1100X	Q	+	1	0	RBBP6	24488810	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	4.673000	0.61604	2.661000	0.90470	0.655000	0.94253	CAA		0.388	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		T	24581309	C	T	24581309	4	4	385	1	0	0	0	0	0	1	0	0	13106	595	21	2	3418	2	RBBP6	16	24581309	Nonsense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	8314060	24581309	65773444	50	20959											
IL21R	50615	genome.wustl.edu	37	16	27457369	27457369	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:27457369T>G	ENST00000337929.3	+	8	1300	c.827T>G	c.(826-828)tTc>tGc	p.F276C	IL21R_ENST00000395754.4_Missense_Mutation_p.F276C|IL21R_ENST00000395755.1_Missense_Mutation_p.F276C|IL21R_ENST00000564583.1_3'UTR|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.F276C	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	276					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCTGAGCGGTTCTTCATGCCC	0.637			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16											62	56	58					16																	27457369		2197	4300	6497	27364870	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.827T>G	16.37:g.27457369T>G	ENSP00000338010:p.Phe276Cys		27364870	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032377	0.35893	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.45668	0.89;0.89;0.89	4.38	4.38	0.52667	.	0.061042	0.64402	D	0.000002	T	0.60830	0.2299	M	0.76328	2.33	0.43421	D	0.995577	D	0.89917	1.0	D	0.91635	0.999	T	0.61647	-0.7020	10	0.44086	T	0.13	-24.5038	10.0061	0.41957	0.0:0.0:0.0:1.0	.	276	Q9HBE5	IL21R_HUMAN	C	276	ENSP00000338010:F276C;ENSP00000379104:F276C;ENSP00000379103:F276C	ENSP00000338010:F276C	F	+	2	0	IL21R	27364870	1.000000	0.71417	0.851000	0.33527	0.015000	0.08874	4.301000	0.59086	1.618000	0.50286	0.459000	0.35465	TTC		0.637	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		G	27457369	T	G	27457369	3	3	385	1	0	0	0	0	1	0	0	0	7671	1783	62	5	853	5	IL21R	16	27457369	Missense_Mutation	SNP	T	TCGA-36-2533-01A-01D-1526-09	2876060	27457369	62897384	51	20960											
ORAI3	93129	genome.wustl.edu	37	16	30965038	30965038	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:30965038C>A	ENST00000318663.4	+	2	985	c.761C>A	c.(760-762)cCc>cAc	p.P254H	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	254					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						ATCATGGTACCCGTGGGGCTC	0.622											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			16											54	61	58					16																	30965038		2197	4300	6497	30872539	SO:0001583	missense	93129			BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.761C>A	16.37:g.30965038C>A	ENSP00000322249:p.Pro254His	821	30872539	Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	37	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.744694	0.89663	.	.	ENSG00000175938	ENST00000318663	T	0.47528	0.84	5.64	5.64	0.86602	.	0.000000	0.56097	D	0.000030	T	0.69663	0.3136	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71849	-0.4468	10	0.87932	D	0	-9.0843	18.5037	0.90890	0.0:1.0:0.0:0.0	.	254	Q9BRQ5	ORAI3_HUMAN	H	254	ENSP00000322249:P254H	ENSP00000322249:P254H	P	+	2	0	ORAI3	30872539	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.576000	0.67437	2.673000	0.90976	0.645000	0.84053	CCC		0.622	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		A	30965038	C	A	30965038	3	1	385	1	0	0	0	0	1	0	0	0	11259	623	22	3	767	3	ORAI3	16	30965038	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	3507669	30965038	59389715	52	20961											
NETO2	81831	genome.wustl.edu	37	16	47117252	47117252	+	Silent	SNP	T	T	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:47117252T>C	ENST00000562435.1	-	9	1842	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K	NETO2_ENST00000303155.5_Silent_p.K479K	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	486					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CATGTCCCTGTTTGAAAGTGT	0.453										HNSCC(25;0.065)																																						0			16											180	172	175					16																	47117252		2203	4300	6503	45674753	SO:0001819	synonymous_variant	81831			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1458A>G	16.37:g.47117252T>C			45674753	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Silent	SNP	ENST00000562435.1	37	CCDS10727.1																																																																																				0.453	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		C	47117252	T	C	47117252	2	2	385	1	0	0	0	0	0	0	0	1	10340	1722	60	4		4	NETO2	16	47117252	Silent	SNP	T	TCGA-36-2533-01A-01D-1526-09	16152214	47117252	43237501	53	20962											
HYDIN	54768	genome.wustl.edu	37	16	71196573	71196573	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:71196573C>T	ENST00000393567.2	-	6	727	c.577G>A	c.(577-579)Gct>Act	p.A193T	HYDIN_ENST00000448691.1_Missense_Mutation_p.A193T|HYDIN_ENST00000538248.1_Missense_Mutation_p.A220T|HYDIN_ENST00000541601.1_Missense_Mutation_p.A210T|HYDIN_ENST00000448089.2_Missense_Mutation_p.A193T|HYDIN_ENST00000321489.5_Missense_Mutation_p.A193T|HYDIN_ENST00000393550.2_Missense_Mutation_p.A193T|HYDIN_ENST00000288168.10_Missense_Mutation_p.A210T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	193					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCCCCTCTAGCTTTGATGGGT	0.423																																																0			16											8	7	7					16																	71196573		2029	4112	6141	69754074	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.577G>A	16.37:g.71196573C>T	ENSP00000377197:p.Ala193Thr		69754074	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686528	0.88639	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.29142	4.57;2.58;2.56;2.56;2.58;2.56;2.24;1.58	5.01	5.01	0.66863	.	0.000000	0.31031	U	0.008390	T	0.54791	0.1880	M	0.64170	1.965	0.50313	D	0.999867	P;P;P;P;D	0.76494	0.796;0.658;0.845;0.488;0.999	P;B;P;B;D	0.83275	0.469;0.322;0.58;0.265;0.996	T	0.56715	-0.7933	10	0.62326	D	0.03	.	18.2755	0.90081	0.0:1.0:0.0:0.0	.	220;210;210;193;193	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	T	193;193;193;193;193;220;210;210;193	ENSP00000377197:A193T;ENSP00000398544:A193T;ENSP00000394826:A193T;ENSP00000314736:A193T;ENSP00000444970:A220T;ENSP00000437341:A210T;ENSP00000288168:A210T;ENSP00000377181:A193T	ENSP00000288168:A210T	A	-	1	0	HYDIN	69754074	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.682000	0.74528	2.494000	0.84150	0.655000	0.94253	GCT		0.423	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	71196573	C	T	71196573	3	4	385	1	0	0	0	0	1	0	0	0	7467	797	28	2	15121	2	HYDIN	16	71196573	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	24079321	71196573	19158180	54	20963											
GLG1	2734	genome.wustl.edu	37	16	74640904	74640904	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:74640904A>C	ENST00000422840.2	-	1	88	c.89T>G	c.(88-90)cTc>cGc	p.L30R	GLG1_ENST00000447066.2_Missense_Mutation_p.L30R|GLG1_ENST00000205061.5_Missense_Mutation_p.L30R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	30					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTGGCCGGGGAGTTTCTCGGC	0.706																																																0			16											5	7	6					16																	74640904		1817	3665	5482	73198405	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.89T>G	16.37:g.74640904A>C	ENSP00000405984:p.Leu30Arg		73198405	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	A	9.895	1.205274	0.22205	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	4.77	-2.19	0.07015	.	1.295500	0.05931	N	0.635179	T	0.16428	0.0395	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16867	-1.0388	9	0.15952	T	0.53	.	1.4796	0.02433	0.3203:0.1509:0.0889:0.4399	.	30;30;30	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	R	30	.	ENSP00000205061:L30R	L	-	2	0	GLG1	73198405	0.000000	0.05858	0.000000	0.03702	0.510000	0.34073	0.306000	0.19279	-0.667000	0.05303	0.379000	0.24179	CTC		0.706	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		C	74640904	A	C	74640904	3	2	385	1	0	0	0	0	1	0	0	0	6436	304	11	5	3634	5	GLG1	16	74640904	Missense_Mutation	SNP	A	TCGA-36-2533-01A-01D-1526-09	3444331	74640904	15713849	55	20964											
TP53	7157	genome.wustl.edu	37	17	7579313	7579313	+	Splice_Site	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:7579313G>A	ENST00000269305.4	-	4	563	c.374C>T	c.(373-375)aCg>aTg	p.T125M	TP53_ENST00000445888.2_Splice_Site_p.T125M|TP53_ENST00000455263.2_Splice_Site_p.T125M|TP53_ENST00000359597.4_Splice_Site_p.T125M|TP53_ENST00000413465.2_Splice_Site_p.T125M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.T125M	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125M(16)|p.0?(8)|p.T125K(6)|p.T125R(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	GCAACTGACCGTGCAAGTCAC	0.542		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"	42	Substitution - Missense(25)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(1)	large_intestine(8)|upper_aerodigestive_tract(7)|lung(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|central_nervous_system(3)|urinary_tract(3)|breast(2)|stomach(1)|liver(1)|pancreas(1)|prostate(1)	17											66	62	63					17																	7579313		2203	4300	6503	7520038	SO:0001630	splice_region_variant	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.375+1C>T	17.37:g.7579313G>A			7520038	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	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430623	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	4.75	4.75	0.60458	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	0.99743	0.9898	M	0.70787	2.145	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;0.997;1.0	D;D;D;P;D;D;D	0.97110	1.0;0.956;0.986;0.868;0.985;0.981;1.0	D	0.96893	0.9654	10	0.87932	D	0	-16.188	15.6419	0.77012	0.0:0.0:1.0:0.0	.	86;125;125;125;125;125;125	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	125;125;125;125;125;125;114;125;125	ENSP00000410739:T125M;ENSP00000352610:T125M;ENSP00000269305:T125M;ENSP00000398846:T125M;ENSP00000391127:T125M;ENSP00000391478:T125M;ENSP00000424104:T125M;ENSP00000426252:T125M	ENSP00000269305:T125M	T	-	2	0	TP53	7520038	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.798000	0.85924	2.630000	0.89119	0.655000	0.94253	ACG		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	A	7579313	G	A	7579313	5	1	385	1	0	0	0	0	0	0	1	0	16381	1159	40	1	928	1	TP53	17	7579313	Splice_Site	SNP	G	TCGA-36-2533-01A-01D-1526-09		7579313	73615897	56	20965											
MYH8	4626	genome.wustl.edu	37	17	10304450	10304450	+	Missense_Mutation	SNP	C	C	T	rs140112749		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:10304450C>T	ENST00000403437.2	-	25	3261	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1056					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1056Q(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCCAGTTTCCGCTTTGCTCT	0.368									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							1	Substitution - Missense(1)	skin(1)	17						C	GLN/ARG	0,4406		0,0,2203	131	117	122		3167	5.5	1	17	dbSNP_134	122	1,8597	1.2+/-3.3	0,1,4298	no	missense	MYH8	NM_002472.2	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1056/1938	10304450	1,13003	2203	4299	6502	10245175	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3167G>A	17.37:g.10304450C>T	ENSP00000384330:p.Arg1056Gln		10245175	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977251	0.92982	0.0	1.16E-4	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.95205	-3.64	5.48	5.48	0.80851	.	0.000000	0.46442	U	0.000290	D	0.97885	0.9305	H	0.96080	3.765	0.54753	D	0.999982	D	0.69078	0.997	P	0.56788	0.806	D	0.98693	1.0697	10	0.87932	D	0	.	19.5559	0.95347	0.0:1.0:0.0:0.0	.	1056	P13535	MYH8_HUMAN	Q	1056	ENSP00000384330:R1056Q	ENSP00000252173:R1056Q	R	-	2	0	MYH8	10245175	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.447000	0.80620	2.861000	0.98227	0.650000	0.86243	CGG		0.368	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10304450	C	T	10304450	3	4	385	1	0	0	0	0	1	0	0	0	10041	652	23	1	2710	1	MYH8	17	10304450	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	2725137	10304450	70890760	57	20966											
MYOCD	93649	genome.wustl.edu	37	17	12666922	12666922	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:12666922T>A	ENST00000343344.4	+	13	2778	c.2778T>A	c.(2776-2778)aaT>aaA	p.N926K	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.N974K			Q8IZQ8	MYCD_HUMAN	myocardin	926					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTGATCTCAATTTGAATTCTT	0.517																																																0			17											51	47	49					17																	12666922		2203	4300	6503	12607647	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2778T>A	17.37:g.12666922T>A	ENSP00000341835:p.Asn926Lys		12607647	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339010	0.60963	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.45668	0.89;0.89	6.08	2.7	0.31948	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.987	T	0.50625	-0.8806	10	0.52906	T	0.07	-33.6918	8.8228	0.35036	0.0:0.2889:0.0:0.7111	.	650;974;926	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	K	650;974;926;636	ENSP00000341835:N926K;ENSP00000400148:N636K	ENSP00000341835:N926K	N	+	3	2	MYOCD	12607647	0.998000	0.40836	0.983000	0.44433	0.956000	0.61745	0.489000	0.22387	0.195000	0.20347	0.533000	0.62120	AAT		0.517	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		A	12666922	T	A	12666922	3	1	385	1	0	0	0	0	1	0	0	0	10087	1490	52	5	2988	5	MYOCD	17	12666922	Missense_Mutation	SNP	T	TCGA-36-2533-01A-01D-1526-09	2362472	12666922	68528288	58	20967											
SSH2	85464	genome.wustl.edu	37	17	27963139	27963139	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:27963139C>A	ENST00000269033.3	-	14	2179	c.2028G>T	c.(2026-2028)atG>atT	p.M676I	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.M703I	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	676					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGTTCCTCCATCCTTGAAT	0.483																																																0			17											136	134	135					17																	27963139		2203	4300	6503	24987265	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2028G>T	17.37:g.27963139C>A	ENSP00000269033:p.Met676Ile		24987265	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778171	0.31502	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.35048	1.33;1.33	6.17	1.78	0.24846	.	0.891618	0.10161	N	0.708375	T	0.20981	0.0505	L	0.31294	0.92	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16217	-1.0410	10	0.14656	T	0.56	-5.5851	3.5176	0.07730	0.1085:0.5309:0.106:0.2546	.	703;676	F5H527;Q76I76	.;SSH2_HUMAN	I	676;703	ENSP00000269033:M676I;ENSP00000444743:M703I	ENSP00000269033:M676I	M	-	3	0	SSH2	24987265	0.772000	0.28567	1.000000	0.80357	0.982000	0.71751	0.015000	0.13355	0.922000	0.37019	0.655000	0.94253	ATG		0.483	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		A	27963139	C	A	27963139	3	1	385	1	0	0	0	0	1	0	0	0	15187	594	21	3	2251	3	SSH2	17	27963139	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	15296217	27963139	53232071	59	20968											
RSAD1	55316	genome.wustl.edu	37	17	48562147	48562147	+	Silent	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:48562147T>A	ENST00000258955.2	+	9	1339	c.1254T>A	c.(1252-1254)tcT>tcA	p.S418S		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	418					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCTGGACTCTCTCTTGCTGA	0.552																																																0			17											78	71	74					17																	48562147		2203	4300	6503	45917146	SO:0001819	synonymous_variant	55316			AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1254T>A	17.37:g.48562147T>A			45917146	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP	ENST00000258955.2	37	CCDS11569.1																																																																																				0.552	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		A	48562147	T	A	48562147	2	1	385	1	0	0	0	0	0	0	0	1	13697	1538	54	5		5	RSAD1	17	48562147	Silent	SNP	T	TCGA-36-2533-01A-01D-1526-09	20599008	48562147	32633063	60	20969											
ITGB4	3691	genome.wustl.edu	37	17	73733410	73733410	+	Silent	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:73733410G>A	ENST00000200181.3	+	17	2185	c.1998G>A	c.(1996-1998)gaG>gaA	p.E666E	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Silent_p.E666E|ITGB4_ENST00000450894.3_Silent_p.E666E|ITGB4_ENST00000579662.1_Silent_p.E666E|ITGB4_ENST00000339591.3_Silent_p.E666E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	666				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345). {ECO:0000305}.	amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCGAGGAGGTGGTGGTGC	0.672																																																0			17											48	50	49					17																	73733410		2198	4293	6491	71245005	SO:0001819	synonymous_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1998G>A	17.37:g.73733410G>A			71245005	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	CCDS11727.1																																																																																				0.672	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			A	73733410	G	A	73733410	2	1	385	1	0	0	0	0	0	0	0	1	7897	991	35	2		2	ITGB4	17	73733410	Silent	SNP	G	TCGA-36-2533-01A-01D-1526-09	25171263	73733410	7461800	61	20970											
FASN	2194	genome.wustl.edu	37	17	80053327	80053327	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:80053327C>T	ENST00000306749.2	-	3	367	c.149G>A	c.(148-150)cGg>cAg	p.R50Q		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	50	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTTGCCGGACCGCCGGGGCAG	0.652																																					Colon(59;314 1043 11189 28578 32273)											0			17											51	53	52					17																	80053327		2200	4300	6500	77646616	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.149G>A	17.37:g.80053327C>T	ENSP00000304592:p.Arg50Gln		77646616	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079019	0.94050	.	.	ENSG00000169710	ENST00000306749	T	0.29655	1.56	3.86	3.86	0.44501	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	U	0.000001	T	0.56572	0.1994	M	0.78223	2.4	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.65340	-0.6192	10	0.87932	D	0	-37.6349	15.7949	0.78401	0.0:1.0:0.0:0.0	.	50	P49327	FAS_HUMAN	Q	50	ENSP00000304592:R50Q	ENSP00000304592:R50Q	R	-	2	0	FASN	77646616	1.000000	0.71417	0.632000	0.29296	0.799000	0.45148	7.443000	0.80521	1.708000	0.51301	0.491000	0.48974	CGG		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		T	80053327	C	T	80053327	3	4	385	1	0	0	0	0	1	0	0	0	5683	652	23	1	7550	1	FASN	17	80053327	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	6319917	80053327	1141883	62	20971											
FUT3	2525	genome.wustl.edu	37	19	5843995	5843995	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:5843995G>A	ENST00000303225.6	-	3	1490	c.856C>T	c.(856-858)Cca>Tca	p.P286S	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.P286S|FUT3_ENST00000458379.2_Missense_Mutation_p.P286S|FUT3_ENST00000589620.1_Missense_Mutation_p.P286S	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	286					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCGTCGGGTGGCAGGAACCTC	0.657																																					Esophageal Squamous(82;745 1728 24593 44831)											0			19											13	15	14					19																	5843995		2187	4245	6432	5794995	SO:0001583	missense	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.856C>T	19.37:g.5843995G>A	ENSP00000305603:p.Pro286Ser		5794995	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804778	0.31961	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.64260	-0.09;-0.09	2.29	2.29	0.28610	.	0.000000	0.64402	D	0.000019	D	0.84633	0.5515	H	0.98238	4.18	0.34317	D	0.686106	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	D	0.90436	0.4428	10	0.87932	D	0	.	10.7145	0.46005	0.0:0.0:1.0:0.0	.	286;286;286;286	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	S	286	ENSP00000305603:P286S;ENSP00000416443:P286S	ENSP00000305603:P286S	P	-	1	0	FUT3	5794995	1.000000	0.71417	0.344000	0.25628	0.126000	0.20510	5.801000	0.69115	1.221000	0.43506	0.194000	0.17425	CCA		0.657	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		A	5843995	G	A	5843995	3	1	385	1	0	0	0	0	1	0	0	0	6105	1203	42	2	233	2	FUT3	19	5843995	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09		5843995	53284988	63	20972											
RFX1	5989	genome.wustl.edu	37	19	14077444	14077444	+	Splice_Site	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:14077444C>A	ENST00000254325.4	-	13	2086		c.e13+1			NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)						immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGCCACCCTACCTCACAGTGT	0.672																																																0			19											76	66	69					19																	14077444		2203	4300	6503	13938444	SO:0001630	splice_region_variant	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1851+1G>T	19.37:g.14077444C>A			13938444		Splice_Site	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120138	0.56613	.	.	ENSG00000132005	ENST00000254325	.	.	.	4.66	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1728	0.42920	0.0:0.9024:0.0:0.0976	.	.	.	.	.	-1	.	.	.	-	.	.	RFX1	13938444	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	7.232000	0.78116	1.187000	0.43000	0.561000	0.74099	.		0.672	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918	Intron	A	14077444	C	A	14077444	5	1	385	1	0	0	0	0	0	0	1	0	13265	521	18	3	1123	3	RFX1	19	14077444	Splice_Site	SNP	C	TCGA-36-2533-01A-01D-1526-09	8233449	14077444	45051539	64	20973											
CILP2	148113	genome.wustl.edu	37	19	19651023	19651023	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:19651023G>C	ENST00000291495.5	+	3	259	c.174G>C	c.(172-174)gaG>gaC	p.E58D	CILP2_ENST00000586018.1_Missense_Mutation_p.E64D	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	58						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGCCAGCGAGTGGACGTCCT	0.697																																																0			19											20	22	21					19																	19651023		2189	4295	6484	19512023	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.174G>C	19.37:g.19651023G>C	ENSP00000291495:p.Glu58Asp		19512023	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864106	0.71949	.	.	ENSG00000160161	ENST00000291495	T	0.17854	2.25	3.74	1.57	0.23409	.	0.053822	0.64402	D	0.000001	T	0.31040	0.0784	M	0.62154	1.92	0.37080	D	0.898922	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.997	T	0.12344	-1.0551	10	0.42905	T	0.14	-10.8479	5.6828	0.17786	0.3552:0.0:0.6448:0.0	.	58;58	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	D	58	ENSP00000291495:E58D	ENSP00000291495:E58D	E	+	3	2	CILP2	19512023	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.423000	0.44705	0.374000	0.24650	0.306000	0.20318	GAG		0.697	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		C	19651023	G	C	19651023	3	2	385	1	0	0	0	0	1	0	0	0	3430	1020	36	3	184	3	CILP2	19	19651023	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09	5573579	19651023	39477960	65	20974											
HRC	3270	genome.wustl.edu	37	19	49658196	49658196	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:49658196C>A	ENST00000252825.4	-	1	485	c.299G>T	c.(298-300)gGg>gTg	p.G100V	HRC_ENST00000595625.1_Missense_Mutation_p.G100V|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	100					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GAGTAGGTGCCCATATTCCTT	0.547																																					Melanoma(37;75 1097 24567 25669 30645)											0			19											165	137	147					19																	49658196		2203	4300	6503	54350008	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.299G>T	19.37:g.49658196C>A	ENSP00000252825:p.Gly100Val		54350008	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	7.025	0.559379	0.13436	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.06768	3.26	2.58	1.52	0.23074	.	.	.	.	.	T	0.09069	0.0224	L	0.48642	1.525	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.26395	-1.0104	9	0.44086	T	0.13	0.0028	10.5928	0.45318	0.0:0.8795:0.0:0.1205	.	100	P23327	SRCH_HUMAN	V	100;70	ENSP00000252825:G100V	ENSP00000252825:G100V	G	-	2	0	HRC	54350008	0.000000	0.05858	0.017000	0.16124	0.008000	0.06430	0.260000	0.18424	0.172000	0.19760	-1.598000	0.00824	GGG		0.547	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		A	49658196	C	A	49658196	3	1	385	1	0	0	0	0	1	0	0	0	7352	623	22	3	1824	3	HRC	19	49658196	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	30007173	49658196	9470787	66	20975											
C19orf63	284361	genome.wustl.edu	37	19	50982299	50982299	+	Missense_Mutation	SNP	C	C	A	rs554226030		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:50982299C>A	ENST00000334976.6	+	3	319	c.273C>A	c.(271-273)agC>agA	p.S91R	EMC10_ENST00000376918.3_Missense_Mutation_p.S91R|FAM71E1_ENST00000595790.1_5'Flank|FAM71E1_ENST00000600100.1_5'Flank|EMC10_ENST00000598585.1_Missense_Mutation_p.S91R|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	91						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											GGCAGCTCAGCGAGGAGGAGC	0.647																																																0			19											33	27	29					19																	50982299		2203	4300	6503	55674111	SO:0001583	missense	284361			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1"	614545	"chromosome 19 open reading frame 63"	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.273C>A	19.37:g.50982299C>A	ENSP00000334037:p.Ser91Arg		55674111	Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	ENST00000334976.6	37	CCDS12796.1	.	.	.	.	.	.	.	.	.	.	C	9.952	1.220540	0.22457	.	.	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	3.93	-7.87	0.01183	.	0.370128	0.26582	N	0.023580	T	0.51041	0.1651	L	0.43923	1.385	0.26740	N	0.970412	D;P;D	0.69078	0.997;0.761;0.997	D;B;D	0.66979	0.948;0.343;0.948	T	0.66878	-0.5812	9	0.66056	D	0.02	-34.0894	13.9768	0.64277	0.0982:0.6542:0.0:0.2477	.	91;91;91	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	R	91	.	ENSP00000334037:S91R	S	+	3	2	C19orf63	55674111	0.000000	0.05858	0.023000	0.16930	0.265000	0.26407	-2.735000	0.00802	-2.642000	0.00428	-0.424000	0.05967	AGC		0.647	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		A	50982299	C	A	50982299	3	1	385	1	0	0	0	0	1	0	0	0	1945	767	27	3	283	3	C19orf63	19	50982299	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	1324103	50982299	8146684	67	20976											
SRC	6714	genome.wustl.edu	37	20	36022358	36022358	+	Silent	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr20:36022358C>T	ENST00000373578.2	+	6	760	c.411C>T	c.(409-411)agC>agT	p.S137S	SRC_ENST00000358208.4_Silent_p.S137S|SRC_ENST00000373567.2_Silent_p.S137S|SRC_ENST00000373558.2_Silent_p.S143S|SRC_ENST00000445403.1_Silent_p.S137S|SRC_ENST00000360723.4_Silent_p.S143S	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	137	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	ACATCCCCAGCAACTACGTGG	0.632																																																0			20											64	52	56					20																	36022358		2203	4300	6503	35455772	SO:0001819	synonymous_variant	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.411C>T	20.37:g.36022358C>T			35455772	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	ENST00000373578.2	37	CCDS13294.1																																																																																				0.632	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		T	36022358	C	T	36022358	2	4	385	1	0	0	0	0	0	0	0	1	15136	709	25	2		2	SRC	20	36022358	Silent	SNP	C	TCGA-36-2533-01A-01D-1526-09		36022358	27003162	68	20977											
PREX1	57580	genome.wustl.edu	37	20	47244476	47244476	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr20:47244476G>T	ENST00000371941.3	-	38	4814	c.4792C>A	c.(4792-4794)Cag>Aag	p.Q1598K	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1598					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGGCCGCCTGCTCCAGGGAC	0.687																																																0			20											41	31	35					20																	47244476		2203	4300	6503	46677883	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4792C>A	20.37:g.47244476G>T	ENSP00000361009:p.Gln1598Lys		46677883	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	g	26.8	4.768968	0.90020	.	.	ENSG00000124126	ENST00000371941	T	0.73789	-0.78	4.31	4.31	0.51392	.	0.000000	0.52532	U	0.000077	D	0.85767	0.5773	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.996	D	0.88263	0.2924	10	0.87932	D	0	.	16.7877	0.85578	0.0:0.0:1.0:0.0	.	1598;895	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	K	1598	ENSP00000361009:Q1598K	ENSP00000361009:Q1598K	Q	-	1	0	PREX1	46677883	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.411000	0.97342	1.949000	0.56562	0.457000	0.33378	CAG		0.687	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47244476	G	T	47244476	3	4	385	1	0	0	0	0	1	0	0	0	12479	1328	46	3	199	3	PREX1	20	47244476	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09	11222118	47244476	15781044	69	20978											
PRPF6	57473	genome.wustl.edu	37	20	62630983	62630983	+	Intron	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr20:62630983C>A	ENST00000450537.1	-	2	56				PRPF6_ENST00000535781.1_Silent_p.L298L|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GACTGCTCCTCAAGTCTGTTC	0.582																																																0			20											120	107	112					20																	62630983		2203	4300	6503	62101427	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31675G>T	20.37:g.62630983C>A			62101427	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																				0.582	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		A	62630983	C	A	62630983	1	1	385	0	1	0	0	0	0	0	0	0	12577	813	29	3		3	PRPF6	20	62630983	Intron	SNP	C	TCGA-36-2533-01A-01D-1526-09	15386507	62630983	394537	70	20979											
PPM1F	9647	genome.wustl.edu	37	22	22277487	22277487	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr22:22277487G>T	ENST00000263212.5	-	8	1448	c.1343C>A	c.(1342-1344)aCc>aAc	p.T448N	PPM1F_ENST00000538191.1_Missense_Mutation_p.T344N|PPM1F_ENST00000407142.1_Missense_Mutation_p.T280N	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	448					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGGAGCCTGGGTCTCAGGTTC	0.637																																																0			22											67	76	73					22																	22277487		2203	4300	6503	20607487	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1343C>A	22.37:g.22277487G>T	ENSP00000263212:p.Thr448Asn		20607487	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	G	9.397	1.077035	0.20227	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.17054	2.55;2.3;2.54	4.71	-0.853	0.10709	.	1.986030	0.02054	N	0.050243	T	0.10937	0.0267	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26643	-1.0097	10	0.35671	T	0.21	-18.1755	2.1795	0.03871	0.1294:0.135:0.4245:0.3111	.	344;448	B7Z2C3;P49593	.;PPM1F_HUMAN	N	448;280;280;344	ENSP00000263212:T448N;ENSP00000384930:T280N;ENSP00000439915:T344N	ENSP00000263212:T448N	T	-	2	0	PPM1F	20607487	0.782000	0.28689	0.018000	0.16275	0.030000	0.12068	0.575000	0.23729	0.303000	0.22785	0.655000	0.94253	ACC		0.637	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		T	22277487	G	T	22277487	3	4	385	1	0	0	0	0	1	0	0	0	12342	1261	44	3	25	3	PPM1F	22	22277487	Missense_Mutation	SNP	G	TCGA-36-2533-01A-01D-1526-09		22277487	29027079	71	20980											
BCR	613	genome.wustl.edu	37	22	23596071	23596071	+	Nonsense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr22:23596071C>G	ENST00000305877.8	+	2	2116	c.1365C>G	c.(1363-1365)taC>taG	p.Y455*	BCR_ENST00000359540.3_Nonsense_Mutation_p.Y455*	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	455					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GGCTGCCCTACATTGATGACT	0.642			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0			22											55	45	48					22																	23596071		2203	4299	6502	21926071	SO:0001587	stop_gained	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1365C>G	22.37:g.23596071C>G	ENSP00000303507:p.Tyr455*		21926071	P78501|Q12842|Q4LE80|Q6NZI3	Nonsense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.274275|11.274275	0.99539|0.99539	.|.	.|.	ENSG00000186716|ENSG00000186716	ENST00000334149|ENST00000305877;ENST00000359540	.|.	.|.	.|.	5.37|5.37	4.36|4.36	0.52297|0.52297	.|.	.|0.069145	.|0.64402	.|D	.|0.000012	T|.	0.30823|.	0.0777|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15178|.	-1.0446|.	5|.	0.30078|0.02654	T|T	0.28|1	.|.	9.3368|9.3368	0.38056|0.38056	0.0:0.8352:0.0:0.1648|0.0:0.8352:0.0:0.1648	.|.	.|.	.|.	.|.	R|X	120|455	.|.	ENSP00000335450:T120R|ENSP00000303507:Y455X	T|Y	+|+	2|3	0|2	BCR|BCR	21926071|21926071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.655000|1.655000	0.37345|0.37345	1.414000|1.414000	0.47017|0.47017	0.591000|0.591000	0.81541|0.81541	ACA|TAC		0.642	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		G	23596071	C	G	23596071	4	3	385	1	0	0	0	0	0	1	0	0	1388	489	17	3	1371	3	BCR	22	23596071	Nonsense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	1318584	23596071	27708495	72	20981											
AR	367	genome.wustl.edu	37	X	66765620	66765620	+	Missense_Mutation	SNP	C	C	T	rs370893700		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chrX:66765620C>T	ENST00000374690.3	+	1	1156	c.632C>T	c.(631-633)gCg>gTg	p.A211V	AR_ENST00000504326.1_Missense_Mutation_p.A211V|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.A211V	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	209	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGCGGGAGAGCGAGGGAGGCC	0.577									Androgen Insensitivity Syndrome																																							0			X											31	31	31					X																	66765620		2203	4300	6503	66682345	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.632C>T	X.37:g.66765620C>T	ENSP00000363822:p.Ala211Val		66682345	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	7.591	0.670824	0.14776	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95588	-3.75;-3.75;-3.75	4.98	0.846	0.18955	.	0.734274	0.13032	N	0.419205	D	0.89746	0.6804	L	0.31664	0.95	0.09310	N	1	B;P;P	0.40909	0.238;0.647;0.732	B;B;B	0.37508	0.09;0.252;0.142	T	0.81627	-0.0847	10	0.54805	T	0.06	.	6.7427	0.23445	0.0:0.4978:0.0:0.5022	.	211;211;209	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	V	21;211;211;211;203	ENSP00000363822:A211V;ENSP00000421155:A211V;ENSP00000379359:A211V	ENSP00000363822:A211V	A	+	2	0	AR	66682345	0.002000	0.14202	0.044000	0.18714	0.516000	0.34256	-0.361000	0.07612	-0.175000	0.10725	-0.280000	0.10049	GCG		0.577	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765620	C	T	66765620	3	4	385	1	0	0	0	0	1	0	0	0	836	768	27	1	634	1	AR	23	66765620	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09		66765620	88504940	73	20982											
NXT2	55916	genome.wustl.edu	37	X	108779198	108779198	+	5'Flank	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chrX:108779198C>A	ENST00000372106.1	+	0	0				NXT2_ENST00000372103.1_5'Flank|NXT2_ENST00000218004.1_Missense_Mutation_p.S29R|NXT2_ENST00000372107.1_5'Flank	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2						mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						CACACACCAGCCACTCAAGGT	0.418																																																0			X											43	40	41					X																	108779198		2203	4300	6503	108665854	SO:0001631	upstream_gene_variant	55916			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185		X.37:g.108779198C>A	Exception_encountered		108665854	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	ENST00000372106.1	37	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454135	0.26161	.	.	ENSG00000101888	ENST00000218004	.	.	.	4.23	1.1	0.20463	.	1.385230	0.05057	N	0.479224	T	0.52964	0.1767	.	.	.	0.09310	N	1	P	0.51351	0.944	P	0.56042	0.79	T	0.33266	-0.9875	8	0.87932	D	0	.	5.5501	0.17086	0.0:0.5359:0.0:0.4641	.	29	Q9NPJ8-3	.	R	29	.	ENSP00000218004:S29R	S	+	3	2	NXT2	108665854	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.983000	0.03759	0.070000	0.16634	0.529000	0.55759	AGC		0.418	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698		A	108779198	C	A	108779198	1	1	385	0	1	0	0	0	0	0	0	0	10795	738	26	3		3	NXT2	23	108779198	5'Flank	SNP	C	TCGA-36-2533-01A-01D-1526-09	42013578	108779198	46491362	74	20983											
PLS3	5358	genome.wustl.edu	37	X	114864146	114864146	+	Splice_Site	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chrX:114864146G>A	ENST00000420625.2	+	5	501		c.e5-1		PLS3_ENST00000537301.1_Splice_Site|PLS3_ENST00000355899.3_Splice_Site|PLS3_ENST00000539310.1_Splice_Site|PLS3_ENST00000289290.3_Splice_Site	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3						bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CATAATTTTAGAGGAAGAAAA	0.308																																					Colon(160;1047 1864 8490 12969 29601)											0			X											108	110	109					X																	114864146		2203	4300	6503	114770402	SO:0001630	splice_region_variant	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.368-1G>A	X.37:g.114864146G>A			114770402	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Splice_Site	SNP	ENST00000420625.2	37	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412087	0.83340	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8052	0.85625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLS3	114770402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.279000	0.76181	0.600000	0.82982	.		0.308	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2		Intron	A	114864146	G	A	114864146	5	1	385	1	0	0	0	0	0	0	1	0	12108	956	33	2	381	2	PLS3	23	114864146	Splice_Site	SNP	G	TCGA-36-2533-01A-01D-1526-09	6084948	114864146	40406414	75	20984											
GRIA3	2892	genome.wustl.edu	37	X	122532605	122532605	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chrX:122532605C>T	ENST00000371251.1	+	7	1083	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	GRIA3_ENST00000264357.5_Missense_Mutation_p.P344L|GRIA3_ENST00000371256.5_Missense_Mutation_p.P344L|GRIA3_ENST00000542149.1_Missense_Mutation_p.P344L|GRIA3_ENST00000541091.1_Missense_Mutation_p.P328L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	344					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTAGCAAATCCTGCTGTGCCC	0.473																																																0			X											105	81	89					X																	122532605		2203	4300	6503	122360286	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1031C>T	X.37:g.122532605C>T	ENSP00000360297:p.Pro344Leu		122360286	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139293	0.56936	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.14766	2.64;2.48;2.64;2.64;4.11	5.93	5.06	0.68205	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.99;0.994;0.989	T	0.17992	-1.0351	10	0.72032	D	0.01	.	15.1024	0.72292	0.0:0.862:0.138:0.0	.	328;344;344	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	L	344;344;344;344;328	ENSP00000264357:P344L;ENSP00000446146:P344L;ENSP00000360302:P344L;ENSP00000360297:P344L;ENSP00000446440:P328L	ENSP00000264357:P344L	P	+	2	0	GRIA3	122360286	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.232000	0.43678	0.600000	0.82982	CCT		0.473	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		T	122532605	C	T	122532605	3	4	385	1	0	0	0	0	1	0	0	0	6769	681	24	2	1057	2	GRIA3	23	122532605	Missense_Mutation	SNP	C	TCGA-36-2533-01A-01D-1526-09	7668459	122532605	32737955	76	20985											
CROCC	9696	genome.wustl.edu	37	1	17263285	17263285	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr1:17263285G>T	ENST00000375541.5	+	9	1179	c.1110G>T	c.(1108-1110)caG>caT	p.Q370H	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGGAGGAGCAGCTGCGGGACA	0.677																																																0			1											34	31	32					1																	17263285		2201	4298	6499	17135872	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1110G>T	1.37:g.17263285G>T	ENSP00000364691:p.Gln370His		17135872		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831829	0.50845	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.14022	2.54	4.1	4.1	0.47936	.	.	.	.	.	T	0.17066	0.0410	M	0.64404	1.975	0.50467	D	0.999874	B;B;B	0.30914	0.231;0.144;0.3	B;B;B	0.34452	0.183;0.068;0.084	T	0.02477	-1.1153	9	0.39692	T	0.17	.	11.4942	0.50398	0.0:0.0:0.82:0.18	.	233;233;370	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	H	370;251	ENSP00000364691:Q370H	ENSP00000364691:Q370H	Q	+	3	2	CROCC	17135872	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.124000	0.57924	2.292000	0.77174	0.462000	0.41574	CAG		0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		T	17263285	G	T	17263285	3	4	386	1	0	0	0	0	1	0	0	0	3893	962	34	3	1144	3	CROCC	1	17263285	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09		17263285	231987336	1	20986											
MATN1	4146	genome.wustl.edu	37	1	31187155	31187155	+	Nonsense_Mutation	SNP	G	G	T	rs149688576	byFrequency	TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr1:31187155G>T	ENST00000373765.4	-	7	1415	c.1380C>A	c.(1378-1380)tgC>tgA	p.C460*	MATN1_ENST00000477320.1_5'Flank	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	460					extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGGACTCGCAGGCACACG	0.627																																																0			1											35	35	35					1																	31187155		2203	4300	6503	30959742	SO:0001587	stop_gained	4146			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.1380C>A	1.37:g.31187155G>T	ENSP00000362870:p.Cys460*		30959742	B2R7E3|Q5TBB9	Nonsense_Mutation	SNP	ENST00000373765.4	37	CCDS336.1	.	.	.	.	.	.	.	.	.	.	g	16.20	3.056126	0.55325	.	.	ENSG00000162510	ENST00000373765	.	.	.	4.99	-9.98	0.00438	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1963	21.1591	0.99947	0.7662:0.0:0.2338:0.0	.	.	.	.	X	460	.	ENSP00000362870:C460X	C	-	3	2	MATN1	30959742	0.011000	0.17503	0.095000	0.20976	0.459000	0.32528	-0.669000	0.05262	-3.337000	0.00184	-2.408000	0.00222	TGC		0.627	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		T	31187155	G	T	31187155	4	4	386	1	0	0	0	0	0	1	0	0	9333	1079	38	3	118	3	MATN1	1	31187155	Nonsense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	13923870	31187155	218063466	2	20987											
IGSF3	3321	genome.wustl.edu	37	1	117122026	117122026	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr1:117122026C>T	ENST00000369486.3	-	10	4087	c.3322G>A	c.(3322-3324)Gtt>Att	p.V1108I	IGSF3_ENST00000318837.6_Missense_Mutation_p.V1128I|IGSF3_ENST00000369483.1_Missense_Mutation_p.V1128I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1108					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GTATCTAGAACACGGATGCCG	0.502																																																0			1											78	76	77					1																	117122026		2196	4285	6481	116923549	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3322G>A	1.37:g.117122026C>T	ENSP00000358498:p.Val1108Ile		116923549	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322849	0.41096	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.06449	3.3;3.55;3.55	4.61	3.7	0.42460	Immunoglobulin subtype (1);	0.150342	0.44285	N	0.000478	T	0.11196	0.0273	M	0.65498	2.005	0.42328	D	0.992287	D;D	0.64830	0.994;0.966	D;P	0.72625	0.978;0.851	T	0.01961	-1.1239	10	0.41790	T	0.15	-19.1149	10.1279	0.42661	0.0:0.9023:0.0:0.0977	.	1108;1128	O75054;A6NJZ6	IGSF3_HUMAN;.	I	1108;1128;1128	ENSP00000358498:V1108I;ENSP00000358495:V1128I;ENSP00000321184:V1128I	ENSP00000321184:V1128I	V	-	1	0	IGSF3	116923549	0.999000	0.42202	0.070000	0.20053	0.015000	0.08874	4.397000	0.59690	1.158000	0.42547	0.462000	0.41574	GTT		0.502	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117122026	C	T	117122026	3	4	386	1	0	0	0	0	1	0	0	0	7601	478	17	2	270	2	IGSF3	1	117122026	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	85934871	117122026	132128595	3	20988											
NOTCH2	4853	genome.wustl.edu	37	1	120464419	120464419	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr1:120464419G>C	ENST00000256646.2	-	29	5446	c.5227C>G	c.(5227-5229)Caa>Gaa	p.Q1743E	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1743					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGAGACTTGCACTGAGAGA	0.408			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0			1											100	97	98					1																	120464419		2203	4300	6503	120265942	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5227C>G	1.37:g.120464419G>C	ENSP00000256646:p.Gln1743Glu		120265942	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218695	0.39201	.	.	ENSG00000134250	ENST00000256646	T	0.81163	-1.46	5.2	5.2	0.72013	.	0.000000	0.36665	U	0.002473	T	0.52058	0.1711	L	0.31845	0.965	0.47214	D	0.999356	B	0.33919	0.432	B	0.23419	0.046	T	0.62572	-0.6826	10	0.02654	T	1	.	17.9136	0.88942	0.0:0.0:1.0:0.0	.	1743	Q04721	NOTC2_HUMAN	E	1743	ENSP00000256646:Q1743E	ENSP00000256646:Q1743E	Q	-	1	0	NOTCH2	120265942	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.444000	0.60001	2.706000	0.92434	0.563000	0.77884	CAA		0.408	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120464419	G	C	120464419	3	2	386	1	0	0	0	0	1	0	0	0	10548	1328	46	3	2212	3	NOTCH2	1	120464419	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	3342393	120464419	128786202	4	20989											
SLC19A2	10560	genome.wustl.edu	37	1	169439231	169439231	+	Missense_Mutation	SNP	C	C	A	rs199921604		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr1:169439231C>A	ENST00000236137.5	-	3	1237	c.1001G>T	c.(1000-1002)gGt>gTt	p.G334V	SLC19A2_ENST00000367804.4_Missense_Mutation_p.G133V	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	334					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CTCCACGCCACCATTATAGAT	0.512																																																0			1											105	100	101					1																	169439231		2203	4300	6503	167705855	SO:0001583	missense	10560			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1001G>T	1.37:g.169439231C>A	ENSP00000236137:p.Gly334Val		167705855	B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923329	0.92319	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.90900	-2.75;-2.75;-2.75	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.099516	0.64402	D	0.000002	D	0.96629	0.8900	M	0.92923	3.36	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96755	0.9557	9	0.87932	D	0	-13.1308	20.197	0.98244	0.0:1.0:0.0:0.0	.	133;334	O60779-2;O60779	.;S19A2_HUMAN	V	334;133;296	ENSP00000236137:G334V;ENSP00000356778:G133V;ENSP00000356776:G296V	ENSP00000236137:G334V	G	-	2	0	SLC19A2	167705855	1.000000	0.71417	0.919000	0.36401	0.979000	0.70002	7.487000	0.81328	2.776000	0.95493	0.585000	0.79938	GGT		0.512	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		A	169439231	C	A	169439231	3	1	386	1	0	0	0	0	1	0	0	0	14432	507	18	3	508	3	SLC19A2	1	169439231	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	48974812	169439231	79811390	5	20990											
ZNF648	127665	genome.wustl.edu	37	1	182026653	182026653	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr1:182026653G>T	ENST00000339948.3	-	2	700	c.493C>A	c.(493-495)Ccc>Acc	p.P165T		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGGAAGCTGGGTGGGACATCC	0.547																																					NSCLC(71;908 1374 5429 20458 35642)											0			1											75	75	75					1																	182026653		2203	4300	6503	180293276	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.493C>A	1.37:g.182026653G>T	ENSP00000344129:p.Pro165Thr		180293276	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	A	3.668	-0.068026	0.07228	.	.	ENSG00000179930	ENST00000339948	T	0.06528	3.29	2.71	1.51	0.23008	.	.	.	.	.	T	0.02649	0.0080	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43893	-0.9363	9	0.66056	D	0.02	.	2.1759	0.03862	0.4793:0.0:0.2768:0.2439	.	165	Q5T619	ZN648_HUMAN	T	165	ENSP00000344129:P165T	ENSP00000344129:P165T	P	-	1	0	ZNF648	180293276	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.323000	0.07997	0.025000	0.15241	-0.254000	0.11334	CCC		0.547	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		T	182026653	G	T	182026653	3	4	386	1	0	0	0	0	1	0	0	0	18063	1261	44	3	1217	3	ZNF648	1	182026653	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	12587422	182026653	67223968	6	20991											
APOBEC4	403314	genome.wustl.edu	37	1	183617796	183617796	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr1:183617796C>T	ENST00000308641.4	-	2	392	c.121G>A	c.(121-123)Gca>Aca	p.A41T	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	41					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GAAACTCTTGCTTCTTCACCT	0.368																																																0			1											105	101	102					1																	183617796		2203	4300	6503	181884419	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.121G>A	1.37:g.183617796C>T	ENSP00000310622:p.Ala41Thr		181884419	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000453	0.74818	.	.	ENSG00000173627	ENST00000308641	T	0.17213	2.29	5.55	5.55	0.83447	.	0.131950	0.32753	N	0.005685	T	0.26991	0.0661	L	0.29908	0.895	0.36990	D	0.89475	D	0.63880	0.993	P	0.60789	0.879	T	0.07829	-1.0752	10	0.72032	D	0.01	-22.7054	14.003	0.64444	0.1515:0.8485:0.0:0.0	.	41	Q8WW27	ABEC4_HUMAN	T	41	ENSP00000310622:A41T	ENSP00000310622:A41T	A	-	1	0	APOBEC4	181884419	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.943000	0.49026	2.607000	0.88179	0.655000	0.94253	GCA		0.368	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		T	183617796	C	T	183617796	3	4	386	1	0	0	0	0	1	0	0	0	796	797	28	2	986	2	APOBEC4	1	183617796	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	1591143	183617796	65632825	7	20992											
IVNS1ABP	10625	genome.wustl.edu	37	1	185269234	185269234	+	Silent	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr1:185269234G>A	ENST00000367498.3	-	13	2020	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	IVNS1ABP_ENST00000392007.3_Silent_p.Y248Y|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	466					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CACCAACGATGTATAACTTTC	0.338																																																0			1											112	105	108					1																	185269234		2203	4300	6503	183535857	SO:0001819	synonymous_variant	10625			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1398C>T	1.37:g.185269234G>A			183535857	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Silent	SNP	ENST00000367498.3	37	CCDS1368.1																																																																																				0.338	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		A	185269234	G	A	185269234	2	1	386	1	0	0	0	0	0	0	0	1	7930	1372	48	2		2	IVNS1ABP	1	185269234	Silent	SNP	G	TCGA-36-2534-01A-01D-1526-09	1651438	185269234	63981387	8	20993											
PXDN	7837	genome.wustl.edu	37	2	1652438	1652438	+	Silent	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr2:1652438G>A	ENST00000252804.4	-	17	3164	c.3114C>T	c.(3112-3114)atC>atT	p.I1038I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1038					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCTCCCCCAGGATCTTCGGGA	0.617																																																0			2											33	38	37					2																	1652438		2189	4272	6461	1631445	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3114C>T	2.37:g.1652438G>A			1631445	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1																																																																																				0.617	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1652438	G	A	1652438	2	1	386	1	0	0	0	0	0	0	0	1	12850	1164	41	2		2	PXDN	2	1652438	Silent	SNP	G	TCGA-36-2534-01A-01D-1526-09		1652438	241546935	9	20994											
WDR35	57539	genome.wustl.edu	37	2	20138094	20138094	+	Silent	SNP	T	T	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr2:20138094T>A	ENST00000345530.3	-	19	2143	c.2028A>T	c.(2026-2028)gcA>gcT	p.A676A	WDR35_ENST00000281405.4_Silent_p.A665A|WDR35_ENST00000416055.2_Silent_p.A241A	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	676					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCAATCAGTGCTCGGCTAT	0.383																																																0			2											106	108	107					2																	20138094		2203	4300	6503	20001575	SO:0001819	synonymous_variant	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2028A>T	2.37:g.20138094T>A			20001575	B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	CCDS33152.1																																																																																				0.383	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		A	20138094	T	A	20138094	2	1	386	1	0	0	0	0	0	0	0	1	17289	1683	59	5		5	WDR35	2	20138094	Silent	SNP	T	TCGA-36-2534-01A-01D-1526-09	18485656	20138094	223061279	10	20995											
APOB	338	genome.wustl.edu	37	2	21233200	21233200	+	Silent	SNP	T	T	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr2:21233200T>C	ENST00000233242.1	-	26	6667	c.6540A>G	c.(6538-6540)caA>caG	p.Q2180Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2180					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGATCAAATTGTATCATAT	0.234																																																0			2											39	40	39					2																	21233200		2193	4293	6486	21086705	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6540A>G	2.37:g.21233200T>C			21086705	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.234	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21233200	T	C	21233200	2	2	386	1	0	0	0	0	0	0	0	1	785	1490	52	4		4	APOB	2	21233200	Silent	SNP	T	TCGA-36-2534-01A-01D-1526-09	1095106	21233200	221966173	11	20996											
EIF2B4	8890	genome.wustl.edu	37	2	27587370	27587370	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr2:27587370T>G	ENST00000347454.4	-	13	1640	c.1469A>C	c.(1468-1470)gAt>gCt	p.D490A	EIF2B4_ENST00000493344.2_Missense_Mutation_p.D511A|EIF2B4_ENST00000451130.2_Missense_Mutation_p.D510A|EIF2B4_ENST00000445933.2_Missense_Mutation_p.D489A|AC074117.10_ENST00000412749.1_RNA	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	490					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGTCACATCATAGACTAG	0.522																																																0			2											146	125	132					2																	27587370		2203	4300	6503	27440874	SO:0001583	missense	8890			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.1469A>C	2.37:g.27587370T>G	ENSP00000233552:p.Asp490Ala		27440874	Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259058	0.80246	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49	5.64	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.98674	1.0689	10	0.87932	D	0	-17.5689	10.3899	0.44162	0.0:0.0776:0.0:0.9224	.	487;489;490;510	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	A	490;487;489;510;511	ENSP00000233552:D490A;ENSP00000394397:D489A;ENSP00000394869:D510A;ENSP00000429323:D511A	ENSP00000233552:D490A	D	-	2	0	EIF2B4	27440874	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.956000	0.87863	0.963000	0.38082	0.533000	0.62120	GAT		0.522	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			G	27587370	T	G	27587370	3	3	386	1	0	0	0	0	1	0	0	0	5003	1435	50	5	106	5	EIF2B4	2	27587370	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	6354170	27587370	215612003	12	20997											
STON1	11037	genome.wustl.edu	37	2	48808115	48808115	+	Missense_Mutation	SNP	G	G	A	rs147769896		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr2:48808115G>A	ENST00000406226.1	+	3	538	c.343G>A	c.(343-345)Gca>Aca	p.A115T	STON1_ENST00000404752.1_Missense_Mutation_p.A115T|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.A115T|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.A115T|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.A115T|STON1_ENST00000309835.3_Missense_Mutation_p.A115T|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.A115T|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.A115T	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	115					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGCCCACTCGCAATATCAGG	0.473													G|||	1	0.000199681	0	0	5008	,	,		21656	0		0.001	False		,,,				2504	0															0			2											109	105	106					2																	48808115		2203	4300	6503	48661619	SO:0001583	missense	286749			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.343G>A	2.37:g.48808115G>A	ENSP00000384615:p.Ala115Thr		48661619	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	CCDS1841.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.011	-1.720889	0.00700	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96;2.96;3.13	5.24	-7.58	0.01313	.	0.751444	0.12809	N	0.437329	T	0.01765	0.0056	N	0.00483	-1.445	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39522	-0.9610	10	0.02654	T	1	.	9.3313	0.38023	0.3073:0.4944:0.1983:0.0	.	115;115;115	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	T	115	ENSP00000385273:A115T;ENSP00000384615:A115T;ENSP00000310969:A115T;ENSP00000385499:A115T;ENSP00000385701:A115T;ENSP00000378236:A115T;ENSP00000311493:A115T;ENSP00000378234:A115T	ENSP00000310969:A115T	A	+	1	0	STON1-GTF2A1L;STON1	48661619	0.000000	0.05858	0.000000	0.03702	0.458000	0.32498	0.070000	0.14573	-1.050000	0.03230	-0.238000	0.12139	GCA		0.473	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		A	48808115	G	A	48808115	3	1	386	1	0	0	0	0	1	0	0	0	15318	1087	38	1	345	1	STON1	2	48808115	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	21220745	48808115	194391258	13	20998											
C2orf7	84279	genome.wustl.edu	37	2	73456033	73456033	+	Silent	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr2:73456033C>G	ENST00000258083.2	-	4	403	c.336G>C	c.(334-336)gtG>gtC	p.V112V	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	112	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						CAGAGATGATCACCGCCCGCC	0.587																																																0			2											38	35	36					2																	73456033		2203	4300	6503	73309541	SO:0001819	synonymous_variant	84279			BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"protease-associated domain-containing glycoprotein 21 kDa"		"chromosome 2 open reading frame 7"	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.336G>C	2.37:g.73456033C>G			73309541	Q2Z1P2	Silent	SNP	ENST00000258083.2	37	CCDS1924.1																																																																																				0.587	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		G	73456033	C	G	73456033	2	3	386	1	0	0	0	0	0	0	0	1	2189	813	29	3		3	C2orf7	2	73456033	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	24647918	73456033	169743340	14	20999											
ARHGAP15	55843	genome.wustl.edu	37	2	143986163	143986163	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr2:143986163A>G	ENST00000295095.6	+	5	477	c.310A>G	c.(310-312)Act>Gct	p.T104A	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.T104A	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	104	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAACTGGTCTACTTCCTGGAT	0.328																																																0			2											89	94	93					2																	143986163		2203	4299	6502	143702633	SO:0001583	missense	55843			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.310A>G	2.37:g.143986163A>G	ENSP00000295095:p.Thr104Ala		143702633	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568001	0.45798	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T;T	0.75260	-0.92;-0.92	5.6	4.43	0.53597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.452763	0.24708	N	0.036252	T	0.66626	0.2808	L	0.28274	0.84	0.42026	D	0.991007	P;B	0.44195	0.828;0.116	P;B	0.47251	0.542;0.101	T	0.62868	-0.6763	10	0.31617	T	0.26	.	10.6972	0.45905	0.8576:0.0:0.0:0.1424	.	104;104	B4E0R3;Q53QZ3	.;RHG15_HUMAN	A	104	ENSP00000386560:T104A;ENSP00000295095:T104A	ENSP00000295095:T104A	T	+	1	0	ARHGAP15	143702633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.107000	0.57811	0.922000	0.37019	0.528000	0.53228	ACT		0.328	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		G	143986163	A	G	143986163	3	3	386	1	0	0	0	0	1	0	0	0	866	391	14	4	324	4	ARHGAP15	2	143986163	Missense_Mutation	SNP	A	TCGA-36-2534-01A-01D-1526-09	70530130	143986163	99213210	15	21000											
IFIH1	64135	genome.wustl.edu	37	2	163163342	163163342	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr2:163163342C>G	ENST00000263642.2	-	3	1041	c.646G>C	c.(646-648)Gat>Cat	p.D216H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	216		Cleavage. {ECO:0000250}.			cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGAGGACCATCAACTTGTGAT	0.373																																																0			2											101	92	95					2																	163163342		2203	4300	6503	162871588	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.646G>C	2.37:g.163163342C>G	ENSP00000263642:p.Asp216His		162871588	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	c	12.55	1.970806	0.34754	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05513	3.43	4.32	1.5	0.22942	.	0.987711	0.08271	N	0.971476	T	0.07728	0.0194	L	0.57536	1.79	0.09310	N	0.999999	P	0.39216	0.664	B	0.39185	0.293	T	0.38802	-0.9644	10	0.15066	T	0.55	-0.8154	6.7397	0.23428	0.0:0.7009:0.0:0.2991	.	216	Q9BYX4	IFIH1_HUMAN	H	216	ENSP00000263642:D216H	ENSP00000263642:D216H	D	-	1	0	IFIH1	162871588	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.517000	0.06275	0.200000	0.20447	0.556000	0.70494	GAT		0.373	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		G	163163342	C	G	163163342	3	3	386	1	0	0	0	0	1	0	0	0	7520	826	29	3	2487	3	IFIH1	2	163163342	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	19177179	163163342	80036031	16	21001											
NDUFA10	4705	genome.wustl.edu	37	2	240954195	240954195	+	Silent	SNP	G	G	A	rs148656779		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr2:240954195G>A	ENST00000252711.2	-	5	730	c.630C>T	c.(628-630)ccC>ccT	p.P210P	NDUFA10_ENST00000307300.4_Silent_p.P250P|NDUFA10_ENST00000404554.1_Silent_p.P210P	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	210					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)	p.P210P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CCTCTGGAACGGGCACATCGA	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		19054	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	lung(1)	2						G		1,4405	2.1+/-5.4	0,1,2202	132	121	124		630	-8.8	0	2	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous	NDUFA10	NM_004544.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		210/356	240954195	1,13005	2203	4300	6503	240602868	SO:0001819	synonymous_variant	4705			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.630C>T	2.37:g.240954195G>A			240602868	Q8WXC9	Silent	SNP	ENST00000252711.2	37	CCDS2531.1																																																																																				0.483	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		A	240954195	G	A	240954195	2	1	386	1	0	0	0	0	0	0	0	1	10260	1103	39	1		1	NDUFA10	2	240954195	Silent	SNP	G	TCGA-36-2534-01A-01D-1526-09	77790853	240954195	2245178	17	21002											
CNTN6	27255	genome.wustl.edu	37	3	1339577	1339577	+	Silent	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr3:1339577G>A	ENST00000446702.2	+	7	1290	c.663G>A	c.(661-663)gtG>gtA	p.V221V	CNTN6_ENST00000539053.1_Silent_p.V149V|CNTN6_ENST00000350110.2_Silent_p.V221V			Q9UQ52	CNTN6_HUMAN	contactin 6	221					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAACAGGTGTGATGGGGGAAT	0.353																																																0			3											116	123	121					3																	1339577		2203	4300	6503	1314577	SO:0001819	synonymous_variant	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.663G>A	3.37:g.1339577G>A			1314577	Q2KHM2	Silent	SNP	ENST00000446702.2	37	CCDS2557.1																																																																																				0.353	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		A	1339577	G	A	1339577	2	1	386	1	0	0	0	0	0	0	0	1	3645	1277	45	2		2	CNTN6	3	1339577	Silent	SNP	G	TCGA-36-2534-01A-01D-1526-09		1339577	196682853	18	21003											
CD200R1	131450	genome.wustl.edu	37	3	112643345	112643345	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr3:112643345C>A	ENST00000471858.1	-	6	1079	c.847G>T	c.(847-849)Gtt>Ttt	p.V283F	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.V306F	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	283					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ACCTCCTCAACAACTGGAGTA	0.269																																																0			3											100	89	92					3																	112643345		2193	4287	6480	114126035	SO:0001583	missense	131450			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.847G>T	3.37:g.112643345C>A	ENSP00000418928:p.Val283Phe		114126035	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030882	0.35797	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.15139	2.48;2.45	4.61	-1.14	0.09741	.	2.952780	0.01831	U	0.034700	T	0.12944	0.0314	L	0.27053	0.805	0.09310	N	1	B;B	0.14805	0.006;0.011	B;B	0.12156	0.003;0.007	T	0.32719	-0.9896	10	0.87932	D	0	.	4.3225	0.11023	0.4987:0.3073:0.0:0.1939	.	283;306	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	F	283;306	ENSP00000418928:V283F;ENSP00000311035:V306F	ENSP00000311035:V306F	V	-	1	0	CD200R1	114126035	0.000000	0.05858	0.005000	0.12908	0.077000	0.17291	-0.512000	0.06313	-0.517000	0.06461	0.563000	0.77884	GTT		0.269	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		A	112643345	C	A	112643345	3	1	386	1	0	0	0	0	1	0	0	0	2981	478	17	3	138	3	CD200R1	3	112643345	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	111303768	112643345	85379085	19	21004											
PIGG	54872	genome.wustl.edu	37	4	527631	527631	+	Missense_Mutation	SNP	G	G	A	rs140960241		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr4:527631G>A	ENST00000453061.2	+	12	2702	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M	PIGG_ENST00000310340.5_Missense_Mutation_p.V858M|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.V777M|PIGG_ENST00000383028.4_Missense_Mutation_p.V733M	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	866					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CATTGCCACCGTGGACATCTC	0.582																																																0			4											139	108	119					4																	527631		2203	4300	6503	517631	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2596G>A	4.37:g.527631G>A	ENSP00000415203:p.Val866Met		517631	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555157	0.65425	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.78	3.84	0.44239	.	0.212761	0.39274	N	0.001406	T	0.53546	0.1803	M	0.77103	2.36	0.80722	D	1	D;P;P	0.64830	0.994;0.76;0.846	P;B;B	0.55965	0.788;0.148;0.285	T	0.56637	-0.7946	10	0.56958	D	0.05	-16.3221	6.6078	0.22735	0.1114:0.0:0.7112:0.1774	.	733;866;858	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	M	858;866;777;733;22	ENSP00000311750:V858M;ENSP00000415203:V866M;ENSP00000424800:V777M;ENSP00000372494:V733M	ENSP00000311750:V858M	V	+	1	0	PIGG	517631	1.000000	0.71417	0.943000	0.38184	0.938000	0.57974	4.136000	0.58004	1.455000	0.47813	0.655000	0.94253	GTG		0.582	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		A	527631	G	A	527631	3	1	386	1	0	0	0	0	1	0	0	0	11888	1145	40	1	2642	1	PIGG	4	527631	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09		527631	190626645	20	21005											
KLB	152831	genome.wustl.edu	37	4	39448094	39448094	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr4:39448094A>C	ENST00000257408.4	+	4	1845	c.1748A>C	c.(1747-1749)aAa>aCa	p.K583T		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	583	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTAAACATCAAAAAACAACTT	0.522																																																0			4											105	108	107					4																	39448094		2203	4300	6503	39124489	SO:0001583	missense	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1748A>C	4.37:g.39448094A>C	ENSP00000257408:p.Lys583Thr		39124489	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820463	0.50633	.	.	ENSG00000134962	ENST00000257408	T	0.35789	1.29	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.293423	0.40302	N	0.001137	T	0.52948	0.1766	M	0.88450	2.955	0.38481	D	0.947729	D;D	0.53312	0.959;0.959	P;P	0.50537	0.643;0.643	T	0.63919	-0.6528	10	0.46703	T	0.11	-23.4642	10.2921	0.43603	0.9262:0.0:0.0738:0.0	.	574;583	B7ZL50;Q86Z14	.;KLOTB_HUMAN	T	583	ENSP00000257408:K583T	ENSP00000257408:K583T	K	+	2	0	KLB	39124489	0.994000	0.37717	0.996000	0.52242	0.666000	0.39218	2.377000	0.44300	2.166000	0.68216	0.397000	0.26171	AAA		0.522	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		C	39448094	A	C	39448094	3	2	386	1	0	0	0	0	1	0	0	0	8332	14	1	5	1762	5	KLB	4	39448094	Missense_Mutation	SNP	A	TCGA-36-2534-01A-01D-1526-09	38920463	39448094	151706182	21	21006											
PDHA2	5161	genome.wustl.edu	37	4	96762459	96762459	+	Silent	SNP	C	C	T	rs146428499	byFrequency	TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr4:96762459C>T	ENST00000295266.4	+	1	1221	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	386					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGTTTAAGTCCGTCAGTTAAA	0.403																																																0			4						C		1,4405	2.1+/-5.4	0,1,2202	89	82	84		1158	-3.2	0	4	dbSNP_134	84	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous	PDHA2	NM_005390.4		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		386/389	96762459	5,13001	2203	4300	6503	96981482	SO:0001819	synonymous_variant	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1158C>T	4.37:g.96762459C>T			96981482	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	CCDS3644.1																																																																																				0.403	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			T	96762459	C	T	96762459	2	4	386	1	0	0	0	0	0	0	0	1	11665	639	23	1		1	PDHA2	4	96762459	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	57314365	96762459	94391817	22	21007											
FAM149A	25854	genome.wustl.edu	37	4	187086508	187086508	+	Missense_Mutation	SNP	G	G	A	rs149087810		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr4:187086508G>A	ENST00000356371.5	+	11	1927	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	FAM149A_ENST00000227065.4_Missense_Mutation_p.V352M|FAM149A_ENST00000514153.1_Missense_Mutation_p.V352M|FAM149A_ENST00000502970.1_Missense_Mutation_p.V352M|FAM149A_ENST00000389354.5_Missense_Mutation_p.V352M|FAM149A_ENST00000503432.1_Missense_Mutation_p.V352M			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	643										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GCCGACTGGCGTGGACCACAT	0.552																																																0			4						G	MET/VAL,MET/VAL	0,4406		0,0,2203	111	103	106		1054,1054	-11.1	0	4	dbSNP_134	106	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense	FAM149A	NM_001006655.2,NM_015398.2	21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	352/483,352/483	187086508	2,13004	2203	4300	6503	187323502	SO:0001583	missense	25854			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1927G>A	4.37:g.187086508G>A	ENSP00000348732:p.Val643Met		187323502	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.92|10.92	1.486833|1.486833	0.26686|0.26686	0.0|0.0	2.33E-4|2.33E-4	ENSG00000109794|ENSG00000109794	ENST00000512271|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.|T;T;T;T;T;T	.|0.11712	.|2.77;2.75;2.77;2.77;2.77;2.77	5.55|5.55	-11.1|-11.1	0.00147|0.00147	.|.	.|2.038210	.|0.01708	.|N	.|0.027538	T|T	0.03959|0.03959	0.0111|0.0111	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	.|B;B	.|0.29253	.|0.239;0.188	.|B;B	.|0.13407	.|0.009;0.004	T|T	0.28996|0.28996	-1.0026|-1.0026	5|10	.|0.33141	.|T	.|0.24	1.0582|1.0582	1.0839|1.0839	0.01648|0.01648	0.2736:0.2621:0.2814:0.1829|0.2736:0.2621:0.2814:0.1829	.|.	.|643;643	.|A5PLN7-3;A5PLN7	.|.;F149A_HUMAN	H|M	29|352;643;352;352;352;352	.|ENSP00000426835:V352M;ENSP00000348732:V643M;ENSP00000227065:V352M;ENSP00000427155:V352M;ENSP00000424380:V352M;ENSP00000374005:V352M	.|ENSP00000227065:V352M	R|V	+|+	2|1	0|0	FAM149A|FAM149A	187323502|187323502	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.130000|-1.130000	0.03241|0.03241	-1.624000|-1.624000	0.01556|0.01556	-1.074000|-1.074000	0.02243|0.02243	CGT|GTG		0.552	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		A	187086508	G	A	187086508	3	1	386	1	0	0	0	0	1	0	0	0	5455	1145	40	1	1084	1	FAM149A	4	187086508	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	90324049	187086508	4067768	23	21008											
ADCY2	108	genome.wustl.edu	37	5	7826926	7826926	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr5:7826926C>T	ENST00000338316.4	+	25	3307	c.3218C>T	c.(3217-3219)aCg>aTg	p.T1073M	ADCY2_ENST00000537121.1_Missense_Mutation_p.T893M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1073					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GACCTGAAGACGTACTTTGTA	0.488																																																0			5											121	101	108					5																	7826926		2203	4300	6503	7879926	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3218C>T	5.37:g.7826926C>T	ENSP00000342952:p.Thr1073Met		7879926	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955553	0.92726	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	D;D	0.82803	-1.65;-1.65	5.76	5.76	0.90799	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93562	0.6896	10	0.87932	D	0	.	19.9504	0.97197	0.0:1.0:0.0:0.0	.	893;1073	B7Z2C1;Q08462	.;ADCY2_HUMAN	M	1073;185;906;893	ENSP00000342952:T1073M;ENSP00000444803:T893M	ENSP00000342952:T1073M	T	+	2	0	ADCY2	7879926	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.584000	0.82572	2.720000	0.93068	0.591000	0.81541	ACG		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7826926	C	T	7826926	3	4	386	1	0	0	0	0	1	0	0	0	294	536	19	1	3316	1	ADCY2	5	7826926	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09		7826926	173088334	24	21009											
CARD6	84674	genome.wustl.edu	37	5	40841613	40841613	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr5:40841613G>C	ENST00000254691.5	+	1	328	c.129G>C	c.(127-129)gaG>gaC	p.E43D	CARD6_ENST00000381677.3_Missense_Mutation_p.E43D	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	43	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTGAGGAAGAGTATGAGACTC	0.398																																																0			5											101	102	101					5																	40841613		2203	4300	6503	40877370	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.129G>C	5.37:g.40841613G>C	ENSP00000254691:p.Glu43Asp		40877370	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508290	0.64410	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.21361	2.01;2.01	4.88	2.16	0.27623	DEATH-like (2);Caspase Recruitment (3);	0.238980	0.29638	N	0.011598	T	0.38348	0.1037	M	0.68952	2.095	0.27852	N	0.940696	D	0.59767	0.986	D	0.77004	0.989	T	0.14144	-1.0483	10	0.87932	D	0	-19.7577	6.7671	0.23573	0.2908:0.0:0.7092:0.0	.	43	Q9BX69	CARD6_HUMAN	D	43	ENSP00000254691:E43D;ENSP00000371093:E43D	ENSP00000254691:E43D	E	+	3	2	CARD6	40877370	0.868000	0.29978	0.869000	0.34112	0.874000	0.50279	-0.334000	0.07883	0.276000	0.22118	-0.253000	0.11424	GAG		0.398	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			C	40841613	G	C	40841613	3	2	386	1	0	0	0	0	1	0	0	0	2650	1020	36	3	131	3	CARD6	5	40841613	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	33014687	40841613	140073647	25	21010											
DDX46	9879	genome.wustl.edu	37	5	134147462	134147462	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr5:134147462C>G	ENST00000354283.4	+	18	2498	c.2363C>G	c.(2362-2364)gCt>gGt	p.A788G	DDX46_ENST00000452510.2_Missense_Mutation_p.A788G			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	788					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGCTTTGGCTAATGAGAGG	0.358																																					Colon(13;391 453 4901 21675 24897)											0			5											120	123	122					5																	134147462		2203	4300	6503	134175361	SO:0001583	missense	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2363C>G	5.37:g.134147462C>G	ENSP00000346236:p.Ala788Gly		134175361	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212539	0.58452	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.27256	1.69;1.68	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	M	0.78456	2.415	0.80722	D	1	P	0.38395	0.629	B	0.43331	0.416	T	0.21621	-1.0240	10	0.23891	T	0.37	-13.6189	18.4958	0.90864	0.0:1.0:0.0:0.0	.	788	Q7L014	DDX46_HUMAN	G	788	ENSP00000416534:A788G;ENSP00000346236:A788G	ENSP00000346236:A788G	A	+	2	0	DDX46	134175361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.050000	0.71063	2.430000	0.82344	0.491000	0.48974	GCT		0.358	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		G	134147462	C	G	134147462	3	3	386	1	0	0	0	0	1	0	0	0	4364	797	28	3	2433	3	DDX46	5	134147462	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	93305849	134147462	46767798	26	21011											
ELOVL2	54898	genome.wustl.edu	37	6	10995339	10995339	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr6:10995339G>A	ENST00000354666.3	-	5	489	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	136					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GTTTTTTTCCGCAAAACGAAG	0.383																																																0			6											119	114	116					6																	10995339		2203	4300	6503	11103325	SO:0001583	missense	54898			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.406C>T	6.37:g.10995339G>A	ENSP00000346693:p.Arg136Trp		11103325	Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831299	0.71258	.	.	ENSG00000197977	ENST00000354666	T	0.28255	1.62	5.75	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.71609	0.3360	H	0.99425	4.56	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.84664	0.0708	10	0.87932	D	0	-1.5591	17.6712	0.88218	0.0:0.0:0.8422:0.1578	.	136	Q9NXB9	ELOV2_HUMAN	W	136	ENSP00000346693:R136W	ENSP00000346693:R136W	R	-	1	2	ELOVL2	11103325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.713000	0.47194	2.716000	0.92895	0.655000	0.94253	CGG		0.383	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			A	10995339	G	A	10995339	3	1	386	1	0	0	0	0	1	0	0	0	5074	1086	38	1	500	1	ELOVL2	6	10995339	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09		10995339	160119728	27	21012											
MYLIP	29116	genome.wustl.edu	37	6	16145472	16145472	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr6:16145472G>T	ENST00000356840.3	+	6	1370	c.1172G>T	c.(1171-1173)tGc>tTc	p.C391F	MYLIP_ENST00000349606.4_Missense_Mutation_p.C210F	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	391					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ATGGTGTGCTGCGAGGAGGAG	0.612																																																0			6											103	90	94					6																	16145472		2203	4300	6503	16253451	SO:0001583	missense	29116			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1172G>T	6.37:g.16145472G>T	ENSP00000349298:p.Cys391Phe		16253451	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444806	0.83993	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	T;T	0.77229	-1.08;-1.08	5.63	5.63	0.86233	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	N	0.04746	-0.17	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.80582	-0.1318	10	0.56958	D	0.05	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	391	Q8WY64	MYLIP_HUMAN	F	391;210	ENSP00000349298:C391F;ENSP00000008686:C210F	ENSP00000008686:C210F	C	+	2	0	MYLIP	16253451	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.748000	0.98867	2.826000	0.97356	0.655000	0.94253	TGC		0.612	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		T	16145472	G	T	16145472	3	4	386	1	0	0	0	0	1	0	0	0	10055	1319	46	3	1194	3	MYLIP	6	16145472	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	5150133	16145472	154969595	28	21013											
ID4	3400	genome.wustl.edu	37	6	19838210	19838210	+	Silent	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr6:19838210G>A	ENST00000378700.3	+	1	594	c.225G>A	c.(223-225)ctG>ctA	p.L75L	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	75	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			ATAGCCGCCTGCGGAGGCTGG	0.672																																					Esophageal Squamous(13;105 518 19978 28644 46870)											0			6											34	34	34					6																	19838210		2202	4299	6501	19946189	SO:0001819	synonymous_variant	3400			U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"Basic helix-loop-helix proteins"	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.225G>A	6.37:g.19838210G>A			19946189	Q13005	Silent	SNP	ENST00000378700.3	37	CCDS4544.1																																																																																				0.672	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039979.1	NM_001546		A	19838210	G	A	19838210	2	1	386	1	0	0	0	0	0	0	0	1	7492	1306	46	2		2	ID4	6	19838210	Silent	SNP	G	TCGA-36-2534-01A-01D-1526-09	3692738	19838210	151276857	29	21014											
E2F3	1871	genome.wustl.edu	37	6	20490464	20490464	+	Missense_Mutation	SNP	G	G	T	rs151305307	byFrequency	TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr6:20490464G>T	ENST00000346618.3	+	7	1267	c.1201G>T	c.(1201-1203)Gcc>Tcc	p.A401S	E2F3_ENST00000535432.1_Missense_Mutation_p.A270S	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	401	Transactivation. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TTCTCCTCTGGCCTCCCCAGC	0.463																																																0			6						G	SER/ALA	1,4405	2.1+/-5.4	0,1,2202	66	65	65		1201	4.6	1	6	dbSNP_134	65	24,8576	17.3+/-56.4	0,24,4276	yes	missense	E2F3	NM_001949.4	99	0,25,6478	TT,TG,GG		0.2791,0.0227,0.1922	benign	401/466	20490464	25,12981	2203	4300	6503	20598443	SO:0001583	missense	1871			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1201G>T	6.37:g.20490464G>T	ENSP00000262904:p.Ala401Ser		20598443	Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	G	6.715	0.500703	0.12822	2.27E-4	0.002791	ENSG00000112242	ENST00000346618;ENST00000535432	T;T	0.05996	3.36;3.36	5.49	4.63	0.57726	.	0.222920	0.47852	D	0.000212	T	0.01558	0.0050	N	0.25647	0.755	0.38202	D	0.940218	B	0.17038	0.02	B	0.19148	0.024	T	0.37526	-0.9702	10	0.09590	T	0.72	.	10.922	0.47169	0.1445:0.0:0.8555:0.0	.	401	O00716	E2F3_HUMAN	S	401;270	ENSP00000262904:A401S;ENSP00000443418:A270S	ENSP00000262904:A401S	A	+	1	0	E2F3	20598443	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.805000	0.27112	1.461000	0.47929	-0.291000	0.09656	GCC		0.463	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			T	20490464	G	T	20490464	3	4	386	1	0	0	0	0	1	0	0	0	4868	1203	42	3	1227	3	E2F3	6	20490464	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	652254	20490464	150624603	30	21015											
HIST1H2BO	8348	genome.wustl.edu	37	6	27861369	27861369	+	Nonsense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr6:27861369C>G	ENST00000303806.4	+	1	167	c.129C>G	c.(127-129)taC>taG	p.Y43*	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	43					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTACGTGTACAAGGTGCTGA	0.547																																																0			6											158	144	149					6																	27861369		2203	4300	6503	27969348	SO:0001587	stop_gained	8348			X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.129C>G	6.37:g.27861369C>G	ENSP00000303408:p.Tyr43*		27969348	Q3KPI7|Q8TCV6	Nonsense_Mutation	SNP	ENST00000303806.4	37	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091109	0.55968	.	.	ENSG00000196331	ENST00000303806	.	.	.	3.55	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6676	0.45739	0.0:0.9011:0.0:0.0989	.	.	.	.	X	43	.	ENSP00000303408:Y43X	Y	+	3	2	HIST1H2BO	27969348	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	3.610000	0.54125	1.066000	0.40716	-0.291000	0.09656	TAC		0.547	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		G	27861369	C	G	27861369	4	3	386	1	0	0	0	0	0	1	0	0	7154	489	17	3	131	3	HIST1H2BO	6	27861369	Nonsense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	7370905	27861369	143253698	31	21016											
DHX16	8449	genome.wustl.edu	37	6	30638975	30638975	+	Missense_Mutation	SNP	C	C	A	rs138934886		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr6:30638975C>A	ENST00000376442.3	-	2	479	c.284G>T	c.(283-285)cGa>cTa	p.R95L		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	95					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CCTATAAGATCGGTTCTTCTC	0.542																																																0			6											207	250	235					6																	30638975		1509	2708	4217	30746954	SO:0001583	missense	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.284G>T	6.37:g.30638975C>A	ENSP00000365625:p.Arg95Leu		30746954	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277989	0.59758	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.22134	1.97;1.97	5.27	3.46	0.39613	.	0.136030	0.47455	N	0.000232	T	0.05686	0.0149	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08973	-1.0696	10	0.62326	D	0.03	.	8.8394	0.35133	0.1515:0.7682:0.0:0.0803	.	35;95	B4DZ28;O60231	.;DHX16_HUMAN	L	95;35	ENSP00000365625:R95L;ENSP00000399101:R35L	ENSP00000365625:R95L	R	-	2	0	DHX16	30746954	0.992000	0.36948	0.942000	0.38095	0.971000	0.66376	2.789000	0.47813	1.203000	0.43233	0.557000	0.71058	CGA		0.542	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		A	30638975	C	A	30638975	3	1	386	1	0	0	0	0	1	0	0	0	4502	884	31	3	2917	3	DHX16	6	30638975	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	2777606	30638975	140476092	32	21017											
MED20	9477	genome.wustl.edu	37	6	41877141	41877141	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr6:41877141T>G	ENST00000265350.4	-	3	369	c.289A>C	c.(289-291)Aag>Cag	p.K97Q	MED20_ENST00000409312.1_Missense_Mutation_p.K97Q|MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409060.1_Missense_Mutation_p.K97Q	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	97					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCTTGAGCTTCACCATAAGC	0.517																																																0			6											98	85	90					6																	41877141		2203	4300	6503	41985119	SO:0001583	missense	9477			AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.289A>C	6.37:g.41877141T>G	ENSP00000265350:p.Lys97Gln		41985119	B4DE08|O95821|Q5T8J4|Q9Y429	Missense_Mutation	SNP	ENST00000265350.4	37	CCDS4862.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.894753	0.91962	.	.	ENSG00000124641	ENST00000265350;ENST00000409312;ENST00000394251;ENST00000409060	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.86178	2.8	0.80722	D	1	D;D	0.71674	0.998;0.96	D;P	0.69824	0.966;0.742	T	0.81735	-0.0797	9	0.72032	D	0.01	-20.0291	16.0098	0.80391	0.0:0.0:0.0:1.0	.	97;97	B4DE08;Q9H944	.;MED20_HUMAN	Q	97;97;89;97	.	ENSP00000265350:K97Q	K	-	1	0	MED20	41985119	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.848000	0.69458	2.254000	0.74563	0.533000	0.62120	AAG		0.517	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040539.1	NM_004275		G	41877141	T	G	41877141	3	3	386	1	0	0	0	0	1	0	0	0	9438	1792	62	5	357	5	MED20	6	41877141	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	11238166	41877141	129237926	33	21018											
ENPP5	59084	genome.wustl.edu	37	6	46133125	46133125	+	Splice_Site	SNP	C	C	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr6:46133125C>A	ENST00000371383.2	-	4	1265	c.1005G>T	c.(1003-1005)ctG>ctT	p.L335L	ENPP5_ENST00000230565.3_Splice_Site_p.L335L|ENPP5_ENST00000492313.1_5'UTR					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CATACTCACACAGAAAGTCAT	0.328																																																0			6											183	159	167					6																	46133125		2203	4300	6503	46241084	SO:0001630	splice_region_variant	59084			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1006+1G>T	6.37:g.46133125C>A			46241084		Silent	SNP	ENST00000371383.2	37	CCDS4915.1																																																																																				0.328	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2		Silent	A	46133125	C	A	46133125	5	1	386	1	0	0	0	0	0	0	1	0	5133	492	17	3	436	3	ENPP5	6	46133125	Splice_Site	SNP	C	TCGA-36-2534-01A-01D-1526-09	4255984	46133125	124981942	34	21019											
HOXA13	3209	genome.wustl.edu	37	7	27238031	27238031	+	Missense_Mutation	SNP	G	G	T	rs146259736		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:27238031G>T	ENST00000222753.4	-	2	981	c.953C>A	c.(952-954)tCc>tAc	p.S318Y	HOTTIP_ENST00000521028.2_RNA|HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000472494.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	318					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CCTCCTATAGGAGCTGGCATC	0.507			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											Dom	yes		7	7p15-p14.2	3209	homeo box A13		L	0			7											89	91	90					7																	27238031		2203	4300	6503	27204556	SO:0001583	missense	3209				CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"Homeoboxes / ANTP class : HOXL subclass"	5102	protein-coding gene	gene with protein product		142959	"homeo box A13"	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.953C>A	7.37:g.27238031G>T	ENSP00000222753:p.Ser318Tyr	792	27204556	A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	37	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446822	0.84101	.	.	ENSG00000106031	ENST00000222753	T	0.57436	0.4	5.71	5.71	0.89125	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	M	0.81802	2.56	0.50313	D	0.999868	D	0.53885	0.963	P	0.61328	0.887	T	0.75645	-0.3246	10	0.62326	D	0.03	.	19.4604	0.94915	0.0:0.0:1.0:0.0	.	318	P31271	HXA13_HUMAN	Y	318	ENSP00000222753:S318Y	ENSP00000222753:S318Y	S	-	2	0	HOXA13	27204556	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.621000	0.83083	2.697000	0.92050	0.563000	0.77884	TCC		0.507	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			T	27238031	G	T	27238031	3	4	386	1	0	0	0	0	1	0	0	0	7291	1174	41	3	217	3	HOXA13	7	27238031	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09		27238031	131900632	35	21020											
CLIP2	7461	genome.wustl.edu	37	7	73771734	73771734	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:73771734A>T	ENST00000395060.1	+	5	1142	c.1142A>T	c.(1141-1143)gAg>gTg	p.E381V	CLIP2_ENST00000223398.6_Missense_Mutation_p.E381V|CLIP2_ENST00000361545.5_Missense_Mutation_p.E381V			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	381						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAACGGGCTGAGGTGGCCAAG	0.632																																																0			7											39	27	31					7																	73771734		2203	4299	6502	73409670	SO:0001583	missense	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1142A>T	7.37:g.73771734A>T	ENSP00000378500:p.Glu381Val		73409670	O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435025	0.83885	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.64991	-0.1;-0.13;-0.1	4.83	4.83	0.62350	.	0.054945	0.64402	D	0.000001	T	0.78811	0.4342	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;P	0.68039	0.955;0.903	T	0.82557	-0.0398	10	0.87932	D	0	-37.276	13.3683	0.60698	1.0:0.0:0.0:0.0	.	381;381	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	V	381	ENSP00000223398:E381V;ENSP00000355151:E381V;ENSP00000378500:E381V	ENSP00000223398:E381V	E	+	2	0	CLIP2	73409670	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	8.839000	0.92120	2.029000	0.59856	0.459000	0.35465	GAG		0.632	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		T	73771734	A	T	73771734	3	4	386	1	0	0	0	0	1	0	0	0	3533	304	11	5	1160	5	CLIP2	7	73771734	Missense_Mutation	SNP	A	TCGA-36-2534-01A-01D-1526-09	46533703	73771734	85366929	36	21021											
GTF2IRD2	84163	genome.wustl.edu	37	7	74234087	74234087	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:74234087A>T	ENST00000405086.2	-	8	856	c.667T>A	c.(667-669)Tct>Act	p.S223T	GTF2IRD2_ENST00000453619.2_Intron|GTF2IRD2_ENST00000361071.5_Missense_Mutation_p.S223T	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						TACCCACCAGAATCTTCCATG	0.567																																					NSCLC(40;560 1096 7501 40315 49546)											0			7											1	1	1					7																	74234087		26	53	79	73872023	SO:0001583	missense	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.667T>A	7.37:g.74234087A>T	ENSP00000385491:p.Ser223Thr		73872023	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Missense_Mutation	SNP	ENST00000405086.2	37	CCDS5576.1	.	.	.	.	.	.	.	.	.	.	A	10.93	1.488725	0.26686	.	.	ENSG00000196275	ENST00000405086;ENST00000361071	T;T	0.45668	2.91;0.89	2.61	-0.154	0.13399	.	.	.	.	.	T	0.34135	0.0887	M	0.66939	2.045	0.80722	D	1	B;B;B	0.29671	0.017;0.254;0.0	B;B;B	0.29077	0.007;0.098;0.0	T	0.08493	-1.0719	9	0.38643	T	0.18	.	3.9016	0.09164	0.6505:0.2159:0.1336:0.0	.	223;223;223	Q86UP8-3;Q86UP8-5;Q86UP8	.;.;GTD2A_HUMAN	T	223	ENSP00000385491:S223T;ENSP00000354362:S223T	ENSP00000354362:S223T	S	-	1	0	GTF2IRD2	73872023	0.823000	0.29233	0.861000	0.33841	0.815000	0.46073	0.716000	0.25836	-0.117000	0.11872	0.315000	0.21342	TCT		0.567	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		T	74234087	A	T	74234087	3	4	386	1	0	0	0	0	1	0	0	0	6869	246	9	5	2218	5	GTF2IRD2	7	74234087	Missense_Mutation	SNP	A	TCGA-36-2534-01A-01D-1526-09	462353	74234087	84904576	37	21022											
OCM2	4951	genome.wustl.edu	37	7	97617752	97617752	+	Missense_Mutation	SNP	C	C	A	rs201256816		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:97617752C>A	ENST00000257627.4	-	2	261	c.170G>T	c.(169-171)gGg>gTg	p.G57V	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	57	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						ATCCAGATACCCGCTCTGGTC	0.537													.|||	1	0.000199681	0	0	5008	,	,		17467	0.001		0	False		,,,				2504	0															0			7											162	129	141					7																	97617752		2203	4300	6503	97455688	SO:0001583	missense	4951			BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"EF-hand domain containing"	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.170G>T	7.37:g.97617752C>A	ENSP00000257627:p.Gly57Val		97455688	P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	CCDS5653.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	18.83	3.707682	0.68615	.	.	ENSG00000135175	ENST00000257627	D	0.81499	-1.5	3.98	3.98	0.46160	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94368	0.8189	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96746	0.9550	10	0.87932	D	0	-21.8956	14.8293	0.70135	0.0:1.0:0.0:0.0	.	57	P0CE71	OCM2_HUMAN	V	57	ENSP00000257627:G57V	ENSP00000257627:G57V	G	-	2	0	OCM2	97455688	1.000000	0.71417	0.979000	0.43373	0.855000	0.48748	5.432000	0.66514	2.074000	0.62210	0.472000	0.43445	GGG		0.537	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		A	97617752	C	A	97617752	3	1	386	1	0	0	0	0	1	0	0	0	10822	623	22	3	171	3	OCM2	7	97617752	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	23383665	97617752	61520911	38	21023											
AZGP1	563	genome.wustl.edu	37	7	99564733	99564733	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:99564733A>C	ENST00000292401.4	-	4	926	c.790T>G	c.(790-792)Tcc>Gcc	p.S264A	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	264	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACCACCCAGGACTGGTAAGTG	0.637																																																0			7											73	55	61					7																	99564733		2203	4300	6503	99402669	SO:0001583	missense	563			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.790T>G	7.37:g.99564733A>C	ENSP00000292401:p.Ser264Ala		99402669	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550384	0.27739	.	.	ENSG00000160862	ENST00000292401	T	0.02579	4.24	2.17	-3.92	0.04155	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.620952	0.12281	N	0.482886	T	0.01489	0.0048	N	0.13299	0.325	0.80722	D	1	B	0.02656	0.0	B	0.12837	0.008	T	0.48658	-0.9016	10	0.87932	D	0	.	1.0502	0.01578	0.2579:0.399:0.1461:0.197	.	264	P25311	ZA2G_HUMAN	A	264	ENSP00000292401:S264A	ENSP00000292401:S264A	S	-	1	0	AZGP1	99402669	0.002000	0.14202	0.987000	0.45799	0.166000	0.22503	-0.202000	0.09451	-0.415000	0.07484	-0.940000	0.02684	TCC		0.637	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		C	99564733	A	C	99564733	3	2	386	1	0	0	0	0	1	0	0	0	1239	275	10	5	110	5	AZGP1	7	99564733	Missense_Mutation	SNP	A	TCGA-36-2534-01A-01D-1526-09	1946981	99564733	59573930	39	21024											
EPHB4	2050	genome.wustl.edu	37	7	100411573	100411573	+	Silent	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:100411573C>G	ENST00000358173.3	-	9	2127	c.1659G>C	c.(1657-1659)ctG>ctC	p.L553L	EPHB4_ENST00000360620.3_Silent_p.L553L|EPHB4_ENST00000477446.1_5'Flank	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	553					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAATGACCACCAGGACCAGGA	0.637																																					GBM(200;2113 3072 25865 52728)											0			7											118	92	101					7																	100411573		2203	4300	6503	100249509	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1659G>C	7.37:g.100411573C>G			100249509	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	CCDS5706.1																																																																																				0.637	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		G	100411573	C	G	100411573	2	3	386	1	0	0	0	0	0	0	0	1	5177	581	21	3		3	EPHB4	7	100411573	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	846840	100411573	58727090	40	21025											
MUC17	140453	genome.wustl.edu	37	7	100685766	100685766	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:100685766G>A	ENST00000306151.4	+	3	11133	c.11069G>A	c.(11068-11070)aGt>aAt	p.S3690N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3690	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGACGCCTAGTGAAGGAAGC	0.512																																																0			7											212	201	205					7																	100685766		2203	4300	6503	100472486	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11069G>A	7.37:g.100685766G>A	ENSP00000302716:p.Ser3690Asn		100472486	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	7.497	0.651875	0.14516	.	.	ENSG00000169876	ENST00000306151	T	0.03035	4.07	0.814	-1.63	0.08345	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	P	0.38280	0.625	P	0.55161	0.77	T	0.50659	-0.8802	9	0.19147	T	0.46	.	5.2586	0.15561	0.0:0.6199:0.3801:0.0	.	3690	Q685J3	MUC17_HUMAN	N	3690	ENSP00000302716:S3690N	ENSP00000302716:S3690N	S	+	2	0	MUC17	100472486	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	-0.095000	0.11077	0.183000	0.20059	0.186000	0.17326	AGT		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100685766	G	A	100685766	3	1	386	1	0	0	0	0	1	0	0	0	9974	1029	36	2	11079	2	MUC17	7	100685766	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	274193	100685766	58452897	41	21026											
FOXP2	93986	genome.wustl.edu	37	7	114174756	114174756	+	Silent	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:114174756C>T	ENST00000393494.2	+	3	532	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	FOXP2_ENST00000403559.4_Silent_p.L85L|FOXP2_ENST00000360232.4_Silent_p.L85L|FOXP2_ENST00000393498.2_Silent_p.L85L|FOXP2_ENST00000393500.3_5'UTR|FOXP2_ENST00000378237.3_Silent_p.L85L|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000350908.4_Silent_p.L85L|FOXP2_ENST00000393489.3_5'UTR|FOXP2_ENST00000408937.3_Silent_p.L85L|FOXP2_ENST00000390668.3_Silent_p.L84L			O15409	FOXP2_HUMAN	forkhead box P2	85	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACAGAGACCACTGCAGGTTAG	0.388																																																0			7											97	100	99					7																	114174756		2203	4300	6503	113961992	SO:0001819	synonymous_variant	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.253C>T	7.37:g.114174756C>T			113961992	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	CCDS5760.1																																																																																				0.388	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		T	114174756	C	T	114174756	2	4	386	1	0	0	0	0	0	0	0	1	6027	564	20	2		2	FOXP2	7	114174756	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	13488990	114174756	44963907	42	21027											
HYAL4	23553	genome.wustl.edu	37	7	123509246	123509246	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:123509246G>A	ENST00000223026.4	+	3	1557	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	HYAL4_ENST00000476325.1_Missense_Mutation_p.G307R	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	307					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CACAAGGCTAGGGTACAGAGA	0.413																																																0			7											47	44	45					7																	123509246		2203	4300	6503	123296482	SO:0001583	missense	23553			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.919G>A	7.37:g.123509246G>A	ENSP00000223026:p.Gly307Arg		123296482	D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060124	0.55432	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.21361	2.01;2.01	5.89	5.89	0.94794	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.44542	1.39	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.75020	0.958;0.985	T	0.01675	-1.1298	9	.	.	.	-12.0053	20.2474	0.98399	0.0:0.0:1.0:0.0	.	307;307	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	R	307	ENSP00000223026:G307R;ENSP00000417186:G307R	.	G	+	1	0	HYAL4	123296482	1.000000	0.71417	0.310000	0.25168	0.002000	0.02628	7.958000	0.87877	2.763000	0.94921	0.655000	0.94253	GGG		0.413	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		A	123509246	G	A	123509246	3	1	386	1	0	0	0	0	1	0	0	0	7466	1000	35	2	921	2	HYAL4	7	123509246	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	9334490	123509246	35629417	43	21028											
ARF5	381	genome.wustl.edu	37	7	127231348	127231348	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:127231348C>T	ENST00000000233.5	+	6	692	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	FSCN3_ENST00000420086.2_5'Flank|FSCN3_ENST00000265825.5_5'Flank|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	180					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GCTGTCAAAGCGCTAACCAGC	0.627																																																0			7											34	31	32					7																	127231348		2203	4300	6503	127018584	SO:0001583	missense	381				CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"ADP-ribosylation factors"	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.538C>T	7.37:g.127231348C>T	ENSP00000000233:p.Arg180Cys		127018584	P26437	Missense_Mutation	SNP	ENST00000000233.5	37	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134772	0.77662	.	.	ENSG00000004059	ENST00000000233	T	0.68903	-0.36	5.21	5.21	0.72293	.	0.128592	0.52532	D	0.000066	T	0.79112	0.4391	M	0.89287	3.02	0.47476	D	0.999433	D	0.67145	0.996	P	0.50825	0.651	D	0.84365	0.0540	10	0.87932	D	0	.	16.6166	0.84917	0.0:1.0:0.0:0.0	.	180	P84085	ARF5_HUMAN	C	180	ENSP00000000233:R180C	ENSP00000000233:R180C	R	+	1	0	ARF5	127018584	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.713000	0.61895	2.590000	0.87494	0.561000	0.74099	CGC		0.627	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		T	127231348	C	T	127231348	3	4	386	1	0	0	0	0	1	0	0	0	847	768	27	1	560	1	ARF5	7	127231348	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	3722102	127231348	31907315	44	21029											
DGKI	9162	genome.wustl.edu	37	7	137269994	137269994	+	Silent	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr7:137269994G>A	ENST00000288490.5	-	14	1524	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	DGKI_ENST00000446122.1_Silent_p.P508P|DGKI_ENST00000424189.2_Silent_p.P508P|DGKI_ENST00000453654.2_Silent_p.P208P	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	508					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAGGCAAGTCGGGGTTTCTTT	0.478																																																0			7											154	143	147					7																	137269994		2203	4300	6503	136920534	SO:0001819	synonymous_variant	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1524C>T	7.37:g.137269994G>A			136920534	A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	CCDS5845.1																																																																																				0.478	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		A	137269994	G	A	137269994	2	1	386	1	0	0	0	0	0	0	0	1	4471	1103	39	1		1	DGKI	7	137269994	Silent	SNP	G	TCGA-36-2534-01A-01D-1526-09	10038646	137269994	21868669	45	21030											
DOCK5	80005	genome.wustl.edu	37	8	25261089	25261089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr8:25261089G>T	ENST00000276440.7	+	48	4986	c.4942G>T	c.(4942-4944)Gag>Tag	p.E1648*		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1648					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAACTTGACGGAGAGGAAGCA	0.542																																					Pancreas(145;34 1887 3271 10937 30165)											0			8											263	238	247					8																	25261089		2203	4300	6503	25317006	SO:0001587	stop_gained	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4942G>T	8.37:g.25261089G>T	ENSP00000276440:p.Glu1648*		25317006	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Nonsense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	42	9.530684	0.99196	.	.	ENSG00000147459	ENST00000276440	.	.	.	5.81	5.81	0.92471	.	0.366827	0.30556	N	0.009372	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	.	.	.	X	1648	.	ENSP00000276440:E1648X	E	+	1	0	DOCK5	25317006	1.000000	0.71417	0.893000	0.35052	0.075000	0.17131	7.341000	0.79300	2.746000	0.94184	0.655000	0.94253	GAG		0.542	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25261089	G	T	25261089	4	4	386	1	0	0	0	0	0	1	0	0	4690	1175	41	3	5132	3	DOCK5	8	25261089	Nonsense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09		25261089	121102933	46	21031											
ADRB3	155	genome.wustl.edu	37	8	37822813	37822813	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr8:37822813G>A	ENST00000345060.3	-	1	1670	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	ADRB3_ENST00000520341.1_5'UTR	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	392					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	CCTGGGCTGCGCTGGGCTGCT	0.731																																																0			8											5	5	5					8																	37822813		2093	4128	6221	37941970	SO:0001583	missense	155			AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"GPCR / Class A : Adrenoceptors : beta"	288	protein-coding gene	gene with protein product		109691	"adrenergic, beta-3-, receptor"			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.1175C>T	8.37:g.37822813G>A	ENSP00000343782:p.Ala392Val		37941970	Q4JFT4	Missense_Mutation	SNP	ENST00000345060.3	37	CCDS6099.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129582	0.37630	.	.	ENSG00000188778	ENST00000345060	T	0.56103	0.48	3.96	2.08	0.27032	.	74.219000	0.00166	N	0.000000	T	0.29652	0.0740	N	0.14661	0.345	0.09310	N	1	P	0.45078	0.85	B	0.33521	0.165	T	0.27331	-1.0077	10	0.16420	T	0.52	.	3.9621	0.09415	0.2153:0.0:0.5952:0.1894	.	392	P13945	ADRB3_HUMAN	V	392	ENSP00000343782:A392V	ENSP00000343782:A392V	A	-	2	0	ADRB3	37941970	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.177000	0.09796	0.317000	0.23160	-0.500000	0.04577	GCG		0.731	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025		A	37822813	G	A	37822813	3	1	386	1	0	0	0	0	1	0	0	0	342	1087	38	1	59	1	ADRB3	8	37822813	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	12561724	37822813	108541209	47	21032											
AP3M2	10947	genome.wustl.edu	37	8	42026496	42026496	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr8:42026496C>G	ENST00000518421.1	+	10	1465	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V	AP3M2_ENST00000174653.3_Missense_Mutation_p.L392V|AP3M2_ENST00000396926.3_Missense_Mutation_p.L392V|AP3M2_ENST00000520685.1_3'UTR	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	392	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGTGAATCGTCTGGATATGTA	0.423																																																0			8											107	108	108					8																	42026496		2203	4300	6503	42145653	SO:0001583	missense	10947			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.1174C>G	8.37:g.42026496C>G	ENSP00000428787:p.Leu392Val		42145653	B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812069	0.70797	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.72	5.72	0.89469	Clathrin adaptor, mu subunit, C-terminal (3);	0.069957	0.64402	N	0.000017	T	0.43411	0.1246	M	0.75884	2.315	0.80722	D	1	D	0.55172	0.97	P	0.59012	0.85	T	0.32348	-0.9910	10	0.72032	D	0.01	-15.1399	15.0609	0.71951	0.0:0.9302:0.0:0.0698	.	392	P53677	AP3M2_HUMAN	V	392;392;392;277	ENSP00000428787:L392V;ENSP00000174653:L392V;ENSP00000380132:L392V;ENSP00000430616:L277V	ENSP00000174653:L392V	L	+	1	2	AP3M2	42145653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.075000	0.50073	2.689000	0.91719	0.591000	0.81541	CTG		0.423	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			G	42026496	C	G	42026496	3	3	386	1	0	0	0	0	1	0	0	0	748	912	32	3	1204	3	AP3M2	8	42026496	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	4203683	42026496	104337526	48	21033											
FAM110B	90362	genome.wustl.edu	37	8	59059507	59059507	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr8:59059507G>A	ENST00000361488.3	+	5	1598	c.718G>A	c.(718-720)Gag>Aag	p.E240K	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	240						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAAGTCCCCCGAGGCCGACCC	0.617																																																0			8											84	94	91					8																	59059507		2203	4300	6503	59222061	SO:0001583	missense	90362			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.718G>A	8.37:g.59059507G>A	ENSP00000355204:p.Glu240Lys		59222061	Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	5.728	0.318828	0.10845	.	.	ENSG00000169122	ENST00000361488	T	0.31247	1.5	5.39	5.39	0.77823	.	0.446739	0.24150	N	0.041089	T	0.24547	0.0595	L	0.27053	0.805	0.21579	N	0.999635	B	0.23249	0.082	B	0.15052	0.012	T	0.07908	-1.0748	9	.	.	.	-15.1787	19.1266	0.93388	0.0:0.0:1.0:0.0	.	240	Q8TC76	F110B_HUMAN	K	240	ENSP00000355204:E240K	.	E	+	1	0	FAM110B	59222061	1.000000	0.71417	0.462000	0.27118	0.881000	0.50899	6.993000	0.76245	2.497000	0.84241	0.561000	0.74099	GAG		0.617	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		A	59059507	G	A	59059507	3	1	386	1	0	0	0	0	1	0	0	0	5397	1059	37	1	720	1	FAM110B	8	59059507	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	17033011	59059507	87304515	49	21034											
TRPA1	8989	genome.wustl.edu	37	8	72951154	72951154	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr8:72951154G>C	ENST00000262209.4	-	19	2448	c.2241C>G	c.(2239-2241)aaC>aaG	p.N747K	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	747					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGCCAGTTGAGTTGAAAGCCA	0.318																																																0			8											95	93	94					8																	72951154		2203	4300	6503	73113708	SO:0001583	missense	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2241C>G	8.37:g.72951154G>C	ENSP00000262209:p.Asn747Lys		73113708	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505919	0.64410	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.78126	-1.15;-1.15	5.14	0.517	0.17025	.	0.312985	0.38164	N	0.001794	T	0.80199	0.4579	L	0.55481	1.735	0.49389	D	0.999786	D	0.69078	0.997	P	0.61477	0.889	T	0.77520	-0.2557	10	0.62326	D	0.03	-27.2357	8.5582	0.33494	0.5634:0.0:0.4366:0.0	.	747	O75762	TRPA1_HUMAN	K	599;747	ENSP00000428151:N599K;ENSP00000262209:N747K	ENSP00000262209:N747K	N	-	3	2	TRPA1	73113708	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.388000	0.20735	0.102000	0.17638	0.650000	0.86243	AAC		0.318	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		C	72951154	G	C	72951154	3	2	386	1	0	0	0	0	1	0	0	0	16577	1020	36	3	1154	3	TRPA1	8	72951154	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	13891647	72951154	73412868	50	21035											
SAMD12	401474	genome.wustl.edu	37	8	119391936	119391936	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr8:119391936C>T	ENST00000314727.4	-	4	462	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	SAMD12_ENST00000527515.1_5'Flank|SAMD12_ENST00000409003.4_Missense_Mutation_p.R109Q|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	109	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CAGCAGGGCTCGCCCTGCAGG	0.478																																																0			8											78	74	75					8																	119391936		2203	4300	6503	119461117	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.326G>A	8.37:g.119391936C>T	ENSP00000314173:p.Arg109Gln		119461117	Q0P502	Missense_Mutation	SNP	ENST00000314727.4	37	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.800952|5.800952	0.96960|0.96960	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000526765|ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328	.|D;D;D;D	.|0.84873	.|-1.91;-1.91;-1.91;-1.91	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92296|0.92296	0.7556|0.7556	M|M	0.70787|0.70787	2.145|2.145	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.78314	.|0.988;0.991	D|D	0.90412|0.90412	0.4410|0.4410	5|9	.|.	.|.	.|.	-4.9277|-4.9277	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|109;109	.|B8ZZB7;Q8N8I0	.|.;SAM12_HUMAN	K|Q	124|109;101;109;109	.|ENSP00000387133:R109Q;ENSP00000435927:R101Q;ENSP00000314173:R109Q;ENSP00000431360:R109Q	.|.	E|R	-|-	1|2	0|0	SAMD12|SAMD12	119461117|119461117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.478	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		T	119391936	C	T	119391936	3	4	386	1	0	0	0	0	1	0	0	0	13820	884	31	1	310	1	SAMD12	8	119391936	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	46440782	119391936	26972086	51	21036											
TMEM71	137835	genome.wustl.edu	37	8	133764044	133764044	+	Missense_Mutation	SNP	C	C	G	rs551754127		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr8:133764044C>G	ENST00000356838.3	-	4	443	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	TMEM71_ENST00000377901.4_Missense_Mutation_p.E101Q|TMEM71_ENST00000523829.1_Missense_Mutation_p.E101Q|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	101						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACTAAGTTCTCCTTATACATA	0.383																																																0			8											139	128	132					8																	133764044		2203	4300	6503	133833226	SO:0001583	missense	137835			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.301G>C	8.37:g.133764044C>G	ENSP00000349296:p.Glu101Gln		133833226	Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404820	0.62288	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000522334;ENST00000519016	.	.	.	5.95	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.79240	0.4412	M	0.77103	2.36	0.38897	D	0.957241	D;D;D	0.89917	0.995;0.99;1.0	P;P;D	0.87578	0.799;0.68;0.998	D	0.83549	0.0100	9	0.87932	D	0	-12.2582	14.604	0.68463	0.0:0.8548:0.1452:0.0	.	101;101;101	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	Q	101;101;101;4;4	.	ENSP00000349296:E101Q	E	-	1	0	TMEM71	133833226	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	6.586000	0.74067	1.508000	0.48769	0.655000	0.94253	GAG		0.383	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		G	133764044	C	G	133764044	3	3	386	1	0	0	0	0	1	0	0	0	16200	864	30	3	614	3	TMEM71	8	133764044	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	14372108	133764044	12599978	52	21037											
TRAPPC9	83696	genome.wustl.edu	37	8	141436737	141436737	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr8:141436737G>A	ENST00000438773.2	-	5	996	c.863C>T	c.(862-864)gCa>gTa	p.A288V	TRAPPC9_ENST00000389327.3_Intron|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.A386V	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	288					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AACTTCCTGTGCCCCTGGAAG	0.313																																																0			8											147	140	142					8																	141436737		2203	4300	6503	141505919	SO:0001583	missense	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.863C>T	8.37:g.141436737G>A	ENSP00000405060:p.Ala288Val		141505919	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808926	0.50421	.	.	ENSG00000167632	ENST00000389328;ENST00000438773	.	.	.	5.39	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.34521	1.04	0.80722	D	1	B;P	0.35155	0.018;0.487	B;B	0.35470	0.035;0.203	T	0.47911	-0.9080	9	0.42905	T	0.14	.	14.1241	0.65208	0.0738:0.0:0.9262:0.0	.	288;386	Q96Q05;Q96Q05-2	TPPC9_HUMAN;.	V	386;288	.	ENSP00000373979:A386V	A	-	2	0	TRAPPC9	141505919	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.442000	0.80503	1.416000	0.47057	0.467000	0.42956	GCA		0.313	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		A	141436737	G	A	141436737	3	1	386	1	0	0	0	0	1	0	0	0	16465	1319	46	2	2659	2	TRAPPC9	8	141436737	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	7672693	141436737	4927285	53	21038											
ARHGAP39	80728	genome.wustl.edu	37	8	145773414	145773414	+	Silent	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr8:145773414C>T	ENST00000276826.5	-	4	1257	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	ARHGAP39_ENST00000540274.1_Silent_p.K352K|ARHGAP39_ENST00000377307.2_Silent_p.K352K|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	352	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACGGCCGGGGCTTACGGCCCG	0.697																																																0			8											14	14	14					8																	145773414		2168	4235	6403	145744222	SO:0001819	synonymous_variant	80728				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1056G>A	8.37:g.145773414C>T			145744222	B4E1I1	Silent	SNP	ENST00000276826.5	37																																																																																					0.697	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			T	145773414	C	T	145773414	2	4	386	1	0	0	0	0	0	0	0	1	884	796	28	2		2	ARHGAP39	8	145773414	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	4336677	145773414	590608	54	21039											
C9orf11	54586	genome.wustl.edu	37	9	27284732	27284732	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr9:27284732C>T	ENST00000380032.3	-	8	957	c.874G>A	c.(874-876)Gtt>Att	p.V292I	LINC00032_ENST00000425633.1_lincRNA|EQTN_ENST00000537675.1_Missense_Mutation_p.V263I	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	292					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											CACCGGGTAACCGACTCATCG	0.348																																																0			9											109	101	104					9																	27284732		2203	4300	6503	27274732	SO:0001583	missense	54586			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.874G>A	9.37:g.27284732C>T	ENSP00000369371:p.Val292Ile		27274732	B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	ENST00000380032.3	37	CCDS35001.1	.	.	.	.	.	.	.	.	.	.	.	0.028	-1.352403	0.01256	.	.	ENSG00000120160	ENST00000537675;ENST00000380032	T;T	0.32753	1.44;1.84	3.96	-7.91	0.01165	.	2.987710	0.01303	N	0.010367	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.16897	-1.0387	10	0.87932	D	0	.	1.3397	0.02152	0.3956:0.1017:0.1381:0.3646	.	263;292	B7ZMK1;Q9NQ60	.;AFAF_HUMAN	I	263;292	ENSP00000441630:V263I;ENSP00000369371:V292I	ENSP00000369371:V292I	V	-	1	0	C9orf11	27274732	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.427000	0.01026	-2.415000	0.00568	-0.411000	0.06167	GTT		0.348	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		T	27284732	C	T	27284732	3	4	386	1	0	0	0	0	1	0	0	0	2448	507	18	2	14	2	C9orf11	9	27284732	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09		27284732	113928699	55	21040											
GABBR2	9568	genome.wustl.edu	37	9	101470794	101470794	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr9:101470794C>G	ENST00000259455.2	-	1	685	c.226G>C	c.(226-228)Ggt>Cgt	p.G76R		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	76					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGGAGCACACCGCGCCCGATG	0.711																																																0			9											38	36	37					9																	101470794		2202	4299	6501	100510615	SO:0001583	missense	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.226G>C	9.37:g.101470794C>G	ENSP00000259455:p.Gly76Arg		100510615	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745657	0.69418	.	.	ENSG00000136928	ENST00000259455	T	0.20200	2.09	3.04	3.04	0.35103	.	0.000000	0.38058	U	0.001823	T	0.36608	0.0973	L	0.48362	1.52	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.16719	-1.0393	10	0.72032	D	0.01	.	11.5986	0.50988	0.0:1.0:0.0:0.0	.	76	O75899	GABR2_HUMAN	R	76	ENSP00000259455:G76R	ENSP00000259455:G76R	G	-	1	0	GABBR2	100510615	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.082000	0.64450	1.545000	0.49373	0.456000	0.33151	GGT		0.711	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			G	101470794	C	G	101470794	3	3	386	1	0	0	0	0	1	0	0	0	6156	652	23	3	2675	3	GABBR2	9	101470794	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	74186062	101470794	39742637	56	21041											
C9orf80	58493	genome.wustl.edu	37	9	115456490	115456490	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr9:115456490C>T	ENST00000374242.4	-	3	354	c.49G>A	c.(49-51)Gca>Aca	p.A17T	INIP_ENST00000374234.1_5'UTR|INIP_ENST00000374236.1_5'UTR|INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374238.1_5'UTR	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	17					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)											GCCAAGATTGCAACTCTATTT	0.353																																																0			9											131	122	125					9																	115456490		2203	4299	6502	114496311	SO:0001583	missense	58493			AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"hSSB-interacting protein 1", "sensor of single-strand DNA complex subunit C", "minute INTS3/hSSB-associated element"	613273	"chromosome 9 open reading frame 80"	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.49G>A	9.37:g.115456490C>T	ENSP00000363360:p.Ala17Thr		114496311	Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	ENST00000374242.4	37	CCDS6785.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691319	0.88735	.	.	ENSG00000148153	ENST00000374242	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	L	0.57536	1.79	0.80722	D	1	P	0.40534	0.72	B	0.40565	0.333	T	0.67425	-0.5674	9	0.59425	D	0.04	-11.5975	19.5958	0.95536	0.0:1.0:0.0:0.0	.	17	Q9NRY2	SOSSC_HUMAN	T	17	.	ENSP00000363360:A17T	A	-	1	0	C9orf80	114496311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.666000	0.74446	2.806000	0.96561	0.655000	0.94253	GCA		0.353	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053692.2	NM_021218		T	115456490	C	T	115456490	3	4	386	1	0	0	0	0	1	0	0	0	2498	710	25	2	277	2	C9orf80	9	115456490	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	13985696	115456490	25756941	57	21042											
COL27A1	85301	genome.wustl.edu	37	9	116930928	116930928	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr9:116930928C>A	ENST00000356083.3	+	3	1484	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	365	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACCAAAATCCCCAAAAGCCT	0.547																																																0			9											116	113	114					9																	116930928		2203	4300	6503	115970749	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1093C>A	9.37:g.116930928C>A	ENSP00000348385:p.Pro365Thr		115970749	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	c	6.773	0.511599	0.12944	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91068	-2.49;-2.78	4.69	2.61	0.31194	.	.	.	.	.	T	0.78773	0.4336	N	0.20986	0.625	0.09310	N	1	B;B	0.17038	0.001;0.02	B;B	0.12156	0.001;0.007	T	0.61544	-0.7041	9	0.02654	T	1	.	5.3647	0.16107	0.2653:0.6295:0.0:0.1053	.	365;312	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	T	365;365;312;312	ENSP00000348385:P365T;ENSP00000391328:P312T	ENSP00000348385:P365T	P	+	1	0	COL27A1	115970749	0.001000	0.12720	0.010000	0.14722	0.109000	0.19521	0.831000	0.27476	0.247000	0.21414	0.457000	0.33378	CCC		0.547	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	116930928	C	A	116930928	3	1	386	1	0	0	0	0	1	0	0	0	3685	623	22	3	1103	3	COL27A1	9	116930928	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	1474438	116930928	24282503	58	21043											
ABL1	25	genome.wustl.edu	37	9	133760930	133760930	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr9:133760930G>C	ENST00000318560.5	+	11	3634	c.3253G>C	c.(3253-3255)Gag>Cag	p.E1085Q		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1085	F-actin-binding.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGCCTTCCGAGAGGCCATCAA	0.562			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0			9											79	80	80					9																	133760930		2203	4300	6503	132750751	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3253G>C	9.37:g.133760930G>C	ENSP00000323315:p.Glu1085Gln		132750751	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142147	0.77775	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.45276	0.9;0.9	5.26	5.26	0.73747	F-actin binding (2);	0.049705	0.85682	D	0.000000	T	0.50599	0.1625	N	0.16833	0.445	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56774	-0.7923	10	0.59425	D	0.04	.	17.8543	0.88758	0.0:0.0:1.0:0.0	.	1085;1122	P00519;Q59FK4	ABL1_HUMAN;.	Q	900;1104;1085	ENSP00000361423:E1104Q;ENSP00000323315:E1085Q	ENSP00000323315:E1085Q	E	+	1	0	ABL1	132750751	1.000000	0.71417	0.947000	0.38551	0.995000	0.86356	7.984000	0.88150	2.457000	0.83068	0.555000	0.69702	GAG		0.562	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		C	133760930	G	C	133760930	3	2	386	1	0	0	0	0	1	0	0	0	92	943	33	3	3435	3	ABL1	9	133760930	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	16830002	133760930	7452501	59	21044											
OR13A1	79290	genome.wustl.edu	37	10	45799431	45799431	+	Missense_Mutation	SNP	G	G	A	rs201230704		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr10:45799431G>A	ENST00000553795.1	-	4	748	c.440C>T	c.(439-441)cCg>cTg	p.P147L	OR13A1_ENST00000374401.2_Missense_Mutation_p.P147L|OR13A1_ENST00000536058.1_Missense_Mutation_p.P147L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GTAATGCAGCGGGTGGCAGAT	0.632													G|||	1	0.000199681	0	0	5008	,	,		19298	0.001		0	False		,,,				2504	0															0			10											32	27	29					10																	45799431		2203	4300	6503	45119437	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.440C>T	10.37:g.45799431G>A	ENSP00000451950:p.Pro147Leu		45119437	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	12.27	1.888834	0.33348	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.01902	4.57;4.57;4.57	5.63	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.146445	0.31859	N	0.006944	T	0.07098	0.0180	M	0.93594	3.435	0.52501	D	0.999952	B	0.32101	0.356	B	0.33121	0.158	T	0.00657	-1.1623	10	0.72032	D	0.01	-47.7444	8.8766	0.35350	0.0784:0.0:0.7722:0.1494	.	147	Q8NGR1	O13A1_HUMAN	L	147	ENSP00000451950:P147L;ENSP00000438657:P147L;ENSP00000363522:P147L	ENSP00000311379:P147L	P	-	2	0	OR13A1	45119437	1.000000	0.71417	0.479000	0.27329	0.146000	0.21551	6.327000	0.72910	0.733000	0.32492	-0.141000	0.14075	CCG		0.632	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		A	45799431	G	A	45799431	3	1	386	1	0	0	0	0	1	0	0	0	10933	1116	39	1	550	1	OR13A1	10	45799431	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09		45799431	89735316	60	21045											
BTAF1	9044	genome.wustl.edu	37	10	93702253	93702253	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr10:93702253A>G	ENST00000265990.6	+	4	636	c.328A>G	c.(328-330)Aga>Gga	p.R110G		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	110					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGATATATGTAGATTGTTACA	0.373																																																0			10											126	123	124					10																	93702253		2203	4300	6503	93692233	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.328A>G	10.37:g.93702253A>G	ENSP00000265990:p.Arg110Gly		93692233	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952216	0.53293	.	.	ENSG00000095564	ENST00000265990	D	0.90197	-2.63	5.71	4.57	0.56435	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85818	0.5785	L	0.52905	1.665	0.80722	D	1	P	0.44946	0.846	B	0.35114	0.196	T	0.82922	-0.0217	10	0.31617	T	0.26	-8.301	12.5871	0.56424	0.6733:0.3267:0.0:0.0	.	110	O14981	BTAF1_HUMAN	G	110	ENSP00000265990:R110G	ENSP00000265990:R110G	R	+	1	2	BTAF1	93692233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.935000	0.63498	0.968000	0.38212	-0.321000	0.08615	AGA		0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		G	93702253	A	G	93702253	3	3	386	1	0	0	0	0	1	0	0	0	1536	412	15	4	342	4	BTAF1	10	93702253	Missense_Mutation	SNP	A	TCGA-36-2534-01A-01D-1526-09	47902822	93702253	41832494	61	21046											
PKD2L1	9033	genome.wustl.edu	37	10	102053121	102053121	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr10:102053121T>C	ENST00000318222.3	-	10	2057	c.1675A>G	c.(1675-1677)Atc>Gtc	p.I559V	PKD2L1_ENST00000353274.3_Missense_Mutation_p.I559V|PKD2L1_ENST00000338519.3_Missense_Mutation_p.I484V	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	559					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCATTGATGATGGCCAGGAAC	0.507																																																0			10											151	128	136					10																	102053121		2203	4300	6503	102043111	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1675A>G	10.37:g.102053121T>C	ENSP00000325296:p.Ile559Val		102043111	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632772	0.87660	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.69306	-0.39;-0.39;-0.39	5.67	5.67	0.87782	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.64170	1.965	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.78021	-0.2367	10	0.37606	T	0.19	-26.0684	15.153	0.72717	0.0:0.0:0.0:1.0	.	512;559	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	V	484;559;559;557	ENSP00000345068:I484V;ENSP00000266049:I559V;ENSP00000325296:I559V	ENSP00000325296:I559V	I	-	1	0	PKD2L1	102043111	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.982000	0.88131	2.185000	0.69588	0.529000	0.55759	ATC		0.507	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		C	102053121	T	C	102053121	3	2	386	1	0	0	0	0	1	0	0	0	11967	1464	51	4	770	4	PKD2L1	10	102053121	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	8350868	102053121	33481626	62	21047											
PNLIPRP3	119548	genome.wustl.edu	37	10	118236316	118236316	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr10:118236316G>C	ENST00000369230.3	+	11	1471	c.1325G>C	c.(1324-1326)gGg>gCg	p.G442A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	442	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AATACATCTGGGAAATATGGA	0.308																																																0			10											87	95	92					10																	118236316		2203	4300	6503	118226306	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1325G>C	10.37:g.118236316G>C	ENSP00000358232:p.Gly442Ala		118226306		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760326	0.49468	.	.	ENSG00000203837	ENST00000369230	D	0.89681	-2.55	4.07	4.07	0.47477	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.142425	0.29066	N	0.013252	D	0.93236	0.7845	M	0.81497	2.545	0.32642	N	0.520538	D	0.54207	0.965	P	0.61722	0.893	D	0.94427	0.7646	10	0.46703	T	0.11	.	14.007	0.64470	0.0:0.0:1.0:0.0	.	442	Q17RR3	LIPR3_HUMAN	A	442	ENSP00000358232:G442A	ENSP00000358232:G442A	G	+	2	0	PNLIPRP3	118226306	1.000000	0.71417	0.993000	0.49108	0.623000	0.37688	3.057000	0.49931	2.208000	0.71279	0.655000	0.94253	GGG		0.308	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		C	118236316	G	C	118236316	3	2	386	1	0	0	0	0	1	0	0	0	12152	1232	43	3	1367	3	PNLIPRP3	10	118236316	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	16183195	118236316	17298431	63	21048											
SIRT3	23410	genome.wustl.edu	37	11	236209	236209	+	Silent	SNP	A	A	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:236209A>T	ENST00000382743.4	-	1	222	c.120T>A	c.(118-120)ctT>ctA	p.L40L	PSMD13_ENST00000352303.5_5'Flank|PSMD13_ENST00000532097.1_5'Flank|SIRT3_ENST00000524564.1_Silent_p.L40L|SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000525319.1_Silent_p.L40L|PSMD13_ENST00000431206.2_5'Flank|SIRT3_ENST00000532956.1_Silent_p.L40L|SIRT3_ENST00000528702.1_Intron	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	40					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCCTGCCGCCAAGCACCAGCC	0.751																																																0			11											7	10	9					11																	236209		2085	4097	6182	226209	SO:0001819	synonymous_variant	23410			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.120T>A	11.37:g.236209A>T			226209	B7Z5U6|Q9Y6E8	Silent	SNP	ENST00000382743.4	37	CCDS7691.1																																																																																				0.751	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			T	236209	A	T	236209	2	4	386	1	0	0	0	0	0	0	0	1	14342	117	5	5		5	SIRT3	11	236209	Silent	SNP	A	TCGA-36-2534-01A-01D-1526-09		236209	134770307	64	21049											
LRRC56	115399	genome.wustl.edu	37	11	552165	552165	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:552165G>A	ENST00000270115.7	+	12	1614	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	372								p.D372Y(1)		kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGAGCCTGACCCTGCAGA	0.662																																																1	Substitution - Missense(1)	lung(1)	11											39	44	42					11																	552165		2200	4299	6499	542165	SO:0001583	missense	115399				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1114G>A	11.37:g.552165G>A	ENSP00000270115:p.Asp372Asn		542165	Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028838	0.75504	.	.	ENSG00000161328	ENST00000270115	T	0.12569	2.67	4.38	2.5	0.30297	.	1.058730	0.07412	N	0.892577	T	0.10508	0.0257	L	0.29908	0.895	0.09310	N	1	B	0.21821	0.061	B	0.15870	0.014	T	0.34403	-0.9830	10	0.39692	T	0.17	-0.6605	6.0944	0.20013	0.3172:0.0:0.6828:0.0	.	372	Q8IYG6	LRC56_HUMAN	N	372	ENSP00000270115:D372N	ENSP00000270115:D372N	D	+	1	0	LRRC56	542165	0.044000	0.20184	0.006000	0.13384	0.666000	0.39218	2.308000	0.43690	0.601000	0.29879	0.561000	0.74099	GAC		0.662	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		A	552165	G	A	552165	3	1	386	1	0	0	0	0	1	0	0	0	9012	1290	45	2	1148	2	LRRC56	11	552165	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	315956	552165	134454351	65	21050											
PPFIBP2	8495	genome.wustl.edu	37	11	7661068	7661068	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:7661068C>T	ENST00000299492.4	+	15	1730	c.1342C>T	c.(1342-1344)Cct>Tct	p.P448S	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P336S|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P305S|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P290S	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	448					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CATCTGCCAGCCTGACGCCAC	0.572																																																0			11											81	82	82					11																	7661068		2201	4296	6497	7617644	SO:0001583	missense	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1342C>T	11.37:g.7661068C>T	ENSP00000299492:p.Pro448Ser		7617644	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.49|11.49	1.655033|1.655033	0.29425|0.29425	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000534409|ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000530081	.|T;T;T;T	.|0.29397	.|2.0;1.58;1.99;1.57	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.887919	.|0.09875	.|N	.|0.744382	T|T	0.26702|0.26702	0.0653|0.0653	L|L	0.43152|0.43152	1.355|1.355	0.31229|0.31229	N|N	0.69652|0.69652	.|B;B;B;B;B;B	.|0.19331	.|0.027;0.001;0.035;0.001;0.001;0.019	.|B;B;B;B;B;B	.|0.16289	.|0.007;0.001;0.015;0.001;0.002;0.007	T|T	0.18524|0.18524	-1.0334|-1.0334	5|10	.|0.06891	.|T	.|0.86	-0.4494|-0.4494	14.7129|14.7129	0.69247|0.69247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|336;336;371;290;305;448	.|E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.|.;.;.;.;.;LIPB2_HUMAN	V|S	127|448;290;290;371;336;305;92	.|ENSP00000299492:P448S;ENSP00000436498:P290S;ENSP00000435469:P336S;ENSP00000437321:P305S	.|ENSP00000299492:P448S	A|P	+|+	2|1	0|0	PPFIBP2|PPFIBP2	7617644|7617644	0.000000|0.000000	0.05858|0.05858	0.840000|0.840000	0.33206|0.33206	0.055000|0.055000	0.15305|0.15305	0.470000|0.470000	0.22084|0.22084	2.743000|2.743000	0.94032|0.94032	0.650000|0.650000	0.86243|0.86243	GCC|CCT		0.572	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		T	7661068	C	T	7661068	3	4	386	1	0	0	0	0	1	0	0	0	12314	739	26	2	1396	2	PPFIBP2	11	7661068	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	7108903	7661068	127345448	66	21051											
OR5A1	219982	genome.wustl.edu	37	11	59211067	59211067	+	Silent	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:59211067C>T	ENST00000302030.2	+	1	451	c.426C>T	c.(424-426)ggC>ggT	p.G142G		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGACCCAGGGCCTCTGTACAC	0.562																																																0			11											262	244	250					11																	59211067		2201	4295	6496	58967643	SO:0001819	synonymous_variant	219982			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.426C>T	11.37:g.59211067C>T			58967643	B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	CCDS31561.1																																																																																				0.562	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		T	59211067	C	T	59211067	2	4	386	1	0	0	0	0	0	0	0	1	11139	726	26	2		2	OR5A1	11	59211067	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	51549999	59211067	75795449	67	21052											
EML3	256364	genome.wustl.edu	37	11	62374563	62374563	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:62374563C>G	ENST00000394773.2	-	12	1678	c.1371G>C	c.(1369-1371)aaG>aaC	p.K457N	EML3_ENST00000531557.1_Missense_Mutation_p.K240N|EML3_ENST00000494176.2_Missense_Mutation_p.K429N|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000278845.4_Missense_Mutation_p.K458N|EML3_ENST00000529309.1_Missense_Mutation_p.K457N	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	457						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTTGGGTTTCTTGTATTTCT	0.532																																																0			11											75	78	77					11																	62374563		2202	4299	6501	62131139	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1371G>C	11.37:g.62374563C>G	ENSP00000378254:p.Lys457Asn		62131139	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.977000|3.977000	0.74360|0.74360	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T	.|0.27720	.|1.7;1.65;1.65;1.65;1.65	5.22|5.22	5.22|5.22	0.72569|0.72569	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46737|0.46737	0.1408|0.1408	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;B;D;D	.|0.76494	.|0.997;0.987;0.058;0.999;0.999	.|D;P;B;D;D	.|0.78314	.|0.958;0.87;0.039;0.991;0.943	T|T	0.45614|0.45614	-0.9249|-0.9249	5|10	.|0.87932	.|D	.|0	-20.0625|-20.0625	16.2719|16.2719	0.82626|0.82626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|457;457;240;458;429	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	Q|N	452|457;458;240;429;457	.|ENSP00000378254:K457N;ENSP00000278845:K458N;ENSP00000433417:K240N;ENSP00000435064:K429N;ENSP00000434513:K457N	.|ENSP00000278845:K458N	E|K	-|-	1|3	0|2	EML3|EML3	62131139|62131139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	3.113000|3.113000	0.50376|0.50376	2.447000|2.447000	0.82792|0.82792	0.467000|0.467000	0.42956|0.42956	GAA|AAG		0.532	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		G	62374563	C	G	62374563	3	3	386	1	0	0	0	0	1	0	0	0	5098	912	32	3	1363	3	EML3	11	62374563	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	3163496	62374563	72631953	68	21053											
SLC22A6	9356	genome.wustl.edu	37	11	62747321	62747321	+	Silent	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:62747321C>G	ENST00000377871.3	-	7	1403	c.1137G>C	c.(1135-1137)ctG>ctC	p.L379L	SLC22A6_ENST00000360421.4_Silent_p.L379L|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Silent_p.L379L|SLC22A6_ENST00000458333.2_Silent_p.L379L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	379					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCTTGGCAGGCAGGTCCACAG	0.572																																																0			11											67	64	65					11																	62747321		2201	4298	6499	62503897	SO:0001819	synonymous_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1137G>C	11.37:g.62747321C>G			62503897	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	CCDS31591.1																																																																																				0.572	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		G	62747321	C	G	62747321	2	3	386	1	0	0	0	0	0	0	0	1	14461	697	25	3		3	SLC22A6	11	62747321	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	372758	62747321	72259195	69	21054											
OVOL1	5017	genome.wustl.edu	37	11	65554906	65554906	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:65554906A>T	ENST00000335987.3	+	1	414	c.62A>T	c.(61-63)gAg>gTg	p.E21V	RP11-770G2.4_ENST00000527453.1_RNA|RP11-770G2.4_ENST00000534178.1_RNA|RP11-770G2.4_ENST00000532454.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	21					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		AACTGGAGCGAGCTCCCCGAC	0.701																																																0			11											29	29	29					11																	65554906		2188	4287	6475	65311482	SO:0001583	missense	5017			BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"Zinc fingers, C2H2-type"	8525	protein-coding gene	gene with protein product		602313	"ovo (Drosophila) homolog-like 1", "ovo-like 1(Drosophila)"			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.62A>T	11.37:g.65554906A>T	ENSP00000337862:p.Glu21Val		65311482	Q6PCB1	Missense_Mutation	SNP	ENST00000335987.3	37	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422768	0.83559	.	.	ENSG00000172818	ENST00000335987	T	0.12774	2.65	3.49	3.49	0.39957	.	0.000000	0.49916	U	0.000131	T	0.30978	0.0782	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.03095	-1.1073	10	0.72032	D	0.01	-25.3494	9.9743	0.41774	1.0:0.0:0.0:0.0	.	21	O14753	OVOL1_HUMAN	V	21	ENSP00000337862:E21V	ENSP00000337862:E21V	E	+	2	0	OVOL1	65311482	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.716000	0.61916	1.233000	0.43693	0.363000	0.22086	GAG		0.701	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		T	65554906	A	T	65554906	3	4	386	1	0	0	0	0	1	0	0	0	11326	304	11	5	64	5	OVOL1	11	65554906	Missense_Mutation	SNP	A	TCGA-36-2534-01A-01D-1526-09	2807585	65554906	69451610	70	21055											
TPCN2	219931	genome.wustl.edu	37	11	68853169	68853169	+	Silent	SNP	T	T	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:68853169T>C	ENST00000294309.3	+	21	1970	c.1869T>C	c.(1867-1869)tgT>tgC	p.C623C	TPCN2_ENST00000542467.1_Intron|MIR3164_ENST00000581178.1_RNA|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	623					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGCGCCCTGTGGGAGCTTCG	0.662																																																0			11											66	72	70					11																	68853169		2200	4294	6494	68609745	SO:0001819	synonymous_variant	219931			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1869T>C	11.37:g.68853169T>C			68609745	Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	T	6.709	0.499558	0.12762	.	.	ENSG00000162341	ENST00000356782	.	.	.	3.77	-0.166	0.13351	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61232	-0.7104	5	0.87932	D	0	-14.1638	7.9767	0.30159	0.0:0.3302:0.0:0.6698	.	.	.	.	R	455	.	ENSP00000349231:W455R	W	+	1	0	TPCN2	68609745	0.952000	0.32445	0.875000	0.34327	0.620000	0.37586	-0.044000	0.12023	-0.172000	0.10779	-0.441000	0.05720	TGG		0.662	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		C	68853169	T	C	68853169	2	2	386	1	0	0	0	0	0	0	0	1	16396	1702	59	4		4	TPCN2	11	68853169	Silent	SNP	T	TCGA-36-2534-01A-01D-1526-09	3298263	68853169	66153347	71	21056											
SLC36A4	120103	genome.wustl.edu	37	11	92887287	92887287	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:92887287C>A	ENST00000326402.4	-	10	1324	c.1194G>T	c.(1192-1194)ttG>ttT	p.L398F	SLC36A4_ENST00000529184.1_Missense_Mutation_p.L263F	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	398					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAATACTAACCAAGAAGGATC	0.274																																																0			11											57	60	59					11																	92887287		2197	4290	6487	92526935	SO:0001583	missense	120103			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1194G>T	11.37:g.92887287C>A	ENSP00000317382:p.Leu398Phe		92526935	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584820	0.65992	.	.	ENSG00000180773	ENST00000326402;ENST00000529184	T;T	0.03330	3.97;3.97	5.8	4.79	0.61399	.	0.000000	0.64402	D	0.000003	T	0.13286	0.0322	M	0.67625	2.065	0.47441	D	0.999425	D	0.89917	1.0	D	0.81914	0.995	T	0.00024	-1.2325	10	0.87932	D	0	-7.0926	7.9933	0.30252	0.0:0.7036:0.1573:0.1391	.	398	Q6YBV0	S36A4_HUMAN	F	398;263	ENSP00000317382:L398F;ENSP00000436570:L263F	ENSP00000317382:L398F	L	-	3	2	SLC36A4	92526935	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	-0.018000	0.12568	2.748000	0.94277	0.655000	0.94253	TTG		0.274	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			A	92887287	C	A	92887287	3	1	386	1	0	0	0	0	1	0	0	0	14599	593	21	3	328	3	SLC36A4	11	92887287	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	24034118	92887287	42119229	72	21057											
SCN4B	6330	genome.wustl.edu	37	11	118014566	118014566	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr11:118014566G>C	ENST00000324727.4	-	3	591	c.445C>G	c.(445-447)Ctc>Gtc	p.L149V	SCN4B_ENST00000423160.2_5'Flank|SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	149					AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ACGACTTGGAGGAAGATGGTG	0.552																																																0			11											182	174	177					11																	118014566		2200	4296	6496	117519776	SO:0001583	missense	6330			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10592	protein-coding gene	gene with protein product		608256	"sodium channel, voltage-gated, type IV, beta"				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.445C>G	11.37:g.118014566G>C	ENSP00000322460:p.Leu149Val		117519776	E9PPT5|Q6PIG5	Missense_Mutation	SNP	ENST00000324727.4	37	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233231	0.79688	.	.	ENSG00000177098	ENST00000324727	D	0.97161	-4.27	4.44	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97185	0.9080	M	0.71581	2.175	0.80722	D	1	P	0.46142	0.873	P	0.50754	0.649	D	0.97340	0.9956	10	0.49607	T	0.09	-6.9475	15.925	0.79609	0.0:0.0:1.0:0.0	.	149	Q8IWT1	SCN4B_HUMAN	V	149	ENSP00000322460:L149V	ENSP00000322460:L149V	L	-	1	0	SCN4B	117519776	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.167000	0.89668	2.021000	0.59480	0.558000	0.71614	CTC		0.552	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1			C	118014566	G	C	118014566	3	2	386	1	0	0	0	0	1	0	0	0	13924	1000	35	3	253	3	SCN4B	11	118014566	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	25127279	118014566	16991950	73	21058											
ITFG2	55846	genome.wustl.edu	37	12	2930926	2930926	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr12:2930926C>G	ENST00000228799.2	+	9	1055	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	ITFG2_ENST00000542548.1_Missense_Mutation_p.Q194E|ITFG2_ENST00000419778.2_Missense_Mutation_p.Q129E	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	306					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGTGGATCACCAGCTCTTTGC	0.537																																																0			12											138	129	132					12																	2930926		2203	4300	6503	2801187	SO:0001583	missense	55846			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.916C>G	12.37:g.2930926C>G	ENSP00000228799:p.Gln306Glu		2801187	A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250358	0.59212	.	.	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	T;T;T	0.70282	-0.47;2.33;2.33	5.21	5.21	0.72293	.	0.054843	0.85682	D	0.000000	T	0.72534	0.3472	M	0.74647	2.275	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.71104	-0.4689	10	0.59425	D	0.04	-6.9827	17.8095	0.88611	0.0:1.0:0.0:0.0	.	306	Q969R8	ITFG2_HUMAN	E	306;129;194	ENSP00000228799:Q306E;ENSP00000401103:Q129E;ENSP00000437870:Q194E	ENSP00000228799:Q306E	Q	+	1	0	ITFG2	2801187	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.760000	0.85248	2.439000	0.82584	0.449000	0.29647	CAG		0.537	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		G	2930926	C	G	2930926	3	3	386	1	0	0	0	0	1	0	0	0	7870	595	21	3	950	3	ITFG2	12	2930926	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09		2930926	130920969	74	21059											
SILV	6490	genome.wustl.edu	37	12	56355206	56355206	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr12:56355206G>C	ENST00000548747.1	-	3	891	c.229C>G	c.(229-231)Ctg>Gtg	p.L77V	PMEL_ENST00000550447.1_Missense_Mutation_p.L40V|PMEL_ENST00000548493.1_Missense_Mutation_p.L77V|PMEL_ENST00000360714.4_Missense_Mutation_p.L77V|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.L77V|PMEL_ENST00000449260.2_Missense_Mutation_p.L77V|PMEL_ENST00000536427.1_Missense_Mutation_p.L77V|PMEL_ENST00000550464.1_Intron			P40967	PMEL_HUMAN	premelanosome protein	77					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCACCAATCAGTGTAGGCCCA	0.498																																																0			12											169	149	155					12																	56355206		2203	4300	6503	54641473	SO:0001583	missense	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.229C>G	12.37:g.56355206G>C	ENSP00000448828:p.Leu77Val		54641473	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	g	14.88	2.666097	0.47677	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000549418;ENST00000549233	T;T;T;T;T;T;T;T	0.58358	2.05;1.99;1.99;1.99;2.06;1.71;0.34;1.15	5.15	4.24	0.50183	.	0.000000	0.39985	N	0.001209	T	0.69566	0.3125	M	0.81112	2.525	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.72340	-0.4323	10	0.87932	D	0	-11.0054	7.9927	0.30250	0.0852:0.0:0.7529:0.1618	.	77;77	P40967-2;P40967	.;PMEL_HUMAN	V	77;77;77;77;77;77;40;77;77;77;80	ENSP00000402758:L77V;ENSP00000449690:L77V;ENSP00000448828:L77V;ENSP00000447374:L77V;ENSP00000353940:L77V;ENSP00000438695:L77V;ENSP00000447732:L77V;ENSP00000448849:L77V	ENSP00000353940:L77V	L	-	1	2	PMEL	54641473	0.994000	0.37717	0.969000	0.41365	0.978000	0.69477	2.172000	0.42463	2.560000	0.86352	0.643000	0.83706	CTG		0.498	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		C	56355206	G	C	56355206	3	2	386	1	0	0	0	0	1	0	0	0	14325	1020	36	3	1792	3	SILV	12	56355206	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	53424280	56355206	77496689	75	21060											
STAT2	6773	genome.wustl.edu	37	12	56742953	56742953	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr12:56742953G>T	ENST00000314128.4	-	16	1457	c.1434C>A	c.(1432-1434)aaC>aaA	p.N478K	STAT2_ENST00000418572.2_Intron|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.N474K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	478					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CTACCTGAAGGTTTGGGCTGA	0.562																																																0			12											96	96	96					12																	56742953		2203	4300	6503	55029220	SO:0001583	missense	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1434C>A	12.37:g.56742953G>T	ENSP00000315768:p.Asn478Lys		55029220	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	9.723	1.160183	0.21454	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337	D;D	0.86627	-2.15;-2.15	5.29	-2.06	0.07298	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.457877	0.24003	N	0.042450	T	0.71091	0.3299	N	0.19112	0.55	0.80722	D	1	B;B	0.18166	0.026;0.021	B;B	0.23018	0.043;0.038	T	0.51810	-0.8658	10	0.40728	T	0.16	-1.9605	2.9621	0.05896	0.2962:0.1146:0.4729:0.1163	.	474;478	G3V2M6;P52630	.;STAT2_HUMAN	K	478;474;280	ENSP00000315768:N478K;ENSP00000450751:N474K	ENSP00000315768:N478K	N	-	3	2	STAT2	55029220	0.534000	0.26362	0.941000	0.38009	0.133000	0.20885	0.193000	0.17116	-0.043000	0.13513	-0.251000	0.11542	AAC		0.562	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		T	56742953	G	T	56742953	3	4	386	1	0	0	0	0	1	0	0	0	15267	1252	44	3	1157	3	STAT2	12	56742953	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	387747	56742953	77108942	76	21061											
EFS	10278	genome.wustl.edu	37	14	23829010	23829010	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr14:23829010G>A	ENST00000216733.3	-	4	1284	c.677C>T	c.(676-678)gCg>gTg	p.A226V	EFS_ENST00000351354.3_Missense_Mutation_p.A133V|EFS_ENST00000429593.2_Intron|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	226	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TAAGGCTGACGCTCGTTTCAG	0.627																																																0			14											47	56	53					14																	23829010		2203	4290	6493	22898850	SO:0001583	missense	10278			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.677C>T	14.37:g.23829010G>A	ENSP00000216733:p.Ala226Val		22898850	B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095333	0.36952	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.58940	0.3;0.94	4.88	4.88	0.63580	.	0.923163	0.09277	N	0.824255	T	0.68485	0.3006	L	0.46741	1.465	0.80722	D	1	D;P	0.89917	1.0;0.66	D;B	0.85130	0.997;0.095	T	0.55842	-0.8077	10	0.25751	T	0.34	-8.942	10.5283	0.44963	0.0898:0.0:0.9102:0.0	.	133;226	O43281-2;O43281	.;EFS_HUMAN	V	226;133	ENSP00000216733:A226V;ENSP00000340607:A133V	ENSP00000216733:A226V	A	-	2	0	EFS	22898850	1.000000	0.71417	0.864000	0.33941	0.013000	0.08279	4.268000	0.58883	2.547000	0.85894	0.563000	0.77884	GCG		0.627	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			A	23829010	G	A	23829010	3	1	386	1	0	0	0	0	1	0	0	0	4959	1087	38	1	1020	1	EFS	14	23829010	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09		23829010	83520530	77	21062											
CTSG	1511	genome.wustl.edu	37	14	25044514	25044514	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr14:25044514C>A	ENST00000216336.2	-	2	196	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	54	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCTTCTCGCACCAGGAACCCT	0.602																																																0			14											113	105	108					14																	25044514		2203	4300	6503	24114354	SO:0001583	missense	1511			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.160G>T	14.37:g.25044514C>A	ENSP00000216336:p.Val54Leu		24114354	Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166377	0.78339	.	.	ENSG00000100448	ENST00000216336	D	0.92595	-3.07	5.38	5.38	0.77491	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34507	N	0.003903	D	0.90099	0.6907	N	0.05199	-0.095	0.44728	D	0.997725	B	0.32893	0.389	P	0.52309	0.695	D	0.90569	0.4521	10	0.66056	D	0.02	.	15.0163	0.71588	0.0:1.0:0.0:0.0	.	54	P08311	CATG_HUMAN	L	54	ENSP00000216336:V54L	ENSP00000216336:V54L	V	-	1	0	CTSG	24114354	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	1.549000	0.36212	2.687000	0.91594	0.655000	0.94253	GTG		0.602	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		A	25044514	C	A	25044514	3	1	386	1	0	0	0	0	1	0	0	0	4035	507	18	3	623	3	CTSG	14	25044514	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	1215504	25044514	82305026	78	21063											
C14orf43	91748	genome.wustl.edu	37	14	74206317	74206317	+	Nonsense_Mutation	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr14:74206317G>T	ENST00000286523.5	-	2	1177	c.395C>A	c.(394-396)tCa>tAa	p.S132*	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Nonsense_Mutation_p.S132*	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTTCCATGTTGAATGGGGTGG	0.627																																																0			14											76	80	79					14																	74206317		2203	4300	6503	73276070	SO:0001587	stop_gained	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.395C>A	14.37:g.74206317G>T	ENSP00000286523:p.Ser132*		73276070	Q6PK13|Q6PK59|Q6ZS23	Nonsense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	G	41	9.084599	0.99061	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	.	.	.	4.66	4.66	0.58398	.	0.460791	0.20077	N	0.099730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4361	12.6398	0.56702	0.0:0.166:0.834:0.0	.	.	.	.	X	132	.	ENSP00000286523:S132X	S	-	2	0	C14orf43	73276070	0.081000	0.21417	0.510000	0.27712	0.983000	0.72400	2.803000	0.47924	2.413000	0.81919	0.462000	0.41574	TCA		0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		T	74206317	G	T	74206317	4	4	386	1	0	0	0	0	0	1	0	0	1774	1294	45	3	2786	3	C14orf43	14	74206317	Nonsense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	49161803	74206317	33143223	79	21064											
TMED8	283578	genome.wustl.edu	37	14	77809609	77809609	+	Silent	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr14:77809609G>C	ENST00000216468.7	-	5	727	c.672C>G	c.(670-672)acC>acG	p.T224T		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	224	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TAGTTACAGGGGTCCAGTCAA	0.468																																																0			14											105	89	94					14																	77809609		2203	4300	6503	76879362	SO:0001819	synonymous_variant	283578			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"family with sequence similarity 15, member B", "transmembrane emp24 domain containing 8"	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.672C>G	14.37:g.77809609G>C			76879362	B3KTI6|Q3MJB0|Q9P1V9	Silent	SNP	ENST00000216468.7	37	CCDS32125.1																																																																																				0.468	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		C	77809609	G	C	77809609	2	2	386	1	0	0	0	0	0	0	0	1	16011	1219	43	3		3	TMED8	14	77809609	Silent	SNP	G	TCGA-36-2534-01A-01D-1526-09	3603292	77809609	29539931	80	21065											
ITPK1	3705	genome.wustl.edu	37	14	93408232	93408232	+	Missense_Mutation	SNP	C	C	T	rs201410742		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr14:93408232C>T	ENST00000267615.6	-	11	1092	c.919G>A	c.(919-921)Gag>Aag	p.E307K	ITPK1_ENST00000555495.1_Missense_Mutation_p.E188K|ITPK1_ENST00000556603.2_Missense_Mutation_p.E307K|ITPK1_ENST00000354313.3_Intron			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	307	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GTGAAGAACTCGCTCACGCCC	0.647													c|||	1	0.000199681	0	0	5008	,	,		17541	0		0.001	False		,,,				2504	0															0			14						C	LYS/GLU,,LYS/GLU	2,4308		0,2,2153	23	19	20		919,,919	4.6	1	14	dbSNP_133	20	0,8438		0,0,4219	no	missense,intron,missense	ITPK1	NM_001142593.1,NM_001142594.1,NM_014216.4	56,,56	0,2,6372	TT,TC,CC		0.0,0.0464,0.0157	benign,,benign	307/415,,307/415	93408232	2,12746	2155	4219	6374	92477985	SO:0001583	missense	3705			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.919G>A	14.37:g.93408232C>T	ENSP00000267615:p.Glu307Lys		92477985	Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	CCDS9907.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	21.9	4.211213	0.79240	4.64E-4	0.0	ENSG00000100605	ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	.	.	.	4.59	4.59	0.56863	ATP-grasp fold (1);	0.049617	0.85682	D	0.000000	T	0.55401	0.1918	L	0.45228	1.405	0.58432	D	0.999999	D	0.61697	0.99	P	0.45639	0.488	T	0.59284	-0.7483	9	0.42905	T	0.14	-2.7162	17.42	0.87512	0.0:1.0:0.0:0.0	.	307	Q13572	ITPK1_HUMAN	K	337;307;188;307;307	.	ENSP00000267615:E307K	E	-	1	0	ITPK1	92477985	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	5.709000	0.68384	2.113000	0.64589	0.563000	0.77884	GAG		0.647	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		T	93408232	C	T	93408232	3	4	386	1	0	0	0	0	1	0	0	0	7916	893	31	1	377	1	ITPK1	14	93408232	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	15598623	93408232	13941308	81	21066											
DLK1	8788	genome.wustl.edu	37	14	101200673	101200673	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr14:101200673G>A	ENST00000341267.4	+	5	834	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	DLK1_ENST00000331224.6_Missense_Mutation_p.A198T	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	198	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCGGTGCCCAGCCGGCTTCAT	0.657																																																0			14											37	44	42					14																	101200673		2200	4298	6498	100270426	SO:0001583	missense	8788			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.592G>A	14.37:g.101200673G>A	ENSP00000340292:p.Ala198Thr		100270426	P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889099	0.52014	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	T;T	0.66460	-0.21;-0.21	4.58	0.207	0.15214	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	1.053610	0.07440	N	0.897147	T	0.58949	0.2158	N	0.12471	0.22	0.09310	N	1	D;D	0.71674	0.998;0.96	D;P	0.68192	0.956;0.761	T	0.52983	-0.8502	10	0.13853	T	0.58	.	3.9572	0.09395	0.0905:0.4639:0.2206:0.2251	.	198;198	P80370-2;P80370	.;DLK1_HUMAN	T	198	ENSP00000340292:A198T;ENSP00000331081:A198T	ENSP00000331081:A198T	A	+	1	0	DLK1	100270426	0.000000	0.05858	0.517000	0.27799	0.977000	0.68977	-0.237000	0.08990	0.321000	0.23259	0.491000	0.48974	GCC		0.657	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			A	101200673	G	A	101200673	3	1	386	1	0	0	0	0	1	0	0	0	4564	971	34	2	610	2	DLK1	14	101200673	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	7792441	101200673	6148867	82	21067											
LIPC	3990	genome.wustl.edu	37	15	58837994	58837994	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr15:58837994T>A	ENST00000356113.6	+	7	1243	c.628T>A	c.(628-630)Tct>Act	p.S210T	LIPC_ENST00000299022.5_Missense_Mutation_p.S210T|LIPC_ENST00000433326.2_Missense_Mutation_p.S149T|LIPC_ENST00000414170.3_Missense_Mutation_p.S210T			P11150	LIPC_HUMAN	lipase, hepatic	210					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAATCGTCTTTCTCCAGATGA	0.547																																																0			15											98	93	94					15																	58837994		2192	4292	6484	56625286	SO:0001583	missense	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.628T>A	15.37:g.58837994T>A	ENSP00000348425:p.Ser210Thr		56625286	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216758	0.79352	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.44	5.44	0.79542	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	M	0.69185	2.1	0.80722	D	1	P;D	0.59357	0.939;0.985	P;D	0.66979	0.522;0.948	D	0.94882	0.8040	10	0.87932	D	0	.	15.4981	0.75673	0.0:0.0:0.0:1.0	.	149;210	E7EUK6;P11150	.;LIPC_HUMAN	T	210;210;210;149	ENSP00000348425:S210T;ENSP00000395569:S210T;ENSP00000299022:S210T;ENSP00000395002:S149T	ENSP00000299022:S210T	S	+	1	0	LIPC	56625286	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	8.020000	0.88740	2.060000	0.61445	0.460000	0.39030	TCT		0.547	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			A	58837994	T	A	58837994	3	1	386	1	0	0	0	0	1	0	0	0	8820	1783	62	5	646	5	LIPC	15	58837994	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09		58837994	43693398	83	21068											
ETFA	2108	genome.wustl.edu	37	15	76523706	76523706	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr15:76523706T>C	ENST00000557943.1	-	10	930	c.850A>G	c.(850-852)Atc>Gtc	p.I284V	ETFA_ENST00000433983.2_Missense_Mutation_p.I235V|ETFA_ENST00000560726.1_Missense_Mutation_p.I24V|ETFA_ENST00000559602.1_Missense_Mutation_p.I180V	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	284	Domain II. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						AAATGTTGGATGGCTCCAGAT	0.318																																																0			15											121	108	112					15																	76523706		2197	4294	6491	74310761	SO:0001583	missense	2108			J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"glutaric aciduria II"	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.850A>G	15.37:g.76523706T>C	ENSP00000452762:p.Ile284Val		74310761	B4DT43|Q53XN3	Missense_Mutation	SNP	ENST00000557943.1	37	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522538	0.85600	.	.	ENSG00000140374	ENST00000433983;ENST00000267950	D	0.91996	-2.95	5.92	5.92	0.95590	Electron transfer flavoprotein, alpha subunit, C-terminal (1);Electron transfer flavoprotein, alpha subunit, C-terminal, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92456	0.7605	L	0.55213	1.73	0.80722	D	1	D;P;P	0.54397	0.966;0.702;0.702	P;P;P	0.51079	0.658;0.658;0.658	D	0.92851	0.6297	10	0.62326	D	0.03	-24.3605	14.1045	0.65080	0.0:0.0:0.0:1.0	.	235;284;284	B4DT43;Q53XN3;P13804	.;.;ETFA_HUMAN	V	235;284	ENSP00000399273:I235V	ENSP00000267950:I284V	I	-	1	0	ETFA	74310761	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.531000	0.73820	2.267000	0.75376	0.528000	0.53228	ATC		0.318	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126		C	76523706	T	C	76523706	3	2	386	1	0	0	0	0	1	0	0	0	5269	1464	51	4	163	4	ETFA	15	76523706	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	17685712	76523706	26007686	84	21069											
C16orf72	29035	genome.wustl.edu	37	16	9186006	9186006	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr16:9186006C>G	ENST00000327827.7	+	1	502	c.105C>G	c.(103-105)gaC>gaG	p.D35E		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	35										endometrium(4)|large_intestine(2)|lung(2)	8						CCGAACAGGACGAGCAGCTGC	0.706																																																0			16											9	14	13					16																	9186006		2077	4076	6153	9093507	SO:0001583	missense	29035			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.105C>G	16.37:g.9186006C>G	ENSP00000331720:p.Asp35Glu		9093507		Missense_Mutation	SNP	ENST00000327827.7	37	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	C	2.021	-0.424793	0.04734	.	.	ENSG00000182831	ENST00000327827	T	0.40225	1.04	3.19	0.595	0.17490	.	0.406006	0.26983	N	0.021512	T	0.05731	0.0150	N	0.00092	-2.175	0.29882	N	0.825917	B	0.02656	0.0	B	0.01281	0.0	T	0.35624	-0.9781	10	0.02654	T	1	-0.019	1.896	0.03257	0.1506:0.3418:0.3656:0.142	.	35	Q14CZ0	CP072_HUMAN	E	35	ENSP00000331720:D35E	ENSP00000331720:D35E	D	+	3	2	C16orf72	9093507	1.000000	0.71417	0.997000	0.53966	0.600000	0.36913	0.824000	0.27379	0.423000	0.26033	0.467000	0.42956	GAC		0.706	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		G	9186006	C	G	9186006	3	3	386	1	0	0	0	0	1	0	0	0	1831	535	19	3	107	3	C16orf72	16	9186006	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09		9186006	81168747	85	21070											
ACSM3	6296	genome.wustl.edu	37	16	20803396	20803396	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr16:20803396A>G	ENST00000289416.5	+	11	1874	c.1399A>G	c.(1399-1401)Aaa>Gaa	p.K467E	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.K459E|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	467					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATATATGGATAAAGATGGGTA	0.363																																																0			16											204	197	199					16																	20803396		2201	4300	6501	20710897	SO:0001583	missense	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1399A>G	16.37:g.20803396A>G	ENSP00000289416:p.Lys467Glu		20710897	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	1.774	-0.483661	0.04383	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.40476	1.03;1.03	5.59	2.49	0.30216	AMP-dependent synthetase/ligase (1);	0.315937	0.33364	N	0.004995	T	0.09992	0.0245	N	0.00301	-1.68	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.37033	-0.9723	10	0.02654	T	1	-22.1988	10.5073	0.44841	0.2194:0.0:0.7806:0.0	.	459;467	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	E	467;459	ENSP00000289416:K467E;ENSP00000395297:K459E	ENSP00000289416:K467E	K	+	1	0	ACSM3	20710897	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	2.190000	0.42630	0.272000	0.22027	-1.179000	0.01719	AAA		0.363	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		G	20803396	A	G	20803396	3	3	386	1	0	0	0	0	1	0	0	0	185	363	13	4	1530	4	ACSM3	16	20803396	Missense_Mutation	SNP	A	TCGA-36-2534-01A-01D-1526-09	11617390	20803396	69551357	86	21071											
GGA2	23062	genome.wustl.edu	37	16	23499997	23499997	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr16:23499997T>A	ENST00000309859.4	-	6	591	c.509A>T	c.(508-510)gAt>gTt	p.D170V	GGA2_ENST00000567468.1_Missense_Mutation_p.D170V	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	170					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TAAGATTTTATCCACTGGTAG	0.408																																																0			16											164	161	162					16																	23499997		2197	4300	6497	23407498	SO:0001583	missense	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.509A>T	16.37:g.23499997T>A	ENSP00000311962:p.Asp170Val		23407498	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.017719	0.54576	.	.	ENSG00000103365	ENST00000309859	T	0.18502	2.21	5.11	5.11	0.69529	.	0.370566	0.29638	N	0.011584	T	0.13372	0.0324	L	0.29908	0.895	0.51767	D	0.999934	B	0.30914	0.3	B	0.27715	0.082	T	0.06991	-1.0796	10	0.40728	T	0.16	-23.4361	13.1649	0.59565	0.0:0.0:0.0:1.0	.	170	Q9UJY4	GGA2_HUMAN	V	170	ENSP00000311962:D170V	ENSP00000311962:D170V	D	-	2	0	GGA2	23407498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.217000	0.77982	2.054000	0.61138	0.523000	0.50628	GAT		0.408	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			A	23499997	T	A	23499997	3	1	386	1	0	0	0	0	1	0	0	0	6353	1435	50	5	1380	5	GGA2	16	23499997	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	2696601	23499997	66854756	87	21072											
CACNG3	10368	genome.wustl.edu	37	16	24372921	24372921	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr16:24372921T>A	ENST00000005284.3	+	4	1887	c.685T>A	c.(685-687)Tat>Aat	p.Y229N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	229					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACCCTACAGGTATCGATTCCG	0.537																																																0			16											86	84	85					16																	24372921		2197	4300	6497	24280422	SO:0001583	missense	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.685T>A	16.37:g.24372921T>A	ENSP00000005284:p.Tyr229Asn		24280422		Missense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	T	9.829	1.187953	0.21954	.	.	ENSG00000006116	ENST00000005284	T	0.61274	0.12	4.96	4.96	0.65561	.	0.062950	0.64402	D	0.000004	T	0.57051	0.2027	M	0.73217	2.22	0.53005	D	0.999965	B	0.21225	0.053	B	0.25291	0.059	T	0.54476	-0.8288	10	0.21540	T	0.41	-13.0359	14.3332	0.66572	0.0:0.0:0.0:1.0	.	229	O60359	CCG3_HUMAN	N	229	ENSP00000005284:Y229N	ENSP00000005284:Y229N	Y	+	1	0	CACNG3	24280422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.783000	0.62403	1.846000	0.53633	0.533000	0.62120	TAT		0.537	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		A	24372921	T	A	24372921	3	1	386	1	0	0	0	0	1	0	0	0	2558	1638	57	5	699	5	CACNG3	16	24372921	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	872924	24372921	65981832	88	21073											
ARHGAP17	55114	genome.wustl.edu	37	16	24950756	24950756	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr16:24950756G>T	ENST00000289968.6	-	17	1722	c.1653C>A	c.(1651-1653)agC>agA	p.S551R	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	551	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCCCAGAGCTGCTTTCAGCCC	0.677																																																0			16											17	23	21					16																	24950756		2194	4296	6490	24858257	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1653C>A	16.37:g.24950756G>T	ENSP00000289968:p.Ser551Arg		24858257	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669923	0.47677	.	.	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.20881	2.04	5.32	5.32	0.75619	.	0.120593	0.37906	N	0.001892	T	0.24661	0.0598	L	0.44542	1.39	0.80722	D	1	P;P	0.48016	0.454;0.904	B;P	0.48227	0.115;0.571	T	0.00770	-1.1573	10	0.19590	T	0.45	.	14.3713	0.66840	0.0:0.0:1.0:0.0	.	551;84	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	R	551	ENSP00000289968:S551R	ENSP00000289968:S551R	S	-	3	2	ARHGAP17	24858257	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.057000	0.30492	2.767000	0.95098	0.655000	0.94253	AGC		0.677	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		T	24950756	G	T	24950756	3	4	386	1	0	0	0	0	1	0	0	0	867	1310	46	3	1008	3	ARHGAP17	16	24950756	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	577835	24950756	65403997	89	21074											
SETD1A	9739	genome.wustl.edu	37	16	30990567	30990567	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr16:30990567C>G	ENST00000262519.8	+	14	4146	c.3460C>G	c.(3460-3462)Ccc>Gcc	p.P1154A		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1154	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCCTCTTCTCCCATCCCCCT	0.711																																																0			16											12	14	13					16																	30990567		2156	4222	6378	30898068	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3460C>G	16.37:g.30990567C>G	ENSP00000262519:p.Pro1154Ala		30898068	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	9.813	1.183602	0.21870	.	.	ENSG00000099381	ENST00000262519	D	0.94576	-3.46	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.61703	1.905	0.41375	D	0.98751	D	0.58620	0.983	P	0.51016	0.656	D	0.93764	0.7069	10	0.56958	D	0.05	.	9.4776	0.38880	0.0:0.9032:0.0:0.0968	.	1154	O15047	SET1A_HUMAN	A	1154	ENSP00000262519:P1154A	ENSP00000262519:P1154A	P	+	1	0	SETD1A	30898068	1.000000	0.71417	0.991000	0.47740	0.349000	0.29174	5.028000	0.64115	2.328000	0.79073	0.557000	0.71058	CCC		0.711	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		G	30990567	C	G	30990567	3	3	386	1	0	0	0	0	1	0	0	0	14133	855	30	3	3510	3	SETD1A	16	30990567	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	6039811	30990567	59364186	90	21075											
NAE1	8883	genome.wustl.edu	37	16	66839822	66839822	+	Missense_Mutation	SNP	G	G	C	rs11556608		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr16:66839822G>C	ENST00000290810.3	-	18	1535	c.1438C>G	c.(1438-1440)Cac>Gac	p.H480D	NAE1_ENST00000379463.2_Missense_Mutation_p.H474D|NAE1_ENST00000394074.2_Missense_Mutation_p.H391D|NAE1_ENST00000359087.4_Missense_Mutation_p.H483D			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	480					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CACAATTCGTGGACATAATCA	0.373																																																0			16											100	92	95					16																	66839822		2200	4300	6500	65397323	SO:0001583	missense	8883			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"Ubiquitin-like modifier activating enzymes"	621	protein-coding gene	gene with protein product		603385	"amyloid beta precursor protein binding protein 1, 59kDa"	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1438C>G	16.37:g.66839822G>C	ENSP00000290810:p.His480Asp		65397323	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191481	0.38707	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.78	4.83	0.62350	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.044839	0.85682	D	0.000000	T	0.48352	0.1495	L	0.58101	1.795	0.80722	D	1	B;P;P	0.52463	0.001;0.953;0.947	B;B;P	0.51701	0.005;0.398;0.677	T	0.41324	-0.9515	10	0.13470	T	0.59	-0.1447	14.6976	0.69134	0.0692:0.0:0.9308:0.0	.	483;480;474	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	D	483;480;474;391	ENSP00000351990:H483D;ENSP00000290810:H480D;ENSP00000368776:H474D;ENSP00000377637:H391D	ENSP00000290810:H480D	H	-	1	0	NAE1	65397323	1.000000	0.71417	0.992000	0.48379	0.866000	0.49608	9.074000	0.93998	1.460000	0.47911	0.643000	0.83706	CAC		0.373	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		C	66839822	G	C	66839822	3	2	386	1	0	0	0	0	1	0	0	0	10139	1348	47	3	178	3	NAE1	16	66839822	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	35849255	66839822	23514931	91	21076											
NFAT5	10725	genome.wustl.edu	37	16	69725709	69725709	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr16:69725709G>A	ENST00000354436.2	+	12	2245	c.1927G>A	c.(1927-1929)Gga>Aga	p.G643R	NFAT5_ENST00000393742.2_Missense_Mutation_p.G567R|NFAT5_ENST00000349945.1_Missense_Mutation_p.G567R|NFAT5_ENST00000566899.1_Missense_Mutation_p.G567R|NFAT5_ENST00000432919.1_Missense_Mutation_p.G661R|NFAT5_ENST00000567239.1_Missense_Mutation_p.G660R	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	643					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAACATAGCAGGAAATGGCTC	0.368																																																0			16											105	107	106					16																	69725709		2198	4300	6498	68283210	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1927G>A	16.37:g.69725709G>A	ENSP00000346420:p.Gly643Arg		68283210	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224017	0.79576	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.49720	0.78;0.78;0.77;0.78	6.08	6.08	0.98989	.	0.316333	0.35013	N	0.003503	T	0.62036	0.2395	L	0.54323	1.7	0.45762	D	0.998655	D;D;D	0.89917	0.988;0.988;1.0	P;P;D	0.85130	0.839;0.839;0.997	T	0.56914	-0.7900	10	0.34782	T	0.22	-2.1864	12.456	0.55704	0.0821:0.0:0.9179:0.0	.	660;643;661	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	R	661;660;567;643;567	ENSP00000396538:G661R;ENSP00000338806:G567R;ENSP00000346420:G643R;ENSP00000377343:G567R	ENSP00000338806:G567R	G	+	1	0	NFAT5	68283210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.828000	0.48120	2.894000	0.99253	0.655000	0.94253	GGA		0.368	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		A	69725709	G	A	69725709	3	1	386	1	0	0	0	0	1	0	0	0	10360	1001	35	2	2031	2	NFAT5	16	69725709	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	2885887	69725709	20629044	92	21077											
ZC3H18	124245	genome.wustl.edu	37	16	88697595	88697595	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr16:88697595C>G	ENST00000301011.5	+	18	2950	c.2750C>G	c.(2749-2751)aCc>aGc	p.T917S	ZC3H18_ENST00000452588.2_Missense_Mutation_p.T941S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	917						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCGCCAGCACCAAATCAGGG	0.652																																					Ovarian(121;375 2276 20373 38669)											0			16											41	41	41					16																	88697595		2197	4300	6497	87225096	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2750C>G	16.37:g.88697595C>G	ENSP00000301011:p.Thr917Ser		87225096	Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.35|14.35	2.509585|2.509585	0.44660|0.44660	.|.	.|.	ENSG00000158545|ENSG00000158545	ENST00000289509|ENST00000301011;ENST00000452588	.|T;T	.|0.29397	.|1.6;1.57	5.61|5.61	2.45|2.45	0.29901|0.29901	.|.	.|0.731667	.|0.13799	.|N	.|0.361939	T|T	0.29223|0.29223	0.0727|0.0727	L|L	0.36672|0.36672	1.1|1.1	0.23107|0.23107	N|N	0.998282|0.998282	.|B;B	.|0.28470	.|0.213;0.213	.|B;B	.|0.32090	.|0.14;0.097	T|T	0.17379|0.17379	-1.0371|-1.0371	6|10	0.87932|0.39692	D|T	0|0.17	-1.5031|-1.5031	16.6258|16.6258	0.84970|0.84970	0.0:0.6124:0.3876:0.0|0.0:0.6124:0.3876:0.0	.|.	.|941;917	.|E7ERS3;Q86VM9	.|.;ZCH18_HUMAN	A|S	743|917;941	.|ENSP00000301011:T917S;ENSP00000416951:T941S	ENSP00000289509:P743A|ENSP00000301011:T917S	P|T	+|+	1|2	0|0	ZC3H18|ZC3H18	87225096|87225096	0.996000|0.996000	0.38824|0.38824	0.523000|0.523000	0.27875|0.27875	0.966000|0.966000	0.64601|0.64601	3.576000|3.576000	0.53878|0.53878	0.266000|0.266000	0.21894|0.21894	-0.305000|-0.305000	0.09177|0.09177	CCA|ACC		0.652	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		G	88697595	C	G	88697595	3	3	386	1	0	0	0	0	1	0	0	0	17568	507	18	3	2816	3	ZC3H18	16	88697595	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	18971886	88697595	1657158	93	21078											
ITGAE	3682	genome.wustl.edu	37	17	3662784	3662784	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:3662784G>T	ENST00000263087.4	-	8	876	c.778C>A	c.(778-780)Cag>Aag	p.Q260K		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	260	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATCACATCCTGGCTGTCCCGA	0.572																																					NSCLC(182;635 2928 8995 38788)											0			17											147	117	127					17																	3662784		2203	4300	6503	3609533	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.778C>A	17.37:g.3662784G>T	ENSP00000263087:p.Gln260Lys		3609533	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	8.279	0.815050	0.16607	.	.	ENSG00000083457	ENST00000263087	D	0.82893	-1.66	5.47	1.72	0.24424	von Willebrand factor, type A (3);	.	.	.	.	T	0.68091	0.2963	N	0.20685	0.6	0.23435	N	0.997688	P	0.34462	0.454	B	0.38156	0.266	T	0.56135	-0.8029	9	0.05436	T	0.98	.	9.1348	0.36868	0.0:0.2535:0.5641:0.1824	.	260	P38570	ITAE_HUMAN	K	260	ENSP00000263087:Q260K	ENSP00000263087:Q260K	Q	-	1	0	ITGAE	3609533	0.929000	0.31497	0.998000	0.56505	0.970000	0.65996	0.513000	0.22770	0.715000	0.32103	0.609000	0.83330	CAG		0.572	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		T	3662784	G	T	3662784	3	4	386	1	0	0	0	0	1	0	0	0	7885	1357	47	3	2857	3	ITGAE	17	3662784	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09		3662784	77532426	94	21079											
ZMYND15	84225	genome.wustl.edu	37	17	4645731	4645731	+	Silent	SNP	A	A	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:4645731A>T	ENST00000433935.1	+	5	1146	c.1089A>T	c.(1087-1089)gcA>gcT	p.A363A	ZMYND15_ENST00000592813.1_Silent_p.A363A|CXCL16_ENST00000574412.1_5'Flank|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000573751.2_Silent_p.A363A|ZMYND15_ENST00000269289.6_Silent_p.A363A	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	363					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CAAGGCTTGCAGCCTTCATGG	0.562																																																0			17											103	97	99					17																	4645731		2203	4300	6503	4592480	SO:0001819	synonymous_variant	84225			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1089A>T	17.37:g.4645731A>T			4592480	B4DXY5|I3L296	Silent	SNP	ENST00000433935.1	37	CCDS45584.1																																																																																				0.562	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		T	4645731	A	T	4645731	2	4	386	1	0	0	0	0	0	0	0	1	17708	175	7	5		5	ZMYND15	17	4645731	Silent	SNP	A	TCGA-36-2534-01A-01D-1526-09	982947	4645731	76549479	95	21080											
TP53	7157	genome.wustl.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:7576855G>A	ENST00000269305.4	-	9	1180	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	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	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)	CTTAGTACCTGAAGGGTGAAA	0.448		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"	34	Substitution - Nonsense(23)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)	lung(6)|large_intestine(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|skin(2)|ovary(2)|stomach(1)|breast(1)|oesophagus(1)	17											115	108	110					17																	7576855		2203	4300	6503	7517580	SO:0001587	stop_gained	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.991C>T	17.37:g.7576855G>A	ENSP00000269305:p.Gln331*		7517580	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117678	0.77323	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.95	2.88	0.33553	.	0.253251	0.40469	N	0.001098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-17.7352	9.751	0.40475	0.0:0.0:0.4869:0.5131	.	.	.	.	X	331;331;331;331;331;320;199	.	ENSP00000269305:Q331X	Q	-	1	0	TP53	7517580	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.858000	0.39408	0.557000	0.29117	-0.314000	0.08810	CAG		0.448	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7576855	G	A	7576855	4	1	386	1	0	0	0	0	0	1	0	0	16381	1299	45	2	291	2	TP53	17	7576855	Nonsense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	2931124	7576855	73618355	96	21081											
ALOX15B	247	genome.wustl.edu	37	17	7951805	7951805	+	Silent	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:7951805C>T	ENST00000380183.4	+	14	2092	c.1953C>T	c.(1951-1953)atC>atT	p.I651I	ALOX15B_ENST00000380173.2_Silent_p.I622I|ALOX15B_ENST00000572022.1_Silent_p.I639I|ALOX15B_ENST00000573359.1_Silent_p.I577I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	651	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGAGGGGCATCCAGGAGCGGA	0.647																																																0			17											80	84	83					17																	7951805		2203	4300	6503	7892530	SO:0001819	synonymous_variant	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1953C>T	17.37:g.7951805C>T			7892530	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	CCDS11128.1																																																																																				0.647	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			T	7951805	C	T	7951805	2	4	386	1	0	0	0	0	0	0	0	1	539	845	30	2		2	ALOX15B	17	7951805	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	374950	7951805	73243405	97	21082											
MYH1	4619	genome.wustl.edu	37	17	10416193	10416193	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:10416193C>A	ENST00000226207.5	-	10	989	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	299	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAATTAGATCTGGCTTCTTG	0.363																																																0			17											85	85	85					17																	10416193		2203	4300	6503	10356918	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.895G>T	17.37:g.10416193C>A	ENSP00000226207:p.Asp299Tyr		10356918	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119521	0.77323	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87491	-2.26	5.87	5.87	0.94306	Myosin head, motor domain (2);	0.166983	0.27906	U	0.017368	D	0.90459	0.7012	M	0.64170	1.965	0.58432	D	0.999999	B	0.29432	0.244	B	0.42522	0.39	D	0.88337	0.2972	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	299	P12882	MYH1_HUMAN	Y	299	ENSP00000226207:D299Y	ENSP00000226207:D299Y	D	-	1	0	MYH1	10356918	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.787000	0.85759	2.941000	0.99782	0.655000	0.94253	GAT		0.363	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10416193	C	A	10416193	3	1	386	1	0	0	0	0	1	0	0	0	10029	913	32	3	5048	3	MYH1	17	10416193	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	2464388	10416193	70779017	98	21083											
TAOK1	57551	genome.wustl.edu	37	17	27849422	27849422	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:27849422T>C	ENST00000261716.3	+	17	2552	c.2033T>C	c.(2032-2034)aTc>aCc	p.I678T	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	678					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGTGAGTTGATCAGATTACAG	0.448																																																0			17											115	104	107					17																	27849422		2203	4300	6503	24873548	SO:0001583	missense	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2033T>C	17.37:g.27849422T>C	ENSP00000261716:p.Ile678Thr		24873548	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844419	0.51164	.	.	ENSG00000160551	ENST00000261716	T	0.55760	0.5	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.047303	0.85682	D	0.000000	T	0.47764	0.1463	L	0.46670	1.46	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35101	-0.9802	10	0.27785	T	0.31	.	16.2561	0.82517	0.0:0.0:0.0:1.0	.	678	Q7L7X3	TAOK1_HUMAN	T	678	ENSP00000261716:I678T	ENSP00000261716:I678T	I	+	2	0	TAOK1	24873548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.035000	0.88872	2.243000	0.73865	0.472000	0.43445	ATC		0.448	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		C	27849422	T	C	27849422	3	2	386	1	0	0	0	0	1	0	0	0	15547	1435	50	4	2095	4	TAOK1	17	27849422	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	17433229	27849422	53345788	99	21084											
NF1	4763	genome.wustl.edu	37	17	29670026	29670026	+	Splice_Site	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:29670026G>T	ENST00000358273.4	+	48	7445		c.e48-1		NF1_ENST00000444181.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000417592.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCTTTAATAGAGTCCAGAGG	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17											86	89	88					17																	29670026		2203	4300	6503	26694152	SO:0001630	splice_region_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7063-1G>T	17.37:g.29670026G>T			26694152	O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425009	0.83667	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.476	0.94989	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26694152	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.022000	0.93678	2.616000	0.88540	0.563000	0.77884	.		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	T	29670026	G	T	29670026	5	4	386	1	0	0	0	0	0	0	1	0	10356	956	33	3	7313	3	NF1	17	29670026	Splice_Site	SNP	G	TCGA-36-2534-01A-01D-1526-09	1820604	29670026	51525184	100	21085											
SLFN13	146857	genome.wustl.edu	37	17	33768204	33768204	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:33768204G>C	ENST00000285013.6	-	6	2379	c.2104C>G	c.(2104-2106)Ctg>Gtg	p.L702V	SLFN13_ENST00000360502.2_Missense_Mutation_p.L384V|SLFN13_ENST00000533791.1_Missense_Mutation_p.L702V|SLFN13_ENST00000534689.1_Missense_Mutation_p.L384V|SLFN13_ENST00000542635.1_Missense_Mutation_p.L702V|SLFN13_ENST00000526861.1_Missense_Mutation_p.L702V	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	702						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGTAGTCCAGAAAGATCCAG	0.488																																																0			17											128	135	133					17																	33768204		2203	4300	6503	30792317	SO:0001583	missense	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2104C>G	17.37:g.33768204G>C	ENSP00000285013:p.Leu702Val		30792317	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	15.27	2.783017	0.49891	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	3.41	2.32	0.28847	Domain of unknown function DUF2075 (1);	0.000000	0.37669	N	0.001983	D	0.87958	0.6309	M	0.85542	2.76	0.27088	N	0.962916	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.987	T	0.77749	-0.2471	10	0.72032	D	0.01	.	7.2588	0.26191	0.0:0.0:0.7363:0.2637	.	384;702	Q68D06-2;Q68D06	.;SLN13_HUMAN	V	702;384;702;702;384	ENSP00000285013:L702V;ENSP00000353692:L384V;ENSP00000434439:L702V;ENSP00000444016:L702V;ENSP00000435442:L384V	ENSP00000285013:L702V	L	-	1	2	SLFN13	30792317	0.905000	0.30787	1.000000	0.80357	0.851000	0.48451	0.117000	0.15583	1.895000	0.54865	0.407000	0.27541	CTG		0.488	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		C	33768204	G	C	33768204	3	2	386	1	0	0	0	0	1	0	0	0	14739	933	33	3	593	3	SLFN13	17	33768204	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	4098178	33768204	47427006	101	21086											
BRCA1	672	genome.wustl.edu	37	17	41203135	41203135	+	Splice_Site	SNP	C	C	A	rs80358099|rs273901760		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:41203135C>A	ENST00000357654.3	-	20	5396		c.e20-1		BRCA1_ENST00000586385.1_Splice_Site|BRCA1_ENST00000351666.3_Splice_Site|BRCA1_ENST00000468300.1_Splice_Site|BRCA1_ENST00000493795.1_Splice_Site|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Splice_Site|BRCA1_ENST00000352993.3_Splice_Site|BRCA1_ENST00000471181.2_Splice_Site|BRCA1_ENST00000491747.2_Splice_Site|BRCA1_ENST00000346315.3_Splice_Site|BRCA1_ENST00000354071.3_Splice_Site|BRCA1_ENST00000591534.1_Splice_Site	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset						androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCCTGAAGATCTGGAAGAAGA	0.453			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Unknown(1)	ovary(1)	17	GRCh37	CS021726|CS971624|CS973718	BRCA1	S	rs80358099						63	62	63					17																	41203135		2203	4300	6503	38456661	SO:0001630	splice_region_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5278-1G>T	17.37:g.41203135C>A			38456661	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Splice_Site	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830931	0.71258	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1279	0.65233	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRCA1	38456661	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.743000	0.47442	2.793000	0.96121	0.561000	0.74099	.		0.453	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	Intron	A	41203135	C	A	41203135	5	1	386	1	0	0	0	0	0	0	1	0	1498	927	32	3	330	3	BRCA1	17	41203135	Splice_Site	SNP	C	TCGA-36-2534-01A-01D-1526-09	7434931	41203135	39992075	102	21087											
TTLL6	284076	genome.wustl.edu	37	17	46863617	46863617	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr17:46863617G>A	ENST00000393382.3	-	12	1811	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L	TTLL6_ENST00000433608.2_Missense_Mutation_p.S250L	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTCGCCTGCCGATTCCCCCTG	0.522																																																0			17											343	335	338					17																	46863617		2203	4300	6503	44218616	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1670C>T	17.37:g.46863617G>A	ENSP00000377043:p.Ser557Leu		44218616		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824470	0.50739	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	4.65	0.58169	.	125.583000	0.00166	N	0.000000	T	0.38772	0.1053	M	0.61703	1.905	0.25610	N	0.986505	B;B;P	0.51653	0.003;0.008;0.947	B;B;B	0.38225	0.001;0.008;0.268	T	0.39333	-0.9619	9	0.38643	T	0.18	.	9.7826	0.40658	0.0921:0.0:0.9079:0.0	.	509;310;250	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	L	557;250;235;509	.	ENSP00000302547:S250L	S	-	2	0	TTLL6	44218616	0.839000	0.29477	0.644000	0.29465	0.024000	0.10985	2.372000	0.44257	2.802000	0.96397	0.561000	0.74099	TCG		0.522	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		A	46863617	G	A	46863617	3	1	386	1	0	0	0	0	1	0	0	0	16731	1059	37	1	1021	1	TTLL6	17	46863617	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	5660482	46863617	34331593	103	21088											
AZU1	566	genome.wustl.edu	37	19	830900	830900	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr19:830900G>C	ENST00000233997.2	+	4	574	c.553G>C	c.(553-555)Gtg>Ctg	p.V185L		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	185	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAACAACGTGTGCACCGG	0.667																																																0			19											36	35	35					19																	830900		2203	4299	6502	781900	SO:0001583	missense	566			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.553G>C	19.37:g.830900G>C	ENSP00000233997:p.Val185Leu		781900	P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	G	7.857	0.725235	0.15439	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.87571	-2.27	1.51	-3.03	0.05429	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.63295	0.2499	N	0.01874	-0.695	0.09310	N	1	P	0.40180	0.705	B	0.37780	0.258	T	0.60525	-0.7246	9	0.10902	T	0.67	.	9.1169	0.36764	0.0:0.6274:0.3726:0.0	.	185	P20160	CAP7_HUMAN	L	199;185	ENSP00000233997:V185L	ENSP00000233997:V185L	V	+	1	0	AZU1	781900	0.037000	0.19845	0.000000	0.03702	0.007000	0.05969	-0.202000	0.09451	-0.815000	0.04346	-0.270000	0.10280	GTG		0.667	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		C	830900	G	C	830900	3	2	386	1	0	0	0	0	1	0	0	0	1243	1145	40	3	567	3	AZU1	19	830900	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09		830900	58298083	104	21089											
OR1M1	125963	genome.wustl.edu	37	19	9204363	9204363	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr19:9204363T>C	ENST00000429566.3	+	1	509	c.443T>C	c.(442-444)cTc>cCc	p.L148P		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTCGGCGCCCTCTGGGCGTTT	0.587																																																0			19											110	90	97					19																	9204363		2203	4300	6503	9065363	SO:0001583	missense	125963				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.443T>C	19.37:g.9204363T>C	ENSP00000401966:p.Leu148Pro		9065363	B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	5.642	0.303189	0.10678	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.38240	1.15	3.9	0.555	0.17247	GPCR, rhodopsin-like superfamily (1);	0.627745	0.15102	N	0.280470	T	0.13543	0.0328	N	0.02973	-0.45	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16958	-1.0385	10	0.51188	T	0.08	.	4.6256	0.12476	0.1438:0.5034:0.0:0.3528	.	148	Q8NGA1	OR1M1_HUMAN	P	151;148	ENSP00000401966:L148P	ENSP00000303195:L151P	L	+	2	0	OR1M1	9065363	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.257000	0.01180	-0.117000	0.11872	-0.779000	0.03376	CTC		0.587	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			C	9204363	T	C	9204363	3	2	386	1	0	0	0	0	1	0	0	0	10968	1551	54	4	445	4	OR1M1	19	9204363	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	8373463	9204363	49924620	105	21090											
ZNF823	55552	genome.wustl.edu	37	19	11833723	11833723	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr19:11833723A>G	ENST00000341191.6	-	4	779	c.626T>C	c.(625-627)tTg>tCg	p.L209S	ZNF823_ENST00000545749.1_Missense_Mutation_p.L27S	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TCTTTCGTGCAAATGAAATAA	0.423										HNSCC(68;0.2)																																						0			19											98	104	102					19																	11833723		2199	4299	6498	11694723	SO:0001583	missense	55552			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.626T>C	19.37:g.11833723A>G	ENSP00000340683:p.Leu209Ser		11694723	A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	a	5.890	0.348395	0.11126	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.07021	3.23;3.23;3.23	0.632	-1.25	0.09405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.05383	-0.06	0.09310	N	1	P	0.40731	0.728	P	0.46144	0.505	T	0.21109	-1.0255	9	0.09338	T	0.73	.	1.3743	0.02217	0.4031:0.0:0.2643:0.3326	.	209	P16415	ZN823_HUMAN	S	27;209;165	ENSP00000440162:L27S;ENSP00000340683:L209S;ENSP00000410654:L165S	ENSP00000340683:L209S	L	-	2	0	ZNF823	11694723	0.000000	0.05858	0.012000	0.15200	0.780000	0.44128	-6.937000	0.00049	-0.457000	0.07033	0.248000	0.18094	TTG		0.423	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		G	11833723	A	G	11833723	3	3	386	1	0	0	0	0	1	0	0	0	18179	131	5	4	1210	4	ZNF823	19	11833723	Missense_Mutation	SNP	A	TCGA-36-2534-01A-01D-1526-09	2629360	11833723	47295260	106	21091											
OR10H4	126541	genome.wustl.edu	37	19	16060236	16060236	+	Missense_Mutation	SNP	G	G	T	rs144850333	byFrequency	TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr19:16060236G>T	ENST00000322107.1	+	1	419	c.419G>T	c.(418-420)cGt>cTt	p.R140L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGAGCCCCCGTGACTGTGCC	0.532																																																0			19											190	162	172					19																	16060236		2203	4300	6503	15921236	SO:0001583	missense	126541			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.419G>T	19.37:g.16060236G>T	ENSP00000318834:p.Arg140Leu		15921236	Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	7.532	0.658893	0.14645	.	.	ENSG00000176231	ENST00000322107	T	0.41758	0.99	1.53	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	1.255120	0.05976	U	0.643223	T	0.40862	0.1134	M	0.75777	2.31	0.09310	N	1	B	0.17465	0.022	B	0.20767	0.031	T	0.45804	-0.9236	10	0.54805	T	0.06	.	4.2623	0.10747	0.1814:0.2355:0.5831:0.0	.	140	Q8NGA5	O10H4_HUMAN	L	140	ENSP00000318834:R140L	ENSP00000318834:R140L	R	+	2	0	OR10H4	15921236	0.000000	0.05858	0.011000	0.14972	0.085000	0.17905	-1.620000	0.02046	0.004000	0.14682	-0.370000	0.07254	CGT		0.532	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			T	16060236	G	T	16060236	3	4	386	1	0	0	0	0	1	0	0	0	10908	1145	40	3	421	3	OR10H4	19	16060236	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	4226513	16060236	43068747	107	21092											
HAPLN4	404037	genome.wustl.edu	37	19	19371670	19371670	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr19:19371670T>A	ENST00000291481.7	-	3	499	c.436A>T	c.(436-438)Acc>Tcc	p.T146S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	146	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	AGCTCATTGGTGACTTCGCAC	0.637																																																0			19											91	78	82					19																	19371670		2203	4300	6503	19232670	SO:0001583	missense	404037			AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.436A>T	19.37:g.19371670T>A	ENSP00000291481:p.Thr146Ser		19232670	A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273781	0.80580	.	.	ENSG00000187664	ENST00000291481	T	0.26957	1.7	4.66	4.66	0.58398	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	N	0.25380	0.74	0.42377	D	0.992475	B	0.32968	0.392	B	0.42062	0.374	T	0.11717	-1.0576	10	0.56958	D	0.05	-40.0531	12.0713	0.53618	0.0:0.0:0.0:1.0	.	146	Q86UW8	HPLN4_HUMAN	S	146	ENSP00000291481:T146S	ENSP00000291481:T146S	T	-	1	0	HAPLN4	19232670	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.430000	0.80321	1.960000	0.56953	0.459000	0.35465	ACC		0.637	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		A	19371670	T	A	19371670	3	1	386	1	0	0	0	0	1	0	0	0	6957	1696	59	5	784	5	HAPLN4	19	19371670	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	3311434	19371670	39757313	108	21093											
MEIS3	56917	genome.wustl.edu	37	19	47912361	47912361	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr19:47912361G>C	ENST00000558555.1	-	8	1040	c.853C>G	c.(853-855)Ctc>Gtc	p.L285V	MEIS3_ENST00000559524.1_Missense_Mutation_p.L285V|MEIS3_ENST00000561096.1_Missense_Mutation_p.L373V|MEIS3_ENST00000441740.2_Missense_Mutation_p.L268V|MEIS3_ENST00000331559.5_Missense_Mutation_p.L268V|MEIS3_ENST00000561293.1_Missense_Mutation_p.L285V|MEIS3_ENST00000560253.1_5'UTR			Q99687	MEIS3_HUMAN	Meis homeobox 3	285					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCACCGAGAGGTGCTGGAAC	0.592																																																0			19											108	93	98					19																	47912361		2203	4300	6503	52604173	SO:0001583	missense	56917			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.853C>G	19.37:g.47912361G>C	ENSP00000454073:p.Leu285Val		52604173	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37		.	.	.	.	.	.	.	.	.	.	G	23.4	4.406316	0.83230	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	D	0.94576	-3.46	3.86	3.86	0.44501	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000007	D	0.95648	0.8585	L	0.48642	1.525	0.80722	D	1	D;D;P;D;D	0.89917	0.999;1.0;0.822;0.998;0.997	D;D;P;D;D	0.91635	0.998;0.999;0.75;0.99;0.997	D	0.95704	0.8752	10	0.72032	D	0.01	-0.0655	14.1014	0.65059	0.0:0.0:1.0:0.0	.	177;285;268;285;160	Q8TCW1;Q99687;Q99687-3;Q99687-2;Q59FK5	.;MEIS3_HUMAN;.;.;.	V	285;268	ENSP00000388667:L268V	ENSP00000333552:L285V	L	-	1	0	MEIS3	52604173	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.051000	0.93849	2.432000	0.82394	0.655000	0.94253	CTC		0.592	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		C	47912361	G	C	47912361	3	2	386	1	0	0	0	0	1	0	0	0	9469	1000	35	3	432	3	MEIS3	19	47912361	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	28540691	47912361	11216622	109	21094											
ZNF766	90321	genome.wustl.edu	37	19	52793720	52793720	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr19:52793720G>T	ENST00000439461.1	+	4	719	c.676G>T	c.(676-678)Gac>Tac	p.D226Y	ZNF766_ENST00000593612.1_Missense_Mutation_p.D241Y|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Missense_Mutation_p.D241Y	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AACCGTCAGGGACAAGTCAGG	0.438																																																0			19											63	64	64					19																	52793720		2134	4275	6409	57485532	SO:0001583	missense	90321			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.676G>T	19.37:g.52793720G>T	ENSP00000409652:p.Asp226Tyr		57485532	B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	G	4.235	0.042541	0.08196	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.06449	3.3;3.3	2.38	-4.76	0.03229	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	N	0.04043	-0.29	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.001	T	0.41484	-0.9506	9	0.02654	T	1	.	1.2957	0.02069	0.1256:0.2505:0.2532:0.3707	.	241;226	G3XAE0;Q5HY98	.;ZN766_HUMAN	Y	226;241	ENSP00000409652:D226Y;ENSP00000352005:D241Y	ENSP00000352005:D241Y	D	+	1	0	ZNF766	57485532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.090000	0.00014	-1.621000	0.01562	-2.038000	0.00419	GAC		0.438	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		T	52793720	G	T	52793720	3	4	386	1	0	0	0	0	1	0	0	0	18140	1174	41	3	690	3	ZNF766	19	52793720	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	4881359	52793720	6335263	110	21095											
DUXA	503835	genome.wustl.edu	37	19	57669774	57669774	+	Silent	SNP	A	A	G			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr19:57669774A>G	ENST00000554048.2	-	4	359	c.360T>C	c.(358-360)ttT>ttC	p.F120F		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GGTTTTTCATAAATGCCTTGA	0.488																																																0			19											107	104	105					19																	57669774		2203	4300	6503	62361586	SO:0001819	synonymous_variant	503835				CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"Homeoboxes / PRD class"	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.360T>C	19.37:g.57669774A>G			62361586		Silent	SNP	ENST00000554048.2	37	CCDS33126.1																																																																																				0.488	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		G	57669774	A	G	57669774	2	3	386	1	0	0	0	0	0	0	0	1	4834	359	13	4		4	DUXA	19	57669774	Silent	SNP	A	TCGA-36-2534-01A-01D-1526-09	4876054	57669774	1459209	111	21096											
MYLK2	85366	genome.wustl.edu	37	20	30419940	30419940	+	Splice_Site	SNP	G	G	A	rs188633312		TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr20:30419940G>A	ENST00000375994.2	+	11	1983		c.e11+1		MYLK2_ENST00000468730.1_Splice_Site|MYLK2_ENST00000375985.4_Splice_Site			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2						cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCGCTGGAAGGTACCGCTGGA	0.577																																																0			20											28	26	27					20																	30419940		2203	4300	6503	29883601	SO:0001630	splice_region_variant	85366			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1710+1G>A	20.37:g.30419940G>A			29883601	Q569L1|Q96I84	Splice_Site	SNP	ENST00000375994.2	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783361	0.70222	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3805	0.87403	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYLK2	29883601	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.409000	0.97331	2.595000	0.87683	0.655000	0.94253	.		0.577	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118	Intron	A	30419940	G	A	30419940	5	1	386	1	0	0	0	0	0	0	1	0	10057	1275	44	2	1753	2	MYLK2	20	30419940	Splice_Site	SNP	G	TCGA-36-2534-01A-01D-1526-09		30419940	32605580	112	21097											
TM9SF4	9777	genome.wustl.edu	37	20	30753155	30753155	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr20:30753155G>C	ENST00000398022.2	+	18	2072	c.1837G>C	c.(1837-1839)Gtc>Ctc	p.V613L	TM9SF4_ENST00000217315.5_Missense_Mutation_p.V596L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	613						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGCCCTCATGGTCTTGTCCTT	0.527																																																0			20											276	193	221					20																	30753155		2203	4300	6503	30216816	SO:0001583	missense	9777			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1837G>C	20.37:g.30753155G>C	ENSP00000381104:p.Val613Leu		30216816	B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192595	0.78902	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.45668	1.48;0.89	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.73753	2.245	0.80722	D	1	B;P	0.44260	0.209;0.83	B;B	0.37943	0.15;0.261	T	0.55490	-0.8133	10	0.48119	T	0.1	-24.758	18.0523	0.89353	0.0:0.0:1.0:0.0	.	520;613	B4DH88;Q92544	.;TM9S4_HUMAN	L	613;596	ENSP00000381104:V613L;ENSP00000217315:V596L	ENSP00000217315:V596L	V	+	1	0	TM9SF4	30216816	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.823000	0.86660	2.485000	0.83878	0.561000	0.74099	GTC		0.527	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		C	30753155	G	C	30753155	3	2	386	1	0	0	0	0	1	0	0	0	15980	1261	44	3	1907	3	TM9SF4	20	30753155	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	333215	30753155	32272365	113	21098											
PRDM15	63977	genome.wustl.edu	37	21	43221550	43221550	+	Silent	SNP	C	C	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr21:43221550C>A	ENST00000269844.3	-	31	4484	c.4374G>T	c.(4372-4374)ggG>ggT	p.G1458G	PRDM15_ENST00000422911.1_Silent_p.G1149G|PRDM15_ENST00000447207.2_Silent_p.G1092G|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Silent_p.G1112G|PRDM15_ENST00000398548.1_Silent_p.G1129G	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TAAGCTGGCTCCCCAGGGGCG	0.662																																																0			21											81	72	75					21																	43221550		2203	4300	6503	42094619	SO:0001819	synonymous_variant	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4374G>T	21.37:g.43221550C>A			42094619	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	CCDS13676.1																																																																																				0.662	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		A	43221550	C	A	43221550	2	1	386	1	0	0	0	0	0	0	0	1	12459	842	30	3		3	PRDM15	21	43221550	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09		43221550	4908345	114	21099											
SLC25A1	6576	genome.wustl.edu	37	22	19166130	19166130	+	Silent	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr22:19166130C>T	ENST00000215882.5	-	1	213	c.57G>A	c.(55-57)aaG>aaA	p.K19K	CLTCL1_ENST00000442042.2_5'Flank|SLC25A1_ENST00000461267.1_5'Flank|SLC25A1_ENST00000451283.1_5'Flank	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	19					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TCAGCTTGGCCTTCCCGGAcg	0.811																																																0			22											2	3	3					22																	19166130		1219	2387	3606	17546130	SO:0001819	synonymous_variant	6576			U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"Solute carriers"	10979	protein-coding gene	gene with protein product		190315	"solute carrier family 20 (mitochondrial citrate transporter), member 3"	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.57G>A	22.37:g.19166130C>T			17546130	A8K8E8|Q9BSK6	Silent	SNP	ENST00000215882.5	37	CCDS13758.1																																																																																				0.811	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316441.1	NM_005984		T	19166130	C	T	19166130	2	4	386	1	0	0	0	0	0	0	0	1	14474	680	24	2		2	SLC25A1	22	19166130	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09		19166130	32138436	115	21100											
TMPRSS6	164656	genome.wustl.edu	37	22	37499388	37499388	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr22:37499388G>A	ENST00000346753.3	-	2	213	c.97C>T	c.(97-99)Ccg>Tcg	p.P33S	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24S|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24S|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33S|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.P24S	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	33					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ATCCCCTCCGGCTCCGCTTCC	0.667																																																0			22											88	94	92					22																	37499388		2203	4300	6503	35829334	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.97C>T	22.37:g.37499388G>A	ENSP00000334962:p.Pro33Ser		35829334	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166171	0.38217	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91577	-2.86;-2.87;-2.86;-2.86;-0.94;-2.35	4.03	4.03	0.46877	.	0.338840	0.21513	N	0.073342	D	0.91831	0.7415	L	0.36672	1.1	0.32480	N	0.541569	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	D	0.91885	0.5519	10	0.45353	T	0.12	.	12.0441	0.53469	0.0:0.0:1.0:0.0	.	33;24;33	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	S	24;33;24;24;33;24	ENSP00000371211:P24S;ENSP00000334962:P33S;ENSP00000385453:P24S;ENSP00000384964:P24S;ENSP00000397691:P33S;ENSP00000400317:P24S	ENSP00000334962:P33S	P	-	1	0	TMPRSS6	35829334	1.000000	0.71417	0.980000	0.43619	0.127000	0.20565	2.747000	0.47475	1.970000	0.57323	0.498000	0.49722	CCG		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		A	37499388	G	A	37499388	3	1	386	1	0	0	0	0	1	0	0	0	16251	1203	42	2	2406	2	TMPRSS6	22	37499388	Missense_Mutation	SNP	G	TCGA-36-2534-01A-01D-1526-09	18333258	37499388	13805178	116	21101											
TOB2	10766	genome.wustl.edu	37	22	41832754	41832754	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chr22:41832754C>T	ENST00000327492.3	-	2	1302	c.596G>A	c.(595-597)aGt>aAt	p.S199N		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	199					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ACCCCCACCACTTGCTGCCCC	0.642																																																0			22											18	18	18					22																	41832754		2199	4299	6498	40162700	SO:0001583	missense	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.596G>A	22.37:g.41832754C>T	ENSP00000331305:p.Ser199Asn		40162700	Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	C	0.135	-1.108483	0.01813	.	.	ENSG00000183864	ENST00000327492	T	0.39787	1.06	4.89	1.55	0.23275	.	0.799333	0.12106	N	0.499068	T	0.18841	0.0452	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	10	0.02654	T	1	.	5.5456	0.17061	0.0:0.6521:0.1639:0.184	.	199	Q14106	TOB2_HUMAN	N	199	ENSP00000331305:S199N	ENSP00000331305:S199N	S	-	2	0	TOB2	40162700	0.608000	0.26966	0.000000	0.03702	0.629000	0.37895	0.000000	0.12993	0.303000	0.22785	-0.136000	0.14681	AGT		0.642	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		T	41832754	C	T	41832754	3	4	386	1	0	0	0	0	1	0	0	0	16348	565	20	2	442	2	TOB2	22	41832754	Missense_Mutation	SNP	C	TCGA-36-2534-01A-01D-1526-09	4333366	41832754	9471812	117	21102											
FAM47B	170062	genome.wustl.edu	37	X	34962025	34962025	+	Silent	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chrX:34962025C>T	ENST00000329357.5	+	1	1113	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	359								p.D359D(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						AGCTGGAAGACGCACGGGCTC	0.537																																																1	Substitution - coding silent(1)	large_intestine(1)	X											44	42	43					X																	34962025		2202	4300	6502	34871946	SO:0001819	synonymous_variant	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.1077C>T	X.37:g.34962025C>T			34871946	Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	CCDS14236.1																																																																																				0.537	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		T	34962025	C	T	34962025	2	4	386	1	0	0	0	0	0	0	0	1	5570	535	19	1		1	FAM47B	23	34962025	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09		34962025	120308535	118	21103											
ELK1	2002	genome.wustl.edu	37	X	47497528	47497528	+	Silent	SNP	C	C	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chrX:47497528C>A	ENST00000247161.3	-	4	807	c.708G>T	c.(706-708)gtG>gtT	p.V236V	ELK1_ENST00000376983.3_Silent_p.V236V|ELK1_ENST00000592066.1_Silent_p.V182V|ELK1_ENST00000343894.4_Intron	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	236					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						AACCCGGCTCCACATTAAGCT	0.572																																																0			X											10	11	11					X																	47497528		2174	4198	6372	47382472	SO:0001819	synonymous_variant	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.708G>T	X.37:g.47497528C>A			47382472	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	ENST00000247161.3	37	CCDS14283.1																																																																																				0.572	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		A	47497528	C	A	47497528	2	1	386	1	0	0	0	0	0	0	0	1	5059	581	21	3		3	ELK1	23	47497528	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	12535503	47497528	107773032	119	21104											
XKRX	402415	genome.wustl.edu	37	X	100169627	100169627	+	Silent	SNP	G	G	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chrX:100169627G>A	ENST00000372956.2	-	3	1654	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000328526.5_Silent_p.G363G			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TATAGTGCAGGCCCATATGTC	0.453																																																0			X											182	163	170					X																	100169627		2203	4300	6503	100056283	SO:0001819	synonymous_variant	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1050C>T	X.37:g.100169627G>A			100056283	B2RNN6|B4DKU2|Q5H9J6	Silent	SNP	ENST00000372956.2	37	CCDS14476.2																																																																																				0.453	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		A	100169627	G	A	100169627	2	1	386	1	0	0	0	0	0	0	0	1	17439	1190	42	2		2	XKRX	23	100169627	Silent	SNP	G	TCGA-36-2534-01A-01D-1526-09	52672099	100169627	55100933	120	21105											
LONRF3	79836	genome.wustl.edu	37	X	118143138	118143138	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chrX:118143138T>A	ENST00000371628.3	+	7	1611	c.1580T>A	c.(1579-1581)aTa>aAa	p.I527K	LONRF3_ENST00000304778.7_Missense_Mutation_p.I486K|LONRF3_ENST00000422289.2_Missense_Mutation_p.I271K|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	527							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GAGGAGCTCATAGCTAAATTC	0.363																																																0			X											113	102	106					X																	118143138		2203	4300	6503	118027166	SO:0001583	missense	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1580T>A	X.37:g.118143138T>A	ENSP00000360690:p.Ile527Lys		118027166	Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.0|29.0	4.968808|4.968808	0.92855|0.92855	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000439603|ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289	.|T;T;T;T	.|0.21543	.|2.0;2.0;2.0;2.0	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Zinc finger, RING/FYVE/PHD-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46580|0.46580	0.1400|0.1400	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;0.999;1.0	.|D;D;D	.|0.78314	.|0.969;0.991;0.987	T|T	0.46965|0.46965	-0.9153|-0.9153	5|10	.|0.87932	.|D	.|0	-42.109|-42.109	14.5874|14.5874	0.68335|0.68335	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|271;486;527	.|B3KUN7;Q496Y0-2;Q496Y0	.|.;.;LONF3_HUMAN	Q|K	292|486;486;527;271	.|ENSP00000360691:I486K;ENSP00000307732:I486K;ENSP00000360690:I527K;ENSP00000408894:I271K	.|ENSP00000307732:I486K	H|I	+|+	3|2	2|0	LONRF3|LONRF3	118027166|118027166	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.957000|0.957000	0.61999|0.61999	8.008000|8.008000	0.88588|0.88588	2.044000|2.044000	0.60594|0.60594	0.486000|0.486000	0.48141|0.48141	CAT|ATA		0.363	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		A	118143138	T	A	118143138	3	1	386	1	0	0	0	0	1	0	0	0	8896	1406	49	5	1606	5	LONRF3	23	118143138	Missense_Mutation	SNP	T	TCGA-36-2534-01A-01D-1526-09	17973511	118143138	37127422	121	21106											
RHOXF2	727940	genome.wustl.edu	37	X	119211186	119211186	+	Silent	SNP	C	C	T			TCGA-36-2534-01A-01D-1526-09	TCGA-36-2534-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e1740f99-948b-4312-89da-2f7ed9a3037c	030e27c3-a11a-49cb-87ef-3bb192d41c5b	g.chrX:119211186C>T	ENST00000371402.2	-	2	336	c.147G>A	c.(145-147)gaG>gaA	p.E49E	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	49					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CTTGCTCAGGCTCAGGCTGTG	0.512																																																0			X											7	7	7					X																	119211186		1782	3556	5338	119095214	SO:0001819	synonymous_variant	727940				CCDS43985.1	Xq24	2011-06-20			ENSG00000203989	ENSG00000203989		"Homeoboxes / PRD class"	33519	protein-coding gene	gene with protein product							Standard	NM_001099685		Approved		uc004esj.4	P0C7M4	OTTHUMG00000022288	ENST00000371402.2:c.147G>A	X.37:g.119211186C>T			119095214		Silent	SNP	ENST00000371402.2	37	CCDS43985.1																																																																																				0.512	RHOXF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058081.2	NM_001099685		T	119211186	C	T	119211186	2	4	386	1	0	0	0	0	0	0	0	1	13351	796	28	2		2	RHOXF2	23	119211186	Silent	SNP	C	TCGA-36-2534-01A-01D-1526-09	1068048	119211186	36059374	122	21107											
AK5	26289	genome.wustl.edu	37	1	78001623	78001623	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr1:78001623T>C	ENST00000354567.2	+	13	1783	c.1520T>C	c.(1519-1521)gTg>gCg	p.V507A	AK5_ENST00000344720.5_Missense_Mutation_p.V481A|AK5_ENST00000478255.1_Missense_Mutation_p.V22A	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	507	Adenylate kinase 2.|LID 2. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGCCTGCCTGTGGACGACACC	0.567																																																0			1											130	95	107					1																	78001623		2203	4300	6503	77774211	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1520T>C	1.37:g.78001623T>C	ENSP00000346577:p.Val507Ala		77774211	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.667258	0.00765	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478255	T;T;T	0.73152	-0.72;-0.72;-0.72	5.42	-7.98	0.01135	.	2.364200	0.01319	N	0.010889	T	0.10637	0.0260	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11690	-1.0577	10	0.02654	T	1	-20.2877	2.5874	0.04834	0.1511:0.118:0.2607:0.4702	.	507	Q9Y6K8	KAD5_HUMAN	A	507;481;22	ENSP00000346577:V507A;ENSP00000341430:V481A;ENSP00000433915:V22A	ENSP00000341430:V481A	V	+	2	0	AK5	77774211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.407000	0.02488	-0.970000	0.03569	-0.239000	0.12128	GTG		0.567	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		C	78001623	T	C	78001623	3	2	387	1	0	0	0	0	1	0	0	0	443	1696	59	4	1570	4	AK5	1	78001623	Missense_Mutation	SNP	T	TCGA-36-2537-01A-01D-1526-09		78001623	171248998	1	21108											
ABCD3	5825	genome.wustl.edu	37	1	94946050	94946050	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr1:94946050G>A	ENST00000370214.4	+	9	739	c.715G>A	c.(715-717)Gtt>Att	p.V239I	ABCD3_ENST00000536817.1_Missense_Mutation_p.V166I|ABCD3_ENST00000394233.2_Missense_Mutation_p.V239I|ABCD3_ENST00000454898.2_Missense_Mutation_p.V263I	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	239	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CTACTTGGTTGTTTCTGGGCT	0.378																																																0			1											116	112	113					1																	94946050		2203	4300	6503	94718638	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.715G>A	1.37:g.94946050G>A	ENSP00000359233:p.Val239Ile		94718638	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	6.977	0.550235	0.13374	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.13	0.637	0.17735	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.326514	0.32028	N	0.006693	T	0.63522	0.2518	N	0.04260	-0.245	0.38981	D	0.958953	B;B;B	0.27316	0.002;0.175;0.001	B;B;B	0.22386	0.006;0.039;0.006	T	0.55939	-0.8061	10	0.10111	T	0.7	-2.7059	5.8358	0.18607	0.3964:0.0:0.4825:0.121	.	263;239;239	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	I	239;263;166;239	ENSP00000377780:V239I;ENSP00000403357:V263I;ENSP00000440692:V166I;ENSP00000359233:V239I	ENSP00000359233:V239I	V	+	1	0	ABCD3	94718638	1.000000	0.71417	0.844000	0.33320	0.998000	0.95712	0.632000	0.24583	0.151000	0.19162	0.650000	0.86243	GTT		0.378	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		A	94946050	G	A	94946050	3	1	387	1	0	0	0	0	1	0	0	0	62	1377	48	2	780	2	ABCD3	1	94946050	Missense_Mutation	SNP	G	TCGA-36-2537-01A-01D-1526-09	16944427	94946050	154304571	2	21109											
HBXIP	10542	genome.wustl.edu	37	1	110950282	110950282	+	5'UTR	SNP	G	G	C	rs143658007	byFrequency	TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr1:110950282G>C	ENST00000602318.1	-	0	48				LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5_ENST00000256644.4_Silent_p.A69A|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)		p.A69A(1)									CCAGCGGCACGGCACGTCCTT	0.632													G|||	31	0.0061901	0.0227	0.0014	5008	,	,		16802	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	prostate(1)	1						G		66,4340	61.1+/-98.1	1,64,2138	80	66	71		207	-5.9	0	1	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HBXIP	NM_006402.2		1,66,6436	CC,CG,GG		0.0233,1.498,0.5228		69/174	110950282	68,12938	2203	4300	6503	110751805	SO:0001623	5_prime_UTR_variant	10542			AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000602318.1:c.-40C>G	1.37:g.110950282G>C			110751805	Q6IBD8	Silent	SNP	ENST00000602318.1	37																																																																																					0.632	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		C	110950282	G	C	110950282	1	2	387	0	1	0	0	0	0	0	0	0	6988	1103	39	3		3	HBXIP	1	110950282	5'UTR	SNP	G	TCGA-36-2537-01A-01D-1526-09	16004232	110950282	138300339	3	21110											
YSK4	80122	genome.wustl.edu	37	2	135745642	135745642	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr2:135745642G>A	ENST00000375845.3	-	7	830	c.800C>T	c.(799-801)gCc>gTc	p.A267V	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.A284V|MAP3K19_ENST00000358371.4_Missense_Mutation_p.A154V|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	267							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTTAACTAGGGCTCCCGGAGG	0.458																																																0			2											81	85	84					2																	135745642		2203	4300	6503	135462112	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.800C>T	2.37:g.135745642G>A	ENSP00000365005:p.Ala267Val		135462112	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	2.061	-0.415448	0.04766	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.67865	-0.29;-0.29;2.07	4.95	2.71	0.32032	.	0.372870	0.19575	N	0.111009	T	0.42268	0.1195	N	0.22421	0.69	0.09310	N	0.999997	B;B;B	0.23377	0.084;0.041;0.051	B;B;B	0.21917	0.037;0.022;0.016	T	0.13229	-1.0517	10	0.16896	T	0.51	.	0.7798	0.01038	0.228:0.1438:0.3933:0.2349	.	154;284;267	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	V	267;154;284	ENSP00000365005:A267V;ENSP00000351140:A154V;ENSP00000376647:A284V	ENSP00000351140:A154V	A	-	2	0	YSK4	135462112	0.002000	0.14202	0.053000	0.19242	0.005000	0.04900	0.335000	0.19806	0.436000	0.26393	0.650000	0.86243	GCC		0.458	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		A	135745642	G	A	135745642	3	1	387	1	0	0	0	0	1	0	0	0	17495	1203	42	2	3202	2	YSK4	2	135745642	Missense_Mutation	SNP	G	TCGA-36-2537-01A-01D-1526-09		135745642	107453731	4	21111											
IL17RE	132014	genome.wustl.edu	37	3	9949955	9949955	+	Silent	SNP	G	G	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr3:9949955G>T	ENST00000383814.3	+	7	804	c.699G>T	c.(697-699)ctG>ctT	p.L233L	IL17RE_ENST00000421412.1_Silent_p.L266L|IL17RE_ENST00000454190.2_Silent_p.L233L|IL17RE_ENST00000295980.3_Silent_p.L233L	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	233					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CTGTAGAGCTGCCTTATGAAT	0.512																																																0			3											106	96	99					3																	9949955		2203	4300	6503	9924955	SO:0001819	synonymous_variant	132014			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"Interleukins and interleukin receptors"	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.699G>T	3.37:g.9949955G>T			9924955	B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	CCDS2589.1																																																																																				0.512	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		T	9949955	G	T	9949955	2	4	387	1	0	0	0	0	0	0	0	1	7643	1306	46	3		3	IL17RE	3	9949955	Silent	SNP	G	TCGA-36-2537-01A-01D-1526-09		9949955	188072475	5	21112											
WDR52	55779	genome.wustl.edu	37	3	113128097	113128097	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr3:113128097T>C	ENST00000295868.2	-	7	908	c.746A>G	c.(745-747)aAc>aGc	p.N249S	WDR52_ENST00000393845.2_Missense_Mutation_p.N249S|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GTAGTCAGGGTTACTACCAAC	0.408																																																0			3											138	131	133					3																	113128097		2203	4300	6503	114610787	SO:0001583	missense	55779																														ENST00000295868.2:c.746A>G	3.37:g.113128097T>C	ENSP00000295868:p.Asn249Ser		114610787		Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	T	0.408	-0.915016	0.02415	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.66099	-0.19;1.13	6.04	-10.5	0.00291	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.19565	0.0470	N	0.00197	-1.87	0.09310	N	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.51787	-0.8661	9	0.07644	T	0.81	.	17.1494	0.86774	0.0:0.7068:0.1712:0.122	.	249	Q96MT7	WDR52_HUMAN	S	249	ENSP00000377428:N249S;ENSP00000295868:N249S	ENSP00000295868:N249S	N	-	2	0	WDR52	114610787	0.091000	0.21658	0.001000	0.08648	0.407000	0.30961	-0.522000	0.06237	-2.084000	0.00866	0.460000	0.39030	AAC		0.408	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			C	113128097	T	C	113128097	3	2	387	1	0	0	0	0	1	0	0	0	17304	1725	60	4	4949	4	WDR52	3	113128097	Missense_Mutation	SNP	T	TCGA-36-2537-01A-01D-1526-09	103178142	113128097	84894333	6	21113											
PIK3R4	30849	genome.wustl.edu	37	3	130398309	130398309	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr3:130398309T>G	ENST00000356763.3	-	20	4484	c.3927A>C	c.(3925-3927)aaA>aaC	p.K1309N	PIK3R4_ENST00000512677.1_5'Flank	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1309					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTGGTCCTACTTTCTGCTTAT	0.493																																																0			3											143	143	143					3																	130398309		2203	4300	6503	131880999	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3927A>C	3.37:g.130398309T>G	ENSP00000349205:p.Lys1309Asn		131880999	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	9.388	1.074727	0.20227	.	.	ENSG00000196455	ENST00000356763	T	0.05925	3.37	5.37	0.416	0.16416	WD40 repeat-like-containing domain (1);	0.047231	0.85682	D	0.000000	T	0.04137	0.0115	L	0.40543	1.245	0.42082	D	0.991258	B	0.30686	0.29	B	0.18263	0.021	T	0.51076	-0.8751	10	0.17369	T	0.5	-26.3514	7.2802	0.26308	0.0:0.4084:0.113:0.4786	.	1309	Q99570	PI3R4_HUMAN	N	1309	ENSP00000349205:K1309N	ENSP00000349205:K1309N	K	-	3	2	PIK3R4	131880999	0.471000	0.25862	0.563000	0.28383	0.804000	0.45430	-0.074000	0.11450	-0.220000	0.09988	-0.415000	0.06103	AAA		0.493	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		G	130398309	T	G	130398309	3	3	387	1	0	0	0	0	1	0	0	0	11921	1606	56	5	153	5	PIK3R4	3	130398309	Missense_Mutation	SNP	T	TCGA-36-2537-01A-01D-1526-09	17270212	130398309	67624121	7	21114											
SLC9A9	285195	genome.wustl.edu	37	3	143212562	143212562	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr3:143212562G>A	ENST00000316549.6	-	11	1456	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	416					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCAGGAGGAAGGAGAGGGGAT	0.428																																																0			3											141	138	139					3																	143212562		2203	4300	6503	144695252	SO:0001819	synonymous_variant	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1248C>T	3.37:g.143212562G>A			144695252	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	CCDS33872.1																																																																																				0.428	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		A	143212562	G	A	143212562	2	1	387	1	0	0	0	0	0	0	0	1	14724	987	35	2		2	SLC9A9	3	143212562	Silent	SNP	G	TCGA-36-2537-01A-01D-1526-09	12814253	143212562	54809868	8	21115											
TMEM155	132332	genome.wustl.edu	37	4	122681608	122681608	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr4:122681608G>A	ENST00000337677.5	-	6	792	c.234C>T	c.(232-234)agC>agT	p.S78S	TMEM155_ENST00000394394.1_Silent_p.S78S|TMEM155_ENST00000394396.1_Silent_p.S78S	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	78						extracellular region (GO:0005576)				breast(1)|lung(5)	6						cttgtggggtgctgcggggac	0.527																																																0			4											39	35	37					4																	122681608		2127	4141	6268	122901058	SO:0001819	synonymous_variant	132332			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.234C>T	4.37:g.122681608G>A			122901058	D3DNW9|Q96NI2	Silent	SNP	ENST00000337677.5	37	CCDS3721.1																																																																																				0.527	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		A	122681608	G	A	122681608	2	1	387	1	0	0	0	0	0	0	0	1	16072	1310	46	2		2	TMEM155	4	122681608	Silent	SNP	G	TCGA-36-2537-01A-01D-1526-09		122681608	68472668	9	21116											
ZFP42	132625	genome.wustl.edu	37	4	188924559	188924559	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr4:188924559A>T	ENST00000326866.4	+	4	1006	c.598A>T	c.(598-600)Agg>Tgg	p.R200W	ZFP42_ENST00000509524.1_Missense_Mutation_p.R200W	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	200					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TAGGAAGTTGAGGAATAGAGC	0.483																																																0			4											117	121	120					4																	188924559		2203	4300	6503	189161553	SO:0001583	missense	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.598A>T	4.37:g.188924559A>T	ENSP00000317686:p.Arg200Trp		189161553	D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695494	0.68386	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.12984	2.63;2.63	4.39	1.84	0.25277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.110966	0.64402	D	0.000019	T	0.27384	0.0672	L	0.53780	1.695	0.31488	N	0.666326	D	0.71674	0.998	D	0.69824	0.966	T	0.14559	-1.0468	10	0.66056	D	0.02	.	9.8504	0.41053	0.6703:0.3297:0.0:0.0	.	200	Q96MM3	ZFP42_HUMAN	W	200	ENSP00000317686:R200W;ENSP00000424662:R200W	ENSP00000317686:R200W	R	+	1	2	ZFP42	189161553	1.000000	0.71417	0.002000	0.10522	0.008000	0.06430	3.945000	0.56637	0.416000	0.25844	0.533000	0.62120	AGG		0.483	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		T	188924559	A	T	188924559	3	4	387	1	0	0	0	0	1	0	0	0	17650	295	11	5	600	5	ZFP42	4	188924559	Missense_Mutation	SNP	A	TCGA-36-2537-01A-01D-1526-09	66242951	188924559	2229717	10	21117											
GABRA1	2554	genome.wustl.edu	37	5	161302625	161302625	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr5:161302625C>G	ENST00000428797.2	+	7	891	c.536C>G	c.(535-537)gCt>gGt	p.A179G	GABRA1_ENST00000023897.6_Missense_Mutation_p.A179G|GABRA1_ENST00000420560.1_Missense_Mutation_p.A179G|GABRA1_ENST00000393943.4_Missense_Mutation_p.A179G|GABRA1_ENST00000437025.2_Missense_Mutation_p.A179G|GABRA1_ENST00000444819.1_Missense_Mutation_p.A179G	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	179					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GATGCCCATGCTTGCCCACTA	0.383																																																0			5											171	169	170					5																	161302625		2203	4300	6503	161235203	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.536C>G	5.37:g.161302625C>G	ENSP00000393097:p.Ala179Gly		161235203	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987914	0.93106	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.173652	0.49916	D	0.000122	D	0.87055	0.6082	M	0.85945	2.785	0.80722	D	1	P	0.42584	0.784	P	0.51657	0.676	D	0.88603	0.3151	10	0.66056	D	0.02	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	179	P14867	GBRA1_HUMAN	G	179	ENSP00000023897:A179G;ENSP00000393097:A179G;ENSP00000377517:A179G;ENSP00000415441:A179G;ENSP00000408041:A179G;ENSP00000414232:A179G	ENSP00000023897:A179G	A	+	2	0	GABRA1	161235203	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.723000	0.84788	2.595000	0.87683	0.650000	0.86243	GCT		0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		G	161302625	C	G	161302625	3	3	387	1	0	0	0	0	1	0	0	0	6160	797	28	3	554	3	GABRA1	5	161302625	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09		161302625	19612635	11	21118											
LTA	4049	genome.wustl.edu	37	6	31541137	31541137	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr6:31541137C>A	ENST00000454783.1	+	4	543	c.285C>A	c.(283-285)agC>agA	p.S95R	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.S95R	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	95					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TCTCCTTGAGCAACAATTCTC	0.567																																																0			6											116	99	104					6																	31541137		2203	4300	6503	31649116	SO:0001583	missense	4049			X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"Tumor necrosis factor (ligand) superfamily"	6709	protein-coding gene	gene with protein product	"TNF superfamily member 1"	153440	"lymphotoxin alpha (TNF superfamily, member 1)"	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.285C>A	6.37:g.31541137C>A	ENSP00000403495:p.Ser95Arg		31649116	Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414427	0.25465	.	.	ENSG00000226979	ENST00000454783;ENST00000418386;ENST00000436827	D;D	0.94650	-3.48;-3.48	5.16	5.16	0.70880	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.491060	0.24798	N	0.035504	D	0.85906	0.5806	L	0.37630	1.12	0.41939	D	0.990609	B;B;B	0.20988	0.009;0.05;0.015	B;B;B	0.22880	0.011;0.042;0.012	T	0.81145	-0.1066	10	0.16420	T	0.52	-5.4097	14.0181	0.64536	0.0:1.0:0.0:0.0	.	95;95;95	E7ET53;F8WB56;P01374	.;.;TNFB_HUMAN	R	95	ENSP00000403495:S95R;ENSP00000413450:S95R	ENSP00000413450:S95R	S	+	3	2	LTA	31649116	0.957000	0.32711	1.000000	0.80357	0.974000	0.67602	0.901000	0.28445	2.676000	0.91093	0.655000	0.94253	AGC		0.567	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			A	31541137	C	A	31541137	3	1	387	1	0	0	0	0	1	0	0	0	9068	709	25	3	295	3	LTA	6	31541137	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09		31541137	139573930	12	21119											
VPS52	6293	genome.wustl.edu	37	6	33238021	33238021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr6:33238021C>A	ENST00000445902.2	-	2	348	c.130G>T	c.(130-132)Gag>Tag	p.E44*	RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000436044.2_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	44					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATATCCAACTCCCCAAGTTGC	0.493																																																0			6											114	117	116					6																	33238021		2203	4300	6503	33345999	SO:0001587	stop_gained	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.130G>T	6.37:g.33238021C>A	ENSP00000409952:p.Glu44*		33345999	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	38	6.807489	0.97853	.	.	ENSG00000223501	ENST00000445902;ENST00000418054	.	.	.	5.42	5.42	0.78866	.	0.123536	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-13.8019	14.5864	0.68328	0.0:1.0:0.0:0.0	.	.	.	.	X	44;22	.	ENSP00000414785:E22X	E	-	1	0	VPS52	33345999	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.434000	0.59935	2.826000	0.97356	0.579000	0.79373	GAG		0.493	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		A	33238021	C	A	33238021	4	1	387	1	0	0	0	0	0	1	0	0	17214	864	30	3	2117	3	VPS52	6	33238021	Nonsense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09	1696884	33238021	137877046	13	21120											
CUL7	9820	genome.wustl.edu	37	6	43008015	43008015	+	Silent	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr6:43008015C>T	ENST00000265348.3	-	22	4258	c.4173G>A	c.(4171-4173)gtG>gtA	p.V1391V	CUL7_ENST00000535468.1_Silent_p.V1475V			Q14999	CUL7_HUMAN	cullin 7	1391					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGGACAAGCACAGACACTT	0.577																																																0			6											179	124	143					6																	43008015		2203	4300	6503	43115993	SO:0001819	synonymous_variant	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4173G>A	6.37:g.43008015C>T			43115993	B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	CCDS4881.1																																																																																				0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		T	43008015	C	T	43008015	2	4	387	1	0	0	0	0	0	0	0	1	4060	697	25	2		2	CUL7	6	43008015	Silent	SNP	C	TCGA-36-2537-01A-01D-1526-09	9769994	43008015	128107052	14	21121											
MDH2	4191	genome.wustl.edu	37	7	75686807	75686807	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr7:75686807G>C	ENST00000315758.5	+	3	409	c.315G>C	c.(313-315)aaG>aaC	p.K105N	MDH2_ENST00000432020.2_Missense_Mutation_p.K105N|MDH2_ENST00000443006.1_5'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	105					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						TCCCCAGAAAGCCAGGTTTGT	0.473																																																0			7											99	90	93					7																	75686807		2203	4300	6503	75524743	SO:0001583	missense	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.315G>C	7.37:g.75686807G>C	ENSP00000327070:p.Lys105Asn		75524743	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811402	0.50527	.	.	ENSG00000146701	ENST00000315758;ENST00000432020	D;D	0.90385	-2.66;-2.66	5.85	-2.91	0.05631	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.041092	0.85682	D	0.000000	D	0.96769	0.8945	H	0.99425	4.56	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.977	D	0.95446	0.8530	10	0.87932	D	0	-30.5468	12.0691	0.53605	0.4918:0.0:0.5082:0.0	.	105;105	E9PDB2;P40926	.;MDHM_HUMAN	N	105	ENSP00000327070:K105N;ENSP00000408649:K105N	ENSP00000327070:K105N	K	+	3	2	MDH2	75524743	0.993000	0.37304	0.988000	0.46212	0.172000	0.22775	0.403000	0.20982	-0.386000	0.07821	-1.267000	0.01435	AAG		0.473	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			C	75686807	G	C	75686807	3	2	387	1	0	0	0	0	1	0	0	0	9410	962	34	3	325	3	MDH2	7	75686807	Missense_Mutation	SNP	G	TCGA-36-2537-01A-01D-1526-09		75686807	83451856	15	21122											
GNG11	2791	genome.wustl.edu	37	7	93555456	93555456	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr7:93555456G>A	ENST00000248564.5	+	2	589	c.150G>A	c.(148-150)gaG>gaA	p.E50E		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	50					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GTTCTGGAGAGGATCCTCTAG	0.338																																																0			7											81	89	87					7																	93555456		2203	4299	6502	93393392	SO:0001819	synonymous_variant	2791				CCDS5634.1	7q31-q32	2008-07-18			ENSG00000127920	ENSG00000127920			4403	protein-coding gene	gene with protein product	"G protein gamma-11 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit"	604390				7665596	Standard	NM_004126		Approved	GNGT11	uc003und.3	P61952	OTTHUMG00000023411	ENST00000248564.5:c.150G>A	7.37:g.93555456G>A			93393392	P50152	Silent	SNP	ENST00000248564.5	37	CCDS5634.1																																																																																				0.338	GNG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254719.3	NM_004126		A	93555456	G	A	93555456	2	1	387	1	0	0	0	0	0	0	0	1	6524	991	35	2		2	GNG11	7	93555456	Silent	SNP	G	TCGA-36-2537-01A-01D-1526-09	17868649	93555456	65583207	16	21123											
DLC1	10395	genome.wustl.edu	37	8	12957274	12957274	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr8:12957274C>T	ENST00000276297.4	-	9	2981	c.2572G>A	c.(2572-2574)Gac>Aac	p.D858N	DLC1_ENST00000358919.2_Missense_Mutation_p.D421N|DLC1_ENST00000512044.2_Missense_Mutation_p.D455N|DLC1_ENST00000520226.1_Missense_Mutation_p.D347N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	858	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGGGGCTGTCGCTACTGTTT	0.587																																																0			8											68	61	63					8																	12957274		2203	4300	6503	13001645	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2572G>A	8.37:g.12957274C>T	ENSP00000276297:p.Asp858Asn		13001645	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	c	0.999	-0.691407	0.03303	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.05855	3.63;3.38;3.38;3.38	4.68	3.81	0.43845	.	0.627278	0.15416	N	0.263516	T	0.08492	0.0211	L	0.55481	1.735	0.32232	N	0.573814	D;P;P	0.57257	0.979;0.824;0.89	B;B;B	0.43478	0.421;0.06;0.128	T	0.14699	-1.0463	10	0.38643	T	0.18	.	9.7919	0.40710	0.0:0.8425:0.0:0.1575	.	858;455;421	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	N	858;421;455;347	ENSP00000276297:D858N;ENSP00000351797:D421N;ENSP00000422595:D455N;ENSP00000428028:D347N	ENSP00000276297:D858N	D	-	1	0	DLC1	13001645	0.201000	0.23410	0.011000	0.14972	0.001000	0.01503	2.056000	0.41355	1.358000	0.45922	-0.119000	0.15052	GAC		0.587	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		T	12957274	C	T	12957274	3	4	387	1	0	0	0	0	1	0	0	0	4550	884	31	1	2054	1	DLC1	8	12957274	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09		12957274	133406748	17	21124											
KCNQ3	3786	genome.wustl.edu	37	8	133144484	133144484	+	Silent	SNP	G	G	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr8:133144484G>T	ENST00000388996.4	-	14	2247	c.1827C>A	c.(1825-1827)tcC>tcA	p.S609S	KCNQ3_ENST00000521134.1_Silent_p.S489S|KCNQ3_ENST00000519445.1_Silent_p.S597S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	609					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)			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)	TTTCTGATGTGGATGGTCTGG	0.388																																																0			8											149	140	143					8																	133144484		2203	4300	6503	133213666	SO:0001819	synonymous_variant	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.1827C>A	8.37:g.133144484G>T			133213666	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																				0.388	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		T	133144484	G	T	133144484	2	4	387	1	0	0	0	0	0	0	0	1	8084	1335	47	3		3	KCNQ3	8	133144484	Silent	SNP	G	TCGA-36-2537-01A-01D-1526-09	120187210	133144484	13219538	18	21125											
SLC45A4	57210	genome.wustl.edu	37	8	142229919	142229919	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr8:142229919A>G	ENST00000024061.3	-	3	594	c.287T>C	c.(286-288)cTc>cCc	p.L96P	SLC45A4_ENST00000519067.1_Missense_Mutation_p.L96P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.L89P|SLC45A4_ENST00000517878.1_Missense_Mutation_p.L147P	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GACATCGCCGAGGGCCAGACC	0.667																																																0			8											39	28	31					8																	142229919		2189	4293	6482	142299101	SO:0001583	missense	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.287T>C	8.37:g.142229919A>G	ENSP00000024061:p.Leu96Pro		142299101	Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611155	0.87258	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000519986	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.49	5.49	0.81192	.	0.154041	0.56097	D	0.000022	D	0.96349	0.8809	M	0.78637	2.42	0.80722	D	1	D;D;P	0.69078	0.997;0.996;0.902	D;D;D	0.68483	0.958;0.945;0.926	D	0.96897	0.9657	10	0.87932	D	0	-43.4976	15.5816	0.76448	1.0:0.0:0.0:0.0	.	147;96;96	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	P	96;147;89;96;78	ENSP00000429059:L96P;ENSP00000428137:L147P;ENSP00000400799:L89P;ENSP00000024061:L96P;ENSP00000429974:L78P	ENSP00000024061:L96P	L	-	2	0	SLC45A4	142299101	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	8.673000	0.91186	2.079000	0.62486	0.460000	0.39030	CTC		0.667	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		G	142229919	A	G	142229919	3	3	387	1	0	0	0	0	1	0	0	0	14646	304	11	4	2133	4	SLC45A4	8	142229919	Missense_Mutation	SNP	A	TCGA-36-2537-01A-01D-1526-09	9085435	142229919	4134103	19	21126											
UNC13B	10497	genome.wustl.edu	37	9	35377622	35377622	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr9:35377622G>A	ENST00000378495.3	+	15	1968	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	UNC13B_ENST00000396787.1_Silent_p.Q594Q|UNC13B_ENST00000378496.4_Silent_p.Q582Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	582					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCATGTGCAGCAGATGAAAA	0.507																																																0			9											61	54	56					9																	35377622		2203	4300	6503	35367622	SO:0001819	synonymous_variant	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1746G>A	9.37:g.35377622G>A			35367622	Q5VYM8	Silent	SNP	ENST00000378495.3	37	CCDS6579.1																																																																																				0.507	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		A	35377622	G	A	35377622	2	1	387	1	0	0	0	0	0	0	0	1	16985	962	34	2		2	UNC13B	9	35377622	Silent	SNP	G	TCGA-36-2537-01A-01D-1526-09		35377622	105835809	20	21127											
NRAP	3026	genome.wustl.edu	37	10	115348774	115348774	+	3'UTR	SNP	T	T	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr10:115348774T>A	ENST00000351270.3	+	0	2425				NRAP_ENST00000359988.3_Missense_Mutation_p.E1718V|NRAP_ENST00000369358.4_Missense_Mutation_p.E1726V|HABP2_ENST00000542051.1_3'UTR|NRAP_ENST00000360478.3_Missense_Mutation_p.E1683V|NRAP_ENST00000369360.3_Missense_Mutation_p.E1691V	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GTGCAGAATCTCAGTGGCATC	0.522																																																0			10											175	162	167					10																	115348774		2203	4300	6503	115338764	SO:0001624	3_prime_UTR_variant	4892				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.*646T>A	10.37:g.115348774T>A			115338764	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413691	0.83449	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.26957	1.95;1.95;1.79;1.7	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.64997	1.995	0.51233	D	0.999915	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.998	T	0.49331	-0.8951	10	0.72032	D	0.01	.	14.4789	0.67567	0.0:0.0:0.0:1.0	.	840;1719;1683;1718	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	V	1726;1691;1718;1683;840	ENSP00000358365:E1726V;ENSP00000358367:E1691V;ENSP00000353078:E1718V;ENSP00000353666:E1683V	ENSP00000353078:E1718V	E	-	2	0	NRAP	115338764	1.000000	0.71417	0.996000	0.52242	0.778000	0.44026	6.566000	0.73978	2.159000	0.67721	0.454000	0.30748	GAG		0.522	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		A	115348774	T	A	115348774	1	1	387	0	1	0	0	0	0	0	0	0	10638	1551	54	5		5	NRAP	10	115348774	3'UTR	SNP	T	TCGA-36-2537-01A-01D-1526-09		115348774	20185973	21	21128											
DCHS1	8642	genome.wustl.edu	37	11	6662540	6662540	+	Missense_Mutation	SNP	C	C	T	rs147257039		TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr11:6662540C>T	ENST00000299441.3	-	2	716	c.305G>A	c.(304-306)cGt>cAt	p.R102H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	102	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGGGCTGTACGGACGACCCC	0.622													C|||	1	0.000199681	0	0	5008	,	,		19892	0		0	False		,,,				2504	0.001															0			11						C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	71	60	64		305	5.4	1	11	dbSNP_134	64	0,8592		0,0,4296	no	missense	DCHS1	NM_003737.2	29	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	102/3299	6662540	1,12993	2201	4296	6497	6619116	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.305G>A	11.37:g.6662540C>T	ENSP00000299441:p.Arg102His		6619116	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215965	0.58452	2.27E-4	0.0	ENSG00000166341	ENST00000299441	T	0.39406	1.08	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.146090	0.31976	N	0.006768	T	0.34221	0.0890	L	0.46885	1.475	0.29983	N	0.817539	D	0.56746	0.977	B	0.43251	0.413	T	0.38134	-0.9675	10	0.30078	T	0.28	.	7.9456	0.29985	0.0:0.8243:0.0:0.1757	.	102	Q96JQ0	PCD16_HUMAN	H	102	ENSP00000299441:R102H	ENSP00000299441:R102H	R	-	2	0	DCHS1	6619116	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	3.246000	0.51414	2.536000	0.85505	0.643000	0.83706	CGT		0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6662540	C	T	6662540	3	4	387	1	0	0	0	0	1	0	0	0	4287	536	19	1	9671	1	DCHS1	11	6662540	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09		6662540	128343976	22	21129											
OR9Q1	219956	genome.wustl.edu	37	11	57947150	57947150	+	Silent	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr11:57947150C>T	ENST00000335397.3	+	3	550	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CTATCACTGTCCCCCAGATGC	0.498																																																0			11											174	151	159					11																	57947150		2201	4296	6497	57703726	SO:0001819	synonymous_variant	219956			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"GPCR / Class A : Olfactory receptors"	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.234C>T	11.37:g.57947150C>T			57703726	Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	CCDS31543.1																																																																																				0.498	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		T	57947150	C	T	57947150	2	4	387	1	0	0	0	0	0	0	0	1	11255	842	30	2		2	OR9Q1	11	57947150	Silent	SNP	C	TCGA-36-2537-01A-01D-1526-09	51284610	57947150	77059366	23	21130											
GSC	145258	genome.wustl.edu	37	14	95236245	95236245	+	Silent	SNP	C	C	T	rs191352872	byFrequency	TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr14:95236245C>T	ENST00000238558.3	-	1	317	c.108G>A	c.(106-108)ccG>ccA	p.P36P		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	36					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CGTGCAGGGCCGGGAAGACGA	0.746													C|||	87	0.0173722	0.0514	0.013	5008	,	,		9647	0		0.0089	False		,,,				2504	0.001				Pancreas(105;2165 2186 4892 18008)											0			14											2	3	2					14																	95236245		1405	2884	4289	94305998	SO:0001819	synonymous_variant	145258				CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"Homeoboxes / PRD class"	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.108G>A	14.37:g.95236245C>T			94305998	Q86YR1	Silent	SNP	ENST00000238558.3	37	CCDS9930.1																																																																																				0.746	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1			T	95236245	C	T	95236245	2	4	387	1	0	0	0	0	0	0	0	1	6814	639	23	1		1	GSC	14	95236245	Silent	SNP	C	TCGA-36-2537-01A-01D-1526-09		95236245	12113295	24	21131											
CAPN3	825	genome.wustl.edu	37	15	42681172	42681172	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr15:42681172G>A	ENST00000397163.3	+	5	898	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	CAPN3_ENST00000356316.3_Missense_Mutation_p.A140T|CAPN3_ENST00000318023.7_Missense_Mutation_p.A227T|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.A227T|CAPN3_ENST00000349748.3_Missense_Mutation_p.A227T	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	227	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CACCACAGAGGCCATGGAGGA	0.502																																																0			15											119	116	117					15																	42681172		2203	4299	6502	40468464	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.679G>A	15.37:g.42681172G>A	ENSP00000380349:p.Ala227Thr		40468464	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	36	5.813434	0.96975	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75	5.41	5.41	0.78517	Peptidase C2, calpain, catalytic domain (3);	0.067550	0.64402	U	0.000019	D	0.99099	0.9690	M	0.93241	3.395	0.80722	D	1	D;D;P;P;D;D	0.59357	0.983;0.966;0.822;0.891;0.966;0.985	P;D;P;P;P;D	0.72338	0.905;0.923;0.67;0.72;0.908;0.977	D	0.99285	1.0897	10	0.87932	D	0	.	19.398	0.94614	0.0:0.0:1.0:0.0	.	140;140;227;227;227;140	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	T	140;227;227;227;227	ENSP00000348667:A140T;ENSP00000380349:A227T;ENSP00000350181:A227T;ENSP00000183936:A227T;ENSP00000326281:A227T	ENSP00000326281:A227T	A	+	1	0	CAPN3	40468464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.528000	0.98046	2.826000	0.97356	0.561000	0.74099	GCC		0.502	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			A	42681172	G	A	42681172	3	1	387	1	0	0	0	0	1	0	0	0	2628	1203	42	2	749	2	CAPN3	15	42681172	Missense_Mutation	SNP	G	TCGA-36-2537-01A-01D-1526-09		42681172	59850220	25	21132											
NEDD4	4734	genome.wustl.edu	37	15	56130801	56130801	+	Splice_Site	SNP	T	T	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr15:56130801T>C	ENST00000508342.1	-	18	3589	c.3290A>G	c.(3289-3291)gAt>gGt	p.D1097G	NEDD4_ENST00000338963.2_Splice_Site_p.D1025G|NEDD4_ENST00000435532.3_Splice_Site_p.D678G|NEDD4_ENST00000506154.1_Splice_Site_p.D1081G	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1097	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATATTCACTATCCTAGATGGG	0.323																																																0			15											59	60	59					15																	56130801		2193	4290	6483	53918093	SO:0001630	splice_region_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3289-1A>G	15.37:g.56130801T>C			53918093	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.355639|4.355639	0.82243|0.82243	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.23|.	5.69|5.69	5.69|5.69	0.88448|0.88448	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91526|0.91526	0.7324|0.7324	H|H	0.99719|0.99719	4.725|4.725	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.998;0.998;0.993|.	D|D	0.95129|0.95129	0.8253|0.8253	10|5	0.87932|.	D|.	0|.	.|.	15.1292|15.1292	0.72507|0.72507	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1081;678;1097;1025|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	G|V	1097;678;1025;1081|688	ENSP00000424827:D1097G;ENSP00000410613:D678G;ENSP00000345530:D1025G;ENSP00000422705:D1081G|.	ENSP00000345530:D1025G|.	D|I	-|-	2|1	0|0	NEDD4|NEDD4	53918093|53918093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.694000|7.694000	0.84235|0.84235	2.160000|2.160000	0.67779|0.67779	0.528000|0.528000	0.53228|0.53228	GAT|ATA		0.323	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	Missense_Mutation	C	56130801	T	C	56130801	5	2	387	1	0	0	0	0	0	0	1	0	10310	1449	50	4	701	4	NEDD4	15	56130801	Splice_Site	SNP	T	TCGA-36-2537-01A-01D-1526-09	13449629	56130801	46400591	26	21133											
TNRC6A	27327	genome.wustl.edu	37	16	24817560	24817560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr16:24817560C>T	ENST00000395799.3	+	16	4414	c.4285C>T	c.(4285-4287)Cag>Tag	p.Q1429*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q1380*|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1429					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGCGCAGAGTCAGAGAAGCGT	0.502																																																0			16											77	66	70					16																	24817560		2197	4300	6497	24725061	SO:0001587	stop_gained	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4285C>T	16.37:g.24817560C>T	ENSP00000379144:p.Gln1429*		24725061	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.138102|12.138102	0.99639|0.99639	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799|ENST00000450465	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.121108|.	0.56097|.	D|.	0.000025|.	.|T	.|0.72835	.|0.3510	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63834	.|-0.6547	.|5	0.42905|0.24483	T|T	0.14|0.36	-5.5235|-5.5235	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1380;1429|319	.|.	ENSP00000326900:Q1380X|ENSP00000404278:S319L	Q|S	+|+	1|2	0|0	TNRC6A|TNRC6A	24725061|24725061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.791000|6.791000	0.75120|0.75120	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.502	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		T	24817560	C	T	24817560	4	4	387	1	0	0	0	0	0	1	0	0	16340	827	29	2	4347	2	TNRC6A	16	24817560	Nonsense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09		24817560	65537193	27	21134											
GPR114	221188	genome.wustl.edu	37	16	57601422	57601422	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr16:57601422C>G	ENST00000340339.4	+	8	1263	c.740C>G	c.(739-741)cCt>cGt	p.P247R	GPR114_ENST00000349457.3_Missense_Mutation_p.P247R|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	247					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TTGCTGGCACCTCTTACGTAC	0.602																																																0			16											99	78	85					16																	57601422		2198	4300	6498	56158923	SO:0001583	missense	221188			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.740C>G	16.37:g.57601422C>G	ENSP00000342981:p.Pro247Arg		56158923	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112903	0.20795	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.31510	1.49;1.49	3.98	3.98	0.46160	.	0.000000	0.42294	U	0.000725	T	0.52435	0.1734	M	0.77103	2.36	0.27749	N	0.944204	D;D	0.89917	0.997;1.0	D;D	0.85130	0.949;0.997	T	0.46830	-0.9163	10	0.59425	D	0.04	.	9.1796	0.37134	0.2168:0.7832:0.0:0.0	.	247;247	B4E148;Q8IZF4	.;GP114_HUMAN	R	247	ENSP00000342981:P247R;ENSP00000290823:P247R	ENSP00000342981:P247R	P	+	2	0	GPR114	56158923	0.155000	0.22806	0.921000	0.36526	0.352000	0.29268	2.742000	0.47434	1.766000	0.52107	0.306000	0.20318	CCT		0.602	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		G	57601422	C	G	57601422	3	3	387	1	0	0	0	0	1	0	0	0	6631	681	24	3	766	3	GPR114	16	57601422	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09	32783862	57601422	32753331	28	21135											
MVD	4597	genome.wustl.edu	37	16	88722100	88722100	+	Silent	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr16:88722100G>A	ENST00000301012.3	-	6	671	c.642C>T	c.(640-642)ggC>ggT	p.G214G	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	214					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGGCCCGCATGCCCACGGTAC	0.692																																																0			16											36	29	32					16																	88722100		2170	4249	6419	87249601	SO:0001819	synonymous_variant	4597			U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.642C>T	16.37:g.88722100G>A			87249601	Q53Y65	Silent	SNP	ENST00000301012.3	37	CCDS10968.1																																																																																				0.692	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		A	88722100	G	A	88722100	2	1	387	1	0	0	0	0	0	0	0	1	9994	1306	46	2		2	MVD	16	88722100	Silent	SNP	G	TCGA-36-2537-01A-01D-1526-09	31120678	88722100	1632653	29	21136											
TP53	7157	genome.wustl.edu	37	17	7578517	7578517	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr17:7578517G>A	ENST00000269305.4	-	5	602	c.413C>T	c.(412-414)gCc>gTc	p.A138V	TP53_ENST00000413465.2_Missense_Mutation_p.A138V|TP53_ENST00000445888.2_Missense_Mutation_p.A138V|TP53_ENST00000420246.2_Missense_Mutation_p.A138V|TP53_ENST00000455263.2_Missense_Mutation_p.A138V|TP53_ENST00000359597.4_Missense_Mutation_p.A138V|TP53_ENST00000574684.1_5'Flank	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	138	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.A138V(20)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.V73fs*9(1)|p.K132_A138delKMFCQLA(1)|p.A138_V143delAKTCPV(1)|p.A6_P10delAKTCP(1)|p.C3fs*9(1)|p.A138del(1)|p.C42fs*9(1)|p.A6V(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.A45V(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)	GCAGGTCTTGGCCAGTTGGCA	0.567		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"	54	Substitution - Missense(22)|Deletion - In frame(13)|Deletion - Frameshift(10)|Whole gene deletion(8)|Complex - deletion inframe(1)	large_intestine(9)|ovary(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(6)|breast(6)|stomach(4)|lung(4)|bone(4)|central_nervous_system(3)|soft_tissue(1)|endometrium(1)|skin(1)|oesophagus(1)|liver(1)	17											54	54	54					17																	7578517		2203	4300	6503	7519242	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.413C>T	17.37:g.7578517G>A	ENSP00000269305:p.Ala138Val		7519242	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	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067507	0.76301	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	5.48	0.80851	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	0.99819	0.9920	M	0.70595	2.14	0.58432	D	0.999998	P;P;D;P;D;D;D	0.89917	0.821;0.952;0.981;0.886;0.984;0.98;1.0	P;P;P;B;P;P;D	0.91635	0.528;0.716;0.646;0.328;0.813;0.771;0.999	D	0.96765	0.9564	10	0.87932	D	0	-15.6629	17.2272	0.86973	0.0:0.0:1.0:0.0	.	99;138;138;45;138;138;138	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	138;138;138;138;138;138;127;45;6;45;6;138	ENSP00000410739:A138V;ENSP00000352610:A138V;ENSP00000269305:A138V;ENSP00000398846:A138V;ENSP00000391127:A138V;ENSP00000391478:A138V;ENSP00000425104:A6V;ENSP00000423862:A45V;ENSP00000424104:A138V	ENSP00000269305:A138V	A	-	2	0	TP53	7519242	1.000000	0.71417	0.989000	0.46669	0.377000	0.30045	5.601000	0.67606	2.733000	0.93635	0.655000	0.94253	GCC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578517	G	A	7578517	3	1	387	1	0	0	0	0	1	0	0	0	16381	1203	42	2	885	2	TP53	17	7578517	Missense_Mutation	SNP	G	TCGA-36-2537-01A-01D-1526-09		7578517	73616693	30	21137											
KCNJ12	3768	genome.wustl.edu	37	17	21319402	21319402	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr17:21319402G>T	ENST00000583088.1	+	3	1643	c.748G>T	c.(748-750)Gac>Tac	p.D250Y	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D250Y	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	250					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGACCAGATCGACATCGATGT	0.612										Prostate(3;0.18)																																						0			17											129	93	105					17																	21319402		2203	4300	6503	21259995	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.748G>T	17.37:g.21319402G>T	ENSP00000463778:p.Asp250Tyr		21259995	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387969	0.82902	.	.	ENSG00000184185	ENST00000331718	D	0.95103	-3.61	5.43	5.43	0.79202	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98024	0.9349	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98869	1.0765	10	0.87932	D	0	.	19.2333	0.93849	0.0:0.0:1.0:0.0	.	250	Q14500	IRK12_HUMAN	Y	250	ENSP00000328150:D250Y	ENSP00000328150:D250Y	D	+	1	0	KCNJ12	21259995	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.690000	0.98676	2.554000	0.86153	0.655000	0.94253	GAC		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319402	G	T	21319402	3	4	387	1	0	0	0	0	1	0	0	0	8046	1058	37	3	750	3	KCNJ12	17	21319402	Missense_Mutation	SNP	G	TCGA-36-2537-01A-01D-1526-09	13740885	21319402	59875808	31	21138											
EFTUD2	9343	genome.wustl.edu	37	17	42930905	42930905	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr17:42930905C>A	ENST00000426333.2	-	24	2743	c.2446G>T	c.(2446-2448)Gtc>Ttc	p.V816F	EFTUD2_ENST00000591382.1_Missense_Mutation_p.V816F|EFTUD2_ENST00000402521.3_Missense_Mutation_p.V781F|EFTUD2_ENST00000592576.1_Missense_Mutation_p.V806F	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	816					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCAGAGTAGACGACTCTCCTG	0.582																																					Ovarian(10;65 485 10258 29980 30707)											0			17											56	53	54					17																	42930905		2203	4300	6503	40286431	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2446G>T	17.37:g.42930905C>A	ENSP00000392094:p.Val816Phe		40286431	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423178	0.62733	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.26518	1.73;1.73	4.68	4.68	0.58851	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	N	0.16708	0.43	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.58577	0.841;0.841	T	0.15350	-1.0440	10	0.49607	T	0.09	-27.1046	17.7902	0.88550	0.0:1.0:0.0:0.0	.	806;816	B4DMC0;Q15029	.;U5S1_HUMAN	F	816;806;781	ENSP00000392094:V816F;ENSP00000385873:V781F	ENSP00000262414:V806F	V	-	1	0	EFTUD2	40286431	1.000000	0.71417	0.942000	0.38095	0.529000	0.34654	7.617000	0.83032	2.426000	0.82243	0.563000	0.77884	GTC		0.582	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		A	42930905	C	A	42930905	3	1	387	1	0	0	0	0	1	0	0	0	4961	536	19	3	492	3	EFTUD2	17	42930905	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09	21611503	42930905	38264305	32	21139											
TECR	9524	genome.wustl.edu	37	19	14674819	14674819	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr19:14674819C>T	ENST00000215567.5	+	6	430	c.293C>T	c.(292-294)cCc>cTc	p.P98L	TECR_ENST00000436007.2_Missense_Mutation_p.P113L|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	98					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						TACGCGGGGCCCCTTTTCATC	0.547																																																0			19											177	188	184					19																	14674819		2203	4300	6503	14535819	SO:0001583	missense	9524			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"glycoprotein, synaptic 2"	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.293C>T	19.37:g.14674819C>T	ENSP00000215567:p.Pro98Leu		14535819	B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218598	0.79464	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.52526	0.72;0.66	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	H	0.94925	3.6	0.80722	D	1	D;D;D	0.65815	0.991;0.991;0.995	D;D;D	0.63957	0.92;0.92;0.92	D	0.83586	0.0120	10	0.87932	D	0	-23.9749	15.8423	0.78857	0.0:1.0:0.0:0.0	.	98;113;98	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	L	98;113	ENSP00000215567:P98L;ENSP00000397206:P113L	ENSP00000215567:P98L	P	+	2	0	TECR	14535819	1.000000	0.71417	0.999000	0.59377	0.738000	0.42128	5.364000	0.66110	2.335000	0.79485	0.455000	0.32223	CCC		0.547	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		T	14674819	C	T	14674819	3	4	387	1	0	0	0	0	1	0	0	0	15745	623	22	2	315	2	TECR	19	14674819	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09		14674819	44454164	33	21140											
LSR	51599	genome.wustl.edu	37	19	35757275	35757275	+	Silent	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr19:35757275C>T	ENST00000361790.3	+	6	1095	c.936C>T	c.(934-936)ggC>ggT	p.G312G	USF2_ENST00000222305.3_5'Flank|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000347609.4_Silent_p.G275G|LSR_ENST00000360798.3_Silent_p.G244G|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000427250.1_Silent_p.G156G|LSR_ENST00000354900.3_Silent_p.G293G|LSR_ENST00000602122.1_Silent_p.G293G	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	312					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)		p.G312G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATGCCGCCGGCAAAGCAGCCA	0.617																																																1	Substitution - coding silent(1)	lung(1)	19											86	86	86					19																	35757275		2203	4300	6503	40449115	SO:0001819	synonymous_variant	51599			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.936C>T	19.37:g.35757275C>T			40449115	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	CCDS12450.1																																																																																				0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		T	35757275	C	T	35757275	2	4	387	1	0	0	0	0	0	0	0	1	9064	697	25	2		2	LSR	19	35757275	Silent	SNP	C	TCGA-36-2537-01A-01D-1526-09	21082456	35757275	23371708	34	21141											
CEACAM5	1048	genome.wustl.edu	37	19	42222192	42222192	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr19:42222192G>T	ENST00000221992.6	+	6	1497	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	CEACAM5_ENST00000405816.1_Missense_Mutation_p.E461D|CEACAM5_ENST00000398599.4_Missense_Mutation_p.E460D|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	461	Ig-like 5.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACACACAAGAGCTCTTTATCT	0.517																																																0			19											130	104	113					19																	42222192		2203	4300	6503	46914032	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1383G>T	19.37:g.42222192G>T	ENSP00000221992:p.Glu461Asp		46914032	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.09|12.09	1.832211|1.832211	0.32421|0.32421	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.12147	.|2.71;2.71	2.39|2.39	0.0653|0.0653	0.14356|0.14356	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.22513|0.22513	0.0543|0.0543	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	.|P;P	.|0.40180	.|0.705;0.476	.|P;B	.|0.57846	.|0.828;0.292	T|T	0.23797|0.23797	-1.0178|-1.0178	5|9	.|0.49607	.|T	.|0.09	.|.	3.5293|3.5293	0.07770|0.07770	0.1638:0.2672:0.569:0.0|0.1638:0.2672:0.569:0.0	.|.	.|461;461	.|P06731;Q53G30	.|CEAM5_HUMAN;.	S|D	457|461;461;179	.|ENSP00000221992:E461D;ENSP00000385072:E461D	.|ENSP00000221992:E461D	A|E	+|+	1|3	0|2	CEACAM5|CEACAM5	46914032|46914032	0.007000|0.007000	0.16637|0.16637	0.353000|0.353000	0.25747|0.25747	0.043000|0.043000	0.13939|0.13939	0.157000|0.157000	0.16402|0.16402	0.109000|0.109000	0.17891|0.17891	-0.417000|-0.417000	0.06048|0.06048	GCT|GAG		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		T	42222192	G	T	42222192	3	4	387	1	0	0	0	0	1	0	0	0	3195	962	34	3	1405	3	CEACAM5	19	42222192	Missense_Mutation	SNP	G	TCGA-36-2537-01A-01D-1526-09	6464917	42222192	16906791	35	21142											
ZNF264	9422	genome.wustl.edu	37	19	57705353	57705353	+	Silent	SNP	G	G	C			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr19:57705353G>C	ENST00000263095.6	+	2	558	c.144G>C	c.(142-144)ggG>ggC	p.G48G	ZNF264_ENST00000600531.1_Silent_p.G48G|ZNF264_ENST00000536056.1_Silent_p.G48G|ZNF264_ENST00000599653.1_Silent_p.G48G	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AAAACTGTGGGCTCCTGGTGT	0.577																																																0			19											117	119	118					19																	57705353		2203	4300	6503	62397165	SO:0001819	synonymous_variant	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.144G>C	19.37:g.57705353G>C			62397165	A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	CCDS33127.1																																																																																				0.577	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			C	57705353	G	C	57705353	2	2	387	1	0	0	0	0	0	0	0	1	17804	1190	42	3		3	ZNF264	19	57705353	Silent	SNP	G	TCGA-36-2537-01A-01D-1526-09	15483161	57705353	1423630	36	21143											
PLCB4	5332	genome.wustl.edu	37	20	9376218	9376218	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr20:9376218C>T	ENST00000378493.1	+	16	1478	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	PLCB4_ENST00000378501.2_Missense_Mutation_p.S488F|PLCB4_ENST00000414679.2_Missense_Mutation_p.S488F|PLCB4_ENST00000378473.3_Missense_Mutation_p.S488F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.S488F|PLCB4_ENST00000334005.3_Missense_Mutation_p.S488F			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	488					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAATCTGCCTCCCCAGCAAAC	0.393																																																0			20											118	118	118					20																	9376218		2203	4300	6503	9324218	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1463C>T	20.37:g.9376218C>T	ENSP00000367754:p.Ser488Phe		9324218	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858687	0.32791	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.24350	1.99;2.04;1.99;1.99;1.99;1.86	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.962314	0.08714	N	0.904565	T	0.30386	0.0763	N	0.14661	0.345	0.29216	N	0.874264	P;B;B;B	0.36110	0.537;0.073;0.021;0.025	P;B;B;B	0.44732	0.459;0.037;0.036;0.039	T	0.49634	-0.8919	10	0.66056	D	0.02	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	488;335;488;488	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	F	488;488;488;488;488;324	ENSP00000334105:S488F;ENSP00000367734:S488F;ENSP00000278655:S488F;ENSP00000367754:S488F;ENSP00000367762:S488F;ENSP00000390616:S324F	ENSP00000278655:S488F	S	+	2	0	PLCB4	9324218	0.950000	0.32346	0.984000	0.44739	0.091000	0.18340	4.701000	0.61810	2.756000	0.94617	0.561000	0.74099	TCC		0.393	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			T	9376218	C	T	9376218	3	4	387	1	0	0	0	0	1	0	0	0	12030	855	30	2	1525	2	PLCB4	20	9376218	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09		9376218	53649302	37	21144											
NINL	22981	genome.wustl.edu	37	20	25456923	25456923	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr20:25456923C>T	ENST00000278886.6	-	17	3077	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1002					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGGGCGCCCTCGGCCCGGGCC	0.677																																																0			20											44	49	47					20																	25456923		2203	4300	6503	25404923	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3004G>A	20.37:g.25456923C>T	ENSP00000278886:p.Glu1002Lys		25404923	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	2.796	-0.250160	0.05867	.	.	ENSG00000101004	ENST00000278886	T	0.05649	3.41	3.55	-6.64	0.01801	.	11.902300	0.00166	N	0.000003	T	0.02767	0.0083	N	0.12182	0.205	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.41574	-0.9501	10	0.02654	T	1	2.1223	6.1186	0.20139	0.1432:0.2349:0.0:0.6219	.	1002	Q9Y2I6	NINL_HUMAN	K	1002	ENSP00000278886:E1002K	ENSP00000278886:E1002K	E	-	1	0	NINL	25404923	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.615000	0.05597	-0.960000	0.03613	0.561000	0.74099	GAG		0.677	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		T	25456923	C	T	25456923	3	4	387	1	0	0	0	0	1	0	0	0	10420	893	31	1	1176	1	NINL	20	25456923	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09	16080705	25456923	37568597	38	21145											
TNNC2	7125	genome.wustl.edu	37	20	44451999	44451999	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr20:44451999C>A	ENST00000372555.3	-	6	563	c.471G>T	c.(469-471)gaG>gaT	p.E157D	TNNC2_ENST00000372557.1_Missense_Mutation_p.E142D	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	157	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	ACTGCACGCCCTCCATCATCT	0.662																																																0			20											75	49	58					20																	44451999		2203	4299	6502	43885406	SO:0001583	missense	7125				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"EF-hand domain containing"	11944	protein-coding gene	gene with protein product		191039	"troponin C2, fast"			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.471G>T	20.37:g.44451999C>A	ENSP00000361636:p.Glu157Asp		43885406	Q6FH92	Missense_Mutation	SNP	ENST00000372555.3	37	CCDS13375.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357475	0.61293	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.74526	-0.85;-0.76	4.92	1.79	0.24919	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	N	0.21448	0.665	0.51482	D	0.99992	B	0.11235	0.004	B	0.10450	0.005	T	0.54589	-0.8271	10	0.72032	D	0.01	-22.8217	6.1978	0.20559	0.0:0.5419:0.0:0.4581	.	157	P02585	TNNC2_HUMAN	D	142;157	ENSP00000361638:E142D;ENSP00000361636:E157D	ENSP00000361636:E157D	E	-	3	2	TNNC2	43885406	0.969000	0.33509	0.999000	0.59377	0.923000	0.55619	0.324000	0.19610	1.005000	0.39183	0.491000	0.48974	GAG		0.662	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	NM_003279		A	44451999	C	A	44451999	3	1	387	1	0	0	0	0	1	0	0	0	16325	680	24	3	15	3	TNNC2	20	44451999	Missense_Mutation	SNP	C	TCGA-36-2537-01A-01D-1526-09	18995076	44451999	18573521	39	21146											
COL6A2	1292	genome.wustl.edu	37	21	47549213	47549213	+	Intron	SNP	A	A	T			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr21:47549213A>T	ENST00000300527.4	+	28	2565				COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000357838.4_Silent_p.L855L|COL6A2_ENST00000397763.1_Silent_p.L855L|COL6A2_ENST00000409416.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AACAGTTGCTAAACGCCACGG	0.697																																																0			21											90	87	88					21																	47549213		2203	4300	6503	46373641	SO:0001627	intron_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2462-2655A>T	21.37:g.47549213A>T			46373641	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	CCDS13728.1																																																																																				0.697	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47549213	A	T	47549213	1	4	387	0	1	0	0	0	0	0	0	0	3700	349	13	5		5	COL6A2	21	47549213	Intron	SNP	A	TCGA-36-2537-01A-01D-1526-09		47549213	580682	40	21147											
KDELR3	11015	genome.wustl.edu	37	22	38877312	38877312	+	Silent	SNP	T	T	A	rs148490231		TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chr22:38877312T>A	ENST00000216014.4	+	4	619	c.447T>A	c.(445-447)acT>acA	p.T149T	KDELR3_ENST00000409006.3_Silent_p.T149T|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCATAACTACTCACTACCTGT	0.493																																					Ovarian(11;103 529 24120 28493 32980)											0			22											150	143	145					22																	38877312		2203	4300	6503	37207258	SO:0001819	synonymous_variant	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.447T>A	22.37:g.38877312T>A			37207258	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP	ENST00000216014.4	37	CCDS13972.1																																																																																				0.493	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			A	38877312	T	A	38877312	2	1	387	1	0	0	0	0	0	0	0	1	8121	1538	54	5		5	KDELR3	22	38877312	Silent	SNP	T	TCGA-36-2537-01A-01D-1526-09		38877312	12427254	41	21148											
ARMCX6	54470	genome.wustl.edu	37	X	100871176	100871176	+	Silent	SNP	C	C	G			TCGA-36-2537-01A-01D-1526-09	TCGA-36-2537-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	dabd603f-bcd1-4976-a833-eec6a04af2ca	31ced69f-393b-451f-b853-95f7316fbbc7	g.chrX:100871176C>G	ENST00000361910.4	-	3	779	c.435G>C	c.(433-435)gcG>gcC	p.A145A	ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Silent_p.A145A|ARMCX6_ENST00000539247.1_Silent_p.A145A	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	145						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						ATGGAAAGCCCGCATCCTTGG	0.483																																																0			X											35	39	37					X																	100871176		2194	4289	6483	100757832	SO:0001819	synonymous_variant	54470			BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"Armadillo repeat containing"	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.435G>C	X.37:g.100871176C>G			100757832	Q9NWJ3	Silent	SNP	ENST00000361910.4	37	CCDS14488.1																																																																																				0.483	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1	NM_019007		G	100871176	C	G	100871176	2	3	387	1	0	0	0	0	0	0	0	1	963	639	23	3		3	ARMCX6	23	100871176	Silent	SNP	C	TCGA-36-2537-01A-01D-1526-09		100871176	54399384	42	21149											
SPRR1B	6699	genome.wustl.edu	37	1	153004916	153004916	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr1:153004916C>A	ENST00000307098.4	+	2	160	c.95C>A	c.(94-96)cCa>cAa	p.P32Q	SPRR1B_ENST00000392661.3_Missense_Mutation_p.P32Q	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	32	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCAGGAACCATGCATCCCC	0.632																																																0			1											154	151	152					1																	153004916		2203	4300	6503	151271540	SO:0001583	missense	6699			M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"cornifin"	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.95C>A	1.37:g.153004916C>A	ENSP00000306461:p.Pro32Gln		151271540	B2R5H7|P22529|P22530|Q5T524	Missense_Mutation	SNP	ENST00000307098.4	37	CCDS30863.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608029	0.28623	.	.	ENSG00000169469	ENST00000307098;ENST00000392661	T;T	0.11169	2.8;2.8	4.56	1.32	0.21799	.	.	.	.	.	T	0.02571	0.0078	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.43360	-0.9396	8	0.87932	D	0	0.0447	4.9972	0.14245	0.3679:0.5303:0.0:0.1019	.	32	P22528	SPR1B_HUMAN	Q	32	ENSP00000306461:P32Q;ENSP00000376429:P32Q	ENSP00000306461:P32Q	P	+	2	0	SPRR1B	151271540	0.490000	0.26012	0.002000	0.10522	0.273000	0.26683	-0.754000	0.04787	0.454000	0.26884	0.655000	0.94253	CCA		0.632	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		A	153004916	C	A	153004916	3	1	388	1	0	0	0	0	1	0	0	0	15098	594	21	3	97	3	SPRR1B	1	153004916	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09		153004916	96245705	1	21150											
NCF2	4688	genome.wustl.edu	37	1	183539950	183539950	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr1:183539950C>T	ENST00000367535.3	-	6	885	c.634G>A	c.(634-636)Gac>Aac	p.D212N	NCF2_ENST00000418089.1_Missense_Mutation_p.D131N|NCF2_ENST00000367536.1_Missense_Mutation_p.D212N|NCF2_ENST00000413720.1_Missense_Mutation_p.D167N	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	212					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GAGAAACTGTCTTGATCCACC	0.517																																																0			1											166	137	147					1																	183539950		2203	4300	6503	181806573	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.634G>A	1.37:g.183539950C>T	ENSP00000356505:p.Asp212Asn		181806573	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189509	0.94923	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.73469	-0.75;-0.43;-0.39;-0.75	5.19	5.19	0.71726	.	0.091349	0.64402	D	0.000001	D	0.83225	0.5208	L	0.50993	1.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.992	T	0.81920	-0.0712	10	0.37606	T	0.19	2.5473	18.7499	0.91810	0.0:1.0:0.0:0.0	.	131;167;212	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	N	212;240;167;131;212	ENSP00000356506:D212N;ENSP00000399294:D167N;ENSP00000407217:D131N;ENSP00000356505:D212N	ENSP00000356505:D212N	D	-	1	0	NCF2	181806573	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.588000	0.74076	2.411000	0.81874	0.655000	0.94253	GAC		0.517	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		T	183539950	C	T	183539950	3	4	388	1	0	0	0	0	1	0	0	0	10217	913	32	2	986	2	NCF2	1	183539950	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	30535034	183539950	65710671	2	21151											
TOMM20	9804	genome.wustl.edu	37	1	235283208	235283208	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr1:235283208C>T	ENST00000366607.4	-	3	395	c.175G>A	c.(175-177)Gac>Aac	p.D59N	TOMM20_ENST00000467767.1_5'UTR	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	59					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCTTTAAGGTCAGGTAACTGG	0.328																																																0			1											44	44	44					1																	235283208		2201	4299	6500	233349831	SO:0001583	missense	9804				CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type II"	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.175G>A	1.37:g.235283208C>T	ENSP00000355566:p.Asp59Asn		233349831	A8K195|Q498B3|Q6IBT4	Missense_Mutation	SNP	ENST00000366607.4	37	CCDS1603.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803590	0.70682	.	.	ENSG00000173726	ENST00000366607	T	0.47177	0.85	6.03	6.03	0.97812	Mitochondrial outer membrane translocase complex, subunit Tom20 domain (2);	0.043561	0.85682	N	0.000000	T	0.55049	0.1896	M	0.66297	2.02	0.80722	D	1	P	0.35844	0.524	B	0.41466	0.358	T	0.45279	-0.9272	10	0.21014	T	0.42	-15.3785	20.5666	0.99351	0.0:1.0:0.0:0.0	.	59	Q15388	TOM20_HUMAN	N	59	ENSP00000355566:D59N	ENSP00000355566:D59N	D	-	1	0	TOMM20	233349831	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	6.087000	0.71362	2.854000	0.98071	0.655000	0.94253	GAC		0.328	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1	NM_014765		T	235283208	C	T	235283208	3	4	388	1	0	0	0	0	1	0	0	0	16354	826	29	2	274	2	TOMM20	1	235283208	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	51743258	235283208	13967413	3	21152											
OTOF	9381	genome.wustl.edu	37	2	26698896	26698896	+	Silent	SNP	C	C	T	rs111033424		TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr2:26698896C>T	ENST00000272371.2	-	24	3003	c.2877G>A	c.(2875-2877)gcG>gcA	p.A959A	OTOF_ENST00000339598.3_Silent_p.A212A|OTOF_ENST00000403946.3_Silent_p.A959A|OTOF_ENST00000338581.6_Silent_p.A212A|OTOF_ENST00000402415.3_Silent_p.A269A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	959	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCTGGAACGCCTGCTTCT	0.642																																					GBM(102;732 1451 20652 24062 31372)											0			2						C	,,,	1,4401	2.1+/-5.4	0,1,2200	42	39	40	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	636,2877,807,636	-3.8	0.6	2	dbSNP_132	40	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,,	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,,,	212/1231,959/1998,269/1308,212/1231	26698896	1,12997	2201	4298	6499	26552400	SO:0001819	synonymous_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2877G>A	2.37:g.26698896C>T			26552400	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																				0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26698896	C	T	26698896	2	4	388	1	0	0	0	0	0	0	0	1	11303	523	19	1		1	OTOF	2	26698896	Silent	SNP	C	TCGA-36-2538-01A-01D-1526-09		26698896	216500477	4	21153											
RAB11FIP5	26056	genome.wustl.edu	37	2	73316417	73316417	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr2:73316417C>A	ENST00000258098.6	-	2	698	c.458G>T	c.(457-459)gGc>gTc	p.G153V	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	153					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTCCTTCTTGCCTGGCTTGGA	0.592																																																0			2											258	244	248					2																	73316417		2203	4300	6503	73169925	SO:0001583	missense	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.458G>T	2.37:g.73316417C>A	ENSP00000258098:p.Gly153Val		73169925	O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507752	0.85282	.	.	ENSG00000135631	ENST00000258098	T	0.72942	-0.7	4.6	4.6	0.57074	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86873	0.2037	10	0.87932	D	0	-23.9991	16.5264	0.84332	0.0:1.0:0.0:0.0	.	153;153	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	V	153	ENSP00000258098:G153V	ENSP00000258098:G153V	G	-	2	0	RAB11FIP5	73169925	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.627000	0.83176	2.570000	0.86706	0.561000	0.74099	GGC		0.592	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		A	73316417	C	A	73316417	3	1	388	1	0	0	0	0	1	0	0	0	12900	739	26	3	1519	3	RAB11FIP5	2	73316417	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	46617521	73316417	169882956	5	21154											
MGAT4A	11320	genome.wustl.edu	37	2	99256314	99256314	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr2:99256314C>A	ENST00000264968.3	-	11	1642	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	MGAT4A_ENST00000409391.1_Missense_Mutation_p.D427Y|MGAT4A_ENST00000393487.1_Missense_Mutation_p.D427Y|MGAT4A_ENST00000414521.2_Missense_Mutation_p.D299Y			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	427					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AAGATGTAGTCTCCAGCTATC	0.393																																																0			2											94	88	90					2																	99256314		2203	4300	6503	98622746	SO:0001583	missense	11320			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1279G>T	2.37:g.99256314C>A	ENSP00000264968:p.Asp427Tyr		98622746	B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631508	0.87660	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.37058	1.22;1.3;1.22;1.22	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	M	0.87097	2.86	0.80722	D	1	D;D	0.69078	0.997;0.986	P;P	0.57371	0.819;0.733	T	0.68930	-0.5279	10	0.72032	D	0.01	-4.1317	18.9218	0.92528	0.0:1.0:0.0:0.0	.	299;427	E9PEN2;Q9UM21	.;MGT4A_HUMAN	Y	427;299;427;427	ENSP00000377127:D427Y;ENSP00000404889:D299Y;ENSP00000264968:D427Y;ENSP00000386841:D427Y	ENSP00000264968:D427Y	D	-	1	0	MGAT4A	98622746	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.735000	0.84939	2.717000	0.92951	0.563000	0.77884	GAC		0.393	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		A	99256314	C	A	99256314	3	1	388	1	0	0	0	0	1	0	0	0	9545	913	32	3	427	3	MGAT4A	2	99256314	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	25939897	99256314	143943059	6	21155											
ERCC3	2071	genome.wustl.edu	37	2	128018872	128018872	+	Missense_Mutation	SNP	C	C	T	rs587778275		TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr2:128018872C>T	ENST00000285398.2	-	13	2090	c.1996G>A	c.(1996-1998)Gac>Aac	p.D666N	ERCC3_ENST00000493187.2_Missense_Mutation_p.D602N	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	666	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCTGTGTGTCCTGGGATACC	0.423			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	0			2											194	165	175					2																	128018872		2203	4300	6503	127735342	SO:0001583	missense	2071	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1996G>A	2.37:g.128018872C>T	ENSP00000285398:p.Asp666Asn		127735342	Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504244	0.96371	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.75821	-0.97;-0.97	4.45	4.45	0.53987	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	P	0.58013	0.831	D	0.89193	0.3552	10	0.87932	D	0	-30.9709	17.6458	0.88148	0.0:1.0:0.0:0.0	.	666	P19447	ERCC3_HUMAN	N	666;602	ENSP00000285398:D666N;ENSP00000444796:D602N	ENSP00000285398:D666N	D	-	1	0	ERCC3	127735342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.298000	0.78815	2.455000	0.83008	0.563000	0.77884	GAC		0.423	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		T	128018872	C	T	128018872	3	4	388	1	0	0	0	0	1	0	0	0	5214	855	30	2	364	2	ERCC3	2	128018872	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	28762558	128018872	115180501	7	21156											
ACVR1C	130399	genome.wustl.edu	37	2	158399269	158399269	+	Nonsense_Mutation	SNP	G	G	C			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr2:158399269G>C	ENST00000243349.8	-	6	1409	c.1049C>G	c.(1048-1050)tCa>tGa	p.S350*	ACVR1C_ENST00000409680.3_Nonsense_Mutation_p.S300*|ACVR1C_ENST00000348328.5_Nonsense_Mutation_p.S193*|ACVR1C_ENST00000335450.7_Nonsense_Mutation_p.S270*	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GTTCAGTATTGAATCATGCTT	0.418																																																0			2											236	217	224					2																	158399269		2203	4300	6503	158107515	SO:0001587	stop_gained	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1049C>G	2.37:g.158399269G>C	ENSP00000243349:p.Ser350*		158107515		Nonsense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	37	6.477894	0.97598	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	.	.	.	5.77	5.77	0.91146	.	0.000000	0.44483	D	0.000453	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9422	0.97170	0.0:0.0:1.0:0.0	.	.	.	.	X	350;300;193;270	.	ENSP00000243349:S350X	S	-	2	0	ACVR1C	158107515	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	8.004000	0.88535	2.890000	0.99128	0.650000	0.86243	TCA		0.418	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		C	158399269	G	C	158399269	4	2	388	1	0	0	0	0	0	1	0	0	222	1294	45	3	448	3	ACVR1C	2	158399269	Nonsense_Mutation	SNP	G	TCGA-36-2538-01A-01D-1526-09	30380397	158399269	84800104	8	21157											
ST3GAL6	10402	genome.wustl.edu	37	3	98489735	98489735	+	Silent	SNP	G	G	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr3:98489735G>T	ENST00000483910.1	+	3	391	c.102G>T	c.(100-102)gtG>gtT	p.V34V	ST3GAL6_ENST00000468553.1_Silent_p.V34V|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000394162.1_Silent_p.V34V	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	34					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TGGCACCTGTGGAAATGAAAC	0.448																																																0			3											108	105	106					3																	98489735		2203	4300	6503	99972425	SO:0001819	synonymous_variant	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.102G>T	3.37:g.98489735G>T			99972425	B2RCH2|B3KMI1|D3DN39|F8W6U0	Silent	SNP	ENST00000483910.1	37	CCDS2933.1																																																																																				0.448	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		T	98489735	G	T	98489735	2	4	388	1	0	0	0	0	0	0	0	1	15221	1335	47	3		3	ST3GAL6	3	98489735	Silent	SNP	G	TCGA-36-2538-01A-01D-1526-09		98489735	99532695	9	21158											
WDR52	55779	genome.wustl.edu	37	3	113098286	113098286	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr3:113098286A>T	ENST00000295868.2	-	17	2327	c.2165T>A	c.(2164-2166)tTt>tAt	p.F722Y	WDR52_ENST00000393845.2_Missense_Mutation_p.F722Y|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ctcctcctGAAATTCTTTTTC	0.453																																																0			3											106	105	105					3																	113098286		2203	4300	6503	114580976	SO:0001583	missense	55779																														ENST00000295868.2:c.2165T>A	3.37:g.113098286A>T	ENSP00000295868:p.Phe722Tyr		114580976		Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.759445	0.00657	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.44482	2.83;0.92	5.42	1.49	0.22878	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.20251	0.0487	N	0.22421	0.69	0.09310	N	1	B	0.27068	0.167	B	0.25614	0.062	T	0.27872	-1.0061	9	0.02654	T	1	.	4.0442	0.09764	0.6717:0.131:0.0715:0.1257	.	722	Q96MT7	WDR52_HUMAN	Y	722	ENSP00000377428:F722Y;ENSP00000295868:F722Y	ENSP00000295868:F722Y	F	-	2	0	WDR52	114580976	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	0.128000	0.15810	0.479000	0.27511	-0.400000	0.06385	TTT		0.453	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			T	113098286	A	T	113098286	3	4	388	1	0	0	0	0	1	0	0	0	17304	14	1	5	3490	5	WDR52	3	113098286	Missense_Mutation	SNP	A	TCGA-36-2538-01A-01D-1526-09	14608551	113098286	84924144	10	21159											
QTRTD1	79691	genome.wustl.edu	37	3	113795662	113795662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr3:113795662C>T	ENST00000493014.1	+	3	369	c.301C>T	c.(301-303)Cga>Tga	p.R101*	QTRTD1_ENST00000479882.1_Nonsense_Mutation_p.R84*|QTRTD1_ENST00000485050.1_Nonsense_Mutation_p.R219*|QTRTD1_ENST00000281273.4_Nonsense_Mutation_p.R207*	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GAGGTCAGCACGAGAGACAGC	0.488																																																0			3											129	116	120					3																	113795662		2203	4300	6503	115278352	SO:0001587	stop_gained	79691			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.301C>T	3.37:g.113795662C>T	ENSP00000419169:p.Arg101*		115278352		Nonsense_Mutation	SNP	ENST00000493014.1	37	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040685	0.75732	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014;ENST00000482307	.	.	.	5.71	1.29	0.21616	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5791	7.8238	0.29303	0.3127:0.5347:0.0:0.1526	.	.	.	.	X	219;207;84;101;136	.	ENSP00000281273:R207X	R	+	1	2	QTRTD1	115278352	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	1.151000	0.31651	0.299000	0.22661	0.655000	0.94253	CGA		0.488	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		T	113795662	C	T	113795662	4	4	388	1	0	0	0	0	0	1	0	0	12889	528	19	1	637	1	QTRTD1	3	113795662	Nonsense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	697376	113795662	84226768	11	21160											
HES1	3280	genome.wustl.edu	37	3	193854818	193854818	+	Silent	SNP	G	G	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr3:193854818G>A	ENST00000232424.3	+	3	509	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TCCGGAACCTGCAGCGGGCGC	0.627																																																0			3											48	51	50					3																	193854818		2203	4300	6503	195337512	SO:0001819	synonymous_variant	3280			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.273G>A	3.37:g.193854818G>A			195337512	A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000232424.3	37	CCDS3305.1																																																																																				0.627	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1			A	193854818	G	A	193854818	2	1	388	1	0	0	0	0	0	0	0	1	7065	1306	46	2		2	HES1	3	193854818	Silent	SNP	G	TCGA-36-2538-01A-01D-1526-09	80059156	193854818	4167612	12	21161											
DCK	1633	genome.wustl.edu	37	4	71891559	71891559	+	Silent	SNP	G	G	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr4:71891559G>A	ENST00000286648.5	+	5	973	c.576G>A	c.(574-576)cgG>cgA	p.R192R	DCK_ENST00000504730.1_Intron|DCK_ENST00000504952.1_Silent_p.R192R	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	192					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TATATTTACGGGGAAGAAATG	0.358																																																0			4											109	119	115					4																	71891559		2203	4299	6502	72110423	SO:0001819	synonymous_variant	1633			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.576G>A	4.37:g.71891559G>A			72110423	B2R8V6|Q5TZY7|Q6FI11	Silent	SNP	ENST00000286648.5	37	CCDS3548.1																																																																																				0.358	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			A	71891559	G	A	71891559	2	1	388	1	0	0	0	0	0	0	0	1	4290	1219	43	2		2	DCK	4	71891559	Silent	SNP	G	TCGA-36-2538-01A-01D-1526-09		71891559	119262717	13	21162											
TAS2R1	50834	genome.wustl.edu	37	5	9629771	9629771	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr5:9629771A>T	ENST00000382492.2	-	1	692	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	125					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						CCATGGGACCAGCTTGGATAT	0.468																																																0			5											45	48	47					5																	9629771		2203	4300	6503	9682771	SO:0001583	missense	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.374T>A	5.37:g.9629771A>T	ENSP00000371932:p.Leu125Gln		9682771	Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689178	0.29962	.	.	ENSG00000169777	ENST00000382492	T	0.01005	5.45	5.43	3.04	0.35103	.	0.624616	0.14195	N	0.335114	T	0.04407	0.0121	M	0.81942	2.565	0.09310	N	1	D	0.76494	0.999	D	0.70227	0.968	T	0.29274	-1.0017	9	.	.	.	.	6.6668	0.23044	0.7645:0.1549:0.0806:0.0	.	125	Q9NYW7	TA2R1_HUMAN	Q	125	ENSP00000371932:L125Q	.	L	-	2	0	TAS2R1	9682771	0.008000	0.16893	0.003000	0.11579	0.003000	0.03518	2.465000	0.45075	0.498000	0.27948	0.533000	0.62120	CTG		0.468	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			T	9629771	A	T	9629771	3	4	388	1	0	0	0	0	1	0	0	0	15565	188	7	5	529	5	TAS2R1	5	9629771	Missense_Mutation	SNP	A	TCGA-36-2538-01A-01D-1526-09		9629771	171285489	14	21163											
PGGT1B	5229	genome.wustl.edu	37	5	114552671	114552671	+	Splice_Site	SNP	C	C	G			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr5:114552671C>G	ENST00000419445.1	-	8	864		c.e8-1		PGGT1B_ENST00000379615.3_Splice_Site|PGGT1B_ENST00000514178.1_Splice_Site	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit						negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		TTTTTAGAAGCTGAAATGACA	0.328																																																0			5											44	47	46					5																	114552671		2202	4300	6502	114580570	SO:0001630	splice_region_variant	5229				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.844-1G>C	5.37:g.114552671C>G			114580570	Q5MJP9	Splice_Site	SNP	ENST00000419445.1	37	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478828	0.84747	.	.	ENSG00000164219	ENST00000419445;ENST00000379615	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1791	0.93615	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGGT1B	114580570	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.743000	0.85020	2.521000	0.84997	0.585000	0.79938	.		0.328	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023	Intron	G	114552671	C	G	114552671	5	3	388	1	0	0	0	0	0	0	1	0	11789	811	28	3	298	3	PGGT1B	5	114552671	Splice_Site	SNP	C	TCGA-36-2538-01A-01D-1526-09	104922900	114552671	66362589	15	21164											
BNIP1	662	genome.wustl.edu	37	5	172590743	172590743	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr5:172590743C>T	ENST00000351486.5	+	6	537	c.506C>T	c.(505-507)aCg>aTg	p.T169M	BNIP1_ENST00000393770.4_Missense_Mutation_p.T135M|BNIP1_ENST00000231668.9_Missense_Mutation_p.T212M|BNIP1_ENST00000352523.6_Missense_Mutation_p.T178M	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	169					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCACGAACGATCCTGGAT	0.507																																																0			5											66	65	65					5																	172590743		2203	4300	6503	172523349	SO:0001583	missense	662			AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.506C>T	5.37:g.172590743C>T	ENSP00000239215:p.Thr169Met		172523349	D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805830	0.90623	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.51071	0.74;0.72;0.76;0.72	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.76494	0.999;0.974;0.972;0.997	P;P;P;P	0.56916	0.809;0.803;0.534;0.803	T	0.68439	-0.5408	10	0.52906	T	0.07	.	19.9084	0.97016	0.0:1.0:0.0:0.0	.	135;178;169;212	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	M	212;169;178;135	ENSP00000231668:T212M;ENSP00000239215:T169M;ENSP00000239214:T178M;ENSP00000377365:T135M	ENSP00000231668:T212M	T	+	2	0	BNIP1	172523349	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.487000	0.81328	2.711000	0.92665	0.650000	0.86243	ACG		0.507	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		T	172590743	C	T	172590743	3	4	388	1	0	0	0	0	1	0	0	0	1476	536	19	1	661	1	BNIP1	5	172590743	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	58038072	172590743	8324517	16	21165											
VARS	7407	genome.wustl.edu	37	6	31747405	31747405	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr6:31747405G>C	ENST00000375663.3	-	27	3708	c.3268C>G	c.(3268-3270)Ccc>Gcc	p.P1090A	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000375686.3_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1090					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCCGGGTAGGGGGTAACACAG	0.672																																																0			6											32	39	36					6																	31747405		1506	2707	4213	31855384	SO:0001583	missense	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3268C>G	6.37:g.31747405G>C	ENSP00000364815:p.Pro1090Ala		31855384	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	1.877	-0.458845	0.04508	.	.	ENSG00000204394	ENST00000375663	T	0.11821	2.74	4.77	0.867	0.19085	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.343317	0.30593	N	0.009287	T	0.03348	0.0097	L	0.46741	1.465	0.80722	D	1	B	0.28933	0.228	B	0.26310	0.068	T	0.38023	-0.9680	10	0.25106	T	0.35	-11.8013	4.2838	0.10844	0.273:0.3267:0.4003:0.0	.	1090	P26640	SYVC_HUMAN	A	1090	ENSP00000364815:P1090A	ENSP00000364815:P1090A	P	-	1	0	VARS	31855384	0.948000	0.32251	0.113000	0.21522	0.042000	0.13812	0.456000	0.21859	-0.018000	0.14079	0.462000	0.41574	CCC		0.672	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		C	31747405	G	C	31747405	3	2	388	1	0	0	0	0	1	0	0	0	17123	1232	43	3	542	3	VARS	6	31747405	Missense_Mutation	SNP	G	TCGA-36-2538-01A-01D-1526-09		31747405	139367662	17	21166											
TCP11	6954	genome.wustl.edu	37	6	35088778	35088778	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr6:35088778T>C	ENST00000512012.1	-	5	779	c.623A>G	c.(622-624)aAc>aGc	p.N208S	TCP11_ENST00000418521.2_Missense_Mutation_p.N145S|TCP11_ENST00000311875.5_Missense_Mutation_p.N221S|TCP11_ENST00000444780.2_Missense_Mutation_p.N216S|TCP11_ENST00000373974.4_Missense_Mutation_p.N175S|TCP11_ENST00000373979.2_Missense_Mutation_p.N146S|TCP11_ENST00000412155.2_Missense_Mutation_p.N170S|TCP11_ENST00000244645.3_Missense_Mutation_p.N146S			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	208					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GATAGTGTAGTTCACCATGTC	0.463																																																0			6											187	187	187					6																	35088778		2203	4300	6503	35196756	SO:0001583	missense	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.623A>G	6.37:g.35088778T>C	ENSP00000425995:p.Asn208Ser		35196756	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	T	24.1	4.490268	0.84962	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	T;T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	4.32	4.32	0.51571	.	0.110756	0.64402	D	0.000016	T	0.42268	0.1195	M	0.91818	3.245	0.54753	D	0.999989	P;P;P;D;P;D	0.63880	0.932;0.932;0.932;0.975;0.932;0.993	P;P;P;P;P;P	0.61328	0.817;0.817;0.817;0.887;0.884;0.854	T	0.56697	-0.7936	10	0.87932	D	0	.	13.6127	0.62088	0.0:0.0:0.0:1.0	.	175;170;216;281;208;146	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	S	146;170;146;170;221;216;175;145;208;67	ENSP00000363091:N146S;ENSP00000402816:N170S;ENSP00000244645:N146S;ENSP00000308708:N221S;ENSP00000404479:N216S;ENSP00000363085:N175S;ENSP00000415320:N145S;ENSP00000425995:N208S;ENSP00000421103:N67S	ENSP00000244645:N146S	N	-	2	0	TCP11	35196756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.697000	0.68295	1.945000	0.56424	0.460000	0.39030	AAC		0.463	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		C	35088778	T	C	35088778	3	2	388	1	0	0	0	0	1	0	0	0	15713	1725	60	4	908	4	TCP11	6	35088778	Missense_Mutation	SNP	T	TCGA-36-2538-01A-01D-1526-09	3341373	35088778	136026289	18	21167											
DNAH8	1769	genome.wustl.edu	37	6	38743608	38743608	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr6:38743608A>G	ENST00000359357.3	+	11	1446	c.1192A>G	c.(1192-1194)Ata>Gta	p.I398V	DNAH8_ENST00000441566.1_Missense_Mutation_p.I398V|DNAH8_ENST00000449981.2_Missense_Mutation_p.I615V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	398					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTATGGCAATAAAATTCAG	0.299																																																0			6											56	65	62					6																	38743608		2195	4285	6480	38851586	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1192A>G	6.37:g.38743608A>G	ENSP00000352312:p.Ile398Val		38851586	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	13.53	2.263490	0.39995	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.54071	0.59;0.59;0.59	5.93	5.93	0.95920	Dynein heavy chain, domain-1 (1);	0.061100	0.64402	D	0.000002	T	0.15089	0.0364	N	0.02539	-0.55	0.43913	D	0.996551	B	0.09022	0.002	B	0.14023	0.01	T	0.09662	-1.0664	10	0.30078	T	0.28	.	14.6242	0.68608	1.0:0.0:0.0:0.0	.	398	Q96JB1	DYH8_HUMAN	V	603;603;398;398	ENSP00000333363:I603V;ENSP00000352312:I398V;ENSP00000402294:I398V	ENSP00000333363:I603V	I	+	1	0	DNAH8	38851586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.193000	0.58385	2.281000	0.76405	0.533000	0.62120	ATA		0.299	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38743608	A	G	38743608	3	3	388	1	0	0	0	0	1	0	0	0	4607	101	4	4	1226	4	DNAH8	6	38743608	Missense_Mutation	SNP	A	TCGA-36-2538-01A-01D-1526-09	3654830	38743608	132371459	19	21168											
TUBE1	51175	genome.wustl.edu	37	6	112394072	112394072	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr6:112394072C>T	ENST00000368662.5	-	10	1061	c.983G>A	c.(982-984)aGt>aAt	p.S328N	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	328					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	GTGATCTTTACTAAAGGCATC	0.363																																																0			6											110	116	114					6																	112394072		2203	4300	6503	112500765	SO:0001583	missense	51175			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"Tubulins"	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.983G>A	6.37:g.112394072C>T	ENSP00000357651:p.Ser328Asn		112500765	Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051649	0.93793	.	.	ENSG00000074935	ENST00000368662	D	0.81659	-1.52	6.16	6.16	0.99307	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	L	0.57536	1.79	0.80722	D	1	P	0.47106	0.89	P	0.48952	0.596	T	0.82735	-0.0310	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	328	Q9UJT0	TBE_HUMAN	N	328	ENSP00000357651:S328N	ENSP00000357651:S328N	S	-	2	0	TUBE1	112500765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.043000	0.71004	2.937000	0.99478	0.650000	0.86243	AGT		0.363	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262		T	112394072	C	T	112394072	3	4	388	1	0	0	0	0	1	0	0	0	16763	565	20	2	456	2	TUBE1	6	112394072	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	73650464	112394072	58720995	20	21169											
SEMA3A	10371	genome.wustl.edu	37	7	83636709	83636709	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr7:83636709A>C	ENST00000265362.4	-	10	1414	c.1100T>G	c.(1099-1101)gTg>gGg	p.V367G	SEMA3A_ENST00000436949.1_Missense_Mutation_p.V367G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	367	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTGATAAGGCACCCATTGATA	0.433																																																0			7											147	129	135					7																	83636709		2203	4300	6503	83474645	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1100T>G	7.37:g.83636709A>C	ENSP00000265362:p.Val367Gly		83474645		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.572513	0.65765	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.11495	2.77;2.77	4.4	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	L	0.39397	1.21	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.03818	-1.1001	10	0.18710	T	0.47	.	13.9342	0.64015	1.0:0.0:0.0:0.0	.	367	Q14563	SEM3A_HUMAN	G	367	ENSP00000265362:V367G;ENSP00000415260:V367G	ENSP00000265362:V367G	V	-	2	0	SEMA3A	83474645	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.468000	0.80943	1.751000	0.51876	0.459000	0.35465	GTG		0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		C	83636709	A	C	83636709	3	2	388	1	0	0	0	0	1	0	0	0	14027	159	6	5	1247	5	SEMA3A	7	83636709	Missense_Mutation	SNP	A	TCGA-36-2538-01A-01D-1526-09		83636709	75501954	21	21170											
DBF4	10926	genome.wustl.edu	37	7	87537420	87537420	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr7:87537420A>T	ENST00000265728.1	+	12	2471	c.1967A>T	c.(1966-1968)gAt>gTt	p.D656V		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	656					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GAAAATTCAGATAATCTGTTA	0.333																																																0			7											49	52	51					7																	87537420		2203	4297	6500	87375356	SO:0001583	missense	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1967A>T	7.37:g.87537420A>T	ENSP00000265728:p.Asp656Val		87375356	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	A	8.186	0.794873	0.16327	.	.	ENSG00000006634	ENST00000265728	T	0.35973	1.28	4.11	2.96	0.34315	.	0.170585	0.39020	N	0.001486	T	0.19406	0.0466	N	0.08118	0	0.09310	N	1	B;B	0.23650	0.072;0.089	B;B	0.29440	0.064;0.102	T	0.19976	-1.0289	10	0.87932	D	0	-3.8378	7.4115	0.27019	0.8971:0.0:0.1029:0.0	.	432;656	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	V	656	ENSP00000265728:D656V	ENSP00000265728:D656V	D	+	2	0	DBF4	87375356	0.454000	0.25728	0.705000	0.30386	0.362000	0.29581	1.079000	0.30766	0.630000	0.30394	0.533000	0.62120	GAT		0.333	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		T	87537420	A	T	87537420	3	4	388	1	0	0	0	0	1	0	0	0	4248	333	12	5	2013	5	DBF4	7	87537420	Missense_Mutation	SNP	A	TCGA-36-2538-01A-01D-1526-09	3900711	87537420	71601243	22	21171											
SAMD9L	219285	genome.wustl.edu	37	7	92761517	92761517	+	Silent	SNP	G	G	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr7:92761517G>A	ENST00000318238.4	-	5	4984	c.3768C>T	c.(3766-3768)caC>caT	p.H1256H	SAMD9L_ENST00000437805.1_Silent_p.H1256H|SAMD9L_ENST00000411955.1_Silent_p.H1256H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1256					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTTTTTAGGTGGGATGTGA	0.333																																																0			7											71	72	72					7																	92761517		2203	4300	6503	92599453	SO:0001819	synonymous_variant	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3768C>T	7.37:g.92761517G>A			92599453	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	CCDS34681.1																																																																																				0.333	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		A	92761517	G	A	92761517	2	1	388	1	0	0	0	0	0	0	0	1	13830	1252	44	2		2	SAMD9L	7	92761517	Silent	SNP	G	TCGA-36-2538-01A-01D-1526-09	5224097	92761517	66377146	23	21172											
CTTNBP2	83992	genome.wustl.edu	37	7	117364609	117364609	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr7:117364609C>A	ENST00000160373.3	-	19	4530	c.4439G>T	c.(4438-4440)aGc>aTc	p.S1480I		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1480					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACCTTCAGTGCTTAGGTCTGG	0.498																																																0			7											81	69	73					7																	117364609		2203	4300	6503	117151845	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4439G>T	7.37:g.117364609C>A	ENSP00000160373:p.Ser1480Ile		117151845	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.25|12.25	1.880682|1.880682	0.33255|0.33255	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.64438	.|-0.1	5.24|5.24	2.21|2.21	0.28008|0.28008	.|.	.|0.310653	.|0.44097	.|D	.|0.000490	T|T	0.55878|0.55878	0.1948|0.1948	M|M	0.77103|0.77103	2.36|2.36	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.45056|0.45056	-0.9287|-0.9287	5|10	.|0.25751	.|T	.|0.34	-14.5453|-14.5453	6.2089|6.2089	0.20617|0.20617	0.0:0.6265:0.1363:0.2372|0.0:0.6265:0.1363:0.2372	.|.	.|1480	.|Q8WZ74	.|CTTB2_HUMAN	N|I	967|1480	.|ENSP00000160373:S1480I	.|ENSP00000160373:S1480I	K|S	-|-	3|2	2|0	CTTNBP2|CTTNBP2	117151845|117151845	0.001000|0.001000	0.12720|0.12720	0.724000|0.724000	0.30704|0.30704	0.124000|0.124000	0.20399|0.20399	0.311000|0.311000	0.19380|0.19380	0.680000|0.680000	0.31366|0.31366	0.655000|0.655000	0.94253|0.94253	AAG|AGC		0.498	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		A	117364609	C	A	117364609	3	1	388	1	0	0	0	0	1	0	0	0	4045	797	28	3	572	3	CTTNBP2	7	117364609	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	24603092	117364609	41774054	24	21173											
ODF1	4956	genome.wustl.edu	37	8	103572819	103572819	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr8:103572819C>G	ENST00000285402.3	+	2	616	c.460C>G	c.(460-462)Cgg>Ggg	p.R154G	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	154					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GTCGGCTGAGCGGGAGAACAG	0.473																																																0			8											166	142	150					8																	103572819		2203	4300	6503	103641995	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.460C>G	8.37:g.103572819C>G	ENSP00000285402:p.Arg154Gly		103641995	Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421041	0.62622	.	.	ENSG00000155087	ENST00000285402	D	0.92805	-3.11	5.27	3.38	0.38709	Heat shock protein Hsp20 (2);	0.000000	0.49916	D	0.000124	D	0.92456	0.7605	L	0.34521	1.04	0.80722	D	1	D	0.58268	0.982	D	0.74023	0.982	D	0.91311	0.5074	10	0.62326	D	0.03	-16.4235	10.4145	0.44314	0.3694:0.6306:0.0:0.0	.	154	Q14990	ODFP1_HUMAN	G	154	ENSP00000285402:R154G	ENSP00000285402:R154G	R	+	1	2	ODF1	103641995	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	0.542000	0.28846	0.555000	0.69702	CGG		0.473	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			G	103572819	C	G	103572819	3	3	388	1	0	0	0	0	1	0	0	0	10826	759	27	3	466	3	ODF1	8	103572819	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09		103572819	42791203	25	21174											
PLXDC2	84898	genome.wustl.edu	37	10	20534434	20534434	+	Splice_Site	SNP	G	G	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr10:20534434G>A	ENST00000377252.4	+	13	2314	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Splice_Site_p.E442E	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	491					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCTTTATTGAGGTAAGTGTTG	0.428																																																0			10											247	219	229					10																	20534434		2203	4300	6503	20574440	SO:0001630	splice_region_variant	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1473+1G>A	10.37:g.20534434G>A			20574440	Q96E59|Q96PD9|Q96SU9	Silent	SNP	ENST00000377252.4	37	CCDS7132.1																																																																																				0.428	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	Silent	A	20534434	G	A	20534434	5	1	388	1	0	0	0	0	0	0	1	0	12118	1014	35	2	1523	2	PLXDC2	10	20534434	Splice_Site	SNP	G	TCGA-36-2538-01A-01D-1526-09		20534434	115000313	26	21175											
POLR3A	11128	genome.wustl.edu	37	10	79737337	79737337	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr10:79737337C>G	ENST00000372371.3	-	31	4209	c.4072G>C	c.(4072-4074)Ggg>Cgg	p.G1358R		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1358					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTGAAGAGCCCGGTTCCAATG	0.493																																																0			10											124	121	122					10																	79737337		2203	4300	6503	79407343	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.4072G>C	10.37:g.79737337C>G	ENSP00000361446:p.Gly1358Arg		79407343	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962920	0.92791	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	D	0.86562	-2.14	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96843	0.9619	9	.	.	.	-25.0465	19.3013	0.94145	0.0:1.0:0.0:0.0	.	1358	O14802	RPC1_HUMAN	R	1358;1337	ENSP00000361446:G1358R	.	G	-	1	0	POLR3A	79407343	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.038000	0.76537	2.569000	0.86673	0.655000	0.94253	GGG		0.493	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		G	79737337	C	G	79737337	3	3	388	1	0	0	0	0	1	0	0	0	12228	652	23	3	104	3	POLR3A	10	79737337	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	59202903	79737337	55797410	27	21176											
CD6	923	genome.wustl.edu	37	11	60785470	60785470	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr11:60785470C>A	ENST00000313421.7	+	11	2008	c.1822C>A	c.(1822-1824)Cag>Aag	p.Q608K	CD6_ENST00000352009.5_Missense_Mutation_p.Q576K|CD6_ENST00000452451.2_Missense_Mutation_p.Q567K|CD6_ENST00000344028.5_Missense_Mutation_p.Q576K|CD6_ENST00000346437.4_Missense_Mutation_p.Q535K	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	608					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGCCGGCACCCAGCCAGCCTT	0.597																																					Pancreas(169;904 2017 4767 38890 42505)											0			11											39	43	42					11																	60785470		2198	4288	6486	60542046	SO:0001583	missense	923				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1822C>A	11.37:g.60785470C>A	ENSP00000323280:p.Gln608Lys		60542046	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173323	0.38413	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	T;T;T;T;T	0.01685	4.9;4.87;4.94;4.69;4.8	5.18	5.18	0.71444	.	2.104890	0.02699	N	0.111525	T	0.04952	0.0133	L	0.56769	1.78	0.09310	N	1	P;P;B;P	0.46142	0.873;0.873;0.329;0.651	B;B;B;B	0.41510	0.359;0.359;0.077;0.115	T	0.51826	-0.8656	10	0.87932	D	0	.	14.1921	0.65644	0.0:1.0:0.0:0.0	.	567;576;608;608	P30203-5;P30203-4;P30203;Q8N4Q7	.;.;CD6_HUMAN;.	K	576;535;608;567;576	ENSP00000344108:Q576K;ENSP00000345566:Q535K;ENSP00000323280:Q608K;ENSP00000390676:Q567K;ENSP00000340628:Q576K	ENSP00000323280:Q608K	Q	+	1	0	CD6	60542046	0.834000	0.29399	0.105000	0.21289	0.905000	0.53344	2.413000	0.44618	2.428000	0.82296	0.313000	0.20887	CAG		0.597	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		A	60785470	C	A	60785470	3	1	388	1	0	0	0	0	1	0	0	0	3028	595	21	3	1864	3	CD6	11	60785470	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09		60785470	74221046	28	21177											
THRSP	7069	genome.wustl.edu	37	11	77775072	77775072	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr11:77775072G>A	ENST00000281030.2	+	1	166	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	49					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			TGGGGGCCAGGCCCAGGCTGA	0.642																																																0			11											85	87	87					11																	77775072		2200	4292	6492	77452720	SO:0001583	missense	7069			Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"SPOT14 homolog (rat)"	601926	"thyroid hormone responsive SPOT14 (rat) homolog", "lipogenic protein 1"	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.145G>A	11.37:g.77775072G>A	ENSP00000281030:p.Ala49Thr		77452720	B2R4W7	Missense_Mutation	SNP	ENST00000281030.2	37	CCDS8256.1	.	.	.	.	.	.	.	.	.	.	G	4.987	0.183395	0.09495	.	.	ENSG00000151365	ENST00000281030	.	.	.	5.11	3.13	0.36017	.	1.070810	0.07169	N	0.852123	T	0.27384	0.0672	.	.	.	0.09310	N	1	B	0.19445	0.036	B	0.23419	0.046	T	0.18209	-1.0344	8	0.13470	T	0.59	-17.91	10.5331	0.44988	0.1672:0.0:0.8328:0.0	.	49	Q92748	THRSP_HUMAN	T	49	.	ENSP00000281030:A49T	A	+	1	0	THRSP	77452720	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	0.387000	0.20718	1.338000	0.45544	0.561000	0.74099	GCC		0.642	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1	NM_003251		A	77775072	G	A	77775072	3	1	388	1	0	0	0	0	1	0	0	0	15876	1203	42	2	147	2	THRSP	11	77775072	Missense_Mutation	SNP	G	TCGA-36-2538-01A-01D-1526-09	16989602	77775072	57231444	29	21178											
KCTD21	283219	genome.wustl.edu	37	11	77884985	77884985	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr11:77884985T>C	ENST00000340067.3	-	2	894	c.616A>G	c.(616-618)Aag>Gag	p.K206E	KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	206					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			CAGAGCCTCTTGAGGTTCTGC	0.577																																																0			11											121	126	124					11																	77884985		2200	4292	6492	77562633	SO:0001583	missense	283219			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 21"			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.616A>G	11.37:g.77884985T>C	ENSP00000339340:p.Lys206Glu		77562633	B4DTR0	Missense_Mutation	SNP	ENST00000340067.3	37	CCDS31645.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.153030	0.57259	.	.	ENSG00000188997	ENST00000340067	T	0.77489	-1.1	5.88	5.88	0.94601	.	0.097719	0.44483	D	0.000451	T	0.61350	0.2340	N	0.14661	0.345	0.32133	N	0.586526	P	0.43788	0.817	B	0.36666	0.23	T	0.69124	-0.5228	10	0.31617	T	0.26	.	14.8672	0.70425	0.0:0.0:0.0:1.0	.	206	Q4G0X4	KCD21_HUMAN	E	206	ENSP00000339340:K206E	ENSP00000339340:K206E	K	-	1	0	KCTD21	77562633	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.555000	0.53727	2.250000	0.74265	0.454000	0.30748	AAG		0.577	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		C	77884985	T	C	77884985	3	2	388	1	0	0	0	0	1	0	0	0	8109	1821	63	4	170	4	KCTD21	11	77884985	Missense_Mutation	SNP	T	TCGA-36-2538-01A-01D-1526-09	109913	77884985	57121531	30	21179											
TAS2R8	50836	genome.wustl.edu	37	12	10958741	10958741	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr12:10958741C>T	ENST00000240615.2	-	1	1151	c.839G>A	c.(838-840)gGt>gAt	p.G280D		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	280					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGTGAGTGACCCAAGGGGTA	0.338																																																0			12											32	34	34					12																	10958741		2201	4298	6499	10850008	SO:0001583	missense	50836			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.839G>A	12.37:g.10958741C>T	ENSP00000240615:p.Gly280Asp		10850008	Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342703	0.24339	.	.	ENSG00000121314	ENST00000240615	T	0.37235	1.21	4.57	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.272209	0.21929	U	0.067048	T	0.60766	0.2294	M	0.86178	2.8	0.09310	N	1	D	0.67145	0.996	D	0.74348	0.983	T	0.54788	-0.8241	10	0.66056	D	0.02	.	10.9063	0.47081	0.0:0.6298:0.3701:0.0	.	280	Q9NYW2	TA2R8_HUMAN	D	280	ENSP00000240615:G280D	ENSP00000240615:G280D	G	-	2	0	TAS2R8	10850008	0.000000	0.05858	0.062000	0.19696	0.090000	0.18270	-0.175000	0.09825	1.083000	0.41159	0.655000	0.94253	GGT		0.338	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			T	10958741	C	T	10958741	3	4	388	1	0	0	0	0	1	0	0	0	15587	507	18	2	93	2	TAS2R8	12	10958741	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09		10958741	122893154	31	21180											
RB1	5925	genome.wustl.edu	37	13	48881462	48881462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr13:48881462C>T	ENST00000267163.4	+	2	322	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	62					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)|p.Q62*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGCATTATGTCAGAAATTAAA	0.323		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	19	Whole gene deletion(15)|Unknown(3)|Substitution - Nonsense(1)	bone(10)|eye(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|soft_tissue(1)|endometrium(1)|stomach(1)	13											134	135	135					13																	48881462		2203	4300	6503	47779463	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.184C>T	13.37:g.48881462C>T	ENSP00000267163:p.Gln62*		47779463	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	37	5.990111	0.97179	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	4.83	4.83	0.62350	.	0.291280	0.35262	N	0.003329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	13.7951	0.63166	0.0:1.0:0.0:0.0	.	.	.	.	X	41;62	.	ENSP00000267163:Q62X	Q	+	1	0	RB1	47779463	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.190000	0.42630	2.373000	0.80994	0.650000	0.86243	CAG		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			T	48881462	C	T	48881462	4	4	388	1	0	0	0	0	0	1	0	0	13101	827	29	2	190	2	RB1	13	48881462	Nonsense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09		48881462	66288416	32	21181											
ITGAD	3681	genome.wustl.edu	37	16	31422654	31422654	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr16:31422654T>C	ENST00000389202.2	+	14	1572	c.1523T>C	c.(1522-1524)gTt>gCt	p.V508A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	508					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGTGACGCTGTTCTCCGTGGT	0.622																																																0			16											118	116	117					16																	31422654		2197	4300	6497	31330155	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1523T>C	16.37:g.31422654T>C	ENSP00000373854:p.Val508Ala		31330155	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	2.847	-0.239251	0.05944	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.70986	-0.53	4.49	3.39	0.38822	.	.	.	.	.	T	0.64283	0.2584	M	0.67625	2.065	0.09310	N	1	B;B	0.19817	0.039;0.022	B;B	0.18871	0.023;0.023	T	0.52764	-0.8532	9	0.28530	T	0.3	.	6.0824	0.19948	0.0:0.1238:0.0:0.8762	.	524;508	Q59H14;Q13349	.;ITAD_HUMAN	A	524;508	ENSP00000373854:V508A	ENSP00000373854:V508A	V	+	2	0	ITGAD	31330155	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.068000	0.14531	0.584000	0.29591	0.334000	0.21626	GTT		0.622	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		C	31422654	T	C	31422654	3	2	388	1	0	0	0	0	1	0	0	0	7884	1725	60	4	1577	4	ITGAD	16	31422654	Missense_Mutation	SNP	T	TCGA-36-2538-01A-01D-1526-09		31422654	58932099	33	21182											
KATNB1	10300	genome.wustl.edu	37	16	57787122	57787122	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr16:57787122G>A	ENST00000379661.3	+	11	1381	c.989G>A	c.(988-990)aGc>aAc	p.S330N		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CCCAACCCCAGCGCCCCCCTC	0.701																																																0			16											15	19	17					16																	57787122		2162	4209	6371	56344623	SO:0001583	missense	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.989G>A	16.37:g.57787122G>A	ENSP00000368982:p.Ser330Asn		56344623		Missense_Mutation	SNP	ENST00000379661.3	37	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195461	0.09599	.	.	ENSG00000140854	ENST00000379661	T	0.54866	0.55	5.19	2.09	0.27110	.	0.394526	0.29980	N	0.010720	T	0.23649	0.0572	N	0.02539	-0.55	0.09310	N	1	B	0.27498	0.18	B	0.21546	0.035	T	0.15636	-1.0430	10	0.34782	T	0.22	1.8451	9.5384	0.39237	0.0739:0.2701:0.6561:0.0	.	330	Q9BVA0	KTNB1_HUMAN	N	330	ENSP00000368982:S330N	ENSP00000368982:S330N	S	+	2	0	KATNB1	56344623	0.962000	0.33011	0.050000	0.19076	0.155000	0.21991	3.810000	0.55613	0.184000	0.20083	-0.282000	0.10007	AGC		0.701	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			A	57787122	G	A	57787122	3	1	388	1	0	0	0	0	1	0	0	0	7987	971	34	2	1027	2	KATNB1	16	57787122	Missense_Mutation	SNP	G	TCGA-36-2538-01A-01D-1526-09	26364468	57787122	32567631	34	21183											
ANKRD11	29123	genome.wustl.edu	37	16	89351486	89351486	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr16:89351486A>T	ENST00000301030.4	-	9	1924	c.1464T>A	c.(1462-1464)agT>agA	p.S488R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S488R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	488	Ser-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CATCCTCCCCACTCTCTGAGG	0.587																																																0			16											28	32	31					16																	89351486		2197	4299	6496	87878987	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1464T>A	16.37:g.89351486A>T	ENSP00000301030:p.Ser488Arg		87878987	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405892	0.42715	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.40225	1.04;1.04	5.58	-6.62	0.01813	.	0.091863	0.64402	D	0.000001	T	0.52517	0.1739	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.68192	0.956;0.895	T	0.63910	-0.6530	10	0.87932	D	0	.	15.9378	0.79729	0.6779:0.0:0.3221:0.0	.	107;488	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	R	488;488;107	ENSP00000301030:S488R;ENSP00000367581:S488R	ENSP00000301030:S488R	S	-	3	2	ANKRD11	87878987	0.000000	0.05858	0.001000	0.08648	0.156000	0.22039	-1.859000	0.01657	-0.930000	0.03752	-0.624000	0.04008	AGT		0.587	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89351486	A	T	89351486	3	4	388	1	0	0	0	0	1	0	0	0	639	156	6	5	6547	5	ANKRD11	16	89351486	Missense_Mutation	SNP	A	TCGA-36-2538-01A-01D-1526-09	31564364	89351486	1003267	35	21184											
TP53	7157	genome.wustl.edu	37	17	7578448	7578448	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr17:7578448G>T	ENST00000269305.4	-	5	671	c.482C>A	c.(481-483)gCc>gAc	p.A161D	TP53_ENST00000420246.2_Missense_Mutation_p.A161D|TP53_ENST00000413465.2_Missense_Mutation_p.A161D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.A161D|TP53_ENST00000455263.2_Missense_Mutation_p.A161D|TP53_ENST00000445888.2_Missense_Mutation_p.A161D	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	161	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A161D(11)|p.0?(8)|p.A161V(8)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A29D(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S149fs*72(1)|p.V157_I162delVRAMAI(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.A161T(1)|p.A161fs*8(1)|p.I162fs*8(1)|p.A161F(1)|p.A161G(1)|p.R158fs*8(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)	CTTGTAGATGGCCATGGCGCG	0.627		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"	47	Substitution - Missense(24)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(7)	lung(13)|ovary(5)|central_nervous_system(4)|oesophagus(4)|bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|large_intestine(2)|thyroid(1)|upper_aerodigestive_tract(1)|vulva(1)|cervix(1)|skin(1)|liver(1)	17	GRCh37	CI023564	TP53	I							53	53	53					17																	7578448		2203	4300	6503	7519173	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.482C>A	17.37:g.7578448G>T	ENSP00000269305:p.Ala161Asp		7519173	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	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358715	0.61403	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.59	4.63	0.57726	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	0.99802	0.9915	M	0.86420	2.815	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.992;0.999;1.0;1.0;1.0	D	0.96947	0.9692	10	0.87932	D	0	-25.6622	12.6491	0.56751	0.0804:0.0:0.9196:0.0	.	122;161;161;68;161;161;161	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	161;161;161;161;161;161;150;68;29;68;29;161	ENSP00000410739:A161D;ENSP00000352610:A161D;ENSP00000269305:A161D;ENSP00000398846:A161D;ENSP00000391127:A161D;ENSP00000391478:A161D;ENSP00000425104:A29D;ENSP00000423862:A68D;ENSP00000424104:A161D	ENSP00000269305:A161D	A	-	2	0	TP53	7519173	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	9.813000	0.99286	1.514000	0.48869	-0.140000	0.14226	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578448	G	T	7578448	3	4	388	1	0	0	0	0	1	0	0	0	16381	1203	42	3	816	3	TP53	17	7578448	Missense_Mutation	SNP	G	TCGA-36-2538-01A-01D-1526-09		7578448	73616762	36	21185											
CYTSB	92521	genome.wustl.edu	37	17	20149327	20149327	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr17:20149327C>T	ENST00000261503.5	+	8	2491	c.2440C>T	c.(2440-2442)Cca>Tca	p.P814S	SPECC1_ENST00000395530.2_Missense_Mutation_p.P733S|SPECC1_ENST00000395527.4_Missense_Mutation_p.P814S|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.P154S	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	814					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCCAACACCCCCAGAGTCGGC	0.483																																																0			17											87	77	81					17																	20149327		2203	4300	6503	20089919	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2440C>T	17.37:g.20149327C>T	ENSP00000261503:p.Pro814Ser		20089919	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	1.557	-0.537604	0.04082	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.36699	1.24;1.24	4.5	-2.62	0.06152	.	0.587641	0.18751	N	0.132167	T	0.04952	0.0133	N	0.00101	-2.135	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37641	-0.9697	10	0.02654	T	1	-0.004	5.4849	0.16743	0.0:0.2028:0.4656:0.3316	.	814;733;814	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	S	814;814;154;733	ENSP00000261503:P814S;ENSP00000438294:P154S	ENSP00000261503:P814S	P	+	1	0	SPECC1	20089919	0.001000	0.12720	0.000000	0.03702	0.442000	0.32017	-0.314000	0.08092	-0.619000	0.05648	-0.384000	0.06662	CCA		0.483	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		T	20149327	C	T	20149327	3	4	388	1	0	0	0	0	1	0	0	0	4210	623	22	2	2536	2	CYTSB	17	20149327	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	12570879	20149327	61045883	37	21186											
SLC38A10	124565	genome.wustl.edu	37	17	79257259	79257259	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr17:79257259C>G	ENST00000374759.3	-	4	690	c.307G>C	c.(307-309)Gtg>Ctg	p.V103L	SLC38A10_ENST00000288439.5_Missense_Mutation_p.V103L|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	103					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCGCCGATCACGACGTAGAAG	0.592																																																0			17											81	57	65					17																	79257259		2201	4298	6499	76871854	SO:0001583	missense	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.307G>C	17.37:g.79257259C>G	ENSP00000363891:p.Val103Leu		76871854	Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507392	0.64410	.	.	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	T;T;T	0.01933	4.55;4.55;4.55	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.83275	0.952;0.996	T	0.00567	-1.1667	10	0.72032	D	0.01	-36.0892	18.1105	0.89534	0.0:1.0:0.0:0.0	.	103;103	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	L	103;103;55	ENSP00000363891:V103L;ENSP00000288439:V103L;ENSP00000439115:V55L	ENSP00000288439:V103L	V	-	1	0	SLC38A10	76871854	1.000000	0.71417	0.116000	0.21606	0.004000	0.04260	7.103000	0.77014	2.334000	0.79466	0.561000	0.74099	GTG		0.592	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		G	79257259	C	G	79257259	3	3	388	1	0	0	0	0	1	0	0	0	14605	536	19	3	3382	3	SLC38A10	17	79257259	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	59107932	79257259	1937951	38	21187											
JSRP1	126306	genome.wustl.edu	37	19	2254190	2254190	+	Silent	SNP	T	T	A	rs533027997		TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr19:2254190T>A	ENST00000300961.6	-	4	322	c.258A>T	c.(256-258)ggA>ggT	p.G86G	JSRP1_ENST00000586471.2_Silent_p.G86G	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	86					protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCACTCGCTCCGGCTTTCA	0.637											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											134	131	132					19																	2254190		2203	4300	6503	2205190	SO:0001819	synonymous_variant	126306			AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.258A>T	19.37:g.2254190T>A		602	2205190		Silent	SNP	ENST00000300961.6	37	CCDS12086.1																																																																																				0.637	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		A	2254190	T	A	2254190	2	1	388	1	0	0	0	0	0	0	0	1	7966	1538	54	5		5	JSRP1	19	2254190	Silent	SNP	T	TCGA-36-2538-01A-01D-1526-09		2254190	56874793	39	21188											
SIRT6	51548	genome.wustl.edu	37	19	4174680	4174680	+	Silent	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr19:4174680C>T	ENST00000337491.2	-	8	1066	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	SIRT6_ENST00000305232.6_Silent_p.E307E|SIRT6_ENST00000594279.1_3'UTR|SIRT6_ENST00000601488.1_3'UTR|SIRT6_ENST00000381935.3_Silent_p.E262E	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	334	Pro-rich.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGGCCGCTCCCGTTTGG	0.687																																																0			19											3	4	4					19																	4174680		1996	3951	5947	4125680	SO:0001819	synonymous_variant	51548			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6", "sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.1002G>A	19.37:g.4174680C>T			4125680	B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Silent	SNP	ENST00000337491.2	37	CCDS12122.1																																																																																				0.687	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			T	4174680	C	T	4174680	2	4	388	1	0	0	0	0	0	0	0	1	14345	796	28	2		2	SIRT6	19	4174680	Silent	SNP	C	TCGA-36-2538-01A-01D-1526-09	1920490	4174680	54954303	40	21189											
ZNF256	10172	genome.wustl.edu	37	19	58452731	58452731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr19:58452731C>T	ENST00000282308.3	-	3	1641	c.1445G>A	c.(1444-1446)tGg>tAg	p.W482*	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	482					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		ATGAACTTTCCAGTGTGAGAT	0.448																																					NSCLC(55;1313 1552 8040 11996)											0			19											87	86	86					19																	58452731		2203	4300	6503	63144543	SO:0001587	stop_gained	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1445G>A	19.37:g.58452731C>T	ENSP00000282308:p.Trp482*		63144543	B2RA92|Q53Y85|Q9BV71	Nonsense_Mutation	SNP	ENST00000282308.3	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	36	5.907409	0.97093	.	.	ENSG00000152454	ENST00000282308	.	.	.	2.96	-4.34	0.03666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	1.891	0.03248	0.1485:0.1766:0.1474:0.5275	.	.	.	.	X	482	.	ENSP00000282308:W482X	W	-	2	0	ZNF256	63144543	0.000000	0.05858	0.000000	0.03702	0.795000	0.44927	-4.932000	0.00169	-0.724000	0.04908	0.467000	0.42956	TGG		0.448	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			T	58452731	C	T	58452731	4	4	388	1	0	0	0	0	0	1	0	0	17799	595	21	2	442	2	ZNF256	19	58452731	Nonsense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	54278051	58452731	676252	41	21190											
GATA5	140628	genome.wustl.edu	37	20	61039909	61039909	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr20:61039909C>T	ENST00000252997.2	-	7	1238	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	393					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			AAGGCCAGCGCACACCAGGCC	0.657																																																0			20											35	39	38					20																	61039909		2203	4300	6503	60473304	SO:0001583	missense	140628			BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.1177G>A	20.37:g.61039909C>T	ENSP00000252997:p.Ala393Thr		60473304	D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	CCDS13499.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106804	0.77096	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.98762	-5.12	5.27	2.18	0.27775	.	0.107027	0.64402	N	0.000006	D	0.98601	0.9532	M	0.66939	2.045	0.46437	D	0.999049	D	0.89917	1.0	D	0.83275	0.996	D	0.98173	1.0453	10	0.72032	D	0.01	-9.4437	9.9129	0.41417	0.0:0.6643:0.2633:0.0724	.	393	Q9BWX5	GATA5_HUMAN	T	393;413;393	ENSP00000252997:A393T	ENSP00000252997:A393T	A	-	1	0	GATA5	60473304	1.000000	0.71417	0.808000	0.32385	0.983000	0.72400	1.250000	0.32850	0.201000	0.20466	0.555000	0.69702	GCG		0.657	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		T	61039909	C	T	61039909	3	4	388	1	0	0	0	0	1	0	0	0	6257	710	25	2	20	2	GATA5	20	61039909	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09		61039909	1985611	42	21191											
WNT7B	7477	genome.wustl.edu	37	22	46327179	46327179	+	Silent	SNP	G	G	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chr22:46327179G>A	ENST00000339464.4	-	3	743	c.369C>T	c.(367-369)tgC>tgT	p.C123C	WNT7B_ENST00000410089.1_Silent_p.C107C|WNT7B_ENST00000409496.3_Silent_p.C127C|WNT7B_ENST00000410058.1_Silent_p.C123C	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	123					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCTTGGCTGCAGGCAGCGG	0.687																																																0			22											34	32	33					22																	46327179		2203	4300	6503	44705843	SO:0001819	synonymous_variant	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.369C>T	22.37:g.46327179G>A			44705843	B8A596|Q96Q12	Silent	SNP	ENST00000339464.4	37	CCDS33667.1																																																																																				0.687	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		A	46327179	G	A	46327179	2	1	388	1	0	0	0	0	0	0	0	1	17395	1311	46	2		2	WNT7B	22	46327179	Silent	SNP	G	TCGA-36-2538-01A-01D-1526-09		46327179	4977387	43	21192											
MED14	9282	genome.wustl.edu	37	X	40540085	40540085	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chrX:40540085A>T	ENST00000324817.1	-	20	2653	c.2535T>A	c.(2533-2535)agT>agA	p.S845R	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	845					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTGACAGTTACTGCAACCTG	0.333																																																0			X											128	111	117					X																	40540085		2203	4300	6503	40425029	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2535T>A	X.37:g.40540085A>T	ENSP00000323720:p.Ser845Arg		40425029	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147310	0.77888	.	.	ENSG00000180182	ENST00000324817	.	.	.	6.02	4.87	0.63330	.	0.074868	0.85682	D	0.000000	T	0.57504	0.2058	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	T	0.53865	-0.8378	9	0.24483	T	0.36	.	8.0706	0.30687	0.8484:0.0:0.1516:0.0	.	845	O60244	MED14_HUMAN	R	845	.	ENSP00000323720:S845R	S	-	3	2	MED14	40425029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.986000	0.56937	2.034000	0.60081	0.486000	0.48141	AGT		0.333	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		T	40540085	A	T	40540085	3	4	388	1	0	0	0	0	1	0	0	0	9432	388	14	5	1877	5	MED14	23	40540085	Missense_Mutation	SNP	A	TCGA-36-2538-01A-01D-1526-09		40540085	114730475	44	21193											
CXorf65	158830	genome.wustl.edu	37	X	70323949	70323949	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chrX:70323949C>A	ENST00000374251.5	-	6	488	c.440G>T	c.(439-441)gGa>gTa	p.G147V		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	147										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GTCTGATCGTCCTGATTGCTT	0.443																																																0			X											81	64	70					X																	70323949		2203	4300	6503	70240674	SO:0001583	missense	158830			BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.440G>T	X.37:g.70323949C>A	ENSP00000363369:p.Gly147Val		70240674		Missense_Mutation	SNP	ENST00000374251.5	37	CCDS35324.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749969	0.49257	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.58940	0.63;0.3	3.87	3.87	0.44632	.	1.600030	0.03371	N	0.198953	T	0.68842	0.3045	L	0.38175	1.15	0.22926	N	0.998558	D	0.76494	0.999	D	0.66716	0.946	T	0.56444	-0.7978	10	0.62326	D	0.03	-4.8613	10.4248	0.44371	0.0:1.0:0.0:0.0	.	147	A6NEN9	CX065_HUMAN	V	147;167	ENSP00000363369:G147V;ENSP00000411354:G167V	ENSP00000363369:G147V	G	-	2	0	CXorf65	70240674	0.062000	0.20869	0.017000	0.16124	0.013000	0.08279	1.812000	0.38952	1.920000	0.55613	0.600000	0.82982	GGA		0.443	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		A	70323949	C	A	70323949	3	1	388	1	0	0	0	0	1	0	0	0	4117	855	30	3	115	3	CXorf65	23	70323949	Missense_Mutation	SNP	C	TCGA-36-2538-01A-01D-1526-09	29783864	70323949	84946611	45	21194											
TKTL1	8277	genome.wustl.edu	37	X	153541113	153541113	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2538-01A-01D-1526-09	TCGA-36-2538-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	db4480de-2a4a-479b-b4cc-ac0e684c3348	a18e2616-db9b-4fa1-910f-92ca7e83b966	g.chrX:153541113G>T	ENST00000369915.3	+	6	1042	c.853G>T	c.(853-855)Gtt>Ttt	p.V285F	TKTL1_ENST00000369912.2_Missense_Mutation_p.V229F|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	285					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGATTACAGAGTTGGTGACAA	0.438																																																0			X											87	72	77					X																	153541113		2203	4300	6503	153194307	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.853G>T	X.37:g.153541113G>T	ENSP00000358931:p.Val285Phe		153194307	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384791	0.42308	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000369912	T;T	0.42900	0.96;0.96	4.52	-2.19	0.07015	.	0.862099	0.10216	N	0.701528	T	0.28499	0.0705	L	0.43152	1.355	0.09310	N	1	P;P	0.40050	0.7;0.7	B;B	0.35813	0.211;0.211	T	0.13764	-1.0497	10	0.49607	T	0.09	-4.6118	5.8893	0.18899	0.6449:0.0:0.2024:0.1527	.	279;285	B7Z7I0;P51854	.;TKTL1_HUMAN	F	285;229;229	ENSP00000358931:V285F;ENSP00000358928:V229F	ENSP00000358928:V229F	V	+	1	0	TKTL1	153194307	0.000000	0.05858	0.000000	0.03702	0.786000	0.44442	-1.248000	0.02890	-0.504000	0.06577	0.190000	0.17370	GTT		0.438	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		T	153541113	G	T	153541113	3	4	388	1	0	0	0	0	1	0	0	0	15935	1029	36	3	875	3	TKTL1	23	153541113	Missense_Mutation	SNP	G	TCGA-36-2538-01A-01D-1526-09	83217164	153541113	1729447	46	21195											
NPR1	4881	genome.wustl.edu	37	1	153651993	153651993	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr1:153651993C>G	ENST00000368680.3	+	1	881	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	137					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGTCCCGCTGCTGACCGCCGG	0.736																																					Pancreas(141;1349 1870 15144 15830 40702)											0			1											2	3	2					1																	153651993		1573	3175	4748	151918617	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.409C>G	1.37:g.153651993C>G	ENSP00000357669:p.Leu137Val		151918617	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	9.832	1.188554	0.21954	.	.	ENSG00000169418	ENST00000368680	T	0.80738	-1.41	4.14	4.14	0.48551	Extracellular ligand-binding receptor (1);	0.215492	0.32328	N	0.006254	T	0.45438	0.1342	N	0.10760	0.04	0.80722	D	1	B	0.16603	0.018	B	0.20577	0.03	T	0.46965	-0.9153	10	0.28530	T	0.3	.	9.3918	0.38378	0.2132:0.7868:0.0:0.0	.	137	P16066	ANPRA_HUMAN	V	137	ENSP00000357669:L137V	ENSP00000357669:L137V	L	+	1	2	NPR1	151918617	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.341000	0.33907	1.836000	0.53414	0.462000	0.41574	CTG		0.736	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		G	153651993	C	G	153651993	3	3	389	1	0	0	0	0	1	0	0	0	10594	796	28	3	411	3	NPR1	1	153651993	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09		153651993	95598628	1	21196											
KIAA0907	22889	genome.wustl.edu	37	1	155895441	155895441	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr1:155895441G>C	ENST00000368321.3	-	7	898	c.875C>G	c.(874-876)cCt>cGt	p.P292R	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.P292R|SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368319.3_Missense_Mutation_p.P292R	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	292							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AATATACATAGGTTCAAAAGC	0.463																																																0			1											80	80	80					1																	155895441		2203	4300	6503	154162065	SO:0001583	missense	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.875C>G	1.37:g.155895441G>C	ENSP00000357304:p.Pro292Arg		154162065	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580156	0.86645	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.46819	0.86;0.86;0.86	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.86097	2.795	0.80722	D	1	D;D;D	0.65815	0.985;0.995;0.988	D;D;D	0.69307	0.954;0.963;0.952	T	0.70605	-0.4826	10	0.54805	T	0.06	-8.6402	19.6917	0.96005	0.0:0.0:1.0:0.0	.	292;292;292	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	R	292	ENSP00000357304:P292R;ENSP00000357303:P292R;ENSP00000357302:P292R	ENSP00000357302:P292R	P	-	2	0	KIAA0907	154162065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.471000	0.97696	2.751000	0.94390	0.650000	0.86243	CCT		0.463	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		C	155895441	G	C	155895441	3	2	389	1	0	0	0	0	1	0	0	0	8199	1000	35	3	1001	3	KIAA0907	1	155895441	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09	2243448	155895441	93355180	2	21197											
ZNF281	23528	genome.wustl.edu	37	1	200378734	200378734	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr1:200378734C>G	ENST00000294740.3	-	2	224	c.100G>C	c.(100-102)Ggc>Cgc	p.G34R	ZNF281_ENST00000367352.3_Missense_Mutation_p.G34R|ZNF281_ENST00000367353.1_Missense_Mutation_p.G34R	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	34	Gly-rich.				embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ccgctgctgccgccgccgccg	0.677																																																0			1											7	5	6					1																	200378734		1501	3211	4712	198645357	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.100G>C	1.37:g.200378734C>G	ENSP00000294740:p.Gly34Arg		198645357	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	c	2.335	-0.352569	0.05173	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	D;D;D	0.97209	-1.97;-1.97;-4.29	4.15	1.23	0.21249	.	0.373876	0.17671	U	0.165971	D	0.89863	0.6838	N	0.08118	0	0.09310	N	0.999997	B;B	0.18461	0.028;0.028	B;B	0.15052	0.012;0.012	T	0.82983	-0.0186	10	0.66056	D	0.02	-15.2041	5.5396	0.17031	0.0:0.5906:0.1813:0.2281	.	34;34	A6NF48;Q9Y2X9	.;ZN281_HUMAN	R	34	ENSP00000294740:G34R;ENSP00000356322:G34R;ENSP00000356321:G34R	ENSP00000294740:G34R	G	-	1	0	ZNF281	198645357	0.433000	0.25562	0.953000	0.39169	0.176000	0.22953	-1.287000	0.02785	0.161000	0.19458	-1.808000	0.00615	GGC		0.677	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		G	200378734	C	G	200378734	3	3	389	1	0	0	0	0	1	0	0	0	17818	652	23	3	2591	3	ZNF281	1	200378734	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09	44483293	200378734	48871887	3	21198											
BATF3	55509	genome.wustl.edu	37	1	212860168	212860168	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr1:212860168G>A	ENST00000243440.1	-	3	571	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	117					dendritic cell differentiation (GO:0097028)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		GGGTCCGGCCGGGGAGGCACT	0.612																																																0			1											67	64	65					1																	212860168		2203	4300	6503	210926791	SO:0001583	missense	55509			AF255346	CCDS1508.1	1q32.3	2013-01-10			ENSG00000123685	ENSG00000123685		"basic leucine zipper proteins"	28915	protein-coding gene	gene with protein product	"Jun dimerization protein 1"	612470				10878360, 12087103	Standard	NM_018664		Approved	JUNDM1, SNFT, JDP1	uc001hjl.2	Q9NR55	OTTHUMG00000036807	ENST00000243440.1:c.349C>T	1.37:g.212860168G>A	ENSP00000243440:p.Arg117Trp		210926791		Missense_Mutation	SNP	ENST00000243440.1	37	CCDS1508.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135748	0.37728	.	.	ENSG00000123685	ENST00000243440	T	0.59083	0.29	0.694	0.694	0.18062	.	0.626663	0.12454	N	0.467499	T	0.69115	0.3075	L	0.60455	1.87	0.37955	D	0.932788	D	0.89917	1.0	D	0.75020	0.985	T	0.72033	-0.4412	9	0.62326	D	0.03	-0.182	.	.	.	.	117	Q9NR55	BATF3_HUMAN	W	117	ENSP00000243440:R117W	ENSP00000243440:R117W	R	-	1	2	BATF3	210926791	0.997000	0.39634	0.703000	0.30354	0.708000	0.40852	0.529000	0.23019	0.647000	0.30713	0.655000	0.94253	CGG		0.612	BATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089403.1	NM_018664		A	212860168	G	A	212860168	3	1	389	1	0	0	0	0	1	0	0	0	1327	1115	39	1	38	1	BATF3	1	212860168	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09	12481434	212860168	36390453	4	21199											
PSEN2	5664	genome.wustl.edu	37	1	227079449	227079449	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr1:227079449G>A	ENST00000366783.3	+	11	1412	c.976G>A	c.(976-978)Gac>Aac	p.D326N	PSEN2_ENST00000366782.1_Missense_Mutation_p.D359N|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000422240.2_Missense_Mutation_p.D325N|PSEN2_ENST00000472139.2_Missense_Mutation_p.D182N|PSEN2_ENST00000391872.2_Missense_Mutation_p.D359N|PSEN2_ENST00000340188.4_Missense_Mutation_p.D293N	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	326					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CCCAGAAGAAGACTCCTATGA	0.527																																																0			1											82	81	81					1																	227079449		2203	4300	6503	225146072	SO:0001583	missense	5664			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.976G>A	1.37:g.227079449G>A	ENSP00000355747:p.Asp326Asn		225146072	A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116501	0.56505	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99760	-6.65;-6.37;-6.63;-6.66;-6.66;-6.32	4.78	4.78	0.61160	.	0.896444	0.09680	N	0.769882	D	0.99004	0.9660	L	0.56769	1.78	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.17098	0.004;0.017	D	0.98550	1.0636	10	0.07644	T	0.81	.	13.1864	0.59684	0.0:0.0:1.0:0.0	.	325;326	A8K8D4;P49810	.;PSN2_HUMAN	N	326;293;325;359;359;182	ENSP00000355747:D326N;ENSP00000339860:D293N;ENSP00000403737:D325N;ENSP00000355746:D359N;ENSP00000375745:D359N;ENSP00000427806:D182N	ENSP00000339860:D293N	D	+	1	0	PSEN2	225146072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.877000	0.63086	2.483000	0.83821	0.655000	0.94253	GAC		0.527	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		A	227079449	G	A	227079449	3	1	389	1	0	0	0	0	1	0	0	0	12654	942	33	2	1006	2	PSEN2	1	227079449	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09	14219281	227079449	22171172	5	21200											
ABCG8	64241	genome.wustl.edu	37	2	44079924	44079924	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr2:44079924T>C	ENST00000272286.2	+	6	971	c.881T>C	c.(880-882)tTa>tCa	p.L294S		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	294	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCCATCTACTTAGGGGCGGCC	0.587																																																0			2											90	85	87					2																	44079924		2203	4300	6503	43933428	SO:0001583	missense	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.881T>C	2.37:g.44079924T>C	ENSP00000272286:p.Leu294Ser		43933428	Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	3.496	-0.102896	0.06967	.	.	ENSG00000143921	ENST00000272286	T	0.35048	1.33	5.57	3.14	0.36123	ABC transporter-like (1);	0.410282	0.27219	N	0.020373	T	0.10035	0.0246	N	0.01493	-0.835	0.09310	N	0.999995	B;B	0.16166	0.012;0.016	B;B	0.18871	0.023;0.01	T	0.13202	-1.0518	10	0.20519	T	0.43	.	0.0784	0.00029	0.2426:0.2139:0.249:0.2945	.	294;294	Q9H221-2;Q9H221	.;ABCG8_HUMAN	S	294	ENSP00000272286:L294S	ENSP00000272286:L294S	L	+	2	0	ABCG8	43933428	1.000000	0.71417	0.688000	0.30117	0.244000	0.25665	2.946000	0.49050	0.882000	0.36016	0.533000	0.62120	TTA		0.587	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		C	44079924	T	C	44079924	3	2	389	1	0	0	0	0	1	0	0	0	72	1764	61	4	903	4	ABCG8	2	44079924	Missense_Mutation	SNP	T	TCGA-36-2539-01A-01D-1526-09		44079924	199119449	6	21201											
CD302	9936	genome.wustl.edu	37	2	160636685	160636685	+	Silent	SNP	C	C	T	rs146987171		TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr2:160636685C>T	ENST00000259053.4	-	4	343	c.300G>A	c.(298-300)gcG>gcA	p.A100A	CD302_ENST00000429078.2_Intron|LY75_ENST00000553424.1_Silent_p.A1685A|LY75-CD302_ENST00000504764.1_Silent_p.A1741A|LY75-CD302_ENST00000505052.1_Silent_p.A1685A|LY75_ENST00000554112.1_Silent_p.A1741A|CD302_ENST00000480212.1_5'UTR	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	100	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.A100A(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						ACTTGAAACTCGCATCTGTCA	0.348																																																1	Substitution - coding silent(1)	lung(1)	2						C	,,,,	1,4403	2.1+/-5.4	0,1,2201	97	88	91		5223,5055,,189,300	-6.4	0	2	dbSNP_134	91	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	CD302,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_001198763.1,NM_001198764.1,NM_014880.4	,,,,	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	,,,,	1741/1874,1685/1818,,63/196,100/233	160636685	3,13001	2202	4300	6502	160344931	SO:0001819	synonymous_variant	9936			AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"CD molecules", "C-type lectin domain containing"	30843	protein-coding gene	gene with protein product	"C-type lectin domain family 13, member A"	612246	"CD302 antigen"			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.300G>A	2.37:g.160636685C>T			160344931	A8K5G4|B4E2T9|Q15009	Silent	SNP	ENST00000259053.4	37	CCDS33308.1																																																																																				0.348	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		T	160636685	C	T	160636685	2	4	389	1	0	0	0	0	0	0	0	1	3003	871	31	1		1	CD302	2	160636685	Silent	SNP	C	TCGA-36-2539-01A-01D-1526-09	116556761	160636685	82562688	7	21202											
GTF3C3	9330	genome.wustl.edu	37	2	197653978	197653978	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr2:197653978C>A	ENST00000263956.3	-	6	932	c.843G>T	c.(841-843)ttG>ttT	p.L281F	GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Missense_Mutation_p.L281F	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	281					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAGATGGAGACAAAAGGTTTA	0.413																																																0			2											123	112	115					2																	197653978		2203	4300	6503	197362223	SO:0001583	missense	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.843G>T	2.37:g.197653978C>A	ENSP00000263956:p.Leu281Phe		197362223	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350169	0.61183	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.37752	1.18;1.18	4.87	2.92	0.33932	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000006	T	0.29882	0.0747	N	0.19112	0.55	0.53688	D	0.999974	P;D	0.57899	0.928;0.981	P;P	0.54210	0.642;0.745	T	0.02491	-1.1151	10	0.16420	T	0.52	-11.4301	9.1172	0.36764	0.0:0.7485:0.0:0.2515	.	281;281	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	F	281	ENSP00000263956:L281F;ENSP00000386465:L281F	ENSP00000263956:L281F	L	-	3	2	GTF3C3	197362223	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	1.983000	0.40648	1.289000	0.44618	0.591000	0.81541	TTG		0.413	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			A	197653978	C	A	197653978	3	1	389	1	0	0	0	0	1	0	0	0	6874	477	17	3	1869	3	GTF3C3	2	197653978	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09	37017293	197653978	45545395	8	21203											
RAPH1	65059	genome.wustl.edu	37	2	204304868	204304868	+	Silent	SNP	C	C	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr2:204304868C>T	ENST00000319170.5	-	14	3344	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.K1067K	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1015					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAGGGTCTCCTTGCTGGGAG	0.562																																																0			2											62	69	67					2																	204304868		2203	4300	6503	204013113	SO:0001819	synonymous_variant	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3045G>A	2.37:g.204304868C>T			204013113	Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																				0.562	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		T	204304868	C	T	204304868	2	4	389	1	0	0	0	0	0	0	0	1	13053	680	24	2		2	RAPH1	2	204304868	Silent	SNP	C	TCGA-36-2539-01A-01D-1526-09	6650890	204304868	38894505	9	21204											
CTLA4	1493	genome.wustl.edu	37	2	204736161	204736161	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr2:204736161G>A	ENST00000302823.3	+	3	675	c.518G>A	c.(517-519)gGg>gAg	p.G173E	CTLA4_ENST00000295854.6_Intron|CTLA4_ENST00000427473.2_Intron|CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000487393.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	173					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	GTTAGTTCGGGGTTGTTTTTT	0.478																																																0			2											199	188	192					2																	204736161		2203	4300	6503	204444406	SO:0001583	missense	1493				CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	2505	protein-coding gene	gene with protein product		123890	"celiac disease 3", "insulin-dependent diabetes mellitus 12"	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.518G>A	2.37:g.204736161G>A	ENSP00000303939:p.Gly173Glu		204444406	A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954878	0.34471	.	.	ENSG00000163599	ENST00000302823	T	0.32753	1.44	5.42	4.51	0.55191	.	0.282910	0.34652	N	0.003800	T	0.28433	0.0703	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.50825	0.651	T	0.02596	-1.1136	10	0.72032	D	0.01	-16.1986	10.4498	0.44516	0.0:0.1441:0.7066:0.1493	.	173	P16410	CTLA4_HUMAN	E	173	ENSP00000303939:G173E	ENSP00000303939:G173E	G	+	2	0	CTLA4	204444406	1.000000	0.71417	0.789000	0.31954	0.991000	0.79684	3.273000	0.51623	2.560000	0.86352	0.650000	0.86243	GGG		0.478	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		A	204736161	G	A	204736161	3	1	389	1	0	0	0	0	1	0	0	0	4011	1232	43	2	528	2	CTLA4	2	204736161	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09	431293	204736161	38463212	10	21205											
ERBB4	2066	genome.wustl.edu	37	2	212251599	212251599	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr2:212251599T>C	ENST00000342788.4	-	27	3770	c.3460A>G	c.(3460-3462)Atg>Gtg	p.M1154V	ERBB4_ENST00000402597.1_Missense_Mutation_p.M1144V|ERBB4_ENST00000436443.1_Missense_Mutation_p.M1138V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1154					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTGTCTCGCATAGGAGTCATG	0.473										TSP Lung(8;0.080)																																						0			2											179	166	170					2																	212251599		2203	4300	6503	211959844	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3460A>G	2.37:g.212251599T>C	ENSP00000342235:p.Met1154Val		211959844	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843366	0.51057	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.74209	-0.81;-0.82;-0.81	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	L	0.44542	1.39	0.58432	D	0.999996	B;B;B;B	0.17667	0.023;0.004;0.023;0.014	B;B;B;B	0.18561	0.022;0.015;0.022;0.01	T	0.61855	-0.6977	10	0.13470	T	0.59	.	15.7872	0.78315	0.0:0.0:0.0:1.0	.	1128;1144;1138;1154	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	V	1154;1138;1144	ENSP00000342235:M1154V;ENSP00000403204:M1138V;ENSP00000385565:M1144V	ENSP00000342235:M1154V	M	-	1	0	ERBB4	211959844	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.241000	0.78201	2.131000	0.65755	0.379000	0.24179	ATG		0.473	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		C	212251599	T	C	212251599	3	2	389	1	0	0	0	0	1	0	0	0	5209	1406	49	4	474	4	ERBB4	2	212251599	Missense_Mutation	SNP	T	TCGA-36-2539-01A-01D-1526-09	7515438	212251599	30947774	11	21206											
CASR	846	genome.wustl.edu	37	3	121980902	121980902	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr3:121980902G>C	ENST00000490131.1	+	4	1392	c.1020G>C	c.(1018-1020)agG>agC	p.R340S	CASR_ENST00000498619.1_Missense_Mutation_p.R340S|CASR_ENST00000296154.5_Missense_Mutation_p.R340S	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	340					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCATCCCAGGAAGTCTGTCC	0.517																																																0			3											57	56	56					3																	121980902		2203	4300	6503	123463592	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1020G>C	3.37:g.121980902G>C	ENSP00000418685:p.Arg340Ser		123463592	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	2.536	-0.307448	0.05458	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.86230	-2.09;-2.09;-2.09	6.07	-2.99	0.05497	Extracellular ligand-binding receptor (1);	0.171984	0.64402	N	0.000010	T	0.51398	0.1672	N	0.00514	-1.41	0.35985	D	0.836297	B;B	0.16603	0.0;0.018	B;B	0.15870	0.005;0.014	T	0.56098	-0.8035	10	0.02654	T	1	.	6.5648	0.22505	0.4688:0.2216:0.3096:0.0	.	340;340	E7ENE0;P41180	.;CASR_HUMAN	S	340	ENSP00000418685:R340S;ENSP00000420194:R340S;ENSP00000296154:R340S	ENSP00000296154:R340S	R	+	3	2	CASR	123463592	0.998000	0.40836	0.953000	0.39169	0.997000	0.91878	0.446000	0.21694	-0.587000	0.05890	0.655000	0.94253	AGG		0.517	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		C	121980902	G	C	121980902	3	2	389	1	0	0	0	0	1	0	0	0	2682	1165	41	3	1030	3	CASR	3	121980902	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09		121980902	76041528	12	21207											
FBXW7	55294	genome.wustl.edu	37	4	153258956	153258956	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr4:153258956C>G	ENST00000281708.4	-	5	2088	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	FBXW7_ENST00000603548.1_Missense_Mutation_p.E287Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.E287Q|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000263981.5_Missense_Mutation_p.E207Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.E169Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.E111Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	287	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCTTTACCTCTTTAGGGAGC	0.343			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											149	145	146					4																	153258956		2203	4300	6503	153478406	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.859G>C	4.37:g.153258956C>G	ENSP00000281708:p.Glu287Gln		153478406	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445532	0.84101	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.63	5.63	0.86233	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.046212	0.85682	D	0.000000	D	0.87446	0.6179	H	0.94734	3.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73380	0.971;0.98;0.966;0.966	D	0.90460	0.4445	10	0.87932	D	0	-22.6201	19.6704	0.95910	0.0:1.0:0.0:0.0	.	111;287;169;207	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	287;169;207;111	ENSP00000281708:E287Q;ENSP00000296555:E169Q;ENSP00000263981:E207Q;ENSP00000377528:E111Q	ENSP00000263981:E207Q	E	-	1	0	FBXW7	153478406	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	7.760000	0.85248	2.641000	0.89580	0.650000	0.86243	GAG		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			G	153258956	C	G	153258956	3	3	389	1	0	0	0	0	1	0	0	0	5769	922	32	3	1296	3	FBXW7	4	153258956	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09		153258956	37895320	13	21208											
DNAH5	1767	genome.wustl.edu	37	5	13788871	13788871	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr5:13788871A>C	ENST00000265104.4	-	51	8705	c.8601T>G	c.(8599-8601)atT>atG	p.I2867M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2867					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATATGTGTCAATTCCACAAT	0.413									Kartagener syndrome																																							0			5											125	122	123					5																	13788871		2203	4300	6503	13841871	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8601T>G	5.37:g.13788871A>C	ENSP00000265104:p.Ile2867Met		13841871	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.322461	0.23994	.	.	ENSG00000039139	ENST00000265104	T	0.23552	1.9	5.56	-1.73	0.08081	.	1.521690	0.03466	N	0.212939	T	0.23572	0.0570	L	0.59436	1.845	0.21652	N	0.999609	B	0.06786	0.001	B	0.14023	0.01	T	0.24764	-1.0151	10	0.46703	T	0.11	.	2.0606	0.03591	0.3375:0.3429:0.2088:0.1108	.	2867	Q8TE73	DYH5_HUMAN	M	2867	ENSP00000265104:I2867M	ENSP00000265104:I2867M	I	-	3	3	DNAH5	13841871	0.000000	0.05858	0.018000	0.16275	0.981000	0.71138	-1.053000	0.03500	-0.425000	0.07371	0.533000	0.62120	ATT		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13788871	A	C	13788871	3	2	389	1	0	0	0	0	1	0	0	0	4604	126	5	5	5389	5	DNAH5	5	13788871	Missense_Mutation	SNP	A	TCGA-36-2539-01A-01D-1526-09		13788871	167126389	14	21209											
C5orf42	65250	genome.wustl.edu	37	5	37157917	37157917	+	Splice_Site	SNP	C	C	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr5:37157917C>A	ENST00000508244.1	-	39	7906		c.e39-1		C5orf42_ENST00000274258.7_Missense_Mutation_p.Q1502H|C5orf42_ENST00000425232.2_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42							integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGGTAATTCCTGTAGAAGAT	0.368																																																0			5											79	72	75					5																	37157917		2203	4300	6503	37193674	SO:0001630	splice_region_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7813-1G>T	5.37:g.37157917C>A			37193674	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.31|13.31	2.197823|2.197823	0.38806|0.38806	.|.	.|.	ENSG00000197603|ENSG00000197603	ENST00000508244;ENST00000425232|ENST00000274258;ENST00000514429;ENST00000388739	.|T;T	.|0.24151	.|1.87;1.88	5.43|5.43	3.64|3.64	0.41730|0.41730	.|.	.|0.313409	.|0.23123	.|N	.|0.051679	.|T	.|0.12390	.|0.0301	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.17667	.|0.023	.|B	.|0.16289	.|0.015	.|T	.|0.16394	.|-1.0404	.|8	.|.	.|.	.|.	.|.	2.5498|2.5498	0.04746|0.04746	0.1569:0.4041:0.3036:0.1354|0.1569:0.4041:0.3036:0.1354	.|.	.|1502	.|Q9H799	.|CE042_HUMAN	.|H	-1|1502;1670;1502	.|ENSP00000274258:Q1502H;ENSP00000424223:Q1670H	.|.	.|Q	-|-	.|3	.|2	C5orf42|C5orf42	37193674|37193674	0.010000|0.010000	0.17322|0.17322	0.050000|0.050000	0.19076|0.19076	0.984000|0.984000	0.73092|0.73092	0.203000|0.203000	0.17315|0.17315	1.277000|1.277000	0.44412|0.44412	0.561000|0.561000	0.74099|0.74099	.|CAG		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	Intron	A	37157917	C	A	37157917	5	1	389	1	0	0	0	0	0	0	1	0	2301	695	24	3	1833	3	C5orf42	5	37157917	Splice_Site	SNP	C	TCGA-36-2539-01A-01D-1526-09	23369046	37157917	143757343	15	21210											
PSD2	84249	genome.wustl.edu	37	5	139193782	139193782	+	Silent	SNP	A	A	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr5:139193782A>T	ENST00000274710.3	+	4	1054	c.849A>T	c.(847-849)tcA>tcT	p.S283S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	283	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCCTGTCAGACTCAGACT	0.632																																																0			5											105	97	100					5																	139193782		2203	4300	6503	139173966	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.849A>T	5.37:g.139193782A>T			139173966	D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																				0.632	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		T	139193782	A	T	139193782	2	4	389	1	0	0	0	0	0	0	0	1	12650	175	7	5		5	PSD2	5	139193782	Silent	SNP	A	TCGA-36-2539-01A-01D-1526-09	102035865	139193782	41721478	16	21211											
PCDHB1	29930	genome.wustl.edu	37	5	140432711	140432711	+	Silent	SNP	C	C	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr5:140432711C>G	ENST00000306549.3	+	1	1733	c.1656C>G	c.(1654-1656)gtC>gtG	p.V552V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTGGTTGTCCTAGATGACA	0.498																																																0			5											97	94	95					5																	140432711		2203	4300	6503	140412895	SO:0001819	synonymous_variant	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1656C>G	5.37:g.140432711C>G			140412895	Q2M257	Silent	SNP	ENST00000306549.3	37	CCDS4243.1																																																																																				0.498	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		G	140432711	C	G	140432711	2	3	389	1	0	0	0	0	0	0	0	1	11534	842	30	3		3	PCDHB1	5	140432711	Silent	SNP	C	TCGA-36-2539-01A-01D-1526-09	1238929	140432711	40482549	17	21212											
FAT2	2196	genome.wustl.edu	37	5	150887122	150887122	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr5:150887122G>T	ENST00000261800.5	-	22	12122	c.12110C>A	c.(12109-12111)cCc>cAc	p.P4037H	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4037					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGATCTCGGGAGTGACTAG	0.547																																																0			5											48	45	46					5																	150887122		2203	4300	6503	150867315	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12110C>A	5.37:g.150887122G>T	ENSP00000261800:p.Pro4037His		150867315	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059218	0.36373	.	.	ENSG00000086570	ENST00000261800	T	0.74002	-0.8	5.46	4.59	0.56863	Concanavalin A-like lectin/glucanase, subgroup (1);	0.235349	0.29916	N	0.010865	T	0.80132	0.4567	M	0.66939	2.045	0.33145	D	0.544954	P;D	0.76494	0.93;0.999	P;P	0.55667	0.533;0.781	D	0.85983	0.1484	10	0.66056	D	0.02	.	11.608	0.51043	0.0819:0.0:0.9181:0.0	.	4037;1142	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	4037	ENSP00000261800:P4037H	ENSP00000261800:P4037H	P	-	2	0	FAT2	150867315	0.999000	0.42202	0.861000	0.33841	0.048000	0.14542	3.773000	0.55333	1.301000	0.44836	-0.136000	0.14681	CCC		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150887122	G	T	150887122	3	4	389	1	0	0	0	0	1	0	0	0	5690	1232	43	3	947	3	FAT2	5	150887122	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09	10454411	150887122	30028138	18	21213											
LYRM4	57128	genome.wustl.edu	37	6	5260960	5260960	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr6:5260960C>A	ENST00000330636.4	-	1	212	c.7G>T	c.(7-9)Gcc>Tcc	p.A3S	LYRM4_ENST00000464010.1_Missense_Mutation_p.A3S|LYRM4_ENST00000468929.1_Missense_Mutation_p.A3S|LYRM4_ENST00000480566.1_Missense_Mutation_p.A3S|LYRM4_ENST00000500576.2_Missense_Mutation_p.A3S|FARS2_ENST00000324331.6_5'Flank|FARS2_ENST00000274680.4_5'Flank	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	3					small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				CGACTGGAGGCTGCCATTTTG	0.557																																					NSCLC(130;1006 2426 17608 36797)											0			6											17	18	18					6																	5260960		2155	4243	6398	5205959	SO:0001583	missense	57128			AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113		"LYR motif containing"	21365	protein-coding gene	gene with protein product		613311	"chromosome 6 open reading frame 149"	C6orf149			Standard	XM_005249239		Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000330636.4:c.7G>T	6.37:g.5260960C>A	ENSP00000418787:p.Ala3Ser		5205959	A8K543|Q5XKP1	Missense_Mutation	SNP	ENST00000330636.4	37	CCDS4493.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044858	0.55110	.	.	ENSG00000214113	ENST00000468929;ENST00000330636;ENST00000464010;ENST00000480566;ENST00000500576	T;T;T;T;T	0.66815	-0.23;0.87;0.76;0.84;1.45	5.04	5.04	0.67666	.	0.220720	0.25214	U	0.032294	T	0.34803	0.0910	N	0.21545	0.675	0.33764	D	0.622243	P;B	0.34864	0.473;0.39	B;B	0.28553	0.091;0.054	T	0.39961	-0.9588	10	0.36615	T	0.2	-1.0664	13.8868	0.63712	0.0:1.0:0.0:0.0	.	3;3	C9JRX8;Q9HD34	.;LYRM4_HUMAN	S	3	ENSP00000418321:A3S;ENSP00000418787:A3S;ENSP00000420026:A3S;ENSP00000419928:A3S;ENSP00000443900:A3S	ENSP00000418787:A3S	A	-	1	0	LYRM4	5205959	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.001000	0.57046	2.342000	0.79632	0.655000	0.94253	GCC		0.557	LYRM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353461.3	NM_020408		A	5260960	C	A	5260960	3	1	389	1	0	0	0	0	1	0	0	0	9121	797	28	3	558	3	LYRM4	6	5260960	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09		5260960	165854107	19	21214											
OR2B6	26212	genome.wustl.edu	37	6	27925342	27925342	+	Silent	SNP	G	G	T	rs370729151		TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr6:27925342G>T	ENST00000244623.1	+	1	324	c.324G>T	c.(322-324)ggG>ggT	p.G108G		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCTTGGGGGCTACTGAAT	0.453																																																0			6											64	63	63					6																	27925342		2203	4299	6502	28033321	SO:0001819	synonymous_variant	26212			U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"GPCR / Class A : Olfactory receptors"	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.324G>T	6.37:g.27925342G>T			28033321	O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	CCDS4642.1																																																																																				0.453	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			T	27925342	G	T	27925342	2	4	389	1	0	0	0	0	0	0	0	1	10991	1219	43	3		3	OR2B6	6	27925342	Silent	SNP	G	TCGA-36-2539-01A-01D-1526-09	22664382	27925342	143189725	20	21215											
DPCR1	135656	genome.wustl.edu	37	6	30919553	30919553	+	Silent	SNP	T	T	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr6:30919553T>A	ENST00000462446.1	+	2	3340	c.3312T>A	c.(3310-3312)ccT>ccA	p.P1104P	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	285						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TAGCAAAGCCTACAGAACATG	0.478																																																0			6											253	224	233					6																	30919553		692	1591	2283	31027532	SO:0001819	synonymous_variant	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3312T>A	6.37:g.30919553T>A			31027532	C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	CCDS4692.2																																																																																				0.478	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		A	30919553	T	A	30919553	2	1	389	1	0	0	0	0	0	0	0	1	4712	1509	53	5		5	DPCR1	6	30919553	Silent	SNP	T	TCGA-36-2539-01A-01D-1526-09	2994211	30919553	140195514	21	21216											
MDFI	4188	genome.wustl.edu	37	6	41613925	41613925	+	Intron	SNP	G	G	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr6:41613925G>T	ENST00000373050.4	+	3	263							Q99750	MDFI_HUMAN	MyoD family inhibitor						activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACCCTGCGGAGGCAGCACCAG	0.627																																																0			6											74	68	70					6																	41613925		2203	4300	6503	41721903	SO:0001627	intron_variant	4188			U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"inhibitor of MyoD family a"	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.77-3432G>T	6.37:g.41613925G>T			41721903		Missense_Mutation	SNP	ENST00000373050.4	37		.	.	.	.	.	.	.	.	.	.	G	19.47	3.834172	0.71373	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000441667;ENST00000230321;ENST00000543326;ENST00000446650	.	.	.	5.42	4.55	0.56014	.	0.149324	0.43747	D	0.000539	T	0.26376	0.0644	L	0.60455	1.87	0.26976	N	0.965475	P	0.45715	0.865	P	0.45406	0.479	T	0.18777	-1.0326	9	0.56958	D	0.05	-34.5455	6.2443	0.20807	0.0919:0.0:0.723:0.1851	.	46	Q99750	MDFI_HUMAN	D	46	.	ENSP00000230321:E46D	E	+	3	2	MDFI	41721903	0.964000	0.33143	0.998000	0.56505	0.916000	0.54674	0.648000	0.24828	2.539000	0.85634	0.561000	0.74099	GAG		0.627	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		T	41613925	G	T	41613925	1	4	389	0	1	0	0	0	0	0	0	0	9404	991	35	3		3	MDFI	6	41613925	Intron	SNP	G	TCGA-36-2539-01A-01D-1526-09	10694372	41613925	129501142	22	21217											
KIAA0240	23506	genome.wustl.edu	37	6	42796574	42796574	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr6:42796574T>C	ENST00000314073.5	+	6	679	c.503T>C	c.(502-504)gTg>gCg	p.V168A	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.V168A			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	168																	CCTATAGGGGTGACGCATGTG	0.478																																																0			6											146	134	138					6																	42796574		2203	4300	6503	42904552	SO:0001583	missense	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.503T>C	6.37:g.42796574T>C	ENSP00000313933:p.Val168Ala		42904552	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961925	0.53400	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.39406	1.08;1.08	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000012	T	0.49304	0.1549	L	0.54323	1.7	0.49051	D	0.999747	D;P;P	0.61697	0.99;0.756;0.607	D;P;B	0.73380	0.98;0.454;0.3	T	0.38802	-0.9644	10	0.28530	T	0.3	-13.9241	16.1025	0.81194	0.0:0.0:0.0:1.0	.	168;168;168	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	A	168	ENSP00000313933:V168A;ENSP00000377723:V168A	ENSP00000313933:V168A	V	+	2	0	KIAA0240	42904552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.055000	0.49916	2.254000	0.74563	0.533000	0.62120	GTG		0.478	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		C	42796574	T	C	42796574	3	2	389	1	0	0	0	0	1	0	0	0	8164	1696	59	4	517	4	KIAA0240	6	42796574	Missense_Mutation	SNP	T	TCGA-36-2539-01A-01D-1526-09	1182649	42796574	128318493	23	21218											
CDC40	51362	genome.wustl.edu	37	6	110501769	110501769	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr6:110501769C>A	ENST00000368932.1	+	2	223	c.122C>A	c.(121-123)aCt>aAt	p.T41N	WASF1_ENST00000359451.2_5'Flank|WASF1_ENST00000392586.1_5'Flank|WASF1_ENST00000392587.2_5'Flank|WASF1_ENST00000392589.1_5'Flank|WASF1_ENST00000392588.1_5'Flank|CDC40_ENST00000307731.1_Missense_Mutation_p.T41N|CDC40_ENST00000368930.1_Missense_Mutation_p.T41N			O60508	PRP17_HUMAN	cell division cycle 40	41					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATGCACTTGACTAAATCGCCT	0.572																																																0			6											51	52	52					6																	110501769		2203	4300	6503	110608462	SO:0001583	missense	51362			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.122C>A	6.37:g.110501769C>A	ENSP00000357928:p.Thr41Asn		110608462	B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264857	0.40095	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165	T;T;T;T	0.60548	0.31;0.18;0.18;0.31	5.54	5.54	0.83059	.	0.152878	0.56097	D	0.000027	T	0.24005	0.0581	N	0.12746	0.255	0.38202	D	0.940229	B	0.02656	0.0	B	0.01281	0.0	T	0.06954	-1.0798	10	0.16896	T	0.51	-23.3123	16.5155	0.84299	0.0:1.0:0.0:0.0	.	41	O60508	PRP17_HUMAN	N	41	ENSP00000357928:T41N;ENSP00000357929:T41N;ENSP00000357926:T41N;ENSP00000304370:T41N	ENSP00000304370:T41N	T	+	2	0	CDC40	110608462	0.997000	0.39634	0.991000	0.47740	0.878000	0.50629	3.765000	0.55272	2.884000	0.98904	0.655000	0.94253	ACT		0.572	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		A	110501769	C	A	110501769	3	1	389	1	0	0	0	0	1	0	0	0	3070	565	20	3	124	3	CDC40	6	110501769	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09	67705195	110501769	60613298	24	21219											
NFE2L3	9603	genome.wustl.edu	37	7	26224974	26224974	+	Silent	SNP	T	T	C	rs374986558		TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr7:26224974T>C	ENST00000056233.3	+	4	1915	c.1656T>C	c.(1654-1656)gaT>gaC	p.D552D		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	552					transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTTCTGTAGATGAAATTGTCG	0.403																																																0			7						T		1,4405	2.1+/-5.4	0,1,2202	121	111	114		1656	-1.6	1	7		114	0,8600		0,0,4300	no	coding-synonymous	NFE2L3	NM_004289.6		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		552/695	26224974	1,13005	2203	4300	6503	26191499	SO:0001819	synonymous_variant	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1656T>C	7.37:g.26224974T>C			26191499	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	CCDS5396.1																																																																																				0.403	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			C	26224974	T	C	26224974	2	2	389	1	0	0	0	0	0	0	0	1	10369	1461	51	4		4	NFE2L3	7	26224974	Silent	SNP	T	TCGA-36-2539-01A-01D-1526-09		26224974	132913689	25	21220											
DDC	1644	genome.wustl.edu	37	7	50611679	50611679	+	Silent	SNP	G	G	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr7:50611679G>A	ENST00000444124.2	-	2	305	c.105C>T	c.(103-105)ccC>ccT	p.P35P	DDC_ENST00000380984.4_Silent_p.P35P|DDC_ENST00000426377.1_Silent_p.P35P|DDC_ENST00000357936.5_Silent_p.P35P|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Silent_p.P35P	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	35					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GCAGGTACCCGGGCTCCACGT	0.567																																																0			7											208	170	183					7																	50611679		2203	4300	6503	50579173	SO:0001819	synonymous_variant	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.105C>T	7.37:g.50611679G>A			50579173	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	4.103	0.017253	0.07959	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.92	-11.8	0.00035	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67941	-0.5540	5	.	.	.	-0.4102	10.6976	0.45907	0.3456:0.0:0.4699:0.1845	.	.	.	.	L	1	.	.	P	-	2	0	DDC	50579173	0.000000	0.05858	0.496000	0.27539	0.295000	0.27426	-3.662000	0.00400	-2.009000	0.00954	-1.708000	0.00717	CCG		0.567	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			A	50611679	G	A	50611679	2	1	389	1	0	0	0	0	0	0	0	1	4325	1103	39	1		1	DDC	7	50611679	Silent	SNP	G	TCGA-36-2539-01A-01D-1526-09	24386705	50611679	108526984	26	21221											
PDP1	54704	genome.wustl.edu	37	8	94934717	94934717	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr8:94934717G>C	ENST00000297598.4	+	2	699	c.430G>C	c.(430-432)Gat>Cat	p.D144H	PDP1_ENST00000520728.1_Missense_Mutation_p.D144H|PDP1_ENST00000517764.1_Missense_Mutation_p.D144H|PDP1_ENST00000396200.3_Missense_Mutation_p.D169H	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	144					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGGGGTTTTTGATGGCCATGC	0.478																																																0			8											58	60	60					8																	94934717		2203	4300	6503	95003893	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.430G>C	8.37:g.94934717G>C	ENSP00000297598:p.Asp144His		95003893	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829268	0.71258	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	6.03	6.03	0.97812	Protein phosphatase 2C-like (3);	0.046017	0.85682	D	0.000000	T	0.79851	0.4517	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82380	-0.0486	10	0.87932	D	0	-19.2034	20.5752	0.99366	0.0:0.0:1.0:0.0	.	195;144	B4DYX8;Q9P0J1	.;PDP1_HUMAN	H	144;144;169;144;144;144	ENSP00000297598:D144H;ENSP00000428317:D144H;ENSP00000379503:D169H;ENSP00000430380:D144H;ENSP00000430655:D144H	ENSP00000297598:D144H	D	+	1	0	PDP1	95003893	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.835000	0.99442	2.868000	0.98415	0.557000	0.71058	GAT		0.478	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		C	94934717	G	C	94934717	3	2	389	1	0	0	0	0	1	0	0	0	11685	1290	45	3	613	3	PDP1	8	94934717	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09		94934717	51429305	27	21222											
CTHRC1	115908	genome.wustl.edu	37	8	104384003	104384003	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr8:104384003C>G	ENST00000330295.5	+	1	261	c.119C>G	c.(118-120)gCg>gGg	p.A40G	CTHRC1_ENST00000415886.2_Missense_Mutation_p.A40G|CTHRC1_ENST00000520337.1_5'Flank	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	40					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			AAGCAAAAGGCGCAGCTCCGG	0.756																																																0			8											6	6	6					8																	104384003		1931	3819	5750	104453179	SO:0001583	missense	115908			BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.119C>G	8.37:g.104384003C>G	ENSP00000330523:p.Ala40Gly		104453179	G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977022	0.53720	.	.	ENSG00000164932	ENST00000330295;ENST00000415886	T;T	0.74526	-0.12;-0.85	4.75	4.75	0.60458	.	0.327017	0.27720	N	0.018124	T	0.59972	0.2233	N	0.19112	0.55	0.80722	D	1	B;B	0.34329	0.449;0.197	B;B	0.31869	0.137;0.042	T	0.61312	-0.7088	10	0.33940	T	0.23	-5.9573	14.9211	0.70838	0.0:1.0:0.0:0.0	.	40;40	E7EVQ5;Q96CG8	.;CTHR1_HUMAN	G	40	ENSP00000330523:A40G;ENSP00000416045:A40G	ENSP00000330523:A40G	A	+	2	0	CTHRC1	104453179	0.911000	0.30947	0.995000	0.50966	0.972000	0.66771	1.781000	0.38644	2.172000	0.68678	0.555000	0.69702	GCG		0.756	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		G	104384003	C	G	104384003	3	3	389	1	0	0	0	0	1	0	0	0	4010	768	27	3	121	3	CTHRC1	8	104384003	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09	9449286	104384003	41980019	28	21223											
GALT	2592	genome.wustl.edu	37	9	34648148	34648148	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr9:34648148A>G	ENST00000378842.3	+	6	586	c.544A>G	c.(544-546)Aac>Gac	p.N182D	GALT_ENST00000556278.1_Missense_Mutation_p.N97D|IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000450095.2_Missense_Mutation_p.N73D	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	182					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGGCTGTTCTAACCCCCACCC	0.522									Galactosemia																																							0			9											99	103	101					9																	34648148		2203	4300	6503	34638148	SO:0001583	missense	2592	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.544A>G	9.37:g.34648148A>G	ENSP00000368119:p.Asn182Asp		34638148	B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171782	0.78452	.	.	ENSG00000213930;ENSG00000213930;ENSG00000258728	ENST00000450095;ENST00000378842;ENST00000556278	D;D;D	0.99483	-5.99;-5.99;-5.99	4.77	4.77	0.60923	Histidine triad motif (1);Histidine triad-like motif (1);Galactose-1-phosphate uridyl transferase, N-terminal (1);	0.061993	0.64402	U	0.000007	D	0.99729	0.9894	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.99;0.978;0.996	D	0.97127	0.9815	10	0.87932	D	0	-12.7742	13.6236	0.62150	1.0:0.0:0.0:0.0	.	134;73;182	B4DT62;E7ET32;P07902	.;.;GALT_HUMAN	D	73;182;97	ENSP00000401956:N73D;ENSP00000368119:N182D;ENSP00000451792:N97D	ENSP00000368119:N182D	N	+	1	0	RP11-195F19.29;GALT	34638148	1.000000	0.71417	0.989000	0.46669	0.942000	0.58702	6.368000	0.73104	2.024000	0.59613	0.533000	0.62120	AAC		0.522	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		G	34648148	A	G	34648148	3	3	389	1	0	0	0	0	1	0	0	0	6230	362	13	4	566	4	GALT	9	34648148	Missense_Mutation	SNP	A	TCGA-36-2539-01A-01D-1526-09		34648148	106565283	29	21224											
CRAT	1384	genome.wustl.edu	37	9	131870173	131870173	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr9:131870173C>T	ENST00000318080.2	-	2	505	c.211G>A	c.(211-213)Gat>Aat	p.D71N	AL158151.2_ENST00000408594.1_RNA|CRAT_ENST00000393384.3_Missense_Mutation_p.D71N|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	71					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TGAAACTCATCCACCAGCTGC	0.652																																																0			9											88	79	82					9																	131870173		2203	4300	6503	130909994	SO:0001583	missense	1384			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.211G>A	9.37:g.131870173C>T	ENSP00000315013:p.Asp71Asn		130909994	Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.190111	0.78789	.	.	ENSG00000095321	ENST00000351352;ENST00000318080;ENST00000393384	T;T	0.41758	0.99;0.99	5.23	5.23	0.72850	.	0.378748	0.29558	N	0.011804	T	0.35537	0.0935	L	0.31065	0.9	0.47737	D	0.999509	B;B	0.26708	0.157;0.0	B;B	0.29663	0.105;0.001	T	0.09773	-1.0659	10	0.30854	T	0.27	-8.1599	17.7903	0.88550	0.0:1.0:0.0:0.0	.	71;71	A6PVN3;P43155	.;CACP_HUMAN	N	71	ENSP00000315013:D71N;ENSP00000377045:D71N	ENSP00000315013:D71N	D	-	1	0	CRAT	130909994	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	2.543000	0.45752	2.436000	0.82500	0.457000	0.33378	GAT		0.652	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			T	131870173	C	T	131870173	3	4	389	1	0	0	0	0	1	0	0	0	3847	855	30	2	1721	2	CRAT	9	131870173	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09	97222025	131870173	9343258	30	21225											
CNNM2	54805	genome.wustl.edu	37	10	104679500	104679500	+	Silent	SNP	C	C	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr10:104679500C>T	ENST00000369878.4	+	1	1451	c.1263C>T	c.(1261-1263)acC>acT	p.T421T	CNNM2_ENST00000369875.3_Silent_p.T421T|CNNM2_ENST00000433628.2_Silent_p.T421T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	421	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCGGGTCACCGATCCCTACA	0.612																																																0			10											80	79	79					10																	104679500		2203	4300	6503	104669490	SO:0001819	synonymous_variant	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1263C>T	10.37:g.104679500C>T			104669490	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	CCDS44474.1																																																																																				0.612	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		T	104679500	C	T	104679500	2	4	389	1	0	0	0	0	0	0	0	1	3613	639	23	1		1	CNNM2	10	104679500	Silent	SNP	C	TCGA-36-2539-01A-01D-1526-09		104679500	30855247	31	21226											
NLRP14	338323	genome.wustl.edu	37	11	7083733	7083733	+	Splice_Site	SNP	G	G	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr11:7083733G>T	ENST00000299481.4	+	10	3320	c.2974G>T	c.(2974-2976)Ggg>Tgg	p.G992W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	992					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCAGAGGCTCGGGTGAGTTCA	0.408																																																0			11											117	110	112					11																	7083733		2201	4296	6497	7040309	SO:0001630	splice_region_variant	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2975+1G>T	11.37:g.7083733G>T			7040309	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719245	0.48728	.	.	ENSG00000158077	ENST00000299481	T	0.51071	0.72	4.84	2.97	0.34412	.	0.193999	0.25820	N	0.028082	T	0.46756	0.1409	N	0.25789	0.76	0.34572	D	0.71356	D	0.63880	0.993	P	0.61275	0.886	T	0.58148	-0.7687	10	0.56958	D	0.05	.	6.8572	0.24048	0.2047:0.0:0.7953:0.0	.	992	Q86W24	NAL14_HUMAN	W	992	ENSP00000299481:G992W	ENSP00000299481:G992W	G	+	1	0	NLRP14	7040309	0.941000	0.31946	0.976000	0.42696	0.657000	0.38888	1.565000	0.36386	1.412000	0.46977	0.655000	0.94253	GGG		0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	Missense_Mutation	T	7083733	G	T	7083733	5	4	389	1	0	0	0	0	0	0	1	0	10476	1130	39	3	3008	3	NLRP14	11	7083733	Splice_Site	SNP	G	TCGA-36-2539-01A-01D-1526-09		7083733	127922783	32	21227											
RTN4RL2	349667	genome.wustl.edu	37	11	57235182	57235182	+	Silent	SNP	G	G	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr11:57235182G>T	ENST00000533205.1	+	2	141	c.132G>T	c.(130-132)gtG>gtT	p.V44V	RTN4RL2_ENST00000395120.2_Silent_p.V44V|RTN4RL2_ENST00000335099.3_Silent_p.V44V					reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CGCCCACCGTGAGCTGCCAGG	0.682																																																0			11											114	104	108					11																	57235182		2201	4296	6497	56991758	SO:0001819	synonymous_variant	349667			BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.132G>T	11.37:g.57235182G>T			56991758		Silent	SNP	ENST00000533205.1	37																																																																																					0.682	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570		T	57235182	G	T	57235182	2	4	389	1	0	0	0	0	0	0	0	1	13735	1277	45	3		3	RTN4RL2	11	57235182	Silent	SNP	G	TCGA-36-2539-01A-01D-1526-09	50151449	57235182	77771334	33	21228											
DDB1	1642	genome.wustl.edu	37	11	61083826	61083826	+	Silent	SNP	T	T	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr11:61083826T>C	ENST00000301764.7	-	12	1738	c.1341A>G	c.(1339-1341)gaA>gaG	p.E447E	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	447	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AACCCATCAGTTCGGTTTCTT	0.517								Nucleotide excision repair (NER)																																								0			11											201	184	189					11																	61083826		2203	4299	6502	60840402	SO:0001819	synonymous_variant	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1341A>G	11.37:g.61083826T>C			60840402	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	CCDS31576.1																																																																																				0.517	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		C	61083826	T	C	61083826	2	2	389	1	0	0	0	0	0	0	0	1	4323	1722	60	4		4	DDB1	11	61083826	Silent	SNP	T	TCGA-36-2539-01A-01D-1526-09	3848644	61083826	73922690	34	21229											
CATSPER1	117144	genome.wustl.edu	37	11	65793220	65793220	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr11:65793220G>C	ENST00000312106.5	-	1	768	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	211	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGGGGACTTGGTGATGCTGG	0.607																																																0			11											90	78	82					11																	65793220		2201	4296	6497	65549796	SO:0001583	missense	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.631C>G	11.37:g.65793220G>C	ENSP00000309052:p.Gln211Glu		65549796	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.055005	0.00390	.	.	ENSG00000175294	ENST00000312106	D	0.96459	-4.02	2.86	-5.72	0.02406	.	.	.	.	.	D	0.89086	0.6615	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.76895	-0.2790	9	0.30854	T	0.27	0.0013	1.3974	0.02264	0.2298:0.3712:0.1236:0.2755	.	211	Q8NEC5	CTSR1_HUMAN	E	211	ENSP00000309052:Q211E	ENSP00000309052:Q211E	Q	-	1	0	CATSPER1	65549796	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.445000	0.01011	-1.865000	0.01147	-0.373000	0.07131	CAA		0.607	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		C	65793220	G	C	65793220	3	2	389	1	0	0	0	0	1	0	0	0	2687	1357	47	3	1759	3	CATSPER1	11	65793220	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09	4709394	65793220	69213296	35	21230											
ZNF259	8882	genome.wustl.edu	37	11	116655120	116655120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr11:116655120C>A	ENST00000227322.3	-	9	924	c.865G>T	c.(865-867)Gag>Tag	p.E289*		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		289					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCACAGTTCTCGCAGTTGGTA	0.473																																																0			11											128	113	118					11																	116655120		2201	4296	6497	116160330	SO:0001587	stop_gained	8882																														ENST00000227322.3:c.865G>T	11.37:g.116655120C>A	ENSP00000227322:p.Glu289*		116160330	Q2TAA0	Nonsense_Mutation	SNP	ENST00000227322.3	37	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.024299|6.024299	0.97211|0.97211	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000429220	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.089131|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80369	.|0.4610	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77856	.|-0.2432	.|3	0.59425|.	D|.	0.04|.	-18.8889|-18.8889	20.3081|20.3081	0.98638|0.98638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	289|215	.|.	ENSP00000227322:E289X|.	E|R	-|-	1|2	0|0	ZNF259|ZNF259	116160330|116160330	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.731000|0.731000	0.41821|0.41821	7.398000|7.398000	0.79919|0.79919	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.473	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			A	116655120	C	A	116655120	4	1	389	1	0	0	0	0	0	1	0	0	17801	893	31	3	538	3	ZNF259	11	116655120	Nonsense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09	50861900	116655120	18351396	36	21231											
DSCAML1	57453	genome.wustl.edu	37	11	117302344	117302344	+	Silent	SNP	G	G	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr11:117302344G>T	ENST00000321322.6	-	31	5461	c.5460C>A	c.(5458-5460)cgC>cgA	p.R1820R	DSCAML1_ENST00000527706.1_Silent_p.R1550R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1760					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGTGAGGGTGCGGGCAGGTG	0.627																																																0			11											136	131	133					11																	117302344		2201	4296	6497	116807554	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5460C>A	11.37:g.117302344G>T			116807554	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117302344	G	T	117302344	2	4	389	1	0	0	0	0	0	0	0	1	4769	1306	46	3		3	DSCAML1	11	117302344	Silent	SNP	G	TCGA-36-2539-01A-01D-1526-09	647224	117302344	17704172	37	21232											
C11orf63	79864	genome.wustl.edu	37	11	122756665	122756665	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr11:122756665T>G	ENST00000531316.1	+	1	200	c.108T>G	c.(106-108)caT>caG	p.H36Q	C11orf63_ENST00000227349.2_Missense_Mutation_p.H36Q|C11orf63_ENST00000307257.6_Missense_Mutation_p.H36Q			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	36					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGACTTACATCGGATTTCAA	0.428																																																0			11											95	99	98					11																	122756665		2202	4299	6501	122261875	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.108T>G	11.37:g.122756665T>G	ENSP00000431669:p.His36Gln		122261875	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771705	0.31320	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.44083	0.93;0.93	5.91	-1.89	0.07689	.	0.750729	0.11931	N	0.515687	T	0.37544	0.1007	M	0.65975	2.015	0.09310	N	1	B;B	0.27700	0.186;0.186	B;B	0.30029	0.047;0.11	T	0.41734	-0.9492	10	0.72032	D	0.01	-4.7537	6.5902	0.22642	0.0:0.4207:0.1412:0.4382	.	36;36	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	Q	36	ENSP00000227349:H36Q;ENSP00000431669:H36Q	ENSP00000227349:H36Q	H	+	3	2	C11orf63	122261875	0.000000	0.05858	0.002000	0.10522	0.285000	0.27093	-0.772000	0.04694	-0.336000	0.08438	-0.316000	0.08728	CAT		0.428	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		G	122756665	T	G	122756665	3	3	389	1	0	0	0	0	1	0	0	0	1654	1432	50	5	110	5	C11orf63	11	122756665	Missense_Mutation	SNP	T	TCGA-36-2539-01A-01D-1526-09	5454321	122756665	12249851	38	21233											
PANX3	116337	genome.wustl.edu	37	11	124487278	124487278	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr11:124487278A>T	ENST00000284288.2	+	3	500	c.433A>T	c.(433-435)Agc>Tgc	p.S145C		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	145					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GTTCATCATCAGCGAACTGGA	0.562																																																0			11											93	77	82					11																	124487278		2201	4299	6500	123992488	SO:0001583	missense	116337			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.433A>T	11.37:g.124487278A>T	ENSP00000284288:p.Ser145Cys		123992488		Missense_Mutation	SNP	ENST00000284288.2	37	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570521	0.86542	.	.	ENSG00000154143	ENST00000284288	T	0.32272	1.46	4.92	4.92	0.64577	.	0.136022	0.64402	D	0.000005	T	0.34542	0.0901	L	0.36672	1.1	0.39371	D	0.966098	D	0.63880	0.993	P	0.57371	0.819	T	0.28964	-1.0027	10	0.66056	D	0.02	-4.9243	5.392	0.16249	0.7658:0.0:0.2342:0.0	.	145	Q96QZ0	PANX3_HUMAN	C	145	ENSP00000284288:S145C	ENSP00000284288:S145C	S	+	1	0	PANX3	123992488	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	7.088000	0.76901	1.840000	0.53500	0.374000	0.22700	AGC		0.562	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			T	124487278	A	T	124487278	3	4	389	1	0	0	0	0	1	0	0	0	11422	188	7	5	443	5	PANX3	11	124487278	Missense_Mutation	SNP	A	TCGA-36-2539-01A-01D-1526-09	1730613	124487278	10519238	39	21234											
ARHGAP32	9743	genome.wustl.edu	37	11	128839371	128839371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr11:128839371G>A	ENST00000310343.9	-	22	5694	c.5695C>T	c.(5695-5697)Cag>Tag	p.Q1899*	ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1550*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1550*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1899	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCAGCTCCCTGGGGATAAGGG	0.532																																																0			11											80	79	79					11																	128839371		2201	4297	6498	128344581	SO:0001587	stop_gained	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5695C>T	11.37:g.128839371G>A	ENSP00000310561:p.Gln1899*		128344581	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	40	8.291575	0.98745	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.84	3.82	0.43975	.	0.729658	0.13041	N	0.418497	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5937	0.39561	0.0805:0.144:0.7756:0.0	.	.	.	.	X	1899;1550;1550	.	ENSP00000310561:Q1899X	Q	-	1	0	ARHGAP32	128344581	0.576000	0.26700	0.982000	0.44146	0.847000	0.48162	1.058000	0.30504	2.760000	0.94817	0.655000	0.94253	CAG		0.532	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		A	128839371	G	A	128839371	4	1	389	1	0	0	0	0	0	1	0	0	881	1357	47	2	572	2	ARHGAP32	11	128839371	Nonsense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09	4352093	128839371	6167145	40	21235											
HIP1R	9026	genome.wustl.edu	37	12	123344702	123344702	+	Missense_Mutation	SNP	G	G	A	rs368260275	byFrequency	TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr12:123344702G>A	ENST00000253083.4	+	26	2629	c.2504G>A	c.(2503-2505)cGg>cAg	p.R835Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	835	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGGCTATCCGGCTCCTGGTG	0.647											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0	0	5008	,	,		16548	0.002		0	False		,,,				2504	0															0			12						G	GLN/ARG	2,4378		0,2,2188	21	18	19		2504	5.3	1	12		19	0,8584		0,0,4292	no	missense	HIP1R	NM_003959.1	43	0,2,6480	AA,AG,GG		0.0,0.0457,0.0154	probably-damaging	835/1069	123344702	2,12962	2190	4292	6482	121910655	SO:0001583	missense	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2504G>A	12.37:g.123344702G>A	ENSP00000253083:p.Arg835Gln	1526	121910655	A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386999	0.61956	4.57E-4	0.0	ENSG00000130787	ENST00000253083	T	0.29917	1.55	5.33	5.33	0.75918	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	N	0.17631	0.505	0.80722	D	1	P	0.45715	0.865	B	0.33121	0.158	T	0.06267	-1.0836	10	0.15952	T	0.53	-53.4231	18.63	0.91357	0.0:0.0:1.0:0.0	.	835	O75146	HIP1R_HUMAN	Q	835	ENSP00000253083:R835Q	ENSP00000253083:R835Q	R	+	2	0	HIP1R	121910655	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.084000	0.64462	2.486000	0.83907	0.655000	0.94253	CGG		0.647	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		A	123344702	G	A	123344702	3	1	389	1	0	0	0	0	1	0	0	0	7115	1116	39	1	2606	1	HIP1R	12	123344702	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09		123344702	10507193	41	21236											
ATP11A	23250	genome.wustl.edu	37	13	113481088	113481088	+	Silent	SNP	C	C	A	rs144248225	byFrequency	TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr13:113481088C>A	ENST00000487903.1	+	12	1192	c.1104C>A	c.(1102-1104)gtC>gtA	p.V368V	ATP11A_ENST00000375630.2_Silent_p.V368V|ATP11A_ENST00000283558.8_Silent_p.V368V|ATP11A_ENST00000375645.3_Silent_p.V368V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	368					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGTCACGGTCGAGATGCAGA	0.542																																																0			13											142	123	129					13																	113481088		2203	4300	6503	112529089	SO:0001819	synonymous_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1104C>A	13.37:g.113481088C>A			112529089	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	2.514	-0.312295	0.05422	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.37	-3.46	0.04767	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6871	0.12762	0.1916:0.379:0.3387:0.0907	.	.	.	.	X	343	.	.	S	+	2	0	ATP11A	112529089	0.988000	0.35896	0.674000	0.29902	0.147000	0.21601	0.128000	0.15810	-0.335000	0.08451	-0.321000	0.08615	TCG		0.542	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113481088	C	A	113481088	2	1	389	1	0	0	0	0	0	0	0	1	1119	871	31	3		3	ATP11A	13	113481088	Silent	SNP	C	TCGA-36-2539-01A-01D-1526-09		113481088	1688790	42	21237											
THTPA	79178	genome.wustl.edu	37	14	24026133	24026133	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr14:24026133G>A	ENST00000288014.6	+	1	903	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	THTPA_ENST00000554970.1_Missense_Mutation_p.R56Q|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.R56Q|THTPA_ENST00000554789.1_Missense_Mutation_p.R56Q|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.R56Q			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	56	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		TGGCTGCGACGACGAGAGGAT	0.577																																																0			14											66	53	57					14																	24026133		2203	4300	6503	23095973	SO:0001583	missense	79178			AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.167G>A	14.37:g.24026133G>A	ENSP00000288014:p.Arg56Gln		23095973	D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	G	9.612	1.131603	0.21041	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.91	0.559	0.17272	CYTH domain (2);CYTH-like domain (1);	0.851332	0.11028	N	0.607554	T	0.15955	0.0384	N	0.05158	-0.105	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21518	-1.0243	10	0.19147	T	0.46	-1.673	0.7514	0.00991	0.4461:0.162:0.2362:0.1558	.	56;56	G3V4J3;Q9BU02	.;THTPA_HUMAN	Q	56	ENSP00000384580:R56Q;ENSP00000288014:R56Q;ENSP00000452281:R56Q;ENSP00000451835:R56Q;ENSP00000452465:R56Q;ENSP00000450459:R56Q	ENSP00000288014:R56Q	R	+	2	0	THTPA	23095973	0.009000	0.17119	0.783000	0.31826	0.915000	0.54546	0.573000	0.23699	0.105000	0.17753	-0.290000	0.09829	CGA		0.577	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			A	24026133	G	A	24026133	3	1	389	1	0	0	0	0	1	0	0	0	15881	1058	37	1	169	1	THTPA	14	24026133	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09		24026133	83323407	43	21238											
PLEKHG3	26030	genome.wustl.edu	37	14	65199547	65199547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr14:65199547G>T	ENST00000394691.1	+	12	1420	c.1273G>T	c.(1273-1275)Gag>Tag	p.E425*	PLEKHG3_ENST00000247226.7_Nonsense_Mutation_p.E369*			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	425							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGCAGCCCAGAGCGGCTGAA	0.592																																																0			14											40	32	34					14																	65199547		2203	4299	6502	64269300	SO:0001587	stop_gained	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1273G>T	14.37:g.65199547G>T	ENSP00000378183:p.Glu425*		64269300	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Nonsense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	G	42	9.384410	0.99155	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	.	.	.	5.62	5.62	0.85841	.	0.136151	0.47093	D	0.000258	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.413	0.90558	0.0:0.0:1.0:0.0	.	.	.	.	X	369;425	.	ENSP00000247226:E369X	E	+	1	0	PLEKHG3	64269300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.742000	0.91588	2.651000	0.90000	0.561000	0.74099	GAG		0.592	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		T	65199547	G	T	65199547	4	4	389	1	0	0	0	0	0	1	0	0	12070	943	33	3	1139	3	PLEKHG3	14	65199547	Nonsense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09	41173414	65199547	42149993	44	21239											
SIPA1L1	26037	genome.wustl.edu	37	14	72205868	72205868	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr14:72205868A>T	ENST00000555818.1	+	22	5753	c.5405A>T	c.(5404-5406)gAc>gTc	p.D1802V	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1780V|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1781V|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1255V|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1802					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AACACCATAGACATGAGCTAG	0.557																																																0			14											78	76	77					14																	72205868		2203	4300	6503	71275621	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5405A>T	14.37:g.72205868A>T	ENSP00000450832:p.Asp1802Val		71275621	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.806998	0.90623	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	D;D;D;D	0.91945	-2.06;-2.13;-2.06;-2.94	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95072	0.8404	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.999;0.994;0.98;0.999;0.994	D	0.95553	0.8622	10	0.87932	D	0	-31.0419	15.9374	0.79723	1.0:0.0:0.0:0.0	.	1255;1801;1255;1781;1802	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	V	1781;1802;1780;1255	ENSP00000370630:D1781V;ENSP00000450832:D1802V;ENSP00000351352:D1780V;ENSP00000440682:D1255V	ENSP00000351352:D1802V	D	+	2	0	SIPA1L1	71275621	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.277000	0.95755	2.228000	0.72767	0.533000	0.62120	GAC		0.557	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		T	72205868	A	T	72205868	3	4	389	1	0	0	0	0	1	0	0	0	14332	275	10	5	5487	5	SIPA1L1	14	72205868	Missense_Mutation	SNP	A	TCGA-36-2539-01A-01D-1526-09	7006321	72205868	35143672	45	21240											
RBM25	58517	genome.wustl.edu	37	14	73569920	73569920	+	Silent	SNP	C	C	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr14:73569920C>G	ENST00000261973.7	+	10	1173	c.888C>G	c.(886-888)ggC>ggG	p.G296G	RBM25_ENST00000527432.1_Silent_p.G296G	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	296	Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		aagagaaaggcaaaaaggaaa	0.438																																																0			14											47	47	47					14																	73569920		2203	4300	6503	72639673	SO:0001819	synonymous_variant	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.888C>G	14.37:g.73569920C>G			72639673	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	CCDS32113.1																																																																																				0.438	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		G	73569920	C	G	73569920	2	3	389	1	0	0	0	0	0	0	0	1	13128	697	25	3		3	RBM25	14	73569920	Silent	SNP	C	TCGA-36-2539-01A-01D-1526-09	1364052	73569920	33779620	46	21241											
FLRT2	23768	genome.wustl.edu	37	14	86088906	86088906	+	Missense_Mutation	SNP	G	G	A	rs138508218	byFrequency	TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr14:86088906G>A	ENST00000330753.4	+	2	1815	c.1048G>A	c.(1048-1050)Gtc>Atc	p.V350I	FLRT2_ENST00000554746.1_Missense_Mutation_p.V350I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	350	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGGGATGGCCGTCAGGGAATT	0.532													G|||	4	0.000798722	0	0.0029	5008	,	,		15848	0		0.002	False		,,,				2504	0															0			14						G	ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	99	110	107		1048	6.1	1	14	dbSNP_134	107	6,8594	5.0+/-18.6	0,6,4294	yes	missense	FLRT2	NM_013231.4	29	0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615	benign	350/661	86088906	8,12998	2203	4300	6503	85158659	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1048G>A	14.37:g.86088906G>A	ENSP00000332879:p.Val350Ile		85158659	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.646	-0.072460	0.07228	4.54E-4	6.98E-4	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.02446	4.29;4.29	6.07	6.07	0.98685	Cysteine-rich flanking region, C-terminal (1);	0.056273	0.64402	D	0.000001	T	0.01730	0.0055	N	0.02721	-0.515	0.47123	D	0.999324	B	0.20459	0.045	B	0.09377	0.004	T	0.48811	-0.9002	10	0.02654	T	1	-22.7057	20.6439	0.99570	0.0:0.0:1.0:0.0	.	350	O43155	FLRT2_HUMAN	I	350;350;3	ENSP00000332879:V350I;ENSP00000451050:V350I	ENSP00000332879:V350I	V	+	1	0	FLRT2	85158659	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	6.135000	0.71696	2.884000	0.98904	0.655000	0.94253	GTC		0.532	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			A	86088906	G	A	86088906	3	1	389	1	0	0	0	0	1	0	0	0	5939	1145	40	1	1050	1	FLRT2	14	86088906	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09	12518986	86088906	21260634	47	21242											
MESDC2	23184	genome.wustl.edu	37	15	81274487	81274487	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr15:81274487G>A	ENST00000261758.4	-	2	336	c.250C>T	c.(250-252)Cac>Tac	p.H84Y		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	84	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						GGTCTCTTGTGCTCTGGAAGA	0.418																																																0			15											187	165	172					15																	81274487		2203	4300	6503	79061542	SO:0001583	missense	23184			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.250C>T	15.37:g.81274487G>A	ENSP00000261758:p.His84Tyr		79061542	B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497910	0.64186	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.19	5.19	0.71726	.	0.048575	0.85682	D	0.000000	T	0.78155	0.4239	M	0.69823	2.125	0.80722	D	1	P	0.49635	0.926	D	0.63283	0.913	T	0.80365	-0.1413	9	0.72032	D	0.01	-15.5508	18.7296	0.91730	0.0:0.0:1.0:0.0	.	84	Q14696	MESD_HUMAN	Y	84	.	ENSP00000261758:H84Y	H	-	1	0	MESDC2	79061542	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	9.389000	0.97243	2.416000	0.81992	0.555000	0.69702	CAC		0.418	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		A	81274487	G	A	81274487	3	1	389	1	0	0	0	0	1	0	0	0	9481	1319	46	2	462	2	MESDC2	15	81274487	Missense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09		81274487	21256905	48	21243											
BCMO1	53630	genome.wustl.edu	37	16	81320920	81320920	+	Silent	SNP	C	C	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr16:81320920C>G	ENST00000258168.2	+	10	1784	c.1323C>G	c.(1321-1323)ctC>ctG	p.L441L	BCMO1_ENST00000425577.2_Silent_p.L372L	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ATGACATTCTCACAAAGTCAT	0.443																																																0			16											87	89	89					16																	81320920		2202	4300	6502	79878421	SO:0001819	synonymous_variant	53630																														ENST00000258168.2:c.1323C>G	16.37:g.81320920C>G			79878421		Silent	SNP	ENST00000258168.2	37	CCDS10934.1																																																																																				0.443	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			G	81320920	C	G	81320920	2	3	389	1	0	0	0	0	0	0	0	1	1384	813	29	3		3	BCMO1	16	81320920	Silent	SNP	C	TCGA-36-2539-01A-01D-1526-09		81320920	9033833	49	21244											
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	17	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	7518937	SO:0001587	stop_gained	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		7518937	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578212	G	A	7578212	4	1	389	1	0	0	0	0	0	1	0	0	16381	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-36-2539-01A-01D-1526-09		7578212	73616998	50	21245											
MPO	4353	genome.wustl.edu	37	17	56357338	56357338	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr17:56357338T>G	ENST00000225275.3	-	3	462	c.286A>C	c.(286-288)Atg>Ctg	p.M96L	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.M96L	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	96					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGGAGTTCCATGGGGCTGGCT	0.627																																																0			17											31	35	33					17																	56357338		2203	4300	6503	53712337	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.286A>C	17.37:g.56357338T>G	ENSP00000225275:p.Met96Leu		53712337	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742365	0.30865	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.69175	-0.38;-0.32	5.24	5.24	0.73138	.	0.639075	0.16786	N	0.199565	T	0.59702	0.2213	L	0.59436	1.845	0.23841	N	0.996699	B	0.06786	0.001	B	0.04013	0.001	T	0.47341	-0.9125	10	0.21540	T	0.41	-33.7565	9.6904	0.40125	0.1547:0.0:0.0:0.8453	.	96	P05164	PERM_HUMAN	L	96	ENSP00000344419:M96L;ENSP00000225275:M96L	ENSP00000225275:M96L	M	-	1	0	MPO	53712337	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	0.879000	0.28146	1.988000	0.58038	0.459000	0.35465	ATG		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			G	56357338	T	G	56357338	3	3	389	1	0	0	0	0	1	0	0	0	9732	1464	51	5	1991	5	MPO	17	56357338	Missense_Mutation	SNP	T	TCGA-36-2539-01A-01D-1526-09	48779126	56357338	24837872	51	21246											
UBE2O	63893	genome.wustl.edu	37	17	74396252	74396252	+	Missense_Mutation	SNP	C	C	A	rs200685368		TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr17:74396252C>A	ENST00000319380.7	-	8	1195	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	377					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGCCCTCCCCCTGGGCGCAGT	0.562																																																0			17											67	64	65					17																	74396252		2203	4300	6503	71907847	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1131G>T	17.37:g.74396252C>A	ENSP00000323687:p.Gln377His		71907847	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225008	0.39300	.	.	ENSG00000175931	ENST00000319380	T	0.72942	-0.7	4.74	4.74	0.60224	.	0.089830	0.46758	D	0.000278	T	0.50240	0.1604	N	0.08118	0	0.30964	N	0.723328	B	0.06786	0.001	B	0.04013	0.001	T	0.54268	-0.8319	10	0.45353	T	0.12	-14.1022	12.2264	0.54463	0.0:0.9178:0.0:0.0822	.	377	Q9C0C9	UBE2O_HUMAN	H	377	ENSP00000323687:Q377H	ENSP00000323687:Q377H	Q	-	3	2	UBE2O	71907847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.730000	0.38125	2.196000	0.70406	0.561000	0.74099	CAG		0.562	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		A	74396252	C	A	74396252	3	1	389	1	0	0	0	0	1	0	0	0	16868	680	24	3	2791	3	UBE2O	17	74396252	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09	18038914	74396252	6798958	52	21247											
SLC14A2	8170	genome.wustl.edu	37	18	43243869	43243869	+	Nonsense_Mutation	SNP	A	A	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr18:43243869A>T	ENST00000255226.6	+	11	2287	c.1471A>T	c.(1471-1473)Aaa>Taa	p.K491*	SLC14A2_ENST00000589658.1_5'Flank|SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.K491*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	491					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGAGGAGCAAAGGTGTGCA	0.557																																																0			18											105	66	79					18																	43243869		2203	4300	6503	41497867	SO:0001587	stop_gained	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1471A>T	18.37:g.43243869A>T	ENSP00000255226:p.Lys491*		41497867	A8K8Q7|Q2TBD6|Q96PH5	Nonsense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	46	12.599660	0.99681	.	.	ENSG00000132874	ENST00000255226	.	.	.	5.35	5.35	0.76521	.	0.509754	0.19934	N	0.102789	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9545	11.7408	0.51792	1.0:0.0:0.0:0.0	.	.	.	.	X	491	.	ENSP00000255226:K491X	K	+	1	0	SLC14A2	41497867	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.247000	0.58750	2.020000	0.59435	0.533000	0.62120	AAA		0.557	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			T	43243869	A	T	43243869	4	4	389	1	0	0	0	0	0	1	0	0	14400	131	5	5	1509	5	SLC14A2	18	43243869	Nonsense_Mutation	SNP	A	TCGA-36-2539-01A-01D-1526-09		43243869	34833379	53	21248											
FCGBP	8857	genome.wustl.edu	37	19	40357690	40357690	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr19:40357690C>A	ENST00000221347.6	-	34	15630	c.15623G>T	c.(15622-15624)tGc>tTc	p.C5208F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5208	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCTGCCTGGCATGTCAGGCC	0.617																																																0			19											71	57	62					19																	40357690		2203	4300	6503	45049530	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15623G>T	19.37:g.40357690C>A	ENSP00000221347:p.Cys5208Phe		45049530	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963787	0.92791	.	.	ENSG00000090920	ENST00000221347	T	0.61392	0.11	4.69	4.69	0.59074	Follistatin-like, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.79730	0.4496	M	0.91406	3.205	0.28345	N	0.921188	D	0.89917	1.0	D	0.97110	1.0	T	0.76366	-0.2985	10	0.87932	D	0	.	12.9978	0.58657	0.0:1.0:0.0:0.0	.	5208	Q9Y6R7	FCGBP_HUMAN	F	5208	ENSP00000221347:C5208F	ENSP00000221347:C5208F	C	-	2	0	FCGBP	45049530	0.998000	0.40836	0.777000	0.31699	0.962000	0.63368	3.798000	0.55522	2.428000	0.82296	0.655000	0.94253	TGC		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40357690	C	A	40357690	3	1	389	1	0	0	0	0	1	0	0	0	5778	710	25	3	606	3	FCGBP	19	40357690	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09		40357690	18771293	54	21249											
CPT1C	126129	genome.wustl.edu	37	19	50208013	50208013	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr19:50208013C>T	ENST00000392518.4	+	8	1112	c.740C>T	c.(739-741)cCg>cTg	p.P247L	CPT1C_ENST00000405931.2_Missense_Mutation_p.P247L|CPT1C_ENST00000598293.1_Missense_Mutation_p.P247L|CPT1C_ENST00000323446.5_Missense_Mutation_p.P247L|CPT1C_ENST00000354199.5_Missense_Mutation_p.P247L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	247					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCCCGAAATCCGCTGATGGTG	0.602																																																0			19											57	54	55					19																	50208013		2203	4300	6503	54899825	SO:0001583	missense	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.740C>T	19.37:g.50208013C>T	ENSP00000376303:p.Pro247Leu		54899825	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866061	0.91511	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.14	4.14	0.48551	.	0.595761	0.14014	N	0.347272	D	0.96984	0.9015	M	0.78344	2.41	0.58432	D	0.999999	D;D;D;P	0.76494	0.999;0.986;0.992;0.929	D;B;P;D	0.71184	0.972;0.387;0.852;0.909	D	0.97066	0.9774	10	0.87932	D	0	-5.0805	15.5481	0.76123	0.0:1.0:0.0:0.0	.	85;247;247;247	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	L	247;247;247;247;85	ENSP00000376303:P247L;ENSP00000346138:P247L;ENSP00000384465:P247L;ENSP00000319343:P247L	ENSP00000295404:P85L	P	+	2	0	CPT1C	54899825	0.986000	0.35501	0.604000	0.28916	0.979000	0.70002	7.115000	0.77110	2.025000	0.59659	0.561000	0.74099	CCG		0.602	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		T	50208013	C	T	50208013	3	4	389	1	0	0	0	0	1	0	0	0	3833	652	23	1	762	1	CPT1C	19	50208013	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09	9850323	50208013	8920970	55	21250											
ADNP	23394	genome.wustl.edu	37	20	49510368	49510368	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr20:49510368C>G	ENST00000396029.3	-	5	1450	c.883G>C	c.(883-885)Gtc>Ctc	p.V295L	ADNP_ENST00000371602.4_Missense_Mutation_p.V295L|ADNP_ENST00000396032.3_Missense_Mutation_p.V295L|ADNP_ENST00000349014.3_Missense_Mutation_p.V295L	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	295					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AAAGACCGGACATTTCCAGAA	0.473																																																0			20											157	130	139					20																	49510368		2203	4300	6503	48943775	SO:0001583	missense	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.883G>C	20.37:g.49510368C>G	ENSP00000379346:p.Val295Leu		48943775	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448137	0.43429	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.91	3.99	0.46301	.	0.290362	0.39615	N	0.001320	T	0.61337	0.2339	L	0.48642	1.525	0.40966	D	0.98466	P	0.42456	0.78	P	0.53266	0.722	T	0.56353	-0.7993	9	0.23302	T	0.38	-13.1802	12.6049	0.56516	0.0:0.866:0.0:0.134	.	295	Q9H2P0	ADNP_HUMAN	L	295	.	ENSP00000342905:V295L	V	-	1	0	ADNP	48943775	0.975000	0.34042	0.908000	0.35775	0.974000	0.67602	2.319000	0.43788	0.851000	0.35264	-0.140000	0.14226	GTC		0.473	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		G	49510368	C	G	49510368	3	3	389	1	0	0	0	0	1	0	0	0	323	478	17	3	2429	3	ADNP	20	49510368	Missense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09		49510368	13515152	56	21251											
TIAM1	7074	genome.wustl.edu	37	21	32492754	32492754	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr21:32492754T>A	ENST00000286827.3	-	29	5179	c.4708A>T	c.(4708-4710)Agc>Tgc	p.S1570C	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1510C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1570					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACTTCCTCGCTTGCGCTCTCC	0.567																																																0			21											77	71	73					21																	32492754		2203	4300	6503	31414625	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4708A>T	21.37:g.32492754T>A	ENSP00000286827:p.Ser1570Cys		31414625	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820241	0.50633	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.43688	0.94;0.96	4.95	1.13	0.20643	.	0.294132	0.30142	N	0.010316	T	0.28134	0.0694	N	0.22421	0.69	0.09310	N	1	P;P	0.50156	0.932;0.89	B;B	0.43331	0.416;0.215	T	0.14559	-1.0468	10	0.48119	T	0.1	.	9.3605	0.38192	0.0:0.2996:0.0:0.7004	.	1510;1570	F5GZ53;Q13009	.;TIAM1_HUMAN	C	1570;1510	ENSP00000286827:S1570C;ENSP00000441570:S1510C	ENSP00000286827:S1570C	S	-	1	0	TIAM1	31414625	0.025000	0.19082	0.108000	0.21378	0.267000	0.26476	0.585000	0.23879	-0.029000	0.13827	0.533000	0.62120	AGC		0.567	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		A	32492754	T	A	32492754	3	1	389	1	0	0	0	0	1	0	0	0	15890	1609	56	5	71	5	TIAM1	21	32492754	Missense_Mutation	SNP	T	TCGA-36-2539-01A-01D-1526-09		32492754	15637141	57	21252											
CRYZL1	9946	genome.wustl.edu	37	21	34974579	34974579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr21:34974579C>A	ENST00000381554.3	-	8	623	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.E180*|CRYZL1_ENST00000445393.1_Nonsense_Mutation_p.E142*|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.E165*|CRYZL1_ENST00000361534.2_Nonsense_Mutation_p.E204*|AP000304.12_ENST00000429238.1_Intron	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	180					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						TGCTTATCTTCAAGGCTGCAT	0.383																																																0			21											164	151	155					21																	34974579		2203	4300	6503	33896449	SO:0001587	stop_gained	9946			AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"quinone reductase-like 1"	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.538G>T	21.37:g.34974579C>A	ENSP00000370966:p.Glu180*		33896449	B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Nonsense_Mutation	SNP	ENST00000381554.3	37	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.610536|4.610536	0.87258|0.87258	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000414079;ENST00000426935;ENST00000431177|ENST00000440526	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.156445|.	0.56097|.	D|.	0.000029|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.72032|.	D|.	0.01|.	-24.3176|-24.3176	15.5569|15.5569	0.76203|0.76203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	180;165;180;142;204;180;40;128;180|123	.|.	ENSP00000290244:E165X|.	E|X	-|-	1|2	0|2	CRYZL1|CRYZL1	33896449|33896449	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	5.280000|5.280000	0.65603|0.65603	2.455000|2.455000	0.83008|0.83008	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.383	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		A	34974579	C	A	34974579	4	1	389	1	0	0	0	0	0	1	0	0	3923	835	29	3	535	3	CRYZL1	21	34974579	Nonsense_Mutation	SNP	C	TCGA-36-2539-01A-01D-1526-09	2481825	34974579	13155316	58	21253											
SLC37A1	54020	genome.wustl.edu	37	21	43984817	43984817	+	Splice_Site	SNP	G	G	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr21:43984817G>A	ENST00000352133.2	+	14	2117		c.e14-1		SLC37A1_ENST00000398341.3_Splice_Site|AP001625.6_ENST00000442605.1_RNA			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1						carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CTCCGTTGCAGGTGGGATCCT	0.662																																																0			21											81	81	81					21																	43984817		2203	4300	6503	42857886	SO:0001630	splice_region_variant	54020			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.1136-1G>A	21.37:g.43984817G>A			42857886	D3DSJ7|Q9HAQ1	Splice_Site	SNP	ENST00000352133.2	37	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363938	0.41902	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC37A1	42857886	1.000000	0.71417	0.999000	0.59377	0.284000	0.27059	8.592000	0.90828	1.987000	0.57996	0.462000	0.41574	.		0.662	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1		Intron	A	43984817	G	A	43984817	5	1	389	1	0	0	0	0	0	0	1	0	14600	1014	35	2	1185	2	SLC37A1	21	43984817	Splice_Site	SNP	G	TCGA-36-2539-01A-01D-1526-09	9010238	43984817	4145078	59	21254											
NF2	4771	genome.wustl.edu	37	22	30090740	30090740	+	Splice_Site	SNP	G	G	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chr22:30090740G>C	ENST00000338641.4	+	16	2178		c.e16-1		NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000413209.2_Splice_Site|NF2_ENST00000347330.5_Splice_Site|NF2_ENST00000353887.4_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTTTCTTACAGCTCACCTTGC	0.592			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	1	Unknown(1)	stomach(1)	22	GRCh37	CS961646	NF2	S							70	60	64					22																	30090740		2203	4300	6503	28420740	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1738-1G>C	22.37:g.30090740G>C			28420740	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033027	0.54896	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000397822	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7093	0.69215	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28420740	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	6.374000	0.73132	2.551000	0.86045	0.491000	0.48974	.		0.592	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	C	30090740	G	C	30090740	5	2	389	1	0	0	0	0	0	0	1	0	10357	985	34	3	1839	3	NF2	22	30090740	Splice_Site	SNP	G	TCGA-36-2539-01A-01D-1526-09		30090740	21213826	60	21255											
CXorf41	139212	genome.wustl.edu	37	X	106466001	106466001	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chrX:106466001T>C	ENST00000372453.3	+	5	421	c.359T>C	c.(358-360)gTg>gCg	p.V120A	PIH1D3_ENST00000535523.1_Missense_Mutation_p.V120A|PIH1D3_ENST00000336387.4_Missense_Mutation_p.V120A	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	120																	AGACAGCAGGTGGGAACTGAA	0.378																																																0			X											132	129	130					X																	106466001		2203	4300	6503	106352657	SO:0001583	missense	139212			AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"sarcoma antigen NY-SAR-97"		"chromosome X open reading frame 41"	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.359T>C	X.37:g.106466001T>C	ENSP00000361531:p.Val120Ala		106352657	D3DUX5|Q86WE1	Missense_Mutation	SNP	ENST00000372453.3	37	CCDS14528.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696216	0.48202	.	.	ENSG00000080572	ENST00000372453;ENST00000535523;ENST00000336387	T;T;T	0.20738	2.05;2.05;2.05	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	M	0.87269	2.87	0.53688	D	0.99997	D	0.89917	1.0	D	0.79784	0.993	T	0.57929	-0.7726	10	0.87932	D	0	0.0403	11.742	0.51799	0.0:0.0:0.0:1.0	.	120	Q9NQM4	CX041_HUMAN	A	120	ENSP00000361531:V120A;ENSP00000441930:V120A;ENSP00000337757:V120A	ENSP00000337757:V120A	V	+	2	0	CXorf41	106352657	1.000000	0.71417	0.975000	0.42487	0.209000	0.24338	4.640000	0.61368	1.674000	0.50907	0.486000	0.48141	GTG		0.378	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057832.1	NM_173494		C	106466001	T	C	106466001	3	2	389	1	0	0	0	0	1	0	0	0	4110	1696	59	4	373	4	CXorf41	23	106466001	Missense_Mutation	SNP	T	TCGA-36-2539-01A-01D-1526-09		106466001	48804559	61	21256											
SLC25A43	203427	genome.wustl.edu	37	X	118544163	118544163	+	Silent	SNP	G	G	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chrX:118544163G>A	ENST00000217909.7	+	3	872	c.528G>A	c.(526-528)ccG>ccA	p.P176P	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Intron	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	176					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						GTGCTCTCCCGTTCTCTGCTG	0.507																																																0			X											149	132	138					X																	118544163		2203	4300	6503	118428191	SO:0001819	synonymous_variant	203427			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"Solute carriers"	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.528G>A	X.37:g.118544163G>A			118428191	O75854|Q8N9L5	Silent	SNP	ENST00000217909.7	37	CCDS14577.1																																																																																				0.507	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		A	118544163	G	A	118544163	2	1	389	1	0	0	0	0	0	0	0	1	14511	1132	40	1		1	SLC25A43	23	118544163	Silent	SNP	G	TCGA-36-2539-01A-01D-1526-09	12078162	118544163	36726397	62	21257											
USP26	83844	genome.wustl.edu	37	X	132162152	132162152	+	Nonsense_Mutation	SNP	T	T	A			TCGA-36-2539-01A-01D-1526-09	TCGA-36-2539-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df50e3ca-95af-4da4-a694-95572185a36a	f97d6470-9722-4ce9-8fa5-d7e120e125e6	g.chrX:132162152T>A	ENST00000511190.1	-	6	566	c.97A>T	c.(97-99)Aag>Tag	p.K33*	USP26_ENST00000406273.1_Nonsense_Mutation_p.K33*|USP26_ENST00000370832.1_Nonsense_Mutation_p.K33*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	33					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTTCTTCTTTCTTTCCACT	0.373																																					NSCLC(104;342 1621 36940 47097 52632)											0			X											62	63	62					X																	132162152		2202	4295	6497	131989818	SO:0001587	stop_gained	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.97A>T	X.37:g.132162152T>A	ENSP00000423390:p.Lys33*		131989818	B9WRT6|Q5H9H4	Nonsense_Mutation	SNP	ENST00000511190.1	37	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.645010	0.67358	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	.	.	.	4.15	0.361	0.16107	.	0.686384	0.12021	N	0.506896	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-5.5231	3.4011	0.07324	0.0:0.2218:0.2005:0.5776	.	.	.	.	X	33	.	ENSP00000359869:K33X	K	-	1	0	USP26	131989818	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.022000	0.13511	-0.036000	0.13669	-1.698000	0.00723	AAG		0.373	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		A	132162152	T	A	132162152	4	1	389	1	0	0	0	0	0	1	0	0	17057	1850	64	5	2647	5	USP26	23	132162152	Nonsense_Mutation	SNP	T	TCGA-36-2539-01A-01D-1526-09	13617989	132162152	23108408	63	21258											
LRWD1	222229	genome.wustl.edu	37	7	102113192	102113192	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr7:102113192G>A	ENST00000292616.5	+	14	1896	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	582					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCTCTACGACGTCAGCAACAT	0.657																																																0			7											39	39	39					7																	102113192		2203	4300	6503	101900197	SO:0001583	missense	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1744G>A	7.37:g.102113192G>A	ENSP00000292616:p.Val582Ile		101900197	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	9.945	1.218647	0.22373	.	.	ENSG00000161036	ENST00000292616	T	0.70045	-0.45	4.84	2.07	0.26955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.690826	0.15251	N	0.272334	T	0.46054	0.1373	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24368	-1.0162	10	0.30854	T	0.27	-15.8516	4.7181	0.12904	0.2695:0.1724:0.5581:0.0	.	582	Q9UFC0	LRWD1_HUMAN	I	582	ENSP00000292616:V582I	ENSP00000292616:V582I	V	+	1	0	LRWD1	101900197	0.006000	0.16342	0.005000	0.12908	0.206000	0.24218	0.194000	0.17135	0.350000	0.24002	0.555000	0.69702	GTC		0.657	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		A	102113192	G	A	102113192	3	1	390	1	0	0	0	0	1	0	0	0	9047	1145	40	1	1798	1	LRWD1	7	102113192	Missense_Mutation	SNP	G	TCGA-36-2540-01A-01D-1526-09		102113192	57025471	1	21259											
SPAM1	6677	genome.wustl.edu	37	7	123594015	123594015	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr7:123594015A>G	ENST00000439500.1	+	4	1004	c.391A>G	c.(391-393)Att>Gtt	p.I131V	SPAM1_ENST00000223028.7_Missense_Mutation_p.I131V|SPAM1_ENST00000340011.5_Missense_Mutation_p.I131V|SPAM1_ENST00000460182.1_Missense_Mutation_p.I131V|SPAM1_ENST00000402183.2_Missense_Mutation_p.I131V	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	131					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TAAGAAAGACATTACATTTTA	0.398																																																0			7											89	90	90					7																	123594015		2203	4300	6503	123381251	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.391A>G	7.37:g.123594015A>G	ENSP00000402123:p.Ile131Val		123381251	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.900853	0.52227	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	6.03	6.03	0.97812	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.052878	0.64402	D	0.000001	T	0.55497	0.1924	M	0.69248	2.105	0.43512	D	0.995777	P;P	0.45827	0.867;0.867	P;P	0.58577	0.841;0.841	T	0.52290	-0.8595	9	.	.	.	-63.8192	15.7467	0.77949	1.0:0.0:0.0:0.0	.	131;131	Q8TC30;P38567	.;HYALP_HUMAN	V	131	ENSP00000386028:I131V;ENSP00000417934:I131V;ENSP00000345849:I131V;ENSP00000402123:I131V;ENSP00000223028:I131V	.	I	+	1	0	SPAM1	123381251	1.000000	0.71417	0.792000	0.32020	0.019000	0.09904	5.151000	0.64875	2.302000	0.77476	0.533000	0.62120	ATT		0.398	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			G	123594015	A	G	123594015	3	3	390	1	0	0	0	0	1	0	0	0	14989	217	8	4	393	4	SPAM1	7	123594015	Missense_Mutation	SNP	A	TCGA-36-2540-01A-01D-1526-09	21480823	123594015	35544648	2	21260											
DERL1	79139	genome.wustl.edu	37	8	124027738	124027738	+	Silent	SNP	G	G	A			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr8:124027738G>A	ENST00000259512.4	-	8	1005	c.705C>T	c.(703-705)ggC>ggT	p.G235G	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000419562.2_Silent_p.G135G|DERL1_ENST00000405944.3_Silent_p.G215G|DERL1_ENST00000519018.1_Silent_p.G135G|DERL1_ENST00000523036.1_Silent_p.G135G	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	235					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCCGCCTCCGCCATTCTGAT	0.617																																																0			8											76	67	70					8																	124027738		2203	4300	6503	124096919	SO:0001819	synonymous_variant	79139			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.705C>T	8.37:g.124027738G>A			124096919	B3KW41|E9PH19	Silent	SNP	ENST00000259512.4	37	CCDS6337.1																																																																																				0.617	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		A	124027738	G	A	124027738	2	1	390	1	0	0	0	0	0	0	0	1	4446	1074	38	1		1	DERL1	8	124027738	Silent	SNP	G	TCGA-36-2540-01A-01D-1526-09		124027738	22336284	3	21261											
SLC17A8	246213	genome.wustl.edu	37	12	100806547	100806547	+	Splice_Site	SNP	G	G	A			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr12:100806547G>A	ENST00000323346.5	+	10	1499		c.e10-1		SLC17A8_ENST00000552697.1_Splice_Site|SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCCATTTGCAGGTTTTGGCAT	0.413																																																0			12											199	176	184					12																	100806547		2203	4300	6503	99330678	SO:0001630	splice_region_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1187-1G>A	12.37:g.100806547G>A			99330678	B3KXZ6|B7ZKV4|Q17RQ8	Splice_Site	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670623	0.88348	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC17A8	99330678	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.835000	0.99442	2.861000	0.98227	0.655000	0.94253	.		0.413	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	Intron	A	100806547	G	A	100806547	5	1	390	1	0	0	0	0	0	0	1	0	14426	1014	35	2	1224	2	SLC17A8	12	100806547	Splice_Site	SNP	G	TCGA-36-2540-01A-01D-1526-09		100806547	33045348	4	21262											
EPB41L3	23136	genome.wustl.edu	37	18	5489039	5489039	+	Silent	SNP	G	G	A	rs374406358		TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr18:5489039G>A	ENST00000341928.2	-	2	484	c.144C>T	c.(142-144)ttC>ttT	p.F48F	EPB41L3_ENST00000540638.2_Silent_p.F48F|EPB41L3_ENST00000544123.1_Silent_p.F48F|EPB41L3_ENST00000400111.3_Silent_p.F48F|EPB41L3_ENST00000342933.3_Silent_p.F48F	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	48					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAGCGGCGGCGAACTGCTCCA	0.721																																																0			18											18	20	20					18																	5489039		2198	4282	6480	5479039	SO:0001819	synonymous_variant	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.144C>T	18.37:g.5489039G>A			5479039	B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	CCDS11838.1																																																																																				0.721	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5489039	G	A	5489039	2	1	390	1	0	0	0	0	0	0	0	1	5154	1049	37	1		1	EPB41L3	18	5489039	Silent	SNP	G	TCGA-36-2540-01A-01D-1526-09		5489039	72588209	5	21263											
ZNF558	148156	genome.wustl.edu	37	19	8921997	8921997	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr19:8921997T>C	ENST00000601372.1	-	10	1880	c.1169A>G	c.(1168-1170)tAt>tGt	p.Y390C	ZNF558_ENST00000301475.1_Missense_Mutation_p.Y390C|ZNF558_ENST00000444186.2_Missense_Mutation_p.Y319C			Q96NG5	ZN558_HUMAN	zinc finger protein 558	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CACAGAAAGATAGGAGTTACT	0.363																																																0			19											87	89	88					19																	8921997		2203	4300	6503	8782997	SO:0001583	missense	148156			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.1169A>G	19.37:g.8921997T>C	ENSP00000471277:p.Tyr390Cys		8782997	A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.969726	0.34754	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.07444	3.19;3.19	5.02	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37761	N	0.001941	T	0.10723	0.0262	L	0.33792	1.035	0.09310	N	0.999999	D	0.64830	0.994	P	0.54460	0.753	T	0.08229	-1.0732	10	0.48119	T	0.1	.	6.7751	0.23615	0.1498:0.0:0.1559:0.6943	.	390	Q96NG5	ZN558_HUMAN	C	390;319	ENSP00000301475:Y390C;ENSP00000410703:Y319C	ENSP00000301475:Y390C	Y	-	2	0	ZNF558	8782997	0.000000	0.05858	0.991000	0.47740	0.663000	0.39108	-0.616000	0.05591	0.906000	0.36621	0.383000	0.25322	TAT		0.363	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		C	8921997	T	C	8921997	3	2	390	1	0	0	0	0	1	0	0	0	17989	1406	49	4	43	4	ZNF558	19	8921997	Missense_Mutation	SNP	T	TCGA-36-2540-01A-01D-1526-09		8921997	50206986	6	21264											
TLR8	51311	genome.wustl.edu	37	X	12937755	12937755	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chrX:12937755C>T	ENST00000218032.6	+	2	683	c.596C>T	c.(595-597)aCg>aTg	p.T199M	TLR8_ENST00000311912.5_Missense_Mutation_p.T217M	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	199					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.T217L(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTATTTGAAACGCTGACAAAT	0.378																																																1	Substitution - Missense(1)	skin(1)	X											67	72	71					X																	12937755		2203	4299	6502	12847676	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.596C>T	X.37:g.12937755C>T	ENSP00000218032:p.Thr199Met		12847676	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	5.509	0.278795	0.10458	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00976	5.48;5.48	4.93	-3.9	0.04181	.	3.218570	0.01781	N	0.031761	T	0.00936	0.0031	N	0.25144	0.715	0.09310	N	1	D;D	0.55605	0.972;0.972	B;B	0.41412	0.356;0.356	T	0.48375	-0.9041	10	0.62326	D	0.03	.	7.4995	0.27509	0.2882:0.4745:0.2373:0.0	.	199;217	Q9NR97;D1CS70	TLR8_HUMAN;.	M	199;217	ENSP00000218032:T199M;ENSP00000312082:T217M	ENSP00000218032:T199M	T	+	2	0	TLR8	12847676	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.979000	0.03774	-0.600000	0.05790	-0.450000	0.05554	ACG		0.378	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		T	12937755	C	T	12937755	3	4	390	1	0	0	0	0	1	0	0	0	15957	536	19	1	602	1	TLR8	23	12937755	Missense_Mutation	SNP	C	TCGA-36-2540-01A-01D-1526-09		12937755	142332805	7	21265											
FLG	2312	genome.wustl.edu	37	1	152284628	152284628	+	Missense_Mutation	SNP	G	G	A	rs147145635		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr1:152284628G>A	ENST00000368799.1	-	3	2769	c.2734C>T	c.(2734-2736)Cgt>Tgt	p.R912C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	912	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGTGACGTGACCCTGAG	0.567									Ichthyosis				-|||	1	0.000199681	0	0	5008	,	,		21118	0		0.001	False		,,,				2504	0															0			1						G	CYS/ARG	1,4405		0,1,2202	385	363	370		2734	-2.3	0	1	dbSNP_134	370	17,8583		0,17,4283	yes	missense	FLG	NM_002016.1	180	0,18,6485	AA,AG,GG		0.1977,0.0227,0.1384	probably-damaging	912/4062	152284628	18,12988	2203	4300	6503	150551252	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2734C>T	1.37:g.152284628G>A	ENSP00000357789:p.Arg912Cys		150551252	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	4.416	0.076815	0.08485	2.27E-4	0.001977	ENSG00000143631	ENST00000368799	T	0.02446	4.29	2.3	-2.27	0.06846	.	.	.	.	.	T	0.01835	0.0058	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	P	0.46659	0.523	T	0.40701	-0.9549	9	0.41790	T	0.15	.	9.1447	0.36925	0.0:0.6868:0.3132:0.0	.	912	P20930	FILA_HUMAN	C	912	ENSP00000357789:R912C	ENSP00000357789:R912C	R	-	1	0	FLG	150551252	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.326000	0.07965	-0.352000	0.08237	0.479000	0.44913	CGT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152284628	G	A	152284628	3	1	391	1	0	0	0	0	1	0	0	0	5922	1145	40	1	9455	1	FLG	1	152284628	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09		152284628	96965993	1	21266											
RGS1	5996	genome.wustl.edu	37	1	192547373	192547373	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr1:192547373G>C	ENST00000367459.3	+	4	368	c.302G>C	c.(301-303)aGt>aCt	p.S101T	RGS1_ENST00000469578.2_Missense_Mutation_p.S101T	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	101	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GTCTTTGGAAGTTTCCTAAAG	0.363																																																0			1											148	157	154					1																	192547373		2203	4300	6503	190813996	SO:0001583	missense	5996			AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"Regulators of G-protein signaling"	9991	protein-coding gene	gene with protein product		600323	"regulator of G-protein signalling 1"	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.302G>C	1.37:g.192547373G>C	ENSP00000356429:p.Ser101Thr		190813996	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	G	9.314	1.056320	0.19907	.	.	ENSG00000090104	ENST00000367459	T	0.01902	4.57	5.91	-2.09	0.07232	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.965131	0.08656	N	0.913162	T	0.01353	0.0044	N	0.04203	-0.255	0.09310	N	0.999999	B;B	0.27853	0.191;0.001	B;B	0.26416	0.069;0.01	T	0.49790	-0.8902	10	0.27082	T	0.32	.	11.4438	0.50112	0.543:0.0:0.457:0.0	.	101;101	Q08116-2;Q08116	.;RGS1_HUMAN	T	101	ENSP00000356429:S101T	ENSP00000356429:S101T	S	+	2	0	RGS1	190813996	0.003000	0.15002	0.824000	0.32777	0.703000	0.40648	0.022000	0.13511	-0.368000	0.08040	-0.312000	0.09012	AGT		0.363	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		C	192547373	G	C	192547373	3	2	391	1	0	0	0	0	1	0	0	0	13295	1029	36	3	316	3	RGS1	1	192547373	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09	40262745	192547373	56703248	2	21267											
SYT14	255928	genome.wustl.edu	37	1	210329144	210329144	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr1:210329144T>G	ENST00000472886.1	+	7	1257	c.1243T>G	c.(1243-1245)Tca>Gca	p.S415A	SYT14_ENST00000367015.1_Missense_Mutation_p.S377A|SYT14_ENST00000422431.1_Missense_Mutation_p.S460A|SYT14_ENST00000367019.1_Missense_Mutation_p.S415A|SYT14_ENST00000399639.2_Missense_Mutation_p.S415A|SYT14_ENST00000534859.1_Missense_Mutation_p.S415A|SYT14_ENST00000537238.1_Missense_Mutation_p.S377A|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	415					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGAACATGGCTCAGTTCCAGA	0.403																																																0			1											110	107	108					1																	210329144		2203	4300	6503	208395767	SO:0001583	missense	255928			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1243T>G	1.37:g.210329144T>G	ENSP00000418901:p.Ser415Ala		208395767	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.737894	0.49045	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.21031	3.3;3.15;2.03;3.4;3.17;3.39;3.4	4.77	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	M	0.67953	2.075	0.58432	D	0.999993	B;B;B;P	0.35139	0.354;0.053;0.184;0.486	B;B;B;B	0.41412	0.194;0.042;0.077;0.356	T	0.03008	-1.1083	10	0.51188	T	0.08	-5.5682	11.3409	0.49533	0.0:0.0:0.1525:0.8474	.	443;415;415;460	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	A	460;415;415;377;415;415;377	ENSP00000389039:S460A;ENSP00000442891:S415A;ENSP00000445837:S415A;ENSP00000437423:S377A;ENSP00000355986:S415A;ENSP00000418901:S415A;ENSP00000355982:S377A	ENSP00000355982:S377A	S	+	1	0	SYT14	208395767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.762000	0.62250	0.638000	0.30545	0.383000	0.25322	TCA		0.403	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		G	210329144	T	G	210329144	3	3	391	1	0	0	0	0	1	0	0	0	15470	1551	54	5	1408	5	SYT14	1	210329144	Missense_Mutation	SNP	T	TCGA-36-2542-01A-01D-1526-09	17781771	210329144	38921477	3	21268											
TGFB2	7042	genome.wustl.edu	37	1	218614630	218614630	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr1:218614630C>G	ENST00000366930.4	+	7	1638	c.1171C>G	c.(1171-1173)Ctc>Gtc	p.L391V	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Missense_Mutation_p.L419V	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	391					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TCTAACCATTCTCTACTACAT	0.398																																																0			1											123	123	123					1																	218614630		2203	4300	6503	216681253	SO:0001583	missense	7042			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1171C>G	1.37:g.218614630C>G	ENSP00000355897:p.Leu391Val		216681253	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235775	0.22626	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	D;D	0.86164	-2.08;-2.08	5.91	5.91	0.95273	Transforming growth factor-beta, C-terminal (3);	0.062950	0.64402	D	0.000002	D	0.88055	0.6334	L	0.55990	1.75	0.80722	D	1	P;B	0.43607	0.812;0.071	P;B	0.50049	0.629;0.133	D	0.84894	0.0838	10	0.24483	T	0.36	.	14.4428	0.67330	0.0:0.9303:0.0:0.0697	.	419;391	P61812-2;P61812	.;TGFB2_HUMAN	V	391;419	ENSP00000355897:L391V;ENSP00000355896:L419V	ENSP00000355896:L419V	L	+	1	0	TGFB2	216681253	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.995000	0.57001	2.793000	0.96121	0.655000	0.94253	CTC		0.398	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		G	218614630	C	G	218614630	3	3	391	1	0	0	0	0	1	0	0	0	15818	913	32	3	1285	3	TGFB2	1	218614630	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	8285486	218614630	30635991	4	21269											
C2orf56	55471	genome.wustl.edu	37	2	37463246	37463246	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:37463246A>T	ENST00000002125.4	+	3	264	c.224A>T	c.(223-225)tAt>tTt	p.Y75F	NDUFAF7_ENST00000336237.6_Intron|NDUFAF7_ENST00000483999.1_Intron	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	75					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										CAGGGTTATTATGTGTACCGT	0.299																																																0			2											97	106	103					2																	37463246		2201	4297	6498	37316750	SO:0001583	missense	55471				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"Mitochondrial respiratory chain complex assembly factors"	28816	protein-coding gene	gene with protein product	"mitochondrial dysfunction protein A homolog"	615898	"chromosome 2 open reading frame 56"	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.224A>T	2.37:g.37463246A>T	ENSP00000002125:p.Tyr75Phe		37316750	Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528206	0.85706	.	.	ENSG00000003509	ENST00000002125;ENST00000416653;ENST00000439218;ENST00000432075	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.36	5.36	0.76844	.	0.059424	0.64402	D	0.000001	D	0.96056	0.8715	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	D	0.97647	1.0152	10	0.87932	D	0	-17.321	15.0637	0.71977	1.0:0.0:0.0:0.0	.	75;75	B4DQY3;Q7L592	.;MIDA_HUMAN	F	75;33;33;33	ENSP00000002125:Y75F;ENSP00000410181:Y33F;ENSP00000394436:Y33F;ENSP00000402959:Y33F	ENSP00000002125:Y75F	Y	+	2	0	C2orf56	37316750	1.000000	0.71417	0.906000	0.35671	0.948000	0.59901	7.919000	0.87513	2.035000	0.60131	0.379000	0.24179	TAT		0.299	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		T	37463246	A	T	37463246	3	4	391	1	0	0	0	0	1	0	0	0	2177	449	16	5	234	5	C2orf56	2	37463246	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09		37463246	205736127	5	21270											
PTPN4	5775	genome.wustl.edu	37	2	120640100	120640100	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:120640100A>T	ENST00000263708.2	+	8	1259	c.488A>T	c.(487-489)cAg>cTg	p.Q163L		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	163	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GACTACGATCAGTCAGAGAAC	0.308																																																0			2											29	29	29					2																	120640100		2192	4284	6476	120356570	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.488A>T	2.37:g.120640100A>T	ENSP00000263708:p.Gln163Leu		120356570	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679107	0.47886	.	.	ENSG00000088179	ENST00000263708	T	0.79141	-1.24	5.73	5.73	0.89815	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.219160	0.47455	D	0.000223	T	0.66665	0.2812	N	0.26042	0.785	0.80722	D	1	B	0.06786	0.001	B	0.16722	0.016	T	0.62845	-0.6768	10	0.44086	T	0.13	.	11.7303	0.51732	0.868:0.0:0.0:0.132	.	163	P29074	PTN4_HUMAN	L	163	ENSP00000263708:Q163L	ENSP00000263708:Q163L	Q	+	2	0	PTPN4	120356570	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.503000	0.66962	2.187000	0.69744	0.482000	0.46254	CAG		0.308	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			T	120640100	A	T	120640100	3	4	391	1	0	0	0	0	1	0	0	0	12793	188	7	5	514	5	PTPN4	2	120640100	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09	83176854	120640100	122559273	6	21271											
RIF1	55183	genome.wustl.edu	37	2	152293851	152293851	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:152293851G>C	ENST00000243326.5	+	12	1952	c.1469G>C	c.(1468-1470)gGa>gCa	p.G490A	RIF1_ENST00000453091.2_Missense_Mutation_p.G490A|RIF1_ENST00000428287.2_Missense_Mutation_p.G490A|RIF1_ENST00000444746.2_Missense_Mutation_p.G490A|RIF1_ENST00000430328.2_Missense_Mutation_p.G490A|RIF1_ENST00000433166.2_3'UTR			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTTGCAGTTGGAAAAGATGCC	0.383																																																0			2											91	88	89					2																	152293851		2203	4300	6503	152002097	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1469G>C	2.37:g.152293851G>C	ENSP00000243326:p.Gly490Ala		152002097	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.173934|2.173934	0.38413|0.38413	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.62639|.	0.01;0.01;0.01;0.01;0.01|.	5.58|5.58	3.77|3.77	0.43336|0.43336	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64260|0.64260	0.2582|0.2582	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.61826|0.61826	-0.6983|-0.6983	10|5	0.37606|.	T|.	0.19|.	-16.2631|-16.2631	10.4612|10.4612	0.44581|0.44581	0.0699:0.0:0.7954:0.1347|0.0699:0.0:0.7954:0.1347	.|.	490;490|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	A|C	490|481	ENSP00000390181:G490A;ENSP00000414615:G490A;ENSP00000415691:G490A;ENSP00000243326:G490A;ENSP00000416123:G490A|.	ENSP00000243326:G490A|.	G|W	+|+	2|3	0|0	RIF1|RIF1	152002097|152002097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.040000|0.040000	0.13550|0.13550	7.354000|7.354000	0.79424|0.79424	0.827000|0.827000	0.34685|0.34685	-0.319000|-0.319000	0.08680|0.08680	GGA|TGG		0.383	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			C	152293851	G	C	152293851	3	2	391	1	0	0	0	0	1	0	0	0	13362	1174	41	3	1515	3	RIF1	2	152293851	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09	31653751	152293851	90905522	7	21272											
FN1	2335	genome.wustl.edu	37	2	216292974	216292974	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:216292974C>T	ENST00000359671.1	-	6	1038	c.773G>A	c.(772-774)tGc>tAc	p.C258Y	FN1_ENST00000345488.5_Missense_Mutation_p.C258Y|FN1_ENST00000357867.4_Missense_Mutation_p.C258Y|FN1_ENST00000446046.1_Missense_Mutation_p.C258Y|FN1_ENST00000443816.1_Missense_Mutation_p.C258Y|FN1_ENST00000354785.4_Missense_Mutation_p.C258Y|FN1_ENST00000323926.6_Missense_Mutation_p.C258Y|FN1_ENST00000336916.4_Missense_Mutation_p.C258Y|FN1_ENST00000432072.2_Missense_Mutation_p.C258Y|FN1_ENST00000346544.3_Missense_Mutation_p.C258Y|FN1_ENST00000426059.1_Missense_Mutation_p.C258Y|FN1_ENST00000357009.2_Missense_Mutation_p.C258Y|FN1_ENST00000356005.4_Missense_Mutation_p.C258Y|FN1_ENST00000421182.1_Missense_Mutation_p.C258Y			P02751	FINC_HUMAN	fibronectin 1	258	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				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)		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)	TGTGCAGATGCACTGGAGCAG	0.547																																																0			2											143	117	126					2																	216292974		2203	4300	6503	216001219	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.773G>A	2.37:g.216292974C>T	ENSP00000352696:p.Cys258Tyr		216001219	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		.	.	.	.	.	.	.	.	.	.	C	26.3	4.727905	0.89390	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	M	0.82716	2.605	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;0.815;1.0;1.0;1.0;0.998;1.0;1.0;0.994	D;D;D;P;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.97;0.674;0.999;0.999;1.0;0.968;0.999;0.999;0.997	D	0.97520	1.0072	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	258;258;258;258;258;258;258;258;258;258;258	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Y	258	ENSP00000394423:C258Y;ENSP00000323534:C258Y;ENSP00000338200:C258Y;ENSP00000350534:C258Y;ENSP00000346839:C258Y;ENSP00000352696:C258Y;ENSP00000265312:C258Y;ENSP00000273049:C258Y;ENSP00000349509:C258Y;ENSP00000410422:C258Y;ENSP00000415018:C258Y;ENSP00000399538:C258Y;ENSP00000348285:C258Y;ENSP00000398907:C258Y	ENSP00000265313:C258Y	C	-	2	0	FN1	216001219	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	TGC		0.547	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		T	216292974	C	T	216292974	3	4	391	1	0	0	0	0	1	0	0	0	5962	710	25	2	6857	2	FN1	2	216292974	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	63999123	216292974	26906399	8	21273											
KCNE4	23704	genome.wustl.edu	37	2	223917913	223917913	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:223917913G>T	ENST00000281830.3	+	2	849	c.518G>T	c.(517-519)gGg>gTg	p.G173V	KCNE4_ENST00000604125.1_Missense_Mutation_p.G122V|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	173						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)	p.G122V(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCATGGAAGGGGACAGCGTG	0.667																																																1	Substitution - Missense(1)	lung(1)	2											47	48	48					2																	223917913		2203	4300	6503	223626157	SO:0001583	missense	23704			AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"Potassium channels"	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.518G>T	2.37:g.223917913G>T	ENSP00000281830:p.Gly173Val		223626157	B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.175170	0.78564	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.16	5.25	0.73442	.	0.167838	0.53938	D	0.000046	T	0.60637	0.2284	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.57720	0.826	T	0.63808	-0.6553	9	0.59425	D	0.04	-12.3328	19.2387	0.93873	0.0:0.1223:0.8777:0.0	.	122	Q8WWG9	KCNE4_HUMAN	V	122	.	ENSP00000281830:G122V	G	+	2	0	KCNE4	223626157	1.000000	0.71417	0.987000	0.45799	0.973000	0.67179	5.926000	0.70070	2.937000	0.99478	0.650000	0.86243	GGG		0.667	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		T	223917913	G	T	223917913	3	4	391	1	0	0	0	0	1	0	0	0	8025	1232	43	3	367	3	KCNE4	2	223917913	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09	7624939	223917913	19281460	9	21274											
GLT8D1	55830	genome.wustl.edu	37	3	52729555	52729555	+	Missense_Mutation	SNP	G	G	C	rs527609707		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr3:52729555G>C	ENST00000407584.3	-	9	1544	c.694C>G	c.(694-696)Ctt>Gtt	p.L232V	SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000478968.2_Missense_Mutation_p.L232V|GLT8D1_ENST00000394783.3_Missense_Mutation_p.L232V|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000491606.1_Missense_Mutation_p.L232V|GLT8D1_ENST00000266014.5_Missense_Mutation_p.L232V	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	232						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTCATGGAAAGCTTACGAATT	0.338																																																0			3											119	121	121					3																	52729555		2203	4299	6502	52704595	SO:0001583	missense	55830			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"Glycosyltransferase family 8 domain containing"	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.694C>G	3.37:g.52729555G>C	ENSP00000385730:p.Leu232Val		52704595	Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	ENST00000407584.3	37	CCDS2862.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991051	0.74703	.	.	ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606;ENST00000394786	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.82	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	M	0.83603	2.65	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.60816	-0.7188	10	0.54805	T	0.06	-17.7158	15.2034	0.73159	0.0683:0.0:0.9317:0.0	.	232	Q68CQ7	GL8D1_HUMAN	V	232;232;232;232;232;63	ENSP00000419612:L232V;ENSP00000378263:L232V;ENSP00000385730:L232V;ENSP00000266014:L232V;ENSP00000418853:L232V	ENSP00000266014:L232V	L	-	1	0	GLT8D1	52704595	1.000000	0.71417	0.924000	0.36721	0.966000	0.64601	7.549000	0.82163	1.443000	0.47586	0.563000	0.77884	CTT		0.338	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352065.3	NM_152932		C	52729555	G	C	52729555	3	2	391	1	0	0	0	0	1	0	0	0	6469	971	34	3	433	3	GLT8D1	3	52729555	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09		52729555	145292875	10	21275											
ZNF80	7634	genome.wustl.edu	37	3	113955434	113955434	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr3:113955434C>T	ENST00000482457.2	-	1	991	c.488G>A	c.(487-489)tGc>tAc	p.C163Y	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACATTCTTTGCACCCAAAGAG	0.488																																					GBM(23;986 1114 21716)											0			3											100	105	103					3																	113955434		2203	4300	6503	115438124	SO:0001583	missense	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.488G>A	3.37:g.113955434C>T	ENSP00000417192:p.Cys163Tyr		115438124	Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194327	0.58017	.	.	ENSG00000174255	ENST00000482457	D	0.85088	-1.94	3.09	2.18	0.27775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92312	0.7561	M	0.88241	2.94	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82655	-0.0350	9	0.72032	D	0.01	.	9.5344	0.39213	0.2117:0.7883:0.0:0.0	.	163	P51504	ZNF80_HUMAN	Y	163	ENSP00000417192:C163Y	ENSP00000309812:C163Y	C	-	2	0	ZNF80	115438124	0.603000	0.26924	0.001000	0.08648	0.353000	0.29299	2.482000	0.45224	0.826000	0.34661	0.561000	0.74099	TGC		0.488	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		T	113955434	C	T	113955434	3	4	391	1	0	0	0	0	1	0	0	0	18168	710	25	2	337	2	ZNF80	3	113955434	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	61225879	113955434	84066996	11	21276											
POPDC2	64091	genome.wustl.edu	37	3	119379141	119379141	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr3:119379141C>A	ENST00000264231.3	-	1	296	c.130G>T	c.(130-132)Ggc>Tgc	p.G44C	POPDC2_ENST00000493094.1_Missense_Mutation_p.G44C|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000468801.1_Missense_Mutation_p.G44C|POPDC2_ENST00000538678.1_Missense_Mutation_p.G44C	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	44					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		ACCCCACTGCCCCCCATGAAG	0.567																																																0			3											96	86	89					3																	119379141		2203	4300	6503	120861831	SO:0001583	missense	64091			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.130G>T	3.37:g.119379141C>A	ENSP00000264231:p.Gly44Cys		120861831	Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046749	0.93740	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.79	5.79	0.91817	.	0.046859	0.85682	D	0.000000	T	0.69178	0.3082	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70930	-0.4738	10	0.62326	D	0.03	.	20.031	0.97536	0.0:1.0:0.0:0.0	.	44;44	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	C	44	ENSP00000264231:G44C;ENSP00000417250:G44C;ENSP00000420715:G44C;ENSP00000438271:G44C	ENSP00000264231:G44C	G	-	1	0	POPDC2	120861831	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.735000	0.93741	0.655000	0.94253	GGC		0.567	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		A	119379141	C	A	119379141	3	1	391	1	0	0	0	0	1	0	0	0	12255	623	22	3	980	3	POPDC2	3	119379141	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	5423707	119379141	78643289	12	21277											
SI	6476	genome.wustl.edu	37	3	164741547	164741547	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr3:164741547T>A	ENST00000264382.3	-	26	2972	c.2910A>T	c.(2908-2910)aaA>aaT	p.K970N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	970	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACTCAGGTGCTTTGGATAGAG	0.363										HNSCC(35;0.089)																																						0			3											82	79	80					3																	164741547		2203	4300	6503	166224241	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2910A>T	3.37:g.164741547T>A	ENSP00000264382:p.Lys970Asn		166224241	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	6.732	0.503878	0.12822	.	.	ENSG00000090402	ENST00000264382	T	0.52983	0.64	5.23	-4.06	0.03986	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	1.311370	0.04460	N	0.374192	T	0.19127	0.0459	N	0.02985	-0.445	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.09465	-1.0673	10	0.27785	T	0.31	.	2.6558	0.05012	0.4535:0.0664:0.1836:0.2965	.	970	P14410	SUIS_HUMAN	N	970	ENSP00000264382:K970N	ENSP00000264382:K970N	K	-	3	2	SI	166224241	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.095000	0.11077	-0.365000	0.08076	-1.063000	0.02288	AAA		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164741547	T	A	164741547	3	1	391	1	0	0	0	0	1	0	0	0	14300	1606	56	5	2665	5	SI	3	164741547	Missense_Mutation	SNP	T	TCGA-36-2542-01A-01D-1526-09	45362406	164741547	33280883	13	21278											
N4BP2	55728	genome.wustl.edu	37	4	40144436	40144436	+	Silent	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr4:40144436T>A	ENST00000261435.6	+	15	5345	c.4929T>A	c.(4927-4929)gcT>gcA	p.A1643A		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1643					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCAAAGAAGCTTATCGGATAG	0.403																																																0			4											99	98	98					4																	40144436		2203	4300	6503	39820831	SO:0001819	synonymous_variant	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4929T>A	4.37:g.40144436T>A			39820831	A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	T	7.261	0.605214	0.14002	.	.	ENSG00000078177	ENST00000513269	.	.	.	5.38	-6.65	0.01795	.	.	.	.	.	T	0.36963	0.0986	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37865	-0.9687	4	.	.	.	-13.4154	2.4046	0.04409	0.2453:0.3608:0.0842:0.3097	.	.	.	.	I	1273	.	.	L	+	1	2	N4BP2	39820831	0.047000	0.20315	0.778000	0.31720	0.684000	0.39900	-0.779000	0.04659	-1.586000	0.01632	-2.479000	0.00199	TTA		0.403	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		A	40144436	T	A	40144436	2	1	391	1	0	0	0	0	0	0	0	1	10110	1596	56	5		5	N4BP2	4	40144436	Silent	SNP	T	TCGA-36-2542-01A-01D-1526-09		40144436	151009840	14	21279											
SRD5A1	6715	genome.wustl.edu	37	5	6663040	6663040	+	Missense_Mutation	SNP	C	C	T	rs374499334		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr5:6663040C>T	ENST00000274192.5	+	4	908	c.674C>T	c.(673-675)aCg>aTg	p.T225M	SRD5A1_ENST00000538824.1_Missense_Mutation_p.T178M|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	225					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	GCTTTCTTCACGTTTTGTTTT	0.388																																																0			5						C	MET/THR	0,4406		0,0,2203	119	113	115		674	3.7	0	5		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRD5A1	NM_001047.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	225/260	6663040	1,13005	2203	4300	6503	6716040	SO:0001583	missense	6715			M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.674C>T	5.37:g.6663040C>T	ENSP00000274192:p.Thr225Met		6716040	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381085	0.61845	0.0	1.16E-4	ENSG00000145545	ENST00000274192;ENST00000538824	T;T	0.33654	1.4;1.4	4.66	3.72	0.42706	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.050291	0.85682	D	0.000000	T	0.62221	0.2410	M	0.86502	2.82	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.68943	0.961;0.883	T	0.70483	-0.4859	10	0.87932	D	0	-10.6649	13.447	0.61146	0.0:0.8416:0.1584:0.0	.	178;225	F5GXK9;P18405	.;S5A1_HUMAN	M	225;178	ENSP00000274192:T225M;ENSP00000440186:T178M	ENSP00000274192:T225M	T	+	2	0	SRD5A1	6716040	0.997000	0.39634	0.028000	0.17463	0.014000	0.08584	3.833000	0.55790	2.308000	0.77769	0.655000	0.94253	ACG		0.388	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		T	6663040	C	T	6663040	3	4	391	1	0	0	0	0	1	0	0	0	15140	536	19	1	688	1	SRD5A1	5	6663040	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09		6663040	174252220	15	21280											
ARAP3	64411	genome.wustl.edu	37	5	141052463	141052463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr5:141052463G>A	ENST00000239440.4	-	8	1188	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q37*|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q297*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	375	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGACAGGACTGCAGCGTGGAG	0.682																																																0			5											25	24	24					5																	141052463		2203	4298	6501	141032647	SO:0001587	stop_gained	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1123C>T	5.37:g.141052463G>A	ENSP00000239440:p.Gln375*		141032647	B4DIT1|D3DQE3	Nonsense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654359	0.88056	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	.	.	.	4.35	4.35	0.52113	.	0.144459	0.47455	D	0.000233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.8064	0.69959	0.0:0.0:1.0:0.0	.	.	.	.	X	294;297;375;37;375	.	ENSP00000239440:Q375X	Q	-	1	0	ARAP3	141032647	1.000000	0.71417	0.858000	0.33744	0.212000	0.24457	8.478000	0.90428	2.247000	0.74100	0.462000	0.41574	CAG		0.682	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		A	141052463	G	A	141052463	4	1	391	1	0	0	0	0	0	1	0	0	840	1328	46	2	3615	2	ARAP3	5	141052463	Nonsense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09	134389423	141052463	39862797	16	21281											
SLC36A1	206358	genome.wustl.edu	37	5	150846759	150846759	+	Splice_Site	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr5:150846759G>C	ENST00000243389.3	+	6	642		c.e6-1		SLC36A1_ENST00000521925.1_Splice_Site|SLC36A1_ENST00000429484.2_Splice_Site|SLC36A1_ENST00000520701.1_Splice_Site	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.?(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCCACCTCCAGACGTGTTGTG	0.423																																					Melanoma(151;1534 1860 12947 32979 37872)											1	Unknown(1)	lung(1)	5											187	173	178					5																	150846759		2203	4300	6503	150826952	SO:0001630	splice_region_variant	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.420-1G>C	5.37:g.150846759G>C			150826952	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Splice_Site	SNP	ENST00000243389.3	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505001	0.44558	.	.	ENSG00000123643	ENST00000520701;ENST00000429484;ENST00000243389;ENST00000456739;ENST00000521925	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC36A1	150826952	1.000000	0.71417	0.990000	0.47175	0.224000	0.24922	9.113000	0.94321	2.614000	0.88457	0.563000	0.77884	.		0.423	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483	Intron	C	150846759	G	C	150846759	5	2	391	1	0	0	0	0	0	0	1	0	14596	956	33	3	437	3	SLC36A1	5	150846759	Splice_Site	SNP	G	TCGA-36-2542-01A-01D-1526-09	9794296	150846759	30068501	17	21282											
SCAND3	114821	genome.wustl.edu	37	6	28543042	28543042	+	Silent	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:28543042T>A	ENST00000452236.2	-	3	2057	c.1440A>T	c.(1438-1440)cgA>cgT	p.R480R	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAATCCTCTTTCGGATATCCT	0.423																																																0			6											118	117	118					6																	28543042		2203	4300	6503	28651021	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.1440A>T	6.37:g.28543042T>A			28651021		Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			A	28543042	T	A	28543042	2	1	391	1	0	0	0	0	0	0	0	1	13879	1770	62	5		5	SCAND3	6	28543042	Silent	SNP	T	TCGA-36-2542-01A-01D-1526-09		28543042	142572025	18	21283											
TAPBP	9278	genome.wustl.edu	37	6	33281788	33281788	+	IGR	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:33281788C>T	ENST00000431845.2	-	0	2651				TAPBP_ENST00000489157.1_Missense_Mutation_p.A11T|TAPBP_ENST00000434618.2_Missense_Mutation_p.A11T|TAPBP_ENST00000426633.2_Missense_Mutation_p.A11T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A11T|TAPBP_ENST00000456592.2_Missense_Mutation_p.A11T	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TCACCCAAAGCCACAGCGAGG	0.627																																																0			6											71	72	72					6																	33281788		2203	4300	6503	33389766	SO:0001628	intergenic_variant	6892			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281788C>T			33389766	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909310	0.33721	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000458089;ENST00000437741;ENST00000467025	T;T;T;T;T	0.42131	1.46;1.53;0.98;1.39;1.46	3.66	1.75	0.24633	.	0.401019	0.25166	N	0.032631	T	0.15869	0.0382	M	0.63428	1.95	0.21064	N	0.999799	B;B;B;B;B;B	0.33612	0.288;0.099;0.164;0.419;0.16;0.099	B;B;B;B;B;B	0.30646	0.118;0.041;0.041;0.118;0.088;0.041	T	0.14504	-1.0470	10	0.21540	T	0.41	-12.6168	8.2517	0.31730	0.4334:0.5666:0.0:0.0	.	11;11;11;11;11;11	G5E9H8;E9PGM2;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;.;TPSN_HUMAN	T	11	ENSP00000395701:A11T;ENSP00000417949:A11T;ENSP00000419659:A11T;ENSP00000404833:A11T;ENSP00000387803:A11T	ENSP00000404833:A11T	A	-	1	0	TAPBP	33389766	0.697000	0.27767	0.305000	0.25099	0.249000	0.25844	0.733000	0.26087	0.470000	0.27294	0.549000	0.68633	GCT		0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			T	33281788	C	T	33281788	1	4	391	0	1	0	0	0	0	0	0	0	15552	739	26	2		2	TAPBP	6	33281788	IGR	SNP	C	TCGA-36-2542-01A-01D-1526-09	4738746	33281788	137833279	19	21284											
MUT	4594	genome.wustl.edu	37	6	49427027	49427027	+	Silent	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:49427027C>A	ENST00000274813.3	-	2	280	c.153G>T	c.(151-153)ctG>ctT	p.L51L		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	51					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTGCCTTTCAGCTGCTTTT	0.478																																																0			6											142	135	138					6																	49427027		2203	4300	6503	49534986	SO:0001819	synonymous_variant	4594				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.153G>T	6.37:g.49427027C>A			49534986	A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	ENST00000274813.3	37	CCDS4924.1																																																																																				0.478	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			A	49427027	C	A	49427027	2	1	391	1	0	0	0	0	0	0	0	1	9991	813	29	3		3	MUT	6	49427027	Silent	SNP	C	TCGA-36-2542-01A-01D-1526-09	16145239	49427027	121688040	20	21285											
SNX14	57231	genome.wustl.edu	37	6	86282043	86282043	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:86282043C>G	ENST00000314673.3	-	3	487	c.311G>C	c.(310-312)tGt>tCt	p.C104S	SNX14_ENST00000346348.3_Missense_Mutation_p.C104S|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.C104S|SNX14_ENST00000505648.1_Missense_Mutation_p.C52S|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.C104S	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	104					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CACTTTACCACAAACAGCACA	0.323																																																0			6											122	134	130					6																	86282043		2203	4300	6503	86338762	SO:0001583	missense	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.311G>C	6.37:g.86282043C>G	ENSP00000313121:p.Cys104Ser		86338762	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874476	0.72180	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000509338;ENST00000514419	T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.01858	-1.1259	10	0.09338	T	0.73	-12.0476	19.445	0.94843	0.0:1.0:0.0:0.0	.	104;104;104	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7	.;.;SNX14_HUMAN	S	104;104;104;52;104;31;52;103	ENSP00000257769:C104S;ENSP00000313121:C104S;ENSP00000420938:C104S;ENSP00000427380:C52S;ENSP00000358641:C104S;ENSP00000425630:C31S;ENSP00000424302:C52S;ENSP00000425387:C103S	ENSP00000313121:C104S	C	-	2	0	SNX14	86338762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.815000	0.55651	2.603000	0.88011	0.491000	0.48974	TGT		0.323	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		G	86282043	C	G	86282043	3	3	391	1	0	0	0	0	1	0	0	0	14888	478	17	3	2637	3	SNX14	6	86282043	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	36855016	86282043	84833024	21	21286											
LAMA2	3908	genome.wustl.edu	37	6	129609120	129609120	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:129609120G>A	ENST00000421865.2	+	19	2715	c.2666G>A	c.(2665-2667)tGt>tAt	p.C889Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	889	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTCTGATATGTAAACCAGGT	0.488																																																0			6											282	235	251					6																	129609120		2203	4300	6503	129650813	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2666G>A	6.37:g.129609120G>A	ENSP00000400365:p.Cys889Tyr		129650813	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801641	0.90538	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94330	-3.4	5.93	5.93	0.95920	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.98977	1.0803	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	889;889	A6NF00;P24043	.;LAMA2_HUMAN	Y	889	ENSP00000400365:C889Y	ENSP00000346769:C889Y	C	+	2	0	LAMA2	129650813	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	TGT		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129609120	G	A	129609120	3	1	391	1	0	0	0	0	1	0	0	0	8606	1377	48	2	2740	2	LAMA2	6	129609120	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09	43327077	129609120	41505947	22	21287											
CDK13	8621	genome.wustl.edu	37	7	40117693	40117693	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:40117693G>C	ENST00000181839.4	+	10	3475	c.2870G>C	c.(2869-2871)cGt>cCt	p.R957P	CDK13_ENST00000340829.5_Missense_Mutation_p.R957P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	957	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGCAATATCGTCGAAAGTTA	0.358																																																0			7											160	150	153					7																	40117693		2203	4300	6503	40084218	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2870G>C	7.37:g.40117693G>C	ENSP00000181839:p.Arg957Pro		40084218	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030092	0.75504	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.42900	0.96;0.96	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.46425	0.1392	N	0.05441	-0.05	0.80722	D	1	D;P	0.89917	1.0;0.787	D;P	0.91635	0.999;0.5	T	0.48410	-0.9038	8	.	.	.	-8.6523	20.0184	0.97486	0.0:0.0:1.0:0.0	.	957;957	Q14004-2;Q14004	.;CDK13_HUMAN	P	957	ENSP00000181839:R957P;ENSP00000340557:R957P	.	R	+	2	0	CDK13	40084218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	CGT		0.358	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		C	40117693	G	C	40117693	3	2	391	1	0	0	0	0	1	0	0	0	3129	1145	40	3	2908	3	CDK13	7	40117693	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09		40117693	119020970	23	21288											
OGDH	4967	genome.wustl.edu	37	7	44715805	44715805	+	Intron	SNP	G	G	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:44715805G>T	ENST00000222673.5	+	9	1248				OGDH_ENST00000444676.1_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000443864.2_Missense_Mutation_p.M421I|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTTCCAGCATGGAGTTCCGCT	0.522																																																0			7											64	72	69					7																	44715805		1327	2309	3636	44682330	SO:0001627	intron_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1206+57G>T	7.37:g.44715805G>T			44682330	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	5.549	0.286111	0.10513	.	.	ENSG00000105953	ENST00000443864	T	0.39787	1.06	3.24	-2.88	0.05682	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	7	.	.	.	.	4.6342	0.12516	0.4751:0.1684:0.3566:0.0	.	421	Q96DD3	.	I	421	ENSP00000388084:M421I	.	M	+	3	0	OGDH	44682330	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.402000	0.07223	-0.617000	0.05664	0.462000	0.41574	ATG		0.522	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			T	44715805	G	T	44715805	1	4	391	0	1	0	0	0	0	0	0	0	10839	1348	47	3		3	OGDH	7	44715805	Intron	SNP	G	TCGA-36-2542-01A-01D-1526-09	4598112	44715805	114422858	24	21289											
TRRAP	8295	genome.wustl.edu	37	7	98574269	98574269	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:98574269A>G	ENST00000359863.4	+	54	8311	c.8102A>G	c.(8101-8103)aAc>aGc	p.N2701S	TRRAP_ENST00000446306.3_Missense_Mutation_p.N2683S|TRRAP_ENST00000355540.3_Missense_Mutation_p.N2683S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2701					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGACACACAACCTCTGGTTC	0.557																																																0			7											71	68	69					7																	98574269		2203	4300	6503	98412205	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8102A>G	7.37:g.98574269A>G	ENSP00000352925:p.Asn2701Ser		98412205	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.183496|5.183496	0.94885|0.94885	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.47528|.	0.84;0.84|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Armadillo-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76630|0.76630	0.4014|0.4014	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;P;P|.	0.65815|.	0.995;0.9;0.9|.	D;P;P|.	0.64144|.	0.922;0.521;0.598|.	T|T	0.77262|0.77262	-0.2653|-0.2653	10|5	0.72032|.	D|.	0.01|.	.|.	16.3634|16.3634	0.83296|0.83296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2683;2422;2701|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|A	2701;2683;2682|2423	ENSP00000352925:N2701S;ENSP00000347733:N2683S|.	ENSP00000347733:N2683S|.	N|T	+|+	2|1	0|0	TRRAP|TRRAP	98412205|98412205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	9.040000|9.040000	0.93783|0.93783	2.270000|2.270000	0.75569|0.75569	0.459000|0.459000	0.35465|0.35465	AAC|ACC		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		G	98574269	A	G	98574269	3	3	391	1	0	0	0	0	1	0	0	0	16601	43	2	4	8254	4	TRRAP	7	98574269	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09	53858464	98574269	60564394	25	21290											
PMPCB	9512	genome.wustl.edu	37	7	102944373	102944373	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:102944373A>T	ENST00000249269.4	+	5	580	c.542A>T	c.(541-543)gAg>gTg	p.E181V	PMPCB_ENST00000428154.1_Missense_Mutation_p.E181V|PMPCB_ENST00000420236.2_Missense_Mutation_p.E76V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	181					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCCTTAGAGAGATGCAGGAA	0.368																																																0			7											111	106	108					7																	102944373		2203	4300	6503	102731609	SO:0001583	missense	9512			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.542A>T	7.37:g.102944373A>T	ENSP00000249269:p.Glu181Val		102731609	O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816838	0.90790	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.28895	1.59;1.59;1.59	5.39	5.39	0.77823	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	H	0.99989	5.305	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.89819	0.3987	10	0.87932	D	0	.	15.4162	0.74970	1.0:0.0:0.0:0.0	.	76;76;181;181;172;181;181	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	V	181;181;76	ENSP00000249269:E181V;ENSP00000390035:E181V;ENSP00000410393:E76V	ENSP00000249269:E181V	E	+	2	0	PMPCB	102731609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.040000	0.60383	0.528000	0.53228	GAG		0.368	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		T	102944373	A	T	102944373	3	4	391	1	0	0	0	0	1	0	0	0	12141	304	11	5	560	5	PMPCB	7	102944373	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09	4370104	102944373	56194290	26	21291											
SLC13A4	26266	genome.wustl.edu	37	7	135366378	135366378	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:135366378A>T	ENST00000354042.4	-	16	2503	c.1814T>A	c.(1813-1815)gTt>gAt	p.V605D	SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	605					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GAAGAGGCTAACTCCCCAGGT	0.542																																																0			7											192	136	155					7																	135366378		2203	4300	6503	135016918	SO:0001583	missense	26266			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1814T>A	7.37:g.135366378A>T	ENSP00000297282:p.Val605Asp		135016918	A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.588577	0.46110	.	.	ENSG00000164707	ENST00000354042	T	0.02787	4.16	5.25	5.25	0.73442	.	0.702191	0.13682	N	0.370118	T	0.06645	0.0170	L	0.51853	1.615	0.27531	N	0.951082	P;B	0.41475	0.751;0.4	P;B	0.46850	0.529;0.405	T	0.20672	-1.0268	10	0.37606	T	0.19	.	13.1657	0.59569	1.0:0.0:0.0:0.0	.	474;605	Q59HF0;Q9UKG4	.;S13A4_HUMAN	D	605	ENSP00000297282:V605D	ENSP00000297282:V605D	V	-	2	0	SLC13A4	135016918	0.860000	0.29831	0.853000	0.33588	0.976000	0.68499	4.059000	0.57470	2.214000	0.71695	0.528000	0.53228	GTT		0.542	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		T	135366378	A	T	135366378	3	4	391	1	0	0	0	0	1	0	0	0	14397	43	2	5	70	5	SLC13A4	7	135366378	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09	32422005	135366378	23772285	27	21292											
PARP12	64761	genome.wustl.edu	37	7	139724414	139724414	+	Silent	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:139724414C>G	ENST00000263549.3	-	12	2925	c.2052G>C	c.(2050-2052)tcG>tcC	p.S684S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	684	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGGGTGTGACCGAGGGCTTGG	0.567																																																0			7											140	112	122					7																	139724414		2203	4300	6503	139370883	SO:0001819	synonymous_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.2052G>C	7.37:g.139724414C>G			139370883	Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	C	4.740	0.137573	0.09032	.	.	ENSG00000059378	ENST00000541746	.	.	.	4.67	-9.35	0.00633	.	.	.	.	.	T	0.29783	0.0744	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45440	-0.9261	5	0.72032	D	0.01	.	4.1623	0.10289	0.194:0.1297:0.0963:0.58	.	.	.	.	P	68	.	ENSP00000445106:R68P	R	-	2	0	PARP12	139370883	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.268000	0.00533	-2.059000	0.00894	-0.136000	0.14681	CGG		0.567	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		G	139724414	C	G	139724414	2	3	391	1	0	0	0	0	0	0	0	1	11457	639	23	3		3	PARP12	7	139724414	Silent	SNP	C	TCGA-36-2542-01A-01D-1526-09	4358036	139724414	19414249	28	21293											
MLL3	58508	genome.wustl.edu	37	7	151917707	151917707	+	Nonsense_Mutation	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:151917707T>A	ENST00000262189.6	-	23	3831	c.3613A>T	c.(3613-3615)Aaa>Taa	p.K1205*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.K1205*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1205					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATCTTCAATTTCAATTTTGGT	0.433																																																0			7											105	97	100					7																	151917707		2203	4300	6503	151548640	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3613A>T	7.37:g.151917707T>A	ENSP00000262189:p.Lys1205*		151548640	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	44	10.977353	0.99498	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.44	4.44	0.53790	.	0.000000	0.46442	U	0.000297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.977	0.64279	0.0:0.0:0.0:1.0	.	.	.	.	X	1205	.	ENSP00000262189:K1205X	K	-	1	0	MLL3	151548640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.599000	0.82757	1.753000	0.51906	0.397000	0.26171	AAA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151917707	T	A	151917707	4	1	391	1	0	0	0	0	0	1	0	0	9622	1792	62	5	11270	5	MLL3	7	151917707	Nonsense_Mutation	SNP	T	TCGA-36-2542-01A-01D-1526-09	12193293	151917707	7220956	29	21294											
POTEA	340441	genome.wustl.edu	37	8	43152233	43152233	+	RNA	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr8:43152233C>G	ENST00000522175.2	+	0	372							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGACAATGTCAACTTCATGT	0.388																																																0			8											101	100	100					8																	43152233		2168	4289	6457	43271390			340441			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152233C>G			43271390	A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37																																																																																					0.388	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		G	43152233	C	G	43152233	1	3	391	0	1	0	0	0	0	0	0	0	12261	827	29	3		3	POTEA	8	43152233	RNA	SNP	C	TCGA-36-2542-01A-01D-1526-09		43152233	103211789	30	21295											
TMOD1	7111	genome.wustl.edu	37	9	100353682	100353682	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr9:100353682G>A	ENST00000259365.4	+	9	1193	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	TMOD1_ENST00000395211.2_Missense_Mutation_p.R327Q|TMOD1_ENST00000375175.1_Missense_Mutation_p.R200Q	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	327					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		CCCCGGCTTCGGGCATCCAAC	0.502																																																0			9											99	97	98					9																	100353682		2203	4300	6503	99393503	SO:0001583	missense	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.980G>A	9.37:g.100353682G>A	ENSP00000259365:p.Arg327Gln		99393503	B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	36	5.810326	0.96975	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.91686	-2.89;-2.89;-2.89	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	D	0.95850	0.8649	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	P	0.60012	0.867	D	0.96179	0.9129	10	0.87932	D	0	-14.6462	18.9948	0.92809	0.0:0.0:1.0:0.0	.	327	P28289	TMOD1_HUMAN	Q	327;327;200	ENSP00000378637:R327Q;ENSP00000259365:R327Q;ENSP00000364318:R200Q	ENSP00000259365:R327Q	R	+	2	0	TMOD1	99393503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.680000	0.91292	0.467000	0.42956	CGG		0.502	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		A	100353682	G	A	100353682	3	1	391	1	0	0	0	0	1	0	0	0	16233	1116	39	1	1010	1	TMOD1	9	100353682	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09		100353682	40859749	31	21296											
ITIH5	80760	genome.wustl.edu	37	10	7605294	7605294	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr10:7605294G>T	ENST00000256861.6	-	14	2659	c.2581C>A	c.(2581-2583)Cag>Aag	p.Q861K	ITIH5_ENST00000446830.2_Missense_Mutation_p.Q643K|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.Q647K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	861					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTGAGGTTCTGGCTGGGCCCT	0.567																																																0			10											63	60	61					10																	7605294		2203	4300	6503	7645300	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2581C>A	10.37:g.7605294G>T	ENSP00000256861:p.Gln861Lys		7645300	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	0.351	-0.944817	0.02304	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.10573	2.86;2.86;2.86	5.05	-3.86	0.04230	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	3.900760	0.00357	N	0.000024	T	0.06188	0.0160	.	.	.	0.19945	N	0.999946	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31806	-0.9930	9	0.22109	T	0.4	-0.9836	5.9425	0.19201	0.1921:0.0693:0.5518:0.1868	.	861;647	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	K	861;647;643	ENSP00000256861:Q861K;ENSP00000298441:Q647K;ENSP00000387969:Q643K	ENSP00000256861:Q861K	Q	-	1	0	ITIH5	7645300	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.557000	0.05985	-0.906000	0.03866	-1.738000	0.00688	CAG		0.567	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		T	7605294	G	T	7605294	3	4	391	1	0	0	0	0	1	0	0	0	7907	1357	47	3	293	3	ITIH5	10	7605294	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09		7605294	127929453	32	21297											
LRRC20	55222	genome.wustl.edu	37	10	72061135	72061135	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr10:72061135T>G	ENST00000355790.4	-	5	1007	c.530A>C	c.(529-531)gAa>gCa	p.E177A	LRRC20_ENST00000395011.1_Missense_Mutation_p.E127A|LRRC20_ENST00000395010.1_Missense_Mutation_p.E121A|LRRC20_ENST00000358141.2_Missense_Mutation_p.E127A|LRRC20_ENST00000373224.1_Missense_Mutation_p.E177A	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	177										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TCTTGCGCCTTCCGGAGACAT	0.647																																																0			10											72	69	70					10																	72061135		2203	4300	6503	71731141	SO:0001583	missense	55222			BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.530A>C	10.37:g.72061135T>G	ENSP00000348043:p.Glu177Ala		71731141	Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	ENST00000355790.4	37	CCDS7302.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.281162	0.40394	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395011;ENST00000395010;ENST00000358141;ENST00000357631	T;T;T;T	0.35973	1.28;1.28;2.21;2.21	5.55	5.55	0.83447	.	0.089312	0.48767	D	0.000179	T	0.43188	0.1236	L	0.27053	0.805	0.33310	D	0.566012	D;B;P	0.67145	0.996;0.286;0.734	D;B;B	0.73708	0.981;0.095;0.321	T	0.50406	-0.8832	10	0.21540	T	0.41	-16.806	12.0863	0.53700	0.0:0.0:0.0:1.0	.	127;121;177	Q8TCA0-2;Q8TCA0-3;Q8TCA0	.;.;LRC20_HUMAN	A	177;177;127;121;127;121	ENSP00000362321:E177A;ENSP00000348043:E177A;ENSP00000378458:E127A;ENSP00000350860:E127A	ENSP00000348043:E177A	E	-	2	0	LRRC20	71731141	0.997000	0.39634	0.849000	0.33467	0.189000	0.23516	4.051000	0.57412	2.118000	0.64928	0.533000	0.62120	GAA		0.647	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048510.1	NM_018239		G	72061135	T	G	72061135	3	3	391	1	0	0	0	0	1	0	0	0	8977	1783	62	5	28	5	LRRC20	10	72061135	Missense_Mutation	SNP	T	TCGA-36-2542-01A-01D-1526-09	64455841	72061135	63473612	33	21298											
PKP3	11187	genome.wustl.edu	37	11	397268	397268	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:397268G>A	ENST00000331563.2	+	3	843	c.767G>A	c.(766-768)aGc>aAc	p.S256N		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	256					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGATTCCAGAGCAGCCACCGG	0.736																																																0			11											5	7	6					11																	397268		1854	3782	5636	387268	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.767G>A	11.37:g.397268G>A	ENSP00000331678:p.Ser256Asn		387268	F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	g	17.25	3.342317	0.61073	.	.	ENSG00000184363	ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80393	-1.37	3.83	3.83	0.44106	.	0.339854	0.29822	N	0.011111	T	0.71500	0.3347	L	0.40543	1.245	0.41455	D	0.988002	B	0.19583	0.037	B	0.12156	0.007	T	0.67173	-0.5737	9	.	.	.	-29.6139	13.6779	0.62465	0.0:0.1554:0.8446:0.0	.	256	Q9Y446	PKP3_HUMAN	N	100;100;100;256;198	ENSP00000331678:S256N	.	S	+	2	0	PKP3	387268	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.209000	0.51122	2.149000	0.67028	0.457000	0.33378	AGC		0.736	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		A	397268	G	A	397268	3	1	391	1	0	0	0	0	1	0	0	0	11986	971	34	2	777	2	PKP3	11	397268	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09		397268	134609248	34	21299											
TH	7054	genome.wustl.edu	37	11	2188191	2188191	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:2188191G>T	ENST00000381178.1	-	8	878	c.860C>A	c.(859-861)gCt>gAt	p.A287D	TH_ENST00000352909.3_Missense_Mutation_p.A256D|TH_ENST00000333684.5_Intron|TH_ENST00000381175.1_Missense_Mutation_p.A283D	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	287					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCCAGCAAAGCAAAGGCCTC	0.662																																																0			11											20	21	21					11																	2188191		2183	4283	6466	2144767	SO:0001583	missense	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.860C>A	11.37:g.2188191G>T	ENSP00000370571:p.Ala287Asp		2144767	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	7.998	0.754804	0.15846	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909	D;D;D	0.99507	-6.04;-6.04;-6.04	3.18	2.03	0.26663	Aromatic amino acid hydroxylase, C-terminal (3);	0.596241	0.18192	N	0.148784	D	0.95506	0.8540	N	0.03967	-0.31	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	D	0.90879	0.4752	10	0.44086	T	0.13	-22.955	5.3979	0.16278	0.0:0.1056:0.1879:0.7065	.	260;256;287;283	B7ZL73;P07101-3;P07101;P07101-2	.;.;TY3H_HUMAN;.	D	287;283;256	ENSP00000370571:A287D;ENSP00000370567:A283D;ENSP00000325951:A256D	ENSP00000325951:A256D	A	-	2	0	TH	2144767	0.008000	0.16893	0.263000	0.24496	0.078000	0.17371	0.116000	0.15561	0.422000	0.26005	0.313000	0.20887	GCT		0.662	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2188191	G	T	2188191	3	4	391	1	0	0	0	0	1	0	0	0	15838	971	34	3	754	3	TH	11	2188191	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09	1790923	2188191	132818325	35	21300											
PGAP2	27315	genome.wustl.edu	37	11	3838603	3838603	+	Intron	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:3838603C>A	ENST00000463452.2	+	2	248				PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396993.4_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396991.2_Missense_Mutation_p.F62L|PGAP2_ENST00000278243.4_Missense_Mutation_p.F62L|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.F62L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GCAGGATGTTCTCTGCGGCCT	0.597																																																1	Substitution - Missense(1)	large_intestine(1)	11											125	115	118					11																	3838603		2201	4298	6499	3795179	SO:0001627	intron_variant	27315			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"FGF receptor activating protein 1", "cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"	615187	"mental retardation, non-syndromic, autosomal recessive, 21"	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.165+5949C>A	11.37:g.3838603C>A			3795179	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.749892|2.749892	0.49257|0.49257	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396991;ENST00000278243;ENST00000502872|ENST00000464906	.|.	.|.	.|.	5.53|5.53	2.43|2.43	0.29744|0.29744	.|.	0.277861|.	0.29053|.	N|.	0.013295|.	T|T	0.03564|0.03564	0.0102|0.0102	N|N	0.00034|0.00034	-2.56|-2.56	0.26521|0.26521	N|N	0.974425|0.974425	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38457|0.38457	-0.9660|-0.9660	9|5	0.07030|.	T|.	0.85|.	-12.5783|-12.5783	5.4408|5.4408	0.16507|0.16507	0.0:0.654:0.1657:0.1802|0.0:0.654:0.1657:0.1802	.|.	62|.	Q9UHJ9|.	PGAP2_HUMAN|.	L|Y	62;62;2|92	.|.	ENSP00000278243:F62L|.	F|S	+|+	3|2	2|0	PGAP2|PGAP2	3795179|3795179	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.081000|0.081000	0.14823|0.14823	1.330000|1.330000	0.45394|0.45394	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.597	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			A	3838603	C	A	3838603	1	1	391	0	1	0	0	0	0	0	0	0	11778	912	32	3		3	PGAP2	11	3838603	Intron	SNP	C	TCGA-36-2542-01A-01D-1526-09	1650412	3838603	131167913	36	21301											
MICAL2	9645	genome.wustl.edu	37	11	12284041	12284041	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:12284041C>A	ENST00000256194.4	+	27	3637	c.3349C>A	c.(3349-3351)Cca>Aca	p.P1117T	RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000342902.5_Missense_Mutation_p.P1096T|MICAL2_ENST00000537344.1_Missense_Mutation_p.P927T|MICAL2_ENST00000527546.1_Missense_Mutation_p.P927T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1117					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TTTCAGCCTTCCAGTGCTACA	0.443																																																0			11											169	152	158					11																	12284041		2201	4294	6495	12240617	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3349C>A	11.37:g.12284041C>A	ENSP00000256194:p.Pro1117Thr		12240617	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484296	0.84854	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902	T;T;T;T	0.63417	-0.03;-0.02;-0.03;-0.04	5.82	5.82	0.92795	.	0.233058	0.30901	N	0.008647	T	0.71467	0.3343	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.74074	-0.3782	10	0.87932	D	0	.	19.688	0.95987	0.0:1.0:0.0:0.0	.	1096;927;1117	G3XAC8;B7Z849;O94851	.;.;MICA2_HUMAN	T	927;1117;927;1096	ENSP00000441689:P927T;ENSP00000256194:P1117T;ENSP00000433965:P927T;ENSP00000344894:P1096T	ENSP00000256194:P1117T	P	+	1	0	MICAL2	12240617	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.199000	0.72112	2.756000	0.94617	0.561000	0.74099	CCA		0.443	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12284041	C	A	12284041	3	1	391	1	0	0	0	0	1	0	0	0	9570	855	30	3	3447	3	MICAL2	11	12284041	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	8445438	12284041	122722475	37	21302											
DRD2	1813	genome.wustl.edu	37	11	113295109	113295109	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:113295109G>A	ENST00000362072.3	-	2	609	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	DRD2_ENST00000355319.2_Missense_Mutation_p.P89S|DRD2_ENST00000346454.3_Missense_Mutation_p.P89S|DRD2_ENST00000538967.1_Missense_Mutation_p.P89S|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000544518.1_Missense_Mutation_p.P89S|DRD2_ENST00000542968.1_Missense_Mutation_p.P89S	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	89					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACAACCCAGGGCATGACCAGT	0.642																																																0			11											72	61	65					11																	113295109		2201	4296	6497	112800319	SO:0001583	missense	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.265C>T	11.37:g.113295109G>A	ENSP00000354859:p.Pro89Ser		112800319	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151678	0.94645	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.998;0.998;0.974;0.999	D	0.90050	0.4148	10	0.87932	D	0	.	18.9437	0.92613	0.0:0.0:1.0:0.0	.	89;89;89;89	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	S	89	ENSP00000347474:P89S;ENSP00000278597:P89S;ENSP00000354859:P89S;ENSP00000441068:P89S;ENSP00000442172:P89S;ENSP00000438215:P89S;ENSP00000438419:P89S	ENSP00000278597:P89S	P	-	1	0	DRD2	112800319	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.791000	0.99081	2.469000	0.83416	0.561000	0.74099	CCC		0.642	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		A	113295109	G	A	113295109	3	1	391	1	0	0	0	0	1	0	0	0	4757	1203	42	2	1094	2	DRD2	11	113295109	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09	101011068	113295109	21711407	38	21303											
OPCML	4978	genome.wustl.edu	37	11	132290133	132290133	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:132290133A>T	ENST00000331898.7	-	7	1570	c.992T>A	c.(991-993)cTc>cAc	p.L331H	OPCML_ENST00000524381.1_Missense_Mutation_p.L324H|OPCML_ENST00000541867.1_Missense_Mutation_p.L340H|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.L290H	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	331					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATAGCCAGAGACAAGCCAG	0.502																																																0			11											126	105	112					11																	132290133		2201	4297	6498	131795343	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.992T>A	11.37:g.132290133A>T	ENSP00000330862:p.Leu331His		131795343	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802891	0.70682	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.64803	0.26;0.23;0.44;-0.12	5.34	5.34	0.76211	.	0.567977	0.15924	N	0.237972	T	0.72137	0.3423	L	0.48642	1.525	0.42403	D	0.992573	D;D;D;D	0.71674	0.998;0.996;0.996;0.996	D;P;P;P	0.64595	0.927;0.88;0.88;0.88	T	0.73681	-0.3906	10	0.72032	D	0.01	-7.9476	13.5661	0.61819	1.0:0.0:0.0:0.0	.	340;324;330;331	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	H	331;324;290;298;340	ENSP00000330862:L331H;ENSP00000434750:L324H;ENSP00000363910:L290H;ENSP00000445496:L340H	ENSP00000330862:L331H	L	-	2	0	OPCML	131795343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.605000	0.67634	2.025000	0.59659	0.460000	0.39030	CTC		0.502	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		T	132290133	A	T	132290133	3	4	391	1	0	0	0	0	1	0	0	0	10874	304	11	5	49	5	OPCML	11	132290133	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09	18995024	132290133	2716383	39	21304											
C3AR1	719	genome.wustl.edu	37	12	8211663	8211663	+	Silent	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr12:8211663G>A	ENST00000307637.4	-	2	1322	c.1119C>T	c.(1117-1119)agC>agT	p.S373S		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	373					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GAAAGGTTTTGCTCTGAGACT	0.512																																																0			12											67	60	63					12																	8211663		2203	4300	6503	8102930	SO:0001819	synonymous_variant	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1119C>T	12.37:g.8211663G>A			8102930	O43771|Q92868	Silent	SNP	ENST00000307637.4	37	CCDS8588.1																																																																																				0.512	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			A	8211663	G	A	8211663	2	1	391	1	0	0	0	0	0	0	0	1	2205	1310	46	2		2	C3AR1	12	8211663	Silent	SNP	G	TCGA-36-2542-01A-01D-1526-09		8211663	125640232	40	21305											
TMEM106C	79022	genome.wustl.edu	37	12	48359760	48359760	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr12:48359760C>A	ENST00000429772.2	+	4	504	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TMEM106C_ENST00000550552.1_Missense_Mutation_p.L131I|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L131I|TMEM106C_ENST00000449758.2_Missense_Mutation_p.L131I|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Missense_Mutation_p.L60I|TMEM106C_ENST00000552561.1_Missense_Mutation_p.L131I	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	131						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GCAAGACTCCCTTGTAATTCT	0.478																																																0			12											207	187	194					12																	48359760		2203	4300	6503	46646027	SO:0001583	missense	79022			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.391C>A	12.37:g.48359760C>A	ENSP00000400471:p.Leu131Ile		46646027	B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	CCDS8758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.526|4.526	0.097546|0.097546	0.08681|0.08681	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640|ENST00000547682	T;T;T;T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92;1.92;1.92;1.92|.	4.68|4.68	3.79|3.79	0.43588|0.43588	.|.	0.522735|.	0.19313|.	N|.	0.117341|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.25890|0.25890	0.77|0.77	0.19300|0.19300	N|N	0.999975|0.999975	P;B|.	0.34462|.	0.454;0.4|.	B;B|.	0.31016|.	0.123;0.11|.	T|T	0.21552|0.21552	-1.0242|-1.0242	10|5	0.19147|.	T|.	0.46|.	4.4175|4.4175	12.7366|12.7366	0.57228|0.57228	0.0:0.5655:0.4345:0.0|0.0:0.5655:0.4345:0.0	.|.	131;131|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	I|H	131;131;60;131;131;131;60|17	ENSP00000256686:L131I;ENSP00000446657:L131I;ENSP00000448268:L60I;ENSP00000449737:L131I;ENSP00000400471:L131I;ENSP00000402705:L131I;ENSP00000447254:L60I|.	ENSP00000256686:L131I|.	L|P	+|+	1|2	0|0	TMEM106C|TMEM106C	46646027|46646027	0.767000|0.767000	0.28508|0.28508	0.927000|0.927000	0.36925|0.36925	0.159000|0.159000	0.22180|0.22180	1.028000|1.028000	0.30128|0.30128	1.562000|1.562000	0.49601|0.49601	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.478	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056		A	48359760	C	A	48359760	3	1	391	1	0	0	0	0	1	0	0	0	16022	681	24	3	401	3	TMEM106C	12	48359760	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	40148097	48359760	85492135	41	21306											
OR6S1	341799	genome.wustl.edu	37	14	21109629	21109629	+	Silent	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr14:21109629C>T	ENST00000320704.3	-	1	221	c.222G>A	c.(220-222)ctG>ctA	p.L74L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CAGAAGTGAGCAGTATCTCTA	0.448																																																0			14											120	113	115					14																	21109629		2203	4300	6503	20179469	SO:0001819	synonymous_variant	341799			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.222G>A	14.37:g.21109629C>T			20179469	Q6IFJ9	Silent	SNP	ENST00000320704.3	37	CCDS32038.1																																																																																				0.448	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			T	21109629	C	T	21109629	2	4	391	1	0	0	0	0	0	0	0	1	11209	697	25	2		2	OR6S1	14	21109629	Silent	SNP	C	TCGA-36-2542-01A-01D-1526-09		21109629	86239911	42	21307											
DACT1	51339	genome.wustl.edu	37	14	59113731	59113731	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr14:59113731C>T	ENST00000335867.4	+	4	2414	c.2390C>T	c.(2389-2391)aCg>aTg	p.T797M	DACT1_ENST00000556859.1_Missense_Mutation_p.T516M|DACT1_ENST00000541264.2_Missense_Mutation_p.T516M|DACT1_ENST00000395153.3_Missense_Mutation_p.T760M			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	797					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAAACGGTAACGGCCCCAGAC	0.527																																																0			14											96	101	99					14																	59113731		2203	4300	6503	58183484	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2390C>T	14.37:g.59113731C>T	ENSP00000337439:p.Thr797Met		58183484	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338677	0.41398	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.44	4.55	0.56014	.	0.763660	0.12520	N	0.461733	T	0.54532	0.1864	L	0.53249	1.67	0.20563	N	0.999881	D;D	0.63046	0.992;0.992	P;P	0.53861	0.736;0.736	T	0.51204	-0.8735	10	0.66056	D	0.02	-0.0061	16.3888	0.83525	0.0:0.8682:0.1318:0.0	.	760;797	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	M	516;516;760;797;516	ENSP00000451598:T516M;ENSP00000378581:T516M;ENSP00000378582:T760M;ENSP00000337439:T797M;ENSP00000442850:T516M	ENSP00000337439:T797M	T	+	2	0	DACT1	58183484	0.047000	0.20315	0.002000	0.10522	0.312000	0.27988	3.623000	0.54224	1.522000	0.49001	0.655000	0.94253	ACG		0.527	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		T	59113731	C	T	59113731	3	4	391	1	0	0	0	0	1	0	0	0	4222	536	19	1	2404	1	DACT1	14	59113731	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	38004102	59113731	48235809	43	21308											
SLC8A3	6547	genome.wustl.edu	37	14	70633718	70633718	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr14:70633718A>C	ENST00000381269.2	-	2	2175	c.1422T>G	c.(1420-1422)ttT>ttG	p.F474L	SLC8A3_ENST00000357887.3_Missense_Mutation_p.F474L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.F474L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.F474L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.F474L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	474	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CATCCTCCTCAAAAATGTCGT	0.512																																																0			14											155	157	156					14																	70633718		2203	4300	6503	69703471	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1422T>G	14.37:g.70633718A>C	ENSP00000370669:p.Phe474Leu		69703471	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778134	0.49786	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.52	1.87	0.25490	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.56521	0.97;0.976;0.958;0.958	D;D;D;D	0.74348	0.971;0.983;0.968;0.968	T	0.51498	-0.8698	10	0.87932	D	0	.	9.0908	0.36610	0.7885:0.0:0.2115:0.0	.	474;474;474;474	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	L	474	ENSP00000349392:F474L;ENSP00000370669:F474L;ENSP00000350560:F474L;ENSP00000436688:F474L;ENSP00000433531:F474L	ENSP00000349392:F474L	F	-	3	2	SLC8A3	69703471	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.377000	0.34317	0.365000	0.24400	-0.270000	0.10280	TTT		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			C	70633718	A	C	70633718	3	2	391	1	0	0	0	0	1	0	0	0	14711	127	5	5	1500	5	SLC8A3	14	70633718	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09	11519987	70633718	36715822	44	21309											
RCOR1	23186	genome.wustl.edu	37	14	103180760	103180760	+	Splice_Site	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr14:103180760G>A	ENST00000570597.1	+	8	850	c.850G>A	c.(850-852)Gtt>Att	p.V284I	RCOR1_ENST00000262241.6_Splice_Site_p.V287I			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	284					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TATCATGCAGGTTCCCCCTAC	0.338																																																0			14											48	44	45					14																	103180760		2203	4300	6503	102250513	SO:0001630	splice_region_variant	23186			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.850-1G>A	14.37:g.103180760G>A			102250513	Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37		.	.	.	.	.	.	.	.	.	.	G	12.80	2.045837	0.36085	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.93	5.93	0.95920	.	0.259771	0.38005	N	0.001850	T	0.59155	0.2173	L	0.44542	1.39	0.80722	D	1	P	0.52170	0.951	P	0.46718	0.525	T	0.54583	-0.8272	8	.	.	.	-13.3642	20.3311	0.98718	0.0:0.0:1.0:0.0	.	284	Q9UKL0	RCOR1_HUMAN	I	284	.	.	V	+	1	0	RCOR1	102250513	1.000000	0.71417	0.996000	0.52242	0.076000	0.17211	7.124000	0.77185	2.797000	0.96272	0.655000	0.94253	GTT		0.338	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156	Missense_Mutation	A	103180760	G	A	103180760	5	1	391	1	0	0	0	0	0	0	1	0	13185	1275	44	2	880	2	RCOR1	14	103180760	Splice_Site	SNP	G	TCGA-36-2542-01A-01D-1526-09	32547042	103180760	4168780	45	21310											
ELL3	80237	genome.wustl.edu	37	15	44067566	44067566	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr15:44067566C>T	ENST00000319359.3	-	6	1224	c.583G>A	c.(583-585)Gtt>Att	p.V195I	SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	195					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTGTTTGGAACATGGGTCTGG	0.443																																																0			15											45	45	45					15																	44067566		2198	4298	6496	41854858	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.583G>A	15.37:g.44067566C>T	ENSP00000320346:p.Val195Ile		41854858	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	37	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541925	0.27563	.	.	ENSG00000128886	ENST00000319359	T	0.29917	1.55	5.84	2.9	0.33743	.	0.752920	0.12203	N	0.490101	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28554	-1.0040	10	0.20519	T	0.43	-18.3618	4.0104	0.09619	0.0856:0.1645:0.5821:0.1678	.	195;195;149	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	I	195	ENSP00000320346:V195I	ENSP00000320346:V195I	V	-	1	0	ELL3	41854858	0.961000	0.32948	0.996000	0.52242	0.570000	0.35934	1.381000	0.34362	0.777000	0.33496	-0.359000	0.07587	GTT		0.443	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		T	44067566	C	T	44067566	3	4	391	1	0	0	0	0	1	0	0	0	5064	478	17	2	634	2	ELL3	15	44067566	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09		44067566	58463826	46	21311											
USP7	7874	genome.wustl.edu	37	16	8989591	8989591	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr16:8989591C>G	ENST00000344836.4	-	27	3025	c.2827G>C	c.(2827-2829)Gaa>Caa	p.E943Q	USP7_ENST00000535863.1_Missense_Mutation_p.E844Q|USP7_ENST00000381886.4_Missense_Mutation_p.E927Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	943					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTACAATTTCTAGCAGCCTG	0.333																																																0			16											49	48	48					16																	8989591		2197	4300	6497	8897092	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2827G>C	16.37:g.8989591C>G	ENSP00000343535:p.Glu943Gln		8897092	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766487	0.90020	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.09350	2.99;3.0	5.64	5.64	0.86602	.	0.424754	0.26594	N	0.023501	T	0.21062	0.0507	L	0.58810	1.83	0.80722	D	1	P;P	0.44578	0.838;0.838	P;P	0.46758	0.526;0.526	T	0.00151	-1.1985	10	0.48119	T	0.1	.	19.6975	0.96031	0.0:1.0:0.0:0.0	.	943;927	Q93009;B7Z815	UBP7_HUMAN;.	Q	943;951;844	ENSP00000343535:E943Q;ENSP00000443646:E844Q	ENSP00000343535:E943Q	E	-	1	0	USP7	8897092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.700000	0.84556	2.657000	0.90304	0.650000	0.86243	GAA		0.333	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			G	8989591	C	G	8989591	3	3	391	1	0	0	0	0	1	0	0	0	17088	922	32	3	501	3	USP7	16	8989591	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09		8989591	81365162	47	21312											
SLC5A11	115584	genome.wustl.edu	37	16	24922749	24922749	+	Silent	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr16:24922749C>G	ENST00000347898.3	+	16	2545	c.1923C>G	c.(1921-1923)gcC>gcG	p.A641A	SLC5A11_ENST00000568579.1_Silent_p.A571A|SLC5A11_ENST00000545376.1_Silent_p.A571A|SLC5A11_ENST00000567758.1_Silent_p.A606A|SLC5A11_ENST00000424767.2_Silent_p.A606A|SLC5A11_ENST00000565769.1_Silent_p.A577A|SLC5A11_ENST00000539472.1_Silent_p.A577A|SLC5A11_ENST00000569071.1_Silent_p.A485A|SLC5A11_ENST00000449109.2_Silent_p.A485A	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GAGCAGAAGCCATCATAGTTT	0.532																																																0			16											182	188	186					16																	24922749		2197	4300	6497	24830250	SO:0001819	synonymous_variant	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1923C>G	16.37:g.24922749C>G			24830250		Silent	SNP	ENST00000347898.3	37	CCDS10625.1																																																																																				0.532	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		G	24922749	C	G	24922749	2	3	391	1	0	0	0	0	0	0	0	1	14666	581	21	3		3	SLC5A11	16	24922749	Silent	SNP	C	TCGA-36-2542-01A-01D-1526-09	15933158	24922749	65432004	48	21313											
TP53	7157	genome.wustl.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr17:7577105G>C	ENST00000269305.4	-	8	1022	c.833C>G	c.(832-834)cCt>cGt	p.P278R	TP53_ENST00000455263.2_Missense_Mutation_p.P278R|TP53_ENST00000420246.2_Missense_Mutation_p.P278R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P278R	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTCTCTCCCAGGACAGGCACA	0.552		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"	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	17	GRCh37	CM961376	TP53	M							72	63	66					17																	7577105		2203	4300	6503	7517830	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.833C>G	17.37:g.7577105G>C	ENSP00000269305:p.Pro278Arg		7517830	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	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422173	0.83559	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	278;278;278;278;278;267;146	ENSP00000352610:P278R;ENSP00000269305:P278R;ENSP00000398846:P278R;ENSP00000391127:P278R;ENSP00000391478:P278R;ENSP00000425104:P146R	ENSP00000269305:P278R	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577105	G	C	7577105	3	2	391	1	0	0	0	0	1	0	0	0	16381	1000	35	3	453	3	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09		7577105	73618105	49	21314											
GFAP	2670	genome.wustl.edu	37	17	42988741	42988741	+	Silent	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr17:42988741C>T	ENST00000253408.5	-	6	1055	c.990G>A	c.(988-990)cgG>cgA	p.R330R	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000435360.2_Silent_p.R330R|GFAP_ENST00000586793.1_Silent_p.R330R	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	330	Coil 2B.|Rod.		R -> G (in ALEXD; associated with Lys- 332). {ECO:0000269|PubMed:18004641}.		astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CTTCCTCCAGCCGCGCCAGCG	0.657																																																0			17											47	45	46					17																	42988741		2203	4300	6503	40344267	SO:0001819	synonymous_variant	2670			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.990G>A	17.37:g.42988741C>T			40344267	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	CCDS11491.1																																																																																				0.657	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		T	42988741	C	T	42988741	2	4	391	1	0	0	0	0	0	0	0	1	6337	726	26	2		2	GFAP	17	42988741	Silent	SNP	C	TCGA-36-2542-01A-01D-1526-09	35411636	42988741	38206469	50	21315											
METTL2A	339175	genome.wustl.edu	37	17	60526037	60526037	+	Missense_Mutation	SNP	C	C	G	rs192611601		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr17:60526037C>G	ENST00000311506.5	+	9	1120	c.1084C>G	c.(1084-1086)Cgg>Ggg	p.R362G		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	362					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GACAATGTACCGGGTTTGGAT	0.542																																																0			17											159	160	160					17																	60526037		2203	4300	6503	57879769	SO:0001583	missense	339175			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.1084C>G	17.37:g.60526037C>G	ENSP00000309610:p.Arg362Gly		57879769	A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	37	CCDS45752.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417255	0.62622	.	.	ENSG00000087995	ENST00000311506	T	0.03801	3.8	4.48	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.48186	-0.9057	10	0.87932	D	0	-0.1491	11.5267	0.50584	0.1805:0.8194:0.0:0.0	.	362	Q96IZ6	MTL2A_HUMAN	G	362	ENSP00000309610:R362G	ENSP00000309610:R362G	R	+	1	2	METTL2A	57879769	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.732000	0.55021	0.856000	0.35383	0.505000	0.49811	CGG		0.542	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		G	60526037	C	G	60526037	3	3	391	1	0	0	0	0	1	0	0	0	9499	643	23	3	1118	3	METTL2A	17	60526037	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	17537296	60526037	20669173	51	21316											
DCC	1630	genome.wustl.edu	37	18	50912510	50912510	+	Splice_Site	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr18:50912510T>A	ENST00000442544.2	+	16	3071		c.e16+2		DCC_ENST00000412726.1_Splice_Site|DCC_ENST00000581580.1_Splice_Site	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTATAACCGGTAAGTGAAATT	0.328																																																0			18											74	71	72					18																	50912510		2203	4300	6503	49166508	SO:0001630	splice_region_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2455+2T>A	18.37:g.50912510T>A			49166508		Splice_Site	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375880	0.82682	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCC	49166508	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.693000	0.84214	2.371000	0.80710	0.533000	0.62120	.		0.328	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Intron	A	50912510	T	A	50912510	5	1	391	1	0	0	0	0	0	0	1	0	4282	1652	57	5	2519	5	DCC	18	50912510	Splice_Site	SNP	T	TCGA-36-2542-01A-01D-1526-09		50912510	27164738	52	21317											
BSG	682	genome.wustl.edu	37	19	581411	581411	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:581411G>A	ENST00000333511.3	+	6	959	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	BSG_ENST00000346916.4_Missense_Mutation_p.G117S|BSG_ENST00000545507.2_Missense_Mutation_p.G88S|BSG_ENST00000353555.4_Missense_Mutation_p.G181S	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	297	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGACCCCGGCCAGTACCG	0.657																																																0			19											37	36	37					19																	581411		2201	4299	6500	532411	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.889G>A	19.37:g.581411G>A	ENSP00000333769:p.Gly297Ser		532411	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076097	0.94000	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.80994	-1.44;-1.44;-1.44	4.01	4.01	0.46588	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123706	0.56097	D	0.000040	D	0.91092	0.7196	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.988;0.993;0.993;0.993;0.993	D	0.92613	0.6101	10	0.87932	D	0	-51.3687	11.3758	0.49726	0.0:0.1834:0.8166:0.0	.	181;297;181;297;117	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	S	117;88;297;181	ENSP00000344707:G117S;ENSP00000333769:G297S;ENSP00000343809:G181S	ENSP00000333769:G297S	G	+	1	0	BSG	532411	1.000000	0.71417	0.854000	0.33618	0.108000	0.19459	7.547000	0.82146	2.087000	0.62958	0.462000	0.41574	GGC		0.657	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		A	581411	G	A	581411	3	1	391	1	0	0	0	0	1	0	0	0	1529	1116	39	1	947	1	BSG	19	581411	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09		581411	58547572	53	21318											
GNA11	2767	genome.wustl.edu	37	19	3119342	3119342	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:3119342T>G	ENST00000078429.4	+	6	1116	c.874T>G	c.(874-876)Ttc>Gtc	p.F292V	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	292					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GGTGGACTACTTCCCCGAGTT	0.622			Mis		uveal melanoma																																		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	0			19											86	72	77					19																	3119342		2203	4300	6503	3070342	SO:0001583	missense	2767			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.874T>G	19.37:g.3119342T>G	ENSP00000078429:p.Phe292Val		3070342	O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	19.64	3.865872	0.71949	.	.	ENSG00000088256	ENST00000078429	D	0.90069	-2.61	4.14	4.14	0.48551	.	0.402144	0.24330	N	0.039471	D	0.95214	0.8448	M	0.92880	3.355	0.58432	D	0.999999	D	0.63880	0.993	D	0.77004	0.989	D	0.95728	0.8772	10	0.87932	D	0	.	11.9994	0.53222	0.0:0.0:0.0:1.0	.	292	P29992	GNA11_HUMAN	V	292	ENSP00000078429:F292V	ENSP00000078429:F292V	F	+	1	0	GNA11	3070342	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.053000	0.71089	1.519000	0.48950	0.402000	0.26972	TTC		0.622	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		G	3119342	T	G	3119342	3	3	391	1	0	0	0	0	1	0	0	0	6499	1609	56	5	896	5	GNA11	19	3119342	Missense_Mutation	SNP	T	TCGA-36-2542-01A-01D-1526-09	2537931	3119342	56009641	54	21319											
STX10	8677	genome.wustl.edu	37	19	13260652	13260652	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:13260652A>G	ENST00000587230.1	-	2	159	c.95T>C	c.(94-96)cTg>cCg	p.L32P	STX10_ENST00000343587.5_Missense_Mutation_p.L32P|IER2_ENST00000587885.1_5'Flank|IER2_ENST00000588173.1_5'Flank|STX10_ENST00000589083.1_Missense_Mutation_p.L32P|IER2_ENST00000292433.3_5'Flank|STX10_ENST00000242770.5_Missense_Mutation_p.L32P	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	32					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCTTTCCTGCAGGAGCTCGCA	0.716											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											29	27	28					19																	13260652		2203	4299	6502	13121652	SO:0001583	missense	8677			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.95T>C	19.37:g.13260652A>G	ENSP00000466298:p.Leu32Pro	686	13121652	A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	ENST00000587230.1	37	CCDS32922.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654399	0.47467	.	.	ENSG00000104915	ENST00000343587;ENST00000242770;ENST00000440593	.	.	.	4.3	2.12	0.27331	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.000000	0.50627	U	0.000103	T	0.68915	0.3053	M	0.79805	2.47	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.66866	-0.5815	9	0.29301	T	0.29	.	4.5184	0.11947	0.7243:0.0:0.1008:0.1748	.	32	O60499	STX10_HUMAN	P	32	.	ENSP00000242770:L32P	L	-	2	0	STX10	13121652	1.000000	0.71417	0.654000	0.29608	0.143000	0.21401	5.481000	0.66826	1.816000	0.52996	0.460000	0.39030	CTG		0.716	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		G	13260652	A	G	13260652	3	3	391	1	0	0	0	0	1	0	0	0	15338	188	7	4	681	4	STX10	19	13260652	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09	10141310	13260652	45868331	55	21320											
PRODH2	58510	genome.wustl.edu	37	19	36303778	36303778	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:36303778C>G	ENST00000301175.3	-	2	175	c.158G>C	c.(157-159)gGc>gCc	p.G53A		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	53					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCCCTTGCCCAGACCAGG	0.552																																																0			19											22	21	21					19																	36303778		2202	4300	6502	40995618	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.158G>C	19.37:g.36303778C>G	ENSP00000301175:p.Gly53Ala		40995618		Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840900	0.32513	.	.	ENSG00000250799	ENST00000301175	T	0.25250	1.81	4.95	2.85	0.33270	.	.	.	.	.	T	0.13884	0.0336	N	0.14661	0.345	0.80722	D	1	B	0.33826	0.427	B	0.32211	0.142	T	0.07986	-1.0744	9	0.66056	D	0.02	.	7.6185	0.28171	0.0:0.8247:0.0:0.1753	.	53	Q9UF12	PROD2_HUMAN	A	53	ENSP00000301175:G53A	ENSP00000301175:G53A	G	-	2	0	PRODH2	40995618	0.790000	0.28787	0.838000	0.33150	0.117000	0.20001	1.004000	0.29822	0.678000	0.31325	0.591000	0.81541	GGC		0.552	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		G	36303778	C	G	36303778	3	3	391	1	0	0	0	0	1	0	0	0	12552	739	26	3	1492	3	PRODH2	19	36303778	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	23043126	36303778	22825205	56	21321											
ZNF585A	199704	genome.wustl.edu	37	19	37646781	37646781	+	Missense_Mutation	SNP	C	C	T	rs374585649		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:37646781C>T	ENST00000356958.4	-	4	536	c.278G>A	c.(277-279)cGt>cAt	p.R93H	ZNF585A_ENST00000392157.2_Missense_Mutation_p.R38H|ZNF585A_ENST00000355533.2_Missense_Mutation_p.R38H|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R38H			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCAGCTCTGACGTGGCCTCTC	0.507																																																0			19						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	149	119	129		113,113	-4.1	0	19		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF585A	NM_152655.2,NM_199126.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	38/715,38/715	37646781	1,13005	2203	4300	6503	42338621	SO:0001583	missense	199704			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.278G>A	19.37:g.37646781C>T	ENSP00000349440:p.Arg93His		42338621	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	6.085	0.384019	0.11524	0.0	1.16E-4	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.08546	3.14;3.23;3.23;3.08	3.36	-4.05	0.03998	Krueppel-associated box (1);	1.894880	0.03168	N	0.170296	T	0.04137	0.0115	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40403	-0.9565	10	0.49607	T	0.09	.	5.0255	0.14383	0.175:0.5046:0.0:0.3204	.	93	Q6P3V2	Z585A_HUMAN	H	93;38;38;38	ENSP00000349440:R93H;ENSP00000292841:R38H;ENSP00000375998:R38H;ENSP00000347724:R38H	ENSP00000292841:R38H	R	-	2	0	ZNF585A	42338621	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-2.417000	0.01034	-1.076000	0.03125	-1.369000	0.01192	CGT		0.507	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		T	37646781	C	T	37646781	3	4	391	1	0	0	0	0	1	0	0	0	18017	536	19	1	2039	1	ZNF585A	19	37646781	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	1343003	37646781	21482202	57	21322											
PRKD2	25865	genome.wustl.edu	37	19	47217202	47217202	+	Silent	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:47217202G>A	ENST00000291281.4	-	2	522	c.297C>T	c.(295-297)gaC>gaT	p.D99D	PRKD2_ENST00000595515.1_Silent_p.D99D|PRKD2_ENST00000600194.1_5'UTR|PRKD2_ENST00000433867.1_Silent_p.D99D|PRKD2_ENST00000601806.1_5'UTR			Q9BZL6	KPCD2_HUMAN	protein kinase D2	99					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCGACGTGGGGTCATGTTTGA	0.627																																																0			19											81	73	76					19																	47217202		2203	4300	6503	51909042	SO:0001819	synonymous_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.297C>T	19.37:g.47217202G>A			51909042	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	CCDS12689.1																																																																																				0.627	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		A	47217202	G	A	47217202	2	1	391	1	0	0	0	0	0	0	0	1	12522	1252	44	2		2	PRKD2	19	47217202	Silent	SNP	G	TCGA-36-2542-01A-01D-1526-09	9570421	47217202	11911781	58	21323											
RCN3	57333	genome.wustl.edu	37	19	50040395	50040395	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:50040395C>T	ENST00000270645.3	+	4	998	c.551C>T	c.(550-552)aCt>aTt	p.T184I		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	184	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TCGATGGCCACTCGAGAGGAG	0.612																																																0			19											140	138	139					19																	50040395		2203	4300	6503	54732207	SO:0001583	missense	57333			AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"EF-hand domain containing"	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.551C>T	19.37:g.50040395C>T	ENSP00000270645:p.Thr184Ile		54732207	Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315728	0.81469	.	.	ENSG00000142552	ENST00000270645	T	0.58652	0.32	5.05	5.05	0.67936	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.91768	3.24	0.53005	D	0.999968	D	0.59357	0.985	P	0.53360	0.724	D	0.83404	0.0024	10	0.87932	D	0	-15.4879	17.1735	0.86835	0.0:1.0:0.0:0.0	.	184	Q96D15	RCN3_HUMAN	I	184	ENSP00000270645:T184I	ENSP00000270645:T184I	T	+	2	0	RCN3	54732207	0.990000	0.36364	0.999000	0.59377	0.862000	0.49288	2.902000	0.48703	2.366000	0.80165	0.313000	0.20887	ACT		0.612	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		T	50040395	C	T	50040395	3	4	391	1	0	0	0	0	1	0	0	0	13184	565	20	2	561	2	RCN3	19	50040395	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	2823193	50040395	9088588	59	21324											
SALL4	57167	genome.wustl.edu	37	20	50405670	50405670	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr20:50405670A>T	ENST00000217086.4	-	3	2583	c.2472T>A	c.(2470-2472)agT>agA	p.S824R	SALL4_ENST00000371539.3_Missense_Mutation_p.S47R|SALL4_ENST00000395997.3_Missense_Mutation_p.S387R|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	824					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAAGGGAGACTGCTCCGAC	0.483																																																0			20											43	44	44					20																	50405670		2203	4300	6503	49839077	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2472T>A	20.37:g.50405670A>T	ENSP00000217086:p.Ser824Arg		49839077	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021137	0.54576	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.10005	2.92;3.18;3.18	5.73	-8.73	0.00841	.	0.258640	0.27821	N	0.017720	T	0.05410	0.0143	L	0.29908	0.895	0.09310	N	0.999997	B;P;P	0.50710	0.001;0.8;0.938	B;B;B	0.44315	0.002;0.368;0.446	T	0.23368	-1.0190	10	0.13108	T	0.6	-1.977	8.8274	0.35063	0.2989:0.0872:0.5282:0.0857	.	387;47;824	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	R	824;387;47	ENSP00000217086:S824R;ENSP00000379319:S387R;ENSP00000360594:S47R	ENSP00000217086:S824R	S	-	3	2	SALL4	49839077	0.001000	0.12720	0.216000	0.23742	0.680000	0.39746	-0.596000	0.05720	-1.784000	0.01272	0.533000	0.62120	AGT		0.483	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			T	50405670	A	T	50405670	3	4	391	1	0	0	0	0	1	0	0	0	13816	272	10	5	697	5	SALL4	20	50405670	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09		50405670	12619850	60	21325											
PRPF6	57473	genome.wustl.edu	37	20	62624829	62624829	+	Intron	SNP	A	A	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr20:62624829A>C	ENST00000450537.1	-	2	56				PRPF6_ENST00000535781.1_Silent_p.S143S|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGCAGTTCTCAGACCTCAAGG	0.463																																																0			20											116	92	100					20																	62624829		2203	4300	6503	62095273	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-25521T>G	20.37:g.62624829A>C			62095273	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																				0.463	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		C	62624829	A	C	62624829	1	2	391	0	1	0	0	0	0	0	0	0	12577	175	7	5		5	PRPF6	20	62624829	Intron	SNP	A	TCGA-36-2542-01A-01D-1526-09	12219159	62624829	400691	61	21326											
SYNJ1	8867	genome.wustl.edu	37	21	34018831	34018831	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr21:34018831G>A	ENST00000322229.7	-	23	3118	c.3119C>T	c.(3118-3120)aCt>aTt	p.T1040I	SYNJ1_ENST00000382499.2_Missense_Mutation_p.T1079I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.T1040I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.T1079I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.T1035I			O43426	SYNJ1_HUMAN	synaptojanin 1	1040	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCTGGGGGAAGTACCAAGGCC	0.527																																																0			21											146	138	141					21																	34018831		2203	4300	6503	32940702	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3119C>T	21.37:g.34018831G>A	ENSP00000322234:p.Thr1040Ile		32940702	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590958	0.46214	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.93604	-2.45;-3.23;-3.25;-2.4;-2.42	5.42	3.62	0.41486	.	0.720147	0.14347	N	0.325356	D	0.87633	0.6226	L	0.29908	0.895	0.33726	D	0.617621	P;B;B;B;B	0.35433	0.501;0.0;0.001;0.0;0.145	B;B;B;B;B	0.29942	0.109;0.001;0.003;0.002;0.075	D	0.87330	0.2324	10	0.59425	D	0.04	.	11.3315	0.49479	0.1458:0.0:0.8542:0.0	.	1035;1079;1040;1040;1040	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	1035;1040;1079;1079;1040	ENSP00000371931:T1035I;ENSP00000349903:T1040I;ENSP00000371939:T1079I;ENSP00000409667:T1079I;ENSP00000322234:T1040I	ENSP00000322234:T1040I	T	-	2	0	SYNJ1	32940702	1.000000	0.71417	0.626000	0.29213	0.975000	0.68041	4.534000	0.60622	0.663000	0.31027	0.655000	0.94253	ACT		0.527	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	34018831	G	A	34018831	3	1	391	1	0	0	0	0	1	0	0	0	15452	1029	36	2	1663	2	SYNJ1	21	34018831	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09		34018831	14111064	62	21327											
SIM2	6493	genome.wustl.edu	37	21	38072127	38072127	+	Silent	SNP	C	C	A	rs202090892		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr21:38072127C>A	ENST00000290399.6	+	1	694	c.81C>A	c.(79-81)ctC>ctA	p.L27L	SIM2_ENST00000430056.3_Silent_p.L27L|SIM2_ENST00000460783.1_3'UTR|AP000697.6_ENST00000430607.1_RNA	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	27	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCAAGCTGCTCCCGCTGCCGT	0.607																																																0			21											96	72	80					21																	38072127		2202	4297	6499	36993997	SO:0001819	synonymous_variant	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.81C>A	21.37:g.38072127C>A			36993997	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	CCDS13646.1																																																																																				0.607	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		A	38072127	C	A	38072127	2	1	391	1	0	0	0	0	0	0	0	1	14327	842	30	3		3	SIM2	21	38072127	Silent	SNP	C	TCGA-36-2542-01A-01D-1526-09	4053296	38072127	10057768	63	21328											
AIRE	326	genome.wustl.edu	37	21	45712971	45712971	+	Silent	SNP	G	G	T	rs572680101	byFrequency	TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr21:45712971G>T	ENST00000291582.5	+	10	1318	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L	AIRE_ENST00000329347.4_Intron|AIRE_ENST00000355347.4_Silent_p.L190L	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	397					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		ACAAGCACCTGCCGGCTCCGC	0.677									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				G|||	3	0.000599042	0	0	5008	,	,		10798	0		0	False		,,,				2504	0.0031															0			21											25	30	28					21																	45712971		2193	4297	6490	44537399	SO:0001819	synonymous_variant	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1191G>T	21.37:g.45712971G>T			44537399	B2RP50|O43922|O43932|O75745	Silent	SNP	ENST00000291582.5	37	CCDS13706.1																																																																																				0.677	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			T	45712971	G	T	45712971	2	4	391	1	0	0	0	0	0	0	0	1	437	1306	46	3		3	AIRE	21	45712971	Silent	SNP	G	TCGA-36-2542-01A-01D-1526-09	7640844	45712971	2416924	64	21329											
EP300	2033	genome.wustl.edu	37	22	41537079	41537079	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr22:41537079A>G	ENST00000263253.7	+	10	3125	c.1906A>G	c.(1906-1908)Aaa>Gaa	p.K636E		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	636	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCTAGCTGAGAAAATCTATAA	0.388			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0			22											57	55	56					22																	41537079		2203	4300	6503	39867025	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1906A>G	22.37:g.41537079A>G	ENSP00000263253:p.Lys636Glu		39867025	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.995716	0.93167	.	.	ENSG00000100393	ENST00000263253	D	0.88975	-2.45	5.29	5.29	0.74685	Coactivator CBP, KIX (4);	0.000000	0.48767	D	0.000164	D	0.94427	0.8207	M	0.80982	2.52	0.53005	D	0.999965	D	0.76494	0.999	D	0.87578	0.998	D	0.95154	0.8275	10	0.87932	D	0	-13.0297	15.5287	0.75932	1.0:0.0:0.0:0.0	.	636	Q09472	EP300_HUMAN	E	636	ENSP00000263253:K636E	ENSP00000263253:K636E	K	+	1	0	EP300	39867025	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.287000	0.95975	2.118000	0.64928	0.383000	0.25322	AAA		0.388	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		G	41537079	A	G	41537079	3	3	391	1	0	0	0	0	1	0	0	0	5148	247	9	4	1944	4	EP300	22	41537079	Missense_Mutation	SNP	A	TCGA-36-2542-01A-01D-1526-09		41537079	9767487	65	21330											
MCAT	27349	genome.wustl.edu	37	22	43529171	43529171	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr22:43529171C>T	ENST00000290429.6	-	4	1096	c.1051G>A	c.(1051-1053)Ggc>Agc	p.G351S	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	351					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				AGCTGCCTGCCAGGGCCTACT	0.582																																																0			22											150	153	152					22																	43529171		2203	4300	6503	41859115	SO:0001583	missense	27349			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1051G>A	22.37:g.43529171C>T	ENSP00000290429:p.Gly351Ser		41859115	B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691673	0.68271	.	.	ENSG00000100294	ENST00000290429	T	0.52983	0.64	5.46	5.46	0.80206	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase domain (1);	0.052475	0.85682	D	0.000000	T	0.74658	0.3745	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79284	-0.1867	10	0.87932	D	0	-8.5372	19.3175	0.94220	0.0:1.0:0.0:0.0	.	351	Q8IVS2	FABD_HUMAN	S	351	ENSP00000290429:G351S	ENSP00000290429:G351S	G	-	1	0	MCAT	41859115	1.000000	0.71417	0.049000	0.19019	0.019000	0.09904	7.433000	0.80362	2.563000	0.86464	0.655000	0.94253	GGC		0.582	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		T	43529171	C	T	43529171	3	4	391	1	0	0	0	0	1	0	0	0	9372	594	21	2	125	2	MCAT	22	43529171	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	1992092	43529171	7775395	66	21331											
CPT1B	1375	genome.wustl.edu	37	22	51015865	51015865	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr22:51015865C>A	ENST00000360719.2	-	3	306	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	CPT1B_ENST00000440709.1_Missense_Mutation_p.G57C|CHKB_ENST00000463053.1_5'Flank|CPT1B_ENST00000457250.1_Missense_Mutation_p.G57C|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Missense_Mutation_p.G57C|CPT1B_ENST00000405237.3_Missense_Mutation_p.G57C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.G57C|CPT1B_ENST00000434492.2_5'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	57					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGGGGCTGCCAGGGTACACG	0.597																																					Esophageal Squamous(170;988 1933 25577 30295 48163)											0			22											64	62	62					22																	51015865		2203	4300	6503	49362731	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.169G>T	22.37:g.51015865C>A	ENSP00000353945:p.Gly57Cys		49362731	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956537	0.92726	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	D;D;D;D;D;D;T	0.85258	-1.89;-1.89;-1.89;-1.86;-1.96;-1.89;-0.16	5.16	5.16	0.70880	.	0.059733	0.64402	D	0.000004	D	0.90721	0.7088	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;0.981;0.999	D;P;D	0.68353	0.957;0.827;0.91	D	0.91706	0.5377	10	0.87932	D	0	-26.206	16.1155	0.81304	0.0:1.0:0.0:0.0	.	57;57;57	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	C	57	ENSP00000385486:G57C;ENSP00000312189:G57C;ENSP00000353945:G57C;ENSP00000409342:G57C;ENSP00000414713:G57C;ENSP00000379011:G57C;ENSP00000406316:G57C	ENSP00000312189:G57C	G	-	1	0	CPT1B	49362731	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.492000	0.81482	2.402000	0.81655	0.561000	0.74099	GGC		0.597	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		A	51015865	C	A	51015865	3	1	391	1	0	0	0	0	1	0	0	0	3832	594	21	3	2217	3	CPT1B	22	51015865	Missense_Mutation	SNP	C	TCGA-36-2542-01A-01D-1526-09	7486694	51015865	288701	67	21332											
PTCHD1	139411	genome.wustl.edu	37	X	23412062	23412062	+	Silent	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chrX:23412062G>C	ENST00000379361.4	+	3	3287	c.2427G>C	c.(2425-2427)ctG>ctC	p.L809L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	809					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTGTTGGTCTGATTCCTCTTG	0.413																																																0			X											190	154	166					X																	23412062		2203	4300	6503	23321983	SO:0001819	synonymous_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2427G>C	X.37:g.23412062G>C			23321983	B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	CCDS35215.2																																																																																				0.413	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		C	23412062	G	C	23412062	2	2	391	1	0	0	0	0	0	0	0	1	12735	1277	45	3		3	PTCHD1	23	23412062	Silent	SNP	G	TCGA-36-2542-01A-01D-1526-09		23412062	131858498	68	21333											
TSPYL2	64061	genome.wustl.edu	37	X	53115193	53115193	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chrX:53115193G>A	ENST00000375442.4	+	6	1751	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	540	Asn-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						aacacttacggcaacaacTTC	0.463																																																0			X											214	145	169					X																	53115193		2186	4262	6448	53131918	SO:0001583	missense	64061			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1619G>A	X.37:g.53115193G>A	ENSP00000364591:p.Gly540Asp		53131918	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520154	0.44866	.	.	ENSG00000184205	ENST00000375442	T	0.26810	1.71	2.43	2.43	0.29744	.	3.207140	0.01465	N	0.016056	T	0.32763	0.0840	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.998	T	0.47724	-0.9095	10	0.87932	D	0	-0.5258	7.6494	0.28340	0.0:0.0:1.0:0.0	.	180;540	Q59GC7;Q9H2G4	.;TSYL2_HUMAN	D	540	ENSP00000364591:G540D	ENSP00000364591:G540D	G	+	2	0	TSPYL2	53131918	0.000000	0.05858	0.040000	0.18447	0.135000	0.20990	-0.062000	0.11674	1.507000	0.48752	0.282000	0.19409	GGC		0.463	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		A	53115193	G	A	53115193	3	1	391	1	0	0	0	0	1	0	0	0	16660	1203	42	2	1641	2	TSPYL2	23	53115193	Missense_Mutation	SNP	G	TCGA-36-2542-01A-01D-1526-09	29703131	53115193	102155367	69	21334											
IL1RAPL2	26280	genome.wustl.edu	37	X	105011288	105011288	+	Silent	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chrX:105011288T>A	ENST00000372582.1	+	11	2451	c.1695T>A	c.(1693-1695)ccT>ccA	p.P565P	IL1RAPL2_ENST00000344799.4_Silent_p.P565P	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	565					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATGCTACCTCGGTGCCATG	0.438																																																0			X											85	88	87					X																	105011288		2203	4300	6503	104897944	SO:0001819	synonymous_variant	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1695T>A	X.37:g.105011288T>A			104897944	Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	CCDS14517.1																																																																																				0.438	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		A	105011288	T	A	105011288	2	1	391	1	0	0	0	0	0	0	0	1	7662	1538	54	5		5	IL1RAPL2	23	105011288	Silent	SNP	T	TCGA-36-2542-01A-01D-1526-09	51896095	105011288	50259272	70	21335											
UPF3B	65109	genome.wustl.edu	37	X	118972370	118972370	+	Nonsense_Mutation	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chrX:118972370T>A	ENST00000276201.2	-	9	1036	c.967A>T	c.(967-969)Aag>Tag	p.K323*	UPF3B_ENST00000345865.2_Nonsense_Mutation_p.K310*|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	323	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCAGAACGCTTGGGCAATGTA	0.378																																																0			X											179	148	159					X																	118972370		2203	4300	6503	118856398	SO:0001587	stop_gained	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.967A>T	X.37:g.118972370T>A	ENSP00000276201:p.Lys323*		118856398	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Nonsense_Mutation	SNP	ENST00000276201.2	37	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	T	35	5.422595	0.96111	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	.	.	.	5.61	5.61	0.85477	.	0.206543	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5745	0.61866	0.0:0.0:0.0:1.0	.	.	.	.	X	323;310	.	ENSP00000276201:K323X	K	-	1	0	UPF3B	118856398	1.000000	0.71417	0.258000	0.24420	0.923000	0.55619	5.074000	0.64401	1.885000	0.54596	0.427000	0.28365	AAG		0.378	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			A	118972370	T	A	118972370	4	1	391	1	0	0	0	0	0	1	0	0	17006	1821	63	5	496	5	UPF3B	23	118972370	Nonsense_Mutation	SNP	T	TCGA-36-2542-01A-01D-1526-09	13961082	118972370	36298190	71	21336											
GRIK3	2899	genome.wustl.edu	37	1	37291203	37291203	+	Splice_Site	SNP	C	C	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr1:37291203C>A	ENST00000373091.3	-	11	1771		c.e11+1		GRIK3_ENST00000373093.4_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AATTGCCTTACCTGGCGATGA	0.582																																																0			1											56	54	55					1																	37291203		2203	4300	6503	37063790	SO:0001630	splice_region_variant	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1754+1G>T	1.37:g.37291203C>A			37063790	A9Z1Z8|B1AMS6|Q13004|Q16136	Splice_Site	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811830	0.90707	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0292	0.92948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK3	37063790	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.720000	0.84759	2.492000	0.84095	0.563000	0.77884	.		0.582	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	Intron	A	37291203	C	A	37291203	5	1	392	1	0	0	0	0	0	0	1	0	6775	521	18	3	1028	3	GRIK3	1	37291203	Splice_Site	SNP	C	TCGA-36-2543-01A-01D-1526-09		37291203	211959418	1	21337											
PTPRF	5792	genome.wustl.edu	37	1	44070598	44070598	+	Missense_Mutation	SNP	C	C	T	rs147874335		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr1:44070598C>T	ENST00000359947.4	+	17	3402	c.3062C>T	c.(3061-3063)gCg>gTg	p.A1021V	PTPRF_ENST00000422171.2_Missense_Mutation_p.A369V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.A1012V|PTPRF_ENST00000372413.3_Missense_Mutation_p.A1012V|PTPRF_ENST00000372414.3_Missense_Mutation_p.A1021V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1021	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCCGGGTGGCGGCTGCAATG	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		21066	0		0	False		,,,				2504	0															0			1						C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	117	120	119		3062,3035	1.3	0.9	1	dbSNP_134	119	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	PTPRF	NM_002840.3,NM_130440.2	64,64	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign,benign	1021/1908,1012/1899	44070598	5,13001	2203	4300	6503	43843185	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3062C>T	1.37:g.44070598C>T	ENSP00000353030:p.Ala1021Val		43843185	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.87|14.87	2.665441|2.665441	0.47677|0.47677	0.0|0.0	5.81E-4|5.81E-4	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	T;T;T;T;T;T|.	0.51574|.	0.7;0.7;0.7;0.7;0.7;0.71|.	4.91|4.91	1.28|1.28	0.21552|0.21552	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.259629|.	0.20302|.	N|.	0.095002|.	T|T	0.26085|0.26085	0.0636|0.0636	N|N	0.14661|0.14661	0.345|0.345	0.29885|0.29885	N|N	0.825714|0.825714	B;B;B;D;P|.	0.69078|.	0.007;0.0;0.01;0.997;0.531|.	B;B;B;P;B|.	0.55345|.	0.003;0.001;0.006;0.774;0.109|.	T|T	0.29150|0.29150	-1.0021|-1.0021	10|5	0.27785|.	T|.	0.31|.	.|.	9.2697|9.2697	0.37664|0.37664	0.6451:0.2479:0.107:0.0|0.6451:0.2479:0.107:0.0	.|.	666;369;587;1012;1021|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	V|W	1021;1012;1021;1012;369;82|667	ENSP00000353030:A1021V;ENSP00000398822:A1012V;ENSP00000361491:A1021V;ENSP00000361490:A1012V;ENSP00000387885:A369V;ENSP00000361484:A82V|.	ENSP00000353030:A1021V|.	A|R	+|+	2|1	0|2	PTPRF|PTPRF	43843185|43843185	0.540000|0.540000	0.26410|0.26410	0.896000|0.896000	0.35187|0.35187	0.967000|0.967000	0.64934|0.64934	1.325000|1.325000	0.33724|0.33724	0.546000|0.546000	0.28920|0.28920	0.491000|0.491000	0.48974|0.48974	GCG|CGG		0.562	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44070598	C	T	44070598	3	4	392	1	0	0	0	0	1	0	0	0	12804	768	27	1	3120	1	PTPRF	1	44070598	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	6779395	44070598	205180023	2	21338											
AMPD2	271	genome.wustl.edu	37	1	110168957	110168957	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr1:110168957G>T	ENST00000256578.3	+	5	961	c.601G>T	c.(601-603)Ggt>Tgt	p.G201C	AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.G120C|AMPD2_ENST00000358729.4_Missense_Mutation_p.G126C|AMPD2_ENST00000528667.1_Missense_Mutation_p.G201C|AMPD2_ENST00000393688.3_Missense_Mutation_p.G82C|AMPD2_ENST00000528454.1_Missense_Mutation_p.G83C	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	201					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAAGGAACAGGGTGAGGGGCA	0.632																																																0			1											38	38	38					1																	110168957		2203	4300	6503	109970480	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.601G>T	1.37:g.110168957G>T	ENSP00000256578:p.Gly201Cys		109970480	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.42|13.42	2.232999|2.232999	0.39498|0.39498	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000531203;ENST00000256578;ENST00000358729;ENST00000527846;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;T;T;D|.	0.85629|.	-1.98;-1.99;-1.99;1.17;1.17;-2.01|.	5.07|5.07	-2.4|-2.4	0.06583|0.06583	.|.	1.360640|1.360640	0.04367|0.04367	N|N	0.358520|0.358520	T|T	0.05227|0.05227	0.0139|0.0139	N|N	0.08118|0.08118	0|0	0.19575|0.19575	N|N	0.999969|0.999969	D;P;P;P|.	0.57257|.	0.979;0.948;0.913;0.948|.	P;B;B;P|.	0.50192|.	0.634;0.443;0.339;0.613|.	T|T	0.20505|0.20505	-1.0273|-1.0273	10|6	0.56958|.	D|.	0.05|.	-0.1671|-0.1671	5.9461|5.9461	0.19219|0.19219	0.4442:0.2388:0.317:0.0|0.4442:0.2388:0.317:0.0	.|.	126;82;201;120|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	C|V	120;201;83;201;126;168;83;82|171	ENSP00000345498:G120C;ENSP00000436541:G201C;ENSP00000256578:G201C;ENSP00000351573:G126C;ENSP00000437164:G83C;ENSP00000377292:G82C|.	ENSP00000256578:G201C|.	G|G	+|+	1|2	0|0	AMPD2|AMPD2	109970480|109970480	0.001000|0.001000	0.12720|0.12720	0.201000|0.201000	0.23476|0.23476	0.729000|0.729000	0.41735|0.41735	-0.019000|-0.019000	0.12546|0.12546	-0.312000|-0.312000	0.08741|0.08741	0.462000|0.462000	0.41574|0.41574	GGT|GGG		0.632	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			T	110168957	G	T	110168957	3	4	392	1	0	0	0	0	1	0	0	0	586	1232	43	3	660	3	AMPD2	1	110168957	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	66098359	110168957	139081664	3	21339											
ATF6	22926	genome.wustl.edu	37	1	161789467	161789467	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr1:161789467A>T	ENST00000367942.3	+	8	1021	c.954A>T	c.(952-954)gaA>gaT	p.E318D		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	318	Basic motif.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AAAATCGAGAATCCGCTTGTC	0.378																																																0			1											66	66	66					1																	161789467		2203	4300	6503	160056091	SO:0001583	missense	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.954A>T	1.37:g.161789467A>T	ENSP00000356919:p.Glu318Asp		160056091	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027551	0.75390	.	.	ENSG00000118217	ENST00000367942	T	0.60548	0.18	5.19	2.28	0.28536	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.050709	0.85682	D	0.000000	T	0.64549	0.2608	M	0.85373	2.75	0.58432	D	0.999993	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.66324	-0.5952	9	0.59425	D	0.04	-10.0701	6.9984	0.24795	0.3793:0.0:0.6207:0.0	.	318;319	P18850;Q59H30	ATF6A_HUMAN;.	D	318	ENSP00000356919:E318D	ENSP00000356919:E318D	E	+	3	2	ATF6	160056091	1.000000	0.71417	0.963000	0.40424	0.985000	0.73830	3.250000	0.51445	0.191000	0.20236	-0.248000	0.11899	GAA		0.378	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		T	161789467	A	T	161789467	3	4	392	1	0	0	0	0	1	0	0	0	1084	98	4	5	984	5	ATF6	1	161789467	Missense_Mutation	SNP	A	TCGA-36-2543-01A-01D-1526-09	51620510	161789467	87461154	4	21340											
QSOX1	5768	genome.wustl.edu	37	1	180163347	180163347	+	Splice_Site	SNP	G	G	C			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr1:180163347G>C	ENST00000367602.3	+	11	1362		c.e11-1		QSOX1_ENST00000367600.5_Splice_Site			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1						cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCCCTGTAGCCAAGGCCAA	0.677																																																0			1											34	28	30					1																	180163347		2203	4299	6502	178429970	SO:0001630	splice_region_variant	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1289-1G>C	1.37:g.180163347G>C			178429970	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Splice_Site	SNP	ENST00000367602.3	37	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968594	0.34754	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0826	0.42399	0.1039:0.0:0.8961:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	QSOX1	178429970	1.000000	0.71417	0.879000	0.34478	0.583000	0.36354	5.955000	0.70306	2.117000	0.64856	0.462000	0.41574	.		0.677	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826	Intron	C	180163347	G	C	180163347	5	2	392	1	0	0	0	0	0	0	1	0	12886	985	34	3	1330	3	QSOX1	1	180163347	Splice_Site	SNP	G	TCGA-36-2543-01A-01D-1526-09	18373880	180163347	69087274	5	21341											
FAM5C	339479	genome.wustl.edu	37	1	190067657	190067657	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr1:190067657G>A	ENST00000367462.3	-	8	2023	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	BRINP3_ENST00000534846.1_Missense_Mutation_p.R496W	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	598					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AACTTAGTCCGCTCCCAGTCT	0.473																																																0			1											189	194	192					1																	190067657		2203	4300	6503	188334280	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1792C>T	1.37:g.190067657G>A	ENSP00000356432:p.Arg598Trp		188334280	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653328	0.47362	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21543	2.25;2.0	5.61	3.59	0.41128	.	0.134805	0.51477	D	0.000094	T	0.31389	0.0795	L	0.55481	1.735	0.36261	D	0.854522	D;D	0.67145	0.996;0.993	P;P	0.53549	0.729;0.539	T	0.45160	-0.9280	10	0.87932	D	0	.	12.1978	0.54307	0.0:0.0:0.691:0.309	.	496;598	B7Z260;Q76B58	.;FAM5C_HUMAN	W	598;496	ENSP00000356432:R598W;ENSP00000438022:R496W	ENSP00000356432:R598W	R	-	1	2	FAM5C	188334280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.855000	0.39378	1.336000	0.45506	0.585000	0.79938	CGG		0.473	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		A	190067657	G	A	190067657	3	1	392	1	0	0	0	0	1	0	0	0	5594	1086	38	1	512	1	FAM5C	1	190067657	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	9904310	190067657	59182964	6	21342											
ARID4B	51742	genome.wustl.edu	37	1	235397796	235397796	+	Silent	SNP	A	A	C			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr1:235397796A>C	ENST00000264183.3	-	9	1094	c.597T>G	c.(595-597)ccT>ccG	p.P199P	ARID4B_ENST00000366603.2_Silent_p.P199P|ARID4B_ENST00000349213.3_Silent_p.P199P	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	199					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CACTACAATCAGGACAAACCA	0.308																																																0			1											38	37	37					1																	235397796		2202	4295	6497	233464419	SO:0001819	synonymous_variant	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.597T>G	1.37:g.235397796A>C			233464419	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	CCDS31061.1																																																																																				0.308	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		C	235397796	A	C	235397796	2	2	392	1	0	0	0	0	0	0	0	1	920	175	7	5		5	ARID4B	1	235397796	Silent	SNP	A	TCGA-36-2543-01A-01D-1526-09	45330139	235397796	13852825	7	21343											
HEATR1	55127	genome.wustl.edu	37	1	236751310	236751310	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr1:236751310C>G	ENST00000366582.3	-	13	1678	c.1564G>C	c.(1564-1566)Gtt>Ctt	p.V522L	HEATR1_ENST00000366581.2_Missense_Mutation_p.V522L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	522					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CGGGCTAAAACAGCTTCTTTT	0.338																																																0			1											117	110	112					1																	236751310		2203	4300	6503	234817933	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1564G>C	1.37:g.236751310C>G	ENSP00000355541:p.Val522Leu		234817933	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307272	0.23821	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.52526	0.66;0.79	5.8	-1.82	0.07857	Armadillo-like helical (1);Armadillo-type fold (1);	0.626741	0.16146	N	0.227477	T	0.28863	0.0716	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.17137	-1.0379	10	0.13108	T	0.6	.	14.5577	0.68113	0.0:0.0951:0.0:0.9049	.	522	Q9H583	HEAT1_HUMAN	L	522	ENSP00000355541:V522L;ENSP00000355540:V522L	ENSP00000355540:V522L	V	-	1	0	HEATR1	234817933	0.460000	0.25776	0.977000	0.42913	0.989000	0.77384	-0.662000	0.05305	-0.668000	0.05296	0.650000	0.86243	GTT		0.338	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		G	236751310	C	G	236751310	3	3	392	1	0	0	0	0	1	0	0	0	7027	478	17	3	5002	3	HEATR1	1	236751310	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	1353514	236751310	12499311	8	21344											
C1orf101	257044	genome.wustl.edu	37	1	244755027	244755027	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr1:244755027T>C	ENST00000366534.4	+	15	2237	c.2183T>C	c.(2182-2184)aTt>aCt	p.I728T	C1orf101_ENST00000366531.3_Missense_Mutation_p.I577T|AC099757.1_ENST00000458882.1_RNA|C1orf101_ENST00000366533.4_Missense_Mutation_p.I728T|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	728						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCATACGTGATTGAAAAGTAA	0.254																																																0			1											61	63	62					1																	244755027		2200	4288	6488	242821650	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2183T>C	1.37:g.244755027T>C	ENSP00000355492:p.Ile728Thr		242821650	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003235	0.54254	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	4.51	4.51	0.55191	.	0.256618	0.26844	N	0.022205	T	0.59824	0.2222	M	0.65975	2.015	0.28834	N	0.896985	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.975;0.988;0.998	T	0.57213	-0.7850	10	0.87932	D	0	.	10.3777	0.44092	0.0:0.0:0.0:1.0	.	648;728;728;577	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	T	728;728;728;648;577	ENSP00000355492:I728T;ENSP00000355491:I728T;ENSP00000395796:I648T;ENSP00000355489:I577T	ENSP00000355489:I577T	I	+	2	0	C1orf101	242821650	1.000000	0.71417	0.985000	0.45067	0.830000	0.47004	3.177000	0.50871	2.011000	0.59026	0.482000	0.46254	ATT		0.254	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		C	244755027	T	C	244755027	3	2	392	1	0	0	0	0	1	0	0	0	1976	1493	52	4	2241	4	C1orf101	1	244755027	Missense_Mutation	SNP	T	TCGA-36-2543-01A-01D-1526-09	8003717	244755027	4495594	9	21345											
OTOF	9381	genome.wustl.edu	37	2	26700092	26700092	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr2:26700092T>A	ENST00000272371.2	-	21	2597	c.2471A>T	c.(2470-2472)aAg>aTg	p.K824M	OTOF_ENST00000403946.3_Missense_Mutation_p.K824M|OTOF_ENST00000338581.6_Missense_Mutation_p.K77M|OTOF_ENST00000402415.3_Missense_Mutation_p.K134M|OTOF_ENST00000339598.3_Missense_Mutation_p.K77M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	824					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCTCAGCTTGTCCCGCAC	0.652																																					GBM(102;732 1451 20652 24062 31372)											0			2											27	30	29					2																	26700092		2184	4288	6472	26553596	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2471A>T	2.37:g.26700092T>A	ENSP00000272371:p.Lys824Met		26553596	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958798	0.53400	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.81078	-1.23;-1.23;-1.18;-1.45;-1.45	4.81	4.81	0.61882	.	0.046482	0.85682	D	0.000000	T	0.81983	0.4938	L	0.43923	1.385	0.49687	D	0.999815	P;B;D;B	0.69078	0.8;0.059;0.997;0.057	B;B;P;B	0.58970	0.319;0.098;0.849;0.062	T	0.80942	-0.1157	10	0.38643	T	0.18	-35.012	10.8132	0.46559	0.0:0.0:0.1585:0.8415	.	824;77;134;77	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	M	77;77;134;824;824	ENSP00000345137:K77M;ENSP00000344521:K77M;ENSP00000383906:K134M;ENSP00000272371:K824M;ENSP00000385255:K824M	ENSP00000272371:K824M	K	-	2	0	OTOF	26553596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.846000	0.62860	1.794000	0.52575	0.418000	0.28097	AAG		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26700092	T	A	26700092	3	1	392	1	0	0	0	0	1	0	0	0	11303	1609	56	5	3811	5	OTOF	2	26700092	Missense_Mutation	SNP	T	TCGA-36-2543-01A-01D-1526-09		26700092	216499281	10	21346											
MDH1	4190	genome.wustl.edu	37	2	63824541	63824541	+	Missense_Mutation	SNP	G	G	A	rs533261577	byFrequency	TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr2:63824541G>A	ENST00000233114.8	+	4	643	c.208G>A	c.(208-210)Gca>Aca	p.A70T	MDH1_ENST00000409908.1_Intron|MDH1_ENST00000539945.1_Missense_Mutation_p.A88T|MDH1_ENST00000409476.1_Intron|MDH1_ENST00000544381.1_5'UTR|MDH1_ENST00000394423.1_Missense_Mutation_p.A70T	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	70					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						AGATGTCATCGCAACAGATAA	0.398													G|||	8	0.00159744	0	0	5008	,	,		18419	0		0	False		,,,				2504	0.0082															0			2											63	62	62					2																	63824541		2203	4300	6503	63678045	SO:0001583	missense	4190				CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.208G>A	2.37:g.63824541G>A	ENSP00000233114:p.Ala70Thr		63678045	B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	ENST00000233114.8	37	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963867	0.53507	.	.	ENSG00000014641	ENST00000233114;ENST00000436321;ENST00000454035;ENST00000432309;ENST00000539945;ENST00000394423	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.47	3.6	0.41247	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.249238	0.47455	N	0.000228	D	0.84334	0.5449	L	0.58810	1.83	0.80722	D	1	P;P	0.45715	0.865;0.852	B;B	0.44133	0.314;0.442	T	0.81008	-0.1127	10	0.41790	T	0.15	-29.6508	8.6001	0.33740	0.1518:0.132:0.7162:0.0	.	88;70	F5H098;P40925	.;MDHC_HUMAN	T	70;25;71;88;88;70	ENSP00000233114:A70T;ENSP00000394504:A25T;ENSP00000409027:A71T;ENSP00000410073:A88T;ENSP00000438144:A88T;ENSP00000377945:A70T	ENSP00000233114:A70T	A	+	1	0	MDH1	63678045	1.000000	0.71417	0.792000	0.32020	0.985000	0.73830	2.404000	0.44539	0.718000	0.32166	0.655000	0.94253	GCA		0.398	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1			A	63824541	G	A	63824541	3	1	392	1	0	0	0	0	1	0	0	0	9408	1087	38	1	222	1	MDH1	2	63824541	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	37124449	63824541	179374832	11	21347											
DYSF	8291	genome.wustl.edu	37	2	71801345	71801345	+	Silent	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr2:71801345G>A	ENST00000258104.3	+	30	3469	c.3192G>A	c.(3190-3192)gcG>gcA	p.A1064A	DYSF_ENST00000409651.1_Silent_p.A1096A|DYSF_ENST00000409366.1_Silent_p.A1065A|DYSF_ENST00000410041.1_Silent_p.A1082A|DYSF_ENST00000394120.2_Silent_p.A1065A|DYSF_ENST00000409582.3_Silent_p.A1081A|DYSF_ENST00000409762.1_Silent_p.A1081A|DYSF_ENST00000413539.2_Silent_p.A1095A|DYSF_ENST00000409744.1_Silent_p.A1051A|DYSF_ENST00000429174.2_Silent_p.A1064A|DYSF_ENST00000410020.3_Silent_p.A1082A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1064	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGCGGAGGCGGAGGGCGAGG	0.657																																																0			2											47	57	54					2																	71801345		2201	4294	6495	71654853	SO:0001819	synonymous_variant	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3192G>A	2.37:g.71801345G>A			71654853	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																				0.657	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		A	71801345	G	A	71801345	2	1	392	1	0	0	0	0	0	0	0	1	4859	1103	39	1		1	DYSF	2	71801345	Silent	SNP	G	TCGA-36-2543-01A-01D-1526-09	7976804	71801345	171398028	12	21348											
IL1RL1	9173	genome.wustl.edu	37	2	102968130	102968130	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr2:102968130G>A	ENST00000233954.1	+	11	1691	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	474	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CATCCAGAACGACGCCAAGGT	0.542																																																0			2											87	74	78					2																	102968130		2203	4300	6503	102334562	SO:0001583	missense	9173			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1420G>A	2.37:g.102968130G>A	ENSP00000233954:p.Asp474Asn		102334562	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	G	7.513	0.655165	0.14580	.	.	ENSG00000115602	ENST00000233954	T	0.02323	4.34	4.73	2.82	0.32997	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.356168	0.28671	N	0.014537	T	0.02156	0.0067	L	0.31294	0.92	0.80722	D	1	P	0.39782	0.688	B	0.36092	0.217	T	0.64141	-0.6477	10	0.20519	T	0.43	.	7.1413	0.25558	0.2242:0.0:0.7758:0.0	.	474	Q01638	ILRL1_HUMAN	N	474	ENSP00000233954:D474N	ENSP00000233954:D474N	D	+	1	0	IL1RL1	102334562	0.953000	0.32496	0.984000	0.44739	0.062000	0.15995	1.517000	0.35867	0.506000	0.28125	0.455000	0.32223	GAC		0.542	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		A	102968130	G	A	102968130	3	1	392	1	0	0	0	0	1	0	0	0	7663	1058	37	1	1475	1	IL1RL1	2	102968130	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	31166785	102968130	140231243	13	21349											
USP4	7375	genome.wustl.edu	37	3	49377436	49377436	+	Missense_Mutation	SNP	G	G	A	rs143533593		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr3:49377436G>A	ENST00000265560.4	-	1	68	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	USP4_ENST00000415188.1_Missense_Mutation_p.R8C|USP4_ENST00000351842.4_Missense_Mutation_p.R8C|USP4_ENST00000416417.1_Missense_Mutation_p.R8C	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	8					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R8C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GGTCGCTCACGGCAGCCTCCA	0.706																																																1	Substitution - Missense(1)	prostate(1)	3											37	40	39					3																	49377436		2203	4300	6503	49352440	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.22C>T	3.37:g.49377436G>A	ENSP00000265560:p.Arg8Cys		49352440	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173200	0.21704	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.31247	2.01;2.14;1.5	4.83	-8.97	0.00758	.	0.732656	0.11760	U	0.532125	T	0.09247	0.0228	N	0.08118	0	0.09310	N	0.999997	P;B	0.40970	0.734;0.0	B;B	0.33196	0.159;0.0	T	0.25572	-1.0128	10	0.52906	T	0.07	2.0E-4	6.0424	0.19742	0.2657:0.513:0.1365:0.0849	.	8;8	Q13107-2;Q13107	.;UBP4_HUMAN	C	8	ENSP00000341028:R8C;ENSP00000265560:R8C;ENSP00000400623:R8C	ENSP00000265560:R8C	R	-	1	0	USP4	49352440	0.996000	0.38824	0.000000	0.03702	0.021000	0.10359	0.926000	0.28804	-1.777000	0.01283	-1.687000	0.00730	CGT		0.706	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		A	49377436	G	A	49377436	3	1	392	1	0	0	0	0	1	0	0	0	17071	1116	39	1	2957	1	USP4	3	49377436	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09		49377436	148644994	14	21350											
RBM6	10180	genome.wustl.edu	37	3	50005100	50005100	+	Missense_Mutation	SNP	C	C	T	rs374876120		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr3:50005100C>T	ENST00000266022.4	+	3	501	c.242C>T	c.(241-243)cCg>cTg	p.P81L	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	81					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGACGGACCGCATGGTGAC	0.512																																																0			3						C	,LEU/PRO	0,4406		0,0,2203	92	98	96		,242	2.3	0.2	3		96	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	RBM6	NM_001167582.1,NM_005777.2	,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,81/1124	50005100	1,13005	2203	4300	6503	49980104	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.242C>T	3.37:g.50005100C>T	ENSP00000266022:p.Pro81Leu		49980104	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	3.192	-0.165605	0.06461	0.0	1.16E-4	ENSG00000004534	ENST00000266022;ENST00000416583	T	0.30448	1.53	6.04	2.27	0.28462	.	0.293824	0.33180	N	0.005191	T	0.21801	0.0525	L	0.43152	1.355	0.58432	D	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.06991	-1.0796	9	.	.	.	0.1344	7.404	0.26981	0.1244:0.6881:0.0:0.1875	.	81	P78332	RBM6_HUMAN	L	81	ENSP00000266022:P81L	.	P	+	2	0	RBM6	49980104	0.236000	0.23804	0.215000	0.23724	0.980000	0.70556	0.577000	0.23758	0.135000	0.18707	0.561000	0.74099	CCG		0.512	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50005100	C	T	50005100	3	4	392	1	0	0	0	0	1	0	0	0	13147	652	23	1	248	1	RBM6	3	50005100	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	627664	50005100	148017330	15	21351											
IQCF2	389123	genome.wustl.edu	37	3	51895690	51895690	+	Missense_Mutation	SNP	T	T	C	rs537390720	byFrequency	TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr3:51895690T>C	ENST00000333127.3	+	1	37	c.8T>C	c.(7-9)gTt>gCt	p.V3A	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	3										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCATGAGGGTTCGATTTTGT	0.478																																																0			3											124	109	114					3																	51895690		2203	4300	6503	51870730	SO:0001583	missense	389123			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.8T>C	3.37:g.51895690T>C	ENSP00000329904:p.Val3Ala		51870730		Missense_Mutation	SNP	ENST00000333127.3	37	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	t	14.49	2.550554	0.45383	.	.	ENSG00000184345	ENST00000333127	T	0.33216	1.42	4.37	3.21	0.36854	.	0.879461	0.09565	N	0.785001	T	0.21307	0.0513	N	0.24115	0.695	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.23190	-1.0195	10	0.72032	D	0.01	2.0E-4	6.6783	0.23106	0.0:0.1058:0.0:0.8942	.	3	Q8IXL9	IQCF2_HUMAN	A	3	ENSP00000329904:V3A	ENSP00000329904:V3A	V	+	2	0	IQCF2	51870730	0.017000	0.18338	0.002000	0.10522	0.447000	0.32167	2.916000	0.48813	1.019000	0.39547	0.454000	0.30748	GTT		0.478	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		C	51895690	T	C	51895690	3	2	392	1	0	0	0	0	1	0	0	0	7808	1725	60	4	10	4	IQCF2	3	51895690	Missense_Mutation	SNP	T	TCGA-36-2543-01A-01D-1526-09	1890590	51895690	146126740	16	21352											
SLC9A10	285335	genome.wustl.edu	37	3	111927095	111927095	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr3:111927095A>T	ENST00000305815.5	-	16	2168	c.1916T>A	c.(1915-1917)aTc>aAc	p.I639N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.I591N	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	639	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GCTGTGGTAGATTACATTTAA	0.299																																																0			3											111	132	125					3																	111927095		2203	4297	6500	113409785	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1916T>A	3.37:g.111927095A>T	ENSP00000306627:p.Ile639Asn		113409785	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508452	0.44660	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.97256	-4.31;-4.31	5.69	3.33	0.38152	.	0.434052	0.22235	N	0.062773	D	0.96374	0.8817	L	0.41492	1.28	0.09310	N	0.999994	D;D	0.62365	0.991;0.976	P;P	0.62382	0.901;0.564	D	0.90974	0.4822	10	0.87932	D	0	-11.2644	7.4569	0.27272	0.8291:0.0:0.1709:0.0	.	591;639	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	N	639;591	ENSP00000306627:I639N;ENSP00000420688:I591N	ENSP00000306627:I639N	I	-	2	0	SLC9A10	113409785	0.213000	0.23551	0.049000	0.19019	0.003000	0.03518	1.156000	0.31712	0.524000	0.28502	-0.315000	0.08773	ATC		0.299	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		T	111927095	A	T	111927095	3	4	392	1	0	0	0	0	1	0	0	0	14713	333	12	5	1673	5	SLC9A10	3	111927095	Missense_Mutation	SNP	A	TCGA-36-2543-01A-01D-1526-09	60031405	111927095	86095335	17	21353											
CORIN	10699	genome.wustl.edu	37	4	47605609	47605609	+	Missense_Mutation	SNP	G	G	A	rs571162211		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr4:47605609G>A	ENST00000273857.4	-	20	2616	c.2617C>T	c.(2617-2619)Cgc>Tgc	p.R873C	CORIN_ENST00000502252.1_Missense_Mutation_p.R806C|CORIN_ENST00000508498.1_Missense_Mutation_p.R734C|CORIN_ENST00000505909.1_Missense_Mutation_p.R836C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	873	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTCACAAAGCGTGTCTGCATG	0.463																																																0			4											154	130	138					4																	47605609		2203	4300	6503	47300366	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2617C>T	4.37:g.47605609G>A	ENSP00000273857:p.Arg873Cys		47300366	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138906	0.37728	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	6.08	4.35	0.52113	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.452531	0.24866	N	0.034969	T	0.68329	0.2989	L	0.55481	1.735	0.58432	D	0.999994	D;D	0.89917	1.0;0.998	D;P	0.70716	0.97;0.873	T	0.65569	-0.6136	10	0.39692	T	0.17	.	11.2827	0.49203	0.0652:0.0:0.8066:0.1282	.	806;873	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	C	873;734;806;836	ENSP00000273857:R873C;ENSP00000425597:R734C;ENSP00000424212:R806C;ENSP00000425401:R836C	ENSP00000273857:R873C	R	-	1	0	CORIN	47300366	0.956000	0.32656	0.011000	0.14972	0.072000	0.16883	3.507000	0.53371	0.882000	0.36016	0.655000	0.94253	CGC		0.463	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			A	47605609	G	A	47605609	3	1	392	1	0	0	0	0	1	0	0	0	3752	1145	40	1	523	1	CORIN	4	47605609	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09		47605609	143548667	18	21354											
GYPA	2994	genome.wustl.edu	37	4	145038082	145038082	+	Intron	SNP	G	G	C	rs140973108		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr4:145038082G>C	ENST00000283126.7	-	1	93				GYPA_ENST00000504786.1_Silent_p.L62L|GYPA_ENST00000503627.1_Silent_p.L49L|GYPA_ENST00000512789.1_Silent_p.L29L|GYPA_ENST00000360771.4_Silent_p.L94L|GYPA_ENST00000535709.1_Silent_p.L68L|GYPA_ENST00000324022.10_Silent_p.L61L|GYPA_ENST00000512064.1_Silent_p.L81L|RP11-673E1.4_ENST00000506982.1_RNA			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L94L(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CAAAAATAATGAGTGTTATCT	0.348																																																1	Substitution - coding silent(1)	lung(1)	4											111	115	113					4																	145038082		2203	4300	6503	145257532	SO:0001627	intron_variant	2993				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23669C>G	4.37:g.145038082G>C			145257532	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Silent	SNP	ENST00000283126.7	37																																																																																					0.348	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		C	145038082	G	C	145038082	1	2	392	0	1	0	0	0	0	0	0	0	6908	1277	45	3		3	GYPA	4	145038082	Intron	SNP	G	TCGA-36-2543-01A-01D-1526-09	97432473	145038082	46116194	19	21355											
GCNT4	51301	genome.wustl.edu	37	5	74325582	74325582	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr5:74325582T>C	ENST00000322348.4	-	1	1142	c.281A>G	c.(280-282)gAc>gGc	p.D94G		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	94					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GTCAATGATGTCCCTTCTTCT	0.403																																																0			5											174	163	167					5																	74325582		2203	4300	6503	74361338	SO:0001583	missense	51301			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.281A>G	5.37:g.74325582T>C	ENSP00000317027:p.Asp94Gly		74361338		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	9.297	1.052098	0.19827	.	.	ENSG00000176928	ENST00000322348	T	0.42513	0.97	6.17	2.36	0.29203	.	1.859620	0.02066	N	0.051132	T	0.37128	0.0992	L	0.38175	1.15	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.20672	-1.0268	10	0.31617	T	0.26	-9.0173	8.9327	0.35680	0.0:0.0629:0.2517:0.6854	.	94	Q9P109	GCNT4_HUMAN	G	94	ENSP00000317027:D94G	ENSP00000317027:D94G	D	-	2	0	GCNT4	74361338	0.012000	0.17670	0.091000	0.20842	0.980000	0.70556	1.239000	0.32719	0.171000	0.19730	0.533000	0.62120	GAC		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		C	74325582	T	C	74325582	3	2	392	1	0	0	0	0	1	0	0	0	6303	1667	58	4	1084	4	GCNT4	5	74325582	Missense_Mutation	SNP	T	TCGA-36-2543-01A-01D-1526-09		74325582	106589678	20	21356											
CCDC112	153733	genome.wustl.edu	37	5	114607081	114607081	+	Silent	SNP	A	A	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr5:114607081A>G	ENST00000512261.1	-	8	1328	c.912T>C	c.(910-912)caT>caC	p.H304H	CCDC112_ENST00000379611.5_Silent_p.H387H|CCDC112_ENST00000395557.4_Silent_p.H304H|CCDC112_ENST00000506442.1_Silent_p.H304H			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	304										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		GTTCTTTCTGATGTTTTTTCT	0.353																																																0			5											147	153	151					5																	114607081		2202	4300	6502	114634980	SO:0001819	synonymous_variant	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.912T>C	5.37:g.114607081A>G			114634980	Q6A334	Silent	SNP	ENST00000512261.1	37	CCDS4117.1																																																																																				0.353	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		G	114607081	A	G	114607081	2	3	392	1	0	0	0	0	0	0	0	1	2749	330	12	4		4	CCDC112	5	114607081	Silent	SNP	A	TCGA-36-2543-01A-01D-1526-09	40281499	114607081	66308179	21	21357											
ADAMTS19	171019	genome.wustl.edu	37	5	129072808	129072808	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr5:129072808G>A	ENST00000274487.4	+	23	3666	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1174	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGTACTGCCGAGTGATACGT	0.478																																																0			5											136	124	128					5																	129072808		2203	4300	6503	129100707	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3521G>A	5.37:g.129072808G>A	ENSP00000274487:p.Arg1174Gln		129100707		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207390	0.58343	.	.	ENSG00000145808	ENST00000274487	T	0.42131	0.98	4.12	4.12	0.48240	PLAC (2);	0.000000	0.52532	D	0.000072	T	0.39572	0.1083	N	0.14661	0.345	0.34972	D	0.753226	D	0.71674	0.998	P	0.60609	0.877	T	0.43426	-0.9392	9	.	.	.	.	11.2192	0.48844	0.0858:0.0:0.9142:0.0	.	1174	Q8TE59	ATS19_HUMAN	Q	1174	ENSP00000274487:R1174Q	.	R	+	2	0	ADAMTS19	129100707	0.990000	0.36364	1.000000	0.80357	0.574000	0.36063	3.173000	0.50839	2.599000	0.87857	0.650000	0.86243	CGA		0.478	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		A	129072808	G	A	129072808	3	1	392	1	0	0	0	0	1	0	0	0	264	1058	37	1	3611	1	ADAMTS19	5	129072808	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	14465727	129072808	51842452	22	21358											
GCNT2	2651	genome.wustl.edu	37	6	10586456	10586456	+	Intron	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr6:10586456G>A	ENST00000379597.3	+	2	1481				GCNT2_ENST00000265012.4_Silent_p.L78L|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGGATTACCTGACCCAGAATC	0.448																																																0			6											131	128	129					6																	10586456		2203	4300	6503	10694442	SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-35128G>A	6.37:g.10586456G>A			10694442		Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																				0.448	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		A	10586456	G	A	10586456	1	1	392	0	1	0	0	0	0	0	0	0	6301	1277	45	2		2	GCNT2	6	10586456	Intron	SNP	G	TCGA-36-2543-01A-01D-1526-09		10586456	160528611	23	21359											
TRIM39	56658	genome.wustl.edu	37	6	30297548	30297548	+	Splice_Site	SNP	G	G	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr6:30297548G>T	ENST00000396547.1	+	2	613		c.e2+1		HCG18_ENST00000413358.2_RNA|TRIM39_ENST00000396551.3_Splice_Site|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376659.5_Splice_Site|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000376656.4_Splice_Site|TRIM39_ENST00000540416.1_Splice_Site|TRIM39-RPP21_ENST00000513556.1_Splice_Site|TRIM39_ENST00000396548.1_Splice_Site			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39						apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GGAGTACAAGGTGGGGAAGCA	0.522																																																0			6											50	53	52					6																	30297548		1508	2707	4215	30405527	SO:0001630	splice_region_variant	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.453+1G>T	6.37:g.30297548G>T			30405527	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Splice_Site	SNP	ENST00000396547.1	37	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419236	0.62622	.	.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000420746;ENST00000513556	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7114	0.77631	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM39-RPP21;TRIM39	30405527	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	8.475000	0.90417	2.646000	0.89796	0.555000	0.69702	.		0.522	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016	Intron	T	30297548	G	T	30297548	5	4	392	1	0	0	0	0	0	0	1	0	16513	1275	44	3	456	3	TRIM39	6	30297548	Splice_Site	SNP	G	TCGA-36-2543-01A-01D-1526-09	19711092	30297548	140817519	24	21360											
LTA	4049	genome.wustl.edu	37	6	31541152	31541152	+	Silent	SNP	G	G	C	rs373019200		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr6:31541152G>C	ENST00000454783.1	+	4	558	c.300G>C	c.(298-300)ctG>ctC	p.L100L	LTA_ENST00000418386.2_Silent_p.L100L|TNF_ENST00000449264.2_5'Flank	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	100					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	ATTCTCTCCTGGTCCCCACCA	0.572																																																0			6											118	102	107					6																	31541152		2203	4300	6503	31649131	SO:0001819	synonymous_variant	4049			X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"Tumor necrosis factor (ligand) superfamily"	6709	protein-coding gene	gene with protein product	"TNF superfamily member 1"	153440	"lymphotoxin alpha (TNF superfamily, member 1)"	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.300G>C	6.37:g.31541152G>C			31649131	Q8N4C3|Q9UKS8	Silent	SNP	ENST00000454783.1	37	CCDS4701.1																																																																																				0.572	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			C	31541152	G	C	31541152	2	2	392	1	0	0	0	0	0	0	0	1	9068	1335	47	3		3	LTA	6	31541152	Silent	SNP	G	TCGA-36-2543-01A-01D-1526-09	1243604	31541152	139573915	25	21361											
MAPK14	1432	genome.wustl.edu	37	6	36075286	36075286	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr6:36075286C>T	ENST00000229794.4	+	11	1284	c.896C>T	c.(895-897)gCg>gTg	p.A299V	MAPK14_ENST00000468133.1_Missense_Mutation_p.A222V|MAPK14_ENST00000310795.4_Missense_Mutation_p.R273W|MAPK14_ENST00000229795.3_Missense_Mutation_p.A299V	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AGAATTACAGCGGCCCAAGCC	0.463																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)											0			6											170	160	164					6																	36075286		2203	4300	6503	36183264	SO:0001583	missense	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"Mitogen-activated protein kinase cascade / Kinases"	6876	protein-coding gene	gene with protein product	"p38 MAP kinase"	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.896C>T	6.37:g.36075286C>T	ENSP00000229794:p.Ala299Val		36183264	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	CCDS4816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	5.978250|5.978250	0.97168|0.97168	.|.	.|.	ENSG00000112062|ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133|ENST00000310795	T;T;T|T	0.69040|0.14266	-0.37;-0.37;-0.37|2.52	5.96|5.96	5.96|5.96	0.96718|0.96718	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|T	0.11024|0.11024	0.0269|0.0269	.|.	.|.	.|.	0.50632|0.50632	D|D	0.999888|0.999888	D;D|P	0.89917|0.47350	1.0;0.996|0.894	D;P|B	0.97110|0.39840	1.0;0.606|0.311	T|T	0.02404|0.02404	-1.1164|-1.1164	9|8	0.87932|0.87932	D|D	0|0	-8.2225|-8.2225	20.4192|20.4192	0.99033|0.99033	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	299;299|273	Q16539;Q16539-2|Q16539-4	MK14_HUMAN;.|.	V|W	299;299;222|273	ENSP00000229795:A299V;ENSP00000229794:A299V;ENSP00000419837:A222V|ENSP00000308669:R273W	ENSP00000229794:A299V|ENSP00000308669:R273W	A|R	+|+	2|1	0|2	MAPK14|MAPK14	36183264|36183264	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.463	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		T	36075286	C	T	36075286	3	4	392	1	0	0	0	0	1	0	0	0	9276	768	27	1	1075	1	MAPK14	6	36075286	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	4534134	36075286	135039781	26	21362											
GPR6	2830	genome.wustl.edu	37	6	110300600	110300600	+	Silent	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr6:110300600G>A	ENST00000275169.3	+	1	303	c.285G>A	c.(283-285)gcG>gcA	p.A95A	GPR6_ENST00000414000.2_Silent_p.A110A	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	95					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGGTGGTGGCGCTCATCGCGT	0.672																																																0			6											77	72	74					6																	110300600		2203	4300	6503	110407293	SO:0001819	synonymous_variant	2830				CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.285G>A	6.37:g.110300600G>A			110407293	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	ENST00000275169.3	37	CCDS5079.1																																																																																				0.672	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			A	110300600	G	A	110300600	2	1	392	1	0	0	0	0	0	0	0	1	6701	1074	38	1		1	GPR6	6	110300600	Silent	SNP	G	TCGA-36-2543-01A-01D-1526-09	74225314	110300600	60814467	27	21363											
PAPOLB	56903	genome.wustl.edu	37	7	4900691	4900691	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr7:4900691C>T	ENST00000404991.1	-	1	934	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	250					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ACTAGCATGGCCCAGGAAACA	0.438																																																0			7											109	112	111					7																	4900691		2203	4300	6503	4867217	SO:0001583	missense	56903			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.748G>A	7.37:g.4900691C>T	ENSP00000384700:p.Ala250Thr		4867217	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.314291	0.81358	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	D	0.86732	0.6003	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.90575	0.4525	8	0.87932	D	0	.	14.8979	0.70656	0.0:1.0:0.0:0.0	.	251	A4D1Z6	.	T	250	.	ENSP00000384700:A250T	A	-	1	0	PAPOLB	4867217	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.664000	0.68045	2.641000	0.89580	0.591000	0.81541	GCC		0.438	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		T	4900691	C	T	4900691	3	4	392	1	0	0	0	0	1	0	0	0	11430	739	26	2	1166	2	PAPOLB	7	4900691	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09		4900691	154237972	28	21364											
FKBP14	55033	genome.wustl.edu	37	7	30054392	30054392	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr7:30054392T>C	ENST00000222803.5	-	4	770	c.595A>G	c.(595-597)Ata>Gta	p.I199V	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	199	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						CTGGCAGATATAAACCCATCT	0.358																																																0			7											107	101	103					7																	30054392		2202	4297	6499	30020917	SO:0001583	missense	55033			AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"EF-hand domain containing"	18625	protein-coding gene	gene with protein product		614505	"FK506 binding protein 14 (22 kDa)"			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.595A>G	7.37:g.30054392T>C	ENSP00000222803:p.Ile199Val		30020917		Missense_Mutation	SNP	ENST00000222803.5	37	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914092	0.92178	.	.	ENSG00000106080	ENST00000222803	T	0.54866	0.55	5.86	5.86	0.93980	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	M	0.69185	2.1	0.80722	D	1	D	0.58620	0.983	D	0.73708	0.981	T	0.70586	-0.4831	10	0.46703	T	0.11	-20.0578	15.0909	0.72192	0.0:0.0:0.0:1.0	.	199	Q9NWM8	FKB14_HUMAN	V	199	ENSP00000222803:I199V	ENSP00000222803:I199V	I	-	1	0	FKBP14	30020917	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.583000	0.82559	2.240000	0.73641	0.533000	0.62120	ATA		0.358	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		C	30054392	T	C	30054392	3	2	392	1	0	0	0	0	1	0	0	0	5904	1406	49	4	44	4	FKBP14	7	30054392	Missense_Mutation	SNP	T	TCGA-36-2543-01A-01D-1526-09	25153701	30054392	129084271	29	21365											
SAMD9L	219285	genome.wustl.edu	37	7	92763495	92763495	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr7:92763495C>G	ENST00000318238.4	-	5	3006	c.1790G>C	c.(1789-1791)aGa>aCa	p.R597T	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R597T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R597T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	597					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATCTTCATTCTTGTTTGTAG	0.348																																																0			7											90	88	89					7																	92763495		2203	4298	6501	92601431	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1790G>C	7.37:g.92763495C>G	ENSP00000326247:p.Arg597Thr		92601431	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719589	0.30503	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.17691	2.26;2.26;2.26	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.40694	0.1127	M	0.68593	2.085	0.24853	N	0.992392	D	0.76494	0.999	D	0.69479	0.964	T	0.18461	-1.0336	10	0.72032	D	0.01	-21.8495	17.5192	0.87782	0.0:1.0:0.0:0.0	.	597	Q8IVG5	SAM9L_HUMAN	T	597	ENSP00000326247:R597T;ENSP00000405760:R597T;ENSP00000408796:R597T	ENSP00000326247:R597T	R	-	2	0	SAMD9L	92601431	1.000000	0.71417	0.819000	0.32651	0.389000	0.30415	5.483000	0.66838	2.466000	0.83321	0.467000	0.42956	AGA		0.348	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		G	92763495	C	G	92763495	3	3	392	1	0	0	0	0	1	0	0	0	13830	913	32	3	2968	3	SAMD9L	7	92763495	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	62709103	92763495	66375168	30	21366											
LYN	4067	genome.wustl.edu	37	8	56866545	56866545	+	Splice_Site	SNP	T	T	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr8:56866545T>G	ENST00000519728.1	+	8	1086		c.e8+2		LYN_ENST00000520220.2_Splice_Site	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase						B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TCTGGATGGGTAAGTGTGCGG	0.517																																																0			8											96	94	94					8																	56866545		2203	4300	6503	57029099	SO:0001630	splice_region_variant	4067			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.790+2T>G	8.37:g.56866545T>G			57029099	A0AVQ5	Splice_Site	SNP	ENST00000519728.1	37	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624368	0.87560	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1358	0.72566	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LYN	57029099	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.921000	0.87530	2.049000	0.60858	0.528000	0.53228	.		0.517	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350	Intron	G	56866545	T	G	56866545	5	3	392	1	0	0	0	0	0	0	1	0	9107	1652	57	5	818	5	LYN	8	56866545	Splice_Site	SNP	T	TCGA-36-2543-01A-01D-1526-09		56866545	89497477	31	21367											
SDR16C5	195814	genome.wustl.edu	37	8	57228799	57228799	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr8:57228799C>A	ENST00000303749.3	-	2	745	c.108G>T	c.(106-108)aaG>aaT	p.K36N	SDR16C5_ENST00000396721.2_Missense_Mutation_p.K36N|SDR16C5_ENST00000522671.1_Missense_Mutation_p.K36N	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	36					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAGCAACGTTCTTCCGTGGCT	0.458																																																0			8											91	83	86					8																	57228799		2203	4300	6503	57391353	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.108G>T	8.37:g.57228799C>A	ENSP00000307607:p.Lys36Asn		57391353	B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699454	0.48307	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;T	0.89617	-2.54;-2.54;0.7	5.25	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.976;1.0;1.0	D	0.93224	0.6611	10	0.72032	D	0.01	.	11.3003	0.49302	0.0:0.8416:0.0:0.1584	.	36;36;36	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	N	36	ENSP00000379947:K36N;ENSP00000307607:K36N;ENSP00000431010:K36N	ENSP00000307607:K36N	K	-	3	2	SDR16C5	57391353	1.000000	0.71417	0.981000	0.43875	0.100000	0.18952	2.107000	0.41844	2.476000	0.83614	0.563000	0.77884	AAG		0.458	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		A	57228799	C	A	57228799	3	1	392	1	0	0	0	0	1	0	0	0	13974	912	32	3	845	3	SDR16C5	8	57228799	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	362254	57228799	89135223	32	21368											
UBR5	51366	genome.wustl.edu	37	8	103317451	103317451	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr8:103317451G>T	ENST00000520539.1	-	21	3295	c.2689C>A	c.(2689-2691)Caa>Aaa	p.Q897K	UBR5_ENST00000521922.1_Missense_Mutation_p.Q891K|UBR5_ENST00000220959.4_Missense_Mutation_p.Q897K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	897					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)			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)			ACAACCGCTTGCTCAAGATTC	0.403																																					Ovarian(131;96 1741 5634 7352 27489)											0			8											160	158	159					8																	103317451		2203	4300	6503	103386627	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.2689C>A	8.37:g.103317451G>T	ENSP00000429084:p.Gln897Lys		103386627	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.75|12.75	2.031781|2.031781	0.35797|0.35797	.|.	.|.	ENSG00000104517|ENSG00000104517	ENST00000519365|ENST00000520539;ENST00000220959;ENST00000521922	.|T;T;T	.|0.42900	.|0.96;0.96;0.96	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34424|0.34424	0.0897|0.0897	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|P;P	.|0.40332	.|0.713;0.713	.|P;P	.|0.51742	.|0.678;0.678	T|T	0.32481|0.32481	-0.9905|-0.9905	5|10	.|0.18710	.|T	.|0.47	.|.	18.0346|18.0346	0.89296|0.89296	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|891;897	.|E7EMW7;O95071	.|.;UBR5_HUMAN	E|K	12|897;897;891	.|ENSP00000429084:Q897K;ENSP00000220959:Q897K;ENSP00000427819:Q891K	.|ENSP00000220959:Q897K	A|Q	-|-	2|1	0|0	UBR5|UBR5	103386627|103386627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.869000|9.869000	0.99810|0.99810	2.268000|2.268000	0.75426|0.75426	0.305000|0.305000	0.20034|0.20034	GCA|CAA		0.403	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103317451	G	T	103317451	3	4	392	1	0	0	0	0	1	0	0	0	16905	1328	46	3	5866	3	UBR5	8	103317451	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	46088652	103317451	43046571	33	21369											
TMEM71	137835	genome.wustl.edu	37	8	133734347	133734347	+	Missense_Mutation	SNP	G	G	C	rs529129801		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr8:133734347G>C	ENST00000356838.3	-	7	776	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E	TMEM71_ENST00000377901.4_Missense_Mutation_p.Q168E|TMEM71_ENST00000523829.1_Missense_Mutation_p.Q231E	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	231						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGACCTCTTGCAACAACCTG	0.353																																																0			8											103	103	103					8																	133734347		2203	4300	6503	133803529	SO:0001583	missense	137835			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.634C>G	8.37:g.133734347G>C	ENSP00000349296:p.Gln212Glu		133803529	Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	CCDS6366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.822|1.822	-0.471919|-0.471919	0.04445|0.04445	.|.	.|.	ENSG00000165071|ENSG00000165071	ENST00000522780|ENST00000523829;ENST00000356838;ENST00000377901	.|.	.|.	.|.	5.72|5.72	0.381|0.381	0.16228|0.16228	.|.	.|1.835530	.|0.02098	.|N	.|0.053651	T|T	0.28699|0.28699	0.0711|0.0711	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.13594	.|0.008;0.001;0.008	.|B;B;B	.|0.12156	.|0.002;0.001;0.007	T|T	0.22277|0.22277	-1.0221|-1.0221	5|9	.|0.02654	.|T	.|1	9.3289|9.3289	9.4688|9.4688	0.38829|0.38829	0.0:0.4447:0.3053:0.25|0.0:0.4447:0.3053:0.25	.|.	.|231;168;212	.|Q6P5X7;Q6P5X7-3;Q6P5X7-2	.|TMM71_HUMAN;.;.	W|E	68|231;212;168	.|.	.|ENSP00000349296:Q212E	C|Q	-|-	3|1	2|0	TMEM71|TMEM71	133803529|133803529	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	0.266000|0.266000	0.18534|0.18534	0.108000|0.108000	0.17862|0.17862	0.650000|0.650000	0.86243|0.86243	TGC|CAA		0.353	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		C	133734347	G	C	133734347	3	2	392	1	0	0	0	0	1	0	0	0	16200	1328	46	3	212	3	TMEM71	8	133734347	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	30416896	133734347	12629675	34	21370											
FOXD4	2298	genome.wustl.edu	37	9	117579	117579	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr9:117579C>A	ENST00000382500.2	-	1	838	c.541G>T	c.(541-543)Gac>Tac	p.D181Y		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	181					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GAGGCGGGGTCCAGGCTCCAG	0.662																																																0			9											83	116	105					9																	117579		2176	4266	6442	107579	SO:0001583	missense	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.541G>T	9.37:g.117579C>A	ENSP00000371940:p.Asp181Tyr		107579	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	16.05	3.012750	0.54468	.	.	ENSG00000170122	ENST00000382500	D	0.96168	-3.93	2.24	2.24	0.28232	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.39475	U	0.001354	D	0.97679	0.9239	M	0.92833	3.35	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	D	0.97211	0.9871	10	0.87932	D	0	.	8.819	0.35014	0.0:0.7654:0.2346:0.0	.	181	Q12950	FOXD4_HUMAN	Y	181	ENSP00000371940:D181Y	ENSP00000371940:D181Y	D	-	1	0	FOXD4	107579	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.401000	0.59716	1.253000	0.44018	0.291000	0.19559	GAC		0.662	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		A	117579	C	A	117579	3	1	392	1	0	0	0	0	1	0	0	0	5999	855	30	3	782	3	FOXD4	9	117579	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09		117579	141095852	35	21371											
TESK1	7016	genome.wustl.edu	37	9	35609518	35609518	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr9:35609518C>A	ENST00000336395.5	+	10	1910	c.1660C>A	c.(1660-1662)Cca>Aca	p.P554T	MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	554					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAACCCTCGCCACCCCCTTC	0.711																																																0			9											29	36	33					9																	35609518		2190	4292	6482	35599518	SO:0001583	missense	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1660C>A	9.37:g.35609518C>A	ENSP00000338127:p.Pro554Thr		35599518	Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	C	5.299	0.240537	0.10023	.	.	ENSG00000107140	ENST00000535770;ENST00000336395	T	0.73681	-0.77	5.06	4.13	0.48395	.	0.000000	0.43110	D	0.000617	T	0.55081	0.1898	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.10450	0.005;0.003	T	0.34800	-0.9814	10	0.20046	T	0.44	-11.3461	11.6906	0.51514	0.3131:0.6869:0.0:0.0	.	472;554	B4DQQ3;Q15569	.;TESK1_HUMAN	T	85;554	ENSP00000338127:P554T	ENSP00000338127:P554T	P	+	1	0	TESK1	35599518	0.959000	0.32827	0.856000	0.33681	0.598000	0.36846	3.807000	0.55591	2.333000	0.79357	0.563000	0.77884	CCA		0.711	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		A	35609518	C	A	35609518	3	1	392	1	0	0	0	0	1	0	0	0	15767	739	26	3	1698	3	TESK1	9	35609518	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	35491939	35609518	105603913	36	21372											
CNTNAP3	79937	genome.wustl.edu	37	9	39109165	39109165	+	Missense_Mutation	SNP	C	C	T	rs201209922		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr9:39109165C>T	ENST00000297668.6	-	15	2430	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R785H|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R698H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	786	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACGATCTCCGCGGCAGAGCAG	0.448																																																0			9						T	HIS/ARG	0,4406		0,0,2203	47	43	44		2357	-6	0	9		44	2,8598	2.2+/-6.3	0,2,4298	no	missense	CNTNAP3	NM_033655.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	786/1289	39109165	2,13004	2203	4300	6503	39099165	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2357G>A	9.37:g.39109165C>T	ENSP00000297668:p.Arg786His		39099165	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.731735	0.00687	0.0	2.33E-4	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.79554	2.26;-1.28;2.26	2.99	-5.98	0.02220	.	.	.	.	.	T	0.62600	0.2441	L	0.31120	0.905	0.22989	N	0.998465	B;B;B	0.16603	0.002;0.018;0.007	B;B;B	0.11329	0.002;0.006;0.002	T	0.44097	-0.9350	9	0.15952	T	0.53	.	7.1764	0.25747	0.0:0.4892:0.117:0.3937	.	786;785;786	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	H	786;785;698	ENSP00000297668:R786H;ENSP00000366884:R785H;ENSP00000350863:R698H	ENSP00000297668:R786H	R	-	2	0	CNTNAP3	39099165	0.000000	0.05858	0.010000	0.14722	0.025000	0.11179	-0.457000	0.06745	-2.729000	0.00385	-2.620000	0.00156	CGC		0.448	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		T	39109165	C	T	39109165	3	4	392	1	0	0	0	0	1	0	0	0	3648	768	27	1	1549	1	CNTNAP3	9	39109165	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	3499647	39109165	102104266	37	21373											
TRPM6	140803	genome.wustl.edu	37	9	77390934	77390934	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr9:77390934G>A	ENST00000360774.1	-	24	3505	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1090C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1090					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGATGTAGCGATAGCGGTTG	0.493																																																0			9											118	127	124					9																	77390934		2203	4300	6503	76580754	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3268C>T	9.37:g.77390934G>A	ENSP00000354006:p.Arg1090Cys		76580754	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120843	0.94385	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55588	0.6;0.6;0.6;0.6;0.51	5.76	5.76	0.90799	.	0.046412	0.85682	D	0.000000	T	0.72779	0.3503	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67900	0.932;0.931;0.954	T	0.74426	-0.3669	10	0.87932	D	0	.	19.9561	0.97218	0.0:0.0:1.0:0.0	.	1090;1085;1085	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	C	1090;1090;1085;1085;1090;753;753	ENSP00000354006:R1090C;ENSP00000407341:R1090C;ENSP00000396672:R1085C;ENSP00000354962:R1085C;ENSP00000366060:R1090C	ENSP00000309693:R753C	R	-	1	0	TRPM6	76580754	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.827000	0.86722	2.725000	0.93324	0.591000	0.81541	CGC		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		A	77390934	G	A	77390934	3	1	392	1	0	0	0	0	1	0	0	0	16590	1058	37	1	2864	1	TRPM6	9	77390934	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	38281769	77390934	63822497	38	21374											
ZNF438	220929	genome.wustl.edu	37	10	31138940	31138940	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr10:31138940C>G	ENST00000361310.3	-	6	723	c.394G>C	c.(394-396)Gca>Cca	p.A132P	ZNF438_ENST00000413025.1_Missense_Mutation_p.A132P|ZNF438_ENST00000442986.1_Missense_Mutation_p.A132P|ZNF438_ENST00000444692.2_Missense_Mutation_p.A122P|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000452305.1_Missense_Mutation_p.A122P|ZNF438_ENST00000436087.2_Missense_Mutation_p.A132P|ZNF438_ENST00000331737.6_Missense_Mutation_p.A122P|ZNF438_ENST00000538351.2_Missense_Mutation_p.A83P			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	132					negative regulation of transcription, DNA-templated (GO:0045892)|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)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTTCTTGATGCTTTGCTATTT	0.468																																																0			10											173	184	180					10																	31138940		2203	4300	6503	31178946	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.394G>C	10.37:g.31138940C>G	ENSP00000354663:p.Ala132Pro		31178946	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599662	0.28534	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.10382	2.88;2.89;2.89;2.89;2.89;2.88;2.88;2.89	5.63	2.55	0.30701	.	0.795303	0.12286	N	0.482424	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.35500	-0.9786	10	0.32370	T	0.25	-9.2274	7.02	0.24908	0.0:0.7013:0.1412:0.1575	.	132;122	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	P	122;132;132;132;132;122;122;83	ENSP00000333571:A122P;ENSP00000354663:A132P;ENSP00000406934:A132P;ENSP00000412363:A132P;ENSP00000387546:A132P;ENSP00000413060:A122P;ENSP00000410898:A122P;ENSP00000445461:A83P	ENSP00000333571:A122P	A	-	1	0	ZNF438	31178946	0.000000	0.05858	0.077000	0.20336	0.954000	0.61252	0.393000	0.20817	1.386000	0.46466	0.655000	0.94253	GCA		0.468	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31138940	C	G	31138940	3	3	392	1	0	0	0	0	1	0	0	0	17910	797	28	3	2100	3	ZNF438	10	31138940	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09		31138940	104395807	39	21375											
RET	5979	genome.wustl.edu	37	10	43600516	43600516	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr10:43600516G>A	ENST00000355710.3	+	4	974	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	RET_ENST00000340058.5_Missense_Mutation_p.G248S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	248	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGTGCACGCCGGCGCGCGCGA	0.741		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0			10											38	36	37					10																	43600516		2200	4297	6497	42920522	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.742G>A	10.37:g.43600516G>A	ENSP00000347942:p.Gly248Ser		42920522	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	g	8.477	0.858800	0.17178	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.51325	0.71;0.71	5.01	2.11	0.27256	Cadherin (4);Cadherin-like (1);	0.632770	0.17731	N	0.163897	T	0.30135	0.0755	L	0.39633	1.23	0.09310	N	1	B;B	0.18310	0.027;0.005	B;B	0.21708	0.036;0.01	T	0.21827	-1.0234	10	0.10377	T	0.69	.	3.2593	0.06843	0.1511:0.1373:0.5698:0.1418	.	248;248	P07949;P07949-2	RET_HUMAN;.	S	248	ENSP00000347942:G248S;ENSP00000344798:G248S	ENSP00000344798:G248S	G	+	1	0	RET	42920522	0.944000	0.32072	0.002000	0.10522	0.096000	0.18686	1.690000	0.37711	0.287000	0.22375	-0.273000	0.10243	GGC		0.741	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		A	43600516	G	A	43600516	3	1	392	1	0	0	0	0	1	0	0	0	13238	1116	39	1	756	1	RET	10	43600516	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	12461576	43600516	91934231	40	21376											
SBF2	81846	genome.wustl.edu	37	11	9803138	9803138	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr11:9803138A>C	ENST00000256190.8	-	39	5504	c.5367T>G	c.(5365-5367)atT>atG	p.I1789M	SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1789	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CAGCCAGATCAATGTGGCCTT	0.463																																																0			11											216	200	206					11																	9803138		2201	4294	6495	9759714	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.5367T>G	11.37:g.9803138A>C	ENSP00000256190:p.Ile1789Met		9759714	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878248	0.72294	.	.	ENSG00000133812	ENST00000256190	D	0.84516	-1.86	5.76	-0.425	0.12317	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92545	0.7632	H	0.95504	3.68	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.89327	0.3644	10	0.87932	D	0	.	6.159	0.20354	0.5033:0.0:0.3717:0.1251	.	1789	Q86WG5	MTMRD_HUMAN	M	1789	ENSP00000256190:I1789M	ENSP00000256190:I1789M	I	-	3	3	SBF2	9759714	0.910000	0.30920	0.997000	0.53966	0.998000	0.95712	0.116000	0.15561	-0.085000	0.12573	0.533000	0.62120	ATT		0.463	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		C	9803138	A	C	9803138	3	2	392	1	0	0	0	0	1	0	0	0	13862	126	5	5	190	5	SBF2	11	9803138	Missense_Mutation	SNP	A	TCGA-36-2543-01A-01D-1526-09		9803138	125203378	41	21377											
OR5J2	282775	genome.wustl.edu	37	11	55944839	55944839	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr11:55944839C>G	ENST00000312298.1	+	1	746	c.746C>G	c.(745-747)aCc>aGc	p.T249S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACTGCTGTGACCATATTCTAT	0.443																																																0			11											134	125	128					11																	55944839		2201	4296	6497	55701415	SO:0001583	missense	282775			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.746C>G	11.37:g.55944839C>G	ENSP00000310788:p.Thr249Ser		55701415	Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	3.500	-0.101944	0.06967	.	.	ENSG00000174957	ENST00000312298	T	0.38240	1.15	4.26	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.336751	0.25236	N	0.032138	T	0.15782	0.0380	N	0.16066	0.365	0.09310	N	1	P	0.36768	0.569	B	0.35770	0.21	T	0.17048	-1.0382	10	0.15066	T	0.55	.	5.1712	0.15110	0.1208:0.3803:0.4119:0.0871	.	249	Q8NH18	OR5J2_HUMAN	S	249	ENSP00000310788:T249S	ENSP00000310788:T249S	T	+	2	0	OR5J2	55701415	0.000000	0.05858	0.072000	0.20136	0.030000	0.12068	-0.398000	0.07259	0.369000	0.24510	0.591000	0.81541	ACC		0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		G	55944839	C	G	55944839	3	3	392	1	0	0	0	0	1	0	0	0	11165	507	18	3	748	3	OR5J2	11	55944839	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	46141701	55944839	79061677	42	21378											
MTA2	9219	genome.wustl.edu	37	11	62365832	62365832	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr11:62365832C>G	ENST00000278823.2	-	5	728	c.339G>C	c.(337-339)gaG>gaC	p.E113D	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	113	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E113D(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGATATCTGTCTCATTCAAGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											324	351	342					11																	62365832		2202	4299	6501	62122408	SO:0001583	missense	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.339G>C	11.37:g.62365832C>G	ENSP00000278823:p.Glu113Asp		62122408	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094999	0.76870	.	.	ENSG00000149480	ENST00000278823	D	0.84730	-1.89	5.73	2.75	0.32379	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	M	0.66506	2.035	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	D	0.84732	0.0746	10	0.28530	T	0.3	-24.407	7.4762	0.27378	0.0:0.6357:0.0:0.3643	.	113	O94776	MTA2_HUMAN	D	113	ENSP00000278823:E113D	ENSP00000278823:E113D	E	-	3	2	MTA2	62122408	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.626000	0.24492	0.727000	0.32360	0.655000	0.94253	GAG		0.522	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		G	62365832	C	G	62365832	3	3	392	1	0	0	0	0	1	0	0	0	9909	912	32	3	1723	3	MTA2	11	62365832	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	6420993	62365832	72640684	43	21379											
NUDT22	84304	genome.wustl.edu	37	11	63994371	63994371	+	Missense_Mutation	SNP	G	G	A	rs143695088		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr11:63994371G>A	ENST00000279206.3	+	2	403	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	TRPT1_ENST00000546089.1_5'Flank|TRPT1_ENST00000317459.6_5'Flank|TRPT1_ENST00000394546.2_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|TRPT1_ENST00000394547.3_5'Flank|NUDT22_ENST00000441250.2_Missense_Mutation_p.G83S|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000541278.1_5'Flank|TRPT1_ENST00000546133.1_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	83							hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CCTGCGCCTGGGCCTTACTTC	0.662													G|||	1	0.000199681	0	0	5008	,	,		17720	0.001		0	False		,,,				2504	0															0			11											44	47	46					11																	63994371		2201	4296	6497	63750947	SO:0001583	missense	84304			BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"Nudix motif containing"	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.247G>A	11.37:g.63994371G>A	ENSP00000279206:p.Gly83Ser		63750947	C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	CCDS8061.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.139906	0.94560	.	.	ENSG00000149761	ENST00000539325;ENST00000279206;ENST00000441250;ENST00000428347;ENST00000536237	T;T;T;T	0.70516	-0.49;0.39;0.4;-0.4	4.55	4.55	0.56014	.	0.051850	0.85682	D	0.000000	D	0.83917	0.5358	M	0.78049	2.395	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.992;0.995	D	0.86154	0.1589	10	0.72032	D	0.01	-0.9284	16.6018	0.84817	0.0:0.0:1.0:0.0	.	83;83;83	Q9BRQ3-2;C9JY06;Q9BRQ3	.;.;NUD22_HUMAN	S	83	ENSP00000444022:G83S;ENSP00000279206:G83S;ENSP00000407970:G83S;ENSP00000401085:G83S	ENSP00000279206:G83S	G	+	1	0	NUDT22	63750947	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	9.009000	0.93606	2.528000	0.85240	0.491000	0.48974	GGC		0.662	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		A	63994371	G	A	63994371	3	1	392	1	0	0	0	0	1	0	0	0	10739	1232	43	2	249	2	NUDT22	11	63994371	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	1628539	63994371	71012145	44	21380											
EHD1	10938	genome.wustl.edu	37	11	64627570	64627570	+	Silent	SNP	G	G	A	rs374259413		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr11:64627570G>A	ENST00000320631.3	-	3	995	c.741C>T	c.(739-741)ccC>ccT	p.P247P	EHD1_ENST00000359393.2_Silent_p.P247P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	247	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGACCACCTCGGGGGTGTTGA	0.622																																																0			11											94	93	93					11																	64627570		2201	4297	6498	64384146	SO:0001819	synonymous_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.741C>T	11.37:g.64627570G>A			64384146	O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	CCDS8084.1																																																																																				0.622	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		A	64627570	G	A	64627570	2	1	392	1	0	0	0	0	0	0	0	1	4977	1103	39	1		1	EHD1	11	64627570	Silent	SNP	G	TCGA-36-2543-01A-01D-1526-09	633199	64627570	70378946	45	21381											
DSCAML1	57453	genome.wustl.edu	37	11	117302345	117302345	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr11:117302345C>T	ENST00000321322.6	-	31	5460	c.5459G>A	c.(5458-5460)cGc>cAc	p.R1820H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1550H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1760					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGAGGGTGCGGGCAGGTGT	0.627																																																0			11											137	131	133					11																	117302345		2201	4296	6497	116807555	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5459G>A	11.37:g.117302345C>T	ENSP00000315465:p.Arg1820His		116807555	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441562	0.25900	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.61040	0.17;0.14	4.82	4.82	0.62117	.	.	.	.	.	T	0.35008	0.0917	N	0.04508	-0.205	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.21245	-1.0251	9	0.11182	T	0.66	.	17.6813	0.88243	0.0:1.0:0.0:0.0	.	1760	Q8TD84	DSCL1_HUMAN	H	1550;1820;1527	ENSP00000434335:R1550H;ENSP00000315465:R1820H	ENSP00000315465:R1820H	R	-	2	0	DSCAML1	116807555	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.876000	0.69667	2.499000	0.84300	0.561000	0.74099	CGC		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117302345	C	T	117302345	3	4	392	1	0	0	0	0	1	0	0	0	4769	768	27	1	894	1	DSCAML1	11	117302345	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	52674775	117302345	17704171	46	21382											
TBCEL	219899	genome.wustl.edu	37	11	120918333	120918333	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr11:120918333C>T	ENST00000529397.1	+	3	330	c.230C>T	c.(229-231)tCg>tTg	p.S77L	TBCEL_ENST00000422003.2_Missense_Mutation_p.S77L	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	77						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GCTCATGTGTCGGAACTAGAT	0.413																																																0			11											136	122	127					11																	120918333		2203	4299	6502	120423543	SO:0001583	missense	219899			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.230C>T	11.37:g.120918333C>T	ENSP00000437184:p.Ser77Leu		120423543	Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804776	0.50315	.	.	ENSG00000154114	ENST00000529397;ENST00000528512;ENST00000422003;ENST00000524726	T;T;T	0.17691	2.26;2.26;2.26	5.59	5.59	0.84812	.	0.270334	0.38663	N	0.001619	T	0.12987	0.0315	N	0.22421	0.69	0.51482	D	0.999921	B	0.10296	0.003	B	0.09377	0.004	T	0.08764	-1.0706	10	0.29301	T	0.29	-0.0398	14.7685	0.69657	0.0:0.9289:0.0:0.0711	.	77	Q5QJ74	TBCEL_HUMAN	L	77	ENSP00000437184:S77L;ENSP00000403925:S77L;ENSP00000432783:S77L	ENSP00000284259:S77L	S	+	2	0	TBCEL	120423543	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	4.601000	0.61090	2.625000	0.88918	0.585000	0.79938	TCG		0.413	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		T	120918333	C	T	120918333	3	4	392	1	0	0	0	0	1	0	0	0	15635	893	31	1	236	1	TBCEL	11	120918333	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	3615988	120918333	14088183	47	21383											
CNTN1	1272	genome.wustl.edu	37	12	41316223	41316223	+	Silent	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr12:41316223C>T	ENST00000551295.2	+	5	510	c.393C>T	c.(391-393)agC>agT	p.S131S	CNTN1_ENST00000547702.1_Silent_p.S131S|CNTN1_ENST00000348761.2_Silent_p.S120S|CNTN1_ENST00000347616.1_Silent_p.S131S|CNTN1_ENST00000547849.1_Silent_p.S131S|CNTN1_ENST00000360099.3_Silent_p.S131S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	131	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAACCCTGAGCTTTGGATGTA	0.403																																																0			12											100	90	93					12																	41316223		2203	4300	6503	39602490	SO:0001819	synonymous_variant	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.393C>T	12.37:g.41316223C>T			39602490	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	CCDS8737.1																																																																																				0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		T	41316223	C	T	41316223	2	4	392	1	0	0	0	0	0	0	0	1	3640	796	28	2		2	CNTN1	12	41316223	Silent	SNP	C	TCGA-36-2543-01A-01D-1526-09		41316223	92535672	48	21384											
C12orf62	84987	genome.wustl.edu	37	12	50513995	50513995	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr12:50513995A>T	ENST00000550487.1	+	2	500	c.169A>T	c.(169-171)Atg>Ttg	p.M57L	RP4-605O3.4_ENST00000552815.1_RNA|COX14_ENST00000548985.1_Missense_Mutation_p.M57L|COX14_ENST00000550654.1_Missense_Mutation_p.M57L|COX14_ENST00000317943.2_Missense_Mutation_p.M57L	NM_001257134.1|NM_032901.3	NP_001244063.1|NP_116290.1	Q96I36	COX14_HUMAN	cytochrome c oxidase assembly homolog 14 (S. cerevisiae)	57					mitochondrial respiratory chain complex IV assembly (GO:0033617)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											CTCAGGAATCATGTAGAACTG	0.567																																																0			12											50	46	48					12																	50513995		2203	4300	6503	48800262	SO:0001583	missense	84987				CCDS8800.1	12q13.12	2012-10-15	2012-10-15	2012-02-23		ENSG00000178449		"Mitochondrial respiratory chain complex assembly factors"	28216	protein-coding gene	gene with protein product		614478	"chromosome 12 open reading frame 62", "COX14 cytochrome c oxidase assembly homolog (S. cerevisiae)"	C12orf62		22243966, 22356826	Standard	NM_032901		Approved	MGC14288	uc031qhh.1	Q96I36		ENST00000550487.1:c.169A>T	12.37:g.50513995A>T	ENSP00000446524:p.Met57Leu		48800262	B2R5G6	Missense_Mutation	SNP	ENST00000550487.1	37	CCDS8800.1	.	.	.	.	.	.	.	.	.	.	A	4.290	0.052940	0.08291	.	.	ENSG00000178449	ENST00000550487;ENST00000317943;ENST00000550654;ENST00000548985	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.55	2.77	0.32553	.	0.696719	0.11869	N	0.521588	T	0.41096	0.1144	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	9	0.02654	T	1	.	5.5759	0.17222	0.1591:0.6754:0.0:0.1655	.	57	Q96I36	CL062_HUMAN	L	57	ENSP00000446524:M57L;ENSP00000326052:M57L;ENSP00000450331:M57L;ENSP00000447776:M57L	ENSP00000326052:M57L	M	+	1	0	C12orf62	48800262	0.405000	0.25336	0.002000	0.10522	0.405000	0.30901	0.479000	0.22228	0.412000	0.25729	-0.830000	0.03078	ATG		0.567	COX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406024.2	NM_032901		T	50513995	A	T	50513995	3	4	392	1	0	0	0	0	1	0	0	0	1705	217	8	5	171	5	C12orf62	12	50513995	Missense_Mutation	SNP	A	TCGA-36-2543-01A-01D-1526-09	9197772	50513995	83337900	49	21385											
KRT79	338785	genome.wustl.edu	37	12	53224025	53224025	+	Silent	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr12:53224025C>G	ENST00000330553.5	-	3	784	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	250	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTCTTGAGCACCACAAACT	0.587																																																0			12											212	159	177					12																	53224025		2203	4300	6503	51510292	SO:0001819	synonymous_variant	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.750G>C	12.37:g.53224025C>G			51510292	Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	CCDS8839.1																																																																																				0.587	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		G	53224025	C	G	53224025	2	3	392	1	0	0	0	0	0	0	0	1	8492	697	25	3		3	KRT79	12	53224025	Silent	SNP	C	TCGA-36-2543-01A-01D-1526-09	2710030	53224025	80627870	50	21386											
PAK6	56924	genome.wustl.edu	37	15	40558489	40558489	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr15:40558489G>A	ENST00000542403.2	+	3	762	c.651G>A	c.(649-651)atG>atA	p.M217I	PAK6_ENST00000453867.1_Missense_Mutation_p.M217I|PAK6_ENST00000260404.4_Missense_Mutation_p.M217I|PAK6_ENST00000560346.1_Missense_Mutation_p.M217I|PAK6_ENST00000441369.1_Missense_Mutation_p.M217I|PAK6_ENST00000455577.2_Missense_Mutation_p.M217I|PAK6_ENST00000559901.1_3'UTR|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	217	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGCATGGAATGAAGGCTGCCA	0.667																																																0			15											19	22	21					15																	40558489		2193	4286	6479	38345781	SO:0001583	missense	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.651G>A	15.37:g.40558489G>A	ENSP00000439597:p.Met217Ile		38345781	A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770480	0.15983	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.72835	-0.66;-0.66;-0.69;-0.66;-0.66	5.47	2.38	0.29361	.	1.427710	0.04413	N	0.366363	T	0.53318	0.1789	N	0.08118	0	0.21915	N	0.999476	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42616	-0.9441	10	0.38643	T	0.18	.	9.6609	0.39954	0.1154:0.4507:0.4339:0.0	.	217;217	Q9NQU5;G5E9R2	PAK6_HUMAN;.	I	217	ENSP00000406873:M217I;ENSP00000401153:M217I;ENSP00000409465:M217I;ENSP00000260404:M217I;ENSP00000439597:M217I	ENSP00000260404:M217I	M	+	3	0	PAK6	38345781	0.253000	0.23982	0.210000	0.23637	0.314000	0.28054	0.028000	0.13644	0.683000	0.31428	0.555000	0.69702	ATG		0.667	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			A	40558489	G	A	40558489	3	1	392	1	0	0	0	0	1	0	0	0	11404	1290	45	2	657	2	PAK6	15	40558489	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09		40558489	61972903	51	21387											
SETD1A	9739	genome.wustl.edu	37	16	30975449	30975449	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr16:30975449C>G	ENST00000262519.8	+	6	1360	c.674C>G	c.(673-675)gCt>gGt	p.A225G		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	225					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCTGACACAGCTGCCTACCCA	0.622																																																0			16											78	76	77					16																	30975449		2197	4300	6497	30882950	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.674C>G	16.37:g.30975449C>G	ENSP00000262519:p.Ala225Gly		30882950	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	9.134	1.012033	0.19277	.	.	ENSG00000099381	ENST00000262519;ENST00000452917	D	0.94650	-3.48	4.3	4.3	0.51218	.	0.350609	0.28940	N	0.013651	D	0.87241	0.6128	N	0.08118	0	0.28032	N	0.93409	B	0.27823	0.19	B	0.24701	0.055	T	0.81634	-0.0844	10	0.48119	T	0.1	.	15.0634	0.71973	0.0:1.0:0.0:0.0	.	225	O15047	SET1A_HUMAN	G	225	ENSP00000262519:A225G	ENSP00000262519:A225G	A	+	2	0	SETD1A	30882950	0.082000	0.21442	0.932000	0.37286	0.412000	0.31113	1.751000	0.38339	2.675000	0.91044	0.561000	0.74099	GCT		0.622	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		G	30975449	C	G	30975449	3	3	392	1	0	0	0	0	1	0	0	0	14133	797	28	3	692	3	SETD1A	16	30975449	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09		30975449	59379304	52	21388											
TP53	7157	genome.wustl.edu	37	17	7577153	7577153	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr17:7577153C>A	ENST00000269305.4	-	8	974	c.785G>T	c.(784-786)gGt>gTt	p.G262V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G262V|TP53_ENST00000445888.2_Missense_Mutation_p.G262V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G262V|TP53_ENST00000420246.2_Missense_Mutation_p.G262V	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	262	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). {ECO:0000269|Ref.23}.|GN -> PD (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G262V(19)|p.0?(8)|p.G262D(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262fs*83(2)|p.G262_S269delGNLLGRNS(2)|p.G262del(2)|p.G262H(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.G262fs*2(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)	CAGTAGATTACCACTACTCAG	0.517		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"	46	Substitution - Missense(24)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(3)|Complex - deletion inframe(1)	lung(8)|large_intestine(5)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(5)|upper_aerodigestive_tract(4)|bone(4)|endometrium(2)|urinary_tract(2)|pancreas(2)|eye(1)|liver(1)|breast(1)|stomach(1)	17											40	37	38					17																	7577153		2203	4299	6502	7517878	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.785G>T	17.37:g.7577153C>A	ENSP00000269305:p.Gly262Val		7517878	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565296	0.86439	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99957	-9.0;-9.0;-9.0;-9.0;-9.0;-9.0	5.03	5.03	0.67393	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	0.99955	0.9981	M	0.90977	3.165	0.80722	D	1	D;P;D;D	0.89917	1.0;0.819;0.999;1.0	D;P;D;D	0.83275	0.996;0.537;0.996;0.992	D	0.95599	0.8661	10	0.87932	D	0	-15.6281	15.9038	0.79403	0.0:1.0:0.0:0.0	.	262;262;262;262	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	262;262;262;262;262;251;130	ENSP00000352610:G262V;ENSP00000269305:G262V;ENSP00000398846:G262V;ENSP00000391127:G262V;ENSP00000391478:G262V;ENSP00000425104:G130V	ENSP00000269305:G262V	G	-	2	0	TP53	7517878	1.000000	0.71417	0.951000	0.38953	0.085000	0.17905	7.572000	0.82409	2.619000	0.88677	0.462000	0.41574	GGT		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577153	C	A	7577153	3	1	392	1	0	0	0	0	1	0	0	0	16381	507	18	3	501	3	TP53	17	7577153	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09		7577153	73618057	53	21389											
SMCR8	140775	genome.wustl.edu	37	17	18219709	18219709	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr17:18219709G>C	ENST00000406438.3	+	1	1086	c.606G>C	c.(604-606)ttG>ttC	p.L202F	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	202						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGAAAGACTTGGATTACACCA	0.458																																																0			17											57	59	58					17																	18219709		2203	4300	6503	18160434	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.606G>C	17.37:g.18219709G>C	ENSP00000385025:p.Leu202Phe		18160434	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776539	0.49786	.	.	ENSG00000176994	ENST00000406438	D	0.88354	-2.37	6.03	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.92176	0.7519	M	0.71581	2.175	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	D	0.91481	0.5204	10	0.87932	D	0	-12.0823	5.3978	0.16278	0.0725:0.1128:0.5939:0.2208	.	202	Q8TEV9	SMCR8_HUMAN	F	202	ENSP00000385025:L202F	ENSP00000385025:L202F	L	+	3	2	SMCR8	18160434	0.989000	0.36119	1.000000	0.80357	0.993000	0.82548	0.142000	0.16096	2.861000	0.98227	0.655000	0.94253	TTG		0.458	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		C	18219709	G	C	18219709	3	2	392	1	0	0	0	0	1	0	0	0	14795	1339	47	3	608	3	SMCR8	17	18219709	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	10642556	18219709	62975501	54	21390											
NF1	4763	genome.wustl.edu	37	17	29665110	29665110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr17:29665110C>T	ENST00000358273.4	+	45	7155	c.6772C>T	c.(6772-6774)Cga>Tga	p.R2258*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R2237*|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Nonsense_Mutation_p.R51*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2258					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.R2258*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTAGCAAACGAGTGTCTCA	0.388			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CI972653|CM000815	NF1	I|M							160	155	157					17																	29665110		2203	4300	6503	26689236	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6772C>T	17.37:g.29665110C>T	ENSP00000351015:p.Arg2258*		26689236	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097915	0.76870	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.53	4.46	0.54185	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	15.806	0.78513	0.1763:0.8237:0.0:0.0	.	.	.	.	X	2258;2237;1903;51	.	ENSP00000348498:R2237X	R	+	1	2	NF1	26689236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.529000	0.35996	2.763000	0.94921	0.563000	0.77884	CGA		0.388	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29665110	C	T	29665110	4	4	392	1	0	0	0	0	0	1	0	0	10356	528	19	1	7011	1	NF1	17	29665110	Nonsense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	11445401	29665110	51530100	55	21391											
PRKCA	5578	genome.wustl.edu	37	17	64782999	64782999	+	Silent	SNP	T	T	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr17:64782999T>G	ENST00000413366.3	+	15	1646	c.1620T>G	c.(1618-1620)ggT>ggG	p.G540G	MIR634_ENST00000385208.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	540	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CATTTGATGGTGAAGATGAAG	0.433																																																0			17											103	91	95					17																	64782999		2203	4300	6503	62213461	SO:0001819	synonymous_variant	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1620T>G	17.37:g.64782999T>G			62213461	B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	CCDS11664.1																																																																																				0.433	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			G	64782999	T	G	64782999	2	3	392	1	0	0	0	0	0	0	0	1	12510	1683	59	5		5	PRKCA	17	64782999	Silent	SNP	T	TCGA-36-2543-01A-01D-1526-09	35117889	64782999	16412211	56	21392											
KDM4B	23030	genome.wustl.edu	37	19	5039897	5039897	+	Silent	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr19:5039897C>T	ENST00000159111.4	+	4	410	c.192C>T	c.(190-192)gaC>gaT	p.D64D	KDM4B_ENST00000381759.4_Silent_p.D64D|KDM4B_ENST00000536461.1_Silent_p.D64D	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	64					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACATCGACGACGTGGTGA	0.612																																																0			19											79	76	77					19																	5039897		2203	4300	6503	4990897	SO:0001819	synonymous_variant	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.192C>T	19.37:g.5039897C>T			4990897	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	CCDS12138.1																																																																																				0.612	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		T	5039897	C	T	5039897	2	4	392	1	0	0	0	0	0	0	0	1	8129	535	19	1		1	KDM4B	19	5039897	Silent	SNP	C	TCGA-36-2543-01A-01D-1526-09		5039897	54089086	57	21393											
FARSA	2193	genome.wustl.edu	37	19	13035072	13035072	+	Silent	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr19:13035072C>T	ENST00000314606.4	-	12	1299	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	FARSA_ENST00000423140.2_Silent_p.K396K|FARSA_ENST00000588025.1_Silent_p.K467K	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	427					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCACCCACTTCTTCAGGCCTG	0.612																																																0			19											68	71	70					19																	13035072		2203	4300	6503	12896072	SO:0001819	synonymous_variant	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1281G>A	19.37:g.13035072C>T			12896072	B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	CCDS12287.1																																																																																				0.612	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		T	13035072	C	T	13035072	2	4	392	1	0	0	0	0	0	0	0	1	5679	912	32	2		2	FARSA	19	13035072	Silent	SNP	C	TCGA-36-2543-01A-01D-1526-09	7995175	13035072	46093911	58	21394											
ZNF737	100129842	genome.wustl.edu	37	19	20727739	20727739	+	Missense_Mutation	SNP	G	G	A	rs200133247		TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr19:20727739G>A	ENST00000427401.4	-	4	1364	c.1270C>T	c.(1270-1272)Ccc>Tcc	p.P424S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CACTTGAAGGGTTGCTGTCCA	0.408													g|||	1	0.000199681	0	0	5008	,	,		22677	0		0.001	False		,,,				2504	0															0			19						G	SER/PRO	0,1384		0,0,692	202	198	199		1270	0.8	0.2	19		199	2,3180		0,2,1589	no	missense	ZNF737	NM_001159293.1	74	0,2,2281	AA,AG,GG		0.0629,0.0,0.0438	possibly-damaging	424/537	20727739	2,4564	692	1591	2283	20519579	SO:0001583	missense	0			BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1270C>T	19.37:g.20727739G>A	ENSP00000395733:p.Pro424Ser		20519579	C9JHM3	RNA	SNP	ENST00000427401.4	37	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	8.594	0.885163	0.17540	0.0	6.29E-4	ENSG00000237440	ENST00000427401	T	0.28454	1.61	0.801	0.801	0.18679	.	.	.	.	.	T	0.31638	0.0803	L	0.53617	1.68	0.31530	N	0.661271	P	0.44690	0.841	P	0.45946	0.498	T	0.39941	-0.9589	9	0.72032	D	0.01	.	6.955	0.24565	0.0:0.0:1.0:0.0	.	424	C9JHM3	.	S	424	ENSP00000395733:P424S	ENSP00000395733:P424S	P	-	1	0	ZNF737	20519579	0.986000	0.35501	0.169000	0.22859	0.171000	0.22731	2.125000	0.42016	0.170000	0.19704	0.173000	0.16961	CCC		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		A	20727739	G	A	20727739	3	1	392	1	0	0	0	0	1	0	0	0	18126	1261	44	2	344	2	ZNF737	19	20727739	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09	7692667	20727739	38401244	59	21395											
HKR1	284459	genome.wustl.edu	37	19	37853871	37853871	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr19:37853871C>G	ENST00000324411.4	+	6	1443	c.1174C>G	c.(1174-1176)Cgt>Ggt	p.R392G	HKR1_ENST00000544914.1_Missense_Mutation_p.R119G|HKR1_ENST00000392153.3_Missense_Mutation_p.R373G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.R331G|HKR1_ENST00000591471.1_Missense_Mutation_p.R119G|HKR1_ENST00000589392.1_Missense_Mutation_p.R374G	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	392					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAATGTGGGCGTGGCTTTCG	0.527																																																0			19											97	93	95					19																	37853871		2203	4300	6503	42545711	SO:0001583	missense	284459			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1174C>G	19.37:g.37853871C>G	ENSP00000315505:p.Arg392Gly		42545711	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	C	9.293	1.051036	0.19827	.	.	ENSG00000181666	ENST00000544914;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	3.22	-0.711	0.11230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28995	0.0720	M	0.74881	2.28	0.21386	N	0.999702	P;B;D;B	0.54207	0.638;0.009;0.965;0.011	P;B;P;B	0.50231	0.499;0.018;0.635;0.03	T	0.17198	-1.0377	9	0.87932	D	0	.	4.8926	0.13735	0.5786:0.2988:0.0:0.1226	.	331;373;392;374	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	G	119;373;428;392;331	ENSP00000437774:R119G;ENSP00000375994:R373G;ENSP00000315505:R392G;ENSP00000438261:R331G	ENSP00000315505:R392G	R	+	1	0	HKR1	42545711	0.001000	0.12720	0.090000	0.20809	0.781000	0.44180	1.002000	0.29796	0.169000	0.19679	0.650000	0.86243	CGT		0.527	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		G	37853871	C	G	37853871	3	3	392	1	0	0	0	0	1	0	0	0	7194	768	27	3	1188	3	HKR1	19	37853871	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	17126132	37853871	21275112	60	21396											
YIF1B	90522	genome.wustl.edu	37	19	38800255	38800255	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr19:38800255C>G	ENST00000339413.6	-	2	132	c.87G>C	c.(85-87)caG>caC	p.Q29H	YIF1B_ENST00000337679.8_Missense_Mutation_p.Q26H|YIF1B_ENST00000591784.1_5'UTR|YIF1B_ENST00000329420.8_Missense_Mutation_p.Q14H|YIF1B_ENST00000592246.1_5'UTR|YIF1B_ENST00000592694.1_5'UTR|YIF1B_ENST00000591755.1_Missense_Mutation_p.Q26H|YIF1B_ENST00000392124.3_5'UTR|YIF1B_ENST00000587361.1_5'UTR	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	29						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCATGCCCGGCTGGGACACAG	0.622																																																0			19											23	25	24					19																	38800255		2196	4294	6490	43492095	SO:0001583	missense	90522			AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.87G>C	19.37:g.38800255C>G	ENSP00000343435:p.Gln29His		43492095	H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	ENST00000339413.6	37	CCDS33010.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637803	0.29157	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000337679	T;T;T	0.56611	0.85;0.87;0.45	4.57	1.22	0.21188	.	0.510880	0.20009	N	0.101162	T	0.29458	0.0734	N	0.22421	0.69	0.27477	N	0.952697	B;B;B;B;B	0.24823	0.004;0.001;0.0;0.0;0.112	B;B;B;B;B	0.20184	0.004;0.002;0.0;0.001;0.028	T	0.10590	-1.0623	10	0.39692	T	0.17	-21.1062	1.2968	0.02071	0.177:0.4516:0.1723:0.1991	.	26;26;29;26;26	Q5BJH7-5;Q5BJH7-4;Q5BJH7;Q5BJH7-3;B7Z961	.;.;YIF1B_HUMAN;.;.	H	29;14;26	ENSP00000343435:Q29H;ENSP00000329559:Q14H;ENSP00000337411:Q26H	ENSP00000329559:Q14H	Q	-	3	2	YIF1B	43492095	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	0.742000	0.26216	0.173000	0.19788	0.442000	0.29010	CAG		0.622	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		G	38800255	C	G	38800255	3	3	392	1	0	0	0	0	1	0	0	0	17476	796	28	3	966	3	YIF1B	19	38800255	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	946384	38800255	20328728	61	21397											
FCGBP	8857	genome.wustl.edu	37	19	40433851	40433851	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr19:40433851C>T	ENST00000221347.6	-	2	425	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	140	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTCGGTGCCTAGGGCCTGG	0.607																																																0			19											58	51	54					19																	40433851		2203	4300	6503	45125691	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.418G>A	19.37:g.40433851C>T	ENSP00000221347:p.Gly140Ser		45125691	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788377	0.49997	.	.	ENSG00000090920	ENST00000221347	T	0.36157	1.27	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000006	T	0.54498	0.1862	L	0.51914	1.62	0.36709	D	0.880561	D	0.89917	1.0	D	0.91635	0.999	T	0.63976	-0.6515	10	0.87932	D	0	.	16.3742	0.83379	0.0:1.0:0.0:0.0	.	140	Q9Y6R7	FCGBP_HUMAN	S	140	ENSP00000221347:G140S	ENSP00000221347:G140S	G	-	1	0	FCGBP	45125691	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	6.302000	0.72788	2.603000	0.88011	0.655000	0.94253	GGC		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40433851	C	T	40433851	3	4	392	1	0	0	0	0	1	0	0	0	5778	681	24	2	15939	2	FCGBP	19	40433851	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09	1633596	40433851	18695132	62	21398											
NPAS1	4861	genome.wustl.edu	37	19	47542391	47542391	+	Silent	SNP	C	C	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr19:47542391C>G	ENST00000602212.1	+	7	1006	c.786C>G	c.(784-786)gtC>gtG	p.V262V	NPAS1_ENST00000602189.1_Silent_p.V86V|NPAS1_ENST00000439365.2_Silent_p.V86V|NPAS1_ENST00000449844.2_Silent_p.V262V			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	262					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GGCTGCACGTCAAGGCCTCAG	0.627																																																0			19											56	54	55					19																	47542391		2203	4300	6503	52234231	SO:0001819	synonymous_variant	4861			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"Basic helix-loop-helix proteins"	7894	protein-coding gene	gene with protein product	"neuronal PAS1", "member of PAS superfamily 5"	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.786C>G	19.37:g.47542391C>G			52234231	B4DR69|Q99632|Q9BY83	Silent	SNP	ENST00000602212.1	37	CCDS12694.1																																																																																				0.627	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517		G	47542391	C	G	47542391	2	3	392	1	0	0	0	0	0	0	0	1	10562	813	29	3		3	NPAS1	19	47542391	Silent	SNP	C	TCGA-36-2543-01A-01D-1526-09	7108540	47542391	11586592	63	21399											
ZNF841	284371	genome.wustl.edu	37	19	52569725	52569725	+	Silent	SNP	T	T	C			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr19:52569725T>C	ENST00000426391.2	-	5	1613	c.1062A>G	c.(1060-1062)tcA>tcG	p.S354S	ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000594295.1_Silent_p.S470S|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000389534.4_Silent_p.S470S|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	354					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)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CTGCAAGACGTGAACGTTGAA	0.413																																																0			19											41	36	37					19																	52569725		692	1591	2283	57261537	SO:0001819	synonymous_variant	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1062A>G	19.37:g.52569725T>C			57261537	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37																																																																																					0.413	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		C	52569725	T	C	52569725	2	2	392	1	0	0	0	0	0	0	0	1	18189	1683	59	4		4	ZNF841	19	52569725	Silent	SNP	T	TCGA-36-2543-01A-01D-1526-09	5027334	52569725	6559258	64	21400											
ADRM1	11047	genome.wustl.edu	37	20	60883116	60883116	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chr20:60883116C>T	ENST00000253003.2	+	8	942	c.896C>T	c.(895-897)cCc>cTc	p.P299L	LAMA5_ENST00000492698.1_5'UTR|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	299					positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ATAATGGCTCCCATCCTCGCC	0.612																																																0			20											60	51	54					20																	60883116		2197	4295	6492	60316511	SO:0001583	missense	11047			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.896C>T	20.37:g.60883116C>T	ENSP00000253003:p.Pro299Leu		60316511	A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704042	0.96812	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.83390	0.5244	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85511	0.1197	9	0.87932	D	0	-22.5039	18.7766	0.91913	0.0:1.0:0.0:0.0	.	299	Q16186	ADRM1_HUMAN	L	278;299	.	ENSP00000253003:P299L	P	+	2	0	ADRM1	60316511	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	5.685000	0.68204	2.541000	0.85698	0.561000	0.74099	CCC		0.612	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			T	60883116	C	T	60883116	3	4	392	1	0	0	0	0	1	0	0	0	345	623	22	2	922	2	ADRM1	20	60883116	Missense_Mutation	SNP	C	TCGA-36-2543-01A-01D-1526-09		60883116	2142404	65	21401											
MID2	11043	genome.wustl.edu	37	X	107084583	107084583	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chrX:107084583G>A	ENST00000262843.6	+	2	1236	c.688G>A	c.(688-690)Gca>Aca	p.A230T	MID2_ENST00000443968.2_Missense_Mutation_p.A230T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	230					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCATCAGGTCGCATCCCTGAA	0.448																																																0			X											75	60	65					X																	107084583		2203	4300	6503	106971239	SO:0001583	missense	11043				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.688G>A	X.37:g.107084583G>A	ENSP00000262843:p.Ala230Thr		106971239	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	8.147	0.786515	0.16189	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.40476	1.03;1.03;1.03	5.94	5.94	0.96194	Zinc finger, B-box (3);	0.059273	0.64402	D	0.000001	T	0.28532	0.0706	L	0.33137	0.985	0.41172	D	0.986171	B;P	0.34997	0.333;0.479	B;B	0.23419	0.046;0.035	T	0.12066	-1.0562	10	0.09590	T	0.72	.	16.5117	0.84287	0.0:0.0:1.0:0.0	.	230;230	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	T	210;230;230	ENSP00000410730:A210T;ENSP00000262843:A230T;ENSP00000413976:A230T	ENSP00000262843:A230T	A	+	1	0	MID2	106971239	1.000000	0.71417	0.437000	0.26809	0.933000	0.57130	4.954000	0.63631	2.506000	0.84524	0.600000	0.82982	GCA		0.448	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		A	107084583	G	A	107084583	3	1	392	1	0	0	0	0	1	0	0	0	9578	1087	38	1	694	1	MID2	23	107084583	Missense_Mutation	SNP	G	TCGA-36-2543-01A-01D-1526-09		107084583	48185977	66	21402											
GPR112	139378	genome.wustl.edu	37	X	135428631	135428631	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chrX:135428631T>G	ENST00000394143.1	+	6	3057	c.2766T>G	c.(2764-2766)agT>agG	p.S922R	GPR112_ENST00000287534.4_Missense_Mutation_p.S859R|GPR112_ENST00000394141.1_Missense_Mutation_p.S717R|GPR112_ENST00000412101.1_Missense_Mutation_p.S717R|GPR112_ENST00000370652.1_Missense_Mutation_p.S922R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	922					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACCTAGGAGTTCATACAATG	0.378																																																0			X											106	104	105					X																	135428631		2202	4299	6501	135256297	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2766T>G	X.37:g.135428631T>G	ENSP00000377699:p.Ser922Arg		135256297	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	T	9.911	1.209595	0.22289	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35605	1.33;1.33;1.3;1.43;1.3	2.53	0.0586	0.14328	.	.	.	.	.	T	0.27169	0.0666	L	0.29908	0.895	0.09310	N	1	P;P;P	0.43701	0.815;0.815;0.718	P;P;B	0.45099	0.469;0.469;0.278	T	0.14364	-1.0475	9	0.59425	D	0.04	.	4.3429	0.11119	0.0:0.3499:0.0:0.6501	.	859;717;922	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	R	922;922;717;859;717	ENSP00000377699:S922R;ENSP00000359686:S922R;ENSP00000416526:S717R;ENSP00000287534:S859R;ENSP00000377697:S717R	ENSP00000287534:S859R	S	+	3	2	GPR112	135256297	0.003000	0.15002	0.006000	0.13384	0.397000	0.30659	0.004000	0.13106	-0.061000	0.13110	0.235000	0.17854	AGT		0.378	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			G	135428631	T	G	135428631	3	3	392	1	0	0	0	0	1	0	0	0	6629	1722	60	5	2776	5	GPR112	23	135428631	Missense_Mutation	SNP	T	TCGA-36-2543-01A-01D-1526-09	28344048	135428631	19841929	67	21403											
AFF2	2334	genome.wustl.edu	37	X	147967464	147967464	+	Silent	SNP	T	T	C			TCGA-36-2543-01A-01D-1526-09	TCGA-36-2543-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c0e2ee16-f147-4b50-8efe-48f5303a1dee	23e88e28-f8a7-4d32-8b1e-0aad28fc8135	g.chrX:147967464T>C	ENST00000370460.2	+	8	1787	c.1308T>C	c.(1306-1308)ctT>ctC	p.L436L	AFF2_ENST00000342251.3_Silent_p.L403L|AFF2_ENST00000370458.1_Silent_p.L397L|AFF2_ENST00000370457.5_Silent_p.L403L|AFF2_ENST00000286437.5_Silent_p.L77L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	436					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATGACCTTGAGCCTGTGA	0.483																																																0			X											334	280	299					X																	147967464		2203	4300	6503	147775157	SO:0001819	synonymous_variant	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1308T>C	X.37:g.147967464T>C			147775157	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				0.483	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		C	147967464	T	C	147967464	2	2	392	1	0	0	0	0	0	0	0	1	357	1799	63	4		4	AFF2	23	147967464	Silent	SNP	T	TCGA-36-2543-01A-01D-1526-09	12538833	147967464	7303096	68	21404											
HTR6	3362	genome.wustl.edu	37	1	20005164	20005164	+	Silent	SNP	G	G	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr1:20005164G>A	ENST00000289753.1	+	2	1286	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	273					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TGGGCATCCTGCTGGGCATGT	0.632																																					Esophageal Squamous(168;1879 2619 6848 21062)											0			1											79	61	67					1																	20005164		2203	4300	6503	19877751	SO:0001819	synonymous_variant	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.819G>A	1.37:g.20005164G>A			19877751	Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	CCDS197.1																																																																																				0.632	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		A	20005164	G	A	20005164	2	1	393	1	0	0	0	0	0	0	0	1	7451	1306	46	2		2	HTR6	1	20005164	Silent	SNP	G	TCGA-36-2544-01A-01D-1526-09		20005164	229245457	1	21405											
STX12	23673	genome.wustl.edu	37	1	28099860	28099860	+	Silent	SNP	C	C	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr1:28099860C>T	ENST00000373943.4	+	1	167	c.42C>T	c.(40-42)ccC>ccT	p.P14P	STX12_ENST00000468761.1_3'UTR|RP3-426I6.5_ENST00000602607.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	14					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGGGGCCCTCGGGGCCCC	0.652																																					Ovarian(5;5 342 2097 9488 34083)											0			1											18	23	22					1																	28099860		2196	4291	6487	27972447	SO:0001819	synonymous_variant	23673			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.42C>T	1.37:g.28099860C>T			27972447	B1AJQ7|O95564	Silent	SNP	ENST00000373943.4	37	CCDS310.1																																																																																				0.652	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		T	28099860	C	T	28099860	2	4	393	1	0	0	0	0	0	0	0	1	15340	668	24	2		2	STX12	1	28099860	Silent	SNP	C	TCGA-36-2544-01A-01D-1526-09	8094696	28099860	221150761	2	21406											
MEAF6	64769	genome.wustl.edu	37	1	37975112	37975112	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr1:37975112G>A	ENST00000296214.5	-	3	265	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000373075.2_Missense_Mutation_p.R80W|MEAF6_ENST00000373074.1_Missense_Mutation_p.R58W|MEAF6_ENST00000448519.2_Missense_Mutation_p.R80W|MEAF6_ENST00000373073.4_Missense_Mutation_p.R80W	NM_001270875.1	NP_001257804.1	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	80					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TTAAACTTCCGGTTCCTTCGA	0.473																																																0			1											192	190	191					1																	37975112		2203	4300	6503	37747699	SO:0001583	missense	64769			BC016328	CCDS418.1, CCDS59195.1, CCDS59196.1	1p35.3-p33	2011-08-12	2009-07-13	2009-07-13	ENSG00000163875	ENSG00000163875			25674	protein-coding gene	gene with protein product	"Esa1p-associated factor 6 homolog (S. cerevisiae)", "centromere protein 28"	611001	"chromosome 1 open reading frame 149"	C1orf149		8619474, 9110174, 12963728, 14966270, 16387653	Standard	NM_022756		Approved	NY-SAR-91, FLJ11730, Eaf6, CENP-28	uc001cbe.2	Q9HAF1	OTTHUMG00000004223	ENST00000296214.5:c.238C>T	1.37:g.37975112G>A	ENSP00000296214:p.Arg80Trp		37747699	B1AK64|Q4F967|Q7Z311|Q86WE3	Missense_Mutation	SNP	ENST00000296214.5	37	CCDS59196.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517279	0.64634	.	.	ENSG00000163875	ENST00000373075;ENST00000296214;ENST00000373074;ENST00000373073;ENST00000448519	.	.	.	4.66	3.67	0.42095	.	0.126252	0.52532	D	0.000062	T	0.77471	0.4135	M	0.87900	2.915	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.75484	0.976;0.986;0.976;0.875	T	0.79167	-0.1915	9	0.72032	D	0.01	-2.725	6.6869	0.23150	0.0872:0.0:0.6103:0.3024	.	80;80;80;58	Q9HAF1-2;Q9HAF1;Q9HAF1-3;B1AK63	.;EAF6_HUMAN;.;.	W	80;80;58;80;80	.	ENSP00000296214:R80W	R	-	1	2	MEAF6	37747699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.072000	0.50049	2.304000	0.77564	0.484000	0.47621	CGG		0.473	MEAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012161.1	NM_022756		A	37975112	G	A	37975112	3	1	393	1	0	0	0	0	1	0	0	0	9421	1115	39	1	391	1	MEAF6	1	37975112	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	9875252	37975112	211275509	3	21407											
RPE65	6121	genome.wustl.edu	37	1	68896808	68896808	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr1:68896808C>G	ENST00000262340.5	-	13	1443	c.1390G>C	c.(1390-1392)Gat>Cat	p.D464H		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	464					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GGGTATGAATCAGGCTCTTGC	0.378																																																0			1											92	89	90					1																	68896808		2203	4300	6503	68669396	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1390G>C	1.37:g.68896808C>G	ENSP00000262340:p.Asp464His		68669396	A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388399	0.25118	.	.	ENSG00000116745	ENST00000262340	D	0.94862	-3.54	5.29	3.39	0.38822	.	0.179274	0.64402	D	0.000016	D	0.84880	0.5570	L	0.42529	1.33	0.58432	D	0.999995	B	0.18166	0.026	B	0.25506	0.061	T	0.79548	-0.1758	10	0.39692	T	0.17	-1.0419	6.5744	0.22557	0.1462:0.7058:0.0:0.148	.	464	Q16518	RPE65_HUMAN	H	464	ENSP00000262340:D464H	ENSP00000262340:D464H	D	-	1	0	RPE65	68669396	0.998000	0.40836	0.755000	0.31263	0.937000	0.57800	3.756000	0.55205	0.603000	0.29913	0.555000	0.69702	GAT		0.378	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		G	68896808	C	G	68896808	3	3	393	1	0	0	0	0	1	0	0	0	13548	826	29	3	219	3	RPE65	1	68896808	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	30921696	68896808	180353813	4	21408											
CHI3L2	1117	genome.wustl.edu	37	1	111773364	111773364	+	Splice_Site	SNP	G	G	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr1:111773364G>T	ENST00000445067.2	+	5	842	c.71G>T	c.(70-72)gGa>gTa	p.G24V	CHI3L2_ENST00000369744.2_Splice_Site_p.G14V|CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000524472.1_5'UTR|CHI3L2_ENST00000369748.4_Splice_Site_p.G24V			Q15782	CH3L2_HUMAN	chitinase 3-like 2	24					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TCTACTCCAGGATCTGCCTAC	0.488																																																0			1											72	67	69					1																	111773364		2203	4300	6503	111574887	SO:0001630	splice_region_variant	1117			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.71-1G>T	1.37:g.111773364G>T			111574887	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037740	0.54896	.	.	ENSG00000064886	ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000474304	T;T;T;T;T	0.14640	3.35;2.51;2.49;3.3;3.35	4.09	3.15	0.36227	.	0.186473	0.25909	N	0.027502	T	0.05456	0.0144	L	0.58969	1.84	0.80722	D	1	P;P	0.39480	0.675;0.553	B;B	0.31442	0.13;0.091	T	0.25606	-1.0127	9	.	.	.	.	11.3698	0.49694	0.0:0.1851:0.8149:0.0	.	14;24	A6NNY3;Q15782	.;CH3L2_HUMAN	V	24;24;24;14;24;24	ENSP00000437082:G24V;ENSP00000436077:G24V;ENSP00000431968:G24V;ENSP00000358759:G14V;ENSP00000358763:G24V	.	G	+	2	0	CHI3L2	111574887	0.881000	0.30235	0.546000	0.28166	0.794000	0.44872	1.085000	0.30840	0.858000	0.35431	0.655000	0.94253	GGA		0.488	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000	Missense_Mutation	T	111773364	G	T	111773364	5	4	393	1	0	0	0	0	0	0	1	0	3341	1188	41	3	81	3	CHI3L2	1	111773364	Splice_Site	SNP	G	TCGA-36-2544-01A-01D-1526-09	42876556	111773364	137477257	5	21409											
KPRP	448834	genome.wustl.edu	37	1	152733791	152733791	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr1:152733791G>A	ENST00000606109.1	+	1	1755	c.1727G>A	c.(1726-1728)aGt>aAt	p.S576N	KPRP_ENST00000368773.1_Missense_Mutation_p.S576N			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	576						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGCAAAGAGTGCTTATTTT	0.488																																																0			1											46	46	46					1																	152733791		2203	4300	6503	151000415	SO:0001583	missense	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1727G>A	1.37:g.152733791G>A	ENSP00000475216:p.Ser576Asn		151000415		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498802	0.44455	.	.	ENSG00000203786	ENST00000368773	T	0.14144	2.53	4.48	3.57	0.40892	.	0.738656	0.11760	N	0.532149	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	P	0.35982	0.531	B	0.35971	0.215	T	0.36311	-0.9753	10	0.52906	T	0.07	-0.6458	8.2289	0.31587	0.1089:0.0:0.8911:0.0	.	576	Q5T749	KPRP_HUMAN	N	576	ENSP00000357762:S576N	ENSP00000357762:S576N	S	+	2	0	KPRP	151000415	0.164000	0.22935	0.116000	0.21606	0.029000	0.11900	2.113000	0.41902	1.245000	0.43885	0.313000	0.20887	AGT		0.488	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152733791	G	A	152733791	3	1	393	1	0	0	0	0	1	0	0	0	8436	1029	36	2	1729	2	KPRP	1	152733791	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	40960427	152733791	96516830	6	21410											
MOSC1	64757	genome.wustl.edu	37	1	220971268	220971268	+	Missense_Mutation	SNP	C	C	T	rs145144301		TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr1:220971268C>T	ENST00000366910.5	+	4	851	c.665C>T	c.(664-666)gCg>gTg	p.A222V	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	222	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										GCGTCGCTGGCGGATCTCAAC	0.438																																																0			1						C	VAL/ALA	0,4406		0,0,2203	127	123	124		665	-0.8	0	1	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	missense	MOSC1	NM_022746.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	222/338	220971268	1,13005	2203	4300	6503	219037891	SO:0001583	missense	64757			AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"MOCO sulphurase C-terminal domain containing 1"	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.665C>T	1.37:g.220971268C>T	ENSP00000355877:p.Ala222Val		219037891	A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	C	3.303	-0.142556	0.06669	0.0	1.16E-4	ENSG00000186205	ENST00000366910;ENST00000443880	T;T	0.24350	1.86;1.86	4.82	-0.787	0.10943	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.572559	0.16223	N	0.223949	T	0.19287	0.0463	M	0.64997	1.995	0.09310	N	0.999998	B;B	0.17667	0.023;0.021	B;B	0.15484	0.013;0.013	T	0.21861	-1.0233	10	0.29301	T	0.29	-6.7738	2.7662	0.05321	0.4944:0.2545:0.1025:0.1487	.	222;222	Q5VT66-2;Q5VT66	.;MOSC1_HUMAN	V	222;35	ENSP00000355877:A222V;ENSP00000409634:A35V	ENSP00000355877:A222V	A	+	2	0	MOSC1	219037891	0.315000	0.24571	0.002000	0.10522	0.069000	0.16628	0.746000	0.26275	-0.365000	0.08076	-0.300000	0.09419	GCG		0.438	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		T	220971268	C	T	220971268	3	4	393	1	0	0	0	0	1	0	0	0	9713	768	27	1	679	1	MOSC1	1	220971268	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	68237477	220971268	28279353	7	21411											
ASXL2	55252	genome.wustl.edu	37	2	25972785	25972785	+	Missense_Mutation	SNP	T	T	C	rs200858310		TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr2:25972785T>C	ENST00000435504.4	-	12	1933	c.1640A>G	c.(1639-1641)cAg>cGg	p.Q547R	ASXL2_ENST00000404843.1_Missense_Mutation_p.Q287R|ASXL2_ENST00000336112.4_Missense_Mutation_p.Q519R|ASXL2_ENST00000272341.4_Missense_Mutation_p.Q287R			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	547					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTAGTCTCCTGTGGACCCGC	0.488													T|||	1	0.000199681	0	0	5008	,	,		18383	0		0.001	False		,,,				2504	0															0			2						T	ARG/GLN	0,3718		0,0,1859	106	102	103		1640	0.4	0.1	2		103	22,8156		0,22,4067	yes	missense	ASXL2	NM_018263.4	43	0,22,5926	CC,CT,TT		0.269,0.0,0.1849	possibly-damaging	547/1436	25972785	22,11874	1859	4089	5948	25826289	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1640A>G	2.37:g.25972785T>C	ENSP00000391447:p.Gln547Arg		25826289	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	T	2.626	-0.287513	0.05605	0.0	0.00269	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18502	2.21;2.21;2.25;2.25	6.01	0.398	0.16319	.	0.750686	0.12658	N	0.449866	T	0.11153	0.0272	L	0.51422	1.61	0.09310	N	0.999996	B;P	0.38335	0.007;0.627	B;B	0.35114	0.007;0.196	T	0.20974	-1.0259	10	0.17369	T	0.5	-1.0704	2.3487	0.04278	0.2372:0.0681:0.2328:0.4619	.	287;547	Q76L83-2;Q76L83	.;ASXL2_HUMAN	R	547;519;287;287	ENSP00000391447:Q547R;ENSP00000337250:Q519R;ENSP00000383920:Q287R;ENSP00000272341:Q287R	ENSP00000272341:Q287R	Q	-	2	0	ASXL2	25826289	0.989000	0.36119	0.058000	0.19502	0.007000	0.05969	1.200000	0.32247	0.116000	0.18110	-0.297000	0.09499	CAG		0.488	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		C	25972785	T	C	25972785	3	2	393	1	0	0	0	0	1	0	0	0	1067	1580	55	4	2675	4	ASXL2	2	25972785	Missense_Mutation	SNP	T	TCGA-36-2544-01A-01D-1526-09		25972785	217226588	8	21412											
KLRAQ1	129285	genome.wustl.edu	37	2	48701861	48701861	+	Silent	SNP	G	G	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr2:48701861G>C	ENST00000294952.8	+	12	1285	c.1128G>C	c.(1126-1128)gcG>gcC	p.A376A	PPP1R21_ENST00000449090.2_Silent_p.A376A|PPP1R21_ENST00000281394.4_Silent_p.A376A	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	376						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						GCACATCTGCGTTAAGAGCCA	0.413																																																0			2											145	131	136					2																	48701861		2203	4300	6503	48555365	SO:0001819	synonymous_variant	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1128G>C	2.37:g.48701861G>C			48555365	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	ENST00000294952.8	37	CCDS46278.1																																																																																				0.413	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		C	48701861	G	C	48701861	2	2	393	1	0	0	0	0	0	0	0	1	8413	1132	40	3		3	KLRAQ1	2	48701861	Silent	SNP	G	TCGA-36-2544-01A-01D-1526-09	22729076	48701861	194497512	9	21413											
ATP2B2	491	genome.wustl.edu	37	3	10442673	10442673	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr3:10442673G>T	ENST00000352432.4	-	4	814	c.745C>A	c.(745-747)Cgc>Agc	p.R249S	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R249S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R249S|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R249S|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R249S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	249					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACGGACTTGCGCACCTGGTCA	0.597																																					Ovarian(125;1619 1709 15675 19819 38835)											0			3											145	119	128					3																	10442673		2203	4300	6503	10417673	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.745C>A	3.37:g.10442673G>T	ENSP00000324172:p.Arg249Ser		10417673	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880587	0.72294	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.055309	0.64402	D	0.000002	D	0.85225	0.5648	N	0.21448	0.665	0.58432	D	0.999998	P;B;B	0.37955	0.612;0.034;0.189	B;B;B	0.39971	0.287;0.12;0.315	D	0.85774	0.1357	10	0.54805	T	0.06	-20.274	19.6187	0.95647	0.0:0.0:1.0:0.0	.	249;261;249	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	S	249;249;249;249;249;215;136;249	ENSP00000324172:R249S;ENSP00000373311:R249S;ENSP00000380267:R249S;ENSP00000353414:R249S;ENSP00000344677:R249S;ENSP00000414854:R136S	ENSP00000342954:R249S	R	-	1	0	ATP2B2	10417673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.555000	0.53727	2.627000	0.88993	0.650000	0.86243	CGC		0.597	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		T	10442673	G	T	10442673	3	4	393	1	0	0	0	0	1	0	0	0	1140	1087	38	3	3062	3	ATP2B2	3	10442673	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09		10442673	187579757	10	21414											
LARS2	23395	genome.wustl.edu	37	3	45559524	45559524	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr3:45559524C>T	ENST00000415258.1	+	17	2315	c.2174C>T	c.(2173-2175)gCc>gTc	p.A725V	LARS2_ENST00000414984.1_Missense_Mutation_p.A682V|LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000265537.3_Missense_Mutation_p.A725V			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	725					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AAAGCTGAGGCCAGGAAGCTC	0.512																																																0			3											55	51	53					3																	45559524		2203	4300	6503	45534528	SO:0001583	missense	23395			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2174C>T	3.37:g.45559524C>T	ENSP00000408576:p.Ala725Val		45534528		Missense_Mutation	SNP	ENST00000415258.1	37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183941	0.57800	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.30714	1.52;1.52;1.52	5.66	2.89	0.33648	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.170070	0.51477	D	0.000098	T	0.37404	0.1002	M	0.65975	2.015	0.58432	D	0.999995	P;P	0.38745	0.645;0.645	P;P	0.44477	0.451;0.451	T	0.23904	-1.0175	10	0.59425	D	0.04	-12.2462	10.7379	0.46137	0.0:0.6696:0.2628:0.0676	.	682;725	E9PHM2;Q15031	.;SYLM_HUMAN	V	725;725;682	ENSP00000265537:A725V;ENSP00000408576:A725V;ENSP00000412893:A682V	ENSP00000265537:A725V	A	+	2	0	LARS2	45534528	1.000000	0.71417	0.333000	0.25482	0.944000	0.59088	2.935000	0.48963	0.732000	0.32470	0.655000	0.94253	GCC		0.512	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		T	45559524	C	T	45559524	3	4	393	1	0	0	0	0	1	0	0	0	8635	739	26	2	2236	2	LARS2	3	45559524	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	35116851	45559524	152462906	11	21415											
PLCH1	23007	genome.wustl.edu	37	3	155267709	155267709	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr3:155267709A>T	ENST00000340059.7	-	9	1192	c.1193T>A	c.(1192-1194)aTc>aAc	p.I398N	PLCH1_ENST00000494598.1_Missense_Mutation_p.I398N|PLCH1_ENST00000414191.1_Missense_Mutation_p.I380N|PLCH1_ENST00000447496.2_Missense_Mutation_p.I398N|PLCH1_ENST00000334686.6_Missense_Mutation_p.I380N|PLCH1_ENST00000460012.1_Missense_Mutation_p.I380N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	398	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGCTGCTGGATACTGCAGTG	0.473																																																0			3											99	92	95					3																	155267709		2203	4300	6503	156750403	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1193T>A	3.37:g.155267709A>T	ENSP00000345988:p.Ile398Asn		156750403	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865882	0.91511	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.68	5.68	0.88126	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.391760	0.29799	N	0.011173	T	0.69006	0.3063	M	0.68317	2.08	0.53688	D	0.999976	P;D;P	0.56746	0.93;0.977;0.93	P;P;P	0.62089	0.837;0.898;0.771	T	0.71731	-0.4504	10	0.62326	D	0.03	.	15.9286	0.79644	1.0:0.0:0.0:0.0	.	380;398;398	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	398;380;398;398;380;380	ENSP00000419100:I398N;ENSP00000417502:I380N;ENSP00000402759:I398N;ENSP00000345988:I398N;ENSP00000335469:I380N;ENSP00000412977:I380N	ENSP00000335469:I380N	I	-	2	0	PLCH1	156750403	1.000000	0.71417	0.885000	0.34714	0.952000	0.60782	8.827000	0.92041	2.151000	0.67156	0.533000	0.62120	ATC		0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		T	155267709	A	T	155267709	3	4	393	1	0	0	0	0	1	0	0	0	12037	333	12	5	3963	5	PLCH1	3	155267709	Missense_Mutation	SNP	A	TCGA-36-2544-01A-01D-1526-09	109708185	155267709	42754721	12	21416											
TLR6	10333	genome.wustl.edu	37	4	38828762	38828762	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr4:38828762C>G	ENST00000381950.1	-	1	2398	c.2333G>C	c.(2332-2334)aGa>aCa	p.R778T	TLR6_ENST00000436693.2_Missense_Mutation_p.R778T			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	778	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAAGCGGCTCTAATGTTAGC	0.383																																																0			4											61	63	62					4																	38828762		2203	4300	6503	38505157	SO:0001583	missense	10333				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.2333G>C	4.37:g.38828762C>G	ENSP00000371376:p.Arg778Thr		38505157	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860269	0.51482	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	D;D	0.87256	-2.23;-2.23	4.94	3.17	0.36434	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.138332	0.49916	N	0.000131	D	0.93887	0.8044	M	0.92738	3.34	0.54753	D	0.999987	D	0.76494	0.999	D	0.78314	0.991	D	0.93270	0.6651	10	0.87932	D	0	.	9.5575	0.39348	0.0:0.7776:0.1439:0.0785	.	778	Q9Y2C9	TLR6_HUMAN	T	778;778;462	ENSP00000389600:R778T;ENSP00000371376:R778T	ENSP00000371376:R778T	R	-	2	0	TLR6	38505157	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	2.078000	0.41567	0.638000	0.30545	0.561000	0.74099	AGA		0.383	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			G	38828762	C	G	38828762	3	3	393	1	0	0	0	0	1	0	0	0	15955	913	32	3	61	3	TLR6	4	38828762	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		38828762	152325514	13	21417											
BANK1	55024	genome.wustl.edu	37	4	102783720	102783720	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr4:102783720T>C	ENST00000322953.4	+	4	936	c.662T>C	c.(661-663)gTa>gCa	p.V221A	BANK1_ENST00000428908.1_Missense_Mutation_p.V88A|BANK1_ENST00000504592.1_Missense_Mutation_p.V206A|BANK1_ENST00000508653.1_Missense_Mutation_p.V88A|BANK1_ENST00000444316.2_Missense_Mutation_p.V191A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	221	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGAGATGAAGTAATTGGTGAT	0.348																																																0			4											71	73	73					4																	102783720		2203	4298	6501	103002743	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.662T>C	4.37:g.102783720T>C	ENSP00000320509:p.Val221Ala		103002743	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917984	0.52546	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.19394	2.85;2.84;2.15;2.15;2.85	4.84	4.84	0.62591	DBB domain (1);	0.483471	0.18355	N	0.143752	T	0.20333	0.0489	L	0.38175	1.15	0.25690	N	0.985698	P;P;P	0.50156	0.932;0.571;0.571	B;B;B	0.43445	0.42;0.21;0.21	T	0.08868	-1.0701	10	0.72032	D	0.01	.	12.4739	0.55801	0.0:0.0:0.0:1.0	.	88;221;206	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	A	206;221;88;88;191	ENSP00000421443:V206A;ENSP00000320509:V221A;ENSP00000412748:V88A;ENSP00000422314:V88A;ENSP00000388817:V191A	ENSP00000320509:V221A	V	+	2	0	BANK1	103002743	1.000000	0.71417	0.987000	0.45799	0.953000	0.61014	5.015000	0.64035	1.925000	0.55765	0.477000	0.44152	GTA		0.348	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		C	102783720	T	C	102783720	3	2	393	1	0	0	0	0	1	0	0	0	1309	1638	57	4	676	4	BANK1	4	102783720	Missense_Mutation	SNP	T	TCGA-36-2544-01A-01D-1526-09	63954958	102783720	88370556	14	21418											
TCERG1	10915	genome.wustl.edu	37	5	145872522	145872522	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr5:145872522C>T	ENST00000296702.5	+	15	2190	c.2152C>T	c.(2152-2154)Cgc>Tgc	p.R718C	TCERG1_ENST00000394421.2_Missense_Mutation_p.R697C	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	718					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGGAAGAACGCAGGGAAAA	0.313																																																0			5											63	66	65					5																	145872522		2203	4295	6498	145852715	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2152C>T	5.37:g.145872522C>T	ENSP00000296702:p.Arg718Cys		145852715	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510518	0.85389	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.33654	1.4;1.4	5.51	5.51	0.81932	FF domain (2);	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.983	T	0.72673	-0.4222	10	0.87932	D	0	-5.8594	19.7945	0.96474	0.0:1.0:0.0:0.0	.	697;718	O14776-2;O14776	.;TCRG1_HUMAN	C	718;697	ENSP00000296702:R718C;ENSP00000377943:R697C	ENSP00000296702:R718C	R	+	1	0	TCERG1	145852715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.061000	0.71148	2.746000	0.94184	0.591000	0.81541	CGC		0.313	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		T	145872522	C	T	145872522	3	4	393	1	0	0	0	0	1	0	0	0	15685	536	19	1	2210	1	TCERG1	5	145872522	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		145872522	35042738	15	21419											
PPARGC1B	133522	genome.wustl.edu	37	5	149212411	149212411	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr5:149212411C>A	ENST00000309241.5	+	5	807	c.775C>A	c.(775-777)Cca>Aca	p.P259T	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P195T|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P220T|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P259T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	259					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAGCCCCCAGCCAGCTCCAGC	0.682																																																0			5											30	39	36					5																	149212411		2202	4298	6500	149192604	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.775C>A	5.37:g.149212411C>A	ENSP00000312649:p.Pro259Thr		149192604	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	9.564	1.119270	0.20877	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.08370	3.11;3.1;3.1;3.11	5.23	3.45	0.39498	.	0.749694	0.12778	N	0.439931	T	0.06962	0.0177	L	0.44542	1.39	0.22982	N	0.998479	B;P;B;B;B	0.34724	0.328;0.465;0.328;0.22;0.169	B;B;B;B;B	0.28011	0.085;0.085;0.085;0.039;0.079	T	0.33137	-0.9880	10	0.36615	T	0.2	-1.3903	6.4035	0.21652	0.1155:0.5084:0.3053:0.0709	.	238;238;220;259;259	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	T	220;259;259;195	ENSP00000353638:P220T;ENSP00000377855:P259T;ENSP00000312649:P259T;ENSP00000384403:P195T	ENSP00000312649:P259T	P	+	1	0	PPARGC1B	149192604	0.036000	0.19791	0.316000	0.25252	0.967000	0.64934	0.408000	0.21065	0.773000	0.33404	0.655000	0.94253	CCA		0.682	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		A	149212411	C	A	149212411	3	1	393	1	0	0	0	0	1	0	0	0	12301	739	26	3	800	3	PPARGC1B	5	149212411	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	3339889	149212411	31702849	16	21420											
MDC1	9656	genome.wustl.edu	37	6	30680632	30680632	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr6:30680632C>G	ENST00000376406.3	-	5	1734	c.1087G>C	c.(1087-1089)Gca>Cca	p.A363P	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A363P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	363	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGGCCTGGTGCTCCAGGACCC	0.557								Other conserved DNA damage response genes																																								0			6											93	105	101					6																	30680632		1510	2709	4219	30788611	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1087G>C	6.37:g.30680632C>G	ENSP00000365588:p.Ala363Pro		30788611	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761560	0.49468	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.04809	3.66;3.55	3.79	1.04	0.20106	.	.	.	.	.	T	0.04952	0.0133	L	0.56769	1.78	0.09310	N	1	D;P;D;P	0.71674	0.994;0.95;0.998;0.899	P;P;P;P	0.59115	0.829;0.735;0.852;0.466	T	0.28038	-1.0056	9	0.72032	D	0.01	-0.7784	5.9717	0.19357	0.0:0.668:0.0:0.332	.	363;235;363;363	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	P	363;363;363;235	ENSP00000365588:A363P;ENSP00000365587:A363P	ENSP00000365587:A363P	A	-	1	0	MDC1	30788611	0.000000	0.05858	0.001000	0.08648	0.849000	0.48306	-0.671000	0.05250	0.212000	0.20703	0.561000	0.74099	GCA		0.557	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		G	30680632	C	G	30680632	3	3	393	1	0	0	0	0	1	0	0	0	9403	797	28	3	5226	3	MDC1	6	30680632	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		30680632	140434435	17	21421											
ABCC10	89845	genome.wustl.edu	37	6	43400295	43400295	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr6:43400295G>C	ENST00000372530.4	+	3	792	c.577G>C	c.(577-579)Ggg>Cgg	p.G193R	ABCC10_ENST00000244533.3_Missense_Mutation_p.G150R|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	193					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCAGCTCCTGGGGGACCACG	0.622																																																0			6											67	69	69					6																	43400295		2202	4300	6502	43508273	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.577G>C	6.37:g.43400295G>C	ENSP00000361608:p.Gly193Arg		43508273	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	3.454	-0.111457	0.06881	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.39592	1.07;1.07	5.76	1.97	0.26223	.	0.419207	0.28262	N	0.015991	T	0.08403	0.0209	L	0.27053	0.805	0.09310	N	1	B;B	0.25390	0.047;0.125	B;B	0.24848	0.039;0.056	T	0.33752	-0.9856	10	0.15066	T	0.55	-18.2958	4.287	0.10860	0.2254:0.0:0.5054:0.2692	.	150;193	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	R	193;150	ENSP00000361608:G193R;ENSP00000244533:G150R	ENSP00000244533:G150R	G	+	1	0	ABCC10	43508273	0.996000	0.38824	0.100000	0.21137	0.114000	0.19823	-0.232000	0.09055	0.361000	0.24292	-0.314000	0.08810	GGG		0.622	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		C	43400295	G	C	43400295	3	2	393	1	0	0	0	0	1	0	0	0	50	1348	47	3	450	3	ABCC10	6	43400295	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	12719663	43400295	127714772	18	21422											
KCNQ5	56479	genome.wustl.edu	37	6	73843315	73843315	+	Silent	SNP	C	C	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr6:73843315C>T	ENST00000370398.1	+	10	1528	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	KCNQ5_ENST00000342056.2_Silent_p.F492F|KCNQ5_ENST00000403813.2_Silent_p.F464F|KCNQ5_ENST00000355194.4_Silent_p.F473F|KCNQ5_ENST00000402622.2_Silent_p.F483F|KCNQ5-AS1_ENST00000429832.1_RNA|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355635.3_Silent_p.F474F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	473					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAACCCGCTTCCGGCCCTCGC	0.527																																					GBM(142;1375 1859 14391 23261 44706)											0			6											78	79	79					6																	73843315		2203	4300	6503	73900036	SO:0001819	synonymous_variant	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1419C>T	6.37:g.73843315C>T			73900036	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081646	0.20309	.	.	ENSG00000185760	ENST00000427928	.	.	.	5.59	4.71	0.59529	.	.	.	.	.	T	0.54919	0.1888	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51702	-0.8672	4	.	.	.	.	12.5499	0.56222	0.0:0.9231:0.0:0.0769	.	.	.	.	S	65	.	.	P	+	1	0	KCNQ5	73900036	0.996000	0.38824	1.000000	0.80357	0.970000	0.65996	0.658000	0.24979	2.797000	0.96272	0.563000	0.77884	CCG		0.527	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		T	73843315	C	T	73843315	2	4	393	1	0	0	0	0	0	0	0	1	8086	854	30	2		2	KCNQ5	6	73843315	Silent	SNP	C	TCGA-36-2544-01A-01D-1526-09	30443020	73843315	97271752	19	21423											
FAM120B	84498	genome.wustl.edu	37	6	170626612	170626612	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr6:170626612C>A	ENST00000476287.1	+	2	242	c.134C>A	c.(133-135)gCc>gAc	p.A45D	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.A68D|FAM120B_ENST00000540480.1_Missense_Mutation_p.A57D	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	45					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A45V(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTGGTTGATGCCATGTGTTGT	0.433																																																1	Substitution - Missense(1)	endometrium(1)	6											192	178	183					6																	170626612		2203	4300	6503	170468537	SO:0001583	missense	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.134C>A	6.37:g.170626612C>A	ENSP00000417970:p.Ala45Asp		170468537	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461897	0.84425	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.57107	0.42;0.42;0.42	5.98	5.98	0.97165	.	0.054789	0.64402	D	0.000001	T	0.67933	0.2946	M	0.62723	1.935	0.80722	D	1	D;P	0.89917	1.0;0.824	D;P	0.79108	0.992;0.573	T	0.68337	-0.5435	10	0.87932	D	0	-28.806	20.4434	0.99119	0.0:1.0:0.0:0.0	.	45;45	Q96EK7;F2Z2E1	F120B_HUMAN;.	D	57;68;45	ENSP00000444125:A57D;ENSP00000440125:A68D;ENSP00000417970:A45D	ENSP00000436640:A45D	A	+	2	0	FAM120B	170468537	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.222000	0.58580	2.838000	0.97847	0.655000	0.94253	GCC		0.433	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		A	170626612	C	A	170626612	3	1	393	1	0	0	0	0	1	0	0	0	5417	739	26	3	136	3	FAM120B	6	170626612	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	96783297	170626612	488455	20	21424											
INHBA	3624	genome.wustl.edu	37	7	41729641	41729641	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr7:41729641C>A	ENST00000242208.4	-	3	1134	c.888G>T	c.(886-888)caG>caT	p.Q296H	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.Q296H|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	296					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTGCCGGGCCTGCAGCATGA	0.567										TSP Lung(11;0.080)																																						0			7											90	91	91					7																	41729641		2203	4300	6503	41696166	SO:0001583	missense	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.888G>T	7.37:g.41729641C>A	ENSP00000242208:p.Gln296His		41696166	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	9.223	1.033828	0.19590	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.78816	-1.21;-1.21	5.82	4.0	0.46444	.	0.267746	0.36628	N	0.002486	T	0.71022	0.3291	N	0.25332	0.735	0.33589	D	0.600865	P	0.48911	0.917	P	0.56343	0.796	T	0.71500	-0.4574	10	0.15499	T	0.54	-26.1711	5.12	0.14856	0.2511:0.5333:0.0:0.2156	.	296	P08476	INHBA_HUMAN	H	296	ENSP00000242208:Q296H;ENSP00000397197:Q296H	ENSP00000242208:Q296H	Q	-	3	2	INHBA	41696166	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.606000	0.36826	1.467000	0.48044	0.484000	0.47621	CAG		0.567	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			A	41729641	C	A	41729641	3	1	393	1	0	0	0	0	1	0	0	0	7741	680	24	3	396	3	INHBA	7	41729641	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		41729641	117409022	21	21425											
SAMD9L	219285	genome.wustl.edu	37	7	92765038	92765038	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr7:92765038C>G	ENST00000318238.4	-	5	1463	c.247G>C	c.(247-249)Gac>Cac	p.D83H	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D83H|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D83H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	83					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATGATTGTCACTTTCAGGG	0.378																																																0			7											129	142	138					7																	92765038		2203	4300	6503	92602974	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.247G>C	7.37:g.92765038C>G	ENSP00000326247:p.Asp83His		92602974	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235932	0.22626	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.16196	2.36;2.36;2.36	4.68	-2.72	0.05968	.	1.190630	0.06269	N	0.695303	T	0.04452	0.0122	N	0.00926	-1.1	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.001	T	0.32929	-0.9888	10	0.33940	T	0.23	-0.2148	1.9631	0.03390	0.1694:0.2269:0.3919:0.2118	.	83;83	Q8IVG5-2;Q8IVG5	.;SAM9L_HUMAN	H	83	ENSP00000326247:D83H;ENSP00000405760:D83H;ENSP00000408796:D83H	ENSP00000326247:D83H	D	-	1	0	SAMD9L	92602974	0.000000	0.05858	0.002000	0.10522	0.132000	0.20833	-1.867000	0.01646	-0.424000	0.07382	0.460000	0.39030	GAC		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		G	92765038	C	G	92765038	3	3	393	1	0	0	0	0	1	0	0	0	13830	826	29	3	4511	3	SAMD9L	7	92765038	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	51035397	92765038	66373625	22	21426											
MUC17	140453	genome.wustl.edu	37	7	100684246	100684246	+	Silent	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr7:100684246C>A	ENST00000306151.4	+	3	9613	c.9549C>A	c.(9547-9549)acC>acA	p.T3183T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3183	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGATAGCACCCTTTCAGCAA	0.483																																																0			7											297	298	297					7																	100684246		2203	4300	6503	100470966	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9549C>A	7.37:g.100684246C>A			100470966	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684246	C	A	100684246	2	1	393	1	0	0	0	0	0	0	0	1	9974	610	22	3		3	MUC17	7	100684246	Silent	SNP	C	TCGA-36-2544-01A-01D-1526-09	7919208	100684246	58454417	23	21427											
FASTK	10922	genome.wustl.edu	37	7	150774420	150774420	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr7:150774420G>C	ENST00000297532.6	-	7	1345	c.1268C>G	c.(1267-1269)aCt>aGt	p.T423S	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.T396S|FASTK_ENST00000353841.2_Missense_Mutation_p.T282S|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	423					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TGGAGGCACAGTCAGGTCCTG	0.647																																																0			7											47	53	51					7																	150774420		2203	4300	6503	150405353	SO:0001583	missense	10922				CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1268C>G	7.37:g.150774420G>C	ENSP00000297532:p.Thr423Ser		150405353	A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524760	0.64747	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.44482	0.92;0.92;0.92	4.29	4.29	0.51040	FAST kinase-like protein, subdomain 2 (1);	0.164390	0.41500	D	0.000861	T	0.36524	0.0970	N	0.08118	0	0.80722	D	1	D;P;P	0.63880	0.993;0.789;0.789	P;P;P	0.56042	0.79;0.504;0.608	T	0.21965	-1.0230	10	0.33141	T	0.24	-17.702	15.0725	0.72049	0.0:0.0:1.0:0.0	.	396;282;423	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	S	423;423;282;423;396	ENSP00000324817:T282S;ENSP00000297532:T423S;ENSP00000418516:T396S	ENSP00000297530:T423S	T	-	2	0	FASTK	150405353	0.999000	0.42202	0.984000	0.44739	0.977000	0.68977	3.666000	0.54540	2.676000	0.91093	0.655000	0.94253	ACT		0.647	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		C	150774420	G	C	150774420	3	2	393	1	0	0	0	0	1	0	0	0	5684	1029	36	3	397	3	FASTK	7	150774420	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	50090174	150774420	8364243	24	21428											
MLL3	58508	genome.wustl.edu	37	7	151848574	151848574	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr7:151848574C>G	ENST00000262189.6	-	50	12837	c.12619G>C	c.(12619-12621)Gga>Cga	p.G4207R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G4264R|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4207					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACACCACTTCCAAGAATAACC	0.443																																																0			7											106	89	95					7																	151848574		2203	4300	6503	151479507	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12619G>C	7.37:g.151848574C>G	ENSP00000262189:p.Gly4207Arg		151479507	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.535075|3.535075	0.64972|0.64972	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.88896|.	-1.84;-1.79;-2.44|.	5.25|5.25	4.36|4.36	0.52297|0.52297	.|.	0.000000|.	0.44097|.	U|.	0.000489|.	T|T	0.73265|0.73265	0.3565|0.3565	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;P;P|.	0.89917|.	1.0;0.736;0.736|.	D;B;B|.	0.91635|.	0.999;0.275;0.275|.	T|T	0.73751|0.73751	-0.3884|-0.3884	10|5	0.54805|.	T|.	0.06|.	.|.	15.8846|15.8846	0.79238|0.79238	0.0:0.8642:0.1358:0.0|0.0:0.8642:0.1358:0.0	.|.	4207;3325;4264|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	R|S	4207;4264;824|1767	ENSP00000262189:G4207R;ENSP00000347325:G4264R;ENSP00000410411:G824R|.	ENSP00000262189:G4207R|.	G|W	-|-	1|2	0|0	MLL3|MLL3	151479507|151479507	1.000000|1.000000	0.71417|0.71417	0.785000|0.785000	0.31869|0.31869	0.996000|0.996000	0.88848|0.88848	7.294000|7.294000	0.78760|0.78760	1.187000|1.187000	0.43000|0.43000	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151848574	C	G	151848574	3	3	393	1	0	0	0	0	1	0	0	0	9622	603	21	3	2156	3	MLL3	7	151848574	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	1074154	151848574	7290089	25	21429											
DDHD2	23259	genome.wustl.edu	37	8	38095663	38095663	+	Silent	SNP	G	G	T	rs149994413	byFrequency	TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr8:38095663G>T	ENST00000397166.2	+	5	1083	c.558G>T	c.(556-558)acG>acT	p.T186T	DDHD2_ENST00000520272.2_Silent_p.T186T	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	186			T -> M (in dbSNP:rs2306899). {ECO:0000269|PubMed:9872452}.		cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CAACACCCACGGAGCAGGGTC	0.408																																																0			8											213	193	200					8																	38095663		2203	4300	6503	38214820	SO:0001819	synonymous_variant	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.558G>T	8.37:g.38095663G>T			38214820	B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	CCDS34883.1																																																																																				0.408	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		T	38095663	G	T	38095663	2	4	393	1	0	0	0	0	0	0	0	1	4327	1103	39	3		3	DDHD2	8	38095663	Silent	SNP	G	TCGA-36-2544-01A-01D-1526-09		38095663	108268359	26	21430											
USP54	159195	genome.wustl.edu	37	10	75277097	75277097	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr10:75277097C>G	ENST00000339859.4	-	19	3187	c.3087G>C	c.(3085-3087)aaG>aaC	p.K1029N	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.K211N|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.K1029N|USP54_ENST00000428547.1_Missense_Mutation_p.K879N|USP54_ENST00000394811.2_Missense_Mutation_p.K117N|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1029					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CAGGATCCTTCTTTTCTTGGA	0.522																																					Colon(195;880 2046 8854 25025 38456)											0			10											115	119	118					10																	75277097		2203	4300	6503	74947103	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3087G>C	10.37:g.75277097C>G	ENSP00000345216:p.Lys1029Asn		74947103	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410672	0.25465	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.34072	1.75;1.75;1.74;1.38;1.68	6.03	0.382	0.16234	.	.	.	.	.	T	0.43919	0.1269	L	0.43152	1.355	0.29263	N	0.871221	D;D	0.63046	0.992;0.986	P;P	0.62298	0.9;0.617	T	0.38200	-0.9672	9	0.72032	D	0.01	-2.0327	7.4661	0.27322	0.0:0.5568:0.1131:0.3301	.	211;1029	E7EW90;Q70EL1	.;UBP54_HUMAN	N	1029;1029;879;117;211	ENSP00000345216:K1029N;ENSP00000386080:K1029N;ENSP00000408714:K879N;ENSP00000378290:K117N;ENSP00000407368:K211N	ENSP00000345216:K1029N	K	-	3	2	USP54	74947103	0.887000	0.30362	0.614000	0.29051	0.403000	0.30841	0.549000	0.23329	0.146000	0.19002	-0.122000	0.15005	AAG		0.522	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		G	75277097	C	G	75277097	3	3	393	1	0	0	0	0	1	0	0	0	17085	912	32	3	1987	3	USP54	10	75277097	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		75277097	60257650	27	21431											
HPS1	3257	genome.wustl.edu	37	10	100189400	100189400	+	Splice_Site	SNP	C	C	T	rs532348840		TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr10:100189400C>T	ENST00000325103.6	-	10	1101		c.e10-1		HPS1_ENST00000467246.1_Splice_Site|HPS1_ENST00000361490.4_Splice_Site|MIR4685_ENST00000578185.1_RNA|HPS1_ENST00000338546.5_Splice_Site	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1						blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGTCTGTCTCCTGGAATGGAG	0.602									Hermansky-Pudlak syndrome																																							0			10											71	76	74					10																	100189400		2203	4300	6503	100179390	SO:0001630	splice_region_variant	3257	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.868-1G>A	10.37:g.100189400C>T			100179390	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Splice_Site	SNP	ENST00000325103.6	37	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264151	0.59431	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632;ENST00000338546;ENST00000414009	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1217	0.89573	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HPS1	100179390	1.000000	0.71417	0.998000	0.56505	0.695000	0.40330	3.848000	0.55903	2.366000	0.80165	0.561000	0.74099	.		0.602	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639	Intron	T	100189400	C	T	100189400	5	4	393	1	0	0	0	0	0	0	1	0	7339	695	24	2	1317	2	HPS1	10	100189400	Splice_Site	SNP	C	TCGA-36-2544-01A-01D-1526-09	24912303	100189400	35345347	28	21432											
MYOD1	4654	genome.wustl.edu	37	11	17742511	17742511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr11:17742511C>A	ENST00000250003.3	+	2	908	c.693C>A	c.(691-693)taC>taA	p.Y231*		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	231					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GCGCCTACTACAACGAGGCGC	0.677																																																0			11											13	17	16					11																	17742511		2194	4282	6476	17699087	SO:0001587	stop_gained	4654			AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"Basic helix-loop-helix proteins"	7611	protein-coding gene	gene with protein product	"myoblast determination protein 1"	159970	"myogenic factor 3"	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.693C>A	11.37:g.17742511C>A	ENSP00000250003:p.Tyr231*		17699087	O75321	Nonsense_Mutation	SNP	ENST00000250003.3	37	CCDS7826.1	.	.	.	.	.	.	.	.	.	.	C	39	7.469841	0.98302	.	.	ENSG00000129152	ENST00000250003	.	.	.	4.57	4.57	0.56435	.	0.183525	0.49305	D	0.000155	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.4745	14.6818	0.69023	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000250003:Y231X	Y	+	3	2	MYOD1	17699087	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.214000	0.51161	2.374000	0.81015	0.643000	0.83706	TAC		0.677	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		A	17742511	C	A	17742511	4	1	393	1	0	0	0	0	0	1	0	0	10088	489	17	3	699	3	MYOD1	11	17742511	Nonsense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		17742511	117264005	29	21433											
OR5AK2	390181	genome.wustl.edu	37	11	56756895	56756895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr11:56756895C>A	ENST00000326855.2	+	1	549	c.507C>A	c.(505-507)tgC>tgA	p.C169*		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGTCCTTCTGCAAGTCCAATA	0.423																																																0			11											324	290	301					11																	56756895		2201	4296	6497	56513471	SO:0001587	stop_gained	390181			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.507C>A	11.37:g.56756895C>A	ENSP00000322784:p.Cys169*		56513471	B2RNZ9	Nonsense_Mutation	SNP	ENST00000326855.2	37	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	6.563	0.472163	0.12461	.	.	ENSG00000181273	ENST00000326855	.	.	.	3.85	0.396	0.16309	.	0.000000	0.44285	D	0.000472	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4208	4.1226	0.10112	0.0:0.4367:0.1783:0.3851	.	.	.	.	X	169	.	ENSP00000322784:C169X	C	+	3	2	OR5AK2	56513471	0.003000	0.15002	0.086000	0.20670	0.013000	0.08279	-0.002000	0.12924	0.256000	0.21614	0.194000	0.17425	TGC		0.423	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		A	56756895	C	A	56756895	4	1	393	1	0	0	0	0	0	1	0	0	11142	718	25	3	509	3	OR5AK2	11	56756895	Nonsense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	39014384	56756895	78249621	30	21434											
P2RX3	5024	genome.wustl.edu	37	11	57135859	57135859	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr11:57135859C>A	ENST00000263314.2	+	10	985	c.951C>A	c.(949-951)aaC>aaA	p.N317K		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	317					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCAAGTTCAACATCATCCCCA	0.627																																																0			11											233	186	202					11																	57135859		2201	4296	6497	56892435	SO:0001583	missense	5024			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.951C>A	11.37:g.57135859C>A	ENSP00000263314:p.Asn317Lys		56892435	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210922	0.79240	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04360	3.64	5.78	3.91	0.45181	.	0.193359	0.56097	D	0.000039	T	0.13114	0.0318	M	0.64567	1.98	0.47009	D	0.999281	D	0.53462	0.96	P	0.57244	0.816	T	0.00670	-1.1617	10	0.51188	T	0.08	-40.7987	10.1319	0.42685	0.0:0.8424:0.0:0.1575	.	317	P56373	P2RX3_HUMAN	K	316;317	ENSP00000263314:N317K	ENSP00000263314:N317K	N	+	3	2	P2RX3	56892435	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.592000	0.46171	0.908000	0.36671	-0.136000	0.14681	AAC		0.627	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		A	57135859	C	A	57135859	3	1	393	1	0	0	0	0	1	0	0	0	11341	477	17	3	989	3	P2RX3	11	57135859	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	378964	57135859	77870657	31	21435											
AHNAK	79026	genome.wustl.edu	37	11	62297752	62297752	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr11:62297752G>T	ENST00000378024.4	-	5	4411	c.4137C>A	c.(4135-4137)caC>caA	p.H1379Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1379					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATCTTCAGGTGCCAATCTG	0.502																																																0			11											256	260	259					11																	62297752		2202	4299	6501	62054328	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4137C>A	11.37:g.62297752G>T	ENSP00000367263:p.His1379Gln		62054328	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	9.185	1.024497	0.19433	.	.	ENSG00000124942	ENST00000378024	T	0.00873	5.59	4.64	4.64	0.57946	.	.	.	.	.	T	0.01592	0.0051	M	0.77313	2.365	0.22156	N	0.999329	P	0.37276	0.589	B	0.33454	0.164	T	0.44498	-0.9324	9	0.15499	T	0.54	.	10.9118	0.47114	0.0:0.0:0.6747:0.3252	.	1379	Q09666	AHNK_HUMAN	Q	1379	ENSP00000367263:H1379Q	ENSP00000367263:H1379Q	H	-	3	2	AHNAK	62054328	0.045000	0.20229	1.000000	0.80357	0.782000	0.44232	0.051000	0.14141	2.135000	0.66039	0.550000	0.68814	CAC		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62297752	G	T	62297752	3	4	393	1	0	0	0	0	1	0	0	0	414	1252	44	3	13655	3	AHNAK	11	62297752	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	5161893	62297752	72708764	32	21436											
EXPH5	23086	genome.wustl.edu	37	11	108383766	108383766	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr11:108383766G>C	ENST00000265843.4	-	6	2578	c.2468C>G	c.(2467-2469)cCc>cGc	p.P823R	EXPH5_ENST00000443411.1_Missense_Mutation_p.P635R|EXPH5_ENST00000428840.1_Missense_Mutation_p.P747R|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.P816R	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	823					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTCTGTCCTGGGGAAAGATGG	0.383																																																0			11											126	131	129					11																	108383766		2201	4298	6499	107888976	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2468C>G	11.37:g.108383766G>C	ENSP00000265843:p.Pro823Arg		107888976	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886313	0.51908	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.19669	2.68;2.57;2.44;2.68;2.37;2.13	5.74	1.54	0.23209	.	0.394740	0.24759	N	0.035840	T	0.36138	0.0956	M	0.66939	2.045	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.11616	-1.0580	10	0.87932	D	0	-0.3098	5.0401	0.14454	0.2429:0.0:0.6143:0.1428	.	823	Q8NEV8	EXPH5_HUMAN	R	823;747;635;816;747;635	ENSP00000265843:P823R;ENSP00000391966:P747R;ENSP00000411390:P635R;ENSP00000432546:P816R;ENSP00000432683:P747R;ENSP00000446434:P635R	ENSP00000265843:P823R	P	-	2	0	EXPH5	107888976	0.008000	0.16893	0.077000	0.20336	0.894000	0.52154	0.193000	0.17116	0.092000	0.17331	0.563000	0.77884	CCC		0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		C	108383766	G	C	108383766	3	2	393	1	0	0	0	0	1	0	0	0	5322	1232	43	3	3505	3	EXPH5	11	108383766	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	46086014	108383766	26622750	33	21437											
PTPRO	5800	genome.wustl.edu	37	12	15654706	15654706	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr12:15654706C>T	ENST00000281171.4	+	5	1144	c.814C>T	c.(814-816)Cct>Tct	p.P272S	PTPRO_ENST00000348962.2_Missense_Mutation_p.P272S|PTPRO_ENST00000543886.1_Missense_Mutation_p.P272S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	272	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AGAAGAAACCCCTGAAATTCC	0.428																																																0			12											68	67	67					12																	15654706		2203	4300	6503	15545973	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.814C>T	12.37:g.15654706C>T	ENSP00000281171:p.Pro272Ser		15545973	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	4.616	0.114550	0.08831	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03951	3.77;3.75	4.49	2.58	0.30949	.	0.166732	0.28290	N	0.015898	T	0.02380	0.0073	N	0.12182	0.205	0.09310	N	0.999997	B;B;B	0.34103	0.029;0.085;0.437	B;B;B	0.30401	0.013;0.039;0.115	T	0.46205	-0.9208	10	0.29301	T	0.29	.	4.9957	0.14237	0.1467:0.6256:0.0:0.2277	.	272;272;272	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	S	272	ENSP00000281171:P272S;ENSP00000343434:P272S	ENSP00000281171:P272S	P	+	1	0	PTPRO	15545973	0.001000	0.12720	0.013000	0.15412	0.666000	0.39218	0.222000	0.17699	0.466000	0.27193	-0.312000	0.09012	CCT		0.428	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			T	15654706	C	T	15654706	3	4	393	1	0	0	0	0	1	0	0	0	12812	623	22	2	832	2	PTPRO	12	15654706	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		15654706	118197189	34	21438											
HOXC13	3229	genome.wustl.edu	37	12	54338822	54338822	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr12:54338822C>A	ENST00000243056.3	+	2	931	c.775C>A	c.(775-777)Cgc>Agc	p.R259S		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	259					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CAGCTACCGGCGCGGGCGCAA	0.607			T	NUP98	AML																																		Dom	yes		12	12q13.3	3229	homeo box C13		L	0			12											75	83	80					12																	54338822		2203	4300	6503	52625089	SO:0001583	missense	3229				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.775C>A	12.37:g.54338822C>A	ENSP00000243056:p.Arg259Ser		52625089	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271963	0.80469	.	.	ENSG00000123364	ENST00000243056	D	0.95690	-3.78	4.95	4.0	0.46444	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.86502	2.82	0.58432	D	0.999996	D	0.65815	0.995	D	0.71656	0.974	D	0.96969	0.9707	10	0.87932	D	0	.	10.619	0.45467	0.3189:0.6811:0.0:0.0	.	259	P31276	HXC13_HUMAN	S	259	ENSP00000243056:R259S	ENSP00000243056:R259S	R	+	1	0	HOXC13	52625089	0.974000	0.33945	0.998000	0.56505	0.930000	0.56654	2.322000	0.43814	2.755000	0.94549	0.655000	0.94253	CGC		0.607	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			A	54338822	C	A	54338822	3	1	393	1	0	0	0	0	1	0	0	0	7312	768	27	3	781	3	HOXC13	12	54338822	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	38684116	54338822	79513073	35	21439											
SMUG1	23583	genome.wustl.edu	37	12	54576197	54576197	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr12:54576197G>A	ENST00000508394.2	-	3	558	c.496C>T	c.(496-498)Cct>Tct	p.P166S	SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.P166S|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.P166S|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000506595.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	166				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						AAAAGCAGAGGGCATAGATTG	0.557								Base excision repair (BER), DNA glycosylases																																								0			12											84	85	84					12																	54576197		2203	4300	6503	52862464	SO:0001583	missense	23583			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.496C>T	12.37:g.54576197G>A	ENSP00000424191:p.Pro166Ser		52862464	A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366666	0.82463	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977;ENST00000504338	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.86	4.86	0.63082	Uracil-DNA glycosylase-like (3);	0.051284	0.85682	D	0.000000	D	0.82953	0.5149	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86832	0.2011	10	0.72032	D	0.01	.	17.1702	0.86827	0.0:0.0:1.0:0.0	.	166	Q53HV7	SMUG1_HUMAN	S	166	ENSP00000338606:P166S;ENSP00000424191:P166S;ENSP00000384828:P166S;ENSP00000423083:P166S	ENSP00000338606:P166S	P	-	1	0	SMUG1	52862464	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.574000	0.90763	2.415000	0.81967	0.563000	0.77884	CCT		0.557	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		A	54576197	G	A	54576197	3	1	393	1	0	0	0	0	1	0	0	0	14821	1232	43	2	320	2	SMUG1	12	54576197	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	237375	54576197	79275698	36	21440											
STAB2	55576	genome.wustl.edu	37	12	104031811	104031811	+	Nonsense_Mutation	SNP	C	C	T	rs149696858	byFrequency	TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr12:104031811C>T	ENST00000388887.2	+	8	931	c.727C>T	c.(727-729)Cga>Tga	p.R243*		NM_017564.9	NP_060034.9			stabilin 2									p.R243*(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCCATGTTTACGAAAAATCTG	0.488													C|||	3	0.000599042	0	0	5008	,	,		20844	0.002		0.001	False		,,,				2504	0															1	Substitution - Nonsense(1)	prostate(1)	12						C	stop/ARG	0,4406		0,0,2203	221	181	195		727	1.1	0	12	dbSNP_134	195	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	STAB2	NM_017564.9		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		243/2552	104031811	1,13005	2203	4300	6503	102555941	SO:0001587	stop_gained	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.727C>T	12.37:g.104031811C>T	ENSP00000373539:p.Arg243*		102555941		Nonsense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.0	4.971627	0.92919	0.0	1.16E-4	ENSG00000136011	ENST00000388887	.	.	.	5.38	1.12	0.20585	.	0.594828	0.17469	N	0.173146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	9.7534	0.40490	0.4093:0.3763:0.2144:0.0	.	.	.	.	X	243	.	ENSP00000373539:R243X	R	+	1	2	STAB2	102555941	0.004000	0.15560	0.000000	0.03702	0.224000	0.24922	0.414000	0.21164	0.201000	0.20466	-0.175000	0.13238	CGA		0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104031811	C	T	104031811	4	4	393	1	0	0	0	0	0	1	0	0	15240	528	19	1	757	1	STAB2	12	104031811	Nonsense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	49455614	104031811	29820084	37	21441											
RNF17	56163	genome.wustl.edu	37	13	25363856	25363856	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr13:25363856A>G	ENST00000255324.5	+	9	933	c.881A>G	c.(880-882)gAg>gGg	p.E294G	RNF17_ENST00000255325.6_Missense_Mutation_p.E294G|RNF17_ENST00000381921.1_Missense_Mutation_p.E294G|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	294					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATTGCAGTGAGATCATCTGT	0.308																																																0			13											160	162	161					13																	25363856		2203	4296	6499	24261856	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.881A>G	13.37:g.25363856A>G	ENSP00000255324:p.Glu294Gly		24261856	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838389	0.71373	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.37915	2.19;2.21;1.17	4.86	4.86	0.63082	.	0.303544	0.31404	N	0.007720	T	0.46328	0.1387	L	0.34521	1.04	0.35105	D	0.765602	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.963;0.998	T	0.54456	-0.8291	10	0.33141	T	0.24	.	12.1151	0.53860	1.0:0.0:0.0:0.0	.	294;294;294	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	G	294;294;153;295;294	ENSP00000255324:E294G;ENSP00000371346:E294G;ENSP00000255325:E295G	ENSP00000255324:E294G	E	+	2	0	RNF17	24261856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.005000	0.63972	2.054000	0.61138	0.533000	0.62120	GAG		0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		G	25363856	A	G	25363856	3	3	393	1	0	0	0	0	1	0	0	0	13464	304	11	4	915	4	RNF17	13	25363856	Missense_Mutation	SNP	A	TCGA-36-2544-01A-01D-1526-09		25363856	89806022	38	21442											
GCH1	2643	genome.wustl.edu	37	14	55326408	55326408	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr14:55326408T>A	ENST00000491895.2	-	3	688	c.500A>T	c.(499-501)aAa>aTa	p.K167I	GCH1_ENST00000536224.2_Missense_Mutation_p.K167I|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000543643.2_Missense_Mutation_p.K167I|GCH1_ENST00000395514.1_Missense_Mutation_p.K167I|RNU6ATAC9P_ENST00000516210.1_RNA	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	167					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						CCTCGCAAGTTTGCTGAGGCC	0.433																																					Pancreas(198;1245 2204 4807 21567 38372)											0			14											125	109	115					14																	55326408		2203	4300	6503	54396158	SO:0001583	missense	2643			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"dopa-responsive dystonia"	600225	"dystonia 14"	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.500A>T	14.37:g.55326408T>A	ENSP00000419045:p.Lys167Ile		54396158	Q6FHY7|Q9Y4I8	Missense_Mutation	SNP	ENST00000491895.2	37	CCDS9720.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.870229	0.91587	.	.	ENSG00000131979	ENST00000395514;ENST00000543643;ENST00000491895;ENST00000536224;ENST00000395524	D;D;D;D	0.99842	-7.1;-7.1;-7.1;-7.1	5.1	5.1	0.69264	GTP cyclohydrolase I/Nitrile oxidoreductase (1);	0.098474	0.64402	D	0.000002	D	0.99906	0.9955	H	0.99156	4.45	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.999	D	0.96101	0.9069	10	0.87932	D	0	-10.3992	14.2002	0.65699	0.0:0.0:0.0:1.0	.	167;167;167;167	F8W9F6;P30793-2;P30793-4;P30793	.;.;.;GCH1_HUMAN	I	167	ENSP00000378890:K167I;ENSP00000444011:K167I;ENSP00000419045:K167I;ENSP00000445246:K167I	ENSP00000378890:K167I	K	-	2	0	GCH1	54396158	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.478000	0.81082	2.127000	0.65507	0.459000	0.35465	AAA		0.433	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3			A	55326408	T	A	55326408	3	1	393	1	0	0	0	0	1	0	0	0	6291	1841	64	5	368	5	GCH1	14	55326408	Missense_Mutation	SNP	T	TCGA-36-2544-01A-01D-1526-09		55326408	52023132	39	21443											
C14orf149	112849	genome.wustl.edu	37	14	59950697	59950697	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr14:59950697C>A	ENST00000247194.4	-	1	451	c.338G>T	c.(337-339)cGc>cTc	p.R113L	JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_5'Flank|JKAMP_ENST00000556985.1_5'Flank|JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000554271.1_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	113					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CAAAGCGAAGCGGCCCAGCGC	0.701											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			14											11	11	11					14																	59950697		2135	4181	6316	59020450	SO:0001583	missense	112849			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.338G>T	14.37:g.59950697C>A	ENSP00000247194:p.Arg113Leu	1042	59020450	Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744182	0.89663	.	.	ENSG00000126790	ENST00000247194	T	0.18174	2.23	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.51143	0.1657	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.57802	-0.7748	10	0.42905	T	0.14	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	113;113	B4DGY8;Q96EM0	.;PRCM_HUMAN	L	113	ENSP00000247194:R113L	ENSP00000247194:R113L	R	-	2	0	C14orf149	59020450	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.038000	0.76537	2.522000	0.85027	0.561000	0.74099	CGC		0.701	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		A	59950697	C	A	59950697	3	1	393	1	0	0	0	0	1	0	0	0	1752	768	27	3	746	3	C14orf149	14	59950697	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	4624289	59950697	47398843	40	21444											
SPTB	6710	genome.wustl.edu	37	14	65249227	65249227	+	Silent	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr14:65249227C>A	ENST00000389721.5	-	19	4079	c.4047G>T	c.(4045-4047)ctG>ctT	p.L1349L	SPTB_ENST00000556626.1_Silent_p.L1349L|SPTB_ENST00000389720.3_Silent_p.L1349L|SPTB_ENST00000542895.1_Silent_p.L1349L|SPTB_ENST00000389722.3_Silent_p.L1349L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1349					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTGGGACACCAGGGCTGTAA	0.607																																																0			14											115	124	121					14																	65249227		2203	4300	6503	64318980	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4047G>T	14.37:g.65249227C>A			64318980	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			A	65249227	C	A	65249227	2	1	393	1	0	0	0	0	0	0	0	1	15120	581	21	3		3	SPTB	14	65249227	Silent	SNP	C	TCGA-36-2544-01A-01D-1526-09	5298530	65249227	42100313	41	21445											
ZWILCH	55055	genome.wustl.edu	37	15	66821190	66821190	+	Splice_Site	SNP	A	A	G			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr15:66821190A>G	ENST00000307897.5	+	11	1350	c.970A>G	c.(970-972)Acc>Gcc	p.T324A	ZWILCH_ENST00000446801.2_Splice_Site_p.T210A|ZWILCH_ENST00000535141.2_Splice_Site_p.T210A|ZWILCH_ENST00000565627.1_Splice_Site_p.T210A	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	324					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCTTTTTCAGACCTTGAAGCA	0.388																																																0			15											89	83	85					15																	66821190		2201	4299	6500	64608244	SO:0001630	splice_region_variant	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.970-1A>G	15.37:g.66821190A>G			64608244	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	A	8.861	0.947017	0.18356	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.39997	1.05;1.05;1.05	5.18	-0.88	0.10610	.	0.835756	0.11042	N	0.605976	T	0.16257	0.0391	N	0.04043	-0.29	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.26950	-1.0088	9	.	.	.	-0.4378	5.1382	0.14945	0.5959:0.0:0.2788:0.1252	.	324	Q9H900	ZWILC_HUMAN	A	324;210;210	ENSP00000311429:T324A;ENSP00000402217:T210A;ENSP00000437749:T210A	.	T	+	1	0	ZWILCH	64608244	0.004000	0.15560	0.559000	0.28332	0.230000	0.25150	0.053000	0.14184	0.171000	0.19730	0.379000	0.24179	ACC		0.388	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975	Missense_Mutation	G	66821190	A	G	66821190	5	3	393	1	0	0	0	0	0	0	1	0	18248	289	10	4	1012	4	ZWILCH	15	66821190	Splice_Site	SNP	A	TCGA-36-2544-01A-01D-1526-09		66821190	35710202	42	21446											
ACSBG1	23205	genome.wustl.edu	37	15	78486862	78486862	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr15:78486862T>C	ENST00000258873.4	-	3	644	c.439A>G	c.(439-441)Aag>Gag	p.K147E	ACSBG1_ENST00000558828.1_5'Flank|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	147					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGGAAGCCCTTGGCGGCTCTG	0.617																																																0			15											55	61	59					15																	78486862		2196	4293	6489	76273917	SO:0001583	missense	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.439A>G	15.37:g.78486862T>C	ENSP00000258873:p.Lys147Glu		76273917	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	30	5.053522	0.93793	.	.	ENSG00000103740	ENST00000258873	T	0.40225	1.04	5.12	5.12	0.69794	AMP-dependent synthetase/ligase (1);	0.054245	0.64402	N	0.000001	T	0.68723	0.3032	M	0.89904	3.07	0.80722	D	1	D;D	0.76494	0.999;0.989	D;D	0.67382	0.951;0.945	T	0.76187	-0.3051	10	0.66056	D	0.02	-42.3277	13.7668	0.62999	0.0:0.0:0.0:1.0	.	147;147	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	E	147	ENSP00000258873:K147E	ENSP00000258873:K147E	K	-	1	0	ACSBG1	76273917	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.370000	0.66144	1.929000	0.55896	0.533000	0.62120	AAG		0.617	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		C	78486862	T	C	78486862	3	2	393	1	0	0	0	0	1	0	0	0	173	1821	63	4	1783	4	ACSBG1	15	78486862	Missense_Mutation	SNP	T	TCGA-36-2544-01A-01D-1526-09	11665672	78486862	24044530	43	21447											
MAN2A2	4122	genome.wustl.edu	37	15	91448687	91448687	+	Silent	SNP	G	G	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr15:91448687G>A	ENST00000559717.1	+	3	798	c.339G>A	c.(337-339)ccG>ccA	p.P113P	MAN2A2_ENST00000360468.3_Silent_p.P113P|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	113					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCATCTCCCCGCAGGACTGCC	0.657																																																0			15											24	30	28					15																	91448687		2196	4297	6493	89249691	SO:0001819	synonymous_variant	4122			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.339G>A	15.37:g.91448687G>A			89249691	A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	CCDS32332.1																																																																																				0.657	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		A	91448687	G	A	91448687	2	1	393	1	0	0	0	0	0	0	0	1	9215	1074	38	1		1	MAN2A2	15	91448687	Silent	SNP	G	TCGA-36-2544-01A-01D-1526-09	12961825	91448687	11082705	44	21448											
PRC1	9055	genome.wustl.edu	37	15	91512754	91512754	+	Missense_Mutation	SNP	C	C	A	rs201777744		TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr15:91512754C>A	ENST00000361188.5	-	13	2883	c.1672G>T	c.(1672-1674)Ggt>Tgt	p.G558C	PRC1_ENST00000394249.3_Missense_Mutation_p.G558C|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Splice_Site_p.A558S|PRC1_ENST00000442656.2_Splice_Site_p.A517S|PRC1-AS1_ENST00000556200.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGGTACCCACCACTCAGGATG	0.542																																																0			15						C	CYS/GLY,CYS/GLY,SER/ALA	0,4396		0,0,2198	121	100	107		1672,1672,1672	6.1	1	15		107	2,8594	2.2+/-6.3	0,2,4296	yes	missense,missense,missense-near-splice	PRC1	NM_003981.2,NM_199413.1,NM_199414.1	159,159,99	0,2,6494	AA,AC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	558/621,558/607,558/567	91512754	2,12990	2198	4298	6496	89313758	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1672G>T	15.37:g.91512754C>A	ENSP00000354679:p.Gly558Cys		89313758		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.397491|4.397491	0.83120|0.83120	0.0|0.0	2.33E-4|2.33E-4	ENSG00000198901|ENSG00000198901	ENST00000361919;ENST00000442656|ENST00000394249;ENST00000361188;ENST00000555455	T;T|T;T	0.29142|0.31510	1.58;1.58|1.49;1.49	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.237656	.|0.42172	.|D	.|0.000759	T|T	0.38241|0.38241	0.1033|0.1033	N|N	0.08118|0.08118	0|0	0.35595|0.35595	D|D	0.807417|0.807417	B;B|D;D	0.15930|0.61080	0.001;0.015|0.989;0.983	B;B|P;D	0.23419|0.66716	0.012;0.046|0.889;0.946	T|T	0.52895|0.52895	-0.8514|-0.8514	9|10	0.20046|0.62326	T|D	0.44|0.03	.|.	20.2194|20.2194	0.98323|0.98323	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	517;558|528;558	O43663-3;F8W9B5|O43663-2;O43663	.;.|.;PRC1_HUMAN	S|C	558;517|558;558;161	ENSP00000354618:A558S;ENSP00000409549:A517S|ENSP00000377793:G558C;ENSP00000354679:G558C	ENSP00000354618:A558S|ENSP00000354679:G558C	A|G	-|-	1|1	0|0	PRC1|PRC1	89313758|89313758	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	4.952000|4.952000	0.63618|0.63618	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GCG|GGT		0.542	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		A	91512754	C	A	91512754	3	1	393	1	0	0	0	0	1	0	0	0	12449	608	21	3	202	3	PRC1	15	91512754	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09	64067	91512754	11018638	45	21449											
CBLN1	869	genome.wustl.edu	37	16	49315292	49315292	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr16:49315292C>A	ENST00000219197.6	-	1	450	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	CBLN1_ENST00000536749.1_Missense_Mutation_p.V29L	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	29					cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CCCTCCAGCACGATGGGCTCC	0.731																																																0			16											26	27	26					16																	49315292		2199	4299	6498	47872793	SO:0001583	missense	869			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.85G>T	16.37:g.49315292C>A	ENSP00000219197:p.Val29Leu		47872793	B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681331	0.29872	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	D;D	0.82081	-1.57;-1.57	3.88	3.88	0.44766	.	0.144445	0.45361	D	0.000370	T	0.68805	0.3041	L	0.35542	1.07	0.41283	D	0.98692	B	0.12013	0.005	B	0.12156	0.007	T	0.59327	-0.7475	10	0.10377	T	0.69	-14.8922	6.6575	0.22996	0.0:0.715:0.1843:0.1007	.	29	P23435	CBLN1_HUMAN	L	29	ENSP00000219197:V29L;ENSP00000444651:V29L	ENSP00000219197:V29L	V	-	1	0	CBLN1	47872793	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	1.136000	0.31467	1.994000	0.58287	0.462000	0.41574	GTG		0.731	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		A	49315292	C	A	49315292	3	1	393	1	0	0	0	0	1	0	0	0	2704	536	19	3	508	3	CBLN1	16	49315292	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		49315292	41039461	46	21450											
ZNF232	7775	genome.wustl.edu	37	17	5009610	5009610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr17:5009610G>A	ENST00000250076.3	-	5	1498	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Nonsense_Mutation_p.Q273*|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	255					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CTTTCCTCCTGGGCAGGGGAC	0.458																																																0			17											98	98	98					17																	5009610		2203	4300	6503	4950334	SO:0001587	stop_gained	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.844C>T	17.37:g.5009610G>A	ENSP00000250076:p.Gln282*		4950334		Nonsense_Mutation	SNP	ENST00000250076.3	37	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359701	0.24598	.	.	ENSG00000167840	ENST00000250076	.	.	.	2.99	2.99	0.34606	.	0.000000	0.31020	N	0.008408	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	12.2055	0.54350	0.0:0.0:1.0:0.0	.	.	.	.	X	282	.	ENSP00000250076:Q282X	Q	-	1	0	ZNF232	4950334	0.145000	0.22656	0.536000	0.28039	0.184000	0.23303	3.417000	0.52714	1.958000	0.56883	0.655000	0.94253	CAG		0.458	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		A	5009610	G	A	5009610	4	1	393	1	0	0	0	0	0	1	0	0	17785	1357	47	2	494	2	ZNF232	17	5009610	Nonsense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09		5009610	76185600	47	21451											
MYOCD	93649	genome.wustl.edu	37	17	12626204	12626204	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr17:12626204G>C	ENST00000343344.4	+	5	294	c.294G>C	c.(292-294)aaG>aaC	p.K98N	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.K2N|MYOCD_ENST00000425538.1_Missense_Mutation_p.K98N			Q8IZQ8	MYCD_HUMAN	myocardin	98					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCAGATGAAGCTGAAAAGAG	0.448																																																0			17											126	136	132					17																	12626204		2203	4300	6503	12566929	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.294G>C	17.37:g.12626204G>C	ENSP00000341835:p.Lys98Asn		12566929	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678539	0.68042	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.51071	0.72	5.46	3.49	0.39957	.	0.313194	0.34531	N	0.003886	T	0.62454	0.2429	M	0.75264	2.295	0.40972	D	0.984709	D;D;D	0.76494	0.999;0.999;0.997	D;D;P	0.69479	0.964;0.911;0.81	T	0.64011	-0.6507	10	0.66056	D	0.02	-30.4684	7.1236	0.25458	0.3218:0.0:0.6782:0.0	.	2;98;98	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	N	98;98;2	ENSP00000341835:K98N	ENSP00000341835:K98N	K	+	3	2	MYOCD	12566929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.042000	0.49815	0.879000	0.35944	0.655000	0.94253	AAG		0.448	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		C	12626204	G	C	12626204	3	2	393	1	0	0	0	0	1	0	0	0	10087	962	34	3	312	3	MYOCD	17	12626204	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	7616594	12626204	68569006	48	21452											
ALDH3A2	224	genome.wustl.edu	37	17	19552332	19552332	+	Silent	SNP	G	G	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr17:19552332G>T	ENST00000176643.6	+	1	494	c.48G>T	c.(46-48)cgG>cgT	p.R16R	ALDH3A2_ENST00000581518.1_Silent_p.R16R|ALDH3A2_ENST00000395575.2_Silent_p.R16R|Y_RNA_ENST00000578640.1_RNA|ALDH3A2_ENST00000339618.4_Silent_p.R16R|ALDH3A2_ENST00000579855.1_Silent_p.R16R			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	16					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TGTCCGGCCGGTCGCGACCTC	0.697																																																0			17											10	12	11					17																	19552332		2164	4252	6416	19492924	SO:0001819	synonymous_variant	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.48G>T	17.37:g.19552332G>T			19492924	Q6I9T3|Q93011|Q96J37	Silent	SNP	ENST00000176643.6	37	CCDS11210.1																																																																																				0.697	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			T	19552332	G	T	19552332	2	4	393	1	0	0	0	0	0	0	0	1	498	1248	44	3		3	ALDH3A2	17	19552332	Silent	SNP	G	TCGA-36-2544-01A-01D-1526-09	6926128	19552332	61642878	49	21453											
KIAA0802	23255	genome.wustl.edu	37	18	8798104	8798104	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr18:8798104C>T	ENST00000306329.11	+	8	3208	c.3208C>T	c.(3208-3210)Cca>Tca	p.P1070S	SOGA2_ENST00000306285.7_Missense_Mutation_p.P66S|SOGA2_ENST00000517570.1_Missense_Mutation_p.P710S|SOGA2_ENST00000359865.3_Missense_Mutation_p.P751S|SOGA2_ENST00000518815.1_Missense_Mutation_p.P66S|SOGA2_ENST00000400050.3_Missense_Mutation_p.P710S																							GGGTGAACATCCAGAGACCCT	0.562																																																0			18											47	42	43					18																	8798104		2203	4300	6503	8788104	SO:0001583	missense	23255																														ENST00000306329.11:c.3208C>T	18.37:g.8798104C>T	ENSP00000305027:p.Pro1070Ser		8788104		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	7.849	0.723595	0.15439	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.28	0.987	0.19790	.	0.276491	0.26453	N	0.024282	T	0.41419	0.1158	L	0.56769	1.78	0.28029	N	0.934212	B;B	0.17465	0.022;0.002	B;B	0.11329	0.005;0.006	T	0.35226	-0.9797	10	0.08837	T	0.75	-0.9157	10.1611	0.42853	0.1439:0.4368:0.4193:0.0	.	1061;751	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	S	772;710;751;710;66	ENSP00000429556:P710S;ENSP00000352927:P751S;ENSP00000382924:P710S;ENSP00000303670:P66S	ENSP00000303670:P66S	P	+	1	0	CCDC165	8788104	0.979000	0.34478	0.984000	0.44739	0.092000	0.18411	0.597000	0.24059	0.260000	0.21731	0.650000	0.86243	CCA		0.562	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8798104	C	T	8798104	3	4	393	1	0	0	0	0	1	0	0	0	8194	855	30	2	2281	2	KIAA0802	18	8798104	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		8798104	69279144	50	21454											
OR7A5	26659	genome.wustl.edu	37	19	14938717	14938717	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr19:14938717A>C	ENST00000322301.3	-	2	424	c.337T>G	c.(337-339)Ttc>Gtc	p.F113V	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.F113V			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	113					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GACAGGAGGAAGTTTTCAAAT	0.463																																																0			19											131	119	123					19																	14938717		2203	4300	6503	14799717	SO:0001583	missense	26659			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.337T>G	19.37:g.14938717A>C	ENSP00000316955:p.Phe113Val		14799717	B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	a	10.84	1.464876	0.26335	.	.	ENSG00000188269	ENST00000322301	T	0.05925	3.37	3.13	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32548	U	0.005956	T	0.05181	0.0138	L	0.38953	1.18	0.09310	N	1	B	0.31077	0.307	B	0.29524	0.103	T	0.32587	-0.9901	10	0.59425	D	0.04	.	6.4264	0.21772	0.8736:0.0:0.1264:0.0	.	113	Q15622	OR7A5_HUMAN	V	113	ENSP00000316955:F113V	ENSP00000316955:F113V	F	-	1	0	OR7A5	14799717	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	1.030000	0.30153	0.453000	0.26858	0.113000	0.15668	TTC		0.463	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		C	14938717	A	C	14938717	3	2	393	1	0	0	0	0	1	0	0	0	11216	72	3	5	626	5	OR7A5	19	14938717	Missense_Mutation	SNP	A	TCGA-36-2544-01A-01D-1526-09		14938717	44190266	51	21455											
ANKLE1	126549	genome.wustl.edu	37	19	17396546	17396546	+	Silent	SNP	C	C	T	rs148939227	byFrequency	TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr19:17396546C>T	ENST00000394458.3	+	8	1869	c.1593C>T	c.(1591-1593)tgC>tgT	p.C531C	ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Intron|ANKLE1_ENST00000594072.1_Silent_p.C494C|ANKLE1_ENST00000404085.1_Silent_p.C527C	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	531	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCAGTGGTTGCGGTGTTGTGT	0.602																																																0			19						C		0,4406		0,0,2203	137	109	118		1593	-4.7	0.6	19	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ANKLE1	NM_152363.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		531/616	17396546	2,13004	2203	4300	6503	17257546	SO:0001819	synonymous_variant	126549			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1593C>T	19.37:g.17396546C>T			17257546	A8VU82|Q8N8J8	Silent	SNP	ENST00000394458.3	37	CCDS12354.2																																																																																				0.602	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		T	17396546	C	T	17396546	2	4	393	1	0	0	0	0	0	0	0	1	632	776	27	1		1	ANKLE1	19	17396546	Silent	SNP	C	TCGA-36-2544-01A-01D-1526-09	2457829	17396546	41732437	52	21456											
GATAD2A	54815	genome.wustl.edu	37	19	19603513	19603513	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr19:19603513G>A	ENST00000360315.3	+	4	838	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	GATAD2A_ENST00000358713.3_Missense_Mutation_p.A176T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A33T|GATAD2A_ENST00000404158.1_Missense_Mutation_p.A176T|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A176T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	176	CR1; MBD2-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GGAAGCCACCGCCCAGAAGGT	0.522																																																0			19											95	88	91					19																	19603513		2203	4300	6503	19464513	SO:0001583	missense	54815			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.526G>A	19.37:g.19603513G>A	ENSP00000353463:p.Ala176Thr		19464513	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696423	0.30142	.	.	ENSG00000167491	ENST00000417582;ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T;T	0.46451	0.95;1.46;1.45;1.46;0.87	5.41	-6.79	0.01715	.	0.774966	0.12812	N	0.437120	T	0.22166	0.0534	L	0.38838	1.175	0.37796	D	0.927547	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.18398	-1.0338	10	0.13470	T	0.59	-11.434	6.6562	0.22988	0.18:0.0996:0.622:0.0983	.	33;195;176	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	176;176;176;195;176;33	ENSP00000403703:A176T;ENSP00000353463:A176T;ENSP00000252577:A176T;ENSP00000351552:A176T;ENSP00000388416:A33T	ENSP00000252577:A176T	A	+	1	0	GATAD2A	19464513	0.000000	0.05858	0.003000	0.11579	0.634000	0.38068	0.132000	0.15891	-1.185000	0.02716	-0.367000	0.07326	GCC		0.522	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		A	19603513	G	A	19603513	3	1	393	1	0	0	0	0	1	0	0	0	6260	1087	38	1	536	1	GATAD2A	19	19603513	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	2206967	19603513	39525470	53	21457											
ZNF253	56242	genome.wustl.edu	37	19	20002770	20002770	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr19:20002770G>C	ENST00000589717.1	+	4	806	c.714G>C	c.(712-714)aaG>aaC	p.K238N	ZNF253_ENST00000355650.4_Missense_Mutation_p.K162N|AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	238				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCCTTTAAGCAGTCCTCAA	0.408																																																0			19											45	49	48					19																	20002770		2169	4283	6452	19863770	SO:0001583	missense	56242			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"Zinc fingers, C2H2-type", "-"	13497	protein-coding gene	gene with protein product		606954	"zinc finger protein 411"	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.714G>C	19.37:g.20002770G>C	ENSP00000468720:p.Lys238Asn		19863770	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.917821	0.00503	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22166	0.0534	N	0.21097	0.63	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.20874	-1.0262	7	.	.	.	.	3.4306	0.07426	0.2365:0.2683:0.4953:0.0	.	238	O75346	ZN253_HUMAN	N	238	.	.	K	+	3	2	ZNF253	19863770	0.000000	0.05858	0.109000	0.21407	0.109000	0.19521	-6.726000	0.00055	-0.881000	0.03992	-0.876000	0.02978	AAG		0.408	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		C	20002770	G	C	20002770	3	2	393	1	0	0	0	0	1	0	0	0	17797	962	34	3	728	3	ZNF253	19	20002770	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	399257	20002770	39126213	54	21458											
PCK1	5105	genome.wustl.edu	37	20	56136665	56136665	+	Silent	SNP	C	C	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr20:56136665C>T	ENST00000319441.4	+	2	362	c.198C>T	c.(196-198)ctC>ctT	p.L66L	PCK1_ENST00000535860.1_5'UTR|PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	66					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGGGCATCCTCAGGCGGCTGA	0.612																																																0			20											72	71	71					20																	56136665		2203	4300	6503	55570071	SO:0001819	synonymous_variant	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.198C>T	20.37:g.56136665C>T			55570071	A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	CCDS13460.1																																																																																				0.612	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			T	56136665	C	T	56136665	2	4	393	1	0	0	0	0	0	0	0	1	11581	813	29	2		2	PCK1	20	56136665	Silent	SNP	C	TCGA-36-2544-01A-01D-1526-09		56136665	6888855	55	21459											
SYNJ1	8867	genome.wustl.edu	37	21	34067449	34067449	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr21:34067449C>G	ENST00000322229.7	-	4	622	c.623G>C	c.(622-624)aGc>aCc	p.S208T	SYNJ1_ENST00000382491.3_Missense_Mutation_p.S208T|SYNJ1_ENST00000382499.2_Missense_Mutation_p.S247T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S247T|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S208T			O43426	SYNJ1_HUMAN	synaptojanin 1	208	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCGTTCACAGCTTAATCTTGA	0.398																																																0			21											152	133	140					21																	34067449		2203	4300	6503	32989320	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.623G>C	21.37:g.34067449C>G	ENSP00000322234:p.Ser208Thr		32989320	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971295	0.92919	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.96	4.96	0.65561	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89090	0.6616	H	0.98178	4.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998	D;D;D;D;D	0.87578	0.997;0.998;0.991;0.998;0.941	D	0.93256	0.6639	10	0.87932	D	0	.	18.6311	0.91360	0.0:1.0:0.0:0.0	.	208;247;208;208;208	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	T	208;208;247;247;208;208	ENSP00000371931:S208T;ENSP00000349903:S208T;ENSP00000371939:S247T;ENSP00000409667:S247T;ENSP00000322234:S208T;ENSP00000413649:S208T	ENSP00000322234:S208T	S	-	2	0	SYNJ1	32989320	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.214000	0.77958	2.486000	0.83907	0.558000	0.71614	AGC		0.398	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				G	34067449	C	G	34067449	3	3	393	1	0	0	0	0	1	0	0	0	15452	797	28	3	4244	3	SYNJ1	21	34067449	Missense_Mutation	SNP	C	TCGA-36-2544-01A-01D-1526-09		34067449	14062446	56	21460											
BCR	613	genome.wustl.edu	37	22	23629403	23629403	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr22:23629403G>C	ENST00000305877.8	+	11	3215	c.2464G>C	c.(2464-2466)Gag>Cag	p.E822Q	BCR_ENST00000359540.3_Missense_Mutation_p.E822Q	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	822	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GTCGGAGCAGGAGTCACTGCT	0.627			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0			22											164	115	132					22																	23629403		2193	4287	6480	21959403	SO:0001583	missense	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2464G>C	22.37:g.23629403G>C	ENSP00000303507:p.Glu822Gln		21959403	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054028	0.93793	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.21932	1.98;1.98	4.42	4.42	0.53409	Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.992;1.0	D;D;D;D	0.97110	0.987;0.987;0.943;1.0	T	0.48364	-0.9042	10	0.26408	T	0.33	.	16.8994	0.86109	0.0:0.0:1.0:0.0	.	411;440;822;822	B4E065;Q12844;P11274-2;P11274	.;.;.;BCR_HUMAN	Q	822;822;487	ENSP00000303507:E822Q;ENSP00000352535:E822Q	ENSP00000303507:E822Q	E	+	1	0	BCR	21959403	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.456000	0.97628	2.383000	0.81215	0.655000	0.94253	GAG		0.627	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		C	23629403	G	C	23629403	3	2	393	1	0	0	0	0	1	0	0	0	1388	1175	41	3	2506	3	BCR	22	23629403	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09		23629403	27675163	57	21461											
CPT1B	1375	genome.wustl.edu	37	22	51008064	51008064	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chr22:51008064T>C	ENST00000360719.2	-	18	2313	c.2176A>G	c.(2176-2178)Att>Gtt	p.I726V	CPT1B_ENST00000440709.1_Missense_Mutation_p.I645V|CPT1B_ENST00000312108.7_Missense_Mutation_p.I726V|CPT1B_ENST00000457250.1_Missense_Mutation_p.I692V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.I726V|CPT1B_ENST00000395650.2_Missense_Mutation_p.I726V|CPT1B_ENST00000434492.2_Missense_Mutation_p.I521V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	726					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCGCCTGCAATCATGTAGGAA	0.502																																					Esophageal Squamous(170;988 1933 25577 30295 48163)											0			22											142	122	129					22																	51008064		2203	4300	6503	49354930	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2176A>G	22.37:g.51008064T>C	ENSP00000353945:p.Ile726Val		49354930	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584634	0.28268	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.09	5.09	0.68999	.	0.108144	0.64402	D	0.000008	D	0.86351	0.5912	L	0.42744	1.35	0.53688	D	0.999978	P;B;B;B	0.46952	0.887;0.096;0.299;0.198	P;B;B;B	0.48738	0.588;0.163;0.158;0.192	D	0.83956	0.0319	10	0.30854	T	0.27	-19.1413	8.3561	0.32331	0.1753:0.0:0.0:0.8247	.	645;692;521;726	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	726;726;726;692;645;521;726	ENSP00000385486:I726V;ENSP00000312189:I726V;ENSP00000353945:I726V;ENSP00000409342:I692V;ENSP00000414713:I645V;ENSP00000410966:I521V;ENSP00000379011:I726V	ENSP00000312189:I726V	I	-	1	0	CPT1B	49354930	1.000000	0.71417	0.988000	0.46212	0.560000	0.35617	4.441000	0.59981	1.916000	0.55485	0.459000	0.35465	ATT		0.502	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		C	51008064	T	C	51008064	3	2	393	1	0	0	0	0	1	0	0	0	3832	1435	50	4	150	4	CPT1B	22	51008064	Missense_Mutation	SNP	T	TCGA-36-2544-01A-01D-1526-09	27378661	51008064	296502	58	21462											
RPGR	6103	genome.wustl.edu	37	X	38182167	38182167	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chrX:38182167G>C	ENST00000339363.3	-	3	353	c.186C>G	c.(184-186)aaC>aaG	p.N62K	RPGR_ENST00000338898.3_Missense_Mutation_p.N62K|RPGR_ENST00000378505.2_Missense_Mutation_p.N62K|RPGR_ENST00000309513.3_Missense_Mutation_p.N62K|RPGR_ENST00000342811.3_Missense_Mutation_p.N62K|RPGR_ENST00000318842.7_Missense_Mutation_p.N62K|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	62					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GACCCCAGTTGTTACTGCCAA	0.358																																																0			X											142	124	130					X																	38182167		2202	4300	6502	38067111	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.186C>G	X.37:g.38182167G>C	ENSP00000343671:p.Asn62Lys		38067111	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.040461	0.75732	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.86	5.86	0.93980	.	0.000000	0.85682	U	0.000000	D	0.96756	0.8941	H	0.96970	3.915	0.50313	D	0.999869	D;D	0.89917	1.0;0.979	D;D	0.97110	1.0;0.967	D	0.97760	1.0220	10	0.72032	D	0.01	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	62;62	E9PE28;Q92834-2	.;.	K	62	ENSP00000343671:N62K;ENSP00000308783:N62K;ENSP00000340208:N62K;ENSP00000322219:N62K;ENSP00000339531:N62K;ENSP00000367766:N62K	ENSP00000308783:N62K	N	-	3	2	RPGR	38067111	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.932000	0.48940	2.477000	0.83638	0.594000	0.82650	AAC		0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		C	38182167	G	C	38182167	3	2	393	1	0	0	0	0	1	0	0	0	13551	1368	48	3	3883	3	RPGR	23	38182167	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09		38182167	117088393	59	21463											
MAGED1	9500	genome.wustl.edu	37	X	51644798	51644798	+	Silent	SNP	G	G	A			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chrX:51644798G>A	ENST00000375722.1	+	12	2361	c.2109G>A	c.(2107-2109)ggG>ggA	p.G703G	MAGED1_ENST00000375772.3_Silent_p.G703G|MAGED1_ENST00000375695.2_Silent_p.G759G|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.G703G			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	703					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGTGTCTGGGCCCTGGAGCT	0.562										Multiple Myeloma(10;0.10)																																						0			X											92	85	88					X																	51644798		2203	4300	6503	51661538	SO:0001819	synonymous_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2109G>A	X.37:g.51644798G>A			51661538	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1																																																																																				0.562	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		A	51644798	G	A	51644798	2	1	393	1	0	0	0	0	0	0	0	1	9183	1190	42	2		2	MAGED1	23	51644798	Silent	SNP	G	TCGA-36-2544-01A-01D-1526-09	13462631	51644798	103625762	60	21464											
FAM120C	54954	genome.wustl.edu	37	X	54161410	54161410	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2544-01A-01D-1526-09	TCGA-36-2544-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	43b4cb62-2673-4a89-b008-6f4543187739	7496067e-a6ab-4574-bab3-664e9237011b	g.chrX:54161410G>T	ENST00000375180.2	-	7	1526	c.1470C>A	c.(1468-1470)agC>agA	p.S490R	FAM120C_ENST00000328235.4_Missense_Mutation_p.S490R	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	490							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGCAAAGGGGCTGTTCTGCA	0.527																																																0			X											79	69	73					X																	54161410		2203	4300	6503	54178135	SO:0001583	missense	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1470C>A	X.37:g.54161410G>T	ENSP00000364324:p.Ser490Arg		54178135	B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.657004	0.14580	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.47869	0.83;0.83	5.78	3.08	0.35506	.	0.370184	0.36200	N	0.002731	T	0.18964	0.0455	N	0.08118	0	0.21473	N	0.999671	P;P	0.36909	0.573;0.573	B;B	0.26202	0.067;0.067	T	0.12372	-1.0550	10	0.21540	T	0.41	-0.5703	5.9806	0.19405	0.2253:0.1371:0.6377:0.0	.	490;490	F8W881;Q9NX05	.;F120C_HUMAN	R	490	ENSP00000364324:S490R;ENSP00000329896:S490R	ENSP00000329896:S490R	S	-	3	2	FAM120C	54178135	0.980000	0.34600	0.772000	0.31596	0.313000	0.28021	1.185000	0.32065	0.228000	0.21019	0.600000	0.82982	AGC		0.527	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		T	54161410	G	T	54161410	3	4	393	1	0	0	0	0	1	0	0	0	5418	1194	42	3	1860	3	FAM120C	23	54161410	Missense_Mutation	SNP	G	TCGA-36-2544-01A-01D-1526-09	2516612	54161410	101109150	61	21465											
MATN1	4146	genome.wustl.edu	37	1	31191762	31191762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:31191762G>A	ENST00000373765.4	-	3	519	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	162	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GACACGTCCTGCACGCTGTCC	0.721																																																0			1											12	12	12					1																	31191762		2186	4274	6460	30964349	SO:0001587	stop_gained	4146			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.484C>T	1.37:g.31191762G>A	ENSP00000362870:p.Gln162*		30964349	B2R7E3|Q5TBB9	Nonsense_Mutation	SNP	ENST00000373765.4	37	CCDS336.1	.	.	.	.	.	.	.	.	.	.	G	37	6.410419	0.97546	.	.	ENSG00000162510	ENST00000373765	.	.	.	4.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-7.6911	12.1537	0.54064	0.0:0.0:0.6902:0.3098	.	.	.	.	X	162	.	ENSP00000362870:Q162X	Q	-	1	0	MATN1	30964349	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.189000	0.50965	2.135000	0.66039	0.491000	0.48974	CAG		0.721	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		A	31191762	G	A	31191762	4	1	394	1	0	0	0	0	0	1	0	0	9333	1328	46	2	1030	2	MATN1	1	31191762	Nonsense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09		31191762	218058859	1	21466											
PTPRF	5792	genome.wustl.edu	37	1	44069379	44069379	+	Silent	SNP	C	C	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:44069379C>T	ENST00000359947.4	+	16	2896	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G	PTPRF_ENST00000422171.2_Silent_p.G200G|PTPRF_ENST00000372413.3_Silent_p.G843G|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.G852G|PTPRF_ENST00000438120.1_Silent_p.G843G	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	852	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCTGCTGGGCTACCGGCTGC	0.647																																																0			1											39	41	40					1																	44069379		2203	4299	6502	43841966	SO:0001819	synonymous_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2556C>T	1.37:g.44069379C>T			43841966	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	.	.	.	.	.	.	.	.	.	.	C	8.979	0.974809	0.18736	.	.	ENSG00000142949	ENST00000429895	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55724	-0.8096	4	.	.	.	.	7.7817	0.29068	0.1628:0.7487:0.0:0.0885	.	.	.	.	V	498	.	.	A	+	2	0	PTPRF	43841966	0.984000	0.35163	1.000000	0.80357	0.984000	0.73092	0.221000	0.17680	2.504000	0.84457	0.655000	0.94253	GCT		0.647	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44069379	C	T	44069379	2	4	394	1	0	0	0	0	0	0	0	1	12804	784	28	2		2	PTPRF	1	44069379	Silent	SNP	C	TCGA-36-2545-01A-01D-1526-09	12877617	44069379	205181242	2	21467											
IPP	3652	genome.wustl.edu	37	1	46193309	46193309	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:46193309T>C	ENST00000396478.3	-	5	1144	c.1042A>G	c.(1042-1044)Att>Gtt	p.I348V		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	348						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTACCTCCAATAGCGTAGACC	0.373																																																0			1											121	116	118					1																	46193309		2203	4300	6503	45965896	SO:0001583	missense	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1042A>G	1.37:g.46193309T>C	ENSP00000379739:p.Ile348Val		45965896	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638281	0.29157	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	D;D	0.82167	-1.58;-1.58	5.86	5.86	0.93980	Galactose oxidase, beta-propeller (1);	0.052577	0.85682	D	0.000000	T	0.73760	0.3628	N	0.21240	0.645	0.58432	D	0.999998	B;B	0.25235	0.015;0.121	B;B	0.33960	0.085;0.173	T	0.67643	-0.5618	10	0.02654	T	1	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	348;348	Q9Y573;A2A6V3	IPP_HUMAN;.	V	348	ENSP00000353024:I348V;ENSP00000379739:I348V	ENSP00000353024:I348V	I	-	1	0	IPP	45965896	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.702000	0.54800	2.367000	0.80283	0.528000	0.53228	ATT		0.373	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		C	46193309	T	C	46193309	3	2	394	1	0	0	0	0	1	0	0	0	7800	1406	49	4	834	4	IPP	1	46193309	Missense_Mutation	SNP	T	TCGA-36-2545-01A-01D-1526-09	2123930	46193309	203057312	3	21468											
ABCA4	24	genome.wustl.edu	37	1	94522196	94522196	+	Silent	SNP	G	G	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:94522196G>T	ENST00000370225.3	-	15	2429	c.2343C>A	c.(2341-2343)gcC>gcA	p.A781A	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	781					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGTCCTGCCAGGCGAAGCACA	0.582																																																0			1											71	60	63					1																	94522196		2203	4300	6503	94294784	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2343C>A	1.37:g.94522196G>T			94294784	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94522196	G	T	94522196	2	4	394	1	0	0	0	0	0	0	0	1	34	987	35	3		3	ABCA4	1	94522196	Silent	SNP	G	TCGA-36-2545-01A-01D-1526-09	48328887	94522196	154728425	4	21469											
SYCP1	6847	genome.wustl.edu	37	1	115420722	115420722	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:115420722T>A	ENST00000369522.3	+	12	1049	c.809T>A	c.(808-810)cTa>cAa	p.L270Q	SYCP1_ENST00000369518.1_Missense_Mutation_p.L270Q	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	270					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		taGGTATCACTACTATTGATC	0.239																																																0			1											23	27	26					1																	115420722		2122	4227	6349	115222245	SO:0001583	missense	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.809T>A	1.37:g.115420722T>A	ENSP00000358535:p.Leu270Gln		115222245	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831046	0.50845	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.59224	0.28;0.28;0.28	4.59	3.42	0.39159	.	0.577780	0.15835	N	0.242307	T	0.45657	0.1353	M	0.65975	2.015	0.22996	N	0.998451	P;P	0.48640	0.913;0.913	P;P	0.55161	0.77;0.77	T	0.35025	-0.9805	10	0.13853	T	0.58	0.0023	7.8224	0.29294	0.1843:0.0:0.0:0.8157	.	270;270	B7ZLS9;Q15431	.;SYCP1_HUMAN	Q	270	ENSP00000358535:L270Q;ENSP00000410011:L270Q;ENSP00000358531:L270Q	ENSP00000358531:L270Q	L	+	2	0	SYCP1	115222245	0.813000	0.29090	0.904000	0.35570	0.824000	0.46624	1.357000	0.34090	0.673000	0.31224	0.460000	0.39030	CTA		0.239	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		A	115420722	T	A	115420722	3	1	394	1	0	0	0	0	1	0	0	0	15431	1522	53	5	851	5	SYCP1	1	115420722	Missense_Mutation	SNP	T	TCGA-36-2545-01A-01D-1526-09	20898526	115420722	133829899	5	21470											
IVL	3713	genome.wustl.edu	37	1	152882688	152882688	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:152882688G>C	ENST00000368764.3	+	2	479	c.415G>C	c.(415-417)Gtc>Ctc	p.V139L	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	139					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAAGAGCTAGTCAAGAGAGA	0.507																																																0			1											62	66	65					1																	152882688		2203	4300	6503	151149312	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.415G>C	1.37:g.152882688G>C	ENSP00000357753:p.Val139Leu		151149312	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027636	0.35797	.	.	ENSG00000163207	ENST00000368764	T	0.09723	2.95	4.54	0.274	0.15654	.	.	.	.	.	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	0.999999	B	0.16603	0.018	B	0.13407	0.009	T	0.46952	-0.9154	9	0.27082	T	0.32	.	9.6956	0.40156	0.089:0.5269:0.3841:0.0	.	139	P07476	INVO_HUMAN	L	139	ENSP00000357753:V139L	ENSP00000357753:V139L	V	+	1	0	IVL	151149312	0.000000	0.05858	0.000000	0.03702	0.582000	0.36321	-0.618000	0.05578	-0.035000	0.13691	0.436000	0.28706	GTC		0.507	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		C	152882688	G	C	152882688	3	2	394	1	0	0	0	0	1	0	0	0	7929	1029	36	3	417	3	IVL	1	152882688	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	37461966	152882688	96367933	6	21471											
NTRK1	4914	genome.wustl.edu	37	1	156845442	156845442	+	Silent	SNP	A	A	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:156845442A>G	ENST00000524377.1	+	12	1526	c.1485A>G	c.(1483-1485)caA>caG	p.Q495Q	NTRK1_ENST00000368196.3_Silent_p.Q489Q|NTRK1_ENST00000392302.2_Silent_p.Q459Q|NTRK1_ENST00000358660.3_Silent_p.Q489Q	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	495					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGAACCCACAATACTTCAGTG	0.577			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0			1											97	77	84					1																	156845442		2203	4300	6503	155112066	SO:0001819	synonymous_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1485A>G	1.37:g.156845442A>G			155112066	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	CCDS1161.1																																																																																				0.577	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		G	156845442	A	G	156845442	2	3	394	1	0	0	0	0	0	0	0	1	10706	98	4	4		4	NTRK1	1	156845442	Silent	SNP	A	TCGA-36-2545-01A-01D-1526-09	3962754	156845442	92405179	7	21472											
RC3H1	149041	genome.wustl.edu	37	1	173962001	173962001	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:173962001G>C	ENST00000367696.2	-	2	474	c.123C>G	c.(121-123)tgC>tgG	p.C41W	RC3H1_ENST00000258349.4_Missense_Mutation_p.C41W|RC3H1_ENST00000367694.2_Missense_Mutation_p.C41W			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	41					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GTTTATTCAGGCACATCTTGC	0.502																																																0			1											161	140	147					1																	173962001		2203	4300	6503	172228624	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.123C>G	1.37:g.173962001G>C	ENSP00000356669:p.Cys41Trp		172228624	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324816	0.81580	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.99680	-6.38;-6.38;-6.38	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.98721	4.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.998;1.0	D	0.96452	0.9335	10	0.87932	D	0	-9.8157	19.7923	0.96464	0.0:0.0:1.0:0.0	.	41;41;41;41	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	W	41	ENSP00000356669:C41W;ENSP00000258349:C41W;ENSP00000356667:C41W	ENSP00000258349:C41W	C	-	3	2	RC3H1	172228624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.693000	0.91896	0.655000	0.94253	TGC		0.502	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		C	173962001	G	C	173962001	3	2	394	1	0	0	0	0	1	0	0	0	13169	1195	42	3	3354	3	RC3H1	1	173962001	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	17116559	173962001	75288620	8	21473											
TNN	63923	genome.wustl.edu	37	1	175063337	175063337	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:175063337G>C	ENST00000239462.4	+	7	1649	c.1536G>C	c.(1534-1536)tgG>tgC	p.W512C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	512	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCTACGTGTGGGCTGAAAGGG	0.552																																																0			1											93	73	80					1																	175063337		2203	4300	6503	173329960	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1536G>C	1.37:g.175063337G>C	ENSP00000239462:p.Trp512Cys		173329960	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284236	0.59867	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.56611	0.45	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.277119	0.31199	N	0.008077	T	0.76884	0.4050	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.994	T	0.79401	-0.1819	10	0.38643	T	0.18	.	16.3603	0.83259	0.0:0.0:1.0:0.0	.	512;512	B3KXB6;Q9UQP3	.;TENN_HUMAN	C	512	ENSP00000239462:W512C	ENSP00000239462:W512C	W	+	3	0	TNN	173329960	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	5.296000	0.65698	2.377000	0.81083	0.563000	0.77884	TGG		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		C	175063337	G	C	175063337	3	2	394	1	0	0	0	0	1	0	0	0	16323	1241	43	3	1558	3	TNN	1	175063337	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	1101336	175063337	74187284	9	21474											
TOR3A	64222	genome.wustl.edu	37	1	179057054	179057054	+	Silent	SNP	G	G	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr1:179057054G>A	ENST00000367627.3	+	4	1400	c.648G>A	c.(646-648)ctG>ctA	p.L216L	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.L216L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	216					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGGAGCAGCTGATGAGCCAGA	0.622																																																0			1											37	40	39					1																	179057054		2203	4300	6503	177323677	SO:0001819	synonymous_variant	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.648G>A	1.37:g.179057054G>A			177323677	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	ENST00000367627.3	37	CCDS1329.1																																																																																				0.622	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		A	179057054	G	A	179057054	2	1	394	1	0	0	0	0	0	0	0	1	16376	1277	45	2		2	TOR3A	1	179057054	Silent	SNP	G	TCGA-36-2545-01A-01D-1526-09	3993717	179057054	70193567	10	21475											
ANKRD53	79998	genome.wustl.edu	37	2	71206928	71206928	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr2:71206928C>G	ENST00000360589.3	+	3	589	c.555C>G	c.(553-555)gaC>gaG	p.D185E	ANKRD53_ENST00000272421.6_Missense_Mutation_p.D185E|ANKRD53_ENST00000441349.1_Missense_Mutation_p.D151E|ANKRD53_ENST00000457410.1_Missense_Mutation_p.D151E|AC007040.11_ENST00000606025.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	185										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TCCACAGGGACAACACCACCG	0.597																																																0			2											159	107	125					2																	71206928		2203	4300	6503	71060436	SO:0001583	missense	79998			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.555C>G	2.37:g.71206928C>G	ENSP00000353796:p.Asp185Glu		71060436	Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734047	0.30684	.	.	ENSG00000144031	ENST00000272421;ENST00000441349;ENST00000457410;ENST00000360589	T;T;T;T	0.71579	1.49;-0.58;1.49;1.49	4.88	2.91	0.33838	Ankyrin repeat-containing domain (4);	0.394290	0.23060	N	0.052392	T	0.47377	0.1442	N	0.12182	0.205	0.22666	N	0.998879	P;B;P	0.40398	0.716;0.316;0.607	B;B;B	0.35931	0.194;0.214;0.12	T	0.45454	-0.9260	10	0.72032	D	0.01	-25.3195	7.5905	0.28019	0.1887:0.6288:0.1825:0.0	.	151;185;185	C9JQK2;Q8N9V6;Q8N9V6-2	.;ANR53_HUMAN;.	E	185;151;151;185	ENSP00000272421:D185E;ENSP00000388883:D151E;ENSP00000407004:D151E;ENSP00000353796:D185E	ENSP00000272421:D185E	D	+	3	2	ANKRD53	71060436	0.999000	0.42202	0.823000	0.32752	0.034000	0.12701	1.053000	0.30442	1.171000	0.42768	0.650000	0.86243	GAC		0.597	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		G	71206928	C	G	71206928	3	3	394	1	0	0	0	0	1	0	0	0	679	477	17	3	565	3	ANKRD53	2	71206928	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09		71206928	171992445	11	21476											
MPHOSPH10	10199	genome.wustl.edu	37	2	71376573	71376573	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr2:71376573C>T	ENST00000244230.2	+	10	2238	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	629					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGCAAAGCTTCCTTCATAAAG	0.458																																																0			2											63	61	61					2																	71376573		2203	4300	6503	71230081	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1886C>T	2.37:g.71376573C>T	ENSP00000244230:p.Ser629Phe		71230081	A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599243	0.46318	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10573	2.86;2.86	5.62	3.84	0.44239	.	0.442567	0.24065	N	0.041866	T	0.19167	0.0460	M	0.70275	2.135	0.09310	N	1	P	0.45212	0.853	P	0.49853	0.624	T	0.04870	-1.0921	10	0.46703	T	0.11	.	8.042	0.30527	0.0:0.7528:0.0:0.2472	.	629	O00566	MPP10_HUMAN	F	629;489	ENSP00000244230:S629F;ENSP00000393034:S489F	ENSP00000244230:S629F	S	+	2	0	MPHOSPH10	71230081	0.005000	0.15991	0.001000	0.08648	0.114000	0.19823	2.032000	0.41127	0.874000	0.35823	0.563000	0.77884	TCC		0.458	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		T	71376573	C	T	71376573	3	4	394	1	0	0	0	0	1	0	0	0	9725	855	30	2	1924	2	MPHOSPH10	2	71376573	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09	169645	71376573	171822800	12	21477											
DCTN1	1639	genome.wustl.edu	37	2	74592301	74592301	+	Missense_Mutation	SNP	G	G	C	rs541856964		TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr2:74592301G>C	ENST00000361874.3	-	26	3414	c.3097C>G	c.(3097-3099)Cta>Gta	p.L1033V	DCTN1_ENST00000407639.2_Missense_Mutation_p.L899V|DCTN1_ENST00000409567.3_Missense_Mutation_p.L1013V|DCTN1_ENST00000409868.1_Missense_Mutation_p.L1016V|DCTN1_ENST00000409240.1_Missense_Mutation_p.L996V|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Missense_Mutation_p.L899V|DCTN1_ENST00000394003.3_Missense_Mutation_p.L1026V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1033					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CGCTGCTTTAGTTCTGCCTTC	0.557																																																0			2											131	117	122					2																	74592301		2203	4300	6503	74445809	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3097C>G	2.37:g.74592301G>C	ENSP00000354791:p.Leu1033Val		74445809	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929462	0.73327	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78481	-1.06;-1.06;-1.18;-1.18;-1.06;-1.18;-1.06	5.03	4.13	0.48395	.	0.000000	0.34777	N	0.003681	D	0.85725	0.5763	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;0.999;0.993;0.999;1.0;0.996	P;D;D;D;D;D	0.76575	0.837;0.975;0.952;0.988;0.969;0.978	D	0.86786	0.1982	10	0.72032	D	0.01	-4.1455	11.5734	0.50848	0.0908:0.0:0.9092:0.0	.	1013;996;1033;1026;899;899	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	V	1033;1026;1016;899;899;996;1016;1013	ENSP00000354791:L1033V;ENSP00000377571:L1026V;ENSP00000384844:L899V;ENSP00000387270:L899V;ENSP00000386406:L996V;ENSP00000387327:L1016V;ENSP00000386843:L1013V	ENSP00000354791:L1033V	L	-	1	2	DCTN1	74445809	1.000000	0.71417	0.994000	0.49952	0.715000	0.41141	7.520000	0.81821	1.440000	0.47531	0.561000	0.74099	CTA		0.557	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		C	74592301	G	C	74592301	3	2	394	1	0	0	0	0	1	0	0	0	4306	1020	36	3	767	3	DCTN1	2	74592301	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	3215728	74592301	168607072	13	21478											
TEKT4	150483	genome.wustl.edu	37	2	95541370	95541370	+	Missense_Mutation	SNP	C	C	T	rs112344899		TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr2:95541370C>T	ENST00000295201.4	+	5	1111	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	325					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACAACGTGGCGGCACTGAAG	0.607													.|||	1	0.000199681	0	0	5008	,	,		20016	0.001		0	False		,,,				2504	0															0			2											194	161	172					2																	95541370		2203	4300	6503	94905097	SO:0001583	missense	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.974C>T	2.37:g.95541370C>T	ENSP00000295201:p.Ala325Val		94905097		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	.	2.496	-0.316380	0.05422	.	.	ENSG00000163060	ENST00000295201	T	0.02579	4.24	2.47	0.0321	0.14174	.	0.390516	0.24975	N	0.034109	T	0.01800	0.0057	N	0.26162	0.8	0.09310	N	1	B	0.30439	0.279	B	0.20577	0.03	T	0.47761	-0.9092	10	0.33940	T	0.23	-16.8492	5.7335	0.18053	0.2129:0.5766:0.2105:0.0	.	325	Q8WW24	TEKT4_HUMAN	V	325	ENSP00000295201:A325V	ENSP00000295201:A325V	A	+	2	0	TEKT4	94905097	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.696000	0.05104	0.323000	0.23307	0.465000	0.42564	GCG		0.607	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		T	95541370	C	T	95541370	3	4	394	1	0	0	0	0	1	0	0	0	15755	768	27	1	992	1	TEKT4	2	95541370	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09	20949069	95541370	147658003	14	21479											
FAM119A	151194	genome.wustl.edu	37	2	208477892	208477892	+	Missense_Mutation	SNP	G	G	A	rs374826319		TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr2:208477892G>A	ENST00000411432.1	-	4	751	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000426075.1_Missense_Mutation_p.R179W|METTL21A_ENST00000442521.1_Missense_Mutation_p.R179W|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.R179W|METTL21A_ENST00000272839.3_Missense_Mutation_p.R197W|METTL21A_ENST00000406927.2_Missense_Mutation_p.R179W|METTL21A_ENST00000448823.2_3'UTR	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	179					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						TTGTTATCCCGTTCATAGCGA	0.388																																																0			2						G	TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	150	150	150		535,535	5.3	1	2		150	0,8600		0,0,4300	no	missense,missense	METTL21A	NM_001127395.1,NM_145280.4	101,101	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	179/219,179/219	208477892	4,13002	2203	4300	6503	208186137	SO:0001583	missense	151194			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.535C>T	2.37:g.208477892G>A	ENSP00000415115:p.Arg179Trp		208186137	Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119134	0.94385	9.08E-4	0.0	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	5.26	5.26	0.73747	.	0.057480	0.64402	D	0.000001	T	0.51075	0.1653	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58736	-0.7584	10	0.72032	D	0.01	-18.0578	19.0594	0.93081	0.0:0.0:1.0:0.0	.	179	Q8WXB1	MT21A_HUMAN	W	179;179;197;179;179;179	ENSP00000415115:R179W;ENSP00000407622:R179W;ENSP00000272839:R197W;ENSP00000385481:R179W;ENSP00000403317:R179W;ENSP00000392062:R179W	ENSP00000272839:R197W	R	-	1	2	METTL21A	208186137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.546000	0.82137	2.750000	0.94351	0.561000	0.74099	CGG		0.388	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		A	208477892	G	A	208477892	3	1	394	1	0	0	0	0	1	0	0	0	5413	1144	40	1	125	1	FAM119A	2	208477892	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	112936522	208477892	34721481	15	21480											
ARPC2	10109	genome.wustl.edu	37	2	219103497	219103497	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr2:219103497A>G	ENST00000295685.10	+	5	640	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E	ARPC2_ENST00000315717.5_Missense_Mutation_p.K127E|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	127					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TGTCTTTGAAAAATACTTCCA	0.418																																																0			2											114	112	113					2																	219103497		2203	4300	6503	218811742	SO:0001583	missense	10109			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.379A>G	2.37:g.219103497A>G	ENSP00000295685:p.Lys127Glu		218811742	Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574066	0.86542	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.84511	2.7	0.80722	D	1	P	0.41131	0.739	B	0.39935	0.314	T	0.75294	-0.3368	9	0.62326	D	0.03	.	15.8062	0.78513	1.0:0.0:0.0:0.0	.	127	O15144	ARPC2_HUMAN	E	127	.	ENSP00000295685:K127E	K	+	1	0	ARPC2	218811742	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.139000	0.94554	2.317000	0.78254	0.460000	0.39030	AAA		0.418	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		G	219103497	A	G	219103497	3	3	394	1	0	0	0	0	1	0	0	0	971	15	1	4	397	4	ARPC2	2	219103497	Missense_Mutation	SNP	A	TCGA-36-2545-01A-01D-1526-09	10625605	219103497	24095876	16	21481											
STAB1	23166	genome.wustl.edu	37	3	52548846	52548846	+	Splice_Site	SNP	G	G	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr3:52548846G>T	ENST00000321725.6	+	35	3883		c.e35+1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCCCTGCGGGTGAGAGGCTG	0.682																																																0			3											32	37	35					3																	52548846		2203	4299	6502	52523886	SO:0001630	splice_region_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3807+1G>T	3.37:g.52548846G>T			52523886	A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320026	0.81469	.	.	ENSG00000010327	ENST00000321725	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3771	0.74615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB1	52523886	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.139000	0.58024	2.709000	0.92574	0.561000	0.74099	.		0.682	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Intron	T	52548846	G	T	52548846	5	4	394	1	0	0	0	0	0	0	1	0	15239	1275	44	3	3946	3	STAB1	3	52548846	Splice_Site	SNP	G	TCGA-36-2545-01A-01D-1526-09		52548846	145473584	17	21482											
C3orf64	285203	genome.wustl.edu	37	3	69026887	69026887	+	Missense_Mutation	SNP	G	G	A	rs199832969		TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr3:69026887G>A	ENST00000383701.3	-	18	2208	c.1466C>T	c.(1465-1467)cCg>cTg	p.P489L	EOGT_ENST00000540764.1_Missense_Mutation_p.P388L|EOGT_ENST00000295571.5_Missense_Mutation_p.P405L|EOGT_ENST00000540955.1_Missense_Mutation_p.P213L	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	489					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										GGTGAACTTCGGGTGCTCCCC	0.443																																																0			3											70	70	70					3																	69026887		2203	4300	6503	69109577	SO:0001583	missense	285203			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1466C>T	3.37:g.69026887G>A	ENSP00000373206:p.Pro489Leu		69109577	A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37		.	.	.	.	.	.	.	.	.	.	G	16.76	3.213462	0.58452	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540955;ENST00000540764	.	.	.	5.52	4.63	0.57726	.	0.094428	0.85682	D	0.000000	T	0.50360	0.1611	L	0.52364	1.645	0.80722	D	1	P;P	0.44429	0.694;0.835	B;B	0.38327	0.061;0.271	T	0.47649	-0.9101	9	0.23302	T	0.38	-9.8243	15.6493	0.77078	0.0:0.0:0.8616:0.1384	.	489;405	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	L	489;405;213;388	.	ENSP00000295571:P405L	P	-	2	0	C3orf64	69109577	1.000000	0.71417	0.859000	0.33776	0.967000	0.64934	7.873000	0.87193	1.319000	0.45190	0.591000	0.81541	CCG		0.443	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		A	69026887	G	A	69026887	3	1	394	1	0	0	0	0	1	0	0	0	2240	1116	39	1	121	1	C3orf64	3	69026887	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	16478041	69026887	128995543	18	21483											
GOLIM4	27333	genome.wustl.edu	37	3	167766100	167766100	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr3:167766100C>G	ENST00000470487.1	-	2	930	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E81Q	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	81	Endosome targeting.|Golgi targeting.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTTTATGTTCAAGTCTTTCT	0.274																																																0			3											144	139	141					3																	167766100		2198	4296	6494	169248794	SO:0001583	missense	27333			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.241G>C	3.37:g.167766100C>G	ENSP00000417354:p.Glu81Gln		169248794		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555778	0.86231	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.82724	0.5099	M	0.79475	2.455	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83567	0.0110	9	0.52906	T	0.07	-20.9023	19.1363	0.93429	0.0:1.0:0.0:0.0	.	81;81	F8W785;O00461	.;GOLI4_HUMAN	Q	81	.	ENSP00000309893:E81Q	E	-	1	0	GOLIM4	169248794	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.683000	0.74533	2.587000	0.87381	0.549000	0.68633	GAA		0.274	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			G	167766100	C	G	167766100	3	3	394	1	0	0	0	0	1	0	0	0	6566	835	29	3	1909	3	GOLIM4	3	167766100	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09	98739213	167766100	30256330	19	21484											
GPLD1	2822	genome.wustl.edu	37	6	24429276	24429276	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr6:24429276C>G	ENST00000230036.1	-	25	2617	c.2507G>C	c.(2506-2508)aGc>aCc	p.S836T		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	836					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGAGCCAAGGCTATAGACGTG	0.502																																																0			6											100	90	93					6																	24429276		2203	4300	6503	24537255	SO:0001583	missense	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2507G>C	6.37:g.24429276C>G	ENSP00000230036:p.Ser836Thr		24537255	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	0.915	-0.717745	0.03182	.	.	ENSG00000112293	ENST00000230036	T	0.66099	-0.19	5.29	0.712	0.18167	.	0.738516	0.13394	N	0.391168	T	0.25269	0.0614	L	0.46157	1.445	0.09310	N	0.999996	B	0.13594	0.008	B	0.11329	0.006	T	0.16630	-1.0396	10	0.21540	T	0.41	-15.4083	3.8501	0.08951	0.0:0.3486:0.1879:0.4635	.	836	P80108	PHLD_HUMAN	T	836	ENSP00000230036:S836T	ENSP00000230036:S836T	S	-	2	0	GPLD1	24537255	0.394000	0.25246	0.071000	0.20095	0.065000	0.16274	0.025000	0.13577	0.232000	0.21100	-0.176000	0.13171	AGC		0.502	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		G	24429276	C	G	24429276	3	3	394	1	0	0	0	0	1	0	0	0	6614	797	28	3	19	3	GPLD1	6	24429276	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09		24429276	146685791	20	21485											
BAT2	7916	genome.wustl.edu	37	6	31602070	31602070	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr6:31602070G>C	ENST00000376033.2	+	19	5011	c.4777G>C	c.(4777-4779)Ggc>Cgc	p.G1593R	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G1593R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1593	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGAGGGCCCAGGCCCTCAGGC	0.527																																																0			6											219	285	262					6																	31602070		1511	2709	4220	31710049	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4777G>C	6.37:g.31602070G>C	ENSP00000365201:p.Gly1593Arg		31710049	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706778	0.30232	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01685	4.69;4.69	5.31	3.39	0.38822	.	0.416065	0.23418	N	0.048391	T	0.00784	0.0026	N	0.22421	0.69	0.31039	N	0.716541	P	0.38195	0.622	B	0.41271	0.352	T	0.51100	-0.8748	10	0.87932	D	0	-6.9137	9.0427	0.36327	0.1884:0.0:0.8116:0.0	.	1593	P48634	PRC2A_HUMAN	R	1587;1576;1593;1593;818	ENSP00000365175:G1593R;ENSP00000365201:G1593R	ENSP00000365175:G1593R	G	+	1	0	PRRC2A	31710049	0.928000	0.31464	1.000000	0.80357	0.989000	0.77384	1.392000	0.34486	1.485000	0.48380	0.561000	0.74099	GGC		0.527	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		C	31602070	G	C	31602070	3	2	394	1	0	0	0	0	1	0	0	0	1319	1000	35	3	4847	3	BAT2	6	31602070	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	7172794	31602070	139512997	21	21486											
PPARD	5467	genome.wustl.edu	37	6	35393750	35393750	+	Missense_Mutation	SNP	G	G	A	rs372497373		TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr6:35393750G>A	ENST00000311565.4	+	9	1569	c.1220G>A	c.(1219-1221)cGg>cAg	p.R407Q	PPARD_ENST00000418635.2_Missense_Mutation_p.R309Q|PPARD_ENST00000540939.1_Missense_Mutation_p.R304Q|PPARD_ENST00000448077.2_Missense_Mutation_p.R368Q|PPARD_ENST00000360694.3_Missense_Mutation_p.R407Q	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	407	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GCTGACCTGCGGCAACTGGTC	0.597																																																0			6											101	89	93					6																	35393750		2203	4300	6503	35501728	SO:0001583	missense	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1220G>A	6.37:g.35393750G>A	ENSP00000310928:p.Arg407Gln		35501728	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646574	0.96704	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.05	5.05	0.67936	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.112610	0.64402	D	0.000009	D	0.94528	0.8238	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66351	0.943;0.943;0.943	D	0.96340	0.9250	10	0.87932	D	0	.	18.4266	0.90611	0.0:0.0:1.0:0.0	.	309;368;407	E9PE18;B7Z3W1;Q03181	.;.;PPARD_HUMAN	Q	368;407;309;407;304	ENSP00000414372:R368Q;ENSP00000353916:R407Q;ENSP00000413314:R309Q;ENSP00000310928:R407Q;ENSP00000443759:R304Q	ENSP00000310928:R407Q	R	+	2	0	PPARD	35501728	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.823000	0.99369	2.340000	0.79590	0.561000	0.74099	CGG		0.597	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		A	35393750	G	A	35393750	3	1	394	1	0	0	0	0	1	0	0	0	12298	1116	39	1	1267	1	PPARD	6	35393750	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	3791680	35393750	135721317	22	21487											
C6orf138	442213	genome.wustl.edu	37	6	47846634	47846634	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr6:47846634A>G	ENST00000339488.4	-	3	1979	c.1946T>C	c.(1945-1947)tTc>tCc	p.F649S		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	649						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ATGGTCCATGAAGACAAAGGA	0.468																																																0			6											163	154	157					6																	47846634		2203	4300	6503	47954593	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1946T>C	6.37:g.47846634A>G	ENSP00000341914:p.Phe649Ser		47954593	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426843	0.62733	.	.	ENSG00000244694	ENST00000339488	D	0.89050	-2.46	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93290	0.6667	10	0.87932	D	0	.	16.35	0.83199	1.0:0.0:0.0:0.0	.	649	Q6ZW05	CF138_HUMAN	S	649	ENSP00000341914:F649S	ENSP00000341914:F649S	F	-	2	0	C6orf138	47954593	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.982000	0.76173	2.270000	0.75569	0.528000	0.53228	TTC		0.468	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		G	47846634	A	G	47846634	3	3	394	1	0	0	0	0	1	0	0	0	2332	246	9	4	598	4	C6orf138	6	47846634	Missense_Mutation	SNP	A	TCGA-36-2545-01A-01D-1526-09	12452884	47846634	123268433	23	21488											
SDK1	221935	genome.wustl.edu	37	7	4002369	4002369	+	Missense_Mutation	SNP	G	G	A	rs148919634		TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr7:4002369G>A	ENST00000404826.2	+	9	1454	c.1315G>A	c.(1315-1317)Gcc>Acc	p.A439T	SDK1_ENST00000389531.3_Missense_Mutation_p.A439T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	439	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAAAGTGCTCGCCAGCGGAGG	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		20289	0		0	False		,,,				2504	0															0			7						G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	48	44	45		1315	-10.7	0	7	dbSNP_134	45	0,8600		0,0,4300	yes	missense	SDK1	NM_152744.3	58	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	439/2214	4002369	4,13002	2203	4300	6503	3968895	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1315G>A	7.37:g.4002369G>A	ENSP00000385899:p.Ala439Thr		3968895	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	2.215	-0.379694	0.05000	9.08E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.67698	-0.28;-0.28	5.34	-10.7	0.00240	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.537810	0.03722	N	0.251993	T	0.42854	0.1221	N	0.25332	0.735	0.09310	N	1	B	0.24368	0.102	B	0.14578	0.011	T	0.13255	-1.0516	10	0.13470	T	0.59	.	7.1979	0.25864	0.1217:0.354:0.3899:0.1344	.	439	Q7Z5N4	SDK1_HUMAN	T	439	ENSP00000385899:A439T;ENSP00000374182:A439T	ENSP00000374182:A439T	A	+	1	0	SDK1	3968895	0.000000	0.05858	0.000000	0.03702	0.578000	0.36192	-2.298000	0.01140	-2.963000	0.00289	-0.271000	0.10264	GCC		0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4002369	G	A	4002369	3	1	394	1	0	0	0	0	1	0	0	0	13971	1087	38	1	1349	1	SDK1	7	4002369	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09		4002369	155136294	24	21489											
SLC26A5	375611	genome.wustl.edu	37	7	103029841	103029841	+	Silent	SNP	G	G	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr7:103029841G>A	ENST00000306312.3	-	13	1603	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	SLC26A5_ENST00000393730.1_Intron|SLC26A5_ENST00000339444.6_Silent_p.L448L|SLC26A5_ENST00000432958.2_Intron|SLC26A5_ENST00000393735.2_Silent_p.L448L|SLC26A5_ENST00000393727.1_Silent_p.L448L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Intron|SLC26A5_ENST00000393729.1_Silent_p.L411L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	448					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTCCCTTCAGGTTGACAATC	0.478																																																0			7											150	131	137					7																	103029841		2203	4300	6503	102817077	SO:0001819	synonymous_variant	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1342C>T	7.37:g.103029841G>A			102817077	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	CCDS5733.1																																																																																				0.478	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		A	103029841	G	A	103029841	2	1	394	1	0	0	0	0	0	0	0	1	14523	991	35	2		2	SLC26A5	7	103029841	Silent	SNP	G	TCGA-36-2545-01A-01D-1526-09	99027472	103029841	56108822	25	21490											
ASB10	136371	genome.wustl.edu	37	7	150884201	150884201	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr7:150884201G>C	ENST00000420175.2	-	1	41	c.17C>G	c.(16-18)tCt>tGt	p.S6C	ASB10_ENST00000422024.1_Missense_Mutation_p.S51C|ASB10_ENST00000377867.3_Intron|ASB10_ENST00000275838.1_Missense_Mutation_p.S6C|ASB10_ENST00000434669.1_Missense_Mutation_p.S51C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	6					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCTTCTGGAGACCAACTCAT	0.592																																																0			7											25	20	22					7																	150884201		2203	4298	6501	150515134	SO:0001583	missense	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.17C>G	7.37:g.150884201G>C	ENSP00000391137:p.Ser6Cys		150515134	A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265570	0.40095	.	.	ENSG00000146926	ENST00000275838;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T	0.70749	-0.45;-0.48;-0.51;-0.43	4.51	3.6	0.41247	.	.	.	.	.	T	0.55862	0.1947	N	0.24115	0.695	0.24421	N	0.994619	B;P	0.40000	0.214;0.698	B;B	0.37198	0.241;0.243	T	0.49643	-0.8918	9	0.72032	D	0.01	-4.7773	9.9816	0.41817	0.0:0.0:0.7974:0.2026	.	6;51	Q8WXI3;D5MNW9	ASB10_HUMAN;.	C	6;51;51;6	ENSP00000275838:S6C;ENSP00000401369:S51C;ENSP00000398247:S51C;ENSP00000391137:S6C	ENSP00000275838:S6C	S	-	2	0	ASB10	150515134	0.829000	0.29322	0.965000	0.40720	0.679000	0.39708	1.459000	0.35234	0.972000	0.38314	0.591000	0.81541	TCT		0.592	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		C	150884201	G	C	150884201	3	2	394	1	0	0	0	0	1	0	0	0	1014	942	33	3	1406	3	ASB10	7	150884201	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	47854360	150884201	8254462	26	21491											
KIAA1967	57805	genome.wustl.edu	37	8	22475937	22475937	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr8:22475937T>G	ENST00000308511.4	+	17	2398	c.2149T>G	c.(2149-2151)Tgt>Ggt	p.C717G	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000389279.3_Missense_Mutation_p.C717G|CCAR2_ENST00000520861.1_Missense_Mutation_p.C392G|BIN3_ENST00000519335.1_5'Flank			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	717	Interaction with NR1D1. {ECO:0000269|PubMed:23398316}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TGCCAACTGGTGTGGCTACTT	0.537																																																0			8											176	164	168					8																	22475937		2203	4300	6503	22531882	SO:0001583	missense	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2149T>G	8.37:g.22475937T>G	ENSP00000310670:p.Cys717Gly		22531882	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241658	0.79912	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861	T;T;T	0.00358	7.88;7.88;7.88	6.0	6.0	0.97389	.	0.141196	0.52532	D	0.000078	T	0.00666	0.0022	M	0.62723	1.935	0.48975	D	0.999737	D;D	0.76494	0.999;0.995	D;D	0.80764	0.994;0.979	D	0.84847	0.0811	10	0.39692	T	0.17	-11.1643	12.8965	0.58101	0.0:0.0:0.0:1.0	.	392;717	G3V119;Q8N163	.;K1967_HUMAN	G	717;717;392	ENSP00000310670:C717G;ENSP00000373930:C717G;ENSP00000429773:C392G	ENSP00000310670:C717G	C	+	1	0	KIAA1967	22531882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.317000	0.72862	2.297000	0.77311	0.533000	0.62120	TGT		0.537	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		G	22475937	T	G	22475937	3	3	394	1	0	0	0	0	1	0	0	0	8265	1696	59	5	2211	5	KIAA1967	8	22475937	Missense_Mutation	SNP	T	TCGA-36-2545-01A-01D-1526-09		22475937	123888085	27	21492											
CNGB3	54714	genome.wustl.edu	37	8	87588261	87588261	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr8:87588261C>A	ENST00000320005.5	-	18	2248	c.2201G>T	c.(2200-2202)gGa>gTa	p.G734V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	734					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						attttcttttcctttatcttc	0.358																																																0			8											168	173	171					8																	87588261		2203	4300	6503	87657377	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2201G>T	8.37:g.87588261C>A	ENSP00000316605:p.Gly734Val		87657377	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	0.819	-0.749328	0.03065	.	.	ENSG00000170289	ENST00000320005	T	0.61158	0.13	2.44	-3.15	0.05233	.	2.340680	0.01987	U	0.045256	T	0.39572	0.1083	N	0.19112	0.55	0.09310	N	1	B;B	0.24426	0.103;0.063	B;B	0.21546	0.035;0.016	T	0.12967	-1.0527	10	0.30854	T	0.27	.	5.6255	0.17480	0.0:0.4878:0.1488:0.3634	.	729;734	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	V	734	ENSP00000316605:G734V	ENSP00000316605:G734V	G	-	2	0	CNGB3	87657377	0.014000	0.17966	0.000000	0.03702	0.040000	0.13550	-0.628000	0.05515	-0.782000	0.04541	-1.595000	0.00837	GGA		0.358	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		A	87588261	C	A	87588261	3	1	394	1	0	0	0	0	1	0	0	0	3601	855	30	3	232	3	CNGB3	8	87588261	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09	65112324	87588261	58775761	28	21493											
EXT1	2131	genome.wustl.edu	37	8	119122970	119122970	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr8:119122970A>T	ENST00000378204.2	-	1	1122	c.316T>A	c.(316-318)Ttc>Atc	p.F106I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	106					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CAAAGGGTGAAATCGAAGCAG	0.498			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0			8											82	81	82					8																	119122970		2203	4300	6503	119192151	SO:0001583	missense	2131	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.316T>A	8.37:g.119122970A>T	ENSP00000367446:p.Phe106Ile		119192151	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199078	0.38806	.	.	ENSG00000182197	ENST00000378204	D	0.96168	-3.93	5.47	5.47	0.80525	.	0.110883	0.52532	D	0.000067	D	0.93926	0.8056	M	0.62723	1.935	0.48901	D	0.99972	B	0.26512	0.151	B	0.25291	0.059	D	0.92020	0.5625	10	0.37606	T	0.19	-1.0185	15.5438	0.76077	1.0:0.0:0.0:0.0	.	106	Q16394	EXT1_HUMAN	I	106	ENSP00000367446:F106I	ENSP00000367446:F106I	F	-	1	0	EXT1	119192151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.411000	0.52672	2.068000	0.61886	0.379000	0.24179	TTC		0.498	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		T	119122970	A	T	119122970	3	4	394	1	0	0	0	0	1	0	0	0	5323	14	1	5	1968	5	EXT1	8	119122970	Missense_Mutation	SNP	A	TCGA-36-2545-01A-01D-1526-09	31534709	119122970	27241052	29	21494											
TRPM3	80036	genome.wustl.edu	37	9	73218366	73218366	+	Silent	SNP	C	C	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr9:73218366C>T	ENST00000377111.2	-	19	2895	c.2652G>A	c.(2650-2652)ctG>ctA	p.L884L	TRPM3_ENST00000396292.4_Silent_p.L756L|TRPM3_ENST00000358082.3_Silent_p.L746L|TRPM3_ENST00000357533.2_Silent_p.L888L|TRPM3_ENST00000423814.3_Silent_p.L911L|TRPM3_ENST00000377110.3_Silent_p.L884L|TRPM3_ENST00000377106.1_Silent_p.L756L|TRPM3_ENST00000396280.5_Silent_p.L733L|TRPM3_ENST00000377105.1_Silent_p.L743L|TRPM3_ENST00000360823.2_Silent_p.L746L|TRPM3_ENST00000396285.1_Silent_p.L731L|TRPM3_ENST00000408909.2_Silent_p.L743L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	909					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAAGAGCATCAGGTATCCGA	0.507																																																0			9											94	78	83					9																	73218366		2203	4300	6503	72408186	SO:0001819	synonymous_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2652G>A	9.37:g.73218366C>T			72408186	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	C	9.333	1.060922	0.19987	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.59	3.72	0.42706	.	.	.	.	.	T	0.58250	0.2109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55088	-0.8195	4	.	.	.	-13.0801	8.3037	0.32029	0.0:0.6175:0.2527:0.1299	.	.	.	.	N	733	.	.	D	-	1	0	TRPM3	72408186	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.136000	0.42121	1.340000	0.45581	-0.236000	0.12185	GAT		0.507	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		T	73218366	C	T	73218366	2	4	394	1	0	0	0	0	0	0	0	1	16587	813	29	2		2	TRPM3	9	73218366	Silent	SNP	C	TCGA-36-2545-01A-01D-1526-09		73218366	67995065	30	21495											
PHYHD1	254295	genome.wustl.edu	37	9	131703970	131703970	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr9:131703970C>A	ENST00000372592.3	+	13	1787	c.854C>A	c.(853-855)cCc>cAc	p.P285H	PHYHD1_ENST00000421063.2_Missense_Mutation_p.P264H|PHYHD1_ENST00000487504.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Intron|PHYHD1_ENST00000308941.5_Missense_Mutation_p.P278T|PHYHD1_ENST00000353176.5_Missense_Mutation_p.P264H	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	285							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						GCTGAACTGCCCTTTCCCCAA	0.607																																																0			9											75	66	69					9																	131703970		2203	4300	6503	130743791	SO:0001583	missense	254295			BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.854C>A	9.37:g.131703970C>A	ENSP00000361673:p.Pro285His		130743791	A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Missense_Mutation	SNP	ENST00000372592.3	37	CCDS43885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.630251|4.630251	0.87660|0.87660	.|.	.|.	ENSG00000175287|ENSG00000175287	ENST00000372592;ENST00000353176;ENST00000421063|ENST00000308941	D;D;D|.	0.90504|.	-2.68;-2.68;-2.68|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.055257|0.055257	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72003|0.72003	0.3407|0.3407	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	D;D|P	0.89917|0.51933	1.0;1.0|0.949	D;D|P	0.87578|0.51701	0.998;0.982|0.677	T|T	0.75944|0.75944	-0.3139|-0.3139	9|8	0.56958|0.87932	D|D	0.05|0	-14.3713|-14.3713	18.1634|18.1634	0.89717|0.89717	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	264;285|278	Q5SRE7-2;Q5SRE7|Q5SRE7-3	.;PHYD1_HUMAN|.	H|T	285;264;264|278	ENSP00000361673:P285H;ENSP00000340945:P264H;ENSP00000409928:P264H|.	ENSP00000340945:P264H|ENSP00000309515:P278T	P|P	+|+	2|1	0|0	PHYHD1|PHYHD1	130743791|130743791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	6.276000|6.276000	0.72601|0.72601	2.528000|2.528000	0.85240|0.85240	0.462000|0.462000	0.41574|0.41574	CCC|CCT		0.607	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933		A	131703970	C	A	131703970	3	1	394	1	0	0	0	0	1	0	0	0	11865	623	22	3	896	3	PHYHD1	9	131703970	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09	58485604	131703970	9509461	31	21496											
ZMYND19	116225	genome.wustl.edu	37	9	140481453	140481453	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr9:140481453G>A	ENST00000298585.2	-	4	551	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	ZMYND19_ENST00000471957.1_5'Flank	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	109						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		GCCTTGGGCCGCCAGCCCCAC	0.672																																																0			9											49	47	48					9																	140481453		2203	4300	6503	139601274	SO:0001583	missense	116225			BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"Zinc fingers, MYND-type"	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.325C>T	9.37:g.140481453G>A	ENSP00000298585:p.Arg109Trp		139601274	Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949657	0.73787	.	.	ENSG00000165724	ENST00000298585	.	.	.	4.92	2.83	0.33086	.	0.153517	0.56097	D	0.000029	T	0.36110	0.0955	L	0.29908	0.895	0.47009	D	0.99928	D	0.60575	0.988	P	0.47346	0.544	T	0.20438	-1.0275	9	0.72032	D	0.01	-18.1096	5.2555	0.15544	0.1116:0.0:0.5585:0.3299	.	109	Q96E35	ZMY19_HUMAN	W	109	.	ENSP00000298585:R109W	R	-	1	2	ZMYND19	139601274	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.403000	0.66338	1.214000	0.43395	0.655000	0.94253	CGG		0.672	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		A	140481453	G	A	140481453	3	1	394	1	0	0	0	0	1	0	0	0	17710	1086	38	1	370	1	ZMYND19	9	140481453	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	8777483	140481453	731978	32	21497											
AKR1C1	1645	genome.wustl.edu	37	10	5005701	5005701	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr10:5005701G>C	ENST00000380872.4	+	1	257	c.65G>C	c.(64-66)gGc>gCc	p.G22A	AKR1C1_ENST00000434459.2_Missense_Mutation_p.G22A|U8_ENST00000459095.1_RNA|AKR1C1_ENST00000380859.1_5'Flank|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	22					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	CTGGGATTTGGCACCTATGCG	0.448																																					Colon(130;2054 2316 13360 15380)											0			10											139	123	129					10																	5005701		2203	4297	6500	4995701	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.65G>C	10.37:g.5005701G>C	ENSP00000370254:p.Gly22Ala		4995701	P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	CCDS7061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.471877|3.471877	0.63737|0.63737	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000442997|ENST00000434459;ENST00000380872	.|D;D	.|0.95518	.|-3.73;-3.73	2.46|2.46	2.46|2.46	0.29980|0.29980	.|NADP-dependent oxidoreductase domain (3);	.|0.000000	.|0.64402	.|D	.|0.000020	D|D	0.97929|0.97929	0.9319|0.9319	H|H	0.95679|0.95679	3.705|3.705	0.40007|0.40007	D|D	0.975232|0.975232	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.995;0.995	D|D	0.97610|0.97610	1.0129|1.0129	5|10	.|0.87932	.|D	.|0	.|.	8.4186|8.4186	0.32687|0.32687	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|22;22;22	.|B4E0M1;Q2XPP3;Q04828	.|.;.;AK1C1_HUMAN	P|A	21|22	.|ENSP00000412248:G22A;ENSP00000370254:G22A	.|ENSP00000370254:G22A	A|G	+|+	1|2	0|0	AKR1C1|AKR1C1	4995701|4995701	1.000000|1.000000	0.71417|0.71417	0.161000|0.161000	0.22692|0.22692	0.452000|0.452000	0.32318|0.32318	3.113000|3.113000	0.50376|0.50376	1.378000|1.378000	0.46305|0.46305	0.305000|0.305000	0.20034|0.20034	GCA|GGC		0.448	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		C	5005701	G	C	5005701	3	2	394	1	0	0	0	0	1	0	0	0	469	1203	42	3	67	3	AKR1C1	10	5005701	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09		5005701	130529046	33	21498											
FEN1	746	genome.wustl.edu	37	11	61562915	61562915	+	5'Flank	SNP	G	G	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr11:61562915G>T	ENST00000537328.1	-	0	0				FEN1_ENST00000305885.2_Missense_Mutation_p.G28C|FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank|MIR611_ENST00000384869.1_RNA	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											GAGCTACTTTGGCCGTAAGGT	0.532																																																0			11											78	70	73					11																	61562915		2202	4299	6501	61319491	SO:0001631	upstream_gene_variant	2237				CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 10"	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61562915G>T	Exception_encountered		61319491	A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	ENST00000537328.1	37	CCDS8009.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266835	0.80469	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.58506	0.33;0.33	5.44	5.44	0.79542	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86418	0.5928	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91403	0.5145	10	0.87932	D	0	-25.2484	19.6661	0.95893	0.0:0.0:1.0:0.0	.	28	P39748	FEN1_HUMAN	C	28	ENSP00000305480:G28C;ENSP00000445692:G28C	ENSP00000305480:G28C	G	+	1	0	FEN1	61319491	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.478000	0.97927	2.724000	0.93272	0.561000	0.74099	GGC		0.532	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398577.1	NM_014206		T	61562915	G	T	61562915	1	4	394	0	1	0	0	0	0	0	0	0	5812	1348	47	3		3	FEN1	11	61562915	5'Flank	SNP	G	TCGA-36-2545-01A-01D-1526-09		61562915	73443601	34	21499											
ARHGEF17	9828	genome.wustl.edu	37	11	73078743	73078743	+	Missense_Mutation	SNP	G	G	C	rs146397383	byFrequency	TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr11:73078743G>C	ENST00000263674.3	+	21	6460	c.6110G>C	c.(6109-6111)cGa>cCa	p.R2037P		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2037					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGGACTTCCGACTCAGCAGT	0.637																																																0			11											104	99	101					11																	73078743		2200	4293	6493	72756391	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.6110G>C	11.37:g.73078743G>C	ENSP00000263674:p.Arg2037Pro		72756391	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754752	0.89843	.	.	ENSG00000110237	ENST00000263674	T	0.69806	-0.43	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	D	0.83399	0.5246	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85599	0.1251	10	0.87932	D	0	-8.1433	17.0443	0.86498	0.0:0.0:1.0:0.0	.	2037	Q96PE2	ARHGH_HUMAN	P	2037	ENSP00000263674:R2037P	ENSP00000263674:R2037P	R	+	2	0	ARHGEF17	72756391	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	7.534000	0.82004	2.617000	0.88574	0.561000	0.74099	CGA		0.637	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		C	73078743	G	C	73078743	3	2	394	1	0	0	0	0	1	0	0	0	900	1058	37	3	6192	3	ARHGEF17	11	73078743	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	11515828	73078743	61927773	35	21500											
SIK3	23387	genome.wustl.edu	37	11	116730119	116730119	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr11:116730119G>T	ENST00000292055.4	-	19	2344	c.2309C>A	c.(2308-2310)tCc>tAc	p.S770Y	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.S828Y|SIK3_ENST00000434315.2_Missense_Mutation_p.S669Y|SIK3_ENST00000375288.1_Missense_Mutation_p.S165Y|SIK3_ENST00000375300.1_Missense_Mutation_p.S828Y|SIK3_ENST00000542607.1_Missense_Mutation_p.S770Y	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	770	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCGCCCACTGGAGCCTGCAGC	0.602											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			11											84	72	76					11																	116730119		2201	4296	6497	116235329	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2309C>A	11.37:g.116730119G>T	ENSP00000292055:p.Ser770Tyr	1475	116235329	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916062	0.52546	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	T;T;T;T;T	0.72725	-0.64;-0.68;1.07;-0.65;-0.29	4.71	4.71	0.59529	.	0.857140	0.09494	U	0.794553	T	0.71745	0.3376	N	0.14661	0.345	0.19300	N	0.999972	D;P;D;D;P	0.67145	0.986;0.828;0.996;0.976;0.763	P;B;P;P;B	0.59703	0.814;0.34;0.862;0.656;0.421	T	0.67027	-0.5774	10	0.72032	D	0.01	.	15.6668	0.77236	0.0:0.0:1.0:0.0	.	770;770;669;770;165	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.;.;.;SIK3_HUMAN;.	Y	828;770;165;770;669	ENSP00000364449:S828Y;ENSP00000292055:S770Y;ENSP00000364437:S165Y;ENSP00000438108:S770Y;ENSP00000415873:S669Y	ENSP00000292055:S770Y	S	-	2	0	SIK3	116235329	0.862000	0.29867	0.143000	0.22291	0.569000	0.35902	4.553000	0.60753	2.527000	0.85204	0.561000	0.74099	TCC		0.602	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		T	116730119	G	T	116730119	3	4	394	1	0	0	0	0	1	0	0	0	14322	1174	41	3	1502	3	SIK3	11	116730119	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	43651376	116730119	18276397	36	21501											
SORL1	6653	genome.wustl.edu	37	11	121429447	121429447	+	Silent	SNP	T	T	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr11:121429447T>C	ENST00000260197.7	+	20	2940	c.2811T>C	c.(2809-2811)gaT>gaC	p.D937D		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	937					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTGGACGGATGCCTACCTGG	0.547																																																0			11											223	180	195					11																	121429447		2203	4299	6502	120934657	SO:0001819	synonymous_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2811T>C	11.37:g.121429447T>C			120934657	B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	CCDS8436.1																																																																																				0.547	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		C	121429447	T	C	121429447	2	2	394	1	0	0	0	0	0	0	0	1	14937	1461	51	4		4	SORL1	11	121429447	Silent	SNP	T	TCGA-36-2545-01A-01D-1526-09	4699328	121429447	13577069	37	21502											
FOXM1	2305	genome.wustl.edu	37	12	2973660	2973660	+	Splice_Site	SNP	C	C	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr12:2973660C>G	ENST00000359843.3	-	8	1160	c.1092G>C	c.(1090-1092)cgG>cgC	p.R364R	FOXM1_ENST00000361953.3_Splice_Site_p.R349R|FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Splice_Site_p.R364R	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	364					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TCATCTTCCGCCCTAGGAGGA	0.582																																																0			12											60	59	59					12																	2973660		2203	4300	6503	2843921	SO:0001630	splice_region_variant	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1091-1G>C	12.37:g.2973660C>G			2843921	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	C	8.385	0.838382	0.16891	.	.	ENSG00000111206	ENST00000535350	.	.	.	4.7	1.17	0.20885	.	.	.	.	.	T	0.52322	0.1727	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41288	-0.9517	4	.	.	.	.	6.0845	0.19960	0.0:0.1922:0.5168:0.2911	.	.	.	.	P	90	.	.	A	-	1	0	FOXM1	2843921	0.999000	0.42202	1.000000	0.80357	0.545000	0.35147	0.616000	0.24344	0.412000	0.25729	-0.221000	0.12465	GCG		0.582	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	Silent	G	2973660	C	G	2973660	5	3	394	1	0	0	0	0	0	0	1	0	6018	753	26	3	1325	3	FOXM1	12	2973660	Splice_Site	SNP	C	TCGA-36-2545-01A-01D-1526-09		2973660	130878235	38	21503											
ART4	420	genome.wustl.edu	37	12	14993570	14993570	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr12:14993570C>A	ENST00000228936.4	-	2	1043	c.662G>T	c.(661-663)gGg>gTg	p.G221V	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	221					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TGTCTGGTTCCCAAACTCCTG	0.488																																																0			12											108	109	109					12																	14993570		2203	4300	6503	14884837	SO:0001583	missense	420			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.662G>T	12.37:g.14993570C>A	ENSP00000228936:p.Gly221Val		14884837	Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	C	8.298	0.819287	0.16607	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.10668	2.85;2.85	4.35	-0.841	0.10752	.	0.220269	0.47093	N	0.000259	T	0.16257	0.0391	M	0.85542	2.76	0.30011	N	0.815191	P;D	0.53745	0.898;0.962	P;P	0.47346	0.544;0.544	T	0.09840	-1.0656	10	0.72032	D	0.01	-9.6206	3.8585	0.08985	0.286:0.4579:0.0:0.2561	.	221;221	A8K6J7;Q93070	.;NAR4_HUMAN	V	221;204	ENSP00000228936:G221V;ENSP00000405689:G204V	ENSP00000228936:G221V	G	-	2	0	ART4	14884837	0.388000	0.25197	0.001000	0.08648	0.238000	0.25445	0.791000	0.26915	-0.148000	0.11234	0.563000	0.77884	GGG		0.488	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		A	14993570	C	A	14993570	3	1	394	1	0	0	0	0	1	0	0	0	999	623	22	3	290	3	ART4	12	14993570	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09	12019910	14993570	118858325	39	21504											
METTL3	56339	genome.wustl.edu	37	14	21971365	21971365	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr14:21971365A>G	ENST00000298717.4	-	3	825	c.674T>C	c.(673-675)aTa>aCa	p.I225T	METTL3_ENST00000538267.1_Nonstop_Mutation_p.*154Q	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	225					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.I225R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGCTCTCTATCTCCAGATC	0.443																																																1	Substitution - Missense(1)	prostate(1)	14											182	174	177					14																	21971365		2203	4300	6503	21041205	SO:0001583	missense	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.674T>C	14.37:g.21971365A>G	ENSP00000298717:p.Ile225Thr		21041205	O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	CCDS32044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.89|17.89	3.500879|3.500879	0.64298|0.64298	.|.	.|.	ENSG00000165819|ENSG00000165819	ENST00000298717|ENST00000538267	T|.	0.30448|.	1.53|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59702|.	0.2213|.	M|M	0.69823|0.69823	2.125|2.125	0.18873|0.18873	N|N	0.999984|0.999984	D;D;P|.	0.76494|.	0.999;0.999;0.777|.	D;D;B|.	0.80764|.	0.991;0.994;0.391|.	T|.	0.55114|.	-0.8191|.	10|.	0.56958|.	D|.	0.05|.	-13.3899|-13.3899	14.4818|14.4818	0.67587|0.67587	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	225;225;225|.	B4E2F6;B4DTN4;Q86U44|.	.;.;MTA70_HUMAN|.	T|Q	225|154	ENSP00000298717:I225T|.	ENSP00000298717:I225T|.	I|X	-|-	2|1	0|0	METTL3|METTL3	21041205|21041205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.024000|8.024000	0.88770|0.88770	2.257000|2.257000	0.74773|0.74773	0.460000|0.460000	0.39030|0.39030	ATA|TAG		0.443	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		G	21971365	A	G	21971365	3	3	394	1	0	0	0	0	1	0	0	0	9501	449	16	4	1104	4	METTL3	14	21971365	Missense_Mutation	SNP	A	TCGA-36-2545-01A-01D-1526-09		21971365	85378175	40	21505											
DYNC1H1	1778	genome.wustl.edu	37	14	102476663	102476663	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr14:102476663G>A	ENST00000360184.4	+	31	6436	c.6272G>A	c.(6271-6273)cGg>cAg	p.R2091Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2091	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCGGTCTTCGGGCTTTGAAG	0.428																																																0			14											93	97	96					14																	102476663		2203	4300	6503	101546416	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6272G>A	14.37:g.102476663G>A	ENSP00000348965:p.Arg2091Gln		101546416	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	36	5.893712	0.97074	.	.	ENSG00000197102	ENST00000360184	T	0.67698	-0.28	5.61	5.61	0.85477	.	0.060705	0.64402	D	0.000003	D	0.89111	0.6622	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92532	0.6034	10	0.87932	D	0	.	19.6414	0.95758	0.0:0.0:1.0:0.0	.	2091	Q14204	DYHC1_HUMAN	Q	2091	ENSP00000348965:R2091Q	ENSP00000348965:R2091Q	R	+	2	0	DYNC1H1	101546416	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	9.807000	0.99171	2.655000	0.90218	0.650000	0.86243	CGG		0.428	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102476663	G	A	102476663	3	1	394	1	0	0	0	0	1	0	0	0	4841	1116	39	1	6394	1	DYNC1H1	14	102476663	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	80505298	102476663	4872877	41	21506											
ATP10A	57194	genome.wustl.edu	37	15	25925360	25925360	+	Silent	SNP	C	C	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr15:25925360C>T	ENST00000356865.6	-	20	3885	c.3774G>A	c.(3772-3774)ccG>ccA	p.P1258P		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1258					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAGGGTTGGACGGAGGATAGC	0.522																																																0			15											173	151	158					15																	25925360		2203	4300	6503	23476453	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3774G>A	15.37:g.25925360C>T			23476453	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.522	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		T	25925360	C	T	25925360	2	4	394	1	0	0	0	0	0	0	0	1	1116	523	19	1		1	ATP10A	15	25925360	Silent	SNP	C	TCGA-36-2545-01A-01D-1526-09		25925360	76606032	42	21507											
TGM7	116179	genome.wustl.edu	37	15	43584208	43584208	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr15:43584208A>C	ENST00000452443.2	-	4	531	c.527T>G	c.(526-528)tTc>tGc	p.F176C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	176					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGAGGTGATGAATCTTTCATG	0.502																																																0			15											103	87	93					15																	43584208		2201	4299	6500	41371500	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.527T>G	15.37:g.43584208A>C	ENSP00000389466:p.Phe176Cys		41371500		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.540093	0.45176	.	.	ENSG00000159495	ENST00000452443	D	0.88741	-2.42	5.5	0.458	0.16670	.	0.443663	0.29046	N	0.013313	T	0.76227	0.3958	N	0.14661	0.345	0.09310	N	1	P	0.52463	0.953	P	0.46975	0.533	T	0.68232	-0.5463	10	0.36615	T	0.2	-7.311	0.8854	0.01243	0.4022:0.2652:0.189:0.1436	.	176	Q96PF1	TGM7_HUMAN	C	176	ENSP00000389466:F176C	ENSP00000389466:F176C	F	-	2	0	TGM7	41371500	0.007000	0.16637	0.374000	0.26016	0.969000	0.65631	0.465000	0.22004	0.482000	0.27582	0.533000	0.62120	TTC		0.502	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		C	43584208	A	C	43584208	3	2	394	1	0	0	0	0	1	0	0	0	15835	246	9	5	1645	5	TGM7	15	43584208	Missense_Mutation	SNP	A	TCGA-36-2545-01A-01D-1526-09	17658848	43584208	58947184	43	21508											
UNKL	64718	genome.wustl.edu	37	16	1449440	1449440	+	Silent	SNP	G	G	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr16:1449440G>T	ENST00000389221.4	-	5	668	c.669C>A	c.(667-669)ggC>ggA	p.G223G	UNKL_ENST00000508903.2_Silent_p.G223G|UNKL_ENST00000503648.1_5'Flank|UNKL_ENST00000301712.5_Silent_p.G223G|UNKL_ENST00000397462.1_Silent_p.G326G	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	223					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGCACGCATAGCCCTGGCGGC	0.657																																																0			16											35	30	32					16																	1449440		2193	4295	6488	1389441	SO:0001819	synonymous_variant	64718			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.669C>A	16.37:g.1449440G>T			1389441	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Silent	SNP	ENST00000389221.4	37	CCDS53981.1																																																																																				0.657	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		T	1449440	G	T	1449440	2	4	394	1	0	0	0	0	0	0	0	1	17001	958	34	3		3	UNKL	16	1449440	Silent	SNP	G	TCGA-36-2545-01A-01D-1526-09		1449440	88905313	44	21509											
ABCA3	21	genome.wustl.edu	37	16	2349517	2349517	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr16:2349517T>G	ENST00000301732.5	-	14	2328	c.1628A>C	c.(1627-1629)aAt>aCt	p.N543T	ABCA3_ENST00000382381.3_Missense_Mutation_p.N485T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	543	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCTGTCCTTATTTCCCACCCT	0.662																																																0			16											143	109	120					16																	2349517		2198	4300	6498	2289518	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1628A>C	16.37:g.2349517T>G	ENSP00000301732:p.Asn543Thr		2289518	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	T	7.570	0.666585	0.14710	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90504	-2.68	5.78	-3.15	0.05233	ABC transporter-like (1);	0.547984	0.22298	N	0.061919	T	0.76118	0.3943	N	0.04746	-0.17	0.09310	N	1	B;B;B	0.27416	0.017;0.075;0.178	B;B;B	0.31442	0.019;0.045;0.13	T	0.65928	-0.6049	10	0.36615	T	0.2	.	8.5629	0.33523	0.0:0.4616:0.1213:0.4171	.	543;547;543	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	T	543;547	ENSP00000301732:N543T	ENSP00000301732:N543T	N	-	2	0	ABCA3	2289518	0.986000	0.35501	0.000000	0.03702	0.001000	0.01503	1.063000	0.30567	-0.837000	0.04223	-0.321000	0.08615	AAT		0.662	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		G	2349517	T	G	2349517	3	3	394	1	0	0	0	0	1	0	0	0	33	1493	52	5	3566	5	ABCA3	16	2349517	Missense_Mutation	SNP	T	TCGA-36-2545-01A-01D-1526-09	900077	2349517	88005236	45	21510											
IL21R	50615	genome.wustl.edu	37	16	27460570	27460570	+	Missense_Mutation	SNP	C	C	T	rs376045198		TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr16:27460570C>T	ENST00000337929.3	+	9	2056	c.1583C>T	c.(1582-1584)cCg>cTg	p.P528L	IL21R_ENST00000395755.1_Missense_Mutation_p.P528L|IL21R_ENST00000564089.1_Missense_Mutation_p.P528L|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.P528L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	528					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GTCATTCCTCCGCCACTTTCG	0.657			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16						C	LEU/PRO,LEU/PRO,LEU/PRO	1,3949		0,1,1974	31	30	30		1583,1583,1649	3.9	0	16		30	0,7968		0,0,3984	no	missense,missense,missense	IL21R	NM_021798.3,NM_181078.2,NM_181079.4	98,98,98	0,1,5958	TT,TC,CC		0.0,0.0253,0.0084	probably-damaging,probably-damaging,probably-damaging	528/539,528/539,550/561	27460570	1,11917	1975	3984	5959	27368071	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1583C>T	16.37:g.27460570C>T	ENSP00000338010:p.Pro528Leu		27368071	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235824	0.58886	2.53E-4	0.0	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.38077	1.16;1.16;1.16	4.9	3.88	0.44766	.	0.238545	0.29868	N	0.010983	T	0.50309	0.1608	M	0.63428	1.95	0.09310	N	0.999996	D	0.71674	0.998	P	0.61477	0.889	T	0.37709	-0.9694	10	0.72032	D	0.01	-10.5296	10.3523	0.43943	0.0:0.8006:0.1994:0.0	.	528	Q9HBE5	IL21R_HUMAN	L	528	ENSP00000338010:P528L;ENSP00000379104:P528L;ENSP00000379103:P528L	ENSP00000338010:P528L	P	+	2	0	IL21R	27368071	0.032000	0.19561	0.008000	0.14137	0.013000	0.08279	2.552000	0.45828	2.271000	0.75665	0.561000	0.74099	CCG		0.657	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		T	27460570	C	T	27460570	3	4	394	1	0	0	0	0	1	0	0	0	7671	652	23	1	1613	1	IL21R	16	27460570	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09	25111053	27460570	62894183	46	21511											
ZNF232	7775	genome.wustl.edu	37	17	5009372	5009372	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr17:5009372C>T	ENST00000250076.3	-	5	1736	c.1082G>A	c.(1081-1083)tGt>tAt	p.C361Y	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.C352Y|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	334					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ACATTCATTACATTCGAAGGG	0.458																																																0			17											94	96	95					17																	5009372		2203	4300	6503	4950096	SO:0001583	missense	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1082G>A	17.37:g.5009372C>T	ENSP00000250076:p.Cys361Tyr		4950096		Missense_Mutation	SNP	ENST00000250076.3	37	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867516	0.51588	.	.	ENSG00000167840	ENST00000250076	D	0.85088	-1.94	2.83	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93831	0.8027	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94718	0.7898	9	0.87932	D	0	.	11.8604	0.52463	0.0:1.0:0.0:0.0	.	334;325	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	Y	361	ENSP00000250076:C361Y	ENSP00000250076:C361Y	C	-	2	0	ZNF232	4950096	0.888000	0.30383	0.033000	0.17914	0.641000	0.38312	2.837000	0.48191	1.878000	0.54408	0.655000	0.94253	TGT		0.458	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		T	5009372	C	T	5009372	3	4	394	1	0	0	0	0	1	0	0	0	17785	478	17	2	256	2	ZNF232	17	5009372	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09		5009372	76185838	47	21512											
ITGB4	3691	genome.wustl.edu	37	17	73723323	73723323	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr17:73723323G>A	ENST00000200181.3	+	3	315	c.128G>A	c.(127-129)cGt>cAt	p.R43H	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R43H|ITGB4_ENST00000449880.2_Missense_Mutation_p.R43H|ITGB4_ENST00000579662.1_Missense_Mutation_p.R43H|ITGB4_ENST00000339591.3_Missense_Mutation_p.R43H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	43	PSI.			R -> Y (in Ref. 11; AA sequence). {ECO:0000305}.	amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGTGTGTCCGTGTGGATAAG	0.592																																																0			17											87	69	75					17																	73723323		2203	4300	6503	71234918	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.128G>A	17.37:g.73723323G>A	ENSP00000200181:p.Arg43His		71234918	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368807	0.42003	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92805	-3.11;-3.11;-3.11	5.36	5.36	0.76844	Integrin beta subunit, N-terminal (2);	0.155969	0.46758	D	0.000267	D	0.96119	0.8735	M	0.77820	2.39	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.962;0.981;0.989;0.995	D	0.96451	0.9334	10	0.87932	D	0	.	19.0937	0.93240	0.0:0.0:1.0:0.0	.	43;43;43;43	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	43	ENSP00000200181:R43H;ENSP00000344079:R43H;ENSP00000400217:R43H	ENSP00000200181:R43H	R	+	2	0	ITGB4	71234918	1.000000	0.71417	0.957000	0.39632	0.624000	0.37722	5.191000	0.65110	2.505000	0.84491	0.655000	0.94253	CGT		0.592	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			A	73723323	G	A	73723323	3	1	394	1	0	0	0	0	1	0	0	0	7897	1145	40	1	134	1	ITGB4	17	73723323	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	68713951	73723323	7471887	48	21513											
UPF1	5976	genome.wustl.edu	37	19	18967738	18967738	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr19:18967738C>T	ENST00000599848.1	+	14	2119	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	UPF1_ENST00000262803.5_Missense_Mutation_p.A626V			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	637					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCGAGGCTGGCCAAGATGCAG	0.627																																																0			19											74	68	70					19																	18967738		2203	4300	6503	18828738	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1910C>T	19.37:g.18967738C>T	ENSP00000470142:p.Ala637Val		18828738	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	C	18.06	3.540342	0.65085	.	.	ENSG00000005007	ENST00000262803	T	0.80393	-1.37	4.4	4.4	0.53042	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.64080	1.96	0.80722	D	1	B;B	0.22276	0.067;0.061	B;B	0.15484	0.013;0.013	T	0.77327	-0.2629	10	0.51188	T	0.08	-32.0353	15.9632	0.79948	0.0:1.0:0.0:0.0	.	637;626	Q92900;Q92900-2	RENT1_HUMAN;.	V	626	ENSP00000262803:A626V	ENSP00000262803:A626V	A	+	2	0	UPF1	18828738	1.000000	0.71417	0.990000	0.47175	0.640000	0.38277	7.265000	0.78442	2.006000	0.58801	0.491000	0.48974	GCC		0.627	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		T	18967738	C	T	18967738	3	4	394	1	0	0	0	0	1	0	0	0	17003	739	26	2	1931	2	UPF1	19	18967738	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09		18967738	40161245	49	21514											
CCDC123	84902	genome.wustl.edu	37	19	33372864	33372864	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr19:33372864T>A	ENST00000305768.5	-	18	2109	c.2021A>T	c.(2020-2022)gAg>gTg	p.E674V		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	674					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCCTGCTGCTCCAGCAGACG	0.642																																																0			19											41	29	33					19																	33372864		2203	4300	6503	38064704	SO:0001583	missense	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2021A>T	19.37:g.33372864T>A	ENSP00000306105:p.Glu674Val		38064704	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	t	19.94	3.920637	0.73213	.	.	ENSG00000121289	ENST00000305768	D	0.88586	-2.4	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	D	0.93318	0.7870	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.93213	0.6602	10	0.48119	T	0.1	-16.3105	14.8341	0.70169	0.0:0.0:0.0:1.0	.	674	Q96ST8	CEP89_HUMAN	V	674	ENSP00000306105:E674V	ENSP00000306105:E674V	E	-	2	0	CEP89	38064704	1.000000	0.71417	0.973000	0.42090	0.845000	0.48019	5.620000	0.67736	2.155000	0.67459	0.454000	0.30748	GAG		0.642	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		A	33372864	T	A	33372864	3	1	394	1	0	0	0	0	1	0	0	0	2759	1551	54	5	338	5	CCDC123	19	33372864	Missense_Mutation	SNP	T	TCGA-36-2545-01A-01D-1526-09	14405126	33372864	25756119	50	21515											
ZNF792	126375	genome.wustl.edu	37	19	35449623	35449623	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr19:35449623G>C	ENST00000404801.1	-	4	1522	c.1136C>G	c.(1135-1137)tCc>tGc	p.S379C	ZNF792_ENST00000605484.1_Missense_Mutation_p.S312C	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATGAGGTTGGAACGCTGGCT	0.473																																					GBM(1;7 183 21053 22581 22847)											0			19											48	43	45					19																	35449623		2203	4300	6503	40141463	SO:0001583	missense	126375			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1136C>G	19.37:g.35449623G>C	ENSP00000385099:p.Ser379Cys		40141463	B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	12.11	1.839196	0.32513	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.19105	2.17	2.55	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37945	0.1022	M	0.71581	2.175	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.10109	-1.0644	9	0.66056	D	0.02	.	4.8851	0.13699	0.0:0.2423:0.5099:0.2477	.	379	Q3KQV3	ZN792_HUMAN	C	379;139	ENSP00000385099:S379C	ENSP00000368487:S139C	S	-	2	0	ZNF792	40141463	0.132000	0.22450	0.041000	0.18516	0.915000	0.54546	2.473000	0.45145	0.589000	0.29677	0.563000	0.77884	TCC		0.473	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		C	35449623	G	C	35449623	3	2	394	1	0	0	0	0	1	0	0	0	18164	1174	41	3	766	3	ZNF792	19	35449623	Missense_Mutation	SNP	G	TCGA-36-2545-01A-01D-1526-09	2076759	35449623	23679360	51	21516											
BRSK1	84446	genome.wustl.edu	37	19	55805403	55805403	+	Silent	SNP	C	C	T	rs373361295	byFrequency	TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr19:55805403C>T	ENST00000309383.1	+	5	754	c.477C>T	c.(475-477)ccC>ccT	p.P159P	BRSK1_ENST00000590333.1_Silent_p.P175P|BRSK1_ENST00000585418.1_Silent_p.P159P	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACCTAAAGCCCGAGAACCTGC	0.602													C|||	2	0.000399361	0	0	5008	,	,		14059	0.002		0	False		,,,				2504	0															0			19						C		1,4405		0,1,2202	144	147	146		477	-9.6	0.4	19		146	0,8600		0,0,4300	no	coding-synonymous	BRSK1	NM_032430.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		159/779	55805403	1,13005	2203	4300	6503	60497215	SO:0001819	synonymous_variant	84446			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.477C>T	19.37:g.55805403C>T			60497215	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	CCDS12921.1																																																																																				0.602	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		T	55805403	C	T	55805403	2	4	394	1	0	0	0	0	0	0	0	1	1523	639	23	1		1	BRSK1	19	55805403	Silent	SNP	C	TCGA-36-2545-01A-01D-1526-09	20355780	55805403	3323580	52	21517											
XRCC6	2547	genome.wustl.edu	37	22	42032774	42032774	+	Splice_Site	SNP	G	G	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr22:42032774G>C	ENST00000359308.4	+	4	1244	c.589G>C	c.(589-591)Ggc>Cgc	p.G197R	XRCC6_ENST00000405878.1_Splice_Site_p.G197R|XRCC6_ENST00000428575.2_Splice_Site_p.G64R|XRCC6_ENST00000402580.3_Splice_Site_p.G156R|XRCC6_ENST00000360079.3_Splice_Site_p.G197R|XRCC6_ENST00000405506.1_Splice_Site_p.G147R			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	197					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CCGAGATACAGGTGGGCATAT	0.458								Non-homologous end-joining																																								0			22											52	55	54					22																	42032774		2203	4300	6503	40362720	SO:0001630	splice_region_variant	2547			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.589+1G>C	22.37:g.42032774G>C			40362720	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815526	0.70912	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.39	5.39	0.77823	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.85682	0.5753	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;1.0;0.999	D	0.87581	0.2484	9	0.54805	T	0.06	-16.0192	19.1841	0.93635	0.0:0.0:1.0:0.0	.	147;197;156;197	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	R	197;156;64;197;197;197;147	.	ENSP00000352257:G197R	G	+	1	0	XRCC6	40362720	1.000000	0.71417	0.997000	0.53966	0.228000	0.25075	9.476000	0.97823	2.537000	0.85549	0.655000	0.94253	GGC		0.458	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469	Missense_Mutation	C	42032774	G	C	42032774	5	2	394	1	0	0	0	0	0	0	1	0	17457	1014	35	3	603	3	XRCC6	22	42032774	Splice_Site	SNP	G	TCGA-36-2545-01A-01D-1526-09		42032774	9271792	53	21518											
BRD1	23774	genome.wustl.edu	37	22	50216771	50216771	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chr22:50216771T>A	ENST00000216267.8	-	1	1681	c.1195A>T	c.(1195-1197)Aat>Tat	p.N399Y	BRD1_ENST00000542442.1_Missense_Mutation_p.N38Y|BRD1_ENST00000457780.2_Missense_Mutation_p.N399Y|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404760.1_Missense_Mutation_p.N399Y|BRD1_ENST00000404034.1_Missense_Mutation_p.N399Y	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	399					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCGTAAATATTCAGAGGCCTC	0.532																																																0			22											119	142	134					22																	50216771		2203	4300	6503	48602775	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1195A>T	22.37:g.50216771T>A	ENSP00000216267:p.Asn399Tyr		48602775	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015035	0.54468	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442	T;T;T;T;T	0.28069	2.57;2.57;2.57;2.39;1.63	5.67	5.67	0.87782	.	0.177364	0.64402	D	0.000014	T	0.49508	0.1561	L	0.55481	1.735	0.44221	D	0.997056	D;D;D	0.69078	0.993;0.997;0.996	P;P;D	0.63597	0.825;0.825;0.916	T	0.48603	-0.9021	10	0.59425	D	0.04	.	15.8982	0.79350	0.0:0.0:0.0:1.0	.	399;399;399	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	Y	399;399;399;399;38	ENSP00000216267:N399Y;ENSP00000384076:N399Y;ENSP00000385858:N399Y;ENSP00000410042:N399Y;ENSP00000437514:N38Y	ENSP00000216267:N399Y	N	-	1	0	BRD1	48602775	0.965000	0.33210	0.999000	0.59377	0.888000	0.51559	2.251000	0.43187	2.159000	0.67721	0.533000	0.62120	AAT		0.532	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		A	50216771	T	A	50216771	3	1	394	1	0	0	0	0	1	0	0	0	1501	1783	62	5	2029	5	BRD1	22	50216771	Missense_Mutation	SNP	T	TCGA-36-2545-01A-01D-1526-09	8183997	50216771	1087795	54	21519											
BCOR	54880	genome.wustl.edu	37	X	39932444	39932444	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chrX:39932444C>A	ENST00000378444.4	-	4	2383	c.2155G>T	c.(2155-2157)Gcc>Tcc	p.A719S	BCOR_ENST00000378455.4_Missense_Mutation_p.A719S|BCOR_ENST00000397354.3_Missense_Mutation_p.A719S|BCOR_ENST00000342274.4_Missense_Mutation_p.A719S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	719					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AACCCCAGGGCATCTTGGTAG	0.567			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0			X											51	50	50					X																	39932444		2202	4300	6502	39817388	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2155G>T	X.37:g.39932444C>A	ENSP00000367705:p.Ala719Ser		39817388	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946500	0.53186	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.71	5.71	0.89125	.	.	.	.	.	T	0.23846	0.0577	N	0.14661	0.345	0.39456	D	0.967486	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.972;0.993;0.972	T	0.09997	-1.0649	9	0.37606	T	0.19	-19.5567	12.2215	0.54437	0.0:0.9206:0.0:0.0794	.	719;719;719;719	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	S	719;719;719;719;719;126	ENSP00000367716:A719S;ENSP00000380512:A719S;ENSP00000367705:A719S;ENSP00000345923:A719S;ENSP00000384485:A719S	ENSP00000345923:A719S	A	-	1	0	BCOR	39817388	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	4.581000	0.60949	2.385000	0.81259	0.513000	0.50165	GCC		0.567	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		A	39932444	C	A	39932444	3	1	394	1	0	0	0	0	1	0	0	0	1386	710	25	3	3160	3	BCOR	23	39932444	Missense_Mutation	SNP	C	TCGA-36-2545-01A-01D-1526-09		39932444	115338116	55	21520											
SLC35A2	7355	genome.wustl.edu	37	X	48762607	48762607	+	Silent	SNP	C	C	A			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chrX:48762607C>A	ENST00000247138.5	-	4	582	c.579G>T	c.(577-579)cgG>cgT	p.R193R	SLC35A2_ENST00000413561.2_Silent_p.R132R|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000452555.2_Silent_p.R221R|SLC35A2_ENST00000376521.1_Silent_p.R193R|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376515.3_Intron	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	193					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GATCCAGTGGCCGTGGGCCTC	0.642																																																0			X											10	11	11					X																	48762607		2179	4263	6442	48647551	SO:0001819	synonymous_variant	7355			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.579G>T	X.37:g.48762607C>A			48647551	A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Silent	SNP	ENST00000247138.5	37	CCDS14311.1																																																																																				0.642	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		A	48762607	C	A	48762607	2	1	394	1	0	0	0	0	0	0	0	1	14574	726	26	3		3	SLC35A2	23	48762607	Silent	SNP	C	TCGA-36-2545-01A-01D-1526-09	8830163	48762607	106507953	56	21521											
ARMCX5	64860	genome.wustl.edu	37	X	101857911	101857911	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chrX:101857911T>C	ENST00000604957.1	+	1	3464	c.842T>C	c.(841-843)aTc>aCc	p.I281T	ARMCX5_ENST00000246174.2_Missense_Mutation_p.I281T|ARMCX5_ENST00000541409.1_Missense_Mutation_p.I281T|ARMCX5_ENST00000372742.1_Missense_Mutation_p.I281T|RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.I281T|ARMCX5_ENST00000536530.1_Missense_Mutation_p.I281T	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	281										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTAGCTGAGATCAAAAAACAG	0.453																																																0			X											87	81	83					X																	101857911		2203	4300	6503	101744567	SO:0001583	missense	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.842T>C	X.37:g.101857911T>C	ENSP00000474720:p.Ile281Thr		101744567	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	T	2.926	-0.222199	0.06061	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	3.9	2.74	0.32292	.	0.420575	0.17569	N	0.169529	T	0.15392	0.0371	L	0.27053	0.805	0.09310	N	1	P	0.37781	0.608	B	0.31869	0.137	T	0.11421	-1.0588	10	0.22109	T	0.4	-0.6149	5.1276	0.14894	0.0:0.1335:0.0:0.8665	.	281	Q6P1M9	ARMX5_HUMAN	T	281	ENSP00000246174:I281T;ENSP00000439001:I281T;ENSP00000446385:I281T;ENSP00000445851:I281T;ENSP00000361827:I281T	ENSP00000246174:I281T	I	+	2	0	ARMCX5	101744567	0.824000	0.29247	0.026000	0.17262	0.154000	0.21943	1.407000	0.34657	0.678000	0.31325	0.486000	0.48141	ATC		0.453	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		C	101857911	T	C	101857911	3	2	394	1	0	0	0	0	1	0	0	0	962	1435	50	4	844	4	ARMCX5	23	101857911	Missense_Mutation	SNP	T	TCGA-36-2545-01A-01D-1526-09	53095304	101857911	53412649	57	21522											
ZNF449	203523	genome.wustl.edu	37	X	134494200	134494200	+	Silent	SNP	A	A	G			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chrX:134494200A>G	ENST00000339249.4	+	5	896	c.756A>G	c.(754-756)ttA>ttG	p.L252L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	252					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)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTAACTTTAGAGGGGAATG	0.368																																																0			X											56	59	58					X																	134494200		2184	4248	6432	134321866	SO:0001819	synonymous_variant	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.756A>G	X.37:g.134494200A>G			134321866	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Silent	SNP	ENST00000339249.4	37	CCDS14649.1																																																																																				0.368	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		G	134494200	A	G	134494200	2	3	394	1	0	0	0	0	0	0	0	1	17920	417	15	4		4	ZNF449	23	134494200	Silent	SNP	A	TCGA-36-2545-01A-01D-1526-09	32636289	134494200	20776360	58	21523											
ARHGAP4	393	genome.wustl.edu	37	X	153173342	153173342	+	Silent	SNP	T	T	C			TCGA-36-2545-01A-01D-1526-09	TCGA-36-2545-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff47cb75-3f83-4749-a21d-69bfa5eb6dbc	ee353276-9833-4604-a76f-c9f937999791	g.chrX:153173342T>C	ENST00000350060.5	-	22	2723	c.2682A>G	c.(2680-2682)ccA>ccG	p.P894P	ARHGAP4_ENST00000370016.1_Silent_p.P873P|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000537206.1_Silent_p.P871P|ARHGAP4_ENST00000370028.3_Silent_p.P934P|ARHGAP4_ENST00000393721.1_Silent_p.P716P	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	894					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					TGGTAGATGCTGGCCCAAGGC	0.647																																																0			X											51	55	54					X																	153173342		2202	4300	6502	152826536	SO:0001819	synonymous_variant	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2682A>G	X.37:g.153173342T>C			152826536	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1																																																																																				0.647	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		C	153173342	T	C	153173342	2	2	394	1	0	0	0	0	0	0	0	1	885	1567	55	4		4	ARHGAP4	23	153173342	Silent	SNP	T	TCGA-36-2545-01A-01D-1526-09	18679142	153173342	2097218	59	21524											
NPPB	4879	genome.wustl.edu	37	1	11918474	11918474	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:11918474G>A	ENST00000376468.3	-	2	282	c.185C>T	c.(184-186)aCa>aTa	p.T62I		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	62					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CTCCAGGGATGTCTGCTCCAC	0.652																																																0			1											25	27	26					1																	11918474		2203	4299	6502	11841061	SO:0001583	missense	4879			BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"Endogenous ligands"	7940	protein-coding gene	gene with protein product		600295	"natriuretic peptide precursor B"			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.185C>T	1.37:g.11918474G>A	ENSP00000365651:p.Thr62Ile		11841061	B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	37	CCDS140.1	.	.	.	.	.	.	.	.	.	.	G	2.183	-0.387132	0.04932	.	.	ENSG00000120937	ENST00000376468	T	0.23552	1.9	4.31	-8.61	0.00885	.	.	.	.	.	T	0.10294	0.0252	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29150	-1.0021	9	0.30078	T	0.28	.	6.6387	0.22897	0.1684:0.1268:0.5799:0.1249	.	62	P16860	ANFB_HUMAN	I	62	ENSP00000365651:T62I	ENSP00000365651:T62I	T	-	2	0	NPPB	11841061	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.584000	0.05800	-1.846000	0.01175	-2.677000	0.00143	ACA		0.652	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		A	11918474	G	A	11918474	3	1	395	1	0	0	0	0	1	0	0	0	10592	1377	48	2	227	2	NPPB	1	11918474	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09		11918474	237332147	1	21525											
AKR7L	246181	genome.wustl.edu	37	1	19593797	19593797	+	RNA	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:19593797G>A	ENST00000429712.1	-	0	1112				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						AATGAGCTTAGATGAAGTAGT	0.512																																																0			1											72	76	75					1																	19593797		2203	4300	6503	19466384			246181					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19593797G>A			19466384	Q5U614	Silent	SNP	ENST00000429712.1	37																																																																																					0.512	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		A	19593797	G	A	19593797	1	1	395	0	1	0	0	0	0	0	0	0	477	932	33	2		2	AKR7L	1	19593797	RNA	SNP	G	TCGA-36-2547-01A-01D-1526-09	7675323	19593797	229656824	2	21526											
SRRM1	10250	genome.wustl.edu	37	1	24995972	24995972	+	Missense_Mutation	SNP	G	G	A	rs142386020		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:24995972G>A	ENST00000323848.9	+	14	2413	c.2098G>A	c.(2098-2100)Gtt>Att	p.V700I	SRRM1_ENST00000447431.2_Missense_Mutation_p.V712I|SRRM1_ENST00000479034.1_3'UTR|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000374389.4_Missense_Mutation_p.V709I	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	700	Arg-rich.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCTCCACCCGTTCGAAGAGG	0.582																																					Ovarian(68;897 1494 3282 17478)											0			1						G	ILE/VAL	0,4406		0,0,2203	54	50	51		2098	3.9	0.5	1	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRRM1	NM_005839.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	700/905	24995972	1,13005	2203	4300	6503	24868559	SO:0001583	missense	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2098G>A	1.37:g.24995972G>A	ENSP00000326261:p.Val700Ile		24868559	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440783	0.25900	0.0	1.16E-4	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.31510	1.49;1.49;1.49	5.85	3.87	0.44632	.	0.429536	0.19391	N	0.115416	T	0.20373	0.0490	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15407	-1.0438	10	0.20519	T	0.43	-1.1351	9.7186	0.40289	0.0945:0.2253:0.6801:0.0	.	712;700	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	I	700;712;709	ENSP00000326261:V700I;ENSP00000391430:V712I;ENSP00000363510:V709I	ENSP00000326261:V700I	V	+	1	0	SRRM1	24868559	0.002000	0.14202	0.544000	0.28141	0.912000	0.54170	1.376000	0.34306	1.412000	0.46977	0.563000	0.77884	GTT		0.582	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		A	24995972	G	A	24995972	3	1	395	1	0	0	0	0	1	0	0	0	15170	1145	40	1	2152	1	SRRM1	1	24995972	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	5402175	24995972	224254649	3	21527											
UTP11L	51118	genome.wustl.edu	37	1	38488461	38488461	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:38488461C>G	ENST00000373014.4	+	7	719	c.658C>G	c.(658-660)Caa>Gaa	p.Q220E	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	220					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCAGAAAATTCAAACACGCAA	0.393																																																0			1											102	94	96					1																	38488461		2203	4300	6503	38261048	SO:0001583	missense	51118			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.658C>G	1.37:g.38488461C>G	ENSP00000362105:p.Gln220Glu		38261048	A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	CCDS429.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888983	0.33348	.	.	ENSG00000183520	ENST00000373014	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	N	0.17800	0.525	0.80722	D	1	P	0.36199	0.543	B	0.39660	0.306	T	0.37150	-0.9718	9	0.02654	T	1	-14.0712	20.8794	0.99867	0.0:1.0:0.0:0.0	.	220	Q9Y3A2	UTP11_HUMAN	E	220	.	ENSP00000362105:Q220E	Q	+	1	0	UTP11L	38261048	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.853000	0.75435	2.941000	0.99782	0.655000	0.94253	CAA		0.393	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		G	38488461	C	G	38488461	3	3	395	1	0	0	0	0	1	0	0	0	17094	827	29	3	684	3	UTP11L	1	38488461	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	13492489	38488461	210762160	4	21528											
MACF1	23499	genome.wustl.edu	37	1	39903522	39903522	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:39903522T>A	ENST00000372915.3	+	70	17846	c.17759T>A	c.(17758-17760)aTc>aAc	p.I5920N	MACF1_ENST00000289893.4_Missense_Mutation_p.I4464N|MACF1_ENST00000567887.1_Missense_Mutation_p.I6058N|MACF1_ENST00000317713.7_Missense_Mutation_p.I3962N|MACF1_ENST00000545844.1_Missense_Mutation_p.I3962N|MACF1_ENST00000539005.1_Missense_Mutation_p.I3832N|MACF1_ENST00000361689.2_Missense_Mutation_p.I3962N|MACF1_ENST00000564288.1_Missense_Mutation_p.I6021N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5920					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCACCACTGATCCCTGCTGAA	0.463																																																0			1											179	164	169					1																	39903522		2203	4300	6503	39676109	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17759T>A	1.37:g.39903522T>A	ENSP00000362006:p.Ile5920Asn		39676109	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.603045|4.603045	0.87157|0.87157	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.54279	.|0.58;0.58;0.58;0.58;0.58;0.58	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.71904|0.71904	0.3395|0.3395	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.71414	.|0.973;0.97	T|T	0.76038|0.76038	-0.3105|-0.3105	5|10	.|0.87932	.|D	.|0	.|.	15.6841|15.6841	0.77396|0.77396	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|5920;3962	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	E|N	2965|3962;5920;3962;3962;3832;4464	.|ENSP00000439537:I3962N;ENSP00000362006:I5920N;ENSP00000354573:I3962N;ENSP00000313438:I3962N;ENSP00000444364:I3832N;ENSP00000289893:I4464N	.|ENSP00000289893:I4464N	D|I	+|+	3|2	2|0	MACF1|MACF1	39676109|39676109	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	7.997000|7.997000	0.88414|0.88414	2.162000|2.162000	0.67917|0.67917	0.460000|0.460000	0.39030|0.39030	GAT|ATC		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39903522	T	A	39903522	3	1	395	1	0	0	0	0	1	0	0	0	9144	1435	50	5	18302	5	MACF1	1	39903522	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	1415061	39903522	209347099	5	21529											
RNF220	55182	genome.wustl.edu	37	1	44878386	44878386	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:44878386A>T	ENST00000355387.2	+	2	1067	c.617A>T	c.(616-618)aAt>aTt	p.N206I	RNF220_ENST00000361799.2_Missense_Mutation_p.N206I|RNF220_ENST00000372247.2_Missense_Mutation_p.N206I			Q5VTB9	RN220_HUMAN	ring finger protein 220	206					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GAGGATCGGAATGACAGATGT	0.522																																																0			1											93	84	87					1																	44878386		2203	4300	6503	44650973	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.617A>T	1.37:g.44878386A>T	ENSP00000347548:p.Asn206Ile		44650973	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	CCDS510.1	.	.	.	.	.	.	.	.	.	.	A	8.658	0.899967	0.17686	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	4.57	0.56435	.	0.176186	0.49916	D	0.000122	T	0.30166	0.0756	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05971	-1.0853	9	0.31617	T	0.26	.	9.2865	0.37760	0.8432:0.0:0.1568:0.0	.	206	Q5VTB9	RN220_HUMAN	I	206	.	ENSP00000347548:N206I	N	+	2	0	RNF220	44650973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.552000	0.60747	0.990000	0.38787	0.533000	0.62120	AAT		0.522	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		T	44878386	A	T	44878386	3	4	395	1	0	0	0	0	1	0	0	0	13486	101	4	5	619	5	RNF220	1	44878386	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	4974864	44878386	204372235	6	21530											
KIAA0494	9813	genome.wustl.edu	37	1	47144202	47144202	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:47144202C>A	ENST00000371933.3	-	11	2395	c.1419G>T	c.(1417-1419)ttG>ttT	p.L473F	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	473	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										CAAATGCTCTCAAGCTCTCTG	0.478																																																0			1											110	107	108					1																	47144202		2203	4300	6503	46916789	SO:0001583	missense	9813			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1419G>T	1.37:g.47144202C>A	ENSP00000361001:p.Leu473Phe		46916789	D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654796	0.47467	.	.	ENSG00000159658	ENST00000371933	T	0.02280	4.36	5.14	1.02	0.19986	EF-hand-like domain (1);	0.229376	0.36066	N	0.002812	T	0.03695	0.0105	L	0.31926	0.97	0.23845	N	0.99668	D;B	0.69078	0.997;0.004	D;B	0.65987	0.94;0.011	T	0.43147	-0.9409	10	0.28530	T	0.3	-22.0368	1.588	0.02648	0.3522:0.3607:0.1245:0.1625	.	265;473	B7Z3D1;O75071	.;K0494_HUMAN	F	473	ENSP00000361001:L473F	ENSP00000361001:L473F	L	-	3	2	KIAA0494	46916789	0.468000	0.25839	0.019000	0.16419	0.865000	0.49528	0.177000	0.16801	0.037000	0.15575	0.591000	0.81541	TTG		0.478	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		A	47144202	C	A	47144202	3	1	395	1	0	0	0	0	1	0	0	0	8179	825	29	3	72	3	KIAA0494	1	47144202	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	2265816	47144202	202106419	7	21531											
STIL	6491	genome.wustl.edu	37	1	47717183	47717183	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:47717183C>G	ENST00000360380.3	-	18	3852	c.3489G>C	c.(3487-3489)caG>caC	p.Q1163H	STIL_ENST00000371877.3_Missense_Mutation_p.Q1164H|STIL_ENST00000396221.2_Missense_Mutation_p.Q1146H|STIL_ENST00000337817.5_Missense_Mutation_p.Q1163H|STIL_ENST00000243182.6_Missense_Mutation_p.Q1163H	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1163					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GACCACCAAGCTGTTCAGGTA	0.408																																																0			1											134	134	134					1																	47717183		2203	4300	6503	47489770	SO:0001583	missense	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3489G>C	1.37:g.47717183C>G	ENSP00000353544:p.Gln1163His		47489770	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585141	0.28268	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.19669	2.14;2.14;2.14;2.13;2.14	5.81	0.108	0.14548	.	0.475348	0.22667	N	0.057101	T	0.23370	0.0565	L	0.34521	1.04	0.09310	N	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.69479	0.951;0.951;0.964	T	0.08806	-1.0704	10	0.40728	T	0.16	-3.9196	1.5248	0.02523	0.14:0.3259:0.143:0.3911	.	1146;1164;1163	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	H	1163;1163;1164;1146;1163	ENSP00000353544:Q1163H;ENSP00000337367:Q1163H;ENSP00000360944:Q1164H;ENSP00000379523:Q1146H;ENSP00000243182:Q1163H	ENSP00000243182:Q1163H	Q	-	3	2	STIL	47489770	0.000000	0.05858	0.012000	0.15200	0.518000	0.34316	-0.172000	0.09868	0.083000	0.17047	-0.384000	0.06662	CAG		0.408	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		G	47717183	C	G	47717183	3	3	395	1	0	0	0	0	1	0	0	0	15284	796	28	3	378	3	STIL	1	47717183	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	572981	47717183	201533438	8	21532											
SLC5A9	200010	genome.wustl.edu	37	1	48703467	48703467	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:48703467C>T	ENST00000438567.2	+	11	1461	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	SLC5A9_ENST00000236495.5_Missense_Mutation_p.P495L|SLC5A9_ENST00000533824.1_Missense_Mutation_p.P491L	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	470					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGCCCCACCCATCACCGCT	0.572																																																0			1											132	107	116					1																	48703467		2203	4300	6503	48476054	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1409C>T	1.37:g.48703467C>T	ENSP00000401730:p.Pro470Leu		48476054	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	c	29.4	5.006707	0.93287	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.88896	-2.44;-2.44;-2.44	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98208	1.0471	10	0.87932	D	0	.	17.5459	0.87861	0.0:1.0:0.0:0.0	.	491;470;495	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	L	491;470;495	ENSP00000431900:P491L;ENSP00000401730:P470L;ENSP00000236495:P495L	ENSP00000236495:P495L	P	+	2	0	SLC5A9	48476054	1.000000	0.71417	0.935000	0.37517	0.948000	0.59901	7.651000	0.83577	2.624000	0.88883	0.651000	0.88453	CCC		0.572	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		T	48703467	C	T	48703467	3	4	395	1	0	0	0	0	1	0	0	0	14675	623	22	2	1530	2	SLC5A9	1	48703467	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	986284	48703467	200547154	9	21533											
MSH4	4438	genome.wustl.edu	37	1	76365303	76365303	+	Splice_Site	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:76365303G>C	ENST00000263187.3	+	19	2635	c.2531G>C	c.(2530-2532)gGa>gCa	p.G844A		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	844					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.G844E(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATAATTCTAGGATTAAAAGCT	0.313								Mismatch excision repair (MMR)																																								1	Substitution - Missense(1)	skin(1)	1											79	84	82					1																	76365303		2203	4298	6501	76137891	SO:0001630	splice_region_variant	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2531-1G>C	1.37:g.76365303G>C			76137891	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994733	0.74703	.	.	ENSG00000057468	ENST00000263187	D	0.95171	-3.63	5.61	5.61	0.85477	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96166	0.8750	M	0.64260	1.97	0.58432	D	0.999991	D	0.76494	0.999	D	0.79784	0.993	D	0.95302	0.8404	9	.	.	.	.	17.8182	0.88642	0.0:0.0:1.0:0.0	.	844	O15457	MSH4_HUMAN	A	844	ENSP00000263187:G844A	.	G	+	2	0	MSH4	76137891	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.777000	0.85628	2.643000	0.89663	0.467000	0.42956	GGA		0.313	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	Missense_Mutation	C	76365303	G	C	76365303	5	2	395	1	0	0	0	0	0	0	1	0	9872	1188	41	3	2605	3	MSH4	1	76365303	Splice_Site	SNP	G	TCGA-36-2547-01A-01D-1526-09	27661836	76365303	172885318	10	21534											
ABCA4	24	genome.wustl.edu	37	1	94528847	94528847	+	Silent	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:94528847G>A	ENST00000370225.3	-	12	1667	c.1581C>T	c.(1579-1581)agC>agT	p.S527S	ABCA4_ENST00000535735.1_Silent_p.S527S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	527					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATCATTGTAGCTTTCAAACT	0.488																																																0			1											109	103	105					1																	94528847		2203	4300	6503	94301435	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1581C>T	1.37:g.94528847G>A			94301435	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.488	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94528847	G	A	94528847	2	1	395	1	0	0	0	0	0	0	0	1	34	962	34	2		2	ABCA4	1	94528847	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	18163544	94528847	154721774	11	21535											
CELSR2	1952	genome.wustl.edu	37	1	109804474	109804474	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:109804474A>C	ENST00000271332.3	+	5	4403	c.4342A>C	c.(4342-4344)Agt>Cgt	p.S1448R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1448	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGAGGAGTCAGTGATGGCCA	0.587																																					NSCLC(158;1285 2011 34800 34852 42084)											0			1											94	70	78					1																	109804474		2202	4299	6501	109605997	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4342A>C	1.37:g.109804474A>C	ENSP00000271332:p.Ser1448Arg		109605997	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872463	0.91587	.	.	ENSG00000143126	ENST00000271332	T	0.80566	-1.39	5.01	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.89136	0.6629	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91263	0.5038	9	0.87932	D	0	.	14.8929	0.70623	1.0:0.0:0.0:0.0	.	1448	Q9HCU4	CELR2_HUMAN	R	1448	ENSP00000271332:S1448R	ENSP00000271332:S1448R	S	+	1	0	CELSR2	109605997	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.703000	0.91344	2.100000	0.63781	0.379000	0.24179	AGT		0.587	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		C	109804474	A	C	109804474	3	2	395	1	0	0	0	0	1	0	0	0	3222	188	7	5	4360	5	CELSR2	1	109804474	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	15275627	109804474	139446147	12	21536											
CSDE1	7812	genome.wustl.edu	37	1	115282494	115282494	+	Silent	SNP	G	G	A	rs143932215		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:115282494G>A	ENST00000358528.4	-	3	444	c.18C>T	c.(16-18)aaC>aaT	p.N6N	CSDE1_ENST00000438362.2_Silent_p.N52N|CSDE1_ENST00000369530.1_Silent_p.N52N|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000261443.5_Silent_p.N6N|CSDE1_ENST00000534699.1_Silent_p.N6N|CSDE1_ENST00000339438.6_Silent_p.N6N	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	6					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGGAGAAGGTTTGGATCAA	0.348																																																0			1											249	256	254					1																	115282494		2203	4300	6503	115084017	SO:0001819	synonymous_variant	7812				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.18C>T	1.37:g.115282494G>A			115084017	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	CCDS30812.1																																																																																				0.348	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		A	115282494	G	A	115282494	2	1	395	1	0	0	0	0	0	0	0	1	3929	1252	44	2		2	CSDE1	1	115282494	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	5478020	115282494	133968127	13	21537											
SHE	126669	genome.wustl.edu	37	1	154458531	154458531	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:154458531G>C	ENST00000304760.2	-	5	1275	c.1189C>G	c.(1189-1191)Cat>Gat	p.H397D		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	397	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.							p.H397Y(1)		breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGGCACCATGATACCAGCTG	0.493																																																1	Substitution - Missense(1)	pancreas(1)	1											83	74	77					1																	154458531		2203	4300	6503	152725155	SO:0001583	missense	126669			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1189C>G	1.37:g.154458531G>C	ENSP00000307369:p.His397Asp		152725155	Q8TEQ5	Missense_Mutation	SNP	ENST00000304760.2	37	CCDS30877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.732811|4.732811	0.89482|0.89482	.|.	.|.	ENSG00000169291|ENSG00000169291	ENST00000304760|ENST00000555188	T|.	0.69435|.	-0.4|.	5.41|5.41	5.41|5.41	0.78517|0.78517	SH2 motif (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86736|.	0.6004|.	H|H	0.96239|0.96239	3.79|3.79	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|.	0.90052|.	0.4150|.	9|.	.|.	.|.	.|.	-32.6451|-32.6451	17.9533|17.9533	0.89061|0.89061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	397|.	Q5VZ18|.	SHE_HUMAN|.	D|X	397|94	ENSP00000307369:H397D|.	.|.	H|S	-|-	1|2	0|0	SHE|SHE	152725155|152725155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.944000|8.944000	0.92980|0.92980	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	CAT|TCA		0.493	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846		C	154458531	G	C	154458531	3	2	395	1	0	0	0	0	1	0	0	0	14279	1290	45	3	306	3	SHE	1	154458531	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	39176037	154458531	94792090	14	21538											
ZBTB37	84614	genome.wustl.edu	37	1	173842707	173842707	+	Intron	SNP	A	A	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:173842707A>G	ENST00000367701.5	+	3	1214				ZBTB37_ENST00000367702.1_Silent_p.V342V|ZBTB37_ENST00000427304.1_Intron|ZBTB37_ENST00000367704.1_Intron|ZBTB37_ENST00000432989.1_Silent_p.V342V			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GCTCCCAGGTATGGAGTTGTG	0.458																																																0			1											91	89	89					1																	173842707		2203	4300	6503	172109330	SO:0001627	intron_variant	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1023+3A>G	1.37:g.173842707A>G			172109330	Q5TC80|Q96M87|Q9BQ88	Silent	SNP	ENST00000367701.5	37	CCDS44278.1																																																																																				0.458	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		G	173842707	A	G	173842707	1	3	395	0	1	0	0	0	0	0	0	0	17538	436	16	4		4	ZBTB37	1	173842707	Intron	SNP	A	TCGA-36-2547-01A-01D-1526-09	19384176	173842707	75407914	15	21539											
RNASEL	6041	genome.wustl.edu	37	1	182545452	182545452	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:182545452C>A	ENST00000367559.3	-	6	2231	c.1978G>T	c.(1978-1980)Ggt>Tgt	p.G660C	RNASEL_ENST00000444138.1_Missense_Mutation_p.G660C	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	660	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AGCAGATCACCCACAGTGTTC	0.274																																																0			1											71	73	72					1																	182545452		2203	4295	6498	180812075	SO:0001583	missense	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1978G>T	1.37:g.182545452C>A	ENSP00000356530:p.Gly660Cys		180812075	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996242	0.35226	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.31769	1.48;1.48	5.4	2.29	0.28610	PUG domain (1);KEN domain, ribonuclease activator (2);	0.541770	0.17188	N	0.183612	T	0.48114	0.1482	M	0.73962	2.25	0.58432	D	0.999995	D	0.89917	1.0	D	0.74348	0.983	T	0.43845	-0.9366	10	0.66056	D	0.02	-16.7114	4.5787	0.12248	0.0:0.6125:0.1825:0.205	.	660	Q05823	RN5A_HUMAN	C	660	ENSP00000356530:G660C;ENSP00000411147:G660C	ENSP00000356530:G660C	G	-	1	0	RNASEL	180812075	0.005000	0.15991	0.918000	0.36340	0.170000	0.22686	0.948000	0.29096	0.660000	0.30964	0.591000	0.81541	GGT		0.274	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		A	182545452	C	A	182545452	3	1	395	1	0	0	0	0	1	0	0	0	13419	623	22	3	255	3	RNASEL	1	182545452	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	8702745	182545452	66705169	16	21540											
PIGR	5284	genome.wustl.edu	37	1	207112590	207112590	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:207112590G>A	ENST00000356495.4	-	3	445	c.262C>T	c.(262-264)Ccg>Tcg	p.P88S		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	88	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGTTCTCCGGGAAGTTGGTG	0.592																																																0			1											106	81	90					1																	207112590		2203	4300	6503	205179213	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.262C>T	1.37:g.207112590G>A	ENSP00000348888:p.Pro88Ser		205179213	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114650	0.77210	.	.	ENSG00000162896	ENST00000356495	T	0.66638	-0.22	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.162902	0.44483	D	0.000460	T	0.81597	0.4856	M	0.73753	2.245	0.47698	D	0.99949	D	0.76494	0.999	D	0.76071	0.987	T	0.81158	-0.1060	10	0.49607	T	0.09	-22.2557	17.2861	0.87142	0.0:0.0:1.0:0.0	.	88	P01833	PIGR_HUMAN	S	88	ENSP00000348888:P88S	ENSP00000348888:P88S	P	-	1	0	PIGR	205179213	1.000000	0.71417	0.997000	0.53966	0.768000	0.43524	5.833000	0.69349	2.837000	0.97791	0.655000	0.94253	CCG		0.592	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		A	207112590	G	A	207112590	3	1	395	1	0	0	0	0	1	0	0	0	11897	1232	43	2	2068	2	PIGR	1	207112590	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	24567138	207112590	42138031	17	21541											
USH2A	7399	genome.wustl.edu	37	1	215813953	215813953	+	Missense_Mutation	SNP	C	C	T	rs554061688		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:215813953C>T	ENST00000307340.3	-	68	15301	c.14915G>A	c.(14914-14916)cGc>cAc	p.R4972H	USH2A_ENST00000366943.2_Missense_Mutation_p.R4972H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4972					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGTACACGCGTCGCCCTCC	0.547										HNSCC(13;0.011)			C|||	1	0.000199681	0	0.0014	5008	,	,		17108	0		0	False		,,,				2504	0															0			1											133	101	112					1																	215813953		2203	4300	6503	213880576	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14915G>A	1.37:g.215813953C>T	ENSP00000305941:p.Arg4972His		213880576	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479488	0.63849	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13538	2.59;2.58	5.6	4.67	0.58626	Fibronectin, type III (1);	0.000000	0.40064	U	0.001190	T	0.35740	0.0942	M	0.73598	2.24	0.51767	D	0.999933	D	0.89917	1.0	D	0.63957	0.92	T	0.17410	-1.0370	10	0.52906	T	0.07	.	15.6432	0.77025	0.1384:0.8616:0.0:0.0	.	4972	O75445	USH2A_HUMAN	H	4972	ENSP00000305941:R4972H;ENSP00000355910:R4972H	ENSP00000305941:R4972H	R	-	2	0	USH2A	213880576	0.998000	0.40836	0.021000	0.16686	0.015000	0.08874	3.767000	0.55288	1.322000	0.45245	0.591000	0.81541	CGC		0.547	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215813953	C	T	215813953	3	4	395	1	0	0	0	0	1	0	0	0	17036	768	27	1	713	1	USH2A	1	215813953	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	8701363	215813953	33436668	18	21542											
DISP1	84976	genome.wustl.edu	37	1	223178376	223178376	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:223178376A>C	ENST00000284476.6	+	8	3801	c.3637A>C	c.(3637-3639)Acc>Ccc	p.T1213P		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1213					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTATGAAGAGACCCACATCTG	0.468																																																0			1											57	61	60					1																	223178376		2203	4300	6503	221244999	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3637A>C	1.37:g.223178376A>C	ENSP00000284476:p.Thr1213Pro		221244999	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812821	0.32053	.	.	ENSG00000154309	ENST00000284476	D	0.92048	-2.96	5.75	1.95	0.26073	.	0.547984	0.20632	N	0.088567	D	0.84920	0.5579	N	0.20986	0.625	0.26262	N	0.978559	B	0.10296	0.003	B	0.09377	0.004	T	0.71686	-0.4518	10	0.37606	T	0.19	-10.4021	12.3481	0.55132	0.5699:0.4301:0.0:0.0	.	1213	Q96F81	DISP1_HUMAN	P	1213	ENSP00000284476:T1213P	ENSP00000284476:T1213P	T	+	1	0	DISP1	221244999	0.812000	0.29077	0.942000	0.38095	0.956000	0.61745	1.202000	0.32271	0.070000	0.16634	0.459000	0.35465	ACC		0.468	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		C	223178376	A	C	223178376	3	2	395	1	0	0	0	0	1	0	0	0	4539	275	10	5	3663	5	DISP1	1	223178376	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	7364423	223178376	26072245	19	21543											
PARP1	142	genome.wustl.edu	37	1	226551735	226551735	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:226551735C>T	ENST00000366794.5	-	20	2838	c.2695G>A	c.(2695-2697)Gac>Aac	p.D899N	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	899	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GAGACCATGTCAGCGAAATAG	0.473								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								0			1											133	121	125					1																	226551735		2203	4300	6503	224618358	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2695G>A	1.37:g.226551735C>T	ENSP00000355759:p.Asp899Asn		224618358	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	37	5.984091	0.97173	.	.	ENSG00000143799	ENST00000366794	T	0.15372	2.43	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50792	-0.8786	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	899	P09874	PARP1_HUMAN	N	899	ENSP00000355759:D899N	ENSP00000355759:D899N	D	-	1	0	PARP1	224618358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.794000	0.85869	2.941000	0.99782	0.655000	0.94253	GAC		0.473	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		T	226551735	C	T	226551735	3	4	395	1	0	0	0	0	1	0	0	0	11454	826	29	2	365	2	PARP1	1	226551735	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	3373359	226551735	22698886	20	21544											
NLRP3	114548	genome.wustl.edu	37	1	247587804	247587804	+	Silent	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:247587804G>A	ENST00000336119.3	+	3	1805	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	NLRP3_ENST00000366497.2_Silent_p.V353V|NLRP3_ENST00000391828.3_Silent_p.V353V|NLRP3_ENST00000348069.2_Silent_p.V353V|NLRP3_ENST00000391827.2_Silent_p.V353V|NLRP3_ENST00000366496.2_Silent_p.V353V|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	353	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGAGACCTGTGGCCCTGGAGA	0.557																																																0			1											58	61	60					1																	247587804		2203	4300	6503	245654427	SO:0001819	synonymous_variant	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1059G>A	1.37:g.247587804G>A			245654427	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	CCDS1632.1																																																																																				0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		A	247587804	G	A	247587804	2	1	395	1	0	0	0	0	0	0	0	1	10478	1335	47	2		2	NLRP3	1	247587804	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	21036069	247587804	1662817	21	21545											
OR13G1	441933	genome.wustl.edu	37	1	247835658	247835658	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:247835658T>A	ENST00000359688.2	-	1	707	c.686A>T	c.(685-687)gAa>gTa	p.E229V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCTCTTGCCTTCTACTGTGCG	0.458																																																0			1											137	118	125					1																	247835658		2203	4300	6503	245902281	SO:0001583	missense	441933			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.686A>T	1.37:g.247835658T>A	ENSP00000352717:p.Glu229Val		245902281	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.522580	0.27211	.	.	ENSG00000197437	ENST00000359688	T	0.00220	8.52	4.2	-3.21	0.05140	GPCR, rhodopsin-like superfamily (1);	0.686063	0.12591	N	0.455550	T	0.00384	0.0012	M	0.80422	2.495	0.09310	N	1	P	0.36874	0.572	P	0.50754	0.649	T	0.07539	-1.0767	10	0.66056	D	0.02	-2.4299	10.1562	0.42825	0.0:0.0846:0.6563:0.259	.	229	Q8NGZ3	O13G1_HUMAN	V	229	ENSP00000352717:E229V	ENSP00000352717:E229V	E	-	2	0	OR13G1	245902281	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.263000	0.18478	-0.720000	0.04935	0.460000	0.39030	GAA		0.458	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		A	247835658	T	A	247835658	3	1	395	1	0	0	0	0	1	0	0	0	10942	1783	62	5	241	5	OR13G1	1	247835658	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	247854	247835658	1414963	22	21546											
OR2T12	127064	genome.wustl.edu	37	1	248458830	248458830	+	Missense_Mutation	SNP	G	G	C	rs145359340		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr1:248458830G>C	ENST00000317996.1	-	1	50	c.51C>G	c.(49-51)aaC>aaG	p.N17K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CTCTGGTGTGGTTAAAGAGTC	0.463																																																0			1											86	86	86					1																	248458830		2203	4300	6503	246525453	SO:0001583	missense	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.51C>G	1.37:g.248458830G>C	ENSP00000324583:p.Asn17Lys		246525453		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	G	4.108	0.018189	0.07959	.	.	ENSG00000177201	ENST00000317996	T	0.00321	8.11	1.56	0.571	0.17352	.	1.231280	0.06234	N	0.689141	T	0.00241	0.0007	M	0.64567	1.98	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.41752	-0.9491	10	0.29301	T	0.29	.	2.9476	0.05850	0.3039:0.0:0.4845:0.2116	.	17	Q8NG77	O2T12_HUMAN	K	17	ENSP00000324583:N17K	ENSP00000324583:N17K	N	-	3	2	OR2T12	246525453	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-2.527000	0.00946	-0.217000	0.10033	0.184000	0.17185	AAC		0.463	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		C	248458830	G	C	248458830	3	2	395	1	0	0	0	0	1	0	0	0	11019	1252	44	3	914	3	OR2T12	1	248458830	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	623172	248458830	791791	23	21547											
NBAS	51594	genome.wustl.edu	37	2	15557673	15557673	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:15557673T>G	ENST00000281513.5	-	24	2766	c.2741A>C	c.(2740-2742)aAa>aCa	p.K914T	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	914					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAATCTTAGTTTTTCAATGTC	0.328																																																0			2											75	69	71					2																	15557673		2203	4300	6503	15475124	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2741A>C	2.37:g.15557673T>G	ENSP00000281513:p.Lys914Thr		15475124	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.344981|4.344981	0.82022|0.82022	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000429842|ENST00000281513	.|T	.|0.17691	.|2.26	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Secretory pathway Sec39 (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.34745|0.34745	0.0908|0.0908	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|P	.|0.38223	.|0.623	.|P	.|0.47786	.|0.557	T|T	0.09207|0.09207	-1.0685|-1.0685	6|10	.|0.87932	.|D	.|0	.|.	15.9942|15.9942	0.80228|0.80228	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|914	.|A2RRP1	.|NBAS_HUMAN	N|T	11|914	.|ENSP00000281513:K914T	.|ENSP00000281513:K914T	K|K	-|-	3|2	2|0	NBAS|NBAS	15475124|15475124	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.889000|0.889000	0.51656|0.51656	7.579000|7.579000	0.82511|0.82511	2.193000|2.193000	0.70182|0.70182	0.477000|0.477000	0.44152|0.44152	AAA|AAA		0.328	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		G	15557673	T	G	15557673	3	3	395	1	0	0	0	0	1	0	0	0	10186	1841	64	5	4490	5	NBAS	2	15557673	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09		15557673	227641700	24	21548											
COX7A2L	9167	genome.wustl.edu	37	2	42578489	42578489	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:42578489C>T	ENST00000378669.1	-	4	1044	c.215G>A	c.(214-216)gGt>gAt	p.G72D	COX7A2L_ENST00000234301.2_Missense_Mutation_p.G72D|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	72					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						GACGGGCACACCATCAGCTTT	0.448																																																0			2											83	73	76					2																	42578489		2203	4300	6503	42431993	SO:0001583	missense	9167			AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.215G>A	2.37:g.42578489C>T	ENSP00000367938:p.Gly72Asp		42431993	Q9P118	Missense_Mutation	SNP	ENST00000378669.1	37	CCDS1808.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338839	0.41398	.	.	ENSG00000115944	ENST00000378669;ENST00000234301	T;T	0.42131	0.98;0.98	5.39	4.52	0.55395	.	0.105419	0.64402	D	0.000003	T	0.58133	0.2101	M	0.61703	1.905	0.45056	D	0.998075	D	0.71674	0.998	D	0.69654	0.965	T	0.56056	-0.8042	10	0.33141	T	0.24	-13.9512	13.0649	0.59028	0.0:0.9208:0.0:0.0792	.	72	O14548	COX7R_HUMAN	D	72	ENSP00000367938:G72D;ENSP00000234301:G72D	ENSP00000234301:G72D	G	-	2	0	COX7A2L	42431993	1.000000	0.71417	0.890000	0.34922	0.173000	0.22820	5.619000	0.67729	1.266000	0.44231	-0.140000	0.14226	GGT		0.448	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250466.3	NM_004718		T	42578489	C	T	42578489	3	4	395	1	0	0	0	0	1	0	0	0	3781	507	18	2	133	2	COX7A2L	2	42578489	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	27020816	42578489	200620884	25	21549											
SERTAD2	9792	genome.wustl.edu	37	2	64863627	64863627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:64863627C>A	ENST00000313349.3	-	2	676	c.379G>T	c.(379-381)Gag>Tag	p.E127*	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	127					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGCAGGCCTCCAGGGGCGTA	0.692																																																0			2											39	43	42					2																	64863627		2203	4300	6503	64717131	SO:0001587	stop_gained	9792			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.379G>T	2.37:g.64863627C>A	ENSP00000326933:p.Glu127*		64717131	Q53TS2	Nonsense_Mutation	SNP	ENST00000313349.3	37	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481806	0.96307	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.59	5.59	0.84812	.	0.153973	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.6176	19.587	0.95493	0.0:1.0:0.0:0.0	.	.	.	.	X	127	.	ENSP00000326933:E127X	E	-	1	0	SERTAD2	64717131	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.389000	0.79806	2.638000	0.89438	0.655000	0.94253	GAG		0.692	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		A	64863627	C	A	64863627	4	1	395	1	0	0	0	0	0	1	0	0	14124	864	30	3	569	3	SERTAD2	2	64863627	Nonsense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	22285138	64863627	178335746	26	21550											
ZNF638	27332	genome.wustl.edu	37	2	71592676	71592676	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:71592676C>T	ENST00000409544.1	+	6	2465	c.1835C>T	c.(1834-1836)aCt>aTt	p.T612I	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.T612I|ZNF638_ENST00000264447.4_Missense_Mutation_p.T612I|ZNF638_ENST00000355812.3_Missense_Mutation_p.T612I	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	612					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGCCTAAAACTAGCAGTGGA	0.388																																																0			2											99	94	96					2																	71592676		2203	4300	6503	71446184	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1835C>T	2.37:g.71592676C>T	ENSP00000386433:p.Thr612Ile		71446184	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	9.338	1.062304	0.19987	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.72394	-0.06;-0.65;0.52;-0.05;1.52;1.52	5.69	0.732	0.18283	.	0.784413	0.12240	N	0.486639	T	0.47395	0.1443	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.002;0.001;0.001;0.0;0.0	B;B;B;B;B;B	0.14578	0.001;0.011;0.003;0.002;0.001;0.003	T	0.18429	-1.0337	10	0.18276	T	0.48	7.0E-4	0.2639	0.00222	0.2049:0.292:0.2004:0.3027	.	612;718;612;612;612;612	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	I	612;718;191;612;612;612;612	ENSP00000386669:T612I;ENSP00000438189:T718I;ENSP00000348066:T612I;ENSP00000367033:T612I;ENSP00000264447:T612I;ENSP00000386433:T612I	ENSP00000264447:T612I	T	+	2	0	ZNF638	71446184	0.001000	0.12720	0.365000	0.25901	0.945000	0.59286	-0.452000	0.06787	0.552000	0.29026	0.563000	0.77884	ACT		0.388	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		T	71592676	C	T	71592676	3	4	395	1	0	0	0	0	1	0	0	0	18055	565	20	2	1853	2	ZNF638	2	71592676	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	6729049	71592676	171606697	27	21551											
PTPN4	5775	genome.wustl.edu	37	2	120723115	120723115	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:120723115T>C	ENST00000263708.2	+	25	3223	c.2452T>C	c.(2452-2454)Tgg>Cgg	p.W818R	PTPN4_ENST00000544261.1_Missense_Mutation_p.W451R	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	818	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GTACATAGCCTGGCCTGACCA	0.413																																																0			2											147	126	133					2																	120723115		2203	4300	6503	120439585	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2452T>C	2.37:g.120723115T>C	ENSP00000263708:p.Trp818Arg		120439585	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.513879|4.513879	0.85389|0.85389	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	.|D;D	.|0.96491	.|-4.03;-4.03	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99205|0.99205	0.9724|0.9724	H|H	0.99887|0.99887	4.895|4.895	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.98427|0.98427	1.0580|1.0580	5|10	.|0.87932	.|D	.|0	.|.	16.0205|16.0205	0.80486|0.80486	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|818	.|P29074	.|PTN4_HUMAN	P|R	101|818;451	.|ENSP00000263708:W818R;ENSP00000445841:W451R	.|ENSP00000263708:W818R	L|W	+|+	2|1	0|0	PTPN4|PTPN4	120439585|120439585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.842000|7.842000	0.86851|0.86851	2.194000|2.194000	0.70268|0.70268	0.533000|0.533000	0.62120|0.62120	CTG|TGG		0.413	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			C	120723115	T	C	120723115	3	2	395	1	0	0	0	0	1	0	0	0	12793	1580	55	4	2546	4	PTPN4	2	120723115	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	49130439	120723115	122476258	28	21552											
RAB3GAP1	22930	genome.wustl.edu	37	2	135908055	135908055	+	Silent	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:135908055C>T	ENST00000264158.8	+	18	2083	c.2040C>T	c.(2038-2040)ctC>ctT	p.L680L	RAB3GAP1_ENST00000539493.1_Silent_p.L636L|RAB3GAP1_ENST00000442034.1_Silent_p.L680L|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	680					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CCTGTCTGCTCTCAGATATGG	0.473																																																0			2											71	69	70					2																	135908055		2203	4300	6503	135624525	SO:0001819	synonymous_variant	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2040C>T	2.37:g.135908055C>T			135624525	A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	ENST00000264158.8	37	CCDS33294.1																																																																																				0.473	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		T	135908055	C	T	135908055	2	4	395	1	0	0	0	0	0	0	0	1	12938	900	32	2		2	RAB3GAP1	2	135908055	Silent	SNP	C	TCGA-36-2547-01A-01D-1526-09	15184940	135908055	107291318	29	21553											
SCN3A	6328	genome.wustl.edu	37	2	165947357	165947357	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:165947357A>T	ENST00000360093.3	-	28	5797	c.5306T>A	c.(5305-5307)gTc>gAc	p.V1769D	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.V1769D|SCN3A_ENST00000409101.3_Missense_Mutation_p.V1720D|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Missense_Mutation_p.V252D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1769					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCAGGATGACCGCGATGTA	0.448																																																0			2											119	118	118					2																	165947357		2203	4298	6501	165655603	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5306T>A	2.37:g.165947357A>T	ENSP00000353206:p.Val1769Asp		165655603	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	A	18.13	3.554643	0.65425	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45	6.13	6.13	0.99165	.	0.000000	0.64402	D	0.000017	D	0.99603	0.9856	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	0.996;0.993;1.0	D;D;D	0.80764	0.919;0.962;0.994	D	0.97695	1.0181	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1720;1720;1769	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	D	1769;1769;1720;252	ENSP00000353206:V1769D;ENSP00000283254:V1769D;ENSP00000386726:V1720D;ENSP00000439920:V252D	ENSP00000283254:V1769D	V	-	2	0	SCN3A	165655603	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.336000	0.96533	2.367000	0.80283	0.529000	0.55759	GTC		0.448	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		T	165947357	A	T	165947357	3	4	395	1	0	0	0	0	1	0	0	0	13921	275	10	5	700	5	SCN3A	2	165947357	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	30039302	165947357	77252016	30	21554											
SLC25A12	8604	genome.wustl.edu	37	2	172648092	172648092	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:172648092T>G	ENST00000422440.2	-	15	1491	c.1454A>C	c.(1453-1455)aAa>aCa	p.K485T	SLC25A12_ENST00000392592.4_Missense_Mutation_p.K378T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	485					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAAACACGCTTTGGCACCCTG	0.453																																																0			2											94	89	91					2																	172648092		2203	4300	6503	172356338	SO:0001583	missense	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1454A>C	2.37:g.172648092T>G	ENSP00000388658:p.Lys485Thr		172356338	B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354766	0.61293	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.77750	-1.12;-1.12	6.07	6.07	0.98685	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	N	0.00135	-2.02	0.58432	D	0.999999	D;P	0.59767	0.986;0.902	P;P	0.58130	0.833;0.793	T	0.72330	-0.4326	10	0.14656	T	0.56	-16.621	16.6407	0.85098	0.0:0.0:0.0:1.0	.	378;485	B3KR64;O75746	.;CMC1_HUMAN	T	485;378	ENSP00000388658:K485T;ENSP00000376371:K378T	ENSP00000376371:K378T	K	-	2	0	SLC25A12	172356338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.326000	0.78906	0.533000	0.62120	AAA		0.453	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		G	172648092	T	G	172648092	3	3	395	1	0	0	0	0	1	0	0	0	14477	1841	64	5	598	5	SLC25A12	2	172648092	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	6700735	172648092	70551281	31	21555											
MAP2	4133	genome.wustl.edu	37	2	210569343	210569343	+	Intron	SNP	A	A	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:210569343A>T	ENST00000360351.4	+	11	5090				MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Splice_Site_p.K229M|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCAGGGAACAAGGTAAGGCGG	0.408																																					Pancreas(27;423 979 28787 29963)											0			2											111	114	113					2																	210569343		2203	4299	6502	210277588	SO:0001627	intron_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4585-961A>T	2.37:g.210569343A>T			210277588	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195650	0.78902	.	.	ENSG00000078018	ENST00000199940;ENST00000452717	T;T	0.49720	1.83;0.77	5.03	5.03	0.67393	.	.	.	.	.	T	0.44074	0.1276	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	P	0.51453	0.67	T	0.42015	-0.9476	9	0.48119	T	0.1	.	13.3006	0.60324	1.0:0.0:0.0:0.0	.	229	Q8IUX2	.	M	229;171	ENSP00000199940:K229M;ENSP00000388824:K171M	ENSP00000199940:K229M	K	+	2	0	MAP2	210277588	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.259000	0.58828	1.889000	0.54706	0.482000	0.46254	AAG		0.408	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		T	210569343	A	T	210569343	1	4	395	0	1	0	0	0	0	0	0	0	9235	86	3	5		5	MAP2	2	210569343	Intron	SNP	A	TCGA-36-2547-01A-01D-1526-09	37921251	210569343	32630030	32	21556											
CHPF	79586	genome.wustl.edu	37	2	220405693	220405693	+	Missense_Mutation	SNP	G	G	A	rs377574209		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:220405693G>A	ENST00000243776.6	-	3	1291	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000535926.1_Missense_Mutation_p.T186M	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	348					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTCCTGGTACGTGCGTTCCAG	0.572																																																0			2											93	75	81					2																	220405693		2203	4300	6503	220113937	SO:0001583	missense	79586			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1043C>T	2.37:g.220405693G>A	ENSP00000243776:p.Thr348Met		220113937	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744031	0.89663	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.15256	2.44;2.44	4.63	4.63	0.57726	.	0.063187	0.64402	D	0.000007	T	0.42291	0.1196	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.31251	-0.9950	10	0.54805	T	0.06	-14.4533	18.0706	0.89405	0.0:0.0:1.0:0.0	.	348	Q8IZ52	CHSS2_HUMAN	M	348;186	ENSP00000243776:T348M;ENSP00000445571:T186M	ENSP00000243776:T348M	T	-	2	0	CHPF	220113937	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	7.781000	0.85668	2.575000	0.86900	0.655000	0.94253	ACG		0.572	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		A	220405693	G	A	220405693	3	1	395	1	0	0	0	0	1	0	0	0	3368	1145	40	1	1292	1	CHPF	2	220405693	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	9836350	220405693	22793680	33	21557											
PSMD1	5707	genome.wustl.edu	37	2	231926010	231926010	+	Nonsense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr2:231926010G>T	ENST00000308696.6	+	2	208	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	PSMD1_ENST00000409643.1_Nonsense_Mutation_p.E16*|PSMD1_ENST00000373635.4_Nonsense_Mutation_p.E16*	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	16					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGATGAAGATGAACCACAGCT	0.328																																																0			2											130	126	127					2																	231926010		2203	4300	6503	231634254	SO:0001587	stop_gained	5707			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.46G>T	2.37:g.231926010G>T	ENSP00000309474:p.Glu16*		231634254	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Nonsense_Mutation	SNP	ENST00000308696.6	37	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	37	6.610142	0.97705	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	.	.	.	5.87	5.87	0.94306	.	0.044468	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	1.7842	20.2191	0.98319	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000309474:E16X	E	+	1	0	PSMD1	231634254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.985000	0.93487	2.780000	0.95670	0.655000	0.94253	GAA		0.328	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			T	231926010	G	T	231926010	4	4	395	1	0	0	0	0	0	1	0	0	12695	1291	45	3	52	3	PSMD1	2	231926010	Nonsense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	11520317	231926010	11273363	34	21558											
IL17RC	84818	genome.wustl.edu	37	3	9975017	9975017	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr3:9975017G>C	ENST00000295981.3	+	19	2334	c.2116G>C	c.(2116-2118)Gac>Cac	p.D706H	IL17RC_ENST00000413608.1_Missense_Mutation_p.D622H|IL17RC_ENST00000498214.1_3'UTR|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000403601.3_Missense_Mutation_p.D635H|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000455057.1_Missense_Mutation_p.D603H|CRELD1_ENST00000326434.5_5'Flank|CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000416074.2_Missense_Mutation_p.D461H|IL17RC_ENST00000383812.4_Missense_Mutation_p.D620H	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	706	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCCTGCTTCGACAGGCTGCT	0.721																																																0			3											11	13	12					3																	9975017		2179	4253	6432	9950017	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.2116G>C	3.37:g.9975017G>C	ENSP00000295981:p.Asp706His		9950017	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634244	0.67130	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T	0.50813	1.73;1.72;1.73;0.73;1.73	5.05	5.05	0.67936	SEFIR (1);	0.355351	0.25851	N	0.027881	T	0.60805	0.2297	L	0.47716	1.5	0.32684	N	0.515064	D;P;P;D;D;P;D;D	0.76494	0.999;0.778;0.778;0.999;0.999;0.737;0.994;0.983	D;B;P;D;D;B;D;P	0.70935	0.951;0.377;0.472;0.971;0.971;0.341;0.947;0.829	T	0.70142	-0.4953	10	0.72032	D	0.01	-12.2448	13.9224	0.63940	0.0:0.0:1.0:0.0	.	461;603;605;622;461;620;706;635	F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;I17RC_HUMAN;.	H	620;706;635;461;603;622	ENSP00000373323:D620H;ENSP00000295981:D706H;ENSP00000384969:D635H;ENSP00000407894:D603H;ENSP00000396064:D622H	ENSP00000295981:D706H	D	+	1	0	IL17RC	9950017	0.969000	0.33509	0.989000	0.46669	0.519000	0.34347	2.533000	0.45667	2.355000	0.79922	0.555000	0.69702	GAC		0.721	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		C	9975017	G	C	9975017	3	2	395	1	0	0	0	0	1	0	0	0	7641	1058	37	3	2190	3	IL17RC	3	9975017	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09		9975017	188047413	35	21559											
MYD88	4615	genome.wustl.edu	37	3	38182744	38182744	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr3:38182744G>C	ENST00000396334.3	+	5	1081	c.897G>C	c.(895-897)tgG>tgC	p.W299C	MYD88_ENST00000443433.2_3'UTR|MYD88_ENST00000424893.1_Missense_Mutation_p.W254C|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000495303.1_3'UTR|MYD88_ENST00000417037.2_Missense_Mutation_p.W307C	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	286					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTGGTTCTGGACTCGCCTTG	0.547			Mis		ABC-DLBCL																																		Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	0			3											211	175	187					3																	38182744		2203	4300	6503	38157748	SO:0001583	missense	4615			U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.897G>C	3.37:g.38182744G>C	ENSP00000379625:p.Trp299Cys		38157748	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000396334.3	37	CCDS2674.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794371	0.90453	.	.	ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.52	5.52	0.82312	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.066130	0.64402	D	0.000003	T	0.52175	0.1718	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.60561	-0.7239	10	0.87932	D	0	-19.1009	18.8132	0.92065	0.0:0.0:1.0:0.0	.	241;286;275	Q99836-2;Q99836;B4E3D6	.;MYD88_HUMAN;.	C	307;299;254;306;275	ENSP00000401399:W307C;ENSP00000379625:W299C;ENSP00000389979:W254C;ENSP00000391753:W306C	ENSP00000379625:W299C	W	+	3	0	MYD88	38157748	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.355000	0.97087	2.767000	0.95098	0.655000	0.94253	TGG		0.547	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468		C	38182744	G	C	38182744	3	2	395	1	0	0	0	0	1	0	0	0	10023	1183	41	3	939	3	MYD88	3	38182744	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	28207727	38182744	159839686	36	21560											
COL7A1	1294	genome.wustl.edu	37	3	48604107	48604107	+	Missense_Mutation	SNP	C	C	T	rs141883531		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr3:48604107C>T	ENST00000328333.8	-	111	8397	c.8290G>A	c.(8290-8292)Gag>Aag	p.E2764K	COL7A1_ENST00000470076.1_5'Flank|COL7A1_ENST00000454817.1_Missense_Mutation_p.E2732K|UCN2_ENST00000273610.3_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2764	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCCCTCTCTCGCCAGGAGCT	0.632																																																0			3						C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	116	127	124		8290	5.1	1	3	dbSNP_134	124	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	2764/2945	48604107	2,13004	2203	4300	6503	48579111	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8290G>A	3.37:g.48604107C>T	ENSP00000332371:p.Glu2764Lys		48579111	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444282	0.43429	4.54E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94138	-3.36;-3.36	5.12	5.12	0.69794	.	0.000000	0.44688	D	0.000437	D	0.92548	0.7633	L	0.42008	1.315	0.42338	D	0.992325	D	0.59767	0.986	P	0.54815	0.761	D	0.89958	0.4084	10	0.10377	T	0.69	.	15.2884	0.73849	0.0:1.0:0.0:0.0	.	2764	Q02388	CO7A1_HUMAN	K	2764;2732	ENSP00000332371:E2764K;ENSP00000412569:E2732K	ENSP00000332371:E2764K	E	-	1	0	COL7A1	48579111	1.000000	0.71417	0.980000	0.43619	0.396000	0.30629	4.816000	0.62642	2.404000	0.81709	0.467000	0.42956	GAG		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		T	48604107	C	T	48604107	3	4	395	1	0	0	0	0	1	0	0	0	3704	893	31	1	576	1	COL7A1	3	48604107	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	10421363	48604107	149418323	37	21561											
MORC1	27136	genome.wustl.edu	37	3	108818261	108818261	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr3:108818261T>A	ENST00000483760.1	-	6	410	c.367A>T	c.(367-369)Acg>Tcg	p.T123S	MORC1_ENST00000232603.5_Missense_Mutation_p.T123S|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAGGTCATCGTTTCTTCCTTC	0.338																																																0			3											125	124	124					3																	108818261		2201	4299	6500	110300951	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.367A>T	3.37:g.108818261T>A	ENSP00000417282:p.Thr123Ser		110300951		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	T	16.48	3.134397	0.56828	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.94650	-3.48;-3.48	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (3);	0.000000	0.50627	D	0.000108	D	0.93772	0.8009	L	0.28556	0.865	0.25679	N	0.985815	D;B	0.76494	0.999;0.41	D;P	0.72625	0.978;0.672	D	0.86674	0.1912	10	0.37606	T	0.19	-13.7836	8.0015	0.30299	0.1816:0.0:0.0:0.8184	.	123;123	E7ERX1;Q86VD1	.;MORC1_HUMAN	S	123	ENSP00000232603:T123S;ENSP00000417282:T123S	ENSP00000232603:T123S	T	-	1	0	MORC1	110300951	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.933000	0.56545	2.135000	0.66039	0.454000	0.30748	ACG		0.338	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108818261	T	A	108818261	3	1	395	1	0	0	0	0	1	0	0	0	9701	1725	60	5	2679	5	MORC1	3	108818261	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	60214154	108818261	89204169	38	21562											
LSAMP	4045	genome.wustl.edu	37	3	115561369	115561369	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr3:115561369A>T	ENST00000490035.2	-	5	1205	c.706T>A	c.(706-708)Tca>Aca	p.S236T	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.S233T	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	236	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CATTTGAGTGAAGCTTGTCGT	0.532																																																0			3											223	179	194					3																	115561369		2203	4300	6503	117044059	SO:0001583	missense	4045			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.706T>A	3.37:g.115561369A>T	ENSP00000419000:p.Ser236Thr		117044059	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.668890	0.29604	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.66815	-0.23;-0.23;-0.23	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.412504	0.27126	N	0.020812	T	0.35653	0.0939	N	0.01134	-0.995	0.27555	N	0.950377	B;B	0.06786	0.001;0.0	B;B	0.15052	0.004;0.012	T	0.22277	-1.0221	10	0.24483	T	0.36	-4.9794	11.1137	0.48247	0.8622:0.0:0.0:0.1378	.	236;236	B2RCU8;Q13449	.;LSAMP_HUMAN	T	220;236;233	ENSP00000328455:S220T;ENSP00000419000:S236T;ENSP00000443429:S233T	ENSP00000328455:S220T	S	-	1	0	LSAMP	117044059	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.773000	0.38563	2.185000	0.69588	0.528000	0.53228	TCA		0.532	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		T	115561369	A	T	115561369	3	4	395	1	0	0	0	0	1	0	0	0	9048	246	9	5	322	5	LSAMP	3	115561369	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	6743108	115561369	82461061	39	21563											
SHOX2	6474	genome.wustl.edu	37	3	157820636	157820636	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr3:157820636C>G	ENST00000425436.3	-	2	411	c.386G>C	c.(385-387)gGg>gCg	p.G129A	SHOX2_ENST00000483851.2_Missense_Mutation_p.G129A|SHOX2_ENST00000490689.2_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.G153A|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	129					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTCCTCCATCCCTTTCGCATC	0.572																																																0			3											163	135	145					3																	157820636		2203	4300	6503	159303330	SO:0001583	missense	6474			AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.386G>C	3.37:g.157820636C>G	ENSP00000398704:p.Gly129Ala		159303330	O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	CCDS43164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.86|10.86	1.468871|1.468871	0.26335|0.26335	.|.	.|.	ENSG00000168779;ENSG00000168779;ENSG00000258518|ENSG00000168779	ENST00000425436;ENST00000389589;ENST00000483851|ENST00000555977	T;D;D|.	0.94000|.	1.53;-3.33;-3.33|.	5.47|5.47	4.51|4.51	0.55191|0.55191	Homeodomain-related (1);|.	0.286505|.	0.28983|.	N|.	0.013517|.	T|T	0.37100|0.37100	0.0991|0.0991	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.17038|.	0.02;0.019;0.002|.	B;B;B|.	0.21360|.	0.013;0.034;0.004|.	T|T	0.19192|0.19192	-1.0313|-1.0313	10|5	0.12430|.	T|.	0.62|.	.|.	13.2587|13.2587	0.60093|0.60093	0.1447:0.7514:0.104:0.0|0.1447:0.7514:0.104:0.0	.|.	129;153;129|.	O60902-2;O60902-3;O60902|.	.;.;SHOX2_HUMAN|.	A|S	153;129;129|32	ENSP00000398704:G153A;ENSP00000374240:G129A;ENSP00000419362:G129A|.	ENSP00000374240:G129A|.	G|R	-|-	2|3	0|2	SHOX2;AC112502.1|SHOX2	159303330|159303330	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.108000|1.108000	0.31123|0.31123	2.567000|2.567000	0.86603|0.86603	0.643000|0.643000	0.83706|0.83706	GGG|AGG		0.572	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			G	157820636	C	G	157820636	3	3	395	1	0	0	0	0	1	0	0	0	14292	623	22	3	625	3	SHOX2	3	157820636	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	42259267	157820636	40201794	40	21564											
JAKMIP1	152789	genome.wustl.edu	37	4	6114562	6114562	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr4:6114562G>A	ENST00000282924.5	-	2	501	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R6W|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R6W|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R6W|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R6W	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	6	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCTTGCTCCGGCCTTTCTTC	0.627																																																0			4											99	76	84					4																	6114562		2203	4300	6503	6165463	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.16C>T	4.37:g.6114562G>A	ENSP00000282924:p.Arg6Trp		6165463	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480083	0.63849	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.43294	1.32;1.0;1.31;1.31;0.95	3.94	3.94	0.45596	.	0.000000	0.64402	D	0.000015	T	0.62901	0.2466	M	0.74881	2.28	0.30399	N	0.780174	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.69654	0.938;0.958;0.965;0.938;0.958	T	0.67019	-0.5776	10	0.87932	D	0	.	15.1499	0.72689	0.0:0.0:1.0:0.0	.	6;6;6;6;6	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	W	6	ENSP00000386711:R6W;ENSP00000387042:R6W;ENSP00000282924:R6W;ENSP00000386925:R6W;ENSP00000386745:R6W	ENSP00000282924:R6W	R	-	1	2	JAKMIP1	6165463	1.000000	0.71417	0.998000	0.56505	0.642000	0.38348	6.181000	0.71988	2.041000	0.60428	0.591000	0.81541	CGG		0.627	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		A	6114562	G	A	6114562	3	1	395	1	0	0	0	0	1	0	0	0	7940	1115	39	1	2634	1	JAKMIP1	4	6114562	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09		6114562	185039714	41	21565											
WDFY3	23001	genome.wustl.edu	37	4	85696070	85696070	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr4:85696070G>C	ENST00000295888.4	-	29	5064	c.4657C>G	c.(4657-4659)Ctt>Gtt	p.L1553V	WDFY3_ENST00000322366.6_Missense_Mutation_p.L1553V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1553					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATATCTCGAAGAGTCAGGAGC	0.393																																																0			4											128	135	133					4																	85696070		2203	4300	6503	85915094	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4657C>G	4.37:g.85696070G>C	ENSP00000295888:p.Leu1553Val		85915094	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894366	0.52121	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.61158	0.13;0.13	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	L	0.58583	1.82	0.80722	D	1	P	0.44044	0.825	B	0.39419	0.299	T	0.63739	-0.6569	10	0.56958	D	0.05	.	19.4007	0.94629	0.0:0.0:1.0:0.0	.	1553	Q8IZQ1	WDFY3_HUMAN	V	1553	ENSP00000318466:L1553V;ENSP00000295888:L1553V	ENSP00000295888:L1553V	L	-	1	0	WDFY3	85915094	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.672000	0.74477	2.650000	0.89964	0.655000	0.94253	CTT		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		C	85696070	G	C	85696070	3	2	395	1	0	0	0	0	1	0	0	0	17270	942	33	3	6083	3	WDFY3	4	85696070	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	79581508	85696070	105458206	42	21566											
ABCG2	9429	genome.wustl.edu	37	4	89042873	89042873	+	Silent	SNP	G	G	T	rs141546179		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr4:89042873G>T	ENST00000237612.3	-	6	1148	c.603C>A	c.(601-603)atC>atA	p.I201I	ABCG2_ENST00000515655.1_Silent_p.I201I	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	201	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	AAGGATCAGTGATAAGCTCCA	0.408																																																0			4											147	139	142					4																	89042873		2203	4300	6503	89261897	SO:0001819	synonymous_variant	9429			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.603C>A	4.37:g.89042873G>T			89261897	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	CCDS3628.1																																																																																				0.408	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		T	89042873	G	T	89042873	2	4	395	1	0	0	0	0	0	0	0	1	69	1280	45	3		3	ABCG2	4	89042873	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	3346803	89042873	102111403	43	21567											
HERC3	8916	genome.wustl.edu	37	4	89577085	89577085	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr4:89577085C>G	ENST00000402738.1	+	9	1207	c.968C>G	c.(967-969)gCa>gGa	p.A323G	HERC3_ENST00000264345.3_Missense_Mutation_p.A323G|HERC3_ENST00000407637.1_Missense_Mutation_p.A323G|HERC3_ENST00000543130.1_5'Flank	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	323					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GGTTGTGGAGCAAGAGGTCAA	0.463																																																0			4											207	188	194					4																	89577085		2203	4300	6503	89796108	SO:0001583	missense	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.968C>G	4.37:g.89577085C>G	ENSP00000385684:p.Ala323Gly		89796108	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	2.399	-0.338070	0.05278	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	D;D;D	0.84730	-1.89;-1.89;-1.89	4.66	3.82	0.43975	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.301028	0.37437	N	0.002085	T	0.49949	0.1587	N	0.00358	-1.6	0.80722	D	1	B;B	0.23650	0.0;0.089	B;B	0.22386	0.001;0.039	T	0.57636	-0.7777	10	0.02654	T	1	.	7.0043	0.24828	0.3094:0.611:0.0:0.0795	.	323;323	Q15034;Q8IXX3	HERC3_HUMAN;.	G	323	ENSP00000385684:A323G;ENSP00000384005:A323G;ENSP00000264345:A323G	ENSP00000264345:A323G	A	+	2	0	HERC3	89796108	0.758000	0.28405	0.997000	0.53966	0.999000	0.98932	1.174000	0.31932	1.186000	0.42985	0.655000	0.94253	GCA		0.463	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		G	89577085	C	G	89577085	3	3	395	1	0	0	0	0	1	0	0	0	7059	710	25	3	994	3	HERC3	4	89577085	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	534212	89577085	101577191	44	21568											
CEP72	55722	genome.wustl.edu	37	5	647995	647995	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:647995T>A	ENST00000264935.5	+	11	1832	c.1742T>A	c.(1741-1743)aTc>aAc	p.I581N	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	581					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TACGACAAGATCCAGGAGCTC	0.562																																																0			5											56	53	54					5																	647995		2201	4295	6496	700995	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1742T>A	5.37:g.647995T>A	ENSP00000264935:p.Ile581Asn		700995	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095680	0.56075	.	.	ENSG00000112877	ENST00000264935	T	0.12255	2.7	4.53	4.53	0.55603	.	0.438864	0.20167	N	0.097815	T	0.29458	0.0734	M	0.69823	2.125	0.80722	D	1	D	0.58970	0.984	P	0.57371	0.819	T	0.02860	-1.1101	10	0.87932	D	0	-11.499	10.5454	0.45058	0.0:0.0:0.0:1.0	.	581	Q9P209	CEP72_HUMAN	N	581	ENSP00000264935:I581N	ENSP00000264935:I581N	I	+	2	0	CEP72	700995	0.998000	0.40836	0.981000	0.43875	0.968000	0.65278	1.804000	0.38873	1.815000	0.52974	0.459000	0.35465	ATC		0.562	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		A	647995	T	A	647995	3	1	395	1	0	0	0	0	1	0	0	0	3260	1435	50	5	1784	5	CEP72	5	647995	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09		647995	180267265	45	21569											
ADAMTS12	81792	genome.wustl.edu	37	5	33637690	33637690	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:33637690A>C	ENST00000504830.1	-	12	2215	c.1880T>G	c.(1879-1881)tTt>tGt	p.F627C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.F627C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	627	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCTGGGTTAAAAATGGGAAA	0.463										HNSCC(64;0.19)																																						0			5											124	127	126					5																	33637690		2203	4300	6503	33673447	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1880T>G	5.37:g.33637690A>C	ENSP00000422554:p.Phe627Cys		33673447	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628244	0.46944	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59364	3.9;0.27	5.98	4.84	0.62591	.	0.303746	0.37857	N	0.001904	T	0.67906	0.2943	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.98	D;P	0.69479	0.964;0.719	T	0.68379	-0.5424	10	0.38643	T	0.18	.	5.1174	0.14843	0.648:0.0:0.0813:0.2707	.	627;627	P58397-3;P58397	.;ATS12_HUMAN	C	627	ENSP00000422554:F627C;ENSP00000344847:F627C	ENSP00000344847:F627C	F	-	2	0	ADAMTS12	33673447	0.914000	0.31030	0.994000	0.49952	0.733000	0.41908	0.718000	0.25866	2.289000	0.77006	0.528000	0.53228	TTT		0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		C	33637690	A	C	33637690	3	2	395	1	0	0	0	0	1	0	0	0	257	14	1	5	2956	5	ADAMTS12	5	33637690	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	32989695	33637690	147277570	46	21570											
LMBRD2	92255	genome.wustl.edu	37	5	36123035	36123035	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:36123035C>A	ENST00000296603.4	-	8	1313	c.851G>T	c.(850-852)gGt>gTt	p.G284V		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	284						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATGTTCCTACCCATTTTTTC	0.244																																																0			5											77	78	77					5																	36123035		2202	4290	6492	36158792	SO:0001583	missense	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.851G>T	5.37:g.36123035C>A	ENSP00000296603:p.Gly284Val		36158792	B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537920	0.85917	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.31510	1.49	5.39	5.39	0.77823	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	T	0.21724	-1.0237	10	0.32370	T	0.25	-13.582	19.5261	0.95208	0.0:1.0:0.0:0.0	.	284	Q68DH5	LMBD2_HUMAN	V	284;178	ENSP00000296603:G284V	ENSP00000296603:G284V	G	-	2	0	LMBRD2	36158792	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.463000	0.60128	2.668000	0.90789	0.650000	0.86243	GGT		0.244	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		A	36123035	C	A	36123035	3	1	395	1	0	0	0	0	1	0	0	0	8843	507	18	3	1280	3	LMBRD2	5	36123035	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	2485345	36123035	144792225	47	21571											
EGFLAM	133584	genome.wustl.edu	37	5	38458444	38458444	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:38458444A>G	ENST00000354891.3	+	21	3089	c.2743A>G	c.(2743-2745)Atg>Gtg	p.M915V	EGFLAM_ENST00000397210.3_Missense_Mutation_p.M50V|EGFLAM_ENST00000397202.2_Missense_Mutation_p.M273V|EGFLAM_ENST00000506135.1_Missense_Mutation_p.M50V|EGFLAM_ENST00000514476.1_Missense_Mutation_p.M50V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.M673V|EGFLAM_ENST00000322350.5_Missense_Mutation_p.M907V|CTD-2263F21.1_ENST00000510469.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	915	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCATCCATCATGGTGAATGG	0.532																																					Colon(62;485 1295 3347 17454)											0			5											172	152	159					5																	38458444		2203	4300	6503	38494201	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2743A>G	5.37:g.38458444A>G	ENSP00000346964:p.Met915Val		38494201	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	2.839	-0.241002	0.05906	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;0.05;0.05;-1.13;0.05	5.46	2.75	0.32379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.258573	0.44902	D	0.000419	T	0.45955	0.1368	N	0.01751	-0.74	0.25090	N	0.990865	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.29941	-0.9995	10	0.20519	T	0.43	-2.3555	5.1684	0.15098	0.6385:0.1592:0.2023:0.0	.	673;915;907	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	V	915;907;673;273;673;50;50;50;50	ENSP00000346964:M915V;ENSP00000313084:M907V;ENSP00000337607:M673V;ENSP00000380385:M273V;ENSP00000380393:M50V;ENSP00000425579:M50V;ENSP00000427228:M50V;ENSP00000423228:M50V	ENSP00000313084:M907V	M	+	1	0	EGFLAM	38494201	0.178000	0.23122	1.000000	0.80357	0.993000	0.82548	0.864000	0.27926	0.980000	0.38523	0.533000	0.62120	ATG		0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		G	38458444	A	G	38458444	3	3	395	1	0	0	0	0	1	0	0	0	4966	217	8	4	2811	4	EGFLAM	5	38458444	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	2335409	38458444	142456816	48	21572											
C6	729	genome.wustl.edu	37	5	41149448	41149448	+	Missense_Mutation	SNP	C	C	T	rs142836385	byFrequency	TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:41149448C>T	ENST00000263413.3	-	17	2782	c.2518G>A	c.(2518-2520)Ggc>Agc	p.G840S	C6_ENST00000337836.5_Missense_Mutation_p.G840S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	840	C5b-binding domain.|Factor I module (FIM) 1.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AACTGGCGGCCGTCTTGGCAG	0.423													C|||	13	0.00259585	8e-04	0.0029	5008	,	,		18133	0		0.0099	False		,,,				2504	0															0			5						C	SER/GLY,SER/GLY	0,4406		0,0,2203	139	136	137		2518,2518	5.8	0.8	5	dbSNP_134	137	28,8572	18.5+/-59.3	1,26,4273	yes	missense,missense	C6	NM_000065.2,NM_001115131.1	56,56	1,26,6476	TT,TC,CC		0.3256,0.0,0.2153	possibly-damaging,possibly-damaging	840/935,840/935	41149448	28,12978	2203	4300	6503	41185205	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2518G>A	5.37:g.41149448C>T	ENSP00000263413:p.Gly840Ser		41185205		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	12	0.005494505494505495	0	0.0	3	0.008287292817679558	0	0.0	9	0.011873350923482849	C	5.530	0.282643	0.10458	0.0	0.003256	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.59502	0.26;0.26	5.85	5.85	0.93711	.	0.306075	0.37053	N	0.002274	T	0.24699	0.0599	N	0.14661	0.345	0.23661	N	0.997178	B	0.31837	0.342	B	0.16722	0.016	T	0.15578	-1.0432	10	0.07644	T	0.81	-20.1278	11.1365	0.48377	0.0:0.8891:0.0:0.1109	.	840	P13671	CO6_HUMAN	S	840	ENSP00000338861:G840S;ENSP00000263413:G840S	ENSP00000263413:G840S	G	-	1	0	C6	41185205	0.003000	0.15002	0.818000	0.32626	0.207000	0.24258	0.821000	0.27338	2.768000	0.95171	0.655000	0.94253	GGC		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			T	41149448	C	T	41149448	3	4	395	1	0	0	0	0	1	0	0	0	2315	652	23	1	294	1	C6	5	41149448	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	2691004	41149448	139765812	49	21573											
ANKRD55	79722	genome.wustl.edu	37	5	55439720	55439720	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:55439720G>C	ENST00000341048.4	-	7	671	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	RNA5SP184_ENST00000411071.1_RNA|ANKRD55_ENST00000513241.2_Missense_Mutation_p.Q145E|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	174										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGTTGAGGCTGGTTGTGGAAA	0.532																																																0			5											250	248	248					5																	55439720		2203	4300	6503	55475477	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.520C>G	5.37:g.55439720G>C	ENSP00000342295:p.Gln174Glu		55475477	B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046990	0.55110	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000513241	D;D	0.83250	-1.7;-1.7	5.5	4.58	0.56647	.	0.371296	0.25500	N	0.030260	T	0.74604	0.3738	N	0.25485	0.75	0.21355	N	0.999715	B	0.16802	0.019	B	0.22152	0.038	T	0.66618	-0.5878	10	0.51188	T	0.08	.	13.985	0.64328	0.0:0.0:0.7626:0.2374	.	174	B3KVT8	.	E	174;174;145	ENSP00000342295:Q174E;ENSP00000423507:Q145E	ENSP00000342295:Q174E	Q	-	1	0	ANKRD55	55475477	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.195000	0.51013	2.578000	0.87016	0.650000	0.86243	CAG		0.532	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		C	55439720	G	C	55439720	3	2	395	1	0	0	0	0	1	0	0	0	681	1357	47	3	1348	3	ANKRD55	5	55439720	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	14290272	55439720	125475540	50	21574											
NR2F1	7025	genome.wustl.edu	37	5	92929390	92929390	+	Silent	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:92929390C>T	ENST00000327111.3	+	3	2801	c.1114C>T	c.(1114-1116)Ctg>Ttg	p.L372L	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	372					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CAAACTGCTGCTGCGACTGCC	0.607																																																0			5											94	94	94					5																	92929390		2203	4300	6503	92955146	SO:0001819	synonymous_variant	7025			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1114C>T	5.37:g.92929390C>T			92955146		Silent	SNP	ENST00000327111.3	37	CCDS4068.1																																																																																				0.607	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		T	92929390	C	T	92929390	2	4	395	1	0	0	0	0	0	0	0	1	10627	796	28	2		2	NR2F1	5	92929390	Silent	SNP	C	TCGA-36-2547-01A-01D-1526-09	37489670	92929390	87985870	51	21575											
RHOBTB3	22836	genome.wustl.edu	37	5	95067664	95067664	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:95067664T>C	ENST00000379982.3	+	2	612	c.104T>C	c.(103-105)gTc>gCc	p.V35A	RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.V35A	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	35	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AGCCCTCTGGTCTCCGGGGAC	0.632																																																0			5											50	48	49					5																	95067664		2203	4300	6503	95093420	SO:0001583	missense	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.104T>C	5.37:g.95067664T>C	ENSP00000369318:p.Val35Ala		95093420	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.539167	0.65085	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	T;T;T	0.69926	1.04;0.92;-0.44	4.86	3.67	0.42095	.	0.169666	0.37623	N	0.002011	T	0.58424	0.2121	N	0.19112	0.55	0.80722	D	1	B;D	0.64830	0.018;0.994	B;P	0.51833	0.011;0.681	T	0.60622	-0.7227	10	0.72032	D	0.01	-0.4263	8.9223	0.35619	0.1664:0.0:0.0:0.8335	.	35;35	O94955;D6RG10	RHBT3_HUMAN;.	A	41;35;35	ENSP00000423688:V41A;ENSP00000426479:V35A;ENSP00000369318:V35A	ENSP00000369318:V35A	V	+	2	0	RHOBTB3	95093420	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.597000	0.61062	0.773000	0.33404	0.455000	0.32223	GTC		0.632	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		C	95067664	T	C	95067664	3	2	395	1	0	0	0	0	1	0	0	0	13338	1667	58	4	110	4	RHOBTB3	5	95067664	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	2138274	95067664	85847596	52	21576											
MATR3	9782	genome.wustl.edu	37	5	138643751	138643751	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:138643751G>A	ENST00000394805.3	+	2	982	c.647G>A	c.(646-648)aGa>aAa	p.R216K	MATR3_ENST00000361059.2_Missense_Mutation_p.R216K|MATR3_ENST00000502929.1_Missense_Mutation_p.R216K|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.R216K|MATR3_ENST00000510056.1_Missense_Mutation_p.R216K|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.R216K|MATR3_ENST00000503811.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	216					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TATTATGACAGAATGGATTAT	0.383																																																0			5											113	107	109					5																	138643751		2203	4300	6503	138671650	SO:0001583	missense	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.647G>A	5.37:g.138643751G>A	ENSP00000378284:p.Arg216Lys		138671650	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425642	0.25639	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056	T;T;T;T;T;T;T	0.78003	-0.74;-0.74;-0.77;-0.77;-0.74;-1.14;-0.74	5.53	5.53	0.82687	.	0.138543	0.64402	D	0.000004	T	0.69797	0.3151	N	0.14661	0.345	0.43959	D	0.99663	B;B;B	0.31435	0.227;0.323;0.227	B;B;B	0.41332	0.205;0.354;0.159	T	0.63659	-0.6587	10	0.11485	T	0.65	-12.7568	19.8241	0.96610	0.0:0.0:1.0:0.0	.	216;216;216	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	K	216	ENSP00000423533:R216K;ENSP00000354346:R216K;ENSP00000422319:R216K;ENSP00000378279:R216K;ENSP00000378284:R216K;ENSP00000423290:R216K;ENSP00000426743:R216K	ENSP00000354346:R216K	R	+	2	0	MATR3	138671650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.377000	0.90141	2.758000	0.94735	0.655000	0.94253	AGA		0.383	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		A	138643751	G	A	138643751	3	1	395	1	0	0	0	0	1	0	0	0	9337	942	33	2	649	2	MATR3	5	138643751	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	43576087	138643751	42271509	53	21577											
PCDHAC2	56134	genome.wustl.edu	37	5	140346360	140346360	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:140346360G>T	ENST00000289269.5	+	1	541	c.9G>T	c.(7-9)caG>caT	p.Q3H	PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	3					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGGAGCAGGCGGGCACCA	0.746																																					Melanoma(190;638 2083 3390 11909 52360)											0			5											4	4	4					5																	140346360		1711	3496	5207	140326544	SO:0001583	missense	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.9G>T	5.37:g.140346360G>T	ENSP00000289269:p.Gln3His		140326544	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137640	0.37728	.	.	ENSG00000243232	ENST00000289269	T	0.47528	0.84	4.62	3.67	0.42095	.	0.532887	0.14137	N	0.338997	T	0.26268	0.0641	N	0.08118	0	0.23314	N	0.99793	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.07328	-1.0778	10	0.54805	T	0.06	.	7.7974	0.29156	0.0909:0.0:0.7354:0.1736	.	3;3	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	3	ENSP00000289269:Q3H	ENSP00000289269:Q3H	Q	+	3	2	PCDHAC2	140326544	0.042000	0.20092	1.000000	0.80357	0.964000	0.63967	0.152000	0.16302	2.400000	0.81607	0.561000	0.74099	CAG		0.746	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		T	140346360	G	T	140346360	3	4	395	1	0	0	0	0	1	0	0	0	11533	991	35	3	11	3	PCDHAC2	5	140346360	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	1702609	140346360	40568900	54	21578											
PCDHB14	56122	genome.wustl.edu	37	5	140604913	140604913	+	Silent	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr5:140604913C>T	ENST00000239449.4	+	1	1836	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	PCDHB14_ENST00000515856.2_Silent_p.P459P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGGAGCCCGGGCTGTTCG	0.711																																					Ovarian(141;50 1831 27899 33809 37648)											0			5											5	6	6					5																	140604913		1402	2956	4358	140585097	SO:0001819	synonymous_variant	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1836C>T	5.37:g.140604913C>T			140585097	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																				0.711	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		T	140604913	C	T	140604913	2	4	395	1	0	0	0	0	0	0	0	1	11539	639	23	1		1	PCDHB14	5	140604913	Silent	SNP	C	TCGA-36-2547-01A-01D-1526-09	258553	140604913	40310347	55	21579											
RREB1	6239	genome.wustl.edu	37	6	7231272	7231272	+	Silent	SNP	T	T	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:7231272T>G	ENST00000349384.6	+	10	3254	c.2940T>G	c.(2938-2940)ccT>ccG	p.P980P	RREB1_ENST00000379938.2_Silent_p.P980P|RREB1_ENST00000334984.6_Silent_p.P980P|RREB1_ENST00000379933.3_Silent_p.P980P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	980	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTTCTCTTCCTGTAACTTTGG	0.677																																																0			6											18	21	20					6																	7231272		2203	4300	6503	7176271	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2940T>G	6.37:g.7231272T>G			7176271	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																				0.677	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			G	7231272	T	G	7231272	2	3	395	1	0	0	0	0	0	0	0	1	13682	1567	55	5		5	RREB1	6	7231272	Silent	SNP	T	TCGA-36-2547-01A-01D-1526-09		7231272	163883795	56	21580											
MBOAT1	154141	genome.wustl.edu	37	6	20151460	20151460	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:20151460C>A	ENST00000324607.7	-	3	443	c.279G>T	c.(277-279)atG>atT	p.M93I	MBOAT1_ENST00000541730.1_5'UTR|MBOAT1_ENST00000536798.1_Missense_Mutation_p.M93I	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	93					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TTGCATAGCACATTAACACCA	0.363																																																0			6											154	134	141					6																	20151460		2203	4300	6503	20259439	SO:0001583	missense	154141			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.279G>T	6.37:g.20151460C>A	ENSP00000324944:p.Met93Ile		20259439	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	C	0.504	-0.869776	0.02570	.	.	ENSG00000172197	ENST00000324607;ENST00000536798	T;T	0.18810	2.97;2.19	5.69	3.59	0.41128	.	0.396053	0.33144	N	0.005228	T	0.02083	0.0065	N	0.04508	-0.205	0.27592	N	0.949243	B	0.02656	0.0	B	0.01281	0.0	T	0.45160	-0.9280	10	0.02654	T	1	-22.7531	9.965	0.41719	0.0:0.768:0.0:0.232	.	93	Q6ZNC8	MBOA1_HUMAN	I	93	ENSP00000324944:M93I;ENSP00000439814:M93I	ENSP00000324944:M93I	M	-	3	0	MBOAT1	20259439	0.154000	0.22792	0.998000	0.56505	0.705000	0.40729	0.132000	0.15891	1.392000	0.46585	0.650000	0.86243	ATG		0.363	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			A	20151460	C	A	20151460	3	1	395	1	0	0	0	0	1	0	0	0	9356	478	17	3	1252	3	MBOAT1	6	20151460	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	12920188	20151460	150963607	57	21581											
SCAND3	114821	genome.wustl.edu	37	6	28540482	28540482	+	Silent	SNP	A	A	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:28540482A>G	ENST00000452236.2	-	4	3801	c.3184T>C	c.(3184-3186)Tta>Cta	p.L1062L		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ccccgtgataaccaccgtatc	0.343																																																0			6											83	84	84					6																	28540482		2203	4300	6503	28648461	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.3184T>C	6.37:g.28540482A>G			28648461		Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.343	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			G	28540482	A	G	28540482	2	3	395	1	0	0	0	0	0	0	0	1	13879	40	2	4		4	SCAND3	6	28540482	Silent	SNP	A	TCGA-36-2547-01A-01D-1526-09	8389022	28540482	142574585	58	21582											
MCCD1	401250	genome.wustl.edu	37	6	31496835	31496835	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:31496835G>A	ENST00000376191.2	+	1	342	c.44G>A	c.(43-45)cGc>cAc	p.R15H	DDX39B_ENST00000462421.1_5'Flank	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	15						mitochondrion (GO:0005739)				skin(1)	1						CATTTCCTTCGCCTCCTTCTG	0.622																																																0			6											173	128	144					6																	31496835		1511	2709	4220	31604814	SO:0001583	missense	401250				CCDS34396.1	6p21.3	2003-10-17				ENSG00000204511			20668	protein-coding gene	gene with protein product		609624				14527716	Standard	NM_001011700		Approved		uc003ntp.1	P59942		ENST00000376191.2:c.44G>A	6.37:g.31496835G>A	ENSP00000365362:p.Arg15His		31604814	A2AB29|A2RUP7|B0UZB2|Q7RTY2	Missense_Mutation	SNP	ENST00000376191.2	37	CCDS34396.1	.	.	.	.	.	.	.	.	.	.	N	0.027	-1.363954	0.01235	.	.	ENSG00000204511	ENST00000376191	T	0.25579	1.79	3.25	-1.04	0.10068	.	1.197690	0.06338	N	0.707425	T	0.04182	0.0116	N	0.24115	0.695	0.09310	N	0.999996	B	0.06786	0.001	B	0.01281	0.0	T	0.39057	-0.9632	10	0.33940	T	0.23	.	0.8462	0.01161	0.2296:0.1814:0.4032:0.1857	.	15	P59942	MCCD1_HUMAN	H	15	ENSP00000365362:R15H	ENSP00000365362:R15H	R	+	2	0	MCCD1	31604814	0.001000	0.12720	0.079000	0.20413	0.036000	0.12997	0.081000	0.14823	-0.382000	0.07870	-0.300000	0.09419	CGC		0.622	MCCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259099.1			A	31496835	G	A	31496835	3	1	395	1	0	0	0	0	1	0	0	0	9376	1087	38	1	46	1	MCCD1	6	31496835	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	2956353	31496835	139618232	59	21583											
RHAG	6005	genome.wustl.edu	37	6	49583450	49583450	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:49583450G>T	ENST00000371175.4	-	4	553	c.527C>A	c.(526-528)gCc>gAc	p.A176D	RHAG_ENST00000229810.7_Missense_Mutation_p.A176D	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	176					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GGCCCCAAAGGCATGGATCGT	0.468																																					Ovarian(176;476 2003 7720 43408 44749)											0			6											117	110	113					6																	49583450		2203	4300	6503	49691409	SO:0001583	missense	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.527C>A	6.37:g.49583450G>T	ENSP00000360217:p.Ala176Asp		49691409	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778013	0.90195	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.25250	1.81;1.81	5.76	5.76	0.90799	Ammonium transporter AmtB-like (3);	0.091506	0.85682	D	0.000000	T	0.52322	0.1727	M	0.91196	3.185	0.80722	D	1	D;P;P	0.52996	0.957;0.87;0.87	P;P;P	0.60345	0.873;0.824;0.824	T	0.62440	-0.6854	10	0.87932	D	0	-8.7584	18.9695	0.92709	0.0:0.0:1.0:0.0	.	176;176;176	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	D	176	ENSP00000360217:A176D;ENSP00000229810:A176D	ENSP00000229810:A176D	A	-	2	0	RHAG	49691409	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.410000	0.97335	2.726000	0.93360	0.655000	0.94253	GCC		0.468	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			T	49583450	G	T	49583450	3	4	395	1	0	0	0	0	1	0	0	0	13318	1203	42	3	730	3	RHAG	6	49583450	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	18086615	49583450	121531617	60	21584											
HCRTR2	3062	genome.wustl.edu	37	6	55039484	55039484	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:55039484C>G	ENST00000370862.3	+	1	435	c.99C>G	c.(97-99)gaC>gaG	p.D33E		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	33					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACCCCACCGACTATGACGACG	0.537																																																0			6											148	132	137					6																	55039484		2203	4300	6503	55147443	SO:0001583	missense	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.99C>G	6.37:g.55039484C>G	ENSP00000359899:p.Asp33Glu		55147443	Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.024040	0.35701	.	.	ENSG00000137252	ENST00000370862	T	0.37915	1.17	4.99	4.99	0.66335	.	0.283281	0.34314	N	0.004074	T	0.11707	0.0285	L	0.38838	1.175	0.34545	D	0.710741	B	0.02656	0.0	B	0.04013	0.001	T	0.07520	-1.0768	10	0.11485	T	0.65	.	10.2166	0.43173	0.0:0.8469:0.0:0.1531	.	33	O43614	OX2R_HUMAN	E	33	ENSP00000359899:D33E	ENSP00000359899:D33E	D	+	3	2	HCRTR2	55147443	0.104000	0.21937	1.000000	0.80357	0.991000	0.79684	0.575000	0.23729	2.599000	0.87857	0.563000	0.77884	GAC		0.537	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			G	55039484	C	G	55039484	3	3	395	1	0	0	0	0	1	0	0	0	7002	564	20	3	101	3	HCRTR2	6	55039484	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	5456034	55039484	116075583	61	21585											
GABRR2	2570	genome.wustl.edu	37	6	89967689	89967689	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:89967689C>G	ENST00000402938.3	-	9	1231	c.1098G>C	c.(1096-1098)atG>atC	p.M366I	GABRR2_ENST00000602399.1_Missense_Mutation_p.M391I	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	366					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)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCATTCCACACATGCACGGGA	0.532																																																0			6											58	54	55					6																	89967689		2203	4300	6503	90024408	SO:0001583	missense	2570				CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1098G>C	6.37:g.89967689C>G	ENSP00000386029:p.Met366Ile		90024408	A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	C	3.345	-0.133751	0.06711	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.016230	0.07816	N	0.959048	T	0.13415	0.0325	N	0.17800	0.525	0.28503	N	0.913905	B	0.02656	0.0	B	0.09377	0.004	T	0.12604	-1.0541	8	.	.	.	.	9.7825	0.40656	0.0:0.8114:0.0:0.1886	.	391	P28476	GBRR2_HUMAN	I	391	.	.	M	-	3	0	GABRR2	90024408	0.000000	0.05858	0.985000	0.45067	0.099000	0.18886	-0.843000	0.04350	2.766000	0.95052	0.650000	0.86243	ATG		0.532	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			G	89967689	C	G	89967689	3	3	395	1	0	0	0	0	1	0	0	0	6177	478	17	3	303	3	GABRR2	6	89967689	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	34928205	89967689	81147378	62	21586											
FIG4	9896	genome.wustl.edu	37	6	110059646	110059646	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:110059646T>G	ENST00000230124.3	+	7	889	c.765T>G	c.(763-765)tgT>tgG	p.C255W	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	255	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ATGGGTTCTGTGGGCAGTCAA	0.313																																																0			6											137	137	137					6																	110059646		2203	4298	6501	110166339	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.765T>G	6.37:g.110059646T>G	ENSP00000230124:p.Cys255Trp		110166339	Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650772	0.67472	.	.	ENSG00000112367	ENST00000230124;ENST00000454215	T;T	0.58210	0.35;0.35	5.89	2.29	0.28610	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.53809	-0.8386	10	0.87932	D	0	-12.5192	8.2859	0.31928	0.0:0.2403:0.0:0.7597	.	255	Q92562	FIG4_HUMAN	W	255;234	ENSP00000230124:C255W;ENSP00000412156:C234W	ENSP00000230124:C255W	C	+	3	2	FIG4	110166339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.248000	0.51430	0.487000	0.27698	0.533000	0.62120	TGT		0.313	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		G	110059646	T	G	110059646	3	3	395	1	0	0	0	0	1	0	0	0	5888	1702	59	5	791	5	FIG4	6	110059646	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	20091957	110059646	61055421	63	21587											
FABP7	2173	genome.wustl.edu	37	6	123102305	123102305	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:123102305T>A	ENST00000368444.3	+	3	634	c.314T>A	c.(313-315)tTt>tAt	p.F105Y	FABP7_ENST00000356535.4_Missense_Mutation_p.F105Y	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	105					cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	GAAACAAATTTTGTAAGAGAA	0.388																																																0			6											135	134	134					6																	123102305		2203	4300	6503	123144004	SO:0001583	missense	2173			D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"Fatty acid binding protein family"	3562	protein-coding gene	gene with protein product	"brain lipid binding protein"	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.314T>A	6.37:g.123102305T>A	ENSP00000357429:p.Phe105Tyr		123144004	B2R4L1|O14951|Q6IAU7|Q9H047	Missense_Mutation	SNP	ENST00000368444.3	37	CCDS5127.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909867	0.72983	.	.	ENSG00000164434	ENST00000368444;ENST00000356535	T;T	0.41400	1.0;3.15	5.18	4.0	0.46444	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.194498	0.56097	D	0.000028	T	0.26810	0.0656	N	0.20807	0.61	0.47441	D	0.999428	B;P	0.41643	0.061;0.758	B;P	0.51170	0.167;0.661	T	0.15009	-1.0452	10	0.62326	D	0.03	.	12.1389	0.53986	0.0:0.0:0.1487:0.8513	.	105;105	O15540;Q9H047	FABP7_HUMAN;.	Y	105	ENSP00000357429:F105Y;ENSP00000348931:F105Y	ENSP00000348931:F105Y	F	+	2	0	FABP7	123144004	1.000000	0.71417	0.915000	0.36163	0.908000	0.53690	5.119000	0.64679	0.894000	0.36317	0.254000	0.18369	TTT		0.388	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042037.1	NM_001446		A	123102305	T	A	123102305	3	1	395	1	0	0	0	0	1	0	0	0	5362	1841	64	5	324	5	FABP7	6	123102305	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	13042659	123102305	48012762	64	21588											
ENPP3	5169	genome.wustl.edu	37	6	132047311	132047311	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr6:132047311A>T	ENST00000414305.1	+	21	2252	c.1924A>T	c.(1924-1926)Atg>Ttg	p.M642L	ENPP3_ENST00000358229.5_Missense_Mutation_p.M642L|ENPP3_ENST00000357639.3_Missense_Mutation_p.M642L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	642	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)			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)		GAGGATGCCCATGTGGAGTTC	0.448																																																0			6											170	161	164					6																	132047311		2203	4300	6503	132089004	SO:0001583	missense	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.1924A>T	6.37:g.132047311A>T	ENSP00000406261:p.Met642Leu		132089004	Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	A	7.422	0.636914	0.14386	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.69175	-0.17;-0.17;-0.38	5.4	-10.8	0.00216	DNA/RNA non-specific endonuclease (1);Extracellular Endonuclease, subunit A (2);	0.805047	0.11427	N	0.565171	T	0.08133	0.0203	N	0.00395	-1.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36432	-0.9748	10	0.02654	T	1	-2.0641	15.7384	0.77866	0.1139:0.7552:0.0625:0.0685	.	642	O14638	ENPP3_HUMAN	L	642	ENSP00000406261:M642L;ENSP00000350265:M642L;ENSP00000350964:M642L	ENSP00000350265:M642L	M	+	1	0	ENPP3	132089004	0.006000	0.16342	0.611000	0.29010	0.988000	0.76386	-0.291000	0.08343	-2.034000	0.00924	0.533000	0.62120	ATG		0.448	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			T	132047311	A	T	132047311	3	4	395	1	0	0	0	0	1	0	0	0	5131	217	8	5	2002	5	ENPP3	6	132047311	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	8945006	132047311	39067756	65	21589											
GUSB	2990	genome.wustl.edu	37	7	65432891	65432891	+	Missense_Mutation	SNP	G	G	A	rs143495981		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr7:65432891G>A	ENST00000304895.4	-	10	1610	c.1480C>T	c.(1480-1482)Ccg>Tcg	p.P494S	GUSB_ENST00000345660.6_Missense_Mutation_p.P443S|GUSB_ENST00000421103.1_Missense_Mutation_p.P348S	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	494					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCCACATACGGAGCCTAGGAC	0.547																																																0			7											48	46	47					7																	65432891		2203	4300	6503	65070326	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1480C>T	7.37:g.65432891G>A	ENSP00000302728:p.Pro494Ser		65070326	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018034	0.54576	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95069	-3.6;-3.6;-3.6	5.45	5.45	0.79879	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.90321	0.6972	L	0.31157	0.91	0.80722	D	1	B;B	0.30439	0.279;0.059	B;B	0.29176	0.099;0.068	D	0.87659	0.2533	10	0.18710	T	0.47	.	18.2566	0.90021	0.0:0.0:1.0:0.0	.	348;494	E9PCV0;P08236	.;BGLR_HUMAN	S	494;348;443	ENSP00000302728:P494S;ENSP00000391390:P348S;ENSP00000340734:P443S	ENSP00000302728:P494S	P	-	1	0	GUSB	65070326	1.000000	0.71417	0.132000	0.22025	0.306000	0.27790	7.891000	0.87319	2.550000	0.86006	0.542000	0.68232	CCG		0.547	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		A	65432891	G	A	65432891	3	1	395	1	0	0	0	0	1	0	0	0	6902	1174	41	2	487	2	GUSB	7	65432891	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09		65432891	93705772	66	21590											
ASL	435	genome.wustl.edu	37	7	65546870	65546870	+	Silent	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr7:65546870C>T	ENST00000304874.9	+	3	195	c.93C>T	c.(91-93)gaC>gaT	p.D31D	ASL_ENST00000395332.3_Silent_p.D31D|ASL_ENST00000395331.3_Silent_p.D31D|ASL_ENST00000380839.4_Silent_p.D31D	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	31			D -> N (in ARGINSA). {ECO:0000269|PubMed:17326097}.		arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TTGCCTACGACCGGCACCTTT	0.597																																																0			7											68	55	59					7																	65546870		2203	4300	6503	65184305	SO:0001819	synonymous_variant	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.93C>T	7.37:g.65546870C>T			65184305	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	ENST00000304874.9	37	CCDS5531.1																																																																																				0.597	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		T	65546870	C	T	65546870	2	4	395	1	0	0	0	0	0	0	0	1	1044	506	18	2		2	ASL	7	65546870	Silent	SNP	C	TCGA-36-2547-01A-01D-1526-09	113979	65546870	93591793	67	21591											
ABCB4	5244	genome.wustl.edu	37	7	87076386	87076386	+	Silent	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr7:87076386G>C	ENST00000265723.4	-	9	1080	c.969C>G	c.(967-969)gtC>gtG	p.V323V	ABCB4_ENST00000545634.1_Silent_p.V323V|ABCB4_ENST00000359206.3_Silent_p.V323V|ABCB4_ENST00000358400.3_Silent_p.V323V|ABCB4_ENST00000453593.1_Silent_p.V323V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	323	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTTTTGATATGACTAGAGTGG	0.333																																																0			7											119	110	113					7																	87076386		2203	4300	6503	86914322	SO:0001819	synonymous_variant	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.969C>G	7.37:g.87076386G>C			86914322	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	CCDS5606.1																																																																																				0.333	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		C	87076386	G	C	87076386	2	2	395	1	0	0	0	0	0	0	0	1	43	1277	45	3		3	ABCB4	7	87076386	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	21529516	87076386	72062277	68	21592											
LMTK2	22853	genome.wustl.edu	37	7	97766717	97766717	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr7:97766717G>A	ENST00000297293.5	+	2	487	c.194G>A	c.(193-195)tGt>tAt	p.C65Y	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	65					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATTGCAAACTGTGTATCCTGC	0.398																																																0			7											90	88	89					7																	97766717		2203	4300	6503	97604653	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.194G>A	7.37:g.97766717G>A	ENSP00000297293:p.Cys65Tyr		97604653	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418252	0.83449	.	.	ENSG00000164715	ENST00000297293	T	0.81078	-1.45	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89750	0.3939	10	0.87932	D	0	.	17.1665	0.86818	0.0:0.0:1.0:0.0	.	65	Q8IWU2	LMTK2_HUMAN	Y	65	ENSP00000297293:C65Y	ENSP00000297293:C65Y	C	+	2	0	LMTK2	97604653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.795000	0.91872	2.275000	0.75901	0.591000	0.81541	TGT		0.398	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		A	97766717	G	A	97766717	3	1	395	1	0	0	0	0	1	0	0	0	8859	1377	48	2	200	2	LMTK2	7	97766717	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	10690331	97766717	61371946	69	21593											
ANK1	286	genome.wustl.edu	37	8	41577264	41577264	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr8:41577264G>T	ENST00000347528.4	-	10	1105	c.1022C>A	c.(1021-1023)cCa>cAa	p.P341Q	ANK1_ENST00000265709.8_Missense_Mutation_p.P374Q|ANK1_ENST00000379758.2_Missense_Mutation_p.P341Q|ANK1_ENST00000289734.7_Missense_Mutation_p.P341Q|ANK1_ENST00000396945.1_Missense_Mutation_p.P341Q|ANK1_ENST00000352337.4_Missense_Mutation_p.P341Q|ANK1_ENST00000396942.1_Missense_Mutation_p.P341Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	341	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACGTGGAGTGGGGTCAGGTG	0.602																																																0			8											235	204	215					8																	41577264		2203	4300	6503	41696421	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1022C>A	8.37:g.41577264G>T	ENSP00000339620:p.Pro341Gln		41696421	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583475	0.65992	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.053388	0.85682	D	0.000000	D	0.87787	0.6265	H	0.94771	3.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.984;1.0	D	0.90379	0.4386	10	0.87932	D	0	.	19.9766	0.97312	0.0:0.0:1.0:0.0	.	374;341;341;341;341	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	Q	341;341;341;341;341;341;374;341	ENSP00000339620:P341Q;ENSP00000289734:P341Q;ENSP00000369082:P341Q;ENSP00000380149:P341Q;ENSP00000380147:P341Q;ENSP00000309131:P341Q;ENSP00000265709:P374Q	ENSP00000265709:P374Q	P	-	2	0	ANK1	41696421	1.000000	0.71417	0.425000	0.26659	0.029000	0.11900	9.869000	0.99810	2.739000	0.93911	0.555000	0.69702	CCA		0.602	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41577264	G	T	41577264	3	4	395	1	0	0	0	0	1	0	0	0	620	1348	47	3	5109	3	ANK1	8	41577264	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09		41577264	104786758	70	21594											
TG	7038	genome.wustl.edu	37	8	133899410	133899410	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr8:133899410T>G	ENST00000220616.4	+	9	1833	c.1793T>G	c.(1792-1794)gTg>gGg	p.V598G	TG_ENST00000377869.1_Missense_Mutation_p.V598G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	598					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTAGGTGATGTGATGGAAACG	0.478																																																0			8											139	128	132					8																	133899410		2203	4300	6503	133968592	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1793T>G	8.37:g.133899410T>G	ENSP00000220616:p.Val598Gly		133968592	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	9.895	1.205255	0.22205	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66995	-0.24;-0.23	5.03	2.63	0.31362	.	0.103647	0.42420	D	0.000710	T	0.78892	0.4355	M	0.86420	2.815	0.18873	N	0.999983	D	0.71674	0.998	D	0.69824	0.966	T	0.67461	-0.5665	10	0.49607	T	0.09	.	4.9263	0.13894	0.0:0.1593:0.158:0.6826	.	598	P01266	THYG_HUMAN	G	598	ENSP00000367100:V598G;ENSP00000220616:V598G	ENSP00000220616:V598G	V	+	2	0	TG	133968592	0.998000	0.40836	0.154000	0.22540	0.104000	0.19210	1.772000	0.38552	0.383000	0.24910	0.533000	0.62120	GTG		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		G	133899410	T	G	133899410	3	3	395	1	0	0	0	0	1	0	0	0	15813	1696	59	5	1827	5	TG	8	133899410	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	92322146	133899410	12464612	71	21595											
KIAA1539	80256	genome.wustl.edu	37	9	35107716	35107716	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr9:35107716G>A	ENST00000378561.1	-	2	3611	c.556C>T	c.(556-558)Ctt>Ttt	p.L186F	FAM214B_ENST00000322813.5_Missense_Mutation_p.L186F|FAM214B_ENST00000378554.2_Missense_Mutation_p.L186F|FAM214B_ENST00000378557.1_Missense_Mutation_p.L186F|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000605244.1_Missense_Mutation_p.L186F|FAM214B_ENST00000488109.2_Missense_Mutation_p.L186F|FAM214B_ENST00000603301.1_Missense_Mutation_p.L186F|FAM214B_ENST00000605392.1_5'Flank			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	186						nucleus (GO:0005634)											TCAGTGTCAAGTGTGTGCAGC	0.632																																																0			9											42	51	48					9																	35107716		2202	4300	6502	35097716	SO:0001583	missense	80256			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.556C>T	9.37:g.35107716G>A	ENSP00000367823:p.Leu186Phe		35097716	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	g	11.05	1.524026	0.27299	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.87	1.96	0.26148	.	0.201916	0.33854	N	0.004482	T	0.46151	0.1378	L	0.55481	1.735	0.36015	D	0.838324	B	0.02656	0.0	B	0.04013	0.001	T	0.40175	-0.9577	8	.	.	.	-25.5246	7.1344	0.25521	0.1524:0.0:0.7108:0.1368	.	186	Q7L5A3	K1539_HUMAN	F	186	.	.	L	-	1	0	KIAA1539	35097716	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.161000	0.31773	0.236000	0.21180	-1.093000	0.02169	CTT		0.632	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		A	35107716	G	A	35107716	3	1	395	1	0	0	0	0	1	0	0	0	8242	1029	36	2	1088	2	KIAA1539	9	35107716	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09		35107716	106105715	72	21596											
RECK	8434	genome.wustl.edu	37	9	36118898	36118898	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr9:36118898G>T	ENST00000377966.3	+	18	2964	c.2398G>T	c.(2398-2400)Gcc>Tcc	p.A800S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	800					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAGCTCCGTCGCCGAGTGTGC	0.607																																																0			9											84	76	79					9																	36118898		2203	4300	6503	36108898	SO:0001583	missense	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2398G>T	9.37:g.36118898G>T	ENSP00000367202:p.Ala800Ser		36108898	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	0.661	-0.805813	0.02819	.	.	ENSG00000122707	ENST00000377966	T	0.40476	1.03	5.43	-10.3	0.00346	.	0.811905	0.11622	N	0.545651	T	0.13329	0.0323	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.40384	-0.9566	10	0.10377	T	0.69	0.2	15.1418	0.72615	0.7589:0.0913:0.1498:0.0	.	800;800	A8K9D8;O95980	.;RECK_HUMAN	S	800	ENSP00000367202:A800S	ENSP00000367202:A800S	A	+	1	0	RECK	36108898	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.436000	0.06922	-1.901000	0.01096	-1.655000	0.00754	GCC		0.607	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			T	36118898	G	T	36118898	3	4	395	1	0	0	0	0	1	0	0	0	13203	1087	38	3	2468	3	RECK	9	36118898	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	1011182	36118898	105094533	73	21597											
COL15A1	1306	genome.wustl.edu	37	9	101798461	101798461	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr9:101798461G>A	ENST00000375001.3	+	20	2722	c.2299G>A	c.(2299-2301)Gga>Aga	p.G767R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	767	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGGTCTCAAAGGAGAGAAAGG	0.493																																																0			9											68	88	81					9																	101798461		2203	4300	6503	100838282	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2299G>A	9.37:g.101798461G>A	ENSP00000364140:p.Gly767Arg		100838282	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956874	0.53293	.	.	ENSG00000204291	ENST00000375001	D	0.91577	-2.87	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	M	0.93507	3.425	0.45541	D	0.998499	D	0.89917	1.0	D	0.91635	0.999	D	0.97115	0.9807	10	0.87932	D	0	-13.2268	14.6855	0.69047	0.0:0.0:1.0:0.0	.	767	P39059	COFA1_HUMAN	R	767	ENSP00000364140:G767R	ENSP00000364140:G767R	G	+	1	0	COL15A1	100838282	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.850000	0.62889	2.589000	0.87451	0.655000	0.94253	GGA		0.493	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101798461	G	A	101798461	3	1	395	1	0	0	0	0	1	0	0	0	3672	1001	35	2	2377	2	COL15A1	9	101798461	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	65679563	101798461	39414970	74	21598											
TNC	3371	genome.wustl.edu	37	9	117808917	117808917	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr9:117808917G>T	ENST00000350763.4	-	17	5308	c.4897C>A	c.(4897-4899)Cca>Aca	p.P1633T	TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.P1451T|TNC_ENST00000340094.3_Missense_Mutation_p.P1269T|TNC_ENST00000535648.1_Missense_Mutation_p.P1178T|TNC_ENST00000346706.3_Missense_Mutation_p.P1087T|TNC_ENST00000542877.1_Missense_Mutation_p.P1270T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1633	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAACCGTCTGGGGTGGCATCT	0.478																																																0			9											49	56	53					9																	117808917		2203	4300	6503	116848738	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4897C>A	9.37:g.117808917G>T	ENSP00000265131:p.Pro1633Thr		116848738	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.43|10.43	1.347018|1.347018	0.24426|0.24426	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000350763;ENST00000341037;ENST00000542877	.|T;T;T;T;T;T	.|0.56941	.|0.43;0.43;0.43;0.43;0.43;0.43	5.94|5.94	5.04|5.04	0.67666|0.67666	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.207906|0.207906	0.41097|0.41097	D|D	0.000941|0.000941	T|T	0.51109|0.51109	0.1655|0.1655	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|B	.|0.33583	.|0.418	.|B	.|0.36092	.|0.217	T|T	0.50136|0.50136	-0.8863|-0.8863	6|10	.|0.34782	.|T	.|0.22	.|.	10.5549|10.5549	0.45112|0.45112	0.0688:0.1342:0.7971:0.0|0.0688:0.1342:0.7971:0.0	.|.	.|1633	.|P24821	.|TENA_HUMAN	H|T	195|1269;1178;1087;1633;1451;1270	.|ENSP00000344400:P1269T;ENSP00000438152:P1178T;ENSP00000344555:P1087T;ENSP00000265131:P1633T;ENSP00000339553:P1451T;ENSP00000442242:P1270T	.|ENSP00000344400:P1269T	P|P	-|-	2|1	0|0	TNC|TNC	116848738|116848738	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.893000|0.893000	0.52053|0.52053	3.659000|3.659000	0.54489|0.54489	1.495000|1.495000	0.48549|0.48549	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117808917	G	T	117808917	3	4	395	1	0	0	0	0	1	0	0	0	16270	1232	43	3	1756	3	TNC	9	117808917	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	16010456	117808917	23404514	75	21599											
AK1	203	genome.wustl.edu	37	9	130630642	130630642	+	Silent	SNP	T	T	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr9:130630642T>C	ENST00000373176.1	-	6	626	c.474A>G	c.(472-474)gaA>gaG	p.E158E	MIR4672_ENST00000583126.1_RNA|AK1_ENST00000223836.10_Silent_p.E174E|AK1_ENST00000373156.1_Silent_p.E158E|RP11-203J24.9_ENST00000476274.2_RNA	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						CGATGACAGGTTCTGTGGCCT	0.602																																																0			9											92	67	75					9																	130630642		2203	4300	6503	129670463	SO:0001819	synonymous_variant	203			J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"Adenylate kinases"	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.474A>G	9.37:g.130630642T>C			129670463		Silent	SNP	ENST00000373176.1	37	CCDS6881.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749325	0.30955	.	.	ENSG00000106992	ENST00000413016	.	.	.	5.35	-4.83	0.03161	.	.	.	.	.	T	0.69187	0.3083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68565	-0.5375	4	.	.	.	-30.394	19.8836	0.96906	0.0:0.8915:0.0:0.1085	.	.	.	.	S	99	.	.	N	-	2	0	AK1	129670463	0.853000	0.29707	0.081000	0.20488	0.867000	0.49689	-0.017000	0.12590	-1.432000	0.01979	-0.379000	0.06801	AAC		0.602	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1			C	130630642	T	C	130630642	2	2	395	1	0	0	0	0	0	0	0	1	439	1722	60	4		4	AK1	9	130630642	Silent	SNP	T	TCGA-36-2547-01A-01D-1526-09	12821725	130630642	10582789	76	21600											
NOLC1	9221	genome.wustl.edu	37	10	103912207	103912207	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr10:103912207C>A	ENST00000605788.1	+	1	275	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	NOLC1_ENST00000405356.1_Missense_Mutation_p.L14M|NOLC1_ENST00000488254.2_Missense_Mutation_p.L14M|NOLC1_ENST00000603742.1_5'UTR	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	14	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TCCCAGCGACCTGTATCCCCT	0.622																																																0			10											84	81	82					10																	103912207		2203	4300	6503	103902197	SO:0001583	missense	9221			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.40C>A	10.37:g.103912207C>A	ENSP00000474710:p.Leu14Met		103902197	Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.716912	0.48622	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.57436	0.4	5.4	3.42	0.39159	LisH dimerisation motif (2);	0.000000	0.51477	D	0.000092	T	0.69415	0.3108	M	0.78801	2.425	0.33952	D	0.644564	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.79047	-0.1963	10	0.87932	D	0	-8.2066	9.7061	0.40216	0.0:0.82:0.0:0.18	.	14;14;14	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	M	14	ENSP00000385410:L14M	ENSP00000359024:L14M	L	+	1	2	NOLC1	103902197	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	1.772000	0.38552	1.522000	0.49001	-0.258000	0.10820	CTG		0.622	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		A	103912207	C	A	103912207	3	1	395	1	0	0	0	0	1	0	0	0	10529	680	24	3	42	3	NOLC1	10	103912207	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09		103912207	31622540	77	21601											
SMC3	9126	genome.wustl.edu	37	10	112343293	112343293	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr10:112343293A>G	ENST00000361804.4	+	11	1082	c.956A>G	c.(955-957)aAt>aGt	p.N319S		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	319					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CTAGCAGGCAATAGTGAACAA	0.398																																																0			10											75	73	74					10																	112343293		2203	4300	6503	112333283	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.956A>G	10.37:g.112343293A>G	ENSP00000354720:p.Asn319Ser		112333283	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948403	0.34377	.	.	ENSG00000108055	ENST00000361804	T	0.75589	-0.95	5.68	5.68	0.88126	RecF/RecN/SMC (1);	0.089351	0.85682	D	0.000000	T	0.52208	0.1720	N	0.04132	-0.27	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.52779	-0.8530	10	0.09084	T	0.74	.	16.2322	0.82352	1.0:0.0:0.0:0.0	.	319	Q9UQE7	SMC3_HUMAN	S	319	ENSP00000354720:N319S	ENSP00000354720:N319S	N	+	2	0	SMC3	112333283	1.000000	0.71417	0.998000	0.56505	0.337000	0.28794	8.777000	0.91781	2.288000	0.76882	0.528000	0.53228	AAT		0.398	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		G	112343293	A	G	112343293	3	3	395	1	0	0	0	0	1	0	0	0	14787	101	4	4	998	4	SMC3	10	112343293	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	8431086	112343293	23191454	78	21602											
MUC6	4588	genome.wustl.edu	37	11	1017325	1017325	+	Missense_Mutation	SNP	A	A	C	rs55903826	byFrequency	TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:1017325A>C	ENST00000421673.2	-	31	5526	c.5476T>G	c.(5476-5478)Tat>Gat	p.Y1826D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1826	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGTTGGATAGGTAGTGGTG	0.552																																																0			11																																								1007325	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5476T>G	11.37:g.1017325A>C	ENSP00000406861:p.Tyr1826Asp		1007325	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	9.324	1.058685	0.19987	.	.	ENSG00000184956	ENST00000421673	T	0.18960	2.18	3.21	-6.41	0.01938	.	.	.	.	.	T	0.20251	0.0487	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.06075	-1.0847	9	0.34782	T	0.22	.	1.5268	0.02527	0.1433:0.2106:0.3334:0.3126	.	1826	Q6W4X9	MUC6_HUMAN	D	1826	ENSP00000406861:Y1826D	ENSP00000406861:Y1826D	Y	-	1	0	MUC6	1007325	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-4.881000	0.00174	-2.482000	0.00522	-0.736000	0.03550	TAT		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1017325	A	C	1017325	3	2	395	1	0	0	0	0	1	0	0	0	9980	420	15	5	1855	5	MUC6	11	1017325	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09		1017325	133989191	79	21603											
PAMR1	25891	genome.wustl.edu	37	11	35454364	35454364	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:35454364T>A	ENST00000378880.2	-	11	2148	c.1703A>T	c.(1702-1704)gAc>gTc	p.D568V	PAMR1_ENST00000278360.3_Missense_Mutation_p.D585V|PAMR1_ENST00000532848.1_Missense_Mutation_p.D528V|PAMR1_ENST00000378878.3_Missense_Mutation_p.D457V	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	568	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACGGGCCTTGTCTAGGAGCTT	0.557																																																0			11											67	64	65					11																	35454364		2202	4298	6500	35410940	SO:0001583	missense	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1703A>T	11.37:g.35454364T>A	ENSP00000368158:p.Asp568Val		35410940	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227539	0.79576	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.61	5.61	0.85477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93432	0.7905	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.992	D	0.94096	0.7357	10	0.87932	D	0	.	15.8204	0.78638	0.0:0.0:0.0:1.0	.	457;568;585	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	V	585;568;457;528;545	ENSP00000278360:D585V;ENSP00000368158:D568V;ENSP00000368156:D457V;ENSP00000433868:D528V;ENSP00000432591:D545V	ENSP00000278360:D585V	D	-	2	0	PAMR1	35410940	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.102000	0.71486	2.146000	0.66826	0.459000	0.35465	GAC		0.557	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		A	35454364	T	A	35454364	3	1	395	1	0	0	0	0	1	0	0	0	11413	1667	58	5	463	5	PAMR1	11	35454364	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	34437039	35454364	99552152	80	21604											
OR4A47	403253	genome.wustl.edu	37	11	48511008	48511008	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:48511008T>C	ENST00000446524.1	+	1	740	c.664T>C	c.(664-666)Tct>Cct	p.S222P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CATCTTGCACTCTTTAAAGAA	0.443																																																0			11											110	105	107					11																	48511008		2201	4298	6499	48467584	SO:0001583	missense	403253			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.664T>C	11.37:g.48511008T>C	ENSP00000412752:p.Ser222Pro		48467584		Missense_Mutation	SNP	ENST00000446524.1	37	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.64	1.998358	0.35226	.	.	ENSG00000237388	ENST00000446524	T	0.00169	8.63	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.00845	0.0028	H	0.95884	3.735	0.09310	N	1	D	0.71674	0.998	D	0.70487	0.969	T	0.14811	-1.0459	10	0.87932	D	0	.	11.9052	0.52708	0.0:0.0:0.0:1.0	.	222	Q6IF82	O4A47_HUMAN	P	222	ENSP00000412752:S222P	ENSP00000412752:S222P	S	+	1	0	OR4A47	48467584	0.000000	0.05858	0.170000	0.22879	0.246000	0.25737	-0.164000	0.09983	1.692000	0.51112	0.172000	0.16884	TCT		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		C	48511008	T	C	48511008	3	2	395	1	0	0	0	0	1	0	0	0	11042	1551	54	4	666	4	OR4A47	11	48511008	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	13056644	48511008	86495508	81	21605											
SSRP1	6749	genome.wustl.edu	37	11	57095779	57095779	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:57095779G>A	ENST00000278412.2	-	13	1869	c.1603C>T	c.(1603-1605)Cct>Tct	p.P535S	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	535					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						ACCTCCACAGGCTTCTTGCGG	0.577																																					Colon(89;1000 1340 6884 23013 41819)											0			11											148	142	144					11																	57095779		2201	4296	6497	56852355	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1603C>T	11.37:g.57095779G>A	ENSP00000278412:p.Pro535Ser		56852355	Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	6.465	0.453929	0.12283	.	.	ENSG00000149136	ENST00000278412	D	0.93426	-3.22	4.8	2.84	0.33178	.	0.634087	0.15143	N	0.278180	D	0.82756	0.5106	N	0.12182	0.205	0.33766	D	0.622456	B	0.22003	0.063	B	0.15052	0.012	T	0.75323	-0.3358	10	0.12766	T	0.61	.	6.9012	0.24283	0.0917:0.0:0.735:0.1733	.	535	Q08945	SSRP1_HUMAN	S	535	ENSP00000278412:P535S	ENSP00000278412:P535S	P	-	1	0	SSRP1	56852355	1.000000	0.71417	0.956000	0.39512	0.488000	0.33401	3.626000	0.54245	0.556000	0.29098	0.561000	0.74099	CCT		0.577	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		A	57095779	G	A	57095779	3	1	395	1	0	0	0	0	1	0	0	0	15196	1203	42	2	546	2	SSRP1	11	57095779	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	8584771	57095779	77910737	82	21606											
B3GAT3	26229	genome.wustl.edu	37	11	62388127	62388127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:62388127G>T	ENST00000265471.5	-	2	326	c.99C>A	c.(97-99)tgC>tgA	p.C33*	B3GAT3_ENST00000534026.1_Nonsense_Mutation_p.C33*|B3GAT3_ENST00000531383.1_Nonsense_Mutation_p.C33*	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	33					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGGGAGGAAGGCAGTCACATG	0.617																																																0			11											22	25	24					11																	62388127		2202	4299	6501	62144703	SO:0001587	stop_gained	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.99C>A	11.37:g.62388127G>T	ENSP00000265471:p.Cys33*		62144703	B7ZAB3|Q96I06|Q9UEP0	Nonsense_Mutation	SNP	ENST00000265471.5	37	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907571	0.92107	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	.	.	.	5.53	3.67	0.42095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	7.5335	0.27697	0.1881:0.0:0.8119:0.0	.	.	.	.	X	33;33;33;56	.	ENSP00000265471:C33X	C	-	3	2	B3GAT3	62144703	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.447000	0.44917	1.343000	0.45638	0.655000	0.94253	TGC		0.617	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		T	62388127	G	T	62388127	4	4	395	1	0	0	0	0	0	1	0	0	1255	1195	42	3	924	3	B3GAT3	11	62388127	Nonsense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	5292348	62388127	72618389	83	21607											
BRMS1	25855	genome.wustl.edu	37	11	66108277	66108277	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:66108277T>G	ENST00000359957.3	-	6	663	c.503A>C	c.(502-504)gAg>gCg	p.E168A	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.E168A	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	168					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GCGGTCCTCCTCCAGCCTCTG	0.657																																					GBM(7;55 307 2662 20856 28942)											0			11											29	26	27					11																	66108277		2200	4295	6495	65864853	SO:0001583	missense	25855			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.503A>C	11.37:g.66108277T>G	ENSP00000353042:p.Glu168Ala		65864853	Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	CCDS8135.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029411	0.75504	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.83774	2.66	0.58432	D	0.999999	B;P	0.43662	0.177;0.814	P;P	0.55713	0.632;0.782	T	0.79933	-0.1594	9	0.72032	D	0.01	-29.7741	12.3708	0.55254	0.0:0.0:0.0:1.0	.	168;168	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	A	168	.	ENSP00000353042:E168A	E	-	2	0	BRMS1	65864853	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.962000	0.56766	1.820000	0.53075	0.374000	0.22700	GAG		0.657	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		G	66108277	T	G	66108277	3	3	395	1	0	0	0	0	1	0	0	0	1516	1551	54	5	401	5	BRMS1	11	66108277	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	3720150	66108277	68898239	84	21608											
PGM2L1	283209	genome.wustl.edu	37	11	74053598	74053598	+	Nonsense_Mutation	SNP	T	T	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:74053598T>A	ENST00000298198.4	-	12	1851	c.1540A>T	c.(1540-1542)Aaa>Taa	p.K514*		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	514					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					GGATATTCTTTTGGAGAATCA	0.338																																																0			11											78	87	84					11																	74053598		2200	4293	6493	73731246	SO:0001587	stop_gained	283209			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1540A>T	11.37:g.74053598T>A	ENSP00000298198:p.Lys514*		73731246	Q96MQ7|Q9UIK3	Nonsense_Mutation	SNP	ENST00000298198.4	37	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	T	40	8.088041	0.98648	.	.	ENSG00000165434	ENST00000298198	.	.	.	5.8	5.8	0.92144	.	0.296096	0.36893	N	0.002346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9902	14.1023	0.65065	0.0:0.0:0.0:1.0	.	.	.	.	X	514	.	ENSP00000298198:K514X	K	-	1	0	PGM2L1	73731246	0.988000	0.35896	1.000000	0.80357	0.990000	0.78478	1.231000	0.32624	2.203000	0.70933	0.460000	0.39030	AAA		0.338	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		A	74053598	T	A	74053598	4	1	395	1	0	0	0	0	0	1	0	0	11799	1850	64	5	340	5	PGM2L1	11	74053598	Nonsense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	7945321	74053598	60952918	85	21609											
CAPN5	726	genome.wustl.edu	37	11	76829351	76829351	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:76829351G>A	ENST00000278559.3	+	8	1309	c.1120G>A	c.(1120-1122)Ggt>Agt	p.G374S	CAPN5_ENST00000529629.1_Missense_Mutation_p.G374S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.G414S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	374	Domain III.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACAGAACCGCGGTGGCGGCTG	0.647																																																0			11											60	56	57					11																	76829351		2200	4292	6492	76506999	SO:0001583	missense	726				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1120G>A	11.37:g.76829351G>A	ENSP00000278559:p.Gly374Ser		76506999	O00263	Missense_Mutation	SNP	ENST00000278559.3	37	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	3.618	-0.078077	0.07184	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T	0.39787	1.06;1.06;1.06	5.21	4.08	0.47627	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.376195	0.32655	N	0.005803	T	0.07638	0.0192	N	0.00067	-2.295	0.19300	N	0.999978	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.003;0.001;0.004;0.001	T	0.31475	-0.9942	10	0.08381	T	0.77	.	6.8673	0.24100	0.7913:0.0:0.0756:0.1331	.	412;414;414;374	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	S	374;414;374;414;414	ENSP00000278559:G374S;ENSP00000432332:G374S;ENSP00000409996:G414S	ENSP00000278559:G374S	G	+	1	0	CAPN5	76506999	0.611000	0.26992	0.991000	0.47740	0.826000	0.46750	0.887000	0.28254	0.816000	0.34421	-0.415000	0.06103	GGT		0.647	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		A	76829351	G	A	76829351	3	1	395	1	0	0	0	0	1	0	0	0	2629	1116	39	1	1146	1	CAPN5	11	76829351	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	2775753	76829351	58177165	86	21610											
TRPC6	7225	genome.wustl.edu	37	11	101362391	101362391	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:101362391C>G	ENST00000344327.3	-	3	1448	c.1024G>C	c.(1024-1026)Gtc>Ctc	p.V342L	TRPC6_ENST00000360497.4_Missense_Mutation_p.V342L|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.V342L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	342					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATGGCCTCGACTTCTTCAGTG	0.413																																					Colon(166;1315 1927 11094 12848 34731)											0			11											119	115	116					11																	101362391		2203	4299	6502	100867601	SO:0001583	missense	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1024G>C	11.37:g.101362391C>G	ENSP00000340913:p.Val342Leu		100867601	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	7.458	0.644148	0.14451	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.63417	-0.04;-0.04;-0.04	6.14	5.23	0.72850	.	0.051641	0.85682	D	0.000000	T	0.48732	0.1516	L	0.28776	0.89	0.58432	D	0.999999	P;B	0.36249	0.545;0.214	B;B	0.36289	0.221;0.11	T	0.47873	-0.9083	10	0.06236	T	0.91	0.0341	17.2076	0.86922	0.1272:0.8728:0.0:0.0	.	342;342	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	L	342	ENSP00000340913:V342L;ENSP00000435574:V342L;ENSP00000353687:V342L	ENSP00000340913:V342L	V	-	1	0	TRPC6	100867601	1.000000	0.71417	0.991000	0.47740	0.066000	0.16364	6.011000	0.70760	1.635000	0.50512	-0.133000	0.14855	GTC		0.413	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		G	101362391	C	G	101362391	3	3	395	1	0	0	0	0	1	0	0	0	16583	565	20	3	1815	3	TRPC6	11	101362391	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	24533040	101362391	33644125	87	21611											
SCN2B	6327	genome.wustl.edu	37	11	118047102	118047102	+	Silent	SNP	C	C	A	rs376823705		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr11:118047102C>A	ENST00000278947.5	-	1	286	c.45G>T	c.(43-45)acG>acT	p.T15T		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	15				T -> N (in Ref. 1; AAC26013). {ECO:0000305}.	cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GACTGAGCCCCGTGAGGCTGA	0.557																																																0			11											124	117	119					11																	118047102		2200	4296	6496	117552312	SO:0001819	synonymous_variant	6327			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.45G>T	11.37:g.118047102C>A			117552312	O75302|Q9UNN3	Silent	SNP	ENST00000278947.5	37	CCDS8390.1																																																																																				0.557	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		A	118047102	C	A	118047102	2	1	395	1	0	0	0	0	0	0	0	1	13920	639	23	3		3	SCN2B	11	118047102	Silent	SNP	C	TCGA-36-2547-01A-01D-1526-09	16684711	118047102	16959414	88	21612											
EFCAB4B	84766	genome.wustl.edu	37	12	3765503	3765503	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:3765503C>G	ENST00000252322.1	-	9	1300	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.E278Q|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.E278Q	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		278					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GTGAGCTGCTCCAGCTCCTGC	0.542																																																0			12											160	129	139					12																	3765503		2203	4300	6503	3635764	SO:0001583	missense	84766																														ENST00000252322.1:c.832G>C	12.37:g.3765503C>G	ENSP00000252322:p.Glu278Gln		3635764	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.219117	0.79464	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.21932	1.98;2.62;2.59	4.87	4.87	0.63330	.	0.101589	0.64402	D	0.000003	T	0.43188	0.1236	M	0.67953	2.075	0.37318	D	0.909448	D;D;D	0.89917	1.0;0.989;0.993	D;P;P	0.66716	0.946;0.836;0.796	T	0.45145	-0.9281	10	0.41790	T	0.15	-20.4294	15.8626	0.79038	0.0:1.0:0.0:0.0	.	278;278;278	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	Q	278	ENSP00000409382:E278Q;ENSP00000412496:E278Q;ENSP00000252322:E278Q	ENSP00000252322:E278Q	E	-	1	0	EFCAB4B	3635764	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.120000	0.64685	2.385000	0.81259	0.556000	0.70494	GAG		0.542	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			G	3765503	C	G	3765503	3	3	395	1	0	0	0	0	1	0	0	0	4937	864	30	3	1603	3	EFCAB4B	12	3765503	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09		3765503	130086392	89	21613											
PEX5	5830	genome.wustl.edu	37	12	7361136	7361136	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:7361136C>A	ENST00000455147.2	+	14	1845	c.1265C>A	c.(1264-1266)gCc>gAc	p.A422D	PEX5_ENST00000266563.5_Missense_Mutation_p.A385D|PEX5_ENST00000266564.3_Missense_Mutation_p.A414D|PEX5_ENST00000412720.2_Missense_Mutation_p.A443D|PEX5_ENST00000420616.2_Missense_Mutation_p.A422D|PEX5_ENST00000434354.2_Missense_Mutation_p.A437D	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	422					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CAGCGACAGGCCTGTGAAACC	0.597																																																0			12											67	60	63					12																	7361136		2203	4300	6503	7252403	SO:0001583	missense	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1265C>A	12.37:g.7361136C>A	ENSP00000400647:p.Ala422Asp		7252403	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310944	0.95629	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.31	5.31	0.75309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.110548	0.64402	D	0.000008	D	0.96225	0.8769	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.872;0.997;0.987;0.994;0.998	D	0.96816	0.9600	10	0.87932	D	0	.	18.9623	0.92681	0.0:1.0:0.0:0.0	.	443;437;422;414;385	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	D	422;385;437;422;443;392;414	ENSP00000400647:A422D;ENSP00000266563:A385D;ENSP00000407401:A437D;ENSP00000410159:A422D;ENSP00000391601:A443D;ENSP00000379877:A392D;ENSP00000266564:A414D	ENSP00000266563:A385D	A	+	2	0	PEX5	7252403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.474000	0.83562	0.591000	0.81541	GCC		0.597	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		A	7361136	C	A	7361136	3	1	395	1	0	0	0	0	1	0	0	0	11748	739	26	3	1356	3	PEX5	12	7361136	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	3595633	7361136	126490759	90	21614											
CLEC4A	50856	genome.wustl.edu	37	12	8278166	8278166	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:8278166A>G	ENST00000229332.5	+	2	339	c.92A>G	c.(91-93)gAg>gGg	p.E31G	CLEC4A_ENST00000360500.3_Intron|CLEC4A_ENST00000352620.3_Missense_Mutation_p.E31G|CLEC4A_ENST00000345999.3_Intron	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	31					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GCTTCCAAGGAGAGGACTGCC	0.408																																																0			12											139	119	126					12																	8278166		2203	4300	6503	8169433	SO:0001583	missense	50856			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.92A>G	12.37:g.8278166A>G	ENSP00000229332:p.Glu31Gly		8169433	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	A	5.683	0.310505	0.10733	.	.	ENSG00000111729	ENST00000229332;ENST00000352620;ENST00000546339	T;T;T	0.54675	5.34;5.15;0.56	3.89	-0.161	0.13371	.	.	.	.	.	T	0.41259	0.1151	L	0.43923	1.385	0.09310	N	1	P;B	0.38827	0.649;0.002	B;B	0.39258	0.295;0.006	T	0.32824	-0.9892	9	0.72032	D	0.01	.	5.01	0.14308	0.4473:0.3726:0.0:0.1801	.	31;31	Q9UMR7-2;Q9UMR7	.;CLC4A_HUMAN	G	31;31;20	ENSP00000229332:E31G;ENSP00000247243:E31G;ENSP00000443082:E20G	ENSP00000229332:E31G	E	+	2	0	CLEC4A	8169433	0.004000	0.15560	0.000000	0.03702	0.038000	0.13279	0.450000	0.21762	-0.021000	0.14009	-0.291000	0.09656	GAG		0.408	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		G	8278166	A	G	8278166	3	3	395	1	0	0	0	0	1	0	0	0	3512	304	11	4	98	4	CLEC4A	12	8278166	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	917030	8278166	125573729	91	21615											
HOXC11	3227	genome.wustl.edu	37	12	54367695	54367695	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:54367695G>C	ENST00000546378.1	+	1	786	c.670G>C	c.(670-672)Gga>Cga	p.G224R	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.G224R			O43248	HXC11_HUMAN	homeobox C11	224					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						GCCGGCCAAAGGAGCCGCCCC	0.716			T	NUP98	AML																																		Dom	yes		12	12q13.3	3227	homeo box C11		L	0			12											2	2	2					12																	54367695		1532	2822	4354	52653962	SO:0001583	missense	3227				CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.670G>C	12.37:g.54367695G>C	ENSP00000446680:p.Gly224Arg		52653962	A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028689	0.35797	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	D;T	0.95724	-3.79;1.86	4.22	4.22	0.49857	Homeodomain-related (1);Homeodomain-like (1);	0.143200	0.64402	D	0.000013	D	0.86715	0.5999	N	0.08118	0	0.37139	D	0.901614	B	0.34103	0.437	B	0.31495	0.131	D	0.86827	0.2008	10	0.66056	D	0.02	.	6.1702	0.20412	0.1015:0.1919:0.7066:0.0	.	224	O43248	HXC11_HUMAN	R	224	ENSP00000446680:G224R;ENSP00000243082:G224R	ENSP00000243082:G224R	G	+	1	0	HOXC11	52653962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.970000	0.29383	2.343000	0.79666	0.561000	0.74099	GGA		0.716	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			C	54367695	G	C	54367695	3	2	395	1	0	0	0	0	1	0	0	0	7310	1001	35	3	672	3	HOXC11	12	54367695	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	46089529	54367695	79484200	92	21616											
GPR84	53831	genome.wustl.edu	37	12	54756634	54756634	+	Silent	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:54756634G>T	ENST00000551809.1	-	1	1637	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.P334P			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	334						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCAGCAAGAAGGGGATGTAGC	0.532																																																0			12											136	135	135					12																	54756634		2203	4300	6503	53042901	SO:0001819	synonymous_variant	53831			AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1002C>A	12.37:g.54756634G>T			53042901	B6V9G7	Silent	SNP	ENST00000551809.1	37	CCDS8878.1																																																																																				0.532	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			T	54756634	G	T	54756634	2	4	395	1	0	0	0	0	0	0	0	1	6714	987	35	3		3	GPR84	12	54756634	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	388939	54756634	79095261	93	21617											
LRP1	4035	genome.wustl.edu	37	12	57600504	57600504	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:57600504C>T	ENST00000243077.3	+	76	12305	c.11839C>T	c.(11839-11841)Cgg>Tgg	p.R3947W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3947					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACAGATTGACCGGGGTGTCAC	0.602																																																0			12											66	54	58					12																	57600504		2203	4300	6503	55886771	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11839C>T	12.37:g.57600504C>T	ENSP00000243077:p.Arg3947Trp		55886771	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301494	0.60195	.	.	ENSG00000123384	ENST00000243077	D	0.91180	-2.8	5.38	2.14	0.27477	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.488750	0.18177	N	0.149263	T	0.80747	0.4682	N	0.24115	0.695	0.80722	D	1	P	0.41929	0.765	B	0.33799	0.17	T	0.78727	-0.2091	10	0.66056	D	0.02	.	9.7761	0.40621	0.1262:0.3645:0.5093:0.0	.	3947	Q07954	LRP1_HUMAN	W	3947	ENSP00000243077:R3947W	ENSP00000243077:R3947W	R	+	1	2	LRP1	55886771	0.741000	0.28217	0.997000	0.53966	0.998000	0.95712	0.290000	0.18975	0.707000	0.31934	0.655000	0.94253	CGG		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57600504	C	T	57600504	3	4	395	1	0	0	0	0	1	0	0	0	8951	643	23	1	12141	1	LRP1	12	57600504	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	2843870	57600504	76251391	94	21618											
GLI1	2735	genome.wustl.edu	37	12	57861946	57861946	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:57861946G>C	ENST00000228682.2	+	10	1338	c.1247G>C	c.(1246-1248)aGg>aCg	p.R416T	GLI1_ENST00000546141.1_Missense_Mutation_p.R375T|GLI1_ENST00000543426.1_Missense_Mutation_p.R288T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	416					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GAGCCCAAGAGGGAGCGGGAA	0.622																																					Pancreas(157;841 1936 10503 41495 50368)											0			12											52	50	50					12																	57861946		2203	4300	6503	56148213	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1247G>C	12.37:g.57861946G>C	ENSP00000228682:p.Arg416Thr		56148213	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273795	0.40194	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.13307	2.73;2.6;2.68;2.68	4.95	4.95	0.65309	.	0.112768	0.38436	N	0.001693	T	0.08313	0.0207	N	0.22421	0.69	0.28703	N	0.903953	B	0.16166	0.016	B	0.21546	0.035	T	0.23726	-1.0180	10	0.17369	T	0.5	.	6.8062	0.23779	0.0898:0.0:0.7332:0.177	.	416	P08151	GLI1_HUMAN	T	288;416;375;375;288	ENSP00000437607:R288T;ENSP00000228682:R416T;ENSP00000441006:R375T;ENSP00000434408:R375T	ENSP00000228682:R416T	R	+	2	0	GLI1	56148213	0.997000	0.39634	1.000000	0.80357	0.974000	0.67602	0.900000	0.28431	2.449000	0.82847	0.655000	0.94253	AGG		0.622	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		C	57861946	G	C	57861946	3	2	395	1	0	0	0	0	1	0	0	0	6437	1000	35	3	1281	3	GLI1	12	57861946	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	261442	57861946	75989949	95	21619											
OS9	10956	genome.wustl.edu	37	12	58114203	58114203	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:58114203A>C	ENST00000315970.7	+	14	1821	c.1780A>C	c.(1780-1782)Aaa>Caa	p.K594Q	OS9_ENST00000435406.2_Missense_Mutation_p.K487Q|OS9_ENST00000413095.2_Missense_Mutation_p.K333Q|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.K579Q|OS9_ENST00000389142.5_Missense_Mutation_p.K524Q|OS9_ENST00000257966.8_Missense_Mutation_p.K540Q|OS9_ENST00000552285.1_Missense_Mutation_p.K539Q|OS9_ENST00000551035.1_Missense_Mutation_p.K507Q|OS9_ENST00000439210.2_Missense_Mutation_p.K465Q	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	594					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AATTGAGATCAAAATTGTCCG	0.552																																																0			12											89	86	87					12																	58114203		2203	4300	6503	56400470	SO:0001583	missense	10956			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1780A>C	12.37:g.58114203A>C	ENSP00000318165:p.Lys594Gln		56400470	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454142	0.84209	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.56444	0.65;1.13;0.74;1.09;0.46;0.69;0.68;0.59;0.76	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	L	0.32530	0.975	0.24281	N	0.995204	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.996;0.999;0.967;1.0;0.999	D;D;D;P;D;P;D;D	0.91635	0.994;0.997;0.991;0.857;0.994;0.65;0.999;0.991	T	0.55817	-0.8081	10	0.44086	T	0.13	.	13.1995	0.59758	1.0:0.0:0.0:0.0	.	465;507;333;540;524;539;579;594	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	Q	539;594;465;579;333;507;540;487;524	ENSP00000450010:K539Q;ENSP00000318165:K594Q;ENSP00000407360:K465Q;ENSP00000373798:K579Q;ENSP00000413112:K333Q;ENSP00000447866:K507Q;ENSP00000257966:K540Q;ENSP00000389632:K487Q;ENSP00000373794:K524Q	ENSP00000257966:K540Q	K	+	1	0	OS9	56400470	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.072000	0.64389	2.107000	0.64212	0.533000	0.62120	AAA		0.552	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		C	58114203	A	C	58114203	3	2	395	1	0	0	0	0	1	0	0	0	11272	131	5	5	1834	5	OS9	12	58114203	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	252257	58114203	75737692	96	21620											
SSH1	54434	genome.wustl.edu	37	12	109182204	109182204	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:109182204G>A	ENST00000326495.5	-	15	2803	c.2710C>T	c.(2710-2712)Cgc>Tgc	p.R904C	SSH1_ENST00000360239.3_Missense_Mutation_p.R592C	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	904	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGTCCAGGCGGTAGAAGAAA	0.582																																																0			12											31	34	33					12																	109182204		2186	4275	6461	107706333	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2710C>T	12.37:g.109182204G>A	ENSP00000315713:p.Arg904Cys		107706333	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787542	0.49997	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.16073	2.51;2.37	5.31	5.31	0.75309	.	0.541571	0.19508	N	0.112563	T	0.38719	0.1051	M	0.64997	1.995	0.42647	D	0.993434	D;D	0.89917	1.0;1.0	D;D	0.87578	0.959;0.998	T	0.02581	-1.1138	10	0.44086	T	0.13	-33.657	13.8986	0.63787	0.0:0.0:0.7255:0.2745	.	904;592	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	C	592;904	ENSP00000353374:R592C;ENSP00000315713:R904C	ENSP00000315713:R904C	R	-	1	0	SSH1	107706333	1.000000	0.71417	0.994000	0.49952	0.505000	0.33919	2.755000	0.47540	2.674000	0.91012	0.650000	0.86243	CGC		0.582	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		A	109182204	G	A	109182204	3	1	395	1	0	0	0	0	1	0	0	0	15186	1116	39	1	443	1	SSH1	12	109182204	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	51068001	109182204	24669691	97	21621											
CCDC60	160777	genome.wustl.edu	37	12	119961528	119961528	+	Nonsense_Mutation	SNP	C	C	G	rs376933242		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr12:119961528C>G	ENST00000327554.2	+	11	1599	c.1134C>G	c.(1132-1134)taC>taG	p.Y378*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	378										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ACATCCACTACAAGAGTGGGG	0.527																																																0			12											112	90	98					12																	119961528		2203	4300	6503	118445911	SO:0001587	stop_gained	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1134C>G	12.37:g.119961528C>G	ENSP00000333374:p.Tyr378*		118445911		Nonsense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	37	6.446674	0.97572	.	.	ENSG00000183273	ENST00000327554	.	.	.	4.16	2.26	0.28386	.	1.577390	0.03778	N	0.260838	.	.	.	.	.	.	0.20307	N	0.999913	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1982	5.8788	0.18844	0.0:0.7431:0.0:0.2569	.	.	.	.	X	378	.	.	Y	+	3	2	CCDC60	118445911	0.511000	0.26179	0.016000	0.15963	0.012000	0.07955	0.610000	0.24253	0.375000	0.24679	0.655000	0.94253	TAC		0.527	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		G	119961528	C	G	119961528	4	3	395	1	0	0	0	0	0	1	0	0	2831	489	17	3	1176	3	CCDC60	12	119961528	Nonsense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	10779324	119961528	13890367	98	21622											
KBTBD7	84078	genome.wustl.edu	37	13	41766912	41766912	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr13:41766912C>T	ENST00000379483.3	-	1	1790	c.1482G>A	c.(1480-1482)atG>atA	p.M494I		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	494										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CATAGCAAAGCATGCGCTTAC	0.423																																																0			13											69	62	64					13																	41766912		2203	4300	6503	40664912	SO:0001583	missense	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1482G>A	13.37:g.41766912C>T	ENSP00000368797:p.Met494Ile		40664912	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	8.096	0.775532	0.16051	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.64085	-0.08	5.5	4.65	0.58169	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.40543	1.245	0.47949	D	0.999555	B	0.30406	0.278	B	0.24155	0.051	T	0.54669	-0.8259	10	0.66056	D	0.02	.	13.536	0.61646	0.157:0.8429:0.0:0.0	.	494	Q8WVZ9	KBTB7_HUMAN	I	494;396	ENSP00000368797:M494I	ENSP00000368797:M494I	M	-	3	0	KBTBD7	40664912	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	6.342000	0.72982	1.298000	0.44778	0.650000	0.86243	ATG		0.423	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		T	41766912	C	T	41766912	3	4	395	1	0	0	0	0	1	0	0	0	7998	710	25	2	576	2	KBTBD7	13	41766912	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09		41766912	73402966	99	21623											
BCL2L2	599	genome.wustl.edu	37	14	23777076	23777076	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr14:23777076G>T	ENST00000250405.5	+	3	329	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W	BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.G34W|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.G34W	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	34					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		AGCTGGCCCCGGGGAGGGCCC	0.642																																																0			14											37	40	39					14																	23777076		2203	4298	6501	22846916	SO:0001583	missense	599			D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	995	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 51"	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.100G>T	14.37:g.23777076G>T	ENSP00000250405:p.Gly34Trp		22846916	A8K0F4|Q2M3U0|Q5U0H4	Missense_Mutation	SNP	ENST00000250405.5	37	CCDS9591.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059882	0.55325	.	.	ENSG00000129473;ENSG00000129473;ENSG00000129473;ENSG00000129473;ENSG00000129473;ENSG00000258643;ENSG00000258643;ENSG00000258643	ENST00000553824;ENST00000250405;ENST00000557236;ENST00000557579;ENST00000554635;ENST00000553781;ENST00000556100;ENST00000557008	T;T;T;T;T;T	0.49432	0.78;1.8;1.84;2.83;0.78;2.83	5.73	5.73	0.89815	.	0.099013	0.42964	D	0.000625	T	0.63803	0.2542	L	0.48642	1.525	0.36065	D	0.841735	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.929	T	0.70525	-0.4848	10	0.87932	D	0	-12.8585	17.3963	0.87446	0.0:0.0:1.0:0.0	.	34;34	G3V5R7;Q92843	.;B2CL2_HUMAN	W	34	ENSP00000250405:G34W;ENSP00000451701:G34W;ENSP00000452265:G34W;ENSP00000451320:G34W;ENSP00000450916:G34W;ENSP00000452479:G34W	ENSP00000250405:G34W	G	+	1	0	RP11-124D2.2;BCL2L2	22846916	0.701000	0.27806	0.996000	0.52242	0.814000	0.46013	1.695000	0.37763	2.722000	0.93159	0.655000	0.94253	GGG		0.642	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050		T	23777076	G	T	23777076	3	4	395	1	0	0	0	0	1	0	0	0	1374	1116	39	3	102	3	BCL2L2	14	23777076	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09		23777076	83572464	100	21624											
THAP10	56906	genome.wustl.edu	37	15	71184262	71184262	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr15:71184262G>T	ENST00000249861.4	-	1	862	c.350C>A	c.(349-351)gCa>gAa	p.A117E	LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_5'Flank|LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000260382.5_5'Flank	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	117							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATGCCTGGCTGCCTGGAGCTC	0.682																																																0			15											34	35	35					15																	71184262		2199	4297	6496	68971316	SO:0001583	missense	56906			AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"THAP (C2CH-type zinc finger) domain containing"	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.350C>A	15.37:g.71184262G>T	ENSP00000249861:p.Ala117Glu		68971316	B2R8R0	Missense_Mutation	SNP	ENST00000249861.4	37	CCDS10237.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140330	0.37825	.	.	ENSG00000129028	ENST00000249861	.	.	.	2.47	1.53	0.23141	.	.	.	.	.	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	P	0.38827	0.649	B	0.38655	0.278	T	0.14643	-1.0465	8	0.06494	T	0.89	.	4.9959	0.14240	0.1804:0.0:0.8196:0.0	.	117	Q9P2Z0	THA10_HUMAN	E	117	.	ENSP00000249861:A117E	A	-	2	0	THAP10	68971316	0.007000	0.16637	0.020000	0.16555	0.541000	0.35023	0.481000	0.22260	0.360000	0.24265	0.561000	0.74099	GCA		0.682	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		T	71184262	G	T	71184262	3	4	395	1	0	0	0	0	1	0	0	0	15842	1319	46	3	435	3	THAP10	15	71184262	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09		71184262	31347130	101	21625											
ALDH1A3	220	genome.wustl.edu	37	15	101420211	101420211	+	Splice_Site	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr15:101420211G>C	ENST00000329841.5	+	1	631	c.99G>C	c.(97-99)aaG>aaC	p.K33N	ALDH1A3_ENST00000346623.6_Splice_Site_p.K33N|ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000557963.1_Missense_Mutation_p.K33N|RP11-66B24.8_ENST00000558568.1_lincRNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	33					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	AGTTCACCAAGGTGAGGCGGG	0.771																																																0			15											6	10	9					15																	101420211		1486	2737	4223	99237734	SO:0001630	splice_region_variant	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.99+1G>C	15.37:g.101420211G>C			99237734	Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698733	0.88830	.	.	ENSG00000184254	ENST00000329841;ENST00000415812;ENST00000346623	T;T	0.16597	2.33;2.38	3.65	3.65	0.41850	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.107471	0.64402	D	0.000007	T	0.25975	0.0633	N	0.19112	0.55	0.34143	D	0.666618	D;B;B	0.58620	0.983;0.23;0.23	D;B;B	0.72982	0.979;0.063;0.063	T	0.40403	-0.9565	10	0.62326	D	0.03	.	14.0922	0.64998	0.0:0.0:1.0:0.0	.	44;33;33	Q7Z3A2;B2R5T2;P47895	.;.;AL1A3_HUMAN	N	33;33;44	ENSP00000332256:K33N;ENSP00000343294:K44N	ENSP00000332256:K33N	K	+	3	2	ALDH1A3	99237734	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.568000	0.60857	1.860000	0.53959	0.561000	0.74099	AAG		0.771	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		Missense_Mutation	C	101420211	G	C	101420211	5	2	395	1	0	0	0	0	0	0	1	0	492	1014	35	3	101	3	ALDH1A3	15	101420211	Splice_Site	SNP	G	TCGA-36-2547-01A-01D-1526-09	30235949	101420211	1111181	102	21626											
PMM2	5373	genome.wustl.edu	37	16	8898695	8898695	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr16:8898695A>G	ENST00000268261.4	+	3	316	c.250A>G	c.(250-252)Aga>Gga	p.R84G	PMM2_ENST00000539622.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.R57G|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	84					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ACTCTTGTGTAGACAGGTAGG	0.353																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)											0			16											112	108	109					16																	8898695		2197	4300	6497	8806196	SO:0001583	missense	5373			BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"phosphomannose isomerase 1"	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.250A>G	16.37:g.8898695A>G	ENSP00000268261:p.Arg84Gly		8806196	A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	ENST00000268261.4	37	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776647	0.31411	.	.	ENSG00000140650	ENST00000268261	D	0.98419	-4.92	5.73	5.73	0.89815	HAD-like domain (1);	0.153262	0.64402	D	0.000018	D	0.96052	0.8714	L	0.31926	0.97	0.80722	D	1	B;B	0.24823	0.112;0.007	B;B	0.30646	0.118;0.057	D	0.94323	0.7555	10	0.31617	T	0.26	.	15.1963	0.73092	1.0:0.0:0.0:0.0	.	84;84	B7Z3M6;O15305	.;PMM2_HUMAN	G	84	ENSP00000268261:R84G	ENSP00000268261:R84G	R	+	1	2	PMM2	8806196	1.000000	0.71417	0.996000	0.52242	0.295000	0.27426	4.409000	0.59768	2.180000	0.69256	0.533000	0.62120	AGA		0.353	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	NM_000303		G	8898695	A	G	8898695	3	3	395	1	0	0	0	0	1	0	0	0	12137	412	15	4	260	4	PMM2	16	8898695	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09		8898695	81456058	103	21627											
KIFC3	3801	genome.wustl.edu	37	16	57800814	57800814	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr16:57800814C>G	ENST00000379655.4	-	10	1559	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	KIFC3_ENST00000543930.1_Missense_Mutation_p.K295N|KIFC3_ENST00000445690.2_Missense_Mutation_p.K434N|KIFC3_ENST00000562903.1_Missense_Mutation_p.K295N|KIFC3_ENST00000465878.2_Missense_Mutation_p.K295N|KIFC3_ENST00000421376.2_Missense_Mutation_p.K295N|KIFC3_ENST00000540079.2_Missense_Mutation_p.K332N|KIFC3_ENST00000539578.1_Missense_Mutation_p.K376N|KIFC3_ENST00000541240.1_Missense_Mutation_p.K456N	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	434					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CATTGTGGCACTTCTTACGCA	0.642																																																0			16											79	65	70					16																	57800814		2198	4300	6498	56358315	SO:0001583	missense	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1302G>C	16.37:g.57800814C>G	ENSP00000368976:p.Lys434Asn		56358315	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852564	0.71719	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.35	2.29	0.28610	.	0.045033	0.85682	D	0.000000	T	0.57242	0.2040	M	0.84433	2.695	0.50632	D	0.999882	D;D;P;P;P;P;P	0.55800	0.97;0.973;0.855;0.549;0.849;0.855;0.93	P;P;P;P;B;P;P	0.53861	0.548;0.736;0.548;0.481;0.288;0.548;0.581	T	0.61491	-0.7052	10	0.87932	D	0	.	10.3793	0.44101	0.0:0.7819:0.0:0.2181	.	456;376;295;332;139;434;295	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	N	434;434;295;456;332;295;376	ENSP00000368976:K434N;ENSP00000401696:K434N;ENSP00000396399:K295N;ENSP00000442008:K456N;ENSP00000438805:K332N;ENSP00000444012:K295N;ENSP00000444884:K376N	ENSP00000368976:K434N	K	-	3	2	KIFC3	56358315	0.843000	0.29541	1.000000	0.80357	0.988000	0.76386	-0.037000	0.12164	0.238000	0.21222	-0.216000	0.12614	AAG		0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		G	57800814	C	G	57800814	3	3	395	1	0	0	0	0	1	0	0	0	8314	564	20	3	1248	3	KIFC3	16	57800814	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	48902119	57800814	32553939	104	21628											
CTRB1	1504	genome.wustl.edu	37	16	75258620	75258620	+	Silent	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr16:75258620C>T	ENST00000361017.4	+	7	656	c.648C>T	c.(646-648)ccC>ccT	p.P216P	RP11-331F4.4_ENST00000489723.1_RNA	NM_001906.4	NP_001897.4	P17538	CTRB1_HUMAN	chymotrypsinogen B1	216	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)	Aprotinin(DB06692)	CTGGCGGCCCCCTGGTCTGCC	0.657																																																0			16											47	47	47					16																	75258620		2198	4300	6498	73816121	SO:0001819	synonymous_variant	1504				CCDS32490.1	16q23.1	2008-02-05			ENSG00000168925	ENSG00000168925	3.4.21.1		2521	protein-coding gene	gene with protein product		118890		CTRB		2917002, 8186414	Standard	NM_001906		Approved		uc002fds.3	P17538	OTTHUMG00000159272	ENST00000361017.4:c.648C>T	16.37:g.75258620C>T			73816121		Silent	SNP	ENST00000361017.4	37	CCDS32490.1																																																																																				0.657	CTRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354300.2	NM_001906		T	75258620	C	T	75258620	2	4	395	1	0	0	0	0	0	0	0	1	4025	610	22	2		2	CTRB1	16	75258620	Silent	SNP	C	TCGA-36-2547-01A-01D-1526-09	17457806	75258620	15096133	105	21629											
TOP3A	7156	genome.wustl.edu	37	17	18181361	18181361	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr17:18181361C>A	ENST00000321105.5	-	18	2669	c.2455G>T	c.(2455-2457)Gct>Tct	p.A819S	TOP3A_ENST00000542570.1_Missense_Mutation_p.A724S|TOP3A_ENST00000540524.1_Missense_Mutation_p.A349S	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	819	2 X 27 AA approximate repeats.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGCAGCACAGCCTCCTGGCCA	0.612																																																0			17											47	49	48					17																	18181361		2203	4300	6503	18122086	SO:0001583	missense	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2455G>T	17.37:g.18181361C>A	ENSP00000321636:p.Ala819Ser		18122086	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420485	0.62622	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.25579	1.79;1.79;1.79	5.55	5.55	0.83447	Zinc finger, GRF-type (1);	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.64630	1.985	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.62298	0.9;0.9	T	0.29274	-1.0017	10	0.42905	T	0.14	-21.5771	19.4999	0.95090	0.0:1.0:0.0:0.0	.	724;819	B4DK80;Q13472	.;TOP3A_HUMAN	S	819;349;724	ENSP00000321636:A819S;ENSP00000446425:A349S;ENSP00000442336:A724S	ENSP00000321636:A819S	A	-	1	0	TOP3A	18122086	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.529000	0.81952	2.621000	0.88768	0.549000	0.68633	GCT		0.612	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			A	18181361	C	A	18181361	3	1	395	1	0	0	0	0	1	0	0	0	16367	739	26	3	558	3	TOP3A	17	18181361	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09		18181361	63013849	106	21630											
MYO1D	4642	genome.wustl.edu	37	17	31065331	31065331	+	Silent	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr17:31065331C>G	ENST00000318217.5	-	14	1990	c.1686G>C	c.(1684-1686)ctG>ctC	p.L562L	MYO1D_ENST00000579584.1_Silent_p.L562L|MYO1D_ENST00000394649.4_Silent_p.L474L|MYO1D_ENST00000584232.1_5'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	562	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TAGCAGCAGTCAGAGGTCGCT	0.373																																																0			17											91	95	94					17																	31065331		2203	4300	6503	28089444	SO:0001819	synonymous_variant	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1686G>C	17.37:g.31065331C>G			28089444	A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	CCDS32615.1																																																																																				0.373	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			G	31065331	C	G	31065331	2	3	395	1	0	0	0	0	0	0	0	1	10071	813	29	3		3	MYO1D	17	31065331	Silent	SNP	C	TCGA-36-2547-01A-01D-1526-09	12883970	31065331	50129879	107	21631											
LAMA1	284217	genome.wustl.edu	37	18	7050779	7050779	+	Silent	SNP	T	T	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr18:7050779T>G	ENST00000389658.3	-	4	595	c.502A>C	c.(502-504)Aga>Cga	p.R168R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	168	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGCCCTCGTCTTGGAGTTATA	0.512																																																0			18											124	102	109					18																	7050779		2203	4300	6503	7040779	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.502A>C	18.37:g.7050779T>G			7040779		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	7050779	T	G	7050779	2	3	395	1	0	0	0	0	0	0	0	1	8605	1617	56	5		5	LAMA1	18	7050779	Silent	SNP	T	TCGA-36-2547-01A-01D-1526-09		7050779	71026469	108	21632											
LAMA3	3909	genome.wustl.edu	37	18	21519187	21519187	+	Splice_Site	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr18:21519187C>G	ENST00000313654.9	+	68	9104	c.8863C>G	c.(8863-8865)Ctg>Gtg	p.L2955V	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.L1290V|LAMA3_ENST00000399516.3_Splice_Site_p.L2899V|LAMA3_ENST00000269217.6_Splice_Site_p.L1346V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2955					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCCCATGCAGCTGTTGCAGGA	0.498																																																0			18											98	96	96					18																	21519187		2203	4300	6503	19773185	SO:0001630	splice_region_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8863-1C>G	18.37:g.21519187C>G			19773185	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825289	0.16749	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.18174	2.24;2.23;3.8	5.28	4.41	0.53225	.	.	.	.	.	T	0.10680	0.0261	N	0.24115	0.695	0.37058	D	0.897938	B;B;B;B	0.28378	0.172;0.209;0.009;0.105	B;B;B;B	0.24394	0.039;0.053;0.006;0.022	T	0.22765	-1.0207	8	.	.	.	.	10.0391	0.42146	0.0:0.9065:0.0:0.0935	.	1290;1346;2899;2955	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	2955;2899;1346	ENSP00000324532:L2955V;ENSP00000382432:L2899V;ENSP00000269217:L1346V	.	L	+	1	2	LAMA3	19773185	0.602000	0.26916	0.855000	0.33649	0.488000	0.33401	0.591000	0.23969	1.363000	0.46019	0.561000	0.74099	CTG		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Missense_Mutation	G	21519187	C	G	21519187	5	3	395	1	0	0	0	0	0	0	1	0	8607	811	28	3	9308	3	LAMA3	18	21519187	Splice_Site	SNP	C	TCGA-36-2547-01A-01D-1526-09	14468408	21519187	56558061	109	21633											
DSC1	1823	genome.wustl.edu	37	18	28712568	28712568	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr18:28712568A>G	ENST00000257198.5	-	14	2462	c.2201T>C	c.(2200-2202)aTt>aCt	p.I734T	DSC1_ENST00000257197.3_Missense_Mutation_p.I734T|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	734					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTGATACAATTAAATTTTG	0.348																																																0			18											165	161	162					18																	28712568		2202	4300	6502	26966566	SO:0001583	missense	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2201T>C	18.37:g.28712568A>G	ENSP00000257198:p.Ile734Thr		26966566	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378427	0.82682	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60548	0.19;0.18	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000052	T	0.78368	0.4272	M	0.83223	2.63	0.53688	D	0.999976	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	T	0.81807	-0.0763	10	0.87932	D	0	.	15.8842	0.79232	1.0:0.0:0.0:0.0	.	734;734	Q08554;Q9HB00	DSC1_HUMAN;.	T	734	ENSP00000257197:I734T;ENSP00000257198:I734T	ENSP00000257197:I734T	I	-	2	0	DSC1	26966566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.913000	0.69957	2.232000	0.73038	0.533000	0.62120	ATT		0.348	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		G	28712568	A	G	28712568	3	3	395	1	0	0	0	0	1	0	0	0	4765	101	4	4	535	4	DSC1	18	28712568	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	7193381	28712568	49364680	110	21634											
TSHZ1	10194	genome.wustl.edu	37	18	72998153	72998153	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr18:72998153A>G	ENST00000580243.1	+	2	1139	c.791A>G	c.(790-792)cAc>cGc	p.H264R	TSHZ1_ENST00000322038.5_Missense_Mutation_p.H219R			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	264					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTGACGGTGCACATGAACGAG	0.592																																																0			18											94	73	80					18																	72998153		2203	4300	6503	71127141	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.791A>G	18.37:g.72998153A>G	ENSP00000464391:p.His264Arg		71127141	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	A	12.40	1.928079	0.34002	.	.	ENSG00000179981	ENST00000322038	T	0.45276	0.9	5.28	5.28	0.74379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67496	-0.5656	10	0.87932	D	0	-34.188	15.2238	0.73333	1.0:0.0:0.0:0.0	.	264	Q6ZSZ6	TSH1_HUMAN	R	219	ENSP00000323584:H219R	ENSP00000323584:H219R	H	+	2	0	TSHZ1	71127141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.957000	0.93082	2.454000	0.82982	0.561000	0.74099	CAC		0.592	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		G	72998153	A	G	72998153	3	3	395	1	0	0	0	0	1	0	0	0	16623	159	6	4	658	4	TSHZ1	18	72998153	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	44285585	72998153	5079095	111	21635											
WDR18	57418	genome.wustl.edu	37	19	991315	991315	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr19:991315C>G	ENST00000251289.5	+	7	918	c.895C>G	c.(895-897)Cag>Gag	p.Q299E	WDR18_ENST00000587001.2_Missense_Mutation_p.Q299E	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	299					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGACGTGCAGAGCAAGCA	0.677																																																0			19											33	25	28					19																	991315		2168	4256	6424	942315	SO:0001583	missense	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.895C>G	19.37:g.991315C>G	ENSP00000251289:p.Gln299Glu		942315	O60390|Q9BWR2	Missense_Mutation	SNP	ENST00000251289.5	37	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062827	0.36373	.	.	ENSG00000065268	ENST00000251289	T	0.16743	2.32	3.9	2.82	0.32997	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.184904	0.48767	D	0.000167	T	0.14527	0.0351	L	0.55481	1.735	0.34402	D	0.695361	B	0.21905	0.062	B	0.24394	0.053	T	0.19160	-1.0314	10	0.06494	T	0.89	.	11.4284	0.50025	0.1886:0.8114:0.0:0.0	.	299	Q9BV38	WDR18_HUMAN	E	299	ENSP00000251289:Q299E	ENSP00000251289:Q299E	Q	+	1	0	WDR18	942315	1.000000	0.71417	0.269000	0.24586	0.435000	0.31806	5.696000	0.68287	0.788000	0.33755	0.591000	0.81541	CAG		0.677	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			G	991315	C	G	991315	3	3	395	1	0	0	0	0	1	0	0	0	17278	711	25	3	921	3	WDR18	19	991315	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09		991315	58137668	112	21636											
MAP1S	55201	genome.wustl.edu	37	19	17838345	17838345	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr19:17838345A>T	ENST00000324096.4	+	5	2303	c.2152A>T	c.(2152-2154)Agc>Tgc	p.S718C	MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.S692C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	718	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTGGGCTGAGCCTCCCGCT	0.687																																																0			19											18	16	17					19																	17838345		2199	4296	6495	17699345	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2152A>T	19.37:g.17838345A>T	ENSP00000325313:p.Ser718Cys		17699345	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.901752	0.52227	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.19938	2.11;2.11	4.44	3.4	0.38934	.	0.000000	0.64402	D	0.000012	T	0.19327	0.0464	L	0.58101	1.795	0.31323	N	0.685789	B;B	0.18166	0.009;0.026	B;B	0.17098	0.017;0.017	T	0.14476	-1.0471	10	0.87932	D	0	-29.3196	5.1532	0.15021	0.6313:0.1878:0.0:0.1808	.	692;718	B4DH53;Q66K74	.;MAP1S_HUMAN	C	718;692	ENSP00000325313:S718C;ENSP00000439243:S692C	ENSP00000325313:S718C	S	+	1	0	MAP1S	17699345	0.000000	0.05858	0.931000	0.37212	0.540000	0.34992	0.202000	0.17295	0.533000	0.28675	0.397000	0.26171	AGC		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		T	17838345	A	T	17838345	3	4	395	1	0	0	0	0	1	0	0	0	9234	304	11	5	2170	5	MAP1S	19	17838345	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	16847030	17838345	41290638	113	21637											
ZNF101	94039	genome.wustl.edu	37	19	19790530	19790530	+	Silent	SNP	T	T	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr19:19790530T>A	ENST00000592502.1	+	4	842	c.732T>A	c.(730-732)gtT>gtA	p.V244V	ZNF101_ENST00000415784.2_Silent_p.V124V|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AAATTCATGTTAGAACTCACA	0.373																																																0			19											32	32	32					19																	19790530		2203	4300	6503	19651530	SO:0001819	synonymous_variant	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.732T>A	19.37:g.19790530T>A			19651530	C9JU83|Q0VDG9	Silent	SNP	ENST00000592502.1	37	CCDS32971.1																																																																																				0.373	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		A	19790530	T	A	19790530	2	1	395	1	0	0	0	0	0	0	0	1	17714	1741	61	5		5	ZNF101	19	19790530	Silent	SNP	T	TCGA-36-2547-01A-01D-1526-09	1952185	19790530	39338453	114	21638											
ARHGEF1	9138	genome.wustl.edu	37	19	42409343	42409343	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr19:42409343A>C	ENST00000354532.3	+	24	2414	c.2266A>C	c.(2266-2268)Act>Cct	p.T756P	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.T723P|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.T812P|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.T771P|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.T738P	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	756	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGCTCTCATCACTGAGACTGC	0.667																																																0			19											61	59	60					19																	42409343		2203	4300	6503	47101183	SO:0001583	missense	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2266A>C	19.37:g.42409343A>C	ENSP00000346532:p.Thr756Pro		47101183	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.672694	0.67928	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	3.93	3.93	0.45458	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.072667	0.52532	D	0.000074	T	0.68540	0.3012	L	0.50333	1.59	0.45490	D	0.998456	D;D;D;P	0.64830	0.969;0.982;0.994;0.707	P;P;P;B	0.62560	0.596;0.788;0.904;0.33	T	0.66630	-0.5875	10	0.34782	T	0.22	-11.205	11.0518	0.47894	1.0:0.0:0.0:0.0	.	738;771;723;756	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	P	756;723;771;738	ENSP00000346532:T756P;ENSP00000344429:T723P;ENSP00000337261:T771P;ENSP00000367394:T738P	ENSP00000337261:T771P	T	+	1	0	ARHGEF1	47101183	0.999000	0.42202	0.997000	0.53966	0.991000	0.79684	4.462000	0.60121	1.560000	0.49568	0.454000	0.30748	ACT		0.667	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		C	42409343	A	C	42409343	3	2	395	1	0	0	0	0	1	0	0	0	893	159	6	5	2405	5	ARHGEF1	19	42409343	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09	22618813	42409343	16719640	115	21639											
PSG3	5671	genome.wustl.edu	37	19	43233443	43233443	+	Missense_Mutation	SNP	T	T	G	rs146535064		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr19:43233443T>G	ENST00000327495.5	-	5	1259	c.1075A>C	c.(1075-1077)Aac>Cac	p.N359H	PSG3_ENST00000595140.1_Missense_Mutation_p.N359H	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	359	Ig-like C2-type 3.			Missing (in Ref. 9). {ECO:0000305}.	defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTGGTGGGTTAGAGTCCGCG	0.453																																																0			19											161	171	168					19																	43233443		2203	4300	6503	47925283	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1075A>C	19.37:g.43233443T>G	ENSP00000332215:p.Asn359His		47925283	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	10.81	1.456492	0.26161	.	.	ENSG00000221826	ENST00000327495	T	0.13420	2.59	1.33	1.33	0.21861	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23014	0.0556	M	0.64404	1.975	0.09310	N	1	P;P	0.46952	0.521;0.887	P;P	0.55391	0.615;0.775	T	0.08126	-1.0737	9	0.49607	T	0.09	.	4.7238	0.12931	0.0:0.0:0.0:1.0	.	359;359	P11464-2;Q16557	.;PSG3_HUMAN	H	359	ENSP00000332215:N359H	ENSP00000332215:N359H	N	-	1	0	PSG3	47925283	0.268000	0.24133	0.068000	0.19968	0.025000	0.11179	0.131000	0.15870	0.578000	0.29487	0.323000	0.21402	AAC		0.453	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		G	43233443	T	G	43233443	3	3	395	1	0	0	0	0	1	0	0	0	12659	1754	61	5	219	5	PSG3	19	43233443	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	824100	43233443	15895540	116	21640											
NOP56	10528	genome.wustl.edu	37	20	2638646	2638646	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr20:2638646A>C	ENST00000329276.5	+	12	2007	c.1491A>C	c.(1489-1491)gaA>gaC	p.E497D	SNORD86_ENST00000391196.1_RNA|NOP56_ENST00000492135.1_3'UTR|IDH3B_ENST00000488299.1_5'Flank|SNORD56_ENST00000413522.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD57_ENST00000448188.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	497	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ATGGAATGGAAGACCCATCTA	0.458																																																0			20											58	71	67					20																	2638646		2193	4291	6484	2586646	SO:0001583	missense	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1491A>C	20.37:g.2638646A>C	ENSP00000370589:p.Glu497Asp		2586646	Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541063	0.45280	.	.	ENSG00000101361	ENST00000329276	T	0.41400	1.0	4.78	-1.6	0.08426	.	0.179498	0.51477	N	0.000098	T	0.21550	0.0519	N	0.24115	0.695	0.34850	D	0.741533	B	0.02656	0.0	B	0.04013	0.001	T	0.02581	-1.1138	10	0.45353	T	0.12	-19.0993	4.2865	0.10857	0.4915:0.0:0.3545:0.154	.	497	O00567	NOP56_HUMAN	D	497	ENSP00000370589:E497D	ENSP00000370589:E497D	E	+	3	2	NOP56	2586646	0.996000	0.38824	0.945000	0.38365	0.936000	0.57629	0.341000	0.19909	-0.302000	0.08869	0.528000	0.53228	GAA		0.458	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		C	2638646	A	C	2638646	3	2	395	1	0	0	0	0	1	0	0	0	10539	69	3	5	1537	5	NOP56	20	2638646	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09		2638646	60386874	117	21641											
RRBP1	6238	genome.wustl.edu	37	20	17606168	17606168	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr20:17606168C>G	ENST00000377813.1	-	12	3346	c.3043G>C	c.(3043-3045)Gtg>Ctg	p.V1015L	RRBP1_ENST00000377807.2_Missense_Mutation_p.V582L|RRBP1_ENST00000470422.1_5'Flank|RRBP1_ENST00000455029.2_Missense_Mutation_p.V356L|RRBP1_ENST00000360807.4_Missense_Mutation_p.V582L|RRBP1_ENST00000246043.4_Missense_Mutation_p.V1015L			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1015					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTGTTCTTCACTTTCTGCTGC	0.642																																																0			20											158	116	130					20																	17606168		2203	4300	6503	17554168	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3043G>C	20.37:g.17606168C>G	ENSP00000367044:p.Val1015Leu		17554168	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	11.37	1.617836	0.28801	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.15	-0.321	0.12717	.	1.348970	0.05433	N	0.546258	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32428	-0.9907	10	0.27082	T	0.32	-1.6904	5.1744	0.15127	0.0:0.5107:0.145:0.3443	.	582	Q9P2E9-3	.	L	582;1015;582;1015;356	ENSP00000354045:V582L;ENSP00000367044:V1015L;ENSP00000367038:V582L;ENSP00000246043:V1015L;ENSP00000401206:V356L	ENSP00000246043:V1015L	V	-	1	0	RRBP1	17554168	0.000000	0.05858	0.699000	0.30290	0.959000	0.62525	-0.116000	0.10724	0.300000	0.22699	0.511000	0.50034	GTG		0.642	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		G	17606168	C	G	17606168	3	3	395	1	0	0	0	0	1	0	0	0	13681	565	20	3	1245	3	RRBP1	20	17606168	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	14967522	17606168	45419352	118	21642											
EIF2S2	8894	genome.wustl.edu	37	20	32693295	32693295	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr20:32693295C>T	ENST00000374980.2	-	2	293	c.72G>A	c.(70-72)atG>atA	p.M24I		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	24					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CCTCATCTAACATAAAAGGct	0.388																																																0			20											78	66	70					20																	32693295		2203	4300	6503	32156956	SO:0001583	missense	8894			M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.72G>A	20.37:g.32693295C>T	ENSP00000364119:p.Met24Ile		32156956	Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389045	0.61956	.	.	ENSG00000125977	ENST00000374980	T	0.41400	1.0	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.68317	2.08	0.58432	D	0.999999	P;P	0.35872	0.525;0.525	B;B	0.42214	0.38;0.38	T	0.52697	-0.8541	10	0.52906	T	0.07	-37.6721	19.8041	0.96521	0.0:1.0:0.0:0.0	.	24;24	Q6IBR8;P20042	.;IF2B_HUMAN	I	24	ENSP00000364119:M24I	ENSP00000364119:M24I	M	-	3	0	EIF2S2	32156956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.767000	0.74975	2.748000	0.94277	0.591000	0.81541	ATG		0.388	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		T	32693295	C	T	32693295	3	4	395	1	0	0	0	0	1	0	0	0	5010	478	17	2	961	2	EIF2S2	20	32693295	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	15087127	32693295	30332225	119	21643											
EMILIN3	90187	genome.wustl.edu	37	20	39990998	39990998	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr20:39990998G>T	ENST00000332312.3	-	4	1403	c.1211C>A	c.(1210-1212)gCa>gAa	p.A404E		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	404						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTCGGTGACTGCCTGCAGGGC	0.662																																																0			20											30	35	33					20																	39990998		2203	4300	6503	39424412	SO:0001583	missense	90187			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1211C>A	20.37:g.39990998G>T	ENSP00000332806:p.Ala404Glu		39424412	Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	8.341	0.828601	0.16749	.	.	ENSG00000183798	ENST00000332312	T	0.13657	2.57	5.14	1.92	0.25849	.	0.906105	0.09628	N	0.776583	T	0.10723	0.0262	L	0.54323	1.7	0.09310	N	0.999998	B	0.32245	0.361	B	0.22386	0.039	T	0.33624	-0.9861	9	.	.	.	-0.1586	2.6568	0.05015	0.1733:0.3275:0.3774:0.1218	.	404	Q9NT22	EMIL3_HUMAN	E	404	ENSP00000332806:A404E	.	A	-	2	0	EMILIN3	39424412	0.076000	0.21285	0.037000	0.18230	0.659000	0.38960	0.510000	0.22723	0.138000	0.18790	0.561000	0.74099	GCA		0.662	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		T	39990998	G	T	39990998	3	4	395	1	0	0	0	0	1	0	0	0	5095	1319	46	3	1093	3	EMILIN3	20	39990998	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	7297703	39990998	23034522	120	21644											
NPBWR2	2832	genome.wustl.edu	37	20	62737497	62737497	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr20:62737497C>T	ENST00000369768.1	-	1	1027	c.688G>A	c.(688-690)Gtg>Atg	p.V230M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	230					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTGTAGAGCACACAGATGGTG	0.662																																																0			20											57	49	52					20																	62737497		2202	4295	6497	62207941	SO:0001583	missense	2832			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.688G>A	20.37:g.62737497C>T	ENSP00000358783:p.Val230Met		62207941	Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747701	0.49257	.	.	ENSG00000125522	ENST00000369768	T	0.41758	0.99	3.9	0.0349	0.14185	GPCR, rhodopsin-like superfamily (1);	0.253757	0.31020	U	0.008413	T	0.45418	0.1341	M	0.70108	2.13	0.26012	N	0.981978	D	0.55800	0.973	P	0.53006	0.715	T	0.37478	-0.9704	10	0.72032	D	0.01	.	3.6748	0.08287	0.0:0.4064:0.2048:0.3888	.	230	P48146	NPBW2_HUMAN	M	230	ENSP00000358783:V230M	ENSP00000358783:V230M	V	-	1	0	NPBWR2	62207941	1.000000	0.71417	0.000000	0.03702	0.574000	0.36063	2.366000	0.44204	0.122000	0.18314	0.491000	0.48974	GTG		0.662	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		T	62737497	C	T	62737497	3	4	395	1	0	0	0	0	1	0	0	0	10569	478	17	2	316	2	NPBWR2	20	62737497	Missense_Mutation	SNP	C	TCGA-36-2547-01A-01D-1526-09	22746499	62737497	288023	121	21645											
PEX26	55670	genome.wustl.edu	37	22	18570811	18570811	+	Silent	SNP	T	T	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr22:18570811T>G	ENST00000329627.7	+	6	1094	c.888T>G	c.(886-888)tcT>tcG	p.S296S	PEX26_ENST00000399744.3_Silent_p.S296S|PEX26_ENST00000428061.2_Silent_p.S247S	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	296					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGCATTTTCTCGCCTCTACC	0.617																																																0			22											190	155	167					22																	18570811		2203	4300	6503	16950811	SO:0001819	synonymous_variant	55670			AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"peroxisome biogenesis factor 26"			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.888T>G	22.37:g.18570811T>G			16950811	F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	T	8.629	0.893176	0.17613	.	.	ENSG00000215193	ENST00000399746	.	.	.	5.48	-0.356	0.12583	.	.	.	.	.	T	0.36166	0.0957	.	.	.	0.26431	N	0.975947	.	.	.	.	.	.	T	0.35724	-0.9777	5	0.56958	D	0.05	0.104	5.1701	0.15105	0.0:0.319:0.1491:0.5319	.	.	.	.	R	296	.	ENSP00000382650:L296R	L	+	2	0	PEX26	16950811	0.009000	0.17119	0.001000	0.08648	0.207000	0.24258	0.386000	0.20702	-0.175000	0.10725	0.454000	0.30748	CTC		0.617	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929		G	18570811	T	G	18570811	2	3	395	1	0	0	0	0	0	0	0	1	11746	1538	54	5		5	PEX26	22	18570811	Silent	SNP	T	TCGA-36-2547-01A-01D-1526-09		18570811	32733755	122	21646											
ZNF70	7621	genome.wustl.edu	37	22	24086677	24086677	+	Silent	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr22:24086677G>A	ENST00000341976.3	-	2	1111	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTCCGGTGTGGATCTTTTGGT	0.577																																																0			22											58	49	52					22																	24086677		2203	4300	6503	22416677	SO:0001819	synonymous_variant	7621			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.651C>T	22.37:g.24086677G>A			22416677		Silent	SNP	ENST00000341976.3	37	CCDS13812.1																																																																																				0.577	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		A	24086677	G	A	24086677	2	1	395	1	0	0	0	0	0	0	0	1	18103	1164	41	2		2	ZNF70	22	24086677	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	5515866	24086677	27217889	123	21647											
APOL5	80831	genome.wustl.edu	37	22	36116671	36116671	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr22:36116671G>A	ENST00000249044.2	+	2	112	c.112G>A	c.(112-114)Gtc>Atc	p.V38I		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	38					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CGGAGGTGAGGTCTGGGGGAA	0.498																																																0			22											74	65	68					22																	36116671		2203	4300	6503	34446617	SO:0001583	missense	80831			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.112G>A	22.37:g.36116671G>A	ENSP00000249044:p.Val38Ile		34446617	Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357793	0.24598	.	.	ENSG00000128313	ENST00000249044	T	0.04551	3.6	1.53	1.53	0.23141	.	5.202800	0.01392	N	0.013292	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	P	0.45071	0.468	T	0.32955	-0.9887	10	0.59425	D	0.04	.	6.5164	0.22250	0.0:0.0:1.0:0.0	.	38	Q9BWW9	APOL5_HUMAN	I	38	ENSP00000249044:V38I	ENSP00000249044:V38I	V	+	1	0	APOL5	34446617	0.001000	0.12720	0.005000	0.12908	0.139000	0.21198	0.586000	0.23894	1.195000	0.43115	0.511000	0.50034	GTC		0.498	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		A	36116671	G	A	36116671	3	1	395	1	0	0	0	0	1	0	0	0	809	1261	44	2	118	2	APOL5	22	36116671	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	12029994	36116671	15187895	124	21648											
MYH9	4627	genome.wustl.edu	37	22	36688211	36688211	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chr22:36688211T>G	ENST00000216181.5	-	31	4395	c.4165A>C	c.(4165-4167)Aag>Cag	p.K1389Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1389					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTCTGGAGCTTCCTCTTCACC	0.607			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0			22											104	93	97					22																	36688211		2203	4300	6503	35018157	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4165A>C	22.37:g.36688211T>G	ENSP00000216181:p.Lys1389Gln		35018157	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563850	0.65651	.	.	ENSG00000100345	ENST00000216181	D	0.84223	-1.82	4.94	4.94	0.65067	Myosin tail (1);	0.221045	0.44483	D	0.000452	D	0.93510	0.7929	M	0.92169	3.28	0.80722	D	1	D	0.62365	0.991	D	0.65874	0.939	D	0.95048	0.8184	10	0.87932	D	0	.	14.8877	0.70582	0.0:0.0:0.0:1.0	.	1389	P35579	MYH9_HUMAN	Q	1389	ENSP00000216181:K1389Q	ENSP00000216181:K1389Q	K	-	1	0	MYH9	35018157	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.664000	0.54525	1.976000	0.57569	0.379000	0.24179	AAG		0.607	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		G	36688211	T	G	36688211	3	3	395	1	0	0	0	0	1	0	0	0	10042	1792	62	5	1761	5	MYH9	22	36688211	Missense_Mutation	SNP	T	TCGA-36-2547-01A-01D-1526-09	571540	36688211	14616355	125	21649											
KAL1	3730	genome.wustl.edu	37	X	8503805	8503805	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:8503805A>G	ENST00000262648.3	-	12	1818	c.1669T>C	c.(1669-1671)Tca>Cca	p.S557P	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	557	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACGATGAATGAAGCAGAAAGG	0.493																																																0			X											100	81	87					X																	8503805		2203	4300	6503	8463805	SO:0001583	missense	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1669T>C	X.37:g.8503805A>G	ENSP00000262648:p.Ser557Pro		8463805	B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255521	0.22965	.	.	ENSG00000011201	ENST00000262648	T	0.60299	0.2	4.3	4.3	0.51218	Fibronectin, type III (3);	0.130816	0.53938	D	0.000057	T	0.63022	0.2476	L	0.40543	1.245	0.26126	N	0.980483	D	0.62365	0.991	D	0.71656	0.974	T	0.53718	-0.8399	10	0.48119	T	0.1	-14.4357	7.7638	0.28968	0.8111:0.0:0.0:0.1889	.	557	P23352	KALM_HUMAN	P	557	ENSP00000262648:S557P	ENSP00000262648:S557P	S	-	1	0	KAL1	8463805	0.984000	0.35163	0.010000	0.14722	0.046000	0.14306	2.783000	0.47766	1.404000	0.46819	0.417000	0.27973	TCA		0.493	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		G	8503805	A	G	8503805	3	3	395	1	0	0	0	0	1	0	0	0	7974	246	9	4	385	4	KAL1	23	8503805	Missense_Mutation	SNP	A	TCGA-36-2547-01A-01D-1526-09		8503805	146766755	126	21650											
CTPS2	56474	genome.wustl.edu	37	X	16688749	16688749	+	Silent	SNP	T	T	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:16688749T>C	ENST00000443824.1	-	11	1886	c.1143A>G	c.(1141-1143)aaA>aaG	p.K381K	CTPS2_ENST00000380241.3_Silent_p.K381K|CTPS2_ENST00000359276.4_Silent_p.K381K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	381	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCGCCTGGAGTTTTCCCAATG	0.363																																																0			X											137	132	134					X																	16688749		2203	4300	6503	16598670	SO:0001819	synonymous_variant	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1143A>G	X.37:g.16688749T>C			16598670	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.360682	0.24598	.	.	ENSG00000047230	ENST00000455276	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	T	0.63686	0.2532	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62789	-0.6780	4	.	.	.	-20.9984	11.7663	0.51933	0.0:0.0:0.0:1.0	.	.	.	.	S	3	.	.	N	-	2	0	CTPS2	16598670	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.035000	0.57297	1.763000	0.52060	0.486000	0.48141	AAC		0.363	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		C	16688749	T	C	16688749	2	2	395	1	0	0	0	0	0	0	0	1	4023	1722	60	4		4	CTPS2	23	16688749	Silent	SNP	T	TCGA-36-2547-01A-01D-1526-09	8184944	16688749	138581811	127	21651											
DMD	1756	genome.wustl.edu	37	X	31144780	31144780	+	Silent	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:31144780G>T	ENST00000357033.4	-	78	11231	c.11025C>A	c.(11023-11025)acC>acA	p.T3675T	DMD_ENST00000378680.2_Intron|DMD_ENST00000361471.4_Intron|DMD_ENST00000541735.1_Silent_p.T1105T|DMD_ENST00000343523.2_Intron|DMD_ENST00000474231.1_Intron|DMD_ENST00000378707.3_Silent_p.T1215T|DMD_ENST00000359836.1_Intron|DMD_ENST00000378723.3_Intron|DMD_ENST00000378702.4_Silent_p.T607T|DMD_ENST00000378677.2_Silent_p.T3671T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3675					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTTTCCAGGGGTATTTCTTC	0.383																																																0			X											96	81	87					X																	31144780		2202	4300	6502	31054701	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.11025C>A	X.37:g.31144780G>T			31054701	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841569	0.16963	.	.	ENSG00000198947	ENST00000465285	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	T	0.70307	0.3209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68723	-0.5333	4	.	.	.	.	13.5828	0.61913	0.075:0.0:0.925:0.0	.	.	.	.	T	1414	.	.	P	-	1	0	DMD	31054701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.460000	0.66691	2.546000	0.85860	0.594000	0.82650	CCC		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31144780	G	T	31144780	2	4	395	1	0	0	0	0	0	0	0	1	4580	1219	43	3		3	DMD	23	31144780	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	14456031	31144780	124125780	128	21652											
UBA1	7317	genome.wustl.edu	37	X	47074275	47074275	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:47074275G>A	ENST00000335972.6	+	26	3307	c.3124G>A	c.(3124-3126)Gac>Aac	p.D1042N	UBA1_ENST00000377351.4_Missense_Mutation_p.D1042N|UBA1_ENST00000377269.3_Missense_Mutation_p.D490N	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1042					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTGCTGTAACGACGAGAGCGG	0.627																																																0			X											127	93	104					X																	47074275		2203	4300	6503	46959219	SO:0001583	missense	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.3124G>A	X.37:g.47074275G>A	ENSP00000338413:p.Asp1042Asn		46959219	Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022624	0.75275	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.51071	0.72;0.72;1.3	5.24	4.37	0.52481	Ubiquitin-activating enzyme e1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.77616	2.38	0.80722	D	1	B;B	0.29909	0.115;0.261	B;B	0.32724	0.103;0.151	T	0.51092	-0.8749	10	0.51188	T	0.08	-16.6479	10.3796	0.44104	0.0962:0.0:0.9038:0.0	.	490;1042	Q5JRR6;P22314	.;UBA1_HUMAN	N	1042;1042;490	ENSP00000366568:D1042N;ENSP00000338413:D1042N;ENSP00000366481:D490N	ENSP00000338413:D1042N	D	+	1	0	UBA1	46959219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.009000	0.93606	1.112000	0.41740	0.529000	0.55759	GAC		0.627	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		A	47074275	G	A	47074275	3	1	395	1	0	0	0	0	1	0	0	0	16827	1058	37	1	3222	1	UBA1	23	47074275	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	15929495	47074275	108196285	129	21653											
ITIH5L	347365	genome.wustl.edu	37	X	54784956	54784956	+	Silent	SNP	G	G	A			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:54784956G>A	ENST00000218436.6	-	8	1580	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	517					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCAGGTGGATGCCCAGTTCCT	0.627																																																0			X											26	24	25					X																	54784956		2202	4299	6501	54801681	SO:0001819	synonymous_variant	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1551C>T	X.37:g.54784956G>A			54801681	A6NN03	Silent	SNP	ENST00000218436.6	37	CCDS14361.1																																																																																				0.627	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		A	54784956	G	A	54784956	2	1	395	1	0	0	0	0	0	0	0	1	7908	1306	46	2		2	ITIH5L	23	54784956	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	7710681	54784956	100485604	130	21654											
MTMR8	55613	genome.wustl.edu	37	X	63551599	63551599	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:63551599G>T	ENST00000374852.3	-	11	1257	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	397	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGTGAAGATAGGGGACACTTC	0.428																																																1	Whole gene deletion(1)	ovary(1)	X											52	46	48					X																	63551599		2203	4300	6503	63468324	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1190C>A	X.37:g.63551599G>T	ENSP00000363985:p.Pro397His		63468324	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127349	0.56721	.	.	ENSG00000102043	ENST00000374852;ENST00000247400	D	0.97906	-4.6	3.42	2.54	0.30619	Myotubularin phosphatase domain (1);	0.000000	0.51477	U	0.000087	D	0.99158	0.9709	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98023	1.0372	10	0.87932	D	0	.	9.0002	0.36077	0.1178:0.0:0.8822:0.0	.	397	Q96EF0	MTMR8_HUMAN	H	397;283	ENSP00000363985:P397H	ENSP00000247400:P283H	P	-	2	0	MTMR8	63468324	1.000000	0.71417	0.044000	0.18714	0.804000	0.45430	6.289000	0.72696	0.616000	0.30141	0.600000	0.82982	CCT		0.428	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		T	63551599	G	T	63551599	3	4	395	1	0	0	0	0	1	0	0	0	9949	1000	35	3	940	3	MTMR8	23	63551599	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	8766643	63551599	91718961	131	21655											
HEPH	9843	genome.wustl.edu	37	X	65392395	65392395	+	Silent	SNP	C	C	G			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:65392395C>G	ENST00000343002.2	+	2	1030	c.366C>G	c.(364-366)ccC>ccG	p.P122P	HEPH_ENST00000374727.3_Silent_p.P125P|HEPH_ENST00000419594.1_Silent_p.P125P|HEPH_ENST00000519389.1_Silent_p.P176P|HEPH_ENST00000441993.2_Silent_p.P125P|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	122	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCACTCGTCCCTATACCATCC	0.507																																																0			X											98	90	93					X																	65392395		2203	4300	6503	65309120	SO:0001819	synonymous_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.366C>G	X.37:g.65392395C>G			65309120	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37																																																																																					0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		G	65392395	C	G	65392395	2	3	395	1	0	0	0	0	0	0	0	1	7054	668	24	3		3	HEPH	23	65392395	Silent	SNP	C	TCGA-36-2547-01A-01D-1526-09	1840796	65392395	89878165	132	21656											
AR	367	genome.wustl.edu	37	X	66943649	66943649	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:66943649G>T	ENST00000374690.3	+	8	3253	c.2729G>T	c.(2728-2730)gGg>gTg	p.G910V	AR_ENST00000396043.2_Missense_Mutation_p.G378V|AR_ENST00000396044.3_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	909	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.		K -> R (in prostate cancer). {ECO:0000269|PubMed:9438000}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ATCCTTTCTGGGAAAGTCAAG	0.483									Androgen Insensitivity Syndrome																																							0			X											186	154	165					X																	66943649		2203	4300	6503	66860374	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2729G>T	X.37:g.66943649G>T	ENSP00000363822:p.Gly910Val		66860374	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370733	0.82573	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	D;D	0.99803	-6.82;-6.82	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97081	0.9784	10	0.87932	D	0	.	14.9089	0.70740	0.0:0.0:1.0:0.0	.	378;909	F1D8N5;P10275	.;ANDR_HUMAN	V	728;910;378	ENSP00000363822:G910V;ENSP00000379358:G378V	ENSP00000363822:G910V	G	+	2	0	AR	66860374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.401000	0.81631	0.594000	0.82650	GGG		0.483	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66943649	G	T	66943649	3	4	395	1	0	0	0	0	1	0	0	0	836	1232	43	3	2783	3	AR	23	66943649	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	1551254	66943649	88326911	133	21657											
YIPF6	286451	genome.wustl.edu	37	X	67731781	67731781	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:67731781G>C	ENST00000462683.1	+	2	892	c.148G>C	c.(148-150)Gac>Cac	p.D50H	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	50					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCGGGAGTTTGACAGCTCCAC	0.418																																																0			X											156	134	141					X																	67731781		2203	4300	6503	67648506	SO:0001583	missense	286451			BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.148G>C	X.37:g.67731781G>C	ENSP00000417573:p.Asp50His		67648506	B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248023	0.59103	.	.	ENSG00000181704	ENST00000462683	T	0.45276	0.9	5.66	5.66	0.87406	.	0.048179	0.85682	D	0.000000	T	0.43942	0.1270	M	0.61703	1.905	0.80722	D	1	B	0.21147	0.052	B	0.18561	0.022	T	0.32640	-0.9899	10	0.49607	T	0.09	-1.2895	16.1014	0.81175	0.0:0.0:1.0:0.0	.	50	Q96EC8	YIPF6_HUMAN	H	50	ENSP00000417573:D50H	ENSP00000417573:D50H	D	+	1	0	YIPF6	67648506	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	7.499000	0.81566	2.404000	0.81709	0.525000	0.51046	GAC		0.418	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		C	67731781	G	C	67731781	3	2	395	1	0	0	0	0	1	0	0	0	17482	1290	45	3	154	3	YIPF6	23	67731781	Missense_Mutation	SNP	G	TCGA-36-2547-01A-01D-1526-09	788132	67731781	87538779	134	21658											
RHOXF2	84528	genome.wustl.edu	37	X	119293027	119293027	+	Silent	SNP	G	G	A	rs374278020		TCGA-36-2547-01A-01D-1526-09	TCGA-36-2547-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	02c1e018-543e-49fe-a55c-57846df082ac	55963811-0c02-4069-8d15-694e0405b70b	g.chrX:119293027G>A	ENST00000371388.3	+	2	376	c.186G>A	c.(184-186)tcG>tcA	p.S62S		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	62					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						AGTTAAAGTCGGCAGGAGCCC	0.567																																																0			X						G		0,2535		0,0,0,1094,347	4	5	5		186	-4.3	0	X		5	6,4927		0,4,2,1872,1179	no	coding-synonymous	RHOXF2	NM_032498.1		0,4,2,2966,1526	AA,AG,A,GG,G		0.1216,0.0,0.0803		62/289	119293027	6,7462	1441	3057	4498	119177055	SO:0001819	synonymous_variant	84528				CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"Homeoboxes / PRD class"	30011	protein-coding gene	gene with protein product	"cancer/testis antigen 107"	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.186G>A	X.37:g.119293027G>A			119177055	Q9BR00	Silent	SNP	ENST00000371388.3	37	CCDS14594.1																																																																																				0.567	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411977.1	NM_032498		A	119293027	G	A	119293027	2	1	395	1	0	0	0	0	0	0	0	1	13351	1103	39	1		1	RHOXF2	23	119293027	Silent	SNP	G	TCGA-36-2547-01A-01D-1526-09	51561246	119293027	35977533	135	21659											
SPEN	23013	genome.wustl.edu	37	1	16258718	16258718	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr1:16258718C>T	ENST00000375759.3	+	11	6187	c.5983C>T	c.(5983-5985)Ccc>Tcc	p.P1995S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1995					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGTGGTGGACCCCAAGGGAA	0.562																																																0			1											28	29	29					1																	16258718		2201	4294	6495	16131305	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5983C>T	1.37:g.16258718C>T	ENSP00000364912:p.Pro1995Ser		16131305	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	1.200	-0.632657	0.03584	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	4.84	4.84	0.62591	.	.	.	.	.	T	0.10508	0.0257	L	0.47716	1.5	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.30563	-0.9974	9	0.09843	T	0.71	-0.3109	12.7447	0.57276	0.0:0.92:0.0:0.08	.	1995	Q96T58	MINT_HUMAN	S	1995	ENSP00000364912:P1995S	ENSP00000364912:P1995S	P	+	1	0	SPEN	16131305	0.001000	0.12720	0.004000	0.12327	0.164000	0.22412	1.253000	0.32886	2.394000	0.81467	0.462000	0.41574	CCC		0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16258718	C	T	16258718	3	4	396	1	0	0	0	0	1	0	0	0	15040	507	18	2	6025	2	SPEN	1	16258718	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09		16258718	232991903	1	21660											
CSMD2	114784	genome.wustl.edu	37	1	33990501	33990501	+	Silent	SNP	G	G	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr1:33990501G>A	ENST00000373381.4	-	66	10553	c.10377C>T	c.(10375-10377)ggC>ggT	p.G3459G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCAGCTCCACGCCACTGTGGT	0.562																																																0			1											134	108	116					1																	33990501		2203	4300	6503	33763088	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10377C>T	1.37:g.33990501G>A			33763088	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.562	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	33990501	G	A	33990501	2	1	396	1	0	0	0	0	0	0	0	1	3945	1074	38	1		1	CSMD2	1	33990501	Silent	SNP	G	TCGA-36-2548-01A-01D-1526-09	17731783	33990501	215260120	2	21661											
CSF3R	1441	genome.wustl.edu	37	1	36938155	36938155	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr1:36938155C>T	ENST00000373106.1	-	7	1353	c.806G>A	c.(805-807)cGc>cAc	p.R269H	CSF3R_ENST00000331941.5_Missense_Mutation_p.R269H|CSF3R_ENST00000418048.2_Missense_Mutation_p.R269H|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000338937.5_Missense_Mutation_p.R269H|CSF3R_ENST00000373104.1_Missense_Mutation_p.R269H|CSF3R_ENST00000361632.4_Missense_Mutation_p.R269H|CSF3R_ENST00000373103.1_Missense_Mutation_p.R269H|CSF3R_ENST00000440588.2_Missense_Mutation_p.R269H	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	269	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGGCTTGTGGCGCAGCTCACA	0.672																																																0			1											36	37	36					1																	36938155		2196	4285	6481	36710742	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.806G>A	1.37:g.36938155C>T	ENSP00000362198:p.Arg269His		36710742		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700057	0.48307	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	4.88	3.94	0.45596	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.555420	0.19006	N	0.125202	T	0.70150	0.3191	M	0.81802	2.56	0.42207	D	0.991793	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.983;0.993;0.976;0.997	T	0.72293	-0.4336	10	0.62326	D	0.03	-26.8968	9.0552	0.36401	0.0:0.8292:0.0:0.1708	.	269;269;269;269	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	H	269	ENSP00000362198:R269H;ENSP00000362196:R269H;ENSP00000362195:R269H;ENSP00000355406:R269H;ENSP00000332180:R269H;ENSP00000401588:R269H;ENSP00000345013:R269H;ENSP00000397568:R269H	ENSP00000332180:R269H	R	-	2	0	CSF3R	36710742	1.000000	0.71417	0.999000	0.59377	0.087000	0.18053	1.432000	0.34936	2.531000	0.85337	0.655000	0.94253	CGC		0.672	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		T	36938155	C	T	36938155	3	4	396	1	0	0	0	0	1	0	0	0	3937	768	27	1	1938	1	CSF3R	1	36938155	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09	2947654	36938155	212312466	3	21662											
MAN1A2	10905	genome.wustl.edu	37	1	118039453	118039453	+	Silent	SNP	G	G	T	rs111250977		TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr1:118039453G>T	ENST00000356554.3	+	10	2088	c.1353G>T	c.(1351-1353)ggG>ggT	p.G451G		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	451					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		GGAAGAATGGGCACTTGGAAA	0.398																																					Ovarian(33;199 881 8228 13687 31538)											0			1											104	107	106					1																	118039453		2203	4299	6502	117840976	SO:0001819	synonymous_variant	10905			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1353G>T	1.37:g.118039453G>T			117840976	Q9H510	Silent	SNP	ENST00000356554.3	37	CCDS895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.17|10.17	1.276475|1.276475	0.23307|0.23307	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000421535|ENST00000449370	.|.	.|.	.|.	5.59|5.59	-8.01|-8.01	0.01122|0.01122	.|.	.|0.091717	.|0.85682	.|D	.|0.000000	T|T	0.36468|0.36468	0.0968|0.0968	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51411|0.51411	-0.8709|-0.8709	4|6	.|0.54805	.|T	.|0.06	-16.5774|-16.5774	4.2172|4.2172	0.10540|0.10540	0.5316:0.2493:0.1208:0.0982|0.5316:0.2493:0.1208:0.0982	.|.	.|.	.|.	.|.	S|V	18|184	.|.	.|ENSP00000412706:G184V	A|G	+|+	1|2	0|0	MAN1A2|MAN1A2	117840976|117840976	0.058000|0.058000	0.20735|0.20735	0.876000|0.876000	0.34364|0.34364	0.996000|0.996000	0.88848|0.88848	-0.573000|-0.573000	0.05874|0.05874	-1.170000|-1.170000	0.02769|0.02769	0.557000|0.557000	0.71058|0.71058	GCA|GGC		0.398	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		T	118039453	G	T	118039453	2	4	396	1	0	0	0	0	0	0	0	1	9211	1190	42	3		3	MAN1A2	1	118039453	Silent	SNP	G	TCGA-36-2548-01A-01D-1526-09	81101298	118039453	131211168	4	21663											
KIF21B	23046	genome.wustl.edu	37	1	200978545	200978545	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr1:200978545G>A	ENST00000422435.2	-	2	429	c.113C>T	c.(112-114)cCc>cTc	p.P38L	KIF21B_ENST00000360529.5_Missense_Mutation_p.P38L|KIF21B_ENST00000332129.2_Missense_Mutation_p.P38L|KIF21B_ENST00000461742.2_Missense_Mutation_p.P38L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	38	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGGACCTGGGGCTCTCCCGG	0.572																																																0			1											100	100	100					1																	200978545		2203	4300	6503	199245168	SO:0001583	missense	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.113C>T	1.37:g.200978545G>A	ENSP00000411831:p.Pro38Leu		199245168	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499259	0.85069	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	4.75	3.83	0.44106	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.82199	0.4985	L	0.56199	1.76	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.0;1.0	D;D;B;D	0.91635	0.999;0.999;0.004;0.999	D	0.83734	0.0200	10	0.87932	D	0	.	12.8576	0.57894	0.0788:0.0:0.9212:0.0	.	38;38;38;38	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	L	38	ENSP00000328494:P38L;ENSP00000353724:P38L;ENSP00000433808:P38L;ENSP00000411831:P38L	ENSP00000328494:P38L	P	-	2	0	KIF21B	199245168	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.567000	0.98161	1.215000	0.43411	0.655000	0.94253	CCC		0.572	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200978545	G	A	200978545	3	1	396	1	0	0	0	0	1	0	0	0	8289	1232	43	2	4893	2	KIF21B	1	200978545	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09	82939092	200978545	48272076	5	21664											
EXOC8	149371	genome.wustl.edu	37	1	231472153	231472153	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr1:231472153G>A	ENST00000360394.2	-	1	1425	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	EXOC8_ENST00000366645.1_Missense_Mutation_p.R443C|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	447					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CCTTCGATGCGAAGCTGACGA	0.488																																																0			1											55	54	54					1																	231472153		2203	4300	6503	229538776	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1339C>T	1.37:g.231472153G>A	ENSP00000353564:p.Arg447Cys		229538776	B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447219	0.63178	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.79845	-1.31;-1.31	5.97	5.05	0.67936	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88557	0.3120	10	0.54805	T	0.06	-18.7128	14.4165	0.67153	0.0:0.0:0.7327:0.2673	.	447	Q8IYI6	EXOC8_HUMAN	C	447;443	ENSP00000353564:R447C;ENSP00000355605:R443C	ENSP00000353564:R447C	R	-	1	0	EXOC8	229538776	1.000000	0.71417	0.964000	0.40570	0.835000	0.47333	6.633000	0.74286	1.510000	0.48803	0.655000	0.94253	CGC		0.488	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		A	231472153	G	A	231472153	3	1	396	1	0	0	0	0	1	0	0	0	5311	1058	37	1	842	1	EXOC8	1	231472153	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09	30493608	231472153	17778468	6	21665											
CNGA3	1261	genome.wustl.edu	37	2	99013338	99013338	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr2:99013338C>T	ENST00000272602.2	+	7	1744	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	CNGA3_ENST00000393504.1_Missense_Mutation_p.R569C|CNGA3_ENST00000409937.1_Missense_Mutation_p.R573C|CNGA3_ENST00000436404.2_Missense_Mutation_p.R551C			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	569			R -> H (in ACHM2). {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:14757870}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.R569C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGCCAACATCCGCAGCATTGG	0.587																																																1	Substitution - Missense(1)	skin(1)	2											116	112	114					2																	99013338		2203	4300	6503	98379770	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1705C>T	2.37:g.99013338C>T	ENSP00000272602:p.Arg569Cys		98379770	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747295	0.49257	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.42	1.68	0.24146	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.97051	3.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.76575	0.988;0.988;0.952	D	0.99078	1.0836	10	0.87932	D	0	.	12.8538	0.57873	0.5467:0.4533:0.0:0.0	.	573;551;569	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	C	569;551;569;573	ENSP00000377140:R569C;ENSP00000410070:R551C;ENSP00000272602:R569C;ENSP00000386761:R573C	ENSP00000272602:R569C	R	+	1	0	CNGA3	98379770	0.748000	0.28294	1.000000	0.80357	0.724000	0.41520	0.341000	0.19909	0.128000	0.18479	-0.457000	0.05445	CGC		0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		T	99013338	C	T	99013338	3	4	396	1	0	0	0	0	1	0	0	0	3598	652	23	1	1731	1	CNGA3	2	99013338	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09		99013338	144186035	7	21666											
SLC35F5	80255	genome.wustl.edu	37	2	114476795	114476795	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr2:114476795C>T	ENST00000245680.2	-	14	1845	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	SLC35F5_ENST00000470204.2_5'UTR|MIR4782_ENST00000577987.1_RNA	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	478					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ATCACAGGATCCCAATTATTA	0.308																																																0			2											65	66	66					2																	114476795		2203	4300	6503	114193265	SO:0001583	missense	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1432G>A	2.37:g.114476795C>T	ENSP00000245680:p.Asp478Asn		114193265	Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.598918|4.598918	0.87055|0.87055	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000245680;ENST00000409106|ENST00000447673	T;T|.	0.56611|.	0.45;0.46|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.064019|.	0.64402|.	D|.	0.000007|.	T|T	0.72244|0.72244	0.3436|0.3436	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.74674|.	0.984|.	T|T	0.68432|0.68432	-0.5410|-0.5410	10|5	0.52906|.	T|.	0.07|.	-17.0205|-17.0205	19.592|19.592	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	478|.	Q8WV83|.	S35F5_HUMAN|.	N|E	478;472|240	ENSP00000245680:D478N;ENSP00000386754:D472N|.	ENSP00000245680:D478N|.	D|G	-|-	1|2	0|0	SLC35F5|SLC35F5	114193265|114193265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.601000|7.601000	0.82783|0.82783	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.308	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		T	114476795	C	T	114476795	3	4	396	1	0	0	0	0	1	0	0	0	14595	855	30	2	147	2	SLC35F5	2	114476795	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09	15463457	114476795	128722578	8	21667											
PTPN18	26469	genome.wustl.edu	37	2	131117022	131117022	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr2:131117022C>A	ENST00000175756.5	+	4	433	c.332C>A	c.(331-333)aCc>aAc	p.T111N	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	111	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TTGCCTCACACCCTGCTAGAC	0.607																																																0			2											98	89	92					2																	131117022		2203	4300	6503	130833492	SO:0001583	missense	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.332C>A	2.37:g.131117022C>A	ENSP00000175756:p.Thr111Asn		130833492	B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021308	0.75275	.	.	ENSG00000072135	ENST00000175756;ENST00000409022	D	0.89552	-2.53	4.46	3.57	0.40892	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.35179	N	0.003381	D	0.95692	0.8599	H	0.96111	3.77	0.58432	D	0.999992	D;D	0.76494	0.994;0.999	D;D	0.77557	0.924;0.99	D	0.95870	0.8890	10	0.87932	D	0	.	11.0822	0.48066	0.0:0.8115:0.1885:0.0	.	111;111	E7EMB8;Q99952	.;PTN18_HUMAN	N	111	ENSP00000175756:T111N	ENSP00000175756:T111N	T	+	2	0	PTPN18	130833492	0.992000	0.36948	0.942000	0.38095	0.989000	0.77384	3.286000	0.51724	1.182000	0.42928	0.655000	0.94253	ACC		0.607	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			A	131117022	C	A	131117022	3	1	396	1	0	0	0	0	1	0	0	0	12787	507	18	3	346	3	PTPN18	2	131117022	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09	16640227	131117022	112082351	9	21668											
NPY5R	4889	genome.wustl.edu	37	4	164272349	164272349	+	Silent	SNP	C	C	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr4:164272349C>T	ENST00000515560.1	+	4	2446	c.924C>T	c.(922-924)caC>caT	p.H308H	NPY5R_ENST00000506953.1_Silent_p.H308H|NPY5R_ENST00000338566.3_Silent_p.H308H			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	308					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAGAGAACCACTCCAGAATAC	0.408																																					Melanoma(139;1287 1774 9781 19750 25599)											0			4											82	85	84					4																	164272349		2203	4300	6503	164491799	SO:0001819	synonymous_variant	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.924C>T	4.37:g.164272349C>T			164491799	Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	CCDS3804.1																																																																																				0.408	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		T	164272349	C	T	164272349	2	4	396	1	0	0	0	0	0	0	0	1	10610	564	20	2		2	NPY5R	4	164272349	Silent	SNP	C	TCGA-36-2548-01A-01D-1526-09		164272349	26881927	10	21669											
SGTB	54557	genome.wustl.edu	37	5	64966090	64966090	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr5:64966090C>T	ENST00000381007.4	-	11	1133	c.898G>A	c.(898-900)Gct>Act	p.A300T		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	300										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TGCTCTTCAGCGCTGCTGCTG	0.458																																																0			5											159	151	153					5																	64966090		2203	4300	6503	65001846	SO:0001583	missense	54557			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.898G>A	5.37:g.64966090C>T	ENSP00000370395:p.Ala300Thr		65001846		Missense_Mutation	SNP	ENST00000381007.4	37	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473292	0.26423	.	.	ENSG00000197860	ENST00000381007	T	0.60548	0.18	5.64	-4.93	0.03066	.	0.561068	0.19431	N	0.114436	T	0.25382	0.0617	N	0.03324	-0.35	0.35896	D	0.830001	B	0.06786	0.001	B	0.01281	0.0	T	0.28138	-1.0053	10	0.10111	T	0.7	-3.2663	12.7727	0.57429	0.0:0.4162:0.0:0.5838	.	300	Q96EQ0	SGTB_HUMAN	T	300	ENSP00000370395:A300T	ENSP00000370395:A300T	A	-	1	0	SGTB	65001846	0.960000	0.32886	0.015000	0.15790	0.996000	0.88848	0.720000	0.25896	-0.959000	0.03618	-0.300000	0.09419	GCT		0.458	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072		T	64966090	C	T	64966090	3	4	396	1	0	0	0	0	1	0	0	0	14229	768	27	1	20	1	SGTB	5	64966090	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09		64966090	115949170	11	21670											
DBF4	10926	genome.wustl.edu	37	7	87514430	87514430	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr7:87514430C>A	ENST00000265728.1	+	3	860	c.356C>A	c.(355-357)cCt>cAt	p.P119H		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	119	BRCT 1.				DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACCACTTCACCTCATCCCAGC	0.408																																																0			7											79	76	77					7																	87514430		2203	4300	6503	87352366	SO:0001583	missense	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.356C>A	7.37:g.87514430C>A	ENSP00000265728:p.Pro119His		87352366	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419810	0.83559	.	.	ENSG00000006634	ENST00000265728	T	0.12039	2.72	5.43	5.43	0.79202	BRCT (1);	0.228496	0.41097	D	0.000946	T	0.37320	0.0999	M	0.62723	1.935	0.51767	D	0.999932	D	0.89917	1.0	D	0.77557	0.99	T	0.03555	-1.1025	10	0.54805	T	0.06	-12.9515	19.2432	0.93891	0.0:1.0:0.0:0.0	.	119	Q9UBU7	DBF4A_HUMAN	H	119	ENSP00000265728:P119H	ENSP00000265728:P119H	P	+	2	0	DBF4	87352366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.429000	0.59901	2.550000	0.86006	0.591000	0.81541	CCT		0.408	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		A	87514430	C	A	87514430	3	1	396	1	0	0	0	0	1	0	0	0	4248	681	24	3	366	3	DBF4	7	87514430	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09		87514430	71624233	12	21671											
GATAD1	57798	genome.wustl.edu	37	7	92078169	92078169	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr7:92078169G>A	ENST00000287957.3	+	2	630	c.353G>A	c.(352-354)aGa>aAa	p.R118K		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	118						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGGGAGAAGACATATATTT	0.408																																																0			7											67	73	71					7																	92078169		2203	4300	6503	91916105	SO:0001583	missense	57798				CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"GATA zinc finger domain containing"	29941	protein-coding gene	gene with protein product	"ocular development associated gene"	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.353G>A	7.37:g.92078169G>A	ENSP00000287957:p.Arg118Lys		91916105	B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	ENST00000287957.3	37	CCDS5625.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090686	0.94149	.	.	ENSG00000157259	ENST00000287957	T	0.62788	-0.0	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	M	0.82823	2.61	0.80722	D	1	B	0.29766	0.256	B	0.27076	0.076	T	0.69928	-0.5012	10	0.87932	D	0	-9.8871	14.6806	0.69015	0.0698:0.0:0.9302:0.0	.	118	Q8WUU5	GATD1_HUMAN	K	118	ENSP00000287957:R118K	ENSP00000287957:R118K	R	+	2	0	GATAD1	91916105	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	9.213000	0.95133	1.510000	0.48803	0.460000	0.39030	AGA		0.408	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253929.2	NM_021167		A	92078169	G	A	92078169	3	1	396	1	0	0	0	0	1	0	0	0	6259	942	33	2	359	2	GATAD1	7	92078169	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09	4563739	92078169	67060494	13	21672											
PTPRZ1	5803	genome.wustl.edu	37	7	121668653	121668653	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr7:121668653C>G	ENST00000393386.2	+	14	5447	c.5036C>G	c.(5035-5037)cCt>cGt	p.P1679R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P819R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1679					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTACATCCCCTAGAGTTATA	0.378																																																0			7											188	158	168					7																	121668653		2203	4300	6503	121455889	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5036C>G	7.37:g.121668653C>G	ENSP00000377047:p.Pro1679Arg		121455889	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169655	0.78452	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;D	0.81499	0.84;-1.5	5.8	4.92	0.64577	.	0.088114	0.49916	D	0.000137	D	0.85678	0.5752	L	0.43923	1.385	0.50632	D	0.999888	D;D;D	0.76494	0.959;0.964;0.999	P;P;D	0.73708	0.79;0.573;0.981	D	0.87192	0.2235	10	0.87932	D	0	.	14.8788	0.70516	0.0:0.9313:0.0:0.0687	.	818;819;1679	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	R	1679;819	ENSP00000377047:P1679R;ENSP00000410000:P819R	ENSP00000377047:P1679R	P	+	2	0	PTPRZ1	121455889	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.373000	0.79623	1.464000	0.47987	0.650000	0.86243	CCT		0.378	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		G	121668653	C	G	121668653	3	3	396	1	0	0	0	0	1	0	0	0	12817	681	24	3	5090	3	PTPRZ1	7	121668653	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09	29590484	121668653	37470010	14	21673											
MYOM2	9172	genome.wustl.edu	37	8	2000387	2000387	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr8:2000387G>T	ENST00000262113.4	+	3	360	c.219G>T	c.(217-219)aaG>aaT	p.K73N	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	73					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTGTGCGAAGCGAGTGAGCA	0.602																																																0			8											111	97	101					8																	2000387		2203	4300	6503	1987794	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.219G>T	8.37:g.2000387G>T	ENSP00000262113:p.Lys73Asn		1987794	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	3.333	-0.136262	0.06711	.	.	ENSG00000036448	ENST00000262113	T	0.52295	0.67	4.71	0.416	0.16416	.	0.071226	0.56097	D	0.000031	T	0.37156	0.0993	M	0.62723	1.935	0.09310	N	1	B	0.32245	0.361	B	0.29440	0.102	T	0.19549	-1.0302	10	0.24483	T	0.36	.	7.9486	0.30001	0.5084:0.0:0.4916:0.0	.	73	P54296	MYOM2_HUMAN	N	73	ENSP00000262113:K73N	ENSP00000262113:K73N	K	+	3	2	MYOM2	1987794	1.000000	0.71417	0.010000	0.14722	0.006000	0.05464	0.871000	0.28023	-0.068000	0.12953	-0.768000	0.03414	AAG		0.602	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2000387	G	T	2000387	3	4	396	1	0	0	0	0	1	0	0	0	10092	962	34	3	225	3	MYOM2	8	2000387	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09		2000387	144363635	15	21674											
MFSD3	113655	genome.wustl.edu	37	8	145735156	145735156	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr8:145735156C>T	ENST00000301327.4	+	1	700	c.440C>T	c.(439-441)gCc>gTc	p.A147V	RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	147	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AAGCTGGGGGCCGCGCTAGCT	0.706											OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			8											8	8	8					8																	145735156		2114	4182	6296	145705964	SO:0001583	missense	113655				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.440C>T	8.37:g.145735156C>T	ENSP00000301327:p.Ala147Val	1696	145705964		Missense_Mutation	SNP	ENST00000301327.4	37	CCDS6431.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147747	0.57151	.	.	ENSG00000167700	ENST00000301327	T	0.58060	0.36	5.02	5.02	0.67125	Major facilitator superfamily domain, general substrate transporter (1);	0.265930	0.37393	N	0.002118	T	0.57330	0.2046	L	0.52011	1.625	0.23693	N	0.997096	P	0.47253	0.892	P	0.51055	0.657	T	0.51395	-0.8711	10	0.25106	T	0.35	-25.0729	16.1659	0.81754	0.0:1.0:0.0:0.0	.	147	Q96ES6	MFSD3_HUMAN	V	147	ENSP00000301327:A147V	ENSP00000301327:A147V	A	+	2	0	MFSD3	145705964	0.994000	0.37717	0.049000	0.19019	0.141000	0.21300	6.842000	0.75379	2.484000	0.83849	0.561000	0.74099	GCC		0.706	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		T	145735156	C	T	145735156	3	4	396	1	0	0	0	0	1	0	0	0	9532	739	26	2	442	2	MFSD3	8	145735156	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09	143734769	145735156	628866	16	21675											
TTC16	158248	genome.wustl.edu	37	9	130489348	130489348	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr9:130489348G>C	ENST00000373289.3	+	11	1605	c.1525G>C	c.(1525-1527)Gtg>Ctg	p.V509L	PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	509										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGAGCAGATGGTGGAGGGCAG	0.662																																																0			9											26	28	27					9																	130489348		2201	4295	6496	129529169	SO:0001583	missense	158248			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1525G>C	9.37:g.130489348G>C	ENSP00000362386:p.Val509Leu		129529169	B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	9.350	1.065279	0.20067	.	.	ENSG00000167094	ENST00000373289;ENST00000373288	T	0.17213	2.29	5.9	-11.8	0.00035	.	2.636200	0.00935	N	0.002773	T	0.08670	0.0215	N	0.17474	0.49	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.12734	-1.0536	10	0.35671	T	0.21	0.4256	7.767	0.28986	0.4377:0.4096:0.0794:0.0732	.	496;509	B4DZ42;Q8NEE8	.;TTC16_HUMAN	L	509;287	ENSP00000362386:V509L	ENSP00000362385:V287L	V	+	1	0	TTC16	129529169	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-3.807000	0.00361	-3.505000	0.00150	-0.266000	0.10368	GTG		0.662	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		C	130489348	G	C	130489348	3	2	396	1	0	0	0	0	1	0	0	0	16683	1261	44	3	1567	3	TTC16	9	130489348	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09		130489348	10724083	17	21676											
ARMC4	55130	genome.wustl.edu	37	10	28229687	28229687	+	Silent	SNP	C	C	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr10:28229687C>T	ENST00000305242.5	-	13	1883	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	ARMC4_ENST00000545014.1_Silent_p.S122S|ARMC4_ENST00000537576.1_Silent_p.S289S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	597					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CATACAGACTCGATTGGGCAG	0.443																																																0			10											93	89	90					10																	28229687		2203	4300	6503	28269693	SO:0001819	synonymous_variant	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1791G>A	10.37:g.28229687C>T			28269693	A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	CCDS7157.1																																																																																				0.443	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		T	28229687	C	T	28229687	2	4	396	1	0	0	0	0	0	0	0	1	953	871	31	1		1	ARMC4	10	28229687	Silent	SNP	C	TCGA-36-2548-01A-01D-1526-09		28229687	107305060	18	21677											
CTNNA3	29119	genome.wustl.edu	37	10	67829111	67829111	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr10:67829111G>T	ENST00000433211.2	-	15	2288	c.2114C>A	c.(2113-2115)gCc>gAc	p.A705D	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A705D	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATGTTCTTGGCCAGAACAAT	0.368																																																0			10											263	225	238					10																	67829111		2203	4300	6503	67499117	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2114C>A	10.37:g.67829111G>T	ENSP00000389714:p.Ala705Asp		67499117		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720009	0.89205	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.70986	-0.53;-0.53;-0.53	5.29	5.29	0.74685	.	0.000000	0.53938	D	0.000056	D	0.86602	0.5972	M	0.90252	3.1	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.89382	0.3682	10	0.87932	D	0	-9.2287	16.4194	0.83753	0.0:0.0:1.0:0.0	.	705	Q9UI47	CTNA3_HUMAN	D	705;705;44	ENSP00000389714:A705D;ENSP00000362849:A705D;ENSP00000362840:A44D	ENSP00000362840:A44D	A	-	2	0	CTNNA3	67499117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.492000	0.97957	2.483000	0.83821	0.591000	0.81541	GCC		0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		T	67829111	G	T	67829111	3	4	396	1	0	0	0	0	1	0	0	0	4014	1203	42	3	589	3	CTNNA3	10	67829111	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09	39599424	67829111	67705636	19	21678											
TEAD1	7003	genome.wustl.edu	37	11	12785801	12785801	+	Missense_Mutation	SNP	G	G	A	rs377174338		TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr11:12785801G>A	ENST00000527575.1	+	2	135	c.22G>A	c.(22-24)Ggc>Agc	p.G8S	TEAD1_ENST00000361905.4_5'UTR|TEAD1_ENST00000361985.2_Missense_Mutation_p.G8S|TEAD1_ENST00000527636.1_Missense_Mutation_p.G8S|TEAD1_ENST00000334310.6_5'UTR			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	8					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGCTGGAGCGGCAGTGAGAG	0.498																																																0			11						G	SER/GLY	1,4399	2.1+/-5.4	0,1,2199	66	73	71		22	5.8	1	11		71	0,8588		0,0,4294	no	missense	TEAD1	NM_021961.5	56	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		8/427	12785801	1,12987	2200	4294	6494	12742377	SO:0001583	missense	7003			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.22G>A	11.37:g.12785801G>A	ENSP00000435977:p.Gly8Ser		12742377	A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000527575.1	37		.	.	.	.	.	.	.	.	.	.	G	16.67	3.186768	0.57909	2.27E-4	0.0	ENSG00000187079	ENST00000527636;ENST00000527376;ENST00000527575;ENST00000361985	T;T;T;T	0.62941	0.57;1.64;-0.01;0.57	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.56411	0.1983	N	0.12746	0.255	0.80722	D	1	.	.	.	.	.	.	T	0.54470	-0.8289	8	0.30078	T	0.28	.	19.6863	0.95981	0.0:0.0:1.0:0.0	.	.	.	.	S	8	ENSP00000435233:G8S;ENSP00000432587:G8S;ENSP00000435977:G8S;ENSP00000354588:G8S	ENSP00000354588:G8S	G	+	1	0	TEAD1	12742377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.746000	0.94184	0.591000	0.81541	GGC		0.498	TEAD1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000386888.1	NM_021961		A	12785801	G	A	12785801	3	1	396	1	0	0	0	0	1	0	0	0	15738	1116	39	1	24	1	TEAD1	11	12785801	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09		12785801	122220715	20	21679											
TMEM109	79073	genome.wustl.edu	37	11	60687260	60687260	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr11:60687260T>G	ENST00000227525.3	+	2	498	c.95T>G	c.(94-96)tTg>tGg	p.L32W	TMEM109_ENST00000536171.1_Missense_Mutation_p.L32W|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	32					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CACTCAGCATTGGCCCAGTCC	0.552																																																0			11											161	134	143					11																	60687260		2203	4299	6502	60443836	SO:0001583	missense	79073				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.95T>G	11.37:g.60687260T>G	ENSP00000227525:p.Leu32Trp		60443836		Missense_Mutation	SNP	ENST00000227525.3	37	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.181654	0.38511	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000536171	.	.	.	5.34	-0.712	0.11226	.	1.013530	0.07927	N	0.976861	T	0.34919	0.0914	L	0.39898	1.24	0.09310	N	1	P	0.50156	0.932	P	0.49421	0.61	T	0.31138	-0.9954	9	0.66056	D	0.02	0.3433	5.9665	0.19328	0.0:0.4117:0.1795:0.4088	.	32	Q9BVC6	TM109_HUMAN	W	32	.	ENSP00000227525:L32W	L	+	2	0	TMEM109	60443836	0.000000	0.05858	0.000000	0.03702	0.367000	0.29736	-0.301000	0.08232	-0.042000	0.13535	-0.468000	0.05107	TTG		0.552	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		G	60687260	T	G	60687260	3	3	396	1	0	0	0	0	1	0	0	0	16025	1821	63	5	97	5	TMEM109	11	60687260	Missense_Mutation	SNP	T	TCGA-36-2548-01A-01D-1526-09	47901459	60687260	74319256	21	21680											
CD3G	917	genome.wustl.edu	37	11	118220583	118220583	+	Nonsense_Mutation	SNP	A	A	T	rs570768621|rs199676861	byFrequency	TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr11:118220583A>T	ENST00000532917.1	+	3	273	c.205A>T	c.(205-207)Aaa>Taa	p.K69*	CD3G_ENST00000392883.2_Nonsense_Mutation_p.K9*|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	69	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AACTGAAGATAAAAAAAAATG	0.403																																																0			11	GRCh37	CM983819	CD3G	M							100	97	98					11																	118220583		2200	4296	6496	117725793	SO:0001587	stop_gained	917			X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"CD molecules"	1675	protein-coding gene	gene with protein product		186740	"CD3g antigen, gamma polypeptide (TiT3 complex)"				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.205A>T	11.37:g.118220583A>T	ENSP00000431445:p.Lys69*		117725793	Q2HIZ6	Nonsense_Mutation	SNP	ENST00000532917.1	37	CCDS8395.1	.	.	.	.	.	.	.	.	.	.	A	9.764	1.170945	0.21621	.	.	ENSG00000160654	ENST00000392883;ENST00000532917	.	.	.	5.94	-2.1	0.07210	.	1.346410	0.04360	N	0.357210	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4066	0.21668	0.4952:0.1334:0.3714:0.0	.	.	.	.	X	9;69	.	ENSP00000376621:K9X	K	+	1	0	CD3G	117725793	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.104000	0.10923	-0.651000	0.05415	-0.429000	0.05907	AAA		0.403	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		T	118220583	A	T	118220583	4	4	396	1	0	0	0	0	0	1	0	0	3013	363	13	5	215	5	CD3G	11	118220583	Nonsense_Mutation	SNP	A	TCGA-36-2548-01A-01D-1526-09	57533323	118220583	16785933	22	21681											
UTP20	27340	genome.wustl.edu	37	12	101723078	101723078	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr12:101723078C>T	ENST00000261637.4	+	27	3442	c.3268C>T	c.(3268-3270)Cct>Tct	p.P1090S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1090					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)			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						TAAAGTTCTTCCTTTAGGTCG	0.413																																																0			12											157	137	144					12																	101723078		2203	4300	6503	100247209	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.3268C>T	12.37:g.101723078C>T	ENSP00000261637:p.Pro1090Ser		100247209	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237788	0.95240	.	.	ENSG00000120800	ENST00000261637	T	0.21191	2.02	5.6	5.6	0.85130	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.21586	-1.0241	10	0.09084	T	0.74	-19.463	19.9737	0.97296	0.0:1.0:0.0:0.0	.	1090	O75691	UTP20_HUMAN	S	1090	ENSP00000261637:P1090S	ENSP00000261637:P1090S	P	+	1	0	UTP20	100247209	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.556000	0.82233	2.793000	0.96121	0.591000	0.81541	CCT		0.413	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		T	101723078	C	T	101723078	3	4	396	1	0	0	0	0	1	0	0	0	17099	855	30	2	3374	2	UTP20	12	101723078	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09		101723078	32128817	23	21682											
HPD	3242	genome.wustl.edu	37	12	122281734	122281734	+	Missense_Mutation	SNP	C	C	T	rs140144597	byFrequency	TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr12:122281734C>T	ENST00000289004.4	-	12	871	c.836G>A	c.(835-837)cGc>cAc	p.R279H	HPD_ENST00000543163.1_Missense_Mutation_p.R240H	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	279					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCTCAAGTGGCGAATCTGTTT	0.537													C|||	2	0.000399361	0	0	5008	,	,		16832	0		0.001	False		,,,				2504	0.001															0			12						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	114	107	109		719,836	2.3	1	12	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	HPD	NM_001171993.1,NM_002150.2	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	240/355,279/394	122281734	3,13003	2203	4300	6503	120766117	SO:0001583	missense	3242			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.836G>A	12.37:g.122281734C>T	ENSP00000289004:p.Arg279His		120766117	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	CCDS9224.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.07	1.826537	0.32329	0.0	3.49E-4	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64803	-0.12;-0.12	4.32	2.32	0.28847	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.558450	0.19279	N	0.118206	T	0.64605	0.2613	M	0.82517	2.595	0.36281	D	0.855792	P	0.40083	0.702	B	0.39617	0.305	T	0.74559	-0.3625	10	0.48119	T	0.1	-25.6894	12.6809	0.56922	0.0:0.4062:0.5938:0.0	.	279	P32754	HPPD_HUMAN	H	279;276;240	ENSP00000289004:R279H;ENSP00000441677:R240H	ENSP00000289004:R279H	R	-	2	0	HPD	120766117	0.999000	0.42202	0.992000	0.48379	0.502000	0.33828	1.786000	0.38694	1.003000	0.39130	0.511000	0.50034	CGC		0.537	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		T	122281734	C	T	122281734	3	4	396	1	0	0	0	0	1	0	0	0	7332	768	27	1	357	1	HPD	12	122281734	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09	20558656	122281734	11570161	24	21683											
USPL1	10208	genome.wustl.edu	37	13	31205140	31205140	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr13:31205140G>A	ENST00000255304.4	+	4	739	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	133					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TGCTATTGACGGTGGAAAAGT	0.368																																					Ovarian(60;318 1180 1554 28110 31601)											0			13											63	65	64					13																	31205140		2203	4300	6503	30103140	SO:0001583	missense	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.397G>A	13.37:g.31205140G>A	ENSP00000255304:p.Gly133Ser		30103140	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	5.571	0.290166	0.10567	.	.	ENSG00000132952	ENST00000255304	T	0.05786	3.39	6.07	1.3	0.21679	.	0.646675	0.16465	N	0.213223	T	0.02688	0.0081	N	0.05574	-0.02	0.09310	N	1	B	0.21606	0.058	B	0.16722	0.016	T	0.45789	-0.9237	10	0.02654	T	1	-5.8986	10.2814	0.43541	0.3518:0.0:0.6482:0.0	.	133	Q5W0Q7	USPL1_HUMAN	S	133	ENSP00000255304:G133S	ENSP00000255304:G133S	G	+	1	0	USPL1	30103140	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.506000	0.22658	0.275000	0.22094	-0.137000	0.14449	GGT		0.368	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		A	31205140	G	A	31205140	3	1	396	1	0	0	0	0	1	0	0	0	17092	1116	39	1	407	1	USPL1	13	31205140	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09		31205140	83964738	25	21684											
FREM2	341640	genome.wustl.edu	37	13	39265898	39265898	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr13:39265898G>A	ENST00000280481.7	+	1	4633	c.4417G>A	c.(4417-4419)Gat>Aat	p.D1473N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1473					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGAATGCACGGATCAGCCTGG	0.473																																																0			13											98	79	85					13																	39265898		2203	4300	6503	38163898	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4417G>A	13.37:g.39265898G>A	ENSP00000280481:p.Asp1473Asn		38163898	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929743	0.73327	.	.	ENSG00000150893	ENST00000280481	T	0.26518	1.73	5.81	5.81	0.92471	.	0.046369	0.85682	D	0.000000	T	0.44477	0.1295	L	0.42245	1.32	0.80722	D	1	D	0.65815	0.995	D	0.64410	0.925	T	0.06917	-1.0800	10	0.42905	T	0.14	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	1473	Q5SZK8	FREM2_HUMAN	N	1473	ENSP00000280481:D1473N	ENSP00000280481:D1473N	D	+	1	0	FREM2	38163898	1.000000	0.71417	0.811000	0.32455	0.773000	0.43773	9.864000	0.99589	2.746000	0.94184	0.655000	0.94253	GAT		0.473	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39265898	G	A	39265898	3	1	396	1	0	0	0	0	1	0	0	0	6045	1174	41	2	4419	2	FREM2	13	39265898	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09	8060758	39265898	75903980	26	21685											
CATSPERB	79820	genome.wustl.edu	37	14	92076841	92076841	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr14:92076841G>C	ENST00000256343.3	-	21	2737	c.2581C>G	c.(2581-2583)Ctc>Gtc	p.L861V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	861					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTTTTGATGAGGTTAAAACCC	0.363																																																0			14											64	65	65					14																	92076841		2203	4300	6503	91146594	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2581C>G	14.37:g.92076841G>C	ENSP00000256343:p.Leu861Val		91146594	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180744	0.38511	.	.	ENSG00000133962	ENST00000256343	T	0.46819	0.86	5.75	-1.11	0.09840	.	0.730389	0.12239	N	0.486673	T	0.36908	0.0984	L	0.34521	1.04	0.09310	N	0.999999	B	0.33171	0.4	B	0.30855	0.121	T	0.14839	-1.0458	10	0.51188	T	0.08	-2.8086	16.1716	0.81820	0.0:0.0:0.7301:0.2699	.	861	Q9H7T0	CTSRB_HUMAN	V	861	ENSP00000256343:L861V	ENSP00000256343:L861V	L	-	1	0	CATSPERB	91146594	0.009000	0.17119	0.834000	0.33040	0.562000	0.35680	-0.445000	0.06845	-0.431000	0.07307	0.563000	0.77884	CTC		0.363	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		C	92076841	G	C	92076841	3	2	396	1	0	0	0	0	1	0	0	0	2691	1000	35	3	797	3	CATSPERB	14	92076841	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09		92076841	15272699	27	21686											
RNF111	54778	genome.wustl.edu	37	15	59344631	59344631	+	Splice_Site	SNP	G	G	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr15:59344631G>T	ENST00000557998.1	+	3	1294		c.e3+1		RNF111_ENST00000348370.4_Splice_Site|RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000559209.1_Splice_Site|RNF111_ENST00000434298.1_Splice_Site	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111						gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAAGCTATCGGTGAGATTTTA	0.303																																					NSCLC(72;983 1365 10746 34387 47081)											0			15											82	75	77					15																	59344631		2192	4291	6483	57131923	SO:0001630	splice_region_variant	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1007+1G>T	15.37:g.59344631G>T			57131923	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Splice_Site	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409548	0.83340	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3248	0.94258	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF111	57131923	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.748000	0.91615	2.554000	0.86153	0.514000	0.50259	.		0.303	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	Intron	T	59344631	G	T	59344631	5	4	396	1	0	0	0	0	0	0	1	0	13428	1275	44	3	1014	3	RNF111	15	59344631	Splice_Site	SNP	G	TCGA-36-2548-01A-01D-1526-09		59344631	43186761	28	21687											
NEO1	4756	genome.wustl.edu	37	15	73408959	73408959	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr15:73408959T>C	ENST00000339362.5	+	3	656	c.209T>C	c.(208-210)gTt>gCt	p.V70A	NEO1_ENST00000261908.6_Missense_Mutation_p.V70A|NEO1_ENST00000558964.1_Missense_Mutation_p.V70A|NEO1_ENST00000560262.1_Missense_Mutation_p.V70A			Q92859	NEO1_HUMAN	neogenin 1	70	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GGCTCTTCTGTTATATTAAAC	0.373																																																0			15											74	79	77					15																	73408959		2198	4297	6495	71196012	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.209T>C	15.37:g.73408959T>C	ENSP00000341198:p.Val70Ala		71196012	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016497	0.35606	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.16457	2.34;2.34	5.93	4.81	0.61882	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110223	0.64402	D	0.000008	T	0.10937	0.0267	N	0.21373	0.66	0.53005	D	0.999967	B;B;B	0.16396	0.011;0.017;0.012	B;B;B	0.28139	0.044;0.058;0.086	T	0.13683	-1.0500	10	0.10902	T	0.67	-10.767	7.9061	0.29763	0.0:0.0681:0.1389:0.7929	.	70;70;70	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	A	70	ENSP00000341198:V70A;ENSP00000261908:V70A	ENSP00000261908:V70A	V	+	2	0	NEO1	71196012	0.998000	0.40836	0.961000	0.40146	0.975000	0.68041	3.022000	0.49659	1.058000	0.40530	0.482000	0.46254	GTT		0.373	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		C	73408959	T	C	73408959	3	2	396	1	0	0	0	0	1	0	0	0	10336	1725	60	4	215	4	NEO1	15	73408959	Missense_Mutation	SNP	T	TCGA-36-2548-01A-01D-1526-09	14064328	73408959	29122433	29	21688											
POLR2C	5432	genome.wustl.edu	37	16	57504969	57504969	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr16:57504969C>G	ENST00000219252.5	+	9	1104	c.766C>G	c.(766-768)Ctg>Gtg	p.L256V		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	256					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GAAGAAGAAACTGAGTGATTT	0.458																																																0			16											119	109	113					16																	57504969		2198	4300	6498	56062470	SO:0001583	missense	5432				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"RNA polymerase subunits"	9189	protein-coding gene	gene with protein product	"RNA polymerase II subunit 3"	180663	"polymerase (RNA) II (DNA directed) polypeptide C (33kD)"			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.766C>G	16.37:g.57504969C>G	ENSP00000219252:p.Leu256Val		56062470	O15161	Missense_Mutation	SNP	ENST00000219252.5	37	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753679	0.69648	.	.	ENSG00000102978	ENST00000219252	D	0.85556	-2.0	5.59	3.3	0.37823	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.067596	0.64402	D	0.000012	D	0.91140	0.7210	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90193	0.4251	10	0.36615	T	0.2	.	12.0057	0.53257	0.0:0.7889:0.0:0.2111	.	256	P19387	RPB3_HUMAN	V	256	ENSP00000219252:L256V	ENSP00000219252:L256V	L	+	1	2	POLR2C	56062470	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.479000	0.35453	1.360000	0.45960	0.655000	0.94253	CTG		0.458	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		G	57504969	C	G	57504969	3	3	396	1	0	0	0	0	1	0	0	0	12216	564	20	3	800	3	POLR2C	16	57504969	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09		57504969	32849784	30	21689											
ANKRD11	29123	genome.wustl.edu	37	16	89346163	89346163	+	Missense_Mutation	SNP	G	G	A	rs76793093	byFrequency	TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr16:89346163G>A	ENST00000301030.4	-	9	7247	c.6787C>T	c.(6787-6789)Ccc>Tcc	p.P2263S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2263S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2263	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGGCGGGGGGGCCTTCAGCC	0.746													G|||	152	0.0303514	8e-04	0.0245	5008	,	,		8789	0.0744		0.0507	False		,,,				2504	0.0082															0			16						G	SER/PRO	14,2982		0,14,1484	2	3	2		6787	1.3	0	16	dbSNP_131	2	121,6295		0,121,3087	no	missense	ANKRD11	NM_013275.4	74	0,135,4571	AA,AG,GG		1.8859,0.4673,1.4343	probably-damaging	2263/2664	89346163	135,9277	1498	3208	4706	87873664	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6787C>T	16.37:g.89346163G>A	ENSP00000301030:p.Pro2263Ser		87873664	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	90	0.04120879120879121	0	0.0	6	0.016574585635359115	36	0.06293706293706294	48	0.0633245382585752	g	12.09	1.833606	0.32421	0.004673	0.018859	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.35789	1.29;1.29	4.96	1.28	0.21552	.	1.399020	0.04740	N	0.422636	T	0.01870	0.0059	N	0.12182	0.205	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.14282	-1.0478	10	0.13853	T	0.58	.	2.8329	0.05505	0.2569:0.1312:0.4795:0.1325	.	2263	Q6UB99	ANR11_HUMAN	S	2263	ENSP00000301030:P2263S;ENSP00000367581:P2263S	ENSP00000301030:P2263S	P	-	1	0	ANKRD11	87873664	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.923000	0.28757	0.141000	0.18875	-1.568000	0.00874	CCC		0.746	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89346163	G	A	89346163	3	1	396	1	0	0	0	0	1	0	0	0	639	1232	43	2	1224	2	ANKRD11	16	89346163	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09	31841194	89346163	1008590	31	21690											
TP53	7157	genome.wustl.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	17											48	46	47					17																	7578370		2203	4300	6503	7519095	SO:0001630	splice_region_variant	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.559+1G>T	17.37:g.7578370C>A			7519095	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7578370	C	A	7578370	5	1	396	1	0	0	0	0	0	0	1	0	16381	521	18	3	738	3	TP53	17	7578370	Splice_Site	SNP	C	TCGA-36-2548-01A-01D-1526-09		7578370	73616840	32	21691											
MYH2	4620	genome.wustl.edu	37	17	10432950	10432950	+	Silent	SNP	C	C	T	rs145796634	byFrequency	TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr17:10432950C>T	ENST00000245503.5	-	24	3432	c.3048G>A	c.(3046-3048)ctG>ctA	p.L1016L	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.L1016L|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1016					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCTGCCTGCAGGTCATCCA	0.483													c|||	10	0.00199681	0.003	0.0072	5008	,	,		19493	0		0.001	False		,,,				2504	0															0			17						C	,	6,4400	11.4+/-27.6	0,6,2197	162	156	158		3048,3048	2	1	17	dbSNP_134	158	4,8584	3.7+/-12.6	0,4,4290	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,10,6487	TT,TC,CC		0.0466,0.1362,0.077	,	1016/1942,1016/1942	10432950	10,12984	2203	4294	6497	10373675	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3048G>A	17.37:g.10432950C>T			10373675	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																				0.483	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10432950	C	T	10432950	2	4	396	1	0	0	0	0	0	0	0	1	10035	697	25	2		2	MYH2	17	10432950	Silent	SNP	C	TCGA-36-2548-01A-01D-1526-09	2854580	10432950	70762260	33	21692											
TEKT3	64518	genome.wustl.edu	37	17	15234710	15234710	+	Missense_Mutation	SNP	C	C	T	rs141313239	byFrequency	TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr17:15234710C>T	ENST00000395930.1	-	3	379	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	TEKT3_ENST00000338696.2_Missense_Mutation_p.V65M	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	65					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TACGGGGCCACGCTTGGGGAA	0.522													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		16499	0		0	False		,,,				2504	0															0			17						C	MET/VAL	7,4399	12.9+/-30.5	0,7,2196	136	128	131		193	3.2	0.5	17	dbSNP_134	131	0,8600		0,0,4300	yes	missense	TEKT3	NM_031898.2	21	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	65/491	15234710	7,12999	2203	4300	6503	15175435	SO:0001583	missense	64518			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.193G>A	17.37:g.15234710C>T	ENSP00000379263:p.Val65Met		15175435	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.829	0.154096	0.09185	0.001589	0.0	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316;ENST00000543896	T;T;T;T;T	0.43294	4.13;4.13;1.55;1.55;0.95	5.4	3.2	0.36748	.	0.237076	0.37530	N	0.002059	T	0.21062	0.0507	N	0.12182	0.205	0.20975	N	0.999818	B	0.17038	0.02	B	0.09377	0.004	T	0.13388	-1.0511	10	0.33141	T	0.24	-3.2424	5.8796	0.18848	0.7076:0.1479:0.1445:0.0	.	65	Q9BXF9	TEKT3_HUMAN	M	65	ENSP00000379263:V65M;ENSP00000343995:V65M;ENSP00000446111:V65M;ENSP00000439713:V65M;ENSP00000444180:V65M	ENSP00000343995:V65M	V	-	1	0	TEKT3	15175435	0.965000	0.33210	0.467000	0.27180	0.079000	0.17450	2.028000	0.41088	0.454000	0.26884	-0.262000	0.10625	GTG		0.522	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		T	15234710	C	T	15234710	3	4	396	1	0	0	0	0	1	0	0	0	15754	536	19	1	1307	1	TEKT3	17	15234710	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09	4801760	15234710	65960500	34	21693											
KRT10	3858	genome.wustl.edu	37	17	38978560	38978560	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr17:38978560C>G	ENST00000269576.5	-	1	287	c.278G>C	c.(277-279)aGc>aCc	p.S93T	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	93	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CCCACCAAAGCTGCTACTTCC	0.592																																																0			17											92	98	96					17																	38978560		2203	4300	6503	36232086	SO:0001583	missense	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.278G>C	17.37:g.38978560C>G	ENSP00000269576:p.Ser93Thr		36232086	Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223418	0.22457	.	.	ENSG00000186395	ENST00000269576	D	0.82255	-1.59	5.52	3.5	0.40072	.	0.167634	0.28946	N	0.013638	T	0.71953	0.3401	L	0.29908	0.895	0.80722	D	1	P	0.38922	0.651	B	0.35859	0.212	T	0.66316	-0.5954	10	0.26408	T	0.33	.	12.707	0.57065	0.1304:0.7443:0.1253:0.0	.	93	P13645	K1C10_HUMAN	T	93	ENSP00000269576:S93T	ENSP00000269576:S93T	S	-	2	0	KRT10	36232086	0.790000	0.28787	0.798000	0.32154	0.136000	0.21042	1.993000	0.40747	0.675000	0.31264	0.603000	0.83216	AGC		0.592	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		G	38978560	C	G	38978560	3	3	396	1	0	0	0	0	1	0	0	0	8448	797	28	3	1508	3	KRT10	17	38978560	Missense_Mutation	SNP	C	TCGA-36-2548-01A-01D-1526-09	23743850	38978560	42216650	35	21694											
ABCA9	10350	genome.wustl.edu	37	17	67024708	67024708	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr17:67024708T>C	ENST00000340001.4	-	12	1794	c.1583A>G	c.(1582-1584)aAc>aGc	p.N528S	ABCA9_ENST00000453985.2_Missense_Mutation_p.N528S|ABCA9_ENST00000370732.2_Missense_Mutation_p.N528S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	528	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACTAAGTATGTTTAACAGGGT	0.383																																																0			17											116	108	111					17																	67024708		2203	4300	6503	64536303	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1583A>G	17.37:g.67024708T>C	ENSP00000342216:p.Asn528Ser		64536303	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635208	0.67130	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.39787	1.06;1.06	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.130764	0.33290	N	0.005061	T	0.42381	0.1200	N	0.15975	0.35	0.32671	N	0.516849	P;P	0.52061	0.939;0.95	P;P	0.59546	0.721;0.859	T	0.51872	-0.8650	10	0.31617	T	0.26	.	14.0374	0.64654	0.0:0.0:0.0:1.0	.	528;528	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	528;511;528;523	ENSP00000342216:N528S;ENSP00000359767:N528S	ENSP00000342216:N528S	N	-	2	0	ABCA9	64536303	1.000000	0.71417	0.029000	0.17559	0.901000	0.52897	7.120000	0.77153	2.061000	0.61500	0.482000	0.46254	AAC		0.383	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		C	67024708	T	C	67024708	3	2	396	1	0	0	0	0	1	0	0	0	39	1725	60	4	3403	4	ABCA9	17	67024708	Missense_Mutation	SNP	T	TCGA-36-2548-01A-01D-1526-09	28046148	67024708	14170502	36	21695											
GYS1	2997	genome.wustl.edu	37	19	49472860	49472860	+	Silent	SNP	C	C	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr19:49472860C>A	ENST00000323798.3	-	16	2095	c.1899G>T	c.(1897-1899)ggG>ggT	p.G633G	GYS1_ENST00000263276.6_Silent_p.G569G|GYS1_ENST00000544287.1_Silent_p.G266G|GYS1_ENST00000541188.1_Silent_p.G553G	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	633					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGTAGCGGTACCCCTGGGCCT	0.672																																																0			19											26	16	19					19																	49472860		2099	4145	6244	54164672	SO:0001819	synonymous_variant	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1899G>T	19.37:g.49472860C>A			54164672	Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1																																																																																				0.672	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		A	49472860	C	A	49472860	2	1	396	1	0	0	0	0	0	0	0	1	6912	494	18	3		3	GYS1	19	49472860	Silent	SNP	C	TCGA-36-2548-01A-01D-1526-09		49472860	9656123	37	21696											
KLK8	11202	genome.wustl.edu	37	19	51503501	51503501	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr19:51503501G>A	ENST00000600767.1	-	5	733	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	KLK8_ENST00000593490.1_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.R82C|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000598195.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.R127C			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	82	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.R127C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TCTCCCAGGCGTACTGTGTAT	0.562																																																1	Substitution - Missense(1)	prostate(1)	19											171	173	173					19																	51503501		2203	4300	6503	56195313	SO:0001583	missense	11202			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.244C>T	19.37:g.51503501G>A	ENSP00000472016:p.Arg82Cys		56195313	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	ENST00000600767.1	37	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861739	0.51482	.	.	ENSG00000129455	ENST00000391806;ENST00000291726	D;D	0.89810	-2.57;-2.57	5.02	5.02	0.67125	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.49305	D	0.000142	D	0.93363	0.7884	M	0.70108	2.13	0.80722	D	1	D;D	0.89917	0.968;1.0	P;D	0.76071	0.507;0.987	D	0.93651	0.6973	10	0.72032	D	0.01	.	13.707	0.62646	0.0:0.0:1.0:0.0	.	82;127	O60259;O60259-2	KLK8_HUMAN;.	C	127;82	ENSP00000375682:R127C;ENSP00000291726:R82C	ENSP00000291726:R82C	R	-	1	0	KLK8	56195313	0.993000	0.37304	0.722000	0.30670	0.413000	0.31143	4.125000	0.57931	2.592000	0.87571	0.655000	0.94253	CGC		0.562	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		A	51503501	G	A	51503501	3	1	396	1	0	0	0	0	1	0	0	0	8410	1145	40	1	550	1	KLK8	19	51503501	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09	2030641	51503501	7625482	38	21697											
ZNF530	348327	genome.wustl.edu	37	19	58117973	58117973	+	Silent	SNP	T	T	C			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr19:58117973T>C	ENST00000332854.6	+	3	1300	c.1080T>C	c.(1078-1080)ttT>ttC	p.F360F	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAAAATCCTTTAGCCATAGCA	0.448																																																0			19											106	101	103					19																	58117973		2203	4300	6503	62809785	SO:0001819	synonymous_variant	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1080T>C	19.37:g.58117973T>C			62809785	O43340|Q9P220	Silent	SNP	ENST00000332854.6	37	CCDS12955.1																																																																																				0.448	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		C	58117973	T	C	58117973	2	2	396	1	0	0	0	0	0	0	0	1	17971	1751	61	4		4	ZNF530	19	58117973	Silent	SNP	T	TCGA-36-2548-01A-01D-1526-09	6614472	58117973	1011010	39	21698											
TMC2	117532	genome.wustl.edu	37	20	2597941	2597941	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr20:2597941G>A	ENST00000358864.1	+	16	2179	c.2164G>A	c.(2164-2166)Gac>Aac	p.D722N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	722					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCCTCCTTTGACTGCGGGCC	0.627																																																0			20											97	71	80					20																	2597941		2203	4300	6503	2545941	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2164G>A	20.37:g.2597941G>A	ENSP00000351732:p.Asp722Asn		2545941	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958924	0.74016	.	.	ENSG00000149488	ENST00000358864	T	0.64260	-0.09	5.31	5.31	0.75309	.	0.088260	0.85682	D	0.000000	T	0.70369	0.3216	L	0.41710	1.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.63152	-0.6701	10	0.15499	T	0.54	-28.2476	16.8463	0.85981	0.0:0.0:1.0:0.0	.	722	Q8TDI7	TMC2_HUMAN	N	722	ENSP00000351732:D722N	ENSP00000351732:D722N	D	+	1	0	TMC2	2545941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.632000	0.89209	0.650000	0.86243	GAC		0.627	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			A	2597941	G	A	2597941	3	1	396	1	0	0	0	0	1	0	0	0	15985	1290	45	2	2226	2	TMC2	20	2597941	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09		2597941	60427579	40	21699											
PPM1F	9647	genome.wustl.edu	37	22	22277487	22277487	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr22:22277487G>A	ENST00000263212.5	-	8	1448	c.1343C>T	c.(1342-1344)aCc>aTc	p.T448I	PPM1F_ENST00000538191.1_Missense_Mutation_p.T344I|PPM1F_ENST00000407142.1_Missense_Mutation_p.T280I	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	448					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGGAGCCTGGGTCTCAGGTTC	0.637																																																0			22											67	76	73					22																	22277487		2203	4300	6503	20607487	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1343C>T	22.37:g.22277487G>A	ENSP00000263212:p.Thr448Ile		20607487	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	G	8.153	0.787851	0.16258	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.16897	2.55;2.31;2.55	4.71	-0.853	0.10709	.	1.986030	0.02054	N	0.050243	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.24548	-1.0157	10	0.27785	T	0.31	-18.1755	2.1795	0.03871	0.1294:0.135:0.4245:0.3111	.	344;448	B7Z2C3;P49593	.;PPM1F_HUMAN	I	448;280;280;344	ENSP00000263212:T448I;ENSP00000384930:T280I;ENSP00000439915:T344I	ENSP00000263212:T448I	T	-	2	0	PPM1F	20607487	0.782000	0.28689	0.018000	0.16275	0.030000	0.12068	0.575000	0.23729	0.303000	0.22785	0.655000	0.94253	ACC		0.637	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		A	22277487	G	A	22277487	3	1	396	1	0	0	0	0	1	0	0	0	12342	1261	44	2	25	2	PPM1F	22	22277487	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09		22277487	29027079	41	21700											
RNF185	91445	genome.wustl.edu	37	22	31600476	31600476	+	Splice_Site	SNP	T	T	A			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chr22:31600476T>A	ENST00000326132.6	+	7	642	c.483T>A	c.(481-483)gcT>gcA	p.A161A	RNF185_ENST00000266252.7_Splice_Site_p.A105A|RNF185-AS1_ENST00000526089.1_RNA|RNF185_ENST00000426256.2_Splice_Site_p.A99A	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	161					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TCTCTCCAGCTGTCCCTGGGA	0.502																																																0			22											151	127	135					22																	31600476		2203	4300	6503	29930476	SO:0001630	splice_region_variant	91445				CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"RING-type (C3HC4) zinc fingers"	26783	protein-coding gene	gene with protein product	"hypothetical protein FLJ38628"					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.482-1T>A	22.37:g.31600476T>A			29930476	A8K5C1|A9X3T8|Q8N900	Silent	SNP	ENST00000326132.6	37	CCDS13890.1																																																																																				0.502	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321927.2	NM_152267	Silent	A	31600476	T	A	31600476	5	1	396	1	0	0	0	0	0	0	1	0	13471	1594	55	5	505	5	RNF185	22	31600476	Splice_Site	SNP	T	TCGA-36-2548-01A-01D-1526-09	9322989	31600476	19704090	42	21701											
PHF8	23133	genome.wustl.edu	37	X	53989292	53989292	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chrX:53989292G>T	ENST00000357988.5	-	19	2990	c.2632C>A	c.(2632-2634)Cca>Aca	p.P878T	PHF8_ENST00000322659.8_Missense_Mutation_p.P825T|PHF8_ENST00000338154.6_Missense_Mutation_p.P842T|PHF8_ENST00000338946.6_Missense_Mutation_p.P741T	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	878					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGACTCCATGGAGCATCATCT	0.423																																																0			X											184	155	165					X																	53989292		2203	4300	6503	54006017	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2632C>A	X.37:g.53989292G>T	ENSP00000350676:p.Pro878Thr		54006017	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.957817|3.957817	0.73902|0.73902	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302	T;T;T;T|.	0.60040|.	0.22;0.22;0.22;0.22|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.062950|.	0.64402|.	D|.	0.000005|.	T|T	0.71333|0.71333	0.3327|0.3327	L|L	0.58510|0.58510	1.815|1.815	0.41185|0.41185	D|D	0.986264|0.986264	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;0.998;0.994;0.996;0.996|.	T|T	0.70238|0.70238	-0.4927|-0.4927	10|5	0.87932|.	D|.	0|.	-9.9101|-9.9101	17.0575|17.0575	0.86539|0.86539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	364;842;741;777;878|.	B3KMV4;Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;.;PHF8_HUMAN|.	T|Y	878;842;741;771;825|605	ENSP00000350676:P878T;ENSP00000338868:P842T;ENSP00000340051:P741T;ENSP00000319473:P825T|.	ENSP00000319473:P825T|.	P|S	-|-	1|2	0|0	PHF8|PHF8	54006017|54006017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.531000|6.531000	0.73820|0.73820	2.291000|2.291000	0.77112|0.77112	0.431000|0.431000	0.28591|0.28591	CCA|TCC		0.423	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		T	53989292	G	T	53989292	3	4	396	1	0	0	0	0	1	0	0	0	11840	1174	41	3	692	3	PHF8	23	53989292	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09		53989292	101281268	43	21702											
TRPC5	7224	genome.wustl.edu	37	X	111078157	111078157	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chrX:111078157G>T	ENST00000262839.2	-	7	2806	c.1888C>A	c.(1888-1890)Ctt>Att	p.L630I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	630					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACGGCAATAAGCTGATAGGAG	0.443																																																0			X											223	173	190					X																	111078157		2203	4300	6503	110964813	SO:0001583	missense	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1888C>A	X.37:g.111078157G>T	ENSP00000262839:p.Leu630Ile		110964813	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427860	0.83667	.	.	ENSG00000072315	ENST00000262839	D	0.81908	-1.55	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	L	0.35644	1.08	0.80722	D	1	P;P	0.51449	0.749;0.945	B;P	0.48304	0.334;0.573	T	0.77635	-0.2514	10	0.18276	T	0.48	-2.7452	18.7427	0.91780	0.0:0.0:1.0:0.0	.	631;630	Q59G51;Q9UL62	.;TRPC5_HUMAN	I	630	ENSP00000262839:L630I	ENSP00000262839:L630I	L	-	1	0	TRPC5	110964813	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.487000	0.73633	2.371000	0.80710	0.544000	0.68410	CTT		0.443	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		T	111078157	G	T	111078157	3	4	396	1	0	0	0	0	1	0	0	0	16582	971	34	3	1053	3	TRPC5	23	111078157	Missense_Mutation	SNP	G	TCGA-36-2548-01A-01D-1526-09	57088865	111078157	44192403	44	21703											
SLITRK4	139065	genome.wustl.edu	37	X	142718596	142718596	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2548-01A-01D-1526-09	TCGA-36-2548-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f0526795-f4e2-4362-8fd8-58f5b9fc6ee7	4f689ff8-b0ef-4495-af25-6f460f515b4f	g.chrX:142718596T>C	ENST00000381779.4	-	2	554	c.329A>G	c.(328-330)aAg>aGg	p.K110R	SLITRK4_ENST00000338017.4_Missense_Mutation_p.K110R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.K110R	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	110						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCAACTGCTTTAATGCACT	0.413																																																0			X											69	66	67					X																	142718596		2203	4300	6503	142546262	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.329A>G	X.37:g.142718596T>C	ENSP00000371198:p.Lys110Arg		142546262	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377998	0.42105	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.54479	0.57;0.57;0.57	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	L	0.42245	1.32	0.58432	D	0.999994	P	0.49696	0.927	P	0.48089	0.566	T	0.47598	-0.9105	10	0.29301	T	0.29	-12.2729	13.5168	0.61545	0.0:0.0:0.0:1.0	.	110	Q8IW52	SLIK4_HUMAN	R	110	ENSP00000371198:K110R;ENSP00000349400:K110R;ENSP00000336627:K110R	ENSP00000336627:K110R	K	-	2	0	SLITRK4	142546262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	1.876000	0.54355	0.486000	0.48141	AAG		0.413	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		C	142718596	T	C	142718596	3	2	396	1	0	0	0	0	1	0	0	0	14748	1609	56	4	2188	4	SLITRK4	23	142718596	Missense_Mutation	SNP	T	TCGA-36-2548-01A-01D-1526-09	31640439	142718596	12551964	45	21704											
RNF207	388591	genome.wustl.edu	37	1	6266735	6266735	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:6266735G>A	ENST00000377939.4	+	2	267	c.140G>A	c.(139-141)gGc>gAc	p.G47D	RNF207_ENST00000377948.2_De_novo_Start_OutOfFrame|RP1-120G22.11_ENST00000455744.1_RNA	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	47						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTGTGCCGGCTGCCTGCGT	0.682																																																0			1											44	44	44					1																	6266735		2200	4299	6499	6189322	SO:0001583	missense	388591			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.140G>A	1.37:g.6266735G>A	ENSP00000367173:p.Gly47Asp		6189322	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	CCDS59.2	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561887	0.27915	.	.	ENSG00000158286	ENST00000377939	D	0.85556	-2.0	3.8	2.88	0.33553	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.215999	0.28125	U	0.016513	T	0.70107	0.3186	N	0.04043	-0.29	0.80722	D	1	P;D	0.56035	0.801;0.974	B;P	0.47402	0.438;0.546	T	0.65092	-0.6252	10	0.15952	T	0.53	-21.2261	10.0294	0.42092	0.1001:0.0:0.8999:0.0	.	47;47	Q6ZRF8;Q6ZRF8-2	RN207_HUMAN;.	D	47	ENSP00000367173:G47D	ENSP00000367173:G47D	G	+	2	0	RNF207	6189322	1.000000	0.71417	0.982000	0.44146	0.271000	0.26615	4.403000	0.59729	0.807000	0.34208	0.313000	0.20887	GGC		0.682	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		A	6266735	G	A	6266735	3	1	397	1	0	0	0	0	1	0	0	0	13477	1203	42	2	142	2	RNF207	1	6266735	Missense_Mutation	SNP	G	TCGA-36-2551-01A-01D-1526-09		6266735	242983886	1	21705											
DENND2C	163259	genome.wustl.edu	37	1	115130079	115130079	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:115130079C>T	ENST00000393274.1	-	20	3309	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	DENND2C_ENST00000393276.3_Missense_Mutation_p.R838Q|DENND2C_ENST00000393277.1_Missense_Mutation_p.R783Q|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	895					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R838L(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGATGGCCCGGATCTCAAA	0.408																																																1	Substitution - Missense(1)	lung(1)	1											106	118	114					1																	115130079		2203	4300	6503	114931602	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2684G>A	1.37:g.115130079C>T	ENSP00000376955:p.Arg895Gln		114931602	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	36	5.644292	0.96704	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.11277	3.56;3.25;2.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	M	0.68593	2.085	0.33482	D	0.587544	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	T	0.01341	-1.1380	10	0.87932	D	0	.	17.7434	0.88413	0.0:1.0:0.0:0.0	.	895;838	Q68D51;Q68D51-3	DEN2C_HUMAN;.	Q	838;895;895;783	ENSP00000376957:R838Q;ENSP00000376955:R895Q;ENSP00000376958:R783Q	ENSP00000358553:R895Q	R	-	2	0	DENND2C	114931602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.252000	0.78309	2.619000	0.88677	0.650000	0.86243	CGG		0.408	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		T	115130079	C	T	115130079	3	4	397	1	0	0	0	0	1	0	0	0	4430	652	23	1	110	1	DENND2C	1	115130079	Missense_Mutation	SNP	C	TCGA-36-2551-01A-01D-1526-09	108863344	115130079	134120542	2	21706											
AMPD1	270	genome.wustl.edu	37	1	115220097	115220097	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:115220097A>T	ENST00000520113.2	-	10	1377	c.1362T>A	c.(1360-1362)caT>caA	p.H454Q	AMPD1_ENST00000353928.6_Missense_Mutation_p.H421Q|AMPD1_ENST00000369538.3_Missense_Mutation_p.H450Q			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	454					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGGGCTCAGCATGCTGGTACT	0.577																																																0			1											89	76	81					1																	115220097		2203	4300	6503	115021620	SO:0001583	missense	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1362T>A	1.37:g.115220097A>T	ENSP00000430075:p.His454Gln		115021620	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223131	0.58668	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82433	-1.61;-1.61;-1.61	5.85	-7.09	0.01553	Adenosine/AMP deaminase (1);	0.048033	0.85682	D	0.000000	T	0.72803	0.3506	L	0.58583	1.82	0.39382	D	0.966274	P;B	0.50369	0.934;0.205	P;B	0.48425	0.577;0.139	T	0.79829	-0.1638	10	0.30078	T	0.28	-25.2123	17.4035	0.87467	0.4388:0.0:0.5612:0.0	.	450;421	Q5TF02;P23109	.;AMPD1_HUMAN	Q	454;450;421	ENSP00000430075:H454Q;ENSP00000358551:H450Q;ENSP00000316520:H421Q	ENSP00000316520:H421Q	H	-	3	2	AMPD1	115021620	0.046000	0.20272	0.731000	0.30826	0.992000	0.81027	-0.587000	0.05780	-0.954000	0.03640	-0.366000	0.07423	CAT		0.577	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			T	115220097	A	T	115220097	3	4	397	1	0	0	0	0	1	0	0	0	585	214	8	5	1008	5	AMPD1	1	115220097	Missense_Mutation	SNP	A	TCGA-36-2551-01A-01D-1526-09	90018	115220097	134030524	3	21707											
RCOR3	55758	genome.wustl.edu	37	1	211469095	211469095	+	Splice_Site	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:211469095G>A	ENST00000367005.4	+	8	984	c.843G>A	c.(841-843)gaG>gaA	p.E281E	RCOR3_ENST00000452621.2_Splice_Site_p.E339E|RCOR3_ENST00000367006.4_Splice_Site_p.E339E|RCOR3_ENST00000419091.2_Splice_Site_p.E339E	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AACCTCCTGAGGTATGTTATT	0.343																																																0			1											97	95	96					1																	211469095		2203	4300	6503	209535718	SO:0001630	splice_region_variant	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.843+1G>A	1.37:g.211469095G>A			209535718	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	ENST00000367005.4	37	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358993	0.41801	.	.	ENSG00000117625	ENST00000534460	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	T	0.72236	0.3435	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70722	-0.4794	4	.	.	.	-16.0394	16.6993	0.85344	0.0:0.0:1.0:0.0	.	.	.	.	S	126	.	.	G	+	1	0	RCOR3	209535718	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.338000	0.96553	2.680000	0.91292	0.655000	0.94253	GGC		0.343	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254	Silent	A	211469095	G	A	211469095	5	1	397	1	0	0	0	0	0	0	1	0	13187	1014	35	2	1051	2	RCOR3	1	211469095	Splice_Site	SNP	G	TCGA-36-2551-01A-01D-1526-09	96248998	211469095	37781526	4	21708											
ENAH	55740	genome.wustl.edu	37	1	225695656	225695656	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:225695656G>T	ENST00000366844.3	-	11	1986	c.1535C>A	c.(1534-1536)tCc>tAc	p.S512Y	ENAH_ENST00000284563.6_Missense_Mutation_p.S759Y|ENAH_ENST00000366843.2_Missense_Mutation_p.S512Y	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	512	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTGATACCTGGAGATAACAGG	0.239																																																0			1											85	92	89					1																	225695656		2201	4295	6496	223762279	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1535C>A	1.37:g.225695656G>T	ENSP00000355809:p.Ser512Tyr		223762279	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589299	0.66105	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;D	0.87809	0.87;1.51;-2.3	5.11	5.11	0.69529	.	0.160438	0.42294	D	0.000733	D	0.86560	0.5962	N	0.08118	0	0.39152	D	0.962237	D;D	0.62365	0.991;0.967	D;P	0.65010	0.931;0.886	D	0.90756	0.4661	10	0.87932	D	0	.	18.5235	0.90962	0.0:0.0:1.0:0.0	.	512;512	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	Y	512;512;759;474	ENSP00000355809:S512Y;ENSP00000355808:S512Y;ENSP00000284563:S759Y	ENSP00000284563:S759Y	S	-	2	0	ENAH	223762279	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.311000	0.72835	2.355000	0.79922	0.467000	0.42956	TCC		0.239	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		T	225695656	G	T	225695656	3	4	397	1	0	0	0	0	1	0	0	0	5111	1174	41	3	260	3	ENAH	1	225695656	Missense_Mutation	SNP	G	TCGA-36-2551-01A-01D-1526-09	14226561	225695656	23554965	5	21709											
KCTD18	130535	genome.wustl.edu	37	2	201355033	201355033	+	Silent	SNP	C	C	T	rs569262259		TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr2:201355033C>T	ENST00000359878.3	-	7	1581	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Silent_p.T357T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	357					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGGTAAGTGCGTGCCTCCAT	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18119	0		0	False		,,,				2504	0															0			2											84	80	81					2																	201355033		2203	4300	6503	201063278	SO:0001819	synonymous_variant	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1071G>A	2.37:g.201355033C>T			201063278	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Silent	SNP	ENST00000359878.3	37	CCDS2330.1																																																																																				0.647	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		T	201355033	C	T	201355033	2	4	397	1	0	0	0	0	0	0	0	1	8105	755	27	1		1	KCTD18	2	201355033	Silent	SNP	C	TCGA-36-2551-01A-01D-1526-09		201355033	41844340	6	21710											
ZIC1	7545	genome.wustl.edu	37	3	147128703	147128703	+	Silent	SNP	T	T	C			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr3:147128703T>C	ENST00000282928.4	+	1	1533	c.804T>C	c.(802-804)aaT>aaC	p.N268N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	268					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCAGAGTAATCACATCTGCT	0.562																																																0			3											110	107	108					3																	147128703		2203	4300	6503	148611393	SO:0001819	synonymous_variant	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.804T>C	3.37:g.147128703T>C			148611393	Q2M3N1	Silent	SNP	ENST00000282928.4	37	CCDS3136.1																																																																																				0.562	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		C	147128703	T	C	147128703	2	2	397	1	0	0	0	0	0	0	0	1	17678	1432	50	4		4	ZIC1	3	147128703	Silent	SNP	T	TCGA-36-2551-01A-01D-1526-09		147128703	50893727	7	21711											
WWTR1	25937	genome.wustl.edu	37	3	149290738	149290738	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr3:149290738G>C	ENST00000465804.1	-	4	737	c.481C>G	c.(481-483)Cag>Gag	p.Q161E	WWTR1_ENST00000467467.1_Missense_Mutation_p.Q161E|WWTR1_ENST00000360632.3_Missense_Mutation_p.Q161E	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	161					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTCAGAGGCTGATTCATCGCC	0.443			T	CAMTA1	epitheliod hemangioendothelioma																																		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0			3											158	144	149					3																	149290738		2203	4300	6503	150773428	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.481C>G	3.37:g.149290738G>C	ENSP00000419465:p.Gln161Glu		150773428	D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362262	0.61403	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417;ENST00000479238	T;T;T;T	0.48201	0.82;0.82;0.82;0.83	5.55	5.55	0.83447	WW/Rsp5/WWP (1);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	L	0.51422	1.61	0.46131	D	0.998882	P	0.37708	0.606	B	0.28784	0.094	T	0.40515	-0.9559	10	0.02654	T	1	-3.9968	19.1095	0.93312	0.0:0.0:1.0:0.0	.	161	Q9GZV5	WWTR1_HUMAN	E	161;161;161;19;161	ENSP00000419465:Q161E;ENSP00000353847:Q161E;ENSP00000419234:Q161E;ENSP00000418580:Q161E	ENSP00000353847:Q161E	Q	-	1	0	WWTR1	150773428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.245000	0.65405	2.618000	0.88619	0.655000	0.94253	CAG		0.443	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		C	149290738	G	C	149290738	3	2	397	1	0	0	0	0	1	0	0	0	17417	1299	45	3	741	3	WWTR1	3	149290738	Missense_Mutation	SNP	G	TCGA-36-2551-01A-01D-1526-09	2162035	149290738	48731692	8	21712											
NLGN1	22871	genome.wustl.edu	37	3	173996816	173996816	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr3:173996816T>A	ENST00000457714.1	+	6	1454	c.1025T>A	c.(1024-1026)cTt>cAt	p.L342H	NLGN1_ENST00000545397.1_Missense_Mutation_p.L342H|NLGN1_ENST00000361589.4_Missense_Mutation_p.L342H|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.L382H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	359					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACAAAGAACTTGTTGACCAA	0.423																																																0			3											212	190	197					3																	173996816		2203	4300	6503	175479510	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1025T>A	3.37:g.173996816T>A	ENSP00000392500:p.Leu342His		175479510	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969725	0.74246	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94133	0.7390	10	0.87932	D	0	.	16.0817	0.81010	0.0:0.0:0.0:1.0	.	382;342	D2X2H5;Q8N2Q7-2	.;.	H	342;342;342;382	ENSP00000392500:L342H;ENSP00000354541:L342H;ENSP00000441108:L342H;ENSP00000385750:L382H	ENSP00000354541:L342H	L	+	2	0	NLGN1	175479510	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.206000	0.71126	0.383000	0.25322	CTT		0.423	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		A	173996816	T	A	173996816	3	1	397	1	0	0	0	0	1	0	0	0	10461	1609	56	5	1039	5	NLGN1	3	173996816	Missense_Mutation	SNP	T	TCGA-36-2551-01A-01D-1526-09	24706078	173996816	24025614	9	21713											
GAK	2580	genome.wustl.edu	37	4	907421	907421	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr4:907421C>G	ENST00000314167.4	-	2	291	c.181G>C	c.(181-183)Ggg>Cgg	p.G61R	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCCACTCCCCACATCTTGA	0.378																																																0			4											148	134	139					4																	907421		2203	4300	6503	897421	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.181G>C	4.37:g.907421C>G	ENSP00000314499:p.Gly61Arg		897421	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992707	0.54041	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000502656	D;D	0.83914	-1.78;-1.78	4.48	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053907	0.64402	D	0.000001	T	0.76054	0.3934	N	0.02802	-0.49	0.58432	D	0.999999	D	0.67145	0.996	P	0.60886	0.88	T	0.77008	-0.2747	10	0.22706	T	0.39	-15.2133	15.0112	0.71552	0.0:1.0:0.0:0.0	.	61	O14976	GAK_HUMAN	R	61	ENSP00000314499:G61R;ENSP00000424701:G61R	ENSP00000314499:G61R	G	-	1	0	GAK	897421	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.902000	0.63266	2.202000	0.70862	0.436000	0.28706	GGG		0.378	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		G	907421	C	G	907421	3	3	397	1	0	0	0	0	1	0	0	0	6195	623	22	3	3862	3	GAK	4	907421	Missense_Mutation	SNP	C	TCGA-36-2551-01A-01D-1526-09		907421	190246855	10	21714											
NAF1	92345	genome.wustl.edu	37	4	164061530	164061530	+	Silent	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr4:164061530G>A	ENST00000274054.2	-	5	916	c.723C>T	c.(721-723)ttC>ttT	p.F241F	NAF1_ENST00000422287.2_Silent_p.F241F|NAF1_ENST00000509434.1_5'Flank	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	241					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CAAATATCTCGAATATCTGTA	0.303																																																0			4											71	78	75					4																	164061530		2203	4292	6495	164280980	SO:0001819	synonymous_variant	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.723C>T	4.37:g.164061530G>A			164280980	D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	CCDS3803.1																																																																																				0.303	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		A	164061530	G	A	164061530	2	1	397	1	0	0	0	0	0	0	0	1	10140	1049	37	1		1	NAF1	4	164061530	Silent	SNP	G	TCGA-36-2551-01A-01D-1526-09	163154109	164061530	27092746	11	21715											
PCDHA3	56145	genome.wustl.edu	37	5	140181289	140181289	+	Silent	SNP	T	T	G	rs575847479		TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr5:140181289T>G	ENST00000522353.2	+	1	507	c.507T>G	c.(505-507)acT>acG	p.T169T	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T169T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGTTGACTTACAGTCTTG	0.393																																																0			5											75	80	78					5																	140181289		2203	4300	6503	140161473	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.507T>G	5.37:g.140181289T>G			140161473	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																				0.393	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		G	140181289	T	G	140181289	2	3	397	1	0	0	0	0	0	0	0	1	11525	1596	56	5		5	PCDHA3	5	140181289	Silent	SNP	T	TCGA-36-2551-01A-01D-1526-09		140181289	40733971	12	21716											
GNL1	2794	genome.wustl.edu	37	6	30513986	30513986	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr6:30513986A>G	ENST00000376621.3	-	12	2657	c.1687T>C	c.(1687-1689)Tcc>Ccc	p.S563P		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	563	Asp/Glu-rich (highly acidic).				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						tcctcacaggagctgctcagc	0.657																																																0			6											75	52	59					6																	30513986		2196	4295	6491	30621965	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1687T>C	6.37:g.30513986A>G	ENSP00000365806:p.Ser563Pro		30621965	B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080057	0.76528	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.47528	0.84	5.11	5.11	0.69529	.	0.300594	0.28176	N	0.016318	T	0.42291	0.1196	N	0.24115	0.695	0.47905	D	0.999541	D;D;D	0.65815	0.995;0.984;0.995	D;D;D	0.70487	0.969;0.969;0.969	T	0.36286	-0.9754	10	0.33141	T	0.24	-24.1059	14.0121	0.64503	1.0:0.0:0.0:0.0	.	561;360;563	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	P	563;385;360	ENSP00000365806:S563P	ENSP00000365806:S563P	S	-	1	0	GNL1	30621965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.345000	0.59360	2.148000	0.66965	0.459000	0.35465	TCC		0.657	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			G	30513986	A	G	30513986	3	3	397	1	0	0	0	0	1	0	0	0	6535	304	11	4	140	4	GNL1	6	30513986	Missense_Mutation	SNP	A	TCGA-36-2551-01A-01D-1526-09		30513986	140601081	13	21717											
ST18	9705	genome.wustl.edu	37	8	53028906	53028906	+	Silent	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr8:53028906G>A	ENST00000276480.7	-	25	3615	c.2932C>T	c.(2932-2934)Ctg>Ttg	p.L978L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	978					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTTCAGCAGACTTTCATTG	0.438																																																0			8											239	171	194					8																	53028906		2203	4300	6503	53191459	SO:0001819	synonymous_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2932C>T	8.37:g.53028906G>A			53191459	Q17RY1	Silent	SNP	ENST00000276480.7	37	CCDS6149.1																																																																																				0.438	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			A	53028906	G	A	53028906	2	1	397	1	0	0	0	0	0	0	0	1	15214	933	33	2		2	ST18	8	53028906	Silent	SNP	G	TCGA-36-2551-01A-01D-1526-09		53028906	93335116	14	21718											
DLG5	9231	genome.wustl.edu	37	10	79576407	79576407	+	Silent	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr10:79576407G>A	ENST00000372391.2	-	20	3932	c.3927C>T	c.(3925-3927)atC>atT	p.I1309I	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.I969I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1309					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACAGGGTGTCGATGTTCAGGG	0.582																																																0			10											195	166	176					10																	79576407		2203	4300	6503	79246413	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3927C>T	10.37:g.79576407G>A			79246413	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																				0.582	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			A	79576407	G	A	79576407	2	1	397	1	0	0	0	0	0	0	0	1	4558	1048	37	1		1	DLG5	10	79576407	Silent	SNP	G	TCGA-36-2551-01A-01D-1526-09		79576407	55958340	15	21719											
ZMIZ1	57178	genome.wustl.edu	37	10	81070809	81070809	+	Silent	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr10:81070809G>A	ENST00000334512.5	+	24	3536	c.2964G>A	c.(2962-2964)caG>caA	p.Q988Q	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	988	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTCCTTCCCAGCCTCCCCGGC	0.647																																																0			10											76	87	83					10																	81070809		2203	4300	6503	80740815	SO:0001819	synonymous_variant	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2964G>A	10.37:g.81070809G>A			80740815	Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	CCDS7357.1																																																																																				0.647	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		A	81070809	G	A	81070809	2	1	397	1	0	0	0	0	0	0	0	1	17696	962	34	2		2	ZMIZ1	10	81070809	Silent	SNP	G	TCGA-36-2551-01A-01D-1526-09	1494402	81070809	54463938	16	21720											
VPS37C	55048	genome.wustl.edu	37	11	60899428	60899428	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr11:60899428T>C	ENST00000301765.5	-	5	1164	c.932A>G	c.(931-933)tAc>tGc	p.Y311C		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	311	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CTGTATTGGGTAGGGAGGTTT	0.672																																																0			11											38	36	37					11																	60899428		2033	3970	6003	60656004	SO:0001583	missense	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.932A>G	11.37:g.60899428T>C	ENSP00000301765:p.Tyr311Cys		60656004	Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044376	0.55110	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.54279	0.58	4.66	4.66	0.58398	.	0.233333	0.37219	N	0.002181	T	0.59445	0.2194	L	0.29908	0.895	0.38304	D	0.943061	D	0.89917	1.0	D	0.83275	0.996	T	0.62737	-0.6791	10	0.40728	T	0.16	-9.7874	12.6711	0.56868	0.0:0.0:0.0:1.0	.	311	A5D8V6	VP37C_HUMAN	C	311	ENSP00000301765:Y311C	ENSP00000301765:Y311C	Y	-	2	0	VPS37C	60656004	1.000000	0.71417	0.992000	0.48379	0.538000	0.34931	5.311000	0.65786	1.731000	0.51592	0.260000	0.18958	TAC		0.672	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		C	60899428	T	C	60899428	3	2	397	1	0	0	0	0	1	0	0	0	17207	1638	57	4	139	4	VPS37C	11	60899428	Missense_Mutation	SNP	T	TCGA-36-2551-01A-01D-1526-09		60899428	74107088	17	21721											
C12orf60	144608	genome.wustl.edu	37	12	14976320	14976320	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr12:14976320C>G	ENST00000330828.2	+	2	655	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	151										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CATCATGAATCTTCAATTAAG	0.428																																																0			12											83	83	83					12																	14976320		2203	4300	6503	14867587	SO:0001583	missense	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.451C>G	12.37:g.14976320C>G	ENSP00000331691:p.Leu151Val		14867587	A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545784	0.65198	.	.	ENSG00000182993	ENST00000330828	T	0.19250	2.16	4.36	4.36	0.52297	.	0.000000	0.38605	N	0.001623	T	0.34716	0.0907	L	0.36672	1.1	0.33689	D	0.61305	D	0.89917	1.0	D	0.91635	0.999	T	0.44251	-0.9340	10	0.62326	D	0.03	-9.7844	12.6009	0.56497	0.0:1.0:0.0:0.0	.	151	Q5U649	CL060_HUMAN	V	151	ENSP00000331691:L151V	ENSP00000331691:L151V	L	+	1	0	C12orf60	14867587	0.979000	0.34478	1.000000	0.80357	0.967000	0.64934	3.306000	0.51881	2.427000	0.82271	0.561000	0.74099	CTT		0.428	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		G	14976320	C	G	14976320	3	3	397	1	0	0	0	0	1	0	0	0	1703	913	32	3	453	3	C12orf60	12	14976320	Missense_Mutation	SNP	C	TCGA-36-2551-01A-01D-1526-09		14976320	118875575	18	21722											
RBM25	58517	genome.wustl.edu	37	14	73554800	73554800	+	Silent	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr14:73554800C>T	ENST00000261973.7	+	6	759	c.474C>T	c.(472-474)ctC>ctT	p.L158L	RBM25_ENST00000525321.1_Silent_p.L158L|RBM25_ENST00000540173.1_Silent_p.L158L|RBM25_ENST00000526754.1_Silent_p.L158L|RBM25_ENST00000527432.1_Silent_p.L158L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	158	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAAAGCTACTCGTTAAAGTTG	0.423																																																0			14											157	155	155					14																	73554800		2203	4300	6503	72624553	SO:0001819	synonymous_variant	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.474C>T	14.37:g.73554800C>T			72624553	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	CCDS32113.1																																																																																				0.423	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		T	73554800	C	T	73554800	2	4	397	1	0	0	0	0	0	0	0	1	13128	871	31	1		1	RBM25	14	73554800	Silent	SNP	C	TCGA-36-2551-01A-01D-1526-09		73554800	33794740	19	21723											
MRPL28	10573	genome.wustl.edu	37	16	418370	418370	+	Silent	SNP	C	C	T	rs113936863	byFrequency	TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr16:418370C>T	ENST00000199706.8	-	5	656	c.621G>A	c.(619-621)acG>acA	p.T207T	MRPL28_ENST00000389675.2_Silent_p.T207T|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	207					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CCTCCTCCAGCGTGAGGCCCA	0.627																																																0			16						C		1,4405	2.1+/-5.4	0,1,2202	90	83	85		621	-6.2	0.4	16	dbSNP_132	85	0,8600		0,0,4300	no	coding-synonymous	MRPL28	NM_006428.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		207/257	418370	1,13005	2203	4300	6503	358371	SO:0001819	synonymous_variant	10573			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.621G>A	16.37:g.418370C>T			358371	B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Silent	SNP	ENST00000199706.8	37	CCDS32349.1																																																																																				0.627	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2			T	418370	C	T	418370	2	4	397	1	0	0	0	0	0	0	0	1	9792	755	27	1		1	MRPL28	16	418370	Silent	SNP	C	TCGA-36-2551-01A-01D-1526-09		418370	89936383	20	21724											
ZNF646	9726	genome.wustl.edu	37	16	31089129	31089129	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr16:31089129C>T	ENST00000394979.2	+	1	1907	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	ZNF646_ENST00000300850.5_Missense_Mutation_p.S495L			O15015	ZN646_HUMAN	zinc finger protein 646	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TACCAGTGCTCACTCTGTCCC	0.617																																																0			16											74	69	71					16																	31089129		2197	4300	6497	30996630	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1484C>T	16.37:g.31089129C>T	ENSP00000378429:p.Ser495Leu		30996630	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.002983	0.74932	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.30714	1.52;1.52	5.63	5.63	0.86233	.	.	.	.	.	T	0.50188	0.1601	L	0.41961	1.31	0.51012	D	0.999905	D	0.89917	1.0	D	0.91635	0.999	T	0.44034	-0.9354	9	0.56958	D	0.05	-7.8893	18.4362	0.90646	0.0:1.0:0.0:0.0	.	495	O15015-2	.	L	495	ENSP00000300850:S495L;ENSP00000378429:S495L	ENSP00000300850:S495L	S	+	2	0	ZNF646	30996630	0.649000	0.27322	0.531000	0.27976	0.604000	0.37047	2.987000	0.49378	2.651000	0.90000	0.655000	0.94253	TCA		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		T	31089129	C	T	31089129	3	4	397	1	0	0	0	0	1	0	0	0	18062	838	29	2	1486	2	ZNF646	16	31089129	Missense_Mutation	SNP	C	TCGA-36-2551-01A-01D-1526-09	30670759	31089129	59265624	21	21725											
SNX20	124460	genome.wustl.edu	37	16	50707906	50707906	+	Missense_Mutation	SNP	G	G	A	rs376792548		TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr16:50707906G>A	ENST00000330943.4	-	4	533	c.362C>T	c.(361-363)gCg>gTg	p.A121V	RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570167.1_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	121	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTGGAGCTTCGCGAAGTCGGA	0.552																																																0			16											76	70	72					16																	50707906		2198	4300	6498	49265407	SO:0001583	missense	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.362C>T	16.37:g.50707906G>A	ENSP00000332062:p.Ala121Val		49265407	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480372	0.26598	.	.	ENSG00000167208	ENST00000330943	T	0.37752	1.18	5.53	4.44	0.53790	Phox homologous domain (5);	0.194498	0.46758	D	0.000277	T	0.15998	0.0385	N	0.08118	0	0.24902	N	0.992099	P	0.36535	0.557	B	0.25987	0.065	T	0.08371	-1.0725	10	0.27785	T	0.31	-23.0074	11.3423	0.49539	0.0:0.0:0.1596:0.8404	.	121	Q7Z614	SNX20_HUMAN	V	121	ENSP00000332062:A121V	ENSP00000332062:A121V	A	-	2	0	SNX20	49265407	0.995000	0.38212	0.714000	0.30535	0.128000	0.20619	2.509000	0.45459	0.945000	0.37605	-0.397000	0.06425	GCG		0.552	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		A	50707906	G	A	50707906	3	1	397	1	0	0	0	0	1	0	0	0	14895	1087	38	1	735	1	SNX20	16	50707906	Missense_Mutation	SNP	G	TCGA-36-2551-01A-01D-1526-09	19618777	50707906	39646847	22	21726											
TP53	7157	genome.wustl.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)	CACTCGGATAAGATGCTGAGG	0.552		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"	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)	17											97	87	90					17																	7578268		2203	4300	6503	7518993	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.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg		7518993	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	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	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	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578268	A	C	7578268	3	2	397	1	0	0	0	0	1	0	0	0	16381	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-36-2551-01A-01D-1526-09		7578268	73616942	23	21727											
SMAD2	4087	genome.wustl.edu	37	18	45394716	45394716	+	Silent	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr18:45394716C>T	ENST00000402690.2	-	5	1027	c.633G>A	c.(631-633)gaG>gaA	p.E211E	SMAD2_ENST00000591214.1_Silent_p.E181E|SMAD2_ENST00000262160.6_Silent_p.E211E|SMAD2_ENST00000586040.1_Silent_p.E181E|SMAD2_ENST00000356825.4_Silent_p.E181E|SMAD2_ENST00000587353.1_5'UTR	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	211					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TACTCTGTGGCTCAATTCCTG	0.388																																																0			18											114	111	112					18																	45394716		2203	4300	6503	43648714	SO:0001819	synonymous_variant	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.633G>A	18.37:g.45394716C>T			43648714		Silent	SNP	ENST00000402690.2	37	CCDS11934.1																																																																																				0.388	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		T	45394716	C	T	45394716	2	4	397	1	0	0	0	0	0	0	0	1	14761	796	28	2		2	SMAD2	18	45394716	Silent	SNP	C	TCGA-36-2551-01A-01D-1526-09		45394716	32682532	24	21728											
LONP1	9361	genome.wustl.edu	37	19	5711914	5711914	+	Silent	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:5711914C>T	ENST00000360614.3	-	4	895	c.738G>A	c.(736-738)gcG>gcA	p.A246A	LONP1_ENST00000540670.2_Silent_p.A50A|LONP1_ENST00000593119.1_Silent_p.A182A|LONP1_ENST00000590729.1_Silent_p.A132A|LONP1_ENST00000585374.1_Silent_p.A132A	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTCGTCCTCCGCCTCCTTCT	0.657																																																0			19											48	48	48					19																	5711914		2203	4300	6503	5662914	SO:0001819	synonymous_variant	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.738G>A	19.37:g.5711914C>T			5662914		Silent	SNP	ENST00000360614.3	37	CCDS12148.1																																																																																				0.657	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		T	5711914	C	T	5711914	2	4	397	1	0	0	0	0	0	0	0	1	8892	639	23	1		1	LONP1	19	5711914	Silent	SNP	C	TCGA-36-2551-01A-01D-1526-09		5711914	53417069	25	21729											
DNM2	1785	genome.wustl.edu	37	19	10939824	10939824	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:10939824G>A	ENST00000355667.6	+	19	2251	c.2171G>A	c.(2170-2172)cGc>cAc	p.R724H	DNM2_ENST00000389253.4_Missense_Mutation_p.R724H|DNM2_ENST00000359692.6_Missense_Mutation_p.R720H|DNM2_ENST00000314646.5_Missense_Mutation_p.R724H|DNM2_ENST00000408974.4_Missense_Mutation_p.R720H|DNM2_ENST00000585892.1_Missense_Mutation_p.R724H	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	724	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GACATGCTGCGCATGTACCAT	0.622			"F, N, Splice, Mis, O"		ETP ALL																																		Rec	yes		19	19p13.2	1785	dynamin 2		L	0			19											61	45	51					19																	10939824		2203	4300	6503	10800824	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2171G>A	19.37:g.10939824G>A	ENSP00000347890:p.Arg724His		10800824	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077477	0.36662	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	T;T;T	0.55930	0.49;0.49;0.49	5.06	2.93	0.34026	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.62154	1.92	0.54753	D	0.999988	B;B;B;B;B;B;D	0.89917	0.424;0.091;0.05;0.047;0.174;0.371;1.0	B;B;B;B;B;B;D	0.87578	0.125;0.067;0.209;0.117;0.067;0.168;0.998	T	0.65623	-0.6123	10	0.62326	D	0.03	.	10.1756	0.42937	0.1657:0.0:0.8343:0.0	.	318;724;453;720;720;724;724	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	H	720;720;724;724;724;331	ENSP00000386192:R720H;ENSP00000373905:R724H;ENSP00000313164:R724H	ENSP00000313164:R724H	R	+	2	0	DNM2	10800824	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	7.771000	0.85420	0.545000	0.28902	-0.373000	0.07131	CGC		0.622	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		A	10939824	G	A	10939824	3	1	397	1	0	0	0	0	1	0	0	0	4672	1087	38	1	2388	1	DNM2	19	10939824	Missense_Mutation	SNP	G	TCGA-36-2551-01A-01D-1526-09	5227910	10939824	48189159	26	21730											
CLIP3	25999	genome.wustl.edu	37	19	36509905	36509905	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:36509905T>A	ENST00000360535.4	-	9	1305	c.1078A>T	c.(1078-1080)Atc>Ttc	p.I360F	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.I360F	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	360					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCTTGGAGATCTTGGACACG	0.632																																																0			19											66	71	69					19																	36509905		2203	4300	6503	41201745	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1078A>T	19.37:g.36509905T>A	ENSP00000353732:p.Ile360Phe		41201745	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995019	0.74703	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.75938	-0.98	4.87	2.66	0.31614	Cytoskeleton-associated protein, Gly-rich domain (3);	0.116510	0.56097	D	0.000024	T	0.69160	0.3080	M	0.70842	2.15	0.58432	D	0.999993	B	0.33044	0.395	B	0.33521	0.165	T	0.68812	-0.5310	10	0.66056	D	0.02	-25.1611	6.6082	0.22737	0.0:0.2276:0.0:0.7724	.	360	Q96DZ5	CLIP3_HUMAN	F	360;242;336	ENSP00000353732:I360F	ENSP00000353732:I360F	I	-	1	0	CLIP3	41201745	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.060000	0.57477	0.919000	0.36945	0.528000	0.53228	ATC		0.632	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		A	36509905	T	A	36509905	3	1	397	1	0	0	0	0	1	0	0	0	3534	1435	50	5	589	5	CLIP3	19	36509905	Missense_Mutation	SNP	T	TCGA-36-2551-01A-01D-1526-09	25570081	36509905	22619078	27	21731											
XRCC1	7515	genome.wustl.edu	37	19	44065143	44065143	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:44065143C>T	ENST00000594374.1	-	2	198	c.199G>A	c.(199-201)Gga>Aga	p.G67R	XRCC1_ENST00000543982.1_Silent_p.V27V|XRCC1_ENST00000262887.5_Silent_p.V58V																							TCCCAATGTCCACACTGTGTA	0.572																																																0			19											278	199	226					19																	44065143		2203	4300	6503	48756983	SO:0001583	missense	7515																														ENST00000594374.1:c.199G>A	19.37:g.44065143C>T	ENSP00000472698:p.Gly67Arg		48756983		Silent	SNP	ENST00000594374.1	37																																																																																					0.572	L34079.2-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000463203.1			T	44065143	C	T	44065143	3	4	397	1	0	0	0	0	1	0	0	0	17452	581	21	2	1787	2	XRCC1	19	44065143	Missense_Mutation	SNP	C	TCGA-36-2551-01A-01D-1526-09	7555238	44065143	15063840	28	21732											
HSD17B14	51171	genome.wustl.edu	37	19	49316751	49316751	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:49316751C>G	ENST00000263278.4	-	8	867	c.601G>C	c.(601-603)Gac>Cac	p.D201H	HSD17B14_ENST00000599157.1_Missense_Mutation_p.D177H|BCAT2_ENST00000598162.1_5'Flank|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000402551.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000601496.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	201					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GCCCTAGGGTCTGGCATTAAG	0.597																																																0			19											74	57	63					19																	49316751		2203	4300	6503	54008563	SO:0001583	missense	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.601G>C	19.37:g.49316751C>G	ENSP00000263278:p.Asp201His		54008563	Q9UKU3	Missense_Mutation	SNP	ENST00000263278.4	37	CCDS12736.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327247	0.60743	.	.	ENSG00000087076	ENST00000263278	T	0.22743	1.94	4.54	2.27	0.28462	NAD(P)-binding domain (1);	0.175295	0.48286	D	0.000194	T	0.26340	0.0643	N	0.25245	0.725	0.45307	D	0.998306	D	0.89917	1.0	D	0.72982	0.979	T	0.02950	-1.1090	10	0.72032	D	0.01	.	7.0096	0.24855	0.0:0.563:0.3428:0.0943	.	201	Q9BPX1	DHB14_HUMAN	H	201	ENSP00000263278:D201H	ENSP00000263278:D201H	D	-	1	0	HSD17B14	54008563	0.755000	0.28372	0.707000	0.30419	0.122000	0.20287	1.204000	0.32296	0.558000	0.29135	0.462000	0.41574	GAC		0.597	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246		G	49316751	C	G	49316751	3	3	397	1	0	0	0	0	1	0	0	0	7383	913	32	3	219	3	HSD17B14	19	49316751	Missense_Mutation	SNP	C	TCGA-36-2551-01A-01D-1526-09	5251608	49316751	9812232	29	21733											
KCNJ4	3761	genome.wustl.edu	37	22	38823296	38823296	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr22:38823296G>A	ENST00000303592.3	-	2	1100	c.842C>T	c.(841-843)tCg>tTg	p.S281L	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	281					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AAAGTCCTCCGACTCCAGCTC	0.622																																																0			22											78	64	69					22																	38823296		2203	4300	6503	37153242	SO:0001583	missense	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.842C>T	22.37:g.38823296G>A	ENSP00000306497:p.Ser281Leu		37153242	Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199177	0.38806	.	.	ENSG00000168135	ENST00000303592	D	0.94138	-3.36	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.578206	0.17440	N	0.174150	D	0.89567	0.6752	L	0.34521	1.04	0.28481	N	0.914949	B	0.32425	0.371	B	0.33568	0.166	D	0.86106	0.1559	10	0.56958	D	0.05	.	13.7342	0.62807	0.0:0.2832:0.7167:0.0	.	281	P48050	IRK4_HUMAN	L	281	ENSP00000306497:S281L	ENSP00000306497:S281L	S	-	2	0	KCNJ4	37153242	0.997000	0.39634	0.984000	0.44739	0.977000	0.68977	2.741000	0.47426	2.472000	0.83506	0.555000	0.69702	TCG		0.622	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		A	38823296	G	A	38823296	3	1	397	1	0	0	0	0	1	0	0	0	8053	1059	37	1	499	1	KCNJ4	22	38823296	Missense_Mutation	SNP	G	TCGA-36-2551-01A-01D-1526-09		38823296	12481270	30	21734											
ZC3H7B	23264	genome.wustl.edu	37	22	41735127	41735127	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr22:41735127G>A	ENST00000352645.4	+	9	1005	c.748G>A	c.(748-750)Gac>Aac	p.D250N	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D250N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	266					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCCCAGCACCGACAGCCTGGA	0.662																																																0			22											98	84	88					22																	41735127		2203	4300	6503	40065073	SO:0001583	missense	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.748G>A	22.37:g.41735127G>A	ENSP00000345793:p.Asp250Asn		40065073	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048891	0.36181	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.11604	2.76;2.76	4.98	4.98	0.66077	.	0.185402	0.45867	D	0.000323	T	0.07143	0.0181	N	0.14661	0.345	0.31091	N	0.71081	B	0.28933	0.228	B	0.20184	0.028	T	0.09975	-1.0650	10	0.15066	T	0.55	-25.9826	18.2407	0.89967	0.0:0.0:1.0:0.0	.	250	Q9UGR2-2	.	N	250	ENSP00000345793:D250N;ENSP00000263243:D250N	ENSP00000263243:D250N	D	+	1	0	ZC3H7B	40065073	1.000000	0.71417	0.852000	0.33557	0.604000	0.37047	6.674000	0.74487	2.286000	0.76751	0.561000	0.74099	GAC		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		A	41735127	G	A	41735127	3	1	397	1	0	0	0	0	1	0	0	0	17573	1058	37	1	778	1	ZC3H7B	22	41735127	Missense_Mutation	SNP	G	TCGA-36-2551-01A-01D-1526-09	2911831	41735127	9569439	31	21735											
CHD5	26038	genome.wustl.edu	37	1	6191693	6191693	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:6191693T>A	ENST00000262450.3	-	21	3359	c.3260A>T	c.(3259-3261)aAt>aTt	p.N1087I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGGTACCATTGAATCTGTC	0.567																																																0			1											81	76	77					1																	6191693		2203	4300	6503	6114280	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3260A>T	1.37:g.6191693T>A	ENSP00000262450:p.Asn1087Ile		6114280	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437946	0.62955	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.78246	-1.16	5.09	5.09	0.68999	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	H	0.97023	3.925	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.94576	0.7775	10	0.87932	D	0	-19.5675	15.156	0.72743	0.0:0.0:0.0:1.0	.	1087	Q8TDI0	CHD5_HUMAN	I	1087;603;495;495	ENSP00000262450:N1087I	ENSP00000262450:N1087I	N	-	2	0	CHD5	6114280	1.000000	0.71417	0.957000	0.39632	0.219000	0.24729	7.917000	0.87498	2.045000	0.60652	0.459000	0.35465	AAT		0.567	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6191693	T	A	6191693	3	1	398	1	0	0	0	0	1	0	0	0	3328	1493	52	5	2688	5	CHD5	1	6191693	Missense_Mutation	SNP	T	TCGA-36-2552-01A-01D-1526-09		6191693	243058928	1	21736											
PODN	127435	genome.wustl.edu	37	1	53535708	53535708	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:53535708C>T	ENST00000312553.5	+	2	332	c.325C>T	c.(325-327)Cct>Tct	p.P109S	PODN_ENST00000395871.2_Missense_Mutation_p.P109S|PODN_ENST00000371500.3_Missense_Mutation_p.P90S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	61					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGAGCCCGGGCCTGGCCCAGC	0.677																																																0			1											27	31	30					1																	53535708		2203	4299	6502	53308296	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.325C>T	1.37:g.53535708C>T	ENSP00000308315:p.Pro109Ser		53308296	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634864	0.29068	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.59906	0.97;0.23;1.06	3.5	2.56	0.30785	.	0.263724	0.36591	N	0.002509	T	0.37571	0.1008	N	0.19112	0.55	0.09310	N	1	B;B;B	0.25609	0.038;0.13;0.13	B;B;B	0.21917	0.001;0.037;0.037	T	0.21484	-1.0244	10	0.35671	T	0.21	.	8.7622	0.34680	0.0:0.7672:0.2328:0.0	.	109;90;109	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	S	90;109;109	ENSP00000360555:P90S;ENSP00000379212:P109S;ENSP00000308315:P109S	ENSP00000308315:P109S	P	+	1	0	PODN	53308296	0.002000	0.14202	0.062000	0.19696	0.134000	0.20937	0.471000	0.22100	1.028000	0.39785	0.491000	0.48974	CCT		0.677	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		T	53535708	C	T	53535708	3	4	398	1	0	0	0	0	1	0	0	0	12178	739	26	2	331	2	PODN	1	53535708	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	47344015	53535708	195714913	2	21737											
TGFBR3	7049	genome.wustl.edu	37	1	92149315	92149315	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:92149315G>T	ENST00000525962.1	-	16	2598	c.2537C>A	c.(2536-2538)tCc>tAc	p.S846Y	TGFBR3_ENST00000370399.2_Missense_Mutation_p.S845Y|TGFBR3_ENST00000212355.4_Missense_Mutation_p.S846Y			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	846					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		gctgCTGCTGGAGCAAGGCGT	0.672																																																0			1											38	32	34					1																	92149315		2203	4299	6502	91921903	SO:0001583	missense	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2537C>A	1.37:g.92149315G>T	ENSP00000436127:p.Ser846Tyr		91921903	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332100	0.81801	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.63417	-0.04;-0.03;-0.04;-0.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.75895	0.3912	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.77164	-0.2688	10	0.87932	D	0	-21.6989	19.8863	0.96913	0.0:0.0:1.0:0.0	.	846;845;846	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	Y	846;845;846;845	ENSP00000212355:S846Y;ENSP00000359426:S845Y;ENSP00000436127:S846Y;ENSP00000432638:S845Y	ENSP00000212355:S846Y	S	-	2	0	TGFBR3	91921903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.421000	0.97455	2.706000	0.92434	0.561000	0.74099	TCC		0.672	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		T	92149315	G	T	92149315	3	4	398	1	0	0	0	0	1	0	0	0	15823	1174	41	3	22	3	TGFBR3	1	92149315	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	38613607	92149315	157101306	3	21738											
TGFBR3	7049	genome.wustl.edu	37	1	92182216	92182216	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:92182216C>G	ENST00000525962.1	-	10	1677	c.1616G>C	c.(1615-1617)gGt>gCt	p.G539A	TGFBR3_ENST00000370399.2_Missense_Mutation_p.G538A|TGFBR3_ENST00000212355.4_Missense_Mutation_p.G539A			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	539	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATCTTCATAACCATCTGGCCA	0.458																																																0			1											288	298	295					1																	92182216		2203	4300	6503	91954804	SO:0001583	missense	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1616G>C	1.37:g.92182216C>G	ENSP00000436127:p.Gly539Ala		91954804	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	6.942	0.543637	0.13250	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.33	4.31	0.51392	Zona pellucida sperm-binding protein (3);	0.252711	0.38605	N	0.001624	T	0.08313	0.0207	L	0.47716	1.5	0.43930	D	0.996583	B;B;B	0.19817	0.039;0.015;0.039	B;B;B	0.24269	0.052;0.015;0.052	T	0.25222	-1.0138	10	0.06236	T	0.91	-7.2479	3.4785	0.07594	0.0:0.6316:0.0:0.3683	.	539;538;539	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	A	539;538;539;538	ENSP00000212355:G539A;ENSP00000359426:G538A;ENSP00000436127:G539A;ENSP00000432638:G538A	ENSP00000212355:G539A	G	-	2	0	TGFBR3	91954804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.686000	0.54685	2.506000	0.84524	0.556000	0.70494	GGT		0.458	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		G	92182216	C	G	92182216	3	3	398	1	0	0	0	0	1	0	0	0	15823	507	18	3	967	3	TGFBR3	1	92182216	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	32901	92182216	157068405	4	21739											
PRPF38B	55119	genome.wustl.edu	37	1	109242315	109242315	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:109242315G>C	ENST00000370025.4	+	6	1583	c.1314G>C	c.(1312-1314)agG>agC	p.R438S	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R327S	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	438	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		acagaagtaggagtcgaagta	0.358																																																0			1											68	66	67					1																	109242315		2202	4299	6501	109043838	SO:0001583	missense	55119			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1314G>C	1.37:g.109242315G>C	ENSP00000359042:p.Arg438Ser		109043838	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	6.988	0.552334	0.13374	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.29142	1.58;2.65	5.56	2.32	0.28847	.	0.086500	0.49916	D	0.000126	T	0.05914	0.0154	N	0.14661	0.345	0.30130	N	0.804848	B	0.12013	0.005	B	0.08055	0.003	T	0.34601	-0.9822	10	0.27082	T	0.32	.	9.2278	0.37418	0.3514:0.0:0.6486:0.0	.	438	Q5VTL8	PR38B_HUMAN	S	438;327	ENSP00000359042:R438S;ENSP00000359038:R327S	ENSP00000359038:R327S	R	+	3	2	PRPF38B	109043838	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.625000	0.24477	0.734000	0.32515	-0.339000	0.08088	AGG		0.358	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		C	109242315	G	C	109242315	3	2	398	1	0	0	0	0	1	0	0	0	12571	1165	41	3	1336	3	PRPF38B	1	109242315	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	17060099	109242315	140008306	5	21740											
TRAF5	7188	genome.wustl.edu	37	1	211545789	211545789	+	Silent	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:211545789G>T	ENST00000261464.5	+	11	1473	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	TRAF5_ENST00000427925.2_Silent_p.L367L|TRAF5_ENST00000336184.2_Silent_p.L473L|TRAF5_ENST00000367004.3_Silent_p.L473L	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	473	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTGACTCACTGTTGCAGTGGC	0.532																																																0			1											107	96	100					1																	211545789		2203	4300	6503	209612412	SO:0001819	synonymous_variant	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1419G>T	1.37:g.211545789G>T			209612412	B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	ENST00000261464.5	37	CCDS1497.1																																																																																				0.532	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		T	211545789	G	T	211545789	2	4	398	1	0	0	0	0	0	0	0	1	16444	1364	48	3		3	TRAF5	1	211545789	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09	102303474	211545789	37704832	6	21741											
LGALS8	3964	genome.wustl.edu	37	1	236708109	236708109	+	Missense_Mutation	SNP	G	G	A	rs369820574		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:236708109G>A	ENST00000366584.4	+	9	1264	c.698G>A	c.(697-699)cGc>cAc	p.R233H	LGALS8_ENST00000525042.1_Missense_Mutation_p.R216H|LGALS8_ENST00000526634.1_Missense_Mutation_p.R233H|LGALS8_ENST00000352231.2_Missense_Mutation_p.R275H|LGALS8_ENST00000526589.1_Missense_Mutation_p.R275H|LGALS8_ENST00000450372.2_Missense_Mutation_p.R275H|LGALS8_ENST00000416919.2_Missense_Mutation_p.R216H|LGALS8_ENST00000323938.6_Missense_Mutation_p.R206H|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000341872.6_Missense_Mutation_p.R233H|LGALS8_ENST00000527974.1_Missense_Mutation_p.R275H	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	233	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGAACCCACGCCTGAATATT	0.353																																																0			1						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	91	95	93		824,698,698,824	4.4	1	1		93	0,8600		0,0,4300	no	missense,missense,missense,missense	LGALS8	NM_006499.4,NM_201543.2,NM_201544.2,NM_201545.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	275/360,233/318,233/318,275/360	236708109	1,13005	2203	4300	6503	234774732	SO:0001583	missense	3964			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.698G>A	1.37:g.236708109G>A	ENSP00000355543:p.Arg233His		234774732	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846768	0.91277	2.27E-4	0.0	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000238181;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.35	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.86178	2.8	0.80722	D	1	D;P;D	0.64830	0.994;0.905;0.994	P;P;P	0.52554	0.702;0.54;0.702	T	0.56214	-0.8016	10	0.87932	D	0	-13.7362	15.9044	0.79412	0.0:0.0:0.8638:0.1362	.	216;233;275	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	H	275;275;275;233;275;233;174;274;216;206;233;216	ENSP00000431398:R275H;ENSP00000309576:R275H;ENSP00000435460:R275H;ENSP00000342139:R233H;ENSP00000408657:R275H;ENSP00000355543:R233H;ENSP00000238181:R174H;ENSP00000410843:R216H;ENSP00000434860:R206H;ENSP00000437040:R233H;ENSP00000431884:R216H	ENSP00000238181:R174H	R	+	2	0	LGALS8	234774732	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.088000	0.76901	1.610000	0.50200	0.655000	0.94253	CGC		0.353	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		A	236708109	G	A	236708109	3	1	398	1	0	0	0	0	1	0	0	0	8747	1087	38	1	858	1	LGALS8	1	236708109	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	25162320	236708109	12542512	7	21742											
SH3BP5L	80851	genome.wustl.edu	37	1	249119035	249119035	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:249119035C>T	ENST00000366472.5	-	2	1329	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	SH3BP5L_ENST00000475978.1_5'UTR|MIR3124_ENST00000582636.1_RNA	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	34										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAGGCTCTTCTGCGACTGGG	0.587																																																0			1											155	156	156					1																	249119035		2203	4300	6503	247085658	SO:0001583	missense	80851			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.100G>A	1.37:g.249119035C>T	ENSP00000355428:p.Glu34Lys		247085658	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295227	0.40594	.	.	ENSG00000175137	ENST00000366472	.	.	.	4.19	4.19	0.49359	.	0.314687	0.28724	N	0.014351	T	0.52980	0.1768	N	0.24115	0.695	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.45011	-0.9290	9	0.26408	T	0.33	-28.6909	12.227	0.54465	0.0:1.0:0.0:0.0	.	34	Q7L8J4	3BP5L_HUMAN	K	34	.	ENSP00000355428:E34K	E	-	1	0	SH3BP5L	247085658	0.988000	0.35896	0.934000	0.37439	0.706000	0.40770	3.173000	0.50839	2.324000	0.78689	0.655000	0.94253	GAA		0.587	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		T	249119035	C	T	249119035	3	4	398	1	0	0	0	0	1	0	0	0	14251	922	32	2	1105	2	SH3BP5L	1	249119035	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	12410926	249119035	131586	8	21743											
ZNF638	27332	genome.wustl.edu	37	2	71654514	71654514	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr2:71654514C>A	ENST00000409544.1	+	24	6145	c.5515C>A	c.(5515-5517)Cta>Ata	p.L1839I	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.L1839I|ZNF638_ENST00000409407.1_Missense_Mutation_p.L779I	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1839					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGAAGAAGATCTAAAAACCAT	0.338																																																0			2											49	50	50					2																	71654514		2202	4298	6500	71508022	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5515C>A	2.37:g.71654514C>A	ENSP00000386433:p.Leu1839Ile		71508022	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	8.242	0.807064	0.16467	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.32023	1.47;1.47;1.87	5.18	1.34	0.21922	.	0.676716	0.13247	N	0.402391	T	0.19446	0.0467	L	0.27053	0.805	0.80722	D	1	P;P	0.38167	0.621;0.534	B;B	0.41271	0.352;0.202	T	0.09975	-1.0650	10	0.21540	T	0.41	-0.0147	4.0089	0.09613	0.1626:0.5739:0.0:0.2636	.	1839;1839	Q14966-3;Q14966	.;ZN638_HUMAN	I	1839;1839;779	ENSP00000264447:L1839I;ENSP00000386433:L1839I;ENSP00000386813:L779I	ENSP00000264447:L1839I	L	+	1	2	ZNF638	71508022	0.942000	0.31987	0.997000	0.53966	0.592000	0.36648	-0.143000	0.10296	0.057000	0.16193	-0.137000	0.14449	CTA		0.338	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		A	71654514	C	A	71654514	3	1	398	1	0	0	0	0	1	0	0	0	18055	912	32	3	5605	3	ZNF638	2	71654514	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09		71654514	171544859	9	21744											
LOXL3	84695	genome.wustl.edu	37	2	74764017	74764017	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr2:74764017T>C	ENST00000264094.3	-	5	802	c.731A>G	c.(730-732)cAt>cGt	p.H244R	LOXL3_ENST00000409549.1_Missense_Mutation_p.H244R|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.H244R|LOXL3_ENST00000409986.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	244	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CGCCACCCCATGCAGACCAAA	0.632																																																0			2											35	38	37					2																	74764017		2203	4300	6503	74617525	SO:0001583	missense	84695			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.731A>G	2.37:g.74764017T>C	ENSP00000264094:p.His244Arg		74617525	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.856279	0.51376	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000409549;ENST00000413469	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.5	3.29	0.37713	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.056875	0.64402	D	0.000001	T	0.44603	0.1301	M	0.67953	2.075	0.80722	D	1	D;B	0.58620	0.983;0.0	P;B	0.53861	0.736;0.003	T	0.32771	-0.9894	10	0.45353	T	0.12	.	7.1389	0.25543	0.3628:0.0:0.0:0.6372	.	244;244	E7END4;P58215	.;LOXL3_HUMAN	R	244	ENSP00000264094:H244R;ENSP00000387103:H244R;ENSP00000386696:H244R;ENSP00000398260:H244R	ENSP00000264094:H244R	H	-	2	0	LOXL3	74617525	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.084000	0.50143	0.818000	0.34468	0.383000	0.25322	CAT		0.632	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		C	74764017	T	C	74764017	3	2	398	1	0	0	0	0	1	0	0	0	8901	1464	51	4	1570	4	LOXL3	2	74764017	Missense_Mutation	SNP	T	TCGA-36-2552-01A-01D-1526-09	3109503	74764017	168435356	10	21745											
COL3A1	1281	genome.wustl.edu	37	2	189863012	189863012	+	Silent	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr2:189863012T>C	ENST00000304636.3	+	28	2114	c.1944T>C	c.(1942-1944)ggT>ggC	p.G648G	COL3A1_ENST00000317840.5_Silent_p.G648G	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	648	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GTACAGGTGGTCCTCCAGGAG	0.363																																																0			2											63	66	65					2																	189863012		2203	4300	6503	189571257	SO:0001819	synonymous_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1944T>C	2.37:g.189863012T>C			189571257	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																				0.363	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		C	189863012	T	C	189863012	2	2	398	1	0	0	0	0	0	0	0	1	3688	1654	58	4		4	COL3A1	2	189863012	Silent	SNP	T	TCGA-36-2552-01A-01D-1526-09	115098995	189863012	53336361	11	21746											
MAP2	4133	genome.wustl.edu	37	2	210517907	210517907	+	Missense_Mutation	SNP	C	C	T	rs138782038		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr2:210517907C>T	ENST00000360351.4	+	4	519	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	MAP2_ENST00000199940.6_Missense_Mutation_p.R5W|MAP2_ENST00000392194.1_Missense_Mutation_p.R5W|MAP2_ENST00000361559.4_Missense_Mutation_p.R5W|MAP2_ENST00000447185.1_Missense_Mutation_p.R5W	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	5					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.R5W(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGCAGATGAACGGAAAGATGA	0.448																																					Pancreas(27;423 979 28787 29963)											1	Substitution - Missense(1)	large_intestine(1)	2						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	68	52	58		13,13,13,13	4.7	1	2	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	5/560,5/1828,5/472,5/503	210517907	1,13005	2203	4300	6503	210226152	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.13C>T	2.37:g.210517907C>T	ENSP00000353508:p.Arg5Trp		210226152	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522268	0.64747	0.0	1.16E-4	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.57	4.68	0.58851	.	0.000000	0.53938	D	0.000058	T	0.32526	0.0832	L	0.27053	0.805	0.44555	D	0.997519	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;P;D	0.83275	0.927;0.996;0.976;0.973;0.847;0.965	T	0.09465	-1.0673	10	0.72032	D	0.01	-7.9818	12.487	0.55879	0.42:0.58:0.0:0.0	.	5;5;6;5;5;5	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	W	5	ENSP00000199940:R5W;ENSP00000376031:R5W;ENSP00000353508:R5W;ENSP00000355290:R5W;ENSP00000409969:R5W;ENSP00000376032:R5W;ENSP00000392164:R5W	ENSP00000199940:R5W	R	+	1	2	MAP2	210226152	0.997000	0.39634	1.000000	0.80357	0.943000	0.58893	2.078000	0.41567	1.328000	0.45358	0.655000	0.94253	CGG		0.448	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		T	210517907	C	T	210517907	3	4	398	1	0	0	0	0	1	0	0	0	9235	527	19	1	15	1	MAP2	2	210517907	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	20654895	210517907	32681466	12	21747											
GOLGB1	2804	genome.wustl.edu	37	3	121412987	121412987	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr3:121412987A>C	ENST00000340645.5	-	13	6493	c.6368T>G	c.(6367-6369)cTt>cGt	p.L2123R	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L2128R	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2123					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTCGCTCAAGATCTTCATC	0.413																																																0			3											203	208	207					3																	121412987		2203	4300	6503	122895677	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6368T>G	3.37:g.121412987A>C	ENSP00000341848:p.Leu2123Arg		122895677	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.778001	0.31502	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17213	2.29;2.29	5.75	5.75	0.90469	.	0.445839	0.19362	N	0.116112	T	0.34135	0.0887	M	0.67953	2.075	0.39361	D	0.965928	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.77004	0.989;0.982;0.982;0.984	T	0.17776	-1.0358	10	0.16420	T	0.52	.	8.5395	0.33384	0.915:0.0:0.085:0.0	.	2048;2128;2128;2123	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	R	2123;2128	ENSP00000341848:L2123R;ENSP00000377275:L2128R	ENSP00000341848:L2123R	L	-	2	0	GOLGB1	122895677	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	4.125000	0.57931	2.194000	0.70268	0.533000	0.62120	CTT		0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		C	121412987	A	C	121412987	3	2	398	1	0	0	0	0	1	0	0	0	6565	72	3	5	3451	5	GOLGB1	3	121412987	Missense_Mutation	SNP	A	TCGA-36-2552-01A-01D-1526-09		121412987	76609443	13	21748											
TXNRD3IT1	645840	genome.wustl.edu	37	3	126291304	126291304	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr3:126291304C>A	ENST00000404489.2	-	1	175	c.83G>T	c.(82-84)cGa>cTa	p.R28L	TXNRD3NB_ENST00000383572.2_Missense_Mutation_p.R28L			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	28										endometrium(1)|large_intestine(2)|skin(2)	5						CACACTCAATCGTGCCCTCAC	0.602																																																0			3											48	47	48					3																	126291304		2203	4300	6503	127773994	SO:0001583	missense	645840			BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"thioredoxin reductase 3 new transcript 1"		"thioredoxin reductase 3 intronic transcript 1"	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.83G>T	3.37:g.126291304C>A	ENSP00000384071:p.Arg28Leu		127773994		Missense_Mutation	SNP	ENST00000404489.2	37	CCDS33846.1	.	.	.	.	.	.	.	.	.	.	C	3.430	-0.116379	0.06881	.	.	ENSG00000206483	ENST00000383572;ENST00000404489	.	.	.	0.661	0.661	0.17874	.	.	.	.	.	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	P	0.40032	0.699	B	0.30401	0.115	T	0.13899	-1.0492	7	0.87932	D	0	.	.	.	.	.	28	Q6F5E7	TR3N_HUMAN	L	28	.	ENSP00000373066:R28L	R	-	2	0	TXNRD3NB	127773994	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	-0.080000	0.11339	0.639000	0.30564	0.467000	0.42956	CGA		0.602	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783		A	126291304	C	A	126291304	3	1	398	1	0	0	0	0	1	0	0	0	16809	884	31	3	326	3	TXNRD3IT1	3	126291304	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	4878317	126291304	71731126	14	21749											
EIF4G1	1981	genome.wustl.edu	37	3	184039626	184039626	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr3:184039626C>T	ENST00000346169.2	+	10	1525	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	EIF4G1_ENST00000427845.1_Silent_p.V331V|EIF4G1_ENST00000424196.1_Silent_p.V425V|EIF4G1_ENST00000352767.3_Silent_p.V425V|EIF4G1_ENST00000342981.4_Silent_p.V418V|EIF4G1_ENST00000414031.1_Silent_p.V378V|EIF4G1_ENST00000319274.6_Silent_p.V418V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.V378V|EIF4G1_ENST00000392537.2_Silent_p.V331V|EIF4G1_ENST00000435046.2_Silent_p.V222V|EIF4G1_ENST00000350481.5_Silent_p.V254V|EIF4G1_ENST00000434061.2_Silent_p.V222V|EIF4G1_ENST00000441154.1_Silent_p.V254V|EIF4G1_ENST00000382330.3_Silent_p.V425V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	418					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAAGCCCAGTCAGTGAGCCAG	0.622																																																0			3											151	159	156					3																	184039626		2203	4300	6503	185522320	SO:0001819	synonymous_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1254C>T	3.37:g.184039626C>T			185522320	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.622	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		T	184039626	C	T	184039626	2	4	398	1	0	0	0	0	0	0	0	1	5036	813	29	2		2	EIF4G1	3	184039626	Silent	SNP	C	TCGA-36-2552-01A-01D-1526-09	57748322	184039626	13982804	15	21750											
ZNF721	170960	genome.wustl.edu	37	4	438000	438000	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:438000G>A	ENST00000338977.5	-	2	268	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R86C			Q8TF20	ZN721_HUMAN	zinc finger protein 721	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACTTTGACACGTGCATTACAT	0.313																																																0			4											63	69	67					4																	438000		2068	4252	6320	428000	SO:0001583	missense	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.220C>T	4.37:g.438000G>A	ENSP00000340524:p.Arg74Cys		428000	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	G	0.001	-2.899827	0.00058	.	.	ENSG00000182903	ENST00000338977;ENST00000511833;ENST00000505900	T;T;T	0.09163	3.41;3.4;3.01	0.436	-0.871	0.10642	.	.	.	.	.	T	0.01905	0.0060	N	0.00399	-1.545	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24764	-1.0151	9	0.02654	T	1	.	3.8041	0.08770	0.3927:0.2039:0.4034:0.0	.	74;86;86	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	C	74;86;118	ENSP00000340524:R74C;ENSP00000428878:R86C;ENSP00000421325:R118C	ENSP00000340524:R74C	R	-	1	0	ZNF721	428000	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.180000	0.16860	-3.324000	0.00187	-2.634000	0.00153	CGT		0.313	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		A	438000	G	A	438000	3	1	398	1	0	0	0	0	1	0	0	0	18122	1145	40	1	2519	1	ZNF721	4	438000	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09		438000	190716276	16	21751											
PCDH7	5099	genome.wustl.edu	37	4	30725361	30725361	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:30725361G>A	ENST00000361762.2	+	1	3325	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D773N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	773	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D773N(1)|p.D726N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGACAGTGATGATGGCATCAA	0.453																																																2	Substitution - Missense(2)	breast(2)	4											64	61	62					4																	30725361		2203	4300	6503	30334459	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2317G>A	4.37:g.30725361G>A	ENSP00000355243:p.Asp773Asn		30334459	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792631	0.31685	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.50277	0.75;0.75	5.16	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35364	0.0929	L	0.38649	1.16	0.36221	D	0.851967	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.40683	-0.9550	9	0.54805	T	0.06	.	7.2971	0.26399	0.218:0.0:0.782:0.0	.	773;726;773	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	N	773;773;726	ENSP00000355243:D773N;ENSP00000441802:D773N	ENSP00000330302:D726N	D	+	1	0	PCDH7	30334459	0.999000	0.42202	0.988000	0.46212	0.966000	0.64601	3.833000	0.55790	2.683000	0.91414	0.655000	0.94253	GAT		0.453	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		A	30725361	G	A	30725361	3	1	398	1	0	0	0	0	1	0	0	0	11516	1290	45	2	2319	2	PCDH7	4	30725361	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	30287361	30725361	160428915	17	21752											
KDR	3791	genome.wustl.edu	37	4	55963933	55963933	+	Splice_Site	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:55963933C>T	ENST00000263923.4	-	18	2805	c.2510G>A	c.(2509-2511)gGt>gAt	p.G837D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	837	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGAGGCTTACCTAGAGTCAA	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											91	82	85					4																	55963933		2203	4300	6503	55658690	SO:0001630	splice_region_variant	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2510-1G>A	4.37:g.55963933C>T			55658690	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987918	0.93106	.	.	ENSG00000128052	ENST00000263923	D	0.89617	-2.54	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93582	0.7951	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93545	0.6881	10	0.87932	D	0	.	20.1707	0.98158	0.0:1.0:0.0:0.0	.	837	P35968	VGFR2_HUMAN	D	837	ENSP00000263923:G837D	ENSP00000263923:G837D	G	-	2	0	KDR	55658690	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	GGT		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Missense_Mutation	T	55963933	C	T	55963933	5	4	398	1	0	0	0	0	0	0	1	0	8139	521	18	2	1612	2	KDR	4	55963933	Splice_Site	SNP	C	TCGA-36-2552-01A-01D-1526-09	25238572	55963933	135190343	18	21753											
UBA6	55236	genome.wustl.edu	37	4	68501269	68501269	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:68501269A>T	ENST00000322244.5	-	20	1803	c.1744T>A	c.(1744-1746)Tta>Ata	p.L582I		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	582					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGATTTGCTAAGCAACGACTA	0.363																																																0			4											93	87	89					4																	68501269		2203	4300	6503	68183864	SO:0001583	missense	55236			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1744T>A	4.37:g.68501269A>T	ENSP00000313454:p.Leu582Ile		68183864	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419551	0.42918	.	.	ENSG00000033178	ENST00000322244	T	0.45276	0.9	5.11	0.814	0.18756	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.194288	0.30695	N	0.009066	T	0.24928	0.0605	N	0.12663	0.25	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.06445	-1.0826	10	0.42905	T	0.14	-9.1824	13.9161	0.63899	0.3256:0.6744:0.0:0.0	.	582	A0AVT1	UBA6_HUMAN	I	582	ENSP00000313454:L582I	ENSP00000313454:L582I	L	-	1	2	UBA6	68183864	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	1.917000	0.39996	0.237000	0.21200	0.377000	0.23210	TTA		0.363	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		T	68501269	A	T	68501269	3	4	398	1	0	0	0	0	1	0	0	0	16832	69	3	5	1470	5	UBA6	4	68501269	Missense_Mutation	SNP	A	TCGA-36-2552-01A-01D-1526-09	12537336	68501269	122653007	19	21754											
PAQR3	152559	genome.wustl.edu	37	4	79860319	79860319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:79860319C>T	ENST00000512733.1	-	1	273	c.60G>A	c.(58-60)tgG>tgA	p.W20*	PAQR3_ENST00000380645.4_Nonsense_Mutation_p.W20*|PAQR3_ENST00000295462.3_Nonsense_Mutation_p.W20*	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	20					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCAGGACCGGCCAGTACTGGT	0.672																																																0			4											79	77	77					4																	79860319		2203	4300	6503	80079343	SO:0001587	stop_gained	152559			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.60G>A	4.37:g.79860319C>T	ENSP00000421981:p.Trp20*		80079343	A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Nonsense_Mutation	SNP	ENST00000512733.1	37	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289285	0.95517	.	.	ENSG00000163291	ENST00000295462;ENST00000512733;ENST00000380645	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3521	16.9952	0.86365	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000295462:W20X	W	-	3	0	PAQR3	80079343	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.288000	0.78691	2.296000	0.77279	0.563000	0.77884	TGG		0.672	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		T	79860319	C	T	79860319	4	4	398	1	0	0	0	0	0	1	0	0	11436	740	26	2	899	2	PAQR3	4	79860319	Nonsense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	11359050	79860319	111293957	20	21755											
RBM46	166863	genome.wustl.edu	37	4	155720135	155720135	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:155720135C>G	ENST00000281722.3	+	4	1056	c.821C>G	c.(820-822)gCt>gGt	p.A274G	RBM46_ENST00000514866.1_Missense_Mutation_p.A274G|RBM46_ENST00000510397.1_Missense_Mutation_p.A274G	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	274	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGAGATTATGCTTTTGTTCAC	0.358																																																0			4											105	94	98					4																	155720135		2203	4300	6503	155939585	SO:0001583	missense	166863			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.821C>G	4.37:g.155720135C>G	ENSP00000281722:p.Ala274Gly		155939585	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048487	0.75846	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.76839	-1.05;-1.05;-1.05	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.81451	0.4825	L	0.31578	0.945	0.80722	D	1	P;P;P	0.50819	0.551;0.939;0.715	B;P;P	0.59546	0.387;0.859;0.601	T	0.77222	-0.2667	10	0.31617	T	0.26	-20.2151	20.8794	0.99867	0.0:1.0:0.0:0.0	.	274;274;274	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	G	274	ENSP00000424500:A274G;ENSP00000281722:A274G;ENSP00000422813:A274G	ENSP00000281722:A274G	A	+	2	0	RBM46	155939585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.350000	0.59392	2.941000	0.99782	0.655000	0.94253	GCT		0.358	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		G	155720135	C	G	155720135	3	3	398	1	0	0	0	0	1	0	0	0	13143	797	28	3	831	3	RBM46	4	155720135	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	75859816	155720135	35434141	21	21756											
DNAH5	1767	genome.wustl.edu	37	5	13886208	13886208	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr5:13886208G>A	ENST00000265104.4	-	18	2712	c.2608C>T	c.(2608-2610)Cat>Tat	p.H870Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	870	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTAAAATGTAGTATTTGT	0.328									Kartagener syndrome																																							0			5											59	56	57					5																	13886208		2202	4297	6499	13939208	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2608C>T	5.37:g.13886208G>A	ENSP00000265104:p.His870Tyr		13939208	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463667	0.43736	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	5.79	2.82	0.32997	.	0.345597	0.33534	N	0.004816	T	0.20129	0.0484	L	0.54323	1.7	0.38106	D	0.937404	B	0.06786	0.001	B	0.09377	0.004	T	0.09707	-1.0662	10	0.16896	T	0.51	.	14.5769	0.68255	0.0:0.0:0.6:0.4	.	870	Q8TE73	DYH5_HUMAN	Y	870	ENSP00000265104:H870Y	ENSP00000265104:H870Y	H	-	1	0	DNAH5	13939208	0.999000	0.42202	0.988000	0.46212	0.964000	0.63967	2.743000	0.47442	0.753000	0.32945	-0.181000	0.13052	CAT		0.328	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13886208	G	A	13886208	3	1	398	1	0	0	0	0	1	0	0	0	4604	1377	48	2	11514	2	DNAH5	5	13886208	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09		13886208	167029052	22	21757											
NNT	23530	genome.wustl.edu	37	5	43613218	43613218	+	Silent	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr5:43613218G>T	ENST00000264663.5	+	3	581	c.360G>T	c.(358-360)ctG>ctT	p.L120L	NNT_ENST00000344920.4_Silent_p.L120L|NNT_ENST00000512996.2_5'UTR	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	120					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					AGGAAGTGCTGGCTTCTGATT	0.408																																																0			5											75	76	76					5																	43613218		2203	4300	6503	43648975	SO:0001819	synonymous_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.360G>T	5.37:g.43613218G>T			43648975	Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																				0.408	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		T	43613218	G	T	43613218	2	4	398	1	0	0	0	0	0	0	0	1	10510	1335	47	3		3	NNT	5	43613218	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09	29727010	43613218	137302042	23	21758											
HK3	3101	genome.wustl.edu	37	5	176316712	176316712	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr5:176316712C>T	ENST00000292432.5	-	7	755	c.664G>A	c.(664-666)Gac>Aac	p.D222N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	222	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCACTGTGTCGTTCACCACA	0.587																																																0			5											184	150	161					5																	176316712		2203	4300	6503	176249318	SO:0001583	missense	3101				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.664G>A	5.37:g.176316712C>T	ENSP00000292432:p.Asp222Asn		176249318	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147539	0.94603	.	.	ENSG00000160883	ENST00000292432	D	0.99695	-6.43	5.56	5.56	0.83823	Hexokinase, N-terminal (1);	0.000000	0.64402	D	0.000018	D	0.99684	0.9881	M	0.87758	2.905	0.40623	D	0.981785	D	0.89917	1.0	D	0.97110	1.0	D	0.97654	1.0156	10	0.87932	D	0	-30.0589	13.4652	0.61249	0.0:0.9238:0.0:0.0762	.	222	P52790	HXK3_HUMAN	N	222	ENSP00000292432:D222N	ENSP00000292432:D222N	D	-	1	0	HK3	176249318	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.490000	0.60319	2.624000	0.88883	0.462000	0.41574	GAC		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			T	176316712	C	T	176316712	3	4	398	1	0	0	0	0	1	0	0	0	7192	884	31	1	2159	1	HK3	5	176316712	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	132703494	176316712	4598548	24	21759											
ZNF322A	79692	genome.wustl.edu	37	6	26638633	26638633	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:26638633T>C	ENST00000415922.2	-	4	794	c.149A>G	c.(148-150)cAa>cGa	p.Q50R	ZNF322_ENST00000471278.1_Missense_Mutation_p.Q50R|ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACAGAAGTTTTGCTTGCATTC	0.353																																																0			6											310	270	284					6																	26638633		2202	4299	6501	26746612	SO:0001583	missense	79692			AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"Zinc fingers, C2H2-type"	23640	protein-coding gene	gene with protein product		610847	"zinc finger protein 489", "HLA complex group 12", "zinc finger protein 322A"	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.149A>G	6.37:g.26638633T>C	ENSP00000418897:p.Gln50Arg		26746612	A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	t	12.15	1.851928	0.32699	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.26957	1.7;1.7	4.35	1.88	0.25563	.	0.348945	0.21020	N	0.081539	T	0.02304	0.0071	N	0.01352	-0.895	0.27920	N	0.938285	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	10	0.59425	D	0.04	-11.6106	4.3207	0.11016	0.0:0.1051:0.2036:0.6913	.	50	Q6U7Q0	ZN322_HUMAN	R	50	ENSP00000418897:Q50R;ENSP00000419728:Q50R	ENSP00000418897:Q50R	Q	-	2	0	ZNF322	26746612	0.994000	0.37717	0.999000	0.59377	0.995000	0.86356	2.934000	0.48956	0.418000	0.25898	0.459000	0.35465	CAA		0.353	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		C	26638633	T	C	26638633	3	2	398	1	0	0	0	0	1	0	0	0	17841	1812	63	4	1063	4	ZNF322A	6	26638633	Missense_Mutation	SNP	T	TCGA-36-2552-01A-01D-1526-09		26638633	144476434	25	21760											
ZKSCAN4	387032	genome.wustl.edu	37	6	28214786	28214786	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:28214786C>A	ENST00000377294.2	-	4	982	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.D92Y	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	247	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGCTTTTCATCTCTGTAGAGG	0.453																																																0			6											143	130	135					6																	28214786		2203	4300	6503	28322765	SO:0001583	missense	387032			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.739G>T	6.37:g.28214786C>A	ENSP00000366509:p.Asp247Tyr		28322765	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586447	0.46110	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.28454	1.61;1.61	3.98	3.98	0.46160	Krueppel-associated box (4);	.	.	.	.	T	0.46833	0.1413	M	0.91972	3.26	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	T	0.45116	-0.9283	9	0.59425	D	0.04	.	6.1065	0.20077	0.0:0.7977:0.0:0.2023	.	247	Q969J2	ZKSC4_HUMAN	Y	247;92	ENSP00000366509:D247Y;ENSP00000401978:D92Y	ENSP00000366509:D247Y	D	-	1	0	ZKSCAN4	28322765	0.000000	0.05858	0.050000	0.19076	0.852000	0.48524	0.525000	0.22956	2.477000	0.83638	0.563000	0.77884	GAT		0.453	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		A	28214786	C	A	28214786	3	1	398	1	0	0	0	0	1	0	0	0	17689	913	32	3	906	3	ZKSCAN4	6	28214786	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	1576153	28214786	142900281	26	21761											
BAT2	7916	genome.wustl.edu	37	6	31604061	31604061	+	Silent	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:31604061G>A	ENST00000376033.2	+	26	5934	c.5700G>A	c.(5698-5700)caG>caA	p.Q1900Q	PRRC2A_ENST00000376007.4_Silent_p.Q1900Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1900						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCAAGGGCCAGTTTCTGGATT	0.547																																																0			6											91	117	108					6																	31604061		1510	2708	4218	31712040	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5700G>A	6.37:g.31604061G>A			31712040	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																				0.547	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		A	31604061	G	A	31604061	2	1	398	1	0	0	0	0	0	0	0	1	1319	1020	36	2		2	BAT2	6	31604061	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09	3389275	31604061	139511006	27	21762											
GPR110	266977	genome.wustl.edu	37	6	46988487	46988487	+	Silent	SNP	C	C	A	rs371309909		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:46988487C>A	ENST00000371253.2	-	7	806	c.591G>T	c.(589-591)tcG>tcT	p.S197S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Silent_p.S197S|GPR110_ENST00000283297.5_5'Flank	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	197	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGACCTGAACCGACTCAAAAC	0.398																																																0			6											112	104	106					6																	46988487		2203	4300	6503	47096446	SO:0001819	synonymous_variant	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.591G>T	6.37:g.46988487C>A			47096446	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	CCDS34471.1																																																																																				0.398	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		A	46988487	C	A	46988487	2	1	398	1	0	0	0	0	0	0	0	1	6627	639	23	3		3	GPR110	6	46988487	Silent	SNP	C	TCGA-36-2552-01A-01D-1526-09	15384426	46988487	124126580	28	21763											
DEFB110	245913	genome.wustl.edu	37	6	49986696	49986696	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:49986696C>T	ENST00000371148.2	-	2	243	c.198G>A	c.(196-198)caG>caA	p.Q66Q	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	66					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATCGTTACTGCTGCAAGCAGC	0.413																																																0			6											117	99	105					6																	49986696		2203	4299	6502	50094655	SO:0001819	synonymous_variant	245914			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.198G>A	6.37:g.49986696C>T			50094655	Q30KR0	Silent	SNP	ENST00000371148.2	37	CCDS34475.1																																																																																				0.413	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		T	49986696	C	T	49986696	2	4	398	1	0	0	0	0	0	0	0	1	4400	796	28	2		2	DEFB110	6	49986696	Silent	SNP	C	TCGA-36-2552-01A-01D-1526-09	2998209	49986696	121128371	29	21764											
SMAP1	60682	genome.wustl.edu	37	6	71464756	71464756	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:71464756C>G	ENST00000370455.3	+	3	574	c.326C>G	c.(325-327)cCa>cGa	p.P109R	SMAP1_ENST00000370452.3_Missense_Mutation_p.P109R|SMAP1_ENST00000422334.2_Missense_Mutation_p.P109R|SMAP1_ENST00000316999.5_Missense_Mutation_p.P109R	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	109	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TTTCGAAGACCACAGACAGAT	0.279																																																0			6											131	144	140					6																	71464756		2203	4295	6498	71521477	SO:0001583	missense	60682			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"ADP-ribosylation factor GTPase activating proteins"	19651	protein-coding gene	gene with protein product		611372	"stromal membrane-associated protein 1", "stromal membrane-associated GTPase-activating protein 1"			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.326C>G	6.37:g.71464756C>G	ENSP00000359484:p.Pro109Arg		71521477	Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465866	0.84425	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455;ENST00000370442;ENST00000422334	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84332	0.0522	10	0.87932	D	0	-10.1455	18.364	0.90384	0.0:1.0:0.0:0.0	.	109;109;109;109	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	R	109;109;109;21;109	ENSP00000359481:P109R;ENSP00000313382:P109R;ENSP00000359484:P109R;ENSP00000398541:P109R	ENSP00000313382:P109R	P	+	2	0	SMAP1	71521477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.134000	0.77268	2.638000	0.89438	0.644000	0.83932	CCA		0.279	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		G	71464756	C	G	71464756	3	3	398	1	0	0	0	0	1	0	0	0	14769	594	21	3	336	3	SMAP1	6	71464756	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	21478060	71464756	99650311	30	21765											
MYO6	4646	genome.wustl.edu	37	6	76572384	76572384	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:76572384G>T	ENST00000369977.3	+	16	1757	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	MYO6_ENST00000369985.4_Missense_Mutation_p.D540Y|RNA5SP209_ENST00000411237.1_RNA|MYO6_ENST00000369981.3_Missense_Mutation_p.D540Y|MYO6_ENST00000369975.1_Missense_Mutation_p.D540Y	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	540	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCAGCCAAGTGATCAACACTT	0.383																																																0			6											130	110	117					6																	76572384		2203	4300	6503	76629104	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1618G>T	6.37:g.76572384G>T	ENSP00000358994:p.Asp540Tyr		76629104	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851776	0.32699	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.9	5.9	0.94986	.	0.084904	0.85682	D	0.000000	D	0.94696	0.8289	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.983;0.999	D	0.91299	0.5065	10	0.16420	T	0.52	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	540;540	Q9UM54-2;Q9UM54-1	.;.	Y	540	ENSP00000358998:D540Y;ENSP00000359002:D540Y;ENSP00000358994:D540Y;ENSP00000358992:D540Y	ENSP00000358992:D540Y	D	+	1	0	MYO6	76629104	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.476000	0.97823	2.798000	0.96311	0.650000	0.86243	GAT		0.383	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		T	76572384	G	T	76572384	3	4	398	1	0	0	0	0	1	0	0	0	10081	1290	45	3	1676	3	MYO6	6	76572384	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	5107628	76572384	94542683	31	21766											
HBS1L	10767	genome.wustl.edu	37	6	135287503	135287503	+	Silent	SNP	G	G	A	rs567806855		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:135287503G>A	ENST00000367837.5	-	17	2213	c.2007C>T	c.(2005-2007)taC>taT	p.Y669Y	HBS1L_ENST00000367826.2_Silent_p.Y627Y|HBS1L_ENST00000445176.2_Silent_p.Y393Y|HBS1L_ENST00000527578.1_Silent_p.Y505Y|HBS1L_ENST00000415177.2_Silent_p.Y604Y|HBS1L_ENST00000367824.4_Silent_p.Y505Y	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	669					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.Y669Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TAGAACCACCGTAACGTAGCA	0.378																																																1	Substitution - coding silent(1)	lung(1)	6											151	140	144					6																	135287503		2203	4300	6503	135329196	SO:0001819	synonymous_variant	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.2007C>T	6.37:g.135287503G>A			135329196	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	37	CCDS5173.1																																																																																				0.378	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			A	135287503	G	A	135287503	2	1	398	1	0	0	0	0	0	0	0	1	6987	1140	40	1		1	HBS1L	6	135287503	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09	58715119	135287503	35827564	32	21767											
VSTM2A	222008	genome.wustl.edu	37	7	54612403	54612403	+	Silent	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr7:54612403G>A	ENST00000407838.3	+	2	574	c.168G>A	c.(166-168)tcG>tcA	p.S56S	VSTM2A_ENST00000402613.3_Silent_p.S56S|VSTM2A_ENST00000302287.3_Silent_p.S56S|VSTM2A_ENST00000404951.1_Silent_p.S56S|VSTM2A_ENST00000402026.2_Silent_p.S55S	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	56	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCTCCGCCTCGGTGTATCTGG	0.667																																																0			7											41	42	42					7																	54612403		2203	4299	6502	54579897	SO:0001819	synonymous_variant	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.168G>A	7.37:g.54612403G>A			54579897	A4D2E9|B5MC94	Silent	SNP	ENST00000407838.3	37	CCDS5512.2																																																																																				0.667	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		A	54612403	G	A	54612403	2	1	398	1	0	0	0	0	0	0	0	1	17229	1103	39	1		1	VSTM2A	7	54612403	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09		54612403	104526260	33	21768											
DUS4L	11062	genome.wustl.edu	37	7	107217967	107217967	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr7:107217967G>C	ENST00000265720.3	+	8	1278	c.916G>C	c.(916-918)Gca>Cca	p.A306P	RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000379117.2_5'Flank|DUS4L_ENST00000402620.1_Missense_Mutation_p.A185P|BCAP29_ENST00000445771.2_5'Flank|BCAP29_ENST00000465919.1_5'Flank|BCAP29_ENST00000005259.4_5'Flank	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	306							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						AAGCACATCAGCAATCATAGA	0.353																																																0			7											124	128	127					7																	107217967		2203	4300	6503	107005203	SO:0001583	missense	11062			U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.916G>C	7.37:g.107217967G>C	ENSP00000265720:p.Ala306Pro		107005203	B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962785	0.92791	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.24151	1.87;1.87	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.77406	2.37	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.71656	0.974;0.974	T	0.49041	-0.8980	10	0.42905	T	0.14	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	306;306	A4D0R5;O95620	.;DUS4L_HUMAN	P	306;185	ENSP00000265720:A306P;ENSP00000385274:A185P	ENSP00000265720:A306P	A	+	1	0	DUS4L	107005203	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.393000	0.79851	2.836000	0.97738	0.655000	0.94253	GCA		0.353	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		C	107217967	G	C	107217967	3	2	398	1	0	0	0	0	1	0	0	0	4808	971	34	3	938	3	DUS4L	7	107217967	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	52605564	107217967	51920696	34	21769											
NEFM	4741	genome.wustl.edu	37	8	24771918	24771918	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr8:24771918C>T	ENST00000221166.5	+	1	1394	c.612C>T	c.(610-612)cgC>cgT	p.R204R	NEFM_ENST00000518131.1_Silent_p.R204R|GS1-72M22.1_ENST00000607058.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Silent_p.R204R|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	204	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGCCATCCGCGCGCTGCGCA	0.647																																																0			8											41	36	38					8																	24771918		2202	4300	6502	24827823	SO:0001819	synonymous_variant	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.612C>T	8.37:g.24771918C>T			24827823	B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	CCDS6046.1																																																																																				0.647	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		T	24771918	C	T	24771918	2	4	398	1	0	0	0	0	0	0	0	1	10316	755	27	1		1	NEFM	8	24771918	Silent	SNP	C	TCGA-36-2552-01A-01D-1526-09		24771918	121592104	35	21770											
MOS	4342	genome.wustl.edu	37	8	57026336	57026336	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr8:57026336C>G	ENST00000311923.1	-	1	205	c.206G>C	c.(205-207)gGa>gCa	p.G69A		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCCAAACCCTCCAGCTCCCAG	0.637																																					Esophageal Squamous(124;373 2870 4778)											0			8											74	68	70					8																	57026336		2203	4300	6503	57188890	SO:0001583	missense	4342				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.206G>C	8.37:g.57026336C>G	ENSP00000310722:p.Gly69Ala		57188890	Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290168	0.80914	.	.	ENSG00000172680	ENST00000311923	D	0.96334	-3.98	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99632	1.0986	10	0.87932	D	0	.	18.6116	0.91286	0.0:1.0:0.0:0.0	.	69	P00540	MOS_HUMAN	A	69	ENSP00000310722:G69A	ENSP00000310722:G69A	G	-	2	0	MOS	57188890	1.000000	0.71417	0.156000	0.22583	0.760000	0.43138	7.697000	0.84279	2.387000	0.81309	0.557000	0.71058	GGA		0.637	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		G	57026336	C	G	57026336	3	3	398	1	0	0	0	0	1	0	0	0	9712	855	30	3	837	3	MOS	8	57026336	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	32254418	57026336	89337686	36	21771											
SCRIB	23513	genome.wustl.edu	37	8	144895096	144895096	+	Silent	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr8:144895096G>A	ENST00000320476.3	-	8	684	c.678C>T	c.(676-678)gaC>gaT	p.D226D	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Silent_p.D226D|SCRIB_ENST00000377533.3_Silent_p.D145D	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	226	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTTCCGACACGTCCAGGCACA	0.692																																					Pancreas(51;966 1133 10533 14576 29674)											0			8											33	33	33					8																	144895096		2200	4298	6498	144967084	SO:0001819	synonymous_variant	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.678C>T	8.37:g.144895096G>A			144967084	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1																																																																																				0.692	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		A	144895096	G	A	144895096	2	1	398	1	0	0	0	0	0	0	0	1	13940	1136	40	1		1	SCRIB	8	144895096	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09	87868760	144895096	1468926	37	21772											
TTC18	118491	genome.wustl.edu	37	10	75107962	75107962	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr10:75107962C>T	ENST00000310715.3	-	5	501	c.381G>A	c.(379-381)ttG>ttA	p.L127L	Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000401621.2_Silent_p.L127L|TTC18_ENST00000340329.3_Silent_p.L127L|TTC18_ENST00000394865.1_Silent_p.L127L	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		127						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCACAGGGTGCAATGGAACTG	0.428																																																0			10											116	105	109					10																	75107962		2203	4300	6503	74777968	SO:0001819	synonymous_variant	118491																														ENST00000310715.3:c.381G>A	10.37:g.75107962C>T			74777968	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	CCDS7324.3																																																																																				0.428	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	75107962	C	T	75107962	2	4	398	1	0	0	0	0	0	0	0	1	16685	709	25	2		2	TTC18	10	75107962	Silent	SNP	C	TCGA-36-2552-01A-01D-1526-09		75107962	60426785	38	21773											
SFXN4	119559	genome.wustl.edu	37	10	120920435	120920435	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr10:120920435C>A	ENST00000355697.2	-	5	345	c.326G>T	c.(325-327)cGa>cTa	p.R109L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.R100L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	109					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ACCTGCAGGTCGAAAAAGCTT	0.473																																																0			10											142	140	140					10																	120920435		2203	4300	6503	120910425	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.326G>T	10.37:g.120920435C>A	ENSP00000347924:p.Arg109Leu		120910425	Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019062	0.54576	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.57273	0.41;0.41	5.09	5.09	0.68999	.	0.088520	0.45606	D	0.000360	T	0.71358	0.3330	M	0.70275	2.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.74290	-0.3713	10	0.87932	D	0	-13.3606	15.3651	0.74516	0.0:1.0:0.0:0.0	.	109	Q6P4A7	SFXN4_HUMAN	L	109;100	ENSP00000347924:R109L;ENSP00000333200:R100L	ENSP00000333200:R100L	R	-	2	0	SFXN4	120910425	0.997000	0.39634	0.998000	0.56505	0.842000	0.47809	3.371000	0.52379	2.646000	0.89796	0.655000	0.94253	CGA		0.473	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		A	120920435	C	A	120920435	3	1	398	1	0	0	0	0	1	0	0	0	14200	884	31	3	727	3	SFXN4	10	120920435	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	45812473	120920435	14614312	39	21774											
TRIM5	85363	genome.wustl.edu	37	11	5701015	5701015	+	Silent	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:5701015T>C	ENST00000380034.3	-	2	649	c.393A>G	c.(391-393)acA>acG	p.T131T	TRIM5_ENST00000380027.1_Silent_p.T131T|TRIM5_ENST00000396855.3_Silent_p.T131T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000305836.5_Silent_p.T131T|TRIM5_ENST00000396847.3_Silent_p.T131T|TRIM5_ENST00000396853.4_Silent_p.T131T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	131					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CAACCTCCTCTGTGAGGAACG	0.507																																																0			11											121	106	111					11																	5701015		2201	4297	6498	5657591	SO:0001819	synonymous_variant	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.393A>G	11.37:g.5701015T>C			5657591	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	T	0.140	-1.103622	0.01828	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.07	-8.15	0.01065	.	.	.	.	.	T	0.44685	0.1305	.	.	.	0.44268	D	0.997129	.	.	.	.	.	.	T	0.49643	-0.8918	4	.	.	.	.	5.637	0.17542	0.4707:0.1857:0.0:0.3436	.	.	.	.	R	8	.	.	Q	-	2	0	TRIM5	5657591	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.041000	0.00157	-2.621000	0.00439	-2.352000	0.00242	CAG		0.507	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		C	5701015	T	C	5701015	2	2	398	1	0	0	0	0	0	0	0	1	16525	1567	55	4		4	TRIM5	11	5701015	Silent	SNP	T	TCGA-36-2552-01A-01D-1526-09		5701015	129305501	40	21775											
DCHS1	8642	genome.wustl.edu	37	11	6653811	6653811	+	Missense_Mutation	SNP	G	G	A	rs201160085		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:6653811G>A	ENST00000299441.3	-	6	3343	c.2932C>T	c.(2932-2934)Cgc>Tgc	p.R978C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	978	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTGGTGCGTGGTGGGGAG	0.667													G|||	1	0.000199681	0	0	5008	,	,		14142	0		0.001	False		,,,				2504	0															0			11						G	CYS/ARG	2,4364		0,2,2181	7	7	7		2932	4.6	1	11		7	5,8509		0,5,4252	yes	missense	DCHS1	NM_003737.2	180	0,7,6433	AA,AG,GG		0.0587,0.0458,0.0543	probably-damaging	978/3299	6653811	7,12873	2183	4257	6440	6610387	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2932C>T	11.37:g.6653811G>A	ENSP00000299441:p.Arg978Cys		6610387	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540564	0.65085	4.58E-4	5.87E-4	ENSG00000166341	ENST00000299441	T	0.55234	0.53	4.6	4.6	0.57074	Cadherin (4);Cadherin-like (1);	0.161186	0.29529	N	0.011883	T	0.72835	0.3510	M	0.79693	2.465	0.52099	D	0.999942	D	0.89917	1.0	D	0.85130	0.997	T	0.74106	-0.3772	10	0.44086	T	0.13	.	15.2989	0.73931	0.0:0.0:1.0:0.0	.	978	Q96JQ0	PCD16_HUMAN	C	978	ENSP00000299441:R978C	ENSP00000299441:R978C	R	-	1	0	DCHS1	6610387	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.268000	0.78473	2.560000	0.86352	0.561000	0.74099	CGC		0.667	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6653811	G	A	6653811	3	1	398	1	0	0	0	0	1	0	0	0	4287	1145	40	1	7028	1	DCHS1	11	6653811	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	952796	6653811	128352705	41	21776											
DTX4	23220	genome.wustl.edu	37	11	58949292	58949292	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:58949292G>A	ENST00000227451.3	+	2	396	c.292G>A	c.(292-294)Gac>Aac	p.D98N	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	98	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTGGGAGAACGACAATGGCTC	0.617																																																0			11											111	119	117					11																	58949292		2188	4294	6482	58705868	SO:0001583	missense	23220			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.292G>A	11.37:g.58949292G>A	ENSP00000227451:p.Asp98Asn		58705868	Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861272	0.91433	.	.	ENSG00000110042	ENST00000227451	T	0.33654	1.4	4.74	3.83	0.44106	WWE domain (2);WWE domain, subgroup (1);	.	.	.	.	T	0.54447	0.1859	M	0.76727	2.345	0.49389	D	0.999781	D	0.71674	0.998	D	0.64506	0.926	T	0.53975	-0.8362	9	0.33141	T	0.24	.	11.8967	0.52659	0.0852:0.0:0.9148:0.0	.	98	Q9Y2E6	DTX4_HUMAN	N	98	ENSP00000227451:D98N	ENSP00000227451:D98N	D	+	1	0	DTX4	58705868	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	9.222000	0.95196	1.240000	0.43803	0.655000	0.94253	GAC		0.617	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		A	58949292	G	A	58949292	3	1	398	1	0	0	0	0	1	0	0	0	4797	1058	37	1	298	1	DTX4	11	58949292	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	52295481	58949292	76057224	42	21777											
CCDC81	60494	genome.wustl.edu	37	11	86120325	86120325	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:86120325A>T	ENST00000445632.2	+	10	1408	c.1136A>T	c.(1135-1137)gAa>gTa	p.E379V	CCDC81_ENST00000278487.3_Missense_Mutation_p.E114V|CCDC81_ENST00000528728.1_Missense_Mutation_p.E114V|CCDC81_ENST00000354755.1_Missense_Mutation_p.E289V	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	379										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GCTACTAGAGAACAGAATCAG	0.274																																																0			11											54	60	58					11																	86120325		2202	4299	6501	85797973	SO:0001583	missense	60494			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1136A>T	11.37:g.86120325A>T	ENSP00000415528:p.Glu379Val		85797973	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217679	0.58560	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.89	4.75	0.60458	.	0.226698	0.37483	N	0.002076	T	0.61211	0.2329	M	0.72118	2.19	0.35746	D	0.819082	D;D;D	0.89917	1.0;0.994;0.999	D;P;D	0.91635	0.999;0.835;0.988	T	0.69781	-0.5052	9	.	.	.	-24.9314	11.1836	0.48642	0.8461:0.1539:0.0:0.0	.	114;379;289	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	V	289;114;379;114	ENSP00000346800:E289V;ENSP00000278487:E114V;ENSP00000415528:E379V;ENSP00000437165:E114V	.	E	+	2	0	CCDC81	85797973	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.491000	0.53252	1.035000	0.39972	0.459000	0.35465	GAA		0.274	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		T	86120325	A	T	86120325	3	4	398	1	0	0	0	0	1	0	0	0	2855	246	9	5	1174	5	CCDC81	11	86120325	Missense_Mutation	SNP	A	TCGA-36-2552-01A-01D-1526-09	27171033	86120325	48886191	43	21778											
OPCML	4978	genome.wustl.edu	37	11	132399049	132399049	+	Silent	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:132399049G>A	ENST00000331898.7	-	3	1010	c.432C>T	c.(430-432)gaC>gaT	p.D144D	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.D144D|OPCML_ENST00000524381.1_Silent_p.D137D|OPCML_ENST00000374778.4_Silent_p.D103D	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	144	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.D144E(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCACAGTGATGTCTGAGGAGA	0.453																																																1	Substitution - Missense(1)	large_intestine(1)	11											113	89	97					11																	132399049		2201	4297	6498	131904259	SO:0001819	synonymous_variant	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.432C>T	11.37:g.132399049G>A			131904259	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	CCDS8492.1																																																																																				0.453	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		A	132399049	G	A	132399049	2	1	398	1	0	0	0	0	0	0	0	1	10874	1368	48	2		2	OPCML	11	132399049	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09	46278724	132399049	2607467	44	21779											
B3GAT1	27087	genome.wustl.edu	37	11	134252867	134252867	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:134252867C>T	ENST00000524765.1	-	4	5199	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	B3GAT1_ENST00000312527.4_Missense_Mutation_p.V219I|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V232I|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V219I|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	219					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		ACGAAGGCGACGGGCCACACG	0.697																																																0			11											26	20	22					11																	134252867		2201	4294	6495	133758077	SO:0001583	missense	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.655G>A	11.37:g.134252867C>T	ENSP00000433847:p.Val219Ile		133758077	Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971262	0.92919	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87360	0.2343	10	0.66056	D	0.02	-29.2798	19.1626	0.93539	0.0:1.0:0.0:0.0	.	232;219	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	I	219;219;219;232	ENSP00000376359:V219I;ENSP00000307875:V219I;ENSP00000433847:V219I;ENSP00000445983:V232I	ENSP00000307875:V219I	V	-	1	0	B3GAT1	133758077	1.000000	0.71417	0.602000	0.28890	0.143000	0.21401	7.646000	0.83445	2.768000	0.95171	0.561000	0.74099	GTC		0.697	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		T	134252867	C	T	134252867	3	4	398	1	0	0	0	0	1	0	0	0	1253	536	19	1	357	1	B3GAT1	11	134252867	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	1853818	134252867	753649	45	21780											
CKAP4	10970	genome.wustl.edu	37	12	106641288	106641288	+	Silent	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr12:106641288G>T	ENST00000378026.4	-	1	478	c.342C>A	c.(340-342)ctC>ctA	p.L114L	CKAP4_ENST00000552828.1_Intron|RP11-651L5.2_ENST00000552486.1_RNA	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	114						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACCAGGGCGAGGTAGAAGA	0.731																																																0			12											3	4	4					12																	106641288		1781	3661	5442	105165418	SO:0001819	synonymous_variant	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.342C>A	12.37:g.106641288G>T			105165418	Q504S5|Q53ES6	Silent	SNP	ENST00000378026.4	37	CCDS9103.1																																																																																				0.731	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			T	106641288	G	T	106641288	2	4	398	1	0	0	0	0	0	0	0	1	3444	1045	37	3		3	CKAP4	12	106641288	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09		106641288	27210607	46	21781											
MYCBP2	23077	genome.wustl.edu	37	13	77625229	77625229	+	Silent	SNP	A	A	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr13:77625229A>G	ENST00000544440.2	-	82	13727	c.13710T>C	c.(13708-13710)ttT>ttC	p.F4570F	MYCBP2_ENST00000407578.2_Silent_p.F4608F|MYCBP2_ENST00000357337.6_Silent_p.F4570F					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAAACAGAAAAAAACAGCCA	0.383																																																0			13											94	94	94					13																	77625229		2203	4300	6503	76523230	SO:0001819	synonymous_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13710T>C	13.37:g.77625229A>G			76523230		Silent	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	A	9.538	1.112713	0.20795	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.56	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64097	-0.6487	6	0.72032	D	0.01	.	9.288	0.37769	0.8517:0.0:0.1483:0.0	.	.	.	.	L	991	.	ENSP00000413907:F991L	F	-	1	0	MYCBP2	76523230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.019000	0.41001	0.420000	0.25954	0.533000	0.62120	TTT		0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77625229	A	G	77625229	2	3	398	1	0	0	0	0	0	0	0	1	10018	11	1	4		4	MYCBP2	13	77625229	Silent	SNP	A	TCGA-36-2552-01A-01D-1526-09		77625229	37544649	47	21782											
ADPRHL1	113622	genome.wustl.edu	37	13	114107615	114107615	+	Silent	SNP	G	G	A	rs148683938		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr13:114107615G>A	ENST00000375418.3	-	1	224	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	46					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.L46L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCGAGAGTACGAGGTGGTCCA	0.612																																																1	Substitution - coding silent(1)	lung(1)	13						G		1,4405	2.1+/-5.4	0,1,2202	135	121	126		138	-11	0	13	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	ADPRHL1	NM_138430.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		46/355	114107615	1,13005	2203	4300	6503	113155616	SO:0001819	synonymous_variant	113622			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.138C>T	13.37:g.114107615G>A			113155616	Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	CCDS9535.1																																																																																				0.612	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		A	114107615	G	A	114107615	2	1	398	1	0	0	0	0	0	0	0	1	332	1045	37	1		1	ADPRHL1	13	114107615	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09	36482386	114107615	1062263	48	21783											
PRKD1	5587	genome.wustl.edu	37	14	30105511	30105511	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr14:30105511G>C	ENST00000331968.5	-	7	1404	c.1175C>G	c.(1174-1176)gCc>gGc	p.A392G	PRKD1_ENST00000551644.1_5'Flank|PRKD1_ENST00000415220.2_Missense_Mutation_p.A400G	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	392					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGTTCTGTTGGCGTCCTCGTG	0.498																																																0			14											298	238	259					14																	30105511		2203	4300	6503	29175262	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1175C>G	14.37:g.30105511G>C	ENSP00000333568:p.Ala392Gly		29175262	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919656	0.33908	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.66280	-0.2;-0.2	6.08	6.08	0.98989	.	0.120175	0.56097	D	0.000029	T	0.48114	0.1482	N	0.19112	0.55	0.34627	D	0.719256	B	0.02656	0.0	B	0.04013	0.001	T	0.51220	-0.8733	10	0.19590	T	0.45	-4.8988	16.8679	0.86033	0.0:0.128:0.872:0.0	.	392	Q15139	KPCD1_HUMAN	G	392;400	ENSP00000333568:A392G;ENSP00000390535:A400G	ENSP00000333568:A392G	A	-	2	0	PRKD1	29175262	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	6.165000	0.71891	2.894000	0.99253	0.591000	0.81541	GCC		0.498	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		C	30105511	G	C	30105511	3	2	398	1	0	0	0	0	1	0	0	0	12521	1203	42	3	1611	3	PRKD1	14	30105511	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09		30105511	77244029	49	21784											
TGM5	9333	genome.wustl.edu	37	15	43527071	43527071	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr15:43527071C>G	ENST00000220420.5	-	11	1778	c.1771G>C	c.(1771-1773)Gac>Cac	p.D591H	TGM5_ENST00000349114.4_Missense_Mutation_p.D509H	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	591					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ATCAGCTTGTCTGTTGACAGG	0.458																																																0			15											142	131	135					15																	43527071		2203	4299	6502	41314363	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1771G>C	15.37:g.43527071C>G	ENSP00000220420:p.Asp591His		41314363	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756583	0.69648	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.65364	1.44;-0.15	4.65	4.65	0.58169	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.116081	0.56097	D	0.000024	T	0.74283	0.3696	L	0.58669	1.825	0.40447	D	0.980108	D;D	0.89917	1.0;0.996	D;D	0.76071	0.987;0.985	T	0.77528	-0.2554	10	0.87932	D	0	-33.944	12.8838	0.58032	0.0:1.0:0.0:0.0	.	509;591	O43548-2;O43548	.;TGM5_HUMAN	H	591;509;590	ENSP00000220420:D591H;ENSP00000220419:D509H	ENSP00000220420:D591H	D	-	1	0	TGM5	41314363	0.998000	0.40836	0.992000	0.48379	0.992000	0.81027	4.654000	0.61469	2.416000	0.81992	0.563000	0.77884	GAC		0.458	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		G	43527071	C	G	43527071	3	3	398	1	0	0	0	0	1	0	0	0	15833	913	32	3	403	3	TGM5	15	43527071	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09		43527071	59004321	50	21785											
TGM5	9333	genome.wustl.edu	37	15	43528014	43528014	+	Missense_Mutation	SNP	A	A	C	rs565999024		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr15:43528014A>C	ENST00000220420.5	-	10	1374	c.1367T>G	c.(1366-1368)gTg>gGg	p.V456G	TGM5_ENST00000349114.4_Missense_Mutation_p.V374G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	456					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTTCAGAAACACCTGCCTCTC	0.602																																																0			15											74	75	75					15																	43528014		2203	4299	6502	41315306	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1367T>G	15.37:g.43528014A>C	ENSP00000220420:p.Val456Gly		41315306	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.644675	0.47258	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.56103	0.48;0.48	5.91	2.08	0.27032	.	0.580976	0.17206	N	0.182916	T	0.66446	0.2790	M	0.85373	2.75	0.52099	D	0.99994	D;P	0.55800	0.973;0.956	P;P	0.59171	0.853;0.545	T	0.67914	-0.5547	10	0.87932	D	0	-13.4092	6.0139	0.19592	0.6916:0.1397:0.1688:0.0	.	374;456	O43548-2;O43548	.;TGM5_HUMAN	G	456;374;455	ENSP00000220420:V456G;ENSP00000220419:V374G	ENSP00000220420:V456G	V	-	2	0	TGM5	41315306	0.010000	0.17322	0.998000	0.56505	0.474000	0.32979	1.676000	0.37565	1.027000	0.39758	-0.408000	0.06270	GTG		0.602	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		C	43528014	A	C	43528014	3	2	398	1	0	0	0	0	1	0	0	0	15833	159	6	5	811	5	TGM5	15	43528014	Missense_Mutation	SNP	A	TCGA-36-2552-01A-01D-1526-09	943	43528014	59003378	51	21786											
VPS13C	54832	genome.wustl.edu	37	15	62201317	62201317	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr15:62201317C>T	ENST00000261517.5	-	65	8925	c.8852G>A	c.(8851-8853)gGt>gAt	p.G2951D	VPS13C_ENST00000395896.4_Missense_Mutation_p.G2951D|VPS13C_ENST00000395898.3_Missense_Mutation_p.G2908D|VPS13C_ENST00000249837.3_Missense_Mutation_p.G2908D	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CACCAAGATACCCCCATTCTA	0.348																																																0			15											114	110	112					15																	62201317		2203	4300	6503	59988609	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8852G>A	15.37:g.62201317C>T	ENSP00000261517:p.Gly2951Asp		59988609		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690606	0.68271	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.32753	1.44;1.44;1.44;1.52	6.03	4.02	0.46733	Vacuolar protein sorting-associated protein (1);	0.051704	0.85682	D	0.000000	T	0.60157	0.2247	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.83275	0.991;0.991;0.996;0.996;0.995	T	0.69221	-0.5202	10	0.62326	D	0.03	.	16.233	0.82357	0.0:0.7493:0.2507:0.0	.	2951;2908;2951;2908;2951	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	D	2908;2951;2951;2951	ENSP00000249837:G2908D;ENSP00000261517:G2951D;ENSP00000379233:G2951D;ENSP00000379235:G2951D	ENSP00000249837:G2908D	G	-	2	0	VPS13C	59988609	1.000000	0.71417	0.913000	0.36048	0.478000	0.33099	4.507000	0.60434	1.512000	0.48834	0.655000	0.94253	GGT		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		T	62201317	C	T	62201317	3	4	398	1	0	0	0	0	1	0	0	0	17191	507	18	2	2521	2	VPS13C	15	62201317	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	18673303	62201317	40330075	52	21787											
FAM86A	196483	genome.wustl.edu	37	16	5143514	5143514	+	Missense_Mutation	SNP	G	G	A	rs537216471		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr16:5143514G>A	ENST00000427587.4	-	3	279	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R71W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	71						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGAAAGCACCGGGCATATTTG	0.562													G|||	1	0.000199681	0	0	5008	,	,		19614	0		0	False		,,,				2504	0.001															0			16											71	66	68					16																	5143514		2197	4300	6497	5083515	SO:0001583	missense	196483			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.211C>T	16.37:g.5143514G>A	ENSP00000398502:p.Arg71Trp		5083515	D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	G	4.650	0.120864	0.08881	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.19669	2.13;2.13	4.06	2.07	0.26955	.	0.148508	0.42964	U	0.000627	T	0.06826	0.0174	N	0.01874	-0.695	0.09310	N	1	B;B	0.25850	0.136;0.017	B;B	0.14023	0.01;0.002	T	0.26573	-1.0099	10	0.54805	T	0.06	.	6.739	0.23424	0.2225:0.0:0.7775:0.0	.	71;71	Q96G04-2;Q96G04	.;FA86A_HUMAN	W	71	ENSP00000389710:R71W;ENSP00000398502:R71W	ENSP00000398502:R71W	R	-	1	2	FAM86A	5083515	0.468000	0.25839	0.003000	0.11579	0.236000	0.25371	3.143000	0.50608	0.378000	0.24764	-0.463000	0.05309	CGG		0.562	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		A	5143514	G	A	5143514	3	1	398	1	0	0	0	0	1	0	0	0	5643	1115	39	1	805	1	FAM86A	16	5143514	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09		5143514	85211239	53	21788											
HS3ST2	9956	genome.wustl.edu	37	16	22926393	22926393	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr16:22926393G>A	ENST00000261374.3	+	2	1048	c.614G>A	c.(613-615)cGg>cAg	p.R205Q		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	205					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GTGGTTGTGCGGAACCCTGTG	0.577																																																0			16											133	116	122					16																	22926393		2197	4300	6497	22833894	SO:0001583	missense	9956			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.614G>A	16.37:g.22926393G>A	ENSP00000261374:p.Arg205Gln		22833894	Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109054	0.77096	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.79653	-1.29	5.07	4.11	0.48088	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92077	0.7489	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93508	0.6850	10	0.72032	D	0.01	.	12.7812	0.57479	0.0789:0.0:0.9211:0.0	.	205	Q9Y278	HS3S2_HUMAN	Q	205;213	ENSP00000261374:R205Q	ENSP00000261374:R205Q	R	+	2	0	HS3ST2	22833894	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	9.869000	0.99810	1.140000	0.42260	0.561000	0.74099	CGG		0.577	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		A	22926393	G	A	22926393	3	1	398	1	0	0	0	0	1	0	0	0	7364	1116	39	1	620	1	HS3ST2	16	22926393	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	17782879	22926393	67428360	54	21789											
MMP2	4313	genome.wustl.edu	37	16	55532304	55532304	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr16:55532304C>T	ENST00000219070.4	+	11	2222	c.1713C>T	c.(1711-1713)gcC>gcT	p.A571A	MMP2_ENST00000543485.1_Silent_p.A495A|MMP2_ENST00000437642.2_Silent_p.A521A|MMP2_ENST00000570308.1_Silent_p.A495A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	571	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGGATGCCGCCTTTAACTGGA	0.557																																																0			16											96	90	92					16																	55532304		2198	4300	6498	54089805	SO:0001819	synonymous_variant	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1713C>T	16.37:g.55532304C>T			54089805	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	CCDS10752.1																																																																																				0.557	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			T	55532304	C	T	55532304	2	4	398	1	0	0	0	0	0	0	0	1	9658	668	24	2		2	MMP2	16	55532304	Silent	SNP	C	TCGA-36-2552-01A-01D-1526-09	32605911	55532304	34822449	55	21790											
FAM64A	54478	genome.wustl.edu	37	17	6348467	6348467	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr17:6348467C>A	ENST00000250056.8	+	2	120	c.37C>A	c.(37-39)Cgc>Agc	p.R13S	FAM64A_ENST00000571373.1_Missense_Mutation_p.R13S|FAM64A_ENST00000572595.2_Missense_Mutation_p.R13S|FAM64A_ENST00000576056.1_Missense_Mutation_p.R13S|FAM64A_ENST00000572447.1_Missense_Mutation_p.R13S|FAM64A_ENST00000570337.2_Missense_Mutation_p.R13S	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	13					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GACCTCCGTGCGCCGGAGATC	0.632																																																0			17											26	29	28					17																	6348467		2203	4300	6503	6289191	SO:0001583	missense	54478				CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.37C>A	17.37:g.6348467C>A	ENSP00000250056:p.Arg13Ser		6289191	Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	C	9.106	1.005367	0.19199	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.57595	0.39	4.66	3.64	0.41730	.	0.300775	0.23969	N	0.042800	T	0.52075	0.1712	M	0.68317	2.08	0.09310	N	1	P;B	0.43169	0.8;0.275	P;B	0.45071	0.468;0.09	T	0.44267	-0.9339	10	0.29301	T	0.29	-6.2058	9.8394	0.40989	0.0:0.7728:0.2272:0.0	.	13;13	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	S	13	ENSP00000250056:R13S	ENSP00000250056:R13S	R	+	1	0	FAM64A	6289191	0.440000	0.25618	0.200000	0.23457	0.009000	0.06853	2.119000	0.41958	2.405000	0.81733	0.655000	0.94253	CGC		0.632	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		A	6348467	C	A	6348467	3	1	398	1	0	0	0	0	1	0	0	0	5598	768	27	3	39	3	FAM64A	17	6348467	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09		6348467	74846743	56	21791											
TP53	7157	genome.wustl.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCC	0.557		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"	144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	17											89	80	83					17																	7578275		2203	4300	6503	7519000	SO:0001587	stop_gained	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.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*		7519000	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578275	G	A	7578275	4	1	398	1	0	0	0	0	0	1	0	0	16381	1299	45	2	720	2	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	1229808	7578275	73616935	57	21792											
KPNB1	3837	genome.wustl.edu	37	17	45755731	45755731	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr17:45755731T>C	ENST00000290158.4	+	19	2712	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	KPNB1_ENST00000537679.1_Missense_Mutation_p.Y553H|KPNB1_ENST00000540627.1_Missense_Mutation_p.Y624H|KPNB1_ENST00000535458.2_Missense_Mutation_p.Y624H	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	769					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTTGGAAGCCTATACTGGAAT	0.473																																																0			17											125	110	115					17																	45755731		2203	4300	6503	43110730	SO:0001583	missense	3837			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2305T>C	17.37:g.45755731T>C	ENSP00000290158:p.Tyr769His		43110730	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783280	0.49891	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	M	0.89785	3.06	0.42916	D	0.994270	D;D	0.69078	0.997;0.995	P;P	0.61940	0.896;0.886	D	0.87937	0.2714	9	0.87932	D	0	-11.0266	16.0766	0.80971	0.0:0.0:0.0:1.0	.	553;769	F5H4R7;Q14974	.;IMB1_HUMAN	H	624;769;624;553	ENSP00000438253:Y624H;ENSP00000290158:Y769H;ENSP00000438964:Y624H;ENSP00000445006:Y553H	ENSP00000290158:Y769H	Y	+	1	0	KPNB1	43110730	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.018000	0.88722	2.202000	0.70862	0.533000	0.62120	TAT		0.473	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		C	45755731	T	C	45755731	3	2	398	1	0	0	0	0	1	0	0	0	8435	1522	53	4	2379	4	KPNB1	17	45755731	Missense_Mutation	SNP	T	TCGA-36-2552-01A-01D-1526-09	38177456	45755731	35439479	58	21793											
USP32	84669	genome.wustl.edu	37	17	58258690	58258690	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr17:58258690T>C	ENST00000300896.4	-	32	4737	c.4543A>G	c.(4543-4545)Att>Gtt	p.I1515V	USP32_ENST00000592339.1_Missense_Mutation_p.I1185V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1515	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTACCGAAATTGCATATAGA	0.378																																																0			17											88	87	87					17																	58258690		2203	4300	6503	55613472	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4543A>G	17.37:g.58258690T>C	ENSP00000300896:p.Ile1515Val		55613472	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.200187	0.38905	.	.	ENSG00000170832	ENST00000300896	T	0.18810	2.19	5.45	5.45	0.79879	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	L	0.32530	0.975	0.80722	D	1	D	0.53151	0.958	D	0.70716	0.97	T	0.03630	-1.1018	10	0.02654	T	1	.	14.6836	0.69035	0.0:0.0:0.0:1.0	.	1515	Q8NFA0	UBP32_HUMAN	V	1515	ENSP00000300896:I1515V	ENSP00000300896:I1515V	I	-	1	0	USP32	55613472	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.758000	0.85224	2.074000	0.62210	0.454000	0.30748	ATT		0.378	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		C	58258690	T	C	58258690	3	2	398	1	0	0	0	0	1	0	0	0	17063	1493	52	4	283	4	USP32	17	58258690	Missense_Mutation	SNP	T	TCGA-36-2552-01A-01D-1526-09	12502959	58258690	22936520	59	21794											
MC2R	4158	genome.wustl.edu	37	18	13884676	13884676	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr18:13884676G>C	ENST00000327606.3	-	2	1022	c.842C>G	c.(841-843)cCa>cGa	p.P281R		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	281					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CCTGAGCTCTGGGCTCCGGAA	0.498																																					Colon(141;1584 1782 35999 48227 48692)											0			18											111	107	108					18																	13884676		2203	4300	6503	13874676	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.842C>G	18.37:g.13884676G>C	ENSP00000333821:p.Pro281Arg		13874676	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085859	0.36758	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.35789	1.29	5.06	5.06	0.68205	.	0.267666	0.36972	N	0.002304	T	0.45538	0.1347	N	0.24115	0.695	0.34102	D	0.661955	D	0.65815	0.995	P	0.62184	0.899	T	0.58736	-0.7584	10	0.56958	D	0.05	.	18.425	0.90606	0.0:0.0:1.0:0.0	.	281	Q01718	ACTHR_HUMAN	R	281	ENSP00000333821:P281R	ENSP00000333821:P281R	P	-	2	0	MC2R	13874676	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.782000	0.47758	2.350000	0.79820	0.655000	0.94253	CCA		0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			C	13884676	G	C	13884676	3	2	398	1	0	0	0	0	1	0	0	0	9364	1348	47	3	55	3	MC2R	18	13884676	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09		13884676	64192572	60	21795											
FBN3	84467	genome.wustl.edu	37	19	8160335	8160335	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr19:8160335G>C	ENST00000600128.1	-	46	6123	c.5709C>G	c.(5707-5709)tgC>tgG	p.C1903W	FBN3_ENST00000601739.1_Missense_Mutation_p.C1903W|FBN3_ENST00000270509.2_Missense_Mutation_p.C1903W			Q75N90	FBN3_HUMAN	fibrillin 3	1903	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGTGTTGAGGCAATGGCCAA	0.552																																																0			19											118	83	95					19																	8160335		2203	4300	6503	8066335	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5709C>G	19.37:g.8160335G>C	ENSP00000470498:p.Cys1903Trp		8066335	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.806227|2.806227	0.50421|0.50421	.|.	.|.	ENSG00000142449|ENSG00000142449	ENST00000341066|ENST00000270509	.|D	.|0.99445	.|-5.91	4.68|4.68	-2.13|-2.13	0.07144|0.07144	.|EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.99654|0.99654	0.9872|0.9872	H|H	0.99090|0.99090	4.425|4.425	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.98572|0.98572	1.0646|1.0646	6|10	0.87932|0.87932	D|D	0|0	.|.	10.4518|10.4518	0.44526|0.44526	0.4826:0.0:0.5174:0.0|0.4826:0.0:0.5174:0.0	.|.	.|1903	.|Q75N90	.|FBN3_HUMAN	G|W	23|1903	.|ENSP00000270509:C1903W	ENSP00000341317:A23G|ENSP00000270509:C1903W	A|C	-|-	2|3	0|2	FBN3|FBN3	8066335|8066335	0.005000|0.005000	0.15991|0.15991	0.959000|0.959000	0.39883|0.39883	0.797000|0.797000	0.45037|0.45037	-0.387000|-0.387000	0.07361|0.07361	-0.190000|-0.190000	0.10465|0.10465	-0.345000|-0.345000	0.07892|0.07892	GCC|TGC		0.552	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		C	8160335	G	C	8160335	3	2	398	1	0	0	0	0	1	0	0	0	5704	1195	42	3	2796	3	FBN3	19	8160335	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09		8160335	50968648	61	21796											
SSBP4	170463	genome.wustl.edu	37	19	18542826	18542826	+	Silent	SNP	C	C	T	rs368498567		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr19:18542826C>T	ENST00000270061.7	+	9	876	c.582C>T	c.(580-582)ggC>ggT	p.G194G	SSBP4_ENST00000348495.6_Silent_p.G172G|SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	194	Pro-rich.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						CGAGCATGGGCGGCCCAATGC	0.682																																																0			19						C	,	1,4405		0,1,2202	21	26	24		516,582	-7.1	0.9	19		24	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	SSBP4	NM_001009998.3,NM_032627.4	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	172/364,194/386	18542826	1,13003	2203	4299	6502	18403826	SO:0001819	synonymous_variant	170463				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.582C>T	19.37:g.18542826C>T			18403826	Q9BWW5	Silent	SNP	ENST00000270061.7	37	CCDS12378.1																																																																																				0.682	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		T	18542826	C	T	18542826	2	4	398	1	0	0	0	0	0	0	0	1	15184	755	27	1		1	SSBP4	19	18542826	Silent	SNP	C	TCGA-36-2552-01A-01D-1526-09	10382491	18542826	40586157	62	21797											
SCAF1	58506	genome.wustl.edu	37	19	50155966	50155966	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr19:50155966G>T	ENST00000360565.3	+	7	2444	c.2320G>T	c.(2320-2322)Gac>Tac	p.D774Y		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	774	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAAGGCGCTGGACGGGGGTga	0.706																																																0			19											11	14	13					19																	50155966		2149	4241	6390	54847778	SO:0001583	missense	58506			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2320G>T	19.37:g.50155966G>T	ENSP00000353769:p.Asp774Tyr		54847778	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	G	9.201	1.028464	0.19512	.	.	ENSG00000126461	ENST00000360565	T	0.33865	1.39	3.73	2.61	0.31194	.	0.530178	0.14090	N	0.342109	T	0.28499	0.0705	N	0.19112	0.55	0.09310	N	1	D	0.54207	0.965	P	0.51229	0.663	T	0.04708	-1.0932	9	.	.	.	-16.5023	6.1923	0.20530	0.1043:0.0:0.7085:0.1872	.	774	Q9H7N4	SFR19_HUMAN	Y	774	ENSP00000353769:D774Y	.	D	+	1	0	SCAF1	54847778	0.027000	0.19231	0.556000	0.28293	0.825000	0.46686	0.563000	0.23547	1.913000	0.55393	0.561000	0.74099	GAC		0.706	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		T	50155966	G	T	50155966	3	4	398	1	0	0	0	0	1	0	0	0	13871	1174	41	3	2342	3	SCAF1	19	50155966	Missense_Mutation	SNP	G	TCGA-36-2552-01A-01D-1526-09	31613140	50155966	8973017	63	21798											
FIZ1	84922	genome.wustl.edu	37	19	56104813	56104813	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr19:56104813C>T	ENST00000221665.3	-	3	583	c.494G>A	c.(493-495)gGc>gAc	p.G165D	FIZ1_ENST00000592585.1_3'UTR	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	165					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGCCCCTGAGCCCCCGCACAC	0.781																																																0			19											2	4	3					19																	56104813		1366	2619	3985	60796625	SO:0001583	missense	84922			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.494G>A	19.37:g.56104813C>T	ENSP00000221665:p.Gly165Asp		60796625	A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	C	0.893	-0.724965	0.03158	.	.	ENSG00000179943	ENST00000221665	T	0.09723	2.95	3.38	3.38	0.38709	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.50467	D	0.999879	B	0.18863	0.031	B	0.16722	0.016	T	0.25047	-1.0143	9	0.87932	D	0	.	10.5357	0.45002	0.0:1.0:0.0:0.0	.	165	Q96SL8	FIZ1_HUMAN	D	165	ENSP00000221665:G165D	ENSP00000221665:G165D	G	-	2	0	FIZ1	60796625	0.081000	0.21417	0.046000	0.18839	0.368000	0.29767	0.648000	0.24828	1.910000	0.55303	0.555000	0.69702	GGC		0.781	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		T	56104813	C	T	56104813	3	4	398	1	0	0	0	0	1	0	0	0	5900	739	26	2	1000	2	FIZ1	19	56104813	Missense_Mutation	SNP	C	TCGA-36-2552-01A-01D-1526-09	5948847	56104813	3024170	64	21799											
ASXL1	171023	genome.wustl.edu	37	20	31023269	31023269	+	Silent	SNP	C	C	T	rs529527086		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr20:31023269C>T	ENST00000375687.4	+	13	3178	c.2754C>T	c.(2752-2754)caC>caT	p.H918H	ASXL1_ENST00000306058.5_Silent_p.H913H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	918					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCAGAGAACACATACCATCTG	0.507			"F, N, Mis"		"MDS, CMML"																																		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											74	69	71					20																	31023269		2203	4300	6503	30486930	SO:0001819	synonymous_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2754C>T	20.37:g.31023269C>T			30486930	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																				0.507	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		T	31023269	C	T	31023269	2	4	398	1	0	0	0	0	0	0	0	1	1066	477	17	2		2	ASXL1	20	31023269	Silent	SNP	C	TCGA-36-2552-01A-01D-1526-09		31023269	32002251	65	21800											
CELSR1	9620	genome.wustl.edu	37	22	46787570	46787570	+	Silent	SNP	G	G	A	rs139684569	byFrequency	TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr22:46787570G>A	ENST00000262738.3	-	15	6107	c.6108C>T	c.(6106-6108)tgC>tgT	p.C2036C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2036	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGGTTGTCGCAGCGGTTGC	0.687													G|||	9	0.00179712	0.0068	0	5008	,	,		16012	0		0	False		,,,				2504	0															0			22						G		36,4366		0,36,2165	31	30	31		6108	-8.9	0.8	22	dbSNP_134	31	0,8588		0,0,4294	no	coding-synonymous	CELSR1	NM_014246.1		0,36,6459	AA,AG,GG		0.0,0.8178,0.2771		2036/3015	46787570	36,12954	2201	4294	6495	45166234	SO:0001819	synonymous_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6108C>T	22.37:g.46787570G>A			45166234	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																				0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46787570	G	A	46787570	2	1	398	1	0	0	0	0	0	0	0	1	3221	1079	38	1		1	CELSR1	22	46787570	Silent	SNP	G	TCGA-36-2552-01A-01D-1526-09		46787570	4516996	66	21801											
MPP1	4354	genome.wustl.edu	37	X	154020058	154020058	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chrX:154020058A>C	ENST00000369534.3	-	3	458	c.311T>G	c.(310-312)aTg>aGg	p.M104R	MPP1_ENST00000462825.1_Intron|MPP1_ENST00000413259.3_Missense_Mutation_p.M74R|MPP1_ENST00000393531.1_Missense_Mutation_p.M104R	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	104	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTATGGATCATGCCACCATG	0.448																																																0			X											124	98	107					X																	154020058		2203	4300	6503	153673252	SO:0001583	missense	4354				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.311T>G	X.37:g.154020058A>C	ENSP00000358547:p.Met104Arg		153673252	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733975	0.69189	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000393529;ENST00000369531	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.5	5.5	0.81552	PDZ/DHR/GLGF (4);	0.115656	0.85682	D	0.000000	T	0.56441	0.1985	M	0.80508	2.5	0.80722	D	1	P;P;D;P	0.56035	0.784;0.956;0.974;0.956	P;D;D;D	0.67725	0.472;0.936;0.936;0.953	T	0.62383	-0.6866	10	0.87932	D	0	.	13.4014	0.60885	1.0:0.0:0.0:0.0	.	87;74;104;104	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	R	104;74;104;58;87	ENSP00000358547:M104R;ENSP00000400155:M74R;ENSP00000377165:M104R;ENSP00000377163:M58R;ENSP00000358544:M87R	ENSP00000358544:M87R	M	-	2	0	MPP1	153673252	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	8.862000	0.92283	1.843000	0.53566	0.437000	0.28790	ATG		0.448	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		C	154020058	A	C	154020058	3	2	398	1	0	0	0	0	1	0	0	0	9733	217	8	5	1129	5	MPP1	23	154020058	Missense_Mutation	SNP	A	TCGA-36-2552-01A-01D-1526-09		154020058	1250502	67	21802											
SLC45A1	50651	genome.wustl.edu	37	1	8404039	8404039	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:8404039A>T	ENST00000471889.1	+	9	2598	c.2213A>T	c.(2212-2214)gAc>gTc	p.D738V	SLC45A1_ENST00000289877.8_Missense_Mutation_p.D738V|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D772V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	738					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GACGCTGCAGACGAGGAGCAC	0.627																																																0			1											77	64	68					1																	8404039		2203	4300	6503	8326626	SO:0001583	missense	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.2213A>T	1.37:g.8404039A>T	ENSP00000418096:p.Asp738Val		8326626	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	A	8.593	0.884995	0.17540	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.19394	2.17;2.15;2.17	5.1	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);	0.727267	0.13793	N	0.362366	T	0.12475	0.0303	N	0.14661	0.345	0.23773	N	0.996885	B	0.02656	0.0	B	0.04013	0.001	T	0.21314	-1.0249	10	0.62326	D	0.03	-15.503	7.2003	0.25877	0.5749:0.2935:0.0:0.1316	.	738	Q9Y2W3	S45A1_HUMAN	V	738;772;738	ENSP00000418096:D738V;ENSP00000366699:D772V;ENSP00000289877:D738V	ENSP00000289877:D738V	D	+	2	0	SLC45A1	8326626	0.005000	0.15991	0.093000	0.20910	0.276000	0.26787	1.179000	0.31993	0.782000	0.33613	0.454000	0.30748	GAC		0.627	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			T	8404039	A	T	8404039	3	4	399	1	0	0	0	0	1	0	0	0	14643	275	10	5	2243	5	SLC45A1	1	8404039	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09		8404039	240846582	1	21803											
CELA2A	63036	genome.wustl.edu	37	1	15793896	15793896	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:15793896C>A	ENST00000359621.4	+	7	680	c.655C>A	c.(655-657)Cca>Aca	p.P219T	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTCTGGCGGGCCACTGAACTG	0.577																																																0			1											55	55	55					1																	15793896		2203	4300	6503	15666483	SO:0001583	missense	63036				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.655C>A	1.37:g.15793896C>A	ENSP00000352639:p.Pro219Thr		15666483	B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	CCDS157.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198138	0.38806	.	.	ENSG00000142615	ENST00000359621	D	0.98701	-5.08	3.08	3.08	0.35506	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	U	0.000027	D	0.99363	0.9776	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98444	1.0588	10	0.87932	D	0	.	12.796	0.57560	0.0:1.0:0.0:0.0	.	219	P08217	CEL2A_HUMAN	T	219	ENSP00000352639:P219T	ENSP00000352639:P219T	P	+	1	0	CELA2A	15666483	1.000000	0.71417	0.180000	0.23079	0.011000	0.07611	7.312000	0.78968	1.552000	0.49463	0.313000	0.20887	CCA		0.577	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		A	15793896	C	A	15793896	3	1	399	1	0	0	0	0	1	0	0	0	3211	739	26	3	681	3	CELA2A	1	15793896	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	7389857	15793896	233456725	2	21804											
GRHL3	57822	genome.wustl.edu	37	1	24671394	24671394	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:24671394C>G	ENST00000350501.5	+	12	1554	c.1427C>G	c.(1426-1428)cCc>cGc	p.P476R	GRHL3_ENST00000342072.4_Missense_Mutation_p.P383R|GRHL3_ENST00000236255.4_Missense_Mutation_p.P481R|GRHL3_ENST00000356046.2_Missense_Mutation_p.P430R|GRHL3_ENST00000361548.4_Missense_Mutation_p.P476R	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	476					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGGCAGCCCCCTCGGCAGGA	0.572																																																0			1											110	108	109					1																	24671394		2203	4300	6503	24543981	SO:0001583	missense	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1427C>G	1.37:g.24671394C>G	ENSP00000288955:p.Pro476Arg		24543981	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	5.172	0.217378	0.09810	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11712	2.93;2.75;2.91;2.93;2.93	5.04	3.17	0.36434	.	0.860585	0.10440	N	0.674427	T	0.09468	0.0233	L	0.36672	1.1	0.35729	D	0.817764	B;B;B	0.27416	0.047;0.178;0.178	B;B;B	0.26864	0.02;0.074;0.047	T	0.16958	-1.0385	10	0.30854	T	0.27	-1.3132	8.3224	0.32136	0.0:0.8129:0.0:0.1871	.	430;481;476	A2A297;Q8TE85-2;G3XAF0	.;.;.	R	476;383;476;430;481	ENSP00000354943:P476R;ENSP00000340543:P383R;ENSP00000288955:P476R;ENSP00000348333:P430R;ENSP00000236255:P481R	ENSP00000236255:P481R	P	+	2	0	GRHL3	24543981	0.000000	0.05858	0.183000	0.23137	0.407000	0.30961	0.501000	0.22578	0.800000	0.34041	0.655000	0.94253	CCC		0.572	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		G	24671394	C	G	24671394	3	3	399	1	0	0	0	0	1	0	0	0	6765	623	22	3	1509	3	GRHL3	1	24671394	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	8877498	24671394	224579227	3	21805											
PHC2	1912	genome.wustl.edu	37	1	33790577	33790577	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:33790577G>C	ENST00000257118.5	-	14	2519	c.2466C>G	c.(2464-2466)gaC>gaG	p.D822E	RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.D428E|PHC2_ENST00000431992.1_Missense_Mutation_p.D793E|PHC2_ENST00000419414.2_Missense_Mutation_p.D823E|RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000587696.1_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.D287E	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	822	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGCTTGCCCGTCGATTTCCT	0.597																																																0			1											66	58	61					1																	33790577		2203	4300	6503	33563164	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2466C>G	1.37:g.33790577G>C	ENSP00000257118:p.Asp822Glu		33563164	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963897	0.53507	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.73	0.782	0.18567	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78262	-0.2272	10	0.87932	D	0	-20.886	8.8049	0.34932	0.7183:0.0:0.2817:0.0	.	823;794;822	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	E	793;822;428;287;398;823	ENSP00000389436:D793E;ENSP00000257118:D822E;ENSP00000362521:D428E;ENSP00000362517:D287E;ENSP00000391440:D823E	ENSP00000257118:D822E	D	-	3	2	PHC2	33563164	0.103000	0.21917	0.960000	0.40013	0.651000	0.38670	-0.460000	0.06720	-0.088000	0.12506	-0.140000	0.14226	GAC		0.597	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		C	33790577	G	C	33790577	3	2	399	1	0	0	0	0	1	0	0	0	11817	1136	40	3	114	3	PHC2	1	33790577	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	9119183	33790577	215460044	4	21806											
KIAA0494	9813	genome.wustl.edu	37	1	47162270	47162270	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:47162270C>A	ENST00000371933.3	-	4	1508	c.532G>T	c.(532-534)Gct>Tct	p.A178S	EFCAB14_ENST00000484461.1_5'Flank|EFCAB14_ENST00000544071.1_Missense_Mutation_p.A178S	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	178							calcium ion binding (GO:0005509)										AAGTCTGCAGCTGACTTAACA	0.438																																																0			1											189	164	172					1																	47162270		2203	4300	6503	46934857	SO:0001583	missense	9813			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.532G>T	1.37:g.47162270C>A	ENSP00000361001:p.Ala178Ser		46934857	D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797591	0.90538	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	D;D	0.95756	-3.8;-3.8	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.96941	0.9001	M	0.65498	2.005	0.53688	D	0.999977	D;D;D;D	0.69078	0.971;0.993;0.993;0.997	P;P;P;P	0.61800	0.654;0.879;0.879;0.894	D	0.96166	0.9119	10	0.42905	T	0.14	-0.6397	18.2118	0.89872	0.0:1.0:0.0:0.0	.	34;178;178;178	B7Z3D1;F5H7K3;B7Z444;O75071	.;.;.;K0494_HUMAN	S	178	ENSP00000442465:A178S;ENSP00000361001:A178S	ENSP00000361001:A178S	A	-	1	0	KIAA0494	46934857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.836000	0.97738	0.655000	0.94253	GCT		0.438	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		A	47162270	C	A	47162270	3	1	399	1	0	0	0	0	1	0	0	0	8179	797	28	3	987	3	KIAA0494	1	47162270	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	13371693	47162270	202088351	5	21807											
TOMM40L	84134	genome.wustl.edu	37	1	161197480	161197480	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:161197480G>T	ENST00000367988.3	+	5	600	c.331G>T	c.(331-333)Gtc>Ttc	p.V111F	NR1I3_ENST00000479324.1_5'Flank|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000545897.1_Intron|TOMM40L_ENST00000474486.1_Intron|TOMM40L_ENST00000367987.1_Missense_Mutation_p.V111F	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	111					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAACGCCCAGGTCTTGCTCCT	0.592											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											60	53	56					1																	161197480		2203	4300	6503	159464104	SO:0001583	missense	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.331G>T	1.37:g.161197480G>T	ENSP00000356967:p.Val111Phe	1814	159464104	B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305663	0.40795	.	.	ENSG00000158882	ENST00000367988;ENST00000542686;ENST00000367987	T;T	0.47177	0.85;0.85	5.6	4.69	0.59074	.	0.184964	0.48767	D	0.000180	T	0.12646	0.0307	N	0.20986	0.625	0.34963	D	0.752391	B	0.19583	0.037	B	0.24006	0.05	T	0.10382	-1.0632	9	0.08381	T	0.77	-18.0553	8.5902	0.33682	0.172:0.0:0.828:0.0	.	111	Q969M1	TM40L_HUMAN	F	111;58;111	ENSP00000356967:V111F;ENSP00000356966:V111F	ENSP00000356966:V111F	V	+	1	0	TOMM40L	159464104	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.384000	0.34396	1.375000	0.46248	-0.136000	0.14681	GTC		0.592	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		T	161197480	G	T	161197480	3	4	399	1	0	0	0	0	1	0	0	0	16359	1261	44	3	345	3	TOMM40L	1	161197480	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	114035210	161197480	88053141	6	21808											
C1orf107	27042	genome.wustl.edu	37	1	210006589	210006589	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:210006589T>G	ENST00000491415.2	+	4	505	c.448T>G	c.(448-450)Tca>Gca	p.S150A		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	150	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACCGGGCACATCACAAACATC	0.428																																																0			1											87	81	83					1																	210006589		2203	4300	6503	208073212	SO:0001583	missense	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.448T>G	1.37:g.210006589T>G	ENSP00000419005:p.Ser150Ala		208073212	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	T	3.197	-0.164576	0.06502	.	.	ENSG00000117597	ENST00000491415	T	0.43294	0.95	4.29	3.17	0.36434	.	0.655303	0.14790	N	0.298284	T	0.26412	0.0645	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16188	-1.0411	10	0.20046	T	0.44	-0.6591	4.4301	0.11524	0.0:0.1021:0.2013:0.6966	.	150	Q68CQ4	DIEXF_HUMAN	A	150	ENSP00000419005:S150A	ENSP00000419005:S150A	S	+	1	0	DIEXF	208073212	0.002000	0.14202	0.022000	0.16811	0.065000	0.16274	0.361000	0.20267	1.000000	0.39049	0.528000	0.53228	TCA		0.428	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		G	210006589	T	G	210006589	3	3	399	1	0	0	0	0	1	0	0	0	1981	1435	50	5	462	5	C1orf107	1	210006589	Missense_Mutation	SNP	T	TCGA-42-2582-01A-01D-1526-09	48809109	210006589	39244032	7	21809											
TMEM206	55248	genome.wustl.edu	37	1	212553331	212553331	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:212553331G>C	ENST00000261455.4	-	5	681	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	TMEM206_ENST00000535273.1_Missense_Mutation_p.L243V	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	182						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AGGAAGACCAGCTCCCGCTTT	0.542																																																0			1											82	88	86					1																	212553331		2203	4300	6503	210619954	SO:0001583	missense	55248			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 75"	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.544C>G	1.37:g.212553331G>C	ENSP00000261455:p.Leu182Val		210619954	B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384632	0.42308	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.57	4.65	0.58169	.	0.213074	0.41194	D	0.000935	T	0.38799	0.1054	N	0.20986	0.625	0.48632	D	0.999684	P;B	0.37731	0.607;0.433	B;B	0.36378	0.223;0.183	T	0.33675	-0.9859	9	0.42905	T	0.14	-13.3238	13.8959	0.63770	0.073:0.0:0.927:0.0	.	243;182	B7Z4D6;Q9H813	.;TM206_HUMAN	V	182;243	.	ENSP00000261455:L182V	L	-	1	2	TMEM206	210619954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.302000	0.43637	2.635000	0.89317	0.650000	0.86243	CTG		0.542	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		C	212553331	G	C	212553331	3	2	399	1	0	0	0	0	1	0	0	0	16131	962	34	3	524	3	TMEM206	1	212553331	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	2546742	212553331	36697290	8	21810											
GPR137B	7107	genome.wustl.edu	37	1	236306111	236306111	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr1:236306111G>C	ENST00000366592.3	+	1	280	c.189G>C	c.(187-189)caG>caC	p.Q63H	GPR137B_ENST00000366591.4_Missense_Mutation_p.Q63H	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	63						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCTACGTGCAGCTCTGGCTGG	0.632																																																0			1											115	94	101					1																	236306111		2203	4300	6503	234372734	SO:0001583	missense	7107			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"transmembrane 7 superfamily member 1 (upregulated in kidney)"	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.189G>C	1.37:g.236306111G>C	ENSP00000355551:p.Gln63His		234372734	Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521808	0.85600	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;T	0.24538	1.85;1.85	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	M	0.82323	2.585	0.58432	D	0.999998	D	0.56968	0.978	P	0.58873	0.847	T	0.56202	-0.8018	10	0.72032	D	0.01	-9.0091	13.4742	0.61299	0.0782:0.0:0.9218:0.0	.	63	O60478	G137B_HUMAN	H	63;63;62	ENSP00000355551:Q63H;ENSP00000355550:Q63H	ENSP00000355550:Q63H	Q	+	3	2	GPR137B	234372734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.398000	0.66308	2.264000	0.75181	0.549000	0.68633	CAG		0.632	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		C	236306111	G	C	236306111	3	2	399	1	0	0	0	0	1	0	0	0	6646	962	34	3	191	3	GPR137B	1	236306111	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	23752780	236306111	12944510	9	21811											
TCF23	150921	genome.wustl.edu	37	2	27375665	27375665	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:27375665C>A	ENST00000296096.5	+	3	705	c.575C>A	c.(574-576)tCc>tAc	p.S192Y		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	192					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGTGGGGTCCCAAGTCCCT	0.547																																																0			2											109	107	108					2																	27375665		2203	4300	6503	27229169	SO:0001583	missense	150921			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.575C>A	2.37:g.27375665C>A	ENSP00000296096:p.Ser192Tyr		27229169	B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993357	0.35131	.	.	ENSG00000163792	ENST00000296096	D	0.97575	-4.44	5.02	3.15	0.36227	.	1.037420	0.07582	N	0.920442	D	0.93556	0.7943	L	0.36672	1.1	0.09310	N	1	P	0.42785	0.79	B	0.38500	0.275	D	0.88020	0.2768	10	0.51188	T	0.08	0.1221	5.6194	0.17450	0.1974:0.7024:0.0:0.1002	.	192	Q7RTU1	TCF23_HUMAN	Y	192	ENSP00000296096:S192Y	ENSP00000296096:S192Y	S	+	2	0	TCF23	27229169	0.002000	0.14202	0.017000	0.16124	0.017000	0.09413	1.655000	0.37345	1.205000	0.43262	0.655000	0.94253	TCC		0.547	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		A	27375665	C	A	27375665	3	1	399	1	0	0	0	0	1	0	0	0	15692	855	30	3	585	3	TCF23	2	27375665	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09		27375665	215823708	10	21812											
EML4	27436	genome.wustl.edu	37	2	42490350	42490350	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:42490350A>G	ENST00000318522.5	+	5	807	c.545A>G	c.(544-546)cAt>cGt	p.H182R	EML4_ENST00000402711.2_Missense_Mutation_p.H124R|EML4_ENST00000401738.3_Missense_Mutation_p.H182R	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	182					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GAAAAGTCACATAATTCTTGG	0.323			T	ALK	NSCLC																																		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0			2											80	78	79					2																	42490350		2203	4300	6503	42343854	SO:0001583	missense	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.545A>G	2.37:g.42490350A>G	ENSP00000320663:p.His182Arg		42343854	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	a	10.24	1.296297	0.23650	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.61158	1.17;1.31;0.13	5.36	1.54	0.23209	.	0.305840	0.30329	N	0.009870	T	0.33323	0.0859	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05257	-1.0896	10	0.13108	T	0.6	-8.9716	4.7944	0.13265	0.6919:0.1139:0.0723:0.1218	.	124;182	B5MCW9;Q9HC35	.;EMAL4_HUMAN	R	182;124;182	ENSP00000320663:H182R;ENSP00000385059:H124R;ENSP00000384939:H182R	ENSP00000320663:H182R	H	+	2	0	EML4	42343854	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	1.953000	0.40352	0.885000	0.36088	0.456000	0.33151	CAT		0.323	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		G	42490350	A	G	42490350	3	3	399	1	0	0	0	0	1	0	0	0	5099	217	8	4	563	4	EML4	2	42490350	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09	15114685	42490350	200709023	11	21813											
PUS10	150962	genome.wustl.edu	37	2	61175193	61175193	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:61175193T>G	ENST00000316752.6	-	16	1697	c.1436A>C	c.(1435-1437)aAa>aCa	p.K479T	PUS10_ENST00000407787.1_Missense_Mutation_p.K479T	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	479					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AGCCTGAGTTTTCAAGTGGAG	0.552																																																0			2											156	157	157					2																	61175193		2203	4300	6503	61028697	SO:0001583	missense	150962			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1436A>C	2.37:g.61175193T>G	ENSP00000326003:p.Lys479Thr		61028697	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742730	0.30865	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	D;D	0.87571	-2.27;-2.27	5.72	4.56	0.56223	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	L	0.60067	1.865	0.80722	D	1	P;P	0.34462	0.454;0.454	B;B	0.34452	0.183;0.183	T	0.80261	-0.1456	10	0.32370	T	0.25	-3.3793	11.8575	0.52446	0.0:0.0683:0.0:0.9317	.	479;479	A8K6R4;Q3MIT2	.;PUS10_HUMAN	T	479	ENSP00000326003:K479T;ENSP00000386074:K479T	ENSP00000326003:K479T	K	-	2	0	PUS10	61028697	1.000000	0.71417	0.974000	0.42286	0.355000	0.29361	3.876000	0.56115	1.103000	0.41568	0.528000	0.53228	AAA		0.552	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		G	61175193	T	G	61175193	3	3	399	1	0	0	0	0	1	0	0	0	12834	1841	64	5	165	5	PUS10	2	61175193	Missense_Mutation	SNP	T	TCGA-42-2582-01A-01D-1526-09	18684843	61175193	182024180	12	21814											
MERTK	10461	genome.wustl.edu	37	2	112733038	112733038	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:112733038C>T	ENST00000295408.4	+	7	1390	c.1133C>T	c.(1132-1134)aCg>aTg	p.T378M	MERTK_ENST00000421804.2_Missense_Mutation_p.T378M|MERTK_ENST00000409780.1_Missense_Mutation_p.T202M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	378	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTAGCCAGCACGACTGAAGGA	0.478																																																0			2											109	105	106					2																	112733038		2203	4300	6503	112449509	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1133C>T	2.37:g.112733038C>T	ENSP00000295408:p.Thr378Met		112449509	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983205	0.74474	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.64991	-0.13;-0.13;-0.13	5.57	5.57	0.84162	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.34460	U	0.003957	T	0.80854	0.4703	M	0.79475	2.455	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.82637	-0.0359	10	0.87932	D	0	-23.7323	19.1494	0.93482	0.0:1.0:0.0:0.0	.	378	Q12866	MERTK_HUMAN	M	378;378;202	ENSP00000295408:T378M;ENSP00000389152:T378M;ENSP00000387277:T202M	ENSP00000295408:T378M	T	+	2	0	MERTK	112449509	1.000000	0.71417	0.958000	0.39756	0.852000	0.48524	5.448000	0.66612	2.634000	0.89283	0.563000	0.77884	ACG		0.478	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			T	112733038	C	T	112733038	3	4	399	1	0	0	0	0	1	0	0	0	9479	536	19	1	1159	1	MERTK	2	112733038	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	51557845	112733038	130466335	13	21815											
ATF2	1386	genome.wustl.edu	37	2	175983049	175983049	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:175983049C>T	ENST00000264110.2	-	6	546	c.248G>A	c.(247-249)gGt>gAt	p.G83D	ATF2_ENST00000426833.3_Missense_Mutation_p.G65D|ATF2_ENST00000409833.1_Missense_Mutation_p.G83D|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_Missense_Mutation_p.G65D|ATF2_ENST00000392544.1_Missense_Mutation_p.G83D|ATF2_ENST00000409635.1_Missense_Mutation_p.G25D|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.G65D|ATF2_ENST00000538946.1_Missense_Mutation_p.G65D|ATF2_ENST00000345739.5_Missense_Mutation_p.G25D	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	83					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	ATTAAACAAACCCACTTCTTC	0.318																																					Pancreas(17;87 705 4534 15538 30988)											0			2											108	106	106					2																	175983049		2201	4298	6499	175691295	SO:0001583	missense	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.248G>A	2.37:g.175983049C>T	ENSP00000264110:p.Gly83Asp		175691295	A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	CCDS2262.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	4.999713|4.999713	0.93227|0.93227	.|.	.|.	ENSG00000115966|ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000437522;ENST00000409833|ENST00000435004	T;D;T;D;T;T;T;T;T|.	0.84442|.	1.47;-1.85;1.47;-1.85;1.47;1.47;1.47;1.47;1.47|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81908|0.81908	0.4922|0.4922	M|M	0.82132|0.82132	2.575|2.575	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;1.0;1.0;1.0|.	T|T	0.82018|0.82018	-0.0665|-0.0665	10|5	0.87932|.	D|.	0|.	-4.2547|-4.2547	19.6784|19.6784	0.95946|0.95946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	65;60;25;83|.	A4D7U4;B3KY57;Q3B7B7;P15336|.	.;.;.;ATF2_HUMAN|.	D|I	83;25;60;65;25;83;65;65;65;25;83|72	ENSP00000264110:G83D;ENSP00000340576:G25D;ENSP00000386326:G65D;ENSP00000387093:G25D;ENSP00000376327:G83D;ENSP00000407911:G65D;ENSP00000437952:G65D;ENSP00000443513:G65D;ENSP00000386526:G83D|.	ENSP00000264110:G83D|.	G|V	-|-	2|1	0|0	ATF2|ATF2	175691295|175691295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.724000|2.724000	0.93272|0.93272	0.585000|0.585000	0.79938|0.79938	GGT|GTT		0.318	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		T	175983049	C	T	175983049	3	4	399	1	0	0	0	0	1	0	0	0	1080	507	18	2	1305	2	ATF2	2	175983049	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	63250011	175983049	67216324	14	21816											
CALCRL	10203	genome.wustl.edu	37	2	188245195	188245195	+	Splice_Site	SNP	T	T	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:188245195T>A	ENST00000409998.1	-	8	1188	c.407A>T	c.(406-408)aAg>aTg	p.K136M	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Splice_Site_p.K136M|CALCRL_ENST00000392370.3_Splice_Site_p.K136M			Q16602	CALRL_HUMAN	calcitonin receptor-like	136					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATGACATACCTTCACTTTCTC	0.338																																																0			2											177	181	180					2																	188245195		2203	4300	6503	187953440	SO:0001630	splice_region_variant	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.408+1A>T	2.37:g.188245195T>A			187953440	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.523154	0.27211	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.38401	1.14;1.14;1.14	5.0	5.0	0.66597	GPCR, family 2, extracellular hormone receptor domain (1);	0.252823	0.33005	N	0.005381	T	0.31670	0.0804	L	0.40543	1.245	0.43110	D	0.994813	B	0.20671	0.047	B	0.21708	0.036	T	0.12630	-1.0540	10	0.54805	T	0.06	.	12.9704	0.58510	0.0:0.0:0.0:1.0	.	136	Q16602	CALRL_HUMAN	M	136	ENSP00000376177:K136M;ENSP00000386972:K136M;ENSP00000387190:K136M	ENSP00000376177:K136M	K	-	2	0	CALCRL	187953440	0.999000	0.42202	1.000000	0.80357	0.228000	0.25075	2.865000	0.48412	2.225000	0.72522	0.460000	0.39030	AAG		0.338	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	Missense_Mutation	A	188245195	T	A	188245195	5	1	399	1	0	0	0	0	0	0	1	0	2580	1623	56	5	1014	5	CALCRL	2	188245195	Splice_Site	SNP	T	TCGA-42-2582-01A-01D-1526-09	12262146	188245195	54954178	15	21817											
ABI2	10152	genome.wustl.edu	37	2	204292061	204292061	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:204292061C>T	ENST00000422511.2	+	11	1460	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	ABI2_ENST00000261018.7_Missense_Mutation_p.H296Y|ABI2_ENST00000430418.1_Missense_Mutation_p.H455Y|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.H504Y|ABI2_ENST00000261017.5_Missense_Mutation_p.H472Y|ABI2_ENST00000295851.5_Missense_Mutation_p.H510Y|ABI2_ENST00000261016.6_Missense_Mutation_p.H398Y			Q9NYB9	ABI2_HUMAN	abl-interactor 2	510	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GTCTATCATGCATTATTCTGA	0.448																																																0			2											158	129	139					2																	204292061		2203	4300	6503	204000306	SO:0001583	missense	10152			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1429C>T	2.37:g.204292061C>T	ENSP00000396249:p.His477Tyr		204000306	B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37		.	.	.	.	.	.	.	.	.	.	C	32	5.173242	0.94807	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000422511;ENST00000261018	T;T;T;T;T;T;T	0.39787	1.2;1.06;1.37;1.2;1.08;1.21;1.06	6.03	6.03	0.97812	Src homology-3 domain (1);	0.091173	0.85682	D	0.000000	T	0.62865	0.2463	L	0.52573	1.65	0.80722	D	1	D;D;D;D;P;D;P;P;D	0.76494	0.999;0.997;0.993;0.997;0.908;0.981;0.55;0.851;0.998	D;D;D;D;D;D;P;P;D	0.87578	0.998;0.995;0.964;0.98;0.922;0.932;0.502;0.838;0.997	T	0.61579	-0.7034	10	0.87932	D	0	-22.6194	20.5568	0.99304	0.0:1.0:0.0:0.0	.	323;374;235;387;504;455;398;510;472	B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;.;.;.;.;ABI2_HUMAN;.	Y	510;472;455;504;398;477;296	ENSP00000295851:H510Y;ENSP00000261017:H472Y;ENSP00000408898:H455Y;ENSP00000391433:H504Y;ENSP00000261016:H398Y;ENSP00000396249:H477Y;ENSP00000261018:H296Y	ENSP00000261016:H398Y	H	+	1	0	ABI2	204000306	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.770000	0.85390	2.861000	0.98227	0.655000	0.94253	CAT		0.448	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		T	204292061	C	T	204292061	3	4	399	1	0	0	0	0	1	0	0	0	89	710	25	2	1452	2	ABI2	2	204292061	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	16046866	204292061	38907312	16	21818											
C2orf67	151050	genome.wustl.edu	37	2	211019041	211019041	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:211019041A>G	ENST00000281772.9	-	2	529	c.266T>C	c.(265-267)tTa>tCa	p.L89S	KANSL1L_ENST00000452086.1_Missense_Mutation_p.L89S|KANSL1L_ENST00000418791.1_Missense_Mutation_p.L89S|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Missense_Mutation_p.L89S	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	89						histone acetyltransferase complex (GO:0000123)											GTGTTTATTTAATGTAGAATT	0.318																																																0			2											77	79	79					2																	211019041		2200	4300	6500	210727286	SO:0001583	missense	151050			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.266T>C	2.37:g.211019041A>G	ENSP00000281772:p.Leu89Ser		210727286	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419652	0.62622	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.85	5.85	0.93711	.	0.106626	0.40469	N	0.001098	T	0.62588	0.2440	L	0.29908	0.895	0.34580	D	0.714414	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.74348	0.975;0.948;0.983;0.983	T	0.73626	-0.3923	9	0.87932	D	0	.	16.2285	0.82315	1.0:0.0:0.0:0.0	.	89;89;89;89	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	S	89	.	ENSP00000281772:L89S	L	-	2	0	C2orf67	210727286	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.404000	0.73268	2.235000	0.73313	0.460000	0.39030	TTA		0.318	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		G	211019041	A	G	211019041	3	3	399	1	0	0	0	0	1	0	0	0	2186	372	13	4	2753	4	C2orf67	2	211019041	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09	6726980	211019041	32180332	17	21819											
CYP27A1	1593	genome.wustl.edu	37	2	219679138	219679138	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:219679138T>C	ENST00000258415.4	+	7	1647	c.1220T>C	c.(1219-1221)aTa>aCa	p.I407T		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	407					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TCCCGGATCATAGAAAAGGAA	0.542																																																0			2											109	114	112					2																	219679138		2203	4300	6503	219387382	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1220T>C	2.37:g.219679138T>C	ENSP00000258415:p.Ile407Thr		219387382	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651346	0.29336	.	.	ENSG00000135929	ENST00000258415	T	0.66280	-0.2	5.6	-5.28	0.02755	.	0.819328	0.11420	N	0.565878	T	0.33381	0.0861	N	0.11364	0.135	0.09310	N	1	B	0.19817	0.039	B	0.25759	0.063	T	0.35351	-0.9792	10	0.11794	T	0.64	-3.811	7.9767	0.30159	0.2196:0.5145:0.0:0.2659	.	407	Q02318	CP27A_HUMAN	T	407	ENSP00000258415:I407T	ENSP00000258415:I407T	I	+	2	0	CYP27A1	219387382	0.000000	0.05858	0.000000	0.03702	0.562000	0.35680	0.357000	0.20199	-0.872000	0.04037	0.459000	0.35465	ATA		0.542	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			C	219679138	T	C	219679138	3	2	399	1	0	0	0	0	1	0	0	0	4158	1406	49	4	1246	4	CYP27A1	2	219679138	Missense_Mutation	SNP	T	TCGA-42-2582-01A-01D-1526-09	8660097	219679138	23520235	18	21820											
CCDC108	255101	genome.wustl.edu	37	2	219878017	219878017	+	Silent	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:219878017G>A	ENST00000341552.5	-	24	4004	c.3921C>T	c.(3919-3921)atC>atT	p.I1307I	CCDC108_ENST00000441968.1_Silent_p.I1307I|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.I1307I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1307						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGAATGGGGATGAACTGGT	0.502																																																0			2											140	112	122					2																	219878017		2202	4300	6502	219586261	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3921C>T	2.37:g.219878017G>A			219586261	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	CCDS2430.2																																																																																				0.502	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		A	219878017	G	A	219878017	2	1	399	1	0	0	0	0	0	0	0	1	2743	1164	41	2		2	CCDC108	2	219878017	Silent	SNP	G	TCGA-42-2582-01A-01D-1526-09	198879	219878017	23321356	19	21821											
ANO7	50636	genome.wustl.edu	37	2	242162677	242162677	+	Missense_Mutation	SNP	G	G	C	rs537399613		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr2:242162677G>C	ENST00000274979.8	+	22	2663	c.2560G>C	c.(2560-2562)Gtc>Ctc	p.V854L	ANO7_ENST00000402430.3_Missense_Mutation_p.V853L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	854					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCTTCGTCATTGTGTT	0.567																																																0			2											186	158	167					2																	242162677		2203	4300	6503	241811350	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2560G>C	2.37:g.242162677G>C	ENSP00000274979:p.Val854Leu		241811350	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.04|17.04	3.287995|3.287995	0.59976|0.59976	.|.	.|.	ENSG00000146205|ENSG00000146205	ENST00000451047|ENST00000274979;ENST00000402430	.|T;T	.|0.63913	.|-0.07;-0.07	3.38|3.38	1.44|1.44	0.22558|0.22558	.|.	.|0.579135	.|0.15287	.|U	.|0.270381	T|T	0.60728|0.60728	0.2291|0.2291	M|M	0.64676|0.64676	1.99|1.99	0.32241|0.32241	N|N	0.572681|0.572681	.|P	.|0.50943	.|0.94	.|P	.|0.49561	.|0.615	T|T	0.65907|0.65907	-0.6054|-0.6054	5|10	.|0.66056	.|D	.|0.02	.|.	4.1173|4.1173	0.10088|0.10088	0.4206:0.1779:0.4015:0.0|0.4206:0.1779:0.4015:0.0	.|.	.|854	.|Q6IWH7	.|ANO7_HUMAN	P|L	166|854;853	.|ENSP00000274979:V854L;ENSP00000385418:V853L	.|ENSP00000274979:V854L	R|V	+|+	2|1	0|0	ANO7|ANO7	241811350|241811350	0.000000|0.000000	0.05858|0.05858	0.873000|0.873000	0.34254|0.34254	0.811000|0.811000	0.45836|0.45836	-0.150000|-0.150000	0.10189|0.10189	0.522000|0.522000	0.28464|0.28464	0.467000|0.467000	0.42956|0.42956	CGT|GTC		0.567	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		C	242162677	G	C	242162677	3	2	399	1	0	0	0	0	1	0	0	0	702	1145	40	3	2718	3	ANO7	2	242162677	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	22284660	242162677	1036696	20	21822											
SEC13	6396	genome.wustl.edu	37	3	10345775	10345775	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:10345775C>G	ENST00000350697.3	-	8	915	c.790G>C	c.(790-792)Gtg>Ctg	p.V264L	SEC13_ENST00000337354.4_Missense_Mutation_p.V267L|SEC13_ENST00000397117.1_Missense_Mutation_p.V250L|SEC13_ENST00000492602.1_5'UTR|SEC13_ENST00000383801.2_Missense_Mutation_p.V310L|SEC13_ENST00000397109.3_Missense_Mutation_p.V250L	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	264					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGCCACACCACATCGTTGAAC	0.502																																																0			3											173	114	134					3																	10345775		2203	4300	6503	10320775	SO:0001583	missense	6396				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.790G>C	3.37:g.10345775C>G	ENSP00000312122:p.Val264Leu		10320775	A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367892	0.61513	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801	T;T;T;T;T	0.81247	-0.13;-0.13;-0.13;-1.47;-1.47	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88209	0.6375	M	0.88906	2.99	0.80722	D	1	P;P;P;D	0.52996	0.703;0.523;0.868;0.957	B;B;P;P	0.52793	0.292;0.128;0.585;0.709	D	0.89504	0.3766	10	0.46703	T	0.11	.	16.137	0.81492	0.0:1.0:0.0:0.0	.	264;250;310;264	E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;SEC13_HUMAN	L	250;267;264;250;310	ENSP00000380298:V250L;ENSP00000336566:V267L;ENSP00000312122:V264L;ENSP00000380306:V250L;ENSP00000373312:V310L	ENSP00000336566:V267L	V	-	1	0	SEC13	10320775	1.000000	0.71417	0.948000	0.38648	0.904000	0.53231	7.691000	0.84191	2.392000	0.81423	0.591000	0.81541	GTG		0.502	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			G	10345775	C	G	10345775	3	3	399	1	0	0	0	0	1	0	0	0	13983	478	17	3	186	3	SEC13	3	10345775	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09		10345775	187676655	21	21823											
NKTR	4820	genome.wustl.edu	37	3	42680198	42680198	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:42680198A>G	ENST00000232978.8	+	13	3190	c.3002A>G	c.(3001-3003)aAa>aGa	p.K1001R	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1001	Arg/Lys-rich (basic).				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAAGGGAAAAAAGACAAAAAG	0.398																																																0			3											60	64	63					3																	42680198		2203	4300	6503	42655202	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3002A>G	3.37:g.42680198A>G	ENSP00000232978:p.Lys1001Arg		42655202		Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372928	0.42105	.	.	ENSG00000114857	ENST00000232978	T	0.16743	2.32	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.74881	2.28	0.80722	D	1	P;P	0.51537	0.946;0.615	B;B	0.43155	0.41;0.1	T	0.06356	-1.0831	10	0.44086	T	0.13	-22.7367	15.0398	0.71781	1.0:0.0:0.0:0.0	.	701;1001	Q6M1B8;P30414	.;NKTR_HUMAN	R	1001	ENSP00000232978:K1001R	ENSP00000232978:K1001R	K	+	2	0	NKTR	42655202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.794000	0.62482	2.096000	0.63516	0.528000	0.53228	AAA		0.398	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		G	42680198	A	G	42680198	3	3	399	1	0	0	0	0	1	0	0	0	10448	14	1	4	3048	4	NKTR	3	42680198	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09	32334423	42680198	155342232	22	21824											
ABHD14A	25864	genome.wustl.edu	37	3	52014934	52014934	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:52014934A>T	ENST00000273596.3	+	5	784	c.716A>T	c.(715-717)cAc>cTc	p.H239L	ACY1_ENST00000458031.2_Intron|ACY1_ENST00000494103.1_5'Flank|ABHD14A_ENST00000491470.1_Missense_Mutation_p.T122S|ACY1_ENST00000476854.1_5'Flank|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000404366.2_5'Flank|ACY1_ENST00000476351.1_5'Flank|ABHD14B_ENST00000483233.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	239						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCCCAACCACTCTGTGGTG	0.582																																																0			3											118	94	102					3																	52014934		2203	4300	6503	51989974	SO:0001583	missense	25864			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.716A>T	3.37:g.52014934A>T	ENSP00000273596:p.His239Leu		51989974	Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	CCDS2843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.09|14.09	2.430950|2.430950	0.43122|0.43122	.|.	.|.	ENSG00000248487|ENSG00000248487	ENST00000273596;ENST00000360889;ENST00000452452|ENST00000491470	T|T	0.21543|0.32515	2.0|1.45	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45438|0.45438	0.1342|0.1342	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	P|.	0.47545|.	0.897|.	P|.	0.48488|.	0.579|.	T|T	0.46119|0.46119	-0.9214|-0.9214	10|7	0.20046|0.87932	T|D	0.44|0	-27.4174|-27.4174	10.5185|10.5185	0.44905|0.44905	0.838:0.162:0.0:0.0|0.838:0.162:0.0:0.0	.|.	239|.	Q9BUJ0|.	ABHEA_HUMAN|.	L|S	239;197;173|122	ENSP00000273596:H239L|ENSP00000418824:T122S	ENSP00000273596:H239L|ENSP00000418824:T122S	H|T	+|+	2|1	0|0	ABHD14A|ABHD14A	51989974|51989974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	6.124000|6.124000	0.71620|0.71620	2.056000|2.056000	0.61249|0.61249	0.379000|0.379000	0.24179|0.24179	CAC|ACT		0.582	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		T	52014934	A	T	52014934	3	4	399	1	0	0	0	0	1	0	0	0	79	159	6	5	734	5	ABHD14A	3	52014934	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09	9334736	52014934	146007496	23	21825											
MME	4311	genome.wustl.edu	37	3	154834270	154834270	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:154834270G>A	ENST00000460393.1	+	5	481	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	MME_ENST00000493237.1_Missense_Mutation_p.V121I|MME_ENST00000360490.2_Missense_Mutation_p.V121I|MME_ENST00000462745.1_Missense_Mutation_p.V121I|MME_ENST00000492661.1_Missense_Mutation_p.V121I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	121					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TATTTCAGATGTCCTTCAAGA	0.328																																																0			3											84	81	82					3																	154834270		2203	4300	6503	156316964	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.361G>A	3.37:g.154834270G>A	ENSP00000418525:p.Val121Ile		156316964	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556077	0.86231	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000462837	T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	6.16	6.16	0.99307	Peptidase M13 (1);	0.176430	0.49916	N	0.000139	T	0.75324	0.3834	L	0.37800	1.135	0.58432	D	0.999992	D	0.53151	0.958	P	0.53861	0.736	T	0.74435	-0.3666	10	0.54805	T	0.06	-27.5891	20.8598	0.99761	0.0:0.0:1.0:0.0	.	121	P08473	NEP_HUMAN	I	121	ENSP00000420389:V121I;ENSP00000418525:V121I;ENSP00000420101:V121I;ENSP00000419653:V121I;ENSP00000417079:V121I;ENSP00000353679:V121I;ENSP00000417595:V121I	ENSP00000353679:V121I	V	+	1	0	MME	156316964	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.703000	0.61824	2.937000	0.99478	0.650000	0.86243	GTC		0.328	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		A	154834270	G	A	154834270	3	1	399	1	0	0	0	0	1	0	0	0	9645	1377	48	2	375	2	MME	3	154834270	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	102819336	154834270	43188160	24	21826											
SKIL	6498	genome.wustl.edu	37	3	170078429	170078429	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:170078429C>G	ENST00000458537.3	+	1	1019	c.310C>G	c.(310-312)Cca>Gca	p.P104A	SKIL_ENST00000413427.2_Missense_Mutation_p.P104A|SKIL_ENST00000259119.4_Missense_Mutation_p.P104A|SKIL_ENST00000426052.2_Missense_Mutation_p.P84A	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	104					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTGGGTGGACCAGCAGCATT	0.478																																																0			3											154	160	158					3																	170078429		2203	4300	6503	171561123	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.310C>G	3.37:g.170078429C>G	ENSP00000415243:p.Pro104Ala		171561123	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019563	0.75275	.	.	ENSG00000136603	ENST00000476188;ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.74881	2.28	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.68142	-0.5487	10	0.66056	D	0.02	-15.566	20.3137	0.98647	0.0:1.0:0.0:0.0	.	104;104	P12757-3;P12757	.;SKIL_HUMAN	A	104;104;84;104;104	ENSP00000417670:P104A;ENSP00000259119:P104A;ENSP00000406520:P84A;ENSP00000400193:P104A;ENSP00000415243:P104A	ENSP00000259119:P104A	P	+	1	0	SKIL	171561123	1.000000	0.71417	0.983000	0.44433	0.583000	0.36354	7.412000	0.80091	2.814000	0.96858	0.585000	0.79938	CCA		0.478	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		G	170078429	C	G	170078429	3	3	399	1	0	0	0	0	1	0	0	0	14361	507	18	3	312	3	SKIL	3	170078429	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	15244159	170078429	27944001	25	21827											
TTC14	151613	genome.wustl.edu	37	3	180321112	180321112	+	Splice_Site	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:180321112G>T	ENST00000296015.4	+	3	618		c.e3+1		RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000412756.2_Splice_Site|TTC14_ENST00000382584.4_Splice_Site	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14								RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAAATCACAGTAAGTTATTT	0.363																																																0			3											132	123	126					3																	180321112		2203	4300	6503	181803806	SO:0001630	splice_region_variant	151613			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.486+1G>T	3.37:g.180321112G>T			181803806	G5E9X0|Q6UWJ7|Q8TF22	Splice_Site	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219725	0.79464	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8449	0.96704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC14	181803806	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.188000	0.94921	2.680000	0.91292	0.655000	0.94253	.		0.363	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	Intron	T	180321112	G	T	180321112	5	4	399	1	0	0	0	0	0	0	1	0	16681	1043	36	3	497	3	TTC14	3	180321112	Splice_Site	SNP	G	TCGA-42-2582-01A-01D-1526-09	10242683	180321112	17701318	26	21828											
MAGEF1	64110	genome.wustl.edu	37	3	184428929	184428929	+	Silent	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr3:184428929C>T	ENST00000317897.3	-	1	907	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	227	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GAGGCACCCGCCTGTAACTGA	0.502																																																0			3											59	68	65					3																	184428929		2203	4300	6503	185911623	SO:0001819	synonymous_variant	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.681G>A	3.37:g.184428929C>T			185911623	Q9H215	Silent	SNP	ENST00000317897.3	37	CCDS3269.1																																																																																				0.502	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		T	184428929	C	T	184428929	2	4	399	1	0	0	0	0	0	0	0	1	9187	738	26	2		2	MAGEF1	3	184428929	Silent	SNP	C	TCGA-42-2582-01A-01D-1526-09	4107817	184428929	13593501	27	21829											
GABRA4	2557	genome.wustl.edu	37	4	46976321	46976321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr4:46976321C>A	ENST00000264318.3	-	6	1631	c.649G>T	c.(649-651)Gag>Tag	p.E217*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	217					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					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)	CTGGAAGACTCCTTCGGAACT	0.403																																					Ovarian(6;283 369 8234 12290 33402)											0			4											122	112	116					4																	46976321		2203	4300	6503	46671078	SO:0001587	stop_gained	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.649G>T	4.37:g.46976321C>A	ENSP00000264318:p.Glu217*		46671078	Q8IYR7	Nonsense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	46	12.826595	0.99699	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.22	0.89898	0.0:1.0:0.0:0.0	.	.	.	.	X	217	.	ENSP00000264318:E217X	E	-	1	0	GABRA4	46671078	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.774000	0.95407	0.650000	0.86243	GAG		0.403	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			A	46976321	C	A	46976321	4	1	399	1	0	0	0	0	0	1	0	0	6163	864	30	3	1031	3	GABRA4	4	46976321	Nonsense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09		46976321	144177955	28	21830											
CSN2	1447	genome.wustl.edu	37	4	70826669	70826669	+	Silent	SNP	T	T	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr4:70826669T>G	ENST00000353151.3	-	1	56	c.45A>C	c.(43-45)gcA>gcC	p.A15A		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ATACCTCCCTTGCAAGAGCAA	0.388																																																0			4											90	89	89					4																	70826669		2203	4300	6503	70861258	SO:0001819	synonymous_variant	1447			X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.45A>C	4.37:g.70826669T>G			70861258	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Silent	SNP	ENST00000353151.3	37	CCDS3532.1																																																																																				0.388	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			G	70826669	T	G	70826669	2	3	399	1	0	0	0	0	0	0	0	1	3948	1799	63	5		5	CSN2	4	70826669	Silent	SNP	T	TCGA-42-2582-01A-01D-1526-09	23850348	70826669	120327607	29	21831											
PALLD	23022	genome.wustl.edu	37	4	169602534	169602534	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr4:169602534C>G	ENST00000505667.1	+	4	1312	c.1139C>G	c.(1138-1140)gCt>gGt	p.A380G	PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.A380G|PALLD_ENST00000333488.4_Missense_Mutation_p.A257G			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	380					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAATCAAGAGCTGGAGCTATG	0.388									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											0			4											96	92	93					4																	169602534		2203	4300	6503	169839109	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1139C>G	4.37:g.169602534C>G	ENSP00000425556:p.Ala380Gly		169839109	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740836	0.30865	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.66815	-0.13;0.15;-0.23;-0.09	5.72	3.98	0.46160	.	0.570901	0.12977	U	0.423610	T	0.45135	0.1327	N	0.22421	0.69	0.80722	D	1	P;B	0.35328	0.495;0.049	B;B	0.24974	0.057;0.028	T	0.15954	-1.0419	10	0.21014	T	0.42	.	7.676	0.28486	0.132:0.7305:0.0:0.1374	.	380;380	B7ZMM5;B2RTX2	.;.	G	380;380;359;257	ENSP00000261509:A380G;ENSP00000425556:A380G;ENSP00000423063:A359G;ENSP00000328945:A257G	ENSP00000261509:A380G	A	+	2	0	PALLD	169839109	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	2.329000	0.43876	0.751000	0.32900	0.455000	0.32223	GCT		0.388	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		G	169602534	C	G	169602534	3	3	399	1	0	0	0	0	1	0	0	0	11407	797	28	3	1149	3	PALLD	4	169602534	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	98775865	169602534	21551742	30	21832											
IL7R	3575	genome.wustl.edu	37	5	35871304	35871304	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr5:35871304A>T	ENST00000303115.3	+	4	655	c.526A>T	c.(526-528)Aac>Tac	p.N176Y	IL7R_ENST00000506850.1_Missense_Mutation_p.N176Y|IL7R_ENST00000343305.4_Missense_Mutation_p.N176Y	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	176	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAAGGATGAAAACAAATGGAC	0.368			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0			5											67	67	67					5																	35871304		2203	4300	6503	35907061	SO:0001583	missense	3575			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.526A>T	5.37:g.35871304A>T	ENSP00000306157:p.Asn176Tyr		35907061	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525139	0.27299	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	T;T;T	0.75367	-0.93;-0.93;-0.93	5.41	1.54	0.23209	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.518711	0.20781	N	0.085781	T	0.61098	0.2320	L	0.51422	1.61	0.09310	N	1	P;P	0.51933	0.764;0.949	B;B	0.39840	0.168;0.311	T	0.56792	-0.7920	10	0.54805	T	0.06	2.9797	4.2989	0.10915	0.6299:0.1701:0.2:0.0	.	176;176	D6RGV2;P16871	.;IL7RA_HUMAN	Y	176	ENSP00000306157:N176Y;ENSP00000345819:N176Y;ENSP00000421207:N176Y	ENSP00000306157:N176Y	N	+	1	0	IL7R	35907061	0.025000	0.19082	0.036000	0.18154	0.757000	0.42996	0.078000	0.14761	0.332000	0.23536	0.533000	0.62120	AAC		0.368	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			T	35871304	A	T	35871304	3	4	399	1	0	0	0	0	1	0	0	0	7705	14	1	5	540	5	IL7R	5	35871304	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09		35871304	145043956	31	21833											
KDM3B	51780	genome.wustl.edu	37	5	137771377	137771377	+	Silent	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr5:137771377G>A	ENST00000314358.5	+	24	5474	c.5274G>A	c.(5272-5274)ctG>ctA	p.L1758L	KDM3B_ENST00000394866.1_Silent_p.L1414L|KDM3B_ENST00000542866.1_Silent_p.L790L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1758					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AATCCAAACTGGCAAGGTCCT	0.493																																																0			5											93	77	82					5																	137771377		2203	4300	6503	137799276	SO:0001819	synonymous_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.5274G>A	5.37:g.137771377G>A			137799276	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	CCDS34242.1																																																																																				0.493	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		A	137771377	G	A	137771377	2	1	399	1	0	0	0	0	0	0	0	1	8127	1335	47	2		2	KDM3B	5	137771377	Silent	SNP	G	TCGA-42-2582-01A-01D-1526-09	101900073	137771377	43143883	32	21834											
MACC1	346389	genome.wustl.edu	37	7	20198696	20198696	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:20198696G>T	ENST00000400331.5	-	5	1596	c.1288C>A	c.(1288-1290)Cca>Aca	p.P430T	MACC1_ENST00000589011.1_Missense_Mutation_p.P430T|MACC1_ENST00000332878.4_Missense_Mutation_p.P430T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	430					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AAATCTTGTGGCTTGTCAAGT	0.373																																																0			7											49	46	47					7																	20198696		2202	4299	6501	20165221	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1288C>A	7.37:g.20198696G>T	ENSP00000383185:p.Pro430Thr		20165221	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452073	0.43531	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.12361	2.69;2.69	5.72	5.72	0.89469	.	0.180736	0.51477	D	0.000083	T	0.32346	0.0826	M	0.80746	2.51	0.40594	D	0.981511	D	0.63880	0.993	P	0.53954	0.738	T	0.08432	-1.0722	10	0.62326	D	0.03	-14.07	14.6826	0.69028	0.0:0.0:0.8549:0.1451	.	430	Q6ZN28	MACC1_HUMAN	T	430	ENSP00000383185:P430T;ENSP00000328410:P430T	ENSP00000328410:P430T	P	-	1	0	MACC1	20165221	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	4.683000	0.61679	2.689000	0.91719	0.591000	0.81541	CCA		0.373	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		T	20198696	G	T	20198696	3	4	399	1	0	0	0	0	1	0	0	0	9143	1203	42	3	1282	3	MACC1	7	20198696	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09		20198696	138939967	33	21835											
PDE1C	5137	genome.wustl.edu	37	7	31862710	31862710	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:31862710C>G	ENST00000396191.1	-	14	2014	c.1559G>C	c.(1558-1560)aGa>aCa	p.R520T	PDE1C_ENST00000396184.3_Missense_Mutation_p.R520T|PDE1C_ENST00000321453.7_Missense_Mutation_p.R520T|PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Missense_Mutation_p.R520T|PDE1C_ENST00000396193.1_Missense_Mutation_p.R580T	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	520	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GGCCCTCCATCTCTCCCGATT	0.463																																																0			7											201	175	184					7																	31862710		2203	4300	6503	31829235	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1559G>C	7.37:g.31862710C>G	ENSP00000379494:p.Arg520Thr		31829235	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233331	0.39498	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73047	-0.71;-0.7;-0.7;-0.68;-0.68	5.79	4.91	0.64330	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.594286	0.19153	N	0.121383	T	0.56659	0.2000	L	0.27053	0.805	0.30959	N	0.723915	B;B;B	0.15719	0.004;0.014;0.002	B;B;B	0.21917	0.037;0.006;0.001	T	0.58891	-0.7556	10	0.62326	D	0.03	.	7.1892	0.25816	0.0:0.7172:0.0:0.2828	.	520;580;520	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	T	580;520;520;520;520	ENSP00000379496:R580T;ENSP00000379494:R520T;ENSP00000318105:R520T;ENSP00000379487:R520T;ENSP00000379485:R520T	ENSP00000318105:R520T	R	-	2	0	PDE1C	31829235	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.365000	0.52335	1.458000	0.47871	0.563000	0.77884	AGA		0.463	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			G	31862710	C	G	31862710	3	3	399	1	0	0	0	0	1	0	0	0	11635	913	32	3	361	3	PDE1C	7	31862710	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	11664014	31862710	127275953	34	21836											
SRI	6717	genome.wustl.edu	37	7	87835800	87835800	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:87835800C>T	ENST00000265729.2	-	8	642	c.590G>A	c.(589-591)aGt>aAt	p.S197N	SRI_ENST00000419179.1_Missense_Mutation_p.S157N|SRI_ENST00000490437.1_Missense_Mutation_p.S154N|SRI_ENST00000394641.3_Missense_Mutation_p.S182N	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	197					action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					GATTTAAACACTCATGACACA	0.383																																																0			7											128	121	123					7																	87835800		2203	4300	6503	87673736	SO:0001583	missense	6717			M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"EF-hand domain containing"	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.590G>A	7.37:g.87835800C>T	ENSP00000265729:p.Ser197Asn		87673736	A8MTH6|B4DKK2|D6W5Q0	Missense_Mutation	SNP	ENST00000265729.2	37	CCDS5612.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862286	0.32884	.	.	ENSG00000075142	ENST00000265729;ENST00000419179;ENST00000490437;ENST00000394641	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.62	4.74	0.60224	EF-hand-like domain (1);	0.233852	0.41001	N	0.000967	T	0.37999	0.1024	L	0.48935	1.535	0.80722	D	1	B;B;B	0.17465	0.022;0.0;0.01	B;B;B	0.20955	0.032;0.004;0.004	T	0.14172	-1.0482	10	0.34782	T	0.22	.	14.0058	0.64463	0.0:0.8178:0.1822:0.0	.	157;182;197	B4DHQ6;A8MTH6;P30626	.;.;SORCN_HUMAN	N	197;157;154;182	ENSP00000265729:S197N;ENSP00000397609:S157N;ENSP00000418512:S154N;ENSP00000378137:S182N	ENSP00000265729:S197N	S	-	2	0	SRI	87673736	1.000000	0.71417	0.908000	0.35775	0.638000	0.38207	3.781000	0.55394	1.385000	0.46445	0.655000	0.94253	AGT		0.383	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		T	87835800	C	T	87835800	3	4	399	1	0	0	0	0	1	0	0	0	15151	565	20	2	10	2	SRI	7	87835800	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	55973090	87835800	71302863	35	21837											
CALCR	799	genome.wustl.edu	37	7	93116281	93116281	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:93116281A>G	ENST00000394441.1	-	2	328	c.13T>C	c.(13-15)Ttt>Ctt	p.F5L	CALCR_ENST00000359558.2_Missense_Mutation_p.F23L|MIR489_ENST00000384923.1_RNA|CALCR_ENST00000426151.1_Missense_Mutation_p.F5L|CALCR_ENST00000360249.4_Missense_Mutation_p.F5L|CALCR_ENST00000421592.1_Missense_Mutation_p.F5L	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	23					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CGGCTTGTAAATGTGAACCTC	0.313																																																0			7											99	106	104					7																	93116281		2203	4300	6503	92954217	SO:0001583	missense	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.13T>C	7.37:g.93116281A>G	ENSP00000377959:p.Phe5Leu		92954217	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	0.350	-0.945396	0.02304	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.41758	0.99;1.0;1.0;1.08;1.08	3.93	-6.42	0.01932	.	.	.	.	.	T	0.09642	0.0237	N	0.01188	-0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23440	-1.0188	9	0.02654	T	1	.	4.0517	0.09798	0.3949:0.0:0.1967:0.4084	.	23;5	F5H605;A4D1G6	.;.	L	23;5;5;5;5;5	ENSP00000352561:F23L;ENSP00000353385:F5L;ENSP00000399552:F5L;ENSP00000377959:F5L;ENSP00000389295:F5L	ENSP00000352561:F23L	F	-	1	0	CALCR	92954217	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.707000	0.01893	-1.380000	0.02115	0.533000	0.62120	TTT		0.313	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		G	93116281	A	G	93116281	3	3	399	1	0	0	0	0	1	0	0	0	2579	101	4	4	1511	4	CALCR	7	93116281	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09	5280481	93116281	66022382	36	21838											
SLC12A9	56996	genome.wustl.edu	37	7	100456550	100456550	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:100456550G>A	ENST00000354161.3	+	6	976	c.851G>A	c.(850-852)gGg>gAg	p.G284E	SLC12A9_ENST00000428758.1_Missense_Mutation_p.G284E|SLC12A9_ENST00000415287.1_Missense_Mutation_p.G195E|SLC12A9_ENST00000275729.3_Missense_Mutation_p.G195E|SLC12A9_ENST00000540482.1_Missense_Mutation_p.G284E	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	284					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATCATGGCTGGGGCCAACATG	0.607																																																0			7											80	65	70					7																	100456550		2203	4300	6503	100294486	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.851G>A	7.37:g.100456550G>A	ENSP00000275730:p.Gly284Glu		100294486	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804594	0.90623	.	.	ENSG00000146828	ENST00000540482;ENST00000418037;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675	D;D;D;D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24;-5.24;-5.24;-5.24	5.04	5.04	0.67666	Amino acid permease domain (1);	0.000000	0.64402	D	0.000001	D	0.99393	0.9786	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	D	0.98530	1.0627	10	0.87932	D	0	.	15.8635	0.79043	0.0:0.0:1.0:0.0	.	195;284	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	E	284;20;284;195;195;284;92	ENSP00000443702:G284E;ENSP00000406560:G20E;ENSP00000408301:G284E;ENSP00000275729:G195E;ENSP00000413796:G195E;ENSP00000275730:G284E;ENSP00000410692:G92E	ENSP00000275729:G195E	G	+	2	0	SLC12A9	100294486	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.628000	0.98415	2.320000	0.78422	0.478000	0.44815	GGG		0.607	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		A	100456550	G	A	100456550	3	1	399	1	0	0	0	0	1	0	0	0	14393	1232	43	2	869	2	SLC12A9	7	100456550	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	7340269	100456550	58682113	37	21839											
BCAP29	55973	genome.wustl.edu	37	7	107258898	107258898	+	3'UTR	SNP	T	T	A	rs550938616		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:107258898T>A	ENST00000005259.4	+	0	1155				BCAP29_ENST00000465919.1_3'UTR|BCAP29_ENST00000379117.2_3'UTR|BCAP29_ENST00000379119.2_Missense_Mutation_p.Y299N|BCAP29_ENST00000445771.2_Missense_Mutation_p.Y299N|BCAP29_ENST00000494086.1_3'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AAAAATGCACTATGACCGGTT	0.289																																																0			7											55	57	56					7																	107258898		2203	4293	6496	107046134	SO:0001624	3_prime_UTR_variant	55973				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.*90T>A	7.37:g.107258898T>A			107046134	G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	T	7.889	0.731913	0.15507	.	.	ENSG00000075790	ENST00000445771;ENST00000379119	.	.	.	3.97	0.192	0.15134	.	.	.	.	.	T	0.17365	0.0417	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.22601	0.04	T	0.19844	-1.0293	8	0.87932	D	0	.	6.1157	0.20126	0.0:0.337:0.0:0.663	.	299	G5E9L4	.	N	299	.	ENSP00000368414:Y299N	Y	+	1	0	BCAP29	107046134	0.009000	0.17119	0.000000	0.03702	0.031000	0.12232	0.889000	0.28282	-0.121000	0.11787	-0.250000	0.11733	TAT		0.289	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		A	107258898	T	A	107258898	1	1	399	0	1	0	0	0	0	0	0	0	1346	1522	53	5		5	BCAP29	7	107258898	3'UTR	SNP	T	TCGA-42-2582-01A-01D-1526-09	6802348	107258898	51879765	38	21840											
FEZF1	389549	genome.wustl.edu	37	7	121943919	121943919	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr7:121943919G>T	ENST00000442488.2	-	1	640	c.573C>A	c.(571-573)caC>caA	p.H191Q	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Intron|FEZF1_ENST00000331178.4_Missense_Mutation_p.H191Q|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	191					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTGGCTGCGGGTGCAAAGGGG	0.587																																																0			7											28	30	30					7																	121943919		2203	4300	6503	121731155	SO:0001583	missense	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.573C>A	7.37:g.121943919G>T	ENSP00000411145:p.His191Gln		121731155	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933503	0.34096	.	.	ENSG00000128610	ENST00000442488;ENST00000331178	T;T	0.05925	3.37;3.48	4.65	1.5	0.22942	.	0.045781	0.85682	D	0.000000	T	0.03477	0.0100	N	0.12182	0.205	0.38780	D	0.954747	B	0.14438	0.01	B	0.09377	0.004	T	0.42531	-0.9446	10	0.48119	T	0.1	-21.1413	7.5384	0.27723	0.2426:0.1701:0.5872:0.0	.	191	A0PJY2	FEZF1_HUMAN	Q	191	ENSP00000411145:H191Q;ENSP00000332777:H191Q	ENSP00000332777:H191Q	H	-	3	2	FEZF1	121731155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.542000	0.23222	0.542000	0.28846	0.555000	0.69702	CAC		0.587	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		T	121943919	G	T	121943919	3	4	399	1	0	0	0	0	1	0	0	0	5825	1252	44	3	870	3	FEZF1	7	121943919	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	14685021	121943919	37194744	39	21841											
INSL6	11172	genome.wustl.edu	37	9	5185596	5185596	+	Silent	SNP	G	G	T	rs373690238		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr9:5185596G>T	ENST00000381641.3	-	1	72	c.7C>A	c.(7-9)Cgg>Agg	p.R3R		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	3					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.R3W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CGGAGGAGCCGCGGCATCCCT	0.667																																																1	Substitution - Missense(1)	large_intestine(1)	9											26	24	24					9																	5185596		2201	4300	6501	5175596	SO:0001819	synonymous_variant	11172			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.7C>A	9.37:g.5185596G>T			5175596	A0AVS0|Q9NS16	Silent	SNP	ENST00000381641.3	37	CCDS6458.1																																																																																				0.667	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		T	5185596	G	T	5185596	2	4	399	1	0	0	0	0	0	0	0	1	7770	1086	38	3		3	INSL6	9	5185596	Silent	SNP	G	TCGA-42-2582-01A-01D-1526-09		5185596	136027835	40	21842											
PTPRD	5789	genome.wustl.edu	37	9	8317907	8317907	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr9:8317907C>A	ENST00000381196.4	-	43	6249	c.5706G>T	c.(5704-5706)gaG>gaT	p.E1902D	PTPRD_ENST00000360074.4_Missense_Mutation_p.E1889D|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1880D|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1496D|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1495D|PTPRD_ENST00000397617.3_Missense_Mutation_p.E1495D|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1902D|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1902D|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1495D|PTPRD_ENST00000397611.3_Missense_Mutation_p.E1492D|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1492D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1902	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCCCAGGTACTCTAGTGCGG	0.443										TSP Lung(15;0.13)																																						0			9											140	144	143					9																	8317907		2203	4299	6502	8307907	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5706G>T	9.37:g.8317907C>A	ENSP00000370593:p.Glu1902Asp		8307907	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873488	0.33069	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	6.07	-0.328	0.12690	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.89223	0.6654	M	0.67625	2.065	0.51012	D	0.999908	P;P;P;P;B;P;P;D;P	0.55385	0.749;0.749;0.749;0.749;0.234;0.705;0.831;0.971;0.916	P;P;P;P;B;P;P;D;P	0.74348	0.879;0.879;0.879;0.879;0.223;0.808;0.651;0.983;0.806	D	0.87527	0.2450	10	0.72032	D	0.01	.	10.7252	0.46064	0.0:0.3453:0.0:0.6547	.	1495;1486;1495;1496;1492;1492;1889;1902;1902	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	1902;1902;1889;1880;1496;1495;1492;1492;1373;1902;1495;1495	ENSP00000370593:E1902D;ENSP00000348812:E1902D;ENSP00000353187:E1889D;ENSP00000351293:E1880D;ENSP00000347373:E1496D;ENSP00000380741:E1495D;ENSP00000380735:E1492D;ENSP00000440515:E1492D;ENSP00000438164:E1902D;ENSP00000417093:E1495D;ENSP00000380731:E1495D	ENSP00000340918:E1373D	E	-	3	2	PTPRD	8307907	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	0.383000	0.20651	0.031000	0.15407	0.655000	0.94253	GAG		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			A	8317907	C	A	8317907	3	1	399	1	0	0	0	0	1	0	0	0	12802	564	20	3	36	3	PTPRD	9	8317907	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	3132311	8317907	132895524	41	21843											
RABEPK	10244	genome.wustl.edu	37	9	127969863	127969863	+	Missense_Mutation	SNP	G	G	C	rs543701762	byFrequency	TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr9:127969863G>C	ENST00000373538.3	+	3	384	c.74G>C	c.(73-75)gGa>gCa	p.G25A	RABEPK_ENST00000259460.8_Missense_Mutation_p.G25A|RABEPK_ENST00000394125.4_Missense_Mutation_p.G25A|RABEPK_ENST00000394124.4_Missense_Mutation_p.G25A|RABEPK_ENST00000373544.1_Missense_Mutation_p.G25A	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	25					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACTGTCCCTGGAGACAGCCCC	0.493																																																0			9											150	129	137					9																	127969863		2203	4300	6503	127009684	SO:0001583	missense	10244			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.74G>C	9.37:g.127969863G>C	ENSP00000362639:p.Gly25Ala		127009684	A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224565	0.79576	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.72	5.72	0.89469	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;0.996;1.0	P;D;P;D	0.73708	0.822;0.981;0.822;0.961	T	0.78934	-0.2008	10	0.56958	D	0.05	-12.4512	17.3903	0.87428	0.0:0.0:1.0:0.0	.	25;25;25;25	A8K403;Q7Z6M1-2;Q7Z6M1;Q5T1S4	.;.;RABEK_HUMAN;.	A	25;25;25;25;25;108	ENSP00000377683:G25A;ENSP00000259460:G25A;ENSP00000362645:G25A;ENSP00000377682:G25A;ENSP00000362639:G25A;ENSP00000402234:G108A	ENSP00000259460:G25A	G	+	2	0	RABEPK	127009684	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	7.300000	0.78841	2.717000	0.92951	0.655000	0.94253	GGA		0.493	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		C	127969863	G	C	127969863	3	2	399	1	0	0	0	0	1	0	0	0	12966	1174	41	3	80	3	RABEPK	9	127969863	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	119651956	127969863	13243568	42	21844											
DUSP13	51207	genome.wustl.edu	37	10	76863744	76863744	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr10:76863744C>A	ENST00000491677.2	-	4	741	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S	DUSP13_ENST00000607131.1_Missense_Mutation_p.A31S|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	170					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCACGCTGGGCTTCCACCATC	0.642																																					NSCLC(174;1655 2059 12324 40663 42963)											0			10											34	35	35					10																	76863744		2196	4297	6493	76533750	SO:0001583	missense	51207			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000491677.2:c.199G>T	10.37:g.76863744C>A	ENSP00000436312:p.Ala67Ser		76533750	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000491677.2	37		.	.	.	.	.	.	.	.	.	.	C	12.13	1.846827	0.32606	.	.	ENSG00000079393	ENST00000491677;ENST00000372698	T	0.06608	3.28	4.41	2.44	0.29823	.	2.918520	0.01556	N	0.019889	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.39563	-0.9608	10	0.15066	T	0.55	-0.9659	4.8679	0.13618	0.2065:0.6771:0.0:0.1163	.	67	F2Z2C4	.	S	67;31	ENSP00000436312:A67S	ENSP00000361783:A31S	A	-	1	0	DUSP13	76533750	0.001000	0.12720	0.008000	0.14137	0.015000	0.08874	0.059000	0.14322	0.532000	0.28657	-0.181000	0.13052	GCC		0.642	DUSP13-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				A	76863744	C	A	76863744	3	1	399	1	0	0	0	0	1	0	0	0	4813	797	28	3	804	3	DUSP13	10	76863744	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09		76863744	58671003	43	21845											
SSRP1	6749	genome.wustl.edu	37	11	57097599	57097599	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:57097599G>C	ENST00000278412.2	-	12	1715	c.1449C>G	c.(1447-1449)aaC>aaG	p.N483K	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	483	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTTCACCTGGGTTGAATGACT	0.527																																					Colon(89;1000 1340 6884 23013 41819)											0			11											181	157	165					11																	57097599		2201	4296	6497	56854175	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1449C>G	11.37:g.57097599G>C	ENSP00000278412:p.Asn483Lys		56854175	Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	6.695	0.496922	0.12762	.	.	ENSG00000149136	ENST00000278412	D	0.92149	-2.98	5.4	2.51	0.30379	.	0.048282	0.85682	D	0.000000	D	0.84862	0.5566	L	0.43757	1.38	0.48975	D	0.999739	B	0.09022	0.002	B	0.04013	0.001	T	0.72261	-0.4345	10	0.06757	T	0.87	-31.0708	8.9406	0.35727	0.3094:0.0:0.6906:0.0	.	483	Q08945	SSRP1_HUMAN	K	483	ENSP00000278412:N483K	ENSP00000278412:N483K	N	-	3	2	SSRP1	56854175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.452000	0.35156	0.397000	0.25310	0.561000	0.74099	AAC		0.527	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		C	57097599	G	C	57097599	3	2	399	1	0	0	0	0	1	0	0	0	15196	1252	44	3	704	3	SSRP1	11	57097599	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09		57097599	77908917	44	21846											
SCGB1D1	10648	genome.wustl.edu	37	11	61959643	61959643	+	Silent	SNP	A	A	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:61959643A>C	ENST00000306238.3	+	2	240	c.171A>C	c.(169-171)gcA>gcC	p.A57A		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	57						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						AAGCTGTTGCAGCCAAGATGG	0.423																																																0			11											135	130	132					11																	61959643		2202	4299	6501	61716219	SO:0001819	synonymous_variant	10648			AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"Secretoglobins"	18395	protein-coding gene	gene with protein product	"prostatein-like lipophilin A", "lipophilin A (uteroglobin family member)"	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.171A>C	11.37:g.61959643A>C			61716219		Silent	SNP	ENST00000306238.3	37	CCDS8015.1																																																																																				0.423	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394856.1	NM_006552		C	61959643	A	C	61959643	2	2	399	1	0	0	0	0	0	0	0	1	13899	175	7	5		5	SCGB1D1	11	61959643	Silent	SNP	A	TCGA-42-2582-01A-01D-1526-09	4862044	61959643	73046873	45	21847											
SLC22A8	9376	genome.wustl.edu	37	11	62766517	62766517	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:62766517C>G	ENST00000336232.2	-	5	772	c.637G>C	c.(637-639)Gca>Cca	p.A213P	SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Missense_Mutation_p.A213P|SLC22A8_ENST00000545207.1_Missense_Mutation_p.A122P|SLC22A8_ENST00000430500.2_Missense_Mutation_p.A213P|SLC22A8_ENST00000535878.1_Missense_Mutation_p.A90P	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	213					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TACCCGAGTGCTGTCGACATG	0.592																																																0			11											114	100	105					11																	62766517		2201	4298	6499	62523093	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.637G>C	11.37:g.62766517C>G	ENSP00000337335:p.Ala213Pro		62523093	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881513	0.51908	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.82	-9.64	0.00541	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.496920	0.03712	N	0.250349	T	0.50718	0.1632	L	0.53561	1.675	0.09310	N	1	P;P;P	0.43885	0.82;0.755;0.755	B;P;P	0.47891	0.424;0.56;0.56	T	0.59343	-0.7472	10	0.56958	D	0.05	.	2.1097	0.03700	0.2767:0.1175:0.1245:0.4813	.	213;213;213	Q8TCC7-2;Q8TCC7;B2R807	.;S22A8_HUMAN;.	P	213;199;122;90;213;213	ENSP00000337335:A213P;ENSP00000441658:A122P;ENSP00000443368:A90P;ENSP00000311463:A213P;ENSP00000398548:A213P	ENSP00000311463:A213P	A	-	1	0	SLC22A8	62523093	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-4.382000	0.00243	-2.133000	0.00813	-0.422000	0.05995	GCA		0.592	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		G	62766517	C	G	62766517	3	3	399	1	0	0	0	0	1	0	0	0	14463	797	28	3	1019	3	SLC22A8	11	62766517	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	806874	62766517	72239999	46	21848											
IGHMBP2	3508	genome.wustl.edu	37	11	68701360	68701360	+	Missense_Mutation	SNP	G	G	A	rs556292818		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:68701360G>A	ENST00000255078.3	+	10	1627	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	506					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAGGAGGACGAACAGTCGAA	0.542													G|||	1	0.000199681	0	0	5008	,	,		18536	0.001		0	False		,,,				2504	0															0			11											64	64	64					11																	68701360		2196	4294	6490	68457936	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1516G>A	11.37:g.68701360G>A	ENSP00000255078:p.Glu506Lys		68457936	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136075	0.37728	.	.	ENSG00000132740	ENST00000255078	D	0.92299	-3.01	4.84	3.66	0.41972	.	0.658684	0.14603	N	0.309531	D	0.87549	0.6205	L	0.56340	1.77	0.80722	D	1	B	0.34161	0.439	B	0.30572	0.117	T	0.80892	-0.1179	10	0.27082	T	0.32	-7.8903	8.0739	0.30706	0.1536:0.0:0.8464:0.0	.	506	P38935	SMBP2_HUMAN	K	506	ENSP00000255078:E506K	ENSP00000255078:E506K	E	+	1	0	IGHMBP2	68457936	1.000000	0.71417	0.011000	0.14972	0.049000	0.14656	6.879000	0.75572	0.701000	0.31803	0.561000	0.74099	GAA		0.542	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		A	68701360	G	A	68701360	3	1	399	1	0	0	0	0	1	0	0	0	7591	1059	37	1	1554	1	IGHMBP2	11	68701360	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	5934843	68701360	66305156	47	21849											
OR10S1	219873	genome.wustl.edu	37	11	123847840	123847840	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr11:123847840G>C	ENST00000531945.1	-	1	648	c.559C>G	c.(559-561)Cac>Gac	p.H187D		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGGCAATGTGGCAAGGCCCA	0.552																																																0			11											101	85	90					11																	123847840		2202	4299	6501	123353050	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.559C>G	11.37:g.123847840G>C	ENSP00000431914:p.His187Asp		123353050	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	7.989	0.752812	0.15778	.	.	ENSG00000196248	ENST00000531945	T	0.00084	8.75	4.98	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.821148	0.10140	U	0.711028	T	0.00109	0.0003	L	0.33668	1.02	0.09310	N	1	P	0.35226	0.491	B	0.37198	0.243	T	0.00770	-1.1573	10	0.13108	T	0.6	-21.7248	4.3798	0.11288	0.0853:0.2767:0.5072:0.1309	.	187	Q8NGN2	O10S1_HUMAN	D	187	ENSP00000431914:H187D	ENSP00000431914:H187D	H	-	1	0	OR10S1	123353050	0.000000	0.05858	0.014000	0.15608	0.600000	0.36913	-0.381000	0.07417	0.702000	0.31825	0.638000	0.83543	CAC		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		C	123847840	G	C	123847840	3	2	399	1	0	0	0	0	1	0	0	0	10918	1348	47	3	440	3	OR10S1	11	123847840	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	55146480	123847840	11158676	48	21850											
PDE3A	5139	genome.wustl.edu	37	12	20769280	20769280	+	Silent	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr12:20769280C>T	ENST00000359062.3	+	4	1426	c.1386C>T	c.(1384-1386)cgC>cgT	p.R462R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	462					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGAGAGACCGCAGCACCAGCA	0.532																																																0			12											123	106	112					12																	20769280		2203	4300	6503	20660547	SO:0001819	synonymous_variant	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1386C>T	12.37:g.20769280C>T			20660547	O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	CCDS31754.1																																																																																				0.532	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20769280	C	T	20769280	2	4	399	1	0	0	0	0	0	0	0	1	11637	697	25	2		2	PDE3A	12	20769280	Silent	SNP	C	TCGA-42-2582-01A-01D-1526-09		20769280	113082615	49	21851											
SLCO1B1	10599	genome.wustl.edu	37	12	21331541	21331541	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr12:21331541G>T	ENST00000256958.2	+	6	609	c.513G>T	c.(511-513)tgG>tgT	p.W171C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	171					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.W171C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CATACATGTGGATATATGTGT	0.338																																																1	Substitution - Missense(1)	lung(1)	12											138	130	133					12																	21331541		2203	4300	6503	21222808	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.513G>T	12.37:g.21331541G>T	ENSP00000256958:p.Trp171Cys		21222808	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042685	0.35989	.	.	ENSG00000134538	ENST00000256958	T	0.40756	1.02	3.62	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81426	-0.0938	10	0.87932	D	0	.	15.813	0.78578	0.0:0.0:1.0:0.0	.	171	Q9Y6L6	SO1B1_HUMAN	C	171	ENSP00000256958:W171C	ENSP00000256958:W171C	W	+	3	0	SLCO1B1	21222808	1.000000	0.71417	0.936000	0.37596	0.118000	0.20060	9.007000	0.93597	2.018000	0.59344	0.313000	0.20887	TGG		0.338	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		T	21331541	G	T	21331541	3	4	399	1	0	0	0	0	1	0	0	0	14726	1183	41	3	531	3	SLCO1B1	12	21331541	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	562261	21331541	112520354	50	21852											
RAB3IP	117177	genome.wustl.edu	37	12	70206746	70206746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr12:70206746C>G	ENST00000362025.5	+	9	1628	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*	RAB3IP_ENST00000550536.1_Missense_Mutation_p.I427M|RAB3IP_ENST00000247833.7_Missense_Mutation_p.I411M|RAB3IP_ENST00000325555.9_Missense_Mutation_p.I205M|AC025263.3_ENST00000550437.1_Missense_Mutation_p.I52M|RAB3IP_ENST00000553099.1_Missense_Mutation_p.I205M|RAB3IP_ENST00000550847.1_Missense_Mutation_p.I118M|RAB3IP_ENST00000551641.1_Missense_Mutation_p.I205M|RAB3IP_ENST00000483530.2_Nonsense_Mutation_p.S378*	NM_175625.2	NP_783324.1			RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGGCCTAGATCACTTCTGTAT	0.363																																																0			12											150	137	141					12																	70206746		2203	4300	6503	68493013	SO:0001587	stop_gained	117177				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000362025.5:c.1181C>G	12.37:g.70206746C>G	ENSP00000355381:p.Ser394*		68493013		Nonsense_Mutation	SNP	ENST00000362025.5	37	CCDS41811.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.420861|6.420861|6.420861	0.97555|0.97555|0.97555	.|.|.	.|.|.	ENSG00000127328|ENSG00000127328|ENSG00000127328	ENST00000526994|ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847|ENST00000483530;ENST00000362025	.|T;T;T;T;T;T|.	.|0.49139|.	.|0.79;0.79;0.79;0.79;0.79;0.79|.	6.01|6.01|6.01	4.2|4.2|4.2	0.49525|0.49525|0.49525	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.61248|0.61248|.	0.2332|0.2332|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.71674|.	.|0.998|.	.|D|.	.|0.78314|.	.|0.991|.	T|T|.	0.61744|0.61744|.	-0.7000|-0.7000|.	4|9|.	.|0.87932|0.66056	.|D|D	.|0|0.02	.|.|.	5.6265|5.6265|5.6265	0.17485|0.17485|0.17485	0.1292:0.6057:0.0:0.265|0.1292:0.6057:0.0:0.265|0.1292:0.6057:0.0:0.265	.|.|.	.|427|.	.|Q96QF0|.	.|RAB3I_HUMAN|.	D|M|X	172|411;205;427;205;205;118|378;394	.|ENSP00000247833:I411M;ENSP00000323349:I205M;ENSP00000447300:I427M;ENSP00000448773:I205M;ENSP00000448027:I205M;ENSP00000448102:I118M|.	.|ENSP00000447336:I52M|ENSP00000355381:S394X	H|I|S	+|+|+	1|3|2	0|3|0	RAB3IP|RAB3IP|RAB3IP	68493013|68493013|68493013	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.887000|0.887000|0.887000	0.51463|0.51463|0.51463	2.004000|2.004000|2.004000	0.40854|0.40854|0.40854	0.887000|0.887000|0.887000	0.36136|0.36136|0.36136	-0.133000|-0.133000|-0.133000	0.14855|0.14855|0.14855	CAC|ATC|TCA		0.363	RAB3IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280670.1	NM_022456		G	70206746	C	G	70206746	4	3	399	1	0	0	0	0	0	1	0	0	12941	838	29	3	1319	3	RAB3IP	12	70206746	Nonsense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	48875205	70206746	63645149	51	21853											
SART3	9733	genome.wustl.edu	37	12	108930543	108930543	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr12:108930543T>C	ENST00000228284.3	-	10	1562	c.1328A>G	c.(1327-1329)gAg>gGg	p.E443G	SART3_ENST00000431469.2_Missense_Mutation_p.E407G	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	443					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CCTCAACTCCTCCAGCTCTTT	0.468									Porokeratosis																																							0			12											42	39	40					12																	108930543		2203	4300	6503	107454673	SO:0001583	missense	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1328A>G	12.37:g.108930543T>C	ENSP00000228284:p.Glu443Gly		107454673	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.963311	0.92791	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	T;T;T	0.38240	1.15;1.38;1.15	5.79	5.79	0.91817	.	0.049257	0.85682	D	0.000000	T	0.53012	0.1770	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.59357	0.98;0.968;0.985;0.969	P;P;P;P	0.58970	0.755;0.849;0.821;0.711	T	0.54029	-0.8354	10	0.59425	D	0.04	-27.675	15.8037	0.78477	0.0:0.0:0.0:1.0	.	391;461;407;443	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	G	443;407;19;391;461	ENSP00000228284:E443G;ENSP00000414453:E407G;ENSP00000449386:E461G	ENSP00000228284:E443G	E	-	2	0	SART3	107454673	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.226000	0.78060	2.218000	0.71995	0.533000	0.62120	GAG		0.468	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			C	108930543	T	C	108930543	3	2	399	1	0	0	0	0	1	0	0	0	13850	1551	54	4	1603	4	SART3	12	108930543	Missense_Mutation	SNP	T	TCGA-42-2582-01A-01D-1526-09	38723797	108930543	24921352	52	21854											
KCNRG	283518	genome.wustl.edu	37	13	50589816	50589816	+	Missense_Mutation	SNP	G	G	T	rs367947576		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr13:50589816G>T	ENST00000312942.1	+	1	427	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	TRIM13_ENST00000378182.3_3'UTR|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_Missense_Mutation_p.D63Y	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	63	BTB.				protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TTTCATCTTAGATTTTTTGAG	0.393																																																0			13											150	154	153					13																	50589816		2203	4300	6503	49487817	SO:0001583	missense	283518				CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.187G>T	13.37:g.50589816G>T	ENSP00000324191:p.Asp63Tyr		49487817	A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072200	0.76415	.	.	ENSG00000198553	ENST00000360473;ENST00000312942	T;T	0.46451	0.87;0.87	5.98	5.98	0.97165	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.064498	0.64402	D	0.000006	T	0.62672	0.2447	L	0.56199	1.76	0.53005	D	0.999965	D;D	0.64830	0.994;0.97	D;P	0.68943	0.961;0.79	T	0.61642	-0.7021	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	63;63	Q8N5I3;Q8N5I3-2	KCNRG_HUMAN;.	Y	63	ENSP00000353661:D63Y;ENSP00000324191:D63Y	ENSP00000324191:D63Y	D	+	1	0	KCNRG	49487817	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.064000	0.76721	2.838000	0.97847	0.655000	0.94253	GAT		0.393	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			T	50589816	G	T	50589816	3	4	399	1	0	0	0	0	1	0	0	0	8087	942	33	3	189	3	KCNRG	13	50589816	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09		50589816	64580062	53	21855											
SLC22A17	51310	genome.wustl.edu	37	14	23818562	23818562	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr14:23818562C>A	ENST00000206544.8	-	3	781	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	SLC22A17_ENST00000397267.1_Missense_Mutation_p.G149C|SLC22A17_ENST00000397260.3_Missense_Mutation_p.G38C|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Missense_Mutation_p.G149C	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	149					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGGAGGAGCCTGCAGCAGCC	0.617																																																0			14											44	44	44					14																	23818562		2203	4299	6502	22888402	SO:0001583	missense	51310			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.445G>T	14.37:g.23818562C>A	ENSP00000206544:p.Gly149Cys		22888402	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464296	0.63513	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.61	3.72	0.42706	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.164275	0.43416	D	0.000561	T	0.60248	0.2254	L	0.46157	1.445	0.37039	D	0.897057	B;D;B	0.62365	0.047;0.991;0.014	B;P;B	0.56163	0.055;0.793;0.006	T	0.66909	-0.5804	10	0.72032	D	0.01	-13.4996	8.2148	0.31505	0.0:0.8138:0.0:0.1862	.	149;149;149	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	C	149;38;149;149	ENSP00000346824:G149C;ENSP00000380430:G38C;ENSP00000206544:G149C;ENSP00000380437:G149C	ENSP00000206544:G149C	G	-	1	0	SLC22A17	22888402	0.988000	0.35896	0.997000	0.53966	0.982000	0.71751	1.930000	0.40124	1.159000	0.42565	0.462000	0.41574	GGC		0.617	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		A	23818562	C	A	23818562	3	1	399	1	0	0	0	0	1	0	0	0	14451	681	24	3	1199	3	SLC22A17	14	23818562	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09		23818562	83530978	54	21856											
CDC42BPB	9578	genome.wustl.edu	37	14	103410775	103410775	+	Silent	SNP	A	A	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr14:103410775A>C	ENST00000361246.2	-	30	4149	c.3861T>G	c.(3859-3861)gcT>gcG	p.A1287A		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCTCCCTGGGAGCAAGCTCGA	0.587																																																0			14											49	49	49					14																	103410775		2201	4298	6499	102480528	SO:0001819	synonymous_variant	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3861T>G	14.37:g.103410775A>C			102480528		Silent	SNP	ENST00000361246.2	37	CCDS9978.1																																																																																				0.587	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		C	103410775	A	C	103410775	2	2	399	1	0	0	0	0	0	0	0	1	3073	291	11	5		5	CDC42BPB	14	103410775	Silent	SNP	A	TCGA-42-2582-01A-01D-1526-09	79592213	103410775	3938765	55	21857											
ADSSL1	122622	genome.wustl.edu	37	14	105212718	105212718	+	Silent	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr14:105212718C>T	ENST00000555674.1	+	1	326	c.135C>T	c.(133-135)gtC>gtT	p.V45V	ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000332972.5_Silent_p.V482V|ADSSL1_ENST00000556623.1_Silent_p.V45V|ADSSL1_ENST00000330877.2_Silent_p.V439V					adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		ACGTGGGAGTCGCAGGTGGGT	0.637																																																0			14											43	44	44					14																	105212718		2203	4300	6503	104283763	SO:0001819	synonymous_variant	122622			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000555674.1:c.135C>T	14.37:g.105212718C>T			104283763		Silent	SNP	ENST00000555674.1	37																																																																																					0.637	ADSSL1-010	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000410540.1			T	105212718	C	T	105212718	2	4	399	1	0	0	0	0	0	0	0	1	348	871	31	1		1	ADSSL1	14	105212718	Silent	SNP	C	TCGA-42-2582-01A-01D-1526-09	1801943	105212718	2136822	56	21858											
MEIS2	4212	genome.wustl.edu	37	15	37390358	37390358	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr15:37390358C>G	ENST00000561208.1	-	2	473	c.55G>C	c.(55-57)Gtt>Ctt	p.V19L	MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.V6L|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.V19L|MEIS2_ENST00000559085.1_Missense_Mutation_p.V6L|MEIS2_ENST00000559561.1_Missense_Mutation_p.V19L|MEIS2_ENST00000444725.1_Missense_Mutation_p.V19L|MEIS2_ENST00000424352.2_Missense_Mutation_p.V19L|MEIS2_ENST00000397620.2_5'UTR|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000557796.2_Missense_Mutation_p.V6L|MEIS2_ENST00000382766.2_Missense_Mutation_p.V19L			O14770	MEIS2_HUMAN	Meis homeobox 2	19					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAAGCGGGAACCCCTACTCCG	0.682																																																0			15											21	24	23					15																	37390358		2201	4297	6498	35177650	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.55G>C	15.37:g.37390358C>G	ENSP00000453793:p.Val19Leu		35177650	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427628	0.43122	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.24920	0.001;0.002;0.001;0.001;0.114;0.0	B;B;B;B;B;B	0.18561	0.002;0.005;0.005;0.002;0.022;0.002	T	0.05386	-1.0888	10	0.15952	T	0.53	-11.4218	18.5803	0.91168	0.0:1.0:0.0:0.0	.	6;19;19;19;19;6	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	L	19;19;19;19;19;6;6	ENSP00000326296:V19L;ENSP00000341400:V19L;ENSP00000372216:V19L;ENSP00000404185:V19L;ENSP00000391887:V19L;ENSP00000339549:V6L	ENSP00000326296:V19L	V	-	1	0	MEIS2	35177650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.322000	0.52007	2.457000	0.83068	0.655000	0.94253	GTT		0.682	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		G	37390358	C	G	37390358	3	3	399	1	0	0	0	0	1	0	0	0	9468	507	18	3	1485	3	MEIS2	15	37390358	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09		37390358	65141034	57	21859											
CASC4	113201	genome.wustl.edu	37	15	44624251	44624251	+	Missense_Mutation	SNP	C	C	G	rs144203071		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr15:44624251C>G	ENST00000345795.2	+	4	821	c.551C>G	c.(550-552)gCa>gGa	p.A184G	CASC4_ENST00000299957.6_Missense_Mutation_p.A184G|CASC4_ENST00000360824.3_Intron	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	184						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AAAAAGTTAGCAGACCAGTTT	0.234																																																0			15											46	51	49					15																	44624251		2198	4297	6495	42411543	SO:0001583	missense	113201			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.551C>G	15.37:g.44624251C>G	ENSP00000335063:p.Ala184Gly		42411543	B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643858	0.67244	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	D;D	0.84516	-1.86;-1.86	5.21	5.21	0.72293	.	0.240683	0.42294	D	0.000733	D	0.83216	0.5206	L	0.56769	1.78	0.80722	D	1	B;P;P	0.50272	0.266;0.933;0.911	B;P;B	0.45794	0.091;0.493;0.442	T	0.80892	-0.1179	10	0.27082	T	0.32	.	11.7168	0.51659	0.1762:0.8238:0.0:0.0	.	184;184;184	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	G	184;184;163	ENSP00000299957:A184G;ENSP00000335063:A184G	ENSP00000299957:A184G	A	+	2	0	CASC4	42411543	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.966000	0.29331	2.601000	0.87937	0.655000	0.94253	GCA		0.234	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		G	44624251	C	G	44624251	3	3	399	1	0	0	0	0	1	0	0	0	2662	710	25	3	565	3	CASC4	15	44624251	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	7233893	44624251	57907141	58	21860											
USP8	9101	genome.wustl.edu	37	15	50769603	50769603	+	Silent	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr15:50769603G>A	ENST00000396444.3	+	10	1463	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	USP8_ENST00000425032.3_Silent_p.L298L|USP8_ENST00000307179.4_Silent_p.L375L|USP8_ENST00000433963.1_Silent_p.L375L	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	375					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGGGACCACTGAATATATCAA	0.398																																																0			15											99	101	100					15																	50769603		2196	4294	6490	48556895	SO:0001819	synonymous_variant	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1125G>A	15.37:g.50769603G>A			48556895	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																				0.398	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		A	50769603	G	A	50769603	2	1	399	1	0	0	0	0	0	0	0	1	17089	1277	45	2		2	USP8	15	50769603	Silent	SNP	G	TCGA-42-2582-01A-01D-1526-09	6145352	50769603	51761789	59	21861											
TAOK2	8479	genome.wustl.edu	37	16	30002839	30002839	+	IGR	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr16:30002839A>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.T1034S	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGCCGCAGCACCAGTGTCGC	0.687																																																0			16											6	4	5					16																	30002839		1907	3737	5644	29910340	SO:0001628	intergenic_variant	9344			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002839A>T			29910340	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	a	14.04	2.417677	0.42918	.	.	ENSG00000149930	ENST00000279394	T	0.74315	-0.83	4.74	4.74	0.60224	.	.	.	.	.	T	0.70133	0.3189	L	0.55481	1.735	0.80722	D	1	P	0.42827	0.791	B	0.44133	0.442	T	0.69304	-0.5180	8	.	.	.	.	8.5102	0.33213	0.9087:0.0:0.0913:0.0	.	1034	Q9UL54-2	.	S	1034	ENSP00000279394:T1034S	.	T	+	1	0	TAOK2	29910340	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.272000	0.51616	1.988000	0.58038	0.529000	0.55759	ACC		0.687	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		T	30002839	A	T	30002839	1	4	399	0	1	0	0	0	0	0	0	0	15548	159	6	5		5	TAOK2	16	30002839	IGR	SNP	A	TCGA-42-2582-01A-01D-1526-09		30002839	60351914	60	21862											
PRR14	78994	genome.wustl.edu	37	16	30666310	30666310	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr16:30666310C>A	ENST00000542965.2	+	7	1475	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.P340H			Q9BWN1	PRR14_HUMAN	proline rich 14	340	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CTGGGGCCCCCTGGCCCAGGT	0.682																																																0			16											40	43	42					16																	30666310		2197	4300	6497	30573811	SO:0001583	missense	78994			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1019C>A	16.37:g.30666310C>A	ENSP00000441641:p.Pro340His		30573811	Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263107	0.59431	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.63096	-0.02;-0.02	5.55	2.49	0.30216	.	0.236936	0.29964	N	0.010756	T	0.68897	0.3051	M	0.64997	1.995	0.29947	N	0.820569	D	0.61697	0.99	P	0.60473	0.875	T	0.65800	-0.6080	10	0.66056	D	0.02	0.222	6.9553	0.24568	0.0:0.6991:0.143:0.1579	.	340	Q9BWN1	PRR14_HUMAN	H	313;340;340	ENSP00000300835:P340H;ENSP00000441641:P340H	ENSP00000287463:P313H	P	+	2	0	PRR14	30573811	0.966000	0.33281	0.967000	0.41034	0.985000	0.73830	0.870000	0.28010	0.288000	0.22398	0.655000	0.94253	CCT		0.682	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		A	30666310	C	A	30666310	3	1	399	1	0	0	0	0	1	0	0	0	12589	681	24	3	1045	3	PRR14	16	30666310	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	663471	30666310	59688443	61	21863											
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	399	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09		7577120	73618090	62	21864											
GATA6	2627	genome.wustl.edu	37	18	19762737	19762737	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr18:19762737T>C	ENST00000269216.3	+	5	1725	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T	GATA6_ENST00000581694.1_Missense_Mutation_p.M483T|RNU6-702P_ENST00000364982.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	483					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCACTTGCTATGAAAAAAGAG	0.323																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)											0			18											52	54	53					18																	19762737		2203	4299	6502	18016735	SO:0001583	missense	2627			U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1448T>C	18.37:g.19762737T>C	ENSP00000269216:p.Met483Thr		18016735	B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602878	0.66445	.	.	ENSG00000141448	ENST00000269216	D	0.99663	-6.33	5.97	5.97	0.96955	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.121190	0.85682	D	0.000000	D	0.99651	0.9871	M	0.89214	3.015	0.80722	D	1	D	0.63046	0.992	D	0.69824	0.966	D	0.97744	1.0210	10	0.87932	D	0	-5.8643	16.4452	0.83925	0.0:0.0:0.0:1.0	.	483	Q92908	GATA6_HUMAN	T	483	ENSP00000269216:M483T	ENSP00000269216:M483T	M	+	2	0	GATA6	18016735	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.698000	0.84413	2.281000	0.76405	0.528000	0.53228	ATG		0.323	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		C	19762737	T	C	19762737	3	2	399	1	0	0	0	0	1	0	0	0	6258	1464	51	4	1462	4	GATA6	18	19762737	Missense_Mutation	SNP	T	TCGA-42-2582-01A-01D-1526-09		19762737	58314511	63	21865											
C18orf26	284254	genome.wustl.edu	37	18	52262336	52262336	+	Splice_Site	SNP	T	T	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr18:52262336T>A	ENST00000321600.1	+	2	346		c.e2+2		DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein						activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AACACACAGGTAATGTGTAGC	0.418																																																0			18											103	99	101					18																	52262336		2203	4300	6503	50413334	SO:0001630	splice_region_variant	284254			AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 26"	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.300+2T>A	18.37:g.52262336T>A			50413334		Splice_Site	SNP	ENST00000321600.1	37	CCDS11957.1	.	.	.	.	.	.	.	.	.	.	.	9.119	1.008422	0.19199	.	.	ENSG00000178690	ENST00000321600	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2594	0.43416	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C18orf26	50413334	1.000000	0.71417	0.994000	0.49952	0.039000	0.13416	3.291000	0.51764	2.197000	0.70478	0.533000	0.62120	.		0.418	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629	Intron	A	52262336	T	A	52262336	5	1	399	1	0	0	0	0	0	0	1	0	1900	1652	57	5	308	5	C18orf26	18	52262336	Splice_Site	SNP	T	TCGA-42-2582-01A-01D-1526-09	32499599	52262336	25814912	64	21866											
FUT3	2525	genome.wustl.edu	37	19	5844007	5844007	+	Missense_Mutation	SNP	C	C	T	rs551619908		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:5844007C>T	ENST00000303225.6	-	3	1478	c.844G>A	c.(844-846)Gag>Aag	p.E282K	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Missense_Mutation_p.E282K|FUT3_ENST00000589918.1_Missense_Mutation_p.E282K|FUT3_ENST00000458379.2_Missense_Mutation_p.E282K	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	282					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGAACCTCTCGTAGTTGCTT	0.657													C|||	1	0.000199681	0	0	5008	,	,		17257	0		0	False		,,,				2504	0.001				Esophageal Squamous(82;745 1728 24593 44831)											0			19											12	14	13					19																	5844007		2177	4235	6412	5795007	SO:0001583	missense	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.844G>A	19.37:g.5844007C>T	ENSP00000305603:p.Glu282Lys		5795007	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354642	0.41700	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.27104	1.69;1.69	2.29	1.1	0.20463	.	0.000000	0.64402	D	0.000018	T	0.42494	0.1205	M	0.65975	2.015	0.38890	D	0.957092	D;D;D;D	0.89917	1.0;0.99;0.999;0.99	D;D;D;D	0.97110	1.0;0.949;0.972;0.949	T	0.28038	-1.0056	10	0.52906	T	0.07	.	7.6868	0.28544	0.0:0.8482:0.0:0.1518	.	282;282;282;282	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	K	282	ENSP00000305603:E282K;ENSP00000416443:E282K	ENSP00000305603:E282K	E	-	1	0	FUT3	5795007	1.000000	0.71417	0.001000	0.08648	0.065000	0.16274	4.407000	0.59754	0.213000	0.20722	0.194000	0.17425	GAG		0.657	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		T	5844007	C	T	5844007	3	4	399	1	0	0	0	0	1	0	0	0	6105	893	31	1	245	1	FUT3	19	5844007	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09		5844007	53284976	65	21867											
STXBP2	6813	genome.wustl.edu	37	19	7711161	7711161	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:7711161G>T	ENST00000221283.5	+	16	1414	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	STXBP2_ENST00000414284.2_Missense_Mutation_p.E458D|STXBP2_ENST00000441779.2_Missense_Mutation_p.E472D|STXBP2_ENST00000602355.1_5'UTR	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	461					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCCGGCTGGAGCCGAGAGAAC	0.672																																																0			19											33	29	31					19																	7711161		2203	4299	6502	7617161	SO:0001583	missense	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1383G>T	19.37:g.7711161G>T	ENSP00000221283:p.Glu461Asp		7617161	B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	6.527	0.465449	0.12402	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.76839	-1.05;-1.05;-1.05	4.31	1.97	0.26223	.	0.419662	0.24242	N	0.040243	T	0.59183	0.2175	L	0.28400	0.85	0.33850	D	0.632546	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12837	0.008;0.008;0.005;0.008	T	0.53422	-0.8441	10	0.10636	T	0.68	-2.9323	6.6188	0.22792	0.1072:0.1817:0.711:0.0	.	472;472;458;461	E7EQD5;B4E175;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	D	461;458;472;461	ENSP00000221283:E461D;ENSP00000409471:E458D;ENSP00000413606:E472D	ENSP00000221283:E461D	E	+	3	2	STXBP2	7617161	0.497000	0.26067	1.000000	0.80357	0.349000	0.29174	0.229000	0.17833	0.956000	0.37904	0.555000	0.69702	GAG		0.672	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		T	7711161	G	T	7711161	3	4	399	1	0	0	0	0	1	0	0	0	15355	962	34	3	1445	3	STXBP2	19	7711161	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	1867154	7711161	51417822	66	21868											
PDE4A	5141	genome.wustl.edu	37	19	10565567	10565567	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:10565567G>C	ENST00000352831.6	+	7	956	c.846G>C	c.(844-846)caG>caC	p.Q282H	PDE4A_ENST00000344979.3_Missense_Mutation_p.Q43H|PDE4A_ENST00000380702.2_Missense_Mutation_p.Q260H|PDE4A_ENST00000592685.1_Missense_Mutation_p.Q260H|PDE4A_ENST00000440014.2_Missense_Mutation_p.Q221H|PDE4A_ENST00000293683.5_Missense_Mutation_p.Q256H	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	282					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CCGGAAACCAGGTCTCAGAGT	0.532																																																0			19											132	110	117					19																	10565567		2203	4300	6503	10426567	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.846G>C	19.37:g.10565567G>C	ENSP00000270474:p.Gln282His		10426567	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925807	0.73213	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.73047	-0.71;-0.69;-0.7;-0.67;-0.29	4.59	1.29	0.21616	.	0.410669	0.23249	N	0.050275	T	0.81978	0.4937	M	0.92122	3.275	0.46749	D	0.999182	P;P;P;B	0.39094	0.659;0.659;0.537;0.352	P;P;P;P	0.52066	0.622;0.467;0.689;0.491	T	0.81111	-0.1081	10	0.87932	D	0	.	7.8182	0.29271	0.2783:0.0:0.7217:0.0	.	43;221;256;282	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	H	260;282;256;221;43	ENSP00000370078:Q260H;ENSP00000270474:Q282H;ENSP00000293683:Q256H;ENSP00000394754:Q221H;ENSP00000341007:Q43H	ENSP00000293683:Q256H	Q	+	3	2	PDE4A	10426567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.340000	0.43974	0.275000	0.22094	0.603000	0.83216	CAG		0.532	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			C	10565567	G	C	10565567	3	2	399	1	0	0	0	0	1	0	0	0	11639	991	35	3	1329	3	PDE4A	19	10565567	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	2854406	10565567	48563416	67	21869											
DNASE2	1777	genome.wustl.edu	37	19	12986952	12986952	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:12986952A>C	ENST00000222219.3	-	6	1027	c.935T>G	c.(934-936)aTg>aGg	p.M312R	DNASE2_ENST00000538460.1_Missense_Mutation_p.M257R	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	312					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GTTCCGATTCATGTCACCCAC	0.612																																																0			19											66	59	61					19																	12986952		2203	4300	6503	12847952	SO:0001583	missense	1777			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.935T>G	19.37:g.12986952A>C	ENSP00000222219:p.Met312Arg		12847952	B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348916	0.61183	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.14391	2.51;2.51	4.99	4.99	0.66335	.	0.133611	0.64402	D	0.000003	T	0.37598	0.1009	M	0.84948	2.725	0.49687	D	0.999816	D;D	0.67145	0.996;0.99	P;P	0.62089	0.898;0.871	T	0.35450	-0.9788	10	0.62326	D	0.03	-27.7785	12.6431	0.56720	1.0:0.0:0.0:0.0	.	257;312	B7Z4K6;O00115	.;DNS2A_HUMAN	R	312;257	ENSP00000222219:M312R;ENSP00000445988:M257R	ENSP00000222219:M312R	M	-	2	0	DNASE2	12847952	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.265000	0.72534	1.886000	0.54624	0.379000	0.24179	ATG		0.612	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			C	12986952	A	C	12986952	3	2	399	1	0	0	0	0	1	0	0	0	4664	217	8	5	151	5	DNASE2	19	12986952	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09	2421385	12986952	46142031	68	21870											
PSG1	5669	genome.wustl.edu	37	19	43375948	43375948	+	Missense_Mutation	SNP	C	C	T	rs539827933		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:43375948C>T	ENST00000436291.2	-	3	796	c.680G>A	c.(679-681)cGc>cAc	p.R227H	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Missense_Mutation_p.R227H|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000244296.2_Missense_Mutation_p.R227H|PSG1_ENST00000595356.1_Missense_Mutation_p.R227H	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	227	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGGTCACTGCGGCTGGCACT	0.537													.|||	1	0.000199681	0	0	5008	,	,		20222	0.001		0	False		,,,				2504	0															0			19											183	194	190					19																	43375948		2200	4296	6496	48067788	SO:0001583	missense	5669				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.680G>A	19.37:g.43375948C>T	ENSP00000413041:p.Arg227His		48067788	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	7.728	0.698549	0.15106	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.12672	2.66;2.66;2.66	1.64	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14743	0.0356	L	0.60067	1.865	0.09310	N	1	B;B;B;B;B;B;B;B	0.32128	0.266;0.127;0.279;0.065;0.357;0.026;0.04;0.194	B;B;B;B;B;B;B;B	0.39217	0.294;0.073;0.159;0.049;0.13;0.031;0.097;0.063	T	0.32824	-0.9892	9	0.46703	T	0.11	.	4.5869	0.12287	0.0:0.623:0.0:0.377	.	227;227;227;227;227;99;227;227	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	H	227	ENSP00000413041:R227H;ENSP00000308970:R227H;ENSP00000244296:R227H	ENSP00000244296:R227H	R	-	2	0	PSG1	48067788	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	-1.442000	0.02407	-0.442000	0.07190	0.184000	0.17185	CGC		0.537	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			T	43375948	C	T	43375948	3	4	399	1	0	0	0	0	1	0	0	0	12656	768	27	1	648	1	PSG1	19	43375948	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	30388996	43375948	15753035	69	21871											
BCL3	602	genome.wustl.edu	37	19	45260367	45260367	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:45260367G>A	ENST00000164227.5	+	4	857	c.613G>A	c.(613-615)Ggc>Agc	p.G205S		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	205					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GGACCGCCATGGCCAGACGGC	0.701			T	IGH@	CLL																																		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0			19											16	12	13					19																	45260367		2129	4172	6301	49952207	SO:0001583	missense	602			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.613G>A	19.37:g.45260367G>A	ENSP00000164227:p.Gly205Ser		49952207		Missense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.306660|5.306660	0.95629|0.95629	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000403534;ENST00000164227|ENST00000444487	T|.	0.73681|.	-0.77|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.41097|.	D|.	0.000952|.	T|.	0.52092|.	0.1713|.	N|N	0.24115|0.24115	0.695|0.695	0.49687|0.49687	D|D	0.999816|0.999816	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.48625|.	-0.9019|.	10|.	0.87932|.	D|.	0|.	-16.7676|-16.7676	15.3744|15.3744	0.74593|0.74593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	205|.	P20749|.	BCL3_HUMAN|.	S|X	165;205|88	ENSP00000164227:G205S|.	ENSP00000164227:G205S|.	G|W	+|+	1|2	0|0	BCL3|BCL3	49952207|49952207	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	7.871000|7.871000	0.87180|0.87180	2.207000|2.207000	0.71202|0.71202	0.305000|0.305000	0.20034|0.20034	GGC|TGG		0.701	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		A	45260367	G	A	45260367	3	1	399	1	0	0	0	0	1	0	0	0	1375	1348	47	2	627	2	BCL3	19	45260367	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	1884419	45260367	13868616	70	21872											
NLRP13	126204	genome.wustl.edu	37	19	56413556	56413556	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr19:56413556C>G	ENST00000342929.3	-	9	2633	c.2634G>C	c.(2632-2634)caG>caC	p.Q878H	NLRP13_ENST00000588751.1_Missense_Mutation_p.Q878H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	878							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGCTGCCAGCTGGCAAAACC	0.602																																																0			19											58	47	51					19																	56413556		2203	4300	6503	61105368	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2634G>C	19.37:g.56413556C>G	ENSP00000343891:p.Gln878His		61105368	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171280	0.06421	.	.	ENSG00000173572	ENST00000342929	T	0.54675	0.56	2.52	0.274	0.15654	.	.	.	.	.	T	0.31979	0.0814	N	0.16266	0.395	0.09310	N	1	B	0.25955	0.138	B	0.32805	0.153	T	0.29150	-1.0021	9	0.21540	T	0.41	.	4.1561	0.10261	0.0:0.6286:0.0:0.3713	.	878	Q86W25	NAL13_HUMAN	H	878	ENSP00000343891:Q878H	ENSP00000343891:Q878H	Q	-	3	2	NLRP13	61105368	0.000000	0.05858	0.077000	0.20336	0.246000	0.25737	-1.354000	0.02614	0.362000	0.24319	0.467000	0.42956	CAG		0.602	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		G	56413556	C	G	56413556	3	3	399	1	0	0	0	0	1	0	0	0	10475	796	28	3	507	3	NLRP13	19	56413556	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	11153189	56413556	2715427	71	21873											
SLC4A11	83959	genome.wustl.edu	37	20	3211161	3211161	+	Splice_Site	SNP	C	C	A	rs121909393		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr20:3211161C>A	ENST00000380056.3	-	11	1510	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Splice_Site_p.R515M|SLC4A11_ENST00000539553.2_Splice_Site_p.R472M	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	488	Membrane (bicarbonate transporter).		R -> K (in CDPD). {ECO:0000269|PubMed:17220209}.		bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCCAGTCACCTCTTGAAGAG	0.562																																					NSCLC(190;922 2139 10266 10292 38692)											0			20	GRCh37	CM072051	SLC4A11	M	rs121909393						82	83	83					20																	3211161		2203	4300	6503	3159161	SO:0001630	splice_region_variant	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1463+1G>T	20.37:g.3211161C>A			3159161	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795898	0.90453	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	D;D;D	0.83673	-1.75;-1.75;-1.75	5.07	5.07	0.68467	Bicarbonate transporter, C-terminal (1);	0.048890	0.85682	D	0.000000	D	0.93304	0.7866	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.94820	0.7986	9	.	.	.	.	18.037	0.89307	0.0:1.0:0.0:0.0	.	472;515;488	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	M	515;488;472	ENSP00000369399:R515M;ENSP00000369396:R488M;ENSP00000441370:R472M	.	R	-	2	0	SLC4A11	3159161	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.563000	0.82314	2.342000	0.79632	0.563000	0.77884	AGG		0.562	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1		Missense_Mutation	A	3211161	C	A	3211161	5	1	399	1	0	0	0	0	0	0	1	0	14655	695	24	3	1248	3	SLC4A11	20	3211161	Splice_Site	SNP	C	TCGA-42-2582-01A-01D-1526-09		3211161	59814359	72	21874											
KIAA0406	9675	genome.wustl.edu	37	20	36640088	36640088	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr20:36640088G>C	ENST00000373448.2	-	3	2369	c.2131C>G	c.(2131-2133)Ctg>Gtg	p.L711V	TTI1_ENST00000373447.3_Missense_Mutation_p.L711V|TTI1_ENST00000487362.1_5'Flank|TTI1_ENST00000449821.1_Missense_Mutation_p.L711V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	711					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGAGGATGCAGAGCCAGATGA	0.493																																																0			20											80	67	71					20																	36640088		2203	4300	6503	36073502	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2131C>G	20.37:g.36640088G>C	ENSP00000362547:p.Leu711Val		36073502	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	1.838	-0.468094	0.04476	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.61040	0.14;0.14;0.14	5.23	4.28	0.50868	Armadillo-like helical (1);Armadillo-type fold (1);	0.559807	0.18838	N	0.129760	T	0.45597	0.1350	L	0.50333	1.59	0.09310	N	1	B	0.19583	0.037	B	0.20577	0.03	T	0.28004	-1.0057	10	0.15066	T	0.55	-3.4292	6.3845	0.21554	0.1559:0.0:0.696:0.1482	.	711	O43156	TTI1_HUMAN	V	711	ENSP00000362547:L711V;ENSP00000362546:L711V;ENSP00000407270:L711V	ENSP00000362546:L711V	L	-	1	2	TTI1	36073502	1.000000	0.71417	0.703000	0.30354	0.850000	0.48378	4.684000	0.61686	1.436000	0.47453	0.655000	0.94253	CTG		0.493	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		C	36640088	G	C	36640088	3	2	399	1	0	0	0	0	1	0	0	0	8173	933	33	3	1166	3	KIAA0406	20	36640088	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09	33428927	36640088	26385432	73	21875											
SOD1	6647	genome.wustl.edu	37	21	33038773	33038773	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr21:33038773G>C	ENST00000270142.6	+	3	329	c.181G>C	c.(181-183)Gca>Cca	p.A61P	SOD1_ENST00000389995.4_Missense_Mutation_p.A42P|SOD1_ENST00000470944.1_3'UTR|AP000254.8_ENST00000609934.1_RNA|SNORA81_ENST00000458922.1_RNA	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	61					activation of MAPK activity (GO:0000187)|anterograde axon cargo transport (GO:0008089)|auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryo implantation (GO:0007566)|glutathione metabolic process (GO:0006749)|heart contraction (GO:0060047)|hydrogen peroxide biosynthetic process (GO:0050665)|locomotory behavior (GO:0007626)|muscle cell cellular homeostasis (GO:0046716)|myeloid cell homeostasis (GO:0002262)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament cytoskeleton organization (GO:0060052)|ovarian follicle development (GO:0001541)|peripheral nervous system myelin maintenance (GO:0032287)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cytokine production (GO:0001819)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of superoxide anion generation (GO:0032930)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of multicellular organism growth (GO:0040014)|regulation of organ growth (GO:0046620)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of T cell differentiation in thymus (GO:0033081)|relaxation of vascular smooth muscle (GO:0060087)|removal of superoxide radicals (GO:0019430)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to hydrogen peroxide (GO:0042542)|response to nutrient levels (GO:0031667)|response to organic substance (GO:0010033)|response to superoxide (GO:0000303)|retina homeostasis (GO:0001895)|retrograde axon cargo transport (GO:0008090)|sensory perception of sound (GO:0007605)|spermatogenesis (GO:0007283)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|thymus development (GO:0048538)|transmission of nerve impulse (GO:0019226)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|peroxisome (GO:0005777)|protein complex (GO:0043234)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein phosphatase 2B binding (GO:0030346)|Rac GTPase binding (GO:0048365)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(1)	4					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	CTGTACCAGTGCAGGTCCTCA	0.363																																																0			21											59	55	57					21																	33038773		2203	4300	6503	31960644	SO:0001583	missense	6647			AY049787, X02317	CCDS33536.1	21q22.11	2014-09-17	2008-07-31		ENSG00000142168	ENSG00000142168	1.15.1.1		11179	protein-coding gene	gene with protein product		147450	"amyotrophic lateral sclerosis 1 (adult)"	ALS, ALS1		8446170	Standard	NM_000454		Approved	IPOA	uc002ypa.3	P00441	OTTHUMG00000084878	ENST00000270142.6:c.181G>C	21.37:g.33038773G>C	ENSP00000270142:p.Ala61Pro		31960644	A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85	Missense_Mutation	SNP	ENST00000270142.6	37	CCDS33536.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188179	0.94923	.	.	ENSG00000142168	ENST00000270142;ENST00000389995	D;D	0.99727	-6.55;-6.55	5.2	5.2	0.72013	Superoxide dismutase, copper/zinc binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	H	0.99859	4.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96121	0.9085	10	0.87932	D	0	-17.0872	19.2916	0.94102	0.0:0.0:1.0:0.0	.	61	P00441	SODC_HUMAN	P	61;42	ENSP00000270142:A61P;ENSP00000374645:A42P	ENSP00000270142:A61P	A	+	1	0	SOD1	31960644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.952000	0.93031	2.861000	0.98227	0.655000	0.94253	GCA		0.363	SOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192585.2	NM_000454		C	33038773	G	C	33038773	3	2	399	1	0	0	0	0	1	0	0	0	14923	1319	46	3	191	3	SOD1	21	33038773	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09		33038773	15091122	74	21876											
IL17RA	23765	genome.wustl.edu	37	22	17590378	17590378	+	Missense_Mutation	SNP	G	G	A	rs573583763		TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chr22:17590378G>A	ENST00000319363.6	+	13	2402	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	757					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTCGCTCTTCGAGCAGAGTCT	0.652													C|||	1	0.000199681	0	0	5008	,	,		14815	0		0	False		,,,				2504	0.001															0			22											20	20	20					22																	17590378		2201	4299	6500	15970378	SO:0001583	missense	23765			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2269G>A	22.37:g.17590378G>A	ENSP00000320936:p.Glu757Lys		15970378	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501618	0.85176	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.05382	3.45	4.07	0.528	0.17089	.	0.328806	0.26227	N	0.025599	T	0.04588	0.0125	N	0.22421	0.69	0.09310	N	1	B;B	0.24882	0.113;0.113	B;B	0.17098	0.017;0.011	T	0.33777	-0.9855	10	0.72032	D	0.01	-13.966	10.3371	0.43856	0.1387:0.4101:0.4511:0.0	.	705;757	D3YTB4;Q96F46	.;I17RA_HUMAN	K	705;757	ENSP00000320936:E757K	ENSP00000320936:E757K	E	+	1	0	IL17RA	15970378	0.224000	0.23674	0.081000	0.20488	0.253000	0.25986	0.464000	0.21988	-0.127000	0.11661	-0.216000	0.12614	GAG		0.652	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		A	17590378	G	A	17590378	3	1	399	1	0	0	0	0	1	0	0	0	7639	1059	37	1	2319	1	IL17RA	22	17590378	Missense_Mutation	SNP	G	TCGA-42-2582-01A-01D-1526-09		17590378	33714188	75	21877											
WWC3	55841	genome.wustl.edu	37	X	10085348	10085348	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:10085348C>T	ENST00000380861.4	+	11	1640	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	WWC3_ENST00000454666.1_Missense_Mutation_p.P417S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	417	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGACCTCATTCCCTTCGACTC	0.657													C|||	1	0.000264901	0	0.0014	3775	,	,		12767	0		0	False		,,,				2504	0															0			X											74	70	72					X																	10085348		2203	4300	6503	10045348	SO:0001583	missense	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1249C>T	X.37:g.10085348C>T	ENSP00000370242:p.Pro417Ser		10045348	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765307	0.69878	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543293;ENST00000398613	T;T	0.05649	3.41;3.41	5.43	5.43	0.79202	.	0.116836	0.56097	D	0.000022	T	0.25269	0.0614	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10613	-1.0622	10	0.14252	T	0.57	-28.6964	18.464	0.90749	0.0:1.0:0.0:0.0	.	417	Q9ULE0	WWC3_HUMAN	S	417;417;81;417	ENSP00000370242:P417S;ENSP00000399584:P417S	ENSP00000370242:P417S	P	+	1	0	WWC3	10045348	1.000000	0.71417	0.644000	0.29465	0.205000	0.24178	7.623000	0.83113	2.303000	0.77524	0.464000	0.42555	CCC		0.657	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		T	10085348	C	T	10085348	3	4	399	1	0	0	0	0	1	0	0	0	17413	855	30	2	1287	2	WWC3	23	10085348	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09		10085348	145185212	76	21878											
NAP1L3	4675	genome.wustl.edu	37	X	92927626	92927626	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:92927626T>G	ENST00000373079.3	-	1	941	c.678A>C	c.(676-678)gaA>gaC	p.E226D	FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.E219D|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	226	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CCTCAGGAATTTCTTTAGGAA	0.408																																																0			X											111	113	113					X																	92927626		2203	4300	6503	92814282	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.678A>C	X.37:g.92927626T>G	ENSP00000362171:p.Glu226Asp		92814282	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	6.866	0.529090	0.13127	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.32023	1.47	3.29	0.668	0.17912	.	0.227223	0.27331	N	0.019843	T	0.17492	0.0420	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.12811	-1.0533	10	0.40728	T	0.16	.	4.3736	0.11260	0.198:0.0:0.2012:0.6008	.	226	Q99457	NP1L3_HUMAN	D	226;219	ENSP00000362171:E226D	ENSP00000362171:E226D	E	-	3	2	NAP1L3	92814282	0.423000	0.25482	0.041000	0.18516	0.102000	0.19082	0.401000	0.20948	0.042000	0.15717	0.430000	0.28490	GAA		0.408	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		G	92927626	T	G	92927626	3	3	399	1	0	0	0	0	1	0	0	0	10158	1838	64	5	846	5	NAP1L3	23	92927626	Missense_Mutation	SNP	T	TCGA-42-2582-01A-01D-1526-09	82842278	92927626	62342934	77	21879											
BHLHB9	80823	genome.wustl.edu	37	X	102005393	102005393	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:102005393A>C	ENST00000372735.1	+	4	2055	c.1470A>C	c.(1468-1470)ttA>ttC	p.L490F	BHLHB9_ENST00000457056.1_Missense_Mutation_p.L490F|BHLHB9_ENST00000447531.1_Missense_Mutation_p.L490F|BHLHB9_ENST00000361229.4_Missense_Mutation_p.L490F|BHLHB9_ENST00000448867.1_Missense_Mutation_p.L490F			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	490					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGCAGCATTAAAACTCATCT	0.353																																																0			X											120	117	118					X																	102005393		2203	4300	6503	101892049	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1470A>C	X.37:g.102005393A>C	ENSP00000361820:p.Leu490Phe		101892049	Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.831349	0.32329	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.5	0.762	0.18454	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.37053	N	0.002274	T	0.24774	0.0601	N	0.11845	0.185	0.40740	D	0.982825	B	0.28552	0.215	B	0.35607	0.206	T	0.03443	-1.1036	9	.	.	.	-13.931	3.4168	0.07378	0.5943:0.2031:0.2027:0.0	.	490	Q6PI77	BHLH9_HUMAN	F	490	ENSP00000403226:L490F;ENSP00000354675:L490F;ENSP00000405893:L490F;ENSP00000391722:L490F;ENSP00000361820:L490F	.	L	+	3	2	BHLHB9	101892049	1.000000	0.71417	0.836000	0.33094	0.976000	0.68499	1.261000	0.32980	0.018000	0.15052	0.441000	0.28932	TTA		0.353	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		C	102005393	A	C	102005393	3	2	399	1	0	0	0	0	1	0	0	0	1420	359	13	5	1472	5	BHLHB9	23	102005393	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09	9077767	102005393	53265167	78	21880											
ODZ1	10178	genome.wustl.edu	37	X	124097586	124097586	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:124097586C>T	ENST00000371130.3	-	1	80	c.17G>A	c.(16-18)tGc>tAc	p.C6Y	TENM1_ENST00000422452.2_Missense_Mutation_p.C6Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	6	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTAGGGTTTGCAGTCAGTTTG	0.418																																																0			X											185	165	172					X																	124097586		2203	4300	6503	123925267	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.17G>A	X.37:g.124097586C>T	ENSP00000360171:p.Cys6Tyr		123925267	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393125	0.62066	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.93	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (1);	0.139125	0.48767	D	0.000171	T	0.77082	0.4078	N	0.22421	0.69	0.44660	D	0.997646	P;P;P	0.42785	0.79;0.79;0.79	B;B;B	0.35413	0.202;0.202;0.202	T	0.79574	-0.1747	10	0.49607	T	0.09	.	18.9267	0.92548	0.0:1.0:0.0:0.0	.	6;6;6	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	6	ENSP00000360171:C6Y;ENSP00000403954:C6Y	ENSP00000360171:C6Y	C	-	2	0	ODZ1	123925267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.410000	0.59774	2.417000	0.82017	0.600000	0.82982	TGC		0.418	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	124097586	C	T	124097586	3	4	399	1	0	0	0	0	1	0	0	0	10834	710	25	2	8309	2	ODZ1	23	124097586	Missense_Mutation	SNP	C	TCGA-42-2582-01A-01D-1526-09	22092193	124097586	31172974	79	21881											
SAGE1	55511	genome.wustl.edu	37	X	134993362	134993362	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:134993362A>T	ENST00000370709.3	+	16	2017	c.2017A>T	c.(2017-2019)Act>Tct	p.T673S	SAGE1_ENST00000537770.1_Missense_Mutation_p.T297S|SAGE1_ENST00000535938.1_Missense_Mutation_p.T673S|SAGE1_ENST00000324447.3_Missense_Mutation_p.T673S			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	673						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCACCGCCACTCACAGTGT	0.488																																																0			X											111	95	100					X																	134993362		2203	4300	6503	134821028	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2017A>T	X.37:g.134993362A>T	ENSP00000359743:p.Thr673Ser		134821028	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	A	4.882	0.163877	0.09287	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.43688	0.94;0.94;1.36;0.94	1.65	-1.14	0.09741	.	3.927550	0.02914	U	0.137016	T	0.23492	0.0568	N	0.12746	0.255	0.09310	N	1	P;B	0.36378	0.55;0.395	B;B	0.37833	0.259;0.259	T	0.04320	-1.0960	10	0.28530	T	0.3	.	1.5133	0.02500	0.4733:0.0:0.2172:0.3095	.	297;673	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	S	673;673;297;673	ENSP00000323191:T673S;ENSP00000445959:T673S;ENSP00000438276:T297S;ENSP00000359743:T673S	ENSP00000323191:T673S	T	+	1	0	SAGE1	134821028	0.001000	0.12720	0.005000	0.12908	0.009000	0.06853	0.432000	0.21461	-0.404000	0.07610	-1.111000	0.02071	ACT		0.488	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		T	134993362	A	T	134993362	3	4	399	1	0	0	0	0	1	0	0	0	13812	159	6	5	2079	5	SAGE1	23	134993362	Missense_Mutation	SNP	A	TCGA-42-2582-01A-01D-1526-09	10895776	134993362	20277198	80	21882											
CNGA2	1260	genome.wustl.edu	37	X	150909361	150909361	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2582-01A-01D-1526-09	TCGA-42-2582-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d8e8601-0a6f-4494-8c94-178b53470efe	42baf4ec-a6a6-448d-8c7b-4a7dd2542219	g.chrX:150909361T>A	ENST00000329903.4	+	4	503	c.470T>A	c.(469-471)cTg>cAg	p.L157Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	157					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGGTGCCTGCTGGTGGCC	0.567																																																0			X											126	112	117					X																	150909361		2203	4300	6503	150660017	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.470T>A	X.37:g.150909361T>A	ENSP00000328478:p.Leu157Gln		150660017	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456832	0.84317	.	.	ENSG00000183862	ENST00000329903	D	0.97710	-4.5	5.44	5.44	0.79542	.	0.074256	0.56097	D	0.000038	D	0.97685	0.9241	M	0.67397	2.05	0.40372	D	0.979357	D	0.57899	0.981	P	0.55161	0.77	D	0.98370	1.0553	10	0.87932	D	0	.	12.3202	0.54981	0.0:0.0:0.0:1.0	.	157	Q16280	CNGA2_HUMAN	Q	157	ENSP00000328478:L157Q	ENSP00000328478:L157Q	L	+	2	0	CNGA2	150660017	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	5.968000	0.70413	1.815000	0.52974	0.441000	0.28932	CTG		0.567	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150909361	T	A	150909361	3	1	399	1	0	0	0	0	1	0	0	0	3597	1580	55	5	484	5	CNGA2	23	150909361	Missense_Mutation	SNP	T	TCGA-42-2582-01A-01D-1526-09	15915999	150909361	4361199	81	21883											
CLCN6	1185	genome.wustl.edu	37	1	11879592	11879592	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:11879592G>C	ENST00000346436.6	+	5	379	c.327G>C	c.(325-327)aaG>aaC	p.K109N	CLCN6_ENST00000312413.6_Missense_Mutation_p.K109N|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.K109N|CLCN6_ENST00000376487.3_Missense_Mutation_p.K87N|CLCN6_ENST00000376497.3_Missense_Mutation_p.K109N	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	109					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAACTCAAGTTCGGAGTGG	0.453																																																0			1											262	224	237					1																	11879592		2203	4300	6503	11802179	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.327G>C	1.37:g.11879592G>C	ENSP00000234488:p.Lys109Asn		11802179	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685689	0.47991	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	5.34	4.42	0.53409	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.948;0.98;0.978;0.997	D	0.96782	0.9576	10	0.87932	D	0	-17.1028	13.5733	0.61860	0.0755:0.0:0.9245:0.0	.	87;109;109;109;109	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	N	109;109;109;87;109;109;109;109	ENSP00000308367:K109N;ENSP00000234488:K109N;ENSP00000365680:K109N;ENSP00000365670:K87N;ENSP00000365679:K109N	ENSP00000308367:K109N	K	+	3	2	CLCN6	11802179	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	3.981000	0.56902	1.380000	0.46344	-0.150000	0.13652	AAG		0.453	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		C	11879592	G	C	11879592	3	2	400	1	0	0	0	0	1	0	0	0	3467	1020	36	3	345	3	CLCN6	1	11879592	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09		11879592	237371029	1	21884											
CSMD2	114784	genome.wustl.edu	37	1	34052763	34052763	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:34052763G>C	ENST00000373381.4	-	45	7038	c.6862C>G	c.(6862-6864)Cca>Gca	p.P2288A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2290	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGGTGAGTGGATAAGCTGAA	0.463																																																0			1											91	72	78					1																	34052763		2203	4300	6503	33825350	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.6862C>G	1.37:g.34052763G>C	ENSP00000362479:p.Pro2288Ala		33825350	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	16.06	3.017227	0.54576	.	.	ENSG00000121904	ENST00000373381	T	0.23552	1.9	5.74	5.74	0.90152	CUB (3);	0.124111	0.56097	D	0.000040	T	0.22044	0.0531	L	0.33339	1.005	0.80722	D	1	B;B	0.13594	0.008;0.004	B;B	0.23150	0.019;0.044	T	0.07673	-1.0760	10	0.08837	T	0.75	.	18.9112	0.92485	0.0:0.0:1.0:0.0	.	2290;2288	Q7Z408;E7EUA6	CSMD2_HUMAN;.	A	2288	ENSP00000362479:P2288A	ENSP00000241312:P2290A	P	-	1	0	CSMD2	33825350	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.129000	0.50500	2.717000	0.92951	0.655000	0.94253	CCA		0.463	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		C	34052763	G	C	34052763	3	2	400	1	0	0	0	0	1	0	0	0	3945	1174	41	3	3691	3	CSMD2	1	34052763	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	22173171	34052763	215197858	2	21885											
INADL	10207	genome.wustl.edu	37	1	62271127	62271127	+	Silent	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:62271127C>G	ENST00000371158.2	+	13	1671	c.1557C>G	c.(1555-1557)gtC>gtG	p.V519V	INADL_ENST00000316485.6_Silent_p.V519V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	519					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGAAAAAGTCCCAGACTCTC	0.363																																																0			1											79	85	83					1																	62271127		2203	4300	6503	62043715	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1557C>G	1.37:g.62271127C>G			62043715	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.363	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62271127	C	G	62271127	2	3	400	1	0	0	0	0	0	0	0	1	7731	842	30	3		3	INADL	1	62271127	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09	28218364	62271127	186979494	3	21886											
C1orf59	113802	genome.wustl.edu	37	1	109192951	109192951	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:109192951G>C	ENST00000370032.5	-	7	1058	c.638C>G	c.(637-639)cCa>cGa	p.P213R	HENMT1_ENST00000370031.1_Missense_Mutation_p.P213R|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.P213R	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	213					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TCCAGCTGGTGGTTCCCCGAC	0.433																																																0			1											113	104	107					1																	109192951		2203	4300	6503	108994474	SO:0001583	missense	113802				CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"HEN1 methyltransferase homolog (Arabidopsis)"	612178	"chromosome 1 open reading frame 59"	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.638C>G	1.37:g.109192951G>C	ENSP00000359049:p.Pro213Arg		108994474	A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	CCDS787.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621707	0.46736	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.31247	1.9;1.95;1.9;1.5	5.39	4.47	0.54385	.	0.059788	0.64402	D	0.000002	T	0.32763	0.0840	L	0.34521	1.04	0.54753	D	0.999981	D	0.89917	1.0	D	0.76575	0.988	T	0.03784	-1.1004	10	0.46703	T	0.11	.	13.182	0.59660	0.0781:0.0:0.9219:0.0	.	213	Q5T8I9	HENMT_HUMAN	R	213	ENSP00000385655:P213R;ENSP00000359048:P213R;ENSP00000359049:P213R;ENSP00000403953:P213R	ENSP00000359048:P213R	P	-	2	0	HENMT1	108994474	1.000000	0.71417	0.135000	0.22099	0.029000	0.11900	5.170000	0.64990	2.529000	0.85273	0.655000	0.94253	CCA		0.433	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		C	109192951	G	C	109192951	3	2	400	1	0	0	0	0	1	0	0	0	2051	1348	47	3	551	3	C1orf59	1	109192951	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	46921824	109192951	140057670	4	21887											
WDR47	22911	genome.wustl.edu	37	1	109525396	109525396	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:109525396C>A	ENST00000369962.3	-	12	2323	c.2101G>T	c.(2101-2103)Gat>Tat	p.D701Y	WDR47_ENST00000361054.3_Missense_Mutation_p.D673Y|WDR47_ENST00000400794.3_Missense_Mutation_p.D709Y|WDR47_ENST00000369965.4_Missense_Mutation_p.D702Y|WDR47_ENST00000357672.3_Missense_Mutation_p.D673Y			O94967	WDR47_HUMAN	WD repeat domain 47	701					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AATTCCAGATCTGGTCCTGAA	0.378																																																0			1											56	59	58					1																	109525396		2203	4300	6503	109326919	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2101G>T	1.37:g.109525396C>A	ENSP00000358979:p.Asp701Tyr		109326919	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515378	0.85389	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58060	0.36;0.4;0.36;0.36;0.36	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.097019	0.64402	D	0.000001	T	0.43787	0.1263	N	0.22421	0.69	0.80722	D	1	D;D;P	0.57571	0.98;0.979;0.935	P;P;P	0.53809	0.547;0.707;0.735	T	0.51036	-0.8756	10	0.72032	D	0.01	-13.9671	17.0163	0.86420	0.0:1.0:0.0:0.0	.	709;701;702	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	Y	709;701;673;702;673	ENSP00000383599:D709Y;ENSP00000358979:D701Y;ENSP00000354339:D673Y;ENSP00000358982:D702Y;ENSP00000350301:D673Y	ENSP00000350301:D673Y	D	-	1	0	WDR47	109326919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.452000	0.82932	0.561000	0.74099	GAT		0.378	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		A	109525396	C	A	109525396	3	1	400	1	0	0	0	0	1	0	0	0	17300	913	32	3	674	3	WDR47	1	109525396	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	332445	109525396	139725225	5	21888											
PDE4DIP	9659	genome.wustl.edu	37	1	144994641	144994641	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:144994641C>G	ENST00000369354.3	-	1	280	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E31Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.E168Q|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.E31Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E168Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E168Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E31Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E97Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E31Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	31					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCATGCGCTCCTCCAGGAAG	0.592			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			1											166	144	151					1																	144994641		2203	4300	6503	143705998	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.91G>C	1.37:g.144994641C>G	ENSP00000358360:p.Glu31Gln		143705998	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492954	0.96339	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000531369	T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	Spindle associated (1);	.	.	.	.	T	0.48909	0.1526	M	0.66506	2.035	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.994;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.984;0.999;0.993;0.998;0.998;0.999	T	0.48399	-0.9039	9	0.87932	D	0	.	17.5005	0.87730	0.0:1.0:0.0:0.0	.	31;97;31;168;97;34;31	Q5VU43-7;Q5VU43-3;Q5VU43;E9PJ64;E9PQH9;E9PS60;Q5VU43-10	.;.;MYOME_HUMAN;.;.;.;.	Q	97;31;31;168;168;31;31;97;34;31;168;98	ENSP00000327209:E97Q;ENSP00000358360:E31Q;ENSP00000358363:E31Q;ENSP00000435654:E168Q;ENSP00000358366:E168Q;ENSP00000358357:E31Q;ENSP00000358355:E31Q;ENSP00000435920:E34Q;ENSP00000358353:E31Q;ENSP00000358354:E168Q;ENSP00000435616:E98Q	ENSP00000327209:E97Q	E	-	1	0	PDE4DIP	143705998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.708000	0.84633	2.731000	0.93534	0.650000	0.86243	GAG		0.592	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144994641	C	G	144994641	3	3	400	1	0	0	0	0	1	0	0	0	11643	864	30	3	8268	3	PDE4DIP	1	144994641	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	35469245	144994641	104255980	6	21889											
ANKRD34A	284615	genome.wustl.edu	37	1	145474108	145474108	+	Silent	SNP	A	A	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:145474108A>T	ENST00000323397.4	+	4	2073	c.780A>T	c.(778-780)ccA>ccT	p.P260P	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	260	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCAGTCCCACCCACTGAAG	0.632																																																0			1											48	55	53					1																	145474108		2203	4300	6503	144185465	SO:0001819	synonymous_variant	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.780A>T	1.37:g.145474108A>T			144185465	B3KSU3	Silent	SNP	ENST00000323397.4	37	CCDS30829.1																																																																																				0.632	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			T	145474108	A	T	145474108	2	4	400	1	0	0	0	0	0	0	0	1	662	146	6	5		5	ANKRD34A	1	145474108	Silent	SNP	A	TCGA-42-2587-01A-01D-1526-09	479467	145474108	103776513	7	21890											
DAP3	7818	genome.wustl.edu	37	1	155701179	155701179	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:155701179C>G	ENST00000368336.5	+	10	1000	c.876C>G	c.(874-876)aaC>aaG	p.N292K	DAP3_ENST00000535183.1_Missense_Mutation_p.N251K|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.N292K|DAP3_ENST00000421487.2_Missense_Mutation_p.N258K|DAP3_ENST00000471642.2_Missense_Mutation_p.N251K	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	292					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTGTTCACAACTTGAGGAAAA	0.368																																																0			1											147	138	141					1																	155701179		2203	4300	6503	153967803	SO:0001583	missense	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.876C>G	1.37:g.155701179C>G	ENSP00000357320:p.Asn292Lys		153967803	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065243	0.55432	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.1	-0.299	0.12808	.	0.097480	0.64402	D	0.000002	T	0.42539	0.1207	M	0.74881	2.28	0.48830	D	0.999713	P;P;P;D	0.55605	0.927;0.784;0.784;0.972	P;P;P;P	0.61275	0.744;0.744;0.744;0.886	T	0.41805	-0.9488	10	0.40728	T	0.16	-9.5439	9.1833	0.37154	0.0:0.4855:0.0:0.5145	.	251;258;258;292	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	K	292;292;258;251	ENSP00000357320:N292K;ENSP00000341692:N292K;ENSP00000412605:N258K;ENSP00000445003:N251K	ENSP00000341692:N292K	N	+	3	2	DAP3	153967803	0.807000	0.29009	0.520000	0.27837	0.768000	0.43524	-0.050000	0.11904	0.056000	0.16144	0.563000	0.77884	AAC		0.368	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		G	155701179	C	G	155701179	3	3	400	1	0	0	0	0	1	0	0	0	4234	564	20	3	910	3	DAP3	1	155701179	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	10227071	155701179	93549442	8	21891											
FCRL4	83417	genome.wustl.edu	37	1	157559023	157559023	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:157559023C>T	ENST00000271532.1	-	3	413	c.278G>A	c.(277-279)aGt>aAt	p.S93N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	93	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CACAGGGTTACTTCGTGGGGA	0.502																																																0			1											73	77	76					1																	157559023		2203	4300	6503	155825647	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.278G>A	1.37:g.157559023C>T	ENSP00000271532:p.Ser93Asn		155825647	Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184234	0.57800	.	.	ENSG00000163518	ENST00000271532	T	0.19806	2.12	4.2	4.2	0.49525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001109	T	0.48132	0.1483	H	0.96175	3.78	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52238	-0.8602	10	0.72032	D	0.01	.	12.2383	0.54528	0.0:1.0:0.0:0.0	.	93	Q96PJ5	FCRL4_HUMAN	N	93	ENSP00000271532:S93N	ENSP00000271532:S93N	S	-	2	0	FCRL4	155825647	0.117000	0.22190	0.055000	0.19348	0.033000	0.12548	1.970000	0.40520	2.311000	0.77944	0.557000	0.71058	AGT		0.502	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		T	157559023	C	T	157559023	3	4	400	1	0	0	0	0	1	0	0	0	5797	565	20	2	1309	2	FCRL4	1	157559023	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	1857844	157559023	91691598	9	21892											
FCRL3	115352	genome.wustl.edu	37	1	157666105	157666105	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:157666105G>C	ENST00000368184.3	-	7	1148	c.857C>G	c.(856-858)tCt>tGt	p.S286C	FCRL3_ENST00000368186.5_Missense_Mutation_p.S286C|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	286	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATTCACATTAGACACAGGGAC	0.527																																																0			1											72	70	71					1																	157666105		2203	4300	6503	155932729	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.857C>G	1.37:g.157666105G>C	ENSP00000357167:p.Ser286Cys		155932729	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453039	0.43531	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.53423	0.62;0.62	5.22	5.22	0.72569	Immunoglobulin-like (1);	0.474951	0.16711	N	0.202670	T	0.69333	0.3099	M	0.93375	3.41	0.28599	N	0.909244	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.984;0.971;0.993	T	0.68845	-0.5301	10	0.56958	D	0.05	.	14.2682	0.66135	0.0:0.0:1.0:0.0	.	286;191;286	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	C	286	ENSP00000357169:S286C;ENSP00000357167:S286C	ENSP00000292392:S286C	S	-	2	0	FCRL3	155932729	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	4.547000	0.60712	2.434000	0.82447	0.561000	0.74099	TCT		0.527	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		C	157666105	G	C	157666105	3	2	400	1	0	0	0	0	1	0	0	0	5796	942	33	3	1383	3	FCRL3	1	157666105	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	107082	157666105	91584516	10	21893											
MYOC	4653	genome.wustl.edu	37	1	171621198	171621198	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:171621198C>T	ENST00000037502.6	-	1	625	c.554G>A	c.(553-555)tGt>tAt	p.C185Y		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	185					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGTCTGGGGACACTGGCCCCT	0.572																																																0			1											170	183	178					1																	171621198		2203	4300	6503	169887821	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.554G>A	1.37:g.171621198C>T	ENSP00000037502:p.Cys185Tyr		169887821	B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016913	0.75161	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.85955	-2.05	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	M	0.77103	2.36	0.58432	D	0.999998	D;D	0.89917	0.995;1.0	P;D	0.63703	0.903;0.917	D	0.89208	0.3562	10	0.45353	T	0.12	.	15.4284	0.75072	0.0:1.0:0.0:0.0	.	127;185	B4DV44;Q99972	.;MYOC_HUMAN	Y	185;138;118;185	ENSP00000037502:C185Y	ENSP00000037502:C185Y	C	-	2	0	MYOC	169887821	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.592000	0.53993	2.726000	0.93360	0.655000	0.94253	TGT		0.572	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		T	171621198	C	T	171621198	3	4	400	1	0	0	0	0	1	0	0	0	10086	478	17	2	972	2	MYOC	1	171621198	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	13955093	171621198	77629423	11	21894											
ANGPTL1	9068	genome.wustl.edu	37	1	178834753	178834753	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:178834753G>A	ENST00000234816.2	-	3	606	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ANGPTL1_ENST00000367629.1_Silent_p.F53F|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	53					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CAGGTACCAGGAATGTGTATG	0.413																																																0			1											239	177	198					1																	178834753		2203	4300	6503	177101376	SO:0001819	synonymous_variant	9068			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.159C>T	1.37:g.178834753G>A			177101376	Q5T5Z5	Silent	SNP	ENST00000234816.2	37	CCDS1327.1																																																																																				0.413	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		A	178834753	G	A	178834753	2	1	400	1	0	0	0	0	0	0	0	1	613	1165	41	2		2	ANGPTL1	1	178834753	Silent	SNP	G	TCGA-42-2587-01A-01D-1526-09	7213555	178834753	70415868	12	21895											
CDC73	79577	genome.wustl.edu	37	1	193099331	193099331	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:193099331C>G	ENST00000367435.3	+	3	449	c.265C>G	c.(265-267)Cct>Gct	p.P89A		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	89					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GGTTAGAAGACCTGATCGAAA	0.299																																																0			1											133	137	136					1																	193099331		2203	4300	6503	191365954	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.265C>G	1.37:g.193099331C>G	ENSP00000356405:p.Pro89Ala		191365954	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059644	0.93846	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.85484	-1.99	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.88490	0.3075	10	0.15952	T	0.53	-17.4468	19.6662	0.95894	0.0:1.0:0.0:0.0	.	89	Q6P1J9	CDC73_HUMAN	A	89	ENSP00000356405:P89A	ENSP00000356405:P89A	P	+	1	0	CDC73	191365954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.721000	0.84768	2.649000	0.89929	0.561000	0.74099	CCT		0.299	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		G	193099331	C	G	193099331	3	3	400	1	0	0	0	0	1	0	0	0	3085	507	18	3	275	3	CDC73	1	193099331	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	14264578	193099331	56151290	13	21896											
RNPEP	6051	genome.wustl.edu	37	1	201965318	201965318	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:201965318G>C	ENST00000295640.4	+	4	824	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000367286.3_Intron	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	261					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGCTGCCAAGGAGGAGTACAA	0.493																																					GBM(19;39 479 7473 13131 19462)											0			1											207	190	196					1																	201965318		2203	4300	6503	200231941	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.781G>C	1.37:g.201965318G>C	ENSP00000295640:p.Glu261Gln		200231941	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	2.703	-0.270597	0.05716	.	.	ENSG00000176393	ENST00000295640;ENST00000447312;ENST00000449524	T;T;T	0.02656	4.21;4.21;4.21	5.3	-1.19	0.09585	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.510233	0.19866	N	0.104308	T	0.01558	0.0050	N	0.05306	-0.075	0.80722	D	1	B;B	0.12630	0.0;0.006	B;B	0.19666	0.01;0.026	T	0.55302	-0.8162	10	0.19147	T	0.46	-8.4612	11.0055	0.47631	0.5923:0.0:0.4077:0.0	.	269;261	Q7RU04;Q9H4A4	.;AMPB_HUMAN	Q	261;130;7	ENSP00000295640:E261Q;ENSP00000389602:E130Q;ENSP00000407614:E7Q	ENSP00000295640:E261Q	E	+	1	0	RNPEP	200231941	0.983000	0.35010	0.747000	0.31113	0.219000	0.24729	0.230000	0.17852	-0.563000	0.06078	-1.105000	0.02106	GAG		0.493	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		C	201965318	G	C	201965318	3	2	400	1	0	0	0	0	1	0	0	0	13512	1175	41	3	795	3	RNPEP	1	201965318	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	8865987	201965318	47285303	14	21897											
IARS2	55699	genome.wustl.edu	37	1	220267775	220267775	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:220267775A>G	ENST00000302637.5	+	1	321	c.217A>G	c.(217-219)Atg>Gtg	p.M73V	IARS2_ENST00000366922.1_Start_Codon_SNP_p.M1V	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	73					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GAGCTTCCCCATGAAGCTGCT	0.697																																																0			1											10	15	13					1																	220267775		2153	4212	6365	218334398	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.217A>G	1.37:g.220267775A>G	ENSP00000303279:p.Met73Val		218334398	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281315	0.59758	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.44083	2.08;0.93	4.28	4.28	0.50868	.	0.187133	0.56097	D	0.000028	T	0.46521	0.1397	M	0.89214	3.015	0.39121	D	0.961655	B	0.13145	0.007	B	0.09377	0.004	T	0.56679	-0.7939	10	0.87932	D	0	-0.0428	6.5318	0.22332	0.8513:0.0:0.1487:0.0	.	73	Q9NSE4	SYIM_HUMAN	V	1;73	ENSP00000355889:M1V;ENSP00000303279:M73V	ENSP00000303279:M73V	M	+	1	0	IARS2	218334398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.772000	0.62324	1.784000	0.52394	0.482000	0.46254	ATG		0.697	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		G	220267775	A	G	220267775	3	3	400	1	0	0	0	0	1	0	0	0	7474	217	8	4	219	4	IARS2	1	220267775	Missense_Mutation	SNP	A	TCGA-42-2587-01A-01D-1526-09	18302457	220267775	28982846	15	21898											
C1orf65	164127	genome.wustl.edu	37	1	223566876	223566876	+	Missense_Mutation	SNP	G	G	A	rs75945379	byFrequency	TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:223566876G>A	ENST00000366875.3	+	1	162	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		20										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAACCCCCGCGGCCCGGCGGA	0.736													G|||	406	0.0810703	0.0832	0.0648	5008	,	,		10145	0.131		0.0398	False		,,,				2504	0.0808															0			1						G	GLN/ARG	233,3717		5,223,1747	4	6	5		59	-0.5	0	1	dbSNP_131	5	244,7682		2,240,3721	yes	missense	C1orf65	NM_152610.2	43	7,463,5468	AA,AG,GG		3.0785,5.8987,4.0165	possibly-damaging	20/624	223566876	477,11399	1975	3963	5938	221633499	SO:0001583	missense	164127																														ENST00000366875.3:c.59G>A	1.37:g.223566876G>A	ENSP00000355840:p.Arg20Gln		221633499	Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	136	0.06227106227106227	27	0.054878048780487805	17	0.04696132596685083	65	0.11363636363636363	27	0.03562005277044855	G	9.585	1.124649	0.20959	0.058987	0.030785	ENSG00000178395	ENST00000366875	T	0.17854	2.25	3.7	-0.51	0.11973	.	.	.	.	.	T	0.00109	0.0003	N	0.14661	0.345	0.80722	P	0.0	P	0.44006	0.824	B	0.28916	0.096	T	0.37957	-0.9683	8	0.16896	T	0.51	.	3.9747	0.09468	0.0:0.4708:0.1905:0.3387	.	20	Q8N715	CA065_HUMAN	Q	20	ENSP00000355840:R20Q	ENSP00000355840:R20Q	R	+	2	0	C1orf65	221633499	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.361000	0.07612	-0.318000	0.08665	-1.097000	0.02148	CGG		0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			A	223566876	G	A	223566876	3	1	400	1	0	0	0	0	1	0	0	0	2055	1116	39	1	61	1	C1orf65	1	223566876	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	3299101	223566876	25683745	16	21899											
OR2T6	254879	genome.wustl.edu	37	1	248551628	248551628	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:248551628C>A	ENST00000355728.2	+	1	719	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTTTGCCACCTGCTCTTCA	0.507																																																0			1											274	228	244					1																	248551628		2203	4300	6503	246618251	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.719C>A	1.37:g.248551628C>A	ENSP00000347965:p.Thr240Asn		246618251	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582462	0.65992	.	.	ENSG00000198104	ENST00000355728	T	0.40476	1.03	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000268	T	0.75889	0.3911	H	0.96604	3.85	0.51482	D	0.999922	D	0.89917	1.0	D	0.85130	0.997	D	0.85598	0.1250	10	0.87932	D	0	.	16.2973	0.82783	0.0:1.0:0.0:0.0	.	240	Q8NHC8	OR2T6_HUMAN	N	240	ENSP00000347965:T240N	ENSP00000347965:T240N	T	+	2	0	OR2T6	246618251	0.994000	0.37717	0.996000	0.52242	0.578000	0.36192	2.956000	0.49129	2.237000	0.73441	0.643000	0.83706	ACC		0.507	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		A	248551628	C	A	248551628	3	1	400	1	0	0	0	0	1	0	0	0	11029	507	18	3	721	3	OR2T6	1	248551628	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	24984752	248551628	698993	17	21900											
MAP4K3	8491	genome.wustl.edu	37	2	39487854	39487854	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:39487854T>C	ENST00000263881.3	-	29	2525	c.2201A>G	c.(2200-2202)gAg>gGg	p.E734G	MAP4K3_ENST00000437545.1_Missense_Mutation_p.E650G|MAP4K3_ENST00000341681.5_Missense_Mutation_p.E713G|MAP4K3_ENST00000536018.1_Missense_Mutation_p.E287G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	734	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAAAGGGTACTCCTGTTCAGG	0.383																																																0			2											88	85	86					2																	39487854		2203	4300	6503	39341358	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2201A>G	2.37:g.39487854T>C	ENSP00000263881:p.Glu734Gly		39341358	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408019	0.62399	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000542094;ENST00000536018	T;T;T;T	0.77750	-1.12;-0.95;-1.09;1.78	4.98	4.98	0.66077	Citron-like (3);	0.332441	0.36034	N	0.002829	D	0.83257	0.5215	M	0.80616	2.505	0.52501	D	0.999953	P;P	0.41366	0.747;0.635	P;P	0.47299	0.543;0.515	D	0.86203	0.1620	10	0.87932	D	0	.	14.8351	0.70177	0.0:0.0:0.0:1.0	.	713;734	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	G	734;650;713;30;287	ENSP00000263881:E734G;ENSP00000416958:E650G;ENSP00000345434:E713G;ENSP00000440580:E287G	ENSP00000263881:E734G	E	-	2	0	MAP4K3	39341358	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.796000	0.62496	2.085000	0.62840	0.533000	0.62120	GAG		0.383	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		C	39487854	T	C	39487854	3	2	400	1	0	0	0	0	1	0	0	0	9261	1551	54	4	507	4	MAP4K3	2	39487854	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09		39487854	203711519	18	21901											
LRP2	4036	genome.wustl.edu	37	2	170062940	170062940	+	Silent	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:170062940A>G	ENST00000263816.3	-	39	7575	c.7290T>C	c.(7288-7290)agT>agC	p.S2430S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2430					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGATTCTATCACTTACACTGT	0.428																																																0			2											86	89	88					2																	170062940		2203	4300	6503	169771186	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7290T>C	2.37:g.170062940A>G			169771186	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170062940	A	G	170062940	2	3	400	1	0	0	0	0	0	0	0	1	8956	156	6	4		4	LRP2	2	170062940	Silent	SNP	A	TCGA-42-2587-01A-01D-1526-09	130575086	170062940	73136433	19	21902											
PDK1	5163	genome.wustl.edu	37	2	173431632	173431632	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:173431632C>G	ENST00000282077.3	+	6	922	c.740C>G	c.(739-741)tCt>tGt	p.S247C	PDK1_ENST00000544863.1_Missense_Mutation_p.S92C|PDK1_ENST00000543905.1_Missense_Mutation_p.S171C|PDK1_ENST00000410055.1_Missense_Mutation_p.S247C|PDK1_ENST00000392571.2_Missense_Mutation_p.S267C			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	247	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TATATTAACTCTCCCGAACTA	0.303									Autosomal Dominant Polycystic Kidney Disease																																							0			2											152	152	152					2																	173431632		2203	4300	6503	173139878	SO:0001583	missense	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"pyruvate dehydrogenase kinase, isoenzyme 1"			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.740C>G	2.37:g.173431632C>G	ENSP00000282077:p.Ser247Cys		173139878	B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190830	0.58017	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991	T;T;T;T;T;T	0.65364	0.85;-0.15;1.17;1.16;1.17;-0.15	5.4	5.4	0.78164	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.71920	2.185	0.80722	D	1	P;B	0.46578	0.88;0.109	P;B	0.51135	0.66;0.092	T	0.74743	-0.3562	10	0.62326	D	0.03	-18.0397	15.5207	0.75862	0.0:0.8615:0.1384:0.0	.	247;267	Q15118;E9PD65	PDK1_HUMAN;.	C	171;92;247;267;247;165	ENSP00000438567:S171C;ENSP00000437502:S92C;ENSP00000282077:S247C;ENSP00000376352:S267C;ENSP00000386985:S247C;ENSP00000399160:S165C	ENSP00000282077:S247C	S	+	2	0	PDK1	173139878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.844000	0.62846	2.535000	0.85469	0.655000	0.94253	TCT		0.303	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		G	173431632	C	G	173431632	3	3	400	1	0	0	0	0	1	0	0	0	11675	913	32	3	762	3	PDK1	2	173431632	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	3368692	173431632	69767741	20	21903											
STAT4	6775	genome.wustl.edu	37	2	191898662	191898662	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:191898662G>T	ENST00000392320.2	-	19	2004	c.1690C>A	c.(1690-1692)Cac>Aac	p.H564N	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000470708.1_5'Flank|STAT4_ENST00000358470.4_Missense_Mutation_p.H564N	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	564					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGAAGAATGTGTTTCTTAATT	0.313																																																0			2											131	138	136					2																	191898662		2203	4297	6500	191606907	SO:0001583	missense	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1690C>A	2.37:g.191898662G>T	ENSP00000376134:p.His564Asn		191606907	Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017088	0.75161	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.80304	-1.36;-1.36	5.65	5.65	0.86999	p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.047245	0.85682	D	0.000000	D	0.85427	0.5694	M	0.77712	2.385	0.80722	D	1	D;D;D	0.56521	0.976;0.976;0.976	P;P;P	0.51945	0.685;0.595;0.685	D	0.86897	0.2052	10	0.72032	D	0.01	-12.754	13.32	0.60428	0.0725:0.0:0.9275:0.0	.	473;564;564	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	N	564	ENSP00000351255:H564N;ENSP00000376134:H564N	ENSP00000351255:H564N	H	-	1	0	STAT4	191606907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.292000	0.51772	2.821000	0.97095	0.650000	0.86243	CAC		0.313	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		T	191898662	G	T	191898662	3	4	400	1	0	0	0	0	1	0	0	0	15269	1377	48	3	580	3	STAT4	2	191898662	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	18467030	191898662	51300711	21	21904											
MDH1B	130752	genome.wustl.edu	37	2	207619911	207619911	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:207619911C>A	ENST00000374412.3	-	5	1007	c.732G>T	c.(730-732)gaG>gaT	p.E244D	MDH1B_ENST00000449792.1_Missense_Mutation_p.E146D|MDH1B_ENST00000454776.2_Missense_Mutation_p.E244D|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	244					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GAGCATTTTTCTCTATCAGGT	0.507																																					Pancreas(76;29 1355 28675 37177 51207)											0			2											87	81	83					2																	207619911		2203	4300	6503	207328156	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.732G>T	2.37:g.207619911C>A	ENSP00000363533:p.Glu244Asp		207328156	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915256	0.33815	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.08546	3.08;3.08;3.08	5.68	3.78	0.43462	NAD(P)-binding domain (1);	0.099426	0.64402	D	0.000001	T	0.07773	0.0195	L	0.49640	1.575	0.80722	D	1	B;B	0.17268	0.021;0.012	B;B	0.24541	0.054;0.024	T	0.20773	-1.0265	10	0.23302	T	0.38	-29.0857	5.0262	0.14385	0.1202:0.6276:0.1169:0.1353	.	244;244	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	D	244;146;244	ENSP00000363533:E244D;ENSP00000416577:E146D;ENSP00000389916:E244D	ENSP00000363533:E244D	E	-	3	2	MDH1B	207328156	0.982000	0.34865	0.836000	0.33094	0.009000	0.06853	0.184000	0.16939	1.530000	0.49136	0.650000	0.86243	GAG		0.507	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		A	207619911	C	A	207619911	3	1	400	1	0	0	0	0	1	0	0	0	9409	912	32	3	856	3	MDH1B	2	207619911	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	15721249	207619911	35579462	22	21905											
AAMP	14	genome.wustl.edu	37	2	219134725	219134725	+	Nonsense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:219134725C>A	ENST00000248450.4	-	1	255	c.85G>T	c.(85-87)Gag>Tag	p.E29*	AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000273077.4_5'Flank|PNKD_ENST00000248451.3_5'Flank|AAMP_ENST00000444053.1_Nonsense_Mutation_p.E29*			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	29					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACCACCTCGATAATCTCT	0.632																																																0			2											136	148	144					2																	219134725		2203	4300	6503	218842969	SO:0001587	stop_gained	14			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.85G>T	2.37:g.219134725C>A	ENSP00000248450:p.Glu29*		218842969	Q8WUJ9|Q96H92	Nonsense_Mutation	SNP	ENST00000248450.4	37	CCDS33378.1	.	.	.	.	.	.	.	.	.	.	C	36	5.918258	0.97105	.	.	ENSG00000127837	ENST00000248450;ENST00000444053	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5588	15.2759	0.73742	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000248450:E29X	E	-	1	0	AAMP	218842969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.006000	0.63978	2.624000	0.88883	0.655000	0.94253	GAG		0.632	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		A	219134725	C	A	219134725	4	1	400	1	0	0	0	0	0	1	0	0	17	893	31	3	1263	3	AAMP	2	219134725	Nonsense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	11514814	219134725	24064648	23	21906											
UGT1A1	54658	genome.wustl.edu	37	2	234669339	234669339	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:234669339C>G	ENST00000608383.1	+	1	406	c.406C>G	c.(406-408)Ctc>Gtc	p.L136V	UGT1A1_ENST00000360418.3_Missense_Mutation_p.L136V|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.L136V|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	136					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CAACAAGGAGCTCATGGCCTC	0.498																																																0			2											129	127	128					2																	234669339		2203	4300	6503	234334078	SO:0001583	missense	54658			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.406C>G	2.37:g.234669339C>G	ENSP00000476741:p.Leu136Val		234334078	A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399626	0.62177	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.62105	0.05;0.05	6.16	-1.63	0.08345	.	.	.	.	.	T	0.68915	0.3053	M	0.72576	2.205	0.20403	N	0.999902	P;B	0.41546	0.754;0.325	P;B	0.59115	0.852;0.248	T	0.61222	-0.7106	9	0.66056	D	0.02	.	1.9582	0.03381	0.1053:0.3543:0.227:0.3134	.	136;136	A6NJC3;P22309	.;UD11_HUMAN	V	136	ENSP00000304845:L136V;ENSP00000353593:L136V	ENSP00000304845:L136V	L	+	1	0	UGT1A1	234334078	0.000000	0.05858	0.675000	0.29917	0.994000	0.84299	-0.212000	0.09319	-0.368000	0.08040	0.650000	0.86243	CTC		0.498	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				G	234669339	C	G	234669339	3	3	400	1	0	0	0	0	1	0	0	0	16944	797	28	3	408	3	UGT1A1	2	234669339	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	15534614	234669339	8530034	24	21907											
SLC6A1	6529	genome.wustl.edu	37	3	11059642	11059642	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr3:11059642C>A	ENST00000287766.4	+	4	773	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	118					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GGTATGGAAGCTGGCTCCTAT	0.602																																																0			3											116	128	124					3																	11059642		2203	4300	6503	11034642	SO:0001583	missense	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.352C>A	3.37:g.11059642C>A	ENSP00000287766:p.Leu118Met		11034642	Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147536	0.57151	.	.	ENSG00000157103	ENST00000287766	T	0.76316	-1.01	4.07	3.19	0.36642	.	0.086634	0.46758	D	0.000268	T	0.82042	0.4951	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.81861	-0.0738	10	0.87932	D	0	.	8.4508	0.32869	0.0:0.8215:0.0:0.1785	.	118	P30531	SC6A1_HUMAN	M	118	ENSP00000287766:L118M	ENSP00000287766:L118M	L	+	1	2	SLC6A1	11034642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.367000	0.34204	1.062000	0.40625	0.563000	0.77884	CTG		0.602	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		A	11059642	C	A	11059642	3	1	400	1	0	0	0	0	1	0	0	0	14676	796	28	3	358	3	SLC6A1	3	11059642	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09		11059642	186962788	25	21908											
ABHD14B	84836	genome.wustl.edu	37	3	52003497	52003497	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr3:52003497T>C	ENST00000483233.1	-	5	1084	c.578A>G	c.(577-579)gAc>gGc	p.D193G	RP11-155D18.14_ENST00000489595.2_Intron|PCBP4_ENST00000355852.2_5'Flank|PCBP4_ENST00000428823.2_5'Flank|ABHD14B_ENST00000461108.1_3'UTR|ABHD14B_ENST00000361143.5_Missense_Mutation_p.D193G|ABHD14B_ENST00000525795.1_Missense_Mutation_p.D193G|PCBP4_ENST00000484633.1_5'Flank|PCBP4_ENST00000461554.1_5'Flank|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000315877.10_Missense_Mutation_p.D191G|ABHD14B_ENST00000395008.2_Missense_Mutation_p.D193G|PCBP4_ENST00000395013.3_5'Flank|RP11-155D18.12_ENST00000488257.1_RNA			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	193					metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		CTCTGGTTTGTCCAGGTAACA	0.642																																																0			3											76	80	78					3																	52003497		2203	4300	6503	51978537	SO:0001583	missense	84836			AK075112	CCDS2842.1	3p21.2	2009-01-12			ENSG00000114779	ENSG00000114779		"Abhydrolase domain containing"	28235	protein-coding gene	gene with protein product							Standard	NM_032750		Approved	MGC15429, CIB	uc011bdy.2	Q96IU4	OTTHUMG00000157816	ENST00000483233.1:c.578A>G	3.37:g.52003497T>C	ENSP00000420065:p.Asp193Gly		51978537	Q86VK8|Q8N8W5	Missense_Mutation	SNP	ENST00000483233.1	37	CCDS2842.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.936116	0.92458	.	.	ENSG00000114779	ENST00000483233;ENST00000315877;ENST00000395008;ENST00000361143;ENST00000439982;ENST00000525795	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	D	0.88773	0.3265	9	0.87932	D	0	-27.9215	15.1933	0.73063	0.0:0.0:0.0:1.0	.	113;193	B4DKK0;Q96IU4	.;ABHEB_HUMAN	G	193;191;193;193;168;193	.	ENSP00000318248:D191G	D	-	2	0	ABHD14B	51978537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.080000	0.62538	0.402000	0.26972	GAC		0.642	ABHD14B-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349673.1	NM_032750		C	52003497	T	C	52003497	3	2	400	1	0	0	0	0	1	0	0	0	80	1667	58	4	58	4	ABHD14B	3	52003497	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	40943855	52003497	146018933	26	21909											
OR5AC2	81050	genome.wustl.edu	37	3	97806545	97806545	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr3:97806545C>T	ENST00000358642.2	+	1	529	c.529C>T	c.(529-531)Cat>Tat	p.H177Y		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TAACATAATACATTATTTCTA	0.318																																																0			3											77	82	81					3																	97806545		2203	4300	6503	99289235	SO:0001583	missense	81050			AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.529C>T	3.37:g.97806545C>T	ENSP00000351466:p.His177Tyr		99289235		Missense_Mutation	SNP	ENST00000358642.2	37	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838040	0.50951	.	.	ENSG00000196578	ENST00000358642	T	0.00198	8.57	5.15	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.281711	0.19799	U	0.105793	T	0.00356	0.0011	M	0.67517	2.055	0.09310	N	0.999999	D	0.55385	0.971	P	0.62560	0.904	T	0.47799	-0.9089	10	0.66056	D	0.02	-1.4115	4.4256	0.11501	0.1582:0.6033:0.1532:0.0853	.	177	Q9NZP5	O5AC2_HUMAN	Y	177	ENSP00000351466:H177Y	ENSP00000351466:H177Y	H	+	1	0	OR5AC2	99289235	0.000000	0.05858	0.938000	0.37757	0.737000	0.42083	-0.425000	0.07017	0.575000	0.29434	0.590000	0.80494	CAT		0.318	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			T	97806545	C	T	97806545	3	4	400	1	0	0	0	0	1	0	0	0	11141	478	17	2	531	2	OR5AC2	3	97806545	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	45803048	97806545	100215885	27	21910											
MASP1	5648	genome.wustl.edu	37	3	186971048	186971048	+	Missense_Mutation	SNP	G	G	C	rs544747775		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr3:186971048G>C	ENST00000337774.5	-	6	1189	c.800C>G	c.(799-801)cCc>cGc	p.P267R	MASP1_ENST00000169293.6_Missense_Mutation_p.P267R|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.P267R|MASP1_ENST00000392470.2_Missense_Mutation_p.P241R|MASP1_ENST00000392472.2_Missense_Mutation_p.P154R	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	267	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGTGCTGATGGGTTCTGGGGC	0.512																																																0			3											197	209	205					3																	186971048		2203	4300	6503	188453742	SO:0001583	missense	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.800C>G	3.37:g.186971048G>C	ENSP00000336792:p.Pro267Arg		188453742	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	6.109	0.388437	0.11581	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.63	0.488	0.16848	CUB (5);	0.429876	0.25227	N	0.032184	T	0.06371	0.0164	N	0.17312	0.475	0.26941	N	0.966252	B;B;B;B;B	0.13145	0.0;0.001;0.003;0.0;0.007	B;B;B;B;B	0.14578	0.001;0.002;0.004;0.001;0.011	T	0.30851	-0.9964	10	0.09338	T	0.73	.	1.3587	0.02187	0.1604:0.2585:0.3522:0.2289	.	241;267;154;267;267	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	R	267;267;154;154;267;241	ENSP00000336792:P267R;ENSP00000296280:P267R;ENSP00000376264:P154R;ENSP00000169293:P267R;ENSP00000376262:P241R	ENSP00000169293:P267R	P	-	2	0	MASP1	188453742	0.005000	0.15991	0.998000	0.56505	0.993000	0.82548	0.411000	0.21115	0.409000	0.25649	0.655000	0.94253	CCC		0.512	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		C	186971048	G	C	186971048	3	2	400	1	0	0	0	0	1	0	0	0	9322	1232	43	3	2288	3	MASP1	3	186971048	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	89164503	186971048	11051382	28	21911											
WFS1	7466	genome.wustl.edu	37	4	6296894	6296894	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:6296894A>G	ENST00000226760.1	+	7	1009	c.839A>G	c.(838-840)gAg>gGg	p.E280G	WFS1_ENST00000503569.1_Missense_Mutation_p.E280G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	280					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AAGAGCCCTGAGGACCTGCCA	0.622																																																0			4											56	51	53					4																	6296894		2203	4300	6503	6347795	SO:0001583	missense	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.839A>G	4.37:g.6296894A>G	ENSP00000226760:p.Glu280Gly		6347795	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	CCDS3386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.59|16.59	3.164602|3.164602	0.57476|0.57476	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000503569;ENST00000226760|ENST00000506362	D;D|.	0.94092|.	-3.35;-3.35|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	0.182907|.	0.47852|.	D|.	0.000217|.	T|T	0.59715|0.59715	0.2214|0.2214	L|L	0.47716|0.47716	1.5|1.5	0.41965|0.41965	D|D	0.990728|0.990728	P|.	0.48640|.	0.913|.	P|.	0.45610|.	0.487|.	T|T	0.58418|0.58418	-0.7640|-0.7640	10|5	0.51188|.	T|.	0.08|.	-34.8873|-34.8873	12.729|12.729	0.57187|0.57187	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	280|.	O76024|.	WFS1_HUMAN|.	G|G	280|158	ENSP00000423337:E280G;ENSP00000226760:E280G|.	ENSP00000226760:E280G|.	E|R	+|+	2|1	0|2	WFS1|WFS1	6347795|6347795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	6.019000|6.019000	0.70818|0.70818	1.597000|1.597000	0.50072|0.50072	0.379000|0.379000	0.24179|0.24179	GAG|AGG		0.622	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			G	6296894	A	G	6296894	3	3	400	1	0	0	0	0	1	0	0	0	17360	304	11	4	861	4	WFS1	4	6296894	Missense_Mutation	SNP	A	TCGA-42-2587-01A-01D-1526-09		6296894	184857382	29	21912											
PPBP	5473	genome.wustl.edu	37	4	74853710	74853710	+	Silent	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:74853710G>C	ENST00000296028.3	-	1	204	c.111C>G	c.(109-111)acC>acG	p.T37T		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	37					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTTGTCCTTTGGTGGAGGAAG	0.522																																																0			4											136	125	129					4																	74853710		2203	4300	6503	75072574	SO:0001819	synonymous_variant	5473			M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"Endogenous ligands"	9240	protein-coding gene	gene with protein product	"platelet basic protein", "beta-thromboglobulin", "connective tissue-activating peptide III", "neutrophil-activating peptide-2"	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.111C>G	4.37:g.74853710G>C			75072574	B2R5F3|Q6IBJ8	Silent	SNP	ENST00000296028.3	37	CCDS3563.1																																																																																				0.522	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		C	74853710	G	C	74853710	2	2	400	1	0	0	0	0	0	0	0	1	12303	1335	47	3		3	PPBP	4	74853710	Silent	SNP	G	TCGA-42-2587-01A-01D-1526-09	68556816	74853710	116300566	30	21913											
HELQ	113510	genome.wustl.edu	37	4	84374423	84374423	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:84374423C>G	ENST00000295488.3	-	2	1135	c.973G>C	c.(973-975)Gac>Cac	p.D325H	MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000440639.2_5'Flank|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.D325H	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	325					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GCATAAAGGTCTCTCACTTTG	0.323								Other identified genes with known or suspected DNA repair function																																								0			4											63	67	66					4																	84374423		2203	4300	6503	84593447	SO:0001583	missense	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.973G>C	4.37:g.84374423C>G	ENSP00000295488:p.Asp325His		84593447	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800031	0.50208	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.60672	0.17;0.17	5.92	5.92	0.95590	.	0.105146	0.64402	D	0.000007	T	0.65729	0.2719	L	0.41824	1.3	0.28235	N	0.925932	P;B;D;B	0.71674	0.482;0.353;0.998;0.124	B;B;P;B	0.59487	0.11;0.152;0.858;0.033	T	0.61103	-0.7130	10	0.44086	T	0.13	-39.9316	17.2641	0.87081	0.0:0.8749:0.1251:0.0	.	325;325;288;325	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	H	325	ENSP00000295488:D325H;ENSP00000424539:D325H	ENSP00000295488:D325H	D	-	1	0	HELQ	84593447	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.478000	0.66806	2.804000	0.96469	0.655000	0.94253	GAC		0.323	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		G	84374423	C	G	84374423	3	3	400	1	0	0	0	0	1	0	0	0	7047	913	32	3	2400	3	HELQ	4	84374423	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	9520713	84374423	106779853	31	21914											
INTS12	57117	genome.wustl.edu	37	4	106614528	106614528	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:106614528T>A	ENST00000451321.2	-	4	904	c.425A>T	c.(424-426)gAc>gTc	p.D142V	INTS12_ENST00000340139.5_Missense_Mutation_p.D142V|INTS12_ENST00000394735.1_Missense_Mutation_p.D142V	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	142					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		ACTGGAAAGGTCAGCCATAGG	0.433																																																0			4											224	221	222					4																	106614528		2203	4300	6503	106833977	SO:0001583	missense	57117				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"Zinc fingers, PHD-type"	25067	protein-coding gene	gene with protein product	"hypothetical nuclear factor SBBI22"	611355	"PHD finger protein 22"	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.425A>T	4.37:g.106614528T>A	ENSP00000415433:p.Asp142Val		106833977	B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821514	0.90873	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321;ENST00000503746	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.93	5.93	0.95920	.	0.045090	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54323	1.7	0.80722	D	1	P	0.51240	0.943	P	0.49637	0.617	T	0.47560	-0.9108	10	0.45353	T	0.12	-5.6051	16.3871	0.83514	0.0:0.0:0.0:1.0	.	142	Q96CB8	INT12_HUMAN	V	142	ENSP00000378221:D142V;ENSP00000340737:D142V;ENSP00000415433:D142V;ENSP00000423618:D142V	ENSP00000340737:D142V	D	-	2	0	INTS12	106833977	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.484000	0.66844	2.270000	0.75569	0.482000	0.46254	GAC		0.433	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		A	106614528	T	A	106614528	3	1	400	1	0	0	0	0	1	0	0	0	7777	1667	58	5	979	5	INTS12	4	106614528	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	22240105	106614528	84539748	32	21915											
GRIA2	2891	genome.wustl.edu	37	4	158257019	158257019	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:158257019T>A	ENST00000264426.9	+	10	1742	c.1463T>A	c.(1462-1464)cTt>cAt	p.L488H	GRIA2_ENST00000296526.7_Missense_Mutation_p.L488H|GRIA2_ENST00000449365.1_Missense_Mutation_p.L441H|GRIA2_ENST00000507898.1_Missense_Mutation_p.L441H|GRIA2_ENST00000393815.2_Missense_Mutation_p.L441H	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	488					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTTGGAGAACTTGTATATGGG	0.403																																																0			4											154	140	145					4																	158257019		2203	4300	6503	158476469	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1463T>A	4.37:g.158257019T>A	ENSP00000264426:p.Leu488His		158476469	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038506	0.75617	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.86	5.86	0.93980	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	H	0.98005	4.125	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.995	D;D;P	0.71414	0.913;0.973;0.879	D	0.97081	0.9784	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	488;488;441	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	H	441;441;488;488;441	ENSP00000426845:L441H;ENSP00000377403:L441H;ENSP00000296526:L488H;ENSP00000264426:L488H;ENSP00000389837:L441H	ENSP00000264426:L488H	L	+	2	0	GRIA2	158476469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	CTT		0.403	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			A	158257019	T	A	158257019	3	1	400	1	0	0	0	0	1	0	0	0	6768	1609	56	5	1501	5	GRIA2	4	158257019	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	51642491	158257019	32897257	33	21916											
ANKRD32	84250	genome.wustl.edu	37	5	94030921	94030921	+	Silent	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:94030921A>G	ENST00000265140.5	+	21	3500	c.3081A>G	c.(3079-3081)gaA>gaG	p.E1027E	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	1027						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTCTTAAGGAACTGCCTGAGA	0.403																																																0			5											108	113	111					5																	94030921		2203	4297	6500	94056677	SO:0001819	synonymous_variant	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.3081A>G	5.37:g.94030921A>G			94056677	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	CCDS4071.2																																																																																				0.403	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		G	94030921	A	G	94030921	2	3	400	1	0	0	0	0	0	0	0	1	660	40	2	4		4	ANKRD32	5	94030921	Silent	SNP	A	TCGA-42-2587-01A-01D-1526-09		94030921	86884339	34	21917											
PPIP5K2	23262	genome.wustl.edu	37	5	102482230	102482230	+	Splice_Site	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:102482230G>A	ENST00000358359.3	+	6	996		c.e6-1		PPIP5K2_ENST00000513500.1_Splice_Site|PPIP5K2_ENST00000321521.9_Splice_Site|PPIP5K2_ENST00000414217.1_Splice_Site	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2						inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTGTTTTATAGAATGTAATCT	0.328																																																0			5											80	85	83					5																	102482230		2201	4299	6500	102510129	SO:0001630	splice_region_variant	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.488-1G>A	5.37:g.102482230G>A			102510129	A1NI53|A6NGS8|Q8TB50	Splice_Site	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	G	22.8	4.335030	0.81801	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9007	0.92442	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPIP5K2	102510129	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	9.420000	0.97426	2.549000	0.85964	0.650000	0.86243	.		0.328	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	Intron	A	102482230	G	A	102482230	5	1	400	1	0	0	0	0	0	0	1	0	12336	956	33	2	505	2	PPIP5K2	5	102482230	Splice_Site	SNP	G	TCGA-42-2587-01A-01D-1526-09	8451309	102482230	78433030	35	21918											
FBN2	2201	genome.wustl.edu	37	5	127697452	127697452	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:127697452C>T	ENST00000508053.1	-	25	3492	c.2518G>A	c.(2518-2520)Ggg>Agg	p.G840R	FBN2_ENST00000262464.4_Missense_Mutation_p.G840R|FBN2_ENST00000508989.1_Missense_Mutation_p.G807R			P35556	FBN2_HUMAN	fibrillin 2	840	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACACATACCCTGGTGGGCAC	0.443																																																0			5											187	159	169					5																	127697452		2203	4300	6503	127725351	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2518G>A	5.37:g.127697452C>T	ENSP00000424571:p.Gly840Arg		127725351	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203473	0.95033	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92595	-3.07;-3.07;-3.07	4.79	4.79	0.61399	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.97420	0.9156	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97996	1.0357	10	0.87932	D	0	.	19.1533	0.93499	0.0:1.0:0.0:0.0	.	807;840	D6RJI3;P35556	.;FBN2_HUMAN	R	840;840;807	ENSP00000262464:G840R;ENSP00000424571:G840R;ENSP00000425596:G807R	ENSP00000262464:G840R	G	-	1	0	FBN2	127725351	1.000000	0.71417	0.924000	0.36721	0.921000	0.55340	7.587000	0.82613	2.941000	0.99782	0.655000	0.94253	GGG		0.443	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127697452	C	T	127697452	3	4	400	1	0	0	0	0	1	0	0	0	5703	681	24	2	6408	2	FBN2	5	127697452	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	25215222	127697452	53217808	36	21919											
AFF4	27125	genome.wustl.edu	37	5	132234820	132234820	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:132234820G>A	ENST00000265343.5	-	9	1581	c.1202C>T	c.(1201-1203)aCa>aTa	p.T401I	AFF4_ENST00000378595.3_Missense_Mutation_p.T401I	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	401	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCGGCATTGTCTTATCACA	0.348																																					Ovarian(126;889 1733 2942 10745 11605)											0			5											58	60	59					5																	132234820		2203	4300	6503	132262719	SO:0001583	missense	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1202C>T	5.37:g.132234820G>A	ENSP00000265343:p.Thr401Ile		132262719	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.76|17.76	3.469688|3.469688	0.63625|0.63625	.|.	.|.	ENSG00000072364|ENSG00000072364	ENST00000425658|ENST00000265343;ENST00000378595	.|T;T	.|0.64438	.|-0.1;-0.1	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.045374	.|0.85682	.|D	.|0.000000	.|T	.|0.79221	.|0.4409	M|M	0.65498|0.65498	2.005|2.005	0.45046|0.45046	D|D	0.998068|0.998068	.|B;D	.|0.69078	.|0.4;0.997	.|B;D	.|0.79108	.|0.075;0.992	.|T	.|0.77869	.|-0.2427	.|10	.|0.52906	.|T	.|0.07	-12.6801|-12.6801	20.2956|20.2956	0.98549|0.98549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|401;401	.|Q9UHB7-2;Q9UHB7	.|.;AFF4_HUMAN	X|I	97|401	.|ENSP00000265343:T401I;ENSP00000367858:T401I	.|ENSP00000265343:T401I	Q|T	-|-	1|2	0|0	AFF4|AFF4	132262719|132262719	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.728000|4.728000	0.62000|0.62000	2.805000|2.805000	0.96524|0.96524	0.460000|0.460000	0.39030|0.39030	CAA|ACA		0.348	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		A	132234820	G	A	132234820	3	1	400	1	0	0	0	0	1	0	0	0	359	1377	48	2	2341	2	AFF4	5	132234820	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	4537368	132234820	48680440	37	21920											
PCDHB11	56125	genome.wustl.edu	37	5	140579941	140579941	+	Missense_Mutation	SNP	G	G	T	rs374892195		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:140579941G>T	ENST00000354757.3	+	1	594	c.594G>T	c.(592-594)aaG>aaT	p.K198N	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGGACAAGGCGCTGGATT	0.493																																																0			5											69	72	71					5																	140579941		2203	4300	6503	140560125	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.594G>T	5.37:g.140579941G>T	ENSP00000346802:p.Lys198Asn		140560125	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206728	0.39003	.	.	ENSG00000197479	ENST00000354757	T	0.57107	0.42	2.7	-3.01	0.05463	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68742	0.3034	M	0.87900	2.915	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.59495	-0.7444	9	0.72032	D	0.01	.	5.3935	0.16257	0.68:0.0:0.1582:0.1618	.	198	Q9Y5F2	PCDBB_HUMAN	N	198	ENSP00000346802:K198N	ENSP00000346802:K198N	K	+	3	2	PCDHB11	140560125	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-2.533000	0.00942	-0.735000	0.04837	0.467000	0.42956	AAG		0.493	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		T	140579941	G	T	140579941	3	4	400	1	0	0	0	0	1	0	0	0	11536	991	35	3	596	3	PCDHB11	5	140579941	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	8345121	140579941	40335319	38	21921											
FGFR4	2264	genome.wustl.edu	37	5	176517632	176517632	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:176517632G>A	ENST00000292408.4	+	3	578	c.333G>A	c.(331-333)caG>caA	p.Q111Q	FGFR4_ENST00000393648.2_Silent_p.Q111Q|FGFR4_ENST00000393637.1_Silent_p.Q111Q|FGFR4_ENST00000292410.3_Silent_p.Q111Q|FGFR4_ENST00000502906.1_Silent_p.Q111Q	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	111	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	TCGTCCTGCAGAATCTCACCT	0.587										TSP Lung(9;0.080)																																						0			5											57	55	56					5																	176517632		2203	4300	6503	176450238	SO:0001819	synonymous_variant	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.333G>A	5.37:g.176517632G>A			176450238	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	CCDS4410.1																																																																																				0.587	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			A	176517632	G	A	176517632	2	1	400	1	0	0	0	0	0	0	0	1	5868	933	33	2		2	FGFR4	5	176517632	Silent	SNP	G	TCGA-42-2587-01A-01D-1526-09	35937691	176517632	4397628	39	21922											
GCM2	9247	genome.wustl.edu	37	6	10875140	10875140	+	Silent	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:10875140A>G	ENST00000379491.4	-	5	756	c.609T>C	c.(607-609)ggT>ggC	p.G203G	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	203			G -> S (in dbSNP:rs7744163).		cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGCTGAAATGACCACTGCTGT	0.438																																																0			6											102	97	98					6																	10875140		2203	4300	6503	10983126	SO:0001819	synonymous_variant	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.609T>C	6.37:g.10875140A>G			10983126	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	CCDS4517.1																																																																																				0.438	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			G	10875140	A	G	10875140	2	3	400	1	0	0	0	0	0	0	0	1	6298	262	10	4		4	GCM2	6	10875140	Silent	SNP	A	TCGA-42-2587-01A-01D-1526-09		10875140	160239927	40	21923											
SYNGAP1	8831	genome.wustl.edu	37	6	33402968	33402968	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:33402968T>G	ENST00000418600.2	+	6	650	c.549T>G	c.(547-549)caT>caG	p.H183Q	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.H183Q|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.H124Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	183	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CACACTCTCATGAGTCCTTGC	0.532																																																0			6											116	105	109					6																	33402968		2203	4300	6503	33510946	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.549T>G	6.37:g.33402968T>G	ENSP00000403636:p.His183Gln		33510946	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505717	0.64410	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.21031	2.03;2.13;2.17	4.52	-3.17	0.05202	Pleckstrin homology domain (1);	0.156689	0.56097	D	0.000029	T	0.27278	0.0669	M	0.81341	2.54	0.58432	D	0.999996	P;P;D	0.60575	0.838;0.899;0.988	B;P;P	0.62649	0.276;0.466;0.905	T	0.30090	-0.9990	10	0.87932	D	0	.	11.0036	0.47620	0.0:0.5685:0.0:0.4315	.	183;183;183	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	Q	183;183;183;124	ENSP00000293748:H183Q;ENSP00000403636:H183Q;ENSP00000412475:H124Q	ENSP00000293748:H183Q	H	+	3	2	SYNGAP1	33510946	0.288000	0.24324	0.979000	0.43373	0.976000	0.68499	-0.380000	0.07427	-0.756000	0.04703	0.482000	0.46254	CAT		0.532	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		G	33402968	T	G	33402968	3	3	400	1	0	0	0	0	1	0	0	0	15447	1461	51	5	571	5	SYNGAP1	6	33402968	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	22527828	33402968	137712099	41	21924											
DNAH8	1769	genome.wustl.edu	37	6	38893978	38893978	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:38893978G>T	ENST00000359357.3	+	72	10713	c.10459G>T	c.(10459-10461)Gat>Tat	p.D3487Y	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3451Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3704Y|RP1-207H1.3_ENST00000418399.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3487	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGAAAATGATTTACAGGT	0.363																																																0			6											73	70	71					6																	38893978		2203	4300	6503	39001956	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10459G>T	6.37:g.38893978G>T	ENSP00000352312:p.Asp3487Tyr		39001956	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.153630	0.78114	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.27890	1.64;1.64;1.64	5.75	5.75	0.90469	.	0.219169	0.45867	D	0.000326	T	0.51193	0.1660	M	0.85859	2.78	0.53688	D	0.999972	P	0.44816	0.844	P	0.55345	0.774	T	0.52939	-0.8508	10	0.62326	D	0.03	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	3487	Q96JB1	DYH8_HUMAN	Y	3692;3692;3487;3451	ENSP00000333363:D3692Y;ENSP00000352312:D3487Y;ENSP00000402294:D3451Y	ENSP00000333363:D3692Y	D	+	1	0	DNAH8	39001956	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.181000	0.65054	2.878000	0.98634	0.650000	0.86243	GAT		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38893978	G	T	38893978	3	4	400	1	0	0	0	0	1	0	0	0	4607	1290	45	3	10737	3	DNAH8	6	38893978	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	5491010	38893978	132221089	42	21925											
KLHDC3	116138	genome.wustl.edu	37	6	42988453	42988453	+	Silent	SNP	C	C	T	rs143460878		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:42988453C>T	ENST00000326974.4	+	11	1326	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	KLHDC3_ENST00000244670.8_Silent_p.I243I|RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000332245.8_Silent_p.I318I	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	377					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTCGCCCCATCGTCTCCTCCC	0.577																																																0			6						C	,	1,4405	2.1+/-5.4	0,1,2202	152	126	135		1086,1131	-0.6	1	6	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KLHDC3	NM_001242872.1,NM_057161.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	362/368,377/383	42988453	1,13005	2203	4300	6503	43096431	SO:0001819	synonymous_variant	116138			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.1131C>T	6.37:g.42988453C>T			43096431	A8K2W9	Silent	SNP	ENST00000326974.4	37	CCDS4880.1																																																																																				0.577	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		T	42988453	C	T	42988453	2	4	400	1	0	0	0	0	0	0	0	1	8357	874	31	1		1	KLHDC3	6	42988453	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09	4094475	42988453	128126614	43	21926											
RARS2	57038	genome.wustl.edu	37	6	88251647	88251647	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:88251647G>T	ENST00000369536.5	-	8	646	c.601C>A	c.(601-603)Cat>Aat	p.H201N		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	201					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TCAAAGAGATGCTGTAGAGGA	0.348																																																0			6											76	76	76					6																	88251647		2203	4300	6503	88308366	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.601C>A	6.37:g.88251647G>T	ENSP00000358549:p.His201Asn		88308366	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444135	0.83993	.	.	ENSG00000146282	ENST00000369536	T	0.63255	-0.03	5.85	5.85	0.93711	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.63428	1.95	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.65869	-0.6063	10	0.32370	T	0.25	.	19.7539	0.96283	0.0:0.0:1.0:0.0	.	201	Q5T160	SYRM_HUMAN	N	201	ENSP00000358549:H201N	ENSP00000358549:H201N	H	-	1	0	RARS2	88308366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.499000	0.81566	2.770000	0.95276	0.563000	0.77884	CAT		0.348	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		T	88251647	G	T	88251647	3	4	400	1	0	0	0	0	1	0	0	0	13062	1319	46	3	1187	3	RARS2	6	88251647	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	45263194	88251647	82863420	44	21927											
GJA10	84694	genome.wustl.edu	37	6	90605258	90605258	+	Silent	SNP	A	A	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:90605258A>C	ENST00000369352.1	+	1	1071	c.1071A>C	c.(1069-1071)tcA>tcC	p.S357S	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACCATTCCTCATTTGGCCTGC	0.542																																																0			6											106	99	101					6																	90605258		2203	4300	6503	90661979	SO:0001819	synonymous_variant	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1071A>C	6.37:g.90605258A>C			90661979	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	37	CCDS5025.1																																																																																				0.542	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		C	90605258	A	C	90605258	2	2	400	1	0	0	0	0	0	0	0	1	6401	204	8	5		5	GJA10	6	90605258	Silent	SNP	A	TCGA-42-2587-01A-01D-1526-09	2353611	90605258	80509809	45	21928											
ESR1	2099	genome.wustl.edu	37	6	152265553	152265553	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:152265553C>A	ENST00000206249.3	+	4	1368	c.1006C>A	c.(1006-1008)Ccc>Acc	p.P336T	ESR1_ENST00000427531.2_Missense_Mutation_p.P163T|ESR1_ENST00000338799.5_Missense_Mutation_p.P336T|ESR1_ENST00000443427.1_Missense_Mutation_p.P336T|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.P336T|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	336	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TCCTACCAGACCCTTCAGTGA	0.552																																																0			6											111	102	105					6																	152265553		2203	4300	6503	152307246	SO:0001583	missense	2099			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1006C>A	6.37:g.152265553C>A	ENSP00000206249:p.Pro336Thr		152307246	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.67|16.67	3.187257|3.187257	0.57909|0.57909	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394	.|D;D;D;D;D	.|0.96522	.|-4.04;-4.04;-4.04;-4.04;-4.04	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98257|0.98257	0.9423|0.9423	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	.|B;D;P;P;B;B	.|0.71674	.|0.392;0.998;0.84;0.801;0.216;0.257	.|B;D;P;P;B;B	.|0.74348	.|0.302;0.983;0.713;0.573;0.201;0.302	D|D	0.98829|0.98829	1.0750|1.0750	5|10	.|0.87932	.|D	.|0	.|.	19.7375|19.7375	0.96212|0.96212	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|240;117;78;335;336;336	.|B0QYW6;E7EVR3;Q9Y2W8;A8KAF4;G4XH65;P03372	.|.;.;.;.;.;ESR1_HUMAN	E|T	240|336;336;117;336;336;264;163	.|ENSP00000405330:P336T;ENSP00000342630:P336T;ENSP00000387500:P336T;ENSP00000206249:P336T;ENSP00000445454:P163T	.|ENSP00000206249:P336T	D|P	+|+	3|1	2|0	ESR1|ESR1	152307246|152307246	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.306000|0.306000	0.27790|0.27790	7.818000|7.818000	0.86416|0.86416	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GAC|CCC		0.552	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			A	152265553	C	A	152265553	3	1	400	1	0	0	0	0	1	0	0	0	5256	507	18	3	1020	3	ESR1	6	152265553	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	61660295	152265553	18849514	46	21929											
GPER	2852	genome.wustl.edu	37	7	1132411	1132411	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:1132411C>T	ENST00000297469.3	+	2	1738	c.1047C>T	c.(1045-1047)aaC>aaT	p.N349N	GPER1_ENST00000397092.1_Silent_p.N349N|GPER1_ENST00000397088.3_Silent_p.N349N|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000401670.1_Silent_p.N349N|C7orf50_ENST00000397098.3_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	349					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CGGCCCTGAACCGCTTCTGTC	0.567																																																0			7											75	61	66					7																	1132411		2203	4300	6503	1098937	SO:0001819	synonymous_variant	2852			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.1047C>T	7.37:g.1132411C>T			1098937	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	ENST00000297469.3	37	CCDS5322.1																																																																																				0.567	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		T	1132411	C	T	1132411	2	4	400	1	0	0	0	0	0	0	0	1	6607	506	18	2		2	GPER	7	1132411	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09		1132411	158006252	47	21930											
MYL7	58498	genome.wustl.edu	37	7	44179950	44179950	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:44179950G>T	ENST00000223364.3	-	4	296	c.270C>A	c.(268-270)ttC>ttA	p.F90L	MYL7_ENST00000458240.1_Missense_Mutation_p.F63L|MYL7_ENST00000434895.1_5'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	90						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.F90L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						AGAGCGTGAGGAAGACGGTGA	0.637																																																1	Substitution - Missense(1)	kidney(1)	7											141	118	126					7																	44179950		2203	4300	6503	44146475	SO:0001583	missense	58498			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"Myosins / Light chain", "EF-hand domain containing"	21719	protein-coding gene	gene with protein product		613993	"myosin, light polypeptide 7, regulatory"			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.270C>A	7.37:g.44179950G>T	ENSP00000223364:p.Phe90Leu		44146475	B2R4L3	Missense_Mutation	SNP	ENST00000223364.3	37	CCDS5478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.94|19.94	3.919357|3.919357	0.73098|0.73098	.|.	.|.	ENSG00000106631|ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951|ENST00000431007	T;D;D;D;T|.	0.88896|.	1.67;-2.44;-2.44;-2.44;1.67|.	4.56|4.56	3.44|3.44	0.39384|0.39384	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80839|0.80839	0.4700|0.4700	M|M	0.92122|0.92122	3.275|3.275	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.56521|.	0.976|.	P|.	0.61132|.	0.884|.	D|D	0.85321|0.85321	0.1084|0.1084	10|5	0.62326|.	D|.	0.03|.	.|.	12.4189|12.4189	0.55510|0.55510	0.104:0.0:0.896:0.0|0.104:0.0:0.896:0.0	.|.	90|.	Q01449|.	MLRA_HUMAN|.	L|T	17;90;63;112;119|103	ENSP00000416010:F17L;ENSP00000223364:F90L;ENSP00000403360:F63L;ENSP00000389202:F112L;ENSP00000403988:F119L|.	ENSP00000223364:F90L|.	F|P	-|-	3|1	2|0	MYL7|MYL7	44146475|44146475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.756000|1.756000	0.38390|0.38390	2.084000|2.084000	0.62774|0.62774	0.549000|0.549000	0.68633|0.68633	TTC|CCT		0.637	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		T	44179950	G	T	44179950	3	4	400	1	0	0	0	0	1	0	0	0	10053	1165	41	3	273	3	MYL7	7	44179950	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	43047539	44179950	114958713	48	21931											
CD36	948	genome.wustl.edu	37	7	80300301	80300301	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:80300301A>G	ENST00000435819.1	+	13	1511	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	CD36_ENST00000432207.1_Missense_Mutation_p.Y276C|CD36_ENST00000538969.1_Missense_Mutation_p.Y216C|CD36_ENST00000394788.3_Missense_Mutation_p.Y276C|CD36_ENST00000544133.1_Intron|CD36_ENST00000447544.2_Missense_Mutation_p.Y276C|CD36_ENST00000309881.7_Missense_Mutation_p.Y276C|CD36_ENST00000433696.2_Missense_Mutation_p.Y237C|CD36_ENST00000534394.1_Missense_Mutation_p.Y200C			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	276					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AGGTCAATCTATGCTGTATTT	0.373																																																0			7											163	169	167					7																	80300301		2203	4300	6503	80138237	SO:0001583	missense	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.827A>G	7.37:g.80300301A>G	ENSP00000399421:p.Tyr276Cys		80138237	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552064	0.65311	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.85	4.71	0.59529	.	0.059601	0.64402	D	0.000001	D	0.85583	0.5730	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86984	0.2106	9	.	.	.	-12.5485	11.1854	0.48653	0.9282:0.0:0.0718:0.0	.	276	P16671	CD36_HUMAN	C	276;276;200;276;276;276;276;216;237	ENSP00000399421:Y276C;ENSP00000308165:Y276C;ENSP00000431296:Y200C;ENSP00000378268:Y276C;ENSP00000415743:Y276C;ENSP00000411411:Y276C;ENSP00000392298:Y276C;ENSP00000439543:Y216C;ENSP00000401863:Y237C	.	Y	+	2	0	CD36	80138237	1.000000	0.71417	0.974000	0.42286	0.968000	0.65278	5.023000	0.64084	1.064000	0.40671	0.477000	0.44152	TAT		0.373	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		G	80300301	A	G	80300301	3	3	400	1	0	0	0	0	1	0	0	0	3007	449	16	4	857	4	CD36	7	80300301	Missense_Mutation	SNP	A	TCGA-42-2587-01A-01D-1526-09	36120351	80300301	78838362	49	21932											
AKAP9	10142	genome.wustl.edu	37	7	91708846	91708846	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:91708846G>T	ENST00000359028.2	+	32	7660	c.7435G>T	c.(7435-7437)Gta>Tta	p.V2479L	AKAP9_ENST00000356239.3_Missense_Mutation_p.V2467L|AKAP9_ENST00000358100.2_Missense_Mutation_p.V2479L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2479	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAACTAGAAGTAGTCCTTAC	0.358			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0			7											84	86	85					7																	91708846		2203	4300	6503	91546782	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7435G>T	7.37:g.91708846G>T	ENSP00000351922:p.Val2479Leu		91546782	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	2.252	-0.371263	0.05034	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03413	4.02;4.02;4.01;3.94	3.85	-0.127	0.13510	.	1.020340	0.07907	N	0.973650	T	0.04048	0.0113	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.45891	-0.9230	10	0.27785	T	0.31	.	6.2412	0.20791	0.2411:0.1455:0.6134:0.0	.	2471;2479;2467;2459	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	L	2467;2479;2479;2471;313	ENSP00000348573:V2467L;ENSP00000351922:V2479L;ENSP00000350813:V2479L;ENSP00000378042:V313L	ENSP00000348573:V2467L	V	+	1	0	AKAP9	91546782	1.000000	0.71417	0.000000	0.03702	0.265000	0.26407	4.120000	0.57897	-0.031000	0.13781	0.460000	0.39030	GTA		0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91708846	G	T	91708846	3	4	400	1	0	0	0	0	1	0	0	0	459	1029	36	3	7521	3	AKAP9	7	91708846	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	11408545	91708846	67429817	50	21933											
TFR2	7036	genome.wustl.edu	37	7	100224455	100224455	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:100224455C>T	ENST00000462107.1	-	18	2354	c.2067G>A	c.(2065-2067)cgG>cgA	p.R689R	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.R689R|TFR2_ENST00000544242.1_Silent_p.R230R			Q9UP52	TFR2_HUMAN	transferrin receptor 2	689					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	AGATCTCCTGCCGCAGCTTTT	0.706																																																0			7											32	23	26					7																	100224455		2010	3900	5910	100062391	SO:0001819	synonymous_variant	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2067G>A	7.37:g.100224455C>T			100062391	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	ENST00000462107.1	37	CCDS34707.1																																																																																				0.706	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		T	100224455	C	T	100224455	2	4	400	1	0	0	0	0	0	0	0	1	15811	726	26	2		2	TFR2	7	100224455	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09	8515609	100224455	58914208	51	21934											
NAMPT	10135	genome.wustl.edu	37	7	105912982	105912982	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:105912982C>G	ENST00000222553.3	-	4	748	c.441G>C	c.(439-441)tgG>tgC	p.W147C	NAMPT_ENST00000354289.4_Missense_Mutation_p.W147C|NAMPT_ENST00000484527.1_5'UTR	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	147					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TTACCTCAATCCAATTTGTAA	0.318																																																0			7											49	48	49					7																	105912982		2202	4300	6502	105700218	SO:0001583	missense	10135			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"visfatin"	608764	"pre-B-cell colony enhancing factor 1"	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.441G>C	7.37:g.105912982C>G	ENSP00000222553:p.Trp147Cys		105700218	A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498915	0.85069	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	T;T	0.26067	1.76;1.76	5.2	5.2	0.72013	.	0.173725	0.56097	D	0.000040	T	0.53481	0.1799	M	0.82823	2.61	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.986	P;P;P	0.60949	0.881;0.802;0.741	T	0.60647	-0.7222	10	0.87932	D	0	-0.4563	19.1572	0.93516	0.0:1.0:0.0:0.0	.	60;128;147	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	C	147	ENSP00000222553:W147C;ENSP00000346242:W147C	ENSP00000222553:W147C	W	-	3	0	NAMPT	105700218	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.792000	0.62467	2.604000	0.88044	0.650000	0.86243	TGG		0.318	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		G	105912982	C	G	105912982	3	3	400	1	0	0	0	0	1	0	0	0	10149	856	30	3	1066	3	NAMPT	7	105912982	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	5688527	105912982	53225681	52	21935											
CHRM2	1129	genome.wustl.edu	37	7	136699622	136699622	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:136699622T>A	ENST00000445907.2	+	3	538	c.10T>A	c.(10-12)Tca>Aca	p.S4T	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S4T|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S4T|CHRM2_ENST00000453373.1_Missense_Mutation_p.S4T|CHRM2_ENST00000401861.1_Missense_Mutation_p.S4T|CHRM2_ENST00000320658.5_Missense_Mutation_p.S4T|hsa-mir-490_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	4					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AATGAATAACTCAACAAACTC	0.353																																																0			7											88	86	87					7																	136699622		2203	4300	6503	136350162	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.10T>A	7.37:g.136699622T>A	ENSP00000399745:p.Ser4Thr		136350162	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.245270	0.22796	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.33	5.33	0.75918	.	.	.	.	.	T	0.44435	0.1293	L	0.40543	1.245	0.42611	D	0.993312	B	0.32620	0.378	B	0.24006	0.05	T	0.40213	-0.9575	9	0.11182	T	0.66	.	15.3404	0.74290	0.0:0.0:0.0:1.0	.	4	P08172	ACM2_HUMAN	T	4	ENSP00000399745:S4T;ENSP00000415386:S4T;ENSP00000319984:S4T;ENSP00000380733:S4T;ENSP00000384937:S4T;ENSP00000384401:S4T	ENSP00000319984:S4T	S	+	1	0	CHRM2	136350162	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.586000	0.60984	2.024000	0.59613	0.477000	0.44152	TCA		0.353	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			A	136699622	T	A	136699622	3	1	400	1	0	0	0	0	1	0	0	0	3377	1551	54	5	12	5	CHRM2	7	136699622	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	30786640	136699622	22439041	53	21936											
DGKI	9162	genome.wustl.edu	37	7	137076016	137076016	+	Missense_Mutation	SNP	G	G	A	rs200049424		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:137076016G>A	ENST00000288490.5	-	34	3148	c.3148C>T	c.(3148-3150)Cgt>Tgt	p.R1050C	DGKI_ENST00000446122.1_Missense_Mutation_p.R1032C|DGKI_ENST00000424189.2_Missense_Mutation_p.R1063C|DGKI_ENST00000453654.2_Missense_Mutation_p.R719C|DGKI_ENST00000494390.1_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1050					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TAGTTCTGACGGCTTTCTAGG	0.478													G|||	1	0.000199681	0	0.0014	5008	,	,		17631	0		0	False		,,,				2504	0															0			7											129	117	121					7																	137076016		2203	4300	6503	136726556	SO:0001583	missense	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3148C>T	7.37:g.137076016G>A	ENSP00000288490:p.Arg1050Cys		136726556	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.21	3.331271	0.60853	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34472	1.36;1.36;1.36	5.92	3.17	0.36434	.	0.317776	0.35615	N	0.003086	T	0.44435	0.1293	L	0.38175	1.15	0.48975	D	0.999739	D;B	0.76494	0.999;0.134	D;B	0.64877	0.93;0.023	T	0.28038	-1.0056	10	0.62326	D	0.03	.	9.8382	0.40982	0.2613:0.0:0.7387:0.0	.	719;1050	E9PFX6;O75912	.;DGKI_HUMAN	C	719;967;1053;1050;1032	ENSP00000392161:R719C;ENSP00000288490:R1050C;ENSP00000399131:R1032C	ENSP00000288490:R1050C	R	-	1	0	DGKI	136726556	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	2.443000	0.44881	0.425000	0.26087	-0.127000	0.14921	CGT		0.478	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		A	137076016	G	A	137076016	3	1	400	1	0	0	0	0	1	0	0	0	4471	1116	39	1	53	1	DGKI	7	137076016	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	376394	137076016	22062647	54	21937											
PRSS37	136242	genome.wustl.edu	37	7	141536936	141536936	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:141536936C>T	ENST00000350549.3	-	4	914	c.543G>A	c.(541-543)gtG>gtA	p.V181V	PRSS37_ENST00000438520.1_Silent_p.V181V	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TGAATACTTTCACAAATTTCA	0.398																																																0			7											98	99	99					7																	141536936		2203	4300	6503	141183405	SO:0001819	synonymous_variant	136242				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"Serine peptidases / Serine peptidases"	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.543G>A	7.37:g.141536936C>T			141183405	B2RPB5	Silent	SNP	ENST00000350549.3	37	CCDS34764.1																																																																																				0.398	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		T	141536936	C	T	141536936	2	4	400	1	0	0	0	0	0	0	0	1	12629	813	29	2		2	PRSS37	7	141536936	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09	4460920	141536936	17601727	55	21938											
CLCN1	1180	genome.wustl.edu	37	7	143027916	143027916	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:143027916A>G	ENST00000343257.2	+	8	992	c.905A>G	c.(904-906)tAc>tGc	p.Y302C	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	302					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTTCGGAACTACTGGAGAGGA	0.552																																																0			7											164	130	142					7																	143027916		2203	4300	6503	142738038	SO:0001583	missense	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.905A>G	7.37:g.143027916A>G	ENSP00000339867:p.Tyr302Cys		142738038	A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157064	0.78114	.	.	ENSG00000188037	ENST00000343257	D	0.94280	-3.39	4.57	4.57	0.56435	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97374	0.9141	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98342	1.0539	10	0.87932	D	0	.	13.9361	0.64026	1.0:0.0:0.0:0.0	.	302	P35523	CLCN1_HUMAN	C	302	ENSP00000339867:Y302C	ENSP00000339867:Y302C	Y	+	2	0	CLCN1	142738038	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.304000	0.96190	1.696000	0.51158	0.372000	0.22366	TAC		0.552	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		G	143027916	A	G	143027916	3	3	400	1	0	0	0	0	1	0	0	0	3462	391	14	4	935	4	CLCN1	7	143027916	Missense_Mutation	SNP	A	TCGA-42-2587-01A-01D-1526-09	1490980	143027916	16110747	56	21939											
C9orf131	138724	genome.wustl.edu	37	9	35043225	35043225	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:35043225C>G	ENST00000312292.5	+	2	646	c.599C>G	c.(598-600)cCc>cGc	p.P200R	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.P127R|C9orf131_ENST00000421362.2_Missense_Mutation_p.P152R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	200										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGGGGTCTCCCCTCTCTGCAC	0.537																																																0			9											106	101	103					9																	35043225		2203	4300	6503	35033225	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.599C>G	9.37:g.35043225C>G	ENSP00000308279:p.Pro200Arg		35033225	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140830	0.77775	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.64618	0.81;0.75;0.87;-0.11	5.31	5.31	0.75309	.	0.000000	0.49305	D	0.000157	T	0.81716	0.4881	M	0.88310	2.945	0.39497	D	0.968135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85257	0.1048	10	0.72032	D	0.01	-16.6619	14.3517	0.66708	0.0:1.0:0.0:0.0	.	200;127;152	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	R	152;127;200;165	ENSP00000393683:P152R;ENSP00000346472:P127R;ENSP00000308279:P200R;ENSP00000368019:P165R	ENSP00000308279:P200R	P	+	2	0	C9orf131	35033225	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	3.266000	0.51569	2.769000	0.95229	0.655000	0.94253	CCC		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		G	35043225	C	G	35043225	3	3	400	1	0	0	0	0	1	0	0	0	2457	623	22	3	621	3	C9orf131	9	35043225	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09		35043225	106170206	57	21940											
KIF27	55582	genome.wustl.edu	37	9	86502015	86502015	+	Missense_Mutation	SNP	C	C	G	rs543373060		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:86502015C>G	ENST00000297814.2	-	9	2323	c.2180G>C	c.(2179-2181)aGa>aCa	p.R727T	KIF27_ENST00000413982.1_Missense_Mutation_p.R727T|KIF27_ENST00000334204.2_Missense_Mutation_p.R727T|KIF27_ENST00000376347.1_Missense_Mutation_p.R118T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	727					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTAAGTTCTCTCATTTTTTG	0.289																																																0			9											112	104	107					9																	86502015		2202	4298	6500	85691835	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2180G>C	9.37:g.86502015C>G	ENSP00000297814:p.Arg727Thr		85691835	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615055	0.66672	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.27	2.38	0.29361	.	0.189508	0.35615	N	0.003088	T	0.62889	0.2465	M	0.79258	2.445	0.33692	D	0.613461	B;D;P	0.52996	0.386;0.957;0.851	B;P;B	0.54590	0.178;0.756;0.253	T	0.74297	-0.3711	10	0.62326	D	0.03	.	9.6498	0.39890	0.0:0.8272:0.0:0.1728	.	727;727;727	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	727;727;727;118	ENSP00000297814:R727T;ENSP00000401688:R727T;ENSP00000333928:R727T;ENSP00000365525:R118T	ENSP00000297814:R727T	R	-	2	0	KIF27	85691835	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.524000	0.53495	0.913000	0.36797	0.305000	0.20034	AGA		0.289	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		G	86502015	C	G	86502015	3	3	400	1	0	0	0	0	1	0	0	0	8296	913	32	3	2065	3	KIF27	9	86502015	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	51458790	86502015	54711416	58	21941											
WNK2	65268	genome.wustl.edu	37	9	96054853	96054853	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:96054853G>T	ENST00000297954.4	+	23	5217	c.5217G>T	c.(5215-5217)gaG>gaT	p.E1739D	WNK2_ENST00000395477.2_Missense_Mutation_p.E1702D|WNK2_ENST00000427277.2_Missense_Mutation_p.E1314D|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.E1351D|WNK2_ENST00000356055.3_Missense_Mutation_p.E66D	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1739					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCTCGGCAGAGCCCCCGCCGA	0.627																																																0			9											28	26	26					9																	96054853		2199	4297	6496	95094674	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5217G>T	9.37:g.96054853G>T	ENSP00000297954:p.Glu1739Asp		95094674	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.77|11.77|11.77	1.738946|1.738946|1.738946	0.30774|0.30774|0.30774	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055|ENST00000432730;ENST00000448251;ENST00000453718	.|T;T;T;T;D|.	.|0.83506|.	.|-0.4;-0.39;0.2;0.2;-1.73|.	4.55|4.55|4.55	0.501|0.501|0.501	0.16925|0.16925|0.16925	.|.|.	.|0.914177|.	.|0.09556|.	.|N|.	.|0.786209|.	T|T|T	0.31295|0.31295|0.31295	0.0792|0.0792|0.0792	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;D;B;D;P|.	.|0.61697|.	.|0.335;0.965;0.244;0.99;0.92|.	.|B;P;B;P;B|.	.|0.55999|.	.|0.135;0.549;0.073;0.789;0.422|.	T|T|T	0.27773|0.27773|0.27773	-1.0064|-1.0064|-1.0064	5|10|5	.|0.12766|.	.|T|.	.|0.61|.	.|.|.	8.4319|8.4319|8.4319	0.32764|0.32764|0.32764	0.4452:0.0:0.5548:0.0|0.4452:0.0:0.5548:0.0|0.4452:0.0:0.5548:0.0	.|.|.	.|1702;1697;1305;1702;1739|.	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.	.|.;.;.;.;WNK2_HUMAN|.	S|D|I	1306|1739;1702;1351;1314;66|1698;499;224	.|ENSP00000297954:E1739D;ENSP00000378860:E1702D;ENSP00000297876:E1351D;ENSP00000411181:E1314D;ENSP00000348347:E66D|.	.|ENSP00000297954:E1739D|.	A|E|S	+|+|+	1|3|2	0|2|0	WNK2|WNK2|WNK2	95094674|95094674|95094674	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.013000|0.013000|0.013000	0.08279|0.08279|0.08279	0.374000|0.374000|0.374000	0.20501|0.20501|0.20501	0.162000|0.162000|0.162000	0.19483|0.19483|0.19483	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCC|GAG|AGC		0.627	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	96054853	G	T	96054853	3	4	400	1	0	0	0	0	1	0	0	0	17378	962	34	3	5192	3	WNK2	9	96054853	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	9552838	96054853	45158578	59	21942											
TMEM38B	55151	genome.wustl.edu	37	9	108483838	108483838	+	Missense_Mutation	SNP	C	C	G	rs547699490		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:108483838C>G	ENST00000374692.3	+	3	407	c.290C>G	c.(289-291)cCg>cGg	p.P97R	TMEM38B_ENST00000374688.1_Missense_Mutation_p.P43R	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	97						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTTTTTGCCCGCATGACCTA	0.358																																																0			9											75	69	71					9																	108483838		2202	4300	6502	107523659	SO:0001583	missense	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.290C>G	9.37:g.108483838C>G	ENSP00000363824:p.Pro97Arg		107523659	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	CCDS6768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.964057|2.964057	0.53507|0.53507	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000374692;ENST00000374688|ENST00000435034	T;D|.	0.85171|.	-0.49;-1.95|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82296|0.82296	0.5006|0.5006	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.82768|0.82768	-0.0294|-0.0294	10|5	0.87932|.	D|.	0|.	-14.4034|-14.4034	18.9027|18.9027	0.92449|0.92449	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	97|.	Q9NVV0|.	TM38B_HUMAN|.	R|G	97;43|34	ENSP00000363824:P97R;ENSP00000363820:P43R|.	ENSP00000363820:P43R|.	P|R	+|+	2|1	0|0	TMEM38B|TMEM38B	107523659|107523659	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.123000|0.123000	0.20343|0.20343	7.029000|7.029000	0.76477|0.76477	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.358	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		G	108483838	C	G	108483838	3	3	400	1	0	0	0	0	1	0	0	0	16160	652	23	3	300	3	TMEM38B	9	108483838	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	12428985	108483838	32729593	60	21943											
DFNB31	25861	genome.wustl.edu	37	9	117165559	117165559	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:117165559C>A	ENST00000362057.3	-	11	2647	c.2479G>T	c.(2479-2481)Ggc>Tgc	p.G827C	DFNB31_ENST00000374059.3_Missense_Mutation_p.G476C|DFNB31_ENST00000265134.6_Missense_Mutation_p.G444C	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	827	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGGCGATGCCCAGGGTGGCC	0.612																																																0			9											53	58	56					9																	117165559		2203	4300	6503	116205380	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2479G>T	9.37:g.117165559C>A	ENSP00000354623:p.Gly827Cys		116205380	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166133	0.78339	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	D;D;D	0.81659	-1.52;-1.52;-1.52	4.96	4.96	0.65561	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	H	0.97365	3.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96063	0.9040	10	0.87932	D	0	-28.0327	18.2113	0.89871	0.0:1.0:0.0:0.0	.	826;827;476	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	C	444;476;827	ENSP00000265134:G444C;ENSP00000363172:G476C;ENSP00000354623:G827C	ENSP00000265134:G444C	G	-	1	0	DFNB31	116205380	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.212000	0.77941	2.287000	0.76781	0.655000	0.94253	GGC		0.612	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		A	117165559	C	A	117165559	3	1	400	1	0	0	0	0	1	0	0	0	4455	623	22	3	252	3	DFNB31	9	117165559	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	8681721	117165559	24047872	61	21944											
RALGDS	5900	genome.wustl.edu	37	9	135982607	135982607	+	Silent	SNP	C	C	T	rs376963822		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:135982607C>T	ENST00000372050.3	-	7	1299	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L	RALGDS_ENST00000542690.1_Silent_p.L497L|RALGDS_ENST00000372062.3_Silent_p.L397L|RALGDS_ENST00000372047.3_Silent_p.L414L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Silent_p.L425L|RALGDS_ENST00000393160.3_Silent_p.L371L	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	426	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGGTGGGCGCCAGGTGCTCCT	0.612			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0			9						C	,	1,4405	2.1+/-5.4	0,1,2202	94	83	87		1113,1278	3.5	1	9		87	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RALGDS	NM_001042368.1,NM_006266.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	371/860,426/915	135982607	1,13005	2203	4300	6503	134972428	SO:0001819	synonymous_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1278G>A	9.37:g.135982607C>T			134972428	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	37	CCDS6959.1																																																																																				0.612	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		T	135982607	C	T	135982607	2	4	400	1	0	0	0	0	0	0	0	1	13019	581	21	2		2	RALGDS	9	135982607	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09	18817048	135982607	5230824	62	21945											
FCN2	2220	genome.wustl.edu	37	9	137774380	137774380	+	Missense_Mutation	SNP	A	A	G	rs146943969		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:137774380A>G	ENST00000291744.6	+	2	119	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	FCN2_ENST00000350339.2_Intron	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	37					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGAGGTGAAGATGGTGGGCCT	0.592																																																0			9											78	79	79					9																	137774380		2203	4300	6503	136914201	SO:0001583	missense	2220			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.109A>G	9.37:g.137774380A>G	ENSP00000291744:p.Met37Val		136914201	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.141838	0.00029	.	.	ENSG00000160339	ENST00000291744	T	0.44083	0.93	3.39	-4.96	0.03038	.	1.274830	0.06091	N	0.663692	T	0.11196	0.0273	N	0.01219	-0.95	0.32125	N	0.587496	B	0.02656	0.0	B	0.01281	0.0	T	0.41998	-0.9477	10	0.02654	T	1	.	5.2952	0.15749	0.4:0.2625:0.3376:0.0	.	37	Q15485	FCN2_HUMAN	V	37	ENSP00000291744:M37V	ENSP00000291744:M37V	M	+	1	0	FCN2	136914201	0.764000	0.28473	0.029000	0.17559	0.142000	0.21351	-0.295000	0.08298	-0.951000	0.03654	-1.558000	0.00888	ATG		0.592	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		G	137774380	A	G	137774380	3	3	400	1	0	0	0	0	1	0	0	0	5792	333	12	4	115	4	FCN2	9	137774380	Missense_Mutation	SNP	A	TCGA-42-2587-01A-01D-1526-09	1791773	137774380	3439051	63	21946											
KCNT1	57582	genome.wustl.edu	37	9	138642002	138642002	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:138642002T>C	ENST00000263604.3	+	3	256	c.256T>C	c.(256-258)Ttc>Ctc	p.F86L	KCNT1_ENST00000491806.2_Missense_Mutation_p.F72L|KCNT1_ENST00000487664.1_Missense_Mutation_p.F57L|KCNT1_ENST00000298480.5_Missense_Mutation_p.F105L|KCNT1_ENST00000490355.2_Missense_Mutation_p.F86L|KCNT1_ENST00000488444.2_Missense_Mutation_p.F86L|KCNT1_ENST00000371757.2_Missense_Mutation_p.F105L|KCNT1_ENST00000486577.2_Missense_Mutation_p.F66L			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	86					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAAGCTGTTCTTCATCAAAAA	0.607																																																0			9											78	65	69					9																	138642002		2203	4300	6503	137781823	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.256T>C	9.37:g.138642002T>C	ENSP00000263604:p.Phe86Leu		137781823	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	.	20.5	4.000150	0.74818	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.59906	1.22;0.99;0.98;0.23;1.13	4.18	4.18	0.49190	.	0.062995	0.64402	U	0.000004	T	0.60379	0.2264	M	0.75085	2.285	0.80722	D	1	B;B	0.27286	0.064;0.174	B;B	0.33254	0.048;0.16	T	0.64445	-0.6406	10	0.59425	D	0.04	-31.5342	12.7101	0.57083	0.0:0.0:0.0:1.0	.	105;57	B9EGP2;G5E9V0	.;.	L	57;105;105;52;66;72;86;86;86	ENSP00000417851:F57L;ENSP00000298480:F105L;ENSP00000360822:F105L;ENSP00000420764:F52L;ENSP00000263604:F86L	ENSP00000263604:F86L	F	+	1	0	KCNT1	137781823	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.713000	0.84693	1.670000	0.50864	0.459000	0.35465	TTC		0.607	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		C	138642002	T	C	138642002	3	2	400	1	0	0	0	0	1	0	0	0	8091	1609	56	4	323	4	KCNT1	9	138642002	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	867622	138642002	2571429	64	21947											
ASB13	79754	genome.wustl.edu	37	10	5682766	5682766	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:5682766C>T	ENST00000357700.6	-	6	763	c.737G>A	c.(736-738)tGc>tAc	p.C246Y	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	246	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GTTCACCCTGCAGAGCTGTGA	0.507																																																0			10											98	93	94					10																	5682766		2203	4300	6503	5722772	SO:0001583	missense	79754			AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"Ankyrin repeat domain containing"	19765	protein-coding gene	gene with protein product		615055	"ankyrin repeat and SOCS box-containing 13"			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.737G>A	10.37:g.5682766C>T	ENSP00000350331:p.Cys246Tyr		5722772	A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384618	0.82792	.	.	ENSG00000196372	ENST00000357700	T	0.78924	-1.22	5.28	5.28	0.74379	SOCS protein, C-terminal (3);	0.044322	0.85682	D	0.000000	D	0.91246	0.7241	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.93404	0.6763	10	0.87932	D	0	-22.6703	18.5437	0.91039	0.0:1.0:0.0:0.0	.	246	Q8WXK3	ASB13_HUMAN	Y	246	ENSP00000350331:C246Y	ENSP00000350331:C246Y	C	-	2	0	ASB13	5722772	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.566000	0.73978	2.479000	0.83701	0.655000	0.94253	TGC		0.507	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			T	5682766	C	T	5682766	3	4	400	1	0	0	0	0	1	0	0	0	1017	710	25	2	103	2	ASB13	10	5682766	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09		5682766	129851981	65	21948											
ITIH5	80760	genome.wustl.edu	37	10	7682777	7682777	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:7682777C>G	ENST00000256861.6	-	4	419	c.341G>C	c.(340-342)aGa>aCa	p.R114T	ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.R114T|ITIH5_ENST00000397146.2_Missense_Mutation_p.R114T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	114	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTTCTTTTCTCTCTCTGTAAT	0.373																																																0			10											251	244	246					10																	7682777		2203	4300	6503	7722783	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.341G>C	10.37:g.7682777C>G	ENSP00000256861:p.Arg114Thr		7722783	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	C	16.11	3.031161	0.54790	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.25414	1.8;1.8;1.8	5.71	-3.19	0.05171	Vault protein inter-alpha-trypsin (2);	0.699468	0.14961	N	0.288344	T	0.32496	0.0831	.	.	.	0.23473	N	0.997603	P;P	0.50369	0.934;0.858	P;P	0.49637	0.617;0.614	T	0.38200	-0.9672	9	0.87932	D	0	-6.8563	14.803	0.69929	0.0:0.1219:0.0:0.8781	.	114;114	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	114	ENSP00000256861:R114T;ENSP00000380333:R114T;ENSP00000380332:R114T	ENSP00000256861:R114T	R	-	2	0	ITIH5	7722783	0.999000	0.42202	0.139000	0.22197	0.610000	0.37248	0.374000	0.20501	-0.870000	0.04047	0.563000	0.77884	AGA		0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		G	7682777	C	G	7682777	3	3	400	1	0	0	0	0	1	0	0	0	7907	913	32	3	2668	3	ITIH5	10	7682777	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	2000011	7682777	127851970	66	21949											
APBB1IP	54518	genome.wustl.edu	37	10	26781274	26781274	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:26781274G>A	ENST00000376236.4	+	3	474	c.19G>A	c.(19-21)Gac>Aac	p.D7N	APBB1IP_ENST00000356785.4_Missense_Mutation_p.D7N	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	7					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GTCAAGTGAAGACATAGACCA	0.408																																																0			10											149	139	142					10																	26781274		2203	4300	6503	26821280	SO:0001583	missense	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.19G>A	10.37:g.26781274G>A	ENSP00000365411:p.Asp7Asn		26821280	Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923784	0.92319	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.69685	-0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.65975	2.015	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;0.996;1.0	T	0.82343	-0.0504	10	0.87932	D	0	.	17.9328	0.89004	0.0:0.0:1.0:0.0	.	7;7;7	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	N	7	ENSP00000365411:D7N	ENSP00000349237:D7N	D	+	1	0	APBB1IP	26821280	1.000000	0.71417	0.971000	0.41717	0.989000	0.77384	7.009000	0.76347	2.745000	0.94114	0.491000	0.48974	GAC		0.408	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		A	26781274	G	A	26781274	3	1	400	1	0	0	0	0	1	0	0	0	760	942	33	2	21	2	APBB1IP	10	26781274	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	19098497	26781274	108753473	67	21950											
SVIL	6840	genome.wustl.edu	37	10	29776123	29776123	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:29776123C>T	ENST00000355867.4	-	24	5206	c.4454G>A	c.(4453-4455)gGa>gAa	p.G1485E	SVIL_ENST00000375400.3_Missense_Mutation_p.G1059E|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.G277E|SVIL_ENST00000535393.1_Missense_Mutation_p.G399E|SVIL_ENST00000375398.2_Missense_Mutation_p.G1485E	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1485	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCAAACTCTCCTACCCACAG	0.517																																																0			10											68	63	65					10																	29776123		2203	4300	6503	29816129	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4454G>A	10.37:g.29776123C>T	ENSP00000348128:p.Gly1485Glu		29816129	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911773	0.92178	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	4.45	4.45	0.53987	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	H	0.97540	4.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.97238	0.9889	10	0.87932	D	0	-26.2238	17.366	0.87364	0.0:1.0:0.0:0.0	.	399;277;1059;1485	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	E	1059;1485;1485;399;439;277	ENSP00000364549:G1059E;ENSP00000364547:G1485E;ENSP00000348128:G1485E;ENSP00000445472:G399E;ENSP00000440343:G277E	ENSP00000348128:G1485E	G	-	2	0	SVIL	29816129	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.541000	0.82084	2.315000	0.78130	0.485000	0.47835	GGA		0.517	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			T	29776123	C	T	29776123	3	4	400	1	0	0	0	0	1	0	0	0	15421	855	30	2	2250	2	SVIL	10	29776123	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	2994849	29776123	105758624	68	21951											
CXCL12	6387	genome.wustl.edu	37	10	44876221	44876221	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:44876221G>T	ENST00000374429.2	-	2	255	c.169C>A	c.(169-171)Ctt>Att	p.L57I	AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000343575.6_Missense_Mutation_p.L57I|CXCL12_ENST00000374426.2_Missense_Mutation_p.L57I|CXCL12_ENST00000395795.4_Missense_Mutation_p.L57I|CXCL12_ENST00000395794.2_Missense_Mutation_p.L57I	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	57					adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	ACAATCTGAAGGGCACAGTTT	0.428																																																0			10											243	225	231					10																	44876221		2203	4300	6503	44196227	SO:0001583	missense	6387			L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"Endogenous ligands"	10672	protein-coding gene	gene with protein product		600835	"stromal cell-derived factor 1"	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.169C>A	10.37:g.44876221G>T	ENSP00000363551:p.Leu57Ile		44196227	B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Missense_Mutation	SNP	ENST00000374429.2	37	CCDS44373.1	.	.	.	.	.	.	.	.	.	.	g	13.37	2.218018	0.39201	.	.	ENSG00000107562	ENST00000395795;ENST00000374429;ENST00000374426;ENST00000343575;ENST00000395794	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	5.47	4.57	0.56435	Chemokine interleukin-8-like domain (3);	0.123456	0.64402	D	0.000011	T	0.06962	0.0177	.	.	.	0.30265	N	0.792826	P;P	0.41420	0.562;0.749	B;B	0.42555	0.201;0.391	T	0.03240	-1.1057	9	0.46703	T	0.11	-43.821	12.0974	0.53763	0.0838:0.0:0.9162:0.0	.	57;57	P48061-3;P48061	.;SDF1_HUMAN	I	57	ENSP00000379141:L57I;ENSP00000363551:L57I;ENSP00000363548:L57I;ENSP00000339913:L57I;ENSP00000379140:L57I	ENSP00000339913:L57I	L	-	1	0	CXCL12	44196227	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	5.400000	0.66320	1.325000	0.45301	-0.150000	0.13652	CTT		0.428	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		T	44876221	G	T	44876221	3	4	400	1	0	0	0	0	1	0	0	0	4080	1000	35	3	387	3	CXCL12	10	44876221	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	15100098	44876221	90658526	69	21952											
ANKRD1	27063	genome.wustl.edu	37	10	92675935	92675935	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:92675935C>T	ENST00000371697.3	-	6	892	c.644G>A	c.(643-645)cGa>cAa	p.R215Q		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	215					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TACCTTATCTCGGGCGCTAAT	0.527																																																0			10											82	79	80					10																	92675935		2203	4300	6503	92665915	SO:0001583	missense	27063			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"Ankyrin repeat domain containing"	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.644G>A	10.37:g.92675935C>T	ENSP00000360762:p.Arg215Gln		92665915	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178885	0.94846	.	.	ENSG00000148677	ENST00000371697	T	0.67345	-0.26	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.089153	0.46442	D	0.000299	T	0.58680	0.2139	N	0.12637	0.245	0.58432	D	0.999999	P	0.35468	0.503	B	0.42343	0.384	T	0.63883	-0.6536	10	0.56958	D	0.05	.	19.0606	0.93091	0.0:1.0:0.0:0.0	.	215	Q15327	ANKR1_HUMAN	Q	215	ENSP00000360762:R215Q	ENSP00000360762:R215Q	R	-	2	0	ANKRD1	92665915	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.977000	0.76141	2.511000	0.84671	0.484000	0.47621	CGA		0.527	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		T	92675935	C	T	92675935	3	4	400	1	0	0	0	0	1	0	0	0	637	884	31	1	331	1	ANKRD1	10	92675935	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	47799714	92675935	42858812	70	21953											
SEC23IP	11196	genome.wustl.edu	37	10	121658043	121658043	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:121658043A>C	ENST00000369075.3	+	2	340	c.268A>C	c.(268-270)Agt>Cgt	p.S90R	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	90	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATCAAGCAGCAGTGATCCTTT	0.473																																																0			10											189	171	177					10																	121658043		2203	4300	6503	121648033	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.268A>C	10.37:g.121658043A>C	ENSP00000358071:p.Ser90Arg		121648033	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724027	0.48728	.	.	ENSG00000107651	ENST00000369075	D	0.97041	-4.22	5.27	4.14	0.48551	.	0.335640	0.39341	N	0.001395	D	0.95156	0.8430	M	0.64997	1.995	0.80722	D	1	B	0.25351	0.124	B	0.26310	0.068	D	0.92403	0.5931	10	0.59425	D	0.04	-2.0434	9.4792	0.38891	0.9105:0.0:0.0895:0.0	.	90	Q9Y6Y8	S23IP_HUMAN	R	90	ENSP00000358071:S90R	ENSP00000358071:S90R	S	+	1	0	SEC23IP	121648033	1.000000	0.71417	0.879000	0.34478	0.983000	0.72400	2.378000	0.44309	0.872000	0.35775	0.533000	0.62120	AGT		0.473	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			C	121658043	A	C	121658043	3	2	400	1	0	0	0	0	1	0	0	0	13996	188	7	5	274	5	SEC23IP	10	121658043	Missense_Mutation	SNP	A	TCGA-42-2587-01A-01D-1526-09	28982108	121658043	13876704	71	21954											
TP53I11	9537	genome.wustl.edu	37	11	44956512	44956512	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:44956512G>A	ENST00000533940.1	-	10	1097	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	TP53I11_ENST00000308212.5_Silent_p.L165L|TP53I11_ENST00000525680.1_Silent_p.L165L|TP53I11_ENST00000531130.2_5'Flank|TP53I11_ENST00000395648.3_Silent_p.L165L	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	165	Poly-Leu.				negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CGGCTGACCAGGAGCAGCAGG	0.607																																																0			11											121	114	116					11																	44956512		2203	4299	6502	44913088	SO:0001819	synonymous_variant	9537			AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.493C>T	11.37:g.44956512G>A			44913088	Q3ZCS0	Silent	SNP	ENST00000533940.1	37	CCDS7911.1																																																																																				0.607	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389909.1	NM_006034		A	44956512	G	A	44956512	2	1	400	1	0	0	0	0	0	0	0	1	16385	991	35	2		2	TP53I11	11	44956512	Silent	SNP	G	TCGA-42-2587-01A-01D-1526-09		44956512	90050004	72	21955											
PLCB3	5331	genome.wustl.edu	37	11	64034924	64034924	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:64034924G>T	ENST00000540288.1	+	31	3704	c.3601G>T	c.(3601-3603)Gac>Tac	p.D1201Y	PLCB3_ENST00000325234.5_Missense_Mutation_p.D1134Y|PLCB3_ENST00000279230.6_Missense_Mutation_p.D1201Y	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1201					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGGGCTGGGGGACGGGCCTCT	0.726																																																0			11											5	6	6					11																	64034924		2107	4112	6219	63791500	SO:0001583	missense	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3601G>T	11.37:g.64034924G>T	ENSP00000443631:p.Asp1201Tyr		63791500	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963459	0.53507	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.23147	2.05;2.05;1.92	4.21	4.21	0.49690	.	0.734974	0.13046	N	0.418144	T	0.37348	0.1000	L	0.36672	1.1	0.34792	D	0.735806	P;D	0.62365	0.815;0.991	B;D	0.63381	0.246;0.914	T	0.45131	-0.9282	10	0.66056	D	0.02	.	11.1537	0.48476	0.0:0.0:0.8155:0.1845	.	1134;1201	G5E960;Q01970	.;PLCB3_HUMAN	Y	1201;1201;1134	ENSP00000279230:D1201Y;ENSP00000443631:D1201Y;ENSP00000324660:D1134Y	ENSP00000279230:D1201Y	D	+	1	0	PLCB3	63791500	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.345000	0.44018	2.354000	0.79902	0.561000	0.74099	GAC		0.726	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			T	64034924	G	T	64034924	3	4	400	1	0	0	0	0	1	0	0	0	12029	1174	41	3	3723	3	PLCB3	11	64034924	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	19078412	64034924	70971592	73	21956											
KLC2	64837	genome.wustl.edu	37	11	66033414	66033414	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:66033414G>A	ENST00000417856.1	+	13	1776	c.1533G>A	c.(1531-1533)atG>atA	p.M511I	KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394066.2_Missense_Mutation_p.M434I|RP11-867G23.2_ENST00000533287.1_RNA|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000316924.5_Missense_Mutation_p.M511I|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394065.2_Missense_Mutation_p.M372I|KLC2_ENST00000421552.1_Missense_Mutation_p.M434I|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394067.2_Missense_Mutation_p.M511I	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	511					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCCGAGACATGGCTGGGGGTG	0.677																																																0			11											31	38	35					11																	66033414		2193	4284	6477	65789990	SO:0001583	missense	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1533G>A	11.37:g.66033414G>A	ENSP00000399403:p.Met511Ile		65789990	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	2.378	-0.342841	0.05243	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.82433	-0.98;-0.98;-0.98;-0.98;-0.98;-1.61	3.71	-0.711	0.11230	.	0.442134	0.18896	N	0.128166	T	0.59128	0.2171	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47169	-0.9138	10	0.40728	T	0.16	-0.7477	2.9957	0.05997	0.0998:0.1447:0.462:0.2935	.	372;434;511	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	I	511;511;511;434;434;372	ENSP00000399403:M511I;ENSP00000377631:M511I;ENSP00000314837:M511I;ENSP00000408484:M434I;ENSP00000377630:M434I;ENSP00000377629:M372I	ENSP00000314837:M511I	M	+	3	0	KLC2	65789990	0.000000	0.05858	0.001000	0.08648	0.416000	0.31233	-0.131000	0.10482	0.248000	0.21435	0.491000	0.48974	ATG		0.677	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		A	66033414	G	A	66033414	3	1	400	1	0	0	0	0	1	0	0	0	8334	1348	47	2	1579	2	KLC2	11	66033414	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	1998490	66033414	68973102	74	21957											
ATG16L2	89849	genome.wustl.edu	37	11	72527857	72527857	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:72527857C>T	ENST00000321297.5	+	2	341	c.203C>T	c.(202-204)aCc>aTc	p.T68I	ATG16L2_ENST00000451353.2_3'UTR|ATG16L2_ENST00000534905.1_Missense_Mutation_p.T68I	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	68					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			ACTCCCACCACCCACCAGGGC	0.587																																																0			11											72	65	67					11																	72527857		2200	4293	6493	72205505	SO:0001583	missense	89849			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.203C>T	11.37:g.72527857C>T	ENSP00000326340:p.Thr68Ile		72205505	A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.294|6.294	0.422286|0.422286	0.11928|0.11928	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000540567|ENST00000321297;ENST00000534905	.|T;T	.|0.51325	.|0.71;0.71	4.0|4.0	-1.32|-1.32	0.09201|0.09201	.|Autophagy-related protein 16 (1);	.|1.394770	.|0.05236	.|N	.|0.511296	T|T	0.36524|0.36524	0.0970|0.0970	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.30482	.|0.194;0.281;0.022;0.178	.|B;B;B;B	.|0.30105	.|0.064;0.111;0.037;0.054	T|T	0.25502|0.25502	-1.0130|-1.0130	5|10	.|0.38643	.|T	.|0.18	.|.	4.1627|4.1627	0.10291|0.10291	0.0:0.3942:0.174:0.4319|0.0:0.3942:0.174:0.4319	.|.	.|68;68;68;67	.|B4E090;F5GWZ9;Q8NAA4;Q2VPK0	.|.;.;A16L2_HUMAN;.	S|I	73|68	.|ENSP00000326340:T68I;ENSP00000441189:T68I	.|ENSP00000326340:T68I	P|T	+|+	1|2	0|0	ATG16L2|ATG16L2	72205505|72205505	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.701000|0.701000	0.40568|0.40568	-0.569000|-0.569000	0.05902|0.05902	-0.241000|-0.241000	0.09681|0.09681	0.561000|0.561000	0.74099|0.74099	CCC|ACC		0.587	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		T	72527857	C	T	72527857	3	4	400	1	0	0	0	0	1	0	0	0	1092	507	18	2	209	2	ATG16L2	11	72527857	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	6494443	72527857	62478659	75	21958											
POLD3	10714	genome.wustl.edu	37	11	74303709	74303709	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:74303709G>A	ENST00000263681.2	+	1	135	c.6G>A	c.(4-6)gcG>gcA	p.A2A	POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_5'UTR|POLD3_ENST00000532784.1_3'UTR	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	2					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCACCATGGCGGACCAGCTTT	0.617																																																0			11											24	25	25					11																	74303709		2200	4293	6493	73981357	SO:0001819	synonymous_variant	10714			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.6G>A	11.37:g.74303709G>A			73981357	B7ZAI6|Q32MZ9|Q32N00	Silent	SNP	ENST00000263681.2	37	CCDS8233.1																																																																																				0.617	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		A	74303709	G	A	74303709	2	1	400	1	0	0	0	0	0	0	0	1	12192	1103	39	1		1	POLD3	11	74303709	Silent	SNP	G	TCGA-42-2587-01A-01D-1526-09	1775852	74303709	60702807	76	21959											
MTNR1B	4544	genome.wustl.edu	37	11	92702947	92702947	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:92702947G>A	ENST00000257068.2	+	1	62	c.56G>A	c.(55-57)cGc>cAc	p.R19H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	19					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGGGCAGTGCGCCCGGGCTGG	0.741																																																0			11											8	10	9					11																	92702947		2098	4072	6170	92342595	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.56G>A	11.37:g.92702947G>A	ENSP00000257068:p.Arg19His		92342595		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013391	0.35511	.	.	ENSG00000134640	ENST00000257068	T	0.73575	-0.76	4.36	-0.271	0.12922	.	0.746897	0.12367	N	0.475152	T	0.55862	0.1947	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.45101	-0.9284	10	0.42905	T	0.14	-7.715	6.8946	0.24249	0.1613:0.2447:0.594:0.0	.	19	P49286	MTR1B_HUMAN	H	19	ENSP00000257068:R19H	ENSP00000257068:R19H	R	+	2	0	MTNR1B	92342595	0.001000	0.12720	0.494000	0.27515	0.025000	0.11179	0.555000	0.23422	0.307000	0.22880	-0.463000	0.05309	CGC		0.741	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			A	92702947	G	A	92702947	3	1	400	1	0	0	0	0	1	0	0	0	9952	1087	38	1	58	1	MTNR1B	11	92702947	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	18399238	92702947	42303569	77	21960											
POU2AF1	5450	genome.wustl.edu	37	11	111225140	111225140	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:111225140A>G	ENST00000393067.3	-	5	1131	c.617T>C	c.(616-618)gTc>gCc	p.V206A		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	206					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGGGAGCTGGACAAACTGGGG	0.612			T	BCL6	NHL																																		Dom	yes		11	11q23.1	5450	"POU domain, class 2, associating factor 1 (OBF1)"		L	0			11											51	55	54					11																	111225140		2201	4297	6498	110730350	SO:0001583	missense	5450				CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.617T>C	11.37:g.111225140A>G	ENSP00000376786:p.Val206Ala		110730350	B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620556	0.66787	.	.	ENSG00000110777	ENST00000393067	T	0.36157	1.27	4.94	4.94	0.65067	.	0.074563	0.51477	D	0.000087	T	0.38852	0.1056	L	0.53249	1.67	0.38423	D	0.946223	P	0.42456	0.78	B	0.42112	0.376	T	0.48317	-0.9046	10	0.72032	D	0.01	-36.8693	14.4288	0.67236	1.0:0.0:0.0:0.0	.	206	Q16633	OBF1_HUMAN	A	206	ENSP00000376786:V206A	ENSP00000376786:V206A	V	-	2	0	POU2AF1	110730350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.556000	0.73932	2.067000	0.61834	0.460000	0.39030	GTC		0.612	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		G	111225140	A	G	111225140	3	3	400	1	0	0	0	0	1	0	0	0	12270	275	10	4	157	4	POU2AF1	11	111225140	Missense_Mutation	SNP	A	TCGA-42-2587-01A-01D-1526-09	18522193	111225140	23781376	78	21961											
SIK3	23387	genome.wustl.edu	37	11	116824810	116824810	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:116824810T>G	ENST00000292055.4	-	3	265	c.230A>C	c.(229-231)gAa>gCa	p.E77A	SIK3_ENST00000375300.1_Missense_Mutation_p.E135A|SIK3_ENST00000542607.1_Missense_Mutation_p.E77A|SIK3_ENST00000446921.2_Missense_Mutation_p.E135A|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AATCATCCGTTCTGTCTCCAT	0.398																																																0			11											134	111	119					11																	116824810		2201	4296	6497	116330020	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.230A>C	11.37:g.116824810T>G	ENSP00000292055:p.Glu77Ala		116330020	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.684961|4.684961	0.88639|0.88639	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607|ENST00000445177;ENST00000446921;ENST00000413553	T;T;T|.	0.25749|.	1.78;1.78;1.78|.	5.36|5.36	5.36|5.36	0.76844|0.76844	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|.	0.41712|.	U|.	0.000831|.	T|T	0.59797|0.59797	0.2220|0.2220	L|L	0.39467|0.39467	1.215|1.215	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.991;0.997|.	D;D|.	0.72982|.	0.979;0.969|.	T|T	0.56535|0.56535	-0.7963|-0.7963	10|5	0.66056|.	D|.	0.02|.	.|.	15.655|15.655	0.77126|0.77126	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	77;77|.	A1A5A8;Q9Y2K2|.	.;SIK3_HUMAN|.	A|S	135;77;77|128;99;37	ENSP00000364449:E135A;ENSP00000292055:E77A;ENSP00000438108:E77A|.	ENSP00000292055:E77A|.	E|R	-|-	2|3	0|2	SIK3|SIK3	116330020|116330020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.655000|7.655000	0.83696|0.83696	2.173000|2.173000	0.68751|0.68751	0.533000|0.533000	0.62120|0.62120	GAA|AGA		0.398	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		G	116824810	T	G	116824810	3	3	400	1	0	0	0	0	1	0	0	0	14322	1783	62	5	3645	5	SIK3	11	116824810	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	5599670	116824810	18181706	79	21962											
BCL9L	283149	genome.wustl.edu	37	11	118773562	118773562	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:118773562C>A	ENST00000334801.3	-	6	1854	c.890G>T	c.(889-891)gGc>gTc	p.G297V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	297	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGCGGGGTGCCTGCTGACGG	0.701																																																0			11											7	9	8					11																	118773562		2128	4210	6338	118278772	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.890G>T	11.37:g.118773562C>A	ENSP00000335320:p.Gly297Val		118278772	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412966	0.42817	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.65364	-0.15	3.87	3.87	0.44632	.	0.300767	0.23910	N	0.043349	T	0.60521	0.2275	N	0.24115	0.695	0.50813	D	0.999891	D;D	0.61080	0.989;0.982	P;P	0.61132	0.884;0.769	T	0.63386	-0.6649	10	0.72032	D	0.01	.	8.4408	0.32814	0.0:0.8788:0.0:0.1212	.	292;297	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	297;260;297;297	ENSP00000335320:G297V	ENSP00000335320:G297V	G	-	2	0	BCL9L	118278772	0.007000	0.16637	1.000000	0.80357	0.203000	0.24098	0.901000	0.28445	2.007000	0.58848	0.305000	0.20034	GGC		0.701	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		A	118773562	C	A	118773562	3	1	400	1	0	0	0	0	1	0	0	0	1382	739	26	3	3621	3	BCL9L	11	118773562	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	1948752	118773562	16232954	80	21963											
SORL1	6653	genome.wustl.edu	37	11	121428091	121428091	+	Silent	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:121428091T>C	ENST00000260197.7	+	19	2769	c.2640T>C	c.(2638-2640)gcT>gcC	p.A880A		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	880					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCCCAGGGCTCTGGTCCTCG	0.502																																																0			11											151	125	133					11																	121428091		2203	4299	6502	120933301	SO:0001819	synonymous_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2640T>C	11.37:g.121428091T>C			120933301	B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	CCDS8436.1																																																																																				0.502	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		C	121428091	T	C	121428091	2	2	400	1	0	0	0	0	0	0	0	1	14937	1538	54	4		4	SORL1	11	121428091	Silent	SNP	T	TCGA-42-2587-01A-01D-1526-09	2654529	121428091	13578425	81	21964											
OR8A1	390275	genome.wustl.edu	37	11	124440034	124440034	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:124440034T>G	ENST00000284287.3	+	1	142	c.70T>G	c.(70-72)Tct>Gct	p.S24A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	24					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AGGAAATCACTCTACAGTGAC	0.517																																																0			11											74	71	72					11																	124440034		2201	4299	6500	123945244	SO:0001583	missense	390275			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.70T>G	11.37:g.124440034T>G	ENSP00000284287:p.Ser24Ala		123945244	Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073924	0.36566	.	.	ENSG00000196119	ENST00000284287	T	0.01414	4.92	5.08	5.08	0.68730	.	0.000000	0.44483	D	0.000454	T	0.06325	0.0163	M	0.82923	2.615	0.31564	N	0.657183	P	0.52842	0.956	P	0.56474	0.799	T	0.00953	-1.1502	10	0.87932	D	0	.	9.9921	0.41877	0.151:0.0:0.0:0.849	.	24	Q8NGG7	OR8A1_HUMAN	A	24	ENSP00000284287:S24A	ENSP00000284287:S24A	S	+	1	0	OR8A1	123945244	0.001000	0.12720	0.996000	0.52242	0.020000	0.10135	0.562000	0.23531	2.130000	0.65690	0.477000	0.44152	TCT		0.517	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		G	124440034	T	G	124440034	3	3	400	1	0	0	0	0	1	0	0	0	11225	1551	54	5	72	5	OR8A1	11	124440034	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	3011943	124440034	10566482	82	21965											
ROBO4	54538	genome.wustl.edu	37	11	124765553	124765553	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:124765553G>T	ENST00000306534.3	-	6	1321	c.836C>A	c.(835-837)tCt>tAt	p.S279Y	ROBO4_ENST00000533054.1_Missense_Mutation_p.S134Y|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	279	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCCGTGTAAGATTGGGCAGG	0.662																																																0			11											36	44	41					11																	124765553		2195	4292	6487	124270763	SO:0001583	missense	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.836C>A	11.37:g.124765553G>T	ENSP00000304945:p.Ser279Tyr		124270763	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710268	0.68730	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.54675	0.56;0.56	5.49	4.38	0.52667	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.37623	N	0.002012	T	0.58581	0.2132	L	0.51422	1.61	0.28453	N	0.916266	D;D	0.67145	0.995;0.996	P;P	0.61201	0.885;0.862	T	0.53019	-0.8497	10	0.42905	T	0.14	.	7.8138	0.29247	0.0979:0.1689:0.7332:0.0	.	169;279	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	Y	279;169;134	ENSP00000304945:S279Y;ENSP00000437129:S134Y	ENSP00000304945:S279Y	S	-	2	0	ROBO4	124270763	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.157000	0.42320	2.575000	0.86900	0.561000	0.74099	TCT		0.662	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		T	124765553	G	T	124765553	3	4	400	1	0	0	0	0	1	0	0	0	13519	942	33	3	2239	3	ROBO4	11	124765553	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	325519	124765553	10240963	83	21966											
AKAP3	10566	genome.wustl.edu	37	12	4736433	4736433	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:4736433C>A	ENST00000545990.2	-	5	2159	c.1635G>T	c.(1633-1635)agG>agT	p.R545S	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.R545S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	545					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCCGTGCATCCCTTCTTCCTC	0.517																																																0			12											44	45	45					12																	4736433		2203	4300	6503	4606694	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1635G>T	12.37:g.4736433C>A	ENSP00000440994:p.Arg545Ser		4606694	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	8.354	0.831545	0.16820	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.06768	3.26;3.26	5.95	5.95	0.96441	A-kinase anchor 110kDa, C-terminal (1);	0.226724	0.40640	N	0.001047	T	0.07954	0.0199	N	0.22421	0.69	0.32146	N	0.584918	B	0.23316	0.083	B	0.24006	0.05	T	0.07290	-1.0780	10	0.40728	T	0.16	-23.5313	15.8855	0.79244	0.0:1.0:0.0:0.0	.	545	O75969	AKAP3_HUMAN	S	545	ENSP00000228850:R545S;ENSP00000440994:R545S	ENSP00000228850:R545S	R	-	3	2	AKAP3	4606694	0.985000	0.35326	1.000000	0.80357	0.774000	0.43823	1.821000	0.39041	2.825000	0.97269	0.655000	0.94253	AGG		0.517	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		A	4736433	C	A	4736433	3	1	400	1	0	0	0	0	1	0	0	0	452	622	22	3	934	3	AKAP3	12	4736433	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09		4736433	129115462	84	21967											
PFKM	5213	genome.wustl.edu	37	12	48535129	48535129	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:48535129G>T	ENST00000312352.7	+	15	1416	c.1377G>T	c.(1375-1377)tgG>tgT	p.W459C	PFKM_ENST00000359794.5_Missense_Mutation_p.W459C|PFKM_ENST00000395233.2_Missense_Mutation_p.W428C|PFKM_ENST00000551804.1_Missense_Mutation_p.W428C|PFKM_ENST00000340802.6_Missense_Mutation_p.W530C|PFKM_ENST00000547587.1_Missense_Mutation_p.W459C	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	459	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGGGGCTGGACTGGCCAAG	0.547																																																0			12											100	95	97					12																	48535129		2203	4300	6503	46821396	SO:0001583	missense	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1377G>T	12.37:g.48535129G>T	ENSP00000309438:p.Trp459Cys		46821396	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614982	0.87359	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.1	5.1	0.69264	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.986;0.997;0.999	D	0.93623	0.6949	10	0.87932	D	0	-11.0623	18.677	0.91532	0.0:0.0:1.0:0.0	.	428;459;530	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	C	530;459;428;428;459;459;74	ENSP00000345771:W530C;ENSP00000352842:W459C;ENSP00000378656:W428C;ENSP00000448177:W428C;ENSP00000449426:W459C;ENSP00000309438:W459C;ENSP00000446519:W74C	ENSP00000309438:W459C	W	+	3	0	PFKM	46821396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.825000	0.97269	0.655000	0.94253	TGG		0.547	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		T	48535129	G	T	48535129	3	4	400	1	0	0	0	0	1	0	0	0	11765	1183	41	3	1652	3	PFKM	12	48535129	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	43798696	48535129	85316766	85	21968											
PRKAG1	5571	genome.wustl.edu	37	12	49398332	49398332	+	Nonsense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:49398332G>C	ENST00000548065.1	-	8	951	c.495C>G	c.(493-495)taC>taG	p.Y165*	PRKAG1_ENST00000552212.1_Nonsense_Mutation_p.Y133*|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Nonsense_Mutation_p.Y174*|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Nonsense_Mutation_p.Y81*|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000547306.1_Nonsense_Mutation_p.Y114*			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	165	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GGGTGAGGATGTACAAAGTAT	0.418																																																0			12											283	281	282					12																	49398332		2203	4300	6503	47684599	SO:0001587	stop_gained	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.495C>G	12.37:g.49398332G>C	ENSP00000447433:p.Tyr165*		47684599	B4DDT7|Q8N7V9	Nonsense_Mutation	SNP	ENST00000548065.1	37	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943196	0.73672	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000548950;ENST00000551121	.	.	.	5.55	1.43	0.22495	.	0.056897	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1521	13.1464	0.59463	0.2854:0.0:0.7146:0.0	.	.	.	.	X	81;114;174;165;133;81;133	.	ENSP00000323867:Y174X	Y	-	3	2	PRKAG1	47684599	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.043000	0.30316	0.164000	0.19529	-1.094000	0.02160	TAC		0.418	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		C	49398332	G	C	49398332	4	2	400	1	0	0	0	0	0	1	0	0	12503	1372	48	3	520	3	PRKAG1	12	49398332	Nonsense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	863203	49398332	84453563	86	21969											
AQP2	359	genome.wustl.edu	37	12	50344953	50344953	+	Missense_Mutation	SNP	G	G	A	rs370232864		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:50344953G>A	ENST00000199280.3	+	1	425	c.340G>A	c.(340-342)Ggg>Agg	p.G114R	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	114					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						AGACATCCGCGGGGACCTGGC	0.627																																																0			12						G	ARG/GLY	2,4398		0,2,2198	17	17	17		340	4.7	0.9	12		17	2,8590		0,2,4294	no	missense	AQP2	NM_000486.5	125	0,4,6492	AA,AG,GG		0.0233,0.0455,0.0308	probably-damaging	114/272	50344953	4,12988	2200	4296	6496	48631220	SO:0001583	missense	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.340G>A	12.37:g.50344953G>A	ENSP00000199280:p.Gly114Arg		48631220	Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502516	0.85176	4.55E-4	2.33E-4	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.85088	-1.94;-1.94	4.67	4.67	0.58626	Aquaporin-like (2);	0.000000	0.56097	D	0.000034	D	0.92909	0.7744	M	0.87180	2.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.94155	0.7409	10	0.87932	D	0	-22.4144	15.4708	0.75439	0.0:0.0:1.0:0.0	.	114	P41181	AQP2_HUMAN	R	114	ENSP00000199280:G114R;ENSP00000450022:G114R	ENSP00000199280:G114R	G	+	1	0	AQP2	48631220	1.000000	0.71417	0.927000	0.36925	0.926000	0.56050	6.423000	0.73361	2.323000	0.78572	0.655000	0.94253	GGG		0.627	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		A	50344953	G	A	50344953	3	1	400	1	0	0	0	0	1	0	0	0	826	1116	39	1	342	1	AQP2	12	50344953	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	946621	50344953	83506942	87	21970											
PAN2	9924	genome.wustl.edu	37	12	56713505	56713505	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:56713505T>A	ENST00000425394.2	-	22	3378	c.3002A>T	c.(3001-3003)aAa>aTa	p.K1001I	PAN2_ENST00000257931.5_Missense_Mutation_p.K1000I|PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000548043.1_Missense_Mutation_p.K1001I|PAN2_ENST00000440411.3_Missense_Mutation_p.K997I	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CTGGCTTGGTTTAATGGTAGA	0.463																																																0			12											197	173	181					12																	56713505		2203	4300	6503	54999772	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.3002A>T	12.37:g.56713505T>A	ENSP00000401721:p.Lys1001Ile		54999772		Missense_Mutation	SNP	ENST00000425394.2	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831009	0.91036	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.66	5.66	0.87406	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	M	0.87682	2.9	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;D	0.75020	0.974;0.974;0.985	T	0.64499	-0.6393	10	0.87932	D	0	-13.8957	15.2009	0.73136	0.0:0.0:0.0:1.0	.	1000;997;1001	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	I	1001;997;1000;1001	ENSP00000401721:K1001I;ENSP00000388231:K997I;ENSP00000257931:K1000I;ENSP00000449861:K1001I	ENSP00000257931:K1000I	K	-	2	0	PAN2	54999772	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.961000	0.87903	2.291000	0.77112	0.533000	0.62120	AAA		0.463	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		A	56713505	T	A	56713505	3	1	400	1	0	0	0	0	1	0	0	0	11414	1841	64	5	626	5	PAN2	12	56713505	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	6368552	56713505	77138390	88	21971											
TPH2	121278	genome.wustl.edu	37	12	72366384	72366384	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:72366384C>G	ENST00000333850.3	+	6	835	c.694C>G	c.(694-696)Ccc>Gcc	p.P232A		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	232					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAAACTCTATCCCACTCATGC	0.473																																																0			12											278	287	284					12																	72366384		2203	4300	6503	70652651	SO:0001583	missense	121278			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.694C>G	12.37:g.72366384C>G	ENSP00000329093:p.Pro232Ala		70652651	A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609905	0.66558	.	.	ENSG00000139287	ENST00000333850	D	0.99563	-6.17	5.48	5.48	0.80851	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	M	0.81112	2.525	0.80722	D	1	B	0.31680	0.335	B	0.36335	0.222	D	0.99956	1.1639	10	0.38643	T	0.18	-17.152	19.3506	0.94384	0.0:1.0:0.0:0.0	.	232	Q8IWU9	TPH2_HUMAN	A	232	ENSP00000329093:P232A	ENSP00000329093:P232A	P	+	1	0	TPH2	70652651	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.814000	0.86154	2.566000	0.86566	0.462000	0.41574	CCC		0.473	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		G	72366384	C	G	72366384	3	3	400	1	0	0	0	0	1	0	0	0	16402	855	30	3	716	3	TPH2	12	72366384	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	15652879	72366384	61485511	89	21972											
TMTC3	160418	genome.wustl.edu	37	12	88586468	88586468	+	Silent	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:88586468T>C	ENST00000266712.6	+	13	2014	c.1794T>C	c.(1792-1794)gaT>gaC	p.D598D		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	598					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATAATGCAGATCTTTGGTACA	0.338																																																0			12											94	99	97					12																	88586468		2203	4299	6502	87110599	SO:0001819	synonymous_variant	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1794T>C	12.37:g.88586468T>C			87110599	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	ENST00000266712.6	37	CCDS9032.1																																																																																				0.338	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		C	88586468	T	C	88586468	2	2	400	1	0	0	0	0	0	0	0	1	16262	1432	50	4		4	TMTC3	12	88586468	Silent	SNP	T	TCGA-42-2587-01A-01D-1526-09	16220084	88586468	45265427	90	21973											
HPD	3242	genome.wustl.edu	37	12	122281642	122281642	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:122281642C>G	ENST00000289004.4	-	12	963	c.928G>C	c.(928-930)Gtg>Ctg	p.V310L	HPD_ENST00000543163.1_Missense_Mutation_p.V271L	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	310					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TTCTCCTTCACCTTGATCTTG	0.517																																																0			12											161	132	142					12																	122281642		2203	4300	6503	120766025	SO:0001583	missense	3242			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.928G>C	12.37:g.122281642C>G	ENSP00000289004:p.Val310Leu		120766025	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	9.954	1.220992	0.22457	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.62364	0.03;0.03	4.39	4.39	0.52855	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.129222	0.52532	D	0.000070	T	0.55337	0.1914	L	0.49571	1.57	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.52533	-0.8563	10	0.13108	T	0.6	-28.1461	16.7761	0.85550	0.0:1.0:0.0:0.0	.	310	P32754	HPPD_HUMAN	L	310;307;271	ENSP00000289004:V310L;ENSP00000441677:V271L	ENSP00000289004:V310L	V	-	1	0	HPD	120766025	0.996000	0.38824	0.972000	0.41901	0.797000	0.45037	2.894000	0.48640	2.284000	0.76573	0.561000	0.74099	GTG		0.517	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		G	122281642	C	G	122281642	3	3	400	1	0	0	0	0	1	0	0	0	7332	507	18	3	265	3	HPD	12	122281642	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	33695174	122281642	11570253	91	21974											
UPF3A	65110	genome.wustl.edu	37	13	115057249	115057249	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr13:115057249G>C	ENST00000375299.3	+	7	884	c.828G>C	c.(826-828)gaG>gaC	p.E276D	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.E243D	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	276					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		aaattgcagagaaagaagTAA	0.308																																																0			13											41	42	42					13																	115057249		2197	4297	6494	114075351	SO:0001583	missense	65110			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.828G>C	13.37:g.115057249G>C	ENSP00000364448:p.Glu276Asp		114075351	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872163	0.33069	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	D;T	0.82619	-1.63;1.5	5.84	4.82	0.62117	.	0.364269	0.30227	N	0.010110	D	0.88764	0.6525	M	0.74881	2.28	0.41506	D	0.98831	P;D	0.69078	0.724;0.997	P;D	0.72625	0.487;0.978	D	0.88091	0.2813	9	.	.	.	-12.5724	8.9135	0.35568	0.171:0.0:0.829:0.0	.	243;276	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	D	276;243;75	ENSP00000364448:E276D;ENSP00000329592:E243D	.	E	+	3	2	UPF3A	114075351	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	0.576000	0.23744	2.765000	0.95021	0.655000	0.94253	GAG		0.308	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			C	115057249	G	C	115057249	3	2	400	1	0	0	0	0	1	0	0	0	17005	933	33	3	854	3	UPF3A	13	115057249	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09		115057249	112629	92	21975											
MYH6	4624	genome.wustl.edu	37	14	23868006	23868006	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr14:23868006C>A	ENST00000356287.3	-	14	1851	c.1822G>T	c.(1822-1824)Gcc>Tcc	p.A608S	MYH6_ENST00000405093.3_Missense_Mutation_p.A608S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	608	Myosin motor.			A -> G (in Ref. 1; BAA00791). {ECO:0000305}.	adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGTACAGGGCCACAACAGTC	0.577																																																0			14											187	162	170					14																	23868006		2203	4300	6503	22937846	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1822G>T	14.37:g.23868006C>A	ENSP00000348634:p.Ala608Ser		22937846	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.911758	0.52439	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86769	-2.17;-2.17	4.61	4.61	0.57282	Myosin head, motor domain (2);	.	.	.	.	D	0.82843	0.5125	L	0.28740	0.885	0.24190	N	0.995559	B	0.13594	0.008	B	0.25759	0.063	T	0.72561	-0.4256	9	0.41790	T	0.15	.	16.776	0.85550	0.0:1.0:0.0:0.0	.	608	P13533	MYH6_HUMAN	S	608	ENSP00000386041:A608S;ENSP00000348634:A608S	ENSP00000348634:A608S	A	-	1	0	MYH6	22937846	0.182000	0.23173	0.979000	0.43373	0.827000	0.46813	3.769000	0.55303	2.284000	0.76573	0.655000	0.94253	GCC		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			A	23868006	C	A	23868006	3	1	400	1	0	0	0	0	1	0	0	0	10038	739	26	3	4097	3	MYH6	14	23868006	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09		23868006	83481534	93	21976											
NDNL2	56160	genome.wustl.edu	37	15	29561597	29561597	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:29561597G>C	ENST00000332303.4	-	1	436	c.313C>G	c.(313-315)Ccg>Gcg	p.P105A	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	105	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGCTTGATCGGAATCTTCTTC	0.602																																																0			15											101	96	98					15																	29561597		2203	4300	6503	27348889	SO:0001583	missense	56160			AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.313C>G	15.37:g.29561597G>C	ENSP00000330694:p.Pro105Ala		27348889	Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714204	0.68730	.	.	ENSG00000185115	ENST00000332303	T	0.06608	3.28	3.65	2.73	0.32206	.	0.000000	0.85682	U	0.000000	T	0.20088	0.0483	M	0.82193	2.58	0.43010	D	0.994548	D	0.60575	0.988	D	0.65323	0.934	T	0.00747	-1.1583	10	0.48119	T	0.1	.	6.905	0.24303	0.1254:0.0:0.8746:0.0	.	105	Q96MG7	MAGG1_HUMAN	A	105	ENSP00000330694:P105A	ENSP00000330694:P105A	P	-	1	0	NDNL2	27348889	1.000000	0.71417	0.944000	0.38274	0.958000	0.62258	5.897000	0.69831	1.093000	0.41377	0.563000	0.77884	CCG		0.602	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		C	29561597	G	C	29561597	3	2	400	1	0	0	0	0	1	0	0	0	10248	1174	41	3	605	3	NDNL2	15	29561597	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09		29561597	72969795	94	21977											
IGDCC3	9543	genome.wustl.edu	37	15	65623543	65623543	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:65623543T>C	ENST00000327987.4	-	9	1657	c.1406A>G	c.(1405-1407)gAg>gGg	p.E469G	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	469	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATACTCCAGCTCCGGTGGGTC	0.617											OREG0007241	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=PUNC|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																				0			15											120	120	120					15																	65623543		2201	4299	6500	63410596	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1406A>G	15.37:g.65623543T>C	ENSP00000332773:p.Glu469Gly	1085	63410596	O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	T	9.123	1.009510	0.19277	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.57907	0.37	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215444	0.42294	D	0.000726	T	0.31979	0.0814	N	0.04148	-0.265	0.42570	D	0.993173	B	0.09022	0.002	B	0.12156	0.007	T	0.11494	-1.0585	10	0.30854	T	0.27	-18.7394	15.0317	0.71713	0.0:0.0:0.0:1.0	.	469	Q8IVU1	IGDC3_HUMAN	G	469;332	ENSP00000332773:E469G	ENSP00000332773:E469G	E	-	2	0	IGDCC3	63410596	0.998000	0.40836	0.692000	0.30179	0.123000	0.20343	5.130000	0.64745	1.937000	0.56155	0.533000	0.62120	GAG		0.617	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		C	65623543	T	C	65623543	3	2	400	1	0	0	0	0	1	0	0	0	7568	1551	54	4	1062	4	IGDCC3	15	65623543	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	36061946	65623543	36907849	95	21978											
CYP1A2	1544	genome.wustl.edu	37	15	75042402	75042402	+	Missense_Mutation	SNP	G	G	A	rs376179316		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:75042402G>A	ENST00000343932.4	+	2	386	c.323G>A	c.(322-324)cGg>cAg	p.R108Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	108					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	TTCAAGGGCCGGCCTGACCTC	0.677																																																0			15						G	GLN/ARG	0,4394		0,0,2197	54	50	51		323	4.8	1	15		51	1,8589	1.2+/-3.3	0,1,4294	no	missense	CYP1A2	NM_000761.3	43	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/517	75042402	1,12983	2197	4295	6492	72829455	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.323G>A	15.37:g.75042402G>A	ENSP00000342007:p.Arg108Gln		72829455	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865895	0.91511	0.0	1.16E-4	ENSG00000140505	ENST00000343932	D	0.82984	-1.67	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.95319	0.8481	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97559	1.0097	10	0.87932	D	0	.	18.1026	0.89510	0.0:0.0:1.0:0.0	.	108	P05177-2	.	Q	108	ENSP00000342007:R108Q	ENSP00000342007:R108Q	R	+	2	0	CYP1A2	72829455	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	9.325000	0.96381	2.499000	0.84300	0.561000	0.74099	CGG		0.677	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75042402	G	A	75042402	3	1	400	1	0	0	0	0	1	0	0	0	4150	1116	39	1	325	1	CYP1A2	15	75042402	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	9418859	75042402	27488990	96	21979											
RASGRF1	5923	genome.wustl.edu	37	15	79304860	79304860	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:79304860C>A	ENST00000419573.3	-	14	2110	c.1836G>T	c.(1834-1836)agG>agT	p.R612S	RASGRF1_ENST00000560334.1_Intron|RASGRF1_ENST00000558480.2_Intron	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	612					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						tggtcccCTCCCTGGTCCTCC	0.458																																																0			15											100	89	93					15																	79304860		2196	4293	6489	77091915	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1836G>T	15.37:g.79304860C>A	ENSP00000405963:p.Arg612Ser		77091915	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.977649	0.00452	.	.	ENSG00000058335	ENST00000419573	T	0.57907	0.37	0.779	-1.56	0.08532	.	5.504280	0.01098	N	0.005315	T	0.29817	0.0745	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09751	-1.0660	10	0.15952	T	0.53	.	5.3263	0.15908	0.3638:0.6362:0.0:0.0	.	612	Q13972	RGRF1_HUMAN	S	612	ENSP00000405963:R612S	ENSP00000405963:R612S	R	-	3	2	RASGRF1	77091915	0.001000	0.12720	0.001000	0.08648	0.292000	0.27327	-1.334000	0.02665	-1.149000	0.02843	-1.206000	0.01644	AGG		0.458	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79304860	C	A	79304860	3	1	400	1	0	0	0	0	1	0	0	0	13075	622	22	3	2045	3	RASGRF1	15	79304860	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	4262458	79304860	23226532	97	21980											
CHSY1	22856	genome.wustl.edu	37	15	101718613	101718613	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:101718613C>G	ENST00000254190.3	-	3	1864	c.1389G>C	c.(1387-1389)atG>atC	p.M463I	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	463					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGGGACCGTCATTTTCTTCC	0.512																																																0			15											46	44	45					15																	101718613		2203	4300	6503	99536136	SO:0001583	missense	22856			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1389G>C	15.37:g.101718613C>G	ENSP00000254190:p.Met463Ile		99536136	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.316961	0.40996	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.16324	2.35	5.8	5.8	0.92144	.	0.042833	0.85682	D	0.000000	T	0.22898	0.0553	L	0.60845	1.875	0.80722	D	1	B	0.19583	0.037	B	0.18871	0.023	T	0.01966	-1.1238	10	0.33940	T	0.23	-47.466	20.063	0.97692	0.0:1.0:0.0:0.0	.	463	Q86X52	CHSS1_HUMAN	I	463;191	ENSP00000254190:M463I	ENSP00000254190:M463I	M	-	3	0	CHSY1	99536136	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.818000	0.69236	2.735000	0.93741	0.655000	0.94253	ATG		0.512	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		G	101718613	C	G	101718613	3	3	400	1	0	0	0	0	1	0	0	0	3412	826	29	3	1023	3	CHSY1	15	101718613	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	22413753	101718613	812779	98	21981											
OR4F6	390648	genome.wustl.edu	37	15	102346199	102346199	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:102346199T>C	ENST00000328882.4	+	1	298	c.277T>C	c.(277-279)Tct>Cct	p.S93P		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAAGACCATCTCTTTTGGGGG	0.463																																																0			15											204	195	198					15																	102346199		2203	4300	6503	100163722	SO:0001583	missense	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.277T>C	15.37:g.102346199T>C	ENSP00000327525:p.Ser93Pro		100163722	B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	14.04	2.418037	0.42918	.	.	ENSG00000184140	ENST00000328882	T	0.00737	5.76	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000050	T	0.04227	0.0117	M	0.82056	2.57	0.24271	N	0.995243	D	0.76494	0.999	D	0.73380	0.98	T	0.06373	-1.0830	10	0.72032	D	0.01	.	12.6892	0.56964	0.0:0.0:0.0:1.0	.	93	Q8NGB9	OR4F6_HUMAN	P	93	ENSP00000327525:S93P	ENSP00000327525:S93P	S	+	1	0	OR4F6	100163722	0.003000	0.15002	0.797000	0.32132	0.322000	0.28314	0.920000	0.28705	2.157000	0.67596	0.482000	0.46254	TCT		0.463	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			C	102346199	T	C	102346199	3	2	400	1	0	0	0	0	1	0	0	0	11066	1551	54	4	279	4	OR4F6	15	102346199	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	627586	102346199	185193	99	21982											
STUB1	9028	genome.wustl.edu	37	16	731186	731186	+	IGR	SNP	A	A	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:731186A>T	ENST00000219551.2	+	0	1560				STUB1_ENST00000564370.1_5'UTR|STUB1_ENST00000219548.4_Missense_Mutation_p.N65I|LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_5'UTR			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)						signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TATTACACCAACCGGGCCTTG	0.682																																																0			16											20	20	20					16																	731186		2179	4287	6466	671187	SO:0001628	intergenic_variant	10273			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141		16.37:g.731186A>T			671187	A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.771747	0.90108	.	.	ENSG00000103266	ENST00000219548	T	0.69806	-0.43	4.3	4.3	0.51218	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92922	0.6356	10	0.87932	D	0	-40.2213	12.7873	0.57514	1.0:0.0:0.0:0.0	.	65	Q9UNE7	CHIP_HUMAN	I	65	ENSP00000219548:N65I	ENSP00000219548:N65I	N	+	2	0	STUB1	671187	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.745000	0.91600	1.801000	0.52704	0.459000	0.35465	AAC		0.682	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		T	731186	A	T	731186	1	4	400	0	1	0	0	0	0	0	0	0	15337	43	2	5		5	STUB1	16	731186	IGR	SNP	A	TCGA-42-2587-01A-01D-1526-09		731186	89623567	100	21983											
NOXO1	124056	genome.wustl.edu	37	16	2030431	2030431	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:2030431G>C	ENST00000397280.4	-	4	356	c.353C>G	c.(352-354)cCg>cGg	p.P118R	TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.P117R|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000354249.4_Missense_Mutation_p.P112R|NOXO1_ENST00000356120.4_Missense_Mutation_p.P113R			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	118	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	AGTGATCGTCGGGCTCCGTGC	0.706																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)											0			16											23	32	29					16																	2030431		2193	4291	6484	1970432	SO:0001583	missense	124056			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.353C>G	16.37:g.2030431G>C	ENSP00000380450:p.Pro118Arg		1970432	Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	ENST00000397280.4	37	CCDS42101.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377366	0.24944	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.70164	-0.46;1.11;1.11	4.99	1.5	0.22942	Phox homologous domain (4);	1.148870	0.06114	N	0.667656	T	0.68375	0.2994	M	0.66297	2.02	0.09310	N	1	P;P;P;P	0.38729	0.459;0.459;0.591;0.644	B;B;B;P	0.45138	0.108;0.067;0.148;0.471	T	0.54417	-0.8297	10	0.33940	T	0.23	-6.2232	5.8778	0.18838	0.1886:0.0:0.6171:0.1943	.	117;112;113;118	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	R	112;113;118	ENSP00000346195:P112R;ENSP00000348435:P113R;ENSP00000380450:P118R	ENSP00000346195:P112R	P	-	2	0	NOXO1	1970432	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.422000	0.21296	0.505000	0.28104	0.462000	0.41574	CCG		0.706	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			C	2030431	G	C	2030431	3	2	400	1	0	0	0	0	1	0	0	0	10561	1116	39	3	797	3	NOXO1	16	2030431	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	1299245	2030431	88324322	101	21984											
ITGAL	3683	genome.wustl.edu	37	16	30522399	30522399	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:30522399G>A	ENST00000356798.6	+	24	2908	c.2728G>A	c.(2728-2730)Gac>Aac	p.D910N	ITGAL_ENST00000358164.5_Missense_Mutation_p.D826N|ITGAL_ENST00000433423.2_Missense_Mutation_p.D144N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	910					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CCTCCTGGAGGACAACTCAGC	0.557																																					NSCLC(110;1462 1641 3311 33990 49495)											0			16											196	169	178					16																	30522399		2197	4300	6497	30429900	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2728G>A	16.37:g.30522399G>A	ENSP00000349252:p.Asp910Asn		30429900	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420764	0.42918	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.54479	0.57;0.57;0.57	5.0	3.01	0.34805	Integrin alpha-2 (1);	0.114317	0.39407	N	0.001376	T	0.41050	0.1142	L	0.33710	1.025	0.80722	D	1	P;B;B	0.37083	0.581;0.172;0.022	B;B;B	0.40782	0.34;0.252;0.065	T	0.10660	-1.0620	10	0.30078	T	0.28	.	8.2017	0.31428	0.189:0.0:0.811:0.0	.	144;826;910	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	N	910;826;144	ENSP00000349252:D910N;ENSP00000350886:D826N;ENSP00000409377:D144N	ENSP00000349252:D910N	D	+	1	0	ITGAL	30429900	0.875000	0.30112	0.984000	0.44739	0.469000	0.32828	1.058000	0.30504	0.519000	0.28406	0.555000	0.69702	GAC		0.557	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			A	30522399	G	A	30522399	3	1	400	1	0	0	0	0	1	0	0	0	7886	1174	41	2	2822	2	ITGAL	16	30522399	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	28491968	30522399	59832354	102	21985											
RBL2	5934	genome.wustl.edu	37	16	53513102	53513102	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:53513102C>T	ENST00000262133.6	+	18	2877	c.2740C>T	c.(2740-2742)Cgt>Tgt	p.R914C	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	914	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAACATTATGCGTTGTTATAG	0.418																																																0			16											102	95	97					16																	53513102		2198	4300	6498	52070603	SO:0001583	missense	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2740C>T	16.37:g.53513102C>T	ENSP00000262133:p.Arg914Cys		52070603	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193570	0.78902	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.90844	-2.74	5.05	5.05	0.67936	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.075723	0.56097	D	0.000030	D	0.91240	0.7239	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.65443	0.935;0.926	D	0.92806	0.6260	10	0.87932	D	0	-11.9754	16.1796	0.81890	0.0:1.0:0.0:0.0	.	624;914	E9PG04;Q08999	.;RBL2_HUMAN	C	914;624	ENSP00000262133:R914C	ENSP00000262133:R914C	R	+	1	0	RBL2	52070603	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.391000	0.66266	2.338000	0.79540	0.650000	0.86243	CGT		0.418	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		T	53513102	C	T	53513102	3	4	400	1	0	0	0	0	1	0	0	0	13113	768	27	1	2810	1	RBL2	16	53513102	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	22990703	53513102	36841651	103	21986											
CDH5	1003	genome.wustl.edu	37	16	66436859	66436859	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:66436859C>G	ENST00000341529.3	+	12	2290	c.2142C>G	c.(2140-2142)gaC>gaG	p.D714E	CDH5_ENST00000539168.1_Missense_Mutation_p.D153E	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	714					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TGAAGAAGGACGAGGCGGACC	0.682																																																0			16											44	40	42					16																	66436859		2201	4300	6501	64994360	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2142C>G	16.37:g.66436859C>G	ENSP00000344115:p.Asp714Glu		64994360	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480541	0.44044	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.75704	-0.96;-0.96	5.32	-0.377	0.12501	Cadherin, cytoplasmic domain (1);	.	.	.	.	T	0.55784	0.1942	L	0.28608	0.87	0.45415	D	0.998396	P	0.35107	0.484	B	0.39971	0.315	T	0.40813	-0.9543	9	0.15066	T	0.55	.	1.6519	0.02773	0.1349:0.4478:0.124:0.2933	.	714	P33151	CADH5_HUMAN	E	714;599;455;153	ENSP00000344115:D714E;ENSP00000461880:D153E	ENSP00000344115:D714E	D	+	3	2	CDH5	64994360	0.286000	0.24305	0.997000	0.53966	0.972000	0.66771	-0.462000	0.06704	-0.035000	0.13691	0.462000	0.41574	GAC		0.682	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		G	66436859	C	G	66436859	3	3	400	1	0	0	0	0	1	0	0	0	3113	535	19	3	2184	3	CDH5	16	66436859	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	12923757	66436859	23917894	104	21987											
E2F4	1874	genome.wustl.edu	37	16	67226979	67226979	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:67226979G>A	ENST00000379378.3	+	3	372	c.313G>A	c.(313-315)Gag>Aag	p.E105K	EXOC3L1_ENST00000562887.1_5'Flank|E2F4_ENST00000564718.1_3'UTR|EXOC3L1_ENST00000314586.6_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	105	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGCAGAGATCGAGGAGCTGCA	0.597																																																0			16											39	32	35					16																	67226979		2191	4292	6483	65784480	SO:0001583	missense	1874			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.313G>A	16.37:g.67226979G>A	ENSP00000368686:p.Glu105Lys		65784480	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168135	0.78339	.	.	ENSG00000205250	ENST00000379378	D	0.86097	-2.07	4.43	4.43	0.53597	.	0.126669	0.56097	D	0.000036	T	0.79052	0.4381	L	0.43701	1.375	0.53005	D	0.999966	P	0.49253	0.921	B	0.37601	0.254	T	0.81792	-0.0770	10	0.46703	T	0.11	-16.6767	15.7776	0.78236	0.0:0.0:1.0:0.0	.	105	Q16254	E2F4_HUMAN	K	105	ENSP00000368686:E105K	ENSP00000368686:E105K	E	+	1	0	E2F4	65784480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.475000	0.66787	2.299000	0.77371	0.467000	0.42956	GAG		0.597	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		A	67226979	G	A	67226979	3	1	400	1	0	0	0	0	1	0	0	0	4869	1059	37	1	323	1	E2F4	16	67226979	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	790120	67226979	23127774	105	21988											
CDYL2	124359	genome.wustl.edu	37	16	80654773	80654773	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:80654773C>T	ENST00000570137.2	-	4	1049	c.894G>A	c.(892-894)ctG>ctA	p.L298L	CDYL2_ENST00000562812.1_Silent_p.L299L|CDYL2_ENST00000566173.1_Silent_p.L299L|CDYL2_ENST00000563890.1_Silent_p.L299L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	298						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGCTGAGGAGCAGCAGTTTGC	0.562																																																0			16											59	54	56					16																	80654773		2203	4300	6503	79212274	SO:0001819	synonymous_variant	124359			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.894G>A	16.37:g.80654773C>T			79212274	Q7Z5I8	Silent	SNP	ENST00000570137.2	37	CCDS32493.1																																																																																				0.562	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		T	80654773	C	T	80654773	2	4	400	1	0	0	0	0	0	0	0	1	3186	697	25	2		2	CDYL2	16	80654773	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09	13427794	80654773	9699980	106	21989											
CPNE7	27132	genome.wustl.edu	37	16	89643970	89643970	+	Silent	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:89643970G>C	ENST00000268720.5	+	2	328	c.198G>C	c.(196-198)cgG>cgC	p.R66R	CPNE7_ENST00000319518.8_Silent_p.R66R	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	66	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		AGGTGGTCCGGAGCAGCCTGC	0.637																																																0			16											126	75	92					16																	89643970		2142	4196	6338	88171471	SO:0001819	synonymous_variant	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.198G>C	16.37:g.89643970G>C			88171471		Silent	SNP	ENST00000268720.5	37	CCDS10980.1																																																																																				0.637	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			C	89643970	G	C	89643970	2	2	400	1	0	0	0	0	0	0	0	1	3817	1161	41	3		3	CPNE7	16	89643970	Silent	SNP	G	TCGA-42-2587-01A-01D-1526-09	8989197	89643970	710783	107	21990											
TRPV3	162514	genome.wustl.edu	37	17	3446831	3446831	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:3446831A>T	ENST00000576742.1	-	5	724	c.403T>A	c.(403-405)Ttg>Atg	p.L135M	TRPV3_ENST00000301365.4_Missense_Mutation_p.L135M|TRPV3_ENST00000572519.1_Missense_Mutation_p.L135M	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	135					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AACTCTACCAACTCCTCCACG	0.607																																																0			17											119	114	116					17																	3446831		2203	4300	6503	3393581	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.403T>A	17.37:g.3446831A>T	ENSP00000461518:p.Leu135Met		3393581	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198162	0.58126	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T;T	0.76709	-1.04;-0.27	5.2	0.867	0.19085	Ankyrin repeat-containing domain (3);	0.226096	0.29692	N	0.011448	D	0.83640	0.5298	M	0.74647	2.275	0.32077	N	0.593601	P;D;D;D;D;D;D	0.89917	0.95;0.986;1.0;0.986;0.999;1.0;1.0	P;P;D;P;D;D;D	0.91635	0.776;0.869;0.999;0.869;0.997;0.999;0.998	T	0.81382	-0.0958	10	0.59425	D	0.04	-6.1466	5.7264	0.18015	0.3049:0.1305:0.5646:0.0	.	119;119;135;119;135;135;135	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	M	135;135;119	ENSP00000371338:L135M;ENSP00000301365:L135M	ENSP00000301365:L135M	L	-	1	2	TRPV3	3393581	0.956000	0.32656	0.995000	0.50966	0.777000	0.43975	0.108000	0.15396	0.026000	0.15269	-0.330000	0.08379	TTG		0.607	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		T	3446831	A	T	3446831	3	4	400	1	0	0	0	0	1	0	0	0	16597	40	2	5	2025	5	TRPV3	17	3446831	Missense_Mutation	SNP	A	TCGA-42-2587-01A-01D-1526-09		3446831	77748379	108	21991											
TP53	7157	genome.wustl.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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"	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	17	GRCh37	CM034930	TP53	M							132	103	113					17																	7577568		2203	4300	6503	7518293	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.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr		7518293	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577568	C	T	7577568	3	4	400	1	0	0	0	0	1	0	0	0	16381	478	17	2	577	2	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	4130737	7577568	73617642	109	21992											
MYH4	4622	genome.wustl.edu	37	17	10368836	10368836	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:10368836T>A	ENST00000255381.2	-	5	538	c.428A>T	c.(427-429)tAc>tTc	p.Y143F	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	143	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTGCCTCGGTAGGCTGTCAC	0.542																																																0			17											132	136	135					17																	10368836		2203	4300	6503	10309561	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.428A>T	17.37:g.10368836T>A	ENSP00000255381:p.Tyr143Phe		10309561		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239052	0.79800	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	T	0.81247	-1.47	4.95	4.95	0.65309	Myosin head, motor domain (2);	0.000000	0.32533	U	0.005968	D	0.90988	0.7166	M	0.90870	3.155	0.80722	D	1	P	0.35600	0.511	P	0.54544	0.755	D	0.92380	0.5912	10	0.87932	D	0	.	15.0618	0.71961	0.0:0.0:0.0:1.0	.	143	Q9Y623	MYH4_HUMAN	F	143	ENSP00000255381:Y143F	ENSP00000431873:Y143F	Y	-	2	0	MYH2;MYH4	10309561	1.000000	0.71417	0.974000	0.42286	0.403000	0.30841	7.767000	0.85331	2.202000	0.70862	0.528000	0.53228	TAC		0.542	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10368836	T	A	10368836	3	1	400	1	0	0	0	0	1	0	0	0	10037	1638	57	5	5535	5	MYH4	17	10368836	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	2791268	10368836	70826374	110	21993											
SUPT6H	6830	genome.wustl.edu	37	17	27003401	27003401	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:27003401G>T	ENST00000314616.6	+	7	1133	c.850G>T	c.(850-852)Gat>Tat	p.D284Y	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D284Y	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	284	Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCACCTCACAGATCAGGACAA	0.507																																																0			17											84	80	81					17																	27003401		2203	4300	6503	24027528	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.850G>T	17.37:g.27003401G>T	ENSP00000319104:p.Asp284Tyr		24027528	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676474	0.88445	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.86268	0.1659	9	0.87932	D	0	-21.4486	19.1693	0.93570	0.0:0.0:1.0:0.0	.	284	Q7KZ85	SPT6H_HUMAN	Y	284	.	ENSP00000319104:D284Y	D	+	1	0	SUPT6H	24027528	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.159000	0.94728	2.625000	0.88918	0.655000	0.94253	GAT		0.507	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		T	27003401	G	T	27003401	3	4	400	1	0	0	0	0	1	0	0	0	15400	942	33	3	872	3	SUPT6H	17	27003401	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	16634565	27003401	54191809	111	21994											
CRYBA1	1411	genome.wustl.edu	37	17	27577316	27577316	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:27577316C>T	ENST00000225387.3	+	3	214	c.213C>T	c.(211-213)ggC>ggT	p.G71G		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	71	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGGAAAGTGGCGCGTGAGTAT	0.537																																																0			17											115	109	111					17																	27577316		2203	4300	6503	24601442	SO:0001819	synonymous_variant	1411				CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"eye lens structural protein"	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.213C>T	17.37:g.27577316C>T			24601442	Q13633|Q14CM9	Silent	SNP	ENST00000225387.3	37	CCDS11249.1																																																																																				0.537	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208		T	27577316	C	T	27577316	2	4	400	1	0	0	0	0	0	0	0	1	3907	755	27	1		1	CRYBA1	17	27577316	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09	573915	27577316	53617894	112	21995											
KCNH4	23415	genome.wustl.edu	37	17	40330944	40330944	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:40330944C>T	ENST00000264661.3	-	2	509	c.177G>A	c.(175-177)gaG>gaA	p.E59E	KCNH4_ENST00000607371.1_Silent_p.E59E	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	59	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTGCATGACCTCGGTGCGAC	0.637																																					NSCLC(117;707 1703 2300 21308 31858)											0			17											60	55	56					17																	40330944		2203	4300	6503	37584470	SO:0001819	synonymous_variant	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.177G>A	17.37:g.40330944C>T			37584470		Silent	SNP	ENST00000264661.3	37	CCDS11420.1																																																																																				0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		T	40330944	C	T	40330944	2	4	400	1	0	0	0	0	0	0	0	1	8034	680	24	2		2	KCNH4	17	40330944	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09	12753628	40330944	40864266	113	21996											
MFSD11	79157	genome.wustl.edu	37	17	74774279	74774279	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:74774279G>A	ENST00000588460.1	+	13	3237	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	MFSD11_ENST00000355954.3_Missense_Mutation_p.A347T|MFSD11_ENST00000586622.1_Missense_Mutation_p.A399T|MFSD11_ENST00000336509.4_Missense_Mutation_p.A399T|MFSD11_ENST00000590514.1_Missense_Mutation_p.A399T|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000593181.1_Missense_Mutation_p.A347T	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	399						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GTCTATTTGCGCAGCCGTGGC	0.493																																																0			17											163	148	153					17																	74774279		2203	4300	6503	72285874	SO:0001583	missense	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1195G>A	17.37:g.74774279G>A	ENSP00000464932:p.Ala399Thr		72285874	O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000588460.1	37	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	G	37	6.093075	0.97276	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	D;D	0.81739	-1.53;-1.53	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	D	0.86531	0.1822	10	0.44086	T	0.13	-20.4795	20.2544	0.98414	0.0:0.0:1.0:0.0	.	347;399	O43934-2;O43934	.;MFS11_HUMAN	T	399;347	ENSP00000337240:A399T;ENSP00000348225:A347T	ENSP00000337240:A399T	A	+	1	0	MFSD11	72285874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.885000	0.99019	0.655000	0.94253	GCA		0.493	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		A	74774279	G	A	74774279	3	1	400	1	0	0	0	0	1	0	0	0	9529	1087	38	1	1245	1	MFSD11	17	74774279	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	34443335	74774279	6420931	114	21997											
LGALS3BP	3959	genome.wustl.edu	37	17	76967999	76967999	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:76967999C>T	ENST00000262776.3	-	6	1725	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	473					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACCCTCTTGTCCTGGAAGAGG	0.567											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)											0			17											71	62	65					17																	76967999		2203	4300	6503	74479594	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1417G>A	17.37:g.76967999C>T	ENSP00000262776:p.Asp473Asn	1172	74479594	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	C	8.760	0.923261	0.18056	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.01438	4.89	3.25	-1.47	0.08772	.	0.907418	0.09081	N	0.851266	T	0.01287	0.0042	L	0.35854	1.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47249	-0.9132	10	0.38643	T	0.18	-5.9578	2.6756	0.05080	0.2126:0.3713:0.0:0.4161	.	473	Q08380	LG3BP_HUMAN	N	473;461	ENSP00000262776:D473N	ENSP00000262776:D473N	D	-	1	0	LGALS3BP	74479594	0.000000	0.05858	0.001000	0.08648	0.945000	0.59286	-0.462000	0.06704	-0.242000	0.09667	0.561000	0.74099	GAC		0.567	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		T	76967999	C	T	76967999	3	4	400	1	0	0	0	0	1	0	0	0	8744	855	30	2	344	2	LGALS3BP	17	76967999	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	2193720	76967999	4227211	115	21998											
PTPRM	5797	genome.wustl.edu	37	18	7888115	7888115	+	Missense_Mutation	SNP	C	C	G	rs113099035	byFrequency	TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr18:7888115C>G	ENST00000332175.8	+	3	1245	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V	PTPRM_ENST00000580170.1_Missense_Mutation_p.L70V|PTPRM_ENST00000400053.4_Missense_Mutation_p.L8V|PTPRM_ENST00000400060.4_Missense_Mutation_p.L70V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	70	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTCTTTCATGCTGGTGAATGC	0.453																																																0			18											191	200	197					18																	7888115		2203	4300	6503	7878115	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.208C>G	18.37:g.7888115C>G	ENSP00000331418:p.Leu70Val		7878115	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867131	0.32977	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02085	4.46;4.46;4.46	5.73	-0.282	0.12878	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.340181	0.29389	N	0.012286	T	0.01156	0.0038	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.56341	-0.7995	10	0.42905	T	0.14	.	3.7572	0.08589	0.4471:0.3172:0.0:0.2357	.	70;70	A7MBN1;P28827	.;PTPRM_HUMAN	V	70;70;8	ENSP00000331418:L70V;ENSP00000382933:L70V;ENSP00000382927:L8V	ENSP00000331418:L70V	L	+	1	2	PTPRM	7878115	0.975000	0.34042	0.998000	0.56505	0.993000	0.82548	0.125000	0.15749	-0.028000	0.13850	0.655000	0.94253	CTG		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			G	7888115	C	G	7888115	3	3	400	1	0	0	0	0	1	0	0	0	12809	796	28	3	218	3	PTPRM	18	7888115	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09		7888115	70189133	116	21999											
LAMA3	3909	genome.wustl.edu	37	18	21494780	21494780	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr18:21494780G>A	ENST00000313654.9	+	58	7841	c.7600G>A	c.(7600-7602)Gaa>Aaa	p.E2534K	LAMA3_ENST00000587184.1_Missense_Mutation_p.E869K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2478K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E925K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2534	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTTGGATCCTGAAAATGTTGT	0.333																																																0			18											74	73	73					18																	21494780		2203	4300	6503	19748778	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7600G>A	18.37:g.21494780G>A	ENSP00000324532:p.Glu2534Lys		19748778	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238867	0.58995	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.63096	-0.02;-0.02;-0.02	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.75774	0.3895	M	0.70595	2.14	0.35010	D	0.756804	D;D;P;D	0.76494	0.999;0.999;0.947;0.992	D;D;P;D	0.85130	0.996;0.997;0.801;0.913	T	0.80063	-0.1539	9	0.37606	T	0.19	.	12.068	0.53598	0.0901:0.0:0.9099:0.0	.	869;925;2478;2534	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	K	2534;2478;925	ENSP00000324532:E2534K;ENSP00000382432:E2478K;ENSP00000269217:E925K	ENSP00000269217:E925K	E	+	1	0	LAMA3	19748778	0.978000	0.34361	0.998000	0.56505	0.591000	0.36615	1.826000	0.39092	2.513000	0.84729	0.561000	0.74099	GAA		0.333	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21494780	G	A	21494780	3	1	400	1	0	0	0	0	1	0	0	0	8607	1291	45	2	8005	2	LAMA3	18	21494780	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	13606665	21494780	56582468	117	22000											
KLF16	83855	genome.wustl.edu	37	19	1854633	1854633	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:1854633C>T	ENST00000250916.4	-	2	654	c.584G>A	c.(583-585)cGc>cAc	p.R195H	CTB-31O20.6_ENST00000592884.1_RNA|KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	195					dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGTGAAGCGCTTGGAGCA	0.721																																																0			19											30	36	34					19																	1854633		2201	4298	6499	1805633	SO:0001583	missense	83855			AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.584G>A	19.37:g.1854633C>T	ENSP00000250916:p.Arg195His		1805633		Missense_Mutation	SNP	ENST00000250916.4	37	CCDS12075.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738844	0.89573	.	.	ENSG00000129911	ENST00000250916;ENST00000541015	T;T	0.19938	2.11;2.11	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39358	0.1075	L	0.60957	1.885	0.38985	D	0.959032	D	0.76494	0.999	D	0.69142	0.962	T	0.41627	-0.9498	9	0.87932	D	0	.	12.2072	0.54358	0.0:1.0:0.0:0.0	.	195	Q9BXK1	KLF16_HUMAN	H	195	ENSP00000250916:R195H;ENSP00000439973:R195H	ENSP00000250916:R195H	R	-	2	0	KLF16	1805633	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.479000	0.81095	1.703000	0.51240	0.478000	0.44815	CGC		0.721	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449214.1			T	1854633	C	T	1854633	3	4	400	1	0	0	0	0	1	0	0	0	8344	768	27	1	178	1	KLF16	19	1854633	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09		1854633	57274350	118	22001											
SF4	57794	genome.wustl.edu	37	19	19414218	19414218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:19414218G>T	ENST00000247001.5	-	6	1049	c.702C>A	c.(700-702)taC>taA	p.Y234*	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	234					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCTTCTTCCTGTAGTAGAGGA	0.502																																																0			19											150	138	142					19																	19414218		2203	4300	6503	19275218	SO:0001587	stop_gained	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.702C>A	19.37:g.19414218G>T	ENSP00000247001:p.Tyr234*		19275218	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Nonsense_Mutation	SNP	ENST00000247001.5	37	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307128	0.81247	.	.	ENSG00000105705	ENST00000247001	.	.	.	5.02	2.87	0.33458	.	0.133646	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8	0.34903	0.1787:0.0:0.8213:0.0	.	.	.	.	X	234	.	ENSP00000247001:Y234X	Y	-	3	2	SUGP1	19275218	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.182000	0.50910	0.535000	0.28714	-0.140000	0.14226	TAC		0.502	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		T	19414218	G	T	19414218	4	4	400	1	0	0	0	0	0	1	0	0	14158	1372	48	3	1271	3	SF4	19	19414218	Nonsense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	17559585	19414218	39714765	119	22002											
RYR1	6261	genome.wustl.edu	37	19	38968433	38968433	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:38968433C>T	ENST00000359596.3	+	30	4377	c.4377C>T	c.(4375-4377)caC>caT	p.H1459H	RYR1_ENST00000355481.4_Silent_p.H1459H|RYR1_ENST00000360985.3_Silent_p.H1459H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1459	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCATCAGCACGACATGAGCT	0.627																																																0			19											72	57	62					19																	38968433		2203	4300	6503	43660273	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4377C>T	19.37:g.38968433C>T			43660273	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38968433	C	T	38968433	2	4	400	1	0	0	0	0	0	0	0	1	13771	535	19	1		1	RYR1	19	38968433	Silent	SNP	C	TCGA-42-2587-01A-01D-1526-09	19554215	38968433	20160550	120	22003											
IL28A	282616	genome.wustl.edu	37	19	39760395	39760395	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:39760395G>A	ENST00000331982.5	+	5	493	c.438G>A	c.(436-438)acG>acA	p.T146T		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	146					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CTCAGCCCACGGCAGGGCCCA	0.677																																																0			19											15	22	20					19																	39760395		2182	4279	6461	44452235	SO:0001819	synonymous_variant	282616			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.438G>A	19.37:g.39760395G>A			44452235	Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	CCDS42567.1																																																																																				0.677	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		A	39760395	G	A	39760395	2	1	400	1	0	0	0	0	0	0	0	1	7682	1103	39	1		1	IL28A	19	39760395	Silent	SNP	G	TCGA-42-2587-01A-01D-1526-09	791962	39760395	19368588	121	22004											
CEACAM19	56971	genome.wustl.edu	37	19	45184572	45184572	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:45184572A>G	ENST00000403660.3	+	6	990	c.780A>G	c.(778-780)atA>atG	p.I260M	CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000358777.4_Missense_Mutation_p.I260M			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	260						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CAAGGTCCATAAACCCAGCCC	0.587																																																0			19											91	74	80					19																	45184572		2203	4300	6503	49876412	SO:0001583	missense	56971			AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"Immunoglobulin superfamily / V-set domain containing"	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.780A>G	19.37:g.45184572A>G	ENSP00000384887:p.Ile260Met		49876412	Q5XJ15|Q7Z693	Missense_Mutation	SNP	ENST00000403660.3	37	CCDS12641.1	.	.	.	.	.	.	.	.	.	.	A	3.593	-0.083140	0.07141	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.02421	4.3;4.3	3.22	-0.307	0.12777	.	4.592180	0.00777	N	0.001243	T	0.01695	0.0054	N	0.02916	-0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.42865	-0.9426	10	0.34782	T	0.22	-0.0015	5.3279	0.15917	0.4364:0.0:0.5636:0.0	.	260;260	Q5XJ15;Q7Z692	.;CEA19_HUMAN	M	260	ENSP00000351627:I260M;ENSP00000384887:I260M	ENSP00000351627:I260M	I	+	3	3	CEACAM19	49876412	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.168000	0.09925	-0.083000	0.12618	-0.395000	0.06472	ATA		0.587	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323022.1	NM_020219		G	45184572	A	G	45184572	3	3	400	1	0	0	0	0	1	0	0	0	3190	352	13	4	802	4	CEACAM19	19	45184572	Missense_Mutation	SNP	A	TCGA-42-2587-01A-01D-1526-09	5424177	45184572	13944411	122	22005											
GEMIN7	79760	genome.wustl.edu	37	19	45593512	45593512	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:45593512C>G	ENST00000270257.4	+	3	387	c.140C>G	c.(139-141)gCt>gGt	p.A47G	GEMIN7_ENST00000591607.1_Missense_Mutation_p.A47G|GEMIN7_ENST00000591747.1_Missense_Mutation_p.A47G|GEMIN7_ENST00000391951.2_Missense_Mutation_p.A47G|CTB-179K24.3_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA|PPP1R37_ENST00000221462.4_5'Flank|PPP1R37_ENST00000421905.1_5'Flank	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	47					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TGTCCCATAGCTCAAGAATCC	0.642																																																0			19											46	46	46					19																	45593512		2203	4300	6503	50285352	SO:0001583	missense	79760			AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.140C>G	19.37:g.45593512C>G	ENSP00000270257:p.Ala47Gly		50285352	Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462578	0.26248	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	3.77	-7.55	0.01327	.	1.380780	0.04860	N	0.444000	T	0.16685	0.0401	N	0.19112	0.55	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.12785	-1.0534	9	0.23891	T	0.37	-16.5092	2.1523	0.03803	0.1258:0.2632:0.3817:0.2292	.	47	Q9H840	GEMI7_HUMAN	G	47	.	ENSP00000270257:A47G	A	+	2	0	GEMIN7	50285352	0.000000	0.05858	0.000000	0.03702	0.512000	0.34134	-1.261000	0.02855	-1.628000	0.01548	-0.266000	0.10368	GCT		0.642	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			G	45593512	C	G	45593512	3	3	400	1	0	0	0	0	1	0	0	0	6333	797	28	3	142	3	GEMIN7	19	45593512	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	408940	45593512	13535471	123	22006											
ZNF816A	125893	genome.wustl.edu	37	19	53454173	53454173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:53454173G>T	ENST00000357666.4	-	5	1155	c.855C>A	c.(853-855)taC>taA	p.Y285*	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Nonsense_Mutation_p.Y285*	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	285					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CATTACACTTGTAAGTTTTCT	0.383																																																0			19											151	140	143					19																	53454173		2203	4300	6503	58145985	SO:0001587	stop_gained	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.855C>A	19.37:g.53454173G>T	ENSP00000350295:p.Tyr285*		58145985	A8K7H5|Q3KR39|Q659B3	Nonsense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	13.55	2.270366	0.40194	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	.	.	.	1.79	0.704	0.18121	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4972	0.27496	0.1677:0.0:0.8323:0.0	.	.	.	.	X	285	.	ENSP00000350295:Y285X	Y	-	3	2	ZNF816	58145985	0.000000	0.05858	0.653000	0.29593	0.047000	0.14425	-0.815000	0.04481	0.965000	0.38133	0.205000	0.17691	TAC		0.383	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		T	53454173	G	T	53454173	4	4	400	1	0	0	0	0	0	1	0	0	18177	1372	48	3	1104	3	ZNF816A	19	53454173	Nonsense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	7860661	53454173	5674810	124	22007											
ZNF471	57573	genome.wustl.edu	37	19	57036523	57036523	+	Missense_Mutation	SNP	C	C	G	rs201149317		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:57036523C>G	ENST00000308031.5	+	5	1220	c.1087C>G	c.(1087-1089)Cgt>Ggt	p.R363G	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.F222L	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	363					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.R363C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATCTTTTATTCGTCACTGGAG	0.413																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											1	Substitution - Missense(1)	skin(1)	19											75	80	78					19																	57036523		2203	4300	6503	61728335	SO:0001583	missense	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1087C>G	19.37:g.57036523C>G	ENSP00000309161:p.Arg363Gly		61728335	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816477	0.32145	.	.	ENSG00000196263	ENST00000308031	T	0.26660	1.72	3.63	-2.85	0.05734	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24624	0.0597	M	0.77406	2.37	0.09310	N	1	D	0.53462	0.96	B	0.42422	0.387	T	0.24693	-1.0153	9	0.31617	T	0.26	.	4.9008	0.13773	0.0:0.3576:0.1591:0.4833	.	363	Q9BX82	ZN471_HUMAN	G	363	ENSP00000309161:R363G	ENSP00000309161:R363G	R	+	1	0	ZNF471	61728335	0.000000	0.05858	0.001000	0.08648	0.971000	0.66376	-1.745000	0.01831	-0.124000	0.11724	0.462000	0.41574	CGT		0.413	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		G	57036523	C	G	57036523	3	3	400	1	0	0	0	0	1	0	0	0	17930	884	31	3	1101	3	ZNF471	19	57036523	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	3582350	57036523	2092460	125	22008											
C20orf141	128653	genome.wustl.edu	37	20	2796199	2796199	+	Silent	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr20:2796199T>A	ENST00000380589.4	+	2	450	c.276T>A	c.(274-276)acT>acA	p.T92T	TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000380585.1_5'Flank|C20orf141_ENST00000603872.1_Silent_p.T92T|TMEM239_ENST00000554164.1_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	92	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						CAGGTCACACTCTGCCACAGC	0.632																																																0			20											38	35	36					20																	2796199		2203	4300	6503	2744199	SO:0001819	synonymous_variant	128653				CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.276T>A	20.37:g.2796199T>A			2744199		Silent	SNP	ENST00000380589.4	37	CCDS13034.1																																																																																				0.632	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2	NM_080739		A	2796199	T	A	2796199	2	1	400	1	0	0	0	0	0	0	0	1	2089	1538	54	5		5	C20orf141	20	2796199	Silent	SNP	T	TCGA-42-2587-01A-01D-1526-09		2796199	60229321	126	22009											
MCM8	84515	genome.wustl.edu	37	20	5943981	5943981	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr20:5943981T>G	ENST00000378896.3	+	8	1228	c.851T>G	c.(850-852)gTt>gGt	p.V284G	Y_RNA_ENST00000384650.1_RNA|MCM8_ENST00000378886.2_Missense_Mutation_p.V284G|MCM8_ENST00000265187.4_Missense_Mutation_p.V284G|MCM8_ENST00000378883.1_Missense_Mutation_p.V284G	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	284					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCTCTCACAGTTACGATGGAC	0.413																																																0			20											128	112	118					20																	5943981		2203	4300	6503	5891981	SO:0001583	missense	84515			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.851T>G	20.37:g.5943981T>G	ENSP00000368174:p.Val284Gly		5891981	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	T	1.004	-0.690146	0.03303	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	4.74	4.74	0.60224	Nucleic acid-binding, OB-fold-like (1);	0.315432	0.31301	N	0.007888	T	0.07007	0.0178	M	0.67569	2.06	0.22017	N	0.999417	B;B;B;B	0.25955	0.005;0.138;0.001;0.005	B;B;B;B	0.25987	0.008;0.065;0.008;0.005	T	0.23619	-1.0183	10	0.25106	T	0.35	-18.9289	9.5061	0.39048	0.0:0.0915:0.0:0.9085	.	284;284;284;284	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	G	284	ENSP00000368174:V284G;ENSP00000368161:V284G;ENSP00000368164:V284G;ENSP00000265187:V284G	ENSP00000265187:V284G	V	+	2	0	MCM8	5891981	0.905000	0.30787	0.580000	0.28601	0.031000	0.12232	3.136000	0.50554	1.878000	0.54408	0.528000	0.53228	GTT		0.413	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		G	5943981	T	G	5943981	3	3	400	1	0	0	0	0	1	0	0	0	9393	1725	60	5	877	5	MCM8	20	5943981	Missense_Mutation	SNP	T	TCGA-42-2587-01A-01D-1526-09	3147782	5943981	57081539	127	22010											
DHRSX	207063	genome.wustl.edu	37	X	2161118	2161118	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chrX:2161118G>C	ENST00000334651.5	-	6	802	c.750C>G	c.(748-750)caC>caG	p.H250Q		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	250							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCAGAACACGTGCTTGTAGA	0.607																																																0			X											111	104	107					X																	2161118		2203	4296	6499	2171118	SO:0001583	missense	207063			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.750C>G	X.37:g.2161118G>C	ENSP00000334113:p.His250Gln		2171118	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	a	8.973	0.973317	0.18736	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	T;T	0.21361	2.01;2.01	1.45	0.348	0.16026	NAD(P)-binding domain (1);	0.747943	0.11788	U	0.529443	T	0.39963	0.1098	M	0.81802	2.56	0.09310	N	0.999999	D	0.71674	0.998	D	0.64506	0.926	T	0.14008	-1.0488	10	0.87932	D	0	.	5.1507	0.15007	0.6069:0.0:0.3931:0.0	.	250	Q8N5I4	DHRSX_HUMAN	Q	250;227	ENSP00000334113:H250Q;ENSP00000391778:H227Q	ENSP00000334113:H250Q	H	-	3	2	DHRSX	2171118	1.000000	0.71417	0.393000	0.26258	0.225000	0.24961	0.730000	0.26043	0.430000	0.26230	0.054000	0.15206	CAC		0.607	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		C	2161118	G	C	2161118	3	2	400	1	0	0	0	0	1	0	0	0	4499	1136	40	3	250	3	DHRSX	23	2161118	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09		2161118	153109442	128	22011											
MAGEB6	158809	genome.wustl.edu	37	X	26212169	26212169	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chrX:26212169C>T	ENST00000379034.1	+	2	355	c.206C>T	c.(205-207)cCc>cTc	p.P69L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	69	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGAGTGTCACCCACTGGGTCT	0.527																																																0			X											105	94	98					X																	26212169		2202	4300	6502	26122090	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.206C>T	X.37:g.26212169C>T	ENSP00000368320:p.Pro69Leu		26122090	Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667779	0.14710	.	.	ENSG00000176746	ENST00000379034	T	0.03951	3.75	1.41	-2.51	0.06365	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.03915	0.0110	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44817	-0.9303	9	0.25106	T	0.35	.	2.7767	0.05349	0.0:0.3609:0.2479:0.3912	.	69	Q8N7X4	MAGB6_HUMAN	L	69	ENSP00000368320:P69L	ENSP00000368320:P69L	P	+	2	0	MAGEB6	26122090	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.939000	0.03933	-0.995000	0.03459	-1.602000	0.00811	CCC		0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		T	26212169	C	T	26212169	3	4	400	1	0	0	0	0	1	0	0	0	9179	623	22	2	208	2	MAGEB6	23	26212169	Missense_Mutation	SNP	C	TCGA-42-2587-01A-01D-1526-09	24051051	26212169	129058391	129	22012											
NYX	60506	genome.wustl.edu	37	X	41334057	41334057	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chrX:41334057G>T	ENST00000342595.2	+	2	1807	c.1351G>T	c.(1351-1353)Gtg>Ttg	p.V451L	NYX_ENST00000378220.1_Missense_Mutation_p.V451L	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	451					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTCCCGTGGGGTGGGAGGCGC	0.706																																																0			X											8	9	8					X																	41334057		2056	4042	6098	41219001	SO:0001583	missense	60506			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1351G>T	X.37:g.41334057G>T	ENSP00000340328:p.Val451Leu		41219001	D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	G	1.730	-0.494459	0.04322	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.59083	0.29;0.29	5.24	-1.21	0.09524	.	1.062510	0.07374	N	0.886260	T	0.26810	0.0656	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11203	-1.0597	10	0.22109	T	0.4	.	2.0267	0.03520	0.2218:0.4003:0.238:0.1398	.	451	Q9GZU5	NYX_HUMAN	L	451	ENSP00000340328:V451L;ENSP00000367465:V451L	ENSP00000340328:V451L	V	+	1	0	NYX	41219001	0.011000	0.17503	0.000000	0.03702	0.021000	0.10359	0.283000	0.18846	-0.360000	0.08138	-0.988000	0.02552	GTG		0.706	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		T	41334057	G	T	41334057	3	4	400	1	0	0	0	0	1	0	0	0	10797	1261	44	3	1357	3	NYX	23	41334057	Missense_Mutation	SNP	G	TCGA-42-2587-01A-01D-1526-09	15121888	41334057	113936503	130	22013											
ZNF642	339559	genome.wustl.edu	37	1	40960830	40960830	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr1:40960830G>T	ENST00000372706.1	+	6	1686	c.680G>T	c.(679-681)gGg>gTg	p.G227V	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.G227V			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AACAAATTTGGGGAAAATATC	0.348																																																0			1											64	64	64					1																	40960830		2203	4299	6502	40733417	SO:0001583	missense	339559			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.680G>T	1.37:g.40960830G>T	ENSP00000361791:p.Gly227Val		40733417	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	G	1.782	-0.481629	0.04383	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.05199	3.48;3.48	4.44	0.114	0.14639	.	0.728966	0.11858	N	0.522647	T	0.08358	0.0208	M	0.75150	2.29	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.29610	-1.0006	10	0.54805	T	0.06	0.1446	4.5359	0.12028	0.1844:0.0:0.2842:0.5314	.	227	Q49AA0	ZN642_HUMAN	V	227	ENSP00000361791:G227V;ENSP00000361790:G227V	ENSP00000361790:G227V	G	+	2	0	ZNF642	40733417	0.834000	0.29399	0.060000	0.19600	0.068000	0.16541	0.698000	0.25571	0.034000	0.15491	-0.311000	0.09066	GGG		0.348	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		T	40960830	G	T	40960830	3	4	401	1	0	0	0	0	1	0	0	0	18058	1232	43	3	698	3	ZNF642	1	40960830	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09		40960830	208289791	1	22014											
BRP44	25874	genome.wustl.edu	37	1	167889285	167889285	+	Silent	SNP	A	A	G	rs537213051		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr1:167889285A>G	ENST00000367846.4	-	4	477	c.279T>C	c.(277-279)aaT>aaC	p.N93N	MPC2_ENST00000271373.4_Silent_p.N93N	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	93					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)										ACAGACTCCAATTTTTTGGAA	0.348													A|||	1	0.000199681	0	0	5008	,	,		16125	0		0	False		,,,				2504	0.001															0			1											75	89	84					1																	167889285		2203	4300	6503	166155909	SO:0001819	synonymous_variant	25874				CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"brain protein 44"	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.279T>C	1.37:g.167889285A>G			166155909	A8K261|Q3SXR6|Q6FIF3	Silent	SNP	ENST00000367846.4	37	CCDS1266.1																																																																																				0.348	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083652.1	NM_015415		G	167889285	A	G	167889285	2	3	401	1	0	0	0	0	0	0	0	1	1518	98	4	4		4	BRP44	1	167889285	Silent	SNP	A	TCGA-42-2588-01A-01D-1526-09	126928455	167889285	81361336	2	22015											
MYOC	4653	genome.wustl.edu	37	1	171605738	171605738	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr1:171605738G>T	ENST00000037502.6	-	3	913	c.842C>A	c.(841-843)aCc>aAc	p.T281N		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	281	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGTCTCCTGGGTGTAGGGGTA	0.532																																																0			1											89	86	87					1																	171605738		2203	4300	6503	169872361	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.842C>A	1.37:g.171605738G>T	ENSP00000037502:p.Thr281Asn		169872361	B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808958	0.31961	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.88818	-2.43	5.76	5.76	0.90799	Olfactomedin-like (3);	0.136777	0.64402	D	0.000003	D	0.91243	0.7240	L	0.52759	1.655	0.40562	D	0.981221	D;D	0.76494	0.998;0.999	D;D	0.72625	0.939;0.978	D	0.88946	0.3383	10	0.31617	T	0.26	.	18.5426	0.91035	0.0:0.0:1.0:0.0	.	223;281	B4DV44;Q99972	.;MYOC_HUMAN	N	281;234;214;281	ENSP00000037502:T281N	ENSP00000037502:T281N	T	-	2	0	MYOC	169872361	1.000000	0.71417	0.742000	0.31022	0.779000	0.44077	3.350000	0.52224	2.719000	0.93026	0.555000	0.69702	ACC		0.532	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		T	171605738	G	T	171605738	3	4	401	1	0	0	0	0	1	0	0	0	10086	1261	44	3	676	3	MYOC	1	171605738	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09	3716453	171605738	77644883	3	22016											
HHIPL2	79802	genome.wustl.edu	37	1	222717104	222717104	+	Missense_Mutation	SNP	C	C	T	rs147794680		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr1:222717104C>T	ENST00000343410.6	-	2	807	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	250					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R250H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTGCTCCAGGCGACTCCCATC	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		17632	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	lung(1)	1						C	HIS/ARG	0,4406		0,0,2203	91	85	87		749	4.4	1	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	HHIPL2	NM_024746.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	250/725	222717104	1,13005	2203	4300	6503	220783727	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.749G>A	1.37:g.222717104C>T	ENSP00000342118:p.Arg250His		220783727	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.9	4.061016	0.76074	0.0	1.16E-4	ENSG00000143512	ENST00000343410	T	0.11930	2.73	5.31	4.4	0.53042	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.055311	0.64402	D	0.000001	T	0.36663	0.0975	M	0.73962	2.25	0.50813	D	0.999898	D	0.89917	1.0	D	0.83275	0.996	T	0.13282	-1.0515	10	0.51188	T	0.08	-18.9971	13.5661	0.61819	0.0:0.9239:0.0:0.0761	.	250	Q6UWX4	HIPL2_HUMAN	H	250	ENSP00000342118:R250H	ENSP00000342118:R250H	R	-	2	0	HHIPL2	220783727	0.992000	0.36948	0.995000	0.50966	0.822000	0.46500	4.586000	0.60984	1.224000	0.43551	0.467000	0.42956	CGC		0.582	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		T	222717104	C	T	222717104	3	4	401	1	0	0	0	0	1	0	0	0	7094	768	27	1	1457	1	HHIPL2	1	222717104	Missense_Mutation	SNP	C	TCGA-42-2588-01A-01D-1526-09	51111366	222717104	26533517	4	22017											
ANKZF1	55139	genome.wustl.edu	37	2	220099649	220099649	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr2:220099649C>T	ENST00000323348.5	+	10	1480	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	ANKZF1_ENST00000409849.1_Missense_Mutation_p.R226W|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R436W|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	436						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGCCCAAGCGGAGGAGGAG	0.522																																																0			2											58	66	63					2																	220099649		2121	4246	6367	219807893	SO:0001583	missense	55139			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1306C>T	2.37:g.220099649C>T	ENSP00000321617:p.Arg436Trp		219807893	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487629	0.44249	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.29917	1.55;1.76;1.55	5.41	1.18	0.20946	.	0.211812	0.46758	D	0.000267	T	0.37210	0.0995	L	0.43152	1.355	0.40445	D	0.980087	D	0.76494	0.999	P	0.54889	0.763	T	0.31223	-0.9951	10	0.62326	D	0.03	-7.2357	13.2435	0.60010	0.5503:0.4497:0.0:0.0	.	436	Q9H8Y5	ANKZ1_HUMAN	W	436;226;436	ENSP00000321617:R436W;ENSP00000386815:R226W;ENSP00000386337:R436W	ENSP00000321617:R436W	R	+	1	2	ANKZF1	219807893	0.937000	0.31787	0.838000	0.33150	0.420000	0.31355	0.599000	0.24089	0.340000	0.23745	-0.293000	0.09583	CGG		0.522	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		T	220099649	C	T	220099649	3	4	401	1	0	0	0	0	1	0	0	0	693	759	27	1	1340	1	ANKZF1	2	220099649	Missense_Mutation	SNP	C	TCGA-42-2588-01A-01D-1526-09		220099649	23099724	5	22018											
TMEM45A	55076	genome.wustl.edu	37	3	100274161	100274161	+	Silent	SNP	C	C	A	rs201699180		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr3:100274161C>A	ENST00000323523.4	+	2	419	c.106C>A	c.(106-108)Cga>Aga	p.R36R	TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000403410.1_Silent_p.R52R	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	36						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AAAGCAAAAGCGAACCTGCTA	0.388																																																0			3											182	186	185					3																	100274161		2203	4300	6503	101756851	SO:0001819	synonymous_variant	55076			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.106C>A	3.37:g.100274161C>A			101756851	Q53YW5	Silent	SNP	ENST00000323523.4	37	CCDS2937.1																																																																																				0.388	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		A	100274161	C	A	100274161	2	1	401	1	0	0	0	0	0	0	0	1	16169	760	27	3		3	TMEM45A	3	100274161	Silent	SNP	C	TCGA-42-2588-01A-01D-1526-09		100274161	97748269	6	22019											
SLIT2	9353	genome.wustl.edu	37	4	20555547	20555547	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr4:20555547A>G	ENST00000504154.1	+	26	2933	c.2681A>G	c.(2680-2682)gAt>gGt	p.D894G	SLIT2_ENST00000503823.1_Missense_Mutation_p.D886G|SLIT2_ENST00000273739.5_Missense_Mutation_p.D898G|SLIT2_ENST00000503837.1_Missense_Mutation_p.D890G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	894	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAATGGCAGATAAACTTTTA	0.363																																																0			4											117	114	115					4																	20555547		2203	4300	6503	20164645	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2681A>G	4.37:g.20555547A>G	ENSP00000422591:p.Asp894Gly		20164645	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299511	0.60195	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;D	0.86865	-1.24;-1.26;-1.18;-1.22;-2.18	5.27	5.27	0.74061	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	N	0.03324	-0.35	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.68277	-0.5451	10	0.23891	T	0.37	.	15.4878	0.75582	1.0:0.0:0.0:0.0	.	886;894	O94813-3;O94813	.;SLIT2_HUMAN	G	886;894;898;890;890;95	ENSP00000427548:D886G;ENSP00000422591:D894G;ENSP00000273739:D898G;ENSP00000422261:D890G;ENSP00000421975:D95G	ENSP00000273739:D898G	D	+	2	0	SLIT2	20164645	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.256000	0.72473	2.128000	0.65567	0.377000	0.23210	GAT		0.363	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			G	20555547	A	G	20555547	3	3	401	1	0	0	0	0	1	0	0	0	14743	333	12	4	2783	4	SLIT2	4	20555547	Missense_Mutation	SNP	A	TCGA-42-2588-01A-01D-1526-09		20555547	170598729	7	22020											
ZNF622	90441	genome.wustl.edu	37	5	16463842	16463842	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr5:16463842T>C	ENST00000308683.2	-	2	761	c.635A>G	c.(634-636)gAt>gGt	p.D212G		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	212	Glu-rich.				intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGAATCAATATCTTCCCAATC	0.413																																																0			5											152	164	160					5																	16463842		2203	4300	6503	16516842	SO:0001583	missense	90441			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.635A>G	5.37:g.16463842T>C	ENSP00000310042:p.Asp212Gly		16516842		Missense_Mutation	SNP	ENST00000308683.2	37	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407580	0.83340	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.18	5.18	0.71444	.	0.092716	0.64402	N	0.000001	T	0.61553	0.2356	M	0.78049	2.395	0.80722	D	1	P	0.48294	0.908	B	0.43754	0.43	T	0.63664	-0.6586	9	0.27082	T	0.32	-3.0532	15.3358	0.74250	0.0:0.0:0.0:1.0	.	212	Q969S3	ZN622_HUMAN	G	212	.	ENSP00000310042:D212G	D	-	2	0	ZNF622	16516842	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.193000	0.77780	2.068000	0.61886	0.459000	0.35465	GAT		0.413	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		C	16463842	T	C	16463842	3	2	401	1	0	0	0	0	1	0	0	0	18046	1435	50	4	818	4	ZNF622	5	16463842	Missense_Mutation	SNP	T	TCGA-42-2588-01A-01D-1526-09		16463842	164451418	8	22021											
PCDHA5	56143	genome.wustl.edu	37	5	140202914	140202914	+	Silent	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr5:140202914G>A	ENST00000529859.1	+	1	1554	c.1554G>A	c.(1552-1554)gcG>gcA	p.A518A	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A518A|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A518A|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTACGCGCTGCAGCCGC	0.697																																																0			5											46	53	50					5																	140202914		2201	4299	6500	140183098	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1554G>A	5.37:g.140202914G>A			140183098	O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																				0.697	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140202914	G	A	140202914	2	1	401	1	0	0	0	0	0	0	0	1	11527	1074	38	1		1	PCDHA5	5	140202914	Silent	SNP	G	TCGA-42-2588-01A-01D-1526-09	123739072	140202914	40712346	9	22022											
TIMD4	91937	genome.wustl.edu	37	5	156378557	156378557	+	Silent	SNP	G	G	A	rs148564157		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr5:156378557G>A	ENST00000274532.2	-	3	701	c.645C>T	c.(643-645)ccC>ccT	p.P215P	TIMD4_ENST00000407087.3_Silent_p.P215P	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	215						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGAAGGCTCGGGAGTCAGAA	0.532																																																0			5						G	,	0,4406		0,0,2203	203	185	191		645,645	-1.9	0	5	dbSNP_134	191	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TIMD4	NM_001146726.1,NM_138379.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	215/351,215/379	156378557	2,13004	2203	4300	6503	156311135	SO:0001819	synonymous_variant	91937			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.645C>T	5.37:g.156378557G>A			156311135	B5MCL9	Silent	SNP	ENST00000274532.2	37	CCDS4332.1																																																																																				0.532	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		A	156378557	G	A	156378557	2	1	401	1	0	0	0	0	0	0	0	1	15903	1103	39	1		1	TIMD4	5	156378557	Silent	SNP	G	TCGA-42-2588-01A-01D-1526-09	16175643	156378557	24536703	10	22023											
KIAA0319	9856	genome.wustl.edu	37	6	24572835	24572835	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr6:24572835G>T	ENST00000378214.3	-	11	2350	c.1826C>A	c.(1825-1827)tCt>tAt	p.S609Y	KIAA0319_ENST00000430948.2_Missense_Mutation_p.S564Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S609Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S609Y|KIAA0319_ENST00000535378.1_Missense_Mutation_p.S600Y	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	609	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CACAGCAGTAGACTGTTGCCT	0.453																																																0			6											138	116	123					6																	24572835		2203	4300	6503	24680814	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1826C>A	6.37:g.24572835G>T	ENSP00000367459:p.Ser609Tyr		24680814	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873304	0.33069	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	4.31	4.31	0.51392	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (3);	0.100923	0.48767	D	0.000178	D	0.86381	0.5919	M	0.93420	3.415	0.46044	D	0.998836	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.90223	0.4273	10	0.72032	D	0.01	-14.7468	16.9707	0.86298	0.0:0.0:1.0:0.0	.	609;600;609	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Y	609;600;564;609;609	ENSP00000439700:S609Y;ENSP00000442403:S600Y;ENSP00000401086:S564Y;ENSP00000367459:S609Y;ENSP00000437656:S609Y	ENSP00000367459:S609Y	S	-	2	0	KIAA0319	24680814	1.000000	0.71417	0.098000	0.21074	0.078000	0.17371	3.216000	0.51176	2.207000	0.71202	0.655000	0.94253	TCT		0.453	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		T	24572835	G	T	24572835	3	4	401	1	0	0	0	0	1	0	0	0	8168	942	33	3	1436	3	KIAA0319	6	24572835	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09		24572835	146542232	11	22024											
C6orf154	221424	genome.wustl.edu	37	6	43477440	43477440	+	Silent	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr6:43477440G>A	ENST00000372441.1	-	1	984	c.84C>T	c.(82-84)aaC>aaT	p.N28N		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	28																	GGCGCACGGCGTTGTCGCGAA	0.736																																																0			6											6	7	7					6																	43477440		2086	4105	6191	43585418	SO:0001819	synonymous_variant	221424				CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 154"	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.84C>T	6.37:g.43477440G>A			43585418		Silent	SNP	ENST00000372441.1	37	CCDS34456.1																																																																																				0.736	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		A	43477440	G	A	43477440	2	1	401	1	0	0	0	0	0	0	0	1	2339	1136	40	1		1	C6orf154	6	43477440	Silent	SNP	G	TCGA-42-2588-01A-01D-1526-09	18904605	43477440	127637627	12	22025											
TFAP2B	7021	genome.wustl.edu	37	6	50811098	50811098	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr6:50811098G>A	ENST00000393655.3	+	7	1545	c.1376G>A	c.(1375-1377)aGg>aAg	p.R459K	TFAP2B_ENST00000263046.4_Missense_Mutation_p.R468K	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	459				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAGAAACACAGGAAATGAAAA	0.348																																					Pancreas(116;1373 2332 5475 10752)											0			6											28	29	29					6																	50811098		2195	4274	6469	50919057	SO:0001583	missense	7021			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1376G>A	6.37:g.50811098G>A	ENSP00000377265:p.Arg459Lys		50919057	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144419	0.77888	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.98044	-4.66;-4.68	4.64	4.64	0.57946	.	0.054502	0.64402	D	0.000001	D	0.97895	0.9308	M	0.78801	2.425	0.58432	D	0.999996	P	0.44690	0.841	P	0.54210	0.745	D	0.98252	1.0494	10	0.49607	T	0.09	-9.9386	17.5178	0.87779	0.0:0.0:1.0:0.0	.	459	Q92481	AP2B_HUMAN	K	459;468	ENSP00000377265:R459K;ENSP00000263046:R468K	ENSP00000263046:R468K	R	+	2	0	TFAP2B	50919057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.132000	0.65825	0.655000	0.94253	AGG		0.348	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		A	50811098	G	A	50811098	3	1	401	1	0	0	0	0	1	0	0	0	15788	1000	35	2	1402	2	TFAP2B	6	50811098	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09	7333658	50811098	120303969	13	22026											
LHX3	8022	genome.wustl.edu	37	9	139089515	139089515	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr9:139089515C>G	ENST00000371748.5	-	6	946	c.850G>C	c.(850-852)Ggc>Cgc	p.G284R	LHX3_ENST00000371746.3_Missense_Mutation_p.G289R	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	284					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GAGGGCCGGCCCAAGGCCTGG	0.667																																																0			9											10	12	11					9																	139089515		2192	4289	6481	138229336	SO:0001583	missense	8022			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.850G>C	9.37:g.139089515C>G	ENSP00000360813:p.Gly284Arg		138229336	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	CCDS6994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.405413|4.405413	0.83230|0.83230	.|.	.|.	ENSG00000107187|ENSG00000107187	ENST00000325195|ENST00000371748;ENST00000371746	.|D;D	.|0.90324	.|-2.48;-2.65	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.91081|0.91081	0.7193|0.7193	L|L	0.43152|0.43152	1.355|1.355	0.53688|0.53688	D|D	0.999977|0.999977	.|P;D	.|0.52996	.|0.923;0.957	.|P;P	.|0.57502	.|0.786;0.822	D|D	0.88754|0.88754	0.3252|0.3252	7|10	0.35671|0.21014	T|T	0.21|0.42	.|.	15.7531|15.7531	0.78001|0.78001	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|284;289	.|Q9UBR4;F1T0D9	.|LHX3_HUMAN;.	A|R	285|284;289	.|ENSP00000360813:G284R;ENSP00000360811:G289R	ENSP00000319224:G285A|ENSP00000360811:G289R	G|G	-|-	2|1	0|0	LHX3|LHX3	138229336|138229336	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.819000|0.819000	0.46315|0.46315	4.334000|4.334000	0.59291|0.59291	2.168000|2.168000	0.68352|0.68352	0.561000|0.561000	0.74099|0.74099	GGG|GGC		0.667	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			G	139089515	C	G	139089515	3	3	401	1	0	0	0	0	1	0	0	0	8772	623	22	3	347	3	LHX3	9	139089515	Missense_Mutation	SNP	C	TCGA-42-2588-01A-01D-1526-09		139089515	2123916	14	22027											
NEBL	10529	genome.wustl.edu	37	10	21185902	21185902	+	Silent	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr10:21185902C>T	ENST00000377122.4	-	2	534	c.138G>A	c.(136-138)acG>acA	p.T46T	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Silent_p.T46T|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	46					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATGAGTTCCGTGCATTTTC	0.353																																																0			10											151	153	152					10																	21185902		2203	4300	6503	21225908	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.138G>A	10.37:g.21185902C>T			21225908	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																				0.353	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		T	21185902	C	T	21185902	2	4	401	1	0	0	0	0	0	0	0	1	10303	639	23	1		1	NEBL	10	21185902	Silent	SNP	C	TCGA-42-2588-01A-01D-1526-09		21185902	114348845	15	22028											
PKD2L1	9033	genome.wustl.edu	37	10	102057289	102057289	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr10:102057289C>T	ENST00000318222.3	-	5	1188	c.806G>A	c.(805-807)gGc>gAc	p.G269D	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.G269D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	269					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CAGGTAGTAGCCACCTCCGCT	0.627																																																0			10											56	51	53					10																	102057289		2203	4300	6503	102047279	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.806G>A	10.37:g.102057289C>T	ENSP00000325296:p.Gly269Asp		102047279	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611260	0.87258	.	.	ENSG00000107593	ENST00000353274;ENST00000318222;ENST00000339977	D;D	0.83075	-1.68;-1.68	5.53	4.63	0.57726	Polycystin cation channel, PKD1/PKD2 (1);	0.098804	0.64402	D	0.000001	D	0.92599	0.7649	M	0.92833	3.35	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93818	0.7116	10	0.72032	D	0.01	-12.0702	13.2132	0.59836	0.0:0.9235:0.0:0.0765	.	222;269	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	269	ENSP00000266049:G269D;ENSP00000325296:G269D	ENSP00000325296:G269D	G	-	2	0	PKD2L1	102047279	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	6.029000	0.70895	1.330000	0.45394	0.561000	0.74099	GGC		0.627	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		T	102057289	C	T	102057289	3	4	401	1	0	0	0	0	1	0	0	0	11967	739	26	2	1659	2	PKD2L1	10	102057289	Missense_Mutation	SNP	C	TCGA-42-2588-01A-01D-1526-09	80871387	102057289	33477458	16	22029											
CKAP5	9793	genome.wustl.edu	37	11	46782247	46782247	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr11:46782247C>T	ENST00000529230.1	-	33	4355	c.4309G>A	c.(4309-4311)Gag>Aag	p.E1437K	SNORD67_ENST00000390833.1_RNA|SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1437K|CKAP5_ENST00000415402.1_Missense_Mutation_p.E1437K|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1437K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1437					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGAGGTTTCTCTTCCACCTGT	0.473																																					Ovarian(4;85 273 2202 4844 13323)											0			11											216	185	196					11																	46782247		2201	4299	6500	46738823	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4309G>A	11.37:g.46782247C>T	ENSP00000432768:p.Glu1437Lys		46738823	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419776	0.62622	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.043640	0.85682	D	0.000000	T	0.44201	0.1282	L	0.29908	0.895	0.58432	D	0.999998	D;D;P	0.60575	0.988;0.972;0.953	P;P;P	0.53861	0.736;0.673;0.473	T	0.09997	-1.0649	10	0.06891	T	0.86	-14.0721	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1437;1437;1437	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	K	1437;1437;1437;1437;160	ENSP00000432768:E1437K;ENSP00000395302:E1437K;ENSP00000310227:E1437K;ENSP00000346566:E1437K	ENSP00000310227:E1437K	E	-	1	0	CKAP5	46738823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.854000	0.98071	0.655000	0.94253	GAG		0.473	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		T	46782247	C	T	46782247	3	4	401	1	0	0	0	0	1	0	0	0	3445	922	32	2	1837	2	CKAP5	11	46782247	Missense_Mutation	SNP	C	TCGA-42-2588-01A-01D-1526-09		46782247	88224269	17	22030											
TBX3	6926	genome.wustl.edu	37	12	115112565	115112565	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr12:115112565G>A	ENST00000257566.3	-	7	1564	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	TBX3_ENST00000349155.2_Missense_Mutation_p.A372V	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	392					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GATCTTGGCCGCGTCGCAGGC	0.652																																																0			12											11	12	12					12																	115112565		2186	4284	6470	113596948	SO:0001583	missense	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1175C>T	12.37:g.115112565G>A	ENSP00000257566:p.Ala392Val		113596948	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538155	0.65085	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87650	-2.28;-2.27	4.99	3.88	0.44766	Transcription factor, T-box, region of unknown function (1);	0.815131	0.10259	N	0.696160	T	0.79936	0.4532	N	0.22421	0.69	0.31465	N	0.669146	B;B	0.27416	0.007;0.178	B;B	0.26094	0.016;0.066	T	0.75536	-0.3283	10	0.33141	T	0.24	.	13.3521	0.60607	0.092:0.0:0.908:0.0	.	372;392	O15119-2;O15119	.;TBX3_HUMAN	V	372;392;392	ENSP00000257567:A372V;ENSP00000257566:A392V	ENSP00000257566:A392V	A	-	2	0	TBX3	113596948	0.567000	0.26626	0.993000	0.49108	0.974000	0.67602	3.590000	0.53979	2.310000	0.77875	0.591000	0.81541	GCG		0.652	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		A	115112565	G	A	115112565	3	1	401	1	0	0	0	0	1	0	0	0	15659	1087	38	1	1064	1	TBX3	12	115112565	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09		115112565	18739330	18	22031											
CCDC62	84660	genome.wustl.edu	37	12	123276620	123276620	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr12:123276620C>T	ENST00000253079.6	+	6	1068	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	CCDC62_ENST00000392441.4_Missense_Mutation_p.R242C|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	242					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGAGATCATTCGCCTCAAGCA	0.383																																																0			12											126	123	124					12																	123276620		2203	4300	6503	121842573	SO:0001583	missense	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.724C>T	12.37:g.123276620C>T	ENSP00000253079:p.Arg242Cys		121842573	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234481	0.79800	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.36520	1.25;1.25	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000018	T	0.59088	0.2168	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.62124	-0.6920	10	0.72032	D	0.01	-13.3602	14.4063	0.67083	0.0:1.0:0.0:0.0	.	242;242	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	C	242	ENSP00000253079:R242C;ENSP00000376236:R242C	ENSP00000253079:R242C	R	+	1	0	CCDC62	121842573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.400000	0.59709	2.529000	0.85273	0.585000	0.79938	CGC		0.383	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		T	123276620	C	T	123276620	3	4	401	1	0	0	0	0	1	0	0	0	2833	884	31	1	746	1	CCDC62	12	123276620	Missense_Mutation	SNP	C	TCGA-42-2588-01A-01D-1526-09	8164055	123276620	10575275	19	22032											
ATP12A	479	genome.wustl.edu	37	13	25276176	25276176	+	Missense_Mutation	SNP	G	G	A	rs34864304|rs370861260		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr13:25276176G>A	ENST00000381946.3	+	14	2152	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Missense_Mutation_p.R668H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	662					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R662H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ATTGCACATCGCCTCAACATT	0.463																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - Missense(1)	large_intestine(1)	13						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	199	161	174		2003,1985	5.4	1	13		174	0,8600		0,0,4300	no	missense,missense	ATP12A	NM_001185085.1,NM_001676.5	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	668/1046,662/1040	25276176	1,13005	2203	4300	6503	24174176	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1985G>A	13.37:g.25276176G>A	ENSP00000371372:p.Arg662His		24174176	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876217	0.72180	2.27E-4	0.0	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99014	-5.33;-5.33	5.4	5.4	0.78164	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.64402	D	0.000002	D	0.98767	0.9585	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67900	0.954;0.946	D	0.99880	1.1111	10	0.87932	D	0	.	17.0213	0.86434	0.0:0.0:1.0:0.0	.	668;662	P54707-2;P54707	.;AT12A_HUMAN	H	668;662	ENSP00000218548:R668H;ENSP00000371372:R662H	ENSP00000218548:R668H	R	+	2	0	ATP12A	24174176	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	9.695000	0.98691	2.692000	0.91855	0.467000	0.42956	CGC		0.463	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		A	25276176	G	A	25276176	3	1	401	1	0	0	0	0	1	0	0	0	1122	1087	38	1	2057	1	ATP12A	13	25276176	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09		25276176	89893702	20	22033											
SIPA1L1	26037	genome.wustl.edu	37	14	72200444	72200444	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr14:72200444G>A	ENST00000555818.1	+	19	5334	c.4986G>A	c.(4984-4986)atG>atA	p.M1662I	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.M1116I|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.M1641I|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.M1641I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1662					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGCAGCCTATGCCCGACCCTG	0.587																																																0			14											97	84	89					14																	72200444		2203	4300	6503	71270197	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4986G>A	14.37:g.72200444G>A	ENSP00000450832:p.Met1662Ile		71270197	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111537	0.37242	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.09	2.19	0.27852	.	0.343142	0.37053	N	0.002265	T	0.34454	0.0898	L	0.36672	1.1	0.40923	D	0.984323	B;B;B;P;D	0.55172	0.178;0.0;0.014;0.631;0.97	B;B;B;B;P	0.58577	0.057;0.0;0.03;0.31;0.841	T	0.04229	-1.0967	10	0.16420	T	0.52	-9.7712	11.1005	0.48170	0.0:0.1242:0.6178:0.258	.	1116;1662;1116;1641;1662	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	I	1641;1662;1641;1116	ENSP00000370630:M1641I;ENSP00000450832:M1662I;ENSP00000351352:M1641I;ENSP00000440682:M1116I	ENSP00000351352:M1662I	M	+	3	0	SIPA1L1	71270197	0.993000	0.37304	0.994000	0.49952	0.915000	0.54546	0.395000	0.20850	0.240000	0.21263	0.561000	0.74099	ATG		0.587	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		A	72200444	G	A	72200444	3	1	401	1	0	0	0	0	1	0	0	0	14332	1319	46	2	5056	2	SIPA1L1	14	72200444	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09		72200444	35149096	21	22034											
CLPX	10845	genome.wustl.edu	37	15	65471338	65471338	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr15:65471338T>C	ENST00000300107.3	-	3	480	c.292A>G	c.(292-294)Aaa>Gaa	p.K98E		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	98					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTCCACCTTTCCCAGAATTC	0.403																																																0			15											122	112	115					15																	65471338		2202	4299	6501	63258391	SO:0001583	missense	10845			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"ATPases / AAA-type"	2088	protein-coding gene	gene with protein product		615611	"ClpX (caseinolytic protease X, E. coli) homolog", "ClpX caseinolytic protease X homolog (E. coli)", "ClpX caseinolytic peptidase X homolog (E. coli)"			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.292A>G	15.37:g.65471338T>C	ENSP00000300107:p.Lys98Glu		63258391	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532561	0.85812	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.28454	1.61	5.14	4.02	0.46733	.	0.046926	0.85682	N	0.000000	T	0.25938	0.0632	L	0.42245	1.32	0.53005	D	0.999961	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.003	T	0.04017	-1.0984	10	0.38643	T	0.18	.	10.7813	0.46379	0.0:0.0739:0.0:0.9261	.	98;98	Q9H072;O76031	.;CLPX_HUMAN	E	98	ENSP00000300107:K98E	ENSP00000300107:K98E	K	-	1	0	CLPX	63258391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.316000	0.79007	0.983000	0.38602	0.533000	0.62120	AAA		0.403	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		C	65471338	T	C	65471338	3	2	401	1	0	0	0	0	1	0	0	0	3556	1792	62	4	1657	4	CLPX	15	65471338	Missense_Mutation	SNP	T	TCGA-42-2588-01A-01D-1526-09		65471338	37060054	22	22035											
PARP16	54956	genome.wustl.edu	37	15	65559014	65559014	+	Silent	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr15:65559014G>A	ENST00000261888.6	-	3	850	c.405C>T	c.(403-405)aaC>aaT	p.N135N	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	135	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.N135N(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AAAATTTGGCGTTGGCTGGGT	0.453																																					NSCLC(50;885 1163 13509 21242 41978)											1	Substitution - coding silent(1)	lung(1)	15											130	120	123					15																	65559014		2201	4299	6500	63346067	SO:0001819	synonymous_variant	54956			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"Poly (ADP-ribose) polymerases"	26040	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 30"	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.405C>T	15.37:g.65559014G>A			63346067	Q6PK64|Q9NX03	Silent	SNP	ENST00000261888.6	37	CCDS10204.1																																																																																				0.453	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851		A	65559014	G	A	65559014	2	1	401	1	0	0	0	0	0	0	0	1	11460	1136	40	1		1	PARP16	15	65559014	Silent	SNP	G	TCGA-42-2588-01A-01D-1526-09	87676	65559014	36972378	23	22036											
LPCAT2	54947	genome.wustl.edu	37	16	55579714	55579714	+	Missense_Mutation	SNP	G	G	A	rs141449615		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr16:55579714G>A	ENST00000262134.5	+	9	1104	c.920G>A	c.(919-921)cGg>cAg	p.R307Q		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	307					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AATAAAGTCCGGAATTTAATG	0.284													G|||	1	0.000199681	0	0	5008	,	,		17499	0		0	False		,,,				2504	0.001															0			16						G	GLN/ARG	0,4396		0,0,2198	96	95	95		920	6	1	16	dbSNP_134	95	1,8597	1.2+/-3.3	0,1,4298	yes	missense	LPCAT2	NM_017839.4	43	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	307/545	55579714	1,12993	2198	4299	6497	54137215	SO:0001583	missense	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.920G>A	16.37:g.55579714G>A	ENSP00000262134:p.Arg307Gln		54137215	A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283000	0.95489	0.0	1.16E-4	ENSG00000087253	ENST00000262134	D	0.93189	-3.18	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.72624	2.21	0.80722	D	1	D	0.61080	0.989	P	0.53313	0.723	D	0.94431	0.7649	10	0.48119	T	0.1	-26.6955	20.1358	0.98028	0.0:0.0:1.0:0.0	.	307	Q7L5N7	PCAT2_HUMAN	Q	307	ENSP00000262134:R307Q	ENSP00000262134:R307Q	R	+	2	0	LPCAT2	54137215	1.000000	0.71417	0.995000	0.50966	0.753000	0.42808	8.225000	0.89784	2.865000	0.98341	0.655000	0.94253	CGG		0.284	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		A	55579714	G	A	55579714	3	1	401	1	0	0	0	0	1	0	0	0	8911	1116	39	1	954	1	LPCAT2	16	55579714	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09		55579714	34775039	24	22037											
MYH2	4620	genome.wustl.edu	37	17	10432209	10432209	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr17:10432209C>T	ENST00000245503.5	-	27	3926	c.3542G>A	c.(3541-3543)cGc>cAc	p.R1181H	MYH2_ENST00000397183.2_Missense_Mutation_p.R1181H|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1181					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGGTCCCTGCGCATTTTCTG	0.592																																																0			17											74	80	78					17																	10432209		2203	4300	6503	10372934	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3542G>A	17.37:g.10432209C>T	ENSP00000245503:p.Arg1181His		10372934	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789525	0.90367	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83914	-1.78;-1.78	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.93671	0.7978	H	0.94771	3.58	0.58432	D	0.999992	D	0.89917	1.0	D	0.74023	0.982	D	0.94599	0.7794	10	0.56958	D	0.05	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	1181	Q9UKX2	MYH2_HUMAN	H	1181	ENSP00000245503:R1181H;ENSP00000380367:R1181H	ENSP00000245503:R1181H	R	-	2	0	MYH2	10372934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.437000	0.80417	2.707000	0.92482	0.655000	0.94253	CGC		0.592	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10432209	C	T	10432209	3	4	401	1	0	0	0	0	1	0	0	0	10035	768	27	1	2339	1	MYH2	17	10432209	Missense_Mutation	SNP	C	TCGA-42-2588-01A-01D-1526-09		10432209	70763001	25	22038											
PHF12	57649	genome.wustl.edu	37	17	27277212	27277212	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr17:27277212C>T	ENST00000332830.4	-	2	929	c.119G>A	c.(118-120)aGt>aAt	p.S40N	PHF12_ENST00000577226.1_Missense_Mutation_p.S40N|PHF12_ENST00000268756.3_Missense_Mutation_p.S40N	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGGCTTCCGACTGCGCTTTTC	0.622																																																0			17											64	63	64					17																	27277212		2203	4300	6503	24301338	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.119G>A	17.37:g.27277212C>T	ENSP00000329933:p.Ser40Asn		24301338		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847778	0.51164	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94828	-3.51;-3.53;-3.53	4.43	4.43	0.53597	Zinc finger, FYVE/PHD-type (1);	0.090275	0.85682	D	0.000000	D	0.92110	0.7499	N	0.15975	0.35	0.80722	D	1	P;D;D;D;P	0.61697	0.948;0.97;0.969;0.99;0.948	P;P;P;P;P	0.54346	0.533;0.749;0.634;0.749;0.533	D	0.92250	0.5808	10	0.39692	T	0.17	-5.8021	16.1538	0.81644	0.0:1.0:0.0:0.0	.	22;40;40;40;40	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	N	40	ENSP00000329933:S40N;ENSP00000368157:S40N;ENSP00000268756:S40N	ENSP00000268756:S40N	S	-	2	0	PHF12	24301338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.174000	0.77620	2.442000	0.82660	0.655000	0.94253	AGT		0.622	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		T	27277212	C	T	27277212	3	4	401	1	0	0	0	0	1	0	0	0	11823	565	20	2	2977	2	PHF12	17	27277212	Missense_Mutation	SNP	C	TCGA-42-2588-01A-01D-1526-09	16845003	27277212	53917998	26	22039											
TTLL6	284076	genome.wustl.edu	37	17	46847347	46847347	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr17:46847347G>A	ENST00000393382.3	-	14	2294	c.2153C>T	c.(2152-2154)aCg>aTg	p.T718M	TTLL6_ENST00000433608.2_Missense_Mutation_p.T411M	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CACCCTGTCCGTCTCTGGGCC	0.512																																																0			17											71	74	73					17																	46847347		2203	4300	6503	44202346	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2153C>T	17.37:g.46847347G>A	ENSP00000377043:p.Thr718Met		44202346		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	0.848	-0.739545	0.03088	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.26	-0.865	0.10662	.	754.542000	0.00166	N	0.000000	T	0.14442	0.0349	N	0.02142	-0.665	0.09310	N	1	B;B	0.20887	0.008;0.049	B;B	0.09377	0.004;0.004	T	0.10636	-1.0621	9	0.29301	T	0.29	.	4.2181	0.10544	0.4508:0.1964:0.3528:0.0	.	670;411	Q8N841;G5E937	TTLL6_HUMAN;.	M	718;411;396;670	.	ENSP00000302547:T411M	T	-	2	0	TTLL6	44202346	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.039000	0.13884	-0.270000	0.09285	-1.004000	0.02495	ACG		0.512	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		A	46847347	G	A	46847347	3	1	401	1	0	0	0	0	1	0	0	0	16731	1145	40	1	530	1	TTLL6	17	46847347	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09	19570135	46847347	34347863	27	22040											
ABCC3	8714	genome.wustl.edu	37	17	48742574	48742574	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr17:48742574G>A	ENST00000285238.8	+	11	1479	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	ABCC3_ENST00000427699.1_Missense_Mutation_p.G467R	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	467	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCCACTCAACGGAGCTGTGGC	0.607																																																0			17											140	102	115					17																	48742574		2203	4300	6503	46097573	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1399G>A	17.37:g.48742574G>A	ENSP00000285238:p.Gly467Arg		46097573	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058883	0.76074	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.91686	-2.89;-2.55	4.47	3.47	0.39725	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.317736	0.26887	N	0.021996	D	0.93795	0.8016	M	0.72576	2.205	0.39222	D	0.963522	D;D	0.63046	0.992;0.978	P;P	0.56127	0.792;0.651	D	0.94641	0.7830	10	0.87932	D	0	-0.9993	12.8743	0.57982	0.0:0.0:0.69:0.31	.	467;467	O15438;O15438-5	MRP3_HUMAN;.	R	467	ENSP00000395160:G467R;ENSP00000285238:G467R	ENSP00000285238:G467R	G	+	1	0	ABCC3	46097573	1.000000	0.71417	0.991000	0.47740	0.740000	0.42216	4.580000	0.60942	1.210000	0.43336	0.655000	0.94253	GGA		0.607	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48742574	G	A	48742574	3	1	401	1	0	0	0	0	1	0	0	0	54	1117	39	1	1441	1	ABCC3	17	48742574	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09	1895227	48742574	32452636	28	22041											
NPHS1	4868	genome.wustl.edu	37	19	36322249	36322249	+	Silent	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr19:36322249G>A	ENST00000378910.5	-	26	3335	c.3336C>T	c.(3334-3336)aaC>aaT	p.N1112N	NPHS1_ENST00000353632.6_Silent_p.N1072N	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1112					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCATATTCGTTCCTGACTC	0.632																																																0			19											100	94	96					19																	36322249		2203	4300	6503	41014089	SO:0001819	synonymous_variant	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3336C>T	19.37:g.36322249G>A			41014089	A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	CCDS32996.1																																																																																				0.632	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			A	36322249	G	A	36322249	2	1	401	1	0	0	0	0	0	0	0	1	10582	1136	40	1		1	NPHS1	19	36322249	Silent	SNP	G	TCGA-42-2588-01A-01D-1526-09		36322249	22806734	29	22042											
C20orf112	140688	genome.wustl.edu	37	20	31040143	31040143	+	Missense_Mutation	SNP	G	G	A	rs371649171		TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chr20:31040143G>A	ENST00000359676.5	-	7	1128	c.986C>T	c.(985-987)cCt>cTt	p.P329L	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'Flank	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		329						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GGCGTACACAGGGTCCTGGGA	0.632																																																0			20											155	132	140					20																	31040143		2203	4300	6503	30503804	SO:0001583	missense	140688																														ENST00000359676.5:c.986C>T	20.37:g.31040143G>A	ENSP00000352704:p.Pro329Leu		30503804	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870933	0.72065	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	4.66	4.66	0.58398	.	0.266225	0.37809	N	0.001936	T	0.52354	0.1729	L	0.59436	1.845	0.80722	D	1	P	0.42518	0.782	B	0.37144	0.242	T	0.53315	-0.8456	9	0.20519	T	0.43	-2.4671	17.3569	0.87338	0.0:0.0:1.0:0.0	.	329	Q96MY1	CT112_HUMAN	L	329	.	ENSP00000352704:P329L	P	-	2	0	C20orf112	30503804	1.000000	0.71417	0.973000	0.42090	0.971000	0.66376	6.786000	0.75094	2.423000	0.82170	0.561000	0.74099	CCT		0.632	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			A	31040143	G	A	31040143	3	1	401	1	0	0	0	0	1	0	0	0	2081	1000	35	2	332	2	C20orf112	20	31040143	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09		31040143	31985377	30	22043											
FAM120C	54954	genome.wustl.edu	37	X	54209006	54209006	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chrX:54209006G>A	ENST00000375180.2	-	1	682	c.626C>T	c.(625-627)cCg>cTg	p.P209L	FAM120C_ENST00000328235.4_Missense_Mutation_p.P209L|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_Missense_Mutation_p.P209L	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	209							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCAGGCCCGCGGTGGAGGGGT	0.677																																																0			X											27	22	24					X																	54209006		2199	4287	6486	54225731	SO:0001583	missense	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.626C>T	X.37:g.54209006G>A	ENSP00000364324:p.Pro209Leu		54225731	B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.030838	0.75504	.	.	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.74002	-0.8;-0.8;-0.8	3.62	1.78	0.24846	.	0.270941	0.35970	N	0.002877	T	0.80439	0.4623	L	0.61218	1.895	0.58432	D	0.999999	D;B;D	0.89917	0.999;0.06;1.0	D;B;D	0.91635	0.967;0.017;0.999	T	0.76599	-0.2900	10	0.54805	T	0.06	-4.1336	6.6222	0.22810	0.1041:0.0:0.7189:0.177	.	209;209;209	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	L	209	ENSP00000364324:P209L;ENSP00000329896:P209L;ENSP00000420718:P209L	ENSP00000329896:P209L	P	-	2	0	FAM120C	54225731	1.000000	0.71417	0.914000	0.36105	0.991000	0.79684	7.254000	0.78329	0.198000	0.20407	0.513000	0.50165	CCG		0.677	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		A	54209006	G	A	54209006	3	1	401	1	0	0	0	0	1	0	0	0	5418	1116	39	1	2750	1	FAM120C	23	54209006	Missense_Mutation	SNP	G	TCGA-42-2588-01A-01D-1526-09		54209006	101061554	31	22044											
GUCY2F	2986	genome.wustl.edu	37	X	108647661	108647661	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2588-01A-01D-1526-09	TCGA-42-2588-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	fe72ab5e-2866-497a-b5b6-a5aad0378fcb	25fdeeac-887c-4d77-9201-06af483c7525	g.chrX:108647661C>T	ENST00000218006.2	-	10	2312	c.2021G>A	c.(2020-2022)cGa>cAa	p.R674Q		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	674	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CACACAGTTTCGAGACTTTAG	0.388																																																0			X											165	147	153					X																	108647661		2203	4300	6503	108534317	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2021G>A	X.37:g.108647661C>T	ENSP00000218006:p.Arg674Gln		108534317	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319809	0.81469	.	.	ENSG00000101890	ENST00000218006	D	0.87334	-2.24	4.35	3.49	0.39957	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058247	0.64402	D	0.000003	D	0.88459	0.6442	M	0.70842	2.15	0.52099	D	0.999946	P	0.51791	0.948	P	0.52031	0.688	D	0.86728	0.1946	10	0.39692	T	0.17	.	9.6611	0.39956	0.0:0.8942:0.0:0.1058	.	674	P51841	GUC2F_HUMAN	Q	674	ENSP00000218006:R674Q	ENSP00000218006:R674Q	R	-	2	0	GUCY2F	108534317	0.994000	0.37717	0.948000	0.38648	0.989000	0.77384	3.211000	0.51137	1.195000	0.43115	0.529000	0.55759	CGA		0.388	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		T	108647661	C	T	108647661	3	4	401	1	0	0	0	0	1	0	0	0	6898	884	31	1	1345	1	GUCY2F	23	108647661	Missense_Mutation	SNP	C	TCGA-42-2588-01A-01D-1526-09	54438655	108647661	46622899	32	22045											
CYP4Z1	199974	genome.wustl.edu	37	1	47583523	47583523	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr1:47583523C>A	ENST00000334194.3	+	12	1438	c.1435C>A	c.(1435-1437)Cac>Aac	p.H479N	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	479						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GGCTCCAGACCACTCAAGGCC	0.463																																																0			1											80	70	73					1																	47583523		2203	4300	6503	47356110	SO:0001583	missense	199974			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1435C>A	1.37:g.47583523C>A	ENSP00000334246:p.His479Asn		47356110	Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	CCDS545.1	.	.	.	.	.	.	.	.	.	.	c	11.69	1.713520	0.30413	.	.	ENSG00000186160	ENST00000334194	T	0.68479	-0.33	1.87	-2.29	0.06805	.	0.292311	0.13232	U	0.403611	T	0.39682	0.1087	N	0.05012	-0.13	0.09310	N	1	B	0.28178	0.202	B	0.33690	0.168	T	0.31971	-0.9924	10	0.35671	T	0.21	.	4.9864	0.14192	0.0:0.5683:0.1737:0.258	.	479	Q86W10	CP4Z1_HUMAN	N	479	ENSP00000334246:H479N	ENSP00000334246:H479N	H	+	1	0	CYP4Z1	47356110	0.000000	0.05858	0.003000	0.11579	0.695000	0.40330	0.223000	0.17719	-0.212000	0.10109	0.271000	0.19318	CAC		0.463	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		A	47583523	C	A	47583523	3	1	402	1	0	0	0	0	1	0	0	0	4194	594	21	3	1481	3	CYP4Z1	1	47583523	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09		47583523	201667098	1	22046											
LYSMD1	388695	genome.wustl.edu	37	1	151134352	151134352	+	Silent	SNP	A	A	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr1:151134352A>T	ENST00000368908.5	-	2	1065	c.405T>A	c.(403-405)ggT>ggA	p.G135G	LYSMD1_ENST00000440902.2_Silent_p.G87G	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	135										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGGACTTCACCATTGGCAC	0.507																																																0			1											222	187	199					1																	151134352		2203	4300	6503	149400976	SO:0001819	synonymous_variant	388695			BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.405T>A	1.37:g.151134352A>T			149400976	B4DQA1|Q69YX9	Silent	SNP	ENST00000368908.5	37	CCDS986.1																																																																																				0.507	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		T	151134352	A	T	151134352	2	4	402	1	0	0	0	0	0	0	0	1	9124	146	6	5		5	LYSMD1	1	151134352	Silent	SNP	A	TCGA-42-2589-01A-01D-1526-09	103550829	151134352	98116269	2	22047											
KPRP	448834	genome.wustl.edu	37	1	152732155	152732155	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr1:152732155G>A	ENST00000606109.1	+	1	119	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	KPRP_ENST00000368773.1_Missense_Mutation_p.A31T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	31	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCCCTTTGCCCAGAGCCA	0.582																																																0			1											123	121	122					1																	152732155		2203	4300	6503	150998779	SO:0001583	missense	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.91G>A	1.37:g.152732155G>A	ENSP00000475216:p.Ala31Thr		150998779		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376988	0.24857	.	.	ENSG00000203786	ENST00000368773	T	0.16324	2.35	5.26	-0.34	0.12643	.	0.434159	0.19818	N	0.105396	T	0.05640	0.0148	M	0.62723	1.935	0.09310	N	1	B	0.26602	0.154	B	0.23716	0.048	T	0.26326	-1.0106	10	0.72032	D	0.01	-5.4376	4.3371	0.11092	0.2846:0.3177:0.3977:0.0	.	31	Q5T749	KPRP_HUMAN	T	31	ENSP00000357762:A31T	ENSP00000357762:A31T	A	+	1	0	KPRP	150998779	0.002000	0.14202	0.076000	0.20297	0.179000	0.23085	0.444000	0.21661	0.122000	0.18314	0.655000	0.94253	GCC		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152732155	G	A	152732155	3	1	402	1	0	0	0	0	1	0	0	0	8436	1319	46	2	93	2	KPRP	1	152732155	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	1597803	152732155	96518466	3	22048											
SLAMF6	114836	genome.wustl.edu	37	1	160460936	160460936	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr1:160460936A>G	ENST00000368057.3	-	3	685	c.625T>C	c.(625-627)Tct>Cct	p.S209P	SLAMF6_ENST00000368055.1_Missense_Mutation_p.S98P|SLAMF6_ENST00000368059.3_Missense_Mutation_p.S209P			Q96DU3	SLAF6_HUMAN	SLAM family member 6	209	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTCTGGGCAGAGACAGAGAAG	0.502																																																0			1											87	88	87					1																	160460936		2203	4300	6503	158727560	SO:0001583	missense	114836			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.625T>C	1.37:g.160460936A>G	ENSP00000357036:p.Ser209Pro		158727560	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.857155	0.32791	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.40225	1.04;1.04;1.04	4.05	2.89	0.33648	Immunoglobulin-like (1);	0.644986	0.15581	N	0.254940	T	0.45013	0.1321	M	0.77406	2.37	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999;0.999	T	0.21895	-1.0232	10	0.34782	T	0.22	-3.998	6.7393	0.23426	0.7909:0.0:0.0:0.2091	.	98;98;160;209;209;209	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	P	209;209;98	ENSP00000357038:S209P;ENSP00000357036:S209P;ENSP00000357034:S98P	ENSP00000357034:S98P	S	-	1	0	SLAMF6	158727560	0.001000	0.12720	0.202000	0.23494	0.339000	0.28857	0.038000	0.13862	0.694000	0.31654	0.533000	0.62120	TCT		0.502	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		G	160460936	A	G	160460936	3	3	402	1	0	0	0	0	1	0	0	0	14371	304	11	4	397	4	SLAMF6	1	160460936	Missense_Mutation	SNP	A	TCGA-42-2589-01A-01D-1526-09	7728781	160460936	88789685	4	22049											
LAMC1	3915	genome.wustl.edu	37	1	183109570	183109570	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr1:183109570A>G	ENST00000258341.4	+	27	4762	c.4505A>G	c.(4504-4506)aAt>aGt	p.N1502S	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1502	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCCGAGATCAATGCCAGAAAA	0.418																																																0			1											75	75	75					1																	183109570		2203	4300	6503	181376193	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4505A>G	1.37:g.183109570A>G	ENSP00000258341:p.Asn1502Ser		181376193	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451312	0.43531	.	.	ENSG00000135862	ENST00000258341	T	0.77229	-1.08	5.31	4.19	0.49359	.	0.200515	0.50627	D	0.000104	T	0.60483	0.2272	N	0.17082	0.46	0.53688	D	0.999978	B	0.09022	0.002	B	0.08055	0.003	T	0.57165	-0.7858	10	0.35671	T	0.21	.	9.2185	0.37362	0.9181:0.0:0.0819:0.0	.	1502	P11047	LAMC1_HUMAN	S	1502	ENSP00000258341:N1502S	ENSP00000258341:N1502S	N	+	2	0	LAMC1	181376193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.508000	0.67006	2.010000	0.58986	0.533000	0.62120	AAT		0.418	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		G	183109570	A	G	183109570	3	3	402	1	0	0	0	0	1	0	0	0	8614	101	4	4	4611	4	LAMC1	1	183109570	Missense_Mutation	SNP	A	TCGA-42-2589-01A-01D-1526-09	22648634	183109570	66141051	5	22050											
KCNH1	3756	genome.wustl.edu	37	1	211256199	211256199	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr1:211256199T>A	ENST00000271751.4	-	5	508	c.481A>T	c.(481-483)Agc>Tgc	p.S161C	KCNH1_ENST00000367007.4_Missense_Mutation_p.S161C			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	161					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACACCCCTGCTGCTTGTCAGT	0.557																																																0			1											96	78	84					1																	211256199		2203	4300	6503	209322822	SO:0001583	missense	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.481A>T	1.37:g.211256199T>A	ENSP00000271751:p.Ser161Cys		209322822	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632540	0.87660	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99113	-5.4;-5.44	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.67625	2.065	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.63033	0.88;0.91	D	0.99686	1.1000	10	0.87932	D	0	.	14.4148	0.67142	0.0:0.0:0.0:1.0	.	161;161	Q14CL3;O95259	.;KCNH1_HUMAN	C	161	ENSP00000271751:S161C;ENSP00000355974:S161C	ENSP00000271751:S161C	S	-	1	0	KCNH1	209322822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.592000	0.82676	2.061000	0.61500	0.533000	0.62120	AGC		0.557	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		A	211256199	T	A	211256199	3	1	402	1	0	0	0	0	1	0	0	0	8031	1580	55	5	2516	5	KCNH1	1	211256199	Missense_Mutation	SNP	T	TCGA-42-2589-01A-01D-1526-09	28146629	211256199	37994422	6	22051											
B3GALNT2	148789	genome.wustl.edu	37	1	235613591	235613591	+	Missense_Mutation	SNP	G	G	A	rs373773440		TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr1:235613591G>A	ENST00000366600.3	-	12	1661	c.1433C>T	c.(1432-1434)cCg>cTg	p.P478L		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	478					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CAGTTCCCACGGAGAATACTG	0.483																																																0			1						G	LEU/PRO	0,4406		0,0,2203	111	101	104		1433	5.4	0.1	1		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	B3GALNT2	NM_152490.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	478/501	235613591	1,13005	2203	4300	6503	233680214	SO:0001583	missense	148789			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1433C>T	1.37:g.235613591G>A	ENSP00000355559:p.Pro478Leu		233680214	Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	ENST00000366600.3	37	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286367	0.95517	0.0	1.16E-4	ENSG00000162885	ENST00000366600	T	0.66460	-0.21	5.41	5.41	0.78517	.	0.104954	0.64402	D	0.000003	T	0.73760	0.3628	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.50405	0.64	T	0.76016	-0.3113	10	0.56958	D	0.05	-10.6192	19.5534	0.95331	0.0:0.0:1.0:0.0	.	478	Q8NCR0	B3GL2_HUMAN	L	478	ENSP00000355559:P478L	ENSP00000355559:P478L	P	-	2	0	B3GALNT2	233680214	1.000000	0.71417	0.051000	0.19133	0.692000	0.40212	7.184000	0.77705	2.697000	0.92050	0.563000	0.77884	CCG		0.483	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		A	235613591	G	A	235613591	3	1	402	1	0	0	0	0	1	0	0	0	1246	1116	39	1	73	1	B3GALNT2	1	235613591	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	24357392	235613591	13637030	7	22052											
EMILIN1	11117	genome.wustl.edu	37	2	27305517	27305517	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr2:27305517C>G	ENST00000380320.4	+	4	1577	c.1078C>G	c.(1078-1080)Cgg>Ggg	p.R360G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	360					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCTGGGCCGGCGACTGGC	0.716																																																0			2											6	7	7					2																	27305517		2139	4174	6313	27159021	SO:0001583	missense	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1078C>G	2.37:g.27305517C>G	ENSP00000369677:p.Arg360Gly		27159021	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888167	0.33348	.	.	ENSG00000138080	ENST00000380320	T	0.63580	-0.05	5.25	4.37	0.52481	.	0.330677	0.26013	N	0.026862	T	0.44159	0.1280	N	0.24115	0.695	0.34163	D	0.668939	B	0.32203	0.36	B	0.28465	0.09	T	0.54214	-0.8327	10	0.25751	T	0.34	-17.5494	10.977	0.47472	0.3398:0.6602:0.0:0.0	.	360	Q9Y6C2	EMIL1_HUMAN	G	360	ENSP00000369677:R360G	ENSP00000369677:R360G	R	+	1	2	EMILIN1	27159021	0.009000	0.17119	0.995000	0.50966	0.912000	0.54170	0.832000	0.27490	1.209000	0.43321	0.407000	0.27541	CGG		0.716	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		G	27305517	C	G	27305517	3	3	402	1	0	0	0	0	1	0	0	0	5093	643	23	3	1092	3	EMILIN1	2	27305517	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09		27305517	215893856	8	22053											
SNX17	9784	genome.wustl.edu	37	2	27596119	27596119	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr2:27596119C>G	ENST00000233575.2	+	4	484	c.262C>G	c.(262-264)Caa>Gaa	p.Q88E	EIF2B4_ENST00000493344.2_5'Flank|EIF2B4_ENST00000445933.2_5'Flank|SNX17_ENST00000543024.1_5'UTR|SNX17_ENST00000542478.1_5'UTR|EIF2B4_ENST00000347454.4_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.Q63E	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	88	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTAGTTCGGCAAGACCCATT	0.527																																																0			2											116	104	108					2																	27596119		2203	4300	6503	27449623	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.262C>G	2.37:g.27596119C>G	ENSP00000233575:p.Gln88Glu		27449623	B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448555	0.84101	.	.	ENSG00000115234	ENST00000233575;ENST00000537606	T;T	0.39787	1.06;1.06	4.95	4.95	0.65309	Phox homologous domain (5);	0.174672	0.52532	D	0.000068	T	0.56307	0.1976	L	0.45228	1.405	0.80722	D	1	P;B;D;B	0.61080	0.623;0.03;0.989;0.403	B;B;D;B	0.68765	0.102;0.038;0.96;0.253	T	0.54860	-0.8230	10	0.48119	T	0.1	-5.0488	16.8931	0.86093	0.0:1.0:0.0:0.0	.	63;76;68;88	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	E	88;63	ENSP00000233575:Q88E;ENSP00000439208:Q63E	ENSP00000233575:Q88E	Q	+	1	0	SNX17	27449623	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.559000	0.73946	2.567000	0.86603	0.462000	0.41574	CAA		0.527	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		G	27596119	C	G	27596119	3	3	402	1	0	0	0	0	1	0	0	0	14891	711	25	3	276	3	SNX17	2	27596119	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	290602	27596119	215603254	9	22054											
BIRC6	57448	genome.wustl.edu	37	2	32660642	32660642	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr2:32660642A>C	ENST00000421745.2	+	14	3622	c.3488A>C	c.(3487-3489)gAg>gCg	p.E1163A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1163					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGGATGTAGAGGAATCACAG	0.413																																					Pancreas(94;175 1509 16028 18060 45422)											0			2											63	63	63					2																	32660642		2184	4252	6436	32514146	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3488A>C	2.37:g.32660642A>C	ENSP00000393596:p.Glu1163Ala		32514146	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942585	0.73672	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.12	5.12	0.69794	.	0.166914	0.37906	N	0.001882	T	0.79482	0.4453	L	0.35793	1.09	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.80705	-0.1263	10	0.52906	T	0.07	.	14.9376	0.70970	1.0:0.0:0.0:0.0	.	1163	Q9NR09	BIRC6_HUMAN	A	1163	ENSP00000393596:E1163A	ENSP00000393596:E1163A	E	+	2	0	BIRC6	32514146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.791000	0.91849	1.926000	0.55796	0.460000	0.39030	GAG		0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32660642	A	C	32660642	3	2	402	1	0	0	0	0	1	0	0	0	1438	304	11	5	3542	5	BIRC6	2	32660642	Missense_Mutation	SNP	A	TCGA-42-2589-01A-01D-1526-09	5064523	32660642	210538731	10	22055											
DCTN1	1639	genome.wustl.edu	37	2	74595991	74595991	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr2:74595991A>G	ENST00000361874.3	-	16	2035	c.1718T>C	c.(1717-1719)tTg>tCg	p.L573S	DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409868.1_Missense_Mutation_p.L556S|DCTN1_ENST00000394003.3_Missense_Mutation_p.L566S|DCTN1_ENST00000409438.1_Missense_Mutation_p.L439S|DCTN1_ENST00000407639.2_Missense_Mutation_p.L439S|DCTN1_ENST00000409240.1_Missense_Mutation_p.L536S|DCTN1_ENST00000409567.3_Missense_Mutation_p.L553S	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	573					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CATCTGCCTCAATTCCATCTC	0.557																																																0			2											94	84	87					2																	74595991		2203	4300	6503	74449499	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1718T>C	2.37:g.74595991A>G	ENSP00000354791:p.Leu573Ser		74449499	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362359	0.82353	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.65	5.65	0.86999	.	0.000000	0.34628	N	0.003820	D	0.96122	0.8736	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.998;0.999;0.996;0.998;0.994;0.994	D	0.96587	0.9435	10	0.87932	D	0	-3.3737	14.9931	0.71406	1.0:0.0:0.0:0.0	.	553;536;573;566;439;439	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	S	573;566;556;439;439;536;556;553	ENSP00000354791:L573S;ENSP00000377571:L566S;ENSP00000384844:L439S;ENSP00000387270:L439S;ENSP00000386406:L536S;ENSP00000387327:L556S;ENSP00000386843:L553S	ENSP00000354791:L573S	L	-	2	0	DCTN1	74449499	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	8.850000	0.92190	2.371000	0.80710	0.533000	0.62120	TTG		0.557	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		G	74595991	A	G	74595991	3	3	402	1	0	0	0	0	1	0	0	0	4306	131	5	4	2186	4	DCTN1	2	74595991	Missense_Mutation	SNP	A	TCGA-42-2589-01A-01D-1526-09	41935349	74595991	168603382	11	22056											
MCM6	4175	genome.wustl.edu	37	2	136616941	136616941	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr2:136616941G>A	ENST00000264156.2	-	9	1352	c.1292C>T	c.(1291-1293)gCa>gTa	p.A431V	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	431	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CACAACAGCTGCTGTTAAGCC	0.443																																					Ovarian(196;141 2104 8848 24991 25939)											0			2											99	89	92					2																	136616941		2203	4300	6503	136333411	SO:0001583	missense	4175				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1292C>T	2.37:g.136616941G>A	ENSP00000264156:p.Ala431Val		136333411	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	36	5.846156	0.97016	.	.	ENSG00000076003	ENST00000264156	T	0.11930	2.73	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.79614	2.46	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	T	0.14924	-1.0455	10	0.66056	D	0.02	-15.4807	20.2265	0.98340	0.0:0.0:1.0:0.0	.	431	Q14566	MCM6_HUMAN	V	431	ENSP00000264156:A431V	ENSP00000264156:A431V	A	-	2	0	MCM6	136333411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.381000	0.97205	2.769000	0.95229	0.655000	0.94253	GCA		0.443	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		A	136616941	G	A	136616941	3	1	402	1	0	0	0	0	1	0	0	0	9391	1319	46	2	1209	2	MCM6	2	136616941	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	62020950	136616941	106582432	12	22057											
COL3A1	1281	genome.wustl.edu	37	2	189866316	189866316	+	Splice_Site	SNP	G	G	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr2:189866316G>A	ENST00000304636.3	+	34	2561		c.e34+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGGTAGCCCTGTAAGTGTTAA	0.478																																																0			2											97	102	100					2																	189866316		2203	4300	6503	189574561	SO:0001630	splice_region_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2391+1G>A	2.37:g.189866316G>A			189574561	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Splice_Site	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947890	0.92593	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2744	0.94026	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL3A1	189574561	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.637000	0.89404	0.557000	0.71058	.		0.478	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	Intron	A	189866316	G	A	189866316	5	1	402	1	0	0	0	0	0	0	1	0	3688	1391	48	2	2526	2	COL3A1	2	189866316	Splice_Site	SNP	G	TCGA-42-2589-01A-01D-1526-09	53249375	189866316	53333057	13	22058											
CLK1	1195	genome.wustl.edu	37	2	201724423	201724423	+	Silent	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr2:201724423C>G	ENST00000321356.4	-	5	663	c.528G>C	c.(526-528)gtG>gtC	p.V176V	CLK1_ENST00000492793.1_5'Flank|CLK1_ENST00000434813.2_Silent_p.V218V|CLK1_ENST00000409769.2_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CGATGCACTCCACAACTTTTC	0.358																																																0			2											95	91	92					2																	201724423		2203	4300	6503	201432668	SO:0001819	synonymous_variant	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.528G>C	2.37:g.201724423C>G			201432668	B4DFW7|Q0P694|Q8N5V8	Silent	SNP	ENST00000321356.4	37	CCDS2331.1																																																																																				0.358	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			G	201724423	C	G	201724423	2	3	402	1	0	0	0	0	0	0	0	1	3536	581	21	3		3	CLK1	2	201724423	Silent	SNP	C	TCGA-42-2589-01A-01D-1526-09	11858107	201724423	41474950	14	22059											
ORC2L	4999	genome.wustl.edu	37	2	201790656	201790656	+	Splice_Site	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr2:201790656C>A	ENST00000234296.2	-	13	1300		c.e13-1		RN7SL694P_ENST00000584245.1_RNA	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						AATTCAGGACCTATATCATGA	0.308																																																0			2											119	113	115					2																	201790656		2203	4299	6502	201498901	SO:0001630	splice_region_variant	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1051-1G>T	2.37:g.201790656C>A			201498901	Q13204|Q53TX5	Splice_Site	SNP	ENST00000234296.2	37	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525918	0.64860	.	.	ENSG00000115942	ENST00000234296	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9106	0.92483	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ORC2	201498901	1.000000	0.71417	0.773000	0.31616	0.652000	0.38707	7.093000	0.76937	2.480000	0.83734	0.585000	0.79938	.		0.308	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190	Intron	A	201790656	C	A	201790656	5	1	402	1	0	0	0	0	0	0	1	0	11262	695	24	3	707	3	ORC2L	2	201790656	Splice_Site	SNP	C	TCGA-42-2589-01A-01D-1526-09	66233	201790656	41408717	15	22060											
AQP12B	653437	genome.wustl.edu	37	2	241622248	241622248	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr2:241622248C>G	ENST00000407834.3	-	1	69	c.7G>C	c.(7-9)Ggt>Cgt	p.G3R		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	3						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		ACGTTAAGACCTGCCATCGGC	0.657																																																0			2											65	74	71					2																	241622248		2173	4275	6448	241270921	SO:0001583	missense	285192			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.7G>C	2.37:g.241622248C>G	ENSP00000384894:p.Gly3Arg		241270921	A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	37	CCDS46560.1	.	.	.	.	.	.	.	.	.	.	.	2.566	-0.300666	0.05495	.	.	ENSG00000185176	ENST00000407834	T	0.54675	0.56	3.19	-2.41	0.06562	.	0.300406	0.36519	N	0.002551	T	0.54598	0.1868	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.47636	-0.9102	9	.	.	.	0.2964	4.1005	0.10012	0.1616:0.3869:0.0:0.4515	.	3	A6NM10-2	.	R	3	ENSP00000384894:G3R	.	G	-	1	0	AQP12B	241270921	0.240000	0.23847	0.028000	0.17463	0.246000	0.25737	1.284000	0.33249	-0.468000	0.06922	-0.361000	0.07541	GGT		0.657	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			G	241622248	C	G	241622248	3	3	402	1	0	0	0	0	1	0	0	0	825	681	24	3	928	3	AQP12B	2	241622248	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	39831592	241622248	1577125	16	22061											
MYRIP	25924	genome.wustl.edu	37	3	40231703	40231703	+	Silent	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr3:40231703C>T	ENST00000302541.6	+	10	1756	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	MYRIP_ENST00000396217.3_Silent_p.L383L|MYRIP_ENST00000539167.1_Silent_p.L285L|MYRIP_ENST00000425621.1_Silent_p.L472L|MYRIP_ENST00000444716.1_Silent_p.L472L|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	472	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCAGGCCAGACTGTCCTGGTT	0.622																																																0			3											65	70	68					3																	40231703		2203	4300	6503	40206707	SO:0001819	synonymous_variant	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1414C>T	3.37:g.40231703C>T			40206707	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	CCDS2689.1																																																																																				0.622	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		T	40231703	C	T	40231703	2	4	402	1	0	0	0	0	0	0	0	1	10100	564	20	2		2	MYRIP	3	40231703	Silent	SNP	C	TCGA-42-2589-01A-01D-1526-09		40231703	157790727	17	22062											
ALDH1L1	10840	genome.wustl.edu	37	3	125877469	125877469	+	Silent	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr3:125877469C>T	ENST00000393434.2	-	3	490	c.141G>A	c.(139-141)gaG>gaA	p.E47E	ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000393431.2_Silent_p.E47E|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000472186.1_Silent_p.E47E|ALDH1L1_ENST00000452905.2_Silent_p.E47E|ALDH1L1_ENST00000273450.3_Silent_p.E57E|U1_ENST00000606575.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	47	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTCCATCCTTCTCAGCTTCCA	0.577																																																0			3											89	86	87					3																	125877469		2203	4300	6503	127360159	SO:0001819	synonymous_variant	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.141G>A	3.37:g.125877469C>T			127360159	B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	CCDS3034.1																																																																																				0.577	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		T	125877469	C	T	125877469	2	4	402	1	0	0	0	0	0	0	0	1	494	912	32	2		2	ALDH1L1	3	125877469	Silent	SNP	C	TCGA-42-2589-01A-01D-1526-09	85645766	125877469	72144961	18	22063											
POLN	353497	genome.wustl.edu	37	4	2077203	2077203	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr4:2077203C>A	ENST00000511885.2	-	24	2784	c.2431G>T	c.(2431-2433)Gat>Tat	p.D811Y	POLN_ENST00000382865.1_Missense_Mutation_p.D811Y			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	811					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATCTGCGGATCTTCCACTTCA	0.627								DNA polymerases (catalytic subunits)																																								0			4											85	70	75					4																	2077203		2203	4300	6503	2047001	SO:0001583	missense	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2431G>T	4.37:g.2077203C>A	ENSP00000435506:p.Asp811Tyr		2047001	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.423|9.423	1.083569|1.083569	0.20309|0.20309	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313|ENST00000511098	D;D|.	0.96651|.	-4.08;-4.08|.	3.07|3.07	3.07|3.07	0.35406|0.35406	DNA-directed DNA polymerase, family A, palm domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.71392|0.71392	0.3334|0.3334	M|M	0.78801|0.78801	2.425|2.425	0.39362|0.39362	D|D	0.965946|0.965946	D;B|.	0.76494|.	0.999;0.142|.	D;B|.	0.69479|.	0.964;0.216|.	T|T	0.73613|0.73613	-0.3927|-0.3927	10|5	0.87932|.	D|.	0|.	-9.9919|-9.9919	9.8885|9.8885	0.41276|0.41276	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	502;811|.	E9PE06;Q7Z5Q5|.	.;DPOLN_HUMAN|.	Y|N	811;811;502|443	ENSP00000435506:D811Y;ENSP00000372316:D811Y|.	ENSP00000253313:D502Y|.	D|K	-|-	1|3	0|2	POLN|POLN	2047001|2047001	0.878000|0.878000	0.30173|0.30173	0.684000|0.684000	0.30055|0.30055	0.293000|0.293000	0.27360|0.27360	4.876000|4.876000	0.63079|0.63079	2.034000|2.034000	0.60081|0.60081	0.561000|0.561000	0.74099|0.74099	GAT|AAG		0.627	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		A	2077203	C	A	2077203	3	1	402	1	0	0	0	0	1	0	0	0	12207	913	32	3	283	3	POLN	4	2077203	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09		2077203	189077073	19	22064											
ARHGAP24	83478	genome.wustl.edu	37	4	86915767	86915767	+	Silent	SNP	G	G	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr4:86915767G>A	ENST00000395184.1	+	9	1426	c.960G>A	c.(958-960)gtG>gtA	p.V320V	ARHGAP24_ENST00000395183.2_Silent_p.V225V|ARHGAP24_ENST00000264343.4_Silent_p.V227V	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	320	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TGATGTCAGTGATGATTAGCA	0.393																																																0			4											172	169	170					4																	86915767		2203	4300	6503	87134791	SO:0001819	synonymous_variant	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.960G>A	4.37:g.86915767G>A			87134791	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	CCDS34025.1																																																																																				0.393	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		A	86915767	G	A	86915767	2	1	402	1	0	0	0	0	0	0	0	1	873	1277	45	2		2	ARHGAP24	4	86915767	Silent	SNP	G	TCGA-42-2589-01A-01D-1526-09	84838564	86915767	104238509	20	22065											
FAM13A	10144	genome.wustl.edu	37	4	89709064	89709064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr4:89709064G>A	ENST00000264344.5	-	10	1318	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	FAM13A_ENST00000513837.1_Nonsense_Mutation_p.R17*|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.R45*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.R45*|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.R31*|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	371					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACAGCTGATCGGATGGTTCTT	0.403																																																0			4											80	82	82					4																	89709064		2203	4300	6503	89928087	SO:0001587	stop_gained	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1111C>T	4.37:g.89709064G>A	ENSP00000264344:p.Arg371*		89928087	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	37	6.607430	0.97701	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	.	.	.	5.0	4.13	0.48395	.	0.062167	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5527	0.56236	0.0:0.0:0.5621:0.4379	.	.	.	.	X	45;371;31;45;17	.	ENSP00000264344:R371X	R	-	1	2	FAM13A	89928087	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.138000	0.42140	1.410000	0.46936	0.655000	0.94253	CGA		0.403	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			A	89709064	G	A	89709064	4	1	402	1	0	0	0	0	0	1	0	0	5452	1124	39	1	2020	1	FAM13A	4	89709064	Nonsense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	2793297	89709064	101445212	21	22066											
CDH18	1016	genome.wustl.edu	37	5	19483433	19483433	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr5:19483433A>T	ENST00000507958.1	-	14	2849	c.1859T>A	c.(1858-1860)cTt>cAt	p.L620H	CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.L620H|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.L620H			Q13634	CAD18_HUMAN	cadherin 18, type 2	620					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACACAGAGAAGAATAGCGAT	0.468																																																0			5											63	63	63					5																	19483433		2203	4300	6503	19519190	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1859T>A	5.37:g.19483433A>T	ENSP00000425093:p.Leu620His		19519190	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543512	0.86022	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.62941	-0.01;-0.01;-0.01	5.54	5.54	0.83059	.	0.068403	0.64402	D	0.000013	T	0.81394	0.4813	M	0.87381	2.88	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.84354	0.0534	9	.	.	.	.	14.505	0.67746	1.0:0.0:0.0:0.0	.	620	Q13634	CAD18_HUMAN	H	620	ENSP00000371710:L620H;ENSP00000425093:L620H;ENSP00000274170:L620H	.	L	-	2	0	CDH18	19519190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.113000	0.64589	0.533000	0.62120	CTT		0.468	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19483433	A	T	19483433	3	4	402	1	0	0	0	0	1	0	0	0	3103	72	3	5	521	5	CDH18	5	19483433	Missense_Mutation	SNP	A	TCGA-42-2589-01A-01D-1526-09		19483433	161431827	22	22067											
HCN1	348980	genome.wustl.edu	37	5	45262305	45262305	+	Silent	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr5:45262305C>T	ENST00000303230.4	-	8	2448	c.2391G>A	c.(2389-2391)gtG>gtA	p.V797V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	797					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCAGAGTGGACACCTCATGGG	0.637																																																0			5											54	52	53					5																	45262305		2203	4300	6503	45298062	SO:0001819	synonymous_variant	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2391G>A	5.37:g.45262305C>T			45298062		Silent	SNP	ENST00000303230.4	37	CCDS3952.1																																																																																				0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45262305	C	T	45262305	2	4	402	1	0	0	0	0	0	0	0	1	6996	465	17	2		2	HCN1	5	45262305	Silent	SNP	C	TCGA-42-2589-01A-01D-1526-09	25778872	45262305	135652955	23	22068											
DHX29	54505	genome.wustl.edu	37	5	54581243	54581243	+	Splice_Site	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr5:54581243C>T	ENST00000251636.5	-	10	1382	c.1234G>A	c.(1234-1236)Gtt>Att	p.V412I	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	412						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATTACCCTAACCCTACAAAGA	0.358																																																0			5											63	55	58					5																	54581243		2203	4300	6503	54617000	SO:0001630	splice_region_variant	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1233-1G>A	5.37:g.54581243C>T			54617000	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193801	0.78902	.	.	ENSG00000067248	ENST00000251636	T	0.03689	3.84	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.39482	-0.9612	10	0.07644	T	0.81	.	19.57	0.95407	0.0:1.0:0.0:0.0	.	412	Q7Z478	DHX29_HUMAN	I	412	ENSP00000251636:V412I	ENSP00000251636:V412I	V	-	1	0	DHX29	54617000	1.000000	0.71417	0.999000	0.59377	0.624000	0.37722	7.058000	0.76676	2.726000	0.93360	0.655000	0.94253	GTT		0.358	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	Missense_Mutation	T	54581243	C	T	54581243	5	4	402	1	0	0	0	0	0	0	1	0	4503	521	18	2	2947	2	DHX29	5	54581243	Splice_Site	SNP	C	TCGA-42-2589-01A-01D-1526-09	9318938	54581243	126334017	24	22069											
GPBP1	65056	genome.wustl.edu	37	5	56542978	56542978	+	Missense_Mutation	SNP	G	G	T	rs77944588		TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr5:56542978G>T	ENST00000506184.2	+	8	1845	c.740G>T	c.(739-741)gGc>gTc	p.G247V	GPBP1_ENST00000538707.1_Missense_Mutation_p.G254V|GPBP1_ENST00000424459.3_Missense_Mutation_p.G267V|GPBP1_ENST00000264779.6_Missense_Mutation_p.G254V|GPBP1_ENST00000454432.2_Missense_Mutation_p.G267V|GPBP1_ENST00000511209.1_Missense_Mutation_p.G254V|GPBP1_ENST00000514387.2_Missense_Mutation_p.G76V			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	247					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTTGGCGTTGGCAACTTTAAT	0.343																																																0			5						G	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	0,4406		0,0,2203	82	79	80		761,761,227,740	4.8	1	5	dbSNP_131	80	3,8597	3.0+/-9.4	1,1,4298	yes	missense,missense,missense,missense	GPBP1	NM_001127235.2,NM_001127236.2,NM_001203246.1,NM_022913.3	109,109,109,109	1,1,6501	TT,TG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	254/466,254/481,76/303,247/474	56542978	3,13003	2203	4300	6503	56578735	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.740G>T	5.37:g.56542978G>T	ENSP00000421202:p.Gly247Val		56578735	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807618	0.70797	0.0	3.49E-4	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.48522	1.82;0.81;1.83;1.82;1.86;1.83;1.83	5.68	4.8	0.61643	.	0.096519	0.64402	D	0.000001	T	0.57125	0.2032	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.959;1.0	D;D;P;D	0.97110	1.0;0.999;0.74;0.999	T	0.59685	-0.7408	10	0.52906	T	0.07	-8.7279	14.8792	0.70519	0.0:0.143:0.857:0.0	.	267;254;254;247	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	V	267;76;247;267;254;254;254	ENSP00000401596:G267V;ENSP00000421709:G76V;ENSP00000421202:G247V;ENSP00000403522:G267V;ENSP00000422337:G254V;ENSP00000264779:G254V;ENSP00000440090:G254V	ENSP00000264779:G254V	G	+	2	0	GPBP1	56578735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.040000	0.70980	1.375000	0.46248	0.655000	0.94253	GGC		0.343	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		T	56542978	G	T	56542978	3	4	402	1	0	0	0	0	1	0	0	0	6595	1203	42	3	787	3	GPBP1	5	56542978	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	1961735	56542978	124372282	25	22070											
KIFC1	3833	genome.wustl.edu	37	6	33371877	33371877	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr6:33371877G>A	ENST00000428849.2	+	6	1177	c.727G>A	c.(727-729)Gga>Aga	p.G243R		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	243					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AGAACGGAGGGGACTGATGTC	0.572																																																0			6											72	72	72					6																	33371877		2203	4300	6503	33479855	SO:0001583	missense	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.727G>A	6.37:g.33371877G>A	ENSP00000393963:p.Gly243Arg		33479855	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	4.785	0.145899	0.09134	.	.	ENSG00000237649	ENST00000428849	T	0.77358	-1.09	5.17	-0.537	0.11872	.	0.857758	0.10534	N	0.663433	T	0.40322	0.1112	L	0.51422	1.61	0.09310	N	1	B;B	0.33413	0.411;0.411	B;B	0.20955	0.032;0.032	T	0.13098	-1.0522	10	0.16896	T	0.51	-1.2294	4.9401	0.13961	0.3784:0.1514:0.4702:0.0	.	235;243	B4E063;Q9BW19	.;KIFC1_HUMAN	R	243	ENSP00000393963:G243R	ENSP00000393963:G243R	G	+	1	0	KIFC1	33479855	0.002000	0.14202	0.011000	0.14972	0.025000	0.11179	0.139000	0.16036	-0.304000	0.08843	-0.300000	0.09419	GGA		0.572	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		A	33371877	G	A	33371877	3	1	402	1	0	0	0	0	1	0	0	0	8312	1233	43	2	749	2	KIFC1	6	33371877	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09		33371877	137743190	26	22071											
C6orf1	221491	genome.wustl.edu	37	6	34214590	34214590	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr6:34214590A>C	ENST00000476320.1	-	5	863	c.181T>G	c.(181-183)Tca>Gca	p.S61A	C6orf1_ENST00000335352.3_Missense_Mutation_p.S41A|C6orf1_ENST00000413013.2_Missense_Mutation_p.S41A|C6orf1_ENST00000481533.1_Missense_Mutation_p.S61A|C6orf1_ENST00000394990.4_Missense_Mutation_p.S61A|C6orf1_ENST00000468145.1_Missense_Mutation_p.S61A	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	61						extracellular region (GO:0005576)				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		TCACGTCTTGACATCCAGCAG	0.647											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			6											30	30	30					6																	34214590		2201	4299	6500	34322568	SO:0001583	missense	221491			AY062936	CCDS4790.1, CCDS75433.1	6p21.3	2011-12-12			ENSG00000186577	ENSG00000186577			1340	protein-coding gene	gene with protein product		611419				10036196	Standard	NM_178508		Approved	LBH, MGC57858	uc003ojh.3	Q86T20	OTTHUMG00000159754	ENST00000476320.1:c.181T>G	6.37:g.34214590A>C	ENSP00000417604:p.Ser61Ala	846	34322568	A8K299	Missense_Mutation	SNP	ENST00000476320.1	37	CCDS4790.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421728	0.62622	.	.	ENSG00000186577	ENST00000476320;ENST00000335352;ENST00000394990;ENST00000481533;ENST00000413013;ENST00000468145	T;T;T;T;T;T	0.38077	1.17;1.16;1.17;1.17;1.16;1.17	5.4	5.4	0.78164	.	0.000000	0.27941	N	0.017227	T	0.25195	0.0612	N	0.08118	0	0.25523	N	0.987341	D	0.76494	0.999	D	0.78314	0.991	T	0.27020	-1.0086	10	0.87932	D	0	-8.7704	11.8289	0.52283	1.0:0.0:0.0:0.0	.	61	Q86T20	CF001_HUMAN	A	61;41;61;61;41;61	ENSP00000417604:S61A;ENSP00000334260:S41A;ENSP00000378441:S61A;ENSP00000418062:S61A;ENSP00000387460:S41A;ENSP00000418884:S61A	ENSP00000334260:S41A	S	-	1	0	C6orf1	34322568	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	4.137000	0.58010	2.061000	0.61500	0.454000	0.30748	TCA		0.647	C6orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357175.1	NM_178508		C	34214590	A	C	34214590	3	2	402	1	0	0	0	0	1	0	0	0	2316	275	10	5	302	5	C6orf1	6	34214590	Missense_Mutation	SNP	A	TCGA-42-2589-01A-01D-1526-09	842713	34214590	136900477	27	22072											
MCM3	4172	genome.wustl.edu	37	6	52143648	52143648	+	Splice_Site	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr6:52143648C>T	ENST00000229854.7	-	6	847	c.771G>A	c.(769-771)agG>agA	p.R257R	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000596288.1_Splice_Site_p.R302R|MCM3_ENST00000419835.2_Splice_Site_p.R211R			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	257					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TCAGGACAGTCCTGGGACAAA	0.438																																																0			6											71	67	69					6																	52143648		2203	4300	6503	52251607	SO:0001630	splice_region_variant	4172			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.771-1G>A	6.37:g.52143648C>T			52251607	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37																																																																																					0.438	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		Silent	T	52143648	C	T	52143648	5	4	402	1	0	0	0	0	0	0	1	0	9387	869	30	2	1703	2	MCM3	6	52143648	Splice_Site	SNP	C	TCGA-42-2589-01A-01D-1526-09	17929058	52143648	118971419	28	22073											
TINAG	27283	genome.wustl.edu	37	6	54191699	54191699	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr6:54191699C>A	ENST00000259782.4	+	4	705	c.609C>A	c.(607-609)agC>agA	p.S203R	TINAG_ENST00000370869.3_Missense_Mutation_p.S199R|TINAG_ENST00000370864.3_Missense_Mutation_p.S185R	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	203					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGCTCCTGAGCATGAATGAAA	0.383																																																0			6											136	120	126					6																	54191699		2203	4300	6503	54299658	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.609C>A	6.37:g.54191699C>A	ENSP00000259782:p.Ser203Arg		54299658	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521666	0.27211	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;D;T	0.83837	1.95;-1.77;1.96	5.7	-0.143	0.13444	.	0.593326	0.18756	N	0.132025	T	0.55847	0.1946	L	0.42245	1.32	0.31221	N	0.697517	B	0.09022	0.002	B	0.08055	0.003	T	0.35649	-0.9780	10	0.32370	T	0.25	.	7.0951	0.25305	0.0:0.628:0.1476:0.2244	.	203	Q9UJW2	TINAG_HUMAN	R	199;153;203;185	ENSP00000359906:S199R;ENSP00000259782:S203R;ENSP00000359901:S185R	ENSP00000259782:S203R	S	+	3	2	TINAG	54299658	0.949000	0.32298	1.000000	0.80357	0.961000	0.63080	-0.231000	0.09069	0.228000	0.21019	0.643000	0.83706	AGC		0.383	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		A	54191699	C	A	54191699	3	1	402	1	0	0	0	0	1	0	0	0	15921	709	25	3	623	3	TINAG	6	54191699	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	2048051	54191699	116923368	29	22074											
RTN4IP1	84816	genome.wustl.edu	37	6	107019950	107019950	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr6:107019950G>C	ENST00000369063.3	-	9	1577	c.1112C>G	c.(1111-1113)cCt>cGt	p.P371R	RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	371						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TTTAGAAAAAGGAAAGGTTTG	0.378																																																0			6											109	112	111					6																	107019950		2203	4300	6503	107126643	SO:0001583	missense	84816			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.1112C>G	6.37:g.107019950G>C	ENSP00000358059:p.Pro371Arg		107126643	Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183991	0.78677	.	.	ENSG00000130347	ENST00000369063	T	0.26810	1.71	6.02	5.1	0.69264	.	0.412595	0.29799	N	0.011169	T	0.41719	0.1171	M	0.86573	2.825	0.80722	D	1	D	0.60160	0.987	P	0.55303	0.773	T	0.45308	-0.9270	10	0.62326	D	0.03	-18.3881	15.1506	0.72696	0.0:0.1402:0.8598:0.0	.	371	Q8WWV3	RT4I1_HUMAN	R	371	ENSP00000358059:P371R	ENSP00000358059:P371R	P	-	2	0	RTN4IP1	107126643	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.133000	0.57983	2.857000	0.98124	0.650000	0.86243	CCT		0.378	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			C	107019950	G	C	107019950	3	2	402	1	0	0	0	0	1	0	0	0	13732	1000	35	3	82	3	RTN4IP1	6	107019950	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	52828251	107019950	64095117	30	22075											
FOXO3	2309	genome.wustl.edu	37	6	108882613	108882613	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr6:108882613G>T	ENST00000343882.6	+	2	506	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	FOXO3_ENST00000406360.1_Missense_Mutation_p.D68Y	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	68					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		AGACGACGAGGACGGCGGGGG	0.741																																																0			6											2	3	3					6																	108882613		1428	3057	4485	108989306	SO:0001583	missense	2309			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.202G>T	6.37:g.108882613G>T	ENSP00000339527:p.Asp68Tyr		108989306	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191359	0.38707	.	.	ENSG00000118689	ENST00000343882;ENST00000406360	D;D	0.91124	-2.79;-2.79	3.31	3.31	0.37934	.	.	.	.	.	T	0.74344	0.3704	L	0.29908	0.895	0.80722	D	1	B	0.33583	0.418	B	0.23574	0.047	T	0.78288	-0.2262	9	0.59425	D	0.04	-1.9191	9.322	0.37971	0.0:0.0:0.7854:0.2146	.	68	O43524	FOXO3_HUMAN	Y	68	ENSP00000339527:D68Y;ENSP00000385824:D68Y	ENSP00000339527:D68Y	D	+	1	0	FOXO3	108989306	0.948000	0.32251	0.999000	0.59377	0.897000	0.52465	3.888000	0.56204	1.849000	0.53698	0.462000	0.41574	GAC		0.741	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			T	108882613	G	T	108882613	3	4	402	1	0	0	0	0	1	0	0	0	6024	1174	41	3	204	3	FOXO3	6	108882613	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	1862663	108882613	62232454	31	22076											
MLL5	55904	genome.wustl.edu	37	7	104747842	104747842	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr7:104747842G>C	ENST00000311117.3	+	22	3483	c.2938G>C	c.(2938-2940)Ggg>Cgg	p.G980R	KMT2E_ENST00000334877.4_Missense_Mutation_p.G980R|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Missense_Mutation_p.G980R|KMT2E_ENST00000334914.7_Missense_Mutation_p.G35R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	980					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GTTAACATTGGGGCCTTTTAG	0.338																																																0			7											66	72	70					7																	104747842		2203	4300	6503	104535078	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2938G>C	7.37:g.104747842G>C	ENSP00000312379:p.Gly980Arg		104535078	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128246	0.77549	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.91686	-2.89;-2.53;-2.89;0.77	6.03	6.03	0.97812	.	0.283230	0.34555	N	0.003872	D	0.88005	0.6321	N	0.19112	0.55	0.32515	N	0.537013	D	0.56035	0.974	P	0.51135	0.66	D	0.88353	0.2982	10	0.45353	T	0.12	.	7.9333	0.29914	0.185:0.0:0.815:0.0	.	980	Q8IZD2	MLL5_HUMAN	R	980;980;980;900;980;35	ENSP00000312379:G980R;ENSP00000335599:G980R;ENSP00000257745:G980R;ENSP00000333986:G35R	ENSP00000257745:G980R	G	+	1	0	MLL5	104535078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.216000	0.65246	2.854000	0.98071	0.655000	0.94253	GGG		0.338	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			C	104747842	G	C	104747842	3	2	402	1	0	0	0	0	1	0	0	0	9624	1232	43	3	3016	3	MLL5	7	104747842	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09		104747842	54390821	32	22077											
DGKI	9162	genome.wustl.edu	37	7	137128829	137128829	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr7:137128829C>T	ENST00000288490.5	-	29	2779	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N	DGKI_ENST00000453654.2_Missense_Mutation_p.D596N|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.D909N|DGKI_ENST00000424189.2_Missense_Mutation_p.D940N	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	927					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTACCATGATCTTCTGAAGAG	0.294																																																0			7											59	57	58					7																	137128829		2200	4300	6500	136779369	SO:0001583	missense	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2779G>A	7.37:g.137128829C>T	ENSP00000288490:p.Asp927Asn		136779369	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633285	0.47049	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.32515	1.45;1.45;1.45	5.47	5.47	0.80525	Ankyrin repeat-containing domain (1);	0.495896	0.20439	N	0.092306	T	0.18551	0.0445	N	0.08118	0	0.41833	D	0.990083	B;B	0.19331	0.008;0.035	B;B	0.17433	0.007;0.018	T	0.06826	-1.0805	10	0.37606	T	0.19	.	14.8392	0.70212	0.0:1.0:0.0:0.0	.	596;927	E9PFX6;O75912	.;DGKI_HUMAN	N	596;844;930;927;909	ENSP00000392161:D596N;ENSP00000288490:D927N;ENSP00000399131:D909N	ENSP00000288490:D927N	D	-	1	0	DGKI	136779369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.868000	0.56055	2.569000	0.86673	0.650000	0.86243	GAT		0.294	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		T	137128829	C	T	137128829	3	4	402	1	0	0	0	0	1	0	0	0	4471	913	32	2	442	2	DGKI	7	137128829	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	32380987	137128829	22009834	33	22078											
NOS3	4846	genome.wustl.edu	37	7	150692311	150692311	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr7:150692311C>A	ENST00000484524.1	+	2	179	c.179C>A	c.(178-180)aCc>aAc	p.T60N	NOS3_ENST00000297494.3_Missense_Mutation_p.T60N|NOS3_ENST00000467517.1_Missense_Mutation_p.T60N|NOS3_ENST00000461406.1_5'UTR	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCCGCTAACCCAGCCCCCA	0.637																																																0			7											29	32	31					7																	150692311		2199	4293	6492	150323244	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.179C>A	7.37:g.150692311C>A	ENSP00000420215:p.Thr60Asn		150323244	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	c	5.411	0.260986	0.10239	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.14022	4.72;2.95;2.54	4.2	3.3	0.37823	.	0.458001	0.18295	N	0.145605	T	0.05686	0.0149	N	0.08118	0	0.30805	N	0.739455	B;B;B;B	0.27498	0.023;0.079;0.18;0.023	B;B;B;B	0.21546	0.014;0.035;0.035;0.014	T	0.21245	-1.0251	10	0.10902	T	0.67	-20.7492	9.3099	0.37898	0.0:0.8922:0.0:0.1078	.	60;60;60;60	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	N	60	ENSP00000297494:T60N;ENSP00000420215:T60N;ENSP00000420551:T60N	ENSP00000297494:T60N	T	+	2	0	NOS3	150323244	0.432000	0.25554	0.046000	0.18839	0.403000	0.30841	1.341000	0.33907	2.035000	0.60131	0.651000	0.88453	ACC		0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		A	150692311	C	A	150692311	3	1	402	1	0	0	0	0	1	0	0	0	10544	507	18	3	185	3	NOS3	7	150692311	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	13563482	150692311	8446352	34	22079											
PTK2B	2185	genome.wustl.edu	37	8	27255119	27255119	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr8:27255119G>T	ENST00000397501.1	+	7	826	c.18G>T	c.(16-18)gaG>gaT	p.E6D	PTK2B_ENST00000544172.1_Missense_Mutation_p.E6D|PTK2B_ENST00000420218.2_Missense_Mutation_p.E6D|PTK2B_ENST00000346049.5_Missense_Mutation_p.E6D|PTK2B_ENST00000517339.1_Missense_Mutation_p.E6D|PTK2B_ENST00000338238.4_Missense_Mutation_p.E6D	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	6					activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GGGTGTCCGAGCCCCTGAGTC	0.597																																																0			8											116	102	107					8																	27255119		2203	4300	6503	27311036	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.18G>T	8.37:g.27255119G>T	ENSP00000380638:p.Glu6Asp		27311036	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045773	0.55110	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000522338;ENST00000521164;ENST00000346049;ENST00000420218;ENST00000522517;ENST00000412793;ENST00000517339	T;T;T;T;T;T	0.75050	-0.9;-0.87;-0.9;-0.9;-0.87;-0.87	4.79	3.92	0.45320	.	0.120722	0.56097	D	0.000030	T	0.56834	0.2012	N	0.14661	0.345	0.32154	N	0.583903	B;B	0.24721	0.11;0.021	B;B	0.19946	0.027;0.014	T	0.64170	-0.6470	10	0.87932	D	0	.	10.5881	0.45294	0.0931:0.0:0.9069:0.0	.	6;6	Q14289-2;Q14289	.;FAK2_HUMAN	D	6;11;6;6;6;6;6;6;6;6;6	ENSP00000380638:E6D;ENSP00000342242:E6D;ENSP00000440926:E6D;ENSP00000332816:E6D;ENSP00000391995:E6D;ENSP00000427931:E6D	ENSP00000342242:E6D	E	+	3	2	PTK2B	27311036	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	2.036000	0.41165	1.251000	0.43983	0.655000	0.94253	GAG		0.597	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		T	27255119	G	T	27255119	3	4	402	1	0	0	0	0	1	0	0	0	12766	962	34	3	20	3	PTK2B	8	27255119	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09		27255119	119108903	35	22080											
KIAA1429	25962	genome.wustl.edu	37	8	95539310	95539310	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr8:95539310G>C	ENST00000297591.5	-	8	1237	c.1162C>G	c.(1162-1164)Ctc>Gtc	p.L388V	KIAA1429_ENST00000437199.1_Missense_Mutation_p.L388V|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L388V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	388					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAATCTAAGAGTTCTGTTAAC	0.333																																																0			8											140	145	143					8																	95539310		2203	4300	6503	95608486	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1162C>G	8.37:g.95539310G>C	ENSP00000297591:p.Leu388Val		95608486	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228803	0.39399	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.47177	0.87;0.86;0.85	5.74	2.89	0.33648	.	0.000000	0.64402	D	0.000002	T	0.58337	0.2115	L	0.57536	1.79	0.52099	D	0.999946	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.51537	-0.8693	10	0.30854	T	0.27	-6.542	8.0583	0.30619	0.3276:0.0:0.6724:0.0	.	388;388	Q69YN4-4;Q69YN4	.;VIR_HUMAN	V	388	ENSP00000297591:L388V;ENSP00000395600:L388V;ENSP00000398390:L388V	ENSP00000297591:L388V	L	-	1	0	KIAA1429	95608486	1.000000	0.71417	0.946000	0.38457	0.822000	0.46500	3.962000	0.56766	0.300000	0.22699	0.591000	0.81541	CTC		0.333	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		C	95539310	G	C	95539310	3	2	402	1	0	0	0	0	1	0	0	0	8231	1029	36	3	4398	3	KIAA1429	8	95539310	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	68284191	95539310	50824712	36	22081											
FAM84B	157638	genome.wustl.edu	37	8	127569045	127569045	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr8:127569045C>G	ENST00000304916.3	-	2	1045	c.590G>C	c.(589-591)aGc>aCc	p.S197T	FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000519880.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	197						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GTTGCGCCAGCTCAGCTCGCG	0.682																																																0			8											11	10	10					8																	127569045		2167	4231	6398	127638227	SO:0001583	missense	157638			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"breast cancer membrane-associated protein 101", "neurological/sensory 2"	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.590G>C	8.37:g.127569045C>G	ENSP00000302578:p.Ser197Thr		127638227		Missense_Mutation	SNP	ENST00000304916.3	37	CCDS6358.1	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068869	0.20147	.	.	ENSG00000168672	ENST00000304916	T	0.03035	4.07	4.86	4.86	0.63082	NC (1);	0.228407	0.49916	D	0.000138	T	0.08846	0.0219	M	0.63428	1.95	0.43137	D	0.994888	D	0.53619	0.961	P	0.53224	0.721	T	0.33727	-0.9857	10	0.20519	T	0.43	-27.8525	10.654	0.45665	0.0:0.9119:0.0:0.0881	.	197	Q96KN1	FA84B_HUMAN	T	197	ENSP00000302578:S197T	ENSP00000302578:S197T	S	-	2	0	FAM84B	127638227	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	4.078000	0.57606	2.240000	0.73641	0.460000	0.39030	AGC		0.682	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		G	127569045	C	G	127569045	3	3	402	1	0	0	0	0	1	0	0	0	5642	797	28	3	346	3	FAM84B	8	127569045	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	32029735	127569045	18794977	37	22082											
DMRT3	58524	genome.wustl.edu	37	9	990675	990675	+	Silent	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr9:990675C>A	ENST00000190165.2	+	2	1127	c.1089C>A	c.(1087-1089)ccC>ccA	p.P363P		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	363					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCCCTTTCCCCCAGCCACCCC	0.592																																																0			9											54	53	53					9																	990675		2203	4300	6503	980675	SO:0001819	synonymous_variant	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1089C>A	9.37:g.990675C>A			980675	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	CCDS6443.1																																																																																				0.592	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		A	990675	C	A	990675	2	1	402	1	0	0	0	0	0	0	0	1	4587	610	22	3		3	DMRT3	9	990675	Silent	SNP	C	TCGA-42-2589-01A-01D-1526-09		990675	140222756	38	22083											
IFNA14	3448	genome.wustl.edu	37	9	21239728	21239728	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr9:21239728G>T	ENST00000380222.2	-	1	250	c.207C>A	c.(205-207)aaC>aaA	p.N69K		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	69					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTGGAACTGGTTGCCATCAA	0.473																																																0			9											118	118	118					9																	21239728		2203	4300	6503	21229728	SO:0001583	missense	3448				CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"Interferons"	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.207C>A	9.37:g.21239728G>T	ENSP00000369571:p.Asn69Lys		21229728	Q5VZ56|Q7M4S1	Missense_Mutation	SNP	ENST00000380222.2	37	CCDS6501.1	.	.	.	.	.	.	.	.	.	.	g	4.844	0.156946	0.09236	.	.	ENSG00000228083	ENST00000380222	T	0.03152	4.03	3.38	1.04	0.20106	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.616840	0.02788	N	0.121662	T	0.06234	0.0161	L	0.49126	1.545	0.09310	N	1	B	0.15719	0.014	B	0.28784	0.094	T	0.46148	-0.9212	10	0.28530	T	0.3	.	7.0806	0.25229	0.1139:0.5543:0.3318:0.0	.	69	P01570	IFN14_HUMAN	K	69	ENSP00000369571:N69K	ENSP00000369571:N69K	N	-	3	2	IFNA14	21229728	0.000000	0.05858	0.014000	0.15608	0.199000	0.23934	-1.285000	0.02791	0.047000	0.15862	0.398000	0.26397	AAC		0.473	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		T	21239728	G	T	21239728	3	4	402	1	0	0	0	0	1	0	0	0	7534	1252	44	3	366	3	IFNA14	9	21239728	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	20249053	21239728	119973703	39	22084											
CBWD6	644019	genome.wustl.edu	37	9	69205457	69205457	+	Splice_Site	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr9:69205457C>G	ENST00000377457.5	-	14	1186	c.1081G>C	c.(1081-1083)Ggc>Cgc	p.G361R	CBWD6_ENST00000377449.1_Splice_Site_p.G325R|CBWD6_ENST00000382399.4_Splice_Site_p.G341R|CBWD6_ENST00000468061.1_5'UTR	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	361	CobW C-terminal.						ATP binding (GO:0005524)			lung(4)	4						TGAGACTTACCAATGAGGACC	0.413																																																0			9											13	13	13					9																	69205457		2096	4109	6205	68495277	SO:0001630	splice_region_variant	644019				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.1081+1G>C	9.37:g.69205457C>G			68495277		Missense_Mutation	SNP	ENST00000377457.5	37	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	12.77	2.037314	0.35989	.	.	ENSG00000204790	ENST00000377457;ENST00000377450;ENST00000377449;ENST00000382399	T;T;T	0.39229	1.09;1.09;1.09	2.63	2.63	0.31362	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal (4);	0.052698	0.85682	D	0.000000	T	0.68751	0.3035	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75587	-0.3266	10	0.87932	D	0	-29.2164	10.7134	0.45997	0.0:1.0:0.0:0.0	.	361	Q4V339	CBWD6_HUMAN	R	361;313;325;341	ENSP00000366677:G361R;ENSP00000366668:G325R;ENSP00000371836:G341R	ENSP00000366668:G325R	G	-	1	0	CBWD6	68495277	1.000000	0.71417	0.514000	0.27761	0.166000	0.22503	6.265000	0.72534	1.309000	0.44985	0.175000	0.17021	GGC		0.413	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822	Missense_Mutation	G	69205457	C	G	69205457	5	3	402	1	0	0	0	0	0	0	1	0	2716	608	21	3	114	3	CBWD6	9	69205457	Splice_Site	SNP	C	TCGA-42-2589-01A-01D-1526-09	47965729	69205457	72007974	40	22085											
A1CF	29974	genome.wustl.edu	37	10	52573743	52573743	+	Silent	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr10:52573743C>A	ENST00000373993.1	-	8	1265	c.1221G>T	c.(1219-1221)ctG>ctT	p.L407L	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Silent_p.L407L|A1CF_ENST00000374001.2_Silent_p.L399L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Silent_p.L407L|A1CF_ENST00000395489.2_Silent_p.L400L|A1CF_ENST00000395495.1_Silent_p.L352L|A1CF_ENST00000373997.3_Silent_p.L399L			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	407	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATCCTCGACCCAGGCCTGTGT	0.483																																																0			10											112	111	111					10																	52573743		2203	4300	6503	52243749	SO:0001819	synonymous_variant	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1221G>T	10.37:g.52573743C>A			52243749	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	CCDS7242.1																																																																																				0.483	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		A	52573743	C	A	52573743	2	1	402	1	0	0	0	0	0	0	0	1	2	581	21	3		3	A1CF	10	52573743	Silent	SNP	C	TCGA-42-2589-01A-01D-1526-09		52573743	82961004	41	22086											
C11orf42	160298	genome.wustl.edu	37	11	6231584	6231584	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr11:6231584G>C	ENST00000316375.2	+	2	627	c.577G>C	c.(577-579)Gtt>Ctt	p.V193L	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	193										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCATTACCTGTTGCCTTCTC	0.572																																																0			11											77	85	82					11																	6231584		2201	4296	6497	6188160	SO:0001583	missense	160298			BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.577G>C	11.37:g.6231584G>C	ENSP00000321021:p.Val193Leu		6188160		Missense_Mutation	SNP	ENST00000316375.2	37	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	4.757	0.140732	0.09083	.	.	ENSG00000180878	ENST00000316375	T	0.52057	0.68	5.13	-2.07	0.07276	.	0.858069	0.10078	N	0.718828	T	0.28962	0.0719	N	0.14661	0.345	0.23454	N	0.997646	B	0.19817	0.039	B	0.20384	0.029	T	0.23084	-1.0198	10	0.59425	D	0.04	0.0	9.6756	0.40039	0.6689:0.0:0.3311:0.0	.	193	Q8N5U0	CK042_HUMAN	L	193	ENSP00000321021:V193L	ENSP00000321021:V193L	V	+	1	0	C11orf42	6188160	0.549000	0.26481	0.967000	0.41034	0.777000	0.43975	-0.444000	0.06854	-0.612000	0.05701	-0.225000	0.12378	GTT		0.572	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		C	6231584	G	C	6231584	3	2	402	1	0	0	0	0	1	0	0	0	1641	1377	48	3	583	3	C11orf42	11	6231584	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09		6231584	128774932	42	22087											
DCHS1	8642	genome.wustl.edu	37	11	6644764	6644764	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr11:6644764C>T	ENST00000299441.3	-	21	8554	c.8143G>A	c.(8143-8145)Gtg>Atg	p.V2715M	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2715	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCGGCCACGCTGGTGCTG	0.577																																																0			11											55	47	49					11																	6644764		2201	4296	6497	6601340	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8143G>A	11.37:g.6644764C>T	ENSP00000299441:p.Val2715Met		6601340	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395387	0.62066	.	.	ENSG00000166341	ENST00000299441	T	0.58358	0.34	5.26	4.33	0.51752	Cadherin (3);Cadherin-like (1);	0.000000	0.31323	N	0.007855	T	0.50377	0.1612	M	0.86268	2.805	0.19575	N	0.999963	B	0.32365	0.367	B	0.29353	0.101	T	0.56565	-0.7958	10	0.54805	T	0.06	.	4.0968	0.09995	0.0804:0.1346:0.5381:0.2468	.	2715	Q96JQ0	PCD16_HUMAN	M	2715	ENSP00000299441:V2715M	ENSP00000299441:V2715M	V	-	1	0	DCHS1	6601340	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.868000	0.27982	1.477000	0.48234	-0.120000	0.15030	GTG		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6644764	C	T	6644764	3	4	402	1	0	0	0	0	1	0	0	0	4287	536	19	1	1757	1	DCHS1	11	6644764	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	413180	6644764	128361752	43	22088											
SOX6	55553	genome.wustl.edu	37	11	16068144	16068144	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr11:16068144C>A	ENST00000352083.6	-	12	1616	c.1539G>T	c.(1537-1539)gaG>gaT	p.E513D	SOX6_ENST00000316399.6_Missense_Mutation_p.E513D|SOX6_ENST00000528429.1_Missense_Mutation_p.E513D|SOX6_ENST00000527619.1_Missense_Mutation_p.E489D|SOX6_ENST00000528252.1_Missense_Mutation_p.E486D|SOX6_ENST00000396356.3_Missense_Mutation_p.E513D			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	513					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCTGCTGTTGCTCCCGCTGGA	0.502																																																0			11											129	112	118					11																	16068144		2200	4294	6494	16024720	SO:0001583	missense	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1539G>T	11.37:g.16068144C>A	ENSP00000339876:p.Glu513Asp		16024720	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	C	19.58	3.855172	0.71719	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98313	-4.75;-4.86;-4.75;-4.78;-4.78;-4.86	5.81	3.96	0.45880	.	0.098161	0.64402	D	0.000002	D	0.98444	0.9482	M	0.73217	2.22	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.982;0.99	D;P;D	0.72982	0.925;0.826;0.979	D	0.98001	1.0360	10	0.46703	T	0.11	.	11.462	0.50217	0.0:0.8013:0.0:0.1987	.	513;513;489	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	D	513;513;513;486;489;513	ENSP00000324948:E513D;ENSP00000339876:E513D;ENSP00000379644:E513D;ENSP00000432134:E486D;ENSP00000434455:E489D;ENSP00000433233:E513D	ENSP00000324948:E513D	E	-	3	2	SOX6	16024720	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.929000	0.28844	0.823000	0.34589	-0.198000	0.12761	GAG		0.502	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		A	16068144	C	A	16068144	3	1	402	1	0	0	0	0	1	0	0	0	14958	796	28	3	967	3	SOX6	11	16068144	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	9423380	16068144	118938372	44	22089											
FLRT1	28992	genome.wustl.edu	37	11	63885420	63885420	+	Intron	SNP	G	G	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr11:63885420G>C	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.V561L	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGCGGGGCAGTGGCTCTGGT	0.672																																																0			11											43	41	42					11																	63885420		2199	4297	6496	63641996	SO:0001627	intron_variant	23769			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33290C>G	11.37:g.63885420G>C			63641996	Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518404	0.27211	.	.	ENSG00000126500	ENST00000246841	T	0.60920	0.15	5.17	4.24	0.50183	.	0.216731	0.39341	N	0.001400	T	0.53916	0.1826	M	0.63843	1.955	0.32843	D	0.505664	B	0.28512	0.214	B	0.25759	0.063	T	0.66701	-0.5857	10	0.52906	T	0.07	-19.8083	13.7041	0.62627	0.0812:0.0:0.9187:0.0	.	533	Q9NZU1	FLRT1_HUMAN	L	561	ENSP00000246841:V561L	ENSP00000246841:V561L	V	+	1	0	FLRT1	63641996	1.000000	0.71417	0.946000	0.38457	0.522000	0.34438	5.356000	0.66052	2.584000	0.87258	0.655000	0.94253	GTG		0.672	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		C	63885420	G	C	63885420	1	2	402	0	1	0	0	0	0	0	0	0	5938	1029	36	3		3	FLRT1	11	63885420	Intron	SNP	G	TCGA-42-2589-01A-01D-1526-09	47817276	63885420	71121096	45	22090											
UBASH3B	84959	genome.wustl.edu	37	11	122671983	122671983	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr11:122671983C>A	ENST00000284273.5	+	11	1913	c.1538C>A	c.(1537-1539)gCa>gAa	p.A513E		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	513	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ACATTACCTGCATGGATACCT	0.473																																																0			11											176	167	170					11																	122671983		2202	4299	6501	122177193	SO:0001583	missense	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1538C>A	11.37:g.122671983C>A	ENSP00000284273:p.Ala513Glu		122177193	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356909	0.24598	.	.	ENSG00000154127	ENST00000284273	T	0.30448	1.53	5.47	5.47	0.80525	Histidine phosphatase superfamily, clade-1 (1);	0.212782	0.48286	D	0.000199	T	0.18425	0.0442	N	0.10707	0.03	0.58432	D	0.99999	P	0.41041	0.736	B	0.42062	0.374	T	0.04268	-1.0964	10	0.02654	T	1	-8.8139	18.9206	0.92523	0.0:1.0:0.0:0.0	.	513	Q8TF42	UBS3B_HUMAN	E	513	ENSP00000284273:A513E	ENSP00000284273:A513E	A	+	2	0	UBASH3B	122177193	0.981000	0.34729	0.660000	0.29694	0.773000	0.43773	4.665000	0.61547	2.544000	0.85801	0.655000	0.94253	GCA		0.473	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		A	122671983	C	A	122671983	3	1	402	1	0	0	0	0	1	0	0	0	16840	710	25	3	1580	3	UBASH3B	11	122671983	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	58786563	122671983	12334533	46	22091											
OR8A1	390275	genome.wustl.edu	37	11	124440870	124440870	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr11:124440870T>A	ENST00000284287.3	+	1	978	c.906T>A	c.(904-906)aaT>aaA	p.N302K		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	302					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCATGTTGAATCCCCTAATCT	0.448																																																0			11											74	67	70					11																	124440870		2201	4299	6500	123946080	SO:0001583	missense	390275			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.906T>A	11.37:g.124440870T>A	ENSP00000284287:p.Asn302Lys		123946080	Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.146987	0.37923	.	.	ENSG00000196119	ENST00000284287	T	0.59364	0.27	5.03	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000109	T	0.80210	0.4581	H	0.96748	3.875	0.43050	D	0.994656	D	0.67145	0.996	D	0.72982	0.979	T	0.79785	-0.1657	10	0.87932	D	0	.	6.4866	0.22093	0.0:0.5353:0.0:0.4647	.	302	Q8NGG7	OR8A1_HUMAN	K	302	ENSP00000284287:N302K	ENSP00000284287:N302K	N	+	3	2	OR8A1	123946080	0.989000	0.36119	0.999000	0.59377	0.206000	0.24218	0.314000	0.19432	0.549000	0.28973	-0.417000	0.06048	AAT		0.448	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		A	124440870	T	A	124440870	3	1	402	1	0	0	0	0	1	0	0	0	11225	1432	50	5	908	5	OR8A1	11	124440870	Missense_Mutation	SNP	T	TCGA-42-2589-01A-01D-1526-09	1768887	124440870	10565646	47	22092											
SCNN1A	6337	genome.wustl.edu	37	12	6483986	6483986	+	5'UTR	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr12:6483986C>A	ENST00000228916.2	-	0	62				SCNN1A_ENST00000543768.1_Missense_Mutation_p.E11D|LTBR_ENST00000539925.1_5'Flank|SCNN1A_ENST00000358945.3_5'UTR|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E47D|SCNN1A_ENST00000396966.2_5'Flank	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TAGGGTCCTGCTCCTCCAGCT	0.612																																																0			12											41	43	42					12																	6483986		2203	4300	6503	6354247	SO:0001623	5_prime_UTR_variant	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.-37G>T	12.37:g.6483986C>A			6354247	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	8.418	0.845804	0.16963	.	.	ENSG00000111319	ENST00000360168;ENST00000543768;ENST00000536788	T;T;D	0.86097	-0.78;-0.45;-2.07	2.94	1.04	0.20106	.	3.984550	0.00582	N	0.000333	T	0.73001	0.3531	N	0.08118	0	0.09310	N	0.999998	B;B	0.26445	0.092;0.149	B;B	0.29785	0.05;0.107	T	0.64529	-0.6386	10	0.49607	T	0.09	.	4.7136	0.12884	0.0:0.6864:0.0:0.3136	.	11;47	B4E2Q5;P37088-2	.;.	D	47;11;9	ENSP00000353292:E47D;ENSP00000438739:E11D;ENSP00000443434:E9D	ENSP00000353292:E47D	E	-	3	2	SCNN1A	6354247	0.004000	0.15560	0.009000	0.14445	0.143000	0.21401	0.302000	0.19192	0.556000	0.29098	-0.254000	0.11334	GAG		0.612	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			A	6483986	C	A	6483986	1	1	402	0	1	0	0	0	0	0	0	0	13930	796	28	3		3	SCNN1A	12	6483986	5'UTR	SNP	C	TCGA-42-2589-01A-01D-1526-09		6483986	127367909	48	22093											
ACVRL1	94	genome.wustl.edu	37	12	52307369	52307369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr12:52307369G>T	ENST00000388922.4	+	4	623	c.340G>T	c.(340-342)Gga>Tga	p.G114*	ACVRL1_ENST00000550683.1_Nonsense_Mutation_p.G128*|ACVRL1_ENST00000419526.2_Intron	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	114					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGCAGCCGGGAACAGATGG	0.687																																																0			12											18	18	18					12																	52307369		2202	4300	6502	50593636	SO:0001587	stop_gained	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.340G>T	12.37:g.52307369G>T	ENSP00000373574:p.Gly114*		50593636	A6NGA8	Nonsense_Mutation	SNP	ENST00000388922.4	37	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118624	0.56505	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683	.	.	.	5.63	-2.6	0.06190	.	3.096070	0.01189	N	0.007291	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	3.5289	0.07769	0.3215:0.179:0.413:0.0865	.	.	.	.	X	114;114;128	.	ENSP00000267008:G114X	G	+	1	0	ACVRL1	50593636	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.682000	0.05185	-0.951000	0.03654	-0.345000	0.07892	GGA		0.687	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			T	52307369	G	T	52307369	4	4	402	1	0	0	0	0	0	1	0	0	225	1233	43	3	350	3	ACVRL1	12	52307369	Nonsense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	45823383	52307369	81544526	49	22094											
GPR182	11318	genome.wustl.edu	37	12	57389741	57389741	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr12:57389741C>G	ENST00000300098.1	+	2	967	c.748C>G	c.(748-750)Caa>Gaa	p.Q250E	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	250					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCAGCCAGGACAACCCAAGAG	0.637																																																0			12											41	41	41					12																	57389741		2203	4300	6503	55676008	SO:0001583	missense	11318			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.748C>G	12.37:g.57389741C>G	ENSP00000300098:p.Gln250Glu		55676008		Missense_Mutation	SNP	ENST00000300098.1	37	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.445214	0.01089	.	.	ENSG00000166856	ENST00000300098	T	0.38722	1.12	4.13	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.637053	0.15353	N	0.266854	T	0.20495	0.0493	L	0.31476	0.935	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.25047	-1.0143	10	0.05959	T	0.93	.	1.7262	0.02922	0.1677:0.4932:0.1635:0.1756	.	250	O15218	GP182_HUMAN	E	250	ENSP00000300098:Q250E	ENSP00000300098:Q250E	Q	+	1	0	GPR182	55676008	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.670000	0.25157	0.132000	0.18615	0.561000	0.74099	CAA		0.637	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		G	57389741	C	G	57389741	3	3	402	1	0	0	0	0	1	0	0	0	6677	479	17	3	750	3	GPR182	12	57389741	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	5082372	57389741	76462154	50	22095											
TMEM194A	23306	genome.wustl.edu	37	12	57472511	57472511	+	Silent	SNP	T	T	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr12:57472511T>C	ENST00000300128.4	-	1	41	c.18A>G	c.(16-18)aaA>aaG	p.K6K	TMEM194A_ENST00000379391.3_Silent_p.K6K|TMEM194A_ENST00000553654.1_Intron	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	6						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGACCGCCACTTTCATTCCTC	0.642																																																0			12											52	61	58					12																	57472511		2194	4286	6480	55758778	SO:0001819	synonymous_variant	23306			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"transmembrane protein 194"	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.18A>G	12.37:g.57472511T>C			55758778	Q17R72|Q68DH0|Q6IQ25	Silent	SNP	ENST00000300128.4	37	CCDS44927.1																																																																																				0.642	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257		C	57472511	T	C	57472511	2	2	402	1	0	0	0	0	0	0	0	1	16116	1606	56	4		4	TMEM194A	12	57472511	Silent	SNP	T	TCGA-42-2589-01A-01D-1526-09	82770	57472511	76379384	51	22096											
PTPRR	5801	genome.wustl.edu	37	12	71078030	71078030	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr12:71078030C>G	ENST00000283228.2	-	10	1826	c.1374G>C	c.(1372-1374)aaG>aaC	p.K458N	PTPRR_ENST00000440835.2_Missense_Mutation_p.K213N|PTPRR_ENST00000549308.1_Missense_Mutation_p.K213N|PTPRR_ENST00000378778.1_Missense_Mutation_p.K252N|PTPRR_ENST00000342084.4_Missense_Mutation_p.K346N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	458	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGGCTTTCTCCTTGCCACTGT	0.443																																																0			12											97	86	90					12																	71078030		2203	4300	6503	69364297	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1374G>C	12.37:g.71078030C>G	ENSP00000283228:p.Lys458Asn		69364297	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111484	0.37242	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.71	0.263	0.15602	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.250149	0.26995	N	0.021448	T	0.70605	0.3243	L	0.31526	0.94	0.30576	N	0.763023	B;B;B;B	0.29646	0.253;0.056;0.126;0.02	B;B;B;B	0.23150	0.036;0.013;0.044;0.022	T	0.64647	-0.6358	10	0.72032	D	0.01	-3.2129	11.3387	0.49520	0.0:0.5585:0.0:0.4415	.	307;346;252;458	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	N	213;458;252;346;213	ENSP00000391750:K213N;ENSP00000283228:K458N;ENSP00000368054:K252N;ENSP00000339605:K346N;ENSP00000446943:K213N	ENSP00000283228:K458N	K	-	3	2	PTPRR	69364297	0.994000	0.37717	0.887000	0.34795	0.985000	0.73830	0.647000	0.24812	-0.263000	0.09378	-0.253000	0.11424	AAG		0.443	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		G	71078030	C	G	71078030	3	3	402	1	0	0	0	0	1	0	0	0	12813	680	24	3	619	3	PTPRR	12	71078030	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	13605519	71078030	62773865	52	22097											
PCCA	5095	genome.wustl.edu	37	13	100915018	100915018	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr13:100915018C>G	ENST00000376285.1	+	10	790	c.752C>G	c.(751-753)tCt>tGt	p.S251C	PCCA_ENST00000376279.3_Missense_Mutation_p.S251C|PCCA_ENST00000376286.4_Missense_Mutation_p.S225C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	251	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GAAGCTGCTTCTAGTTTTGGC	0.398																																																0			13											122	139	133					13																	100915018		2203	4300	6503	99713019	SO:0001583	missense	5095			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.752C>G	13.37:g.100915018C>G	ENSP00000365462:p.Ser251Cys		99713019	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375874	0.82682	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97455	-4.39;-4.39;-4.39	5.12	5.12	0.69794	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.97465	4.01	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.73380	0.98;0.967;0.98	D	0.99218	1.0878	10	0.87932	D	0	.	18.5495	0.91058	0.0:1.0:0.0:0.0	.	251;225;251	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	C	225;251;251	ENSP00000365463:S225C;ENSP00000365456:S251C;ENSP00000365462:S251C	ENSP00000365456:S251C	S	+	2	0	PCCA	99713019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.358000	0.79984	0.655000	0.94253	TCT		0.398	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			G	100915018	C	G	100915018	3	3	402	1	0	0	0	0	1	0	0	0	11504	913	32	3	790	3	PCCA	13	100915018	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09		100915018	14254860	53	22098											
FRMD6	122786	genome.wustl.edu	37	14	52186956	52186956	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr14:52186956C>T	ENST00000344768.5	+	11	1404	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	FRMD6_ENST00000554167.1_Missense_Mutation_p.P326L|FRMD6_ENST00000395718.2_Missense_Mutation_p.P395L|FRMD6_ENST00000356218.4_Missense_Mutation_p.P395L|FRMD6_ENST00000553556.1_Missense_Mutation_p.P45L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	403					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GACACCAAGCCCCGGGACACG	0.617																																																0			14											69	64	66					14																	52186956		2203	4300	6503	51256706	SO:0001583	missense	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1208C>T	14.37:g.52186956C>T	ENSP00000343899:p.Pro403Leu		51256706	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	3.319	-0.139101	0.06669	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197;ENST00000555703;ENST00000553556	T;T;T;T	0.76839	-1.05;-1.05;-0.82;-0.63	5.98	3.86	0.44501	.	0.086755	0.50627	D	0.000107	T	0.58366	0.2117	N	0.14661	0.345	0.50467	D	0.999877	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.002	T	0.52472	-0.8571	10	0.25106	T	0.35	.	8.8497	0.35192	0.1246:0.7313:0.0:0.144	.	326;403;395	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	L	395;395;403;326;133;45;45	ENSP00000348550:P395L;ENSP00000379068:P395L;ENSP00000343899:P403L;ENSP00000451977:P326L	ENSP00000343899:P403L	P	+	2	0	FRMD6	51256706	0.998000	0.40836	0.992000	0.48379	0.619000	0.37552	1.003000	0.29809	1.542000	0.49330	0.591000	0.81541	CCC		0.617	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		T	52186956	C	T	52186956	3	4	402	1	0	0	0	0	1	0	0	0	6054	623	22	2	1222	2	FRMD6	14	52186956	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09		52186956	55162584	54	22099											
RUNDC2A	92017	genome.wustl.edu	37	16	12145846	12145846	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr16:12145846C>A	ENST00000566228.1	+	8	960	c.891C>A	c.(889-891)gaC>gaA	p.D297E	SNX29_ENST00000323433.4_5'Flank|SNX29_ENST00000306030.3_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	297						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACAACTCCGACCGCTCCTCTG	0.493																																																0			16											66	76	73					16																	12145846		2197	4298	6495	12053347	SO:0001583	missense	84127			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.891C>A	16.37:g.12145846C>A	ENSP00000456480:p.Asp297Glu		12053347	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474653	0.26511	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	3.65	0.41850	.	0.125811	0.53938	D	0.000051	T	0.63343	0.2503	M	0.65975	2.015	0.80722	D	1	.	.	.	.	.	.	T	0.61108	-0.7129	7	0.30854	T	0.27	-23.4349	10.5327	0.44986	0.0:0.7865:0.0:0.2135	.	.	.	.	E	297	.	ENSP00000268271:D297E	D	+	3	2	RUNDC2A	12053347	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	1.173000	0.31920	1.520000	0.48965	0.462000	0.41574	GAC		0.493	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			A	12145846	C	A	12145846	3	1	402	1	0	0	0	0	1	0	0	0	13746	506	18	3	921	3	RUNDC2A	16	12145846	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09		12145846	78208907	55	22100											
LOC81691	81691	genome.wustl.edu	37	16	20839845	20839845	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr16:20839845C>G	ENST00000261377.6	+	11	1353	c.1144C>G	c.(1144-1146)Cat>Gat	p.H382D	AC004381.6_ENST00000564274.1_Missense_Mutation_p.H382D|AC004381.6_ENST00000348433.6_Missense_Mutation_p.H382D|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTTCCTTAAGCATGGCCCAAA	0.408																																																0			16											202	173	183					16																	20839845		2201	4300	6501	20747346	SO:0001583	missense	81691																														ENST00000261377.6:c.1144C>G	16.37:g.20839845C>G	ENSP00000261377:p.His382Asp		20747346		Missense_Mutation	SNP	ENST00000261377.6	37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952806	0.34471	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.32023	1.47;1.86	5.2	-0.0108	0.13995	Exonuclease (1);	0.581880	0.17927	N	0.157304	T	0.16342	0.0393	N	0.24115	0.695	0.19575	N	0.999965	B;B	0.20261	0.043;0.004	B;B	0.20767	0.031;0.007	T	0.13980	-1.0489	10	0.45353	T	0.12	-2.7915	4.0912	0.09970	0.2035:0.4927:0.0:0.3038	.	382;382	Q96IC2-2;Q96IC2	.;REXON_HUMAN	D	382	ENSP00000261378:H382D;ENSP00000261377:H382D	ENSP00000261377:H382D	H	+	1	0	AC004381.6	20747346	0.289000	0.24334	0.861000	0.33841	0.851000	0.48451	-0.043000	0.12043	0.010000	0.14839	-0.458000	0.05436	CAT		0.408	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			G	20839845	C	G	20839845	3	3	402	1	0	0	0	0	1	0	0	0	8890	710	25	3	1182	3	LOC81691	16	20839845	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	8693999	20839845	69514908	56	22101											
DNAH3	55567	genome.wustl.edu	37	16	20996443	20996443	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr16:20996443C>T	ENST00000261383.3	-	48	7620	c.7621G>A	c.(7621-7623)Gtt>Att	p.V2541I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2541	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGACTTCAACCTTCTCTCCT	0.473																																																0			16											73	61	65					16																	20996443		2201	4300	6501	20903944	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7621G>A	16.37:g.20996443C>T	ENSP00000261383:p.Val2541Ile		20903944	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	2.622	-0.288367	0.05605	.	.	ENSG00000158486	ENST00000261383	T	0.41065	1.01	5.13	1.56	0.23342	Dynein heavy chain, P-loop containing D4 domain (1);	0.375965	0.25887	N	0.027649	T	0.14313	0.0346	N	0.02539	-0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.17501	-1.0367	10	0.07325	T	0.83	.	8.774	0.34751	0.0:0.2279:0.0:0.7721	.	2541	Q8TD57	DYH3_HUMAN	I	2541	ENSP00000261383:V2541I	ENSP00000261383:V2541I	V	-	1	0	DNAH3	20903944	1.000000	0.71417	0.967000	0.41034	0.580000	0.36256	1.446000	0.35090	-0.012000	0.14223	-0.302000	0.09304	GTT		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20996443	C	T	20996443	3	4	402	1	0	0	0	0	1	0	0	0	4603	507	18	2	4788	2	DNAH3	16	20996443	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	156598	20996443	69358310	57	22102											
SETD1A	9739	genome.wustl.edu	37	16	30991352	30991352	+	Nonsense_Mutation	SNP	C	C	G	rs375584016		TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr16:30991352C>G	ENST00000262519.8	+	14	4931	c.4245C>G	c.(4243-4245)taC>taG	p.Y1415*		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1415	Interaction with CFP1.|Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						cccgcgccTACGAGCCACGCA	0.692																																																0			16											26	29	28					16																	30991352		2197	4299	6496	30898853	SO:0001587	stop_gained	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4245C>G	16.37:g.30991352C>G	ENSP00000262519:p.Tyr1415*		30898853	A6NP62|Q6PIF3|Q8TAJ6	Nonsense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	43	10.050729	0.99325	.	.	ENSG00000099381	ENST00000262519	.	.	.	4.06	-1.81	0.07882	.	0.245941	0.33834	N	0.004520	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	9.0409	0.36316	0.0:0.4011:0.0:0.5989	.	.	.	.	X	1415	.	ENSP00000262519:Y1415X	Y	+	3	2	SETD1A	30898853	0.225000	0.23685	0.223000	0.23860	0.006000	0.05464	-0.608000	0.05641	-0.181000	0.10619	-0.253000	0.11424	TAC		0.692	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		G	30991352	C	G	30991352	4	3	402	1	0	0	0	0	0	1	0	0	14133	547	19	3	4295	3	SETD1A	16	30991352	Nonsense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	9994909	30991352	59363401	58	22103											
GPR97	222487	genome.wustl.edu	37	16	57712216	57712216	+	Silent	SNP	G	G	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr16:57712216G>T	ENST00000333493.4	+	4	641	c.480G>T	c.(478-480)ggG>ggT	p.G160G	GPR97_ENST00000450388.3_Silent_p.G40G|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	160					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGGTCCAGGGACTCTCTTCA	0.587																																																0			16											104	93	97					16																	57712216		2198	4300	6498	56269717	SO:0001819	synonymous_variant	222487			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.480G>T	16.37:g.57712216G>T			56269717	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																				0.587	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		T	57712216	G	T	57712216	2	4	402	1	0	0	0	0	0	0	0	1	6720	1161	41	3		3	GPR97	16	57712216	Silent	SNP	G	TCGA-42-2589-01A-01D-1526-09	26720864	57712216	32642537	59	22104											
COG8	84342	genome.wustl.edu	37	16	69366758	69366758	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr16:69366758G>A	ENST00000306875.4	-	4	1555	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	PDF_ENST00000288022.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron|COG8_ENST00000562081.1_Missense_Mutation_p.R481C	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	481					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCTTCAGCGCGATGGAAGGCC	0.507																																																0			16											79	77	78					16																	69366758		2198	4300	6498	67924259	SO:0001583	missense	84342			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1441C>T	16.37:g.69366758G>A	ENSP00000305459:p.Arg481Cys		67924259	Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869364	0.72065	.	.	ENSG00000213380	ENST00000306875	T	0.52057	0.68	5.91	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.61722	0.893;0.893	T	0.71932	-0.4443	10	0.59425	D	0.04	-0.0021	15.5447	0.76090	0.0:0.0:0.8613:0.1387	.	508;481	B4DYU2;Q96MW5	.;COG8_HUMAN	C	481	ENSP00000305459:R481C	ENSP00000305459:R481C	R	-	1	0	COG8	67924259	1.000000	0.71417	0.994000	0.49952	0.312000	0.27988	6.296000	0.72751	2.802000	0.96397	0.655000	0.94253	CGC		0.507	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		A	69366758	G	A	69366758	3	1	402	1	0	0	0	0	1	0	0	0	3664	1058	37	1	405	1	COG8	16	69366758	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	11654542	69366758	20987995	60	22105											
HYDIN	54768	genome.wustl.edu	37	16	71096071	71096071	+	Splice_Site	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr16:71096071C>T	ENST00000393567.2	-	17	2527		c.e17+1		HYDIN_ENST00000448691.1_Splice_Site|HYDIN_ENST00000538248.1_Splice_Site|HYDIN_ENST00000321489.5_Splice_Site|HYDIN_ENST00000448089.2_Splice_Site|HYDIN_ENST00000541601.1_Splice_Site	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGACTCTCACCAAAGGGGGG	0.483																																																0			16											6	6	6					16																	71096071		2145	4231	6376	69653572	SO:0001630	splice_region_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2376+1G>A	16.37:g.71096071C>T			69653572	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Splice_Site	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846415	0.51164	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8303	0.85942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HYDIN	69653572	1.000000	0.71417	0.995000	0.50966	0.553000	0.35397	6.176000	0.71955	2.254000	0.74563	0.609000	0.83330	.		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		Intron	T	71096071	C	T	71096071	5	4	402	1	0	0	0	0	0	0	1	0	7467	521	18	2	13277	2	HYDIN	16	71096071	Splice_Site	SNP	C	TCGA-42-2589-01A-01D-1526-09	1729313	71096071	19258682	61	22106											
GAS8	2622	genome.wustl.edu	37	16	90109666	90109666	+	Silent	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr16:90109666C>T	ENST00000268699.4	+	11	1472	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	URAHP_ENST00000517889.1_RNA|GAS8_ENST00000536122.1_Silent_p.D425D	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	450					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		TCCCTCTGGACAACGTGGGCT	0.657																																																0			16											84	75	78					16																	90109666		2198	4300	6498	88637167	SO:0001819	synonymous_variant	2622			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1350C>T	16.37:g.90109666C>T			88637167	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	CCDS10992.1																																																																																				0.657	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			T	90109666	C	T	90109666	2	4	402	1	0	0	0	0	0	0	0	1	6251	477	17	2		2	GAS8	16	90109666	Silent	SNP	C	TCGA-42-2589-01A-01D-1526-09	19013595	90109666	245087	62	22107											
ZZEF1	23140	genome.wustl.edu	37	17	3921023	3921023	+	Splice_Site	SNP	G	G	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr17:3921023G>T	ENST00000381638.2	-	48	7767	c.7643C>A	c.(7642-7644)tCc>tAc	p.S2548Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2548							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCAGGCCGGGACTGCAAACC	0.577																																																0			17											80	80	80					17																	3921023		2203	4300	6503	3867772	SO:0001630	splice_region_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7642-1C>A	17.37:g.3921023G>T			3867772	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005632	0.74932	.	.	ENSG00000074755	ENST00000381638	T	0.24151	1.87	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	L	0.27053	0.805	0.54753	D	0.999989	D	0.59357	0.985	P	0.54460	0.753	T	0.02339	-1.1174	10	0.62326	D	0.03	-14.065	12.3029	0.54884	0.0774:0.0:0.9226:0.0	.	2548	O43149	ZZEF1_HUMAN	Y	2548	ENSP00000371051:S2548Y	ENSP00000371051:S2548Y	S	-	2	0	ZZEF1	3867772	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.690000	0.84178	2.482000	0.83794	0.650000	0.86243	TCC		0.577	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	Missense_Mutation	T	3921023	G	T	3921023	5	4	402	1	0	0	0	0	0	0	1	0	18255	1188	41	3	1274	3	ZZEF1	17	3921023	Splice_Site	SNP	G	TCGA-42-2589-01A-01D-1526-09		3921023	77274187	63	22108											
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578403	C	T	7578403	3	4	402	1	0	0	0	0	1	0	0	0	16381	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	3657380	7578403	73616807	64	22109											
PCGF2	7703	genome.wustl.edu	37	17	36891700	36891700	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr17:36891700C>G	ENST00000580830.1	-	12	1512	c.811G>C	c.(811-813)Gcc>Ccc	p.A271P	PCGF2_ENST00000585100.1_3'UTR|PCGF2_ENST00000578109.1_3'UTR|PCGF2_ENST00000360797.2_Missense_Mutation_p.A271P|PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000581345.1_Missense_Mutation_p.A271P			P35227	PCGF2_HUMAN	polycomb group ring finger 2	271	Pro/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GAGGAGGTGGCTGGCAGGGTG	0.701											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			17											19	16	17					17																	36891700		2189	4286	6475	34145226	SO:0001583	missense	7703			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.811G>C	17.37:g.36891700C>G	ENSP00000461961:p.Ala271Pro	866	34145226	A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334833	0.60853	.	.	ENSG00000056661	ENST00000360797	T	0.32023	1.47	4.92	3.96	0.45880	.	0.667250	0.13815	N	0.360821	T	0.18215	0.0437	N	0.19112	0.55	0.34365	D	0.691418	B	0.10296	0.003	B	0.08055	0.003	T	0.14924	-1.0455	10	0.35671	T	0.21	-31.5536	6.0484	0.19772	0.1866:0.7188:0.0:0.0945	.	271	P35227	PCGF2_HUMAN	P	271	ENSP00000354033:A271P	ENSP00000354033:A271P	A	-	1	0	PCGF2	34145226	0.027000	0.19231	0.996000	0.52242	0.953000	0.61014	0.563000	0.23547	1.311000	0.45024	0.561000	0.74099	GCC		0.701	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		G	36891700	C	G	36891700	3	3	402	1	0	0	0	0	1	0	0	0	11575	797	28	3	227	3	PCGF2	17	36891700	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09	29313297	36891700	44303510	65	22110											
KCNH4	23415	genome.wustl.edu	37	17	40332908	40332908	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr17:40332908G>T	ENST00000264661.3	-	1	388	c.56C>A	c.(55-57)gCc>gAc	p.A19D	KCNH4_ENST00000607371.1_Missense_Mutation_p.A19D	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	19	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A19D(1)|p.A19N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AAAACGGGTGGCGATGGTGTC	0.657																																					NSCLC(117;707 1703 2300 21308 31858)											2	Substitution - Missense(2)	lung(2)	17											112	106	108					17																	40332908		2203	4300	6503	37586434	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.56C>A	17.37:g.40332908G>T	ENSP00000264661:p.Ala19Asp		37586434		Missense_Mutation	SNP	ENST00000264661.3	37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425415	0.83667	.	.	ENSG00000089558	ENST00000264661	D	0.98937	-5.25	3.62	3.62	0.41486	PAS (2);	.	.	.	.	D	0.99174	0.9714	M	0.90650	3.135	0.58432	D	0.999996	D	0.76494	0.999	D	0.73380	0.98	D	0.99056	1.0829	9	0.72032	D	0.01	.	15.0727	0.72049	0.0:0.0:1.0:0.0	.	19	Q9UQ05	KCNH4_HUMAN	D	19	ENSP00000264661:A19D	ENSP00000264661:A19D	A	-	2	0	KCNH4	37586434	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.055000	0.64282	1.824000	0.53156	0.462000	0.41574	GCC		0.657	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		T	40332908	G	T	40332908	3	4	402	1	0	0	0	0	1	0	0	0	8034	1203	42	3	3061	3	KCNH4	17	40332908	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	3441208	40332908	40862302	66	22111											
AXIN2	8313	genome.wustl.edu	37	17	63554461	63554461	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr17:63554461T>A	ENST00000375702.5	-	1	386	c.278A>T	c.(277-279)tAc>tTc	p.Y93F	AXIN2_ENST00000307078.5_Missense_Mutation_p.Y93F|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	93	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TCGGAACAGGTAAGCACCGTC	0.547									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																							0			17											147	141	143					17																	63554461		2203	4300	6503	60984923	SO:0001583	missense	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.278A>T	17.37:g.63554461T>A	ENSP00000364854:p.Tyr93Phe		60984923	Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37		.	.	.	.	.	.	.	.	.	.	T	10.66	1.413203	0.25465	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.01902	4.57;4.57;4.57	4.91	4.91	0.64330	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.186758	0.47852	D	0.000219	T	0.02047	0.0064	N	0.14661	0.345	0.36745	D	0.882427	P;B;P	0.37594	0.601;0.102;0.601	B;B;B	0.36719	0.231;0.139;0.231	T	0.65150	-0.6238	10	0.39692	T	0.17	-13.2863	14.2325	0.65903	0.0:0.0:0.0:1.0	.	93;93;93	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	F	93	ENSP00000302625:Y93F;ENSP00000441151:Y93F;ENSP00000364854:Y93F	ENSP00000302625:Y93F	Y	-	2	0	AXIN2	60984923	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	4.054000	0.57434	1.836000	0.53414	0.454000	0.30748	TAC		0.547	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		A	63554461	T	A	63554461	3	1	402	1	0	0	0	0	1	0	0	0	1237	1638	57	5	2293	5	AXIN2	17	63554461	Missense_Mutation	SNP	T	TCGA-42-2589-01A-01D-1526-09	23221553	63554461	17640749	67	22112											
CPLX4	339302	genome.wustl.edu	37	18	56964052	56964052	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr18:56964052C>A	ENST00000299721.3	-	3	547	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	121					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.D121Y(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AGAATAGAATCTTTATCTTCT	0.418																																																1	Substitution - Missense(1)	large_intestine(1)	18											122	111	115					18																	56964052		2203	4300	6503	55115032	SO:0001583	missense	339302			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.361G>T	18.37:g.56964052C>A	ENSP00000299721:p.Asp121Tyr		55115032	F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726137	0.89298	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.087184	0.85682	D	0.000000	T	0.76828	0.4042	M	0.65498	2.005	0.80722	D	1	B	0.30104	0.268	P	0.44732	0.459	T	0.76479	-0.2944	9	0.72032	D	0.01	0.2791	19.3422	0.94347	0.0:1.0:0.0:0.0	.	121	Q7Z7G2	CPLX4_HUMAN	Y	121	.	ENSP00000299721:D121Y	D	-	1	0	CPLX4	55115032	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.723000	0.68492	2.653000	0.90120	0.561000	0.74099	GAT		0.418	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		A	56964052	C	A	56964052	3	1	402	1	0	0	0	0	1	0	0	0	3807	913	32	3	125	3	CPLX4	18	56964052	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09		56964052	21113196	68	22113											
CEACAM8	1088	genome.wustl.edu	37	19	43087447	43087447	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr19:43087447G>T	ENST00000244336.5	-	5	1102	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.A36D	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	334					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GCTGACAGTGGCTCTAGCTGA	0.463																																																0			19											97	87	90					19																	43087447		2203	4300	6503	47779287	SO:0001583	missense	1088			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.1001C>A	19.37:g.43087447G>T	ENSP00000244336:p.Ala334Asp		47779287	O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	g	8.087	0.773587	0.16051	.	.	ENSG00000124469	ENST00000244336	T	0.19938	2.11	1.7	1.7	0.24286	.	.	.	.	.	T	0.18593	0.0446	L	0.54323	1.7	0.09310	N	1	P	0.38922	0.651	B	0.36030	0.216	T	0.14783	-1.0460	9	0.56958	D	0.05	.	6.8426	0.23971	0.0:0.0:1.0:0.0	.	334	P31997	CEAM8_HUMAN	D	334	ENSP00000244336:A334D	ENSP00000244336:A334D	A	-	2	0	CEACAM8	47779287	0.003000	0.15002	0.051000	0.19133	0.094000	0.18550	0.413000	0.21148	1.268000	0.44264	0.305000	0.20034	GCC		0.463	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			T	43087447	G	T	43087447	3	4	402	1	0	0	0	0	1	0	0	0	3198	1203	42	3	52	3	CEACAM8	19	43087447	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09		43087447	16041536	69	22114											
BIRC8	112401	genome.wustl.edu	37	19	53793285	53793285	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr19:53793285G>C	ENST00000426466.1	-	1	1590	c.343C>G	c.(343-345)Cta>Gta	p.L115V		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	115					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GCTTCTTGTAGCATAGGATTA	0.383																																																0			19											213	205	207					19																	53793285		2203	4300	6503	58485097	SO:0001583	missense	112401			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.343C>G	19.37:g.53793285G>C	ENSP00000412957:p.Leu115Val		58485097	Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.875897	0.00062	.	.	ENSG00000163098	ENST00000426466	T	0.28069	1.63	0.502	-1.0	0.10196	.	.	.	.	.	T	0.06371	0.0164	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34601	-0.9822	8	0.02654	T	1	-3.7799	.	.	.	.	115	Q96P09	BIRC8_HUMAN	V	115	ENSP00000412957:L115V	ENSP00000412957:L115V	L	-	1	2	BIRC8	58485097	1.000000	0.71417	0.025000	0.17156	0.055000	0.15305	1.457000	0.35212	-0.396000	0.07703	0.420000	0.28162	CTA		0.383	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		C	53793285	G	C	53793285	3	2	402	1	0	0	0	0	1	0	0	0	1440	962	34	3	371	3	BIRC8	19	53793285	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	10705838	53793285	5335698	70	22115											
SIGLEC1	6614	genome.wustl.edu	37	20	3683957	3683957	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr20:3683957G>C	ENST00000344754.4	-	5	1114	c.1115C>G	c.(1114-1116)tCc>tGc	p.S372C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S372C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	372	Ig-like C2-type 3.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGGGTATGGGAGTGGGCATC	0.582																																																0			20											171	127	142					20																	3683957		2203	4300	6503	3631957	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1115C>G	20.37:g.3683957G>C	ENSP00000341141:p.Ser372Cys		3631957	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279928	0.23392	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.13196	2.61;2.61	5.2	0.439	0.16567	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.788553	0.10789	N	0.633972	T	0.39655	0.1086	M	0.85542	2.76	0.09310	N	1	P;P;P	0.52463	0.942;0.953;0.942	P;P;P	0.61874	0.881;0.895;0.831	T	0.43360	-0.9396	10	0.56958	D	0.05	.	16.0711	0.80936	0.0:0.6301:0.3699:0.0	.	372;372;372	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	C	372	ENSP00000341141:S372C;ENSP00000202578:S372C	ENSP00000202578:S372C	S	-	2	0	SIGLEC1	3631957	0.024000	0.19004	0.001000	0.08648	0.081000	0.17604	1.187000	0.32090	0.550000	0.28991	0.462000	0.41574	TCC		0.582	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		C	3683957	G	C	3683957	3	2	402	1	0	0	0	0	1	0	0	0	14308	1174	41	3	4082	3	SIGLEC1	20	3683957	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09		3683957	59341563	71	22116											
MATN4	8785	genome.wustl.edu	37	20	43926617	43926617	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr20:43926617G>A	ENST00000372754.1	-	8	1651	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V	MATN4_ENST00000342716.4_Missense_Mutation_p.A507V|MATN4_ENST00000353917.5_Missense_Mutation_p.A425V|MATN4_ENST00000537548.1_Missense_Mutation_p.A507V|MATN4_ENST00000372751.4_Missense_Mutation_p.A358V|MATN4_ENST00000360607.6_Missense_Mutation_p.A466V|MATN4_ENST00000372756.1_Missense_Mutation_p.A507V			O95460	MATN4_HUMAN	matrilin 4	548	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GAAGTCCGGGGCATAGGACAC	0.647																																																0			20											70	71	71					20																	43926617		2203	4300	6503	43360031	SO:0001583	missense	8785			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1643C>T	20.37:g.43926617G>A	ENSP00000361840:p.Ala548Val		43360031	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37		.	.	.	.	.	.	.	.	.	.	G	4.079	0.012609	0.07912	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.64	5.64	0.86602	.	0.167994	0.28688	N	0.014469	T	0.61961	0.2389	N	0.03324	-0.35	0.25457	N	0.987958	B;P;B	0.36616	0.055;0.561;0.101	B;B;B	0.41440	0.139;0.357;0.138	T	0.51608	-0.8684	10	0.11182	T	0.66	.	18.7456	0.91791	0.0:0.0:1.0:0.0	.	425;466;507	A6NNA4;O95460-4;O95460-2	.;.;.	V	358;548;507;425;466;507;507;548;358	ENSP00000361839:A358V;ENSP00000361840:A548V;ENSP00000361842:A507V;ENSP00000243983:A425V;ENSP00000353819:A466V;ENSP00000343164:A507V;ENSP00000440328:A507V;ENSP00000361837:A358V	ENSP00000255132:A548V	A	-	2	0	MATN4	43360031	1.000000	0.71417	0.998000	0.56505	0.186000	0.23388	5.518000	0.67068	2.661000	0.90470	0.644000	0.83932	GCC		0.647	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			A	43926617	G	A	43926617	3	1	402	1	0	0	0	0	1	0	0	0	9336	1203	42	2	237	2	MATN4	20	43926617	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	40242660	43926617	19098903	72	22117											
PCK1	5105	genome.wustl.edu	37	20	56138629	56138629	+	Silent	SNP	T	T	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr20:56138629T>A	ENST00000319441.4	+	6	971	c.807T>A	c.(805-807)ggT>ggA	p.G269G	PCK1_ENST00000535860.1_Silent_p.G137G|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	269					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGATTCTGGGTATAACCAACC	0.547																																																0			20											56	57	57					20																	56138629		2203	4300	6503	55572035	SO:0001819	synonymous_variant	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.807T>A	20.37:g.56138629T>A			55572035	A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	CCDS13460.1																																																																																				0.547	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			A	56138629	T	A	56138629	2	1	402	1	0	0	0	0	0	0	0	1	11581	1625	57	5		5	PCK1	20	56138629	Silent	SNP	T	TCGA-42-2589-01A-01D-1526-09	12212012	56138629	6886891	73	22118											
C21orf29	54084	genome.wustl.edu	37	21	45950952	45950952	+	Missense_Mutation	SNP	G	G	C	rs199858107	byFrequency	TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr21:45950952G>C	ENST00000323084.4	-	4	672	c.607C>G	c.(607-609)Cgg>Ggg	p.R203G	TSPEAR_ENST00000397916.1_Missense_Mutation_p.R135G	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	203	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCTCCTCCGGCTGCCGACG	0.587																																																0			21											73	60	64					21																	45950952		2203	4300	6503	44775380	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.607C>G	21.37:g.45950952G>C	ENSP00000321987:p.Arg203Gly		44775380		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702374	0.30232	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.41065	1.01;1.01	4.44	-0.0275	0.13926	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.048943	0.85682	D	0.000000	T	0.59783	0.2219	M	0.77616	2.38	0.50813	D	0.999894	D	0.89917	1.0	D	0.72982	0.979	T	0.61821	-0.6984	10	0.87932	D	0	6.601	10.8685	0.46869	0.0:0.0:0.3371:0.6629	.	203	Q8WU66	TSEAR_HUMAN	G	203;135;203	ENSP00000321987:R203G;ENSP00000381012:R135G	ENSP00000321987:R203G	R	-	1	2	TSPEAR	44775380	1.000000	0.71417	0.995000	0.50966	0.011000	0.07611	0.573000	0.23699	-0.012000	0.14223	-0.224000	0.12420	CGG		0.587	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		C	45950952	G	C	45950952	3	2	402	1	0	0	0	0	1	0	0	0	2124	1115	39	3	1438	3	C21orf29	21	45950952	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09		45950952	2178943	74	22119											
SUSD2	56241	genome.wustl.edu	37	22	24583177	24583177	+	Silent	SNP	C	C	T			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chr22:24583177C>T	ENST00000358321.3	+	11	1911	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	550	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAGGAATGTTCCTGTCGGTGG	0.672																																																0			22											67	64	65					22																	24583177		2203	4300	6503	22913177	SO:0001819	synonymous_variant	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1650C>T	22.37:g.24583177C>T			22913177	Q9H5Y6	Silent	SNP	ENST00000358321.3	37	CCDS13824.1																																																																																				0.672	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		T	24583177	C	T	24583177	2	4	402	1	0	0	0	0	0	0	0	1	15408	854	30	2		2	SUSD2	22	24583177	Silent	SNP	C	TCGA-42-2589-01A-01D-1526-09		24583177	26721389	75	22120											
FRMPD4	9758	genome.wustl.edu	37	X	12736742	12736742	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chrX:12736742C>A	ENST00000380682.1	+	16	4303	c.3797C>A	c.(3796-3798)cCt>cAt	p.P1266H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1266					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGAGAGCCCCTGGGCTTCCC	0.577																																																0			X											101	100	100					X																	12736742		2203	4300	6503	12646663	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3797C>A	X.37:g.12736742C>A	ENSP00000370057:p.Pro1266His		12646663	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	6.129	0.392112	0.11581	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05513	3.43	5.55	4.69	0.59074	.	1.229440	0.05366	N	0.534670	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	B;B	0.25809	0.135;0.135	B;B	0.30572	0.117;0.117	T	0.49762	-0.8905	10	0.72032	D	0.01	5.4785	13.4653	0.61249	0.0:0.9227:0.0:0.0773	.	1258;1266	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	H	1266;1257;1255	ENSP00000370057:P1266H	ENSP00000304583:P1255H	P	+	2	0	FRMPD4	12646663	0.003000	0.15002	0.020000	0.16555	0.616000	0.37450	1.376000	0.34306	1.101000	0.41535	0.600000	0.82982	CCT		0.577	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		A	12736742	C	A	12736742	3	1	402	1	0	0	0	0	1	0	0	0	6059	681	24	3	3859	3	FRMPD4	23	12736742	Missense_Mutation	SNP	C	TCGA-42-2589-01A-01D-1526-09		12736742	142533818	76	22121											
PORCN	64840	genome.wustl.edu	37	X	48375613	48375613	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chrX:48375613G>A	ENST00000326194.6	+	13	1259	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	PORCN_ENST00000361988.3_Missense_Mutation_p.A395T|PORCN_ENST00000359882.4_Missense_Mutation_p.A400T|PORCN_ENST00000355092.3_Missense_Mutation_p.A400T|PORCN_ENST00000537758.1_Missense_Mutation_p.A406T|PORCN_ENST00000355961.4_Missense_Mutation_p.A401T|PORCN_ENST00000367574.4_Missense_Mutation_p.A324T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	406					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGAGCTCTGGCCATCTTCCA	0.587																																																0			X											125	87	100					X																	48375613		2181	4237	6418	48260557	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1216G>A	X.37:g.48375613G>A	ENSP00000322304:p.Ala406Thr		48260557	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989428	0.53934	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.98120	-3.72;-4.73;-3.39;-3.73;-3.72;-4.73;-3.72	5.51	5.51	0.81932	.	0.114056	0.64402	D	0.000016	D	0.95996	0.8696	L	0.60455	1.87	0.53688	D	0.999973	B;B;B;B;B	0.29835	0.087;0.003;0.014;0.258;0.087	B;B;B;B;B	0.25987	0.065;0.039;0.026;0.065;0.065	D	0.94858	0.8019	10	0.34782	T	0.22	-1.6002	15.7043	0.77565	0.0:0.0:1.0:0.0	.	400;406;324;395;401	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	T	400;406;324;401;395;406;400	ENSP00000352946:A400T;ENSP00000446401:A406T;ENSP00000356546:A324T;ENSP00000348233:A401T;ENSP00000354978:A395T;ENSP00000322304:A406T;ENSP00000347207:A400T	ENSP00000322304:A406T	A	+	1	0	PORCN	48260557	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.345000	0.59360	2.305000	0.77605	0.508000	0.49915	GCC		0.587	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		A	48375613	G	A	48375613	3	1	402	1	0	0	0	0	1	0	0	0	12258	1203	42	2	1266	2	PORCN	23	48375613	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	35638871	48375613	106894947	77	22122											
ZMYM3	9203	genome.wustl.edu	37	X	70472829	70472829	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chrX:70472829G>C	ENST00000353904.2	-	2	464	c.277C>G	c.(277-279)Ccg>Gcg	p.P93A	ZMYM3_ENST00000373982.1_Missense_Mutation_p.P93A|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P93A|ZMYM3_ENST00000373998.1_Missense_Mutation_p.P93A|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P93A|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P93A|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P93A|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P93A|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	93					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCCACCTCCGGGGGAGAGGGG	0.642																																																0			X											18	19	18					X																	70472829		2202	4291	6493	70389554	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.277C>G	X.37:g.70472829G>C	ENSP00000343909:p.Pro93Ala		70389554	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	12.93	2.085397	0.36758	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	4.76	4.76	0.60689	.	0.116164	0.38605	N	0.001629	T	0.19525	0.0469	N	0.14661	0.345	0.34532	D	0.709277	B;B;B	0.32918	0.39;0.073;0.043	B;B;B	0.28991	0.097;0.025;0.011	T	0.30937	-0.9961	10	0.48119	T	0.1	-6.1679	15.2052	0.73173	0.0:0.0:1.0:0.0	.	93;93;93	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	A	93	ENSP00000322845:P93A;ENSP00000363110:P93A;ENSP00000343909:P93A;ENSP00000363096:P93A;ENSP00000363100:P93A;ENSP00000363094:P93A;ENSP00000363093:P93A;ENSP00000363090:P93A	ENSP00000322845:P93A	P	-	1	0	ZMYM3	70389554	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.905000	0.56333	2.204000	0.70986	0.287000	0.19450	CCG		0.642	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		C	70472829	G	C	70472829	3	2	402	1	0	0	0	0	1	0	0	0	17701	1232	43	3	3949	3	ZMYM3	23	70472829	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	22097216	70472829	84797731	78	22123											
ERCC6L	54821	genome.wustl.edu	37	X	71427733	71427733	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2589-01A-01D-1526-09	TCGA-42-2589-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b6d00ccc-315f-466f-af5b-0b2de560281d	7fd91650-78df-4d3f-b9a4-62e921b476a9	g.chrX:71427733G>C	ENST00000334463.3	-	2	1019	c.884C>G	c.(883-885)aCt>aGt	p.T295S	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.T172S	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	295					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTTGCTCTAGTAATAGGATT	0.363																																																0			X											63	64	63					X																	71427733		2203	4298	6501	71344458	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.884C>G	X.37:g.71427733G>C	ENSP00000334675:p.Thr295Ser		71344458	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602751	0.28534	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.93307	-3.2;-3.2	5.97	1.58	0.23477	SNF2-related (1);	.	.	.	.	D	0.89698	0.6790	L	0.28608	0.87	0.32264	N	0.569719	P	0.45428	0.858	P	0.49387	0.609	D	0.85714	0.1321	9	0.25106	T	0.35	-1.5363	8.4656	0.32953	0.4203:0.0:0.5797:0.0	.	295	Q2NKX8	ERC6L_HUMAN	S	172;295	ENSP00000362761:T172S;ENSP00000334675:T295S	ENSP00000334675:T295S	T	-	2	0	ERCC6L	71344458	1.000000	0.71417	0.976000	0.42696	0.951000	0.60555	4.773000	0.62331	0.121000	0.18284	0.600000	0.82982	ACT		0.363	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		C	71427733	G	C	71427733	3	2	402	1	0	0	0	0	1	0	0	0	5218	1029	36	3	2872	3	ERCC6L	23	71427733	Missense_Mutation	SNP	G	TCGA-42-2589-01A-01D-1526-09	954904	71427733	83842827	79	22124											
PIGV	55650	genome.wustl.edu	37	1	27124321	27124321	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:27124321C>G	ENST00000374145.1	+	4	2150	c.1468C>G	c.(1468-1470)Ctg>Gtg	p.L490V	PIGV_ENST00000078527.4_Missense_Mutation_p.L490V|PIGV_ENST00000449950.2_Missense_Mutation_p.L262V	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	490					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TTGCAACTTCCTGCCTTGGAC	0.488																																																0			1											95	91	92					1																	27124321		2203	4300	6503	26996908	SO:0001583	missense	55650			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	26031	protein-coding gene	gene with protein product	"GPI mannosyltransferase 2", "dol-P-Man dependent GPI mannosyltransferase"	610274	"phosphatidylinositol glycan, class V"			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.1468C>G	1.37:g.27124321C>G	ENSP00000363260:p.Leu490Val		26996908	D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	ENST00000374145.1	37	CCDS287.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581163	0.65992	.	.	ENSG00000060642	ENST00000078527;ENST00000449950;ENST00000374145	D;D;D	0.86230	-2.09;-2.09;-2.09	5.38	4.47	0.54385	.	0.075334	0.53938	D	0.000054	D	0.92848	0.7725	M	0.86953	2.85	0.47341	D	0.999398	D;D	0.69078	0.992;0.997	D;D	0.71870	0.937;0.975	D	0.92832	0.6281	9	.	.	.	-5.4927	8.8848	0.35396	0.0:0.7911:0.0:0.2089	.	490;262	Q9NUD9;B4DWP9	PIGV_HUMAN;.	V	490;262;490	ENSP00000078527:L490V;ENSP00000395156:L262V;ENSP00000363260:L490V	.	L	+	1	2	PIGV	26996908	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.643000	0.37217	1.502000	0.48669	0.462000	0.41574	CTG		0.488	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		G	27124321	C	G	27124321	3	3	403	1	0	0	0	0	1	0	0	0	11901	680	24	3	1478	3	PIGV	1	27124321	Missense_Mutation	SNP	C	TCGA-42-2590-01A-01D-1526-09		27124321	222126300	1	22125											
TRNAU1AP	54952	genome.wustl.edu	37	1	28891299	28891299	+	Silent	SNP	C	C	T	rs369255848		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:28891299C>T	ENST00000373830.3	+	5	389	c.363C>T	c.(361-363)ccC>ccT	p.P121P	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	121	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P121P(1)		breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						AAGTCTACCCCTCCTGTCGGG	0.507																																																1	Substitution - coding silent(1)	skin(1)	1						C		0,4406		0,0,2203	198	182	187		363	1.8	1	1		187	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRNAU1AP	NM_017846.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/288	28891299	1,13005	2203	4300	6503	28763886	SO:0001819	synonymous_variant	54952				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"RNA binding motif (RRM) containing"	30813	protein-coding gene	gene with protein product			"tRNA selenocysteine associated protein 1"	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.363C>T	1.37:g.28891299C>T			28763886	Q86SU7	Silent	SNP	ENST00000373830.3	37	CCDS324.1																																																																																				0.507	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		T	28891299	C	T	28891299	2	4	403	1	0	0	0	0	0	0	0	1	16572	668	24	2		2	TRNAU1AP	1	28891299	Silent	SNP	C	TCGA-42-2590-01A-01D-1526-09	1766978	28891299	220359322	2	22126											
TBX15	6913	genome.wustl.edu	37	1	119474281	119474281	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:119474281T>C	ENST00000369429.3	-	2	389	c.380A>G	c.(379-381)cAt>cGt	p.H127R	TBX15_ENST00000207157.3_Missense_Mutation_p.H21R			Q96SF7	TBX15_HUMAN	T-box 15	127					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCCAATATCATGGAACCGCTT	0.507																																																0			1											101	90	94					1																	119474281		2203	4300	6503	119275804	SO:0001583	missense	6913			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.380A>G	1.37:g.119474281T>C	ENSP00000358437:p.His127Arg		119275804	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37		.	.	.	.	.	.	.	.	.	.	T	23.4	4.408776	0.83340	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.81499	-1.5;-1.5	5.97	5.97	0.96955	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.096998	0.64402	D	0.000001	D	0.89891	0.6846	M	0.88512	2.96	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.91795	0.5447	10	0.87932	D	0	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	127	Q96SF7	TBX15_HUMAN	R	21;127	ENSP00000207157:H21R;ENSP00000358437:H127R	ENSP00000207157:H21R	H	-	2	0	TBX15	119275804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.641000	0.83368	2.285000	0.76669	0.477000	0.44152	CAT		0.507	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		C	119474281	T	C	119474281	3	2	403	1	0	0	0	0	1	0	0	0	15652	1464	51	4	1456	4	TBX15	1	119474281	Missense_Mutation	SNP	T	TCGA-42-2590-01A-01D-1526-09	90582982	119474281	129776340	3	22127											
DPT	1805	genome.wustl.edu	37	1	168698375	168698375	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:168698375A>T	ENST00000367817.3	-	1	127	c.38T>A	c.(37-39)gTc>gAc	p.V13D		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	13					cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GGCCATGGTGACTAGGGGCAG	0.502																																																0			1											49	44	46					1																	168698375		2203	4300	6503	166964999	SO:0001583	missense	1805			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.38T>A	1.37:g.168698375A>T	ENSP00000356791:p.Val13Asp		166964999	A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	A	8.977	0.974490	0.18736	.	.	ENSG00000143196	ENST00000367817	T	0.53206	0.63	5.08	1.55	0.23275	.	0.470845	0.23437	N	0.048195	T	0.21590	0.0520	L	0.44542	1.39	0.37592	D	0.920237	B	0.21753	0.06	B	0.28709	0.093	T	0.07578	-1.0765	9	0.72032	D	0.01	-15.4916	8.3354	0.32211	0.7654:0.0:0.2346:0.0	.	13	Q07507	DERM_HUMAN	D	13	ENSP00000356791:V13D	ENSP00000356791:V13D	V	-	2	0	DPT	166964999	0.900000	0.30661	0.007000	0.13788	0.377000	0.30045	2.235000	0.43044	0.278000	0.22164	0.533000	0.62120	GTC		0.502	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		T	168698375	A	T	168698375	3	4	403	1	0	0	0	0	1	0	0	0	4739	275	10	5	583	5	DPT	1	168698375	Missense_Mutation	SNP	A	TCGA-42-2590-01A-01D-1526-09	49224094	168698375	80552246	4	22128											
NFASC	23114	genome.wustl.edu	37	1	204956572	204956572	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:204956572G>C	ENST00000401399.1	+	21	2696	c.2497G>C	c.(2497-2499)Gtc>Ctc	p.V833L	NFASC_ENST00000338586.6_Missense_Mutation_p.V940L|NFASC_ENST00000367169.4_Missense_Mutation_p.V833L|NFASC_ENST00000338515.6_Missense_Mutation_p.V940L|NFASC_ENST00000339876.6_Missense_Mutation_p.V833L|NFASC_ENST00000404907.1_Missense_Mutation_p.V936L|NFASC_ENST00000539706.1_Missense_Mutation_p.V936L|NFASC_ENST00000360049.4_Missense_Mutation_p.V936L|NFASC_ENST00000367171.4_Missense_Mutation_p.V925L|NFASC_ENST00000404076.1_Missense_Mutation_p.V919L|NFASC_ENST00000513543.1_Missense_Mutation_p.V936L|NFASC_ENST00000367172.4_Missense_Mutation_p.V940L|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Missense_Mutation_p.V940L			O94856	NFASC_HUMAN	neurofascin	834	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCGTTTCCGAGTCCGGCAGCC	0.532																																																0			1											113	93	100					1																	204956572		2203	4300	6503	203223195	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2497G>C	1.37:g.204956572G>C	ENSP00000385637:p.Val833Leu		203223195	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.934|9.934	1.215667|1.215667	0.22373|0.22373	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173;ENST00000425360|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.59638	.|0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.57|5.57	4.66|4.66	0.58398|0.58398	.|Fibronectin, type III (5);Immunoglobulin-like fold (1);	.|0.143577	.|0.31577	.|N	.|0.007407	T|T	0.39436|0.39436	0.1078|0.1078	N|N	0.25647|0.25647	0.755|0.755	0.50039|0.50039	D|D	0.999848|0.999848	.|P;P;B;B;B;P;B	.|0.43231	.|0.662;0.511;0.158;0.008;0.226;0.801;0.019	.|B;B;B;B;B;B;B	.|0.37550	.|0.253;0.192;0.07;0.01;0.164;0.194;0.033	T|T	0.17471|0.17471	-1.0368|-1.0368	5|10	.|0.24483	.|T	.|0.36	.|.	9.4776|9.4776	0.38880|0.38880	0.2042:0.0:0.7958:0.0|0.2042:0.0:0.7958:0.0	.|.	.|940;951;936;833;925;833;936	.|O94856;O94856-11;O94856-8;O94856-4;F8W791;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.;.	D|L	802;64|940;925;940;940;833;940;951;936;936;833;919;833;936;936;927	.|ENSP00000356140:V940L;ENSP00000356139:V925L;ENSP00000356138:V940L;ENSP00000342128:V940L;ENSP00000344786:V833L;ENSP00000343509:V940L;ENSP00000438614:V936L;ENSP00000353154:V936L;ENSP00000356137:V833L;ENSP00000385676:V919L;ENSP00000385637:V833L;ENSP00000384061:V936L;ENSP00000425908:V936L;ENSP00000415031:V927L	.|ENSP00000295776:V951L	E|V	+|+	3|1	2|0	NFASC|NFASC	203223195|203223195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.000000|0.000000	0.00434|0.00434	5.002000|5.002000	0.63952|0.63952	1.367000|1.367000	0.46095|0.46095	-0.218000|-0.218000	0.12543|0.12543	GAG|GTC		0.532	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		C	204956572	G	C	204956572	3	2	403	1	0	0	0	0	1	0	0	0	10359	1029	36	3	2988	3	NFASC	1	204956572	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09	36258197	204956572	44294049	5	22129											
USH2A	7399	genome.wustl.edu	37	1	216348797	216348797	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:216348797A>T	ENST00000307340.3	-	21	4810	c.4424T>A	c.(4423-4425)gTt>gAt	p.V1475D	USH2A_ENST00000366942.3_Missense_Mutation_p.V1475D|USH2A_ENST00000366943.2_Missense_Mutation_p.V1475D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1475					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATTCCTTTAACCAGAGGTGG	0.408										HNSCC(13;0.011)																																						0			1											125	115	118					1																	216348797		2203	4300	6503	214415420	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4424T>A	1.37:g.216348797A>T	ENSP00000305941:p.Val1475Asp		214415420	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.465383	0.43839	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.58358	0.34;0.34;0.34	5.38	3.1	0.35709	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.185781	0.25514	U	0.030155	T	0.60521	0.2275	M	0.61703	1.905	0.20307	N	0.999919	D;D	0.58970	0.984;0.966	P;P	0.59056	0.851;0.691	T	0.49899	-0.8890	10	0.39692	T	0.17	.	8.3448	0.32266	0.7787:0.0:0.2213:0.0	.	1475;1475	O75445-2;O75445	.;USH2A_HUMAN	D	1475	ENSP00000305941:V1475D;ENSP00000355910:V1475D;ENSP00000355909:V1475D	ENSP00000305941:V1475D	V	-	2	0	USH2A	214415420	0.005000	0.15991	0.001000	0.08648	0.236000	0.25371	2.078000	0.41567	0.876000	0.35872	0.445000	0.29226	GTT		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216348797	A	T	216348797	3	4	403	1	0	0	0	0	1	0	0	0	17036	43	2	5	11406	5	USH2A	1	216348797	Missense_Mutation	SNP	A	TCGA-42-2590-01A-01D-1526-09	11392225	216348797	32901824	6	22130											
LEFTY1	10637	genome.wustl.edu	37	1	226076589	226076589	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:226076589G>T	ENST00000272134.5	-	1	257	c.178C>A	c.(178-180)Cag>Aag	p.Q60K	RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	60					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GCCACGTACTGGGCCCTCACG	0.697																																																0			1											31	33	33					1																	226076589		2203	4299	6502	224143212	SO:0001583	missense	10637			AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.178C>A	1.37:g.226076589G>T	ENSP00000272134:p.Gln60Lys		224143212	B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	CCDS1548.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.633006	0.00806	.	.	ENSG00000243709	ENST00000272134	T	0.65549	-0.16	4.18	1.92	0.25849	Transforming growth factor-beta, N-terminal (1);	0.209959	0.48767	D	0.000167	T	0.40839	0.1133	L	0.34521	1.04	0.25349	N	0.988884	B;B	0.13145	0.007;0.007	B;B	0.15870	0.014;0.014	T	0.14587	-1.0467	10	0.07644	T	0.81	.	6.5142	0.22239	0.0:0.1656:0.5211:0.3134	.	60;60	B2R7U0;O75610	.;LFTY1_HUMAN	K	60	ENSP00000272134:Q60K	ENSP00000272134:Q60K	Q	-	1	0	LEFTY1	224143212	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	1.670000	0.37502	1.895000	0.54865	0.313000	0.20887	CAG		0.697	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		T	226076589	G	T	226076589	3	4	403	1	0	0	0	0	1	0	0	0	8715	1357	47	3	938	3	LEFTY1	1	226076589	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09	9727792	226076589	23174032	7	22131											
CHRM3	1131	genome.wustl.edu	37	1	240070820	240070820	+	Silent	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:240070820C>T	ENST00000255380.4	+	5	848	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	23					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGATACACAGCCCCTCCGATG	0.537																																																0			1											71	69	70					1																	240070820		2203	4300	6503	238137443	SO:0001819	synonymous_variant	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.69C>T	1.37:g.240070820C>T			238137443	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	CCDS1616.1																																																																																				0.537	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		T	240070820	C	T	240070820	2	4	403	1	0	0	0	0	0	0	0	1	3378	738	26	2		2	CHRM3	1	240070820	Silent	SNP	C	TCGA-42-2590-01A-01D-1526-09	13994231	240070820	9179801	8	22132											
RTN4	57142	genome.wustl.edu	37	2	55252965	55252965	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr2:55252965G>A	ENST00000337526.6	-	3	2513	c.2270C>T	c.(2269-2271)cCa>cTa	p.P757L	RTN4_ENST00000357376.3_Missense_Mutation_p.P551L|RTN4_ENST00000394611.2_Missense_Mutation_p.P551L|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.P551L|RTN4_ENST00000404909.1_Missense_Mutation_p.P551L|RTN4_ENST00000354474.6_Missense_Mutation_p.P525L|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	757					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTGTTTTTGTGGAACGTCAGG	0.378																																																0			2											49	49	49					2																	55252965		2203	4299	6502	55106469	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2270C>T	2.37:g.55252965G>A	ENSP00000337838:p.Pro757Leu		55106469	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.283204	0.59867	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.23754	1.92;1.92;1.89;1.92;1.92;1.96	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.46405	0.1391	M	0.69823	2.125	0.45250	D	0.99825	D	0.76494	0.999	P	0.61874	0.895	T	0.42699	-0.9436	10	0.62326	D	0.03	-13.5588	12.7988	0.57573	0.0748:0.0:0.9252:0.0	.	757	Q9NQC3	RTN4_HUMAN	L	551;551;757;551;551;525	ENSP00000384471:P551L;ENSP00000349944:P551L;ENSP00000337838:P757L;ENSP00000378109:P551L;ENSP00000385650:P551L;ENSP00000346465:P525L	ENSP00000337838:P757L	P	-	2	0	RTN4	55106469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.541000	0.60670	2.587000	0.87381	0.655000	0.94253	CCA		0.378	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			A	55252965	G	A	55252965	3	1	403	1	0	0	0	0	1	0	0	0	13731	1348	47	2	1374	2	RTN4	2	55252965	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09		55252965	187946408	9	22133											
CLEC4F	165530	genome.wustl.edu	37	2	71043497	71043497	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr2:71043497T>A	ENST00000272367.2	-	4	1092	c.1016A>T	c.(1015-1017)aAa>aTa	p.K339I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.K339I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	339					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGTGACCATTTTCAAATCCCT	0.403																																					Colon(107;10 2157 6841 26035)											0			2											88	84	85					2																	71043497		2203	4300	6503	70897005	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1016A>T	2.37:g.71043497T>A	ENSP00000272367:p.Lys339Ile		70897005	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.385026	0.25031	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	D;D	0.81499	-1.5;-1.5	3.99	1.53	0.23141	.	0.157726	0.29676	N	0.011481	T	0.63200	0.2491	N	0.24115	0.695	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.54556	-0.8276	10	0.66056	D	0.02	.	4.0785	0.09916	0.0:0.1108:0.2112:0.678	.	339;339	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	I	339	ENSP00000272367:K339I;ENSP00000390581:K339I	ENSP00000272367:K339I	K	-	2	0	CLEC4F	70897005	0.341000	0.24801	0.047000	0.18901	0.004000	0.04260	0.807000	0.27140	0.326000	0.23384	0.383000	0.25322	AAA		0.403	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		A	71043497	T	A	71043497	3	1	403	1	0	0	0	0	1	0	0	0	3516	1841	64	5	769	5	CLEC4F	2	71043497	Missense_Mutation	SNP	T	TCGA-42-2590-01A-01D-1526-09	15790532	71043497	172155876	10	22134											
HS3ST1	9957	genome.wustl.edu	37	4	11401466	11401466	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr4:11401466G>A	ENST00000002596.5	-	2	1338	c.164C>T	c.(163-165)cCg>cTg	p.P55L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	55					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GATGGTCTGCGGCAACTGCTG	0.697																																																0			4											32	29	30					4																	11401466		2202	4298	6500	11010564	SO:0001583	missense	9957			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.164C>T	4.37:g.11401466G>A	ENSP00000002596:p.Pro55Leu		11010564	B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286759	0.80803	.	.	ENSG00000002587	ENST00000002596;ENST00000514690;ENST00000510712	T;T;T	0.66460	-0.21;-0.21;-0.21	5.57	5.57	0.84162	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92051	0.5648	10	0.87932	D	0	.	18.5452	0.91043	0.0:0.0:1.0:0.0	.	55	O14792	HS3S1_HUMAN	L	55	ENSP00000002596:P55L;ENSP00000425673:P55L;ENSP00000422629:P55L	ENSP00000002596:P55L	P	-	2	0	HS3ST1	11010564	1.000000	0.71417	0.993000	0.49108	0.671000	0.39405	9.869000	0.99810	2.630000	0.89119	0.655000	0.94253	CCG		0.697	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		A	11401466	G	A	11401466	3	1	403	1	0	0	0	0	1	0	0	0	7363	1116	39	1	763	1	HS3ST1	4	11401466	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09		11401466	179752810	11	22135											
DCAF4L1	285429	genome.wustl.edu	37	4	41984081	41984081	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr4:41984081A>C	ENST00000333141.5	+	1	369	c.272A>C	c.(271-273)cAg>cCg	p.Q91P		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	91										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GTAGTGAACCAGGTCGAAGTC	0.532																																																0			4											90	80	84					4																	41984081		2203	4300	6503	41678838	SO:0001583	missense	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.272A>C	4.37:g.41984081A>C	ENSP00000327796:p.Gln91Pro		41678838	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023419	0.35701	.	.	ENSG00000182308	ENST00000333141	T	0.38401	1.14	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.082799	0.85682	D	0.000000	T	0.17450	0.0419	N	0.22421	0.69	0.24431	N	0.994571	B	0.34241	0.444	B	0.19148	0.024	T	0.15723	-1.0427	9	0.72032	D	0.01	.	.	.	.	.	91	Q3SXM0	DC4L1_HUMAN	P	91	ENSP00000327796:Q91P	ENSP00000327796:Q91P	Q	+	2	0	DCAF4L1	41678838	1.000000	0.71417	0.231000	0.23993	0.486000	0.33341	5.090000	0.64498	0.530000	0.28619	0.260000	0.18958	CAG		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		C	41984081	A	C	41984081	3	2	403	1	0	0	0	0	1	0	0	0	4271	188	7	5	274	5	DCAF4L1	4	41984081	Missense_Mutation	SNP	A	TCGA-42-2590-01A-01D-1526-09	30582615	41984081	149170195	12	22136											
RASGRF2	5924	genome.wustl.edu	37	5	80504181	80504181	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr5:80504181T>C	ENST00000265080.4	+	22	3147	c.3080T>C	c.(3079-3081)cTt>cCt	p.L1027P	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1027	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGGGAGTTTCTTGGGCAGGGG	0.373																																																0			5											60	59	59					5																	80504181		2203	4300	6503	80539937	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3080T>C	5.37:g.80504181T>C	ENSP00000265080:p.Leu1027Pro		80539937	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128673	0.77549	.	.	ENSG00000113319	ENST00000265080	T	0.39406	1.08	5.67	5.67	0.87782	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.117651	0.64402	D	0.000014	T	0.75788	0.3897	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84236	0.0469	10	0.87932	D	0	.	15.5751	0.76373	0.0:0.0:0.0:1.0	.	1027	O14827	RGRF2_HUMAN	P	1027	ENSP00000265080:L1027P	ENSP00000265080:L1027P	L	+	2	0	RASGRF2	80539937	1.000000	0.71417	0.992000	0.48379	0.853000	0.48598	7.950000	0.87804	2.161000	0.67846	0.528000	0.53228	CTT		0.373	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		C	80504181	T	C	80504181	3	2	403	1	0	0	0	0	1	0	0	0	13076	1609	56	4	3166	4	RASGRF2	5	80504181	Missense_Mutation	SNP	T	TCGA-42-2590-01A-01D-1526-09		80504181	100411079	13	22137											
OR2Y1	134083	genome.wustl.edu	37	5	180166171	180166171	+	Silent	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr5:180166171C>A	ENST00000307832.2	-	1	928	c.888G>T	c.(886-888)gtG>gtT	p.V296V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCCCCCTTCACGTCCTTGT	0.403																																																0			5											91	101	98					5																	180166171		2203	4300	6503	180098777	SO:0001819	synonymous_variant	134083			AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.888G>T	5.37:g.180166171C>A			180098777	B9EIP1|Q6IFB1|Q96R16	Silent	SNP	ENST00000307832.2	37	CCDS34323.1																																																																																				0.403	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		A	180166171	C	A	180166171	2	1	403	1	0	0	0	0	0	0	0	1	11035	813	29	3		3	OR2Y1	5	180166171	Silent	SNP	C	TCGA-42-2590-01A-01D-1526-09	99661990	180166171	749089	14	22138											
EYS	346007	genome.wustl.edu	37	6	66044888	66044888	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr6:66044888T>A	ENST00000370621.3	-	11	2277	c.1751A>T	c.(1750-1752)gAa>gTa	p.E584V	EYS_ENST00000503581.1_Missense_Mutation_p.E584V|EYS_ENST00000370616.2_Missense_Mutation_p.E584V|EYS_ENST00000393380.2_Missense_Mutation_p.E584V|EYS_ENST00000370618.3_Missense_Mutation_p.E584V|EYS_ENST00000342421.5_Missense_Mutation_p.E584V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	584	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTATTAATTTCATCTTTACA	0.323																																																0			6											155	145	149					6																	66044888		2203	4300	6503	66101609	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1751A>T	6.37:g.66044888T>A	ENSP00000359655:p.Glu584Val		66101609	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	t	11.18	1.562333	0.27915	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;D;D;D	0.81996	1.9;1.9;1.9;-1.56;-1.56;-1.56	3.41	-1.09	0.09904	.	.	.	.	.	T	0.36026	0.0952	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.33318	0.194;0.408;0.286	B;B;B	0.28784	0.031;0.094;0.043	T	0.28459	-1.0043	9	0.27082	T	0.32	.	2.2758	0.04102	0.2475:0.3646:0.0:0.3879	.	584;584;584	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	584	ENSP00000424243:E584V;ENSP00000359655:E584V;ENSP00000359650:E584V;ENSP00000377042:E584V;ENSP00000341818:E584V;ENSP00000359652:E584V	ENSP00000341818:E584V	E	-	2	0	EYS	66101609	0.975000	0.34042	0.015000	0.15790	0.481000	0.33189	-0.077000	0.11394	-0.038000	0.13624	-0.415000	0.06103	GAA		0.323	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	66044888	T	A	66044888	3	1	403	1	0	0	0	0	1	0	0	0	5332	1783	62	5	7777	5	EYS	6	66044888	Missense_Mutation	SNP	T	TCGA-42-2590-01A-01D-1526-09		66044888	105070179	15	22139											
ZNF12	7559	genome.wustl.edu	37	7	6731854	6731854	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr7:6731854G>T	ENST00000405858.1	-	5	1260	c.719C>A	c.(718-720)cCc>cAc	p.P240H	AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.P166H|ZNF12_ENST00000342651.5_Missense_Mutation_p.P202H	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	240					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCACTTATAGGGCTTTTCTTC	0.378																																																0			7											52	55	54					7																	6731854		2045	4237	6282	6698379	SO:0001583	missense	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.719C>A	7.37:g.6731854G>T	ENSP00000385939:p.Pro240His		6698379	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878693	0.72294	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.65178	-0.14;1.3;1.3	4.03	4.03	0.46877	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42821	D	0.000649	T	0.70002	0.3174	M	0.62154	1.92	0.44825	D	0.997836	D;D	0.71674	0.998;0.995	P;P	0.54759	0.76;0.737	T	0.74914	-0.3502	10	0.87932	D	0	.	14.4789	0.67567	0.0:0.0:1.0:0.0	.	240;202	P17014;P17014-5	ZNF12_HUMAN;.	H	166;240;202;298;204	ENSP00000384405:P166H;ENSP00000385939:P240H;ENSP00000344745:P202H	ENSP00000331039:P204H	P	-	2	0	ZNF12	6698379	0.998000	0.40836	0.948000	0.38648	0.997000	0.91878	3.672000	0.54583	2.531000	0.85337	0.563000	0.77884	CCC		0.378	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		T	6731854	G	T	6731854	3	4	403	1	0	0	0	0	1	0	0	0	17718	1232	43	3	1378	3	ZNF12	7	6731854	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09		6731854	152406809	16	22140											
SRRT	51593	genome.wustl.edu	37	7	100479699	100479699	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr7:100479699C>A	ENST00000347433.4	+	5	582	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	SRRT_ENST00000432932.1_Missense_Mutation_p.L142M|SRRT_ENST00000457580.2_Missense_Mutation_p.L142M|SRRT_ENST00000388793.4_Missense_Mutation_p.L142M			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	142					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAGATTGACCTGGGTGTGCC	0.597																																																0			7											93	90	91					7																	100479699		2203	4300	6503	100317635	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.424C>A	7.37:g.100479699C>A	ENSP00000314491:p.Leu142Met		100317635	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157322	0.09236	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000539682;ENST00000432932;ENST00000347433	.	.	.	4.77	-4.63	0.03359	.	0.000000	0.53938	D	0.000056	T	0.37376	0.1001	L	0.40543	1.245	0.42695	D	0.993592	P;P;P;P	0.50943	0.94;0.94;0.94;0.901	B;B;B;B	0.44108	0.441;0.441;0.441;0.256	T	0.34378	-0.9831	9	0.46703	T	0.11	.	7.9604	0.30068	0.1166:0.537:0.0:0.3464	.	142;142;142;142	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	M	142;142;57;142;142	.	ENSP00000314491:L142M	L	+	1	2	SRRT	100317635	0.026000	0.19158	0.667000	0.29798	0.011000	0.07611	0.020000	0.13466	-1.176000	0.02747	-0.311000	0.09066	CTG		0.597	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		A	100479699	C	A	100479699	3	1	403	1	0	0	0	0	1	0	0	0	15174	680	24	3	438	3	SRRT	7	100479699	Missense_Mutation	SNP	C	TCGA-42-2590-01A-01D-1526-09	93747845	100479699	58658964	17	22141											
MLL5	55904	genome.wustl.edu	37	7	104747164	104747164	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr7:104747164A>G	ENST00000311117.3	+	20	3337	c.2792A>G	c.(2791-2793)tAt>tGt	p.Y931C	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.Y931C|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.Y931C	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	931					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AAACCCATATATTCACCAGTT	0.408																																																0			7											110	118	115					7																	104747164		2203	4300	6503	104534400	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2792A>G	7.37:g.104747164A>G	ENSP00000312379:p.Tyr931Cys		104534400	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905713	0.52333	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93488	-3.23;-2.78;-3.23	5.34	5.34	0.76211	.	0.083397	0.49305	D	0.000147	D	0.93423	0.7902	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	D	0.94268	0.7508	10	0.59425	D	0.04	.	15.3077	0.74004	1.0:0.0:0.0:0.0	.	931	Q8IZD2	MLL5_HUMAN	C	931;931;931;851;931	ENSP00000312379:Y931C;ENSP00000335599:Y931C;ENSP00000257745:Y931C	ENSP00000257745:Y931C	Y	+	2	0	MLL5	104534400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.414000	0.73318	2.015000	0.59207	0.477000	0.44152	TAT		0.408	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			G	104747164	A	G	104747164	3	3	403	1	0	0	0	0	1	0	0	0	9624	449	16	4	2862	4	MLL5	7	104747164	Missense_Mutation	SNP	A	TCGA-42-2590-01A-01D-1526-09	4267465	104747164	54391499	18	22142											
POLB	5423	genome.wustl.edu	37	8	42214856	42214856	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr8:42214856G>C	ENST00000265421.4	+	9	666	c.496G>C	c.(496-498)Gtt>Ctt	p.V166L	POLB_ENST00000538005.1_Missense_Mutation_p.V12L	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	166					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACTAAATGAAGTTAAAAAAGT	0.318								DNA polymerases (catalytic subunits)																																								0			8											70	70	70					8																	42214856		2202	4294	6496	42334013	SO:0001583	missense	5423				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.496G>C	8.37:g.42214856G>C	ENSP00000265421:p.Val166Leu		42334013	B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	CCDS6129.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.25|11.25|11.25	1.584318|1.584318|1.584318	0.28268|0.28268|0.28268	.|.|.	.|.|.	ENSG00000070501|ENSG00000070501|ENSG00000070501	ENST00000518579|ENST00000521290|ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005	.|.|T;T;T;T	.|.|0.39229	.|.|1.09;1.09;1.09;1.59	5.82|5.82|5.82	3.99|3.99|3.99	0.46301|0.46301|0.46301	.|.|DNA-directed DNA polymerase X (1);	.|.|0.189632	.|.|0.47093	.|.|D	.|.|0.000257	T|T|T	0.20414|0.20414|0.20414	0.0491|0.0491|0.0491	N|N|N	0.05280|0.05280|0.05280	-0.08|-0.08|-0.08	0.31075|0.31075|0.31075	N|N|N	0.712585|0.712585|0.712585	.|.|B;B	.|.|0.06786	.|.|0.0;0.001	.|.|B;B	.|.|0.04013	.|.|0.001;0.0	T|T|T	0.12477|0.12477|0.12477	-1.0546|-1.0546|-1.0546	5|5|10	.|.|0.24483	.|.|T	.|.|0.36	-16.7446|-16.7446|-16.7446	9.7943|9.7943|9.7943	0.40726|0.40726|0.40726	0.1665:0.0:0.8335:0.0|0.1665:0.0:0.8335:0.0|0.1665:0.0:0.8335:0.0	.|.|.	.|.|166;166	.|.|Q53EV2;P06746	.|.|.;DPOLB_HUMAN	N|T|L	23|96|166;12;201;12	.|.|ENSP00000265421:V166L;ENSP00000430610:V12L;ENSP00000430784:V201L;ENSP00000440497:V12L	.|.|ENSP00000265421:V166L	K|S|V	+|+|+	3|2|1	2|0|0	POLB|POLB|POLB	42334013|42334013|42334013	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	1.048000|1.048000|1.048000	0.30379|0.30379|0.30379	1.430000|1.430000|1.430000	0.47334|0.47334|0.47334	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	AAG|AGT|GTT		0.318	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		C	42214856	G	C	42214856	3	2	403	1	0	0	0	0	1	0	0	0	12189	1029	36	3	530	3	POLB	8	42214856	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09		42214856	104149166	19	22143											
DCAF4L2	138009	genome.wustl.edu	37	8	88885717	88885717	+	Silent	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr8:88885717C>T	ENST00000319675.3	-	1	579	c.483G>A	c.(481-483)gcG>gcA	p.A161A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	161								p.A161A(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGAACAGCGACGCTGGGAGCA	0.567																																																2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	8											101	94	96					8																	88885717		2203	4300	6503	88954833	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.483G>A	8.37:g.88885717C>T			88954833		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																				0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		T	88885717	C	T	88885717	2	4	403	1	0	0	0	0	0	0	0	1	4272	523	19	1		1	DCAF4L2	8	88885717	Silent	SNP	C	TCGA-42-2590-01A-01D-1526-09	46670861	88885717	57478305	20	22144											
C9orf170	401535	genome.wustl.edu	37	9	89763745	89763745	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr9:89763745G>C	ENST00000375941.2	+	1	187	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	34										large_intestine(3)|lung(2)|prostate(1)	6						GAGGAAAGGGGCCTCGCTCGC	0.642																																																0			9											26	29	28					9																	89763745		2202	4299	6501	88953565	SO:0001583	missense	0			AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.100G>C	9.37:g.89763745G>C	ENSP00000365108:p.Ala34Pro		88953565		Missense_Mutation	SNP	ENST00000375941.2	37	CCDS35058.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600034	0.28534	.	.	ENSG00000204446	ENST00000375941	.	.	.	2.99	-2.79	0.05841	.	.	.	.	.	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	P	0.53912	0.737	T	0.20739	-1.0266	8	0.87932	D	0	.	6.1177	0.20136	0.1045:0.0:0.2679:0.6276	.	34	A2RU37	CI170_HUMAN	P	34	.	ENSP00000365108:A34P	A	+	1	0	C9orf170	88953565	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.770000	0.04705	-0.699000	0.05077	-0.230000	0.12252	GCC		0.642	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709		C	89763745	G	C	89763745	3	2	403	1	0	0	0	0	1	0	0	0	2469	1203	42	3	102	3	C9orf170	9	89763745	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09		89763745	51449686	21	22145											
ADAMTS13	11093	genome.wustl.edu	37	9	136302926	136302926	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr9:136302926G>A	ENST00000371929.3	+	13	1937	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R467H|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R498H|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R170H|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	498	Cysteine-rich.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATCATGAAGCGTGGAGACAGC	0.627																																																0			9											93	90	91					9																	136302926		2203	4300	6503	135292747	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1493G>A	9.37:g.136302926G>A	ENSP00000360997:p.Arg498His		135292747	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223301	0.79464	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.42	5.42	0.78866	.	.	.	.	.	T	0.76702	0.4024	L	0.41906	1.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.986;0.994;0.976	T	0.78550	-0.2161	9	0.72032	D	0.01	.	18.217	0.89889	0.0:0.0:1.0:0.0	.	498;467;498	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	H	498;498;467;170	ENSP00000360997:R498H;ENSP00000347927:R498H;ENSP00000348997:R467H;ENSP00000444504:R170H	ENSP00000347927:R498H	R	+	2	0	ADAMTS13	135292747	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	6.288000	0.72679	2.535000	0.85469	0.655000	0.94253	CGT		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		A	136302926	G	A	136302926	3	1	403	1	0	0	0	0	1	0	0	0	258	1145	40	1	1543	1	ADAMTS13	9	136302926	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09	46539181	136302926	4910505	22	22146											
ZBTB39	9880	genome.wustl.edu	37	12	57398678	57398678	+	Silent	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr12:57398678T>C	ENST00000300101.2	-	2	109	c.24A>G	c.(22-24)caA>caG	p.Q8Q		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGTTGGTGCTTTGCAGTTTGA	0.507																																																0			12											110	97	101					12																	57398678		2203	4299	6502	55684945	SO:0001819	synonymous_variant	9880			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.24A>G	12.37:g.57398678T>C			55684945	A7MD38|Q9UD98	Silent	SNP	ENST00000300101.2	37	CCDS31839.1																																																																																				0.507	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		C	57398678	T	C	57398678	2	2	403	1	0	0	0	0	0	0	0	1	17540	1838	64	4		4	ZBTB39	12	57398678	Silent	SNP	T	TCGA-42-2590-01A-01D-1526-09		57398678	76453217	23	22147											
LRRIQ1	84125	genome.wustl.edu	37	12	85450734	85450734	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr12:85450734A>T	ENST00000393217.2	+	8	2224	c.2163A>T	c.(2161-2163)gaA>gaT	p.E721D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	721										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGCACCTGAACCTGATAGCA	0.358																																																0			12											191	207	202					12																	85450734		2203	4299	6502	83974865	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2163A>T	12.37:g.85450734A>T	ENSP00000376910:p.Glu721Asp		83974865	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174635	0.38413	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.54279	0.58	5.42	-2.03	0.07365	.	0.758889	0.11521	N	0.555714	T	0.34395	0.0896	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.12837	0.005;0.008	T	0.24190	-1.0167	10	0.48119	T	0.1	.	2.5747	0.04803	0.3267:0.1227:0.0753:0.4753	.	721;696	Q96JM4;C9JI57	LRIQ1_HUMAN;.	D	721;696;721	ENSP00000376910:E721D	ENSP00000256007:E721D	E	+	3	2	LRRIQ1	83974865	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.095000	0.15127	-0.235000	0.09767	-0.435000	0.05868	GAA		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		T	85450734	A	T	85450734	3	4	403	1	0	0	0	0	1	0	0	0	9029	40	2	5	2189	5	LRRIQ1	12	85450734	Missense_Mutation	SNP	A	TCGA-42-2590-01A-01D-1526-09	28052056	85450734	48401161	24	22148											
MED13L	23389	genome.wustl.edu	37	12	116452960	116452960	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr12:116452960C>T	ENST00000281928.3	-	8	1335	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	377						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTCGATGGACCATATGATTG	0.453																																																0			12											235	209	218					12																	116452960		2203	4300	6503	114937343	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1129G>A	12.37:g.116452960C>T	ENSP00000281928:p.Val377Ile		114937343	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154699	0.78114	.	.	ENSG00000123066	ENST00000281928	T	0.77358	-1.09	5.88	5.88	0.94601	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.057254	0.64402	D	0.000001	T	0.77110	0.4082	M	0.74881	2.28	0.42620	D	0.993345	B	0.14438	0.01	B	0.16289	0.015	T	0.71669	-0.4523	10	0.33141	T	0.24	.	14.3828	0.66923	0.0:0.9296:0.0:0.0704	.	377	Q71F56	MD13L_HUMAN	I	377	ENSP00000281928:V377I	ENSP00000281928:V377I	V	-	1	0	MED13L	114937343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.390000	0.59646	2.781000	0.95711	0.591000	0.81541	GTC		0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			T	116452960	C	T	116452960	3	4	403	1	0	0	0	0	1	0	0	0	9431	507	18	2	5599	2	MED13L	12	116452960	Missense_Mutation	SNP	C	TCGA-42-2590-01A-01D-1526-09	31002226	116452960	17398935	25	22149											
KIAA0564	23078	genome.wustl.edu	37	13	42335323	42335323	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr13:42335323C>A	ENST00000379310.3	-	21	2435	c.2367G>T	c.(2365-2367)aaG>aaT	p.K789N	VWA8_ENST00000281496.6_Missense_Mutation_p.K789N	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	789						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGTCAACAATCTTGTTTTTTC	0.358																																																0			13											160	157	158					13																	42335323		2203	4300	6503	41233323	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2367G>T	13.37:g.42335323C>A	ENSP00000368612:p.Lys789Asn		41233323	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566039	0.65651	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.29397	1.57;1.57	5.63	4.78	0.61160	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60031	-0.7342	10	0.66056	D	0.02	.	10.7818	0.46382	0.0:0.8455:0.0:0.1545	.	789	A3KMH1	K0564_HUMAN	N	693;789;789	ENSP00000368612:K789N;ENSP00000281496:K789N	ENSP00000251030:K693N	K	-	3	2	KIAA0564	41233323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.247000	0.43151	1.513000	0.48852	-0.145000	0.13849	AAG		0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		A	42335323	C	A	42335323	3	1	403	1	0	0	0	0	1	0	0	0	8185	912	32	3	3454	3	KIAA0564	13	42335323	Missense_Mutation	SNP	C	TCGA-42-2590-01A-01D-1526-09		42335323	72834555	26	22150											
NEK5	341676	genome.wustl.edu	37	13	52646089	52646089	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr13:52646089G>C	ENST00000355568.4	-	21	2054	c.1915C>G	c.(1915-1917)Cca>Gca	p.P639A		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	639					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CCTGCTTCTGGGCAGTGAAGT	0.398																																																0			13											129	123	125					13																	52646089		2203	4298	6501	51544090	SO:0001583	missense	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1915C>G	13.37:g.52646089G>C	ENSP00000347767:p.Pro639Ala		51544090	Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	3.536	-0.094651	0.07053	.	.	ENSG00000197168	ENST00000355568	T	0.68181	-0.31	5.27	2.34	0.29019	.	1.410070	0.04526	N	0.385555	T	0.62527	0.2435	L	0.56769	1.78	0.22926	N	0.998554	B	0.12013	0.005	B	0.11329	0.006	T	0.41197	-0.9522	10	0.40728	T	0.16	.	5.3296	0.15924	0.203:0.1611:0.6359:0.0	.	639	Q6P3R8	NEK5_HUMAN	A	639	ENSP00000347767:P639A	ENSP00000347767:P639A	P	-	1	0	NEK5	51544090	0.950000	0.32346	0.888000	0.34837	0.295000	0.27426	0.689000	0.25437	0.128000	0.18479	0.557000	0.71058	CCA		0.398	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		C	52646089	G	C	52646089	3	2	403	1	0	0	0	0	1	0	0	0	10327	1232	43	3	219	3	NEK5	13	52646089	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09	10310766	52646089	62523789	27	22151											
CYFIP1	23191	genome.wustl.edu	37	15	22955196	22955196	+	Silent	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr15:22955196C>T	ENST00000313077.7	+	15	1715	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	CYFIP1_ENST00000435939.2_5'Flank|CYFIP1_ENST00000560848.1_Silent_p.D530D	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCTTCAATGACCCAGCCTTGC	0.617																																																0			15											71	69	70					15																	22955196		2203	4300	6503	20506637	SO:0001819	synonymous_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1590C>T	15.37:g.22955196C>T			20506637		Silent	SNP	ENST00000313077.7	37	CCDS10009.1																																																																																				0.617	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	22955196	C	T	22955196	2	4	403	1	0	0	0	0	0	0	0	1	4137	506	18	2		2	CYFIP1	15	22955196	Silent	SNP	C	TCGA-42-2590-01A-01D-1526-09		22955196	79576196	28	22152											
ATP8B4	79895	genome.wustl.edu	37	15	50154499	50154499	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr15:50154499C>A	ENST00000284509.6	-	27	3381	c.3240G>T	c.(3238-3240)atG>atT	p.M1080I	ATP8B4_ENST00000559829.1_Missense_Mutation_p.M1080I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1080						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCACCACTGGCATAACTGAAG	0.418																																																0			15											83	76	78					15																	50154499		2196	4295	6491	47941791	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3240G>T	15.37:g.50154499C>A	ENSP00000284509:p.Met1080Ile		47941791	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731202	0.30684	.	.	ENSG00000104043	ENST00000284509	T	0.38077	1.16	5.36	4.44	0.53790	.	0.257343	0.43747	N	0.000539	T	0.26340	0.0643	L	0.29908	0.895	0.32522	N	0.536117	P;B	0.41524	0.753;0.001	B;B	0.39027	0.288;0.002	T	0.31110	-0.9955	10	0.30854	T	0.27	.	11.6159	0.51090	0.0:0.9134:0.0:0.0866	.	158;1080	Q6PG43;Q8TF62	.;AT8B4_HUMAN	I	1080	ENSP00000284509:M1080I	ENSP00000284509:M1080I	M	-	3	0	ATP8B4	47941791	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	1.526000	0.35964	1.258000	0.44101	0.563000	0.77884	ATG		0.418	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		A	50154499	C	A	50154499	3	1	403	1	0	0	0	0	1	0	0	0	1197	710	25	3	346	3	ATP8B4	15	50154499	Missense_Mutation	SNP	C	TCGA-42-2590-01A-01D-1526-09	27199303	50154499	52376893	29	22153											
C16orf13	84326	genome.wustl.edu	37	16	686168	686168	+	Missense_Mutation	SNP	G	G	T	rs182493474		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr16:686168G>T	ENST00000301686.8	-	1	134	c.123C>A	c.(121-123)caC>caA	p.H41Q	C16orf13_ENST00000338401.4_Missense_Mutation_p.H41Q|C16orf13_ENST00000397664.4_Missense_Mutation_p.H41Q|C16orf13_ENST00000397665.2_Missense_Mutation_p.H41Q|C16orf13_ENST00000397666.2_Missense_Mutation_p.H41Q	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	41										large_intestine(1)	1		Hepatocellular(780;0.00335)				AGTGCGCTGCGTGCTGGCCGG	0.726																																																0			16											8	9	8					16																	686168		1648	3032	4680	626169	SO:0001583	missense	84326				CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.123C>A	16.37:g.686168G>T	ENSP00000445926:p.His41Gln		626169	A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Missense_Mutation	SNP	ENST00000301686.8	37	CCDS45368.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177590	0.57692	.	.	ENSG00000130731	ENST00000397666;ENST00000397665;ENST00000301686;ENST00000397664;ENST00000338401	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.02	-0.693	0.11298	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	M	0.88512	2.96	0.39742	D	0.971765	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.99;1.0;0.966;0.998;1.0	T	0.74206	-0.3740	10	0.87932	D	0	-51.2482	5.6006	0.17351	0.4113:0.0:0.4593:0.1294	.	41;41;41;41;41	Q96S19-3;D6REA6;F6TF62;F6VM53;Q96S19	.;.;.;.;CP013_HUMAN	Q	41	ENSP00000440765:H41Q;ENSP00000444460:H41Q;ENSP00000445926:H41Q;ENSP00000440475:H41Q;ENSP00000444140:H41Q	ENSP00000445926:H41Q	H	-	3	2	Z84479.1	626169	0.015000	0.18098	0.414000	0.26521	0.662000	0.39071	-0.115000	0.10741	0.041000	0.15688	0.491000	0.48974	CAC		0.726	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109081.2	NM_001040160		T	686168	G	T	686168	3	4	403	1	0	0	0	0	1	0	0	0	1811	1136	40	3	586	3	C16orf13	16	686168	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09		686168	89668585	30	22154											
DNAH3	55567	genome.wustl.edu	37	16	20976434	20976434	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr16:20976434C>G	ENST00000261383.3	-	53	8771	c.8772G>C	c.(8770-8772)caG>caC	p.Q2924H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2924	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCTCTTTTCTGGTTCAGCT	0.547																																																0			16											178	167	170					16																	20976434		2201	4300	6501	20883935	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8772G>C	16.37:g.20976434C>G	ENSP00000261383:p.Gln2924His		20883935	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	1.309	-0.602760	0.03744	.	.	ENSG00000158486	ENST00000261383	T	0.74526	-0.85	5.93	2.42	0.29668	Dynein heavy chain, coiled coil stalk (1);	0.742229	0.12787	N	0.439145	T	0.68274	0.2983	L	0.29908	0.895	0.80722	D	1	D	0.55385	0.971	P	0.51229	0.663	T	0.65207	-0.6224	10	0.56958	D	0.05	.	7.0111	0.24863	0.0:0.5331:0.2569:0.21	.	2924	Q8TD57	DYH3_HUMAN	H	2924	ENSP00000261383:Q2924H	ENSP00000261383:Q2924H	Q	-	3	2	DNAH3	20883935	0.182000	0.23173	0.993000	0.49108	0.054000	0.15201	0.677000	0.25262	0.819000	0.34492	0.655000	0.94253	CAG		0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		G	20976434	C	G	20976434	3	3	403	1	0	0	0	0	1	0	0	0	4603	912	32	3	3617	3	DNAH3	16	20976434	Missense_Mutation	SNP	C	TCGA-42-2590-01A-01D-1526-09	20290266	20976434	69378319	31	22155											
GSG1L	146395	genome.wustl.edu	37	16	27818807	27818807	+	Splice_Site	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr16:27818807C>T	ENST00000447459.2	-	6	983		c.e6+1		GSG1L_ENST00000380898.2_Splice_Site|GSG1L_ENST00000569166.1_Splice_Site|GSG1L_ENST00000395724.3_Splice_Site|GSG1L_ENST00000380897.3_Splice_Site	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGGCCACTTACGGGCAGGGTA	0.532																																																2	Unknown(2)	lung(2)	16											73	58	63					16																	27818807		2196	4300	6496	27726308	SO:0001630	splice_region_variant	146395			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.898+1G>A	16.37:g.27818807C>T			27726308	Q7Z6F8|Q8TB81	Splice_Site	SNP	ENST00000447459.2	37	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207193	0.39003	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5171	0.50529	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSG1L	27726308	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	3.232000	0.51302	2.426000	0.82243	0.561000	0.74099	.		0.532	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675	Intron	T	27818807	C	T	27818807	5	4	403	1	0	0	0	0	0	0	1	0	6821	550	19	1	104	1	GSG1L	16	27818807	Splice_Site	SNP	C	TCGA-42-2590-01A-01D-1526-09	6842373	27818807	62535946	32	22156											
CDH1	999	genome.wustl.edu	37	16	68842726	68842726	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr16:68842726A>T	ENST00000261769.5	+	5	853	c.662A>T	c.(661-663)gAt>gTt	p.D221V	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D221V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	221	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGCCTCTGGATAGAGAACGC	0.473			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	2	Unknown(2)	breast(2)	16											71	67	68					16																	68842726		2198	4300	6498	67400227	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.662A>T	16.37:g.68842726A>T	ENSP00000261769:p.Asp221Val		67400227	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493394	0.26774	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.65364	-0.15;-0.15	5.78	5.78	0.91487	Cadherin (5);Cadherin-like (1);	0.000000	0.52532	D	0.000069	D	0.87095	0.6092	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91803	0.5453	10	0.87932	D	0	.	16.0592	0.80826	1.0:0.0:0.0:0.0	.	221;221	Q9UII8;P12830	.;CADH1_HUMAN	V	221	ENSP00000261769:D221V;ENSP00000414946:D221V	ENSP00000261769:D221V	D	+	2	0	CDH1	67400227	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	8.939000	0.92951	2.333000	0.79357	0.533000	0.62120	GAT		0.473	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		T	68842726	A	T	68842726	3	4	403	1	0	0	0	0	1	0	0	0	3095	333	12	5	680	5	CDH1	16	68842726	Missense_Mutation	SNP	A	TCGA-42-2590-01A-01D-1526-09	41023919	68842726	21512027	33	22157											
ATP2A3	489	genome.wustl.edu	37	17	3850844	3850844	+	Silent	SNP	C	C	A	rs374049814		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:3850844C>A	ENST00000352011.3	-	8	990	c.936G>T	c.(934-936)ccG>ccT	p.P312P	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.P312P|ATP2A3_ENST00000359983.3_Silent_p.P312P|ATP2A3_ENST00000309890.7_Silent_p.P312P|ATP2A3_ENST00000397043.3_Silent_p.P312P|ATP2A3_ENST00000397041.3_Silent_p.P312P			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	312					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGATGACAGCCGGGAGGCCCT	0.697																																					GBM(32;29 774 15719 37967)											0			17											44	42	42					17																	3850844		2203	4297	6500	3797593	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.936G>T	17.37:g.3850844C>A			3797593	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																				0.697	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		A	3850844	C	A	3850844	2	1	403	1	0	0	0	0	0	0	0	1	1138	639	23	3		3	ATP2A3	17	3850844	Silent	SNP	C	TCGA-42-2590-01A-01D-1526-09		3850844	77344366	34	22158											
CCL8	6355	genome.wustl.edu	37	17	32647889	32647889	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:32647889A>T	ENST00000394620.1	+	3	729	c.263A>T	c.(262-264)aAg>aTg	p.K88M		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	88					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				GATTCCATGAAGCATCTGGAC	0.478																																																0			17											69	62	64					17																	32647889		2203	4300	6503	29672002	SO:0001583	missense	6355			X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"Chemokine ligands", "Endogenous ligands"	10635	protein-coding gene	gene with protein product		602283	"small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.263A>T	17.37:g.32647889A>T	ENSP00000378118:p.Lys88Met		29672002	A0AV77|P78388	Missense_Mutation	SNP	ENST00000394620.1	37	CCDS11280.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761297	0.69763	.	.	ENSG00000108700	ENST00000394620;ENST00000225840	T	0.15834	2.39	5.27	1.79	0.24919	Chemokine interleukin-8-like domain (3);	1.087510	0.07272	N	0.869294	T	0.34048	0.0884	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.11131	-1.0600	9	0.72032	D	0.01	.	4.3968	0.11367	0.6519:0.1693:0.1788:0.0	.	88	P80075	CCL8_HUMAN	M	98;88	ENSP00000378118:K98M	ENSP00000225840:K88M	K	+	2	0	CCL8	29672002	0.012000	0.17670	0.000000	0.03702	0.664000	0.39144	0.604000	0.24164	0.022000	0.15160	0.460000	0.39030	AAG		0.478	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623		T	32647889	A	T	32647889	3	4	403	1	0	0	0	0	1	0	0	0	2907	72	3	5	273	5	CCL8	17	32647889	Missense_Mutation	SNP	A	TCGA-42-2590-01A-01D-1526-09	28797045	32647889	48547321	35	22159											
KRT24	192666	genome.wustl.edu	37	17	38858184	38858184	+	Splice_Site	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:38858184A>T	ENST00000264651.2	-	2	673	c.617T>A	c.(616-618)aTc>aAc	p.I206N		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	206	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGCAGCAATGATCTAAAAAAG	0.388																																					GBM(61;380 1051 14702 23642 31441)											0			17											77	70	73					17																	38858184		2203	4300	6503	36111710	SO:0001630	splice_region_variant	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.616-1T>A	17.37:g.38858184A>T			36111710	Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048654	0.55110	.	.	ENSG00000167916	ENST00000264651	D	0.91631	-2.88	6.04	4.96	0.65561	Filament (1);	.	.	.	.	D	0.94003	0.8079	M	0.92880	3.355	0.47659	D	0.999484	B	0.27316	0.175	B	0.33196	0.159	D	0.92368	0.5903	9	0.72032	D	0.01	.	12.1377	0.53981	0.8717:0.0:0.0:0.1283	.	206	Q2M2I5	K1C24_HUMAN	N	206	ENSP00000264651:I206N	ENSP00000264651:I206N	I	-	2	0	KRT24	36111710	1.000000	0.71417	0.980000	0.43619	0.970000	0.65996	6.892000	0.75644	1.111000	0.41721	-0.368000	0.07277	ATC		0.388	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016	Missense_Mutation	T	38858184	A	T	38858184	5	4	403	1	0	0	0	0	0	0	1	0	8461	347	12	5	988	5	KRT24	17	38858184	Splice_Site	SNP	A	TCGA-42-2590-01A-01D-1526-09	6210295	38858184	42337026	36	22160											
IGF2BP1	10642	genome.wustl.edu	37	17	47075262	47075262	+	Missense_Mutation	SNP	A	A	G	rs200362453		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:47075262A>G	ENST00000290341.3	+	1	489	c.155A>G	c.(154-156)aAg>aGg	p.K52R	IGF2BP1_ENST00000515586.1_3'UTR|RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.K52R	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	52	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGGCGATGAAGGCCATCGAA	0.587													A|||	1	0.000199681	0	0	5008	,	,		12817	0		0.001	False		,,,				2504	0				Esophageal Squamous(198;1041 2123 8248 37119 38268)											0			17											91	93	92					17																	47075262		2203	4300	6503	44430261	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.155A>G	17.37:g.47075262A>G	ENSP00000290341:p.Lys52Arg		44430261	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.96	3.267347	0.59540	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.08102	3.13;3.13	4.87	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.05044	0.0135	N	0.17922	0.545	0.26207	N	0.979356	B;B	0.31256	0.316;0.023	B;B	0.28991	0.097;0.042	T	0.39333	-0.9619	10	0.17369	T	0.5	-28.3794	9.8911	0.41290	0.9176:0.0:0.0824:0.0	.	52;52	C9JT33;Q9NZI8	.;IF2B1_HUMAN	R	52	ENSP00000290341:K52R;ENSP00000389135:K52R	ENSP00000290341:K52R	K	+	2	0	IGF2BP1	44430261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	1.934000	0.56057	0.528000	0.53228	AAG		0.587	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		G	47075262	A	G	47075262	3	3	403	1	0	0	0	0	1	0	0	0	7573	72	3	4	157	4	IGF2BP1	17	47075262	Missense_Mutation	SNP	A	TCGA-42-2590-01A-01D-1526-09	8217078	47075262	34119948	37	22161											
MRPS23	51649	genome.wustl.edu	37	17	55926658	55926658	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:55926658T>C	ENST00000313608.8	-	2	203	c.158A>G	c.(157-159)tAt>tGt	p.Y53C	MRPS23_ENST00000578444.1_Missense_Mutation_p.Y53C	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	53					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					GGCTTTGCCATATCGCACTCG	0.577																																																0			17											106	88	94					17																	55926658		2203	4300	6503	53281657	SO:0001583	missense	51649			AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"Mitochondrial ribosomal proteins / small subunits"	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.158A>G	17.37:g.55926658T>C	ENSP00000320184:p.Tyr53Cys		53281657	B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	ENST00000313608.8	37	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429818	0.25726	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.86	5.86	0.93980	Ribosomal protein S23/S25, mitochondrial (1);	0.359620	0.32593	N	0.005895	T	0.76905	0.4053	M	0.67953	2.075	0.38422	D	0.9462	D	0.89917	1.0	D	0.75484	0.986	T	0.81084	-0.1093	9	0.87932	D	0	.	13.7783	0.63069	0.0:0.0:0.0:1.0	.	53	Q9Y3D9	RT23_HUMAN	C	53	.	ENSP00000320184:Y53C	Y	-	2	0	MRPS23	53281657	0.994000	0.37717	0.727000	0.30756	0.548000	0.35241	3.322000	0.52007	2.240000	0.73641	0.533000	0.62120	TAT		0.577	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		C	55926658	T	C	55926658	3	2	403	1	0	0	0	0	1	0	0	0	9834	1406	49	4	430	4	MRPS23	17	55926658	Missense_Mutation	SNP	T	TCGA-42-2590-01A-01D-1526-09	8851396	55926658	25268552	38	22162											
MBP	4155	genome.wustl.edu	37	18	74696735	74696735	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr18:74696735T>A	ENST00000397869.3	-	5	708	c.662A>T	c.(661-663)aAg>aTg	p.K221M	RP11-862L9.3_ENST00000580580.1_RNA|MBP_ENST00000397865.5_Missense_Mutation_p.K145M|MBP_ENST00000526111.1_Missense_Mutation_p.K134M|MBP_ENST00000397875.3_Missense_Mutation_p.K166M|MBP_ENST00000355994.2_Missense_Mutation_p.K289M|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000527041.1_Intron|MBP_ENST00000578193.1_Missense_Mutation_p.K156M|MBP_ENST00000359645.3_Missense_Mutation_p.K171M|MBP_ENST00000579129.1_Intron|MBP_ENST00000528160.1_Missense_Mutation_p.S40C|MBP_ENST00000397866.4_Missense_Mutation_p.K156M|MBP_ENST00000580402.1_Missense_Mutation_p.K289M|MBP_ENST00000382582.3_Missense_Mutation_p.K182M|RP11-862L9.3_ENST00000582546.1_RNA|MBP_ENST00000354542.4_Intron			P13727	PRG2_HUMAN	myelin basic protein	0	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	CCTTACCAGCTTAAAAATTTT	0.557																																					NSCLC(17;72 1131 19392)											0			18											72	75	74					18																	74696735		2203	4300	6503	72825723	SO:0001583	missense	4155				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.662A>T	18.37:g.74696735T>A	ENSP00000380967:p.Lys221Met		72825723	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.04|15.04	2.715941|2.715941	0.48622|0.48622	.|.	.|.	ENSG00000197971|ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114|ENST00000528160	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.178133|.	0.35970|.	N|.	0.002862|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.50333|0.50333	1.59|1.59	0.36902|0.36902	D|D	0.890437|0.890437	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.979;0.997;0.999;0.999|.	T|T	0.71616|0.71616	-0.4539|-0.4539	9|6	0.87932|0.87932	D|D	0|0	-0.0228|-0.0228	11.9271|11.9271	0.52825|0.52825	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	289;145;171;182|.	P02686;P02686-6;P02686-4;P02686-3|.	MBP_HUMAN;.;.;.|.	M|C	182;289;166;156;145;171;221;134;156;100|40	.|.	ENSP00000348273:K289M|ENSP00000436830:S40C	K|S	-|-	2|1	0|0	MBP|MBP	72825723|72825723	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.127000|0.127000	0.20565|0.20565	4.178000|4.178000	0.58284|0.58284	1.745000|1.745000	0.51790|0.51790	0.379000|0.379000	0.24179|0.24179	AAG|AGC		0.557	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		A	74696735	T	A	74696735	3	1	403	1	0	0	0	0	1	0	0	0	9359	1609	56	5	56	5	MBP	18	74696735	Missense_Mutation	SNP	T	TCGA-42-2590-01A-01D-1526-09		74696735	3380513	39	22163											
EMR3	84658	genome.wustl.edu	37	19	14758001	14758001	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:14758001G>C	ENST00000253673.5	-	8	974	c.874C>G	c.(874-876)Cac>Gac	p.H292D	EMR3_ENST00000599900.1_Missense_Mutation_p.H77D|EMR3_ENST00000344373.4_Missense_Mutation_p.H240D|EMR3_ENST00000443157.2_Missense_Mutation_p.H166D	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	292					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACCTTCACGTGCTGGAAAGTC	0.493																																																0			19											252	216	228					19																	14758001		2203	4300	6503	14619001	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.874C>G	19.37:g.14758001G>C	ENSP00000253673:p.His292Asp		14619001		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868430	0.32977	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.61510	0.73;0.1;0.77	3.94	1.69	0.24217	.	.	.	.	.	T	0.67230	0.2871	L	0.60455	1.87	0.09310	N	1	P;P;D	0.57899	0.924;0.954;0.981	P;P;D	0.63793	0.836;0.804;0.918	T	0.56050	-0.8043	9	0.72032	D	0.01	.	8.803	0.34920	0.0:0.0:0.5911:0.4089	.	166;240;292	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	D	166;292;240	ENSP00000396208:H166D;ENSP00000253673:H292D;ENSP00000340758:H240D	ENSP00000253673:H292D	H	-	1	0	EMR3	14619001	0.274000	0.24191	0.003000	0.11579	0.021000	0.10359	1.403000	0.34612	0.151000	0.19162	-0.194000	0.12790	CAC		0.493	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		C	14758001	G	C	14758001	3	2	403	1	0	0	0	0	1	0	0	0	5106	1319	46	3	1120	3	EMR3	19	14758001	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09		14758001	44370982	40	22164											
EMR3	84658	genome.wustl.edu	37	19	14774264	14774264	+	Silent	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:14774264C>T	ENST00000253673.5	-	3	265	c.165G>A	c.(163-165)caG>caA	p.Q55Q	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Silent_p.Q55Q|EMR3_ENST00000443157.2_Silent_p.Q55Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	55	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGAATAGTTTCTGCCCAGATC	0.383																																																0			19											98	85	90					19																	14774264		2203	4300	6503	14635264	SO:0001819	synonymous_variant	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.165G>A	19.37:g.14774264C>T			14635264		Silent	SNP	ENST00000253673.5	37	CCDS12315.1																																																																																				0.383	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		T	14774264	C	T	14774264	2	4	403	1	0	0	0	0	0	0	0	1	5106	912	32	2		2	EMR3	19	14774264	Silent	SNP	C	TCGA-42-2590-01A-01D-1526-09	16263	14774264	44354719	41	22165											
OR7A10	390892	genome.wustl.edu	37	19	14952576	14952576	+	Silent	SNP	A	A	T	rs200402196		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:14952576A>T	ENST00000248058.1	-	1	113	c.114T>A	c.(112-114)acT>acA	p.T38T		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38T(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TCCCGAGCACAGTGACCAGGT	0.488																																																1	Substitution - coding silent(1)	stomach(1)	19											68	65	66					19																	14952576		2203	4299	6502	14813576	SO:0001819	synonymous_variant	390892				CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.114T>A	19.37:g.14952576A>T			14813576	Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	CCDS32936.1																																																																																				0.488	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		T	14952576	A	T	14952576	2	4	403	1	0	0	0	0	0	0	0	1	11214	175	7	5		5	OR7A10	19	14952576	Silent	SNP	A	TCGA-42-2590-01A-01D-1526-09	178312	14952576	44176407	42	22166											
RYR1	6261	genome.wustl.edu	37	19	38964346	38964346	+	Silent	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:38964346A>T	ENST00000359596.3	+	28	4095	c.4095A>T	c.(4093-4095)ggA>ggT	p.G1365G	RYR1_ENST00000360985.3_Silent_p.G1365G|RYR1_ENST00000355481.4_Silent_p.G1365G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1365	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.			GEAQ -> RGA (in Ref. 1; AA sequence). {ECO:0000305}.	calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGCGGGGGGAGAGGCGCAGC	0.687																																																0			19											2	3	3					19																	38964346		1618	3190	4808	43656186	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4095A>T	19.37:g.38964346A>T			43656186	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.687	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38964346	A	T	38964346	2	4	403	1	0	0	0	0	0	0	0	1	13771	291	11	5		5	RYR1	19	38964346	Silent	SNP	A	TCGA-42-2590-01A-01D-1526-09	24011770	38964346	20164637	43	22167											
LIG1	3978	genome.wustl.edu	37	19	48654585	48654585	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:48654585G>C	ENST00000263274.7	-	7	897	c.478C>G	c.(478-480)Ccg>Gcg	p.P160A	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.P129A|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	160					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTTCTTTCGGGGTCTCCTCT	0.537								Nucleotide excision repair (NER)																																								0			19											98	93	95					19																	48654585		2203	4300	6503	53346397	SO:0001583	missense	3978				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.478C>G	19.37:g.48654585G>C	ENSP00000263274:p.Pro160Ala		53346397	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666078	0.29604	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000542460	T;T;T	0.56776	0.51;0.44;2.1	4.54	3.5	0.40072	.	0.688293	0.15046	N	0.283590	T	0.43523	0.1251	M	0.62723	1.935	0.28048	N	0.933495	P;P	0.43750	0.462;0.816	B;B	0.34093	0.133;0.175	T	0.33420	-0.9869	10	0.26408	T	0.33	-6.2507	10.7182	0.46026	0.0:0.0:0.8086:0.1914	.	129;160	B4DTU4;P18858	.;DNLI1_HUMAN	A	160;191;129;128	ENSP00000263274:P160A;ENSP00000442841:P129A;ENSP00000445928:P128A	ENSP00000263274:P160A	P	-	1	0	LIG1	53346397	0.827000	0.29292	0.188000	0.23233	0.001000	0.01503	2.391000	0.44424	1.232000	0.43678	-0.226000	0.12346	CCG		0.537	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		C	48654585	G	C	48654585	3	2	403	1	0	0	0	0	1	0	0	0	8781	1232	43	3	2369	3	LIG1	19	48654585	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09	9690239	48654585	10474398	44	22168											
TEAD2	8463	genome.wustl.edu	37	19	49846651	49846651	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:49846651T>A	ENST00000311227.2	-	10	1004	c.914A>T	c.(913-915)gAc>gTc	p.D305V	TEAD2_ENST00000598810.1_Missense_Mutation_p.D309V|TEAD2_ENST00000377214.4_Missense_Mutation_p.D308V|TEAD2_ENST00000601519.1_Missense_Mutation_p.D308V|TEAD2_ENST00000593945.1_Missense_Mutation_p.D309V|TEAD2_ENST00000539846.1_Missense_Mutation_p.D177V	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	305	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCAGTTCAGGTCCGCCTGGGA	0.592																																																0			19											63	58	60					19																	49846651		2203	4300	6503	54538463	SO:0001583	missense	8463			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.914A>T	19.37:g.49846651T>A	ENSP00000310701:p.Asp305Val		54538463	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.311042	0.40895	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.53423	0.62;0.62;0.62	3.84	2.76	0.32466	.	0.095451	0.41823	D	0.000806	T	0.64182	0.2575	M	0.75150	2.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.87578	0.996;0.998;0.955	T	0.64232	-0.6456	10	0.87932	D	0	.	8.6559	0.34062	0.0:0.0:0.194:0.8059	.	177;305;308	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	V	305;308;177	ENSP00000310701:D305V;ENSP00000366419:D308V;ENSP00000437928:D177V	ENSP00000310701:D305V	D	-	2	0	TEAD2	54538463	1.000000	0.71417	0.989000	0.46669	0.120000	0.20174	7.463000	0.80869	0.563000	0.29222	0.459000	0.35465	GAC		0.592	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		A	49846651	T	A	49846651	3	1	403	1	0	0	0	0	1	0	0	0	15739	1667	58	5	441	5	TEAD2	19	49846651	Missense_Mutation	SNP	T	TCGA-42-2590-01A-01D-1526-09	1192066	49846651	9282332	45	22169											
PPP1R16B	26051	genome.wustl.edu	37	20	37536564	37536564	+	Missense_Mutation	SNP	C	C	G	rs546796662		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr20:37536564C>G	ENST00000299824.1	+	9	1203	c.1014C>G	c.(1012-1014)agC>agG	p.S338R	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.S296R	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	338					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGACCTCCAGCGCAGGCAGCC	0.597																																																0			20											46	46	46					20																	37536564		2203	4300	6503	36969978	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1014C>G	20.37:g.37536564C>G	ENSP00000299824:p.Ser338Arg		36969978	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.80|16.80	3.222975|3.222975	0.58668|0.58668	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.76839	.|-0.46;-1.05	5.02|5.02	-9.22|-9.22	0.00675|0.00675	.|.	.|0.039630	.|0.85682	.|D	.|0.000000	T|T	0.81173|0.81173	0.4767|0.4767	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D	.|0.89917	.|1.0;0.996	.|D;D	.|0.97110	.|1.0;0.958	D|D	0.86699|0.86699	0.1928|0.1928	5|10	.|0.62326	.|D	.|0.03	.|.	17.1001|17.1001	0.86647|0.86647	0.0:0.4067:0.0:0.5933|0.0:0.4067:0.0:0.5933	.|.	.|296;338	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	G|R	239|338;296	.|ENSP00000299824:S338R;ENSP00000362428:S296R	.|ENSP00000299824:S338R	A|S	+|+	2|3	0|2	PPP1R16B|PPP1R16B	36969978|36969978	0.205000|0.205000	0.23458|0.23458	0.032000|0.032000	0.17829|0.17829	0.767000|0.767000	0.43475|0.43475	-0.302000|-0.302000	0.08221|0.08221	-1.676000|-1.676000	0.01457|0.01457	-1.021000|-1.021000	0.02439|0.02439	GCG|AGC		0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		G	37536564	C	G	37536564	3	3	403	1	0	0	0	0	1	0	0	0	12369	767	27	3	1044	3	PPP1R16B	20	37536564	Missense_Mutation	SNP	C	TCGA-42-2590-01A-01D-1526-09		37536564	25488956	46	22170											
AP1B1	162	genome.wustl.edu	37	22	29724827	29724827	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr22:29724827T>C	ENST00000405198.1	-	22	2864	c.2833A>G	c.(2833-2835)Acc>Gcc	p.T945A	AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000415447.1_Missense_Mutation_p.T935A|AP1B1_ENST00000432560.2_Missense_Mutation_p.T935A|AP1B1_ENST00000356015.2_Missense_Mutation_p.T938A|AP1B1_ENST00000317368.7_Missense_Mutation_p.T915A|AP1B1_ENST00000357586.2_Missense_Mutation_p.T945A|AP1B1_ENST00000402502.1_Missense_Mutation_p.T935A			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	945					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTGAGGATGGTCTCGTAGGCC	0.667																																																0			22											67	54	58					22																	29724827		2203	4299	6502	28054827	SO:0001583	missense	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2833A>G	22.37:g.29724827T>C	ENSP00000384194:p.Thr945Ala		28054827	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	t	11.74	1.728767	0.30593	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.21191	2.03;2.02;2.03;2.03;2.09;2.03;2.03	5.43	5.43	0.79202	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.215849	0.48767	D	0.000163	T	0.08891	0.0220	N	0.03115	-0.41	0.35909	D	0.830945	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.001;0.001;0.002;0.001	T	0.12760	-1.0535	10	0.05525	T	0.97	-44.3308	14.4775	0.67557	0.0:0.0:0.0:1.0	.	495;915;938;945;935	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	A	945;938;935;945;915;935;935	ENSP00000350199:T945A;ENSP00000348297:T938A;ENSP00000400065:T935A;ENSP00000384194:T945A;ENSP00000319361:T915A;ENSP00000386071:T935A;ENSP00000387612:T935A	ENSP00000319361:T915A	T	-	1	0	AP1B1	28054827	0.367000	0.25023	1.000000	0.80357	0.996000	0.88848	0.649000	0.24843	2.073000	0.62155	0.473000	0.43528	ACC		0.667	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		C	29724827	T	C	29724827	3	2	403	1	0	0	0	0	1	0	0	0	731	1667	58	4	20	4	AP1B1	22	29724827	Missense_Mutation	SNP	T	TCGA-42-2590-01A-01D-1526-09		29724827	21579739	47	22171											
GPR143	4935	genome.wustl.edu	37	X	9711702	9711702	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrX:9711702G>A	ENST00000467482.1	-	6	816	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	GPR143_ENST00000380929.2_Missense_Mutation_p.L244F			P51810	GP143_HUMAN	G protein-coupled receptor 143	224	Necessary for its G protein-activation ability and normal distribution of melanosomes.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CTTCCTTTAAGTAAAGAGGCC	0.428																																																0			X											131	111	118					X																	9711702		2203	4299	6502	9671702	SO:0001583	missense	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.670C>T	X.37:g.9711702G>A	ENSP00000417161:p.Leu224Phe		9671702	Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	CCDS14134.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.20|17.20	3.329049|3.329049	0.60743|0.60743	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126|ENST00000447366	D;D;D|.	0.99466|.	-5.95;-5.95;-5.95|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76335|0.76335	0.3973|0.3973	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.77778|0.77778	-0.2460|-0.2460	10|5	0.51188|.	T|.	0.08|.	-16.3032|-16.3032	16.3904|16.3904	0.83533|0.83533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	224|.	P51810|.	GP143_HUMAN|.	F|I	224;244;140|159	ENSP00000417161:L224F;ENSP00000370316:L244F;ENSP00000406138:L140F|.	ENSP00000370316:L244F|.	L|T	-|-	1|2	0|0	GPR143|GPR143	9671702|9671702	1.000000|1.000000	0.71417|0.71417	0.166000|0.166000	0.22797|0.22797	0.221000|0.221000	0.24807|0.24807	5.362000|5.362000	0.66098|0.66098	2.124000|2.124000	0.65301|0.65301	0.513000|0.513000	0.50165|0.50165	CTT|ACT		0.428	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		A	9711702	G	A	9711702	3	1	403	1	0	0	0	0	1	0	0	0	6651	1029	36	2	560	2	GPR143	23	9711702	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09		9711702	145558858	48	22172											
HDAC6	10013	genome.wustl.edu	37	X	48682136	48682136	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrX:48682136G>A	ENST00000334136.5	+	26	3422	c.3244G>A	c.(3244-3246)Gga>Aga	p.G1082R	HDAC6_ENST00000376619.2_Missense_Mutation_p.G1082R|HDAC6_ENST00000444343.2_Missense_Mutation_p.G1096R			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1082					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGAGGCAGCTGGAGGTCAGGA	0.562																																					Pancreas(112;205 1675 2305 8976 15959)											0			X											65	52	56					X																	48682136		2203	4300	6503	48567080	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3244G>A	X.37:g.48682136G>A	ENSP00000334061:p.Gly1082Arg		48567080	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608680	0.66558	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.61040	0.14;0.14;0.14	5.56	5.56	0.83823	.	0.625587	0.14858	N	0.294291	T	0.65375	0.2685	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.56811	-0.7917	10	0.19590	T	0.45	-14.1823	15.9239	0.79597	0.0:0.0:1.0:0.0	.	1072;445;730;1082	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	R	1096;1082;1082	ENSP00000398566:G1096R;ENSP00000334061:G1082R;ENSP00000365804:G1082R	ENSP00000334061:G1082R	G	+	1	0	HDAC6	48567080	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.427000	0.52785	2.447000	0.82792	0.600000	0.82982	GGA		0.562	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		A	48682136	G	A	48682136	3	1	403	1	0	0	0	0	1	0	0	0	7011	1349	47	2	3342	2	HDAC6	23	48682136	Missense_Mutation	SNP	G	TCGA-42-2590-01A-01D-1526-09	38970434	48682136	106588424	49	22173											
AFF2	2334	genome.wustl.edu	37	X	148044409	148044409	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrX:148044409C>A	ENST00000370460.2	+	13	3334	c.2855C>A	c.(2854-2856)aCc>aAc	p.T952N	AFF2_ENST00000286437.5_Missense_Mutation_p.T593N|AFF2_ENST00000342251.3_Missense_Mutation_p.T919N|AFF2_ENST00000370457.5_Missense_Mutation_p.T919N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	952					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCACATCTACCAAACCTAAG	0.428																																																0			X											103	90	94					X																	148044409		2203	4300	6503	147852105	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2855C>A	X.37:g.148044409C>A	ENSP00000359489:p.Thr952Asn		147852105	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	5.673	0.308763	0.10733	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.87	2.02	0.26589	.	0.875311	0.09943	N	0.735728	T	0.47432	0.1445	L	0.31065	0.9	0.09310	N	0.999998	B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001;0.001	B;B;B;B;B;B	0.09377	0.004;0.001;0.001;0.001;0.003;0.004	T	0.28650	-1.0037	10	0.20519	T	0.43	.	9.503	0.39028	0.3737:0.3891:0.2372:0.0	.	593;917;919;913;942;952	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	N	952;919;919;593	ENSP00000359489:T952N;ENSP00000359486:T919N;ENSP00000345459:T919N;ENSP00000286437:T593N	ENSP00000286437:T593N	T	+	2	0	AFF2	147852105	0.050000	0.20438	0.140000	0.22221	0.215000	0.24574	0.836000	0.27545	0.030000	0.15379	-0.922000	0.02736	ACC		0.428	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	148044409	C	A	148044409	3	1	403	1	0	0	0	0	1	0	0	0	357	507	18	3	2960	3	AFF2	23	148044409	Missense_Mutation	SNP	C	TCGA-42-2590-01A-01D-1526-09	99362273	148044409	7226151	50	22174											
MAMLD1	10046	genome.wustl.edu	37	X	149639721	149639721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrX:149639721C>T	ENST00000370401.2	+	4	2186	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	MAMLD1_ENST00000455522.2_Nonsense_Mutation_p.R107*|MAMLD1_ENST00000426613.2_Nonsense_Mutation_p.R601*|MAMLD1_ENST00000262858.5_Nonsense_Mutation_p.R626*|MAMLD1_ENST00000432680.2_Nonsense_Mutation_p.R601*			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	626					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCGTTTTCAGCGATCAGTGGC	0.507																																																0			X											107	93	98					X																	149639721		2203	4300	6503	149390379	SO:0001587	stop_gained	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1876C>T	X.37:g.149639721C>T	ENSP00000359428:p.Arg626*		149390379	B2RCQ4|B4DG93|B9EGA5	Nonsense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	34	5.408364	0.96051	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	.	.	.	5.34	3.43	0.39272	.	0.289104	0.27876	N	0.017481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5916	12.6486	0.56748	0.4769:0.5231:0.0:0.0	.	.	.	.	X	498;626;601;626;601;107	.	ENSP00000262858:R626X	R	+	1	2	MAMLD1	149390379	1.000000	0.71417	0.049000	0.19019	0.224000	0.24922	1.714000	0.37961	1.008000	0.39264	0.544000	0.68410	CGA		0.507	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		T	149639721	C	T	149639721	4	4	403	1	0	0	0	0	0	1	0	0	9208	760	27	1	1886	1	MAMLD1	23	149639721	Nonsense_Mutation	SNP	C	TCGA-42-2590-01A-01D-1526-09	1595312	149639721	5630839	51	22175											
PLEKHN1	84069	genome.wustl.edu	37	1	902140	902140	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:902140G>C	ENST00000379409.2	+	2	170	c.140G>C	c.(139-141)gGg>gCg	p.G47A	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G47A|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G47A			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	47										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCTCGAAGCGGGGACGCCGCC	0.731																																																0			1											7	9	9					1																	902140		2079	4121	6200	892003	SO:0001583	missense	84069			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.140G>C	1.37:g.902140G>C	ENSP00000368719:p.Gly47Ala		892003	Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37		.	.	.	.	.	.	.	.	.	.	G	8.875	0.950146	0.18431	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.46063	0.88;0.91;0.9	5.43	3.55	0.40652	.	0.777662	0.11411	N	0.566803	T	0.31358	0.0794	N	0.24115	0.695	0.35684	D	0.814311	P;B;B	0.49559	0.925;0.112;0.383	P;B;B	0.44561	0.453;0.079;0.106	T	0.25257	-1.0137	10	0.35671	T	0.21	.	8.8322	0.35091	0.1744:0.0:0.8256:0.0	.	47;47;47	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	A	47	ENSP00000368720:G47A;ENSP00000368717:G47A;ENSP00000368719:G47A	ENSP00000368717:G47A	G	+	2	0	PLEKHN1	892003	0.360000	0.24964	0.853000	0.33588	0.099000	0.18886	0.522000	0.22909	1.308000	0.44962	0.558000	0.71614	GGG		0.731	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		C	902140	G	C	902140	3	2	404	1	0	0	0	0	1	0	0	0	12083	1232	43	3	146	3	PLEKHN1	1	902140	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09		902140	248348481	1	22176											
CASP9	842	genome.wustl.edu	37	1	15821826	15821826	+	Missense_Mutation	SNP	G	G	T	rs137972744	byFrequency	TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:15821826G>T	ENST00000333868.5	-	7	1084	c.990C>A	c.(988-990)gaC>gaA	p.D330E	CASP9_ENST00000348549.5_Missense_Mutation_p.D180E|CASP9_ENST00000375890.4_Missense_Mutation_p.D247E|CASP9_ENST00000546424.1_Missense_Mutation_p.D330E	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	330					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TAGATATGGCGTCCAGCTGGT	0.582																																																0			1											111	77	88					1																	15821826		2203	4300	6503	15694413	SO:0001583	missense	842			U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.990C>A	1.37:g.15821826G>T	ENSP00000330237:p.Asp330Glu		15694413	B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	CCDS158.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227990	0.58777	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000375890;ENST00000447522	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	5.06	-10.1	0.00402	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	M	0.79475	2.455	0.32773	N	0.503528	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.87578	0.998;0.977;0.994	T	0.58885	-0.7557	10	0.72032	D	0.01	.	18.4994	0.90876	0.7721:0.0:0.2279:0.0	.	180;330;330	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	E	330;330;180;247;247	ENSP00000449584:D330E;ENSP00000330237:D330E;ENSP00000255256:D180E;ENSP00000365051:D247E;ENSP00000396540:D247E	ENSP00000330237:D330E	D	-	3	2	CASP9	15694413	0.004000	0.15560	0.001000	0.08648	0.015000	0.08874	-1.326000	0.02685	-2.844000	0.00334	-0.910000	0.02820	GAC		0.582	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		T	15821826	G	T	15821826	3	4	404	1	0	0	0	0	1	0	0	0	2679	1136	40	3	272	3	CASP9	1	15821826	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	14919686	15821826	233428795	2	22177											
NBL1	4681	genome.wustl.edu	37	1	19983391	19983391	+	Silent	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:19983391G>C	ENST00000375136.3	+	4	618	c.315G>C	c.(313-315)gtG>gtC	p.V105V	NBL1_ENST00000289749.2_Silent_p.V140V|MINOS1-NBL1_ENST00000602662.1_Silent_p.V105V|NBL1_ENST00000548815.1_Silent_p.V104V	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	105	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACGAGGAGGTGCCCAGGGTGG	0.647																																																0			1											51	46	48					1																	19983391		2202	4300	6502	19855978	SO:0001819	synonymous_variant	4681				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"neuroblastoma candidate region, suppression of tumorigenicity 1", "neuroblastoma suppressor of tumorigenicity 1", "differential screening-selected gene aberrant in neuroblastoma"	600613	"neuroblastoma, suppression of tumorigenicity 1"			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.315G>C	1.37:g.19983391G>C			19855978	A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Silent	SNP	ENST00000375136.3	37	CCDS196.2																																																																																				0.647	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007681.4	NM_005380		C	19983391	G	C	19983391	2	2	404	1	0	0	0	0	0	0	0	1	10190	1306	46	3		3	NBL1	1	19983391	Silent	SNP	G	TCGA-42-2591-01A-01D-1526-09	4161565	19983391	229267230	3	22178											
KPNA6	23633	genome.wustl.edu	37	1	32627966	32627966	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:32627966C>T	ENST00000373625.3	+	9	845	c.752C>T	c.(751-753)tCt>tTt	p.S251F	KPNA6_ENST00000537234.1_Missense_Mutation_p.S248F|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.S256F	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	251					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCACAGGTCTCTCCTTGTTTG	0.522																																																0			1											193	184	187					1																	32627966		2203	4300	6503	32400553	SO:0001583	missense	23633			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.752C>T	1.37:g.32627966C>T	ENSP00000362728:p.Ser251Phe		32400553	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	CCDS352.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172343	0.78452	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.097222	0.64402	D	0.000001	D	0.85600	0.5734	M	0.85197	2.74	0.80722	D	1	D;D;P	0.60575	0.985;0.988;0.83	D;D;B	0.65010	0.923;0.931;0.346	D	0.87358	0.2342	10	0.72032	D	0.01	-11.1469	19.4383	0.94807	0.0:1.0:0.0:0.0	.	256;256;251	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	F	251;181;248;256;158	ENSP00000362728:S251F;ENSP00000444930:S248F;ENSP00000440609:S256F;ENSP00000415677:S158F	ENSP00000362719:S181F	S	+	2	0	KPNA6	32400553	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.620000	0.61226	2.697000	0.92050	0.655000	0.94253	TCT		0.522	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		T	32627966	C	T	32627966	3	4	404	1	0	0	0	0	1	0	0	0	8434	913	32	2	786	2	KPNA6	1	32627966	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	12644575	32627966	216622655	4	22179											
TMEM59	9528	genome.wustl.edu	37	1	54509155	54509155	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:54509155G>A	ENST00000234831.5	-	4	683	c.434C>T	c.(433-435)aCt>aTt	p.T145I	TMEM59_ENST00000371344.1_Missense_Mutation_p.T14I|TMEM59_ENST00000371348.1_Missense_Mutation_p.T14I|TMEM59_ENST00000371341.1_Missense_Mutation_p.T14I	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	145					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCTCACCAGAGTTAGAGGAAA	0.343																																																0			1											63	65	64					1																	54509155		2203	4300	6503	54281743	SO:0001583	missense	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.434C>T	1.37:g.54509155G>A	ENSP00000234831:p.Thr145Ile		54281743	B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	ENST00000234831.5	37	CCDS586.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219564	0.58560	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341;ENST00000371338;ENST00000420738;ENST00000440019;ENST00000452421	T;T	0.46819	0.86;0.86	5.64	5.64	0.86602	.	0.046450	0.85682	D	0.000000	T	0.66858	0.2832	M	0.65975	2.015	0.80722	D	1	B;B;D;B	0.69078	0.276;0.276;0.997;0.433	B;B;D;B	0.64321	0.1;0.1;0.924;0.175	T	0.63391	-0.6648	10	0.44086	T	0.13	-1.3707	19.8946	0.96949	0.0:0.0:1.0:0.0	.	156;156;145;145	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	I	14;14;145;14;156;14;14;156	ENSP00000234831:T145I;ENSP00000397772:T156I	ENSP00000234831:T145I	T	-	2	0	TMEM59	54281743	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.620000	0.83070	2.937000	0.99478	0.650000	0.86243	ACT		0.343	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		A	54509155	G	A	54509155	3	1	404	1	0	0	0	0	1	0	0	0	16185	1029	36	2	557	2	TMEM59	1	54509155	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	21881189	54509155	194741466	5	22180											
CNN3	1266	genome.wustl.edu	37	1	95369073	95369073	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:95369073G>C	ENST00000370206.4	-	2	448	c.65C>G	c.(64-66)tCc>tGc	p.S22C	CNN3_ENST00000394202.4_Missense_Mutation_p.S22C|CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000538964.1_Missense_Mutation_p.S22C	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	22					actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		ATCATACTTGGAAGCAATCTG	0.448																																																0			1											103	96	98					1																	95369073		2203	4300	6503	95141661	SO:0001583	missense	1266			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.65C>G	1.37:g.95369073G>C	ENSP00000359225:p.Ser22Cys		95141661	B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	37	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458416	0.63401	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202	T;T;T	0.61274	0.12;0.12;0.12	5.85	4.93	0.64822	Calponin homology domain (2);	0.221248	0.44902	D	0.000416	T	0.52645	0.1747	M	0.82056	2.57	0.80722	D	1	P;B	0.45531	0.86;0.056	P;B	0.50440	0.641;0.082	T	0.62613	-0.6817	10	0.51188	T	0.08	-6.357	4.5552	0.12133	0.2034:0.0:0.6236:0.173	.	22;22	F8WA86;Q15417	.;CNN3_HUMAN	C	22	ENSP00000359225:S22C;ENSP00000437665:S22C;ENSP00000377752:S22C	ENSP00000359225:S22C	S	-	2	0	CNN3	95141661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.932000	0.63476	1.458000	0.47871	0.655000	0.94253	TCC		0.448	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		C	95369073	G	C	95369073	3	2	404	1	0	0	0	0	1	0	0	0	3611	1174	41	3	948	3	CNN3	1	95369073	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	40859918	95369073	153881548	6	22181											
LPPR4	9890	genome.wustl.edu	37	1	99772459	99772459	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:99772459C>T	ENST00000370185.3	+	7	2682	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	LPPR4_ENST00000457765.1_Missense_Mutation_p.R671W|LPPR4_ENST00000370184.1_Missense_Mutation_p.R571W	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		729					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTCCACCCTGCGGAGAAAGGG	0.512																																																0			1											60	58	59					1																	99772459		2203	4300	6503	99545047	SO:0001583	missense	9890																														ENST00000370185.3:c.2185C>T	1.37:g.99772459C>T	ENSP00000359204:p.Arg729Trp		99545047	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341992	0.61073	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.34859	1.88;1.78;1.34	6.02	-1.29	0.09288	.	0.056560	0.64402	D	0.000002	T	0.44973	0.1319	L	0.61218	1.895	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.55114	-0.8191	9	.	.	.	-23.2012	19.0244	0.92926	0.466:0.534:0.0:0.0	.	671;729	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	W	729;671;571	ENSP00000359204:R729W;ENSP00000394913:R671W;ENSP00000359203:R571W	.	R	+	1	2	RP4-788L13.1	99545047	0.994000	0.37717	0.889000	0.34880	0.978000	0.69477	0.990000	0.29642	-0.097000	0.12307	-0.828000	0.03084	CGG		0.512	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99772459	C	T	99772459	3	4	404	1	0	0	0	0	1	0	0	0	8927	759	27	1	2211	1	LPPR4	1	99772459	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	4403386	99772459	149478162	7	22182											
ETV3L	440695	genome.wustl.edu	37	1	157067751	157067751	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:157067751C>A	ENST00000454449.2	-	4	800	c.516G>T	c.(514-516)caG>caT	p.Q172H		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	172					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCACCATGGCCTGATGGGCAA	0.587																																																0			1											67	65	66					1																	157067751		2203	4300	6503	155334375	SO:0001583	missense	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.516G>T	1.37:g.157067751C>A	ENSP00000430271:p.Gln172His		155334375		Missense_Mutation	SNP	ENST00000454449.2	37	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	2.119	-0.401797	0.04865	.	.	ENSG00000253831	ENST00000454449	T	0.08634	3.07	3.76	0.645	0.17782	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.30664	0.289	B	0.25405	0.06	T	0.46289	-0.9202	9	0.59425	D	0.04	.	4.3078	0.10956	0.4018:0.486:0.0:0.1121	.	172	Q6ZN32	ETV3L_HUMAN	H	172	ENSP00000430271:Q172H	ENSP00000430271:Q172H	Q	-	3	2	ETV3L	155334375	0.077000	0.21312	0.005000	0.12908	0.010000	0.07245	0.256000	0.18351	0.140000	0.18849	0.555000	0.69702	CAG		0.587	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		A	157067751	C	A	157067751	3	1	404	1	0	0	0	0	1	0	0	0	5280	680	24	3	577	3	ETV3L	1	157067751	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	57295292	157067751	92182870	8	22183											
ATF6	22926	genome.wustl.edu	37	1	161771867	161771867	+	Silent	SNP	T	T	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:161771867T>G	ENST00000367942.3	+	7	781	c.714T>G	c.(712-714)ccT>ccG	p.P238P		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	238					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TGTCTCAGCCTACTGTGGTAC	0.502																																																0			1											133	116	122					1																	161771867		2203	4300	6503	160038491	SO:0001819	synonymous_variant	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.714T>G	1.37:g.161771867T>G			160038491	O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	CCDS1235.1																																																																																				0.502	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		G	161771867	T	G	161771867	2	3	404	1	0	0	0	0	0	0	0	1	1084	1509	53	5		5	ATF6	1	161771867	Silent	SNP	T	TCGA-42-2591-01A-01D-1526-09	4704116	161771867	87478754	9	22184											
ACTN2	88	genome.wustl.edu	37	1	236906286	236906286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:236906286G>T	ENST00000366578.4	+	11	1364	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.E400*|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	400					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGAGCGCTTGGAACACCTGGC	0.522																																																0			1											114	106	109					1																	236906286		2203	4300	6503	234972909	SO:0001587	stop_gained	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1198G>T	1.37:g.236906286G>T	ENSP00000355537:p.Glu400*		234972909	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	39	7.629463	0.98399	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	.	.	.	5.47	5.47	0.80525	.	0.253444	0.44902	D	0.000419	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.6958	0.96026	0.0:0.0:1.0:0.0	.	.	.	.	X	400;400;169	.	ENSP00000355537:E400X	E	+	1	0	ACTN2	234972909	1.000000	0.71417	0.870000	0.34147	0.879000	0.50718	9.860000	0.99555	2.721000	0.93114	0.655000	0.94253	GAA		0.522	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		T	236906286	G	T	236906286	4	4	404	1	0	0	0	0	0	1	0	0	205	1175	41	3	1240	3	ACTN2	1	236906286	Nonsense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	75134419	236906286	12344335	10	22185											
CPSF3	51692	genome.wustl.edu	37	2	9611541	9611541	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr2:9611541A>T	ENST00000238112.3	+	17	2132	c.1926A>T	c.(1924-1926)aaA>aaT	p.K642N	CPSF3_ENST00000489403.1_3'UTR|IAH1_ENST00000482918.1_5'Flank|CPSF3_ENST00000460593.1_Missense_Mutation_p.K605N	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	642					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGGACGGGAAAACTGCCAACC	0.413																																					Colon(194;1259 2048 3845 5218 19985)											0			2											195	164	175					2																	9611541		2203	4300	6503	9528992	SO:0001583	missense	51692			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1926A>T	2.37:g.9611541A>T	ENSP00000238112:p.Lys642Asn		9528992	O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027755	0.35797	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000460593	T;T	0.44083	0.93;0.93	5.28	-1.64	0.08318	-end-processing endonuclease polyadenylation factor C-term (1);Pre-mRNA 3&apos (1);	0.113387	0.64402	D	0.000015	T	0.26048	0.0635	L	0.33753	1.03	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.12682	-1.0538	10	0.15499	T	0.54	-34.0436	11.2723	0.49147	0.4053:0.0:0.5947:0.0	.	642	Q9UKF6	CPSF3_HUMAN	N	642;364;605	ENSP00000238112:K642N;ENSP00000418957:K605N	ENSP00000238112:K642N	K	+	3	2	CPSF3	9528992	1.000000	0.71417	0.912000	0.35992	0.968000	0.65278	1.357000	0.34090	-0.121000	0.11787	-0.256000	0.11100	AAA		0.413	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		T	9611541	A	T	9611541	3	4	404	1	0	0	0	0	1	0	0	0	3826	11	1	5	1992	5	CPSF3	2	9611541	Missense_Mutation	SNP	A	TCGA-42-2591-01A-01D-1526-09		9611541	233587832	11	22186											
SUCLG1	8802	genome.wustl.edu	37	2	84686349	84686349	+	Silent	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr2:84686349G>A	ENST00000393868.2	-	1	255	c.45C>T	c.(43-45)gtC>gtT	p.V15V		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	15					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGCTGCCGGAGACCATGGTAG	0.697																																					Ovarian(48;203 1101 37206 40305 50790)											0			2											13	15	14					2																	84686349		1819	3449	5268	84539860	SO:0001819	synonymous_variant	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.45C>T	2.37:g.84686349G>A			84539860	Q9BWB0|Q9UNP6	Silent	SNP	ENST00000393868.2	37	CCDS1967.2																																																																																				0.697	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		A	84686349	G	A	84686349	2	1	404	1	0	0	0	0	0	0	0	1	15366	929	33	2		2	SUCLG1	2	84686349	Silent	SNP	G	TCGA-42-2591-01A-01D-1526-09	75074808	84686349	158513024	12	22187											
LHFPL4	375323	genome.wustl.edu	37	3	9594307	9594307	+	Silent	SNP	C	C	G	rs370835564		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr3:9594307C>G	ENST00000287585.6	-	2	342	c.57G>C	c.(55-57)tcG>tcC	p.S19S	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	33						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CGATGGCCCGCGAGTTCCGCA	0.687																																																0			3											60	67	65					3																	9594307		2203	4300	6503	9569307	SO:0001819	synonymous_variant	375323			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.57G>C	3.37:g.9594307C>G			9569307	A1L383|A4D0Q5	Silent	SNP	ENST00000287585.6	37	CCDS33691.1																																																																																				0.687	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560		G	9594307	C	G	9594307	2	3	404	1	0	0	0	0	0	0	0	1	8767	755	27	3		3	LHFPL4	3	9594307	Silent	SNP	C	TCGA-42-2591-01A-01D-1526-09		9594307	188428123	13	22188											
JAGN1	84522	genome.wustl.edu	37	3	9935022	9935022	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr3:9935022C>A	ENST00000307768.4	+	2	682	c.513C>A	c.(511-513)gaC>gaA	p.D171E		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					AGCTCCTAGACTCTTGGTTCA	0.493																																																0			3											129	86	101					3																	9935022		2203	4300	6503	9910022	SO:0001583	missense	84522			AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.513C>A	3.37:g.9935022C>A	ENSP00000306106:p.Asp171Glu		9910022		Missense_Mutation	SNP	ENST00000307768.4	37	CCDS2588.1	.	.	.	.	.	.	.	.	.	.	C	9.185	1.024636	0.19433	.	.	ENSG00000171135	ENST00000307768;ENST00000543379	.	.	.	5.73	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.75264	2.295	0.46823	D	0.999219	P	0.34934	0.476	B	0.29267	0.1	T	0.49698	-0.8912	9	0.40728	T	0.16	-24.8943	10.8856	0.46965	0.0:0.794:0.0:0.206	.	171	Q8N5M9	JAGN1_HUMAN	E	171;169	.	ENSP00000306106:D171E	D	+	3	2	JAGN1	9910022	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.049000	0.41288	0.370000	0.24538	-1.169000	0.01745	GAC		0.493	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		A	9935022	C	A	9935022	3	1	404	1	0	0	0	0	1	0	0	0	7936	564	20	3	519	3	JAGN1	3	9935022	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	340715	9935022	188087408	14	22189											
COL7A1	1294	genome.wustl.edu	37	3	48624491	48624491	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr3:48624491C>G	ENST00000328333.8	-	24	3297	c.3190G>C	c.(3190-3192)Gac>Cac	p.D1064H	COL7A1_ENST00000454817.1_Missense_Mutation_p.D1064H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1064	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGAGCATTGTCTTGAGTGGCA	0.622																																																0			3											75	63	67					3																	48624491		2202	4300	6502	48599495	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3190G>C	3.37:g.48624491C>G	ENSP00000332371:p.Asp1064His		48599495	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719470	0.30503	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.78246	-1.16;-1.16	5.91	5.91	0.95273	von Willebrand factor, type A (1);	0.000000	0.47455	D	0.000228	D	0.82972	0.5153	L	0.29908	0.895	0.45777	D	0.998661	D	0.89917	1.0	D	0.81914	0.995	D	0.84197	0.0448	10	0.72032	D	0.01	.	18.4788	0.90804	0.0:1.0:0.0:0.0	.	1064	Q02388	CO7A1_HUMAN	H	1064	ENSP00000332371:D1064H;ENSP00000412569:D1064H	ENSP00000332371:D1064H	D	-	1	0	COL7A1	48599495	0.974000	0.33945	0.981000	0.43875	0.491000	0.33493	2.698000	0.47068	2.802000	0.96397	0.655000	0.94253	GAC		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		G	48624491	C	G	48624491	3	3	404	1	0	0	0	0	1	0	0	0	3704	913	32	3	6024	3	COL7A1	3	48624491	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	38689469	48624491	149397939	15	22190											
LRIG1	26018	genome.wustl.edu	37	3	66460577	66460577	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr3:66460577C>T	ENST00000273261.3	-	7	1435	c.911G>A	c.(910-912)aGc>aAc	p.S304N	LRIG1_ENST00000383703.3_Missense_Mutation_p.S304N	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	304					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTGGCAGAAGCTCCAGCCCTT	0.567																																																0			3											142	145	144					3																	66460577		2203	4300	6503	66543267	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.911G>A	3.37:g.66460577C>T	ENSP00000273261:p.Ser304Asn		66543267	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429372	0.62844	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.26223	1.75;1.75	5.14	4.27	0.50696	.	0.092218	0.85682	D	0.000000	T	0.28797	0.0714	L	0.41632	1.29	0.38047	D	0.935657	B;B;B	0.32425	0.371;0.092;0.161	B;B;B	0.40782	0.34;0.052;0.093	T	0.25047	-1.0143	10	0.59425	D	0.04	.	13.898	0.63785	0.0:0.926:0.0:0.074	.	304;328;304	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	N	304;304;231	ENSP00000273261:S304N;ENSP00000373208:S304N	ENSP00000273261:S304N	S	-	2	0	LRIG1	66543267	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.520000	0.45554	1.308000	0.44962	0.591000	0.81541	AGC		0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		T	66460577	C	T	66460577	3	4	404	1	0	0	0	0	1	0	0	0	8944	797	28	2	2422	2	LRIG1	3	66460577	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	17836086	66460577	131561853	16	22191											
ARAP2	116984	genome.wustl.edu	37	4	36075397	36075397	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr4:36075397T>C	ENST00000303965.4	-	32	5146	c.4657A>G	c.(4657-4659)Ata>Gta	p.I1553V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1553					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTTGGTTATTGAACGTTTT	0.398																																																0			4											151	140	144					4																	36075397		2203	4300	6503	35751792	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4657A>G	4.37:g.36075397T>C	ENSP00000302895:p.Ile1553Val		35751792	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.863049	0.51482	.	.	ENSG00000047365	ENST00000303965	T	0.28666	1.6	5.41	5.41	0.78517	.	0.205870	0.43110	D	0.000606	T	0.18635	0.0447	L	0.32530	0.975	0.27693	N	0.946069	B	0.31625	0.332	B	0.26416	0.069	T	0.18903	-1.0322	10	0.02654	T	1	.	11.8348	0.52316	0.0:0.0:0.0:1.0	.	1553	Q8WZ64	ARAP2_HUMAN	V	1553	ENSP00000302895:I1553V	ENSP00000302895:I1553V	I	-	1	0	ARAP2	35751792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.858000	0.48356	2.051000	0.60960	0.482000	0.46254	ATA		0.398	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		C	36075397	T	C	36075397	3	2	404	1	0	0	0	0	1	0	0	0	839	1493	52	4	465	4	ARAP2	4	36075397	Missense_Mutation	SNP	T	TCGA-42-2591-01A-01D-1526-09		36075397	155078879	17	22192											
GABRA4	2557	genome.wustl.edu	37	4	46994890	46994890	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr4:46994890T>A	ENST00000264318.3	-	2	1142	c.160A>T	c.(160-162)Agt>Tgt	p.S54C	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	54					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					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)	TCGAGCAAACTGTCCAGGATG	0.478																																					Ovarian(6;283 369 8234 12290 33402)											0			4											148	136	140					4																	46994890		2203	4300	6503	46689647	SO:0001583	missense	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.160A>T	4.37:g.46994890T>A	ENSP00000264318:p.Ser54Cys		46689647	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665741	0.29604	.	.	ENSG00000109158	ENST00000264318	T	0.79940	-1.32	5.46	3.04	0.35103	Neurotransmitter-gated ion-channel ligand-binding (3);	0.221139	0.47852	D	0.000214	D	0.82733	0.5101	M	0.67700	2.07	0.34365	D	0.691362	D	0.54207	0.965	P	0.54544	0.755	D	0.85183	0.1005	10	0.87932	D	0	.	6.926	0.24416	0.0:0.1832:0.0:0.8168	.	54	P48169	GBRA4_HUMAN	C	54	ENSP00000264318:S54C	ENSP00000264318:S54C	S	-	1	0	GABRA4	46689647	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	0.379000	0.20585	0.385000	0.24970	0.377000	0.23210	AGT		0.478	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			A	46994890	T	A	46994890	3	1	404	1	0	0	0	0	1	0	0	0	6163	1580	55	5	1536	5	GABRA4	4	46994890	Missense_Mutation	SNP	T	TCGA-42-2591-01A-01D-1526-09	10919493	46994890	144159386	18	22193											
MMRN1	22915	genome.wustl.edu	37	4	90856203	90856203	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr4:90856203G>A	ENST00000394980.1	+	7	1691	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.E458K|MMRN1_ENST00000508372.1_Missense_Mutation_p.E200K			Q13201	MMRN1_HUMAN	multimerin 1	458					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGATATAGTGGAACTAAGGAA	0.373																																																0			4											68	68	68					4																	90856203		2201	4299	6500	91075226	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1372G>A	4.37:g.90856203G>A	ENSP00000378431:p.Glu458Lys		91075226	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	5.546	0.285666	0.10513	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.70986	-0.16;-0.16;-0.53	5.12	3.38	0.38709	.	0.616341	0.16113	N	0.229002	T	0.56529	0.1991	L	0.27053	0.805	0.80722	D	1	B	0.21606	0.058	B	0.21151	0.033	T	0.47420	-0.9119	10	0.28530	T	0.3	.	11.774	0.51975	0.1454:0.0:0.8546:0.0	.	458	Q13201	MMRN1_HUMAN	K	458;458;200	ENSP00000378431:E458K;ENSP00000264790:E458K;ENSP00000426461:E200K	ENSP00000264790:E458K	E	+	1	0	MMRN1	91075226	0.972000	0.33761	0.042000	0.18584	0.034000	0.12701	2.175000	0.42491	0.806000	0.34183	0.591000	0.81541	GAA		0.373	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		A	90856203	G	A	90856203	3	1	404	1	0	0	0	0	1	0	0	0	9670	1175	41	2	1394	2	MMRN1	4	90856203	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	43861313	90856203	100298073	19	22194											
LRP2BP	55805	genome.wustl.edu	37	4	186291955	186291955	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr4:186291955C>T	ENST00000328559.7	-	7	1628	c.817G>A	c.(817-819)Gat>Aat	p.D273N	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Missense_Mutation_p.D273N|LRP2BP_ENST00000362004.3_Missense_Mutation_p.D275N|LRP2BP_ENST00000510776.1_Missense_Mutation_p.D247N	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	273						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TGAACCTCATCATAGTCAGCG	0.502																																																0			4											124	101	109					4																	186291955		2203	4300	6503	186528949	SO:0001583	missense	55805			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.817G>A	4.37:g.186291955C>T	ENSP00000332681:p.Asp273Asn		186528949	A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102604	0.76983	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.49720	0.77;0.8;0.79;0.8	5.64	5.64	0.86602	Tetratricopeptide-like helical (1);	0.219163	0.47093	D	0.000258	T	0.57475	0.2056	L	0.29908	0.895	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.45205	-0.9277	10	0.21540	T	0.41	-39.9609	18.635	0.91374	0.0:1.0:0.0:0.0	.	247;273	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	N	275;273;247;273	ENSP00000354846:D275N;ENSP00000332681:D273N;ENSP00000424610:D247N;ENSP00000426203:D273N	ENSP00000332681:D273N	D	-	1	0	LRP2BP	186528949	0.999000	0.42202	0.957000	0.39632	0.250000	0.25880	5.295000	0.65692	2.937000	0.99478	0.650000	0.86243	GAT		0.502	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		T	186291955	C	T	186291955	3	4	404	1	0	0	0	0	1	0	0	0	8957	826	29	2	234	2	LRP2BP	4	186291955	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	95435752	186291955	4862321	20	22195											
SLC30A5	64924	genome.wustl.edu	37	5	68413108	68413108	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr5:68413108A>C	ENST00000396591.3	+	11	1934	c.1324A>C	c.(1324-1326)Agt>Cgt	p.S442R	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	442					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTGACCAATAGTCTGGGCCT	0.443																																																0			5											262	256	258					5																	68413108		2203	4300	6503	68448864	SO:0001583	missense	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1324A>C	5.37:g.68413108A>C	ENSP00000379836:p.Ser442Arg		68448864	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093166	0.76756	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	D	0.85258	-1.96	5.53	5.53	0.82687	.	0.036392	0.85682	D	0.000000	D	0.93766	0.8007	M	0.91510	3.215	0.80722	D	1	D;D;P	0.56287	0.975;0.969;0.93	D;P;D	0.73380	0.98;0.891;0.967	D	0.94944	0.8094	10	0.87932	D	0	.	15.4857	0.75564	1.0:0.0:0.0:0.0	.	271;271;442	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	R	442;55	ENSP00000379836:S442R	ENSP00000379836:S442R	S	+	1	0	SLC30A5	68448864	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	9.139000	0.94554	2.324000	0.78689	0.533000	0.62120	AGT		0.443	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			C	68413108	A	C	68413108	3	2	404	1	0	0	0	0	1	0	0	0	14561	420	15	5	1454	5	SLC30A5	5	68413108	Missense_Mutation	SNP	A	TCGA-42-2591-01A-01D-1526-09		68413108	112502152	21	22196											
GRM6	2916	genome.wustl.edu	37	5	178410092	178410092	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr5:178410092A>C	ENST00000517717.1	-	10	2293	c.2255T>G	c.(2254-2256)aTc>aGc	p.I752S	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.I752S			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	752					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)			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)		CAGGCAGCCGATGAGAGACAG	0.632																																																0			5											111	94	100					5																	178410092		2203	4300	6503	178342698	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.2255T>G	5.37:g.178410092A>C	ENSP00000430767:p.Ile752Ser		178342698		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272267	0.80580	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.88431	-2.38;-2.38	5.17	5.17	0.71159	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.91503	0.7317	L	0.49513	1.565	0.51482	D	0.999928	D;D	0.61697	0.957;0.99	P;P	0.62740	0.836;0.906	D	0.92021	0.5626	9	0.62326	D	0.03	.	13.262	0.60111	1.0:0.0:0.0:0.0	.	752;46	O15303;Q5HYM4	GRM6_HUMAN;.	S	752	ENSP00000231188:I752S;ENSP00000430767:I752S	ENSP00000231188:I752S	I	-	2	0	GRM6	178342698	1.000000	0.71417	0.963000	0.40424	0.642000	0.38348	7.344000	0.79328	2.091000	0.63221	0.254000	0.18369	ATC		0.632	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			C	178410092	A	C	178410092	3	2	404	1	0	0	0	0	1	0	0	0	6801	333	12	5	386	5	GRM6	5	178410092	Missense_Mutation	SNP	A	TCGA-42-2591-01A-01D-1526-09	109996984	178410092	2505168	22	22197											
DNAH8	1769	genome.wustl.edu	37	6	38791347	38791347	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:38791347G>C	ENST00000359357.3	+	26	3333	c.3079G>C	c.(3079-3081)Gct>Cct	p.A1027P	SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1244P|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1027P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1027					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAATTTTTGGCTAACAACCC	0.318																																																0			6											80	82	81					6																	38791347		2202	4299	6501	38899325	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3079G>C	6.37:g.38791347G>C	ENSP00000352312:p.Ala1027Pro		38899325	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	10.77	1.442921	0.25987	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26223	1.79;1.78;1.75	5.82	4.95	0.65309	.	0.257150	0.38217	N	0.001767	T	0.17408	0.0418	M	0.66939	2.045	0.39563	D	0.969158	P	0.40794	0.729	B	0.38880	0.284	T	0.02378	-1.1168	10	0.39692	T	0.17	.	14.695	0.69115	0.0:0.0:0.8548:0.1452	.	1027	Q96JB1	DYH8_HUMAN	P	1232;1232;1027;1027	ENSP00000333363:A1232P;ENSP00000352312:A1027P;ENSP00000402294:A1027P	ENSP00000333363:A1232P	A	+	1	0	DNAH8	38899325	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	4.564000	0.60830	1.454000	0.47793	0.563000	0.77884	GCT		0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38791347	G	C	38791347	3	2	404	1	0	0	0	0	1	0	0	0	4607	1203	42	3	3173	3	DNAH8	6	38791347	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09		38791347	132323720	23	22198											
HCRTR2	3062	genome.wustl.edu	37	6	55119999	55119999	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:55119999C>T	ENST00000370862.3	+	3	804	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	156					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTATGCAATCTGTCACCCTT	0.468																																																0			6											157	132	140					6																	55119999		2203	4300	6503	55227958	SO:0001819	synonymous_variant	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.468C>T	6.37:g.55119999C>T			55227958	Q5VTM0	Silent	SNP	ENST00000370862.3	37	CCDS4956.1																																																																																				0.468	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			T	55119999	C	T	55119999	2	4	404	1	0	0	0	0	0	0	0	1	7002	903	32	2		2	HCRTR2	6	55119999	Silent	SNP	C	TCGA-42-2591-01A-01D-1526-09	16328652	55119999	115995068	24	22199											
KLHL32	114792	genome.wustl.edu	37	6	97561812	97561812	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:97561812G>T	ENST00000369261.4	+	7	1144	c.781G>T	c.(781-783)Gtc>Ttc	p.V261F	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.V225F|KLHL32_ENST00000539200.1_Missense_Mutation_p.V192F	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	261										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AACAGCCCTTGTCAACGAGGC	0.527																																																0			6											128	103	112					6																	97561812		2203	4300	6503	97668533	SO:0001583	missense	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.781G>T	6.37:g.97561812G>T	ENSP00000358265:p.Val261Phe		97668533	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876450	0.33162	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.76186	-0.96;-0.99;-1.0	5.09	5.09	0.68999	.	0.057585	0.64402	D	0.000001	T	0.61311	0.2337	M	0.74467	2.265	0.80722	D	1	B;B;B;P	0.35383	0.215;0.177;0.026;0.498	B;B;B;B	0.32928	0.107;0.049;0.018;0.155	T	0.71224	-0.4656	10	0.87932	D	0	.	8.5781	0.33612	0.2076:0.0:0.7924:0.0	.	192;225;261;261	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	F	261;225;192	ENSP00000358265:V261F;ENSP00000440382:V225F;ENSP00000441527:V192F	ENSP00000358265:V261F	V	+	1	0	KLHL32	97668533	0.987000	0.35691	0.968000	0.41197	0.558000	0.35554	1.941000	0.40233	2.632000	0.89209	0.655000	0.94253	GTC		0.527	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		T	97561812	G	T	97561812	3	4	404	1	0	0	0	0	1	0	0	0	8386	1377	48	3	803	3	KLHL32	6	97561812	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	42441813	97561812	73553255	25	22200											
MAP3K5	4217	genome.wustl.edu	37	6	137019684	137019684	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:137019684C>T	ENST00000359015.4	-	4	1109	c.749G>A	c.(748-750)tGc>tAc	p.C250Y		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	250					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AAGAGGTAAGCAGATGGGTCC	0.413																																																0			6											121	106	111					6																	137019684		2203	4300	6503	137061377	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.749G>A	6.37:g.137019684C>T	ENSP00000351908:p.Cys250Tyr		137061377	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056228	0.76074	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.09630	2.96	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.995	D;D;D	0.72982	0.979;0.977;0.913	T	0.01428	-1.1357	10	0.42905	T	0.14	.	15.9914	0.80208	0.1358:0.8642:0.0:0.0	.	330;95;250	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	Y	250;330	ENSP00000351908:C250Y	ENSP00000351908:C250Y	C	-	2	0	MAP3K5	137061377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	1.377000	0.46286	0.655000	0.94253	TGC		0.413	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			T	137019684	C	T	137019684	3	4	404	1	0	0	0	0	1	0	0	0	9253	710	25	2	3483	2	MAP3K5	6	137019684	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	39457872	137019684	34095383	26	22201											
SYNJ2	8871	genome.wustl.edu	37	6	158502243	158502243	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:158502243C>T	ENST00000355585.4	+	19	2745	c.2670C>T	c.(2668-2670)gcC>gcT	p.A890A	SYNJ2_ENST00000367112.1_5'UTR|SYNJ2_ENST00000367122.2_Silent_p.A890A|SYNJ2_ENST00000367121.3_Silent_p.A890A	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	890	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCTGGATGCCACTGTTGTAG	0.542																																																0			6											148	148	148					6																	158502243		2203	4300	6503	158422231	SO:0001819	synonymous_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2670C>T	6.37:g.158502243C>T			158422231	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	CCDS5254.1																																																																																				0.542	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158502243	C	T	158502243	2	4	404	1	0	0	0	0	0	0	0	1	15453	581	21	2		2	SYNJ2	6	158502243	Silent	SNP	C	TCGA-42-2591-01A-01D-1526-09	21482559	158502243	12612824	27	22202											
BCL7B	9275	genome.wustl.edu	37	7	72954225	72954225	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr7:72954225C>T	ENST00000223368.2	-	4	846	c.423G>A	c.(421-423)caG>caA	p.Q141Q	BCL7B_ENST00000411832.1_Intron|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	141							actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCAGGATCTCCTGGCCCAGCG	0.602																																																0			7											81	73	76					7																	72954225		2203	4300	6503	72592161	SO:0001819	synonymous_variant	9275			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.423G>A	7.37:g.72954225C>T			72592161	A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Silent	SNP	ENST00000223368.2	37	CCDS5550.1																																																																																				0.602	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252194.1	NM_001707		T	72954225	C	T	72954225	2	4	404	1	0	0	0	0	0	0	0	1	1379	680	24	2		2	BCL7B	7	72954225	Silent	SNP	C	TCGA-42-2591-01A-01D-1526-09		72954225	86184438	28	22203											
COL1A2	1278	genome.wustl.edu	37	7	94040248	94040248	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr7:94040248C>T	ENST00000297268.6	+	22	1716	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	415					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAGAGCTGGCGTCATGGTAA	0.463										HNSCC(75;0.22)																																						0			7											150	145	147					7																	94040248		2203	4300	6503	93878184	SO:0001819	synonymous_variant	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1245C>T	7.37:g.94040248C>T			93878184	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	CCDS34682.1																																																																																				0.463	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94040248	C	T	94040248	2	4	404	1	0	0	0	0	0	0	0	1	3678	755	27	1		1	COL1A2	7	94040248	Silent	SNP	C	TCGA-42-2591-01A-01D-1526-09	21086023	94040248	65098415	29	22204											
PRSS55	203074	genome.wustl.edu	37	8	10390534	10390534	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr8:10390534G>C	ENST00000328655.3	+	4	757	c.717G>C	c.(715-717)aaG>aaC	p.K239N	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.K239N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCGGATACAAGAATGAGAGCT	0.483																																																0			8											120	102	108					8																	10390534		2203	4300	6503	10427944	SO:0001583	missense	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.717G>C	8.37:g.10390534G>C	ENSP00000333003:p.Lys239Asn		10427944	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.349436	0.01266	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.89270	-2.49;-2.49	5.42	-0.217	0.13149	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.179350	0.02646	N	0.105917	T	0.80303	0.4598	N	0.17838	0.53	0.09310	N	1	P	0.44521	0.837	B	0.38755	0.281	T	0.69506	-0.5127	10	0.18710	T	0.47	.	9.148	0.36944	0.0748:0.0:0.4447:0.4805	.	239	Q6UWB4	PRS55_HUMAN	N	239	ENSP00000333003:K239N;ENSP00000430459:K239N	ENSP00000333003:K239N	K	+	3	2	PRSS55	10427944	0.045000	0.20229	0.000000	0.03702	0.049000	0.14656	0.248000	0.18198	-0.187000	0.10516	-1.378000	0.01179	AAG		0.483	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		C	10390534	G	C	10390534	3	2	404	1	0	0	0	0	1	0	0	0	12637	933	33	3	731	3	PRSS55	8	10390534	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09		10390534	135973488	30	22205											
C8orf34	116328	genome.wustl.edu	37	8	69445372	69445372	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr8:69445372A>G	ENST00000539993.1	+	7	1384	c.835A>G	c.(835-837)Atg>Gtg	p.M279V	C8orf34_ENST00000518698.1_Missense_Mutation_p.M365V|C8orf34_ENST00000348340.2_Missense_Mutation_p.M279V|C8orf34_ENST00000337103.4_Missense_Mutation_p.M254V			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	279										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGATGATGCAATGGAATTGCT	0.338																																																0			8											81	81	81					8																	69445372		2203	4299	6502	69607926	SO:0001583	missense	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.835A>G	8.37:g.69445372A>G	ENSP00000438159:p.Met279Val		69607926	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	A	15.34	2.804971	0.50315	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.50548	0.74;0.79;0.78	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	L	0.60455	1.87	0.43841	D	0.996422	P;P	0.48911	0.917;0.917	D;D	0.63488	0.915;0.915	T	0.62120	-0.6921	9	.	.	.	-14.3505	15.6522	0.77108	1.0:0.0:0.0:0.0	.	279;279	Q49A92;Q49A92-3	CH034_HUMAN;.	V	365;279;279;254	ENSP00000427820:M365V;ENSP00000438159:M279V;ENSP00000337174:M254V	.	M	+	1	0	C8orf34	69607926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.330000	0.90019	2.108000	0.64289	0.482000	0.46254	ATG		0.338	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		G	69445372	A	G	69445372	3	3	404	1	0	0	0	0	1	0	0	0	2422	101	4	4	782	4	C8orf34	8	69445372	Missense_Mutation	SNP	A	TCGA-42-2591-01A-01D-1526-09	59054838	69445372	76918650	31	22206											
SMC5	23137	genome.wustl.edu	37	9	72920249	72920249	+	Silent	SNP	A	A	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr9:72920249A>G	ENST00000361138.5	+	11	1609	c.1551A>G	c.(1549-1551)caA>caG	p.Q517Q		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	517	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTGAAAGTCAAGAAGATATGG	0.308																																																0			9											82	88	86					9																	72920249		2203	4299	6502	72110069	SO:0001819	synonymous_variant	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1551A>G	9.37:g.72920249A>G			72110069	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	ENST00000361138.5	37	CCDS6632.1																																																																																				0.308	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		G	72920249	A	G	72920249	2	3	404	1	0	0	0	0	0	0	0	1	14789	69	3	4		4	SMC5	9	72920249	Silent	SNP	A	TCGA-42-2591-01A-01D-1526-09		72920249	68293182	32	22207											
KLF9	687	genome.wustl.edu	37	9	73002792	73002792	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr9:73002792A>C	ENST00000377126.2	-	2	1895	c.635T>G	c.(634-636)tTc>tGc	p.F212C		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	212					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						ACTCCTCATGAAGCGCTTCTC	0.587																																																0			9											84	79	81					9																	73002792		2203	4300	6503	72192612	SO:0001583	missense	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.635T>G	9.37:g.73002792A>C	ENSP00000366330:p.Phe212Cys		72192612	B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495153	0.85069	.	.	ENSG00000119138	ENST00000377126	D	0.83755	-1.76	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000008	D	0.92064	0.7485	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93443	0.6795	10	0.87932	D	0	.	15.5459	0.76101	1.0:0.0:0.0:0.0	.	212	Q13886	KLF9_HUMAN	C	212	ENSP00000366330:F212C	ENSP00000366330:F212C	F	-	2	0	KLF9	72192612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.255000	0.95524	2.058000	0.61347	0.533000	0.62120	TTC		0.587	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		C	73002792	A	C	73002792	3	2	404	1	0	0	0	0	1	0	0	0	8353	246	9	5	103	5	KLF9	9	73002792	Missense_Mutation	SNP	A	TCGA-42-2591-01A-01D-1526-09	82543	73002792	68210639	33	22208											
TEX10	54881	genome.wustl.edu	37	9	103108399	103108399	+	Silent	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr9:103108399G>A	ENST00000374902.4	-	4	1268	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	TEX10_ENST00000537512.1_Silent_p.S299S|TEX10_ENST00000535814.1_Silent_p.S367S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	364						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TCCACAGAAGGGAAATAATAT	0.373																																																0			9											71	73	73					9																	103108399		2203	4299	6502	102148220	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1092C>T	9.37:g.103108399G>A			102148220	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	CCDS6748.1																																																																																				0.373	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		A	103108399	G	A	103108399	2	1	404	1	0	0	0	0	0	0	0	1	15772	1219	43	2		2	TEX10	9	103108399	Silent	SNP	G	TCGA-42-2591-01A-01D-1526-09	30105607	103108399	38105032	34	22209											
TACC2	10579	genome.wustl.edu	37	10	123842938	123842938	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr10:123842938G>A	ENST00000369005.1	+	4	1263	c.923G>A	c.(922-924)aGg>aAg	p.R308K	TACC2_ENST00000334433.3_Missense_Mutation_p.R308K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.R308K|TACC2_ENST00000453444.2_Missense_Mutation_p.R308K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R308K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	308					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAATTCCTCAGGGCCTGCCAT	0.587																																																0			10											43	52	49					10																	123842938		2203	4300	6503	123832928	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.923G>A	10.37:g.123842938G>A	ENSP00000358001:p.Arg308Lys		123832928	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528485	0.27299	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02812	4.16;4.15;4.16;4.16;4.15	5.25	2.1	0.27182	.	1.362200	0.05102	N	0.487248	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17038	0.02;0.02;0.02	B;B;B	0.14578	0.011;0.011;0.011	T	0.41360	-0.9513	10	0.02654	T	1	0.0616	6.7022	0.23230	0.307:0.0:0.693:0.0	.	308;308;308	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	K	308;308;308;308;308;298	ENSP00000358001:R308K;ENSP00000424467:R308K;ENSP00000427618:R308K;ENSP00000334280:R308K;ENSP00000395048:R308K	ENSP00000334280:R308K	R	+	2	0	TACC2	123832928	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.595000	0.24029	0.742000	0.32697	0.555000	0.69702	AGG		0.587	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			A	123842938	G	A	123842938	3	1	404	1	0	0	0	0	1	0	0	0	15502	1000	35	2	933	2	TACC2	10	123842938	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09		123842938	11691809	35	22210											
OR51D1	390038	genome.wustl.edu	37	11	4661045	4661045	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr11:4661045C>G	ENST00000357605.2	+	1	101	c.25C>G	c.(25-27)Cct>Gct	p.P9A		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTTGGTCCCTATCATAGC	0.478																																																0			11											144	138	140					11																	4661045		2201	4298	6499	4617621	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.25C>G	11.37:g.4661045C>G	ENSP00000350222:p.Pro9Ala		4617621	B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	9.655	1.142529	0.21205	.	.	ENSG00000197428	ENST00000357605	T	0.00001	9.91	4.59	2.72	0.32119	.	0.000000	0.39210	N	0.001426	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	B	0.27498	0.18	B	0.19391	0.025	T	0.00018	-1.2372	10	0.16896	T	0.51	.	6.4226	0.21752	0.0:0.7838:0.0:0.2162	.	9	Q8NGF3	O51D1_HUMAN	A	9	ENSP00000350222:P9A	ENSP00000350222:P9A	P	+	1	0	OR51D1	4617621	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.197000	0.17197	1.288000	0.44600	-0.259000	0.10710	CCT		0.478	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		G	4661045	C	G	4661045	3	3	404	1	0	0	0	0	1	0	0	0	11093	623	22	3	27	3	OR51D1	11	4661045	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09		4661045	130345471	36	22211											
MS4A5	64232	genome.wustl.edu	37	11	60201361	60201361	+	Missense_Mutation	SNP	C	C	A	rs142678653		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr11:60201361C>A	ENST00000300190.2	+	4	549	c.463C>A	c.(463-465)Cag>Aag	p.Q155K		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	155						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CCAAAATAGTCAGTGTAAGGC	0.368																																																0			11						C	LYS/GLN	0,4406		0,0,2203	203	193	196		463	0.8	0	11	dbSNP_134	196	1,8599	1.2+/-3.3	0,1,4299	no	missense	MS4A5	NM_023945.2	53	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	155/201	60201361	1,13005	2203	4300	6503	59957937	SO:0001583	missense	64232			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.463C>A	11.37:g.60201361C>A	ENSP00000300190:p.Gln155Lys		59957937	Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	C	0.439	-0.899369	0.02472	0.0	1.16E-4	ENSG00000166930	ENST00000300190	T	0.02197	4.4	3.99	0.843	0.18935	.	1.788210	0.02869	N	0.131265	T	0.04588	0.0125	M	0.63428	1.95	0.09310	N	1	B	0.25441	0.126	B	0.26094	0.066	T	0.53753	-0.8394	10	0.20046	T	0.44	5.9004	11.9447	0.52922	0.0:0.4185:0.5815:0.0	.	155	Q9H3V2	MS4A5_HUMAN	K	155	ENSP00000300190:Q155K	ENSP00000300190:Q155K	Q	+	1	0	MS4A5	59957937	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.226000	0.17776	0.077000	0.16863	0.655000	0.94253	CAG		0.368	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			A	60201361	C	A	60201361	3	1	404	1	0	0	0	0	1	0	0	0	9863	827	29	3	477	3	MS4A5	11	60201361	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	55540316	60201361	74805155	37	22212											
AHNAK	79026	genome.wustl.edu	37	11	62286674	62286674	+	Missense_Mutation	SNP	T	T	C	rs144349823		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr11:62286674T>C	ENST00000378024.4	-	5	15489	c.15215A>G	c.(15214-15216)aAa>aGa	p.K5072R	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5072					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACGTCGACTTTGAGTGCAGC	0.448													T|||	1	0.000199681	8e-04	0	5008	,	,		20695	0		0	False		,,,				2504	0															0			11						T	ARG/LYS,	3,4401	6.2+/-15.9	0,3,2199	151	156	155		15215,	3.6	0.6	11	dbSNP_134	155	0,8598		0,0,4299	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	26,	0,3,6498	CC,CT,TT		0.0,0.0681,0.0231	probably-damaging,	5072/5891,	62286674	3,12999	2202	4299	6501	62043250	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15215A>G	11.37:g.62286674T>C	ENSP00000367263:p.Lys5072Arg		62043250	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.437996	0.25900	6.81E-4	0.0	ENSG00000124942	ENST00000378024	T	0.01560	4.77	4.71	3.58	0.41010	.	0.000000	0.45606	D	0.000360	T	0.05777	0.0151	L	0.60904	1.88	0.09310	N	1	D	0.64830	0.994	D	0.79108	0.992	T	0.29579	-1.0007	10	0.16420	T	0.52	-4.8228	8.498	0.33141	0.0:0.1662:0.0:0.8338	.	5072	Q09666	AHNK_HUMAN	R	5072	ENSP00000367263:K5072R	ENSP00000367263:K5072R	K	-	2	0	AHNAK	62043250	.	.	0.625000	0.29200	0.064000	0.16182	.	.	0.774000	0.33427	0.443000	0.29094	AAA		0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62286674	T	C	62286674	3	2	404	1	0	0	0	0	1	0	0	0	414	1841	64	4	2577	4	AHNAK	11	62286674	Missense_Mutation	SNP	T	TCGA-42-2591-01A-01D-1526-09	2085313	62286674	72719842	38	22213											
HNRNPA1	3178	genome.wustl.edu	37	12	54676365	54676365	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr12:54676365G>T	ENST00000340913.6	+	6	645	c.592G>T	c.(592-594)Ggt>Tgt	p.G198C	CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.G198C|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.G198C|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.G198C|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	198	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGGTCGAAGTGGTTCTGGAAA	0.413																																					Colon(83;502 1289 8436 16406 24870)											0			12											90	90	90					12																	54676365		2203	4300	6503	52962632	SO:0001583	missense	3178			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.592G>T	12.37:g.54676365G>T	ENSP00000341826:p.Gly198Cys		52962632	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035231	0.54896	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550482	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	3.1	3.1	0.35709	.	0.000000	0.47852	D	0.000215	D	0.88325	0.6406	M	0.82630	2.6	0.38209	D	0.940428	D;D;D;D;B;D;D	0.58620	0.983;0.972;0.972;0.972;0.011;0.972;0.983	B;B;B;B;B;B;B	0.40825	0.184;0.341;0.341;0.341;0.015;0.341;0.284	D	0.91522	0.5235	10	0.87932	D	0	.	12.4584	0.55718	0.0:0.0:1.0:0.0	.	176;198;198;198;198;198;198	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;.;ROA1_HUMAN	C	198;198;198;198;198;198;198;198;217;69	ENSP00000448617:G198C;ENSP00000341826:G198C;ENSP00000333504:G198C;ENSP00000447260:G198C;ENSP00000447782:G217C;ENSP00000446486:G69C	ENSP00000333504:G198C	G	+	1	0	HNRNPA1	52962632	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	2.796000	0.47869	2.053000	0.61076	0.289000	0.19496	GGT		0.413	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		T	54676365	G	T	54676365	3	4	404	1	0	0	0	0	1	0	0	0	7257	1348	47	3	614	3	HNRNPA1	12	54676365	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09		54676365	79175530	39	22214											
FREM2	341640	genome.wustl.edu	37	13	39338457	39338457	+	Silent	SNP	G	G	A	rs139030731		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr13:39338457G>A	ENST00000280481.7	+	3	5496	c.5280G>A	c.(5278-5280)acG>acA	p.T1760T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1760	Calx-beta 1.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACAAGTTAACGTACCAGAATT	0.328																																																0			13						G		1,4405	2.1+/-5.4	0,1,2202	83	85	85		5280	0.2	1	13	dbSNP_134	85	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	FREM2	NM_207361.4		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		1760/3170	39338457	2,13002	2203	4299	6502	38236457	SO:0001819	synonymous_variant	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5280G>A	13.37:g.39338457G>A			38236457	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.328	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39338457	G	A	39338457	2	1	404	1	0	0	0	0	0	0	0	1	6045	1132	40	1		1	FREM2	13	39338457	Silent	SNP	G	TCGA-42-2591-01A-01D-1526-09		39338457	75831421	40	22215											
PRKD1	5587	genome.wustl.edu	37	14	30068314	30068314	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr14:30068314C>T	ENST00000331968.5	-	15	2314	c.2085G>A	c.(2083-2085)cgG>cgA	p.R695R	PRKD1_ENST00000415220.2_Silent_p.R703R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	695	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AATGAAGGTGCCGCAAAGCCA	0.368																																																0			14											99	98	98					14																	30068314		2203	4300	6503	29138065	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2085G>A	14.37:g.30068314C>T			29138065	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																				0.368	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		T	30068314	C	T	30068314	2	4	404	1	0	0	0	0	0	0	0	1	12521	726	26	2		2	PRKD1	14	30068314	Silent	SNP	C	TCGA-42-2591-01A-01D-1526-09		30068314	77281226	41	22216											
TNRC6A	27327	genome.wustl.edu	37	16	24802935	24802935	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr16:24802935C>A	ENST00000395799.3	+	6	3101	c.2972C>A	c.(2971-2973)tCc>tAc	p.S991Y	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S991Y	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	991	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GAGGAACCATCCCCAGAATCT	0.493																																																0			16											51	52	51					16																	24802935		2197	4300	6497	24710436	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2972C>A	16.37:g.24802935C>A	ENSP00000379144:p.Ser991Tyr		24710436	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629271	0.87560	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.55234	0.53;0.57	5.44	5.44	0.79542	.	0.056990	0.64402	D	0.000001	T	0.75095	0.3803	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.998;0.996	T	0.77550	-0.2546	10	0.87932	D	0	-4.2834	19.6173	0.95639	0.0:1.0:0.0:0.0	.	738;991;991	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	Y	991	ENSP00000326900:S991Y;ENSP00000379144:S991Y	ENSP00000326900:S991Y	S	+	2	0	TNRC6A	24710436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.700000	0.92200	0.655000	0.94253	TCC		0.493	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		A	24802935	C	A	24802935	3	1	404	1	0	0	0	0	1	0	0	0	16340	855	30	3	2994	3	TNRC6A	16	24802935	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09		24802935	65551818	42	22217											
SHCBP1	79801	genome.wustl.edu	37	16	46629506	46629506	+	Silent	SNP	T	T	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr16:46629506T>A	ENST00000303383.3	-	10	1688	c.1422A>T	c.(1420-1422)tcA>tcT	p.S474S		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	474					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GAAACTCTGCTGATGTCCGCA	0.448																																																0			16											104	93	97					16																	46629506		2203	4300	6503	45187007	SO:0001819	synonymous_variant	79801			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1422A>T	16.37:g.46629506T>A			45187007	Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	CCDS10720.1																																																																																				0.448	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		A	46629506	T	A	46629506	2	1	404	1	0	0	0	0	0	0	0	1	14277	1567	55	5		5	SHCBP1	16	46629506	Silent	SNP	T	TCGA-42-2591-01A-01D-1526-09	21826571	46629506	43725247	43	22218											
ITGAE	3682	genome.wustl.edu	37	17	3649118	3649118	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:3649118C>T	ENST00000263087.4	-	18	2357	c.2259G>A	c.(2257-2259)agG>agA	p.R753R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	753					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R753R(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGCTCCACTCCCTCAGGCAGC	0.582																																					NSCLC(182;635 2928 8995 38788)											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	17											122	95	104					17																	3649118		2203	4300	6503	3595867	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2259G>A	17.37:g.3649118C>T			3595867	Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	CCDS32531.1																																																																																				0.582	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		T	3649118	C	T	3649118	2	4	404	1	0	0	0	0	0	0	0	1	7885	622	22	2		2	ITGAE	17	3649118	Silent	SNP	C	TCGA-42-2591-01A-01D-1526-09		3649118	77546092	44	22219											
ALOX12	239	genome.wustl.edu	37	17	6902279	6902279	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:6902279G>C	ENST00000251535.6	+	5	603	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	184	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TAGGGCTCTGGAGATGGCCCT	0.532																																																0			17											145	131	136					17																	6902279		2203	4300	6503	6843003	SO:0001583	missense	239			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.550G>C	17.37:g.6902279G>C	ENSP00000251535:p.Glu184Gln		6843003	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831006	0.71258	.	.	ENSG00000108839	ENST00000251535	T	0.75367	-0.93	4.95	3.98	0.46160	Lipoxygenase, C-terminal (3);	0.179879	0.47852	D	0.000218	T	0.79776	0.4504	M	0.69823	2.125	0.39987	D	0.974994	D	0.56746	0.977	P	0.58210	0.835	T	0.80231	-0.1468	10	0.51188	T	0.08	-4.7196	8.5303	0.33331	0.1021:0.0:0.8979:0.0	.	184	P18054	LOX12_HUMAN	Q	184	ENSP00000251535:E184Q	ENSP00000251535:E184Q	E	+	1	0	ALOX12	6843003	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.499000	0.60380	2.741000	0.93983	0.551000	0.68910	GAG		0.532	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			C	6902279	G	C	6902279	3	2	404	1	0	0	0	0	1	0	0	0	536	1175	41	3	568	3	ALOX12	17	6902279	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	3253161	6902279	74292931	45	22220											
TP53	7157	genome.wustl.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	0.537		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"	113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(1)	17	GRCh37	CX952222	TP53	X							123	111	115					17																	7578203		2203	4300	6503	7518928	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.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met		7518928	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	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	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578203	C	T	7578203	3	4	404	1	0	0	0	0	1	0	0	0	16381	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	675924	7578203	73617007	46	22221											
FLII	2314	genome.wustl.edu	37	17	18154772	18154772	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:18154772G>A	ENST00000327031.4	-	13	1628	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	FLII_ENST00000584444.1_5'Flank|FLII_ENST00000579294.1_Missense_Mutation_p.A457V|FLII_ENST00000545457.2_Missense_Mutation_p.A413V|FLII_ENST00000379450.4_Missense_Mutation_p.A382V|FLII_ENST00000578558.1_Missense_Mutation_p.A467V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	468					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCCGCTGGGGGCCCGGGCATC	0.657																																																0			17																																								18095497	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1403C>T	17.37:g.18154772G>A	ENSP00000324573:p.Ala468Val		18095497	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	6.717	0.501035	0.12822	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.36340	1.26;1.35	5.5	1.93	0.25924	.	0.780131	0.12415	N	0.470906	T	0.18551	0.0445	N	0.25890	0.77	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.0;0.003;0.0;0.0	B;B;B;B;B	0.08055	0.0;0.0;0.003;0.001;0.0	T	0.29610	-1.0006	10	0.08179	T	0.78	-13.3405	3.3715	0.07223	0.1494:0.1192:0.5137:0.2176	.	382;382;468;468;437	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	V	468;468;382	ENSP00000324573:A468V;ENSP00000368763:A382V	ENSP00000324573:A468V	A	-	2	0	FLII	18095497	0.366000	0.25014	0.004000	0.12327	0.014000	0.08584	1.650000	0.37292	0.698000	0.31739	-0.219000	0.12488	GCC		0.657	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		A	18154772	G	A	18154772	3	1	404	1	0	0	0	0	1	0	0	0	5925	1203	42	2	2478	2	FLII	17	18154772	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	10576569	18154772	63040438	47	22222											
RNF213	57674	genome.wustl.edu	37	17	78321283	78321283	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:78321283G>A	ENST00000582970.1	+	29	9291	c.9148G>A	c.(9148-9150)Gtg>Atg	p.V3050M	RNF213_ENST00000336301.6_Missense_Mutation_p.V1123M|RNF213_ENST00000508628.2_Missense_Mutation_p.V3099M	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3050					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAAAACTACGTGGCACTGCA	0.532																																																0			17											71	65	67					17																	78321283		2203	4300	6503	75935878	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9148G>A	17.37:g.78321283G>A	ENSP00000464087:p.Val3050Met		75935878	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354641	0.41700	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22945	1.93	5.71	4.74	0.60224	.	0.236154	0.34460	N	0.003960	T	0.20333	0.0489	L	0.41236	1.265	0.32468	N	0.543231	P	0.45348	0.856	B	0.34418	0.182	T	0.31223	-0.9951	10	0.72032	D	0.01	.	14.6454	0.68756	0.0701:0.0:0.9299:0.0	.	1123	Q63HN8	RN213_HUMAN	M	3050;3099;1123	ENSP00000338218:V1123M	ENSP00000338218:V1123M	V	+	1	0	RNF213	75935878	1.000000	0.71417	0.921000	0.36526	0.954000	0.61252	7.878000	0.87231	1.420000	0.47138	0.563000	0.77884	GTG		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78321283	G	A	78321283	3	1	404	1	0	0	0	0	1	0	0	0	13480	1145	40	1	9577	1	RNF213	17	78321283	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	60166511	78321283	2873927	48	22223											
LAMA1	284217	genome.wustl.edu	37	18	7050767	7050767	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr18:7050767G>C	ENST00000389658.3	-	4	607	c.514C>G	c.(514-516)Ccc>Gcc	p.P172A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	172	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGTAGGTGGGTGGCCCTCGT	0.527																																																0			18											127	104	112					18																	7050767		2203	4300	6503	7040767	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.514C>G	18.37:g.7050767G>C	ENSP00000374309:p.Pro172Ala		7040767		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782168	0.90282	.	.	ENSG00000101680	ENST00000389658	T	0.75050	-0.9	5.96	5.96	0.96718	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76473	-0.2946	10	0.08599	T	0.76	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	172	P25391	LAMA1_HUMAN	A	172	ENSP00000374309:P172A	ENSP00000374309:P172A	P	-	1	0	LAMA1	7040767	1.000000	0.71417	0.970000	0.41538	0.922000	0.55478	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	CCC		0.527	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		C	7050767	G	C	7050767	3	2	404	1	0	0	0	0	1	0	0	0	8605	1261	44	3	8953	3	LAMA1	18	7050767	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09		7050767	71026481	49	22224											
OSBPL1A	114876	genome.wustl.edu	37	18	21743245	21743245	+	Splice_Site	SNP	C	C	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr18:21743245C>G	ENST00000319481.3	-	28	2957	c.2751G>C	c.(2749-2751)agG>agC	p.R917S	OSBPL1A_ENST00000357041.4_Splice_Site_p.R535S|RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Splice_Site_p.R404S	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	917					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GATGGAACCACCTGTTAAAAG	0.398																																																0			18											84	83	84					18																	21743245		2203	4300	6503	19997243	SO:0001630	splice_region_variant	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2751-1G>C	18.37:g.21743245C>G			19997243	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818116	0.71028	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.33654	1.4;1.4;1.4	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.93763	3.455	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.73780	-0.3875	10	0.66056	D	0.02	.	10.2946	0.43616	0.0:0.8499:0.0:0.1501	.	917	Q9BXW6	OSBL1_HUMAN	S	917;404;535	ENSP00000320291:R917S;ENSP00000382372:R404S;ENSP00000349545:R535S	ENSP00000320291:R917S	R	-	3	2	OSBPL1A	19997243	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.848000	0.55903	2.788000	0.95919	0.655000	0.94253	AGG		0.398	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597	Missense_Mutation	G	21743245	C	G	21743245	5	3	404	1	0	0	0	0	0	0	1	0	11277	521	18	3	105	3	OSBPL1A	18	21743245	Splice_Site	SNP	C	TCGA-42-2591-01A-01D-1526-09	14692478	21743245	56334003	50	22225											
CDH19	28513	genome.wustl.edu	37	18	64172451	64172451	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr18:64172451G>T	ENST00000262150.2	-	12	2209	c.1917C>A	c.(1915-1917)ttC>ttA	p.F639L	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CATCATATTGGAATATATTCT	0.383																																																0			18											137	140	139					18																	64172451		2203	4300	6503	62323431	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1917C>A	18.37:g.64172451G>T	ENSP00000262150:p.Phe639Leu		62323431	O15098	Missense_Mutation	SNP	ENST00000262150.2	37	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	g	14.37	2.515753	0.44763	.	.	ENSG00000071991	ENST00000262150	T	0.75589	-0.95	5.18	4.3	0.51218	Cadherin, cytoplasmic domain (1);	0.124915	0.56097	D	0.000039	T	0.58163	0.2103	N	0.12887	0.27	0.80722	D	1	B	0.27192	0.171	B	0.34385	0.181	T	0.53975	-0.8362	10	0.29301	T	0.29	.	10.3884	0.44154	0.16:0.0:0.84:0.0	.	639	Q9H159	CAD19_HUMAN	L	639	ENSP00000262150:F639L	ENSP00000262150:F639L	F	-	3	2	CDH19	62323431	0.978000	0.34361	0.862000	0.33874	0.487000	0.33371	1.722000	0.38042	1.280000	0.44463	0.650000	0.86243	TTC		0.383	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		T	64172451	G	T	64172451	3	4	404	1	0	0	0	0	1	0	0	0	3104	1165	41	3	405	3	CDH19	18	64172451	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	42429206	64172451	13904797	51	22226											
ICAM5	7087	genome.wustl.edu	37	19	10406148	10406148	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr19:10406148G>A	ENST00000221980.4	+	10	2420	c.2357G>A	c.(2356-2358)gGg>gAg	p.G786E		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	786	Ig-like C2-type 9.			G -> R (in Ref. 2; AAC97931). {ECO:0000305}.	phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			gcgcccccgggggcccTCAAC	0.711																																																0			19											5	6	6					19																	10406148		2090	4148	6238	10267148	SO:0001583	missense	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2357G>A	19.37:g.10406148G>A	ENSP00000221980:p.Gly786Glu		10267148	Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131648	0.77662	.	.	ENSG00000105376	ENST00000221980	T	0.10960	2.82	4.72	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000094	T	0.22666	0.0547	L	0.41124	1.26	0.38153	D	0.938802	D	0.89917	1.0	D	0.97110	1.0	T	0.01549	-1.1327	10	0.35671	T	0.21	-36.6516	13.0387	0.58887	0.0:0.0:1.0:0.0	.	786	Q9UMF0	ICAM5_HUMAN	E	786	ENSP00000221980:G786E	ENSP00000221980:G786E	G	+	2	0	ICAM5	10267148	1.000000	0.71417	0.988000	0.46212	0.778000	0.44026	4.578000	0.60929	2.469000	0.83416	0.549000	0.68633	GGG		0.711	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		A	10406148	G	A	10406148	3	1	404	1	0	0	0	0	1	0	0	0	7483	1232	43	2	2395	2	ICAM5	19	10406148	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09		10406148	48722835	52	22227											
ZNF208	7757	genome.wustl.edu	37	19	22154858	22154858	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr19:22154858A>C	ENST00000397126.4	-	4	3126	c.2978T>G	c.(2977-2979)gTa>gGa	p.V993G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	993					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTACCTTATGTTT	0.343																																																0			19											57	62	60					19																	22154858		2087	4237	6324	21946698	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2978T>G	19.37:g.22154858A>C	ENSP00000380315:p.Val993Gly		21946698		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	a	7.719	0.696721	0.15106	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16897	2.31	2.56	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17619	0.0423	.	.	.	0.09310	N	1	P	0.48911	0.917	P	0.48524	0.58	T	0.15838	-1.0423	8	0.62326	D	0.03	.	5.2974	0.15760	0.341:0.5485:0.0:0.1105	.	865	O43345	ZN208_HUMAN	G	993;865	ENSP00000380315:V993G	ENSP00000380315:V993G	V	-	2	0	ZNF208	21946698	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.075000	0.03423	-0.343000	0.08351	-1.224000	0.01588	GTA		0.343	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		C	22154858	A	C	22154858	3	2	404	1	0	0	0	0	1	0	0	0	17766	391	14	5	868	5	ZNF208	19	22154858	Missense_Mutation	SNP	A	TCGA-42-2591-01A-01D-1526-09	11748710	22154858	36974125	53	22228											
DMKN	93099	genome.wustl.edu	37	19	36004015	36004015	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr19:36004015A>C	ENST00000339686.3	-	1	539	c.363T>G	c.(361-363)atT>atG	p.I121M	DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.I121M|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.I121M|DMKN_ENST00000424570.2_Missense_Mutation_p.I121M|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.I121M|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.I121M|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.I121M|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.I121M|DMKN_ENST00000602781.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	121	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCGTGTCGAATGACATCTT	0.612																																																0			19											114	103	107					19																	36004015		2203	4300	6503	40695855	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.363T>G	19.37:g.36004015A>C	ENSP00000342012:p.Ile121Met		40695855	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.406777	0.25378	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.33865	1.98;1.78;1.76;1.39;1.43;1.45;1.45;1.48	4.08	-0.116	0.13555	.	0.441651	0.16776	N	0.200006	T	0.46268	0.1384	L	0.48642	1.525	0.09310	N	1	P;D;D;P;P;P;P	0.60575	0.9;0.988;0.988;0.9;0.835;0.835;0.835	P;D;D;P;P;P;P	0.72338	0.568;0.977;0.977;0.568;0.466;0.466;0.466	T	0.29882	-0.9997	10	0.87932	D	0	-5.9913	7.8386	0.29384	0.5271:0.0:0.4729:0.0	.	121;121;121;121;121;121;121	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	M	121	ENSP00000342012:I121M;ENSP00000405503:I121M;ENSP00000391036:I121M;ENSP00000394908:I121M;ENSP00000415277:I121M;ENSP00000414743:I121M;ENSP00000388404:I121M;ENSP00000409513:I121M	ENSP00000342012:I121M	I	-	3	3	DMKN	40695855	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.554000	0.23407	-0.034000	0.13713	0.402000	0.26972	ATT		0.612	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		C	36004015	A	C	36004015	3	2	404	1	0	0	0	0	1	0	0	0	4582	242	9	5	1448	5	DMKN	19	36004015	Missense_Mutation	SNP	A	TCGA-42-2591-01A-01D-1526-09	13849157	36004015	23124968	54	22229											
CEP250	11190	genome.wustl.edu	37	20	34089716	34089716	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr20:34089716C>T	ENST00000397527.1	+	29	4663	c.3943C>T	c.(3943-3945)Ctg>Ttg	p.L1315L	CEP250_ENST00000342580.4_Silent_p.L1259L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1315	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGAATCTGAGCTGATGGAACT	0.493																																																0			20											81	78	79					20																	34089716		2203	4300	6503	33553130	SO:0001819	synonymous_variant	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3943C>T	20.37:g.34089716C>T			33553130	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																				0.493	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		T	34089716	C	T	34089716	2	4	404	1	0	0	0	0	0	0	0	1	3252	796	28	2		2	CEP250	20	34089716	Silent	SNP	C	TCGA-42-2591-01A-01D-1526-09		34089716	28935804	55	22230											
PHACTR3	116154	genome.wustl.edu	37	20	58330315	58330315	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr20:58330315C>T	ENST00000371015.1	+	4	904	c.437C>T	c.(436-438)aCg>aTg	p.T146M	PHACTR3_ENST00000395639.4_Missense_Mutation_p.T105M|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T105M|PHACTR3_ENST00000361300.4_Missense_Mutation_p.T105M|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T105M|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T105M|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T143M	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	146						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGTCGGAGACGCTGACTTCA	0.572																																																0			20											59	54	55					20																	58330315		2203	4300	6503	57763710	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.437C>T	20.37:g.58330315C>T	ENSP00000360054:p.Thr146Met		57763710	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	4.076	0.011945	0.07912	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.30714	1.92;1.93;1.52;1.93;1.93;1.93;1.52	3.46	0.245	0.15512	.	1.496170	0.03843	N	0.270892	T	0.21267	0.0512	N	0.22421	0.69	0.09310	N	1	P;P;P	0.51791	0.948;0.661;0.832	B;B;B	0.40009	0.316;0.072;0.176	T	0.29852	-0.9998	10	0.31617	T	0.26	0.8975	8.7325	0.34507	0.0:0.7653:0.0:0.2347	.	105;146;143	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	M	143;146;105;105;105;105;105	ENSP00000353002:T143M;ENSP00000360054:T146M;ENSP00000379001:T105M;ENSP00000442483:T105M;ENSP00000347866:T105M;ENSP00000378998:T105M;ENSP00000354555:T105M	ENSP00000347866:T105M	T	+	2	0	PHACTR3	57763710	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	0.346000	0.19997	-0.045000	0.13468	-1.287000	0.01368	ACG		0.572	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		T	58330315	C	T	58330315	3	4	404	1	0	0	0	0	1	0	0	0	11811	536	19	1	451	1	PHACTR3	20	58330315	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	24240599	58330315	4695205	56	22231											
IFNAR2	3455	genome.wustl.edu	37	21	34635590	34635590	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr21:34635590G>A	ENST00000342136.4	+	9	1659	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Missense_Mutation_p.A445T			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	445					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	CGACTTAGAAGCCCCTCTGAT	0.502																																																0			21											256	258	257					21																	34635590		2203	4300	6503	33557460	SO:0001583	missense	3455				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1333G>A	21.37:g.34635590G>A	ENSP00000343957:p.Ala445Thr		33557460	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274667	0.40194	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.28454	1.61;1.61	4.74	0.603	0.17541	.	2.316730	0.02284	N	0.069638	T	0.19765	0.0475	L	0.29908	0.895	0.09310	N	1	P	0.39480	0.675	B	0.31614	0.133	T	0.16867	-1.0388	10	0.62326	D	0.03	.	2.7234	0.05207	0.0923:0.1608:0.416:0.3309	.	445	P48551	INAR2_HUMAN	T	445	ENSP00000371676:A445T;ENSP00000343957:A445T	ENSP00000343957:A445T	A	+	1	0	IFNAR2	33557460	0.001000	0.12720	0.000000	0.03702	0.228000	0.25075	0.826000	0.27407	0.004000	0.14682	0.650000	0.86243	GCC		0.502	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			A	34635590	G	A	34635590	3	1	404	1	0	0	0	0	1	0	0	0	7545	971	34	2	1523	2	IFNAR2	21	34635590	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09		34635590	13494305	57	22232											
RUNX1	861	genome.wustl.edu	37	21	36164573	36164573	+	Silent	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr21:36164573G>A	ENST00000344691.4	-	6	2798	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	RUNX1_ENST00000399240.1_Silent_p.N343N|RUNX1_ENST00000325074.5_Silent_p.N422N|RUNX1_ENST00000437180.1_Silent_p.N434N|RUNX1_ENST00000300305.3_Silent_p.N434N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	407	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGGTGGAGGCGTTGGTGCAGG	0.711			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0			21											10	10	10					21																	36164573		2091	4099	6190	35086443	SO:0001819	synonymous_variant	861			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.1221C>T	21.37:g.36164573G>A			35086443	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	CCDS42922.1																																																																																				0.711	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			A	36164573	G	A	36164573	2	1	404	1	0	0	0	0	0	0	0	1	13749	1136	40	1		1	RUNX1	21	36164573	Silent	SNP	G	TCGA-42-2591-01A-01D-1526-09	1528983	36164573	11965322	58	22233											
C21orf58	54058	genome.wustl.edu	37	21	47722406	47722406	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr21:47722406G>T	ENST00000291691.7	-	7	1942	c.806C>A	c.(805-807)gCc>gAc	p.A269D	C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397680.1_Missense_Mutation_p.A163D|C21orf58_ENST00000397682.3_Missense_Mutation_p.A163D|C21orf58_ENST00000397679.1_Missense_Mutation_p.A163D|C21orf58_ENST00000397683.1_Missense_Mutation_p.A163D	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	269										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		TACCTGCAGGGCTGGGGGCAG	0.572																																																0			21											27	24	25					21																	47722406		2203	4298	6501	46546834	SO:0001583	missense	54058				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.806C>A	21.37:g.47722406G>T	ENSP00000291691:p.Ala269Asp		46546834	B3KPI1	Missense_Mutation	SNP	ENST00000291691.7	37	CCDS13735.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861937	0.51482	.	.	ENSG00000160298	ENST00000397683;ENST00000417060;ENST00000397682;ENST00000291691;ENST00000397679;ENST00000397680	T;T;T;T;T;T	0.48201	0.83;0.83;0.83;0.82;0.83;0.83	3.95	1.08	0.20341	.	0.921434	0.09024	N	0.859816	T	0.47857	0.1468	L	0.50333	1.59	0.09310	N	1	D;D;P	0.53745	0.962;0.962;0.899	P;P;B	0.52481	0.7;0.7;0.39	T	0.31861	-0.9928	10	0.40728	T	0.16	-2.8963	3.7141	0.08431	0.3123:0.1867:0.5011:0.0	.	269;163;269	P58505;Q8N7N9;P58505-2	CU058_HUMAN;.;.	D	163;231;163;269;163;163	ENSP00000380799:A163D;ENSP00000402356:A231D;ENSP00000380798:A163D;ENSP00000291691:A269D;ENSP00000380796:A163D;ENSP00000380797:A163D	ENSP00000291691:A269D	A	-	2	0	C21orf58	46546834	0.003000	0.15002	0.004000	0.12327	0.243000	0.25628	1.010000	0.29898	0.229000	0.21039	0.462000	0.41574	GCC		0.572	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180		T	47722406	G	T	47722406	3	4	404	1	0	0	0	0	1	0	0	0	2129	1203	42	3	170	3	C21orf58	21	47722406	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	11557833	47722406	407489	59	22234											
LZTR1	8216	genome.wustl.edu	37	22	21347964	21347964	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr22:21347964C>A	ENST00000215739.8	+	12	1633	c.1274C>A	c.(1273-1275)cCt>cAt	p.P425H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.P406H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	425					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCCTGTTACCCTAAATGCACG	0.642																																																0			22											57	46	50					22																	21347964		2202	4300	6502	19677964	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1274C>A	22.37:g.21347964C>A	ENSP00000215739:p.Pro425His		19677964	Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861301	0.71949	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.61158	0.56;0.13	4.7	4.7	0.59300	BTB/POZ fold (2);	0.052223	0.85682	D	0.000000	T	0.72581	0.3478	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.68621	0.915;0.959;0.915;0.912	T	0.75926	-0.3145	10	0.87932	D	0	-32.8927	13.0129	0.58741	0.0:1.0:0.0:0.0	.	406;384;425;384	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	384;425;406	ENSP00000215739:P425H;ENSP00000374006:P406H	ENSP00000215739:P425H	P	+	2	0	LZTR1	19677964	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	7.373000	0.79623	2.432000	0.82394	0.563000	0.77884	CCT		0.642	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		A	21347964	C	A	21347964	3	1	404	1	0	0	0	0	1	0	0	0	9137	681	24	3	1320	3	LZTR1	22	21347964	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09		21347964	29956602	60	22235											
TAB3	257397	genome.wustl.edu	37	X	30873557	30873557	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:30873557G>T	ENST00000378933.1	-	3	402	c.225C>A	c.(223-225)aaC>aaA	p.N75K	TAB3_ENST00000378932.2_Missense_Mutation_p.N75K|TAB3_ENST00000378930.3_Missense_Mutation_p.N75K|TAB3_ENST00000288422.2_Missense_Mutation_p.N75K|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	75					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGATACCCAGGTTAATATGTA	0.428																																					Pancreas(164;1598 1985 29022 43301 49529)											0			X											75	60	65					X																	30873557		2202	4300	6502	30783478	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.225C>A	X.37:g.30873557G>T	ENSP00000368215:p.Asn75Lys		30783478	A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558605	0.45590	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.44	2.57	0.30868	.	0.080255	0.85682	D	0.000000	T	0.78000	0.4215	L	0.52573	1.65	0.39983	D	0.974947	D;D	0.60575	0.988;0.979	P;P	0.53861	0.736;0.549	T	0.77011	-0.2746	10	0.87932	D	0	-3.7512	8.8452	0.35166	0.3661:0.0:0.6339:0.0	.	75;75	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	K	75	ENSP00000368215:N75K;ENSP00000368212:N75K;ENSP00000288422:N75K;ENSP00000368214:N75K	ENSP00000288422:N75K	N	-	3	2	TAB3	30783478	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.275000	0.33144	0.157000	0.19338	0.600000	0.82982	AAC		0.428	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		T	30873557	G	T	30873557	3	4	404	1	0	0	0	0	1	0	0	0	15497	1252	44	3	1937	3	TAB3	23	30873557	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09		30873557	124397003	61	22236											
MED14	9282	genome.wustl.edu	37	X	40540156	40540156	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:40540156T>C	ENST00000324817.1	-	20	2582	c.2464A>G	c.(2464-2466)Atc>Gtc	p.I822V	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	822	Interaction with SREBF1.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCATTGGATACTAATCTAA	0.343																																																0			X											62	54	57					X																	40540156		2203	4300	6503	40425100	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2464A>G	X.37:g.40540156T>C	ENSP00000323720:p.Ile822Val		40425100	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171498	0.38315	.	.	ENSG00000180182	ENST00000324817	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	L	0.35793	1.09	0.80722	D	1	P	0.40970	0.734	P	0.50825	0.651	T	0.53795	-0.8388	9	0.19147	T	0.46	.	15.4564	0.75318	0.0:0.0:0.0:1.0	.	822	O60244	MED14_HUMAN	V	822	.	ENSP00000323720:I822V	I	-	1	0	MED14	40425100	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.751000	0.68720	2.034000	0.60081	0.486000	0.48141	ATC		0.343	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		C	40540156	T	C	40540156	3	2	404	1	0	0	0	0	1	0	0	0	9432	1406	49	4	1948	4	MED14	23	40540156	Missense_Mutation	SNP	T	TCGA-42-2591-01A-01D-1526-09	9666599	40540156	114730404	62	22237											
EDA	1896	genome.wustl.edu	37	X	69249373	69249373	+	Silent	SNP	A	A	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:69249373A>T	ENST00000374552.4	+	5	968	c.726A>T	c.(724-726)ggA>ggT	p.G242G	EDA_ENST00000524573.1_Silent_p.G242G|EDA_ENST00000374553.2_Silent_p.G242G	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	242					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ATAAAGCTGGAACTCGAGAAA	0.478											OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											158	125	136					X																	69249373		2203	4300	6503	69166098	SO:0001819	synonymous_variant	1896			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.726A>T	X.37:g.69249373A>T		1113	69166098	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	ENST00000374552.4	37	CCDS14394.1																																																																																				0.478	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		T	69249373	A	T	69249373	2	4	404	1	0	0	0	0	0	0	0	1	4903	233	9	5		5	EDA	23	69249373	Silent	SNP	A	TCGA-42-2591-01A-01D-1526-09	28709217	69249373	86021187	63	22238											
DLG3	1741	genome.wustl.edu	37	X	69671761	69671761	+	Missense_Mutation	SNP	C	C	G	rs374626814		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:69671761C>G	ENST00000374360.3	+	7	1263	c.1030C>G	c.(1030-1032)Ctg>Gtg	p.L344V	RNU4-81P_ENST00000363561.1_RNA|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000194900.4_Missense_Mutation_p.L362V|DLG3_ENST00000374355.3_5'Flank|DLG3-AS1_ENST00000431103.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	344					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TAATTCCAGCCTGGGTTATCT	0.547											OREG0019853	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											84	69	74					X																	69671761		2203	4300	6503	69588486	SO:0001583	missense	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1030C>G	X.37:g.69671761C>G	ENSP00000363480:p.Leu344Val	1116	69588486	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202731	0.38905	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.12984	2.66;2.63	3.93	3.93	0.45458	PDZ-associated domain of NMDA receptors (1);	0.142496	0.28996	U	0.013469	T	0.15739	0.0379	M	0.64997	1.995	0.80722	D	1	B	0.24823	0.112	B	0.17433	0.018	T	0.04065	-1.0980	9	.	.	.	.	14.2916	0.66281	0.0:1.0:0.0:0.0	.	344	Q92796	DLG3_HUMAN	V	362;344	ENSP00000194900:L362V;ENSP00000363480:L344V	.	L	+	1	2	DLG3	69588486	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.305000	0.43664	1.798000	0.52647	0.538000	0.68166	CTG		0.547	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		G	69671761	C	G	69671761	3	3	404	1	0	0	0	0	1	0	0	0	4556	680	24	3	1056	3	DLG3	23	69671761	Missense_Mutation	SNP	C	TCGA-42-2591-01A-01D-1526-09	422388	69671761	85598799	64	22239											
MORF4L2	9643	genome.wustl.edu	37	X	102931234	102931234	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:102931234T>G	ENST00000441076.2	-	4	1026	c.722A>C	c.(721-723)tAt>tCt	p.Y241S	MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000422154.2_Missense_Mutation_p.Y241S|MORF4L2_ENST00000451301.1_Missense_Mutation_p.Y241S|MORF4L2_ENST00000433176.2_Missense_Mutation_p.Y241S|MORF4L2_ENST00000360458.1_Missense_Mutation_p.Y241S|MORF4L2_ENST00000423833.2_Missense_Mutation_p.Y241S	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	241	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						AAGGGGCGTATAGGCCAACAT	0.433																																																0			X											90	75	80					X																	102931234		2203	4300	6503	102817890	SO:0001583	missense	9643			AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"MORF-related gene X"	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.722A>C	X.37:g.102931234T>G	ENSP00000391969:p.Tyr241Ser		102817890	B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128227	0.56721	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833	T;T;T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06;3.06;3.06	4.79	4.79	0.61399	.	0.060084	0.64402	D	0.000002	T	0.16938	0.0407	L	0.42581	1.335	0.80722	D	1	P	0.36660	0.564	P	0.55055	0.767	T	0.10730	-1.0617	10	0.21014	T	0.42	-17.8344	11.5301	0.50604	0.0:0.0:0.0:1.0	.	241	Q15014	MO4L2_HUMAN	S	241;123;241;241;241;223;241;241	ENSP00000353643:Y241S;ENSP00000361703:Y123S;ENSP00000415476:Y241S;ENSP00000394417:Y241S;ENSP00000410532:Y241S;ENSP00000391969:Y241S;ENSP00000416120:Y241S	ENSP00000353643:Y241S	Y	-	2	0	MORF4L2	102817890	1.000000	0.71417	0.975000	0.42487	0.979000	0.70002	4.247000	0.58750	2.088000	0.63022	0.486000	0.48141	TAT		0.433	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		G	102931234	T	G	102931234	3	3	404	1	0	0	0	0	1	0	0	0	9707	1406	49	5	148	5	MORF4L2	23	102931234	Missense_Mutation	SNP	T	TCGA-42-2591-01A-01D-1526-09	33259473	102931234	52339326	65	22240											
XIAP	331	genome.wustl.edu	37	X	123040873	123040873	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:123040873G>C	ENST00000371199.3	+	7	1635	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.E446Q|XIAP_ENST00000355640.3_Missense_Mutation_p.E446Q	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	446					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GCGCCTGCAAGAGGAGAAGCT	0.358									X-linked Lymphoproliferative syndrome																																							0			X											81	77	78					X																	123040873		2203	4300	6503	122868554	SO:0001583	missense	331	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1336G>C	X.37:g.123040873G>C	ENSP00000360242:p.Glu446Gln		122868554	D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	g	17.22	3.334287	0.60853	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.04119	3.7;3.7;3.7	5.27	5.27	0.74061	Baculoviral inhibition of apoptosis protein repeat (1);	0.000000	0.64402	D	0.000002	T	0.26521	0.0648	M	0.87456	2.885	0.39301	D	0.964901	D	0.76494	0.999	D	0.74674	0.984	T	0.12785	-1.0534	9	.	.	.	-9.7786	17.6165	0.88069	0.0:0.0:1.0:0.0	.	446	P98170	XIAP_HUMAN	Q	446	ENSP00000395230:E446Q;ENSP00000360242:E446Q;ENSP00000347858:E446Q	.	E	+	1	0	XIAP	122868554	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.572000	0.60886	2.190000	0.69967	0.594000	0.82650	GAG		0.358	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		C	123040873	G	C	123040873	3	2	404	1	0	0	0	0	1	0	0	0	17428	943	33	3	1358	3	XIAP	23	123040873	Missense_Mutation	SNP	G	TCGA-42-2591-01A-01D-1526-09	20109639	123040873	32229687	66	22241											
ODZ1	10178	genome.wustl.edu	37	X	123518243	123518243	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:123518243T>A	ENST00000371130.3	-	29	6580	c.6517A>T	c.(6517-6519)Agt>Tgt	p.S2173C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S2180C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2173					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGATCGTAACTATAACGCCAC	0.448																																																0			X											139	128	132					X																	123518243		2203	4300	6503	123345924	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6517A>T	X.37:g.123518243T>A	ENSP00000360171:p.Ser2173Cys		123345924	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295767	0.60086	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86769	-2.17;-2.13	5.52	4.37	0.52481	.	0.041195	0.85682	D	0.000000	D	0.92825	0.7718	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73380	0.97;0.98;0.969	D	0.93222	0.6609	10	0.72032	D	0.01	.	9.9967	0.41905	0.0:0.0798:0.0:0.9202	.	2179;2180;2173	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	2173;2180	ENSP00000360171:S2173C;ENSP00000403954:S2180C	ENSP00000360171:S2173C	S	-	1	0	ODZ1	123345924	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	6.288000	0.72679	1.843000	0.53566	0.441000	0.28932	AGT		0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123518243	T	A	123518243	3	1	404	1	0	0	0	0	1	0	0	0	10834	1522	53	5	1672	5	ODZ1	23	123518243	Missense_Mutation	SNP	T	TCGA-42-2591-01A-01D-1526-09	477370	123518243	31752317	67	22242											
GABRQ	55879	genome.wustl.edu	37	X	151808926	151808926	+	Splice_Site	SNP	A	A	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:151808926A>G	ENST00000370306.2	+	2	257	c.237A>G	c.(235-237)ggA>ggG	p.G79G		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	79					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGAATTTTGGAGGTAAGGCAT	0.483																																																0			X											136	114	122					X																	151808926		2203	4300	6503	151559582	SO:0001630	splice_region_variant	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.238+1A>G	X.37:g.151808926A>G			151559582	A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	CCDS14707.1																																																																																				0.483	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	Silent	G	151808926	A	G	151808926	5	3	404	1	0	0	0	0	0	0	1	0	6175	318	11	4	243	4	GABRQ	23	151808926	Splice_Site	SNP	A	TCGA-42-2591-01A-01D-1526-09	28290683	151808926	3461634	68	22243											
LCK	3932	hgsc.bcm.edu	37	1	32739985	32739985	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr1:32739985G>T	ENST00000336890.5	+	2	193	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	LCK_ENST00000373564.3_Missense_Mutation_p.V19L|LCK_ENST00000333070.4_Missense_Mutation_p.V19L	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	19	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.V19L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	AAACATCGATGTGTGTGAGAA	0.572			T	TRB@	T-ALL																																		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	1	Substitution - Missense(1)	ovary(1)	1											117	101	106					1																	32739985		2203	4300	6503	32512572	SO:0001583	missense	3932			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.55G>T	1.37:g.32739985G>T	ENSP00000337825:p.Val19Leu		32512572	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	14.37	2.514757	0.44763	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.03	4.05	0.47172	.	0.000000	0.53938	D	0.000052	T	0.26810	0.0656	L	0.31664	0.95	0.29951	N	0.820262	B;B;B;B	0.10296	0.003;0.003;0.001;0.002	B;B;B;B	0.09377	0.004;0.002;0.004;0.001	T	0.08289	-1.0729	10	0.19590	T	0.45	.	8.5288	0.33321	0.0867:0.1581:0.7552:0.0	.	63;19;19;19	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	L	19;19;19;19;19;63;63;19;63;19	ENSP00000337825:V19L;ENSP00000431517:V19L;ENSP00000435605:V19L;ENSP00000434525:V19L;ENSP00000362663:V19L;ENSP00000436554:V63L;ENSP00000362658:V63L;ENSP00000328213:V19L;ENSP00000362665:V19L	ENSP00000328213:V19L	V	+	1	0	LCK	32512572	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	4.183000	0.58317	2.519000	0.84933	0.487000	0.48397	GTG		0.572	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		T	32739985	G	T	32739985	3	4	405	1	0	0	0	0	1	0	0	0	8676	1377	48	3	57	3	LCK	1	32739985	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10		32739985	216510636	1	22244											
LRRC7	57554	hgsc.bcm.edu	37	1	70541780	70541780	+	Silent	SNP	G	G	A	rs200239282		TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr1:70541780G>A	ENST00000035383.5	+	22	4167	c.4137G>A	c.(4135-4137)acG>acA	p.T1379T	LRRC7_ENST00000310961.5_Silent_p.T1337T|LRRC7_ENST00000415775.2_Silent_p.T663T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1379						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.T1379T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACATCCAGACGTTGATGGGGT	0.478													G|||	1	0.000199681	0	0.0014	5008	,	,		17631	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1											51	49	50					1																	70541780		2203	4300	6503	70314368	SO:0001819	synonymous_variant	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4137G>A	1.37:g.70541780G>A			70314368	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																				0.478	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		A	70541780	G	A	70541780	2	1	405	1	0	0	0	0	0	0	0	1	9020	1132	40	1		1	LRRC7	1	70541780	Silent	SNP	G	TCGA-57-1582-01A-01W-0615-10	37801795	70541780	178708841	2	22245											
CLCA1	1179	hgsc.bcm.edu	37	1	86956984	86956984	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr1:86956984A>G	ENST00000234701.3	+	10	1745	c.1394A>G	c.(1393-1395)aAc>aGc	p.N465S	CLCA1_ENST00000394711.1_Missense_Mutation_p.N465S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	465	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.N465S(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CAAGTTCAGAACAATGGCCTC	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											132	130	130					1																	86956984		2203	4300	6503	86729572	SO:0001583	missense	1179				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1394A>G	1.37:g.86956984A>G	ENSP00000234701:p.Asn465Ser		86729572	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296616	0.23650	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.66460	-0.21;-0.21	5.92	4.77	0.60923	von Willebrand factor, type A (2);	0.241739	0.41294	D	0.000919	T	0.41236	0.1150	L	0.46741	1.465	0.30930	N	0.726978	P;P	0.47962	0.903;0.903	P;P	0.50617	0.646;0.646	T	0.45527	-0.9255	10	0.02654	T	1	-18.9142	7.037	0.24998	0.6007:0.2638:0.0:0.1354	.	465;228	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	S	465;465;178	ENSP00000234701:N465S;ENSP00000378200:N465S	ENSP00000234701:N465S	N	+	2	0	CLCA1	86729572	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.723000	0.54955	1.026000	0.39733	0.533000	0.62120	AAC		0.383	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		G	86956984	A	G	86956984	3	3	405	1	0	0	0	0	1	0	0	0	3457	43	2	4	1428	4	CLCA1	1	86956984	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10	16415204	86956984	162293637	3	22246											
SYT6	148281	hgsc.bcm.edu	37	1	114680339	114680339	+	Silent	SNP	G	G	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr1:114680339G>A	ENST00000610222.1	-	3	995	c.849C>T	c.(847-849)acC>acT	p.T283T	SYT6_ENST00000393296.1_Silent_p.T283T|SYT6_ENST00000369547.1_Silent_p.T198T|SYT6_ENST00000607941.1_Silent_p.T198T|SYT6_ENST00000609117.1_Silent_p.T198T			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	283	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.T198T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGCACCCGGGTCTGCAGCT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	1											130	122	125					1																	114680339		2203	4300	6503	114481862	SO:0001819	synonymous_variant	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.849C>T	1.37:g.114680339G>A			114481862	B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37																																																																																					0.552	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		A	114680339	G	A	114680339	2	1	405	1	0	0	0	0	0	0	0	1	15478	1219	43	2		2	SYT6	1	114680339	Silent	SNP	G	TCGA-57-1582-01A-01W-0615-10	27723355	114680339	134570282	4	22247											
ECM1	1893	hgsc.bcm.edu	37	1	150483640	150483640	+	Missense_Mutation	SNP	G	G	C	rs61343114		TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr1:150483640G>C	ENST00000369047.4	+	6	799	c.674G>C	c.(673-675)aGc>aCc	p.S225T	ECM1_ENST00000369049.4_Missense_Mutation_p.S252T|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.S225T	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	225	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.S225T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACTGCCGCAGCCACACAAAC	0.552																																					Melanoma(156;1696 2560 11093 19685)											1	Substitution - Missense(1)	ovary(1)	1											87	94	92					1																	150483640		2203	4300	6503	148750264	SO:0001583	missense	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.674G>C	1.37:g.150483640G>C	ENSP00000358043:p.Ser225Thr		148750264	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129403	0.37630	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.77229	-1.08;-1.08;-1.08	4.74	-0.902	0.10537	.	0.996836	0.08139	N	0.991898	T	0.64800	0.2631	L	0.54323	1.7	0.09310	N	1	D;P;P;D;P;P	0.53619	0.961;0.952;0.835;0.96;0.728;0.918	P;P;P;P;B;P	0.50970	0.655;0.523;0.574;0.622;0.297;0.525	T	0.56607	-0.7951	10	0.44086	T	0.13	-1.1107	7.6928	0.28577	0.5765:0.0:0.4235:0.0	.	147;154;252;225;225;225	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	T	252;225;225	ENSP00000358045:S252T;ENSP00000358043:S225T;ENSP00000271630:S225T	ENSP00000271630:S225T	S	+	2	0	ECM1	148750264	0.000000	0.05858	0.061000	0.19648	0.808000	0.45660	-0.412000	0.07132	-0.033000	0.13736	0.655000	0.94253	AGC		0.552	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		C	150483640	G	C	150483640	3	2	405	1	0	0	0	0	1	0	0	0	4897	971	34	3	696	3	ECM1	1	150483640	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	35803301	150483640	98766981	5	22248											
NR1I3	9970	hgsc.bcm.edu	37	1	161202662	161202662	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr1:161202662G>T	ENST00000367982.4	-	5	638	c.483C>A	c.(481-483)ttC>ttA	p.F161L	NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.F161L|NR1I3_ENST00000508740.1_Missense_Mutation_p.F132L|NR1I3_ENST00000412844.2_Missense_Mutation_p.F132L|NR1I3_ENST00000515452.1_Missense_Mutation_p.F161L|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000515621.1_Missense_Mutation_p.F86L|NR1I3_ENST00000511676.1_Missense_Mutation_p.F132L|NR1I3_ENST00000506209.1_Missense_Mutation_p.F132L|NR1I3_ENST00000504010.1_Missense_Mutation_p.F132L|NR1I3_ENST00000367984.4_Missense_Mutation_p.F161L|NR1I3_ENST00000367983.4_Missense_Mutation_p.F161L|NR1I3_ENST00000512372.1_Missense_Mutation_p.F132L|NR1I3_ENST00000367981.3_Missense_Mutation_p.F132L|NR1I3_ENST00000367980.2_Missense_Mutation_p.F161L|NR1I3_ENST00000505005.1_Missense_Mutation_p.F161L|NR1I3_ENST00000442691.2_Missense_Mutation_p.F161L|NR1I3_ENST00000367985.3_Missense_Mutation_p.F161L|NR1I3_ENST00000428574.2_Missense_Mutation_p.F161L|NR1I3_ENST00000437437.2_Missense_Mutation_p.F132L			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	161					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F161L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGATGTCTGCGAAGTGTGTGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											142	144	143					1																	161202662		2203	4300	6503	159469286	SO:0001583	missense	9970			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.483C>A	1.37:g.161202662G>T	ENSP00000356961:p.Phe161Leu		159469286	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	G	0.913	-0.718351	0.03182	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.4	-10.8	0.00216	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.439044	0.26072	N	0.026510	T	0.80665	0.4666	N	0.17838	0.53	0.41925	D	0.990532	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28324	0.018;0.011;0.023;0.0;0.02;0.001;0.207;0.002;0.023;0.038;0.003;0.006;0.012;0.003;0.066;0.042;0.076;0.023	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36244	0.063;0.028;0.021;0.004;0.022;0.009;0.22;0.019;0.021;0.149;0.019;0.015;0.019;0.029;0.09;0.066;0.094;0.021	T	0.65504	-0.6152	9	0.33141	T	0.24	.	11.2903	0.49245	0.1289:0.174:0.6113:0.0857	.	161;132;132;161;161;161;161;161;161;161;86;132;132;132;132;132;132;161	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	L	132;161;161;132;161;132;161;161;132;161;132;132;132;86;161;161;161;132;161	ENSP00000425417:F132L;ENSP00000356962:F161L;ENSP00000356959:F161L;ENSP00000407446:F132L;ENSP00000406493:F161L;ENSP00000399361:F132L;ENSP00000412672:F161L;ENSP00000424934:F161L;ENSP00000423666:F132L;ENSP00000356961:F161L;ENSP00000424345:F132L;ENSP00000427175:F132L;ENSP00000356960:F132L;ENSP00000421588:F86L;ENSP00000356963:F161L;ENSP00000356965:F161L;ENSP00000356958:F161L;ENSP00000423089:F132L;ENSP00000427034:F161L	ENSP00000356958:F161L	F	-	3	2	NR1I3	159469286	0.000000	0.05858	0.067000	0.19924	0.655000	0.38815	-3.170000	0.00573	-2.193000	0.00754	-0.367000	0.07326	TTC		0.527	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			T	161202662	G	T	161202662	3	4	405	1	0	0	0	0	1	0	0	0	10621	1049	37	3	705	3	NR1I3	1	161202662	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	10719022	161202662	88047959	6	22249											
FAM171B	165215	hgsc.bcm.edu	37	2	187627323	187627323	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr2:187627323G>A	ENST00000304698.5	+	8	2457	c.2254G>A	c.(2254-2256)Gtc>Atc	p.V752I		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	752						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.V752I(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGGAACCACCGTCTGTTCCCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											84	88	86					2																	187627323		2203	4300	6503	187335568	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2254G>A	2.37:g.187627323G>A	ENSP00000304108:p.Val752Ile		187335568	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607188	0.46527	.	.	ENSG00000144369	ENST00000304698	T	0.33216	1.42	6.02	4.22	0.49857	.	0.264930	0.37530	N	0.002059	T	0.25568	0.0622	L	0.52573	1.65	0.37370	D	0.911583	P;P	0.44478	0.836;0.836	B;B	0.36885	0.235;0.235	T	0.22556	-1.0213	10	0.36615	T	0.2	-11.6348	12.0741	0.53634	0.1372:0.0:0.8628:0.0	.	752;753	Q6P995;A8K122	F171B_HUMAN;.	I	752	ENSP00000304108:V752I	ENSP00000304108:V752I	V	+	1	0	FAM171B	187335568	1.000000	0.71417	0.738000	0.30950	0.975000	0.68041	4.724000	0.61972	1.541000	0.49316	0.650000	0.86243	GTC		0.498	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187627323	G	A	187627323	3	1	405	1	0	0	0	0	1	0	0	0	5491	1145	40	1	2284	1	FAM171B	2	187627323	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10		187627323	55572050	7	22250											
HECW2	57520	hgsc.bcm.edu	37	2	197085579	197085579	+	Silent	SNP	C	C	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr2:197085579C>T	ENST00000260983.3	-	25	4415	c.4233G>A	c.(4231-4233)aaG>aaA	p.K1411K	HECW2_ENST00000409111.1_Silent_p.K1055K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1411	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K1411K(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAATCCTCCACTTCACCATCC	0.448																																																1	Substitution - coding silent(1)	ovary(1)	2											330	275	293					2																	197085579		2203	4300	6503	196793824	SO:0001819	synonymous_variant	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4233G>A	2.37:g.197085579C>T			196793824	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.448	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197085579	C	T	197085579	2	4	405	1	0	0	0	0	0	0	0	1	7043	564	20	2		2	HECW2	2	197085579	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10	9458256	197085579	46113794	8	22251											
HYAL3	8372	hgsc.bcm.edu	37	3	50332884	50332884	+	Silent	SNP	C	C	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr3:50332884C>G	ENST00000336307.1	-	2	422	c.150G>C	c.(148-150)ctG>ctC	p.L50L	HYAL3_ENST00000450982.1_Silent_p.L50L|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000429673.2_5'Flank|IFRD2_ENST00000436390.1_5'Flank|HYAL3_ENST00000359051.3_Silent_p.L50L|IFRD2_ENST00000417626.2_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	50					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.L50L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATTGAGTGGCAGGTGCACAC	0.557																																																1	Substitution - coding silent(1)	ovary(1)	3											125	114	117					3																	50332884		2203	4300	6503	50307888	SO:0001819	synonymous_variant	8372			AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.150G>C	3.37:g.50332884C>G			50307888	O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Silent	SNP	ENST00000336307.1	37	CCDS2815.1																																																																																				0.557	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		G	50332884	C	G	50332884	2	3	405	1	0	0	0	0	0	0	0	1	7465	697	25	3		3	HYAL3	3	50332884	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10		50332884	147689546	9	22252											
GHSR	2693	hgsc.bcm.edu	37	3	172165575	172165575	+	Missense_Mutation	SNP	A	A	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr3:172165575A>T	ENST00000241256.2	-	1	671	c.629T>A	c.(628-630)cTc>cAc	p.L210H	GHSR_ENST00000427970.1_Missense_Mutation_p.L210H	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	210					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.L210H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CATGACCGTGAGCAGTCCAGA	0.612																																					Esophageal Squamous(93;641 1401 20883 29581 34638)											1	Substitution - Missense(1)	ovary(1)	3											60	47	51					3																	172165575		2203	4300	6503	173648269	SO:0001583	missense	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.629T>A	3.37:g.172165575A>T	ENSP00000241256:p.Leu210His		173648269	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342873	0.82022	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.38560	1.13;1.13	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.117593	0.56097	D	0.000021	T	0.71685	0.3369	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.78130	-0.2324	10	0.54805	T	0.06	-32.7984	15.6293	0.76888	1.0:0.0:0.0:0.0	.	210;210	Q92847-2;Q92847	.;GHSR_HUMAN	H	210	ENSP00000241256:L210H;ENSP00000395344:L210H	ENSP00000241256:L210H	L	-	2	0	GHSR	173648269	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.101000	0.63845	0.374000	0.22700	CTC		0.612	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		T	172165575	A	T	172165575	3	4	405	1	0	0	0	0	1	0	0	0	6375	304	11	5	553	5	GHSR	3	172165575	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10	121832691	172165575	25856855	10	22253											
MFN1	55669	hgsc.bcm.edu	37	3	179082173	179082173	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr3:179082173G>A	ENST00000471841.1	+	6	751	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	MFN1_ENST00000263969.5_Missense_Mutation_p.E209K|MFN1_ENST00000280653.7_Missense_Mutation_p.E209K	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	209	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E209K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CGCAAACTCTGAATCAACACT	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											127	119	122					3																	179082173		2203	4300	6503	180564867	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.625G>A	3.37:g.179082173G>A	ENSP00000420617:p.Glu209Lys		180564867	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658743	0.88154	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-3.69;-3.69	5.24	5.24	0.73138	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.83953	2.67	0.80722	D	1	D;D;P	0.71674	0.998;0.96;0.918	D;P;P	0.78314	0.991;0.848;0.761	D	0.98476	1.0603	10	0.54805	T	0.06	-18.7677	19.1856	0.93642	0.0:0.0:1.0:0.0	.	209;237;209	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	K	209;209;209;209;62;72	ENSP00000420617:E209K;ENSP00000280653:E209K;ENSP00000263969:E209K;ENSP00000420148:E62K;ENSP00000419926:E72K	ENSP00000263969:E209K	E	+	1	0	MFN1	180564867	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	9.414000	0.97362	2.611000	0.88343	0.650000	0.86243	GAA		0.373	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		A	179082173	G	A	179082173	3	1	405	1	0	0	0	0	1	0	0	0	9523	1291	45	2	643	2	MFN1	3	179082173	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	6916598	179082173	18940257	11	22254											
SLC2A9	56606	hgsc.bcm.edu	37	4	9922141	9922141	+	Silent	SNP	C	C	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr4:9922141C>G	ENST00000264784.3	-	7	923	c.870G>C	c.(868-870)ctG>ctC	p.L290L	SLC2A9_ENST00000309065.3_Silent_p.L261L|SLC2A9_ENST00000506583.1_Silent_p.L261L|RP13-560N11.1_ENST00000504249.1_RNA	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	290					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.L261L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GGCTCTCAGCCAGGACCTCCT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	4											59	53	55					4																	9922141		2203	4300	6503	9531239	SO:0001819	synonymous_variant	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.870G>C	4.37:g.9922141C>G			9531239	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	CCDS3407.1																																																																																				0.577	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			G	9922141	C	G	9922141	2	3	405	1	0	0	0	0	0	0	0	1	14555	581	21	3		3	SLC2A9	4	9922141	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10		9922141	181232135	12	22255											
GABRB1	2560	hgsc.bcm.edu	37	4	47405434	47405434	+	Missense_Mutation	SNP	A	A	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr4:47405434A>T	ENST00000295454.3	+	6	936	c.644A>T	c.(643-645)gAc>gTc	p.D215V	GABRB1_ENST00000538619.1_Missense_Mutation_p.D145V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	215					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.D215V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAATTGTTGACTACAAGATG	0.428																																																1	Substitution - Missense(1)	ovary(1)	4											129	122	124					4																	47405434		2203	4300	6503	47100191	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.644A>T	4.37:g.47405434A>T	ENSP00000295454:p.Asp215Val		47100191	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.533641	0.85812	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.79653	-1.29;-1.29	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel ligand-binding (3);	0.136487	0.46145	D	0.000302	D	0.85660	0.5748	L	0.54965	1.715	0.80722	D	1	P;D	0.62365	0.899;0.991	P;P	0.59825	0.586;0.864	D	0.87092	0.2173	10	0.72032	D	0.01	-24.2247	15.6414	0.77006	1.0:0.0:0.0:0.0	.	145;215	F5GXV5;P18505	.;GBRB1_HUMAN	V	215;145	ENSP00000295454:D215V;ENSP00000440330:D145V	ENSP00000295454:D215V	D	+	2	0	GABRB1	47100191	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.139000	0.94554	2.279000	0.76181	0.533000	0.62120	GAC		0.428	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			T	47405434	A	T	47405434	3	4	405	1	0	0	0	0	1	0	0	0	6166	275	10	5	666	5	GABRB1	4	47405434	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10	37483293	47405434	143748842	13	22256											
DCLK2	166614	hgsc.bcm.edu	37	4	151153493	151153493	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr4:151153493A>G	ENST00000296550.7	+	9	2058	c.1304A>G	c.(1303-1305)cAc>cGc	p.H435R	DCLK2_ENST00000302176.8_Missense_Mutation_p.H452R|DCLK2_ENST00000506325.1_Missense_Mutation_p.H434R	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H435R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGACAGGAACACCTGATTGAG	0.473																																					GBM(195;186 2215 13375 16801 37459)											1	Substitution - Missense(1)	ovary(1)	4											186	174	178					4																	151153493		2203	4300	6503	151372943	SO:0001583	missense	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1304A>G	4.37:g.151153493A>G	ENSP00000296550:p.His435Arg		151372943	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724697	0.68959	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.63580	-0.05;-0.05;-0.05	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045343	0.85682	D	0.000000	T	0.56031	0.1958	N	0.01235	-0.94	0.80722	D	1	P;D;B	0.67145	0.766;0.996;0.261	P;D;B	0.77557	0.593;0.99;0.324	T	0.74012	-0.3801	10	0.59425	D	0.04	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	452;434;435	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	R	435;434;452	ENSP00000296550:H435R;ENSP00000427235:H434R;ENSP00000303887:H452R	ENSP00000296550:H435R	H	+	2	0	DCLK2	151372943	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.281000	0.95811	2.311000	0.77944	0.533000	0.62120	CAC		0.473	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		G	151153493	A	G	151153493	3	3	405	1	0	0	0	0	1	0	0	0	4292	159	6	4	1338	4	DCLK2	4	151153493	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10	103748059	151153493	40000783	14	22257											
APC	324	hgsc.bcm.edu	37	5	112154954	112154954	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr5:112154954C>G	ENST00000457016.1	+	10	1605	c.1225C>G	c.(1225-1227)Ctt>Gtt	p.L409V	APC_ENST00000257430.4_Missense_Mutation_p.L409V|APC_ENST00000508376.2_Missense_Mutation_p.L409V			P25054	APC_HUMAN	adenomatous polyposis coli	409	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.L409V(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTCCTTCATCTTTTGGAACA	0.507		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Substitution - Missense(1)	ovary(1)	5	GRCh37	CD020833	APC	D							52	51	51					5																	112154954		2202	4300	6502	112182853	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1225C>G	5.37:g.112154954C>G	ENSP00000413133:p.Leu409Val		112182853	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887408	0.33348	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.94	5.94	0.96194	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	N	0.12569	0.235	0.80722	D	1	B;B	0.27882	0.106;0.192	B;B	0.31442	0.13;0.13	T	0.40720	-0.9548	10	0.25751	T	0.34	-14.1993	20.4191	0.99033	0.0:1.0:0.0:0.0	.	411;409	Q4LE70;P25054	.;APC_HUMAN	V	409;391;409;409;409	ENSP00000413133:L409V;ENSP00000423224:L391V;ENSP00000257430:L409V;ENSP00000427089:L409V;ENSP00000423828:L409V	ENSP00000257430:L409V	L	+	1	0	APC	112182853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.898000	0.63238	2.832000	0.97577	0.650000	0.86243	CTT		0.507	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112154954	C	G	112154954	3	3	405	1	0	0	0	0	1	0	0	0	763	913	32	3	1259	3	APC	5	112154954	Missense_Mutation	SNP	C	TCGA-57-1582-01A-01W-0615-10		112154954	68760306	15	22258											
SNCAIP	9627	hgsc.bcm.edu	37	5	121786273	121786273	+	Silent	SNP	A	A	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr5:121786273A>G	ENST00000261368.8	+	10	1993	c.1731A>G	c.(1729-1731)ccA>ccG	p.P577P	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.P179P|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.P211P|SNCAIP_ENST00000379533.2_Silent_p.P624P|SNCAIP_ENST00000542191.1_Silent_p.P135P|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Silent_p.P517P|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.P624P	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	577					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.P577P(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGAAATCTCCAGATGCAGATG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	5											112	126	122					5																	121786273		2203	4299	6502	121814172	SO:0001819	synonymous_variant	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1731A>G	5.37:g.121786273A>G			121814172	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	CCDS4131.1																																																																																				0.488	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			G	121786273	A	G	121786273	2	3	405	1	0	0	0	0	0	0	0	1	14844	175	7	4		4	SNCAIP	5	121786273	Silent	SNP	A	TCGA-57-1582-01A-01W-0615-10	9631319	121786273	59128987	16	22259											
FBXO38	81545	hgsc.bcm.edu	37	5	147807211	147807211	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr5:147807211A>G	ENST00000340253.5	+	15	2522	c.2354A>G	c.(2353-2355)cAa>cGa	p.Q785R	CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000394370.3_Missense_Mutation_p.Q785R			Q6PIJ6	FBX38_HUMAN	F-box protein 38	785					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q785R(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAATCCCAAAGGAGAACT	0.577																																																1	Substitution - Missense(1)	ovary(1)	5											55	51	52					5																	147807211		2203	4300	6503	147787404	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2354A>G	5.37:g.147807211A>G	ENSP00000342023:p.Gln785Arg		147787404	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	A	8.930	0.963326	0.18583	.	.	ENSG00000145868	ENST00000340253;ENST00000394370	T;T	0.32515	1.45;1.5	6.04	4.82	0.62117	.	0.182769	0.48767	D	0.000180	T	0.21801	0.0525	L	0.27053	0.805	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.08055	0.002;0.003	T	0.03717	-1.1010	10	0.34782	T	0.22	-15.806	12.0443	0.53471	0.8561:0.1439:0.0:0.0	.	785;785	Q6PIJ6-2;Q6PIJ6	.;FBX38_HUMAN	R	785	ENSP00000342023:Q785R;ENSP00000377895:Q785R	ENSP00000342023:Q785R	Q	+	2	0	FBXO38	147787404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.301000	0.59086	2.317000	0.78254	0.460000	0.39030	CAA		0.577	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		G	147807211	A	G	147807211	3	3	405	1	0	0	0	0	1	0	0	0	5746	130	5	4	2408	4	FBXO38	5	147807211	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10	26020938	147807211	33108049	17	22260											
GABRA6	2559	hgsc.bcm.edu	37	5	161119103	161119103	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr5:161119103C>T	ENST00000274545.5	+	8	1416	c.983C>T	c.(982-984)aCc>aTc	p.T328I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.T318I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	328					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.T328I(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)	AACTACTTTACCAATCTTCAG	0.458										TCGA Ovarian(5;0.080)																																						1	Substitution - Missense(1)	ovary(1)	5											161	137	145					5																	161119103		2203	4300	6503	161051681	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.983C>T	5.37:g.161119103C>T	ENSP00000274545:p.Thr328Ile		161051681	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527133	0.85706	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85556	-2.0;-2.0	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.050281	0.85682	D	0.000000	D	0.92179	0.7520	M	0.78456	2.415	0.58432	D	0.999999	D	0.60575	0.988	D	0.66979	0.948	D	0.92710	0.6182	10	0.59425	D	0.04	.	18.7138	0.91668	0.0:1.0:0.0:0.0	.	328	Q16445	GBRA6_HUMAN	I	328;318	ENSP00000274545:T328I;ENSP00000430527:T318I	ENSP00000274545:T328I	T	+	2	0	GABRA6	161051681	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.726000	0.84824	2.399000	0.81585	0.557000	0.71058	ACC		0.458	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			T	161119103	C	T	161119103	3	4	405	1	0	0	0	0	1	0	0	0	6165	507	18	2	1013	2	GABRA6	5	161119103	Missense_Mutation	SNP	C	TCGA-57-1582-01A-01W-0615-10	13311892	161119103	19796157	18	22261											
TTK	7272	hgsc.bcm.edu	37	6	80747707	80747707	+	Silent	SNP	A	A	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr6:80747707A>C	ENST00000369798.2	+	18	2184	c.2073A>C	c.(2071-2073)ccA>ccC	p.P691P	TTK_ENST00000230510.3_Silent_p.P690P|TTK_ENST00000509894.1_Silent_p.P690P	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	691	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.P675P(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATTATATGCCACCAGAAGCAA	0.313																																																1	Substitution - coding silent(1)	ovary(1)	6											57	55	56					6																	80747707		2203	4298	6501	80804426	SO:0001819	synonymous_variant	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2073A>C	6.37:g.80747707A>C			80804426	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Silent	SNP	ENST00000369798.2	37	CCDS4993.1																																																																																				0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			C	80747707	A	C	80747707	2	2	405	1	0	0	0	0	0	0	0	1	16720	146	6	5		5	TTK	6	80747707	Silent	SNP	A	TCGA-57-1582-01A-01W-0615-10		80747707	90367360	19	22262											
CLVS2	134829	hgsc.bcm.edu	37	6	123384859	123384859	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr6:123384859G>C	ENST00000275162.5	+	6	2272	c.937G>C	c.(937-939)Gat>Cat	p.D313H	CLVS2_ENST00000368438.1_Missense_Mutation_p.D167H	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	313					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.D313H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAAACGCATGGATAAAAATGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											156	142	147					6																	123384859		2203	4300	6503	123426558	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.937G>C	6.37:g.123384859G>C	ENSP00000275162:p.Asp313His		123426558	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826261	0.71143	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;T	0.81659	-1.52;-0.84	5.52	5.52	0.82312	.	0.143355	0.64402	D	0.000008	T	0.63212	0.2492	N	0.14661	0.345	0.58432	D	0.999999	P	0.37955	0.612	B	0.37833	0.259	T	0.71866	-0.4463	10	0.72032	D	0.01	-4.9707	19.7987	0.96497	0.0:0.0:1.0:0.0	.	313	Q5SYC1	CLVS2_HUMAN	H	313;167	ENSP00000275162:D313H;ENSP00000357423:D167H	ENSP00000275162:D313H	D	+	1	0	CLVS2	123426558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.775000	0.91772	2.767000	0.95098	0.655000	0.94253	GAT		0.383	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		C	123384859	G	C	123384859	3	2	405	1	0	0	0	0	1	0	0	0	3572	1174	41	3	955	3	CLVS2	6	123384859	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	42637152	123384859	47730208	20	22263											
EGFR	1956	hgsc.bcm.edu	37	7	55273280	55273280	+	Silent	SNP	G	G	A	rs202156403		TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr7:55273280G>A	ENST00000275493.2	+	28	3780	c.3603G>A	c.(3601-3603)gcG>gcA	p.A1201A	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.A1148A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1201					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A1201A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TAAGGGTCGCGCCACAAAGCA	0.498		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	1	Substitution - coding silent(1)	ovary(1)	7											62	60	61					7																	55273280		2203	4300	6503	55240774	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3603G>A	7.37:g.55273280G>A			55240774	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																				0.498	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55273280	G	A	55273280	2	1	405	1	0	0	0	0	0	0	0	1	4967	1074	38	1		1	EGFR	7	55273280	Silent	SNP	G	TCGA-57-1582-01A-01W-0615-10		55273280	103865383	21	22264											
ZNF804B	219578	hgsc.bcm.edu	37	7	88963746	88963746	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr7:88963746C>A	ENST00000333190.4	+	4	2059	c.1450C>A	c.(1450-1452)Ctt>Att	p.L484I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	484							metal ion binding (GO:0046872)	p.L484I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGATTTTAAGCTTTCTCGGAA	0.423										HNSCC(36;0.09)																																						1	Substitution - Missense(1)	ovary(1)	7											50	51	51					7																	88963746		2203	4299	6502	88801682	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1450C>A	7.37:g.88963746C>A	ENSP00000329638:p.Leu484Ile		88801682	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618445	0.46736	.	.	ENSG00000182348	ENST00000333190	T	0.06528	3.29	5.49	4.61	0.57282	.	0.442309	0.21471	N	0.073982	T	0.09158	0.0226	M	0.76328	2.33	0.30891	N	0.730365	B	0.31680	0.335	B	0.26614	0.071	T	0.03139	-1.1068	10	0.46703	T	0.11	-6.9896	9.2362	0.37468	0.1466:0.7818:0.0:0.0717	.	484	A4D1E1	Z804B_HUMAN	I	484	ENSP00000329638:L484I	ENSP00000329638:L484I	L	+	1	0	ZNF804B	88801682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.855000	0.48333	1.529000	0.49120	0.655000	0.94253	CTT		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		A	88963746	C	A	88963746	3	1	405	1	0	0	0	0	1	0	0	0	18171	797	28	3	1464	3	ZNF804B	7	88963746	Missense_Mutation	SNP	C	TCGA-57-1582-01A-01W-0615-10	33690466	88963746	70174917	22	22265											
SLC7A2	6542	hgsc.bcm.edu	37	8	17401015	17401015	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr8:17401015C>A	ENST00000494857.1	+	3	385	c.167C>A	c.(166-168)gCt>gAt	p.A56D	SLC7A2_ENST00000004531.10_Missense_Mutation_p.A96D|SLC7A2_ENST00000470360.1_Missense_Mutation_p.A96D|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A96D|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A56D	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	56					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.A56D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TATGTCCTCGCTGGGGAGGTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	8											65	54	57					8																	17401015		2203	4300	6503	17445394	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.167C>A	8.37:g.17401015C>A	ENSP00000419140:p.Ala56Asp		17445394	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631176	0.67015	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.81914	0.988;0.988;0.995	D	0.97250	0.9897	10	0.87932	D	0	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	96;96;56	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	D	56;56;96;96;96	ENSP00000419140:A56D;ENSP00000430464:A56D;ENSP00000419873:A96D;ENSP00000004531:A96D;ENSP00000381164:A96D	ENSP00000004531:A96D	A	+	2	0	SLC7A2	17445394	1.000000	0.71417	0.084000	0.20598	0.040000	0.13550	7.783000	0.85696	2.832000	0.97577	0.655000	0.94253	GCT		0.587	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		A	17401015	C	A	17401015	3	1	405	1	0	0	0	0	1	0	0	0	14700	797	28	3	293	3	SLC7A2	8	17401015	Missense_Mutation	SNP	C	TCGA-57-1582-01A-01W-0615-10		17401015	128963007	23	22266											
PREX2	80243	hgsc.bcm.edu	37	8	69009330	69009330	+	Missense_Mutation	SNP	A	A	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr8:69009330A>T	ENST00000288368.4	+	22	2724	c.2447A>T	c.(2446-2448)cAc>cTc	p.H816L	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	816					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.H816L(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GACAATGTCCACCTGGAATAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	8											185	158	167					8																	69009330		2203	4300	6503	69171884	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2447A>T	8.37:g.69009330A>T	ENSP00000288368:p.His816Leu		69171884	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512353	0.85389	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.42131	0.98	6.16	6.16	0.99307	.	0.053513	0.64402	D	0.000001	T	0.56411	0.1983	M	0.66939	2.045	0.80722	D	1	P;B;P	0.37061	0.58;0.444;0.58	B;B;P	0.47864	0.373;0.272;0.559	T	0.57837	-0.7742	10	0.72032	D	0.01	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	816;816;816	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	L	816	ENSP00000288368:H816L	ENSP00000288368:H816L	H	+	2	0	PREX2	69171884	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.296000	0.96104	2.367000	0.80283	0.528000	0.53228	CAC		0.443	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		T	69009330	A	T	69009330	3	4	405	1	0	0	0	0	1	0	0	0	12480	159	6	5	2533	5	PREX2	8	69009330	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10	51608315	69009330	77354692	24	22267											
COL14A1	7373	hgsc.bcm.edu	37	8	121309824	121309824	+	Silent	SNP	C	C	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr8:121309824C>A	ENST00000297848.3	+	35	4581	c.4311C>A	c.(4309-4311)ggC>ggA	p.G1437G	COL14A1_ENST00000309791.4_Silent_p.G1437G|COL14A1_ENST00000247781.3_Silent_p.G1342G	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.G1437G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACTTCCAGGCCTGGTAAGAA	0.323																																																1	Substitution - coding silent(1)	ovary(1)	8											66	62	63					8																	121309824		2203	4298	6501	121379005	SO:0001819	synonymous_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4311C>A	8.37:g.121309824C>A			121379005		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																				0.323	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121309824	C	A	121309824	2	1	405	1	0	0	0	0	0	0	0	1	3671	726	26	3		3	COL14A1	8	121309824	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10	52300494	121309824	25054198	25	22268											
GSDMC	56169	hgsc.bcm.edu	37	8	130774937	130774937	+	Missense_Mutation	SNP	G	G	C	rs200990251	byFrequency	TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr8:130774937G>C	ENST00000276708.4	-	5	1492	c.611C>G	c.(610-612)gCg>gGg	p.A204G		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	204						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.A204G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AAGAGTCAGCGCCTTCTTCTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	8											225	200	209					8																	130774937		2203	4300	6503	130844119	SO:0001583	missense	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.611C>G	8.37:g.130774937G>C	ENSP00000276708:p.Ala204Gly		130844119	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164380	0.01673	.	.	ENSG00000147697	ENST00000276708	T	0.23552	1.9	4.13	-8.25	0.01025	.	2.361010	0.01817	N	0.033795	T	0.19725	0.0474	L	0.32530	0.975	0.09310	N	1	P	0.37038	0.579	B	0.38428	0.273	T	0.40664	-0.9551	10	0.62326	D	0.03	.	7.1368	0.25533	0.461:0.0:0.1228:0.4162	.	204	Q9BYG8	GSDMC_HUMAN	G	204	ENSP00000276708:A204G	ENSP00000276708:A204G	A	-	2	0	GSDMC	130844119	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.885000	0.00092	-5.290000	0.00017	-1.478000	0.00992	GCG		0.478	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			C	130774937	G	C	130774937	3	2	405	1	0	0	0	0	1	0	0	0	6818	1087	38	3	955	3	GSDMC	8	130774937	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	9465113	130774937	15589085	26	22269											
CHRAC1	54108	hgsc.bcm.edu	37	8	141521637	141521637	+	Silent	SNP	G	G	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr8:141521637G>A	ENST00000220913.5	+	1	241	c.39G>A	c.(37-39)gaG>gaA	p.E13E	CHRAC1_ENST00000519533.1_Silent_p.E13E	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	13					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)	p.E13E(1)		ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGGCGGGGAGCAGCGGCTCA	0.692																																																1	Substitution - coding silent(1)	ovary(1)	8											19	16	17					8																	141521637		2186	4291	6477	141590819	SO:0001819	synonymous_variant	54108			AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"histone-fold protein CHRAC15"	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.39G>A	8.37:g.141521637G>A			141590819		Silent	SNP	ENST00000220913.5	37	CCDS6379.1																																																																																				0.692	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		A	141521637	G	A	141521637	2	1	405	1	0	0	0	0	0	0	0	1	3371	962	34	2		2	CHRAC1	8	141521637	Silent	SNP	G	TCGA-57-1582-01A-01W-0615-10	10746700	141521637	4842385	27	22270											
LYPD2	137797	hgsc.bcm.edu	37	8	143832477	143832477	+	Missense_Mutation	SNP	C	C	T	rs200148718		TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr8:143832477C>T	ENST00000359228.3	-	2	252	c.170G>A	c.(169-171)cGg>cAg	p.R57Q		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	57	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R57Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCTATCTCCCGGGAGTAGAG	0.622													C|||	1	0.000199681	0	0	5008	,	,		18144	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	8											209	179	189					8																	143832477		2203	4300	6503	143829479	SO:0001583	missense	137797			AY358432	CCDS6388.1	8q24.3	2005-08-30		2005-08-30	ENSG00000197353	ENSG00000197353			25215	protein-coding gene	gene with protein product				LYPDC2		12975309	Standard	NM_205545		Approved	RGTR430, UNQ430	uc003ywz.3	Q6UXB3	OTTHUMG00000164686	ENST00000359228.3:c.170G>A	8.37:g.143832477C>T	ENSP00000352163:p.Arg57Gln		143829479	A8K2R6|Q0VD64|Q0VF31	Missense_Mutation	SNP	ENST00000359228.3	37	CCDS6388.1	169	0.07738095238095238	60	0.12195121951219512	16	0.04419889502762431	34	0.05944055944055944	59	0.07783641160949868	C	21.5	4.159785	0.78226	.	.	ENSG00000197353	ENST00000359228	T	0.80214	-1.35	5.0	-8.9	0.00782	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	1.916960	0.02765	N	0.119020	T	0.03263	0.0095	L	0.54323	1.7	0.21290	N	0.999736	B	0.25743	0.133	B	0.22601	0.04	T	0.53878	-0.8376	10	0.62326	D	0.03	.	12.3846	0.55325	0.194:0.6973:0.0:0.1087	.	57	Q6UXB3	LYPD2_HUMAN	Q	57	ENSP00000352163:R57Q	ENSP00000352163:R57Q	R	-	2	0	LYPD2	143829479	0.816000	0.29132	0.874000	0.34290	0.789000	0.44602	-0.412000	0.07132	-1.339000	0.02230	-0.397000	0.06425	CGG		0.622	LYPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379742.1	NM_205545		T	143832477	C	T	143832477	3	4	405	1	0	0	0	0	1	0	0	0	9110	652	23	1	215	1	LYPD2	8	143832477	Missense_Mutation	SNP	C	TCGA-57-1582-01A-01W-0615-10	2310840	143832477	2531545	28	22271											
KLHL9	55958	hgsc.bcm.edu	37	9	21333640	21333640	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr9:21333640G>A	ENST00000359039.4	-	1	1739	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	KLHL9_ENST00000537938.1_Missense_Mutation_p.R339C			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	407					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.R407C(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCTGCACTGCGCCCACCAACT	0.448																																																1	Substitution - Missense(1)	ovary(1)	9											102	93	96					9																	21333640		2203	4300	6503	21323640	SO:0001583	missense	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1219C>T	9.37:g.21333640G>A	ENSP00000351933:p.Arg407Cys		21323640	Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426563	0.43020	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.77750	-1.12;-1.12	4.68	3.78	0.43462	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	U	0.000000	D	0.84982	0.5593	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85264	0.1052	10	0.56958	D	0.05	.	12.2518	0.54601	0.0:0.0:0.8285:0.1715	.	407	Q9P2J3	KLHL9_HUMAN	C	407;339	ENSP00000351933:R407C;ENSP00000437733:R339C	ENSP00000351933:R407C	R	-	1	0	KLHL9	21323640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.293000	0.51779	1.092000	0.41356	0.655000	0.94253	CGC		0.448	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		A	21333640	G	A	21333640	3	1	405	1	0	0	0	0	1	0	0	0	8396	1087	38	1	638	1	KLHL9	9	21333640	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10		21333640	119879791	29	22272											
CNTFR	1271	hgsc.bcm.edu	37	9	34556274	34556274	+	Silent	SNP	G	G	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr9:34556274G>T	ENST00000378980.3	-	7	1040	c.747C>A	c.(745-747)ctC>ctA	p.L249L	CNTFR_ENST00000351266.4_Silent_p.L249L	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	249	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.L249L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GGTCCAGGATGAGGGGTCGGT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	9											69	50	56					9																	34556274		2203	4300	6503	34546274	SO:0001819	synonymous_variant	1271			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.747C>A	9.37:g.34556274G>T			34546274	Q5U050	Silent	SNP	ENST00000378980.3	37	CCDS6558.1																																																																																				0.612	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			T	34556274	G	T	34556274	2	4	405	1	0	0	0	0	0	0	0	1	3638	1277	45	3		3	CNTFR	9	34556274	Silent	SNP	G	TCGA-57-1582-01A-01W-0615-10	13222634	34556274	106657157	30	22273											
ECM2	1842	hgsc.bcm.edu	37	9	95277072	95277072	+	Nonsense_Mutation	SNP	G	G	A	rs138357265		TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr9:95277072G>A	ENST00000344604.5	-	4	1044	c.895C>T	c.(895-897)Cga>Tga	p.R299*	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Nonsense_Mutation_p.R277*	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	299					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R299*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GAGGGCATTCGGAACATATCT	0.617																																																1	Substitution - Nonsense(1)	ovary(1)	9						G	,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	286	209	235		,829,829,895	-0.2	0	9	dbSNP_134	235	4,8596	3.7+/-12.6	0,4,4296	yes	intron,stop-gained,stop-gained,stop-gained	ECM2,CENPP	NM_001012267.1,NM_001197295.1,NM_001197296.1,NM_001393.3	,,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,,	,277/678,277/644,299/700	95277072	4,13002	2203	4300	6503	94316893	SO:0001587	stop_gained	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.895C>T	9.37:g.95277072G>A	ENSP00000344758:p.Arg299*		94316893	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Nonsense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315333	0.60524	0.0	4.65E-4	ENSG00000106823	ENST00000444490;ENST00000344604	.	.	.	4.73	-0.158	0.13383	.	0.504096	0.20520	N	0.090707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9186	0.63916	0.0:0.0:0.4725:0.5275	.	.	.	.	X	277;299	.	ENSP00000344758:R299X	R	-	1	2	ECM2	94316893	0.997000	0.39634	0.000000	0.03702	0.017000	0.09413	0.948000	0.29096	-0.105000	0.12132	0.655000	0.94253	CGA		0.617	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		A	95277072	G	A	95277072	4	1	405	1	0	0	0	0	0	1	0	0	4898	1124	39	1	1232	1	ECM2	9	95277072	Nonsense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	60720798	95277072	45936359	31	22274											
SMC2	10592	hgsc.bcm.edu	37	9	106887380	106887380	+	Missense_Mutation	SNP	A	A	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr9:106887380A>C	ENST00000286398.7	+	18	2733	c.2445A>C	c.(2443-2445)aaA>aaC	p.K815N	SMC2_ENST00000303219.8_Missense_Mutation_p.K815N|SMC2_ENST00000374787.3_Missense_Mutation_p.K815N|SMC2_ENST00000374793.3_Missense_Mutation_p.K815N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	815					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.K815N(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGAAAGAAAAACAACAGGTAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	9											85	93	90					9																	106887380		2203	4300	6503	105927201	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2445A>C	9.37:g.106887380A>C	ENSP00000286398:p.Lys815Asn		105927201	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356405	0.61293	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.93	-1.59	0.08453	.	0.044972	0.85682	D	0.000000	T	0.78084	0.4228	M	0.83603	2.65	0.44181	D	0.996995	P	0.41188	0.741	P	0.44422	0.449	T	0.75880	-0.3161	10	0.48119	T	0.1	-14.949	10.0634	0.42288	0.4059:0.0:0.5941:0.0	.	815	O95347	SMC2_HUMAN	N	815	ENSP00000286398:K815N;ENSP00000363925:K815N;ENSP00000306152:K815N;ENSP00000363919:K815N	ENSP00000286398:K815N	K	+	3	2	SMC2	105927201	0.999000	0.42202	0.997000	0.53966	0.939000	0.58152	0.507000	0.22675	-0.138000	0.11434	0.482000	0.46254	AAA		0.373	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			C	106887380	A	C	106887380	3	2	405	1	0	0	0	0	1	0	0	0	14786	40	2	5	2511	5	SMC2	9	106887380	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10	11610308	106887380	34326051	32	22275											
RIC3	79608	hgsc.bcm.edu	37	11	8190440	8190440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr11:8190440delG	ENST00000309737.6	-	1	96	c.97delC	c.(97-99)cggfs	p.R33fs	RIC3_ENST00000539720.1_5'UTR|RIC3_ENST00000343202.4_Frame_Shift_Del_p.R33fs|RIC3_ENST00000419822.2_Frame_Shift_Del_p.R33fs|RP11-379P15.1_ENST00000499752.2_lincRNA|RIC3_ENST00000335425.7_Frame_Shift_Del_p.R33fs|RIC3_ENST00000425599.2_Frame_Shift_Del_p.R33fs			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	33					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R33fs*18(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GGCTCCTGCCGCTTCCCGCGG	0.652																																																1	Deletion - Frameshift(1)	ovary(1)	11											23	26	25					11																	8190440		2184	4268	6452	8147016	SO:0001589	frameshift_variant	79608				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.97delC	11.37:g.8190440delG	ENSP00000308820:p.Arg33fs		8147016	B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Frame_Shift_Del	DEL	ENST00000309737.6	37	CCDS55742.1																																																																																				0.652	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		-	8190440	G	-	8190440	7	5	405	1	0	1	0	1	0	0	0	0	13357	1086	38	0	1033	0	RIC3	11	8190440	Frame_Shift_Del	DEL	G	TCGA-57-1582-01A-01W-0615-10		8190440	126816076	33	22276											
SAPS3	55291	hgsc.bcm.edu	37	11	68305203	68305203	+	Missense_Mutation	SNP	T	T	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr11:68305203T>G	ENST00000393800.2	+	3	325	c.71T>G	c.(70-72)cTg>cGg	p.L24R	PPP6R3_ENST00000524845.1_Missense_Mutation_p.L24R|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L24R|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000527403.2_Missense_Mutation_p.L24R|PPP6R3_ENST00000265636.5_Missense_Mutation_p.L24R|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L24R|PPP6R3_ENST00000393799.2_Missense_Mutation_p.L24R|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L24R|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L24R	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	24					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.L24R(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GATGTAACACTGAAGGAGTTA	0.353																																																1	Substitution - Missense(1)	ovary(1)	11											95	87	90					11																	68305203		2200	4294	6494	68061779	SO:0001583	missense	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.71T>G	11.37:g.68305203T>G	ENSP00000377389:p.Leu24Arg		68061779	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.502534	0.85176	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000533127;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;0.998;0.998;1.0;0.998	D	0.93496	0.6840	9	.	.	.	.	14.3003	0.66341	0.0:0.0:0.0:1.0	.	24;24;24;24;24;24	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	R	24	ENSP00000377388:L24R;ENSP00000377389:L24R;ENSP00000433768:L24R;ENSP00000433551:L24R;ENSP00000431415:L24R;ENSP00000265637:L24R;ENSP00000433058:L24R;ENSP00000377390:L24R;ENSP00000265636:L24R;ENSP00000437329:L24R;ENSP00000433565:L24R;ENSP00000432837:L24R	.	L	+	2	0	PPP6R3	68061779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.774000	0.85478	1.973000	0.57446	0.455000	0.32223	CTG		0.353	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		G	68305203	T	G	68305203	3	3	405	1	0	0	0	0	1	0	0	0	13841	1580	55	5	73	5	SAPS3	11	68305203	Missense_Mutation	SNP	T	TCGA-57-1582-01A-01W-0615-10	60114763	68305203	66701313	34	22277											
VWF	7450	hgsc.bcm.edu	37	12	6077331	6077331	+	Missense_Mutation	SNP	G	G	C	rs369970893		TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr12:6077331G>C	ENST00000261405.5	-	46	7986	c.7732C>G	c.(7732-7734)Cgc>Ggc	p.R2578G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2578					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R2578G(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTCCATGCGCTCTGGGGGA	0.607																																																1	Substitution - Missense(1)	ovary(1)	12											82	73	76					12																	6077331		2203	4300	6503	5947592	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7732C>G	12.37:g.6077331G>C	ENSP00000261405:p.Arg2578Gly		5947592	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489378	0.26686	.	.	ENSG00000110799	ENST00000261405	T	0.36878	1.23	4.73	4.73	0.59995	.	0.387849	0.19600	N	0.110410	T	0.21674	0.0522	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06373	-1.0830	10	0.72032	D	0.01	.	13.3986	0.60870	0.0:0.0:1.0:0.0	.	2578	P04275	VWF_HUMAN	G	2578	ENSP00000261405:R2578G	ENSP00000261405:R2578G	R	-	1	0	VWF	5947592	1.000000	0.71417	0.993000	0.49108	0.218000	0.24690	2.736000	0.47385	2.615000	0.88500	0.555000	0.69702	CGC		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6077331	G	C	6077331	3	2	405	1	0	0	0	0	1	0	0	0	17246	1087	38	3	737	3	VWF	12	6077331	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10		6077331	127774564	35	22278											
CD163	9332	hgsc.bcm.edu	37	12	7653941	7653941	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr12:7653941G>C	ENST00000359156.4	-	3	453	c.251C>G	c.(250-252)gCg>gGg	p.A84G	CD163_ENST00000541972.1_Missense_Mutation_p.A72G|CD163_ENST00000396620.3_Missense_Mutation_p.A84G|CD163_ENST00000432237.2_Missense_Mutation_p.A84G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	84	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.A84G(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACAGAGACCGCTTCCATGCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	12											144	133	137					12																	7653941		2203	4300	6503	7545208	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.251C>G	12.37:g.7653941G>C	ENSP00000352071:p.Ala84Gly		7545208	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	8.258	0.810469	0.16537	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.02	-0.252	0.12999	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.644600	0.13835	N	0.359422	T	0.32010	0.0815	L	0.43923	1.385	0.09310	N	1	P;B;P	0.45634	0.863;0.312;0.563	P;B;B	0.45343	0.477;0.066;0.216	T	0.17653	-1.0362	10	0.62326	D	0.03	.	8.1995	0.31417	0.1199:0.0:0.4427:0.4374	.	84;84;84	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	G	84;72;84;84	ENSP00000352071:A84G;ENSP00000444071:A72G;ENSP00000379863:A84G;ENSP00000403885:A84G	ENSP00000352071:A84G	A	-	2	0	CD163	7545208	0.827000	0.29292	0.001000	0.08648	0.015000	0.08874	2.251000	0.43187	-0.119000	0.11830	-0.457000	0.05445	GCG		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		C	7653941	G	C	7653941	3	2	405	1	0	0	0	0	1	0	0	0	2967	1087	38	3	3275	3	CD163	12	7653941	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	1576610	7653941	126197954	36	22279											
CD63	967	hgsc.bcm.edu	37	12	56120578	56120578	+	Splice_Site	SNP	A	A	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr12:56120578A>G	ENST00000549117.1	-	5	768	c.332T>C	c.(331-333)gTg>gCg	p.V111A	CD63_ENST00000548898.1_Splice_Site_p.V18A|CD63_ENST00000546939.1_Splice_Site_p.V29A|CD63_ENST00000548160.1_Splice_Site_p.V18A|CD63_ENST00000552692.1_Splice_Site_p.V111A|CD63_ENST00000257857.4_Splice_Site_p.V111A|CD63_ENST00000552067.1_Splice_Site_p.V18A|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000552754.1_Splice_Site_p.V88A|CD63_ENST00000420846.3_Splice_Site_p.V111A|CD63_ENST00000550776.1_Splice_Site_p.V29A	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	111					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)		p.V111A(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CTCTGACATCACCTGAGAGTA	0.512																																					Pancreas(123;1459 1747 6717 18841 37380)											1	Substitution - Missense(1)	ovary(1)	12											131	129	130					12																	56120578		2203	4300	6503	54406845	SO:0001630	splice_region_variant	967			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.331-1T>C	12.37:g.56120578A>G			54406845	F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778246	0.49786	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173;ENST00000546457	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.2	5.2	0.72013	Tetraspanin, EC2 domain (1);	0.389217	0.24583	N	0.037299	D	0.91637	0.7357	L	0.53561	1.675	0.52501	D	0.999958	D;P;B	0.71674	0.998;0.616;0.41	D;P;B	0.67382	0.951;0.53;0.241	D	0.90644	0.4577	10	0.39692	T	0.17	.	11.7535	0.51862	1.0:0.0:0.0:0.0	.	88;111;111	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	A	18;18;111;18;29;111;111;111;88;29;111;111;111	ENSP00000447938:V18A;ENSP00000449684:V18A;ENSP00000393502:V111A;ENSP00000449654:V18A;ENSP00000447356:V29A;ENSP00000449337:V111A;ENSP00000447730:V111A;ENSP00000257857:V111A;ENSP00000446807:V88A;ENSP00000448091:V29A;ENSP00000449281:V111A;ENSP00000446752:V111A;ENSP00000450191:V111A	ENSP00000257857:V111A	V	-	2	0	CD63	54406845	0.658000	0.27402	0.922000	0.36590	0.103000	0.19146	2.352000	0.44080	2.113000	0.64589	0.482000	0.46254	GTG		0.512	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1		Missense_Mutation	G	56120578	A	G	56120578	5	3	405	1	0	0	0	0	0	0	1	0	3029	173	6	4	400	4	CD63	12	56120578	Splice_Site	SNP	A	TCGA-57-1582-01A-01W-0615-10	48466637	56120578	77731317	37	22280											
GLI1	2735	hgsc.bcm.edu	37	12	57858606	57858606	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr12:57858606C>T	ENST00000228682.2	+	4	435	c.344C>T	c.(343-345)aCa>aTa	p.T115I	GLI1_ENST00000543426.1_5'UTR|GLI1_ENST00000546141.1_Missense_Mutation_p.T74I	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	115					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.T115I(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCGCGATGCACATCTCCAGGA	0.587																																					Pancreas(157;841 1936 10503 41495 50368)											1	Substitution - Missense(1)	ovary(1)	12											129	109	115					12																	57858606		2203	4300	6503	56144873	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.344C>T	12.37:g.57858606C>T	ENSP00000228682:p.Thr115Ile		56144873	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	c	14.12	2.440550	0.43326	.	.	ENSG00000111087	ENST00000228682;ENST00000546141;ENST00000528432;ENST00000528467	T;T;T	0.12569	2.67;2.75;2.75	3.62	3.62	0.41486	.	0.317399	0.22373	N	0.060913	T	0.12220	0.0297	L	0.29908	0.895	0.80722	D	1	B	0.20164	0.042	B	0.19391	0.025	T	0.10428	-1.0630	10	0.87932	D	0	.	14.557	0.68106	0.0:1.0:0.0:0.0	.	115	P08151	GLI1_HUMAN	I	115;74;115;74	ENSP00000228682:T115I;ENSP00000441006:T74I;ENSP00000434408:T74I	ENSP00000228682:T115I	T	+	2	0	GLI1	56144873	0.018000	0.18449	0.997000	0.53966	0.825000	0.46686	1.788000	0.38714	2.017000	0.59298	0.556000	0.70494	ACA		0.587	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		T	57858606	C	T	57858606	3	4	405	1	0	0	0	0	1	0	0	0	6437	478	17	2	354	2	GLI1	12	57858606	Missense_Mutation	SNP	C	TCGA-57-1582-01A-01W-0615-10	1738028	57858606	75993289	38	22281											
EEA1	8411	hgsc.bcm.edu	37	12	93172961	93172961	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr12:93172961A>G	ENST00000322349.8	-	25	3848	c.3584T>C	c.(3583-3585)aTa>aCa	p.I1195T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1195	Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.I1195T(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTCTTTTAGTATCTGCTGATT	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											179	172	174					12																	93172961		2203	4299	6502	91697092	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3584T>C	12.37:g.93172961A>G	ENSP00000317955:p.Ile1195Thr		91697092	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	A	0.081	-1.184290	0.01620	.	.	ENSG00000102189	ENST00000322349	T	0.64260	-0.09	5.63	3.25	0.37280	.	0.716289	0.12922	N	0.428077	T	0.39682	0.1087	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	10	0.15499	T	0.54	.	7.2384	0.26082	0.6474:0.0:0.3526:0.0	.	1195	Q15075	EEA1_HUMAN	T	1195	ENSP00000317955:I1195T	ENSP00000317955:I1195T	I	-	2	0	EEA1	91697092	0.008000	0.16893	0.131000	0.22000	0.386000	0.30323	1.016000	0.29976	0.972000	0.38314	0.455000	0.32223	ATA		0.403	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		G	93172961	A	G	93172961	3	3	405	1	0	0	0	0	1	0	0	0	4921	449	16	4	671	4	EEA1	12	93172961	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10	35314355	93172961	40678934	39	22282											
ANO4	121601	hgsc.bcm.edu	37	12	101505349	101505349	+	Missense_Mutation	SNP	T	T	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr12:101505349T>C	ENST00000392977.3	+	24	2521	c.2311T>C	c.(2311-2313)Tat>Cat	p.Y771H	ANO4_ENST00000392979.3_Missense_Mutation_p.Y736H|ANO4_ENST00000299222.9_Missense_Mutation_p.Y291H|ANO4_ENST00000550015.1_Missense_Mutation_p.Y291H			Q32M45	ANO4_HUMAN	anoctamin 4	771					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.Y736H(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGGAATTTGGTATGGAATTCT	0.318										HNSCC(74;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											113	112	112					12																	101505349		2203	4300	6503	100029480	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2311T>C	12.37:g.101505349T>C	ENSP00000376703:p.Tyr771His		100029480	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	T	13.74	2.327620	0.41197	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000002	T	0.64260	0.2582	M	0.61703	1.905	0.58432	D	0.999996	B;B;B	0.25719	0.016;0.132;0.016	B;B;B	0.34138	0.045;0.176;0.033	T	0.61108	-0.7129	10	0.32370	T	0.25	.	15.7972	0.78420	0.0:0.0:0.0:1.0	.	291;771;736	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	H	736;291;771;291	ENSP00000376705:Y736H;ENSP00000299222:Y291H;ENSP00000376703:Y771H;ENSP00000450192:Y291H	ENSP00000299222:Y291H	Y	+	1	0	ANO4	100029480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.226000	0.51254	2.143000	0.66587	0.533000	0.62120	TAT		0.318	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		C	101505349	T	C	101505349	3	2	405	1	0	0	0	0	1	0	0	0	699	1638	57	4	2292	4	ANO4	12	101505349	Missense_Mutation	SNP	T	TCGA-57-1582-01A-01W-0615-10	8332388	101505349	32346546	40	22283											
STAB2	55576	hgsc.bcm.edu	37	12	104136182	104136182	+	Splice_Site	SNP	G	G	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr12:104136182G>C	ENST00000388887.2	+	56	6085		c.e56-1			NM_017564.9	NP_060034.9			stabilin 2									p.?(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATCTCTTCCAGCCTGCCCTGG	0.537																																																1	Unknown(1)	ovary(1)	12											108	98	102					12																	104136182		2203	4300	6503	102660312	SO:0001630	splice_region_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5882-1G>C	12.37:g.104136182G>C			102660312		Splice_Site	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478824	0.84747	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7414	0.91774	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB2	102660312	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.921000	0.92784	2.396000	0.81511	0.563000	0.77884	.		0.537	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Intron	C	104136182	G	C	104136182	5	2	405	1	0	0	0	0	0	0	1	0	15240	985	34	3	6103	3	STAB2	12	104136182	Splice_Site	SNP	G	TCGA-57-1582-01A-01W-0615-10	2630833	104136182	29715713	41	22284											
MED13L	23389	hgsc.bcm.edu	37	12	116406877	116406877	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr12:116406877G>C	ENST00000281928.3	-	28	6299	c.6093C>G	c.(6091-6093)ttC>ttG	p.F2031L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2031						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.F2031L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TATCATCTGGGAATGGAAGGT	0.413																																																1	Substitution - Missense(1)	ovary(1)	12											70	72	71					12																	116406877		2203	4300	6503	114891260	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6093C>G	12.37:g.116406877G>C	ENSP00000281928:p.Phe2031Leu		114891260	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840503	0.51057	.	.	ENSG00000123066	ENST00000281928	T	0.73152	-0.72	6.06	5.16	0.70880	.	0.047813	0.85682	D	0.000000	T	0.66616	0.2807	N	0.17278	0.47	0.58432	D	0.999997	D	0.76494	0.999	D	0.79108	0.992	T	0.64516	-0.6389	10	0.02654	T	1	-18.5147	10.7725	0.46332	0.1994:0.0:0.8006:0.0	.	2031	Q71F56	MD13L_HUMAN	L	2031	ENSP00000281928:F2031L	ENSP00000281928:F2031L	F	-	3	2	MED13L	114891260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.160000	0.42348	1.538000	0.49270	0.655000	0.94253	TTC		0.413	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			C	116406877	G	C	116406877	3	2	405	1	0	0	0	0	1	0	0	0	9431	1165	41	3	555	3	MED13L	12	116406877	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	12270695	116406877	17445018	42	22285											
POLE	5426	hgsc.bcm.edu	37	12	133214671	133214671	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr12:133214671G>C	ENST00000320574.5	-	41	5650	c.5607C>G	c.(5605-5607)aaC>aaG	p.N1869K	POLE_ENST00000535270.1_Missense_Mutation_p.N1842K|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1869					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.N1869K(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGATGATGCGGTTGAAGTTGG	0.577								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											159	130	140					12																	133214671		2203	4300	6503	131724744	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5607C>G	12.37:g.133214671G>C	ENSP00000322570:p.Asn1869Lys	1601	131724744	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013018	0.75161	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.24723	1.84;1.84;1.84	5.68	2.36	0.29203	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.88512	2.96	0.58432	D	0.999992	P;P	0.47910	0.902;0.898	P;P	0.57548	0.716;0.823	T	0.58847	-0.7564	10	0.72032	D	0.01	.	11.9174	0.52774	0.2265:0.0:0.7735:0.0	.	1869;79	Q07864;B3KS74	DPOE1_HUMAN;.	K	79;1869;1880;1842	ENSP00000322570:N1869K;ENSP00000406383:N1880K;ENSP00000445753:N1842K	ENSP00000322570:N1869K	N	-	3	2	POLE	131724744	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.331000	0.43894	0.729000	0.32403	0.655000	0.94253	AAC		0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		C	133214671	G	C	133214671	3	2	405	1	0	0	0	0	1	0	0	0	12196	1252	44	3	1289	3	POLE	12	133214671	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	16807794	133214671	637224	43	22286											
RNASE11	122651	hgsc.bcm.edu	37	14	21052340	21052340	+	Silent	SNP	G	G	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr14:21052340G>A	ENST00000610205.1	-	3	477	c.294C>T	c.(292-294)tgC>tgT	p.C98C	RNASE11_ENST00000553849.1_Silent_p.C98C|RNASE11_ENST00000432835.2_Silent_p.C98C|RNASE11_ENST00000398008.2_Silent_p.C98C|RNASE11_ENST00000555841.1_Silent_p.C98C|RNASE11_ENST00000398009.2_Silent_p.C98C	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	98						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.C98C(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TCATGTCATTGCAACACTCTT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	14											160	143	149					14																	21052340		2203	4300	6503	20122180	SO:0001819	synonymous_variant	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.294C>T	14.37:g.21052340G>A			20122180		Silent	SNP	ENST00000610205.1	37	CCDS9553.1																																																																																				0.448	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		A	21052340	G	A	21052340	2	1	405	1	0	0	0	0	0	0	0	1	13404	1311	46	2		2	RNASE11	14	21052340	Silent	SNP	G	TCGA-57-1582-01A-01W-0615-10		21052340	86297200	44	22287											
ATL1	51062	hgsc.bcm.edu	37	14	51087327	51087328	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr14:51087327_51087328delTG	ENST00000358385.6	+	9	1114_1115	c.873_874delTG	c.(871-876)gatgaafs	p.D291fs	ATL1_ENST00000354525.4_Frame_Shift_Del_p.D291fs|ATL1_ENST00000441560.2_Frame_Shift_Del_p.D291fs|ATL1_ENST00000357032.3_Frame_Shift_Del_p.D291fs	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	291	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.D291fs*15(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAATAGATGATGAATTCATCAA	0.376																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								50157078	SO:0001589	frameshift_variant	51062			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.873_874delTG	14.37:g.51087327_51087328delTG	ENSP00000351155:p.Asp291fs		50157077	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Frame_Shift_Del	DEL	ENST00000358385.6	37	CCDS9700.1																																																																																				0.376	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			-	51087328	TG	-	51087327	7	5	405	1	0	1	0	1	0	0	0	0	1106	1461	51	0	907	0	ATL1	14	51087327	Frame_Shift_Del	DEL	TG	TCGA-57-1582-01A-01W-0615-10	30034987	51087327	56262213	45	22288											
CYP1A2	1544	hgsc.bcm.edu	37	15	75042400	75042400	+	Silent	SNP	C	C	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr15:75042400C>A	ENST00000343932.4	+	2	384	c.321C>A	c.(319-321)ggC>ggA	p.G107G		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	107					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.G107G(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	ATTTCAAGGGCCGGCCTGACC	0.677																																																1	Substitution - coding silent(1)	ovary(1)	15											52	48	49					15																	75042400		2197	4295	6492	72829453	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.321C>A	15.37:g.75042400C>A			72829453	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																				0.677	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75042400	C	A	75042400	2	1	405	1	0	0	0	0	0	0	0	1	4150	726	26	3		3	CYP1A2	15	75042400	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10		75042400	27488992	46	22289											
ACSM3	6296	hgsc.bcm.edu	37	16	20781479	20781479	+	Silent	SNP	C	C	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr16:20781479C>G	ENST00000289416.5	+	2	598	c.123C>G	c.(121-123)tcC>tcG	p.S41S	ACSM3_ENST00000440284.2_Silent_p.S41S|ACSM3_ENST00000450120.2_5'Flank	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	41					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.S41S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGAATTTCTCCAACTATGAAT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	16											88	84	86					16																	20781479		2201	4300	6501	20688980	SO:0001819	synonymous_variant	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.123C>G	16.37:g.20781479C>G			20688980	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	CCDS10589.1																																																																																				0.418	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		G	20781479	C	G	20781479	2	3	405	1	0	0	0	0	0	0	0	1	185	581	21	3		3	ACSM3	16	20781479	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10		20781479	69573274	47	22290											
FANCA	2175	hgsc.bcm.edu	37	16	89849483	89849483	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr16:89849483G>C	ENST00000389301.3	-	16	1528	c.1498C>G	c.(1498-1500)Ccc>Gcc	p.P500A	FANCA_ENST00000568369.1_Missense_Mutation_p.P500A	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	500					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P500A(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TACTTGCCGGGAACCAGGGGT	0.597			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	1	Substitution - Missense(1)	ovary(1)	16											178	137	151					16																	89849483		2198	4300	6498	88376984	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1498C>G	16.37:g.89849483G>C	ENSP00000373952:p.Pro500Ala		88376984	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978206	0.53720	.	.	ENSG00000187741	ENST00000389301	D	0.86432	-2.12	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000007	D	0.93612	0.7960	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93896	0.7184	10	0.66056	D	0.02	-25.2563	18.4531	0.90711	0.0:0.0:1.0:0.0	.	500;500	B4DRI7;O15360	.;FANCA_HUMAN	A	500	ENSP00000373952:P500A	ENSP00000373952:P500A	P	-	1	0	FANCA	88376984	1.000000	0.71417	0.140000	0.22221	0.043000	0.13939	5.001000	0.63946	2.599000	0.87857	0.555000	0.69702	CCC		0.597	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			C	89849483	G	C	89849483	3	2	405	1	0	0	0	0	1	0	0	0	5662	1174	41	3	2981	3	FANCA	16	89849483	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	69068004	89849483	505270	48	22291											
TP53	7157	hgsc.bcm.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	0.572		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"	94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	17	GRCh37	CM004907	TP53	M							126	100	109					17																	7577574		2203	4300	6503	7518299	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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys		7518299	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	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577574	T	C	7577574	3	2	405	1	0	0	0	0	1	0	0	0	16381	1638	57	4	583	4	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-57-1582-01A-01W-0615-10		7577574	73617636	49	22292											
PFAS	5198	hgsc.bcm.edu	37	17	8166537	8166537	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr17:8166537G>C	ENST00000314666.6	+	13	1654	c.1521G>C	c.(1519-1521)aaG>aaC	p.K507N	PFAS_ENST00000545834.1_Missense_Mutation_p.K83N|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	507					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.K507N(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	AGGCCCCCAAGGGAAACCCCA	0.572																																																1	Substitution - Missense(1)	ovary(1)	17											122	125	124					17																	8166537		2203	4300	6503	8107262	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1521G>C	17.37:g.8166537G>C	ENSP00000313490:p.Lys507Asn		8107262	A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010676	0.19277	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.31247	1.5;1.5	5.91	-2.91	0.05631	AIR synthase-related protein, C-terminal (2);	1.151880	0.06086	N	0.662752	T	0.21881	0.0527	L	0.33189	0.99	0.09310	N	0.999998	B;B	0.22746	0.066;0.074	B;B	0.23852	0.014;0.049	T	0.42015	-0.9476	10	0.62326	D	0.03	-0.0314	5.9257	0.19110	0.409:0.348:0.243:0.0	.	83;507	F5GWT9;O15067	.;PUR4_HUMAN	N	83;507	ENSP00000441706:K83N;ENSP00000313490:K507N	ENSP00000313490:K507N	K	+	3	2	PFAS	8107262	0.000000	0.05858	0.023000	0.16930	0.766000	0.43426	-0.832000	0.04400	-0.081000	0.12662	-0.775000	0.03384	AAG		0.572	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			C	8166537	G	C	8166537	3	2	405	1	0	0	0	0	1	0	0	0	11754	991	35	3	1567	3	PFAS	17	8166537	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	588963	8166537	73028673	50	22293											
MYH3	4621	hgsc.bcm.edu	37	17	10535905	10535905	+	Missense_Mutation	SNP	A	A	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr17:10535905A>C	ENST00000583535.1	-	34	4931	c.4844T>G	c.(4843-4845)cTc>cGc	p.L1615R	MYH3_ENST00000226209.7_Missense_Mutation_p.L1615R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1615					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.L1615R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTCTTCTTGAGCCGGATGGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	17											224	221	222					17																	10535905		2203	4300	6503	10476630	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4844T>G	17.37:g.10535905A>C	ENSP00000464317:p.Leu1615Arg		10476630	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.038862	0.93630	.	.	ENSG00000109063	ENST00000226209	T	0.79940	-1.32	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.91442	0.7299	M	0.93106	3.38	0.41098	D	0.985644	P	0.36027	0.533	P	0.53988	0.739	D	0.92626	0.6112	9	0.87932	D	0	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	1615	P11055	MYH3_HUMAN	R	1615	ENSP00000226209:L1615R	ENSP00000226209:L1615R	L	-	2	0	MYH3	10476630	1.000000	0.71417	0.974000	0.42286	0.943000	0.58893	9.326000	0.96389	2.326000	0.78906	0.533000	0.62120	CTC		0.587	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		C	10535905	A	C	10535905	3	2	405	1	0	0	0	0	1	0	0	0	10036	304	11	5	1010	5	MYH3	17	10535905	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10	2369368	10535905	70659305	51	22294											
KPNB1	3837	hgsc.bcm.edu	37	17	45734427	45734427	+	Splice_Site	SNP	G	G	C			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr17:45734427G>C	ENST00000290158.4	+	4	890		c.e4+1		KPNB1_ENST00000537679.1_Splice_Site|KPNB1_ENST00000535458.2_Splice_Site|KPNB1_ENST00000540627.1_Splice_Site|KPNB1_ENST00000577918.1_Splice_Site	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CCAAGATATAGTAAGTGCTTG	0.423																																																1	Unknown(1)	ovary(1)	17											145	121	130					17																	45734427		2203	4300	6503	43089426	SO:0001630	splice_region_variant	3837			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.483+1G>C	17.37:g.45734427G>C			43089426	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Splice_Site	SNP	ENST00000290158.4	37	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	g	23.1	4.380974	0.82792	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0505	0.97625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KPNB1	43089426	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.841000	0.99482	2.739000	0.93911	0.561000	0.74099	.		0.423	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265	Intron	C	45734427	G	C	45734427	5	2	405	1	0	0	0	0	0	0	1	0	8435	1043	36	3	498	3	KPNB1	17	45734427	Splice_Site	SNP	G	TCGA-57-1582-01A-01W-0615-10	35198522	45734427	35460783	52	22295											
EME1	146956	hgsc.bcm.edu	37	17	48453533	48453533	+	Silent	SNP	G	G	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr17:48453533G>A	ENST00000338165.4	+	3	964	c.882G>A	c.(880-882)agG>agA	p.R294R	MRPL27_ENST00000503633.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank|EME1_ENST00000511648.2_Silent_p.R294R|EME1_ENST00000393271.2_Silent_p.R294R|MRPL27_ENST00000442592.3_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	294					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R294R(1)|p.R294S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TCACTTGGAGGAGAAGGGCTG	0.522								Direct reversal of damage;Homologous recombination																																								2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	17											110	99	102					17																	48453533		2203	4300	6503	45808532	SO:0001819	synonymous_variant	146956			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.882G>A	17.37:g.48453533G>A			45808532	Q96N62	Silent	SNP	ENST00000338165.4	37	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	G	6.195	0.404071	0.11754	.	.	ENSG00000154920	ENST00000510246	.	.	.	5.25	3.28	0.37604	.	.	.	.	.	T	0.54224	0.1845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46816	-0.9164	4	.	.	.	-19.9718	5.5732	0.17208	0.2298:0.1437:0.6265:0.0	.	.	.	.	K	135	.	.	E	+	1	0	EME1	45808532	1.000000	0.71417	0.993000	0.49108	0.603000	0.37013	1.352000	0.34033	0.616000	0.30141	-0.142000	0.14014	GAG		0.522	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		A	48453533	G	A	48453533	2	1	405	1	0	0	0	0	0	0	0	1	5088	1165	41	2		2	EME1	17	48453533	Silent	SNP	G	TCGA-57-1582-01A-01W-0615-10	2719106	48453533	32741677	53	22296											
HLF	3131	hgsc.bcm.edu	37	17	53398036	53398036	+	Silent	SNP	C	C	T	rs543073591		TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr17:53398036C>T	ENST00000226067.5	+	4	1157	c.684C>T	c.(682-684)taC>taT	p.Y228Y	HLF_ENST00000575345.1_Silent_p.Y143Y|HLF_ENST00000575307.1_3'UTR|HLF_ENST00000430986.2_Silent_p.Y143Y|HLF_ENST00000573945.1_Silent_p.Y143Y	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	228	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y228Y(1)		large_intestine(1)|ovary(2)	3						ATGACAAGTACTGGGCAAGGC	0.557			T	TCF3	ALL								C|||	1	0.000199681	0	0	5008	,	,		21507	0.001		0	False		,,,				2504	0						Dom	yes		17	17q22	3131	hepatic leukemia factor		L	1	Substitution - coding silent(1)	ovary(1)	17											36	39	38					17																	53398036		2203	4300	6503	50753035	SO:0001819	synonymous_variant	3131				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.684C>T	17.37:g.53398036C>T			50753035	A8K1X8|Q6FHS9	Silent	SNP	ENST00000226067.5	37	CCDS11585.1																																																																																				0.557	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		T	53398036	C	T	53398036	2	4	405	1	0	0	0	0	0	0	0	1	7214	576	20	2		2	HLF	17	53398036	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10	4944503	53398036	27797174	54	22297											
UQCR11	10975	hgsc.bcm.edu	37	19	1599447	1599447	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr19:1599447C>G	ENST00000591899.3	-	2	234	c.163G>C	c.(163-165)Gat>Cat	p.D55H	UQCR11_ENST00000589880.1_Missense_Mutation_p.D55H|UQCR11_ENST00000585937.1_Missense_Mutation_p.D55H|UQCR11_ENST00000585671.1_Missense_Mutation_p.D55H|UQCR11_ENST00000593029.1_5'UTR	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	55					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	electron carrier activity (GO:0009055)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.D55H(1)		breast(1)|lung(2)|ovary(1)|prostate(1)	5						AATTAATTATCCTTCTTAAAC	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											92	85	87					19																	1599447		2203	4300	6503	1550447	SO:0001583	missense	10975			D55636	CCDS12073.1	19p13.3	2011-07-04	2010-01-26	2010-01-26	ENSG00000127540	ENSG00000127540		"Mitochondrial respiratory chain complex / Complex III"	30862	protein-coding gene	gene with protein product	"complex III subunit 10"	609711	"ubiquinol-cytochrome c reductase, 6.4kDa subunit"	UQCR		9161705	Standard	NM_006830		Approved	QCR10	uc002ltm.3	O14957		ENST00000591899.3:c.163G>C	19.37:g.1599447C>G	ENSP00000467262:p.Asp55His		1550447	B2R542|D6W5Z4|Q9UEA3|Q9UPK4	Missense_Mutation	SNP	ENST00000591899.3	37	CCDS12073.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978550	0.53720	.	.	ENSG00000127540	ENST00000262946	.	.	.	4.78	4.78	0.61160	.	0.065862	0.56097	D	0.000030	T	0.78679	0.4321	.	.	.	0.44073	D	0.99682	D	0.89917	1.0	D	0.73708	0.981	T	0.82102	-0.0623	8	0.87932	D	0	-25.8104	14.9631	0.71171	0.0:1.0:0.0:0.0	.	55	O14957	QCR10_HUMAN	H	55	.	ENSP00000262946:D55H	D	-	1	0	UQCR11	1550447	0.996000	0.38824	0.981000	0.43875	0.066000	0.16364	1.846000	0.39289	2.200000	0.70718	0.655000	0.94253	GAT		0.562	UQCR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449668.3	NM_006830		G	1599447	C	G	1599447	3	3	405	1	0	0	0	0	1	0	0	0	17017	855	30	3	11	3	UQCR11	19	1599447	Missense_Mutation	SNP	C	TCGA-57-1582-01A-01W-0615-10		1599447	57529536	55	22298											
FAM129C	199786	hgsc.bcm.edu	37	19	17644411	17644411	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr19:17644411G>A	ENST00000335393.4	+	5	559	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	FAM129C_ENST00000352727.3_Missense_Mutation_p.G141S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599124.1_Missense_Mutation_p.G110S|FAM129C_ENST00000599164.1_Missense_Mutation_p.G110S|FAM129C_ENST00000595684.1_Missense_Mutation_p.G141S|FAM129C_ENST00000601861.1_Missense_Mutation_p.G110S|FAM129C_ENST00000332386.5_Missense_Mutation_p.G141S|FAM129C_ENST00000600871.1_Missense_Mutation_p.G87S|FAM129C_ENST00000300971.2_Missense_Mutation_p.G141S|FAM129C_ENST00000449408.2_5'UTR	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	141								p.G141S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGAAAACGGGGGCCACTGCCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	19											78	74	75					19																	17644411		2203	4300	6503	17505411	SO:0001583	missense	199786			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.421G>A	19.37:g.17644411G>A	ENSP00000335040:p.Gly141Ser		17505411	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259924	0.23051	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.22539	2.24;2.26;1.95;1.95	2.99	-0.518	0.11943	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	1.450390	0.04605	N	0.399144	T	0.17959	0.0431	L	0.57536	1.79	0.22034	N	0.999401	P;P	0.38078	0.617;0.617	B;B	0.36666	0.23;0.23	T	0.21143	-1.0254	10	0.12766	T	0.61	-3.6772	3.5057	0.07689	0.2441:0.2151:0.5409:0.0	.	141;141	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	S	141;141;141;141;87	ENSP00000335040:G141S;ENSP00000333447:G141S;ENSP00000341067:G141S;ENSP00000300971:G141S	ENSP00000300971:G141S	G	+	1	0	FAM129C	17505411	0.070000	0.21116	0.041000	0.18516	0.005000	0.04900	-0.032000	0.12266	0.001000	0.14605	-0.658000	0.03865	GGC		0.522	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		A	17644411	G	A	17644411	3	1	405	1	0	0	0	0	1	0	0	0	5438	1232	43	2	439	2	FAM129C	19	17644411	Missense_Mutation	SNP	G	TCGA-57-1582-01A-01W-0615-10	16044964	17644411	41484572	56	22299											
SPINT2	10653	hgsc.bcm.edu	37	19	38774400	38774400	+	Silent	SNP	C	C	T	rs112235785		TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr19:38774400C>T	ENST00000301244.7	+	2	675	c.240C>T	c.(238-240)acC>acT	p.T80T	SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_Silent_p.T30T	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	80	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T80T(1)		large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTACCTGACCAAGGAGGAGT	0.453																																																1	Substitution - coding silent(1)	ovary(1)	19											112	88	96					19																	38774400		2203	4300	6503	43466240	SO:0001819	synonymous_variant	10653			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"placental bikunin"	605124	"serine protease inhibitor, Kunitz type, 2"			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.240C>T	19.37:g.38774400C>T			43466240	A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Silent	SNP	ENST00000301244.7	37	CCDS12510.1																																																																																				0.453	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			T	38774400	C	T	38774400	2	4	405	1	0	0	0	0	0	0	0	1	15071	581	21	2		2	SPINT2	19	38774400	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10	21129989	38774400	20354583	57	22300											
XRCC1	7515	hgsc.bcm.edu	37	19	44051129	44051129	+	Splice_Site	SNP	C	C	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr19:44051129C>T	ENST00000262887.5	-	11	1747	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	XRCC1_ENST00000543982.1_Splice_Site_p.R369R			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	400	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)	p.R400R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CCATGAGGTACCTAGGGGACA	0.567								Other BER factors																																								1	Substitution - coding silent(1)	ovary(1)	19											47	46	46					19																	44051129		2203	4300	6503	48742969	SO:0001630	splice_region_variant	7515			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1200-1G>A	19.37:g.44051129C>T			48742969	Q6IBS4|Q9HCB1	Silent	SNP	ENST00000262887.5	37	CCDS12624.1																																																																																				0.567	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297	Silent	T	44051129	C	T	44051129	5	4	405	1	0	0	0	0	0	0	1	0	17452	521	18	2	729	2	XRCC1	19	44051129	Splice_Site	SNP	C	TCGA-57-1582-01A-01W-0615-10	5276729	44051129	15077854	58	22301											
GRIN2D	2906	hgsc.bcm.edu	37	19	48922495	48922495	+	Silent	SNP	C	C	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr19:48922495C>T	ENST00000263269.3	+	8	1828	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	580					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.P580P(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCCAGAGCCCTACAGCCCCG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	19											120	85	97					19																	48922495		2203	4300	6503	53614307	SO:0001819	synonymous_variant	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1740C>T	19.37:g.48922495C>T			53614307		Silent	SNP	ENST00000263269.3	37	CCDS12719.1																																																																																				0.577	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			T	48922495	C	T	48922495	2	4	405	1	0	0	0	0	0	0	0	1	6782	668	24	2		2	GRIN2D	19	48922495	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10	4871366	48922495	10206488	59	22302											
FPR1	2357	hgsc.bcm.edu	37	19	52249432	52249432	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr19:52249432C>A	ENST00000595042.1	-	3	957	c.816G>T	c.(814-816)ttG>ttT	p.L272F	FPR1_ENST00000304748.4_Missense_Mutation_p.L272F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	272					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.L272F(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	ACATGCCTTGCAATAACTCAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	19											108	86	93					19																	52249432		2203	4300	6503	56941244	SO:0001583	missense	2357			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.816G>T	19.37:g.52249432C>A	ENSP00000471493:p.Leu272Phe		56941244	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	5.327	0.245670	0.10077	.	.	ENSG00000171051	ENST00000304748	T	0.62639	0.01	3.65	-1.54	0.08584	GPCR, rhodopsin-like superfamily (1);	0.857372	0.09991	N	0.729752	T	0.59542	0.2201	M	0.73962	2.25	0.09310	N	1	B	0.29270	0.24	B	0.35727	0.209	T	0.52419	-0.8578	10	0.24483	T	0.36	.	7.6444	0.28312	0.2986:0.6048:0.0:0.0966	.	272	P21462	FPR1_HUMAN	F	272	ENSP00000302707:L272F	ENSP00000302707:L272F	L	-	3	2	FPR1	56941244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.600000	0.02083	-0.337000	0.08426	-0.961000	0.02630	TTG		0.512	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		A	52249432	C	A	52249432	3	1	405	1	0	0	0	0	1	0	0	0	6038	709	25	3	240	3	FPR1	19	52249432	Missense_Mutation	SNP	C	TCGA-57-1582-01A-01W-0615-10	3326937	52249432	6879551	60	22303											
C20orf43	51507	hgsc.bcm.edu	37	20	55088411	55088411	+	Missense_Mutation	SNP	A	A	G	rs140687107	byFrequency	TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr20:55088411A>G	ENST00000023939.4	+	6	625	c.518A>G	c.(517-519)aAt>aGt	p.N173S	RTFDC1_ENST00000357348.5_Missense_Mutation_p.N203S|RTFDC1_ENST00000395881.3_Missense_Mutation_p.N173S|GCNT7_ENST00000243913.4_Intron	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	173								p.N173S(1)									ATCATGCTCAATGGCACCAAG	0.552													A|||	2	0.000399361	8e-04	0	5008	,	,		20003	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	20						A	SER/ASN,	1,4405	2.1+/-5.4	0,1,2202	146	88	108		518,	5.6	1	20	dbSNP_134	108	0,8600		0,0,4300	no	missense,intron	C20orf43,GCNT7	NM_016407.3,NM_080615.1	46,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,	173/307,	55088411	1,13005	2203	4300	6503	54521818	SO:0001583	missense	51507			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 43"	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.518A>G	20.37:g.55088411A>G	ENSP00000023939:p.Asn173Ser		54521818	E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	SNP	ENST00000023939.4	37	CCDS13453.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	24.4	4.532397	0.85812	2.27E-4	0.0	ENSG00000022277	ENST00000023939;ENST00000395881;ENST00000357348;ENST00000449062	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.92784	3.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.75388	-0.3335	10	0.46703	T	0.11	-30.8909	15.4933	0.75629	1.0:0.0:0.0:0.0	.	203;173;173;173	A8MSH5;A2A2L6;B2RB99;Q9BY42	.;.;.;CT043_HUMAN	S	173;173;203;203	ENSP00000023939:N173S;ENSP00000379220:N173S;ENSP00000349906:N203S;ENSP00000400322:N203S	ENSP00000023939:N173S	N	+	2	0	C20orf43	54521818	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.792000	0.69052	2.133000	0.65898	0.533000	0.62120	AAT		0.552	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2	NM_016407		G	55088411	A	G	55088411	3	3	405	1	0	0	0	0	1	0	0	0	2112	101	4	4	540	4	C20orf43	20	55088411	Missense_Mutation	SNP	A	TCGA-57-1582-01A-01W-0615-10		55088411	7937109	61	22304											
MORC2	22880	hgsc.bcm.edu	37	22	31330113	31330113	+	Silent	SNP	C	C	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr22:31330113C>T	ENST00000397641.3	-	20	2667	c.2259G>A	c.(2257-2259)gaG>gaA	p.E753E	MORC2_ENST00000215862.4_Silent_p.E691E|MORC2_ENST00000469915.1_5'Flank|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	753						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E691E(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCTTCCTCCTCTCAGCTTCCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	22											203	155	171					22																	31330113		2203	4300	6503	29660113	SO:0001819	synonymous_variant	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2259G>A	22.37:g.31330113C>T			29660113	B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37																																																																																					0.547	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		T	31330113	C	T	31330113	2	4	405	1	0	0	0	0	0	0	0	1	9702	912	32	2		2	MORC2	22	31330113	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10		31330113	19974453	62	22305											
PKDREJ	10343	hgsc.bcm.edu	37	22	46654129	46654129	+	Silent	SNP	G	G	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chr22:46654129G>A	ENST00000253255.5	-	1	5090	c.5091C>T	c.(5089-5091)ttC>ttT	p.F1697F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1697					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.F1697F(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTTTCTTTTGAATATTCTGA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	22											192	156	168					22																	46654129		2203	4300	6503	45032793	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5091C>T	22.37:g.46654129G>A			45032793	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																				0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46654129	G	A	46654129	2	1	405	1	0	0	0	0	0	0	0	1	11970	1281	45	2		2	PKDREJ	22	46654129	Silent	SNP	G	TCGA-57-1582-01A-01W-0615-10	15324016	46654129	4650437	63	22306											
TLR8	51311	hgsc.bcm.edu	37	X	12938670	12938670	+	Missense_Mutation	SNP	T	T	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chrX:12938670T>A	ENST00000218032.6	+	2	1598	c.1511T>A	c.(1510-1512)cTt>cAt	p.L504H	TLR8_ENST00000311912.5_Missense_Mutation_p.L522H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	504					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.L522H(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TTTGAAAATCTTCCTGACATT	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											47	45	45					X																	12938670		2203	4300	6503	12848591	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1511T>A	X.37:g.12938670T>A	ENSP00000218032:p.Leu504His		12848591	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457380	0.26161	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	D;D	0.82893	-1.66;-1.66	5.97	5.97	0.96955	.	0.184908	0.26099	N	0.026349	D	0.89739	0.6802	M	0.86953	2.85	0.09310	N	1	D;D	0.57899	0.981;0.981	P;P	0.53185	0.72;0.72	D	0.85547	0.1219	10	0.87932	D	0	.	15.3964	0.74798	0.0:0.0:0.0:1.0	.	504;522	Q9NR97;D1CS70	TLR8_HUMAN;.	H	504;522	ENSP00000218032:L504H;ENSP00000312082:L522H	ENSP00000218032:L504H	L	+	2	0	TLR8	12848591	0.340000	0.24792	0.020000	0.16555	0.151000	0.21798	3.284000	0.51708	2.020000	0.59435	0.486000	0.48141	CTT		0.373	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		A	12938670	T	A	12938670	3	1	405	1	0	0	0	0	1	0	0	0	15957	1609	56	5	1517	5	TLR8	23	12938670	Missense_Mutation	SNP	T	TCGA-57-1582-01A-01W-0615-10		12938670	142331890	64	22307											
CTPS2	56474	hgsc.bcm.edu	37	X	16635355	16635355	+	Silent	SNP	C	C	G			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chrX:16635355C>G	ENST00000443824.1	-	16	2207	c.1464G>C	c.(1462-1464)ctG>ctC	p.L488L	CTPS2_ENST00000359276.4_Silent_p.L488L|CTPS2_ENST00000380241.3_Silent_p.L488L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	488	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.L488L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATTGTTTGATCAGGTTAGGGT	0.428																																																1	Substitution - coding silent(1)	ovary(1)	X											153	133	140					X																	16635355		2203	4300	6503	16545276	SO:0001819	synonymous_variant	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1464G>C	X.37:g.16635355C>G			16545276	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	CCDS14175.1																																																																																				0.428	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		G	16635355	C	G	16635355	2	3	405	1	0	0	0	0	0	0	0	1	4023	813	29	3		3	CTPS2	23	16635355	Silent	SNP	C	TCGA-57-1582-01A-01W-0615-10	3696685	16635355	138635205	65	22308											
SHROOM4	57477	hgsc.bcm.edu	37	X	50378508	50378508	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chrX:50378508C>T	ENST00000289292.7	-	4	848	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	SHROOM4_ENST00000460112.3_Missense_Mutation_p.A73T|SHROOM4_ENST00000376020.2_Missense_Mutation_p.A189T			Q9ULL8	SHRM4_HUMAN	shroom family member 4	189					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.A189T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGCTGTAGGCTGAGTCACGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	X											79	50	60					X																	50378508		2203	4300	6503	50395248	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.565G>A	X.37:g.50378508C>T	ENSP00000289292:p.Ala189Thr		50395248	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170539	0.57584	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.64618	0.08;0.08;-0.11	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	M	0.82056	2.57	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.83103	-0.0127	10	0.87932	D	0	.	18.1887	0.89800	0.0:1.0:0.0:0.0	.	189	Q9ULL8	SHRM4_HUMAN	T	189;189;73	ENSP00000289292:A189T;ENSP00000365188:A189T;ENSP00000421450:A73T	ENSP00000289292:A189T	A	-	1	0	SHROOM4	50395248	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.244000	0.78228	2.574000	0.86865	0.600000	0.82982	GCC		0.567	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		T	50378508	C	T	50378508	3	4	405	1	0	0	0	0	1	0	0	0	14299	797	28	2	3940	2	SHROOM4	23	50378508	Missense_Mutation	SNP	C	TCGA-57-1582-01A-01W-0615-10	33743153	50378508	104892052	66	22309											
GRIA3	2892	hgsc.bcm.edu	37	X	122598936	122598936	+	Missense_Mutation	SNP	T	T	A			TCGA-57-1582-01A-01W-0615-10	TCGA-57-1582-11A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	784f628e-bf43-4253-bac7-9d0b220ce18e	85405b84-58cf-4fa3-8a80-24923dd4950e	g.chrX:122598936T>A	ENST00000371251.1	+	13	2349	c.2297T>A	c.(2296-2298)gTg>gAg	p.V766E	AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000264357.5_Missense_Mutation_p.V766E|GRIA3_ENST00000542149.1_Missense_Mutation_p.V766E|GRIA3_ENST00000371256.5_Missense_Mutation_p.V766E			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	766					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.V766E(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGCTATGGTGTGGCAACCCCT	0.423																																																2	Substitution - Missense(2)	ovary(2)	X											134	121	125					X																	122598936		2203	4300	6503	122426617	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2297T>A	X.37:g.122598936T>A	ENSP00000360297:p.Val766Glu		122426617	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	t	16.51	3.143469	0.57044	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.37	5.37	0.77165	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.81497	2.545	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.991	T	0.71137	-0.4680	10	0.87932	D	0	.	13.5028	0.61467	0.0:0.0:0.0:1.0	.	766;766	P42263;P42263-2	GRIA3_HUMAN;.	E	766	ENSP00000264357:V766E;ENSP00000446146:V766E;ENSP00000360302:V766E;ENSP00000360297:V766E	ENSP00000264357:V766E	V	+	2	0	GRIA3	122426617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	1.784000	0.52394	0.336000	0.21669	GTG		0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		A	122598936	T	A	122598936	3	1	405	1	0	0	0	0	1	0	0	0	6769	1696	59	5	2347	5	GRIA3	23	122598936	Missense_Mutation	SNP	T	TCGA-57-1582-01A-01W-0615-10	72220428	122598936	32671624	67	22310											
MEGF10	84466	hgsc.bcm.edu	37	5	126755842	126755842	+	Silent	SNP	C	C	T	rs151266058	byFrequency	TCGA-57-1583-01A-01W-0615-10	TCGA-57-1583-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7c9bdfcf-e1a6-42d7-92e8-c907d337f6d1	7769758f-22a2-4ebc-a0cf-88847f6525fb	g.chr5:126755842C>T	ENST00000274473.6	+	13	1800	c.1533C>T	c.(1531-1533)gaC>gaT	p.D511D	MEGF10_ENST00000508365.1_Silent_p.D511D|MEGF10_ENST00000418761.2_Silent_p.D511D|MEGF10_ENST00000503335.2_Silent_p.D511D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	511	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.D511D(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACACCCTGGACGGGACCTGCA	0.592													C|||	4	0.000798722	0.003	0	5008	,	,		19835	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	5						C		8,4398	12.9+/-30.5	0,8,2195	91	76	81		1533	-11.5	0.2	5	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	MEGF10	NM_032446.2		0,8,6495	TT,TC,CC		0.0,0.1816,0.0615		511/1141	126755842	8,12998	2203	4300	6503	126783741	SO:0001819	synonymous_variant	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1533C>T	5.37:g.126755842C>T			126783741	Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	CCDS4142.1																																																																																				0.592	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		T	126755842	C	T	126755842	2	4	406	1	0	0	0	0	0	0	0	1	9460	535	19	1		1	MEGF10	5	126755842	Silent	SNP	C	TCGA-57-1583-01A-01W-0615-10		126755842	54159418	1	22311											
COL14A1	7373	hgsc.bcm.edu	37	8	121222033	121222033	+	Missense_Mutation	SNP	G	G	A	rs373287048		TCGA-57-1583-01A-01W-0615-10	TCGA-57-1583-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7c9bdfcf-e1a6-42d7-92e8-c907d337f6d1	7769758f-22a2-4ebc-a0cf-88847f6525fb	g.chr8:121222033G>A	ENST00000297848.3	+	12	1630	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V454M|COL14A1_ENST00000247781.3_Missense_Mutation_p.V359M|COL14A1_ENST00000537875.1_Missense_Mutation_p.V454M	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.V454M(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACTGTACGACGTGACTGAGAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	8						G	MET/VAL	0,4406		0,0,2203	117	109	112		1360	5.3	1	8		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL14A1	NM_021110.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	454/1797	121222033	1,13005	2203	4300	6503	121291214	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1360G>A	8.37:g.121222033G>A	ENSP00000297848:p.Val454Met		121291214		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.33|16.33	3.092343|3.092343	0.55968|0.55968	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T;T	.|0.60171	.|0.21;0.21;0.21;0.21;0.21	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Fibronectin, type III (4);	.|0.140958	.|0.46145	.|D	.|0.000320	T|T	0.80793|0.80793	0.4691|0.4691	M|M	0.88512|0.88512	2.96|2.96	0.50813|0.50813	D|D	0.999897|0.999897	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.77557	.|0.983;0.99	D|D	0.83684|0.83684	0.0173|0.0173	5|10	.|0.66056	.|D	.|0.02	.|.	19.1802|19.1802	0.93620|0.93620	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|454;454	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	H|M	210|454;454;454;359;267	.|ENSP00000443974:V454M;ENSP00000311809:V454M;ENSP00000297848:V454M;ENSP00000247781:V359M;ENSP00000409461:V267M	.|ENSP00000247781:V359M	R|V	+|+	2|1	0|0	COL14A1|COL14A1	121291214|121291214	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.208000|0.208000	0.24298|0.24298	3.269000|3.269000	0.51592|0.51592	2.748000|2.748000	0.94277|0.94277	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.458	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121222033	G	A	121222033	3	1	406	1	0	0	0	0	1	0	0	0	3671	1145	40	1	1402	1	COL14A1	8	121222033	Missense_Mutation	SNP	G	TCGA-57-1583-01A-01W-0615-10		121222033	25141989	2	22312											
KIAA1529	100499483	hgsc.bcm.edu	37	9	100079450	100079450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-57-1583-01A-01W-0615-10	TCGA-57-1583-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	7c9bdfcf-e1a6-42d7-92e8-c907d337f6d1	7769758f-22a2-4ebc-a0cf-88847f6525fb	g.chr9:100079450G>A	ENST00000357054.1	+	23	2383	c.1448G>A	c.(1447-1449)tGg>tAg	p.W483*	CCDC180_ENST00000529487.1_Nonsense_Mutation_p.W344*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Nonsense_Mutation_p.W344*|CCDC180_ENST00000395220.1_Nonsense_Mutation_p.W483*|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.W341*			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	483						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.W483*(1)									CGCCACCGCTGGCAAGGCTTG	0.622																																																1	Substitution - Nonsense(1)	ovary(1)	9											44	42	43					9																	100079450		2203	4300	6503	99119271	SO:0001587	stop_gained	57653			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1448G>A	9.37:g.100079450G>A	ENSP00000349562:p.Trp483*		99119271	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	G	47	13.229932	0.99728	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	.	.	.	5.28	5.28	0.74379	.	0.292649	0.35349	N	0.003265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.2336	14.7917	0.69846	0.0:0.0:1.0:0.0	.	.	.	.	X	483;483;344;341;367;344	.	ENSP00000349562:W483X	W	+	2	0	C9orf174	99119271	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.008000	0.63991	2.654000	0.90174	0.563000	0.77884	TGG		0.622	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		A	100079450	G	A	100079450	4	1	406	1	0	0	0	0	0	1	0	0	8240	1357	47	2	1494	2	KIAA1529	9	100079450	Nonsense_Mutation	SNP	G	TCGA-57-1583-01A-01W-0615-10		100079450	41133981	3	22313											
WNT11	7481	hgsc.bcm.edu	37	11	75898143	75898143	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1583-01A-01W-0615-10	TCGA-57-1583-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7c9bdfcf-e1a6-42d7-92e8-c907d337f6d1	7769758f-22a2-4ebc-a0cf-88847f6525fb	g.chr11:75898143C>T	ENST00000322563.3	-	5	1155	c.1031G>A	c.(1030-1032)tGt>tAt	p.C344Y		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	344					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)	p.C344Y(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGTACGCTCACACCTGCGGCA	0.642																																																2	Substitution - Missense(2)	ovary(2)	11											123	90	101					11																	75898143		2200	4292	6492	75575791	SO:0001583	missense	7481			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.1031G>A	11.37:g.75898143C>T	ENSP00000325526:p.Cys344Tyr		75575791	B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371850	0.82573	.	.	ENSG00000085741	ENST00000322563	D	0.84146	-1.81	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.94735	0.8301	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96231	0.9168	10	0.87932	D	0	.	17.3486	0.87316	0.0:1.0:0.0:0.0	.	344	O96014	WNT11_HUMAN	Y	344	ENSP00000325526:C344Y	ENSP00000325526:C344Y	C	-	2	0	WNT11	75575791	1.000000	0.71417	0.898000	0.35279	0.925000	0.55904	7.705000	0.84606	2.515000	0.84797	0.305000	0.20034	TGT		0.642	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		T	75898143	C	T	75898143	3	4	406	1	0	0	0	0	1	0	0	0	17384	478	17	2	37	2	WNT11	11	75898143	Missense_Mutation	SNP	C	TCGA-57-1583-01A-01W-0615-10		75898143	59108373	4	22314											
ST3GAL2	6483	hgsc.bcm.edu	37	16	70415734	70415734	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1583-01A-01W-0615-10	TCGA-57-1583-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7c9bdfcf-e1a6-42d7-92e8-c907d337f6d1	7769758f-22a2-4ebc-a0cf-88847f6525fb	g.chr16:70415734C>T	ENST00000393640.4	-	6	3018	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.R304Q			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	304					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.R304Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCAGTTGCCCCGGCTGTCGGC	0.692																																																1	Substitution - Missense(1)	ovary(1)	16											78	73	74					16																	70415734		2198	4300	6498	68973235	SO:0001583	missense	6483			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"Sialyltransferases"	10863	protein-coding gene	gene with protein product		607188	"sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.911G>A	16.37:g.70415734C>T	ENSP00000377257:p.Arg304Gln		68973235	O00654	Missense_Mutation	SNP	ENST00000393640.4	37	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922309	0.92319	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.30182	1.54;1.54	6.08	6.08	0.98989	.	0.050190	0.85682	D	0.000000	T	0.24699	0.0599	L	0.41236	1.265	0.80722	D	1	P	0.36753	0.568	B	0.15870	0.014	T	0.02829	-1.1105	10	0.27785	T	0.31	-31.0326	20.6721	0.99693	0.0:1.0:0.0:0.0	.	304	Q16842	SIA4B_HUMAN	Q	304	ENSP00000345477:R304Q;ENSP00000377257:R304Q	ENSP00000345477:R304Q	R	-	2	0	ST3GAL2	68973235	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.961000	0.56759	2.894000	0.99253	0.591000	0.81541	CGG		0.692	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		T	70415734	C	T	70415734	3	4	406	1	0	0	0	0	1	0	0	0	15217	652	23	1	145	1	ST3GAL2	16	70415734	Missense_Mutation	SNP	C	TCGA-57-1583-01A-01W-0615-10		70415734	19939019	5	22315											
TP53	7157	hgsc.bcm.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-57-1583-01A-01W-0615-10	TCGA-57-1583-11A-01W-0615-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7c9bdfcf-e1a6-42d7-92e8-c907d337f6d1	7769758f-22a2-4ebc-a0cf-88847f6525fb	g.chr17:7577594_7577595delAC	ENST00000269305.4	-	7	875_876	c.686_687delGT	c.(685-687)tgtfs	p.C229fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs	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	229	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(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)	GGATGGTGGTACAGTCAGAGCC	0.53		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"	52	Deletion - Frameshift(18)|Whole gene deletion(8)|Substitution - Missense(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Substitution - Nonsense(3)|Insertion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	biliary_tract(14)|ovary(9)|breast(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|central_nervous_system(2)|large_intestine(2)|urinary_tract(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|thymus(1)|skin(1)|pancreas(1)|liver(1)	17	GRCh37	CD076915	TP53	D																																				7518320	SO:0001589	frameshift_variant	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.686_687delGT	17.37:g.7577594_7577595delAC	ENSP00000269305:p.Cys229fs		7518319	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.53	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577595	AC	-	7577594	7	5	406	1	0	1	0	1	0	0	0	0	16381	389	14	0	603	0	TP53	17	7577594	Frame_Shift_Del	DEL	AC	TCGA-57-1583-01A-01W-0615-10		7577594	73617616	6	22316											
GPATCH8	23131	hgsc.bcm.edu	37	17	42476174	42476174	+	Missense_Mutation	SNP	T	T	C			TCGA-57-1583-01A-01W-0615-10	TCGA-57-1583-11A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	7c9bdfcf-e1a6-42d7-92e8-c907d337f6d1	7769758f-22a2-4ebc-a0cf-88847f6525fb	g.chr17:42476174T>C	ENST00000591680.1	-	8	3301	c.3271A>G	c.(3271-3273)Aaa>Gaa	p.K1091E	GPATCH8_ENST00000434000.1_Missense_Mutation_p.K1013E	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1091							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K1091E(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGTAGCAGTTTGGCAGTGACA	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											154	122	133					17																	42476174		2203	4300	6503	39831700	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3271A>G	17.37:g.42476174T>C	ENSP00000467556:p.Lys1091Glu		39831700	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570963	0.45798	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.17370	2.28	4.99	4.99	0.66335	.	0.192704	0.45606	D	0.000357	T	0.14527	0.0351	N	0.24115	0.695	0.31136	N	0.707143	B	0.24483	0.104	B	0.27608	0.081	T	0.07888	-1.0749	10	0.66056	D	0.02	-9.3046	14.866	0.70416	0.0:0.0:0.0:1.0	.	1091	Q9UKJ3	GPTC8_HUMAN	E	1091;1013	ENSP00000395016:K1013E	ENSP00000335486:K1091E	K	-	1	0	GPATCH8	39831700	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	4.806000	0.62569	2.103000	0.63969	0.528000	0.53228	AAA		0.517	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		C	42476174	T	C	42476174	3	2	406	1	0	0	0	0	1	0	0	0	6594	1821	63	4	1241	4	GPATCH8	17	42476174	Missense_Mutation	SNP	T	TCGA-57-1583-01A-01W-0615-10	34898580	42476174	38719036	7	22317											
PRPF31	26121	hgsc.bcm.edu	37	19	54631496	54631496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-57-1583-01A-01W-0615-10	TCGA-57-1583-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	7c9bdfcf-e1a6-42d7-92e8-c907d337f6d1	7769758f-22a2-4ebc-a0cf-88847f6525fb	g.chr19:54631496delC	ENST00000321030.4	+	10	1343	c.994delC	c.(994-996)cagfs	p.Q332fs	PRPF31_ENST00000391755.1_Frame_Shift_Del_p.Q326fs|PRPF31_ENST00000419967.1_Frame_Shift_Del_p.Q332fs|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	332	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)	p.Q332fs*6(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGACAAGTGGCAGGAGCCGCC	0.692																																																1	Deletion - Frameshift(1)	ovary(1)	19											22	21	22					19																	54631496		2058	4124	6182	59323308	SO:0001589	frameshift_variant	26121			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.994delC	19.37:g.54631496delC	ENSP00000324122:p.Gln332fs		59323308	Q17RB4|Q8N7F9|Q9H271|Q9Y439	Frame_Shift_Del	DEL	ENST00000321030.4	37	CCDS12879.1																																																																																				0.692	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			-	54631496	C	-	54631496	7	5	406	1	0	1	0	1	0	0	0	0	12569	711	25	0	1028	0	PRPF31	19	54631496	Frame_Shift_Del	DEL	C	TCGA-57-1583-01A-01W-0615-10		54631496	4497487	8	22318											
CAMTA1	23261	hgsc.bcm.edu	37	1	7737695	7737695	+	Missense_Mutation	SNP	T	T	A			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr1:7737695T>A	ENST00000303635.7	+	11	3023	c.2816T>A	c.(2815-2817)tTc>tAc	p.F939Y	CAMTA1_ENST00000439411.2_Missense_Mutation_p.F939Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	939	IPT/TIG.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F939Y(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAAGTTGCCTTCAACAACCAG	0.557			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - Missense(1)	ovary(1)	1											198	176	183					1																	7737695		2203	4300	6503	7660282	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2816T>A	1.37:g.7737695T>A	ENSP00000306522:p.Phe939Tyr		7660282	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	t	7.033	0.560966	0.13498	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738	T;T	0.75821	-0.97;-0.97	5.19	5.19	0.71726	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.122271	0.56097	D	0.000026	T	0.56232	0.1971	N	0.14661	0.345	0.36214	D	0.851535	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.58526	-0.7621	10	0.27785	T	0.31	-20.9059	10.356	0.43964	0.1464:0.0:0.0:0.8536	.	939;939	Q9Y6Y1-2;Q9Y6Y1	.;CMTA1_HUMAN	Y	939;939;26	ENSP00000306522:F939Y;ENSP00000402561:F939Y	ENSP00000306522:F939Y	F	+	2	0	CAMTA1	7660282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.984000	0.56923	1.976000	0.57569	0.454000	0.30748	TTC		0.557	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		A	7737695	T	A	7737695	3	1	407	1	0	0	0	0	1	0	0	0	2613	1783	62	5	2858	5	CAMTA1	1	7737695	Missense_Mutation	SNP	T	TCGA-57-1584-01A-01W-0615-10		7737695	241512926	1	22319											
WDR78	79819	hgsc.bcm.edu	37	1	67292619	67292619	+	Missense_Mutation	SNP	C	C	A	rs373263656		TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr1:67292619C>A	ENST00000371026.3	-	15	2278	c.2223G>T	c.(2221-2223)ttG>ttT	p.L741F	RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Missense_Mutation_p.L454F	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	741					hematopoietic progenitor cell differentiation (GO:0002244)			p.L741F(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GATAAAAACTCAAAGATGGCT	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											136	137	137					1																	67292619		2203	4300	6503	67065207	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2223G>T	1.37:g.67292619C>A	ENSP00000360065:p.Leu741Phe		67065207	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296362	0.23650	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.65732	1.6;-0.17;-0.17	5.16	3.26	0.37387	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.294073	0.33591	N	0.004757	T	0.26521	0.0648	L	0.28694	0.88	0.36534	D	0.870897	B;B	0.24092	0.036;0.097	B;B	0.30105	0.059;0.111	T	0.08932	-1.0698	10	0.39692	T	0.17	-5.4098	2.3514	0.04284	0.1372:0.5129:0.133:0.2169	.	454;741	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	F	741;454;474	ENSP00000360065:L741F;ENSP00000393182:L454F;ENSP00000433682:L474F	ENSP00000360065:L741F	L	-	3	2	WDR78	67065207	0.997000	0.39634	1.000000	0.80357	0.512000	0.34134	0.417000	0.21214	0.538000	0.28769	0.555000	0.69702	TTG		0.393	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		A	67292619	C	A	67292619	3	1	407	1	0	0	0	0	1	0	0	0	17328	825	29	3	335	3	WDR78	1	67292619	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10	59554924	67292619	181958002	2	22320											
KLHL20	27252	hgsc.bcm.edu	37	1	173743507	173743507	+	Silent	SNP	G	G	C			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr1:173743507G>C	ENST00000209884.4	+	9	1495	c.1359G>C	c.(1357-1359)gtG>gtC	p.V453V	KLHL20_ENST00000546011.1_Silent_p.V264V	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	453					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.V453V(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GACTAGGTGTGGCTGTGGCTG	0.502																																					GBM(159;862 2695 6559 23041)											1	Substitution - coding silent(1)	ovary(1)	1											251	219	229					1																	173743507		2203	4300	6503	172010130	SO:0001819	synonymous_variant	27252			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1359G>C	1.37:g.173743507G>C			172010130	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	CCDS1310.1																																																																																				0.502	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		C	173743507	G	C	173743507	2	2	407	1	0	0	0	0	0	0	0	1	8375	1335	47	3		3	KLHL20	1	173743507	Silent	SNP	G	TCGA-57-1584-01A-01W-0615-10	106450888	173743507	75507114	3	22321											
CFHR2	3080	hgsc.bcm.edu	37	1	196918732	196918732	+	Missense_Mutation	SNP	G	G	A	rs144596551		TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr1:196918732G>A	ENST00000367415.5	+	2	306	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H|CFHR2_ENST00000476712.2_Missense_Mutation_p.R69H|CFHR2_ENST00000496448.1_Intron	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.R69H(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTTGGACTCGCATAACGTGC	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											97	87	90					1																	196918732		2203	4300	6503	195185355	SO:0001583	missense	3080			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.206G>A	1.37:g.196918732G>A	ENSP00000356385:p.Arg69His		195185355	Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.733228	0.30684	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64803	-0.12;-0.12	3.15	-6.29	0.02013	Complement control module (2);Sushi/SCR/CCP (2);	1.243780	0.06385	N	0.715952	T	0.63873	0.2548	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.61540	-0.7042	10	0.42905	T	0.14	.	5.3275	0.15915	0.3221:0.4369:0.241:0.0	.	69	P36980	FHR2_HUMAN	H	69	ENSP00000356391:R69H;ENSP00000356385:R69H	ENSP00000356385:R69H	R	+	2	0	CFHR2	195185355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.088000	0.00610	-1.636000	0.01533	-0.357000	0.07601	CGC		0.393	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		A	196918732	G	A	196918732	3	1	407	1	0	0	0	0	1	0	0	0	3285	1087	38	1	212	1	CFHR2	1	196918732	Missense_Mutation	SNP	G	TCGA-57-1584-01A-01W-0615-10	23175225	196918732	52331889	4	22322											
CRB1	23418	hgsc.bcm.edu	37	1	197411330	197411330	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr1:197411330C>G	ENST00000367400.3	+	11	4048	c.3913C>G	c.(3913-3915)Ccg>Gcg	p.P1305A	CRB1_ENST00000544212.1_Missense_Mutation_p.P786A|CRB1_ENST00000367399.2_Missense_Mutation_p.P1193A|CRB1_ENST00000535699.1_Missense_Mutation_p.P1281A|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.P769A|RP11-75C23.1_ENST00000422250.1_RNA	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1305	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		P -> L (in RP12). {ECO:0000269|PubMed:22128245}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1305A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCCTCTGATCCGTGTGTCAA	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											299	282	288					1																	197411330		2203	4300	6503	195677953	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3913C>G	1.37:g.197411330C>G	ENSP00000356370:p.Pro1305Ala		195677953	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552221	0.86127	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000448952	D;D;D;D;D;D	0.99732	-3.88;-3.88;-3.88;-3.88;-3.88;-6.57	5.36	5.36	0.76844	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99778	0.9908	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.946;0.998;0.997;0.999	D	0.97368	0.9974	9	0.62326	D	0.03	.	19.0906	0.93225	0.0:1.0:0.0:0.0	.	769;1281;1193;1305	B7Z5T2;F5H0L2;P82279-3;P82279	.;.;.;CRUM1_HUMAN	A	1281;769;1305;1193;786;11	ENSP00000438786:P1281A;ENSP00000438091:P769A;ENSP00000356370:P1305A;ENSP00000356369:P1193A;ENSP00000444556:P786A;ENSP00000395407:P11A	ENSP00000356369:P1193A	P	+	1	0	CRB1	195677953	1.000000	0.71417	0.037000	0.18230	0.815000	0.46073	7.736000	0.84948	2.513000	0.84729	0.591000	0.81541	CCG		0.488	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		G	197411330	C	G	197411330	3	3	407	1	0	0	0	0	1	0	0	0	3848	855	30	3	3955	3	CRB1	1	197411330	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10	492598	197411330	51839291	5	22323											
ARIH2	10425	hgsc.bcm.edu	37	3	49012255	49012255	+	Silent	SNP	C	C	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr3:49012255C>T	ENST00000356401.4	+	10	1233	c.894C>T	c.(892-894)ccC>ccT	p.P298P	ARIH2_ENST00000449376.1_Silent_p.P298P|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	298					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P298P(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CTCAGTGTCCCAAGTGCAACA	0.502																																																1	Substitution - coding silent(1)	ovary(1)	3											184	159	168					3																	49012255		2203	4300	6503	48987259	SO:0001819	synonymous_variant	10425			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.894C>T	3.37:g.49012255C>T			48987259	Q9HBZ6|Q9UEM9	Silent	SNP	ENST00000356401.4	37	CCDS2780.1																																																																																				0.502	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		T	49012255	C	T	49012255	2	4	407	1	0	0	0	0	0	0	0	1	924	581	21	2		2	ARIH2	3	49012255	Silent	SNP	C	TCGA-57-1584-01A-01W-0615-10		49012255	149010175	6	22324											
PPWD1	23398	hgsc.bcm.edu	37	5	64872833	64872833	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr5:64872833C>G	ENST00000261308.5	+	6	1169	c.1097C>G	c.(1096-1098)aCt>aGt	p.T366S	PPWD1_ENST00000535264.1_Missense_Mutation_p.T336S|PPWD1_ENST00000538977.1_Missense_Mutation_p.T210S	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	366					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.T366S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TTTGATGAAACTGGACACTTC	0.368																																																1	Substitution - Missense(1)	ovary(1)	5											126	135	132					5																	64872833		2203	4300	6503	64908589	SO:0001583	missense	23398			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1097C>G	5.37:g.64872833C>G	ENSP00000261308:p.Thr366Ser		64908589	B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	C	8.147	0.786415	0.16189	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977	T;T;T	0.61980	0.06;0.06;5.11	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	N	0.02391	-0.57	0.80722	D	1	B;B	0.21309	0.054;0.032	B;B	0.26094	0.066;0.03	T	0.42766	-0.9432	10	0.02654	T	1	.	18.8273	0.92123	0.0:1.0:0.0:0.0	.	336;366	F5H7P7;Q96BP3	.;PPWD1_HUMAN	S	366;336;210	ENSP00000261308:T366S;ENSP00000442371:T336S;ENSP00000444496:T210S	ENSP00000261308:T366S	T	+	2	0	PPWD1	64908589	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.463000	0.83235	0.455000	0.32223	ACT		0.368	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		G	64872833	C	G	64872833	3	3	407	1	0	0	0	0	1	0	0	0	12417	565	20	3	1119	3	PPWD1	5	64872833	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10		64872833	116042427	7	22325											
TRIM23	373	hgsc.bcm.edu	37	5	64905203	64905203	+	Missense_Mutation	SNP	T	T	C			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr5:64905203T>C	ENST00000231524.9	-	6	1282	c.911A>G	c.(910-912)gAa>gGa	p.E304G	TRIM23_ENST00000381018.3_Missense_Mutation_p.E304G|TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000274327.7_Missense_Mutation_p.E304G	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	304					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E304G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TAGAGCCATTTCTTCTTGACG	0.388																																																1	Substitution - Missense(1)	ovary(1)	5											110	101	104					5																	64905203		2203	4300	6503	64940959	SO:0001583	missense	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.911A>G	5.37:g.64905203T>C	ENSP00000231524:p.Glu304Gly		64940959	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101537	0.76983	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.74526	-0.79;-0.78;-0.85	5.39	5.39	0.77823	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	L	0.50333	1.59	0.80722	D	1	P;P;P	0.47910	0.816;0.902;0.884	B;B;B	0.40940	0.115;0.269;0.344	T	0.75883	-0.3160	10	0.72032	D	0.01	.	15.7009	0.77541	0.0:0.0:0.0:1.0	.	304;304;304	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	G	304	ENSP00000231524:E304G;ENSP00000370406:E304G;ENSP00000274327:E304G	ENSP00000231524:E304G	E	-	2	0	TRIM23	64940959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.169000	0.68431	0.533000	0.62120	GAA		0.388	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		C	64905203	T	C	64905203	3	2	407	1	0	0	0	0	1	0	0	0	16497	1783	62	4	904	4	TRIM23	5	64905203	Missense_Mutation	SNP	T	TCGA-57-1584-01A-01W-0615-10	32370	64905203	116010057	8	22326											
PIK3R1	5295	hgsc.bcm.edu	37	5	67588086	67588086	+	Splice_Site	SNP	G	G	C			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr5:67588086G>C	ENST00000521381.1	+	8	1532		c.e8-1		PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000523872.1_5'Flank|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.?(2)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTCATCTGCAGCACTGCCTCC	0.343			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	3	Unknown(2)|Whole gene deletion(1)	large_intestine(1)|lung(1)|ovary(1)	5											141	130	134					5																	67588086		2203	4300	6503	67623842	SO:0001630	splice_region_variant	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.917-1G>C	5.37:g.67588086G>C			67623842	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701571	0.68501	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.115	0.93334	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3R1	67623842	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.822000	0.97130	0.563000	0.77884	.		0.343	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Intron	C	67588086	G	C	67588086	5	2	407	1	0	0	0	0	0	0	1	0	11918	985	34	3	1072	3	PIK3R1	5	67588086	Splice_Site	SNP	G	TCGA-57-1584-01A-01W-0615-10	2682883	67588086	113327174	9	22327											
GRIA1	2890	hgsc.bcm.edu	37	5	153190663	153190663	+	Missense_Mutation	SNP	G	G	T	rs139474308		TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr5:153190663G>T	ENST00000285900.5	+	16	2942	c.2599G>T	c.(2599-2601)Gcc>Tcc	p.A867S	GRIA1_ENST00000448073.4_Missense_Mutation_p.A877S|GRIA1_ENST00000521843.2_Missense_Mutation_p.A798S|GRIA1_ENST00000340592.5_Missense_Mutation_p.A867S|GRIA1_ENST00000518783.1_Missense_Mutation_p.A877S|GRIA1_ENST00000518142.1_Missense_Mutation_p.A787S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	867				AGA -> TAP (in Ref. 1; AAA58613). {ECO:0000305}.	ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.A867S(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGGGGCAGGAGCCAGCAGCGG	0.582																																																1	Substitution - Missense(1)	ovary(1)	5											45	49	48					5																	153190663		2203	4300	6503	153170856	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2599G>T	5.37:g.153190663G>T	ENSP00000285900:p.Ala867Ser		153170856	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	4.440	0.081503	0.08533	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.11169	2.85;2.8;2.85;2.8;2.8;2.85;2.85	5.16	3.32	0.38043	.	0.513949	0.21490	N	0.073699	T	0.02083	0.0065	N	0.00268	-1.735	0.40172	D	0.977182	B;B;B;B;B	0.19331	0.0;0.001;0.035;0.0;0.027	B;B;B;B;B	0.15052	0.001;0.001;0.012;0.001;0.005	T	0.40997	-0.9533	10	0.02654	T	1	.	9.9252	0.41487	0.1713:0.0:0.8287:0.0	.	877;877;787;867;867	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	S	867;867;787;867;800;798;877;877	ENSP00000285900:A867S;ENSP00000427920:A787S;ENSP00000339343:A867S;ENSP00000427864:A800S;ENSP00000442108:A798S;ENSP00000428994:A877S;ENSP00000415569:A877S	ENSP00000285900:A867S	A	+	1	0	GRIA1	153170856	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.955000	0.29188	0.516000	0.28340	0.655000	0.94253	GCC		0.582	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			T	153190663	G	T	153190663	3	4	407	1	0	0	0	0	1	0	0	0	6767	971	34	3	2780	3	GRIA1	5	153190663	Missense_Mutation	SNP	G	TCGA-57-1584-01A-01W-0615-10	85602577	153190663	27724597	10	22328											
LAMA2	3908	hgsc.bcm.edu	37	6	129748970	129748970	+	Missense_Mutation	SNP	A	A	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr6:129748970A>T	ENST00000421865.2	+	41	5988	c.5939A>T	c.(5938-5940)gAa>gTa	p.E1980V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1980	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E1980V(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTCTTAACGAAGCCAAGAAG	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											113	111	112					6																	129748970		2203	4300	6503	129790663	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5939A>T	6.37:g.129748970A>T	ENSP00000400365:p.Glu1980Val		129790663	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114594	0.77210	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.24723	1.84	5.92	5.92	0.95590	.	0.163736	0.53938	D	0.000052	T	0.16385	0.0394	M	0.62723	1.935	0.34008	D	0.651115	P;P	0.39665	0.682;0.682	B;B	0.38378	0.272;0.272	T	0.16394	-1.0404	10	0.87932	D	0	.	10.8699	0.46877	0.9273:0.0:0.0727:0.0	.	1980;1980	A6NF00;P24043	.;LAMA2_HUMAN	V	1980	ENSP00000400365:E1980V	ENSP00000346769:E1980V	E	+	2	0	LAMA2	129790663	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.882000	0.48546	2.267000	0.75376	0.477000	0.44152	GAA		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129748970	A	T	129748970	3	4	407	1	0	0	0	0	1	0	0	0	8606	246	9	5	6101	5	LAMA2	6	129748970	Missense_Mutation	SNP	A	TCGA-57-1584-01A-01W-0615-10		129748970	41366097	11	22329											
AKAP12	9590	hgsc.bcm.edu	37	6	151627040	151627040	+	Splice_Site	SNP	T	T	G			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr6:151627040T>G	ENST00000253332.1	+	2	508		c.e2+2		AKAP12_ENST00000402676.2_Splice_Site			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.?(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCACAGAGGGTAAGCCGCCCC	0.527																																					Melanoma(141;1616 1805 10049 24534 51979)											1	Unknown(1)	ovary(1)	6											34	28	30					6																	151627040		2202	4300	6502	151668733	SO:0001630	splice_region_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.319+2T>G	6.37:g.151627040T>G			151668733	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Splice_Site	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	T	9.953	1.220758	0.22457	.	.	ENSG00000131016	ENST00000402676;ENST00000253332	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.613	0.45434	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP12	151668733	1.000000	0.71417	0.999000	0.59377	0.024000	0.10985	1.894000	0.39768	1.835000	0.53391	0.454000	0.30748	.		0.527	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		Intron	G	151627040	T	G	151627040	5	3	407	1	0	0	0	0	0	0	1	0	448	1652	57	5	327	5	AKAP12	6	151627040	Splice_Site	SNP	T	TCGA-57-1584-01A-01W-0615-10	21878070	151627040	19488027	12	22330											
LAMB4	22798	hgsc.bcm.edu	37	7	107748113	107748113	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr7:107748113G>T	ENST00000388781.3	-	6	637	c.554C>A	c.(553-555)tCc>tAc	p.S185Y	LAMB4_ENST00000388780.3_Missense_Mutation_p.S185Y|LAMB4_ENST00000418464.1_Missense_Mutation_p.S185Y|LAMB4_ENST00000414450.2_Missense_Mutation_p.S185Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.S185Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	185	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.S185Y(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CGAGTATTTGGAGTCACAAAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											105	103	104					7																	107748113		2203	4300	6503	107535349	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.554C>A	7.37:g.107748113G>T	ENSP00000373433:p.Ser185Tyr		107535349	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252347	0.59212	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.86	4.96	0.65561	Laminin, N-terminal (3);	0.130434	0.35378	N	0.003258	D	0.89262	0.6665	M	0.75447	2.3	0.52501	D	0.999958	D	0.89917	1.0	D	0.72982	0.979	D	0.90673	0.4599	10	0.87932	D	0	.	16.7991	0.85609	0.0:0.1289:0.8711:0.0	.	185	A4D0S4	LAMB4_HUMAN	Y	185	ENSP00000205386:S185Y;ENSP00000373433:S185Y;ENSP00000373432:S185Y;ENSP00000402353:S185Y;ENSP00000402265:S185Y	ENSP00000205386:S185Y	S	-	2	0	LAMB4	107535349	0.982000	0.34865	0.978000	0.43139	0.656000	0.38851	2.611000	0.46334	1.434000	0.47414	0.655000	0.94253	TCC		0.373	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107748113	G	T	107748113	3	4	407	1	0	0	0	0	1	0	0	0	8613	1174	41	3	4847	3	LAMB4	7	107748113	Missense_Mutation	SNP	G	TCGA-57-1584-01A-01W-0615-10		107748113	51390550	13	22331											
AKR1B1	231	hgsc.bcm.edu	37	7	134135631	134135631	+	Silent	SNP	C	C	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr7:134135631C>T	ENST00000285930.4	-	3	337	c.258G>A	c.(256-258)aaG>aaA	p.K86K	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	86					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.K86K(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	TCACCAGGCCCTTCTCATGGT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	7											89	67	75					7																	134135631		2203	4300	6503	133786171	SO:0001819	synonymous_variant	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.258G>A	7.37:g.134135631C>T			133786171	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Silent	SNP	ENST00000285930.4	37	CCDS5831.1																																																																																				0.562	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		T	134135631	C	T	134135631	2	4	407	1	0	0	0	0	0	0	0	1	466	680	24	2		2	AKR1B1	7	134135631	Silent	SNP	C	TCGA-57-1584-01A-01W-0615-10	26387518	134135631	25003032	14	22332											
TMEM176A	55365	hgsc.bcm.edu	37	7	150500785	150500785	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr7:150500785C>A	ENST00000484928.1	+	5	1001	c.420C>A	c.(418-420)ttC>ttA	p.F140L	TMEM176A_ENST00000004103.3_Missense_Mutation_p.F140L|TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.F81L			Q96HP8	T176A_HUMAN	transmembrane protein 176A	140					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)		p.F140L(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGAAGATTTCCGATATGGCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											76	81	79					7																	150500785		2203	4300	6503	150131718	SO:0001583	missense	55365			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.420C>A	7.37:g.150500785C>A	ENSP00000417626:p.Phe140Leu		150131718	D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	C	5.731	0.319294	0.10845	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.01685	4.69;4.69;4.69;4.69;4.69	3.56	-3.26	0.05064	.	0.800176	0.11357	N	0.572313	T	0.00906	0.0030	N	0.11560	0.145	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.46428	-0.9192	10	0.23891	T	0.37	-16.5997	2.5444	0.04734	0.1412:0.2655:0.4162:0.1771	.	140	Q96HP8	T176A_HUMAN	L	140;140;81;92;81	ENSP00000417626:F140L;ENSP00000004103:F140L;ENSP00000420818:F81L;ENSP00000417834:F92L;ENSP00000420081:F81L	ENSP00000004103:F140L	F	+	3	2	TMEM176A	150131718	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.344000	0.07780	-0.762000	0.04664	-1.325000	0.01285	TTC		0.557	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		A	150500785	C	A	150500785	3	1	407	1	0	0	0	0	1	0	0	0	16092	854	30	3	434	3	TMEM176A	7	150500785	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10	16365154	150500785	8637878	15	22333											
CHRNA6	8973	hgsc.bcm.edu	37	8	42611054	42611054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr8:42611054C>A	ENST00000276410.2	-	5	1643	c.1288G>T	c.(1288-1290)Gaa>Taa	p.E430*	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.E415*	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	430					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.E430*(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	ATCACATCTTCAACTTCAGGC	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	8											236	206	216					8																	42611054		2203	4300	6503	42730211	SO:0001587	stop_gained	8973			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1288G>T	8.37:g.42611054C>A	ENSP00000276410:p.Glu430*		42730211	B2R8V4|B4DQH1	Nonsense_Mutation	SNP	ENST00000276410.2	37	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229428	0.95173	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	.	.	.	5.93	4.95	0.65309	.	0.276047	0.42053	D	0.000768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	3.9365	0.09309	0.0:0.6839:0.0:0.3161	.	.	.	.	X	430;415	.	ENSP00000276410:E430X	E	-	1	0	CHRNA6	42730211	0.537000	0.26386	0.964000	0.40570	0.222000	0.24845	3.299000	0.51826	2.815000	0.96918	0.561000	0.74099	GAA		0.448	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			A	42611054	C	A	42611054	4	1	407	1	0	0	0	0	0	1	0	0	3387	835	29	3	204	3	CHRNA6	8	42611054	Nonsense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10		42611054	103752968	16	22334											
RORB	6096	hgsc.bcm.edu	37	9	77286722	77286722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr9:77286722G>T	ENST00000396204.2	+	9	1162	c.1162G>T	c.(1162-1164)Gaa>Taa	p.E388*	RORB_ENST00000376896.3_Nonsense_Mutation_p.E377*			Q92753	RORB_HUMAN	RAR-related orphan receptor B	388	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E377Q(2)|p.E377*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CTGGCTTATAGAACCAAGGAA	0.428																																																3	Substitution - Missense(2)|Substitution - Nonsense(1)	breast(2)|ovary(1)	9											73	69	70					9																	77286722		2203	4300	6503	76476542	SO:0001587	stop_gained	6096			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1162G>T	9.37:g.77286722G>T	ENSP00000379507:p.Glu388*		76476542	Q8WX73	Nonsense_Mutation	SNP	ENST00000396204.2	37		.	.	.	.	.	.	.	.	.	.	G	38	6.700148	0.97772	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	X	377;388	.	ENSP00000366093:E377X	E	+	1	0	RORB	76476542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	GAA		0.428	RORB-201	KNOWN	basic	protein_coding	protein_coding				T	77286722	G	T	77286722	4	4	407	1	0	0	0	0	0	1	0	0	13532	943	33	3	1163	3	RORB	9	77286722	Nonsense_Mutation	SNP	G	TCGA-57-1584-01A-01W-0615-10		77286722	63926709	17	22335											
CIZ1	25792	hgsc.bcm.edu	37	9	130941075	130941075	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr9:130941075C>T	ENST00000393608.1	-	8	1613	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M	CIZ1_ENST00000372954.1_Missense_Mutation_p.V391M|CIZ1_ENST00000541172.1_Missense_Mutation_p.V370M|CIZ1_ENST00000277465.4_Missense_Mutation_p.V443M|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Missense_Mutation_p.V471M|CIZ1_ENST00000372938.5_Missense_Mutation_p.V471M|CIZ1_ENST00000357558.5_Missense_Mutation_p.V443M|CIZ1_ENST00000325721.8_Missense_Mutation_p.V442M|CIZ1_ENST00000372948.3_Missense_Mutation_p.V415M	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	471					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V471M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGCAACGACACCTGCGGCTGG	0.597																																																1	Substitution - Missense(1)	ovary(1)	9											113	98	103					9																	130941075		2203	4300	6503	129980896	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1411G>A	9.37:g.130941075C>T	ENSP00000377232:p.Val471Met		129980896	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170111	0.38315	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.38077	1.16;1.31;1.27;1.33;1.31;1.73;1.33;1.16;1.31;1.89	4.29	3.39	0.38822	.	0.805612	0.10784	N	0.634536	T	0.45397	0.1340	L	0.42245	1.32	0.09310	N	1	D;D;D;D;D;D;D;D	0.71674	0.997;0.993;0.998;0.989;0.989;0.997;0.998;0.993	P;P;D;P;P;P;P;P	0.64776	0.85;0.656;0.929;0.814;0.87;0.897;0.904;0.836	T	0.19549	-1.0302	10	0.35671	T	0.21	-2.5245	6.4642	0.21973	0.0:0.7906:0.0:0.2094	.	471;410;471;415;391;471;442;443	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	M	391;471;471;443;442;410;370;443;415;471;393	ENSP00000362045:V391M;ENSP00000377232:V471M;ENSP00000439244:V471M;ENSP00000350169:V443M;ENSP00000320374:V442M;ENSP00000445057:V370M;ENSP00000277465:V443M;ENSP00000362039:V415M;ENSP00000362029:V471M;ENSP00000398011:V393M	ENSP00000277465:V443M	V	-	1	0	CIZ1	129980896	0.000000	0.05858	0.267000	0.24556	0.065000	0.16274	0.317000	0.19487	1.395000	0.46643	0.561000	0.74099	GTG		0.597	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		T	130941075	C	T	130941075	3	4	407	1	0	0	0	0	1	0	0	0	3441	507	18	2	1325	2	CIZ1	9	130941075	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10	53654353	130941075	10272356	18	22336											
HIPK3	10114	hgsc.bcm.edu	37	11	33374958	33374958	+	Silent	SNP	C	C	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr11:33374958C>T	ENST00000303296.4	+	17	3797	c.3492C>T	c.(3490-3492)gtC>gtT	p.V1164V	HIPK3_ENST00000525975.1_Silent_p.V1143V|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000456517.1_Silent_p.V1143V|HIPK3_ENST00000379016.3_Silent_p.V1143V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1164					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V1164V(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTCACCAAGTCCCAGTGGGCT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	11											173	148	156					11																	33374958		2202	4298	6500	33331534	SO:0001819	synonymous_variant	10114			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3492C>T	11.37:g.33374958C>T			33331534	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	CCDS7884.1																																																																																				0.488	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		T	33374958	C	T	33374958	2	4	407	1	0	0	0	0	0	0	0	1	7118	842	30	2		2	HIPK3	11	33374958	Silent	SNP	C	TCGA-57-1584-01A-01W-0615-10		33374958	101631558	19	22337											
KBTBD4	55709	hgsc.bcm.edu	37	11	47594667	47594667	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr11:47594667C>G	ENST00000526005.1	-	4	1525	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	KBTBD4_ENST00000533290.1_Missense_Mutation_p.E483Q|KBTBD4_ENST00000430070.2_Missense_Mutation_p.E474Q|KBTBD4_ENST00000395288.2_Missense_Mutation_p.E458Q|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	458								p.E458Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CTCCAGGCCTCAGGAAGGCAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	11											54	53	53					11																	47594667		2201	4298	6499	47551243	SO:0001583	missense	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1372G>C	11.37:g.47594667C>G	ENSP00000433340:p.Glu458Gln		47551243	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612974	0.66672	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.95	5.95	0.96441	Kelch-type beta propeller (1);	0.047454	0.85682	D	0.000000	T	0.57286	0.2043	N	0.19112	0.55	0.80722	D	1	P;B;B	0.39480	0.675;0.321;0.361	B;B;B	0.37888	0.26;0.133;0.1	T	0.62086	-0.6928	10	0.66056	D	0.02	-23.6497	20.3748	0.98911	0.0:1.0:0.0:0.0	.	474;458;483	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	Q	458;483;458;474	ENSP00000433340:E458Q;ENSP00000436713:E483Q;ENSP00000378703:E458Q;ENSP00000415106:E474Q	ENSP00000378703:E458Q	E	-	1	0	KBTBD4	47551243	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.487000	0.81328	2.817000	0.96982	0.563000	0.77884	GAG		0.552	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		G	47594667	C	G	47594667	3	3	407	1	0	0	0	0	1	0	0	0	7995	835	29	3	188	3	KBTBD4	11	47594667	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10	14219709	47594667	87411849	20	22338											
AHNAK	79026	hgsc.bcm.edu	37	11	62298437	62298437	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr11:62298437G>C	ENST00000378024.4	-	5	3726	c.3452C>G	c.(3451-3453)cCt>cGt	p.P1151R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1151					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P1151R(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCAGCCTTAGGCAAGTTCAC	0.542																																																1	Substitution - Missense(1)	ovary(1)	11											158	153	155					11																	62298437		2202	4299	6501	62055013	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3452C>G	11.37:g.62298437G>C	ENSP00000367263:p.Pro1151Arg		62055013	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	9.720	1.159394	0.21454	.	.	ENSG00000124942	ENST00000378024	T	0.05717	3.4	4.88	3.97	0.46021	.	0.403463	0.18250	N	0.146973	T	0.36276	0.0961	H	0.97340	3.985	0.29346	N	0.865702	D	0.58970	0.984	D	0.63033	0.91	T	0.54583	-0.8272	10	0.72032	D	0.01	-7.5358	13.4047	0.60906	0.0:0.1577:0.8423:0.0	.	1151	Q09666	AHNK_HUMAN	R	1151	ENSP00000367263:P1151R	ENSP00000367263:P1151R	P	-	2	0	AHNAK	62055013	1.000000	0.71417	0.136000	0.22124	0.010000	0.07245	6.851000	0.75425	1.075000	0.40932	-0.132000	0.14878	CCT		0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62298437	G	C	62298437	3	2	407	1	0	0	0	0	1	0	0	0	414	1000	35	3	14340	3	AHNAK	11	62298437	Missense_Mutation	SNP	G	TCGA-57-1584-01A-01W-0615-10	14703770	62298437	72708079	21	22339											
KCNA6	3742	hgsc.bcm.edu	37	12	4920006	4920006	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr12:4920006G>C	ENST00000280684.3	+	1	1665	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	KCNA6_ENST00000433855.1_Missense_Mutation_p.E267Q|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	267					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.E267Q(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTTTCTGGTGGAGACGCTGTG	0.552										HNSCC(72;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											86	87	86					12																	4920006		2203	4300	6503	4790267	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.799G>C	12.37:g.4920006G>C	ENSP00000280684:p.Glu267Gln		4790267		Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411417	0.83340	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97976	-4.64;-4.64	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98936	1.0789	10	0.87932	D	0	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	267	P17658	KCNA6_HUMAN	Q	267	ENSP00000408321:E267Q;ENSP00000280684:E267Q	ENSP00000280684:E267Q	E	+	1	0	KCNA6	4790267	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.580000	0.98207	2.688000	0.91661	0.655000	0.94253	GAG		0.552	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		C	4920006	G	C	4920006	3	2	407	1	0	0	0	0	1	0	0	0	8007	1175	41	3	801	3	KCNA6	12	4920006	Missense_Mutation	SNP	G	TCGA-57-1584-01A-01W-0615-10		4920006	128931889	22	22340											
LEMD3	23592	hgsc.bcm.edu	37	12	65564257	65564258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr12:65564257_65564258insC	ENST00000308330.2	+	1	907_908	c.881_882insC	c.(880-885)ctccccfs	p.LP294fs	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	294					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.L297fs*4(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGTAAGCCTCTCCCCCCGCTGA	0.629																																																1	Insertion - Frameshift(1)	ovary(1)	12																																								63850525	SO:0001589	frameshift_variant	23592			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.887dupC	12.37:g.65564263_65564263dupC	ENSP00000308369:p.Leu294fs		63850524	Q9NT47|Q9NYA5	Frame_Shift_Ins	INS	ENST00000308330.2	37	CCDS8972.1																																																																																				0.629	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			C	65564258	-	C	65564257	7	5	407	1	0	1	1	0	0	0	0	0	8721	1551	54	0	883	0	LEMD3	12	65564257	Frame_Shift_Ins	INS	-	TCGA-57-1584-01A-01W-0615-10	60644251	65564257	68287638	23	22341											
ACADVL	37	hgsc.bcm.edu	37	17	7127350	7127350	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr17:7127350G>A	ENST00000356839.5	+	14	1575	c.1396G>A	c.(1396-1398)Gac>Aac	p.D466N	ACADVL_ENST00000543245.2_Missense_Mutation_p.D489N|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Missense_Mutation_p.D444N	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	466	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.D466N(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGGGACAAATGACATTCTTCG	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											94	87	89					17																	7127350		2203	4300	6503	7068074	SO:0001583	missense	37			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1396G>A	17.37:g.7127350G>A	ENSP00000349297:p.Asp466Asn		7068074	B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097862	0.37048	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.95788	-3.81;-3.81	5.74	5.74	0.90152	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	0.994;0.994;1.0	D;D;D	0.79784	0.967;0.976;0.993	D	0.96807	0.9594	10	0.87932	D	0	.	15.4119	0.74933	0.0:0.0:1.0:0.0	.	489;444;466	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	N	489;512;444;466;512	ENSP00000438689:D489N;ENSP00000344152:D444N	ENSP00000325395:D466N	D	+	1	0	ACADVL	7068074	1.000000	0.71417	0.988000	0.46212	0.335000	0.28730	8.460000	0.90369	2.719000	0.93026	0.655000	0.94253	GAC		0.542	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		A	7127350	G	A	7127350	3	1	407	1	0	0	0	0	1	0	0	0	116	1290	45	2	1450	2	ACADVL	17	7127350	Missense_Mutation	SNP	G	TCGA-57-1584-01A-01W-0615-10		7127350	74067860	24	22342											
TP53	7157	hgsc.bcm.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr		7519128	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578403	C	T	7578403	3	4	407	1	0	0	0	0	1	0	0	0	16381	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10	451053	7578403	73616807	25	22343											
DBF4B	80174	hgsc.bcm.edu	37	17	42818777	42818777	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr17:42818777C>G	ENST00000315005.3	+	10	925	c.787C>G	c.(787-789)Ccc>Gcc	p.P263A	DBF4B_ENST00000398338.3_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.P263A	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	263					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.P263A(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				AGATGCAAGTCCCTTTGAGGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	17											103	97	99					17																	42818777		2203	4300	6503	40174303	SO:0001583	missense	80174			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.787C>G	17.37:g.42818777C>G	ENSP00000323663:p.Pro263Ala		40174303	D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592380	0.66219	.	.	ENSG00000161692	ENST00000393547;ENST00000315005	T;T	0.13901	2.55;2.55	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	T	0.39200	0.1069	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.15235	-1.0444	10	0.62326	D	0.03	-21.5851	14.8798	0.70522	0.0:1.0:0.0:0.0	.	263;263;77	Q8NFT6-2;Q8NFT6;Q8NFT6-3	.;DBF4B_HUMAN;.	A	263	ENSP00000377178:P263A;ENSP00000323663:P263A	ENSP00000323663:P263A	P	+	1	0	DBF4B	40174303	0.998000	0.40836	0.984000	0.44739	0.640000	0.38277	3.695000	0.54749	2.572000	0.86782	0.655000	0.94253	CCC		0.493	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		G	42818777	C	G	42818777	3	3	407	1	0	0	0	0	1	0	0	0	4249	855	30	3	870	3	DBF4B	17	42818777	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10	35240374	42818777	38376433	26	22344											
GGA3	23163	hgsc.bcm.edu	37	17	73236436	73236436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr17:73236436C>T	ENST00000245541.6	-	12	1466	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*	GGA3_ENST00000578348.1_Nonsense_Mutation_p.W295*|GGA3_ENST00000582486.1_Nonsense_Mutation_p.W345*|GGA3_ENST00000538886.1_Nonsense_Mutation_p.W295*|GGA3_ENST00000351904.7_Nonsense_Mutation_p.W384*|GGA3_ENST00000582717.1_Nonsense_Mutation_p.W345*	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	417	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.W417*(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GAGCAGGTGCCACTGGCTGTT	0.572																																																1	Substitution - Nonsense(1)	ovary(1)	17											45	39	41					17																	73236436		2202	4300	6502	70748031	SO:0001587	stop_gained	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1250G>A	17.37:g.73236436C>T	ENSP00000245541:p.Trp417*		70748031	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Nonsense_Mutation	SNP	ENST00000245541.6	37	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	40	7.917952	0.98560	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-28.2999	17.2923	0.87160	0.0:1.0:0.0:0.0	.	.	.	.	X	417;384;345;295	.	ENSP00000245541:W417X	W	-	2	0	GGA3	70748031	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.741000	0.55090	2.422000	0.82143	0.655000	0.94253	TGG		0.572	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		T	73236436	C	T	73236436	4	4	407	1	0	0	0	0	0	1	0	0	6354	595	21	2	1033	2	GGA3	17	73236436	Nonsense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10	30417659	73236436	7958774	27	22345											
ZNF615	284370	hgsc.bcm.edu	37	19	52496212	52496212	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr19:52496212C>T	ENST00000602063.1	-	6	2466	c.2117G>A	c.(2116-2118)aGg>aAg	p.R706K	ZNF615_ENST00000594083.1_Missense_Mutation_p.R717K|ZNF615_ENST00000376716.5_Missense_Mutation_p.R706K|ZNF615_ENST00000391795.3_Missense_Mutation_p.R711K|ZNF615_ENST00000598071.1_Missense_Mutation_p.R717K			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	706					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.R717K(1)|p.R706K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCCATAGGGCCTCTCTCCTGT	0.438																																																2	Substitution - Missense(2)	ovary(2)	19											169	169	169					19																	52496212		2203	4300	6503	57188024	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2117G>A	19.37:g.52496212C>T	ENSP00000473089:p.Arg706Lys		57188024	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	3.626	-0.076512	0.07184	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.12361	2.69;2.69	3.21	1.05	0.20165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.00754	-1.215	0.23468	N	0.997618	B;B;B;B	0.11235	0.004;0.003;0.003;0.004	B;B;B;B	0.12837	0.008;0.007;0.007;0.008	T	0.45056	-0.9287	9	0.02654	T	1	.	4.5302	0.12001	0.0:0.4996:0.0:0.5004	.	711;713;717;706	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	K	706;716;711;660	ENSP00000365906:R706K;ENSP00000375672:R711K	ENSP00000347019:R716K	R	-	2	0	ZNF615	57188024	0.000000	0.05858	0.367000	0.25926	0.990000	0.78478	-1.036000	0.03560	0.670000	0.31165	0.655000	0.94253	AGG		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		T	52496212	C	T	52496212	3	4	407	1	0	0	0	0	1	0	0	0	18040	681	24	2	82	2	ZNF615	19	52496212	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10		52496212	6632771	28	22346											
COX4I2	84701	hgsc.bcm.edu	37	20	30226830	30226830	+	Silent	SNP	A	A	C			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr20:30226830A>C	ENST00000376075.3	+	2	85	c.10A>C	c.(10-12)Aga>Cga	p.R4R	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	4					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)	p.R4R(1)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GATGCTCCCCAGAGCTGCCTG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	20											87	71	76					20																	30226830		2203	4300	6503	29690491	SO:0001819	synonymous_variant	84701			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"Mitochondrial respiratory chain complex / Complex IV"	16232	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit IV-like 2"	607976	"cytochrome c oxidase subunit IV isoform 2"	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.10A>C	20.37:g.30226830A>C			29690491	Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	CCDS13187.1																																																																																				0.592	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		C	30226830	A	C	30226830	2	2	407	1	0	0	0	0	0	0	0	1	3770	180	7	5		5	COX4I2	20	30226830	Silent	SNP	A	TCGA-57-1584-01A-01W-0615-10		30226830	32798690	29	22347											
ARFGAP1	55738	hgsc.bcm.edu	37	20	61907471	61907471	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chr20:61907471C>G	ENST00000370283.4	+	3	229	c.89C>G	c.(88-90)cCt>cGt	p.P30R	ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.P30R|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.P30R	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	30	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)	p.P30R(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GCGTTCAATCCTCAGTGGGTC	0.612																																																1	Substitution - Missense(1)	ovary(1)	20											150	137	141					20																	61907471		2203	4300	6503	61377916	SO:0001583	missense	55738			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.89C>G	20.37:g.61907471C>G	ENSP00000359306:p.Pro30Arg		61377916	B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447626	0.84101	.	.	ENSG00000101199	ENST00000370283;ENST00000523114;ENST00000370275;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.90789	0.7108	H	0.99825	4.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95443	0.8527	10	0.87932	D	0	0.3405	17.9471	0.89042	0.0:1.0:0.0:0.0	.	30;30;30	B7ZBI2;Q8N6T3;Q8N6T3-2	.;ARFG1_HUMAN;.	R	30	ENSP00000359306:P30R;ENSP00000428355:P30R;ENSP00000359298:P30R;ENSP00000314615:P30R;ENSP00000430929:P30R;ENSP00000449515:P30R	ENSP00000314615:P30R	P	+	2	0	ARFGAP1	61377916	1.000000	0.71417	0.968000	0.41197	0.945000	0.59286	7.555000	0.82223	2.310000	0.77875	0.462000	0.41574	CCT		0.612	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		G	61907471	C	G	61907471	3	3	407	1	0	0	0	0	1	0	0	0	849	681	24	3	95	3	ARFGAP1	20	61907471	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10	31680641	61907471	1118049	30	22348											
GABRQ	55879	hgsc.bcm.edu	37	X	151815600	151815600	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1584-01A-01W-0615-10	TCGA-57-1584-11A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	aa562e49-057d-49e6-865e-5e76ab6dcc5c	93a2a97e-3662-46f6-8396-e6e88da1c272	g.chrX:151815600C>G	ENST00000370306.2	+	4	518	c.498C>G	c.(496-498)caC>caG	p.H166Q		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	166					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.H166Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCAGCTTCACCCAGATGGAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											208	146	167					X																	151815600		2203	4300	6503	151566256	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.498C>G	X.37:g.151815600C>G	ENSP00000359329:p.His166Gln		151566256	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	6.663	0.490933	0.12702	.	.	ENSG00000147402	ENST00000370306	T	0.79033	-1.23	5.19	-0.868	0.10652	Neurotransmitter-gated ion-channel ligand-binding (3);	0.155258	0.30639	N	0.009196	T	0.63367	0.2505	L	0.35723	1.085	0.30526	N	0.76796	B	0.27166	0.17	B	0.30716	0.119	T	0.55724	-0.8096	10	0.42905	T	0.14	.	6.136	0.20233	0.0:0.3638:0.4188:0.2174	.	166	Q9UN88	GBRT_HUMAN	Q	166	ENSP00000359329:H166Q	ENSP00000359329:H166Q	H	+	3	2	GABRQ	151566256	0.311000	0.24536	0.928000	0.36995	0.137000	0.21094	-0.330000	0.07925	-0.174000	0.10743	0.544000	0.68410	CAC		0.522	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		G	151815600	C	G	151815600	3	3	407	1	0	0	0	0	1	0	0	0	6175	506	18	3	512	3	GABRQ	23	151815600	Missense_Mutation	SNP	C	TCGA-57-1584-01A-01W-0615-10		151815600	3454960	31	22349											
COL5A2	1290	genome.wustl.edu	37	2	189901351	189901351	+	Silent	SNP	T	T	C			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr2:189901351T>C	ENST00000374866.3	-	52	4378	c.4104A>G	c.(4102-4104)agA>agG	p.R1368R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1368	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGAGACCCTCTGTTCATAT	0.318																																																0			2											72	66	68					2																	189901351		2203	4300	6503	189609596	SO:0001819	synonymous_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4104A>G	2.37:g.189901351T>C			189609596	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	CCDS33350.1																																																																																				0.318	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		C	189901351	T	C	189901351	2	2	408	1	0	0	0	0	0	0	0	1	3697	1548	54	4		4	COL5A2	2	189901351	Silent	SNP	T	TCGA-57-1586-01A-02W-0633-09		189901351	53298022	1	22350											
CPNE9	151835	genome.wustl.edu	37	3	9767736	9767736	+	Splice_Site	SNP	G	G	A			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr3:9767736G>A	ENST00000383832.3	+	18	1534		c.e18+1		CPNE9_ENST00000383831.3_Splice_Site	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CATCGTCAGCGTGAGTCTGAG	0.512																																																0			3											85	95	91					3																	9767736		2202	4300	6502	9742736	SO:0001630	splice_region_variant	151835				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1344+1G>A	3.37:g.9767736G>A			9742736	A1L430|A6NDX6|A8MSP8	Splice_Site	SNP	ENST00000383832.3	37	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737013	0.69304	.	.	ENSG00000144550	ENST00000383832;ENST00000383831;ENST00000273027	.	.	.	5.41	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3655	0.74519	0.0:0.0:0.8591:0.1409	.	.	.	.	.	-1	.	.	.	+	.	.	CPNE9	9742736	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.595000	0.82710	1.286000	0.44565	-0.196000	0.12772	.		0.512	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755	Intron	A	9767736	G	A	9767736	5	1	408	1	0	0	0	0	0	0	1	0	3819	1159	40	1	1411	1	CPNE9	3	9767736	Splice_Site	SNP	G	TCGA-57-1586-01A-02W-0633-09		9767736	188254694	2	22351											
LAMB2	3913	genome.wustl.edu	37	3	49168829	49168829	+	Missense_Mutation	SNP	T	T	C			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr3:49168829T>C	ENST00000418109.1	-	7	859	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	LAMB2_ENST00000305544.4_Missense_Mutation_p.Y232C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	232	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGTGAGCTGTAGGGGTCTGG	0.552																																																0			3											95	88	90					3																	49168829		2203	4300	6503	49143833	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.695A>G	3.37:g.49168829T>C	ENSP00000388325:p.Tyr232Cys		49143833	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	t	19.05	3.752499	0.69533	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.61040	1.07;1.07;0.14	4.88	4.88	0.63580	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.82375	0.5023	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87443	0.2396	10	0.62326	D	0.03	.	14.3226	0.66496	0.0:0.0:0.0:1.0	.	232	P55268	LAMB2_HUMAN	C	232;232;83	ENSP00000388325:Y232C;ENSP00000307156:Y232C;ENSP00000444751:Y83C	ENSP00000307156:Y232C	Y	-	2	0	LAMB2	49143833	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.125000	0.71627	2.055000	0.61198	0.529000	0.55759	TAC		0.552	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		C	49168829	T	C	49168829	3	2	408	1	0	0	0	0	1	0	0	0	8611	1638	57	4	4809	4	LAMB2	3	49168829	Missense_Mutation	SNP	T	TCGA-57-1586-01A-02W-0633-09	39401093	49168829	148853601	3	22352											
C7orf36	57002	genome.wustl.edu	37	7	39606022	39606022	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr7:39606022C>G	ENST00000223273.2	+	1	48	c.5C>G	c.(4-6)tCg>tGg	p.S2W	AC011290.4_ENST00000439751.2_RNA|YAE1D1_ENST00000448268.1_Missense_Mutation_p.S2W|YAE1D1_ENST00000432096.2_Missense_Mutation_p.S2W	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	2																	TCGGTGATGTCGTGGGTTCAA	0.642																																																0			7											83	72	76					7																	39606022		2203	4300	6503	39572547	SO:0001583	missense	57002			AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 36"	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.5C>G	7.37:g.39606022C>G	ENSP00000223273:p.Ser2Trp		39572547	A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258462	0.80246	.	.	ENSG00000241127	ENST00000223273;ENST00000448268;ENST00000432096	T;T;T	0.60797	0.16;0.51;0.33	5.65	5.65	0.86999	.	0.063903	0.64402	D	0.000004	T	0.75339	0.3836	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77140	-0.2697	10	0.87932	D	0	-11.2996	17.5154	0.87771	0.0:1.0:0.0:0.0	.	2	Q9NRH1	CG036_HUMAN	W	2	ENSP00000223273:S2W;ENSP00000400511:S2W;ENSP00000395777:S2W	ENSP00000223273:S2W	S	+	2	0	C7orf36	39572547	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.925000	0.63425	2.646000	0.89796	0.655000	0.94253	TCG		0.642	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		G	39606022	C	G	39606022	3	3	408	1	0	0	0	0	1	0	0	0	2390	893	31	3	7	3	C7orf36	7	39606022	Missense_Mutation	SNP	C	TCGA-57-1586-01A-02W-0633-09		39606022	119532641	4	22353											
GOLGA1	2800	genome.wustl.edu	37	9	127651513	127651513	+	Missense_Mutation	SNP	G	G	A	rs142814558		TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr9:127651513G>A	ENST00000373555.4	-	18	2003	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	557					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGCCTCCTCCGCCTTGAGGGT	0.657													G|||	1	0.000199681	0	0	5008	,	,		19114	0		0	False		,,,				2504	0.001															0			9						G	VAL/ALA	0,4406		0,0,2203	42	40	41		1670	1	0	9	dbSNP_134	41	3,8597	2.2+/-6.3	0,3,4297	no	missense	GOLGA1	NM_002077.3	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	557/768	127651513	3,13003	2203	4300	6503	126691334	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1670C>T	9.37:g.127651513G>A	ENSP00000362656:p.Ala557Val		126691334	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517117	0.27123	0.0	3.49E-4	ENSG00000136935	ENST00000373555	T	0.24538	1.85	5.22	1.05	0.20165	.	0.800351	0.10325	N	0.688277	T	0.16938	0.0407	L	0.33485	1.01	0.09310	N	1	B	0.17268	0.021	B	0.13407	0.009	T	0.27706	-1.0066	10	0.32370	T	0.25	1.4528	5.3824	0.16199	0.2445:0.2757:0.4797:0.0	.	557	Q92805	GOGA1_HUMAN	V	557	ENSP00000362656:A557V	ENSP00000362656:A557V	A	-	2	0	GOLGA1	126691334	0.914000	0.31030	0.002000	0.10522	0.005000	0.04900	2.982000	0.49337	0.298000	0.22638	-0.717000	0.03617	GCG		0.657	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		A	127651513	G	A	127651513	3	1	408	1	0	0	0	0	1	0	0	0	6551	1087	38	1	657	1	GOLGA1	9	127651513	Missense_Mutation	SNP	G	TCGA-57-1586-01A-02W-0633-09		127651513	13561918	5	22354											
FRMPD2	143162	genome.wustl.edu	37	10	49430388	49430388	+	Missense_Mutation	SNP	A	A	C			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr10:49430388A>C	ENST00000374201.3	-	12	1725	c.1423T>G	c.(1423-1425)Ttg>Gtg	p.L475V	FRMPD2_ENST00000305531.3_Missense_Mutation_p.L451V|FRMPD2_ENST00000407470.4_Missense_Mutation_p.L444V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	475	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCAGCCTGCAAGGCAAGGACC	0.532																																																0			10											149	138	142					10																	49430388		2203	4300	6503	49100394	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1423T>G	10.37:g.49430388A>C	ENSP00000363317:p.Leu475Val		49100394	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562780	0.45694	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.80033	-1.33;-1.33;-1.33	5.24	-1.55	0.08558	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.81870	0.4914	L	0.39898	1.24	0.37307	D	0.908979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.996	T	0.77321	-0.2631	9	0.26408	T	0.33	.	11.051	0.47889	0.444:0.0:0.556:0.0	.	451;475;444	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	V	475;451;444	ENSP00000363317:L475V;ENSP00000307079:L451V;ENSP00000384339:L444V	ENSP00000307079:L451V	L	-	1	2	FRMPD2	49100394	0.893000	0.30496	0.859000	0.33776	0.280000	0.26924	0.512000	0.22755	-0.546000	0.06216	-0.388000	0.06559	TTG		0.532	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		C	49430388	A	C	49430388	3	2	408	1	0	0	0	0	1	0	0	0	6058	69	3	5	2578	5	FRMPD2	10	49430388	Missense_Mutation	SNP	A	TCGA-57-1586-01A-02W-0633-09		49430388	86104359	6	22355											
ROBO4	54538	genome.wustl.edu	37	11	124756990	124756990	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr11:124756990G>T	ENST00000306534.3	-	15	2803	c.2318C>A	c.(2317-2319)gCt>gAt	p.A773D	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.A628D	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	773	Pro/Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCGACTGGAAGCTGGGCTGGG	0.652																																																0			11											33	36	35					11																	124756990		2201	4299	6500	124262200	SO:0001583	missense	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2318C>A	11.37:g.124756990G>T	ENSP00000304945:p.Ala773Asp		124262200	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	g	14.62	2.590972	0.46214	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64991	-0.13;0.25	4.61	1.54	0.23209	.	45.921700	0.00166	N	0.000014	T	0.57577	0.2063	L	0.44542	1.39	0.09310	N	1	B;B;B	0.29646	0.253;0.16;0.099	B;B;B	0.28232	0.06;0.087;0.04	T	0.46638	-0.9177	10	0.59425	D	0.04	.	8.7539	0.34635	0.0:0.3097:0.5301:0.1602	.	773;663;773	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	D	773;663;628	ENSP00000304945:A773D;ENSP00000437129:A628D	ENSP00000304945:A773D	A	-	2	0	ROBO4	124262200	0.002000	0.14202	0.185000	0.23176	0.994000	0.84299	1.021000	0.30040	0.033000	0.15463	0.552000	0.68991	GCT		0.652	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		T	124756990	G	T	124756990	3	4	408	1	0	0	0	0	1	0	0	0	13519	971	34	3	721	3	ROBO4	11	124756990	Missense_Mutation	SNP	G	TCGA-57-1586-01A-02W-0633-09		124756990	10249526	7	22356											
OR4L1	122742	genome.wustl.edu	37	14	20528941	20528941	+	Silent	SNP	G	G	T			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr14:20528941G>T	ENST00000315683.1	+	1	738	c.738G>T	c.(736-738)gtG>gtT	p.V246V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ACATCATTGTGGTCACTCTGT	0.408																																																0			14											164	148	153					14																	20528941		2203	4300	6503	19598781	SO:0001819	synonymous_variant	122742				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.738G>T	14.37:g.20528941G>T			19598781	Q6IEZ5	Silent	SNP	ENST00000315683.1	37	CCDS32029.1																																																																																				0.408	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			T	20528941	G	T	20528941	2	4	408	1	0	0	0	0	0	0	0	1	11074	1335	47	3		3	OR4L1	14	20528941	Silent	SNP	G	TCGA-57-1586-01A-02W-0633-09		20528941	86820599	8	22357											
RDH8	50700	genome.wustl.edu	37	19	10129569	10129569	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr19:10129569G>T	ENST00000171214.1	+	3	674	c.425G>T	c.(424-426)aGt>aTt	p.S142I	RDH8_ENST00000591589.1_Missense_Mutation_p.S162I	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	142					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGATCAGCAGTGTCATGGGC	0.562																																																0			19											72	71	71					19																	10129569		2203	4300	6503	9990569	SO:0001583	missense	50700			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.425G>T	19.37:g.10129569G>T	ENSP00000171214:p.Ser142Ile		9990569	Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.167591	0.78339	.	.	ENSG00000080511	ENST00000171214	D	0.96802	-4.13	5.34	5.34	0.76211	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99474	1.0946	10	0.87932	D	0	.	16.5222	0.84320	0.0:0.0:1.0:0.0	.	142	Q9NYR8	RDH8_HUMAN	I	142	ENSP00000171214:S142I	ENSP00000171214:S142I	S	+	2	0	RDH8	9990569	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	9.422000	0.97458	2.492000	0.84095	0.491000	0.48974	AGT		0.562	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	10129569	G	T	10129569	3	4	408	1	0	0	0	0	1	0	0	0	13199	1029	36	3	435	3	RDH8	19	10129569	Missense_Mutation	SNP	G	TCGA-57-1586-01A-02W-0633-09		10129569	48999414	9	22358											
NUP62	23636	genome.wustl.edu	37	19	50412217	50412217	+	Missense_Mutation	SNP	C	C	G	rs1062798	byFrequency	TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr19:50412217C>G	ENST00000596217.1	-	2	2735	c.848G>C	c.(847-849)aGc>aCc	p.S283T	NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.S283T|NUP62_ENST00000422090.2_Missense_Mutation_p.S283T|NUP62_ENST00000352066.3_Missense_Mutation_p.S283T|NUP62_ENST00000597029.1_Missense_Mutation_p.S283T|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	283	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.		S -> T (in dbSNP:rs1062798). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:1915414}.		carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		gctgctgctgctggtggtggt	0.627													C|||	1584	0.316294	0.2383	0.379	5008	,	,		15105	0.3938		0.3827	False		,,,				2504	0.229															0			19						C	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	997,3405		118,761,1322	31	29	30		848,848,848,848,848,	0.8	0	19	dbSNP_86	30	3113,5481		577,1959,1761	yes	missense,missense,missense,missense,missense,intron	NUP62,IL4I1	NM_001193357.1,NM_012346.4,NM_016553.4,NM_153718.3,NM_153719.3,NM_172374.1	58,58,58,58,58,	695,2720,3083	GG,GC,CC		36.2229,22.6488,31.6251	benign,benign,benign,benign,benign,	283/523,283/523,283/523,283/523,283/523,	50412217	4110,8886	2201	4297	6498	55104029	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.848G>C	19.37:g.50412217C>G	ENSP00000471191:p.Ser283Thr		55104029	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	CCDS12788.1	763	0.34935897435897434	103	0.20934959349593496	134	0.3701657458563536	230	0.4020979020979021	296	0.39050131926121373	C	0.016	-1.533751	0.00951	0.226488	0.362229	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.36157	1.27;1.27;1.27	4.24	0.801	0.18679	Nucleoporin, NSP1-like, C-terminal (1);	1.330530	0.05670	N	0.588508	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45366	-0.9266	8	.	.	.	-2.1099	13.4683	0.61268	0.0:0.2452:0.7548:0.0	rs1062798;rs3203778;rs3745497;rs4009638;rs5828420;rs17844993;rs17857752;rs52814004	283	P37198	NUP62_HUMAN	T	283	ENSP00000305503:S283T;ENSP00000407331:S283T;ENSP00000387991:S283T	.	S	-	2	0	NUP62	55104029	0.050000	0.20438	0.000000	0.03702	0.004000	0.04260	1.221000	0.32503	0.190000	0.20209	-1.162000	0.01777	AGC		0.627	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		G	50412217	C	G	50412217	3	3	408	1	0	0	0	0	1	0	0	0	10768	797	28	3	724	3	NUP62	19	50412217	Missense_Mutation	SNP	C	TCGA-57-1586-01A-02W-0633-09	40282648	50412217	8716766	10	22359											
RPN2	6185	genome.wustl.edu	37	20	35858445	35858445	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr20:35858445C>A	ENST00000237530.6	+	13	1875	c.1564C>A	c.(1564-1566)Cca>Aca	p.P522T	RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000373622.5_Missense_Mutation_p.P490T	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	522					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CCTTTTCACTCCAAAACAGGA	0.478																																																0			20											112	109	110					20																	35858445		2203	4300	6503	35291859	SO:0001583	missense	6185			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1564C>A	20.37:g.35858445C>A	ENSP00000237530:p.Pro522Thr		35291859	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	CCDS13291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.91|19.91	3.915431|3.915431	0.73098|0.73098	.|.	.|.	ENSG00000118705|ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000373623;ENST00000437329|ENST00000456400	T;T;T|.	0.73897|.	-0.79;-0.79;-0.79|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72755|0.72755	0.3500|0.3500	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	P;B|.	0.47677|.	0.899;0.181|.	P;B|.	0.54210|.	0.745;0.36|.	T|T	0.69083|0.69083	-0.5239|-0.5239	10|5	0.27082|.	T|.	0.32|.	-17.7359|-17.7359	17.2626|17.2626	0.87075|0.87075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	490;522|.	Q5JYR6;P04844|.	.;RPN2_HUMAN|.	T|Y	522;490;61;46;61|46	ENSP00000237530:P522T;ENSP00000362724:P490T;ENSP00000409580:P61T|.	ENSP00000237530:P522T|.	P|S	+|+	1|2	0|0	RPN2|RPN2	35291859|35291859	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.947000|0.947000	0.59692|0.59692	4.305000|4.305000	0.59110|0.59110	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.478	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		A	35858445	C	A	35858445	3	1	408	1	0	0	0	0	1	0	0	0	13611	855	30	3	1614	3	RPN2	20	35858445	Missense_Mutation	SNP	C	TCGA-57-1586-01A-02W-0633-09		35858445	27167075	11	22360											
SLC2A11	66035	genome.wustl.edu	37	22	24224737	24224737	+	Silent	SNP	G	G	A			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr22:24224737G>A	ENST00000345044.6	+	7	1045	c.777G>A	c.(775-777)cgG>cgA	p.R259R	RN7SL268P_ENST00000491172.2_RNA|SLC2A11_ENST00000398356.2_Silent_p.R266R|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000316185.8_Silent_p.R262R|SLC2A11_ENST00000467660.1_3'UTR			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	259					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GCCGTGCCCGGCGCCCATGGG	0.692																																																0			22											13	14	14					22																	24224737		2203	4290	6493	22554737	SO:0001819	synonymous_variant	66035			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.777G>A	22.37:g.24224737G>A			22554737	E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Splice_Site	SNP	ENST00000345044.6	37	CCDS46673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940627|2.940627	0.52972|0.52972	.|.	.|.	ENSG00000133460|ENSG00000251357	ENST00000398363|ENST00000502845	.|.	.|.	.|.	4.12|4.12	3.05|3.05	0.35203|0.35203	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61874	.|0.2382	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59144	.|-0.7509	.|4	.|.	.|.	.|.	.|.	11.3125|11.3125	0.49372|0.49372	0.0:0.0:0.8158:0.1842|0.0:0.0:0.8158:0.1842	.|.	.|.	.|.	.|.	.|D	-1|31	.|.	.|.	.|G	+|+	.|2	.|0	SLC2A11|AP000350.10	22554737|22554737	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.450000|0.450000	0.32258|0.32258	5.346000|5.346000	0.65992|0.65992	0.980000|0.980000	0.38523|0.38523	0.597000|0.597000	0.82753|0.82753	.|GGC		0.692	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		A	24224737	G	A	24224737	2	1	408	1	0	0	0	0	0	0	0	1	14543	1190	42	2		2	SLC2A11	22	24224737	Silent	SNP	G	TCGA-57-1586-01A-02W-0633-09		24224737	27079829	12	22361											
LARGE	9215	genome.wustl.edu	37	22	33712103	33712103	+	Missense_Mutation	SNP	G	G	C	rs370668049		TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr22:33712103G>C	ENST00000354992.2	-	12	1990	c.1419C>G	c.(1417-1419)gaC>gaG	p.D473E	LARGE_ENST00000397394.2_Missense_Mutation_p.D473E|LARGE_ENST00000452586.2_Missense_Mutation_p.D272E|LARGE_ENST00000402320.1_Missense_Mutation_p.D421E|LARGE_ENST00000437602.2_Missense_Mutation_p.D473E|LARGE_ENST00000337431.2_Missense_Mutation_p.D421E	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	473					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCAGGGTGACGTCCGTGCTGT	0.597																																					Colon(70;397 1175 4573 19089 45288)											0			22											137	100	113					22																	33712103		2203	4300	6503	32042103	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1419C>G	22.37:g.33712103G>C	ENSP00000347088:p.Asp473Glu		32042103	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218891	0.58560	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.57436	0.81;0.85;0.81;0.85;0.4;2.0	5.26	-6.73	0.01749	.	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.64260	1.97	0.53688	D	0.999978	D;B;P;D	0.76494	0.999;0.272;0.818;0.973	D;B;P;P	0.74348	0.983;0.181;0.638;0.866	T	0.69176	-0.5214	10	0.46703	T	0.11	-6.143	14.996	0.71431	0.6499:0.0:0.3501:0.0	.	473;272;421;473	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	E	150;150;150;473;421;473;421;272;473	ENSP00000347088:D473E;ENSP00000336636:D421E;ENSP00000380549:D473E;ENSP00000385223:D421E;ENSP00000407917:D272E;ENSP00000388544:D473E	ENSP00000336636:D421E	D	-	3	2	LARGE	32042103	0.004000	0.15560	0.511000	0.27724	0.343000	0.28985	-1.102000	0.03332	-1.014000	0.03379	-0.749000	0.03505	GAC		0.597	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		C	33712103	G	C	33712103	3	2	408	1	0	0	0	0	1	0	0	0	8627	1136	40	3	871	3	LARGE	22	33712103	Missense_Mutation	SNP	G	TCGA-57-1586-01A-02W-0633-09	9487366	33712103	17592463	13	22362											
LARGE	9215	genome.wustl.edu	37	22	33777919	33777919	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1586-01A-02W-0633-09	TCGA-57-1586-11A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	28f5e4a4-de41-4c6e-9d8b-a2526743ac79	746ffb07-3eab-4c11-81f5-00cd3717bb53	g.chr22:33777919C>A	ENST00000354992.2	-	10	1688	c.1117G>T	c.(1117-1119)Gtg>Ttg	p.V373L	LARGE_ENST00000397394.2_Missense_Mutation_p.V373L|LARGE_ENST00000452586.2_Missense_Mutation_p.V172L|LARGE_ENST00000402320.1_Missense_Mutation_p.V373L|LARGE_ENST00000437602.2_Missense_Mutation_p.V373L|LARGE_ENST00000337431.2_Missense_Mutation_p.V373L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	373					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGATCAGACACGTCTCTGTAG	0.567																																					Colon(70;397 1175 4573 19089 45288)											0			22											142	137	139					22																	33777919		2203	4300	6503	32107919	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1117G>T	22.37:g.33777919C>A	ENSP00000347088:p.Val373Leu		32107919	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602022	0.66445	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602;ENST00000421768	T;T;T;T;T;T;T	0.42513	0.97;2.14;0.97;2.14;0.97;0.97;0.97	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	L	0.44542	1.39	0.80722	D	1	B;B;B;B	0.10296	0.003;0.001;0.002;0.001	B;B;B;B	0.18871	0.023;0.004;0.009;0.015	T	0.20405	-1.0276	10	0.12103	T	0.63	-4.1187	18.5375	0.91015	0.0:1.0:0.0:0.0	.	373;172;373;373	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	L	50;50;50;373;373;373;373;172;373;172	ENSP00000347088:V373L;ENSP00000336636:V373L;ENSP00000380549:V373L;ENSP00000385223:V373L;ENSP00000407917:V172L;ENSP00000388544:V373L;ENSP00000403841:V172L	ENSP00000336636:V373L	V	-	1	0	LARGE	32107919	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.587000	0.67510	2.444000	0.82710	0.563000	0.77884	GTG		0.567	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		A	33777919	C	A	33777919	3	1	408	1	0	0	0	0	1	0	0	0	8627	536	19	3	1181	3	LARGE	22	33777919	Missense_Mutation	SNP	C	TCGA-57-1586-01A-02W-0633-09	65816	33777919	17526647	14	22363											
SPEN	23013	broad.mit.edu	37	1	16259192	16259192	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr1:16259192G>A	ENST00000375759.3	+	11	6661	c.6457G>A	c.(6457-6459)Gtg>Atg	p.V2153M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2153	Interaction with MSX2. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.V2153M(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGAAGACGTGTCTGCCTC	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											90	91	91					1																	16259192		2203	4300	6503	16131779	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6457G>A	1.37:g.16259192G>A	ENSP00000364912:p.Val2153Met		16131779	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304931	0.01353	.	.	ENSG00000065526	ENST00000375759	T	0.08634	3.07	5.16	-0.532	0.11890	.	.	.	.	.	T	0.07052	0.0179	N	0.22421	0.69	0.09310	N	1	D	0.59767	0.986	P	0.45276	0.475	T	0.40924	-0.9537	9	0.31617	T	0.26	0.9878	12.1169	0.53870	0.149:0.6695:0.1815:0.0	.	2153	Q96T58	MINT_HUMAN	M	2153	ENSP00000364912:V2153M	ENSP00000364912:V2153M	V	+	1	0	SPEN	16131779	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.342000	0.19926	-0.064000	0.13043	-0.359000	0.07587	GTG		0.547	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		A	16259192	G	A	16259192	3	1	409	1	0	0	0	0	1	0	0	0	15040	1145	40	1	6499	1	SPEN	1	16259192	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08		16259192	232991429	1	22364											
HSPG2	3339	broad.mit.edu	37	1	22205081	22205081	+	Silent	SNP	G	G	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr1:22205081G>T	ENST00000374695.3	-	19	2626	c.2547C>A	c.(2545-2547)cgC>cgA	p.R849R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	849	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R849R(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCTCACAGCGGCGGCCAGTGT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	1											42	44	44					1																	22205081		2203	4300	6503	22077668	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2547C>A	1.37:g.22205081G>T			22077668	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																				0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22205081	G	T	22205081	2	4	409	1	0	0	0	0	0	0	0	1	7430	1190	42	3		3	HSPG2	1	22205081	Silent	SNP	G	TCGA-57-1993-01A-01W-0699-08	5945889	22205081	227045540	2	22365											
PAFAH2	5051	broad.mit.edu	37	1	26303245	26303245	+	Missense_Mutation	SNP	C	C	T	rs200838566	byFrequency	TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr1:26303245C>T	ENST00000374282.3	-	8	865	c.686G>A	c.(685-687)cGt>cAt	p.R229H	PAFAH2_ENST00000374284.1_Missense_Mutation_p.R229H	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	229					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)	p.R229H(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGCCACACGGCTCATGTC	0.483													C|||	3	0.000599042	0.0015	0	5008	,	,		18775	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	1											88	75	80					1																	26303245		2203	4300	6503	26175832	SO:0001583	missense	5051			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.686G>A	1.37:g.26303245C>T	ENSP00000363400:p.Arg229His		26175832	D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	CCDS270.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	19.00	3.741230	0.69304	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.56275	0.47;0.47	5.2	4.29	0.51040	.	0.222920	0.30781	N	0.008893	T	0.56804	0.2010	M	0.72479	2.2	0.09310	N	0.999999	D	0.53151	0.958	P	0.48921	0.595	T	0.53634	-0.8411	10	0.46703	T	0.11	-1.9135	9.8644	0.41134	0.0:0.8323:0.0:0.1677	.	229	Q99487	PAFA2_HUMAN	H	229	ENSP00000363400:R229H;ENSP00000363402:R229H	ENSP00000363400:R229H	R	-	2	0	PAFAH2	26175832	0.124000	0.22315	0.760000	0.31359	0.972000	0.66771	1.043000	0.30316	1.321000	0.45227	0.313000	0.20887	CGT		0.483	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		T	26303245	C	T	26303245	3	4	409	1	0	0	0	0	1	0	0	0	11387	536	19	1	508	1	PAFAH2	1	26303245	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08	4098164	26303245	222947376	3	22366											
FAM167B	84734	broad.mit.edu	37	1	32713083	32713083	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr1:32713083G>T	ENST00000373582.3	+	1	250	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	21								p.G21W(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGATGAGGAGGGGGAGAGCCT	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											53	65	61					1																	32713083		2077	4204	6281	32485670	SO:0001583	missense	84734			BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 90"	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.61G>T	1.37:g.32713083G>T	ENSP00000362684:p.Gly21Trp		32485670	Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	12.66	2.004988	0.35415	.	.	ENSG00000183615	ENST00000373582	T	0.30448	1.53	5.02	2.11	0.27256	.	0.540328	0.15603	U	0.253791	T	0.13970	0.0338	N	0.08118	0	0.23689	N	0.997106	P	0.36712	0.566	B	0.32393	0.145	T	0.11131	-1.0600	10	0.72032	D	0.01	.	8.08	0.30739	0.1464:0.1312:0.7224:0.0	.	21	Q9BTA0	F167B_HUMAN	W	21	ENSP00000362684:G21W	ENSP00000362684:G21W	G	+	1	0	FAM167B	32485670	1.000000	0.71417	0.262000	0.24481	0.875000	0.50365	4.347000	0.59373	0.254000	0.21573	-0.136000	0.14681	GGG		0.617	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		T	32713083	G	T	32713083	3	4	409	1	0	0	0	0	1	0	0	0	5484	1232	43	3	63	3	FAM167B	1	32713083	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08	6409838	32713083	216537538	4	22367											
LRRC8C	84230	broad.mit.edu	37	1	90179703	90179703	+	Missense_Mutation	SNP	T	T	G	rs199876585	byFrequency	TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr1:90179703T>G	ENST00000370454.4	+	3	1829	c.1574T>G	c.(1573-1575)cTa>cGa	p.L525R	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	525					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L525R(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GTTGGCTCTCTAAGTCATGAT	0.458													T|||	2	0.000399361	0	0	5008	,	,		19807	0.002		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											81	79	80					1																	90179703		2203	4300	6503	89952291	SO:0001583	missense	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1574T>G	1.37:g.90179703T>G	ENSP00000359483:p.Leu525Arg		89952291	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	CCDS725.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	16.90	3.250680	0.59212	.	.	ENSG00000171488	ENST00000370454	T	0.23754	1.89	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	T	0.25865	0.0630	L	0.29908	0.895	0.58432	D	0.999997	D	0.69078	0.997	D	0.63033	0.91	T	0.02417	-1.1162	10	0.39692	T	0.17	.	15.7125	0.77641	0.0:0.0:0.0:1.0	.	525	Q8TDW0	LRC8C_HUMAN	R	525	ENSP00000359483:L525R	ENSP00000359483:L525R	L	+	2	0	LRRC8C	89952291	0.996000	0.38824	0.999000	0.59377	0.992000	0.81027	7.997000	0.88414	2.165000	0.68154	0.528000	0.53228	CTA		0.458	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		G	90179703	T	G	90179703	3	3	409	1	0	0	0	0	1	0	0	0	9023	1522	53	5	1580	5	LRRC8C	1	90179703	Missense_Mutation	SNP	T	TCGA-57-1993-01A-01W-0699-08	57466620	90179703	159070918	5	22368											
NPL	80896	broad.mit.edu	37	1	182787734	182787734	+	Silent	SNP	G	G	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr1:182787734G>A	ENST00000367553.1	+	8	560	c.516G>A	c.(514-516)ctG>ctA	p.L172L	NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367554.3_Silent_p.L153L|NPL_ENST00000258317.2_Silent_p.L172L|NPL_ENST00000367552.2_Silent_p.L172L|NPL_ENST00000367555.1_Silent_p.L172L	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	172					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)	p.L172L(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TCCAAGGGCTGAAATTCAGTG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	1											99	97	98					1																	182787734		2203	4300	6503	181054357	SO:0001819	synonymous_variant	80896			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.516G>A	1.37:g.182787734G>A			181054357	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Silent	SNP	ENST00000367553.1	37	CCDS1350.1																																																																																				0.448	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769		A	182787734	G	A	182787734	2	1	409	1	0	0	0	0	0	0	0	1	10585	1277	45	2		2	NPL	1	182787734	Silent	SNP	G	TCGA-57-1993-01A-01W-0699-08	92608031	182787734	66462887	6	22369											
NUP133	55746	broad.mit.edu	37	1	229631266	229631266	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr1:229631266C>T	ENST00000261396.3	-	8	1113	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	NUP133_ENST00000537506.1_Missense_Mutation_p.R325Q	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	341					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.R341Q(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GTCCAAATATCGAATGTTGAC	0.294																																																1	Substitution - Missense(1)	ovary(1)	1											156	146	149					1																	229631266		2202	4299	6501	227697889	SO:0001583	missense	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1022G>A	1.37:g.229631266C>T	ENSP00000261396:p.Arg341Gln		227697889	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	8.651	0.898247	0.17686	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.44881	0.91;0.91;0.91	5.6	-2.14	0.07123	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	1.484590	0.03252	N	0.181990	T	0.18593	0.0446	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16424	-1.0403	10	0.13470	T	0.59	-1.3506	6.828	0.23895	0.0:0.196:0.1496:0.6544	.	341	Q8WUM0	NU133_HUMAN	Q	341;341;341;325	ENSP00000261396:R341Q;ENSP00000355640:R341Q;ENSP00000443496:R325Q	ENSP00000261396:R341Q	R	-	2	0	NUP133	227697889	0.049000	0.20398	0.268000	0.24571	0.865000	0.49528	0.472000	0.22116	0.004000	0.14682	-0.345000	0.07892	CGA		0.294	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		T	229631266	C	T	229631266	3	4	409	1	0	0	0	0	1	0	0	0	10754	884	31	1	2524	1	NUP133	1	229631266	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08	46843532	229631266	19619355	7	22370											
PTPN4	5775	broad.mit.edu	37	2	120723097	120723097	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr2:120723097C>G	ENST00000263708.2	+	25	3205	c.2434C>G	c.(2434-2436)Cag>Gag	p.Q812E	PTPN4_ENST00000544261.1_Missense_Mutation_p.Q445E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	812	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.Q812E(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TCCACTCACTCAGATCCAGTA	0.388																																																1	Substitution - Missense(1)	ovary(1)	2											127	109	115					2																	120723097		2203	4300	6503	120439567	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2434C>G	2.37:g.120723097C>G	ENSP00000263708:p.Gln812Glu		120439567	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.804393|4.804393	0.90623|0.90623	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000263708;ENST00000544261|ENST00000441089	T;T|.	0.15952|.	2.38;2.38|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88138|.	0.6356|.	H|H	0.95816|0.95816	3.725|3.725	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.75484|.	0.986|.	D|.	0.90958|.	0.4810|.	10|.	0.87932|.	D|.	0|.	.|.	19.8965|19.8965	0.96963|0.96963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	812|.	P29074|.	PTN4_HUMAN|.	E|X	812;445|95	ENSP00000263708:Q812E;ENSP00000445841:Q445E|.	ENSP00000263708:Q812E|.	Q|S	+|+	1|2	0|0	PTPN4|PTPN4	120439567|120439567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.625000|7.625000	0.83145|0.83145	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			G	120723097	C	G	120723097	3	3	409	1	0	0	0	0	1	0	0	0	12793	827	29	3	2528	3	PTPN4	2	120723097	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08		120723097	122476276	8	22371											
AGPS	8540	broad.mit.edu	37	2	178301755	178301755	+	Silent	SNP	C	C	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr2:178301755C>A	ENST00000264167.4	+	5	756	c.610C>A	c.(610-612)Cga>Aga	p.R204R	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	204	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.R204R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AATGTTTGAGCGAATTCCTGA	0.303																																																1	Substitution - coding silent(1)	ovary(1)	2											126	133	130					2																	178301755		2203	4300	6503	178010001	SO:0001819	synonymous_variant	8540			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.610C>A	2.37:g.178301755C>A			178010001	A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	CCDS2275.1																																																																																				0.303	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			A	178301755	C	A	178301755	2	1	409	1	0	0	0	0	0	0	0	1	394	760	27	3		3	AGPS	2	178301755	Silent	SNP	C	TCGA-57-1993-01A-01W-0699-08	57578658	178301755	64897618	9	22372											
ZMAT3	64393	broad.mit.edu	37	3	178785321	178785321	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr3:178785321G>C	ENST00000311417.2	-	2	961	c.220C>G	c.(220-222)Ctc>Gtc	p.L74V	ZMAT3_ENST00000432729.1_Missense_Mutation_p.L74V	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3									p.L74V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ACATTGCAGAGTTTGCAGTAC	0.517																																																1	Substitution - Missense(1)	ovary(1)	3											163	158	160					3																	178785321		2203	4300	6503	180268015	SO:0001583	missense	64393			AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"Zinc fingers, matrin-type"	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.220C>G	3.37:g.178785321G>C	ENSP00000311221:p.Leu74Val		180268015		Missense_Mutation	SNP	ENST00000311417.2	37	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231015	0.58777	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.24151	1.87;1.87;1.87	5.86	5.86	0.93980	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	L	0.37800	1.135	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.996;0.998	T	0.04005	-1.0985	10	0.08179	T	0.78	-13.2241	20.1931	0.98233	0.0:0.0:1.0:0.0	.	74;74	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	V	74	ENSP00000311221:L74V;ENSP00000396506:L74V;ENSP00000398920:L74V	ENSP00000311221:L74V	L	-	1	0	ZMAT3	180268015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.529000	0.81952	2.771000	0.95319	0.563000	0.77884	CTC		0.517	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		C	178785321	G	C	178785321	3	2	409	1	0	0	0	0	1	0	0	0	17693	1029	36	3	669	3	ZMAT3	3	178785321	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08		178785321	19237109	10	22373											
NPFFR2	10886	broad.mit.edu	37	4	72994447	72994447	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr4:72994447A>G	ENST00000308744.6	+	2	543	c.445A>G	c.(445-447)Atc>Gtc	p.I149V	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Missense_Mutation_p.I47V|NPFFR2_ENST00000395999.1_Missense_Mutation_p.I50V	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	149					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.I149V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGTGGCAGCAATCTTCATTAT	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											211	184	193					4																	72994447		2203	4300	6503	73213311	SO:0001583	missense	10886			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.445A>G	4.37:g.72994447A>G	ENSP00000307822:p.Ile149Val		73213311	Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	2.101	-0.406060	0.04832	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.36878	1.23;1.23;1.23	5.9	-8.38	0.00973	.	0.783752	0.11492	N	0.558592	T	0.17109	0.0411	N	0.05306	-0.075	0.19575	N	0.999968	B;B	0.09022	0.001;0.002	B;B	0.09377	0.003;0.004	T	0.29336	-1.0015	10	0.13470	T	0.59	.	22.188	0.99968	0.2312:0.0:0.7688:0.0	.	50;149	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	V	149;50;47	ENSP00000307822:I149V;ENSP00000379321:I50V;ENSP00000351599:I47V	ENSP00000307822:I149V	I	+	1	0	NPFFR2	73213311	0.000000	0.05858	0.002000	0.10522	0.821000	0.46438	-0.985000	0.03751	-1.524000	0.01764	0.528000	0.53228	ATC		0.378	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		G	72994447	A	G	72994447	3	3	409	1	0	0	0	0	1	0	0	0	10578	101	4	4	457	4	NPFFR2	4	72994447	Missense_Mutation	SNP	A	TCGA-57-1993-01A-01W-0699-08		72994447	118159829	11	22374											
CDH10	1008	broad.mit.edu	37	5	24488157	24488157	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr5:24488157C>T	ENST00000264463.4	-	12	2489	c.1982G>A	c.(1981-1983)gGt>gAt	p.G661D	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	661					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G661D(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTCCACCACCCTCATCGTT	0.463										HNSCC(23;0.051)																																						1	Substitution - Missense(1)	ovary(1)	5											64	66	65					5																	24488157		2203	4300	6503	24523914	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1982G>A	5.37:g.24488157C>T	ENSP00000264463:p.Gly661Asp		24523914	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815241	0.70912	.	.	ENSG00000040731	ENST00000264463	D	0.86030	-2.06	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.95497	0.8537	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96987	0.9719	10	0.87932	D	0	.	18.2978	0.90153	0.0:1.0:0.0:0.0	.	661	Q9Y6N8	CAD10_HUMAN	D	661	ENSP00000264463:G661D	ENSP00000264463:G661D	G	-	2	0	CDH10	24523914	1.000000	0.71417	0.799000	0.32177	0.592000	0.36648	7.657000	0.83745	2.580000	0.87095	0.655000	0.94253	GGT		0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		T	24488157	C	T	24488157	3	4	409	1	0	0	0	0	1	0	0	0	3096	507	18	2	388	2	CDH10	5	24488157	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08		24488157	156427103	12	22375											
ACTBL2	345651	broad.mit.edu	37	5	56777932	56777932	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr5:56777932G>T	ENST00000423391.1	-	1	704	c.603C>A	c.(601-603)ttC>ttA	p.F201L	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	201						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.F201L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CAGTGGTGGTGAAGTTATAGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											102	83	89					5																	56777932		2203	4300	6503	56813689	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.603C>A	5.37:g.56777932G>T	ENSP00000416706:p.Phe201Leu		56813689	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	7.605	0.673527	0.14776	.	.	ENSG00000169067	ENST00000423391	D	0.94497	-3.44	4.91	3.13	0.36017	.	0.000000	0.64402	D	0.000002	D	0.95198	0.8443	L	0.54908	1.71	0.38240	D	0.941283	B	0.25206	0.12	P	0.46758	0.526	D	0.93445	0.6797	10	0.87932	D	0	.	12.6888	0.56962	0.1333:0.0:0.8667:0.0	.	201	Q562R1	ACTBL_HUMAN	L	201	ENSP00000416706:F201L	ENSP00000416706:F201L	F	-	3	2	ACTBL2	56813689	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.736000	0.62059	0.284000	0.22305	-1.731000	0.00696	TTC		0.542	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		T	56777932	G	T	56777932	3	4	409	1	0	0	0	0	1	0	0	0	194	1281	45	3	531	3	ACTBL2	5	56777932	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08	32289775	56777932	124137328	13	22376											
ACTBL2	345651	broad.mit.edu	37	5	56778051	56778051	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr5:56778051G>T	ENST00000423391.1	-	1	585	c.484C>A	c.(484-486)Cac>Aac	p.H162N	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	162				H -> L (in Ref. 4; AAX82259). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.H162N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGCACGATGTGAGTGACCCCA	0.552																																																1	Substitution - Missense(1)	ovary(1)	5											103	88	93					5																	56778051		2203	4300	6503	56813808	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.484C>A	5.37:g.56778051G>T	ENSP00000416706:p.His162Asn		56813808	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860579	0.51482	.	.	ENSG00000169067	ENST00000423391	T	0.08984	3.03	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000002	T	0.42877	0.1222	H	0.96970	3.915	0.53688	D	0.99997	B	0.23735	0.09	P	0.50570	0.644	T	0.53514	-0.8428	10	0.87932	D	0	.	15.3116	0.74039	0.0:0.0:1.0:0.0	.	162	Q562R1	ACTBL_HUMAN	N	162	ENSP00000416706:H162N	ENSP00000416706:H162N	H	-	1	0	ACTBL2	56813808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.452000	0.82932	0.655000	0.94253	CAC		0.552	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		T	56778051	G	T	56778051	3	4	409	1	0	0	0	0	1	0	0	0	194	1290	45	3	650	3	ACTBL2	5	56778051	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08	119	56778051	124137209	14	22377											
CLVS2	134829	broad.mit.edu	37	6	123319036	123319036	+	Silent	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr6:123319036C>T	ENST00000275162.5	+	2	1449	c.114C>T	c.(112-114)gtC>gtT	p.V38V	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	38					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.V38V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGGATATGGTCATCACCAGGC	0.567																																																1	Substitution - coding silent(1)	ovary(1)	6											172	140	151					6																	123319036		2203	4300	6503	123360735	SO:0001819	synonymous_variant	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.114C>T	6.37:g.123319036C>T			123360735	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	CCDS34525.1																																																																																				0.567	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		T	123319036	C	T	123319036	2	4	409	1	0	0	0	0	0	0	0	1	3572	813	29	2		2	CLVS2	6	123319036	Silent	SNP	C	TCGA-57-1993-01A-01W-0699-08		123319036	47796031	15	22378											
HIVEP2	3097	broad.mit.edu	37	6	143095727	143095727	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr6:143095727A>G	ENST00000367604.1	-	4	788	c.149T>C	c.(148-150)aTa>aCa	p.I50T	HIVEP2_ENST00000012134.2_Missense_Mutation_p.I50T|HIVEP2_ENST00000367603.2_Missense_Mutation_p.I50T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I50T(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCAGGCTCTATTTGTGGTTG	0.478																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											1	Substitution - Missense(1)	ovary(1)	6											214	218	217					6																	143095727		2068	4217	6285	143137420	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.149T>C	6.37:g.143095727A>G	ENSP00000356576:p.Ile50Thr		143137420	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	A	3.593	-0.083115	0.07141	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02395	4.31;4.31;4.31	5.86	3.49	0.39957	.	0.365544	0.31061	N	0.008335	T	0.01387	0.0045	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43621	-0.9380	10	0.54805	T	0.06	-3.1552	10.066	0.42303	0.8642:0.0:0.1358:0.0	.	50	P31629	ZEP2_HUMAN	T	50	ENSP00000356576:I50T;ENSP00000356575:I50T;ENSP00000012134:I50T	ENSP00000012134:I50T	I	-	2	0	HIVEP2	143137420	0.875000	0.30112	0.004000	0.12327	0.378000	0.30076	2.149000	0.42244	0.485000	0.27652	0.528000	0.53228	ATA		0.478	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			G	143095727	A	G	143095727	3	3	409	1	0	0	0	0	1	0	0	0	7187	449	16	4	7215	4	HIVEP2	6	143095727	Missense_Mutation	SNP	A	TCGA-57-1993-01A-01W-0699-08	19776691	143095727	28019340	16	22379											
LAMB4	22798	broad.mit.edu	37	7	107752378	107752378	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr7:107752378C>T	ENST00000388781.3	-	4	289	c.206G>A	c.(205-207)tGc>tAc	p.C69Y	LAMB4_ENST00000205386.4_Missense_Mutation_p.C69Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.C69Y|LAMB4_ENST00000418464.1_Missense_Mutation_p.C69Y|LAMB4_ENST00000414450.2_Missense_Mutation_p.C69Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	69	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.C69Y(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACAGATGAAGCATTTTTGTTC	0.343																																																1	Substitution - Missense(1)	ovary(1)	7											148	142	144					7																	107752378		2203	4300	6503	107539614	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.206G>A	7.37:g.107752378C>T	ENSP00000373433:p.Cys69Tyr		107539614	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914104	0.72983	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.28	4.4	0.53042	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000012	D	0.94545	0.8243	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.95702	0.8750	10	0.87932	D	0	.	14.1354	0.65284	0.0:0.9282:0.0:0.0718	.	69	A4D0S4	LAMB4_HUMAN	Y	69	ENSP00000205386:C69Y;ENSP00000373433:C69Y;ENSP00000373432:C69Y;ENSP00000402353:C69Y;ENSP00000402265:C69Y	ENSP00000205386:C69Y	C	-	2	0	LAMB4	107539614	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.442000	0.59988	1.601000	0.50113	0.655000	0.94253	TGC		0.343	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107752378	C	T	107752378	3	4	409	1	0	0	0	0	1	0	0	0	8613	710	25	2	5203	2	LAMB4	7	107752378	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08		107752378	51386285	17	22380											
IQUB	154865	broad.mit.edu	37	7	123101473	123101473	+	Nonsense_Mutation	SNP	G	G	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr7:123101473G>A	ENST00000466202.1	-	11	2521	c.1945C>T	c.(1945-1947)Caa>Taa	p.Q649*	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Nonsense_Mutation_p.Q649*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	649					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.Q649*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TAGAGCTGTTGAAGTAAACAT	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	7											102	103	102					7																	123101473		2203	4299	6502	122888709	SO:0001587	stop_gained	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1945C>T	7.37:g.123101473G>A	ENSP00000417769:p.Gln649*		122888709	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	38	6.701363	0.97772	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	.	.	.	5.94	2.63	0.31362	.	0.536767	0.21170	N	0.078995	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	4.8354	0.13462	0.0778:0.1118:0.2437:0.5667	.	.	.	.	X	649	.	ENSP00000324882:Q649X	Q	-	1	0	IQUB	122888709	0.299000	0.24426	0.701000	0.30321	0.953000	0.61014	2.307000	0.43682	0.680000	0.31366	0.643000	0.83706	CAA		0.388	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		A	123101473	G	A	123101473	4	1	409	1	0	0	0	0	0	1	0	0	7820	1299	45	2	442	2	IQUB	7	123101473	Nonsense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08	15349095	123101473	36037190	18	22381											
C9orf11	54586	broad.mit.edu	37	9	27286331	27286331	+	Missense_Mutation	SNP	T	T	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr9:27286331T>A	ENST00000380032.3	-	7	594	c.511A>T	c.(511-513)Aat>Tat	p.N171Y	EQTN_ENST00000537675.1_Missense_Mutation_p.N142Y	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	171					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.N171Y(1)									TCTGGCTGATTTTCTCCCTGT	0.433																																																1	Substitution - Missense(1)	ovary(1)	9											143	131	135					9																	27286331		2203	4300	6503	27276331	SO:0001583	missense	54586			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.511A>T	9.37:g.27286331T>A	ENSP00000369371:p.Asn171Tyr		27276331	B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	ENST00000380032.3	37	CCDS35001.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.738707	0.49045	.	.	ENSG00000120160	ENST00000537675;ENST00000380032	T;T	0.32023	1.47;1.47	4.68	-9.37	0.00626	.	1.194930	0.06424	N	0.722887	T	0.16514	0.0397	L	0.38175	1.15	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.34850	-0.9812	10	0.66056	D	0.02	.	1.2866	0.02052	0.2282:0.3313:0.2525:0.188	.	142;171	B7ZMK1;Q9NQ60	.;AFAF_HUMAN	Y	142;171	ENSP00000441630:N142Y;ENSP00000369371:N171Y	ENSP00000369371:N171Y	N	-	1	0	C9orf11	27276331	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.374000	0.07484	-1.543000	0.01723	0.455000	0.32223	AAT		0.433	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		A	27286331	T	A	27286331	3	1	409	1	0	0	0	0	1	0	0	0	2448	1841	64	5	381	5	C9orf11	9	27286331	Missense_Mutation	SNP	T	TCGA-57-1993-01A-01W-0699-08		27286331	113927100	19	22382											
RECQL	5965	broad.mit.edu	37	12	21626516	21626516	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr12:21626516G>T	ENST00000444129.2	-	12	1884	c.1416C>A	c.(1414-1416)aaC>aaA	p.N472K	RECQL_ENST00000421138.2_Missense_Mutation_p.N472K	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	472					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.N472K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CGCACATTTTGTTACATGCTT	0.353								Other identified genes with known or suspected DNA repair function																																								1	Substitution - Missense(1)	ovary(1)	12											127	104	112					12																	21626516		2202	4299	6501	21517783	SO:0001583	missense	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1416C>A	12.37:g.21626516G>T	ENSP00000416739:p.Asn472Lys		21517783	A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003748	0.54254	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.33654	1.4;1.4	6.04	4.23	0.50019	.	0.173134	0.64402	D	0.000011	T	0.24470	0.0593	L	0.37507	1.11	0.46336	D	0.998999	P	0.34757	0.467	B	0.24541	0.054	T	0.02975	-1.1087	10	0.26408	T	0.33	-19.5993	12.1619	0.54109	0.0644:0.1209:0.8147:0.0	.	472	P46063	RECQ1_HUMAN	K	472	ENSP00000416739:N472K;ENSP00000395449:N472K	ENSP00000395449:N472K	N	-	3	2	RECQL	21517783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.968000	0.49224	0.888000	0.36160	0.563000	0.77884	AAC		0.353	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		T	21626516	G	T	21626516	3	4	409	1	0	0	0	0	1	0	0	0	13204	1368	48	3	549	3	RECQL	12	21626516	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08		21626516	112225379	20	22383											
MYL6	4637	broad.mit.edu	37	12	56553369	56553369	+	Splice_Site	SNP	A	A	G			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr12:56553369A>G	ENST00000550697.1	+	3	272		c.e3-1		MYL6_ENST00000548293.1_Splice_Site|RP11-977G19.5_ENST00000553176.1_RNA|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000348108.4_Splice_Site|MYL6_ENST00000536128.1_Splice_Site|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000293422.5_Splice_Site|MYL6_ENST00000548400.1_Splice_Site|MYL6_ENST00000547649.1_Splice_Site|MYL6_ENST00000551589.1_Splice_Site|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000549017.1_Splice_Site|MYL6_ENST00000547408.1_Splice_Site	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.?(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CTGAATCCTCAGAGTTCAAGG	0.512																																																1	Unknown(1)	ovary(1)	12											113	107	109					12																	56553369		2203	4300	6503	54839636	SO:0001630	splice_region_variant	4637			AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"Myosins / Light chain", "EF-hand domain containing"	7587	protein-coding gene	gene with protein product		609931	"myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.32-1A>G	12.37:g.56553369A>G			54839636	P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Splice_Site	SNP	ENST00000550697.1	37	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792491	0.70452	.	.	ENSG00000092841	ENST00000550697;ENST00000293422;ENST00000348108;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000553056;ENST00000548400;ENST00000548293	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5576	0.61768	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYL6	54839636	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.129000	0.94430	2.106000	0.64143	0.455000	0.32223	.		0.512	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3		Intron	G	56553369	A	G	56553369	5	3	409	1	0	0	0	0	0	0	1	0	10051	202	7	4	40	4	MYL6	12	56553369	Splice_Site	SNP	A	TCGA-57-1993-01A-01W-0699-08	34926853	56553369	77298526	21	22384											
WIF1	11197	broad.mit.edu	37	12	65471525	65471525	+	Splice_Site	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr12:65471525C>T	ENST00000286574.4	-	3	772		c.e3+1			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.?(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AGACCACCCACCTGATGCCTT	0.428			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	1	Unknown(1)	ovary(1)	12											103	85	91					12																	65471525		2203	4300	6503	63757792	SO:0001630	splice_region_variant	11197			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.397+1G>A	12.37:g.65471525C>T			63757792	Q6UXI1|Q8WVG4	Splice_Site	SNP	ENST00000286574.4	37	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517856	0.85495	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4405	0.94817	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WIF1	63757792	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.115000	0.71566	2.689000	0.91719	0.650000	0.86243	.		0.428	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		Intron	T	65471525	C	T	65471525	5	4	409	1	0	0	0	0	0	0	1	0	17366	521	18	2	773	2	WIF1	12	65471525	Splice_Site	SNP	C	TCGA-57-1993-01A-01W-0699-08	8918156	65471525	68380370	22	22385											
KIAA0564	23078	broad.mit.edu	37	13	42407524	42407524	+	Silent	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr13:42407524C>T	ENST00000379310.3	-	13	1637	c.1569G>A	c.(1567-1569)acG>acA	p.T523T	VWA8_ENST00000281496.6_Silent_p.T523T	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	523						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T523T(1)									ATACAGCAAGCGTGCCCGCAT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	13											62	54	57					13																	42407524		2203	4300	6503	41305524	SO:0001819	synonymous_variant	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1569G>A	13.37:g.42407524C>T			41305524	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	CCDS41881.1																																																																																				0.507	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42407524	C	T	42407524	2	4	409	1	0	0	0	0	0	0	0	1	8185	755	27	1		1	KIAA0564	13	42407524	Silent	SNP	C	TCGA-57-1993-01A-01W-0699-08		42407524	72762354	23	22386											
SLITRK1	114798	broad.mit.edu	37	13	84454755	84454755	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr13:84454755C>A	ENST00000377084.2	-	1	1773	c.888G>T	c.(886-888)gaG>gaT	p.E296D		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	296					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.E296D(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGGCATGATCCTCTTGCCCAT	0.552																																																1	Substitution - Missense(1)	ovary(1)	13											77	76	76					13																	84454755		2203	4300	6503	83352756	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.888G>T	13.37:g.84454755C>A	ENSP00000366288:p.Glu296Asp		83352756	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	1.743	-0.491290	0.04322	.	.	ENSG00000178235	ENST00000377084	T	0.58210	0.35	4.85	-2.48	0.06423	.	0.209202	0.45126	N	0.000386	T	0.20210	0.0486	N	0.08118	0	0.34715	D	0.728125	B	0.06786	0.001	B	0.06405	0.002	T	0.10590	-1.0623	10	0.12766	T	0.61	-7.8753	2.5523	0.04751	0.1189:0.2653:0.119:0.4969	.	296	Q96PX8	SLIK1_HUMAN	D	296	ENSP00000366288:E296D	ENSP00000366288:E296D	E	-	3	2	SLITRK1	83352756	0.405000	0.25336	0.933000	0.37362	0.965000	0.64279	0.024000	0.13555	-0.672000	0.05266	-1.164000	0.01763	GAG		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84454755	C	A	84454755	3	1	409	1	0	0	0	0	1	0	0	0	14745	680	24	3	1206	3	SLITRK1	13	84454755	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08	42047231	84454755	30715123	24	22387											
NUMB	8650	broad.mit.edu	37	14	73743432	73743432	+	Missense_Mutation	SNP	T	T	C			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr14:73743432T>C	ENST00000355058.3	-	13	2088	c.1810A>G	c.(1810-1812)Aca>Gca	p.T604A	NUMB_ENST00000555738.2_Missense_Mutation_p.T447A|NUMB_ENST00000557597.1_Missense_Mutation_p.T593A|NUMB_ENST00000555394.1_Missense_Mutation_p.T556A|NUMB_ENST00000554546.1_Missense_Mutation_p.T545A|NUMB_ENST00000560335.1_Missense_Mutation_p.T458A|NUMB_ENST00000356296.4_Missense_Mutation_p.T556A|RP4-647C14.3_ENST00000556578.1_RNA|NUMB_ENST00000556772.1_Missense_Mutation_p.T460A|NUMB_ENST00000544991.3_Missense_Mutation_p.T409A|NUMB_ENST00000554521.2_Missense_Mutation_p.T398A|NUMB_ENST00000555238.1_Missense_Mutation_p.T604A|NUMB_ENST00000454166.4_Missense_Mutation_p.T458A|NUMB_ENST00000359560.3_Missense_Mutation_p.T593A|NUMB_ENST00000559312.1_Missense_Mutation_p.T409A|NUMB_ENST00000535282.1_Missense_Mutation_p.T593A			P49757	NUMB_HUMAN	numb homolog (Drosophila)	604					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T604A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GGAACCTCTGTATGCCTGTCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											77	69	72					14																	73743432		2203	4300	6503	72813185	SO:0001583	missense	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1810A>G	14.37:g.73743432T>C	ENSP00000347169:p.Thr604Ala		72813185	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	ENST00000355058.3	37	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.332154	0.00227	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54479	0.58;0.58;1.01;1.01;1.59;1.01;1.01;0.58;0.57;0.58;0.58;0.57;1.01	4.84	-1.52	0.08637	.	0.542064	0.21742	N	0.069803	T	0.19485	0.0468	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.001;0.001;0.0	T	0.12319	-1.0552	10	0.08179	T	0.78	-0.0412	1.6058	0.02684	0.179:0.3014:0.3213:0.1984	.	302;447;458;398;409;545;556;593;604	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	A	545;556;593;604;460;604;593;556;409;458;447;398;593	ENSP00000452416:T545A;ENSP00000348644:T556A;ENSP00000451117:T593A;ENSP00000451300:T604A;ENSP00000451513:T460A;ENSP00000347169:T604A;ENSP00000352563:T593A;ENSP00000451625:T556A;ENSP00000446001:T409A;ENSP00000394025:T458A;ENSP00000452069:T447A;ENSP00000450817:T398A;ENSP00000441258:T593A	ENSP00000347169:T604A	T	-	1	0	NUMB	72813185	0.000000	0.05858	0.532000	0.27989	0.075000	0.17131	-0.194000	0.09559	-0.032000	0.13758	-0.429000	0.05907	ACA		0.522	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			C	73743432	T	C	73743432	3	2	409	1	0	0	0	0	1	0	0	0	10751	1638	57	4	149	4	NUMB	14	73743432	Missense_Mutation	SNP	T	TCGA-57-1993-01A-01W-0699-08		73743432	33606108	25	22388											
NPRL3	8131	broad.mit.edu	37	16	150411	150411	+	Silent	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr16:150411C>T	ENST00000399953.3	-	7	1128	c.726G>A	c.(724-726)ctG>ctA	p.L242L	NPRL3_ENST00000399951.3_Silent_p.L63L|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	242					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)	p.L242L(1)		endometrium(1)|large_intestine(3)|ovary(2)	6						CTGGGGGGATCAGACTGGAGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	16											37	44	42					16																	150411		2011	4165	6176	90411	SO:0001819	synonymous_variant	8131				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.726G>A	16.37:g.150411C>T			90411	D3DU40|Q1W6H0|Q4TT56|Q92469	Silent	SNP	ENST00000399953.3	37																																																																																					0.627	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		T	150411	C	T	150411	2	4	409	1	0	0	0	0	0	0	0	1	10598	813	29	2		2	NPRL3	16	150411	Silent	SNP	C	TCGA-57-1993-01A-01W-0699-08		150411	90204342	26	22389											
ZNF434	54925	broad.mit.edu	37	16	3440120	3440120	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr16:3440120C>T	ENST00000396852.4	-	5	948	c.641G>A	c.(640-642)cGt>cAt	p.R214H	ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R2H|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R214H|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R2H|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R214H	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	214	KRAB.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R2H(1)									TCTGTTGTCACGCATGGCTGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	16											67	47	54					16																	3440120		2197	4300	6497	3380121	SO:0001583	missense	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.641G>A	16.37:g.3440120C>T	ENSP00000380061:p.Arg214His		3380121	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	C	3.452	-0.111784	0.06881	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000418960;ENST00000422427	T;T;T;T	0.19394	2.99;5.69;5.69;2.15	2.99	2.01	0.26516	.	.	.	.	.	T	0.08133	0.0203	N	0.08118	0	0.09310	N	0.999997	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.37056	-0.9722	9	0.15066	T	0.55	.	3.0021	0.06017	0.2714:0.5748:0.0:0.1538	.	2;213;2;214	B4DR24;Q9BU74;Q9NX65;Q6WMU8	.;.;ZN434_HUMAN;.	H	2;214;214;213;2	ENSP00000302502:R2H;ENSP00000380061:R214H;ENSP00000380057:R214H;ENSP00000407312:R2H	ENSP00000302502:R2H	R	-	2	0	ZNF434	3380121	0.000000	0.05858	0.263000	0.24496	0.105000	0.19272	-0.190000	0.09615	1.189000	0.43028	0.467000	0.42956	CGT		0.567	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		T	3440120	C	T	3440120	3	4	409	1	0	0	0	0	1	0	0	0	17908	536	19	1	1464	1	ZNF434	16	3440120	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08	3289709	3440120	86914633	27	22390											
ERCC4	2072	broad.mit.edu	37	16	14029536	14029536	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr16:14029536G>A	ENST00000311895.7	+	8	1756	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	583					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.A583T(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCTTTATGACGCAGAGCTAAC	0.493			"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 - Missense(1)	ovary(1)	16											78	77	77					16																	14029536		2197	4300	6497	13937037	SO:0001583	missense	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.1747G>A	16.37:g.14029536G>A	ENSP00000310520:p.Ala583Thr		13937037	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617095	0.46736	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.61859	0.07	5.33	4.38	0.52667	.	0.050978	0.85682	D	0.000000	T	0.56731	0.2005	M	0.71581	2.175	0.53688	D	0.999975	D	0.58268	0.982	P	0.47075	0.536	T	0.55560	-0.8122	10	0.19590	T	0.45	-16.9429	8.4473	0.32849	0.0776:0.0:0.7699:0.1525	.	583	Q92889	XPF_HUMAN	T	583;572	ENSP00000310520:A583T	ENSP00000310520:A583T	A	+	1	0	ERCC4	13937037	1.000000	0.71417	0.303000	0.25071	0.834000	0.47266	5.253000	0.65452	1.382000	0.46385	-0.229000	0.12294	GCA		0.493	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		A	14029536	G	A	14029536	3	1	409	1	0	0	0	0	1	0	0	0	5215	1087	38	1	1777	1	ERCC4	16	14029536	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08	10589416	14029536	76325217	28	22391											
GGA2	23062	broad.mit.edu	37	16	23481341	23481341	+	Silent	SNP	G	G	T	rs200357653		TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr16:23481341G>T	ENST00000309859.4	-	15	1678	c.1596C>A	c.(1594-1596)atC>atA	p.I532I	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	532	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.I532I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CTTGAAACATGATATCCCAGA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	16											87	80	83					16																	23481341		2197	4300	6497	23388842	SO:0001819	synonymous_variant	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1596C>A	16.37:g.23481341G>T			23388842	D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	ENST00000309859.4	37	CCDS10611.1																																																																																				0.537	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			T	23481341	G	T	23481341	2	4	409	1	0	0	0	0	0	0	0	1	6353	1280	45	3		3	GGA2	16	23481341	Silent	SNP	G	TCGA-57-1993-01A-01W-0699-08	9451805	23481341	66873412	29	22392											
KIAA0664	23277	broad.mit.edu	37	17	2604478	2604478	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr17:2604478G>C	ENST00000570628.2	-	7	972	c.867C>G	c.(865-867)atC>atG	p.I289M	CLUH_ENST00000435359.1_Missense_Mutation_p.I289M|CLUH_ENST00000538975.1_Missense_Mutation_p.I289M			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	289					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.I289M(1)									AGGTCGGGCTGATCTGGTTGA	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											39	41	40					17																	2604478		2004	4156	6160	2551228	SO:0001583	missense	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.867C>G	17.37:g.2604478G>C	ENSP00000458986:p.Ile289Met		2551228	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667161	0.67814	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.82167	-1.58;-1.58	4.65	4.65	0.58169	GSKIP/TIF31 domain (1);	0.047687	0.85682	D	0.000000	D	0.86535	0.5956	M	0.85630	2.765	0.80722	D	1	B;B	0.33477	0.413;0.248	B;B	0.38106	0.265;0.206	D	0.87978	0.2741	10	0.56958	D	0.05	.	16.719	0.85405	0.0:0.0:1.0:0.0	.	289;289	O75153;C9J6D7	K0664_HUMAN;.	M	289	ENSP00000388872:I289M;ENSP00000439628:I289M	ENSP00000320468:I289M	I	-	3	3	KIAA0664	2551228	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.260000	0.95568	2.409000	0.81822	0.655000	0.94253	ATC		0.602	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		C	2604478	G	C	2604478	3	2	409	1	0	0	0	0	1	0	0	0	8189	1280	45	3	3142	3	KIAA0664	17	2604478	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08		2604478	78590732	30	22393											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577538	C	T	7577538	3	4	409	1	0	0	0	0	1	0	0	0	16381	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08	4973060	7577538	73617672	31	22394											
MBTD1	54799	broad.mit.edu	37	17	49270165	49270165	+	Silent	SNP	T	T	C			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr17:49270165T>C	ENST00000586178.1	-	15	2011	c.1668A>G	c.(1666-1668)caA>caG	p.Q556Q	MBTD1_ENST00000415868.1_Silent_p.Q556Q|MBTD1_ENST00000376381.2_3'UTR	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	556					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q392Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGGCTGTAGTTGATATCCAG	0.423																																																2	Substitution - coding silent(2)	ovary(1)|skin(1)	17											162	150	154					17																	49270165		2203	4300	6503	46625164	SO:0001819	synonymous_variant	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1668A>G	17.37:g.49270165T>C			46625164	Q6ZVU7|Q9NXU1	Silent	SNP	ENST00000586178.1	37	CCDS11581.2																																																																																				0.423	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			C	49270165	T	C	49270165	2	2	409	1	0	0	0	0	0	0	0	1	9360	1722	60	4		4	MBTD1	17	49270165	Silent	SNP	T	TCGA-57-1993-01A-01W-0699-08	41692627	49270165	31925045	32	22395											
TXNDC2	84203	broad.mit.edu	37	18	9887220	9887220	+	Silent	SNP	G	G	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr18:9887220G>A	ENST00000306084.6	+	2	943	c.744G>A	c.(742-744)caG>caA	p.Q248Q	TXNDC2_ENST00000357775.5_Silent_p.Q181Q|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	248	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.Q181Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAACCATCCAGCCCAAGGAGG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	18											136	133	134					18																	9887220		2203	4300	6503	9877220	SO:0001819	synonymous_variant	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.744G>A	18.37:g.9887220G>A			9877220	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	CCDS42414.1																																																																																				0.582	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			A	9887220	G	A	9887220	2	1	409	1	0	0	0	0	0	0	0	1	16797	962	34	2		2	TXNDC2	18	9887220	Silent	SNP	G	TCGA-57-1993-01A-01W-0699-08		9887220	68190028	33	22396											
CEP192	55125	broad.mit.edu	37	18	13059273	13059273	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr18:13059273G>A	ENST00000325971.8	+	19	4255	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	CEP192_ENST00000506447.1_Missense_Mutation_p.V1484I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	888					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.V888I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCAGCACCGTCACTCTCAC	0.458																																																1	Substitution - Missense(1)	ovary(1)	18											148	136	140					18																	13059273		2203	4300	6503	13049273	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2662G>A	18.37:g.13059273G>A	ENSP00000317156:p.Val888Ile		13049273	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	G	18.33	3.601079	0.66332	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80653	-1.4;-1.4;-1.4	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.89760	0.6808	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.962;0.996	D	0.90832	0.4717	10	0.87932	D	0	-15.641	18.8382	0.92171	0.0:0.0:1.0:0.0	.	1009;1484;888	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	I	1484;888;888;1009	ENSP00000427550:V1484I;ENSP00000317156:V888I;ENSP00000389190:V1009I	ENSP00000317156:V888I	V	+	1	0	CEP192	13049273	1.000000	0.71417	0.586000	0.28679	0.022000	0.10575	9.136000	0.94489	2.520000	0.84964	0.591000	0.81541	GTC		0.458	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		A	13059273	G	A	13059273	3	1	409	1	0	0	0	0	1	0	0	0	3251	1145	40	1	4528	1	CEP192	18	13059273	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08	3172053	13059273	65017975	34	22397											
ZNF846	162993	broad.mit.edu	37	19	9868185	9868185	+	Missense_Mutation	SNP	T	T	C			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr19:9868185T>C	ENST00000397902.2	-	6	1981	c.1568A>G	c.(1567-1569)aAa>aGa	p.K523R	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K523R(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTTAGATGTTTAGCAAGTGC	0.363																																																1	Substitution - Missense(1)	ovary(1)	19											151	158	156					19																	9868185		2030	4210	6240	9729185	SO:0001583	missense	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1568A>G	19.37:g.9868185T>C	ENSP00000380999:p.Lys523Arg		9729185	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	7.610	0.674522	0.14841	.	.	ENSG00000196605	ENST00000397902	T	0.07567	3.18	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.11870	0.19	0.09310	N	1	B	0.22346	0.068	B	0.12837	0.008	T	0.45249	-0.9274	9	0.13853	T	0.58	.	7.2454	0.26119	0.0:0.0:0.0:1.0	.	523	Q147U1	ZN846_HUMAN	R	523	ENSP00000380999:K523R	ENSP00000380999:K523R	K	-	2	0	ZNF846	9729185	0.000000	0.05858	0.139000	0.22197	0.922000	0.55478	-0.908000	0.04063	0.998000	0.38996	0.374000	0.22700	AAA		0.363	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		C	9868185	T	C	9868185	3	2	409	1	0	0	0	0	1	0	0	0	18192	1841	64	4	37	4	ZNF846	19	9868185	Missense_Mutation	SNP	T	TCGA-57-1993-01A-01W-0699-08		9868185	49260798	35	22398											
ZNF14	7561	broad.mit.edu	37	19	19823594	19823594	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr19:19823594C>T	ENST00000344099.3	-	4	634	c.496G>A	c.(496-498)Gtg>Atg	p.V166M		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	166					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.V166M(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TAGGGCTTCACTCCAGTGTGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	19											130	122	125					19																	19823594		2203	4300	6503	19684594	SO:0001583	missense	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.496G>A	19.37:g.19823594C>T	ENSP00000340514:p.Val166Met		19684594	B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140485	0.21205	.	.	ENSG00000105708	ENST00000344099	T	0.18338	2.22	1.79	0.644	0.17776	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15262	0.0368	L	0.49455	1.56	0.20196	N	0.999927	B	0.21753	0.06	B	0.20955	0.032	T	0.26608	-1.0098	9	0.87932	D	0	.	6.2405	0.20787	0.0:0.8209:0.0:0.1791	.	166	P17017	ZNF14_HUMAN	M	166	ENSP00000340514:V166M	ENSP00000340514:V166M	V	-	1	0	ZNF14	19684594	0.504000	0.26123	0.003000	0.11579	0.021000	0.10359	2.718000	0.47236	0.072000	0.16694	0.460000	0.39030	GTG		0.398	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		T	19823594	C	T	19823594	3	4	409	1	0	0	0	0	1	0	0	0	17728	565	20	2	1436	2	ZNF14	19	19823594	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08	9955409	19823594	39305389	36	22399											
KCNN4	3783	broad.mit.edu	37	19	44284855	44284855	+	Splice_Site	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr19:44284855C>T	ENST00000262888.3	-	1	554	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	53					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.S53S(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCCCACTCACCGAGCACCCCC	0.657																																																1	Substitution - coding silent(1)	ovary(1)	19											115	104	107					19																	44284855		2203	4300	6503	48976695	SO:0001630	splice_region_variant	3783			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.159+1G>A	19.37:g.44284855C>T			48976695	Q53XR4	Silent	SNP	ENST00000262888.3	37	CCDS12630.1																																																																																				0.657	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250	Silent	T	44284855	C	T	44284855	5	4	409	1	0	0	0	0	0	0	1	0	8081	666	23	1	1156	1	KCNN4	19	44284855	Splice_Site	SNP	C	TCGA-57-1993-01A-01W-0699-08	24461261	44284855	14844128	37	22400											
ZC3H4	23211	broad.mit.edu	37	19	47570525	47570525	+	Silent	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr19:47570525C>T	ENST00000253048.5	-	15	3037	c.3000G>A	c.(2998-3000)gcG>gcA	p.A1000A	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1000							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A1000A(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ATTGCAGGGCCGCGGGCACGG	0.736																																																1	Substitution - coding silent(1)	ovary(1)	19											28	33	31					19																	47570525		1941	4100	6041	52262365	SO:0001819	synonymous_variant	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3000G>A	19.37:g.47570525C>T			52262365	Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																				0.736	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			T	47570525	C	T	47570525	2	4	409	1	0	0	0	0	0	0	0	1	17570	639	23	1		1	ZC3H4	19	47570525	Silent	SNP	C	TCGA-57-1993-01A-01W-0699-08	3285670	47570525	11558458	38	22401											
NLRP11	204801	broad.mit.edu	37	19	56307617	56307617	+	Splice_Site	SNP	C	C	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr19:56307617C>A	ENST00000589093.1	-	6	2265		c.e6-1		NLRP11_ENST00000443188.1_Splice_Site|NLRP11_ENST00000360133.3_Splice_Site|NLRP11_ENST00000592953.1_Splice_Site|NLRP11_ENST00000589824.2_Splice_Site			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11								ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTTCATCAAGCTGTAAGAGGA	0.428																																																1	Unknown(1)	ovary(1)	19											72	70	71					19																	56307617		2203	4300	6503	60999429	SO:0001630	splice_region_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2172-1G>T	19.37:g.56307617C>A			60999429	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Splice_Site	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	7.178	0.588922	0.13812	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.35478	D	0.797927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.356	0.32331	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NLRP11	60999429	0.016000	0.18221	0.022000	0.16811	0.014000	0.08584	1.022000	0.30052	1.634000	0.50500	0.655000	0.94253	.		0.428	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	Intron	A	56307617	C	A	56307617	5	1	409	1	0	0	0	0	0	0	1	0	10473	811	28	3	950	3	NLRP11	19	56307617	Splice_Site	SNP	C	TCGA-57-1993-01A-01W-0699-08	8737092	56307617	2821366	39	22402											
CST7	8530	broad.mit.edu	37	20	24937932	24937932	+	Missense_Mutation	SNP	C	C	A	rs369955079		TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr20:24937932C>A	ENST00000480798.1	+	2	356	c.80C>A	c.(79-81)tCc>tAc	p.S27Y	CST7_ENST00000376835.2_Missense_Mutation_p.S49Y	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	27					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)	p.S49Y(1)		large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						GATACTTGTTCCCAGGACCTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	20											273	271	271					20																	24937932		2203	4300	6503	24885932	SO:0001583	missense	8530			AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.80C>A	20.37:g.24937932C>A	ENSP00000420384:p.Ser27Tyr		24885932	Q6FH95|Q7Z4J8|Q9UED4	Missense_Mutation	SNP	ENST00000480798.1	37	CCDS13165.2	.	.	.	.	.	.	.	.	.	.	c	9.694	1.152711	0.21371	.	.	ENSG00000077984	ENST00000480798;ENST00000376835	T;T	0.09255	3.03;3.0	4.28	0.887	0.19200	.	0.225382	0.39341	N	0.001398	T	0.05593	0.0147	L	0.34521	1.04	0.09310	N	1	P	0.48350	0.909	B	0.36845	0.234	T	0.35919	-0.9769	10	0.59425	D	0.04	-24.3586	2.3246	0.04220	0.2277:0.4141:0.0:0.3581	.	27	O76096	CYTF_HUMAN	Y	27;49	ENSP00000420384:S27Y;ENSP00000366031:S49Y	ENSP00000366031:S49Y	S	+	2	0	CST7	24885932	0.000000	0.05858	0.083000	0.20561	0.086000	0.17979	0.025000	0.13577	0.397000	0.25310	0.506000	0.49869	TCC		0.478	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650		A	24937932	C	A	24937932	3	1	409	1	0	0	0	0	1	0	0	0	3977	855	30	3	86	3	CST7	20	24937932	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08		24937932	38087588	40	22403											
ASXL1	171023	broad.mit.edu	37	20	30956917	30956917	+	Silent	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr20:30956917C>T	ENST00000375687.4	+	4	667	c.243C>T	c.(241-243)ttC>ttT	p.F81F	ASXL1_ENST00000375689.1_Silent_p.F77F|ASXL1_ENST00000542461.1_Silent_p.F80F|ASXL1_ENST00000306058.5_Silent_p.F76F|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	81					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.F81F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCAGCCTTTTCACGCTCAAGG	0.458			"F, N, Mis"		"MDS, CMML"																																		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - coding silent(1)	ovary(1)	20											151	132	138					20																	30956917		2203	4300	6503	30420578	SO:0001819	synonymous_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.243C>T	20.37:g.30956917C>T			30420578	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041339	0.19669	.	.	ENSG00000171456	ENST00000497249	.	.	.	5.22	2.16	0.27623	.	.	.	.	.	T	0.55673	0.1935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49322	-0.8952	4	.	.	.	-15.5376	7.8061	0.29202	0.0:0.7173:0.0:0.2827	.	.	.	.	Y	70	.	.	H	+	1	0	ASXL1	30420578	0.982000	0.34865	1.000000	0.80357	0.997000	0.91878	0.135000	0.15952	0.744000	0.32741	0.643000	0.83706	CAC		0.458	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		T	30956917	C	T	30956917	2	4	409	1	0	0	0	0	0	0	0	1	1066	825	29	2		2	ASXL1	20	30956917	Silent	SNP	C	TCGA-57-1993-01A-01W-0699-08	6018985	30956917	32068603	41	22404											
SS18L1	26039	broad.mit.edu	37	20	60749624	60749624	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr20:60749624G>A	ENST00000331758.3	+	10	1114	c.1088G>A	c.(1087-1089)gGc>gAc	p.G363D	SS18L1_ENST00000370848.4_Missense_Mutation_p.G366D|SS18L1_ENST00000421564.1_Missense_Mutation_p.G363D	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	363	Gln-rich.|Necessary for nuclear localization. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)		p.G363D(1)	SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CAAGGCCAAGGCCAGCAGTAC	0.622			T	SSX1	synovial sarcoma																																		Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	1	Substitution - Missense(1)	ovary(1)	20											81	87	85					20																	60749624		2203	4300	6503	60183019	SO:0001583	missense	26039			AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.1088G>A	20.37:g.60749624G>A	ENSP00000333012:p.Gly363Asp		60183019	A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161584	0.78226	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.40476	1.03;1.03;1.03	5.02	5.02	0.67125	.	0.115090	0.64402	D	0.000016	T	0.56046	0.1959	L	0.58101	1.795	0.50632	D	0.999888	D;P	0.61697	0.99;0.954	P;B	0.54856	0.762;0.43	T	0.60845	-0.7182	10	0.87932	D	0	-20.1927	18.6966	0.91603	0.0:0.0:1.0:0.0	.	363;363	B4DSR7;O75177	.;CREST_HUMAN	D	363;363;366	ENSP00000393999:G363D;ENSP00000333012:G363D;ENSP00000359885:G366D	ENSP00000333012:G363D	G	+	2	0	SS18L1	60183019	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.358000	0.97109	2.503000	0.84419	0.491000	0.48974	GGC		0.622	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			A	60749624	G	A	60749624	3	1	409	1	0	0	0	0	1	0	0	0	15178	1203	42	2	1126	2	SS18L1	20	60749624	Missense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08	29792707	60749624	2275896	42	22405											
RNF160	26046	broad.mit.edu	37	21	30324516	30324516	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr21:30324516C>T	ENST00000361371.5	-	18	3389	c.3310G>A	c.(3310-3312)Gat>Aat	p.D1104N	LTN1_ENST00000389194.2_Missense_Mutation_p.D1150N			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1104					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D1104N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTTACTTCATCAGATGAAATG	0.333																																																1	Substitution - Missense(1)	ovary(1)	21											68	71	70					21																	30324516		2202	4300	6502	29246387	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3310G>A	21.37:g.30324516C>T	ENSP00000354977:p.Asp1104Asn		29246387	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	10.93	1.488769	0.26686	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.17854	2.25;2.26	4.97	4.97	0.65823	.	0.548799	0.19249	N	0.118963	T	0.10380	0.0254	N	0.24115	0.695	0.25871	N	0.983705	B	0.17667	0.023	B	0.15870	0.014	T	0.23084	-1.0198	10	0.16896	T	0.51	.	8.5013	0.33159	0.2414:0.6137:0.1449:0.0	.	1104	O94822	LTN1_HUMAN	N	1150;1104	ENSP00000373846:D1150N;ENSP00000354977:D1104N	ENSP00000354977:D1104N	D	-	1	0	LTN1	29246387	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.318000	0.33643	2.729000	0.93468	0.561000	0.74099	GAT		0.333	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		T	30324516	C	T	30324516	3	4	409	1	0	0	0	0	1	0	0	0	13458	826	29	2	2042	2	RNF160	21	30324516	Missense_Mutation	SNP	C	TCGA-57-1993-01A-01W-0699-08		30324516	17805379	43	22406											
NCAPH2	29781	broad.mit.edu	37	22	50960778	50960778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chr22:50960778G>T	ENST00000420993.2	+	15	1362	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*	CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Nonsense_Mutation_p.E414*|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Nonsense_Mutation_p.E414*	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	414					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.E414*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		ACAGGTGGCTGAGCAGTGGCT	0.657																																																1	Substitution - Nonsense(1)	ovary(1)	22											59	63	62					22																	50960778		2203	4300	6503	49307644	SO:0001587	stop_gained	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1240G>T	22.37:g.50960778G>T	ENSP00000410088:p.Glu414*		49307644	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Nonsense_Mutation	SNP	ENST00000420993.2	37	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094683	0.76870	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	5.1	-0.853	0.10709	.	2.754930	0.01518	N	0.018235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.039	4.7686	0.13144	0.3271:0.276:0.3969:0.0	.	.	.	.	X	414	.	ENSP00000299821:E414X	E	+	1	0	NCAPH2	49307644	0.095000	0.21747	0.000000	0.03702	0.041000	0.13682	0.124000	0.15728	-0.315000	0.08703	-0.469000	0.05056	GAG		0.657	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		T	50960778	G	T	50960778	4	4	409	1	0	0	0	0	0	1	0	0	10210	1291	45	3	1337	3	NCAPH2	22	50960778	Nonsense_Mutation	SNP	G	TCGA-57-1993-01A-01W-0699-08		50960778	343788	44	22407											
PGK1	5230	broad.mit.edu	37	X	77369244	77369244	+	Missense_Mutation	SNP	T	T	G			TCGA-57-1993-01A-01W-0699-08	TCGA-57-1993-11A-01W-0700-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2fca611b-92c7-4213-85e7-87d8cbd1f5a5	1f2450f1-fa26-4d9d-8947-7fc7c337ea44	g.chrX:77369244T>G	ENST00000373316.4	+	3	287	c.120T>G	c.(118-120)atT>atG	p.I40M	PGK1_ENST00000537456.1_Missense_Mutation_p.I12M|PGK1_ENST00000442431.1_Missense_Mutation_p.I40M	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	40					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.I40M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GTTGCAGGATTAAGGCTGCTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	X											72	60	64					X																	77369244		2203	4300	6503	77255900	SO:0001583	missense	5230			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.120T>G	X.37:g.77369244T>G	ENSP00000362413:p.Ile40Met		77255900	A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	t	16.71	3.197723	0.58126	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000537456	D;D;D	0.94966	-3.57;-3.57;-3.57	4.91	1.15	0.20763	Phosphoglycerate kinase, N-terminal (1);	0.148828	0.64402	D	0.000017	D	0.96741	0.8936	H	0.95365	3.66	0.37715	D	0.924705	P	0.45396	0.857	P	0.54060	0.741	D	0.95643	0.8700	10	0.87932	D	0	-27.897	7.7866	0.29095	0.0:0.5461:0.0:0.4539	.	40	P00558	PGK1_HUMAN	M	40;40;12	ENSP00000362413:I40M;ENSP00000405452:I40M;ENSP00000444708:I12M	ENSP00000362413:I40M	I	+	3	3	PGK1	77255900	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	0.994000	0.29693	-0.027000	0.13873	-0.291000	0.09656	ATT		0.458	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			G	77369244	T	G	77369244	3	3	409	1	0	0	0	0	1	0	0	0	11790	1742	61	5	130	5	PGK1	23	77369244	Missense_Mutation	SNP	T	TCGA-57-1993-01A-01W-0699-08		77369244	77901316	45	22408											
PDPN	10630	broad.mit.edu	37	1	13937005	13937005	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:13937005T>C	ENST00000509009.1	+	3	354	c.310T>C	c.(310-312)Tcc>Ccc	p.S104P	PDPN_ENST00000376057.4_Missense_Mutation_p.S185P|PDPN_ENST00000513143.1_Missense_Mutation_p.S67P|PDPN_ENST00000475043.1_Missense_Mutation_p.S67P|PDPN_ENST00000487038.1_Missense_Mutation_p.S67P|PDPN_ENST00000294489.6_Missense_Mutation_p.S185P|PDPN_ENST00000376061.4_Missense_Mutation_p.S67P					podoplanin									p.S185P(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CACCAGTCACTCCACGGGTAA	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											87	83	84					1																	13937005		2203	4300	6503	13809592	SO:0001583	missense	10630			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.310T>C	1.37:g.13937005T>C	ENSP00000422977:p.Ser104Pro		13809592		Missense_Mutation	SNP	ENST00000509009.1	37		.	.	.	.	.	.	.	.	.	.	T	10.45	1.353575	0.24512	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.42	-7.06	0.01568	.	0.868320	0.10210	N	0.702226	T	0.26738	0.0654	L	0.52759	1.655	0.09310	N	1	B;B;B;B	0.20550	0.012;0.012;0.046;0.046	B;B;B;B	0.21546	0.026;0.026;0.035;0.035	T	0.22941	-1.0202	10	0.35671	T	0.21	-31.976	2.3985	0.04395	0.2485:0.4097:0.127:0.2149	.	109;67;185;185	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	P	185;185;176;104;67;67;67;67	ENSP00000294489:S185P;ENSP00000365225:S185P;ENSP00000426302:S176P;ENSP00000422977:S104P;ENSP00000365229:S67P;ENSP00000425304:S67P;ENSP00000427537:S67P;ENSP00000426063:S67P	ENSP00000294489:S185P	S	+	1	0	PDPN	13809592	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.260000	0.02858	-1.581000	0.01642	0.533000	0.62120	TCC		0.498	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		C	13937005	T	C	13937005	3	2	410	1	0	0	0	0	1	0	0	0	11688	1551	54	4	563	4	PDPN	1	13937005	Missense_Mutation	SNP	T	TCGA-59-2348-01A-01W-0799-08		13937005	235313616	1	22409											
CSMD2	114784	broad.mit.edu	37	1	34164526	34164526	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:34164526C>A	ENST00000373380.1	-	3	591	c.371G>T	c.(370-372)tGt>tTt	p.C124F	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.C1251F			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1211	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C1211F(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGTCCTCACATTTGATGAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											57	55	55					1																	34164526		2203	4300	6503	33937113	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.371G>T	1.37:g.34164526C>A	ENSP00000362478:p.Cys124Phe		33937113	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.476535	0.84640	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	D;D	0.99784	-6.74;-6.74	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99908	0.9956	H	0.99619	4.66	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.997	D;D;D	0.73708	0.945;0.981;0.974	D	0.96272	0.9199	10	0.87932	D	0	.	19.3155	0.94211	0.0:1.0:0.0:0.0	.	124;1211;1251	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	F	1251;124	ENSP00000362479:C1251F;ENSP00000362478:C124F	ENSP00000241312:C1211F	C	-	2	0	CSMD2	33937113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.879000	0.98667	0.650000	0.86243	TGT		0.512	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		A	34164526	C	A	34164526	3	1	410	1	0	0	0	0	1	0	0	0	3945	478	17	3	7015	3	CSMD2	1	34164526	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	20227521	34164526	215086095	2	22410											
ZNF643	65243	broad.mit.edu	37	1	40923075	40923075	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:40923075C>G	ENST00000411995.2	+	5	775	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V	ZFP69B_ENST00000484445.1_Missense_Mutation_p.A105G|ZFP69B_ENST00000361584.3_Missense_Mutation_p.L32V	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	134	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.L32V(1)									AGAACCATGGCTGATGGAGAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											108	104	106					1																	40923075		2203	4300	6503	40695662	SO:0001583	missense	65243			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.400C>G	1.37:g.40923075C>G	ENSP00000399664:p.Leu134Val		40695662	Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	CCDS452.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.89|13.89	2.373288|2.373288	0.42105|0.42105	.|.	.|.	ENSG00000187801|ENSG00000187801	ENST00000484445|ENST00000431552;ENST00000411995;ENST00000361584	.|T;T	.|0.08008	.|3.56;3.14	3.4|3.4	-0.938|-0.938	0.10412|0.10412	.|Krueppel-associated box (2);	.|.	.|.	.|.	.|.	T|T	0.02970|0.02970	0.0088|0.0088	N|N	0.04043|0.04043	-0.29|-0.29	0.20873|0.20873	N|N	0.999832|0.999832	.|B	.|0.26195	.|0.144	.|B	.|0.18263	.|0.021	T|T	0.42258|0.42258	-0.9462|-0.9462	6|9	0.49607|0.36615	T|T	0.09|0.2	.|.	2.751|2.751	0.05281|0.05281	0.3564:0.3253:0.0:0.3183|0.3564:0.3253:0.0:0.3183	.|.	.|134	.|Q9UJL9	.|ZN643_HUMAN	G|V	105|65;134;32	.|ENSP00000399664:L134V;ENSP00000354547:L32V	ENSP00000435907:A105G|ENSP00000354547:L32V	A|L	+|+	2|1	0|2	ZNF643|ZNF643	40695662|40695662	0.006000|0.006000	0.16342|0.16342	0.446000|0.446000	0.26920|0.26920	0.549000|0.549000	0.35272|0.35272	-0.217000|-0.217000	0.09253|0.09253	-0.179000|-0.179000	0.10654|0.10654	-0.794000|-0.794000	0.03295|0.03295	GCT|CTG		0.488	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		G	40923075	C	G	40923075	3	3	410	1	0	0	0	0	1	0	0	0	18059	796	28	3	414	3	ZNF643	1	40923075	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	6758549	40923075	208327546	3	22411											
C1orf168	199920	broad.mit.edu	37	1	57206386	57206386	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:57206386A>G	ENST00000343433.6	-	13	1767	c.1687T>C	c.(1687-1689)Tcg>Ccg	p.S563P	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	563								p.S563P(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTTTCTTTCGACTTGGTTTTC	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											109	101	103					1																	57206386		2203	4298	6501	56978974	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1687T>C	1.37:g.57206386A>G	ENSP00000345972:p.Ser563Pro		56978974	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	A	8.104	0.777312	0.16120	.	.	ENSG00000187889	ENST00000343433	T	0.35421	1.31	4.1	0.41	0.16387	.	0.866965	0.09770	N	0.758063	T	0.22003	0.0530	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.28490	-1.0042	10	0.22109	T	0.4	0.2002	2.7711	0.05335	0.6012:0.0:0.2105:0.1884	.	563	Q5VWT5	CA168_HUMAN	P	563	ENSP00000345972:S563P	ENSP00000345972:S563P	S	-	1	0	C1orf168	56978974	0.998000	0.40836	0.085000	0.20634	0.953000	0.61014	0.905000	0.28504	0.046000	0.15833	0.460000	0.39030	TCG		0.363	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		G	57206386	A	G	57206386	3	3	410	1	0	0	0	0	1	0	0	0	2012	275	10	4	531	4	C1orf168	1	57206386	Missense_Mutation	SNP	A	TCGA-59-2348-01A-01W-0799-08	16283311	57206386	192044235	4	22412											
GIPC2	54810	broad.mit.edu	37	1	78546423	78546423	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:78546423G>A	ENST00000370759.3	+	2	498	c.305G>A	c.(304-306)gGa>gAa	p.G102E	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	102						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G102E(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GGACAACTAGGACTAGAAGAT	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											137	140	139					1																	78546423		2203	4300	6503	78319011	SO:0001583	missense	54810			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"semaphorin cytoplasmic domain associated protein 2"					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.305G>A	1.37:g.78546423G>A	ENSP00000359795:p.Gly102Glu		78319011	Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463592	0.63513	.	.	ENSG00000137960	ENST00000370759	T	0.38887	1.11	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57528	-0.7796	10	0.51188	T	0.08	-3.009	20.8598	0.99761	0.0:0.0:1.0:0.0	.	102	Q8TF65	GIPC2_HUMAN	E	102	ENSP00000359795:G102E	ENSP00000359795:G102E	G	+	2	0	GIPC2	78319011	1.000000	0.71417	0.990000	0.47175	0.021000	0.10359	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GGA		0.353	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		A	78546423	G	A	78546423	3	1	410	1	0	0	0	0	1	0	0	0	6393	1174	41	2	311	2	GIPC2	1	78546423	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	21340037	78546423	170704198	5	22413											
GTF2B	2959	broad.mit.edu	37	1	89325691	89325691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:89325691G>A	ENST00000370500.5	-	5	527	c.409C>T	c.(409-411)Cga>Tga	p.R137*	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	137					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R137*(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TTATTTGTTCGATCCTTCAAA	0.343																																																1	Substitution - Nonsense(1)	ovary(1)	1											132	134	133					1																	89325691		2203	4300	6503	89098279	SO:0001587	stop_gained	2959			M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"General transcription factors"	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.409C>T	1.37:g.89325691G>A	ENSP00000359531:p.Arg137*		89098279	A8K1A7|Q5JS30	Nonsense_Mutation	SNP	ENST00000370500.5	37	CCDS715.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297907	0.81025	.	.	ENSG00000137947	ENST00000370500;ENST00000448623;ENST00000418217	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	15.9647	19.7434	0.96241	0.0:0.0:1.0:0.0	.	.	.	.	X	137;136;132	.	ENSP00000359531:R137X	R	-	1	2	GTF2B	89098279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.015000	0.70791	2.716000	0.92895	0.591000	0.81541	CGA		0.343	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		A	89325691	G	A	89325691	4	1	410	1	0	0	0	0	0	1	0	0	6855	1066	37	1	553	1	GTF2B	1	89325691	Nonsense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	10779268	89325691	159924930	6	22414											
LRRC8B	23507	broad.mit.edu	37	1	90049602	90049602	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:90049602C>G	ENST00000330947.2	+	5	1753	c.1393C>G	c.(1393-1395)Ctc>Gtc	p.L465V	LRRC8B_ENST00000439853.1_Missense_Mutation_p.L465V|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.L465V	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	465					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L465F(1)|p.L465V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GCTGGTCAACCTCAAGGAGCT	0.473																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											51	51	51					1																	90049602		2203	4300	6503	89822190	SO:0001583	missense	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1393C>G	1.37:g.90049602C>G	ENSP00000332674:p.Leu465Val		89822190	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465050	0.63513	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.03212	4.01;4.01;4.01	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000004	T	0.17746	0.0426	M	0.89030	3	0.58432	D	0.999999	D	0.63880	0.993	D	0.73708	0.981	T	0.02087	-1.1216	10	0.72032	D	0.01	.	19.3297	0.94281	0.0:1.0:0.0:0.0	.	465	Q6P9F7	LRC8B_HUMAN	V	465	ENSP00000332674:L465V;ENSP00000350933:L465V;ENSP00000400704:L465V	ENSP00000332674:L465V	L	+	1	0	LRRC8B	89822190	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.764000	0.85297	2.625000	0.88918	0.655000	0.94253	CTC		0.473	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		G	90049602	C	G	90049602	3	3	410	1	0	0	0	0	1	0	0	0	9022	681	24	3	1395	3	LRRC8B	1	90049602	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	723911	90049602	159201019	7	22415											
LRRC8D	55144	broad.mit.edu	37	1	90399924	90399924	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:90399924C>A	ENST00000337338.5	+	3	1704	c.1297C>A	c.(1297-1299)Cgt>Agt	p.R433S	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R433S	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	433					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R433S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ATATTCCAAGCGTTTTGGTGT	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											75	74	74					1																	90399924		2203	4300	6503	90172512	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1297C>A	1.37:g.90399924C>A	ENSP00000338887:p.Arg433Ser		90172512	D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009005	0.54361	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.29397	1.57;1.57	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03249	-1.1056	9	.	.	.	.	13.9423	0.64064	0.2666:0.7334:0.0:0.0	.	433	Q7L1W4	LRC8D_HUMAN	S	433	ENSP00000338887:R433S;ENSP00000378093:R433S	.	R	+	1	0	LRRC8D	90172512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.437000	0.44828	2.698000	0.92095	0.655000	0.94253	CGT		0.393	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		A	90399924	C	A	90399924	3	1	410	1	0	0	0	0	1	0	0	0	9024	768	27	3	1299	3	LRRC8D	1	90399924	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	350322	90399924	158850697	8	22416											
TMED5	50999	broad.mit.edu	37	1	93645704	93645704	+	Silent	SNP	G	G	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:93645704G>C	ENST00000370282.3	-	1	581	c.96C>G	c.(94-96)ctC>ctG	p.L32L	CCDC18_ENST00000338949.4_5'Flank|CCDC18_ENST00000557479.1_5'Flank|TMED5_ENST00000370280.1_Silent_p.L32L|TMED5_ENST00000479918.1_Silent_p.L32L|CCDC18_ENST00000343253.7_5'UTR|CCDC18_ENST00000401026.3_5'Flank|CCDC18_ENST00000334652.5_5'Flank	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	32					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L32L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		AGTCGCTATCGAGGGAAGGTG	0.637																																																1	Substitution - coding silent(1)	ovary(1)	1											70	72	71					1																	93645704		2203	4300	6503	93418292	SO:0001819	synonymous_variant	50999			BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.96C>G	1.37:g.93645704G>C			93418292	B1AKT4|B2R703|D3DT38|Q96AX8	Silent	SNP	ENST00000370282.3	37	CCDS743.1																																																																																				0.637	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		C	93645704	G	C	93645704	2	2	410	1	0	0	0	0	0	0	0	1	16007	1045	37	3		3	TMED5	1	93645704	Silent	SNP	G	TCGA-59-2348-01A-01W-0799-08	3245780	93645704	155604917	9	22417											
KIAA1324	57535	broad.mit.edu	37	1	109707161	109707161	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:109707161C>A	ENST00000369939.3	+	3	498	c.315C>A	c.(313-315)gaC>gaA	p.D105E	KIAA1324_ENST00000529753.1_Missense_Mutation_p.D105E	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	105					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.D105E(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ATATGAAGGACCAGTCATGTA	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											126	123	124					1																	109707161		2203	4300	6503	109508684	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.315C>A	1.37:g.109707161C>A	ENSP00000358955:p.Asp105Glu		109508684	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000761	0.54254	.	.	ENSG00000116299	ENST00000531664;ENST00000534476;ENST00000526264;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T;T;D	0.97480	0.94;1.53;0.94;1.46;1.46;-4.4	6.04	0.789	0.18607	.	0.530450	0.22284	N	0.062083	T	0.79919	0.4529	N	0.12182	0.205	0.23991	N	0.996242	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.74137	-0.3762	10	0.13108	T	0.6	-16.3277	4.3	0.10920	0.1448:0.3261:0.3977:0.1314	.	105;105;105;105	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	E	105	ENSP00000431349:D105E;ENSP00000432164:D105E;ENSP00000435066:D105E;ENSP00000358955:D105E;ENSP00000393964:D105E;ENSP00000434595:D105E	ENSP00000358955:D105E	D	+	3	2	KIAA1324	109508684	0.343000	0.24818	0.999000	0.59377	0.918000	0.54935	-0.285000	0.08410	0.123000	0.18342	0.561000	0.74099	GAC		0.582	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		A	109707161	C	A	109707161	3	1	410	1	0	0	0	0	1	0	0	0	8223	506	18	3	325	3	KIAA1324	1	109707161	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	16061457	109707161	139543460	10	22418											
MOV10	4343	broad.mit.edu	37	1	113236720	113236720	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:113236720G>T	ENST00000413052.2	+	8	1611	c.1221G>T	c.(1219-1221)caG>caT	p.Q407H	MOV10_ENST00000369645.1_Missense_Mutation_p.Q407H|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.Q351H|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.Q407H	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	407					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.Q407H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGACACACCAGGAGGACCCCA	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											136	129	132					1																	113236720		2203	4300	6503	113038243	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1221G>T	1.37:g.113236720G>T	ENSP00000399797:p.Gln407His		113038243	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612510	0.28712	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.87	1.96	0.26148	.	0.821195	0.11586	N	0.549209	T	0.67116	0.2859	N	0.08118	0	0.22342	N	0.999187	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.001	T	0.59810	-0.7384	10	0.41790	T	0.15	-6.4361	6.4351	0.21819	0.0726:0.1313:0.6598:0.1363	.	351;407;407	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	H	407;407;407;351;407;345	ENSP00000399797:Q407H;ENSP00000358659:Q407H;ENSP00000358658:Q351H;ENSP00000350028:Q407H	ENSP00000285733:Q407H	Q	+	3	2	MOV10	113038243	0.006000	0.16342	0.938000	0.37757	0.864000	0.49448	0.829000	0.27449	0.259000	0.21709	-0.310000	0.09108	CAG		0.567	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		T	113236720	G	T	113236720	3	4	410	1	0	0	0	0	1	0	0	0	9718	991	35	3	1247	3	MOV10	1	113236720	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	3529559	113236720	136013901	11	22419											
ADAR	103	broad.mit.edu	37	1	154574369	154574369	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:154574369G>A	ENST00000368474.4	-	2	948	c.749C>T	c.(748-750)gCt>gTt	p.A250V	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.A293V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	250					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A250V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCAAGCCTGAGCTGAGACTGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	1											121	124	123					1																	154574369		2203	4300	6503	152840993	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.749C>T	1.37:g.154574369G>A	ENSP00000357459:p.Ala250Val		152840993	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933122	0.34096	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.12569	2.67;2.68;2.71	2.09	-4.17	0.03857	.	1.204520	0.07030	U	0.828319	T	0.01592	0.0051	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45789	-0.9237	10	0.29301	T	0.29	.	2.574	0.04801	0.5054:0.0:0.2903:0.2043	.	250;250;250	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	V	293;250;245	ENSP00000292205:A293V;ENSP00000357459:A250V;ENSP00000431794:A245V	ENSP00000292205:A293V	A	-	2	0	ADAR	152840993	0.659000	0.27411	0.140000	0.22221	0.142000	0.21351	1.720000	0.38022	-1.131000	0.02910	-0.339000	0.08088	GCT		0.517	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		A	154574369	G	A	154574369	3	1	410	1	0	0	0	0	1	0	0	0	281	971	34	2	2987	2	ADAR	1	154574369	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	41337649	154574369	94676252	12	22420											
THBS3	7059	broad.mit.edu	37	1	155172631	155172631	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:155172631T>C	ENST00000368378.3	-	8	949	c.929A>G	c.(928-930)aAc>aGc	p.N310S	THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.N190S|THBS3_ENST00000486260.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	310					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.N310S(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			GTGGGTGCCGTTGCCCTGCAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											56	59	58					1																	155172631		2203	4300	6503	153439255	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.929A>G	1.37:g.155172631T>C	ENSP00000357362:p.Asn310Ser		153439255	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359853	0.82353	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	T;T;T	0.34859	1.34;1.34;1.34	5.13	5.13	0.70059	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.30541	0.0768	M	0.79475	2.455	0.58432	D	0.999999	P;P;P;P	0.41313	0.745;0.745;0.745;0.745	B;B;B;B	0.39419	0.299;0.299;0.299;0.299	T	0.37549	-0.9701	10	0.87932	D	0	-32.866	13.1963	0.59740	0.0:0.0:0.0:1.0	.	190;310;310;310	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	S	310;190;160	ENSP00000357362:N310S;ENSP00000392207:N190S;ENSP00000404040:N160S	ENSP00000357362:N310S	N	-	2	0	THBS3	153439255	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	7.825000	0.86693	2.279000	0.76181	0.533000	0.62120	AAC		0.622	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		C	155172631	T	C	155172631	3	2	410	1	0	0	0	0	1	0	0	0	15855	1725	60	4	2005	4	THBS3	1	155172631	Missense_Mutation	SNP	T	TCGA-59-2348-01A-01W-0799-08	598262	155172631	94077990	13	22421											
ASPM	259266	broad.mit.edu	37	1	197115270	197115270	+	Splice_Site	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:197115270C>A	ENST00000367409.4	-	1	554		c.e1+1		ASPM_ENST00000294732.7_Splice_Site	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.?(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGAGACCTACCTGCAACACG	0.577																																																1	Unknown(1)	ovary(1)	1											83	82	83					1																	197115270		2203	4300	6503	195381893	SO:0001630	splice_region_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.297+1G>T	1.37:g.197115270C>A			195381893	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Splice_Site	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093319	0.36952	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367406	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0847	0.72142	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASPM	195381893	1.000000	0.71417	0.856000	0.33681	0.235000	0.25334	4.881000	0.63114	2.179000	0.69175	0.561000	0.74099	.		0.577	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	Intron	A	197115270	C	A	197115270	5	1	410	1	0	0	0	0	0	0	1	0	1056	521	18	3	10247	3	ASPM	1	197115270	Splice_Site	SNP	C	TCGA-59-2348-01A-01W-0799-08	41942639	197115270	52135351	14	22422											
CDC42BPA	8476	broad.mit.edu	37	1	227222460	227222460	+	Silent	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr1:227222460C>T	ENST00000366769.3	-	25	4558	c.3267G>A	c.(3265-3267)caG>caA	p.Q1089Q	CDC42BPA_ENST00000535525.1_Silent_p.Q1069Q|CDC42BPA_ENST00000366766.2_Silent_p.Q1124Q|CDC42BPA_ENST00000334218.5_Silent_p.Q1089Q|CDC42BPA_ENST00000366765.3_Silent_p.Q1102Q|CDC42BPA_ENST00000366767.3_Silent_p.Q1008Q|CDC42BPA_ENST00000366764.2_Silent_p.Q1061Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.Q1008Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CCAGTGCTCTCTGCCACCCTT	0.398																																																1	Substitution - coding silent(1)	ovary(1)	1											159	143	148					1																	227222460		2203	4300	6503	225289083	SO:0001819	synonymous_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3267G>A	1.37:g.227222460C>T			225289083		Silent	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	9.705	1.155647	0.21454	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725	.	.	.	5.81	-7.45	0.01374	.	.	.	.	.	T	0.73024	0.3534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75271	-0.3376	4	.	.	.	.	21.8185	0.99961	0.0:0.8672:0.0:0.1328	.	.	.	.	K	292;418;314	.	.	E	-	1	0	CDC42BPA	225289083	0.598000	0.26882	0.882000	0.34594	0.976000	0.68499	-0.091000	0.11146	-1.027000	0.03325	-0.300000	0.09419	GAG		0.398	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		T	227222460	C	T	227222460	2	4	410	1	0	0	0	0	0	0	0	1	3072	912	32	2		2	CDC42BPA	1	227222460	Silent	SNP	C	TCGA-59-2348-01A-01W-0799-08	30107190	227222460	22028161	15	22423											
NPAS2	4862	broad.mit.edu	37	2	101580581	101580581	+	Silent	SNP	A	A	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr2:101580581A>G	ENST00000335681.5	+	8	945	c.660A>G	c.(658-660)ctA>ctG	p.L220L	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Silent_p.L285L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	220					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L220L(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGTGCCACTAGGAAAGGAGG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	2											126	116	120					2																	101580581		2203	4300	6503	100947013	SO:0001819	synonymous_variant	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.660A>G	2.37:g.101580581A>G			100947013	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	CCDS2048.1																																																																																				0.512	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			G	101580581	A	G	101580581	2	3	410	1	0	0	0	0	0	0	0	1	10563	407	15	4		4	NPAS2	2	101580581	Silent	SNP	A	TCGA-59-2348-01A-01W-0799-08		101580581	141618792	16	22424											
CACNB4	785	broad.mit.edu	37	2	152728962	152728962	+	Silent	SNP	A	A	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr2:152728962A>T	ENST00000539935.1	-	6	634	c.567T>A	c.(565-567)tcT>tcA	p.S189S	CACNB4_ENST00000534999.1_Silent_p.S155S|CACNB4_ENST00000427385.1_Silent_p.S171S|CACNB4_ENST00000397327.2_Silent_p.S142S|CACNB4_ENST00000201943.5_Silent_p.S189S|CACNB4_ENST00000360283.6_Silent_p.S155S	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	189					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.S189S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAATGTCCCAGATACCATTT	0.363																																																1	Substitution - coding silent(1)	ovary(1)	2											118	117	118					2																	152728962		1829	4086	5915	152437208	SO:0001819	synonymous_variant	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.567T>A	2.37:g.152728962A>T			152437208	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	CCDS46426.1																																																																																				0.363	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		T	152728962	A	T	152728962	2	4	410	1	0	0	0	0	0	0	0	1	2555	175	7	5		5	CACNB4	2	152728962	Silent	SNP	A	TCGA-59-2348-01A-01W-0799-08	51148381	152728962	90470411	17	22425											
TTN	7273	broad.mit.edu	37	2	179612115	179612115	+	Intron	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr2:179612115G>A	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Silent_p.D5004D|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D5004D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAATATAAGTCAGGGGACT	0.368																																																1	Substitution - coding silent(1)	ovary(1)	2											60	66	64					2																	179612115		2201	4297	6498	179320360	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5467C>T	2.37:g.179612115G>A			179320360	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179612115	G	A	179612115	1	1	410	0	1	0	0	0	0	0	0	0	16735	1020	36	2		2	TTN	2	179612115	Intron	SNP	G	TCGA-59-2348-01A-01W-0799-08	26883153	179612115	63587258	18	22426											
CPNE9	151835	broad.mit.edu	37	3	9760228	9760228	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr3:9760228C>T	ENST00000383832.3	+	17	1373	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	CPNE9_ENST00000383831.3_Missense_Mutation_p.R395C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	395	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R395C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCAGAGCCTGCGCACAGTGCA	0.567																																																1	Substitution - Missense(1)	ovary(1)	3											108	108	108					3																	9760228		2007	4178	6185	9735228	SO:0001583	missense	151835				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1183C>T	3.37:g.9760228C>T	ENSP00000373343:p.Arg395Cys		9735228	A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210425	0.79240	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.24350	1.86;1.86	5.44	5.44	0.79542	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	M	0.81179	2.53	0.80722	D	1	D	0.71674	0.998	P	0.62382	0.901	T	0.54282	-0.8317	9	.	.	.	.	18.8695	0.92308	0.0:1.0:0.0:0.0	.	395	Q8IYJ1	CPNE9_HUMAN	C	395	ENSP00000373343:R395C;ENSP00000373342:R395C	.	R	+	1	0	CPNE9	9735228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.589000	0.36644	2.533000	0.85409	0.579000	0.79373	CGC		0.567	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		T	9760228	C	T	9760228	3	4	410	1	0	0	0	0	1	0	0	0	3819	768	27	1	1245	1	CPNE9	3	9760228	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08		9760228	188262202	19	22427											
HDAC11	79885	broad.mit.edu	37	3	13538271	13538271	+	Silent	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr3:13538271C>T	ENST00000295757.3	+	4	471	c.288C>T	c.(286-288)ccC>ccT	p.P96P	HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000437379.2_Silent_p.P68P|HDAC11_ENST00000433119.1_Silent_p.P68P|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000446613.2_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	96	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)	p.P96P(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CAGAAATCCCCCCCGTTATCT	0.587											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	3											94	91	92					3																	13538271		2203	4300	6503	13513271	SO:0001819	synonymous_variant	79885			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.288C>T	3.37:g.13538271C>T		688	13513271	B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Silent	SNP	ENST00000295757.3	37	CCDS2615.1																																																																																				0.587	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		T	13538271	C	T	13538271	2	4	410	1	0	0	0	0	0	0	0	1	7006	610	22	2		2	HDAC11	3	13538271	Silent	SNP	C	TCGA-59-2348-01A-01W-0799-08	3778043	13538271	184484159	20	22428											
MST1R	4486	broad.mit.edu	37	3	49932680	49932680	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr3:49932680G>C	ENST00000296474.3	-	14	3218	c.3191C>G	c.(3190-3192)tCt>tGt	p.S1064C	MST1R_ENST00000344206.4_Missense_Mutation_p.S1015C	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1064					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.S1064C(1)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAGAGCGCAGAGTCCAGGTC	0.577																																																1	Substitution - Missense(1)	ovary(1)	3											187	185	186					3																	49932680		2203	4300	6503	49907684	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3191C>G	3.37:g.49932680G>C	ENSP00000296474:p.Ser1064Cys		49907684	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.526373|4.526373	0.85600|0.85600	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000440292|ENST00000296474;ENST00000344206	.|T;T	.|0.08546	.|3.08;3.08	5.84|5.84	4.02|4.02	0.46733|0.46733	.|Protein kinase-like domain (1);	.|0.416320	.|0.30658	.|N	.|0.009147	T|T	0.11281|0.11281	0.0275|0.0275	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|P	.|0.52692	.|0.955	.|B	.|0.42319	.|0.383	T|T	0.08310|0.08310	-1.0728|-1.0728	5|10	.|0.87932	.|D	.|0	-0.5334|-0.5334	12.1313|12.1313	0.53944|0.53944	0.0:0.1301:0.7344:0.1355|0.0:0.1301:0.7344:0.1355	.|.	.|1064	.|Q04912	.|RON_HUMAN	V|C	85|1064;1015	.|ENSP00000296474:S1064C;ENSP00000341325:S1015C	.|ENSP00000296474:S1064C	L|S	-|-	1|2	2|0	MST1R|MST1R	49907684|49907684	0.944000|0.944000	0.32072|0.32072	0.001000|0.001000	0.08648|0.08648	0.622000|0.622000	0.37654|0.37654	5.448000|5.448000	0.66612|0.66612	0.793000|0.793000	0.33875|0.33875	0.561000|0.561000	0.74099|0.74099	CTG|TCT		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			C	49932680	G	C	49932680	3	2	410	1	0	0	0	0	1	0	0	0	9891	942	33	3	1039	3	MST1R	3	49932680	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	36394409	49932680	148089750	21	22429											
LRRC33	375387	broad.mit.edu	37	3	196387726	196387726	+	Silent	SNP	G	G	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr3:196387726G>C	ENST00000328557.4	+	3	1415	c.1212G>C	c.(1210-1212)ctG>ctC	p.L404L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	404					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L404L(1)									TGGGCAGCCTGCGCTTGTTCA	0.642																																																1	Substitution - coding silent(1)	ovary(1)	3											54	59	57					3																	196387726		2203	4300	6503	197872123	SO:0001819	synonymous_variant	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1212G>C	3.37:g.196387726G>C			197872123		Silent	SNP	ENST00000328557.4	37	CCDS3319.1																																																																																				0.642	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		C	196387726	G	C	196387726	2	2	410	1	0	0	0	0	0	0	0	1	8988	1306	46	3		3	LRRC33	3	196387726	Silent	SNP	G	TCGA-59-2348-01A-01W-0799-08	146455046	196387726	1634704	22	22430											
APBB2	323	broad.mit.edu	37	4	40829237	40829237	+	Splice_Site	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr4:40829237C>T	ENST00000295974.8	-	14	2271		c.e14-1		Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000504305.1_Splice_Site|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Splice_Site|APBB2_ENST00000508593.1_Splice_Site|APBB2_ENST00000543538.1_Splice_Site|APBB2_ENST00000502841.1_Splice_Site|APBB2_ENST00000513140.1_Splice_Site	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2						axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CAGCCATAATCTAAGGGGGAA	0.502																																					Ovarian(3;20 75 16686 49997)											1	Unknown(1)	ovary(1)	4											121	120	120					4																	40829237		1964	4148	6112	40523994	SO:0001630	splice_region_variant	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1642-1G>A	4.37:g.40829237C>T			40523994	B4DSL4|E9PG87|Q8IUI6	Splice_Site	SNP	ENST00000295974.8	37	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046215	0.75846	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000513611;ENST00000508593;ENST00000506352;ENST00000512510;ENST00000513493	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	APBB2	40523994	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.487000	0.81328	2.797000	0.96272	0.563000	0.77884	.		0.502	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075	Intron	T	40829237	C	T	40829237	5	4	410	1	0	0	0	0	0	0	1	0	761	927	32	2	655	2	APBB2	4	40829237	Splice_Site	SNP	C	TCGA-59-2348-01A-01W-0799-08		40829237	150325039	23	22431											
PHOX2B	8929	broad.mit.edu	37	4	41749461	41749461	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr4:41749461C>G	ENST00000226382.2	-	2	693	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	112					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.E112Q(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTTTCCAGCTCTTTGAGCTGG	0.592			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	1	Substitution - Missense(1)	ovary(1)	4											68	73	71					4																	41749461		2203	4300	6503	41444218	SO:0001583	missense	8929	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.334G>C	4.37:g.41749461C>G	ENSP00000226382:p.Glu112Gln		41444218	Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	CCDS3463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.37|17.37	3.373075|3.373075	0.61624|0.61624	.|.	.|.	ENSG00000109132|ENSG00000109132	ENST00000226382|ENST00000510424	D|D	0.96619|0.96232	-4.07|-3.95	5.4|5.4	5.4|5.4	0.78164|0.78164	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.96772|0.96772	0.8946|0.8946	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.96048|0.96048	0.9029|0.9029	10|7	0.66056|0.42905	D|T	0.02|0.14	.|.	19.366|19.366	0.94461|0.94461	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	112|.	Q99453|.	PHX2B_HUMAN|.	Q|N	112|51	ENSP00000226382:E112Q|ENSP00000426733:K51N	ENSP00000226382:E112Q|ENSP00000426733:K51N	E|K	-|-	1|3	0|2	PHOX2B|PHOX2B	41444218|41444218	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.807000|0.807000	0.45602|0.45602	7.599000|7.599000	0.82757|0.82757	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.592	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			G	41749461	C	G	41749461	3	3	410	1	0	0	0	0	1	0	0	0	11859	922	32	3	618	3	PHOX2B	4	41749461	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	920224	41749461	149404815	24	22432											
ELF2	1998	broad.mit.edu	37	4	139980194	139980194	+	Silent	SNP	T	T	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr4:139980194T>C	ENST00000394235.2	-	10	2191	c.1689A>G	c.(1687-1689)tcA>tcG	p.S563S	ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Silent_p.S563S|ELF2_ENST00000379549.2_Silent_p.S486S|ELF2_ENST00000379550.1_Silent_p.S575S|ELF2_ENST00000510408.1_Silent_p.S503S|ELF2_ENST00000358635.3_Silent_p.S515S	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.S563S(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GGGCAATAGCTGAAGGCGCAC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	4											132	132	132					4																	139980194		2203	4300	6503	140199644	SO:0001819	synonymous_variant	1998			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1689A>G	4.37:g.139980194T>C			140199644		Silent	SNP	ENST00000394235.2	37	CCDS3744.1																																																																																				0.433	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		C	139980194	T	C	139980194	2	2	410	1	0	0	0	0	0	0	0	1	5054	1567	55	4		4	ELF2	4	139980194	Silent	SNP	T	TCGA-59-2348-01A-01W-0799-08	98230733	139980194	51174082	25	22433											
ACCN5	51802	broad.mit.edu	37	4	156784635	156784635	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr4:156784635C>A	ENST00000537611.2	-	2	358	c.312G>T	c.(310-312)atG>atT	p.M104I	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	104					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.M104I(1)									CTGGGAACTCCATCTTTTCCA	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											74	65	68					4																	156784635		2203	4300	6503	157004085	SO:0001583	missense	51802			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.312G>T	4.37:g.156784635C>A	ENSP00000442477:p.Met104Ile		157004085		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	3.244	-0.154782	0.06544	.	.	ENSG00000256394	ENST00000537611	T	0.62498	0.02	4.34	-5.59	0.02505	.	0.278282	0.29073	N	0.013221	T	0.17789	0.0427	N	0.00894	-1.105	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32375	-0.9909	10	0.05833	T	0.94	-15.9997	4.3161	0.10993	0.3461:0.1053:0.4521:0.0965	.	104	Q9NY37	ACCN5_HUMAN	I	104	ENSP00000442477:M104I	ENSP00000264432:M104I	M	-	3	0	ACCN5	157004085	0.217000	0.23597	0.979000	0.43373	0.998000	0.95712	-0.868000	0.04236	-0.759000	0.04684	0.650000	0.86243	ATG		0.363	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			A	156784635	C	A	156784635	3	1	410	1	0	0	0	0	1	0	0	0	132	594	21	3	1241	3	ACCN5	4	156784635	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	16804441	156784635	34369641	26	22434											
NR3C1	2908	broad.mit.edu	37	5	142661473	142661473	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr5:142661473A>G	ENST00000343796.2	-	9	3308	c.2315T>C	c.(2314-2316)cTt>cCt	p.L772P	NR3C1_ENST00000394464.2_Missense_Mutation_p.L772P|NR3C1_ENST00000424646.2_Missense_Mutation_p.L746P|NR3C1_ENST00000416954.2_Missense_Mutation_p.L375P|NR3C1_ENST00000231509.3_Missense_Mutation_p.L773P|NR3C1_ENST00000504572.1_Missense_Mutation_p.L773P|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000503201.1_Missense_Mutation_p.L772P|NR3C1_ENST00000394466.2_Missense_Mutation_p.L773P	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	772	Interaction with CLOCK.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.L773P(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	ATGAAACAGAAGTTTTTTGAT	0.318																																																1	Substitution - Missense(1)	ovary(1)	5											87	90	89					5																	142661473		2202	4300	6502	142641666	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2315T>C	5.37:g.142661473A>G	ENSP00000343205:p.Leu772Pro		142641666	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593056	0.66219	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	5.93	5.93	0.95920	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97948	1.0330	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	772;773	P04150;E5KQF6	GCR_HUMAN;.	P	772;772;588;746;773;773;773;375;772	ENSP00000377977:L772P;ENSP00000343205:L772P;ENSP00000405282:L746P;ENSP00000422518:L773P;ENSP00000377979:L773P;ENSP00000231509:L773P;ENSP00000404218:L375P;ENSP00000427672:L772P	ENSP00000231509:L773P	L	-	2	0	NR3C1	142641666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	CTT		0.318	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			G	142661473	A	G	142661473	3	3	410	1	0	0	0	0	1	0	0	0	10630	72	3	4	74	4	NR3C1	5	142661473	Missense_Mutation	SNP	A	TCGA-59-2348-01A-01W-0799-08		142661473	38253787	27	22435											
CARD11	84433	broad.mit.edu	37	7	2962385	2962385	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr7:2962385A>C	ENST00000396946.4	-	17	2555	c.2152T>G	c.(2152-2154)Tgc>Ggc	p.C718G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	718	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.C711G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCTCGGATGCAGCCTTCTAGC	0.602			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - Missense(1)	ovary(1)	7											107	73	84					7																	2962385		2203	4300	6503	2928911	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2152T>G	7.37:g.2962385A>C	ENSP00000380150:p.Cys718Gly		2928911	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	A	8.397	0.841125	0.16891	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.30448	1.53;2.51	5.14	5.14	0.70334	PDZ/DHR/GLGF (2);	0.162006	0.56097	D	0.000025	T	0.14743	0.0356	N	0.08118	0	0.42015	D	0.990951	B	0.19200	0.034	B	0.18561	0.022	T	0.11397	-1.0589	10	0.10377	T	0.69	-20.4557	11.3402	0.49529	0.8643:0.0:0.0:0.1357	.	718	Q9BXL7	CAR11_HUMAN	G	718;189	ENSP00000380150:C718G;ENSP00000347695:C189G	ENSP00000347695:C189G	C	-	1	0	CARD11	2928911	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.404000	0.66344	1.941000	0.56285	0.454000	0.30748	TGC		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		C	2962385	A	C	2962385	3	2	410	1	0	0	0	0	1	0	0	0	2645	188	7	5	1348	5	CARD11	7	2962385	Missense_Mutation	SNP	A	TCGA-59-2348-01A-01W-0799-08		2962385	156176278	28	22436											
NPC1L1	29881	broad.mit.edu	37	7	44575901	44575901	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr7:44575901A>G	ENST00000289547.4	-	4	1863	c.1808T>C	c.(1807-1809)tTc>tCc	p.F603S	NPC1L1_ENST00000546276.1_Missense_Mutation_p.F603S|NPC1L1_ENST00000423141.1_Missense_Mutation_p.F603S|NPC1L1_ENST00000381160.3_Missense_Mutation_p.F603S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	603					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.F603S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCGACGCTGGAAGGCTCGCAT	0.622																																																1	Substitution - Missense(1)	ovary(1)	7											80	78	79					7																	44575901		2203	4300	6503	44542426	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1808T>C	7.37:g.44575901A>G	ENSP00000289547:p.Phe603Ser		44542426	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	a	12.02	1.813487	0.32053	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.93247	-3.14;-3.15;-3.19;-1.88	4.11	4.11	0.48088	.	0.068268	0.64402	D	0.000012	D	0.92665	0.7669	L	0.51422	1.61	0.36997	D	0.895086	B;D;B;P	0.57571	0.109;0.98;0.43;0.944	B;P;B;P	0.53649	0.03;0.731;0.162;0.544	D	0.92761	0.6224	10	0.42905	T	0.14	-22.3803	9.4878	0.38940	1.0:0.0:0.0:0.0	.	603;603;603;603	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	S	603	ENSP00000289547:F603S;ENSP00000370552:F603S;ENSP00000438033:F603S;ENSP00000404670:F603S	ENSP00000289547:F603S	F	-	2	0	NPC1L1	44542426	1.000000	0.71417	0.902000	0.35471	0.354000	0.29330	4.948000	0.63590	1.478000	0.48253	0.248000	0.18094	TTC		0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		G	44575901	A	G	44575901	3	3	410	1	0	0	0	0	1	0	0	0	10571	246	9	4	2339	4	NPC1L1	7	44575901	Missense_Mutation	SNP	A	TCGA-59-2348-01A-01W-0799-08	41613516	44575901	114562762	29	22437											
ADCY1	107	broad.mit.edu	37	7	45750217	45750217	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr7:45750217G>A	ENST00000297323.7	+	19	3045	c.3023G>A	c.(3022-3024)cGg>cAg	p.R1008Q		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1008					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R1008Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTGGCCAGTCGGATGGATAGC	0.562																																																2	Substitution - Missense(2)	ovary(1)|prostate(1)	7											70	62	65					7																	45750217		2203	4300	6503	45716742	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3023G>A	7.37:g.45750217G>A	ENSP00000297323:p.Arg1008Gln		45716742	A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040832	0.93685	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.55588	0.51	4.75	3.87	0.44632	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.93939	3.475	0.49687	D	0.999818	D	0.89917	1.0	D	0.97110	1.0	T	0.82178	-0.0586	10	0.87932	D	0	.	11.086	0.48086	0.091:0.0:0.909:0.0	.	1008	Q08828	ADCY1_HUMAN	Q	1008	ENSP00000297323:R1008Q	ENSP00000297323:R1008Q	R	+	2	0	ADCY1	45716742	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.044000	0.93805	1.362000	0.46000	0.561000	0.74099	CGG		0.562	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		A	45750217	G	A	45750217	3	1	410	1	0	0	0	0	1	0	0	0	292	1116	39	1	3097	1	ADCY1	7	45750217	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	1174316	45750217	113388446	30	22438											
PARP12	64761	broad.mit.edu	37	7	139727147	139727147	+	Silent	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr7:139727147G>A	ENST00000263549.3	-	10	2430	c.1557C>T	c.(1555-1557)cgC>cgT	p.R519R		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	519	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.R519R(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AAGGCAGCGTGCGGTTAAAGA	0.502																																																1	Substitution - coding silent(1)	ovary(1)	7											110	103	106					7																	139727147		2203	4300	6503	139373616	SO:0001819	synonymous_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1557C>T	7.37:g.139727147G>A			139373616	Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	CCDS5857.1																																																																																				0.502	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		A	139727147	G	A	139727147	2	1	410	1	0	0	0	0	0	0	0	1	11457	1306	46	2		2	PARP12	7	139727147	Silent	SNP	G	TCGA-59-2348-01A-01W-0799-08	93976930	139727147	19411516	31	22439											
OR2A5	393046	broad.mit.edu	37	7	143748085	143748085	+	Silent	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr7:143748085G>A	ENST00000408906.2	+	1	625	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V197V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCAACCAGGTGGTCATCTTTG	0.572																																																1	Substitution - coding silent(1)	ovary(1)	7											150	153	152					7																	143748085		2004	4177	6181	143379018	SO:0001819	synonymous_variant	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.591G>A	7.37:g.143748085G>A			143379018	B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	CCDS43668.1																																																																																				0.572	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			A	143748085	G	A	143748085	2	1	410	1	0	0	0	0	0	0	0	1	10981	1335	47	2		2	OR2A5	7	143748085	Silent	SNP	G	TCGA-59-2348-01A-01W-0799-08	4020938	143748085	15390578	32	22440											
FRMPD1	22844	broad.mit.edu	37	9	37745741	37745741	+	Missense_Mutation	SNP	G	G	T	rs62640014	byFrequency	TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr9:37745741G>T	ENST00000539465.1	+	16	4305	c.3712G>T	c.(3712-3714)Gat>Tat	p.D1238Y	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1238Y			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1238						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.D1238Y(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GACAGGGCAAGATATAGCCCC	0.522													G|||	23	0.00459265	0.0174	0	5008	,	,		18746	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9						G	TYR/ASP	38,4368	42.3+/-75.8	0,38,2165	82	82	82		3712	1.1	0	9	dbSNP_129	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FRMPD1	NM_014907.2	160	0,39,6464	TT,TG,GG		0.0116,0.8625,0.2999	probably-damaging	1238/1579	37745741	39,12967	2203	4300	6503	37735741	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3712G>T	9.37:g.37745741G>T	ENSP00000444411:p.Asp1238Tyr		37735741	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	15.86	2.958334	0.53400	0.008625	1.16E-4	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.10005	2.92;2.92	5.29	1.08	0.20341	.	0.978445	0.08425	N	0.947715	T	0.08268	0.0206	L	0.27053	0.805	0.09310	N	1	D	0.56968	0.978	P	0.52267	0.694	T	0.28490	-1.0042	10	0.62326	D	0.03	-1.2993	4.6247	0.12472	0.2747:0.1612:0.564:0.0	rs62640014	1238	Q5SYB0	FRPD1_HUMAN	Y	1238	ENSP00000366995:D1238Y;ENSP00000444411:D1238Y	ENSP00000366995:D1238Y	D	+	1	0	FRMPD1	37735741	0.091000	0.21658	0.001000	0.08648	0.113000	0.19764	1.983000	0.40648	0.641000	0.30601	0.556000	0.70494	GAT		0.522	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		T	37745741	G	T	37745741	3	4	410	1	0	0	0	0	1	0	0	0	6057	942	33	3	3770	3	FRMPD1	9	37745741	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08		37745741	103467690	33	22441											
OMD	4958	broad.mit.edu	37	9	95179820	95179820	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr9:95179820T>C	ENST00000375550.4	-	2	296	c.21A>G	c.(19-21)atA>atG	p.I7M	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	7					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.I7M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						AAATAACATATATTGGACTTA	0.328			T	USP6	aneurysmal bone cysts																																		Dom	yes		9	9q22.31	4958	osteomodulin		M	1	Substitution - Missense(1)	ovary(1)	9											29	29	29					9																	95179820		2203	4300	6503	94219641	SO:0001583	missense	4958			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.21A>G	9.37:g.95179820T>C	ENSP00000364700:p.Ile7Met		94219641	Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	t	3.329	-0.137180	0.06711	.	.	ENSG00000127083	ENST00000375550	T	0.38887	1.11	5.41	3.06	0.35304	.	0.796204	0.11022	N	0.608280	T	0.23451	0.0567	N	0.19112	0.55	0.30115	N	0.806223	P	0.37864	0.61	B	0.28139	0.086	T	0.08472	-1.0720	10	0.23302	T	0.38	-2.1897	9.8938	0.41306	0.0:0.1392:0.0:0.8608	.	7	Q99983	OMD_HUMAN	M	7	ENSP00000364700:I7M	ENSP00000364700:I7M	I	-	3	3	OMD	94219641	0.846000	0.29590	0.044000	0.18714	0.015000	0.08874	0.393000	0.20817	0.445000	0.26639	0.477000	0.44152	ATA		0.328	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		C	95179820	T	C	95179820	3	2	410	1	0	0	0	0	1	0	0	0	10865	1396	49	4	1252	4	OMD	9	95179820	Missense_Mutation	SNP	T	TCGA-59-2348-01A-01W-0799-08	57434079	95179820	46033611	34	22442											
HSPA5	3309	broad.mit.edu	37	9	127998913	127998913	+	Silent	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr9:127998913G>A	ENST00000324460.6	-	8	2126	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	641					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.P641P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CACCAGTTGGGGGAGGGCCTG	0.413										Prostate(1;0.17)																																						1	Substitution - coding silent(1)	ovary(1)	9											94	86	89					9																	127998913		2203	4300	6503	127038734	SO:0001819	synonymous_variant	3309				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1923C>T	9.37:g.127998913G>A			127038734	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	CCDS6863.1																																																																																				0.413	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			A	127998913	G	A	127998913	2	1	410	1	0	0	0	0	0	0	0	1	7414	1219	43	2		2	HSPA5	9	127998913	Silent	SNP	G	TCGA-59-2348-01A-01W-0799-08	32819093	127998913	13214518	35	22443											
VIM	7431	broad.mit.edu	37	10	17277378	17277378	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr10:17277378G>A	ENST00000224237.5	+	6	1364	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.E407K			P08670	VIME_HUMAN	vimentin	407	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E407K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGAAGGCGAGGAGAGCAG	0.502																																																1	Substitution - Missense(1)	ovary(1)	10											81	76	78					10																	17277378		2203	4300	6503	17317384	SO:0001583	missense	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1219G>A	10.37:g.17277378G>A	ENSP00000224237:p.Glu407Lys		17317384	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857444	0.91433	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.93366	-3.21;-3.21	5.73	5.73	0.89815	Filament (1);	0.330005	0.21462	N	0.074144	D	0.97707	0.9248	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	0.99;1.0;1.0;0.99	P;D;D;P	0.97110	0.869;0.975;1.0;0.869	D	0.98080	1.0403	10	0.66056	D	0.02	.	19.9515	0.97200	0.0:0.0:1.0:0.0	.	407;394;407;407	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	K	407;407;394	ENSP00000446007:E407K;ENSP00000224237:E407K	ENSP00000224237:E407K	E	+	1	0	VIM	17317384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.855000	0.99526	2.693000	0.91896	0.638000	0.83543	GAG		0.502	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		A	17277378	G	A	17277378	3	1	410	1	0	0	0	0	1	0	0	0	17166	1059	37	1	1241	1	VIM	10	17277378	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08		17277378	118257369	36	22444											
GRID1	2894	broad.mit.edu	37	10	87675942	87675942	+	Splice_Site	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr10:87675942C>T	ENST00000327946.7	-	5	866		c.e5+1			NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGAGCCCTTACCTCATTCACA	0.507										Multiple Myeloma(13;0.14)																																						1	Unknown(1)	ovary(1)	10											85	78	80					10																	87675942		2203	4300	6503	87665922	SO:0001630	splice_region_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.780+1G>A	10.37:g.87675942C>T			87665922	B3KXD5|B7Z7L0|Q8IXT3	Splice_Site	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714907	0.68844	.	.	ENSG00000182771	ENST00000327946	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6027	0.68453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRID1	87665922	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.801000	0.69115	2.504000	0.84457	0.561000	0.74099	.		0.507	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	Intron	T	87675942	C	T	87675942	5	4	410	1	0	0	0	0	0	0	1	0	6771	521	18	2	2296	2	GRID1	10	87675942	Splice_Site	SNP	C	TCGA-59-2348-01A-01W-0799-08	70398564	87675942	47858805	37	22445											
VWA2	340706	broad.mit.edu	37	10	116048756	116048756	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr10:116048756C>A	ENST00000392982.3	+	12	1880	c.1630C>A	c.(1630-1632)Ccc>Acc	p.P544T	VWA2_ENST00000603594.1_Missense_Mutation_p.P544T			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	544	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.P544T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTCAGTAGGGCCCGAGAATTT	0.582																																																1	Substitution - Missense(1)	ovary(1)	10											78	76	76					10																	116048756		2203	4300	6503	116038746	SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1630C>A	10.37:g.116048756C>A	ENSP00000376708:p.Pro544Thr		116038746	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	C	4.345	0.063511	0.08388	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.83506	-1.73	5.43	1.2	0.21068	von Willebrand factor, type A (3);	0.554095	0.18133	N	0.150677	T	0.73697	0.3620	L	0.48218	1.51	0.09310	N	1	B;B;B	0.32717	0.38;0.381;0.169	B;B;B	0.38842	0.283;0.198;0.086	T	0.57585	-0.7786	10	0.14252	T	0.57	.	4.1233	0.10116	0.2393:0.4384:0.2475:0.0748	.	240;544;544	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	T	544	ENSP00000376708:P544T	ENSP00000298715:P544T	P	+	1	0	VWA2	116038746	0.000000	0.05858	0.118000	0.21660	0.033000	0.12548	0.727000	0.25999	0.253000	0.21552	-0.175000	0.13238	CCC		0.582	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		A	116048756	C	A	116048756	3	1	410	1	0	0	0	0	1	0	0	0	17239	739	26	3	1672	3	VWA2	10	116048756	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	28372814	116048756	19485991	38	22446											
TRIM5	85363	broad.mit.edu	37	11	5701286	5701286	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr11:5701286G>A	ENST00000380034.3	-	2	378	c.122C>T	c.(121-123)gCa>gTa	p.A41V	TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000396847.3_Missense_Mutation_p.A41V|TRIM5_ENST00000396853.4_Missense_Mutation_p.A41V|TRIM5_ENST00000305836.5_Missense_Mutation_p.A41V|TRIM5_ENST00000396855.3_Missense_Mutation_p.A41V|TRIM5_ENST00000380027.1_Missense_Mutation_p.A41V	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	41					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A41V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTTGTGGTTTGCAGTGAGGCA	0.557																																																1	Substitution - Missense(1)	ovary(1)	11											123	108	113					11																	5701286		2201	4297	6498	5657862	SO:0001583	missense	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.122C>T	11.37:g.5701286G>A	ENSP00000369373:p.Ala41Val		5657862	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	G	5.262	0.233739	0.09969	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903;ENST00000419850	D;D;D;D;D;D;D;D	0.93019	-1.85;-3.15;-3.15;-1.85;-3.15;-1.85;-3.15;-3.15	4.07	-0.281	0.12882	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.461070	0.04165	N	0.323797	D	0.88923	0.6569	N	0.17248	0.465	0.09310	N	1	B;B;P	0.45396	0.079;0.079;0.857	B;B;P	0.48982	0.051;0.056;0.597	T	0.80710	-0.1261	10	0.33141	T	0.24	.	4.2282	0.10590	0.0974:0.4756:0.2793:0.1478	.	41;41;41	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	V	41	ENSP00000380064:A41V;ENSP00000307031:A41V;ENSP00000369373:A41V;ENSP00000369366:A41V;ENSP00000380058:A41V;ENSP00000380062:A41V;ENSP00000388031:A41V;ENSP00000388150:A41V	ENSP00000307031:A41V	A	-	2	0	TRIM5	5657862	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-1.170000	0.03118	-0.026000	0.13895	-0.188000	0.12872	GCA		0.557	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		A	5701286	G	A	5701286	3	1	410	1	0	0	0	0	1	0	0	0	16525	1319	46	2	1626	2	TRIM5	11	5701286	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08		5701286	129305230	39	22447											
NELL1	4745	broad.mit.edu	37	11	20968915	20968915	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr11:20968915C>A	ENST00000357134.5	+	11	1257	c.1105C>A	c.(1105-1107)Cct>Act	p.P369T	NELL1_ENST00000532434.1_Missense_Mutation_p.P369T|NELL1_ENST00000298925.5_Missense_Mutation_p.P397T|NELL1_ENST00000325319.5_Missense_Mutation_p.P312T	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	369					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.P369T(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAAATGTGTCCTCCTTTGAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	11											129	127	128					11																	20968915		2203	4300	6503	20925491	SO:0001583	missense	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1105C>A	11.37:g.20968915C>A	ENSP00000349654:p.Pro369Thr		20925491	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604409	0.66445	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	6.17	5.26	0.73747	von Willebrand factor, type C (1);	0.122875	0.56097	D	0.000039	T	0.81550	0.4846	M	0.81497	2.545	0.46774	D	0.999192	P;D;D;D	0.76494	0.562;0.999;0.986;0.993	B;D;P;D	0.78314	0.346;0.991;0.885;0.966	T	0.82884	-0.0236	10	0.48119	T	0.1	-8.5939	13.7699	0.63018	0.0:0.9296:0.0:0.0704	.	312;397;369;369	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	T	397;369;312;369	ENSP00000298925:P397T;ENSP00000349654:P369T;ENSP00000317837:P312T;ENSP00000437170:P369T	ENSP00000298925:P397T	P	+	1	0	NELL1	20925491	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.863000	0.56016	1.616000	0.50265	0.655000	0.94253	CCT		0.418	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		A	20968915	C	A	20968915	3	1	410	1	0	0	0	0	1	0	0	0	10333	855	30	3	1147	3	NELL1	11	20968915	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	15267629	20968915	114037601	40	22448											
OR5M11	219487	broad.mit.edu	37	11	56310387	56310387	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr11:56310387G>T	ENST00000528616.2	-	1	370	c.347C>A	c.(346-348)gCa>gAa	p.A116E		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ATAGGCCATTGCTGCCAGCAT	0.458																																																0			11											68	70	69					11																	56310387		2187	4294	6481	56066963	SO:0001583	missense	219487			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.347C>A	11.37:g.56310387G>T	ENSP00000432417:p.Ala116Glu		56066963	B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067947	0.55539	.	.	ENSG00000255223	ENST00000528616	T	0.03124	4.04	5.1	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17874	0.0429	H	0.96142	3.775	0.09310	N	1	P	0.49358	0.923	P	0.52267	0.694	T	0.23762	-1.0179	9	0.66056	D	0.02	.	6.7536	0.23501	0.26:0.0:0.74:0.0	.	116	Q96RB7	OR5MB_HUMAN	E	116	ENSP00000432417:A116E	ENSP00000432417:A116E	A	-	2	0	OR5M11	56066963	0.000000	0.05858	0.990000	0.47175	0.815000	0.46073	0.134000	0.15932	1.416000	0.47057	0.632000	0.83419	GCA		0.458	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		T	56310387	G	T	56310387	3	4	410	1	0	0	0	0	1	0	0	0	11174	1319	46	3	573	3	OR5M11	11	56310387	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	35341472	56310387	78696129	41	22449											
AHNAK	79026	broad.mit.edu	37	11	62288364	62288364	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr11:62288364T>G	ENST00000378024.4	-	5	13799	c.13525A>C	c.(13525-13527)Atg>Ctg	p.M4509L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4509					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.M4509L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCAGGCATCTTAAACTTG	0.418																																																1	Substitution - Missense(1)	ovary(1)	11											76	73	74					11																	62288364		2202	4299	6501	62044940	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13525A>C	11.37:g.62288364T>G	ENSP00000367263:p.Met4509Leu		62044940	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.471236	0.26423	.	.	ENSG00000124942	ENST00000378024	T	0.01422	4.91	5.12	1.32	0.21799	.	0.542781	0.15183	U	0.275992	T	0.02807	0.0084	M	0.82823	2.61	0.26968	N	0.965654	B	0.19331	0.035	B	0.23275	0.045	T	0.32534	-0.9903	10	0.22706	T	0.39	.	9.9376	0.41561	0.0:0.2143:0.0:0.7857	.	4509	Q09666	AHNK_HUMAN	L	4509	ENSP00000367263:M4509L	ENSP00000367263:M4509L	M	-	1	0	AHNAK	62044940	0.386000	0.25180	0.990000	0.47175	0.968000	0.65278	0.575000	0.23729	0.322000	0.23283	0.523000	0.50628	ATG		0.418	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62288364	T	G	62288364	3	3	410	1	0	0	0	0	1	0	0	0	414	1435	50	5	4267	5	AHNAK	11	62288364	Missense_Mutation	SNP	T	TCGA-59-2348-01A-01W-0799-08	5977977	62288364	72718152	42	22450											
UBE4A	9354	broad.mit.edu	37	11	118253371	118253371	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr11:118253371C>G	ENST00000431736.2	+	13	2170	c.2098C>G	c.(2098-2100)Cag>Gag	p.Q700E	UBE4A_ENST00000545354.1_Missense_Mutation_p.Q165E|UBE4A_ENST00000252108.3_Missense_Mutation_p.Q693E					ubiquitination factor E4A									p.Q700E(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCACCTGGATCAGACCCCAAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	11											219	200	207					11																	118253371		2200	4296	6496	117758581	SO:0001583	missense	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2098C>G	11.37:g.118253371C>G	ENSP00000387362:p.Gln700Glu		117758581		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495642	0.12762	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.66280	-0.2;-0.2;1.04	5.68	4.77	0.60923	Ubiquitin conjugation factor E4, core (1);	0.216882	0.49305	D	0.000157	T	0.30727	0.0774	N	0.01576	-0.805	0.41534	D	0.988479	B;B	0.16396	0.017;0.014	B;B	0.15870	0.014;0.004	T	0.37103	-0.9720	10	0.02654	T	1	-1.952	14.1914	0.65641	0.0:0.9286:0.0:0.0714	.	693;700	Q14139;Q14139-2	UBE4A_HUMAN;.	E	693;700;165	ENSP00000252108:Q693E;ENSP00000387362:Q700E;ENSP00000438918:Q165E	ENSP00000252108:Q693E	Q	+	1	0	UBE4A	117758581	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	3.186000	0.50942	1.405000	0.46838	0.591000	0.81541	CAG		0.493	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		G	118253371	C	G	118253371	3	3	410	1	0	0	0	0	1	0	0	0	16882	827	29	3	2144	3	UBE4A	11	118253371	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	55965007	118253371	16753145	43	22451											
OR10S1	219873	broad.mit.edu	37	11	123848124	123848124	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr11:123848124G>A	ENST00000531945.1	-	1	364	c.275C>T	c.(274-276)cCc>cTc	p.P92L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P92L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGACCTTGGGCACTGTCAC	0.552																																																1	Substitution - Missense(1)	ovary(1)	11											87	68	75					11																	123848124		2202	4299	6501	123353334	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.275C>T	11.37:g.123848124G>A	ENSP00000431914:p.Pro92Leu		123353334	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636124	0.87760	.	.	ENSG00000196248	ENST00000531945	T	0.01854	4.6	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	U	0.000861	T	0.22898	0.0553	H	0.97516	4.02	0.53688	D	0.999978	D	0.89917	1.0	D	0.69307	0.963	T	0.43475	-0.9389	10	0.72032	D	0.01	-27.1585	17.8867	0.88856	0.0:0.0:1.0:0.0	.	92	Q8NGN2	O10S1_HUMAN	L	92	ENSP00000431914:P92L	ENSP00000431914:P92L	P	-	2	0	OR10S1	123353334	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.021000	0.93673	2.544000	0.85801	0.638000	0.83543	CCC		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		A	123848124	G	A	123848124	3	1	410	1	0	0	0	0	1	0	0	0	10918	1232	43	2	724	2	OR10S1	11	123848124	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	5594753	123848124	11158392	44	22452											
PRICKLE1	144165	broad.mit.edu	37	12	42853970	42853970	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr12:42853970T>C	ENST00000455697.1	-	8	2422	c.2137A>G	c.(2137-2139)Ata>Gta	p.I713V	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.I713V|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.I713V|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.I713V|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.I713V	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	713					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I713V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTATTCTGTATAAATTTCTCA	0.483																																																1	Substitution - Missense(1)	ovary(1)	12											74	77	76					12																	42853970		2203	4300	6503	41140237	SO:0001583	missense	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2137A>G	12.37:g.42853970T>C	ENSP00000401060:p.Ile713Val		41140237	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270933	0.23221	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.58	-0.0644	0.13772	.	0.604659	0.17647	N	0.166840	T	0.68879	0.3049	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50524	-0.8818	10	0.12103	T	0.63	-12.4202	11.882	0.52581	0.1046:0.0:0.5807:0.3147	.	713	Q96MT3	PRIC1_HUMAN	V	713	ENSP00000401060:I713V;ENSP00000398947:I713V;ENSP00000448359:I713V;ENSP00000345064:I713V;ENSP00000449819:I713V	ENSP00000345064:I713V	I	-	1	0	PRICKLE1	41140237	0.002000	0.14202	0.054000	0.19295	0.996000	0.88848	0.208000	0.17415	0.107000	0.17824	0.533000	0.62120	ATA		0.483	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			C	42853970	T	C	42853970	3	2	410	1	0	0	0	0	1	0	0	0	12489	1406	49	4	362	4	PRICKLE1	12	42853970	Missense_Mutation	SNP	T	TCGA-59-2348-01A-01W-0799-08		42853970	90997925	45	22453											
CALCOCO1	57658	broad.mit.edu	37	12	54118947	54118947	+	Missense_Mutation	SNP	T	T	C	rs535194693		TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr12:54118947T>C	ENST00000550804.1	-	2	140	c.80A>G	c.(79-81)aAc>aGc	p.N27S	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.N27S|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	27	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.|p300 KIX-binding. {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.N27S(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGGTGTTGGGGATGTA	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											205	159	174					12																	54118947		2203	4300	6503	52405214	SO:0001583	missense	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.80A>G	12.37:g.54118947T>C	ENSP00000449960:p.Asn27Ser		52405214	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150445	0.78001	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688;ENST00000547885;ENST00000548431	T;T;T;T;T;T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78	4.86	4.86	0.63082	.	0.000000	0.49305	D	0.000158	T	0.17238	0.0414	L	0.38175	1.15	0.35200	D	0.774219	D;P;P;P;P	0.56746	0.977;0.568;0.943;0.512;0.954	P;B;P;B;P	0.54759	0.76;0.237;0.496;0.152;0.63	T	0.11518	-1.0584	10	0.41790	T	0.15	-23.7115	13.8751	0.63648	0.0:0.0:0.0:1.0	.	27;27;27;27;27	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;.;CACO1_HUMAN	S	27	ENSP00000397189:N27S;ENSP00000262059:N27S;ENSP00000447647:N27S;ENSP00000449960:N27S;ENSP00000450083:N27S;ENSP00000448621:N27S;ENSP00000447117:N27S;ENSP00000449058:N27S;ENSP00000446820:N27S;ENSP00000448026:N27S;ENSP00000450012:N27S;ENSP00000449796:N27S	ENSP00000262059:N27S	N	-	2	0	CALCOCO1	52405214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.578000	0.53892	2.188000	0.69820	0.533000	0.62120	AAC		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		C	54118947	T	C	54118947	3	2	410	1	0	0	0	0	1	0	0	0	2577	1725	60	4	2051	4	CALCOCO1	12	54118947	Missense_Mutation	SNP	T	TCGA-59-2348-01A-01W-0799-08	11264977	54118947	79732948	46	22454											
MDM1	56890	broad.mit.edu	37	12	68696565	68696565	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr12:68696565C>A	ENST00000303145.7	-	12	1893	c.1807G>T	c.(1807-1809)Gac>Tac	p.D603Y	MDM1_ENST00000411698.2_Missense_Mutation_p.D568Y|MDM1_ENST00000540418.1_Missense_Mutation_p.D323Y	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	603					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.D603Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGGATATTGTCTTCAGAATCT	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											122	124	123					12																	68696565		2203	4300	6503	66982832	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1807G>T	12.37:g.68696565C>A	ENSP00000302537:p.Asp603Tyr		66982832	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	C	8.519	0.868372	0.17250	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000539972;ENST00000411698	T;T;T	0.23147	1.92;2.24;2.24	4.13	-4.37	0.03633	.	2.029970	0.02376	N	0.078319	T	0.18130	0.0435	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.31790	0.34;0.34	B;B	0.34242	0.178;0.178	T	0.19353	-1.0308	9	.	.	.	7.3776	9.6833	0.40082	0.0:0.5021:0.3499:0.148	.	568;603	E7EPQ3;Q8TC05	.;MDM1_HUMAN	Y	323;603;30;568	ENSP00000443815:D323Y;ENSP00000302537:D603Y;ENSP00000391006:D568Y	.	D	-	1	0	MDM1	66982832	0.012000	0.17670	0.004000	0.12327	0.556000	0.35491	-0.189000	0.09629	-0.766000	0.04639	0.555000	0.69702	GAC		0.428	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		A	68696565	C	A	68696565	3	1	410	1	0	0	0	0	1	0	0	0	9412	913	32	3	349	3	MDM1	12	68696565	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	14577618	68696565	65155330	47	22455											
TPH2	121278	broad.mit.edu	37	12	72335393	72335393	+	Silent	SNP	C	C	T	rs74510566		TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr12:72335393C>T	ENST00000333850.3	+	2	276	c.135C>T	c.(133-135)gaC>gaT	p.D45D	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	45					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.D45D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCAAAAATGACGACAAAGGCA	0.393													C|||	1	0.000199681	0	0	5008	,	,		6803	0		0.001	False		,,,				2504	0															2	Substitution - coding silent(2)	ovary(1)|lung(1)	12											82	76	78					12																	72335393		2203	4300	6503	70621660	SO:0001819	synonymous_variant	121278			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.135C>T	12.37:g.72335393C>T			70621660	A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	CCDS31859.1																																																																																				0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		T	72335393	C	T	72335393	2	4	410	1	0	0	0	0	0	0	0	1	16402	535	19	1		1	TPH2	12	72335393	Silent	SNP	C	TCGA-59-2348-01A-01W-0799-08	3638828	72335393	61516502	48	22456											
RPH3A	22895	broad.mit.edu	37	12	113303276	113303276	+	Silent	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr12:113303276C>T	ENST00000389385.4	+	6	785	c.288C>T	c.(286-288)aaC>aaT	p.N96N	RPH3A_ENST00000543106.2_Silent_p.N96N|RPH3A_ENST00000415485.3_Silent_p.N96N|RPH3A_ENST00000447659.2_Silent_p.N47N|RPH3A_ENST00000551052.1_Silent_p.N92N|RPH3A_ENST00000548866.1_Silent_p.N47N|RPH3A_ENST00000420983.2_Silent_p.N96N	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	96	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.N92N(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATGGGGTGAACCGCTGCATAC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	12											203	176	185					12																	113303276		2203	4300	6503	111787659	SO:0001819	synonymous_variant	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.288C>T	12.37:g.113303276C>T			111787659	B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	CCDS44979.1																																																																																				0.527	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		T	113303276	C	T	113303276	2	4	410	1	0	0	0	0	0	0	0	1	13554	506	18	2		2	RPH3A	12	113303276	Silent	SNP	C	TCGA-59-2348-01A-01W-0799-08	40967883	113303276	20548619	49	22457											
GCN1L1	10985	broad.mit.edu	37	12	120586117	120586117	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr12:120586117C>A	ENST00000300648.6	-	37	4592	c.4580G>T	c.(4579-4581)tGt>tTt	p.C1527F		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1527					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.C1527F(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTAGGAGCACAGTACGCCAT	0.552																																																1	Substitution - Missense(1)	ovary(1)	12											83	90	88					12																	120586117		2139	4243	6382	119070500	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4580G>T	12.37:g.120586117C>A	ENSP00000300648:p.Cys1527Phe		119070500	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432185	0.62844	.	.	ENSG00000089154	ENST00000300648	T	0.64803	-0.12	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87360	0.2343	10	0.62326	D	0.03	.	18.7095	0.91651	0.0:1.0:0.0:0.0	.	1527	Q92616	GCN1L_HUMAN	F	1527	ENSP00000300648:C1527F	ENSP00000300648:C1527F	C	-	2	0	GCN1L1	119070500	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	7.583000	0.82559	2.435000	0.82474	0.313000	0.20887	TGT		0.552	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			A	120586117	C	A	120586117	3	1	410	1	0	0	0	0	1	0	0	0	6299	478	17	3	3523	3	GCN1L1	12	120586117	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	7282841	120586117	13265778	50	22458											
DZIP1	22873	broad.mit.edu	37	13	96242592	96242592	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr13:96242592C>T	ENST00000376829.2	-	17	2635	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	DZIP1_ENST00000347108.3_Missense_Mutation_p.R595Q|DZIP1_ENST00000361396.2_Missense_Mutation_p.R576Q|DZIP1_ENST00000361156.3_Missense_Mutation_p.R576Q	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	595					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R576Q(2)|p.R595Q(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AAGGAATTCTCGAATTTGATG	0.368																																																3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	13											200	179	186					13																	96242592		2203	4300	6503	95040593	SO:0001583	missense	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1784G>A	13.37:g.96242592C>T	ENSP00000366025:p.Arg595Gln		95040593	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613807	0.87359	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.19532	2.14;2.19;2.19;2.14	5.66	5.66	0.87406	.	0.152609	0.45361	D	0.000372	T	0.47600	0.1454	M	0.74258	2.255	0.36969	D	0.893749	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.941	T	0.55496	-0.8132	10	0.72032	D	0.01	-11.5579	16.6566	0.85230	0.0:1.0:0.0:0.0	.	576;595	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	Q	595;576;576;595	ENSP00000257312:R595Q;ENSP00000355018:R576Q;ENSP00000355175:R576Q;ENSP00000366025:R595Q	ENSP00000257312:R595Q	R	-	2	0	DZIP1	95040593	0.999000	0.42202	0.989000	0.46669	0.891000	0.51852	4.413000	0.59795	2.665000	0.90641	0.561000	0.74099	CGA		0.368	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		T	96242592	C	T	96242592	3	4	410	1	0	0	0	0	1	0	0	0	4863	884	31	1	847	1	DZIP1	13	96242592	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08		96242592	18927286	51	22459											
MIPOL1	145282	broad.mit.edu	37	14	37777574	37777574	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr14:37777574C>A	ENST00000327441.7	+	10	1144	c.678C>A	c.(676-678)aaC>aaA	p.N226K	MIPOL1_ENST00000545536.1_Missense_Mutation_p.N195K|MIPOL1_ENST00000537471.1_Missense_Mutation_p.N226K|MIPOL1_ENST00000556451.1_Missense_Mutation_p.N195K|MIPOL1_ENST00000536774.1_Missense_Mutation_p.N45K|MIPOL1_ENST00000396294.2_Missense_Mutation_p.N226K|MIPOL1_ENST00000539062.2_Missense_Mutation_p.N195K	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	226						nucleus (GO:0005634)		p.N226K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AATTACTGAACAGAATAAACA	0.308																																																1	Substitution - Missense(1)	ovary(1)	14											106	112	110					14																	37777574		2203	4299	6502	36847325	SO:0001583	missense	145282			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.678C>A	14.37:g.37777574C>A	ENSP00000333539:p.Asn226Lys		36847325	D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214782	0.58452	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.46063	0.88;0.89;0.88;0.88;0.88;0.88	5.65	5.65	0.86999	.	0.337880	0.34291	N	0.004092	T	0.47078	0.1426	M	0.71581	2.175	0.46061	D	0.998846	P;P	0.47545	0.897;0.897	P;B	0.44946	0.465;0.402	T	0.47548	-0.9109	10	0.06494	T	0.89	-9.2844	19.7072	0.96079	0.0:1.0:0.0:0.0	.	226;195	Q8TD10;Q49AL5	MIPO1_HUMAN;.	K	226;45;195;195;226;226;195	ENSP00000333539:N226K;ENSP00000438319:N195K;ENSP00000450479:N195K;ENSP00000379589:N226K;ENSP00000444254:N226K;ENSP00000442529:N195K	ENSP00000333539:N226K	N	+	3	2	MIPOL1	36847325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.689000	0.68234	2.662000	0.90505	0.591000	0.81541	AAC		0.308	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		A	37777574	C	A	37777574	3	1	410	1	0	0	0	0	1	0	0	0	9593	477	17	3	704	3	MIPOL1	14	37777574	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08		37777574	69571966	52	22460											
SLC35F4	341880	broad.mit.edu	37	14	58048029	58048029	+	Missense_Mutation	SNP	A	A	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr14:58048029A>T	ENST00000339762.6	-	4	817	c.818T>A	c.(817-819)cTg>cAg	p.L273Q	RP11-409I10.2_ENST00000555600.1_RNA|SLC35F4_ENST00000554729.1_Missense_Mutation_p.L114Q|SLC35F4_ENST00000556826.1_Missense_Mutation_p.L237Q			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	273	EamA.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L273Q(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTGGCCGTCAGCTTCTTTAA	0.428																																																1	Substitution - Missense(1)	ovary(1)	14											58	55	56					14																	58048029		1935	4134	6069	57117782	SO:0001583	missense	341880					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.818T>A	14.37:g.58048029A>T	ENSP00000342518:p.Leu273Gln		57117782	A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37		.	.	.	.	.	.	.	.	.	.	A	20.9	4.063446	0.76187	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.37752	1.18;1.18;1.18	6.08	6.08	0.98989	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	L	0.47190	1.495	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.52859	-0.8519	10	0.52906	T	0.07	-8.0836	16.6512	0.85203	1.0:0.0:0.0:0.0	.	273	A4IF30	S35F4_HUMAN	Q	237;273;114	ENSP00000452086:L237Q;ENSP00000342518:L273Q;ENSP00000451990:L114Q	ENSP00000342518:L273Q	L	-	2	0	SLC35F4	57117782	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.265000	0.95647	2.333000	0.79357	0.482000	0.46254	CTG		0.428	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		T	58048029	A	T	58048029	3	4	410	1	0	0	0	0	1	0	0	0	14594	188	7	5	767	5	SLC35F4	14	58048029	Missense_Mutation	SNP	A	TCGA-59-2348-01A-01W-0799-08	20270455	58048029	49301511	53	22461											
RYR3	6263	broad.mit.edu	37	15	34032066	34032066	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr15:34032066C>T	ENST00000389232.4	+	51	7760	c.7690C>T	c.(7690-7692)Cct>Tct	p.P2564S	RYR3_ENST00000415757.3_Missense_Mutation_p.P2564S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2564	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.P2564S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AATGGCCCTGCCTTGTCTCAG	0.468																																																1	Substitution - Missense(1)	ovary(1)	15											81	74	76					15																	34032066		1914	4104	6018	31819358	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7690C>T	15.37:g.34032066C>T	ENSP00000373884:p.Pro2564Ser		31819358	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923174	0.52653	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97731	-4.51;-4.51	5.4	5.4	0.78164	.	0.135038	0.50627	D	0.000113	D	0.97424	0.9157	M	0.74389	2.26	0.58432	D	0.999996	P;B	0.45531	0.86;0.382	P;B	0.44561	0.453;0.146	D	0.97750	1.0214	10	0.54805	T	0.06	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	2564;2564	Q15413-2;Q15413	.;RYR3_HUMAN	S	2564	ENSP00000373884:P2564S;ENSP00000399610:P2564S	ENSP00000354735:P2564S	P	+	1	0	RYR3	31819358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.596000	0.54024	2.805000	0.96524	0.655000	0.94253	CCT		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34032066	C	T	34032066	3	4	410	1	0	0	0	0	1	0	0	0	13773	739	26	2	7892	2	RYR3	15	34032066	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08		34032066	68499326	54	22462											
NXN	64359	broad.mit.edu	37	17	704246	704246	+	Silent	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr17:704246G>A	ENST00000336868.3	-	8	1342	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	NXN_ENST00000575801.1_Silent_p.I309I|NXN_ENST00000538650.1_Silent_p.I108I|NXN_ENST00000537628.2_Silent_p.I168I	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	417					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.I417I(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		AGGCCTCCACGATGGCGGGGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	17											64	60	62					17																	704246		2203	4300	6503	650996	SO:0001819	synonymous_variant	64359				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1251C>T	17.37:g.704246G>A			650996	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Silent	SNP	ENST00000336868.3	37	CCDS10998.1																																																																																				0.567	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			A	704246	G	A	704246	2	1	410	1	0	0	0	0	0	0	0	1	10787	1048	37	1		1	NXN	17	704246	Silent	SNP	G	TCGA-59-2348-01A-01W-0799-08		704246	80490964	55	22463											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	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	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577121	G	A	7577121	3	1	410	1	0	0	0	0	1	0	0	0	16381	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	6872875	7577121	73618089	56	22464											
MYH13	8735	broad.mit.edu	37	17	10250012	10250012	+	Silent	SNP	C	C	T	rs191213361		TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr17:10250012C>T	ENST00000418404.3	-	12	1411	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G	MYH13_ENST00000252172.4_Silent_p.G416G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	416	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.G416G(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACATTTTGCCCTTTAGTGA	0.448																																																1	Substitution - coding silent(1)	ovary(1)	17											118	110	113					17																	10250012		1974	4176	6150	10190737	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1248G>A	17.37:g.10250012C>T			10190737	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.448	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10250012	C	T	10250012	2	4	410	1	0	0	0	0	0	0	0	1	10032	726	26	2		2	MYH13	17	10250012	Silent	SNP	C	TCGA-59-2348-01A-01W-0799-08	2672891	10250012	70945198	57	22465											
TRIM16	10626	broad.mit.edu	37	17	15535915	15535915	+	Nonsense_Mutation	SNP	G	G	T	rs145384017	byFrequency	TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr17:15535915G>T	ENST00000578237.1	-	9	1778	c.923C>A	c.(922-924)tCg>tAg	p.S308*	TRIM16_ENST00000577886.1_Nonsense_Mutation_p.S92*|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.S308*|TRIM16_ENST00000416464.2_Nonsense_Mutation_p.S178*|RP11-385D13.1_ENST00000455584.2_Nonsense_Mutation_p.S308*			O95361	TRI16_HUMAN	tripartite motif containing 16	308					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)	p.S308*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GCGGATGCCCGAGAGTTTATC	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	17											121	107	112					17																	15535915		2203	4300	6503	15476640	SO:0001587	stop_gained	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.923C>A	17.37:g.15535915G>T	ENSP00000463188:p.Ser308*		15476640	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Nonsense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.069036	0.76301	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	.	.	.	4.8	3.84	0.44239	.	0.664334	0.14661	N	0.305963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4291	0.50029	0.0895:0.0:0.9105:0.0	.	.	.	.	X	308;178	.	ENSP00000338989:S308X	S	-	2	0	TRIM16	15476640	0.998000	0.40836	0.897000	0.35233	0.320000	0.28249	3.153000	0.50685	1.156000	0.42514	-0.234000	0.12200	TCG		0.448	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		T	15535915	G	T	15535915	4	4	410	1	0	0	0	0	0	1	0	0	16491	1059	37	3	783	3	TRIM16	17	15535915	Nonsense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	5285903	15535915	65659295	58	22466											
KRT13	3860	broad.mit.edu	37	17	39658838	39658838	+	Silent	SNP	C	C	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr17:39658838C>G	ENST00000246635.3	-	6	1078	c.1032G>C	c.(1030-1032)ggG>ggC	p.G344G	KRT13_ENST00000587544.1_Silent_p.G344G|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Silent_p.G344G|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	344	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G344G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TGTTCTCCAGCCCCGCTTTCT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	17											75	69	71					17																	39658838		2203	4300	6503	36912364	SO:0001819	synonymous_variant	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1032G>C	17.37:g.39658838C>G			36912364	Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	CCDS11396.1																																																																																				0.632	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		G	39658838	C	G	39658838	2	3	410	1	0	0	0	0	0	0	0	1	8450	726	26	3		3	KRT13	17	39658838	Silent	SNP	C	TCGA-59-2348-01A-01W-0799-08	24122923	39658838	41536372	59	22467											
ABCA8	10351	broad.mit.edu	37	17	66871410	66871410	+	Missense_Mutation	SNP	C	C	T	rs200226002		TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr17:66871410C>T	ENST00000269080.2	-	35	4639	c.4502G>A	c.(4501-4503)cGg>cAg	p.R1501Q	ABCA8_ENST00000586539.1_Missense_Mutation_p.R1541Q|ABCA8_ENST00000430352.2_Missense_Mutation_p.R1541Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1501					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R1501Q(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCTTTCCTGCCGAGCAGCCTG	0.453																																																1	Substitution - Missense(1)	ovary(1)	17											80	74	76					17																	66871410		2203	4300	6503	64383005	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4502G>A	17.37:g.66871410C>T	ENSP00000269080:p.Arg1501Gln		64383005	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343486	0.61073	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.82255	-1.59;-1.59	5.37	3.24	0.37175	.	0.146272	0.30723	N	0.009016	T	0.68072	0.2961	L	0.37697	1.125	0.35033	D	0.759018	P;B;P	0.43885	0.527;0.301;0.82	B;B;B	0.28232	0.06;0.078;0.087	T	0.75328	-0.3356	10	0.39692	T	0.17	.	10.1386	0.42721	0.0:0.7881:0.1367:0.0751	.	1541;1541;1501	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	Q	1501;1541	ENSP00000269080:R1501Q;ENSP00000402814:R1541Q	ENSP00000269080:R1501Q	R	-	2	0	ABCA8	64383005	0.112000	0.22096	1.000000	0.80357	0.910000	0.53928	1.729000	0.38115	1.408000	0.46895	0.655000	0.94253	CGG		0.453	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		T	66871410	C	T	66871410	3	4	410	1	0	0	0	0	1	0	0	0	38	652	23	1	259	1	ABCA8	17	66871410	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	27212572	66871410	14323800	60	22468											
COL5A3	50509	broad.mit.edu	37	19	10106274	10106274	+	Missense_Mutation	SNP	C	C	T	rs573860973		TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr19:10106274C>T	ENST00000264828.3	-	16	1638	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	518	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G518E(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCATGAGGTCCCTGCAGGCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											57	52	54					19																	10106274		2203	4300	6503	9967274	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1553G>A	19.37:g.10106274C>T	ENSP00000264828:p.Gly518Glu		9967274	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509998	0.85282	.	.	ENSG00000080573	ENST00000264828	D	0.99619	-6.28	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	D	0.99840	0.9927	H	0.99626	4.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96539	0.9399	10	0.87932	D	0	.	14.2733	0.66164	0.0:1.0:0.0:0.0	.	518	P25940	CO5A3_HUMAN	E	518	ENSP00000264828:G518E	ENSP00000264828:G518E	G	-	2	0	COL5A3	9967274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.758000	0.68776	2.519000	0.84933	0.655000	0.94253	GGA		0.498	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10106274	C	T	10106274	3	4	410	1	0	0	0	0	1	0	0	0	3698	855	30	2	3892	2	COL5A3	19	10106274	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08		10106274	49022709	61	22469											
SLC1A6	6511	broad.mit.edu	37	19	15083684	15083684	+	Silent	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr19:15083684G>A	ENST00000221742.3	-	1	46	c.39C>T	c.(37-39)agC>agT	p.S13S	SLC1A6_ENST00000544886.2_Silent_p.S13S|SLC1A6_ENST00000600144.1_Silent_p.S13S|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R18W|SLC1A6_ENST00000598504.1_Silent_p.S13S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	13					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.S13S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCCGCTGGCCGCTCTCCCGCA	0.682																																																1	Substitution - coding silent(1)	ovary(1)	19											6	8	7					19																	15083684		2081	4102	6183	14944684	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.39C>T	19.37:g.15083684G>A			14944684	Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594868	0.28445	.	.	ENSG00000105143	ENST00000430939	T	0.75260	-0.92	4.25	-0.783	0.10958	.	.	.	.	.	T	0.62048	0.2396	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.54430	-0.8295	8	0.87932	D	0	-26.7728	7.0701	0.25173	0.484:0.0:0.516:0.0	.	18	E7EV13	.	W	18	ENSP00000409386:R18W	ENSP00000409386:R18W	R	-	1	2	SLC1A6	14944684	0.902000	0.30710	0.999000	0.59377	0.967000	0.64934	0.089000	0.15002	-0.044000	0.13491	0.313000	0.20887	CGG		0.682	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		A	15083684	G	A	15083684	2	1	410	1	0	0	0	0	0	0	0	1	14439	1078	38	1		1	SLC1A6	19	15083684	Silent	SNP	G	TCGA-59-2348-01A-01W-0799-08	4977410	15083684	44045299	62	22470											
FBXO27	126433	broad.mit.edu	37	19	39517637	39517637	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr19:39517637G>T	ENST00000292853.4	-	5	700	c.581C>A	c.(580-582)gCc>gAc	p.A194D	FBXO27_ENST00000509137.2_Missense_Mutation_p.A194D|FBXO27_ENST00000600828.1_Missense_Mutation_p.A193D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	194	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)	p.A194D(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GTCGTGTCGGGCTCCCCACCT	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											90	91	91					19																	39517637		2203	4300	6503	44209477	SO:0001583	missense	126433			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.581C>A	19.37:g.39517637G>T	ENSP00000292853:p.Ala194Asp		44209477	Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482354	0.44147	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.28666	1.6;1.6	3.97	2.92	0.33932	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.413589	0.19534	N	0.111967	T	0.22704	0.0548	L	0.49126	1.545	0.31909	N	0.614941	B	0.31256	0.316	B	0.28991	0.097	T	0.19386	-1.0307	10	0.11182	T	0.66	-12.083	8.6777	0.34189	0.0:0.0:0.7506:0.2494	.	194	Q8NI29	FBX27_HUMAN	D	194	ENSP00000292853:A194D;ENSP00000437662:A194D	ENSP00000292853:A194D	A	-	2	0	FBXO27	44209477	0.084000	0.21492	0.852000	0.33557	0.063000	0.16089	1.094000	0.30951	0.976000	0.38417	0.491000	0.48974	GCC		0.567	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			T	39517637	G	T	39517637	3	4	410	1	0	0	0	0	1	0	0	0	5737	1203	42	3	278	3	FBXO27	19	39517637	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	24433953	39517637	19611346	63	22471											
NLRP4	147945	broad.mit.edu	37	19	56370584	56370584	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr19:56370584G>T	ENST00000301295.6	+	3	2247	c.1825G>T	c.(1825-1827)Gtc>Ttc	p.V609F	NLRP4_ENST00000587891.1_Missense_Mutation_p.V534F|NLRP4_ENST00000346986.5_Missense_Mutation_p.V609F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	609					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.V609F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGTTCAAAATGTCTTTAAGAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	19											67	63	64					19																	56370584		2203	4299	6502	61062396	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1825G>T	19.37:g.56370584G>T	ENSP00000301295:p.Val609Phe		61062396	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696032	0.48202	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.52754	0.65;0.65	3.47	-3.15	0.05233	.	.	.	.	.	T	0.53158	0.1779	L	0.52905	1.665	0.09310	N	1	D;D;D	0.69078	0.991;0.997;0.99	D;D;P	0.67548	0.952;0.937;0.854	T	0.46789	-0.9166	9	0.51188	T	0.08	.	4.5558	0.12136	0.2574:0.3111:0.4315:0.0	.	609;534;609	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	F	609	ENSP00000301295:V609F;ENSP00000344787:V609F	ENSP00000301295:V609F	V	+	1	0	NLRP4	61062396	0.013000	0.17824	0.001000	0.08648	0.003000	0.03518	0.593000	0.23999	-0.467000	0.06932	0.591000	0.81541	GTC		0.408	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56370584	G	T	56370584	3	4	410	1	0	0	0	0	1	0	0	0	10479	1377	48	3	1831	3	NLRP4	19	56370584	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	16852947	56370584	2758399	64	22472											
NLRP4	147945	broad.mit.edu	37	19	56373461	56373461	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr19:56373461C>T	ENST00000301295.6	+	5	2544	c.2122C>T	c.(2122-2124)Cgt>Tgt	p.R708C	NLRP4_ENST00000587891.1_Missense_Mutation_p.R633C|NLRP4_ENST00000346986.5_Missense_Mutation_p.R708C	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	708			R -> H (in dbSNP:rs12462372).		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R708C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAACTCTCTCGTGATGACAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	19											142	127	132					19																	56373461		2203	4300	6503	61065273	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2122C>T	19.37:g.56373461C>T	ENSP00000301295:p.Arg708Cys		61065273	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691663	0.30052	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.53857	0.6;0.6	3.26	-1.55	0.08558	.	.	.	.	.	T	0.51143	0.1657	N	0.24115	0.695	0.09310	N	1	B;D;D	0.89917	0.129;1.0;1.0	B;D;D	0.70016	0.059;0.967;0.927	T	0.44112	-0.9349	9	0.48119	T	0.1	.	6.4783	0.22049	0.0:0.5232:0.0:0.4768	.	708;633;708	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	C	708	ENSP00000301295:R708C;ENSP00000344787:R708C	ENSP00000301295:R708C	R	+	1	0	NLRP4	61065273	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.147000	0.10234	-0.184000	0.10567	0.563000	0.77884	CGT		0.468	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56373461	C	T	56373461	3	4	410	1	0	0	0	0	1	0	0	0	10479	884	31	1	2136	1	NLRP4	19	56373461	Missense_Mutation	SNP	C	TCGA-59-2348-01A-01W-0799-08	2877	56373461	2755522	65	22473											
ZNF280B	140883	broad.mit.edu	37	22	22843712	22843712	+	Silent	SNP	T	T	C			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chr22:22843712T>C	ENST00000406426.1	-	4	754	c.12A>G	c.(10-12)tcA>tcG	p.S4S	ZNF280B_ENST00000360412.2_Silent_p.S4S			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S4S(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTTCCTCACATGATTGTTCCA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	22											101	92	95					22																	22843712		2203	4300	6503	21173712	SO:0001819	synonymous_variant	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.12A>G	22.37:g.22843712T>C			21173712		Silent	SNP	ENST00000406426.1	37	CCDS13799.1																																																																																				0.398	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		C	22843712	T	C	22843712	2	2	410	1	0	0	0	0	0	0	0	1	17815	1451	51	4		4	ZNF280B	22	22843712	Silent	SNP	T	TCGA-59-2348-01A-01W-0799-08		22843712	28460854	66	22474											
GPKOW	27238	broad.mit.edu	37	X	48979003	48979003	+	Silent	SNP	C	C	T			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chrX:48979003C>T	ENST00000156109.5	-	2	378	c.300G>A	c.(298-300)gtG>gtA	p.V100V		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	100						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.V100V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCTGGGACACCACCCCATCCG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	X											35	33	34					X																	48979003		2203	4300	6503	48865947	SO:0001819	synonymous_variant	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.300G>A	X.37:g.48979003C>T			48865947	Q59EK5|Q9BQA8	Silent	SNP	ENST00000156109.5	37	CCDS35251.1																																																																																				0.587	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		T	48979003	C	T	48979003	2	4	410	1	0	0	0	0	0	0	0	1	6613	581	21	2		2	GPKOW	23	48979003	Silent	SNP	C	TCGA-59-2348-01A-01W-0799-08		48979003	106291557	67	22475											
CACNA1F	778	broad.mit.edu	37	X	49083071	49083071	+	Splice_Site	SNP	C	C	G			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chrX:49083071C>G	ENST00000376265.2	-	10	1464		c.e10+1		CACNA1F_ENST00000323022.5_Splice_Site|CACNA1F_ENST00000376251.1_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGACCCCCACCATGGCTGCT	0.627																																																1	Unknown(1)	ovary(1)	X											17	15	16					X																	49083071		2190	4272	6462	48970015	SO:0001630	splice_region_variant	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1402+1G>C	X.37:g.49083071C>G			48970015	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Splice_Site	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	c	19.66	3.868736	0.72065	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3349	0.60512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA1F	48970015	0.997000	0.39634	0.985000	0.45067	0.958000	0.62258	3.010000	0.49559	2.212000	0.71576	0.431000	0.28591	.		0.627	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	Intron	G	49083071	C	G	49083071	5	3	410	1	0	0	0	0	0	0	1	0	2543	521	18	3	4686	3	CACNA1F	23	49083071	Splice_Site	SNP	C	TCGA-59-2348-01A-01W-0799-08	104068	49083071	106187489	68	22476											
IQSEC2	23096	broad.mit.edu	37	X	53280309	53280309	+	Silent	SNP	C	C	T	rs200629644		TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chrX:53280309C>T	ENST00000375368.5	-	4	1619	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P	IQSEC2_ENST00000375365.2_Silent_p.P278P|IQSEC2_ENST00000396435.3_Silent_p.P483P			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	473					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.P480P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGGGCCCTGACGGGTGGCAGT	0.557													c|||	1	0.000264901	0	0	3775	,	,		13137	0		0.001	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	X											49	52	51					X																	53280309		2203	4299	6502	53297034	SO:0001819	synonymous_variant	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1419G>A	X.37:g.53280309C>T			53297034	B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37																																																																																					0.557	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		T	53280309	C	T	53280309	2	4	410	1	0	0	0	0	0	0	0	1	7818	523	19	1		1	IQSEC2	23	53280309	Silent	SNP	C	TCGA-59-2348-01A-01W-0799-08	4197238	53280309	101990251	69	22477											
CAPN6	827	broad.mit.edu	37	X	110491921	110491921	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chrX:110491921G>A	ENST00000324068.1	-	10	1527	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	CAPN6_ENST00000541758.1_Missense_Mutation_p.R199C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	454	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.R454C(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AACACTGTGCGGGTGTCAATA	0.502																																																1	Substitution - Missense(1)	ovary(1)	X											115	97	103					X																	110491921		2203	4300	6503	110378577	SO:0001583	missense	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1360C>T	X.37:g.110491921G>A	ENSP00000317214:p.Arg454Cys		110378577	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985244	0.74474	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90563	-2.69;-2.69	5.8	5.8	0.92144	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95890	0.8906	10	0.87932	D	0	.	17.6415	0.88138	0.0:0.0:1.0:0.0	.	454	Q9Y6Q1	CAN6_HUMAN	C	454;199	ENSP00000317214:R454C;ENSP00000441736:R199C	ENSP00000317214:R454C	R	-	1	0	CAPN6	110378577	1.000000	0.71417	0.547000	0.28179	0.402000	0.30811	7.230000	0.78097	2.438000	0.82558	0.600000	0.82982	CGC		0.502	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			A	110491921	G	A	110491921	3	1	410	1	0	0	0	0	1	0	0	0	2630	1116	39	1	581	1	CAPN6	23	110491921	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	57211612	110491921	44778639	70	22478											
GABRE	2564	broad.mit.edu	37	X	151138672	151138672	+	Missense_Mutation	SNP	G	G	A	rs374540437		TCGA-59-2348-01A-01W-0799-08	TCGA-59-2348-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2d57e0c5-8058-42eb-b0f3-90d566114133	e05353fe-5619-4227-a7a0-9ed9dbe8190e	g.chrX:151138672G>A	ENST00000370328.3	-	2	312	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.R87C	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	87					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R87C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGCCAGGGCGCAGTTTGTGG	0.532																																																1	Substitution - Missense(1)	ovary(1)	X							CYS/ARG	0,3835		0,0,1632,571	151	135	140		259	4.3	1	X		140	1,6727		0,1,2427,1872	no	missense	GABRE	NM_004961.3	180	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	87/507	151138672	1,10562	2203	4300	6503	150889328	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.259C>T	X.37:g.151138672G>A	ENSP00000359353:p.Arg87Cys		150889328	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	g	18.41	3.618311	0.66787	0.0	1.49E-4	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.83506	-1.73;-1.73	5.27	4.28	0.50868	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.46145	D	0.000305	D	0.91270	0.7248	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91873	0.5509	10	0.87932	D	0	.	8.7019	0.34332	0.0:0.0:0.7107:0.2893	.	87	P78334	GBRE_HUMAN	C	87	ENSP00000359353:R87C;ENSP00000359350:R87C	ENSP00000359350:R87C	R	-	1	0	GABRE	150889328	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.717000	0.25851	2.340000	0.79590	0.597000	0.82753	CGC		0.532	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		A	151138672	G	A	151138672	3	1	410	1	0	0	0	0	1	0	0	0	6170	1087	38	1	1293	1	GABRE	23	151138672	Missense_Mutation	SNP	G	TCGA-59-2348-01A-01W-0799-08	40646751	151138672	4131888	71	22479											
USH2A	7399	broad.mit.edu	37	1	216256830	216256830	+	Missense_Mutation	SNP	C	C	T	rs143208990		TCGA-59-2350-01A-01W-0799-08	TCGA-59-2350-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b7e15a1a-4376-4756-97b0-f2aaab07efc1	5e2502bb-ad3c-45cb-a698-739139e52e2e	g.chr1:216256830C>T	ENST00000307340.3	-	26	5652	c.5266G>A	c.(5266-5268)Gtt>Att	p.V1756I	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.V1756I|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1756	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V1756I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTTATAAACGAAAAGAAGC	0.303										HNSCC(13;0.011)			C|||	1	0.000199681	0	0	5008	,	,		15339	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1						C	ILE/VAL	1,4403	2.1+/-5.4	0,1,2201	96	100	99		5266	-1.9	0.4	1	dbSNP_134	99	0,8598		0,0,4299	no	missense	USH2A	NM_206933.2	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	1756/5203	216256830	1,13001	2202	4299	6501	214323453	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5266G>A	1.37:g.216256830C>T	ENSP00000305941:p.Val1756Ile		214323453	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	6.896	0.534809	0.13188	2.27E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77750	-1.12;-1.12	4.38	-1.89	0.07689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.783880	0.10646	N	0.650406	T	0.55862	0.1947	N	0.12471	0.22	0.09310	N	0.999998	B	0.10296	0.003	B	0.10450	0.005	T	0.37911	-0.9685	10	0.10377	T	0.69	.	11.0688	0.47991	0.0:0.2969:0.0:0.7031	.	1756	O75445	USH2A_HUMAN	I	1756	ENSP00000305941:V1756I;ENSP00000355910:V1756I	ENSP00000305941:V1756I	V	-	1	0	USH2A	214323453	0.008000	0.16893	0.367000	0.25926	0.938000	0.57974	-0.574000	0.05868	-0.673000	0.05259	-0.136000	0.14681	GTT		0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216256830	C	T	216256830	3	4	411	1	0	0	0	0	1	0	0	0	17036	536	19	1	10530	1	USH2A	1	216256830	Missense_Mutation	SNP	C	TCGA-59-2350-01A-01W-0799-08		216256830	32993791	1	22480											
POLK	51426	broad.mit.edu	37	5	74848304	74848304	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2350-01A-01W-0799-08	TCGA-59-2350-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b7e15a1a-4376-4756-97b0-f2aaab07efc1	5e2502bb-ad3c-45cb-a698-739139e52e2e	g.chr5:74848304G>T	ENST00000241436.4	+	3	315	c.143G>T	c.(142-144)aGa>aTa	p.R48I	POLK_ENST00000504026.1_Missense_Mutation_p.R48I|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Missense_Mutation_p.R48I|POLK_ENST00000380481.3_5'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.R48I|POLK_ENST00000508526.1_Missense_Mutation_p.R48I	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	48					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R48I(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TAGGGGTCCAGATTTTATGGA	0.378								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	ovary(1)	5											59	59	59					5																	74848304		2203	4300	6503	74884060	SO:0001583	missense	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.143G>T	5.37:g.74848304G>T	ENSP00000241436:p.Arg48Ile		74884060	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567527	0.45694	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526	T;T;T;T;T	0.56275	1.17;0.47;0.64;0.64;0.47	6.07	1.39	0.22231	.	0.364017	0.37095	N	0.002254	T	0.66346	0.2780	M	0.72894	2.215	0.80722	D	1	D;P;D;P	0.76494	0.999;0.7;0.987;0.837	D;B;D;P	0.68483	0.958;0.197;0.943;0.633	T	0.65590	-0.6131	10	0.87932	D	0	-12.1417	10.361	0.43994	0.4422:0.0:0.5578:0.0	.	48;48;48;48	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	I	48	ENSP00000241436:R48I;ENSP00000342256:R48I;ENSP00000424174:R48I;ENSP00000425075:R48I;ENSP00000426853:R48I	ENSP00000241436:R48I	R	+	2	0	POLK	74884060	1.000000	0.71417	0.997000	0.53966	0.078000	0.17371	0.987000	0.29603	-0.028000	0.13850	-0.143000	0.13931	AGA		0.378	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		T	74848304	G	T	74848304	3	4	411	1	0	0	0	0	1	0	0	0	12204	942	33	3	149	3	POLK	5	74848304	Missense_Mutation	SNP	G	TCGA-59-2350-01A-01W-0799-08		74848304	106066956	2	22481											
TGFBI	7045	broad.mit.edu	37	5	135389657	135389657	+	Silent	SNP	A	A	C			TCGA-59-2350-01A-01W-0799-08	TCGA-59-2350-11A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b7e15a1a-4376-4756-97b0-f2aaab07efc1	5e2502bb-ad3c-45cb-a698-739139e52e2e	g.chr5:135389657A>C	ENST00000442011.2	+	9	1313	c.1152A>C	c.(1150-1152)gcA>gcC	p.A384A	TGFBI_ENST00000305126.8_Silent_p.A384A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	384	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.A384A(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATTGGCTGCAGAGTCTGATG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	5											85	86	85					5																	135389657		1918	4147	6065	135417556	SO:0001819	synonymous_variant	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1152A>C	5.37:g.135389657A>C			135417556	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	CCDS47266.1																																																																																				0.488	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			C	135389657	A	C	135389657	2	2	411	1	0	0	0	0	0	0	0	1	15820	175	7	5		5	TGFBI	5	135389657	Silent	SNP	A	TCGA-59-2350-01A-01W-0799-08	60541353	135389657	45525603	3	22482											
DSE	29940	broad.mit.edu	37	6	116756869	116756873	+	Frame_Shift_Del	DEL	CTTTC	CTTTC	-			TCGA-59-2350-01A-01W-0799-08	TCGA-59-2350-11A-01W-0800-08	CTTTC	CTTTC	-	-	CTTTC	CTTTC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	b7e15a1a-4376-4756-97b0-f2aaab07efc1	5e2502bb-ad3c-45cb-a698-739139e52e2e	g.chr6:116756869_116756873delCTTTC	ENST00000331677.3	+	7	1682_1686	c.1238_1242delCTTTC	c.(1237-1242)tctttcfs	p.SF413fs	DSE_ENST00000452085.3_Frame_Shift_Del_p.SF413fs|DSE_ENST00000359564.2_Frame_Shift_Del_p.SF413fs|DSE_ENST00000537543.1_Frame_Shift_Del_p.SF432fs			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	413					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.S416fs*12(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATCAATAGATCTTTCCTTTCCTTCA	0.424																																																1	Deletion - Frameshift(1)	ovary(1)	6																																								116863566	SO:0001589	frameshift_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1238_1242delCTTTC	6.37:g.116756874_116756878delCTTTC	ENSP00000332151:p.Ser413fs		116863562	Q5R3K6	Frame_Shift_Del	DEL	ENST00000331677.3	37	CCDS5107.1																																																																																				0.424	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		-	116756873	CTTTC	-	116756869	7	5	411	1	0	1	0	1	0	0	0	0	4774	913	32	0	1256	0	DSE	6	116756869	Frame_Shift_Del	DEL	CTTTC	TCGA-59-2350-01A-01W-0799-08		116756869	54358198	4	22483											
ZCCHC6	79670	broad.mit.edu	37	9	88924132	88924132	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2350-01A-01W-0799-08	TCGA-59-2350-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b7e15a1a-4376-4756-97b0-f2aaab07efc1	5e2502bb-ad3c-45cb-a698-739139e52e2e	g.chr9:88924132C>T	ENST00000375963.3	-	21	3827	c.3655G>A	c.(3655-3657)Gaa>Aaa	p.E1219K	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E983K|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.E508K|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1181K|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E119K	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1219					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.E1219K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CGTACCAGTTCATCTATTTGA	0.259																																																1	Substitution - Missense(1)	ovary(1)	9											32	36	35					9																	88924132		2176	4260	6436	88113952	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3655G>A	9.37:g.88924132C>T	ENSP00000365130:p.Glu1219Lys		88113952	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376422	0.61735	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.53	5.53	0.82687	.	0.221122	0.46442	D	0.000298	T	0.60996	0.2312	M	0.64997	1.995	0.43342	D	0.995395	P;P;B	0.49559	0.925;0.508;0.02	P;B;B	0.49597	0.616;0.372;0.032	T	0.54241	-0.8323	10	0.23891	T	0.37	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	1181;983;1219	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	K	508;983;1181;119;1219	ENSP00000277141:E508K;ENSP00000365127:E983K;ENSP00000365128:E1181K;ENSP00000365124:E119K;ENSP00000365130:E1219K	ENSP00000277141:E508K	E	-	1	0	ZCCHC6	88113952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.398000	0.59697	2.882000	0.98803	0.655000	0.94253	GAA		0.259	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		T	88924132	C	T	88924132	3	4	411	1	0	0	0	0	1	0	0	0	17592	835	29	2	860	2	ZCCHC6	9	88924132	Missense_Mutation	SNP	C	TCGA-59-2350-01A-01W-0799-08		88924132	52289299	5	22484											
CTSL1	1514	broad.mit.edu	37	9	90343677	90343677	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2350-01A-01W-0799-08	TCGA-59-2350-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b7e15a1a-4376-4756-97b0-f2aaab07efc1	5e2502bb-ad3c-45cb-a698-739139e52e2e	g.chr9:90343677G>A	ENST00000343150.5	+	5	1464	c.574G>A	c.(574-576)Gat>Aat	p.D192N	CTSL_ENST00000340342.6_Missense_Mutation_p.D192N|CTSL_ENST00000342020.5_Missense_Mutation_p.D192N|CTSL_ENST00000495822.1_3'UTR			P07711	CATL1_HUMAN	cathepsin L	192					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.D192N(1)									GTATGTTCAGGATAATGGAGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	9											104	94	97					9																	90343677		2203	4300	6503	89533497	SO:0001583	missense	1514			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.574G>A	9.37:g.90343677G>A	ENSP00000345344:p.Asp192Asn		89533497	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264078	0.39995	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.21734	1.99;1.99;1.99	4.51	1.21	0.21127	Peptidase C1A, papain C-terminal (2);	0.141383	0.64402	D	0.000008	T	0.16811	0.0404	L	0.52206	1.635	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06006	-1.0851	10	0.59425	D	0.04	.	6.2618	0.20903	0.1766:0.0:0.6819:0.1414	.	192	P07711	CATL1_HUMAN	N	192	ENSP00000345344:D192N;ENSP00000365061:D192N;ENSP00000340470:D192N	ENSP00000365061:D192N	D	+	1	0	CTSL1	89533497	1.000000	0.71417	0.001000	0.08648	0.013000	0.08279	2.199000	0.42715	0.381000	0.24851	0.655000	0.94253	GAT		0.483	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		A	90343677	G	A	90343677	3	1	411	1	0	0	0	0	1	0	0	0	4038	1174	41	2	588	2	CTSL1	9	90343677	Missense_Mutation	SNP	G	TCGA-59-2350-01A-01W-0799-08	1419545	90343677	50869754	6	22485											
ME3	10873	broad.mit.edu	37	11	86152477	86152477	+	Silent	SNP	G	G	A			TCGA-59-2350-01A-01W-0799-08	TCGA-59-2350-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	b7e15a1a-4376-4756-97b0-f2aaab07efc1	5e2502bb-ad3c-45cb-a698-739139e52e2e	g.chr11:86152477G>A	ENST00000393324.3	-	14	1912	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	ME3_ENST00000359636.2_Silent_p.L553L|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Silent_p.L553L	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	553					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.L553L(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				ACGCGTAGTCGAGAACCTAGA	0.493																																																1	Substitution - coding silent(1)	ovary(1)	11											159	149	152					11																	86152477		2202	4299	6501	85830125	SO:0001819	synonymous_variant	10873			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1659C>T	11.37:g.86152477G>A			85830125	B7Z6V0|Q8TBJ0	Silent	SNP	ENST00000393324.3	37	CCDS8277.1																																																																																				0.493	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			A	86152477	G	A	86152477	2	1	411	1	0	0	0	0	0	0	0	1	9419	1045	37	1		1	ME3	11	86152477	Silent	SNP	G	TCGA-59-2350-01A-01W-0799-08		86152477	48854039	7	22486											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-59-2350-01A-01W-0799-08	TCGA-59-2350-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b7e15a1a-4376-4756-97b0-f2aaab07efc1	5e2502bb-ad3c-45cb-a698-739139e52e2e	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	411	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-59-2350-01A-01W-0799-08		7578190	73617020	8	22487											
CAMTA1	23261	broad.mit.edu	37	1	7811267	7811267	+	Silent	SNP	T	T	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:7811267T>A	ENST00000303635.7	+	20	4905	c.4698T>A	c.(4696-4698)ctT>ctA	p.L1566L	CAMTA1_ENST00000476864.1_Silent_p.L130L|CAMTA1_ENST00000439411.2_Silent_p.L1552L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1566	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L1566L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGTACGCACTTTATAAAAAGA	0.493			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - coding silent(1)	ovary(1)	1											195	210	205					1																	7811267		2203	4300	6503	7733854	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4698T>A	1.37:g.7811267T>A			7733854	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426440	0.25726	.	.	ENSG00000171735	ENST00000495233;ENST00000490905	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	T	0.72087	0.3417	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71328	-0.4626	4	.	.	.	-7.3596	15.8787	0.79185	0.0:0.0:0.0:1.0	.	.	.	.	Y	530;132	.	.	F	+	2	0	CAMTA1	7733854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.182000	0.58310	2.139000	0.66308	0.533000	0.62120	TTT		0.493	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		A	7811267	T	A	7811267	2	1	412	1	0	0	0	0	0	0	0	1	2613	1828	64	5		5	CAMTA1	1	7811267	Silent	SNP	T	TCGA-59-2351-01A-01W-0799-08		7811267	241439354	1	22488											
C8B	732	broad.mit.edu	37	1	57415368	57415368	+	Missense_Mutation	SNP	G	G	C	rs150146785	byFrequency	TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:57415368G>C	ENST00000371237.4	-	6	790	c.724C>G	c.(724-726)Cgc>Ggc	p.R242G	C8B_ENST00000535057.1_Missense_Mutation_p.R180G|C8B_ENST00000543257.1_Missense_Mutation_p.R190G	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	242	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.R242C(1)|p.R242G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTGACATTGCGTTCAAAATCT	0.338																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	1											88	87	87					1																	57415368		2202	4299	6501	57187956	SO:0001583	missense	732			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.724C>G	1.37:g.57415368G>C	ENSP00000360281:p.Arg242Gly		57187956	A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	8.844	0.942859	0.18281	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.28255	1.78;1.79;1.62	5.19	3.19	0.36642	Membrane attack complex component/perforin (MACPF) domain (1);	1.053100	0.07284	N	0.871299	T	0.30603	0.0770	L	0.50333	1.59	0.09310	N	1	B;B;B	0.28082	0.151;0.151;0.2	B;B;B	0.25987	0.065;0.065;0.041	T	0.25950	-1.0117	10	0.52906	T	0.07	-0.8703	9.8148	0.40846	0.0801:0.0:0.7048:0.2151	.	190;180;242	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	G	242;190;180	ENSP00000360281:R242G;ENSP00000442548:R190G;ENSP00000440113:R180G	ENSP00000360281:R242G	R	-	1	0	C8B	57187956	0.009000	0.17119	0.125000	0.21846	0.376000	0.30014	-0.028000	0.12350	1.318000	0.45170	0.591000	0.81541	CGC		0.338	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			C	57415368	G	C	57415368	3	2	412	1	0	0	0	0	1	0	0	0	2417	1145	40	3	1079	3	C8B	1	57415368	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	49604101	57415368	191835253	2	22489											
ZZZ3	26009	broad.mit.edu	37	1	78041807	78041807	+	Silent	SNP	A	A	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:78041807A>G	ENST00000370801.3	-	12	2752	c.2277T>C	c.(2275-2277)gaT>gaC	p.D759D	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Silent_p.D265D	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	759					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D759D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ATCGGTCATCATCTTCATCCA	0.393																																																1	Substitution - coding silent(1)	ovary(1)	1											200	181	188					1																	78041807		2203	4300	6503	77814395	SO:0001819	synonymous_variant	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2277T>C	1.37:g.78041807A>G			77814395	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	37	CCDS677.1																																																																																				0.393	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		G	78041807	A	G	78041807	2	3	412	1	0	0	0	0	0	0	0	1	18256	214	8	4		4	ZZZ3	1	78041807	Silent	SNP	A	TCGA-59-2351-01A-01W-0799-08	20626439	78041807	171208814	3	22490											
SORT1	6272	broad.mit.edu	37	1	109870143	109870143	+	Silent	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:109870143G>A	ENST00000256637.6	-	12	1510	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	SORT1_ENST00000538502.1_Silent_p.A347A	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	484					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.A484A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CAATGCCTACGGCATTCGGCT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	1											93	82	86					1																	109870143		2203	4300	6503	109671666	SO:0001819	synonymous_variant	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1452C>T	1.37:g.109870143G>A			109671666	B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	CCDS798.1																																																																																				0.498	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		A	109870143	G	A	109870143	2	1	412	1	0	0	0	0	0	0	0	1	14938	1103	39	1		1	SORT1	1	109870143	Silent	SNP	G	TCGA-59-2351-01A-01W-0799-08	31828336	109870143	139380478	4	22491											
FLG2	388698	broad.mit.edu	37	1	152325862	152325862	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:152325862G>A	ENST00000388718.5	-	3	4472	c.4400C>T	c.(4399-4401)aCt>aTt	p.T1467I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1467					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T1467I(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGAGTAGTTCCGTGTCT	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											446	396	413					1																	152325862		2203	4300	6503	150592486	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4400C>T	1.37:g.152325862G>A	ENSP00000373370:p.Thr1467Ile		150592486	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095023	0.20471	.	.	ENSG00000143520	ENST00000388718	T	0.51817	0.69	2.59	1.65	0.23941	.	.	.	.	.	T	0.23014	0.0556	M	0.63843	1.955	0.09310	N	1	B	0.24721	0.11	B	0.27500	0.08	T	0.30504	-0.9976	9	0.49607	T	0.09	0.0011	5.4653	0.16639	0.1701:0.0:0.8299:0.0	.	1467	Q5D862	FILA2_HUMAN	I	1467	ENSP00000373370:T1467I	ENSP00000373370:T1467I	T	-	2	0	FLG2	150592486	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.605000	0.05661	0.457000	0.26962	0.297000	0.19635	ACT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152325862	G	A	152325862	3	1	412	1	0	0	0	0	1	0	0	0	5923	1029	36	2	2779	2	FLG2	1	152325862	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	42455719	152325862	96924759	5	22492											
S100A2	6273	broad.mit.edu	37	1	153533949	153533949	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:153533949T>C	ENST00000368708.3	-	3	632	c.260A>G	c.(259-261)aAt>aGt	p.N87S	S100A2_ENST00000368710.1_Missense_Mutation_p.N87S|S100A2_ENST00000497140.1_Missense_Mutation_p.N54S|S100A2_ENST00000368709.1_Missense_Mutation_p.N87S|S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000487430.2_Missense_Mutation_p.N87S	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	88					endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)	p.N87S(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	GAAGAAGTCATTGCACATGAC	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											191	183	186					1																	153533949		2203	4300	6503	151800573	SO:0001583	missense	6273			BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"S100 calcium binding proteins", "EF-hand domain containing"	10492	protein-coding gene	gene with protein product		176993	"S100 calcium-binding protein A2"	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.260A>G	1.37:g.153533949T>C	ENSP00000357697:p.Asn87Ser		151800573	O00266|Q3KRB9|Q5RHS8|Q9BU83	Missense_Mutation	SNP	ENST00000368708.3	37	CCDS1044.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.045769	0.36085	.	.	ENSG00000196754	ENST00000368708;ENST00000368710;ENST00000368709;ENST00000368707	T;T;T	0.14144	2.53;2.53;2.53	4.79	3.63	0.41609	EF-hand-like domain (1);	0.140459	0.44688	D	0.000435	T	0.03434	0.0099	.	.	.	0.29297	N	0.868948	P	0.45768	0.866	B	0.34489	0.184	T	0.28964	-1.0027	9	0.66056	D	0.02	.	7.4649	0.27316	0.0:0.1048:0.0:0.8952	.	88	P29034	S10A2_HUMAN	S	87;87;87;128	ENSP00000357697:N87S;ENSP00000357699:N87S;ENSP00000357698:N87S	ENSP00000357696:N128S	N	-	2	0	S100A2	151800573	0.992000	0.36948	0.970000	0.41538	0.580000	0.36256	2.320000	0.43797	1.920000	0.55613	0.533000	0.62120	AAT		0.537	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978		C	153533949	T	C	153533949	3	2	412	1	0	0	0	0	1	0	0	0	13781	1493	52	4	37	4	S100A2	1	153533949	Missense_Mutation	SNP	T	TCGA-59-2351-01A-01W-0799-08	1208087	153533949	95716672	6	22493											
ATP1A4	480	broad.mit.edu	37	1	160128842	160128842	+	Silent	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:160128842G>A	ENST00000368081.4	+	5	1047	c.576G>A	c.(574-576)gaG>gaA	p.E192E		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	192					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.E192E(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTACAAGAGGTGGTGTTGG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	1											132	117	122					1																	160128842		2203	4300	6503	158395466	SO:0001819	synonymous_variant	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.576G>A	1.37:g.160128842G>A			158395466	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																				0.488	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		A	160128842	G	A	160128842	2	1	412	1	0	0	0	0	0	0	0	1	1131	991	35	2		2	ATP1A4	1	160128842	Silent	SNP	G	TCGA-59-2351-01A-01W-0799-08	6594893	160128842	89121779	7	22494											
SCYL3	57147	broad.mit.edu	37	1	169823884	169823884	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:169823884C>T	ENST00000367770.1	-	12	1743	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	SCYL3_ENST00000367771.6_Missense_Mutation_p.E512K|SCYL3_ENST00000367772.4_Missense_Mutation_p.E566K			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	566	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.E512K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATGACTCTTCCACATCCAAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											116	116	116					1																	169823884		2203	4300	6503	168090508	SO:0001583	missense	57147			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1696G>A	1.37:g.169823884C>T	ENSP00000356744:p.Glu566Lys		168090508	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	C	9.862	1.196570	0.22037	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.15834	2.48;2.47;2.48;2.39	5.74	0.0455	0.14230	.	2.474260	0.01387	N	0.013127	T	0.04588	0.0125	L	0.60455	1.87	0.09310	N	1	B;B;B	0.14438	0.01;0.001;0.002	B;B;B	0.16722	0.016;0.002;0.004	T	0.25745	-1.0123	10	0.11794	T	0.64	-0.024	2.5486	0.04743	0.1174:0.3293:0.3435:0.2099	.	158;512;566	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	K	566;512;566;512	ENSP00000356746:E566K;ENSP00000356745:E512K;ENSP00000356744:E566K;ENSP00000407993:E512K	ENSP00000356744:E566K	E	-	1	0	SCYL3	168090508	0.013000	0.17824	0.000000	0.03702	0.011000	0.07611	1.450000	0.35134	-0.249000	0.09569	-0.181000	0.13052	GAA		0.478	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		T	169823884	C	T	169823884	3	4	412	1	0	0	0	0	1	0	0	0	13952	864	30	2	540	2	SCYL3	1	169823884	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	9695042	169823884	79426737	8	22495											
RGL1	23179	broad.mit.edu	37	1	183874041	183874041	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:183874041A>C	ENST00000360851.3	+	13	1586	c.1408A>C	c.(1408-1410)Atg>Ctg	p.M470L	RGL1_ENST00000304685.4_Missense_Mutation_p.M505L|RGL1_ENST00000539189.1_Missense_Mutation_p.M441L|RGL1_ENST00000536277.1_Missense_Mutation_p.M468L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	470	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.M505L(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CAGCTATTGCATGACCCCAGA	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											127	125	125					1																	183874041		2203	4300	6503	182140664	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1408A>C	1.37:g.183874041A>C	ENSP00000354097:p.Met470Leu		182140664	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	A	1.352	-0.591034	0.03799	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.52	5.52	0.82312	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.046816	0.85682	D	0.000000	T	0.04497	0.0123	N	0.00080	-2.225	0.46458	D	0.999059	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.0;0.0;0.001	T	0.36212	-0.9757	10	0.02654	T	1	.	10.5366	0.45007	0.8556:0.0:0.0:0.1444	.	441;468;275;470;505	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	L	505;505;468;275;470;441	ENSP00000303192:M505L;ENSP00000356501:M505L;ENSP00000438662:M468L;ENSP00000354097:M470L;ENSP00000437355:M441L	ENSP00000303192:M505L	M	+	1	0	RGL1	182140664	0.990000	0.36364	0.936000	0.37596	0.503000	0.33858	2.819000	0.48049	2.093000	0.63338	0.528000	0.53228	ATG		0.453	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		C	183874041	A	C	183874041	3	2	412	1	0	0	0	0	1	0	0	0	13279	217	8	5	1563	5	RGL1	1	183874041	Missense_Mutation	SNP	A	TCGA-59-2351-01A-01W-0799-08	14050157	183874041	65376580	9	22496											
HMCN1	83872	broad.mit.edu	37	1	186008099	186008099	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:186008099C>G	ENST00000271588.4	+	38	6219	c.5990C>G	c.(5989-5991)gCt>gGt	p.A1997G	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1997G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1997	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A1997G(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAACTCAGCTGGAGCTACA	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											102	95	97					1																	186008099		2203	4300	6503	184274722	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5990C>G	1.37:g.186008099C>G	ENSP00000271588:p.Ala1997Gly		184274722	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128436	0.94473	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68624	-0.34;-0.34	5.85	5.85	0.93711	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81273	0.4788	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78003	-0.2374	10	0.36615	T	0.2	.	19.7585	0.96304	0.0:1.0:0.0:0.0	.	1997	Q96RW7	HMCN1_HUMAN	G	1997	ENSP00000271588:A1997G;ENSP00000356462:A1997G	ENSP00000271588:A1997G	A	+	2	0	HMCN1	184274722	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.413000	0.66399	2.773000	0.95371	0.655000	0.94253	GCT		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186008099	C	G	186008099	3	3	412	1	0	0	0	0	1	0	0	0	7220	797	28	3	6140	3	HMCN1	1	186008099	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	2134058	186008099	63242522	10	22497											
CFH	3075	broad.mit.edu	37	1	196695952	196695952	+	Silent	SNP	C	C	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:196695952C>A	ENST00000367429.4	+	14	2358	c.2118C>A	c.(2116-2118)tcC>tcA	p.S706S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	706	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.S706S(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGCTTTCTTCCCCTCCTTATT	0.383																																																1	Substitution - coding silent(1)	ovary(1)	1											114	114	114					1																	196695952		2203	4300	6503	194962575	SO:0001819	synonymous_variant	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2118C>A	1.37:g.196695952C>A			194962575	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	CCDS1385.1																																																																																				0.383	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		A	196695952	C	A	196695952	2	1	412	1	0	0	0	0	0	0	0	1	3283	610	22	3		3	CFH	1	196695952	Silent	SNP	C	TCGA-59-2351-01A-01W-0799-08	10687853	196695952	52554669	11	22498											
HEATR1	55127	broad.mit.edu	37	1	236748330	236748330	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:236748330C>T	ENST00000366582.3	-	17	2350	c.2236G>A	c.(2236-2238)Gca>Aca	p.A746T	HEATR1_ENST00000366581.2_Missense_Mutation_p.A746T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	746					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.A746T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTACCACTGCAGTAATGACA	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											75	77	77					1																	236748330		2203	4300	6503	234814953	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2236G>A	1.37:g.236748330C>T	ENSP00000355541:p.Ala746Thr		234814953	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967150	0.34754	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.05258	3.49;3.47	5.93	1.48	0.22813	Armadillo-type fold (1);	0.573109	0.18996	N	0.125490	T	0.03390	0.0098	N	0.16307	0.4	0.18873	N	0.999982	B	0.02656	0.0	B	0.04013	0.001	T	0.46317	-0.9200	10	0.17369	T	0.5	.	6.5131	0.22232	0.1362:0.6266:0.0:0.2372	.	746	Q9H583	HEAT1_HUMAN	T	746	ENSP00000355541:A746T;ENSP00000355540:A746T	ENSP00000355540:A746T	A	-	1	0	HEATR1	234814953	0.506000	0.26139	0.249000	0.24280	0.133000	0.20885	0.431000	0.21444	0.396000	0.25283	-0.218000	0.12543	GCA		0.383	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		T	236748330	C	T	236748330	3	4	412	1	0	0	0	0	1	0	0	0	7027	710	25	2	4314	2	HEATR1	1	236748330	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	40052378	236748330	12502291	12	22499											
FMN2	56776	broad.mit.edu	37	1	240370875	240370875	+	Silent	SNP	T	T	C	rs200259735		TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr1:240370875T>C	ENST00000319653.9	+	5	2993	c.2763T>C	c.(2761-2763)ccT>ccC	p.P921P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	921	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1064P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCTCCTCCGCCGC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	1											41	47	45					1																	240370875		2203	4300	6503	238437498	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2763T>C	1.37:g.240370875T>C			238437498	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		C	240370875	T	C	240370875	2	2	412	1	0	0	0	0	0	0	0	1	5950	1538	54	4		4	FMN2	1	240370875	Silent	SNP	T	TCGA-59-2351-01A-01W-0799-08	3622545	240370875	8879746	13	22500											
KCNS3	3790	broad.mit.edu	37	2	18112771	18112771	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr2:18112771C>G	ENST00000403915.1	+	3	947	c.496C>G	c.(496-498)Cag>Gag	p.Q166E	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.Q166E	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	166					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.Q166E(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCGATTTGGTCAGCTCCGGAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											63	68	66					2																	18112771		2203	4300	6503	17976252	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.496C>G	2.37:g.18112771C>G	ENSP00000385968:p.Gln166Glu		17976252	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.815397	0.00073	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.96651	-4.08;-4.08	5.88	2.94	0.34122	.	0.272597	0.39909	N	0.001235	T	0.79263	0.4416	N	0.00462	-1.47	0.22305	N	0.999213	B	0.02656	0.0	B	0.01281	0.0	T	0.74450	-0.3661	10	0.02654	T	1	.	4.3702	0.11244	0.126:0.459:0.3281:0.0869	.	166	Q9BQ31	KCNS3_HUMAN	E	166	ENSP00000385968:Q166E;ENSP00000305824:Q166E	ENSP00000305824:Q166E	Q	+	1	0	KCNS3	17976252	1.000000	0.71417	0.564000	0.28396	0.015000	0.08874	4.063000	0.57499	1.500000	0.48636	-0.136000	0.14681	CAG		0.502	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		G	18112771	C	G	18112771	3	3	412	1	0	0	0	0	1	0	0	0	8090	827	29	3	498	3	KCNS3	2	18112771	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08		18112771	225086602	14	22501											
ERCC3	2071	broad.mit.edu	37	2	128046408	128046408	+	Silent	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr2:128046408G>A	ENST00000285398.2	-	7	949	c.855C>T	c.(853-855)atC>atT	p.I285I	ERCC3_ENST00000493187.2_Silent_p.I221I	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	285					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.I285I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACTCCAGGTGGATGCAACGTT	0.438			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	1	Substitution - coding silent(1)	ovary(1)	2											155	159	157					2																	128046408		2203	4300	6503	127762878	SO:0001819	synonymous_variant	2071	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.855C>T	2.37:g.128046408G>A			127762878	Q53QM0	Silent	SNP	ENST00000285398.2	37	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	G	6.277	0.419221	0.11870	.	.	ENSG00000163161	ENST00000456257	.	.	.	5.5	2.75	0.32379	.	.	.	.	.	T	0.53286	0.1787	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42172	-0.9467	4	.	.	.	-27.0873	4.9387	0.13954	0.2876:0.0:0.5763:0.1361	.	.	.	.	F	135	.	.	S	-	2	0	ERCC3	127762878	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	1.694000	0.37752	0.303000	0.22785	-0.768000	0.03414	TCC		0.438	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		A	128046408	G	A	128046408	2	1	412	1	0	0	0	0	0	0	0	1	5214	1164	41	2		2	ERCC3	2	128046408	Silent	SNP	G	TCGA-59-2351-01A-01W-0799-08	109933637	128046408	115152965	15	22502											
LRP2	4036	broad.mit.edu	37	2	170034471	170034471	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr2:170034471G>T	ENST00000263816.3	-	53	10520	c.10235C>A	c.(10234-10236)gCt>gAt	p.A3412D	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3412					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A3412D(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AATGGTAATAGCGAAAGGGTG	0.433																																																1	Substitution - Missense(1)	ovary(1)	2											182	157	165					2																	170034471		2203	4300	6503	169742717	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10235C>A	2.37:g.170034471G>T	ENSP00000263816:p.Ala3412Asp		169742717	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457461	0.84317	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.96491	-4.03	5.67	4.78	0.61160	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98198	1.0466	10	0.62326	D	0.03	.	16.6992	0.85344	0.0:0.1295:0.8705:0.0	.	3412	P98164	LRP2_HUMAN	D	3412;107	ENSP00000263816:A3412D	ENSP00000263816:A3412D	A	-	2	0	LRP2	169742717	1.000000	0.71417	0.894000	0.35097	0.650000	0.38633	6.745000	0.74860	1.362000	0.46000	0.650000	0.86243	GCT		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170034471	G	T	170034471	3	4	412	1	0	0	0	0	1	0	0	0	8956	971	34	3	3840	3	LRP2	2	170034471	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	41988063	170034471	73164902	16	22503											
TTN	7273	broad.mit.edu	37	2	179393799	179393799	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr2:179393799T>G	ENST00000591111.1	-	310	101980	c.101756A>C	c.(101755-101757)aAg>aCg	p.K33919T	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K26687T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K35560T|TTN_ENST00000342992.6_Missense_Mutation_p.K32992T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K26620T|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K26495T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33919					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K32990T(1)|p.K26495T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGGCTAACTTTTCTTGAGA	0.403																																																2	Substitution - Missense(2)	ovary(2)	2											89	82	85					2																	179393799		1822	4077	5899	179102045	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101756A>C	2.37:g.179393799T>G	ENSP00000465570:p.Lys33919Thr		179102045	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.02	2.410602	0.42715	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65178	-0.14;0.26;0.23;0.22	5.54	4.37	0.52481	Ribonuclease H-like (1);	.	.	.	.	T	0.46054	0.1373	N	0.17082	0.46	0.23685	N	0.997111	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.001;0.003	T	0.41716	-0.9493	9	0.87932	D	0	.	9.3908	0.38372	0.0:0.0:0.1883:0.8117	.	26495;26620;26687;33919;32992	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	T	32992;26495;26687;26620;26492	ENSP00000343764:K32992T;ENSP00000434586:K26495T;ENSP00000340554:K26687T;ENSP00000352154:K26620T	ENSP00000340554:K26687T	K	-	2	0	TTN	179102045	0.996000	0.38824	0.972000	0.41901	0.881000	0.50899	2.665000	0.46791	0.917000	0.36895	0.533000	0.62120	AAG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179393799	T	G	179393799	3	3	412	1	0	0	0	0	1	0	0	0	16735	1609	56	5	1312	5	TTN	2	179393799	Missense_Mutation	SNP	T	TCGA-59-2351-01A-01W-0799-08	9359328	179393799	63805574	17	22504											
ZPLD1	131368	broad.mit.edu	37	3	102187907	102187907	+	Silent	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr3:102187907G>A	ENST00000491959.1	+	15	1743	c.861G>A	c.(859-861)caG>caA	p.Q287Q	ZPLD1_ENST00000306176.1_Silent_p.Q303Q|ZPLD1_ENST00000466937.1_Silent_p.Q287Q			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	287	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.Q303Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACAAGAATCAGAAAATGTCCA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	3											127	123	124					3																	102187907		2203	4300	6503	103670597	SO:0001819	synonymous_variant	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.861G>A	3.37:g.102187907G>A			103670597	Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37																																																																																					0.478	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		A	102187907	G	A	102187907	2	1	412	1	0	0	0	0	0	0	0	1	18221	933	33	2		2	ZPLD1	3	102187907	Silent	SNP	G	TCGA-59-2351-01A-01W-0799-08		102187907	95834523	18	22505											
MYLK	4638	broad.mit.edu	37	3	123451760	123451760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr3:123451760C>T	ENST00000475616.1	-	8	1498	c.1499G>A	c.(1498-1500)tGg>tAg	p.W500*	MYLK_ENST00000360304.3_Nonsense_Mutation_p.W500*|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360772.3_Nonsense_Mutation_p.W500*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.W500*			Q15746	MYLK_HUMAN	myosin light chain kinase	500	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.W500*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGGAGGGTCCAGCTACAGGA	0.572																																																1	Substitution - Nonsense(1)	ovary(1)	3											73	58	63					3																	123451760		2203	4300	6503	124934450	SO:0001587	stop_gained	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1499G>A	3.37:g.123451760C>T	ENSP00000418335:p.Trp500*		124934450	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Nonsense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	42	9.731948	0.99249	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.6554	0.88176	0.0:1.0:0.0:0.0	.	.	.	.	X	500	.	ENSP00000352088:W500X	W	-	2	0	MYLK	124934450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.504000	0.66968	2.710000	0.92621	0.591000	0.81541	TGG		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		T	123451760	C	T	123451760	4	4	412	1	0	0	0	0	0	1	0	0	10056	595	21	2	4341	2	MYLK	3	123451760	Nonsense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	21263853	123451760	74570670	19	22506											
KALRN	8997	broad.mit.edu	37	3	124436217	124436217	+	Silent	SNP	A	A	T	rs142823302		TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr3:124436217A>T	ENST00000291478.5	+	26	3472	c.3309A>T	c.(3307-3309)gcA>gcT	p.A1103A	KALRN_ENST00000360013.3_Silent_p.A2800A|KALRN_ENST00000428018.2_Silent_p.A1071A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2799					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.A1103A(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						GCAGGGTTGCACATTTGGACA	0.488																																																1	Substitution - coding silent(1)	ovary(1)	3											70	66	68					3																	124436217		2203	4300	6503	125918907	SO:0001819	synonymous_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	ENST00000291478.5:c.3309A>T	3.37:g.124436217A>T			125918907	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276200	0.23307	.	.	ENSG00000160145	ENST00000354186	.	.	.	4.87	-8.62	0.00881	.	.	.	.	.	T	0.34337	0.0894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44205	-0.9343	4	.	.	.	.	2.0032	0.03471	0.1606:0.4014:0.1632:0.2748	.	.	.	.	L	2769	.	.	H	+	2	0	KALRN	125918907	0.150000	0.22732	0.929000	0.37066	0.987000	0.75469	-0.428000	0.06991	-1.092000	0.03062	0.460000	0.39030	CAC		0.488	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		T	124436217	A	T	124436217	2	4	412	1	0	0	0	0	0	0	0	1	7975	146	6	5		5	KALRN	3	124436217	Silent	SNP	A	TCGA-59-2351-01A-01W-0799-08	984457	124436217	73586213	20	22507											
EIF2B5	8893	broad.mit.edu	37	3	183861929	183861929	+	Missense_Mutation	SNP	C	C	T	rs541227484		TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr3:183861929C>T	ENST00000273783.3	+	14	2034	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	EIF2B5_ENST00000444495.1_Missense_Mutation_p.R638C	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	638	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.R638C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTACATAAAGCGCGCAGCCGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	3											158	162	160					3																	183861929		2203	4300	6503	185344623	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1912C>T	3.37:g.183861929C>T	ENSP00000273783:p.Arg638Cys		185344623	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	17.43	3.387119	0.61956	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	T;T	0.80824	-1.42;-1.42	5.83	5.83	0.93111	eIF4-gamma/eIF5/eIF2-epsilon (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.60415	0.874;0.873	D	0.89429	0.3715	10	0.56958	D	0.05	.	20.1218	0.97964	0.0:1.0:0.0:0.0	.	638;638	E9PC74;Q13144	.;EI2BE_HUMAN	C	638	ENSP00000273783:R638C;ENSP00000409142:R638C	ENSP00000273783:R638C	R	+	1	0	EIF2B5	185344623	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	4.124000	0.57924	2.763000	0.94921	0.561000	0.74099	CGC		0.473	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			T	183861929	C	T	183861929	3	4	412	1	0	0	0	0	1	0	0	0	5004	768	27	1	1966	1	EIF2B5	3	183861929	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	59425712	183861929	14160501	21	22508											
EIF4G1	1981	broad.mit.edu	37	3	184041297	184041297	+	Silent	SNP	A	A	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr3:184041297A>G	ENST00000346169.2	+	15	2461	c.2190A>G	c.(2188-2190)gcA>gcG	p.A730A	EIF4G1_ENST00000382330.3_Silent_p.A737A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.A691A|EIF4G1_ENST00000319274.6_Silent_p.A730A|EIF4G1_ENST00000435046.2_Silent_p.A534A|EIF4G1_ENST00000427845.1_Silent_p.A644A|EIF4G1_ENST00000441154.1_Silent_p.A567A|EIF4G1_ENST00000350481.5_Silent_p.A566A|EIF4G1_ENST00000424196.1_Silent_p.A737A|EIF4G1_ENST00000392537.2_Silent_p.A643A|EIF4G1_ENST00000434061.2_Silent_p.A535A|EIF4G1_ENST00000414031.1_Silent_p.A690A|EIF4G1_ENST00000342981.4_Silent_p.A731A|EIF4G1_ENST00000352767.3_Silent_p.A737A|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	730	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.A730A(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAACAAAGCAGAGAAAGCCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	3											103	109	107					3																	184041297		2203	4300	6503	185523991	SO:0001819	synonymous_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2190A>G	3.37:g.184041297A>G			185523991	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.547	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		G	184041297	A	G	184041297	2	3	412	1	0	0	0	0	0	0	0	1	5036	175	7	4		4	EIF4G1	3	184041297	Silent	SNP	A	TCGA-59-2351-01A-01W-0799-08	179368	184041297	13981133	22	22509											
TP63	8626	broad.mit.edu	37	3	189585724	189585724	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr3:189585724A>C	ENST00000264731.3	+	7	1074	c.985A>C	c.(985-987)Acc>Ccc	p.T329P	TP63_ENST00000392463.2_Missense_Mutation_p.T235P|TP63_ENST00000354600.5_Missense_Mutation_p.T235P|TP63_ENST00000437221.1_Missense_Mutation_p.T235P|TP63_ENST00000449992.1_Missense_Mutation_p.T150P|TP63_ENST00000320472.5_Missense_Mutation_p.T329P|TP63_ENST00000392460.3_Missense_Mutation_p.T329P|TP63_ENST00000440651.2_Missense_Mutation_p.T329P|TP63_ENST00000392461.3_Missense_Mutation_p.T235P|TP63_ENST00000456148.1_Missense_Mutation_p.T235P|TP63_ENST00000382063.4_Missense_Mutation_p.T244P|TP63_ENST00000418709.2_Missense_Mutation_p.T329P	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	329					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.T329P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TACTCTGGAAACCAGAGAGTA	0.403										HNSCC(45;0.13)																																						1	Substitution - Missense(1)	ovary(1)	3											76	70	72					3																	189585724		2203	4300	6503	191068418	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.985A>C	3.37:g.189585724A>C	ENSP00000264731:p.Thr329Pro		191068418	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.180462	0.78677	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99773	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.72;-6.66	5.61	4.44	0.53790	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	0.99622	0.9862	M	0.75615	2.305	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.71674	0.994;0.951;0.997;0.963;0.994;0.987;0.97;0.982;0.998;0.963	D;P;D;D;D;D;D;D;D;D	0.76071	0.959;0.899;0.977;0.919;0.959;0.919;0.951;0.94;0.987;0.919	D	0.97698	1.0183	9	.	.	.	-3.4352	11.1089	0.48221	0.9262:0.0:0.0738:0.0	.	150;329;329;235;235;235;235;329;329;329	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	P	329;329;329;329;329;244;235;235;235;235;150;235	ENSP00000264731:T329P;ENSP00000407144:T329P;ENSP00000317510:T329P;ENSP00000376253:T329P;ENSP00000394337:T329P;ENSP00000371495:T244P;ENSP00000346614:T235P;ENSP00000392488:T235P;ENSP00000376256:T235P;ENSP00000376254:T235P;ENSP00000387839:T150P;ENSP00000389485:T235P	.	T	+	1	0	TP63	191068418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.014000	0.64029	2.143000	0.66587	0.533000	0.62120	ACC		0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		C	189585724	A	C	189585724	3	2	412	1	0	0	0	0	1	0	0	0	16392	43	2	5	1057	5	TP63	3	189585724	Missense_Mutation	SNP	A	TCGA-59-2351-01A-01W-0799-08	5544427	189585724	8436706	23	22510											
PROM1	8842	broad.mit.edu	37	4	15987617	15987617	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr4:15987617T>C	ENST00000510224.1	-	21	2422	c.2174A>G	c.(2173-2175)aAc>aGc	p.N725S	PROM1_ENST00000540805.1_Missense_Mutation_p.N725S|PROM1_ENST00000447510.2_Missense_Mutation_p.N725S|PROM1_ENST00000539194.1_Missense_Mutation_p.N725S|PROM1_ENST00000508167.1_Missense_Mutation_p.N716S|PROM1_ENST00000505450.1_Missense_Mutation_p.N716S|PROM1_ENST00000543373.1_Missense_Mutation_p.N716S			O43490	PROM1_HUMAN	prominin 1	725					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.N724S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGTGATGAAGTTCTGAGCAAA	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											65	58	60					4																	15987617		1857	4094	5951	15596715	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.2174A>G	4.37:g.15987617T>C	ENSP00000426809:p.Asn725Ser		15596715	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	T	8.769	0.925539	0.18056	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.14	-3.82	0.04281	.	1.241300	0.05129	N	0.492223	T	0.21674	0.0522	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B	0.29341	0.203;0.203;0.203;0.203;0.138;0.242	B;B;B;B;B;B	0.25987	0.061;0.061;0.039;0.061;0.033;0.065	T	0.14420	-1.0473	10	0.07482	T	0.82	-23.8439	2.6564	0.05013	0.2952:0.0645:0.1783:0.4619	.	716;725;716;725;716;725	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	S	725;725;725;716;716;725;716	ENSP00000415481:N725S;ENSP00000438045:N725S;ENSP00000443620:N725S;ENSP00000426090:N716S;ENSP00000427346:N716S;ENSP00000426809:N725S;ENSP00000445526:N716S	ENSP00000415481:N725S	N	-	2	0	PROM1	15596715	0.002000	0.14202	0.022000	0.16811	0.045000	0.14185	-0.035000	0.12205	-0.211000	0.10124	-0.321000	0.08615	AAC		0.368	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		C	15987617	T	C	15987617	3	2	412	1	0	0	0	0	1	0	0	0	12558	1725	60	4	451	4	PROM1	4	15987617	Missense_Mutation	SNP	T	TCGA-59-2351-01A-01W-0799-08		15987617	175166659	24	22511											
FAT1	2195	broad.mit.edu	37	4	187525561	187525561	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr4:187525561C>A	ENST00000441802.2	-	18	10727	c.10518G>T	c.(10516-10518)aaG>aaT	p.K3506N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3506	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K3506N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATCTTTCTCCTTCCTCTTGA	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											1	Substitution - Missense(1)	ovary(1)	4											114	111	112					4																	187525561		1933	4134	6067	187762555	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10518G>T	4.37:g.187525561C>A	ENSP00000406229:p.Lys3506Asn		187762555		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	6.717	0.500925	0.12822	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52057	0.68	5.74	-1.06	0.10002	Cadherin (4);Cadherin-like (1);	0.098319	0.64402	N	0.000002	T	0.33440	0.0863	L	0.42245	1.32	0.37618	D	0.921209	B	0.17038	0.02	B	0.21708	0.036	T	0.05869	-1.0859	10	0.42905	T	0.14	.	6.1215	0.20155	0.0:0.2823:0.1229:0.5948	.	3506	Q14517	FAT1_HUMAN	N	3506;3508	ENSP00000406229:K3506N	ENSP00000260147:K3508N	K	-	3	2	FAT1	187762555	0.974000	0.33945	0.547000	0.28179	0.005000	0.04900	0.649000	0.24843	-0.383000	0.07858	-0.471000	0.05019	AAG		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187525561	C	A	187525561	3	1	412	1	0	0	0	0	1	0	0	0	5689	680	24	3	3288	3	FAT1	4	187525561	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	171537944	187525561	3628715	25	22512											
FYB	2533	broad.mit.edu	37	5	39134990	39134990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr5:39134990C>A	ENST00000351578.6	-	8	1832	c.1642G>T	c.(1642-1644)Gga>Tga	p.G548*	FYB_ENST00000540520.1_Nonsense_Mutation_p.G558*|FYB_ENST00000515010.1_Nonsense_Mutation_p.G548*|FYB_ENST00000505428.1_Nonsense_Mutation_p.G548*|FYB_ENST00000512982.1_Nonsense_Mutation_p.G548*	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	548	SH3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.G548*(1)|p.G548R(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AACCATTTTCCTTCTGGGTTG	0.413																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|kidney(1)	5											184	173	177					5																	39134990		1894	4137	6031	39170747	SO:0001587	stop_gained	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1642G>T	5.37:g.39134990C>A	ENSP00000316460:p.Gly548*		39170747	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Nonsense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	39	7.737060	0.98462	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7922	20.3465	0.98790	0.0:1.0:0.0:0.0	.	.	.	.	X	548;548;548;548;558;548	.	ENSP00000316460:G548X	G	-	1	0	FYB	39170747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.270000	0.72563	2.798000	0.96311	0.655000	0.94253	GGA		0.413	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		A	39134990	C	A	39134990	4	1	412	1	0	0	0	0	0	1	0	0	6124	690	24	3	895	3	FYB	5	39134990	Nonsense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08		39134990	141780270	26	22513											
MCTP1	79772	broad.mit.edu	37	5	94244963	94244963	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr5:94244963T>G	ENST00000515393.1	-	10	1644	c.1645A>C	c.(1645-1647)Att>Ctt	p.I549L	MCTP1_ENST00000505078.1_Missense_Mutation_p.I65L|MCTP1_ENST00000429576.2_Missense_Mutation_p.I282L|MCTP1_ENST00000312216.8_Missense_Mutation_p.I328L|MCTP1_ENST00000505208.1_Missense_Mutation_p.I328L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	549	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.I549L(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AACCTGCCAATGAAATCATCC	0.358																																																1	Substitution - Missense(1)	ovary(1)	5											82	77	79					5																	94244963		2203	4300	6503	94270719	SO:0001583	missense	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1645A>C	5.37:g.94244963T>G	ENSP00000424126:p.Ile549Leu		94270719	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	7.833	0.720329	0.15372	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.68	5.68	0.88126	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093490	0.64402	D	0.000001	T	0.51346	0.1669	N	0.21097	0.63	0.58432	D	0.999999	B;B;B	0.18968	0.032;0.015;0.004	B;B;B	0.26614	0.071;0.015;0.013	T	0.48681	-0.9014	10	0.02654	T	1	-14.5208	15.9332	0.79683	0.0:0.0:0.0:1.0	.	549;282;328	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	L	549;282;65;328;269;210;328;150	ENSP00000424126:I549L;ENSP00000391639:I282L;ENSP00000426417:I65L;ENSP00000308957:I328L;ENSP00000423410:I269L;ENSP00000431075:I210L;ENSP00000426438:I328L;ENSP00000426294:I150L	ENSP00000308957:I328L	I	-	1	0	MCTP1	94270719	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.698000	0.84413	2.164000	0.68074	0.477000	0.44152	ATT		0.358	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		G	94244963	T	G	94244963	3	3	412	1	0	0	0	0	1	0	0	0	9400	1464	51	5	1410	5	MCTP1	5	94244963	Missense_Mutation	SNP	T	TCGA-59-2351-01A-01W-0799-08	55109973	94244963	86670297	27	22514											
ADAMTS19	171019	broad.mit.edu	37	5	129072908	129072908	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr5:129072908T>A	ENST00000274487.4	+	23	3766	c.3621T>A	c.(3619-3621)agT>agA	p.S1207R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1207						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1207R(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGCAGAAGAGTTGACCTCTAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	5											60	51	54					5																	129072908		2203	4300	6503	129100807	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3621T>A	5.37:g.129072908T>A	ENSP00000274487:p.Ser1207Arg		129100807		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260727	0.39995	.	.	ENSG00000145808	ENST00000274487	T	0.67698	-0.28	3.99	0.35	0.16037	.	0.077421	0.52532	D	0.000068	T	0.53384	0.1793	N	0.19112	0.55	0.37924	D	0.931784	P	0.47762	0.9	P	0.49451	0.611	T	0.50841	-0.8780	9	.	.	.	.	9.1002	0.36664	0.0:0.3127:0.0:0.6873	.	1207	Q8TE59	ATS19_HUMAN	R	1207	ENSP00000274487:S1207R	.	S	+	3	2	ADAMTS19	129100807	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	1.419000	0.34793	0.064000	0.16427	-0.385000	0.06624	AGT		0.438	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		A	129072908	T	A	129072908	3	1	412	1	0	0	0	0	1	0	0	0	264	1722	60	5	3711	5	ADAMTS19	5	129072908	Missense_Mutation	SNP	T	TCGA-59-2351-01A-01W-0799-08	34827945	129072908	51842352	28	22515											
UNC5CL	222643	broad.mit.edu	37	6	41002798	41002798	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr6:41002798T>C	ENST00000373164.1	-	1	76	c.16A>G	c.(16-18)Agt>Ggt	p.S6G	UNC5CL_ENST00000244565.3_Missense_Mutation_p.S6G|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	6					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.S6G(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGAATGAACTCTCCTGGGGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	6											56	50	52					6																	41002798		2203	4300	6503	41110776	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.16A>G	6.37:g.41002798T>C	ENSP00000362258:p.Ser6Gly		41110776	Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241201	0.22711	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.18016	2.24;2.24	4.49	1.98	0.26296	.	0.480260	0.19429	N	0.114481	T	0.03564	0.0102	L	0.29908	0.895	0.25397	N	0.988475	B	0.02656	0.0	B	0.01281	0.0	T	0.37731	-0.9693	10	0.87932	D	0	-1.2047	3.9386	0.09316	0.1822:0.101:0.0:0.7168	.	6	Q8IV45	UN5CL_HUMAN	G	6	ENSP00000244565:S6G;ENSP00000362258:S6G	ENSP00000244565:S6G	S	-	1	0	UNC5CL	41110776	0.257000	0.24022	0.660000	0.29694	0.436000	0.31835	0.687000	0.25407	0.236000	0.21180	0.460000	0.39030	AGT		0.602	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		C	41002798	T	C	41002798	3	2	412	1	0	0	0	0	1	0	0	0	16994	1551	54	4	1572	4	UNC5CL	6	41002798	Missense_Mutation	SNP	T	TCGA-59-2351-01A-01W-0799-08		41002798	130112269	29	22516											
TREM2	54209	broad.mit.edu	37	6	41126710	41126710	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr6:41126710G>A	ENST00000373113.3	-	4	670	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	TREM2_ENST00000338469.3_Intron|TREM2_ENST00000373122.4_Missense_Mutation_p.P206L	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	193					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.L193F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGCCCAGAGGGCGCTGGCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	6											60	64	62					6																	41126710		2203	4300	6503	41234688	SO:0001583	missense	54209			AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"Immunoglobulin superfamily / V-set domain containing"	17761	protein-coding gene	gene with protein product		605086	"triggering receptor expressed on myeloid cells 2a"			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.577C>T	6.37:g.41126710G>A	ENSP00000362205:p.Leu193Phe		41234688	Q8N5H8|Q8WYN6	Missense_Mutation	SNP	ENST00000373113.3	37	CCDS4852.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873876	0.33069	.	.	ENSG00000095970	ENST00000373113	T	0.58940	0.3	4.92	4.04	0.47022	.	0.133205	0.34725	N	0.003724	T	0.38108	0.1028	L	0.59436	1.845	0.80722	D	1	B	0.22080	0.064	B	0.20767	0.031	T	0.48614	-0.9020	10	0.66056	D	0.02	-19.6982	10.7408	0.46152	0.0:0.0:0.8097:0.1902	.	193	Q9NZC2	TREM2_HUMAN	F	193	ENSP00000362205:L193F	ENSP00000362205:L193F	L	-	1	0	TREM2	41234688	0.996000	0.38824	0.959000	0.39883	0.486000	0.33341	2.546000	0.45778	1.418000	0.47098	0.643000	0.83706	CTC		0.577	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		A	41126710	G	A	41126710	3	1	412	1	0	0	0	0	1	0	0	0	16471	1000	35	2	123	2	TREM2	6	41126710	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	123912	41126710	129988357	30	22517											
MDN1	23195	broad.mit.edu	37	6	90418252	90418252	+	Missense_Mutation	SNP	C	C	G	rs377084929		TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr6:90418252C>G	ENST00000369393.3	-	51	7976	c.7861G>C	c.(7861-7863)Gac>Cac	p.D2621H	MDN1_ENST00000428876.1_Missense_Mutation_p.D2621H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2621					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.D2621H(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGAGCTGGTCAGGCTGGTCC	0.473																																																1	Substitution - Missense(1)	ovary(1)	6											164	164	164					6																	90418252		2203	4300	6503	90474973	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7861G>C	6.37:g.90418252C>G	ENSP00000358400:p.Asp2621His		90474973	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017216	0.35606	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03580	3.88;3.88	5.11	2.23	0.28157	.	0.915974	0.09485	N	0.795864	T	0.00906	0.0030	N	0.14661	0.345	0.28126	N	0.930386	P	0.45283	0.855	B	0.38500	0.275	T	0.50583	-0.8811	10	0.62326	D	0.03	.	7.4566	0.27270	0.0:0.7184:0.1352:0.1464	.	2621	Q9NU22	MDN1_HUMAN	H	2621	ENSP00000358400:D2621H;ENSP00000413970:D2621H	ENSP00000358400:D2621H	D	-	1	0	MDN1	90474973	0.950000	0.32346	0.248000	0.24265	0.622000	0.37654	0.844000	0.27654	0.228000	0.21019	0.655000	0.94253	GAC		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			G	90418252	C	G	90418252	3	3	412	1	0	0	0	0	1	0	0	0	9415	826	29	3	9137	3	MDN1	6	90418252	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	49291542	90418252	80696815	31	22518											
REV3L	5980	broad.mit.edu	37	6	111737566	111737566	+	Missense_Mutation	SNP	G	G	C	rs533806331		TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr6:111737566G>C	ENST00000358835.3	-	3	703	c.249C>G	c.(247-249)atC>atG	p.I83M	REV3L_ENST00000368802.3_Missense_Mutation_p.I83M|REV3L_ENST00000435970.1_Missense_Mutation_p.I5M|REV3L_ENST00000368805.1_Missense_Mutation_p.I83M			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	83					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.I5M(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGCTCTGTCGATACTGAATG	0.403								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	ovary(1)	6											105	92	96					6																	111737566		2203	4300	6503	111844259	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.249C>G	6.37:g.111737566G>C	ENSP00000351697:p.Ile83Met		111844259	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675469	0.67928	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02787	4.67;4.67;4.67;4.16	5.31	3.42	0.39159	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.046817	0.85682	D	0.000000	T	0.08133	0.0203	M	0.89904	3.07	0.34424	D	0.697822	D	0.89917	1.0	D	0.97110	1.0	T	0.01578	-1.1320	10	0.66056	D	0.02	-3.2284	2.312	0.04188	0.2425:0.0:0.4871:0.2704	.	83	O60673	DPOLZ_HUMAN	M	83;83;83;5	ENSP00000357792:I83M;ENSP00000357795:I83M;ENSP00000351697:I83M;ENSP00000402003:I5M	ENSP00000351697:I83M	I	-	3	3	REV3L	111844259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.430000	0.52807	2.636000	0.89361	0.655000	0.94253	ATC		0.403	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		C	111737566	G	C	111737566	3	2	412	1	0	0	0	0	1	0	0	0	13243	1048	37	3	9267	3	REV3L	6	111737566	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	21319314	111737566	59377501	32	22519											
FBXL18	80028	broad.mit.edu	37	7	5540703	5540703	+	Silent	SNP	C	C	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr7:5540703C>T	ENST00000382368.3	-	3	1320	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	FBXL18_ENST00000453700.3_Silent_p.E399E	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	399								p.E399E(1)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGCCCAGGCCCTCCGAGCTGT	0.711																																																1	Substitution - coding silent(1)	ovary(1)	7											16	22	20					7																	5540703		2186	4282	6468	5507229	SO:0001819	synonymous_variant	80028			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1197G>A	7.37:g.5540703C>T			5507229	Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	3.329	-0.137064	0.06711	.	.	ENSG00000155034	ENST00000458142	.	.	.	5.25	1.06	0.20224	.	.	.	.	.	T	0.54013	0.1832	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43572	-0.9383	4	.	.	.	.	7.0381	0.25004	0.0:0.4765:0.3184:0.2051	.	.	.	.	K	283	.	.	R	-	2	0	FBXL18	5507229	0.959000	0.32827	0.983000	0.44433	0.749000	0.42624	0.091000	0.15046	0.220000	0.20860	-0.237000	0.12165	AGG		0.711	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		T	5540703	C	T	5540703	2	4	412	1	0	0	0	0	0	0	0	1	5714	680	24	2		2	FBXL18	7	5540703	Silent	SNP	C	TCGA-59-2351-01A-01W-0799-08		5540703	153597960	33	22520											
GRB10	2887	broad.mit.edu	37	7	50742219	50742219	+	Silent	SNP	A	A	G	rs200846366	byFrequency	TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr7:50742219A>G	ENST00000401949.1	-	6	745	c.276T>C	c.(274-276)gcT>gcC	p.A92A	GRB10_ENST00000398810.2_Silent_p.A34A|GRB10_ENST00000402497.1_Silent_p.A34A|GRB10_ENST00000335866.3_Silent_p.A34A|GRB10_ENST00000357271.5_Silent_p.A92A|GRB10_ENST00000402578.1_Silent_p.A34A|GRB10_ENST00000403097.1_Silent_p.A86A|GRB10_ENST00000439599.1_Silent_p.A86A|GRB10_ENST00000407526.1_Silent_p.A34A|GRB10_ENST00000398812.2_Silent_p.A92A|GRB10_ENST00000406641.1_Silent_p.A34A			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	92					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.A92A(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GAGGGCCTGAAGCCCGAGGCT	0.657									Russell-Silver syndrome				A|||	4	0.000798722	0	0.0058	5008	,	,		18184	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	7											40	47	45					7																	50742219		2066	4211	6277	50709713	SO:0001819	synonymous_variant	2887	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.276T>C	7.37:g.50742219A>G			50709713	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	CCDS43582.1																																																																																				0.657	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			G	50742219	A	G	50742219	2	3	412	1	0	0	0	0	0	0	0	1	6756	59	3	4		4	GRB10	7	50742219	Silent	SNP	A	TCGA-59-2351-01A-01W-0799-08	45201516	50742219	108396444	34	22521											
AZGP1	563	broad.mit.edu	37	7	99565930	99565930	+	Missense_Mutation	SNP	C	C	G	rs145427176		TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr7:99565930C>G	ENST00000292401.4	-	3	597	c.461G>C	c.(460-462)tGg>tCg	p.W154S	AZGP1_ENST00000411734.1_Missense_Mutation_p.W151S|AZGP1_ENST00000483612.1_5'Flank	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	154					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)	p.W154S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAAGGGGACCCAGGCTGGGAT	0.507																																																1	Substitution - Missense(1)	ovary(1)	7											131	139	136					7																	99565930		2203	4300	6503	99403866	SO:0001583	missense	563			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.461G>C	7.37:g.99565930C>G	ENSP00000292401:p.Trp154Ser		99403866	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412941	0.25465	.	.	ENSG00000160862	ENST00000292401;ENST00000411734	T;T	0.01215	5.16;5.16	2.76	2.76	0.32466	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.30538	U	0.009404	T	0.10208	0.0250	H	0.98048	4.135	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.00081	-1.2107	10	0.87932	D	0	.	6.2038	0.20591	0.0:0.8439:0.0:0.1561	.	154	P25311	ZA2G_HUMAN	S	154;151	ENSP00000292401:W154S;ENSP00000396093:W151S	ENSP00000292401:W154S	W	-	2	0	AZGP1	99403866	1.000000	0.71417	0.764000	0.31436	0.078000	0.17371	2.671000	0.46842	1.464000	0.47987	0.313000	0.20887	TGG		0.507	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		G	99565930	C	G	99565930	3	3	412	1	0	0	0	0	1	0	0	0	1239	595	21	3	443	3	AZGP1	7	99565930	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	48823711	99565930	59572733	35	22522											
TMEM209	84928	broad.mit.edu	37	7	129832614	129832614	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr7:129832614C>T	ENST00000397622.2	-	6	745	c.623G>A	c.(622-624)gGa>gAa	p.G208E	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.G207E|TMEM209_ENST00000462753.1_Missense_Mutation_p.G207E|TMEM209_ENST00000473456.1_Missense_Mutation_p.G208E	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	208	Ser-rich.					integral component of membrane (GO:0016021)		p.G207E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CTCCACTGGTCCAACAGTGGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	7											94	95	95					7																	129832614		1892	4114	6006	129619850	SO:0001583	missense	84928				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.623G>A	7.37:g.129832614C>T	ENSP00000380747:p.Gly208Glu		129619850	A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659068	0.67586	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49409	-0.8943	10	0.42905	T	0.14	-18.6113	19.1047	0.93290	0.0:1.0:0.0:0.0	.	208;208	Q96SK2-3;Q96SK2	.;TM209_HUMAN	E	208;207;208;207	ENSP00000380747:G208E;ENSP00000419697:G207E;ENSP00000417258:G208E;ENSP00000338388:G207E	ENSP00000338388:G207E	G	-	2	0	TMEM209	129619850	1.000000	0.71417	0.921000	0.36526	0.170000	0.22686	6.993000	0.76245	2.835000	0.97688	0.591000	0.81541	GGA		0.428	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		T	129832614	C	T	129832614	3	4	412	1	0	0	0	0	1	0	0	0	16134	855	30	2	1102	2	TMEM209	7	129832614	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	30266684	129832614	29306049	36	22523											
ATAD2	29028	broad.mit.edu	37	8	124349876	124349876	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr8:124349876C>G	ENST00000287394.5	-	21	3147	c.3040G>C	c.(3040-3042)Gac>Cac	p.D1014H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D332H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1014	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1014H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCATCAGGGTCAACAGGCTTA	0.363																																																1	Substitution - Missense(1)	ovary(1)	8											130	119	123					8																	124349876		2203	4300	6503	124419057	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3040G>C	8.37:g.124349876C>G	ENSP00000287394:p.Asp1014His		124419057	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638400	0.87760	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.25912	1.77;1.77	5.58	5.58	0.84498	Bromodomain (6);	0.089605	0.85682	D	0.000000	T	0.68641	0.3023	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.79011	-0.1977	10	0.48119	T	0.1	-17.5357	19.9414	0.97163	0.0:1.0:0.0:0.0	.	1014	Q6PL18	ATAD2_HUMAN	H	1014;332	ENSP00000287394:D1014H;ENSP00000429213:D332H	ENSP00000287394:D1014H	D	-	1	0	ATAD2	124419057	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.711000	0.84669	2.779000	0.95612	0.650000	0.86243	GAC		0.363	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		G	124349876	C	G	124349876	3	3	412	1	0	0	0	0	1	0	0	0	1071	826	29	3	1164	3	ATAD2	8	124349876	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08		124349876	22014146	37	22524											
DNA2	1763	broad.mit.edu	37	10	70225458	70225458	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr10:70225458G>C	ENST00000358410.3	-	4	603	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	DNA2_ENST00000399179.2_Missense_Mutation_p.Q185E|DNA2_ENST00000399180.2_Missense_Mutation_p.Q271E	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	185	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.Q185E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGAATTGTTTGAAAAGCAAGT	0.333																																																1	Substitution - Missense(1)	ovary(1)	10											59	56	57					10																	70225458		1802	4074	5876	69895464	SO:0001583	missense	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.553C>G	10.37:g.70225458G>C	ENSP00000351185:p.Gln185Glu		69895464	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.	.	.	.	.	.	.	.	.	.	G	8.007	0.756578	0.15846	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93076	-2.67;-3.16;-2.66	5.8	3.91	0.45181	DNA replication factor Dna2 (1);	0.551044	0.19995	N	0.101462	D	0.83004	0.5160	N	0.13098	0.295	0.21527	N	0.999654	B;B	0.22746	0.041;0.074	B;B	0.23150	0.007;0.044	T	0.66677	-0.5863	10	0.02654	T	1	.	8.6156	0.33829	0.069:0.0:0.5399:0.3911	.	185;185	F8VR31;P51530	.;DNA2L_HUMAN	E	185;271;185;185	ENSP00000382133:Q271E;ENSP00000382132:Q185E;ENSP00000351185:Q185E	ENSP00000351185:Q185E	Q	-	1	0	DNA2	69895464	0.930000	0.31532	1.000000	0.80357	0.992000	0.81027	1.385000	0.34408	0.755000	0.32990	0.585000	0.79938	CAA		0.333	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			C	70225458	G	C	70225458	3	2	412	1	0	0	0	0	1	0	0	0	4596	1299	45	3	2701	3	DNA2	10	70225458	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08		70225458	65309289	38	22525											
CBARA1	10367	broad.mit.edu	37	10	74135575	74135575	+	Silent	SNP	C	C	G	rs545259526		TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr10:74135575C>G	ENST00000361114.5	-	11	1332	c.1236G>C	c.(1234-1236)gtG>gtC	p.V412V	MICU1_ENST00000418483.2_Silent_p.V214V|MICU1_ENST00000398761.4_Silent_p.V414V|MICU1_ENST00000398763.4_Silent_p.V214V|MICU1_ENST00000401998.3_Silent_p.V412V	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	412	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.V414V(1)									CCACATCACACACGTGGTCTG	0.532													C|||	1	0.000199681	8e-04	0	5008	,	,		18160	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	10											75	76	76					10																	74135575		2092	4225	6317	73805581	SO:0001819	synonymous_variant	10367			Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1236G>C	10.37:g.74135575C>G			73805581	A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	ENST00000361114.5	37	CCDS55715.1																																																																																				0.532	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		G	74135575	C	G	74135575	2	3	412	1	0	0	0	0	0	0	0	1	2696	465	17	3		3	CBARA1	10	74135575	Silent	SNP	C	TCGA-59-2351-01A-01W-0799-08	3910117	74135575	61399172	39	22526											
LRIT2	340745	broad.mit.edu	37	10	85985240	85985240	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr10:85985240C>T	ENST00000372113.4	-	1	42	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	LRIT2_ENST00000538192.1_Missense_Mutation_p.V13I	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	13						integral component of membrane (GO:0016021)		p.V13I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCCAGAAAGACCAGAACTAAC	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											75	73	74					10																	85985240		2203	4300	6503	85975220	SO:0001583	missense	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.37G>A	10.37:g.85985240C>T	ENSP00000361185:p.Val13Ile		85975220	B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	2.715	-0.267931	0.05754	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.61158	0.53;0.13	5.87	1.94	0.25998	.	0.471174	0.17748	N	0.163338	T	0.44561	0.1299	M	0.62723	1.935	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.30149	-0.9988	10	0.18710	T	0.47	.	1.6407	0.02752	0.1319:0.4332:0.1286:0.3062	.	13;13	B7ZME6;A6NDA9	.;LRIT2_HUMAN	I	13	ENSP00000361185:V13I;ENSP00000438264:V13I	ENSP00000361185:V13I	V	-	1	0	LRIT2	85975220	0.000000	0.05858	0.008000	0.14137	0.024000	0.10985	-0.048000	0.11944	0.101000	0.17610	-0.794000	0.03295	GTC		0.468	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		T	85985240	C	T	85985240	3	4	412	1	0	0	0	0	1	0	0	0	8948	507	18	2	1627	2	LRIT2	10	85985240	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	11849665	85985240	49549507	40	22527											
SEC31B	25956	broad.mit.edu	37	10	102255224	102255224	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr10:102255224G>C	ENST00000370345.3	-	19	2487	c.2390C>G	c.(2389-2391)cCc>cGc	p.P797R	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	797					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.P797R(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCGGGGGAAGGGGAAAGGGGG	0.498																																																1	Substitution - Missense(1)	ovary(1)	10											67	62	64					10																	102255224		2203	4300	6503	102245214	SO:0001583	missense	25956			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2390C>G	10.37:g.102255224G>C	ENSP00000359370:p.Pro797Arg		102245214	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038415	0.35989	.	.	ENSG00000075826	ENST00000370345	T	0.57273	0.41	5.82	5.82	0.92795	.	0.277052	0.41500	D	0.000871	T	0.72479	0.3465	M	0.74881	2.28	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.71184	0.972;0.938	T	0.73100	-0.4089	10	0.54805	T	0.06	-15.8493	17.2565	0.87059	0.0:0.0:1.0:0.0	.	796;797	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	R	797	ENSP00000359370:P797R	ENSP00000359370:P797R	P	-	2	0	SEC31B	102245214	1.000000	0.71417	0.569000	0.28460	0.079000	0.17450	5.241000	0.65384	2.757000	0.94681	0.561000	0.74099	CCC		0.498	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		C	102255224	G	C	102255224	3	2	412	1	0	0	0	0	1	0	0	0	14002	1232	43	3	1181	3	SEC31B	10	102255224	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	16269984	102255224	33279523	41	22528											
DEPDC7	91614	broad.mit.edu	37	11	33054966	33054966	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr11:33054966C>A	ENST00000241051.3	+	9	1593	c.1501C>A	c.(1501-1503)Cac>Aac	p.H501N	DEPDC7_ENST00000311388.3_Missense_Mutation_p.H492N	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	501					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)		p.H492N(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CTATAAGTGTCACCCAGACAT	0.299																																																1	Substitution - Missense(1)	ovary(1)	11											82	81	81					11																	33054966		1796	4056	5852	33011542	SO:0001583	missense	91614				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.1501C>A	11.37:g.33054966C>A	ENSP00000241051:p.His501Asn		33011542	G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688364	0.29962	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	D;D	0.83250	-1.7;-1.7	5.25	5.25	0.73442	.	0.047246	0.85682	D	0.000000	T	0.78477	0.4289	L	0.56124	1.755	0.46149	D	0.998896	B;B	0.24043	0.096;0.002	B;B	0.27608	0.081;0.004	T	0.75340	-0.3352	10	0.49607	T	0.09	-4.3266	8.776	0.34762	0.2157:0.7083:0.0:0.076	.	492;501	G5E941;Q96QD5	.;DEPD7_HUMAN	N	501;492	ENSP00000241051:H501N;ENSP00000308971:H492N	ENSP00000241051:H501N	H	+	1	0	DEPDC7	33011542	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.732000	0.62029	2.605000	0.88082	0.557000	0.71058	CAC		0.299	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		A	33054966	C	A	33054966	3	1	412	1	0	0	0	0	1	0	0	0	4444	826	29	3	1585	3	DEPDC7	11	33054966	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08		33054966	101951550	42	22529											
GANAB	23193	broad.mit.edu	37	11	62398582	62398582	+	Nonsense_Mutation	SNP	G	G	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr11:62398582G>C	ENST00000356638.3	-	10	1086	c.1070C>G	c.(1069-1071)tCa>tGa	p.S357*	GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_Nonsense_Mutation_p.S260*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.S265*|GANAB_ENST00000346178.4_Nonsense_Mutation_p.S379*	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	357					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.S357*(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GCCAGTCTCTGACATCCAGCG	0.537																																					Melanoma(23;1005 1074 15747 18937)											1	Substitution - Nonsense(1)	ovary(1)	11											281	263	269					11																	62398582		2202	4299	6501	62155158	SO:0001587	stop_gained	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1070C>G	11.37:g.62398582G>C	ENSP00000349053:p.Ser357*		62155158	A6NC20|Q8WTS9|Q9P0X0	Nonsense_Mutation	SNP	ENST00000356638.3	37	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	37	6.527486	0.97637	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.0538	16.4234	0.83790	0.0:0.0:1.0:0.0	.	.	.	.	X	379;357;265;260	.	ENSP00000340466:S379X	S	-	2	0	GANAB	62155158	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.541000	0.98083	2.750000	0.94351	0.563000	0.77884	TCA		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		C	62398582	G	C	62398582	4	2	412	1	0	0	0	0	0	1	0	0	6233	1294	45	3	1824	3	GANAB	11	62398582	Nonsense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	29343616	62398582	72607934	43	22530											
GALNT8	26290	broad.mit.edu	37	12	4853717	4853717	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr12:4853717G>C	ENST00000252318.2	+	4	1048	c.711G>C	c.(709-711)aaG>aaC	p.K237N	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	237	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K237N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGAAGATTAAGCTTTACAACC	0.423																																					Colon(108;631 1558 7270 20097 39846)											1	Substitution - Missense(1)	ovary(1)	12											83	75	78					12																	4853717		2203	4300	6503	4723978	SO:0001583	missense	26290			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.711G>C	12.37:g.4853717G>C	ENSP00000252318:p.Lys237Asn		4723978	B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451577	0.43531	.	.	ENSG00000130035	ENST00000252318	T	0.60672	0.17	4.5	-0.604	0.11626	Glycosyl transferase, family 2 (1);	1.396440	0.04518	N	0.384047	T	0.60444	0.2269	M	0.67953	2.075	0.09310	N	1	P	0.48998	0.918	P	0.46685	0.524	T	0.53585	-0.8418	10	0.49607	T	0.09	.	7.8153	0.29256	0.4796:0.0:0.5204:0.0	.	237	Q9NY28	GALT8_HUMAN	N	237	ENSP00000252318:K237N	ENSP00000252318:K237N	K	+	3	2	GALNT8	4723978	0.000000	0.05858	0.001000	0.08648	0.937000	0.57800	-0.409000	0.07160	-0.055000	0.13244	-0.439000	0.05793	AAG		0.423	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		C	4853717	G	C	4853717	3	2	412	1	0	0	0	0	1	0	0	0	6219	962	34	3	725	3	GALNT8	12	4853717	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08		4853717	128998178	44	22531											
TAS2R8	50836	broad.mit.edu	37	12	10958714	10958714	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr12:10958714T>C	ENST00000240615.2	-	1	1178	c.866A>G	c.(865-867)aAt>aGt	p.N289S		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	289					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.N289S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTTTATTATTTAAAACAAT	0.333																																																1	Substitution - Missense(1)	ovary(1)	12											28	30	29					12																	10958714		2200	4292	6492	10849981	SO:0001583	missense	50836			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.866A>G	12.37:g.10958714T>C	ENSP00000240615:p.Asn289Ser		10849981	Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.288821	0.23478	.	.	ENSG00000121314	ENST00000240615	T	0.39997	1.05	4.86	2.42	0.29668	.	0.084393	0.43919	U	0.000505	T	0.55226	0.1907	M	0.71871	2.18	0.09310	N	1	D	0.71674	0.998	D	0.67382	0.951	T	0.44574	-0.9319	10	0.59425	D	0.04	.	5.947	0.19223	0.0:0.0895:0.1663:0.7441	.	289	Q9NYW2	TA2R8_HUMAN	S	289	ENSP00000240615:N289S	ENSP00000240615:N289S	N	-	2	0	TAS2R8	10849981	0.097000	0.21791	0.010000	0.14722	0.006000	0.05464	0.581000	0.23819	0.327000	0.23409	-0.256000	0.11100	AAT		0.333	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			C	10958714	T	C	10958714	3	2	412	1	0	0	0	0	1	0	0	0	15587	1493	52	4	66	4	TAS2R8	12	10958714	Missense_Mutation	SNP	T	TCGA-59-2351-01A-01W-0799-08	6104997	10958714	122893181	45	22532											
PIK3C2G	5288	broad.mit.edu	37	12	18499747	18499747	+	Silent	SNP	C	C	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr12:18499747C>T	ENST00000266497.5	+	10	1640	c.1602C>T	c.(1600-1602)aaC>aaT	p.N534N	PIK3C2G_ENST00000538779.1_Silent_p.N534N|PIK3C2G_ENST00000535651.1_Silent_p.N534N|PIK3C2G_ENST00000433979.1_Silent_p.N534N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	534	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.N534N(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCACACAACATTCCAGAAA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	12											58	55	56					12																	18499747		1938	4133	6071	18391014	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1602C>T	12.37:g.18499747C>T			18391014	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																				0.418	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18499747	C	T	18499747	2	4	412	1	0	0	0	0	0	0	0	1	11911	477	17	2		2	PIK3C2G	12	18499747	Silent	SNP	C	TCGA-59-2351-01A-01W-0799-08	7541033	18499747	115352148	46	22533											
MLL2	8085	broad.mit.edu	37	12	49432061	49432061	+	Silent	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr12:49432061G>A	ENST00000301067.7	-	34	9077	c.9078C>T	c.(9076-9078)ggC>ggT	p.G3026G	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3026					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G2756G(1)									TTTCTAAGGTGCCAAGTTCAT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	12											104	106	105					12																	49432061		2067	4206	6273	47718328	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9078C>T	12.37:g.49432061G>A			47718328	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.522	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49432061	G	A	49432061	2	1	412	1	0	0	0	0	0	0	0	1	9621	1306	46	2		2	MLL2	12	49432061	Silent	SNP	G	TCGA-59-2351-01A-01W-0799-08	30932314	49432061	84419834	47	22534											
KRT6B	3854	broad.mit.edu	37	12	52843335	52843335	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr12:52843335C>G	ENST00000252252.3	-	5	1042	c.995G>C	c.(994-996)aGc>aCc	p.S332T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	332	Linker 12.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.S332T(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AGCGATGATGCTGTCCAGGTC	0.557																																																1	Substitution - Missense(1)	ovary(1)	12											184	163	170					12																	52843335		2203	4298	6501	51129602	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.995G>C	12.37:g.52843335C>G	ENSP00000252252:p.Ser332Thr		51129602	P48669	Missense_Mutation	SNP	ENST00000252252.3	37	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383254	0.61845	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.75477	-0.94	3.05	3.05	0.35203	Filament (1);	0.000000	0.64402	D	0.000001	D	0.88366	0.6417	M	0.92970	3.365	0.36243	D	0.853416	D	0.76494	0.999	D	0.74348	0.983	D	0.93607	0.6935	10	0.72032	D	0.01	.	15.3938	0.74774	0.0:1.0:0.0:0.0	.	332	P04259	K2C6B_HUMAN	T	332;292	ENSP00000252252:S332T	ENSP00000252252:S332T	S	-	2	0	KRT6B	51129602	0.992000	0.36948	1.000000	0.80357	0.766000	0.43426	2.613000	0.46351	2.042000	0.60477	0.298000	0.19748	AGC		0.557	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		G	52843335	C	G	52843335	3	3	412	1	0	0	0	0	1	0	0	0	8481	797	28	3	719	3	KRT6B	12	52843335	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	3411274	52843335	81008560	48	22535											
TIMELESS	8914	broad.mit.edu	37	12	56817375	56817375	+	Silent	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr12:56817375G>A	ENST00000553532.1	-	17	2233	c.2083C>T	c.(2083-2085)Ctg>Ttg	p.L695L	TIMELESS_ENST00000229201.4_Silent_p.L694L|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.L695L(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CACCGTTTCAGGTAGTCCAGA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	12											79	69	73					12																	56817375		2203	4300	6503	55103642	SO:0001819	synonymous_variant	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2083C>T	12.37:g.56817375G>A			55103642		Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																				0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		A	56817375	G	A	56817375	2	1	412	1	0	0	0	0	0	0	0	1	15904	991	35	2		2	TIMELESS	12	56817375	Silent	SNP	G	TCGA-59-2351-01A-01W-0799-08	3974040	56817375	77034520	49	22536											
PPP1R12A	4659	broad.mit.edu	37	12	80199435	80199435	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr12:80199435G>C	ENST00000450142.2	-	14	2203	c.1937C>G	c.(1936-1938)aCa>aGa	p.T646R	PPP1R12A_ENST00000550107.1_Missense_Mutation_p.T590R|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T646R|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T559R|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T646R	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	646	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.T646R(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AGTCAGGGTTGTGGTAGAAGC	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											112	113	112					12																	80199435		2105	4229	6334	78723566	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1937C>G	12.37:g.80199435G>C	ENSP00000389168:p.Thr646Arg		78723566	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.51|18.51	3.640117|3.640117	0.67244|0.67244	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000553081|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107	.|T;T;T;T;T	.|0.40476	.|1.03;1.03;1.05;1.05;1.04	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.097634	.|0.64402	.|D	.|0.000001	T|T	0.63153|0.63153	0.2487|0.2487	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D;P	.|0.69078	.|0.739;0.997;0.622	.|B;D;B	.|0.75484	.|0.354;0.986;0.193	T|T	0.57906|0.57906	-0.7730|-0.7730	5|10	.|0.33141	.|T	.|0.24	.|.	19.4766|19.4766	0.94991|0.94991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|646;590;646	.|O14974-2;O14974-3;O14974	.|.;.;MYPT1_HUMAN	E|R	238|646;646;646;590;646;646;559;590	.|ENSP00000261207:T646R;ENSP00000389168:T646R;ENSP00000416769:T646R;ENSP00000449514:T559R;ENSP00000446855:T590R	.|ENSP00000261207:T646R	Q|T	-|-	1|2	0|0	PPP1R12A|PPP1R12A	78723566|78723566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.575000|7.575000	0.82447|0.82447	2.585000|2.585000	0.87301|0.87301	0.591000|0.591000	0.81541|0.81541	CAA|ACA		0.478	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		C	80199435	G	C	80199435	3	2	412	1	0	0	0	0	1	0	0	0	12357	1377	48	3	1203	3	PPP1R12A	12	80199435	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	23382060	80199435	53652460	50	22537											
POC1B	282809	broad.mit.edu	37	12	89864231	89864231	+	Silent	SNP	C	C	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr12:89864231C>T	ENST00000313546.3	-	7	845	c.717G>A	c.(715-717)tcG>tcA	p.S239S	POC1B_ENST00000393179.4_Silent_p.S109S|POC1B_ENST00000541909.1_Silent_p.S109S|POC1B_ENST00000549035.1_Silent_p.S197S|POC1B_ENST00000378528.2_Intron|POC1B_ENST00000549504.1_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	239					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.S239S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GATAGTTACCCGAAGGATGGA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	12											138	130	132					12																	89864231		2203	4300	6503	88388362	SO:0001819	synonymous_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.717G>A	12.37:g.89864231C>T			88388362	G3V1X0	Silent	SNP	ENST00000313546.3	37	CCDS31869.1																																																																																				0.378	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		T	89864231	C	T	89864231	2	4	412	1	0	0	0	0	0	0	0	1	12176	639	23	1		1	POC1B	12	89864231	Silent	SNP	C	TCGA-59-2351-01A-01W-0799-08	9664796	89864231	43987664	51	22538											
FAM123A	219287	broad.mit.edu	37	13	25743819	25743819	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr13:25743819G>A	ENST00000515384.1	-	1	2606	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	AMER2_ENST00000357816.2_Missense_Mutation_p.R528C|AMER2_ENST00000381853.3_Missense_Mutation_p.R528C			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	647					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R528C(1)									CTGACTCTGCGGACCAGCACT	0.582																																																1	Substitution - Missense(1)	ovary(1)	13											72	74	74					13																	25743819		2203	4300	6503	24641819	SO:0001583	missense	219287			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1939C>T	13.37:g.25743819G>A	ENSP00000426528:p.Arg647Cys		24641819	Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304684	0.81247	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.36157	1.28;1.28;1.27	5.97	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.53129	-0.8482	10	0.87932	D	0	-11.8384	15.7693	0.78152	0.0:0.0:0.8628:0.1372	.	647;528	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	C	528;528;647	ENSP00000350469:R528C;ENSP00000371277:R528C;ENSP00000426528:R647C	ENSP00000350469:R528C	R	-	1	0	FAM123A	24641819	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.149000	0.77396	1.520000	0.48965	0.655000	0.94253	CGC		0.582	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		A	25743819	G	A	25743819	3	1	412	1	0	0	0	0	1	0	0	0	5422	1116	39	1	80	1	FAM123A	13	25743819	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08		25743819	89426059	52	22539											
RPGRIP1	57096	broad.mit.edu	37	14	21793543	21793543	+	Splice_Site	SNP	G	G	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr14:21793543G>T	ENST00000400017.2	+	15	2367		c.e15+1		RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_Splice_Site|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000206660.6_Splice_Site|RPGRIP1_ENST00000557771.1_Splice_Site|RPGRIP1_ENST00000307974.4_Splice_Site	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1						eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.?(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGAAGAGGAGGTGAGAAAAAA	0.512																																																1	Unknown(1)	ovary(1)	14											24	25	25					14																	21793543		1906	4118	6024	20863383	SO:0001630	splice_region_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2367+1G>T	14.37:g.21793543G>T			20863383	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Splice_Site	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693426	0.48202	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3354	0.83059	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPGRIP1	20863383	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.339000	0.65953	2.725000	0.93324	0.655000	0.94253	.		0.512	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	Intron	T	21793543	G	T	21793543	5	4	412	1	0	0	0	0	0	0	1	0	13552	1275	44	3	2426	3	RPGRIP1	14	21793543	Splice_Site	SNP	G	TCGA-59-2351-01A-01W-0799-08		21793543	85555997	53	22540											
CDAN1	146059	broad.mit.edu	37	15	43017755	43017755	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr15:43017755G>A	ENST00000356231.3	-	26	3405	c.3382C>T	c.(3382-3384)Ccg>Tcg	p.P1128S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1128					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1128S(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCGGAACCGGCCCCTGAAAG	0.597																																																1	Substitution - Missense(1)	ovary(1)	15											48	50	49					15																	43017755		2203	4299	6502	40805047	SO:0001583	missense	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.3382C>T	15.37:g.43017755G>A	ENSP00000348564:p.Pro1128Ser		40805047	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530526	0.45073	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86030	-2.06	5.72	5.72	0.89469	.	0.311094	0.40818	N	0.001002	D	0.87553	0.6206	L	0.33485	1.01	0.38922	D	0.957767	P;D	0.89917	0.607;1.0	B;D	0.87578	0.12;0.998	D	0.86499	0.1802	10	0.33940	T	0.23	-2.1211	13.5953	0.61987	0.0:0.0:0.8445:0.1555	.	1128;1126	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	S	1128;1126	ENSP00000348564:P1128S	ENSP00000267892:P1126S	P	-	1	0	CDAN1	40805047	1.000000	0.71417	0.986000	0.45419	0.760000	0.43138	3.512000	0.53407	2.699000	0.92147	0.563000	0.77884	CCG		0.597	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		A	43017755	G	A	43017755	3	1	412	1	0	0	0	0	1	0	0	0	3054	1203	42	2	313	2	CDAN1	15	43017755	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08		43017755	59513637	54	22541											
DMXL2	23312	broad.mit.edu	37	15	51828931	51828931	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr15:51828931C>G	ENST00000251076.5	-	12	2033	c.1746G>C	c.(1744-1746)gaG>gaC	p.E582D	DMXL2_ENST00000449909.3_Missense_Mutation_p.E582D|DMXL2_ENST00000543779.2_Missense_Mutation_p.E582D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	582						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.E582D(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAGACATCCCCTCCTGGTGTA	0.443																																																1	Substitution - Missense(1)	ovary(1)	15											138	113	122					15																	51828931		2195	4293	6488	49616223	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1746G>C	15.37:g.51828931C>G	ENSP00000251076:p.Glu582Asp		49616223	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.480301	0.01027	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.24151	2.02;2.02;1.87	5.42	-1.32	0.09201	.	0.681105	0.15437	N	0.262383	T	0.11707	0.0285	L	0.29908	0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30851	-0.9964	10	0.11182	T	0.66	.	2.2266	0.03986	0.2287:0.274:0.3626:0.1347	.	582;582;582	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	D	582	ENSP00000251076:E582D;ENSP00000441858:E582D;ENSP00000400855:E582D	ENSP00000251076:E582D	E	-	3	2	DMXL2	49616223	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.063000	0.11655	-0.270000	0.09285	-0.175000	0.13238	GAG		0.443	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51828931	C	G	51828931	3	3	412	1	0	0	0	0	1	0	0	0	4595	680	24	3	7495	3	DMXL2	15	51828931	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	8811176	51828931	50702461	55	22542											
SGK269	79834	broad.mit.edu	37	15	77472051	77472051	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr15:77472051C>T	ENST00000560626.2	-	4	2693	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	PEAK1_ENST00000558305.1_Missense_Mutation_p.E740K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E740K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	740					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E740K(2)									GCCACAGGCTCTTGAGTGGCT	0.507																																																2	Substitution - Missense(2)	ovary(2)	15											94	90	91					15																	77472051		1957	4165	6122	75259106	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2218G>A	15.37:g.77472051C>T	ENSP00000452796:p.Glu740Lys		75259106	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459024	0.63401	.	.	ENSG00000173517	ENST00000312493	T	0.70516	-0.49	5.89	5.89	0.94794	.	0.269388	0.16374	U	0.217216	T	0.62221	0.2410	L	0.29908	0.895	0.43076	D	0.994726	B	0.17852	0.024	B	0.15484	0.013	T	0.57063	-0.7875	10	0.51188	T	0.08	-12.7065	15.7106	0.77623	0.0:0.864:0.136:0.0	.	740	Q9H792	PEAK1_HUMAN	K	740	ENSP00000309230:E740K	ENSP00000309230:E740K	E	-	1	0	AC087465.1	75259106	1.000000	0.71417	0.693000	0.30195	0.777000	0.43975	7.161000	0.77505	2.793000	0.96121	0.655000	0.94253	GAG		0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			T	77472051	C	T	77472051	3	4	412	1	0	0	0	0	1	0	0	0	14214	922	32	2	3038	2	SGK269	15	77472051	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	25643120	77472051	25059341	56	22543											
IQGAP1	8826	broad.mit.edu	37	15	91029272	91029272	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr15:91029272A>G	ENST00000268182.5	+	31	4056	c.3932A>G	c.(3931-3933)gAt>gGt	p.D1311G	IQGAP1_ENST00000560738.1_Missense_Mutation_p.D739G	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1311	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.D1311G(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTCCTGTTGGATCACCAGGAT	0.507																																																1	Substitution - Missense(1)	ovary(1)	15											74	62	66					15																	91029272		2198	4298	6496	88830276	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3932A>G	15.37:g.91029272A>G	ENSP00000268182:p.Asp1311Gly		88830276	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.027434	0.93518	.	.	ENSG00000140575	ENST00000268182	T	0.49720	0.77	5.46	5.46	0.80206	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.47716	1.5	0.80722	D	1	P	0.49783	0.928	P	0.48738	0.588	T	0.52185	-0.8609	10	0.52906	T	0.07	-28.4834	14.6554	0.68828	1.0:0.0:0.0:0.0	.	1311	P46940	IQGA1_HUMAN	G	1311	ENSP00000268182:D1311G	ENSP00000268182:D1311G	D	+	2	0	IQGAP1	88830276	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.207000	0.95064	2.199000	0.70637	0.455000	0.32223	GAT		0.507	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		G	91029272	A	G	91029272	3	3	412	1	0	0	0	0	1	0	0	0	7814	333	12	4	4054	4	IQGAP1	15	91029272	Missense_Mutation	SNP	A	TCGA-59-2351-01A-01W-0799-08	13557221	91029272	11502120	57	22544											
ERN2	10595	broad.mit.edu	37	16	23713839	23713839	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr16:23713839G>T	ENST00000457008.2	-	10	991	c.953C>A	c.(952-954)gCc>gAc	p.A318D	ERN2_ENST00000256797.4_Missense_Mutation_p.A366D					endoplasmic reticulum to nucleus signaling 2									p.A318D(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ATCTGCGGGGGCCAGGGTCAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											121	127	125					16																	23713839		2197	4300	6497	23621340	SO:0001583	missense	10595			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.953C>A	16.37:g.23713839G>T	ENSP00000413812:p.Ala318Asp		23621340		Missense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.826817	0.90955	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.47869	0.83;0.83	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	M	0.61703	1.905	0.80722	D	1	P;D;D	0.89917	0.913;1.0;0.994	P;D;P	0.85130	0.536;0.997;0.891	T	0.56208	-0.8017	10	0.16420	T	0.52	.	17.8375	0.88704	0.0:0.0:1.0:0.0	.	318;318;318	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	D	366;318	ENSP00000256797:A366D;ENSP00000413812:A318D	ENSP00000256797:A366D	A	-	2	0	ERN2	23621340	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	8.556000	0.90697	2.821000	0.97095	0.555000	0.69702	GCC		0.587	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			T	23713839	G	T	23713839	3	4	412	1	0	0	0	0	1	0	0	0	5238	1203	42	3	1879	3	ERN2	16	23713839	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08		23713839	66640914	58	22545											
TP53	7157	broad.mit.edu	37	17	7578510	7578510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	-	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr17:7578510delG	ENST00000269305.4	-	5	609	c.420delC	c.(418-420)accfs	p.T140fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.T140fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.T140fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.T140fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.T140fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T140fs	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	140	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T140T(6)|p.A138_P142delAKTCP(4)|p.K139_T140delKT(3)|p.N131fs*27(2)|p.C141fs*8(2)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.K46_T47delKT(1)|p.A6_P10delAKTCP(1)|p.K7_T8delKT(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*29(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.K139fs*29(1)|p.T140I(1)|p.C141fs*34(1)|p.C141fs*30(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)	GCACAGGGCAGGTCTTGGCCA	0.562		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"	39	Deletion - In frame(13)|Whole gene deletion(8)|Substitution - coding silent(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	ovary(10)|NS(5)|central_nervous_system(4)|breast(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|testis(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|lung(1)|eye(1)|liver(1)	17											56	55	56					17																	7578510		2203	4300	6503	7519235	SO:0001589	frameshift_variant	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.420delC	17.37:g.7578510delG	ENSP00000269305:p.Thr140fs		7519235	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578510	G	-	7578510	7	5	412	1	0	1	0	1	0	0	0	0	16381	987	35	0	878	0	TP53	17	7578510	Frame_Shift_Del	DEL	G	TCGA-59-2351-01A-01W-0799-08		7578510	73616700	59	22546											
DNAH9	1770	broad.mit.edu	37	17	11872710	11872710	+	Missense_Mutation	SNP	C	C	T	rs9913494	byFrequency	TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr17:11872710C>T	ENST00000262442.4	+	69	13395	c.13327C>T	c.(13327-13329)Cgc>Tgc	p.R4443C	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.R4367C|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000608377.1_Missense_Mutation_p.R755C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4443			R -> C (in dbSNP:rs9913494).		cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R4443C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAGGACTGCCGCAGTGTCTA	0.517													C|||	8	0.00159744	0.0045	0.0029	5008	,	,		19202	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	17						C	CYS/ARG,CYS/ARG	24,4382	31.7+/-61.6	0,24,2179	106	90	95		13327,2263	3	0.3	17	dbSNP_119	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	DNAH9	NM_001372.3,NM_004662.2	180,180	0,26,6477	TT,TC,CC		0.0233,0.5447,0.1999	benign,benign	4443/4487,755/799	11872710	26,12980	2203	4300	6503	11813435	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13327C>T	17.37:g.11872710C>T	ENSP00000262442:p.Arg4443Cys		11813435	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.92	2.975128	0.53720	0.005447	2.33E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.09255	3.0;3.0;3.0	4.99	3.0	0.34707	Dynein heavy chain (1);	0.173431	0.48767	D	0.000163	T	0.27169	0.0666	M	0.92923	3.36	0.28704	N	0.903934	D	0.76494	0.999	D	0.66716	0.946	T	0.22906	-1.0203	10	0.72032	D	0.01	.	6.8399	0.23957	0.14:0.7126:0.0:0.1474	rs9913494;rs52836710;rs9913494	4443	Q9NYC9	DYH9_HUMAN	C	4443;4367;2949;755	ENSP00000262442:R4443C;ENSP00000414874:R4367C;ENSP00000379323:R755C	ENSP00000262442:R4443C	R	+	1	0	DNAH9	11813435	0.003000	0.15002	0.274000	0.24659	0.914000	0.54420	0.681000	0.25320	0.686000	0.31488	-0.444000	0.05651	CGC		0.517	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11872710	C	T	11872710	3	4	412	1	0	0	0	0	1	0	0	0	4608	652	23	1	13601	1	DNAH9	17	11872710	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	4294200	11872710	69322500	60	22547											
CDK12	51755	broad.mit.edu	37	17	37673769	37673769	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr17:37673769A>G	ENST00000447079.4	+	10	2956	c.2923A>G	c.(2923-2925)Aag>Gag	p.K975E	CDK12_ENST00000430627.2_Missense_Mutation_p.K975E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	975	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.K975E(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CATGAAACCGAAGAAGCAATA	0.458			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Missense(1)	ovary(1)	17											197	173	181					17																	37673769		2203	4300	6503	34927295	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2923A>G	17.37:g.37673769A>G	ENSP00000398880:p.Lys975Glu		34927295	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225626	0.79576	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.43294	0.95;0.95	5.19	5.19	0.71726	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	0.45606	D	0.000347	T	0.62245	0.2412	M	0.62016	1.91	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	T	0.65776	-0.6086	10	0.72032	D	0.01	-11.5287	15.3521	0.74396	1.0:0.0:0.0:0.0	.	974;975;975	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	E	975	ENSP00000407720:K975E;ENSP00000398880:K975E	ENSP00000407720:K975E	K	+	1	0	CDK12	34927295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.081000	0.62600	0.460000	0.39030	AAG		0.458	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		G	37673769	A	G	37673769	3	3	412	1	0	0	0	0	1	0	0	0	3128	247	9	4	2961	4	CDK12	17	37673769	Missense_Mutation	SNP	A	TCGA-59-2351-01A-01W-0799-08	25801059	37673769	43521441	61	22548											
SGCA	6442	broad.mit.edu	37	17	48247635	48247635	+	Silent	SNP	C	C	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr17:48247635C>A	ENST00000262018.3	+	7	915	c.879C>A	c.(877-879)acC>acA	p.T293T	SGCA_ENST00000344627.6_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	293					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.T293T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTCTGGTCACCCTCCTGGTGC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	17											124	106	112					17																	48247635		2203	4300	6503	45602634	SO:0001819	synonymous_variant	6442			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.879C>A	17.37:g.48247635C>A			45602634	A6NEB8|A8K3K7|Q13710|Q13712	Silent	SNP	ENST00000262018.3	37	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363522	0.24684	.	.	ENSG00000108823	ENST00000504073	.	.	.	5.8	0.215	0.15253	.	.	.	.	.	T	0.40498	0.1119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	-27.7417	1.0293	0.01534	0.1376:0.3013:0.2681:0.293	.	.	.	.	T	66	.	.	P	+	1	0	SGCA	45602634	0.012000	0.17670	0.999000	0.59377	0.983000	0.72400	-0.193000	0.09573	0.063000	0.16370	0.655000	0.94253	CCT		0.637	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		A	48247635	C	A	48247635	2	1	412	1	0	0	0	0	0	0	0	1	14202	610	22	3		3	SGCA	17	48247635	Silent	SNP	C	TCGA-59-2351-01A-01W-0799-08	10573866	48247635	32947575	62	22549											
MAP2K6	5608	broad.mit.edu	37	17	67517194	67517194	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr17:67517194T>G	ENST00000590474.1	+	7	775	c.488T>G	c.(487-489)gTa>gGa	p.V163G	MAP2K6_ENST00000589647.1_Missense_Mutation_p.V107G	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.V163G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TTGCAGATTGTAAAAGCATTA	0.343																																																1	Substitution - Missense(1)	ovary(1)	17											156	146	149					17																	67517194		2203	4300	6503	65028789	SO:0001583	missense	5608			U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.488T>G	17.37:g.67517194T>G	ENSP00000468348:p.Val163Gly		65028789		Missense_Mutation	SNP	ENST00000590474.1	37	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536721	0.85812	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.65	5.65	0.86999	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	0.75496	0.3857	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75059	-0.3451	8	.	.	.	-18.1181	15.0093	0.71539	0.0:0.0:0.0:1.0	.	163;163	P52564;A8K3Y2	MP2K6_HUMAN;.	G	163	.	.	V	+	2	0	MAP2K6	65028789	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.747000	0.85070	2.281000	0.76405	0.528000	0.53228	GTA		0.343	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		G	67517194	T	G	67517194	3	3	412	1	0	0	0	0	1	0	0	0	9241	1638	57	5	514	5	MAP2K6	17	67517194	Missense_Mutation	SNP	T	TCGA-59-2351-01A-01W-0799-08	19269559	67517194	13678016	63	22550											
FBN3	84467	broad.mit.edu	37	19	8145997	8145997	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr19:8145997T>C	ENST00000600128.1	-	59	7757	c.7343A>G	c.(7342-7344)gAc>gGc	p.D2448G	FBN3_ENST00000270509.2_Missense_Mutation_p.D2448G|FBN3_ENST00000601739.1_Missense_Mutation_p.D2448G			Q75N90	FBN3_HUMAN	fibrillin 3	2448	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D2448G(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTGCATTCGTCCAGGTCTGC	0.667																																																1	Substitution - Missense(1)	ovary(1)	19											83	74	77					19																	8145997		2203	4300	6503	8051997	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7343A>G	19.37:g.8145997T>C	ENSP00000470498:p.Asp2448Gly		8051997	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012025	0.75046	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.95588	-3.75	4.12	4.12	0.48240	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.125429	0.51477	U	0.000088	D	0.98333	0.9447	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.99222	1.0879	10	0.72032	D	0.01	.	13.4113	0.60944	0.0:0.0:0.0:1.0	.	2448;554	Q75N90;Q6ZNB8	FBN3_HUMAN;.	G	2448;554	ENSP00000270509:D2448G	ENSP00000270509:D2448G	D	-	2	0	FBN3	8051997	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.642000	0.83385	1.633000	0.50488	0.247000	0.18012	GAC		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		C	8145997	T	C	8145997	3	2	412	1	0	0	0	0	1	0	0	0	5704	1667	58	4	1110	4	FBN3	19	8145997	Missense_Mutation	SNP	T	TCGA-59-2351-01A-01W-0799-08		8145997	50982986	64	22551											
MUC16	94025	broad.mit.edu	37	19	9086728	9086728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr19:9086728G>C	ENST00000397910.4	-	1	5290	c.5087C>G	c.(5086-5088)tCa>tGa	p.S1696*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1696	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S1696*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTCCTAATGACTGGCTGAT	0.473																																																1	Substitution - Nonsense(1)	ovary(1)	19											147	137	140					19																	9086728		1969	4165	6134	8947728	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5087C>G	19.37:g.9086728G>C	ENSP00000381008:p.Ser1696*		8947728	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	44	10.718189	0.99456	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.33	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.5546	0.07860	0.0:0.2319:0.3137:0.4544	.	.	.	.	X	1696	.	ENSP00000381008:S1696X	S	-	2	0	MUC16	8947728	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-1.057000	0.03486	-1.198000	0.02669	0.313000	0.20887	TCA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9086728	G	C	9086728	4	2	412	1	0	0	0	0	0	1	0	0	9973	1294	45	3	38772	3	MUC16	19	9086728	Nonsense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	940731	9086728	50042255	65	22552											
COL5A3	50509	broad.mit.edu	37	19	10090669	10090669	+	Splice_Site	SNP	C	C	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr19:10090669C>A	ENST00000264828.3	-	36	2744		c.e36+1			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTCACTCACAGGGGGGCCC	0.602																																																1	Unknown(1)	ovary(1)	19											47	43	45					19																	10090669		2203	4300	6503	9951669	SO:0001630	splice_region_variant	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2658+1G>T	19.37:g.10090669C>A			9951669	Q9NZQ6	Splice_Site	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691617	0.68271	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6968	0.69129	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A3	9951669	1.000000	0.71417	0.952000	0.39060	0.821000	0.46438	7.190000	0.77755	2.058000	0.61347	0.467000	0.42956	.		0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Intron	A	10090669	C	A	10090669	5	1	412	1	0	0	0	0	0	0	1	0	3698	492	17	3	2706	3	COL5A3	19	10090669	Splice_Site	SNP	C	TCGA-59-2351-01A-01W-0799-08	1003941	10090669	49038314	66	22553											
SLC44A2	57153	broad.mit.edu	37	19	10746124	10746124	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr19:10746124A>G	ENST00000335757.5	+	14	1542	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	SLC44A2_ENST00000407327.4_Missense_Mutation_p.N387S|SLC44A2_ENST00000586078.1_Missense_Mutation_p.N389S			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	389					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.N389S(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCCACTTCCAACGAAGCGGTC	0.547																																																1	Substitution - Missense(1)	ovary(1)	19											140	143	142					19																	10746124		2203	4300	6503	10607124	SO:0001583	missense	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1166A>G	19.37:g.10746124A>G	ENSP00000336888:p.Asn389Ser		10607124	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336281	0.41398	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.21031	2.03;2.03	4.31	4.31	0.51392	.	0.098520	0.64402	D	0.000001	T	0.19685	0.0473	L	0.35723	1.085	0.46185	D	0.998916	B;B;B	0.15473	0.01;0.013;0.01	B;B;B	0.25987	0.039;0.065;0.039	T	0.05068	-1.0908	10	0.66056	D	0.02	.	12.5643	0.56300	1.0:0.0:0.0:0.0	.	389;389;387	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	S	387;389;389	ENSP00000385135:N387S;ENSP00000336888:N389S	ENSP00000336888:N389S	N	+	2	0	SLC44A2	10607124	1.000000	0.71417	0.985000	0.45067	0.791000	0.44710	4.691000	0.61738	1.806000	0.52798	0.374000	0.22700	AAC		0.547	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			G	10746124	A	G	10746124	3	3	412	1	0	0	0	0	1	0	0	0	14639	43	2	4	1255	4	SLC44A2	19	10746124	Missense_Mutation	SNP	A	TCGA-59-2351-01A-01W-0799-08	655455	10746124	48382859	67	22554											
RYR1	6261	broad.mit.edu	37	19	39023345	39023345	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr19:39023345A>G	ENST00000359596.3	+	78	11228	c.11228A>G	c.(11227-11229)gAa>gGa	p.E3743G	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.E3743G|RYR1_ENST00000355481.4_Missense_Mutation_p.E3738G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3743					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E3743G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGAACGGTGAAGCTGAAGAG	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											114	110	111					19																	39023345		2203	4300	6503	43715185	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11228A>G	19.37:g.39023345A>G	ENSP00000352608:p.Glu3743Gly		43715185	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	7.549	0.662359	0.14645	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97303	-4.28;-4.28;-4.33	5.37	4.36	0.52297	.	0.097231	0.39083	U	0.001476	D	0.92325	0.7565	N	0.22421	0.69	0.39292	D	0.964756	B;B;B	0.33171	0.4;0.264;0.172	B;B;B	0.33960	0.173;0.124;0.058	D	0.89052	0.3456	10	0.25106	T	0.35	.	9.3576	0.38175	0.9147:0.0:0.0853:0.0	.	3743;3738;3743	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	G	3743;3738;3743;663	ENSP00000352608:E3743G;ENSP00000347667:E3738G;ENSP00000354254:E3743G	ENSP00000347667:E3738G	E	+	2	0	RYR1	43715185	0.741000	0.28217	0.039000	0.18376	0.039000	0.13416	2.269000	0.43346	0.886000	0.36113	0.533000	0.62120	GAA		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	39023345	A	G	39023345	3	3	412	1	0	0	0	0	1	0	0	0	13771	246	9	4	11538	4	RYR1	19	39023345	Missense_Mutation	SNP	A	TCGA-59-2351-01A-01W-0799-08	28277221	39023345	20105638	68	22555											
TIMM50	92609	broad.mit.edu	37	19	39978811	39978811	+	Silent	SNP	C	C	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr19:39978811C>G	ENST00000607714.1	+	9	829	c.807C>G	c.(805-807)ggC>ggG	p.G269G	TIMM50_ENST00000599794.1_Silent_p.G73G|TIMM50_ENST00000314349.4_Silent_p.G372G|TIMM50_ENST00000544017.1_Silent_p.G156G			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	269	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.G372G(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTGGGACGGCAACTCTGATG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	19											203	204	203					19																	39978811		2203	4300	6503	44670651	SO:0001819	synonymous_variant	92609			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.807C>G	19.37:g.39978811C>G			44670651	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	ENST00000607714.1	37																																																																																					0.592	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		G	39978811	C	G	39978811	2	3	412	1	0	0	0	0	0	0	0	1	15913	697	25	3		3	TIMM50	19	39978811	Silent	SNP	C	TCGA-59-2351-01A-01W-0799-08	955466	39978811	19150172	69	22556											
CIC	23152	broad.mit.edu	37	19	42793479	42793479	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr19:42793479G>C	ENST00000575354.2	+	8	1321	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	CIC_ENST00000160740.3_Missense_Mutation_p.Q427H|CIC_ENST00000572681.2_Missense_Mutation_p.Q1336H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q427H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCGTTCTCAGCGTGCGGCCA	0.627			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Substitution - Missense(1)	ovary(1)	19											50	45	47					19																	42793479		2203	4300	6503	47485319	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1281G>C	19.37:g.42793479G>C	ENSP00000458663:p.Gln427His		47485319	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461610	0.26248	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	2.46	0.29980	.	.	.	.	.	T	0.43942	0.1270	N	0.24115	0.695	0.37038	D	0.896981	D	0.61080	0.989	P	0.56916	0.809	T	0.50145	-0.8862	8	0.87932	D	0	-14.2648	6.7091	0.23266	0.2892:0.0:0.7108:0.0	.	427	Q96RK0	CIC_HUMAN	H	427	.	ENSP00000160740:Q427H	Q	+	3	2	CIC	47485319	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.460000	0.45031	0.679000	0.31345	-0.254000	0.11334	CAG		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			C	42793479	G	C	42793479	3	2	412	1	0	0	0	0	1	0	0	0	3424	962	34	3	1311	3	CIC	19	42793479	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08	2814668	42793479	16335504	70	22557											
CCDC8	83987	broad.mit.edu	37	19	46915211	46915211	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr19:46915211C>G	ENST00000307522.3	-	1	1630	c.857G>C	c.(856-858)gGt>gCt	p.G286A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	286					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.G286A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCCCCCTGACCTGTGGGTGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	19											75	74	74					19																	46915211		2203	4300	6503	51607051	SO:0001583	missense	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.857G>C	19.37:g.46915211C>G	ENSP00000303158:p.Gly286Ala		51607051	Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	0.824	-0.747763	0.03065	.	.	ENSG00000169515	ENST00000307522	T	0.08720	3.06	4.44	-8.4	0.00965	.	1.190450	0.06508	N	0.737468	T	0.02047	0.0064	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46317	-0.9200	10	0.10111	T	0.7	1.6229	5.6542	0.17633	0.0839:0.1151:0.1598:0.6412	.	286	Q9H0W5	CCDC8_HUMAN	A	286	ENSP00000303158:G286A	ENSP00000303158:G286A	G	-	2	0	CCDC8	51607051	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.553000	0.06012	-0.890000	0.03945	-0.844000	0.03045	GGT		0.617	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		G	46915211	C	G	46915211	3	3	412	1	0	0	0	0	1	0	0	0	2853	507	18	3	763	3	CCDC8	19	46915211	Missense_Mutation	SNP	C	TCGA-59-2351-01A-01W-0799-08	4121732	46915211	12213772	71	22558											
ZSCAN5A	79149	broad.mit.edu	37	19	56734000	56734000	+	Silent	SNP	T	T	A			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr19:56734000T>A	ENST00000587340.1	-	6	1394	c.699A>T	c.(697-699)ccA>ccT	p.P233P	ZSCAN5A_ENST00000254165.3_Silent_p.P116P|ZSCAN5A_ENST00000587492.1_Silent_p.P87P|ZSCAN5A_ENST00000391713.1_Silent_p.P233P|ZSCAN5A_ENST00000592355.1_Silent_p.P233P			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	233					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P233P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATGTCAGTCCTGGGTTCTCTT	0.527																																																1	Substitution - coding silent(1)	ovary(1)	19											211	183	193					19																	56734000		2203	4300	6503	61425812	SO:0001819	synonymous_variant	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.699A>T	19.37:g.56734000T>A			61425812	B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	ENST00000587340.1	37	CCDS12941.1																																																																																				0.527	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		A	56734000	T	A	56734000	2	1	412	1	0	0	0	0	0	0	0	1	18238	1567	55	5		5	ZSCAN5A	19	56734000	Silent	SNP	T	TCGA-59-2351-01A-01W-0799-08	9818789	56734000	2394983	72	22559											
SIRPG	55423	broad.mit.edu	37	20	1617038	1617038	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chr20:1617038A>G	ENST00000303415.3	-	3	608	c.544T>C	c.(544-546)Tgg>Cgg	p.W182R	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.W149R|SIRPG_ENST00000216927.4_Missense_Mutation_p.W182R|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.W182R|SIRPG_ENST00000344103.4_Intron	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	182	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.W182R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TTTTTGAACCATTTCAGGGTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											176	157	164					20																	1617038		2203	4300	6503	1565038	SO:0001583	missense	55423			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.544T>C	20.37:g.1617038A>G	ENSP00000305529:p.Trp182Arg		1565038	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	14.95	2.687849	0.48097	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	2.09	2.09	0.27110	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000034	T	0.26048	0.0635	H	0.96333	3.805	0.39250	D	0.964015	D;D	0.89917	0.999;1.0	D;D	0.77557	0.983;0.99	T	0.06320	-1.0833	10	0.87932	D	0	.	6.0565	0.19815	1.0:0.0:0.0:0.0	.	182;182	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	R	149;182;182;182	ENSP00000370992:W149R;ENSP00000305529:W182R;ENSP00000370995:W182R;ENSP00000216927:W182R	ENSP00000216927:W182R	W	-	1	0	SIRPG	1565038	0.987000	0.35691	0.859000	0.33776	0.385000	0.30292	3.631000	0.54280	0.948000	0.37687	0.332000	0.21555	TGG		0.567	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		G	1617038	A	G	1617038	3	3	412	1	0	0	0	0	1	0	0	0	14339	217	8	4	631	4	SIRPG	20	1617038	Missense_Mutation	SNP	A	TCGA-59-2351-01A-01W-0799-08		1617038	61408482	73	22560											
AIFM1	9131	broad.mit.edu	37	X	129281494	129281494	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2351-01A-01W-0799-08	TCGA-59-2351-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	930e9c43-af1e-47bc-8ee2-b3bd8a11bb8b	a31b2f09-d6d7-4ce2-a7b4-fd706c7a1c0f	g.chrX:129281494G>T	ENST00000287295.3	-	5	809	c.579C>A	c.(577-579)ttC>ttA	p.F193L	AIFM1_ENST00000535724.1_Missense_Mutation_p.F106L|AIFM1_ENST00000319908.3_Missense_Mutation_p.F189L|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	193	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.F193L(1)|p.F189L(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TCCACTGTTTGAATCGCAGTG	0.418																																																2	Substitution - Missense(2)	ovary(2)	X											147	128	134					X																	129281494		2203	4300	6503	129109175	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.579C>A	X.37:g.129281494G>T	ENSP00000287295:p.Phe193Leu		129109175	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937308	0.73557	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.81330	-1.48;-1.48;-1.48	4.84	4.84	0.62591	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.044089	0.85682	D	0.000000	D	0.88724	0.6514	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.988;0.998	D	0.89613	0.3843	10	0.72032	D	0.01	-8.7587	10.7977	0.46470	0.0886:0.0:0.9114:0.0	.	193;189;193	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	L	189;106;193	ENSP00000315122:F189L;ENSP00000446113:F106L;ENSP00000287295:F193L	ENSP00000287295:F193L	F	-	3	2	AIFM1	129109175	1.000000	0.71417	0.995000	0.50966	0.685000	0.39939	4.379000	0.59575	2.234000	0.73211	0.544000	0.68410	TTC		0.418	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			T	129281494	G	T	129281494	3	4	412	1	0	0	0	0	1	0	0	0	426	1281	45	3	1322	3	AIFM1	23	129281494	Missense_Mutation	SNP	G	TCGA-59-2351-01A-01W-0799-08		129281494	25989066	74	22561											
NPPB	4879	broad.mit.edu	37	1	11918364	11918364	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr1:11918364G>A	ENST00000376468.3	-	2	392	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	99					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.R99W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CGTGGTGCCCGCAGGGTGTAG	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											47	43	44					1																	11918364		2203	4300	6503	11840951	SO:0001583	missense	4879			BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"Endogenous ligands"	7940	protein-coding gene	gene with protein product		600295	"natriuretic peptide precursor B"			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.295C>T	1.37:g.11918364G>A	ENSP00000365651:p.Arg99Trp		11840951	B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	37	CCDS140.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883455	0.51908	.	.	ENSG00000120937	ENST00000376468	T	0.28895	1.59	4.47	-3.04	0.05412	.	.	.	.	.	T	0.27278	0.0669	M	0.85945	2.785	0.09310	N	1	P	0.42584	0.784	B	0.32805	0.153	T	0.15235	-1.0444	9	0.87932	D	0	.	3.1407	0.06455	0.0813:0.2474:0.2621:0.4093	.	99	P16860	ANFB_HUMAN	W	99	ENSP00000365651:R99W	ENSP00000365651:R99W	R	-	1	2	NPPB	11840951	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.633000	0.05483	-0.894000	0.03925	-0.219000	0.12488	CGG		0.642	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		A	11918364	G	A	11918364	3	1	413	1	0	0	0	0	1	0	0	0	10592	1086	38	1	117	1	NPPB	1	11918364	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08		11918364	237332257	1	22562											
COL16A1	1307	broad.mit.edu	37	1	32126233	32126233	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr1:32126233G>A	ENST00000373672.3	-	62	4348	c.3832C>T	c.(3832-3834)Cct>Tct	p.P1278S	RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.P1278S|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1278	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.P1278S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ATGGCACCAGGTTCACCCTGC	0.547																																					Colon(143;498 1786 21362 25193 36625)											1	Substitution - Missense(1)	ovary(1)	1											60	63	62					1																	32126233		1910	4128	6038	31898820	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3832C>T	1.37:g.32126233G>A	ENSP00000362776:p.Pro1278Ser		31898820	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058924	0.76074	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.96011	-3.88;-3.88;-3.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.97288	0.9113	M	0.67700	2.07	0.49213	D	0.999766	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96452	0.9335	10	0.38643	T	0.18	.	18.7085	0.91648	0.0:0.0:1.0:0.0	.	1278;1276	Q07092;Q07092-2	COGA1_HUMAN;.	S	1278;1278;135	ENSP00000362776:P1278S;ENSP00000271069:P1278S;ENSP00000390281:P135S	ENSP00000271069:P1278S	P	-	1	0	COL16A1	31898820	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.721000	0.91446	2.793000	0.96121	0.591000	0.81541	CCT		0.547	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		A	32126233	G	A	32126233	3	1	413	1	0	0	0	0	1	0	0	0	3673	1261	44	2	1022	2	COL16A1	1	32126233	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	20207869	32126233	217124388	2	22563											
GRIK3	2899	broad.mit.edu	37	1	37356529	37356529	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr1:37356529G>C	ENST00000373091.3	-	2	300	c.284C>G	c.(283-285)aCc>aGc	p.T95S	GRIK3_ENST00000373093.4_Missense_Mutation_p.T95S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	95					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.T95S(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ACCCTTTTTGGTCGCCTCGAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											208	156	174					1																	37356529		2203	4300	6503	37129116	SO:0001583	missense	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.284C>G	1.37:g.37356529G>C	ENSP00000362183:p.Thr95Ser		37129116	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	7.385	0.629654	0.14257	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.22945	1.93;1.93	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.061178	0.64402	D	0.000002	T	0.08088	0.0202	N	0.00788	-1.185	0.43593	D	0.995946	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.26883	-1.0090	10	0.02654	T	1	.	14.9063	0.70721	0.0:0.0:0.8568:0.1432	.	95;95	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	95	ENSP00000362183:T95S;ENSP00000362185:T95S	ENSP00000362183:T95S	T	-	2	0	GRIK3	37129116	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.862000	0.87013	2.749000	0.94314	0.650000	0.86243	ACC		0.537	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		C	37356529	G	C	37356529	3	2	413	1	0	0	0	0	1	0	0	0	6775	1261	44	3	2535	3	GRIK3	1	37356529	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	5230296	37356529	211894092	3	22564											
GBP3	2635	broad.mit.edu	37	1	89478949	89478949	+	Nonsense_Mutation	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr1:89478949G>A	ENST00000370481.4	-	6	1007	c.787C>T	c.(787-789)Caa>Taa	p.Q263*	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	296	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.Q263*(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCTGCTACTTGTTGCACAAAT	0.438																																																1	Substitution - Nonsense(1)	ovary(1)	1											152	152	152					1																	89478949		2203	4300	6503	89251537	SO:0001587	stop_gained	2635			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.787C>T	1.37:g.89478949G>A	ENSP00000359512:p.Gln263*		89251537	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Nonsense_Mutation	SNP	ENST00000370481.4	37	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	31	5.078484	0.94000	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000445969;ENST00000235878	.	.	.	3.85	3.85	0.44370	.	0.062155	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	8.9878	0.36005	0.0:0.0:0.7791:0.2209	.	.	.	.	X	231;263;12;263	.	ENSP00000235878:Q263X	Q	-	1	0	GBP3	89251537	1.000000	0.71417	0.768000	0.31515	0.153000	0.21895	3.649000	0.54417	2.154000	0.67381	0.514000	0.50259	CAA		0.438	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		A	89478949	G	A	89478949	4	1	413	1	0	0	0	0	0	1	0	0	6275	1386	48	2	1024	2	GBP3	1	89478949	Nonsense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	52122420	89478949	159771672	4	22565											
LRRC8B	23507	broad.mit.edu	37	1	90048317	90048317	+	Silent	SNP	G	G	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr1:90048317G>T	ENST00000330947.2	+	5	468	c.108G>T	c.(106-108)ctG>ctT	p.L36L	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.L36L|LRRC8B_ENST00000358200.4_Silent_p.L36L	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	36					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L36L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGATCATGCTGCTGGTGGCCG	0.502																																																1	Substitution - coding silent(1)	ovary(1)	1											144	128	134					1																	90048317		2203	4300	6503	89820905	SO:0001819	synonymous_variant	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.108G>T	1.37:g.90048317G>T			89820905	D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																				0.502	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		T	90048317	G	T	90048317	2	4	413	1	0	0	0	0	0	0	0	1	9022	1306	46	3		3	LRRC8B	1	90048317	Silent	SNP	G	TCGA-59-2352-01A-01W-0799-08	569368	90048317	159202304	5	22566											
SCAMP3	10067	broad.mit.edu	37	1	155231519	155231519	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr1:155231519C>G	ENST00000302631.3	-	2	180	c.73G>C	c.(73-75)Gct>Cct	p.A25P	CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Intron|SCAMP3_ENST00000472397.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	25					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.A25P(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)			TGGATCACAGCTGGGTCCTGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											77	75	76					1																	155231519		2203	4300	6503	153498143	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.73G>C	1.37:g.155231519C>G	ENSP00000307275:p.Ala25Pro		153498143	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	33	5.217009	0.95104	.	.	ENSG00000116521	ENST00000302631	T	0.18174	2.23	5.33	5.33	0.75918	.	0.066613	0.64402	D	0.000015	T	0.18964	0.0455	L	0.38175	1.15	0.80722	D	1	D;D	0.63880	0.978;0.993	P;P	0.58721	0.836;0.844	T	0.00342	-1.1803	10	0.72032	D	0.01	-7.5742	14.4067	0.67088	0.0:1.0:0.0:0.0	.	25;25	Q6FHJ5;O14828	.;SCAM3_HUMAN	P	25	ENSP00000307275:A25P	ENSP00000307275:A25P	A	-	1	0	SCAMP3	153498143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.448000	0.44926	2.771000	0.95319	0.563000	0.77884	GCT		0.597	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		G	155231519	C	G	155231519	3	3	413	1	0	0	0	0	1	0	0	0	13875	797	28	3	1002	3	SCAMP3	1	155231519	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	65183202	155231519	94019102	6	22567											
C1orf116	79098	broad.mit.edu	37	1	207196403	207196403	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr1:207196403A>G	ENST00000359470.5	-	4	955	c.706T>C	c.(706-708)Tcc>Ccc	p.S236P	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	236						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S236P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CTTTCCTGGGAGCTGGATGGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											182	183	183					1																	207196403		2203	4300	6503	205263026	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.706T>C	1.37:g.207196403A>G	ENSP00000352447:p.Ser236Pro		205263026	C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	A	8.930	0.963133	0.18583	.	.	ENSG00000182795	ENST00000359470	T	0.08984	3.03	5.03	-6.82	0.01698	.	1.195680	0.06276	N	0.696552	T	0.04048	0.0113	N	0.19112	0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.43097	-0.9412	10	0.30854	T	0.27	2.6199	3.0472	0.06158	0.4839:0.1058:0.2938:0.1166	.	236	Q9BW04	SARG_HUMAN	P	236	ENSP00000352447:S236P	ENSP00000352447:S236P	S	-	1	0	C1orf116	205263026	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	-0.444000	0.06854	-0.988000	0.03489	-0.912000	0.02778	TCC		0.602	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		G	207196403	A	G	207196403	3	3	413	1	0	0	0	0	1	0	0	0	1989	304	11	4	1103	4	C1orf116	1	207196403	Missense_Mutation	SNP	A	TCGA-59-2352-01A-01W-0799-08	51964884	207196403	42054218	7	22568											
CHML	1122	broad.mit.edu	37	1	241798044	241798044	+	Nonsense_Mutation	SNP	G	G	T	rs374726700		TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr1:241798044G>T	ENST00000366553.1	-	1	1188	c.1025C>A	c.(1024-1026)tCa>tAa	p.S342*	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	342					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.S342*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CATTGCAATTGAGTGCAGTAC	0.388																																																1	Substitution - Nonsense(1)	ovary(1)	1											138	138	138					1																	241798044		2203	4299	6502	239864667	SO:0001587	stop_gained	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1025C>A	1.37:g.241798044G>T	ENSP00000355511:p.Ser342*		239864667	B2RAB9|Q17RE0|Q9H1Y4	Nonsense_Mutation	SNP	ENST00000366553.1	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	38	6.971382	0.97971	.	.	ENSG00000203668	ENST00000366553	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-8.5334	16.126	0.81395	0.0:0.0:1.0:0.0	.	.	.	.	X	342	.	ENSP00000355511:S342X	S	-	2	0	CHML	239864667	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.467000	0.90390	2.752000	0.94435	0.655000	0.94253	TCA		0.388	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		T	241798044	G	T	241798044	4	4	413	1	0	0	0	0	0	1	0	0	3351	1294	45	3	949	3	CHML	1	241798044	Nonsense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	34601641	241798044	7452577	8	22569											
OR2M5	127059	broad.mit.edu	37	1	248308552	248308552	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr1:248308552T>A	ENST00000366476.1	+	1	103	c.103T>A	c.(103-105)Ttt>Att	p.F35I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F35I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCTGGCCATCTTTTCAGTGGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											239	237	237					1																	248308552		2203	4296	6499	246375175	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.103T>A	1.37:g.248308552T>A	ENSP00000355432:p.Phe35Ile		246375175		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	10.68	1.419420	0.25552	.	.	ENSG00000162727	ENST00000366476	T	0.00583	6.41	3.28	3.28	0.37604	.	0.250947	0.20653	U	0.088177	T	0.01661	0.0053	M	0.90198	3.095	0.09310	N	1	P	0.48764	0.915	P	0.45577	0.486	T	0.24799	-1.0150	10	0.87932	D	0	.	11.5465	0.50696	0.0:0.0:0.0:1.0	.	35	A3KFT3	OR2M5_HUMAN	I	35	ENSP00000355432:F35I	ENSP00000355432:F35I	F	+	1	0	OR2M5	246375175	0.022000	0.18835	0.140000	0.22221	0.115000	0.19883	2.033000	0.41136	1.250000	0.43966	0.403000	0.27427	TTT		0.522	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		A	248308552	T	A	248308552	3	1	413	1	0	0	0	0	1	0	0	0	11013	1609	56	5	105	5	OR2M5	1	248308552	Missense_Mutation	SNP	T	TCGA-59-2352-01A-01W-0799-08	6510508	248308552	942069	9	22570											
GLI2	2736	broad.mit.edu	37	2	121736046	121736046	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr2:121736046G>C	ENST00000452319.1	+	10	1465	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.E141Q|GLI2_ENST00000361492.4_Missense_Mutation_p.E469Q					GLI family zinc finger 2									p.E469Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGAGAAGAAGGAGTTTGTGTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	2											153	149	150					2																	121736046		2203	4300	6503	121452516	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1405G>C	2.37:g.121736046G>C	ENSP00000390436:p.Glu469Gln		121452516		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017567	0.75161	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91351	-2.83;-2.83;-2.83	4.03	4.03	0.46877	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.114584	0.64402	D	0.000017	D	0.95098	0.8412	M	0.82823	2.61	0.58432	D	0.999997	P;D;P;P;B	0.64830	0.457;0.994;0.533;0.867;0.035	B;D;B;B;B	0.65684	0.038;0.937;0.041;0.284;0.013	D	0.95980	0.8977	10	0.87932	D	0	.	16.6998	0.85346	0.0:0.0:1.0:0.0	.	469;452;124;124;141	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	Q	469;469;141	ENSP00000390436:E469Q;ENSP00000354586:E469Q;ENSP00000312694:E141Q	ENSP00000312694:E141Q	E	+	1	0	GLI2	121452516	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.547000	0.98100	2.249000	0.74217	0.491000	0.48974	GAG		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		C	121736046	G	C	121736046	3	2	413	1	0	0	0	0	1	0	0	0	6438	1175	41	3	1439	3	GLI2	2	121736046	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08		121736046	121463327	10	22571											
ZEB2	9839	broad.mit.edu	37	2	145161613	145161613	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr2:145161613A>G	ENST00000558170.2	-	6	1861	c.677T>C	c.(676-678)cTg>cCg	p.L226P	ZEB2_ENST00000303660.4_Missense_Mutation_p.L226P|ZEB2_ENST00000539609.3_Missense_Mutation_p.L202P|ZEB2_ENST00000409487.3_Missense_Mutation_p.L226P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	226					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.L226P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGCTCCTTCAGTGATGTCAA	0.562																																					Melanoma(33;1235 1264 5755 16332)											1	Substitution - Missense(1)	ovary(1)	2											195	180	185					2																	145161613		2203	4300	6503	144878083	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.677T>C	2.37:g.145161613A>G	ENSP00000454157:p.Leu226Pro		144878083	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.74|18.74	3.689532|3.689532	0.68271|0.68271	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000419938;ENST00000431672	T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|.	0.84638|.	0.5516|.	M|M	0.91510|0.91510	3.215|3.215	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;0.999|.	D;D;D;D;D|.	0.97110|.	1.0;0.999;0.999;0.999;0.999|.	D|.	0.88107|.	0.2823|.	10|.	0.87932|.	D|.	0|.	-5.2988|-5.2988	15.8828|15.8828	0.79216|0.79216	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	202;91;202;225;226|.	F5H814;Q53TD9;B7Z2P2;A0JP08;O60315|.	.;.;.;.;ZEB2_HUMAN|.	P|R	221;202;226;226;226;226|115;192	ENSP00000443792:L202P;ENSP00000302501:L226P;ENSP00000386854:L226P;ENSP00000395496:L226P;ENSP00000376601:L226P|.	ENSP00000302501:L226P|.	L|X	-|-	2|1	0|0	ZEB2|ZEB2	144878083|144878083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.339000|9.339000	0.96797|0.96797	2.152000|2.152000	0.67230|0.67230	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.562	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		G	145161613	A	G	145161613	3	3	413	1	0	0	0	0	1	0	0	0	17624	188	7	4	2987	4	ZEB2	2	145161613	Missense_Mutation	SNP	A	TCGA-59-2352-01A-01W-0799-08	23425567	145161613	98037760	11	22572											
SETD5	55209	broad.mit.edu	37	3	9512490	9512490	+	Silent	SNP	A	A	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr3:9512490A>G	ENST00000406341.1	+	18	3262	c.3072A>G	c.(3070-3072)ggA>ggG	p.G1024G	SETD5_ENST00000302463.6_Silent_p.G926G|SETD5_ENST00000402466.1_Silent_p.G926G|SETD5_ENST00000402198.1_Silent_p.G1024G|SETD5_ENST00000407969.1_Silent_p.G1043G			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1024								p.G926G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTGCAGAAGGATTTTCCAGCA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	3											39	37	38					3																	9512490		1869	4108	5977	9487490	SO:0001819	synonymous_variant	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3072A>G	3.37:g.9512490A>G			9487490	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	9.182	1.023809	0.19433	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.51	-3.75	0.04372	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50039	-0.8874	4	.	.	.	-7.7214	9.171	0.37081	0.3359:0.4754:0.1886:0.0	.	.	.	.	V	692;355	.	.	I	+	1	0	SETD5	9487490	0.193000	0.23313	0.968000	0.41197	0.996000	0.88848	-0.584000	0.05800	-0.700000	0.05070	0.482000	0.46254	ATT		0.512	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		G	9512490	A	G	9512490	2	3	413	1	0	0	0	0	0	0	0	1	14137	320	12	4		4	SETD5	3	9512490	Silent	SNP	A	TCGA-59-2352-01A-01W-0799-08		9512490	188509940	12	22573											
TGM4	7047	broad.mit.edu	37	3	44952866	44952866	+	Silent	SNP	G	G	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr3:44952866G>T	ENST00000296125.4	+	13	1949	c.1881G>T	c.(1879-1881)ctG>ctT	p.L627L		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	627					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L627L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TGGAAAGCCTGGGCATCTCCT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	3											134	127	129					3																	44952866		2203	4300	6503	44927870	SO:0001819	synonymous_variant	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1881G>T	3.37:g.44952866G>T			44927870	Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	CCDS2723.1																																																																																				0.458	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		T	44952866	G	T	44952866	2	4	413	1	0	0	0	0	0	0	0	1	15832	1335	47	3		3	TGM4	3	44952866	Silent	SNP	G	TCGA-59-2352-01A-01W-0799-08	35440376	44952866	153069564	13	22574											
CD200R1	131450	broad.mit.edu	37	3	112648325	112648325	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr3:112648325T>C	ENST00000471858.1	-	3	395	c.163A>G	c.(163-165)Aca>Gca	p.T55A	CD200R1_ENST00000295863.4_Missense_Mutation_p.T33A|CD200R1_ENST00000308611.3_Missense_Mutation_p.T78A|CD200R1_ENST00000490004.1_Missense_Mutation_p.T55A|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78A	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	55	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.T78A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ACAGCATTTGTAGCCATCTTT	0.378																																																1	Substitution - Missense(1)	ovary(1)	3											83	80	81					3																	112648325		2203	4300	6503	114131015	SO:0001583	missense	131450			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.163A>G	3.37:g.112648325T>C	ENSP00000418928:p.Thr55Ala		114131015	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847826	0.32606	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.5	-1.56	0.08532	Immunoglobulin subtype (1);	0.685163	0.14450	N	0.318866	T	0.28532	0.0706	M	0.71581	2.175	0.09310	N	1	B;B;B;B;B	0.33120	0.398;0.012;0.012;0.016;0.028	B;B;B;B;B	0.37144	0.242;0.011;0.011;0.008;0.019	T	0.29852	-0.9998	10	0.62326	D	0.03	.	3.1769	0.06571	0.2783:0.2427:0.0:0.4789	.	33;55;78;55;78	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	A	55;78;33;78;55	ENSP00000418928:T55A;ENSP00000311035:T78A;ENSP00000295863:T33A;ENSP00000405733:T78A;ENSP00000418801:T55A	ENSP00000295863:T33A	T	-	1	0	CD200R1	114131015	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.407000	0.07178	-0.168000	0.10853	0.455000	0.32223	ACA		0.378	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		C	112648325	T	C	112648325	3	2	413	1	0	0	0	0	1	0	0	0	2981	1638	57	4	881	4	CD200R1	3	112648325	Missense_Mutation	SNP	T	TCGA-59-2352-01A-01W-0799-08	67695459	112648325	85374105	14	22575											
DCUN1D1	54165	broad.mit.edu	37	3	182681755	182681755	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr3:182681755A>C	ENST00000292782.4	-	3	456	c.303T>G	c.(301-303)agT>agG	p.S101R	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.S86R	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	101	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)		p.S101R(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TAATCAACACACTAATGCTGG	0.418																																																1	Substitution - Missense(1)	ovary(1)	3											152	125	134					3																	182681755		2203	4300	6503	184164449	SO:0001583	missense	54165			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"squamous cell carcinoma related oncogene"	605905	"DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.303T>G	3.37:g.182681755A>C	ENSP00000292782:p.Ser101Arg		184164449	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339431	0.41398	.	.	ENSG00000043093	ENST00000292782;ENST00000469954;ENST00000497606;ENST00000460412;ENST00000487822	.	.	.	5.94	0.982	0.19762	Domain of unknown function DUF298 (1);	0.037659	0.85682	D	0.000000	T	0.28699	0.0711	N	0.20445	0.575	0.53688	D	0.999976	D	0.53885	0.963	B	0.43950	0.437	T	0.06881	-1.0802	9	0.12430	T	0.62	-33.1485	9.5185	0.39120	0.7388:0.0:0.2612:0.0	.	101	Q96GG9	DCNL1_HUMAN	R	101;86;86;86;86	.	ENSP00000292782:S101R	S	-	3	2	DCUN1D1	184164449	0.995000	0.38212	0.997000	0.53966	0.995000	0.86356	0.654000	0.24918	-0.050000	0.13356	0.482000	0.46254	AGT		0.418	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		C	182681755	A	C	182681755	3	2	413	1	0	0	0	0	1	0	0	0	4313	156	6	5	496	5	DCUN1D1	3	182681755	Missense_Mutation	SNP	A	TCGA-59-2352-01A-01W-0799-08	70033430	182681755	15340675	15	22576											
PI4K2B	55300	broad.mit.edu	37	4	25262149	25262149	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr4:25262149G>C	ENST00000264864.6	+	6	1103	c.914G>C	c.(913-915)aGg>aCg	p.R305T	PI4K2B_ENST00000512921.1_Missense_Mutation_p.R209T	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	305	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.R305T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TTGAAAGACAGGGGCAATGAT	0.299																																																1	Substitution - Missense(1)	ovary(1)	4											115	124	121					4																	25262149		2203	4299	6502	24871247	SO:0001583	missense	55300			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.914G>C	4.37:g.25262149G>C	ENSP00000264864:p.Arg305Thr		24871247	Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890372	0.91889	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	D;D	0.98914	-5.23;-5.23	5.76	5.76	0.90799	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.046975	0.85682	D	0.000000	D	0.99468	0.9811	H	0.97806	4.08	0.80722	D	1	D	0.54207	0.965	P	0.59221	0.854	D	0.98335	1.0535	10	0.87932	D	0	-8.3356	20.3239	0.98686	0.0:0.0:1.0:0.0	.	305	Q8TCG2	P4K2B_HUMAN	T	209;305;274	ENSP00000423373:R209T;ENSP00000264864:R305T	ENSP00000264864:R305T	R	+	2	0	PI4K2B	24871247	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.192000	0.89718	2.881000	0.98747	0.650000	0.86243	AGG		0.299	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		C	25262149	G	C	25262149	3	2	413	1	0	0	0	0	1	0	0	0	11872	1000	35	3	936	3	PI4K2B	4	25262149	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08		25262149	165892127	16	22577											
FAM114A1	92689	broad.mit.edu	37	4	38907438	38907438	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr4:38907438T>G	ENST00000358869.2	+	6	789	c.613T>G	c.(613-615)Tct>Gct	p.S205A	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	205						cytoplasm (GO:0005737)		p.S205A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTCATCAGCCTCTCGGGGTAT	0.502																																																1	Substitution - Missense(1)	ovary(1)	4											53	48	50					4																	38907438		2203	4300	6503	38583833	SO:0001583	missense	92689				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.613T>G	4.37:g.38907438T>G	ENSP00000351740:p.Ser205Ala		38583833	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	T	0.816	-0.750357	0.03041	.	.	ENSG00000197712	ENST00000358869	T	0.38887	1.11	5.38	2.97	0.34412	.	0.404826	0.28754	N	0.014242	T	0.33469	0.0864	N	0.20685	0.6	0.09310	N	0.999995	D	0.53885	0.963	P	0.54889	0.763	T	0.12218	-1.0556	10	0.12430	T	0.62	-4.4632	7.3777	0.26837	0.0:0.2375:0.0:0.7625	.	205	Q8IWE2	NXP20_HUMAN	A	205	ENSP00000351740:S205A	ENSP00000351740:S205A	S	+	1	0	FAM114A1	38583833	1.000000	0.71417	0.072000	0.20136	0.047000	0.14425	2.158000	0.42329	1.000000	0.39049	-0.250000	0.11733	TCT		0.502	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		G	38907438	T	G	38907438	3	3	413	1	0	0	0	0	1	0	0	0	5403	1551	54	5	627	5	FAM114A1	4	38907438	Missense_Mutation	SNP	T	TCGA-59-2352-01A-01W-0799-08	13645289	38907438	152246838	17	22578											
CCNI	10983	broad.mit.edu	37	4	77976394	77976394	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr4:77976394G>C	ENST00000237654.4	-	6	1175	c.599C>G	c.(598-600)tCc>tGc	p.S200C	CCNI_ENST00000537948.1_Missense_Mutation_p.S186C|CCNI_ENST00000504697.1_5'Flank	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	200					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)			p.S200C(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						AGCAAGCATGGATCCTCTGAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	4											130	113	119					4																	77976394		2203	4300	6503	78195418	SO:0001583	missense	10983			D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.599C>G	4.37:g.77976394G>C	ENSP00000237654:p.Ser200Cys		78195418	B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921672	0.92319	.	.	ENSG00000118816	ENST00000237654;ENST00000537948	T;T	0.25749	1.78;1.78	5.86	5.86	0.93980	Cyclin-like (1);	0.045975	0.85682	D	0.000000	T	0.55529	0.1926	M	0.78049	2.395	0.80722	D	1	P;D	0.89917	0.941;1.0	P;D	0.70016	0.728;0.967	T	0.55573	-0.8120	10	0.87932	D	0	-1.0767	20.5632	0.99335	0.0:0.0:1.0:0.0	.	186;200	B7Z6X4;Q14094	.;CCNI_HUMAN	C	200;186	ENSP00000237654:S200C;ENSP00000441001:S186C	ENSP00000237654:S200C	S	-	2	0	CCNI	78195418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.937000	0.99478	0.650000	0.86243	TCC		0.453	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		C	77976394	G	C	77976394	3	2	413	1	0	0	0	0	1	0	0	0	2926	1174	41	3	542	3	CCNI	4	77976394	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	39068956	77976394	113177882	18	22579											
NAA11	84779	broad.mit.edu	37	4	80246442	80246442	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr4:80246442G>A	ENST00000286794.4	-	1	762	c.590C>T	c.(589-591)cCg>cTg	p.P197L	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	197					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.P197L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TTCGGTAGCCGGGTTCTTTTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	4											48	51	50					4																	80246442		2001	4181	6182	80465466	SO:0001583	missense	84779				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.590C>T	4.37:g.80246442G>A	ENSP00000286794:p.Pro197Leu		80465466	Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	G	5.896	0.349473	0.11182	.	.	ENSG00000156269	ENST00000286794	T	0.54071	0.59	5.17	1.37	0.22104	.	0.639758	0.13938	U	0.352433	T	0.24967	0.0606	N	0.04090	-0.28	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.17930	-1.0353	10	0.22706	T	0.39	-1.7313	6.0799	0.19935	0.2289:0.1373:0.6338:0.0	.	197	Q9BSU3	NAA11_HUMAN	L	197	ENSP00000286794:P197L	ENSP00000286794:P197L	P	-	2	0	NAA11	80465466	0.007000	0.16637	0.000000	0.03702	0.007000	0.05969	0.454000	0.21827	0.112000	0.17975	-0.302000	0.09304	CCG		0.557	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			A	80246442	G	A	80246442	3	1	413	1	0	0	0	0	1	0	0	0	10117	1116	39	1	103	1	NAA11	4	80246442	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	2270048	80246442	110907834	19	22580											
HSD17B11	51170	broad.mit.edu	37	4	88278431	88278431	+	Splice_Site	SNP	C	C	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr4:88278431C>A	ENST00000358290.4	-	5	1010	c.695G>T	c.(694-696)aGt>aTt	p.S232I	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Splice_Site_p.S188I	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	232					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.S232I(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTCAACTTACCTTGTACTTGG	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											130	108	115					4																	88278431		2202	4300	6502	88497455	SO:0001630	splice_region_variant	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.695+1G>T	4.37:g.88278431C>A			88497455	Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.772071	0.31320	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.89415	-2.51;0.72	5.66	-1.24	0.09435	NAD(P)-binding domain (1);	0.405503	0.27362	N	0.019716	T	0.79563	0.4467	L	0.43923	1.385	0.30964	N	0.723362	P	0.36647	0.563	B	0.33960	0.173	T	0.71276	-0.4641	9	.	.	.	.	6.6355	0.22881	0.0:0.5003:0.117:0.3827	.	232	Q8NBQ5	DHB11_HUMAN	I	232;188	ENSP00000351035:S232I;ENSP00000423775:S188I	.	S	-	2	0	HSD17B11	88497455	0.999000	0.42202	0.705000	0.30386	0.638000	0.38207	0.366000	0.20365	-0.676000	0.05238	0.561000	0.74099	AGT		0.378	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245	Missense_Mutation	A	88278431	C	A	88278431	5	1	413	1	0	0	0	0	0	0	1	0	7380	695	24	3	219	3	HSD17B11	4	88278431	Splice_Site	SNP	C	TCGA-59-2352-01A-01W-0799-08	8031989	88278431	102875845	20	22581											
ALPK1	80216	broad.mit.edu	37	4	113352995	113352995	+	Silent	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr4:113352995G>A	ENST00000458497.1	+	11	2571	c.2292G>A	c.(2290-2292)gaG>gaA	p.E764E	ALPK1_ENST00000504176.2_Silent_p.E686E|ALPK1_ENST00000177648.9_Silent_p.E764E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	764							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E764E(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGGGAAAGAGCAGGGAGAAG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	4											60	65	63					4																	113352995		2203	4300	6503	113572444	SO:0001819	synonymous_variant	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2292G>A	4.37:g.113352995G>A			113572444	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	CCDS3697.1																																																																																				0.458	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		A	113352995	G	A	113352995	2	1	413	1	0	0	0	0	0	0	0	1	544	962	34	2		2	ALPK1	4	113352995	Silent	SNP	G	TCGA-59-2352-01A-01W-0799-08	25074564	113352995	77801281	21	22582											
CDH9	1007	broad.mit.edu	37	5	26988417	26988417	+	Silent	SNP	T	T	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr5:26988417T>C	ENST00000231021.4	-	2	196	c.24A>G	c.(22-24)ccA>ccG	p.P8P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	8					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P8P(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGATGAATAATGGTATATAAT	0.338																																					Melanoma(8;187 585 15745 40864 52829)											1	Substitution - coding silent(1)	ovary(1)	5											127	133	131					5																	26988417		2203	4300	6503	27024174	SO:0001819	synonymous_variant	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.24A>G	5.37:g.26988417T>C			27024174	Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																				0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		C	26988417	T	C	26988417	2	2	413	1	0	0	0	0	0	0	0	1	3117	1451	51	4		4	CDH9	5	26988417	Silent	SNP	T	TCGA-59-2352-01A-01W-0799-08		26988417	153926843	22	22583											
ANKRD32	84250	broad.mit.edu	37	5	94022410	94022410	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr5:94022410C>G	ENST00000265140.5	+	16	2527	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	703						centrosome (GO:0005813)|nucleus (GO:0005634)		p.S67C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GAGCCACTCTCTCTTCAGAAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	5											100	101	101					5																	94022410		2203	4300	6503	94048166	SO:0001583	missense	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2108C>G	5.37:g.94022410C>G	ENSP00000265140:p.Ser703Cys		94048166	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813109	0.70912	.	.	ENSG00000133302	ENST00000265140	T	0.65732	-0.17	5.63	5.63	0.86233	.	0.077565	0.64402	D	0.000008	T	0.65863	0.2732	L	0.34521	1.04	0.38129	D	0.938108	D	0.69078	0.997	P	0.57371	0.819	T	0.70960	-0.4730	10	0.87932	D	0	.	14.4887	0.67634	0.147:0.853:0.0:0.0	.	703	Q9BQI6	ANR32_HUMAN	C	703	ENSP00000265140:S703C	ENSP00000265140:S703C	S	+	2	0	ANKRD32	94048166	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.166000	0.71896	2.798000	0.96311	0.655000	0.94253	TCT		0.358	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		G	94022410	C	G	94022410	3	3	413	1	0	0	0	0	1	0	0	0	660	913	32	3	2166	3	ANKRD32	5	94022410	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	67033993	94022410	86892850	23	22584											
FBXL21	3950	broad.mit.edu	37	5	135273113	135273113	+	Intron	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr5:135273113G>A	ENST00000522943.1	-	3	418				FBXL21_ENST00000467490.1_RNA|FBXL21_ENST00000297158.9_RNA|LECT2_ENST00000471827.1_5'Flank			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.?(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCTGTCTAGGTTGACAGTA	0.368																																																1	Unknown(1)	ovary(1)	5											58	57	57					5																	135273113		1856	4105	5961	135301012	SO:0001627	intron_variant	26223			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000522943.1:c.289+13798C>T	5.37:g.135273113G>A			135301012	B2RA90|O14565|Q52M49	Splice_Site	SNP	ENST00000522943.1	37																																																																																					0.368	LECT2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000381629.1	NM_002302		A	135273113	G	A	135273113	1	1	413	0	1	0	0	0	0	0	0	0	5718	1014	35	2		2	FBXL21	5	135273113	Intron	SNP	G	TCGA-59-2352-01A-01W-0799-08	41250703	135273113	45642147	24	22585											
PCDHA9	9752	broad.mit.edu	37	5	140229031	140229031	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr5:140229031G>T	ENST00000532602.1	+	1	1984	c.951G>T	c.(949-951)aaG>aaT	p.K317N	PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.K317N|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K317N(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCACACAAGATCCCAGTCG	0.448																																					Melanoma(55;1800 1972 14909)											1	Substitution - Missense(1)	ovary(1)	5											59	55	56					5																	140229031		2195	4260	6455	140209215	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.951G>T	5.37:g.140229031G>T	ENSP00000436042:p.Lys317Asn		140209215	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846203	0.32606	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51325	0.71;0.71	3.79	-4.33	0.03677	Cadherin (4);Cadherin-like (1);	0.562209	0.12831	U	0.435615	T	0.40272	0.1110	N	0.26092	0.79	0.09310	N	1	B;D	0.58268	0.007;0.982	B;P	0.58970	0.067;0.849	T	0.32666	-0.9898	10	0.87932	D	0	.	2.8774	0.05635	0.4008:0.1135:0.3732:0.1125	.	317;317	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	317	ENSP00000436042:K317N;ENSP00000367362:K317N	ENSP00000367362:K317N	K	+	3	2	PCDHA9	140209215	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-1.147000	0.03188	-0.920000	0.03799	0.313000	0.20887	AAG		0.448	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		T	140229031	G	T	140229031	3	4	413	1	0	0	0	0	1	0	0	0	11531	933	33	3	953	3	PCDHA9	5	140229031	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	4955918	140229031	40686229	25	22586											
RARS	5917	broad.mit.edu	37	5	167929031	167929031	+	Silent	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr5:167929031G>A	ENST00000231572.3	+	9	1032	c.978G>A	c.(976-978)ttG>ttA	p.L326L	RARS_ENST00000520421.1_3'UTR|RARS_ENST00000538719.1_Silent_p.L120L	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	326					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.L326L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATGATGCATTGGACGTCTCTT	0.313																																																1	Substitution - coding silent(1)	ovary(1)	5											92	99	97					5																	167929031		2202	4294	6496	167861609	SO:0001819	synonymous_variant	5917			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.978G>A	5.37:g.167929031G>A			167861609	B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	ENST00000231572.3	37	CCDS4367.1																																																																																				0.313	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		A	167929031	G	A	167929031	2	1	413	1	0	0	0	0	0	0	0	1	13061	1339	47	2		2	RARS	5	167929031	Silent	SNP	G	TCGA-59-2352-01A-01W-0799-08	27700000	167929031	12986229	26	22587											
CUL9	23113	broad.mit.edu	37	6	43174143	43174143	+	Missense_Mutation	SNP	C	C	T	rs199801229		TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr6:43174143C>T	ENST00000252050.4	+	26	5191	c.5107C>T	c.(5107-5109)Cgc>Tgc	p.R1703C	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Missense_Mutation_p.R1593C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1703C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1703					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.R1703C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTGTCACCACGCTGCTGGCC	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		20085	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6											119	118	118					6																	43174143		2203	4300	6503	43282121	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5107C>T	6.37:g.43174143C>T	ENSP00000252050:p.Arg1703Cys		43282121	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	25.3	4.628807	0.87560	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74315	-0.83;-0.83;-0.83	5.36	5.36	0.76844	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84050	0.0369	10	0.87932	D	0	-24.5937	19.0923	0.93231	0.0:1.0:0.0:0.0	.	1593;1703;1703	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1703;1593;1703	ENSP00000252050:R1703C;ENSP00000346490:R1593C;ENSP00000361730:R1703C	ENSP00000252050:R1703C	R	+	1	0	CUL9	43282121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.343000	0.65976	2.507000	0.84556	0.591000	0.81541	CGC		0.507	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		T	43174143	C	T	43174143	3	4	413	1	0	0	0	0	1	0	0	0	4061	536	19	1	5205	1	CUL9	6	43174143	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08		43174143	127940924	27	22588											
CUL9	23113	broad.mit.edu	37	6	43174215	43174215	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr6:43174215G>T	ENST00000252050.4	+	26	5263	c.5179G>T	c.(5179-5181)Gcc>Tcc	p.A1727S	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Missense_Mutation_p.A1617S|CUL9_ENST00000372647.2_Missense_Mutation_p.A1727S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1727					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.A1727S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATTCTGTGATGCCCTTGACCG	0.542																																																1	Substitution - Missense(1)	ovary(1)	6											107	104	105					6																	43174215		2203	4300	6503	43282193	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5179G>T	6.37:g.43174215G>T	ENSP00000252050:p.Ala1727Ser		43282193	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438999	0.25900	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74632	-0.86;-0.86;-0.86	5.36	3.3	0.37823	Cullin, N-terminal (1);Cullin homology (2);	0.605711	0.18317	N	0.144916	T	0.32071	0.0817	N	0.22421	0.69	0.28811	N	0.898217	P;B;B	0.38370	0.628;0.023;0.023	B;B;B	0.31869	0.137;0.033;0.033	T	0.05131	-1.0904	10	0.22109	T	0.4	-21.2764	3.416	0.07376	0.0999:0.3278:0.4338:0.1384	.	1617;1727;1727	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	S	1727;1617;1727	ENSP00000252050:A1727S;ENSP00000346490:A1617S;ENSP00000361730:A1727S	ENSP00000252050:A1727S	A	+	1	0	CUL9	43282193	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	1.487000	0.35540	2.507000	0.84556	0.591000	0.81541	GCC		0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		T	43174215	G	T	43174215	3	4	413	1	0	0	0	0	1	0	0	0	4061	1319	46	3	5277	3	CUL9	6	43174215	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	72	43174215	127940852	28	22589											
BAI3	577	broad.mit.edu	37	6	69723982	69723982	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr6:69723982G>T	ENST00000370598.1	+	12	2803	c.1982G>T	c.(1981-1983)tGg>tTg	p.W661L		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	661					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W661L(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGAAAAATGGGAAGATGCA	0.289																																																1	Substitution - Missense(1)	ovary(1)	6											64	67	66					6																	69723982		2203	4299	6502	69780703	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1982G>T	6.37:g.69723982G>T	ENSP00000359630:p.Trp661Leu		69780703	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725729	0.89298	.	.	ENSG00000135298	ENST00000370598	T	0.81078	-1.45	5.76	5.76	0.90799	Domain of unknown function DUF3497 (1);	0.132166	0.53938	D	0.000042	D	0.88153	0.6360	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88313	0.2957	10	0.87932	D	0	.	19.952	0.97200	0.0:0.0:1.0:0.0	.	661	O60242	BAI3_HUMAN	L	661	ENSP00000359630:W661L	ENSP00000359630:W661L	W	+	2	0	BAI3	69780703	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.781000	0.91805	2.728000	0.93425	0.655000	0.94253	TGG		0.289	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			T	69723982	G	T	69723982	3	4	413	1	0	0	0	0	1	0	0	0	1300	1357	47	3	2020	3	BAI3	6	69723982	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	26549767	69723982	101391085	29	22590											
PRDM1	639	broad.mit.edu	37	6	106553119	106553119	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr6:106553119C>T	ENST00000369096.4	+	5	1318	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	PRDM1_ENST00000369089.3_Missense_Mutation_p.P228S|PRDM1_ENST00000369091.2_Missense_Mutation_p.P326S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	362					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P326S(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TACGGTGTCCCCTGTGGGCCC	0.627			"D, N, Mis, F, S"		DLBCL																																		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	1	Substitution - Missense(1)	ovary(1)	6											64	57	59					6																	106553119		2203	4300	6503	106659812	SO:0001583	missense	639				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1084C>T	6.37:g.106553119C>T	ENSP00000358092:p.Pro362Ser		106659812	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816724	0.32145	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.46451	0.87;0.87;0.87	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	L	0.55481	1.735	0.53688	D	0.99997	P;D	0.89917	0.533;1.0	B;D	0.69479	0.083;0.964	T	0.50516	-0.8819	10	0.48119	T	0.1	-17.9135	19.427	0.94746	0.0:1.0:0.0:0.0	.	228;362	Q86WM7;O75626	.;PRDM1_HUMAN	S	326;362;326;228	ENSP00000358087:P326S;ENSP00000358092:P362S;ENSP00000358085:P228S	ENSP00000358085:P228S	P	+	1	0	PRDM1	106659812	1.000000	0.71417	0.296000	0.24974	0.327000	0.28475	4.268000	0.58883	2.603000	0.88011	0.655000	0.94253	CCT		0.627	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			T	106553119	C	T	106553119	3	4	413	1	0	0	0	0	1	0	0	0	12453	623	22	2	1115	2	PRDM1	6	106553119	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	36829137	106553119	64561948	30	22591											
ARHGAP18	93663	broad.mit.edu	37	6	129905237	129905237	+	Silent	SNP	C	C	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr6:129905237C>G	ENST00000368149.2	-	13	1822	c.1734G>C	c.(1732-1734)gtG>gtC	p.V578V	ARHGAP18_ENST00000463225.1_5'UTR	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18									p.V578V(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCACTCGAATCACTCCCTGAG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	6											127	110	116					6																	129905237		2203	4300	6503	129946930	SO:0001819	synonymous_variant	93663			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1734G>C	6.37:g.129905237C>G			129946930		Silent	SNP	ENST00000368149.2	37	CCDS34535.1																																																																																				0.453	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		G	129905237	C	G	129905237	2	3	413	1	0	0	0	0	0	0	0	1	868	813	29	3		3	ARHGAP18	6	129905237	Silent	SNP	C	TCGA-59-2352-01A-01W-0799-08	23352118	129905237	41209830	31	22592											
IL20RA	53832	broad.mit.edu	37	6	137322974	137322974	+	Silent	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr6:137322974C>T	ENST00000316649.5	-	7	1618	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	IL20RA_ENST00000367748.1_Silent_p.A350A|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Silent_p.A412A|IL20RA_ENST00000468393.1_5'Flank	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	461					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.A461A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGTGCTCCTGCGCCAGGGGGT	0.587																																																1	Substitution - coding silent(1)	ovary(1)	6											71	70	70					6																	137322974		2203	4300	6503	137364667	SO:0001819	synonymous_variant	53832			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1383G>A	6.37:g.137322974C>T			137364667	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Silent	SNP	ENST00000316649.5	37	CCDS5181.1																																																																																				0.587	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		T	137322974	C	T	137322974	2	4	413	1	0	0	0	0	0	0	0	1	7668	755	27	1		1	IL20RA	6	137322974	Silent	SNP	C	TCGA-59-2352-01A-01W-0799-08	7417737	137322974	33792093	32	22593											
CNTNAP2	26047	broad.mit.edu	37	7	146829419	146829419	+	Missense_Mutation	SNP	G	G	A	rs548409884		TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr7:146829419G>A	ENST00000361727.3	+	8	1682	c.1166G>A	c.(1165-1167)cGg>cAg	p.R389Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	389					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R389Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTGCCCGGACGGCTTAACCAG	0.468										HNSCC(39;0.1)			G|||	1	0.000199681	0	0	5008	,	,		19716	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	7											130	121	124					7																	146829419		2203	4300	6503	146460352	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1166G>A	7.37:g.146829419G>A	ENSP00000354778:p.Arg389Gln		146460352	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894153	0.33442	.	.	ENSG00000174469	ENST00000361727	T	0.79352	-1.26	5.7	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.101290	0.39083	N	0.001476	T	0.67757	0.2927	L	0.36672	1.1	0.80722	D	1	B	0.24186	0.099	B	0.17433	0.018	T	0.62407	-0.6861	10	0.30078	T	0.28	.	13.011	0.58731	0.0848:0.0:0.9152:0.0	.	389	Q9UHC6	CNTP2_HUMAN	Q	389	ENSP00000354778:R389Q	ENSP00000354778:R389Q	R	+	2	0	CNTNAP2	146460352	1.000000	0.71417	0.336000	0.25522	0.986000	0.74619	5.337000	0.65941	1.246000	0.43901	0.591000	0.81541	CGG		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	146829419	G	A	146829419	3	1	413	1	0	0	0	0	1	0	0	0	3647	1116	39	1	1196	1	CNTNAP2	7	146829419	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08		146829419	12309244	33	22594											
CSMD3	114788	broad.mit.edu	37	8	114186094	114186094	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr8:114186094A>G	ENST00000297405.5	-	4	810	c.566T>C	c.(565-567)tTa>tCa	p.L189S	CSMD3_ENST00000455883.2_Missense_Mutation_p.L189S|CSMD3_ENST00000343508.3_Missense_Mutation_p.L149S|CSMD3_ENST00000352409.3_Missense_Mutation_p.L189S|CSMD3_ENST00000519485.1_5'Flank	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	189	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L189S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGCCATATAATACACCTTT	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											98	91	93					8																	114186094		2203	4300	6503	114255270	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.566T>C	8.37:g.114186094A>G	ENSP00000297405:p.Leu189Ser		114255270	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723500	0.48728	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.45126	D	0.000384	T	0.70020	0.3176	N	0.26042	0.785	0.33980	D	0.647835	D;D;B;B	0.76494	0.999;0.999;0.01;0.051	D;D;B;B	0.87578	0.996;0.998;0.005;0.025	T	0.72795	-0.4185	10	0.20046	T	0.44	.	14.3781	0.66892	1.0:0.0:0.0:0.0	.	189;189;189;149	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	S	149;189;189;189	ENSP00000345799:L149S;ENSP00000297405:L189S;ENSP00000412263:L189S;ENSP00000343124:L189S	ENSP00000297405:L189S	L	-	2	0	CSMD3	114255270	0.992000	0.36948	0.992000	0.48379	0.800000	0.45204	9.221000	0.95188	2.053000	0.61076	0.533000	0.62120	TTA		0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	114186094	A	G	114186094	3	3	413	1	0	0	0	0	1	0	0	0	3946	372	13	4	10829	4	CSMD3	8	114186094	Missense_Mutation	SNP	A	TCGA-59-2352-01A-01W-0799-08		114186094	32177928	34	22595											
KLHL9	55958	broad.mit.edu	37	9	21333629	21333629	+	Silent	SNP	A	A	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr9:21333629A>G	ENST00000359039.4	-	1	1750	c.1230T>C	c.(1228-1230)gcT>gcC	p.A410A	KLHL9_ENST00000537938.1_Silent_p.A342A			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	410					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.A410A(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CCAGTTCACCAGCTGCACTGC	0.443																																																1	Substitution - coding silent(1)	ovary(1)	9											112	101	105					9																	21333629		2203	4300	6503	21323629	SO:0001819	synonymous_variant	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1230T>C	9.37:g.21333629A>G			21323629	Q8TCQ2	Silent	SNP	ENST00000359039.4	37	CCDS6503.1																																																																																				0.443	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		G	21333629	A	G	21333629	2	3	413	1	0	0	0	0	0	0	0	1	8396	175	7	4		4	KLHL9	9	21333629	Silent	SNP	A	TCGA-59-2352-01A-01W-0799-08		21333629	119879802	35	22596											
SFMBT2	57713	broad.mit.edu	37	10	7412274	7412274	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr10:7412274G>A	ENST00000361972.4	-	3	254	c.164C>T	c.(163-165)gCa>gTa	p.A55V	SFMBT2_ENST00000397160.3_Missense_Mutation_p.A55V|SFMBT2_ENST00000379711.2_Missense_Mutation_p.A55V|SFMBT2_ENST00000379713.3_Missense_Mutation_p.A55V|SFMBT2_ENST00000397167.1_Missense_Mutation_p.A55V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	55					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.A55V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGCAGCACTTGCTCCTGTCTC	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											138	127	131					10																	7412274		2203	4300	6503	7452280	SO:0001583	missense	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.164C>T	10.37:g.7412274G>A	ENSP00000355109:p.Ala55Val		7452280	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546303	0.27652	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.37235	2.32;2.32;1.68;1.21;1.21	5.54	5.54	0.83059	.	0.177037	0.48767	D	0.000161	T	0.42832	0.1220	M	0.67397	2.05	0.34946	D	0.750785	P;B	0.35226	0.491;0.27	B;B	0.37047	0.24;0.101	T	0.52510	-0.8566	10	0.30078	T	0.28	.	19.4925	0.95056	0.0:0.0:1.0:0.0	.	55;55	Q5T981;Q5VUG0	.;SMBT2_HUMAN	V	55	ENSP00000355109:A55V;ENSP00000380353:A55V;ENSP00000369035:A55V;ENSP00000369033:A55V;ENSP00000380346:A55V	ENSP00000355109:A55V	A	-	2	0	SFMBT2	7452280	1.000000	0.71417	0.243000	0.24186	0.020000	0.10135	8.934000	0.92915	2.599000	0.87857	0.655000	0.94253	GCA		0.433	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		A	7412274	G	A	7412274	3	1	413	1	0	0	0	0	1	0	0	0	14161	1319	46	2	2596	2	SFMBT2	10	7412274	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08		7412274	128122473	36	22597											
ZEB1	6935	broad.mit.edu	37	10	31809186	31809186	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr10:31809186C>T	ENST00000320985.10	+	7	1033	c.923C>T	c.(922-924)aCa>aTa	p.T308I	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.T309I|ZEB1_ENST00000560721.2_Missense_Mutation_p.T288I|ZEB1_ENST00000446923.2_Missense_Mutation_p.T292I|ZEB1_ENST00000542815.3_Missense_Mutation_p.T241I			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	308					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T308I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GGACTCAAGACATCTCAGTGT	0.453																																					Ovarian(40;423 959 14296 36701 49589)											1	Substitution - Missense(1)	ovary(1)	10											131	127	128					10																	31809186		2203	4300	6503	31849192	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.923C>T	10.37:g.31809186C>T	ENSP00000319248:p.Thr308Ile		31849192	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303926	0.40795	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.14516	2.82;2.5;2.56;2.5;2.55	5.62	5.62	0.85841	.	0.091101	0.47852	D	0.000209	T	0.15739	0.0379	L	0.46157	1.445	0.41295	D	0.987002	P;B;B;P;B;B;P;P	0.39737	0.685;0.161;0.112;0.558;0.265;0.032;0.558;0.558	B;B;B;B;B;B;B;B	0.39876	0.312;0.107;0.08;0.232;0.068;0.041;0.232;0.232	T	0.00934	-1.1509	10	0.56958	D	0.05	-14.4569	13.3648	0.60678	0.0:0.9185:0.0:0.0815	.	241;308;292;308;308;288;309;308	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	I	90;308;309;308;241;308;288;167;199;292	ENSP00000444282:T90I;ENSP00000354487:T309I;ENSP00000444891:T241I;ENSP00000319248:T308I;ENSP00000391612:T292I	ENSP00000319248:T308I	T	+	2	0	ZEB1	31849192	0.991000	0.36638	0.968000	0.41197	0.989000	0.77384	2.947000	0.49058	2.645000	0.89757	0.655000	0.94253	ACA		0.453	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		T	31809186	C	T	31809186	3	4	413	1	0	0	0	0	1	0	0	0	17623	478	17	2	963	2	ZEB1	10	31809186	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	24396912	31809186	103725561	37	22598											
A1CF	29974	broad.mit.edu	37	10	52587996	52587996	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr10:52587996C>G	ENST00000373993.1	-	5	708	c.664G>C	c.(664-666)Gtt>Ctt	p.V222L	A1CF_ENST00000374001.2_Missense_Mutation_p.V222L|A1CF_ENST00000373995.3_Missense_Mutation_p.V230L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395489.2_Missense_Mutation_p.V215L|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.V222L|A1CF_ENST00000282641.2_Missense_Mutation_p.V222L			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	222					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTTCATCAACTTCTACTTCT	0.348																																																0			10											152	147	149					10																	52587996		2203	4299	6502	52258002	SO:0001583	missense	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.664G>C	10.37:g.52587996C>G	ENSP00000363105:p.Val222Leu		52258002	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909319	0.72868	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.74;2.73;2.74	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.60012	1.86	0.80722	D	1	B;B;P;B	0.47106	0.007;0.046;0.89;0.017	B;B;D;B	0.66847	0.052;0.128;0.947;0.032	T	0.00419	-1.1751	10	0.38643	T	0.18	.	16.8465	0.85982	0.0:1.0:0.0:0.0	.	215;222;222;230	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	L	222;222;222;230;222;205;215	ENSP00000363113:V222L;ENSP00000363105:V222L;ENSP00000363109:V222L;ENSP00000363107:V230L;ENSP00000282641:V222L;ENSP00000378868:V215L	ENSP00000282641:V222L	V	-	1	0	A1CF	52258002	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.567000	0.86603	0.563000	0.77884	GTT		0.348	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		G	52587996	C	G	52587996	3	3	413	1	0	0	0	0	1	0	0	0	2	565	20	3	1148	3	A1CF	10	52587996	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	20778810	52587996	82946751	38	22599											
PCDH15	65217	broad.mit.edu	37	10	55568462	55568462	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr10:55568462G>C	ENST00000395445.1	-	36	5742	c.5348C>G	c.(5347-5349)aCa>aGa	p.T1783R	PCDH15_ENST00000395446.1_Missense_Mutation_p.T979R|PCDH15_ENST00000395442.1_Missense_Mutation_p.T648R|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.T717R|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAAAGTGCTGTGTTGTAACC	0.483										HNSCC(58;0.16)																																						0			10											58	50	52					10																	55568462		1568	3582	5150	55238468	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5348C>G	10.37:g.55568462G>C	ENSP00000378832:p.Thr1783Arg		55238468	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37		.	.	.	.	.	.	.	.	.	.	G	14.60	2.582422	0.46006	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.62498	0.02;0.1;0.38;0.27	5.16	5.16	0.70880	.	.	.	.	.	T	0.47783	0.1464	N	0.14661	0.345	0.80722	D	1	P;P	0.43024	0.798;0.798	B;B	0.42062	0.374;0.374	T	0.56123	-0.8031	9	0.87932	D	0	.	12.5247	0.56079	0.0:0.0:0.833:0.167	.	1781;1783	C6ZEF5;A2A3E2	.;.	R	1783;979;648;717	ENSP00000378832:T1783R;ENSP00000378833:T979R;ENSP00000378829:T648R;ENSP00000378827:T717R	ENSP00000378827:T717R	T	-	2	0	PCDH15	55238468	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	4.267000	0.58877	2.411000	0.81874	0.563000	0.77884	ACA		0.483	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		C	55568462	G	C	55568462	3	2	413	1	0	0	0	0	1	0	0	0	11511	1377	48	3	568	3	PCDH15	10	55568462	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	2980466	55568462	79966285	39	22600											
CCDC6	8030	broad.mit.edu	37	10	61574420	61574420	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr10:61574420C>A	ENST00000263102.6	-	4	907	c.676G>T	c.(676-678)Gct>Tct	p.A226S		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	226	5 X 29 AA tandem repeats.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)	p.A226S(1)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CGCTTTTCAGCTTCAAGCTTA	0.443			T	RET	NSCLC																																		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	1	Substitution - Missense(1)	ovary(1)	10											360	245	284					10																	61574420		2203	4299	6502	61244426	SO:0001583	missense	8030			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.676G>T	10.37:g.61574420C>A	ENSP00000263102:p.Ala226Ser		61244426	Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545911	0.86022	.	.	ENSG00000108091	ENST00000263102	T	0.80738	-1.41	5.83	5.83	0.93111	.	0.093423	0.64402	D	0.000001	T	0.79522	0.4460	L	0.34521	1.04	0.80722	D	1	P	0.36909	0.573	P	0.44772	0.46	T	0.74737	-0.3564	10	0.26408	T	0.33	-9.7787	20.1152	0.97926	0.0:1.0:0.0:0.0	.	226	Q16204	CCDC6_HUMAN	S	226	ENSP00000263102:A226S	ENSP00000263102:A226S	A	-	1	0	CCDC6	61244426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.750000	0.94351	0.655000	0.94253	GCT		0.443	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		A	61574420	C	A	61574420	3	1	413	1	0	0	0	0	1	0	0	0	2830	797	28	3	772	3	CCDC6	10	61574420	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	6005958	61574420	73960327	40	22601											
PKD2L1	9033	broad.mit.edu	37	10	102051059	102051059	+	Splice_Site	SNP	C	C	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr10:102051059C>G	ENST00000318222.3	-	12	2388	c.2006G>C	c.(2005-2007)aGg>aCg	p.R669T	PKD2L1_ENST00000338519.3_Splice_Site_p.R594T|PKD2L1_ENST00000353274.3_Splice_Site_p.R669T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	669					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.R669T(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCAGCTCACCCTCTCTTCCTC	0.517																																																1	Substitution - Missense(1)	ovary(1)	10											245	200	216					10																	102051059		2203	4300	6503	102041049	SO:0001630	splice_region_variant	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2007+1G>C	10.37:g.102051059C>G			102041049	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051354	0.36181	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.76709	-1.04;-1.04;-1.04	5.73	2.86	0.33363	.	0.130848	0.64402	D	0.000002	T	0.77665	0.4164	L	0.58428	1.81	0.36580	D	0.873497	P;B	0.52577	0.954;0.075	P;B	0.50136	0.632;0.066	T	0.80195	-0.1483	10	0.45353	T	0.12	-13.0524	10.6726	0.45768	0.0:0.7892:0.0:0.2108	.	622;669	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	T	594;669;669;667	ENSP00000345068:R594T;ENSP00000266049:R669T;ENSP00000325296:R669T	ENSP00000325296:R669T	R	-	2	0	PKD2L1	102041049	1.000000	0.71417	0.992000	0.48379	0.046000	0.14306	1.704000	0.37857	0.787000	0.33731	-0.150000	0.13652	AGG		0.517	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	Missense_Mutation	G	102051059	C	G	102051059	5	3	413	1	0	0	0	0	0	0	1	0	11967	695	24	3	431	3	PKD2L1	10	102051059	Splice_Site	SNP	C	TCGA-59-2352-01A-01W-0799-08	40476639	102051059	33483688	41	22602											
ADD3	120	broad.mit.edu	37	10	111879033	111879033	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr10:111879033C>T	ENST00000356080.4	+	7	1149	c.782C>T	c.(781-783)gCc>gTc	p.A261V	ADD3_ENST00000277900.8_Missense_Mutation_p.A261V|ADD3_ENST00000360162.3_Missense_Mutation_p.A261V	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	261						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A261V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GGAGATGTTGCCTATTATGAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											87	83	84					10																	111879033		2203	4300	6503	111869023	SO:0001583	missense	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.782C>T	10.37:g.111879033C>T	ENSP00000348381:p.Ala261Val		111869023	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617572	0.87359	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.23754	1.89;1.89;1.89	6.17	6.17	0.99709	Class II aldolase/adducin, N-terminal (3);	0.185816	0.56097	D	0.000023	T	0.53045	0.1772	M	0.80982	2.52	0.50467	D	0.999879	D;P	0.71674	0.998;0.889	D;P	0.76575	0.988;0.749	T	0.53450	-0.8437	10	0.62326	D	0.03	-7.7017	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	261;261	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	V	261	ENSP00000353286:A261V;ENSP00000348381:A261V;ENSP00000277900:A261V	ENSP00000277900:A261V	A	+	2	0	ADD3	111869023	0.998000	0.40836	0.990000	0.47175	0.976000	0.68499	2.599000	0.46231	2.941000	0.99782	0.655000	0.94253	GCC		0.423	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		T	111879033	C	T	111879033	3	4	413	1	0	0	0	0	1	0	0	0	306	739	26	2	804	2	ADD3	10	111879033	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	9827974	111879033	23655714	42	22603											
OR52A4	390053	broad.mit.edu	37	11	5141963	5141963	+	RNA	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr11:5141963G>C	ENST00000498233.1	-	0	1014							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V282V(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTAAAGACTGGACAAGGTGAT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	11											104	106	105					11																	5141963		2201	4298	6499	5098539			390053					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5141963G>C			5098539		Silent	SNP	ENST00000498233.1	37																																																																																					0.348	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		C	5141963	G	C	5141963	1	2	413	0	1	0	0	0	0	0	0	0	11109	1161	41	3		3	OR52A4	11	5141963	RNA	SNP	G	TCGA-59-2352-01A-01W-0799-08		5141963	129864553	43	22604											
RBM7	10179	broad.mit.edu	37	11	114273569	114273569	+	Silent	SNP	A	A	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr11:114273569A>G	ENST00000540163.1	+	3	921	c.279A>G	c.(277-279)caA>caG	p.Q93Q	RBM7_ENST00000541475.1_Silent_p.Q93Q|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.K90R|C11orf71_ENST00000325636.4_5'Flank|RBM7_ENST00000375490.5_Silent_p.Q93Q|RBM7_ENST00000545678.1_Intron|RBM7_ENST00000544582.1_Silent_p.Q93Q			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	93					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q93Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		ATGCCCCACAAGATGTCAGTT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	11											153	140	144					11																	114273569		2201	4296	6497	113778779	SO:0001819	synonymous_variant	10179			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"RNA binding motif (RRM) containing"	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.279A>G	11.37:g.114273569A>G			113778779	B2R6K8|Q9NUT4	Silent	SNP	ENST00000540163.1	37	CCDS8370.1																																																																																				0.343	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		G	114273569	A	G	114273569	2	3	413	1	0	0	0	0	0	0	0	1	13148	69	3	4		4	RBM7	11	114273569	Silent	SNP	A	TCGA-59-2352-01A-01W-0799-08	109131606	114273569	20732947	44	22605											
CDON	50937	broad.mit.edu	37	11	125875870	125875870	+	Silent	SNP	A	A	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr11:125875870A>C	ENST00000392693.3	-	9	1762	c.1635T>G	c.(1633-1635)ggT>ggG	p.G545G	CDON_ENST00000263577.7_Silent_p.G545G|CDON_ENST00000531738.1_5'Flank	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	545					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G545G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CAGTTTCTGAACCATCTCTCT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	11											93	80	84					11																	125875870		2201	4299	6500	125381080	SO:0001819	synonymous_variant	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1635T>G	11.37:g.125875870A>C			125381080	O14631	Silent	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	A	6.416	0.444789	0.12164	.	.	ENSG00000064309	ENST00000534661	.	.	.	6.03	-2.22	0.06952	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35351	-0.9792	4	.	.	.	-0.9926	8.075	0.30712	0.3936:0.1312:0.4751:0.0	.	.	.	.	V	521	.	.	F	-	1	0	CDON	125381080	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	0.573000	0.23699	-0.291000	0.09012	-0.290000	0.09829	TTC		0.478	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		C	125875870	A	C	125875870	2	2	413	1	0	0	0	0	0	0	0	1	3170	30	2	5		5	CDON	11	125875870	Silent	SNP	A	TCGA-59-2352-01A-01W-0799-08	11602301	125875870	9130646	45	22606											
IFLTD1	160492	broad.mit.edu	37	12	25672891	25672891	+	Missense_Mutation	SNP	C	C	G	rs540094880		TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr12:25672891C>G	ENST00000282881.6	-	6	1003	c.854G>C	c.(853-855)tGg>tCg	p.W285S	IFLTD1_ENST00000539744.1_Missense_Mutation_p.W188S|IFLTD1_ENST00000458174.2_Missense_Mutation_p.W306S|IFLTD1_ENST00000445693.1_Missense_Mutation_p.W222S|IFLTD1_ENST00000413632.2_Missense_Mutation_p.W266S	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		285					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)	p.W285L(1)|p.W285S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					AGATGCTGTCCACTGAAACAC	0.388																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	12											200	177	185					12																	25672891		2203	4300	6503	25564158	SO:0001583	missense	160492																														ENST00000282881.6:c.854G>C	12.37:g.25672891C>G	ENSP00000282881:p.Trp285Ser		25564158	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298314	0.40694	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000539523;ENST00000545543	T;T;T;T;T;T;T	0.26373	2.74;2.79;2.73;2.76;2.45;1.74;2.54	5.05	4.09	0.47781	.	.	.	.	.	T	0.27663	0.0680	L	0.29908	0.895	0.24216	N	0.995455	P;P;P;P	0.51933	0.949;0.949;0.949;0.915	P;P;P;P	0.56343	0.57;0.738;0.796;0.63	T	0.06991	-1.0796	9	0.20046	T	0.44	-16.4466	7.5685	0.27894	0.0:0.8834:0.0:0.1166	.	222;306;266;285	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	S	285;188;306;222;266;2;115	ENSP00000282881:W285S;ENSP00000443132:W188S;ENSP00000407353:W306S;ENSP00000407043:W222S;ENSP00000393150:W266S;ENSP00000438160:W2S;ENSP00000443596:W115S	ENSP00000282881:W285S	W	-	2	0	IFLTD1	25564158	0.000000	0.05858	0.725000	0.30721	0.015000	0.08874	0.369000	0.20416	2.641000	0.89580	0.585000	0.79938	TGG		0.388	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			G	25672891	C	G	25672891	3	3	413	1	0	0	0	0	1	0	0	0	7530	595	21	3	324	3	IFLTD1	12	25672891	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08		25672891	108179004	46	22607											
LRRK2	120892	broad.mit.edu	37	12	40704252	40704252	+	Missense_Mutation	SNP	C	C	T	rs74681492	byFrequency	TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr12:40704252C>T	ENST00000298910.7	+	31	4395	c.4337C>T	c.(4336-4338)cCt>cTt	p.P1446L		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1446	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.P1446L(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTTCTTCCCCTGTGATTCTC	0.473													C|||	5	0.000998403	0	0	5008	,	,		19032	0.005		0	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(2)	12											107	101	103					12																	40704252		2203	4300	6503	38990519	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4337C>T	12.37:g.40704252C>T	ENSP00000298910:p.Pro1446Leu		38990519	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	24.8	4.576007	0.86645	.	.	ENSG00000188906	ENST00000298910	T	0.77229	-1.08	5.63	5.63	0.86233	ROC GTPase (1);Small GTP-binding protein domain (1);Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.85234	0.5650	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87342	0.2332	10	0.72032	D	0.01	.	19.6788	0.95950	0.0:1.0:0.0:0.0	.	1446;1446	Q17RV3;Q5S007	.;LRRK2_HUMAN	L	1446	ENSP00000298910:P1446L	ENSP00000298910:P1446L	P	+	2	0	LRRK2	38990519	1.000000	0.71417	0.986000	0.45419	0.792000	0.44763	7.052000	0.76634	2.653000	0.90120	0.650000	0.86243	CCT		0.473	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		T	40704252	C	T	40704252	3	4	413	1	0	0	0	0	1	0	0	0	9033	681	24	2	4459	2	LRRK2	12	40704252	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	15031361	40704252	93147643	47	22608											
PTPRB	5801	broad.mit.edu	37	12	71029645	71029645	+	IGR	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr12:71029645C>T	ENST00000283228.2	-	0	3529				PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.R86H|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000551525.1_Missense_Mutation_p.R85H|PTPRB_ENST00000334414.6_Missense_Mutation_p.R86H	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R86H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTGGGAACAGCGGTCCAAGAT	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											56	56	56					12																	71029645		1978	4148	6126	69315912	SO:0001628	intergenic_variant	5787			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029645C>T			69315912	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	7.054	0.565022	0.13498	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.27256	1.68;1.68;1.68	6.04	-12.1	0.00011	.	.	.	.	.	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.36890	-0.9729	9	0.34782	T	0.22	.	9.1718	0.37086	0.1342:0.1217:0.5786:0.1655	.	86;85;86;86	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	H	86;86;86;85	ENSP00000334928:R86H;ENSP00000448058:R86H;ENSP00000448349:R85H	ENSP00000334928:R86H	R	-	2	0	PTPRB	69315912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.291000	0.02775	-3.698000	0.00119	-0.217000	0.12591	CGC		0.542	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		T	71029645	C	T	71029645	1	4	413	0	1	0	0	0	0	0	0	0	12799	768	27	1		1	PTPRB	12	71029645	IGR	SNP	C	TCGA-59-2352-01A-01W-0799-08	30325393	71029645	62822250	48	22609											
LIN7A	8825	broad.mit.edu	37	12	81205398	81205398	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr12:81205398T>C	ENST00000552864.1	-	5	750	c.548A>G	c.(547-549)aAg>aGg	p.K183R		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	183	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)	p.K183R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CACCACCAGCTTGACGCTGTC	0.483																																																1	Substitution - Missense(1)	ovary(1)	12											133	115	121					12																	81205398		2203	4300	6503	79729529	SO:0001583	missense	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.548A>G	12.37:g.81205398T>C	ENSP00000447488:p.Lys183Arg		79729529	A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660901	0.67700	.	.	ENSG00000111052	ENST00000552864	T	0.27720	1.65	5.13	5.13	0.70059	PDZ/DHR/GLGF (4);	0.090328	0.85682	D	0.000000	T	0.21347	0.0514	N	0.11698	0.16	0.80722	D	1	B	0.20052	0.041	B	0.25405	0.06	T	0.05178	-1.0901	10	0.52906	T	0.07	-14.2348	14.9425	0.71006	0.0:0.0:0.0:1.0	.	183	O14910	LIN7A_HUMAN	R	183	ENSP00000447488:K183R	ENSP00000447488:K183R	K	-	2	0	LIN7A	79729529	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.040000	0.89188	1.942000	0.56320	0.482000	0.46254	AAG		0.483	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			C	81205398	T	C	81205398	3	2	413	1	0	0	0	0	1	0	0	0	8810	1609	56	4	157	4	LIN7A	12	81205398	Missense_Mutation	SNP	T	TCGA-59-2352-01A-01W-0799-08	10175753	81205398	52646497	49	22610											
TMEM132B	114795	broad.mit.edu	37	12	126138808	126138808	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr12:126138808G>C	ENST00000299308.3	+	9	2797	c.2789G>C	c.(2788-2790)aGg>aCg	p.R930T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R442T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	930						integral component of membrane (GO:0016021)		p.R930M(1)|p.R930T(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGACACAAAAGGTTTGCTGTG	0.502																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	12											106	105	105					12																	126138808		2033	4202	6235	124704761	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2789G>C	12.37:g.126138808G>C	ENSP00000299308:p.Arg930Thr		124704761	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307786	0.60305	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.10668	3.64;2.85	5.54	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.12263	0.0298	L	0.56199	1.76	0.44201	D	0.99702	B	0.20052	0.041	B	0.14578	0.011	T	0.03148	-1.1067	10	0.44086	T	0.13	.	11.4873	0.50361	0.069:0.1263:0.8047:0.0	.	930	Q14DG7	T132B_HUMAN	T	930;442	ENSP00000299308:R930T;ENSP00000440436:R442T	ENSP00000299308:R930T	R	+	2	0	TMEM132B	124704761	1.000000	0.71417	0.935000	0.37517	0.986000	0.74619	5.874000	0.69652	1.314000	0.45095	0.655000	0.94253	AGG		0.502	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		C	126138808	G	C	126138808	3	2	413	1	0	0	0	0	1	0	0	0	16046	1000	35	3	2823	3	TMEM132B	12	126138808	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	44933410	126138808	7713087	50	22611											
ARHGAP5	394	broad.mit.edu	37	14	32562906	32562906	+	Silent	SNP	A	A	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr14:32562906A>C	ENST00000345122.3	+	2	3346	c.3031A>C	c.(3031-3033)Aga>Cga	p.R1011R	ARHGAP5_ENST00000539826.2_Silent_p.R1011R|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.R1011R|ARHGAP5_ENST00000556611.1_Silent_p.R1011R|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1011					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R1011R(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTCCAGATATAGATTAGATTT	0.428																																					NSCLC(9;77 350 3443 29227 41353)											1	Substitution - coding silent(1)	ovary(1)	14											115	112	113					14																	32562906		2203	4300	6503	31632657	SO:0001819	synonymous_variant	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3031A>C	14.37:g.32562906A>C			31632657	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	CCDS32062.1																																																																																				0.428	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		C	32562906	A	C	32562906	2	2	413	1	0	0	0	0	0	0	0	1	886	412	15	5		5	ARHGAP5	14	32562906	Silent	SNP	A	TCGA-59-2352-01A-01W-0799-08		32562906	74786634	51	22612											
CLEC14A	161198	broad.mit.edu	37	14	38724322	38724322	+	Silent	SNP	G	G	C	rs371729454		TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr14:38724322G>C	ENST00000342213.2	-	1	1252	c.906C>G	c.(904-906)ccC>ccG	p.P302P		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	302						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P302P(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGCGCCTGGTGGGCACCCCGG	0.662																																																1	Substitution - coding silent(1)	ovary(1)	14											42	47	46					14																	38724322		2202	4295	6497	37794073	SO:0001819	synonymous_variant	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.906C>G	14.37:g.38724322G>C			37794073	Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	CCDS9667.1																																																																																				0.662	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		C	38724322	G	C	38724322	2	2	413	1	0	0	0	0	0	0	0	1	3499	1335	47	3		3	CLEC14A	14	38724322	Silent	SNP	G	TCGA-59-2352-01A-01W-0799-08	6161416	38724322	68625218	52	22613											
MIA2	117153	broad.mit.edu	37	14	39722339	39722339	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr14:39722339T>A	ENST00000280082.3	+	6	2050	c.1851T>A	c.(1849-1851)aaT>aaA	p.N617K	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.N544K	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.N617K(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATTTCATGAATTCTGCATTTT	0.274																																																1	Substitution - Missense(1)	ovary(1)	14											79	86	84					14																	39722339		2201	4291	6492	38792090	SO:0001583	missense	117153			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1851T>A	14.37:g.39722339T>A	ENSP00000280082:p.Asn617Lys		38792090	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.700431	0.30142	.	.	ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000553728	T;T	0.52754	0.65;3.23	5.09	-1.78	0.07957	.	1.370910	0.05175	N	0.500184	T	0.25121	0.0610	.	.	.	0.21861	N	0.999502	B	0.06786	0.001	B	0.09377	0.004	T	0.08764	-1.0706	8	.	.	.	.	0.3062	0.00280	0.2654:0.2378:0.1369:0.3599	.	617	Q96PC5-2	.	K	617;544	ENSP00000280082:N617K;ENSP00000452252:N544K	.	N	+	3	2	MIA2;RP11-407N17.3	38792090	0.000000	0.05858	0.850000	0.33497	0.847000	0.48162	-0.196000	0.09532	-0.483000	0.06772	-0.334000	0.08254	AAT		0.274	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		A	39722339	T	A	39722339	3	1	413	1	0	0	0	0	1	0	0	0	9564	1490	52	5	1873	5	MIA2	14	39722339	Missense_Mutation	SNP	T	TCGA-59-2352-01A-01W-0799-08	998017	39722339	67627201	53	22614											
SLC10A1	6554	broad.mit.edu	37	14	70245211	70245211	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr14:70245211T>G	ENST00000216540.4	-	4	915	c.782A>C	c.(781-783)cAa>cCa	p.Q261P		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	261					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)	p.Q261P(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	TTGGACATTTTGGCATCCAGT	0.502																																																1	Substitution - Missense(1)	ovary(1)	14											156	127	137					14																	70245211		2203	4300	6503	69314964	SO:0001583	missense	6554			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"Solute carriers"	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.782A>C	14.37:g.70245211T>G	ENSP00000216540:p.Gln261Pro		69314964	B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890598	0.72524	.	.	ENSG00000100652	ENST00000216540	T	0.75477	-0.94	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.89996	0.6877	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.93110	0.6516	10	0.87932	D	0	-3.9152	14.5117	0.67791	0.0:0.0:0.0:1.0	.	261	Q14973	NTCP_HUMAN	P	261	ENSP00000216540:Q261P	ENSP00000216540:Q261P	Q	-	2	0	SLC10A1	69314964	1.000000	0.71417	0.999000	0.59377	0.682000	0.39822	7.732000	0.84908	2.020000	0.59435	0.459000	0.35465	CAA		0.502	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			G	70245211	T	G	70245211	3	3	413	1	0	0	0	0	1	0	0	0	14376	1812	63	5	275	5	SLC10A1	14	70245211	Missense_Mutation	SNP	T	TCGA-59-2352-01A-01W-0799-08	30522872	70245211	37104329	54	22615											
PPP1R13B	23368	broad.mit.edu	37	14	104219373	104219373	+	Silent	SNP	C	C	T	rs368023622		TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr14:104219373C>T	ENST00000202556.9	-	7	1074	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	264	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A264A(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACTCCACCGCCGCTGGTCCCG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	14						C		0,3676		0,0,1838	106	98	101		792	-11.5	0	14		101	1,8197		0,1,4098	no	coding-synonymous	PPP1R13B	NM_015316.2		0,1,5936	TT,TC,CC		0.0122,0.0,0.0084		264/1091	104219373	1,11873	1838	4099	5937	103289126	SO:0001819	synonymous_variant	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.792G>A	14.37:g.104219373C>T			103289126	B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	CCDS41997.1																																																																																				0.398	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		T	104219373	C	T	104219373	2	4	413	1	0	0	0	0	0	0	0	1	12360	639	23	1		1	PPP1R13B	14	104219373	Silent	SNP	C	TCGA-59-2352-01A-01W-0799-08	33974162	104219373	3130167	55	22616											
TP53BP1	7158	broad.mit.edu	37	15	43724582	43724582	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr15:43724582A>C	ENST00000263801.3	-	17	3722	c.3470T>G	c.(3469-3471)aTg>aGg	p.M1157R	TP53BP1_ENST00000382044.4_Missense_Mutation_p.M1162R|TP53BP1_ENST00000450115.2_Missense_Mutation_p.M1162R|TP53BP1_ENST00000382039.3_Missense_Mutation_p.M1162R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1157					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.M1157R(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGAACACTCCATGGTTTGGAT	0.458								Other conserved DNA damage response genes																																								1	Substitution - Missense(1)	ovary(1)	15											125	114	118					15																	43724582		2201	4298	6499	41511874	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3470T>G	15.37:g.43724582A>C	ENSP00000263801:p.Met1157Arg		41511874	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	A	7.644	0.681420	0.14907	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.03920	3.77;3.77;3.76;3.77	4.79	2.51	0.30379	.	0.802256	0.11660	N	0.541929	T	0.03477	0.0100	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.28971	0.229;0.105;0.168;0.168	B;B;B;B	0.28139	0.063;0.04;0.086;0.086	T	0.45279	-0.9272	10	0.21014	T	0.42	1.0777	3.406	0.07341	0.5473:0.2025:0.2502:0.0	.	1162;1157;1162;1162	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	R	1157;1162;1162;1162	ENSP00000263801:M1157R;ENSP00000371475:M1162R;ENSP00000371470:M1162R;ENSP00000393497:M1162R	ENSP00000263801:M1157R	M	-	2	0	TP53BP1	41511874	0.734000	0.28142	0.122000	0.21767	0.492000	0.33523	1.889000	0.39718	0.966000	0.38159	0.528000	0.53228	ATG		0.458	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			C	43724582	A	C	43724582	3	2	413	1	0	0	0	0	1	0	0	0	16383	217	8	5	2496	5	TP53BP1	15	43724582	Missense_Mutation	SNP	A	TCGA-59-2352-01A-01W-0799-08		43724582	58806810	56	22617											
TEKT5	146279	broad.mit.edu	37	16	10721464	10721464	+	Silent	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr16:10721464G>A	ENST00000283025.2	-	7	1505	c.1434C>T	c.(1432-1434)acC>acT	p.T478T	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	478						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.T478T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CCAGGCGCGGGGTGCAGGGGA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	16											63	62	62					16																	10721464		2197	4300	6497	10628965	SO:0001819	synonymous_variant	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1434C>T	16.37:g.10721464G>A			10628965	A1L3Z3	Silent	SNP	ENST00000283025.2	37	CCDS10542.1																																																																																				0.577	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		A	10721464	G	A	10721464	2	1	413	1	0	0	0	0	0	0	0	1	15756	1219	43	2		2	TEKT5	16	10721464	Silent	SNP	G	TCGA-59-2352-01A-01W-0799-08		10721464	79633289	57	22618											
LOC81691	81691	broad.mit.edu	37	16	20833199	20833199	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr16:20833199G>C	ENST00000261377.6	+	6	800	c.591G>C	c.(589-591)atG>atC	p.M197I	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.M197I|AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000348433.6_Missense_Mutation_p.M197I	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.M197I(1)									AGGAGGAAATGAGAACGTTTC	0.393																																																1	Substitution - Missense(1)	ovary(1)	16											115	107	110					16																	20833199		2201	4300	6501	20740700	SO:0001583	missense	81691																														ENST00000261377.6:c.591G>C	16.37:g.20833199G>C	ENSP00000261377:p.Met197Ile		20740700		Missense_Mutation	SNP	ENST00000261377.6	37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760173	0.89932	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.34275	1.37;1.75	5.27	5.27	0.74061	.	0.040960	0.85682	D	0.000000	T	0.50137	0.1598	M	0.63843	1.955	0.43628	D	0.996011	D;P	0.53745	0.962;0.692	P;B	0.53006	0.715;0.186	T	0.54050	-0.8351	10	0.87932	D	0	-22.4422	16.3781	0.83412	0.0:0.0:1.0:0.0	.	197;197	Q96IC2-2;Q96IC2	.;REXON_HUMAN	I	197	ENSP00000261378:M197I;ENSP00000261377:M197I	ENSP00000261377:M197I	M	+	3	0	AC004381.6	20740700	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.183000	0.72002	2.460000	0.83146	0.561000	0.74099	ATG		0.393	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			C	20833199	G	C	20833199	3	2	413	1	0	0	0	0	1	0	0	0	8890	1290	45	3	609	3	LOC81691	16	20833199	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	10111735	20833199	69521554	58	22619											
ZNF594	84622	broad.mit.edu	37	17	5086301	5086301	+	Silent	SNP	T	T	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr17:5086301T>A	ENST00000399604.4	-	1	1391	c.1251A>T	c.(1249-1251)tcA>tcT	p.S417S	ZNF594_ENST00000575779.1_Silent_p.S417S			Q96JF6	ZN594_HUMAN	zinc finger protein 594	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S417S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCAGAAGGTCTGAGCTCTGAT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	17											155	157	157					17																	5086301		2020	4205	6225	5027025	SO:0001819	synonymous_variant	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1251A>T	17.37:g.5086301T>A			5027025	Q6RFS0	Silent	SNP	ENST00000399604.4	37	CCDS42241.1																																																																																				0.413	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		A	5086301	T	A	5086301	2	1	413	1	0	0	0	0	0	0	0	1	18024	1567	55	5		5	ZNF594	17	5086301	Silent	SNP	T	TCGA-59-2352-01A-01W-0799-08		5086301	76108909	59	22620											
DLG4	1742	broad.mit.edu	37	17	7100125	7100125	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr17:7100125C>T	ENST00000399506.2	-	9	1225	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	DLG4_ENST00000302955.6_Missense_Mutation_p.G342D|DLG4_ENST00000399510.2_Missense_Mutation_p.G388D			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	345	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.G388D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GTCTGCAGGGCCCCCGGCCAG	0.657																																																1	Substitution - Missense(1)	ovary(1)	17											17	22	21					17																	7100125		2053	4215	6268	7040849	SO:0001583	missense	1742			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1034G>A	17.37:g.7100125C>T	ENSP00000382425:p.Gly345Asp		7040849	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37		.	.	.	.	.	.	.	.	.	.	C	28.6	4.934166	0.92458	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.57107	0.42;0.42;0.42	5.28	5.28	0.74379	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.79851	0.4517	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.97110	0.999;1.0;0.99;1.0	D	0.85380	0.1119	9	0.87932	D	0	.	16.4332	0.83860	0.0:1.0:0.0:0.0	.	385;345;342;388	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	D	345;342;388;388;285;388	ENSP00000382425:G345D;ENSP00000307471:G342D;ENSP00000382428:G388D	ENSP00000293813:G388D	G	-	2	0	DLG4	7040849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.481000	0.81124	2.455000	0.83008	0.655000	0.94253	GGC		0.657	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		T	7100125	C	T	7100125	3	4	413	1	0	0	0	0	1	0	0	0	4557	739	26	2	1188	2	DLG4	17	7100125	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	2013824	7100125	74095085	60	22621											
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	rs193920774		TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		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"	121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	17											50	44	46					17																	7577141		2203	4300	6503	7517866	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.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val		7517866	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577141	C	A	7577141	3	1	413	1	0	0	0	0	1	0	0	0	16381	855	30	3	489	3	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	477016	7577141	73618069	61	22622											
KRT25	147183	broad.mit.edu	37	17	38906696	38906696	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr17:38906696C>T	ENST00000312150.4	-	6	1171	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N		NM_181534.3	NP_853512.1			keratin 25									p.D371N(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGCTTGATGTCCAGGAGCTGC	0.527																																																1	Substitution - Missense(1)	ovary(1)	17											150	150	150					17																	38906696		2203	4300	6503	36160222	SO:0001583	missense	147183			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1111G>A	17.37:g.38906696C>T	ENSP00000310573:p.Asp371Asn		36160222		Missense_Mutation	SNP	ENST00000312150.4	37	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716041	0.48622	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.89810	-2.57	5.52	0.809	0.18725	Filament (1);	0.302373	0.28062	N	0.016749	T	0.80808	0.4694	L	0.27053	0.805	0.28621	N	0.90819	B	0.17038	0.02	B	0.27170	0.077	T	0.72097	-0.4393	10	0.51188	T	0.08	.	8.8692	0.35305	0.0:0.6719:0.1182:0.2098	.	371	Q7Z3Z0	K1C25_HUMAN	N	300;371	ENSP00000310573:D371N	ENSP00000310573:D371N	D	-	1	0	KRT25	36160222	1.000000	0.71417	0.876000	0.34364	0.901000	0.52897	3.067000	0.50010	0.274000	0.22072	-0.136000	0.14681	GAC		0.527	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		T	38906696	C	T	38906696	3	4	413	1	0	0	0	0	1	0	0	0	8462	855	30	2	253	2	KRT25	17	38906696	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	31329555	38906696	42288514	62	22623											
GOSR2	9570	broad.mit.edu	37	17	45012463	45012463	+	Silent	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr17:45012463C>T	ENST00000393456.2	+	5	462	c.405C>T	c.(403-405)aaC>aaT	p.N135N	GOSR2_ENST00000415811.2_Silent_p.N135N|GOSR2_ENST00000225567.4_Silent_p.N135N|GOSR2_ENST00000576910.2_Intron|RP11-156P1.2_ENST00000571841.1_Silent_p.N135N|GOSR2_ENST00000439730.2_Silent_p.N135N	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	135					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.N135N(1)		kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			AAGTTCACAACGGCATGGATG	0.483																																																1	Substitution - coding silent(1)	ovary(1)	17											158	142	148					17																	45012463		2203	4300	6503	42367462	SO:0001819	synonymous_variant	9570			AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.405C>T	17.37:g.45012463C>T			42367462	D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Silent	SNP	ENST00000393456.2	37	CCDS42355.1																																																																																				0.483	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			T	45012463	C	T	45012463	2	4	413	1	0	0	0	0	0	0	0	1	6578	535	19	1		1	GOSR2	17	45012463	Silent	SNP	C	TCGA-59-2352-01A-01W-0799-08	6105767	45012463	36182747	63	22624											
RTTN	25914	broad.mit.edu	37	18	67759398	67759398	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr18:67759398G>C	ENST00000255674.6	-	30	4377	c.4091C>G	c.(4090-4092)aCt>aGt	p.T1364S	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.T1364S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1364					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.T1364S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCCTTGTTGAGTAGGAATATG	0.393																																																1	Substitution - Missense(1)	ovary(1)	18											83	75	78					18																	67759398		1890	4111	6001	65910378	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4091C>G	18.37:g.67759398G>C	ENSP00000255674:p.Thr1364Ser		65910378	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.962798	0.00461	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.66099	-0.19;-0.19	5.08	1.14	0.20703	.	0.680915	0.14712	N	0.302916	T	0.44030	0.1274	L	0.36672	1.1	0.20403	N	0.999908	B	0.06786	0.001	B	0.06405	0.002	T	0.27839	-1.0062	10	0.06494	T	0.89	.	9.1353	0.36870	0.3089:0.0:0.6911:0.0	.	1364	Q86VV8	RTTN_HUMAN	S	1364	ENSP00000255674:T1364S;ENSP00000399520:T1364S	ENSP00000255674:T1364S	T	-	2	0	RTTN	65910378	0.059000	0.20769	0.000000	0.03702	0.121000	0.20230	1.877000	0.39598	0.233000	0.21120	-0.218000	0.12543	ACT		0.393	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		C	67759398	G	C	67759398	3	2	413	1	0	0	0	0	1	0	0	0	13740	1029	36	3	2669	3	RTTN	18	67759398	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08		67759398	10317850	64	22625											
COL5A3	50509	broad.mit.edu	37	19	10084882	10084882	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr19:10084882C>T	ENST00000264828.3	-	47	3554	c.3469G>A	c.(3469-3471)Gga>Aga	p.G1157R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1157	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G1157R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTTTCTCTCCCGGAGGGCCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	19											68	63	65					19																	10084882		2203	4300	6503	9945882	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3469G>A	19.37:g.10084882C>T	ENSP00000264828:p.Gly1157Arg		9945882	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568955	0.86439	.	.	ENSG00000080573	ENST00000264828	D	0.99429	-5.89	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	D	0.99687	0.9882	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97382	0.9983	10	0.87932	D	0	.	15.891	0.79299	0.0:1.0:0.0:0.0	.	1157	P25940	CO5A3_HUMAN	R	1157	ENSP00000264828:G1157R	ENSP00000264828:G1157R	G	-	1	0	COL5A3	9945882	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	6.798000	0.75155	2.332000	0.79248	0.491000	0.48974	GGA		0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10084882	C	T	10084882	3	4	413	1	0	0	0	0	1	0	0	0	3698	632	22	2	1852	2	COL5A3	19	10084882	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08		10084882	49044101	65	22626											
ZNF468	90333	broad.mit.edu	37	19	53344346	53344346	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr19:53344346G>C	ENST00000595646.1	-	4	1321	c.1201C>G	c.(1201-1203)Cat>Gat	p.H401D	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.H348D|ZNF468_ENST00000396409.4_Missense_Mutation_p.H348D|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H401D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATCCTCCTATGTCTTTCAAGG	0.403																																																1	Substitution - Missense(1)	ovary(1)	19											104	104	104					19																	53344346		2203	4300	6503	58036158	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1201C>G	19.37:g.53344346G>C	ENSP00000470381:p.His401Asp		58036158	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	15.58	2.874292	0.51695	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	D;D	0.86769	-2.17;-2.17	1.88	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94883	0.8346	H	0.95982	3.75	0.31669	N	0.644599	D	0.89917	1.0	D	0.91635	0.999	D	0.92822	0.6273	9	0.87932	D	0	.	10.8024	0.46495	0.0:0.0:1.0:0.0	.	401	Q5VIY5	ZN468_HUMAN	D	401;348;348;151	ENSP00000379690:H348D;ENSP00000445669:H348D	ENSP00000243639:H401D	H	-	1	0	ZNF468	58036158	1.000000	0.71417	0.006000	0.13384	0.040000	0.13550	5.905000	0.69893	1.043000	0.40175	0.409000	0.27619	CAT		0.403	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		C	53344346	G	C	53344346	3	2	413	1	0	0	0	0	1	0	0	0	17928	1377	48	3	371	3	ZNF468	19	53344346	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	43259464	53344346	5784637	66	22627											
ZNF321	399669	broad.mit.edu	37	19	53432565	53432565	+	Missense_Mutation	SNP	A	A	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr19:53432565A>T	ENST00000391777.3	-	4	414	c.293T>A	c.(292-294)aTt>aAt	p.I98N	ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000549216.1_Missense_Mutation_p.I29N|ZNF816_ENST00000434371.2_Missense_Mutation_p.I98N			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene	29								p.I29N(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						AAAATCTCTAATGTGATGACT	0.413																																																1	Substitution - Missense(1)	ovary(1)	19											132	140	137					19																	53432565		2203	4300	6503	58124377	SO:0001583	missense	399669			AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"zinc finger protein 321"	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.293T>A	19.37:g.53432565A>T	ENSP00000375656:p.Ile98Asn		58124377	B7ZB38|Q68DZ0|Q86SS5	Missense_Mutation	SNP	ENST00000391777.3	37	CCDS56101.1	.	.	.	.	.	.	.	.	.	.	a	5.687	0.311287	0.10789	.	.	ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000549216;ENST00000434371;ENST00000391777	T;T;T	0.02446	4.29;5.63;5.63	1.23	0.157	0.14915	.	.	.	.	.	T	0.02929	0.0087	L	0.38838	1.175	0.09310	N	1	B	0.23058	0.079	B	0.29176	0.099	T	0.44345	-0.9334	9	0.54805	T	0.06	.	4.5594	0.12152	0.7934:0.0:0.2066:0.0	.	29	Q8N8H1	ZN321_HUMAN	N	29;98;98	ENSP00000449832:I29N;ENSP00000438519:I98N;ENSP00000375656:I98N	ENSP00000375656:I98N	I	-	2	0	ZNF321P;ZNF816	58124377	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.209000	0.17435	0.010000	0.14839	0.113000	0.15668	ATT		0.413	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000396130.1	NR_037805		T	53432565	A	T	53432565	3	4	413	1	0	0	0	0	1	0	0	0	17840	101	4	5	412	5	ZNF321	19	53432565	Missense_Mutation	SNP	A	TCGA-59-2352-01A-01W-0799-08	88219	53432565	5696418	67	22628											
NCAM2	4685	broad.mit.edu	37	21	22656721	22656721	+	Splice_Site	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr21:22656721G>A	ENST00000400546.1	+	3	586		c.e3+1		NCAM2_ENST00000535285.1_Splice_Site|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_Splice_Site	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2						axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAAATTTACCGTAAGTAATGT	0.294																																																1	Unknown(1)	ovary(1)	21											41	39	40					21																	22656721		1821	4076	5897	21578592	SO:0001630	splice_region_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.337+1G>A	21.37:g.22656721G>A			21578592	A8MQ06|B7Z841|Q7Z7F2	Splice_Site	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876114	0.72180	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.134	0.89612	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAM2	21578592	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.804000	0.91921	2.632000	0.89209	0.591000	0.81541	.		0.294	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	Intron	A	22656721	G	A	22656721	5	1	413	1	0	0	0	0	0	0	1	0	10203	1159	40	1	348	1	NCAM2	21	22656721	Splice_Site	SNP	G	TCGA-59-2352-01A-01W-0799-08		22656721	25473174	68	22629											
SLC5A3	6526	broad.mit.edu	37	21	35469095	35469095	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr21:35469095C>A	ENST00000381151.3	+	2	2110	c.1598C>A	c.(1597-1599)aCa>aAa	p.T533K	SLC5A3_ENST00000608209.1_Missense_Mutation_p.T533K|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	533					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)	p.T533K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AGCCTTCTCACACCACCTCCC	0.468																																																1	Substitution - Missense(1)	ovary(1)	21											80	69	73					21																	35469095		2203	4300	6503	34390965	SO:0001583	missense	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1598C>A	21.37:g.35469095C>A	ENSP00000370543:p.Thr533Lys		34390965	O43489	Missense_Mutation	SNP	ENST00000381151.3	37	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695770	0.68386	.	.	ENSG00000198743	ENST00000381151	T	0.66099	-0.19	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.80422	2.495	0.54753	D	0.999987	D	0.71674	0.998	D	0.70935	0.971	T	0.82544	-0.0404	10	0.87932	D	0	.	18.8323	0.92145	0.0:1.0:0.0:0.0	.	533	P53794	SC5A3_HUMAN	K	533	ENSP00000370543:T533K	ENSP00000370543:T533K	T	+	2	0	SLC5A3	34390965	1.000000	0.71417	0.965000	0.40720	0.951000	0.60555	7.461000	0.80834	2.755000	0.94549	0.655000	0.94253	ACA		0.468	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			A	35469095	C	A	35469095	3	1	413	1	0	0	0	0	1	0	0	0	14669	478	17	3	1600	3	SLC5A3	21	35469095	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	12812374	35469095	12660800	69	22630											
TNRC6B	23112	broad.mit.edu	37	22	40661483	40661483	+	Missense_Mutation	SNP	C	C	G	rs201621003		TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr22:40661483C>G	ENST00000454349.2	+	5	1460	c.1249C>G	c.(1249-1251)Cga>Gga	p.R417G	TNRC6B_ENST00000335727.9_Missense_Mutation_p.R417G|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	417	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R431G(1)		breast(1)	1						CACTGGAGATCGAAAGACTGG	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		18342	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	22						C	,GLY/ARG,GLY/ARG	4,3796		0,4,1896	63	62	62		,1249,1249	4.5	1	22		62	0,8234		0,0,4117	yes	intron,missense,missense	TNRC6B	NM_001024843.1,NM_001162501.1,NM_015088.2	,125,125	0,4,6013	GG,GC,CC		0.0,0.1053,0.0332	,probably-damaging,probably-damaging	,417/1834,417/1724	40661483	4,12030	1900	4117	6017	38991429	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1249C>G	22.37:g.40661483C>G	ENSP00000401946:p.Arg417Gly		38991429	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.190|5.190	0.220633|0.220633	0.09863|0.09863	0.001053|0.001053	0.0|0.0	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|T;T	.|0.55052	.|0.54;0.54	5.52|5.52	4.47|4.47	0.54385|0.54385	.|.	.|0.187300	.|0.46758	.|D	.|0.000261	T|T	0.34890|0.34890	0.0913|0.0913	N|N	0.22421|0.22421	0.69|0.69	0.33162|0.33162	D|D	0.547167|0.547167	.|P;B;B	.|0.44090	.|0.826;0.005;0.008	.|B;B;B	.|0.40602	.|0.334;0.002;0.004	T|T	0.37337|0.37337	-0.9710|-0.9710	5|10	.|0.13853	.|T	.|0.58	-3.9835|-3.9835	11.0688|11.0688	0.47991|0.47991	0.4107:0.5893:0.0:0.0|0.4107:0.5893:0.0:0.0	.|.	.|417;417;417	.|Q9UPQ9;A8MYY3;Q9UPQ9-1	.|TNR6B_HUMAN;.;.	M|G	159|417	.|ENSP00000401946:R417G;ENSP00000338371:R417G	.|ENSP00000338371:R417G	I|R	+|+	3|1	3|2	TNRC6B|TNRC6B	38991429|38991429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.535000|1.535000	0.36061|0.36061	2.601000|2.601000	0.87937|0.87937	0.650000|0.650000	0.86243|0.86243	ATC|CGA		0.517	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				G	40661483	C	G	40661483	3	3	413	1	0	0	0	0	1	0	0	0	16341	876	31	3	1388	3	TNRC6B	22	40661483	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08		40661483	10643083	70	22631											
ACO2	50	broad.mit.edu	37	22	41922335	41922335	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chr22:41922335G>A	ENST00000216254.4	+	15	1853	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	ACO2_ENST00000396512.3_Missense_Mutation_p.D636N|POLR3H_ENST00000396504.2_3'UTR|POLR3H_ENST00000355209.4_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	611					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.D611N(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGGGCACTTGGATAACATCTC	0.552											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	22											136	114	121					22																	41922335		2203	4300	6503	40252281	SO:0001583	missense	50			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"aconitate hydratase, mitochondrial"	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1831G>A	22.37:g.41922335G>A	ENSP00000216254:p.Asp611Asn	904	40252281	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844261	0.91197	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.44482	0.92;0.92	5.51	5.51	0.81932	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.087842	0.85682	D	0.000000	T	0.60130	0.2245	M	0.83852	2.665	0.80722	D	1	P;B	0.36712	0.566;0.371	P;B	0.46208	0.507;0.242	T	0.64597	-0.6370	10	0.87932	D	0	.	17.9747	0.89123	0.0:0.0:1.0:0.0	.	636;611	A2A274;Q99798	.;ACON_HUMAN	N	332;592;611;636	ENSP00000216254:D611N;ENSP00000379769:D636N	ENSP00000216254:D611N	D	+	1	0	ACO2	40252281	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.746000	0.94184	0.591000	0.81541	GAT		0.552	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		A	41922335	G	A	41922335	3	1	413	1	0	0	0	0	1	0	0	0	147	1174	41	2	1889	2	ACO2	22	41922335	Missense_Mutation	SNP	G	TCGA-59-2352-01A-01W-0799-08	1260852	41922335	9382231	71	22632											
KIAA2022	340533	broad.mit.edu	37	X	73960335	73960335	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chrX:73960335T>C	ENST00000055682.6	-	3	4668	c.4057A>G	c.(4057-4059)Ata>Gta	p.I1353V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1353					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.I1353V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAGTAGAATATGTTGGGATCC	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											68	63	65					X																	73960335		2203	4300	6503	73877060	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4057A>G	X.37:g.73960335T>C	ENSP00000055682:p.Ile1353Val		73877060	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	2.261	-0.369213	0.05069	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.29917	1.55;1.55	5.55	1.84	0.25277	.	0.534254	0.21838	N	0.068374	T	0.16938	0.0407	L	0.27053	0.805	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.23297	-1.0192	10	0.22109	T	0.4	0.0104	5.5779	0.17233	0.0:0.2189:0.1312:0.6498	.	1353	Q5QGS0	K2022_HUMAN	V	1353	ENSP00000362567:I1353V;ENSP00000055682:I1353V	ENSP00000055682:I1353V	I	-	1	0	KIAA2022	73877060	0.959000	0.32827	0.013000	0.15412	0.668000	0.39293	0.877000	0.28106	-0.018000	0.14079	0.441000	0.28932	ATA		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		C	73960335	T	C	73960335	3	2	413	1	0	0	0	0	1	0	0	0	8269	1464	51	4	501	4	KIAA2022	23	73960335	Missense_Mutation	SNP	T	TCGA-59-2352-01A-01W-0799-08		73960335	81310225	72	22633											
OCRL	4952	broad.mit.edu	37	X	128724128	128724128	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2352-01A-01W-0799-08	TCGA-59-2352-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	d7107990-0f77-4440-b760-a19d4a920c04	13642839-4dc8-4f6f-b472-4e758fed1df5	g.chrX:128724128C>T	ENST00000371113.4	+	24	2752	c.2587C>T	c.(2587-2589)Ctc>Ttc	p.L863F	OCRL_ENST00000357121.5_Missense_Mutation_p.L855F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	863	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.L863F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGTAGCTACTCTCTTCACTAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											208	191	196					X																	128724128		2203	4300	6503	128551809	SO:0001583	missense	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2587C>T	X.37:g.128724128C>T	ENSP00000360154:p.Leu863Phe		128551809	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494353	0.64186	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.19669	2.13;2.13	5.5	5.5	0.81552	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.41696	0.1170	M	0.74881	2.28	0.52099	D	0.999943	D;D	0.67145	0.996;0.99	P;D	0.65573	0.9;0.936	T	0.37267	-0.9713	10	0.72032	D	0.01	.	8.5602	0.33505	0.0:0.7642:0.1509:0.0849	.	855;863	Q01968-2;Q01968	.;OCRL_HUMAN	F	863;855	ENSP00000360154:L863F;ENSP00000349635:L855F	ENSP00000349635:L855F	L	+	1	0	OCRL	128551809	0.989000	0.36119	1.000000	0.80357	0.986000	0.74619	2.703000	0.47110	2.305000	0.77605	0.600000	0.82982	CTC		0.512	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		T	128724128	C	T	128724128	3	4	413	1	0	0	0	0	1	0	0	0	10823	913	32	2	2681	2	OCRL	23	128724128	Missense_Mutation	SNP	C	TCGA-59-2352-01A-01W-0799-08	54763793	128724128	26546432	73	22634											
TMCO2	127391	broad.mit.edu	37	1	40717246	40717246	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr1:40717246G>C	ENST00000372766.3	+	2	622	c.529G>C	c.(529-531)Ggg>Cgg	p.G177R	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	177						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G177R(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GTCCACATCAGGGTTTACTTC	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											62	64	63					1																	40717246		2203	4300	6503	40489833	SO:0001583	missense	127391			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.529G>C	1.37:g.40717246G>C	ENSP00000361852:p.Gly177Arg		40489833		Missense_Mutation	SNP	ENST00000372766.3	37	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079868	0.76528	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000034	T	0.57021	0.2025	L	0.29908	0.895	0.36837	D	0.887185	D	0.59767	0.986	P	0.60173	0.87	T	0.64980	-0.6279	9	0.66056	D	0.02	-8.2827	13.7095	0.62659	0.0:0.0:1.0:0.0	.	177	Q7Z6W1	TMCO2_HUMAN	R	177	.	ENSP00000361852:G177R	G	+	1	0	TMCO2	40489833	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.773000	0.47686	2.615000	0.88500	0.585000	0.79938	GGG		0.478	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		C	40717246	G	C	40717246	3	2	414	1	0	0	0	0	1	0	0	0	15996	1000	35	3	535	3	TMCO2	1	40717246	Missense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08		40717246	208533375	1	22635											
OSBPL9	114883	broad.mit.edu	37	1	52179728	52179728	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr1:52179728C>A	ENST00000428468.1	+	4	297	c.295C>A	c.(295-297)Ctt>Att	p.L99I	OSBPL9_ENST00000453295.1_Missense_Mutation_p.L82I|OSBPL9_ENST00000447887.1_Missense_Mutation_p.L99I|OSBPL9_ENST00000371710.3_Missense_Mutation_p.L117I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.L99I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.L117I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.L31I|OSBPL9_ENST00000435686.2_5'UTR			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	99	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.L99I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AGAAACAATTCTTCGACATAC	0.328																																																1	Substitution - Missense(1)	ovary(1)	1											88	84	85					1																	52179728		1849	4096	5945	51952316	SO:0001583	missense	114883			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.295C>A	1.37:g.52179728C>A	ENSP00000407168:p.Leu99Ile		51952316	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468202	0.84533	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468;ENST00000453295;ENST00000530544	T;T;T;T;T	0.15718	2.41;2.62;2.63;2.48;2.4	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.78801	2.425	0.80722	D	1	P;D;P;P	0.89917	0.629;1.0;0.946;0.775	B;D;P;P	0.85130	0.134;0.997;0.476;0.497	T	0.15009	-1.0452	10	0.52906	T	0.07	-16.659	12.465	0.55753	0.0:0.9222:0.0:0.0778	.	82;105;99;117	Q86YQ3;B1AKJ7;Q96SU4;B1AKJ6	.;.;OSBL9_HUMAN;.	I	99;117;117;99;99;82;31	ENSP00000360779:L99I;ENSP00000360775:L117I;ENSP00000337265:L117I;ENSP00000412733:L99I;ENSP00000407168:L99I	ENSP00000337265:L117I	L	+	1	0	OSBPL9	51952316	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.962000	0.56766	2.890000	0.99128	0.650000	0.86243	CTT		0.328	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			A	52179728	C	A	52179728	3	1	414	1	0	0	0	0	1	0	0	0	11284	913	32	3	309	3	OSBPL9	1	52179728	Missense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08	11462482	52179728	197070893	2	22636											
EPS8L3	79574	broad.mit.edu	37	1	110302310	110302310	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr1:110302310A>G	ENST00000361965.4	-	4	351	c.245T>C	c.(244-246)aTt>aCt	p.I82T	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.I82T|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Missense_Mutation_p.I82T	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	82						cytoplasm (GO:0005737)		p.I82T(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTTGGTCTCAATGTCCAGCAG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											56	48	51					1																	110302310		2203	4300	6503	110103833	SO:0001583	missense	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.245T>C	1.37:g.110302310A>G	ENSP00000355255:p.Ile82Thr		110103833	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.657183	0.67586	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.30981	1.51;1.51;1.51	5.24	5.24	0.73138	Tensin phosphotyrosine-binding domain (1);	0.250242	0.45867	D	0.000332	T	0.43545	0.1252	M	0.77103	2.36	0.44462	D	0.997392	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.37798	-0.9690	10	0.22706	T	0.39	-17.0778	12.9503	0.58397	1.0:0.0:0.0:0.0	.	82;82;82	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	T	82	ENSP00000354551:I82T;ENSP00000358820:I82T;ENSP00000355255:I82T	ENSP00000354551:I82T	I	-	2	0	EPS8L3	110103833	1.000000	0.71417	0.950000	0.38849	0.976000	0.68499	6.551000	0.73909	2.107000	0.64212	0.533000	0.62120	ATT		0.592	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		G	110302310	A	G	110302310	3	3	414	1	0	0	0	0	1	0	0	0	5197	101	4	4	1603	4	EPS8L3	1	110302310	Missense_Mutation	SNP	A	TCGA-59-2354-01A-01W-0799-08	58122582	110302310	138948311	3	22637											
SLC26A9	115019	broad.mit.edu	37	1	205904883	205904883	+	Missense_Mutation	SNP	A	A	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr1:205904883A>T	ENST00000367135.3	-	2	179	c.66T>A	c.(64-66)gaT>gaA	p.D22E	SLC26A9_ENST00000367134.2_Missense_Mutation_p.D22E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.D22E|RP4-681L3.2_ENST00000421166.1_RNA	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	22					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.D22E(1)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCTCAAACTCATCGTCGAAGA	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											210	186	194					1																	205904883		2203	4300	6503	204171506	SO:0001583	missense	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.66T>A	1.37:g.205904883A>T	ENSP00000356103:p.Asp22Glu		204171506	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.349180	0.41599	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.91464	-2.85;-2.81;-2.85	5.21	-6.03	0.02185	.	0.344623	0.29178	N	0.012903	T	0.56891	0.2016	N	0.00525	-1.395	0.29174	N	0.876926	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.68250	-0.5458	10	0.02654	T	1	.	4.8146	0.13360	0.1494:0.5362:0.1498:0.1646	.	22;22	Q7LBE3;B1AVM8	S26A9_HUMAN;.	E	22	ENSP00000341682:D22E;ENSP00000356103:D22E;ENSP00000356102:D22E	ENSP00000341682:D22E	D	-	3	2	SLC26A9	204171506	0.039000	0.19947	0.971000	0.41717	0.994000	0.84299	-1.059000	0.03479	-0.648000	0.05437	0.533000	0.62120	GAT		0.557	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		T	205904883	A	T	205904883	3	4	414	1	0	0	0	0	1	0	0	0	14527	214	8	5	2685	5	SLC26A9	1	205904883	Missense_Mutation	SNP	A	TCGA-59-2354-01A-01W-0799-08	95602573	205904883	43345738	4	22638											
HLX	3142	broad.mit.edu	37	1	221053253	221053253	+	Silent	SNP	G	G	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr1:221053253G>T	ENST00000366903.6	+	1	1555	c.54G>T	c.(52-54)tcG>tcT	p.S18S	HLX_ENST00000549319.1_5'Flank|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	18					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S18S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCCTCTGGTCGGCCGCTTACT	0.687																																																1	Substitution - coding silent(1)	ovary(1)	1											7	9	8					1																	221053253		2141	4213	6354	219119876	SO:0001819	synonymous_variant	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.54G>T	1.37:g.221053253G>T			219119876	B2R8A8|Q15988|Q59HE7|Q9NZ75	Silent	SNP	ENST00000366903.6	37	CCDS1527.1																																																																																				0.687	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		T	221053253	G	T	221053253	2	4	414	1	0	0	0	0	0	0	0	1	7216	1103	39	3		3	HLX	1	221053253	Silent	SNP	G	TCGA-59-2354-01A-01W-0799-08	15148370	221053253	28197368	5	22639											
PRKCE	5581	broad.mit.edu	37	2	46228562	46228562	+	Silent	SNP	C	C	T	rs576600856		TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr2:46228562C>T	ENST00000306156.3	+	7	1170	c.843C>T	c.(841-843)caC>caT	p.H281H	PRKCE_ENST00000394874.1_Silent_p.H4H	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	281					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.H281H(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TGAATGTTCACCGTCGATGTG	0.463																																																1	Substitution - coding silent(1)	ovary(1)	2											130	125	127					2																	46228562		1840	3768	5608	46082066	SO:0001819	synonymous_variant	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.843C>T	2.37:g.46228562C>T			46082066	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	37	CCDS1824.1																																																																																				0.463	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			T	46228562	C	T	46228562	2	4	414	1	0	0	0	0	0	0	0	1	12514	506	18	2		2	PRKCE	2	46228562	Silent	SNP	C	TCGA-59-2354-01A-01W-0799-08		46228562	196970811	6	22640											
VWA3B	200403	broad.mit.edu	37	2	98920176	98920176	+	Silent	SNP	T	T	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr2:98920176T>A	ENST00000477737.1	+	26	3636	c.3432T>A	c.(3430-3432)ccT>ccA	p.P1144P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1144								p.P1144P(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AATTTTGCCCTCGGAGTGCAC	0.378																																																1	Substitution - coding silent(1)	ovary(1)	2											124	107	112					2																	98920176		1855	4093	5948	98286608	SO:0001819	synonymous_variant	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3432T>A	2.37:g.98920176T>A			98286608	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	8.571	0.880158	0.17467	.	.	ENSG00000168658	ENST00000473149	.	.	.	4.47	-2.38	0.06622	.	.	.	.	.	T	0.36635	0.0974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32771	-0.9894	4	.	.	.	.	0.1078	0.00054	0.3134:0.1862:0.1617:0.3386	.	.	.	.	T	555	.	.	S	+	1	0	VWA3B	98286608	0.996000	0.38824	0.994000	0.49952	0.826000	0.46750	0.071000	0.14594	-0.254000	0.09500	-0.344000	0.07964	TCG		0.378	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		A	98920176	T	A	98920176	2	1	414	1	0	0	0	0	0	0	0	1	17241	1538	54	5		5	VWA3B	2	98920176	Silent	SNP	T	TCGA-59-2354-01A-01W-0799-08	52691614	98920176	144279197	7	22641											
TTN	7273	broad.mit.edu	37	2	179399085	179399085	+	Missense_Mutation	SNP	C	C	G	rs569650065		TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr2:179399085C>G	ENST00000591111.1	-	308	97558	c.97334G>C	c.(97333-97335)aGa>aCa	p.R32445T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25213T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34086T|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31518T|TTN_ENST00000359218.5_Missense_Mutation_p.R25146T|TTN_ENST00000460472.2_Missense_Mutation_p.R25021T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32445					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R31516T(2)|p.R25021T(2)|p.R25213T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTAATGTTCTGATAACTTT	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		21421	0		0	False		,,,				2504	0															5	Substitution - Missense(5)	NS(3)|ovary(2)	2											134	129	130					2																	179399085		1914	4137	6051	179107331	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97334G>C	2.37:g.179399085C>G	ENSP00000465570:p.Arg32445Thr		179107331	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.08	1.251770	0.22880	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.78	5.78	0.91487	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.21674	0.0522	N	0.08118	0	0.30163	N	0.802015	P;P;P;P	0.35155	0.487;0.487;0.487;0.487	B;B;B;B	0.27380	0.079;0.079;0.079;0.079	T	0.10382	-1.0632	9	0.87932	D	0	.	8.9717	0.35910	0.0:0.8425:0.0:0.1575	.	25021;25146;25213;32445	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	31518;25021;25213;25146;25018	ENSP00000343764:R31518T;ENSP00000434586:R25021T;ENSP00000340554:R25213T;ENSP00000352154:R25146T	ENSP00000340554:R25213T	R	-	2	0	TTN	179107331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.210000	0.51129	2.741000	0.93983	0.555000	0.69702	AGA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179399085	C	G	179399085	3	3	414	1	0	0	0	0	1	0	0	0	16735	913	32	3	5742	3	TTN	2	179399085	Missense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08	80478909	179399085	63800288	8	22642											
ACAD11	84129	broad.mit.edu	37	3	132363656	132363656	+	Silent	SNP	A	A	G			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr3:132363656A>G	ENST00000264990.6	-	2	1205	c.234T>C	c.(232-234)ctT>ctC	p.L78L	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Silent_p.L78L|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Silent_p.L78L	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	78					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.L78L(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GTGCTTTAGGAAGAAGTGAAC	0.338																																																1	Substitution - coding silent(1)	ovary(1)	3											94	98	96					3																	132363656		2203	4300	6503	133846346	SO:0001819	synonymous_variant	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.234T>C	3.37:g.132363656A>G			133846346	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	37	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	A	9.099	1.003591	0.19121	.	.	ENSG00000113971	ENST00000393144	.	.	.	6.16	3.76	0.43208	.	.	.	.	.	T	0.56366	0.1980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56019	-0.8048	5	0.56958	D	0.05	.	2.4117	0.04426	0.6104:0.1225:0.136:0.1312	.	.	.	.	P	637	.	ENSP00000376852:S637P	S	-	1	0	NPHP3	133846346	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.436000	0.21526	0.549000	0.28973	0.528000	0.53228	TCC		0.338	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		G	132363656	A	G	132363656	2	3	414	1	0	0	0	0	0	0	0	1	109	233	9	4		4	ACAD11	3	132363656	Silent	SNP	A	TCGA-59-2354-01A-01W-0799-08		132363656	65658774	9	22643											
KY	339855	broad.mit.edu	37	3	134339676	134339676	+	Silent	SNP	G	G	A	rs374650727	byFrequency	TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr3:134339676G>A	ENST00000423778.2	-	7	568	c.507C>T	c.(505-507)gaC>gaT	p.D169D	KY_ENST00000508956.1_Silent_p.D148D|KY_ENST00000503669.1_Silent_p.D169D|KY_ENST00000508041.1_5'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	169					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.D169D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TCACCAGTTCGTCTAGGCCAC	0.617													G|||	2	0.000399361	0	0	5008	,	,		18809	0.002		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	3						G		1,4031		0,1,2015	49	56	54		507	-9.3	0.2	3		54	0,8386		0,0,4193	no	coding-synonymous	KY	NM_178554.4		0,1,6208	AA,AG,GG		0.0,0.0248,0.0081		169/662	134339676	1,12417	2016	4193	6209	135822366	SO:0001819	synonymous_variant	339855			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.507C>T	3.37:g.134339676G>A			135822366	B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	CCDS46920.1																																																																																				0.617	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		A	134339676	G	A	134339676	2	1	414	1	0	0	0	0	0	0	0	1	8586	1136	40	1		1	KY	3	134339676	Silent	SNP	G	TCGA-59-2354-01A-01W-0799-08	1976020	134339676	63682754	10	22644											
KCNAB1	7881	broad.mit.edu	37	3	156232199	156232199	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr3:156232199G>A	ENST00000490337.1	+	9	769	c.705G>A	c.(703-705)atG>atA	p.M235I	KCNAB1_ENST00000302490.8_Missense_Mutation_p.M217I|KCNAB1_ENST00000471742.1_Missense_Mutation_p.M224I|KCNAB1_ENST00000389636.5_Missense_Mutation_p.M206I|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.M188I	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	235					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.M217I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCATGGCGATGTACTGGGGCA	0.393																																																1	Substitution - Missense(1)	ovary(1)	3											193	186	189					3																	156232199		2203	4300	6503	157714893	SO:0001583	missense	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.705G>A	3.37:g.156232199G>A	ENSP00000419952:p.Met235Ile		157714893	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	35	5.479300	0.96307	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T;T	0.40756	1.02;1.86;1.86;1.86;1.86;1.86	5.49	5.49	0.81192	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.63428	1.95	0.80722	D	1	P;P;P;P;P	0.48016	0.904;0.824;0.882;0.776;0.812	P;P;P;P;P	0.56127	0.792;0.767;0.749;0.591;0.714	T	0.59947	-0.7358	10	0.62326	D	0.03	-3.8552	18.1683	0.89736	0.0:0.0:1.0:0.0	.	206;188;217;224;235	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	I	124;235;206;224;217;188	ENSP00000420755:M124I;ENSP00000419952:M235I;ENSP00000374287:M206I;ENSP00000418956:M224I;ENSP00000305858:M217I;ENSP00000374285:M188I	ENSP00000305858:M217I	M	+	3	0	KCNAB1	157714893	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.392000	0.97252	2.565000	0.86533	0.655000	0.94253	ATG		0.393	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		A	156232199	G	A	156232199	3	1	414	1	0	0	0	0	1	0	0	0	8009	1377	48	2	1210	2	KCNAB1	3	156232199	Missense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08	21892523	156232199	41790231	11	22645											
ANKRD17	26057	broad.mit.edu	37	4	74019693	74019693	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr4:74019693C>T	ENST00000358602.4	-	6	1254	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	ANKRD17_ENST00000330838.6_Missense_Mutation_p.V380M|ANKRD17_ENST00000514252.1_5'Flank|ANKRD17_ENST00000509867.2_Missense_Mutation_p.V267M	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	380					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V380M(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTACTTCCACATGTCCAGCA	0.428																																																1	Substitution - Missense(1)	ovary(1)	4											139	129	133					4																	74019693		2203	4300	6503	74238557	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1138G>A	4.37:g.74019693C>T	ENSP00000351416:p.Val380Met		74238557	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803635	0.90623	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.65364	-0.15;-0.15;-0.15	4.95	4.95	0.65309	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000050	T	0.75693	0.3884	L	0.51853	1.615	0.43994	D	0.996697	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.85130	0.992;0.988;0.997;0.995	T	0.78593	-0.2144	10	0.87932	D	0	.	18.1916	0.89808	0.0:1.0:0.0:0.0	.	380;380;380;267	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	M	380;380;380;267;380	ENSP00000351416:V380M;ENSP00000332265:V380M;ENSP00000427151:V267M	ENSP00000332265:V380M	V	-	1	0	ANKRD17	74238557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.295000	0.77249	0.557000	0.71058	GTG		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	74019693	C	T	74019693	3	4	414	1	0	0	0	0	1	0	0	0	646	478	17	2	6789	2	ANKRD17	4	74019693	Missense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08		74019693	117134583	12	22646											
GALNTL6	442117	broad.mit.edu	37	4	173730669	173730669	+	Silent	SNP	C	C	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr4:173730669C>A	ENST00000506823.1	+	6	1368	c.711C>A	c.(709-711)gtC>gtA	p.V237V	GALNTL6_ENST00000508122.1_Silent_p.V220V	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	237	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V237V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACTGCGAGGTCAATGTGAACT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	4											71	64	66					4																	173730669		2203	4300	6503	173967244	SO:0001819	synonymous_variant	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.711C>A	4.37:g.173730669C>A			173967244	Q2L4S6	Silent	SNP	ENST00000506823.1	37	CCDS34104.1																																																																																				0.547	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		A	173730669	C	A	173730669	2	1	414	1	0	0	0	0	0	0	0	1	6225	813	29	3		3	GALNTL6	4	173730669	Silent	SNP	C	TCGA-59-2354-01A-01W-0799-08	99710976	173730669	17423607	13	22647											
BTN3A1	11119	broad.mit.edu	37	6	26406166	26406166	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr6:26406166C>T	ENST00000289361.6	+	3	483	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	BTN3A1_ENST00000476549.2_Missense_Mutation_p.P39S|BTN3A1_ENST00000425234.2_Missense_Mutation_p.P39S|BTN3A1_ENST00000414912.2_Missense_Mutation_p.P39S	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	39	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P39S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACCCTCTGGGCCCATCCTGGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	6											71	69	70					6																	26406166		2203	4300	6503	26514145	SO:0001583	missense	11119			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.115C>T	6.37:g.26406166C>T	ENSP00000289361:p.Pro39Ser		26514145	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.211753	0.79240	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000427334;ENST00000506698;ENST00000414912	T;T;T;T;T;T;T	0.80123	-0.18;-0.18;-0.18;-0.18;-1.34;4.27;-0.18	2.21	2.21	0.28008	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80752	0.4683	M	0.64080	1.96	0.18873	N	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.66626	-0.5876	9	0.49607	T	0.09	.	8.0313	0.30467	0.0:1.0:0.0:0.0	.	39;39;39;39	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	S	39	ENSP00000420010:P39S;ENSP00000289361:P39S;ENSP00000394937:P39S;ENSP00000396684:P39S;ENSP00000399393:P39S;ENSP00000427013:P39S;ENSP00000406667:P39S	ENSP00000289361:P39S	P	+	1	0	BTN3A1	26514145	0.001000	0.12720	0.016000	0.15963	0.922000	0.55478	0.977000	0.29475	1.552000	0.49463	0.556000	0.70494	CCC		0.572	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			T	26406166	C	T	26406166	3	4	414	1	0	0	0	0	1	0	0	0	1562	739	26	2	121	2	BTN3A1	6	26406166	Missense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08		26406166	144708901	14	22648											
BAT2	7916	broad.mit.edu	37	6	31595940	31595940	+	Silent	SNP	G	G	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr6:31595940G>T	ENST00000376033.2	+	12	1923	c.1689G>T	c.(1687-1689)gtG>gtT	p.V563V	PRRC2A_ENST00000376007.4_Silent_p.V563V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	563	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V563V(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCCAGGTGTGGCTGCGGCTC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	6											90	80	84					6																	31595940		1511	2709	4220	31703919	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1689G>T	6.37:g.31595940G>T			31703919	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																				0.602	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		T	31595940	G	T	31595940	2	4	414	1	0	0	0	0	0	0	0	1	1319	1335	47	3		3	BAT2	6	31595940	Silent	SNP	G	TCGA-59-2354-01A-01W-0799-08	5189774	31595940	139519127	15	22649											
SYNGAP1	8831	broad.mit.edu	37	6	33400020	33400020	+	Silent	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr6:33400020C>T	ENST00000418600.2	+	4	479	c.378C>T	c.(376-378)ttC>ttT	p.F126F	SYNGAP1_ENST00000293748.5_Silent_p.F126F|SYNGAP1_ENST00000428982.2_Silent_p.F67F|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	126					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.F111F(1)|p.F126F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTGCGCCCTTCCGGCCCTCGG	0.647																																																2	Substitution - coding silent(2)	ovary(2)	6											40	39	39					6																	33400020		2203	4300	6503	33507998	SO:0001819	synonymous_variant	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.378C>T	6.37:g.33400020C>T			33507998	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	CCDS34434.2																																																																																				0.647	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		T	33400020	C	T	33400020	2	4	414	1	0	0	0	0	0	0	0	1	15447	854	30	2		2	SYNGAP1	6	33400020	Silent	SNP	C	TCGA-59-2354-01A-01W-0799-08	1804080	33400020	137715047	16	22650											
PKHD1	5314	broad.mit.edu	37	6	51701201	51701201	+	Splice_Site	SNP	C	C	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr6:51701201C>A	ENST00000371117.3	-	51	8449		c.e51+1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTAATACTCACCTGAAATAGT	0.423																																																1	Unknown(1)	ovary(1)	6											159	135	143					6																	51701201		2203	4300	6503	51809160	SO:0001630	splice_region_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8173+1G>T	6.37:g.51701201C>A			51809160	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310719	0.81358	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKHD1	51809160	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.285000	0.58989	2.941000	0.99782	0.655000	0.94253	.		0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Intron	A	51701201	C	A	51701201	5	1	414	1	0	0	0	0	0	0	1	0	11971	521	18	3	4157	3	PKHD1	6	51701201	Splice_Site	SNP	C	TCGA-59-2354-01A-01W-0799-08	18301181	51701201	119413866	17	22651											
BEND3	57673	broad.mit.edu	37	6	107419800	107419800	+	Silent	SNP	C	C	G			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr6:107419800C>G	ENST00000369042.1	-	3	385	c.195G>C	c.(193-195)ctG>ctC	p.L65L	BEND3_ENST00000429433.2_Silent_p.L65L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	65								p.L65L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGAGTCTAGCAGGCCATCGC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	6											67	63	64					6																	107419800		2203	4300	6503	107526493	SO:0001819	synonymous_variant	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.195G>C	6.37:g.107419800C>G			107526493	A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	CCDS34507.1																																																																																				0.592	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		G	107419800	C	G	107419800	2	3	414	1	0	0	0	0	0	0	0	1	1399	697	25	3		3	BEND3	6	107419800	Silent	SNP	C	TCGA-59-2354-01A-01W-0799-08	55718599	107419800	63695267	18	22652											
FAM180A	389558	broad.mit.edu	37	7	135418868	135418868	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr7:135418868G>C	ENST00000338588.3	-	3	642	c.377C>G	c.(376-378)aCa>aGa	p.T126R	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.T126R	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	126						extracellular region (GO:0005576)		p.T126R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GGTCAGCACTGTCCTTTCAAA	0.607																																																1	Substitution - Missense(1)	ovary(1)	7											146	121	129					7																	135418868		2203	4300	6503	135069408	SO:0001583	missense	389558			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.377C>G	7.37:g.135418868G>C	ENSP00000342336:p.Thr126Arg		135069408	B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332297	0.81801	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.34859	1.34;1.34	5.65	4.76	0.60689	.	0.046057	0.85682	D	0.000000	T	0.54143	0.1840	M	0.68952	2.095	0.46849	D	0.999225	D	0.76494	0.999	D	0.64410	0.925	T	0.56974	-0.7890	10	0.62326	D	0.03	-11.802	11.5276	0.50588	0.0881:0.0:0.9119:0.0	.	126	Q6UWF9	F180A_HUMAN	R	126	ENSP00000342336:T126R;ENSP00000395467:T126R	ENSP00000342336:T126R	T	-	2	0	FAM180A	135069408	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	5.465000	0.66725	1.372000	0.46190	0.561000	0.74099	ACA		0.607	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		C	135418868	G	C	135418868	3	2	414	1	0	0	0	0	1	0	0	0	5507	1377	48	3	148	3	FAM180A	7	135418868	Missense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08		135418868	23719795	19	22653											
TNKS	8658	broad.mit.edu	37	8	9610113	9610113	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr8:9610113C>T	ENST00000310430.6	+	20	3156	c.3130C>T	c.(3130-3132)Cgg>Tgg	p.R1044W	TNKS_ENST00000518281.1_Missense_Mutation_p.R807W	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1044	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.R1044W(1)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGAACACCTTCGGGATATCTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	8											87	91	90					8																	9610113		2203	4300	6503	9647523	SO:0001583	missense	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3130C>T	8.37:g.9610113C>T	ENSP00000311579:p.Arg1044Trp		9647523	O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019495	0.75275	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	D;D	0.84944	-1.92;-1.92	5.57	4.68	0.58851	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	L	0.31578	0.945	0.80722	D	1	D	0.69078	0.997	P	0.61658	0.892	D	0.88197	0.2881	10	0.62326	D	0.03	.	16.0331	0.80597	0.135:0.865:0.0:0.0	.	1044	O95271	TNKS1_HUMAN	W	1044;807	ENSP00000311579:R1044W;ENSP00000429890:R807W	ENSP00000311579:R1044W	R	+	1	2	TNKS	9647523	0.918000	0.31147	1.000000	0.80357	0.997000	0.91878	1.964000	0.40462	1.324000	0.45282	0.650000	0.86243	CGG		0.343	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		T	9610113	C	T	9610113	3	4	414	1	0	0	0	0	1	0	0	0	16319	875	31	1	3208	1	TNKS	8	9610113	Missense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08		9610113	136753909	20	22654											
LGI3	203190	broad.mit.edu	37	8	22006036	22006036	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr8:22006036G>T	ENST00000306317.2	-	8	1573	c.1284C>A	c.(1282-1284)caC>caA	p.H428Q	LGI3_ENST00000424267.2_Missense_Mutation_p.H404Q	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	428					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)	p.H428Q(1)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGCACGAAAGTGTTTCACAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	8											70	57	62					8																	22006036		2203	4300	6503	22061981	SO:0001583	missense	203190			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1284C>A	8.37:g.22006036G>T	ENSP00000302297:p.His428Gln		22061981	A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290791	0.59976	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	D;D	0.81499	-1.5;-1.5	5.19	1.59	0.23543	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	M	0.68317	2.08	0.44570	D	0.997538	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.83729	0.0197	10	0.72032	D	0.01	-46.9199	7.862	0.29516	0.4113:0.0:0.5886:0.0	.	404;428	A5PLP2;Q8N145	.;LGI3_HUMAN	Q	428;404	ENSP00000302297:H428Q;ENSP00000399121:H404Q	ENSP00000302297:H428Q	H	-	3	2	LGI3	22061981	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.056000	0.30480	0.454000	0.26884	0.561000	0.74099	CAC		0.632	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			T	22006036	G	T	22006036	3	4	414	1	0	0	0	0	1	0	0	0	8753	1020	36	3	366	3	LGI3	8	22006036	Missense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08	12395923	22006036	124357986	21	22655											
ANK1	286	broad.mit.edu	37	8	41580729	41580729	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr8:41580729G>T	ENST00000347528.4	-	9	906	c.823C>A	c.(823-825)Cct>Act	p.P275T	ANK1_ENST00000396945.1_Missense_Mutation_p.P275T|ANK1_ENST00000396942.1_Missense_Mutation_p.P275T|ANK1_ENST00000352337.4_Missense_Mutation_p.P275T|ANK1_ENST00000379758.2_Missense_Mutation_p.P275T|ANK1_ENST00000289734.7_Missense_Mutation_p.P275T|ANK1_ENST00000265709.8_Missense_Mutation_p.P308T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	275	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.P275T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGTGGAGAGGTGTCAATTCG	0.502																																																1	Substitution - Missense(1)	ovary(1)	8											133	119	124					8																	41580729		2203	4300	6503	41699886	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.823C>A	8.37:g.41580729G>T	ENSP00000339620:p.Pro275Thr		41699886	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958558	0.92726	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.41	5.41	0.78517	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.91663	0.7365	M	0.89478	3.035	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.865;1.0;1.0	D;D;B;D;D	0.97110	1.0;1.0;0.408;0.994;1.0	D	0.92815	0.6267	10	0.72032	D	0.01	.	19.1876	0.93649	0.0:0.0:1.0:0.0	.	308;275;275;275;275	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	T	275;275;275;275;275;275;308;275	ENSP00000339620:P275T;ENSP00000289734:P275T;ENSP00000369082:P275T;ENSP00000380149:P275T;ENSP00000380147:P275T;ENSP00000309131:P275T;ENSP00000265709:P308T	ENSP00000265709:P308T	P	-	1	0	ANK1	41699886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.537000	0.85549	0.655000	0.94253	CCT		0.502	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41580729	G	T	41580729	3	4	414	1	0	0	0	0	1	0	0	0	620	1261	44	3	5312	3	ANK1	8	41580729	Missense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08	19574693	41580729	104783293	22	22656											
CHD7	55636	broad.mit.edu	37	8	61778184	61778184	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr8:61778184T>C	ENST00000423902.2	+	38	9165	c.8686T>C	c.(8686-8688)Tcc>Ccc	p.S2896P	CHD7_ENST00000524602.1_Missense_Mutation_p.S847P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2896					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S2896P(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTCCTCCTGTCCACAATGGC	0.582																																																1	Substitution - Missense(1)	ovary(1)	8											95	102	100					8																	61778184		2048	4193	6241	61940738	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8686T>C	8.37:g.61778184T>C	ENSP00000392028:p.Ser2896Pro		61940738	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756402	0.31137	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	T;T	0.81078	-1.45;2.05	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	T	0.78227	0.4250	N	0.11313	0.125	0.58432	D	0.999999	D	0.54601	0.967	D	0.63033	0.91	T	0.79638	-0.1720	10	0.35671	T	0.21	-12.237	14.5847	0.68315	0.0:0.0:0.0:1.0	.	2896	Q9P2D1	CHD7_HUMAN	P	2896;2896;847	ENSP00000392028:S2896P;ENSP00000437061:S847P	ENSP00000307304:S2896P	S	+	1	0	CHD7	61940738	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.624000	0.83124	1.828000	0.53243	0.533000	0.62120	TCC		0.582	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		C	61778184	T	C	61778184	3	2	414	1	0	0	0	0	1	0	0	0	3330	1667	58	4	8832	4	CHD7	8	61778184	Missense_Mutation	SNP	T	TCGA-59-2354-01A-01W-0799-08	20197455	61778184	84585838	23	22657											
SLCO5A1	81796	broad.mit.edu	37	8	70585335	70585335	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr8:70585335C>G	ENST00000260126.4	-	10	3022	c.2316G>C	c.(2314-2316)caG>caC	p.Q772H	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.Q717H|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	772						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Q772H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAAATTCTCTCTGCCTCCGCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	8											98	87	91					8																	70585335		2203	4300	6503	70747889	SO:0001583	missense	81796			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2316G>C	8.37:g.70585335C>G	ENSP00000260126:p.Gln772His		70747889	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464527	0.26335	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.40756	1.13;1.02	5.93	3.0	0.34707	Major facilitator superfamily domain, general substrate transporter (1);	0.565590	0.19348	N	0.116476	T	0.31009	0.0783	N	0.24115	0.695	0.23893	N	0.996548	B;B	0.30709	0.291;0.001	B;B	0.27262	0.078;0.001	T	0.16600	-1.0397	10	0.46703	T	0.11	.	16.7456	0.85470	0.0:0.6121:0.3879:0.0	.	717;772	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	H	772;717	ENSP00000260126:Q772H;ENSP00000431611:Q717H	ENSP00000260126:Q772H	Q	-	3	2	SLCO5A1	70747889	1.000000	0.71417	0.807000	0.32361	0.879000	0.50718	1.613000	0.36900	0.835000	0.34877	0.655000	0.94253	CAG		0.522	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		G	70585335	C	G	70585335	3	3	414	1	0	0	0	0	1	0	0	0	14734	912	32	3	234	3	SLCO5A1	8	70585335	Missense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08	8807151	70585335	75778687	24	22658											
ADAMTSL1	92949	broad.mit.edu	37	9	18906802	18906802	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr9:18906802G>T	ENST00000380548.4	+	28	5413	c.5074G>T	c.(5074-5076)Gtg>Ttg	p.V1692L	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.V393L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1692	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1692L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTCCCGGCGTGTGGAGTGTGT	0.637																																																1	Substitution - Missense(1)	ovary(1)	9											53	67	62					9																	18906802		2133	4225	6358	18896802	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.5074G>T	9.37:g.18906802G>T	ENSP00000369921:p.Val1692Leu		18896802	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260183	0.95368	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.62639	0.01;0.01	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000006	T	0.81432	0.4821	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.85130	0.997;0.994;0.978	T	0.81495	-0.0907	10	0.42905	T	0.14	.	19.2299	0.93834	0.0:0.0:1.0:0.0	.	1193;393;1692	A2A344;Q8N6G6-6;Q8N6G6	.;.;ATL1_HUMAN	L	1692;393;396	ENSP00000369921:V1692L;ENSP00000369918:V393L	ENSP00000325584:V396L	V	+	1	0	ADAMTSL1	18896802	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.765000	0.98953	2.549000	0.85964	0.563000	0.77884	GTG		0.637	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			T	18906802	G	T	18906802	3	4	414	1	0	0	0	0	1	0	0	0	274	1377	48	3	5188	3	ADAMTSL1	9	18906802	Missense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08		18906802	122306629	25	22659											
HAUS6	54801	broad.mit.edu	37	9	19063008	19063008	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr9:19063008C>T	ENST00000380502.3	-	14	2094	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	HAUS6_ENST00000380496.1_Missense_Mutation_p.E407K|SCARNA8_ENST00000515924.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	543					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.E543K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTCTCACCTCTTCTACCAGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	9											164	149	154					9																	19063008		2203	4300	6503	19053008	SO:0001583	missense	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1627G>A	9.37:g.19063008C>T	ENSP00000369871:p.Glu543Lys		19053008	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392034	0.83011	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.53423	1.63;1.62;0.62	5.54	5.54	0.83059	.	0.101103	0.64402	D	0.000002	T	0.68412	0.2998	M	0.72479	2.2	0.40296	D	0.97855	P;P;D;P	0.89917	0.944;0.944;1.0;0.944	P;P;D;P	0.87578	0.651;0.558;0.998;0.651	T	0.71842	-0.4470	10	0.72032	D	0.01	-7.6635	16.2177	0.82239	0.0:1.0:0.0:0.0	.	508;543;407;543	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	K	543;407;59	ENSP00000369871:E543K;ENSP00000369865:E407K;ENSP00000409615:E59K	ENSP00000369865:E407K	E	-	1	0	HAUS6	19053008	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.950000	0.49081	2.606000	0.88127	0.563000	0.77884	GAG		0.413	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		T	19063008	C	T	19063008	3	4	414	1	0	0	0	0	1	0	0	0	6970	922	32	2	1256	2	HAUS6	9	19063008	Missense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08	156206	19063008	122150423	26	22660											
NOL6	65083	broad.mit.edu	37	9	33466615	33466615	+	Silent	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr9:33466615C>T	ENST00000379471.2	-	16	2130	c.2043G>A	c.(2041-2043)ctG>ctA	p.L681L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L629L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	681					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L681L(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGACACGGTCAGTGGGAGAC	0.622											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	9											86	76	80					9																	33466615		2203	4300	6503	33456615	SO:0001819	synonymous_variant	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2043G>A	9.37:g.33466615C>T		840	33456615	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37																																																																																					0.622	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		T	33466615	C	T	33466615	2	4	414	1	0	0	0	0	0	0	0	1	10525	813	29	2		2	NOL6	9	33466615	Silent	SNP	C	TCGA-59-2354-01A-01W-0799-08	14403607	33466615	107746816	27	22661											
CCIN	881	broad.mit.edu	37	9	36170503	36170503	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr9:36170503C>A	ENST00000335119.2	+	1	1115	c.1004C>A	c.(1003-1005)aCc>aAc	p.T335N		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.T335N(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTGGTGGCACCACTGAGCAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	9											105	94	98					9																	36170503		2203	4300	6503	36160503	SO:0001583	missense	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1004C>A	9.37:g.36170503C>A	ENSP00000334996:p.Thr335Asn		36160503	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844913	0.51164	.	.	ENSG00000185972	ENST00000335119	T	0.41065	1.01	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000015	T	0.56156	0.1966	L	0.44542	1.39	0.39043	D	0.960174	D	0.62365	0.991	D	0.78314	0.991	T	0.49204	-0.8964	10	0.29301	T	0.29	.	15.9243	0.79603	0.0:1.0:0.0:0.0	.	335	Q13939	CALI_HUMAN	N	335	ENSP00000334996:T335N	ENSP00000334996:T335N	T	+	2	0	CCIN	36160503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.995000	0.49441	2.839000	0.97877	0.655000	0.94253	ACC		0.557	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		A	36170503	C	A	36170503	3	1	414	1	0	0	0	0	1	0	0	0	2878	507	18	3	1006	3	CCIN	9	36170503	Missense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08	2703888	36170503	105042928	28	22662											
HIATL1	84641	broad.mit.edu	37	9	97207275	97207275	+	Silent	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr9:97207275C>T	ENST00000375344.3	+	6	809	c.540C>T	c.(538-540)gtC>gtT	p.V180V	HIATL1_ENST00000428393.2_Silent_p.V115V	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	180					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V180V(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CTAGTCTTGTCAGCAGCCCGG	0.557																																					Pancreas(77;1260 1915 1973 10423)											1	Substitution - coding silent(1)	ovary(1)	9											122	110	114					9																	97207275		2203	4300	6503	96247096	SO:0001819	synonymous_variant	84641			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.540C>T	9.37:g.97207275C>T			96247096	B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	ENST00000375344.3	37	CCDS6710.2																																																																																				0.557	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		T	97207275	C	T	97207275	2	4	414	1	0	0	0	0	0	0	0	1	7098	813	29	2		2	HIATL1	9	97207275	Silent	SNP	C	TCGA-59-2354-01A-01W-0799-08	61036772	97207275	44006156	29	22663											
LRRC18	474354	broad.mit.edu	37	10	50122131	50122131	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr10:50122131T>A	ENST00000374160.3	-	1	146	c.70A>T	c.(70-72)Atc>Ttc	p.I24F	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.I24F|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	24						cytoplasm (GO:0005737)		p.I24F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCAAAAGTGATTTTGATGCAA	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											77	70	72					10																	50122131		2203	4300	6503	49792137	SO:0001583	missense	474354			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.70A>T	10.37:g.50122131T>A	ENSP00000363275:p.Ile24Phe		49792137	Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.391761	0.42410	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.59502	0.44;0.26	6.06	-2.5	0.06384	.	0.800810	0.12006	N	0.508310	T	0.49047	0.1534	L	0.54323	1.7	0.09310	N	0.999999	P	0.39216	0.664	B	0.36030	0.216	T	0.37033	-0.9723	9	.	.	.	.	14.2162	0.65795	0.0:0.6137:0.0:0.3863	.	24	Q8N456	LRC18_HUMAN	F	24	ENSP00000363275:I24F;ENSP00000298124:I24F	.	I	-	1	0	LRRC18	49792137	0.001000	0.12720	0.410000	0.26471	0.980000	0.70556	-0.277000	0.08502	-0.745000	0.04772	-0.248000	0.11899	ATC		0.468	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		A	50122131	T	A	50122131	3	1	414	1	0	0	0	0	1	0	0	0	8974	1493	52	5	723	5	LRRC18	10	50122131	Missense_Mutation	SNP	T	TCGA-59-2354-01A-01W-0799-08		50122131	85412616	30	22664											
OR5J2	282775	broad.mit.edu	37	11	55944594	55944594	+	Silent	SNP	C	C	G			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr11:55944594C>G	ENST00000312298.1	+	1	501	c.501C>G	c.(499-501)tcC>tcG	p.S167S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S167S(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GGAGACTGTCCTTTTGTAGGC	0.428																																																2	Substitution - coding silent(2)	large_intestine(1)|ovary(1)	11											173	151	158					11																	55944594		2201	4296	6497	55701170	SO:0001819	synonymous_variant	282775			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.501C>G	11.37:g.55944594C>G			55701170	Q6IEU5	Silent	SNP	ENST00000312298.1	37	CCDS31522.1																																																																																				0.428	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		G	55944594	C	G	55944594	2	3	414	1	0	0	0	0	0	0	0	1	11165	668	24	3		3	OR5J2	11	55944594	Silent	SNP	C	TCGA-59-2354-01A-01W-0799-08		55944594	79061922	31	22665											
STIP1	10963	broad.mit.edu	37	11	63962067	63962067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr11:63962067C>T	ENST00000305218.4	+	4	625	c.478C>T	c.(478-480)Cga>Tga	p.R160*	STIP1_ENST00000538945.1_Nonsense_Mutation_p.R136*|STIP1_ENST00000358794.5_Nonsense_Mutation_p.R207*|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Nonsense_Mutation_p.R160*	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	160	STI1 1.				response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R160*(2)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAGCAGCTACGAAACAAGCC	0.507																																																2	Substitution - Nonsense(2)	ovary(1)|endometrium(1)	11											99	81	88					11																	63962067		2201	4297	6498	63718643	SO:0001587	stop_gained	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.478C>T	11.37:g.63962067C>T	ENSP00000305958:p.Arg160*		63718643	B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Nonsense_Mutation	SNP	ENST00000305218.4	37	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559244	0.45590	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	.	.	.	5.57	4.65	0.58169	.	0.064919	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-4.4194	12.952	0.58407	0.2941:0.7059:0.0:0.0	.	.	.	.	X	207;160;136;160	.	ENSP00000305958:R160X	R	+	1	2	STIP1	63718643	0.830000	0.29337	0.138000	0.22173	0.080000	0.17528	1.940000	0.40223	1.479000	0.48272	0.650000	0.86243	CGA		0.507	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		T	63962067	C	T	63962067	4	4	414	1	0	0	0	0	0	1	0	0	15287	528	19	1	492	1	STIP1	11	63962067	Nonsense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08	8017473	63962067	71044449	32	22666											
SLC36A4	120103	broad.mit.edu	37	11	92901196	92901196	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr11:92901196C>G	ENST00000326402.4	-	7	812	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q	SLC36A4_ENST00000529184.1_Missense_Mutation_p.E93Q	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	228					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.E228Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCTTTAGTTCACGAATGAAG	0.348																																																1	Substitution - Missense(1)	ovary(1)	11											113	111	112					11																	92901196		2201	4296	6497	92540844	SO:0001583	missense	120103			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.682G>C	11.37:g.92901196C>G	ENSP00000317382:p.Glu228Gln		92540844	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221478	0.39300	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02258	4.37;4.37;4.37	5.59	5.59	0.84812	.	0.253274	0.36778	N	0.002418	T	0.03348	0.0097	N	0.20574	0.59	0.42043	D	0.991082	B	0.27013	0.166	B	0.34346	0.18	T	0.57952	-0.7722	10	0.87932	D	0	-3.3701	19.585	0.95487	0.0:1.0:0.0:0.0	.	228	Q6YBV0	S36A4_HUMAN	Q	228;93;122	ENSP00000317382:E228Q;ENSP00000436570:E93Q;ENSP00000432061:E122Q	ENSP00000317382:E228Q	E	-	1	0	SLC36A4	92540844	1.000000	0.71417	0.997000	0.53966	0.175000	0.22909	3.646000	0.54396	2.615000	0.88500	0.557000	0.71058	GAA		0.348	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			G	92901196	C	G	92901196	3	3	414	1	0	0	0	0	1	0	0	0	14599	835	29	3	852	3	SLC36A4	11	92901196	Missense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08	28939129	92901196	42105320	33	22667											
CD163L1	283316	broad.mit.edu	37	12	7522197	7522197	+	Silent	SNP	G	G	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr12:7522197G>A	ENST00000313599.3	-	15	3852	c.3795C>T	c.(3793-3795)ggC>ggT	p.G1265G	CD163L1_ENST00000416109.2_Silent_p.G1275G|CD163L1_ENST00000396630.1_Silent_p.G1265G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1265	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G1265G(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCCCAGGAGCCTGCGTGCC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	12											89	86	87					12																	7522197		2203	4300	6503	7413464	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3795C>T	12.37:g.7522197G>A			7413464	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				0.592	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7522197	G	A	7522197	2	1	414	1	0	0	0	0	0	0	0	1	2968	958	34	2		2	CD163L1	12	7522197	Silent	SNP	G	TCGA-59-2354-01A-01W-0799-08		7522197	126329698	34	22668											
CNTN1	1272	broad.mit.edu	37	12	41408099	41408099	+	Splice_Site	SNP	C	C	T	rs201782849		TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr12:41408099C>T	ENST00000551295.2	+	18	2300	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V	CNTN1_ENST00000348761.2_Splice_Site_p.A717V|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Splice_Site_p.A728V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	728	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A728V(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAACATGGGCGGTAAGTATT	0.388																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	12											153	137	143					12																	41408099		2203	4300	6503	39694366	SO:0001630	splice_region_variant	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2184+1C>T	12.37:g.41408099C>T			39694366	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344981	0.41498	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57273	0.41;0.41;0.41	5.45	3.56	0.40772	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.372699	0.30969	N	0.008508	T	0.23532	0.0569	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.09185	-1.0686	10	0.48119	T	0.1	.	2.6163	0.04905	0.2205:0.4885:0.0:0.291	.	717;728	Q12860-2;Q12860	.;CNTN1_HUMAN	V	728;728;717	ENSP00000447006:A728V;ENSP00000325660:A728V;ENSP00000261160:A717V	ENSP00000325660:A728V	A	+	2	0	CNTN1	39694366	1.000000	0.71417	0.995000	0.50966	0.882000	0.50991	2.795000	0.47861	1.560000	0.49568	0.655000	0.94253	GCG		0.388	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	Missense_Mutation	T	41408099	C	T	41408099	5	4	414	1	0	0	0	0	0	0	1	0	3640	782	27	1	2249	1	CNTN1	12	41408099	Splice_Site	SNP	C	TCGA-59-2354-01A-01W-0799-08	33885902	41408099	92443796	35	22669											
VDR	7421	broad.mit.edu	37	12	48251311	48251311	+	Silent	SNP	G	G	C	rs543098804		TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr12:48251311G>C	ENST00000395324.2	-	5	706	c.438C>G	c.(436-438)acC>acG	p.T146T	VDR_ENST00000549336.1_Silent_p.T146T|VDR_ENST00000535672.1_Silent_p.T114T|VDR_ENST00000550325.1_Silent_p.T196T|VDR_ENST00000229022.3_Silent_p.T146T			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	146	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.T146T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGTCGGAGTAGGTGGGGTCGT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	12											119	106	110					12																	48251311		2203	4300	6503	46537578	SO:0001819	synonymous_variant	7421			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.438C>G	12.37:g.48251311G>C			46537578	B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	CCDS8757.1																																																																																				0.612	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			C	48251311	G	C	48251311	2	2	414	1	0	0	0	0	0	0	0	1	17149	987	35	3		3	VDR	12	48251311	Silent	SNP	G	TCGA-59-2354-01A-01W-0799-08	6843212	48251311	85600584	36	22670											
PAH	5053	broad.mit.edu	37	12	103246708	103246708	+	Nonsense_Mutation	SNP	G	G	A	rs5030846		TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr12:103246708G>A	ENST00000553106.1	-	7	1199	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Nonsense_Mutation_p.R238*	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	243			R -> Q (in non-PKU HPA and PKU; haplotypes 4,7,9). {ECO:0000269|PubMed:9600453, ECO:0000269|PubMed:9852673}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.R243*(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GCCACAGGTCGGAGGCGGAAA	0.527																																																1	Substitution - Nonsense(1)	ovary(1)	12	GRCh37	CM900176	PAH	M	rs5030846						62	69	67					12																	103246708		2203	4300	6503	101770838	SO:0001587	stop_gained	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.727C>T	12.37:g.103246708G>A	ENSP00000448059:p.Arg243*		101770838	Q16717|Q8TC14	Nonsense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	G	43	10.170476	0.99351	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	.	.	.	5.92	3.03	0.35002	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5929	9.9352	0.41548	0.0645:0.0:0.686:0.2495	rs5030846	.	.	.	X	243;238	.	ENSP00000303500:R238X	R	-	1	2	PAH	101770838	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.973000	0.88032	0.368000	0.24481	-0.319000	0.08680	CGA		0.527	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			A	103246708	G	A	103246708	4	1	414	1	0	0	0	0	0	1	0	0	11394	1124	39	1	659	1	PAH	12	103246708	Nonsense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08	54995397	103246708	30605187	37	22671											
CRY1	1407	broad.mit.edu	37	12	107393837	107393837	+	Silent	SNP	T	T	C			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr12:107393837T>C	ENST00000008527.5	-	6	1575	c.708A>G	c.(706-708)agA>agG	p.R236R		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	236					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.R236R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCATTCGAGGTCTTTCAAAAT	0.353																																																1	Substitution - coding silent(1)	ovary(1)	12											73	74	74					12																	107393837		2203	4300	6503	105917967	SO:0001819	synonymous_variant	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.708A>G	12.37:g.107393837T>C			105917967		Silent	SNP	ENST00000008527.5	37	CCDS9112.1																																																																																				0.353	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		C	107393837	T	C	107393837	2	2	414	1	0	0	0	0	0	0	0	1	3903	1664	58	4		4	CRY1	12	107393837	Silent	SNP	T	TCGA-59-2354-01A-01W-0799-08	4147129	107393837	26458058	38	22672											
OR4K15	81127	broad.mit.edu	37	14	20444054	20444054	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr14:20444054T>A	ENST00000305051.5	+	1	452	c.377T>A	c.(376-378)tTc>tAc	p.F126Y		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F126Y(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCCAGATTTTCTTTGTTCAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	14											128	130	129					14																	20444054		2203	4299	6502	19513894	SO:0001583	missense	81127				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.377T>A	14.37:g.20444054T>A	ENSP00000304077:p.Phe126Tyr		19513894	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.816626	0.50633	.	.	ENSG00000169488	ENST00000305051	T	0.00344	8.02	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.124998	0.36444	N	0.002581	T	0.00468	0.0015	L	0.45581	1.43	0.20074	N	0.999936	D	0.89917	1.0	D	0.77004	0.989	T	0.52859	-0.8519	10	0.66056	D	0.02	.	6.3745	0.21499	0.2196:0.0:0.0:0.7804	.	126	Q8NH41	OR4KF_HUMAN	Y	126	ENSP00000304077:F126Y	ENSP00000304077:F126Y	F	+	2	0	OR4K15	19513894	0.164000	0.22935	0.190000	0.23270	0.906000	0.53458	0.429000	0.21412	1.578000	0.49821	0.477000	0.44152	TTC		0.443	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			A	20444054	T	A	20444054	3	1	414	1	0	0	0	0	1	0	0	0	11070	1783	62	5	379	5	OR4K15	14	20444054	Missense_Mutation	SNP	T	TCGA-59-2354-01A-01W-0799-08		20444054	86905486	39	22673											
PROX2	283571	broad.mit.edu	37	14	75329537	75329537	+	Nonsense_Mutation	SNP	A	A	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr14:75329537A>T	ENST00000445876.1	-	1	1000	c.1001T>A	c.(1000-1002)tTg>tAg	p.L334*	PROX2_ENST00000556489.2_Nonsense_Mutation_p.L334*|PROX2_ENST00000556084.2_Intron			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	334					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGGTGCAGTCAAGGGAAAGTT	0.502																																																0			14											62	66	65					14																	75329537		1871	4122	5993	74399290	SO:0001587	stop_gained	283571				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"Homeoboxes / PROS class"	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1001T>A	14.37:g.75329537A>T	ENSP00000405932:p.Leu334*		74399290	C9J5W1|Q8N9Q3	Nonsense_Mutation	SNP	ENST00000445876.1	37	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753377	0.49362	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	.	.	.	5.69	3.03	0.35002	.	0.474047	0.19193	N	0.120399	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.9972	8.9095	0.35543	0.7797:0.0:0.2203:0.0	.	.	.	.	X	334	.	ENSP00000374315:L334X	L	-	2	0	PROX2	74399290	0.009000	0.17119	0.002000	0.10522	0.216000	0.24613	1.431000	0.34925	0.310000	0.22990	0.454000	0.30748	TTG		0.502	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	75329537	A	T	75329537	4	4	414	1	0	0	0	0	0	1	0	0	12564	131	5	5	793	5	PROX2	14	75329537	Nonsense_Mutation	SNP	A	TCGA-59-2354-01A-01W-0799-08	54885483	75329537	32020003	40	22674											
TTBK2	146057	broad.mit.edu	37	15	43044268	43044268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr15:43044268C>T	ENST00000267890.6	-	14	3284	c.3176G>A	c.(3175-3177)tGg>tAg	p.W1059*		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1059					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.W1059*(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGTGTTGACCCATGAAACTGG	0.498																																																1	Substitution - Nonsense(1)	ovary(1)	15											148	156	153					15																	43044268		1987	4167	6154	40831560	SO:0001587	stop_gained	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3176G>A	15.37:g.43044268C>T	ENSP00000267890:p.Trp1059*		40831560	O94932|Q6ZN52|Q8IVV1	Nonsense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003259	0.98605	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	.	.	.	5.91	5.91	0.95273	.	0.067767	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	1059;989;1464	.	ENSP00000263802:W1464X	W	-	2	0	TTBK2	40831560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.648000	0.54410	2.802000	0.96397	0.655000	0.94253	TGG		0.498	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		T	43044268	C	T	43044268	4	4	414	1	0	0	0	0	0	1	0	0	16677	595	21	2	566	2	TTBK2	15	43044268	Nonsense_Mutation	SNP	C	TCGA-59-2354-01A-01W-0799-08		43044268	59487124	41	22675											
NTRK3	4916	broad.mit.edu	37	15	88476380	88476380	+	Missense_Mutation	SNP	A	A	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr15:88476380A>T	ENST00000360948.2	-	15	1913	c.1752T>A	c.(1750-1752)gaT>gaA	p.D584E	NTRK3_ENST00000557856.1_Missense_Mutation_p.D576E|NTRK3_ENST00000558676.1_Missense_Mutation_p.D576E|NTRK3_ENST00000357724.2_Missense_Mutation_p.D576E|NTRK3_ENST00000355254.2_Missense_Mutation_p.D584E|NTRK3_ENST00000394480.2_Missense_Mutation_p.D584E|NTRK3_ENST00000542733.2_Missense_Mutation_p.D486E	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	584	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D584E(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCTCTGGAAATCCTTCCGGG	0.562			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	1	Substitution - Missense(1)	ovary(1)	15											63	60	61					15																	88476380		2201	4299	6500	86277384	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1752T>A	15.37:g.88476380A>T	ENSP00000354207:p.Asp584Glu		86277384	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352408	0.82132	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	5.49	-4.98	0.03019	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80497	0.4634	N	0.16201	0.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.999;0.996;0.999	D;D;D;D;D	0.87578	0.998;0.994;0.991;0.99;0.991	T	0.79300	-0.1860	10	0.87932	D	0	.	14.7386	0.69437	0.3941:0.0:0.6059:0.0	.	486;576;576;584;584	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	E	584;584;576;584;486;80	ENSP00000377990:D584E;ENSP00000354207:D584E;ENSP00000350356:D576E;ENSP00000347397:D584E;ENSP00000437773:D486E	ENSP00000342792:D80E	D	-	3	2	NTRK3	86277384	0.010000	0.17322	0.914000	0.36105	0.992000	0.81027	-0.716000	0.04991	-1.170000	0.02769	-0.263000	0.10527	GAT		0.562	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				T	88476380	A	T	88476380	3	4	414	1	0	0	0	0	1	0	0	0	10708	98	4	5	787	5	NTRK3	15	88476380	Missense_Mutation	SNP	A	TCGA-59-2354-01A-01W-0799-08	45432112	88476380	14055012	42	22676											
OR2C1	4993	broad.mit.edu	37	16	3406249	3406249	+	Silent	SNP	C	C	T	rs373844589		TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr16:3406249C>T	ENST00000304936.2	+	1	361	c.309C>T	c.(307-309)gtC>gtT	p.V103V		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	103					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V103V(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGCTCTATGTCTTCCTTTGGC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	16											60	48	52					16																	3406249		2197	4300	6497	3346250	SO:0001819	synonymous_variant	4993			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.309C>T	16.37:g.3406249C>T			3346250	A0AVA4|Q6IF34|Q6IF55	Silent	SNP	ENST00000304936.2	37	CCDS10502.1																																																																																				0.562	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			T	3406249	C	T	3406249	2	4	414	1	0	0	0	0	0	0	0	1	10992	900	32	2		2	OR2C1	16	3406249	Silent	SNP	C	TCGA-59-2354-01A-01W-0799-08		3406249	86948504	43	22677											
JPH3	57338	broad.mit.edu	37	16	87678297	87678297	+	Missense_Mutation	SNP	G	G	T	rs142310848		TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr16:87678297G>T	ENST00000284262.2	+	2	1058	c.816G>T	c.(814-816)gaG>gaT	p.E272D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	272					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.E272D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGAGGCCGAGCTGGCGGTCA	0.662																																																1	Substitution - Missense(1)	ovary(1)	16											74	67	69					16																	87678297		2198	4300	6498	86235798	SO:0001583	missense	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.816G>T	16.37:g.87678297G>T	ENSP00000284262:p.Glu272Asp		86235798	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092845	0.56075	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.43688	0.94	5.03	5.03	0.67393	.	0.054688	0.64402	D	0.000001	T	0.24431	0.0592	N	0.11064	0.09	0.54753	D	0.999987	B	0.10296	0.003	B	0.10450	0.005	T	0.09840	-1.0656	10	0.07325	T	0.83	.	17.3468	0.87311	0.0:0.0:1.0:0.0	.	272	Q8WXH2	JPH3_HUMAN	D	135;272	ENSP00000284262:E272D	ENSP00000284262:E272D	E	+	3	2	JPH3	86235798	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.874000	0.48483	2.334000	0.79466	0.462000	0.41574	GAG		0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			T	87678297	G	T	87678297	3	4	414	1	0	0	0	0	1	0	0	0	7962	962	34	3	822	3	JPH3	16	87678297	Missense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08	84272048	87678297	2676456	44	22678											
STAT3	6774	broad.mit.edu	37	17	40498702	40498702	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr17:40498702G>C	ENST00000264657.5	-	3	470	c.158C>G	c.(157-159)gCc>gGc	p.A53G	STAT3_ENST00000588969.1_Missense_Mutation_p.A53G|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000585517.1_Missense_Mutation_p.A53G|STAT3_ENST00000404395.3_Missense_Mutation_p.A53G	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	53					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A53G(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CACCAAAGTGGCATGTGATTC	0.453									Hyperimmunoglobulin E Recurrent Infection Syndrome																																							1	Substitution - Missense(1)	ovary(1)	17											199	197	197					17																	40498702		2203	4300	6503	37752228	SO:0001583	missense	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.158C>G	17.37:g.40498702G>C	ENSP00000264657:p.Ala53Gly		37752228	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549610	0.96501	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	T;T	0.60171	0.21;0.21	5.66	5.66	0.87406	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.82823	2.61	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.992	D;D;D	0.77557	0.99;0.989;0.989	T	0.81342	-0.0976	10	0.87932	D	0	-21.9624	20.1041	0.97884	0.0:0.0:1.0:0.0	.	53;53;53	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	G	53	ENSP00000264657:A53G;ENSP00000384943:A53G	ENSP00000264657:A53G	A	-	2	0	STAT3	37752228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.668000	0.98619	2.826000	0.97356	0.655000	0.94253	GCC		0.453	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		C	40498702	G	C	40498702	3	2	414	1	0	0	0	0	1	0	0	0	15268	1203	42	3	2242	3	STAT3	17	40498702	Missense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08		40498702	40696508	45	22679											
FZD2	2535	broad.mit.edu	37	17	42635860	42635860	+	Silent	SNP	A	A	G			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr17:42635860A>G	ENST00000315323.3	+	1	936	c.804A>G	c.(802-804)gtA>gtG	p.V268V		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	268					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V268V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGTACTTGGTAGACATGCAGC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	17											81	76	78					17																	42635860		2203	4300	6503	39991386	SO:0001819	synonymous_variant	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.804A>G	17.37:g.42635860A>G			39991386	Q0VG82	Silent	SNP	ENST00000315323.3	37	CCDS11484.1																																																																																				0.597	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		G	42635860	A	G	42635860	2	3	414	1	0	0	0	0	0	0	0	1	6130	407	15	4		4	FZD2	17	42635860	Silent	SNP	A	TCGA-59-2354-01A-01W-0799-08	2137158	42635860	38559350	46	22680											
MGAT5B	146664	broad.mit.edu	37	17	74878256	74878256	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr17:74878256G>A	ENST00000569840.2	+	3	779	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	MGAT5B_ENST00000301618.4_Missense_Mutation_p.G69S|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G80S|MGAT5B_ENST00000565675.1_Missense_Mutation_p.G69S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	69					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.G69S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGTCCCGCGGCGTCCTGCG	0.687																																																1	Substitution - Missense(1)	ovary(1)	17											27	26	26					17																	74878256		2202	4293	6495	72389851	SO:0001583	missense	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.205G>A	17.37:g.74878256G>A	ENSP00000456037:p.Gly69Ser		72389851	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012561	0.75161	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.49139	0.8;0.79	5.23	5.23	0.72850	.	0.062596	0.64402	D	0.000006	T	0.41719	0.1171	N	0.16790	0.44	0.44462	D	0.997394	D;D	0.63880	0.993;0.987	P;P	0.56474	0.799;0.799	T	0.18713	-1.0328	10	0.06099	T	0.92	-23.7115	14.2918	0.66284	0.0:0.0:1.0:0.0	.	80;69	Q3V5L5-2;Q3V5L5-5	.;.	S	69;69;80	ENSP00000301618:G69S;ENSP00000391227:G80S	ENSP00000301618:G69S	G	+	1	0	MGAT5B	72389851	1.000000	0.71417	0.221000	0.23827	0.527000	0.34593	7.814000	0.86154	2.428000	0.82296	0.561000	0.74099	GGC		0.687	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		A	74878256	G	A	74878256	3	1	414	1	0	0	0	0	1	0	0	0	9549	1116	39	1	316	1	MGAT5B	17	74878256	Missense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08	32242396	74878256	6316954	47	22681											
SUPT5H	6829	broad.mit.edu	37	19	39944005	39944005	+	Nonsense_Mutation	SNP	G	G	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr19:39944005G>T	ENST00000599117.1	+	4	452	c.85G>T	c.(85-87)Gag>Tag	p.E29*	SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.E29*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.E29*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.E29*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.E29*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	29	Glu-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.E29*(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTAGACGAAGAGCGGCGGAG	0.517																																																1	Substitution - Nonsense(1)	ovary(1)	19											30	24	26					19																	39944005		2203	4300	6503	44635845	SO:0001587	stop_gained	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.85G>T	19.37:g.39944005G>T	ENSP00000470252:p.Glu29*		44635845	O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	g	36	5.705782	0.96812	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.69	4.69	0.59074	.	0.285500	0.31177	N	0.008105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.092	16.7746	0.85548	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	.	E	+	1	0	SUPT5H	44635845	1.000000	0.71417	0.999000	0.59377	0.386000	0.30323	6.195000	0.72088	2.329000	0.79093	0.454000	0.30748	GAG		0.517	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		T	39944005	G	T	39944005	4	4	414	1	0	0	0	0	0	1	0	0	15399	943	33	3	91	3	SUPT5H	19	39944005	Nonsense_Mutation	SNP	G	TCGA-59-2354-01A-01W-0799-08		39944005	19184978	48	22682											
CEACAM1	634	broad.mit.edu	37	19	43025455	43025455	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr19:43025455A>C	ENST00000161559.6	-	4	1056	c.922T>G	c.(922-924)Tgc>Ggc	p.C308G	CEACAM1_ENST00000352591.5_Missense_Mutation_p.C308G|CEACAM1_ENST00000358394.3_Missense_Mutation_p.C308G|CEACAM1_ENST00000599389.1_Missense_Mutation_p.C308G|CEACAM1_ENST00000403444.3_Missense_Mutation_p.C308G|CEACAM1_ENST00000403461.1_Missense_Mutation_p.C308G|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.C268G|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000351134.3_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	308	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.C308G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTCCTGTTGCAGCCAGTGACT	0.443																																																1	Substitution - Missense(1)	ovary(1)	19											207	187	194					19																	43025455		2203	4300	6503	47717295	SO:0001583	missense	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.922T>G	19.37:g.43025455A>C	ENSP00000161559:p.Cys308Gly		47717295	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	g	1.289	-0.608013	0.03717	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T	0.14766	2.76;2.76;2.76;2.76;2.76;2.48	5.24	3.06	0.35304	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06188	0.0160	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.002;0.0;0.001;0.0;0.001	B;B;B;B;B;B;B;B;B	0.20577	0.03;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.40251	-0.9573	9	0.28530	T	0.3	.	7.8353	0.29365	0.2631:0.0:0.7369:0.0	.	308;308;308;308;308;308;308;308;308	P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;CEAM1_HUMAN	G	308;308;335;268;308;308;308;268;308;308;308	ENSP00000161559:C308G;ENSP00000351165:C308G;ENSP00000244291:C308G;ENSP00000384709:C308G;ENSP00000384083:C308G;ENSP00000312184:C268G	ENSP00000161559:C308G	C	-	1	0	CEACAM1	47717295	0.002000	0.14202	0.009000	0.14445	0.102000	0.19082	0.507000	0.22675	0.803000	0.34113	-0.227000	0.12334	TGC		0.443	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		C	43025455	A	C	43025455	3	2	414	1	0	0	0	0	1	0	0	0	3187	188	7	5	779	5	CEACAM1	19	43025455	Missense_Mutation	SNP	A	TCGA-59-2354-01A-01W-0799-08	3081450	43025455	16103528	49	22683											
SYMPK	8189	broad.mit.edu	37	19	46338388	46338388	+	Silent	SNP	C	C	T			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr19:46338388C>T	ENST00000245934.7	-	11	1585	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	447					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.K447K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GAGCCAGGTGCTTGATCTGGG	0.627																																																1	Substitution - coding silent(1)	ovary(1)	19											81	72	76					19																	46338388		2203	4300	6503	51030228	SO:0001819	synonymous_variant	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1341G>A	19.37:g.46338388C>T			51030228	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																				0.627	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		T	46338388	C	T	46338388	2	4	414	1	0	0	0	0	0	0	0	1	15439	796	28	2		2	SYMPK	19	46338388	Silent	SNP	C	TCGA-59-2354-01A-01W-0799-08	3312933	46338388	12790595	50	22684											
ZNF415	55786	broad.mit.edu	37	19	53619603	53619603	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2354-01A-01W-0799-08	TCGA-59-2354-11A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cd72c0cb-1455-4d99-bb29-a770880c194f	4cd40c80-2565-4365-8f0f-47a4145f75cf	g.chr19:53619603A>C	ENST00000500065.4	-	3	432	c.99T>G	c.(97-99)gaT>gaG	p.D33E	ZNF415_ENST00000595193.1_Missense_Mutation_p.D33E|ZNF415_ENST00000421033.1_Missense_Mutation_p.C13G|ZNF415_ENST00000594011.1_Missense_Mutation_p.D33E|ZNF415_ENST00000599261.1_Missense_Mutation_p.D33E|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000448501.1_Missense_Mutation_p.C13G|ZNF415_ENST00000597748.1_Missense_Mutation_p.D33E|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000595813.1_Missense_Mutation_p.D33E|ZNF415_ENST00000600574.1_Missense_Mutation_p.D33E|ZNF415_ENST00000455735.2_Missense_Mutation_p.C13G|ZNF415_ENST00000243643.4_Missense_Mutation_p.D33E|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000597503.1_Missense_Mutation_p.D33E	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D33E(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCAACATCACATCCCTGTATA	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											123	121	122					19																	53619603		2203	4300	6503	58311415	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.99T>G	19.37:g.53619603A>C	ENSP00000439435:p.Asp33Glu		58311415	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.132|0.132	-1.112001|-1.112001	0.01813|0.01813	.|.	.|.	ENSG00000170954|ENSG00000170954	ENST00000448501;ENST00000421033;ENST00000455735|ENST00000243643;ENST00000500065	T;T;T|T;T	0.12984|0.02258	2.63;3.04;2.63|4.37;4.37	2.95|2.95	-5.91|-5.91	0.02269|0.02269	.|.	.|.	.|.	.|.	.|.	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;B;B|P;D	0.02656|0.61697	0.0;0.0;0.0|0.835;0.99	B;B;B|B;D	0.01281|0.72625	0.0;0.0;0.0|0.284;0.978	T|T	0.54105|0.54105	-0.8343|-0.8343	9|9	0.56958|0.34782	D|T	0.05|0.22	.|.	4.7647|4.7647	0.13127|0.13127	0.4698:0.3165:0.2136:0.0|0.4698:0.3165:0.2136:0.0	.|.	13;13;13|33;33	B3KTG1;Q09FC8;Q09FC8-2|F5H287;Q09FC8-5	.;ZN415_HUMAN;.|.;.	G|E	13|33	ENSP00000396492:C13G;ENSP00000395055:C13G;ENSP00000388787:C13G|ENSP00000243643:D33E;ENSP00000439435:D33E	ENSP00000395055:C13G|ENSP00000243643:D33E	C|D	-|-	1|3	0|2	ZNF415|ZNF415	58311415|58311415	0.001000|0.001000	0.12720|0.12720	0.969000|0.969000	0.41365|0.41365	0.959000|0.959000	0.62525|0.62525	-2.735000|-2.735000	0.00802|0.00802	-0.952000|-0.952000	0.03649|0.03649	-0.381000|-0.381000	0.06696|0.06696	TGT|GAT		0.438	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		C	53619603	A	C	53619603	3	2	414	1	0	0	0	0	1	0	0	0	17892	214	8	5	1576	5	ZNF415	19	53619603	Missense_Mutation	SNP	A	TCGA-59-2354-01A-01W-0799-08	7281215	53619603	5509380	51	22685											
HIVEP3	59269	broad.mit.edu	37	1	42049463	42049463	+	Nonsense_Mutation	SNP	C	C	A	rs138035647	byFrequency	TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr1:42049463C>A	ENST00000372583.1	-	4	1891	c.1006G>T	c.(1006-1008)Gaa>Taa	p.E336*	HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.E336*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.E336*|HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.E336*	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	336	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E336*(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGGGTCTTCGAGTGACTGG	0.587																																																1	Substitution - Nonsense(1)	ovary(1)	1											88	94	92					1																	42049463		2203	4300	6503	41822050	SO:0001587	stop_gained	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1006G>T	1.37:g.42049463C>A	ENSP00000361664:p.Glu336*		41822050	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	41	9.135593	0.99077	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.15	5.15	0.70609	.	0.000000	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-21.5693	18.4234	0.90600	0.0:1.0:0.0:0.0	.	.	.	.	X	336	.	ENSP00000247584:E336X	E	-	1	0	HIVEP3	41822050	0.981000	0.34729	0.978000	0.43139	0.310000	0.27922	2.575000	0.46025	2.689000	0.91719	0.655000	0.94253	GAA		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	42049463	C	A	42049463	4	1	415	1	0	0	0	0	0	1	0	0	7188	893	31	3	6238	3	HIVEP3	1	42049463	Nonsense_Mutation	SNP	C	TCGA-59-2355-01A-01W-0799-08		42049463	207201158	1	22686											
EIF2AK2	5610	broad.mit.edu	37	2	37341969	37341969	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr2:37341969C>T	ENST00000233057.4	-	14	1604	c.1282G>A	c.(1282-1284)Gta>Ata	p.V428I	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.V428I|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.V387I	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	428	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> E (in dbSNP:rs56219559). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)	p.V428I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CCAATCTTTACTTGTTTTGTA	0.323																																																1	Substitution - Missense(1)	ovary(1)	2											147	153	151					2																	37341969		2203	4300	6503	37195473	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.1282G>A	2.37:g.37341969C>T	ENSP00000233057:p.Val428Ile		37195473	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	0.307	-0.970449	0.02232	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334	T;T;T	0.51817	0.69;0.69;0.69	5.44	1.35	0.21983	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.181797	0.37715	N	0.001961	T	0.28665	0.0710	L	0.39020	1.185	0.28052	N	0.93333	B;B	0.02656	0.0;0.0	B;B	0.09377	0.0;0.004	T	0.32613	-0.9900	10	0.02654	T	1	-25.3736	8.5173	0.33253	0.0:0.3353:0.0:0.6647	.	428;387	P19525;E9PC80	E2AK2_HUMAN;.	I	428;428;387	ENSP00000233057:V428I;ENSP00000378559:V428I;ENSP00000385014:V387I	ENSP00000233057:V428I	V	-	1	0	EIF2AK2	37195473	0.016000	0.18221	0.363000	0.25875	0.651000	0.38670	-0.115000	0.10741	0.063000	0.16370	-0.247000	0.11927	GTA		0.323	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		T	37341969	C	T	37341969	3	4	415	1	0	0	0	0	1	0	0	0	4997	565	20	2	389	2	EIF2AK2	2	37341969	Missense_Mutation	SNP	C	TCGA-59-2355-01A-01W-0799-08		37341969	205857404	2	22687											
VARS2	57176	broad.mit.edu	37	6	30890923	30890923	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr6:30890923G>A	ENST00000321897.5	+	23	2860	c.2228G>A	c.(2227-2229)cGa>cAa	p.R743Q	VARS2_ENST00000416670.2_Missense_Mutation_p.R743Q|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.R603Q|VARS2_ENST00000541562.1_Missense_Mutation_p.R773Q			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	743					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R743Q(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CAGAGCTGCCGACATTTCTGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	6											100	106	104					6																	30890923		1511	2707	4218	30998902	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2228G>A	6.37:g.30890923G>A	ENSP00000316092:p.Arg743Gln		30998902	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627306	0.96671	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	M	0.92026	3.265	0.51767	D	0.999936	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.988;0.976;0.989;0.989	T	0.64711	-0.6343	10	0.87932	D	0	-15.9095	16.6685	0.85259	0.0:0.0:1.0:0.0	.	181;741;773;743	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	Q	743;743;603;773	ENSP00000316092:R743Q;ENSP00000394802:R743Q;ENSP00000438200:R603Q;ENSP00000441000:R773Q	ENSP00000316092:R743Q	R	+	2	0	VARS2	30998902	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	6.548000	0.73896	2.618000	0.88619	0.462000	0.41574	CGA		0.517	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		A	30890923	G	A	30890923	3	1	415	1	0	0	0	0	1	0	0	0	17124	1058	37	1	2412	1	VARS2	6	30890923	Missense_Mutation	SNP	G	TCGA-59-2355-01A-01W-0799-08		30890923	140224144	3	22688											
RIMS1	22999	broad.mit.edu	37	6	73043331	73043331	+	Missense_Mutation	SNP	C	C	T	rs201017334		TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr6:73043331C>T	ENST00000521978.1	+	29	4159	c.4159C>T	c.(4159-4161)Cgg>Tgg	p.R1387W	RIMS1_ENST00000401910.3_Missense_Mutation_p.R707W|RIMS1_ENST00000517960.1_Splice_Site_p.R1170W|RIMS1_ENST00000264839.7_Missense_Mutation_p.R1236W|RIMS1_ENST00000538414.1_Missense_Mutation_p.R193W|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1210W|RIMS1_ENST00000348717.5_Splice_Site_p.R1170W|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1387	Ser-rich.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R1387W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCAAGGCAGACGGATGGGGAC	0.418																																																2	Substitution - Missense(2)	ovary(1)|NS(1)	6						C	TRP/ARG,,,,TRP/ARG	1,3831		0,1,1915	53	51	52		2119,,,,4159	5.4	1	6		52	3,8265		0,3,4131	yes	missense,intron,intron,intron,missense	RIMS1	NM_001168407.1,NM_001168408.1,NM_001168409.1,NM_001168410.1,NM_014989.4	101,,,,101	0,4,6046	TT,TC,CC		0.0363,0.0261,0.0331	probably-damaging,,,,probably-damaging	707/1013,,,,1387/1693	73043331	4,12096	1916	4134	6050	73100052	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4159C>T	6.37:g.73043331C>T	ENSP00000428417:p.Arg1387Trp		73100052	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.911117|4.911117	0.92178|0.92178	2.61E-4|2.61E-4	3.63E-4|3.63E-4	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000517433	T;T;T;T;T;T;T;T;T|.	0.18960|.	2.44;2.53;2.52;2.53;2.52;2.6;2.42;2.18;2.18|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.64402|.	D|.	0.000019|.	T|T	0.56630|0.56630	0.1998|0.1998	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D;D;D|.	0.89917|.	0.998;1.0;0.997;0.993;1.0;0.999;1.0|.	P;D;P;P;D;P;D|.	0.78314|.	0.821;0.991;0.821;0.727;0.928;0.874;0.988|.	T|T	0.52283|0.52283	-0.8596|-0.8596	10|5	0.66056|.	D|.	0.02|.	-9.8877|-9.8877	19.5416|19.5416	0.95277|0.95277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	193;1236;707;1170;463;1210;1387|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	W|M	1210;1236;1210;1170;1236;1170;1387;707;552;435;193|732	ENSP00000430101:R1210W;ENSP00000275037:R1170W;ENSP00000264839:R1236W;ENSP00000429959:R1170W;ENSP00000428417:R1387W;ENSP00000385649:R707W;ENSP00000389503:R552W;ENSP00000359448:R435W;ENSP00000439730:R193W|.	ENSP00000264839:R1236W|.	R|T	+|+	1|2	2|0	RIMS1|RIMS1	73100052|73100052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.405000|7.405000	0.80007|0.80007	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	CGG|ACG		0.418	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			T	73043331	C	T	73043331	3	4	415	1	0	0	0	0	1	0	0	0	13370	527	19	1	4436	1	RIMS1	6	73043331	Missense_Mutation	SNP	C	TCGA-59-2355-01A-01W-0799-08	42152408	73043331	98071736	4	22689											
CSMD3	114788	broad.mit.edu	37	8	113314169	113314169	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr8:113314169G>T	ENST00000297405.5	-	53	8537	c.8293C>A	c.(8293-8295)Cct>Act	p.P2765T	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2596T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2695T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2725T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2765	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2765T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATTTGGAGGTGTAGGTAGT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											96	97	97					8																	113314169		2203	4300	6503	113383345	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8293C>A	8.37:g.113314169G>T	ENSP00000297405:p.Pro2765Thr		113383345	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817345	0.70912	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.61	5.61	0.85477	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.80391	0.4614	M	0.92923	3.36	0.58432	D	0.999999	P;P;D	0.54397	0.812;0.747;0.966	P;P;P	0.54270	0.481;0.615;0.747	T	0.80086	-0.1529	10	0.25106	T	0.35	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	2596;2765;2725	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	2725;2765;2035;2596;2695	ENSP00000345799:P2725T;ENSP00000297405:P2765T;ENSP00000341558:P2035T;ENSP00000412263:P2596T;ENSP00000343124:P2695T	ENSP00000297405:P2765T	P	-	1	0	CSMD3	113383345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.609000	0.67661	2.804000	0.96469	0.650000	0.86243	CCT		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113314169	G	T	113314169	3	4	415	1	0	0	0	0	1	0	0	0	3946	1261	44	3	2906	3	CSMD3	8	113314169	Missense_Mutation	SNP	G	TCGA-59-2355-01A-01W-0799-08		113314169	33049853	5	22690											
CYP11B1	1584	broad.mit.edu	37	8	143956507	143956507	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr8:143956507G>C	ENST00000292427.4	-	8	1296	c.1264C>G	c.(1264-1266)Cgc>Ggc	p.R422G	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R493G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	422					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R422G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGGTTATAGCGCTCAGGCCTC	0.637									Familial Hyperaldosteronism type I																																							1	Substitution - Missense(1)	ovary(1)	8											84	87	86					8																	143956507		2203	4300	6503	143953509	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1264C>G	8.37:g.143956507G>C	ENSP00000292427:p.Arg422Gly		143953509	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	13.72	2.322195	0.41096	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.70045	1.45;-0.45;-0.45	4.22	2.31	0.28768	.	0.393267	0.22009	N	0.065883	T	0.75939	0.3918	M	0.83223	2.63	0.39728	D	0.971561	D;D;P	0.54397	0.962;0.966;0.867	P;P;P	0.58266	0.824;0.836;0.588	T	0.75814	-0.3185	10	0.48119	T	0.1	.	7.3258	0.26555	0.1:0.0:0.7288:0.1712	.	493;422;422	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	G	100;422;493	ENSP00000430144:R100G;ENSP00000292427:R422G;ENSP00000366903:R493G	ENSP00000292427:R422G	R	-	1	0	CYP11B1	143953509	0.993000	0.37304	0.997000	0.53966	0.299000	0.27559	1.995000	0.40767	0.863000	0.35553	0.561000	0.74099	CGC		0.637	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			C	143956507	G	C	143956507	3	2	415	1	0	0	0	0	1	0	0	0	4145	1087	38	3	255	3	CYP11B1	8	143956507	Missense_Mutation	SNP	G	TCGA-59-2355-01A-01W-0799-08	30642338	143956507	2407515	6	22691											
KDM4C	23081	broad.mit.edu	37	9	7169927	7169927	+	Intron	SNP	G	G	C			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr9:7169927G>C	ENST00000381309.3	+	21	3559				KDM4C_ENST00000428870.2_Intron|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.V1011L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GACCTGCCAAGTGAATTCCTT	0.433																																																0			9											49	43	45					9																	7169927		2203	4300	6503	7159927	SO:0001627	intron_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2994+37G>C	9.37:g.7169927G>C			7159927	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289152	0.23478	.	.	ENSG00000107077	ENST00000381306	T	0.15372	2.43	4.58	0.307	0.15811	.	.	.	.	.	T	0.08447	0.0210	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39165	-0.9627	7	.	.	.	.	4.9386	0.13954	0.2659:0.0:0.5855:0.1486	.	1011	Q9H3R0-2	.	L	1011	ENSP00000370707:V1011L	.	V	+	1	0	KDM4C	7159927	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.077000	0.11394	0.255000	0.21593	0.467000	0.42956	GTG		0.433	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		C	7169927	G	C	7169927	1	2	415	0	1	0	0	0	0	0	0	0	8130	1029	36	3		3	KDM4C	9	7169927	Intron	SNP	G	TCGA-59-2355-01A-01W-0799-08		7169927	134043504	7	22692											
CCAR1	55749	broad.mit.edu	37	10	70515218	70515218	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr10:70515218C>A	ENST00000265872.6	+	13	1669	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000543719.1_Missense_Mutation_p.P502H|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.P502H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	517					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.P517H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GAAAAAGATCCCTCTGTGTTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	10											218	212	214					10																	70515218		2203	4300	6503	70185224	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1550C>A	10.37:g.70515218C>A	ENSP00000265872:p.Pro517His		70185224	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659629	0.47572	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	M	0.84683	2.71	0.58432	D	0.999999	D;D;D	0.76494	0.995;0.999;0.999	P;D;D	0.70487	0.874;0.969;0.926	T	0.77178	-0.2683	10	0.87932	D	0	-6.953	19.8722	0.96854	0.0:1.0:0.0:0.0	.	502;517;491	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	517;502;502;502;491;322	ENSP00000265872:P517H;ENSP00000441820:P502H;ENSP00000445254:P502H;ENSP00000439252:P502H;ENSP00000438610:P491H;ENSP00000439642:P322H	ENSP00000265872:P517H	P	+	2	0	CCAR1	70185224	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.745000	0.85046	2.700000	0.92200	0.585000	0.79938	CCC		0.428	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		A	70515218	C	A	70515218	3	1	415	1	0	0	0	0	1	0	0	0	2730	623	22	3	1596	3	CCAR1	10	70515218	Missense_Mutation	SNP	C	TCGA-59-2355-01A-01W-0799-08		70515218	65019529	8	22693											
ATN1	1822	broad.mit.edu	37	12	7044854	7044854	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr12:7044854G>A	ENST00000356654.4	+	5	661	c.424G>A	c.(424-426)Gag>Aag	p.E142K	ATN1_ENST00000396684.2_Missense_Mutation_p.E142K	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	142					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.E142K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGAAGTGTGGAGAATGACTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	12											184	134	151					12																	7044854		2203	4300	6503	6915115	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.424G>A	12.37:g.7044854G>A	ENSP00000349076:p.Glu142Lys		6915115	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.521666	0.85600	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.69926	-0.44;-0.44;-0.44	3.77	3.77	0.43336	.	0.000000	0.32068	U	0.006635	T	0.71221	0.3314	L	0.32530	0.975	0.53005	D	0.999964	D;D	0.71674	0.998;0.995	D;D	0.74348	0.983;0.963	T	0.67102	-0.5755	10	0.20046	T	0.44	.	16.1802	0.81892	0.0:0.0:1.0:0.0	.	142;142	Q86V38;P54259	.;ATN1_HUMAN	K	142	ENSP00000349076:E142K;ENSP00000379915:E142K;ENSP00000441744:E142K	ENSP00000349076:E142K	E	+	1	0	ATN1	6915115	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.381000	0.97205	2.112000	0.64535	0.454000	0.30748	GAG		0.607	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7044854	G	A	7044854	3	1	415	1	0	0	0	0	1	0	0	0	1111	1175	41	2	438	2	ATN1	12	7044854	Missense_Mutation	SNP	G	TCGA-59-2355-01A-01W-0799-08		7044854	126807041	9	22694											
UGGT2	55757	broad.mit.edu	37	13	96536926	96536926	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr13:96536926C>T	ENST00000376747.3	-	27	3117	c.3047G>A	c.(3046-3048)cGt>cAt	p.R1016H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1016					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.R1016H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CAGAACAAAACGGTAAAAGCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	13											60	57	58					13																	96536926		2203	4300	6503	95334927	SO:0001583	missense	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3047G>A	13.37:g.96536926C>T	ENSP00000365938:p.Arg1016His		95334927	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715069	0.89112	.	.	ENSG00000102595	ENST00000376747	T	0.44083	0.93	5.97	5.97	0.96955	.	0.055638	0.85682	D	0.000000	T	0.76506	0.3997	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.82099	-0.0625	10	0.87932	D	0	-13.6687	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1016;1016	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	H	1016	ENSP00000365938:R1016H	ENSP00000365938:R1016H	R	-	2	0	UGGT2	95334927	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.743000	0.68655	2.836000	0.97738	0.655000	0.94253	CGT		0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		T	96536926	C	T	96536926	3	4	415	1	0	0	0	0	1	0	0	0	16942	536	19	1	1555	1	UGGT2	13	96536926	Missense_Mutation	SNP	C	TCGA-59-2355-01A-01W-0799-08		96536926	18632952	10	22695											
PIGH	5283	broad.mit.edu	37	14	68060621	68060621	+	Missense_Mutation	SNP	G	G	A	rs370375274		TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr14:68060621G>A	ENST00000216452.4	-	2	312	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	PIGH_ENST00000560722.1_Missense_Mutation_p.L77F|PIGH_ENST00000559581.1_Intron	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	77					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.L77F(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		AGATAACCAAGCAGACCTAAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	14						G	PHE/LEU	0,4406		0,0,2203	62	56	58		229	6.1	1	14		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIGH	NM_004569.3	22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	77/189	68060621	1,13005	2203	4300	6503	67130374	SO:0001583	missense	5283				CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8964	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase subunit"	600154	"phosphatidylinositol glycan, class H"			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.229C>T	14.37:g.68060621G>A	ENSP00000216452:p.Leu77Phe		67130374	B2RAA4	Missense_Mutation	SNP	ENST00000216452.4	37	CCDS9784.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745490	0.69418	0.0	1.16E-4	ENSG00000100564	ENST00000216452	.	.	.	6.08	6.08	0.98989	.	0.314687	0.34777	N	0.003698	T	0.39989	0.1099	N	0.19112	0.55	0.80722	D	1	P;P	0.40476	0.718;0.718	B;B	0.36885	0.235;0.168	T	0.39901	-0.9591	9	0.59425	D	0.04	.	16.2633	0.82562	0.0:0.0:0.8596:0.1404	.	77;77	B4DEE2;Q14442	.;PIGH_HUMAN	F	77	.	ENSP00000216452:L77F	L	-	1	0	PIGH	67130374	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.840000	0.48215	2.894000	0.99253	0.655000	0.94253	CTT		0.433	PIGH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415189.2	NM_004569		A	68060621	G	A	68060621	3	1	415	1	0	0	0	0	1	0	0	0	11889	971	34	2	349	2	PIGH	14	68060621	Missense_Mutation	SNP	G	TCGA-59-2355-01A-01W-0799-08		68060621	39288919	11	22696											
ZFYVE26	23503	broad.mit.edu	37	14	68274475	68274475	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr14:68274475G>C	ENST00000347230.4	-	5	664	c.526C>G	c.(526-528)Ctt>Gtt	p.L176V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L176V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	176					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L176I(1)|p.L176V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCTCCTCAAGCAGGAGCTCC	0.607																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	14											110	113	112					14																	68274475		2203	4300	6503	67344228	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.526C>G	14.37:g.68274475G>C	ENSP00000251119:p.Leu176Val		67344228	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527638	0.27299	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27256	1.83;1.68	5.83	4.01	0.46588	.	0.373630	0.28332	N	0.015731	T	0.25344	0.0616	M	0.62723	1.935	0.34006	D	0.650885	P;P;B	0.42692	0.634;0.787;0.22	B;B;B	0.36666	0.124;0.23;0.024	T	0.39761	-0.9598	10	0.35671	T	0.21	-3.6563	12.9282	0.58272	0.112:0.0:0.888:0.0	.	176;176;176	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	V	176	ENSP00000251119:L176V;ENSP00000450603:L176V	ENSP00000251119:L176V	L	-	1	0	ZFYVE26	67344228	1.000000	0.71417	0.959000	0.39883	0.678000	0.39670	4.999000	0.63934	0.813000	0.34350	0.591000	0.81541	CTT		0.607	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		C	68274475	G	C	68274475	3	2	415	1	0	0	0	0	1	0	0	0	17668	971	34	3	7245	3	ZFYVE26	14	68274475	Missense_Mutation	SNP	G	TCGA-59-2355-01A-01W-0799-08	213854	68274475	39075065	12	22697											
EIF2B2	8892	broad.mit.edu	37	14	75475852	75475852	+	Silent	SNP	G	G	A			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr14:75475852G>A	ENST00000266126.5	+	8	1097	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	339					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.L339L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TCTACCGCCTGATGAGTGAAC	0.478																																																1	Substitution - coding silent(1)	ovary(1)	14											346	283	304					14																	75475852		2203	4300	6503	74545605	SO:0001819	synonymous_variant	8892				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.1017G>A	14.37:g.75475852G>A			74545605	O43201	Silent	SNP	ENST00000266126.5	37	CCDS9836.1																																																																																				0.478	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		A	75475852	G	A	75475852	2	1	415	1	0	0	0	0	0	0	0	1	5001	1277	45	2		2	EIF2B2	14	75475852	Silent	SNP	G	TCGA-59-2355-01A-01W-0799-08	7201377	75475852	31873688	13	22698											
SCNN1G	6340	broad.mit.edu	37	16	23208729	23208729	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr16:23208729C>A	ENST00000300061.2	+	6	1201	c.1058C>A	c.(1057-1059)aCc>aAc	p.T353N	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	353					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.T353N(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCAATGGTCACCTCTATAGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	16											118	110	112					16																	23208729		2197	4300	6497	23116230	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1058C>A	16.37:g.23208729C>A	ENSP00000300061:p.Thr353Asn		23116230	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186978	0.78789	.	.	ENSG00000166828	ENST00000300061	T	0.69175	-0.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.84844	0.5562	M	0.87827	2.91	0.44048	D	0.996781	D	0.89917	1.0	D	0.91635	0.999	D	0.86999	0.2115	10	0.87932	D	0	-7.1759	18.6399	0.91392	0.0:1.0:0.0:0.0	.	353	P51170	SCNNG_HUMAN	N	353	ENSP00000300061:T353N	ENSP00000300061:T353N	T	+	2	0	SCNN1G	23116230	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.359000	0.66074	2.662000	0.90505	0.655000	0.94253	ACC		0.458	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		A	23208729	C	A	23208729	3	1	415	1	0	0	0	0	1	0	0	0	13933	507	18	3	1076	3	SCNN1G	16	23208729	Missense_Mutation	SNP	C	TCGA-59-2355-01A-01W-0799-08		23208729	67146024	14	22699											
MAZ	4150	broad.mit.edu	37	16	29820861	29820861	+	Intron	SNP	G	G	C			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr16:29820861G>C	ENST00000322945.6	+	5	1444				AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000562337.1_Intron|PRRT2_ENST00000300797.6_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Splice_Site_p.G427A|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000566906.2_Intron|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000545521.1_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000568282.1_Splice_Site_p.G28A|AC009133.14_ENST00000569981.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G427A(1)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCCCAATAGGCTTCACCACG	0.687																																					Colon(72;875 1167 15364 30899 37091)											1	Substitution - Missense(1)	ovary(1)	16											21	22	22					16																	29820861		1973	4119	6092	29728362	SO:0001627	intron_variant	4150			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1280-537G>C	16.37:g.29820861G>C			29728362	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658745	0.47467	.	.	ENSG00000103495	ENST00000219782	T	0.01474	4.85	3.82	2.84	0.33178	.	0.330947	0.26742	U	0.022736	T	0.01287	0.0042	N	0.12443	0.215	0.38461	D	0.947216	B	0.17038	0.02	B	0.19666	0.026	T	0.56854	-0.7910	9	.	.	.	.	11.2822	0.49201	0.0:0.187:0.813:0.0	.	427	G5E927	.	A	427	ENSP00000219782:G427A	.	G	+	2	0	MAZ	29728362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.642000	0.74329	0.963000	0.38082	0.561000	0.74099	GGC		0.687	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		C	29820861	G	C	29820861	1	2	415	0	1	0	0	0	0	0	0	0	9340	1217	42	3		3	MAZ	16	29820861	Intron	SNP	G	TCGA-59-2355-01A-01W-0799-08	6612132	29820861	60533892	15	22700											
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	A	rs11575997		TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr17:7576852C>A	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron	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						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.?(24)|p.0?(8)|p.I332fs*49(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)	AGACTTAGTACCTGAAGGGTG	0.458		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"	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	17	GRCh37	CD002536	TP53	D	rs11575997						115	108	111					17																	7576852		2203	4300	6503	7517577	SO:0001630	splice_region_variant	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.993+1G>T	17.37:g.7576852C>A			7517577	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301218	0.40694	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	rs11575997	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7576852	C	A	7576852	5	1	415	1	0	0	0	0	0	0	1	0	16381	521	18	3	288	3	TP53	17	7576852	Splice_Site	SNP	C	TCGA-59-2355-01A-01W-0799-08		7576852	73618358	16	22701											
RDM1	201299	broad.mit.edu	37	17	34251748	34251748	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr17:34251748C>A	ENST00000293273.6	-	4	473	c.428G>T	c.(427-429)aGg>aTg	p.R143M	RDM1_ENST00000431884.2_Missense_Mutation_p.R143M|RDM1_ENST00000394529.3_Missense_Mutation_p.R120M|RDM1_ENST00000394528.3_Missense_Mutation_p.R143M|RDM1_ENST00000419453.2_Missense_Mutation_p.R120M|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000430160.2_Missense_Mutation_p.R120M|RDM1_ENST00000394527.1_Intron|RDM1_ENST00000425909.3_Intron	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	143					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R143M(1)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCATTTTCCCTTTCTTCAAG	0.428								Other identified genes with known or suspected DNA repair function																																								1	Substitution - Missense(1)	ovary(1)	17											80	75	77					17																	34251748		2203	4300	6503	31275861	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.428G>T	17.37:g.34251748C>A	ENSP00000293273:p.Arg143Met		31275861	A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	C	8.654	0.898998	0.17686	.	.	ENSG00000187456	ENST00000293273;ENST00000419453;ENST00000394529;ENST00000431884;ENST00000430160;ENST00000394528	T;T;T;T;T	0.30448	1.53;1.53;1.54;1.53;1.53	3.29	0.0447	0.14227	.	0.987576	0.08255	N	0.974026	T	0.37348	0.1000	L	0.51422	1.61	0.09310	N	0.999994	D;D;D;D;D;D	0.56287	0.975;0.969;0.969;0.975;0.975;0.969	P;P;P;P;P;P	0.56216	0.766;0.563;0.794;0.69;0.69;0.794	T	0.24368	-1.0162	10	0.52906	T	0.07	-0.7718	4.0189	0.09657	0.0:0.3683:0.3907:0.241	.	120;143;120;143;143;120	B4DZ74;Q8NG50-5;Q8NG50-2;A8MY68;Q8NG50;Q8NG50-6	.;.;.;.;RDM1_HUMAN;.	M	143;22;120;143;120;143	ENSP00000293273:R143M;ENSP00000378037:R120M;ENSP00000391290:R143M;ENSP00000413421:R120M;ENSP00000378036:R143M	ENSP00000293273:R143M	R	-	2	0	RDM1	31275861	0.060000	0.20803	0.591000	0.28745	0.160000	0.22226	0.346000	0.19997	0.207000	0.20607	0.585000	0.79938	AGG		0.428	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		A	34251748	C	A	34251748	3	1	415	1	0	0	0	0	1	0	0	0	13200	681	24	3	486	3	RDM1	17	34251748	Missense_Mutation	SNP	C	TCGA-59-2355-01A-01W-0799-08	26674896	34251748	46943462	17	22702											
LMNB2	84823	broad.mit.edu	37	19	2432480	2432480	+	Silent	SNP	C	C	T			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr19:2432480C>T	ENST00000582871.1	-	9	1550	c.1464G>A	c.(1462-1464)ttG>ttA	p.L488L	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Silent_p.L508L	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	488	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)	p.L488L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCCCTCCAAGACCTGCC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19											288	213	239					19																	2432480		2203	4300	6503	2383480	SO:0001819	synonymous_variant	84823			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1464G>A	19.37:g.2432480C>T			2383480	O75292|Q14734|Q96DF6	Silent	SNP	ENST00000582871.1	37																																																																																					0.632	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		T	2432480	C	T	2432480	2	4	415	1	0	0	0	0	0	0	0	1	8850	593	21	2		2	LMNB2	19	2432480	Silent	SNP	C	TCGA-59-2355-01A-01W-0799-08		2432480	56696503	18	22703											
CALR	811	broad.mit.edu	37	19	13051239	13051239	+	Silent	SNP	C	C	T	rs139658454		TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chr19:13051239C>T	ENST00000316448.5	+	5	748	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	225	4 X approximate repeats.|P-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.I225I(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GGGCCAAGATCGATGATCCCA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19						C		1,4405	2.1+/-5.4	0,1,2202	54	59	57		675	-8.2	0.6	19	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	CALR	NM_004343.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		225/418	13051239	1,13005	2203	4300	6503	12912239	SO:0001819	synonymous_variant	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.675C>T	19.37:g.13051239C>T			12912239	Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	CCDS12288.1																																																																																				0.547	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		T	13051239	C	T	13051239	2	4	415	1	0	0	0	0	0	0	0	1	2592	874	31	1		1	CALR	19	13051239	Silent	SNP	C	TCGA-59-2355-01A-01W-0799-08	10618759	13051239	46077744	19	22704											
ARHGEF9	23229	broad.mit.edu	37	X	62898374	62898374	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2355-01A-01W-0799-08	TCGA-59-2355-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	4f44adec-ec93-43a0-9d08-89ee20023d68	0f60a262-45e2-4f35-b0f3-1d75bd0c4b7c	g.chrX:62898374C>T	ENST00000253401.6	-	5	1440	c.640G>A	c.(640-642)Gac>Aac	p.D214N	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D212N|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D112N|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D193N|ARHGEF9_ENST00000433323.2_5'Flank|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D161N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	214	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D212N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAGCGGCTGTCCTTCATCAGT	0.463																																																1	Substitution - Missense(1)	ovary(1)	X											72	54	60					X																	62898374		2203	4300	6503	62815099	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.640G>A	X.37:g.62898374C>T	ENSP00000253401:p.Asp214Asn		62815099	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336356	0.41398	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.053091	0.64402	D	0.000001	T	0.43634	0.1256	N	0.11927	0.2	0.80722	D	1	B;B;B;B	0.16396	0.017;0.017;0.017;0.007	B;B;B;B	0.17433	0.018;0.01;0.018;0.018	T	0.34601	-0.9822	10	0.12766	T	0.61	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	161;212;214;214	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	N	214;212;161;112;193	ENSP00000253401:D214N;ENSP00000364012:D212N;ENSP00000399994:D161N;ENSP00000364004:D112N;ENSP00000364006:D193N	ENSP00000253401:D214N	D	-	1	0	ARHGEF9	62815099	1.000000	0.71417	0.961000	0.40146	0.839000	0.47603	5.502000	0.66956	2.087000	0.62958	0.600000	0.82982	GAC		0.463	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			T	62898374	C	T	62898374	3	4	415	1	0	0	0	0	1	0	0	0	912	855	30	2	934	2	ARHGEF9	23	62898374	Missense_Mutation	SNP	C	TCGA-59-2355-01A-01W-0799-08		62898374	92372186	20	22705											
KIAA0754	643314	broad.mit.edu	37	1	39879392	39879392	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr1:39879392C>T	ENST00000530275.1	+	1	3242	c.3047C>T	c.(3046-3048)aCc>aTc	p.T1016I	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1016	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGTGCCCACCCCAGAGGAA	0.682																																																0			1											15	19	18					1																	39879392		1915	4128	6043	39651979	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3047C>T	1.37:g.39879392C>T	ENSP00000431179:p.Thr1016Ile		39651979	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	N	15.77	2.931694	0.52866	.	.	ENSG00000255103	ENST00000530275	T	0.24151	1.87	5.07	-0.262	0.12958	.	.	.	.	.	T	0.27419	0.0673	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.15378	-1.0439	9	0.56958	D	0.05	.	5.508	0.16864	0.0:0.5349:0.1371:0.328	.	1016	O94854	K0754_HUMAN	I	1016	ENSP00000431179:T1016I	ENSP00000431179:T1016I	T	+	2	0	RP4-562N20.1	39651979	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.391000	0.07323	-0.060000	0.13132	0.498000	0.49722	ACC		0.682	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		T	39879392	C	T	39879392	3	4	416	1	0	0	0	0	1	0	0	0	8192	507	18	2	3457	2	KIAA0754	1	39879392	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08		39879392	209371229	1	22706											
OR10T2	128360	broad.mit.edu	37	1	158369202	158369202	+	Missense_Mutation	SNP	A	A	G	rs147666373		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr1:158369202A>G	ENST00000334438.1	-	1	54	c.55T>C	c.(55-57)Tcc>Ccc	p.S19P		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S19P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCCAGGCTGGAGAAACCCACC	0.453																																																1	Substitution - Missense(1)	ovary(1)	1						A	PRO/SER	0,4406		0,0,2203	34	38	37		55	4.7	1	1	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10T2	NM_001004475.1	74	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	19/315	158369202	1,13005	2203	4300	6503	156635826	SO:0001583	missense	128360			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.55T>C	1.37:g.158369202A>G	ENSP00000334115:p.Ser19Pro		156635826	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625638	0.66901	0.0	1.16E-4	ENSG00000186306	ENST00000334438	T	0.00617	6.19	4.65	4.65	0.58169	.	0.000000	0.37761	U	0.001958	T	0.01254	0.0041	M	0.63169	1.94	0.25448	N	0.988033	D	0.89917	1.0	D	0.91635	0.999	T	0.45644	-0.9247	10	0.59425	D	0.04	.	13.1803	0.59651	1.0:0.0:0.0:0.0	.	19	Q8NGX3	O10T2_HUMAN	P	19	ENSP00000334115:S19P	ENSP00000334115:S19P	S	-	1	0	OR10T2	156635826	0.000000	0.05858	0.998000	0.56505	0.937000	0.57800	-0.360000	0.07622	1.939000	0.56221	0.482000	0.46254	TCC		0.453	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		G	158369202	A	G	158369202	3	3	416	1	0	0	0	0	1	0	0	0	10919	304	11	4	891	4	OR10T2	1	158369202	Missense_Mutation	SNP	A	TCGA-59-2363-01A-01W-0799-08	118489810	158369202	90881419	2	22707											
F5	2153	broad.mit.edu	37	1	169519083	169519083	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr1:169519083G>T	ENST00000367797.3	-	10	1768	c.1567C>A	c.(1567-1569)Ctt>Att	p.L523I	F5_ENST00000367796.3_Missense_Mutation_p.L523I|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	523	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.L523I(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CAGATTAGAAGTAGTCCTATT	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											154	141	146					1																	169519083		2203	4300	6503	167785707	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1567C>A	1.37:g.169519083G>T	ENSP00000356771:p.Leu523Ile		167785707	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504434	0.85176	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99270	-5.66;-5.66	5.71	5.71	0.89125	Cupredoxin (2);	0.070004	0.56097	D	0.000022	D	0.98963	0.9647	L	0.55834	1.745	0.38861	D	0.956475	D	0.62365	0.991	P	0.57101	0.813	D	0.99860	1.1082	9	0.72032	D	0.01	-20.6682	19.8398	0.96678	0.0:0.0:1.0:0.0	.	523	P12259	FA5_HUMAN	I	523	ENSP00000356771:L523I;ENSP00000356770:L523I	ENSP00000356770:L523I	L	-	1	0	F5	167785707	1.000000	0.71417	0.821000	0.32701	0.982000	0.71751	5.082000	0.64450	2.697000	0.92050	0.655000	0.94253	CTT		0.428	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		T	169519083	G	T	169519083	3	4	416	1	0	0	0	0	1	0	0	0	5348	1029	36	3	5171	3	F5	1	169519083	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	11149881	169519083	79731538	3	22708											
NPAS2	4862	broad.mit.edu	37	2	101564740	101564740	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr2:101564740A>G	ENST00000335681.5	+	6	692	c.407A>G	c.(406-408)cAa>cGa	p.Q136R	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.Q201R	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	136	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q136R(2)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCCAGAACAAGAACATTCA	0.358																																																2	Substitution - Missense(2)	ovary(2)	2											113	110	111					2																	101564740		2203	4300	6503	100931172	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.407A>G	2.37:g.101564740A>G	ENSP00000338283:p.Gln136Arg		100931172	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.26|13.26	2.184786|2.184786	0.38609|0.38609	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000427413|ENST00000335681;ENST00000542504	.|T;T	.|0.16324	.|2.35;2.35	4.97|4.97	4.97|4.97	0.65823|0.65823	.|PAS (3);PAS fold (1);	.|0.060448	.|0.64402	.|D	.|0.000002	T|T	0.08179|0.08179	0.0204|0.0204	N|N	0.03238|0.03238	-0.38|-0.38	0.45490|0.45490	D|D	0.99845|0.99845	.|B;B	.|0.23442	.|0.069;0.085	.|B;B	.|0.24155	.|0.051;0.03	T|T	0.29427|0.29427	-1.0012|-1.0012	5|10	.|0.13108	.|T	.|0.6	.|.	14.8137|14.8137	0.70013|0.70013	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|201;136	.|F5H027;Q99743	.|.;NPAS2_HUMAN	E|R	202|136;201	.|ENSP00000338283:Q136R;ENSP00000438428:Q201R	.|ENSP00000338283:Q136R	K|Q	+|+	1|2	0|0	NPAS2|NPAS2	100931172|100931172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.293000|6.293000	0.72731|0.72731	2.077000|2.077000	0.62373|0.62373	0.528000|0.528000	0.53228|0.53228	AAG|CAA		0.358	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			G	101564740	A	G	101564740	3	3	416	1	0	0	0	0	1	0	0	0	10563	130	5	4	425	4	NPAS2	2	101564740	Missense_Mutation	SNP	A	TCGA-59-2363-01A-01W-0799-08		101564740	141634633	4	22709											
IL1RL2	8808	broad.mit.edu	37	2	102851677	102851677	+	Missense_Mutation	SNP	A	A	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr2:102851677A>T	ENST00000264257.2	+	11	1744	c.1618A>T	c.(1618-1620)Agg>Tgg	p.R540W	IL1RL2_ENST00000539491.1_Missense_Mutation_p.R540W|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.R422W	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	540					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.R540W(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GCCGCCCAGAAGGTGTCGGCC	0.587											OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											78	71	74					2																	102851677		2203	4300	6503	102218109	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1618A>T	2.37:g.102851677A>T	ENSP00000264257:p.Arg540Trp	1369	102218109	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571086	0.65765	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.04083	3.93;3.71;3.93	4.92	0.596	0.17496	.	0.788457	0.11976	N	0.511249	T	0.10035	0.0246	N	0.19112	0.55	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	T	0.35674	-0.9779	10	0.87932	D	0	.	11.1586	0.48501	0.5508:0.4491:0.0:0.0	.	422;540	A4FU63;Q9HB29	.;ILRL2_HUMAN	W	540;422;540	ENSP00000264257:R540W;ENSP00000413348:R422W;ENSP00000442184:R540W	ENSP00000264257:R540W	R	+	1	2	IL1RL2	102218109	0.001000	0.12720	0.012000	0.15200	0.024000	0.10985	0.548000	0.23314	0.261000	0.21753	0.482000	0.46254	AGG		0.587	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		T	102851677	A	T	102851677	3	4	416	1	0	0	0	0	1	0	0	0	7664	63	3	5	1656	5	IL1RL2	2	102851677	Missense_Mutation	SNP	A	TCGA-59-2363-01A-01W-0799-08	1286937	102851677	140347696	5	22710											
COL3A1	1281	broad.mit.edu	37	2	189854859	189854859	+	Missense_Mutation	SNP	G	G	A	rs587779629		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr2:189854859G>A	ENST00000304636.3	+	9	898	c.728G>A	c.(727-729)gGa>gAa	p.G243E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G243E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	243	Triple-helical region.		G -> V (in EDS4).		aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G243E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGAGAGCGAGGATTGCCTGGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	2	GRCh37	CM000319	COL3A1	M							66	69	68					2																	189854859		2203	4300	6503	189563104	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.728G>A	2.37:g.189854859G>A	ENSP00000304408:p.Gly243Glu		189563104	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670361	0.67814	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99353	-5.77;-5.52	5.68	5.68	0.88126	.	0.000000	0.50627	D	0.000115	D	0.99725	0.9893	H	0.99719	4.725	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	D	0.97225	0.9880	10	0.87932	D	0	.	13.3815	0.60770	0.0722:0.0:0.9278:0.0	.	243	P02461	CO3A1_HUMAN	E	243	ENSP00000304408:G243E;ENSP00000315243:G243E	ENSP00000304408:G243E	G	+	2	0	COL3A1	189563104	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.329000	0.79170	2.838000	0.97847	0.591000	0.81541	GGA		0.368	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		A	189854859	G	A	189854859	3	1	416	1	0	0	0	0	1	0	0	0	3688	1174	41	2	762	2	COL3A1	2	189854859	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	87003182	189854859	53344514	6	22711											
PLCL1	5334	broad.mit.edu	37	2	198950032	198950032	+	Silent	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr2:198950032C>T	ENST00000428675.1	+	2	2189	c.1791C>T	c.(1789-1791)taC>taT	p.Y597Y	PLCL1_ENST00000437704.2_Silent_p.Y499Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	597	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Y499Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTTCAATACAGGGATTTTG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	2											68	71	70					2																	198950032		2203	4300	6503	198658277	SO:0001819	synonymous_variant	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1791C>T	2.37:g.198950032C>T			198658277	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	CCDS2326.2																																																																																				0.413	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		T	198950032	C	T	198950032	2	4	416	1	0	0	0	0	0	0	0	1	12039	489	17	2		2	PLCL1	2	198950032	Silent	SNP	C	TCGA-59-2363-01A-01W-0799-08	9095173	198950032	44249341	7	22712											
SPATS2L	26010	broad.mit.edu	37	2	201342609	201342609	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr2:201342609G>C	ENST00000358677.5	+	13	1779	c.1532G>C	c.(1531-1533)aGg>aCg	p.R511T	SPATS2L_ENST00000360760.5_Missense_Mutation_p.R442T|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409385.1_Missense_Mutation_p.R451T|SPATS2L_ENST00000409140.3_Missense_Mutation_p.R511T|SPATS2L_ENST00000409755.3_Missense_Mutation_p.R541T|SPATS2L_ENST00000409151.1_Missense_Mutation_p.R519T|SPATS2L_ENST00000409718.1_Missense_Mutation_p.R511T|SPATS2L_ENST00000451764.2_Missense_Mutation_p.R511T|SPATS2L_ENST00000409988.3_Missense_Mutation_p.R511T	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	511						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.R511T(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CCCCGGCGAAGGCAGCACGCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											15	17	16					2																	201342609		1896	4126	6022	201050854	SO:0001583	missense	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1532G>C	2.37:g.201342609G>C	ENSP00000351503:p.Arg511Thr		201050854	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986498	0.35036	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.65	4.7	0.59300	.	0.089152	0.46442	D	0.000287	T	0.21103	0.0508	N	0.14661	0.345	0.37857	D	0.929585	P;P;P	0.46142	0.501;0.873;0.799	B;B;B	0.39379	0.054;0.298;0.272	T	0.02339	-1.1174	9	0.27082	T	0.32	-15.3738	5.7917	0.18363	0.1715:0.0:0.8285:0.0	.	541;442;511	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	T	511;511;511;451;511;442;511;541;519	.	ENSP00000351503:R511T	R	+	2	0	SPATS2L	201050854	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	3.143000	0.50608	2.941000	0.99782	0.655000	0.94253	AGG		0.597	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		C	201342609	G	C	201342609	3	2	416	1	0	0	0	0	1	0	0	0	15022	1000	35	3	1574	3	SPATS2L	2	201342609	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	2392577	201342609	41856764	8	22713											
MAP2	4133	broad.mit.edu	37	2	210570348	210570348	+	Silent	SNP	A	A	G			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr2:210570348A>G	ENST00000360351.4	+	11	5135	c.4629A>G	c.(4627-4629)agA>agG	p.R1543R	MAP2_ENST00000392194.1_Silent_p.R187R|MAP2_ENST00000447185.1_Silent_p.R1539R|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Silent_p.R244R|MAP2_ENST00000361559.4_Silent_p.R187R	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1543					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.R1543R(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTCTCCCAAGACCTTCCTCCA	0.468																																					Pancreas(27;423 979 28787 29963)											1	Substitution - coding silent(1)	ovary(1)	2											121	123	123					2																	210570348		2203	4300	6503	210278593	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4629A>G	2.37:g.210570348A>G			210278593	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		G	210570348	A	G	210570348	2	3	416	1	0	0	0	0	0	0	0	1	9235	272	10	4		4	MAP2	2	210570348	Silent	SNP	A	TCGA-59-2363-01A-01W-0799-08	9227739	210570348	32629025	9	22714											
PLCL2	23228	broad.mit.edu	37	3	17051283	17051283	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr3:17051283C>A	ENST00000418129.2	+	2	532	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	PLCL2_ENST00000432376.1_Missense_Mutation_p.L23I|PLCL2_ENST00000396755.2_Missense_Mutation_p.L23I|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	149	Gly-rich.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L23I(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGGTTCAGAACTCAAAAAGGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											69	68	68					3																	17051283		2203	4300	6503	17026287	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.67C>A	3.37:g.17051283C>A	ENSP00000409637:p.Leu23Ile		17026287	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370210	0.61624	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.66638	-0.22;-0.22;-0.22	5.73	5.73	0.89815	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.057996	0.64402	D	0.000001	T	0.79221	0.4409	.	.	.	0.48632	D	0.999683	D;D	0.56968	0.978;0.964	P;P	0.62649	0.905;0.841	T	0.80741	-0.1247	9	0.66056	D	0.02	.	13.1287	0.59369	0.0:0.9268:0.0:0.0732	.	149;23	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	I	23;150;23;23	ENSP00000409637:L23I;ENSP00000379979:L23I;ENSP00000412836:L23I	ENSP00000285094:L150I	L	+	1	0	PLCL2	17026287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.947000	0.63583	2.709000	0.92574	0.491000	0.48974	CTC		0.428	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			A	17051283	C	A	17051283	3	1	416	1	0	0	0	0	1	0	0	0	12040	565	20	3	445	3	PLCL2	3	17051283	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08		17051283	180971147	10	22715											
ENTPD3	956	broad.mit.edu	37	3	40457427	40457427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr3:40457427G>T	ENST00000301825.3	+	7	812	c.694G>T	c.(694-696)Gga>Tga	p.G232*	ENTPD3_ENST00000456402.1_Nonsense_Mutation_p.G232*|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Nonsense_Mutation_p.G232*|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	232					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.G232*(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CTTCGTGGCAGGAGAGAAGAT	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	3											98	82	87					3																	40457427		2203	4300	6503	40432431	SO:0001587	stop_gained	956			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.694G>T	3.37:g.40457427G>T	ENSP00000301825:p.Gly232*		40432431	B2R8D0|G5E9N0|O60495|Q8N6K2	Nonsense_Mutation	SNP	ENST00000301825.3	37	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807123	0.90623	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	.	.	.	5.38	4.46	0.54185	.	0.716014	0.14346	N	0.325426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.0498	12.7192	0.57131	0.0:0.166:0.834:0.0	.	.	.	.	X	232	.	ENSP00000301825:G232X	G	+	1	0	ENTPD3	40432431	0.850000	0.29656	0.006000	0.13384	0.948000	0.59901	2.843000	0.48238	2.680000	0.91292	0.655000	0.94253	GGA		0.557	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		T	40457427	G	T	40457427	4	4	416	1	0	0	0	0	0	1	0	0	5140	1001	35	3	716	3	ENTPD3	3	40457427	Nonsense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	23406144	40457427	157565003	11	22716											
RNF123	63891	broad.mit.edu	37	3	49751566	49751566	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr3:49751566T>A	ENST00000327697.6	+	31	3113	c.2969T>A	c.(2968-2970)cTg>cAg	p.L990Q	RNF123_ENST00000433785.1_Missense_Mutation_p.L102Q	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	990					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L990Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCACATCTGCTGAAAACCAAA	0.622																																																1	Substitution - Missense(1)	ovary(1)	3											93	94	94					3																	49751566		2203	4300	6503	49726570	SO:0001583	missense	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2969T>A	3.37:g.49751566T>A	ENSP00000328287:p.Leu990Gln		49726570	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622301	0.87460	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.63255	-0.03;-0.03	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.73830	0.3637	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.71009	-0.4716	10	0.30854	T	0.27	-16.0386	15.5459	0.76101	0.0:0.0:0.0:1.0	.	990	Q5XPI4	RN123_HUMAN	Q	990;990;102	ENSP00000328287:L990Q;ENSP00000416156:L102Q	ENSP00000328287:L990Q	L	+	2	0	RNF123	49726570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.488000	0.81441	2.263000	0.75096	0.533000	0.62120	CTG		0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		A	49751566	T	A	49751566	3	1	416	1	0	0	0	0	1	0	0	0	13436	1580	55	5	3087	5	RNF123	3	49751566	Missense_Mutation	SNP	T	TCGA-59-2363-01A-01W-0799-08	9294139	49751566	148270864	12	22717											
C3orf15	89876	broad.mit.edu	37	3	119466107	119466107	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr3:119466107G>A	ENST00000273390.5	+	15	2125	c.2048G>A	c.(2047-2049)aGc>aAc	p.S683N	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	519						mitochondrion (GO:0005739)		p.S683N(1)									GAAATGGAAAGCCGGTGTGTA	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											80	71	74					3																	119466107		2203	4300	6503	120948797	SO:0001583	missense	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.2048G>A	3.37:g.119466107G>A	ENSP00000273390:p.Ser683Asn		120948797	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934432	0.18206	.	.	ENSG00000183833	ENST00000273390	T	0.23348	1.91	5.68	-4.77	0.03219	.	0.626077	0.17560	N	0.169849	T	0.10723	0.0262	N	0.16066	0.365	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.004	T	0.26573	-1.0099	10	0.20519	T	0.43	-10.987	9.2642	0.37630	0.5437:0.1738:0.2825:0.0	.	519;621;683	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	N	683	ENSP00000273390:S683N	ENSP00000273390:S683N	S	+	2	0	C3orf15	120948797	0.000000	0.05858	0.291000	0.24904	0.916000	0.54674	-0.610000	0.05629	-0.818000	0.04329	-0.218000	0.12543	AGC		0.383	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		A	119466107	G	A	119466107	3	1	416	1	0	0	0	0	1	0	0	0	2209	971	34	2	2106	2	C3orf15	3	119466107	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	69714541	119466107	78556323	13	22718											
EPHB1	2047	broad.mit.edu	37	3	134920468	134920468	+	Silent	SNP	C	C	T	rs555858727		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr3:134920468C>T	ENST00000398015.3	+	12	2653	c.2283C>T	c.(2281-2283)tcC>tcT	p.S761S	EPHB1_ENST00000493838.1_Silent_p.S322S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	761	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.S761S(4)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCAAGGTGTCCGACTTTGGCC	0.537													c|||	1	0.000199681	0	0	5008	,	,		21167	0.001		0	False		,,,				2504	0															4	Substitution - coding silent(4)	ovary(2)|endometrium(2)	3											139	142	141					3																	134920468		2199	4298	6497	136403158	SO:0001819	synonymous_variant	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2283C>T	3.37:g.134920468C>T			136403158	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	CCDS46921.1																																																																																				0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		T	134920468	C	T	134920468	2	4	416	1	0	0	0	0	0	0	0	1	5174	639	23	1		1	EPHB1	3	134920468	Silent	SNP	C	TCGA-59-2363-01A-01W-0799-08	15454361	134920468	63101962	14	22719											
PLOD2	5352	broad.mit.edu	37	3	145841965	145841965	+	Missense_Mutation	SNP	C	C	T	rs148641011		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr3:145841965C>T	ENST00000360060.3	-	2	338	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	PLOD2_ENST00000282903.5_Missense_Mutation_p.R54Q|PLOD2_ENST00000494950.1_5'UTR	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	54					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.R54Q(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTGCATAAATCGATGGAATCC	0.318																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	3						C	GLN/ARG,GLN/ARG	0,4404		0,0,2202	153	150	151	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	161,161	4.9	1	3	dbSNP_134	151	3,8593	3.0+/-9.4	0,3,4295	no	missense,missense	PLOD2	NM_000935.2,NM_182943.2	43,43	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	54/738,54/759	145841965	3,12997	2202	4298	6500	147324655	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.161G>A	3.37:g.145841965C>T	ENSP00000353170:p.Arg54Gln		147324655	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383930	0.95967	0.0	3.49E-4	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000469350	T;T;T	0.36699	1.24;1.24;1.24	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.77004	0.862;0.989	T	0.77983	-0.2382	10	0.87932	D	0	-29.407	17.5893	0.87991	0.0:1.0:0.0:0.0	.	54;54	O00469;O00469-2	PLOD2_HUMAN;.	Q	54;54;26	ENSP00000282903:R54Q;ENSP00000353170:R54Q;ENSP00000419963:R26Q	ENSP00000282903:R54Q	R	-	2	0	PLOD2	147324655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.678000	0.74508	2.241000	0.73720	0.471000	0.43371	CGA		0.318	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		T	145841965	C	T	145841965	3	4	416	1	0	0	0	0	1	0	0	0	12102	884	31	1	2191	1	PLOD2	3	145841965	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	10921497	145841965	52180465	15	22720											
LRRC66	339977	broad.mit.edu	37	4	52860770	52860770	+	Silent	SNP	G	G	C	rs149465543	byFrequency	TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr4:52860770G>C	ENST00000343457.3	-	4	2424	c.2418C>G	c.(2416-2418)ccC>ccG	p.P806P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	806						integral component of membrane (GO:0016021)		p.P806P(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGGTGACCTGGGCCAGGGTG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	4											50	53	52					4																	52860770		1881	4104	5985	52555527	SO:0001819	synonymous_variant	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2418C>G	4.37:g.52860770G>C			52555527		Silent	SNP	ENST00000343457.3	37	CCDS43229.1																																																																																				0.488	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		C	52860770	G	C	52860770	2	2	416	1	0	0	0	0	0	0	0	1	9018	1335	47	3		3	LRRC66	4	52860770	Silent	SNP	G	TCGA-59-2363-01A-01W-0799-08		52860770	138293506	16	22721											
ODAM	54959	broad.mit.edu	37	4	71062430	71062430	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr4:71062430T>A	ENST00000396094.2	+	2	121	c.73T>A	c.(73-75)Tct>Act	p.S25T		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	25					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.S25T(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GCGTCTCATGTCTGCCAGCAA	0.328																																																1	Substitution - Missense(1)	ovary(1)	4											65	59	61					4																	71062430		1822	4083	5905	71097019	SO:0001583	missense	54959			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.73T>A	4.37:g.71062430T>A	ENSP00000379401:p.Ser25Thr		71097019	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657150	0.47467	.	.	ENSG00000109205	ENST00000396094	T	0.62788	-0.0	5.39	5.39	0.77823	.	.	.	.	.	T	0.72700	0.3493	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	D	0.64237	0.923	T	0.75508	-0.3293	9	0.87932	D	0	-16.5195	11.7139	0.51641	0.0:0.0:0.0:1.0	.	25	A1E959	ODAM_HUMAN	T	25	ENSP00000379401:S25T	ENSP00000379401:S25T	S	+	1	0	ODAM	71097019	1.000000	0.71417	0.989000	0.46669	0.019000	0.09904	3.432000	0.52824	2.263000	0.75096	0.528000	0.53228	TCT		0.328	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		A	71062430	T	A	71062430	3	1	416	1	0	0	0	0	1	0	0	0	10824	1667	58	5	79	5	ODAM	4	71062430	Missense_Mutation	SNP	T	TCGA-59-2363-01A-01W-0799-08	18201660	71062430	120091846	17	22722											
TACR3	6870	broad.mit.edu	37	4	104510899	104510899	+	Silent	SNP	A	A	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr4:104510899A>T	ENST00000304883.2	-	5	1478	c.1338T>A	c.(1336-1338)tcT>tcA	p.S446S	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	446					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.S446S(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGCGGAGGCAGATTTGGAAT	0.463																																																2	Substitution - coding silent(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	4											139	134	136					4																	104510899		2203	4300	6503	104730348	SO:0001819	synonymous_variant	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1338T>A	4.37:g.104510899A>T			104730348	Q0P510	Silent	SNP	ENST00000304883.2	37	CCDS3664.1																																																																																				0.463	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		T	104510899	A	T	104510899	2	4	416	1	0	0	0	0	0	0	0	1	15507	175	7	5		5	TACR3	4	104510899	Silent	SNP	A	TCGA-59-2363-01A-01W-0799-08	33448469	104510899	86643377	18	22723											
ANK2	287	broad.mit.edu	37	4	114294463	114294463	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr4:114294463G>A	ENST00000357077.4	+	45	11770	c.11717G>A	c.(11716-11718)cGg>cAg	p.R3906Q	ANK2_ENST00000506722.1_Missense_Mutation_p.R1812Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1821Q|ANK2_ENST00000510275.2_Missense_Mutation_p.R504Q|ANK2_ENST00000509550.1_Missense_Mutation_p.R997Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R3873Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3906			R -> W (in LQT4; loss of function; dbSNP:rs121912706). {ECO:0000269|PubMed:15178757}.		atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3906Q(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCATTAGGCGGTATGTATCC	0.388																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	4											82	83	82					4																	114294463		2203	4300	6503	114513912	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11717G>A	4.37:g.114294463G>A	ENSP00000349588:p.Arg3906Gln		114513912	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541703	0.85917	.	.	ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	T;T;T;T;T;D;D	0.96913	-0.44;-0.42;-0.53;-0.54;-1.17;-2.16;-4.17	6.06	5.21	0.72293	.	0.152178	0.30959	N	0.008538	D	0.96722	0.8930	L	0.41356	1.27	0.35640	D	0.810947	D;D;D;P;D;P	0.89917	0.968;0.999;0.985;0.948;1.0;0.939	B;P;B;B;D;B	0.87578	0.269;0.822;0.416;0.254;0.998;0.388	D	0.98304	1.0520	10	0.32370	T	0.25	.	15.2349	0.73422	0.0671:0.0:0.9329:0.0	.	997;887;853;1821;3906;1812	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;.;.;.;.;.	Q	1812;887;1821;3906;3873;1812;997;504;916	ENSP00000421067:R1812Q;ENSP00000378044:R1821Q;ENSP00000349588:R3906Q;ENSP00000264366:R3873Q;ENSP00000426944:R997Q;ENSP00000421023:R504Q;ENSP00000422498:R916Q	ENSP00000264366:R3873Q	R	+	2	0	ANK2	114513912	1.000000	0.71417	0.973000	0.42090	0.941000	0.58515	5.918000	0.69996	1.565000	0.49641	0.655000	0.94253	CGG		0.388	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114294463	G	A	114294463	3	1	416	1	0	0	0	0	1	0	0	0	621	1116	39	1	11960	1	ANK2	4	114294463	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	9783564	114294463	76859813	19	22724											
SCLT1	132320	broad.mit.edu	37	4	129869664	129869664	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr4:129869664T>A	ENST00000281142.5	-	15	1783	c.1280A>T	c.(1279-1281)gAa>gTa	p.E427V	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	427					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.E427V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTAGTTCTTCTTCCACTGC	0.338																																																1	Substitution - Missense(1)	ovary(1)	4											152	138	143					4																	129869664		2202	4298	6500	130089114	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1280A>T	4.37:g.129869664T>A	ENSP00000281142:p.Glu427Val		130089114	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	T	9.179	1.023117	0.19433	.	.	ENSG00000151466	ENST00000281142	T	0.35605	1.3	5.73	4.54	0.55810	.	0.230396	0.43416	D	0.000578	T	0.51075	0.1653	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.64237	0.923	T	0.46978	-0.9152	9	.	.	.	-13.1505	11.3914	0.49817	0.1358:0.0:0.0:0.8642	.	427	Q96NL6	SCLT1_HUMAN	V	427	ENSP00000281142:E427V	.	E	-	2	0	SCLT1	130089114	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	3.816000	0.55658	0.987000	0.38709	-0.327000	0.08410	GAA		0.338	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		A	129869664	T	A	129869664	3	1	416	1	0	0	0	0	1	0	0	0	13909	1783	62	5	814	5	SCLT1	4	129869664	Missense_Mutation	SNP	T	TCGA-59-2363-01A-01W-0799-08	15575201	129869664	61284612	20	22725											
SNX25	83891	broad.mit.edu	37	4	186263210	186263210	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr4:186263210G>C	ENST00000504273.1	+	12	1929	c.1635G>C	c.(1633-1635)aaG>aaC	p.K545N	SNX25_ENST00000264694.8_Missense_Mutation_p.K545N|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	545	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.K545N(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TTGAAACTAAGAACTGGACGG	0.423																																																1	Substitution - Missense(1)	ovary(1)	4											163	161	162					4																	186263210		2203	4300	6503	186500204	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1635G>C	4.37:g.186263210G>C	ENSP00000426255:p.Lys545Asn		186500204	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131452	0.37630	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.30714	1.52;1.52	5.66	3.93	0.45458	Phox homologous domain (5);	0.106321	0.64402	D	0.000004	T	0.17280	0.0415	N	0.14661	0.345	0.41107	D	0.985719	B;B;B	0.16166	0.015;0.002;0.016	B;B;B	0.19148	0.022;0.007;0.024	T	0.06215	-1.0839	10	0.25106	T	0.35	-18.6372	9.8707	0.41172	0.209:0.0:0.791:0.0	.	316;78;545	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	N	545;545;78	ENSP00000426255:K545N;ENSP00000264694:K545N	ENSP00000264693:K78N	K	+	3	2	SNX25	186500204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.657000	0.37366	0.735000	0.32537	0.643000	0.83706	AAG		0.423	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		C	186263210	G	C	186263210	3	2	416	1	0	0	0	0	1	0	0	0	14899	933	33	3	1677	3	SNX25	4	186263210	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	56393546	186263210	4891066	21	22726											
CAST	831	broad.mit.edu	37	5	96079350	96079350	+	Intron	SNP	C	C	G			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr5:96079350C>G	ENST00000341926.3	+	14	1113				CAST_ENST00000511782.1_Intron|CAST_ENST00000504465.1_Intron|CAST_ENST00000508830.1_Intron|CAST_ENST00000511049.1_Intron|CAST_ENST00000359176.4_Intron|CAST_ENST00000509903.1_Intron|CAST_ENST00000508579.1_Intron|CAST_ENST00000508608.1_Intron|CAST_ENST00000338252.3_Intron|CAST_ENST00000515663.1_Missense_Mutation_p.S7W|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000395813.1_Intron|CAST_ENST00000325674.7_Intron|CAST_ENST00000395812.2_Intron|CAST_ENST00000309190.5_Intron|CAST_ENST00000510756.1_Intron|CAST_ENST00000348386.3_Intron			P20810	ICAL_HUMAN	calpastatin						negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TTTCTATCTTCGACTTTCTTG	0.537																																																0			5																																								96105106	SO:0001627	intron_variant	831			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.951+890C>G	5.37:g.96079350C>G			96105106	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37		.	.	.	.	.	.	.	.	.	.	C	16.35	3.098507	0.56183	.	.	ENSG00000153113	ENST00000515663	T	0.20881	2.04	3.7	3.7	0.42460	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.957;0.97	T	0.40701	-0.9549	8	0.87932	D	0	.	11.2466	0.49000	0.0:1.0:0.0:0.0	.	7;7	E7EQA0;E7EPY6	.;.	W	7	ENSP00000422929:S7W	ENSP00000422929:S7W	S	+	2	0	CAST	96105106	0.883000	0.30277	0.794000	0.32065	0.729000	0.41735	2.981000	0.49329	2.337000	0.79520	0.563000	0.77884	TCG		0.537	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		G	96079350	C	G	96079350	1	3	416	0	1	0	0	0	0	0	0	0	2684	893	31	3		3	CAST	5	96079350	Intron	SNP	C	TCGA-59-2363-01A-01W-0799-08		96079350	84835910	22	22727											
RAD50	10111	broad.mit.edu	37	5	131976488	131976488	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr5:131976488C>G	ENST00000265335.6	+	24	4130	c.3743C>G	c.(3742-3744)gCt>gGt	p.A1248G	AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000435042.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.A1109G|AC004041.2_ENST00000457489.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1248					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.A1109G(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGCACATGCTCTGGTTGAG	0.453								Homologous recombination																																								1	Substitution - Missense(1)	ovary(1)	5											303	257	273					5																	131976488		2203	4300	6503	132004387	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3743C>G	5.37:g.131976488C>G	ENSP00000265335:p.Ala1248Gly		132004387	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.213931|3.213931	0.58452|0.58452	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000378823;ENST00000265335|ENST00000455677	T;T|.	0.03860|.	3.78;3.78|.	.|.	.|.	.|.	.|.	0.056854|.	0.64402|.	D|.	0.000001|.	T|T	0.55878|0.55878	0.1948|0.1948	L|L	0.51422|0.51422	1.61|1.61	0.53005|0.53005	D|D	0.999962|0.999962	P|.	0.50617|.	0.937|.	D|.	0.66497|.	0.944|.	T|T	0.48581|0.48581	-0.9023|-0.9023	8|3	0.66056|.	D|.	0.02|.	-7.2777|-7.2777	.|.	.|.	.|.	.|.	1248|.	Q92878|.	RAD50_HUMAN|.	G|W	1109;1248|126	ENSP00000368100:A1109G;ENSP00000265335:A1248G|.	ENSP00000265335:A1248G|.	A|C	+|+	2|3	0|2	RAD50|RAD50	132004387|132004387	1.000000|1.000000	0.71417|0.71417	0.855000|0.855000	0.33649|0.33649	0.857000|0.857000	0.48899|0.48899	6.510000|6.510000	0.73729|0.73729	0.064000|0.064000	0.16427|0.16427	0.064000|0.064000	0.15345|0.15345	GCT|TGC		0.453	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		G	131976488	C	G	131976488	3	3	416	1	0	0	0	0	1	0	0	0	12987	797	28	3	3837	3	RAD50	5	131976488	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	35897138	131976488	48938772	23	22728											
HIST1H3I	8354	broad.mit.edu	37	6	27839796	27839796	+	Missense_Mutation	SNP	A	A	G	rs142221765		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr6:27839796A>G	ENST00000328488.2	-	1	303	c.298T>C	c.(298-300)Tac>Cac	p.Y100H		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	100				Y -> T (in Ref. 7; CAB02546). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.Y100H(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCACCAGGTAGGCCTCGCAA	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											92	98	96					6																	27839796		2203	4300	6503	27947775	SO:0001583	missense	8354			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"Histones / Replication-dependent"	4771	protein-coding gene	gene with protein product		602814	"H3 histone family, member F", "histone 1, H3i"	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.298T>C	6.37:g.27839796A>G	ENSP00000329554:p.Tyr100His		27947775	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.340833	0.60963	.	.	ENSG00000182572	ENST00000328488	T	0.50548	0.74	4.12	4.12	0.48240	.	.	.	.	.	T	0.52468	0.1736	.	.	.	0.39119	D	0.961638	.	.	.	.	.	.	T	0.60131	-0.7323	6	0.87932	D	0	.	13.3331	0.60500	1.0:0.0:0.0:0.0	.	.	.	.	H	100	ENSP00000329554:Y100H	ENSP00000329554:Y100H	Y	-	1	0	HIST1H3I	27947775	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.415000	0.90241	2.086000	0.62901	0.528000	0.53228	TAC		0.582	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		G	27839796	A	G	27839796	3	3	416	1	0	0	0	0	1	0	0	0	7163	420	15	4	116	4	HIST1H3I	6	27839796	Missense_Mutation	SNP	A	TCGA-59-2363-01A-01W-0799-08		27839796	143275271	24	22729											
OR14J1	442191	broad.mit.edu	37	6	29274985	29274985	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr6:29274985C>A	ENST00000377160.2	+	1	583	c.519C>A	c.(517-519)caC>caA	p.H173Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H173Q(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAGTCATTCACCAATTCTTCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	6											167	168	167					6																	29274985		1511	2709	4220	29382964	SO:0001583	missense	442191				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"GPCR / Class A : Olfactory receptors"	13971	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily U, member 1"	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.519C>A	6.37:g.29274985C>A	ENSP00000366365:p.His173Gln		29382964	A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031782	0.54790	.	.	ENSG00000204695	ENST00000377160	T	0.00137	8.68	4.86	-3.58	0.04597	GPCR, rhodopsin-like superfamily (1);	0.660504	0.13035	N	0.419040	T	0.00073	0.0002	L	0.53249	1.67	0.09310	N	1	D	0.64830	0.994	D	0.69824	0.966	T	0.49234	-0.8961	10	0.32370	T	0.25	.	2.2389	0.04015	0.1045:0.311:0.3075:0.277	.	173	Q9UGF5	O14J1_HUMAN	Q	173	ENSP00000366365:H173Q	ENSP00000366365:H173Q	H	+	3	2	OR14J1	29382964	0.000000	0.05858	0.001000	0.08648	0.594000	0.36715	-1.633000	0.02022	-0.879000	0.04002	-0.127000	0.14921	CAC		0.468	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			A	29274985	C	A	29274985	3	1	416	1	0	0	0	0	1	0	0	0	10948	506	18	3	521	3	OR14J1	6	29274985	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	1435189	29274985	141840082	25	22730											
FTSJD2	23070	broad.mit.edu	37	6	37418056	37418056	+	Silent	SNP	T	T	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr6:37418056T>C	ENST00000373451.4	+	5	638	c.474T>C	c.(472-474)ttT>ttC	p.F158F		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	158					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.F158F(1)									TGTCATGGTTTCCAGAATGTA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	6											171	144	153					6																	37418056		2203	4300	6503	37526034	SO:0001819	synonymous_variant	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.474T>C	6.37:g.37418056T>C			37526034	A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	CCDS4835.1																																																																																				0.478	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		C	37418056	T	C	37418056	2	2	416	1	0	0	0	0	0	0	0	1	6091	1780	62	4		4	FTSJD2	6	37418056	Silent	SNP	T	TCGA-59-2363-01A-01W-0799-08	8143071	37418056	133697011	26	22731											
MICAL1	64780	broad.mit.edu	37	6	109768420	109768420	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr6:109768420C>T	ENST00000358807.3	-	17	2394	c.2083G>A	c.(2083-2085)Gac>Aac	p.D695N	MICAL1_ENST00000358577.3_Missense_Mutation_p.D609N|MICAL1_ENST00000368952.4_Missense_Mutation_p.D714N	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	695	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.D695N(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCACACAGGTCCCCAGCACCG	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											93	96	95					6																	109768420		2203	4300	6503	109875113	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2083G>A	6.37:g.109768420C>T	ENSP00000351664:p.Asp695Asn		109875113	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.492905	0.44352	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	T;T;T	0.53640	0.62;0.62;0.61	5.89	5.03	0.67393	Zinc finger, LIM-type (1);	0.337202	0.30742	N	0.008973	T	0.32823	0.0842	M	0.66506	2.035	0.24954	N	0.991776	P;B;B	0.34662	0.462;0.007;0.004	B;B;B	0.38985	0.287;0.011;0.005	T	0.24835	-1.0149	10	0.48119	T	0.1	.	11.0419	0.47835	0.0:0.915:0.0:0.085	.	714;609;695	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	N	695;714;609;219	ENSP00000351664:D695N;ENSP00000357948:D714N;ENSP00000351385:D609N	ENSP00000351385:D609N	D	-	1	0	MICAL1	109875113	0.011000	0.17503	0.350000	0.25708	0.250000	0.25880	1.942000	0.40243	1.504000	0.48704	-0.140000	0.14226	GAC		0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		T	109768420	C	T	109768420	3	4	416	1	0	0	0	0	1	0	0	0	9569	855	30	2	1156	2	MICAL1	6	109768420	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	72350364	109768420	61346647	27	22732											
SYNE1	23345	broad.mit.edu	37	6	152554927	152554927	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr6:152554927T>C	ENST00000367255.5	-	112	21302	c.20701A>G	c.(20701-20703)Aag>Gag	p.K6901E	SYNE1_ENST00000423061.1_Missense_Mutation_p.K6830E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K6830E|SYNE1_ENST00000356820.4_Missense_Mutation_p.K1425E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K6513E|SYNE1_ENST00000265368.4_Missense_Mutation_p.K6901E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6901					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K6901E(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTGGAGCTTCTCCTGGACG	0.463										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											67	59	62					6																	152554927		2203	4300	6503	152596620	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20701A>G	6.37:g.152554927T>C	ENSP00000356224:p.Lys6901Glu		152596620	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	29.6	5.017997	0.93404	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.74	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	T	0.62405	0.2425	M	0.81497	2.545	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.61397	-0.7071	10	0.25751	T	0.34	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	6901;6901;6830	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	E	6901;6830;6901;6830;6513;1425	ENSP00000356224:K6901E;ENSP00000396024:K6830E;ENSP00000265368:K6901E;ENSP00000390975:K6830E;ENSP00000341887:K6513E;ENSP00000349276:K1425E	ENSP00000265368:K6901E	K	-	1	0	SYNE1	152596620	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	AAG		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152554927	T	C	152554927	3	2	416	1	0	0	0	0	1	0	0	0	15445	1792	62	4	5905	4	SYNE1	6	152554927	Missense_Mutation	SNP	T	TCGA-59-2363-01A-01W-0799-08	42786507	152554927	18560140	28	22733											
SYNE1	23345	broad.mit.edu	37	6	152651696	152651696	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr6:152651696C>A	ENST00000367255.5	-	78	14725	c.14124G>T	c.(14122-14124)gaG>gaT	p.E4708D	SYNE1_ENST00000423061.1_Missense_Mutation_p.E4637D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4637D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4455D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4708D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4708					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E4708D(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGAAAGAGCCTCCTCAACGG	0.512										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											46	51	49					6																	152651696		2203	4300	6503	152693389	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14124G>T	6.37:g.152651696C>A	ENSP00000356224:p.Glu4708Asp		152693389	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	7.852	0.724281	0.15439	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.93	-0.797	0.10909	.	0.000000	0.64402	D	0.000009	T	0.42675	0.1213	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.994;0.994;0.997	T	0.42799	-0.9430	10	0.18276	T	0.48	.	10.9298	0.47211	0.0:0.3972:0.0:0.6028	.	4708;4708;4708;4637	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	4708;4637;4708;4637;4455	ENSP00000356224:E4708D;ENSP00000396024:E4637D;ENSP00000265368:E4708D;ENSP00000390975:E4637D;ENSP00000341887:E4455D	ENSP00000265368:E4708D	E	-	3	2	SYNE1	152693389	0.004000	0.15560	0.089000	0.20774	0.014000	0.08584	-0.347000	0.07750	-0.084000	0.12595	0.591000	0.81541	GAG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152651696	C	A	152651696	3	1	416	1	0	0	0	0	1	0	0	0	15445	680	24	3	12618	3	SYNE1	6	152651696	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	96769	152651696	18463371	29	22734											
QKI	9444	broad.mit.edu	37	6	163984627	163984627	+	Silent	SNP	A	A	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr6:163984627A>T	ENST00000361752.3	+	6	1361	c.810A>T	c.(808-810)ccA>ccT	p.P270P	QKI_ENST00000275262.7_Silent_p.P270P|QKI_ENST00000424802.3_Silent_p.P262P|QKI_ENST00000392127.2_Silent_p.P270P|QKI_ENST00000453779.2_Silent_p.P270P|QKI_ENST00000361195.2_Silent_p.P262P	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	270					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P270P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTCCTCACCCAACTGCTGCAA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	6											105	99	101					6																	163984627		2203	4300	6503	163904617	SO:0001819	synonymous_variant	9444			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.810A>T	6.37:g.163984627A>T			163904617	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	37	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	A	8.188	0.795364	0.16327	.	.	ENSG00000112531	ENST00000537883;ENST00000544361	.	.	.	6.02	-10.3	0.00346	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42481	-0.9449	4	.	.	.	-1.2763	3.1926	0.06623	0.2452:0.431:0.1634:0.1604	.	.	.	.	Y	167;104	.	.	N	+	1	0	QKI	163904617	0.275000	0.24201	0.947000	0.38551	0.999000	0.98932	-0.536000	0.06135	-1.632000	0.01541	0.533000	0.62120	AAC		0.517	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		T	163984627	A	T	163984627	2	4	416	1	0	0	0	0	0	0	0	1	12876	117	5	5		5	QKI	6	163984627	Silent	SNP	A	TCGA-59-2363-01A-01W-0799-08	11332931	163984627	7130440	30	22735											
CSMD3	114788	broad.mit.edu	37	8	113326789	113326789	+	Missense_Mutation	SNP	C	C	T	rs533489245	byFrequency	TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr8:113326789C>T	ENST00000297405.5	-	48	7662	c.7418G>A	c.(7417-7419)gGa>gAa	p.G2473E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2433E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2369E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2403E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2473	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2473E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCAGGATATCCAGGGCTCAA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	2	0.000399361	0	0	5008	,	,		16468	0.002		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	8											93	89	90					8																	113326789		2203	4300	6503	113395965	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7418G>A	8.37:g.113326789C>T	ENSP00000297405:p.Gly2473Glu		113395965	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472966	0.84640	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	4.98	4.98	0.66077	CUB (5);	0.000000	0.64402	D	0.000001	T	0.64271	0.2583	M	0.85373	2.75	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.991	T	0.63337	-0.6660	10	0.26408	T	0.33	.	18.4156	0.90568	0.0:1.0:0.0:0.0	.	2369;2473;2433	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	2433;2473;1743;2369;2403	ENSP00000345799:G2433E;ENSP00000297405:G2473E;ENSP00000341558:G1743E;ENSP00000412263:G2369E;ENSP00000343124:G2403E	ENSP00000297405:G2473E	G	-	2	0	CSMD3	113395965	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.929000	0.70096	2.576000	0.86940	0.579000	0.79373	GGA		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113326789	C	T	113326789	3	4	416	1	0	0	0	0	1	0	0	0	3946	855	30	2	3801	2	CSMD3	8	113326789	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08		113326789	33037233	31	22736											
TRPS1	7227	broad.mit.edu	37	8	116430677	116430677	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr8:116430677G>A	ENST00000220888.5	-	5	2824	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	TRPS1_ENST00000395715.3_Missense_Mutation_p.R902C|TRPS1_ENST00000519076.1_Missense_Mutation_p.R643C|TRPS1_ENST00000520276.1_Missense_Mutation_p.R893C			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	889					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R889C(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGCCTCTACGCCTCTGAAAC	0.473									Langer-Giedion syndrome																																							1	Substitution - Missense(1)	ovary(1)	8											88	89	89					8																	116430677		1909	4120	6029	116499853	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2665C>T	8.37:g.116430677G>A	ENSP00000220888:p.Arg889Cys		116499853	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.455925|3.455925	0.63401|0.63401	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000518018|ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	.|D;D;D;D	.|0.99695	.|-6.43;-6.43;-6.43;-6.43	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99402|0.99402	0.9789|0.9789	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.996;0.998	D|D	0.99585|0.99585	1.0974|1.0974	5|10	.|0.87932	.|D	.|0	.|.	20.0805|20.0805	0.97772|0.97772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|893;889;902	.|Q9UHF7-3;Q9UHF7;Q9UHF7-2	.|.;TRPS1_HUMAN;.	V|C	13|902;889;643;893	.|ENSP00000379065:R902C;ENSP00000220888:R889C;ENSP00000428910:R643C;ENSP00000428680:R893C	.|ENSP00000220888:R889C	A|R	-|-	2|1	0|0	TRPS1|TRPS1	116499853|116499853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.586000|7.586000	0.82596|0.82596	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GCG|CGT		0.473	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		A	116430677	G	A	116430677	3	1	416	1	0	0	0	0	1	0	0	0	16593	1087	38	1	1188	1	TRPS1	8	116430677	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	3103888	116430677	29933345	32	22737											
PLEC	5339	broad.mit.edu	37	8	144995639	144995639	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr8:144995639G>C	ENST00000322810.4	-	32	8930	c.8761C>G	c.(8761-8763)Cag>Gag	p.Q2921E	PLEC_ENST00000354589.3_Missense_Mutation_p.Q2784E|PLEC_ENST00000357649.2_Missense_Mutation_p.Q2788E|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2762E|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2752E|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2807E|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2784E|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2770E|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2811E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2921	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.Q2921E(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGATCTGCTGGCCAGTGTAG	0.657																																																1	Substitution - Missense(1)	ovary(1)	8											40	48	45					8																	144995639		2038	4172	6210	145067627	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8761C>G	8.37:g.144995639G>C	ENSP00000323856:p.Gln2921Glu		145067627	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	2.875	-0.233118	0.05983	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	4.94	3.13	0.36017	.	0.438741	0.19032	N	0.124540	T	0.34919	0.0914	N	0.02697	-0.525	0.23708	N	0.997051	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.23868	-1.0176	10	0.02654	T	1	.	10.2063	0.43116	0.0:0.7805:0.1424:0.0771	.	2811;2770;2762;2921;2752;2784;2788;2784	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	E	2784;2788;2784;2752;2921;2762;2770;2811;2807	ENSP00000344848:Q2784E;ENSP00000350277:Q2788E;ENSP00000346602:Q2784E;ENSP00000381756:Q2752E;ENSP00000323856:Q2921E;ENSP00000347044:Q2762E;ENSP00000348702:Q2770E;ENSP00000388180:Q2811E;ENSP00000434583:Q2807E	ENSP00000323856:Q2921E	Q	-	1	0	PLEC	145067627	0.130000	0.22417	0.229000	0.23960	0.030000	0.12068	1.025000	0.30090	0.614000	0.30107	-0.535000	0.04281	CAG		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		C	144995639	G	C	144995639	3	2	416	1	0	0	0	0	1	0	0	0	12052	1357	47	3	5297	3	PLEC	8	144995639	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	28564962	144995639	1368383	33	22738											
PRKACG	5568	broad.mit.edu	37	9	71628252	71628252	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr9:71628252A>G	ENST00000377276.2	-	1	787	c.757T>C	c.(757-759)Tct>Cct	p.S253P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.S253P(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACCCTCCCAGAGACGATCTTC	0.607																																					Esophageal Squamous(110;2236 2623 32146)											1	Substitution - Missense(1)	ovary(1)	9											76	77	77					9																	71628252		2203	4300	6503	70818072	SO:0001583	missense	5568			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.757T>C	9.37:g.71628252A>G	ENSP00000366488:p.Ser253Pro		70818072	O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930364	0.52866	.	.	ENSG00000165059	ENST00000377276	T	0.08546	3.08	1.16	1.16	0.20824	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	0.31041	U	0.008373	T	0.11153	0.0272	L	0.41415	1.275	0.29367	N	0.864269	P	0.37997	0.614	P	0.49047	0.599	T	0.04664	-1.0935	10	0.72032	D	0.01	.	6.0938	0.20008	1.0:0.0:0.0:0.0	.	253	P22612	KAPCG_HUMAN	P	253	ENSP00000366488:S253P	ENSP00000366488:S253P	S	-	1	0	PRKACG	70818072	1.000000	0.71417	0.005000	0.12908	0.005000	0.04900	4.281000	0.58965	0.470000	0.27294	0.460000	0.39030	TCT		0.607	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			G	71628252	A	G	71628252	3	3	416	1	0	0	0	0	1	0	0	0	12502	304	11	4	302	4	PRKACG	9	71628252	Missense_Mutation	SNP	A	TCGA-59-2363-01A-01W-0799-08		71628252	69585179	34	22739											
SFMBT2	57713	broad.mit.edu	37	10	7239546	7239546	+	Silent	SNP	C	C	T	rs199694660		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr10:7239546C>T	ENST00000361972.4	-	15	1752	c.1662G>A	c.(1660-1662)tcG>tcA	p.S554S	SFMBT2_ENST00000397167.1_Silent_p.S554S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	554					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.S554S(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCGGTCCCACCGACTGAGGTA	0.488													C|||	1	0.000199681	0	0.0014	5008	,	,		21337	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	10											118	111	113					10																	7239546		2203	4300	6503	7279552	SO:0001819	synonymous_variant	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1662G>A	10.37:g.7239546C>T			7279552	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.488	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		T	7239546	C	T	7239546	2	4	416	1	0	0	0	0	0	0	0	1	14161	639	23	1		1	SFMBT2	10	7239546	Silent	SNP	C	TCGA-59-2363-01A-01W-0799-08		7239546	128295201	35	22740											
CCDC147	159686	broad.mit.edu	37	10	106121820	106121820	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr10:106121820G>T	ENST00000369704.3	+	3	465	c.331G>T	c.(331-333)Gac>Tac	p.D111Y	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		111						extracellular space (GO:0005615)		p.D111Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTCAGCCTATGACAAAGAGCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	10											126	113	118					10																	106121820		2203	4300	6503	106111810	SO:0001583	missense	159686																														ENST00000369704.3:c.331G>T	10.37:g.106121820G>T	ENSP00000358718:p.Asp111Tyr		106111810	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465577	0.84425	.	.	ENSG00000120051	ENST00000369704	T	0.34072	1.38	6.17	5.27	0.74061	.	0.149930	0.64402	D	0.000009	T	0.54271	0.1848	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	P	0.62560	0.904	T	0.57487	-0.7803	10	0.66056	D	0.02	-29.1426	15.4602	0.75349	0.066:0.0:0.934:0.0	.	111	Q5T655	CC147_HUMAN	Y	111	ENSP00000358718:D111Y	ENSP00000358718:D111Y	D	+	1	0	CCDC147	106111810	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.687000	0.98667	1.616000	0.50265	0.655000	0.94253	GAC		0.463	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			T	106121820	G	T	106121820	3	4	416	1	0	0	0	0	1	0	0	0	2781	1290	45	3	341	3	CCDC147	10	106121820	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	98882274	106121820	29412927	36	22741											
OR52E2	119678	broad.mit.edu	37	11	5080594	5080594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr11:5080594C>T	ENST00000321522.2	-	1	263	c.264G>A	c.(262-264)tgG>tgA	p.W88*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W88*(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAGGTTGATCCAGAAGATTC	0.498																																																1	Substitution - Nonsense(1)	ovary(1)	11											88	81	83					11																	5080594		2201	4298	6499	5037170	SO:0001587	stop_gained	119678			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.264G>A	11.37:g.5080594C>T	ENSP00000322088:p.Trp88*		5037170		Nonsense_Mutation	SNP	ENST00000321522.2	37	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646800	0.29246	.	.	ENSG00000176787	ENST00000321522	.	.	.	3.77	3.77	0.43336	.	0.000000	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4564	0.75318	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000322088:W88X	W	-	3	0	OR52E2	5037170	0.021000	0.18746	0.940000	0.37924	0.088000	0.18126	1.788000	0.38714	2.429000	0.82318	0.650000	0.86243	TGG		0.498	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		T	5080594	C	T	5080594	4	4	416	1	0	0	0	0	0	1	0	0	11115	856	30	2	716	2	OR52E2	11	5080594	Nonsense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08		5080594	129925922	37	22742											
OR8K5	219453	broad.mit.edu	37	11	55927008	55927008	+	Silent	SNP	G	G	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr11:55927008G>T	ENST00000313447.1	-	1	785	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P262P(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAGTGGAATTGGGCTGCATGT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	11											109	94	99					11																	55927008		2201	4296	6497	55683584	SO:0001819	synonymous_variant	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.786C>A	11.37:g.55927008G>T			55683584	Q6IFB5	Silent	SNP	ENST00000313447.1	37	CCDS31521.1																																																																																				0.418	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		T	55927008	G	T	55927008	2	4	416	1	0	0	0	0	0	0	0	1	11245	1335	47	3		3	OR8K5	11	55927008	Silent	SNP	G	TCGA-59-2363-01A-01W-0799-08	50846414	55927008	79079508	38	22743											
OR9Q2	219957	broad.mit.edu	37	11	57958120	57958120	+	Missense_Mutation	SNP	G	G	A	rs375904836		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr11:57958120G>A	ENST00000311591.3	+	1	215	c.158G>A	c.(157-159)cGt>cAt	p.R53H		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R53H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CGTGGCGATCGTCGGCTCCAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	11						G	HIS/ARG	0,4402		0,0,2201	123	88	100		158	1.3	0.1	11		100	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR9Q2	NM_001005283.2	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	53/315	57958120	1,12993	2201	4296	6497	57714696	SO:0001583	missense	219957			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.158G>A	11.37:g.57958120G>A	ENSP00000308714:p.Arg53His		57714696		Missense_Mutation	SNP	ENST00000311591.3	37	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	3.496	-0.102870	0.06967	0.0	1.16E-4	ENSG00000186513	ENST00000311591	T	0.01084	5.36	5.43	1.31	0.21738	GPCR, rhodopsin-like superfamily (1);	0.611127	0.14730	N	0.301820	T	0.00695	0.0023	N	0.04655	-0.195	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48375	-0.9041	10	0.66056	D	0.02	-1.7086	5.1523	0.15017	0.329:0.3023:0.3687:0.0	.	53	Q8NGE9	OR9Q2_HUMAN	H	53	ENSP00000308714:R53H	ENSP00000308714:R53H	R	+	2	0	OR9Q2	57714696	0.001000	0.12720	0.147000	0.22382	0.046000	0.14306	0.691000	0.25467	0.785000	0.33685	-0.136000	0.14681	CGT		0.532	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		A	57958120	G	A	57958120	3	1	416	1	0	0	0	0	1	0	0	0	11256	1145	40	1	160	1	OR9Q2	11	57958120	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	2031112	57958120	77048396	39	22744											
PYGM	5837	broad.mit.edu	37	11	64514214	64514214	+	Missense_Mutation	SNP	G	G	C	rs143177272	byFrequency	TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr11:64514214G>C	ENST00000164139.3	-	20	2844	c.2446C>G	c.(2446-2448)Cgc>Ggc	p.R816G	RASGRP2_ENST00000394430.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.R728G|RASGRP2_ENST00000377487.1_5'Flank|RASGRP2_ENST00000377494.1_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000377486.3_5'Flank|RASGRP2_ENST00000394432.3_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	816					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.R816G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAATGGTGCGGTCACTGGAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	11											114	109	111					11																	64514214		2201	4297	6498	64270790	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2446C>G	11.37:g.64514214G>C	ENSP00000164139:p.Arg816Gly		64270790	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860506	0.71834	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96136	-3.92;-3.92	4.39	3.47	0.39725	.	0.000000	0.46145	D	0.000307	D	0.98492	0.9497	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97847	1.0272	10	0.87932	D	0	-16.3922	9.5257	0.39162	0.0:0.0:0.6169:0.3831	.	728;816	A6NDY6;P11217	.;PYGM_HUMAN	G	728;816;797	ENSP00000366650:R728G;ENSP00000164139:R816G	ENSP00000164139:R816G	R	-	1	0	PYGM	64270790	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.123000	0.50453	1.060000	0.40578	0.462000	0.41574	CGC		0.622	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		C	64514214	G	C	64514214	3	2	416	1	0	0	0	0	1	0	0	0	12865	1116	39	3	86	3	PYGM	11	64514214	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	6556094	64514214	70492302	40	22745											
ANKRD13D	338692	broad.mit.edu	37	11	67068552	67068552	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr11:67068552G>A	ENST00000447274.2	+	11	2079	c.904G>A	c.(904-906)Gct>Act	p.A302T	ANKRD13D_ENST00000515828.1_Missense_Mutation_p.A39T|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A302T|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A389T|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A302T|SSH3_ENST00000308298.7_5'Flank|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	302						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.A302T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATCAGCAACGCTCACTTTGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	11											156	129	138					11																	67068552		2200	4295	6495	66825128	SO:0001583	missense	338692			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.904G>A	11.37:g.67068552G>A	ENSP00000402616:p.Ala302Thr		66825128	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37		.	.	.	.	.	.	.	.	.	.	G	17.80	3.477916	0.63849	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.28192	0.835	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.82;0.743	D;P;B	0.79108	0.992;0.496;0.362	T	0.25950	-1.0117	10	0.22706	T	0.39	-18.6775	12.8467	0.57833	0.0:0.0:0.8369:0.1631	.	39;389;302	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	T	302;389;302;302;39	ENSP00000402616:A302T;ENSP00000427130:A389T;ENSP00000310874:A302T;ENSP00000444404:A302T;ENSP00000443977:A39T	ENSP00000310874:A302T	A	+	1	0	ANKRD13D	66825128	1.000000	0.71417	0.968000	0.41197	0.762000	0.43233	9.630000	0.98420	2.517000	0.84864	0.561000	0.74099	GCT		0.607	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		A	67068552	G	A	67068552	3	1	416	1	0	0	0	0	1	0	0	0	644	1087	38	1	1207	1	ANKRD13D	11	67068552	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	2554338	67068552	67937964	41	22746											
ANKK1	255239	broad.mit.edu	37	11	113270728	113270728	+	Silent	SNP	A	A	T	rs17115461	byFrequency	TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr11:113270728A>T	ENST00000303941.3	+	8	2131	c.2037A>T	c.(2035-2037)ctA>ctT	p.L679L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	679							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L679L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TCAACCTCCTAGAACATCACG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	11											67	75	72					11																	113270728		2073	4194	6267	112775938	SO:0001819	synonymous_variant	255239			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2037A>T	11.37:g.113270728A>T			112775938		Silent	SNP	ENST00000303941.3	37	CCDS44734.1																																																																																				0.622	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		T	113270728	A	T	113270728	2	4	416	1	0	0	0	0	0	0	0	1	631	407	15	5		5	ANKK1	11	113270728	Silent	SNP	A	TCGA-59-2363-01A-01W-0799-08	46202176	113270728	21735788	42	22747											
NLRX1	79671	broad.mit.edu	37	11	119052877	119052877	+	Missense_Mutation	SNP	C	C	T	rs148037206		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr11:119052877C>T	ENST00000409109.1	+	9	3016	c.2429C>T	c.(2428-2430)aCg>aTg	p.T810M	NLRX1_ENST00000409991.1_Missense_Mutation_p.T810M|NLRX1_ENST00000409265.4_Missense_Mutation_p.T810M|NLRX1_ENST00000292199.2_Missense_Mutation_p.T810M|NLRX1_ENST00000525863.1_Missense_Mutation_p.T810M	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	810	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.T810M(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACCTCAGTGACGCACCTGTCC	0.652																																																1	Substitution - Missense(1)	ovary(1)	11						C	MET/THR,MET/THR	2,4398	4.2+/-10.8	0,2,2198	91	87	88		2429,2429	2.9	0.5	11	dbSNP_134	88	1,8589	1.2+/-3.3	0,1,4294	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	81,81	0,3,6492	TT,TC,CC		0.0116,0.0455,0.0231	benign,benign	810/976,810/922	119052877	3,12987	2200	4295	6495	118558087	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2429C>T	11.37:g.119052877C>T	ENSP00000387334:p.Thr810Met		118558087	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	6.195	0.404074	0.11754	4.55E-4	1.16E-4	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	4.78	2.89	0.33648	.	0.135218	0.45867	D	0.000336	T	0.59689	0.2212	M	0.75615	2.305	0.09310	N	1	D;B	0.76494	0.999;0.205	P;B	0.55667	0.781;0.015	T	0.52373	-0.8584	10	0.51188	T	0.08	.	5.3811	0.16192	0.1233:0.5316:0.2646:0.0805	.	810;810	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	M	810	ENSP00000386851:T810M;ENSP00000292199:T810M;ENSP00000386858:T810M;ENSP00000387334:T810M;ENSP00000433442:T810M	ENSP00000292199:T810M	T	+	2	0	NLRX1	118558087	0.003000	0.15002	0.470000	0.27216	0.227000	0.25037	0.018000	0.13422	0.610000	0.30035	0.609000	0.83330	ACG		0.652	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		T	119052877	C	T	119052877	3	4	416	1	0	0	0	0	1	0	0	0	10485	536	19	1	2459	1	NLRX1	11	119052877	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	5782149	119052877	15953639	43	22748											
CSDA	8531	broad.mit.edu	37	12	10865817	10865817	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr12:10865817G>T	ENST00000228251.4	-	5	766	c.566C>A	c.(565-567)cCc>cAc	p.P189H	YBX3_ENST00000279550.7_Missense_Mutation_p.P189H	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	189					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P189H(1)									TACATTCCGGGGAGGGCCACG	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											84	94	90					12																	10865817		2203	4300	6503	10757084	SO:0001583	missense	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.566C>A	12.37:g.10865817G>T	ENSP00000228251:p.Pro189His		10757084	B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586847	0.86851	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.28454	1.67;1.61	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	T	0.58104	0.2099	M	0.76838	2.35	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.59968	-0.7354	10	0.54805	T	0.06	.	16.8488	0.85988	0.0:0.0:1.0:0.0	.	189;189	P16989-2;P16989	.;DBPA_HUMAN	H	189	ENSP00000279550:P189H;ENSP00000228251:P189H	ENSP00000228251:P189H	P	-	2	0	CSDA	10757084	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.444000	0.80532	2.569000	0.86673	0.491000	0.48974	CCC		0.502	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		T	10865817	G	T	10865817	3	4	416	1	0	0	0	0	1	0	0	0	3927	1232	43	3	572	3	CSDA	12	10865817	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08		10865817	122986078	44	22749											
KIF5A	3798	broad.mit.edu	37	12	57962813	57962813	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr12:57962813C>T	ENST00000455537.2	+	9	1056	c.782C>T	c.(781-783)gCt>gTt	p.A261V	KIF5A_ENST00000286452.5_Missense_Mutation_p.A172V	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	261	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.A261V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCACTGTCAGCTCTGGGCAAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											182	131	149					12																	57962813		2203	4300	6503	56249080	SO:0001583	missense	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.782C>T	12.37:g.57962813C>T	ENSP00000408979:p.Ala261Val		56249080	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121043	0.94385	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.76709	-1.04;-1.04	4.23	4.23	0.50019	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.85915	0.5808	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.961;0.993	D	0.87585	0.2487	10	0.72032	D	0.01	.	15.9283	0.79639	0.0:1.0:0.0:0.0	.	172;261	B7Z2M7;Q12840	.;KIF5A_HUMAN	V	261;172	ENSP00000408979:A261V;ENSP00000286452:A172V	ENSP00000286452:A172V	A	+	2	0	KIF5A	56249080	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.444000	0.80532	2.362000	0.80069	0.555000	0.69702	GCT		0.562	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		T	57962813	C	T	57962813	3	4	416	1	0	0	0	0	1	0	0	0	8305	797	28	2	816	2	KIF5A	12	57962813	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	47096996	57962813	75889082	45	22750											
TCP11L2	255394	broad.mit.edu	37	12	106715293	106715293	+	Silent	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr12:106715293C>T	ENST00000299045.3	+	5	618	c.444C>T	c.(442-444)ggC>ggT	p.G148G	TCP11L2_ENST00000546625.1_Silent_p.G148G|TCP11L2_ENST00000547153.1_Silent_p.G148G	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	148								p.G148G(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CTCCCGGTGGCAACCGGCTTC	0.458																																																1	Substitution - coding silent(1)	ovary(1)	12											47	45	45					12																	106715293		2203	4300	6503	105239423	SO:0001819	synonymous_variant	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.444C>T	12.37:g.106715293C>T			105239423	B2RA65|G3V1Y9	Silent	SNP	ENST00000299045.3	37	CCDS9104.1																																																																																				0.458	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		T	106715293	C	T	106715293	2	4	416	1	0	0	0	0	0	0	0	1	15715	697	25	2		2	TCP11L2	12	106715293	Silent	SNP	C	TCGA-59-2363-01A-01W-0799-08	48752480	106715293	27136602	46	22751											
TBX5	6910	broad.mit.edu	37	12	114793544	114793544	+	Silent	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr12:114793544C>T	ENST00000310346.4	-	9	2016	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	TBX5_ENST00000349716.5_Silent_p.L400L|TBX5_ENST00000405440.2_Silent_p.L450L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	450				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L450L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTCCCTCTCCCAGCTGTGGGG	0.662																																					NSCLC(152;1358 1980 4050 23898 40356)											1	Substitution - coding silent(1)	ovary(1)	12											26	28	28					12																	114793544		2203	4300	6503	113277927	SO:0001819	synonymous_variant	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1350G>A	12.37:g.114793544C>T			113277927	A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	CCDS9173.1																																																																																				0.662	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		T	114793544	C	T	114793544	2	4	416	1	0	0	0	0	0	0	0	1	15661	581	21	2		2	TBX5	12	114793544	Silent	SNP	C	TCGA-59-2363-01A-01W-0799-08	8078251	114793544	19058351	47	22752											
KNTC1	9735	broad.mit.edu	37	12	123042002	123042002	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr12:123042002G>C	ENST00000333479.7	+	17	1521	c.1344G>C	c.(1342-1344)caG>caC	p.Q448H	KNTC1_ENST00000450485.2_Missense_Mutation_p.Q411H	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	448					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.Q448H(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCAGTGAACAGACCGAATGGC	0.388																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	12											126	116	119					12																	123042002		1885	4124	6009	121607955	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1344G>C	12.37:g.123042002G>C	ENSP00000328236:p.Gln448His		121607955	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396422	0.11638	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.23552	1.9;2.48	5.74	0.806	0.18708	.	0.332014	0.32357	N	0.006218	T	0.22166	0.0534	L	0.51422	1.61	0.09310	N	0.999991	B;B	0.16603	0.009;0.018	B;B	0.16289	0.015;0.008	T	0.21895	-1.0232	10	0.48119	T	0.1	-0.5724	11.1589	0.48503	0.489:0.0:0.511:0.0	.	411;448	E7ES84;P50748	.;KNTC1_HUMAN	H	411;448	ENSP00000397992:Q411H;ENSP00000328236:Q448H	ENSP00000328236:Q448H	Q	+	3	2	KNTC1	121607955	0.235000	0.23794	0.012000	0.15200	0.099000	0.18886	0.309000	0.19332	0.165000	0.19558	-0.471000	0.05019	CAG		0.388	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			C	123042002	G	C	123042002	3	2	416	1	0	0	0	0	1	0	0	0	8428	933	33	3	1406	3	KNTC1	12	123042002	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	8248458	123042002	10809893	48	22753											
DNAH10	196385	broad.mit.edu	37	12	124332509	124332509	+	Splice_Site	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr12:124332509C>T	ENST00000409039.3	+	32	5487	c.5462C>T	c.(5461-5463)gCg>gTg	p.A1821V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1821	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A413V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTATAACAGGCGCTGTCCATG	0.517																																																1	Substitution - Missense(1)	ovary(1)	12											70	77	75					12																	124332509		1940	4154	6094	122898462	SO:0001630	splice_region_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5461-1C>T	12.37:g.124332509C>T			122898462	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026280	0.93518	.	.	ENSG00000197653	ENST00000409039	T	0.10099	2.91	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000001	T	0.53981	0.1830	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73285	-0.4031	10	0.87932	D	0	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	1821	Q8IVF4	DYH10_HUMAN	V	1821	ENSP00000386770:A1821V	ENSP00000386770:A1821V	A	+	2	0	DNAH10	122898462	1.000000	0.71417	0.962000	0.40283	0.533000	0.34776	7.806000	0.86020	2.678000	0.91216	0.555000	0.69702	GCG		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Missense_Mutation	T	124332509	C	T	124332509	5	4	416	1	0	0	0	0	0	0	1	0	4598	782	27	1	5588	1	DNAH10	12	124332509	Splice_Site	SNP	C	TCGA-59-2363-01A-01W-0799-08	1290507	124332509	9519386	49	22754											
UBC	7316	broad.mit.edu	37	12	125397696	125397696	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr12:125397696G>C	ENST00000536769.1	-	1	2198	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	UBC_ENST00000339647.5_Missense_Mutation_p.L208V|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.L132V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	208	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.L208V(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TAGTCAGACAGGGTACGACCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											174	158	163					12																	125397696		2203	4296	6499	123963649	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.622C>G	12.37:g.125397696G>C	ENSP00000441543:p.Leu208Val		123963649	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	-	11.95	1.791159	0.31685	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000541272	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	2.42	2.42	0.29668	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.41294	U	0.000918	T	0.82213	0.4988	L	0.60455	1.87	0.47276	D	0.999377	B;B;B	0.29805	0.257;0.03;0.257	P;B;P	0.44990	0.466;0.075;0.466	D	0.83988	0.0336	10	0.87932	D	0	.	11.1259	0.48317	0.0:0.0:1.0:0.0	.	297;208;208	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	208;208;132;208;132;132	ENSP00000441543:L208V;ENSP00000344818:L208V;ENSP00000438394:L132V;ENSP00000440205:L132V	ENSP00000344818:L208V	L	-	1	2	UBC	123963649	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.827000	0.62723	1.696000	0.51158	0.543000	0.68304	CTG		0.488	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		C	125397696	G	C	125397696	3	2	416	1	0	0	0	0	1	0	0	0	16842	991	35	3	1439	3	UBC	12	125397696	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	1065187	125397696	8454199	50	22755											
PARP4	143	broad.mit.edu	37	13	25021310	25021310	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr13:25021310C>T	ENST00000381989.3	-	26	3234	c.3129G>A	c.(3127-3129)atG>atA	p.M1043I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1043	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.M1043I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATAGCCTGGTCATTTGGTCTT	0.433																																																1	Substitution - Missense(1)	ovary(1)	13											52	52	52					13																	25021310		2203	4300	6503	23919310	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3129G>A	13.37:g.25021310C>T	ENSP00000371419:p.Met1043Ile		23919310	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762010	0.31228	.	.	ENSG00000102699	ENST00000381989	T	0.19806	2.12	4.71	3.83	0.44106	von Willebrand factor, type A (2);	0.176061	0.53938	N	0.000053	T	0.35189	0.0923	L	0.45137	1.4	0.31052	N	0.715111	D	0.53885	0.963	D	0.69824	0.966	T	0.22765	-1.0207	10	0.35671	T	0.21	-17.5504	12.602	0.56503	0.0:0.8313:0.1687:0.0	.	1043	Q9UKK3	PARP4_HUMAN	I	1043	ENSP00000371419:M1043I	ENSP00000371419:M1043I	M	-	3	0	PARP4	23919310	0.010000	0.17322	0.331000	0.25455	0.424000	0.31475	1.331000	0.33793	1.280000	0.44463	0.644000	0.83932	ATG		0.433	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25021310	C	T	25021310	3	4	416	1	0	0	0	0	1	0	0	0	11463	826	29	2	2081	2	PARP4	13	25021310	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08		25021310	90148568	51	22756											
NBEA	26960	broad.mit.edu	37	13	35622725	35622725	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr13:35622725A>C	ENST00000400445.3	+	5	1283	c.749A>C	c.(748-750)aAg>aCg	p.K250T	NBEA_ENST00000540320.1_Missense_Mutation_p.K250T|NBEA_ENST00000310336.4_Missense_Mutation_p.K250T|NBEA_ENST00000379939.2_Missense_Mutation_p.K250T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	250					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.K250T(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCTATTGCAAAGTGGCCTTAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	13											78	72	74					13																	35622725		1859	4086	5945	34520725	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.749A>C	13.37:g.35622725A>C	ENSP00000383295:p.Lys250Thr		34520725	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553812	0.86231	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.79147	-0.1923	10	0.49607	T	0.09	.	16.0815	0.81007	1.0:0.0:0.0:0.0	.	250	Q5T321	.	T	250	ENSP00000440951:K250T;ENSP00000383295:K250T;ENSP00000369271:K250T;ENSP00000308534:K250T	ENSP00000308534:K250T	K	+	2	0	NBEA	34520725	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.283000	0.95860	2.193000	0.70182	0.454000	0.30748	AAG		0.348	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		C	35622725	A	C	35622725	3	2	416	1	0	0	0	0	1	0	0	0	10187	72	3	5	767	5	NBEA	13	35622725	Missense_Mutation	SNP	A	TCGA-59-2363-01A-01W-0799-08	10601415	35622725	79547153	52	22757											
AKAP6	9472	broad.mit.edu	37	14	33291577	33291577	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr14:33291577C>A	ENST00000280979.4	+	13	4728	c.4558C>A	c.(4558-4560)Cca>Aca	p.P1520T	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1520					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.P1520T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGAGTTACAACCAGATGTACC	0.388																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - Missense(1)	ovary(1)	14											89	90	90					14																	33291577		2203	4299	6502	32361328	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4558C>A	14.37:g.33291577C>A	ENSP00000280979:p.Pro1520Thr		32361328	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016735	0.19355	.	.	ENSG00000151320	ENST00000280979	T	0.05580	3.42	5.79	2.94	0.34122	.	0.195979	0.44097	D	0.000482	T	0.08044	0.0201	M	0.67953	2.075	0.80722	D	1	B	0.17465	0.022	B	0.13407	0.009	T	0.10941	-1.0608	10	0.87932	D	0	-1.1908	5.6587	0.17656	0.1447:0.6419:0.1393:0.0742	.	1520	Q13023	AKAP6_HUMAN	T	1520	ENSP00000280979:P1520T	ENSP00000280979:P1520T	P	+	1	0	AKAP6	32361328	0.955000	0.32602	0.999000	0.59377	0.989000	0.77384	0.485000	0.22324	0.343000	0.23821	0.655000	0.94253	CCA		0.388	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		A	33291577	C	A	33291577	3	1	416	1	0	0	0	0	1	0	0	0	455	507	18	3	4604	3	AKAP6	14	33291577	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08		33291577	74057963	53	22758											
GPHB5	122876	broad.mit.edu	37	14	63784523	63784523	+	RNA	SNP	A	A	G			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr14:63784523A>G	ENST00000539258.1	-	0	97							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.L14P(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AGCCAGAAGGAGGAGGGCCAT	0.577																																																1	Substitution - Missense(1)	ovary(1)	14											42	46	45					14																	63784523		2032	4172	6204	62854276			122876			AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784523A>G			62854276	Q6NTD0|Q8NFW2	Missense_Mutation	SNP	ENST00000539258.1	37																																																																																					0.577	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		G	63784523	A	G	63784523	1	3	416	0	1	0	0	0	0	0	0	0	6609	304	11	4		4	GPHB5	14	63784523	RNA	SNP	A	TCGA-59-2363-01A-01W-0799-08	30492946	63784523	43565017	54	22759											
SPTB	6710	broad.mit.edu	37	14	65263340	65263340	+	Missense_Mutation	SNP	G	G	T	rs557868487		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr14:65263340G>T	ENST00000389721.5	-	10	1308	c.1276C>A	c.(1276-1278)Cgc>Agc	p.R426S	SPTB_ENST00000389720.3_Missense_Mutation_p.R426S|SPTB_ENST00000389722.3_Missense_Mutation_p.R426S|SPTB_ENST00000556626.1_Missense_Mutation_p.R426S|SPTB_ENST00000542895.1_Missense_Mutation_p.R426S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	426					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R426S(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGGTCAAAGCGCCGGGCCAGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	14											64	65	65					14																	65263340		2203	4300	6503	64333093	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1276C>A	14.37:g.65263340G>T	ENSP00000374371:p.Arg426Ser		64333093	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601132	0.87055	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.81	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.87328	2.875	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.79024	-0.1972	10	0.87932	D	0	.	15.329	0.74190	0.0:0.0:0.8593:0.1407	.	426;430	P11277;Q59FP5	SPTB1_HUMAN;.	S	430;426;426;426;426;426	ENSP00000374372:R426S;ENSP00000451752:R426S;ENSP00000374371:R426S;ENSP00000443882:R426S;ENSP00000374370:R426S	ENSP00000374370:R426S	R	-	1	0	SPTB	64333093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.034000	0.57289	1.436000	0.47453	0.655000	0.94253	CGC		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65263340	G	T	65263340	3	4	416	1	0	0	0	0	1	0	0	0	15120	1087	38	3	5883	3	SPTB	14	65263340	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	1478817	65263340	42086200	55	22760											
MYO5C	55930	broad.mit.edu	37	15	52537584	52537584	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr15:52537584C>A	ENST00000261839.7	-	18	2306	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	715	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E715D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTTGCACACCTCCTTTTTAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	15											196	198	197					15																	52537584		1993	4167	6160	50324876	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2145G>T	15.37:g.52537584C>A	ENSP00000261839:p.Glu715Asp		50324876	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774208	0.31411	.	.	ENSG00000128833	ENST00000261839	D	0.95518	-3.73	4.79	1.91	0.25777	Myosin head, motor domain (2);	0.332574	0.31772	N	0.007086	D	0.86719	0.6000	N	0.12961	0.28	0.80722	D	1	B	0.13594	0.008	B	0.16722	0.016	T	0.73799	-0.3869	10	0.13853	T	0.58	.	5.7295	0.18032	0.0:0.6295:0.1397:0.2308	.	715	Q9NQX4	MYO5C_HUMAN	D	715	ENSP00000261839:E715D	ENSP00000261839:E715D	E	-	3	2	MYO5C	50324876	0.998000	0.40836	0.997000	0.53966	0.732000	0.41865	1.251000	0.32862	0.244000	0.21351	0.555000	0.69702	GAG		0.483	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		A	52537584	C	A	52537584	3	1	416	1	0	0	0	0	1	0	0	0	10080	680	24	3	3179	3	MYO5C	15	52537584	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08		52537584	49993808	56	22761											
ADAMTSL3	57188	broad.mit.edu	37	15	84592772	84592772	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr15:84592772C>A	ENST00000286744.5	+	17	2328	c.2104C>A	c.(2104-2106)Ccc>Acc	p.P702T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P702T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	702						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P702T(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TAACACAGAGCCCTGTCCCCC	0.542																																																1	Substitution - Missense(1)	ovary(1)	15											105	73	84					15																	84592772		2203	4300	6503	82383776	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2104C>A	15.37:g.84592772C>A	ENSP00000286744:p.Pro702Thr		82383776	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929046	0.73327	.	.	ENSG00000156218	ENST00000286744	T	0.62498	0.02	5.25	5.25	0.73442	.	0.506617	0.20737	N	0.086613	T	0.81079	0.4748	M	0.84846	2.72	0.50813	D	0.999895	D;D	0.71674	0.998;0.985	D;P	0.76575	0.988;0.756	T	0.83178	-0.0090	10	0.56958	D	0.05	.	15.773	0.78187	0.0:1.0:0.0:0.0	.	702;702	P82987-2;P82987	.;ATL3_HUMAN	T	702	ENSP00000286744:P702T	ENSP00000286744:P702T	P	+	1	0	ADAMTSL3	82383776	0.984000	0.35163	0.995000	0.50966	0.992000	0.81027	2.599000	0.46231	2.451000	0.82905	0.637000	0.83480	CCC		0.542	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		A	84592772	C	A	84592772	3	1	416	1	0	0	0	0	1	0	0	0	276	739	26	3	2166	3	ADAMTSL3	15	84592772	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	32055188	84592772	17938620	57	22762											
ROGDI	79641	broad.mit.edu	37	16	4851545	4851545	+	Silent	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr16:4851545C>T	ENST00000322048.7	-	3	537	c.159G>A	c.(157-159)gaG>gaA	p.E53E	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	53					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.E53E(1)		endometrium(2)|lung(1)|ovary(1)|skin(1)	5						TGGCGGGCCCCTCAGTGCCGG	0.657																																																1	Substitution - coding silent(1)	ovary(1)	16											27	29	28					16																	4851545		2195	4299	6494	4791546	SO:0001819	synonymous_variant	79641			AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.159G>A	16.37:g.4851545C>T			4791546	Q6IA00	Silent	SNP	ENST00000322048.7	37	CCDS10523.1																																																																																				0.657	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251643.3	NM_024589		T	4851545	C	T	4851545	2	4	416	1	0	0	0	0	0	0	0	1	13523	680	24	2		2	ROGDI	16	4851545	Silent	SNP	C	TCGA-59-2363-01A-01W-0799-08		4851545	85503208	58	22763											
NOMO1	23420	broad.mit.edu	37	16	14980653	14980653	+	Silent	SNP	A	A	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr16:14980653A>C	ENST00000287667.7	+	28	3429	c.3258A>C	c.(3256-3258)ccA>ccC	p.P1086P		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1086						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.P1086P(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TCGACAATCCAATCCAGACAG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	16											55	56	56					16																	14980653		2195	4297	6492	14888154	SO:0001819	synonymous_variant	23420			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3258A>C	16.37:g.14980653A>C			14888154	P78421|Q8IW21|Q96DG0	Silent	SNP	ENST00000287667.7	37	CCDS10556.1																																																																																				0.478	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			C	14980653	A	C	14980653	2	2	416	1	0	0	0	0	0	0	0	1	10531	117	5	5		5	NOMO1	16	14980653	Silent	SNP	A	TCGA-59-2363-01A-01W-0799-08	10129108	14980653	75374100	59	22764											
ANKRD11	29123	broad.mit.edu	37	16	89383355	89383355	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr16:89383355G>C	ENST00000301030.4	-	3	533	c.73C>G	c.(73-75)Cag>Gag	p.Q25E	ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000563291.1_Missense_Mutation_p.Q25E|ANKRD11_ENST00000378330.2_Missense_Mutation_p.Q25E	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	25					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q25E(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCCCAGTCTGCTTCTCCACC	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											171	120	137					16																	89383355		2198	4300	6498	87910856	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.73C>G	16.37:g.89383355G>C	ENSP00000301030:p.Gln25Glu		87910856	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989005	0.74589	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.45668	0.89;0.89	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	L	0.43152	1.355	0.80722	D	1	D;P	0.58268	0.982;0.865	D;P	0.67548	0.952;0.759	T	0.52837	-0.8522	10	0.37606	T	0.19	.	18.048	0.89338	0.0:0.0:1.0:0.0	.	25;25	Q9UHR3;Q6UB99	.;ANR11_HUMAN	E	25;25;39	ENSP00000301030:Q25E;ENSP00000367581:Q25E	ENSP00000301030:Q25E	Q	-	1	0	ANKRD11	87910856	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	9.016000	0.93645	2.410000	0.81850	0.455000	0.32223	CAG		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		C	89383355	G	C	89383355	3	2	416	1	0	0	0	0	1	0	0	0	639	1328	46	3	7962	3	ANKRD11	16	89383355	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	74402702	89383355	971398	60	22765											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	416	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-59-2363-01A-01W-0799-08		7578190	73617020	61	22766											
NF1	4763	broad.mit.edu	37	17	29664598	29664598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr17:29664598G>T	ENST00000358273.4	+	43	7023	c.6640G>T	c.(6640-6642)Gag>Tag	p.E2214*	NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Nonsense_Mutation_p.E2193*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2214					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.E2214*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGAGATCATGGAGGTATAGAA	0.343			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17	GRCh37	CD001525	NF1	D							84	85	85					17																	29664598		2203	4300	6503	26688724	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6640G>T	17.37:g.29664598G>T	ENSP00000351015:p.Glu2214*		26688724	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	49	15.967799	0.99850	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.6482	0.95790	0.0:0.0:1.0:0.0	.	.	.	.	X	2214;2193;1859	.	ENSP00000348498:E2193X	E	+	1	0	NF1	26688724	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.245000	0.95431	2.696000	0.92011	0.655000	0.94253	GAG		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29664598	G	T	29664598	4	4	416	1	0	0	0	0	0	1	0	0	10356	1175	41	3	6871	3	NF1	17	29664598	Nonsense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	22086408	29664598	51530612	62	22767											
THEG	51298	broad.mit.edu	37	19	362215	362215	+	Silent	SNP	G	G	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:362215G>A	ENST00000342640.4	-	8	1167	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	THEG_ENST00000346878.2_Silent_p.P351P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	375					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.P375P(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGGCCTGGGTTGATCAC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	19											169	167	167					19																	362215		2203	4300	6503	313215	SO:0001819	synonymous_variant	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1125C>T	19.37:g.362215G>A			313215	A6NMJ8	Silent	SNP	ENST00000342640.4	37	CCDS12025.1																																																																																				0.562	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			A	362215	G	A	362215	2	1	416	1	0	0	0	0	0	0	0	1	15857	1335	47	2		2	THEG	19	362215	Silent	SNP	G	TCGA-59-2363-01A-01W-0799-08		362215	58766768	63	22768											
DENND1C	79958	broad.mit.edu	37	19	6467619	6467619	+	Missense_Mutation	SNP	G	G	A	rs141830432	byFrequency	TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:6467619G>A	ENST00000381480.2	-	23	2414	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S	DENND1C_ENST00000543576.1_Missense_Mutation_p.P724S	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	768					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P768S(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGGGCTCCTGGTTCCTCCCGT	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											30	33	32					19																	6467619		1907	4130	6037	6418619	SO:0001583	missense	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2302C>T	19.37:g.6467619G>A	ENSP00000370889:p.Pro768Ser		6418619	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742570	0.30865	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.08984	3.2;3.03	4.62	-0.538	0.11868	.	2.972360	0.01558	N	0.020014	T	0.04543	0.0124	N	0.24115	0.695	0.09310	N	1	B	0.29432	0.244	B	0.17098	0.017	T	0.26950	-1.0088	10	0.07644	T	0.81	0.8223	2.683	0.05100	0.1045:0.3524:0.3622:0.1808	.	768	Q8IV53	DEN1C_HUMAN	S	768;724	ENSP00000370889:P768S;ENSP00000437805:P724S	ENSP00000370889:P768S	P	-	1	0	DENND1C	6418619	0.001000	0.12720	0.001000	0.08648	0.179000	0.23085	0.407000	0.21049	0.424000	0.26061	0.306000	0.20318	CCA		0.622	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		A	6467619	G	A	6467619	3	1	416	1	0	0	0	0	1	0	0	0	4428	1261	44	2	107	2	DENND1C	19	6467619	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	6105404	6467619	52661364	64	22769											
EMR3	84658	broad.mit.edu	37	19	14754967	14754967	+	Missense_Mutation	SNP	A	A	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:14754967A>T	ENST00000253673.5	-	9	1103	c.1003T>A	c.(1003-1005)Tgc>Agc	p.C335S	EMR3_ENST00000443157.2_Missense_Mutation_p.C209S|EMR3_ENST00000599900.1_Missense_Mutation_p.C120S|EMR3_ENST00000344373.4_Missense_Mutation_p.C283S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	335	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.C335S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGTGACTGCAATTACACATG	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											116	96	103					19																	14754967		2203	4300	6503	14615967	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1003T>A	19.37:g.14754967A>T	ENSP00000253673:p.Cys335Ser		14615967		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	a	11.34	1.610320	0.28712	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	D;D;D	0.90504	-2.68;-2.68;-2.68	3.3	-0.138	0.13464	GPS domain (3);	.	.	.	.	D	0.90031	0.6887	M	0.68952	2.095	0.09310	N	1	B;B;P	0.40000	0.09;0.011;0.698	B;B;P	0.48524	0.122;0.031;0.58	T	0.81378	-0.0960	9	0.54805	T	0.06	.	4.6611	0.12643	0.4242:0.388:0.0:0.1878	.	209;283;335	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	S	209;335;283	ENSP00000396208:C209S;ENSP00000253673:C335S;ENSP00000340758:C283S	ENSP00000253673:C335S	C	-	1	0	EMR3	14615967	0.683000	0.27633	0.000000	0.03702	0.001000	0.01503	3.974000	0.56852	-0.220000	0.09988	0.520000	0.50463	TGC		0.507	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		T	14754967	A	T	14754967	3	4	416	1	0	0	0	0	1	0	0	0	5106	130	5	5	987	5	EMR3	19	14754967	Missense_Mutation	SNP	A	TCGA-59-2363-01A-01W-0799-08	8287348	14754967	44374016	65	22770											
LRFN1	57622	broad.mit.edu	37	19	39804672	39804672	+	Silent	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:39804672C>T	ENST00000248668.4	-	1	1304	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	435	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S387S(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCACGGAGTTCGAGGTGAGCT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19											27	34	31					19																	39804672		2060	4192	6252	44496512	SO:0001819	synonymous_variant	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1305G>A	19.37:g.39804672C>T			44496512	Q8TBS9	Silent	SNP	ENST00000248668.4	37	CCDS46071.1																																																																																				0.632	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		T	39804672	C	T	39804672	2	4	416	1	0	0	0	0	0	0	0	1	8937	871	31	1		1	LRFN1	19	39804672	Silent	SNP	C	TCGA-59-2363-01A-01W-0799-08	25049705	39804672	19324311	66	22771											
LYPD4	147719	broad.mit.edu	37	19	42341283	42341283	+	Silent	SNP	T	T	G			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:42341283T>G	ENST00000330743.3	-	5	1886	c.675A>C	c.(673-675)gcA>gcC	p.A225A	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.A190A|LYPD4_ENST00000601246.1_Silent_p.A190A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	225						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A225A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TGGAGGATGCTGCACCAACAA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	19											150	137	142					19																	42341283		2203	4300	6503	47033123	SO:0001819	synonymous_variant	147719			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.675A>C	19.37:g.42341283T>G			47033123	Q8IYW0	Silent	SNP	ENST00000330743.3	37	CCDS12587.1																																																																																				0.498	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		G	42341283	T	G	42341283	2	3	416	1	0	0	0	0	0	0	0	1	9112	1567	55	5		5	LYPD4	19	42341283	Silent	SNP	T	TCGA-59-2363-01A-01W-0799-08	2536611	42341283	16787700	67	22772											
CD3EAP	10849	broad.mit.edu	37	19	45910426	45910426	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:45910426G>A	ENST00000309424.3	+	2	585	c.97G>A	c.(97-99)Gag>Aag	p.E33K	ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000360957.5_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.E35K|PPP1R13L_ENST00000418234.2_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	33					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.E33K(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TTTCTCCTTGGAGGCGCTGAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											76	76	76					19																	45910426		2203	4300	6503	50602266	SO:0001583	missense	10849			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.97G>A	19.37:g.45910426G>A	ENSP00000310966:p.Glu33Lys		50602266	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789677	0.90367	.	.	ENSG00000117877	ENST00000309424	T	0.15256	2.44	5.39	5.39	0.77823	.	0.260360	0.32106	N	0.006576	T	0.22322	0.0538	L	0.32530	0.975	0.37519	D	0.917456	P;P	0.50943	0.94;0.901	P;P	0.51135	0.66;0.458	T	0.02294	-1.1181	10	0.51188	T	0.08	-27.1184	14.6453	0.68756	0.0:0.0:1.0:0.0	.	35;33	O15446-2;O15446	.;RPA34_HUMAN	K	33	ENSP00000310966:E33K	ENSP00000310966:E33K	E	+	1	0	CD3EAP	50602266	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	4.211000	0.58507	2.517000	0.84864	0.561000	0.74099	GAG		0.592	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		A	45910426	G	A	45910426	3	1	416	1	0	0	0	0	1	0	0	0	3012	1175	41	2	103	2	CD3EAP	19	45910426	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	3569143	45910426	13218557	68	22773											
GPR4	2828	broad.mit.edu	37	19	46094179	46094179	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:46094179T>C	ENST00000323040.4	-	2	1890	c.946A>G	c.(946-948)Atg>Gtg	p.M316V	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	316					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M316V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCATTGGCCATCTCCTGGGGC	0.657																																					Esophageal Squamous(117;181 1612 1673 14956 42937)											1	Substitution - Missense(1)	ovary(1)	19											84	78	80					19																	46094179		2203	4300	6503	50786019	SO:0001583	missense	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.946A>G	19.37:g.46094179T>C	ENSP00000319744:p.Met316Val		50786019	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	T	9.919	1.211753	0.22289	.	.	ENSG00000177464	ENST00000323040	T	0.60548	0.18	4.53	4.53	0.55603	.	0.083842	0.51477	D	0.000100	T	0.34308	0.0893	N	0.08118	0	0.28454	N	0.91621	B	0.11235	0.004	B	0.06405	0.002	T	0.16541	-1.0399	10	0.28530	T	0.3	.	10.1691	0.42900	0.0:0.0:0.0:1.0	.	316	P46093	GPR4_HUMAN	V	316	ENSP00000319744:M316V	ENSP00000319744:M316V	M	-	1	0	GPR4	50786019	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.647000	0.54403	1.908000	0.55244	0.374000	0.22700	ATG		0.657	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		C	46094179	T	C	46094179	3	2	416	1	0	0	0	0	1	0	0	0	6694	1435	50	4	146	4	GPR4	19	46094179	Missense_Mutation	SNP	T	TCGA-59-2363-01A-01W-0799-08	183753	46094179	13034804	69	22774											
LILRB3	11025	broad.mit.edu	37	19	54724540	54724540	+	Silent	SNP	G	G	A	rs371484692		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:54724540G>A	ENST00000391750.1	-	7	1252	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Silent_p.Y372Y|LILRB3_ENST00000424807.1_Silent_p.Y372Y|LILRA6_ENST00000270464.5_Silent_p.Y372Y|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Silent_p.Y372Y|LILRB3_ENST00000346401.6_Silent_p.Y372Y|LILRB3_ENST00000407860.2_Silent_p.Y372Y			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	372	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y372Y(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TATGAGCTCCGTACATTGATC	0.567													.|||	1	0.000199681	8e-04	0	5008	,	,		19665	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	19						G	,	1,4397		0,1,2198	72	53	60		1116,1116	2.7	0	19		60	0,8380		0,0,4190	no	coding-synonymous,coding-synonymous	LILRB3	NM_001081450.1,NM_006864.2	,	0,1,6388	AA,AG,GG		0.0,0.0227,0.0078	,	372/633,372/632	54724540	1,12777	2199	4190	6389	59416352	SO:0001819	synonymous_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1116C>T	19.37:g.54724540G>A			59416352	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																				0.567	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		A	54724540	G	A	54724540	2	1	416	1	0	0	0	0	0	0	0	1	8792	1140	40	1		1	LILRB3	19	54724540	Silent	SNP	G	TCGA-59-2363-01A-01W-0799-08	8630361	54724540	4404443	70	22775											
LILRB1	10859	broad.mit.edu	37	19	55144601	55144601	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:55144601G>A	ENST00000396331.1	+	8	1450	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	LILRB1_ENST00000396317.1_Missense_Mutation_p.D365N|LILRB1_ENST00000396327.3_Missense_Mutation_p.D365N|LILRB1_ENST00000427581.2_Missense_Mutation_p.D401N|LILRB1_ENST00000396321.2_Missense_Mutation_p.D365N|LILRB1_ENST00000396332.4_Missense_Mutation_p.D365N|LILRB1_ENST00000418536.2_Missense_Mutation_p.D365N|LILRB1_ENST00000324602.7_Missense_Mutation_p.D365N|LILRB1_ENST00000396315.1_Missense_Mutation_p.D365N|LILRB1_ENST00000434867.2_Missense_Mutation_p.D365N|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_Missense_Mutation_p.D365N	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	365	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.D365N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCAGCTGATGACCCATGGCG	0.572										HNSCC(37;0.09)																																						1	Substitution - Missense(1)	ovary(1)	19											107	116	113					19																	55144601		2203	4300	6503	59836413	SO:0001583	missense	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1093G>A	19.37:g.55144601G>A	ENSP00000379622:p.Asp365Asn		59836413	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	7.933	0.741200	0.15642	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02837	4.14;4.14;4.14;4.14;4.14;4.14;4.14;4.14;4.14;4.14;4.14	1.52	-3.05	0.05396	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.354250	0.01857	N	0.036378	T	0.02688	0.0081	L	0.28192	0.835	0.09310	N	1	B;B;B;B;B	0.11235	0.001;0.001;0.004;0.001;0.001	B;B;B;B;B	0.09377	0.001;0.001;0.004;0.003;0.002	T	0.45352	-0.9267	10	0.62326	D	0.03	.	4.5223	0.11964	0.2218:0.3166:0.4616:0.0	.	365;365;365;365;365	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	N	365;365;365;365;365;365;365;365;401;365;365	ENSP00000379614:D365N;ENSP00000391514:D365N;ENSP00000409968:D365N;ENSP00000379622:D365N;ENSP00000379618:D365N;ENSP00000315997:D365N;ENSP00000405243:D365N;ENSP00000379623:D365N;ENSP00000395004:D401N;ENSP00000379610:D365N;ENSP00000379608:D365N	ENSP00000315997:D365N	D	+	1	0	LILRB1	59836413	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.812000	0.01726	-1.009000	0.03400	0.205000	0.17691	GAC		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			A	55144601	G	A	55144601	3	1	416	1	0	0	0	0	1	0	0	0	8790	1290	45	2	1115	2	LILRB1	19	55144601	Missense_Mutation	SNP	G	TCGA-59-2363-01A-01W-0799-08	420061	55144601	3984382	71	22776											
ISOC2	79763	broad.mit.edu	37	19	55966409	55966409	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr19:55966409C>T	ENST00000425675.2	-	5	544	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	ISOC2_ENST00000085068.3_Missense_Mutation_p.E178K|ISOC2_ENST00000438389.2_Missense_Mutation_p.E92K			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	162					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E178K(1)		endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		ATGAGCCCTTCGCTGGTGGAG	0.647											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	19											46	44	44					19																	55966409		2203	4300	6503	60658221	SO:0001583	missense	79763			AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.484G>A	19.37:g.55966409C>T	ENSP00000401726:p.Glu162Lys	1011	60658221	Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314927	0.81358	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.03	4.03	0.46877	Isochorismatase-like (3);	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	H	0.95004	3.61	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.997	D;P;P	0.64237	0.923;0.891;0.778	D	0.89396	0.3692	9	0.87932	D	0	-16.8549	14.0504	0.64732	0.0:1.0:0.0:0.0	.	92;162;178	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	K	178;162;92	.	ENSP00000085068:E178K	E	-	1	0	ISOC2	60658221	1.000000	0.71417	0.350000	0.25708	0.595000	0.36748	6.657000	0.74402	1.981000	0.57761	0.491000	0.48974	GAA		0.647	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		T	55966409	C	T	55966409	3	4	416	1	0	0	0	0	1	0	0	0	7863	893	31	1	141	1	ISOC2	19	55966409	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	821808	55966409	3162574	72	22777											
SRXN1	140809	broad.mit.edu	37	20	633635	633635	+	Silent	SNP	G	G	C	rs373618818		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr20:633635G>C	ENST00000381962.3	-	1	379	c.195C>G	c.(193-195)ctC>ctG	p.L65L	RP5-850E9.3_ENST00000488788.2_Intron	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	65					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)	p.L65L(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						TCGTGTCCACGAGGCTCTGCA	0.706																																																1	Substitution - coding silent(1)	ovary(1)	20											12	12	12					20																	633635		2181	4266	6447	581635	SO:0001819	synonymous_variant	140809			AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 139", "sulfiredoxin 1 homolog (S. cerevisiae)"	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.195C>G	20.37:g.633635G>C			581635	B2R543|Q8NDM3|Q96AK6	Silent	SNP	ENST00000381962.3	37	CCDS13005.1																																																																																				0.706	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725		C	633635	G	C	633635	2	2	416	1	0	0	0	0	0	0	0	1	15175	1045	37	3		3	SRXN1	20	633635	Silent	SNP	G	TCGA-59-2363-01A-01W-0799-08		633635	62391885	73	22778											
FAM113A	64773	broad.mit.edu	37	20	2819340	2819340	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr20:2819340C>T	ENST00000360652.2	-	5	998	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PCED1A_ENST00000356872.3_Missense_Mutation_p.V115M|VPS16_ENST00000380445.3_5'Flank|VPS16_ENST00000380469.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	166								p.V166L(1)|p.V166M(1)									TCCATGCGCACAAACACCCGC	0.587																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	20											185	161	169					20																	2819340		2203	4300	6503	2767340	SO:0001583	missense	64773			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.496G>A	20.37:g.2819340C>T	ENSP00000353868:p.Val166Met		2767340	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370167	0.42003	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	3.89	1.71	0.24356	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.574287	0.16686	N	0.203751	T	0.05868	0.0153	N	0.02011	-0.69	0.09310	N	0.999999	B;B	0.13594	0.008;0.003	B;B	0.17979	0.018;0.02	T	0.33240	-0.9876	10	0.42905	T	0.14	-1.9224	6.0824	0.19948	0.0:0.7322:0.0:0.2678	.	115;166	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	M	115;166;115;166	ENSP00000349334:V115M;ENSP00000353868:V166M;ENSP00000388935:V115M;ENSP00000401711:V166M	ENSP00000349334:V115M	V	-	1	0	FAM113A	2767340	0.000000	0.05858	0.919000	0.36401	0.910000	0.53928	-0.106000	0.10890	0.338000	0.23692	0.462000	0.41574	GTG		0.587	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		T	2819340	C	T	2819340	3	4	416	1	0	0	0	0	1	0	0	0	5401	478	17	2	884	2	FAM113A	20	2819340	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	2185705	2819340	60206180	74	22779											
CDH22	64405	broad.mit.edu	37	20	44815302	44815302	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr20:44815302C>A	ENST00000372262.3	-	9	1988	c.1588G>T	c.(1588-1590)Ggc>Tgc	p.G530C	CDH22_ENST00000537909.1_Missense_Mutation_p.G530C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G530C(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGTGCCCGCCTTGGGGCTCG	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											72	68	70					20																	44815302		2203	4300	6503	44248709	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1588G>T	20.37:g.44815302C>A	ENSP00000361336:p.Gly530Cys		44248709	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980013	0.53827	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.52754	0.65;0.65	4.38	2.27	0.28462	Cadherin (4);Cadherin-like (1);	0.243205	0.35525	N	0.003157	T	0.50650	0.1628	L	0.59436	1.845	0.09310	N	1	D	0.56968	0.978	P	0.54372	0.75	T	0.39901	-0.9591	10	0.72032	D	0.01	.	5.8691	0.18793	0.1549:0.6669:0.0:0.1783	.	530	Q9UJ99	CAD22_HUMAN	C	530	ENSP00000361336:G530C;ENSP00000437790:G530C	ENSP00000361336:G530C	G	-	1	0	CDH22	44248709	0.000000	0.05858	0.998000	0.56505	0.977000	0.68977	-0.564000	0.05936	0.844000	0.35094	0.442000	0.29010	GGC		0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		A	44815302	C	A	44815302	3	1	416	1	0	0	0	0	1	0	0	0	3107	681	24	3	910	3	CDH22	20	44815302	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08	41995962	44815302	18210218	75	22780											
CLTCL1	8218	broad.mit.edu	37	22	19196458	19196458	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr22:19196458T>A	ENST00000263200.10	-	21	3488	c.3416A>T	c.(3415-3417)gAa>gTa	p.E1139V	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1139V|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1139V|CLTCL1_ENST00000442042.2_5'Flank	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1139	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.E1139V(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTGAACAACTTCCAGGTAAGA	0.532			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - Missense(1)	ovary(1)	22											60	61	61					22																	19196458		1984	4154	6138	17576458	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3416A>T	22.37:g.19196458T>A	ENSP00000445677:p.Glu1139Val		17576458	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.726201	0.69074	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21191	2.02;2.02;2.02	3.85	2.79	0.32731	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.065700	0.64402	D	0.000014	T	0.45074	0.1324	M	0.89715	3.055	0.58432	D	0.999999	B;P	0.40794	0.166;0.729	B;P	0.53490	0.422;0.727	T	0.46582	-0.9181	10	0.72032	D	0.01	-4.647	10.1833	0.42982	0.0:0.0:0.168:0.832	.	1139;1139	P53675-2;P53675	.;CLH2_HUMAN	V	1139	ENSP00000439662:E1139V;ENSP00000445677:E1139V;ENSP00000441158:E1139V	ENSP00000445677:E1139V	E	-	2	0	CLTCL1	17576458	1.000000	0.71417	0.483000	0.27378	0.925000	0.55904	5.349000	0.66010	0.505000	0.28104	0.533000	0.62120	GAA		0.532	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19196458	T	A	19196458	3	1	416	1	0	0	0	0	1	0	0	0	3567	1783	62	5	1554	5	CLTCL1	22	19196458	Missense_Mutation	SNP	T	TCGA-59-2363-01A-01W-0799-08		19196458	32108108	76	22781											
TYMP	1890	broad.mit.edu	37	22	50966138	50966138	+	Silent	SNP	C	C	T			TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chr22:50966138C>T	ENST00000252029.3	-	5	687	c.525G>A	c.(523-525)gtG>gtA	p.V175V	SCO2_ENST00000535425.1_5'Flank|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000252785.3_5'Flank|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395681.1_Silent_p.V175V|SCO2_ENST00000395693.3_5'Flank|TYMP_ENST00000395678.3_Silent_p.V175V|TYMP_ENST00000395680.1_Silent_p.V175V	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	175					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)	p.V175V(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GGTCCAGCAGCACTTGCATCT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	22											76	75	76					22																	50966138		2203	4300	6503	49313004	SO:0001819	synonymous_variant	1890			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.525G>A	22.37:g.50966138C>T			49313004	A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	ENST00000252029.3	37	CCDS14096.1																																																																																				0.488	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		T	50966138	C	T	50966138	2	4	416	1	0	0	0	0	0	0	0	1	16811	697	25	2		2	TYMP	22	50966138	Silent	SNP	C	TCGA-59-2363-01A-01W-0799-08	31769680	50966138	338428	77	22782											
MAGEB2	4113	broad.mit.edu	37	X	30236764	30236764	+	Missense_Mutation	SNP	C	C	T	rs369826731		TCGA-59-2363-01A-01W-0799-08	TCGA-59-2363-10A-01W-0800-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9b04ed4b-b473-4ff9-8653-693f85eff8de	36d72fbc-b69a-44c2-8805-04e660672c7e	g.chrX:30236764C>T	ENST00000378988.4	+	2	168	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	23								p.R23W(1)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGATGAGACCCGGGGTCTCAA	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											36	35	36					X																	30236764		2202	4300	6502	30146685	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.67C>T	X.37:g.30236764C>T	ENSP00000368273:p.Arg23Trp		30146685	O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549596	0.45383	.	.	ENSG00000099399	ENST00000378988	T	0.04706	3.57	3.43	2.52	0.30459	Melanoma associated antigen, MAGE, N-terminal (1);	0.653207	0.14428	N	0.320189	T	0.05456	0.0144	N	0.19112	0.55	0.09310	N	1	P	0.49253	0.921	P	0.49301	0.606	T	0.34601	-0.9822	10	0.87932	D	0	.	6.9911	0.24755	0.2706:0.7294:0.0:0.0	.	23	O15479	MAGB2_HUMAN	W	23	ENSP00000368273:R23W	ENSP00000368273:R23W	R	+	1	2	MAGEB2	30146685	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.408000	0.21065	0.778000	0.33520	0.513000	0.50165	CGG		0.572	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		T	30236764	C	T	30236764	3	4	416	1	0	0	0	0	1	0	0	0	9176	643	23	1	69	1	MAGEB2	23	30236764	Missense_Mutation	SNP	C	TCGA-59-2363-01A-01W-0799-08		30236764	125033796	78	22783											
CAMTA1	23261	genome.wustl.edu	37	1	7723535	7723535	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:7723535G>C	ENST00000303635.7	+	9	1135	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E310Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGACGTGTCGGAGGGCAAGCA	0.637			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1											102	101	101					1																	7723535		2203	4300	6503	7646122	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.928G>C	1.37:g.7723535G>C	ENSP00000306522:p.Glu310Gln		7646122	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	13.09	2.133419	0.37630	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.27256	1.68;1.68	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	L	0.61218	1.895	0.48901	D	0.999724	D	0.69078	0.997	D	0.75484	0.986	T	0.39603	-0.9606	10	0.34782	T	0.22	-20.1914	18.0692	0.89400	0.0:0.0:1.0:0.0	.	310	Q9Y6Y1	CMTA1_HUMAN	Q	310	ENSP00000306522:E310Q;ENSP00000402561:E310Q	ENSP00000306522:E310Q	E	+	1	0	CAMTA1	7646122	1.000000	0.71417	0.929000	0.37066	0.194000	0.23727	9.695000	0.98691	2.271000	0.75665	0.549000	0.68633	GAG		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		C	7723535	G	C	7723535	3	2	417	1	0	0	0	0	1	0	0	0	2613	1175	41	3	962	3	CAMTA1	1	7723535	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09		7723535	241527086	1	22784											
ROR1	4919	genome.wustl.edu	37	1	64643492	64643492	+	Missense_Mutation	SNP	G	G	A	rs374512783		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:64643492G>A	ENST00000371079.1	+	9	2143	c.1768G>A	c.(1768-1770)Gga>Aga	p.G590R	ROR1_ENST00000545203.1_Missense_Mutation_p.G41R	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.G590R(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCTGGACCACGGAGATTTTCT	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		20528	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	large_intestine(1)	1						G	ARG/GLY	0,4406		0,0,2203	70	73	72		1768	6	0.7	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROR1	NM_005012.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	590/938	64643492	1,13005	2203	4300	6503	64416080	SO:0001583	missense	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1768G>A	1.37:g.64643492G>A	ENSP00000360120:p.Gly590Arg		64416080	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987330	0.53934	0.0	1.16E-4	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	D;D	0.82081	-1.57;-1.57	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42682	D	0.000666	T	0.58666	0.2138	N	0.04387	-0.21	0.80722	D	1	P	0.39060	0.657	B	0.38020	0.263	T	0.65084	-0.6254	10	0.23302	T	0.38	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	590	Q01973	ROR1_HUMAN	R	590;593;41	ENSP00000360120:G590R;ENSP00000441637:G41R	ENSP00000360120:G590R	G	+	1	0	ROR1	64416080	1.000000	0.71417	0.670000	0.29842	0.988000	0.76386	6.361000	0.73070	2.836000	0.97738	0.655000	0.94253	GGA		0.478	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		A	64643492	G	A	64643492	3	1	417	1	0	0	0	0	1	0	0	0	13529	1117	39	1	1810	1	ROR1	1	64643492	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	56919957	64643492	184607129	2	22785											
GBP4	115361	genome.wustl.edu	37	1	89655818	89655818	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:89655818A>G	ENST00000355754.6	-	7	1197	c.1100T>C	c.(1099-1101)cTg>cCg	p.L367P		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	367						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CACGTCCAGCAGCTCCTGGAG	0.572																																																0			1											81	76	78					1																	89655818		2203	4300	6503	89428406	SO:0001583	missense	115361			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1100T>C	1.37:g.89655818A>G	ENSP00000359490:p.Leu367Pro		89428406	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.438288	0.62955	.	.	ENSG00000162654	ENST00000355754	T	0.71222	-0.55	5.07	3.93	0.45458	Guanylate-binding protein, C-terminal (3);	0.081833	0.49916	D	0.000126	D	0.84982	0.5593	H	0.96080	3.765	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	D	0.88078	0.2805	10	0.87932	D	0	.	10.519	0.44907	0.8369:0.1631:0.0:0.0	.	367	Q96PP9	GBP4_HUMAN	P	367	ENSP00000359490:L367P	ENSP00000359490:L367P	L	-	2	0	GBP4	89428406	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	3.752000	0.55172	1.044000	0.40200	0.533000	0.62120	CTG		0.572	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		G	89655818	A	G	89655818	3	3	417	1	0	0	0	0	1	0	0	0	6276	188	7	4	842	4	GBP4	1	89655818	Missense_Mutation	SNP	A	TCGA-59-2372-01A-01D-1526-09	25012326	89655818	159594803	3	22786											
UFC1	51506	genome.wustl.edu	37	1	161127060	161127060	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:161127060T>G	ENST00000368003.5	+	3	454	c.208T>G	c.(208-210)Tgg>Ggg	p.W70G	USP21_ENST00000289865.8_5'Flank|UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_5'Flank|USP21_ENST00000368002.3_5'Flank	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	70					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGAAAATGCTGGTATATCCA	0.433																																																0			1											232	232	232					1																	161127060		2203	4300	6503	159393684	SO:0001583	missense	51506			AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.208T>G	1.37:g.161127060T>G	ENSP00000356982:p.Trp70Gly		159393684	A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Missense_Mutation	SNP	ENST00000368003.5	37	CCDS1220.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820487	0.71028	.	.	ENSG00000143222	ENST00000368003	T	0.60040	0.22	5.43	5.43	0.79202	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	T	0.77458	0.4133	M	0.92604	3.325	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.83917	0.0299	10	0.87932	D	0	-8.7911	14.4807	0.67579	0.0:0.0:0.0:1.0	.	70	Q9Y3C8	UFC1_HUMAN	G	70	ENSP00000356982:W70G	ENSP00000356982:W70G	W	+	1	0	UFC1	159393684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.580000	0.74040	2.061000	0.61500	0.533000	0.62120	TGG		0.433	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080810.1	NM_016406		G	161127060	T	G	161127060	3	3	417	1	0	0	0	0	1	0	0	0	16934	1580	55	5	218	5	UFC1	1	161127060	Missense_Mutation	SNP	T	TCGA-59-2372-01A-01D-1526-09	71471242	161127060	88123561	4	22787											
TOR3A	64222	genome.wustl.edu	37	1	179063255	179063255	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:179063255G>C	ENST00000367627.3	+	5	1598	c.846G>C	c.(844-846)gaG>gaC	p.E282D	TOR3A_ENST00000352445.6_Missense_Mutation_p.E282D	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	282					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TAATCAATGAGGTGGTCCTAA	0.463																																																0			1											98	98	98					1																	179063255		2203	4300	6503	177329878	SO:0001583	missense	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.846G>C	1.37:g.179063255G>C	ENSP00000356599:p.Glu282Asp		177329878	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042135	0.35989	.	.	ENSG00000186283	ENST00000367627;ENST00000352445;ENST00000447595	T;T;T	0.64438	1.52;1.52;-0.1	5.55	2.23	0.28157	.	0.148383	0.64402	D	0.000013	T	0.48677	0.1513	L	0.48877	1.53	0.48452	D	0.999654	B	0.32653	0.379	B	0.26517	0.07	T	0.42344	-0.9457	10	0.35671	T	0.21	-12.4954	9.6637	0.39972	0.2568:0.0:0.7432:0.0	.	282	Q9H497	TOR3A_HUMAN	D	282;282;174	ENSP00000356599:E282D;ENSP00000335351:E282D;ENSP00000410195:E174D	ENSP00000335351:E282D	E	+	3	2	TOR3A	177329878	0.783000	0.28701	0.989000	0.46669	0.930000	0.56654	-0.184000	0.09698	0.718000	0.32166	0.561000	0.74099	GAG		0.463	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179063255	G	C	179063255	3	2	417	1	0	0	0	0	1	0	0	0	16376	991	35	3	864	3	TOR3A	1	179063255	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	17936195	179063255	70187366	5	22788											
TOR1AIP1	26092	genome.wustl.edu	37	1	179858456	179858456	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:179858456G>T	ENST00000606911.2	+	3	753	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.D189Y|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.D67Y|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.D189Y			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	188					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AGTGAGTGAAGATCTTGTAAT	0.303																																																0			1											120	119	120					1																	179858456		2203	4298	6501	178125079	SO:0001583	missense	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.562G>T	1.37:g.179858456G>T	ENSP00000476687:p.Asp188Tyr		178125079	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.559573|3.559573	0.65538|0.65538	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319|ENST00000527391	T;T;T|.	0.27402|.	1.67;1.67;1.67|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.363229|.	0.23640|.	N|.	0.046025|.	T|T	0.71978|0.71978	0.3404|0.3404	M|M	0.66939|0.66939	2.045|2.045	0.38071|0.38071	D|D	0.936373|0.936373	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.73849|0.73849	-0.3853|-0.3853	9|5	.|.	.|.	.|.	-11.024|-11.024	14.7301|14.7301	0.69374|0.69374	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	188;189|.	Q5JTV8;E9PKD1|.	TOIP1_HUMAN;.|.	Y|I	189;188;189;188|64	ENSP00000435365:D189Y;ENSP00000271583:D189Y;ENSP00000393292:D188Y|.	.|.	D|R	+|+	1|2	0|0	TOR1AIP1|TOR1AIP1	178125079|178125079	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.081000|0.081000	0.17604|0.17604	4.200000|4.200000	0.58433|0.58433	2.598000|2.598000	0.87819|0.87819	0.557000|0.557000	0.71058|0.71058	GAT|AGA		0.303	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		T	179858456	G	T	179858456	3	4	417	1	0	0	0	0	1	0	0	0	16372	942	33	3	572	3	TOR1AIP1	1	179858456	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	795201	179858456	69392165	6	22789											
C1orf25	81627	genome.wustl.edu	37	1	185109229	185109229	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:185109229C>A	ENST00000367506.5	-	8	1253	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L	TRMT1L_ENST00000367504.3_Missense_Mutation_p.V173L	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	329	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTACTGTCCACCACCACTTTC	0.348																																																0			1											153	143	147					1																	185109229		2203	4299	6502	183375852	SO:0001583	missense	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.985G>T	1.37:g.185109229C>A	ENSP00000356476:p.Val329Leu		183375852	Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	8.036	0.762728	0.15914	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	5.92	2.64	0.31445	.	0.669278	0.16096	N	0.229825	T	0.13670	0.0331	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12243	-1.0555	9	0.44086	T	0.13	-1.3663	2.2796	0.04111	0.2775:0.3843:0.2054:0.1327	.	329	Q7Z2T5	TRM1L_HUMAN	L	173;329	.	ENSP00000356474:V173L	V	-	1	0	TRMT1L	183375852	0.197000	0.23362	0.043000	0.18650	0.535000	0.34838	0.558000	0.23469	0.765000	0.33221	0.467000	0.42956	GTG		0.348	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		A	185109229	C	A	185109229	3	1	417	1	0	0	0	0	1	0	0	0	2034	507	18	3	1248	3	C1orf25	1	185109229	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	5250773	185109229	64141392	7	22790											
PLXNA2	5362	genome.wustl.edu	37	1	208215600	208215600	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:208215600T>G	ENST00000367033.3	-	22	4886	c.4129A>C	c.(4129-4131)Agt>Cgt	p.S1377R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1377					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGGAGAAACTGCGCTGCAGC	0.612																																																0			1											106	104	105					1																	208215600		2203	4300	6503	206282223	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4129A>C	1.37:g.208215600T>G	ENSP00000356000:p.Ser1377Arg		206282223	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659222	0.67586	.	.	ENSG00000076356	ENST00000367033	T	0.12361	2.69	5.15	5.15	0.70609	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.124809	0.85682	D	0.000000	T	0.41442	0.1159	M	0.85197	2.74	0.58432	D	0.999997	D	0.69078	0.997	D	0.69824	0.966	T	0.46076	-0.9217	10	0.62326	D	0.03	.	14.9889	0.71371	0.0:0.0:0.0:1.0	.	1377	O75051	PLXA2_HUMAN	R	1377	ENSP00000356000:S1377R	ENSP00000356000:S1377R	S	-	1	0	PLXNA2	206282223	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	6.072000	0.71238	1.937000	0.56155	0.374000	0.22700	AGT		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		G	208215600	T	G	208215600	3	3	417	1	0	0	0	0	1	0	0	0	12120	1580	55	5	1599	5	PLXNA2	1	208215600	Missense_Mutation	SNP	T	TCGA-59-2372-01A-01D-1526-09	23106371	208215600	41035021	8	22791											
ARID4B	51742	genome.wustl.edu	37	1	235345708	235345708	+	Missense_Mutation	SNP	C	C	G	rs145247695		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:235345708C>G	ENST00000264183.3	-	20	3023	c.2526G>C	c.(2524-2526)aaG>aaC	p.K842N	ARID4B_ENST00000366603.2_Missense_Mutation_p.K842N|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.K756N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	842					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCTTCTCTTCCTTTTTGCCAG	0.373																																																0			1											226	225	225					1																	235345708		2203	4299	6502	233412331	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2526G>C	1.37:g.235345708C>G	ENSP00000264183:p.Lys842Asn		233412331	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.012|4.012	-0.000453|-0.000453	0.07819|0.07819	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.24538|.	1.85;1.86;1.86|.	5.62|5.62	4.52|4.52	0.55395|0.55395	.|.	0.423784|.	0.27354|.	N|.	0.019760|.	T|T	0.33904|0.33904	0.0879|0.0879	N|N	0.14661|0.14661	0.345|0.345	0.34771|0.34771	D|D	0.733706|0.733706	D;B;D;B|.	0.89917|.	1.0;0.11;1.0;0.006|.	D;B;D;B|.	0.83275|.	0.996;0.018;0.996;0.006|.	T|T	0.38845|0.38845	-0.9642|-0.9642	10|5	0.42905|.	T|.	0.14|.	-14.854|-14.854	10.0144|10.0144	0.42006|0.42006	0.1403:0.7781:0.0:0.0817|0.1403:0.7781:0.0:0.0817	.|.	523;842;756;842|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	N|T	842;756;842;842|242	ENSP00000264184:K756N;ENSP00000355562:K842N;ENSP00000264183:K842N|.	ENSP00000264183:K842N|.	K|R	-|-	3|2	2|0	ARID4B|ARID4B	233412331|233412331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.741000|1.741000	0.38238|0.38238	2.645000|2.645000	0.89757|0.89757	0.650000|0.650000	0.86243|0.86243	AAG|AGG		0.373	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		G	235345708	C	G	235345708	3	3	417	1	0	0	0	0	1	0	0	0	920	680	24	3	1432	3	ARID4B	1	235345708	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	27130108	235345708	13904913	9	22792											
EXO1	9156	genome.wustl.edu	37	1	242035520	242035520	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:242035520C>T	ENST00000366548.3	+	12	2047	c.1454C>T	c.(1453-1455)aCa>aTa	p.T485I	EXO1_ENST00000518483.1_Missense_Mutation_p.T485I|EXO1_ENST00000348581.5_Missense_Mutation_p.T485I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	485	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAATTTGCAACATTTTTACAA	0.393								Editing and processing nucleases																																								0			1											108	109	109					1																	242035520		2203	4300	6503	240102143	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1454C>T	1.37:g.242035520C>T	ENSP00000355506:p.Thr485Ile		240102143	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753512	0.31046	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.34667	1.35;1.35;1.35	5.94	5.94	0.96194	.	0.307523	0.34067	N	0.004287	T	0.31702	0.0805	L	0.39898	1.24	0.39886	D	0.973709	B;B;B	0.19583	0.022;0.037;0.022	B;B;B	0.21151	0.015;0.033;0.013	T	0.06162	-1.0842	10	0.33940	T	0.23	-4.8807	14.1735	0.65525	0.0:0.9279:0.0:0.0721	.	484;485;485	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	I	485	ENSP00000355506:T485I;ENSP00000311873:T485I;ENSP00000430251:T485I	ENSP00000311873:T485I	T	+	2	0	EXO1	240102143	0.211000	0.23529	0.997000	0.53966	0.284000	0.27059	1.646000	0.37249	2.822000	0.97130	0.557000	0.71058	ACA		0.393	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		T	242035520	C	T	242035520	3	4	417	1	0	0	0	0	1	0	0	0	5300	478	17	2	1488	2	EXO1	1	242035520	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	6689812	242035520	7215101	10	22793											
ADD2	119	genome.wustl.edu	37	2	70933508	70933508	+	Silent	SNP	C	C	T	rs369382641		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:70933508C>T	ENST00000264436.4	-	3	477	c.33G>A	c.(31-33)tcG>tcA	p.S11S	ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000430656.1_Silent_p.S27S|ADD2_ENST00000355733.3_Silent_p.S11S|ADD2_ENST00000407644.2_Silent_p.S11S|ADD2_ENST00000413157.2_Silent_p.S11S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	11					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.S11S(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGGCGGCGGCGAGGCAGCCT	0.642																																																2	Substitution - coding silent(2)	large_intestine(2)	2											43	47	46					2																	70933508		2202	4300	6502	70787016	SO:0001819	synonymous_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.33G>A	2.37:g.70933508C>T			70787016	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	CCDS1906.1																																																																																				0.642	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		T	70933508	C	T	70933508	2	4	417	1	0	0	0	0	0	0	0	1	305	755	27	1		1	ADD2	2	70933508	Silent	SNP	C	TCGA-59-2372-01A-01D-1526-09		70933508	172265865	11	22794											
TSGA10	80705	genome.wustl.edu	37	2	99614684	99614684	+	Splice_Site	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:99614684C>G	ENST00000393483.3	-	21	2917	c.2073G>C	c.(2071-2073)gaG>gaC	p.E691D	TSGA10_ENST00000355053.4_Splice_Site_p.E691D|TSGA10_ENST00000539964.1_Splice_Site_p.E691D|TSGA10_ENST00000410001.1_Splice_Site_p.E691D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	691					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGCAAAGATTCCTATAAGAGA	0.299																																																0			2											51	56	55					2																	99614684		2203	4297	6500	98981116	SO:0001630	splice_region_variant	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.2073-1G>C	2.37:g.99614684C>G			98981116	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579688	0.28180	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.54	4.54	0.55810	.	0.307941	0.25439	N	0.030673	T	0.47469	0.1447	N	0.22421	0.69	0.80722	D	1	P	0.49696	0.927	P	0.56563	0.801	T	0.39143	-0.9628	10	0.38643	T	0.18	.	12.6395	0.56702	0.0:1.0:0.0:0.0	.	691	Q9BZW7	TSG10_HUMAN	D	691	ENSP00000377123:E691D;ENSP00000386956:E691D;ENSP00000347161:E691D;ENSP00000444419:E691D	ENSP00000347161:E691D	E	-	3	2	TSGA10	98981116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.289000	0.51747	2.352000	0.79861	0.650000	0.86243	GAG		0.299	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	Missense_Mutation	G	99614684	C	G	99614684	5	3	417	1	0	0	0	0	0	0	1	0	16617	869	30	3	27	3	TSGA10	2	99614684	Splice_Site	SNP	C	TCGA-59-2372-01A-01D-1526-09	28681176	99614684	143584689	12	22795											
SLC35F5	80255	genome.wustl.edu	37	2	114489221	114489221	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:114489221C>T	ENST00000245680.2	-	10	1338	c.925G>A	c.(925-927)Gga>Aga	p.G309R	SLC35F5_ENST00000470204.2_5'Flank	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	309	EamA.				transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACAACGCCTCCAATGCTATGA	0.368																																																0			2											110	109	109					2																	114489221		2203	4300	6503	114205691	SO:0001583	missense	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.925G>A	2.37:g.114489221C>T	ENSP00000245680:p.Gly309Arg		114205691	Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.503184|4.503184	0.85176|0.85176	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000245680;ENST00000409106|ENST00000447673	T;T|.	0.52295|.	0.67;0.67|.	5.89|5.89	5.89|5.89	0.94794|0.94794	Drug/metabolite transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76090|.	0.3939|.	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.70016|.	0.967|.	T|.	0.74084|.	-0.3779|.	10|.	0.25751|.	T|.	0.34|.	-14.3304|-14.3304	18.4382|18.4382	0.90654|0.90654	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309|.	Q8WV83|.	S35F5_HUMAN|.	R|X	309;303|71	ENSP00000245680:G309R;ENSP00000386754:G303R|.	ENSP00000245680:G309R|.	G|W	-|-	1|2	0|0	SLC35F5|SLC35F5	114205691|114205691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.800000|5.800000	0.69108|0.69108	2.783000|2.783000	0.95769|0.95769	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.368	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		T	114489221	C	T	114489221	3	4	417	1	0	0	0	0	1	0	0	0	14595	603	21	2	670	2	SLC35F5	2	114489221	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	14874537	114489221	128710152	13	22796											
GPD2	2820	genome.wustl.edu	37	2	157352564	157352564	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:157352564G>A	ENST00000310454.6	+	3	483	c.111G>A	c.(109-111)ctG>ctA	p.L37L	GPD2_ENST00000540309.1_Silent_p.L37L|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000409674.1_Silent_p.L37L|GPD2_ENST00000438166.2_Silent_p.L37L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	37					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AGATGAACCTGGCCTATGTTA	0.363																																																0			2											69	66	67					2																	157352564		2203	4300	6503	157060810	SO:0001819	synonymous_variant	2820				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.111G>A	2.37:g.157352564G>A			157060810	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	CCDS2202.1																																																																																				0.363	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			A	157352564	G	A	157352564	2	1	417	1	0	0	0	0	0	0	0	1	6606	1335	47	2		2	GPD2	2	157352564	Silent	SNP	G	TCGA-59-2372-01A-01D-1526-09	42863343	157352564	85846809	14	22797											
MAP2	4133	genome.wustl.edu	37	2	210569215	210569215	+	Intron	SNP	A	A	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:210569215A>T	ENST00000360351.4	+	11	5090				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000199940.6_Silent_p.T186T|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGGGTAGCACAAAGTCCCCAA	0.418																																					Pancreas(27;423 979 28787 29963)											0			2											89	88	89					2																	210569215		2203	4299	6502	210277460	SO:0001627	intron_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4585-1089A>T	2.37:g.210569215A>T			210277460	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.418	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		T	210569215	A	T	210569215	1	4	417	0	1	0	0	0	0	0	0	0	9235	117	5	5		5	MAP2	2	210569215	Intron	SNP	A	TCGA-59-2372-01A-01D-1526-09	53216651	210569215	32630158	15	22798											
SERPINE2	5270	genome.wustl.edu	37	2	224866605	224866605	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:224866605G>C	ENST00000258405.4	-	2	255	c.13C>G	c.(13-15)Ctc>Gtc	p.L5V	SERPINE2_ENST00000409304.1_Missense_Mutation_p.L5V|SERPINE2_ENST00000409840.3_Missense_Mutation_p.L5V|SERPINE2_ENST00000447280.2_Missense_Mutation_p.L17V	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	5					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAGAGGGGGAGATGCCAGTTC	0.443																																																0			2											95	106	102					2																	224866605		2203	4300	6503	224574849	SO:0001583	missense	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.13C>G	2.37:g.224866605G>C	ENSP00000258405:p.Leu5Val		224574849	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	G	3.871	-0.027830	0.07589	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	D;T;D;D;D;D	0.85955	-2.0;-0.92;-2.0;-2.05;-1.68;-1.73	5.03	1.17	0.20885	Serpin domain (1);	0.640765	0.16622	N	0.206424	T	0.68201	0.2975	N	0.08118	0	0.09310	N	1	B;B	0.21381	0.055;0.016	B;B	0.21151	0.033;0.01	T	0.57568	-0.7789	10	0.46703	T	0.11	.	8.1362	0.31056	0.757:0.0:0.243:0.0	.	17;5	B4DIF2;P07093	.;GDN_HUMAN	V	5;5;5;17;5;5;5	ENSP00000386412:L5V;ENSP00000258405:L5V;ENSP00000386969:L5V;ENSP00000415786:L17V;ENSP00000408452:L5V;ENSP00000399655:L5V	ENSP00000258405:L5V	L	-	1	0	SERPINE2	224574849	0.989000	0.36119	0.051000	0.19133	0.037000	0.13140	1.106000	0.31098	0.021000	0.15133	0.561000	0.74099	CTC		0.443	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		C	224866605	G	C	224866605	3	2	417	1	0	0	0	0	1	0	0	0	14115	942	33	3	1215	3	SERPINE2	2	224866605	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	14297390	224866605	18332768	16	22799											
SHROOM3	57619	genome.wustl.edu	37	4	77700128	77700128	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr4:77700128C>T	ENST00000296043.6	+	11	6742	c.5789C>T	c.(5788-5790)aCg>aTg	p.T1930M	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1930	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGAAGTCCACGCTCCTCATT	0.542																																																0			4											103	100	101					4																	77700128		2203	4300	6503	77919152	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5789C>T	4.37:g.77700128C>T	ENSP00000296043:p.Thr1930Met		77919152	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820523	0.71028	.	.	ENSG00000138771	ENST00000296043	T	0.30714	1.52	5.31	4.47	0.54385	Apx/shroom, ASD2 (2);	0.652135	0.15514	N	0.258405	T	0.27489	0.0675	L	0.36672	1.1	0.37705	D	0.924345	D	0.54397	0.966	B	0.41412	0.356	T	0.29366	-1.0014	10	0.87932	D	0	-4.0445	14.0021	0.64439	0.0:0.9277:0.0:0.0723	.	1930	Q8TF72	SHRM3_HUMAN	M	1930	ENSP00000296043:T1930M	ENSP00000296043:T1930M	T	+	2	0	SHROOM3	77919152	0.999000	0.42202	0.349000	0.25694	0.685000	0.39939	5.563000	0.67352	1.482000	0.48325	0.591000	0.81541	ACG		0.542	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		T	77700128	C	T	77700128	3	4	417	1	0	0	0	0	1	0	0	0	14298	536	19	1	5831	1	SHROOM3	4	77700128	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09		77700128	113454148	17	22800											
CTSO	1519	genome.wustl.edu	37	4	156864417	156864417	+	Splice_Site	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr4:156864417C>T	ENST00000433477.3	-	2	205		c.e2-1			NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O						bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAAGACTTTCCTAGAAGAAAA	0.303																																					Pancreas(148;2303 2598 8989 35298)											0			4											55	61	59					4																	156864417		2203	4294	6497	157083867	SO:0001630	splice_region_variant	1519			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"Cathepsins"	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.136-1G>A	4.37:g.156864417C>T			157083867	Q6FHS6	Splice_Site	SNP	ENST00000433477.3	37	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328534	0.60743	.	.	ENSG00000256043	ENST00000433477	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7977	0.96492	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTSO	157083867	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	6.132000	0.71676	2.698000	0.92095	0.655000	0.94253	.		0.303	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334	Intron	T	156864417	C	T	156864417	5	4	417	1	0	0	0	0	0	0	1	0	4040	695	24	2	858	2	CTSO	4	156864417	Splice_Site	SNP	C	TCGA-59-2372-01A-01D-1526-09	79164289	156864417	34289859	18	22801											
AP3B1	8546	genome.wustl.edu	37	5	77477334	77477334	+	Silent	SNP	A	A	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr5:77477334A>C	ENST00000255194.6	-	8	1114	c.939T>G	c.(937-939)gcT>gcG	p.A313A	AP3B1_ENST00000519295.1_Silent_p.A264A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	313					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AACATACCGCAGCATTCCTGC	0.333									Hermansky-Pudlak syndrome																																							0			5											87	87	87					5																	77477334		2203	4300	6503	77513090	SO:0001819	synonymous_variant	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.939T>G	5.37:g.77477334A>C			77513090	E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	CCDS4041.1																																																																																				0.333	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			C	77477334	A	C	77477334	2	2	417	1	0	0	0	0	0	0	0	1	744	175	7	5		5	AP3B1	5	77477334	Silent	SNP	A	TCGA-59-2372-01A-01D-1526-09		77477334	103437926	19	22802											
HAPLN1	1404	genome.wustl.edu	37	5	82937415	82937415	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr5:82937415C>A	ENST00000274341.4	-	5	1815	c.965G>T	c.(964-966)aGa>aTa	p.R322I		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	322	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GCAGCGCCTTCTTGGCCTAGA	0.542																																																0			5											108	114	112					5																	82937415		2203	4300	6503	82973171	SO:0001583	missense	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.965G>T	5.37:g.82937415C>A	ENSP00000274341:p.Arg322Ile		82973171	B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435702	0.43224	.	.	ENSG00000145681	ENST00000274341	T	0.10477	2.87	5.22	4.35	0.52113	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60429	-0.7265	10	0.87932	D	0	.	13.9622	0.64188	0.0:0.927:0.0:0.073	.	322	P10915	HPLN1_HUMAN	I	322	ENSP00000274341:R322I	ENSP00000274341:R322I	R	-	2	0	HAPLN1	82973171	0.857000	0.29778	0.031000	0.17742	0.055000	0.15305	7.741000	0.84997	1.326000	0.45319	0.655000	0.94253	AGA		0.542	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		A	82937415	C	A	82937415	3	1	417	1	0	0	0	0	1	0	0	0	6954	913	32	3	103	3	HAPLN1	5	82937415	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	5460081	82937415	97977845	20	22803											
SLC36A3	285641	genome.wustl.edu	37	5	150678161	150678161	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr5:150678161C>T	ENST00000335230.3	-	2	623	c.212G>A	c.(211-213)gGc>gAc	p.G71D	SLC36A3_ENST00000377713.3_Missense_Mutation_p.G71D	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	71						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCAACAAGCCGGCATTCTT	0.507																																																0			5											87	75	79					5																	150678161		2203	4300	6503	150658354	SO:0001583	missense	285641			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.212G>A	5.37:g.150678161C>T	ENSP00000334750:p.Gly71Asp		150658354	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630473	0.46944	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.64260	-0.09;-0.09	4.62	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.84065	0.5390	H	0.96943	3.91	0.36980	D	0.894252	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88887	0.3343	10	0.87932	D	0	.	10.114	0.42579	0.1985:0.8015:0.0:0.0	.	71;71	Q495N2-3;Q495N2	.;S36A3_HUMAN	D	71	ENSP00000334750:G71D;ENSP00000366942:G71D	ENSP00000334750:G71D	G	-	2	0	SLC36A3	150658354	1.000000	0.71417	0.909000	0.35828	0.468000	0.32798	5.171000	0.64996	1.154000	0.42482	0.655000	0.94253	GGC		0.507	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		T	150678161	C	T	150678161	3	4	417	1	0	0	0	0	1	0	0	0	14598	739	26	2	1363	2	SLC36A3	5	150678161	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	67740746	150678161	30237099	21	22804											
BTN3A3	10384	genome.wustl.edu	37	6	26451915	26451915	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:26451915T>C	ENST00000244519.2	+	11	1274	c.1031T>C	c.(1030-1032)cTg>cCg	p.L344P	BTN3A3_ENST00000339789.4_Missense_Mutation_p.L302P|BTN3A3_ENST00000361232.3_Missense_Mutation_p.L295P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	344	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GATGTGATTCTGGATCCAGAC	0.557																																																0			6											60	64	63					6																	26451915		2203	4300	6503	26559894	SO:0001583	missense	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1031T>C	6.37:g.26451915T>C	ENSP00000244519:p.Leu344Pro		26559894	B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269962	0.59540	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000490254	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	3.06	3.06	0.35304	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.60366	0.2263	M	0.92026	3.265	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.67821	-0.5571	9	0.66056	D	0.02	.	9.7972	0.40742	0.0:0.0:0.0:1.0	.	295;344	E9PCP5;O00478	.;BT3A3_HUMAN	P	344;302;295;134	ENSP00000244519:L344P;ENSP00000344968:L302P;ENSP00000355238:L295P;ENSP00000419736:L134P	ENSP00000244519:L344P	L	+	2	0	BTN3A3	26559894	1.000000	0.71417	0.614000	0.29051	0.699000	0.40488	5.980000	0.70516	1.335000	0.45486	0.374000	0.22700	CTG		0.557	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		C	26451915	T	C	26451915	3	2	417	1	0	0	0	0	1	0	0	0	1564	1580	55	4	1065	4	BTN3A3	6	26451915	Missense_Mutation	SNP	T	TCGA-59-2372-01A-01D-1526-09		26451915	144663152	22	22805											
MICB	4277	genome.wustl.edu	37	6	31473486	31473486	+	Missense_Mutation	SNP	C	C	T	rs200411452	byFrequency	TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:31473486C>T	ENST00000252229.6	+	2	242	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	MICB_ENST00000538442.1_Missense_Mutation_p.P23S|MICB_ENST00000399150.3_Missense_Mutation_p.P55S	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GGATGGTCAGCCCTTCCTGCG	0.577													c|||	28	0.00559105	0.0166	0.0029	5008	,	,		19886	0		0.004	False		,,,				2504	0															0			6						C	SER/PRO	31,2551		0,31,1260	87	91	90		163	-2.3	0	6		90	19,5107		0,19,2544	no	missense	MICB	NM_005931.3	74	0,50,3804	TT,TC,CC		0.3707,1.2006,0.6487	probably-damaging	55/384	31473486	50,7658	1291	2563	3854	31581465	SO:0001583	missense	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.163C>T	6.37:g.31473486C>T	ENSP00000252229:p.Pro55Ser		31581465		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	8.006	0.756365	0.15846	0.012006	0.003707	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00675	5.88;5.88;5.88	2.68	-2.31	0.06765	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	2.218800	0.02503	U	0.090691	T	0.00967	0.0032	M	0.75615	2.305	0.09310	N	1	P;D;D	0.57899	0.956;0.965;0.981	P;P;P	0.61533	0.711;0.89;0.81	T	0.33420	-0.9869	10	0.49607	T	0.09	.	1.9003	0.03266	0.1824:0.2617:0.4172:0.1387	.	23;55;55	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	S	23;55;55	ENSP00000442345:P23S;ENSP00000382103:P55S;ENSP00000252229:P55S	ENSP00000252229:P55S	P	+	1	0	MICB	31581465	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.329000	0.07935	-0.406000	0.07588	0.305000	0.20034	CCC		0.577	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		T	31473486	C	T	31473486	3	4	417	1	0	0	0	0	1	0	0	0	9575	739	26	2	169	2	MICB	6	31473486	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	5021571	31473486	139641581	23	22806											
OPN5	221391	genome.wustl.edu	37	6	47754322	47754322	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:47754322G>A	ENST00000371211.2	+	2	230	c.202G>A	c.(202-204)Gct>Act	p.A68T	OPN5_ENST00000489301.2_Missense_Mutation_p.A68T|OPN5_ENST00000393699.2_Missense_Mutation_p.A68T	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	68					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GCTGAGACCCGCTGAAATAAT	0.388																																					Melanoma(28;740 973 10870 42660 45347)											0			6											132	123	126					6																	47754322		2203	4300	6503	47862281	SO:0001583	missense	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.202G>A	6.37:g.47754322G>A	ENSP00000360255:p.Ala68Thr		47862281	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309648	0.60414	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.33654	1.4;1.4;1.4	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.047479	0.85682	D	0.000000	T	0.19765	0.0475	L	0.31120	0.905	0.49915	D	0.999839	P	0.49961	0.93	B	0.43194	0.411	T	0.01914	-1.1248	10	0.15066	T	0.55	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	68	Q6U736	OPN5_HUMAN	T	68	ENSP00000426991:A68T;ENSP00000360255:A68T;ENSP00000377302:A68T	ENSP00000360255:A68T	A	+	1	0	OPN5	47862281	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.310000	0.72830	2.836000	0.97738	0.655000	0.94253	GCT		0.388	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		A	47754322	G	A	47754322	3	1	417	1	0	0	0	0	1	0	0	0	10883	1087	38	1	208	1	OPN5	6	47754322	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	16280836	47754322	123360745	24	22807											
UTRN	7402	genome.wustl.edu	37	6	144783805	144783805	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:144783805C>G	ENST00000367545.3	+	22	2869	c.2869C>G	c.(2869-2871)Ctt>Gtt	p.L957V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	957					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGATGAAATCCTTGAGAATCA	0.308																																																0			6											35	37	36					6																	144783805		2202	4297	6499	144825498	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2869C>G	6.37:g.144783805C>G	ENSP00000356515:p.Leu957Val		144825498	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398152	0.42512	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.63580	-0.05	5.36	5.36	0.76844	.	0.000000	0.45361	D	0.000364	T	0.36110	0.0955	L	0.32530	0.975	0.80722	D	1	B	0.32350	0.366	B	0.23852	0.049	T	0.45234	-0.9275	10	0.54805	T	0.06	.	13.9898	0.64359	0.1514:0.8486:0.0:0.0	.	957	P46939	UTRO_HUMAN	V	957	ENSP00000356515:L957V	ENSP00000356499:L957V	L	+	1	0	UTRN	144825498	0.988000	0.35896	1.000000	0.80357	0.948000	0.59901	1.277000	0.33167	2.486000	0.83907	0.655000	0.94253	CTT		0.308	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	144783805	C	G	144783805	3	3	417	1	0	0	0	0	1	0	0	0	17103	681	24	3	2955	3	UTRN	6	144783805	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	97029483	144783805	26331262	25	22808											
IPCEF1	26034	genome.wustl.edu	37	6	154489077	154489077	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:154489077C>A	ENST00000265198.4	-	11	1234	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	IPCEF1_ENST00000422970.2_Missense_Mutation_p.R361L|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Missense_Mutation_p.R361L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.R332L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	360					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ATTCAATGTTCGGATTTTGTG	0.413																																																0			6											144	134	138					6																	154489077		2203	4300	6503	154530769	SO:0001583	missense	26034			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1079G>T	6.37:g.154489077C>A	ENSP00000265198:p.Arg360Leu		154530769	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772229	0.90108	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.08	5.17	5.17	0.71159	.	0.060126	0.64402	D	0.000003	T	0.81370	0.4808	M	0.85462	2.755	0.38292	D	0.942744	D;D;D	0.76494	0.998;0.999;0.997	D;D;P	0.70716	0.934;0.97;0.884	D	0.85099	0.0956	10	0.87932	D	0	-25.2055	18.6676	0.91497	0.0:1.0:0.0:0.0	.	360;361;332	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	L	360;361;361;332	ENSP00000265198:R360L;ENSP00000394751:R361L;ENSP00000356189:R361L;ENSP00000430287:R332L	ENSP00000265198:R360L	R	-	2	0	IPCEF1	154530769	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.487000	0.81328	2.413000	0.81919	0.591000	0.81541	CGA		0.413	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		A	154489077	C	A	154489077	3	1	417	1	0	0	0	0	1	0	0	0	7791	884	31	3	242	3	IPCEF1	6	154489077	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	9705272	154489077	16625990	26	22809											
SLC29A4	222962	genome.wustl.edu	37	7	5336737	5336737	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:5336737C>T	ENST00000396872.3	+	7	951	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R264W|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R250W			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	264					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CTATACCACACGGCCGCGTGA	0.652																																																0			7											38	38	38					7																	5336737		2200	4298	6498	5303263	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.790C>T	7.37:g.5336737C>T	ENSP00000380081:p.Arg264Trp		5303263	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.029882	0.35797	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	D;D;D	0.82433	-1.61;-1.61;-1.61	3.75	0.615	0.17608	Major facilitator superfamily domain, general substrate transporter (1);	1.493740	0.05121	U	0.490737	D	0.86703	0.5996	L	0.54323	1.7	0.31881	N	0.618423	D;D	0.76494	0.998;0.999	P;D	0.63033	0.804;0.91	T	0.74515	-0.3640	10	0.59425	D	0.04	-12.5143	5.6145	0.17423	0.4839:0.4142:0.0:0.1019	.	250;264	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	W	264;264;250	ENSP00000380081:R264W;ENSP00000297195:R264W;ENSP00000385845:R250W	ENSP00000297195:R264W	R	+	1	2	SLC29A4	5303263	0.676000	0.27567	0.017000	0.16124	0.061000	0.15899	0.192000	0.17096	-0.233000	0.09797	0.555000	0.69702	CGG		0.652	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		T	5336737	C	T	5336737	3	4	417	1	0	0	0	0	1	0	0	0	14540	527	19	1	812	1	SLC29A4	7	5336737	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09		5336737	153801926	27	22810											
ZNF107	51427	genome.wustl.edu	37	7	64167243	64167243	+	Silent	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:64167243C>T	ENST00000395391.1	+	4	1936	c.561C>T	c.(559-561)ccC>ccT	p.P187P	ZNF107_ENST00000344930.3_Silent_p.P187P|ZNF107_ENST00000423627.1_Silent_p.P187P			Q9UII5	ZN107_HUMAN	zinc finger protein 107	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAGAGAAACCCAACAAATGTG	0.363																																																0			7											34	37	36					7																	64167243		2200	4297	6497	63804678	SO:0001819	synonymous_variant	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.561C>T	7.37:g.64167243C>T			63804678		Silent	SNP	ENST00000395391.1	37	CCDS5527.1																																																																																				0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		T	64167243	C	T	64167243	2	4	417	1	0	0	0	0	0	0	0	1	17715	581	21	2		2	ZNF107	7	64167243	Silent	SNP	C	TCGA-59-2372-01A-01D-1526-09	58830506	64167243	94971420	28	22811											
ABHD11	83451	genome.wustl.edu	37	7	73152009	73152009	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:73152009G>C	ENST00000222800.3	-	3	414	c.345C>G	c.(343-345)agC>agG	p.S115R	ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000458339.1_Missense_Mutation_p.S115R|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000437775.2_Missense_Mutation_p.S108R|ABHD11_ENST00000395147.4_Missense_Mutation_p.S115R	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	115						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGATCTCGTAGCTCATGTCTG	0.627																																																0			7											80	64	69					7																	73152009		2203	4300	6503	72789945	SO:0001583	missense	83451			AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"Abhydrolase domain containing"	16407	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 21"	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.345C>G	7.37:g.73152009G>C	ENSP00000222800:p.Ser115Arg		72789945	H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560011	0.86335	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000322862;ENST00000458339;ENST00000395147	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.2	5.2	0.72013	.	0.046589	0.85682	D	0.000000	T	0.78349	0.4269	L	0.58302	1.8	0.58432	D	0.999996	D;D;P	0.76494	0.999;0.987;0.607	D;D;P	0.77557	0.99;0.921;0.61	T	0.80148	-0.1503	10	0.72032	D	0.01	-22.2254	14.2279	0.65873	0.0:0.0:1.0:0.0	.	115;108;115	C9J7Q4;Q8NFV4-4;Q8NFV4	.;.;ABHDB_HUMAN	R	108;115;108;115;115	ENSP00000416970:S108R;ENSP00000222800:S115R;ENSP00000397666:S115R;ENSP00000378579:S115R	ENSP00000222800:S115R	S	-	3	2	ABHD11	72789945	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.210000	0.51129	2.424000	0.82194	0.498000	0.49722	AGC		0.627	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			C	73152009	G	C	73152009	3	2	417	1	0	0	0	0	1	0	0	0	75	962	34	3	618	3	ABHD11	7	73152009	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	8984766	73152009	85986654	29	22812											
MUC17	140453	genome.wustl.edu	37	7	100680734	100680734	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:100680734A>G	ENST00000306151.4	+	3	6101	c.6037A>G	c.(6037-6039)Agc>Ggc	p.S2013G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2013	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTTGACACCAGCACTCCTGC	0.502																																																0			7											217	203	208					7																	100680734		2203	4300	6503	100467454	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6037A>G	7.37:g.100680734A>G	ENSP00000302716:p.Ser2013Gly		100467454	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	4.383	0.070624	0.08436	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	1.0	1.0	0.19881	.	.	.	.	.	T	0.02156	0.0067	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.47560	-0.9108	9	0.20519	T	0.43	.	6.2388	0.20778	1.0:0.0:0.0:0.0	.	2013	Q685J3	MUC17_HUMAN	G	2013	ENSP00000302716:S2013G	ENSP00000302716:S2013G	S	+	1	0	MUC17	100467454	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.137000	0.10389	0.714000	0.32081	0.113000	0.15668	AGC		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100680734	A	G	100680734	3	3	417	1	0	0	0	0	1	0	0	0	9974	188	7	4	6047	4	MUC17	7	100680734	Missense_Mutation	SNP	A	TCGA-59-2372-01A-01D-1526-09	27528725	100680734	58457929	30	22813											
SPAM1	6677	genome.wustl.edu	37	7	123593871	123593871	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:123593871G>A	ENST00000439500.1	+	4	860	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	SPAM1_ENST00000460182.1_Missense_Mutation_p.A83T|SPAM1_ENST00000340011.5_Missense_Mutation_p.A83T|SPAM1_ENST00000402183.2_Missense_Mutation_p.A83T|SPAM1_ENST00000223028.7_Missense_Mutation_p.A83T	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	83					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGAATAAACGCCACCGGGCA	0.443																																																0			7											48	47	47					7																	123593871		2203	4299	6502	123381107	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.247G>A	7.37:g.123593871G>A	ENSP00000402123:p.Ala83Thr		123381107	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110218	0.37242	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	6.03	-10.3	0.00346	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	2.968830	0.00589	N	0.000344	T	0.19604	0.0471	L	0.57536	1.79	0.09310	N	1	B;P	0.35242	0.275;0.492	B;B	0.33750	0.11;0.169	T	0.08700	-1.0709	9	.	.	.	1.8871	4.5959	0.12329	0.5201:0.0726:0.0973:0.3099	.	83;83	Q8TC30;P38567	.;HYALP_HUMAN	T	83	ENSP00000386028:A83T;ENSP00000417934:A83T;ENSP00000345849:A83T;ENSP00000402123:A83T;ENSP00000223028:A83T	.	A	+	1	0	SPAM1	123381107	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.373000	0.07494	-2.605000	0.00448	-0.700000	0.03674	GCC		0.443	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123593871	G	A	123593871	3	1	417	1	0	0	0	0	1	0	0	0	14989	1087	38	1	249	1	SPAM1	7	123593871	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	22913137	123593871	35544792	31	22814											
SMARCD3	6604	genome.wustl.edu	37	7	150937197	150937197	+	Splice_Site	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:150937197C>A	ENST00000262188.8	-	10	1584		c.e10+1		MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Splice_Site|SMARCD3_ENST00000392811.2_Splice_Site|SMARCD3_ENST00000477169.1_5'Flank	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3						cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGGCCCCACCTTACTGTCC	0.547																																																0			7											111	96	101					7																	150937197		2203	4300	6503	150568130	SO:0001630	splice_region_variant	6604			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1173+1G>T	7.37:g.150937197C>A			150568130	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Splice_Site	SNP	ENST00000262188.8	37	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870837	0.72065	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.12	0.81346	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCD3	150568130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.075000	0.71261	2.368000	0.80403	0.655000	0.94253	.		0.547	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801	Intron	A	150937197	C	A	150937197	5	1	417	1	0	0	0	0	0	0	1	0	14782	521	18	3	293	3	SMARCD3	7	150937197	Splice_Site	SNP	C	TCGA-59-2372-01A-01D-1526-09	27343326	150937197	8201466	32	22815											
MYOM2	9172	genome.wustl.edu	37	8	2050535	2050535	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr8:2050535G>C	ENST00000262113.4	+	21	2839	c.2698G>C	c.(2698-2700)Gac>Cac	p.D900H	MYOM2_ENST00000523438.1_Missense_Mutation_p.D325H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	900	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGCCCTCAGACACGTCGGA	0.502																																																0			8											78	67	71					8																	2050535		2203	4300	6503	2037942	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2698G>C	8.37:g.2050535G>C	ENSP00000262113:p.Asp900His		2037942	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	8.896	0.955098	0.18507	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.55930	0.49;0.49	4.93	4.04	0.47022	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.437344	0.25774	N	0.028398	T	0.63674	0.2531	M	0.80746	2.51	0.09310	N	1	P	0.40302	0.712	P	0.46076	0.503	T	0.61466	-0.7057	10	0.59425	D	0.04	.	15.5763	0.76392	0.0:0.1385:0.8615:0.0	.	900	P54296	MYOM2_HUMAN	H	900;325	ENSP00000262113:D900H;ENSP00000428396:D325H	ENSP00000262113:D900H	D	+	1	0	MYOM2	2037942	1.000000	0.71417	0.005000	0.12908	0.002000	0.02628	3.331000	0.52075	1.176000	0.42840	0.609000	0.83330	GAC		0.502	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		C	2050535	G	C	2050535	3	2	417	1	0	0	0	0	1	0	0	0	10092	942	33	3	2776	3	MYOM2	8	2050535	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09		2050535	144313487	33	22816											
SLC7A2	6542	genome.wustl.edu	37	8	17400910	17400910	+	Missense_Mutation	SNP	C	C	T	rs546678343		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr8:17400910C>T	ENST00000494857.1	+	3	280	c.62C>T	c.(61-63)aCc>aTc	p.T21I	SLC7A2_ENST00000004531.10_Missense_Mutation_p.T61I|SLC7A2_ENST00000470360.1_Missense_Mutation_p.T61I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.T21I|SLC7A2_ENST00000398090.3_Missense_Mutation_p.T61I	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	21					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAAATCGTGACCCTGGACAGT	0.557																																																0			8											89	83	85					8																	17400910		2203	4300	6503	17445289	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.62C>T	8.37:g.17400910C>T	ENSP00000419140:p.Thr21Ile		17445289	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026842	0.35797	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88431	-2.21;-2.21;-2.38;-2.24;-2.38	5.5	4.62	0.57501	.	0.259629	0.45361	D	0.000375	D	0.83741	0.5320	L	0.36672	1.1	0.26472	N	0.975266	B;B;B	0.29162	0.235;0.214;0.157	B;B;B	0.35114	0.196;0.138;0.129	T	0.76836	-0.2812	10	0.59425	D	0.04	.	7.4013	0.26965	0.1258:0.6842:0.1215:0.0685	.	61;61;21	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	I	21;21;61;61;61	ENSP00000419140:T21I;ENSP00000430464:T21I;ENSP00000419873:T61I;ENSP00000004531:T61I;ENSP00000381164:T61I	ENSP00000004531:T61I	T	+	2	0	SLC7A2	17445289	0.004000	0.15560	0.675000	0.29917	0.861000	0.49209	1.295000	0.33377	1.466000	0.48025	0.655000	0.94253	ACC		0.557	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		T	17400910	C	T	17400910	3	4	417	1	0	0	0	0	1	0	0	0	14700	507	18	2	188	2	SLC7A2	8	17400910	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	15350375	17400910	128963112	34	22817											
ANK1	286	genome.wustl.edu	37	8	41545726	41545726	+	Silent	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr8:41545726C>T	ENST00000347528.4	-	35	4289	c.4206G>A	c.(4204-4206)caG>caA	p.Q1402Q	ANK1_ENST00000352337.4_Silent_p.Q1402Q|ANK1_ENST00000379758.2_Silent_p.Q1402Q|ANK1_ENST00000265709.8_Silent_p.Q1443Q|ANK1_ENST00000396942.1_Silent_p.Q1402Q|ANK1_ENST00000289734.7_Silent_p.Q1402Q|ANK1_ENST00000396945.1_Silent_p.Q1402Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1402	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCATCTCTGCCTGCTCTGTCC	0.542																																																0			8											258	217	231					8																	41545726		2203	4300	6503	41664883	SO:0001819	synonymous_variant	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4206G>A	8.37:g.41545726C>T			41664883	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	0.193	-1.051908	0.01981	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.64	-6.44	0.01920	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.37692	D	0.923887	.	.	.	.	.	.	T	0.45279	-0.9272	4	.	.	.	.	4.7171	0.12899	0.1051:0.4364:0.3035:0.155	.	.	.	.	S	724	.	.	G	-	1	0	ANK1	41664883	0.136000	0.22515	0.000000	0.03702	0.098000	0.18820	-0.288000	0.08377	-0.889000	0.03950	0.563000	0.77884	GGC		0.542	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41545726	C	T	41545726	2	4	417	1	0	0	0	0	0	0	0	1	620	680	24	2		2	ANK1	8	41545726	Silent	SNP	C	TCGA-59-2372-01A-01D-1526-09	24144816	41545726	104818296	35	22818											
ACTL7A	10881	genome.wustl.edu	37	9	111624682	111624682	+	Missense_Mutation	SNP	C	C	T	rs559552010		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr9:111624682C>T	ENST00000333999.3	+	1	80	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	27						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGACACAGGCCCTCCAGACT	0.617																																					Esophageal Squamous(177;1480 3591 17554)											0			9											36	43	41					9																	111624682		2203	4300	6503	110664503	SO:0001583	missense	10881			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.80C>T	9.37:g.111624682C>T	ENSP00000334300:p.Ala27Val		110664503	B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	C	7.267	0.606380	0.14002	.	.	ENSG00000187003	ENST00000333999	D	0.94687	-3.49	5.08	-3.14	0.05250	.	1.852020	0.03143	N	0.166886	D	0.86748	0.6007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77568	-0.2539	10	0.72032	D	0.01	.	7.7755	0.29035	0.0:0.6555:0.1548:0.1897	.	27	Q9Y615	ACL7A_HUMAN	V	27	ENSP00000334300:A27V	ENSP00000334300:A27V	A	+	2	0	ACTL7A	110664503	0.000000	0.05858	0.086000	0.20670	0.931000	0.56810	-1.829000	0.01701	-0.314000	0.08716	0.655000	0.94253	GCC		0.617	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		T	111624682	C	T	111624682	3	4	417	1	0	0	0	0	1	0	0	0	200	739	26	2	82	2	ACTL7A	9	111624682	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09		111624682	29588749	36	22819											
DENND1A	57706	genome.wustl.edu	37	9	126144764	126144764	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr9:126144764C>A	ENST00000373624.2	-	22	2178	c.1977G>T	c.(1975-1977)aaG>aaT	p.K659N	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.K670N|DENND1A_ENST00000542603.1_Missense_Mutation_p.K444N	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	659	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGCTGAGGGCTTCTCAGGGG	0.647																																																0			9											48	52	51					9																	126144764		2203	4300	6503	125184585	SO:0001583	missense	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1977G>T	9.37:g.126144764C>A	ENSP00000362727:p.Lys659Asn		125184585	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093615	0.36952	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.25250	3.29;1.81;3.13	5.06	4.15	0.48705	.	0.374120	0.28371	N	0.015584	T	0.33876	0.0878	L	0.51422	1.61	0.80722	D	1	D;D;P;P	0.59357	0.968;0.985;0.704;0.651	P;P;B;B	0.54889	0.695;0.763;0.42;0.198	T	0.03017	-1.1082	10	0.49607	T	0.09	-22.8689	9.5825	0.39497	0.0:0.781:0.0:0.219	.	670;660;659;522	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	N	659;444;670	ENSP00000362727:K659N;ENSP00000437457:K444N;ENSP00000377766:K670N	ENSP00000362727:K659N	K	-	3	2	DENND1A	125184585	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	0.760000	0.26475	2.352000	0.79861	0.563000	0.77884	AAG		0.647	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		A	126144764	C	A	126144764	3	1	417	1	0	0	0	0	1	0	0	0	4426	796	28	3	1056	3	DENND1A	9	126144764	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	14520082	126144764	15068667	37	22820											
SLC2A6	11182	genome.wustl.edu	37	9	136341446	136341446	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr9:136341446C>G	ENST00000371899.4	-	4	552	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.E159Q	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	159					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGAGCAATCTCAGACACGTAC	0.622																																																0			9											58	51	54					9																	136341446		2201	4300	6501	135331267	SO:0001583	missense	11182			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.475G>C	9.37:g.136341446C>G	ENSP00000360966:p.Glu159Gln		135331267	A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618104	0.87359	.	.	ENSG00000160326	ENST00000371897;ENST00000371899;ENST00000432868;ENST00000414172	D;D;D	0.86097	-2.07;-2.07;-2.07	4.98	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	H	0.98027	4.13	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.999	D	0.97456	1.0031	10	0.87932	D	0	.	17.2339	0.86992	0.0:1.0:0.0:0.0	.	159;159;159;159	B4DH85;F2Z2F6;Q9UGQ3-2;Q9UGQ3	.;.;.;GTR6_HUMAN	Q	159;159;159;86	ENSP00000360964:E159Q;ENSP00000360966:E159Q;ENSP00000405124:E159Q	ENSP00000360964:E159Q	E	-	1	0	SLC2A6	135331267	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.138000	0.77305	2.286000	0.76751	0.655000	0.94253	GAG		0.622	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		G	136341446	C	G	136341446	3	3	417	1	0	0	0	0	1	0	0	0	14552	835	29	3	1076	3	SLC2A6	9	136341446	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	10196682	136341446	4871985	38	22821											
SARDH	1757	genome.wustl.edu	37	9	136598970	136598970	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr9:136598970G>A	ENST00000371872.4	-	2	583	c.326C>T	c.(325-327)aCg>aTg	p.T109M	SARDH_ENST00000422262.2_Intron|SARDH_ENST00000371867.1_Missense_Mutation_p.T20M|SARDH_ENST00000439388.1_Missense_Mutation_p.T109M|SARDH_ENST00000298628.5_Missense_Mutation_p.T109M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	109					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTACCTGCCGTGTGCCAGGT	0.652																																																0			9											9	7	7					9																	136598970		2147	4194	6341	135588791	SO:0001583	missense	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.326C>T	9.37:g.136598970G>A	ENSP00000360938:p.Thr109Met		135588791	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623923	0.46840	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.77	3.87	0.44632	FAD dependent oxidoreductase (1);	0.061039	0.64402	D	0.000003	D	0.89079	0.6613	M	0.81179	2.53	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.89939	0.4071	10	0.87932	D	0	-16.7159	12.8142	0.57657	0.0796:0.0:0.9204:0.0	.	109	Q9UL12	SARDH_HUMAN	M	109;109;109;109;109;20;87;109	ENSP00000360938:T109M;ENSP00000403084:T109M;ENSP00000360933:T20M;ENSP00000298628:T109M	ENSP00000298628:T109M	T	-	2	0	SARDH	135588791	1.000000	0.71417	0.903000	0.35520	0.027000	0.11550	9.431000	0.97494	1.015000	0.39444	-0.218000	0.12543	ACG		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			A	136598970	G	A	136598970	3	1	417	1	0	0	0	0	1	0	0	0	13844	1145	40	1	2510	1	SARDH	9	136598970	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	257524	136598970	4614461	39	22822											
GDF2	2658	genome.wustl.edu	37	10	48413728	48413728	+	Silent	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr10:48413728C>T	ENST00000249598.1	-	2	1299	c.1140G>A	c.(1138-1140)gtG>gtA	p.V380V		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	380					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						ACTTGAGATGCACCAGGGTCT	0.592																																																0			10											128	102	110					10																	48413728		2203	4300	6503	48033734	SO:0001819	synonymous_variant	2658			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1140G>A	10.37:g.48413728C>T			48033734	Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	CCDS7219.1																																																																																				0.592	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		T	48413728	C	T	48413728	2	4	417	1	0	0	0	0	0	0	0	1	6314	697	25	2		2	GDF2	10	48413728	Silent	SNP	C	TCGA-59-2372-01A-01D-1526-09		48413728	87121019	40	22823											
PRKG1	5592	genome.wustl.edu	37	10	54048544	54048544	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr10:54048544G>T	ENST00000401604.2	+	15	1917	c.1723G>T	c.(1723-1725)Gac>Tac	p.D575Y	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.D563Y|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.D293Y|PRKG1_ENST00000373980.4_Missense_Mutation_p.D590Y			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.D590N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAGGGGGATTGACATGATAGA	0.338																																																1	Substitution - Missense(1)	large_intestine(1)	10											96	98	97					10																	54048544		2203	4300	6503	53718550	SO:0001583	missense	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1723G>T	10.37:g.54048544G>T	ENSP00000384200:p.Asp575Tyr		53718550	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569842	0.86542	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.64803	-0.12;-0.12;-0.12	5.26	5.26	0.73747	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	0.68742	0.3034	N	0.20530	0.585	0.80722	D	1	D;D;D	0.89917	0.982;1.0;1.0	D;D;D	0.81914	0.93;0.994;0.995	T	0.74166	-0.3753	10	0.87932	D	0	-7.2551	18.4561	0.90721	0.0:0.0:1.0:0.0	.	293;590;575	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	Y	575;563;590;293;187	ENSP00000384200:D575Y;ENSP00000363097:D563Y;ENSP00000363092:D590Y	ENSP00000327642:D293Y	D	+	1	0	PRKG1	53718550	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.444000	0.82710	0.655000	0.94253	GAC		0.338	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	54048544	G	T	54048544	3	4	417	1	0	0	0	0	1	0	0	0	12525	1290	45	3	2096	3	PRKG1	10	54048544	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	5634816	54048544	81486203	41	22824											
PCDH15	65217	genome.wustl.edu	37	10	55944984	55944984	+	Silent	SNP	T	T	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr10:55944984T>A	ENST00000320301.6	-	12	1744	c.1350A>T	c.(1348-1350)tcA>tcT	p.S450S	PCDH15_ENST00000373965.2_Silent_p.S457S|PCDH15_ENST00000409834.1_Silent_p.S61S|PCDH15_ENST00000361849.3_Silent_p.S450S|PCDH15_ENST00000437009.1_Silent_p.S450S|PCDH15_ENST00000373957.3_Silent_p.S428S|PCDH15_ENST00000395438.1_Silent_p.S450S|PCDH15_ENST00000414778.1_Silent_p.S455S|PCDH15_ENST00000395432.2_Silent_p.S413S|PCDH15_ENST00000395433.1_Silent_p.S428S|PCDH15_ENST00000373955.1_Silent_p.S450S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.S457S|PCDH15_ENST00000395430.1_Silent_p.S450S|PCDH15_ENST00000395446.1_Silent_p.S450S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGGTGAAGACTGAGGTGTAGT	0.398										HNSCC(58;0.16)																																						0			10											166	149	155					10																	55944984		2203	4300	6503	55614990	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1350A>T	10.37:g.55944984T>A			55614990	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55944984	T	A	55944984	2	1	417	1	0	0	0	0	0	0	0	1	11511	1567	55	5		5	PCDH15	10	55944984	Silent	SNP	T	TCGA-59-2372-01A-01D-1526-09	1896440	55944984	79589763	42	22825											
PDE3B	5140	genome.wustl.edu	37	11	14665916	14665916	+	Missense_Mutation	SNP	G	G	C	rs200051655	byFrequency	TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr11:14665916G>C	ENST00000282096.4	+	1	648	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	PDE3B_ENST00000455098.2_Missense_Mutation_p.E99Q|PDE3B_ENST00000534317.1_3'UTR|PSMA1_ENST00000418988.2_5'Flank	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	99					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CGCGGAACCCGAGAGCTGGGC	0.716																																																0			11											15	17	16					11																	14665916		2183	4279	6462	14622492	SO:0001583	missense	5140			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.295G>C	11.37:g.14665916G>C	ENSP00000282096:p.Glu99Gln		14622492	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460820	0.43736	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.63096	0.02;-0.02	3.4	2.46	0.29980	.	8.789750	0.00166	N	0.000000	T	0.50650	0.1628	N	0.22421	0.69	0.28932	N	0.8915	B;B;B	0.31680	0.199;0.089;0.335	B;B;B	0.28553	0.063;0.063;0.091	T	0.43540	-0.9385	10	0.29301	T	0.29	.	10.6175	0.45458	0.0:0.1955:0.8044:0.0	.	99;99;99	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	Q	99	ENSP00000282096:E99Q;ENSP00000388644:E99Q	ENSP00000282096:E99Q	E	+	1	0	PDE3B	14622492	0.996000	0.38824	0.957000	0.39632	0.871000	0.50021	1.908000	0.39907	0.636000	0.30508	0.313000	0.20887	GAG		0.716	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		C	14665916	G	C	14665916	3	2	417	1	0	0	0	0	1	0	0	0	11638	1059	37	3	297	3	PDE3B	11	14665916	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09		14665916	120340600	43	22826											
VWA5A	4013	genome.wustl.edu	37	11	123994127	123994127	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr11:123994127T>C	ENST00000456829.2	+	9	1236	c.985T>C	c.(985-987)Tat>Cat	p.Y329H	VWA5A_ENST00000361352.5_Missense_Mutation_p.Y329H|VWA5A_ENST00000392744.4_Missense_Mutation_p.Y345H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Y329H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Y329H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Y329H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	329	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTTCAACATCTATGGATTTGG	0.403																																																0			11											131	129	130					11																	123994127		2201	4299	6500	123499337	SO:0001583	missense	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.985T>C	11.37:g.123994127T>C	ENSP00000407726:p.Tyr329His		123499337	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096098	0.76870	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.22945	2.53;1.93;2.53;3.16;3.16;3.16	5.96	4.83	0.62350	von Willebrand factor, type A (3);	0.371383	0.31612	N	0.007346	T	0.50069	0.1594	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.51880	-0.8649	10	0.49607	T	0.09	-13.7139	5.4164	0.16376	0.1542:0.0814:0.0:0.7644	.	345;329	B4DHS6;O00534	.;VMA5A_HUMAN	H	329;329;329;329;329;345	ENSP00000407726:Y329H;ENSP00000353485:Y329H;ENSP00000376504:Y329H;ENSP00000355070:Y329H;ENSP00000404683:Y329H;ENSP00000376501:Y345H	ENSP00000353485:Y329H	Y	+	1	0	VWA5A	123499337	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	4.212000	0.58514	1.087000	0.41251	0.533000	0.62120	TAT		0.403	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		C	123994127	T	C	123994127	3	2	417	1	0	0	0	0	1	0	0	0	17242	1522	53	4	1011	4	VWA5A	11	123994127	Missense_Mutation	SNP	T	TCGA-59-2372-01A-01D-1526-09	109328211	123994127	11012389	44	22827											
GAPDH	2597	genome.wustl.edu	37	12	6646542	6646542	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:6646542G>C	ENST00000229239.5	+	7	1177	c.511G>C	c.(511-513)Gtg>Ctg	p.V171L	GAPDH_ENST00000396859.1_Missense_Mutation_p.V171L|GAPDH_ENST00000396856.1_Missense_Mutation_p.V96L|GAPDH_ENST00000396858.1_Missense_Mutation_p.V129L|GAPDH_ENST00000396861.1_Missense_Mutation_p.V171L|RP5-940J5.9_ENST00000602946.1_RNA	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	171					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CTTTGGTATCGTGGAAGGACT	0.587																																																0			12											54	51	52					12																	6646542		2203	4300	6503	6516803	SO:0001583	missense	2597			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.511G>C	12.37:g.6646542G>C	ENSP00000229239:p.Val171Leu		6516803	E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701588	0.48307	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.62	4.62	0.57501	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.147218	0.46145	D	0.000320	T	0.38692	0.1050	L	0.52364	1.645	0.28314	N	0.922535	B;B;B;B;B	0.17038	0.006;0.006;0.006;0.004;0.02	B;B;B;B;B	0.17098	0.008;0.008;0.005;0.012;0.017	T	0.36432	-0.9748	10	0.52906	T	0.07	.	13.4227	0.61007	0.0:0.1574:0.8426:0.0	.	129;146;171;96;171	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	L	171;171;96;171;171;129	ENSP00000229239:V171L;ENSP00000380065:V96L;ENSP00000380070:V171L;ENSP00000380068:V171L;ENSP00000380067:V129L	ENSP00000229239:V171L	V	+	1	0	GAPDH	6516803	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	4.161000	0.58170	2.403000	0.81681	0.561000	0.74099	GTG		0.587	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		C	6646542	G	C	6646542	3	2	417	1	0	0	0	0	1	0	0	0	6236	1145	40	3	533	3	GAPDH	12	6646542	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09		6646542	127205353	45	22828											
ADAMTS20	80070	genome.wustl.edu	37	12	43826516	43826516	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:43826516T>A	ENST00000389420.3	-	20	2818	c.2819A>T	c.(2818-2820)cAg>cTg	p.Q940L	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.Q94L|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q940L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	940	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGAACAGTCTGTCCTTCATG	0.423																																																0			12											200	171	181					12																	43826516		2203	4300	6503	42112783	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2819A>T	12.37:g.43826516T>A	ENSP00000374071:p.Gln940Leu		42112783	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957627	0.34565	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61980	0.23;0.06;0.07;0.06	4.43	4.43	0.53597	.	0.447145	0.18824	N	0.130162	T	0.47746	0.1462	L	0.38838	1.175	0.28963	N	0.889694	B;B	0.20368	0.012;0.044	B;B	0.14023	0.009;0.01	T	0.42015	-0.9476	10	0.45353	T	0.12	.	5.9595	0.19291	0.1538:0.0:0.2647:0.5815	.	940;94	P59510;E9PBD5	ATS20_HUMAN;.	L	940;106;94;940;940	ENSP00000374071:Q940L;ENSP00000447427:Q106L;ENSP00000378911:Q94L;ENSP00000448341:Q940L	ENSP00000374068:Q940L	Q	-	2	0	ADAMTS20	42112783	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.730000	0.55006	1.931000	0.55961	0.533000	0.62120	CAG		0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43826516	T	A	43826516	3	1	417	1	0	0	0	0	1	0	0	0	266	1580	55	5	2992	5	ADAMTS20	12	43826516	Missense_Mutation	SNP	T	TCGA-59-2372-01A-01D-1526-09	37179974	43826516	90025379	46	22829											
ACVRL1	94	genome.wustl.edu	37	12	52306961	52306961	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:52306961G>A	ENST00000388922.4	+	3	423	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000550683.1_Missense_Mutation_p.R61Q	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	47					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTACCTGCCGGGGGGCCTGG	0.682																																																0			12	GRCh37	CM060789	ACVRL1	M																																				50593228	SO:0001583	missense	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.140G>A	12.37:g.52306961G>A	ENSP00000373574:p.Arg47Gln		50593228	A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249563	0.22880	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683	D;D;D	0.93659	-3.26;-3.26;-3.26	5.76	0.734	0.18294	.	0.562600	0.14942	N	0.289472	T	0.80048	0.4552	N	0.05383	-0.06	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.65236	-0.6217	10	0.08179	T	0.78	.	4.955	0.14035	0.6981:0.0:0.1633:0.1386	.	47	P37023	ACVL1_HUMAN	Q	47;47;61;61	ENSP00000373574:R47Q;ENSP00000446724:R61Q;ENSP00000447884:R61Q	ENSP00000267008:R47Q	R	+	2	0	ACVRL1	50593228	0.871000	0.30034	0.999000	0.59377	0.809000	0.45718	-0.086000	0.11233	0.101000	0.17610	-0.960000	0.02634	CGG		0.682	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			A	52306961	G	A	52306961	3	1	417	1	0	0	0	0	1	0	0	0	225	1116	39	1	146	1	ACVRL1	12	52306961	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	8480445	52306961	81544934	47	22830											
KRT83	3889	genome.wustl.edu	37	12	52710722	52710722	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:52710722A>G	ENST00000293670.3	-	5	898	c.836T>C	c.(835-837)aTc>aCc	p.I279T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	279	Coil 2.|Rod.		I -> M (in dbSNP:rs2852464). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9084137}.		aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCGGCAACGATGCAGTCCAT	0.592																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)											0			12											178	147	158					12																	52710722		2203	4300	6503	50996989	SO:0001583	missense	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.836T>C	12.37:g.52710722A>G	ENSP00000293670:p.Ile279Thr		50996989	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336663	0.60963	.	.	ENSG00000170523	ENST00000293670	D	0.90261	-2.64	3.9	3.9	0.45041	Filament (1);	0.648869	0.12705	U	0.446038	D	0.92080	0.7490	M	0.78801	2.425	0.33265	D	0.560229	B	0.30104	0.268	B	0.39339	0.297	D	0.94184	0.7434	10	0.72032	D	0.01	.	13.0274	0.58823	1.0:0.0:0.0:0.0	.	279	P78385	KRT83_HUMAN	T	279	ENSP00000293670:I279T	ENSP00000293670:I279T	I	-	2	0	KRT83	50996989	1.000000	0.71417	0.057000	0.19452	0.632000	0.37999	9.178000	0.94855	1.544000	0.49359	0.459000	0.35465	ATC		0.592	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		G	52710722	A	G	52710722	3	3	417	1	0	0	0	0	1	0	0	0	8497	333	12	4	665	4	KRT83	12	52710722	Missense_Mutation	SNP	A	TCGA-59-2372-01A-01D-1526-09	403761	52710722	81141173	48	22831											
EEA1	8411	genome.wustl.edu	37	12	93247726	93247726	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:93247726G>C	ENST00000322349.8	-	6	635	c.371C>G	c.(370-372)gCc>gGc	p.A124G		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	124					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATCAGGTTTGGCCTCCTCAAT	0.299																																																0			12											44	41	42					12																	93247726		2203	4298	6501	91771857	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.371C>G	12.37:g.93247726G>C	ENSP00000317955:p.Ala124Gly		91771857	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	5.331	0.246467	0.10130	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.66099	-0.19	5.6	3.41	0.39046	.	0.303339	0.23700	N	0.045438	T	0.41166	0.1147	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.21724	-1.0237	10	0.29301	T	0.29	.	9.4147	0.38514	0.09:0.1502:0.7598:0.0	.	124	Q15075	EEA1_HUMAN	G	124;123	ENSP00000317955:A124G	ENSP00000317955:A124G	A	-	2	0	EEA1	91771857	0.866000	0.29940	0.745000	0.31077	0.314000	0.28054	1.945000	0.40273	1.341000	0.45600	-0.282000	0.10007	GCC		0.299	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		C	93247726	G	C	93247726	3	2	417	1	0	0	0	0	1	0	0	0	4921	1203	42	3	3960	3	EEA1	12	93247726	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	40537004	93247726	40604169	49	22832											
HIP1R	9026	genome.wustl.edu	37	12	123332626	123332626	+	Nonsense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:123332626G>T	ENST00000253083.4	+	2	267	c.142G>T	c.(142-144)Gag>Tag	p.E48*		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	48	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCGTGAAGGAGAAGCACGC	0.632																																																0			12											79	71	74					12																	123332626		2203	4300	6503	121898579	SO:0001587	stop_gained	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.142G>T	12.37:g.123332626G>T	ENSP00000253083:p.Glu48*		121898579	A6NHQ6|Q6NXG8|Q9UED9	Nonsense_Mutation	SNP	ENST00000253083.4	37	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	37	6.304187	0.97458	.	.	ENSG00000130787	ENST00000253083	.	.	.	4.56	4.56	0.56223	.	0.101220	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-31.5716	17.3404	0.87294	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000253083:E48X	E	+	1	0	HIP1R	121898579	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.411000	0.97342	2.063000	0.61619	0.462000	0.41574	GAG		0.632	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		T	123332626	G	T	123332626	4	4	417	1	0	0	0	0	0	1	0	0	7115	1175	41	3	148	3	HIP1R	12	123332626	Nonsense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	30084900	123332626	10519269	50	22833											
SETD8	387893	genome.wustl.edu	37	12	123892121	123892121	+	Silent	SNP	C	C	T	rs200452780		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:123892121C>T	ENST00000402868.3	+	8	1356	c.930C>T	c.(928-930)caC>caT	p.H310H	SETD8_ENST00000330479.4_Silent_p.H310H			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	351	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CCAAACTGCACGACATCGACG	0.572																																																0			12											109	80	90					12																	123892121		2203	4298	6501	122458074	SO:0001819	synonymous_variant	387893			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.930C>T	12.37:g.123892121C>T			122458074	A8K9D0|Q86W83|Q8TD09	Silent	SNP	ENST00000402868.3	37	CCDS9247.1																																																																																				0.572	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		T	123892121	C	T	123892121	2	4	417	1	0	0	0	0	0	0	0	1	14140	535	19	1		1	SETD8	12	123892121	Silent	SNP	C	TCGA-59-2372-01A-01D-1526-09	559495	123892121	9959774	51	22834											
LATS2	26524	genome.wustl.edu	37	13	21553914	21553914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:21553914C>T	ENST00000382592.4	-	7	3093	c.2688G>A	c.(2686-2688)tgG>tgA	p.W896*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.W896*	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CAACACTCCACCAGTCACAGA	0.493																																																0			13											91	74	80					13																	21553914		2203	4300	6503	20451914	SO:0001587	stop_gained	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2688G>A	13.37:g.21553914C>T	ENSP00000372035:p.Trp896*		20451914		Nonsense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	44	10.934400	0.99491	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8612	0.96785	0.0:1.0:0.0:0.0	.	.	.	.	X	896	.	ENSP00000372035:W896X	W	-	3	0	LATS2	20451914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.767000	0.95098	0.555000	0.69702	TGG		0.493	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			T	21553914	C	T	21553914	4	4	417	1	0	0	0	0	0	1	0	0	8647	508	18	2	586	2	LATS2	13	21553914	Nonsense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09		21553914	93615964	52	22835											
FLT3	2322	genome.wustl.edu	37	13	28611346	28611346	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:28611346T>C	ENST00000241453.7	-	10	1366	c.1285A>G	c.(1285-1287)Aaa>Gaa	p.K429E	FLT3_ENST00000537084.1_Missense_Mutation_p.K429E|FLT3_ENST00000380982.4_Missense_Mutation_p.K429E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	429					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGAACATTTTGGTAAATTGG	0.289			"Mis, O"		"AML, ALL"																																		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13											105	107	106					13																	28611346		2203	4300	6503	27509346	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1285A>G	13.37:g.28611346T>C	ENSP00000241453:p.Lys429Glu		27509346	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680529	0.68042	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77877	-1.06;-1.13;-0.86	6.08	4.88	0.63580	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	L	0.29908	0.895	0.36316	D	0.857937	D;D	0.76494	0.999;0.997	D;D	0.72625	0.978;0.929	T	0.80567	-0.1325	10	0.25751	T	0.34	.	13.5183	0.61553	0.0:0.0:0.1302:0.8697	.	429;429	P36888-2;P36888	.;FLT3_HUMAN	E	429	ENSP00000241453:K429E;ENSP00000370369:K429E;ENSP00000438139:K429E	ENSP00000241453:K429E	K	-	1	0	FLT3	27509346	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.647000	0.67923	1.099000	0.41499	0.533000	0.62120	AAA		0.289	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			C	28611346	T	C	28611346	3	2	417	1	0	0	0	0	1	0	0	0	5942	1821	63	4	1756	4	FLT3	13	28611346	Missense_Mutation	SNP	T	TCGA-59-2372-01A-01D-1526-09	7057432	28611346	86558532	53	22836											
TNFSF11	8600	genome.wustl.edu	37	13	43180995	43180995	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:43180995C>G	ENST00000239849.6	+	5	1046	c.895C>G	c.(895-897)Ctg>Gtg	p.L299V	TNFSF11_ENST00000358545.2_Missense_Mutation_p.L226V|TNFSF11_ENST00000398795.2_Missense_Mutation_p.L226V|TNFSF11_ENST00000544862.1_Missense_Mutation_p.L226V|TNFSF11_ENST00000405262.2_Missense_Mutation_p.L226V			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	299					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	CCCCTCCTTACTGGATCCGGA	0.418																																																0			13											95	98	97					13																	43180995		2203	4300	6503	42078995	SO:0001583	missense	8600			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.895C>G	13.37:g.43180995C>G	ENSP00000239849:p.Leu299Val		42078995	O14723|Q96Q17|Q9P2Q3	Missense_Mutation	SNP	ENST00000239849.6	37	CCDS9384.1	.	.	.	.	.	.	.	.	.	.	C	9.633	1.136872	0.21123	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.74	4.01	0.46588	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.64402	D	0.000001	D	0.90889	0.7137	N	0.16368	0.405	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.86203	0.1620	10	0.02654	T	1	-12.1267	10.251	0.43368	0.0:0.797:0.0:0.203	.	299	O14788	TNF11_HUMAN	V	226;226;299;226;226	ENSP00000351347:L226V;ENSP00000384042:L226V;ENSP00000239849:L299V;ENSP00000381775:L226V;ENSP00000444913:L226V	ENSP00000239849:L299V	L	+	1	2	TNFSF11	42078995	1.000000	0.71417	0.971000	0.41717	0.632000	0.37999	0.898000	0.28404	0.877000	0.35895	0.563000	0.77884	CTG		0.418	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			G	43180995	C	G	43180995	3	3	417	1	0	0	0	0	1	0	0	0	16302	564	20	3	913	3	TNFSF11	13	43180995	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	14569649	43180995	71988883	54	22837											
KDELC1	79070	genome.wustl.edu	37	13	103450935	103450935	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:103450935G>A	ENST00000376004.4	-	1	422	c.86C>T	c.(85-87)cCg>cTg	p.P29L	BIVM_ENST00000257336.1_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000448849.2_5'Flank|BIVM_ENST00000419638.1_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	29						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCTCTTCTCCGGGCTCAGCTG	0.517																																																0			13											64	62	63					13																	103450935		2203	4300	6503	102248936	SO:0001583	missense	79070			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.86C>T	13.37:g.103450935G>A	ENSP00000365172:p.Pro29Leu		102248936	Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883994	0.91814	.	.	ENSG00000134901	ENST00000376004	T	0.28666	1.6	5.32	4.47	0.54385	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.112447	0.64402	D	0.000011	T	0.53753	0.1816	M	0.73217	2.22	0.58432	D	0.999992	D	0.71674	0.998	D	0.67231	0.95	T	0.59064	-0.7524	10	0.59425	D	0.04	.	15.9607	0.79928	0.0:0.1353:0.8647:0.0	.	29	Q6UW63	KDEL1_HUMAN	L	29	ENSP00000365172:P29L	ENSP00000365172:P29L	P	-	2	0	KDELC1	102248936	1.000000	0.71417	0.931000	0.37212	0.984000	0.73092	6.813000	0.75231	1.359000	0.45940	-0.182000	0.12963	CCG		0.517	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			A	103450935	G	A	103450935	3	1	417	1	0	0	0	0	1	0	0	0	8117	1116	39	1	1462	1	KDELC1	13	103450935	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	60269940	103450935	11718943	55	22838											
CDC16	8881	genome.wustl.edu	37	13	115030666	115030666	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:115030666G>C	ENST00000356221.3	+	17	1662	c.1554G>C	c.(1552-1554)atG>atC	p.M518I	CDC16_ENST00000252457.5_Missense_Mutation_p.M517I|CDC16_ENST00000375312.3_Missense_Mutation_p.M373I|CDC16_ENST00000375310.1_Missense_Mutation_p.M424I|CDC16_ENST00000252458.6_Missense_Mutation_p.M373I|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000360383.3_Missense_Mutation_p.M518I|CDC16_ENST00000375308.1_Missense_Mutation_p.M424I			Q13042	CDC16_HUMAN	cell division cycle 16	518					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CTGTTACAATGCTTGGTCATT	0.348																																																0			13											341	320	327					13																	115030666		2203	4300	6503	114048768	SO:0001583	missense	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1554G>C	13.37:g.115030666G>C	ENSP00000348554:p.Met518Ile		114048768	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453051	0.63290	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T	0.76060	-0.99;-0.99	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	N	0.24115	0.695	0.80722	D	1	B;B;B	0.19073	0.023;0.033;0.019	B;B;B	0.26614	0.071;0.03;0.02	T	0.58381	-0.7646	9	.	.	.	-13.5267	20.0193	0.97489	0.0:0.0:1.0:0.0	.	466;517;518	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	I	518;373;518;424;517;424;373	ENSP00000364461:M373I;ENSP00000252458:M373I	.	M	+	3	0	CDC16	114048768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.581000	0.90788	2.739000	0.93911	0.650000	0.86243	ATG		0.348	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		C	115030666	G	C	115030666	3	2	417	1	0	0	0	0	1	0	0	0	3058	1319	46	3	1620	3	CDC16	13	115030666	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	11579731	115030666	139212	56	22839											
NFATC4	4776	genome.wustl.edu	37	14	24845700	24845700	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr14:24845700G>T	ENST00000250373.4	+	9	2398	c.2257G>T	c.(2257-2259)Ggg>Tgg	p.G753W	NFATC4_ENST00000539237.2_Missense_Mutation_p.G785W|NFATC4_ENST00000556169.1_Missense_Mutation_p.G741W|NFATC4_ENST00000413692.2_Missense_Mutation_p.G816W|NFATC4_ENST00000554473.1_Missense_Mutation_p.G288W|NFATC4_ENST00000556279.1_Missense_Mutation_p.G785W|NFATC4_ENST00000553708.1_Missense_Mutation_p.G753W|NFATC4_ENST00000554966.1_Missense_Mutation_p.G766W|NFATC4_ENST00000555453.1_Missense_Mutation_p.G741W|NFATC4_ENST00000557767.1_Missense_Mutation_p.G41W|NFATC4_ENST00000554591.1_Missense_Mutation_p.G816W|NFATC4_ENST00000555590.1_Missense_Mutation_p.G766W|NFATC4_ENST00000554661.1_Missense_Mutation_p.G683W|NFATC4_ENST00000555802.1_Missense_Mutation_p.G41W|NFATC4_ENST00000422617.3_Missense_Mutation_p.G741W|NFATC4_ENST00000554050.1_Missense_Mutation_p.G753W|NFATC4_ENST00000556759.1_Missense_Mutation_p.G288W|NFATC4_ENST00000557451.1_Missense_Mutation_p.G683W|NFATC4_ENST00000553469.1_Missense_Mutation_p.G785W|NFATC4_ENST00000555167.1_Missense_Mutation_p.G288W|NFATC4_ENST00000554344.1_Missense_Mutation_p.G683W|NFATC4_ENST00000424781.2_Missense_Mutation_p.G766W|NFATC4_ENST00000555393.1_Missense_Mutation_p.G41W|NFATC4_ENST00000553879.1_Missense_Mutation_p.G683W	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	753	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCCCAGACGGGGCCCCCACC	0.622																																																0			14											44	48	46					14																	24845700		2203	4300	6503	23915540	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2257G>T	14.37:g.24845700G>T	ENSP00000250373:p.Gly753Trp		23915540	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034369	0.75617	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167;ENST00000557767;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62364	3.04;3.15;3.12;3.17;3.08;3.07;3.11;3.16;3.17;3.12;3.07;2.8;2.8;2.85;2.84;2.76;2.75;2.78;1.44;1.35;1.34;0.03;0.08	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000038	T	0.64811	0.2632	N	0.19112	0.55	0.40897	D	0.984122	D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D	0.71870	0.963;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.945	T	0.65051	-0.6262	10	0.38643	T	0.18	-11.0484	13.9397	0.64048	0.0:0.0:1.0:0.0	.	741;741;785;785;766;766;766;816;816;741;785;816;753	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	W	816;816;766;766;766;785;785;785;753;753;753;683;683;683;741;683;741;741;288;288;288;41;41;41	ENSP00000388910:G816W;ENSP00000452039:G816W;ENSP00000451224:G766W;ENSP00000450644:G766W;ENSP00000388668:G766W;ENSP00000439350:G785W;ENSP00000452270:G785W;ENSP00000451502:G785W;ENSP00000451151:G753W;ENSP00000250373:G753W;ENSP00000450590:G753W;ENSP00000452349:G683W;ENSP00000450469:G683W;ENSP00000450733:G683W;ENSP00000451454:G741W;ENSP00000451284:G683W;ENSP00000396788:G741W;ENSP00000450686:G741W;ENSP00000450810:G288W;ENSP00000451183:G288W;ENSP00000451395:G288W;ENSP00000451801:G41W;ENSP00000451590:G41W	ENSP00000250373:G753W	G	+	1	0	NFATC4	23915540	0.996000	0.38824	0.998000	0.56505	0.997000	0.91878	3.364000	0.52328	2.667000	0.90743	0.561000	0.74099	GGG		0.622	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		T	24845700	G	T	24845700	3	4	417	1	0	0	0	0	1	0	0	0	10365	1232	43	3	2484	3	NFATC4	14	24845700	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09		24845700	82503840	57	22840											
KCNH5	27133	genome.wustl.edu	37	14	63246582	63246582	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr14:63246582G>A	ENST00000322893.7	-	10	2151	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.A570V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	628					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGGACGTTCGCACATGCATG	0.453																																																0			14											104	91	96					14																	63246582		2203	4300	6503	62316335	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1883C>T	14.37:g.63246582G>A	ENSP00000321427:p.Ala628Val		62316335	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785688	0.70337	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.94092	-3.35;-3.35	5.72	5.72	0.89469	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.78344	2.41	0.80722	D	1	D;D	0.71674	0.983;0.998	P;D	0.65684	0.66;0.937	D	0.96344	0.9253	10	0.59425	D	0.04	.	19.8759	0.96870	0.0:0.0:1.0:0.0	.	570;628	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	V	628;570	ENSP00000321427:A628V;ENSP00000378419:A570V	ENSP00000321427:A628V	A	-	2	0	KCNH5	62316335	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	9.864000	0.99589	2.704000	0.92352	0.585000	0.79938	GCG		0.453	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		A	63246582	G	A	63246582	3	1	417	1	0	0	0	0	1	0	0	0	8035	1087	38	1	1125	1	KCNH5	14	63246582	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	38400882	63246582	44102958	58	22841											
PCNX	22990	genome.wustl.edu	37	14	71513768	71513768	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr14:71513768A>G	ENST00000304743.2	+	21	4552	c.4106A>G	c.(4105-4107)aAt>aGt	p.N1369S	PCNX_ENST00000439984.3_Missense_Mutation_p.N1258S|PCNX_ENST00000238570.5_Missense_Mutation_p.N1369S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1369						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTGTTCTCAATGAACTGAGC	0.393																																																0			14											111	106	107					14																	71513768		2203	4300	6503	70583521	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4106A>G	14.37:g.71513768A>G	ENSP00000304192:p.Asn1369Ser		70583521	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.36|10.36	1.329664|1.329664	0.24167|0.24167	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.09350	.|3.38;3.37;2.99	4.8|4.8	3.65|3.65	0.41850|0.41850	.|.	.|0.044078	.|0.85682	.|N	.|0.000000	T|T	0.07548|0.07548	0.0190|0.0190	L|L	0.34521|0.34521	1.04|1.04	0.54753|0.54753	D|D	0.999988|0.999988	.|P;B;B	.|0.35745	.|0.518;0.22;0.15	.|B;B;B	.|0.33690	.|0.147;0.168;0.097	T|T	0.30268|0.30268	-0.9984|-0.9984	5|10	.|0.11794	.|T	.|0.64	.|.	10.503|10.503	0.44817|0.44817	0.9225:0.0:0.0775:0.0|0.9225:0.0:0.0775:0.0	.|.	.|1369;1258;1369	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|S	428|1369;1369;1258	.|ENSP00000304192:N1369S;ENSP00000238570:N1369S;ENSP00000396617:N1258S	.|ENSP00000238570:N1369S	M|N	+|+	1|2	0|0	PCNX|PCNX	70583521|70583521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	4.548000|4.548000	0.60718|0.60718	0.788000|0.788000	0.33755|0.33755	0.374000|0.374000	0.22700|0.22700	ATG|AAT		0.393	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		G	71513768	A	G	71513768	3	3	417	1	0	0	0	0	1	0	0	0	11591	101	4	4	4188	4	PCNX	14	71513768	Missense_Mutation	SNP	A	TCGA-59-2372-01A-01D-1526-09	8267186	71513768	35835772	59	22842											
CATSPER2	117155	genome.wustl.edu	37	15	43939654	43939654	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr15:43939654G>T	ENST00000321596.5	-	3	356	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	CATSPER2_ENST00000396879.1_Missense_Mutation_p.Q53K|CATSPER2_ENST00000464721.1_5'UTR|CATSPER2_ENST00000354127.4_Missense_Mutation_p.Q53K|CATSPER2_ENST00000381761.1_Missense_Mutation_p.Q59K|CATSPER2_ENST00000355438.2_Missense_Mutation_p.Q53K|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	53					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGTTTCTTCTGGCGGGAAGGA	0.443																																																0			15											73	84	80					15																	43939654		2199	4296	6495	41726946	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.157C>A	15.37:g.43939654G>T	ENSP00000321463:p.Gln53Lys		41726946	Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950110	0.34377	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438;ENST00000432420;ENST00000409481	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	3.38	1.11	0.20524	.	4.360870	0.01645	U	0.024241	T	0.32346	0.0826	M	0.72118	2.19	0.09310	N	1	P;P;P	0.44690	0.831;0.841;0.754	B;B;B	0.43052	0.384;0.406;0.23	T	0.26430	-1.0103	10	0.21540	T	0.41	.	7.2873	0.26346	0.0:0.0:0.5219:0.4781	.	53;59;53	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	K	53;53;59;53;53;53;53;53	ENSP00000380088:Q53K;ENSP00000371180:Q59K;ENSP00000321463:Q53K;ENSP00000339137:Q53K;ENSP00000347613:Q53K;ENSP00000407694:Q53K;ENSP00000386595:Q53K	ENSP00000299989:Q53K	Q	-	1	0	CATSPER2	41726946	0.962000	0.33011	0.484000	0.27391	0.257000	0.26127	1.690000	0.37711	0.686000	0.31488	0.184000	0.17185	CAG		0.443	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		T	43939654	G	T	43939654	3	4	417	1	0	0	0	0	1	0	0	0	2688	1357	47	3	1518	3	CATSPER2	15	43939654	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09		43939654	58591738	60	22843											
SPG11	80208	genome.wustl.edu	37	15	44900695	44900695	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr15:44900695A>C	ENST00000261866.7	-	19	3416	c.3400T>G	c.(3400-3402)Tgc>Ggc	p.C1134G	SPG11_ENST00000558319.1_Missense_Mutation_p.C1134G|SPG11_ENST00000427534.2_Missense_Mutation_p.C1134G|SPG11_ENST00000535302.2_Missense_Mutation_p.C1134G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1134					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGAGGAGTGCACTGTGGGAAG	0.418																																																0			15											151	135	141					15																	44900695		2198	4298	6496	42687987	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3400T>G	15.37:g.44900695A>C	ENSP00000261866:p.Cys1134Gly		42687987	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	8.948	0.967397	0.18659	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.30981	1.51;1.51;1.51	5.88	4.72	0.59763	.	0.502110	0.21773	N	0.069336	T	0.21267	0.0512	N	0.22421	0.69	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.02942	-1.1091	10	0.30078	T	0.28	.	12.1092	0.53830	0.8632:0.0:0.0:0.1368	.	1134;1134;1134	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	G	1134	ENSP00000261866:C1134G;ENSP00000445278:C1134G;ENSP00000396110:C1134G	ENSP00000261866:C1134G	C	-	1	0	SPG11	42687987	0.835000	0.29415	0.886000	0.34754	0.989000	0.77384	0.450000	0.21762	0.970000	0.38263	0.533000	0.62120	TGC		0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			C	44900695	A	C	44900695	3	2	417	1	0	0	0	0	1	0	0	0	15043	159	6	5	4019	5	SPG11	15	44900695	Missense_Mutation	SNP	A	TCGA-59-2372-01A-01D-1526-09	961041	44900695	57630697	61	22844											
IDH3A	3419	genome.wustl.edu	37	15	78452454	78452454	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr15:78452454G>A	ENST00000299518.2	+	4	278	c.195G>A	c.(193-195)gaG>gaA	p.E65E	IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Silent_p.E65E	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	65					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						AGTGGGAGGAGCGGAACGTCA	0.478																																																0			15											89	82	84					15																	78452454		2196	4293	6489	76239509	SO:0001819	synonymous_variant	3419				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.195G>A	15.37:g.78452454G>A			76239509	D3DW83|Q9H3X0	Silent	SNP	ENST00000299518.2	37	CCDS10297.1																																																																																				0.478	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		A	78452454	G	A	78452454	2	1	417	1	0	0	0	0	0	0	0	1	7496	962	34	2		2	IDH3A	15	78452454	Silent	SNP	G	TCGA-59-2372-01A-01D-1526-09	33551759	78452454	24078938	62	22845											
ADAMTS7	11173	genome.wustl.edu	37	15	79058719	79058719	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr15:79058719C>A	ENST00000388820.4	-	19	3744	c.3534G>T	c.(3532-3534)agG>agT	p.R1178S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1178					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGTGGAAACCCTGGGCCAGG	0.617																																																0			15											13	15	14					15																	79058719		2162	4214	6376	76845774	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3534G>T	15.37:g.79058719C>A	ENSP00000373472:p.Arg1178Ser		76845774	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	0.150	-1.092218	0.01858	.	.	ENSG00000136378	ENST00000388820	T	0.58506	0.33	3.41	-5.28	0.02755	.	1.515930	0.03868	N	0.275092	T	0.33498	0.0865	N	0.22421	0.69	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.32241	-0.9914	10	0.05525	T	0.97	.	5.7144	0.17952	0.2979:0.4604:0.2416:0.0	.	1178	Q9UKP4	ATS7_HUMAN	S	1178	ENSP00000373472:R1178S	ENSP00000373472:R1178S	R	-	3	2	ADAMTS7	76845774	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.995000	0.03712	-0.881000	0.03992	-0.549000	0.04216	AGG		0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		A	79058719	C	A	79058719	3	1	417	1	0	0	0	0	1	0	0	0	271	622	22	3	1550	3	ADAMTS7	15	79058719	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	606265	79058719	23472673	63	22846											
KREMEN2	79412	genome.wustl.edu	37	16	3014558	3014558	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:3014558C>G	ENST00000303746.5	+	1	614	c.37C>G	c.(37-39)Ctc>Gtc	p.L13V	KREMEN2_ENST00000575769.1_Missense_Mutation_p.L13V|KREMEN2_ENST00000571007.1_Missense_Mutation_p.L13V|KREMEN2_ENST00000572045.1_Missense_Mutation_p.L13V|KREMEN2_ENST00000319500.6_Missense_Mutation_p.L13V|KREMEN2_ENST00000575885.1_Missense_Mutation_p.L13V			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	13					Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCTCTTTCTCCTCTTCCTCCC	0.687																																																0			16											58	62	61					16																	3014558		2198	4300	6498	2954559	SO:0001583	missense	79412			BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.37C>G	16.37:g.3014558C>G	ENSP00000304422:p.Leu13Val		2954559	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	ENST00000303746.5	37	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	c	11.93	1.786657	0.31593	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	T;T	0.56444	0.46;0.49	4.58	-2.68	0.06041	Kringle-like fold (1);	0.000000	0.27951	U	0.017188	T	0.29126	0.0724	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B	0.18166	0.007;0.015;0.012;0.012;0.026;0.007	B;B;B;B;B;B	0.19148	0.006;0.01;0.015;0.024;0.022;0.006	T	0.07046	-1.0793	10	0.25751	T	0.34	.	3.2014	0.06651	0.2974:0.3213:0.0:0.3813	.	13;13;13;13;13;13	B4DXF6;Q53F67;Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;.;.;KREM2_HUMAN	V	13	ENSP00000304422:L13V;ENSP00000322079:L13V	ENSP00000304422:L13V	L	+	1	0	KREMEN2	2954559	0.000000	0.05858	0.001000	0.08648	0.208000	0.24298	0.041000	0.13927	-0.413000	0.07507	-0.348000	0.07805	CTC		0.687	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		G	3014558	C	G	3014558	3	3	417	1	0	0	0	0	1	0	0	0	8443	681	24	3	39	3	KREMEN2	16	3014558	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09		3014558	87340195	64	22847											
DNAJA3	9093	genome.wustl.edu	37	16	4475904	4475904	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:4475904C>A	ENST00000262375.6	+	1	99	c.22C>A	c.(22-24)Cgc>Agc	p.R8S	DNAJA3_ENST00000431375.2_5'UTR|DNAJA3_ENST00000355296.4_Missense_Mutation_p.R8S	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	8					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GTGCTCCACACGCTGGTTGCT	0.751																																																0			16											6	8	7					16																	4475904		2084	4073	6157	4415905	SO:0001583	missense	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.22C>A	16.37:g.4475904C>A	ENSP00000262375:p.Arg8Ser		4415905	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510085	0.96386	.	.	ENSG00000103423	ENST00000262375;ENST00000355296	T;T	0.66099	-0.19;-0.15	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72520	-0.4268	10	0.87932	D	0	-17.9338	15.7769	0.78228	0.0:1.0:0.0:0.0	.	8;8	Q96EY1-2;Q96EY1	.;DNJA3_HUMAN	S	8	ENSP00000262375:R8S;ENSP00000347445:R8S	ENSP00000262375:R8S	R	+	1	0	DNAJA3	4415905	0.999000	0.42202	1.000000	0.80357	0.930000	0.56654	1.628000	0.37060	2.797000	0.96272	0.655000	0.94253	CGC		0.751	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			A	4475904	C	A	4475904	3	1	417	1	0	0	0	0	1	0	0	0	4613	536	19	3	24	3	DNAJA3	16	4475904	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	1461346	4475904	85878849	65	22848											
NDRG4	65009	genome.wustl.edu	37	16	58538308	58538308	+	Silent	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:58538308C>T	ENST00000570248.1	+	4	400	c.294C>T	c.(292-294)agC>agT	p.S98S	NDRG4_ENST00000563799.1_Silent_p.S116S|NDRG4_ENST00000356752.4_Silent_p.S128S|NDRG4_ENST00000394282.4_Silent_p.S150S|NDRG4_ENST00000562999.1_Silent_p.S98S|NDRG4_ENST00000258187.5_Silent_p.S130S|NDRG4_ENST00000568640.1_Silent_p.S116S|NDRG4_ENST00000566192.1_Silent_p.S98S|NDRG4_ENST00000394279.2_Silent_p.S130S|NDRG4_ENST00000569923.1_Silent_p.S43S	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	98					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGCTCCCCAGCGTGGTGCAGC	0.672																																																0			16											93	98	97					16																	58538308		2198	4300	6498	57095809	SO:0001819	synonymous_variant	65009			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.294C>T	16.37:g.58538308C>T			57095809	B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	CCDS58466.1																																																																																				0.672	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			T	58538308	C	T	58538308	2	4	417	1	0	0	0	0	0	0	0	1	10254	767	27	1		1	NDRG4	16	58538308	Silent	SNP	C	TCGA-59-2372-01A-01D-1526-09	54062404	58538308	31816445	66	22849											
HAS3	3038	genome.wustl.edu	37	16	69148781	69148781	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:69148781C>T	ENST00000306560.1	+	4	1430	c.1274C>T	c.(1273-1275)aCc>aTc	p.T425I	HAS3_ENST00000569188.1_Missense_Mutation_p.T425I|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	425					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		ATCAAGGCCACCTACGCCTGC	0.537																																																0			16											120	112	115					16																	69148781		2198	4300	6498	67706282	SO:0001583	missense	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1274C>T	16.37:g.69148781C>T	ENSP00000304440:p.Thr425Ile		67706282	A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041709	0.35989	.	.	ENSG00000103044	ENST00000306560	T	0.41065	1.01	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	N	0.21142	0.635	0.49483	D	0.999795	B	0.11235	0.004	B	0.09377	0.004	T	0.18023	-1.0350	10	0.07990	T	0.79	-18.0988	20.2544	0.98414	0.0:1.0:0.0:0.0	.	425	O00219	HAS3_HUMAN	I	425	ENSP00000304440:T425I	ENSP00000304440:T425I	T	+	2	0	HAS3	67706282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.044000	0.71012	2.885000	0.99019	0.655000	0.94253	ACC		0.537	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		T	69148781	C	T	69148781	3	4	417	1	0	0	0	0	1	0	0	0	6963	507	18	2	1284	2	HAS3	16	69148781	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	10610473	69148781	21205972	67	22850											
NFAT5	10725	genome.wustl.edu	37	16	69693665	69693665	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:69693665C>G	ENST00000354436.2	+	6	1496	c.1178C>G	c.(1177-1179)gCt>gGt	p.A393G	NFAT5_ENST00000349945.1_Missense_Mutation_p.A317G|NFAT5_ENST00000432919.1_Missense_Mutation_p.A411G|NFAT5_ENST00000393742.2_Missense_Mutation_p.A317G|NFAT5_ENST00000567239.1_Missense_Mutation_p.A411G|NFAT5_ENST00000566899.1_Missense_Mutation_p.A317G	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	393	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTGAGGAATGCTGATGTCGAA	0.363																																																0			16											132	126	128					16																	69693665		2198	4300	6498	68251166	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1178C>G	16.37:g.69693665C>G	ENSP00000346420:p.Ala393Gly		68251166	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912466	0.92178	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.08	5.08	0.68730	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.59436	1.845	0.80722	D	1	P;P;D;P	0.71674	0.73;0.855;0.998;0.46	P;P;D;B	0.79108	0.5;0.586;0.992;0.174	T	0.65768	-0.6088	10	0.72032	D	0.01	.	18.4551	0.90717	0.0:1.0:0.0:0.0	.	411;393;411;317	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	G	411;411;317;393;317	ENSP00000396538:A411G;ENSP00000338806:A317G;ENSP00000346420:A393G;ENSP00000377343:A317G	ENSP00000338806:A317G	A	+	2	0	NFAT5	68251166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.790000	0.85794	2.361000	0.80049	0.460000	0.39030	GCT		0.363	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		G	69693665	C	G	69693665	3	3	417	1	0	0	0	0	1	0	0	0	10360	797	28	3	1258	3	NFAT5	16	69693665	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	544884	69693665	20661088	68	22851											
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	417	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09		7578406	73616804	69	22852											
DNAH9	1770	genome.wustl.edu	37	17	11572543	11572543	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr17:11572543G>A	ENST00000262442.4	+	16	2962	c.2894G>A	c.(2893-2895)cGg>cAg	p.R965Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R965Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	965	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGTGCCACGGCTTTCCCCA	0.532																																																0			17											107	101	103					17																	11572543		2203	4300	6503	11513268	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2894G>A	17.37:g.11572543G>A	ENSP00000262442:p.Arg965Gln		11513268	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943186	0.92526	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.27557	1.7;1.66	5.6	4.63	0.57726	.	0.153884	0.42682	D	0.000675	T	0.54481	0.1861	M	0.89287	3.02	0.80722	D	1	D	0.61080	0.989	P	0.55391	0.775	T	0.63310	-0.6666	10	0.45353	T	0.12	.	14.515	0.67814	0.0707:0.0:0.9293:0.0	.	965	Q9NYC9	DYH9_HUMAN	Q	965	ENSP00000262442:R965Q;ENSP00000414874:R965Q	ENSP00000262442:R965Q	R	+	2	0	DNAH9	11513268	1.000000	0.71417	0.729000	0.30791	0.932000	0.56968	6.426000	0.73374	1.373000	0.46208	0.655000	0.94253	CGG		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11572543	G	A	11572543	3	1	417	1	0	0	0	0	1	0	0	0	4608	1116	39	1	2956	1	DNAH9	17	11572543	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	3994137	11572543	69622667	70	22853											
CPD	1362	genome.wustl.edu	37	17	28772784	28772784	+	Silent	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr17:28772784C>A	ENST00000225719.4	+	12	2695	c.2619C>A	c.(2617-2619)tcC>tcA	p.S873S	CPD_ENST00000543464.2_Silent_p.S626S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	873	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTGTTCGATCCTCAACAGATT	0.393																																																0			17											46	43	44					17																	28772784		2203	4300	6503	25796910	SO:0001819	synonymous_variant	1362			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2619C>A	17.37:g.28772784C>A			25796910	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	CCDS11257.1																																																																																				0.393	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		A	28772784	C	A	28772784	2	1	417	1	0	0	0	0	0	0	0	1	3798	668	24	3		3	CPD	17	28772784	Silent	SNP	C	TCGA-59-2372-01A-01D-1526-09	17200241	28772784	52422426	71	22854											
OR10H1	26539	genome.wustl.edu	37	19	15917978	15917978	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr19:15917978G>A	ENST00000334920.2	-	1	958	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGAGGCTGAAGATGATGGGGC	0.488																																																0			19											82	71	75					19																	15917978		2203	4298	6501	15778978	SO:0001819	synonymous_variant	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.870C>T	19.37:g.15917978G>A			15778978	Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	CCDS12335.1																																																																																				0.488	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			A	15917978	G	A	15917978	2	1	417	1	0	0	0	0	0	0	0	1	10905	932	33	2		2	OR10H1	19	15917978	Silent	SNP	G	TCGA-59-2372-01A-01D-1526-09		15917978	43211005	72	22855											
PNMAL2	57469	genome.wustl.edu	37	19	46997806	46997806	+	Intron	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr19:46997806G>A	ENST00000377655.2	-	1	734				PNMAL2_ENST00000599531.1_Missense_Mutation_p.P306L|AC011484.1_ENST00000377652.3_5'UTR|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCTGTCCACCGGCTCCTCGTC	0.572																																																0			19											62	65	64					19																	46997806		2203	4299	6502	51689646	SO:0001627	intron_variant	0			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+182C>T	19.37:g.46997806G>A			51689646	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37																																																																																					0.572	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		A	46997806	G	A	46997806	1	1	417	0	1	0	0	0	0	0	0	0	12158	1116	39	1		1	PNMAL2	19	46997806	Intron	SNP	G	TCGA-59-2372-01A-01D-1526-09	31079828	46997806	12131177	73	22856											
CACNG7	59284	genome.wustl.edu	37	19	54417766	54417766	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr19:54417766G>A	ENST00000391767.1	+	3	421	c.209G>A	c.(208-210)gGt>gAt	p.G70D	CACNG7_ENST00000391766.1_Missense_Mutation_p.G70D|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.G70D			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	70					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CGGGAGAAAGGTCGCTGTGTG	0.557																																																0			19											68	60	63					19																	54417766		2203	4300	6503	59109578	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.209G>A	19.37:g.54417766G>A	ENSP00000375647:p.Gly70Asp		59109578	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969087	0.74131	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.89050	-2.46;-2.46;-2.46	3.14	3.14	0.36123	.	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	M	0.73372	2.23	0.80722	D	1	D	0.53312	0.959	P	0.56088	0.791	D	0.90267	0.4305	10	0.38643	T	0.18	-8.4437	12.5577	0.56263	0.0:0.0:1.0:0.0	.	70	P62955	CCG7_HUMAN	D	70	ENSP00000375647:G70D;ENSP00000222212:G70D;ENSP00000375646:G70D	ENSP00000222212:G70D	G	+	2	0	CACNG7	59109578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.208000	0.89748	2.084000	0.62774	0.561000	0.74099	GGT		0.557	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			A	54417766	G	A	54417766	3	1	417	1	0	0	0	0	1	0	0	0	2562	1261	44	2	215	2	CACNG7	19	54417766	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	7419960	54417766	4711217	74	22857											
MAVS	57506	genome.wustl.edu	37	20	3845437	3845437	+	Splice_Site	SNP	T	T	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr20:3845437T>G	ENST00000428216.2	+	6	1286		c.e6+2		MAVS_ENST00000358134.6_Splice_Site|MAVS_ENST00000416600.2_Splice_Site	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein						activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGAAATGAGGTGAGTCCTCGC	0.632																																																0			20											82	76	78					20																	3845437		2203	4300	6503	3793437	SO:0001630	splice_region_variant	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1158+2T>G	20.37:g.3845437T>G			3793437	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Splice_Site	SNP	ENST00000428216.2	37	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	T	8.947	0.967220	0.18659	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5348	0.39216	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAVS	3793437	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	2.947000	0.49058	2.042000	0.60477	0.482000	0.46254	.		0.632	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746	Intron	G	3845437	T	G	3845437	5	3	417	1	0	0	0	0	0	0	1	0	9338	1710	59	5	1178	5	MAVS	20	3845437	Splice_Site	SNP	T	TCGA-59-2372-01A-01D-1526-09		3845437	59180083	75	22858											
PLCB4	5332	genome.wustl.edu	37	20	9402041	9402041	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr20:9402041G>T	ENST00000378493.1	+	23	2231	c.2216G>T	c.(2215-2217)cGa>cTa	p.R739L	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.R739L|PLCB4_ENST00000334005.3_Missense_Mutation_p.R739L|PLCB4_ENST00000414679.2_Missense_Mutation_p.R751L|PLCB4_ENST00000378473.3_Missense_Mutation_p.R751L|PLCB4_ENST00000378501.2_Missense_Mutation_p.R739L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	739	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGGAATTCCGAACTCGCATG	0.398																																																0			20											140	124	130					20																	9402041		2203	4300	6503	9350041	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2216G>T	20.37:g.9402041G>T	ENSP00000367754:p.Arg739Leu		9350041	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349423	0.95830	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.8	5.8	0.92144	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;0.991;0.99;1.0	D;P;D;D	0.80764	0.959;0.876;0.977;0.994	D	0.91611	0.5303	10	0.87932	D	0	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	751;586;739;739	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	L	739;751;739;739;739;587	ENSP00000334105:R739L;ENSP00000367734:R751L;ENSP00000278655:R739L;ENSP00000367754:R739L;ENSP00000367762:R739L;ENSP00000390616:R587L	ENSP00000278655:R739L	R	+	2	0	PLCB4	9350041	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.869000	0.99810	2.758000	0.94735	0.563000	0.77884	CGA		0.398	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			T	9402041	G	T	9402041	3	4	417	1	0	0	0	0	1	0	0	0	12030	1058	37	3	2346	3	PLCB4	20	9402041	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	5556604	9402041	53623479	76	22859											
CPNE1	8904	genome.wustl.edu	37	20	34219904	34219904	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr20:34219904T>A	ENST00000317619.3	-	8	894	c.500A>T	c.(499-501)cAg>cTg	p.Q167L	CPNE1_ENST00000397445.1_Missense_Mutation_p.Q167L|CPNE1_ENST00000397446.1_Missense_Mutation_p.Q167L|CPNE1_ENST00000352393.4_Missense_Mutation_p.Q167L|CPNE1_ENST00000397442.1_Missense_Mutation_p.Q167L|CPNE1_ENST00000317677.5_Missense_Mutation_p.Q172L|CPNE1_ENST00000397443.1_Missense_Mutation_p.Q167L			Q99829	CPNE1_HUMAN	copine I	167	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCCATCACCCTGGCGGAAGAA	0.527																																																0			20											76	72	73					20																	34219904		2203	4300	6503	33683318	SO:0001583	missense	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.500A>T	20.37:g.34219904T>A	ENSP00000326126:p.Gln167Leu		33683318	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	t	13.01	2.108835	0.37242	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664;ENST00000416778;ENST00000439806;ENST00000420363;ENST00000434795;ENST00000440240	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37235	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.21	4.96	4.96	0.65561	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.302276	0.31392	U	0.007737	T	0.42899	0.1223	N	0.17872	0.535	0.41823	D	0.990035	D;D;D;B;D	0.67145	0.993;0.993;0.996;0.009;0.969	D;D;D;B;P	0.70487	0.955;0.955;0.969;0.004;0.873	T	0.32587	-0.9901	10	0.32370	T	0.25	-13.8564	14.4526	0.67394	0.0:0.0:0.0:1.0	.	172;167;167;167;147	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	L	167;172;167;167;167;167;167;167;143;143;167;143;167;167;167;167	ENSP00000336945:Q167L;ENSP00000317257:Q172L;ENSP00000326126:Q167L;ENSP00000380588:Q167L;ENSP00000380587:Q167L;ENSP00000380585:Q167L;ENSP00000380584:Q167L;ENSP00000415597:Q167L;ENSP00000390626:Q143L;ENSP00000416962:Q143L;ENSP00000404355:Q167L;ENSP00000389662:Q143L;ENSP00000387434:Q167L;ENSP00000401915:Q167L;ENSP00000409794:Q167L;ENSP00000397638:Q167L	ENSP00000326126:Q167L	Q	-	2	0	CPNE1	33683318	0.404000	0.25328	0.998000	0.56505	0.230000	0.25150	0.909000	0.28558	2.086000	0.62901	0.456000	0.33151	CAG		0.527	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		A	34219904	T	A	34219904	3	1	417	1	0	0	0	0	1	0	0	0	3811	1580	55	5	1157	5	CPNE1	20	34219904	Missense_Mutation	SNP	T	TCGA-59-2372-01A-01D-1526-09	24817863	34219904	28805616	77	22860											
DIDO1	11083	genome.wustl.edu	37	20	61512109	61512109	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr20:61512109G>A	ENST00000266070.4	-	16	5524	c.5199C>T	c.(5197-5199)acC>acT	p.T1733T	DIDO1_ENST00000395343.1_Silent_p.T1733T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1733	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAGCGGGGCGGTGCCCTCGC	0.632																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0			20											51	62	58					20																	61512109		2203	4297	6500	60982554	SO:0001819	synonymous_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5199C>T	20.37:g.61512109G>A			60982554	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																				0.632	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61512109	G	A	61512109	2	1	417	1	0	0	0	0	0	0	0	1	4522	1103	39	1		1	DIDO1	20	61512109	Silent	SNP	G	TCGA-59-2372-01A-01D-1526-09	27292205	61512109	1513411	78	22861											
BRWD1	54014	genome.wustl.edu	37	21	40670383	40670383	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr21:40670383C>G	ENST00000333229.2	-	5	651	c.324G>C	c.(322-324)agG>agC	p.R108S	BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000342449.3_Missense_Mutation_p.R108S|BRWD1_ENST00000380800.3_Missense_Mutation_p.R108S|BRWD1_ENST00000341322.4_Missense_Mutation_p.R108S	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	108					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCAAAGACTGCCTTCCTGCAC	0.373																																					Melanoma(170;988 1986 4794 16843 39731)											0			21											115	124	121					21																	40670383		2203	4300	6503	39592253	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.324G>C	21.37:g.40670383C>G	ENSP00000330753:p.Arg108Ser		39592253	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540067	0.65085	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.55	3.73	0.42828	.	0.068493	0.64402	D	0.000012	T	0.52517	0.1739	L	0.46947	1.48	0.45056	D	0.998073	P;D;D	0.89917	0.873;1.0;0.993	B;D;P	0.74348	0.436;0.983;0.84	T	0.52305	-0.8593	10	0.56958	D	0.05	-10.9142	8.7993	0.34898	0.0:0.7119:0.0:0.2881	.	108;108;108	Q6P2D1;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	S	108	ENSP00000330753:R108S;ENSP00000344333:R108S;ENSP00000370178:R108S;ENSP00000342106:R108S	ENSP00000330753:R108S	R	-	3	2	BRWD1	39592253	0.895000	0.30542	1.000000	0.80357	0.997000	0.91878	0.010000	0.13242	1.359000	0.45940	0.467000	0.42956	AGG		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		G	40670383	C	G	40670383	3	3	417	1	0	0	0	0	1	0	0	0	1525	738	26	3	7043	3	BRWD1	21	40670383	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09		40670383	7459512	79	22862											
AP1B1	162	genome.wustl.edu	37	22	29735018	29735018	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr22:29735018G>A	ENST00000405198.1	-	15	2155	c.2124C>T	c.(2122-2124)ggC>ggT	p.G708G	AP1B1_ENST00000432560.2_Silent_p.G701G|AP1B1_ENST00000415447.1_Silent_p.G701G|AP1B1_ENST00000317368.7_Silent_p.G701G|AP1B1_ENST00000356015.2_Silent_p.G701G|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Silent_p.G701G|AP1B1_ENST00000357586.2_Silent_p.G708G			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	708	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGTGCCCACGCCACTGGTCA	0.572																																																0			22											143	144	144					22																	29735018		2203	4300	6503	28065018	SO:0001819	synonymous_variant	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2124C>T	22.37:g.29735018G>A			28065018	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	CCDS13855.1																																																																																				0.572	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		A	29735018	G	A	29735018	2	1	417	1	0	0	0	0	0	0	0	1	731	1074	38	1		1	AP1B1	22	29735018	Silent	SNP	G	TCGA-59-2372-01A-01D-1526-09		29735018	21569548	80	22863											
DDX17	11015	genome.wustl.edu	37	22	38881982	38881982	+	IGR	SNP	T	T	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr22:38881982T>C	ENST00000216014.4	+	0	1728				DDX17_ENST00000444597.1_Silent_p.Q168Q|DDX17_ENST00000381633.3_Silent_p.Q639Q|DDX17_ENST00000396821.3_Silent_p.Q718Q	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					gaggaggGTATTGGTAGGCAG	0.517																																					Ovarian(11;103 529 24120 28493 32980)											0			22											164	148	154					22																	38881982		2203	4300	6503	37211928	SO:0001628	intergenic_variant	10521			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881982T>C			37211928	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	T	7.313	0.615371	0.14129	.	.	ENSG00000100201	ENST00000404499	.	.	.	5.42	-7.84	0.01196	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0852	0.81042	0.0909:0.7396:0.0:0.1695	.	.	.	.	.	-1	.	.	.	-	.	.	DDX17	37211928	0.002000	0.14202	0.819000	0.32651	0.960000	0.62799	-1.402000	0.02499	-1.339000	0.02230	-0.994000	0.02522	.		0.517	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			C	38881982	T	C	38881982	1	2	417	0	1	0	0	0	0	0	0	0	4344	1490	52	4		4	DDX17	22	38881982	IGR	SNP	T	TCGA-59-2372-01A-01D-1526-09	9146964	38881982	12422584	81	22864											
CLCN5	1184	genome.wustl.edu	37	X	49851437	49851437	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chrX:49851437G>A	ENST00000307367.2	+	8	1548	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	CLCN5_ENST00000376091.3_Silent_p.P489P|CLCN5_ENST00000376108.3_Silent_p.P419P|CLCN5_ENST00000376088.3_Silent_p.P489P			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	419					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTGACAGACCGGCTGGCGTGG	0.473																																																0			X											80	73	75					X																	49851437		2203	4300	6503	49738177	SO:0001819	synonymous_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1257G>A	X.37:g.49851437G>A			49738177	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																				0.473	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			A	49851437	G	A	49851437	2	1	417	1	0	0	0	0	0	0	0	1	3466	1103	39	1		1	CLCN5	23	49851437	Silent	SNP	G	TCGA-59-2372-01A-01D-1526-09		49851437	105419123	82	22865											
MST4	51765	genome.wustl.edu	37	X	131188771	131188771	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chrX:131188771T>G	ENST00000354719.6	+	3	371	c.155T>G	c.(154-156)aTt>aGt	p.I52S	MST4_ENST00000394334.2_Missense_Mutation_p.I52S|MST4_ENST00000394335.2_Intron|MST4_ENST00000496850.1_Missense_Mutation_p.I52S|MST4_ENST00000481105.1_Missense_Mutation_p.I52S																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTCGTTGCTATTAAAATCATA	0.388																																																0			X											81	75	77					X																	131188771		2203	4300	6503	131016452	SO:0001583	missense	51765																														ENST00000354719.6:c.155T>G	X.37:g.131188771T>G	ENSP00000346755:p.Ile52Ser		131016452		Missense_Mutation	SNP	ENST00000354719.6	37		.	.	.	.	.	.	.	.	.	.	T	23.7	4.449332	0.84101	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000496850	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.3	5.3	0.74995	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	0.64402	D	0.000003	T	0.59662	0.2210	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.999	D;D;D;D	0.77557	0.979;0.99;0.989;0.99	T	0.67078	-0.5761	10	0.87932	D	0	.	14.2816	0.66216	0.0:0.0:0.0:1.0	.	52;52;52;52	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289	.;.;.;MST4_HUMAN	S	52	ENSP00000377867:I52S;ENSP00000418753:I52S;ENSP00000346755:I52S;ENSP00000419702:I52S	ENSP00000346755:I52S	I	+	2	0	AL109749.1	131016452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	1.949000	0.56562	0.481000	0.45027	ATT		0.388	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			G	131188771	T	G	131188771	3	3	417	1	0	0	0	0	1	0	0	0	9892	1493	52	5	161	5	MST4	23	131188771	Missense_Mutation	SNP	T	TCGA-59-2372-01A-01D-1526-09	81337334	131188771	24081789	83	22866											
OPN1LW	5956	genome.wustl.edu	37	X	153418474	153418474	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chrX:153418474G>C	ENST00000369951.4	+	3	531	c.471G>C	c.(469-471)aaG>aaC	p.K157N	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	157					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGTGCAAGCCCTTTGGCA	0.562																																																0			X											253	173	202					X																	153418474		2153	3906	6059	153071668	SO:0001583	missense	5956			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.471G>C	X.37:g.153418474G>C	ENSP00000358967:p.Lys157Asn		153071668		Missense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287383	0.59976	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.37752	1.18;1.18	4.57	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	M	0.92367	3.3	0.54753	D	0.999989	P	0.41546	0.754	B	0.44163	0.443	T	0.44329	-0.9335	10	0.87932	D	0	.	3.4156	0.07375	0.4086:0.196:0.3954:0.0	.	157	P04000	OPSR_HUMAN	N	157;20	ENSP00000358967:K157N;ENSP00000402493:K20N	ENSP00000358967:K157N	K	+	3	2	OPN1LW	153071668	0.712000	0.27916	1.000000	0.80357	0.969000	0.65631	-0.052000	0.11865	0.295000	0.22570	0.432000	0.28606	AAG		0.562	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		C	153418474	G	C	153418474	3	2	417	1	0	0	0	0	1	0	0	0	10877	962	34	3	481	3	OPN1LW	23	153418474	Missense_Mutation	SNP	G	TCGA-59-2372-01A-01D-1526-09	22229703	153418474	1852086	84	22867											
CTAG2	30848	genome.wustl.edu	37	X	153881764	153881764	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chrX:153881764C>T	ENST00000247306.4	-	1	89	c.26G>A	c.(25-27)gGg>gAg	p.G9E	CTAG2_ENST00000369585.3_Missense_Mutation_p.G9E	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	9	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTCGAACCCCCTGTGCCCTG	0.711																																																0			X											5	11	10					X																	153881764		1044	3580	4624	153534958	SO:0001583	missense	30848			AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.26G>A	X.37:g.153881764C>T	ENSP00000247306:p.Gly9Glu		153534958	O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	c	9.266	1.044566	0.19748	.	.	ENSG00000126890	ENST00000247306;ENST00000369585	T;T	0.37235	1.21;1.35	2.31	-2.48	0.06423	.	.	.	.	.	T	0.32346	0.0826	N	0.19112	0.55	0.09310	N	1	D;D	0.71674	0.985;0.998	P;D	0.63703	0.827;0.917	T	0.16453	-1.0402	9	0.62326	D	0.03	.	1.576	0.02624	0.3295:0.3672:0.1792:0.1241	.	9;9	O75638;O75638-2	CTAG2_HUMAN;.	E	9	ENSP00000247306:G9E;ENSP00000358598:G9E	ENSP00000247306:G9E	G	-	2	0	CTAG2	153534958	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.541000	0.06099	-0.842000	0.04195	-0.510000	0.04470	GGG		0.711	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		T	153881764	C	T	153881764	3	4	417	1	0	0	0	0	1	0	0	0	3991	623	22	2	753	2	CTAG2	23	153881764	Missense_Mutation	SNP	C	TCGA-59-2372-01A-01D-1526-09	463290	153881764	1388796	85	22868											
F5	2153	genome.wustl.edu	37	1	169511850	169511850	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:169511850C>G	ENST00000367797.3	-	13	2679	c.2478G>C	c.(2476-2478)gaG>gaC	p.E826D	F5_ENST00000367796.3_Missense_Mutation_p.E831D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	826	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGCTGGAATGCTCTGCTGTGG	0.488																																																0			1											169	166	167					1																	169511850		2203	4300	6503	167778474	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2478G>C	1.37:g.169511850C>G	ENSP00000356771:p.Glu826Asp		167778474	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277713	0.40294	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.24538	1.85;1.85	5.97	0.701	0.18104	.	0.890844	0.09747	N	0.761179	T	0.06371	0.0164	L	0.39898	1.24	0.20403	N	0.999908	P	0.47106	0.89	B	0.38378	0.272	T	0.25641	-1.0126	9	0.33141	T	0.24	-4.8519	4.8247	0.13410	0.1399:0.5487:0.0:0.3114	.	826	P12259	FA5_HUMAN	D	826;831	ENSP00000356771:E826D;ENSP00000356770:E831D	ENSP00000356770:E831D	E	-	3	2	F5	167778474	0.000000	0.05858	0.003000	0.11579	0.113000	0.19764	-0.789000	0.04609	-0.114000	0.11936	-0.966000	0.02617	GAG		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		G	169511850	C	G	169511850	3	3	418	1	0	0	0	0	1	0	0	0	5348	796	28	3	4248	3	F5	1	169511850	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09		169511850	79738771	1	22869											
PARP1	142	genome.wustl.edu	37	1	226551747	226551747	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:226551747T>C	ENST00000366794.5	-	20	2826	c.2683A>G	c.(2683-2685)Atc>Gtc	p.I895V	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	895	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCGAAATAGATCCCTTTACCA	0.483								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								0			1											123	113	117					1																	226551747		2203	4300	6503	224618370	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2683A>G	1.37:g.226551747T>C	ENSP00000355759:p.Ile895Val		224618370	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.008317	0.54361	.	.	ENSG00000143799	ENST00000366794	T	0.13901	2.55	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.045054	0.85682	D	0.000000	T	0.14184	0.0343	N	0.20357	0.565	0.80722	D	1	B	0.20550	0.046	B	0.35278	0.199	T	0.19257	-1.0311	10	0.32370	T	0.25	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	895	P09874	PARP1_HUMAN	V	895	ENSP00000355759:I895V	ENSP00000355759:I895V	I	-	1	0	PARP1	224618370	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.017000	0.49615	2.371000	0.80710	0.533000	0.62120	ATC		0.483	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		C	226551747	T	C	226551747	3	2	418	1	0	0	0	0	1	0	0	0	11454	1435	50	4	377	4	PARP1	1	226551747	Missense_Mutation	SNP	T	TCGA-61-1722-01A-01D-1556-09	57039897	226551747	22698874	2	22870											
CHRM3	1131	genome.wustl.edu	37	1	240071260	240071260	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:240071260T>A	ENST00000255380.4	+	5	1288	c.509T>A	c.(508-510)aTc>aAc	p.I170N		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	170					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TACTTTTCCATCACGAGGCCG	0.527																																																0			1											118	120	119					1																	240071260		2203	4300	6503	238137883	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.509T>A	1.37:g.240071260T>A	ENSP00000255380:p.Ile170Asn		238137883	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152528	0.78001	.	.	ENSG00000133019	ENST00000255380	D	0.82167	-1.58	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.165060	0.52532	D	0.000066	D	0.93615	0.7961	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95195	0.8311	10	0.87932	D	0	-30.4869	16.3322	0.83039	0.0:0.0:0.0:1.0	.	170	P20309	ACM3_HUMAN	N	170	ENSP00000255380:I170N	ENSP00000255380:I170N	I	+	2	0	CHRM3	238137883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.251000	0.74343	0.528000	0.53228	ATC		0.527	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		A	240071260	T	A	240071260	3	1	418	1	0	0	0	0	1	0	0	0	3378	1435	50	5	511	5	CHRM3	1	240071260	Missense_Mutation	SNP	T	TCGA-61-1722-01A-01D-1556-09	13519513	240071260	9179361	3	22871											
WDR64	128025	genome.wustl.edu	37	1	241904878	241904878	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:241904878C>G	ENST00000366552.2	+	11	1559	c.1352C>G	c.(1351-1353)cCt>cGt	p.P451R	WDR64_ENST00000437684.2_Missense_Mutation_p.P451R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	451										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AAACAGGTTCCTCACACTCAT	0.343																																																0			1											141	129	133					1																	241904878		2203	4300	6503	239971501	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1352C>G	1.37:g.241904878C>G	ENSP00000355510:p.Pro451Arg		239971501	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.	.	.	.	.	.	.	.	.	.	C	19.60	3.858726	0.71834	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.42513	1.01;0.97;1.01	5.49	5.49	0.81192	.	0.103230	0.42964	D	0.000631	T	0.59932	0.2230	L	0.57536	1.79	0.41720	D	0.989506	D	0.89917	1.0	D	0.85130	0.997	T	0.53676	-0.8405	10	0.25106	T	0.35	-11.284	16.2874	0.82727	0.0:1.0:0.0:0.0	.	171	D1MPS4	.	R	451;451;222	ENSP00000355510:P451R;ENSP00000402446:P451R;ENSP00000406656:P222R	ENSP00000355510:P451R	P	+	2	0	WDR64	239971501	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.670000	0.61583	2.584000	0.87258	0.655000	0.94253	CCT		0.343	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		G	241904878	C	G	241904878	3	3	418	1	0	0	0	0	1	0	0	0	17315	681	24	3	1394	3	WDR64	1	241904878	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	1833618	241904878	7345743	4	22872											
AHCTF1	25909	genome.wustl.edu	37	1	247039486	247039486	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:247039486C>G	ENST00000391829.2	-	24	3064	c.2941G>C	c.(2941-2943)Gat>Cat	p.D981H	AHCTF1_ENST00000326225.3_Missense_Mutation_p.D990H|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.D1016H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	981	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGATCACGATCATTCTATTAA	0.318																																					Colon(145;197 1800 4745 15099 26333)											0			1											29	29	29					1																	247039486		2202	4300	6502	245106109	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2941G>C	1.37:g.247039486C>G	ENSP00000375705:p.Asp981His		245106109	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.579045	0.86645	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34859	1.34;1.34;1.34	5.23	5.23	0.72850	.	0.052321	0.85682	D	0.000000	T	0.56202	0.1969	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.63192	0.912;0.751	T	0.56938	-0.7896	10	0.59425	D	0.04	-27.7221	19.186	0.93644	0.0:1.0:0.0:0.0	.	1016;981	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	H	1016;990;981	ENSP00000355464:D1016H;ENSP00000355465:D990H;ENSP00000375705:D981H	ENSP00000355465:D990H	D	-	1	0	AHCTF1	245106109	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.311000	0.65786	2.601000	0.87937	0.585000	0.79938	GAT		0.318	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		G	247039486	C	G	247039486	3	3	418	1	0	0	0	0	1	0	0	0	408	826	29	3	3911	3	AHCTF1	1	247039486	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	5134608	247039486	2211135	5	22873											
DDX1	1653	genome.wustl.edu	37	2	15753380	15753380	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr2:15753380G>A	ENST00000381341.2	+	15	1378	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	DDX1_ENST00000233084.3_Missense_Mutation_p.R330Q			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	330	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GTTGCAGCCCGGGATCAGCTC	0.323																																																0			2											70	76	74					2																	15753380		2201	4300	6501	15670831	SO:0001583	missense	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.989G>A	2.37:g.15753380G>A	ENSP00000370745:p.Arg330Gln		15670831	B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816795	0.50633	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.16457	2.34;2.34	5.92	5.05	0.67936	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.048996	0.85682	D	0.000000	T	0.08670	0.0215	N	0.10809	0.05	0.43364	D	0.995444	P	0.35107	0.484	B	0.31390	0.129	T	0.35798	-0.9774	10	0.23891	T	0.37	-17.7898	11.0885	0.48102	0.1404:0.0:0.8596:0.0	.	330	Q92499	DDX1_HUMAN	Q	330;330;314	ENSP00000370745:R330Q;ENSP00000233084:R330Q	ENSP00000233084:R330Q	R	+	2	0	DDX1	15670831	1.000000	0.71417	0.983000	0.44433	0.852000	0.48524	6.238000	0.72350	1.521000	0.48983	-0.225000	0.12378	CGG		0.323	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		A	15753380	G	A	15753380	3	1	418	1	0	0	0	0	1	0	0	0	4341	1116	39	1	1043	1	DDX1	2	15753380	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09		15753380	227445993	6	22874											
TTN	7273	genome.wustl.edu	37	2	179647128	179647128	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr2:179647128A>T	ENST00000591111.1	-	20	3415	c.3191T>A	c.(3190-3192)aTg>aAg	p.M1064K	TTN_ENST00000342175.6_Missense_Mutation_p.M1018K|TTN_ENST00000589042.1_Missense_Mutation_p.M1064K|TTN_ENST00000359218.5_Missense_Mutation_p.M1018K|TTN_ENST00000342992.6_Missense_Mutation_p.M1064K|TTN_ENST00000360870.5_Missense_Mutation_p.M1064K|TTN_ENST00000460472.2_Missense_Mutation_p.M1018K|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	32606					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATCAGTCATAACCACATC	0.478																																																0			2											48	52	51					2																	179647128		2203	4300	6503	179355373	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3191T>A	2.37:g.179647128A>T	ENSP00000465570:p.Met1064Lys		179355373	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	14.61	2.587549	0.46110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62639	0.01;0.23;0.23;0.21;0.38	5.6	5.6	0.85130	Ribonuclease H-like (1);	.	.	.	.	T	0.57902	0.2085	L	0.29908	0.895	0.33127	D	0.542586	P;P;P;D;P	0.54601	0.828;0.828;0.828;0.967;0.731	B;B;B;P;B	0.47206	0.3;0.3;0.3;0.541;0.326	T	0.71185	-0.4667	9	0.87932	D	0	.	14.6521	0.68805	1.0:0.0:0.0:0.0	.	1018;1018;1018;1064;1064	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1064;1018;1018;1018;1018;1064	ENSP00000343764:M1064K;ENSP00000434586:M1018K;ENSP00000340554:M1018K;ENSP00000352154:M1018K;ENSP00000354117:M1064K	ENSP00000340554:M1018K	M	-	2	0	TTN	179355373	1.000000	0.71417	0.982000	0.44146	0.899000	0.52679	6.021000	0.70832	2.266000	0.75297	0.528000	0.53228	ATG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179647128	A	T	179647128	3	4	418	1	0	0	0	0	1	0	0	0	16735	217	8	5	108169	5	TTN	2	179647128	Missense_Mutation	SNP	A	TCGA-61-1722-01A-01D-1556-09	163893748	179647128	63552245	7	22875											
ANKMY1	51281	genome.wustl.edu	37	2	241448853	241448853	+	Missense_Mutation	SNP	C	C	T	rs570625017		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr2:241448853C>T	ENST00000272972.3	-	11	2253	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q	ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.R680Q|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R769Q|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R450Q|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R441Q	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	680							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TAGAAGGAGCCGGACTATGTC	0.547																																																0			2											57	53	55					2																	241448853		2203	4300	6503	241097526	SO:0001583	missense	51281			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2039G>A	2.37:g.241448853C>T	ENSP00000272972:p.Arg680Gln		241097526	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	c	4.292	0.053333	0.08291	.	.	ENSG00000144504	ENST00000406958;ENST00000272972;ENST00000391987;ENST00000373320;ENST00000401804	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	3.74	-0.929	0.10444	Ankyrin repeat-containing domain (4);	0.699166	0.13274	N	0.400275	T	0.40694	0.1127	N	0.25957	0.775	0.09310	N	1	B;P;B	0.42456	0.084;0.78;0.084	B;B;B	0.32393	0.012;0.145;0.012	T	0.13415	-1.0510	10	0.54805	T	0.06	-7.0879	9.4485	0.38712	0.0:0.6763:0.0:0.3237	.	680;441;680	Q4ZFV3;B5MBY4;Q9P2S6	.;.;ANKY1_HUMAN	Q	441;680;680;450;769	ENSP00000384555:R441Q;ENSP00000272972:R680Q;ENSP00000375847:R680Q;ENSP00000362417:R450Q;ENSP00000385887:R769Q	ENSP00000272972:R680Q	R	-	2	0	ANKMY1	241097526	0.153000	0.22777	0.166000	0.22797	0.267000	0.26476	-0.531000	0.06171	-0.980000	0.03524	-0.771000	0.03389	CGG		0.547	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		T	241448853	C	T	241448853	3	4	418	1	0	0	0	0	1	0	0	0	634	652	23	1	814	1	ANKMY1	2	241448853	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	61801725	241448853	1750520	8	22876											
TTLL3	26140	genome.wustl.edu	37	3	9876893	9876893	+	Nonsense_Mutation	SNP	C	C	A	rs183827868		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:9876893C>A	ENST00000547186.1	+	13	2255	c.2039C>A	c.(2038-2040)tCa>tAa	p.S680*	TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000455274.1_Intron|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000426895.4_Nonsense_Mutation_p.S823*|TTLL3_ENST00000383827.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	680					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAGGCAAATTCAAGGCCAGAC	0.592																																																0			3											67	73	71					3																	9876893		2002	4170	6172	9851893	SO:0001587	stop_gained	26140				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.2039C>A	3.37:g.9876893C>A	ENSP00000446659:p.Ser680*		9851893	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Nonsense_Mutation	SNP	ENST00000547186.1	37		.	.	.	.	.	.	.	.	.	.	C	19.12	3.765221	0.69878	.	.	ENSG00000214021	ENST00000426895;ENST00000547186	.	.	.	3.55	1.62	0.23740	.	7.009170	0.02063	U	0.050975	.	.	.	.	.	.	0.48087	D	0.999588	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	9.4467	0.38701	0.0:0.5718:0.4282:0.0	.	.	.	.	X	823;680	.	ENSP00000392549:S823X	S	+	2	0	TTLL3	9851893	0.633000	0.27181	0.691000	0.30163	0.599000	0.36880	0.207000	0.17395	0.439000	0.26476	0.561000	0.74099	TCA		0.592	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		A	9876893	C	A	9876893	4	1	418	1	0	0	0	0	0	1	0	0	16728	838	29	3	2085	3	TTLL3	3	9876893	Nonsense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09		9876893	188145537	9	22877											
PRRT3	285368	genome.wustl.edu	37	3	9990552	9990552	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:9990552A>G	ENST00000412055.1	-	3	1190	c.1061T>C	c.(1060-1062)gTg>gCg	p.V354A	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.V354A	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	354	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AGCTCCTCTCACCCGCTGGGG	0.597																																																0			3											60	66	64					3																	9990552		1929	4136	6065	9965552	SO:0001583	missense	285368			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1061T>C	3.37:g.9990552A>G	ENSP00000392511:p.Val354Ala		9965552	Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153761	0.78114	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.29917	1.81;1.55	5.17	5.17	0.71159	.	0.118006	0.34133	N	0.004221	T	0.41811	0.1175	L	0.36672	1.1	0.31566	N	0.656907	D;D	0.71674	0.998;0.998	D;D	0.68765	0.96;0.934	T	0.46034	-0.9220	9	.	.	.	-24.4515	11.4013	0.49873	1.0:0.0:0.0:0.0	.	354;354	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	A	354	ENSP00000392511:V354A;ENSP00000404512:V354A	.	V	-	2	0	PRRT3	9965552	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.650000	0.61440	1.946000	0.56461	0.533000	0.62120	GTG		0.597	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		G	9990552	A	G	9990552	3	3	418	1	0	0	0	0	1	0	0	0	12614	159	6	4	1892	4	PRRT3	3	9990552	Missense_Mutation	SNP	A	TCGA-61-1722-01A-01D-1556-09	113659	9990552	188031878	10	22878											
ROPN1	54763	genome.wustl.edu	37	3	123695816	123695816	+	Silent	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:123695816G>C	ENST00000184183.4	-	4	469	c.129C>G	c.(127-129)gcC>gcG	p.A43A	ROPN1_ENST00000405845.3_Silent_p.A43A	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	43	RIIa.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		CACGGGACAGGGCCTCAAAAT	0.517																																																0			3											40	46	44					3																	123695816		2203	4296	6499	125178506	SO:0001819	synonymous_variant	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"cancer/testis antigen 91"	611757	"ropporin, rhophilin associated protein 1"			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.129C>G	3.37:g.123695816G>C			125178506	D3DN99|Q9UF38	Silent	SNP	ENST00000184183.4	37	CCDS3026.1																																																																																				0.517	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		C	123695816	G	C	123695816	2	2	418	1	0	0	0	0	0	0	0	1	13526	1219	43	3		3	ROPN1	3	123695816	Silent	SNP	G	TCGA-61-1722-01A-01D-1556-09	113705264	123695816	74326614	11	22879											
TNIK	23043	genome.wustl.edu	37	3	170805169	170805169	+	Missense_Mutation	SNP	C	C	T	rs201681163		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:170805169C>T	ENST00000436636.2	-	24	3192	c.2848G>A	c.(2848-2850)Gtc>Atc	p.V950I	TNIK_ENST00000460047.1_Missense_Mutation_p.V887I|TNIK_ENST00000488470.1_Missense_Mutation_p.V895I|TNIK_ENST00000284483.8_Missense_Mutation_p.V942I|TNIK_ENST00000470834.1_Missense_Mutation_p.V913I|TNIK_ENST00000538048.1_Missense_Mutation_p.V902I|TNIK_ENST00000369326.5_Missense_Mutation_p.V928I|TNIK_ENST00000475336.1_Missense_Mutation_p.V858I|TNIK_ENST00000357327.5_Missense_Mutation_p.V921I|TNIK_ENST00000341852.6_Missense_Mutation_p.V866I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	950	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGGGTTGAGACGCGCCCCAGT	0.572																																																0			3											75	78	77					3																	170805169		2013	4181	6194	172287863	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2848G>A	3.37:g.170805169C>T	ENSP00000399511:p.Val950Ile		172287863	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162146	0.38217	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.65;-0.64;-0.66;-0.66;-0.66;-0.66;-0.66;-0.65;-0.66	5.93	4.16	0.48862	.	0.474184	0.20697	N	0.087341	T	0.54854	0.1884	N	0.22421	0.69	0.33475	D	0.586747	B;P;B;B;P;P;B;P	0.44195	0.001;0.828;0.001;0.001;0.828;0.828;0.001;0.736	B;B;B;B;B;B;B;B	0.41440	0.003;0.357;0.003;0.003;0.357;0.357;0.003;0.195	T	0.58983	-0.7539	10	0.11182	T	0.66	.	12.3977	0.55395	0.0:0.8654:0.0:0.1346	.	858;913;887;866;942;921;895;950	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	950;928;902;866;942;858;921;887;895;913	ENSP00000399511:V950I;ENSP00000358332:V928I;ENSP00000443278:V902I;ENSP00000345352:V866I;ENSP00000284483:V942I;ENSP00000418156:V858I;ENSP00000349880:V921I;ENSP00000418916:V887I;ENSP00000418378:V895I;ENSP00000419990:V913I	ENSP00000284483:V942I	V	-	1	0	TNIK	172287863	0.999000	0.42202	0.449000	0.26957	0.753000	0.42808	3.411000	0.52672	0.863000	0.35553	0.655000	0.94253	GTC		0.572	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		T	170805169	C	T	170805169	3	4	418	1	0	0	0	0	1	0	0	0	16313	536	19	1	1274	1	TNIK	3	170805169	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	47109353	170805169	27217261	12	22880											
SDAD1	55153	genome.wustl.edu	37	4	76878772	76878772	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr4:76878772G>T	ENST00000356260.5	-	19	1786	c.1668C>A	c.(1666-1668)ttC>ttA	p.F556L	SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Missense_Mutation_p.F519L	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	556					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGATTTTCTGGAAGTCTTCCT	0.493																																																0			4											112	113	113					4																	76878772		2203	4300	6503	77097796	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1668C>A	4.37:g.76878772G>T	ENSP00000348596:p.Phe556Leu		77097796	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358675	0.61403	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.28666	1.6;1.6	5.15	5.15	0.70609	SDA1 (1);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.69358	2.11	0.80722	D	1	P;P	0.42620	0.673;0.785	B;B	0.42522	0.39;0.39	T	0.10042	-1.0647	10	0.18710	T	0.47	-5.9617	16.483	0.84163	0.0:0.0:1.0:0.0	.	519;556	E7EW05;Q9NVU7	.;SDA1_HUMAN	L	556;519	ENSP00000348596:F556L;ENSP00000379061:F519L	ENSP00000348596:F556L	F	-	3	2	SDAD1	77097796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.276000	0.58933	2.581000	0.87130	0.650000	0.86243	TTC		0.493	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		T	76878772	G	T	76878772	3	4	418	1	0	0	0	0	1	0	0	0	13953	1165	41	3	411	3	SDAD1	4	76878772	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09		76878772	114275504	13	22881											
SEC31A	22872	genome.wustl.edu	37	4	83776077	83776077	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr4:83776077C>T	ENST00000395310.2	-	17	2169	c.1987G>A	c.(1987-1989)Gat>Aat	p.D663N	SEC31A_ENST00000326950.5_Missense_Mutation_p.D624N|SEC31A_ENST00000311785.7_Missense_Mutation_p.D663N|SEC31A_ENST00000348405.4_Missense_Mutation_p.D624N|SEC31A_ENST00000500777.2_Missense_Mutation_p.D624N|SEC31A_ENST00000443462.2_Missense_Mutation_p.D658N|SEC31A_ENST00000432794.1_Missense_Mutation_p.D663N|SEC31A_ENST00000448323.1_Missense_Mutation_p.D663N|SEC31A_ENST00000264405.5_Missense_Mutation_p.D396N|SEC31A_ENST00000508502.1_Missense_Mutation_p.D663N|SEC31A_ENST00000513858.1_Missense_Mutation_p.D624N|SEC31A_ENST00000508479.1_Missense_Mutation_p.D663N|SEC31A_ENST00000509142.1_Missense_Mutation_p.D663N|SEC31A_ENST00000505984.1_Missense_Mutation_p.D624N|SEC31A_ENST00000355196.2_Missense_Mutation_p.D663N|SEC31A_ENST00000505472.1_Missense_Mutation_p.D663N	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	663					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAAATTCATCCGGCTTTGCA	0.363																																																0			4											81	79	80					4																	83776077		2203	4300	6503	83995101	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1987G>A	4.37:g.83776077C>T	ENSP00000378721:p.Asp663Asn		83995101	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.06|13.06	2.123530|2.123530	0.37436|0.37436	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828;ENST00000512664	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.39056|.	1.3;1.16;2.35;2.34;1.21;2.24;2.35;1.3;1.21;1.1;1.16;2.34;2.35;3.16;2.3;2.22;2.25|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.048224|.	0.85682|.	D|.	0.000000|.	T|T	0.59169|0.59169	0.2174|0.2174	L|L	0.31476|0.31476	0.935|0.935	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B;B;B;B;B;B;B|.	0.19200|.	0.001;0.001;0.001;0.004;0.001;0.007;0.034;0.001;0.005|.	B;B;B;B;B;B;B;B;B|.	0.15484|.	0.012;0.004;0.009;0.011;0.002;0.011;0.013;0.007;0.012|.	T|T	0.52939|0.52939	-0.8508|-0.8508	10|5	0.87932|.	D|.	0|.	-18.1355|-18.1355	19.4176|19.4176	0.94708|0.94708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	658;624;663;624;624;663;663;663;396|.	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7|.	.;.;.;.;.;.;.;SC31A_HUMAN;.|.	N|E	624;624;663;658;663;663;663;624;663;663;624;663;663;396;624;663;251|279;177	ENSP00000337602:D624N;ENSP00000426886:D624N;ENSP00000378721:D663N;ENSP00000408027:D658N;ENSP00000426569:D663N;ENSP00000407944:D663N;ENSP00000400926:D663N;ENSP00000325087:D624N;ENSP00000309070:D663N;ENSP00000421633:D663N;ENSP00000421464:D624N;ENSP00000424635:D663N;ENSP00000347329:D663N;ENSP00000264405:D396N;ENSP00000424451:D624N;ENSP00000425999:D663N;ENSP00000422267:D251N|.	ENSP00000264405:D396N|.	D|G	-|-	1|2	0|0	SEC31A|SEC31A	83995101|83995101	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.012000|0.012000	0.07955|0.07955	4.893000|4.893000	0.63199|0.63199	2.596000|2.596000	0.87737|0.87737	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.363	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		T	83776077	C	T	83776077	3	4	418	1	0	0	0	0	1	0	0	0	14001	855	30	2	1719	2	SEC31A	4	83776077	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	6897305	83776077	107378199	14	22882											
ADCY2	108	genome.wustl.edu	37	5	7695868	7695868	+	Silent	SNP	C	C	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr5:7695868C>A	ENST00000338316.4	+	6	962	c.873C>A	c.(871-873)atC>atA	p.I291I	ADCY2_ENST00000537121.1_Silent_p.I111I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	291					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCCACAGCATCTTATACGCTG	0.398																																																0			5											87	77	80					5																	7695868		2203	4300	6503	7748868	SO:0001819	synonymous_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.873C>A	5.37:g.7695868C>A			7748868	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																				0.398	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7695868	C	A	7695868	2	1	418	1	0	0	0	0	0	0	0	1	294	903	32	3		3	ADCY2	5	7695868	Silent	SNP	C	TCGA-61-1722-01A-01D-1556-09		7695868	173219392	15	22883											
TTC37	9652	genome.wustl.edu	37	5	94805498	94805498	+	Silent	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr5:94805498G>C	ENST00000358746.2	-	41	4780	c.4482C>G	c.(4480-4482)cgC>cgG	p.R1494R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1494						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCCCCATTTTGCGTTTGAATT	0.358																																																0			5											71	79	76					5																	94805498		2203	4300	6503	94831254	SO:0001819	synonymous_variant	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4482C>G	5.37:g.94805498G>C			94831254	O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	CCDS4072.1																																																																																				0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		C	94805498	G	C	94805498	2	2	418	1	0	0	0	0	0	0	0	1	16705	1306	46	3		3	TTC37	5	94805498	Silent	SNP	G	TCGA-61-1722-01A-01D-1556-09	87109630	94805498	86109762	16	22884											
LRRC16A	55604	genome.wustl.edu	37	6	25600652	25600652	+	Missense_Mutation	SNP	G	G	T	rs548340500		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:25600652G>T	ENST00000329474.6	+	33	3598	c.3230G>T	c.(3229-3231)cGg>cTg	p.R1077L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1077	Inhibits capping activity of CAPZA2. {ECO:0000250}.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCAAATCCCGGTCCAAATCC	0.483																																																0			6											68	67	68					6																	25600652		1862	4094	5956	25708631	SO:0001583	missense	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3230G>T	6.37:g.25600652G>T	ENSP00000331983:p.Arg1077Leu		25708631	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921604	0.73213	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.41065	1.01	5.2	5.2	0.72013	.	0.125087	0.53938	D	0.000047	T	0.36331	0.0963	M	0.67953	2.075	0.80722	D	1	P;D;D	0.59357	0.955;0.974;0.985	B;B;P	0.48425	0.373;0.373;0.577	T	0.27088	-1.0084	10	0.10902	T	0.67	-14.5296	18.7442	0.91787	0.0:0.0:1.0:0.0	.	1077;1077;1077	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	L	1077	ENSP00000331983:R1077L	ENSP00000331983:R1077L	R	+	2	0	LRRC16A	25708631	0.995000	0.38212	0.996000	0.52242	0.877000	0.50540	4.372000	0.59530	2.403000	0.81681	0.455000	0.32223	CGG		0.483	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		T	25600652	G	T	25600652	3	4	418	1	0	0	0	0	1	0	0	0	8971	1116	39	3	3360	3	LRRC16A	6	25600652	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09		25600652	145514415	17	22885											
ZNF184	7738	genome.wustl.edu	37	6	27419769	27419769	+	Silent	SNP	A	A	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:27419769A>C	ENST00000211936.6	-	6	1853	c.1569T>G	c.(1567-1569)acT>acG	p.T523T	ZNF184_ENST00000377419.1_Silent_p.T523T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTGAGTATGAGTTTTCTGAT	0.383																																																0			6											69	71	70					6																	27419769		2203	4299	6502	27527748	SO:0001819	synonymous_variant	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1569T>G	6.37:g.27419769A>C			27527748	B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	CCDS4624.1																																																																																				0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		C	27419769	A	C	27419769	2	2	418	1	0	0	0	0	0	0	0	1	17751	291	11	5		5	ZNF184	6	27419769	Silent	SNP	A	TCGA-61-1722-01A-01D-1556-09	1819117	27419769	143695298	18	22886											
HIST1H2BM	8342	genome.wustl.edu	37	6	27783192	27783192	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:27783192G>T	ENST00000359465.4	+	1	371	c.371G>T	c.(370-372)aGc>aTc	p.S124I	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	124					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)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						AAGTATACCAGCTCCAAGTGA	0.592																																																0			6											41	43	42					6																	27783192		2203	4300	6503	27891171	SO:0001583	missense	8342			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.371G>T	6.37:g.27783192G>T	ENSP00000352442:p.Ser124Ile		27891171	Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904225	0.52333	.	.	ENSG00000196374	ENST00000359465	T	0.25414	1.8	4.1	4.1	0.47936	Histone-fold (2);	0.000000	0.64402	U	0.000001	T	0.60637	0.2284	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76865	-0.2801	10	0.87932	D	0	.	15.8322	0.78764	0.0:0.0:1.0:0.0	.	124	Q99879	H2B1M_HUMAN	I	124	ENSP00000352442:S124I	ENSP00000352442:S124I	S	+	2	0	HIST1H2BM	27891171	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.129000	0.94430	2.273000	0.75805	0.563000	0.77884	AGC		0.592	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		T	27783192	G	T	27783192	3	4	418	1	0	0	0	0	1	0	0	0	7152	971	34	3	373	3	HIST1H2BM	6	27783192	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09	363423	27783192	143331875	19	22887											
SLC26A8	116369	genome.wustl.edu	37	6	35927347	35927347	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:35927347G>C	ENST00000490799.1	-	16	2106	c.1753C>G	c.(1753-1755)Ctt>Gtt	p.L585V	SLC26A8_ENST00000394602.2_Missense_Mutation_p.L480V|SLC26A8_ENST00000355574.2_Missense_Mutation_p.L585V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCTTTAAGAGGCACCTTT	0.438																																																0			6											93	95	94					6																	35927347		2203	4300	6503	36035325	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1753C>G	6.37:g.35927347G>C	ENSP00000417638:p.Leu585Val		36035325		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857418	0.17106	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95656	-3.41;-3.77;-3.41	5.36	4.48	0.54585	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.217590	0.32578	N	0.005911	D	0.89121	0.6625	L	0.39245	1.2	0.29080	N	0.882774	B;P;P	0.45474	0.235;0.513;0.859	B;B;P	0.45610	0.19;0.136;0.487	D	0.83404	0.0024	10	0.26408	T	0.33	.	11.4837	0.50342	0.0:0.0:0.8204:0.1796	.	585;480;167	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	585;480;585	ENSP00000417638:L585V;ENSP00000378100:L480V;ENSP00000347778:L585V	ENSP00000347778:L585V	L	-	1	0	SLC26A8	36035325	1.000000	0.71417	0.875000	0.34327	0.103000	0.19146	2.901000	0.48695	1.250000	0.43966	-0.324000	0.08512	CTT		0.438	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			C	35927347	G	C	35927347	3	2	418	1	0	0	0	0	1	0	0	0	14526	942	33	3	1179	3	SLC26A8	6	35927347	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09	8144155	35927347	135187720	20	22888											
RNF146	81847	genome.wustl.edu	37	6	127608348	127608348	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:127608348C>T	ENST00000368314.1	+	3	1014	c.590C>T	c.(589-591)tCt>tTt	p.S197F	RNF146_ENST00000608991.1_Missense_Mutation_p.S196F|RNF146_ENST00000610153.1_Missense_Mutation_p.S197F|RNF146_ENST00000309649.3_Missense_Mutation_p.S196F|RNF146_ENST00000356799.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	197					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AGAGAGAGCTCTGCTGACGGA	0.463																																																0			6											106	105	105					6																	127608348		2203	4300	6503	127650041	SO:0001583	missense	81847			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.590C>T	6.37:g.127608348C>T	ENSP00000357297:p.Ser197Phe		127650041	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744090	0.69418	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.26518	1.73;1.73;1.73	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.59436	1.845	0.54753	D	0.999986	D	0.60160	0.987	P	0.54460	0.753	T	0.06643	-1.0815	10	0.87932	D	0	-13.6937	20.3967	0.98985	0.0:1.0:0.0:0.0	.	197	Q9NTX7	RN146_HUMAN	F	197;196;196	ENSP00000357297:S197F;ENSP00000349253:S196F;ENSP00000309365:S196F	ENSP00000309365:S196F	S	+	2	0	RNF146	127650041	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.763000	0.68818	2.829000	0.97493	0.655000	0.94253	TCT		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		T	127608348	C	T	127608348	3	4	418	1	0	0	0	0	1	0	0	0	13451	913	32	2	589	2	RNF146	6	127608348	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	91681001	127608348	43506719	21	22889											
SERAC1	84947	genome.wustl.edu	37	6	158538832	158538832	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:158538832G>C	ENST00000367104.3	-	13	1461	c.1330C>G	c.(1330-1332)Cct>Gct	p.P444A	SERAC1_ENST00000367101.1_Missense_Mutation_p.P444A|SERAC1_ENST00000367102.2_Missense_Mutation_p.P444A	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	444					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CGGAGAGCAGGACAGTCTTTT	0.413																																																0			6											103	97	99					6																	158538832		2203	4300	6503	158458820	SO:0001583	missense	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1330C>G	6.37:g.158538832G>C	ENSP00000356071:p.Pro444Ala		158458820	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	.	29.6	5.023396	0.93462	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000435180;ENST00000367101	D;D;D;D	0.93811	-2.38;-3.29;-3.29;-2.38	5.7	5.7	0.88788	.	0.046101	0.85682	N	0.000000	D	0.96361	0.8813	M	0.82193	2.58	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.93219	0.6607	10	0.66056	D	0.02	-24.4417	19.8411	0.96685	0.0:0.0:1.0:0.0	.	444	Q96JX3	SRAC1_HUMAN	A	444;444;19;444	ENSP00000356069:P444A;ENSP00000356071:P444A;ENSP00000391168:P19A;ENSP00000356068:P444A	ENSP00000356068:P444A	P	-	1	0	SERAC1	158458820	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.224000	0.95209	-0.633000	0.05545	-0.250000	0.11733	CCT		0.413	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		C	158538832	G	C	158538832	3	2	418	1	0	0	0	0	1	0	0	0	14077	1174	41	3	654	3	SERAC1	6	158538832	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09	30930484	158538832	12576235	22	22890											
EZR	7430	genome.wustl.edu	37	6	159188344	159188344	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:159188344C>G	ENST00000367075.3	-	13	1713	c.1545G>C	c.(1543-1545)gaG>gaC	p.E515D	MIR3918_ENST00000581555.1_RNA|EZR_ENST00000392177.4_Missense_Mutation_p.E483D|EZR_ENST00000337147.7_Missense_Mutation_p.E515D	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	515	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGATGCGCTTCTCCTCATTGC	0.632			T	ROS1	NSCLC																																		Dom	yes		6	6q25.3	7430	ezrin		E	0			6											79	75	77					6																	159188344		2203	4300	6503	159108332	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1545G>C	6.37:g.159188344C>G	ENSP00000356042:p.Glu515Asp		159108332	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204182	0.58234	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.84944	-1.92;-1.92;-1.92	5.75	4.87	0.63330	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.045024	0.85682	D	0.000000	D	0.86360	0.5914	M	0.85859	2.78	0.58432	D	0.999997	B;B	0.33739	0.078;0.422	B;B	0.41666	0.192;0.363	D	0.88501	0.3082	10	0.87932	D	0	.	15.0512	0.71872	0.0:0.9311:0.0:0.0689	.	483;515	E7EQR4;P15311	.;EZRI_HUMAN	D	515;515;483	ENSP00000338934:E515D;ENSP00000356042:E515D;ENSP00000376016:E483D	ENSP00000338934:E515D	E	-	3	2	EZR	159108332	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.104000	0.50306	2.714000	0.92807	0.561000	0.74099	GAG		0.632	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		G	159188344	C	G	159188344	3	3	418	1	0	0	0	0	1	0	0	0	5335	912	32	3	223	3	EZR	6	159188344	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	649512	159188344	11926723	23	22891											
THBS2	7058	genome.wustl.edu	37	6	169623463	169623463	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:169623463T>C	ENST00000366787.3	-	19	3130	c.2881A>G	c.(2881-2883)Aac>Gac	p.N961D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	961	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATCTGGAAGTTCCTGAAGTCT	0.468																																					Esophageal Squamous(91;219 1934 18562 44706)											0			6											138	116	124					6																	169623463		2203	4300	6503	169365388	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2881A>G	6.37:g.169623463T>C	ENSP00000355751:p.Asn961Asp		169365388	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945282	0.53079	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.90676	-2.71	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.161948	0.28521	U	0.015052	T	0.72269	0.3439	N	0.12182	0.205	0.42899	D	0.994222	B	0.28324	0.207	B	0.31495	0.131	T	0.70963	-0.4729	10	0.16420	T	0.52	-62.7058	14.2292	0.65879	0.0:0.0:0.0:1.0	.	961	P35442	TSP2_HUMAN	D	961;219	ENSP00000355751:N961D	ENSP00000355751:N961D	N	-	1	0	THBS2	169365388	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.478000	0.81082	1.747000	0.51819	0.386000	0.25728	AAC		0.468	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		C	169623463	T	C	169623463	3	2	418	1	0	0	0	0	1	0	0	0	15854	1783	62	4	657	4	THBS2	6	169623463	Missense_Mutation	SNP	T	TCGA-61-1722-01A-01D-1556-09	10435119	169623463	1491604	24	22892											
SEMA3D	223117	genome.wustl.edu	37	7	84671582	84671582	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr7:84671582C>T	ENST00000284136.6	-	8	924	c.881G>A	c.(880-882)cGc>cAc	p.R294H	SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	294	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATCAGGCTGCGTTGTCCTCC	0.383																																					Ovarian(63;442 1191 17318 29975 31528)											0			7											270	245	254					7																	84671582		2203	4300	6503	84509518	SO:0001583	missense	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.881G>A	7.37:g.84671582C>T	ENSP00000284136:p.Arg294His		84509518	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419714	0.96111	.	.	ENSG00000153993	ENST00000284136	T	0.11930	2.73	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.088686	0.85682	D	0.000000	T	0.22898	0.0553	M	0.72576	2.205	0.80722	D	1	D	0.53885	0.963	B	0.42112	0.376	T	0.03139	-1.1068	10	0.87932	D	0	.	19.8309	0.96634	0.0:1.0:0.0:0.0	.	294	O95025	SEM3D_HUMAN	H	294	ENSP00000284136:R294H	ENSP00000284136:R294H	R	-	2	0	SEMA3D	84509518	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.684000	0.91462	0.650000	0.86243	CGC		0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		T	84671582	C	T	84671582	3	4	418	1	0	0	0	0	1	0	0	0	14030	768	27	1	1492	1	SEMA3D	7	84671582	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09		84671582	74467081	25	22893											
CUX1	1523	genome.wustl.edu	37	7	101844964	101844964	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr7:101844964C>A	ENST00000292535.7	+	18	2425	c.2387C>A	c.(2386-2388)cCc>cAc	p.P796H	CUX1_ENST00000550008.2_Missense_Mutation_p.P740H|CUX1_ENST00000546411.2_Missense_Mutation_p.P694H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P774H|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P638H|CUX1_ENST00000360264.3_Missense_Mutation_p.P807H	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	796					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGGCTGGACCCCCAGGGAGCA	0.677																																																0			7											20	25	23					7																	101844964		2198	4299	6497	101631684	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2387C>A	7.37:g.101844964C>A	ENSP00000292535:p.Pro796His		101631684	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801064	0.70567	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60672	0.19;0.2;0.19;0.17;0.17;0.19	5.44	2.32	0.28847	.	0.459085	0.23120	N	0.051703	T	0.45196	0.1330	N	0.22421	0.69	0.80722	D	1	P;P	0.42649	0.681;0.786	B;P	0.46339	0.215;0.513	T	0.37979	-0.9682	10	0.66056	D	0.02	-0.0769	6.0706	0.19887	0.0:0.474:0.0:0.526	.	796;807	P39880;P39880-3	CUX1_HUMAN;.	H	807;796;774;740;694;638	ENSP00000353401:P807H;ENSP00000292535:P796H;ENSP00000446630:P774H;ENSP00000447373:P740H;ENSP00000450125:P694H;ENSP00000451558:P638H	ENSP00000292535:P796H	P	+	2	0	CUX1	101631684	0.934000	0.31675	0.560000	0.28344	0.925000	0.55904	1.512000	0.35812	0.562000	0.29204	0.655000	0.94253	CCC		0.677	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		A	101844964	C	A	101844964	3	1	418	1	0	0	0	0	1	0	0	0	4064	623	22	3	2524	3	CUX1	7	101844964	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	17173382	101844964	57293699	26	22894											
CUX1	1523	genome.wustl.edu	37	7	101882770	101882770	+	Nonsense_Mutation	SNP	C	C	T	rs201599167		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr7:101882770C>T	ENST00000292535.7	+	23	3831	c.3793C>T	c.(3793-3795)Caa>Taa	p.Q1265*	CUX1_ENST00000550008.2_Nonsense_Mutation_p.Q1209*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.Q1163*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.Q1243*|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|AC005088.1_ENST00000580604.1_RNA|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.Q1107*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.Q1276*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1265					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCGTATCAGCAAAAGCCATA	0.592																																																0			7											118	114	115					7																	101882770		2203	4300	6503	101669490	SO:0001587	stop_gained	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3793C>T	7.37:g.101882770C>T	ENSP00000292535:p.Gln1265*		101669490	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	41	8.882154	0.98988	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-14.4747	18.0899	0.89471	0.0:1.0:0.0:0.0	.	.	.	.	X	1276;1265;1243;1209;1163;1107	.	ENSP00000292535:Q1265X	Q	+	1	0	CUX1	101669490	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.696000	0.84270	2.267000	0.75376	0.655000	0.94253	CAA		0.592	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		T	101882770	C	T	101882770	4	4	418	1	0	0	0	0	0	1	0	0	4064	711	25	2	3950	2	CUX1	7	101882770	Nonsense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	37806	101882770	57255893	27	22895											
WHSC1L1	54904	genome.wustl.edu	37	8	38146956	38146956	+	Silent	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr8:38146956C>T	ENST00000317025.8	-	18	3703	c.3186G>A	c.(3184-3186)gaG>gaA	p.E1062E	WHSC1L1_ENST00000433384.2_Silent_p.E1013E|WHSC1L1_ENST00000527502.1_Silent_p.E1062E	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1062					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTTTTTCAATCTCTAGGGCTT	0.368			T	NUP98	AML																																		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0			8											242	223	229					8																	38146956		1811	4068	5879	38266113	SO:0001819	synonymous_variant	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3186G>A	8.37:g.38146956C>T			38266113	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	CCDS43729.1																																																																																				0.368	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		T	38146956	C	T	38146956	2	4	418	1	0	0	0	0	0	0	0	1	17363	912	32	2		2	WHSC1L1	8	38146956	Silent	SNP	C	TCGA-61-1722-01A-01D-1556-09		38146956	108217066	28	22896											
KIF12	113220	genome.wustl.edu	37	9	116854183	116854183	+	Silent	SNP	A	A	G	rs117751044	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr9:116854183A>G	ENST00000374118.3	-	16	1737	c.1500T>C	c.(1498-1500)agT>agC	p.S500S	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	633	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GTGCGCCCTCACTGCAGGGTG	0.652													A|||	56	0.0111821	0.0015	0.0202	5008	,	,		14225	0		0.0318	False		,,,				2504	0.0082															0			9						A		24,4382	26.2+/-53.5	0,24,2179	44	43	43		1500	-7.6	0	9	dbSNP_132	43	268,8332	100.1+/-161.6	3,262,4035	no	coding-synonymous	KIF12	NM_138424.1		3,286,6214	GG,GA,AA		3.1163,0.5447,2.2451		500/514	116854183	292,12714	2203	4300	6503	115894004	SO:0001819	synonymous_variant	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1500T>C	9.37:g.116854183A>G			115894004	Q5TBE0	Silent	SNP	ENST00000374118.3	37	CCDS6801.1																																																																																				0.652	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		G	116854183	A	G	116854183	2	3	418	1	0	0	0	0	0	0	0	1	8273	156	6	4		4	KIF12	9	116854183	Silent	SNP	A	TCGA-61-1722-01A-01D-1556-09		116854183	24359248	29	22897											
ASB6	140459	genome.wustl.edu	37	9	132400169	132400169	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr9:132400169G>A	ENST00000277458.4	-	6	1331	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.P310L|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	389	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CACAGGCCACGGCTGAAGGTA	0.602																																																0			9											56	56	56					9																	132400169		2203	4300	6503	131439990	SO:0001583	missense	140459				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1166C>T	9.37:g.132400169G>A	ENSP00000277458:p.Pro389Leu		131439990	Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781252	0.90282	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.40476	1.03;1.03	5.06	5.06	0.68205	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63576	-0.6606	10	0.62326	D	0.03	-47.5427	17.5884	0.87989	0.0:0.0:1.0:0.0	.	310;389;389	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	L	389;310	ENSP00000277458:P389L;ENSP00000416172:P310L	ENSP00000277458:P389L	P	-	2	0	ASB6	131439990	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	8.706000	0.91362	2.635000	0.89317	0.462000	0.41574	CCG		0.602	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		A	132400169	G	A	132400169	3	1	418	1	0	0	0	0	1	0	0	0	1027	1116	39	1	103	1	ASB6	9	132400169	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09	15545986	132400169	8813262	30	22898											
PDCD11	22984	genome.wustl.edu	37	10	105202061	105202061	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr10:105202061G>A	ENST00000369797.3	+	32	4893	c.4799G>A	c.(4798-4800)cGg>cAg	p.R1600Q		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1600					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GATCCTGGGCGGCAGCCAGAG	0.557																																																0			10											95	95	95					10																	105202061		2203	4300	6503	105192051	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4799G>A	10.37:g.105202061G>A	ENSP00000358812:p.Arg1600Gln		105192051	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668574	0.47677	.	.	ENSG00000148843	ENST00000369797	T	0.35236	1.32	5.27	5.27	0.74061	.	0.265619	0.38058	N	0.001831	T	0.38374	0.1038	N	0.21373	0.66	0.24037	N	0.99609	D	0.71674	0.998	P	0.51016	0.656	T	0.27400	-1.0075	10	0.52906	T	0.07	-0.4849	19.2502	0.93921	0.0:0.0:1.0:0.0	.	1600	Q14690	RRP5_HUMAN	Q	1600	ENSP00000358812:R1600Q	ENSP00000358812:R1600Q	R	+	2	0	PDCD11	105192051	0.996000	0.38824	0.096000	0.21009	0.066000	0.16364	5.556000	0.67307	2.619000	0.88677	0.561000	0.74099	CGG		0.557	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			A	105202061	G	A	105202061	3	1	418	1	0	0	0	0	1	0	0	0	11617	1116	39	1	4921	1	PDCD11	10	105202061	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09		105202061	30332686	31	22899											
LDHA	3939	genome.wustl.edu	37	11	18425354	18425354	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:18425354G>C	ENST00000422447.3	+	6	979	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	LDHA_ENST00000396222.2_Intron|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000540430.1_Missense_Mutation_p.E265Q|LDHA_ENST00000227157.4_Missense_Mutation_p.E236Q|LDHA_ENST00000430553.2_Missense_Mutation_p.E178Q|LDHA_ENST00000542179.1_Missense_Mutation_p.E236Q|LDHA_ENST00000379412.5_Missense_Mutation_p.E236Q	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	236					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						GCAGGTGGTTGAGAGGTAATA	0.338																																																0			11											91	89	90					11																	18425354		2199	4293	6492	18381930	SO:0001583	missense	3939			X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.706G>C	11.37:g.18425354G>C	ENSP00000395337:p.Glu236Gln		18381930	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859257	0.51376	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.34	5.34	0.76211	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.177301	0.48286	D	0.000189	T	0.50531	0.1621	N	0.20401	0.57	0.39968	D	0.974751	B;B;B;B;B	0.10296	0.0;0.0;0.003;0.001;0.0	B;B;B;B;B	0.14578	0.002;0.003;0.011;0.002;0.001	T	0.42396	-0.9454	10	0.30854	T	0.27	-2.4514	19.4115	0.94675	0.0:0.0:1.0:0.0	.	265;178;209;236;236	B7Z5E3;B4DKQ2;B4DJI1;F8W819;P00338	.;.;.;.;LDHA_HUMAN	Q	236;178;208;209;236;265;236;236	ENSP00000395337:E236Q;ENSP00000406172:E178Q;ENSP00000227157:E236Q;ENSP00000445175:E265Q;ENSP00000368722:E236Q;ENSP00000445331:E236Q	ENSP00000227157:E236Q	E	+	1	0	LDHA	18381930	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.811000	0.86092	2.651000	0.90000	0.585000	0.79938	GAG		0.338	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		C	18425354	G	C	18425354	3	2	418	1	0	0	0	0	1	0	0	0	8698	1291	45	3	815	3	LDHA	11	18425354	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09		18425354	116581162	32	22900											
OR4C13	283092	genome.wustl.edu	37	11	49974531	49974531	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:49974531C>T	ENST00000555099.1	+	1	589	c.557C>T	c.(556-558)gCc>gTc	p.A186V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATCAATCTTGCCTGCACTAAT	0.438																																																0			11											232	205	214					11																	49974531		2201	4296	6497	49931107	SO:0001583	missense	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.557C>T	11.37:g.49974531C>T	ENSP00000452277:p.Ala186Val		49931107	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	3.393	-0.123836	0.06795	.	.	ENSG00000258817	ENST00000555099	T	0.00183	8.6	2.7	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.145928	0.31636	N	0.007304	T	0.00210	0.0006	M	0.71036	2.16	0.20196	N	0.999923	B	0.19331	0.035	B	0.26969	0.075	T	0.29579	-1.0007	9	.	.	.	.	7.2981	0.26405	0.0:0.8576:0.0:0.1424	.	186	Q8NGP0	OR4CD_HUMAN	V	186	ENSP00000452277:A186V	.	A	+	2	0	OR4C13	49931107	0.000000	0.05858	0.976000	0.42696	0.088000	0.18126	0.162000	0.16501	0.474000	0.27392	0.186000	0.17326	GCC		0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		T	49974531	C	T	49974531	3	4	418	1	0	0	0	0	1	0	0	0	11047	739	26	2	559	2	OR4C13	11	49974531	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	31549177	49974531	85031985	33	22901											
DTX4	23220	genome.wustl.edu	37	11	58949652	58949652	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:58949652C>G	ENST00000227451.3	+	2	756	c.652C>G	c.(652-654)Cgc>Ggc	p.R218G	DTX4_ENST00000532982.1_Missense_Mutation_p.R112G	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	218					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCAGTGACCCGCAAGAACAT	0.627																																																0			11											22	28	26					11																	58949652		2006	4170	6176	58706228	SO:0001583	missense	23220			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.652C>G	11.37:g.58949652C>G	ENSP00000227451:p.Arg218Gly		58706228	Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715155	0.15306	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.12039	2.72;2.9	4.32	4.32	0.51571	.	1.287480	0.05950	N	0.638651	T	0.32315	0.0825	L	0.54323	1.7	0.36988	D	0.894667	D	0.60160	0.987	D	0.65010	0.931	T	0.03673	-1.1014	10	0.17832	T	0.49	.	14.1816	0.65578	0.0:1.0:0.0:0.0	.	218	Q9Y2E6	DTX4_HUMAN	G	112;218	ENSP00000434055:R112G;ENSP00000227451:R218G	ENSP00000227451:R218G	R	+	1	0	DTX4	58706228	0.616000	0.27035	0.990000	0.47175	0.127000	0.20565	0.919000	0.28692	2.410000	0.81850	0.655000	0.94253	CGC		0.627	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		G	58949652	C	G	58949652	3	3	418	1	0	0	0	0	1	0	0	0	4797	652	23	3	658	3	DTX4	11	58949652	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	8975121	58949652	76056864	34	22902											
UBXN1	51035	genome.wustl.edu	37	11	62444292	62444292	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:62444292C>A	ENST00000301935.5	-	8	1003	c.837G>T	c.(835-837)caG>caT	p.Q279H	UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000529640.1_Missense_Mutation_p.Q275H|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000294119.2_Missense_Mutation_p.Q279H			Q04323	UBXN1_HUMAN	UBX domain protein 1	279	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						TACCCAGCTCCTGCAGAGGCC	0.582																																																0			11											107	113	111					11																	62444292		2202	4299	6501	62200868	SO:0001583	missense	51035				CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"UBX domain containing"	18402	protein-coding gene	gene with protein product	"SAPK substrate protein 1"					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.837G>T	11.37:g.62444292C>A	ENSP00000303991:p.Gln279His		62200868	Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37		.	.	.	.	.	.	.	.	.	.	C	16.47	3.132221	0.56828	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.23754	1.89;1.91;1.91;1.91	5.24	4.33	0.51752	UBX (3);	0.104115	0.64402	D	0.000002	T	0.39627	0.1085	L	0.49778	1.585	0.47698	D	0.999499	D;D;D	0.65815	0.99;0.995;0.994	P;D;P	0.67231	0.9;0.95;0.892	T	0.16958	-1.0385	10	0.54805	T	0.06	-17.3068	8.5566	0.33485	0.0:0.8214:0.0:0.1786	.	275;279;279	E9PRQ7;Q04323;Q04323-2	.;UBXN1_HUMAN;.	H	279;279;182;275;279	ENSP00000294119:Q279H;ENSP00000303991:Q279H;ENSP00000435964:Q275H;ENSP00000435625:Q279H	ENSP00000294119:Q279H	Q	-	3	2	UBXN1	62200868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.597000	0.36729	1.518000	0.48934	0.655000	0.94253	CAG		0.582	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		A	62444292	C	A	62444292	3	1	418	1	0	0	0	0	1	0	0	0	16911	680	24	3	105	3	UBXN1	11	62444292	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	3494640	62444292	72562224	35	22903											
ZBTB3	79842	genome.wustl.edu	37	11	62520022	62520022	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:62520022G>T	ENST00000394807.3	-	2	1390	c.1265C>A	c.(1264-1266)cCc>cAc	p.P422H		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CAGATGGTAGGGTAGATGAGG	0.602																																																0			11											58	49	52					11																	62520022		2202	4299	6501	62276598	SO:0001583	missense	79842			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1265C>A	11.37:g.62520022G>T	ENSP00000378286:p.Pro422His		62276598		Missense_Mutation	SNP	ENST00000394807.3	37	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836059	0.50951	.	.	ENSG00000185670	ENST00000394807	T	0.16743	2.32	4.51	4.51	0.55191	.	0.119100	0.64402	D	0.000018	T	0.27798	0.0684	L	0.27053	0.805	0.37954	D	0.932744	D	0.89917	1.0	D	0.68765	0.96	T	0.14227	-1.0480	10	0.54805	T	0.06	.	14.7364	0.69419	0.0:0.0:1.0:0.0	.	422	Q9H5J0	ZBTB3_HUMAN	H	422	ENSP00000378286:P422H	ENSP00000378286:P422H	P	-	2	0	ZBTB3	62276598	1.000000	0.71417	0.982000	0.44146	0.929000	0.56500	1.485000	0.35519	2.066000	0.61787	0.561000	0.74099	CCC		0.602	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		T	62520022	G	T	62520022	3	4	418	1	0	0	0	0	1	0	0	0	17534	1232	43	3	463	3	ZBTB3	11	62520022	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09	75730	62520022	72486494	36	22904											
GRAMD1B	57476	genome.wustl.edu	37	11	123477358	123477358	+	Silent	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:123477358C>T	ENST00000529750.1	+	10	1263	c.936C>T	c.(934-936)gaC>gaT	p.D312D	GRAMD1B_ENST00000450171.2_5'Flank|GRAMD1B_ENST00000322282.7_Silent_p.D312D|GRAMD1B_ENST00000456860.2_Silent_p.D319D	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	312						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGGAGGGAGACGGGTCCCTGG	0.547																																																0			11											42	46	44					11																	123477358		1968	4141	6109	122982568	SO:0001819	synonymous_variant	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.936C>T	11.37:g.123477358C>T			122982568	Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	37	CCDS53720.1																																																																																				0.547	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		T	123477358	C	T	123477358	2	4	418	1	0	0	0	0	0	0	0	1	6748	535	19	1		1	GRAMD1B	11	123477358	Silent	SNP	C	TCGA-61-1722-01A-01D-1556-09	60957336	123477358	11529158	37	22905											
IL26	55801	genome.wustl.edu	37	12	68595709	68595709	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr12:68595709A>C	ENST00000229134.4	-	5	496	c.432T>G	c.(430-432)atT>atG	p.I144M	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	144					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CTTTGTTTCCAATCTGCAGAT	0.279																																																0			12											50	53	52					12																	68595709		2197	4294	6491	66881976	SO:0001583	missense	55801			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.432T>G	12.37:g.68595709A>C	ENSP00000229134:p.Ile144Met		66881976		Missense_Mutation	SNP	ENST00000229134.4	37	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094811	0.36952	.	.	ENSG00000111536	ENST00000229134	T	0.64085	-0.08	5.39	4.21	0.49690	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.247537	0.28219	N	0.016156	T	0.60143	0.2246	L	0.40543	1.245	0.33100	D	0.539162	P	0.48998	0.918	P	0.52267	0.694	T	0.67313	-0.5702	9	.	.	.	-19.0888	8.5715	0.33572	0.9105:0.0:0.0895:0.0	.	144	Q9NPH9	IL26_HUMAN	M	144	ENSP00000229134:I144M	.	I	-	3	3	IL26	66881976	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	1.767000	0.38501	0.952000	0.37798	0.460000	0.39030	ATT		0.279	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		C	68595709	A	C	68595709	3	2	418	1	0	0	0	0	1	0	0	0	7679	126	5	5	87	5	IL26	12	68595709	Missense_Mutation	SNP	A	TCGA-61-1722-01A-01D-1556-09		68595709	65256186	38	22906											
WDR66	144406	genome.wustl.edu	37	12	122359529	122359529	+	Silent	SNP	C	C	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr12:122359529C>A	ENST00000288912.4	+	2	1172	c.318C>A	c.(316-318)tcC>tcA	p.S106S	WDR66_ENST00000397454.2_Silent_p.S106S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	106							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCACAGCGTCCATGATCCGTT	0.428																																					Esophageal Squamous(85;849 1794 49757 52143)											0			12											118	117	117					12																	122359529		1974	4170	6144	120843912	SO:0001819	synonymous_variant	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.318C>A	12.37:g.122359529C>A			120843912	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	CCDS41853.1																																																																																				0.428	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		A	122359529	C	A	122359529	2	1	418	1	0	0	0	0	0	0	0	1	17317	581	21	3		3	WDR66	12	122359529	Silent	SNP	C	TCGA-61-1722-01A-01D-1556-09	53763820	122359529	11492366	39	22907											
TMTC4	84899	genome.wustl.edu	37	13	101287146	101287146	+	Silent	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr13:101287146C>T	ENST00000376234.3	-	11	1551	c.1362G>A	c.(1360-1362)acG>acA	p.T454T	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Silent_p.T473T|TMTC4_ENST00000328767.5_Silent_p.T343T	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	454						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACATCTCAGCGTGTTGATGA	0.507																																																0			13											117	115	116					13																	101287146		2203	4300	6503	100085147	SO:0001819	synonymous_variant	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1362G>A	13.37:g.101287146C>T			100085147	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	CCDS41904.1																																																																																				0.507	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		T	101287146	C	T	101287146	2	4	418	1	0	0	0	0	0	0	0	1	16263	755	27	1		1	TMTC4	13	101287146	Silent	SNP	C	TCGA-61-1722-01A-01D-1556-09		101287146	13882732	40	22908											
FAM155A	728215	genome.wustl.edu	37	13	108518300	108518300	+	Silent	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr13:108518300G>C	ENST00000375915.2	-	1	783	c.645C>G	c.(643-645)ctC>ctG	p.L215L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	215						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ACAAGTTCCAGAGCGGAGTGG	0.582																																																0			13											82	93	89					13																	108518300		2203	4300	6503	107316301	SO:0001819	synonymous_variant	728215			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.645C>G	13.37:g.108518300G>C			107316301	B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	CCDS32006.1																																																																																				0.582	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		C	108518300	G	C	108518300	2	2	418	1	0	0	0	0	0	0	0	1	5465	929	33	3		3	FAM155A	13	108518300	Silent	SNP	G	TCGA-61-1722-01A-01D-1556-09	7231154	108518300	6651578	41	22909											
SYNE2	23224	genome.wustl.edu	37	14	64586322	64586322	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr14:64586322G>T	ENST00000344113.4	+	67	13230	c.13018G>T	c.(13018-13020)Gat>Tat	p.D4340Y	SYNE2_ENST00000357395.3_Missense_Mutation_p.D725Y|SYNE2_ENST00000358025.3_Missense_Mutation_p.D4340Y|SYNE2_ENST00000555002.1_Missense_Mutation_p.D974Y|SYNE2_ENST00000394768.2_Missense_Mutation_p.D725Y|SYNE2_ENST00000554584.1_Missense_Mutation_p.D4355Y|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000553455.1_Missense_Mutation_p.D59Y	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4340					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACAGTGAAGATCAGGTAAA	0.428																																																0			14											59	54	56					14																	64586322		2203	4300	6503	63656075	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13018G>T	14.37:g.64586322G>T	ENSP00000341781:p.Asp4340Tyr		63656075	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255740	0.39896	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553455	T;T;T;T;T;T	0.57273	0.8;4.11;0.8;0.41;4.16;4.11	5.35	2.5	0.30297	.	0.199145	0.34802	N	0.003664	T	0.57858	0.2082	L	0.47716	1.5	0.80722	D	1	P;D;D	0.60575	0.889;0.979;0.988	P;P;P	0.58873	0.709;0.707;0.847	T	0.57476	-0.7805	10	0.52906	T	0.07	.	10.4193	0.44341	0.2134:0.0:0.7866:0.0	.	725;4340;4340	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Y	4340;725;4340;4355;4355;974;725;59	ENSP00000350719:D4340Y;ENSP00000349969:D725Y;ENSP00000341781:D4340Y;ENSP00000452570:D4355Y;ENSP00000450831:D974Y;ENSP00000378249:D725Y	ENSP00000261678:D4355Y	D	+	1	0	SYNE2	63656075	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.137000	0.50562	0.748000	0.32831	0.563000	0.77884	GAT		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64586322	G	T	64586322	3	4	418	1	0	0	0	0	1	0	0	0	15446	942	33	3	13280	3	SYNE2	14	64586322	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09		64586322	42763218	42	22910											
PLEKHH1	57475	genome.wustl.edu	37	14	68053893	68053893	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr14:68053893G>A	ENST00000329153.5	+	29	4168	c.4036G>A	c.(4036-4038)Gat>Aat	p.D1346N	PLEKHH1_ENST00000417684.2_Missense_Mutation_p.G287E	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1346						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GTGGGAACTGGATGGACGACA	0.527																																																0			14											121	132	128					14																	68053893		1955	4137	6092	67123646	SO:0001583	missense	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.4036G>A	14.37:g.68053893G>A	ENSP00000330278:p.Asp1346Asn		67123646	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.182208|4.182208	0.78677|0.78677	.|.	.|.	ENSG00000054690|ENSG00000054690	ENST00000329153|ENST00000417684	T|.	0.74002|.	-0.8|.	5.44|5.44	4.55|4.55	0.56014|0.56014	.|.	0.098766|.	0.64402|.	D|.	0.000002|.	T|T	0.58352|0.58352	0.2116|0.2116	L|L	0.56769|0.56769	1.78|1.78	0.27516|0.27516	N|N	0.951549|0.951549	B|D	0.34103|0.59767	0.437|0.986	B|P	0.34931|0.54060	0.192|0.741	T|T	0.56294|0.56294	-0.8003|-0.8003	10|8	0.19147|0.87932	T|D	0.46|0	.|.	14.6944|14.6944	0.69110|0.69110	0.0:0.1446:0.8554:0.0|0.0:0.1446:0.8554:0.0	.|.	1346|287	Q9ULM0|E7ESY2	PKHH1_HUMAN|.	N|E	1346|287	ENSP00000330278:D1346N|.	ENSP00000330278:D1346N|ENSP00000397712:G287E	D|G	+|+	1|2	0|0	PLEKHH1|PLEKHH1	67123646|67123646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.768000|0.768000	0.43524|0.43524	6.211000|6.211000	0.72182|0.72182	1.519000|1.519000	0.48950|0.48950	-0.175000|-0.175000	0.13238|0.13238	GAT|GGA		0.527	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		A	68053893	G	A	68053893	3	1	418	1	0	0	0	0	1	0	0	0	12076	1174	41	2	4146	2	PLEKHH1	14	68053893	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09	3467571	68053893	39295647	43	22911											
THBS1	7057	genome.wustl.edu	37	15	39886353	39886353	+	Silent	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr15:39886353C>T	ENST00000260356.5	+	20	3486	c.3321C>T	c.(3319-3321)gcC>gcT	p.A1107A	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1107	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATTTCACCGCCTACAGATGGC	0.483																																																0			15											63	61	62					15																	39886353		2200	4297	6497	37673645	SO:0001819	synonymous_variant	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3321C>T	15.37:g.39886353C>T			37673645	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																				0.483	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		T	39886353	C	T	39886353	2	4	418	1	0	0	0	0	0	0	0	1	15853	668	24	2		2	THBS1	15	39886353	Silent	SNP	C	TCGA-61-1722-01A-01D-1556-09		39886353	62645039	44	22912											
HYDIN	54768	genome.wustl.edu	37	16	70937538	70937538	+	Silent	SNP	A	A	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr16:70937538A>G	ENST00000393567.2	-	52	8989	c.8839T>C	c.(8839-8841)Ttg>Ctg	p.L2947L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2947					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTGCAGCAAGAGCCGGTCA	0.488																																																0			16											1	1	1					16																	70937538		23	71	94	69495039	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8839T>C	16.37:g.70937538A>G			69495039	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	70937538	A	G	70937538	2	3	418	1	0	0	0	0	0	0	0	1	7467	69	3	4		4	HYDIN	16	70937538	Silent	SNP	A	TCGA-61-1722-01A-01D-1556-09		70937538	19417215	45	22913											
MYH8	4626	genome.wustl.edu	37	17	10322294	10322294	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr17:10322294G>T	ENST00000403437.2	-	4	358	c.264C>A	c.(262-264)gaC>gaA	p.D88E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	88	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCAATTTTGTCATATTTCG	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0			17											173	154	160					17																	10322294		2203	4300	6503	10263019	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.264C>A	17.37:g.10322294G>T	ENSP00000384330:p.Asp88Glu		10263019	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013542	0.35511	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.71698	-0.59	3.33	3.33	0.38152	Myosin head, motor domain (1);	0.000000	0.43579	U	0.000547	T	0.55529	0.1926	L	0.45581	1.43	0.41226	D	0.986541	B	0.02656	0.0	B	0.06405	0.002	T	0.45220	-0.9276	10	0.07482	T	0.82	.	8.0243	0.30427	0.1994:0.0:0.8006:0.0	.	88	P13535	MYH8_HUMAN	E	88	ENSP00000384330:D88E	ENSP00000252173:D88E	D	-	3	2	MYH8	10263019	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.854000	0.27791	1.871000	0.54225	0.460000	0.39030	GAC		0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10322294	G	T	10322294	3	4	418	1	0	0	0	0	1	0	0	0	10041	1368	48	3	5697	3	MYH8	17	10322294	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09		10322294	70872916	46	22914											
DNAH9	1770	genome.wustl.edu	37	17	11696830	11696830	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr17:11696830T>C	ENST00000262442.4	+	42	8140	c.8072T>C	c.(8071-8073)tTc>tCc	p.F2691S	DNAH9_ENST00000454412.2_Missense_Mutation_p.F2691S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2691					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCATTCTCTTCTCCTCAGTG	0.398																																																0			17											143	131	135					17																	11696830		2203	4300	6503	11637555	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8072T>C	17.37:g.11696830T>C	ENSP00000262442:p.Phe2691Ser		11637555	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620398	0.87460	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44482	0.92;0.92	5.76	5.76	0.90799	.	0.115864	0.64402	D	0.000014	T	0.60170	0.2248	L	0.55103	1.725	0.80722	D	1	D	0.62365	0.991	D	0.72625	0.978	T	0.59606	-0.7423	10	0.48119	T	0.1	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	2691	Q9NYC9	DYH9_HUMAN	S	2691;2691;1273	ENSP00000262442:F2691S;ENSP00000414874:F2691S	ENSP00000262442:F2691S	F	+	2	0	DNAH9	11637555	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.841000	0.86834	2.191000	0.70037	0.533000	0.62120	TTC		0.398	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11696830	T	C	11696830	3	2	418	1	0	0	0	0	1	0	0	0	4608	1783	62	4	8238	4	DNAH9	17	11696830	Missense_Mutation	SNP	T	TCGA-61-1722-01A-01D-1556-09	1374536	11696830	69498380	47	22915											
MYO15A	51168	genome.wustl.edu	37	17	18023083	18023083	+	Silent	SNP	G	G	A	rs371387378	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr17:18023083G>A	ENST00000205890.5	+	2	1307	c.969G>A	c.(967-969)tcG>tcA	p.S323S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	323					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGGGTACTCGTCTCCTTACA	0.612													G|||	5	0.000998403	0.003	0	5008	,	,		16505	0.001		0	False		,,,				2504	0															0			17						G		6,3944		0,6,1969	61	68	65		969	-3.2	0.1	17		65	0,8280		0,0,4140	no	coding-synonymous	MYO15A	NM_016239.3		0,6,6109	AA,AG,GG		0.0,0.1519,0.0491		323/3531	18023083	6,12224	1975	4140	6115	17963808	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.969G>A	17.37:g.18023083G>A			17963808	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18023083	G	A	18023083	2	1	418	1	0	0	0	0	0	0	0	1	10063	1132	40	1		1	MYO15A	17	18023083	Silent	SNP	G	TCGA-61-1722-01A-01D-1556-09	6326253	18023083	63172127	48	22916											
PIAS2	9063	genome.wustl.edu	37	18	44400988	44400988	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr18:44400988G>A	ENST00000585916.1	-	12	1555	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	PIAS2_ENST00000324794.7_Missense_Mutation_p.S519L|PIAS2_ENST00000545673.1_Missense_Mutation_p.S229L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	519					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S519L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AGGATCAACCGAAGTCACACT	0.448																																																2	Substitution - Missense(2)	large_intestine(2)	18											222	190	201					18																	44400988		2203	4300	6503	42654986	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1556C>T	18.37:g.44400988G>A	ENSP00000465676:p.Ser519Leu		42654986	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192791	0.58017	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.46063	0.88;1.45	5.76	4.88	0.63580	.	0.485781	0.22326	N	0.061533	T	0.36441	0.0967	L	0.36672	1.1	0.80722	D	1	B;B;B	0.28082	0.2;0.148;0.012	B;B;B	0.26969	0.075;0.039;0.002	T	0.21965	-1.0230	10	0.72032	D	0.01	-0.1011	15.2294	0.73374	0.0:0.266:0.734:0.0	.	229;519;519	B4DGW0;O75928-2;O75928	.;.;PIAS2_HUMAN	L	519;519;229;519	ENSP00000443238:S229L;ENSP00000317163:S519L	ENSP00000262161:S519L	S	-	2	0	PIAS2	42654986	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.657000	0.67996	1.421000	0.47157	0.650000	0.86243	TCG		0.448	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		A	44400988	G	A	44400988	3	1	418	1	0	0	0	0	1	0	0	0	11876	1059	37	1	396	1	PIAS2	18	44400988	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09		44400988	33676260	49	22917											
ZNF43	7594	genome.wustl.edu	37	19	21991220	21991220	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr19:21991220C>G	ENST00000354959.4	-	4	1788	c.1619G>C	c.(1618-1620)tGt>tCt	p.C540S	ZNF43_ENST00000595461.1_Missense_Mutation_p.C534S|ZNF43_ENST00000598381.1_Missense_Mutation_p.C534S|ZNF43_ENST00000594012.1_Missense_Mutation_p.C534S	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	540					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACATTCTTCACATTTGTAGGG	0.378																																																0			19											54	57	56					19																	21991220		2178	4280	6458	21783060	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1619G>C	19.37:g.21991220C>G	ENSP00000347045:p.Cys540Ser		21783060	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	8.851	0.944696	0.18356	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	D	0.85171	-1.95	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93006	0.7774	M	0.93062	3.375	0.32288	N	0.566643	D	0.89917	1.0	D	0.97110	1.0	D	0.92106	0.5692	9	0.87932	D	0	.	10.4707	0.44635	0.0:1.0:0.0:0.0	.	540	P17038	ZNF43_HUMAN	S	539;540	ENSP00000347045:C540S	ENSP00000347045:C540S	C	-	2	0	ZNF43	21783060	0.959000	0.32827	0.495000	0.27527	0.897000	0.52465	2.733000	0.47360	0.976000	0.38417	0.305000	0.20034	TGT		0.378	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		G	21991220	C	G	21991220	3	3	418	1	0	0	0	0	1	0	0	0	17903	478	17	3	814	3	ZNF43	19	21991220	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09		21991220	37137763	50	22918											
SLC7A9	11136	genome.wustl.edu	37	19	33355662	33355662	+	Silent	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr19:33355662G>A	ENST00000023064.4	-	3	299	c.108C>T	c.(106-108)atC>atT	p.I36I	SLC7A9_ENST00000590341.1_Silent_p.I36I|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Silent_p.I36I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	36					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CGATGATGGAGATGCCACTGA	0.617																																					GBM(181;1335 2108 9644 44178 46689)											0			19											167	156	159					19																	33355662		2203	4300	6503	38047502	SO:0001819	synonymous_variant	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.108C>T	19.37:g.33355662G>A			38047502	B2R9A6	Silent	SNP	ENST00000023064.4	37	CCDS12425.1																																																																																				0.617	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			A	33355662	G	A	33355662	2	1	418	1	0	0	0	0	0	0	0	1	14708	932	33	2		2	SLC7A9	19	33355662	Silent	SNP	G	TCGA-61-1722-01A-01D-1556-09	11364442	33355662	25773321	51	22919											
ZNF571	51276	genome.wustl.edu	37	19	38056088	38056088	+	Silent	SNP	G	G	A	rs143272285	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr19:38056088G>A	ENST00000328550.2	-	4	1341	c.1242C>T	c.(1240-1242)acC>acT	p.T414T	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000358744.3_Silent_p.T414T|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000593133.1_Silent_p.T414T|ZNF571_ENST00000451802.2_Silent_p.T414T|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	414					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)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTTCTCTCCGGTATGAATTC	0.373													G|||	4	0.000798722	0	0	5008	,	,		20876	0		0.003	False		,,,				2504	0.001															0			19						G		3,4403	4.2+/-10.8	0,3,2200	36	40	39		1242	-6.9	0.5	19	dbSNP_134	39	22,8578	15.3+/-51.7	0,22,4278	no	coding-synonymous	ZNF571	NM_016536.3		0,25,6478	AA,AG,GG		0.2558,0.0681,0.1922		414/610	38056088	25,12981	2203	4300	6503	42747928	SO:0001819	synonymous_variant	51276			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1242C>T	19.37:g.38056088G>A			42747928	Q2HIY0|Q3ZCU3|Q9NZX7	Silent	SNP	ENST00000328550.2	37	CCDS12505.1																																																																																				0.373	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		A	38056088	G	A	38056088	2	1	418	1	0	0	0	0	0	0	0	1	18003	1103	39	1		1	ZNF571	19	38056088	Silent	SNP	G	TCGA-61-1722-01A-01D-1556-09	4700426	38056088	21072895	52	22920											
CSNK2A1	1457	genome.wustl.edu	37	20	485797	485797	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:485797T>G	ENST00000217244.3	-	4	553	c.178A>C	c.(178-180)Aca>Cca	p.T60P	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T60P|CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.T60P	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TCATTATTTGTGATGTTGATG	0.323																																																0			20											80	71	74					20																	485797		2203	4299	6502	433797	SO:0001583	missense	1457			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.178A>C	20.37:g.485797T>G	ENSP00000217244:p.Thr60Pro		433797	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754595	0.49362	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.65732	-0.17;-0.17;-0.17	4.45	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048362	0.85682	D	0.000000	T	0.52837	0.1759	L	0.39692	1.235	0.80722	D	1	B	0.12013	0.005	B	0.17722	0.019	T	0.50642	-0.8804	10	0.35671	T	0.21	-3.682	13.3394	0.60537	0.0:0.0:0.0:1.0	.	60	P68400	CSK21_HUMAN	P	60	ENSP00000383086:T60P;ENSP00000339247:T60P;ENSP00000217244:T60P	ENSP00000217244:T60P	T	-	1	0	CSNK2A1	433797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.005000	0.58758	0.459000	0.35465	ACA		0.323	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		G	485797	T	G	485797	3	3	418	1	0	0	0	0	1	0	0	0	3957	1696	59	5	1041	5	CSNK2A1	20	485797	Missense_Mutation	SNP	T	TCGA-61-1722-01A-01D-1556-09		485797	62539723	53	22921											
SLC4A11	83959	genome.wustl.edu	37	20	3218563	3218563	+	5'Flank	SNP	T	T	C	rs79057061	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:3218563T>C	ENST00000380056.3	-	0	0				SLC4A11_ENST00000539553.2_Intron|SLC4A11_ENST00000380059.3_Missense_Mutation_p.R50G	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11						bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CAGGTTTTCCTGAGAAAACCC	0.642													T|||	321	0.0640974	0.1195	0.0648	5008	,	,		16349	0.001		0.1044	False		,,,				2504	0.0123				NSCLC(190;922 2139 10266 10292 38692)											0			20																																								3166563	SO:0001631	upstream_gene_variant	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740		20.37:g.3218563T>C	Exception_encountered		3166563	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	139	0.06364468864468864	47	0.09552845528455285	25	0.06906077348066299	0	0.0	67	0.08839050131926121	T	6.325	0.428152	0.11987	.	.	ENSG00000088836	ENST00000380059	D	0.81908	-1.55	3.26	0.569	0.17340	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.80722	P	0.0	B	0.14012	0.009	B	0.10450	0.005	T	0.14282	-1.0478	8	0.22706	T	0.39	.	3.4068	0.07344	0.2334:0.0:0.2404:0.5262	.	50	B4DKC8	.	G	50	ENSP00000369399:R50G	ENSP00000369399:R50G	R	-	1	2	SLC4A11	3166563	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.121000	0.15667	0.414000	0.25790	0.402000	0.26972	AGG		0.642	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			C	3218563	T	C	3218563	1	2	418	0	1	0	0	0	0	0	0	0	14655	1579	55	4		4	SLC4A11	20	3218563	5'Flank	SNP	T	TCGA-61-1722-01A-01D-1556-09	2732766	3218563	59806957	54	22922											
CSRP2BP	57325	genome.wustl.edu	37	20	18131466	18131466	+	Splice_Site	SNP	T	T	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:18131466T>G	ENST00000435364.3	+	3	721	c.380T>G	c.(379-381)gTc>gGc	p.V127G	CSRP2BP_ENST00000377681.3_Splice_Site_p.V127G|CSRP2BP_ENST00000489634.2_5'UTR	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	127					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTGTTTCAGGTCGTCATGTTG	0.413																																																0			20											257	239	245					20																	18131466		2203	4300	6503	18079466	SO:0001630	splice_region_variant	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.379-1T>G	20.37:g.18131466T>G			18079466	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450055	0.84101	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364	T;T;T	0.22539	1.95;1.96;1.95	5.1	5.1	0.69264	.	0.062950	0.64402	D	0.000006	T	0.32071	0.0817	M	0.66297	2.02	0.80722	D	1	P	0.45348	0.856	P	0.46144	0.505	T	0.14200	-1.0481	10	0.87932	D	0	-25.7281	15.1792	0.72941	0.0:0.0:0.0:1.0	.	127	Q9H8E8	CSR2B_HUMAN	G	127	ENSP00000278816:V127G;ENSP00000366909:V127G;ENSP00000392318:V127G	ENSP00000278816:V127G	V	+	2	0	CSRP2BP	18079466	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	7.363000	0.79516	2.044000	0.60594	0.455000	0.32223	GTC		0.413	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536	Missense_Mutation	G	18131466	T	G	18131466	5	3	418	1	0	0	0	0	0	0	1	0	3968	1681	58	5	390	5	CSRP2BP	20	18131466	Splice_Site	SNP	T	TCGA-61-1722-01A-01D-1556-09	14912903	18131466	44894054	55	22923											
PYGB	5834	genome.wustl.edu	37	20	25261685	25261685	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:25261685T>C	ENST00000216962.4	+	11	1450	c.1340T>C	c.(1339-1341)gTg>gCg	p.V447A		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	447					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CACCTGTGTGTGATTGGGTCC	0.632																																																0			20											295	242	260					20																	25261685		2203	4300	6503	25209685	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1340T>C	20.37:g.25261685T>C	ENSP00000216962:p.Val447Ala		25209685	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.776416	0.70107	.	.	ENSG00000100994	ENST00000216962	D	0.93906	-3.31	4.13	4.13	0.48395	.	0.061034	0.64402	D	0.000003	D	0.94089	0.8105	M	0.68952	2.095	0.58432	D	0.999996	P	0.35192	0.489	P	0.46389	0.515	D	0.94521	0.7727	10	0.66056	D	0.02	-40.7297	13.2648	0.60127	0.0:0.0:0.0:1.0	.	447	P11216	PYGB_HUMAN	A	447	ENSP00000216962:V447A	ENSP00000216962:V447A	V	+	2	0	PYGB	25209685	1.000000	0.71417	0.977000	0.42913	0.923000	0.55619	7.731000	0.84895	1.856000	0.53863	0.379000	0.24179	GTG		0.632	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		C	25261685	T	C	25261685	3	2	418	1	0	0	0	0	1	0	0	0	12863	1696	59	4	1382	4	PYGB	20	25261685	Missense_Mutation	SNP	T	TCGA-61-1722-01A-01D-1556-09	7130219	25261685	37763835	56	22924											
CDH26	60437	genome.wustl.edu	37	20	58562616	58562616	+	Silent	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:58562616T>C	ENST00000244047.5	+	8	1257	c.946T>C	c.(946-948)Ttg>Ctg	p.L316L	CDH26_ENST00000348616.4_Silent_p.L316L			Q8IXH8	CAD26_HUMAN	cadherin 26	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATTCAACATATTGCATGGCAA	0.463																																																0			20											121	97	105					20																	58562616		2203	4300	6503	57996011	SO:0001819	synonymous_variant	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.946T>C	20.37:g.58562616T>C			57996011	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37																																																																																					0.463	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		C	58562616	T	C	58562616	2	2	418	1	0	0	0	0	0	0	0	1	3110	1490	52	4		4	CDH26	20	58562616	Silent	SNP	T	TCGA-61-1722-01A-01D-1556-09	33300931	58562616	4462904	57	22925											
KRTAP13-1	140258	genome.wustl.edu	37	21	31768605	31768605	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr21:31768605G>C	ENST00000355459.2	+	1	214	c.201G>C	c.(199-201)caG>caC	p.Q67H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	67	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCAGCTGCCAGACATCCTATG	0.602																																																0			21											58	59	59					21																	31768605		2203	4300	6503	30690476	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.201G>C	21.37:g.31768605G>C	ENSP00000347635:p.Gln67His		30690476	Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357465	0.24598	.	.	ENSG00000198390	ENST00000355459	T	0.05447	3.44	4.51	4.51	0.55191	.	0.367585	0.19453	N	0.113885	T	0.13157	0.0319	M	0.83312	2.635	0.09310	N	1	B	0.19583	0.037	B	0.24848	0.056	T	0.03514	-1.1029	10	0.54805	T	0.06	.	13.0314	0.58845	0.0:0.0:1.0:0.0	.	67	Q8IUC0	KR131_HUMAN	H	67	ENSP00000347635:Q67H	ENSP00000347635:Q67H	Q	+	3	2	KRTAP13-1	30690476	0.103000	0.21917	0.013000	0.15412	0.029000	0.11900	1.181000	0.32017	2.782000	0.95742	0.557000	0.71058	CAG		0.602	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			C	31768605	G	C	31768605	3	2	418	1	0	0	0	0	1	0	0	0	8522	933	33	3	203	3	KRTAP13-1	21	31768605	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09		31768605	16361290	58	22926											
SYN3	8224	genome.wustl.edu	37	22	32909769	32909769	+	Silent	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr22:32909769G>A	ENST00000358763.2	-	14	1895	c.1653C>T	c.(1651-1653)acC>acT	p.T551T	SYN3_ENST00000332840.5_Silent_p.T551T|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	551	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACGCTGGGAGGTGTCGGATG	0.532																																																0			22											146	114	125					22																	32909769		2203	4300	6503	31239769	SO:0001819	synonymous_variant	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1653C>T	22.37:g.32909769G>A			31239769	B1B1F9	Silent	SNP	ENST00000358763.2	37	CCDS13908.1																																																																																				0.532	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			A	32909769	G	A	32909769	2	1	418	1	0	0	0	0	0	0	0	1	15442	987	35	2		2	SYN3	22	32909769	Silent	SNP	G	TCGA-61-1722-01A-01D-1556-09		32909769	18394797	59	22927											
MTMR8	55613	genome.wustl.edu	37	X	63576113	63576113	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:63576113C>G	ENST00000374852.3	-	3	320	c.253G>C	c.(253-255)Gat>Cat	p.D85H	MTMR8_ENST00000453546.1_Missense_Mutation_p.D85H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	85						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGGTCAGAATCTAAAACAAAG	0.428																																																1	Whole gene deletion(1)	ovary(1)	X											53	45	48					X																	63576113		2203	4300	6503	63492838	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.253G>C	X.37:g.63576113C>G	ENSP00000363985:p.Asp85His		63492838	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.380|9.380	1.072681|1.072681	0.20147|0.20147	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	D;D|.	0.82803|.	-1.65;-1.65|.	2.69|2.69	2.69|2.69	0.31865|0.31865	.|.	0.602490|.	0.14137|.	U|.	0.338982|.	T|T	0.18551|0.18551	0.0445|0.0445	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.30193|.	0.214;0.272|.	B;B|.	0.39738|.	0.043;0.308|.	T|T	0.19976|0.19976	-1.0289|-1.0289	10|5	0.54805|.	T|.	0.06|.	.|.	8.4588|8.4588	0.32915|0.32915	0.0:0.763:0.2369:0.0|0.0:0.763:0.2369:0.0	.|.	85;85|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	H|T	85;85;84|1	ENSP00000394003:D85H;ENSP00000363985:D85H|.	ENSP00000247400:D84H|.	D|R	-|-	1|2	0|0	MTMR8|MTMR8	63492838|63492838	0.409000|0.409000	0.25368|0.25368	0.297000|0.297000	0.24988|0.24988	0.879000|0.879000	0.50718|0.50718	1.253000|1.253000	0.32886|0.32886	1.361000|1.361000	0.45981|0.45981	0.513000|0.513000	0.50165|0.50165	GAT|AGA		0.428	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		G	63576113	C	G	63576113	3	3	418	1	0	0	0	0	1	0	0	0	9949	913	32	3	1909	3	MTMR8	23	63576113	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09		63576113	91694447	60	22928											
DGAT2L6	347516	genome.wustl.edu	37	X	69424950	69424950	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:69424950T>G	ENST00000333026.3	+	7	1108	c.1008T>G	c.(1006-1008)atT>atG	p.I336M		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	336					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.I336I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGCTGACAATTACATAACAGG	0.483																																																1	Substitution - coding silent(1)	large_intestine(1)	X											75	58	64					X																	69424950		2203	4300	6503	69341675	SO:0001583	missense	347516			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.1008T>G	X.37:g.69424950T>G	ENSP00000328036:p.Ile336Met		69341675	Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236850	0.22711	.	.	ENSG00000184210	ENST00000333026	T	0.15487	2.42	4.74	0.499	0.16914	.	0.168840	0.39759	N	0.001264	T	0.37156	0.0993	M	0.85462	2.755	0.09310	N	0.999998	D	0.60160	0.987	D	0.64877	0.93	T	0.15093	-1.0449	10	0.59425	D	0.04	-14.2586	7.6956	0.28592	0.0:0.3949:0.0:0.6051	.	336	Q6ZPD8	DG2L6_HUMAN	M	336	ENSP00000328036:I336M	ENSP00000328036:I336M	I	+	3	3	DGAT2L6	69341675	0.084000	0.21492	0.016000	0.15963	0.148000	0.21650	0.079000	0.14782	-0.205000	0.10219	-0.438000	0.05819	ATT		0.483	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		G	69424950	T	G	69424950	3	3	418	1	0	0	0	0	1	0	0	0	4459	1742	61	5	1034	5	DGAT2L6	23	69424950	Missense_Mutation	SNP	T	TCGA-61-1722-01A-01D-1556-09	5848837	69424950	85845610	61	22929											
DCAF12L1	139170	genome.wustl.edu	37	X	125685995	125685995	+	Silent	SNP	G	G	T	rs369328900		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:125685995G>T	ENST00000371126.1	-	1	839	c.597C>A	c.(595-597)gcC>gcA	p.A199A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	199										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCAGGCGACGGCGAAGATCC	0.667																																																0			X						G		0,3835		0,0,1632,571	35	37	36		597	1.2	0.1	X		36	1,6724		0,1,2426,1871	no	coding-synonymous	DCAF12L1	NM_178470.4		0,1,4058,2442	TT,TG,GG,G		0.0149,0.0,0.0095		199/464	125685995	1,10559	2203	4298	6501	125513676	SO:0001819	synonymous_variant	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.597C>A	X.37:g.125685995G>T			125513676	Q8IYK3	Silent	SNP	ENST00000371126.1	37	CCDS14610.1																																																																																				0.667	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		T	125685995	G	T	125685995	2	4	418	1	0	0	0	0	0	0	0	1	4264	1103	39	3		3	DCAF12L1	23	125685995	Silent	SNP	G	TCGA-61-1722-01A-01D-1556-09	56261045	125685995	29584565	62	22930											
BCORL1	63035	genome.wustl.edu	37	X	129148636	129148636	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:129148636C>T	ENST00000218147.7	+	4	2085	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	BCORL1_ENST00000359304.2_Missense_Mutation_p.R630C|BCORL1_ENST00000303743.5_Missense_Mutation_p.R630C|BCORL1_ENST00000540052.1_Missense_Mutation_p.R630C			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	630	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAAGTCCAACCGCCAGAAGCT	0.597																																																0			X											93	76	82					X																	129148636		2203	4300	6503	128976317	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1888C>T	X.37:g.129148636C>T	ENSP00000218147:p.Arg630Cys		128976317	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.29|19.29	3.799833|3.799833	0.70567|0.70567	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.71698	.|-0.52;-0.07;-0.59;-0.52;0.0	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.36628	.|N	.|0.002490	T|T	0.78717|0.78717	0.4327|0.4327	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.81395|0.81395	-0.0952|-0.0952	5|10	.|0.87932	.|D	.|0	-11.7754|-11.7754	18.3045|18.3045	0.90176|0.90176	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|630;630	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	L|C	65|630;630;630;630;230	.|ENSP00000218147:R630C;ENSP00000307541:R630C;ENSP00000352253:R630C;ENSP00000437775:R630C;ENSP00000399483:R230C	.|ENSP00000218147:R630C	P|R	+|+	2|1	0|0	BCORL1|BCORL1	128976317|128976317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.041000|5.041000	0.64196|0.64196	2.262000|2.262000	0.75019|0.75019	0.436000|0.436000	0.28706|0.28706	CCG|CGC		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129148636	C	T	129148636	3	4	418	1	0	0	0	0	1	0	0	0	1387	652	23	1	1898	1	BCORL1	23	129148636	Missense_Mutation	SNP	C	TCGA-61-1722-01A-01D-1556-09	3462641	129148636	26121924	63	22931											
GPR112	139378	genome.wustl.edu	37	X	135431845	135431845	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:135431845G>A	ENST00000394143.1	+	6	6271	c.5980G>A	c.(5980-5982)Ggt>Agt	p.G1994S	GPR112_ENST00000287534.4_Missense_Mutation_p.G1931S|GPR112_ENST00000370652.1_Missense_Mutation_p.G1994S|GPR112_ENST00000394141.1_Missense_Mutation_p.G1789S|GPR112_ENST00000412101.1_Missense_Mutation_p.G1789S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1994					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTCTTTCTGGTGCCACTTC	0.463																																																0			X											100	91	94					X																	135431845		2203	4299	6502	135259511	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5980G>A	X.37:g.135431845G>A	ENSP00000377699:p.Gly1994Ser		135259511	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	0.543	-0.852839	0.02630	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.28666	1.63;1.63;1.6;1.74;1.6	2.88	1.98	0.26296	.	.	.	.	.	T	0.16854	0.0405	N	0.24115	0.695	0.09310	N	1	B;B;B	0.25312	0.092;0.123;0.075	B;B;B	0.24269	0.052;0.023;0.01	T	0.32188	-0.9916	9	0.12766	T	0.61	.	6.3967	0.21616	0.1618:0.0:0.8382:0.0	.	1931;1789;1994	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	1994;1994;1789;1931;1789	ENSP00000377699:G1994S;ENSP00000359686:G1994S;ENSP00000416526:G1789S;ENSP00000287534:G1931S;ENSP00000377697:G1789S	ENSP00000287534:G1931S	G	+	1	0	GPR112	135259511	0.816000	0.29132	0.039000	0.18376	0.126000	0.20510	0.650000	0.24858	0.391000	0.25143	0.530000	0.56133	GGT		0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135431845	G	A	135431845	3	1	418	1	0	0	0	0	1	0	0	0	6629	1348	47	2	5990	2	GPR112	23	135431845	Missense_Mutation	SNP	G	TCGA-61-1722-01A-01D-1556-09	6283209	135431845	19838715	64	22932											
PCSK9	255738	genome.wustl.edu	37	1	55518362	55518362	+	Missense_Mutation	SNP	G	G	C	rs150169598		TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr1:55518362G>C	ENST00000302118.5	+	5	987	c.697G>C	c.(697-699)Gtg>Ctg	p.V233L	PCSK9_ENST00000543384.1_Missense_Mutation_p.V33L|PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	233	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCTGGCAGGGGTGGTCAGCGG	0.632																																					Pancreas(137;1454 1827 5886 22361 42375)											0			1											34	35	35					1																	55518362		2203	4299	6502	55290950	SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.697G>C	1.37:g.55518362G>C	ENSP00000303208:p.Val233Leu		55290950	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199013	0.58126	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.86497	-2.13;-2.13	4.02	3.07	0.35406	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.64402	D	0.000002	T	0.79405	0.4440	N	0.12182	0.205	0.41055	D	0.985336	D	0.55800	0.973	P	0.48598	0.583	T	0.75947	-0.3138	10	0.25751	T	0.34	-13.4965	13.3053	0.60349	0.0:0.1604:0.8395:0.0	.	233	Q8NBP7	PCSK9_HUMAN	L	233;33	ENSP00000303208:V233L;ENSP00000441859:V33L	ENSP00000303208:V233L	V	+	1	0	PCSK9	55290950	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	4.318000	0.59190	0.609000	0.30018	0.563000	0.77884	GTG		0.632	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		C	55518362	G	C	55518362	3	2	419	1	0	0	0	0	1	0	0	0	11606	1261	44	3	715	3	PCSK9	1	55518362	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09		55518362	193732259	1	22933											
HBXIP	10542	genome.wustl.edu	37	1	110950337	110950337	+	5'Flank	SNP	C	C	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr1:110950337C>G	ENST00000602318.1	-	0	0				LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.R51P|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											GGGCGTGGACCGTAACGGCGC	0.612																																																0			1											88	74	79					1																	110950337		2203	4300	6503	110751860	SO:0001631	upstream_gene_variant	10542			AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568		1.37:g.110950337C>G	Exception_encountered		110751860	Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37		.	.	.	.	.	.	.	.	.	.	C	8.918	0.960480	0.18583	.	.	ENSG00000134248	ENST00000256644	.	.	.	4.14	-8.28	0.01013	.	0.813726	0.09881	N	0.743674	T	0.04679	0.0127	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19095	-1.0316	5	.	.	.	4.0526	1.154	0.01792	0.2078:0.151:0.3479:0.2933	.	.	.	.	P	51	.	.	R	-	2	0	HBXIP	110751860	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.503000	0.00449	-2.164000	0.00782	-0.972000	0.02603	CGG		0.612	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		G	110950337	C	G	110950337	1	3	419	0	1	0	0	0	0	0	0	0	6988	652	23	3		3	HBXIP	1	110950337	5'Flank	SNP	C	TCGA-61-1725-01A-01W-0639-09	55431975	110950337	138300284	2	22934											
ZBTB37	84614	genome.wustl.edu	37	1	173839515	173839515	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr1:173839515C>A	ENST00000367701.5	+	2	343	c.152C>A	c.(151-153)gCt>gAt	p.A51D	GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367704.1_Missense_Mutation_p.A51D|ZBTB37_ENST00000432989.1_Missense_Mutation_p.A51D|ZBTB37_ENST00000367702.1_Missense_Mutation_p.A51D|ZBTB37_ENST00000427304.1_Missense_Mutation_p.A51D			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	51	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GTGGTGCTGGCTGCCAGCTCC	0.498																																																0			1											116	114	114					1																	173839515		2203	4300	6503	172106138	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.152C>A	1.37:g.173839515C>A	ENSP00000356674:p.Ala51Asp		172106138	Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754022	0.89843	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.6	5.6	0.85130	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.92374	0.7580	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95217	0.8330	10	0.87932	D	0	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	51;51	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	D	51	ENSP00000356677:A51D;ENSP00000415293:A51D;ENSP00000409408:A51D;ENSP00000356675:A51D;ENSP00000356674:A51D	ENSP00000356674:A51D	A	+	2	0	ZBTB37	172106138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.652000	0.90054	0.563000	0.77884	GCT		0.498	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		A	173839515	C	A	173839515	3	1	419	1	0	0	0	0	1	0	0	0	17538	797	28	3	154	3	ZBTB37	1	173839515	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09	62889178	173839515	75411106	3	22935											
HMCN1	83872	genome.wustl.edu	37	1	186007072	186007072	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr1:186007072C>G	ENST00000271588.4	+	37	5985	c.5756C>G	c.(5755-5757)cCt>cGt	p.P1919R	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1919R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1919	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAGAACCACCTAGTCTGGAA	0.388																																																0			1											112	106	108					1																	186007072		2203	4300	6503	184273695	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5756C>G	1.37:g.186007072C>G	ENSP00000271588:p.Pro1919Arg		184273695	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062789	0.55432	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80909	-1.43;-1.43	5.52	5.52	0.82312	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93609	0.7959	H	0.96662	3.86	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95239	0.8349	10	0.66056	D	0.02	.	19.037	0.92983	0.0:1.0:0.0:0.0	.	1919	Q96RW7	HMCN1_HUMAN	R	1919	ENSP00000271588:P1919R;ENSP00000356462:P1919R	ENSP00000271588:P1919R	P	+	2	0	HMCN1	184273695	1.000000	0.71417	0.958000	0.39756	0.015000	0.08874	5.321000	0.65846	2.597000	0.87782	0.555000	0.69702	CCT		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186007072	C	G	186007072	3	3	419	1	0	0	0	0	1	0	0	0	7220	681	24	3	5902	3	HMCN1	1	186007072	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09	12167557	186007072	63243549	4	22936											
ICOS	29851	genome.wustl.edu	37	2	204822583	204822583	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr2:204822583C>G	ENST00000316386.6	+	4	630	c.563C>G	c.(562-564)aCa>aGa	p.T188R	ICOS_ENST00000435193.1_Intron	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	188					immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6						GCAGTGAACACAGCCAAAAAA	0.403																																																0			2											93	90	91					2																	204822583		2203	4300	6503	204530828	SO:0001583	missense	29851			AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"CD molecules"	5351	protein-coding gene	gene with protein product	"activation-inducible lymphocyte immunomediatory molecule"	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.563C>G	2.37:g.204822583C>G	ENSP00000319476:p.Thr188Arg		204530828	Q8N6W8	Missense_Mutation	SNP	ENST00000316386.6	37	CCDS2363.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580304	0.65992	.	.	ENSG00000163600	ENST00000316386	.	.	.	5.73	5.73	0.89815	.	0.179356	0.38837	N	0.001556	T	0.74030	0.3663	M	0.68317	2.08	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.58454	0.839;0.839	T	0.74740	-0.3563	9	0.52906	T	0.07	-12.7433	15.3846	0.74687	0.0:1.0:0.0:0.0	.	188;188	Q53QY6;Q9Y6W8	.;ICOS_HUMAN	R	188	.	ENSP00000319476:T188R	T	+	2	0	ICOS	204530828	0.992000	0.36948	0.738000	0.30950	0.677000	0.39632	3.940000	0.56599	2.711000	0.92665	0.467000	0.42956	ACA		0.403	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1	NM_012092		G	204822583	C	G	204822583	3	3	419	1	0	0	0	0	1	0	0	0	7486	478	17	3	577	3	ICOS	2	204822583	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09		204822583	38376790	5	22937											
ABCA12	26154	genome.wustl.edu	37	2	215865725	215865725	+	Silent	SNP	A	A	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr2:215865725A>T	ENST00000272895.7	-	22	3102	c.2883T>A	c.(2881-2883)ccT>ccA	p.P961P	ABCA12_ENST00000389661.4_Silent_p.P643P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	961					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTGTTAGAAGGAAGCTTAA	0.403																																					Ovarian(66;664 1488 5121 34295)											0			2											56	59	58					2																	215865725		2202	4300	6502	215573970	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2883T>A	2.37:g.215865725A>T			215573970	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		T	215865725	A	T	215865725	2	4	419	1	0	0	0	0	0	0	0	1	30	59	3	5		5	ABCA12	2	215865725	Silent	SNP	A	TCGA-61-1725-01A-01W-0639-09	11043142	215865725	27333648	6	22938											
SP100	6672	genome.wustl.edu	37	2	231314307	231314307	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr2:231314307G>C	ENST00000264052.5	+	7	973	c.618G>C	c.(616-618)gaG>gaC	p.E206D	SP100_ENST00000341950.4_Missense_Mutation_p.E206D|SP100_ENST00000340126.4_Missense_Mutation_p.E206D|SP100_ENST00000427101.2_Missense_Mutation_p.E181D|SP100_ENST00000409341.1_Missense_Mutation_p.E206D|SP100_ENST00000409112.1_Missense_Mutation_p.E206D|SP100_ENST00000409897.1_Missense_Mutation_p.E171D|SP100_ENST00000409824.1_Missense_Mutation_p.E181D	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	206					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GACTCTCAGAGCACCCCTGTG	0.438																																																0			2											90	80	83					2																	231314307		2203	4300	6503	231022551	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.618G>C	2.37:g.231314307G>C	ENSP00000264052:p.Glu206Asp		231022551	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	3.958	-0.010818	0.07727	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;D;T;T;T	0.81739	2.1;2.0;2.0;1.98;-1.53;0.03;1.97;1.99	3.86	-1.85	0.07784	.	1.204810	0.06443	N	0.726278	T	0.57577	0.2063	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B;B	0.21225	0.041;0.014;0.024;0.023;0.053;0.014;0.024;0.023	B;B;B;B;B;B;B;B	0.23419	0.046;0.008;0.021;0.019;0.021;0.008;0.021;0.019	T	0.40270	-0.9572	10	0.13853	T	0.58	.	0.8673	0.01206	0.2281:0.3225:0.2689:0.1805	.	181;206;171;206;206;206;181;206	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	D	206;181;181;206;206;206;206;171	ENSP00000264052:E206D;ENSP00000399389:E181D;ENSP00000387311:E181D;ENSP00000386404:E206D;ENSP00000386427:E206D;ENSP00000343023:E206D;ENSP00000342729:E206D;ENSP00000386998:E171D	ENSP00000264052:E206D	E	+	3	2	SP100	231022551	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.130000	0.10498	-0.364000	0.08088	0.655000	0.94253	GAG		0.438	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		C	231314307	G	C	231314307	3	2	419	1	0	0	0	0	1	0	0	0	14963	962	34	3	644	3	SP100	2	231314307	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	15448582	231314307	11885066	7	22939											
ABHD10	55347	genome.wustl.edu	37	3	111705845	111705845	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr3:111705845G>T	ENST00000273359.3	+	4	550	c.523G>T	c.(523-525)Gta>Tta	p.V175L	ABHD10_ENST00000494817.1_Missense_Mutation_p.V175L|ABHD10_ENST00000534857.1_Missense_Mutation_p.V18L	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	175					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						TCTTATTGGTGTAGCTACAGC	0.403																																																0			3											134	127	129					3																	111705845		2203	4300	6503	113188535	SO:0001583	missense	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.523G>T	3.37:g.111705845G>T	ENSP00000273359:p.Val175Leu		113188535	B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340643	0.60963	.	.	ENSG00000144827	ENST00000534857;ENST00000273359;ENST00000494817	T;T;T	0.67523	1.02;-0.27;-0.27	5.78	-0.91	0.10511	.	0.226724	0.42682	D	0.000665	T	0.45216	0.1331	N	0.05510	-0.035	0.21915	N	0.999479	P	0.34977	0.478	B	0.41236	0.351	T	0.45804	-0.9236	10	0.22109	T	0.4	-13.8237	11.2156	0.48825	0.5543:0.0:0.4457:0.0	.	175	Q9NUJ1	ABHDA_HUMAN	L	18;175;175	ENSP00000442932:V18L;ENSP00000273359:V175L;ENSP00000418973:V175L	ENSP00000273359:V175L	V	+	1	0	ABHD10	113188535	0.173000	0.23056	0.151000	0.22473	0.926000	0.56050	0.129000	0.15830	-0.145000	0.11294	0.591000	0.81541	GTA		0.403	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		T	111705845	G	T	111705845	3	4	419	1	0	0	0	0	1	0	0	0	74	1377	48	3	537	3	ABHD10	3	111705845	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09		111705845	86316585	8	22940											
CCDC80	151887	genome.wustl.edu	37	3	112357087	112357087	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr3:112357087T>A	ENST00000206423.3	-	2	2619	c.1666A>T	c.(1666-1668)Aat>Tat	p.N556Y	CCDC80_ENST00000439685.2_Missense_Mutation_p.N556Y|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	556	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						gcgttctcattcttcatcttt	0.393																																																0			3											125	106	112					3																	112357087		2203	4300	6503	113839777	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1666A>T	3.37:g.112357087T>A	ENSP00000206423:p.Asn556Tyr		113839777	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545478	0.45280	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.47528	0.84;0.84	5.78	3.37	0.38596	.	0.874370	0.10429	N	0.675697	T	0.33702	0.0872	N	0.19112	0.55	0.34025	D	0.653156	P;P;P	0.42620	0.785;0.679;0.679	B;B;B	0.41723	0.351;0.365;0.191	T	0.43294	-0.9400	10	0.62326	D	0.03	-5.7874	6.5188	0.22262	0.0:0.0819:0.1588:0.7593	.	567;556;556	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	Y	556;556;184	ENSP00000206423:N556Y;ENSP00000411814:N556Y	ENSP00000206423:N556Y	N	-	1	0	CCDC80	113839777	0.995000	0.38212	0.987000	0.45799	0.893000	0.52053	0.854000	0.27791	0.973000	0.38340	0.454000	0.30748	AAT		0.393	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		A	112357087	T	A	112357087	3	1	419	1	0	0	0	0	1	0	0	0	2854	1783	62	5	1214	5	CCDC80	3	112357087	Missense_Mutation	SNP	T	TCGA-61-1725-01A-01W-0639-09	651242	112357087	85665343	9	22941											
KIAA1407	57577	genome.wustl.edu	37	3	113697706	113697706	+	Splice_Site	SNP	T	T	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr3:113697706T>G	ENST00000295878.3	-	15	2605	c.2459A>C	c.(2458-2460)cAg>cCg	p.Q820P	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	820										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGTCCTTACCTGTAGCCAGCT	0.403																																																0			3											197	193	194					3																	113697706		2203	4300	6503	115180396	SO:0001630	splice_region_variant	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2460+1A>C	3.37:g.113697706T>G			115180396	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257845	0.39896	.	.	ENSG00000163617	ENST00000295878	T	0.34472	1.36	4.71	2.29	0.28610	.	0.364091	0.31134	N	0.008195	T	0.38904	0.1058	M	0.65975	2.015	0.80722	D	1	D	0.54207	0.965	P	0.47981	0.563	T	0.20042	-1.0287	10	0.66056	D	0.02	.	6.6058	0.22724	0.0:0.2131:0.0:0.7869	.	820	Q8NCU4	K1407_HUMAN	P	820	ENSP00000295878:Q820P	ENSP00000295878:Q820P	Q	-	2	0	KIAA1407	115180396	0.987000	0.35691	0.910000	0.35882	0.448000	0.32197	1.477000	0.35431	0.382000	0.24878	0.454000	0.30748	CAG		0.403	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	Missense_Mutation	G	113697706	T	G	113697706	5	3	419	1	0	0	0	0	0	0	1	0	8229	1594	55	5	363	5	KIAA1407	3	113697706	Splice_Site	SNP	T	TCGA-61-1725-01A-01W-0639-09	1340619	113697706	84324724	10	22942											
TMCC1	23023	genome.wustl.edu	37	3	129370483	129370483	+	Missense_Mutation	SNP	C	C	G	rs201969186		TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr3:129370483C>G	ENST00000393238.3	-	6	2143	c.1803G>C	c.(1801-1803)ttG>ttC	p.L601F	TMCC1_ENST00000426664.2_Missense_Mutation_p.L487F|TMCC1_ENST00000432054.2_Missense_Mutation_p.L277F|TMCC1_ENST00000329333.5_Missense_Mutation_p.L422F	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	601						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGACAAAGACCAAAAGGACTG	0.517																																																0			3											161	142	149					3																	129370483		2203	4300	6503	130853173	SO:0001583	missense	23023			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1803G>C	3.37:g.129370483C>G	ENSP00000376930:p.Leu601Phe		130853173	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844432	0.32606	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.26	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.83335	0.5232	M	0.89904	3.07	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	T	0.83324	-0.0016	10	0.87932	D	0	-9.674	3.9734	0.09464	0.2553:0.5263:0.1301:0.0883	.	422;601	B4DE04;O94876	.;TMCC1_HUMAN	F	277;601;487;422	ENSP00000404711:L277F;ENSP00000376930:L601F;ENSP00000389892:L487F;ENSP00000327349:L422F	ENSP00000327349:L422F	L	-	3	2	TMCC1	130853173	0.991000	0.36638	0.989000	0.46669	0.581000	0.36288	0.316000	0.19469	1.311000	0.45024	0.650000	0.86243	TTG		0.517	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		G	129370483	C	G	129370483	3	3	419	1	0	0	0	0	1	0	0	0	15992	593	21	3	162	3	TMCC1	3	129370483	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09	15672777	129370483	68651947	11	22943											
GPR160	26996	genome.wustl.edu	37	3	169802395	169802395	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr3:169802395G>C	ENST00000355897.5	+	4	1243	c.635G>C	c.(634-636)aGg>aCg	p.R212T		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CAGGCTATCAGGATAACTTCC	0.333																																																0			3											93	92	92					3																	169802395		2203	4300	6503	171285089	SO:0001583	missense	26996			AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"GPCR / Class A : Orphans"	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.635G>C	3.37:g.169802395G>C	ENSP00000348161:p.Arg212Thr		171285089	D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	G	4.677	0.125954	0.08931	.	.	ENSG00000173890	ENST00000355897	.	.	.	5.7	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.249646	0.35436	N	0.003215	T	0.35451	0.0932	L	0.59436	1.845	0.09310	N	1	B	0.26195	0.144	B	0.27608	0.081	T	0.28038	-1.0056	9	0.45353	T	0.12	.	6.0186	0.19616	0.2741:0.1248:0.6011:0.0	.	212	Q9UJ42	GP160_HUMAN	T	212	.	ENSP00000348161:R212T	R	+	2	0	GPR160	171285089	0.581000	0.26741	0.427000	0.26684	0.012000	0.07955	1.589000	0.36644	0.769000	0.33313	-0.137000	0.14449	AGG		0.333	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		C	169802395	G	C	169802395	3	2	419	1	0	0	0	0	1	0	0	0	6664	1000	35	3	637	3	GPR160	3	169802395	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	40431912	169802395	28220035	12	22944											
CENPE	1062	genome.wustl.edu	37	4	104104014	104104014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr4:104104014G>A	ENST00000265148.3	-	11	957	c.868C>T	c.(868-870)Cga>Tga	p.R290*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.R290*|CENPE_ENST00000509120.1_5'Flank	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	290	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGAGAATTCGTGTTAACTTG	0.353																																																0			4											109	112	111					4																	104104014		2202	4300	6502	104323463	SO:0001587	stop_gained	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.868C>T	4.37:g.104104014G>A	ENSP00000265148:p.Arg290*		104323463	A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	36	5.839534	0.97009	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	.	.	.	5.05	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0889	0.30788	0.0732:0.0:0.6548:0.2719	.	.	.	.	X	290	.	ENSP00000265148:R290X	R	-	1	2	CENPE	104323463	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.515000	0.45512	1.337000	0.45525	-0.157000	0.13467	CGA		0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104104014	G	A	104104014	4	1	419	1	0	0	0	0	0	1	0	0	3230	1153	40	1	7393	1	CENPE	4	104104014	Nonsense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09		104104014	87050262	13	22945											
FASTKD3	79072	genome.wustl.edu	37	5	7867012	7867012	+	Silent	SNP	A	A	C			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr5:7867012A>C	ENST00000264669.5	-	2	1321	c.1185T>G	c.(1183-1185)acT>acG	p.T395T	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	395					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCAAACAAAAGTTTCTGCCA	0.423																																																0			5											59	61	60					5																	7867012		2203	4300	6503	7920012	SO:0001819	synonymous_variant	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1185T>G	5.37:g.7867012A>C			7920012	Q9BVD3	Silent	SNP	ENST00000264669.5	37	CCDS3873.1																																																																																				0.423	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		C	7867012	A	C	7867012	2	2	419	1	0	0	0	0	0	0	0	1	5687	59	3	5		5	FASTKD3	5	7867012	Silent	SNP	A	TCGA-61-1725-01A-01W-0639-09		7867012	173048248	14	22946											
RAD17	5884	genome.wustl.edu	37	5	68682044	68682044	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr5:68682044A>T	ENST00000509734.1	+	9	1447	c.769A>T	c.(769-771)Ata>Tta	p.I257L	RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Missense_Mutation_p.I246L|RAD17_ENST00000358030.2_Missense_Mutation_p.I81L|RAD17_ENST00000305138.4_Missense_Mutation_p.I246L|RAD17_ENST00000282891.6_Missense_Mutation_p.I160L|RAD17_ENST00000361732.2_Missense_Mutation_p.I246L|RAD17_ENST00000380774.3_Missense_Mutation_p.I257L|RAD17_ENST00000354312.3_Missense_Mutation_p.I246L|RAD17_ENST00000354868.5_Missense_Mutation_p.I246L|RAD17_ENST00000521422.1_Missense_Mutation_p.I81L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	257					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TCTTATATTTATAATCTCGGA	0.313								Other conserved DNA damage response genes																																								0			5											81	89	86					5																	68682044		2201	4295	6496	68717800	SO:0001583	missense	5884			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.769A>T	5.37:g.68682044A>T	ENSP00000426191:p.Ile257Leu		68717800	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626418	0.66901	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8	5.15	2.77	0.32553	ATPase, AAA+ type, core (1);	0.152584	0.64402	D	0.000017	T	0.43144	0.1234	M	0.89163	3.01	0.47698	D	0.999495	P;D;D	0.53745	0.947;0.962;0.962	P;P;P	0.50378	0.566;0.639;0.508	T	0.42275	-0.9461	10	0.48119	T	0.1	-22.0547	10.7938	0.46449	0.8518:0.0:0.1482:0.0	.	257;160;246	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	L	246;257;246;81;246;246;246;160;81;257	ENSP00000355226:I246L;ENSP00000426191:I257L;ENSP00000346938:I246L;ENSP00000427743:I81L;ENSP00000346271:I246L;ENSP00000311227:I246L;ENSP00000303134:I246L;ENSP00000282891:I160L;ENSP00000350725:I81L;ENSP00000370151:I257L	ENSP00000282891:I160L	I	+	1	0	RAD17	68717800	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	4.610000	0.61155	0.066000	0.16515	-1.463000	0.01021	ATA		0.313	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		T	68682044	A	T	68682044	3	4	419	1	0	0	0	0	1	0	0	0	12982	449	16	5	808	5	RAD17	5	68682044	Missense_Mutation	SNP	A	TCGA-61-1725-01A-01W-0639-09	60815032	68682044	112233216	15	22947											
MEGF10	84466	genome.wustl.edu	37	5	126771109	126771109	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr5:126771109A>G	ENST00000274473.6	+	17	2299	c.2032A>G	c.(2032-2034)Aac>Gac	p.N678D	MEGF10_ENST00000503335.2_Missense_Mutation_p.N678D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	678	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGCACCAACAACGGAACCTG	0.443																																																0			5											113	94	101					5																	126771109		2203	4300	6503	126799008	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2032A>G	5.37:g.126771109A>G	ENSP00000274473:p.Asn678Asp		126799008	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	33	5.225751	0.95173	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	D;D	0.94497	-3.44;-3.44	6.04	6.04	0.98038	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95931	0.8675	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96217	0.9157	10	0.59425	D	0.04	-21.7724	16.5885	0.84745	1.0:0.0:0.0:0.0	.	678	Q96KG7	MEG10_HUMAN	D	678	ENSP00000423354:N678D;ENSP00000274473:N678D	ENSP00000274473:N678D	N	+	1	0	MEGF10	126799008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.317000	0.78254	0.460000	0.39030	AAC		0.443	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		G	126771109	A	G	126771109	3	3	419	1	0	0	0	0	1	0	0	0	9460	130	5	4	2090	4	MEGF10	5	126771109	Missense_Mutation	SNP	A	TCGA-61-1725-01A-01W-0639-09	58089065	126771109	54144151	16	22948											
ANKHD1	54882	genome.wustl.edu	37	5	139909047	139909047	+	Silent	SNP	C	C	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr5:139909047C>T	ENST00000360839.2	+	29	6670	c.6516C>T	c.(6514-6516)ggC>ggT	p.G2172G	ANKHD1_ENST00000544120.1_Silent_p.G555G|ANKHD1_ENST00000297183.6_Silent_p.G2172G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G2172G|SNORD45_ENST00000363181.1_RNA	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2172						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTCAAGGCCCACCAGCTG	0.443																																																0			5											134	136	135					5																	139909047		2203	4300	6503	139889231	SO:0001819	synonymous_variant	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6516C>T	5.37:g.139909047C>T			139889231	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	3.377	-0.127113	0.06795	.	.	ENSG00000131503	ENST00000435794;ENST00000432301	.	.	.	5.35	0.583	0.17417	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48636	-0.9018	4	.	.	.	.	9.0133	0.36155	0.0:0.4943:0.0:0.5057	.	.	.	.	S	663;623	.	.	P	+	1	0	ANKHD1	139889231	0.967000	0.33354	1.000000	0.80357	0.978000	0.69477	0.077000	0.14738	0.202000	0.20498	0.591000	0.81541	CCC		0.443	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		T	139909047	C	T	139909047	2	4	419	1	0	0	0	0	0	0	0	1	628	726	26	2		2	ANKHD1	5	139909047	Silent	SNP	C	TCGA-61-1725-01A-01W-0639-09	13137938	139909047	41006213	17	22949											
PCDHB7	56129	genome.wustl.edu	37	5	140553110	140553110	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr5:140553110G>T	ENST00000231137.3	+	1	868	c.694G>T	c.(694-696)Gtt>Ttt	p.V232F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCATTCTGGTTCTAGACGT	0.552																																																0			5											59	62	61					5																	140553110		2203	4300	6503	140533294	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.694G>T	5.37:g.140553110G>T	ENSP00000231137:p.Val232Phe		140533294	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134353	0.37630	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.68331	-0.32	4.61	4.61	0.57282	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.88738	0.6518	H	0.99726	4.73	0.46376	D	0.999012	D	0.67145	0.996	D	0.76071	0.987	D	0.91317	0.5079	9	0.87932	D	0	.	9.72	0.40297	0.1383:0.0:0.8617:0.0	.	232	Q9Y5E2	PCDB7_HUMAN	F	232;15	ENSP00000231137:V232F	ENSP00000231137:V232F	V	+	1	0	PCDHB7	140533294	1.000000	0.71417	0.040000	0.18447	0.009000	0.06853	4.166000	0.58203	2.248000	0.74166	0.655000	0.94253	GTT		0.552	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140553110	G	T	140553110	3	4	419	1	0	0	0	0	1	0	0	0	11547	1261	44	3	696	3	PCDHB7	5	140553110	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	644063	140553110	40362150	18	22950											
PCDHGA3	56112	genome.wustl.edu	37	5	140723892	140723892	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr5:140723892C>G	ENST00000253812.6	+	1	292	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	98	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGCGCTCAGATCCCGCT	0.453																																																0			5											39	45	43					5																	140723892		2119	4277	6396	140704076	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.292C>G	5.37:g.140723892C>G	ENSP00000253812:p.Gln98Glu		140704076	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.819582	0.00595	.	.	ENSG00000254245	ENST00000253812	T	0.27256	1.68	5.65	2.69	0.31865	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.601698	0.12405	U	0.471823	T	0.40247	0.1109	M	0.76002	2.32	0.09310	N	1	B;B	0.28400	0.021;0.21	B;P	0.46208	0.034;0.507	T	0.46359	-0.9197	10	0.18710	T	0.47	.	9.5666	0.39402	0.3467:0.424:0.2293:0.0	.	98;98	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	E	98	ENSP00000253812:Q98E	ENSP00000253812:Q98E	Q	+	1	0	PCDHGA3	140704076	0.000000	0.05858	0.009000	0.14445	0.165000	0.22458	-0.598000	0.05706	0.830000	0.34757	-0.176000	0.13171	CAG		0.453	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		G	140723892	C	G	140723892	3	3	419	1	0	0	0	0	1	0	0	0	11555	827	29	3	294	3	PCDHGA3	5	140723892	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09	170782	140723892	40191368	19	22951											
PCDH1	5097	genome.wustl.edu	37	5	141243231	141243231	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr5:141243231C>G	ENST00000394536.3	-	3	2804	c.2665G>C	c.(2665-2667)Ggt>Cgt	p.G889R	PCDH1_ENST00000456271.1_Missense_Mutation_p.G877R|PCDH1_ENST00000536585.1_Missense_Mutation_p.G867R|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Missense_Mutation_p.G889R	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	889					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCTTCTTACCAGCCTGGTAA	0.592																																					Ovarian(132;1609 1739 4190 14731 45037)											0			5											153	154	154					5																	141243231		2203	4300	6503	141223415	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2665G>C	5.37:g.141243231C>G	ENSP00000378043:p.Gly889Arg		141223415	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	17.18	3.322680	0.60634	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	4.75	4.75	0.60458	Protocadherin (1);	0.000000	0.52532	D	0.000068	T	0.60392	0.2265	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65076	-0.6256	10	0.87932	D	0	.	15.2735	0.73723	0.0:1.0:0.0:0.0	.	889;889	Q08174;Q08174-2	PCDH1_HUMAN;.	R	889;889;877;900;867	ENSP00000287008:G889R;ENSP00000378043:G889R;ENSP00000403497:G877R;ENSP00000350122:G900R;ENSP00000438825:G867R	ENSP00000287008:G889R	G	-	1	0	PCDH1	141223415	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.896000	0.69822	2.460000	0.83146	0.457000	0.33378	GGT		0.592	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		G	141243231	C	G	141243231	3	3	419	1	0	0	0	0	1	0	0	0	11506	594	21	3	1144	3	PCDH1	5	141243231	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09	519339	141243231	39672029	20	22952											
PPARGC1B	133522	genome.wustl.edu	37	5	149216560	149216560	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr5:149216560C>A	ENST00000309241.5	+	8	2574	c.2542C>A	c.(2542-2544)Ctc>Atc	p.L848I	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.L809I|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.L848I|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.L784I	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	848					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAACCGGCAGCTCTGTTCCCG	0.617																																																0			5											77	81	79					5																	149216560		2203	4300	6503	149196753	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2542C>A	5.37:g.149216560C>A	ENSP00000312649:p.Leu848Ile		149196753	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.567240|2.567240	0.45694|0.45694	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000434684|ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	.|T;T;T;T	.|0.36520	.|1.25;1.25;1.25;1.25	5.8|5.8	4.94|4.94	0.65067|0.65067	.|.	.|0.336631	.|0.24523	.|N	.|0.037798	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.39397|0.39397	1.21|1.21	0.24752|0.24752	N|N	0.992975|0.992975	.|P;P;D;P;P	.|0.53462	.|0.893;0.867;0.96;0.828;0.893	.|B;B;P;B;B	.|0.48425	.|0.438;0.359;0.577;0.254;0.438	T|T	0.12116|0.12116	-1.0560|-1.0560	5|10	.|0.23302	.|T	.|0.38	-13.1212|-13.1212	7.8494|7.8494	0.29446|0.29446	0.0:0.7827:0.0:0.2173|0.0:0.7827:0.0:0.2173	.|.	.|827;827;809;848;848	.|Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.|.;.;.;PRGC2_HUMAN;.	D|I	534|809;848;848;784	.|ENSP00000353638:L809I;ENSP00000377855:L848I;ENSP00000312649:L848I;ENSP00000384403:L784I	.|ENSP00000312649:L848I	A|L	+|+	2|1	0|0	PPARGC1B|PPARGC1B	149196753|149196753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.693000|0.693000	0.40251|0.40251	1.574000|1.574000	0.36482|0.36482	1.460000|1.460000	0.47911|0.47911	0.462000|0.462000	0.41574|0.41574	GCT|CTC		0.617	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		A	149216560	C	A	149216560	3	1	419	1	0	0	0	0	1	0	0	0	12301	797	28	3	2579	3	PPARGC1B	5	149216560	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09	7973329	149216560	31698700	21	22953											
FAT2	2196	genome.wustl.edu	37	5	150924642	150924642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr5:150924642G>A	ENST00000261800.5	-	9	6058	c.6046C>T	c.(6046-6048)Cag>Tag	p.Q2016*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2016	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGACTGGACCATATGA	0.507																																																0			5											105	105	105					5																	150924642		2203	4300	6503	150904835	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6046C>T	5.37:g.150924642G>A	ENSP00000261800:p.Gln2016*		150904835	O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	44	10.989277	0.99499	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.18	-2.09	0.07232	.	0.608291	0.15436	N	0.262452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	13.8765	0.63655	0.0:0.0815:0.7366:0.1819	.	.	.	.	X	2016	.	ENSP00000261800:Q2016X	Q	-	1	0	FAT2	150904835	0.956000	0.32656	0.013000	0.15412	0.987000	0.75469	1.860000	0.39428	-0.294000	0.08973	0.561000	0.74099	CAG		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150924642	G	A	150924642	4	1	419	1	0	0	0	0	0	1	0	0	5690	1357	47	2	7063	2	FAT2	5	150924642	Nonsense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	1708082	150924642	29990618	22	22954											
HIST1H2BB	3018	genome.wustl.edu	37	6	26043811	26043811	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr6:26043811C>G	ENST00000357905.2	-	1	74	c.75G>C	c.(73-75)aaG>aaC	p.K25N	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	25					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TCTTACCATCCTTCTTCTGCG	0.488																																																0			6											147	141	143					6																	26043811		2203	4300	6503	26151790	SO:0001583	missense	3018			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"Histones / Replication-dependent"	4751	protein-coding gene	gene with protein product		602803	"H2B histone family, member F", "histone 1, H2bb"	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.75G>C	6.37:g.26043811C>G	ENSP00000350580:p.Lys25Asn		26151790	Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	C	1.671	-0.508876	0.04231	.	.	ENSG00000196226	ENST00000357905	T	0.21734	1.99	5.34	-4.25	0.03766	Histone-fold (2);	0.000000	0.64402	U	0.000012	T	0.11879	0.0289	M	0.90019	3.08	0.21915	N	0.999474	P	0.37573	0.6	B	0.28011	0.085	T	0.26189	-1.0110	10	0.72032	D	0.01	.	13.6905	0.62542	0.0:0.4022:0.0:0.5978	.	25	P33778	H2B1B_HUMAN	N	25	ENSP00000350580:K25N	ENSP00000350580:K25N	K	-	3	2	HIST1H2BB	26151790	0.058000	0.20735	0.002000	0.10522	0.001000	0.01503	-0.536000	0.06135	-0.891000	0.03940	-0.345000	0.07892	AAG		0.488	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		G	26043811	C	G	26043811	3	3	419	1	0	0	0	0	1	0	0	0	7141	680	24	3	309	3	HIST1H2BB	6	26043811	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09		26043811	145071256	23	22955											
PHIP	55023	genome.wustl.edu	37	6	79650905	79650905	+	Silent	SNP	C	C	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr6:79650905C>T	ENST00000275034.4	-	40	5138	c.4971G>A	c.(4969-4971)aaG>aaA	p.K1657K	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1657					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TACCCCTTTTCTTGTGTATAA	0.398																																																0			6											202	199	200					6																	79650905		2203	4300	6503	79707624	SO:0001819	synonymous_variant	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4971G>A	6.37:g.79650905C>T			79707624	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	6.590	0.477264	0.12521	.	.	ENSG00000146247	ENST00000355098	.	.	.	5.87	5.0	0.66597	.	.	.	.	.	T	0.60470	0.2271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62115	-0.6922	4	.	.	.	-17.4414	13.9475	0.64094	0.0:0.9277:0.0:0.0723	.	.	.	.	K	382	.	.	R	-	2	0	PHIP	79707624	0.999000	0.42202	1.000000	0.80357	0.806000	0.45545	0.480000	0.22244	1.498000	0.48600	0.650000	0.86243	AGA		0.398	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			T	79650905	C	T	79650905	2	4	419	1	0	0	0	0	0	0	0	1	11842	912	32	2		2	PHIP	6	79650905	Silent	SNP	C	TCGA-61-1725-01A-01W-0639-09	53607094	79650905	91464162	24	22956											
FBXO24	26261	genome.wustl.edu	37	7	100190595	100190595	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr7:100190595G>A	ENST00000241071.6	+	5	1070	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	FBXO24_ENST00000360609.2_Missense_Mutation_p.V236M|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.V236M|FBXO24_ENST00000427939.2_Missense_Mutation_p.V288M|FBXO24_ENST00000468962.1_Missense_Mutation_p.V238M	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	250					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAAGCAGATCGTGCTGGTTGG	0.552																																																0			7											89	72	78					7																	100190595		2203	4300	6503	100028531	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.748G>A	7.37:g.100190595G>A	ENSP00000241071:p.Val250Met		100028531	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461853	0.63513	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.46819	2.45;0.86;0.86;2.45;2.44	5.73	4.84	0.62591	.	0.317364	0.25948	N	0.027261	T	0.41766	0.1173	N	0.08118	0	0.31674	N	0.643956	D;D;D;D	0.65815	0.968;0.982;0.982;0.995	P;P;P;P	0.54706	0.475;0.475;0.475;0.759	T	0.55655	-0.8107	10	0.72032	D	0.01	-7.9544	13.752	0.62912	0.0:0.0:0.845:0.155	.	238;288;250;236	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	M	250;236;236;238;288	ENSP00000241071:V250M;ENSP00000353821:V236M;ENSP00000419602:V236M;ENSP00000420239:V238M;ENSP00000416558:V288M	ENSP00000241071:V250M	V	+	1	0	FBXO24	100028531	0.309000	0.24518	0.992000	0.48379	0.487000	0.33371	1.029000	0.30140	1.407000	0.46875	0.551000	0.68910	GTG		0.552	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			A	100190595	G	A	100190595	3	1	419	1	0	0	0	0	1	0	0	0	5735	1145	40	1	923	1	FBXO24	7	100190595	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09		100190595	58948068	25	22957											
TFR2	7036	genome.wustl.edu	37	7	100225100	100225100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr7:100225100G>T	ENST00000462107.1	-	17	2069	c.1782C>A	c.(1780-1782)taC>taA	p.Y594*	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000544242.1_Nonsense_Mutation_p.Y135*|TFR2_ENST00000223051.3_Nonsense_Mutation_p.Y594*			Q9UP52	TFR2_HUMAN	transferrin receptor 2	594					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GCAGGAATGGGTAGGCCTGGT	0.667																																																0			7											55	45	49					7																	100225100		2203	4300	6503	100063036	SO:0001587	stop_gained	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1782C>A	7.37:g.100225100G>T	ENSP00000420525:p.Tyr594*		100063036	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Nonsense_Mutation	SNP	ENST00000462107.1	37	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	40	8.507780	0.98841	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	.	.	.	5.42	3.54	0.40534	.	0.203246	0.44483	D	0.000452	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.1815	7.2076	0.25915	0.2223:0.0:0.7777:0.0	.	.	.	.	X	594;594;135	.	ENSP00000223051:Y594X	Y	-	3	2	TFR2	100063036	1.000000	0.71417	0.995000	0.50966	0.566000	0.35808	0.871000	0.28023	0.623000	0.30267	0.456000	0.33151	TAC		0.667	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		T	100225100	G	T	100225100	4	4	419	1	0	0	0	0	0	1	0	0	15811	1256	44	3	635	3	TFR2	7	100225100	Nonsense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	34505	100225100	58913563	26	22958											
PLXNA4	91584	genome.wustl.edu	37	7	131865462	131865462	+	Silent	SNP	C	C	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr7:131865462C>T	ENST00000359827.3	-	19	4484	c.3522G>A	c.(3520-3522)ggG>ggA	p.G1174G	PLXNA4_ENST00000321063.4_Silent_p.G1174G			Q9HCM2	PLXA4_HUMAN	plexin A4	1174	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCACGTTGCCCCCAGCCACAG	0.597																																																0			7											53	56	55					7																	131865462		2084	4223	6307	131516002	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3522G>A	7.37:g.131865462C>T			131516002	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.597	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131865462	C	T	131865462	2	4	419	1	0	0	0	0	0	0	0	1	12122	610	22	2		2	PLXNA4	7	131865462	Silent	SNP	C	TCGA-61-1725-01A-01W-0639-09	31640362	131865462	27273201	27	22959											
ST18	9705	genome.wustl.edu	37	8	53071595	53071595	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr8:53071595G>A	ENST00000276480.7	-	15	2352	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	557					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGCTGGCACGGCCAGGGCTC	0.517																																																0			8											96	103	101					8																	53071595		2203	4300	6503	53234148	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1669C>T	8.37:g.53071595G>A	ENSP00000276480:p.Arg557Cys		53234148	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820369	0.71028	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.49139	0.79;0.79	6.08	5.19	0.71726	Myelin transcription factor 1 (1);	0.212625	0.48767	D	0.000170	T	0.59115	0.2170	L	0.51422	1.61	0.44247	D	0.997096	D;D	0.76494	0.999;0.976	P;P	0.57846	0.828;0.645	T	0.58549	-0.7617	10	0.39692	T	0.17	-5.9118	17.2592	0.87065	0.0:0.1257:0.8743:0.0	.	557;557	E5RHS3;O60284	.;ST18_HUMAN	C	557	ENSP00000276480:R557C;ENSP00000428521:R557C	ENSP00000276480:R557C	R	-	1	0	ST18	53234148	1.000000	0.71417	0.959000	0.39883	0.943000	0.58893	2.917000	0.48821	1.546000	0.49388	0.655000	0.94253	CGT		0.517	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			A	53071595	G	A	53071595	3	1	419	1	0	0	0	0	1	0	0	0	15214	1116	39	1	1522	1	ST18	8	53071595	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09		53071595	93292427	28	22960											
TMEM55A	55529	genome.wustl.edu	37	8	92008043	92008043	+	Silent	SNP	G	G	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr8:92008043G>T	ENST00000285419.3	-	7	950	c.636C>A	c.(634-636)ggC>ggA	p.G212G		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	212						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			AATCTGGGGTGCCAACCTAAA	0.358																																																0			8											54	54	54					8																	92008043		2203	4300	6503	92077219	SO:0001819	synonymous_variant	55529			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.636C>A	8.37:g.92008043G>T			92077219	B2R9H4|Q68CU2	Silent	SNP	ENST00000285419.3	37	CCDS6252.1																																																																																				0.358	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		T	92008043	G	T	92008043	2	4	419	1	0	0	0	0	0	0	0	1	16181	1306	46	3		3	TMEM55A	8	92008043	Silent	SNP	G	TCGA-61-1725-01A-01W-0639-09	38936448	92008043	54355979	29	22961											
ALDH1B1	219	genome.wustl.edu	37	9	38396587	38396587	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr9:38396587G>A	ENST00000377698.3	+	2	995	c.842G>A	c.(841-843)aGa>aAa	p.R281K		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	281					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AACCTCAAGAGAGTCACCCTG	0.597																																																0			9											52	49	50					9																	38396587		2202	4300	6502	38386587	SO:0001583	missense	219			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.842G>A	9.37:g.38396587G>A	ENSP00000366927:p.Arg281Lys		38386587	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267172	0.40095	.	.	ENSG00000137124	ENST00000377698	T	0.16597	2.33	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.078188	0.47455	D	0.000223	T	0.12008	0.0292	N	0.11789	0.175	0.38181	D	0.939615	B	0.11235	0.004	B	0.20955	0.032	T	0.20140	-1.0284	10	0.24483	T	0.36	.	17.3416	0.87298	0.0:0.0:1.0:0.0	.	281	P30837	AL1B1_HUMAN	K	281	ENSP00000366927:R281K	ENSP00000366927:R281K	R	+	2	0	ALDH1B1	38386587	1.000000	0.71417	0.789000	0.31954	0.986000	0.74619	3.942000	0.56614	2.698000	0.92095	0.655000	0.94253	AGA		0.597	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			A	38396587	G	A	38396587	3	1	419	1	0	0	0	0	1	0	0	0	493	942	33	2	844	2	ALDH1B1	9	38396587	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09		38396587	102816844	30	22962											
PSAP	5660	genome.wustl.edu	37	10	73578475	73578475	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr10:73578475C>T	ENST00000394936.3	-	13	1585	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R	PSAP_ENST00000394934.1_Missense_Mutation_p.G482R			P07602	SAP_HUMAN	prosaposin	480	Saposin B-type 4. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GGGCAGGCTCCAATTTTCTAT	0.493																																																0			10											75	84	81					10																	73578475		2203	4300	6503	73248481	SO:0001583	missense	5660			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.1438G>A	10.37:g.73578475C>T	ENSP00000378394:p.Gly480Arg		73248481	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293437	0.60086	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000394929;ENST00000404083;ENST00000394940	T;T	0.80909	-1.43;-1.43	5.35	3.48	0.39840	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.057469	0.64402	N	0.000001	T	0.80270	0.4592	L	0.52126	1.63	0.54753	D	0.999984	P	0.50272	0.933	P	0.55508	0.777	T	0.77259	-0.2654	10	0.38643	T	0.18	-11.206	5.7401	0.18089	0.1386:0.6427:0.0:0.2187	.	480	P07602	SAP_HUMAN	R	480;480;483;482;196;486;406	ENSP00000378394:G480R;ENSP00000378392:G482R	ENSP00000350063:G483R	G	-	1	0	PSAP	73248481	0.908000	0.30866	1.000000	0.80357	0.738000	0.42128	1.736000	0.38187	1.259000	0.44117	0.561000	0.74099	GGA		0.493	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		T	73578475	C	T	73578475	3	4	419	1	0	0	0	0	1	0	0	0	12646	603	21	2	144	2	PSAP	10	73578475	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09		73578475	61956272	31	22963											
FOLR3	2352	genome.wustl.edu	37	11	71850823	71850823	+	Missense_Mutation	SNP	A	A	G	rs369675505		TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr11:71850823A>G	ENST00000445078.2	+	5	877	c.806A>G	c.(805-807)tAt>tGt	p.Y269C	FOLR3_ENST00000442948.2_Missense_Mutation_p.Y228C|FOLR3_ENST00000456237.1_Missense_Mutation_p.Y271C			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	227					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GCCAAGTTCTATGCTGCGGCC	0.542													a|||	1	0.000199681	8e-04	0	5008	,	,		16339	0		0	False		,,,				2504	0															0			11						A	CYS/TYR	4,4396		0,4,2196	37	39	39		684	1.8	0.6	11		39	0,8586		0,0,4293	no	missense	FOLR3	NM_000804.2	194	0,4,6489	GG,GA,AA		0.0,0.0909,0.0308	probably-damaging	229/246	71850823	4,12982	2200	4293	6493	71528471	SO:0001583	missense	2352			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.806A>G	11.37:g.71850823A>G	ENSP00000390338:p.Tyr269Cys		71528471	J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37		.	.	.	.	.	.	.	.	.	.	N	11.86	1.764022	0.31228	9.09E-4	0.0	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.79033	-1.03;-1.03;-1.23	2.94	1.79	0.24919	.	0.000000	0.56097	U	0.000023	D	0.84415	0.5467	.	.	.	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.81118	-0.1078	8	.	.	.	.	6.179	0.20459	0.8662:0.0:0.1338:0.0	.	271;227	E9PGT2;P41439	.;FOLR3_HUMAN	C	269;271;228	ENSP00000390338:Y269C;ENSP00000399235:Y271C;ENSP00000411161:Y228C	.	Y	+	2	0	FOLR3	71528471	1.000000	0.71417	0.573000	0.28510	0.178000	0.23041	6.012000	0.70767	0.345000	0.23873	0.383000	0.25322	TAT		0.542	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		G	71850823	A	G	71850823	3	3	419	1	0	0	0	0	1	0	0	0	5983	449	16	4	698	4	FOLR3	11	71850823	Missense_Mutation	SNP	A	TCGA-61-1725-01A-01W-0639-09		71850823	63155693	32	22964											
DYNC2H1	79659	genome.wustl.edu	37	11	103026072	103026072	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr11:103026072A>C	ENST00000375735.2	+	25	3730	c.3586A>C	c.(3586-3588)Atc>Ctc	p.I1196L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I1196L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1196	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CGTAATTCCTATCTTGAAATA	0.338																																																0			11											77	71	73					11																	103026072		1815	4070	5885	102531282	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3586A>C	11.37:g.103026072A>C	ENSP00000364887:p.Ile1196Leu		102531282	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	9.968	1.224636	0.22457	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.57752	0.38;0.38	5.63	-2.78	0.05859	Dynein heavy chain, domain-2 (1);	0.567300	0.15162	N	0.277138	T	0.16085	0.0387	N	0.00746	-1.225	0.33817	D	0.62851	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45934	-0.9227	10	0.02654	T	1	.	11.9727	0.53071	0.1969:0.1305:0.6726:0.0	.	1196;1196	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	1196	ENSP00000364887:I1196L;ENSP00000381167:I1196L	ENSP00000364887:I1196L	I	+	1	0	DYNC2H1	102531282	0.996000	0.38824	0.931000	0.37212	0.972000	0.66771	0.440000	0.21592	-0.675000	0.05246	0.454000	0.30748	ATC		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		C	103026072	A	C	103026072	3	2	419	1	0	0	0	0	1	0	0	0	4846	449	16	5	3684	5	DYNC2H1	11	103026072	Missense_Mutation	SNP	A	TCGA-61-1725-01A-01W-0639-09	31175249	103026072	31980444	33	22965											
NOP2	4839	genome.wustl.edu	37	12	6670926	6670926	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr12:6670926C>A	ENST00000322166.5	-	11	1232	c.1111G>T	c.(1111-1113)Gcc>Tcc	p.A371S	NOP2_ENST00000537442.1_Missense_Mutation_p.A371S|NOP2_ENST00000545200.1_Missense_Mutation_p.A367S|NOP2_ENST00000541778.1_Missense_Mutation_p.A367S|NOP2_ENST00000399466.2_Missense_Mutation_p.A367S|NOP2_ENST00000382421.3_Missense_Mutation_p.A404S|NOP2_ENST00000542015.1_Intron	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	371					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ATGCTGGAGGCTCCCTGCAGC	0.597																																																0			12											41	45	44					12																	6670926		2030	4173	6203	6541187	SO:0001583	missense	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1111G>T	12.37:g.6670926C>A	ENSP00000313272:p.Ala371Ser		6541187	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489940	0.96339	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	M	0.86651	2.83	0.80722	D	1	P;P	0.49696	0.927;0.849	P;P	0.54706	0.759;0.674	T	0.60742	-0.7203	10	0.66056	D	0.02	-21.7863	19.2531	0.93933	0.0:1.0:0.0:0.0	.	367;367	Q05BA7;P46087-2	.;.	S	371;404;367;367;371;367;247	ENSP00000444437:A371S;ENSP00000371858:A404S;ENSP00000439422:A367S;ENSP00000382392:A367S;ENSP00000313272:A371S;ENSP00000443150:A367S;ENSP00000440754:A247S	ENSP00000313272:A371S	A	-	1	0	NOP2	6541187	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.788000	0.85771	2.536000	0.85505	0.561000	0.74099	GCC		0.597	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		A	6670926	C	A	6670926	3	1	419	1	0	0	0	0	1	0	0	0	10538	797	28	3	1351	3	NOP2	12	6670926	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09		6670926	127180969	34	22966											
EPS8	2059	genome.wustl.edu	37	12	15807146	15807146	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr12:15807146T>G	ENST00000281172.5	-	13	1619	c.1183A>C	c.(1183-1185)Aat>Cat	p.N395H	EPS8_ENST00000543612.1_Missense_Mutation_p.N395H|EPS8_ENST00000542903.1_Missense_Mutation_p.N135H|EPS8_ENST00000540613.1_Missense_Mutation_p.N135H|EPS8_ENST00000543523.1_Missense_Mutation_p.N395H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	395	PH; second part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACAGTATAATTTAAGAAATCA	0.413																																																0			12											122	103	110					12																	15807146		2203	4300	6503	15698413	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1183A>C	12.37:g.15807146T>G	ENSP00000281172:p.Asn395His		15698413	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493627	0.26774	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.82	4.82	0.62117	.	0.212364	0.48286	D	0.000195	T	0.17323	0.0416	L	0.39020	1.185	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.11372	-1.0590	10	0.46703	T	0.11	-17.9989	11.224	0.48873	0.0:0.0:0.1965:0.8035	.	395	Q12929	EPS8_HUMAN	H	395;395;395;135;135;395	ENSP00000441867:N395H;ENSP00000281172:N395H;ENSP00000442388:N395H;ENSP00000441888:N135H;ENSP00000437806:N135H	ENSP00000281172:N395H	N	-	1	0	EPS8	15698413	0.998000	0.40836	0.824000	0.32777	0.967000	0.64934	1.540000	0.36115	2.130000	0.65690	0.482000	0.46254	AAT		0.413	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			G	15807146	T	G	15807146	3	3	419	1	0	0	0	0	1	0	0	0	5194	1841	64	5	1321	5	EPS8	12	15807146	Missense_Mutation	SNP	T	TCGA-61-1725-01A-01W-0639-09	9136220	15807146	118044749	35	22967											
C12orf40	283461	genome.wustl.edu	37	12	40076832	40076832	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr12:40076832A>C	ENST00000324616.5	+	8	1260	c.1106A>C	c.(1105-1107)gAa>gCa	p.E369A	C12orf40_ENST00000405531.3_Missense_Mutation_p.E369A|C12orf40_ENST00000398716.1_Missense_Mutation_p.E292A	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	369										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGTTATCCAGAAAAATGTCAG	0.328																																																0			12											40	38	38					12																	40076832		1822	4062	5884	38363099	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1106A>C	12.37:g.40076832A>C	ENSP00000317671:p.Glu369Ala		38363099	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.923875	0.34002	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.61627	0.09;0.14	5.26	1.37	0.22104	.	0.577836	0.16358	N	0.217936	T	0.45538	0.1347	L	0.36672	1.1	0.09310	N	1	P	0.46142	0.873	B	0.43225	0.412	T	0.35798	-0.9774	10	0.87932	D	0	.	6.4325	0.21805	0.6196:0.3002:0.0802:0.0	.	369	Q86WS4	CL040_HUMAN	A	369;292;369	ENSP00000383897:E369A;ENSP00000317671:E369A	ENSP00000317671:E369A	E	+	2	0	C12orf40	38363099	0.939000	0.31865	0.020000	0.16555	0.369000	0.29798	0.651000	0.24873	0.121000	0.18284	-0.326000	0.08463	GAA		0.328	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		C	40076832	A	C	40076832	3	2	419	1	0	0	0	0	1	0	0	0	1686	246	9	5	1136	5	C12orf40	12	40076832	Missense_Mutation	SNP	A	TCGA-61-1725-01A-01W-0639-09	24269686	40076832	93775063	36	22968											
FAM113B	91523	genome.wustl.edu	37	12	47628992	47628992	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr12:47628992G>C	ENST00000546455.1	+	4	877	c.146G>C	c.(145-147)aGa>aCa	p.R49T	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.R49T			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	49							hydrolase activity (GO:0016787)										GGGCAGCTTAGAGCAAGGGGG	0.597																																																0			12											71	65	67					12																	47628992		2203	4300	6503	45915259	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.146G>C	12.37:g.47628992G>C	ENSP00000446688:p.Arg49Thr		45915259	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	8.146	0.786326	0.16189	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630;ENST00000551777	T;T;T;T;T	0.56275	1.01;1.01;0.56;0.57;0.47	3.79	-1.1	0.09872	Esterase, SGNH hydrolase-type (1);	0.161017	0.37483	N	0.002067	T	0.42899	0.1223	L	0.52905	1.665	0.23913	N	0.996482	B	0.33841	0.428	B	0.35899	0.213	T	0.40627	-0.9553	10	0.87932	D	0	-22.3339	7.191	0.25826	0.5146:0.0:0.4854:0.0	.	49	Q96HM7	F113B_HUMAN	T	49	ENSP00000446688:R49T;ENSP00000396040:R49T;ENSP00000449680:R49T;ENSP00000448000:R49T;ENSP00000448926:R49T	ENSP00000396040:R49T	R	+	2	0	FAM113B	45915259	0.997000	0.39634	0.962000	0.40283	0.011000	0.07611	0.493000	0.22451	-0.191000	0.10448	-0.238000	0.12139	AGA		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		C	47628992	G	C	47628992	3	2	419	1	0	0	0	0	1	0	0	0	5402	942	33	3	148	3	FAM113B	12	47628992	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	7552160	47628992	86222903	37	22969											
SLAIN1	122060	genome.wustl.edu	37	13	78335170	78335170	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr13:78335170G>T	ENST00000466548.1	+	7	1582	c.1556G>T	c.(1555-1557)aGt>aTt	p.S519I	SLAIN1_ENST00000314070.5_Missense_Mutation_p.S142I|SLAIN1_ENST00000267219.8_Missense_Mutation_p.S300I|SLAIN1_ENST00000418532.1_Missense_Mutation_p.S300I|SLAIN1_ENST00000358679.3_Missense_Mutation_p.S256I|SLAIN1_ENST00000351546.3_Missense_Mutation_p.S256I|SLAIN1_ENST00000488699.1_Missense_Mutation_p.S377I	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	519										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		ATGGGTCGCAGTGCACTCCCA	0.468																																																0			13											91	83	85					13																	78335170		2203	4300	6503	77233171	SO:0001583	missense	122060			AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"chromosome 13 open reading frame 32"	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1556G>T	13.37:g.78335170G>T	ENSP00000419730:p.Ser519Ile		77233171	A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.276657	0.95459	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000314070;ENST00000358679	.	.	.	5.9	5.9	0.94986	.	0.160375	0.64402	D	0.000001	D	0.83982	0.5372	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.997	D;D;D;D	0.91635	0.998;0.952;0.999;0.994	D	0.84847	0.0811	9	0.87932	D	0	-15.4493	20.2822	0.98520	0.0:0.0:1.0:0.0	.	255;377;142;519	B7Z326;B7Z209;Q8ND10;Q8ND83	.;.;.;SLAI1_HUMAN	I	519;519;300;377;300;256;142;256	.	ENSP00000267219:S300I	S	+	2	0	SLAIN1	77233171	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	8.492000	0.90471	2.806000	0.96561	0.655000	0.94253	AGT		0.468	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		T	78335170	G	T	78335170	3	4	419	1	0	0	0	0	1	0	0	0	14368	1029	36	3	917	3	SLAIN1	13	78335170	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09		78335170	36834708	38	22970											
RABGGTA	5875	genome.wustl.edu	37	14	24739234	24739234	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr14:24739234C>T	ENST00000399409.3	-	4	835	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000216840.6_Missense_Mutation_p.G118S|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	118					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGCAGGCGGCCTAGCAGCCAG	0.622																																																0			14											36	43	40					14																	24739234		2010	4174	6184	23809074	SO:0001583	missense	5875				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.352G>A	14.37:g.24739234C>T	ENSP00000382341:p.Gly118Ser		23809074	A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	5.932	0.356047	0.11239	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.39592	1.07;1.07	5.17	-0.959	0.10343	Protein prenyltransferase (1);	0.540963	0.21612	N	0.071761	T	0.15998	0.0385	N	0.03238	-0.38	0.43953	D	0.996625	B	0.02656	0.0	B	0.04013	0.001	T	0.17592	-1.0364	10	0.13470	T	0.59	-3.9902	9.827	0.40919	0.0:0.4095:0.0:0.5905	.	118	Q92696	PGTA_HUMAN	S	118;118;81	ENSP00000216840:G118S;ENSP00000382341:G118S	ENSP00000216840:G118S	G	-	1	0	RABGGTA	23809074	0.003000	0.15002	0.885000	0.34714	0.890000	0.51754	-0.085000	0.11250	-0.548000	0.06199	0.462000	0.41574	GGC		0.622	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		T	24739234	C	T	24739234	3	4	419	1	0	0	0	0	1	0	0	0	12970	681	24	2	1403	2	RABGGTA	14	24739234	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09		24739234	82610306	39	22971											
PPP2R5E	5529	genome.wustl.edu	37	14	63920527	63920527	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr14:63920527G>T	ENST00000337537.3	-	3	836	c.234C>A	c.(232-234)gaC>gaA	p.D78E	PPP2R5E_ENST00000553266.1_Intron|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.D78E|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.D2E	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	78					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CAGATAGCGTGTCCATGAAGT	0.408																																																0			14											120	112	114					14																	63920527		2203	4300	6503	62990280	SO:0001583	missense	5529			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.234C>A	14.37:g.63920527G>T	ENSP00000337641:p.Asp78Glu		62990280	A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224604	0.79576	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	6.03	6.03	0.97812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72423	0.3458	M	0.73753	2.245	0.80722	D	1	P;P;P	0.46327	0.719;0.876;0.857	B;B;P	0.52454	0.268;0.371;0.699	T	0.73241	-0.4045	9	0.51188	T	0.08	-9.2927	13.7229	0.62740	0.0699:0.0:0.9301:0.0	.	78;78;78	B7ZKK9;B7Z5X1;Q16537	.;.;2A5E_HUMAN	E	78;78;2	.	ENSP00000337641:D78E	D	-	3	2	PPP2R5E	62990280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.813000	0.69201	2.854000	0.98071	0.655000	0.94253	GAC		0.408	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		T	63920527	G	T	63920527	3	4	419	1	0	0	0	0	1	0	0	0	12399	1368	48	3	1217	3	PPP2R5E	14	63920527	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	39181293	63920527	43429013	40	22972											
APBA2	321	genome.wustl.edu	37	15	29346257	29346257	+	Missense_Mutation	SNP	C	C	T	rs141358568	byFrequency	TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr15:29346257C>T	ENST00000558402.1	+	5	769	c.170C>T	c.(169-171)gCg>gTg	p.A57V	APBA2_ENST00000558330.1_Missense_Mutation_p.A57V|APBA2_ENST00000411764.1_Missense_Mutation_p.A57V|APBA2_ENST00000561069.1_Missense_Mutation_p.A57V|APBA2_ENST00000558259.1_Missense_Mutation_p.A57V			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	57					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.A57V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGAGCCCCGCGCCAGAGGAA	0.657													C|||	4	0.000798722	0	0.0043	5008	,	,		17859	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	large_intestine(1)	15						C	VAL/ALA,VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	56	67	64		170,170	1.7	0	15	dbSNP_134	64	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	APBA2	NM_001130414.1,NM_005503.3	64,64	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	benign,benign	57/738,57/750	29346257	9,12997	2203	4300	6503	27133549	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.170C>T	15.37:g.29346257C>T	ENSP00000453293:p.Ala57Val		27133549	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	6.412	0.444058	0.12164	6.81E-4	6.98E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.40756	1.02	4.83	1.71	0.24356	.	1.249360	0.05773	N	0.607052	T	0.16557	0.0398	N	0.03115	-0.41	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.20605	-1.0270	10	0.41790	T	0.15	.	9.1865	0.37174	0.0:0.7636:0.0:0.2364	.	57;57;57	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	V	57	ENSP00000409312:A57V	ENSP00000219865:A57V	A	+	2	0	APBA2	27133549	0.000000	0.05858	0.006000	0.13384	0.337000	0.28794	-0.285000	0.08410	0.360000	0.24265	0.650000	0.86243	GCG		0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29346257	C	T	29346257	3	4	419	1	0	0	0	0	1	0	0	0	757	768	27	1	172	1	APBA2	15	29346257	Missense_Mutation	SNP	C	TCGA-61-1725-01A-01W-0639-09		29346257	73185135	41	22973											
TCF12	6938	genome.wustl.edu	37	15	57554348	57554348	+	Silent	SNP	T	T	C			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr15:57554348T>C	ENST00000267811.5	+	16	1756	c.1452T>C	c.(1450-1452)tcT>tcC	p.S484S	TCF12_ENST00000543579.1_Silent_p.S338S|TCF12_ENST00000438423.2_Silent_p.S508S|TCF12_ENST00000559703.1_Silent_p.S142S|TCF12_ENST00000343827.3_Silent_p.S314S|TCF12_ENST00000333725.5_Silent_p.S508S|TCF12_ENST00000559710.1_Silent_p.S118S|TCF12_ENST00000557843.1_Silent_p.S484S|TCF12_ENST00000452095.2_Silent_p.S504S|TCF12_ENST00000537840.1_Silent_p.S248S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	484					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGTCCTGTCTAGTACAGTCA	0.353			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	0			15											88	84	85					15																	57554348		2192	4292	6484	55341640	SO:0001819	synonymous_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1452T>C	15.37:g.57554348T>C			55341640	Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	CCDS10159.1																																																																																				0.353	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		C	57554348	T	C	57554348	2	2	419	1	0	0	0	0	0	0	0	1	15687	1509	53	4		4	TCF12	15	57554348	Silent	SNP	T	TCGA-61-1725-01A-01W-0639-09	28208091	57554348	44977044	42	22974											
GLCE	26035	genome.wustl.edu	37	15	69561365	69561365	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr15:69561365A>C	ENST00000261858.2	+	5	1864	c.1636A>C	c.(1636-1638)Aaa>Caa	p.K546Q	GLCE_ENST00000559420.2_Missense_Mutation_p.K482Q	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	546					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GGAATCTCTTAAAGCCATGCT	0.468																																																0			15											158	139	145					15																	69561365		2200	4298	6498	67348419	SO:0001583	missense	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1636A>C	15.37:g.69561365A>C	ENSP00000261858:p.Lys546Gln		67348419	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459295	0.63401	.	.	ENSG00000138604	ENST00000261858	T	0.51574	0.7	4.99	4.99	0.66335	.	0.047152	0.85682	D	0.000000	T	0.64627	0.2615	M	0.86268	2.805	0.50171	D	0.999858	D	0.58268	0.982	P	0.57620	0.824	T	0.69591	-0.5104	10	0.56958	D	0.05	-23.6458	10.0438	0.42175	0.8308:0.1692:0.0:0.0	.	546	O94923	GLCE_HUMAN	Q	546	ENSP00000261858:K546Q	ENSP00000261858:K546Q	K	+	1	0	GLCE	67348419	1.000000	0.71417	0.831000	0.32960	0.941000	0.58515	5.760000	0.68793	2.007000	0.58848	0.455000	0.32223	AAA		0.468	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		C	69561365	A	C	69561365	3	2	419	1	0	0	0	0	1	0	0	0	6432	363	13	5	1646	5	GLCE	15	69561365	Missense_Mutation	SNP	A	TCGA-61-1725-01A-01W-0639-09	12007017	69561365	32970027	43	22975											
GNPTG	84572	genome.wustl.edu	37	16	1412861	1412861	+	Silent	SNP	G	G	T			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr16:1412861G>T	ENST00000204679.4	+	10	820	c.777G>T	c.(775-777)ctG>ctT	p.L259L	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	259					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				TCAAAAGGCTGAAAGGTTTGC	0.572																																																0			16											112	116	115					16																	1412861		2199	4300	6499	1352862	SO:0001819	synonymous_variant	84572			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.777G>T	16.37:g.1412861G>T			1352862	B2R556|Q6XYD7|Q96L13	Silent	SNP	ENST00000204679.4	37	CCDS10436.1																																																																																				0.572	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		T	1412861	G	T	1412861	2	4	419	1	0	0	0	0	0	0	0	1	6546	1277	45	3		3	GNPTG	16	1412861	Silent	SNP	G	TCGA-61-1725-01A-01W-0639-09		1412861	88941892	44	22976											
USP7	7874	genome.wustl.edu	37	16	8999116	8999116	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr16:8999116G>A	ENST00000344836.4	-	14	1699	c.1501C>T	c.(1501-1503)Cac>Tac	p.H501Y	USP7_ENST00000535863.1_Missense_Mutation_p.H402Y|USP7_ENST00000381886.4_Missense_Mutation_p.H485Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	501	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCGTCATCGTGACCCCCATAA	0.438											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			16											263	198	220					16																	8999116		2197	4300	6497	8906617	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1501C>T	16.37:g.8999116G>A	ENSP00000343535:p.His501Tyr	653	8906617	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878500	0.33162	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.05382	3.45;3.45;3.45	5.39	5.39	0.77823	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	N	0.17278	0.47	0.80722	D	1	B;B	0.18863	0.031;0.031	B;B	0.24394	0.053;0.04	T	0.45556	-0.9253	10	0.32370	T	0.25	.	19.1486	0.93479	0.0:0.0:1.0:0.0	.	501;485	Q93009;B7Z815	UBP7_HUMAN;.	Y	501;509;402;402;443	ENSP00000343535:H501Y;ENSP00000443646:H402Y;ENSP00000439272:H443Y	ENSP00000343535:H501Y	H	-	1	0	USP7	8906617	1.000000	0.71417	0.869000	0.34112	0.409000	0.31022	9.675000	0.98638	2.517000	0.84864	0.561000	0.74099	CAC		0.438	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			A	8999116	G	A	8999116	3	1	419	1	0	0	0	0	1	0	0	0	17088	1290	45	2	1879	2	USP7	16	8999116	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	7586255	8999116	81355637	45	22977											
GDPD3	79153	genome.wustl.edu	37	16	30122714	30122714	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr16:30122714G>C	ENST00000406256.3	-	7	1079	c.702C>G	c.(700-702)atC>atG	p.I234M	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	234	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGTACCTGTTGATGATGTTGG	0.572																																																0			16											114	115	115					16																	30122714		2197	4300	6497	30030215	SO:0001583	missense	79153			AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.702C>G	16.37:g.30122714G>C	ENSP00000384363:p.Ile234Met		30030215	Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642182	0.29157	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.28895	1.59	5.45	4.49	0.54785	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.166532	0.50627	D	0.000117	T	0.41003	0.1140	M	0.65975	2.015	0.33126	D	0.542495	P	0.48503	0.911	P	0.51516	0.672	T	0.54682	-0.8257	10	0.42905	T	0.14	.	10.5188	0.44907	0.0918:0.0:0.9082:0.0	.	234	Q7L5L3	GDPD3_HUMAN	M	234;172	ENSP00000384363:I234M	ENSP00000353909:I172M	I	-	3	3	GDPD3	30030215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.084000	0.41625	2.523000	0.85059	0.655000	0.94253	ATC		0.572	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		C	30122714	G	C	30122714	3	2	419	1	0	0	0	0	1	0	0	0	6325	1280	45	3	270	3	GDPD3	16	30122714	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	21123598	30122714	60232039	46	22978											
RPGRIP1L	23322	genome.wustl.edu	37	16	53682975	53682975	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr16:53682975T>G	ENST00000379925.3	-	16	2255	c.2205A>C	c.(2203-2205)ttA>ttC	p.L735F	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.L735F|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.L735F|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.L735F	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	735					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGGGAACTCTTAATCGGAACC	0.393																																																0			16											121	113	116					16																	53682975		2198	4300	6498	52240476	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2205A>C	16.37:g.53682975T>G	ENSP00000369257:p.Leu735Phe		52240476	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010160	0.75046	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.91295	-2.82;-2.82	6.08	4.88	0.63580	.	0.000000	0.64402	D	0.000002	D	0.94483	0.8224	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93235	0.6621	10	0.48119	T	0.1	-8.2322	7.9464	0.29989	0.0:0.1841:0.0:0.8159	.	735;735;735;735	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	F	735	ENSP00000369257:L735F;ENSP00000262135:L735F	ENSP00000262135:L735F	L	-	3	2	RPGRIP1L	52240476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.793000	0.26944	0.988000	0.38734	0.482000	0.46254	TTA		0.393	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		G	53682975	T	G	53682975	3	3	419	1	0	0	0	0	1	0	0	0	13553	1751	61	5	1790	5	RPGRIP1L	16	53682975	Missense_Mutation	SNP	T	TCGA-61-1725-01A-01W-0639-09	23560261	53682975	36671778	47	22979											
TP53	7157	genome.wustl.edu	37	17	7577560	7577560	+	Missense_Mutation	SNP	A	A	C	rs397516437		TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr17:7577560A>C	ENST00000269305.4	-	7	910	c.721T>G	c.(721-723)Tcc>Gcc	p.S241A	TP53_ENST00000413465.2_Missense_Mutation_p.S241A|TP53_ENST00000455263.2_Missense_Mutation_p.S241A|TP53_ENST00000445888.2_Missense_Mutation_p.S241A|TP53_ENST00000359597.4_Missense_Mutation_p.S241A|TP53_ENST00000420246.2_Missense_Mutation_p.S241A|TP53_ENST00000574684.1_5'Flank	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241fs*6(9)|p.0?(8)|p.S241T(8)|p.S241A(8)|p.?(5)|p.S241del(3)|p.N239_C242delNSSC(3)|p.S241P(3)|p.S148T(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*22(1)|p.S241fs*23(1)|p.N239_C242del(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)	CCCATGCAGGAACTGTTACAC	0.572		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"	61	Substitution - Missense(20)|Deletion - Frameshift(14)|Deletion - In frame(11)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(9)|upper_aerodigestive_tract(5)|biliary_tract(5)|large_intestine(5)|urinary_tract(5)|bone(5)|breast(5)|central_nervous_system(4)|ovary(4)|stomach(3)|lung(3)|oesophagus(2)|pancreas(2)|thyroid(1)|endometrium(1)|liver(1)|skin(1)	17	GRCh37	CD984149|CM942121	TP53	D|M							139	107	118					17																	7577560		2203	4300	6503	7518285	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.721T>G	17.37:g.7577560A>C	ENSP00000269305:p.Ser241Ala		7518285	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	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514682	0.64634	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99842	-7.1;-7.1;-7.1;-7.1;-7.1;-7.1;-7.1;-7.1	4.62	3.53	0.40419	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99816	0.9919	M	0.92784	3.345	0.42488	D	0.992885	D;D;D;D;D;D	0.71674	0.982;0.995;0.998;0.986;0.986;0.992	D;D;D;D;D;D	0.91635	0.999;0.993;0.997;0.999;0.999;0.995	D	0.97804	1.0246	10	0.87932	D	0	-35.4617	9.0966	0.36642	0.8362:0.0:0.0:0.1638	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	A	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241A;ENSP00000352610:S241A;ENSP00000269305:S241A;ENSP00000398846:S241A;ENSP00000391127:S241A;ENSP00000391478:S241A;ENSP00000425104:S109A;ENSP00000423862:S148A	ENSP00000269305:S241A	S	-	1	0	TP53	7518285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.179000	0.42528	0.889000	0.36185	0.379000	0.24179	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577560	A	C	7577560	3	2	419	1	0	0	0	0	1	0	0	0	16381	246	9	5	569	5	TP53	17	7577560	Missense_Mutation	SNP	A	TCGA-61-1725-01A-01W-0639-09		7577560	73617650	48	22980											
FAM18B	51030	genome.wustl.edu	37	17	18707465	18707465	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr17:18707465G>A	ENST00000307767.8	+	6	776	c.477G>A	c.(475-477)atG>atA	p.M159I	TVP23B_ENST00000574226.1_Missense_Mutation_p.M159I|TVP23B_ENST00000476139.1_Missense_Mutation_p.M95I|TVP23B_ENST00000581733.1_Missense_Mutation_p.M95I	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	159						integral component of membrane (GO:0016021)											TGGTTATCATGGGTGTGGTGC	0.453																																																0			17											141	132	135					17																	18707465		1958	4149	6107	18648190	SO:0001583	missense	51030			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.477G>A	17.37:g.18707465G>A	ENSP00000305654:p.Met159Ile		18648190	A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	ENST00000307767.8	37	CCDS42274.1	.	.	.	.	.	.	.	.	.	.	G	0.393	-0.922640	0.02396	.	.	ENSG00000171928	ENST00000307767	T	0.36520	1.25	2.68	2.68	0.31781	.	0.039764	0.85682	D	0.000000	T	0.22437	0.0541	L	0.33293	1	0.54753	D	0.999983	B	0.10296	0.003	B	0.20767	0.031	T	0.07927	-1.0747	10	0.02654	T	1	-22.0479	11.11	0.48226	0.0:0.0:1.0:0.0	.	159	Q9NYZ1	F18B1_HUMAN	I	159	ENSP00000305654:M159I	ENSP00000305654:M159I	M	+	3	0	FAM18B1	18648190	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	6.869000	0.75521	1.504000	0.48704	0.194000	0.17425	ATG		0.453	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		A	18707465	G	A	18707465	3	1	419	1	0	0	0	0	1	0	0	0	5519	1348	47	2	499	2	FAM18B	17	18707465	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	11129905	18707465	62487745	49	22981											
JAK3	3718	genome.wustl.edu	37	19	17942152	17942152	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr19:17942152T>A	ENST00000527670.1	-	20	2892	c.2863A>T	c.(2863-2865)Atc>Ttc	p.I955F	JAK3_ENST00000534444.1_Missense_Mutation_p.I955F|JAK3_ENST00000458235.1_Missense_Mutation_p.I955F			P52333	JAK3_HUMAN	Janus kinase 3	955	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TCCACGAGGATGTTTCGGGCG	0.652		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0			19											119	106	110					19																	17942152		2203	4300	6503	17803152	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2863A>T	19.37:g.17942152T>A	ENSP00000432511:p.Ile955Phe		17803152	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070178	0.76301	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.92911	-0.61;-0.61;-3.13	3.43	3.43	0.39272	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.141330	0.46145	D	0.000318	D	0.93115	0.7808	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.75020	0.985;0.878	D	0.92204	0.5770	10	0.87932	D	0	-28.375	5.7876	0.18343	0.0:0.128:0.0:0.872	.	955;955	P52333-2;P52333	.;JAK3_HUMAN	F	955	ENSP00000391676:I955F;ENSP00000432511:I955F;ENSP00000436421:I955F	ENSP00000391676:I955F	I	-	1	0	JAK3	17803152	1.000000	0.71417	0.948000	0.38648	0.838000	0.47535	1.786000	0.38694	1.536000	0.49237	0.379000	0.24179	ATC		0.652	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		A	17942152	T	A	17942152	3	1	419	1	0	0	0	0	1	0	0	0	7939	1464	51	5	527	5	JAK3	19	17942152	Missense_Mutation	SNP	T	TCGA-61-1725-01A-01W-0639-09		17942152	41186831	50	22982											
ZNF613	79898	genome.wustl.edu	37	19	52448913	52448913	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chr19:52448913G>A	ENST00000293471.6	+	6	2456	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	ZNF613_ENST00000601794.1_Intron|ZNF613_ENST00000391794.4_Missense_Mutation_p.E557K	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTTCCAAGCAGAGAGCAAAGT	0.443																																																0			19											74	65	68					19																	52448913		2203	4300	6503	57140725	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1777G>A	19.37:g.52448913G>A	ENSP00000293471:p.Glu593Lys		57140725	Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114423	0.20795	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.05580	3.51;3.42	2.9	-1.77	0.07982	.	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45396	-0.9264	9	0.02654	T	1	.	2.6838	0.05102	0.3807:0.0:0.4091:0.2102	.	593	Q6PF04	ZN613_HUMAN	K	593;557;267	ENSP00000293471:E593K;ENSP00000375671:E557K	ENSP00000293471:E593K	E	+	1	0	ZNF613	57140725	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.283000	0.08433	-0.269000	0.09298	-0.140000	0.14226	GAG		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		A	52448913	G	A	52448913	3	1	419	1	0	0	0	0	1	0	0	0	18038	943	33	2	1791	2	ZNF613	19	52448913	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09	34506761	52448913	6680070	51	22983											
FAM47A	158724	genome.wustl.edu	37	X	34148898	34148898	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1725-01A-01W-0639-09	TCGA-61-1725-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	4f67fac4-4d43-4676-aabd-4d8aa4b9ccd0	e2a327aa-4c95-42d5-b446-ea9a04476ed0	g.chrX:34148898G>A	ENST00000346193.3	-	1	1549	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	500			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGGACGTCCGACGAGTCTTG	0.657																																																0			X																																								34058819	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1498C>T	X.37:g.34148898G>A	ENSP00000345029:p.Arg500Trp		34058819	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	11.99	1.804555	0.31869	.	.	ENSG00000185448	ENST00000346193	T	0.17213	2.29	0.546	-0.481	0.12082	.	.	.	.	.	T	0.24509	0.0594	L	0.44542	1.39	0.09310	N	1	D	0.76494	0.999	P	0.61201	0.885	T	0.12889	-1.0530	8	0.72032	D	0.01	.	.	.	.	.	500	Q5JRC9	FA47A_HUMAN	W	500	ENSP00000345029:R500W	ENSP00000345029:R500W	R	-	1	2	FAM47A	34058819	0.006000	0.16342	0.001000	0.08648	0.070000	0.16714	0.340000	0.19892	-0.325000	0.08577	0.287000	0.19450	CGG		0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		A	34148898	G	A	34148898	3	1	419	1	0	0	0	0	1	0	0	0	5569	1057	37	1	881	1	FAM47A	23	34148898	Missense_Mutation	SNP	G	TCGA-61-1725-01A-01W-0639-09		34148898	121121662	52	22984											
EIF4G3	8672	genome.wustl.edu	37	1	21220078	21220078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:21220078G>A	ENST00000264211.8	-	12	2211	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.R673*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.R277*|EIF4G3_ENST00000602326.1_Nonsense_Mutation_p.R679*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.R679*|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.R126*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.R393*|EIF4G3_ENST00000544689.1_Nonsense_Mutation_p.R216*	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	673					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTGGTCCTCGAGGCAAAATT	0.458																																																0			1											107	100	102					1																	21220078		2203	4300	6503	21092665	SO:0001587	stop_gained	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2017C>T	1.37:g.21220078G>A	ENSP00000264211:p.Arg673*		21092665	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Nonsense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006352	0.93287	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689	.	.	.	5.78	4.85	0.62838	.	0.233665	0.37483	N	0.002079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-8.7231	14.4534	0.67401	0.0:0.0:0.7145:0.2855	.	.	.	.	X	673;869;673;393;126;679;277;216;216	.	ENSP00000264211:R673X	R	-	1	2	EIF4G3	21092665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.538000	0.60650	1.413000	0.46997	-0.274000	0.10170	CGA		0.458	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		A	21220078	G	A	21220078	4	1	420	1	0	0	0	0	0	1	0	0	5038	1066	37	1	2820	1	EIF4G3	1	21220078	Nonsense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09		21220078	228030543	1	22985											
USP48	84196	genome.wustl.edu	37	1	22084161	22084161	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:22084161T>C	ENST00000308271.9	-	2	898	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	USP48_ENST00000400301.1_Missense_Mutation_p.K84E|USP48_ENST00000421625.2_Missense_Mutation_p.K84E|USP48_ENST00000529637.1_Missense_Mutation_p.K84E	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	84					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTACCTTTTTTCTCCTCTCA	0.338																																																0			1											107	99	102					1																	22084161		2202	4299	6501	21956748	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.250A>G	1.37:g.22084161T>C	ENSP00000309262:p.Lys84Glu		21956748	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844402	0.32606	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.05786	3.39;3.4;3.4;3.56	5.71	5.71	0.89125	.	0.191336	0.56097	D	0.000032	T	0.08358	0.0208	L	0.43152	1.355	0.45946	D	0.998778	B;B;B;B;B;B	0.18741	0.005;0.01;0.002;0.004;0.006;0.03	B;B;B;B;B;B	0.14023	0.005;0.005;0.003;0.006;0.01;0.007	T	0.09400	-1.0676	10	0.51188	T	0.08	.	15.1695	0.72858	0.0:0.0:0.0:1.0	.	84;84;84;84;84;84	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	E	84	ENSP00000383157:K84E;ENSP00000309262:K84E;ENSP00000431949:K84E;ENSP00000406256:K84E	ENSP00000309262:K84E	K	-	1	0	USP48	21956748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.681000	0.68175	2.172000	0.68678	0.533000	0.62120	AAA		0.338	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		C	22084161	T	C	22084161	3	2	420	1	0	0	0	0	1	0	0	0	17079	1850	64	4	2969	4	USP48	1	22084161	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	864083	22084161	227166460	2	22986											
CNR2	1269	genome.wustl.edu	37	1	24201883	24201883	+	Silent	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:24201883G>A	ENST00000374472.4	-	2	386	c.225C>T	c.(223-225)agC>agT	p.S75S	CNR2_ENST00000536471.1_Silent_p.S75S	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	75					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CCCCAGCCAAGCTGCCAATGA	0.547																																																0			1											64	74	71					1																	24201883		2203	4300	6503	24074470	SO:0001819	synonymous_variant	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.225C>T	1.37:g.24201883G>A			24074470	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	CCDS245.1																																																																																				0.547	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		A	24201883	G	A	24201883	2	1	420	1	0	0	0	0	0	0	0	1	3632	962	34	2		2	CNR2	1	24201883	Silent	SNP	G	TCGA-61-1727-01A-01W-0639-09	2117722	24201883	225048738	3	22987											
HIVEP3	59269	genome.wustl.edu	37	1	42047792	42047792	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:42047792G>C	ENST00000372583.1	-	4	3562	c.2677C>G	c.(2677-2679)Ctt>Gtt	p.L893V	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L893V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L893V|HIVEP3_ENST00000372584.1_Missense_Mutation_p.L893V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	893	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGCTGGGCAAGTGTCTGGCTG	0.602																																																0			1											58	66	63					1																	42047792		2203	4300	6503	41820379	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2677C>G	1.37:g.42047792G>C	ENSP00000361664:p.Leu893Val		41820379	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780161	0.70222	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.95	4.95	0.65309	.	0.000000	0.44688	D	0.000435	T	0.76630	0.4014	M	0.76727	2.345	0.48087	D	0.999588	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.79678	-0.1703	10	0.87932	D	0	5.5	17.9567	0.89072	0.0:0.0:1.0:0.0	.	893;893	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	893	ENSP00000361665:L893V;ENSP00000361664:L893V;ENSP00000247584:L893V;ENSP00000410828:L893V	ENSP00000247584:L893V	L	-	1	0	HIVEP3	41820379	1.000000	0.71417	0.537000	0.28052	0.982000	0.71751	7.024000	0.76443	2.562000	0.86427	0.462000	0.41574	CTT		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		C	42047792	G	C	42047792	3	2	420	1	0	0	0	0	1	0	0	0	7188	1029	36	3	4567	3	HIVEP3	1	42047792	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	17845909	42047792	207202829	4	22988											
AGL	178	genome.wustl.edu	37	1	100346734	100346734	+	Splice_Site	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:100346734G>C	ENST00000294724.4	+	15	2479		c.e15+1		AGL_ENST00000370161.2_Splice_Site|AGL_ENST00000361522.4_Splice_Site|AGL_ENST00000370165.3_Splice_Site|AGL_ENST00000370163.3_Splice_Site|AGL_ENST00000361302.3_Splice_Site|AGL_ENST00000361915.3_Splice_Site	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCCTCATCAGGTTTGTTTATA	0.333																																																0			1											142	131	135					1																	100346734		2203	4300	6503	100119322	SO:0001630	splice_region_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2001+1G>C	1.37:g.100346734G>C			100119322	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Splice_Site	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599449	0.66332	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1245	0.97974	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGL	100119322	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.239000	0.95389	2.850000	0.98022	0.655000	0.94253	.		0.333	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	Intron	C	100346734	G	C	100346734	5	2	420	1	0	0	0	0	0	0	1	0	384	1275	44	3	2125	3	AGL	1	100346734	Splice_Site	SNP	G	TCGA-61-1727-01A-01W-0639-09	58298942	100346734	148903887	5	22989											
COL11A1	1301	genome.wustl.edu	37	1	103345264	103345264	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:103345264A>C	ENST00000370096.3	-	66	5561	c.5249T>G	c.(5248-5250)aTc>aGc	p.I1750S	COL11A1_ENST00000512756.1_Missense_Mutation_p.I1634S|COL11A1_ENST00000358392.2_Missense_Mutation_p.I1762S|COL11A1_ENST00000353414.4_Missense_Mutation_p.I1711S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1750	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGTGTTTTGATAAAAGGATT	0.448																																																0			1											139	129	132					1																	103345264		2203	4300	6503	103117852	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5249T>G	1.37:g.103345264A>C	ENSP00000359114:p.Ile1750Ser		103117852	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927017	0.73327	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (4);	0.157285	0.56097	D	0.000028	T	0.71392	0.3334	M	0.74258	2.255	0.80722	D	1	B;B;B;B;B	0.31459	0.117;0.277;0.277;0.324;0.13	B;B;B;B;B	0.38225	0.211;0.175;0.175;0.268;0.125	T	0.76288	-0.3014	10	0.72032	D	0.01	.	15.9209	0.79570	1.0:0.0:0.0:0.0	.	1634;1711;1762;1750;970	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	1750;1762;1711;970;1634	ENSP00000359114:I1750S;ENSP00000351163:I1762S;ENSP00000302551:I1711S;ENSP00000426533:I1634S	ENSP00000302551:I1711S	I	-	2	0	COL11A1	103117852	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	9.283000	0.95860	2.217000	0.71921	0.482000	0.46254	ATC		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		C	103345264	A	C	103345264	3	2	420	1	0	0	0	0	1	0	0	0	3667	333	12	5	179	5	COL11A1	1	103345264	Missense_Mutation	SNP	A	TCGA-61-1727-01A-01W-0639-09	2998530	103345264	145905357	6	22990											
EPS8L3	79574	genome.wustl.edu	37	1	110294652	110294652	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:110294652G>C	ENST00000361965.4	-	15	1505	c.1399C>G	c.(1399-1401)Cgg>Ggg	p.R467G	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.R468G|EPS8L3_ENST00000361852.4_Missense_Mutation_p.R437G	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	467	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)		p.R468W(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GTCAGTTCCCGTGGGTTCCTA	0.602																																																1	Substitution - Missense(1)	lung(1)	1											103	104	104					1																	110294652		2203	4300	6503	110096175	SO:0001583	missense	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1399C>G	1.37:g.110294652G>C	ENSP00000355255:p.Arg467Gly		110096175	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577033	0.45902	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.27557	1.66;1.66;1.66	5.57	3.7	0.42460	Src homology-3 domain (4);	0.425012	0.26863	N	0.022112	T	0.08980	0.0222	N	0.05230	-0.09	0.30929	N	0.727099	P;P;B	0.49559	0.925;0.796;0.447	B;P;B	0.48552	0.446;0.581;0.14	T	0.07927	-1.0747	10	0.45353	T	0.12	-7.6284	9.1043	0.36687	0.0:0.1601:0.6735:0.1664	.	437;467;468	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	G	437;468;467	ENSP00000354551:R437G;ENSP00000358820:R468G;ENSP00000355255:R467G	ENSP00000354551:R437G	R	-	1	2	EPS8L3	110096175	0.883000	0.30277	0.854000	0.33618	0.873000	0.50193	1.690000	0.37711	0.712000	0.32039	0.655000	0.94253	CGG		0.602	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		C	110294652	G	C	110294652	3	2	420	1	0	0	0	0	1	0	0	0	5197	1144	40	3	402	3	EPS8L3	1	110294652	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	6949388	110294652	138955969	7	22991											
AHCYL1	10768	genome.wustl.edu	37	1	110562188	110562188	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:110562188C>T	ENST00000369799.5	+	15	1772	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	AHCYL1_ENST00000359172.3_Missense_Mutation_p.L422F|AHCYL1_ENST00000393614.4_Missense_Mutation_p.L422F	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	469					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		ACTGATAGAACTCTATAATGC	0.413																																																0			1											134	142	139					1																	110562188		2203	4300	6503	110363711	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1405C>T	1.37:g.110562188C>T	ENSP00000358814:p.Leu469Phe		110363711	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574180	0.86542	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.84370	-1.84;-1.84;-1.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95937	0.8677	H	0.98407	4.225	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.96590	0.9437	10	0.87932	D	0	-6.2906	20.8794	0.99867	0.0:1.0:0.0:0.0	.	469	O43865	SAHH2_HUMAN	F	469;422;422	ENSP00000358814:L469F;ENSP00000352092:L422F;ENSP00000377238:L422F	ENSP00000352092:L422F	L	+	1	0	AHCYL1	110363711	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.294000	0.51787	2.941000	0.99782	0.655000	0.94253	CTC		0.413	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			T	110562188	C	T	110562188	3	4	420	1	0	0	0	0	1	0	0	0	410	565	20	2	1463	2	AHCYL1	1	110562188	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	267536	110562188	138688433	8	22992											
FLG	2312	genome.wustl.edu	37	1	152285871	152285871	+	Missense_Mutation	SNP	G	G	C	rs116222149	byFrequency	TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:152285871G>C	ENST00000368799.1	-	3	1526	c.1491C>G	c.(1489-1491)caC>caG	p.H497Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	497	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTCGTGGTGCGATC	0.612									Ichthyosis																																							0			1											287	270	276					1																	152285871		2203	4300	6503	150552495	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1491C>G	1.37:g.152285871G>C	ENSP00000357789:p.His497Gln		150552495	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.513	0.655130	0.14580	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.04015	3.73	3.43	-6.87	0.01671	.	.	.	.	.	T	0.02533	0.0077	M	0.62154	1.92	0.09310	N	1	D	0.63046	0.992	P	0.62491	0.903	T	0.13899	-1.0492	9	0.12766	T	0.61	.	1.9968	0.03458	0.501:0.1098:0.168:0.2212	.	497	P20930	FILA_HUMAN	Q	497;29	ENSP00000357789:H497Q	ENSP00000357789:H497Q	H	-	3	2	FLG	150552495	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.380000	0.00127	-2.600000	0.00451	-2.189000	0.00312	CAC		0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152285871	G	C	152285871	3	2	420	1	0	0	0	0	1	0	0	0	5922	1136	40	3	10698	3	FLG	1	152285871	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	41723683	152285871	96964750	9	22993											
FCRL2	79368	genome.wustl.edu	37	1	157736735	157736735	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:157736735T>A	ENST00000361516.3	-	7	1237	c.1189A>T	c.(1189-1191)Atg>Ttg	p.M397L	FCRL2_ENST00000392274.3_Missense_Mutation_p.M397L|FCRL2_ENST00000368181.4_Missense_Mutation_p.M113L|FCRL2_ENST00000469986.1_Missense_Mutation_p.M144L	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	397					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCAGCTGTCATGAGGTCTCTT	0.458																																																0			1											115	115	115					1																	157736735		2203	4300	6503	156003359	SO:0001583	missense	79368			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1189A>T	1.37:g.157736735T>A	ENSP00000355157:p.Met397Leu		156003359	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.553252	0.00918	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181;ENST00000392274;ENST00000469986	T;T;T;T	0.17854	2.37;3.84;2.25;3.27	3.02	-1.49	0.08718	.	2.069140	0.03309	U	0.190162	T	0.01558	0.0050	N	0.11064	0.09	0.09310	N	1	B;B;B;B	0.10296	0.0;0.0;0.0;0.003	B;B;B;B	0.06405	0.0;0.001;0.0;0.002	T	0.21075	-1.0256	10	0.02654	T	1	.	3.309	0.07010	0.0:0.3407:0.2169:0.4424	.	397;113;397;144	B4DVJ9;Q96LA5-5;Q96LA5;Q96LA5-2	.;.;FCRL2_HUMAN;.	L	113;397;113;397;144	ENSP00000355157:M397L;ENSP00000357163:M113L;ENSP00000376100:M397L;ENSP00000417393:M144L	ENSP00000292389:M113L	M	-	1	0	FCRL2	156003359	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.919000	0.00694	-0.182000	0.10602	-0.242000	0.12053	ATG		0.458	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		A	157736735	T	A	157736735	3	1	420	1	0	0	0	0	1	0	0	0	5795	1464	51	5	361	5	FCRL2	1	157736735	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	5450864	157736735	91513886	10	22994											
AIM2	9447	genome.wustl.edu	37	1	159038359	159038359	+	Splice_Site	SNP	T	T	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:159038359T>A	ENST00000368130.4	-	3	683	c.395A>T	c.(394-396)aAg>aTg	p.K132M	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	132					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTATCCTACCTTAACATGAGG	0.453																																																0			1											236	179	198					1																	159038359		2203	4300	6503	157304983	SO:0001630	splice_region_variant	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.396+1A>T	1.37:g.159038359T>A			157304983	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.155976	0.38021	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.47869	2.75;0.83	2.26	2.26	0.28386	.	.	.	.	.	T	0.35913	0.0948	L	0.27053	0.805	0.20873	N	0.999839	D	0.89917	1.0	D	0.83275	0.996	T	0.07102	-1.0790	9	0.51188	T	0.08	-7.6508	6.4693	0.21999	0.0:0.0:0.0:1.0	.	132	O14862	AIM2_HUMAN	M	132	ENSP00000357112:K132M;ENSP00000405197:K132M	ENSP00000357112:K132M	K	-	2	0	AIM2	157304983	0.292000	0.24362	0.293000	0.24932	0.044000	0.14063	2.239000	0.43079	1.282000	0.44496	0.459000	0.35465	AAG		0.453	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833	Missense_Mutation	A	159038359	T	A	159038359	5	1	420	1	0	0	0	0	0	0	1	0	432	1623	56	5	652	5	AIM2	1	159038359	Splice_Site	SNP	T	TCGA-61-1727-01A-01W-0639-09	1301624	159038359	90212262	11	22995											
ASTN1	460	genome.wustl.edu	37	1	176833503	176833503	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:176833503G>A	ENST00000367654.3	-	23	4037	c.3826C>T	c.(3826-3828)Ctc>Ttc	p.L1276F	ASTN1_ENST00000361833.2_Missense_Mutation_p.L1268F|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1276					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCGGCTGAGCTCCGCCCAG	0.572																																																0			1											109	105	107					1																	176833503		2203	4300	6503	175100126	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3826C>T	1.37:g.176833503G>A	ENSP00000356626:p.Leu1276Phe		175100126	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	G	19.75	3.885719	0.72410	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.11930	2.73;2.73	4.61	4.61	0.57282	.	0.115692	0.64402	D	0.000015	T	0.16128	0.0388	L	0.27053	0.805	0.80722	D	1	P	0.51351	0.944	P	0.47470	0.548	T	0.02378	-1.1168	10	0.72032	D	0.01	-18.7185	17.4153	0.87498	0.0:0.0:1.0:0.0	.	1268	O14525-2	.	F	1268;1276	ENSP00000354536:L1268F;ENSP00000356626:L1276F	ENSP00000354536:L1268F	L	-	1	0	ASTN1	175100126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.485000	0.66850	2.282000	0.76494	0.555000	0.69702	CTC		0.572	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		A	176833503	G	A	176833503	3	1	420	1	0	0	0	0	1	0	0	0	1064	971	34	2	86	2	ASTN1	1	176833503	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	17795144	176833503	72417118	12	22996											
HMCN1	83872	genome.wustl.edu	37	1	186094795	186094795	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:186094795A>C	ENST00000271588.4	+	82	12788	c.12559A>C	c.(12559-12561)Att>Ctt	p.I4187L	HMCN1_ENST00000367492.2_Missense_Mutation_p.I4187L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4187	Ig-like C2-type 41.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCACAAGCCATTCTTCCATG	0.413																																																0			1											95	95	95					1																	186094795		2203	4300	6503	184361418	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12559A>C	1.37:g.186094795A>C	ENSP00000271588:p.Ile4187Leu		184361418	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	6.468	0.454419	0.12283	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66460	-0.21;-0.21	5.04	-6.37	0.01963	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.742601	0.13636	N	0.373283	T	0.38374	0.1038	N	0.13043	0.29	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.39981	-0.9587	10	0.08837	T	0.75	.	10.9603	0.47381	0.2749:0.226:0.4991:0.0	.	4187	Q96RW7	HMCN1_HUMAN	L	4187	ENSP00000271588:I4187L;ENSP00000356462:I4187L	ENSP00000271588:I4187L	I	+	1	0	HMCN1	184361418	0.000000	0.05858	0.004000	0.12327	0.931000	0.56810	-1.104000	0.03326	-1.276000	0.02414	0.528000	0.53228	ATT		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186094795	A	C	186094795	3	2	420	1	0	0	0	0	1	0	0	0	7220	217	8	5	12885	5	HMCN1	1	186094795	Missense_Mutation	SNP	A	TCGA-61-1727-01A-01W-0639-09	9261292	186094795	63155826	13	22997											
TPR	7175	genome.wustl.edu	37	1	186287710	186287710	+	Silent	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:186287710G>A	ENST00000367478.4	-	48	6986	c.6690C>T	c.(6688-6690)acC>acT	p.T2230T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2230					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGCATCAGAGGTGGTGCTCT	0.383			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	0			1											111	99	103					1																	186287710		1915	4134	6049	184554333	SO:0001819	synonymous_variant	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6690C>T	1.37:g.186287710G>A			184554333	Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																				0.383	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		A	186287710	G	A	186287710	2	1	420	1	0	0	0	0	0	0	0	1	16416	987	35	2		2	TPR	1	186287710	Silent	SNP	G	TCGA-61-1727-01A-01W-0639-09	192915	186287710	62962911	14	22998											
PIK3C2B	5287	genome.wustl.edu	37	1	204403038	204403038	+	Silent	SNP	A	A	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:204403038A>G	ENST00000367187.3	-	26	4282	c.3726T>C	c.(3724-3726)taT>taC	p.Y1242Y	PIK3C2B_ENST00000424712.2_Silent_p.Y1214Y|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1242	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGTTGATGACATACGCCATGT	0.552																																																0			1											107	94	98					1																	204403038		2203	4300	6503	202669661	SO:0001819	synonymous_variant	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3726T>C	1.37:g.204403038A>G			202669661	O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	CCDS1446.1																																																																																				0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		G	204403038	A	G	204403038	2	3	420	1	0	0	0	0	0	0	0	1	11910	224	8	4		4	PIK3C2B	1	204403038	Silent	SNP	A	TCGA-61-1727-01A-01W-0639-09	18115328	204403038	44847583	15	22999											
TARBP1	6894	genome.wustl.edu	37	1	234613920	234613920	+	Splice_Site	SNP	G	G	T	rs139752194		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:234613920G>T	ENST00000040877.1	-	1	929	c.930C>A	c.(928-930)aaC>aaA	p.N310K		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	310					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)			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)			GGCAGGTACCGTTTCCTTCCT	0.647																																																0			1											10	12	11					1																	234613920		2132	4215	6347	232680543	SO:0001630	splice_region_variant	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.931+1C>A	1.37:g.234613920G>T			232680543	Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	6.498	0.460055	0.12342	.	.	ENSG00000059588	ENST00000040877	T	0.05580	3.42	5.01	0.125	0.14718	.	1.049480	0.07398	N	0.890238	T	0.02494	0.0076	N	0.08118	0	0.20403	N	0.999901	B	0.02656	0.0	B	0.04013	0.001	T	0.44682	-0.9312	10	0.06236	T	0.91	-22.6729	2.2014	0.03924	0.1222:0.1492:0.4323:0.2962	.	310	Q13395	TARB1_HUMAN	K	310	ENSP00000040877:N310K	ENSP00000040877:N310K	N	-	3	2	TARBP1	232680543	0.328000	0.24687	0.037000	0.18230	0.550000	0.35303	0.428000	0.21395	-0.295000	0.08960	0.484000	0.47621	AAC		0.647	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	Missense_Mutation	T	234613920	G	T	234613920	5	4	420	1	0	0	0	0	0	0	1	0	15555	1159	40	3	4055	3	TARBP1	1	234613920	Splice_Site	SNP	G	TCGA-61-1727-01A-01W-0639-09	30210882	234613920	14636701	16	23000											
RYR2	6262	genome.wustl.edu	37	1	237754040	237754040	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr1:237754040G>A	ENST00000366574.2	+	31	4225	c.3908G>A	c.(3907-3909)cGc>cAc	p.R1303H	RYR2_ENST00000360064.6_Missense_Mutation_p.R1301H|RYR2_ENST00000542537.1_Missense_Mutation_p.R1287H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1303	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTTTTATCGCCTGAGCATG	0.517																																																0			1																																								235820663	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3908G>A	1.37:g.237754040G>A	ENSP00000355533:p.Arg1303His		235820663	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	16.48	3.134275	0.56828	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98249	-4.82;-4.8;-4.81	5.03	5.03	0.67393	.	0.000000	0.56097	D	0.000032	D	0.97207	0.9087	M	0.78456	2.415	0.80722	D	1	P	0.34892	0.474	B	0.25884	0.064	D	0.97495	1.0056	10	0.87932	D	0	.	18.915	0.92501	0.0:0.0:1.0:0.0	.	1303	Q92736	RYR2_HUMAN	H	1303;1301;1287	ENSP00000355533:R1303H;ENSP00000353174:R1301H;ENSP00000443798:R1287H	ENSP00000353174:R1301H	R	+	2	0	RYR2	235820663	1.000000	0.71417	0.978000	0.43139	0.226000	0.24999	9.597000	0.98273	2.777000	0.95525	0.655000	0.94253	CGC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237754040	G	A	237754040	3	1	420	1	0	0	0	0	1	0	0	0	13772	1087	38	1	4030	1	RYR2	1	237754040	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	3140120	237754040	11496581	17	23001											
ALLC	55821	genome.wustl.edu	37	2	3749152	3749154	+	In_Frame_Del	DEL	GAA	GAA	-	rs34308920|rs66473381|rs201406139|rs397869421|rs200664184	byFrequency	TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	GAA	GAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr2:3749152_3749154delGAA	ENST00000252505.3	+	11	1063_1065	c.901_903delGAA	c.(901-903)gaadel	p.E303del	ALLC_ENST00000471711.1_3'UTR|AC010907.5_ENST00000441632.1_RNA	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	322					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.E301delE(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GACAACTCAGGAAGAAGAAGCCG	0.512										HNSCC(21;0.051)				2063	0.411941	0.621	0.2997	5008	,	,		17803	0.3284		0.4404	False		,,,				2504	0.2658															2	Deletion - In frame(2)	upper_aerodigestive_tract(1)|breast(1)	2								2273,1463		704,865,299						0.4	0.2		dbSNP_130	58	3628,4278		863,1902,1188	no	coding	ALLC	NM_018436.3		1567,2767,1487	A1A1,A1R,RR		45.8892,39.1595,49.3128				5901,5741				3727029	SO:0001651	inframe_deletion	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.901_903delGAA	2.37:g.3749158_3749160delGAA	ENSP00000252505:p.Glu303del		3727027	Q53T95|Q5RL81|Q96RE6|Q9NZA7	In_Frame_Del	DEL	ENST00000252505.3	37	CCDS46223.1																																																																																				0.512	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			-	3749154	GAA	-	3749152	7	5	420	1	0	1	0	1	0	0	0	0	534	1175	41	0	939	0	ALLC	2	3749152	In_Frame_Del	DEL	GAA	TCGA-61-1727-01A-01W-0639-09		3749152	239450221	18	23002											
FSHR	2492	genome.wustl.edu	37	2	49244700	49244700	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr2:49244700C>G	ENST00000406846.2	-	4	421	c.302G>C	c.(301-303)aGa>aCa	p.R101T	FSHR_ENST00000304421.4_Missense_Mutation_p.R101T|FSHR_ENST00000346173.3_Missense_Mutation_p.R101T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	101					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CTTTTCAATTCTACTGTAAAA	0.383									Gonadal Dysgenesis, 46 XX																																							0			2											136	131	133					2																	49244700		2203	4300	6503	49098204	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.302G>C	2.37:g.49244700C>G	ENSP00000384708:p.Arg101Thr		49098204	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	9.280	1.047854	0.19827	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.17	5.17	0.71159	.	0.285464	0.34906	N	0.003600	T	0.80259	0.4590	N	0.26130	0.795	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.78041	-0.2359	9	.	.	.	.	14.056	0.64769	0.0:1.0:0.0:0.0	.	101;101;101	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	T	101	ENSP00000384708:R101T;ENSP00000333908:R101T;ENSP00000306780:R101T;ENSP00000415504:R101T	.	R	-	2	0	FSHR	49098204	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.241000	0.58707	2.673000	0.90976	0.655000	0.94253	AGA		0.383	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			G	49244700	C	G	49244700	3	3	420	1	0	0	0	0	1	0	0	0	6073	913	32	3	1813	3	FSHR	2	49244700	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	45495548	49244700	193954673	19	23003											
THSD7B	80731	genome.wustl.edu	37	2	138378267	138378267	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr2:138378267C>A	ENST00000409968.1	+	20	3948	c.3770C>A	c.(3769-3771)aCa>aAa	p.T1257K	THSD7B_ENST00000272643.3_Missense_Mutation_p.T1260K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1229K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1259	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACGGCTTGGACAGAGTGTTCA	0.473																																																0			2											183	179	180					2																	138378267		1953	4166	6119	138094737	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3770C>A	2.37:g.138378267C>A	ENSP00000387145:p.Thr1257Lys		138094737		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	18.10	3.547496	0.65311	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.54279	0.58;0.58;0.58	4.71	3.76	0.43208	.	0.300799	0.35407	N	0.003223	T	0.55016	0.1894	M	0.80183	2.485	0.80722	D	1	P	0.38020	0.615	B	0.35813	0.211	T	0.67078	-0.5761	10	0.87932	D	0	.	14.507	0.67761	0.0:0.8514:0.1486:0.0	.	1229	C9JKN6	.	K	1257;1260;1229	ENSP00000387145:T1257K;ENSP00000272643:T1260K;ENSP00000413841:T1229K	ENSP00000272643:T1260K	T	+	2	0	THSD7B	138094737	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.976000	0.63785	2.603000	0.88011	0.650000	0.86243	ACA		0.473	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	138378267	C	A	138378267	3	1	420	1	0	0	0	0	1	0	0	0	15880	478	17	3	3756	3	THSD7B	2	138378267	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	89133567	138378267	104821106	20	23004											
ITGB6	3694	genome.wustl.edu	37	2	160994612	160994612	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr2:160994612G>C	ENST00000283249.2	-	9	1443	c.1206C>G	c.(1204-1206)caC>caG	p.H402Q	ITGB6_ENST00000409872.1_Missense_Mutation_p.H402Q|ITGB6_ENST00000409967.2_Missense_Mutation_p.H402Q|ITGB6_ENST00000428609.2_Missense_Mutation_p.H360Q	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	402					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATTTCTTTTGGTGTTGGAAGA	0.453																																																0			2											265	226	239					2																	160994612		2203	4300	6503	160702858	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1206C>G	2.37:g.160994612G>C	ENSP00000283249:p.His402Gln		160702858	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505414	0.26949	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.3	1.97	0.26223	Integrin beta subunit, N-terminal (2);	0.126162	0.53938	D	0.000041	T	0.37892	0.1020	N	0.16862	0.45	0.33330	D	0.568461	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.26950	-1.0088	10	0.29301	T	0.29	.	4.4625	0.11673	0.2816:0.1891:0.5293:0.0	.	360;402	E9PEE8;P18564	.;ITB6_HUMAN	Q	402;360;402;402	ENSP00000283249:H402Q;ENSP00000408024:H360Q;ENSP00000386828:H402Q;ENSP00000386367:H402Q	ENSP00000283249:H402Q	H	-	3	2	ITGB6	160702858	0.984000	0.35163	1.000000	0.80357	0.865000	0.49528	0.164000	0.16542	0.717000	0.32145	-0.145000	0.13849	CAC		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		C	160994612	G	C	160994612	3	2	420	1	0	0	0	0	1	0	0	0	7899	1252	44	3	1188	3	ITGB6	2	160994612	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	22616345	160994612	82204761	21	23005											
FIGN	55137	genome.wustl.edu	37	2	164467021	164467021	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr2:164467021G>T	ENST00000333129.3	-	3	1635	c.1321C>A	c.(1321-1323)Cca>Aca	p.P441T	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	441					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.P441T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTTGCATTGGGTGAGAGAGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											115	117	116					2																	164467021		2149	4251	6400	164175267	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1321C>A	2.37:g.164467021G>T	ENSP00000333836:p.Pro441Thr		164175267	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	3.664	-0.068943	0.07228	.	.	ENSG00000182263	ENST00000333129	D	0.92099	-2.97	6.04	2.1	0.27182	.	0.357334	0.33005	N	0.005399	T	0.81809	0.4901	N	0.08118	0	0.43852	D	0.99644	B	0.02656	0.0	B	0.01281	0.0	T	0.70288	-0.4913	10	0.39692	T	0.17	-1.6922	11.6091	0.51049	0.0:0.1138:0.4156:0.4706	.	441	Q5HY92	FIGN_HUMAN	T	441	ENSP00000333836:P441T	ENSP00000333836:P441T	P	-	1	0	FIGN	164175267	1.000000	0.71417	0.965000	0.40720	0.994000	0.84299	1.514000	0.35834	0.100000	0.17581	-0.261000	0.10672	CCA		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		T	164467021	G	T	164467021	3	4	420	1	0	0	0	0	1	0	0	0	5891	1232	43	3	962	3	FIGN	2	164467021	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	3472409	164467021	78732352	22	23006											
SCN3A	6328	genome.wustl.edu	37	2	165997453	165997453	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr2:165997453C>A	ENST00000360093.3	-	13	2218	c.1727G>T	c.(1726-1728)aGc>aTc	p.S576I	SCN3A_ENST00000283254.7_Missense_Mutation_p.S576I|SCN3A_ENST00000409101.3_Missense_Mutation_p.S576I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	576					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGAAAATGCTTGTTTTGCT	0.468																																																0			2											79	70	73					2																	165997453		2203	4300	6503	165705699	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1727G>T	2.37:g.165997453C>A	ENSP00000353206:p.Ser576Ile		165705699	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	C	28.6	4.932031	0.92389	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	6.07	6.07	0.98685	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.996;0.996;0.996;0.981	D	0.98268	1.0502	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	576;576;576;576;576	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	576	ENSP00000353206:S576I;ENSP00000283254:S576I;ENSP00000386726:S576I;ENSP00000403348:S576I	ENSP00000283254:S576I	S	-	2	0	SCN3A	165705699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	AGC		0.468	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		A	165997453	C	A	165997453	3	1	420	1	0	0	0	0	1	0	0	0	13921	797	28	3	4339	3	SCN3A	2	165997453	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	1530432	165997453	77201920	23	23007											
PRKAR2A	5576	genome.wustl.edu	37	3	48828036	48828036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr3:48828036G>A	ENST00000265563.8	-	4	625	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	PRKAR2A_ENST00000296446.8_Nonsense_Mutation_p.Q126*|PRKAR2A_ENST00000454963.1_Nonsense_Mutation_p.Q126*	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	126	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CTGCATCTCTGTTCATCAGTT	0.294																																																0			3											90	99	96					3																	48828036		2202	4299	6501	48803040	SO:0001587	stop_gained	5576				CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.376C>T	3.37:g.48828036G>A	ENSP00000265563:p.Gln126*		48803040	Q16823|Q9BUB1	Nonsense_Mutation	SNP	ENST00000265563.8	37	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857571	0.91433	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446;ENST00000419216	.	.	.	5.21	5.21	0.72293	.	0.602718	0.17708	N	0.164685	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.3824	18.5461	0.91047	0.0:0.0:1.0:0.0	.	.	.	.	X	126;126;126;114	.	ENSP00000265563:Q126X	Q	-	1	0	PRKAR2A	48803040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.134000	0.94467	2.716000	0.92895	0.557000	0.71058	CAG		0.294	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			A	48828036	G	A	48828036	4	1	420	1	0	0	0	0	0	1	0	0	12508	1386	48	2	870	2	PRKAR2A	3	48828036	Nonsense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09		48828036	149194394	24	23008											
ZDHHC23	254887	genome.wustl.edu	37	3	113667713	113667713	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr3:113667713C>T	ENST00000330212.3	+	2	363	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P16S|RP11-255E6.6_ENST00000609657.1_RNA	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	22					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TGAATTGGAGCCCCTGTGCTG	0.483																																																0			3											193	183	186					3																	113667713		2203	4300	6503	115150403	SO:0001583	missense	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.64C>T	3.37:g.113667713C>T	ENSP00000330485:p.Pro22Ser		115150403	D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900880	0.52227	.	.	ENSG00000184307	ENST00000330212;ENST00000498275;ENST00000491556	T;T;T	0.44482	0.92;0.94;0.95	5.38	5.38	0.77491	.	0.318079	0.30151	N	0.010296	T	0.26557	0.0649	N	0.20807	0.61	0.27935	N	0.937728	B	0.27229	0.172	B	0.16289	0.015	T	0.11891	-1.0569	10	0.34782	T	0.22	-21.211	11.5884	0.50931	0.2866:0.7134:0.0:0.0	.	22	Q8IYP9	ZDH23_HUMAN	S	22;16;22	ENSP00000330485:P22S;ENSP00000417840:P16S;ENSP00000420292:P22S	ENSP00000330485:P22S	P	+	1	0	ZDHHC23	115150403	0.646000	0.27295	1.000000	0.80357	0.927000	0.56198	0.761000	0.26489	2.518000	0.84900	0.591000	0.81541	CCC		0.483	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		T	113667713	C	T	113667713	3	4	420	1	0	0	0	0	1	0	0	0	17614	739	26	2	66	2	ZDHHC23	3	113667713	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	64839677	113667713	84354717	25	23009											
STAG1	10274	genome.wustl.edu	37	3	136192384	136192384	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr3:136192384G>T	ENST00000383202.2	-	11	1378	c.1122C>A	c.(1120-1122)ttC>ttA	p.F374L	STAG1_ENST00000236698.5_Missense_Mutation_p.F374L|STAG1_ENST00000434713.2_Missense_Mutation_p.F148L|STAG1_ENST00000536929.1_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	374	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGCTTACCTTGAATCGGTTAG	0.338																																																0			3											90	91	90					3																	136192384		2203	4300	6503	137675074	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1122C>A	3.37:g.136192384G>T	ENSP00000372689:p.Phe374Leu		137675074	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.43|18.43	3.622286|3.622286	0.66787|0.66787	.|.	.|.	ENSG00000118007|ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713|ENST00000492318	T;T;T|.	0.25912|.	1.77;1.77;1.77|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.81740|.	0.4886|.	M|M	0.94101|0.94101	3.495|3.495	0.80722|0.80722	D|D	1|1	P;B;P|.	0.36438|.	0.553;0.008;0.553|.	P;B;P|.	0.46940|.	0.532;0.02;0.532|.	D|.	0.85347|.	0.1099|.	10|.	0.62326|.	D|.	0.03|.	.|.	10.2766|10.2766	0.43515|0.43515	0.1463:0.0:0.8537:0.0|0.1463:0.0:0.8537:0.0	.|.	391;374;374|.	Q4LE48;Q6P275;Q8WVM7|.	.;.;STAG1_HUMAN|.	L|X	374;374;148|21	ENSP00000372689:F374L;ENSP00000236698:F374L;ENSP00000404396:F148L|.	ENSP00000236698:F374L|.	F|S	-|-	3|2	2|0	STAG1|STAG1	137675074|137675074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.472000|3.472000	0.53114|0.53114	2.678000|2.678000	0.91216|0.91216	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.338	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		T	136192384	G	T	136192384	3	4	420	1	0	0	0	0	1	0	0	0	15244	1281	45	3	2750	3	STAG1	3	136192384	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	22524671	136192384	61830046	26	23010											
MCF2L2	23101	genome.wustl.edu	37	3	182941960	182941960	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr3:182941960A>C	ENST00000328913.3	-	19	2431	c.2134T>G	c.(2134-2136)Tat>Gat	p.Y712D	MCF2L2_ENST00000473233.1_Missense_Mutation_p.Y712D	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	712	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TATTTAAAATATATCTGAAGA	0.373																																																0			3											92	98	96					3																	182941960		2203	4300	6503	184424654	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2134T>G	3.37:g.182941960A>C	ENSP00000328118:p.Tyr712Asp		184424654	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357135	0.61293	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.69040	-0.37;-0.37	4.61	4.61	0.57282	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	D	0.87200	0.6118	H	0.97940	4.11	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.90303	0.4331	10	0.87932	D	0	.	10.5888	0.45298	1.0:0.0:0.0:0.0	.	712	Q86YR7	MF2L2_HUMAN	D	712	ENSP00000328118:Y712D;ENSP00000420070:Y712D	ENSP00000328118:Y712D	Y	-	1	0	MCF2L2	184424654	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.253000	0.58791	2.067000	0.61834	0.460000	0.39030	TAT		0.373	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		C	182941960	A	C	182941960	3	2	420	1	0	0	0	0	1	0	0	0	9380	449	16	5	1258	5	MCF2L2	3	182941960	Missense_Mutation	SNP	A	TCGA-61-1727-01A-01W-0639-09	46749576	182941960	15080470	27	23011											
WDR53	348793	genome.wustl.edu	37	3	196288253	196288253	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr3:196288253C>T	ENST00000332629.5	-	3	661	c.94G>A	c.(94-96)Gat>Aat	p.D32N	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	32										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCCGTGAGATCTCCGCCCTCT	0.542																																																0			3											75	72	73					3																	196288253		2203	4300	6503	197772650	SO:0001583	missense	348793			BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"WD repeat domain containing"	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.94G>A	3.37:g.196288253C>T	ENSP00000328079:p.Asp32Asn		197772650	A0MNP1	Missense_Mutation	SNP	ENST00000332629.5	37	CCDS3318.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564550	0.27915	.	.	ENSG00000185798	ENST00000332629;ENST00000456677;ENST00000425888	T;T;T	0.73469	1.63;-0.47;-0.75	6.02	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.220980	0.45606	D	0.000355	T	0.65923	0.2738	L	0.29908	0.895	0.80722	D	1	B	0.27559	0.181	B	0.26969	0.075	T	0.66252	-0.5970	10	0.72032	D	0.01	-0.0106	16.8478	0.85985	0.0:0.8718:0.1282:0.0	.	32	Q7Z5U6	WDR53_HUMAN	N	32	ENSP00000328079:D32N;ENSP00000408087:D32N;ENSP00000396248:D32N	ENSP00000328079:D32N	D	-	1	0	WDR53	197772650	1.000000	0.71417	0.999000	0.59377	0.117000	0.20001	4.221000	0.58574	2.878000	0.98634	0.650000	0.86243	GAT		0.542	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		T	196288253	C	T	196288253	3	4	420	1	0	0	0	0	1	0	0	0	17305	913	32	2	990	2	WDR53	3	196288253	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	13346293	196288253	1734177	28	23012											
MUC7	4589	genome.wustl.edu	37	4	71346632	71346632	+	Silent	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr4:71346632G>A	ENST00000304887.5	+	3	361	c.171G>A	c.(169-171)ccG>ccA	p.P57P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Silent_p.P57P|MUC7_ENST00000456088.1_Silent_p.P57P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	57					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCAGAAGCCGTTCATTAGAA	0.458																																																0			4											176	172	174					4																	71346632		2203	4300	6503	71381221	SO:0001819	synonymous_variant	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.171G>A	4.37:g.71346632G>A			71381221	Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	CCDS3541.1																																																																																				0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		A	71346632	G	A	71346632	2	1	420	1	0	0	0	0	0	0	0	1	9981	1132	40	1		1	MUC7	4	71346632	Silent	SNP	G	TCGA-61-1727-01A-01W-0639-09		71346632	119807644	29	23013											
NHEDC1	150159	genome.wustl.edu	37	4	103867939	103867939	+	Silent	SNP	T	T	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr4:103867939T>C	ENST00000296422.7	-	5	531	c.390A>G	c.(388-390)ttA>ttG	p.L130L	SLC9B1_ENST00000394789.3_Silent_p.L130L	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	130					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AACCAGCCAGTAACATCCCTT	0.333																																																0			4											49	49	49					4																	103867939		2202	4297	6499	104087388	SO:0001819	synonymous_variant	150159			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.390A>G	4.37:g.103867939T>C			104087388	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	CCDS34041.1																																																																																				0.333	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		C	103867939	T	C	103867939	2	2	420	1	0	0	0	0	0	0	0	1	10400	1635	57	4		4	NHEDC1	4	103867939	Silent	SNP	T	TCGA-61-1727-01A-01W-0639-09	32521307	103867939	87286337	30	23014											
C4orf31	79625	genome.wustl.edu	37	4	121966869	121966869	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr4:121966869C>T	ENST00000379692.4	-	2	650	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	42					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACTGACGAATCATGAAAAAAT	0.433																																																0			4											71	71	71					4																	121966869		1870	4106	5976	122186319	SO:0001583	missense	79625			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.124G>A	4.37:g.121966869C>T	ENSP00000369014:p.Asp42Asn		122186319	A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544386	0.45280	.	.	ENSG00000173376	ENST00000379692;ENST00000515757;ENST00000511408	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	L	0.48362	1.52	0.80722	D	1	B	0.26081	0.141	B	0.28553	0.091	T	0.50338	-0.8840	9	0.16420	T	0.52	-23.4507	16.1723	0.81825	0.0:0.867:0.133:0.0	.	42	Q8TB73	NDNF_HUMAN	N	42	.	ENSP00000369014:D42N	D	-	1	0	NDNF	122186319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.727000	0.68523	2.717000	0.92951	0.655000	0.94253	GAT		0.433	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		T	121966869	C	T	121966869	3	4	420	1	0	0	0	0	1	0	0	0	2261	826	29	2	1594	2	C4orf31	4	121966869	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	18098930	121966869	69187407	31	23015											
TRPC3	7222	genome.wustl.edu	37	4	122853735	122853735	+	Silent	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr4:122853735G>A	ENST00000379645.3	-	2	751	c.678C>T	c.(676-678)gaC>gaT	p.D226D	TRPC3_ENST00000264811.5_Silent_p.D153D|TRPC3_ENST00000513531.1_Silent_p.D153D	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	141					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGCGCGTGCCGTCCTCGTCGT	0.622																																																0			4											86	79	81					4																	122853735		2203	4300	6503	123073185	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.678C>T	4.37:g.122853735G>A			123073185	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	CCDS47130.1																																																																																				0.622	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		A	122853735	G	A	122853735	2	1	420	1	0	0	0	0	0	0	0	1	16579	1136	40	1		1	TRPC3	4	122853735	Silent	SNP	G	TCGA-61-1727-01A-01W-0639-09	886866	122853735	68300541	32	23016											
PCDH10	57575	genome.wustl.edu	37	4	134084199	134084199	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr4:134084199G>A	ENST00000264360.5	+	4	3691	c.2865G>A	c.(2863-2865)atG>atA	p.M955I		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	955					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGCTGGATGCCTTCTTTTG	0.483																																																0			4											181	153	163					4																	134084199		2203	4300	6503	134303649	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2865G>A	4.37:g.134084199G>A	ENSP00000264360:p.Met955Ile		134303649	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734920	0.69189	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.68479	-0.33	4.94	4.94	0.65067	.	0.000000	0.44097	D	0.000482	T	0.76730	0.4028	L	0.52126	1.63	0.80722	D	1	P	0.50528	0.936	P	0.61201	0.885	T	0.77365	-0.2615	10	0.56958	D	0.05	.	18.3153	0.90218	0.0:0.0:1.0:0.0	.	955	Q9P2E7	PCD10_HUMAN	I	955	ENSP00000264360:M955I	ENSP00000264360:M955I	M	+	3	0	PCDH10	134303649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.208000	0.95075	2.717000	0.92951	0.650000	0.86243	ATG		0.483	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		A	134084199	G	A	134084199	3	1	420	1	0	0	0	0	1	0	0	0	11507	1319	46	2	2939	2	PCDH10	4	134084199	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	11230464	134084199	57070077	33	23017											
NR3C2	4306	genome.wustl.edu	37	4	149035327	149035327	+	Silent	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr4:149035327C>T	ENST00000358102.3	-	8	3089	c.2727G>A	c.(2725-2727)aaG>aaA	p.K909K	NR3C2_ENST00000355292.3_Silent_p.K913K|NR3C2_ENST00000344721.4_Silent_p.K909K|NR3C2_ENST00000512865.1_Silent_p.K792K|NR3C2_ENST00000511528.1_Silent_p.K913K	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	909	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGTTGGGACACTTAGTTACCA	0.468																																					Melanoma(27;428 957 40335 51025 51111)											0			4											162	134	143					4																	149035327		2203	4300	6503	149254777	SO:0001819	synonymous_variant	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2727G>A	4.37:g.149035327C>T			149254777	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	CCDS3772.1																																																																																				0.468	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			T	149035327	C	T	149035327	2	4	420	1	0	0	0	0	0	0	0	1	10631	564	20	2		2	NR3C2	4	149035327	Silent	SNP	C	TCGA-61-1727-01A-01W-0639-09	14951128	149035327	42118949	34	23018											
DDX60	55601	genome.wustl.edu	37	4	169183863	169183863	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr4:169183863G>C	ENST00000393743.3	-	23	3406	c.3115C>G	c.(3115-3117)Caa>Gaa	p.Q1039E	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1039					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCCAAATTTGAAACATGGCA	0.343																																																0			4											91	96	94					4																	169183863		2203	4300	6503	169420438	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3115C>G	4.37:g.169183863G>C	ENSP00000377344:p.Gln1039Glu		169420438	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	1.718	-0.497289	0.04291	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	T	0.15256	2.44	5.2	-0.237	0.13061	.	0.788155	0.11371	N	0.570841	T	0.20088	0.0483	M	0.63428	1.95	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28713	-1.0035	10	0.32370	T	0.25	.	15.7624	0.78096	0.0:0.7065:0.1889:0.1046	.	1039	Q8IY21	DDX60_HUMAN	E	1039;131	ENSP00000377344:Q1039E	ENSP00000377344:Q1039E	Q	-	1	0	DDX60	169420438	0.008000	0.16893	0.028000	0.17463	0.329000	0.28539	-0.332000	0.07904	-0.097000	0.12307	0.305000	0.20034	CAA		0.343	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		C	169183863	G	C	169183863	3	2	420	1	0	0	0	0	1	0	0	0	4378	1299	45	3	2087	3	DDX60	4	169183863	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	20148536	169183863	21970413	35	23019											
ADAMTS12	81792	genome.wustl.edu	37	5	33576900	33576900	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr5:33576900G>C	ENST00000504830.1	-	19	3566	c.3231C>G	c.(3229-3231)agC>agG	p.S1077R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S992R|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1077	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GATAGCGAGAGCTCAGCTCAG	0.517										HNSCC(64;0.19)																																						0			5											126	120	122					5																	33576900		2203	4300	6503	33612657	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3231C>G	5.37:g.33576900G>C	ENSP00000422554:p.Ser1077Arg		33612657	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	g	3.738	-0.054127	0.07362	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.50277	0.75;0.75	5.17	2.47	0.30058	.	1.196350	0.05876	N	0.625494	T	0.35335	0.0928	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.30973	0.302;0.201	B;B	0.35413	0.202;0.063	T	0.38757	-0.9646	10	0.42905	T	0.14	.	8.6429	0.33987	0.233:0.0:0.767:0.0	.	992;1077	P58397-3;P58397	.;ATS12_HUMAN	R	1077;992	ENSP00000422554:S1077R;ENSP00000344847:S992R	ENSP00000344847:S992R	S	-	3	2	ADAMTS12	33612657	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.196000	0.17176	0.363000	0.24346	-0.142000	0.14014	AGC		0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		C	33576900	G	C	33576900	3	2	420	1	0	0	0	0	1	0	0	0	257	962	34	3	1577	3	ADAMTS12	5	33576900	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09		33576900	147338360	36	23020											
DMXL1	1657	genome.wustl.edu	37	5	118500236	118500236	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr5:118500236C>G	ENST00000311085.8	+	20	4817	c.4737C>G	c.(4735-4737)caC>caG	p.H1579Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.H1579Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1579										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGGCATTTCACTCAGTAGCAG	0.398																																																0			5											98	94	95					5																	118500236		2202	4300	6502	118528135	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4737C>G	5.37:g.118500236C>G	ENSP00000309690:p.His1579Gln		118528135		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787274	0.70337	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.51817	0.69;0.69	5.36	-4.04	0.04010	.	0.097480	0.64402	D	0.000001	T	0.62405	0.2425	M	0.83118	2.625	0.44843	D	0.997853	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63980	-0.6514	10	0.66056	D	0.02	-10.0186	8.6992	0.34316	0.1227:0.1443:0.0:0.7329	.	1579;1579	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	1579	ENSP00000309690:H1579Q;ENSP00000439479:H1579Q	ENSP00000309690:H1579Q	H	+	3	2	DMXL1	118528135	0.926000	0.31397	0.908000	0.35775	0.997000	0.91878	0.041000	0.13927	-0.658000	0.05366	0.591000	0.81541	CAC		0.398	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		G	118500236	C	G	118500236	3	3	420	1	0	0	0	0	1	0	0	0	4594	564	20	3	4815	3	DMXL1	5	118500236	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	84923336	118500236	62415024	37	23021											
FAM13B	51306	genome.wustl.edu	37	5	137275973	137275973	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr5:137275973C>G	ENST00000033079.3	-	23	3140	c.2689G>C	c.(2689-2691)Gcc>Ccc	p.A897P	PKD2L2_ENST00000508883.1_Intron|FAM13B_ENST00000425075.2_Missense_Mutation_p.A773P|FAM13B_ENST00000420893.2_Missense_Mutation_p.A869P|PKD2L2_ENST00000502810.1_3'UTR|PKD2L2_ENST00000290431.5_3'UTR|PKD2L2_ENST00000508638.1_3'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	897					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						CTAAGCTTGGCTTTAATTTTC	0.348																																																0			5											110	107	108					5																	137275973		2203	4300	6503	137303872	SO:0001583	missense	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2689G>C	5.37:g.137275973C>G	ENSP00000033079:p.Ala897Pro		137303872	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122591	0.94429	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.34472	2.49;1.36;2.41	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.66097	-0.6008	10	0.87932	D	0	-4.0636	19.4556	0.94886	0.0:1.0:0.0:0.0	.	773;869;897	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	P	897;773;869	ENSP00000033079:A897P;ENSP00000394669:A773P;ENSP00000388521:A869P	ENSP00000033079:A897P	A	-	1	0	FAM13B	137303872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.679000	0.91253	0.591000	0.81541	GCC		0.348	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			G	137275973	C	G	137275973	3	3	420	1	0	0	0	0	1	0	0	0	5453	797	28	3	62	3	FAM13B	5	137275973	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	18775737	137275973	43639287	38	23022											
PCDHGB2	56103	genome.wustl.edu	37	5	140740359	140740359	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr5:140740359C>G	ENST00000522605.1	+	1	657	c.657C>G	c.(655-657)gaC>gaG	p.D219E	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	219	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCGGAGACCCACCTCAAA	0.507																																																0			5											64	71	69					5																	140740359		2054	4188	6242	140720543	SO:0001583	missense	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.657C>G	5.37:g.140740359C>G	ENSP00000429018:p.Asp219Glu		140720543	Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.460	-0.889337	0.02511	.	.	ENSG00000253910	ENST00000522605	T	0.49432	0.78	5.54	-1.52	0.08637	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31918	0.0812	L	0.33245	0.995	0.09310	N	0.999999	B;B	0.22746	0.074;0.041	B;B	0.26693	0.072;0.06	T	0.29212	-1.0019	9	0.25106	T	0.35	.	6.7304	0.23381	0.0:0.4832:0.115:0.4019	.	219;219	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	E	219	ENSP00000429018:D219E	ENSP00000429018:D219E	D	+	3	2	PCDHGB2	140720543	0.000000	0.05858	0.043000	0.18650	0.034000	0.12701	-2.888000	0.00711	-0.015000	0.14150	0.655000	0.94253	GAC		0.507	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		G	140740359	C	G	140740359	3	3	420	1	0	0	0	0	1	0	0	0	11563	506	18	3	659	3	PCDHGB2	5	140740359	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	3464386	140740359	40174901	39	23023											
PCDHGB3	56102	genome.wustl.edu	37	5	140750730	140750730	+	Missense_Mutation	SNP	G	G	A	rs79773129		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr5:140750730G>A	ENST00000576222.1	+	1	900	c.769G>A	c.(769-771)Gct>Act	p.A257T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCTGCCCGCTGGCTCCTC	0.473																																																0			5											74	79	78					5																	140750730		2102	4232	6334	140730914	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.769G>A	5.37:g.140750730G>A	ENSP00000461862:p.Ala257Thr		140730914	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.473	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140750730	G	A	140750730	3	1	420	1	0	0	0	0	1	0	0	0	11564	1087	38	1	771	1	PCDHGB3	5	140750730	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	10371	140750730	40164530	40	23024											
DOCK2	1794	genome.wustl.edu	37	5	169506008	169506008	+	Missense_Mutation	SNP	C	C	T	rs201322810		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr5:169506008C>T	ENST00000256935.8	+	49	5104	c.5024C>T	c.(5023-5025)aCg>aTg	p.T1675M	DOCK2_ENST00000520908.1_Missense_Mutation_p.T1167M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.T736M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1675					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCCAAGACGCCGAGAGTG	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		19088	0		0	False		,,,				2504	0															0			5						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103	110	108		5024	4.1	0	5		108	0,8600		0,0,4300	yes	missense	DOCK2	NM_004946.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1675/1831	169506008	1,13005	2203	4300	6503	169438586	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5024C>T	5.37:g.169506008C>T	ENSP00000256935:p.Thr1675Met		169438586	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213024	0.39102	2.27E-4	0.0	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08546	3.73;3.37;3.08	4.92	4.05	0.47172	.	0.536026	0.18828	N	0.130075	T	0.05686	0.0149	N	0.14661	0.345	0.09310	N	0.999998	P;P;B	0.50156	0.661;0.932;0.349	B;B;B	0.38712	0.115;0.28;0.072	T	0.24835	-1.0149	10	0.51188	T	0.08	.	13.8967	0.63775	0.1538:0.8462:0.0:0.0	.	1167;231;1675	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	M	1675;1167;736	ENSP00000256935:T1675M;ENSP00000429283:T1167M;ENSP00000438827:T736M	ENSP00000256935:T1675M	T	+	2	0	DOCK2	169438586	0.069000	0.21087	0.008000	0.14137	0.128000	0.20619	1.306000	0.33505	1.195000	0.43115	0.650000	0.86243	ACG		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169506008	C	T	169506008	3	4	420	1	0	0	0	0	1	0	0	0	4687	536	19	1	5218	1	DOCK2	5	169506008	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	28755278	169506008	11409252	41	23025											
SNCB	6620	genome.wustl.edu	37	5	176053739	176053739	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr5:176053739C>G	ENST00000310112.3	-	4	395	c.145G>C	c.(145-147)Gta>Cta	p.V49L	SNCB_ENST00000506696.1_Missense_Mutation_p.V49L|SNCB_ENST00000393693.2_Missense_Mutation_p.V49L|MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000510387.1_Missense_Mutation_p.V49L	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	49	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACCTTGTACCACACCTTCT	0.587																																																0			5											108	102	104					5																	176053739		2203	4300	6503	175986345	SO:0001583	missense	6620			AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.145G>C	5.37:g.176053739C>G	ENSP00000308057:p.Val49Leu		175986345	Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434352	0.43224	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.12	4.12	0.48240	.	0.495783	0.19595	N	0.110533	D	0.86838	0.6029	M	0.67700	2.07	0.42217	D	0.991835	B;B	0.30146	0.27;0.0	B;B	0.32533	0.147;0.001	D	0.87925	0.2706	10	0.72032	D	0.01	-17.8705	15.9004	0.79369	0.0:1.0:0.0:0.0	.	49;49	G4Y815;Q16143	.;SYUB_HUMAN	L	49	ENSP00000308057:V49L;ENSP00000377296:V49L;ENSP00000424073:V49L;ENSP00000422223:V49L	ENSP00000308057:V49L	V	-	1	0	SNCB	175986345	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.123000	0.57917	2.317000	0.78254	0.462000	0.41574	GTA		0.587	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		G	176053739	C	G	176053739	3	3	420	1	0	0	0	0	1	0	0	0	14845	507	18	3	275	3	SNCB	5	176053739	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	6547731	176053739	4861521	42	23026											
OR5V1	81696	genome.wustl.edu	37	6	29323149	29323149	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr6:29323149G>A	ENST00000377154.1	-	4	1123	c.824C>T	c.(823-825)tCa>tTa	p.S275L	OR5V1_ENST00000543825.1_Missense_Mutation_p.S275L			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTACAACACTGAAACCAACCT	0.423																																					Ovarian(32;43 883 21137 32120 42650)											0			6											130	127	128					6																	29323149		2203	4300	6503	29431128	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.824C>T	6.37:g.29323149G>A	ENSP00000366359:p.Ser275Leu		29431128	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.077203	0.55753	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00265	8.39;8.39	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28067	N	0.016726	T	0.00412	0.0013	H	0.95294	3.65	0.09310	N	1	P	0.52577	0.954	P	0.56514	0.8	T	0.16778	-1.0391	10	0.87932	D	0	-40.713	17.3782	0.87398	0.0:0.0:1.0:0.0	.	275	Q9UGF6	OR5V1_HUMAN	L	275	ENSP00000366359:S275L;ENSP00000443309:S275L	ENSP00000366356:S275L	S	-	2	0	OR5V1	29431128	0.003000	0.15002	0.098000	0.21074	0.622000	0.37654	1.466000	0.35310	2.499000	0.84300	0.543000	0.68304	TCA		0.423	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			A	29323149	G	A	29323149	3	1	420	1	0	0	0	0	1	0	0	0	11184	1294	45	2	144	2	OR5V1	6	29323149	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09		29323149	141791918	43	23027											
OR11A1	26531	genome.wustl.edu	37	6	29395342	29395342	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr6:29395342T>C	ENST00000377149.1	-	5	549	c.77A>G	c.(76-78)cAt>cGt	p.H26R	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.H26R|OR11A1_ENST00000377148.1_Missense_Mutation_p.H26R			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AAACAAGAAATGCAGTTCAGG	0.408																																																0			6											74	73	74					6																	29395342		1510	2708	4218	29503321	SO:0001583	missense	26531				CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.77A>G	6.37:g.29395342T>C	ENSP00000366354:p.His26Arg		29503321	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	T	8.894	0.954619	0.18431	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.00419	7.48;7.48;7.48	3.77	2.59	0.31030	.	0.244558	0.20747	U	0.086435	T	0.00039	0.0001	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31641	-0.9936	10	0.49607	T	0.09	-4.4099	8.0438	0.30536	0.0:0.1012:0.0:0.8988	.	26	Q9GZK7	O11A1_HUMAN	R	26	ENSP00000366353:H26R;ENSP00000366354:H26R;ENSP00000366352:H26R	ENSP00000366352:H26R	H	-	2	0	OR11A1	29503321	0.612000	0.27000	0.002000	0.10522	0.096000	0.18686	1.470000	0.35354	0.509000	0.28195	0.333000	0.21579	CAT		0.408	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			C	29395342	T	C	29395342	3	2	420	1	0	0	0	0	1	0	0	0	10924	1464	51	4	874	4	OR11A1	6	29395342	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	72193	29395342	141719725	44	23028											
TTBK1	84630	genome.wustl.edu	37	6	43250726	43250728	+	In_Frame_Del	DEL	GAA	GAA	-	rs373093693|rs113160341	byFrequency	TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	GAA	GAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr6:43250726_43250728delGAA	ENST00000259750.4	+	14	2331_2333	c.2248_2250delGAA	c.(2248-2250)gaadel	p.E771del		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	771	Glu-rich.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			agaggatgaggaagaagaagagg	0.596														1066	0.212859	0.3041	0.1988	5008	,	,		16464	0.1131		0.172	False		,,,				2504	0.2444															0			6								1250,3010		180,890,1060						2.3	0.3		dbSNP_132	18	1640,6596		164,1312,2642	no	coding	TTBK1	NM_032538.1		344,2202,3702	A1A1,A1R,RR		19.9126,29.3427,23.1274				2890,9606				43358706	SO:0001651	inframe_deletion	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2248_2250delGAA	6.37:g.43250732_43250734delGAA	ENSP00000259750:p.Glu771del		43358704	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	In_Frame_Del	DEL	ENST00000259750.4	37	CCDS34455.1																																																																																				0.596	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			-	43250728	GAA	-	43250726	7	5	420	1	0	1	0	1	0	0	0	0	16676	1175	41	0	2298	0	TTBK1	6	43250726	In_Frame_Del	DEL	GAA	TCGA-61-1727-01A-01W-0639-09	13855384	43250726	127864341	45	23029											
CD109	135228	genome.wustl.edu	37	6	74517956	74517956	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr6:74517956A>G	ENST00000287097.5	+	26	3452	c.3340A>G	c.(3340-3342)Aga>Gga	p.R1114G	CD109_ENST00000437994.2_Missense_Mutation_p.R1114G|CD109_ENST00000422508.2_Missense_Mutation_p.R1037G			Q6YHK3	CD109_HUMAN	CD109 molecule	1114					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.R1114R(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGACTTGGAGAGCAGAACA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	6											94	95	95					6																	74517956		2203	4300	6503	74574677	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3340A>G	6.37:g.74517956A>G	ENSP00000287097:p.Arg1114Gly		74574677	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384548	0.25031	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.38240	1.15;1.15;1.15	4.69	3.5	0.40072	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.455547	0.26089	N	0.026408	T	0.23806	0.0576	M	0.69523	2.12	0.41187	D	0.986274	B;B;B	0.23591	0.088;0.03;0.007	B;B;B	0.31337	0.128;0.06;0.078	T	0.05484	-1.0882	10	0.37606	T	0.19	.	11.076	0.48032	0.7949:0.2051:0.0:0.0	.	1037;1114;1114	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	G	1114;1037;1114	ENSP00000388062:R1114G;ENSP00000404475:R1037G;ENSP00000287097:R1114G	ENSP00000287097:R1114G	R	+	1	2	CD109	74574677	1.000000	0.71417	0.916000	0.36221	0.243000	0.25628	2.946000	0.49050	0.759000	0.33084	0.533000	0.62120	AGA		0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		G	74517956	A	G	74517956	3	3	420	1	0	0	0	0	1	0	0	0	2963	296	11	4	3442	4	CD109	6	74517956	Missense_Mutation	SNP	A	TCGA-61-1727-01A-01W-0639-09	31267230	74517956	96597111	46	23030											
SNAP91	9892	genome.wustl.edu	37	6	84270652	84270652	+	Silent	SNP	A	A	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr6:84270652A>T	ENST00000439399.2	-	27	2773	c.2457T>A	c.(2455-2457)ccT>ccA	p.P819P	SNAP91_ENST00000195649.6_Silent_p.P814P|SNAP91_ENST00000520213.1_Silent_p.P512P|SNAP91_ENST00000369694.2_Silent_p.P819P|SNAP91_ENST00000521485.1_Silent_p.P814P|SNAP91_ENST00000520302.1_Silent_p.P789P|SNAP91_ENST00000521743.1_Silent_p.P819P|SNAP91_ENST00000437520.1_Silent_p.P512P|SNAP91_ENST00000428679.2_Silent_p.P819P	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	819	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AACTGGTTGGAGGTACAGCTC	0.423																																																0			6											45	45	45					6																	84270652		1946	4153	6099	84327371	SO:0001819	synonymous_variant	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2457T>A	6.37:g.84270652A>T			84327371	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	CCDS47455.1																																																																																				0.423	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			T	84270652	A	T	84270652	2	4	420	1	0	0	0	0	0	0	0	1	14836	291	11	5		5	SNAP91	6	84270652	Silent	SNP	A	TCGA-61-1727-01A-01W-0639-09	9752696	84270652	86844415	47	23031											
RNGTT	8732	genome.wustl.edu	37	6	89554087	89554087	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr6:89554087T>G	ENST00000369485.4	-	11	1444	c.1258A>C	c.(1258-1260)Act>Cct	p.T420P	RNGTT_ENST00000265607.6_Missense_Mutation_p.T420P|RNGTT_ENST00000369475.3_Missense_Mutation_p.T420P|RNGTT_ENST00000538899.1_Missense_Mutation_p.T360P	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	420	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTTCTTGAAGTACAGATGTCA	0.328																																																0			6											106	107	106					6																	89554087		2202	4300	6502	89610806	SO:0001583	missense	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1258A>C	6.37:g.89554087T>G	ENSP00000358497:p.Thr420Pro		89610806	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452955	0.26161	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.7	0.845	0.18950	mRNA capping enzyme (1);	0.299519	0.41500	D	0.000866	T	0.71533	0.3351	L	0.60455	1.87	0.24833	N	0.99252	B;B;B;B	0.27765	0.097;0.188;0.045;0.051	B;P;B;B	0.45138	0.061;0.471;0.05;0.351	T	0.64647	-0.6358	10	0.02654	T	1	.	10.2938	0.43612	0.0:0.5276:0.0:0.4724	.	360;420;420;420	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	P	420;420;360;391;420	ENSP00000358497:T420P;ENSP00000265607:T420P;ENSP00000442609:T360P;ENSP00000358487:T420P	ENSP00000265607:T420P	T	-	1	0	RNGTT	89610806	0.998000	0.40836	0.147000	0.22382	0.307000	0.27823	0.959000	0.29240	0.131000	0.18576	0.460000	0.39030	ACT		0.328	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			G	89554087	T	G	89554087	3	3	420	1	0	0	0	0	1	0	0	0	13506	1638	57	5	559	5	RNGTT	6	89554087	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	5283435	89554087	81560980	48	23032											
GOPC	57120	genome.wustl.edu	37	6	117900079	117900079	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr6:117900079G>A	ENST00000368498.2	-	2	509	c.434C>T	c.(433-435)aCc>aTc	p.T145I	GOPC_ENST00000052569.6_Missense_Mutation_p.T145I|GOPC_ENST00000535237.1_Missense_Mutation_p.T145I	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	145					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TGCCTTAATGGTACCAGAGTC	0.373			O	ROS1	glioblastoma																																		Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	0			6											96	89	91					6																	117900079		2203	4300	6503	118006772	SO:0001583	missense	57120			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.434C>T	6.37:g.117900079G>A	ENSP00000357484:p.Thr145Ile		118006772	A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898300	0.52227	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	D;D;T	0.83163	-1.69;-1.69;2.42	5.71	5.71	0.89125	.	0.272309	0.43416	D	0.000561	T	0.59348	0.2187	N	0.12182	0.205	0.26982	N	0.965345	B;B	0.14805	0.011;0.011	B;B	0.12156	0.007;0.003	T	0.47873	-0.9083	10	0.30854	T	0.27	-19.9858	19.8426	0.96695	0.0:0.0:1.0:0.0	.	145;145	Q9HD26-2;Q9HD26	.;GOPC_HUMAN	I	145	ENSP00000052569:T145I;ENSP00000357484:T145I;ENSP00000445690:T145I	ENSP00000052569:T145I	T	-	2	0	GOPC	118006772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.583000	0.67484	2.686000	0.91538	0.585000	0.79938	ACC		0.373	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		A	117900079	G	A	117900079	3	1	420	1	0	0	0	0	1	0	0	0	6573	1261	44	2	986	2	GOPC	6	117900079	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	28345992	117900079	53214988	49	23033											
IFNGR1	3459	genome.wustl.edu	37	6	137519663	137519663	+	Silent	SNP	C	C	T	rs376124136		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr6:137519663C>T	ENST00000367739.4	-	7	1096	c.975G>A	c.(973-975)ccG>ccA	p.P325P	IFNGR1_ENST00000543628.1_Silent_p.P297P	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	325					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTGGAGACAACGGCTCTTCAC	0.423																																																0			6						C		1,4405	2.1+/-5.4	0,1,2202	92	84	87		975	-0.7	0	6		87	0,8600		0,0,4300	no	coding-synonymous	IFNGR1	NM_000416.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		325/490	137519663	1,13005	2203	4300	6503	137561356	SO:0001819	synonymous_variant	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.975G>A	6.37:g.137519663C>T			137561356	B4DFT7|E1P587|Q53Y96	Silent	SNP	ENST00000367739.4	37	CCDS5185.1																																																																																				0.423	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			T	137519663	C	T	137519663	2	4	420	1	0	0	0	0	0	0	0	1	7549	523	19	1		1	IFNGR1	6	137519663	Silent	SNP	C	TCGA-61-1727-01A-01W-0639-09	19619584	137519663	33595404	50	23034											
COL1A2	1278	genome.wustl.edu	37	7	94047844	94047844	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr7:94047844C>A	ENST00000297268.6	+	33	2476	c.2005C>A	c.(2005-2007)Cct>Act	p.P669T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	669					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AATTGGTAACCCTGGCAGAGA	0.338										HNSCC(75;0.22)																																						0			7											177	172	174					7																	94047844		2203	4300	6503	93885780	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2005C>A	7.37:g.94047844C>A	ENSP00000297268:p.Pro669Thr		93885780	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880569	0.33255	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96651	-4.08	5.85	-3.47	0.04753	.	0.858971	0.10553	N	0.661259	D	0.93517	0.7931	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.80926	-0.1164	10	0.38643	T	0.18	.	15.6664	0.77234	0.7355:0.2084:0.0:0.0561	.	669	P08123	CO1A2_HUMAN	T	669;670	ENSP00000297268:P669T	ENSP00000297268:P669T	P	+	1	0	COL1A2	93885780	0.000000	0.05858	0.009000	0.14445	0.958000	0.62258	-1.152000	0.03172	-0.786000	0.04516	-0.182000	0.12963	CCT		0.338	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94047844	C	A	94047844	3	1	420	1	0	0	0	0	1	0	0	0	3678	623	22	3	2135	3	COL1A2	7	94047844	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09		94047844	65090819	51	23035											
LAMB1	3912	genome.wustl.edu	37	7	107626474	107626474	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr7:107626474C>A	ENST00000222399.6	-	7	899	c.669G>T	c.(667-669)agG>agT	p.R223S	LAMB1_ENST00000393560.1_Missense_Mutation_p.R223S|LAMB1_ENST00000393561.1_Missense_Mutation_p.R247S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	223	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TACTCTGTATCCTTGGGCTAT	0.338																																																0			7											90	87	88					7																	107626474		2203	4300	6503	107413710	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.669G>T	7.37:g.107626474C>A	ENSP00000222399:p.Arg223Ser		107413710	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036653	0.35893	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.75704	-0.96;-0.96;-0.96	5.55	5.55	0.83447	Laminin, N-terminal (3);	.	.	.	.	D	0.83179	0.5198	L	0.55103	1.725	0.48236	D	0.999616	P;B;D	0.65815	0.714;0.392;0.995	B;B;D	0.65987	0.268;0.348;0.94	T	0.80975	-0.1142	9	0.36615	T	0.2	.	19.5071	0.95124	0.0:1.0:0.0:0.0	.	223;223;247	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	S	247;223;223	ENSP00000377191:R247S;ENSP00000222399:R223S;ENSP00000377190:R223S	ENSP00000222399:R223S	R	-	3	2	LAMB1	107413710	0.146000	0.22672	1.000000	0.80357	0.614000	0.37383	-0.082000	0.11304	2.617000	0.88574	0.557000	0.71058	AGG		0.338	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107626474	C	A	107626474	3	1	420	1	0	0	0	0	1	0	0	0	8610	854	30	3	4803	3	LAMB1	7	107626474	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	13578630	107626474	51512189	52	23036											
PLXNA4	91584	genome.wustl.edu	37	7	131829916	131829916	+	Silent	SNP	A	A	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr7:131829916A>T	ENST00000359827.3	-	29	6149	c.5187T>A	c.(5185-5187)atT>atA	p.I1729I	PLXNA4_ENST00000321063.4_Silent_p.I1729I			Q9HCM2	PLXA4_HUMAN	plexin A4	1729					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCGGGTCATGAATGCCATGTT	0.572																																																0			7											89	91	91					7																	131829916		2203	4300	6503	131480456	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5187T>A	7.37:g.131829916A>T			131480456	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131829916	A	T	131829916	2	4	420	1	0	0	0	0	0	0	0	1	12122	242	9	5		5	PLXNA4	7	131829916	Silent	SNP	A	TCGA-61-1727-01A-01W-0639-09	24203442	131829916	27308747	53	23037											
CUL1	8454	genome.wustl.edu	37	7	148486911	148486911	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr7:148486911C>T	ENST00000325222.4	+	15	1946	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	CUL1_ENST00000602748.1_Missense_Mutation_p.P556L|CUL1_ENST00000409469.1_Missense_Mutation_p.P556L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	556					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTTGCCTTGCCGTCAGAGGTA	0.572																																																0			7											147	142	144					7																	148486911		2203	4300	6503	148117844	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1667C>T	7.37:g.148486911C>T	ENSP00000326804:p.Pro556Leu		148117844	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757262	0.69648	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.93547	-3.24;-3.24	5.08	5.08	0.68730	Cullin, N-terminal (1);Cullin homology (3);	0.108726	0.64402	D	0.000005	D	0.98169	0.9395	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99824	1.1049	10	0.87932	D	0	-15.6332	18.4804	0.90809	0.0:1.0:0.0:0.0	.	483;556	E7EWR0;Q13616	.;CUL1_HUMAN	L	556;556;514;483	ENSP00000387160:P556L;ENSP00000326804:P556L	ENSP00000326804:P556L	P	+	2	0	CUL1	148117844	1.000000	0.71417	0.940000	0.37924	0.155000	0.21991	7.354000	0.79424	2.359000	0.80004	0.591000	0.81541	CCG		0.572	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		T	148486911	C	T	148486911	3	4	420	1	0	0	0	0	1	0	0	0	4054	652	23	1	1721	1	CUL1	7	148486911	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	16656995	148486911	10651752	54	23038											
SLC4A2	6522	genome.wustl.edu	37	7	150771800	150771800	+	Silent	SNP	A	A	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr7:150771800A>T	ENST00000485713.1	+	19	3959	c.2919A>T	c.(2917-2919)ccA>ccT	p.P973P	SLC4A2_ENST00000310317.5_Silent_p.P891P|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Silent_p.P964P|SLC4A2_ENST00000413384.2_Silent_p.P973P|SLC4A2_ENST00000461735.1_Silent_p.P959P|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	973	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGACTGCCCCAGAAAAGAGGG	0.582																																																0			7											82	85	84					7																	150771800		2203	4300	6503	150402733	SO:0001819	synonymous_variant	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2919A>T	7.37:g.150771800A>T			150402733	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	CCDS5917.1																																																																																				0.582	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		T	150771800	A	T	150771800	2	4	420	1	0	0	0	0	0	0	0	1	14657	175	7	5		5	SLC4A2	7	150771800	Silent	SNP	A	TCGA-61-1727-01A-01W-0639-09	2284889	150771800	8366863	55	23039											
C8orf80	389643	genome.wustl.edu	37	8	27898593	27898593	+	Missense_Mutation	SNP	C	C	T	rs200817436		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr8:27898593C>T	ENST00000413272.2	-	13	1728	c.1586G>A	c.(1585-1587)cGc>cAc	p.R529H	NUGGC_ENST00000341513.6_Missense_Mutation_p.R529H	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	529					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GAGGATGCAGCGGTAAGAAGT	0.567													C|||	1	0.000199681	0	0	5008	,	,		18945	0.001		0	False		,,,				2504	0															0			8						C	HIS/ARG	2,4120		0,2,2059	50	51	51		1586	5.5	1	8		51	3,8427		0,3,4212	yes	missense	C8orf80	NM_001010906.1	29	0,5,6271	TT,TC,CC		0.0356,0.0485,0.0398	probably-damaging	529/797	27898593	5,12547	2061	4215	6276	27954512	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1586G>A	8.37:g.27898593C>T	ENSP00000408697:p.Arg529His		27954512	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771839	0.69992	4.85E-4	3.56E-4	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.32515	1.45;1.45	5.53	5.53	0.82687	.	0.338199	0.26939	N	0.021735	T	0.38188	0.1031	L	0.29908	0.895	0.40960	D	0.984618	D	0.76494	0.999	P	0.59487	0.858	T	0.05435	-1.0885	10	0.27082	T	0.32	-12.0884	14.9723	0.71243	0.0:1.0:0.0:0.0	.	529	Q68CJ6	SLIP_HUMAN	H	529	ENSP00000408697:R529H;ENSP00000345031:R529H	ENSP00000345031:R529H	R	-	2	0	C8orf80	27954512	0.621000	0.27077	0.996000	0.52242	0.298000	0.27526	1.025000	0.30090	2.584000	0.87258	0.650000	0.86243	CGC		0.567	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		T	27898593	C	T	27898593	3	4	420	1	0	0	0	0	1	0	0	0	2439	768	27	1	832	1	C8orf80	8	27898593	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09		27898593	118465429	56	23040											
MYST3	7994	genome.wustl.edu	37	8	41791477	41791477	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr8:41791477C>G	ENST00000396930.3	-	18	4804	c.4261G>C	c.(4261-4263)Gat>Cat	p.D1421H	KAT6A_ENST00000406337.1_Missense_Mutation_p.D1421H|KAT6A_ENST00000265713.2_Missense_Mutation_p.D1421H	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1421					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTTTCCAGATCCAGCTCACTA	0.502																																																0			8											101	97	98					8																	41791477		2203	4300	6503	41910634	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4261G>C	8.37:g.41791477C>G	ENSP00000380136:p.Asp1421His		41910634	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065341	0.55432	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.75154	-0.91;-0.91;-0.91	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.82006	0.4943	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82458	-0.0447	10	0.66056	D	0.02	-24.8883	20.4043	0.99006	0.0:1.0:0.0:0.0	.	1421	Q92794	KAT6A_HUMAN	H	1421	ENSP00000265713:D1421H;ENSP00000385888:D1421H;ENSP00000380136:D1421H	ENSP00000265713:D1421H	D	-	1	0	KAT6A	41910634	1.000000	0.71417	0.994000	0.49952	0.615000	0.37417	7.294000	0.78760	2.823000	0.97156	0.650000	0.86243	GAT		0.502	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		G	41791477	C	G	41791477	3	3	420	1	0	0	0	0	1	0	0	0	10104	855	30	3	1757	3	MYST3	8	41791477	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	13892884	41791477	104572545	57	23041											
RP1	6101	genome.wustl.edu	37	8	55538015	55538015	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr8:55538015C>G	ENST00000220676.1	+	4	1721	c.1573C>G	c.(1573-1575)Caa>Gaa	p.Q525E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	525					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAACAATGATCAAATGGAGGA	0.343																																					Colon(91;1014 1389 7634 14542 40420)											0			8											68	66	66					8																	55538015		2203	4300	6503	55700568	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1573C>G	8.37:g.55538015C>G	ENSP00000220676:p.Gln525Glu		55700568		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.427895	0.01117	.	.	ENSG00000104237	ENST00000220676	T	0.28666	1.6	5.62	2.75	0.32379	.	0.620823	0.15233	N	0.273340	T	0.17109	0.0411	L	0.35414	1.06	0.09310	N	1	B	0.22276	0.067	B	0.12837	0.008	T	0.30650	-0.9971	10	0.12103	T	0.63	.	3.4783	0.07593	0.2745:0.3624:0.2836:0.0795	.	525	P56715	RP1_HUMAN	E	525	ENSP00000220676:Q525E	ENSP00000220676:Q525E	Q	+	1	0	RP1	55700568	0.000000	0.05858	0.014000	0.15608	0.347000	0.29111	-0.088000	0.11198	0.272000	0.22027	0.650000	0.86243	CAA		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		G	55538015	C	G	55538015	3	3	420	1	0	0	0	0	1	0	0	0	13535	827	29	3	1583	3	RP1	8	55538015	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	13746538	55538015	90826007	58	23042											
TRPA1	8989	genome.wustl.edu	37	8	72935340	72935340	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr8:72935340A>G	ENST00000262209.4	-	27	3368	c.3161T>C	c.(3160-3162)cTt>cCt	p.L1054P	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1054					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAGAAAAGTAAGATCCTTCAG	0.378																																																0			8											84	75	78					8																	72935340		2203	4300	6503	73097894	SO:0001583	missense	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3161T>C	8.37:g.72935340A>G	ENSP00000262209:p.Leu1054Pro		73097894	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016867	0.75161	.	.	ENSG00000104321	ENST00000262209	T	0.47528	0.84	5.92	5.92	0.95590	.	0.218715	0.48767	D	0.000176	T	0.61400	0.2344	M	0.70595	2.14	0.80722	D	1	D	0.54207	0.965	P	0.52909	0.713	T	0.66110	-0.6005	10	0.87932	D	0	-5.9264	16.0368	0.80635	1.0:0.0:0.0:0.0	.	1054	O75762	TRPA1_HUMAN	P	1054	ENSP00000262209:L1054P	ENSP00000262209:L1054P	L	-	2	0	TRPA1	73097894	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	7.781000	0.85668	2.270000	0.75569	0.459000	0.35465	CTT		0.378	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		G	72935340	A	G	72935340	3	3	420	1	0	0	0	0	1	0	0	0	16577	72	3	4	202	4	TRPA1	8	72935340	Missense_Mutation	SNP	A	TCGA-61-1727-01A-01W-0639-09	17397325	72935340	73428682	59	23043											
CRISPLD1	83690	genome.wustl.edu	37	8	75941627	75941627	+	Silent	SNP	C	C	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr8:75941627C>A	ENST00000262207.4	+	14	1794	c.1326C>A	c.(1324-1326)tcC>tcA	p.S442S	CRISPLD1_ENST00000523524.1_Silent_p.S254S|CRISPLD1_ENST00000517786.1_Silent_p.S256S|RP11-300E4.2_ENST00000520778.1_RNA	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	442	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CTCAGCTGTCCAGTATCTGCA	0.423																																																0			8											85	76	79					8																	75941627		2203	4300	6503	76104182	SO:0001819	synonymous_variant	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1326C>A	8.37:g.75941627C>A			76104182	B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	37	CCDS6219.1																																																																																				0.423	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		A	75941627	C	A	75941627	2	1	420	1	0	0	0	0	0	0	0	1	3882	581	21	3		3	CRISPLD1	8	75941627	Silent	SNP	C	TCGA-61-1727-01A-01W-0639-09	3006287	75941627	70422395	60	23044											
ATP6V0D2	245972	genome.wustl.edu	37	8	87162412	87162412	+	Silent	SNP	A	A	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr8:87162412A>G	ENST00000285393.3	+	6	853	c.711A>G	c.(709-711)cgA>cgG	p.R237R	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						AAGAAGACCGAGAGACCCTCT	0.458																																																0			8											107	99	102					8																	87162412		2203	4300	6503	87231528	SO:0001819	synonymous_variant	245972			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"ATPases / V-type"	18266	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.711A>G	8.37:g.87162412A>G			87231528		Silent	SNP	ENST00000285393.3	37	CCDS6241.1																																																																																				0.458	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		G	87162412	A	G	87162412	2	3	420	1	0	0	0	0	0	0	0	1	1174	291	11	4		4	ATP6V0D2	8	87162412	Silent	SNP	A	TCGA-61-1727-01A-01W-0639-09	11220785	87162412	59201610	61	23045											
UBR5	51366	genome.wustl.edu	37	8	103298812	103298812	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr8:103298812T>C	ENST00000520539.1	-	38	5597	c.4991A>G	c.(4990-4992)gAt>gGt	p.D1664G	UBR5_ENST00000521922.1_Missense_Mutation_p.D1658G|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.D1664G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1664					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)			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)			TTGAGAATCATCTTCAGAAAA	0.348																																					Ovarian(131;96 1741 5634 7352 27489)											0			8											84	78	80					8																	103298812		2203	4300	6503	103367988	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.4991A>G	8.37:g.103298812T>C	ENSP00000429084:p.Asp1664Gly		103367988	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809546	0.70797	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.54479	0.58;0.58;0.57	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	L	0.42245	1.32	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.68191	-0.5474	10	0.72032	D	0.01	.	16.243	0.82426	0.0:0.0:0.0:1.0	.	1658;1664	E7EMW7;O95071	.;UBR5_HUMAN	G	1664;1664;1658	ENSP00000429084:D1664G;ENSP00000220959:D1664G;ENSP00000427819:D1658G	ENSP00000220959:D1664G	D	-	2	0	UBR5	103367988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.238000	0.73509	0.533000	0.62120	GAT		0.348	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		C	103298812	T	C	103298812	3	2	420	1	0	0	0	0	1	0	0	0	16905	1435	50	4	3496	4	UBR5	8	103298812	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	16136400	103298812	43065210	62	23046											
NTRK2	4915	genome.wustl.edu	37	9	87342578	87342578	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr9:87342578C>T	ENST00000323115.4	+	8	1216	c.863C>T	c.(862-864)aCt>aTt	p.T288I	NTRK2_ENST00000376208.1_Missense_Mutation_p.T288I|NTRK2_ENST00000395882.1_Missense_Mutation_p.T288I|NTRK2_ENST00000359847.3_Missense_Mutation_p.T288I|NTRK2_ENST00000304053.6_Missense_Mutation_p.T288I|NTRK2_ENST00000277120.3_Missense_Mutation_p.T288I|NTRK2_ENST00000376213.1_Missense_Mutation_p.T288I|NTRK2_ENST00000395866.2_Missense_Mutation_p.T132I|NTRK2_ENST00000376214.1_Missense_Mutation_p.T288I			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	288					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	GTTGCACCAACTATCACATTT	0.438										TSP Lung(25;0.17)																																						0			9											63	62	62					9																	87342578		2203	4300	6503	86532398	SO:0001583	missense	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.863C>T	9.37:g.87342578C>T	ENSP00000314586:p.Thr288Ile		86532398	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725493	0.30593	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	6.01	6.01	0.97437	.	0.104814	0.64402	D	0.000004	T	0.43322	0.1242	L	0.33710	1.025	0.31081	N	0.711907	B;B;B;B;B;B;B	0.33044	0.076;0.395;0.395;0.043;0.262;0.38;0.354	B;B;B;B;B;B;B	0.37888	0.031;0.191;0.191;0.041;0.133;0.26;0.044	T	0.53099	-0.8486	10	0.49607	T	0.09	.	8.3814	0.32474	0.1944:0.7291:0.0:0.0765	.	132;288;288;288;288;288;334	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1	.;.;.;.;NTRK2_HUMAN;.;.	I	288;288;288;288;288;288;288;288;132	ENSP00000365387:T288I;ENSP00000365386:T288I;ENSP00000379221:T288I;ENSP00000365381:T288I;ENSP00000306167:T288I;ENSP00000277120:T288I;ENSP00000314586:T288I;ENSP00000352906:T288I;ENSP00000379207:T132I	ENSP00000277120:T288I	T	+	2	0	NTRK2	86532398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.327000	0.43858	2.855000	0.98099	0.585000	0.79938	ACT		0.438	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			T	87342578	C	T	87342578	3	4	420	1	0	0	0	0	1	0	0	0	10707	565	20	2	893	2	NTRK2	9	87342578	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09		87342578	53870853	63	23047											
FBXO18	84893	genome.wustl.edu	37	10	5969461	5969461	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr10:5969461T>G	ENST00000362091.4	+	19	2901	c.2786T>G	c.(2785-2787)cTc>cGc	p.L929R	FBXO18_ENST00000379999.5_Missense_Mutation_p.L980R|FBXO18_ENST00000397269.3_Missense_Mutation_p.L433R	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	929					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAGAAGCGTCTCATCATGACC	0.388																																																0			10											145	129	134					10																	5969461		2203	4300	6503	6009467	SO:0001583	missense	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2786T>G	10.37:g.5969461T>G	ENSP00000355415:p.Leu929Arg		6009467	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112234	0.77210	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.91686	-2.89;-2.89;-2.89	5.46	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.94306	3.52	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96432	0.9320	10	0.87932	D	0	-14.8138	10.3883	0.44154	0.0:0.0784:0.0:0.9216	.	980;929;855	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	R	433;929;980	ENSP00000380439:L433R;ENSP00000355415:L929R;ENSP00000369335:L980R	ENSP00000355415:L929R	L	+	2	0	FBXO18	6009467	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.393000	0.73217	0.914000	0.36822	0.456000	0.33151	CTC		0.388	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		G	5969461	T	G	5969461	3	3	420	1	0	0	0	0	1	0	0	0	5731	1551	54	5	3022	5	FBXO18	10	5969461	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09		5969461	129565286	64	23048											
GOT1	2805	genome.wustl.edu	37	10	101180491	101180509	+	Frame_Shift_Del	DEL	CATTAGCAATCTTCTGCTC	CATTAGCAATCTTCTGCTC	-	rs376034578|rs201941343		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	CATTAGCAATCTTCTGCTC	CATTAGCAATCTTCTGCTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr10:101180491_101180509delCATTAGCAATCTTCTGCTC	ENST00000370508.5	-	2	199_217	c.172_190delGAGCAGAAGATTGCTAATG	c.(172-192)gagcagaagattgctaatgacfs	p.EQKIAND58fs	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Frame_Shift_Del_p.EQKIAND37fs	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	58					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	AGGCTATTGTCATTAGCAATCTTCTGCTCCACTTTCTTC	0.507																																					Melanoma(173;770 3544 21601)											0			10																																								101170499	SO:0001589	frameshift_variant	2805			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.172_190delGAGCAGAAGATTGCTAATG	10.37:g.101180491_101180509delCATTAGCAATCTTCTGCTC	ENSP00000359539:p.Glu58fs		101170481	B2R6R7|B7Z7E9|Q5VW80	Frame_Shift_Del	DEL	ENST00000370508.5	37	CCDS7479.1																																																																																				0.507	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		-	101180509	CATTAGCAATCTTCTGCTC	-	101180491	7	5	420	1	0	1	0	1	0	0	0	0	6579	826	29	0	1083	0	GOT1	10	101180491	Frame_Shift_Del	DEL	CATTAGCAATCTTCTGCTC	TCGA-61-1727-01A-01W-0639-09	95211030	101180491	34354256	65	23049											
DCHS1	8642	genome.wustl.edu	37	11	6661584	6661584	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr11:6661584T>G	ENST00000299441.3	-	2	1672	c.1261A>C	c.(1261-1263)Atc>Ctc	p.I421L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGATAGATGACGCTGTCT	0.567																																																0			11											52	47	49					11																	6661584		2201	4296	6497	6618160	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1261A>C	11.37:g.6661584T>G	ENSP00000299441:p.Ile421Leu		6618160	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941580	0.53079	.	.	ENSG00000166341	ENST00000299441	T	0.14640	2.49	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.000000	0.46145	D	0.000311	T	0.22085	0.0532	N	0.21282	0.65	0.49389	D	0.999785	P	0.44478	0.836	D	0.66084	0.941	T	0.09618	-1.0666	10	0.13108	T	0.6	.	15.0866	0.72158	0.0:0.0:0.0:1.0	.	421	Q96JQ0	PCD16_HUMAN	L	421	ENSP00000299441:I421L	ENSP00000299441:I421L	I	-	1	0	DCHS1	6618160	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.150000	0.58098	2.150000	0.67090	0.519000	0.50382	ATC		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		G	6661584	T	G	6661584	3	3	420	1	0	0	0	0	1	0	0	0	4287	1464	51	5	8715	5	DCHS1	11	6661584	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09		6661584	128344932	66	23050											
NLRP10	338322	genome.wustl.edu	37	11	7981543	7981543	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr11:7981543G>T	ENST00000328600.2	-	2	1777	c.1616C>A	c.(1615-1617)cCc>cAc	p.P539H		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	539					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCTAAACAGGGAGAAATTCT	0.418																																																0			11											65	64	64					11																	7981543		2201	4296	6497	7938119	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1616C>A	11.37:g.7981543G>T	ENSP00000327763:p.Pro539His		7938119	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218715	0.39201	.	.	ENSG00000182261	ENST00000328600	D	0.89050	-2.46	4.58	3.65	0.41850	.	0.000000	0.35124	N	0.003424	D	0.83510	0.5270	L	0.29908	0.895	0.09310	N	1	P	0.51147	0.942	P	0.46389	0.515	T	0.76825	-0.2816	10	0.56958	D	0.05	.	9.2168	0.37353	0.1088:0.0:0.8912:0.0	.	539	Q86W26	NAL10_HUMAN	H	539	ENSP00000327763:P539H	ENSP00000327763:P539H	P	-	2	0	NLRP10	7938119	0.650000	0.27331	0.016000	0.15963	0.237000	0.25408	3.005000	0.49521	2.283000	0.76528	0.563000	0.77884	CCC		0.418	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		T	7981543	G	T	7981543	3	4	420	1	0	0	0	0	1	0	0	0	10472	1232	43	3	355	3	NLRP10	11	7981543	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	1319959	7981543	127024973	67	23051											
OR8H3	390152	genome.wustl.edu	37	11	55890455	55890455	+	Missense_Mutation	SNP	G	G	A	rs377459055	byFrequency	TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr11:55890455G>A	ENST00000313472.3	+	1	607	c.607G>A	c.(607-609)Gct>Act	p.A203T		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATTCATTATCGCTGGTTCCAC	0.408																																																0			11						G	THR/ALA	0,4402		0,0,2201	221	199	206		607	2.7	0	11		206	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR8H3	NM_001005201.1	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	203/313	55890455	1,12993	2201	4296	6497	55647031	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.607G>A	11.37:g.55890455G>A	ENSP00000323928:p.Ala203Thr		55647031	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041086	0.55003	0.0	1.16E-4	ENSG00000181761	ENST00000313472	T	0.37752	1.18	3.62	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.123056	0.37577	N	0.002030	T	0.42381	0.1200	L	0.41824	1.3	0.22142	N	0.999334	P	0.52842	0.956	P	0.56434	0.798	T	0.25082	-1.0142	10	0.66056	D	0.02	.	11.3602	0.49638	0.0928:0.0:0.9072:0.0	.	203	Q8N146	OR8H3_HUMAN	T	203	ENSP00000323928:A203T	ENSP00000323928:A203T	A	+	1	0	OR8H3	55647031	0.000000	0.05858	0.038000	0.18304	0.398000	0.30690	0.283000	0.18846	0.627000	0.30340	0.173000	0.16961	GCT		0.408	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		A	55890455	G	A	55890455	3	1	420	1	0	0	0	0	1	0	0	0	11239	1087	38	1	609	1	OR8H3	11	55890455	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	47908912	55890455	79116061	68	23052											
P4HA3	283208	genome.wustl.edu	37	11	74009311	74009311	+	Silent	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr11:74009311C>T	ENST00000331597.4	-	4	708	c.663G>A	c.(661-663)gaG>gaA	p.E221E	P4HA3_ENST00000427714.2_Silent_p.E221E	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	221						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TTGCCTCATCCTCTGTCTTCC	0.473																																																0			11											115	101	106					11																	74009311		2200	4293	6493	73686959	SO:0001819	synonymous_variant	283208			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.663G>A	11.37:g.74009311C>T			73686959	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Silent	SNP	ENST00000331597.4	37	CCDS8230.1																																																																																				0.473	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		T	74009311	C	T	74009311	2	4	420	1	0	0	0	0	0	0	0	1	11358	680	24	2		2	P4HA3	11	74009311	Silent	SNP	C	TCGA-61-1727-01A-01W-0639-09	18118856	74009311	60997205	69	23053											
DYNC2H1	79659	genome.wustl.edu	37	11	103153793	103153793	+	Silent	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr11:103153793C>T	ENST00000375735.2	+	73	11013	c.10869C>T	c.(10867-10869)agC>agT	p.S3623S	DYNC2H1_ENST00000398093.3_Silent_p.S3630S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3623					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGGAACGAAGCTGGGCCGTGG	0.343																																																0			11											75	76	76					11																	103153793		1857	4084	5941	102659003	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10869C>T	11.37:g.103153793C>T			102659003	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																				0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103153793	C	T	103153793	2	4	420	1	0	0	0	0	0	0	0	1	4846	796	28	2		2	DYNC2H1	11	103153793	Silent	SNP	C	TCGA-61-1727-01A-01W-0639-09	29144482	103153793	31852723	70	23054											
ATM	472	genome.wustl.edu	37	11	108178698	108178718	+	Splice_Site	DEL	AGAAGACAAAAGAGGTAATGT	AGAAGACAAAAGAGGTAATGT	-	rs148064985|rs377289524	byFrequency	TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	AGAAGACAAAAGAGGTAATGT	AGAAGACAAAAGAGGTAATGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr11:108178698_108178718delAGAAGACAAAAGAGGTAATGT	ENST00000452508.2	+	39	5938_5951	c.5749_5762delAGAAGACAAAAGAGGTAATGT	c.(5749-5763)agaagacaaaagagg>g	p.RRQKR1917del	ATM_ENST00000278616.4_Splice_Site_p.RRQKR1917del			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1917					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGACTACATGAGAAGACAAAAGAGGTAATGTAATGAGTGTT	0.362			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0			11	GRCh37	CM980145	ATM	M																																				107683928	SO:0001630	splice_region_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5762+1AGAAGACAAAAGAGGTAATGT>-	11.37:g.108178698_108178718delAGAAGACAAAAGAGGTAATGT			107683908	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	CCDS31669.1																																																																																				0.362	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	In_Frame_Del	-	108178718	AGAAGACAAAAGAGGTAATGT	-	108178698	8	5	420	1	0	1	0	1	0	0	1	0	1109	296	11	0	5895	0	ATM	11	108178698	Splice_Site	DEL	AGAAGACAAAAGAGGTAATGT	TCGA-61-1727-01A-01W-0639-09	5024905	108178698	26827818	71	23055											
GRIK4	2900	genome.wustl.edu	37	11	120833301	120833301	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr11:120833301T>A	ENST00000527524.2	+	18	2464	c.2177T>A	c.(2176-2178)aTg>aAg	p.M726K	GRIK4_ENST00000438375.2_Missense_Mutation_p.M726K	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	726					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GAATCCACCATGAACGAGTAC	0.552																																																0			11											94	89	91					11																	120833301		2203	4299	6502	120338511	SO:0001583	missense	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2177T>A	11.37:g.120833301T>A	ENSP00000435648:p.Met726Lys		120338511	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319292	0.81469	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11169	2.8;2.8	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	L	0.49640	1.575	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.00651	-1.1626	10	0.59425	D	0.04	.	15.6035	0.76642	0.0:0.0:0.0:1.0	.	726;726	A6H8K8;Q16099	.;GRIK4_HUMAN	K	726	ENSP00000435648:M726K;ENSP00000404063:M726K	ENSP00000404063:M726K	M	+	2	0	GRIK4	120338511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.167000	0.64972	2.162000	0.67917	0.533000	0.62120	ATG		0.552	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		A	120833301	T	A	120833301	3	1	420	1	0	0	0	0	1	0	0	0	6776	1464	51	5	2239	5	GRIK4	11	120833301	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	12654603	120833301	14173215	72	23056											
SLC2A14	144195	genome.wustl.edu	37	12	7967095	7967095	+	Silent	SNP	G	G	A	rs113299917	byFrequency	TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr12:7967095G>A	ENST00000543909.1	-	16	2139	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	SLC2A14_ENST00000431042.2_Silent_p.T437T|SLC2A14_ENST00000535295.1_Silent_p.T351T|SLC2A14_ENST00000542505.1_Silent_p.T101T|SLC2A14_ENST00000539924.1_Silent_p.T475T|SLC2A14_ENST00000340749.5_Silent_p.T437T|SLC2A14_ENST00000542546.1_Silent_p.T351T|SLC2A14_ENST00000396589.2_Silent_p.T460T			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	460					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGAGGAAGCCGGTGAAGATAA	0.428													G|||	122	0.024361	8e-04	0.0014	5008	,	,		-128	0.0675		0.003	False		,,,				2504	0.0501															0			12						G		2,4404	4.2+/-10.8	0,2,2201	52	53	52		1380	-5.7	0	12	dbSNP_132	52	9,8591	5.7+/-21.5	0,9,4291	no	coding-synonymous	SLC2A14	NM_153449.2		0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846		460/521	7967095	11,12995	2203	4300	6503	7858362	SO:0001819	synonymous_variant	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1380C>T	12.37:g.7967095G>A			7858362	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	CCDS8585.1																																																																																				0.428	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		A	7967095	G	A	7967095	2	1	420	1	0	0	0	0	0	0	0	1	14546	1103	39	1		1	SLC2A14	12	7967095	Silent	SNP	G	TCGA-61-1727-01A-01W-0639-09		7967095	125884800	73	23057											
B4GALNT1	2583	genome.wustl.edu	37	12	58022020	58022020	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr12:58022020G>A	ENST00000341156.4	-	9	1612	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A288V|B4GALNT1_ENST00000550943.1_5'Flank	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	343					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TTGAGACACGGCCAGGTTCCG	0.617																																																0			12											101	92	95					12																	58022020		2203	4300	6503	56308287	SO:0001583	missense	2583			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1028C>T	12.37:g.58022020G>A	ENSP00000341562:p.Ala343Val		56308287	B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	CCDS8950.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	36|36	5.717388|5.717388	0.96839|0.96839	.|.	.|.	ENSG00000135454|ENSG00000135454	ENST00000341156;ENST00000418555|ENST00000547741	T;T|.	0.65732|.	-0.17;-0.17|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79516|0.79516	0.4459|0.4459	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|T	0.82145|0.82145	-0.0602|-0.0602	10|5	0.72032|.	D|.	0.01|.	-8.3832|-8.3832	16.7708|16.7708	0.85537|0.85537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	288;343|.	B4DE26;Q00973|.	.;B4GN1_HUMAN|.	V|S	343;288|15	ENSP00000341562:A343V;ENSP00000401601:A288V|.	ENSP00000341562:A343V|.	A|P	-|-	2|1	0|0	B4GALNT1|B4GALNT1	56308287|56308287	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.990000|0.990000	0.78478|0.78478	9.014000|9.014000	0.93635|0.93635	2.514000|2.514000	0.84764|0.84764	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.617	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		A	58022020	G	A	58022020	3	1	420	1	0	0	0	0	1	0	0	0	1266	1203	42	2	585	2	B4GALNT1	12	58022020	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	50054925	58022020	75829875	74	23058											
LRRIQ1	84125	genome.wustl.edu	37	12	85438509	85438509	+	Silent	SNP	A	A	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr12:85438509A>G	ENST00000393217.2	+	4	319	c.258A>G	c.(256-258)ggA>ggG	p.G86G		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	86										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTAGTTATGGAGCAGTTTCTA	0.274																																																0			12											57	62	60					12																	85438509		2190	4244	6434	83962640	SO:0001819	synonymous_variant	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.258A>G	12.37:g.85438509A>G			83962640	Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	CCDS41816.1																																																																																				0.274	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		G	85438509	A	G	85438509	2	3	420	1	0	0	0	0	0	0	0	1	9029	291	11	4		4	LRRIQ1	12	85438509	Silent	SNP	A	TCGA-61-1727-01A-01W-0639-09	27416489	85438509	48413386	75	23059											
NAA25	80018	genome.wustl.edu	37	12	112509774	112509774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr12:112509774G>A	ENST00000261745.4	-	10	1209	c.961C>T	c.(961-963)Cga>Tga	p.R321*	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	321						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGTGGTCCTCGGAGATGGCGA	0.408																																																0			12											164	132	142					12																	112509774		2203	4300	6503	110994157	SO:0001587	stop_gained	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.961C>T	12.37:g.112509774G>A	ENSP00000261745:p.Arg321*		110994157	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	38	7.154691	0.98099	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.8	4.91	0.64330	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1688	13.906	0.63836	0.0:0.0:0.7226:0.2774	.	.	.	.	X	321	.	ENSP00000261745:R321X	R	-	1	2	NAA25	110994157	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.928000	0.48908	1.439000	0.47511	-0.181000	0.13052	CGA		0.408	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		A	112509774	G	A	112509774	4	1	420	1	0	0	0	0	0	1	0	0	10121	1124	39	1	2017	1	NAA25	12	112509774	Nonsense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	27071265	112509774	21342121	76	23060											
MAP3K9	4293	genome.wustl.edu	37	14	71267537	71267537	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr14:71267537C>T	ENST00000554752.2	-	2	666	c.667G>A	c.(667-669)Gct>Act	p.A223T	MAP3K9_ENST00000555993.2_Missense_Mutation_p.A223T|MAP3K9_ENST00000381250.4_Missense_Mutation_p.A223T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCTCCACGAGCAAACTCCATG	0.517																																					GBM(114;411 1587 13539 28235 50070)											0			14											101	90	94					14																	71267537		2203	4300	6503	70337290	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.667G>A	14.37:g.71267537C>T	ENSP00000451612:p.Ala223Thr		70337290	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37		.	.	.	.	.	.	.	.	.	.	C	35	5.450145	0.96205	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.89681	-2.55;-2.55	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96034	0.8708	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.96018	0.9007	10	0.72032	D	0.01	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	223;223	P80192;P80192-4	M3K9_HUMAN;.	T	223	ENSP00000451612:A223T;ENSP00000370649:A223T	ENSP00000005198:A223T	A	-	1	0	MAP3K9	70337290	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.691000	0.84191	2.814000	0.96858	0.655000	0.94253	GCT		0.517	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			T	71267537	C	T	71267537	3	4	420	1	0	0	0	0	1	0	0	0	9257	710	25	2	2737	2	MAP3K9	14	71267537	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09		71267537	36082003	77	23061											
MOAP1	64112	genome.wustl.edu	37	14	93650125	93650141	+	Frame_Shift_Del	DEL	GCTGAAGAGCCTCTAAT	GCTGAAGAGCCTCTAAT	-	rs148364724		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	GCTGAAGAGCCTCTAAT	GCTGAAGAGCCTCTAAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr14:93650125_93650141delGCTGAAGAGCCTCTAAT	ENST00000556883.1	-	2	931_947	c.447_463delATTAGAGGCTCTTCAGC	c.(445-465)gcattagaggctcttcagcctfs	p.LEALQP150fs	MOAP1_ENST00000298894.4_Frame_Shift_Del_p.LEALQP150fs|TMEM251_ENST00000283534.4_5'Flank|TMEM251_ENST00000415050.2_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	150					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tgcagggcaggctgaagagcctctaatgcctgtgcca	0.516																																																0			14																																								92719894	SO:0001589	frameshift_variant	64112			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.447_463delATTAGAGGCTCTTCAGC	14.37:g.93650125_93650141delGCTGAAGAGCCTCTAAT	ENSP00000451594:p.Leu150fs		92719878	B2RDF6|Q9H833|Q9HAS1	Frame_Shift_Del	DEL	ENST00000556883.1	37	CCDS9908.1																																																																																				0.516	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			-	93650141	GCTGAAGAGCCTCTAAT	-	93650125	7	5	420	1	0	1	0	1	0	0	0	0	9680	1203	42	0	596	0	MOAP1	14	93650125	Frame_Shift_Del	DEL	GCTGAAGAGCCTCTAAT	TCGA-61-1727-01A-01W-0639-09	22382588	93650125	13699415	78	23062											
DYNC1H1	1778	genome.wustl.edu	37	14	102499420	102499420	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr14:102499420G>C	ENST00000360184.4	+	53	10262	c.10098G>C	c.(10096-10098)aaG>aaC	p.K3366N	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3366	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TAAGGGAGAAGATGAAGAAAA	0.398																																																0			14											97	93	94					14																	102499420		2203	4300	6503	101569173	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10098G>C	14.37:g.102499420G>C	ENSP00000348965:p.Lys3366Asn		101569173	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854760	0.51376	.	.	ENSG00000197102	ENST00000360184	T	0.74106	-0.81	5.36	4.46	0.54185	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.76983	0.4064	M	0.81942	2.565	0.80722	D	1	P	0.43431	0.807	P	0.45099	0.469	T	0.75119	-0.3430	10	0.24483	T	0.36	.	12.4306	0.55571	0.1416:0.0:0.8584:0.0	.	3366	Q14204	DYHC1_HUMAN	N	3366	ENSP00000348965:K3366N	ENSP00000348965:K3366N	K	+	3	2	DYNC1H1	101569173	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.902000	0.48703	1.259000	0.44117	0.467000	0.42956	AAG		0.398	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		C	102499420	G	C	102499420	3	2	420	1	0	0	0	0	1	0	0	0	4841	933	33	3	10308	3	DYNC1H1	14	102499420	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	8849295	102499420	4850120	79	23063											
SNX1	6642	genome.wustl.edu	37	15	64428539	64428539	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr15:64428539G>A	ENST00000559844.1	+	13	1390	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	SNX1_ENST00000353874.4_Missense_Mutation_p.R411Q|SNX1_ENST00000560829.1_Missense_Mutation_p.R241Q|SNX1_ENST00000261889.5_Missense_Mutation_p.R459Q|SNX1_ENST00000561026.1_Missense_Mutation_p.R394Q			Q13596	SNX1_HUMAN	sorting nexin 1	459	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.R459P(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TGGGAGTCTCGGGTGACTCAA	0.428																																																1	Substitution - Missense(1)	breast(1)	15											137	131	133					15																	64428539		2203	4300	6503	62215592	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1376G>A	15.37:g.64428539G>A	ENSP00000453785:p.Arg459Gln		62215592	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573565	0.65765	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.39997	1.05	6.02	6.02	0.97574	Vps5 C-terminal (1);	0.103433	0.64402	D	0.000002	T	0.50922	0.1644	L	0.34521	1.04	0.46478	D	0.999068	D;P;D;D;P;D	0.61697	0.99;0.942;0.973;0.974;0.954;0.973	P;B;P;B;P;P	0.56088	0.791;0.322;0.684;0.406;0.593;0.608	T	0.48080	-0.9066	10	0.66056	D	0.02	-0.3917	19.5289	0.95219	0.0:0.0:1.0:0.0	.	459;369;459;394;411;459	Q6ZRJ8;Q59GU6;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;SNX1_HUMAN	Q	459;411;394	ENSP00000326668:R411Q	ENSP00000261889:R394Q	R	+	2	0	SNX1	62215592	0.998000	0.40836	1.000000	0.80357	0.910000	0.53928	2.939000	0.48995	2.865000	0.98341	0.655000	0.94253	CGG		0.428	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		A	64428539	G	A	64428539	3	1	420	1	0	0	0	0	1	0	0	0	14883	1116	39	1	1426	1	SNX1	15	64428539	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09		64428539	38102853	80	23064											
DIS3L	115752	genome.wustl.edu	37	15	66615156	66615156	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr15:66615156T>A	ENST00000319212.4	+	10	1508	c.1458T>A	c.(1456-1458)gaT>gaA	p.D486E	DIS3L_ENST00000319194.5_Missense_Mutation_p.D403E|DIS3L_ENST00000441424.2_3'UTR|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	486					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGATGTGGATGACACACTCT	0.443																																																0			15											124	109	114					15																	66615156		2201	4299	6500	64402210	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1458T>A	15.37:g.66615156T>A	ENSP00000321711:p.Asp486Glu		64402210	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.551533	0.86127	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.77877	-1.13;-1.13	5.85	-5.28	0.02755	Ribonuclease II/R (2);	0.043614	0.85682	N	0.000000	D	0.88358	0.6415	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85848	0.1402	10	0.87932	D	0	-5.6875	8.8819	0.35380	0.0:0.4068:0.106:0.4871	.	486;352;486	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	E	403;486	ENSP00000321583:D403E;ENSP00000321711:D486E	ENSP00000321583:D403E	D	+	3	2	DIS3L	64402210	0.999000	0.42202	0.402000	0.26371	0.964000	0.63967	0.586000	0.23894	-1.418000	0.02014	-0.290000	0.09829	GAT		0.443	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		A	66615156	T	A	66615156	3	1	420	1	0	0	0	0	1	0	0	0	4536	1461	51	5	1496	5	DIS3L	15	66615156	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	2186617	66615156	35916236	81	23065											
MESP2	145873	genome.wustl.edu	37	15	90320119	90320119	+	Silent	SNP	G	G	A	rs75049807	byFrequency	TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr15:90320119G>A	ENST00000341735.3	+	1	531	c.531G>A	c.(529-531)gcG>gcA	p.A177A	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	177					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			AGACGCaggcggaggggcagg	0.776													G|||	171	0.0341454	0.0098	0.0288	5008	,	,		11569	0.0556		0.0388	False		,,,				2504	0.044															0			15						G		36,2618		0,36,1291	3	3	3		531	1.2	0	15	dbSNP_131	3	296,6132		2,292,2920	no	coding-synonymous	MESP2	NM_001039958.1		2,328,4211	AA,AG,GG		4.6049,1.3564,3.6556		177/398	90320119	332,8750	1327	3214	4541	88121123	SO:0001819	synonymous_variant	145873				CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.531G>A	15.37:g.90320119G>A			88121123	Q7RTU2	Silent	SNP	ENST00000341735.3	37	CCDS42078.1																																																																																				0.776	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90320119	G	A	90320119	2	1	420	1	0	0	0	0	0	0	0	1	9483	1103	39	1		1	MESP2	15	90320119	Silent	SNP	G	TCGA-61-1727-01A-01W-0639-09	23704963	90320119	12211273	82	23066											
SV2B	9899	genome.wustl.edu	37	15	91811786	91811786	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr15:91811786T>C	ENST00000394232.1	+	9	1794	c.1324T>C	c.(1324-1326)Ttc>Ctc	p.F442L	SV2B_ENST00000545111.2_Missense_Mutation_p.F291L|SV2B_ENST00000330276.4_Missense_Mutation_p.F442L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	442					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CACAATCAACTTCACGATGGA	0.433																																																0			15											133	130	131					15																	91811786		2198	4298	6496	89612790	SO:0001583	missense	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1324T>C	15.37:g.91811786T>C	ENSP00000377779:p.Phe442Leu		89612790	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735636	0.69189	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.38240	1.15;1.15;1.15	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	L	0.59436	1.845	0.80722	D	1	P	0.35456	0.502	B	0.34722	0.188	T	0.11494	-1.0585	10	0.23302	T	0.38	-26.7181	14.4534	0.67401	0.0:0.0:0.0:1.0	.	442	Q7L1I2	SV2B_HUMAN	L	291;442;442	ENSP00000443243:F291L;ENSP00000377779:F442L;ENSP00000332818:F442L	ENSP00000332818:F442L	F	+	1	0	SV2B	89612790	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.747000	0.85070	2.140000	0.66376	0.533000	0.62120	TTC		0.433	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		C	91811786	T	C	91811786	3	2	420	1	0	0	0	0	1	0	0	0	15418	1609	56	4	1354	4	SV2B	15	91811786	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	1491667	91811786	10719606	83	23067											
SRRM2	23524	genome.wustl.edu	37	16	2813842	2813842	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr16:2813842G>T	ENST00000301740.8	+	11	3862	c.3313G>T	c.(3313-3315)Gtc>Ttc	p.V1105F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1105	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTCATCTCCAGTCACTGAGCT	0.473																																																0			16											83	84	84					16																	2813842		2198	4300	6498	2753843	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3313G>T	16.37:g.2813842G>T	ENSP00000301740:p.Val1105Phe		2753843	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	1.891	-0.455409	0.04540	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.92858	-3.12	5.92	-11.8	0.00035	.	1.156660	0.06280	N	0.697170	D	0.83533	0.5275	L	0.29908	0.895	0.09310	N	1	B	0.25169	0.119	B	0.24701	0.055	T	0.72235	-0.4352	10	0.56958	D	0.05	0.0607	10.0631	0.42286	0.5859:0.066:0.2815:0.0666	.	1105	Q9UQ35	SRRM2_HUMAN	F	1105;1105;357	ENSP00000301740:V1105F	ENSP00000301740:V1105F	V	+	1	0	SRRM2	2753843	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-3.760000	0.00373	-2.969000	0.00287	-3.325000	0.00044	GTC		0.473	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2813842	G	T	2813842	3	4	420	1	0	0	0	0	1	0	0	0	15171	1029	36	3	3351	3	SRRM2	16	2813842	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09		2813842	87540911	84	23068											
CACNG3	10368	genome.wustl.edu	37	16	24373065	24373065	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr16:24373065G>C	ENST00000005284.3	+	4	2031	c.829G>C	c.(829-831)Ggg>Cgg	p.G277R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	277					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GATCACCATGGGGACCCTCCT	0.542																																																0			16											105	112	110					16																	24373065		2197	4300	6497	24280566	SO:0001583	missense	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.829G>C	16.37:g.24373065G>C	ENSP00000005284:p.Gly277Arg		24280566		Missense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	g	18.55	3.649152	0.67358	.	.	ENSG00000006116	ENST00000005284	T	0.55760	0.5	4.93	4.93	0.64822	.	0.299246	0.35739	N	0.003017	T	0.53286	0.1787	L	0.51422	1.61	0.54753	D	0.999982	P	0.48503	0.911	P	0.45037	0.467	T	0.54214	-0.8327	10	0.36615	T	0.2	-15.4374	17.8078	0.88607	0.0:0.0:1.0:0.0	.	277	O60359	CCG3_HUMAN	R	277	ENSP00000005284:G277R	ENSP00000005284:G277R	G	+	1	0	CACNG3	24280566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.369000	0.73109	2.266000	0.75297	0.645000	0.84053	GGG		0.542	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		C	24373065	G	C	24373065	3	2	420	1	0	0	0	0	1	0	0	0	2558	1232	43	3	843	3	CACNG3	16	24373065	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	21559223	24373065	65981688	85	23069											
ESRP2	80004	genome.wustl.edu	37	16	68265861	68265861	+	Silent	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr16:68265861C>G	ENST00000565858.1	-	10	1259	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L	ESRP2_ENST00000473183.2_Silent_p.L381L|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	391	RRM 2.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCACAAAGAGCAGCCCCTCGG	0.662																																																0			16											45	44	44					16																	68265861		2198	4300	6498	66823362	SO:0001819	synonymous_variant	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1173G>C	16.37:g.68265861C>G			66823362	Q8N6H8|Q8WZ15|Q9H6I4	Silent	SNP	ENST00000565858.1	37																																																																																					0.662	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		G	68265861	C	G	68265861	2	3	420	1	0	0	0	0	0	0	0	1	5259	697	25	3		3	ESRP2	16	68265861	Silent	SNP	C	TCGA-61-1727-01A-01W-0639-09	43892796	68265861	22088892	86	23070											
OR3A3	8392	genome.wustl.edu	37	17	3324139	3324139	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr17:3324139G>A	ENST00000291231.1	+	1	278	c.278G>A	c.(277-279)cGt>cAt	p.R93H		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	93					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ATGTTGGGTCGTCTCTTGTCC	0.557																																																0			17																																								3270889	SO:0001583	missense	8392			U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.278G>A	17.37:g.3324139G>A	ENSP00000291231:p.Arg93His		3270889	Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	G	6.873	0.530424	0.13127	.	.	ENSG00000159961	ENST00000291231	T	0.00402	7.56	2.7	-4.93	0.03066	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.00389	-1.56	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.36744	-0.9735	9	0.54805	T	0.06	.	6.4836	0.22077	0.6798:0.0:0.1817:0.1386	.	93	P47888	OR3A3_HUMAN	H	93	ENSP00000291231:R93H	ENSP00000291231:R93H	R	+	2	0	OR3A3	3270889	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.830000	0.01699	-1.210000	0.02627	-1.000000	0.02509	CGT		0.557	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			A	3324139	G	A	3324139	3	1	420	1	0	0	0	0	1	0	0	0	11039	1145	40	1	280	1	OR3A3	17	3324139	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09		3324139	77871071	87	23071											
SCO1	6341	genome.wustl.edu	37	17	10596253	10596253	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr17:10596253G>C	ENST00000255390.5	-	3	450	c.390C>G	c.(388-390)caC>caG	p.H130Q	SCO1_ENST00000577427.1_Missense_Mutation_p.H130Q|SCO1_ENST00000582053.1_5'UTR	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	130	Important for dimerization.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						GCTTGCCGATGTGTCGCTGCC	0.423																																					Melanoma(128;591 1731 19711 31891 44645)											0			17											69	61	64					17																	10596253		2203	4300	6503	10536978	SO:0001583	missense	6341			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.390C>G	17.37:g.10596253G>C	ENSP00000255390:p.His130Gln		10536978	B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.253493	0.01457	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.93712	-3.27	6.17	2.99	0.34606	Thioredoxin-like fold (1);	0.373274	0.33290	N	0.005063	T	0.76485	0.3994	N	0.00980	-1.08	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.65772	-0.6087	10	0.16420	T	0.52	-1.0262	7.5189	0.27616	0.1187:0.1028:0.6737:0.1048	.	130;130	A8MY34;O75880	.;SCO1_HUMAN	Q	130	ENSP00000255390:H130Q	ENSP00000255390:H130Q	H	-	3	2	SCO1	10536978	0.956000	0.32656	0.352000	0.25734	0.002000	0.02628	1.785000	0.38684	0.497000	0.27926	-0.795000	0.03280	CAC		0.423	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		C	10596253	G	C	10596253	3	2	420	1	0	0	0	0	1	0	0	0	13934	1368	48	3	531	3	SCO1	17	10596253	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	7272114	10596253	70598957	88	23072											
KRT27	342574	genome.wustl.edu	37	17	38933846	38933846	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr17:38933846A>G	ENST00000301656.3	-	6	1151	c.1111T>C	c.(1111-1113)Tat>Cat	p.Y371H	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCTGCTCATACTCGAGCTTC	0.547																																																0			17											150	149	149					17																	38933846		2203	4300	6503	36187372	SO:0001583	missense	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1111T>C	17.37:g.38933846A>G	ENSP00000301656:p.Tyr371His		36187372		Missense_Mutation	SNP	ENST00000301656.3	37	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222925	0.58668	.	.	ENSG00000171446	ENST00000301656	D	0.96774	-4.12	5.56	3.36	0.38483	Filament (1);	0.000000	0.64402	D	0.000018	D	0.96122	0.8736	M	0.77406	2.37	0.44852	D	0.997867	P	0.40180	0.705	P	0.46975	0.533	D	0.94002	0.7276	10	0.51188	T	0.08	.	9.3049	0.37870	0.8538:0.0:0.1462:0.0	.	371	Q7Z3Y8	K1C27_HUMAN	H	371	ENSP00000301656:Y371H	ENSP00000301656:Y371H	Y	-	1	0	KRT27	36187372	1.000000	0.71417	0.989000	0.46669	0.722000	0.41435	5.891000	0.69782	0.487000	0.27698	-0.256000	0.11100	TAT		0.547	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		G	38933846	A	G	38933846	3	3	420	1	0	0	0	0	1	0	0	0	8464	391	14	4	280	4	KRT27	17	38933846	Missense_Mutation	SNP	A	TCGA-61-1727-01A-01W-0639-09	28337593	38933846	42261364	89	23073											
ITGA3	3675	genome.wustl.edu	37	17	48153693	48153693	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr17:48153693A>C	ENST00000320031.8	+	13	2008	c.1678A>C	c.(1678-1680)Aac>Cac	p.N560H	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Missense_Mutation_p.N560H	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	560					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCCCCAGGACAACCTCCGTGA	0.642																																																0			17											107	101	103					17																	48153693		2203	4300	6503	45508692	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1678A>C	17.37:g.48153693A>C	ENSP00000315190:p.Asn560His		45508692	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982535	0.74474	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.52754	0.65;0.65	5.3	5.3	0.74995	Integrin alpha-2 (1);	0.104529	0.64402	D	0.000004	T	0.65344	0.2682	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.69479	0.964;0.949	T	0.68914	-0.5283	10	0.59425	D	0.04	.	7.7695	0.28999	0.9093:0.0:0.0907:0.0	.	560;560	P26006-1;P26006	.;ITA3_HUMAN	H	560;546;560	ENSP00000007722:N560H;ENSP00000315190:N560H	ENSP00000007722:N560H	N	+	1	0	ITGA3	45508692	0.990000	0.36364	1.000000	0.80357	0.955000	0.61496	2.334000	0.43920	2.225000	0.72522	0.533000	0.62120	AAC		0.642	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		C	48153693	A	C	48153693	3	2	420	1	0	0	0	0	1	0	0	0	7877	130	5	5	1728	5	ITGA3	17	48153693	Missense_Mutation	SNP	A	TCGA-61-1727-01A-01W-0639-09	9219847	48153693	33041517	90	23074											
GPR142	350383	genome.wustl.edu	37	17	72365698	72365698	+	Missense_Mutation	SNP	G	G	A	rs145323799	byFrequency	TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr17:72365698G>A	ENST00000335666.4	+	2	383	c.335G>A	c.(334-336)cGg>cAg	p.R112Q		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	112						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGGGAGCTGCGGGGACCCTCA	0.592													G|||	3	0.000599042	8e-04	0.0029	5008	,	,		16136	0		0	False		,,,				2504	0															0			17						G	GLN/ARG	3,4333		0,3,2165	47	38	41		335	-3.1	0	17	dbSNP_134	41	6,8498		0,6,4246	yes	missense	GPR142	NM_181790.1	43	0,9,6411	AA,AG,GG		0.0706,0.0692,0.0701	benign	112/463	72365698	9,12831	2168	4252	6420	69877293	SO:0001583	missense	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.335G>A	17.37:g.72365698G>A	ENSP00000335158:p.Arg112Gln		69877293	A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393910	0.62066	6.92E-4	7.06E-4	ENSG00000257008	ENST00000335666	T	0.68479	-0.33	3.58	-3.08	0.05347	.	.	.	.	.	T	0.38374	0.1038	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.13953	-1.0490	9	0.39692	T	0.17	.	4.2504	0.10691	0.3907:0.0:0.4503:0.159	.	112	Q7Z601	GP142_HUMAN	Q	112	ENSP00000335158:R112Q	ENSP00000335158:R112Q	R	+	2	0	GPR142	69877293	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-0.367000	0.07553	-0.535000	0.06307	0.556000	0.70494	CGG		0.592	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		A	72365698	G	A	72365698	3	1	420	1	0	0	0	0	1	0	0	0	6650	1116	39	1	341	1	GPR142	17	72365698	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	24212005	72365698	8829512	91	23075											
EPB41L3	23136	genome.wustl.edu	37	18	5415930	5415930	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr18:5415930A>G	ENST00000341928.2	-	13	2294	c.1954T>C	c.(1954-1956)Tac>Cac	p.Y652H	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.Y652H	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	652	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTGAGAGCGTATGGCACTGAG	0.577																																																0			18											176	124	142					18																	5415930		2203	4300	6503	5405930	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1954T>C	18.37:g.5415930A>G	ENSP00000343158:p.Tyr652His		5405930	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554291	0.45487	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.81659	-1.52;-1.52	5.52	5.52	0.82312	.	0.604873	0.16721	N	0.202246	T	0.71230	0.3315	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.12156	0.007	T	0.67341	-0.5695	10	0.62326	D	0.03	.	15.6572	0.77150	1.0:0.0:0.0:0.0	.	652	Q9Y2J2	E41L3_HUMAN	H	652	ENSP00000343158:Y652H;ENSP00000341138:Y652H	ENSP00000343158:Y652H	Y	-	1	0	EPB41L3	5405930	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	9.339000	0.96797	2.091000	0.63221	0.460000	0.39030	TAC		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		G	5415930	A	G	5415930	3	3	420	1	0	0	0	0	1	0	0	0	5154	449	16	4	1349	4	EPB41L3	18	5415930	Missense_Mutation	SNP	A	TCGA-61-1727-01A-01W-0639-09		5415930	72661318	92	23076											
DSG3	1830	genome.wustl.edu	37	18	29046618	29046618	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr18:29046618G>A	ENST00000257189.4	+	11	1620	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	513					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTTGTCTCCGCTAGAACACT	0.448																																																0			18											136	122	127					18																	29046618		2203	4300	6503	27300616	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1537G>A	18.37:g.29046618G>A	ENSP00000257189:p.Ala513Thr		27300616	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980488	0.53827	.	.	ENSG00000134757	ENST00000257189	T	0.63417	-0.04	5.73	3.01	0.34805	.	0.638909	0.13488	N	0.384184	T	0.72374	0.3452	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	D	0.65010	0.931	T	0.61143	-0.7122	10	0.59425	D	0.04	.	10.6779	0.45797	0.2073:0.0:0.7927:0.0	.	513	P32926	DSG3_HUMAN	T	513	ENSP00000257189:A513T	ENSP00000257189:A513T	A	+	1	0	DSG3	27300616	0.168000	0.22989	0.000000	0.03702	0.001000	0.01503	2.179000	0.42528	0.377000	0.24735	-0.196000	0.12772	GCT		0.448	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		A	29046618	G	A	29046618	3	1	420	1	0	0	0	0	1	0	0	0	4778	1087	38	1	1579	1	DSG3	18	29046618	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	23630688	29046618	49030630	93	23077											
DSG3	1830	genome.wustl.edu	37	18	29052246	29052246	+	Splice_Site	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr18:29052246G>C	ENST00000257189.4	+	13	1980		c.e13-1			NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTTTCACTAGTGGCCCCCCT	0.398																																																0			18											88	93	91					18																	29052246		2203	4300	6503	27306244	SO:0001630	splice_region_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1898-1G>C	18.37:g.29052246G>C			27306244	A8K2V2	Splice_Site	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810555	0.50421	.	.	ENSG00000134757	ENST00000257189	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9134	0.97033	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSG3	27306244	1.000000	0.71417	0.993000	0.49108	0.466000	0.32739	6.411000	0.73298	2.708000	0.92522	0.467000	0.42956	.		0.398	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	Intron	C	29052246	G	C	29052246	5	2	420	1	0	0	0	0	0	0	1	0	4778	1043	36	3	1947	3	DSG3	18	29052246	Splice_Site	SNP	G	TCGA-61-1727-01A-01W-0639-09	5628	29052246	49025002	94	23078											
MYO5B	4645	genome.wustl.edu	37	18	47566582	47566582	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr18:47566582G>A	ENST00000285039.7	-	3	540	c.241C>T	c.(241-243)Cat>Tat	p.H81Y		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	81	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAGGCTCATGAAGATAGCTA	0.478																																																0			18											270	259	263					18																	47566582		1916	4137	6053	45820580	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.241C>T	18.37:g.47566582G>A	ENSP00000285039:p.His81Tyr		45820580	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645605	0.67358	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.95518	-3.73	5.95	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.969	D	0.99593	1.0976	10	0.87932	D	0	.	15.8934	0.79318	0.0:0.1359:0.8641:0.0	.	80;81	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	Y	81;80	ENSP00000285039:H81Y	ENSP00000285039:H81Y	H	-	1	0	MYO5B	45820580	1.000000	0.71417	0.555000	0.28281	0.596000	0.36781	9.813000	0.99286	1.502000	0.48669	-0.302000	0.09304	CAT		0.478	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			A	47566582	G	A	47566582	3	1	420	1	0	0	0	0	1	0	0	0	10079	1290	45	2	5457	2	MYO5B	18	47566582	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	18514336	47566582	30510666	95	23079											
CXXC1	30827	genome.wustl.edu	37	18	47810142	47810142	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr18:47810142C>A	ENST00000285106.6	-	11	2171	c.1457G>T	c.(1456-1458)tGt>tTt	p.C486F	MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.C490F|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.C486F|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000269468.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	486					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACAGGAAACACAGAAGATCTG	0.567																																																0			18											143	121	128					18																	47810142		2203	4300	6503	46064140	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1457G>T	18.37:g.47810142C>A	ENSP00000285106:p.Cys486Phe		46064140	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034072	0.75504	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.73363	-0.72;-0.74	4.65	4.65	0.58169	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87474	0.2416	10	0.87932	D	0	-16.0297	15.3793	0.74641	0.0:1.0:0.0:0.0	.	490;486;353	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	F	486;490	ENSP00000285106:C486F;ENSP00000390475:C490F	ENSP00000285106:C486F	C	-	2	0	CXXC1	46064140	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	7.120000	0.77153	2.290000	0.77057	0.467000	0.42956	TGT		0.567	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		A	47810142	C	A	47810142	3	1	420	1	0	0	0	0	1	0	0	0	4097	478	17	3	533	3	CXXC1	18	47810142	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	243560	47810142	30267106	96	23080											
ZNF121	7675	genome.wustl.edu	37	19	9677386	9677386	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr19:9677386C>G	ENST00000586602.1	-	6	819	c.403G>C	c.(403-405)Gtt>Ctt	p.V135L	ZNF121_ENST00000320451.6_Missense_Mutation_p.V135L			P58317	ZN121_HUMAN	zinc finger protein 121	135					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)			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TGCATTTTAACAGACACAGCA	0.378																																																0			19											84	75	78					19																	9677386		2203	4300	6503	9538386	SO:0001583	missense	7675			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"Zinc fingers, C2H2-type"	12904	protein-coding gene	gene with protein product		194628	"zinc finger protein 121 (clone ZHC32)"	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.403G>C	19.37:g.9677386C>G	ENSP00000468643:p.Val135Leu		9538386		Missense_Mutation	SNP	ENST00000586602.1	37		.	.	.	.	.	.	.	.	.	.	C	4.873	0.162286	0.09287	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.15017	2.46	1.3	-1.26	0.09376	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	N	0.16307	0.4	0.09310	N	1	B	0.18310	0.027	B	0.24006	0.05	T	0.35001	-0.9806	9	0.62326	D	0.03	.	2.5684	0.04789	0.0:0.3354:0.2706:0.394	.	135	P58317	ZN121_HUMAN	L	135	ENSP00000326967:V135L	ENSP00000326967:V135L	V	-	1	0	ZNF121	9538386	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.794000	0.04584	-0.299000	0.08909	-0.479000	0.04858	GTT		0.378	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		G	9677386	C	G	9677386	3	3	420	1	0	0	0	0	1	0	0	0	17719	478	17	3	773	3	ZNF121	19	9677386	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09		9677386	49451597	97	23081											
ELAVL3	1995	genome.wustl.edu	37	19	11569102	11569125	+	Splice_Site	DEL	CTGCCAGGGGGCAGGGATGTCCAT	CTGCCAGGGGGCAGGGATGTCCAT	-	rs370267373		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	CTGCCAGGGGGCAGGGATGTCCAT	CTGCCAGGGGGCAGGGATGTCCAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr19:11569102_11569125delCTGCCAGGGGGCAGGGATGTCCAT	ENST00000359227.3	-	5	912		c.e5-1		ELAVL3_ENST00000438662.2_Splice_Site	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3						cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGAGAGACACCTGCCAGGGGGCAGGGATGTCCATCACGACGACC	0.598																																																0			19																																								11430125	SO:0001630	splice_region_variant	1995				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.488-1ATGGACATCCCTGCCCCCTGGCAG>-	19.37:g.11569102_11569125delCTGCCAGGGGGCAGGGATGTCCAT			11430102	Q16135|Q96CL8|Q96QS9	Splice_Site	DEL	ENST00000359227.3	37	CCDS32912.1																																																																																				0.598	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420	Intron	-	11569125	CTGCCAGGGGGCAGGGATGTCCAT	-	11569102	8	5	420	1	0	1	0	1	0	0	1	0	5051	695	24	0	628	0	ELAVL3	19	11569102	Splice_Site	DEL	CTGCCAGGGGGCAGGGATGTCCAT	TCGA-61-1727-01A-01W-0639-09	1891716	11569102	47559881	98	23082											
ZNF491	126069	genome.wustl.edu	37	19	11917874	11917874	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr19:11917874C>G	ENST00000323169.5	+	3	1437	c.1106C>G	c.(1105-1107)tCc>tGc	p.S369C	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TGTGTCAGCTCCTTTCATAGA	0.393																																																0			19											56	58	57					19																	11917874		2203	4300	6503	11778874	SO:0001583	missense	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1106C>G	19.37:g.11917874C>G	ENSP00000313443:p.Ser369Cys		11778874	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	c	6.810	0.518497	0.13005	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.16597	2.33	0.981	-1.96	0.07525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12475	0.0303	L	0.49126	1.545	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.36744	-0.9735	9	0.62326	D	0.03	.	1.1661	0.01816	0.2007:0.2531:0.3786:0.1676	.	369	Q8N8L2	ZN491_HUMAN	C	369;341	ENSP00000313443:S369C	ENSP00000313443:S369C	S	+	2	0	ZNF491	11778874	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.544000	0.00436	-0.576000	0.05974	0.505000	0.49811	TCC		0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		G	11917874	C	G	11917874	3	3	420	1	0	0	0	0	1	0	0	0	17942	855	30	3	1108	3	ZNF491	19	11917874	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	348772	11917874	47211109	99	23083											
ZNF799	90576	genome.wustl.edu	37	19	12501999	12501999	+	Missense_Mutation	SNP	G	G	A	rs183068429		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr19:12501999G>A	ENST00000430385.3	-	4	1413	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	ZNF799_ENST00000419318.1_Missense_Mutation_p.P373S|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AATACACTGGGATAAACAAAG	0.418																																																0			19											143	142	142					19																	12501999		2203	4300	6503	12362999	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1213C>T	19.37:g.12501999G>A	ENSP00000411084:p.Pro405Ser		12362999		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	0.133	-1.111207	0.01813	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.06933	3.24;3.24	1.31	0.231	0.15377	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	N	0.01522	-0.82	0.09310	N	1	P	0.49358	0.923	P	0.54590	0.756	T	0.17715	-1.0360	9	0.02654	T	1	.	1.9548	0.03374	0.2185:0.0:0.4643:0.3172	.	405	Q96GE5	ZN799_HUMAN	S	373;405	ENSP00000415278:P373S;ENSP00000411084:P405S	ENSP00000415278:P373S	P	-	1	0	ZNF799	12362999	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.650000	0.05378	0.117000	0.18138	0.430000	0.28490	CCC		0.418	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		A	12501999	G	A	12501999	3	1	420	1	0	0	0	0	1	0	0	0	18166	1174	41	2	722	2	ZNF799	19	12501999	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	584125	12501999	46626984	100	23084											
ACTN4	81	genome.wustl.edu	37	19	39200930	39200930	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr19:39200930C>A	ENST00000252699.2	+	8	843	c.767C>A	c.(766-768)gCc>gAc	p.A256D	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	256	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACGAGAAGGCCATAATGACC	0.617																																					Colon(168;199 1940 10254 46213 46384)											0			19											199	174	183					19																	39200930		2203	4300	6503	43892770	SO:0001583	missense	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.767C>A	19.37:g.39200930C>A	ENSP00000252699:p.Ala256Asp		43892770	A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281768	0.95489	.	.	ENSG00000130402	ENST00000252699;ENST00000445727	D	0.95554	-3.74	5.76	5.76	0.90799	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97529	0.9191	M	0.72479	2.2	0.80722	D	1	D;B	0.59767	0.986;0.441	D;D	0.85130	0.997;0.932	D	0.97942	1.0326	10	0.87932	D	0	.	18.7502	0.91810	0.0:1.0:0.0:0.0	.	256;256	E7EV83;O43707	.;ACTN4_HUMAN	D	256	ENSP00000252699:A256D	ENSP00000252699:A256D	A	+	2	0	ACTN4	43892770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.719000	0.93026	0.555000	0.69702	GCC		0.617	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			A	39200930	C	A	39200930	3	1	420	1	0	0	0	0	1	0	0	0	207	739	26	3	797	3	ACTN4	19	39200930	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	26698931	39200930	19928053	101	23085											
PRKCG	5582	genome.wustl.edu	37	19	54407996	54407996	+	Splice_Site	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr19:54407996G>A	ENST00000263431.3	+	16	2046	c.1764G>A	c.(1762-1764)ggG>ggA	p.G588G	PRKCG_ENST00000540413.1_Splice_Site_p.G588G|PRKCG_ENST00000542049.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	588	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCTGCAAGGGGGTGAGAGCCC	0.562																																																0			19											62	49	53					19																	54407996		2203	4300	6503	59099808	SO:0001630	splice_region_variant	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1764+1G>A	19.37:g.54407996G>A			59099808	B7Z8Q0	Silent	SNP	ENST00000263431.3	37	CCDS12867.1																																																																																				0.562	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	Silent	A	54407996	G	A	54407996	5	1	420	1	0	0	0	0	0	0	1	0	12515	1246	43	2	1826	2	PRKCG	19	54407996	Splice_Site	SNP	G	TCGA-61-1727-01A-01W-0639-09	15207066	54407996	4720987	102	23086											
NLRP4	147945	genome.wustl.edu	37	19	56369922	56369922	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr19:56369922C>T	ENST00000301295.6	+	3	1585	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	NLRP4_ENST00000587891.1_Missense_Mutation_p.P313L|NLRP4_ENST00000346986.5_Missense_Mutation_p.P388L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	388	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCCGAGGGCCCGACTCCGCAA	0.562																																																0			19											59	57	57					19																	56369922		2203	4300	6503	61061734	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1163C>T	19.37:g.56369922C>T	ENSP00000301295:p.Pro388Leu		61061734	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592711	0.46214	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83755	-1.76;-1.76	4.01	1.87	0.25490	.	.	.	.	.	D	0.86451	0.5936	M	0.67397	2.05	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.95;1.0;0.999	T	0.73642	-0.3918	9	0.17832	T	0.49	.	5.778	0.18289	0.0:0.7579:0.0:0.2421	.	388;313;388	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	L	388	ENSP00000301295:P388L;ENSP00000344787:P388L	ENSP00000301295:P388L	P	+	2	0	NLRP4	61061734	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.208000	0.17415	1.026000	0.39733	0.655000	0.94253	CCG		0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56369922	C	T	56369922	3	4	420	1	0	0	0	0	1	0	0	0	10479	652	23	1	1169	1	NLRP4	19	56369922	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	1961926	56369922	2759061	103	23087											
ZSCAN5A	79149	genome.wustl.edu	37	19	56734079	56734079	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr19:56734079T>A	ENST00000587340.1	-	6	1315	c.620A>T	c.(619-621)gAc>gTc	p.D207V	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.D207V|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.D207V|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.D61V|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.D90V			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	207					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACCTGTTACGTCAATACTCTT	0.502																																																0			19											175	146	156					19																	56734079		2203	4300	6503	61425891	SO:0001583	missense	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.620A>T	19.37:g.56734079T>A	ENSP00000467631:p.Asp207Val		61425891	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.788273	0.00628	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06449	3.3;3.32	2.05	-1.67	0.08238	.	.	.	.	.	T	0.02267	0.0070	N	0.04705	-0.18	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47724	-0.9095	9	0.13470	T	0.59	.	2.2036	0.03930	0.329:0.0:0.4167:0.2543	.	90;207	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	V	207;90	ENSP00000375593:D207V;ENSP00000254165:D90V	ENSP00000254165:D90V	D	-	2	0	ZSCAN5A	61425891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.344000	0.07780	-0.301000	0.08882	-1.222000	0.01597	GAC		0.502	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		A	56734079	T	A	56734079	3	1	420	1	0	0	0	0	1	0	0	0	18238	1667	58	5	878	5	ZSCAN5A	19	56734079	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	364157	56734079	2394904	104	23088											
PLCB1	23236	genome.wustl.edu	37	20	8689385	8689385	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr20:8689385G>C	ENST00000338037.6	+	12	1263	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	PLCB1_ENST00000378637.2_Missense_Mutation_p.E412D|PLCB1_ENST00000378641.3_Missense_Mutation_p.E412D	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	412	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTCGTTTGAGAACCATGTGG	0.353																																																0			20											134	111	118					20																	8689385		2203	4300	6503	8637385	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1236G>C	20.37:g.8689385G>C	ENSP00000338185:p.Glu412Asp		8637385	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889375	0.72524	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.62788	-0.0;-0.0;-0.0	5.2	0.376	0.16193	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.099612	0.64402	D	0.000002	T	0.80874	0.4707	H	0.95611	3.695	0.46458	D	0.999057	D;P	0.69078	0.997;0.68	D;B	0.74348	0.983;0.325	T	0.79860	-0.1625	10	0.87932	D	0	.	7.4769	0.27382	0.6761:0.0:0.3239:0.0	.	412;412	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	D	412;412;412;332;332	ENSP00000367908:E412D;ENSP00000338185:E412D;ENSP00000367904:E412D	ENSP00000338185:E412D	E	+	3	2	PLCB1	8637385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.499000	0.45372	0.222000	0.20900	0.655000	0.94253	GAG		0.353	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			C	8689385	G	C	8689385	3	2	420	1	0	0	0	0	1	0	0	0	12027	933	33	3	1282	3	PLCB1	20	8689385	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09		8689385	54336135	105	23089											
MACROD2	140733	genome.wustl.edu	37	20	15948271	15948271	+	Silent	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr20:15948271C>G	ENST00000310348.4	+	13	981	c.981C>G	c.(979-981)ccC>ccG	p.P327P	MACROD2_ENST00000378058.3_Silent_p.P92P|MACROD2_ENST00000402914.1_Silent_p.P92P|MACROD2_ENST00000217246.4_Silent_p.P327P			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	327	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.P92P(1)|p.P327P(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAGATCATCCCGATGGTAGGT	0.348																																																2	Substitution - coding silent(2)	kidney(2)	20											122	123	122					20																	15948271		2203	4300	6503	15896271	SO:0001819	synonymous_variant	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.981C>G	20.37:g.15948271C>G			15896271	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	CCDS13120.2																																																																																				0.348	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		G	15948271	C	G	15948271	2	3	420	1	0	0	0	0	0	0	0	1	9146	639	23	3		3	MACROD2	20	15948271	Silent	SNP	C	TCGA-61-1727-01A-01W-0639-09	7258886	15948271	47077249	106	23090											
CTNNBL1	56259	genome.wustl.edu	37	20	36431298	36431298	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chr20:36431298T>A	ENST00000361383.6	+	11	1178	c.1061T>A	c.(1060-1062)cTg>cAg	p.L354Q	CTNNBL1_ENST00000373473.1_Missense_Mutation_p.L167Q|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.L102Q|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.L327Q|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	354					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGCAGTGCCCTGAAAGTGCTG	0.433																																					Ovarian(184;582 2038 3273 4106 42608)											0			20											125	119	121					20																	36431298		2203	4300	6503	35864712	SO:0001583	missense	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1061T>A	20.37:g.36431298T>A	ENSP00000355050:p.Leu354Gln		35864712	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486333	0.84854	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.59224	0.28;0.28;0.43;0.43	5.52	5.52	0.82312	Armadillo-type fold (1);	0.151946	0.46442	D	0.000286	T	0.78972	0.4368	M	0.89163	3.01	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68765	0.954;0.96	D	0.83552	0.0102	10	0.87932	D	0	-15.0604	14.8219	0.70080	0.0:0.0:0.0:1.0	.	354;167	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	Q	354;327;167;102	ENSP00000355050:L354Q;ENSP00000384355:L327Q;ENSP00000362572:L167Q;ENSP00000362568:L102Q	ENSP00000355050:L354Q	L	+	2	0	CTNNBL1	35864712	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.948000	0.87774	2.096000	0.63516	0.379000	0.24179	CTG		0.433	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		A	36431298	T	A	36431298	3	1	420	1	0	0	0	0	1	0	0	0	4018	1580	55	5	1103	5	CTNNBL1	20	36431298	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	20483027	36431298	26594222	107	23091											
EGFL6	25975	genome.wustl.edu	37	X	13635855	13635855	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:13635855C>G	ENST00000361306.1	+	8	1042	c.785C>G	c.(784-786)cCt>cGt	p.P262R	EGFL6_ENST00000380602.3_Missense_Mutation_p.P262R	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	262					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TTAGCTATCCCTGAAAATTCT	0.348																																																0			X											108	112	110					X																	13635855		2203	4300	6503	13545776	SO:0001583	missense	25975			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.785C>G	X.37:g.13635855C>G	ENSP00000355126:p.Pro262Arg		13545776	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060897	0.36373	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.87966	-2.32;-2.32	5.74	5.74	0.90152	.	0.369038	0.30185	N	0.010216	D	0.84224	0.5425	N	0.08118	0	0.45194	D	0.998208	D;D	0.76494	0.999;0.995	D;P	0.70016	0.967;0.854	D	0.84838	0.0806	10	0.52906	T	0.07	.	8.2199	0.31534	0.1573:0.7635:0.0:0.0792	.	262;262	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	R	262	ENSP00000355126:P262R;ENSP00000369976:P262R	ENSP00000355126:P262R	P	+	2	0	EGFL6	13545776	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	2.887000	0.48586	2.433000	0.82419	0.589000	0.80489	CCT		0.348	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		G	13635855	C	G	13635855	3	3	420	1	0	0	0	0	1	0	0	0	4963	681	24	3	815	3	EGFL6	23	13635855	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09		13635855	141634705	108	23092											
CTPS2	56474	genome.wustl.edu	37	X	16716458	16716482	+	Splice_Site	DEL	AACTGTAGAAAGAAGTATTAATACA	AACTGTAGAAAGAAGTATTAATACA	-	rs367875778|rs191710086		TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	AACTGTAGAAAGAAGTATTAATACA	AACTGTAGAAAGAAGTATTAATACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:16716458_16716482delAACTGTAGAAAGAAGTATTAATACA	ENST00000443824.1	-	4	1081_1082	c.338_339delTGTATTAATACTTCTTTCTACAGTT	c.(337-339)gtg>g	p.V114fs	CTPS2_ENST00000380241.3_Splice_Site_p.V114fs|CTPS2_ENST00000359276.4_Splice_Site_p.V114fs	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	114					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TGTGAGGGACAACTGTAGAAAGAAGTATTAATACAAAAGTTTATT	0.422																																																0			X																																								16626403	SO:0001630	splice_region_variant	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.338-1TGTATTAATACTTCTTTCTACAGTT>-	X.37:g.16716458_16716482delAACTGTAGAAAGAAGTATTAATACA			16626379	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Frame_Shift_Del	DEL	ENST00000443824.1	37	CCDS14175.1																																																																																				0.422	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857	Frame_Shift_Del	-	16716482	AACTGTAGAAAGAAGTATTAATACA	-	16716458	8	5	420	1	0	1	0	1	0	0	1	0	4023	144	5	0	1481	0	CTPS2	23	16716458	Splice_Site	DEL	AACTGTAGAAAGAAGTATTAATACA	TCGA-61-1727-01A-01W-0639-09	3080603	16716458	138554102	109	23093											
MAP3K15	389840	genome.wustl.edu	37	X	19410174	19410174	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:19410174A>T	ENST00000338883.4	-	18	2376	c.2377T>A	c.(2377-2379)Ttt>Att	p.F793I	MAP3K15_ENST00000359173.3_Missense_Mutation_p.F228I|MAP3K15_ENST00000469203.2_Missense_Mutation_p.F625I|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	793	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			F -> L (in Ref. 1; BAD18622). {ECO:0000305}.			ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GAGGTTCCAAAATCGGAGATT	0.488																																																0			X											79	75	77					X																	19410174		2203	4300	6503	19320095	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2377T>A	X.37:g.19410174A>T	ENSP00000345629:p.Phe793Ile		19320095	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	A	20.6	4.013712	0.75161	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.63580	-0.05;-0.05;-0.05	5.09	5.09	0.68999	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	D	0.88797	0.6534	H	0.99789	4.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.984;0.999	D	0.93567	0.6900	10	0.87932	D	0	.	14.176	0.65542	1.0:0.0:0.0:0.0	.	268;793	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	I	793;228;625	ENSP00000345629:F793I;ENSP00000352093:F228I;ENSP00000428356:F625I	ENSP00000345629:F793I	F	-	1	0	MAP3K15	19320095	1.000000	0.71417	0.997000	0.53966	0.356000	0.29392	8.910000	0.92685	1.794000	0.52575	0.417000	0.27973	TTT		0.488	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		T	19410174	A	T	19410174	3	4	420	1	0	0	0	0	1	0	0	0	9249	14	1	5	1612	5	MAP3K15	23	19410174	Missense_Mutation	SNP	A	TCGA-61-1727-01A-01W-0639-09	2693716	19410174	135860386	110	23094											
FAM47C	442444	genome.wustl.edu	37	X	37027236	37027236	+	Silent	SNP	C	C	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:37027236C>A	ENST00000358047.3	+	1	805	c.753C>A	c.(751-753)ccC>ccA	p.P251P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	251										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAGAGCCTCCCAAGACTCAGG	0.622																																																0			X											55	52	53					X																	37027236		2202	4300	6502	36937157	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.753C>A	X.37:g.37027236C>A			36937157	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37027236	C	A	37027236	2	1	420	1	0	0	0	0	0	0	0	1	5571	581	21	3		3	FAM47C	23	37027236	Silent	SNP	C	TCGA-61-1727-01A-01W-0639-09	17617062	37027236	118243324	111	23095											
USP9X	8239	genome.wustl.edu	37	X	40990733	40990733	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:40990733T>G	ENST00000324545.8	+	4	899	c.266T>G	c.(265-267)tTg>tGg	p.L89W	USP9X_ENST00000378308.2_Missense_Mutation_p.L89W	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	89					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTTCCAGTTTTGCCGAAAGGG	0.348																																					Ovarian(172;1807 2695 35459 49286)											0			X											149	140	143					X																	40990733		2203	4300	6503	40875677	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.266T>G	X.37:g.40990733T>G	ENSP00000316357:p.Leu89Trp		40875677	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482363	0.84747	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03663	3.86;3.85	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.17195	0.0413	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.68039	0.955;0.904	T	0.00326	-1.1815	10	0.66056	D	0.02	.	14.1419	0.65325	0.0:0.0:0.0:1.0	.	89;89	Q93008-1;Q93008	.;USP9X_HUMAN	W	89	ENSP00000367558:L89W;ENSP00000316357:L89W	ENSP00000316357:L89W	L	+	2	0	USP9X	40875677	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.669000	0.83911	1.786000	0.52430	0.486000	0.48141	TTG		0.348	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	40990733	T	G	40990733	3	3	420	1	0	0	0	0	1	0	0	0	17090	1821	63	5	276	5	USP9X	23	40990733	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	3963497	40990733	114279827	112	23096											
DGKK	139189	genome.wustl.edu	37	X	50144109	50144109	+	RNA	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:50144109G>C	ENST00000376025.2	-	0	1396							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACATTCCTTGGAAAACCGTCT	0.458																																																0			X											73	61	65					X																	50144109		1932	4132	6064	50160849			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50144109G>C			50160849	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.458	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		C	50144109	G	C	50144109	1	2	420	0	1	0	0	0	0	0	0	0	4472	1174	41	3		3	DGKK	23	50144109	RNA	SNP	G	TCGA-61-1727-01A-01W-0639-09	9153376	50144109	105126451	113	23097											
ACRC	93953	genome.wustl.edu	37	X	70823985	70823985	+	Silent	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:70823985C>T	ENST00000373695.1	+	7	1395	c.858C>T	c.(856-858)gaC>gaT	p.D286D	ACRC_ENST00000373696.3_Silent_p.D286D			Q96QF7	ACRC_HUMAN	acidic repeat containing	286	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAGCTTCCGACGACAGCAGTG	0.542																																																0			X											110	107	108					X																	70823985		2203	4300	6503	70740710	SO:0001819	synonymous_variant	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.858C>T	X.37:g.70823985C>T			70740710	B9EG62	Silent	SNP	ENST00000373695.1	37	CCDS35326.1																																																																																				0.542	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			T	70823985	C	T	70823985	2	4	420	1	0	0	0	0	0	0	0	1	171	535	19	1		1	ACRC	23	70823985	Silent	SNP	C	TCGA-61-1727-01A-01W-0639-09	20679876	70823985	84446575	114	23098											
KIAA2022	340533	genome.wustl.edu	37	X	73960161	73960161	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:73960161C>G	ENST00000055682.6	-	3	4842	c.4231G>C	c.(4231-4233)Ggt>Cgt	p.G1411R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1411					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGCACGACCAGGATCACCT	0.438																																																0			X											215	173	187					X																	73960161		2203	4300	6503	73876886	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4231G>C	X.37:g.73960161C>G	ENSP00000055682:p.Gly1411Arg		73876886	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.42|13.42	2.232069|2.232069	0.39399|0.39399	.|.	.|.	ENSG00000050030|ENSG00000050030	ENST00000373468;ENST00000055682|ENST00000424929	T;T|.	0.31510|.	1.49;1.49|.	5.36|5.36	3.59|3.59	0.41128|0.41128	.|.	0.274686|.	0.34676|.	N|.	0.003763|.	T|T	0.38506|0.38506	0.1043|0.1043	L|L	0.29908|0.29908	0.895|0.895	0.33596|0.33596	D|D	0.601737|0.601737	P|.	0.49783|.	0.928|.	P|.	0.51385|.	0.668|.	T|T	0.46652|0.46652	-0.9176|-0.9176	10|5	0.87932|.	D|.	0|.	-4.2263|-4.2263	8.5644|8.5644	0.33531|0.33531	0.0:0.7575:0.0:0.2425|0.0:0.7575:0.0:0.2425	.|.	1411|.	Q5QGS0|.	K2022_HUMAN|.	R|S	1411|12	ENSP00000362567:G1411R;ENSP00000055682:G1411R|.	ENSP00000055682:G1411R|.	G|W	-|-	1|2	0|0	KIAA2022|KIAA2022	73876886|73876886	0.306000|0.306000	0.24490|0.24490	0.747000|0.747000	0.31113|0.31113	0.889000|0.889000	0.51656|0.51656	0.078000|0.078000	0.14761|0.14761	0.462000|0.462000	0.27095|0.27095	0.544000|0.544000	0.68410|0.68410	GGT|TGG		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		G	73960161	C	G	73960161	3	3	420	1	0	0	0	0	1	0	0	0	8269	594	21	3	327	3	KIAA2022	23	73960161	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	3136176	73960161	81310399	115	23099											
RPA4	29935	genome.wustl.edu	37	X	96139557	96139557	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:96139557C>T	ENST00000373040.3	+	1	651	c.248C>T	c.(247-249)gCa>gTa	p.A83V	DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	83					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						ATCAGAGGGGCAGAGAAGGCT	0.468								Other identified genes with known or suspected DNA repair function																																								0			X											97	85	89					X																	96139557		2203	4300	6503	96026213	SO:0001583	missense	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.248C>T	X.37:g.96139557C>T	ENSP00000362131:p.Ala83Val		96026213	Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165379	0.38217	.	.	ENSG00000204086	ENST00000373040	T	0.19250	2.16	3.66	-2.48	0.06423	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	.	.	.	.	T	0.07143	0.0181	N	0.11313	0.125	0.09310	N	1	B	0.34313	0.448	B	0.23716	0.048	T	0.25398	-1.0133	9	0.30854	T	0.27	-13.0981	3.1746	0.06564	0.3193:0.2552:0.0:0.4256	.	83	Q13156	RFA4_HUMAN	V	83	ENSP00000362131:A83V	ENSP00000362131:A83V	A	+	2	0	RPA4	96026213	0.493000	0.26035	0.000000	0.03702	0.112000	0.19704	-0.012000	0.12699	-0.873000	0.04032	0.600000	0.82982	GCA		0.468	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		T	96139557	C	T	96139557	3	4	420	1	0	0	0	0	1	0	0	0	13542	710	25	2	250	2	RPA4	23	96139557	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	22179396	96139557	59131003	116	23100											
TEX13A	56157	genome.wustl.edu	37	X	104464723	104464723	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:104464723G>A	ENST00000413579.1	-	2	470	c.359C>T	c.(358-360)aCg>aTg	p.T120M	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.T120M|TEX13A_ENST00000372575.1_Missense_Mutation_p.T120M|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	120							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CTTGCGTTCCGTCTCCTGCTG	0.612																																																0			X											36	36	36					X																	104464723		2157	4235	6392	104351379	SO:0001583	missense	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.359C>T	X.37:g.104464723G>A	ENSP00000399753:p.Thr120Met		104351379	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	G	0.004	-2.272780	0.00257	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.84	0.362	0.16113	.	1.169440	0.06546	N	0.744169	T	0.18593	0.0446	.	.	.	0.09310	N	1	B;B	0.19935	0.04;0.04	B;B	0.06405	0.002;0.002	T	0.22452	-1.0216	8	0.22706	T	0.39	.	1.9493	0.03363	0.5682:0.0:0.1623:0.2695	.	120;120	C9JWK0;Q9BXU3	.;TX13A_HUMAN	M	120	.	ENSP00000361656:T120M	T	-	2	0	TEX13A	104351379	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.350000	0.20079	-0.007000	0.14345	-1.492000	0.00969	ACG		0.612	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		A	104464723	G	A	104464723	3	1	420	1	0	0	0	0	1	0	0	0	15776	1145	40	1	880	1	TEX13A	23	104464723	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	8325166	104464723	50805837	117	23101											
TEX13A	56157	genome.wustl.edu	37	X	104464793	104464793	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:104464793C>T	ENST00000413579.1	-	2	400	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.A97T|TEX13A_ENST00000372575.1_Missense_Mutation_p.A97T|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	97							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCAGTTTGGCGAAGCCGTGC	0.637																																																0			X											31	31	31					X																	104464793		2198	4278	6476	104351449	SO:0001583	missense	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.289G>A	X.37:g.104464793C>T	ENSP00000399753:p.Ala97Thr		104351449	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	10.23	1.292517	0.23564	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.84	-2.05	0.07321	.	0.501798	0.14964	N	0.288195	T	0.15305	0.0369	.	.	.	0.09310	N	1	P;P	0.41008	0.735;0.735	B;B	0.35240	0.198;0.198	T	0.10567	-1.0624	8	0.44086	T	0.13	.	2.8076	0.05432	0.4596:0.2651:0.0:0.2754	.	97;97	C9JWK0;Q9BXU3	.;TX13A_HUMAN	T	97	.	ENSP00000361656:A97T	A	-	1	0	TEX13A	104351449	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.445000	0.02401	-0.642000	0.05480	0.506000	0.49869	GCC		0.637	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		T	104464793	C	T	104464793	3	4	420	1	0	0	0	0	1	0	0	0	15776	768	27	1	950	1	TEX13A	23	104464793	Missense_Mutation	SNP	C	TCGA-61-1727-01A-01W-0639-09	70	104464793	50805767	118	23102											
COL4A5	1287	genome.wustl.edu	37	X	107924178	107924178	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:107924178G>C	ENST00000361603.2	+	44	4305	c.4061G>C	c.(4060-4062)gGt>gCt	p.G1354A	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1360A	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1354	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACTTATTGGTCCTCCAGGT	0.448									Alport syndrome with Diffuse Leiomyomatosis																																							0			X											108	101	104					X																	107924178		2203	4300	6503	107810834	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4061G>C	X.37:g.107924178G>C	ENSP00000354505:p.Gly1354Ala		107810834	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354062	0.61293	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99329	-5.75;-4.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.95884	3.735	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.996	D	0.97603	1.0124	10	0.72032	D	0.01	.	18.2781	0.90089	0.0:0.0:1.0:0.0	.	1357;1354	E7EVY4;P29400	.;CO4A5_HUMAN	A	1360;1354;1360	ENSP00000331902:G1360A;ENSP00000354505:G1354A	ENSP00000331902:G1360A	G	+	2	0	COL4A5	107810834	1.000000	0.71417	0.132000	0.22025	0.367000	0.29736	9.076000	0.94009	2.255000	0.74692	0.506000	0.49869	GGT		0.448	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			C	107924178	G	C	107924178	3	2	420	1	0	0	0	0	1	0	0	0	3694	1261	44	3	4246	3	COL4A5	23	107924178	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	3459385	107924178	47346382	119	23103											
MBNL3	55796	genome.wustl.edu	37	X	131525093	131525093	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:131525093G>A	ENST00000370853.3	-	4	631	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370849.3_Missense_Mutation_p.R135C|MBNL3_ENST00000394311.2_Missense_Mutation_p.R89C|MBNL3_ENST00000370857.3_Missense_Mutation_p.R185C|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.R89C|MBNL3_ENST00000538204.1_Missense_Mutation_p.R135C|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.R185C	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	185					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R185C(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					CAATTTCCACGCTGAAATTCT	0.443																																																2	Substitution - Missense(2)	endometrium(2)	X											93	80	85					X																	131525093		2203	4300	6503	131352774	SO:0001583	missense	55796			AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"Zinc fingers, CCCH-type domain containing"	20564	protein-coding gene	gene with protein product		300413	"muscleblind-like 3 (Drosophila)"			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.553C>T	X.37:g.131525093G>A	ENSP00000359890:p.Arg185Cys		131352774	Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469010	0.84533	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.85	5.85	0.93711	Zinc finger, CCCH-type (2);	0.000000	0.64402	D	0.000001	T	0.67998	0.2953	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.999;0.999;0.999;0.997	T	0.73260	-0.4039	10	0.87932	D	0	-13.8141	13.9389	0.64043	0.0:0.0:0.8483:0.1516	.	135;185;185;135;89	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	C	89;135;185;185;135;185;89;89;89	ENSP00000377848:R89C;ENSP00000439618:R135C;ENSP00000359894:R185C;ENSP00000359890:R185C;ENSP00000359886:R135C;ENSP00000359876:R185C;ENSP00000359881:R89C;ENSP00000406014:R89C;ENSP00000402128:R89C	ENSP00000359876:R185C	R	-	1	0	MBNL3	131352774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.444000	0.82710	0.513000	0.50165	CGT		0.443	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		A	131525093	G	A	131525093	3	1	420	1	0	0	0	0	1	0	0	0	9355	1087	38	1	592	1	MBNL3	23	131525093	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	23600915	131525093	23745467	120	23104											
GPR112	139378	genome.wustl.edu	37	X	135482201	135482201	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:135482201T>G	ENST00000394143.1	+	21	8792	c.8501T>G	c.(8500-8502)aTg>aGg	p.M2834R	GPR112_ENST00000394141.1_Missense_Mutation_p.M2629R|GPR112_ENST00000412101.1_Missense_Mutation_p.M2629R|GPR112_ENST00000370652.1_Missense_Mutation_p.M2834R|GPR112_ENST00000287534.4_Missense_Mutation_p.M2587R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2834					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCAGTCCACATGTATTTGGCT	0.388																																																0			X											225	181	196					X																	135482201		2203	4300	6503	135309867	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8501T>G	X.37:g.135482201T>G	ENSP00000377699:p.Met2834Arg		135309867	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731841	0.69189	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.1	5.1	0.69264	GPCR, family 2-like (1);	.	.	.	.	T	0.28067	0.0692	M	0.91406	3.205	0.40992	D	0.984869	D;D	0.76494	0.998;0.999	D;D	0.87578	0.988;0.998	T	0.27157	-1.0082	9	0.87932	D	0	.	13.8948	0.63764	0.0:0.0:0.0:1.0	.	2629;2834	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	R	2834;2834;2629;2587;2629	ENSP00000377699:M2834R;ENSP00000359686:M2834R;ENSP00000416526:M2629R;ENSP00000287534:M2587R;ENSP00000377697:M2629R	ENSP00000287534:M2587R	M	+	2	0	GPR112	135309867	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.606000	0.82863	1.805000	0.52779	0.441000	0.28932	ATG		0.388	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			G	135482201	T	G	135482201	3	3	420	1	0	0	0	0	1	0	0	0	6629	1464	51	5	8571	5	GPR112	23	135482201	Missense_Mutation	SNP	T	TCGA-61-1727-01A-01W-0639-09	3957108	135482201	19788359	121	23105											
VMA21	203547	genome.wustl.edu	37	X	150572160	150572160	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1727-01A-01W-0639-09	TCGA-61-1727-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a937f182-b6f2-4c03-acec-95f76d7bf20c	98704722-7d91-4cee-a64f-cdf4de6c0658	g.chrX:150572160G>A	ENST00000330374.6	+	2	216	c.111G>A	c.(109-111)atG>atA	p.M37I	VMA21_ENST00000370361.1_Missense_Mutation_p.M92I|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						CAGCTTTAATGATCACTGTTC	0.343																																																0			X											191	180	183					X																	150572160		2203	4300	6503	150322818	SO:0001583	missense	203547			AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"myopathy with excessive autophagy"	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.111G>A	X.37:g.150572160G>A	ENSP00000333255:p.Met37Ile		150322818		Missense_Mutation	SNP	ENST00000330374.6	37	CCDS35430.1	.	.	.	.	.	.	.	.	.	.	.	16.15	3.040499	0.55003	.	.	ENSG00000160131	ENST00000370361;ENST00000330374	.	.	.	5.88	5.88	0.94601	Vacuolar ATPase assembly integral membrane protein VMA21-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	L	0.48642	1.525	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	T	0.66630	-0.5875	9	0.24483	T	0.36	-6.0648	16.3955	0.83604	0.0:0.0:1.0:0.0	.	37	Q3ZAQ7	VMA21_HUMAN	I	92;37	.	ENSP00000333255:M37I	M	+	3	0	VMA21	150322818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.478000	0.83669	0.594000	0.82650	ATG		0.343	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060876.1	NM_001017980		A	150572160	G	A	150572160	3	1	420	1	0	0	0	0	1	0	0	0	17175	1290	45	2	117	2	VMA21	23	150572160	Missense_Mutation	SNP	G	TCGA-61-1727-01A-01W-0639-09	15089959	150572160	4698400	122	23106											
ATP1A4	480	broad.mit.edu	37	1	160144384	160144384	+	Missense_Mutation	SNP	G	G	A	rs150078418		TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr1:160144384G>A	ENST00000368081.4	+	15	2629	c.2158G>A	c.(2158-2160)Gtg>Atg	p.V720M	ATP1A4_ENST00000470705.1_5'Flank|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	720					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.V720L(1)|p.V720M(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTTGTGGCCGTGACAGGTGA	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		20959	0		0	False		,,,				2504	0															2	Substitution - Missense(2)	ovary(1)|lung(1)	1						G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	102	81	88		2158	4.2	0.9	1	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ATP1A4	NM_144699.3	21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	720/1030	160144384	2,13004	2203	4300	6503	158411008	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2158G>A	1.37:g.160144384G>A	ENSP00000357060:p.Val720Met		158411008	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159371	0.78226	2.27E-4	1.16E-4	ENSG00000132681	ENST00000368081	D	0.93488	-3.23	4.2	4.2	0.49525	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.061993	0.64402	D	0.000006	D	0.92681	0.7674	L	0.28274	0.84	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94100	0.7361	10	0.87932	D	0	.	14.4423	0.67325	0.0:0.0:1.0:0.0	.	720	Q13733	AT1A4_HUMAN	M	720	ENSP00000357060:V720M	ENSP00000357060:V720M	V	+	1	0	ATP1A4	158411008	1.000000	0.71417	0.929000	0.37066	0.791000	0.44710	9.619000	0.98369	2.336000	0.79503	0.609000	0.83330	GTG		0.542	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		A	160144384	G	A	160144384	3	1	421	1	0	0	0	0	1	0	0	0	1131	1145	40	1	2216	1	ATP1A4	1	160144384	Missense_Mutation	SNP	G	TCGA-61-1728-01A-01W-0699-08		160144384	89106237	1	23107											
C1orf111	284680	broad.mit.edu	37	1	162344302	162344302	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr1:162344302C>T	ENST00000367935.5	-	3	401	c.322G>A	c.(322-324)Gag>Aag	p.E108K	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	108								p.E108K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			AGCTGGCTCTCTTTGTCTGCA	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											127	125	125					1																	162344302		2203	4300	6503	160610926	SO:0001583	missense	284680			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.322G>A	1.37:g.162344302C>T	ENSP00000356912:p.Glu108Lys		160610926	Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	37	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169943	0.21621	.	.	ENSG00000171722	ENST00000367935	T	0.35048	1.33	4.83	2.83	0.33086	.	0.368235	0.22278	N	0.062174	T	0.15912	0.0383	M	0.65975	2.015	0.27888	N	0.939445	B	0.16802	0.019	B	0.20767	0.031	T	0.05971	-1.0853	9	0.48119	T	0.1	-10.1859	3.8509	0.08954	0.1917:0.6104:0.0:0.1978	.	108	Q5T0L3	CA111_HUMAN	K	108	ENSP00000356912:E108K	ENSP00000356912:E108K	E	-	1	0	C1orf111	160610926	0.013000	0.17824	0.796000	0.32109	0.013000	0.08279	1.349000	0.33998	1.030000	0.39839	0.655000	0.94253	GAG		0.572	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		T	162344302	C	T	162344302	3	4	421	1	0	0	0	0	1	0	0	0	1984	922	32	2	467	2	C1orf111	1	162344302	Missense_Mutation	SNP	C	TCGA-61-1728-01A-01W-0699-08	2199918	162344302	86906319	2	23108											
SP3	6670	broad.mit.edu	37	2	174820592	174820592	+	Silent	SNP	G	G	A			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr2:174820592G>A	ENST00000310015.6	-	4	1178	c.648C>T	c.(646-648)gcC>gcT	p.A216A	SP3_ENST00000418194.2_Silent_p.A148A|SP3_ENST00000455789.2_Silent_p.A163A|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	216	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.A216A(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGTTCCAGAGGCAAGTAAGG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	2											172	178	176					2																	174820592		2203	4300	6503	174528838	SO:0001819	synonymous_variant	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.648C>T	2.37:g.174820592G>A			174528838	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	G	4.393	0.072594	0.08436	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.95	3.54	0.40534	.	.	.	.	.	T	0.62829	0.2460	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61332	-0.7084	4	.	.	.	.	12.1029	0.53794	0.1872:0.0:0.8128:0.0	.	.	.	.	L	173	.	.	P	-	2	0	SP3	174528838	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.243000	0.18106	1.263000	0.44181	0.563000	0.77884	CCT		0.428	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		A	174820592	G	A	174820592	2	1	421	1	0	0	0	0	0	0	0	1	14968	987	35	2		2	SP3	2	174820592	Silent	SNP	G	TCGA-61-1728-01A-01W-0699-08		174820592	68378781	3	23109											
COL25A1	84570	broad.mit.edu	37	4	109780842	109780842	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr4:109780842G>C	ENST00000399132.1	-	24	1820	c.1290C>G	c.(1288-1290)gaC>gaG	p.D430E	COL25A1_ENST00000399127.1_Missense_Mutation_p.D411E|COL25A1_ENST00000399126.1_Missense_Mutation_p.D430E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.D430E(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGCCGTTGTAGTCTATGATCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	4											194	193	193					4																	109780842		1999	4161	6160	110000291	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1290C>G	4.37:g.109780842G>C	ENSP00000382083:p.Asp430Glu		110000291		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851661	0.51270	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.94138	-3.36;-2.66;-3.36	5.82	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.93572	0.7948	L	0.37697	1.125	0.29781	N	0.834	D;D	0.67145	0.996;0.984	D;D	0.77557	0.99;0.967	D	0.89445	0.3726	9	.	.	.	-11.6297	9.053	0.36387	0.2326:0.0:0.7674:0.0	.	430;430	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	430;432;411;411;430;360	ENSP00000382083:D430E;ENSP00000382078:D411E;ENSP00000382077:D430E	.	D	-	3	2	COL25A1	110000291	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.697000	0.47060	1.455000	0.47813	0.650000	0.86243	GAC		0.498	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		C	109780842	G	C	109780842	3	2	421	1	0	0	0	0	1	0	0	0	3684	1020	36	3	818	3	COL25A1	4	109780842	Missense_Mutation	SNP	G	TCGA-61-1728-01A-01W-0699-08		109780842	81373434	4	23110											
PRSS16	10279	broad.mit.edu	37	6	27222621	27222621	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr6:27222621C>G	ENST00000230582.3	+	10	1315	c.1300C>G	c.(1300-1302)Cct>Gct	p.P434A	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.P177A	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	434					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.P434A(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGCCAGACCCCTGGGGCTAA	0.557																																					NSCLC(178;1118 2105 17078 23587 44429)											1	Substitution - Missense(1)	ovary(1)	6											95	90	92					6																	27222621		2203	4300	6503	27330600	SO:0001583	missense	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1300C>G	6.37:g.27222621C>G	ENSP00000230582:p.Pro434Ala		27330600	O75416	Missense_Mutation	SNP	ENST00000230582.3	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905671	0.33628	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.15017	2.46;2.46	4.5	4.5	0.54988	.	0.370207	0.29321	N	0.012485	T	0.27798	0.0684	M	0.84683	2.71	0.09310	N	0.999991	D;D	0.71674	0.998;0.996	D;D	0.70016	0.967;0.91	T	0.21655	-1.0239	10	0.16896	T	0.51	-18.6148	12.9053	0.58149	0.0:1.0:0.0:0.0	.	177;434	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	A	177;434	ENSP00000404349:P177A;ENSP00000230582:P434A	ENSP00000230582:P434A	P	+	1	0	PRSS16	27330600	0.972000	0.33761	0.047000	0.18901	0.128000	0.20619	2.141000	0.42168	2.505000	0.84491	0.557000	0.71058	CCT		0.557	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			G	27222621	C	G	27222621	3	3	421	1	0	0	0	0	1	0	0	0	12619	623	22	3	1338	3	PRSS16	6	27222621	Missense_Mutation	SNP	C	TCGA-61-1728-01A-01W-0699-08		27222621	143892446	5	23111											
FUT9	10690	broad.mit.edu	37	6	96651664	96651664	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr6:96651664A>C	ENST00000302103.5	+	3	959	c.633A>C	c.(631-633)aaA>aaC	p.K211N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	211					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.K211N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AGCTAAGCAAAAGCATTGAAA	0.383																																					Melanoma(98;1369 1476 6592 22940 26587)											1	Substitution - Missense(1)	ovary(1)	6											64	61	62					6																	96651664		2203	4300	6503	96758385	SO:0001583	missense	10690			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.633A>C	6.37:g.96651664A>C	ENSP00000302599:p.Lys211Asn		96758385	Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562600	0.45694	.	.	ENSG00000172461	ENST00000302103	T	0.32023	1.47	5.75	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.76727	2.345	0.54753	D	0.999985	P	0.50617	0.937	D	0.63877	0.919	T	0.34551	-0.9824	10	0.62326	D	0.03	-15.6356	7.6997	0.28615	0.7854:0.0:0.2146:0.0	.	211	Q9Y231	FUT9_HUMAN	N	211	ENSP00000302599:K211N	ENSP00000302599:K211N	K	+	3	2	FUT9	96758385	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.160000	0.42348	0.806000	0.34183	0.533000	0.62120	AAA		0.383	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		C	96651664	A	C	96651664	3	2	421	1	0	0	0	0	1	0	0	0	6111	11	1	5	635	5	FUT9	6	96651664	Missense_Mutation	SNP	A	TCGA-61-1728-01A-01W-0699-08	69429043	96651664	74463403	6	23112											
CCDC132	55610	broad.mit.edu	37	7	92970856	92970856	+	Silent	SNP	T	T	C			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr7:92970856T>C	ENST00000305866.5	+	23	2304	c.2176T>C	c.(2176-2178)Ttg>Ctg	p.L726L	CCDC132_ENST00000544910.1_Silent_p.L696L|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Silent_p.L537L|CCDC132_ENST00000535481.1_Silent_p.L446L	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	726						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L726L(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GCTGTATGGGTTGGCAGAAAG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	7											130	137	135					7																	92970856		1948	4153	6101	92808792	SO:0001819	synonymous_variant	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2176T>C	7.37:g.92970856T>C			92808792	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	CCDS43617.1																																																																																				0.423	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		C	92970856	T	C	92970856	2	2	421	1	0	0	0	0	0	0	0	1	2767	1722	60	4		4	CCDC132	7	92970856	Silent	SNP	T	TCGA-61-1728-01A-01W-0699-08		92970856	66167807	7	23113											
UBE2L6	9246	broad.mit.edu	37	11	57327836	57327836	+	Silent	SNP	G	G	A			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr11:57327836G>A	ENST00000287156.4	-	2	292	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	33					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.L33L(1)		large_intestine(1)|lung(3)|ovary(1)	5						TGCCACACCAGGACATTGGCA	0.587																																																1	Substitution - coding silent(1)	ovary(1)	11											223	182	196					11																	57327836		2201	4296	6497	57084412	SO:0001819	synonymous_variant	9246			AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"Ubiquitin-conjugating enzymes E2"	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.97C>T	11.37:g.57327836G>A			57084412	A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	ENST00000287156.4	37	CCDS7960.1																																																																																				0.587	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		A	57327836	G	A	57327836	2	1	421	1	0	0	0	0	0	0	0	1	16864	991	35	2		2	UBE2L6	11	57327836	Silent	SNP	G	TCGA-61-1728-01A-01W-0699-08		57327836	77678680	8	23114											
PPFIA2	8499	broad.mit.edu	37	12	81671100	81671100	+	Silent	SNP	T	T	A			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr12:81671100T>A	ENST00000549396.1	-	28	3466	c.3306A>T	c.(3304-3306)atA>atT	p.I1102I	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000333447.7_Silent_p.I1090I|PPFIA2_ENST00000443686.3_Silent_p.I997I|PPFIA2_ENST00000549325.1_Silent_p.I1087I|PPFIA2_ENST00000550584.2_Silent_p.I1102I|PPFIA2_ENST00000541017.1_Silent_p.I288I|PPFIA2_ENST00000552948.1_Silent_p.I1081I|PPFIA2_ENST00000407050.4_Silent_p.I1001I|PPFIA2_ENST00000548586.1_Silent_p.I1096I|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Silent_p.I638I|PPFIA2_ENST00000550359.2_Silent_p.I949I	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1102					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.I1102I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TATTACCTTTTATTTCATGTT	0.303																																																1	Substitution - coding silent(1)	ovary(1)	12											119	110	113					12																	81671100		1804	4051	5855	80195231	SO:0001819	synonymous_variant	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3306A>T	12.37:g.81671100T>A			80195231	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	CCDS55857.1																																																																																				0.303	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			A	81671100	T	A	81671100	2	1	421	1	0	0	0	0	0	0	0	1	12310	1744	61	5		5	PPFIA2	12	81671100	Silent	SNP	T	TCGA-61-1728-01A-01W-0699-08		81671100	52180795	9	23115											
RPGRIP1	57096	broad.mit.edu	37	14	21811363	21811363	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr14:21811363G>A	ENST00000400017.2	+	21	3508	c.3508G>A	c.(3508-3510)Gaa>Aaa	p.E1170K	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E1170K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E827K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E1132K|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E529K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E496K	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1170	Interaction with RPGR. {ECO:0000269|PubMed:24981858}.				eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.E786K(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCAGGAGAAGAAATCCACTT	0.473																																																1	Substitution - Missense(1)	ovary(1)	14											100	99	100					14																	21811363		1937	4154	6091	20881203	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3508G>A	14.37:g.21811363G>A	ENSP00000382895:p.Glu1170Lys		20881203	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225673	0.79576	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.06	5.06	0.68205	.	0.113446	0.64402	D	0.000018	D	0.85792	0.5779	M	0.77103	2.36	0.40135	D	0.976768	D;D;D;D;D;P	0.76494	0.998;0.999;0.998;0.998;0.998;0.892	D;D;D;D;D;P	0.73380	0.928;0.948;0.928;0.98;0.928;0.565	T	0.82458	-0.0447	10	0.09843	T	0.71	-11.8217	15.4369	0.75155	0.0:0.0:1.0:0.0	.	553;529;645;496;786;1170	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	K	827;1132;1170;1170;496;645;529	ENSP00000450445:E827K;ENSP00000451219:E1132K;ENSP00000382895:E1170K;ENSP00000206660:E1170K;ENSP00000372391:E496K;ENSP00000451262:E645K;ENSP00000309721:E529K	ENSP00000206660:E1170K	E	+	1	0	RPGRIP1	20881203	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.697000	0.54764	2.641000	0.89580	0.591000	0.81541	GAA		0.473	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		A	21811363	G	A	21811363	3	1	421	1	0	0	0	0	1	0	0	0	13552	943	33	2	3590	2	RPGRIP1	14	21811363	Missense_Mutation	SNP	G	TCGA-61-1728-01A-01W-0699-08		21811363	85538177	10	23116											
PRPF8	10594	broad.mit.edu	37	17	1563792	1563792	+	Silent	SNP	G	G	A			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr17:1563792G>A	ENST00000572621.1	-	29	4984	c.4719C>T	c.(4717-4719)ctC>ctT	p.L1573L	PRPF8_ENST00000304992.6_Silent_p.L1573L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1573	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.L1573L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGATCTGGATGAGAGAGATCT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	17											215	213	214					17																	1563792		2203	4300	6503	1510542	SO:0001819	synonymous_variant	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4719C>T	17.37:g.1563792G>A			1510542	O14547|O75965	Silent	SNP	ENST00000572621.1	37	CCDS11010.1																																																																																				0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			A	1563792	G	A	1563792	2	1	421	1	0	0	0	0	0	0	0	1	12578	1277	45	2		2	PRPF8	17	1563792	Silent	SNP	G	TCGA-61-1728-01A-01W-0699-08		1563792	79631418	11	23117											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578190	T	C	7578190	3	2	421	1	0	0	0	0	1	0	0	0	16381	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-61-1728-01A-01W-0699-08	6014398	7578190	73617020	12	23118											
RPRD1A	55197	broad.mit.edu	37	18	33606959	33606959	+	Silent	SNP	C	C	T			TCGA-61-1728-01A-01W-0699-08	TCGA-61-1728-11A-01W-0700-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	86885e9b-7a37-4806-ab3e-768c65a384a3	f4580d27-fac8-4f4f-a926-cb30314493b0	g.chr18:33606959C>T	ENST00000399022.4	-	6	864	c.693G>A	c.(691-693)gcG>gcA	p.A231A	RPRD1A_ENST00000337059.5_Silent_p.A195A|RPRD1A_ENST00000588737.1_Silent_p.A195A|RPRD1A_ENST00000319040.6_Silent_p.A231A|RPRD1A_ENST00000590898.1_Silent_p.A195A|RPRD1A_ENST00000357384.4_Silent_p.A231A	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	231					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.A231A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						CTATTTCTGCCGCCAATCTGC	0.413																																																1	Substitution - coding silent(1)	ovary(1)	18											83	79	80					18																	33606959		2203	4299	6502	31860957	SO:0001819	synonymous_variant	55197			AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.693G>A	18.37:g.33606959C>T			31860957	A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Silent	SNP	ENST00000399022.4	37	CCDS11917.1																																																																																				0.413	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		T	33606959	C	T	33606959	2	4	421	1	0	0	0	0	0	0	0	1	13618	639	23	1		1	RPRD1A	18	33606959	Silent	SNP	C	TCGA-61-1728-01A-01W-0699-08		33606959	44470289	13	23119											
KIF1B	23095	genome.wustl.edu	37	1	10357119	10357119	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:10357119C>G	ENST00000377086.1	+	21	2228	c.2026C>G	c.(2026-2028)Caa>Gaa	p.Q676E	KIF1B_ENST00000377093.4_Missense_Mutation_p.Q630E|KIF1B_ENST00000263934.6_Missense_Mutation_p.Q630E|KIF1B_ENST00000377081.1_Missense_Mutation_p.Q676E|KIF1B_ENST00000377083.1_Missense_Mutation_p.Q630E|RNU6-37P_ENST00000362692.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B	676					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGATATGAAACAAGAGATGGA	0.403																																																0			1											39	41	40					1																	10357119		2203	4300	6503	10279706	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2026C>G	1.37:g.10357119C>G	ENSP00000366290:p.Gln676Glu		10279706	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	C	16.56	3.157985	0.57368	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	L	0.35723	1.085	0.80722	D	1	B;B;D;B;P;P;B	0.61080	0.059;0.029;0.989;0.129;0.934;0.726;0.029	B;B;D;B;P;B;B	0.72338	0.068;0.027;0.977;0.046;0.53;0.265;0.039	T	0.66352	-0.5945	10	0.02654	T	1	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	662;636;676;650;676;630;630	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	E	676;630;630;676;630;676	ENSP00000263934:Q630E;ENSP00000366297:Q630E;ENSP00000366290:Q676E;ENSP00000366287:Q630E;ENSP00000366284:Q676E	ENSP00000263934:Q630E	Q	+	1	0	KIF1B	10279706	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	CAA		0.403	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			G	10357119	C	G	10357119	3	3	422	1	0	0	0	0	1	0	0	0	8284	479	17	3	1958	3	KIF1B	1	10357119	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09		10357119	238893502	1	23120											
TNFRSF8	943	genome.wustl.edu	37	1	12144524	12144524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:12144524C>T	ENST00000263932.2	+	2	289	c.67C>T	c.(67-69)Cga>Tga	p.R23*	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	23					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CTGCCAGGATCGACCCTTCGA	0.592																																																0			1											89	78	82					1																	12144524		2203	4300	6503	12067111	SO:0001587	stop_gained	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.67C>T	1.37:g.12144524C>T	ENSP00000263932:p.Arg23*		12067111	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Nonsense_Mutation	SNP	ENST00000263932.2	37	CCDS144.1	.	.	.	.	.	.	.	.	.	.	c	19.95	3.921294	0.73213	.	.	ENSG00000120949	ENST00000263932	.	.	.	4.21	3.28	0.37604	.	1.035080	0.07720	N	0.943408	.	.	.	.	.	.	0.25600	N	0.98661	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-4.1639	9.3999	0.38426	0.2125:0.7875:0.0:0.0	.	.	.	.	X	23	.	ENSP00000263932:R23X	R	+	1	2	TNFRSF8	12067111	0.159000	0.22864	0.255000	0.24374	0.091000	0.18340	0.538000	0.23160	1.322000	0.45245	0.558000	0.71614	CGA		0.592	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			T	12144524	C	T	12144524	4	4	422	1	0	0	0	0	0	1	0	0	16299	876	31	1	73	1	TNFRSF8	1	12144524	Nonsense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	1787405	12144524	237106097	2	23121											
EIF2C3	192669	genome.wustl.edu	37	1	36492752	36492752	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:36492752G>T	ENST00000373191.4	+	12	1793	c.1444G>T	c.(1444-1446)Gca>Tca	p.A482S	AGO3_ENST00000246314.6_Missense_Mutation_p.A248S	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	482					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TTCTAAGGATGCAGGGATGCC	0.473																																																0			1											103	107	106					1																	36492752		2203	4300	6503	36265339	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1444G>T	1.37:g.36492752G>T	ENSP00000362287:p.Ala482Ser		36265339	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180275	0.57800	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05447	3.44;3.44	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	L	0.55017	1.72	0.80722	D	1	B	0.22003	0.063	B	0.28011	0.085	T	0.23048	-1.0199	10	0.13108	T	0.6	-23.9001	19.3346	0.94309	0.0:0.0:1.0:0.0	.	482	Q9H9G7	AGO3_HUMAN	S	482;248	ENSP00000362287:A482S;ENSP00000246314:A248S	ENSP00000246314:A248S	A	+	1	0	EIF2C3	36265339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.822000	0.99363	2.549000	0.85964	0.650000	0.86243	GCA		0.473	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		T	36492752	G	T	36492752	3	4	422	1	0	0	0	0	1	0	0	0	5007	1319	46	3	1490	3	EIF2C3	1	36492752	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09	24348228	36492752	212757869	3	23122											
MACF1	23499	genome.wustl.edu	37	1	39920604	39920604	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:39920604C>A	ENST00000372915.3	+	88	20694	c.20607C>A	c.(20605-20607)caC>caA	p.H6869Q	MACF1_ENST00000289893.4_Missense_Mutation_p.H5413Q|MACF1_ENST00000539005.1_Missense_Mutation_p.H4781Q|MACF1_ENST00000317713.7_Missense_Mutation_p.H4911Q|MACF1_ENST00000545844.1_Missense_Mutation_p.H4911Q|MACF1_ENST00000567887.1_Missense_Mutation_p.H7007Q|MACF1_ENST00000361689.2_Missense_Mutation_p.H4911Q|MACF1_ENST00000564288.1_Missense_Mutation_p.H6970Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6869					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTAAGCAGCACCAGCAGCGTC	0.512																																																0			1											80	70	74					1																	39920604		2203	4300	6503	39693191	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20607C>A	1.37:g.39920604C>A	ENSP00000362006:p.His6869Gln		39693191	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	24.4|24.4|24.4	4.531082|4.531082|4.531082	0.85706|0.85706|0.85706	.|.|.	.|.|.	ENSG00000127603|ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925|ENST00000360115	T;T;T;T;T;T|.|.	0.48522|.|.	0.81;0.81;0.81;0.81;0.81;0.81|.|.	5.4|5.4|5.4	4.49|4.49|4.49	0.54785|0.54785|0.54785	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000007|.|.	T|T|T	0.62011|0.62011|0.62011	0.2393|0.2393|0.2393	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	0.998;1.0|.|.	D;D|.|.	0.97110|.|.	0.985;1.0|.|.	T|T|T	0.59600|0.59600|0.59600	-0.7424|-0.7424|-0.7424	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	.|.|.	13.9009|13.9009|13.9009	0.63802|0.63802|0.63802	0.0:0.9267:0.0:0.0733|0.0:0.9267:0.0:0.0733|0.0:0.9267:0.0:0.0733	.|.|.	6869;4911|.|.	Q9UPN3;F8W8Q1|.|.	MACF1_HUMAN;.|.|.	Q|T|N	4911;6869;4911;4911;4781;5413|3915|13	ENSP00000439537:H4911Q;ENSP00000362006:H6869Q;ENSP00000354573:H4911Q;ENSP00000313438:H4911Q;ENSP00000444364:H4781Q;ENSP00000289893:H5413Q|.|.	ENSP00000289893:H5413Q|.|.	H|P|T	+|+|+	3|1|2	2|0|0	MACF1|MACF1|MACF1	39693191|39693191|39693191	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	2.629000|2.629000|2.629000	0.46485|0.46485|0.46485	1.273000|1.273000|1.273000	0.44346|0.44346|0.44346	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAC|CCA|ACC		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39920604	C	A	39920604	3	1	422	1	0	0	0	0	1	0	0	0	9144	506	18	3	21222	3	MACF1	1	39920604	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	3427852	39920604	209330017	4	23123											
AMY2B	280	genome.wustl.edu	37	1	104114357	104114357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:104114357C>T	ENST00000361355.4	+	3	749	c.133C>T	c.(133-135)Cga>Tga	p.R45*	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	45					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGAATGTGAGCGATATTTAGC	0.413																																																0			1											127	123	124					1																	104114357		2202	4280	6482	103915880	SO:0001587	stop_gained	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.133C>T	1.37:g.104114357C>T	ENSP00000354610:p.Arg45*		103915880	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Nonsense_Mutation	SNP	ENST00000361355.4	37	CCDS782.1	.	.	.	.	.	.	.	.	.	.	C	40	8.382822	0.98786	.	.	ENSG00000240038	ENST00000361355;ENST00000435302;ENST00000453959	.	.	.	4.85	2.89	0.33648	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.944	0.64073	0.2461:0.7539:0.0:0.0	.	.	.	.	X	45	.	ENSP00000354610:R45X	R	+	1	2	AMY2B	103915880	0.989000	0.36119	0.998000	0.56505	0.992000	0.81027	1.846000	0.39289	0.398000	0.25338	0.585000	0.79938	CGA		0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		T	104114357	C	T	104114357	4	4	422	1	0	0	0	0	0	1	0	0	595	760	27	1	135	1	AMY2B	1	104114357	Nonsense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	64193753	104114357	145136264	5	23124											
ANKRD35	148741	genome.wustl.edu	37	1	145561930	145561930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:145561930C>T	ENST00000355594.4	+	10	1705	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	540										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGGAAGCCCGACTGGAGCG	0.637																																					Melanoma(9;127 754 22988 51047)											0			1											52	64	60					1																	145561930		2202	4300	6502	144273287	SO:0001587	stop_gained	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1618C>T	1.37:g.145561930C>T	ENSP00000347802:p.Arg540*		144273287	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Nonsense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814565	0.50527	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	.	.	.	5.24	-0.724	0.11177	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.229	9.1456	0.36930	0.6788:0.2148:0.1063:0.0	.	.	.	.	X	449;540	.	ENSP00000347802:R540X	R	+	1	2	ANKRD35	144273287	0.915000	0.31059	0.239000	0.24122	0.257000	0.26127	0.522000	0.22909	-0.301000	0.08882	0.655000	0.94253	CGA		0.637	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		T	145561930	C	T	145561930	4	4	422	1	0	0	0	0	0	1	0	0	664	644	23	1	1656	1	ANKRD35	1	145561930	Nonsense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	41447573	145561930	103688691	6	23125											
TDRKH	11022	genome.wustl.edu	37	1	151755385	151755385	+	Silent	SNP	C	C	T	rs184904531		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:151755385C>T	ENST00000368822.1	-	2	747	c.114G>A	c.(112-114)agG>agA	p.R38R	TDRKH_ENST00000458431.2_Silent_p.R38R|TDRKH_ENST00000368827.6_Silent_p.R38R|TDRKH_ENST00000368823.1_Silent_p.R38R|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Silent_p.R38R|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Silent_p.R38R			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	38					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTGCTTTCCCTATACCTGC	0.468																																																0			1											117	119	118					1																	151755385		1895	4103	5998	150022009	SO:0001819	synonymous_variant	11022			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.114G>A	1.37:g.151755385C>T			150022009	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	CCDS41394.1																																																																																				0.468	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		T	151755385	C	T	151755385	2	4	422	1	0	0	0	0	0	0	0	1	15737	622	22	2		2	TDRKH	1	151755385	Silent	SNP	C	TCGA-61-1730-01A-01W-0639-09	6193455	151755385	97495236	7	23126											
MFSD4	148808	genome.wustl.edu	37	1	205568306	205568307	+	Frame_Shift_Ins	INS	-	-	TTTG			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr1:205568306_205568307insTTTG	ENST00000367147.4	+	9	1509_1510	c.1416_1417insTTTG	c.(1417-1419)tttfs	p.-473fs	MFSD4_ENST00000478555.1_3'UTR|MFSD4_ENST00000536357.1_Frame_Shift_Ins_p.-386fs|MFSD4_ENST00000539267.1_3'UTR	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GTGGCGTGATCTTTGGTTGTCT	0.46																																																0			1																																								203834930	SO:0001589	frameshift_variant	148808			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.1417_1420dupTTTG	1.37:g.205568307_205568310dupTTTG	ENSP00000356115:p.Phe473fs		203834929	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Frame_Shift_Ins	INS	ENST00000367147.4	37	CCDS1455.1																																																																																				0.46	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		TTTG	205568307	-	TTTG	205568306	7	5	422	1	0	1	1	0	0	0	0	0	9533	903	32	0	1450	0	MFSD4	1	205568306	Frame_Shift_Ins	INS	-	TCGA-61-1730-01A-01W-0639-09	53812921	205568306	43682315	8	23127											
ALK	238	genome.wustl.edu	37	2	29416200	29416200	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr2:29416200C>T	ENST00000389048.3	-	29	5659	c.4753G>A	c.(4753-4755)Ggc>Agc	p.G1585S	ALK_ENST00000431873.1_Missense_Mutation_p.G415S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1585					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGCTGGTAGCCGTAATTGACA	0.537			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0			2											76	73	74					2																	29416200		2203	4300	6503	29269704	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4753G>A	2.37:g.29416200C>T	ENSP00000373700:p.Gly1585Ser		29269704	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592756	0.96602	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.56103	0.48;0.48	4.69	4.69	0.59074	.	0.000000	0.48767	D	0.000165	T	0.69913	0.3164	M	0.65975	2.015	0.54753	D	0.999986	D	0.89917	1.0	D	0.68621	0.959	T	0.70040	-0.4981	10	0.39692	T	0.17	.	17.9949	0.89179	0.0:1.0:0.0:0.0	.	1585	Q9UM73	ALK_HUMAN	S	1585;415	ENSP00000373700:G1585S;ENSP00000414027:G415S	ENSP00000373700:G1585S	G	-	1	0	ALK	29269704	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.916000	0.69981	2.320000	0.78422	0.462000	0.41574	GGC		0.537	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		T	29416200	C	T	29416200	3	4	422	1	0	0	0	0	1	0	0	0	525	652	23	1	113	1	ALK	2	29416200	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09		29416200	213783173	9	23128											
ITGA6	3655	genome.wustl.edu	37	2	173352711	173352711	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr2:173352711G>T	ENST00000264106.6	+	19	2667	c.2464G>T	c.(2464-2466)Gct>Tct	p.A822S	ITGA6_ENST00000264107.7_Missense_Mutation_p.A783S|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.A778S|ITGA6_ENST00000375221.2_Missense_Mutation_p.A822S|ITGA6_ENST00000409080.1_Missense_Mutation_p.A783S|ITGA6_ENST00000409532.1_Missense_Mutation_p.A664S			P23229	ITA6_HUMAN	integrin, alpha 6	822					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGATAATTTGGCTCCAATTAC	0.343																																																0			2											158	154	155					2																	173352711		2203	4300	6503	173060957	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2464G>T	2.37:g.173352711G>T	ENSP00000264106:p.Ala822Ser		173060957	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	G	5.646	0.303884	0.10678	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	6.05	5.18	0.71444	.	0.492932	0.25347	N	0.031321	T	0.25269	0.0614	N	0.16307	0.4	0.34637	D	0.720208	B;B;B;B	0.20052	0.01;0.041;0.007;0.007	B;B;B;B	0.21708	0.022;0.036;0.022;0.027	T	0.24764	-1.0151	10	0.08599	T	0.76	.	11.7426	0.51801	0.1504:0.0:0.8496:0.0	.	778;822;783;783	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	S	664;783;822;822;778;783;822;778;8	ENSP00000386614:A664S;ENSP00000264107:A783S;ENSP00000264106:A822S;ENSP00000364369:A822S;ENSP00000341078:A778S;ENSP00000386896:A783S;ENSP00000406694:A822S;ENSP00000394169:A778S;ENSP00000388435:A8S	ENSP00000264106:A822S	A	+	1	0	ITGA6	173060957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.785000	0.47782	1.565000	0.49641	0.650000	0.86243	GCT		0.343	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				T	173352711	G	T	173352711	3	4	422	1	0	0	0	0	1	0	0	0	7880	1203	42	3	2417	3	ITGA6	2	173352711	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09	143936511	173352711	69846662	10	23129											
DGKD	8527	genome.wustl.edu	37	2	234297007	234297007	+	Silent	SNP	G	G	T	rs370379069		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr2:234297007G>T	ENST00000264057.2	+	2	273	c.261G>T	c.(259-261)acG>acT	p.T87T	DGKD_ENST00000409813.3_Silent_p.T43T|DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATGCCAAAACGGCAAAGGTGA	0.522																																																0			2											79	74	75					2																	234297007		2203	4300	6503	233961746	SO:0001819	synonymous_variant	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.261G>T	2.37:g.234297007G>T			233961746	Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	CCDS2504.1																																																																																				0.522	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		T	234297007	G	T	234297007	2	4	422	1	0	0	0	0	0	0	0	1	4467	1103	39	3		3	DGKD	2	234297007	Silent	SNP	G	TCGA-61-1730-01A-01W-0639-09	60944296	234297007	8902366	11	23130											
NMD3	51068	genome.wustl.edu	37	3	160945052	160945052	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr3:160945052G>T	ENST00000460469.1	+	3	652	c.197G>T	c.(196-198)gGa>gTa	p.G66V	NMD3_ENST00000472947.1_Missense_Mutation_p.G66V|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.G66V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	66					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CAACCACCAGGAACTTGGATA	0.368																																																0			3											145	140	142					3																	160945052		2203	4299	6502	162427746	SO:0001583	missense	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.197G>T	3.37:g.160945052G>T	ENSP00000419004:p.Gly66Val		162427746	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303972	0.40795	.	.	ENSG00000169251	ENST00000468606;ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	T;T;T;T;T;T;T;T	0.44881	0.92;0.93;0.91;0.91;0.91;0.91;0.92;0.91	5.63	0.2	0.15181	.	0.280474	0.39146	N	0.001449	T	0.32376	0.0827	L	0.33710	1.025	0.80722	D	1	B;B	0.27910	0.006;0.193	B;B	0.33890	0.026;0.172	T	0.10567	-1.0624	10	0.39692	T	0.17	-17.4747	12.0968	0.53758	0.0671:0.4739:0.459:0.0	.	66;66	C9JA08;Q96D46	.;NMD3_HUMAN	V	66	ENSP00000418852:G66V;ENSP00000418980:G66V;ENSP00000419030:G66V;ENSP00000307525:G66V;ENSP00000417559:G66V;ENSP00000418908:G66V;ENSP00000419647:G66V;ENSP00000419004:G66V	ENSP00000307525:G66V	G	+	2	0	NMD3	162427746	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	0.935000	0.28924	-0.007000	0.14345	0.591000	0.81541	GGA		0.368	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		T	160945052	G	T	160945052	3	4	422	1	0	0	0	0	1	0	0	0	10488	1174	41	3	207	3	NMD3	3	160945052	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09		160945052	37077378	12	23131											
SLC7A14	57709	genome.wustl.edu	37	3	170216489	170216489	+	Silent	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr3:170216489C>T	ENST00000231706.5	-	4	1041	c.726G>A	c.(724-726)gcG>gcA	p.A242A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	242					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACTGGCCCTCCGCCCAGTATT	0.512																																																0			3											71	68	69					3																	170216489		2203	4300	6503	171699183	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.726G>A	3.37:g.170216489C>T			171699183	B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																				0.512	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		T	170216489	C	T	170216489	2	4	422	1	0	0	0	0	0	0	0	1	14699	639	23	1		1	SLC7A14	3	170216489	Silent	SNP	C	TCGA-61-1730-01A-01W-0639-09	9271437	170216489	27805941	13	23132											
LRRC33	375387	genome.wustl.edu	37	3	196387868	196387868	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr3:196387868C>T	ENST00000328557.4	+	3	1557	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	452					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCGGGTGGGCCCCCCTAGCTG	0.577																																																0			3											120	125	123					3																	196387868		2203	4300	6503	197872265	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1354C>T	3.37:g.196387868C>T	ENSP00000328625:p.Pro452Ser		197872265		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.699087	0.00097	.	.	ENSG00000174004	ENST00000328557	T	0.46819	0.86	5.4	-5.99	0.02213	.	1.490080	0.03602	N	0.233595	T	0.36358	0.0964	L	0.55990	1.75	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.09843	T	0.71	.	7.5387	0.27725	0.4482:0.1158:0.3782:0.0578	.	452	Q86YC3	LRC33_HUMAN	S	452	ENSP00000328625:P452S	ENSP00000328625:P452S	P	+	1	0	LRRC33	197872265	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-3.027000	0.00639	-1.682000	0.01446	-1.114000	0.02060	CCC		0.577	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		T	196387868	C	T	196387868	3	4	422	1	0	0	0	0	1	0	0	0	8988	623	22	2	1360	2	LRRC33	3	196387868	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	26171379	196387868	1634562	14	23133											
DCK	1633	genome.wustl.edu	37	4	71889369	71889369	+	Silent	SNP	A	A	G	rs576990251		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr4:71889369A>G	ENST00000286648.5	+	4	892	c.495A>G	c.(493-495)caA>caG	p.Q165Q	DCK_ENST00000504730.1_Silent_p.Q165Q|DCK_ENST00000504952.1_Silent_p.Q165Q	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	165					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TGAATAACCAATTTGGCCAAA	0.333													A|||	1	0.000199681	0	0	5008	,	,		16279	0		0	False		,,,				2504	0.001															0			4											89	93	92					4																	71889369		2203	4300	6503	72108233	SO:0001819	synonymous_variant	1633			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.495A>G	4.37:g.71889369A>G			72108233	B2R8V6|Q5TZY7|Q6FI11	Silent	SNP	ENST00000286648.5	37	CCDS3548.1																																																																																				0.333	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			G	71889369	A	G	71889369	2	3	422	1	0	0	0	0	0	0	0	1	4290	98	4	4		4	DCK	4	71889369	Silent	SNP	A	TCGA-61-1730-01A-01W-0639-09		71889369	119264907	15	23134											
FAT1	2195	genome.wustl.edu	37	4	187534326	187534326	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr4:187534326C>A	ENST00000441802.2	-	13	9609	c.9400G>T	c.(9400-9402)Gtg>Ttg	p.V3134L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3134	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTTCAAACACGGTGATGGCA	0.547										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0			4											83	89	87					4																	187534326		2025	4194	6219	187771320	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9400G>T	4.37:g.187534326C>A	ENSP00000406229:p.Val3134Leu		187771320		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741373	0.69304	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.55234	0.53	5.05	5.05	0.67936	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	L	0.56199	1.76	0.80722	D	1	B	0.28820	0.224	B	0.42188	0.379	T	0.56836	-0.7913	10	0.34782	T	0.22	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	3134	Q14517	FAT1_HUMAN	L	3134;3136	ENSP00000406229:V3134L	ENSP00000260147:V3136L	V	-	1	0	FAT1	187771320	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	7.638000	0.83328	2.636000	0.89361	0.655000	0.94253	GTG		0.547	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187534326	C	A	187534326	3	1	422	1	0	0	0	0	1	0	0	0	5689	536	19	3	4426	3	FAT1	4	187534326	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	115644957	187534326	3619950	16	23135											
LMBRD2	92255	genome.wustl.edu	37	5	36123028	36123028	+	Silent	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:36123028G>A	ENST00000296603.4	-	8	1320	c.858C>T	c.(856-858)aaC>aaT	p.N286N		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	286						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCATCCATGTTCCTACCCA	0.249																																																0			5											81	82	82					5																	36123028		2202	4290	6492	36158785	SO:0001819	synonymous_variant	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.858C>T	5.37:g.36123028G>A			36158785	B3KRB6|Q9NTC7	Silent	SNP	ENST00000296603.4	37	CCDS34145.1																																																																																				0.249	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		A	36123028	G	A	36123028	2	1	422	1	0	0	0	0	0	0	0	1	8843	1368	48	2		2	LMBRD2	5	36123028	Silent	SNP	G	TCGA-61-1730-01A-01W-0639-09		36123028	144792232	17	23136											
C9	735	genome.wustl.edu	37	5	39288941	39288941	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:39288941C>A	ENST00000263408.4	-	10	1624	c.1529G>T	c.(1528-1530)tGc>tTc	p.C510F		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	510	EGF-like.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCATGTGTGGCATTTTCTTAC	0.363																																																0			5											159	150	153					5																	39288941		2203	4300	6503	39324698	SO:0001583	missense	735				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1529G>T	5.37:g.39288941C>A	ENSP00000263408:p.Cys510Phe		39324698		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158801	0.78226	.	.	ENSG00000113600	ENST00000263408	D	0.90732	-2.72	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94968	0.8372	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95118	0.8244	10	0.87932	D	0	-19.0716	19.1688	0.93569	0.0:1.0:0.0:0.0	.	510	P02748	CO9_HUMAN	F	510	ENSP00000263408:C510F	ENSP00000263408:C510F	C	-	2	0	C9	39324698	1.000000	0.71417	0.242000	0.24170	0.299000	0.27559	4.711000	0.61881	2.626000	0.88956	0.655000	0.94253	TGC		0.363	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			A	39288941	C	A	39288941	3	1	422	1	0	0	0	0	1	0	0	0	2443	710	25	3	158	3	C9	5	39288941	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	3165913	39288941	141626319	18	23137											
SLC30A5	64924	genome.wustl.edu	37	5	68423854	68423856	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	ATC	ATC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:68423854_68423856delATC	ENST00000396591.3	+	15	2632_2634	c.2022_2024delATC	c.(2020-2025)atatca>ata	p.S675del	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	675					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAGGATTAATATCATACCGAGAC	0.369																																																0			5																																								68459612	SO:0001651	inframe_deletion	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.2022_2024delATC	5.37:g.68423854_68423856delATC	ENSP00000379836:p.Ser675del		68459610	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	In_Frame_Del	DEL	ENST00000396591.3	37	CCDS3996.1																																																																																				0.369	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			-	68423856	ATC	-	68423854	7	5	422	1	0	1	0	1	0	0	0	0	14561	439	16	0	2168	0	SLC30A5	5	68423854	In_Frame_Del	DEL	ATC	TCGA-61-1730-01A-01W-0639-09	29134913	68423854	112491406	19	23138											
VCAN	1462	genome.wustl.edu	37	5	82786148	82786148	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:82786148T>A	ENST00000265077.3	+	3	867	c.302T>A	c.(301-303)gTg>gAg	p.V101E	VCAN_ENST00000502527.2_Missense_Mutation_p.V101E|VCAN_ENST00000342785.4_Missense_Mutation_p.V101E|VCAN_ENST00000512590.2_Missense_Mutation_p.V53E|VCAN_ENST00000513984.1_Missense_Mutation_p.V101E|VCAN_ENST00000343200.5_Missense_Mutation_p.V101E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	101	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAGGGAGAGTGTCTGTGCCC	0.493																																																0			5											142	132	136					5																	82786148		2203	4300	6503	82821904	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.302T>A	5.37:g.82786148T>A	ENSP00000265077:p.Val101Glu		82821904	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146010	0.57044	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.78	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.247082	0.28989	N	0.013487	T	0.60470	0.2271	M	0.91249	3.19	0.47308	D	0.999385	D;P;D;D;D	0.89917	0.999;0.919;0.992;1.0;0.996	D;P;D;D;D	0.87578	0.978;0.807;0.925;0.998;0.965	T	0.64271	-0.6447	10	0.87932	D	0	.	10.0592	0.42263	0.0:0.1368:0.0:0.8632	.	101;101;101;101;101	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	E	101;101;101;53;101;101;101	ENSP00000265077:V101E;ENSP00000340062:V101E;ENSP00000342768:V101E;ENSP00000425959:V53E;ENSP00000426251:V101E;ENSP00000426715:V101E;ENSP00000421362:V101E	ENSP00000265077:V101E	V	+	2	0	VCAN	82821904	1.000000	0.71417	0.631000	0.29282	0.271000	0.26615	4.805000	0.62561	0.450000	0.26774	0.533000	0.62120	GTG		0.493	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82786148	T	A	82786148	3	1	422	1	0	0	0	0	1	0	0	0	17138	1696	59	5	308	5	VCAN	5	82786148	Missense_Mutation	SNP	T	TCGA-61-1730-01A-01W-0639-09	14362294	82786148	98129112	20	23139											
CLK4	57396	genome.wustl.edu	37	5	178050268	178050268	+	Silent	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr5:178050268T>C	ENST00000316308.4	-	2	318	c.150A>G	c.(148-150)aaA>aaG	p.K50K	CLK4_ENST00000520957.1_Silent_p.K50K	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	50					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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;0.235)		AATCAGATTCTTTAAACTGGT	0.368																																																0			5											219	204	209					5																	178050268		2203	4300	6503	177982874	SO:0001819	synonymous_variant	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.150A>G	5.37:g.178050268T>C			177982874		Silent	SNP	ENST00000316308.4	37	CCDS4437.1																																																																																				0.368	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			C	178050268	T	C	178050268	2	2	422	1	0	0	0	0	0	0	0	1	3539	1606	56	4		4	CLK4	5	178050268	Silent	SNP	T	TCGA-61-1730-01A-01W-0639-09	95264120	178050268	2864992	21	23140											
C6orf145	221749	genome.wustl.edu	37	6	3723966	3723966	+	Nonsense_Mutation	SNP	C	C	A	rs200793898		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr6:3723966C>A	ENST00000380283.4	-	5	1077	c.583G>T	c.(583-585)Gag>Tag	p.E195*	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	195							phosphatidylinositol binding (GO:0035091)										CTGCCATTCTCAAATCTGAAA	0.537																																																0			6											87	84	85					6																	3723966		2203	4300	6503	3668965	SO:0001587	stop_gained	221749			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 145"	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.583G>T	6.37:g.3723966C>A	ENSP00000369636:p.Glu195*		3668965	A8K0N3|Q6PGP0|Q86XB7	Nonsense_Mutation	SNP	ENST00000380283.4	37	CCDS4486.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.752443|8.752443	0.98939|0.98939	.|.	.|.	ENSG00000168994|ENSG00000168994	ENST00000380283|ENST00000380277	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.235220|.	0.44902|.	D|.	0.000410|.	.|T	.|0.68833	.|0.3044	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66567	.|-0.5891	.|4	0.31617|.	T|.	0.26|.	-32.5024|-32.5024	18.5146|18.5146	0.90931|0.90931	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	195|142	.|.	ENSP00000369636:E195X|.	E|L	-|-	1|3	0|2	C6orf145|C6orf145	3668965|3668965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	6.688000|6.688000	0.74557|0.74557	2.662000|2.662000	0.90505|0.90505	0.555000|0.555000	0.69702|0.69702	GAG|TTG		0.537	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		A	3723966	C	A	3723966	4	1	422	1	0	0	0	0	0	1	0	0	2334	835	29	3	116	3	C6orf145	6	3723966	Nonsense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09		3723966	167391101	22	23141											
SLC29A4	222962	genome.wustl.edu	37	7	5338994	5338994	+	Missense_Mutation	SNP	T	T	C	rs372350514		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr7:5338994T>C	ENST00000396872.3	+	9	1306	c.1145T>C	c.(1144-1146)aTc>aCc	p.I382T	SLC29A4_ENST00000297195.4_Missense_Mutation_p.I382T|SLC29A4_ENST00000406453.3_Missense_Mutation_p.I368T|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	382					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CGCCACTGCATCCTGGGCGAG	0.652																																																0			7						T	THR/ILE,THR/ILE	0,4406		0,0,2203	62	43	50		1145,1145	3.3	1	7		50	1,8599		0,1,4299	no	missense,missense	SLC29A4	NM_001040661.1,NM_153247.2	89,89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	382/531,382/531	5338994	1,13005	2203	4300	6503	5305520	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1145T>C	7.37:g.5338994T>C	ENSP00000380081:p.Ile382Thr		5305520	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	2.680	-0.275614	0.05679	0.0	1.16E-4	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.80566	-1.39;-1.39;-1.39	4.48	3.33	0.38152	Major facilitator superfamily domain, general substrate transporter (1);	0.260691	0.35646	N	0.003061	T	0.38878	0.1057	N	0.00325	-1.645	0.24718	N	0.993167	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.44802	-0.9304	10	0.07990	T	0.79	0.0841	2.8551	0.05570	0.0:0.3623:0.0:0.6377	.	368;382	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	T	382;382;368	ENSP00000380081:I382T;ENSP00000297195:I382T;ENSP00000385845:I368T	ENSP00000297195:I382T	I	+	2	0	SLC29A4	5305520	0.994000	0.37717	0.998000	0.56505	0.976000	0.68499	2.894000	0.48640	1.658000	0.50742	0.353000	0.21931	ATC		0.652	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		C	5338994	T	C	5338994	3	2	422	1	0	0	0	0	1	0	0	0	14540	1435	50	4	1175	4	SLC29A4	7	5338994	Missense_Mutation	SNP	T	TCGA-61-1730-01A-01W-0639-09		5338994	153799669	23	23142											
GOLGA1	2800	genome.wustl.edu	37	9	127674206	127674206	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr9:127674206C>T	ENST00000373555.4	-	11	1276	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	315					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGCAAGTGTTCTTCTCCTGAT	0.443																																																0			9											238	210	220					9																	127674206		2203	4300	6503	126714027	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.943G>A	9.37:g.127674206C>T	ENSP00000362656:p.Glu315Lys		126714027	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509600	0.85282	.	.	ENSG00000136935	ENST00000373555	T	0.79845	-1.31	5.84	5.84	0.93424	.	0.147861	0.30565	U	0.009342	D	0.83473	0.5262	M	0.76328	2.33	0.58432	D	0.999993	D;P	0.55385	0.971;0.792	P;B	0.47941	0.562;0.257	T	0.82026	-0.0661	10	0.29301	T	0.29	-10.5036	16.8557	0.86005	0.0:1.0:0.0:0.0	.	214;315	Q59HA1;Q92805	.;GOGA1_HUMAN	K	315	ENSP00000362656:E315K	ENSP00000362656:E315K	E	-	1	0	GOLGA1	126714027	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	4.685000	0.61693	2.768000	0.95171	0.643000	0.83706	GAA		0.443	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		T	127674206	C	T	127674206	3	4	422	1	0	0	0	0	1	0	0	0	6551	922	32	2	1412	2	GOLGA1	9	127674206	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09		127674206	13539225	24	23143											
MRC1	4360	genome.wustl.edu	37	10	17927405	17927405	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr10:17927405G>T	ENST00000331429.2	+	22	3210	c.3107G>T	c.(3106-3108)gGt>gTt	p.G1036V																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGGGGAAAGGTTACCCTGGT	0.463																																																0			10											6	7	7					10																	17927405		1966	4155	6121	17967411	SO:0001583	missense	414308																														ENST00000331429.2:c.3107G>T	10.37:g.17927405G>T	ENSP00000332124:p.Gly1036Val		17967411		Missense_Mutation	SNP	ENST00000331429.2	37		.	.	.	.	.	.	.	.	.	.	G	18.40	3.615878	0.66672	.	.	ENSG00000183748	ENST00000331429	T	0.26067	1.76	3.83	3.83	0.44106	.	0.000000	0.56097	U	0.000039	T	0.47229	0.1434	.	.	.	0.44275	D	0.997131	D	0.89917	1.0	D	0.77004	0.989	T	0.54384	-0.8302	8	0.34782	T	0.22	-20.5375	15.0833	0.72130	0.0:0.0:1.0:0.0	.	1036	B9EJA8	.	V	1036	ENSP00000332124:G1036V	ENSP00000332124:G1036V	G	+	2	0	AL928580.1	17967411	1.000000	0.71417	0.935000	0.37517	0.982000	0.71751	7.184000	0.77705	2.127000	0.65507	0.508000	0.49915	GGT		0.463	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			T	17927405	G	T	17927405	3	4	422	1	0	0	0	0	1	0	0	0	9756	1261	44	3	3193	3	MRC1	10	17927405	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09		17927405	117607342	25	23144											
ELOVL3	83401	genome.wustl.edu	37	10	103988731	103988731	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr10:103988731G>A	ENST00000370005.3	+	4	756	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	179					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TGGTGTTCATGCCATCATGTA	0.517																																																0			10											134	122	126					10																	103988731		2203	4300	6503	103978721	SO:0001583	missense	83401			AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.535G>A	10.37:g.103988731G>A	ENSP00000359022:p.Ala179Thr		103978721	Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507107	0.44558	.	.	ENSG00000119915	ENST00000370005	T	0.24151	1.87	5.58	-0.049	0.13837	.	0.324668	0.26549	N	0.023745	T	0.23727	0.0574	L	0.57536	1.79	0.36783	D	0.884424	B	0.30114	0.269	B	0.33568	0.166	T	0.14117	-1.0484	10	0.30078	T	0.28	-30.8719	10.1236	0.42637	0.0661:0.0:0.3488:0.5851	.	179	Q9HB03	ELOV3_HUMAN	T	179	ENSP00000359022:A179T	ENSP00000359022:A179T	A	+	1	0	ELOVL3	103978721	0.346000	0.24844	0.136000	0.22124	0.401000	0.30781	0.357000	0.20199	-0.004000	0.14419	-0.182000	0.12963	GCC		0.517	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		A	103988731	G	A	103988731	3	1	422	1	0	0	0	0	1	0	0	0	5075	1319	46	2	549	2	ELOVL3	10	103988731	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09	86061326	103988731	31546016	26	23145											
PTDSS2	81490	genome.wustl.edu	37	11	479122	479122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr11:479122C>A	ENST00000308020.5	+	4	581	c.405C>A	c.(403-405)taC>taA	p.Y135*	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	135					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GTGTGGTCTACGAGCTGTTTC	0.542																																																0			11											330	294	306					11																	479122		2203	4300	6503	469122	SO:0001587	stop_gained	81490			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.405C>A	11.37:g.479122C>A	ENSP00000308258:p.Tyr135*		469122		Nonsense_Mutation	SNP	ENST00000308020.5	37	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156207	0.94686	.	.	ENSG00000174915	ENST00000308020	.	.	.	4.45	2.56	0.30785	.	0.167110	0.41396	D	0.000890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4839	6.7932	0.23711	0.0:0.5735:0.0:0.4265	.	.	.	.	X	135	.	ENSP00000308258:Y135X	Y	+	3	2	PTDSS2	469122	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.317000	0.19487	0.439000	0.26476	0.555000	0.69702	TAC		0.542	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			A	479122	C	A	479122	4	1	422	1	0	0	0	0	0	1	0	0	12740	547	19	3	419	3	PTDSS2	11	479122	Nonsense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09		479122	134527394	27	23146											
OR8K5	219453	genome.wustl.edu	37	11	55927085	55927085	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr11:55927085C>A	ENST00000313447.1	-	1	708	c.709G>T	c.(709-711)Gct>Tct	p.A237S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408																																																1	Substitution - Missense(1)	lung(1)	11											85	80	82					11																	55927085		2201	4296	6497	55683661	SO:0001583	missense	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.709G>T	11.37:g.55927085C>A	ENSP00000323853:p.Ala237Ser		55683661	Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	c	11.86	1.765018	0.31228	.	.	ENSG00000181752	ENST00000313447	T	0.00359	7.87	3.98	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.351885	0.24431	N	0.038600	T	0.00496	0.0016	M	0.93939	3.475	0.28586	N	0.909891	P	0.36768	0.569	B	0.35770	0.21	T	0.03587	-1.1022	10	0.87932	D	0	.	11.6173	0.51096	0.1805:0.8195:0.0:0.0	.	237	Q8NH50	OR8K5_HUMAN	S	237	ENSP00000323853:A237S	ENSP00000323853:A237S	A	-	1	0	OR8K5	55683661	0.994000	0.37717	0.954000	0.39281	0.155000	0.21991	3.064000	0.49986	1.019000	0.39547	-0.377000	0.06932	GCT		0.408	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		A	55927085	C	A	55927085	3	1	422	1	0	0	0	0	1	0	0	0	11245	739	26	3	217	3	OR8K5	11	55927085	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	55447963	55927085	79079431	28	23147											
TULP3	7289	genome.wustl.edu	37	12	3047447	3047447	+	Silent	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr12:3047447T>C	ENST00000448120.2	+	10	1242	c.1191T>C	c.(1189-1191)aaT>aaC	p.N397N	TULP3_ENST00000397132.2_Silent_p.N397N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	397					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCACAAAAATGACCGTAAGC	0.532																																																0			12											70	71	71					12																	3047447		2203	4300	6503	2917708	SO:0001819	synonymous_variant	7289			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.1191T>C	12.37:g.3047447T>C			2917708	B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Silent	SNP	ENST00000448120.2	37	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	t	9.057	0.993640	0.19043	.	.	ENSG00000078246	ENST00000541678;ENST00000538704	.	.	.	5.2	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.9463	8.6791	0.34198	0.0:0.1556:0.0:0.8444	.	.	.	.	R	74;63	.	.	X	+	1	0	TULP3	2917708	0.978000	0.34361	0.880000	0.34516	0.889000	0.51656	0.096000	0.15147	0.312000	0.23038	0.529000	0.55759	TGA		0.532	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		C	3047447	T	C	3047447	2	2	422	1	0	0	0	0	0	0	0	1	16775	1461	51	4		4	TULP3	12	3047447	Silent	SNP	T	TCGA-61-1730-01A-01W-0639-09		3047447	130804448	29	23148											
ACCN2	41	genome.wustl.edu	37	12	50453612	50453612	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr12:50453612C>T	ENST00000447966.2	+	3	662	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	ASIC1_ENST00000228468.4_Missense_Mutation_p.R145C	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	145					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	AGCCAACTTCCGCAGCTTCAA	0.562																																																0			12											142	112	122					12																	50453612		2203	4300	6503	48739879	SO:0001583	missense	41			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.433C>T	12.37:g.50453612C>T	ENSP00000400228:p.Arg145Cys		48739879	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724052	0.89298	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.64438	-0.1;-0.1	5.03	5.03	0.67393	.	0.221567	0.35235	N	0.003357	T	0.69015	0.3064	L	0.38175	1.15	0.80722	D	1	D;D	0.64830	0.98;0.994	P;P	0.57720	0.826;0.764	T	0.71679	-0.4520	10	0.66056	D	0.02	-19.3213	19.2452	0.93899	0.0:1.0:0.0:0.0	.	145;145	P78348;P78348-1	ACCN2_HUMAN;.	C	145	ENSP00000228468:R145C;ENSP00000400228:R145C	ENSP00000228468:R145C	R	+	1	0	ACCN2	48739879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.100000	0.41777	2.732000	0.93576	0.655000	0.94253	CGC		0.562	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		T	50453612	C	T	50453612	3	4	422	1	0	0	0	0	1	0	0	0	129	652	23	1	439	1	ACCN2	12	50453612	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	47406165	50453612	83398283	30	23149											
EP400	57634	genome.wustl.edu	37	12	132502845	132502845	+	Missense_Mutation	SNP	C	C	T	rs201961439		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr12:132502845C>T	ENST00000333577.4	+	22	4418	c.4309C>T	c.(4309-4311)Cgg>Tgg	p.R1437W	EP400_ENST00000389561.2_Missense_Mutation_p.R1401W|EP400_ENST00000389562.2_Missense_Mutation_p.R1400W|EP400_ENST00000332482.4_Missense_Mutation_p.R1364W|EP400_ENST00000330386.6_Missense_Mutation_p.R1401W			Q96L91	EP400_HUMAN	E1A binding protein p400	1437					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1400W(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AAAGATACCGCGGAAACTCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	12						C	TRP/ARG	0,4406		0,0,2203	56	57	57		4201	5.4	0.5	12		57	3,8597	3.0+/-9.4	0,3,4297	yes	missense	EP400	NM_015409.4	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1401/3124	132502845	3,13003	2203	4300	6503	131068798	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4309C>T	12.37:g.132502845C>T	ENSP00000333602:p.Arg1437Trp		131068798	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	8.092	0.774832	0.16051	0.0	3.49E-4	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91740	-2.9;-2.89;-2.89;-2.88;-2.78	5.43	5.43	0.79202	.	0.119075	0.56097	D	0.000024	D	0.92941	0.7754	M	0.68952	2.095	0.34631	D	0.719658	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.51833	0.681;0.681;0.681	D	0.95971	0.8970	10	0.87932	D	0	.	12.3901	0.55355	0.2838:0.7162:0.0:0.0	.	1401;1401;1400	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	W	1437;1401;1400;1364;1401;1401;1401	ENSP00000333602:R1437W;ENSP00000374212:R1401W;ENSP00000374213:R1400W;ENSP00000331737:R1364W;ENSP00000330620:R1401W	ENSP00000330620:R1401W	R	+	1	2	EP400	131068798	1.000000	0.71417	0.541000	0.28102	0.007000	0.05969	4.908000	0.63307	2.545000	0.85829	0.655000	0.94253	CGG		0.517	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132502845	C	T	132502845	3	4	422	1	0	0	0	0	1	0	0	0	5149	759	27	1	4276	1	EP400	12	132502845	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	82049233	132502845	1349050	31	23150											
AHNAK2	113146	genome.wustl.edu	37	14	105418827	105418827	+	Silent	SNP	G	G	A	rs371134105		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr14:105418827G>A	ENST00000333244.5	-	7	3080	c.2961C>T	c.(2959-2961)gcC>gcT	p.A987A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	987						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCCTTGTCGGCCAGGGACA	0.617																																																0			14											229	257	248					14																	105418827		2036	4171	6207	104489872	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2961C>T	14.37:g.105418827G>A			104489872	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105418827	G	A	105418827	2	1	422	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105418827	Silent	SNP	G	TCGA-61-1730-01A-01W-0639-09		105418827	1930713	32	23151											
UNC13C	440279	genome.wustl.edu	37	15	54825129	54825129	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr15:54825129T>C	ENST00000260323.11	+	25	5561	c.5561T>C	c.(5560-5562)aTt>aCt	p.I1854T	UNC13C_ENST00000545554.1_Missense_Mutation_p.I1854T|UNC13C_ENST00000537900.1_Missense_Mutation_p.I1852T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1854					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGGTTATAATTGAAGAGTGT	0.323																																																0			15											43	40	41					15																	54825129		1787	4051	5838	52612421	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5561T>C	15.37:g.54825129T>C	ENSP00000260323:p.Ile1854Thr		52612421	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305982	0.60305	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.13538	2.58;2.58;2.58	5.59	4.46	0.54185	.	0.113673	0.64402	D	0.000020	T	0.15696	0.0378	M	0.68952	2.095	0.45946	D	0.998775	P	0.43094	0.799	B	0.37650	0.255	T	0.01935	-1.1244	10	0.42905	T	0.14	.	10.8725	0.46891	0.0:0.0741:0.0:0.9259	.	1854	Q8NB66	UN13C_HUMAN	T	1854;1854;1852	ENSP00000260323:I1854T;ENSP00000438156:I1854T;ENSP00000442569:I1852T	ENSP00000260323:I1854T	I	+	2	0	UNC13C	52612421	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.805000	0.75191	0.942000	0.37525	0.459000	0.35465	ATT		0.323	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54825129	T	C	54825129	3	2	422	1	0	0	0	0	1	0	0	0	16986	1493	52	4	5655	4	UNC13C	15	54825129	Missense_Mutation	SNP	T	TCGA-61-1730-01A-01W-0639-09		54825129	47706263	33	23152											
FAM81A	145773	genome.wustl.edu	37	15	59752330	59752330	+	Silent	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr15:59752330C>T	ENST00000288228.5	+	3	406	c.219C>T	c.(217-219)cgC>cgT	p.R73R		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	73										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GAGGTGACCGCTTGGCCAGGC	0.473																																																0			15											115	115	115					15																	59752330		1910	4108	6018	57539622	SO:0001819	synonymous_variant	145773				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.219C>T	15.37:g.59752330C>T			57539622		Silent	SNP	ENST00000288228.5	37	CCDS45269.1																																																																																				0.473	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		T	59752330	C	T	59752330	2	4	422	1	0	0	0	0	0	0	0	1	5628	784	28	2		2	FAM81A	15	59752330	Silent	SNP	C	TCGA-61-1730-01A-01W-0639-09	4927201	59752330	42779062	34	23153											
SYNM	23336	genome.wustl.edu	37	15	99653898	99653900	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	AGT	AGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr15:99653898_99653900delAGT	ENST00000560674.1	+	2	524_526	c.55_57delAGT	c.(55-57)agtdel	p.S19del	SYNM_ENST00000336292.6_In_Frame_Del_p.S304del|SYNM_ENST00000328642.7_In_Frame_Del_p.S304del|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	305	Coil 1A.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GACCGGCCTCAGTCTGGAGGTGG	0.581																																					Pancreas(125;1071 1762 21750 40003 40381)											0			15																																								97471423	SO:0001651	inframe_deletion	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.55_57delAGT	15.37:g.99653898_99653900delAGT	ENSP00000453040:p.Ser19del		97471421	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	In_Frame_Del	DEL	ENST00000560674.1	37																																																																																					0.581	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		-	99653900	AGT	-	99653898	7	5	422	1	0	1	0	1	0	0	0	0	15455	188	7	0	918	0	SYNM	15	99653898	In_Frame_Del	DEL	AGT	TCGA-61-1730-01A-01W-0639-09	39901568	99653898	2877494	35	23154											
TP53	7157	genome.wustl.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr17:7578535T>C	ENST00000269305.4	-	5	584	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000420246.2_Missense_Mutation_p.K132R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000413465.2_Missense_Mutation_p.K132R	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)	GCAAAACATCTTGTTGAGGGC	0.562		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"	90	Substitution - Missense(64)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(5)	lung(15)|ovary(12)|large_intestine(11)|central_nervous_system(8)|oesophagus(7)|breast(5)|bone(5)|upper_aerodigestive_tract(4)|biliary_tract(4)|urinary_tract(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|kidney(2)|prostate(2)|liver(2)|stomach(1)|endometrium(1)|skin(1)|pancreas(1)	17											46	47	47					17																	7578535		2203	4300	6503	7519260	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.395A>G	17.37:g.7578535T>C	ENSP00000269305:p.Lys132Arg		7519260	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	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072716	0.76415	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.48	4.41	0.53225	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	0.99753	0.9901	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.991;0.985;0.989;0.995;0.988;1.0	D	0.97766	1.0223	10	0.87932	D	0	-14.0777	9.8103	0.40820	0.0:0.082:0.0:0.918	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132R;ENSP00000352610:K132R;ENSP00000269305:K132R;ENSP00000398846:K132R;ENSP00000391127:K132R;ENSP00000391478:K132R;ENSP00000423862:K39R;ENSP00000424104:K132R	ENSP00000269305:K132R	K	-	2	0	TP53	7519260	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.993000	0.88291	1.020000	0.39573	-0.256000	0.11100	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578535	T	C	7578535	3	2	422	1	0	0	0	0	1	0	0	0	16381	1609	56	4	903	4	TP53	17	7578535	Missense_Mutation	SNP	T	TCGA-61-1730-01A-01W-0639-09		7578535	73616675	36	23155											
WFIKKN2	124857	genome.wustl.edu	37	17	48917361	48917361	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr17:48917361C>T	ENST00000311378.4	+	2	1240	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R145W	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	238	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGGCCGGCCCCGGCCTGAGAT	0.622																																																0			17											85	85	85					17																	48917361		2203	4300	6503	46272360	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.712C>T	17.37:g.48917361C>T	ENSP00000311184:p.Arg238Trp		46272360	Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447130	0.63178	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.67865	-0.29;-0.29	5.44	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.400107	0.25500	N	0.030250	T	0.81044	0.4741	M	0.81239	2.535	0.41341	D	0.987307	D	0.76494	0.999	D	0.70935	0.971	D	0.83514	0.0082	10	0.72032	D	0.01	.	12.7882	0.57518	0.4465:0.5535:0.0:0.0	.	238	Q8TEU8	WFKN2_HUMAN	W	145;238	ENSP00000405889:R145W;ENSP00000311184:R238W	ENSP00000311184:R238W	R	+	1	2	WFIKKN2	46272360	0.968000	0.33430	1.000000	0.80357	0.983000	0.72400	2.244000	0.43124	1.253000	0.44018	0.651000	0.88453	CGG		0.622	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		T	48917361	C	T	48917361	3	4	422	1	0	0	0	0	1	0	0	0	17359	643	23	1	718	1	WFIKKN2	17	48917361	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	41338826	48917361	32277849	37	23156											
RNF213	57674	genome.wustl.edu	37	17	78320488	78320488	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr17:78320488G>A	ENST00000582970.1	+	29	8496	c.8353G>A	c.(8353-8355)Gcc>Acc	p.A2785T	RNF213_ENST00000508628.2_Missense_Mutation_p.A2834T|RNF213_ENST00000336301.6_Missense_Mutation_p.A858T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2785					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGTGGCAGACGCCATGCAGGG	0.622																																																0			17											29	28	28					17																	78320488		2203	4300	6503	75935083	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8353G>A	17.37:g.78320488G>A	ENSP00000464087:p.Ala2785Thr		75935083	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096955	0.37048	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.31247	1.5	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	M	0.67397	2.05	0.48696	D	0.999696	D	0.63046	0.992	P	0.52758	0.708	T	0.46555	-0.9183	10	0.62326	D	0.03	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	858	Q63HN8	RN213_HUMAN	T	2785;2834;858	ENSP00000338218:A858T	ENSP00000338218:A858T	A	+	1	0	RNF213	75935083	1.000000	0.71417	0.966000	0.40874	0.164000	0.22412	9.712000	0.98738	2.751000	0.94390	0.563000	0.77884	GCC		0.622	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78320488	G	A	78320488	3	1	422	1	0	0	0	0	1	0	0	0	13480	1087	38	1	8782	1	RNF213	17	78320488	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09	29403127	78320488	2874722	38	23157											
NPHS1	4868	genome.wustl.edu	37	19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	rs146400394		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr19:36333388C>T	ENST00000378910.5	-	18	2398	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	800	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R800H(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCGCAGGCGCCCCGTTGG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		17530	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	19						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94	90	92		2399	3.4	0.2	19	dbSNP_134	92	0,8600		0,0,4300	no	missense	NPHS1	NM_004646.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	800/1242	36333388	1,13005	2203	4300	6503	41025228	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2399G>A	19.37:g.36333388C>T	ENSP00000368190:p.Arg800His		41025228	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.629	-0.818010	0.02776	2.27E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78707	-1.2;-1.2	4.46	3.43	0.39272	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.340502	0.29791	N	0.011187	T	0.76912	0.4054	M	0.65498	2.005	0.09310	N	0.999992	D	0.55385	0.971	P	0.49597	0.616	T	0.65990	-0.6034	10	0.25751	T	0.34	-1.0032	8.212	0.31488	0.0:0.8912:0.0:0.1088	.	800	O60500	NPHN_HUMAN	H	800	ENSP00000368190:R800H;ENSP00000343634:R800H	ENSP00000343634:R800H	R	-	2	0	NPHS1	41025228	0.000000	0.05858	0.179000	0.23059	0.016000	0.09150	0.127000	0.15790	1.117000	0.41842	0.558000	0.71614	CGC		0.607	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			T	36333388	C	T	36333388	3	4	422	1	0	0	0	0	1	0	0	0	10582	768	27	1	1374	1	NPHS1	19	36333388	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09		36333388	22795595	39	23158											
CABP5	56344	genome.wustl.edu	37	19	48537487	48537487	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr19:48537487T>C	ENST00000293255.2	-	5	611	c.481A>G	c.(481-483)Aca>Gca	p.T161A		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	161	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AAGTCAACTGTGCCGTCTCCA	0.602																																																0			19											51	42	45					19																	48537487		2203	4300	6503	53229299	SO:0001583	missense	56344			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"EF-hand domain containing"	13714	protein-coding gene	gene with protein product		607315	"calcium binding protein 3"	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.481A>G	19.37:g.48537487T>C	ENSP00000293255:p.Thr161Ala		53229299	A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	37	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	T	9.850	1.193461	0.22037	.	.	ENSG00000105507	ENST00000293255	T	0.71817	-0.6	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	N	0.11698	0.16	0.48511	D	0.99966	B	0.28760	0.221	B	0.39771	0.309	T	0.62091	-0.6927	10	0.72032	D	0.01	-17.25	9.2677	0.37652	0.0:0.0:0.1817:0.8183	.	161	Q9NP86	CABP5_HUMAN	A	161	ENSP00000293255:T161A	ENSP00000293255:T161A	T	-	1	0	CABP5	53229299	0.037000	0.19845	0.997000	0.53966	0.707000	0.40811	0.120000	0.15647	2.031000	0.59945	0.459000	0.35465	ACA		0.602	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		C	48537487	T	C	48537487	3	2	422	1	0	0	0	0	1	0	0	0	2534	1696	59	4	48	4	CABP5	19	48537487	Missense_Mutation	SNP	T	TCGA-61-1730-01A-01W-0639-09	12204099	48537487	10591496	40	23159											
GP6	51206	genome.wustl.edu	37	19	55525787	55525787	+	3'UTR	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr19:55525787G>A	ENST00000417454.1	-	0	1549				GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.T509M	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGCAAGACCCGTTCTGAGAGA	0.493																																																0			19											127	122	124					19																	55525787		1946	4146	6092	60217599	SO:0001624	3_prime_UTR_variant	51206			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*502C>T	19.37:g.55525787G>A			60217599	Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267363	0.23136	.	.	ENSG00000088053	ENST00000310373	T	0.00543	6.68	1.56	-2.92	0.05615	.	.	.	.	.	T	0.00356	0.0011	.	.	.	0.09310	N	1	B	0.23854	0.092	B	0.10450	0.005	T	0.44112	-0.9349	8	0.87932	D	0	.	2.116	0.03713	0.4264:0.0:0.3249:0.2488	.	509	Q9HCN6-3	.	M	509	ENSP00000308782:T509M	ENSP00000308782:T509M	T	-	2	0	GP6	60217599	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.580000	0.05827	-0.950000	0.03659	-0.258000	0.10820	ACG		0.493	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			A	55525787	G	A	55525787	1	1	422	0	1	0	0	0	0	0	0	0	6584	1145	40	1		1	GP6	19	55525787	3'UTR	SNP	G	TCGA-61-1730-01A-01W-0639-09	6988300	55525787	3603196	41	23160											
ZNF17	7565	genome.wustl.edu	37	19	57932163	57932163	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr19:57932163G>C	ENST00000601808.1	+	3	1516	c.1303G>C	c.(1303-1305)Gtt>Ctt	p.V435L	ZNF17_ENST00000307658.7_Missense_Mutation_p.V437L|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TCATCAGAGAGTTCATACTGG	0.393																																					Melanoma(149;1637 1853 29914 42869 44988)											0			19											78	82	81					19																	57932163		2192	4297	6489	62623975	SO:0001583	missense	7565			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1303G>C	19.37:g.57932163G>C	ENSP00000471905:p.Val435Leu		62623975	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492441	0.44352	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.02	-1.43	0.08884	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28366	0.0701	L	0.37630	1.12	0.22479	N	0.999065	D;B	0.53151	0.958;0.141	P;B	0.47430	0.547;0.012	T	0.15780	-1.0425	8	0.51188	T	0.08	.	3.8961	0.09139	0.5278:0.1975:0.2747:0.0	.	437;435	P17021-2;P17021	.;ZNF17_HUMAN	L	435	.	ENSP00000302455:V435L	V	+	1	0	ZNF17	62623975	0.000000	0.05858	0.409000	0.26459	0.785000	0.44390	-0.333000	0.07894	-0.189000	0.10482	0.655000	0.94253	GTT		0.393	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		C	57932163	G	C	57932163	3	2	422	1	0	0	0	0	1	0	0	0	17743	1029	36	3	1313	3	ZNF17	19	57932163	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09	2406376	57932163	1196820	42	23161											
ATRN	8455	genome.wustl.edu	37	20	3564634	3564634	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:3564634T>G	ENST00000262919.5	+	17	2922	c.2854T>G	c.(2854-2856)Tgc>Ggc	p.C952G	ATRN_ENST00000446916.2_Missense_Mutation_p.C952G	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	952	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGCATGTGGTGCAGCAACAT	0.547																																																0			20											363	294	317					20																	3564634		2203	4300	6503	3512634	SO:0001583	missense	8455			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2854T>G	20.37:g.3564634T>G	ENSP00000262919:p.Cys952Gly		3512634	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531614	0.85706	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.31769	2.35;1.48	5.64	5.64	0.86602	.	0.105254	0.64402	D	0.000001	T	0.61776	0.2374	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.68996	-0.5262	10	0.72032	D	0.01	-14.5845	15.5155	0.75822	0.0:0.0:0.0:1.0	.	952;952	O75882;O75882-2	ATRN_HUMAN;.	G	952;952;878	ENSP00000262919:C952G;ENSP00000416587:C952G	ENSP00000262919:C952G	C	+	1	0	ATRN	3512634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.137000	0.66172	0.477000	0.44152	TGC		0.547	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		G	3564634	T	G	3564634	3	3	422	1	0	0	0	0	1	0	0	0	1206	1696	59	5	2920	5	ATRN	20	3564634	Missense_Mutation	SNP	T	TCGA-61-1730-01A-01W-0639-09		3564634	59460886	43	23162											
C20orf152	140894	genome.wustl.edu	37	20	34618402	34618402	+	Silent	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:34618402G>A	ENST00000373973.3	+	12	1736	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Silent_p.K517K			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	521																	GGCCCAAGAAGAGAGAGATCT	0.488																																																0			20											155	142	146					20																	34618402		2203	4300	6503	34081816	SO:0001819	synonymous_variant	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1563G>A	20.37:g.34618402G>A			34081816	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37																																																																																					0.488	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		A	34618402	G	A	34618402	2	1	422	1	0	0	0	0	0	0	0	1	2092	933	33	2		2	C20orf152	20	34618402	Silent	SNP	G	TCGA-61-1730-01A-01W-0639-09	31053768	34618402	28407118	44	23163											
PLCG1	5335	genome.wustl.edu	37	20	39791295	39791295	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:39791295G>A	ENST00000373271.1	+	6	1016	c.611G>A	c.(610-612)cGc>cAc	p.R204H	PLCG1_ENST00000373272.2_Missense_Mutation_p.R204H|PLCG1_ENST00000244007.3_Missense_Mutation_p.R204H	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	204					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTGGAGCAGCGCAGCGGGGAC	0.627																																																0			20											58	43	48					20																	39791295		2203	4300	6503	39224709	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.611G>A	20.37:g.39791295G>A	ENSP00000362368:p.Arg204His		39224709	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148155	0.57151	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.42513	0.97;0.97;0.97	5.09	5.09	0.68999	EF-hand-like domain (1);	0.222920	0.41294	D	0.000919	T	0.37046	0.0989	L	0.59436	1.845	0.80722	D	1	P;P	0.41475	0.573;0.751	B;B	0.29598	0.072;0.104	T	0.33497	-0.9866	10	0.30854	T	0.27	.	18.4943	0.90858	0.0:0.0:1.0:0.0	.	204;204	P19174;A2A284	PLCG1_HUMAN;.	H	204	ENSP00000244007:R204H;ENSP00000362368:R204H;ENSP00000362369:R204H	ENSP00000244007:R204H	R	+	2	0	PLCG1	39224709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.064000	0.93933	2.376000	0.81061	0.561000	0.74099	CGC		0.627	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		A	39791295	G	A	39791295	3	1	422	1	0	0	0	0	1	0	0	0	12035	1087	38	1	633	1	PLCG1	20	39791295	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09	5172893	39791295	23234225	45	23164											
MMP9	4318	genome.wustl.edu	37	20	44641960	44641960	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:44641960C>T	ENST00000372330.3	+	9	1416	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	466					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T466M(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCTCCCCCGACGGTCTGCCCC	0.682											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	large_intestine(1)	20											44	59	54					20																	44641960		2186	4273	6459	44075367	SO:0001583	missense	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1397C>T	20.37:g.44641960C>T	ENSP00000361405:p.Thr466Met	925	44075367	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938940	0.34189	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.22134	1.97	4.63	3.62	0.41486	.	.	.	.	.	T	0.19604	0.0471	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.50231	0.635	T	0.11494	-1.0585	9	0.45353	T	0.12	.	13.8455	0.63466	0.1634:0.8366:0.0:0.0	.	466	P14780	MMP9_HUMAN	M	466;111	ENSP00000361405:T466M	ENSP00000361405:T466M	T	+	2	0	MMP9	44075367	0.002000	0.14202	0.027000	0.17364	0.157000	0.22087	0.842000	0.27627	2.376000	0.81061	0.655000	0.94253	ACG		0.682	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			T	44641960	C	T	44641960	3	4	422	1	0	0	0	0	1	0	0	0	9669	536	19	1	1431	1	MMP9	20	44641960	Missense_Mutation	SNP	C	TCGA-61-1730-01A-01W-0639-09	4850665	44641960	18383560	46	23165											
CDH4	1002	genome.wustl.edu	37	20	60498678	60498678	+	Missense_Mutation	SNP	G	G	T	rs202235537		TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chr20:60498678G>T	ENST00000360469.5	+	10	1632	c.1544G>T	c.(1543-1545)cGc>cTc	p.R515L	CDH4_ENST00000543233.1_Missense_Mutation_p.R441L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	515	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AAGCTGATCCGCCTGGAGGAG	0.612																																																0			20											69	59	62					20																	60498678		2203	4300	6503	59932073	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1544G>T	20.37:g.60498678G>T	ENSP00000353656:p.Arg515Leu		59932073	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796267	0.70567	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53206	0.63;0.63	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.72118	2.19	0.58432	D	0.999992	D	0.53619	0.961	P	0.60012	0.867	T	0.67122	-0.5750	9	.	.	.	.	17.6758	0.88230	0.0:0.0:1.0:0.0	.	515	P55283	CADH4_HUMAN	L	515;423;441	ENSP00000353656:R515L;ENSP00000443301:R441L	.	R	+	2	0	CDH4	59932073	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.491000	0.60326	2.162000	0.67917	0.543000	0.68304	CGC		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60498678	G	T	60498678	3	4	422	1	0	0	0	0	1	0	0	0	3112	1087	38	3	1582	3	CDH4	20	60498678	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09	15856718	60498678	2526842	47	23166											
THOC2	57187	genome.wustl.edu	37	X	122800995	122800995	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1730-01A-01W-0639-09	TCGA-61-1730-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7ea79695-b5ea-4754-8e1e-604be883d781	c144342d-3569-43ce-addc-7e977f91ff60	g.chrX:122800995G>C	ENST00000245838.8	-	11	1183	c.1152C>G	c.(1150-1152)tgC>tgG	p.C384W	THOC2_ENST00000491737.1_Missense_Mutation_p.C269W|THOC2_ENST00000355725.4_Missense_Mutation_p.C384W	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	384					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAATGAGCTTGCAAATAGCAA	0.368																																																0			X											142	123	129					X																	122800995		1886	4091	5977	122628676	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1152C>G	X.37:g.122800995G>C	ENSP00000245838:p.Cys384Trp		122628676	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737586	0.69304	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.79587	0.4471	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.98;0.989	T	0.80358	-0.1416	9	0.38643	T	0.18	-5.1352	11.6554	0.51315	0.084:0.0:0.916:0.0	.	305;384	B4DKZ6;Q8NI27	.;THOC2_HUMAN	W	384;384;269;305	.	ENSP00000245838:C384W	C	-	3	2	THOC2	122628676	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.921000	0.48852	2.302000	0.77476	0.591000	0.81541	TGC		0.368	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			C	122800995	G	C	122800995	3	2	422	1	0	0	0	0	1	0	0	0	15865	1311	46	3	3741	3	THOC2	23	122800995	Missense_Mutation	SNP	G	TCGA-61-1730-01A-01W-0639-09		122800995	32469565	48	23167											
KCNAB2	8514	genome.wustl.edu	37	1	6132838	6132838	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr1:6132838G>A	ENST00000164247.1	+	4	707	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	KCNAB2_ENST00000378111.1_Missense_Mutation_p.R48Q|KCNAB2_ENST00000352527.1_Missense_Mutation_p.R34Q|KCNAB2_ENST00000602612.1_Missense_Mutation_p.R48Q|KCNAB2_ENST00000378083.3_Missense_Mutation_p.R81Q|KCNAB2_ENST00000341524.1_Missense_Mutation_p.R48Q|KCNAB2_ENST00000378097.1_Missense_Mutation_p.R48Q|KCNAB2_ENST00000378092.1_Missense_Mutation_p.R34Q|KCNAB2_ENST00000458166.2_5'UTR|KCNAB2_ENST00000378087.3_Missense_Mutation_p.R48Q	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	48					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.R48P(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCCTGCGGGTCTCCTGC	0.647																																																1	Substitution - Missense(1)	skin(1)	1											131	124	126					1																	6132838		2203	4300	6503	6055425	SO:0001583	missense	8514			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.143G>A	1.37:g.6132838G>A	ENSP00000164247:p.Arg48Gln		6055425	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	CCDS55.1	.	.	.	.	.	.	.	.	.	.	-	27.1	4.797682	0.90538	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000378092;ENST00000445501;ENST00000428161;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000352527;ENST00000435937;ENST00000164247;ENST00000378083	T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	4.71	4.71	0.59529	NADP-dependent oxidoreductase domain (2);	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	N	0.08118	0	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.999;0.512	D;P;P;B	0.74674	0.984;0.834;0.751;0.04	T	0.48445	-0.9035	10	0.20519	T	0.43	-43.4851	17.0504	0.86517	0.0:0.0:1.0:0.0	.	81;34;48;48	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	Q	48;48;34;48;34;48;48;48;34;34;48;81	ENSP00000367351:R48Q;ENSP00000367337:R48Q;ENSP00000367332:R34Q;ENSP00000400285:R34Q;ENSP00000374283:R48Q;ENSP00000367327:R48Q;ENSP00000340824:R48Q;ENSP00000318772:R34Q;ENSP00000389151:R34Q;ENSP00000164247:R48Q;ENSP00000367323:R81Q	ENSP00000164247:R48Q	R	+	2	0	KCNAB2	6055425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.520000	0.90566	2.315000	0.78130	0.552000	0.68991	CGG		0.647	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		A	6132838	G	A	6132838	3	1	423	1	0	0	0	0	1	0	0	0	8010	1116	39	1	153	1	KCNAB2	1	6132838	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09		6132838	243117783	1	23168											
RPL22	6146	genome.wustl.edu	37	1	6246830	6246830	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr1:6246830G>A	ENST00000234875.4	-	4	327	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	RPL22_ENST00000484532.1_Intron|RPL22_ENST00000497965.1_Missense_Mutation_p.R64C	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	97					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACCAGTCACGTAGATTATTC	0.393			T	RUNX1	"AML, CML"																																		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	0			1											30	31	31					1																	6246830		2200	4295	6495	6169417	SO:0001583	missense	6146			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"L ribosomal proteins"	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.289C>T	1.37:g.6246830G>A	ENSP00000346088:p.Arg97Cys		6169417	B2R495|Q6IBD1	Missense_Mutation	SNP	ENST00000234875.4	37	CCDS58.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633954	0.67130	.	.	ENSG00000116251	ENST00000234875	T	0.60171	0.21	5.43	5.43	0.79202	.	0.104546	0.64402	D	0.000005	T	0.66848	0.2831	M	0.86953	2.85	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.67684	-0.5607	10	0.66056	D	0.02	-13.9147	19.2292	0.93831	0.0:0.0:1.0:0.0	.	97	P35268	RL22_HUMAN	C	97	ENSP00000346088:R97C	ENSP00000346088:R97C	R	-	1	0	RPL22	6169417	1.000000	0.71417	0.411000	0.26484	0.990000	0.78478	7.469000	0.80959	2.535000	0.85469	0.462000	0.41574	CGT		0.393	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		A	6246830	G	A	6246830	3	1	423	1	0	0	0	0	1	0	0	0	13571	1145	40	1	101	1	RPL22	1	6246830	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09	113992	6246830	243003791	2	23169											
MTOR	2475	genome.wustl.edu	37	1	11308150	11308150	+	Splice_Site	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr1:11308150C>T	ENST00000361445.4	-	7	918	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	281	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTCTCTCAGACGCTATATATA	0.418																																																0			1											89	91	90					1																	11308150		2203	4300	6503	11230737	SO:0001630	splice_region_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.841-1G>A	1.37:g.11308150C>T			11230737	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487778	0.64074	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64618	-0.11	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.74881	2.28	0.80722	D	1	P	0.49783	0.928	B	0.39660	0.306	T	0.70403	-0.4881	10	0.48119	T	0.1	-4.5534	19.3137	0.94202	0.0:1.0:0.0:0.0	.	281	P42345	MTOR_HUMAN	H	281	ENSP00000354558:R281H	ENSP00000354558:R281H	R	-	2	0	MTOR	11230737	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.289000	0.78701	2.788000	0.95919	0.650000	0.86243	CGT		0.418	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	Missense_Mutation	T	11308150	C	T	11308150	5	4	423	1	0	0	0	0	0	0	1	0	9954	550	19	1	7015	1	MTOR	1	11308150	Splice_Site	SNP	C	TCGA-61-1733-01A-01W-0639-09	5061320	11308150	237942471	3	23170											
PQLC2	54896	genome.wustl.edu	37	1	19644239	19644239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr1:19644239G>A	ENST00000375153.3	+	2	708	c.68G>A	c.(67-69)tGg>tAg	p.W23*	PQLC2_ENST00000400548.2_Intron|RN7SL85P_ENST00000583604.1_RNA|PQLC2_ENST00000375155.3_Nonsense_Mutation_p.W23*	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	23					amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGGATATGGGATGTGTTG	0.627																																																0			1											222	218	220					1																	19644239		2203	4300	6503	19516826	SO:0001587	stop_gained	54896			BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.68G>A	1.37:g.19644239G>A	ENSP00000364295:p.Trp23*		19516826	B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Nonsense_Mutation	SNP	ENST00000375153.3	37	CCDS195.2	.	.	.	.	.	.	.	.	.	.	G	39	7.674716	0.98425	.	.	ENSG00000040487	ENST00000375155;ENST00000375153	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-21.0247	17.7092	0.88317	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000364295:W23X	W	+	2	0	PQLC2	19516826	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	6.271000	0.72569	2.539000	0.85634	0.478000	0.44815	TGG		0.627	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		A	19644239	G	A	19644239	4	1	423	1	0	0	0	0	0	1	0	0	12422	1357	47	2	70	2	PQLC2	1	19644239	Nonsense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09	8336089	19644239	229606382	4	23171											
LEPR	3953	genome.wustl.edu	37	1	66036294	66036294	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr1:66036294C>T	ENST00000349533.6	+	4	364	c.179C>T	c.(178-180)tCg>tTg	p.S60L	LEPR_ENST00000462765.1_3'UTR|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371060.3_Missense_Mutation_p.S60L|LEPR_ENST00000371059.3_Missense_Mutation_p.S60L|LEPR_ENST00000344610.8_Missense_Mutation_p.S60L|LEPR_ENST00000371058.1_Missense_Mutation_p.S60L|LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACTTCAAATTCGAATGGACAT	0.383																																																0			1											123	121	122					1																	66036294		2203	4300	6503	65808882	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.179C>T	1.37:g.66036294C>T	ENSP00000330393:p.Ser60Leu		65808882	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	0.185	-1.058467	0.01950	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.51325	0.73;0.76;0.74;0.71;0.73	5.41	-3.54	0.04653	.	2.060570	0.01789	N	0.032190	T	0.03520	0.0101	N	0.00771	-1.2	0.09310	N	0.999999	B;B;B;B	0.10296	0.0;0.0;0.001;0.003	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.18241	-1.0343	10	0.02654	T	1	3.2094	5.8506	0.18691	0.0:0.3276:0.3199:0.3525	.	60;60;60;60	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	L	60	ENSP00000340884:S60L;ENSP00000330393:S60L;ENSP00000360099:S60L;ENSP00000360098:S60L;ENSP00000360097:S60L	ENSP00000340884:S60L	S	+	2	0	LEPR	65808882	0.000000	0.05858	0.000000	0.03702	0.609000	0.37215	-0.592000	0.05747	-0.574000	0.05990	-0.501000	0.04562	TCG		0.383	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		T	66036294	C	T	66036294	3	4	423	1	0	0	0	0	1	0	0	0	8728	893	31	1	185	1	LEPR	1	66036294	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	46392055	66036294	183214327	5	23172											
FLG	2312	genome.wustl.edu	37	1	152284381	152284381	+	Missense_Mutation	SNP	C	C	T	rs150406394		TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr1:152284381C>T	ENST00000368799.1	-	3	3016	c.2981G>A	c.(2980-2982)gGt>gAt	p.G994D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	994	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCCGTGACCGGCTCTGTC	0.572									Ichthyosis																																							0			1						C	ASP/GLY	0,4406		0,0,2203	242	245	244		2981	-1.4	0	1	dbSNP_134	244	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG	NM_002016.1	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	994/4062	152284381	1,13005	2203	4300	6503	150551005	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2981G>A	1.37:g.152284381C>T	ENSP00000357789:p.Gly994Asp		150551005	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	5.639	0.302528	0.10678	0.0	1.16E-4	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00730	5.77	2.34	-1.39	0.08997	.	.	.	.	.	T	0.00241	0.0007	M	0.67953	2.075	0.09310	N	1	P	0.41232	0.743	B	0.28991	0.097	T	0.40869	-0.9540	9	0.12766	T	0.61	.	4.2758	0.10808	0.0:0.3649:0.4716:0.1635	.	994	P20930	FILA_HUMAN	D	994;201	ENSP00000357789:G994D	ENSP00000357789:G994D	G	-	2	0	FLG	150551005	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.217000	0.09253	-0.761000	0.04670	0.291000	0.19559	GGT		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152284381	C	T	152284381	3	4	423	1	0	0	0	0	1	0	0	0	5922	507	18	2	9208	2	FLG	1	152284381	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	86248087	152284381	96966240	6	23173											
IQGAP3	128239	genome.wustl.edu	37	1	156496285	156496285	+	Missense_Mutation	SNP	C	C	G	rs140982853	byFrequency	TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr1:156496285C>G	ENST00000361170.2	-	38	4899	c.4889G>C	c.(4888-4890)cGg>cCg	p.R1630P	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1630					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.R1630L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGTCACTTCCGCAAAAACTT	0.488																																																1	Substitution - Missense(1)	lung(1)	1											101	84	90					1																	156496285		2203	4300	6503	154762909	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4889G>C	1.37:g.156496285C>G	ENSP00000354451:p.Arg1630Pro		154762909	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134727	0.37728	.	.	ENSG00000183856	ENST00000361170	T	0.02890	4.12	4.97	2.95	0.34219	.	0.224065	0.37348	N	0.002122	T	0.00936	0.0031	L	0.47190	1.495	0.37600	D	0.920506	P	0.49253	0.921	B	0.30716	0.119	T	0.59979	-0.7352	10	0.62326	D	0.03	-15.0581	6.1436	0.20273	0.1621:0.6621:0.0:0.1758	.	1630	Q86VI3	IQGA3_HUMAN	P	1630	ENSP00000354451:R1630P	ENSP00000354451:R1630P	R	-	2	0	IQGAP3	154762909	0.552000	0.26505	0.992000	0.48379	0.697000	0.40408	0.397000	0.20883	1.321000	0.45227	0.561000	0.74099	CGG		0.488	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		G	156496285	C	G	156496285	3	3	423	1	0	0	0	0	1	0	0	0	7816	652	23	3	10	3	IQGAP3	1	156496285	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	4211904	156496285	92754336	7	23174											
LAX1	54900	genome.wustl.edu	37	1	203743519	203743519	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr1:203743519A>G	ENST00000442561.2	+	5	1297	c.907A>G	c.(907-909)Agt>Ggt	p.S303G	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.S287G	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	303					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCAGATCCCAGTGGAAGCCA	0.517																																																0			1											77	74	75					1																	203743519		2203	4300	6503	202010142	SO:0001583	missense	54900			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.907A>G	1.37:g.203743519A>G	ENSP00000406970:p.Ser303Gly		202010142	B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563215	0.45694	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	4.79	2.34	0.29019	.	0.866628	0.10281	N	0.693580	T	0.29288	0.0729	L	0.36672	1.1	0.09310	N	1	B;B	0.27732	0.187;0.187	B;B	0.25140	0.058;0.058	T	0.24440	-1.0160	9	0.39692	T	0.17	-1.1395	3.9964	0.09559	0.6696:0.2116:0.1188:0.0	.	287;303	B7Z744;Q8IWV1	.;LAX1_HUMAN	G	303;287	.	ENSP00000356186:S287G	S	+	1	0	LAX1	202010142	0.000000	0.05858	0.001000	0.08648	0.666000	0.39218	0.246000	0.18160	0.369000	0.24510	0.533000	0.62120	AGT		0.517	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		G	203743519	A	G	203743519	3	3	423	1	0	0	0	0	1	0	0	0	8648	188	7	4	970	4	LAX1	1	203743519	Missense_Mutation	SNP	A	TCGA-61-1733-01A-01W-0639-09	47247234	203743519	45507102	8	23175											
OR2L3	391192	genome.wustl.edu	37	1	248224437	248224437	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr1:248224437T>C	ENST00000359959.3	+	1	454	c.454T>C	c.(454-456)Tcg>Ccg	p.S152P	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GATCATAGGCTCGATCAATGC	0.433																																																0			1											177	202	193					1																	248224437		2203	4300	6503	246291060	SO:0001583	missense	391192			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.454T>C	1.37:g.248224437T>C	ENSP00000353044:p.Ser152Pro		246291060	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.235249	0.39498	.	.	ENSG00000198128	ENST00000359959	T	0.00115	8.71	1.91	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	1.218230	0.06416	U	0.721499	T	0.00384	0.0012	M	0.81497	2.545	0.09310	N	1	P	0.50272	0.933	P	0.54590	0.756	T	0.51482	-0.8700	10	0.66056	D	0.02	.	9.2456	0.37523	0.0:0.0:0.0:1.0	.	152	Q8NG85	OR2L3_HUMAN	P	152	ENSP00000353044:S152P	ENSP00000353044:S152P	S	+	1	0	OR2L3	246291060	0.000000	0.05858	0.242000	0.24170	0.014000	0.08584	-0.170000	0.09897	0.853000	0.35312	0.379000	0.24179	TCG		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		C	248224437	T	C	248224437	3	2	423	1	0	0	0	0	1	0	0	0	11008	1551	54	4	456	4	OR2L3	1	248224437	Missense_Mutation	SNP	T	TCGA-61-1733-01A-01W-0639-09	44480918	248224437	1026184	9	23176											
C1D	10438	genome.wustl.edu	37	2	68270116	68270116	+	Nonsense_Mutation	SNP	T	T	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr2:68270116T>A	ENST00000355848.3	-	5	378	c.331A>T	c.(331-333)Aga>Tga	p.R111*	C1D_ENST00000410067.3_Nonsense_Mutation_p.R111*|C1D_ENST00000409302.1_Nonsense_Mutation_p.R111*|C1D_ENST00000407324.1_Nonsense_Mutation_p.R150*			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	111	Interaction with NCOR1 and NCOR2. {ECO:0000250}.				apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)			lung(2)|urinary_tract(1)	3						GCTGCACCTCTGTCCAGCTTG	0.338																																																0			2											23	25	24					2																	68270116		2201	4292	6493	68123620	SO:0001587	stop_gained	10438				CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223			29911	protein-coding gene	gene with protein product	"small unique nuclear receptor co-repressor"	606997	"C1D nuclear receptor co-repressor"			9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333		Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000355848.3:c.331A>T	2.37:g.68270116T>A	ENSP00000348107:p.Arg111*		68123620	A8K336|D6W5F8|Q05D64	Nonsense_Mutation	SNP	ENST00000355848.3	37	CCDS1883.1	.	.	.	.	.	.	.	.	.	.	T	33	5.276813	0.95459	.	.	ENSG00000197223	ENST00000355848;ENST00000407324;ENST00000410067;ENST00000409302	.	.	.	5.33	4.16	0.48862	.	0.231992	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	12.7127	0.57098	0.0:0.0:0.1376:0.8624	.	.	.	.	X	111;150;111;111	.	ENSP00000348107:R111X	R	-	1	2	C1D	68123620	1.000000	0.71417	0.957000	0.39632	0.991000	0.79684	7.356000	0.79445	0.937000	0.37394	0.383000	0.25322	AGA		0.338	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3	NM_006333		A	68270116	T	A	68270116	4	1	423	1	0	0	0	0	0	1	0	0	1951	1588	55	5	98	5	C1D	2	68270116	Nonsense_Mutation	SNP	T	TCGA-61-1733-01A-01W-0639-09		68270116	174929257	10	23177											
PLA2R1	22925	genome.wustl.edu	37	2	160889591	160889591	+	Silent	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr2:160889591G>A	ENST00000283243.7	-	4	926	c.720C>T	c.(718-720)caC>caT	p.H240H	PLA2R1_ENST00000392771.1_Silent_p.H240H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	240	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTAGCAAATGTGTGAATTGA	0.413																																																0			2											139	132	135					2																	160889591		2203	4300	6503	160597837	SO:0001819	synonymous_variant	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.720C>T	2.37:g.160889591G>A			160597837	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	CCDS33309.1																																																																																				0.413	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			A	160889591	G	A	160889591	2	1	423	1	0	0	0	0	0	0	0	1	12010	1368	48	2		2	PLA2R1	2	160889591	Silent	SNP	G	TCGA-61-1733-01A-01W-0639-09	92619475	160889591	82309782	11	23178											
HOXD10	3236	genome.wustl.edu	37	2	176982003	176982003	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr2:176982003G>A	ENST00000249501.4	+	1	697	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	148					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TGAGGTTCCCGTCCCTGGATA	0.527																																																0			2											109	126	121					2																	176982003		2203	4300	6503	176690249	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.442G>A	2.37:g.176982003G>A	ENSP00000249501:p.Val148Ile		176690249	Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170414	0.57584	.	.	ENSG00000128710	ENST00000249501	T	0.27720	1.65	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	L	0.54323	1.7	0.80722	D	1	P	0.41748	0.761	B	0.32211	0.142	T	0.09552	-1.0669	10	0.48119	T	0.1	.	20.4756	0.99175	0.0:0.0:1.0:0.0	.	148	P28358	HXD10_HUMAN	I	148	ENSP00000249501:V148I	ENSP00000249501:V148I	V	+	1	0	HOXD10	176690249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.847000	0.97988	0.655000	0.94253	GTC		0.527	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			A	176982003	G	A	176982003	3	1	423	1	0	0	0	0	1	0	0	0	7319	1145	40	1	444	1	HOXD10	2	176982003	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09	16092412	176982003	66217370	12	23179											
TTN	7273	genome.wustl.edu	37	2	179596450	179596450	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr2:179596450T>C	ENST00000591111.1	-	56	16425	c.16201A>G	c.(16201-16203)Agc>Ggc	p.S5401G	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S5718G|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4474G|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12219	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCAGATGCTGCTGCCCACC	0.478																																																0			2											103	103	103					2																	179596450		1954	4143	6097	179304695	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16201A>G	2.37:g.179596450T>C	ENSP00000465570:p.Ser5401Gly		179304695	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	8.160	0.789261	0.16258	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.93	4.78	0.61160	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51907	0.1702	L	0.31804	0.96	0.80722	D	1	B	0.24317	0.101	B	0.25614	0.062	T	0.51710	-0.8671	9	0.87932	D	0	.	5.8003	0.18410	0.2407:0.0771:0.0:0.6822	.	5401	Q8WZ42	TITIN_HUMAN	G	4474	ENSP00000343764:S4474G	ENSP00000343764:S4474G	S	-	1	0	TTN	179304695	0.644000	0.27277	1.000000	0.80357	0.879000	0.50718	1.633000	0.37113	1.085000	0.41206	0.533000	0.62120	AGC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179596450	T	C	179596450	3	2	423	1	0	0	0	0	1	0	0	0	16735	1580	55	4	87597	4	TTN	2	179596450	Missense_Mutation	SNP	T	TCGA-61-1733-01A-01W-0639-09	2614447	179596450	63602923	13	23180											
TTN	7273	genome.wustl.edu	37	2	179659786	179659786	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr2:179659786T>A	ENST00000591111.1	-	7	1332	c.1108A>T	c.(1108-1110)Atc>Ttc	p.I370F	TTN_ENST00000360870.5_Missense_Mutation_p.I370F|TTN_ENST00000589042.1_Missense_Mutation_p.I370F|TTN_ENST00000359218.5_Missense_Mutation_p.I370F|TTN_ENST00000460472.2_Missense_Mutation_p.I370F|TTN_ENST00000342992.6_Missense_Mutation_p.I370F|TTN_ENST00000342175.6_Missense_Mutation_p.I370F			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGTCCTGATCTGAGTAGAG	0.582																																																0			2											121	110	114					2																	179659786		2203	4300	6503	179368031	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1108A>T	2.37:g.179659786T>A	ENSP00000465570:p.Ile370Phe		179368031	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	10.29	1.310244	0.23821	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;0.05;0.03;0.02;0.13	6.16	5.02	0.67125	.	.	.	.	.	T	0.58736	0.2143	L	0.54323	1.7	0.30045	N	0.812241	P;P;P;P;P	0.46512	0.664;0.664;0.664;0.664;0.879	B;B;B;B;B	0.41988	0.125;0.125;0.125;0.125;0.372	T	0.62627	-0.6814	9	0.87932	D	0	.	10.7968	0.46466	0.0:0.1297:0.0:0.8703	.	370;370;370;370;370	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	F	370	ENSP00000343764:I370F;ENSP00000434586:I370F;ENSP00000340554:I370F;ENSP00000352154:I370F;ENSP00000354117:I370F	ENSP00000340554:I370F	I	-	1	0	TTN	179368031	1.000000	0.71417	0.997000	0.53966	0.483000	0.33249	2.278000	0.43426	1.159000	0.42565	-0.256000	0.11100	ATC		0.582	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179659786	T	A	179659786	3	1	423	1	0	0	0	0	1	0	0	0	16735	1435	50	5	110304	5	TTN	2	179659786	Missense_Mutation	SNP	T	TCGA-61-1733-01A-01W-0639-09	63336	179659786	63539587	14	23181											
CLRN1	7401	genome.wustl.edu	37	3	150645734	150645734	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr3:150645734G>T	ENST00000327047.1	-	3	978	c.688C>A	c.(688-690)Cta>Ata	p.L230I	CLRN1_ENST00000328863.4_Missense_Mutation_p.L243I|CLRN1_ENST00000295911.2_Intron|CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	230					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAGTACATTAGATCTGCAGCT	0.363																																																0			3											56	59	58					3																	150645734		2203	4300	6503	152128424	SO:0001583	missense	7401			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.688C>A	3.37:g.150645734G>T	ENSP00000322280:p.Leu230Ile		152128424	D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816660	0.32145	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	D;D	0.86297	-2.1;-2.1	5.91	2.9	0.33743	.	0.064023	0.64402	N	0.000005	D	0.87116	0.6097	L	0.43757	1.38	0.58432	D	0.999992	D	0.69078	0.997	D	0.78314	0.991	T	0.81634	-0.0844	10	0.08599	T	0.76	-0.1087	7.4489	0.27227	0.0829:0.0:0.6203:0.2968	.	230	P58418	CLRN1_HUMAN	I	230;243	ENSP00000322280:L230I;ENSP00000329158:L243I	ENSP00000322280:L230I	L	-	1	2	CLRN1	152128424	1.000000	0.71417	0.803000	0.32268	0.980000	0.70556	3.834000	0.55798	0.272000	0.22027	-0.181000	0.13052	CTA		0.363	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			T	150645734	G	T	150645734	3	4	423	1	0	0	0	0	1	0	0	0	3557	933	33	3	39	3	CLRN1	3	150645734	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09		150645734	47376696	15	23182											
RCHY1	25898	genome.wustl.edu	37	4	76434436	76434436	+	Missense_Mutation	SNP	C	C	T	rs377417374		TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr4:76434436C>T	ENST00000324439.5	-	2	559	c.161G>A	c.(160-162)cGc>cAc	p.R54H	RCHY1_ENST00000512706.1_Missense_Mutation_p.R32H|RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000451788.1_Missense_Mutation_p.R54H|RCHY1_ENST00000513257.1_Missense_Mutation_p.R54H|RCHY1_ENST00000380840.2_Intron	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	54					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CACTTTAAAGCGATCTAGTTG	0.353																																																0			4						C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	61	57	59		161,161,161	5.7	1	4		59	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	RCHY1	NM_001008925.2,NM_001009922.2,NM_015436.3	29,29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	54/201,54/253,54/262	76434436	1,13003	2203	4299	6502	76653460	SO:0001583	missense	25898			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"RING-type (C3HC4) zinc fingers"	17479	protein-coding gene	gene with protein product	"androgen-receptor N-terminal-interacting protein", "p53-induced protein with a RING-H2 domain", "zinc finger, CHY-type"	607680	"zinc finger protein 363", "ring finger and CHY zinc finger domain containing 1"	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.161G>A	4.37:g.76434436C>T	ENSP00000321239:p.Arg54His		76653460	B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215039	0.95104	0.0	1.16E-4	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000512706;ENST00000513257	T;T	0.38722	1.14;1.12	5.7	5.7	0.88788	Zinc finger, CHY-type (2);	0.000000	0.85682	D	0.000000	T	0.75686	0.3883	H	0.95187	3.635	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;1.0;1.0	D;P;D;D	0.97110	0.909;0.796;1.0;1.0	T	0.82851	-0.0253	10	0.72032	D	0.01	-22.879	17.3381	0.87288	0.0:1.0:0.0:0.0	.	54;54;54;54	Q2KN33;Q96PM5-2;Q96PM5;G3FDP4	.;.;ZN363_HUMAN;.	H	54;54;32;54	ENSP00000321239:R54H;ENSP00000423976:R32H	ENSP00000321239:R54H	R	-	2	0	RCHY1	76653460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.606000	0.74159	2.681000	0.91329	0.650000	0.86243	CGC		0.353	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		T	76434436	C	T	76434436	3	4	423	1	0	0	0	0	1	0	0	0	13180	768	27	1	656	1	RCHY1	4	76434436	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09		76434436	114719840	16	23183											
GRID2	2895	genome.wustl.edu	37	4	94376819	94376819	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr4:94376819G>A	ENST00000282020.4	+	11	1810	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	GRID2_ENST00000510992.1_Missense_Mutation_p.D423N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	518					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCAGAGAGCCGACATAGGGAT	0.408																																																0			4											62	63	63					4																	94376819		2203	4300	6503	94595842	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1552G>A	4.37:g.94376819G>A	ENSP00000282020:p.Asp518Asn		94595842	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199873	0.94997	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.63580	-0.05;-0.05	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.85022	0.5602	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.87891	0.2684	10	0.87932	D	0	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	423;518	E9PH24;O43424	.;GRID2_HUMAN	N	518;423	ENSP00000282020:D518N;ENSP00000421257:D423N	ENSP00000282020:D518N	D	+	1	0	GRID2	94595842	1.000000	0.71417	0.963000	0.40424	0.984000	0.73092	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	GAC		0.408	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			A	94376819	G	A	94376819	3	1	423	1	0	0	0	0	1	0	0	0	6772	1058	37	1	1594	1	GRID2	4	94376819	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09	17942383	94376819	96777457	17	23184											
METTL14	57721	genome.wustl.edu	37	4	119618343	119618343	+	Silent	SNP	A	A	G			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr4:119618343A>G	ENST00000388822.5	+	7	677	c.510A>G	c.(508-510)ttA>ttG	p.L170L	METTL14_ENST00000506780.1_Silent_p.L132L			Q9HCE5	MET14_HUMAN	methyltransferase like 14	170					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ATAGGTACTTACAAGCCGATA	0.313																																																0			4											56	57	57					4																	119618343		2203	4300	6503	119837791	SO:0001819	synonymous_variant	57721			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.510A>G	4.37:g.119618343A>G			119837791	A6NIG1|Q969V2	Silent	SNP	ENST00000388822.5	37	CCDS34053.1																																																																																				0.313	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		G	119618343	A	G	119618343	2	3	423	1	0	0	0	0	0	0	0	1	9498	388	14	4		4	METTL14	4	119618343	Silent	SNP	A	TCGA-61-1733-01A-01W-0639-09	25241524	119618343	71535933	18	23185											
SV2C	22987	genome.wustl.edu	37	5	75427930	75427930	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr5:75427930G>T	ENST00000502798.2	+	2	797	c.355G>T	c.(355-357)Gac>Tac	p.D119Y	SV2C_ENST00000322285.7_Missense_Mutation_p.D119Y	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	119					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGAGTACAAGGACCGGCGGGA	0.537																																																0			5											96	112	107					5																	75427930		2073	4211	6284	75463686	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.355G>T	5.37:g.75427930G>T	ENSP00000423541:p.Asp119Tyr		75463686	Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160568	0.78226	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.44881	0.91;0.91	5.71	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);	0.586391	0.18590	N	0.136756	T	0.58694	0.2140	M	0.71581	2.175	0.54753	D	0.999986	D	0.59357	0.985	P	0.55667	0.781	T	0.63120	-0.6708	10	0.62326	D	0.03	-16.6433	15.9153	0.79512	0.0:0.0:0.8638:0.1362	.	119	Q496J9	SV2C_HUMAN	Y	119	ENSP00000423541:D119Y;ENSP00000316983:D119Y	ENSP00000316983:D119Y	D	+	1	0	SV2C	75463686	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.693000	0.68264	1.369000	0.46134	0.655000	0.94253	GAC		0.537	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			T	75427930	G	T	75427930	3	4	423	1	0	0	0	0	1	0	0	0	15419	1174	41	3	357	3	SV2C	5	75427930	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09		75427930	105487330	19	23186											
ZNF608	57507	genome.wustl.edu	37	5	123980226	123980226	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr5:123980226C>G	ENST00000306315.5	-	5	4269	c.3834G>C	c.(3832-3834)gaG>gaC	p.E1278D	ZNF608_ENST00000504926.1_Missense_Mutation_p.E851D|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1278							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCACACCACTCTCTTTATTAG	0.428																																																0			5											176	172	174					5																	123980226		2203	4300	6503	124008125	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3834G>C	5.37:g.123980226C>G	ENSP00000307746:p.Glu1278Asp		124008125	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317737	0.05386	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.47177	0.85;0.86	5.55	4.68	0.58851	.	0.432949	0.27700	N	0.018219	T	0.28699	0.0711	N	0.22421	0.69	0.29787	N	0.83353	B	0.11235	0.004	B	0.11329	0.006	T	0.14587	-1.0467	9	.	.	.	-32.08	5.3371	0.15963	0.0:0.6311:0.1646:0.2043	.	1278	Q9ULD9	ZN608_HUMAN	D	851;1278	ENSP00000427657:E851D;ENSP00000307746:E1278D	.	E	-	3	2	ZNF608	124008125	0.743000	0.28239	0.981000	0.43875	0.953000	0.61014	0.370000	0.20433	1.482000	0.48325	-0.152000	0.13540	GAG		0.428	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		G	123980226	C	G	123980226	3	3	423	1	0	0	0	0	1	0	0	0	18034	912	32	3	724	3	ZNF608	5	123980226	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	48552296	123980226	56935034	20	23187											
GFRA3	2676	genome.wustl.edu	37	5	137600068	137600068	+	Silent	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr5:137600068C>T	ENST00000274721.3	-	2	507	c.261G>A	c.(259-261)ctG>ctA	p.L87L	GFRA3_ENST00000378362.3_Silent_p.L87L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	87					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTGCTGCCTCCAGGCAGTCAG	0.587																																																0			5											103	87	92					5																	137600068		2203	4300	6503	137627967	SO:0001819	synonymous_variant	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.261G>A	5.37:g.137600068C>T			137627967	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	CCDS4201.1																																																																																				0.587	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		T	137600068	C	T	137600068	2	4	423	1	0	0	0	0	0	0	0	1	6349	581	21	2		2	GFRA3	5	137600068	Silent	SNP	C	TCGA-61-1733-01A-01W-0639-09	13619842	137600068	43315192	21	23188											
PCDHGA4	56111	genome.wustl.edu	37	5	140736473	140736473	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr5:140736473C>A	ENST00000571252.1	+	1	1706	c.1706C>A	c.(1705-1707)aCt>aAt	p.T569N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	569					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTCCCTACTGATGGCTCC	0.582																																																0			5											183	193	190					5																	140736473		2195	4298	6493	140716657	SO:0001583	missense	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1706C>A	5.37:g.140736473C>A	ENSP00000458570:p.Thr569Asn		140716657	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.582	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		A	140736473	C	A	140736473	3	1	423	1	0	0	0	0	1	0	0	0	11556	565	20	3	1708	3	PCDHGA4	5	140736473	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	3136405	140736473	40178787	22	23189											
HIST1H2BC	8347	genome.wustl.edu	37	6	26123776	26123776	+	Silent	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr6:26123776G>A	ENST00000314332.5	-	1	362	c.357C>T	c.(355-357)gtC>gtT	p.V119V	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Silent_p.V119V|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	119					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TGTACTTGGTGACGGCCTTGG	0.572																																																0			6											83	86	85					6																	26123776		2203	4300	6503	26231755	SO:0001819	synonymous_variant	8347			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.357C>T	6.37:g.26123776G>A			26231755	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000314332.5	37	CCDS4584.1																																																																																				0.572	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		A	26123776	G	A	26123776	2	1	423	1	0	0	0	0	0	0	0	1	7142	1277	45	2		2	HIST1H2BC	6	26123776	Silent	SNP	G	TCGA-61-1733-01A-01W-0639-09		26123776	144991291	23	23190											
HIST1H4G	8369	genome.wustl.edu	37	6	26246972	26246972	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr6:26246972C>A	ENST00000244537.4	-	1	287	c.234G>T	c.(232-234)aaG>aaT	p.K78N		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	78						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CCGTCTTGCGCTTGGCGTGCT	0.582																																																0			6											74	62	66					6																	26246972		2203	4300	6503	26354951	SO:0001583	missense	8369			Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"Histones / Replication-dependent"	4792	protein-coding gene	gene with protein product		602832	"H4 histone family, member L", "histone 1, H4g"	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.234G>T	6.37:g.26246972C>A	ENSP00000244537:p.Lys78Asn		26354951		Missense_Mutation	SNP	ENST00000244537.4	37	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	6.747	0.506585	0.12883	.	.	ENSG00000124578	ENST00000244537	T	0.75050	-0.9	3.05	1.16	0.20824	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.57344	0.2047	.	.	.	0.33092	D	0.538011	B	0.20887	0.049	B	0.37387	0.248	T	0.54282	-0.8317	8	0.66056	D	0.02	.	8.1345	0.31046	0.0:0.7901:0.0:0.2099	.	78	Q99525	H4G_HUMAN	N	78	ENSP00000244537:K78N	ENSP00000244537:K78N	K	-	3	2	HIST1H4G	26354951	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	5.238000	0.65366	0.131000	0.18576	0.391000	0.25812	AAG		0.582	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		A	26246972	C	A	26246972	3	1	423	1	0	0	0	0	1	0	0	0	7171	796	28	3	66	3	HIST1H4G	6	26246972	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	123196	26246972	144868095	24	23191											
MTO1	25821	genome.wustl.edu	37	6	74189702	74189702	+	Missense_Mutation	SNP	C	C	T	rs369718258		TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr6:74189702C>T	ENST00000370300.4	+	6	1072	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	MTO1_ENST00000415954.2_Missense_Mutation_p.R328C|MTO1_ENST00000498286.1_Missense_Mutation_p.R328C|MTO1_ENST00000370305.1_Missense_Mutation_p.R254C|AL603910.1_ENST00000580608.1_RNA	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	328					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTTTCCAAACCGTCTACATCA	0.388											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			6						C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	131	122	125		982,982,982	5.1	1	6		125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MTO1	NM_001123226.1,NM_012123.3,NM_133645.2	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	328/733,328/693,328/718	74189702	1,13005	2203	4300	6503	74246423	SO:0001583	missense	25821			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.982C>T	6.37:g.74189702C>T	ENSP00000359323:p.Arg328Cys	1151	74246423	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922957	0.92319	0.0	1.16E-4	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.983;0.983;0.99	D	0.90194	0.4252	10	0.87932	D	0	-15.8608	16.1022	0.81184	0.0:1.0:0.0:0.0	.	328;328;328	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	C	328;328;231;254;328	ENSP00000402038:R328C;ENSP00000419561:R328C;ENSP00000359328:R254C;ENSP00000359323:R328C	ENSP00000350506:R231C	R	+	1	0	MTO1	74246423	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.081000	0.64444	2.556000	0.86216	0.591000	0.81541	CGT		0.388	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		T	74189702	C	T	74189702	3	4	423	1	0	0	0	0	1	0	0	0	9953	652	23	1	1004	1	MTO1	6	74189702	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	47942730	74189702	96925365	25	23192											
FAM126A	84668	genome.wustl.edu	37	7	22985376	22985376	+	Silent	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr7:22985376C>T	ENST00000432176.2	-	11	1630	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	FAM126A_ENST00000498833.1_5'Flank|FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	466					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CAGCAGATGACGGGTTATGTG	0.463																																																0			7											102	95	98					7																	22985376		2203	4300	6503	22951901	SO:0001819	synonymous_variant	84668			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1398G>A	7.37:g.22985376C>T			22951901	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	CCDS5377.1																																																																																				0.463	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		T	22985376	C	T	22985376	2	4	423	1	0	0	0	0	0	0	0	1	5429	523	19	1		1	FAM126A	7	22985376	Silent	SNP	C	TCGA-61-1733-01A-01W-0639-09		22985376	136153287	26	23193											
HERPUD2	64224	genome.wustl.edu	37	7	35674035	35674035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr7:35674035G>A	ENST00000396081.1	-	7	1750	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Nonsense_Mutation_p.Q316*	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	316					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CATCCAGCTTGGTGTCTGTTC	0.343																																																0			7											116	105	108					7																	35674035		2203	4300	6503	35640560	SO:0001587	stop_gained	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.946C>T	7.37:g.35674035G>A	ENSP00000379390:p.Gln316*		35640560	A4D1Y8|Q9H6F9	Nonsense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	G	42	9.450084	0.99174	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-10.0626	19.5324	0.95234	0.0:0.0:1.0:0.0	.	.	.	.	X	316	.	ENSP00000310729:Q316X	Q	-	1	0	HERPUD2	35640560	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.621000	0.90949	2.619000	0.88677	0.460000	0.39030	CAA		0.343	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		A	35674035	G	A	35674035	4	1	423	1	0	0	0	0	0	1	0	0	7064	1357	47	2	282	2	HERPUD2	7	35674035	Nonsense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09	12688659	35674035	123464628	27	23194											
MUC17	140453	genome.wustl.edu	37	7	100683892	100683892	+	Silent	SNP	C	C	G			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr7:100683892C>G	ENST00000306151.4	+	3	9259	c.9195C>G	c.(9193-9195)acC>acG	p.T3065T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3065	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGCTAGCACCCTTTCAACAA	0.488																																																0			7											272	276	275					7																	100683892		2203	4300	6503	100470612	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9195C>G	7.37:g.100683892C>G			100470612	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100683892	C	G	100683892	2	3	423	1	0	0	0	0	0	0	0	1	9974	610	22	3		3	MUC17	7	100683892	Silent	SNP	C	TCGA-61-1733-01A-01W-0639-09	65009857	100683892	58454771	28	23195											
TG	7038	genome.wustl.edu	37	8	133935735	133935735	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr8:133935735G>A	ENST00000220616.4	+	22	4721	c.4681G>A	c.(4681-4683)Gag>Aag	p.E1561K	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1561	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCCCCTCTTGAGGACTCACA	0.582																																																0			8											61	59	60					8																	133935735		2203	4300	6503	134004917	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4681G>A	8.37:g.133935735G>A	ENSP00000220616:p.Glu1561Lys		134004917	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	7.705	0.693953	0.15039	.	.	ENSG00000042832	ENST00000543313;ENST00000220616	T	0.62498	0.02	4.84	-3.12	0.05282	Thyroglobulin type-1 (3);	7.777730	0.00909	N	0.002452	T	0.44953	0.1318	N	0.22421	0.69	0.09310	N	1	B	0.23185	0.081	B	0.14023	0.01	T	0.29488	-1.0010	10	0.87932	D	0	.	3.4813	0.07603	0.3869:0.0:0.271:0.3421	.	1561	P01266	THYG_HUMAN	K	367;1561	ENSP00000220616:E1561K	ENSP00000220616:E1561K	E	+	1	0	TG	134004917	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.116000	0.10724	-0.900000	0.03896	-0.266000	0.10368	GAG		0.582	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133935735	G	A	133935735	3	1	423	1	0	0	0	0	1	0	0	0	15813	1291	45	2	4767	2	TG	8	133935735	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09		133935735	12428287	29	23196											
NTRK2	4915	genome.wustl.edu	37	9	87342780	87342780	+	Silent	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr9:87342780C>T	ENST00000323115.4	+	8	1418	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N	NTRK2_ENST00000359847.3_Silent_p.N355N|NTRK2_ENST00000304053.6_Silent_p.N355N|NTRK2_ENST00000395882.1_Silent_p.N355N|NTRK2_ENST00000376214.1_Silent_p.N355N|NTRK2_ENST00000277120.3_Silent_p.N355N|NTRK2_ENST00000376213.1_Silent_p.N355N|NTRK2_ENST00000395866.2_Silent_p.N199N|NTRK2_ENST00000376208.1_Silent_p.N355N			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	355	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CTCACATGAACAATGGGGACT	0.443										TSP Lung(25;0.17)																																						0			9											125	116	119					9																	87342780		2203	4300	6503	86532600	SO:0001819	synonymous_variant	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1065C>T	9.37:g.87342780C>T			86532600	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	CCDS35050.1																																																																																				0.443	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			T	87342780	C	T	87342780	2	4	423	1	0	0	0	0	0	0	0	1	10707	477	17	2		2	NTRK2	9	87342780	Silent	SNP	C	TCGA-61-1733-01A-01W-0639-09		87342780	53870651	30	23197											
ACTL7A	10881	genome.wustl.edu	37	9	111624743	111624743	+	Silent	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr9:111624743G>A	ENST00000333999.3	+	1	141	c.141G>A	c.(139-141)acG>acA	p.T47T		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	47	Required for interaction with TES.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCGCCATACGAGTTCAGAGC	0.617																																					Esophageal Squamous(177;1480 3591 17554)											0			9											59	58	59					9																	111624743		2203	4300	6503	110664564	SO:0001819	synonymous_variant	10881			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.141G>A	9.37:g.111624743G>A			110664564	B2RC83|Q5JSV0	Silent	SNP	ENST00000333999.3	37	CCDS6772.1																																																																																				0.617	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		A	111624743	G	A	111624743	2	1	423	1	0	0	0	0	0	0	0	1	200	1045	37	1		1	ACTL7A	9	111624743	Silent	SNP	G	TCGA-61-1733-01A-01W-0639-09	24281963	111624743	29588688	31	23198											
CEL	1056	genome.wustl.edu	37	9	135947125	135947125	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr9:135947125C>A	ENST00000372080.4	+	11	2261	c.2245C>A	c.(2245-2247)Cag>Aag	p.Q749K	CEL_ENST00000351304.7_Missense_Mutation_p.Q680K	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	746					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAAGGAAGCTCAGATGCCTGC	0.647																																																0			9											19	22	21					9																	135947125		1865	4082	5947	134936946	SO:0001583	missense	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2245C>A	9.37:g.135947125C>A	ENSP00000361151:p.Gln749Lys		134936946	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.906255	0.33628	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.69435	-0.2;-0.4	3.11	2.21	0.28008	.	0.735594	0.11715	N	0.536474	T	0.47967	0.1474	N	0.19112	0.55	0.20926	N	0.999822	B	0.22003	0.063	B	0.19666	0.026	T	0.42498	-0.9448	10	0.66056	D	0.02	.	5.2697	0.15618	0.0:0.7386:0.0:0.2614	.	746	P19835	CEL_HUMAN	K	749;680;715	ENSP00000361151:Q749K;ENSP00000342217:Q680K	ENSP00000304021:Q715K	Q	+	1	0	CEL	134936946	0.023000	0.18921	0.891000	0.34965	0.140000	0.21249	0.884000	0.28214	0.890000	0.36211	0.460000	0.39030	CAG		0.647	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			A	135947125	C	A	135947125	3	1	423	1	0	0	0	0	1	0	0	0	3209	827	29	3	2287	3	CEL	9	135947125	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	24322382	135947125	5266306	32	23199											
BMS1	9790	genome.wustl.edu	37	10	43281118	43281118	+	Nonsense_Mutation	SNP	C	C	G			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr10:43281118C>G	ENST00000374518.5	+	3	428	c.365C>G	c.(364-366)tCa>tGa	p.S122*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	122	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACGATTGTGTCAGGTAGGAGA	0.473																																																0			10											100	103	102					10																	43281118		2203	4300	6503	42601124	SO:0001587	stop_gained	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.365C>G	10.37:g.43281118C>G	ENSP00000363642:p.Ser122*		42601124	Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	c	37	6.050977	0.97236	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.73	4.73	0.59995	.	0.130209	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.7968	0.88575	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000363642:S122X	S	+	2	0	BMS1	42601124	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.530000	0.81962	2.202000	0.70862	0.508000	0.49915	TCA		0.473	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		G	43281118	C	G	43281118	4	3	423	1	0	0	0	0	0	1	0	0	1472	838	29	3	371	3	BMS1	10	43281118	Nonsense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09		43281118	92253629	33	23200											
C11orf63	79864	genome.wustl.edu	37	11	122774777	122774777	+	Silent	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr11:122774777C>T	ENST00000531316.1	+	2	581	c.489C>T	c.(487-489)ctC>ctT	p.L163L	C11orf63_ENST00000307257.6_Silent_p.L163L|C11orf63_ENST00000227349.2_Silent_p.L163L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	163					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TGGCTCCCCTCTACCCTTCCC	0.517																																																0			11											60	68	66					11																	122774777		2202	4299	6501	122279987	SO:0001819	synonymous_variant	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.489C>T	11.37:g.122774777C>T			122279987	A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	CCDS8438.1																																																																																				0.517	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		T	122774777	C	T	122774777	2	4	423	1	0	0	0	0	0	0	0	1	1654	900	32	2		2	C11orf63	11	122774777	Silent	SNP	C	TCGA-61-1733-01A-01W-0639-09		122774777	12231739	34	23201											
DUSP16	80824	genome.wustl.edu	37	12	12630091	12630091	+	Silent	SNP	A	A	G			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr12:12630091A>G	ENST00000228862.2	-	7	2305	c.1674T>C	c.(1672-1674)taT>taC	p.Y558Y	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	558					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTGTGGCAAAATACCAGCTGC	0.597																																					Ovarian(158;443 1896 15437 36069 46477)											0			12											97	106	103					12																	12630091		2203	4300	6503	12521358	SO:0001819	synonymous_variant	80824			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1674T>C	12.37:g.12630091A>G			12521358	Q547C7|Q96QS2|Q9C0G3	Silent	SNP	ENST00000228862.2	37	CCDS8650.1																																																																																				0.597	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		G	12630091	A	G	12630091	2	3	423	1	0	0	0	0	0	0	0	1	4816	108	4	4		4	DUSP16	12	12630091	Silent	SNP	A	TCGA-61-1733-01A-01W-0639-09		12630091	121221804	35	23202											
GYS2	2998	genome.wustl.edu	37	12	21693497	21693497	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr12:21693497G>C	ENST00000261195.2	-	14	1910	c.1656C>G	c.(1654-1656)atC>atG	p.I552M		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	552					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCCTGTCAACGATGTAAATAC	0.408																																					Colon(149;9 1820 3690 10544 50424)											0			12											82	82	82					12																	21693497		2203	4300	6503	21584764	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1656C>G	12.37:g.21693497G>C	ENSP00000261195:p.Ile552Met		21584764	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138735	0.56936	.	.	ENSG00000111713	ENST00000261195	T	0.70164	-0.46	5.1	-4.34	0.03666	.	0.053040	0.64402	D	0.000001	T	0.80539	0.4642	M	0.88241	2.94	0.52099	D	0.999944	D	0.89917	1.0	D	0.97110	1.0	T	0.81357	-0.0969	10	0.87932	D	0	-17.6182	13.0923	0.59172	0.2036:0.0:0.6844:0.1119	.	552	P54840	GYS2_HUMAN	M	552	ENSP00000261195:I552M	ENSP00000261195:I552M	I	-	3	3	GYS2	21584764	0.357000	0.24938	0.940000	0.37924	0.978000	0.69477	-0.179000	0.09768	-0.993000	0.03467	-0.355000	0.07637	ATC		0.408	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		C	21693497	G	C	21693497	3	2	423	1	0	0	0	0	1	0	0	0	6913	1048	37	3	467	3	GYS2	12	21693497	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09	9063406	21693497	112158398	36	23203											
GLT8D2	83468	genome.wustl.edu	37	12	104390577	104390577	+	Missense_Mutation	SNP	G	G	A	rs143994495		TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr12:104390577G>A	ENST00000360814.4	-	8	941	c.536C>T	c.(535-537)gCg>gTg	p.A179V	GLT8D2_ENST00000548660.1_Missense_Mutation_p.A179V|GLT8D2_ENST00000546436.1_Missense_Mutation_p.A179V	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	179						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGAGAAAGCCGCCGCGTGGCC	0.483																																																0			12						G	VAL/ALA	0,4406		0,0,2203	102	106	104		536	5.1	0.8	12	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GLT8D2	NM_031302.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	179/350	104390577	2,13004	2203	4300	6503	102914707	SO:0001583	missense	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.536C>T	12.37:g.104390577G>A	ENSP00000354053:p.Ala179Val		102914707	Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147822	0.94603	0.0	2.33E-4	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.40756	1.02;1.02;1.02	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58115	-0.7693	10	0.05721	T	0.95	.	18.6084	0.91275	0.0:0.0:1.0:0.0	.	179	Q9H1C3	GL8D2_HUMAN	V	179	ENSP00000354053:A179V;ENSP00000449750:A179V;ENSP00000447450:A179V	ENSP00000354053:A179V	A	-	2	0	GLT8D2	102914707	1.000000	0.71417	0.805000	0.32314	0.801000	0.45260	9.766000	0.98957	2.385000	0.81259	0.563000	0.77884	GCG		0.483	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		A	104390577	G	A	104390577	3	1	423	1	0	0	0	0	1	0	0	0	6470	1087	38	1	529	1	GLT8D2	12	104390577	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09	82697080	104390577	29461318	37	23204											
OAS2	4939	genome.wustl.edu	37	12	113442915	113442915	+	Silent	SNP	C	C	G			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr12:113442915C>G	ENST00000342315.4	+	7	1570	c.1356C>G	c.(1354-1356)gtC>gtG	p.V452V	OAS2_ENST00000392583.2_Silent_p.V452V|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	452	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCTTGAAGTCAGCTTTGAGC	0.498																																					Pancreas(199;709 2232 18410 33584 35052)											0			12											79	70	73					12																	113442915		2203	4300	6503	111927298	SO:0001819	synonymous_variant	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1356C>G	12.37:g.113442915C>G			111927298	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	CCDS31906.1																																																																																				0.498	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			G	113442915	C	G	113442915	2	3	423	1	0	0	0	0	0	0	0	1	10800	813	29	3		3	OAS2	12	113442915	Silent	SNP	C	TCGA-61-1733-01A-01W-0639-09	9052338	113442915	20408980	38	23205											
TMEM132B	114795	genome.wustl.edu	37	12	126004129	126004129	+	Missense_Mutation	SNP	C	C	A	rs371482632	byFrequency	TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr12:126004129C>A	ENST00000299308.3	+	4	1244	c.1236C>A	c.(1234-1236)ttC>ttA	p.F412L		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	412						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCGAGATCTTCGTCAGCCAGA	0.517																																																0			12											100	100	100					12																	126004129		1959	4138	6097	124570082	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1236C>A	12.37:g.126004129C>A	ENSP00000299308:p.Phe412Leu		124570082	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	c	18.12	3.552683	0.65425	.	.	ENSG00000139364	ENST00000299308	T	0.16073	2.37	4.94	-0.934	0.10428	.	0.196353	0.22313	U	0.061718	T	0.14399	0.0348	N	0.17800	0.525	0.80722	D	1	D	0.59767	0.986	P	0.54759	0.76	T	0.07290	-1.0780	10	0.10902	T	0.67	.	11.2606	0.49080	0.0:0.3851:0.0:0.6149	.	412	Q14DG7	T132B_HUMAN	L	412	ENSP00000299308:F412L	ENSP00000299308:F412L	F	+	3	2	TMEM132B	124570082	0.094000	0.21725	0.969000	0.41365	0.995000	0.86356	-1.117000	0.03283	-0.227000	0.09884	0.621000	0.83404	TTC		0.517	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		A	126004129	C	A	126004129	3	1	423	1	0	0	0	0	1	0	0	0	16046	883	31	3	1250	3	TMEM132B	12	126004129	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	12561214	126004129	7847766	39	23206											
FBN1	2200	genome.wustl.edu	37	15	48703284	48703284	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr15:48703284T>C	ENST00000316623.5	-	66	8974	c.8519A>G	c.(8518-8520)aAa>aGa	p.K2840R	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2840					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTAAGTTCTTTCTTTTTATA	0.378																																																0			15											124	125	124					15																	48703284		2198	4297	6495	46490576	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8519A>G	15.37:g.48703284T>C	ENSP00000325527:p.Lys2840Arg		46490576	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843371	0.51057	.	.	ENSG00000166147	ENST00000316623	D	0.82081	-1.57	5.57	5.57	0.84162	.	0.147572	0.64402	D	0.000015	T	0.78065	0.4225	L	0.45051	1.395	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.72484	-0.4279	10	0.31617	T	0.26	.	15.6817	0.77373	0.0:0.0:0.0:1.0	.	2840	P35555	FBN1_HUMAN	R	2840	ENSP00000325527:K2840R	ENSP00000325527:K2840R	K	-	2	0	FBN1	46490576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.638000	0.61353	2.247000	0.74100	0.528000	0.53228	AAA		0.378	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			C	48703284	T	C	48703284	3	2	423	1	0	0	0	0	1	0	0	0	5702	1841	64	4	100	4	FBN1	15	48703284	Missense_Mutation	SNP	T	TCGA-61-1733-01A-01W-0639-09		48703284	53828108	40	23207											
CLDN6	9074	genome.wustl.edu	37	16	3065899	3065899	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr16:3065899C>T	ENST00000396925.1	-	3	552	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000328796.4_Missense_Mutation_p.V42M|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	42					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ACCTGGGCCACCACGATGCTG	0.637																																																0			16											137	107	117					16																	3065899		2198	4300	6498	3005900	SO:0001583	missense	9074			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.124G>A	16.37:g.3065899C>T	ENSP00000380131:p.Val42Met		3005900	B3KQP9|D3DUA5	Missense_Mutation	SNP	ENST00000396925.1	37	CCDS10488.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071783	0.55646	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.84298	-1.83;-1.83	4.61	4.61	0.57282	.	0.151595	0.43260	D	0.000597	D	0.87091	0.6091	M	0.84326	2.69	0.31720	N	0.638381	P	0.47034	0.889	B	0.43082	0.407	D	0.90438	0.4429	10	0.66056	D	0.02	.	15.3138	0.74056	0.0:1.0:0.0:0.0	.	42	P56747	CLD6_HUMAN	M	42	ENSP00000380131:V42M;ENSP00000328674:V42M	ENSP00000328674:V42M	V	-	1	0	CLDN6	3005900	0.067000	0.21026	1.000000	0.80357	0.996000	0.88848	0.165000	0.16564	2.557000	0.86248	0.655000	0.94253	GTG		0.637	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		T	3065899	C	T	3065899	3	4	423	1	0	0	0	0	1	0	0	0	3489	507	18	2	542	2	CLDN6	16	3065899	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09		3065899	87288854	41	23208											
RBBP6	5930	genome.wustl.edu	37	16	24582569	24582569	+	Silent	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr16:24582569C>T	ENST00000319715.4	+	18	4614	c.4182C>T	c.(4180-4182)aaC>aaT	p.N1394N	RBBP6_ENST00000381039.3_Silent_p.N554N|RBBP6_ENST00000348022.2_Silent_p.N1360N	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1394					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTCAAAAAACTCTGCATCTA	0.398																																																0			16											48	48	48					16																	24582569		2197	4300	6497	24490070	SO:0001819	synonymous_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4182C>T	16.37:g.24582569C>T			24490070	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	CCDS10621.1																																																																																				0.398	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		T	24582569	C	T	24582569	2	4	423	1	0	0	0	0	0	0	0	1	13106	564	20	2		2	RBBP6	16	24582569	Silent	SNP	C	TCGA-61-1733-01A-01W-0639-09	21516670	24582569	65772184	42	23209											
ZKSCAN2	342357	genome.wustl.edu	37	16	25258425	25258425	+	Silent	SNP	A	A	C			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr16:25258425A>C	ENST00000328086.7	-	5	1895	c.1092T>G	c.(1090-1092)ctT>ctG	p.L364L		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	364					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GACAGGCCTGAAGTGTTTCAT	0.463																																																0			16											113	108	110					16																	25258425		2197	4300	6497	25165926	SO:0001819	synonymous_variant	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1092T>G	16.37:g.25258425A>C			25165926	A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	CCDS32410.1																																																																																				0.463	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		C	25258425	A	C	25258425	2	2	423	1	0	0	0	0	0	0	0	1	17687	233	9	5		5	ZKSCAN2	16	25258425	Silent	SNP	A	TCGA-61-1733-01A-01W-0639-09	675856	25258425	65096328	43	23210											
SRCAP	10847	genome.wustl.edu	37	16	30736378	30736378	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr16:30736378C>G	ENST00000262518.4	+	25	6018	c.5633C>G	c.(5632-5634)cCa>cGa	p.P1878R	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1816R|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1720R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1878	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCCCCCCCACCACCTCGT	0.567																																																0			16											49	60	56					16																	30736378		2196	4290	6486	30643879	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5633C>G	16.37:g.30736378C>G	ENSP00000262518:p.Pro1878Arg		30643879	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495189	0.44352	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91792	-2.86;-2.89;-2.91	5.91	5.91	0.95273	.	0.000000	0.53938	D	0.000060	D	0.92841	0.7723	N	0.19112	0.55	0.41053	D	0.985312	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.963	D	0.93888	0.7177	10	0.72032	D	0.01	-10.9053	17.7921	0.88555	0.0:1.0:0.0:0.0	.	1720;1816;1878	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	1878;1816;1720	ENSP00000262518:P1878R;ENSP00000378499:P1816R;ENSP00000343042:P1720R	ENSP00000262518:P1878R	P	+	2	0	SRCAP	30643879	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.589000	0.46145	2.802000	0.96397	0.655000	0.94253	CCA		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30736378	C	G	30736378	3	3	423	1	0	0	0	0	1	0	0	0	15137	594	21	3	5723	3	SRCAP	16	30736378	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09	5477953	30736378	59618375	44	23211											
WSCD1	23302	genome.wustl.edu	37	17	5991415	5991415	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr17:5991415G>T	ENST00000574946.1	+	3	923	c.533G>T	c.(532-534)tGt>tTt	p.C178F	WSCD1_ENST00000317744.5_Missense_Mutation_p.C178F|WSCD1_ENST00000574232.1_Missense_Mutation_p.C178F|WSCD1_ENST00000573634.1_Missense_Mutation_p.C62F|WSCD1_ENST00000539421.1_Missense_Mutation_p.C178F			Q658N2	WSCD1_HUMAN	WSC domain containing 1	178	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGGATGCGTGTGCTGAGCGG	0.532																																																0			17											124	105	111					17																	5991415		2203	4300	6503	5932139	SO:0001583	missense	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.533G>T	17.37:g.5991415G>T	ENSP00000460825:p.Cys178Phe		5932139	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220433	0.79464	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.81821	-1.54;-1.54	5.83	5.83	0.93111	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.94748	0.8305	H	0.99425	4.56	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96765	0.9564	10	0.87932	D	0	-22.5436	17.61	0.88050	0.0:0.0:1.0:0.0	.	178	Q658N2	WSCD1_HUMAN	F	178	ENSP00000323087:C178F;ENSP00000446032:C178F	ENSP00000323087:C178F	C	+	2	0	WSCD1	5932139	1.000000	0.71417	0.734000	0.30879	0.779000	0.44077	8.459000	0.90367	2.756000	0.94617	0.655000	0.94253	TGT		0.532	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		T	5991415	G	T	5991415	3	4	423	1	0	0	0	0	1	0	0	0	17406	1377	48	3	539	3	WSCD1	17	5991415	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09		5991415	75203795	45	23212											
TP53	7157	genome.wustl.edu	37	17	7577025	7577025	+	Nonsense_Mutation	SNP	T	T	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr17:7577025T>A	ENST00000269305.4	-	8	1102	c.913A>T	c.(913-915)Aag>Tag	p.K305*	TP53_ENST00000445888.2_Nonsense_Mutation_p.K305*|TP53_ENST00000455263.2_Nonsense_Mutation_p.K305*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K305*|TP53_ENST00000420246.2_Nonsense_Mutation_p.K305*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	305	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		K -> E (in a sporadic cancer; somatic mutation).|K -> M (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K305*(19)|p.0?(8)|p.?(3)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*32(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)	TTACCTCGCTTAGTGCTCCCT	0.562		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"	33	Substitution - Nonsense(19)|Whole gene deletion(8)|Unknown(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	upper_aerodigestive_tract(8)|lung(5)|urinary_tract(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|breast(2)|oesophagus(2)|large_intestine(1)|stomach(1)|liver(1)	17											118	103	108					17																	7577025		2203	4300	6503	7517750	SO:0001587	stop_gained	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.913A>T	17.37:g.7577025T>A	ENSP00000269305:p.Lys305*		7517750	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.043953	0.93685	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	5.26	0.73747	.	1.688560	0.03760	N	0.258052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.76	11.4858	0.50352	0.0:0.0:0.0:1.0	.	.	.	.	X	305;305;305;305;305;294;173	.	ENSP00000269305:K305X	K	-	1	0	TP53	7517750	1.000000	0.71417	0.901000	0.35422	0.316000	0.28119	4.679000	0.61649	2.208000	0.71279	0.459000	0.35465	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577025	T	A	7577025	4	1	423	1	0	0	0	0	0	1	0	0	16381	1763	61	5	373	5	TP53	17	7577025	Nonsense_Mutation	SNP	T	TCGA-61-1733-01A-01W-0639-09	1585610	7577025	73618185	46	23213											
DNAH9	1770	genome.wustl.edu	37	17	11672440	11672440	+	Splice_Site	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr17:11672440C>T	ENST00000262442.4	+	38	7414	c.7346C>T	c.(7345-7347)gCg>gTg	p.A2449V	DNAH9_ENST00000454412.2_Splice_Site_p.A2449V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2449	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATTCCAGGCGTGTTTGGTG	0.592																																																0			17											80	78	79					17																	11672440		2203	4300	6503	11613165	SO:0001630	splice_region_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7345-1C>T	17.37:g.11672440C>T			11613165	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464385	0.43736	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.48836	0.8;0.8	5.77	5.77	0.91146	.	0.365897	0.28296	N	0.015870	T	0.51449	0.1675	M	0.71206	2.165	0.80722	D	1	P	0.36065	0.535	B	0.33690	0.168	T	0.53627	-0.8412	10	0.46703	T	0.11	.	19.9873	0.97353	0.0:1.0:0.0:0.0	.	2449	Q9NYC9	DYH9_HUMAN	V	2449;2449;1031	ENSP00000262442:A2449V;ENSP00000414874:A2449V	ENSP00000262442:A2449V	A	+	2	0	DNAH9	11613165	0.998000	0.40836	0.961000	0.40146	0.058000	0.15608	3.744000	0.55112	2.732000	0.93576	0.655000	0.94253	GCG		0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	T	11672440	C	T	11672440	5	4	423	1	0	0	0	0	0	0	1	0	4608	782	27	1	7496	1	DNAH9	17	11672440	Splice_Site	SNP	C	TCGA-61-1733-01A-01W-0639-09	4095415	11672440	69522770	47	23214											
KRT36	8689	genome.wustl.edu	37	17	39644653	39644653	+	Splice_Site	SNP	T	T	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr17:39644653T>A	ENST00000328119.6	-	3	542		c.e3-2		KRT36_ENST00000393986.2_Splice_Site	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36						regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GTCTCATACCTGCACACACAG	0.602																																																0			17											59	51	54					17																	39644653		2203	4300	6503	36898179	SO:0001630	splice_region_variant	8689			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.543-2A>T	17.37:g.39644653T>A			36898179	Q86XG4	Splice_Site	SNP	ENST00000328119.6	37	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.634755	0.67130	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3978	0.74812	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT36	36898179	1.000000	0.71417	0.998000	0.56505	0.592000	0.36648	7.698000	0.84413	2.234000	0.73211	0.460000	0.39030	.		0.602	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771	Intron	A	39644653	T	A	39644653	5	1	423	1	0	0	0	0	0	0	1	0	8473	1594	55	5	882	5	KRT36	17	39644653	Splice_Site	SNP	T	TCGA-61-1733-01A-01W-0639-09	27972213	39644653	41550557	48	23215											
KIF18B	146909	genome.wustl.edu	37	17	43003538	43003538	+	Silent	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr17:43003538G>A	ENST00000593135.1	-	16	2566	c.2469C>T	c.(2467-2469)ccC>ccT	p.P823P	KIF18B_ENST00000587309.1_3'UTR|KIF18B_ENST00000438933.2_3'UTR|KIF18B_ENST00000339151.4_Silent_p.P826P	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	835					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TAGGGCACAGGGGACTCAAGG	0.632																																																0			17											71	78	76					17																	43003538		2094	4222	6316	40359064	SO:0001819	synonymous_variant	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2469C>T	17.37:g.43003538G>A			40359064	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	CCDS45709.2																																																																																				0.632	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		A	43003538	G	A	43003538	2	1	423	1	0	0	0	0	0	0	0	1	8281	1219	43	2		2	KIF18B	17	43003538	Silent	SNP	G	TCGA-61-1733-01A-01W-0639-09	3358885	43003538	38191672	49	23216											
ASXL3	80816	genome.wustl.edu	37	18	31319056	31319056	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr18:31319056C>T	ENST00000269197.5	+	11	1688	c.1688C>T	c.(1687-1689)aCt>aTt	p.T563I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGTCAGAAACTGCAGTAGAG	0.408																																																0			18											75	70	71					18																	31319056		1912	4140	6052	29573054	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1688C>T	18.37:g.31319056C>T	ENSP00000269197:p.Thr563Ile		29573054	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	1.474	-0.559139	0.03967	.	.	ENSG00000141431	ENST00000269197	T	0.16324	2.35	5.47	2.59	0.31030	.	1.625600	0.02974	N	0.144725	T	0.17916	0.0430	L	0.47716	1.5	0.09310	N	1	B	0.34103	0.437	B	0.27500	0.08	T	0.31888	-0.9927	10	0.41790	T	0.15	.	9.582	0.39493	0.2532:0.6801:0.0:0.0667	.	563	Q9C0F0	ASXL3_HUMAN	I	563	ENSP00000269197:T563I	ENSP00000269197:T563I	T	+	2	0	ASXL3	29573054	0.024000	0.19004	0.176000	0.23000	0.083000	0.17756	1.045000	0.30341	0.308000	0.22923	-0.444000	0.05651	ACT		0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31319056	C	T	31319056	3	4	423	1	0	0	0	0	1	0	0	0	1068	565	20	2	1730	2	ASXL3	18	31319056	Missense_Mutation	SNP	C	TCGA-61-1733-01A-01W-0639-09		31319056	46758192	50	23217											
RNF165	494470	genome.wustl.edu	37	18	44030700	44030700	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr18:44030700G>A	ENST00000269439.7	+	6	805	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	RNF165_ENST00000543885.1_Missense_Mutation_p.V60M	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	252							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GTTGGGTAATGTGACTCGGGG	0.517																																																0			18											93	78	83					18																	44030700		2203	4300	6503	42284698	SO:0001583	missense	494470			BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.754G>A	18.37:g.44030700G>A	ENSP00000269439:p.Val252Met		42284698	B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339908	0.95783	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.25085	1.87;1.82	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.41026	0.1141	M	0.71581	2.175	0.80722	D	1	P	0.46859	0.885	P	0.46362	0.514	T	0.24404	-1.0161	10	0.66056	D	0.02	-4.1565	20.5948	0.99439	0.0:0.0:1.0:0.0	.	252	Q6ZSG1	RN165_HUMAN	M	252;60	ENSP00000269439:V252M;ENSP00000444285:V60M	ENSP00000269439:V252M	V	+	1	0	RNF165	42284698	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	7.903000	0.87398	2.873000	0.98535	0.563000	0.77884	GTG		0.517	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		A	44030700	G	A	44030700	3	1	423	1	0	0	0	0	1	0	0	0	13459	1377	48	2	776	2	RNF165	18	44030700	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09	12711644	44030700	34046548	51	23218											
FAM98C	147965	genome.wustl.edu	37	19	38899447	38899447	+	Silent	SNP	C	C	G			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr19:38899447C>G	ENST00000252530.5	+	8	994	c.975C>G	c.(973-975)ccC>ccG	p.P325P	FAM98C_ENST00000343358.7_Silent_p.P243P|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	325										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGCCTCCCATGCCCACCT	0.567																																																0			19											51	57	55					19																	38899447		1833	4070	5903	43591287	SO:0001819	synonymous_variant	147965				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.975C>G	19.37:g.38899447C>G			43591287	A6NMW3|Q66K45	Silent	SNP	ENST00000252530.5	37	CCDS42562.1																																																																																				0.567	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		G	38899447	C	G	38899447	2	3	423	1	0	0	0	0	0	0	0	1	5658	581	21	3		3	FAM98C	19	38899447	Silent	SNP	C	TCGA-61-1733-01A-01W-0639-09		38899447	20229536	52	23219											
ZNF816A	125893	genome.wustl.edu	37	19	53454524	53454524	+	Silent	SNP	G	G	A			TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr19:53454524G>A	ENST00000357666.4	-	5	804	c.504C>T	c.(502-504)caC>caT	p.H168H	ZNF816_ENST00000444460.2_Silent_p.H168H|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	168					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTGAAACATGTGGAGTTCAG	0.423																																																0			19											148	159	155					19																	53454524		2203	4300	6503	58146336	SO:0001819	synonymous_variant	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.504C>T	19.37:g.53454524G>A			58146336	A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	CCDS33096.1																																																																																				0.423	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		A	53454524	G	A	53454524	2	1	423	1	0	0	0	0	0	0	0	1	18177	1368	48	2		2	ZNF816A	19	53454524	Silent	SNP	G	TCGA-61-1733-01A-01W-0639-09	14555077	53454524	5674459	53	23220											
TRMT2A	27037	genome.wustl.edu	37	22	20103847	20103847	+	Missense_Mutation	SNP	G	G	A	rs531731507		TCGA-61-1733-01A-01W-0639-09	TCGA-61-1733-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5df269f0-fa83-414a-b784-46b4a5038062	2cce7130-6bf7-4dee-9984-a5b1155c1160	g.chr22:20103847G>A	ENST00000252136.7	-	2	701	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.L105F|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.L105F|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.L105F|RANBP1_ENST00000331821.3_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	105	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TGCCCAAAGAGTTTGGTTTTG	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		18378	0		0	False		,,,				2504	0															0			22											43	46	45					22																	20103847		2203	4296	6499	18483847	SO:0001583	missense	27037			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"HpaII tiny fragments locus 9C"	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.313C>T	22.37:g.20103847G>A	ENSP00000252136:p.Leu105Phe		18483847	D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	CCDS13774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.243265|5.243265	0.95272|0.95272	.|.	.|.	ENSG00000099899|ENSG00000099901	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045|ENST00000432879	T;T;T;T;T|.	0.50001|.	3.02;3.02;3.02;3.02;0.76|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70552|0.70552	0.3237|0.3237	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.992;0.992|.	D;D;D|.	0.78314|.	0.991;0.954;0.969|.	T|T	0.66705|0.66705	-0.5856|-0.5856	10|6	0.49607|0.29301	T|T	0.09|0.29	-40.0739|-40.0739	13.6791|13.6791	0.62472|0.62472	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	105;105;105|.	B4E213;F2Z2W7;Q8IZ69|.	.;.;TRM2A_HUMAN|.	F|N	105;105;105;105;93|47	ENSP00000252136:L105F;ENSP00000385807:L105F;ENSP00000384968:L105F;ENSP00000395738:L105F;ENSP00000393911:L93F|.	ENSP00000252136:L105F|ENSP00000404724:S47N	L|S	-|+	1|2	0|0	TRMT2A|RANBP1	18483847|18483847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.847000|0.847000	0.48162|0.48162	7.291000|7.291000	0.78721|0.78721	2.697000|2.697000	0.92050|0.92050	0.491000|0.491000	0.48974|0.48974	CTC|AGT		0.617	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		A	20103847	G	A	20103847	3	1	423	1	0	0	0	0	1	0	0	0	16565	1029	36	2	1608	2	TRMT2A	22	20103847	Missense_Mutation	SNP	G	TCGA-61-1733-01A-01W-0639-09		20103847	31200719	54	23221											
AGBL4	84871	broad.mit.edu	37	1	49511278	49511278	+	Missense_Mutation	SNP	C	C	T	rs200395475	byFrequency	TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr1:49511278C>T	ENST00000371839.1	-	5	688	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	AGBL4_ENST00000371836.1_Missense_Mutation_p.R191Q|RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371838.1_Missense_Mutation_p.R191Q	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	191					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R191Q(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CAGCTGCTCCCGAAAGAAGTA	0.453													C|||	2	0.000399361	0	0	5008	,	,		15471	0.001		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	1											50	52	51					1																	49511278		1931	4140	6071	49283865	SO:0001583	missense	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.572G>A	1.37:g.49511278C>T	ENSP00000360905:p.Arg191Gln		49283865	B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	CCDS44137.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	35|35	5.548862|5.548862	0.96488|0.96488	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000416121|ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836	.|T;T;T	.|0.26660	.|2.85;2.85;1.72	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Peptidase M14, carboxypeptidase A (1);	.|0.344140	.|0.24467	.|N	.|0.038270	T|T	0.48390|0.48390	0.1497|0.1497	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.928;0.933;0.98;0.997	T|T	0.23190|0.23190	-1.0195|-1.0195	5|9	.|.	.|.	.|.	-10.2808|-10.2808	18.6038|18.6038	0.91259|0.91259	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|6;203;36;191	.|A0AVJ2;Q5VU57-2;B1AMW2;Q5VU57	.|.;.;.;CBPC6_HUMAN	R|Q	37|191;185;191;191	.|ENSP00000360905:R191Q;ENSP00000360904:R191Q;ENSP00000360902:R191Q	.|.	G|R	-|-	1|2	0|0	AGBL4|AGBL4	49283865|49283865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.431000|7.431000	0.80335|0.80335	2.640000|2.640000	0.89533|0.89533	0.563000|0.563000	0.77884|0.77884	GGG|CGG		0.453	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		T	49511278	C	T	49511278	3	4	424	1	0	0	0	0	1	0	0	0	377	652	23	1	979	1	AGBL4	1	49511278	Missense_Mutation	SNP	C	TCGA-61-1736-01B-01W-0722-08		49511278	199739343	1	23222											
ZYG11B	79699	broad.mit.edu	37	1	53267785	53267785	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr1:53267785A>T	ENST00000294353.6	+	10	1814	c.1669A>T	c.(1669-1671)Att>Ttt	p.I557F	RNU6-969P_ENST00000383900.1_RNA|ZYG11B_ENST00000443756.2_Intron|ZYG11B_ENST00000545132.1_Missense_Mutation_p.I557F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	557								p.I557F(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TGAGTCATCCATTCAGCAGAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	1											117	121	120					1																	53267785		2203	4300	6503	53040373	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1669A>T	1.37:g.53267785A>T	ENSP00000294353:p.Ile557Phe		53040373	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.577349	0.86645	.	.	ENSG00000162378	ENST00000545132;ENST00000294353	T;T	0.57907	0.37;0.37	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	M	0.79475	2.455	0.58432	D	0.999999	D	0.56287	0.975	P	0.55824	0.785	T	0.74074	-0.3782	10	0.87932	D	0	.	15.4463	0.75232	1.0:0.0:0.0:0.0	.	557	Q9C0D3	ZY11B_HUMAN	F	557	ENSP00000441315:I557F;ENSP00000294353:I557F	ENSP00000294353:I557F	I	+	1	0	ZYG11B	53040373	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.190000	0.77755	2.048000	0.60808	0.482000	0.46254	ATT		0.299	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		T	53267785	A	T	53267785	3	4	424	1	0	0	0	0	1	0	0	0	18253	217	8	5	1707	5	ZYG11B	1	53267785	Missense_Mutation	SNP	A	TCGA-61-1736-01B-01W-0722-08	3756507	53267785	195982836	2	23223											
INADL	10207	broad.mit.edu	37	1	62228765	62228765	+	Silent	SNP	T	T	C			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr1:62228765T>C	ENST00000371158.2	+	3	217	c.103T>C	c.(103-105)Tta>Cta	p.L35L	INADL_ENST00000316485.6_Silent_p.L35L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	35	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.L35L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAATGAGAAGTTATCTATGTT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	1											91	82	85					1																	62228765		2203	4300	6503	62001353	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.103T>C	1.37:g.62228765T>C			62001353	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.433	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		C	62228765	T	C	62228765	2	2	424	1	0	0	0	0	0	0	0	1	7731	1722	60	4		4	INADL	1	62228765	Silent	SNP	T	TCGA-61-1736-01B-01W-0722-08	8960980	62228765	187021856	3	23224											
UAP1	6675	broad.mit.edu	37	1	162546747	162546747	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr1:162546747A>G	ENST00000367925.1	+	2	493	c.461A>G	c.(460-462)tAt>tGt	p.Y154C	UAP1_ENST00000271469.3_Missense_Mutation_p.Y154C|UAP1_ENST00000367924.1_Missense_Mutation_p.Y154C|UAP1_ENST00000367926.4_Missense_Mutation_p.Y154C			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	154					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.Y154C(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAAAAATATTATGGCAACAAA	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											93	84	87					1																	162546747		2203	4300	6503	160813371	SO:0001583	missense	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.461A>G	1.37:g.162546747A>G	ENSP00000356902:p.Tyr154Cys		160813371	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37		.	.	.	.	.	.	.	.	.	.	A	14.20	2.463397	0.43736	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.13	2.64	0.31445	.	0.267778	0.42821	D	0.000653	T	0.07007	0.0178	N	0.12887	0.27	0.25211	N	0.989971	B	0.02656	0.0	B	0.04013	0.001	T	0.16719	-1.0393	9	0.36615	T	0.2	-5.5673	5.9987	0.19509	0.7729:0.0:0.0817:0.1454	.	154	Q16222-2	.	C	154	ENSP00000395648:Y154C;ENSP00000356903:Y154C;ENSP00000271469:Y154C;ENSP00000356902:Y154C;ENSP00000356901:Y154C	ENSP00000271469:Y154C	Y	+	2	0	UAP1	160813371	0.976000	0.34144	0.114000	0.21550	0.745000	0.42441	4.487000	0.60293	0.906000	0.36621	0.482000	0.46254	TAT		0.353	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		G	162546747	A	G	162546747	3	3	424	1	0	0	0	0	1	0	0	0	16825	449	16	4	467	4	UAP1	1	162546747	Missense_Mutation	SNP	A	TCGA-61-1736-01B-01W-0722-08	100317982	162546747	86703874	4	23225											
PCDHA3	56145	broad.mit.edu	37	5	140182630	140182630	+	Silent	SNP	C	C	T			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr5:140182630C>T	ENST00000522353.2	+	1	1848	c.1848C>T	c.(1846-1848)ggC>ggT	p.G616G	PCDHA3_ENST00000532566.2_Silent_p.G616G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G616G(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGACCGGCGGTGCGCGCA	0.677																																																1	Substitution - coding silent(1)	ovary(1)	5											79	79	79					5																	140182630		2203	4300	6503	140162814	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1848C>T	5.37:g.140182630C>T			140162814	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																				0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		T	140182630	C	T	140182630	2	4	424	1	0	0	0	0	0	0	0	1	11525	755	27	1		1	PCDHA3	5	140182630	Silent	SNP	C	TCGA-61-1736-01B-01W-0722-08		140182630	40732630	5	23226											
PCDHB7	56129	broad.mit.edu	37	5	140553042	140553042	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr5:140553042G>A	ENST00000231137.3	+	1	800	c.626G>A	c.(625-627)aGt>aAt	p.S209N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S209N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGAGTTCAGTTTAACCCTC	0.502																																																1	Substitution - Missense(1)	ovary(1)	5											73	71	72					5																	140553042		2203	4300	6503	140533226	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.626G>A	5.37:g.140553042G>A	ENSP00000231137:p.Ser209Asn		140533226	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.316588	0.01331	.	.	ENSG00000113212	ENST00000231137	T	0.03065	4.06	4.61	0.952	0.19584	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03011	0.0089	N	0.26042	0.785	0.09310	N	1	B	0.12013	0.005	B	0.18561	0.022	T	0.43327	-0.9398	9	0.42905	T	0.14	.	5.7995	0.18406	0.2369:0.2094:0.5536:0.0	.	209	Q9Y5E2	PCDB7_HUMAN	N	209	ENSP00000231137:S209N	ENSP00000231137:S209N	S	+	2	0	PCDHB7	140533226	0.000000	0.05858	0.976000	0.42696	0.030000	0.12068	-0.588000	0.05774	0.359000	0.24239	0.655000	0.94253	AGT		0.502	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140553042	G	A	140553042	3	1	424	1	0	0	0	0	1	0	0	0	11547	1029	36	2	628	2	PCDHB7	5	140553042	Missense_Mutation	SNP	G	TCGA-61-1736-01B-01W-0722-08	370412	140553042	40362218	6	23227											
CREB3L2	64764	broad.mit.edu	37	7	137569784	137569784	+	Silent	SNP	C	C	T			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr7:137569784C>T	ENST00000330387.6	-	10	1578	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	CREB3L2_ENST00000456390.1_Silent_p.L409L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	409					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|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 positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.L409L(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCTGGCTGGGCAGAGCCATCT	0.562			T	FUS	fibromyxoid sarcoma																																		Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	1	Substitution - coding silent(1)	ovary(1)	7											81	75	77					7																	137569784		2203	4300	6503	137220324	SO:0001819	synonymous_variant	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1227G>A	7.37:g.137569784C>T			137220324	Q6P454|Q6ZMR6	Silent	SNP	ENST00000330387.6	37	CCDS34760.1																																																																																				0.562	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		T	137569784	C	T	137569784	2	4	424	1	0	0	0	0	0	0	0	1	3857	697	25	2		2	CREB3L2	7	137569784	Silent	SNP	C	TCGA-61-1736-01B-01W-0722-08		137569784	21568879	7	23228											
MMP16	4325	broad.mit.edu	37	8	89053814	89053814	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr8:89053814T>C	ENST00000286614.6	-	10	1980	c.1699A>G	c.(1699-1701)Att>Gtt	p.I567V		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	567					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I567V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGAATGACAATAGCTATGGCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	8											297	231	253					8																	89053814		2203	4300	6503	89122930	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1699A>G	8.37:g.89053814T>C	ENSP00000286614:p.Ile567Val		89122930	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	3.904	-0.021459	0.07634	.	.	ENSG00000156103	ENST00000286614	T	0.19105	2.17	5.72	5.72	0.89469	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	N	0.20530	0.585	0.58432	D	0.999999	B	0.12630	0.006	B	0.18871	0.023	T	0.05386	-1.0888	10	0.02654	T	1	.	15.9899	0.80197	0.0:0.0:0.0:1.0	.	567	P51512	MMP16_HUMAN	V	567	ENSP00000286614:I567V	ENSP00000286614:I567V	I	-	1	0	MMP16	89122930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.286000	0.72665	2.168000	0.68352	0.533000	0.62120	ATT		0.463	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		C	89053814	T	C	89053814	3	2	424	1	0	0	0	0	1	0	0	0	9655	1406	49	4	128	4	MMP16	8	89053814	Missense_Mutation	SNP	T	TCGA-61-1736-01B-01W-0722-08		89053814	57310208	8	23229											
PDCD4	27250	broad.mit.edu	37	10	112641175	112641175	+	Silent	SNP	G	G	T	rs372715017	byFrequency	TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr10:112641175G>T	ENST00000280154.7	+	3	502	c.228G>T	c.(226-228)tcG>tcT	p.S76S	PDCD4_ENST00000393104.2_Silent_p.S65S	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	76					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.S76S(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GAGGCGATTCGGTCAGCGACA	0.498																																					Ovarian(115;1498 1603 9363 40056 40885)											1	Substitution - coding silent(1)	ovary(1)	10											92	99	97					10																	112641175		2203	4300	6503	112631165	SO:0001819	synonymous_variant	27250			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.228G>T	10.37:g.112641175G>T			112631165	B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Silent	SNP	ENST00000280154.7	37	CCDS7567.1																																																																																				0.498	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		T	112641175	G	T	112641175	2	4	424	1	0	0	0	0	0	0	0	1	11621	1103	39	3		3	PDCD4	10	112641175	Silent	SNP	G	TCGA-61-1736-01B-01W-0722-08		112641175	22893572	9	23230											
OR51T1	401665	broad.mit.edu	37	11	4903555	4903555	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr11:4903555G>A	ENST00000322049.1	+	1	426	c.426G>A	c.(424-426)atG>atA	p.M142I	OR51T1_ENST00000380378.1_Missense_Mutation_p.M169I|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M142I(1)|p.M169I(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACAGGATGGTCCTGGTGA	0.512																																																2	Substitution - Missense(2)	ovary(2)	11											156	136	143					11																	4903555		2201	4298	6499	4860131	SO:0001583	missense	401665			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.426G>A	11.37:g.4903555G>A	ENSP00000322679:p.Met142Ile		4860131	Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37		.	.	.	.	.	.	.	.	.	.	G	0.175	-1.067281	0.01934	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.36520	1.25;1.25	4.68	-2.25	0.06888	GPCR, rhodopsin-like superfamily (1);	0.745901	0.11988	N	0.510130	T	0.12689	0.0308	N	0.04787	-0.16	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.21895	-1.0232	10	0.22706	T	0.39	.	1.7882	0.03046	0.2606:0.2987:0.3276:0.113	.	142	Q8NGJ9	O51T1_HUMAN	I	169;142	ENSP00000369738:M169I;ENSP00000322679:M142I	ENSP00000322679:M142I	M	+	3	0	OR51T1	4860131	0.000000	0.05858	0.043000	0.18650	0.008000	0.06430	-1.396000	0.02513	-0.218000	0.10018	0.484000	0.47621	ATG		0.512	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		A	4903555	G	A	4903555	3	1	424	1	0	0	0	0	1	0	0	0	11106	1348	47	2	509	2	OR51T1	11	4903555	Missense_Mutation	SNP	G	TCGA-61-1736-01B-01W-0722-08		4903555	130102961	10	23231											
NADSYN1	55191	broad.mit.edu	37	11	71201976	71201976	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr11:71201976T>A	ENST00000319023.2	+	17	1836	c.1648T>A	c.(1648-1650)Ttc>Atc	p.F550I	NADSYN1_ENST00000539574.1_Missense_Mutation_p.F290I|NADSYN1_ENST00000530055.1_Missense_Mutation_p.F179I	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	550	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.F550I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCTCAGGGCCTTCGTCCAGTT	0.632																																					Ovarian(79;763 1781 6490 50276)											1	Substitution - Missense(1)	ovary(1)	11											170	124	139					11																	71201976		2200	4294	6494	70879624	SO:0001583	missense	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1648T>A	11.37:g.71201976T>A	ENSP00000326424:p.Phe550Ile		70879624	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	.	18.24	3.580964	0.65992	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.38401	1.14;1.14;1.14	4.79	4.79	0.61399	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.97110	0.968;1.0	T	0.63422	-0.6641	10	0.72032	D	0.01	-34.7443	12.2903	0.54815	0.0:0.0:0.0:1.0	.	290;550	B3KUU4;Q6IA69	.;NADE_HUMAN	I	550;290;179	ENSP00000326424:F550I;ENSP00000443718:F290I;ENSP00000431820:F179I	ENSP00000326424:F550I	F	+	1	0	NADSYN1	70879624	1.000000	0.71417	0.749000	0.31150	0.009000	0.06853	6.974000	0.76122	1.797000	0.52628	0.459000	0.35465	TTC		0.632	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		A	71201976	T	A	71201976	3	1	424	1	0	0	0	0	1	0	0	0	10138	1609	56	5	1714	5	NADSYN1	11	71201976	Missense_Mutation	SNP	T	TCGA-61-1736-01B-01W-0722-08	66298421	71201976	63804540	11	23232											
ACSM4	341392	broad.mit.edu	37	12	7457110	7457110	+	Silent	SNP	G	G	A			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr12:7457110G>A	ENST00000399422.4	+	1	231	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	61					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TGCTGGACCAGTGGTCCCAAA	0.473																																																0			12											92	88	89					12																	7457110		1978	4158	6136	7348377	SO:0001819	synonymous_variant	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.183G>A	12.37:g.7457110G>A			7348377	A8MTI6	Silent	SNP	ENST00000399422.4	37	CCDS44825.1																																																																																				0.473	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		A	7457110	G	A	7457110	2	1	424	1	0	0	0	0	0	0	0	1	186	1020	36	2		2	ACSM4	12	7457110	Silent	SNP	G	TCGA-61-1736-01B-01W-0722-08		7457110	126394785	12	23233											
SOX5	6660	broad.mit.edu	37	12	23716277	23716277	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr12:23716277T>G	ENST00000451604.2	-	11	1504	c.1403A>C	c.(1402-1404)gAg>gCg	p.E468A	SOX5_ENST00000309359.1_Missense_Mutation_p.E455A|SOX5_ENST00000546136.1_Missense_Mutation_p.E455A|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.E433A|SOX5_ENST00000545921.1_Missense_Mutation_p.E458A|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.E82A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	468					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E468A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCGGAGTTGCTCCTTCATTTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	12											180	154	163					12																	23716277		2203	4300	6503	23607544	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1403A>C	12.37:g.23716277T>G	ENSP00000398273:p.Glu468Ala		23607544	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488545	0.84854	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.77820	2.39	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.77557	0.99;0.978;0.987	T	0.63959	-0.6519	10	0.49607	T	0.09	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	433;468;82	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	A	455;455;468;420;433;82;458	ENSP00000437487:E455A;ENSP00000308927:E455A;ENSP00000398273:E468A;ENSP00000439832:E433A;ENSP00000379328:E82A;ENSP00000443520:E458A	ENSP00000308927:E455A	E	-	2	0	SOX5	23607544	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	7.684000	0.84104	2.270000	0.75569	0.482000	0.46254	GAG		0.428	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		G	23716277	T	G	23716277	3	3	424	1	0	0	0	0	1	0	0	0	14957	1551	54	5	908	5	SOX5	12	23716277	Missense_Mutation	SNP	T	TCGA-61-1736-01B-01W-0722-08	16259167	23716277	110135618	13	23234											
TBX3	6926	broad.mit.edu	37	12	115114271	115114271	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr12:115114271G>C	ENST00000257566.3	-	6	1335	c.946C>G	c.(946-948)Cag>Gag	p.Q316E	TBX3_ENST00000349155.2_Missense_Mutation_p.Q296E	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	316					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q316E(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGGGTGAGCTGTTTTCTGTGG	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											109	100	103					12																	115114271		2203	4300	6503	113598654	SO:0001583	missense	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.946C>G	12.37:g.115114271G>C	ENSP00000257566:p.Gln316Glu		113598654	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706661	0.89018	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88586	-2.4;-2.39	5.11	5.11	0.69529	.	0.436911	0.26605	N	0.023441	D	0.93812	0.8021	M	0.76838	2.35	0.80722	D	1	D;D	0.63046	0.992;0.969	P;D	0.64877	0.888;0.93	D	0.93324	0.6695	10	0.40728	T	0.16	.	17.516	0.87773	0.0:0.0:1.0:0.0	.	296;316	O15119-2;O15119	.;TBX3_HUMAN	E	296;316;316	ENSP00000257567:Q296E;ENSP00000257566:Q316E	ENSP00000257566:Q316E	Q	-	1	0	TBX3	113598654	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.188000	0.94921	2.363000	0.80096	0.655000	0.94253	CAG		0.478	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		C	115114271	G	C	115114271	3	2	424	1	0	0	0	0	1	0	0	0	15659	1386	48	3	1297	3	TBX3	12	115114271	Missense_Mutation	SNP	G	TCGA-61-1736-01B-01W-0722-08	91397994	115114271	18737624	14	23235											
COL4A1	1282	broad.mit.edu	37	13	110831691	110831691	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr13:110831691C>G	ENST00000375820.4	-	30	2392	c.2271G>C	c.(2269-2271)aaG>aaC	p.K757N		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	757	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.K757N(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAATGCTCCCCTTCTCCCCGG	0.587																																																1	Substitution - Missense(1)	ovary(1)	13											78	81	80					13																	110831691		2203	4300	6503	109629692	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2271G>C	13.37:g.110831691C>G	ENSP00000364979:p.Lys757Asn		109629692	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578559	0.46006	.	.	ENSG00000187498	ENST00000375820	D	0.93547	-3.24	4.7	1.99	0.26369	.	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91544	0.5252	10	0.49607	T	0.09	.	5.4805	0.16721	0.1283:0.5376:0.0:0.3341	.	757	P02462	CO4A1_HUMAN	N	757	ENSP00000364979:K757N	ENSP00000364979:K757N	K	-	3	2	COL4A1	109629692	0.979000	0.34478	0.989000	0.46669	0.386000	0.30323	0.183000	0.16919	0.155000	0.19261	0.655000	0.94253	AAG		0.587	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			G	110831691	C	G	110831691	3	3	424	1	0	0	0	0	1	0	0	0	3689	680	24	3	2830	3	COL4A1	13	110831691	Missense_Mutation	SNP	C	TCGA-61-1736-01B-01W-0722-08		110831691	4338187	15	23236											
SSTR1	6751	broad.mit.edu	37	14	38679480	38679480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	T	T	-	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr14:38679480delT	ENST00000267377.2	+	3	1503	c.886delT	c.(886-888)tttfs	p.F296fs		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	296					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.F296fs*9(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GGTCAACGTGTTTGCTGAGCA	0.552																																																1	Deletion - Frameshift(1)	ovary(1)	14											145	124	131					14																	38679480		2203	4300	6503	37749231	SO:0001589	frameshift_variant	6751				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.886delT	14.37:g.38679480delT	ENSP00000267377:p.Phe296fs		37749231		Frame_Shift_Del	DEL	ENST00000267377.2	37	CCDS9666.1																																																																																				0.552	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			-	38679480	T	-	38679480	7	5	424	1	0	1	0	1	0	0	0	0	15199	1725	60	0	888	0	SSTR1	14	38679480	Frame_Shift_Del	DEL	T	TCGA-61-1736-01B-01W-0722-08		38679480	68670060	16	23237											
SLC25A29	123096	broad.mit.edu	37	14	100759630	100759630	+	Splice_Site	SNP	C	C	A			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr14:100759630C>A	ENST00000359232.3	-	3	463		c.e3+1		AL157871.2_ENST00000553954.1_RNA|SLC25A29_ENST00000555927.1_Splice_Site|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000539621.1_Splice_Site|SLC25A29_ENST00000554912.1_Splice_Site|SLC25A29_ENST00000392908.3_Splice_Site|SLC25A29_ENST00000556505.1_Splice_Site	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29							integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)	p.?(1)		NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	AGGCCACTCACGCTCTCTTGC	0.622																																																1	Unknown(1)	ovary(1)	14											66	43	50					14																	100759630		2202	4300	6502	99829383	SO:0001630	splice_region_variant	123096			AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"Solute carriers"	20116	protein-coding gene	gene with protein product		615064	"chromosome 14 open reading frame 69", "solute carrier family 25, member 29"	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.162+1G>T	14.37:g.100759630C>A			99829383	A3KMR5|Q541V0	Splice_Site	SNP	ENST00000359232.3	37	CCDS32156.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845929	0.32606	.	.	ENSG00000197119	ENST00000359232;ENST00000392908;ENST00000554060	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.665	0.85250	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A29	99829383	1.000000	0.71417	0.980000	0.43619	0.095000	0.18619	7.188000	0.77739	1.932000	0.55993	0.467000	0.42956	.		0.622	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3		Intron	A	100759630	C	A	100759630	5	1	424	1	0	0	0	0	0	0	1	0	14495	550	19	3	756	3	SLC25A29	14	100759630	Splice_Site	SNP	C	TCGA-61-1736-01B-01W-0722-08	62080150	100759630	6589910	17	23238											
HERC2	8924	broad.mit.edu	37	15	28408371	28408371	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr15:28408371T>A	ENST00000261609.7	-	69	10723	c.10615A>T	c.(10615-10617)Agt>Tgt	p.S3539C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S3539C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCAGCAGACTGGTGAACTCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	15											126	113	117					15																	28408371		2203	4300	6503	26081966	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10615A>T	15.37:g.28408371T>A	ENSP00000261609:p.Ser3539Cys		26081966		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652575	0.47362	.	.	ENSG00000128731	ENST00000261609	T	0.40756	1.02	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	N	0.22421	0.69	0.58432	D	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.07404	-1.0774	10	0.41790	T	0.15	.	10.5237	0.44934	0.0:0.0761:0.0:0.9239	.	3539	O95714	HERC2_HUMAN	C	3539	ENSP00000261609:S3539C	ENSP00000261609:S3539C	S	-	1	0	HERC2	26081966	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	4.084000	0.57650	2.063000	0.61619	0.533000	0.62120	AGT		0.537	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28408371	T	A	28408371	3	1	424	1	0	0	0	0	1	0	0	0	7058	1580	55	5	3989	5	HERC2	15	28408371	Missense_Mutation	SNP	T	TCGA-61-1736-01B-01W-0722-08		28408371	74123021	18	23239											
CASC4	113201	broad.mit.edu	37	15	44673004	44673004	+	Splice_Site	SNP	A	A	G			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr15:44673004A>G	ENST00000345795.2	+	8	1172	c.902A>G	c.(901-903)gAt>gGt	p.D301G	CASC4_ENST00000299957.6_Splice_Site_p.D301G|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	301						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D301G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TATGCCACAGATTCACACATA	0.348																																																1	Substitution - Missense(1)	ovary(1)	15											48	47	47					15																	44673004		2198	4298	6496	42460296	SO:0001630	splice_region_variant	113201			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.902-1A>G	15.37:g.44673004A>G			42460296	B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	A	6.468	0.454472	0.12283	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.68	1.01	0.19927	.	0.638794	0.14759	N	0.300084	T	0.27098	0.0664	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12630	0.001;0.001;0.006	B;B;B	0.09377	0.001;0.0;0.004	T	0.06215	-1.0839	8	.	.	.	.	3.3446	0.07131	0.5633:0.2084:0.2284:0.0	.	301;301;301	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	G	301;301;280	.	.	D	+	2	0	CASC4	42460296	0.998000	0.40836	0.995000	0.50966	0.350000	0.29205	0.308000	0.19314	0.162000	0.19483	0.397000	0.26171	GAT		0.348	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423	Missense_Mutation	G	44673004	A	G	44673004	5	3	424	1	0	0	0	0	0	0	1	0	2662	347	12	4	932	4	CASC4	15	44673004	Splice_Site	SNP	A	TCGA-61-1736-01B-01W-0722-08	16264633	44673004	57858388	19	23240											
PDP2	57546	broad.mit.edu	37	16	66919156	66919156	+	Silent	SNP	G	G	A			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr16:66919156G>A	ENST00000311765.2	+	2	1303	c.969G>A	c.(967-969)gaG>gaA	p.E323E	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	323					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.E323E(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TAAAGAGGGAGCACCCTGAGT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	16											73	69	70					16																	66919156		2200	4300	6500	65476657	SO:0001819	synonymous_variant	57546			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.969G>A	16.37:g.66919156G>A			65476657	A8K924	Silent	SNP	ENST00000311765.2	37	CCDS10822.1																																																																																				0.577	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		A	66919156	G	A	66919156	2	1	424	1	0	0	0	0	0	0	0	1	11686	962	34	2		2	PDP2	16	66919156	Silent	SNP	G	TCGA-61-1736-01B-01W-0722-08		66919156	23435597	20	23241											
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	G	rs28934575|rs397516437		TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr17:7577548C>G	ENST00000269305.4	-	7	922	c.733G>C	c.(733-735)Ggc>Cgc	p.G245R	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G245R|TP53_ENST00000455263.2_Missense_Mutation_p.G245R|TP53_ENST00000359597.4_Missense_Mutation_p.G245R|TP53_ENST00000413465.2_Missense_Mutation_p.G245R|TP53_ENST00000420246.2_Missense_Mutation_p.G245R	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	17	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575						149	112	125					17																	7577548		2203	4300	6503	7518273	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.733G>C	17.37:g.7577548C>G	ENSP00000269305:p.Gly245Arg		7518273	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664558	0.88251	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;0.996;1.0	D;D;D;D;D;D	0.97110	0.988;1.0;1.0;0.993;0.993;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245R;ENSP00000352610:G245R;ENSP00000269305:G245R;ENSP00000398846:G245R;ENSP00000391127:G245R;ENSP00000391478:G245R;ENSP00000425104:G113R;ENSP00000423862:G152R	ENSP00000269305:G245R	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577548	C	G	7577548	3	3	424	1	0	0	0	0	1	0	0	0	16381	652	23	3	557	3	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-61-1736-01B-01W-0722-08		7577548	73617662	21	23242											
MOV10L1	54456	broad.mit.edu	37	22	50555736	50555736	+	Silent	SNP	G	G	A			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chr22:50555736G>A	ENST00000262794.5	+	9	1493	c.1410G>A	c.(1408-1410)gcG>gcA	p.A470A	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.A470A|MOV10L1_ENST00000395858.3_Silent_p.A470A|MOV10L1_ENST00000540615.1_Silent_p.A450A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	470					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.A470A(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTCACAAGCGTTAACATCCG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	22											64	60	61					22																	50555736		2203	4300	6503	48897863	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1410G>A	22.37:g.50555736G>A			48897863	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	CCDS14084.1																																																																																				0.423	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		A	50555736	G	A	50555736	2	1	424	1	0	0	0	0	0	0	0	1	9719	1132	40	1		1	MOV10L1	22	50555736	Silent	SNP	G	TCGA-61-1736-01B-01W-0722-08		50555736	748830	22	23243											
SLC6A14	11254	broad.mit.edu	37	X	115582751	115582751	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chrX:115582751G>T	ENST00000371900.4	+	8	1163	c.1075G>T	c.(1075-1077)Gtg>Ttg	p.V359L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	359					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V359L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCTCACTAGCGTGTTTGCTGG	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											173	155	161					X																	115582751		2203	4300	6503	115496779	SO:0001583	missense	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1075G>T	X.37:g.115582751G>T	ENSP00000360967:p.Val359Leu		115496779	Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941620	0.73557	.	.	ENSG00000087916	ENST00000371900	T	0.75050	-0.9	5.43	5.43	0.79202	.	0.057776	0.64402	D	0.000002	T	0.58438	0.2122	N	0.11131	0.1	0.41420	D	0.987796	P	0.40731	0.728	B	0.40228	0.323	T	0.61242	-0.7102	10	0.27082	T	0.32	.	15.4779	0.75501	0.0:0.0:1.0:0.0	.	359	Q9UN76	S6A14_HUMAN	L	359	ENSP00000360967:V359L	ENSP00000360967:V359L	V	+	1	0	SLC6A14	115496779	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.034000	0.49751	2.248000	0.74166	0.538000	0.68166	GTG		0.373	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			T	115582751	G	T	115582751	3	4	424	1	0	0	0	0	1	0	0	0	14680	1145	40	3	1105	3	SLC6A14	23	115582751	Missense_Mutation	SNP	G	TCGA-61-1736-01B-01W-0722-08		115582751	39687809	23	23244											
ODZ1	10178	broad.mit.edu	37	X	123787438	123787438	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1736-01B-01W-0722-08	TCGA-61-1736-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	cbb3722c-39a1-4723-aaab-9a70a670fa54	8f030058-0672-4e55-9c1e-b8b9e1443440	g.chrX:123787438G>T	ENST00000371130.3	-	7	1427	c.1364C>A	c.(1363-1365)aCt>aAt	p.T455N	TENM1_ENST00000422452.2_Missense_Mutation_p.T455N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	455					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T457N(1)									AAATACCTGAGTATGTGTAGG	0.363																																																1	Substitution - Missense(1)	ovary(1)	X											99	97	98					X																	123787438		2203	4300	6503	123615119	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1364C>A	X.37:g.123787438G>T	ENSP00000360171:p.Thr455Asn		123615119	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475272	0.84640	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.31510	1.49;1.49	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.997	T	0.63800	-0.6555	10	0.87932	D	0	.	19.0086	0.92863	0.0:0.0:1.0:0.0	.	454;455;455	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	455	ENSP00000360171:T455N;ENSP00000403954:T455N	ENSP00000360171:T455N	T	-	2	0	ODZ1	123615119	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	9.869000	0.99810	2.437000	0.82529	0.523000	0.50628	ACT		0.363	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123787438	G	T	123787438	3	4	424	1	0	0	0	0	1	0	0	0	10834	1029	36	3	6938	3	ODZ1	23	123787438	Missense_Mutation	SNP	G	TCGA-61-1736-01B-01W-0722-08	8204687	123787438	31483122	24	23245											
PIK3CD	5293	genome.wustl.edu	37	1	9780222	9780222	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:9780222C>A	ENST00000377346.4	+	11	1587	c.1392C>A	c.(1390-1392)aaC>aaA	p.N464K	PIK3CD_ENST00000543390.1_Missense_Mutation_p.N131K|PIK3CD_ENST00000361110.2_Missense_Mutation_p.N429K|PIK3CD_ENST00000536656.1_Missense_Mutation_p.N429K	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	464	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GTAACCCCAACACGGATAGCG	0.657																																																0			1											57	55	56					1																	9780222		2203	4300	6503	9702809	SO:0001583	missense	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1392C>A	1.37:g.9780222C>A	ENSP00000366563:p.Asn464Lys		9702809	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940959	0.52972	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.54	4.63	0.57726	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	M	0.80183	2.485	0.51767	D	0.999932	P;D;D	0.64830	0.902;0.994;0.988	P;D;D	0.70935	0.733;0.971;0.947	T	0.81714	-0.0807	10	0.25751	T	0.34	-56.5584	14.3267	0.66526	0.0:0.9286:0.0:0.0714	.	464;429;464	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	K	429;464;429;429;131	ENSP00000446444:N429K;ENSP00000366563:N464K;ENSP00000354410:N429K;ENSP00000443811:N131K	ENSP00000353766:N429K	N	+	3	2	PIK3CD	9702809	1.000000	0.71417	0.995000	0.50966	0.036000	0.12997	3.269000	0.51592	1.358000	0.45922	0.462000	0.41574	AAC		0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		A	9780222	C	A	9780222	3	1	425	1	0	0	0	0	1	0	0	0	11915	477	17	3	1426	3	PIK3CD	1	9780222	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09		9780222	239470399	1	23246											
PRAMEF1	65121	genome.wustl.edu	37	1	12855690	12855690	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:12855690C>T	ENST00000332296.7	+	4	1073	c.970C>T	c.(970-972)Cat>Tat	p.H324Y	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.H79Y	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	324					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTACCTAAAGCATCTGAATCT	0.493																																																0			1											71	78	76					1																	12855690		2201	4297	6498	12778277	SO:0001583	missense	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.970C>T	1.37:g.12855690C>T	ENSP00000332134:p.His324Tyr		12778277	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	6.367	0.435823	0.12104	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.10960	2.82;2.82	1.56	-0.557	0.11800	.	1.591000	0.03323	N	0.192165	T	0.11580	0.0282	L	0.56396	1.775	0.09310	N	1	P	0.35208	0.49	B	0.33750	0.169	T	0.25606	-1.0127	10	0.36615	T	0.2	.	3.4545	0.07510	0.2704:0.4218:0.3079:0.0	.	324	O95521	PRAM1_HUMAN	Y	324;79	ENSP00000332134:H324Y;ENSP00000383616:H79Y	ENSP00000332134:H324Y	H	+	1	0	PRAMEF1	12778277	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.724000	0.04947	-0.163000	0.10946	0.205000	0.17691	CAT		0.493	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		T	12855690	C	T	12855690	3	4	425	1	0	0	0	0	1	0	0	0	12428	710	25	2	980	2	PRAMEF1	1	12855690	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	3075468	12855690	236394931	2	23247											
MPL	4352	genome.wustl.edu	37	1	43803899	43803899	+	Missense_Mutation	SNP	C	C	T	rs61754776	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:43803899C>T	ENST00000372470.3	+	2	251	c.209C>T	c.(208-210)cCg>cTg	p.P70L	MPL_ENST00000413998.2_Missense_Mutation_p.P70L	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	70					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TATGCCTACCCGCGGTAGGTG	0.587			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						C|||	4	0.000798722	0	0	5008	,	,		18093	0.004		0	False		,,,				2504	0				NSCLC(52;534 1204 10016 41452 44427)	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	L	0			1						C	LEU/PRO	0,4406		0,0,2203	76	71	73		209	2.6	0.9	1	dbSNP_129	73	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MPL	NM_005373.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	70/636	43803899	2,13004	2203	4300	6503	43576486	SO:0001583	missense	4352			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.209C>T	1.37:g.43803899C>T	ENSP00000361548:p.Pro70Leu		43576486	Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	CCDS483.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786151	0.31593	0.0	2.33E-4	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	T;T	0.67865	-0.29;-0.29	5.61	2.63	0.31362	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.964622	0.08696	N	0.907222	T	0.58750	0.2144	L	0.57536	1.79	0.30216	N	0.797241	B;P;P	0.46142	0.375;0.484;0.873	B;B;B	0.35655	0.137;0.129;0.207	T	0.52845	-0.8521	10	0.38643	T	0.18	0.0712	9.6483	0.39881	0.1492:0.5626:0.2882:0.0	rs61754776	63;70;70	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	L	70	ENSP00000361548:P70L;ENSP00000414004:P70L	ENSP00000361546:P70L	P	+	2	0	MPL	43576486	0.172000	0.23043	0.908000	0.35775	0.965000	0.64279	0.108000	0.15396	0.366000	0.24427	-0.158000	0.13435	CCG		0.587	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		T	43803899	C	T	43803899	3	4	425	1	0	0	0	0	1	0	0	0	9730	652	23	1	215	1	MPL	1	43803899	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	30948209	43803899	205446722	3	23248											
RAD54L	8438	genome.wustl.edu	37	1	46733195	46733195	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:46733195G>A	ENST00000371975.4	+	9	1630	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.R319Q	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	319	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AACACCAGCCGGCGGGTGCTC	0.493								Direct reversal of damage;Homologous recombination																																								0			1											82	81	81					1																	46733195		2203	4300	6503	46505782	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.956G>A	1.37:g.46733195G>A	ENSP00000361043:p.Arg319Gln		46505782	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	36	5.886987	0.97068	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93019	-3.15;-3.15	5.34	5.34	0.76211	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.983;0.997	D	0.97649	1.0153	10	0.87932	D	0	-14.8197	19.0329	0.92965	0.0:0.0:1.0:0.0	.	139;319	G3V1N0;Q92698	.;RAD54_HUMAN	Q	319;319;139	ENSP00000396113:R319Q;ENSP00000361043:R319Q	ENSP00000361043:R319Q	R	+	2	0	RAD54L	46505782	1.000000	0.71417	0.996000	0.52242	0.886000	0.51366	9.524000	0.98036	2.486000	0.83907	0.561000	0.74099	CGG		0.493	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		A	46733195	G	A	46733195	3	1	425	1	0	0	0	0	1	0	0	0	12996	1116	39	1	990	1	RAD54L	1	46733195	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	2929296	46733195	202517426	4	23249											
CYP4A22	284541	genome.wustl.edu	37	1	47603299	47603299	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:47603299C>T	ENST00000371891.3	+	1	173	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.L48F|CYP4A22_ENST00000294337.3_Missense_Mutation_p.L48F|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	48						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTCAAAGCCCTCCAGCAGTT	0.617																																					Pancreas(88;1240 1470 2099 14214 37557)											0			1											74	61	65					1																	47603299		2203	4300	6503	47375886	SO:0001583	missense	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.142C>T	1.37:g.47603299C>T	ENSP00000360958:p.Leu48Phe		47375886	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	4.817	0.151872	0.09185	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.74947	-0.89;-0.58;-0.58	2.47	-3.13	0.05266	.	2.341500	0.01858	N	0.036453	T	0.60405	0.2266	L	0.39397	1.21	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.002;0.004	T	0.30297	-0.9983	10	0.33940	T	0.23	.	1.0741	0.01628	0.1523:0.3114:0.1514:0.385	.	48;48	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	F	48	ENSP00000360957:L48F;ENSP00000360958:L48F;ENSP00000294337:L48F	ENSP00000294337:L48F	L	+	1	0	CYP4A22	47375886	0.000000	0.05858	0.393000	0.26258	0.638000	0.38207	-2.159000	0.01280	-0.251000	0.09542	0.205000	0.17691	CTC		0.617	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		T	47603299	C	T	47603299	3	4	425	1	0	0	0	0	1	0	0	0	4184	681	24	2	144	2	CYP4A22	1	47603299	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	870104	47603299	201647322	5	23250											
CD2	914	genome.wustl.edu	37	1	117311361	117311361	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:117311361C>T	ENST00000369478.3	+	5	1120	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	338	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GCCAAAACCTCCCCATGGGGC	0.517																																					NSCLC(14;263 555 26380 43512 51332)											0			1											71	80	77					1																	117311361		2203	4300	6503	117112884	SO:0001583	missense	914			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.1012C>T	1.37:g.117311361C>T	ENSP00000358490:p.Pro338Ser		117112884	Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	CCDS889.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061318	0.55432	.	.	ENSG00000116824	ENST00000369478	D	0.83506	-1.73	5.25	4.34	0.51931	.	0.187079	0.35096	N	0.003445	T	0.78799	0.4340	M	0.66939	2.045	0.32787	N	0.5017	D	0.62365	0.991	P	0.50440	0.641	T	0.80654	-0.1286	10	0.72032	D	0.01	-11.4434	9.9363	0.41552	0.0:0.9081:0.0:0.0919	.	338	P06729	CD2_HUMAN	S	338	ENSP00000358490:P338S	ENSP00000358490:P338S	P	+	1	0	CD2	117112884	0.079000	0.21365	0.075000	0.20258	0.646000	0.38490	1.154000	0.31688	1.587000	0.49959	0.655000	0.94253	CCC		0.517	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		T	117311361	C	T	117311361	3	4	425	1	0	0	0	0	1	0	0	0	2979	855	30	2	1030	2	CD2	1	117311361	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	69708062	117311361	131939260	6	23251											
ADAMTSL4	54507	genome.wustl.edu	37	1	150525927	150525927	+	Missense_Mutation	SNP	C	C	G	rs201977274		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:150525927C>G	ENST00000369038.2	+	4	661	c.460C>G	c.(460-462)Cca>Gca	p.P154A	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P154A|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P154A|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P154A|MIR4257_ENST00000581735.1_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	154					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCCATCAAGCCAGGAATGTT	0.587																																																0			1											85	85	85					1																	150525927		2203	4300	6503	148792551	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.460C>G	1.37:g.150525927C>G	ENSP00000358034:p.Pro154Ala		148792551	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942823	0.73672	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.79141	-1.24;-1.2;-0.89;-1.2	4.39	4.39	0.52855	.	.	.	.	.	D	0.82273	0.5001	M	0.65498	2.005	0.32607	N	0.525133	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.85130	0.994;0.996;0.994;0.997	T	0.82448	-0.0452	9	0.87932	D	0	.	12.452	0.55682	0.0:1.0:0.0:0.0	.	154;154;154;154	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	A	154	ENSP00000358037:P154A;ENSP00000271643:P154A;ENSP00000358035:P154A;ENSP00000358034:P154A	ENSP00000271643:P154A	P	+	1	0	ADAMTSL4	148792551	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.874000	0.56101	1.994000	0.58287	0.542000	0.68232	CCA		0.587	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		G	150525927	C	G	150525927	3	3	425	1	0	0	0	0	1	0	0	0	277	739	26	3	474	3	ADAMTSL4	1	150525927	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	33214566	150525927	98724694	7	23252											
ADAMTS4	9507	genome.wustl.edu	37	1	161165361	161165361	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:161165361G>C	ENST00000367996.5	-	4	1583	c.1155C>G	c.(1153-1155)agC>agG	p.S385R	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	385	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GGCGAGAGGTGCTCAAAGGCC	0.557																																																0			1											188	157	167					1																	161165361		2203	4300	6503	159431985	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1155C>G	1.37:g.161165361G>C	ENSP00000356975:p.Ser385Arg		159431985	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101391	0.20632	.	.	ENSG00000158859	ENST00000367996	T	0.63744	-0.06	4.77	0.669	0.17918	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.145121	0.46442	D	0.000293	T	0.29389	0.0732	L	0.45422	1.42	0.80722	D	1	B	0.15141	0.012	B	0.18871	0.023	T	0.09930	-1.0652	10	0.18710	T	0.47	.	9.2561	0.37584	0.3205:0.0:0.6795:0.0	.	385	O75173	ATS4_HUMAN	R	385	ENSP00000356975:S385R	ENSP00000356975:S385R	S	-	3	2	ADAMTS4	159431985	0.000000	0.05858	0.885000	0.34714	0.956000	0.61745	-0.029000	0.12329	0.218000	0.20820	0.561000	0.74099	AGC		0.557	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		C	161165361	G	C	161165361	3	2	425	1	0	0	0	0	1	0	0	0	268	1310	46	3	1382	3	ADAMTS4	1	161165361	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	10639434	161165361	88085260	8	23253											
FAM5C	339479	genome.wustl.edu	37	1	190067963	190067963	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:190067963C>T	ENST00000367462.3	-	8	1717	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	BRINP3_ENST00000534846.1_Missense_Mutation_p.E394K	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	496					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TATTTCATCTCGAGATCTTGC	0.498																																																0			1											162	159	160					1																	190067963		2203	4300	6503	188334586	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1486G>A	1.37:g.190067963C>T	ENSP00000356432:p.Glu496Lys		188334586	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434742	0.83885	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.54675	0.56;0.56	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.959	T	0.75365	-0.3343	10	0.87932	D	0	.	17.4417	0.87566	0.0:1.0:0.0:0.0	.	394;496	B7Z260;Q76B58	.;FAM5C_HUMAN	K	496;394	ENSP00000356432:E496K;ENSP00000438022:E394K	ENSP00000356432:E496K	E	-	1	0	FAM5C	188334586	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	7.734000	0.84928	2.712000	0.92718	0.591000	0.81541	GAG		0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		T	190067963	C	T	190067963	3	4	425	1	0	0	0	0	1	0	0	0	5594	893	31	1	818	1	FAM5C	1	190067963	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	28902602	190067963	59182658	9	23254											
DSTYK	25778	genome.wustl.edu	37	1	205156548	205156548	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:205156548G>T	ENST00000367162.3	-	2	682	c.652C>A	c.(652-654)Cag>Aag	p.Q218K	DSTYK_ENST00000367161.3_Missense_Mutation_p.Q218K|DSTYK_ENST00000367160.4_Missense_Mutation_p.Q218K	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	218					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ATTGGTACCTGTAAGAGAGCA	0.398																																																0			1											84	63	70					1																	205156548		2203	4300	6503	203423171	SO:0001583	missense	25778			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.652C>A	1.37:g.205156548G>T	ENSP00000356130:p.Gln218Lys		203423171	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	4.121	0.020663	0.08006	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.76316	-0.6;-0.95;-1.01	5.39	3.47	0.39725	.	0.117701	0.64402	N	0.000014	T	0.62159	0.2405	N	0.17800	0.525	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.51624	-0.8682	10	0.14656	T	0.56	-16.4702	13.8493	0.63487	0.0:0.0:0.6039:0.3961	.	218;218	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	K	218	ENSP00000356128:Q218K;ENSP00000356129:Q218K;ENSP00000356130:Q218K	ENSP00000356128:Q218K	Q	-	1	0	DSTYK	203423171	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.996000	0.63914	0.605000	0.29947	-0.268000	0.10319	CAG		0.398	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		T	205156548	G	T	205156548	3	4	425	1	0	0	0	0	1	0	0	0	4785	1386	48	3	2185	3	DSTYK	1	205156548	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	15088585	205156548	44094073	10	23255											
WDR64	128025	genome.wustl.edu	37	1	241904937	241904947	+	Frame_Shift_Del	DEL	CTCACTATCTG	CTCACTATCTG	-	rs374361180		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	CTCACTATCTG	CTCACTATCTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:241904937_241904947delCTCACTATCTG	ENST00000366552.2	+	11	1618_1628	c.1411_1421delCTCACTATCTG	c.(1411-1422)ctcactatctgcfs	p.LTIC471fs	WDR64_ENST00000437684.2_Frame_Shift_Del_p.LTIC471fs	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	471										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCATCAAGTACTCACTATCTGCTCTGAATCC	0.327																																																0			1																																								239971570	SO:0001589	frameshift_variant	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1411_1421delCTCACTATCTG	1.37:g.241904937_241904947delCTCACTATCTG	ENSP00000355510:p.Leu471fs		239971560	B1ANT0|Q7Z573|Q96LY9	Frame_Shift_Del	DEL	ENST00000366552.2	37																																																																																					0.327	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		-	241904947	CTCACTATCTG	-	241904937	7	5	425	1	0	1	0	1	0	0	0	0	17315	565	20	0	1453	0	WDR64	1	241904937	Frame_Shift_Del	DEL	CTCACTATCTG	TCGA-61-1737-01A-01W-0639-09	36748389	241904937	7345684	11	23256											
PPPDE1	51029	genome.wustl.edu	37	1	244869024	244869024	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:244869024C>G	ENST00000302550.11	+	5	897	c.518C>G	c.(517-519)gCt>gGt	p.A173G	DESI2_ENST00000263831.7_Missense_Mutation_p.A140G	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	173						cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										GCAGAGGATGCTGCCGCATCC	0.562																																																0			1											42	45	44					1																	244869024		2203	4300	6503	242935647	SO:0001583	missense	51029			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"chromosome 1 open reading frame 121", "family with sequence similarity 152, member A", "PPPDE peptidase domain containing 1"	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.518C>G	1.37:g.244869024C>G	ENSP00000306528:p.Ala173Gly		242935647	B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	ENST00000302550.11	37	CCDS1626.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844098	0.51164	.	.	ENSG00000121644	ENST00000302550;ENST00000263831	.	.	.	6.17	6.17	0.99709	.	0.087650	0.85682	D	0.000000	T	0.59636	0.2208	L	0.44542	1.39	0.51233	D	0.999914	B;B	0.30605	0.287;0.083	B;B	0.33620	0.167;0.035	T	0.51631	-0.8681	9	0.21014	T	0.42	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	140;173	Q9BSY9-2;Q9BSY9	.;PPDE1_HUMAN	G	173;140	.	ENSP00000263831:A140G	A	+	2	0	PPPDE1	242935647	0.986000	0.35501	0.357000	0.25798	0.884000	0.51177	2.711000	0.47177	2.941000	0.99782	0.655000	0.94253	GCT		0.562	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1	NM_016076		G	244869024	C	G	244869024	3	3	425	1	0	0	0	0	1	0	0	0	12411	797	28	3	536	3	PPPDE1	1	244869024	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	2964087	244869024	4381597	12	23257											
KIDINS220	57498	genome.wustl.edu	37	2	8890420	8890420	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:8890420T>C	ENST00000256707.3	-	24	3417	c.3236A>G	c.(3235-3237)tAc>tGc	p.Y1079C	KIDINS220_ENST00000427284.1_Missense_Mutation_p.Y1079C|KIDINS220_ENST00000473731.1_Missense_Mutation_p.Y1079C|KIDINS220_ENST00000418530.1_Missense_Mutation_p.Y1037C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1079					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGCGGGGGGTACGCCAGTCC	0.557																																																0			2											43	46	45					2																	8890420		1962	4135	6097	8807871	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3236A>G	2.37:g.8890420T>C	ENSP00000256707:p.Tyr1079Cys		8807871	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.993127	0.35131	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.67698	0.87;-0.28;-0.25;-0.16;-0.25;-0.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.79799	0.4508	M	0.63428	1.95	0.51482	D	0.99992	B;D;D;D;D	0.89917	0.024;0.996;0.999;1.0;1.0	B;P;D;D;D	0.72625	0.006;0.827;0.95;0.978;0.95	T	0.81234	-0.1025	10	0.62326	D	0.03	.	16.1354	0.81481	0.0:0.0:0.0:1.0	.	1080;1080;763;1037;1079	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	C	826;763;1079;1079;1037;1079;1080;88	ENSP00000420364:Y826C;ENSP00000256707:Y1079C;ENSP00000411849:Y1079C;ENSP00000414923:Y1037C;ENSP00000418974:Y1079C;ENSP00000419964:Y1080C	ENSP00000256707:Y1079C	Y	-	2	0	KIDINS220	8807871	1.000000	0.71417	0.049000	0.19019	0.015000	0.08874	4.678000	0.61641	2.207000	0.71202	0.533000	0.62120	TAC		0.557	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		C	8890420	T	C	8890420	3	2	425	1	0	0	0	0	1	0	0	0	8271	1638	57	4	2107	4	KIDINS220	2	8890420	Missense_Mutation	SNP	T	TCGA-61-1737-01A-01W-0639-09		8890420	234308953	13	23258											
C2orf71	388939	genome.wustl.edu	37	2	29296903	29296903	+	Silent	SNP	A	A	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:29296903A>G	ENST00000331664.5	-	1	224	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	75					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCATGAGCTGACAAAGACCTT	0.512																																																0			2											155	146	149					2																	29296903		1942	4153	6095	29150407	SO:0001819	synonymous_variant	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.225T>C	2.37:g.29296903A>G			29150407		Silent	SNP	ENST00000331664.5	37	CCDS42669.1																																																																																				0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		G	29296903	A	G	29296903	2	3	425	1	0	0	0	0	0	0	0	1	2191	273	10	4		4	C2orf71	2	29296903	Silent	SNP	A	TCGA-61-1737-01A-01W-0639-09	20406483	29296903	213902470	14	23259											
GLI2	2736	genome.wustl.edu	37	2	121747795	121747795	+	Silent	SNP	C	C	T	rs140565050	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:121747795C>T	ENST00000452319.1	+	14	4365	c.4305C>T	c.(4303-4305)gaC>gaT	p.D1435D	GLI2_ENST00000361492.4_Silent_p.D1435D|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCGCAGGACGCAGGTGGGG	0.647													C|||	2	0.000399361	0	0	5008	,	,		17643	0.002		0	False		,,,				2504	0															0			2						C		0,4406		0,0,2203	40	45	43		4305	-1.3	0	2	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GLI2	NM_005270.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1435/1587	121747795	3,13003	2203	4300	6503	121464265	SO:0001819	synonymous_variant	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4305C>T	2.37:g.121747795C>T			121464265		Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																				0.647	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121747795	C	T	121747795	2	4	425	1	0	0	0	0	0	0	0	1	6438	535	19	1		1	GLI2	2	121747795	Silent	SNP	C	TCGA-61-1737-01A-01W-0639-09	92450892	121747795	121451578	15	23260											
HOXD10	3236	genome.wustl.edu	37	2	176982219	176982219	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:176982219G>C	ENST00000249501.4	+	1	913	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	220					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGAGAGCCCCGAGGCCAAAGG	0.622																																																0			2											22	27	25					2																	176982219		2195	4284	6479	176690465	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.658G>C	2.37:g.176982219G>C	ENSP00000249501:p.Glu220Gln		176690465	Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059233	0.36373	.	.	ENSG00000128710	ENST00000249501	D	0.93366	-3.21	5.9	5.9	0.94986	.	0.231325	0.48767	D	0.000161	D	0.93723	0.7994	M	0.73962	2.25	0.54753	D	0.999981	B	0.31383	0.321	B	0.34180	0.177	D	0.91546	0.5253	10	0.41790	T	0.15	.	20.4349	0.99088	0.0:0.0:1.0:0.0	.	220	P28358	HXD10_HUMAN	Q	220	ENSP00000249501:E220Q	ENSP00000249501:E220Q	E	+	1	0	HOXD10	176690465	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.092000	0.94157	2.839000	0.97877	0.644000	0.83932	GAG		0.622	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			C	176982219	G	C	176982219	3	2	425	1	0	0	0	0	1	0	0	0	7319	1059	37	3	660	3	HOXD10	2	176982219	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	55234424	176982219	66217154	16	23261											
TTN	7273	genome.wustl.edu	37	2	179404969	179404969	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:179404969C>A	ENST00000591111.1	-	301	93225	c.93001G>T	c.(93001-93003)Gta>Tta	p.V31001L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30074L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23769L|TTN_ENST00000589042.1_Missense_Mutation_p.V32642L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23702L|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23577L			Q8WZ42	TITIN_HUMAN	titin	31001	Fibronectin type-III 126. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTGATCTACTTTTTGCATT	0.448																																																0			2											395	387	389					2																	179404969		1972	4169	6141	179113215	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93001G>T	2.37:g.179404969C>A	ENSP00000465570:p.Val31001Leu		179113215	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.11	3.304984	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.96	5.96	0.96718	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66005	0.2746	L	0.33792	1.035	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.66874	-0.5813	9	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	23577;23702;23769;31001	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	30074;23577;23769;23702;23574	ENSP00000343764:V30074L;ENSP00000434586:V23577L;ENSP00000340554:V23769L;ENSP00000352154:V23702L	ENSP00000340554:V23769L	V	-	1	0	TTN	179113215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GTA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179404969	C	A	179404969	3	1	425	1	0	0	0	0	1	0	0	0	16735	565	20	3	10103	3	TTN	2	179404969	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	2422750	179404969	63794404	17	23262											
TTN	7273	genome.wustl.edu	37	2	179495730	179495762	+	Splice_Site	DEL	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC	-	rs139264089	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:179495730_179495762delTCAAGAGTGAAACTCATGGAAATTTCCTTACCC	ENST00000591111.1	-	187	39314_39316	c.39090_39092delGGGTAAGGAAATTTCCATGAGTTTCACTCTTGA	c.(39088-39093)gagggt>gat	p.13030_13031EG>D	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.12103_12104EG>D|TTN_ENST00000342175.6_Splice_Site_p.5798_5799EG>D|TTN_ENST00000589042.1_Splice_Site_p.14671_14672EG>D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.5731_5732EG>D|TTN_ENST00000460472.2_Splice_Site_p.5606_5607EG>D			Q8WZ42	TITIN_HUMAN	titin	13030	Ig-like 86.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCCAATGCTTCAAGAGTGAAACTCATGGAAATTTCCTTACCCTCAATGTCAA	0.451																																																0			2																																								179204007	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39091+1GGGTAAGGAAATTTCCATGAGTTTCACTCTTGA>-	2.37:g.179495730_179495762delTCAAGAGTGAAACTCATGGAAATTTCCTTACCC			179203975	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	DEL	ENST00000591111.1	37																																																																																					0.451	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	In_Frame_Del	-	179495762	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC	-	179495730	8	5	425	1	0	1	0	1	0	0	1	0	16735	1798	62	0		0	TTN	2	179495730	Splice_Site	DEL	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC	TCGA-61-1737-01A-01W-0639-09	90761	179495730	63703643	18	23263											
ABCA12	26154	genome.wustl.edu	37	2	215823127	215823127	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:215823127G>A	ENST00000272895.7	-	41	6210	c.5991C>T	c.(5989-5991)taC>taT	p.Y1997Y	AC072062.1_ENST00000420134.1_RNA|AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.Y1679Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1997					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGGTGACAGAGTAGCCCATCA	0.433																																					Ovarian(66;664 1488 5121 34295)											0			2											168	136	147					2																	215823127		2203	4300	6503	215531372	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5991C>T	2.37:g.215823127G>A			215531372	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		A	215823127	G	A	215823127	2	1	425	1	0	0	0	0	0	0	0	1	30	1024	36	2		2	ABCA12	2	215823127	Silent	SNP	G	TCGA-61-1737-01A-01W-0639-09	36327397	215823127	27376246	19	23264											
SPEG	10290	genome.wustl.edu	37	2	220354291	220354291	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:220354291G>C	ENST00000312358.7	+	36	8683	c.8551G>C	c.(8551-8553)Ggc>Cgc	p.G2851R	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2851	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGACACAGGGGCCTGCAGGC	0.662																																																0			2											61	70	67					2																	220354291		1962	4129	6091	220062535	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8551G>C	2.37:g.220354291G>C	ENSP00000311684:p.Gly2851Arg		220062535	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196369	0.38806	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.64618	-0.11	4.11	4.11	0.48088	.	0.204693	0.24262	U	0.040066	T	0.44414	0.1292	N	0.14661	0.345	0.80722	D	1	P	0.44578	0.838	B	0.41813	0.367	T	0.36915	-0.9728	10	0.29301	T	0.29	.	11.7813	0.52016	0.0:0.0:0.824:0.176	.	2851	Q15772	SPEG_HUMAN	R	2851	ENSP00000311684:G2851R	ENSP00000265327:G2851R	G	+	1	0	SPEG	220062535	.	.	1.000000	0.80357	0.931000	0.56810	.	.	2.299000	0.77371	0.456000	0.33151	GGC		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		C	220354291	G	C	220354291	3	2	425	1	0	0	0	0	1	0	0	0	15038	1232	43	3	8705	3	SPEG	2	220354291	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	4531164	220354291	22845082	20	23265											
IQSEC1	9922	genome.wustl.edu	37	3	12966207	12966207	+	Missense_Mutation	SNP	C	C	T	rs200196417		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:12966207C>T	ENST00000273221.4	-	4	1862	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	549	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACAAAGCCACGCTCGATGAG	0.677													C|||	1	0.000199681	0	0	5008	,	,		18588	0.001		0	False		,,,				2504	0															0			3						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79	75	76		1604,1646	4.3	1	3		76	0,8600		0,0,4300	no	missense,missense	IQSEC1	NM_001134382.1,NM_014869.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	535/1115,549/964	12966207	1,13005	2203	4300	6503	12941207	SO:0001583	missense	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1646G>A	3.37:g.12966207C>T	ENSP00000273221:p.Arg549His		12941207	O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	CCDS33703.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.8	5.036512	0.93630	2.27E-4	0.0	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.55413	0.52;0.52	4.28	4.28	0.50868	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	.	.	.	0.80722	D	1	P;D;P	0.89917	0.615;1.0;0.462	B;D;B	0.76575	0.418;0.988;0.327	T	0.77387	-0.2607	9	0.56958	D	0.05	.	17.0637	0.86554	0.0:1.0:0.0:0.0	.	535;535;549	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	549;535;535	ENSP00000273221:R549H;ENSP00000402299:R535H	ENSP00000273221:R549H	R	-	2	0	IQSEC1	12941207	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	7.736000	0.84948	2.085000	0.62840	0.655000	0.94253	CGT		0.677	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		T	12966207	C	T	12966207	3	4	425	1	0	0	0	0	1	0	0	0	7817	536	19	1	1834	1	IQSEC1	3	12966207	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09		12966207	185056223	21	23266											
EOMES	8320	genome.wustl.edu	37	3	27763020	27763020	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:27763020C>T	ENST00000295743.4	-	1	969	c.766G>A	c.(766-768)Ggg>Agg	p.G256R	EOMES_ENST00000449599.1_Missense_Mutation_p.G256R|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	256	Gly-rich.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCCAGGCCCCCCAGTCCTCCG	0.677																																																0			3											14	24	20					3																	27763020		2199	4295	6494	27738024	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.766G>A	3.37:g.27763020C>T	ENSP00000295743:p.Gly256Arg		27738024	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800654	0.50315	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000535713	D;D	0.85339	-1.97;-1.97	4.97	4.97	0.65823	.	2.369060	0.02751	U	0.117434	D	0.88168	0.6364	L	0.38531	1.155	0.80722	D	1	D;P;P	0.67145	0.996;0.944;0.906	D;P;P	0.63381	0.914;0.79;0.621	T	0.76929	-0.2777	10	0.16896	T	0.51	.	10.6394	0.45584	0.0:0.9091:0.0:0.0909	.	256;256;256	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	R	256;256;121	ENSP00000295743:G256R;ENSP00000388620:G256R	ENSP00000295743:G256R	G	-	1	0	EOMES	27738024	0.993000	0.37304	0.835000	0.33067	0.961000	0.63080	0.945000	0.29056	2.275000	0.75901	0.462000	0.41574	GGG		0.677	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		T	27763020	C	T	27763020	3	4	425	1	0	0	0	0	1	0	0	0	5147	623	22	2	1318	2	EOMES	3	27763020	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	14796813	27763020	170259410	22	23267											
TTC21A	199223	genome.wustl.edu	37	3	39170310	39170310	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:39170310C>G	ENST00000431162.2	+	14	1938	c.1804C>G	c.(1804-1806)Cca>Gca	p.P602A	TTC21A_ENST00000440121.1_Missense_Mutation_p.P554A|TTC21A_ENST00000301819.6_Missense_Mutation_p.P603A			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	602										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CATCAAATTGCCAGCTCTGAA	0.557																																																0			3											101	102	102					3																	39170310		1939	4145	6084	39145314	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1804C>G	3.37:g.39170310C>G	ENSP00000398211:p.Pro602Ala		39145314	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736671	0.69304	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.75367	-0.93;-0.0;0.7	4.83	4.83	0.62350	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000007	T	0.81969	0.4935	L	0.60067	1.865	0.58432	D	0.999994	D;D;D	0.76494	0.999;0.99;0.982	D;P;P	0.66716	0.946;0.768;0.591	T	0.77950	-0.2395	10	0.18276	T	0.48	-11.5299	17.0538	0.86527	0.0:1.0:0.0:0.0	.	554;603;602	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	A	603;585;602;554	ENSP00000301819:P603A;ENSP00000398211:P602A;ENSP00000410882:P554A	ENSP00000301819:P603A	P	+	1	0	TTC21A	39145314	1.000000	0.71417	0.070000	0.20053	0.504000	0.33889	7.365000	0.79537	2.386000	0.81285	0.563000	0.77884	CCA		0.557	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		G	39170310	C	G	39170310	3	3	425	1	0	0	0	0	1	0	0	0	16687	739	26	3	1861	3	TTC21A	3	39170310	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	11407290	39170310	158852120	23	23268											
CCDC13	152206	genome.wustl.edu	37	3	42798683	42798683	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:42798683T>A	ENST00000310232.6	-	3	328	c.245A>T	c.(244-246)cAc>cTc	p.H82L	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	82										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ATTTCGAAGGTGTTCAATCTC	0.493																																																0			3											182	164	170					3																	42798683		2203	4300	6503	42773687	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.245A>T	3.37:g.42798683T>A	ENSP00000309836:p.His82Leu		42773687		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438650	0.43326	.	.	ENSG00000244607	ENST00000310232	T	0.22336	1.96	5.37	2.78	0.32641	.	0.506280	0.23017	N	0.052891	T	0.13500	0.0327	L	0.34521	1.04	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.09377	0.004;0.002;0.001	T	0.08932	-1.0698	10	0.27082	T	0.32	.	6.5371	0.22361	0.1379:0.0785:0.0:0.7836	.	82;82;82	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	L	82	ENSP00000309836:H82L	ENSP00000309836:H82L	H	-	2	0	CCDC13	42773687	1.000000	0.71417	0.868000	0.34077	0.922000	0.55478	3.337000	0.52120	0.853000	0.35312	0.482000	0.46254	CAC		0.493	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		A	42798683	T	A	42798683	3	1	425	1	0	0	0	0	1	0	0	0	2765	1696	59	5	1958	5	CCDC13	3	42798683	Missense_Mutation	SNP	T	TCGA-61-1737-01A-01W-0639-09	3628373	42798683	155223747	24	23269											
ACAD11	84129	genome.wustl.edu	37	3	132358366	132358382	+	Frame_Shift_Del	DEL	TCTGAAATCTCCATGAA	TCTGAAATCTCCATGAA	-			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	TCTGAAATCTCCATGAA	TCTGAAATCTCCATGAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:132358366_132358382delTCTGAAATCTCCATGAA	ENST00000264990.6	-	5	1627_1643	c.656_672delTTCATGGAGATTTCAGA	c.(655-672)attcatggagatttcagafs	p.IHGDFR219fs	ACAD11_ENST00000481970.2_Frame_Shift_Del_p.IHGDFR219fs|ACAD11_ENST00000355458.3_Frame_Shift_Del_p.IHGDFR219fs|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	219					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGTTATCTAGTCTGAAATCTCCATGAATCAAATTCTC	0.401																																																0			3																																								133841072	SO:0001589	frameshift_variant	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.656_672delTTCATGGAGATTTCAGA	3.37:g.132358366_132358382delTCTGAAATCTCCATGAA	ENSP00000264990:p.Ile219fs		133841056	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Frame_Shift_Del	DEL	ENST00000264990.6	37	CCDS3074.1																																																																																				0.401	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		-	132358382	TCTGAAATCTCCATGAA	-	132358366	7	5	425	1	0	1	0	1	0	0	0	0	109	1664	58	0	1734	0	ACAD11	3	132358366	Frame_Shift_Del	DEL	TCTGAAATCTCCATGAA	TCGA-61-1737-01A-01W-0639-09	89559683	132358366	65664064	25	23270											
PIGX	54965	genome.wustl.edu	37	3	196454797	196454797	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:196454797G>A	ENST00000421265.1	+	4	252	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000314118.4_Missense_Mutation_p.V67M			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	108					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		TGAACAGGCAGTGATGGTTTC	0.338																																																0			3											69	76	74					3																	196454797		2203	4300	6503	197939194	SO:0001583	missense	54965			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"Phosphatidylinositol glycan anchor biosynthesis"	26046	protein-coding gene	gene with protein product		610276	"phosphatidylinositol glycan, class X"			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.199G>A	3.37:g.196454797G>A	ENSP00000416446:p.Val67Met		197939194	Q9NWZ2	Missense_Mutation	SNP	ENST00000421265.1	37		.	.	.	.	.	.	.	.	.	.	G	9.780	1.175139	0.21704	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000451319	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.1	-3.26	0.05064	.	0.640450	0.15022	N	0.284940	T	0.16471	0.0396	L	0.45581	1.43	0.80722	D	1	P;B	0.38473	0.633;0.347	B;B	0.34489	0.184;0.146	T	0.18650	-1.0330	10	0.32370	T	0.25	-4.0261	0.8979	0.01267	0.3619:0.1222:0.3125:0.2034	.	108;108	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	M	67;108;67;108;67;67	ENSP00000409073:V67M;ENSP00000376192:V108M;ENSP00000317301:V67M;ENSP00000296333:V108M;ENSP00000416446:V67M;ENSP00000390804:V67M	ENSP00000296333:V108M	V	+	1	0	PIGX	197939194	0.188000	0.23250	0.938000	0.37757	0.600000	0.36913	-0.713000	0.05007	-0.461000	0.06993	-0.253000	0.11424	GTG		0.338	PIGX-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000340684.1	NM_017861		A	196454797	G	A	196454797	3	1	425	1	0	0	0	0	1	0	0	0	11903	1029	36	2	336	2	PIGX	3	196454797	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	64096431	196454797	1567633	26	23271											
KIAA1109	84162	genome.wustl.edu	37	4	123207820	123207820	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr4:123207820G>C	ENST00000264501.4	+	53	9535	c.9162G>C	c.(9160-9162)atG>atC	p.M3054I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.M3054I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M3054I			Q2LD37	K1109_HUMAN	KIAA1109	3054					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGTTACCATGTCAGGGAAAT	0.398																																																0			4											145	136	139					4																	123207820		1891	4122	6013	123427270	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9162G>C	4.37:g.123207820G>C	ENSP00000264501:p.Met3054Ile		123427270	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.246527|4.246527	0.80024|0.80024	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.21361|.	2.59;2.59;2.01|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59390|0.59390	0.2190|0.2190	L|L	0.29908|0.29908	0.895|0.895	0.53688|0.53688	D|D	0.999973|0.999973	P;P|.	0.45126|.	0.656;0.851|.	P;P|.	0.58391|.	0.679;0.838|.	T|T	0.52548|0.52548	-0.8561|-0.8561	10|5	0.30078|.	T|.	0.28|.	.|.	19.6736|19.6736	0.95921|0.95921	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3054;3054|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	I|L	3054|1012	ENSP00000264501:M3054I;ENSP00000373390:M3054I;ENSP00000389925:M3054I|.	ENSP00000264501:M3054I|.	M|V	+|+	3|1	0|0	KIAA1109|KIAA1109	123427270|123427270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.320000|9.320000	0.96346|0.96346	2.660000|2.660000	0.90430|0.90430	0.650000|0.650000	0.86243|0.86243	ATG|GTC		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123207820	G	C	123207820	3	2	425	1	0	0	0	0	1	0	0	0	8208	1377	48	3	9364	3	KIAA1109	4	123207820	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09		123207820	67946456	27	23272											
TRIO	7204	genome.wustl.edu	37	5	14406748	14406748	+	Silent	SNP	A	A	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:14406748A>G	ENST00000344204.4	+	33	4950	c.4926A>G	c.(4924-4926)tcA>tcG	p.S1642S	TRIO_ENST00000537187.1_Silent_p.S1642S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1642					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCATCGCCTCACGGACGTCTC	0.572																																																0			5											115	103	107					5																	14406748		2203	4300	6503	14459748	SO:0001819	synonymous_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4926A>G	5.37:g.14406748A>G			14459748	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																				0.572	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		G	14406748	A	G	14406748	2	3	425	1	0	0	0	0	0	0	0	1	16552	146	6	4		4	TRIO	5	14406748	Silent	SNP	A	TCGA-61-1737-01A-01W-0639-09		14406748	166508512	28	23273											
ADAMTS6	11174	genome.wustl.edu	37	5	64468682	64468685	+	5'UTR	DEL	AGCG	AGCG	-	rs74464814	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	AGCG	AGCG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:64468682_64468685delAGCG	ENST00000314351.5	-	0	720_723							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R192C(1)|p.R1021C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCTGTGACCCAGCGAGGAGGAGGG	0.554																																																2	Substitution - Missense(2)	pancreas(2)	5																																								64504441	SO:0001623	5_prime_UTR_variant	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-602CGCT>-	5.37:g.64468682_64468685delAGCG			64504438	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Frame_Shift_Del	DEL	ENST00000314351.5	37																																																																																					0.554	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941		-	64468685	AGCG	-	64468682	6	5	425	0	1	1	0	1	0	0	0	0	270	188	7	0		0	ADAMTS6	5	64468682	5'UTR	DEL	AGCG	TCGA-61-1737-01A-01W-0639-09	50061934	64468682	116446578	29	23274											
IQGAP2	10788	genome.wustl.edu	37	5	75998404	75998404	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:75998404C>G	ENST00000274364.6	+	35	4900	c.4603C>G	c.(4603-4605)Ctc>Gtc	p.L1535V	IQGAP2_ENST00000379730.3_Missense_Mutation_p.L1037V|IQGAP2_ENST00000502745.1_Missense_Mutation_p.L1031V|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000396234.3_Missense_Mutation_p.L1031V|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1535					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAAGGTGCAACTCAATATTCA	0.368																																																0			5											112	108	109					5																	75998404		2203	4300	6503	76034160	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4603C>G	5.37:g.75998404C>G	ENSP00000274364:p.Leu1535Val		76034160	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612643	0.66672	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	T;T;T;T	0.03889	3.89;3.78;3.77;3.78	5.41	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	L	0.45698	1.435	0.80722	D	1	D;D;P	0.53885	0.963;0.963;0.571	P;P;B	0.59487	0.858;0.858;0.408	T	0.17077	-1.0381	10	0.21014	T	0.42	-8.4459	15.2218	0.73316	0.1494:0.8506:0.0:0.0	.	1037;1031;1535	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	V	1535;1037;1031;1031	ENSP00000274364:L1535V;ENSP00000442313:L1037V;ENSP00000379535:L1031V;ENSP00000426027:L1031V	ENSP00000274364:L1535V	L	+	1	0	IQGAP2	76034160	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.279000	0.51670	1.250000	0.43966	0.655000	0.94253	CTC		0.368	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		G	75998404	C	G	75998404	3	3	425	1	0	0	0	0	1	0	0	0	7815	565	20	3	4741	3	IQGAP2	5	75998404	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	11529722	75998404	104916856	30	23275											
SNCAIP	9627	genome.wustl.edu	37	5	121759168	121759168	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:121759168G>T	ENST00000261368.8	+	4	998	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	SNCAIP_ENST00000261367.7_Missense_Mutation_p.G293C|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G246C|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G293C|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.G293C	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	246					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGTTAAATGTGGCTCTGCATA	0.463																																																0			5											62	63	63					5																	121759168		2203	4300	6503	121787067	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.736G>T	5.37:g.121759168G>T	ENSP00000261368:p.Gly246Cys		121787067	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648708	0.47258	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.15603	4.72;2.48;2.41;4.72;2.41;4.18	6.02	2.89	0.33648	.	0.439987	0.27912	N	0.017355	T	0.23451	0.0567	L	0.27053	0.805	0.39711	D	0.971328	P;D;D;D	0.71674	0.942;0.998;0.994;0.983	P;D;P;P	0.64595	0.579;0.927;0.789;0.65	T	0.02208	-1.1195	9	.	.	.	-9.3281	11.5599	0.50769	0.2793:0.0:0.7207:0.0	.	246;293;293;246	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	C	246;246;293;246;293;293	ENSP00000422106:G246C;ENSP00000261368:G246C;ENSP00000368848:G293C;ENSP00000368851:G246C;ENSP00000261367:G293C;ENSP00000423199:G293C	.	G	+	1	0	SNCAIP	121787067	1.000000	0.71417	0.112000	0.21494	0.952000	0.60782	1.755000	0.38379	0.897000	0.36392	-0.136000	0.14681	GGC		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			T	121759168	G	T	121759168	3	4	425	1	0	0	0	0	1	0	0	0	14844	1348	47	3	746	3	SNCAIP	5	121759168	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	45760764	121759168	59156092	31	23276											
RAPGEF6	51735	genome.wustl.edu	37	5	130764797	130764797	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:130764797G>C	ENST00000509018.1	-	27	4783	c.4578C>G	c.(4576-4578)caC>caG	p.H1526Q	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.H1576Q|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1534Q|RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000507093.1_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1526					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GAGGTTTTAGGTGTGTGTGGG	0.512																																					Melanoma(168;435 1955 13113 13877 23213)											0			5											128	121	123					5																	130764797		2203	4300	6503	130792696	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4578C>G	5.37:g.130764797G>C	ENSP00000421684:p.His1526Gln		130792696	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199216	0.58126	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	T;T;T	0.23348	1.91;1.91;2.01	5.06	3.19	0.36642	.	0.281493	0.41500	N	0.000870	T	0.23926	0.0579	L	0.56769	1.78	0.80722	D	1	P;P;P	0.45902	0.868;0.868;0.868	B;B;B	0.42245	0.381;0.381;0.381	T	0.02512	-1.1148	10	0.30854	T	0.27	.	8.2022	0.31432	0.139:0.1334:0.7276:0.0	.	1534;1576;1526	B7ZML2;E9PCH4;Q8TEU7	.;.;RPGF6_HUMAN	Q	1526;1534;1576	ENSP00000421684:H1526Q;ENSP00000296859:H1534Q;ENSP00000426948:H1576Q	ENSP00000426948:H1576Q	H	-	3	2	RAPGEF6;FNIP1	130792696	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.142000	0.50601	1.326000	0.45319	0.655000	0.94253	CAC		0.512	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		C	130764797	G	C	130764797	3	2	425	1	0	0	0	0	1	0	0	0	13051	1252	44	3	235	3	RAPGEF6	5	130764797	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	9005629	130764797	50150463	32	23277											
PCDHGA12	26025	genome.wustl.edu	37	5	140811961	140811961	+	Missense_Mutation	SNP	C	C	A	rs149830124	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:140811961C>A	ENST00000252085.3	+	1	1777	c.1635C>A	c.(1633-1635)aaC>aaA	p.N545K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCAGCAACGTGTCGTTGA	0.627																																																0			5											141	155	150					5																	140811961		2203	4300	6503	140792145	SO:0001583	missense	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1635C>A	5.37:g.140811961C>A	ENSP00000252085:p.Asn545Lys		140792145	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	7.810	0.715409	0.15306	.	.	ENSG00000253159	ENST00000252085	T	0.50548	0.74	4.95	-3.39	0.04868	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.57784	0.2077	M	0.80422	2.495	0.19945	N	0.999946	P;P	0.39404	0.621;0.672	P;P	0.47430	0.547;0.5	T	0.61720	-0.7005	9	0.62326	D	0.03	.	13.9359	0.64026	0.0:0.3293:0.0:0.6707	.	545;545	O60330-2;O60330	.;PCDGC_HUMAN	K	545	ENSP00000252085:N545K	ENSP00000252085:N545K	N	+	3	2	PCDHGA12	140792145	0.000000	0.05858	0.875000	0.34327	0.020000	0.10135	-1.745000	0.01831	-0.684000	0.05183	-0.264000	0.10439	AAC		0.627	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		A	140811961	C	A	140811961	3	1	425	1	0	0	0	0	1	0	0	0	11553	535	19	3	1637	3	PCDHGA12	5	140811961	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	10047164	140811961	40103299	33	23278											
FLT4	2324	genome.wustl.edu	37	5	180030253	180030253	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:180030253C>T	ENST00000261937.6	-	30	4109	c.4031G>A	c.(4030-4032)aGc>aAc	p.S1344N		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1344					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCTCCTCGCTTGGCTCCGA	0.642																																					Colon(97;1075 1466 27033 27547 35871)											0			5											34	32	32					5																	180030253		2203	4300	6503	179962859	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.4031G>A	5.37:g.180030253C>T	ENSP00000261937:p.Ser1344Asn		179962859	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	9.385	1.074006	0.20147	.	.	ENSG00000037280	ENST00000261937	T	0.76709	-1.04	4.62	-2.78	0.05859	.	.	.	.	.	T	0.56187	0.1968	L	0.29908	0.895	0.09310	N	1	B	0.25955	0.138	B	0.21151	0.033	T	0.39165	-0.9627	9	0.13470	T	0.59	.	3.4858	0.07619	0.0999:0.1856:0.4855:0.229	.	1344	P35916	VGFR3_HUMAN	N	1344	ENSP00000261937:S1344N	ENSP00000261937:S1344N	S	-	2	0	FLT4	179962859	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.102000	0.15272	-0.245000	0.09625	0.471000	0.43371	AGC		0.642	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180030253	C	T	180030253	3	4	425	1	0	0	0	0	1	0	0	0	5944	797	28	2	64	2	FLT4	5	180030253	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	39218292	180030253	885007	34	23279											
KIFC1	3833	genome.wustl.edu	37	6	33372752	33372752	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:33372752G>C	ENST00000428849.2	+	7	1330	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	294					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TCATGGGCTAGAAATGGAGCG	0.627																																																0			6											72	72	72					6																	33372752		2203	4300	6503	33480730	SO:0001583	missense	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.880G>C	6.37:g.33372752G>C	ENSP00000393963:p.Glu294Gln		33480730	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805596	0.70682	.	.	ENSG00000237649	ENST00000428849	D	0.83250	-1.7	5.14	5.14	0.70334	.	0.107205	0.64402	D	0.000008	D	0.86602	0.5972	M	0.69523	2.12	0.53688	D	0.999979	D;D	0.65815	0.995;0.995	P;P	0.58391	0.791;0.838	D	0.86800	0.1991	10	0.52906	T	0.07	-20.2433	16.1562	0.81670	0.0:0.0:1.0:0.0	.	286;294	B4E063;Q9BW19	.;KIFC1_HUMAN	Q	294	ENSP00000393963:E294Q	ENSP00000393963:E294Q	E	+	1	0	KIFC1	33480730	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	6.527000	0.73803	2.677000	0.91161	0.655000	0.94253	GAA		0.627	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		C	33372752	G	C	33372752	3	2	425	1	0	0	0	0	1	0	0	0	8312	943	33	3	906	3	KIFC1	6	33372752	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09		33372752	137742315	35	23280											
CNR1	1268	genome.wustl.edu	37	6	88854909	88854932	+	In_Frame_Del	DEL	GAATGTCATTTGAGCCCACGTACA	GAATGTCATTTGAGCCCACGTACA	-	rs148575019		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	GAATGTCATTTGAGCCCACGTACA	GAATGTCATTTGAGCCCACGTACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:88854909_88854932delGAATGTCATTTGAGCCCACGTACA	ENST00000537554.1	-	2	3624_3647	c.62_85delTGTACGTGGGCTCAAATGACATTC	c.(61-87)ctgtacgtgggctcaaatgacattcag>cag	p.LYVGSNDI21del	CNR1_ENST00000428600.2_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000369499.2_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000549716.1_In_Frame_Del_p.CTWAQMTF16del|CNR1_ENST00000535130.1_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000549890.1_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000369501.2_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000362094.5_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000468898.1_Splice_Site_p.L21del	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	21					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.V23M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTTCGTACTGAATGTCATTTGAGCCCACGTACAGGAGGTCAGT	0.46																																																1	Substitution - Missense(1)	prostate(1)	6																																								88911651	SO:0001651	inframe_deletion	1268			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.62_85delTGTACGTGGGCTCAAATGACATTC	6.37:g.88854909_88854932delGAATGTCATTTGAGCCCACGTACA	ENSP00000441046:p.Leu21_Ile28del		88911628	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	In_Frame_Del	DEL	ENST00000537554.1	37	CCDS5015.1																																																																																				0.46	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			-	88854932	GAATGTCATTTGAGCCCACGTACA	-	88854909	7	5	425	1	0	1	0	1	0	0	0	0	3631	1299	45	0	1337	0	CNR1	6	88854909	In_Frame_Del	DEL	GAATGTCATTTGAGCCCACGTACA	TCGA-61-1737-01A-01W-0639-09	55482157	88854909	82260158	36	23281											
SYNE1	23345	genome.wustl.edu	37	6	152658130	152658130	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:152658130G>T	ENST00000367255.5	-	76	12975	c.12374C>A	c.(12373-12375)gCc>gAc	p.A4125D	SYNE1_ENST00000423061.1_Missense_Mutation_p.A4054D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3990D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4125D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4054D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4125					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGTTCTGGGCCTGGACAAG	0.423										HNSCC(10;0.0054)																																						0			6											68	62	64					6																	152658130		2203	4300	6503	152699823	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12374C>A	6.37:g.152658130G>T	ENSP00000356224:p.Ala4125Asp		152699823	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873305	0.33069	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.47	5.47	0.80525	.	0.115330	0.39210	N	0.001421	T	0.23846	0.0577	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.39782	0.561;0.561;0.561;0.688	B;B;B;B	0.39299	0.167;0.167;0.167;0.296	T	0.02526	-1.1146	10	0.39692	T	0.17	.	19.325	0.94258	0.0:0.0:1.0:0.0	.	4125;4125;4125;4054	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	4125;4054;4125;4054;3990	ENSP00000356224:A4125D;ENSP00000396024:A4054D;ENSP00000265368:A4125D;ENSP00000390975:A4054D;ENSP00000341887:A3990D	ENSP00000265368:A4125D	A	-	2	0	SYNE1	152699823	1.000000	0.71417	0.974000	0.42286	0.509000	0.34042	7.330000	0.79181	2.572000	0.86782	0.655000	0.94253	GCC		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152658130	G	T	152658130	3	4	425	1	0	0	0	0	1	0	0	0	15445	1203	42	3	14376	3	SYNE1	6	152658130	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	63803221	152658130	18456937	37	23282											
SYNE1	23345	genome.wustl.edu	37	6	152777150	152777150	+	Silent	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:152777150C>T	ENST00000367255.5	-	23	3199	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	SYNE1_ENST00000423061.1_Silent_p.K873K|SYNE1_ENST00000413186.2_Silent_p.K866K|SYNE1_ENST00000341594.5_Silent_p.K918K|SYNE1_ENST00000367248.3_Silent_p.K856K|SYNE1_ENST00000265368.4_Silent_p.K866K|SYNE1_ENST00000367253.4_Silent_p.K866K|SYNE1_ENST00000448038.1_Silent_p.K873K|SYNE1_ENST00000495090.2_Silent_p.K433K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	866					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAAGGTTTTCTTACAGTTTT	0.383										HNSCC(10;0.0054)																																						0			6											115	110	112					6																	152777150		2202	4300	6502	152818843	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2598G>A	6.37:g.152777150C>T			152818843	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152777150	C	T	152777150	2	4	425	1	0	0	0	0	0	0	0	1	15445	912	32	2		2	SYNE1	6	152777150	Silent	SNP	C	TCGA-61-1737-01A-01W-0639-09	119020	152777150	18337917	38	23283											
IGF2R	3482	genome.wustl.edu	37	6	160454066	160454066	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:160454066G>T	ENST00000356956.1	+	9	1286	c.1138G>T	c.(1138-1140)Gca>Tca	p.A380S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	380					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AAAACAAGCTGCAGTTTGCCA	0.378																																																0			6											95	93	94					6																	160454066		2203	4300	6503	160374056	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1138G>T	6.37:g.160454066G>T	ENSP00000349437:p.Ala380Ser		160374056	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	8.117	0.780043	0.16120	.	.	ENSG00000197081	ENST00000356956	T	0.03124	4.04	4.81	3.94	0.45596	Mannose-6-phosphate receptor, binding (1);	0.059050	0.64402	D	0.000002	T	0.01835	0.0058	M	0.62088	1.915	0.32775	N	0.503204	P	0.39060	0.657	B	0.39706	0.307	T	0.49031	-0.8981	10	0.23302	T	0.38	-12.2758	6.7872	0.23679	0.0912:0.0:0.6883:0.2205	.	380	P11717	MPRI_HUMAN	S	380	ENSP00000349437:A380S	ENSP00000349437:A380S	A	+	1	0	IGF2R	160374056	0.974000	0.33945	0.044000	0.18714	0.004000	0.04260	2.100000	0.41777	1.167000	0.42706	-0.136000	0.14681	GCA		0.378	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160454066	G	T	160454066	3	4	425	1	0	0	0	0	1	0	0	0	7576	1319	46	3	1172	3	IGF2R	6	160454066	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	7676916	160454066	10661001	39	23284											
ZNF3	7551	genome.wustl.edu	37	7	99669552	99669552	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr7:99669552G>A	ENST00000424697.1	-	6	861	c.555C>T	c.(553-555)tcC>tcT	p.S185S	ZNF3_ENST00000299667.4_Silent_p.S185S|ZNF3_ENST00000303915.6_Silent_p.S185S|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	185					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGATAAGGTTGGAATTCACAG	0.448																																																0			7											110	113	112					7																	99669552		2017	4211	6228	99507488	SO:0001819	synonymous_variant	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.555C>T	7.37:g.99669552G>A			99507488	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	ENST00000424697.1	37	CCDS43619.1																																																																																				0.448	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		A	99669552	G	A	99669552	2	1	425	1	0	0	0	0	0	0	0	1	17829	1335	47	2		2	ZNF3	7	99669552	Silent	SNP	G	TCGA-61-1737-01A-01W-0639-09		99669552	59469111	40	23285											
PTPRZ1	5803	genome.wustl.edu	37	7	121637979	121637979	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr7:121637979C>A	ENST00000393386.2	+	10	1570	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q387K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	387	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTATGTTCTTCAGATAGTAGC	0.363																																																0			7											84	80	81					7																	121637979		2203	4300	6503	121425215	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1159C>A	7.37:g.121637979C>A	ENSP00000377047:p.Gln387Lys		121425215	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920100	0.73098	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.69040	-0.37;-0.37	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.74344	0.3704	L	0.27053	0.805	0.46113	D	0.998874	D;D	0.76494	0.999;0.997	D;D	0.81914	0.995;0.987	T	0.77264	-0.2652	10	0.72032	D	0.01	.	19.4158	0.94697	0.0:1.0:0.0:0.0	.	387;387	C9JFM0;P23471	.;PTPRZ_HUMAN	K	387	ENSP00000377047:Q387K;ENSP00000410000:Q387K	ENSP00000377047:Q387K	Q	+	1	0	PTPRZ1	121425215	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.294000	0.78760	2.598000	0.87819	0.585000	0.79938	CAG		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121637979	C	A	121637979	3	1	425	1	0	0	0	0	1	0	0	0	12817	827	29	3	1197	3	PTPRZ1	7	121637979	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	21968427	121637979	37500684	41	23286											
TNPO3	23534	genome.wustl.edu	37	7	128619104	128619104	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr7:128619104C>A	ENST00000265388.5	-	16	2137	c.1994G>T	c.(1993-1995)tGc>tTc	p.C665F	TNPO3_ENST00000471166.1_Missense_Mutation_p.C699F|TNPO3_ENST00000471234.1_Missense_Mutation_p.C601F|TNPO3_ENST00000393245.1_Missense_Mutation_p.C699F|TNPO3_ENST00000482320.1_Missense_Mutation_p.C599F			Q9Y5L0	TNPO3_HUMAN	transportin 3	665					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAAGCGCAGGCACCTGCAACA	0.493																																					Pancreas(147;583 2585 39696 52331)											0			7											150	139	143					7																	128619104		2203	4300	6503	128406340	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1994G>T	7.37:g.128619104C>A	ENSP00000265388:p.Cys665Phe		128406340	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754843	0.89843	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.68479	-0.2;-0.2;-0.2;-0.33;-0.2	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.996	D;D;D;D	0.73380	0.956;0.959;0.98;0.939	T	0.73668	-0.3910	10	0.36615	T	0.2	.	17.6404	0.88135	0.0:1.0:0.0:0.0	.	601;699;665;665	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	F	699;665;599;601;699	ENSP00000376936:C699F;ENSP00000265388:C665F;ENSP00000420089:C599F;ENSP00000418646:C601F;ENSP00000418267:C699F	ENSP00000265388:C665F	C	-	2	0	TNPO3	128406340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.571000	0.82399	2.779000	0.95612	0.591000	0.81541	TGC		0.493	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		A	128619104	C	A	128619104	3	1	425	1	0	0	0	0	1	0	0	0	16337	710	25	3	805	3	TNPO3	7	128619104	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	6981125	128619104	30519559	42	23287											
UBE3C	9690	genome.wustl.edu	37	7	156971476	156971476	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr7:156971476T>G	ENST00000348165.5	+	6	911	c.551T>G	c.(550-552)gTt>gGt	p.V184G	UBE3C_ENST00000389103.4_Missense_Mutation_p.V141G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	184					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TACTTGCCTGTTTTACAAGAT	0.388																																																0			7											201	174	183					7																	156971476		2203	4300	6503	156664237	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.551T>G	7.37:g.156971476T>G	ENSP00000309198:p.Val184Gly		156664237	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049014	0.55110	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.49139	0.79	5.12	3.98	0.46160	.	0.251532	0.39083	N	0.001466	T	0.42630	0.1211	L	0.56769	1.78	0.80722	D	1	B;B;P	0.45283	0.036;0.066;0.855	B;B;B	0.40702	0.015;0.049;0.338	T	0.23476	-1.0187	10	0.32370	T	0.25	.	10.3456	0.43903	0.0:0.0769:0.0:0.9231	.	184;184;141	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	G	184;141	ENSP00000309198:V184G	ENSP00000309198:V184G	V	+	2	0	UBE3C	156664237	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.408000	0.59761	0.821000	0.34540	0.482000	0.46254	GTT		0.388	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		G	156971476	T	G	156971476	3	3	425	1	0	0	0	0	1	0	0	0	16881	1725	60	5	573	5	UBE3C	7	156971476	Missense_Mutation	SNP	T	TCGA-61-1737-01A-01W-0639-09	28352372	156971476	2167187	43	23288											
CHD7	55636	genome.wustl.edu	37	8	61714136	61714136	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:61714136G>A	ENST00000423902.2	+	6	2905	c.2426G>A	c.(2425-2427)cGt>cAt	p.R809H	CHD7_ENST00000525508.1_Missense_Mutation_p.R809H|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	809	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATGAGCAGTCGTTCAGTAAAA	0.363																																																1	Insertion - In frame(1)	lung(1)	8											67	60	62					8																	61714136		1831	4077	5908	61876690	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2426G>A	8.37:g.61714136G>A	ENSP00000392028:p.Arg809His		61876690	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979148	0.92982	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	T;T	0.78816	-1.21;-1.21	6.17	6.17	0.99709	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91392	0.5136	10	0.87932	D	0	-11.5809	20.8794	0.99867	0.0:0.0:1.0:0.0	.	809	Q9P2D1	CHD7_HUMAN	H	809	ENSP00000392028:R809H;ENSP00000436027:R809H	ENSP00000307304:R809H	R	+	2	0	CHD7	61876690	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.571000	0.90752	2.941000	0.99782	0.655000	0.94253	CGT		0.363	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61714136	G	A	61714136	3	1	425	1	0	0	0	0	1	0	0	0	3330	1145	40	1	2444	1	CHD7	8	61714136	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09		61714136	84649886	44	23289											
RNF19A	25897	genome.wustl.edu	37	8	101300147	101300147	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:101300147C>A	ENST00000519449.1	-	3	572	c.256G>T	c.(256-258)Ggc>Tgc	p.G86C	RNF19A_ENST00000341084.2_Missense_Mutation_p.G86C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	86					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCCACCCCGCCATTTAGCTCC	0.378																																																0			8											144	138	140					8																	101300147		2203	4300	6503	101369323	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.256G>T	8.37:g.101300147C>A	ENSP00000428968:p.Gly86Cys		101369323	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068811	0.55539	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167;ENST00000522369;ENST00000432381;ENST00000517584	D;D	0.84442	-1.85;-1.85	5.57	4.68	0.58851	.	0.296018	0.36628	N	0.002491	T	0.77103	0.4081	L	0.27053	0.805	0.46222	D	0.998935	P	0.50369	0.934	B	0.40901	0.343	T	0.81320	-0.0986	10	0.72032	D	0.01	.	13.8459	0.63468	0.0:0.9272:0.0:0.0728	.	86	Q9NV58	RN19A_HUMAN	C	86;86;86;86;86;86;55	ENSP00000428968:G86C;ENSP00000342667:G86C	ENSP00000342667:G86C	G	-	1	0	RNF19A	101369323	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.063000	0.57499	2.606000	0.88127	0.650000	0.86243	GGC		0.378	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		A	101300147	C	A	101300147	3	1	425	1	0	0	0	0	1	0	0	0	13473	594	21	3	2296	3	RNF19A	8	101300147	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	39586011	101300147	45063875	45	23290											
COL14A1	7373	genome.wustl.edu	37	8	121259883	121259883	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:121259883G>A	ENST00000297848.3	+	21	2781	c.2511G>A	c.(2509-2511)gtG>gtA	p.V837V	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.V742V|COL14A1_ENST00000309791.4_Silent_p.V837V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACTTGCGGGTGTCCGAGGAAT	0.478																																																0			8											82	72	75					8																	121259883		2203	4300	6503	121329064	SO:0001819	synonymous_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2511G>A	8.37:g.121259883G>A			121329064		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																				0.478	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121259883	G	A	121259883	2	1	425	1	0	0	0	0	0	0	0	1	3671	1364	48	2		2	COL14A1	8	121259883	Silent	SNP	G	TCGA-61-1737-01A-01W-0639-09	19959736	121259883	25104139	46	23291											
ADCY8	114	genome.wustl.edu	37	8	131859739	131859739	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:131859739C>G	ENST00000286355.5	-	11	4525	c.2433G>C	c.(2431-2433)aaG>aaC	p.K811N	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	811					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGGTATCGACTTGTCAAAAT	0.393										HNSCC(32;0.087)																																						0			8											67	67	67					8																	131859739		2203	4300	6503	131928921	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2433G>C	8.37:g.131859739C>G	ENSP00000286355:p.Lys811Asn		131928921		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835646	0.32421	.	.	ENSG00000155897	ENST00000286355	T	0.45276	0.9	5.9	5.03	0.67393	.	0.225081	0.46442	D	0.000299	T	0.30008	0.0751	L	0.34521	1.04	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.08764	-1.0706	10	0.17832	T	0.49	.	10.5556	0.45114	0.0:0.8382:0.0:0.1618	.	811	P40145	ADCY8_HUMAN	N	811	ENSP00000286355:K811N	ENSP00000286355:K811N	K	-	3	2	ADCY8	131928921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.498000	0.35660	1.509000	0.48786	0.655000	0.94253	AAG		0.393	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			G	131859739	C	G	131859739	3	3	425	1	0	0	0	0	1	0	0	0	300	564	20	3	1354	3	ADCY8	8	131859739	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	10599856	131859739	14504283	47	23292											
CYP11B1	1584	genome.wustl.edu	37	8	143960475	143960475	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:143960475C>T	ENST00000292427.4	-	2	400	c.368G>A	c.(367-369)cGt>cAt	p.R123H	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R168H|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R123H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	123					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TTTGTGCCCACGATGTTGTCT	0.632									Familial Hyperaldosteronism type I																																							0			8											187	136	153					8																	143960475		2203	4300	6503	143957477	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.368G>A	8.37:g.143960475C>T	ENSP00000292427:p.Arg123His		143957477	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.10	3.304011	0.60305	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.69435	-0.37;2.67;-0.4	3.66	2.65	0.31530	.	0.145050	0.31963	N	0.006787	T	0.70876	0.3274	M	0.81179	2.53	0.21652	N	0.999603	P;P;P	0.47191	0.792;0.891;0.691	B;P;B	0.50352	0.308;0.638;0.284	T	0.62539	-0.6833	10	0.49607	T	0.09	.	6.308	0.21149	0.0:0.8255:0.0:0.1745	.	168;123;123	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	H	123;123;168	ENSP00000292427:R123H;ENSP00000428043:R123H;ENSP00000366903:R168H	ENSP00000292427:R123H	R	-	2	0	CYP11B1	143957477	0.072000	0.21174	0.002000	0.10522	0.947000	0.59692	1.233000	0.32648	0.526000	0.28541	0.561000	0.74099	CGT		0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143960475	C	T	143960475	3	4	425	1	0	0	0	0	1	0	0	0	4145	536	19	1	1175	1	CYP11B1	8	143960475	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	12100736	143960475	2403547	48	23293											
C9orf95	54981	genome.wustl.edu	37	9	77692483	77692494	+	In_Frame_Del	DEL	CACTGTTTGTCA	CACTGTTTGTCA	-	rs199562641		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	CACTGTTTGTCA	CACTGTTTGTCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr9:77692483_77692494delCACTGTTTGTCA	ENST00000361092.4	-	3	268_279	c.32_43delTGACAAACAGTG	c.(31-45)gtgacaaacagtggc>ggc	p.VTNS11del	NMRK1_ENST00000376811.1_In_Frame_Del_p.VTNS15del|NMRK1_ENST00000376808.4_In_Frame_Del_p.VTNS11del	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	11					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										GTTGTTTTGCCACTGTTTGTCACACTGAAGCA	0.349																																																0			9																																								76882314	SO:0001651	inframe_deletion	54981			AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"chromosome 9 open reading frame 95"	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.32_43delTGACAAACAGTG	9.37:g.77692483_77692494delCACTGTTTGTCA	ENSP00000354387:p.Val11_Ser14del		76882303	Q5W124|Q8N430	In_Frame_Del	DEL	ENST00000361092.4	37	CCDS6650.1																																																																																				0.349	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		-	77692494	CACTGTTTGTCA	-	77692483	7	5	425	1	0	1	0	1	0	0	0	0	2507	594	21	0	584	0	C9orf95	9	77692483	In_Frame_Del	DEL	CACTGTTTGTCA	TCGA-61-1737-01A-01W-0639-09		77692483	63520948	49	23294											
GARNL3	84253	genome.wustl.edu	37	9	130155492	130155492	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr9:130155492C>G	ENST00000373387.4	+	28	3353	c.3001C>G	c.(3001-3003)Ctc>Gtc	p.L1001V	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.L979V	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	1001					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.L983I(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CCCCTTCCAGCTCACGGCTTT	0.507																																																1	Substitution - Missense(1)	large_intestine(1)	9											64	73	70					9																	130155492		2203	4300	6503	129195313	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.3001C>G	9.37:g.130155492C>G	ENSP00000362485:p.Leu1001Val		129195313	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957129	0.34565	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.90069	-2.59;-2.61	5.73	5.73	0.89815	.	0.354654	0.31415	N	0.007687	T	0.81307	0.4795	N	0.24115	0.695	0.80722	D	1	B;B	0.32302	0.363;0.363	B;B	0.31946	0.138;0.138	T	0.77643	-0.2511	9	.	.	.	.	13.7631	0.62979	0.1536:0.8464:0.0:0.0	.	1001;979	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	V	979;1001	ENSP00000396205:L979V;ENSP00000362485:L1001V	.	L	+	1	0	GARNL3	129195313	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	3.285000	0.51716	2.854000	0.98071	0.655000	0.94253	CTC		0.507	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		G	130155492	C	G	130155492	3	3	425	1	0	0	0	0	1	0	0	0	6241	797	28	3	3111	3	GARNL3	9	130155492	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	52463009	130155492	11057939	50	23295											
FAM21B	387680	genome.wustl.edu	37	10	47935538	47935538	+	Silent	SNP	A	A	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:47935538A>G	ENST00000358474.5	+	21	2082	c.2082A>G	c.(2080-2082)ttA>ttG	p.L694L		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		694					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTCTGATTTATTTTCTTCAT	0.368																																																0			10											0	1	1					10																	47935538		0	15	15	47455544	SO:0001819	synonymous_variant	55747																														ENST00000358474.5:c.2082A>G	10.37:g.47935538A>G			47455544		Silent	SNP	ENST00000358474.5	37	CCDS44379.1																																																																																				0.368	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			G	47935538	A	G	47935538	2	3	425	1	0	0	0	0	0	0	0	1	5541	446	16	4		4	FAM21B	10	47935538	Silent	SNP	A	TCGA-61-1737-01A-01W-0639-09		47935538	87599209	51	23296											
TET1	80312	genome.wustl.edu	37	10	70442637	70442637	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:70442637G>A	ENST00000373644.4	+	10	5168	c.4959G>A	c.(4957-4959)aaG>aaA	p.K1653K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1653					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTGGCAGCAAGGAAGGTCGTC	0.473																																																0			10											126	112	117					10																	70442637		2203	4300	6503	70112643	SO:0001819	synonymous_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4959G>A	10.37:g.70442637G>A			70112643	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.473	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		A	70442637	G	A	70442637	2	1	425	1	0	0	0	0	0	0	0	1	15769	991	35	2		2	TET1	10	70442637	Silent	SNP	G	TCGA-61-1737-01A-01W-0639-09	22507099	70442637	65092110	52	23297											
HKDC1	80201	genome.wustl.edu	37	10	71026381	71026381	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:71026381G>A	ENST00000354624.5	+	18	2755	c.2622G>A	c.(2620-2622)ttG>ttA	p.L874L	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	874	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTAGAATATTGCAGGAAACTG	0.403																																																0			10											127	123	124					10																	71026381		2203	4300	6503	70696387	SO:0001819	synonymous_variant	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2622G>A	10.37:g.71026381G>A			70696387	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	CCDS7288.1																																																																																				0.403	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		A	71026381	G	A	71026381	2	1	425	1	0	0	0	0	0	0	0	1	7193	1310	46	2		2	HKDC1	10	71026381	Silent	SNP	G	TCGA-61-1737-01A-01W-0639-09	583744	71026381	64508366	53	23298											
PTEN	5728	genome.wustl.edu	37	10	89712010	89712034	+	Splice_Site	DEL	ACTTGCAGTAAGTGCTTGAAATTCT	ACTTGCAGTAAGTGCTTGAAATTCT	-	rs138336847|rs121909232		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	ACTTGCAGTAAGTGCTTGAAATTCT	ACTTGCAGTAAGTGCTTGAAATTCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:89712010_89712034delACTTGCAGTAAGTGCTTGAAATTCT	ENST00000371953.3	+	6	1985_1991	c.628_634delACTTGCAGTAAGTGCTTGAAATTCT	c.(628-636)acttgcagt>gt	p.TCS210fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	210	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(15)|p.R55fs*1(5)|p.G165fs*9(3)|p.Y27fs*1(2)|p.C211Y(1)|p.G165_*404del(1)|p.C211*(1)|p.C211fs*32(1)|p.C211fs*11(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTGGCGGAACTTGCAGTAAGTGCTTGAAATTCTCATCCTTCCA	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	67	Whole gene deletion(37)|Unknown(15)|Deletion - Frameshift(10)|Insertion - Frameshift(2)|Deletion - In frame(1)|Substitution - Nonsense(1)|Substitution - Missense(1)	central_nervous_system(17)|prostate(16)|skin(12)|endometrium(5)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10	GRCh37	CI004544|CM014085|CS010097|CS043793|CS991491	PTEN	I|M|S	rs121909232|rs138336847																																			89702014	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.634+1ACTTGCAGTAAGTGCTTGAAATTCT>-	10.37:g.89712010_89712034delACTTGCAGTAAGTGCTTGAAATTCT			89701990	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Frame_Shift_Del	-	89712034	ACTTGCAGTAAGTGCTTGAAATTCT	-	89712010	8	5	425	1	0	1	0	1	0	0	1	0	12741	43	2	0	650	0	PTEN	10	89712010	Splice_Site	DEL	ACTTGCAGTAAGTGCTTGAAATTCT	TCGA-61-1737-01A-01W-0639-09	18685629	89712010	45822737	54	23299											
SUFU	51684	genome.wustl.edu	37	10	104359295	104359295	+	Missense_Mutation	SNP	G	G	C	rs369910221		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:104359295G>C	ENST00000369902.3	+	8	1182	c.1016G>C	c.(1015-1017)cGg>cCg	p.R339P	SUFU_ENST00000369899.2_Missense_Mutation_p.R339P|SUFU_ENST00000423559.2_Missense_Mutation_p.R339P|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	339					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCCCACGACCGGGCCCCGTAA	0.572			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0			10											60	58	59					10																	104359295		2203	4300	6503	104349285	SO:0001583	missense	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1016G>C	10.37:g.104359295G>C	ENSP00000358918:p.Arg339Pro		104349285	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228538	0.95173	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.65916	-0.16;-0.17;-0.18	6.07	6.07	0.98685	Suppressor of fused C-terminal (1);	0.052063	0.85682	D	0.000000	T	0.76912	0.4054	L	0.51422	1.61	0.58432	D	0.999998	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.87578	0.995;0.991;0.998	T	0.74529	-0.3635	10	0.51188	T	0.08	-23.3813	20.6439	0.99570	0.0:0.0:1.0:0.0	.	339;339;339	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	P	339	ENSP00000358918:R339P;ENSP00000358915:R339P;ENSP00000411597:R339P	ENSP00000358915:R339P	R	+	2	0	SUFU	104349285	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.281000	0.95811	2.884000	0.98904	0.655000	0.94253	CGG		0.572	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		C	104359295	G	C	104359295	3	2	425	1	0	0	0	0	1	0	0	0	15370	1116	39	3	1046	3	SUFU	10	104359295	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	14647285	104359295	31175452	55	23300											
MUC15	143662	genome.wustl.edu	37	11	26582640	26582640	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:26582640T>C	ENST00000455601.2	-	4	1095	c.977A>G	c.(976-978)gAc>gGc	p.D326G	MUC15_ENST00000529533.1_Missense_Mutation_p.D353G|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.D303G|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.D303G|MUC15_ENST00000436318.2_Missense_Mutation_p.D353G|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	326					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TGGAGGTATGTCATCCATAGG	0.393																																																0			11											197	178	184					11																	26582640		2203	4300	6503	26539216	SO:0001583	missense	143662			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.977A>G	11.37:g.26582640T>C	ENSP00000397339:p.Asp326Gly		26539216	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.472091	0.63737	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.31769	1.51;1.48;1.5;1.48;1.5	5.33	2.98	0.34508	.	0.393988	0.20851	N	0.084536	T	0.35038	0.0918	L	0.29908	0.895	0.26624	N	0.972593	D;D;D	0.67145	0.996;0.985;0.985	P;P;P	0.62491	0.903;0.833;0.833	T	0.09079	-1.0691	10	0.52906	T	0.07	-22.0025	7.2981	0.26405	0.0:0.0785:0.1514:0.7702	.	303;326;353	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	G	326;353;303;353;303	ENSP00000397339:D326G;ENSP00000416753:D353G;ENSP00000281268:D303G;ENSP00000431983:D353G;ENSP00000431945:D303G	ENSP00000281268:D303G	D	-	2	0	MUC15	26539216	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	1.775000	0.38584	0.412000	0.25729	0.482000	0.46254	GAC		0.393	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		C	26582640	T	C	26582640	3	2	425	1	0	0	0	0	1	0	0	0	9972	1667	58	4	31	4	MUC15	11	26582640	Missense_Mutation	SNP	T	TCGA-61-1737-01A-01W-0639-09		26582640	108423876	56	23301											
TCN1	6947	genome.wustl.edu	37	11	59626726	59626726	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:59626726C>T	ENST00000257264.3	-	5	675	c.571G>A	c.(571-573)Gct>Act	p.A191T	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	191	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCAGGACAGCCATTGCACCA	0.448																																																0			11											151	134	140					11																	59626726		2201	4295	6496	59383302	SO:0001583	missense	6947			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.571G>A	11.37:g.59626726C>T	ENSP00000257264:p.Ala191Thr		59383302	A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077297	0.76415	.	.	ENSG00000134827	ENST00000257264	T	0.55760	0.5	4.92	3.99	0.46301	.	0.114022	0.37261	N	0.002177	T	0.70596	0.3242	M	0.80746	2.51	0.28555	N	0.911429	D	0.89917	1.0	D	0.97110	1.0	T	0.66160	-0.5993	10	0.62326	D	0.03	.	9.9111	0.41406	0.0:0.9028:0.0:0.0972	.	191	P20061	TCO1_HUMAN	T	191	ENSP00000257264:A191T	ENSP00000257264:A191T	A	-	1	0	TCN1	59383302	0.999000	0.42202	0.961000	0.40146	0.825000	0.46686	1.605000	0.36815	1.182000	0.42928	0.650000	0.86243	GCT		0.448	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		T	59626726	C	T	59626726	3	4	425	1	0	0	0	0	1	0	0	0	15706	739	26	2	750	2	TCN1	11	59626726	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	33044086	59626726	75379790	57	23302											
MS4A8B	83661	genome.wustl.edu	37	11	60470888	60470888	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:60470888T>G	ENST00000300226.2	+	3	460	c.257T>G	c.(256-258)cTc>cGc	p.L86R		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	86						integral component of membrane (GO:0016021)											CACATCGGCCTCGGCTCCATC	0.552																																																0			11											130	118	122					11																	60470888		2203	4300	6503	60227464	SO:0001583	missense	83661			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.257T>G	11.37:g.60470888T>G	ENSP00000300226:p.Leu86Arg		60227464	Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.63|12.63	1.994410|1.994410	0.35226|0.35226	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000300226;ENST00000529752|ENST00000525458	T;T|.	0.03920|.	3.76;3.76|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.699661|.	0.14036|.	N|.	0.345746|.	T|T	0.73079|0.73079	0.3541|0.3541	M|M	0.83852|0.83852	2.665|2.665	0.39289|0.39289	D|D	0.964705|0.964705	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.75020|.	0.985;0.964|.	T|T	0.75892|0.75892	-0.3157|-0.3157	10|5	0.72032|.	D|.	0.01|.	-4.6775|-4.6775	8.9088|8.9088	0.35541|0.35541	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	86;86|.	E9PQE1;Q9BY19|.	.;M4A8B_HUMAN|.	R|A	86|68	ENSP00000300226:L86R;ENSP00000436857:L86R|.	ENSP00000300226:L86R|.	L|S	+|+	2|1	0|0	MS4A8B|MS4A8B	60227464|60227464	0.027000|0.027000	0.19231|0.19231	0.883000|0.883000	0.34634|0.34634	0.079000|0.079000	0.17450|0.17450	3.006000|3.006000	0.49529|0.49529	1.425000|1.425000	0.47237|0.47237	0.402000|0.402000	0.26972|0.26972	CTC|TCG		0.552	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			G	60470888	T	G	60470888	3	3	425	1	0	0	0	0	1	0	0	0	9867	1551	54	5	263	5	MS4A8B	11	60470888	Missense_Mutation	SNP	T	TCGA-61-1737-01A-01W-0639-09	844162	60470888	74535628	58	23303											
SLC22A9	114571	genome.wustl.edu	37	11	63137904	63137904	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:63137904T>A	ENST00000279178.3	+	1	625	c.376T>A	c.(376-378)Tcc>Acc	p.S126T	SLC22A9_ENST00000310969.4_Missense_Mutation_p.S126T	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	126					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGACAGAATCTCCTTCTCATC	0.493																																																0			11											117	98	105					11																	63137904		2201	4298	6499	62894480	SO:0001583	missense	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.376T>A	11.37:g.63137904T>A	ENSP00000279178:p.Ser126Thr		62894480	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	T	0.425	-0.906381	0.02453	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.75260	-0.92;-0.92	3.48	-5.08	0.02929	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.299750	0.05156	N	0.496870	T	0.59891	0.2227	L	0.38649	1.16	0.09310	N	1	B	0.19331	0.035	B	0.28305	0.088	T	0.45454	-0.9260	10	0.12430	T	0.62	.	6.7808	0.23643	0.6749:0.0:0.1322:0.1929	.	126	Q8IVM8	S22A9_HUMAN	T	126	ENSP00000311527:S126T;ENSP00000279178:S126T	ENSP00000279178:S126T	S	+	1	0	SLC22A9	62894480	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-1.926000	0.01562	-0.688000	0.05155	0.113000	0.15668	TCC		0.493	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		A	63137904	T	A	63137904	3	1	425	1	0	0	0	0	1	0	0	0	14464	1551	54	5	378	5	SLC22A9	11	63137904	Missense_Mutation	SNP	T	TCGA-61-1737-01A-01W-0639-09	2667016	63137904	71868612	59	23304											
MLL	4297	genome.wustl.edu	37	11	118345001	118345001	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:118345001C>G	ENST00000389506.5	+	3	3127	c.3127C>G	c.(3127-3129)Ctt>Gtt	p.L1043V	KMT2A_ENST00000354520.4_Missense_Mutation_p.L1043V|KMT2A_ENST00000534358.1_Missense_Mutation_p.L1043V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1043					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAGTAAGAGTCTTAAACAAAC	0.453																																																0			11											65	65	65					11																	118345001		2200	4296	6496	117850211	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3127C>G	11.37:g.118345001C>G	ENSP00000374157:p.Leu1043Val		117850211	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806698	0.50421	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000527869;ENST00000533790;ENST00000389507	D;T;D;D	0.86030	-2.05;1.42;-2.06;-2.05	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	D	0.90559	0.7041	L	0.59436	1.845	0.58432	D	0.999995	D;D;D	0.76494	0.983;0.999;0.983	D;P;D	0.63381	0.914;0.883;0.914	D	0.90589	0.4535	10	0.56958	D	0.05	.	19.4359	0.94794	0.0:1.0:0.0:0.0	.	1043;1043;1076	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	V	1043;1076;1043;1043;154;121;63	ENSP00000436786:L1043V;ENSP00000432391:L1076V;ENSP00000374157:L1043V;ENSP00000346516:L1043V	ENSP00000346516:L1043V	L	+	1	0	MLL	117850211	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.908000	0.56355	2.588000	0.87417	0.591000	0.81541	CTT		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		G	118345001	C	G	118345001	3	3	425	1	0	0	0	0	1	0	0	0	9620	913	32	3	3137	3	MLL	11	118345001	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	55207097	118345001	16661515	60	23305											
GRIN2B	2904	genome.wustl.edu	37	12	13768503	13768503	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr12:13768503G>T	ENST00000609686.1	-	6	1633	c.1424C>A	c.(1423-1425)aCc>aAc	p.T475N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	475					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGGTCATAGGTGAACTTCAC	0.428																																																0			12											174	186	182					12																	13768503		2203	4300	6503	13659770	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1424C>A	12.37:g.13768503G>T	ENSP00000477455:p.Thr475Asn		13659770	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085637	0.94100	.	.	ENSG00000150086	ENST00000279593	T	0.52057	0.68	6.02	6.02	0.97574	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63292	-0.6670	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	475	Q13224	NMDE2_HUMAN	N	475	ENSP00000279593:T475N	ENSP00000279593:T475N	T	-	2	0	GRIN2B	13659770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.863000	0.99569	2.850000	0.98022	0.650000	0.86243	ACC		0.428	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13768503	G	T	13768503	3	4	425	1	0	0	0	0	1	0	0	0	6780	1261	44	3	3062	3	GRIN2B	12	13768503	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09		13768503	120083392	61	23306											
TM9SF2	9375	genome.wustl.edu	37	13	100181837	100181837	+	Silent	SNP	T	T	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr13:100181837T>C	ENST00000376387.4	+	4	640	c.450T>C	c.(448-450)taT>taC	p.Y150Y	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	150					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TATTGAATTATCAACATCACT	0.308																																																0			13											97	101	99					13																	100181837		2202	4294	6496	98979838	SO:0001819	synonymous_variant	9375			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.450T>C	13.37:g.100181837T>C			98979838	A8K399|Q2TAY5	Silent	SNP	ENST00000376387.4	37	CCDS9493.1																																																																																				0.308	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			C	100181837	T	C	100181837	2	2	425	1	0	0	0	0	0	0	0	1	15978	1442	50	4		4	TM9SF2	13	100181837	Silent	SNP	T	TCGA-61-1737-01A-01W-0639-09		100181837	14988041	62	23307											
ZIC5	85416	genome.wustl.edu	37	13	100617732	100617732	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr13:100617732C>T	ENST00000267294.4	-	2	2124	c.1891G>A	c.(1891-1893)Gcc>Acc	p.A631T		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	631					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCTGGGGGCCCCACTGGCC	0.582																																																0			13											78	76	77					13																	100617732		2203	4300	6503	99415733	SO:0001583	missense	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1891G>A	13.37:g.100617732C>T	ENSP00000267294:p.Ala631Thr		99415733	Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619779	0.66787	.	.	ENSG00000139800	ENST00000267294	T	0.11712	2.75	6.06	5.21	0.72293	.	.	.	.	.	T	0.12305	0.0299	L	0.46157	1.445	0.39813	D	0.972736	B	0.22346	0.068	B	0.18561	0.022	T	0.03043	-1.1079	9	0.46703	T	0.11	.	14.4763	0.67548	0.0:0.9295:0.0:0.0705	.	631	Q96T25	ZIC5_HUMAN	T	631	ENSP00000267294:A631T	ENSP00000267294:A631T	A	-	1	0	ZIC5	99415733	0.841000	0.29509	1.000000	0.80357	0.985000	0.73830	1.863000	0.39459	2.871000	0.98454	0.655000	0.94253	GCC		0.582	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		T	100617732	C	T	100617732	3	4	425	1	0	0	0	0	1	0	0	0	17682	739	26	2	104	2	ZIC5	13	100617732	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	435895	100617732	14552146	63	23308											
SYNE2	23224	genome.wustl.edu	37	14	64689991	64689991	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr14:64689991G>A	ENST00000344113.4	+	112	20418	c.20206G>A	c.(20206-20208)Gga>Aga	p.G6736R	SYNE2_ENST00000358025.3_Missense_Mutation_p.G6759R|SYNE2_ENST00000554805.1_Missense_Mutation_p.G519R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.G3121R|SYNE2_ENST00000555022.1_Missense_Mutation_p.G614R|SYNE2_ENST00000394768.2_Missense_Mutation_p.G3121R|SYNE2_ENST00000554584.1_Missense_Mutation_p.G6652R|SYNE2_ENST00000555002.1_Missense_Mutation_p.G3393R|SYNE2_ENST00000441438.2_Missense_Mutation_p.G281R|SYNE2_ENST00000458046.2_Missense_Mutation_p.G407R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6736					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAGGGACATGGAGAAGACTG	0.428																																																0			14											101	97	98					14																	64689991		2203	4300	6503	63759744	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20206G>A	14.37:g.64689991G>A	ENSP00000341781:p.Gly6736Arg		63759744	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	8.328	0.825929	0.16749	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.83	3.0	0.34707	.	0.271361	0.25383	N	0.031064	T	0.53158	0.1779	M	0.64080	1.96	0.80722	D	1	P;D;P;P;B;B;D;D	0.63046	0.916;0.987;0.914;0.468;0.377;0.145;0.969;0.992	B;D;P;B;B;B;P;D	0.66847	0.263;0.945;0.449;0.323;0.347;0.062;0.823;0.947	T	0.55321	-0.8159	10	0.72032	D	0.01	.	11.8228	0.52250	0.1936:0.0:0.8064:0.0	.	393;3121;281;407;1138;6652;6736;6759	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	R	6759;3121;6736;6652;6658;3393;3121;614;519;407;281	ENSP00000350719:G6759R;ENSP00000349969:G3121R;ENSP00000341781:G6736R;ENSP00000452570:G6652R;ENSP00000450831:G3393R;ENSP00000378249:G3121R;ENSP00000451009:G614R;ENSP00000450605:G519R;ENSP00000391937:G407R;ENSP00000396794:G281R	ENSP00000261678:G6658R	G	+	1	0	SYNE2	63759744	0.996000	0.38824	0.147000	0.22382	0.073000	0.16967	2.334000	0.43920	0.817000	0.34445	0.655000	0.94253	GGA		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64689991	G	A	64689991	3	1	425	1	0	0	0	0	1	0	0	0	15446	1349	47	2	20763	2	SYNE2	14	64689991	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09		64689991	42659549	64	23309											
CPSF2	53981	genome.wustl.edu	37	14	92600683	92600683	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr14:92600683G>A	ENST00000298875.4	+	5	684	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	133					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATTCTCTCAGATTGTGAATT	0.328																																					Ovarian(78;28 1788 18702 44111)											0			14											60	57	58					14																	92600683		2201	4299	6500	91670436	SO:0001819	synonymous_variant	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.399G>A	14.37:g.92600683G>A			91670436	B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	37	CCDS9902.1																																																																																				0.328	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			A	92600683	G	A	92600683	2	1	425	1	0	0	0	0	0	0	0	1	3825	933	33	2		2	CPSF2	14	92600683	Silent	SNP	G	TCGA-61-1737-01A-01W-0639-09	27910692	92600683	14748857	65	23310											
CNOT1	23019	genome.wustl.edu	37	16	58589155	58589155	+	Splice_Site	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr16:58589155C>G	ENST00000317147.5	-	21	3223	c.2891G>C	c.(2890-2892)aGa>aCa	p.R964T	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Splice_Site_p.R964T|CNOT1_ENST00000569240.1_Splice_Site_p.R959T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	964	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCCACTTACCTGTTTTTAAA	0.473																																																0			16											73	73	73					16																	58589155		2198	4300	6498	57146656	SO:0001630	splice_region_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2891+1G>C	16.37:g.58589155C>G			57146656	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186638	0.94885	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.61274	0.27;0.12	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81230	0.4779	M	0.89353	3.025	0.80722	D	1	D;D;D	0.76494	0.981;0.999;0.999	D;D;D	0.76071	0.962;0.922;0.987	T	0.82524	-0.0414	9	.	.	.	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	964;964;959	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	T	964;393;959;964	ENSP00000320949:R964T;ENSP00000413113:R964T	.	R	-	2	0	CNOT1	57146656	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	AGA		0.473	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	Missense_Mutation	G	58589155	C	G	58589155	5	3	425	1	0	0	0	0	0	0	1	0	3617	695	24	3	4577	3	CNOT1	16	58589155	Splice_Site	SNP	C	TCGA-61-1737-01A-01W-0639-09		58589155	31765598	66	23311											
TP53	7157	genome.wustl.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr17:7577097C>A	ENST00000269305.4	-	8	1030	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000420246.2_Missense_Mutation_p.D281Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTGCGCCGGTCTCTCCCAGGA	0.547		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"	86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	17	GRCh37	CM076566	TP53	M							80	69	73					17																	7577097		2203	4300	6503	7517822	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.841G>T	17.37:g.7577097C>A	ENSP00000269305:p.Asp281Tyr		7517822	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892841	0.91889	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	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	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	281;281;281;281;281;270;149	ENSP00000352610:D281Y;ENSP00000269305:D281Y;ENSP00000398846:D281Y;ENSP00000391127:D281Y;ENSP00000391478:D281Y;ENSP00000425104:D149Y	ENSP00000269305:D281Y	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577097	C	A	7577097	3	1	425	1	0	0	0	0	1	0	0	0	16381	913	32	3	445	3	TP53	17	7577097	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09		7577097	73618113	67	23312											
ZNF18	7566	genome.wustl.edu	37	17	11894352	11894352	+	Silent	SNP	T	T	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr17:11894352T>G	ENST00000322748.3	-	5	1120	c.516A>C	c.(514-516)tcA>tcC	p.S172S	ZNF18_ENST00000454073.3_Silent_p.S172S|ZNF18_ENST00000580306.2_Silent_p.S172S	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	172					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CCCCAGGCCCTGAGGATGAAT	0.512																																																0			17											220	216	217					17																	11894352		2203	4300	6503	11835077	SO:0001819	synonymous_variant	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.516A>C	17.37:g.11894352T>G			11835077	Q5QHQ3|Q8IYC4|Q8NAH6	Silent	SNP	ENST00000322748.3	37	CCDS32568.1																																																																																				0.512	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		G	11894352	T	G	11894352	2	3	425	1	0	0	0	0	0	0	0	1	17747	1567	55	5		5	ZNF18	17	11894352	Silent	SNP	T	TCGA-61-1737-01A-01W-0639-09	4317255	11894352	69300858	68	23313											
HOOK2	29911	genome.wustl.edu	37	19	12875679	12875679	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:12875679G>A	ENST00000397668.3	-	20	1849	c.1776C>T	c.(1774-1776)gaC>gaT	p.D592D	HOOK2_ENST00000264827.5_Silent_p.D590D|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	592	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGGCCCGCAAGTCCGCGTCCT	0.632											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											81	85	84					19																	12875679		2054	4189	6243	12736679	SO:0001819	synonymous_variant	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1776C>T	19.37:g.12875679G>A		683	12736679	O60562	Silent	SNP	ENST00000397668.3	37	CCDS42508.1																																																																																				0.632	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		A	12875679	G	A	12875679	2	1	425	1	0	0	0	0	0	0	0	1	7283	1020	36	2		2	HOOK2	19	12875679	Silent	SNP	G	TCGA-61-1737-01A-01W-0639-09		12875679	46253304	69	23314											
SPTBN4	57731	genome.wustl.edu	37	19	41003477	41003477	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:41003477G>T	ENST00000352632.3	+	7	836	c.750G>T	c.(748-750)caG>caT	p.Q250H	SPTBN4_ENST00000344104.3_Missense_Mutation_p.Q250H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.Q250H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.Q250H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.Q250H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	250	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCTGAGCAGCACCTGGGGC	0.627																																																0			19											85	77	80					19																	41003477		2203	4300	6503	45695317	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.750G>T	19.37:g.41003477G>T	ENSP00000263373:p.Gln250His		45695317	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420556	0.42918	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.59638	0.25;0.25;0.25	3.92	2.87	0.33458	Calponin homology domain (5);	0.230513	0.28409	U	0.015444	T	0.56217	0.1970	L	0.35341	1.055	0.80722	D	1	D;P	0.61697	0.99;0.845	P;P	0.58266	0.836;0.524	T	0.51810	-0.8658	10	0.37606	T	0.19	.	8.159	0.31187	0.2025:0.0:0.7975:0.0	.	250;250	Q9H254;Q71S06	SPTN4_HUMAN;.	H	250	ENSP00000263373:Q250H;ENSP00000340345:Q250H;ENSP00000340741:Q250H	ENSP00000340345:Q250H	Q	+	3	2	SPTBN4	45695317	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.345000	0.44018	0.857000	0.35407	0.460000	0.39030	CAG		0.627	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41003477	G	T	41003477	3	4	425	1	0	0	0	0	1	0	0	0	15123	962	34	3	772	3	SPTBN4	19	41003477	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	28127798	41003477	18125506	70	23315											
PSG5	5673	genome.wustl.edu	37	19	43679401	43679401	+	Silent	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:43679401C>T	ENST00000366175.3	-	4	1060	c.930G>A	c.(928-930)aaG>aaA	p.K310K	PSG5_ENST00000404580.1_Silent_p.K310K|PSG5_ENST00000342951.6_Silent_p.K310K|PSG5_ENST00000599812.1_Silent_p.K403K|PSG5_ENST00000407356.1_Silent_p.K310K|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	310	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGGAGCTTTCCTTGCCAGTAG	0.463																																																0			19											115	141	132					19																	43679401		2202	4293	6495	48371241	SO:0001819	synonymous_variant	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.930G>A	19.37:g.43679401C>T			48371241	Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	CCDS12617.1																																																																																				0.463	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		T	43679401	C	T	43679401	2	4	425	1	0	0	0	0	0	0	0	1	12661	680	24	2		2	PSG5	19	43679401	Silent	SNP	C	TCGA-61-1737-01A-01W-0639-09	2675924	43679401	15449582	71	23316											
FOSB	2354	genome.wustl.edu	37	19	45976226	45976226	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:45976226C>A	ENST00000353609.3	+	4	1565	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	FOSB_ENST00000591858.1_Missense_Mutation_p.Q286K|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000443841.2_Missense_Mutation_p.Q182K|FOSB_ENST00000585836.1_Missense_Mutation_p.Q250K|FOSB_ENST00000586615.1_Missense_Mutation_p.Q276K|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000417353.2_Missense_Mutation_p.Q289K|FOSB_ENST00000592811.1_3'UTR	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	325					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGGCAGTGACCAGCCTTCCGA	0.582																																																0			19											92	89	90					19																	45976226		2203	4300	6503	50668066	SO:0001583	missense	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.973C>A	19.37:g.45976226C>A	ENSP00000245919:p.Gln325Lys		50668066	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984911	0.93044	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928;ENST00000443841	T;T;T	0.37235	1.21;1.21;1.21	4.89	4.89	0.63831	.	0.249850	0.41194	D	0.000928	T	0.37865	0.1019	L	0.55213	1.73	0.49213	D	0.999764	B;B;B;B;B	0.22683	0.026;0.043;0.073;0.073;0.043	B;B;B;B;B	0.27608	0.081;0.023;0.081;0.081;0.037	T	0.21552	-1.0242	10	0.48119	T	0.1	-14.4541	15.6432	0.77025	0.0:1.0:0.0:0.0	.	182;286;250;289;325	E7EPR6;A8VJF0;A8VJF3;E9PHJ3;P53539	.;.;.;.;FOSB_HUMAN	K	325;289;278;182	ENSP00000245919:Q325K;ENSP00000407207:Q289K;ENSP00000414177:Q182K	ENSP00000245919:Q325K	Q	+	1	0	FOSB	50668066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.344000	0.65981	2.568000	0.86640	0.555000	0.69702	CAG		0.582	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		A	45976226	C	A	45976226	3	1	425	1	0	0	0	0	1	0	0	0	5986	595	21	3	987	3	FOSB	19	45976226	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	2296825	45976226	13152757	72	23317											
KLK1	3816	genome.wustl.edu	37	19	51322538	51322538	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:51322538G>A	ENST00000301420.2	-	5	736	c.701C>T	c.(700-702)cCt>cTt	p.P234L	KLK1_ENST00000448701.2_Missense_Mutation_p.P132L|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	234	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GGTGCCACAAGGGACGTAGCC	0.582																																																0			19											120	102	108					19																	51322538		2203	4300	6503	56014350	SO:0001583	missense	3816			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"Kallikreins"	6357	protein-coding gene	gene with protein product		147910	"kallikrein 1, renal/pancreas/salivary"			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.701C>T	19.37:g.51322538G>A	ENSP00000301420:p.Pro234Leu		56014350	Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.853450	0.51270	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.88741	-2.42;-2.42	3.66	1.53	0.23141	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90601	0.7053	L	0.52364	1.645	0.19300	N	0.999971	D	0.89917	1.0	D	0.76071	0.987	T	0.79642	-0.1718	9	0.59425	D	0.04	.	5.6509	0.17616	0.2498:0.0:0.7502:0.0	.	234	P06870	KLK1_HUMAN	L	234;132	ENSP00000301420:P234L;ENSP00000400994:P132L	ENSP00000301420:P234L	P	-	2	0	KLK1	56014350	0.587000	0.26791	0.012000	0.15200	0.023000	0.10783	3.133000	0.50531	0.529000	0.28599	0.561000	0.74099	CCT		0.582	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		A	51322538	G	A	51322538	3	1	425	1	0	0	0	0	1	0	0	0	8397	1000	35	2	91	2	KLK1	19	51322538	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	5346312	51322538	7806445	73	23318											
ZNF772	400720	genome.wustl.edu	37	19	57988650	57988650	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:57988650C>T	ENST00000343280.4	-	1	288	c.28G>A	c.(28-30)Gca>Aca	p.A10T	ZNF772_ENST00000601768.1_Missense_Mutation_p.A10T|ZNF772_ENST00000600175.1_Missense_Mutation_p.A10T|ZNF772_ENST00000356584.3_Missense_Mutation_p.A10T|AC003005.2_ENST00000595422.1_lincRNA|AC004076.9_ENST00000596831.1_Missense_Mutation_p.A10T|ZNF772_ENST00000427512.2_5'UTR|AC004076.9_ENST00000415705.3_5'UTR|ZNF772_ENST00000425074.3_Missense_Mutation_p.A10T	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CCCACCTGTGCCGGGCCCATC	0.647											OREG0025695	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(5;289 436 14293 15924 30817)											0			19											63	81	75					19																	57988650		2203	4300	6503	62680462	SO:0001583	missense	400720			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.28G>A	19.37:g.57988650C>T	ENSP00000341165:p.Ala10Thr	1027	62680462	A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	9.319	1.057464	0.19907	.	.	ENSG00000197128	ENST00000343280;ENST00000319969;ENST00000356584;ENST00000415705	T;T	0.05649	3.41;3.41	2.2	1.11	0.20524	.	.	.	.	.	T	0.07683	0.0193	L	0.38838	1.175	0.09310	N	1	P;P	0.51933	0.949;0.949	P;P	0.51657	0.676;0.676	T	0.33548	-0.9864	9	0.16420	T	0.52	.	5.9559	0.19273	0.309:0.691:0.0:0.0	.	10;10	A6NJK9;Q68DY9	.;ZN772_HUMAN	T	10	ENSP00000341165:A10T;ENSP00000348992:A10T	ENSP00000321015:A10T	A	-	1	0	ZNF772	62680462	0.100000	0.21855	0.553000	0.28255	0.046000	0.14306	0.114000	0.15520	0.475000	0.27415	-0.518000	0.04402	GCA		0.647	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		T	57988650	C	T	57988650	3	4	425	1	0	0	0	0	1	0	0	0	18145	739	26	2	1461	2	ZNF772	19	57988650	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	6666112	57988650	1140333	74	23319											
TXNRD2	10587	genome.wustl.edu	37	22	19865679	19865679	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr22:19865679A>C	ENST00000400521.1	-	16	1385	c.1379T>G	c.(1378-1380)gTg>gGg	p.V460G	TXNRD2_ENST00000535882.1_Missense_Mutation_p.V459G|TXNRD2_ENST00000542719.1_Missense_Mutation_p.V430G|TXNRD2_ENST00000400518.1_Missense_Mutation_p.V430G|TXNRD2_ENST00000400519.1_Missense_Mutation_p.V459G	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	460					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CAGGCCCAGCACCAGCTGTGG	0.617																																																0			22											38	43	41					22																	19865679		2066	4200	6266	18245679	SO:0001583	missense	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1379T>G	22.37:g.19865679A>C	ENSP00000383365:p.Val460Gly		18245679	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.301657	0.60195	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	5.07	5.07	0.68467	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.122083	0.53938	D	0.000046	D	0.97892	0.9307	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.986	D	0.99007	1.0813	10	0.87932	D	0	-24.6671	14.1204	0.65184	1.0:0.0:0.0:0.0	.	460;459;437	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	G	430;460;460;437;364;459;459;430	ENSP00000383362:V430G;ENSP00000383365:V460G;ENSP00000383369:V437G;ENSP00000383363:V459G;ENSP00000439314:V459G;ENSP00000439570:V430G	ENSP00000383362:V430G	V	-	2	0	TXNRD2	18245679	0.920000	0.31207	1.000000	0.80357	0.220000	0.24768	6.298000	0.72763	2.046000	0.60703	0.379000	0.24179	GTG		0.617	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		C	19865679	A	C	19865679	3	2	425	1	0	0	0	0	1	0	0	0	16808	159	6	5	203	5	TXNRD2	22	19865679	Missense_Mutation	SNP	A	TCGA-61-1737-01A-01W-0639-09		19865679	31438887	75	23320											
MYH9	4627	genome.wustl.edu	37	22	36712684	36712684	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr22:36712684C>A	ENST00000216181.5	-	12	1488	c.1258G>T	c.(1258-1260)Gcg>Tcg	p.A420S	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	420	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCATAGGTCGCCTTGGCCAAG	0.597			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0			22											61	59	60					22																	36712684		2203	4300	6503	35042630	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1258G>T	22.37:g.36712684C>A	ENSP00000216181:p.Ala420Ser		35042630	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389777	0.95988	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.73258	-0.73	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	L	0.60957	1.885	0.80722	D	1	B	0.24483	0.104	B	0.33196	0.159	T	0.65772	-0.6087	10	0.21540	T	0.41	.	18.5469	0.91050	0.0:1.0:0.0:0.0	.	420	P35579	MYH9_HUMAN	S	284;420	ENSP00000216181:A420S	ENSP00000216181:A420S	A	-	1	0	MYH9	35042630	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.538000	0.85594	0.585000	0.79938	GCG		0.597	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		A	36712684	C	A	36712684	3	1	425	1	0	0	0	0	1	0	0	0	10042	739	26	3	4744	3	MYH9	22	36712684	Missense_Mutation	SNP	C	TCGA-61-1737-01A-01W-0639-09	16847005	36712684	14591882	76	23321											
TRIOBP	11078	genome.wustl.edu	37	22	38121191	38121191	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr22:38121191G>T	ENST00000406386.3	+	7	2883	c.2628G>T	c.(2626-2628)gaG>gaT	p.E876D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	876					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAAAAGGAGAATCTGAGAC	0.522																																																0			22											139	151	147					22																	38121191		2033	4166	6199	36451137	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2628G>T	22.37:g.38121191G>T	ENSP00000384312:p.Glu876Asp		36451137	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695376	0.30052	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.17370	2.28	4.19	3.16	0.36331	.	.	.	.	.	T	0.05731	0.0150	N	0.02403	-0.565	0.20563	N	0.99989	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	9	0.02654	T	1	.	10.0364	0.42131	0.0:0.7816:0.2184:0.0	.	876	Q9H2D6	TARA_HUMAN	D	876	ENSP00000384312:E876D	ENSP00000384312:E876D	E	+	3	2	TRIOBP	36451137	0.016000	0.18221	0.024000	0.17045	0.577000	0.36160	0.222000	0.17699	1.113000	0.41760	-0.514000	0.04452	GAG		0.522	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38121191	G	T	38121191	3	4	425	1	0	0	0	0	1	0	0	0	16553	933	33	3	2646	3	TRIOBP	22	38121191	Missense_Mutation	SNP	G	TCGA-61-1737-01A-01W-0639-09	1408507	38121191	13183375	77	23322											
IQSEC2	23096	genome.wustl.edu	37	X	53268469	53268469	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chrX:53268469T>C	ENST00000375368.5	-	10	3193	c.2993A>G	c.(2992-2994)aAa>aGa	p.K998R	IQSEC2_ENST00000375365.2_Missense_Mutation_p.K803R|IQSEC2_ENST00000396435.3_Missense_Mutation_p.K1008R			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	998	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTGGAAAATTTTGGTGACCTT	0.517											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											69	65	66					X																	53268469		2203	4300	6503	53285194	SO:0001583	missense	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2993A>G	X.37:g.53268469T>C	ENSP00000364517:p.Lys998Arg	991	53285194	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	T	27.5	4.838232	0.91117	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.69306	-0.39;-0.39;-0.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.81914	0.995;0.966	D	0.85088	0.0950	10	0.72032	D	0.01	.	13.7408	0.62847	0.0:0.0:0.0:1.0	.	1008;803	Q5JU85-2;Q5JU85-3	.;.	R	1008;998;803	ENSP00000379712:K1008R;ENSP00000364517:K998R;ENSP00000364514:K803R	ENSP00000364514:K803R	K	-	2	0	IQSEC2	53285194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.032000	0.88838	1.888000	0.54679	0.416000	0.27883	AAA		0.517	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		C	53268469	T	C	53268469	3	2	425	1	0	0	0	0	1	0	0	0	7818	1841	64	4	1463	4	IQSEC2	23	53268469	Missense_Mutation	SNP	T	TCGA-61-1737-01A-01W-0639-09		53268469	102002091	78	23323											
DPYD	1806	genome.wustl.edu	37	1	98165101	98165101	+	Silent	SNP	T	T	C			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr1:98165101T>C	ENST00000370192.3	-	6	586	c.486A>G	c.(484-486)gtA>gtG	p.V162V	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	162					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTGCTTTGAATACCTACGGGG	0.363																																																0			1											113	114	114					1																	98165101		2203	4299	6502	97937689	SO:0001819	synonymous_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.486A>G	1.37:g.98165101T>C			97937689	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																				0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		C	98165101	T	C	98165101	2	2	426	1	0	0	0	0	0	0	0	1	4745	1393	49	4		4	DPYD	1	98165101	Silent	SNP	T	TCGA-61-1738-01A-01W-0639-09		98165101	151085520	1	23324											
CFHR1	3078	genome.wustl.edu	37	1	196799736	196799736	+	Silent	SNP	G	G	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr1:196799736G>A	ENST00000320493.5	+	5	802	c.714G>A	c.(712-714)caG>caA	p.Q238Q	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Silent_p.Q179Q	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	238	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ACCAATGCCAGAACTTGTATC	0.433																																																0			1											67	80	76					1																	196799736		1846	4096	5942	195066359	SO:0001819	synonymous_variant	3078			M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.714G>A	1.37:g.196799736G>A			195066359	A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	CCDS1386.1																																																																																				0.433	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		A	196799736	G	A	196799736	2	1	426	1	0	0	0	0	0	0	0	1	3284	933	33	2		2	CFHR1	1	196799736	Silent	SNP	G	TCGA-61-1738-01A-01W-0639-09	98634635	196799736	52450885	2	23325											
ADIPOR1	51094	genome.wustl.edu	37	1	202911318	202911318	+	Silent	SNP	G	G	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr1:202911318G>A	ENST00000340990.5	-	7	1132	c.834C>T	c.(832-834)ggC>ggT	p.G278G	ADIPOR1_ENST00000436244.1_Silent_p.G278G	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	278					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)	p.G278G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGGGCACGACGCCACTCAAGC	0.532																																																1	Substitution - coding silent(1)	lung(1)	1											75	69	71					1																	202911318		2203	4300	6503	201177941	SO:0001819	synonymous_variant	51094				CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.834C>T	1.37:g.202911318G>A			201177941	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Silent	SNP	ENST00000340990.5	37	CCDS1430.1																																																																																				0.532	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		A	202911318	G	A	202911318	2	1	426	1	0	0	0	0	0	0	0	1	318	1074	38	1		1	ADIPOR1	1	202911318	Silent	SNP	G	TCGA-61-1738-01A-01W-0639-09	6111582	202911318	46339303	3	23326											
ADAM17	6868	genome.wustl.edu	37	2	9661438	9661438	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr2:9661438A>C	ENST00000310823.3	-	8	1033	c.851T>G	c.(850-852)aTt>aGt	p.I284S		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AGACTTGAGAATGCGAATCTA	0.353																																																0			2											176	168	171					2																	9661438		2203	4300	6503	9578889	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.851T>G	2.37:g.9661438A>C	ENSP00000309968:p.Ile284Ser		9578889	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386646	0.82902	.	.	ENSG00000151694	ENST00000310823	D	0.86432	-2.12	5.63	5.63	0.86233	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.088195	0.85682	D	0.000000	D	0.92580	0.7643	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.93309	0.6683	10	0.87932	D	0	.	16.1359	0.81487	1.0:0.0:0.0:0.0	.	284;284	B2RNB2;P78536	.;ADA17_HUMAN	S	284	ENSP00000309968:I284S	ENSP00000309968:I284S	I	-	2	0	ADAM17	9578889	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.133000	0.77259	2.276000	0.75962	0.454000	0.30748	ATT		0.353	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			C	9661438	A	C	9661438	3	2	426	1	0	0	0	0	1	0	0	0	238	101	4	5	1671	5	ADAM17	2	9661438	Missense_Mutation	SNP	A	TCGA-61-1738-01A-01W-0639-09		9661438	233537935	4	23327											
MTHFD2	10797	genome.wustl.edu	37	2	74432890	74432890	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr2:74432890C>T	ENST00000394053.2	+	2	240	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R54W|MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R54W|MTHFD2_ENST00000394050.3_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	54					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GCAGGAAGTGCGGCAGGAGGT	0.498																																																0			2											67	69	68					2																	74432890		1944	4142	6086	74286398	SO:0001583	missense	10797			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.160C>T	2.37:g.74432890C>T	ENSP00000377617:p.Arg54Trp		74286398	Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321128	0.60634	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000409601	T;T;T	0.48201	1.77;0.82;1.82	4.84	4.84	0.62591	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.111149	0.64402	D	0.000008	T	0.59155	0.2173	M	0.91663	3.23	0.80722	D	1	B;B	0.22800	0.075;0.014	B;B	0.21546	0.035;0.022	T	0.65166	-0.6234	10	0.59425	D	0.04	.	15.8296	0.78741	0.0:1.0:0.0:0.0	.	54;54	B8ZZU9;P13995	.;MTDC_HUMAN	W	54	ENSP00000377617:R54W;ENSP00000386536:R54W;ENSP00000386542:R54W	ENSP00000377617:R54W	R	+	1	2	MTHFD2	74286398	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	2.316000	0.43761	2.399000	0.81585	0.655000	0.94253	CGG		0.498	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			T	74432890	C	T	74432890	3	4	426	1	0	0	0	0	1	0	0	0	9929	759	27	1	166	1	MTHFD2	2	74432890	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09	64771452	74432890	168766483	5	23328											
NCK2	8440	genome.wustl.edu	37	2	106471603	106471603	+	Silent	SNP	G	G	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr2:106471603G>T	ENST00000233154.4	+	3	526	c.84G>T	c.(82-84)cgG>cgT	p.R28R	NCK2_ENST00000451463.2_Silent_p.R28R|NCK2_ENST00000522586.1_Silent_p.R28R|AC009505.2_ENST00000596418.1_RNA|NCK2_ENST00000393349.2_Silent_p.R28R|AC009505.2_ENST00000598281.1_RNA|AC009505.2_ENST00000427050.2_RNA	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	28	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						AGAACGAGCGGCTGTGGTTGC	0.567																																																0			2											86	83	84					2																	106471603		2203	4300	6503	105838035	SO:0001819	synonymous_variant	8440			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.84G>T	2.37:g.106471603G>T			105838035	D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	CCDS33266.1																																																																																				0.567	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		T	106471603	G	T	106471603	2	4	426	1	0	0	0	0	0	0	0	1	10220	1190	42	3		3	NCK2	2	106471603	Silent	SNP	G	TCGA-61-1738-01A-01W-0639-09	32038713	106471603	136727770	6	23329											
CLASP1	23332	genome.wustl.edu	37	2	122216508	122216508	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr2:122216508C>T	ENST00000263710.4	-	13	1611	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	CLASP1_ENST00000541377.1_Missense_Mutation_p.E408K|CLASP1_ENST00000545861.1_Missense_Mutation_p.E176K|CLASP1_ENST00000455322.2_Missense_Mutation_p.E408K|CLASP1_ENST00000397587.3_Missense_Mutation_p.E408K|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000541859.1_Missense_Mutation_p.E177K|CLASP1_ENST00000409078.3_Missense_Mutation_p.E408K	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	408					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ATAATGGCTTCAGCTCCATGG	0.368																																																0			2											143	140	141					2																	122216508		1854	4096	5950	121932978	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1222G>A	2.37:g.122216508C>T	ENSP00000263710:p.Glu408Lys		121932978	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	C	26.5	4.741534	0.89573	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.67345	-0.26;0.74;0.74;0.74;-0.26;0.74;-0.26	5.45	5.45	0.79879	Armadillo-type fold (1);CLASP N-terminal domain (1);	0.090055	0.85682	D	0.000000	T	0.78259	0.4255	M	0.80422	2.495	0.80722	D	1	P;P;P;P	0.40638	0.674;0.623;0.725;0.472	B;B;P;P	0.48368	0.386;0.267;0.466;0.575	T	0.80393	-0.1401	10	0.66056	D	0.02	-10.3643	19.6233	0.95669	0.0:1.0:0.0:0.0	.	408;408;408;408	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	K	408;408;408;408;177;408;176	ENSP00000263710:E408K;ENSP00000389372:E408K;ENSP00000380717:E408K;ENSP00000441625:E408K;ENSP00000441770:E177K;ENSP00000386442:E408K;ENSP00000438620:E176K	ENSP00000263710:E408K	E	-	1	0	CLASP1	121932978	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.782000	0.85680	2.714000	0.92807	0.655000	0.94253	GAA		0.368	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		T	122216508	C	T	122216508	3	4	426	1	0	0	0	0	1	0	0	0	3454	835	29	2	3558	2	CLASP1	2	122216508	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09	15744905	122216508	120982865	7	23330											
KYNU	8942	genome.wustl.edu	37	2	143742671	143742671	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr2:143742671G>C	ENST00000264170.4	+	9	1006	c.748G>C	c.(748-750)Gat>Cat	p.D250H	KYNU_ENST00000375773.2_Missense_Mutation_p.D250H|KYNU_ENST00000409512.1_Missense_Mutation_p.D250H	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TGTTGGCTTTGATCTAGCACA	0.343																																																0			2											208	192	198					2																	143742671		2203	4300	6503	143459141	SO:0001583	missense	8942			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.748G>C	2.37:g.143742671G>C	ENSP00000264170:p.Asp250His		143459141		Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424012	0.83667	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	D;D;D	0.92397	-3.03;-3.03;-3.03	6.07	6.07	0.98685	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.098619	0.64402	D	0.000002	D	0.97517	0.9187	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97670	1.0166	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	250;250	Q16719;Q9BVW3	KYNU_HUMAN;.	H	250	ENSP00000264170:D250H;ENSP00000364928:D250H;ENSP00000386731:D250H	ENSP00000264170:D250H	D	+	1	0	KYNU	143459141	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.385000	0.90163	2.890000	0.99128	0.650000	0.86243	GAT		0.343	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		C	143742671	G	C	143742671	3	2	426	1	0	0	0	0	1	0	0	0	8587	1290	45	3	778	3	KYNU	2	143742671	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	21526163	143742671	99456702	8	23331											
TTN	7273	genome.wustl.edu	37	2	179438584	179438584	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr2:179438584G>T	ENST00000591111.1	-	276	67576	c.67352C>A	c.(67351-67353)tCa>tAa	p.S22451*	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S15027*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S15152*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S21524*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.S24092*|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S15219*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22451	Ig-like 116.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCTTGTTGAATCTTTGTT	0.408																																																0			2											92	86	88					2																	179438584		1861	4098	5959	179146830	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67352C>A	2.37:g.179438584G>T	ENSP00000465570:p.Ser22451*		179146830	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	62	69.818224	0.99992	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.4488	0.99124	0.0:0.0:1.0:0.0	.	.	.	.	X	21524;15027;15219;15152;15025	.	ENSP00000340554:S15219X	S	-	2	0	TTN	179146830	1.000000	0.71417	0.997000	0.53966	0.868000	0.49771	9.807000	0.99171	2.843000	0.97960	0.655000	0.94253	TCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179438584	G	T	179438584	4	4	426	1	0	0	0	0	0	1	0	0	16735	1294	45	3	35852	3	TTN	2	179438584	Nonsense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	35695913	179438584	63760789	9	23332											
FAM171B	165215	genome.wustl.edu	37	2	187605046	187605046	+	Silent	SNP	G	G	A	rs112566975	byFrequency	TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr2:187605046G>A	ENST00000304698.5	+	2	533	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	110						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAAACTACACGAAGACAAATT	0.383													G|||	4	0.000798722	0.003	0	5008	,	,		18632	0		0	False		,,,				2504	0															0			2						G		16,4390	23.3+/-48.9	0,16,2187	130	113	119		330	-5.5	0.8	2	dbSNP_132	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM171B	NM_177454.3		0,17,6486	AA,AG,GG		0.0116,0.3631,0.1307		110/827	187605046	17,12989	2203	4300	6503	187313291	SO:0001819	synonymous_variant	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.330G>A	2.37:g.187605046G>A			187313291	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																				0.383	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187605046	G	A	187605046	2	1	426	1	0	0	0	0	0	0	0	1	5491	1045	37	1		1	FAM171B	2	187605046	Silent	SNP	G	TCGA-61-1738-01A-01W-0639-09	8166462	187605046	55594327	10	23333											
OBSL1	23363	genome.wustl.edu	37	2	220431609	220431609	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr2:220431609C>T	ENST00000404537.1	-	5	2133	c.2077G>A	c.(2077-2079)Gcc>Acc	p.A693T	OBSL1_ENST00000289656.3_Missense_Mutation_p.A280T|OBSL1_ENST00000603926.1_Missense_Mutation_p.A693T|OBSL1_ENST00000265318.4_Missense_Mutation_p.A693T|OBSL1_ENST00000373876.1_Missense_Mutation_p.A693T|OBSL1_ENST00000373873.4_Missense_Mutation_p.A693T	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	693					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGACCAGGGCACCGCTGTCC	0.637																																																0			2											53	58	56					2																	220431609		2074	4207	6281	220139853	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2077G>A	2.37:g.220431609C>T	ENSP00000385636:p.Ala693Thr		220139853	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.060099	0.55432	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.23	4.35	0.52113	Immunoglobulin-like fold (1);	.	.	.	.	T	0.42291	0.1196	L	0.28274	0.84	0.58432	D	0.999998	D;D;B;D	0.65815	0.995;0.995;0.129;0.981	D;D;B;D	0.81914	0.995;0.995;0.145;0.951	T	0.15378	-1.0439	9	0.20519	T	0.43	.	11.1871	0.48664	0.0:0.9157:0.0:0.0843	.	694;693;280;693	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	T	693;693;693;693;280	ENSP00000265318:A693T;ENSP00000385636:A693T;ENSP00000362983:A693T;ENSP00000362980:A693T;ENSP00000289656:A280T	ENSP00000265318:A693T	A	-	1	0	OBSL1	220139853	0.998000	0.40836	0.999000	0.59377	0.686000	0.39977	3.193000	0.50997	1.440000	0.47531	0.655000	0.94253	GCC		0.637	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220431609	C	T	220431609	3	4	426	1	0	0	0	0	1	0	0	0	10813	710	25	2	3833	2	OBSL1	2	220431609	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09	32826563	220431609	22767764	11	23334											
PIK3CA	5290	genome.wustl.edu	37	3	178916957	178916957	+	Missense_Mutation	SNP	G	G	T	rs200018596		TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr3:178916957G>T	ENST00000263967.3	+	2	501	c.344G>T	c.(343-345)cGa>cTa	p.R115L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	115					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R115L(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCCTCAATCGAGAAATTGGT	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	3	Substitution - Missense(3)	endometrium(2)|upper_aerodigestive_tract(1)	3											71	67	69					3																	178916957		1815	4070	5885	180399651	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.344G>T	3.37:g.178916957G>T	ENSP00000263967:p.Arg115Leu		180399651	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.05	3.536439	0.65085	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.72282	0.9;-0.64	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	L	0.34521	1.04	0.80722	D	1	P	0.42785	0.79	B	0.34180	0.177	T	0.60021	-0.7344	9	.	.	.	-14.1086	19.4271	0.94746	0.0:0.0:1.0:0.0	.	115	P42336	PK3CA_HUMAN	L	115	ENSP00000263967:R115L;ENSP00000417479:R115L	.	R	+	2	0	PIK3CA	180399651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.289000	0.96061	2.584000	0.87258	0.555000	0.69702	CGA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178916957	G	T	178916957	3	4	426	1	0	0	0	0	1	0	0	0	11913	1058	37	3	346	3	PIK3CA	3	178916957	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09		178916957	19105473	12	23335											
N4BP2	55728	genome.wustl.edu	37	4	40104288	40104288	+	Missense_Mutation	SNP	G	G	A	rs202029831		TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr4:40104288G>A	ENST00000261435.6	+	4	1239	c.823G>A	c.(823-825)Gtt>Att	p.V275I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	275					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATCTGAGTGCGTTGAGGCTCA	0.433													G|||	1	0.000199681	0	0	5008	,	,		19119	0		0.001	False		,,,				2504	0															0			4						G	ILE/VAL	0,4406		0,0,2203	75	78	77		823	-1.5	0	4		77	2,8598	2.2+/-6.3	0,2,4298	yes	missense	N4BP2	NM_018177.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	275/1771	40104288	2,13004	2203	4300	6503	39780683	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.823G>A	4.37:g.40104288G>A	ENSP00000261435:p.Val275Ile		39780683	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	4.302	0.055296	0.08291	0.0	2.33E-4	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.79352	-1.26	5.33	-1.46	0.08800	.	2.107770	0.01862	N	0.036684	T	0.60830	0.2299	N	0.24115	0.695	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.13407	0.009;0.004	T	0.35699	-0.9778	10	0.22706	T	0.39	0.1573	1.7141	0.02898	0.3525:0.215:0.3182:0.1143	.	275;275	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	I	275;195	ENSP00000261435:V275I	ENSP00000261435:V275I	V	+	1	0	N4BP2	39780683	0.000000	0.05858	0.011000	0.14972	0.016000	0.09150	-0.195000	0.09546	-0.134000	0.11516	-0.145000	0.13849	GTT		0.433	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		A	40104288	G	A	40104288	3	1	426	1	0	0	0	0	1	0	0	0	10110	1145	40	1	829	1	N4BP2	4	40104288	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09		40104288	151049988	13	23336											
C4orf21	55345	genome.wustl.edu	37	4	113539521	113539521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr4:113539521C>T	ENST00000505019.1	-	6	1802	c.1677G>A	c.(1675-1677)tgG>tgA	p.W559*	C4orf21_ENST00000445203.2_Nonsense_Mutation_p.W528*|C4orf21_ENST00000309071.5_Nonsense_Mutation_p.W559*	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		559						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGTCCTTTACCCAACTCTCTG	0.373																																																0			4											106	105	105					4																	113539521		2203	4299	6502	113758970	SO:0001587	stop_gained	55345																														ENST00000505019.1:c.1677G>A	4.37:g.113539521C>T	ENSP00000424737:p.Trp559*		113758970	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Nonsense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	C	27.2	4.813503	0.90790	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	.	.	.	5.21	3.48	0.39840	.	1.645180	0.03077	N	0.158039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4779	7.8313	0.29344	0.3974:0.5279:0.0:0.0746	.	.	.	.	X	559;559;528	.	ENSP00000309095:W559X	W	-	3	0	C4orf21	113758970	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.562000	0.23531	0.693000	0.31634	0.557000	0.71058	TGG		0.373	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			T	113539521	C	T	113539521	4	4	426	1	0	0	0	0	0	1	0	0	2254	624	22	2	4729	2	C4orf21	4	113539521	Nonsense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09	73435233	113539521	77614755	14	23337											
ANK2	287	genome.wustl.edu	37	4	114253186	114253186	+	Missense_Mutation	SNP	C	C	T	rs147934418		TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr4:114253186C>T	ENST00000357077.4	+	28	3237	c.3184C>T	c.(3184-3186)Cgc>Tgc	p.R1062C	ANK2_ENST00000394537.3_Missense_Mutation_p.R1062C|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Missense_Mutation_p.R1053C|ANK2_ENST00000264366.6_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1062	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTGGTCAGCCGCATTCTTCA	0.493																																																0			4						C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	119	128	125		3157,3184,3184	4.8	1	4	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1053/1864,1062/3958,1062/1873	114253186	1,13005	2203	4300	6503	114472635	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3184C>T	4.37:g.114253186C>T	ENSP00000349588:p.Arg1062Cys		114472635	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637050	0.67130	0.0	1.16E-4	ENSG00000145362	ENST00000503271;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000343056	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.62	4.75	0.60458	ZU5 (3);	0.000000	0.32970	N	0.005431	T	0.54095	0.1837	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.996;1.0;0.996;0.992	T	0.64715	-0.6342	10	0.87932	D	0	.	15.962	0.79939	0.1352:0.8648:0.0:0.0	.	1029;1062;1062;1053;1053	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	C	1041;1053;1077;1062;1062;1053	ENSP00000423799:R1041C;ENSP00000421067:R1053C;ENSP00000424722:R1077C;ENSP00000378044:R1062C;ENSP00000349588:R1062C	ENSP00000340561:R1053C	R	+	1	0	ANK2	114472635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.607000	0.46300	2.643000	0.89663	0.655000	0.94253	CGC		0.493	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114253186	C	T	114253186	3	4	426	1	0	0	0	0	1	0	0	0	621	652	23	1	3359	1	ANK2	4	114253186	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09	713665	114253186	76901090	15	23338											
MAP3K1	4214	genome.wustl.edu	37	5	56176578	56176578	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr5:56176578T>C	ENST00000399503.3	+	12	2128	c.2128T>C	c.(2128-2130)Tgc>Cgc	p.C710R		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	710					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTTGGAACTGTGCAAAGGCCA	0.378																																																0			5											107	97	100					5																	56176578		1931	4135	6066	56212335	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2128T>C	5.37:g.56176578T>C	ENSP00000382423:p.Cys710Arg		56212335		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389266	0.82902	.	.	ENSG00000095015	ENST00000399503	T	0.66280	-0.2	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.78628	-0.2130	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	710	Q13233	M3K1_HUMAN	R	710	ENSP00000382423:C710R	ENSP00000382423:C710R	C	+	1	0	MAP3K1	56212335	1.000000	0.71417	0.977000	0.42913	0.917000	0.54804	6.586000	0.74067	2.371000	0.80710	0.533000	0.62120	TGC		0.378	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		C	56176578	T	C	56176578	3	2	426	1	0	0	0	0	1	0	0	0	9243	1696	59	4	2174	4	MAP3K1	5	56176578	Missense_Mutation	SNP	T	TCGA-61-1738-01A-01W-0639-09		56176578	124738682	16	23339											
SLC23A1	9963	genome.wustl.edu	37	5	138715947	138715947	+	Silent	SNP	G	G	A	rs200969580		TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr5:138715947G>A	ENST00000348729.3	-	6	643	c.597C>T	c.(595-597)gtC>gtT	p.V199V	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Silent_p.V203V	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	199					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGCTTGGAAGACAGAAAGGC	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		17515	0		0	False		,,,				2504	0															0			5											42	50	48					5																	138715947		2195	4295	6490	138743846	SO:0001819	synonymous_variant	9963			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.597C>T	5.37:g.138715947G>A			138743846	O95191|Q8WWB6|Q9UGH4|Q9UI39	Silent	SNP	ENST00000348729.3	37	CCDS4212.1																																																																																				0.642	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		A	138715947	G	A	138715947	2	1	426	1	0	0	0	0	0	0	0	1	14465	929	33	2		2	SLC23A1	5	138715947	Silent	SNP	G	TCGA-61-1738-01A-01W-0639-09	82539369	138715947	42199313	17	23340											
PCDHA2	56146	genome.wustl.edu	37	5	140174859	140174859	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr5:140174859A>T	ENST00000526136.1	+	1	310	c.310A>T	c.(310-312)Atc>Ttc	p.I104F	PCDHA2_ENST00000520672.2_Missense_Mutation_p.I104F|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.I104F	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAATGTAGCATCCACGTGGA	0.537																																																0			5											111	126	121					5																	140174859		2203	4300	6503	140155043	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.310A>T	5.37:g.140174859A>T	ENSP00000431748:p.Ile104Phe		140155043	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	12.39	1.923089	0.33908	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.38560	1.13;1.13;1.13	3.66	2.48	0.30137	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.209129	0.23870	U	0.043753	T	0.50429	0.1615	M	0.78456	2.415	0.09310	N	0.999991	P;P;P	0.46952	0.8;0.887;0.8	P;B;P	0.53185	0.611;0.361;0.72	T	0.43669	-0.9377	10	0.59425	D	0.04	.	4.0639	0.09851	0.575:0.1997:0.2253:0.0	.	104;104;104	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	F	104	ENSP00000430584:I104F;ENSP00000367372:I104F;ENSP00000431748:I104F	ENSP00000367372:I104F	I	+	1	0	PCDHA2	140155043	0.140000	0.22579	1.000000	0.80357	0.453000	0.32348	0.658000	0.24979	0.583000	0.29574	0.524000	0.50904	ATC		0.537	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		T	140174859	A	T	140174859	3	4	426	1	0	0	0	0	1	0	0	0	11524	217	8	5	312	5	PCDHA2	5	140174859	Missense_Mutation	SNP	A	TCGA-61-1738-01A-01W-0639-09	1458912	140174859	40740401	18	23341											
PCDHB10	56126	genome.wustl.edu	37	5	140573668	140573668	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr5:140573668G>A	ENST00000239446.4	+	1	1727	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACCTGTTCGCCCTCAGGTC	0.701																																																0			5											103	120	114					5																	140573668		2203	4298	6501	140553852	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1543G>A	5.37:g.140573668G>A	ENSP00000239446:p.Ala515Thr		140553852	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	19.93	3.918463	0.73098	.	.	ENSG00000120324	ENST00000239446	T	0.01745	4.66	3.53	3.53	0.40419	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05868	0.0153	L	0.33792	1.035	0.30005	N	0.815699	D	0.76494	0.999	D	0.70487	0.969	T	0.14035	-1.0487	9	0.87932	D	0	.	15.3153	0.74069	0.0:0.0:1.0:0.0	.	515	Q9UN67	PCDBA_HUMAN	T	515	ENSP00000239446:A515T	ENSP00000239446:A515T	A	+	1	0	PCDHB10	140553852	0.000000	0.05858	0.887000	0.34795	0.974000	0.67602	0.768000	0.26590	1.994000	0.58287	0.549000	0.68633	GCC		0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		A	140573668	G	A	140573668	3	1	426	1	0	0	0	0	1	0	0	0	11535	1087	38	1	1545	1	PCDHB10	5	140573668	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	398809	140573668	40341592	19	23342											
BRPF3	27154	genome.wustl.edu	37	6	36168869	36168869	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr6:36168869G>A	ENST00000357641.6	+	2	1023	c.770G>A	c.(769-771)cGc>cAc	p.R257H	BRPF3_ENST00000543502.1_Missense_Mutation_p.R257H|BRPF3_ENST00000534694.1_Missense_Mutation_p.R257H|BRPF3_ENST00000339717.7_Missense_Mutation_p.R257H|BRPF3_ENST00000443324.2_Missense_Mutation_p.R257H|BRPF3_ENST00000534400.1_Missense_Mutation_p.R257H	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	257					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGGCTATGCCGCTGCTGCCTG	0.567																																																0			6											78	70	73					6																	36168869		2203	4300	6503	36276847	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.770G>A	6.37:g.36168869G>A	ENSP00000350267:p.Arg257His		36276847	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937270	0.92458	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.79	5.79	0.91817	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.66560	2.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.98;0.966	D	0.92305	0.5853	10	0.87932	D	0	.	20.0368	0.97565	0.0:0.0:1.0:0.0	.	257;257;257	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	H	257	ENSP00000350267:R257H;ENSP00000345419:R257H;ENSP00000434501:R257H;ENSP00000445352:R257H;ENSP00000387368:R257H;ENSP00000436504:R257H	ENSP00000345419:R257H	R	+	2	0	BRPF3	36276847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.414000	0.97362	2.735000	0.93741	0.563000	0.77884	CGC		0.567	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		A	36168869	G	A	36168869	3	1	426	1	0	0	0	0	1	0	0	0	1521	1087	38	1	772	1	BRPF3	6	36168869	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09		36168869	134946198	20	23343											
PRSS35	167681	genome.wustl.edu	37	6	84233812	84233812	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr6:84233812G>T	ENST00000369700.3	+	2	829	c.652G>T	c.(652-654)Ggt>Tgt	p.G218C	PRSS35_ENST00000536636.1_Missense_Mutation_p.G218C	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	218	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCAAAGAGAGGGTACCAGAGA	0.522																																																0			6											61	69	66					6																	84233812		2203	4300	6503	84290531	SO:0001583	missense	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.652G>T	6.37:g.84233812G>T	ENSP00000358714:p.Gly218Cys		84290531	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	6.592	0.477554	0.12521	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.45668	0.89;0.89	5.41	4.5	0.54988	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.984279	0.08300	N	0.966980	T	0.17023	0.0409	L	0.29908	0.895	0.09310	N	1	P	0.45348	0.856	B	0.40101	0.319	T	0.14254	-1.0479	10	0.62326	D	0.03	-16.6576	9.2313	0.37439	0.172:0.0:0.828:0.0	.	218	Q8N3Z0	PRS35_HUMAN	C	218	ENSP00000440870:G218C;ENSP00000358714:G218C	ENSP00000358714:G218C	G	+	1	0	PRSS35	84290531	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	0.942000	0.29017	1.210000	0.43336	0.462000	0.41574	GGT		0.522	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		T	84233812	G	T	84233812	3	4	426	1	0	0	0	0	1	0	0	0	12627	1232	43	3	654	3	PRSS35	6	84233812	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	48064943	84233812	86881255	21	23344											
KPNA5	3841	genome.wustl.edu	37	6	117010541	117010541	+	Silent	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr6:117010541C>T	ENST00000368564.1	+	2	211	c.63C>T	c.(61-63)gcC>gcT	p.A21A	KPNA5_ENST00000356348.1_Silent_p.A21A			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	18	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AGAATAAAGCCCTAAATCCTC	0.348																																																0			6											122	133	130					6																	117010541		2203	4300	6503	117117234	SO:0001819	synonymous_variant	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.63C>T	6.37:g.117010541C>T			117117234	B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	37	CCDS5111.1																																																																																				0.348	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		T	117010541	C	T	117010541	2	4	426	1	0	0	0	0	0	0	0	1	8433	610	22	2		2	KPNA5	6	117010541	Silent	SNP	C	TCGA-61-1738-01A-01W-0639-09	32776729	117010541	54104526	22	23345											
TULP4	56995	genome.wustl.edu	37	6	158923864	158923864	+	Missense_Mutation	SNP	G	G	A	rs138066719		TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr6:158923864G>A	ENST00000367097.3	+	13	4526	c.3169G>A	c.(3169-3171)Gcc>Acc	p.A1057T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1057					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGCCCATACCGCCAGCGCCTC	0.701																																																0			6						G	,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	27	28	28		,3169	2.8	0.1	6	dbSNP_134	28	1,8589	1.2+/-3.3	0,1,4294	no	intron,missense	TULP4	NM_001007466.1,NM_020245.3	,58	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,1057/1544	158923864	2,12994	2203	4295	6498	158843852	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3169G>A	6.37:g.158923864G>A	ENSP00000356064:p.Ala1057Thr		158843852	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	5.925	0.354698	0.11239	2.27E-4	1.16E-4	ENSG00000130338	ENST00000367097	T	0.60672	0.17	5.06	2.8	0.32819	.	0.524304	0.21363	N	0.075774	T	0.29491	0.0735	L	0.44542	1.39	0.58432	D	0.999999	B	0.19817	0.039	B	0.16722	0.016	T	0.13791	-1.0496	10	0.39692	T	0.17	-10.3901	9.1674	0.37060	0.2105:0.0:0.7895:0.0	.	1057	Q9NRJ4	TULP4_HUMAN	T	1057	ENSP00000356064:A1057T	ENSP00000356064:A1057T	A	+	1	0	TULP4	158843852	0.994000	0.37717	0.111000	0.21465	0.015000	0.08874	2.675000	0.46875	0.775000	0.33450	0.561000	0.74099	GCC		0.701	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		A	158923864	G	A	158923864	3	1	426	1	0	0	0	0	1	0	0	0	16776	1087	38	1	3219	1	TULP4	6	158923864	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	41913323	158923864	12191203	23	23346											
STAG3	10734	genome.wustl.edu	37	7	99802723	99802723	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr7:99802723C>T	ENST00000426455.1	+	28	3454	c.3047C>T	c.(3046-3048)tCc>tTc	p.S1016F	STAG3_ENST00000317296.5_Missense_Mutation_p.S1016F|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Missense_Mutation_p.S958F|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1016					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGAGTTTTCCCCCCGACTC	0.547																																																0			7											147	154	151					7																	99802723		2203	4300	6503	99640659	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3047C>T	7.37:g.99802723C>T	ENSP00000400359:p.Ser1016Phe		99640659	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	19.79	3.893694	0.72639	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000379577;ENST00000317296	D;D;D	0.84589	-1.87;-1.87;-1.87	5.28	5.28	0.74379	.	0.000000	0.46145	D	0.000302	D	0.92747	0.7694	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.998	D	0.93690	0.7006	10	0.87932	D	0	-15.9625	16.4332	0.83860	0.0:1.0:0.0:0.0	.	958;1016;1016	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	F	1016;958;36;1016	ENSP00000400359:S1016F;ENSP00000377586:S958F;ENSP00000319318:S1016F	ENSP00000319318:S1016F	S	+	2	0	STAG3	99640659	1.000000	0.71417	0.999000	0.59377	0.794000	0.44872	5.485000	0.66850	2.455000	0.83008	0.655000	0.94253	TCC		0.547	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		T	99802723	C	T	99802723	3	4	426	1	0	0	0	0	1	0	0	0	15246	855	30	2	3153	2	STAG3	7	99802723	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09		99802723	59335940	24	23347											
MUC17	140453	genome.wustl.edu	37	7	100679280	100679280	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr7:100679280G>C	ENST00000306151.4	+	3	4647	c.4583G>C	c.(4582-4584)aGt>aCt	p.S1528T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1528	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAGTGGCCAGTTCTGAAATC	0.488																																																0			7											254	222	233					7																	100679280		2203	4300	6503	100466000	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4583G>C	7.37:g.100679280G>C	ENSP00000302716:p.Ser1528Thr		100466000	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.067863	0.00382	.	.	ENSG00000169876	ENST00000306151	T	0.01981	4.52	.	.	.	.	.	.	.	.	T	0.00815	0.0027	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44967	-0.9293	7	0.08381	T	0.77	.	.	.	.	.	1528	Q685J3	MUC17_HUMAN	T	1528	ENSP00000302716:S1528T	ENSP00000302716:S1528T	S	+	2	0	MUC17	100466000	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-2.931000	0.00688	-1.729000	0.01364	-1.721000	0.00707	AGT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100679280	G	C	100679280	3	2	426	1	0	0	0	0	1	0	0	0	9974	1029	36	3	4593	3	MUC17	7	100679280	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	876557	100679280	58459383	25	23348											
REPIN1	29803	genome.wustl.edu	37	7	150068824	150068824	+	Missense_Mutation	SNP	G	G	A	rs138254226	byFrequency	TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr7:150068824G>A	ENST00000425389.2	+	1	572	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	REPIN1_ENST00000489432.2_Missense_Mutation_p.R222Q|REPIN1_ENST00000540729.1_Missense_Mutation_p.R165Q|REPIN1_ENST00000397281.2_Missense_Mutation_p.R165Q|REPIN1_ENST00000466559.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000482680.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R165Q	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	165				R -> Q (in Ref. 2; CAB53100). {ECO:0000305}.	DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCTCATCTGCGGCGGTGCCAC	0.647													G|||	24	0.00479233	0.0174	0.0014	5008	,	,		15203	0		0	False		,,,				2504	0															0			7						G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	100,3942		1,98,1922	17	21	20		665,494,494,494	3.4	0.6	7	dbSNP_134	20	1,8323		0,1,4161	yes	missense,missense,missense,missense	REPIN1	NM_001099695.1,NM_001099696.2,NM_013400.3,NM_014374.3	43,43,43,43	1,99,6083	AA,AG,GG		0.012,2.474,0.8168	probably-damaging,probably-damaging,probably-damaging,probably-damaging	222/625,165/568,165/568,165/568	150068824	101,12265	2021	4162	6183	149699757	SO:0001583	missense	29803			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.494G>A	7.37:g.150068824G>A	ENSP00000388287:p.Arg165Gln		149699757	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	CCDS43677.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	G	10.75	1.438652	0.25900	0.02474	1.2E-4	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.26	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73799	0.3633	L	0.58101	1.795	0.19300	N	0.999978	D;D	0.76494	0.999;0.999	D;D	0.80764	0.956;0.994	T	0.66697	-0.5858	9	0.62326	D	0.03	-14.5708	8.4402	0.32810	0.0836:0.0:0.7643:0.1521	.	222;165	C9J3L7;Q9BWE0	.;REPI1_HUMAN	Q	165;165;165;222;224;225;165	ENSP00000445016:R165Q;ENSP00000380451:R165Q;ENSP00000407714:R165Q;ENSP00000417291:R222Q;ENSP00000419789:R224Q;ENSP00000419872:R225Q;ENSP00000388287:R165Q	ENSP00000380451:R165Q	R	+	2	0	REPIN1	149699757	0.000000	0.05858	0.617000	0.29091	0.984000	0.73092	0.186000	0.16978	1.172000	0.42781	0.462000	0.41574	CGG		0.647	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		A	150068824	G	A	150068824	3	1	426	1	0	0	0	0	1	0	0	0	13230	1116	39	1	671	1	REPIN1	7	150068824	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	49389544	150068824	9069839	26	23349											
PPP1R3B	79660	genome.wustl.edu	37	8	8998434	8998434	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr8:8998434A>T	ENST00000310455.3	-	2	878	c.728T>A	c.(727-729)aTg>aAg	p.M243K	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.M243K|RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	243					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GGGCTTGGTCATTCCCTGGGT	0.498																																																0			8											188	182	184					8																	8998434		2203	4300	6503	9035844	SO:0001583	missense	79660			AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.728T>A	8.37:g.8998434A>T	ENSP00000308318:p.Met243Lys		9035844	B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.084435	0.00371	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.39056	1.1;1.1	5.71	-4.84	0.03151	.	1.585610	0.03424	N	0.206711	T	0.11965	0.0291	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.05833	T	0.94	-0.1007	4.4781	0.11753	0.4311:0.095:0.386:0.0879	.	243	Q86XI6	PPR3B_HUMAN	K	243	ENSP00000308318:M243K;ENSP00000428642:M243K	ENSP00000308318:M243K	M	-	2	0	PPP1R3B	9035844	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.044000	0.13992	-0.738000	0.04817	-1.102000	0.02115	ATG		0.498	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		T	8998434	A	T	8998434	3	4	426	1	0	0	0	0	1	0	0	0	12375	217	8	5	133	5	PPP1R3B	8	8998434	Missense_Mutation	SNP	A	TCGA-61-1738-01A-01W-0639-09		8998434	137365588	27	23350											
HR	55806	genome.wustl.edu	37	8	21976511	21976511	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr8:21976511G>C	ENST00000381418.4	-	16	4645	c.3165C>G	c.(3163-3165)caC>caG	p.H1055Q	HR_ENST00000312841.8_Missense_Mutation_p.H1055Q	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1055	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCCGGAACACGTGCCACACAG	0.682																																																0			8											47	51	50					8																	21976511		2203	4300	6503	22032456	SO:0001583	missense	55806			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.3165C>G	8.37:g.21976511G>C	ENSP00000370826:p.His1055Gln		22032456	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937984	0.73557	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71579	-0.58;-0.49	5.28	-5.72	0.02406	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.56097	D	0.000028	T	0.79209	0.4407	M	0.73962	2.25	0.35485	D	0.798447	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81803	-0.0765	10	0.87932	D	0	-14.8297	13.5746	0.61866	0.6733:0.0:0.3267:0.0	.	1055;1055	O43593-2;O43593	.;HAIR_HUMAN	Q	1055	ENSP00000370826:H1055Q;ENSP00000326765:H1055Q	ENSP00000326765:H1055Q	H	-	3	2	HR	22032456	0.997000	0.39634	0.880000	0.34516	0.893000	0.52053	0.192000	0.17096	-1.192000	0.02691	0.313000	0.20887	CAC		0.682	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			C	21976511	G	C	21976511	3	2	426	1	0	0	0	0	1	0	0	0	7347	1136	40	3	420	3	HR	8	21976511	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	12978077	21976511	124387511	28	23351											
UBR5	51366	genome.wustl.edu	37	8	103271255	103271255	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr8:103271255C>T	ENST00000520539.1	-	57	8665	c.8059G>A	c.(8059-8061)Gtg>Atg	p.V2687M	UBR5_ENST00000220959.4_Missense_Mutation_p.V2686M|UBR5_ENST00000518205.1_Missense_Mutation_p.V415M|UBR5_ENST00000521922.1_Missense_Mutation_p.V2680M|KB-431C1.5_ENST00000606361.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2687	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)			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)			AGCATTTGCACATTGACTTCA	0.343																																					Ovarian(131;96 1741 5634 7352 27489)											0			8											103	106	105					8																	103271255		2203	4300	6503	103340431	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.8059G>A	8.37:g.103271255C>T	ENSP00000429084:p.Val2687Met		103340431	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097907	0.94197	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.73	5.73	0.89815	HECT (4);	0.000000	0.64402	D	0.000001	T	0.71333	0.3327	M	0.84156	2.68	0.80722	D	1	P;P	0.41673	0.759;0.759	P;P	0.46585	0.521;0.521	T	0.75560	-0.3275	10	0.87932	D	0	.	19.8966	0.96963	0.0:1.0:0.0:0.0	.	2680;2687	E7EMW7;O95071	.;UBR5_HUMAN	M	2687;2686;415;2680	ENSP00000429084:V2687M;ENSP00000220959:V2686M;ENSP00000428693:V415M;ENSP00000427819:V2680M	ENSP00000220959:V2686M	V	-	1	0	UBR5	103340431	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.487000	0.81328	2.700000	0.92200	0.655000	0.94253	GTG		0.343	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103271255	C	T	103271255	3	4	426	1	0	0	0	0	1	0	0	0	16905	478	17	2	352	2	UBR5	8	103271255	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09	81294744	103271255	43092767	29	23352											
FLJ43860	389690	genome.wustl.edu	37	8	142506444	142506444	+	RNA	SNP	A	A	G	rs145059710	byFrequency	TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr8:142506444A>G	ENST00000430863.1	-	0	318					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TCCCCCATGAACATCCTGTGC	0.637													A|||	40	0.00798722	0.0287	0.0029	5008	,	,		19858	0		0	False		,,,				2504	0															0			8						A	LEU/PHE	152,4164		6,140,2012	93	93	93		238	4.4	0.9	8	dbSNP_134	93	0,8510		0,0,4255	yes	missense	FLJ43860	NM_207414.2	22	6,140,6267	GG,GA,AA		0.0,3.5218,1.1851	possibly-damaging	80/1319	142506444	152,12674	2158	4255	6413	142575626			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142506444A>G			142575626		Missense_Mutation	SNP	ENST00000430863.1	37		13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	A	15.98	2.992015	0.54041	0.035218	0.0	ENSG00000226807	ENST00000521161	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	T	0.24122	0.0584	N	0.24115	0.695	.	.	.	D	0.67145	0.996	D	0.77557	0.99	T	0.58370	-0.7648	7	0.54805	T	0.06	.	9.8713	0.41175	1.0:0.0:0.0:0.0	.	80	Q6ZUA9	.	L	45	.	ENSP00000431031:F80L	F	-	1	0	AC100803.1	142575626	0.968000	0.33430	0.886000	0.34754	0.039000	0.13416	2.308000	0.43690	1.826000	0.53198	0.459000	0.35465	TTC		0.637	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		G	142506444	A	G	142506444	1	3	426	0	1	0	0	0	0	0	0	0	5930	43	2	4		4	FLJ43860	8	142506444	RNA	SNP	A	TCGA-61-1738-01A-01W-0639-09	39235189	142506444	3857578	30	23353											
ZNF462	58499	genome.wustl.edu	37	9	109771845	109771845	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr9:109771845C>A	ENST00000277225.5	+	12	7498	c.7209C>A	c.(7207-7209)gaC>gaA	p.D2403E	ZNF462_ENST00000457913.1_Missense_Mutation_p.D2463E|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.D360E|ZNF462_ENST00000441147.2_Missense_Mutation_p.D1309E			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2403					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GATTTTCTGACCACGGGGCTG	0.478																																																0			9											111	100	104					9																	109771845		2203	4300	6503	108811666	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7209C>A	9.37:g.109771845C>A	ENSP00000277225:p.Asp2403Glu		108811666	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630528	0.28978	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.14266	3.56;4.02;4.13;4.14;2.52	5.67	1.24	0.21308	.	0.447384	0.24280	N	0.039917	T	0.07143	0.0181	N	0.20881	0.62	0.23243	N	0.998052	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.003	T	0.42548	-0.9445	10	0.10111	T	0.7	.	7.5424	0.27746	0.0:0.4386:0.4049:0.1565	.	2463;2403	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	E	2403;2463;1346;1309;360	ENSP00000277225:D2403E;ENSP00000414570:D2463E;ENSP00000363818:D1346E;ENSP00000397306:D1309E;ENSP00000439771:D360E	ENSP00000277225:D2403E	D	+	3	2	ZNF462	108811666	0.000000	0.05858	0.714000	0.30535	0.953000	0.61014	-0.596000	0.05720	0.221000	0.20879	0.557000	0.71058	GAC		0.478	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		A	109771845	C	A	109771845	3	1	426	1	0	0	0	0	1	0	0	0	17926	506	18	3	7251	3	ZNF462	9	109771845	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09		109771845	31441586	31	23354											
HSPA5	3309	genome.wustl.edu	37	9	127998994	127998994	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr9:127998994T>A	ENST00000324460.6	-	8	2045	c.1842A>T	c.(1840-1842)gaA>gaT	p.E614D		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	614					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CTTTGAAGTCTTCAATGTCAG	0.433										Prostate(1;0.17)																																						0			9											116	110	112					9																	127998994		2203	4300	6503	127038815	SO:0001583	missense	3309				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1842A>T	9.37:g.127998994T>A	ENSP00000324173:p.Glu614Asp		127038815	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153448	0.38021	.	.	ENSG00000044574	ENST00000324460	T	0.16073	2.37	4.87	4.87	0.63330	.	0.050634	0.85682	D	0.000000	T	0.13415	0.0325	N	0.25992	0.78	0.80722	D	1	B	0.14438	0.01	B	0.22880	0.042	T	0.09228	-1.0684	10	0.23302	T	0.38	-19.9751	13.9572	0.64157	0.0:0.0:0.0:1.0	.	614	P11021	GRP78_HUMAN	D	614	ENSP00000324173:E614D	ENSP00000324173:E614D	E	-	3	2	HSPA5	127038815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.358000	0.34102	1.955000	0.56771	0.477000	0.44152	GAA		0.433	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			A	127998994	T	A	127998994	3	1	426	1	0	0	0	0	1	0	0	0	7414	1606	56	5	126	5	HSPA5	9	127998994	Missense_Mutation	SNP	T	TCGA-61-1738-01A-01W-0639-09	18227149	127998994	13214437	32	23355											
AK1	203	genome.wustl.edu	37	9	130630328	130630328	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr9:130630328C>G	ENST00000373176.1	-	7	696	c.544G>C	c.(544-546)Gtc>Ctc	p.V182L	MIR4672_ENST00000583126.1_RNA|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Missense_Mutation_p.V182L|AK1_ENST00000223836.10_Missense_Mutation_p.V198L	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						TGGGAGAAGACACTGTCCACG	0.662																																																0			9											85	77	79					9																	130630328		2203	4300	6503	129670149	SO:0001583	missense	203			J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"Adenylate kinases"	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.544G>C	9.37:g.130630328C>G	ENSP00000362271:p.Val182Leu		129670149		Missense_Mutation	SNP	ENST00000373176.1	37	CCDS6881.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755557	0.69648	.	.	ENSG00000106992	ENST00000373176;ENST00000373156;ENST00000223836	T;T;T	0.75367	-0.93;-0.93;-0.93	5.19	4.22	0.49857	.	0.058565	0.64402	D	0.000002	T	0.78207	0.4247	M	0.89353	3.025	0.53688	D	0.999975	P	0.45348	0.856	B	0.40285	0.325	D	0.84438	0.0581	10	0.87932	D	0	-28.5983	14.2577	0.66062	0.0:0.85:0.15:0.0	.	182	P00568	KAD1_HUMAN	L	182;182;198	ENSP00000362271:V182L;ENSP00000362249:V182L;ENSP00000223836:V198L	ENSP00000223836:V198L	V	-	1	0	AK1	129670149	0.996000	0.38824	0.995000	0.50966	0.998000	0.95712	3.553000	0.53713	2.579000	0.87056	0.655000	0.94253	GTC		0.662	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1			G	130630328	C	G	130630328	3	3	426	1	0	0	0	0	1	0	0	0	439	478	17	3	44	3	AK1	9	130630328	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09	2631334	130630328	10583103	33	23356											
SORCS1	114815	genome.wustl.edu	37	10	108439447	108439447	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr10:108439447A>T	ENST00000263054.6	-	11	1613	c.1606T>A	c.(1606-1608)Tac>Aac	p.Y536N	SORCS1_ENST00000369698.1_Missense_Mutation_p.Y71N|SORCS1_ENST00000344440.6_Missense_Mutation_p.Y536N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	536					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTGATGTGTAGGGATTCTCA	0.423																																																0			10											119	97	104					10																	108439447		2203	4300	6503	108429437	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1606T>A	10.37:g.108439447A>T	ENSP00000263054:p.Tyr536Asn		108429437	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.760866	0.89932	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.33654	1.4;1.4;1.4	6.17	6.17	0.99709	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.61763	0.2373	M	0.74881	2.28	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	T	0.61710	-0.7007	9	.	.	.	-20.6703	16.8222	0.85835	1.0:0.0:0.0:0.0	.	536;536;536;536;536	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	N	71;536;536	ENSP00000358712:Y71N;ENSP00000263054:Y536N;ENSP00000345964:Y536N	.	Y	-	1	0	SORCS1	108429437	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	TAC		0.423	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		T	108439447	A	T	108439447	3	4	426	1	0	0	0	0	1	0	0	0	14933	420	15	5	2198	5	SORCS1	10	108439447	Missense_Mutation	SNP	A	TCGA-61-1738-01A-01W-0639-09		108439447	27095300	34	23357											
LRP4	4038	genome.wustl.edu	37	11	46897369	46897369	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr11:46897369C>T	ENST00000378623.1	-	26	3927	c.3685G>A	c.(3685-3687)Gat>Aat	p.D1229N	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1229					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTGTGGGCATCGGCCCATAGC	0.597																																																0			11											106	80	89					11																	46897369		2201	4299	6500	46853945	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3685G>A	11.37:g.46897369C>T	ENSP00000367888:p.Asp1229Asn		46853945	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003552	0.93287	.	.	ENSG00000134569	ENST00000378623	D	0.93307	-3.2	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97704	1.0186	10	0.87932	D	0	.	19.8574	0.96764	0.0:1.0:0.0:0.0	.	1229	O75096	LRP4_HUMAN	N	1229	ENSP00000367888:D1229N	ENSP00000367888:D1229N	D	-	1	0	LRP4	46853945	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.662000	0.83803	2.704000	0.92352	0.555000	0.69702	GAT		0.597	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		T	46897369	C	T	46897369	3	4	426	1	0	0	0	0	1	0	0	0	8959	884	31	1	2084	1	LRP4	11	46897369	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09		46897369	88109147	35	23358											
SMTNL1	219537	genome.wustl.edu	37	11	57317542	57317542	+	Missense_Mutation	SNP	G	G	A	rs202111094	byFrequency	TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr11:57317542G>A	ENST00000399154.2	+	8	1331	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SMTNL1_ENST00000457912.1_Missense_Mutation_p.R499H|SMTNL1_ENST00000527972.1_Missense_Mutation_p.R481H			A8MU46	SMTL1_HUMAN	smoothelin-like 1	444	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Calmodulin-binding. {ECO:0000250}.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAACTGTACCGCAGCCTTGTG	0.582													G|||	3	0.000599042	8e-04	0	5008	,	,		20195	0		0	False		,,,				2504	0.002															0			11						G	HIS/ARG	5,4199		0,5,2097	56	58	57		1442	4.9	1	11		57	3,8453		0,3,4225	yes	missense	SMTNL1	NM_001105565.2	29	0,8,6322	AA,AG,GG		0.0355,0.1189,0.0632	probably-damaging	481/495	57317542	8,12652	2102	4228	6330	57074118	SO:0001583	missense	219537			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.1331G>A	11.37:g.57317542G>A	ENSP00000382108:p.Arg444His		57074118		Missense_Mutation	SNP	ENST00000399154.2	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.193108	0.78902	0.001189	3.55E-4	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	D;D;D	0.95272	-3.66;-3.66;-3.66	4.89	4.89	0.63831	.	.	.	.	.	D	0.93759	0.8005	N	0.12831	0.26	0.36671	D	0.878521	D	0.89917	1.0	D	0.83275	0.996	D	0.94293	0.7530	9	0.31617	T	0.26	-9.6427	16.9894	0.86349	0.0:0.0:1.0:0.0	.	499	C9J621	.	H	499;481;444	ENSP00000406485:R499H;ENSP00000432651:R481H;ENSP00000382108:R444H	ENSP00000382108:R444H	R	+	2	0	SMTNL1	57074118	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.527000	0.67123	2.549000	0.85964	0.561000	0.74099	CGC		0.582	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		A	57317542	G	A	57317542	3	1	426	1	0	0	0	0	1	0	0	0	14818	1087	38	1	1526	1	SMTNL1	11	57317542	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	10420173	57317542	77688974	36	23359											
PLCB3	5331	genome.wustl.edu	37	11	64031527	64031527	+	Silent	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr11:64031527C>T	ENST00000540288.1	+	22	2698	c.2595C>T	c.(2593-2595)caC>caT	p.H865H	PLCB3_ENST00000279230.6_Silent_p.H865H|PLCB3_ENST00000325234.5_Silent_p.H798H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	865					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCATTAAGCACGTCAGCCTGA	0.677																																																0			11											54	61	58					11																	64031527		2201	4297	6498	63788103	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2595C>T	11.37:g.64031527C>T			63788103	A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	CCDS8064.1																																																																																				0.677	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			T	64031527	C	T	64031527	2	4	426	1	0	0	0	0	0	0	0	1	12029	535	19	1		1	PLCB3	11	64031527	Silent	SNP	C	TCGA-61-1738-01A-01W-0639-09	6713985	64031527	70974989	37	23360											
NAALAD2	10003	genome.wustl.edu	37	11	89914856	89914856	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr11:89914856G>A	ENST00000534061.1	+	17	2157	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.V610I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	643					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTTATACAAGTTGATCTTAA	0.274																																																0			11											33	37	35					11																	89914856		2200	4290	6490	89554504	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1927G>A	11.37:g.89914856G>A	ENSP00000432481:p.Val643Ile		89554504	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	5.180	0.218843	0.09810	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.57273	0.41;0.41	5.2	1.7	0.24286	Transferrin receptor-like, dimerisation domain (3);	0.607307	0.16177	N	0.226040	T	0.26882	0.0658	N	0.11000	0.08	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04796	-1.0926	9	.	.	.	-13.8546	6.2218	0.20685	0.2284:0.3951:0.3765:0.0	.	643	Q9Y3Q0	NALD2_HUMAN	I	643;610	ENSP00000432481:V643I;ENSP00000320083:V610I	.	V	+	1	0	NAALAD2	89554504	0.000000	0.05858	0.972000	0.41901	0.965000	0.64279	-0.198000	0.09505	0.656000	0.30886	0.650000	0.86243	GTT		0.274	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		A	89914856	G	A	89914856	3	1	426	1	0	0	0	0	1	0	0	0	10128	1029	36	2	1993	2	NAALAD2	11	89914856	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	25883329	89914856	45091660	38	23361											
CEP164	22897	genome.wustl.edu	37	11	117253563	117253563	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr11:117253563T>A	ENST00000278935.3	+	14	1776	c.1629T>A	c.(1627-1629)caT>caA	p.H543Q	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	543	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGAGCAGCATTCCCAGGCCG	0.597																																																0			11											73	70	71					11																	117253563		2201	4296	6497	116758773	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1629T>A	11.37:g.117253563T>A	ENSP00000278935:p.His543Gln		116758773	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	T	3.107	-0.183534	0.06340	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.56941	0.43	4.27	-1.41	0.08941	.	1.018410	0.07855	N	0.965275	T	0.33352	0.0860	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17268	0.012;0.021;0.021	B;B;B	0.14023	0.003;0.01;0.01	T	0.19712	-1.0297	10	0.17832	T	0.49	2.3711	4.1978	0.10452	0.0:0.4224:0.1695:0.4081	.	517;543;546	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	Q	543;517	ENSP00000278935:H543Q	ENSP00000278935:H543Q	H	+	3	2	CEP164	116758773	0.000000	0.05858	0.006000	0.13384	0.735000	0.41995	-0.527000	0.06200	-0.315000	0.08703	-0.177000	0.13119	CAT		0.597	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		A	117253563	T	A	117253563	3	1	426	1	0	0	0	0	1	0	0	0	3249	1490	52	5	1675	5	CEP164	11	117253563	Missense_Mutation	SNP	T	TCGA-61-1738-01A-01W-0639-09	27338707	117253563	17752953	39	23362											
SCN8A	6334	genome.wustl.edu	37	12	52093371	52093371	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr12:52093371G>A	ENST00000354534.6	+	7	902	c.724G>A	c.(724-726)Ggt>Agt	p.G242S	SCN8A_ENST00000545061.1_Missense_Mutation_p.G242S|SCN8A_ENST00000550891.1_Missense_Mutation_p.G242S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	242					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GACAATTGTGGGTGCCCTGAT	0.542																																																0			12											88	86	86					12																	52093371		2097	4263	6360	50379638	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.724G>A	12.37:g.52093371G>A	ENSP00000346534:p.Gly242Ser		50379638	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185878	0.94885	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97	4.32	4.32	0.51571	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	L	0.52905	1.665	0.80722	D	1	D;P;P;D	0.89917	1.0;0.925;0.94;0.992	D;P;P;P	0.80764	0.994;0.798;0.83;0.887	D	0.99828	1.1052	10	0.87932	D	0	.	17.3774	0.87396	0.0:0.0:1.0:0.0	.	242;242;242;242	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	S	242;242;242;242;155;40	ENSP00000448415:G242S;ENSP00000346534:G242S;ENSP00000440360:G242S;ENSP00000347255:G242S;ENSP00000447567:G40S	ENSP00000346534:G242S	G	+	1	0	SCN8A	50379638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.400000	0.81607	0.650000	0.86243	GGT		0.542	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		A	52093371	G	A	52093371	3	1	426	1	0	0	0	0	1	0	0	0	13927	1232	43	2	746	2	SCN8A	12	52093371	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09		52093371	81758524	40	23363											
KRT76	51350	genome.wustl.edu	37	12	53170617	53170617	+	Silent	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr12:53170617C>T	ENST00000332411.2	-	1	512	c.459G>A	c.(457-459)ggG>ggA	p.G153G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	153	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGAATTCCCCCAGGAAAGC	0.582																																																0			12											116	137	130					12																	53170617		2203	4300	6503	51456884	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.459G>A	12.37:g.53170617C>T			51456884	B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	CCDS8838.1																																																																																				0.582	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		T	53170617	C	T	53170617	2	4	426	1	0	0	0	0	0	0	0	1	8489	610	22	2		2	KRT76	12	53170617	Silent	SNP	C	TCGA-61-1738-01A-01W-0639-09	1077246	53170617	80681278	41	23364											
OASL	8638	genome.wustl.edu	37	12	121469368	121469368	+	Silent	SNP	G	G	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr12:121469368G>A	ENST00000257570.5	-	3	804	c.534C>T	c.(532-534)atC>atT	p.I178I	OASL_ENST00000339275.5_Silent_p.I178I	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	178					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCAGGCCTTGATCAGGCTCA	0.557																																					Colon(192;517 2041 31392 31913 39966)											0			12											77	75	75					12																	121469368		2203	4300	6503	119953751	SO:0001819	synonymous_variant	8638			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.534C>T	12.37:g.121469368G>A			119953751	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Silent	SNP	ENST00000257570.5	37	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	G	5.294	0.239580	0.10023	.	.	ENSG00000135114	ENST00000543677	.	.	.	5.52	-2.0	0.07433	.	.	.	.	.	T	0.38612	0.1047	.	.	.	0.38845	D	0.956153	.	.	.	.	.	.	T	0.30765	-0.9967	4	.	.	.	-16.9388	1.0502	0.01578	0.1641:0.1502:0.2404:0.4453	.	.	.	.	L	76	.	.	S	-	2	0	OASL	119953751	0.004000	0.15560	0.009000	0.14445	0.076000	0.17211	-0.164000	0.09983	-0.492000	0.06687	-0.311000	0.09066	TCA		0.557	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		A	121469368	G	A	121469368	2	1	426	1	0	0	0	0	0	0	0	1	10802	1280	45	2		2	OASL	12	121469368	Silent	SNP	G	TCGA-61-1738-01A-01W-0639-09	68298751	121469368	12382527	42	23365											
PTGR2	145482	genome.wustl.edu	37	14	74343823	74343823	+	Silent	SNP	A	A	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr14:74343823A>T	ENST00000555661.1	+	5	616	c.471A>T	c.(469-471)acA>acT	p.T157T	PTGR2_ENST00000553813.1_Silent_p.T23T|RP5-1021I20.4_ENST00000556551.2_Silent_p.T157T|PTGR2_ENST00000267568.4_Silent_p.T157T|PTGR2_ENST00000555228.1_Silent_p.T157T			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	157					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	CTAATAAGACAATGGTTGTCA	0.408																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)											0			14											141	135	137					14																	74343823		2203	4300	6503	73413576	SO:0001819	synonymous_variant	145482			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"zinc binding alcohol dehydrogenase domain containing 1"	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.471A>T	14.37:g.74343823A>T			73413576	Q3L8A4|Q6MZH8	Silent	SNP	ENST00000555661.1	37	CCDS9820.1																																																																																				0.408	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			T	74343823	A	T	74343823	2	4	426	1	0	0	0	0	0	0	0	1	12757	117	5	5		5	PTGR2	14	74343823	Silent	SNP	A	TCGA-61-1738-01A-01W-0639-09		74343823	33005717	43	23366											
GALK2	2585	genome.wustl.edu	37	15	49611854	49611854	+	Nonsense_Mutation	SNP	C	C	T	rs144322038		TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr15:49611854C>T	ENST00000560031.1	+	9	1328	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	GALK2_ENST00000559454.1_Nonsense_Mutation_p.R317*|GALK2_ENST00000543495.1_3'UTR|GALK2_ENST00000544523.1_Nonsense_Mutation_p.R317*|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000327171.3_Nonsense_Mutation_p.R330*|GALK2_ENST00000396509.2_Nonsense_Mutation_p.R317*			Q01415	GALK2_HUMAN	galactokinase 2	341					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CGAGGCTGCGCGAGTGCTCCA	0.507																																																0			15						C	stop/ARG,stop/ARG	0,4392		0,0,2196	92	84	86		988,1021	2.7	0.3	15	dbSNP_134	86	2,8588	1.2+/-3.3	0,2,4293	no	stop-gained,stop-gained	GALK2	NM_001001556.1,NM_002044.2	,	0,2,6489	TT,TC,CC		0.0233,0.0,0.0154	,	330/448,341/459	49611854	2,12980	2196	4295	6491	47399146	SO:0001587	stop_gained	2585				CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.1021C>T	15.37:g.49611854C>T	ENSP00000453129:p.Arg341*		47399146	Q7Z4Q4	Nonsense_Mutation	SNP	ENST00000560031.1	37	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	C	37	6.214194	0.97380	0.0	2.33E-4	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	.	.	.	5.89	2.65	0.31530	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.0092	14.4657	0.67482	0.5257:0.4743:0.0:0.0	.	.	.	.	X	330;341;317	.	ENSP00000316632:R330X	R	+	1	2	GALK2	47399146	0.948000	0.32251	0.300000	0.25030	0.989000	0.77384	2.199000	0.42715	0.754000	0.32968	0.655000	0.94253	CGA		0.507	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			T	49611854	C	T	49611854	4	4	426	1	0	0	0	0	0	1	0	0	6204	760	27	1	1079	1	GALK2	15	49611854	Nonsense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09		49611854	52919538	44	23367											
HYDIN	54768	genome.wustl.edu	37	16	70894688	70894688	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr16:70894688C>T	ENST00000393567.2	-	70	12044	c.11894G>A	c.(11893-11895)cGc>cAc	p.R3965H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3965					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCTGGGTTGCGCTGATGGCC	0.572																																																0			16											1	1	1					16																	70894688		1004	2219	3223	69452189	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11894G>A	16.37:g.70894688C>T	ENSP00000377197:p.Arg3965His		69452189	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836226	0.32421	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01854	4.6	5.69	0.519	0.17035	.	0.000000	0.33712	U	0.004628	T	0.05686	0.0149	M	0.64676	1.99	0.80722	D	1	D	0.63046	0.992	P	0.56278	0.795	T	0.26608	-1.0098	10	0.59425	D	0.04	.	6.9293	0.24432	0.0:0.6298:0.115:0.2553	.	3964	F8WD23	.	H	3965;3964	ENSP00000377197:R3965H	ENSP00000313052:R3964H	R	-	2	0	HYDIN	69452189	0.988000	0.35896	0.394000	0.26270	0.001000	0.01503	1.382000	0.34374	-0.099000	0.12263	-1.448000	0.01049	CGC		0.572	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70894688	C	T	70894688	3	4	426	1	0	0	0	0	1	0	0	0	7467	768	27	1	3539	1	HYDIN	16	70894688	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09		70894688	19460065	45	23368											
SGSM2	9905	genome.wustl.edu	37	17	2276756	2276756	+	Silent	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr17:2276756C>T	ENST00000426855.2	+	16	2089	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	SGSM2_ENST00000268989.3_Silent_p.I683I|SGSM2_ENST00000574563.1_Silent_p.I638I|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	638	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GCAGCAGCATCGACAGCCACG	0.672																																																0			17											79	65	69					17																	2276756		2203	4300	6503	2223506	SO:0001819	synonymous_variant	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1914C>T	17.37:g.2276756C>T			2223506	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	CCDS45570.1																																																																																				0.672	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		T	2276756	C	T	2276756	2	4	426	1	0	0	0	0	0	0	0	1	14226	874	31	1		1	SGSM2	17	2276756	Silent	SNP	C	TCGA-61-1738-01A-01W-0639-09		2276756	78918454	46	23369											
P2RX1	5023	genome.wustl.edu	37	17	3807287	3807287	+	Silent	SNP	G	G	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr17:3807287G>A	ENST00000225538.3	-	5	733	c.459C>T	c.(457-459)aaC>aaT	p.N153N		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	153					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TCACAGTGTCGTTGAAGGCCA	0.602																																																0			17											106	83	91					17																	3807287		2203	4300	6503	3754036	SO:0001819	synonymous_variant	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.459C>T	17.37:g.3807287G>A			3754036	Q9UK84	Silent	SNP	ENST00000225538.3	37	CCDS11040.1																																																																																				0.602	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		A	3807287	G	A	3807287	2	1	426	1	0	0	0	0	0	0	0	1	11339	1136	40	1		1	P2RX1	17	3807287	Silent	SNP	G	TCGA-61-1738-01A-01W-0639-09	1530531	3807287	77387923	47	23370											
TP53	7157	genome.wustl.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	17	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	7517819	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		7517819	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	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577094	G	A	7577094	3	1	426	1	0	0	0	0	1	0	0	0	16381	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09	3769807	7577094	73618116	48	23371											
FTSJ3	11325	genome.wustl.edu	37	17	61897305	61897305	+	IGR	SNP	C	C	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr17:61897305C>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.V801I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTGGCTACAACGTAGGTGACA	0.527																																																0			17											142	132	136					17																	61897305		2203	4300	6503	59251037	SO:0001628	intergenic_variant	117246			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897305C>T			59251037	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020734	0.75275	.	.	ENSG00000108592	ENST00000427159	T	0.41400	1.0	4.9	4.9	0.64082	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.000000	0.64402	D	0.000018	T	0.48909	0.1526	L	0.49455	1.56	0.50813	D	0.999896	D	0.69078	0.997	P	0.55011	0.766	T	0.43814	-0.9368	10	0.46703	T	0.11	-16.2566	11.3217	0.49426	0.0:0.8164:0.1836:0.0	.	801	Q8IY81	RRMJ3_HUMAN	I	801	ENSP00000396673:V801I	ENSP00000396673:V801I	V	-	1	0	FTSJ3	59251037	0.996000	0.38824	0.998000	0.56505	0.911000	0.54048	2.010000	0.40913	2.539000	0.85634	0.563000	0.77884	GTT		0.527	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		T	61897305	C	T	61897305	1	4	426	0	1	0	0	0	0	0	0	0	6089	536	19	1		1	FTSJ3	17	61897305	IGR	SNP	C	TCGA-61-1738-01A-01W-0639-09	54320211	61897305	19297905	49	23372											
PQLC1	80148	genome.wustl.edu	37	18	77679249	77679249	+	Silent	SNP	G	G	A	rs114428753	byFrequency	TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr18:77679249G>A	ENST00000397778.2	-	5	725	c.543C>T	c.(541-543)acC>acT	p.T181T	PQLC1_ENST00000409073.1_Silent_p.T98T|PQLC1_ENST00000357575.4_Silent_p.T163T|PQLC1_ENST00000590381.1_Intron	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	181	PQ-loop 2.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GCATGGCTTCGGTCAGCACAG	0.652													G|||	18	0.00359425	0.0129	0.0014	5008	,	,		17889	0		0	False		,,,				2504	0															0			18						G	,,	50,4356	50.9+/-86.3	0,50,2153	88	75	79		,489,543	-10.2	0.2	18	dbSNP_132	79	0,8600		0,0,4300	no	intron,coding-synonymous,coding-synonymous	PQLC1	NM_001146343.1,NM_001146345.1,NM_025078.4	,,	0,50,6453	AA,AG,GG		0.0,1.1348,0.3844	,,	,163/254,181/272	77679249	50,12956	2203	4300	6503	75780237	SO:0001819	synonymous_variant	80148			AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.543C>T	18.37:g.77679249G>A			75780237	B7Z7D9|G5E989|Q9H6D0	Silent	SNP	ENST00000397778.2	37	CCDS12020.1																																																																																				0.652	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		A	77679249	G	A	77679249	2	1	426	1	0	0	0	0	0	0	0	1	12421	1103	39	1		1	PQLC1	18	77679249	Silent	SNP	G	TCGA-61-1738-01A-01W-0639-09		77679249	397999	50	23373											
FCGBP	8857	genome.wustl.edu	37	19	40421180	40421180	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr19:40421180C>G	ENST00000221347.6	-	5	2748	c.2741G>C	c.(2740-2742)aGc>aCc	p.S914T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	914	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGTCTGGCTGCCCCGATG	0.692																																																0			19											20	21	21					19																	40421180		2202	4298	6500	45113020	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2741G>C	19.37:g.40421180C>G	ENSP00000221347:p.Ser914Thr		45113020	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852497	0.71719	.	.	ENSG00000090920	ENST00000221347	T	0.59224	0.28	4.83	2.69	0.31865	von Willebrand factor, type D domain (3);	0.185429	0.42548	D	0.000692	T	0.60287	0.2257	L	0.28400	0.85	0.26990	N	0.965154	D	0.71674	0.998	D	0.87578	0.998	T	0.52223	-0.8604	10	0.27785	T	0.31	.	10.1932	0.43039	0.0:0.8328:0.0:0.1672	.	914	Q9Y6R7	FCGBP_HUMAN	T	914	ENSP00000221347:S914T	ENSP00000221347:S914T	S	-	2	0	FCGBP	45113020	0.005000	0.15991	0.975000	0.42487	0.989000	0.77384	0.174000	0.16743	0.563000	0.29222	0.491000	0.48974	AGC		0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40421180	C	G	40421180	3	3	426	1	0	0	0	0	1	0	0	0	5778	797	28	3	13604	3	FCGBP	19	40421180	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09		40421180	18707803	51	23374											
ARHGAP35	2909	genome.wustl.edu	37	19	47423034	47423034	+	Nonsense_Mutation	SNP	A	A	T			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr19:47423034A>T	ENST00000404338.3	+	1	1102	c.1102A>T	c.(1102-1104)Aag>Tag	p.K368*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	368	FF 2.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AAAAGCCAAAAAGCTCTTAGA	0.448																																																0			19											66	64	64					19																	47423034		1862	4099	5961	52114874	SO:0001587	stop_gained	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1102A>T	19.37:g.47423034A>T	ENSP00000385720:p.Lys368*		52114874	A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	36	5.896085	0.97081	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.74	4.67	0.58626	.	0.097203	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.6014	11.713	0.51637	0.8524:0.1475:0.0:0.0	.	.	.	.	X	368	.	ENSP00000324820:K368X	K	+	1	0	ARHGAP35	52114874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.475000	0.53136	2.187000	0.69744	0.477000	0.44152	AAG		0.448	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		T	47423034	A	T	47423034	4	4	426	1	0	0	0	0	0	1	0	0	6795	15	1	5	1104	5	ARHGAP35	19	47423034	Nonsense_Mutation	SNP	A	TCGA-61-1738-01A-01W-0639-09	7001854	47423034	11705949	52	23375											
C21orf29	54084	genome.wustl.edu	37	21	45987842	45987842	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr21:45987842C>A	ENST00000323084.4	-	2	195	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	44					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCGCTTGTGGCGCCATCAGAA	0.597																																																0			21											62	56	58					21																	45987842		2203	4300	6503	44812270	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.130G>T	21.37:g.45987842C>A	ENSP00000321987:p.Ala44Ser		44812270		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	c	0.095	-1.161494	0.01673	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000341581	T	0.39592	1.07	4.88	-1.4	0.08968	Concanavalin A-like lectin/glucanase (1);	1.112690	0.06793	N	0.787278	T	0.28995	0.0720	L	0.45581	1.43	0.09310	N	0.999991	B	0.12630	0.006	B	0.04013	0.001	T	0.27434	-1.0074	10	0.07325	T	0.83	0.2249	5.7612	0.18201	0.1232:0.5092:0.0:0.3676	.	44	Q8WU66	TSEAR_HUMAN	S	44	ENSP00000321987:A44S	ENSP00000321987:A44S	A	-	1	0	TSPEAR	44812270	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.359000	0.20233	-0.099000	0.12263	-0.218000	0.12543	GCC		0.597	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		A	45987842	C	A	45987842	3	1	426	1	0	0	0	0	1	0	0	0	2124	768	27	3	1923	3	C21orf29	21	45987842	Missense_Mutation	SNP	C	TCGA-61-1738-01A-01W-0639-09		45987842	2142053	53	23376											
CELSR1	9620	genome.wustl.edu	37	22	46772988	46772988	+	Missense_Mutation	SNP	G	G	T	rs116079347	byFrequency	TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chr22:46772988G>T	ENST00000262738.3	-	24	7553	c.7554C>A	c.(7552-7554)ttC>ttA	p.F2518L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2518					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCCAATCACGAACACCAGCT	0.612													G|||	125	0.0249601	0.09	0.0086	5008	,	,		17992	0		0	False		,,,				2504	0															0			22						G	LEU/PHE	343,4063	177.6+/-206.5	11,321,1871	64	52	56		7554	0.9	0.8	22	dbSNP_132	56	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CELSR1	NM_014246.1	22	11,323,6169	TT,TG,GG		0.0233,7.7848,2.6526	probably-damaging	2518/3015	46772988	345,12661	2203	4300	6503	45151652	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7554C>A	22.37:g.46772988G>T	ENSP00000262738:p.Phe2518Leu		45151652	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846401	0.51164	0.077848	2.33E-4	ENSG00000075275	ENST00000262738	T	0.44482	0.92	4.67	0.883	0.19177	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000001	T	0.07369	0.0186	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.991	T	0.20306	-1.0279	10	0.72032	D	0.01	.	8.7801	0.34787	0.3752:0.0:0.6248:0.0	.	839;2518	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	2518	ENSP00000262738:F2518L	ENSP00000262738:F2518L	F	-	3	2	CELSR1	45151652	0.999000	0.42202	0.836000	0.33094	0.078000	0.17371	0.424000	0.21330	0.423000	0.26033	-0.350000	0.07774	TTC		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46772988	G	T	46772988	3	4	426	1	0	0	0	0	1	0	0	0	3221	1049	37	3	1538	3	CELSR1	22	46772988	Missense_Mutation	SNP	G	TCGA-61-1738-01A-01W-0639-09		46772988	4531578	54	23377											
PLXNA3	55558	genome.wustl.edu	37	X	153692568	153692568	+	Silent	SNP	G	G	A	rs186879417		TCGA-61-1738-01A-01W-0639-09	TCGA-61-1738-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	22fc11f7-fd86-4de0-8e21-ff4aea4e6f83	4a03326c-ccd1-4545-b569-8c4c45e38feb	g.chrX:153692568G>A	ENST00000369682.3	+	8	1915	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	580					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCGGCGGCGGAGAACGAGG	0.692													g|||	1	0.000264901	8e-04	0	3775	,	,		11729	0		0	False		,,,				2504	0															0			X								2,3824		0,2,1628,566	27	25	26		1740	-10.7	0	X		26	0,6719		0,0,2427,1865	no	coding-synonymous	PLXNA3	NM_017514.3		0,2,4055,2431	AA,AG,GG,G		0.0,0.0523,0.019		580/1872	153692568	2,10543	2196	4292	6488	153345762	SO:0001819	synonymous_variant	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1740G>A	X.37:g.153692568G>A			153345762	Q5HY36	Silent	SNP	ENST00000369682.3	37	CCDS14752.1																																																																																				0.692	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		A	153692568	G	A	153692568	2	1	426	1	0	0	0	0	0	0	0	1	12121	1103	39	1		1	PLXNA3	23	153692568	Silent	SNP	G	TCGA-61-1738-01A-01W-0639-09		153692568	1577992	55	23378											
LUZP1	7798	genome.wustl.edu	37	1	23418181	23418181	+	Silent	SNP	C	C	T	rs556348151		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:23418181C>T	ENST00000302291.4	-	4	3375	c.2574G>A	c.(2572-2574)gcG>gcA	p.A858A	LUZP1_ENST00000418342.1_Silent_p.A858A|LUZP1_ENST00000314174.5_Silent_p.A858A|LUZP1_ENST00000374623.3_Silent_p.A858A			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	858					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCATTCTCTCCGCTTCTGCAA	0.537													C|||	1	0.000199681	0	0	5008	,	,		19752	0.001		0	False		,,,				2504	0															0			1											102	99	100					1																	23418181		2203	4300	6503	23290768	SO:0001819	synonymous_variant	7798			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2574G>A	1.37:g.23418181C>T			23290768	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	CCDS30628.1																																																																																				0.537	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		T	23418181	C	T	23418181	2	4	427	1	0	0	0	0	0	0	0	1	9086	639	23	1		1	LUZP1	1	23418181	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09		23418181	225832440	1	23379											
CNKSR1	10256	genome.wustl.edu	37	1	26515325	26515325	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:26515325C>T	ENST00000374253.5	+	20	1813	c.1774C>T	c.(1774-1776)Cta>Tta	p.L592L	CNKSR1_ENST00000531191.1_Silent_p.L327L|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Silent_p.L585L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	592					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTCCCTCCTAGGCCAGCC	0.642																																					NSCLC(180;1396 2109 28270 30756 34275)											0			1											45	55	52					1																	26515325		2203	4299	6502	26387912	SO:0001819	synonymous_variant	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1774C>T	1.37:g.26515325C>T			26387912	B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37																																																																																					0.642	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		T	26515325	C	T	26515325	2	4	427	1	0	0	0	0	0	0	0	1	3606	680	24	2		2	CNKSR1	1	26515325	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	3097144	26515325	222735296	2	23380											
FAM46B	115572	genome.wustl.edu	37	1	27333172	27333172	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:27333172A>G	ENST00000289166.5	-	2	706	c.541T>C	c.(541-543)Tgc>Cgc	p.C181R		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	181										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GAGTCTGTGCACACTTTCACC	0.577																																																0			1											137	133	134					1																	27333172		2203	4300	6503	27205759	SO:0001583	missense	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.541T>C	1.37:g.27333172A>G	ENSP00000289166:p.Cys181Arg		27205759		Missense_Mutation	SNP	ENST00000289166.5	37	CCDS294.2	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784021	0.70222	.	.	ENSG00000158246	ENST00000289166	T	0.24151	1.87	5.2	5.2	0.72013	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53634	-0.8411	10	0.29301	T	0.29	-33.2586	15.2153	0.73261	1.0:0.0:0.0:0.0	.	181	Q96A09	FA46B_HUMAN	R	181	ENSP00000289166:C181R	ENSP00000289166:C181R	C	-	1	0	FAM46B	27205759	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.985000	0.70556	2.178000	0.69098	0.459000	0.35465	TGC		0.577	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		G	27333172	A	G	27333172	3	3	427	1	0	0	0	0	1	0	0	0	5566	159	6	4	740	4	FAM46B	1	27333172	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	817847	27333172	221917449	3	23381											
STX12	23673	genome.wustl.edu	37	1	28148833	28148833	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:28148833C>G	ENST00000373943.4	+	9	949	c.824C>G	c.(823-825)aCg>aGg	p.T275R	RNU6-1245P_ENST00000411130.1_RNA|RP3-426I6.6_ENST00000602843.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	275					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTATAAAACGAAGTGATTG	0.418																																					Ovarian(5;5 342 2097 9488 34083)											0			1											145	137	140					1																	28148833		2203	4300	6503	28021420	SO:0001583	missense	23673			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.824C>G	1.37:g.28148833C>G	ENSP00000363054:p.Thr275Arg		28021420	B1AJQ7|O95564	Missense_Mutation	SNP	ENST00000373943.4	37	CCDS310.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536549	0.45176	.	.	ENSG00000117758	ENST00000373943	T	0.32753	1.44	5.09	3.97	0.46021	.	1.004430	0.08010	N	0.990241	T	0.15955	0.0384	N	0.08118	0	0.22581	N	0.998968	B	0.18166	0.026	B	0.16289	0.015	T	0.33007	-0.9885	10	0.15952	T	0.53	-11.2491	7.8451	0.29421	0.0:0.1009:0.0:0.8991	.	275	Q86Y82	STX12_HUMAN	R	275	ENSP00000363054:T275R	ENSP00000363054:T275R	T	+	2	0	STX12	28021420	0.993000	0.37304	0.976000	0.42696	0.647000	0.38526	1.653000	0.37323	0.781000	0.33589	0.557000	0.71058	ACG		0.418	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		G	28148833	C	G	28148833	3	3	427	1	0	0	0	0	1	0	0	0	15340	536	19	3	858	3	STX12	1	28148833	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	815661	28148833	221101788	4	23382											
ERMAP	114625	genome.wustl.edu	37	1	43308770	43308770	+	Missense_Mutation	SNP	C	C	G	rs375385333		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:43308770C>G	ENST00000372517.2	+	12	1539	c.1295C>G	c.(1294-1296)gCt>gGt	p.A432G	RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000328249.3_Missense_Mutation_p.A342G|RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372514.3_Missense_Mutation_p.A432G	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	432			Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAAGGCCATGCTAATGGAGAT	0.493																																																0			1											102	101	102					1																	43308770		2203	4300	6503	43081357	SO:0001583	missense	114625			AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"Blood group antigens", "Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	15743	protein-coding gene	gene with protein product		609017	"Radin blood group", "Scianna blood group", "erythroblast membrane-associated protein", "erythroblast membrane-associated protein (RD and SC blood groups)"	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.1295C>G	1.37:g.43308770C>G	ENSP00000361595:p.Ala432Gly		43081357	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	4.721	0.134009	0.09032	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.55234	0.78;0.78;0.53	5.34	3.39	0.38822	.	0.125544	0.36482	N	0.002579	T	0.37320	0.0999	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.15052	0.012	T	0.12066	-1.0562	10	0.36615	T	0.2	.	8.8787	0.35360	0.0:0.7604:0.1542:0.0853	.	432	Q96PL5	ERMAP_HUMAN	G	432;432;342	ENSP00000361595:A432G;ENSP00000361592:A432G;ENSP00000332439:A342G	ENSP00000332439:A342G	A	+	2	0	ERMAP	43081357	0.251000	0.23961	0.402000	0.26371	0.103000	0.19146	2.302000	0.43637	2.780000	0.95670	0.655000	0.94253	GCT		0.493	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		G	43308770	C	G	43308770	3	3	427	1	0	0	0	0	1	0	0	0	5234	797	28	3	1333	3	ERMAP	1	43308770	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	15159937	43308770	205941851	5	23383											
CYP4B1	1580	genome.wustl.edu	37	1	47264867	47264867	+	Silent	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:47264867G>T	ENST00000271153.4	+	1	150	c.114G>T	c.(112-114)acG>acT	p.T38T	CYP4B1_ENST00000371919.4_Silent_p.T38T|CYP4B1_ENST00000546128.1_Intron|CYP4B1_ENST00000371923.4_Silent_p.T38T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	38					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GGAGGCAGACGTTGGCTAAGG	0.582																																																0			1											68	57	61					1																	47264867		2203	4300	6503	47037454	SO:0001819	synonymous_variant	1580			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.114G>T	1.37:g.47264867G>T			47037454	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	CCDS542.1																																																																																				0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		T	47264867	G	T	47264867	2	4	427	1	0	0	0	0	0	0	0	1	4185	1132	40	3		3	CYP4B1	1	47264867	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	3956097	47264867	201985754	6	23384											
PCSK9	255738	genome.wustl.edu	37	1	55512280	55512280	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:55512280A>T	ENST00000302118.5	+	3	774	c.484A>T	c.(484-486)Acc>Tcc	p.T162S	PCSK9_ENST00000452118.2_Missense_Mutation_p.T162S|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	162					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGAGCGGATTACCCCTCCACG	0.602																																					Pancreas(137;1454 1827 5886 22361 42375)											0			1											75	74	74					1																	55512280		2203	4300	6503	55284868	SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.484A>T	1.37:g.55512280A>T	ENSP00000303208:p.Thr162Ser		55284868	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120580	0.37436	.	.	ENSG00000169174	ENST00000302118;ENST00000452118	T;T	0.74315	-0.83;-0.47	4.73	-6.14	0.02111	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.525640	0.17935	N	0.157043	T	0.33614	0.0869	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	10	0.21540	T	0.41	-0.0541	1.5118	0.02497	0.13:0.287:0.1513:0.4316	.	162	Q8NBP7	PCSK9_HUMAN	S	162	ENSP00000303208:T162S;ENSP00000401598:T162S	ENSP00000303208:T162S	T	+	1	0	PCSK9	55284868	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.119000	0.10676	-1.070000	0.03149	0.459000	0.35465	ACC		0.602	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		T	55512280	A	T	55512280	3	4	427	1	0	0	0	0	1	0	0	0	11606	391	14	5	494	5	PCSK9	1	55512280	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	8247413	55512280	193738341	7	23385											
PRKAA2	5563	genome.wustl.edu	37	1	57159472	57159472	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:57159472G>C	ENST00000371244.4	+	5	576	c.510G>C	c.(508-510)ctG>ctC	p.L170L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GTGAATTTCTGAGAACTAGTT	0.308																																																0			1											121	130	127					1																	57159472		2203	4300	6503	56932060	SO:0001819	synonymous_variant	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.510G>C	1.37:g.57159472G>C			56932060	Q9H1E8|Q9UD43	Silent	SNP	ENST00000371244.4	37	CCDS605.1																																																																																				0.308	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		C	57159472	G	C	57159472	2	2	427	1	0	0	0	0	0	0	0	1	12497	1277	45	3		3	PRKAA2	1	57159472	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	1647192	57159472	192091149	8	23386											
TYW3	127253	genome.wustl.edu	37	1	75229700	75229700	+	Missense_Mutation	SNP	G	G	A	rs544642809		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:75229700G>A	ENST00000370867.3	+	6	772	c.683G>A	c.(682-684)cGt>cAt	p.R228H	TYW3_ENST00000421739.2_Missense_Mutation_p.R144H|TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000479111.1_Missense_Mutation_p.R108H|TYW3_ENST00000457880.2_Missense_Mutation_p.R195H	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	228					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GAAAAAACACGTGCCCAGTGT	0.338													G|||	1	0.000199681	8e-04	0	5008	,	,		16097	0		0	False		,,,				2504	0															0			1											109	112	111					1																	75229700		2203	4300	6503	75002288	SO:0001583	missense	127253			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"chromosome 1 open reading frame 171"	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.683G>A	1.37:g.75229700G>A	ENSP00000359904:p.Arg228His		75002288	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	CCDS666.1	.	.	.	.	.	.	.	.	.	.	G	3.024	-0.201222	0.06219	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T	0.46451	0.87;1.46	5.3	-10.6	0.00265	.	2.292820	0.01174	N	0.006927	T	0.07052	0.0179	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.07028	-1.0794	10	0.37606	T	0.19	20.5665	9.2319	0.37441	0.3392:0.1823:0.4785:0.0	.	144;195;228	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	H	195;228;144	ENSP00000407025:R195H;ENSP00000359904:R228H	ENSP00000359904:R228H	R	+	2	0	TYW3	75002288	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.613000	0.00208	-2.156000	0.00790	-1.851000	0.00568	CGT		0.338	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		A	75229700	G	A	75229700	3	1	427	1	0	0	0	0	1	0	0	0	16820	1145	40	1	705	1	TYW3	1	75229700	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	18070228	75229700	174020921	9	23387											
GBP5	115362	genome.wustl.edu	37	1	89730537	89730537	+	Silent	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:89730537T>C	ENST00000370459.3	-	7	1108	c.981A>G	c.(979-981)caA>caG	p.Q327Q	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.Q327Q|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	327						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAATGGCCTTTTGCACTGCAG	0.562																																																0			1											100	87	91					1																	89730537		2203	4300	6503	89503125	SO:0001819	synonymous_variant	115362			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.981A>G	1.37:g.89730537T>C			89503125	B2RCE1|Q86TM5	Silent	SNP	ENST00000370459.3	37	CCDS722.1																																																																																				0.562	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		C	89730537	T	C	89730537	2	2	427	1	0	0	0	0	0	0	0	1	6277	1838	64	4		4	GBP5	1	89730537	Silent	SNP	T	TCGA-61-1740-01A-01W-0639-09	14500837	89730537	159520084	10	23388											
GBP6	163351	genome.wustl.edu	37	1	89834164	89834164	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:89834164T>G	ENST00000370456.4	+	2	147	c.54T>G	c.(52-54)aaT>aaG	p.N18K	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	18	GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AAAATAACAATGAGCAGCTAT	0.468																																																0			1											128	122	124					1																	89834164		2203	4300	6503	89606752	SO:0001583	missense	163351			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.54T>G	1.37:g.89834164T>G	ENSP00000359485:p.Asn18Lys		89606752	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	CCDS723.1	.	.	.	.	.	.	.	.	.	.	T	6.657	0.489800	0.12702	.	.	ENSG00000183347	ENST00000544311;ENST00000370456	T	0.74002	-0.8	4.46	-6.57	0.01842	Guanylate-binding protein, N-terminal (1);	0.394474	0.25091	N	0.033210	T	0.26919	0.0659	L	0.31476	0.935	0.09310	N	0.999998	B	0.11235	0.004	B	0.13407	0.009	T	0.20773	-1.0265	10	0.27785	T	0.31	-21.7844	2.3038	0.04169	0.2474:0.4094:0.1299:0.2133	.	18	Q6ZN66	GBP6_HUMAN	K	18	ENSP00000359485:N18K	ENSP00000359485:N18K	N	+	3	2	GBP6	89606752	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.399000	0.00484	-1.544000	0.01721	-2.374000	0.00234	AAT		0.468	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		G	89834164	T	G	89834164	3	3	427	1	0	0	0	0	1	0	0	0	6278	1461	51	5	56	5	GBP6	1	89834164	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	103627	89834164	159416457	11	23389											
ZNF644	84146	genome.wustl.edu	37	1	91403958	91403958	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:91403958G>T	ENST00000370440.1	-	3	3170	c.2953C>A	c.(2953-2955)Cat>Aat	p.H985N	ZNF644_ENST00000337393.5_Missense_Mutation_p.H985N|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	985					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGTGAAGATGCCCCCTGACA	0.423																																																0			1											119	105	110					1																	91403958		2202	4300	6502	91176546	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2953C>A	1.37:g.91403958G>T	ENSP00000359469:p.His985Asn		91176546	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560782	0.65538	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.41758	0.99;0.99	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.52909	-0.8512	10	0.87932	D	0	-11.6864	19.888	0.96917	0.0:0.0:1.0:0.0	.	985	Q9H582	ZN644_HUMAN	N	985;985;557	ENSP00000359469:H985N;ENSP00000337008:H985N	ENSP00000337008:H985N	H	-	1	0	ZNF644	91176546	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.720000	0.93068	0.591000	0.81541	CAT		0.423	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		T	91403958	G	T	91403958	3	4	427	1	0	0	0	0	1	0	0	0	18060	1319	46	3	1046	3	ZNF644	1	91403958	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	1569794	91403958	157846663	12	23390											
PI4KB	5298	genome.wustl.edu	37	1	151278826	151278826	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:151278826A>C	ENST00000368873.1	-	5	1364	c.1196T>G	c.(1195-1197)aTt>aGt	p.I399S	PI4KB_ENST00000529142.1_Missense_Mutation_p.I67S|PI4KB_ENST00000368872.1_Missense_Mutation_p.I384S|PI4KB_ENST00000368875.2_Missense_Mutation_p.I411S|PI4KB_ENST00000368874.4_Missense_Mutation_p.I384S|PI4KB_ENST00000271657.5_Missense_Mutation_p.I411S			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	399					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCCACATAAATCAGGTAGGG	0.493																																					Colon(154;765 1838 9854 28443 37492)											0			1											46	44	45					1																	151278826		2203	4300	6503	149545450	SO:0001583	missense	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1196T>G	1.37:g.151278826A>C	ENSP00000357867:p.Ile399Ser		149545450	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	A	25.9	4.685414	0.88639	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800;ENST00000489223	D;D;D;D;D;D;T;T	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;1.85;1.85	5.78	5.78	0.91487	Protein kinase-like domain (1);	0.095327	0.64402	D	0.000001	D	0.89022	0.6597	M	0.77616	2.38	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.991	D;D;P	0.71414	0.961;0.973;0.828	D	0.90702	0.4621	10	0.87932	D	0	-17.1984	14.9271	0.70887	1.0:0.0:0.0:0.0	.	399;384;67	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	S	384;411;411;399;67;384;67;67	ENSP00000357868:I384S;ENSP00000357869:I411S;ENSP00000271657:I411S;ENSP00000357867:I399S;ENSP00000433149:I67S;ENSP00000357866:I384S;ENSP00000413599:I67S;ENSP00000431501:I67S	ENSP00000271657:I411S	I	-	2	0	PI4KB	149545450	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.852000	0.92215	2.197000	0.70478	0.528000	0.53228	ATT		0.493	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		C	151278826	A	C	151278826	3	2	427	1	0	0	0	0	1	0	0	0	11874	101	4	5	1286	5	PI4KB	1	151278826	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	59874868	151278826	97971795	13	23391											
ZBTB7B	51043	genome.wustl.edu	37	1	154987672	154987672	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:154987672A>G	ENST00000368426.3	+	3	673	c.536A>G	c.(535-537)gAc>gGc	p.D179G	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D179G|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D213G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D179G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	179					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AATGGTGAAGACAGTCCTCCA	0.652																																																0			1											43	44	44					1																	154987672		2202	4297	6499	153254296	SO:0001583	missense	51043			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.536A>G	1.37:g.154987672A>G	ENSP00000357411:p.Asp179Gly		153254296	B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162563	0.38217	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09350	3.02;3.02;2.99;3.02	4.09	4.09	0.47781	.	0.618193	0.15530	N	0.257527	T	0.02267	0.0070	N	0.24115	0.695	0.30057	N	0.811271	P;P;P	0.38504	0.634;0.634;0.634	B;B;B	0.32393	0.145;0.145;0.145	T	0.43734	-0.9373	10	0.22109	T	0.4	.	11.0415	0.47833	1.0:0.0:0.0:0.0	.	179;179;213	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	G	179;179;213;179	ENSP00000438647:D179G;ENSP00000357411:D179G;ENSP00000406286:D213G;ENSP00000292176:D179G	ENSP00000292176:D179G	D	+	2	0	ZBTB7B	153254296	0.893000	0.30496	1.000000	0.80357	0.745000	0.42441	1.909000	0.39917	1.709000	0.51313	0.379000	0.24179	GAC		0.652	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		G	154987672	A	G	154987672	3	3	427	1	0	0	0	0	1	0	0	0	17554	275	10	4	538	4	ZBTB7B	1	154987672	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	3708846	154987672	94262949	14	23392											
ARHGEF2	9181	genome.wustl.edu	37	1	155931921	155931921	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:155931921G>A	ENST00000361247.4	-	10	1293	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	ARHGEF2_ENST00000313667.4_Silent_p.I397I|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Silent_p.I443I|ARHGEF2_ENST00000368316.1_Silent_p.I370I|ARHGEF2_ENST00000313695.7_Silent_p.I370I|ARHGEF2_ENST00000368315.4_Silent_p.I399I	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	398	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGATGCGGCTGATGAGTAACG	0.627																																					Melanoma(178;35 2768 6610 28839)											0			1											71	73	72					1																	155931921		2203	4300	6503	154198545	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1194C>T	1.37:g.155931921G>A			154198545	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	CCDS53376.1																																																																																				0.627	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		A	155931921	G	A	155931921	2	1	427	1	0	0	0	0	0	0	0	1	903	1280	45	2		2	ARHGEF2	1	155931921	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	944249	155931921	93318700	15	23393											
AIM2	9447	genome.wustl.edu	37	1	159033332	159033332	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:159033332G>T	ENST00000368130.4	-	5	1237	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	317	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTTGACAGTGTGAAGAAT	0.428																																																0			1											253	238	243					1																	159033332		2203	4300	6503	157299956	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.949C>A	1.37:g.159033332G>T	ENSP00000357112:p.Leu317Met		157299956	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285608	0.40394	.	.	ENSG00000163568	ENST00000368130	T	0.32515	1.45	3.92	0.777	0.18538	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.394162	0.14939	N	0.289652	T	0.33614	0.0869	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.07809	-1.0753	10	0.72032	D	0.01	-3.0372	5.8011	0.18414	0.1148:0.3927:0.4925:0.0	.	317	O14862	AIM2_HUMAN	M	317	ENSP00000357112:L317M	ENSP00000357112:L317M	L	-	1	2	AIM2	157299956	0.001000	0.12720	0.004000	0.12327	0.028000	0.11728	-0.032000	0.12266	0.049000	0.15920	0.561000	0.74099	CTG		0.428	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		T	159033332	G	T	159033332	3	4	427	1	0	0	0	0	1	0	0	0	432	1020	36	3	90	3	AIM2	1	159033332	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	3101411	159033332	90217289	16	23394											
ATP1A4	480	genome.wustl.edu	37	1	160151550	160151550	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:160151550C>T	ENST00000368081.4	+	19	3284	c.2813C>T	c.(2812-2814)gCg>gTg	p.A938V	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.A74V	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	938					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCAGTGGGCGGATCTCATC	0.522																																																0			1											184	184	184					1																	160151550		2203	4300	6503	158418174	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2813C>T	1.37:g.160151550C>T	ENSP00000357060:p.Ala938Val		158418174	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798254	0.50208	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.95885	-3.84;-3.84	4.04	3.1	0.35709	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.116715	0.56097	D	0.000029	D	0.96614	0.8895	M	0.89658	3.05	0.47905	D	0.999547	D	0.76494	0.999	D	0.64237	0.923	D	0.96073	0.9047	10	0.87932	D	0	.	6.9896	0.24748	0.1997:0.6068:0.1936:0.0	.	938	Q13733	AT1A4_HUMAN	V	938;74	ENSP00000357060:A938V;ENSP00000433094:A74V	ENSP00000357060:A938V	A	+	2	0	ATP1A4	158418174	0.998000	0.40836	0.998000	0.56505	0.203000	0.24098	3.749000	0.55150	1.005000	0.39183	0.455000	0.32223	GCG		0.522	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		T	160151550	C	T	160151550	3	4	427	1	0	0	0	0	1	0	0	0	1131	768	27	1	2887	1	ATP1A4	1	160151550	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	1118218	160151550	89099071	17	23395											
SLC9A11	284525	genome.wustl.edu	37	1	173545851	173545851	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:173545851A>C	ENST00000367714.3	-	8	1273	c.851T>G	c.(850-852)cTg>cGg	p.L284R	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.L182R	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	284					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ATCTAAATTCAGTCCTACAGC	0.368																																																0			1											71	71	71					1																	173545851		2203	4300	6503	171812474	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.851T>G	1.37:g.173545851A>C	ENSP00000356687:p.Leu284Arg		171812474	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916669	0.73098	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.16457	2.34;2.34	5.48	5.48	0.80851	Cation/H+ exchanger (1);	0.000000	0.43579	D	0.000555	T	0.27731	0.0682	M	0.65498	2.005	0.31234	N	0.695925	D	0.89917	1.0	D	0.97110	1.0	T	0.14090	-1.0485	10	0.87932	D	0	-19.2667	11.9977	0.53212	1.0:0.0:0.0:0.0	.	284	Q5TAH2	S9A11_HUMAN	R	284;182	ENSP00000356687:L284R;ENSP00000445437:L182R	ENSP00000356687:L284R	L	-	2	0	SLC9A11	171812474	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.102000	0.57776	2.081000	0.62600	0.533000	0.62120	CTG		0.368	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		C	173545851	A	C	173545851	3	2	427	1	0	0	0	0	1	0	0	0	14714	188	7	5	2607	5	SLC9A11	1	173545851	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	13394301	173545851	75704770	18	23396											
CACNA1E	777	genome.wustl.edu	37	1	181745305	181745305	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:181745305G>C	ENST00000367573.2	+	38	5208	c.5208G>C	c.(5206-5208)ctG>ctC	p.L1736L	CACNA1E_ENST00000367570.1_Silent_p.L1736L|CACNA1E_ENST00000358338.5_Silent_p.L1668L|CACNA1E_ENST00000367567.4_Silent_p.L1343L|CACNA1E_ENST00000360108.3_Silent_p.L1717L|CACNA1E_ENST00000526775.1_Silent_p.L1717L|CACNA1E_ENST00000357570.5_Silent_p.L1687L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1736					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTCCATCCTGGGGCCTCACC	0.607																																																0			1											155	158	157					1																	181745305		1992	4190	6182	180011928	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5208G>C	1.37:g.181745305G>C			180011928	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.607	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		C	181745305	G	C	181745305	2	2	427	1	0	0	0	0	0	0	0	1	2542	1335	47	3		3	CACNA1E	1	181745305	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	8199454	181745305	67505316	19	23397											
IRF6	3664	genome.wustl.edu	37	1	209969762	209969762	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:209969762G>A	ENST00000367021.3	-	4	482	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	IRF6_ENST00000542854.1_Missense_Mutation_p.P9S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	104					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGGTTCATGGGCACCTCCTTG	0.552										HNSCC(57;0.16)																																						0			1											125	112	116					1																	209969762		2203	4300	6503	208036385	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.310C>T	1.37:g.209969762G>A	ENSP00000355988:p.Pro104Ser		208036385	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988038	0.93106	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.99671	-4.51;-6.35;-4.51	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	L	0.54908	1.71	0.80722	D	1	D	0.60575	0.988	D	0.69824	0.966	D	0.99712	1.1007	9	.	.	.	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	104	O14896	IRF6_HUMAN	S	104;9;104	ENSP00000355988:P104S;ENSP00000440532:P9S;ENSP00000403855:P104S	.	P	-	1	0	IRF6	208036385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.247000	0.95444	2.652000	0.90054	0.655000	0.94253	CCC		0.552	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		A	209969762	G	A	209969762	3	1	427	1	0	0	0	0	1	0	0	0	7834	1203	42	2	1117	2	IRF6	1	209969762	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	28224457	209969762	39280859	20	23398											
CENPF	1063	genome.wustl.edu	37	1	214813866	214813866	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:214813866A>T	ENST00000366955.3	+	12	2353	c.2185A>T	c.(2185-2187)Act>Tct	p.T729S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTCTCAGCTTACTGGGCAAGT	0.398																																					Colon(80;575 1284 11000 14801 43496)											0			1											67	68	68					1																	214813866		2203	4300	6503	212880489	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2185A>T	1.37:g.214813866A>T	ENSP00000355922:p.Thr729Ser		212880489	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249825	0.39797	.	.	ENSG00000117724	ENST00000366955	T	0.03635	3.86	5.81	4.65	0.58169	.	0.000000	0.39210	N	0.001421	T	0.10035	0.0246	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	T	0.21348	-1.0248	9	0.32370	T	0.25	.	4.809	0.13333	0.7183:0.0:0.1409:0.1408	.	729	P49454	CENPF_HUMAN	S	729	ENSP00000355922:T729S	ENSP00000355922:T729S	T	+	1	0	CENPF	212880489	0.002000	0.14202	0.433000	0.26760	0.997000	0.91878	1.677000	0.37576	0.973000	0.38340	0.496000	0.49642	ACT		0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214813866	A	T	214813866	3	4	427	1	0	0	0	0	1	0	0	0	3231	391	14	5	2227	5	CENPF	1	214813866	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	4844104	214813866	34436755	21	23399											
NUP133	55746	genome.wustl.edu	37	1	229622190	229622190	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:229622190C>T	ENST00000261396.3	-	11	1519	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	NUP133_ENST00000537506.1_Silent_p.R460R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	476					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACACATTTTCCCTTGAAGTAA	0.398																																																0			1											108	110	109					1																	229622190		2203	4300	6503	227688813	SO:0001819	synonymous_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1428G>A	1.37:g.229622190C>T			227688813	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	CCDS1579.1																																																																																				0.398	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		T	229622190	C	T	229622190	2	4	427	1	0	0	0	0	0	0	0	1	10754	622	22	2		2	NUP133	1	229622190	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	14808324	229622190	19628431	22	23400											
SLC35F3	148641	genome.wustl.edu	37	1	234367197	234367197	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:234367197G>A	ENST00000366617.3	+	2	339	c.111G>A	c.(109-111)gcG>gcA	p.A37A	SLC35F3_ENST00000366618.3_Silent_p.A106A			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	37					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGGGCCCGGCGGAGGCCCAGG	0.736																																																0			1											11	15	13					1																	234367197		2146	4169	6315	232433820	SO:0001819	synonymous_variant	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.111G>A	1.37:g.234367197G>A			232433820	Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37																																																																																					0.736	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		A	234367197	G	A	234367197	2	1	427	1	0	0	0	0	0	0	0	1	14593	1103	39	1		1	SLC35F3	1	234367197	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	4745007	234367197	14883424	23	23401											
LYST	1130	genome.wustl.edu	37	1	235929573	235929573	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:235929573T>C	ENST00000389794.3	-	21	6101	c.5927A>G	c.(5926-5928)tAc>tGc	p.Y1976C	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.Y1976C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1976					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCCCTCTTTGTATTCCTGAAA	0.323																																																0			1											72	81	78					1																	235929573		2203	4300	6503	233996196	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5927A>G	1.37:g.235929573T>C	ENSP00000374444:p.Tyr1976Cys		233996196	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552509	0.45487	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61510	0.1;0.1	4.91	4.91	0.64330	.	0.158997	0.56097	D	0.000024	T	0.37812	0.1017	N	0.08118	0	0.80722	D	1	B	0.27316	0.175	B	0.13407	0.009	T	0.38693	-0.9649	10	0.87932	D	0	.	14.8314	0.70151	0.0:0.0:0.0:1.0	.	1976	Q99698	LYST_HUMAN	C	1976	ENSP00000374444:Y1976C;ENSP00000374443:Y1976C	ENSP00000374443:Y1976C	Y	-	2	0	LYST	233996196	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.772000	0.85439	1.956000	0.56807	0.477000	0.44152	TAC		0.323	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235929573	T	C	235929573	3	2	427	1	0	0	0	0	1	0	0	0	9128	1638	57	4	5610	4	LYST	1	235929573	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	1562376	235929573	13321048	24	23402											
APOB	338	genome.wustl.edu	37	2	21263864	21263875	+	In_Frame_Del	DEL	TTGCCCTCAGGG	TTGCCCTCAGGG	-	rs371662800|rs150182638		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	TTGCCCTCAGGG	TTGCCCTCAGGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:21263864_21263875delTTGCCCTCAGGG	ENST00000233242.1	-	4	445_456	c.318_329delCCCTGAGGGCAA	c.(316-330)aaccctgagggcaaa>aaa	p.NPEG106del	APOB_ENST00000399256.4_In_Frame_Del_p.NPEG106del	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	106	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCAAGGCTTTGCCCTCAGGGTTGAAGCCAT	0.528																																																0			2																																								21117380	SO:0001651	inframe_deletion	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.318_329delCCCTGAGGGCAA	2.37:g.21263864_21263875delTTGCCCTCAGGG	ENSP00000233242:p.Asn106_Gly109del		21117369	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	ENST00000233242.1	37	CCDS1703.1																																																																																				0.528	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			-	21263875	TTGCCCTCAGGG	-	21263864	7	5	427	1	0	1	0	1	0	0	0	0	785	1841	64	0	13466	0	APOB	2	21263864	In_Frame_Del	DEL	TTGCCCTCAGGG	TCGA-61-1740-01A-01W-0639-09		21263864	221935509	25	23403											
PFN4	375189	genome.wustl.edu	37	2	24345297	24345297	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:24345297C>T	ENST00000313213.4	-	2	480	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	RP11-507M3.1_ENST00000584973.1_5'Flank|PFN4_ENST00000465360.1_Intron|FAM228B_ENST00000407625.1_5'Flank|FAM228B_ENST00000420135.2_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	37					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATTGAAACCTGGTGATGCT	0.378																																																0			2											127	128	128					2																	24345297		2203	4300	6503	24198801	SO:0001583	missense	375189			BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.109G>A	2.37:g.24345297C>T	ENSP00000322170:p.Gly37Ser		24198801	Q53TL9	Missense_Mutation	SNP	ENST00000313213.4	37	CCDS1709.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709695	0.68730	.	.	ENSG00000176732	ENST00000313213	D	0.86865	-2.18	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000020	D	0.91260	0.7245	M	0.66939	2.045	0.45607	D	0.99854	D	0.69078	0.997	D	0.63113	0.911	D	0.90661	0.4590	10	0.42905	T	0.14	0.0233	14.2897	0.66268	0.0:1.0:0.0:0.0	.	37	Q8NHR9	PROF4_HUMAN	S	37	ENSP00000322170:G37S	ENSP00000322170:G37S	G	-	1	0	PFN4	24198801	0.997000	0.39634	1.000000	0.80357	0.511000	0.34104	2.814000	0.48010	2.519000	0.84933	0.555000	0.69702	GGT		0.378	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346		T	24345297	C	T	24345297	3	4	427	1	0	0	0	0	1	0	0	0	11770	681	24	2	296	2	PFN4	2	24345297	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	3081433	24345297	218854076	26	23404											
ALK	238	genome.wustl.edu	37	2	29445209	29445209	+	Splice_Site	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:29445209C>T	ENST00000389048.3	-	22	4422		c.e22+1		ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase						activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGTGGCTTTACCTGATGATCA	0.547			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0			2											85	93	90					2																	29445209		2203	4300	6503	29298713	SO:0001630	splice_region_variant	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3515+1G>A	2.37:g.29445209C>T			29298713	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Splice_Site	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415475	0.83449	.	.	ENSG00000171094	ENST00000389048;ENST00000453137	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1739	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALK	29298713	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.810000	0.86072	2.532000	0.85374	0.555000	0.69702	.		0.547	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	Intron	T	29445209	C	T	29445209	5	4	427	1	0	0	0	0	0	0	1	0	525	521	18	2	1378	2	ALK	2	29445209	Splice_Site	SNP	C	TCGA-61-1740-01A-01W-0639-09	5099912	29445209	213754164	27	23405											
PROKR1	10887	genome.wustl.edu	37	2	68882441	68882441	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:68882441C>T	ENST00000303786.3	+	3	1335	c.915C>T	c.(913-915)atC>atT	p.I305I	PROKR1_ENST00000394342.2_Silent_p.I305I			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	305					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.I305I(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTTCACCATCGTGCGCGACT	0.582																																																1	Substitution - coding silent(1)	large_intestine(1)	2											142	107	119					2																	68882441		2203	4300	6503	68735945	SO:0001819	synonymous_variant	10887			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.915C>T	2.37:g.68882441C>T			68735945	A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	CCDS1889.1																																																																																				0.582	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			T	68882441	C	T	68882441	2	4	427	1	0	0	0	0	0	0	0	1	12555	874	31	1		1	PROKR1	2	68882441	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	39437232	68882441	174316932	28	23406											
ELMOD3	84173	genome.wustl.edu	37	2	85584341	85584341	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:85584341C>G	ENST00000409890.2	+	4	687	c.20C>G	c.(19-21)tCt>tGt	p.S7C	ELMOD3_ENST00000315658.7_Missense_Mutation_p.S7C|ELMOD3_ENST00000409344.3_Missense_Mutation_p.S7C|ELMOD3_ENST00000409013.3_Missense_Mutation_p.S7C|RETSAT_ENST00000263854.6_5'Flank|RETSAT_ENST00000295802.4_5'Flank|ELMOD3_ENST00000490508.1_Intron|ELMOD3_ENST00000393852.4_Missense_Mutation_p.S7C|ELMOD3_ENST00000428955.2_Missense_Mutation_p.S7C|RETSAT_ENST00000457495.2_5'Flank			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	7					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AAATCTTGCTCTTTCCATAGT	0.363																																																0			2											108	107	108					2																	85584341		2203	4300	6503	85437852	SO:0001583	missense	0			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.20C>G	2.37:g.85584341C>G	ENSP00000386304:p.Ser7Cys		85437852	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566309	0.27915	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658;ENST00000462891;ENST00000418268	T;T;T;T;T;T;T;T	0.35789	1.38;1.38;1.38;1.38;1.38;1.36;1.29;1.36	5.84	2.97	0.34412	.	0.360033	0.24831	N	0.035253	T	0.29223	0.0727	L	0.51422	1.61	0.26977	N	0.965444	B;B	0.14012	0.009;0.002	B;B	0.16722	0.016;0.002	T	0.26395	-1.0104	10	0.87932	D	0	-7.1419	5.6124	0.17412	0.1411:0.6406:0.1374:0.0808	.	7;7	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	C	7	ENSP00000386257:S7C;ENSP00000387139:S7C;ENSP00000386304:S7C;ENSP00000386248:S7C;ENSP00000377434:S7C;ENSP00000412692:S7C;ENSP00000318264:S7C;ENSP00000393443:S7C	ENSP00000318264:S7C	S	+	2	0	ELMOD3	85437852	0.244000	0.23889	1.000000	0.80357	0.046000	0.14306	0.439000	0.21575	1.503000	0.48686	-0.191000	0.12829	TCT		0.363	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		G	85584341	C	G	85584341	3	3	427	1	0	0	0	0	1	0	0	0	5070	913	32	3	22	3	ELMOD3	2	85584341	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	16701900	85584341	157615032	29	23407											
RMND5A	64795	genome.wustl.edu	37	2	86997199	86997199	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:86997199T>C	ENST00000283632.4	+	7	1403	c.908T>C	c.(907-909)aTt>aCt	p.I303T	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	303										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AAAGCCGTGATTGAACAGAGG	0.458																																																0			2											193	192	193					2																	86997199		2203	4300	6503	86850710	SO:0001583	missense	64795			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog A"					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.908T>C	2.37:g.86997199T>C	ENSP00000283632:p.Ile303Thr		86850710	D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984410	0.74474	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.28694	0.88	0.80722	D	1	P	0.36789	0.57	B	0.37451	0.25	T	0.54275	-0.8318	9	0.59425	D	0.04	-25.1926	15.9709	0.80019	0.0:0.0:0.0:1.0	.	303	Q9H871	RMD5A_HUMAN	T	303	.	ENSP00000283632:I303T	I	+	2	0	RMND5A	86850710	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	8.040000	0.89188	2.241000	0.73720	0.533000	0.62120	ATT		0.458	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		C	86997199	T	C	86997199	3	2	427	1	0	0	0	0	1	0	0	0	13400	1493	52	4	934	4	RMND5A	2	86997199	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	1412858	86997199	156202174	30	23408											
TEKT4	150483	genome.wustl.edu	37	2	95537691	95537691	+	Nonsense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:95537691A>T	ENST00000295201.4	+	1	504	c.367A>T	c.(367-369)Aag>Tag	p.K123*	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Nonsense_Mutation_p.K123*	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	123					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCTGGCCCAGAAGCAACGGCT	0.662																																																0			2											18	16	17					2																	95537691		2190	4289	6479	94901418	SO:0001587	stop_gained	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.367A>T	2.37:g.95537691A>T	ENSP00000295201:p.Lys123*		94901418		Nonsense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	14.22	2.469386	0.43839	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	.	.	.	1.84	1.84	0.25277	.	0.217594	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6847	7.3255	0.26553	1.0:0.0:0.0:0.0	.	.	.	.	X	123	.	ENSP00000295201:K123X	K	+	1	0	TEKT4	94901418	0.951000	0.32395	0.975000	0.42487	0.061000	0.15899	2.538000	0.45710	0.839000	0.34971	0.374000	0.22700	AAG		0.662	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		T	95537691	A	T	95537691	4	4	427	1	0	0	0	0	0	1	0	0	15755	247	9	5	369	5	TEKT4	2	95537691	Nonsense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	8540492	95537691	147661682	31	23409											
LOC285033	285033	genome.wustl.edu	37	2	96906294	96906294	+	RNA	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:96906294C>G	ENST00000446816.1	+	0	677																											CACCAGCGCCCTGCCTCAGGA	0.577																																																0			2											63	70	68					2																	96906294		2052	4223	6275	96270021			285033																															2.37:g.96906294C>G			96270021		Missense_Mutation	SNP	ENST00000446816.1	37																																																																																					0.577	AC012307.3-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000338796.1			G	96906294	C	G	96906294	1	3	427	0	1	0	0	0	0	0	0	0	8873	681	24	3		3	LOC285033	2	96906294	RNA	SNP	C	TCGA-61-1740-01A-01W-0639-09	1368603	96906294	146293079	32	23410											
TMEM127	55654	genome.wustl.edu	37	2	96919626	96919626	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:96919626C>G	ENST00000258439.3	-	4	893	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	TMEM127_ENST00000435268.1_Missense_Mutation_p.E129Q|TMEM127_ENST00000432959.1_Missense_Mutation_p.E213Q	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	213					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TCTTCCATCTCTGAGAGCAGC	0.617																																																0			2											75	71	73					2																	96919626		2203	4300	6503	96283353	SO:0001583	missense	55654			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.637G>C	2.37:g.96919626C>G	ENSP00000258439:p.Glu213Gln		96283353	D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784607	0.70222	.	.	ENSG00000135956	ENST00000258439;ENST00000432959;ENST00000435268	D;D;D	0.96396	-4.0;-4.0;-3.16	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	N	0.14661	0.345	0.58432	D	0.999999	D	0.61697	0.99	P	0.56127	0.792	D	0.95883	0.8900	10	0.62326	D	0.03	-18.6659	18.8075	0.92043	0.0:1.0:0.0:0.0	.	213	O75204	TM127_HUMAN	Q	213;213;129	ENSP00000258439:E213Q;ENSP00000416660:E213Q;ENSP00000411810:E129Q	ENSP00000258439:E213Q	E	-	1	0	TMEM127	96283353	1.000000	0.71417	0.964000	0.40570	0.773000	0.43773	7.329000	0.79170	2.745000	0.94114	0.462000	0.41574	GAG		0.617	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		G	96919626	C	G	96919626	3	3	427	1	0	0	0	0	1	0	0	0	16040	922	32	3	83	3	TMEM127	2	96919626	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	13332	96919626	146279747	33	23411											
FAHD2B	151313	genome.wustl.edu	37	2	97749949	97749949	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:97749949G>T	ENST00000414820.1	-	7	1021	c.751C>A	c.(751-753)Cag>Aag	p.Q251K	FAHD2B_ENST00000440566.2_Missense_Mutation_p.Q251K|FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Missense_Mutation_p.Q251K			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	251							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						AATACCATCTGGTTGGTGTTG	0.537																																																0			2											119	114	116					2																	97749949		2203	4300	6503	97113676	SO:0001583	missense	151313				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.751C>A	2.37:g.97749949G>T	ENSP00000410470:p.Gln251Lys		97113676	D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	37	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	g	10.12	1.263488	0.23136	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.94280	-3.39;-3.39;-3.39	1.26	1.26	0.21427	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	L	0.33485	1.01	0.38733	D	0.953716	P	0.38223	0.623	B	0.37989	0.262	T	0.80986	-0.1137	10	0.25751	T	0.34	.	8.0482	0.30562	0.0:0.0:1.0:0.0	.	251	Q6P2I3	FAH2B_HUMAN	K	251	ENSP00000410470:Q251K;ENSP00000272610:Q251K;ENSP00000444599:Q251K	ENSP00000272610:Q251K	Q	-	1	0	FAHD2B	97113676	1.000000	0.71417	0.995000	0.50966	0.329000	0.28539	6.117000	0.71577	0.663000	0.31027	0.184000	0.17185	CAG		0.537	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		T	97749949	G	T	97749949	3	4	427	1	0	0	0	0	1	0	0	0	5374	1357	47	3	205	3	FAHD2B	2	97749949	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	830323	97749949	145449424	34	23412											
AFF3	3899	genome.wustl.edu	37	2	100625390	100625390	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:100625390A>G	ENST00000409236.2	-	3	170	c.58T>C	c.(58-60)Tat>Cat	p.Y20H	AFF3_ENST00000356421.2_Missense_Mutation_p.Y45H|AFF3_ENST00000317233.4_Missense_Mutation_p.Y20H|AFF3_ENST00000409579.1_Missense_Mutation_p.Y45H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	20					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGGTTCATAGACACTGCAT	0.398																																																0			2											184	160	168					2																	100625390		2203	4300	6503	99991822	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.58T>C	2.37:g.100625390A>G	ENSP00000387207:p.Tyr20His		99991822	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528650	0.64860	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492;ENST00000440445;ENST00000415384	T;T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.97	5.97	0.96955	.	0.255793	0.28031	N	0.016875	T	0.78052	0.4223	M	0.67397	2.05	0.33516	D	0.591802	P;P;P;P	0.51791	0.948;0.782;0.817;0.782	P;P;B;B	0.57425	0.82;0.519;0.426;0.389	D	0.85338	0.1094	10	0.87932	D	0	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	174;174;20;45	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	H	20;45;45;20;20;174;45;20;20;20;20;20;97;174	ENSP00000317421:Y20H;ENSP00000348793:Y45H;ENSP00000386834:Y45H;ENSP00000387207:Y20H;ENSP00000406484:Y20H;ENSP00000396582:Y20H;ENSP00000399795:Y20H;ENSP00000411383:Y20H;ENSP00000395068:Y20H;ENSP00000393732:Y97H	ENSP00000317421:Y20H	Y	-	1	0	AFF3	99991822	1.000000	0.71417	0.997000	0.53966	0.788000	0.44548	5.226000	0.65299	2.288000	0.76882	0.533000	0.62120	TAT		0.398	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		G	100625390	A	G	100625390	3	3	427	1	0	0	0	0	1	0	0	0	358	420	15	4	3706	4	AFF3	2	100625390	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	2875441	100625390	142573983	35	23413											
ACVR1	90	genome.wustl.edu	37	2	158634675	158634675	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:158634675T>A	ENST00000263640.3	-	5	940	c.511A>T	c.(511-513)Atc>Ttc	p.I171F	ACVR1_ENST00000434821.1_Missense_Mutation_p.I171F|ACVR1_ENST00000410057.2_Missense_Mutation_p.I171F|ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000409283.2_Missense_Mutation_p.I171F	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	171					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTGGTGGTGATGAGCCCTTCG	0.498																																																0			2											150	129	136					2																	158634675		2203	4300	6503	158342921	SO:0001583	missense	90				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.511A>T	2.37:g.158634675T>A	ENSP00000263640:p.Ile171Phe		158342921		Missense_Mutation	SNP	ENST00000263640.3	37	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206462	0.79127	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	L	0.27053	0.805	0.80722	D	1	P	0.43826	0.818	B	0.43194	0.411	T	0.75709	-0.3223	10	0.09338	T	0.73	.	16.0893	0.81082	0.0:0.0:0.0:1.0	.	171	Q04771	ACVR1_HUMAN	F	171	ENSP00000263640:I171F;ENSP00000387273:I171F;ENSP00000405004:I171F;ENSP00000387127:I171F	ENSP00000263640:I171F	I	-	1	0	ACVR1	158342921	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.013000	0.88655	2.279000	0.76181	0.533000	0.62120	ATC		0.498	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		A	158634675	T	A	158634675	3	1	427	1	0	0	0	0	1	0	0	0	220	1464	51	5	1046	5	ACVR1	2	158634675	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	58009285	158634675	84564698	36	23414											
TTN	7273	genome.wustl.edu	37	2	179395824	179395836	+	Frame_Shift_Del	DEL	GCAGAAGTACTTA	GCAGAAGTACTTA	-	rs532236466|rs573843615		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	GCAGAAGTACTTA	GCAGAAGTACTTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:179395824_179395836delGCAGAAGTACTTA	ENST00000591111.1	-	308	100807_100819	c.100583_100595delTAAGTACTTCTGC	c.(100582-100596)ctaagtacttctgccfs	p.LSTSA33528fs	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.LSTSA26229fs|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.LSTSA26296fs|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.LSTSA32601fs|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.LSTSA26104fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.LSTSA35169fs|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33528	Ig-like 147.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTGGCGGGCAGAAGTACTTAGCACTTGTCC	0.521																																																0			2																																								179104082	SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100583_100595delTAAGTACTTCTGC	2.37:g.179395824_179395836delGCAGAAGTACTTA	ENSP00000465570:p.Leu33528fs		179104070	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																					0.521	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179395836	GCAGAAGTACTTA	-	179395824	7	5	427	1	0	1	0	1	0	0	0	0	16735	1203	42	0	2481	0	TTN	2	179395824	Frame_Shift_Del	DEL	GCAGAAGTACTTA	TCGA-61-1740-01A-01W-0639-09	20761149	179395824	63803549	37	23415											
TTN	7273	genome.wustl.edu	37	2	179594390	179594390	+	Splice_Site	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:179594390C>A	ENST00000591111.1	-	61	17863		c.e61+1		TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Splice_Site			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCACGAACCTTTCACTTT	0.458																																																0			2											126	122	123					2																	179594390		1932	4150	6082	179302635	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17638+1G>T	2.37:g.179594390C>A			179302635	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.41	2.826573	0.50739	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179302635	1.000000	0.71417	0.999000	0.59377	0.282000	0.26991	7.456000	0.80751	2.941000	0.99782	0.655000	0.94253	.		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	A	179594390	C	A	179594390	5	1	427	1	0	0	0	0	0	0	1	0	16735	521	18	3	86139	3	TTN	2	179594390	Splice_Site	SNP	C	TCGA-61-1740-01A-01W-0639-09	198566	179594390	63604983	38	23416											
ZSWIM2	151112	genome.wustl.edu	37	2	187697873	187697873	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:187697873C>G	ENST00000295131.2	-	7	954	c.915G>C	c.(913-915)aaG>aaC	p.K305N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	305					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AATGTGACATCTTTTCTTCAA	0.284																																																0			2											110	105	107					2																	187697873		2198	4294	6492	187406118	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.915G>C	2.37:g.187697873C>G	ENSP00000295131:p.Lys305Asn		187406118	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	9.166	1.019810	0.19355	.	.	ENSG00000163012	ENST00000295131	T	0.23754	1.89	5.44	1.26	0.21427	.	0.491076	0.18995	N	0.125518	T	0.16471	0.0396	L	0.34521	1.04	0.09310	N	0.999993	B	0.06786	0.001	B	0.06405	0.002	T	0.17899	-1.0354	10	0.35671	T	0.21	-0.254	7.1743	0.25736	0.429:0.4913:0.0:0.0797	.	305	Q8NEG5	ZSWM2_HUMAN	N	305	ENSP00000295131:K305N	ENSP00000295131:K305N	K	-	3	2	ZSWIM2	187406118	0.023000	0.18921	0.042000	0.18584	0.976000	0.68499	-0.021000	0.12504	0.231000	0.21079	0.585000	0.79938	AAG		0.284	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		G	187697873	C	G	187697873	3	3	427	1	0	0	0	0	1	0	0	0	18241	912	32	3	998	3	ZSWIM2	2	187697873	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	8103483	187697873	55501500	39	23417											
MYO1B	4430	genome.wustl.edu	37	2	192228571	192228571	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:192228571C>A	ENST00000392318.3	+	10	1130	c.883C>A	c.(883-885)Cta>Ata	p.L295I	MYO1B_ENST00000392316.1_Missense_Mutation_p.L295I|MYO1B_ENST00000339514.4_Missense_Mutation_p.L295I|MYO1B_ENST00000304164.4_Missense_Mutation_p.L295I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	295	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGTGAATGGTCTAGATGAAAG	0.423																																																0			2											120	111	114					2																	192228571		2203	4300	6503	191936816	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.883C>A	2.37:g.192228571C>A	ENSP00000376132:p.Leu295Ile		191936816	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	4.433	0.080037	0.08533	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.12;-2.22	5.92	0.957	0.19613	Myosin head, motor domain (2);	0.379543	0.28062	N	0.016749	T	0.69753	0.3146	N	0.05467	-0.045	0.31417	N	0.674774	B;B	0.09022	0.002;0.001	B;B	0.16722	0.016;0.008	T	0.59198	-0.7499	10	0.12766	T	0.61	.	9.6452	0.39863	0.0:0.3559:0.0:0.6441	.	295;295	O43795;O43795-2	MYO1B_HUMAN;.	I	295	ENSP00000341903:L295I;ENSP00000376132:L295I;ENSP00000306382:L295I;ENSP00000388140:L295I;ENSP00000376130:L295I	ENSP00000306382:L295I	L	+	1	2	MYO1B	191936816	0.226000	0.23696	0.257000	0.24404	0.758000	0.43043	0.604000	0.24164	0.144000	0.18951	-0.781000	0.03364	CTA		0.423	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		A	192228571	C	A	192228571	3	1	427	1	0	0	0	0	1	0	0	0	10069	912	32	3	917	3	MYO1B	2	192228571	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	4530698	192228571	50970802	40	23418											
DNAH7	56171	genome.wustl.edu	37	2	196698950	196698950	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:196698950C>T	ENST00000312428.6	-	48	9180	c.9080G>A	c.(9079-9081)tGc>tAc	p.C3027Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3027	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAACTGGATGCAATTTTCCAG	0.373																																																0			2											108	101	104					2																	196698950		1881	4098	5979	196407195	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9080G>A	2.37:g.196698950C>T	ENSP00000311273:p.Cys3027Tyr		196407195	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361758	0.82353	.	.	ENSG00000118997	ENST00000312428	T	0.21543	2.0	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.91406	3.205	0.80722	D	1	D	0.65815	0.995	D	0.71656	0.974	T	0.66496	-0.5909	10	0.87932	D	0	.	19.0618	0.93096	0.0:1.0:0.0:0.0	.	3027	Q8WXX0	DYH7_HUMAN	Y	3027	ENSP00000311273:C3027Y	ENSP00000311273:C3027Y	C	-	2	0	DNAH7	196407195	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	5.924000	0.70054	2.794000	0.96219	0.650000	0.86243	TGC		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196698950	C	T	196698950	3	4	427	1	0	0	0	0	1	0	0	0	4606	710	25	2	3066	2	DNAH7	2	196698950	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	4470379	196698950	46500423	41	23419											
CXCR2	3579	genome.wustl.edu	37	2	219000288	219000288	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:219000288C>T	ENST00000318507.2	+	3	1191	c.764C>T	c.(763-765)gCt>gTt	p.A255V		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	255					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTCATCTTTGCTGTCGTCCTC	0.597																																																0			2											161	155	157					2																	219000288		2203	4300	6503	218708533	SO:0001583	missense	3579			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.764C>T	2.37:g.219000288C>T	ENSP00000319635:p.Ala255Val		218708533	Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748860	0.69533	.	.	ENSG00000180871	ENST00000318507	T	0.33654	1.4	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.188443	0.45867	N	0.000322	T	0.37625	0.1010	L	0.48174	1.505	0.28468	N	0.915575	P	0.44195	0.828	P	0.48524	0.58	T	0.32640	-0.9899	9	.	.	.	.	8.3649	0.32380	0.0:0.8314:0.0:0.1686	.	255	P25025	CXCR2_HUMAN	V	255	ENSP00000319635:A255V	.	A	+	2	0	CXCR2	218708533	0.993000	0.37304	0.957000	0.39632	0.860000	0.49131	3.099000	0.50267	2.529000	0.85273	0.456000	0.33151	GCT		0.597	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		T	219000288	C	T	219000288	3	4	427	1	0	0	0	0	1	0	0	0	4091	797	28	2	766	2	CXCR2	2	219000288	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	22301338	219000288	24199085	42	23420											
SLC11A1	6556	genome.wustl.edu	37	2	219247736	219247736	+	Missense_Mutation	SNP	C	C	T	rs145961681|rs373316233	byFrequency	TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:219247736C>T	ENST00000233202.6	+	2	401	c.61C>T	c.(61-63)Ccg>Tcg	p.P21S	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	21	Pro/Ser-rich.				activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCTccagcccgaccagccc	0.607																																																0			2											75	61	66					2																	219247736		2203	4300	6503	218955980	SO:0001583	missense	6556			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.61C>T	2.37:g.219247736C>T	ENSP00000233202:p.Pro21Ser		218955980	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725984	0.30593	.	.	ENSG00000018280	ENST00000233202	T	0.15834	2.39	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.14485	0.0350	L	0.35487	1.065	0.80722	D	1	P;P;P	0.48350	0.909;0.909;0.909	P;P;P	0.50440	0.641;0.641;0.641	T	0.13791	-1.0496	8	0.06494	T	0.89	-2.0335	.	.	.	.	21;21;21	Q9HBK0;B4DQ73;P49279	.;.;NRAM1_HUMAN	S	21	ENSP00000233202:P21S	ENSP00000233202:P21S	P	+	1	0	SLC11A1	218955980	0.547000	0.26465	0.992000	0.48379	0.363000	0.29612	0.145000	0.16157	0.132000	0.18615	0.134000	0.15878	CCG		0.607	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		T	219247736	C	T	219247736	3	4	427	1	0	0	0	0	1	0	0	0	14383	623	22	2	67	2	SLC11A1	2	219247736	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	247448	219247736	23951637	43	23421											
NGLY1	55768	genome.wustl.edu	37	3	25777640	25777640	+	Splice_Site	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:25777640T>A	ENST00000280700.5	-	7	1164	c.1004A>T	c.(1003-1005)gAc>gTc	p.D335V	NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000417874.2_Splice_Site_p.D293V|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Splice_Site_p.D335V|NGLY1_ENST00000467224.1_5'Flank	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	335					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CCAGACATGGTCTACTCAAGT	0.393																																																0			3											44	41	42					3																	25777640		2203	4300	6503	25752644	SO:0001630	splice_region_variant	55768			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1004-1A>T	3.37:g.25777640T>A			25752644	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637812	0.87760	.	.	ENSG00000151092	ENST00000280700;ENST00000396649;ENST00000417874	T;T;T	0.22134	1.97;1.97;1.97	5.66	5.66	0.87406	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	H	0.95679	3.705	0.80722	D	1	P;D;P	0.63880	0.902;0.993;0.948	D;D;D	0.73708	0.97;0.981;0.945	T	0.73186	-0.4062	10	0.87932	D	0	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	293;335;335	B4DJE9;Q96IV0-3;Q96IV0	.;.;NGLY1_HUMAN	V	335;335;293	ENSP00000280700:D335V;ENSP00000379886:D335V;ENSP00000389888:D293V	ENSP00000280700:D335V	D	-	2	0	NGLY1	25752644	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.986000	0.88173	2.285000	0.76669	0.533000	0.62120	GAC		0.393	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2		Missense_Mutation	A	25777640	T	A	25777640	5	1	427	1	0	0	0	0	0	0	1	0	10398	1681	58	5	984	5	NGLY1	3	25777640	Splice_Site	SNP	T	TCGA-61-1740-01A-01W-0639-09		25777640	172244790	44	23422											
TRAK1	22906	genome.wustl.edu	37	3	42264996	42264996	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:42264996C>A	ENST00000327628.5	+	16	3029	c.2629C>A	c.(2629-2631)Ccc>Acc	p.P877T	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.P819T|RNU4-78P_ENST00000410940.1_RNA	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	877					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTCTGTGGGCCCCCGGGGCC	0.657																																					GBM(44;195 884 22595 31865 41850)											0			3											23	27	26					3																	42264996		1932	4130	6062	42240000	SO:0001583	missense	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2629C>A	3.37:g.42264996C>A	ENSP00000328998:p.Pro877Thr		42240000	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	9.554	1.116630	0.20795	.	.	ENSG00000182606	ENST00000327628;ENST00000396175	T;T	0.07800	3.16;3.16	4.47	3.57	0.40892	.	0.448545	0.20480	N	0.091519	T	0.05823	0.0152	N	0.14661	0.345	0.80722	D	1	B;B	0.27498	0.18;0.0	B;B	0.19946	0.027;0.0	T	0.34950	-0.9808	10	0.66056	D	0.02	.	12.9735	0.58525	0.0:0.6669:0.3331:0.0	.	819;877	C9JC32;Q9UPV9	.;TRAK1_HUMAN	T	877;819	ENSP00000328998:P877T;ENSP00000379478:P819T	ENSP00000328998:P877T	P	+	1	0	TRAK1	42240000	0.057000	0.20700	0.716000	0.30569	0.981000	0.71138	0.168000	0.16622	1.071000	0.40834	0.591000	0.81541	CCC		0.657	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		A	42264996	C	A	42264996	3	1	427	1	0	0	0	0	1	0	0	0	16449	739	26	3	3079	3	TRAK1	3	42264996	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	16487356	42264996	155757434	45	23423											
CCR3	1232	genome.wustl.edu	37	3	46307529	46307529	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:46307529T>G	ENST00000357422.2	+	4	1423	c.880T>G	c.(880-882)Tgc>Ggc	p.C294G	CCR3_ENST00000395940.2_Missense_Mutation_p.C294G|CCR3_ENST00000395942.2_Missense_Mutation_p.C294G|CCR3_ENST00000541018.1_Missense_Mutation_p.C294G|CCR3_ENST00000545097.1_Missense_Mutation_p.C315G			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	294					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTACTCCCACTGCTGCATGAA	0.527																																																0			3											120	100	107					3																	46307529		2203	4300	6503	46282533	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.880T>G	3.37:g.46307529T>G	ENSP00000350003:p.Cys294Gly		46282533	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942091	0.53079	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	D	0.90669	0.7073	H	0.96489	3.83	0.48975	D	0.999737	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93538	0.6875	10	0.87932	D	0	.	16.0235	0.80516	0.0:0.0:0.0:1.0	.	315;294	F5GWL6;P51677	.;CCR3_HUMAN	G	294;315;294;294;294	ENSP00000350003:C294G;ENSP00000441600:C315G;ENSP00000440097:C294G;ENSP00000379271:C294G;ENSP00000379273:C294G	ENSP00000350003:C294G	C	+	1	0	CCR3	46282533	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	2.606000	0.46291	2.177000	0.69029	0.533000	0.62120	TGC		0.527	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			G	46307529	T	G	46307529	3	3	427	1	0	0	0	0	1	0	0	0	2942	1580	55	5	949	5	CCR3	3	46307529	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	4042533	46307529	151714901	46	23424											
PBRM1	55193	genome.wustl.edu	37	3	52623162	52623162	+	Nonsense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:52623162G>C	ENST00000296302.7	-	18	2890	c.2889C>G	c.(2887-2889)taC>taG	p.Y963*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y963*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y963*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y978*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y963*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y963*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Y931*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y978*			Q86U86	PB1_HUMAN	polybromo 1	963	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.			Y -> H (in Ref. 5; BAB71210). {ECO:0000305}.	chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCACATAGACGTAATCTCCAA	0.453			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0			3											199	189	192					3																	52623162		2203	4300	6503	52598202	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2889C>G	3.37:g.52623162G>C	ENSP00000296302:p.Tyr963*		52598202	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	37	6.539554	0.97646	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.27	-8.14	0.01069	.	0.059846	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2094	0.65755	0.43:0.0:0.57:0.0	.	.	.	.	X	931;963;963;963;963;963;978;978;962;921	.	ENSP00000296302:Y963X	Y	-	3	2	PBRM1	52598202	0.970000	0.33590	0.946000	0.38457	0.963000	0.63663	0.280000	0.18790	-1.318000	0.02289	-1.076000	0.02234	TAC		0.453	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52623162	G	C	52623162	4	2	427	1	0	0	0	0	0	1	0	0	11491	1140	40	3	2063	3	PBRM1	3	52623162	Nonsense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	6315633	52623162	145399268	47	23425											
ROBO2	6092	genome.wustl.edu	37	3	77599980	77599980	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:77599980C>A	ENST00000461745.1	+	8	1971	c.1071C>A	c.(1069-1071)ttC>ttA	p.F357L	ROBO2_ENST00000332191.8_Missense_Mutation_p.F357L|ROBO2_ENST00000487694.3_Missense_Mutation_p.F373L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	357	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTACTTTTCCCAAACCAAC	0.413																																																0			3											87	85	86					3																	77599980		1911	4114	6025	77682670	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1071C>A	3.37:g.77599980C>A	ENSP00000417164:p.Phe357Leu		77682670	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621497	0.66787	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.74002	-0.8;-0.8;-0.8	5.35	0.449	0.16619	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000191	T	0.79118	0.4392	L	0.49778	1.585	0.48395	D	0.999649	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80756	-0.1240	9	0.51188	T	0.08	.	9.7049	0.40209	0.0:0.5042:0.0:0.4958	.	373;357;357	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	373;373;377;357;357;78	ENSP00000417335:F373L;ENSP00000417164:F357L;ENSP00000327536:F357L	ENSP00000327536:F357L	F	+	3	2	ROBO2	77682670	0.999000	0.42202	0.999000	0.59377	0.981000	0.71138	0.555000	0.23422	0.075000	0.16796	-0.339000	0.08088	TTC		0.413	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		A	77599980	C	A	77599980	3	1	427	1	0	0	0	0	1	0	0	0	13517	854	30	3	1103	3	ROBO2	3	77599980	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	24976818	77599980	120422450	48	23426											
ZPLD1	131368	genome.wustl.edu	37	3	102196343	102196343	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:102196343G>A	ENST00000491959.1	+	18	2011	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	ZPLD1_ENST00000306176.1_Missense_Mutation_p.G393R|ZPLD1_ENST00000466937.1_Missense_Mutation_p.G377R			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	377						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACTGATATCAGGAATGGTCAT	0.478																																																0			3											220	216	217					3																	102196343		2203	4300	6503	103679033	SO:0001583	missense	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1129G>A	3.37:g.102196343G>A	ENSP00000420265:p.Gly377Arg		103679033	Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.426401	0.96131	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81247	-1.45;-1.47;-1.45	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.982	D;P	0.70016	0.967;0.834	D	0.85748	0.1341	10	0.62326	D	0.03	-30.4146	20.4062	0.99009	0.0:0.0:1.0:0.0	.	393;377	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	R	377;393;377	ENSP00000420265:G377R;ENSP00000307801:G393R;ENSP00000418253:G377R	ENSP00000307801:G393R	G	+	1	0	ZPLD1	103679033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.028000	0.93712	2.831000	0.97527	0.655000	0.94253	GGA		0.478	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		A	102196343	G	A	102196343	3	1	427	1	0	0	0	0	1	0	0	0	18221	1001	35	2	1219	2	ZPLD1	3	102196343	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	24596363	102196343	95826087	49	23427											
SLC9A10	285335	genome.wustl.edu	37	3	111985132	111985132	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:111985132T>G	ENST00000305815.5	-	8	1083	c.831A>C	c.(829-831)ttA>ttC	p.L277F	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L277F	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	277					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTGTAGAATTTAAAAGAAGTC	0.279																																																0			3											65	73	70					3																	111985132		2202	4296	6498	113467822	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.831A>C	3.37:g.111985132T>G	ENSP00000306627:p.Leu277Phe		113467822	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312750	0.40895	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.16073	2.37;2.37	5.04	3.86	0.44501	Cation/H+ exchanger (1);	0.000000	0.43416	D	0.000567	T	0.32823	0.0842	L	0.59436	1.845	0.31956	N	0.609014	D;D	0.89917	0.999;1.0	D;D	0.91635	0.988;0.999	T	0.32188	-0.9916	10	0.37606	T	0.19	-22.2864	8.266	0.31815	0.1768:0.0:0.0:0.8232	.	277;277	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	F	277	ENSP00000306627:L277F;ENSP00000420688:L277F	ENSP00000306627:L277F	L	-	3	2	SLC9A10	113467822	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	2.427000	0.44740	0.841000	0.35020	0.491000	0.48974	TTA		0.279	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		G	111985132	T	G	111985132	3	3	427	1	0	0	0	0	1	0	0	0	14713	1751	61	5	2790	5	SLC9A10	3	111985132	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	9788789	111985132	86037298	50	23428											
PLSCR1	5359	genome.wustl.edu	37	3	146251284	146251284	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:146251284G>C	ENST00000342435.4	-	3	477	c.67C>G	c.(67-69)Cct>Gct	p.P23A	PLSCR1_ENST00000448787.2_Silent_p.L14L|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.P16A	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	23	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGATACTGAGGAGGATACCCA	0.403																																																0			3											112	113	112					3																	146251284		2203	4300	6503	147733974	SO:0001583	missense	5359			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.67C>G	3.37:g.146251284G>C	ENSP00000345494:p.Pro23Ala		147733974	B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	CCDS3135.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902175	0.33628	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349	T;T;T;T	0.24908	2.17;2.17;2.17;1.83	3.58	2.7	0.31948	.	.	.	.	.	T	0.27241	0.0668	M	0.67397	2.05	0.20307	N	0.999917	P;P	0.44139	0.827;0.58	B;B	0.41510	0.359;0.096	T	0.15954	-1.0419	9	0.59425	D	0.04	.	6.6428	0.22919	0.1275:0.0:0.8725:0.0	.	23;23	Q8WVK1;O15162	.;PLS1_HUMAN	A	23;16;23;23	ENSP00000345494:P23A;ENSP00000417792:P16A;ENSP00000418103:P23A;ENSP00000420523:P23A	ENSP00000345494:P23A	P	-	1	0	PLSCR1	147733974	0.507000	0.26146	0.009000	0.14445	0.033000	0.12548	2.143000	0.42187	1.090000	0.41315	0.650000	0.86243	CCT		0.403	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		C	146251284	G	C	146251284	3	2	427	1	0	0	0	0	1	0	0	0	12109	1174	41	3	917	3	PLSCR1	3	146251284	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	34266152	146251284	51771146	51	23429											
GMPS	8833	genome.wustl.edu	37	3	155623950	155623950	+	Splice_Site	SNP	G	G	T	rs371139266		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:155623950G>T	ENST00000496455.2	+	5	759	c.424G>T	c.(424-426)Ggc>Tgc	p.G142C	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Splice_Site_p.G43C	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	142	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	TATGTTTAGGGGCCTTCAGAA	0.353			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0			3											136	131	133					3																	155623950		1821	4071	5892	157106644	SO:0001630	splice_region_variant	8833			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.423-1G>T	3.37:g.155623950G>T			157106644	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957159	0.73902	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	D;D	0.91843	-2.92;-2.92	5.89	3.05	0.35203	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.053515	0.85682	D	0.000000	D	0.96632	0.8901	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.95802	0.8834	10	0.87932	D	0	-4.799	8.8259	0.35054	0.1299:0.0:0.7472:0.1229	.	43;142	F8W720;P49915	.;GUAA_HUMAN	C	142;43;91;142	ENSP00000419851:G142C;ENSP00000295920:G43C	ENSP00000295920:G43C	G	+	1	0	GMPS	157106644	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.277000	0.72608	0.828000	0.34709	0.557000	0.71058	GGC		0.353	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		Missense_Mutation	T	155623950	G	T	155623950	5	4	427	1	0	0	0	0	0	0	1	0	6498	1246	43	3	442	3	GMPS	3	155623950	Splice_Site	SNP	G	TCGA-61-1740-01A-01W-0639-09	9372666	155623950	42398480	52	23430											
VEPH1	79674	genome.wustl.edu	37	3	156979052	156979052	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:156979052G>A	ENST00000362010.2	-	14	2680	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Silent_p.F746F|VEPH1_ENST00000543418.1_Silent_p.F746F|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.F791F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	791	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TATTGTCTGTGAAGATTTCGA	0.507																																																0			3											101	97	98					3																	156979052		2203	4300	6503	158461746	SO:0001819	synonymous_variant	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2373C>T	3.37:g.156979052G>A			158461746	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	CCDS3179.1																																																																																				0.507	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		A	156979052	G	A	156979052	2	1	427	1	0	0	0	0	0	0	0	1	17154	1281	45	2		2	VEPH1	3	156979052	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	1355102	156979052	41043378	53	23431											
IFT80	57560	genome.wustl.edu	37	3	159997077	159997077	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:159997077C>T	ENST00000326448.7	-	16	2172	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L	IFT80_ENST00000496589.1_Silent_p.L443L|RP11-432B6.3_ENST00000483754.1_Silent_p.L751L|IFT80_ENST00000483465.1_Silent_p.L443L	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	580					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATGTGAACCAGGGAGCCAT	0.363																																																0			3											94	95	95					3																	159997077		2203	4300	6503	161479771	SO:0001819	synonymous_variant	57560			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1740G>A	3.37:g.159997077C>T			161479771	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	CCDS3188.1																																																																																				0.363	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		T	159997077	C	T	159997077	2	4	427	1	0	0	0	0	0	0	0	1	7564	581	21	2		2	IFT80	3	159997077	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	3018025	159997077	38025353	54	23432											
PLD1	5337	genome.wustl.edu	37	3	171394522	171394522	+	Missense_Mutation	SNP	G	G	C	rs201247680		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:171394522G>C	ENST00000351298.4	-	18	2224	c.2098C>G	c.(2098-2100)Cgc>Ggc	p.R700G	PLD1_ENST00000340989.4_Missense_Mutation_p.R700G|PLD1_ENST00000342215.6_Missense_Mutation_p.S590R|PLD1_ENST00000356327.5_Missense_Mutation_p.R662G	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	700	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AAGTTCCAGCGCTGGATGAAG	0.522																																					NSCLC(149;2174 3517 34058)											0			3											98	92	94					3																	171394522		2203	4300	6503	172877216	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2098C>G	3.37:g.171394522G>C	ENSP00000342793:p.Arg700Gly		172877216		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.943033|4.943033	0.92526|0.92526	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989|ENST00000342215	T;T;T|T	0.24538|0.34472	1.85;1.85;1.85|1.36	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73674|0.73674	0.3617|0.3617	H|H	0.95151|0.95151	3.63|3.63	0.45554|0.45554	D|D	0.9985|0.9985	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79784|.	0.993;0.988;0.988|.	T|T	0.81127|0.81127	-0.1074|-0.1074	10|7	0.62326|0.72032	D|D	0.03|0.01	-17.4801|-17.4801	20.089|20.089	0.97809|0.97809	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	662;685;700|.	Q13393-2;Q59EA4;Q13393|.	.;.;PLD1_HUMAN|.	G|R	662;700;700|590	ENSP00000348681:R662G;ENSP00000342793:R700G;ENSP00000340326:R700G|ENSP00000339936:S590R	ENSP00000340326:R700G|ENSP00000339936:S590R	R|S	-|-	1|3	0|2	PLD1|PLD1	172877216|172877216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.903000|7.903000	0.87398|0.87398	2.752000|2.752000	0.94435|0.94435	0.557000|0.557000	0.71058|0.71058	CGC|AGC		0.522	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		C	171394522	G	C	171394522	3	2	427	1	0	0	0	0	1	0	0	0	12045	1087	38	3	1166	3	PLD1	3	171394522	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	11397445	171394522	26627908	55	23433											
EIF2B5	8893	genome.wustl.edu	37	3	183860027	183860027	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:183860027G>C	ENST00000273783.3	+	9	1427	c.1305G>C	c.(1303-1305)gtG>gtC	p.V435V	EIF2B5_ENST00000444495.1_Silent_p.V435V	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	435					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCTTAGGTGGTCGTGGGCC	0.463																																																0			3											80	70	73					3																	183860027		2203	4300	6503	185342721	SO:0001819	synonymous_variant	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1305G>C	3.37:g.183860027G>C			185342721	Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	CCDS3252.1																																																																																				0.463	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			C	183860027	G	C	183860027	2	2	427	1	0	0	0	0	0	0	0	1	5004	1335	47	3		3	EIF2B5	3	183860027	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	12465505	183860027	14162403	56	23434											
BOD1L	259282	genome.wustl.edu	37	4	13617123	13617123	+	Silent	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:13617123T>C	ENST00000040738.5	-	3	507	c.372A>G	c.(370-372)tcA>tcG	p.S124S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	124						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCAACATTCCTGATCTGAAAC	0.343																																																0			4											80	80	80					4																	13617123		2203	4300	6503	13226221	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.372A>G	4.37:g.13617123T>C			13226221	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.343	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13617123	T	C	13617123	2	2	427	1	0	0	0	0	0	0	0	1	1483	1567	55	4		4	BOD1L	4	13617123	Silent	SNP	T	TCGA-61-1740-01A-01W-0639-09		13617123	177537153	57	23435											
LNX1	84708	genome.wustl.edu	37	4	54344851	54344851	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:54344851C>G	ENST00000263925.7	-	8	1858	c.1544G>C	c.(1543-1545)gGt>gCt	p.G515A	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Missense_Mutation_p.G419A	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	515	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGAGATTCACCGGGGTCTTT	0.478																																																0			4											129	124	126					4																	54344851		2203	4300	6503	54039608	SO:0001583	missense	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1544G>C	4.37:g.54344851C>G	ENSP00000263925:p.Gly515Ala		54039608	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.195901	0.00299	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.28454	1.61;1.61	4.98	-1.22	0.09494	PDZ/DHR/GLGF (3);	0.660669	0.16907	N	0.194659	T	0.14570	0.0352	L	0.33189	0.99	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.17979	0.02;0.006	T	0.26430	-1.0103	10	0.08837	T	0.75	.	2.1373	0.03765	0.1022:0.2961:0.2032:0.3986	.	515;419	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	A	419;353;515	ENSP00000302879:G419A;ENSP00000263925:G515A	ENSP00000263925:G515A	G	-	2	0	LNX1	54039608	0.795000	0.28851	0.442000	0.26870	0.010000	0.07245	0.871000	0.28023	-0.103000	0.12175	-0.793000	0.03317	GGT		0.478	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			G	54344851	C	G	54344851	3	3	427	1	0	0	0	0	1	0	0	0	8865	507	18	3	658	3	LNX1	4	54344851	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	40727728	54344851	136809425	58	23436											
POLR2B	5431	genome.wustl.edu	37	4	57873038	57873038	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:57873038G>A	ENST00000381227.1	+	11	1687	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	POLR2B_ENST00000314595.5_Missense_Mutation_p.R425Q|POLR2B_ENST00000431623.2_Missense_Mutation_p.R350Q|POLR2B_ENST00000441246.2_Missense_Mutation_p.R418Q			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	425					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTATTGATCGAGGAAAGGAT	0.343																																																0			4											79	86	84					4																	57873038		2203	4300	6503	57567795	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1274G>A	4.37:g.57873038G>A	ENSP00000370625:p.Arg425Gln		57567795	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098847	0.76870	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.2	5.2	0.72013	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	L	0.61218	1.895	0.80722	D	1	P;P	0.39696	0.683;0.683	B;B	0.39840	0.311;0.311	T	0.80271	-0.1452	10	0.52906	T	0.07	.	19.098	0.93260	0.0:0.0:1.0:0.0	.	350;425	C9J4M6;P30876	.;RPB2_HUMAN	Q	425;350;418;425	ENSP00000370625:R425Q;ENSP00000391096:R350Q;ENSP00000391452:R418Q;ENSP00000312735:R425Q	ENSP00000312735:R425Q	R	+	2	0	POLR2B	57567795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.661000	0.98601	2.600000	0.87896	0.655000	0.94253	CGA		0.343	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		A	57873038	G	A	57873038	3	1	427	1	0	0	0	0	1	0	0	0	12215	1058	37	1	1312	1	POLR2B	4	57873038	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	3528187	57873038	133281238	59	23437											
TSPAN5	10098	genome.wustl.edu	37	4	99399947	99399947	+	Silent	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:99399947C>G	ENST00000305798.3	-	5	867	c.465G>C	c.(463-465)ggG>ggC	p.G155G	TSPAN5_ENST00000505184.1_Silent_p.G84G|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	155					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CTCCAAAAGCCCCACAGCACT	0.488																																																0			4											76	73	74					4																	99399947		2203	4300	6503	99618970	SO:0001819	synonymous_variant	10098				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"Tetraspanins"	17753	protein-coding gene	gene with protein product		613136	"transmembrane 4 superfamily member 9"	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.465G>C	4.37:g.99399947C>G			99618970	B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Silent	SNP	ENST00000305798.3	37	CCDS3646.1																																																																																				0.488	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		G	99399947	C	G	99399947	2	3	427	1	0	0	0	0	0	0	0	1	16650	610	22	3		3	TSPAN5	4	99399947	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	41526909	99399947	91754329	60	23438											
STOX2	56977	genome.wustl.edu	37	4	184932025	184932025	+	Silent	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:184932025A>C	ENST00000308497.4	+	3	3469	c.2034A>C	c.(2032-2034)ggA>ggC	p.G678G	STOX2_ENST00000438269.1_Silent_p.G678G	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	678					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCGCCAACGGACGCCTCGTCC	0.597																																																0			4											20	24	23					4																	184932025		1975	4131	6106	185169019	SO:0001819	synonymous_variant	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2034A>C	4.37:g.184932025A>C			185169019	A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	CCDS47167.1																																																																																				0.597	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		C	184932025	A	C	184932025	2	2	427	1	0	0	0	0	0	0	0	1	15322	262	10	5		5	STOX2	4	184932025	Silent	SNP	A	TCGA-61-1740-01A-01W-0639-09	85532078	184932025	6222251	61	23439											
ADCY2	108	genome.wustl.edu	37	5	7695887	7695887	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:7695887G>T	ENST00000338316.4	+	6	981	c.892G>T	c.(892-894)Ggc>Tgc	p.G298C	ADCY2_ENST00000537121.1_Missense_Mutation_p.G118C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	298					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGACATCGTTGGCTTTACCCG	0.408																																																0			5											97	88	91					5																	7695887		2203	4300	6503	7748887	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.892G>T	5.37:g.7695887G>T	ENSP00000342952:p.Gly298Cys		7748887	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069270	0.76301	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D;D	0.88741	-2.42;-2.42;-2.42	5.51	4.63	0.57726	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	H	0.97829	4.085	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98340	1.0538	10	0.87932	D	0	.	15.9614	0.79933	0.0:0.0:0.8639:0.1361	.	118;298	B7Z2C1;Q08462	.;ADCY2_HUMAN	C	298;149;87;118	ENSP00000342952:G298C;ENSP00000425069:G87C;ENSP00000444803:G118C	ENSP00000342952:G298C	G	+	1	0	ADCY2	7748887	1.000000	0.71417	0.261000	0.24466	0.668000	0.39293	9.382000	0.97209	1.427000	0.47276	0.655000	0.94253	GGC		0.408	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7695887	G	T	7695887	3	4	427	1	0	0	0	0	1	0	0	0	294	1348	47	3	914	3	ADCY2	5	7695887	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09		7695887	173219373	62	23440											
MTRR	4552	genome.wustl.edu	37	5	7895940	7895940	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:7895940C>G	ENST00000264668.2	+	12	1762	c.1732C>G	c.(1732-1734)Ccg>Gcg	p.P578A	MTRR_ENST00000440940.2_Missense_Mutation_p.P551A	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	578					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CGGCATAGCCCCGTTTATTGG	0.408																																																0			5											112	111	111					5																	7895940		2203	4300	6503	7948940	SO:0001583	missense	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1732C>G	5.37:g.7895940C>G	ENSP00000264668:p.Pro578Ala		7948940	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417779	0.62622	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	D;D	0.95377	-3.69;-3.69	5.51	5.51	0.81932	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99410	1.0930	10	0.87932	D	0	-32.4484	19.4315	0.94772	0.0:1.0:0.0:0.0	.	578	Q9UBK8	MTRR_HUMAN	A	578;551	ENSP00000264668:P578A;ENSP00000402510:P551A	ENSP00000264668:P578A	P	+	1	0	MTRR	7948940	1.000000	0.71417	0.955000	0.39395	0.196000	0.23810	6.582000	0.74049	2.600000	0.87896	0.655000	0.94253	CCG		0.408	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			G	7895940	C	G	7895940	3	3	427	1	0	0	0	0	1	0	0	0	9961	623	22	3	1778	3	MTRR	5	7895940	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	200053	7895940	173019320	63	23441											
SPEF2	79925	genome.wustl.edu	37	5	35646871	35646871	+	Missense_Mutation	SNP	G	G	A	rs368259023		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:35646871G>A	ENST00000356031.3	+	5	842	c.688G>A	c.(688-690)Gag>Aag	p.E230K	SPEF2_ENST00000282469.6_Missense_Mutation_p.E230K|SPEF2_ENST00000509059.1_Missense_Mutation_p.E230K|SPEF2_ENST00000440995.2_Missense_Mutation_p.E230K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	230					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAGCACTCGAGGCCCAAAA	0.338																																																0			5						G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	73	78	76		688,688	5.8	1	5		76	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SPEF2	NM_024867.3,NM_144722.3	56,56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	230/1823,230/515	35646871	1,13003	2203	4299	6502	35682628	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.688G>A	5.37:g.35646871G>A	ENSP00000348314:p.Glu230Lys		35682628	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957203	0.73902	0.0	1.16E-4	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.34072	2.33;2.33;2.33;1.38;2.33	5.76	5.76	0.90799	.	0.411087	0.28119	N	0.016530	T	0.42899	0.1223	L	0.39633	1.23	0.80722	D	1	D;D;D	0.62365	0.991;0.983;0.983	B;B;P	0.50708	0.373;0.373;0.648	T	0.05435	-1.0885	10	0.28530	T	0.3	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	230;230;230	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	K	230;230;230;173;230	ENSP00000282469:E230K;ENSP00000348314:E230K;ENSP00000421593:E230K;ENSP00000426259:E173K;ENSP00000412125:E230K	ENSP00000282469:E230K	E	+	1	0	SPEF2	35682628	1.000000	0.71417	0.988000	0.46212	0.321000	0.28281	7.502000	0.81614	2.736000	0.93811	0.655000	0.94253	GAG		0.338	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		A	35646871	G	A	35646871	3	1	427	1	0	0	0	0	1	0	0	0	15037	1059	37	1	706	1	SPEF2	5	35646871	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	27750931	35646871	145268389	64	23442											
CARD6	84674	genome.wustl.edu	37	5	40853737	40853737	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:40853737C>A	ENST00000254691.5	+	3	2502	c.2303C>A	c.(2302-2304)cCt>cAt	p.P768H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	768					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGGTTCCATCCTTTGCCTTTT	0.473																																																0			5											88	101	96					5																	40853737		2202	4300	6502	40889494	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2303C>A	5.37:g.40853737C>A	ENSP00000254691:p.Pro768His		40889494	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976543	0.53720	.	.	ENSG00000132357	ENST00000254691	T	0.15952	2.38	5.15	5.15	0.70609	.	0.226589	0.31721	N	0.007174	T	0.31670	0.0804	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.02288	-1.1182	10	0.87932	D	0	-7.3634	16.1821	0.81915	0.0:1.0:0.0:0.0	.	768	Q9BX69	CARD6_HUMAN	H	768	ENSP00000254691:P768H	ENSP00000254691:P768H	P	+	2	0	CARD6	40889494	0.164000	0.22935	0.062000	0.19696	0.525000	0.34531	3.286000	0.51724	2.683000	0.91414	0.561000	0.74099	CCT		0.473	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			A	40853737	C	A	40853737	3	1	427	1	0	0	0	0	1	0	0	0	2650	681	24	3	2313	3	CARD6	5	40853737	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	5206866	40853737	140061523	65	23443											
PDE4D	5144	genome.wustl.edu	37	5	58273131	58273131	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:58273131C>G	ENST00000340635.6	-	12	1769	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	PDE4D_ENST00000502484.2_Missense_Mutation_p.E471Q|PDE4D_ENST00000317118.8_Missense_Mutation_p.E241Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.E402Q|PDE4D_ENST00000360047.5_Missense_Mutation_p.E396Q|PDE4D_ENST00000546160.1_Missense_Mutation_p.E471Q|PDE4D_ENST00000358923.6_Missense_Mutation_p.E230Q|PDE4D_ENST00000405755.2_Missense_Mutation_p.E410Q|PDE4D_ENST00000507116.1_Missense_Mutation_p.E468Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	532					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.E396*(2)|p.E410*(1)|p.E468*(1)|p.E471*(1)|p.E402*(1)|p.E532*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGATGGTTCTCTAAGACTGAG	0.353																																																7	Substitution - Nonsense(7)	lung(7)	5											123	113	116					5																	58273131		1846	4092	5938	58308888	SO:0001583	missense	5144				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1594G>C	5.37:g.58273131C>G	ENSP00000345502:p.Glu532Gln		58308888	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042442	0.93685	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.56	5.56	0.83823	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95790	0.8630	H	0.97874	4.095	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.998;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.99;0.996;0.99;0.992;0.992;0.99;1.0;0.999	D	0.96834	0.9613	10	0.87932	D	0	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	471;532;468;395;410;402;307;241	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	Q	532;401;396;468;230;241;402;410;471;471;230	ENSP00000345502:E532Q;ENSP00000353152:E396Q;ENSP00000424852:E468Q;ENSP00000351800:E230Q;ENSP00000321739:E241Q;ENSP00000425605:E402Q;ENSP00000384806:E410Q;ENSP00000423094:E471Q;ENSP00000442734:E471Q;ENSP00000421013:E230Q	ENSP00000321739:E241Q	E	-	1	0	PDE4D	58308888	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.890000	0.99128	0.655000	0.94253	GAG		0.353	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			G	58273131	C	G	58273131	3	3	427	1	0	0	0	0	1	0	0	0	11642	922	32	3	851	3	PDE4D	5	58273131	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	17419394	58273131	122642129	66	23444											
ADAMTS6	11174	genome.wustl.edu	37	5	64521995	64521995	+	IGR	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:64521995T>G								ADAMTS6 (27403 upstream) : ADAMTS6 (71039 downstream)																							ACGTTCAGTGTAGAAATTATA	0.443																																																0			5											105	97	100					5																	64521995		2203	4300	6503	64557751	SO:0001628	intergenic_variant	11174																															5.37:g.64521995T>G			64557751		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	T	8.757	0.922614	0.18056	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.63255	-0.03;-0.03	5.2	5.2	0.72013	.	0.058178	0.64402	D	0.000001	T	0.59169	0.2174	M	0.62016	1.91	0.80722	D	1	P;B	0.36222	0.544;0.265	B;B	0.34873	0.191;0.191	T	0.59085	-0.7520	10	0.29301	T	0.29	.	15.0583	0.71933	0.0:0.0:0.0:1.0	.	662;662	D6R9L6;Q9UKP5	.;ATS6_HUMAN	S	662;612;662	ENSP00000370443:Y662S;ENSP00000423551:Y662S	ENSP00000261306:Y612S	Y	-	2	0	ADAMTS6	64557751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.634000	0.83273	1.933000	0.56026	0.528000	0.53228	TAC	0	0.443									G	64521995	T	G	64521995	1	3	427	0	1	0	0	0	0	0	0	0	270	1638	57	5		5	ADAMTS6	5	64521995	IGR	SNP	T	TCGA-61-1740-01A-01W-0639-09	6248864	64521995	116393265	67	23445											
RASA1	5921	genome.wustl.edu	37	5	86679543	86679543	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:86679543C>G	ENST00000274376.6	+	21	3268	c.2704C>G	c.(2704-2706)Ctt>Gtt	p.L902V	RASA1_ENST00000512763.1_Missense_Mutation_p.L735V|RASA1_ENST00000456692.2_Missense_Mutation_p.L725V|RASA1_ENST00000506290.1_Missense_Mutation_p.L736V	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	902	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTTGTTTTTCTTCGACTCAT	0.279																																																0			5											70	65	66					5																	86679543		2203	4300	6503	86715299	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2704C>G	5.37:g.86679543C>G	ENSP00000274376:p.Leu902Val		86715299	B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858238	0.91433	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.86	5.86	0.93980	Ras GTPase-activating protein, conserved site (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	H	0.95611	3.695	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.996;0.999;0.996;0.991;0.995	T	0.78321	-0.2249	10	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	736;735;736;725;902	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	V	902;725;735;736	ENSP00000274376:L902V;ENSP00000411221:L725V;ENSP00000422008:L735V;ENSP00000420905:L736V	ENSP00000274376:L902V	L	+	1	0	RASA1	86715299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.937000	0.99478	0.650000	0.86243	CTT		0.279	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		G	86679543	C	G	86679543	3	3	427	1	0	0	0	0	1	0	0	0	13063	913	32	3	2798	3	RASA1	5	86679543	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	22157548	86679543	94235717	68	23446											
STARD4	134429	genome.wustl.edu	37	5	110835779	110835779	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:110835779C>A	ENST00000296632.3	-	6	557	c.423G>T	c.(421-423)aaG>aaT	p.K141N	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	141	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ATTCTGGTCTCTTTTCATCCC	0.338																																																0			5											62	61	61					5																	110835779		2202	4300	6502	110863678	SO:0001583	missense	134429			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"StAR-related lipid transfer (START) domain containing"	18058	protein-coding gene	gene with protein product		607049	"START domain containing 4, sterol regulated"			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.423G>T	5.37:g.110835779C>A	ENSP00000296632:p.Lys141Asn		110863678	Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	C	7.890	0.732021	0.15507	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.43294	0.95;0.95	5.69	4.82	0.62117	Lipid-binding START (2);START-like domain (1);	0.454958	0.24554	N	0.037540	T	0.26557	0.0649	N	0.22421	0.69	0.80722	D	1	B	0.27316	0.175	B	0.28465	0.09	T	0.08554	-1.0716	10	0.27785	T	0.31	-0.4055	6.696	0.23199	0.1447:0.7091:0.0:0.1462	.	141	Q96DR4	STAR4_HUMAN	N	141	ENSP00000296632:K141N;ENSP00000427478:K141N	ENSP00000296632:K141N	K	-	3	2	STARD4	110863678	0.851000	0.29673	1.000000	0.80357	0.998000	0.95712	0.582000	0.23834	1.405000	0.46838	0.655000	0.94253	AAG		0.338	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		A	110835779	C	A	110835779	3	1	427	1	0	0	0	0	1	0	0	0	15261	912	32	3	198	3	STARD4	5	110835779	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	24156236	110835779	70079481	69	23447											
PCDHGC3	5098	genome.wustl.edu	37	5	140857199	140857199	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:140857199G>C	ENST00000308177.3	+	1	1620	c.1516G>C	c.(1516-1518)Gtg>Ctg	p.V506L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCGGGCTAGTGGGTCGCTA	0.498																																																0			5											54	60	58					5																	140857199		2203	4300	6503	140837383	SO:0001583	missense	5098			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1516G>C	5.37:g.140857199G>C	ENSP00000312070:p.Val506Leu		140837383	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	5.536	0.283763	0.10458	.	.	ENSG00000240184	ENST00000308177	T	0.50001	0.76	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34193	0.0889	N	0.05592	-0.015	0.28101	N	0.931401	P;P	0.48503	0.911;0.649	P;B	0.49752	0.621;0.269	T	0.09885	-1.0654	9	0.02654	T	1	.	15.7284	0.77780	0.0:0.0:0.8632:0.1368	.	506;506	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	L	506	ENSP00000312070:V506L	ENSP00000312070:V506L	V	+	1	0	PCDHGC3	140837383	0.172000	0.23043	0.868000	0.34077	0.507000	0.33981	2.926000	0.48892	2.884000	0.98904	0.655000	0.94253	GTG		0.498	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		C	140857199	G	C	140857199	3	2	427	1	0	0	0	0	1	0	0	0	11569	1029	36	3	1518	3	PCDHGC3	5	140857199	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	30021420	140857199	40058061	70	23448											
ODZ2	57451	genome.wustl.edu	37	5	167474474	167474474	+	Missense_Mutation	SNP	A	A	G	rs114898031	byFrequency	TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:167474474A>G	ENST00000518659.1	+	6	1268	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G	TENM2_ENST00000403607.2_Missense_Mutation_p.D243G|TENM2_ENST00000545108.1_Missense_Mutation_p.D410G|TENM2_ENST00000519204.1_Missense_Mutation_p.D289G|TENM2_ENST00000520394.1_Intron	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	410					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGCCTGCAGATGGGCACACC	0.463											OREG0017008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	26	0.00519169	8e-04	0.0101	5008	,	,		20998	0		0.0159	False		,,,				2504	0.002															0			5						A	GLY/ASP	7,1377		0,7,685	106	88	93		1229	5.7	1	5	dbSNP_132	93	77,3105		1,75,1515	yes	missense	ODZ2	NM_001122679.1	94	1,82,2200	GG,GA,AA		2.4199,0.5058,1.8397	possibly-damaging	410/2766	167474474	84,4482	692	1591	2283	167407052	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1229A>G	5.37:g.167474474A>G	ENSP00000429430:p.Asp410Gly	1862	167407052	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		13	0.005952380952380952	0	0.0	4	0.011049723756906077	0	0.0	9	0.011873350923482849	A	16.21	3.058451	0.55325	0.005058	0.024199	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000403607	D;D;D;D	0.89415	-2.04;-2.03;-2.14;-2.51	5.67	5.67	0.87782	.	0.175663	0.46442	D	0.000281	T	0.79076	0.4385	L	0.34521	1.04	0.48236	D	0.999615	P;P	0.48640	0.858;0.913	B;P	0.47044	0.334;0.535	D	0.85154	0.0988	10	0.72032	D	0.01	.	15.5819	0.76448	1.0:0.0:0.0:0.0	.	410;289	Q9NT68;G3V106	TEN2_HUMAN;.	G	410;410;289;243	ENSP00000429430:D410G;ENSP00000438635:D410G;ENSP00000428964:D289G;ENSP00000384905:D243G	ENSP00000384905:D243G	D	+	2	0	ODZ2	167407052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.131000	0.71670	2.164000	0.68074	0.533000	0.62120	GAT		0.463	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		G	167474474	A	G	167474474	3	3	427	1	0	0	0	0	1	0	0	0	10835	333	12	4	1251	4	ODZ2	5	167474474	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	26617275	167474474	13440786	71	23449											
HIST1H2BJ	8970	genome.wustl.edu	37	6	27100197	27100197	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:27100197G>C	ENST00000607124.1	-	1	332	c.333C>G	c.(331-333)gcC>gcG	p.A111A	HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Silent_p.A111A|HIST1H2BJ_ENST00000541790.1_Silent_p.A111A			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	111					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CCTCGGACACGGCGTGCTTGG	0.587																																																0			6											81	82	82					6																	27100197		2203	4300	6503	27208176	SO:0001819	synonymous_variant	8970			X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.333C>G	6.37:g.27100197G>C			27208176	B2R4J4|O60816	Silent	SNP	ENST00000607124.1	37	CCDS4618.1																																																																																				0.587	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		C	27100197	G	C	27100197	2	2	427	1	0	0	0	0	0	0	0	1	7149	1103	39	3		3	HIST1H2BJ	6	27100197	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09		27100197	144014870	72	23450											
KCTD20	222658	genome.wustl.edu	37	6	36437884	36437884	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:36437884C>T	ENST00000373731.2	+	2	401	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	KCTD20_ENST00000536244.1_5'UTR|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000449081.2_Missense_Mutation_p.H4Y|KCTD20_ENST00000474988.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	4					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GATGAATGTTCACCGTGGCAG	0.453																																																0			6											111	102	105					6																	36437884		2203	4300	6503	36545862	SO:0001583	missense	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.10C>T	6.37:g.36437884C>T	ENSP00000362836:p.His4Tyr		36545862	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860991	0.32884	.	.	ENSG00000112078	ENST00000373731;ENST00000483557;ENST00000498267;ENST00000449081;ENST00000460983	T	0.45276	0.9	5.53	3.63	0.41609	.	0.641199	0.15130	N	0.278898	T	0.14830	0.0358	N	0.24115	0.695	0.38084	D	0.936779	B;B	0.17268	0.021;0.012	B;B	0.19391	0.025;0.016	T	0.06588	-1.0818	10	0.72032	D	0.01	-1.6512	8.1388	0.31071	0.2589:0.5912:0.1499:0.0	.	4;4	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	Y	4	ENSP00000362836:H4Y	ENSP00000265344:H4Y	H	+	1	0	KCTD20	36545862	0.179000	0.23135	0.816000	0.32577	0.538000	0.34931	2.041000	0.41213	1.313000	0.45069	0.655000	0.94253	CAC		0.453	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		T	36437884	C	T	36437884	3	4	427	1	0	0	0	0	1	0	0	0	8108	826	29	2	12	2	KCTD20	6	36437884	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	9337687	36437884	134677183	73	23451											
CDC5L	988	genome.wustl.edu	37	6	44397600	44397600	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:44397600C>G	ENST00000371477.3	+	14	2343	c.2044C>G	c.(2044-2046)Ctg>Gtg	p.L682V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	682					cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGGGCCAATCTGGCTAGTAA	0.398																																																0			6											79	82	81					6																	44397600		2203	4300	6503	44505578	SO:0001583	missense	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2044C>G	6.37:g.44397600C>G	ENSP00000360532:p.Leu682Val		44505578	Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791379	0.31685	.	.	ENSG00000096401	ENST00000371477	T	0.45276	0.9	5.81	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.48218	1.51	0.52501	D	0.999951	B	0.33448	0.412	B	0.34242	0.178	T	0.03684	-1.1013	10	0.15066	T	0.55	-9.4027	12.011	0.53286	0.0:0.7673:0.0:0.2327	.	682	Q99459	CDC5L_HUMAN	V	682	ENSP00000360532:L682V	ENSP00000360532:L682V	L	+	1	2	CDC5L	44505578	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	0.963000	0.29293	1.454000	0.47793	0.650000	0.86243	CTG		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			G	44397600	C	G	44397600	3	3	427	1	0	0	0	0	1	0	0	0	3082	912	32	3	2098	3	CDC5L	6	44397600	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	7959716	44397600	126717467	74	23452											
GPR116	221395	genome.wustl.edu	37	6	46825964	46825964	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:46825964G>C	ENST00000283296.7	-	17	3964	c.3676C>G	c.(3676-3678)Cca>Gca	p.P1226A	GPR116_ENST00000362015.4_Missense_Mutation_p.P1226A|GPR116_ENST00000456426.2_Missense_Mutation_p.P1084A|GPR116_ENST00000545669.1_Missense_Mutation_p.P655A|GPR116_ENST00000265417.7_Missense_Mutation_p.P1226A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1226					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCCAAGAGTGGTGTGAGGACC	0.517																																					NSCLC(59;410 1274 8751 36715 50546)											0			6											140	129	133					6																	46825964		2203	4300	6503	46933923	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3676C>G	6.37:g.46825964G>C	ENSP00000283296:p.Pro1226Ala		46933923	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244141	0.79912	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	5.38	5.38	0.77491	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000014	T	0.78710	0.4326	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80837	-0.1204	10	0.51188	T	0.08	-16.7704	19.5002	0.95091	0.0:0.0:1.0:0.0	.	655;781;1226;1084;1226	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	A	1226;1226;1226;1084;597;1226;655	ENSP00000283296:P1226A;ENSP00000354563:P1226A;ENSP00000412866:P1084A;ENSP00000265417:P1226A;ENSP00000441581:P655A	ENSP00000265417:P1226A	P	-	1	0	GPR116	46933923	1.000000	0.71417	0.837000	0.33122	0.961000	0.63080	9.779000	0.99018	2.679000	0.91253	0.650000	0.86243	CCA		0.517	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		C	46825964	G	C	46825964	3	2	427	1	0	0	0	0	1	0	0	0	6633	1261	44	3	384	3	GPR116	6	46825964	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	2428364	46825964	124289103	75	23453											
DST	667	genome.wustl.edu	37	6	56481863	56481863	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:56481863C>T	ENST00000370765.6	-	24	6509	c.6402G>A	c.(6400-6402)acG>acA	p.T2134T	DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1891					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.T2134T(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGGCTTTCGTCAGAAACT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	6											49	50	50					6																	56481863		2203	4300	6503	56589822	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6402G>A	6.37:g.56481863C>T			56589822	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	CCDS4959.1																																																																																				0.423	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56481863	C	T	56481863	2	4	427	1	0	0	0	0	0	0	0	1	4783	871	31	1		1	DST	6	56481863	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	9655899	56481863	114633204	76	23454											
KPNA5	3841	genome.wustl.edu	37	6	117046967	117046967	+	Silent	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:117046967A>C	ENST00000368564.1	+	11	1201	c.1053A>C	c.(1051-1053)ccA>ccC	p.P351P	KPNA5_ENST00000356348.1_Silent_p.P351P			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	348	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGAGTAGCCCAAAGGAGTCAA	0.358																																																0			6											74	73	73					6																	117046967		2202	4300	6502	117153660	SO:0001819	synonymous_variant	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1053A>C	6.37:g.117046967A>C			117153660	B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	37	CCDS5111.1																																																																																				0.358	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		C	117046967	A	C	117046967	2	2	427	1	0	0	0	0	0	0	0	1	8433	117	5	5		5	KPNA5	6	117046967	Silent	SNP	A	TCGA-61-1740-01A-01W-0639-09	60565104	117046967	54068100	77	23455											
GPRC6A	222545	genome.wustl.edu	37	6	117113877	117113877	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:117113877G>T	ENST00000310357.3	-	6	2230	c.2209C>A	c.(2209-2211)Ccc>Acc	p.P737T	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P666T|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P562T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	737					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGACTCTGGGCAAGGAGACA	0.488																																																0			6											63	59	60					6																	117113877		2203	4300	6503	117220570	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2209C>A	6.37:g.117113877G>T	ENSP00000309493:p.Pro737Thr		117220570	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115879	0.56505	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87571	-2.27;-2.27;-2.27	4.37	4.37	0.52481	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000058	D	0.88009	0.6322	L	0.53249	1.67	0.38808	D	0.955353	D;P;D	0.65815	0.995;0.849;0.975	D;P;P	0.63488	0.915;0.555;0.772	D	0.85261	0.1050	10	0.20046	T	0.44	.	17.0959	0.86635	0.0:0.0:1.0:0.0	.	666;562;737	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	T	737;666;562	ENSP00000309493:P737T;ENSP00000357537:P666T;ENSP00000433465:P562T	ENSP00000309493:P737T	P	-	1	0	GPRC6A	117220570	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.991000	0.49409	2.270000	0.75569	0.591000	0.81541	CCC		0.488	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			T	117113877	G	T	117113877	3	4	427	1	0	0	0	0	1	0	0	0	6728	1203	42	3	575	3	GPRC6A	6	117113877	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	66910	117113877	54001190	78	23456											
SCIN	85477	genome.wustl.edu	37	7	12691502	12691502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:12691502G>T	ENST00000297029.5	+	15	2097	c.1996G>T	c.(1996-1998)Gag>Tag	p.E666*	AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000519209.1_Nonsense_Mutation_p.E419*|SCIN_ENST00000445618.2_Nonsense_Mutation_p.E419*	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	666	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TAATGAAGTTGAGAAAAAAGA	0.398																																																0			7											139	128	132					7																	12691502		1850	4097	5947	12658027	SO:0001587	stop_gained	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1996G>T	7.37:g.12691502G>T	ENSP00000297029:p.Glu666*		12658027	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Nonsense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	39	7.870270	0.98534	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.0567	19.9254	0.97100	0.0:0.0:1.0:0.0	.	.	.	.	X	666;419;419	.	ENSP00000297029:E666X	E	+	1	0	SCIN	12658027	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.830000	0.92063	2.710000	0.92621	0.655000	0.94253	GAG		0.398	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		T	12691502	G	T	12691502	4	4	427	1	0	0	0	0	0	1	0	0	13908	1291	45	3	2054	3	SCIN	7	12691502	Nonsense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09		12691502	146447161	79	23457											
FERD3L	222894	genome.wustl.edu	37	7	19184740	19184740	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:19184740G>A	ENST00000275461.3	-	1	304	c.246C>T	c.(244-246)cgC>cgT	p.R82R	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	82					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CAcctcttccgcgctcctctt	0.612																																																0			7											71	54	60					7																	19184740		2203	4300	6503	19151265	SO:0001819	synonymous_variant	222894			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.246C>T	7.37:g.19184740G>A			19151265	Q495K0	Silent	SNP	ENST00000275461.3	37	CCDS5368.1																																																																																				0.612	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			A	19184740	G	A	19184740	2	1	427	1	0	0	0	0	0	0	0	1	5816	1074	38	1		1	FERD3L	7	19184740	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	6493238	19184740	139953923	80	23458											
EPDR1	54749	genome.wustl.edu	37	7	37960375	37960375	+	5'UTR	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:37960375C>T	ENST00000199448.4	+	0	213				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Missense_Mutation_p.S65F|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						ACTCGCGCGTCCGGATCTCAA	0.667																																																0			7											19	28	25					7																	37960375		2200	4293	6493	37926900	SO:0001623	5_prime_UTR_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-167C>T	7.37:g.37960375C>T			37926900	A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334676	0.41297	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	3.6	1.77	0.24775	.	14.568000	0.00531	N	0.000207	T	0.26557	0.0649	N	0.08118	0	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.26467	-1.0102	9	0.72032	D	0.01	.	5.7765	0.18281	0.0:0.746:0.0:0.254	.	65	A4D1W8	.	F	65;39	.	ENSP00000199448:S65F	S	+	2	0	EPDR1	37926900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	0.326000	0.23384	-0.253000	0.11424	TCC		0.667	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		T	37960375	C	T	37960375	1	4	427	0	1	0	0	0	0	0	0	0	5163	855	30	2		2	EPDR1	7	37960375	5'UTR	SNP	C	TCGA-61-1740-01A-01W-0639-09	18775635	37960375	121178288	81	23459											
GTF2IRD2	84163	genome.wustl.edu	37	7	74236962	74236962	+	Silent	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:74236962A>G	ENST00000405086.2	-	6	753	c.564T>C	c.(562-564)agT>agC	p.S188S	GTF2IRD2_ENST00000361071.5_Silent_p.S188S|GTF2IRD2_ENST00000453619.2_Silent_p.S188S	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						TACCCAGCTGACTCTCTGGTC	0.498																																					NSCLC(40;560 1096 7501 40315 49546)											0			7											6	7	6					7																	74236962		2110	4195	6305	73874898	SO:0001819	synonymous_variant	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.564T>C	7.37:g.74236962A>G			73874898	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	CCDS5576.1																																																																																				0.498	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		G	74236962	A	G	74236962	2	3	427	1	0	0	0	0	0	0	0	1	6869	272	10	4		4	GTF2IRD2	7	74236962	Silent	SNP	A	TCGA-61-1740-01A-01W-0639-09	36276587	74236962	84901701	82	23460											
MUC17	140453	genome.wustl.edu	37	7	100686157	100686157	+	Silent	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:100686157C>A	ENST00000306151.4	+	3	11524	c.11460C>A	c.(11458-11460)ctC>ctA	p.L3820L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3820	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTGTCCTCATCAGCCCTA	0.493																																																0			7											97	86	90					7																	100686157		2203	4300	6503	100472877	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11460C>A	7.37:g.100686157C>A			100472877	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100686157	C	A	100686157	2	1	427	1	0	0	0	0	0	0	0	1	9974	813	29	3		3	MUC17	7	100686157	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	26449195	100686157	58452506	83	23461											
RBM28	55131	genome.wustl.edu	37	7	127965904	127965904	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:127965904C>G	ENST00000223073.2	-	11	1284	c.1170G>C	c.(1168-1170)caG>caC	p.Q390H	RBM28_ENST00000415472.2_Missense_Mutation_p.Q249H	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	390	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GAAGGCATTTCTGAGCTGCTT	0.453																																																0			7											62	57	58					7																	127965904		2203	4300	6503	127753140	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1170G>C	7.37:g.127965904C>G	ENSP00000223073:p.Gln390His		127753140	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967221	0.74131	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.17054	2.3;2.3	6.17	4.39	0.52855	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.111897	0.64402	D	0.000007	T	0.37945	0.1022	M	0.67700	2.07	0.37105	D	0.900096	D;D;D	0.71674	0.99;0.998;0.99	D;D;D	0.83275	0.95;0.996;0.95	T	0.39881	-0.9592	10	0.59425	D	0.04	-22.6556	11.0453	0.47855	0.0:0.851:0.0:0.149	.	249;390;249	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	H	390;249	ENSP00000223073:Q390H;ENSP00000390517:Q249H	ENSP00000223073:Q390H	Q	-	3	2	RBM28	127753140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.599000	0.24089	0.955000	0.37878	0.655000	0.94253	CAG		0.453	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		G	127965904	C	G	127965904	3	3	427	1	0	0	0	0	1	0	0	0	13131	912	32	3	1145	3	RBM28	7	127965904	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	27279747	127965904	31172759	84	23462											
SSPO	23145	genome.wustl.edu	37	7	149519262	149519262	+	RNA	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:149519262G>T	ENST00000378016.2	+	0	13066							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGACACCCAGGGCTGCTACTC	0.597																																																0			7											38	42	41					7																	149519262		1929	4124	6053	149150195			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149519262G>T			149150195	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.597	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149519262	G	T	149519262	1	4	427	0	1	0	0	0	0	0	0	0	15191	1232	43	3		3	SSPO	7	149519262	RNA	SNP	G	TCGA-61-1740-01A-01W-0639-09	21553358	149519262	9619401	85	23463											
ABP1	26	genome.wustl.edu	37	7	150555958	150555958	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:150555958T>A	ENST00000493429.1	+	5	2262	c.1678T>A	c.(1678-1680)Tcc>Acc	p.S560T	AOC1_ENST00000416793.2_Missense_Mutation_p.S560T|AOC1_ENST00000467291.1_Missense_Mutation_p.S560T|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.S560T			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	560					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GACGCAGTACTCCTGGGAGCG	0.592																																																0			7											29	33	32					7																	150555958		1980	4165	6145	150186891	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1678T>A	7.37:g.150555958T>A	ENSP00000418614:p.Ser560Thr		150186891	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	T	1.959	-0.439280	0.04636	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.03524	3.9;3.9;3.9;3.9	5.57	-6.94	0.01633	Copper amine oxidase, C-terminal (3);	1.413890	0.03680	N	0.245342	T	0.03178	0.0093	L	0.33339	1.005	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.17433	0.018;0.006	T	0.42932	-0.9422	10	0.21014	T	0.42	-33.5783	8.3714	0.32417	0.1093:0.6411:0.1107:0.139	.	560;560	C9J690;P19801	.;ABP1_HUMAN	T	560;560;560;86;560;436	ENSP00000418614:S560T;ENSP00000418328:S560T;ENSP00000354193:S560T;ENSP00000411613:S560T	ENSP00000354193:S560T	S	+	1	0	ABP1	150186891	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.846000	0.04336	-1.120000	0.02953	-0.366000	0.07423	TCC		0.592	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		A	150555958	T	A	150555958	3	1	427	1	0	0	0	0	1	0	0	0	98	1551	54	5	1684	5	ABP1	7	150555958	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	1036696	150555958	8582705	86	23464											
UBE3C	9690	genome.wustl.edu	37	7	157015955	157015955	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:157015955G>C	ENST00000348165.5	+	16	2370	c.2010G>C	c.(2008-2010)ttG>ttC	p.L670F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	670					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TAGTGGGTTTGGAGTCCCCGC	0.428																																																0			7											154	146	149					7																	157015955		2203	4300	6503	156708716	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2010G>C	7.37:g.157015955G>C	ENSP00000309198:p.Leu670Phe		156708716	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868952	0.32977	.	.	ENSG00000009335	ENST00000348165	T	0.46063	0.88	5.08	4.2	0.49525	.	0.142453	0.47852	D	0.000216	T	0.29256	0.0728	N	0.22421	0.69	0.80722	D	1	B;B	0.32010	0.351;0.241	B;B	0.28784	0.094;0.061	T	0.10177	-1.0641	10	0.52906	T	0.07	.	13.2663	0.60135	0.0774:0.0:0.9226:0.0	.	670;523	Q15386;B4DHJ9	UBE3C_HUMAN;.	F	670	ENSP00000309198:L670F	ENSP00000309198:L670F	L	+	3	2	UBE3C	156708716	1.000000	0.71417	0.969000	0.41365	0.879000	0.50718	2.303000	0.43646	1.130000	0.42092	0.585000	0.79938	TTG		0.428	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		C	157015955	G	C	157015955	3	2	427	1	0	0	0	0	1	0	0	0	16881	1339	47	3	2072	3	UBE3C	7	157015955	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	6459997	157015955	2122708	87	23465											
ARHGEF10	9639	genome.wustl.edu	37	8	1882101	1882101	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:1882101C>A	ENST00000398564.1	+	26	3290	c.3290C>A	c.(3289-3291)gCt>gAt	p.A1097D	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A1034D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A1068D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A1096D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A1072D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1097					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAGACTCATGCTGTAGAGGTA	0.493																																																0			8											131	119	123					8																	1882101		2203	4300	6503	1869508	SO:0001583	missense	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3290C>A	8.37:g.1882101C>A	ENSP00000381571:p.Ala1097Asp		1869508	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	C	2.633	-0.285844	0.05605	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;1.58;1.58	5.11	1.12	0.20585	.	0.584303	0.19684	N	0.108456	T	0.32224	0.0822	N	0.08118	0	0.09310	N	1	B;B	0.32071	0.355;0.001	B;B	0.31191	0.125;0.026	T	0.23119	-1.0197	10	0.12430	T	0.62	-0.1988	5.7246	0.18006	0.3347:0.4862:0.0:0.1791	.	1034;1072	O15013-7;O15013-5	.;.	D	1072;1034;1096;1097;1068;716	ENSP00000340297:A1072D;ENSP00000427909:A1034D;ENSP00000431012:A1096D;ENSP00000381571:A1097D;ENSP00000262112:A1068D;ENSP00000427768:A716D	ENSP00000262112:A1068D	A	+	2	0	ARHGEF10	1869508	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.934000	0.28910	-0.017000	0.14103	-0.953000	0.02652	GCT		0.493	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				A	1882101	C	A	1882101	3	1	427	1	0	0	0	0	1	0	0	0	894	797	28	3	3313	3	ARHGEF10	8	1882101	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09		1882101	144481921	88	23466											
C8orf80	389643	genome.wustl.edu	37	8	27880848	27880848	+	Missense_Mutation	SNP	C	C	T	rs376263360	byFrequency	TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:27880848C>T	ENST00000413272.2	-	19	2519	c.2377G>A	c.(2377-2379)Ggg>Agg	p.G793R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G793R	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	793					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AGTGATGTCCCGGGGGGGCCA	0.527													C|||	2	0.000399361	0.0015	0	5008	,	,		19563	0		0	False		,,,				2504	0															0			8						C	ARG/GLY	1,3761		0,1,1880	32	34	34		2377	-0.7	0	8		34	0,8222		0,0,4111	no	missense	C8orf80	NM_001010906.1	125	0,1,5991	TT,TC,CC		0.0,0.0266,0.0083	benign	793/797	27880848	1,11983	1881	4111	5992	27936767	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2377G>A	8.37:g.27880848C>T	ENSP00000408697:p.Gly793Arg		27936767	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	0.802	-0.755191	0.03019	2.66E-4	0.0	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.13420	2.59;2.6	4.83	-0.721	0.11189	.	1.636260	0.03056	N	0.155187	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29701	-1.0003	10	0.08179	T	0.78	1.12	5.1336	0.14922	0.0:0.3385:0.1991:0.4624	.	793	Q68CJ6	SLIP_HUMAN	R	793	ENSP00000408697:G793R;ENSP00000345031:G793R	ENSP00000345031:G793R	G	-	1	0	C8orf80	27936767	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.116000	0.03286	0.049000	0.15920	-0.423000	0.05987	GGG		0.527	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		T	27880848	C	T	27880848	3	4	427	1	0	0	0	0	1	0	0	0	2439	652	23	1	17	1	C8orf80	8	27880848	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	25998747	27880848	118483174	89	23467											
LRRCC1	85444	genome.wustl.edu	37	8	86047174	86047174	+	Silent	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:86047174T>G	ENST00000360375.3	+	13	2210	c.2061T>G	c.(2059-2061)tcT>tcG	p.S687S	LRRCC1_ENST00000414626.2_Silent_p.S667S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	687				S -> P (in Ref. 2; BAB71626). {ECO:0000305}.	mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGTCTTCCTCTTTAATTAAAG	0.338																																																0			8											76	74	75					8																	86047174		1813	4061	5874	86234426	SO:0001819	synonymous_variant	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2061T>G	8.37:g.86047174T>G			86234426	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	CCDS43750.1																																																																																				0.338	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		G	86047174	T	G	86047174	2	3	427	1	0	0	0	0	0	0	0	1	9026	1596	56	5		5	LRRCC1	8	86047174	Silent	SNP	T	TCGA-61-1740-01A-01W-0639-09	58166326	86047174	60316848	90	23468											
EBAG9	9166	genome.wustl.edu	37	8	110573097	110573097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:110573097G>T	ENST00000337573.5	+	6	760	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	EBAG9_ENST00000395785.2_Nonsense_Mutation_p.E154*|EBAG9_ENST00000531677.1_Nonsense_Mutation_p.E154*	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	154					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TACCTGGCAGGAAAATACCAA	0.388																																																0			8											110	103	105					8																	110573097		2203	4300	6503	110642273	SO:0001587	stop_gained	9166			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.460G>T	8.37:g.110573097G>T	ENSP00000337675:p.Glu154*		110642273	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Nonsense_Mutation	SNP	ENST00000337573.5	37	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147121	0.57151	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.42	5.42	0.78866	.	0.135212	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.3163	18.5622	0.91104	0.0:0.0:1.0:0.0	.	.	.	.	X	154	.	ENSP00000337675:E154X	E	+	1	0	EBAG9	110642273	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.437000	0.97535	2.689000	0.91719	0.591000	0.81541	GAA		0.388	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		T	110573097	G	T	110573097	4	4	427	1	0	0	0	0	0	1	0	0	4879	1175	41	3	478	3	EBAG9	8	110573097	Nonsense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	24525923	110573097	35790925	91	23469											
KCNQ3	3786	genome.wustl.edu	37	8	133187850	133187850	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:133187850G>C	ENST00000388996.4	-	5	1203	c.783C>G	c.(781-783)ctC>ctG	p.L261L	KCNQ3_ENST00000521134.1_Silent_p.L141L|KCNQ3_ENST00000519445.1_Silent_p.L261L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	261					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)			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)	AGGCCGTGATGAGTTCCTGAA	0.493																																																0			8											80	79	79					8																	133187850		2203	4300	6503	133257032	SO:0001819	synonymous_variant	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.783C>G	8.37:g.133187850G>C			133257032	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																				0.493	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		C	133187850	G	C	133187850	2	2	427	1	0	0	0	0	0	0	0	1	8084	1277	45	3		3	KCNQ3	8	133187850	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	22614753	133187850	13176172	92	23470											
JAK2	3717	genome.wustl.edu	37	9	5126737	5126737	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:5126737C>T	ENST00000381652.3	+	25	3839	c.3345C>T	c.(3343-3345)tcC>tcT	p.S1115S	JAK2_ENST00000539801.1_Silent_p.S1115S|JAK2_ENST00000487310.1_3'UTR|JAK2_ENST00000544510.1_Silent_p.S966S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1115	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AACGCCCCTCCTTTAGGGATC	0.368		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	0			9											87	81	83					9																	5126737		2203	4300	6503	5116737	SO:0001819	synonymous_variant	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3345C>T	9.37:g.5126737C>T			5116737	O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																				0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			T	5126737	C	T	5126737	2	4	427	1	0	0	0	0	0	0	0	1	7938	668	24	2		2	JAK2	9	5126737	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09		5126737	136086694	93	23471											
BAG1	573	genome.wustl.edu	37	9	33261093	33261093	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:33261093C>T	ENST00000379704.2	-	3	743	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	BAG1_ENST00000472232.3_Missense_Mutation_p.G219R|BAG1_ENST00000467389.2_5'Flank			Q99933	BAG1_HUMAN	BCL2-associated athanogene	219	7 X 6 AA tandem repeat of E-E-X(4).				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			ACCTTTTTCCCAATTAACATG	0.398																																					GBM(77;1066 1502 5858 12192)											0			9											99	96	97					9																	33261093		2203	4300	6503	33251093	SO:0001583	missense	573			AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.310G>A	9.37:g.33261093C>T	ENSP00000369026:p.Gly104Arg		33251093	O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	ENST00000379704.2	37	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	C	38	7.202288	0.98132	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	T;T;T	0.72942	-0.7;-0.7;-0.7	5.06	5.06	0.68205	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.80576	0.4649	M	0.80332	2.49	0.80722	D	1	P;P	0.49447	0.771;0.924	P;P	0.54924	0.504;0.764	T	0.82279	-0.0536	10	0.54805	T	0.06	-17.0671	13.798	0.63182	0.0:1.0:0.0:0.0	.	148;219	Q99933-3;Q99933	.;BAG1_HUMAN	R	219;104;104;110	ENSP00000420514:G219R;ENSP00000369026:G104R;ENSP00000419092:G110R	ENSP00000369022:G104R	G	-	1	0	BAG1	33251093	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.326000	0.72905	2.619000	0.88677	0.655000	0.94253	GGG		0.398	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323		T	33261093	C	T	33261093	3	4	427	1	0	0	0	0	1	0	0	0	1286	594	21	2	402	2	BAG1	9	33261093	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	28134356	33261093	107952338	94	23472											
CNTFR	1271	genome.wustl.edu	37	9	34564607	34564607	+	Silent	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:34564607C>A	ENST00000378980.3	-	4	602	c.309G>T	c.(307-309)ctG>ctT	p.L103L	CNTFR_ENST00000351266.4_Silent_p.L103L	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	103	Ig-like C2-type.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGCCCACATGCAGCAGGACTT	0.627																																																0			9											80	71	74					9																	34564607		2202	4300	6502	34554607	SO:0001819	synonymous_variant	1271			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.309G>T	9.37:g.34564607C>A			34554607	Q5U050	Silent	SNP	ENST00000378980.3	37	CCDS6558.1																																																																																				0.627	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			A	34564607	C	A	34564607	2	1	427	1	0	0	0	0	0	0	0	1	3638	697	25	3		3	CNTFR	9	34564607	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	1303514	34564607	106648824	95	23473											
VPS13A	23230	genome.wustl.edu	37	9	80020896	80020896	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:80020896A>T	ENST00000360280.3	+	70	9652	c.9392A>T	c.(9391-9393)gAa>gTa	p.E3131V	VPS13A_ENST00000376646.3_Missense_Mutation_p.E67V|VPS13A_ENST00000484581.2_Missense_Mutation_p.E67V|VPS13A_ENST00000376636.3_Missense_Mutation_p.E3092V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3131					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTGCGCATTGAAGCAAAGGTA	0.338																																																0			9											175	168	170					9																	80020896		2203	4300	6503	79210716	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9392A>T	9.37:g.80020896A>T	ENSP00000353422:p.Glu3131Val		79210716	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.85|18.85	3.710821|3.710821	0.68730|0.68730	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376636;ENST00000360280;ENST00000484581;ENST00000376646|ENST00000467124	T;T;T;T|.	0.71698|.	0.78;0.87;-0.59;-0.59|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.68732|.	0.3033|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;P|.	0.48016|.	0.041;0.904|.	B;P|.	0.51170|.	0.054;0.661|.	T|.	0.66110|.	-0.6005|.	9|.	.|.	.|.	.|.	.|.	16.0339|16.0339	0.80608|0.80608	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3092;3131|.	Q96RL7-3;Q96RL7|.	.;VP13A_HUMAN|.	V|X	3092;3131;67;67|5	ENSP00000365823:E3092V;ENSP00000353422:E3131V;ENSP00000446020:E67V;ENSP00000365834:E67V|.	.|.	E|K	+|+	2|1	0|0	VPS13A|VPS13A	79210716|79210716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.723000|8.723000	0.91458|0.91458	2.260000|2.260000	0.74910|0.74910	0.528000|0.528000	0.53228|0.53228	GAA|AAG		0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	80020896	A	T	80020896	3	4	427	1	0	0	0	0	1	0	0	0	17189	246	9	5	9798	5	VPS13A	9	80020896	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	45456289	80020896	61192535	96	23474											
TGFBR1	7046	genome.wustl.edu	37	9	101900216	101900216	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:101900216G>C	ENST00000374994.4	+	4	767	c.650G>C	c.(649-651)gGa>gCa	p.G217A	TGFBR1_ENST00000374990.2_Missense_Mutation_p.G140A|TGFBR1_ENST00000550253.1_Missense_Mutation_p.G148A|TGFBR1_ENST00000552516.1_Missense_Mutation_p.G221A	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTCGATTTGGAGAAGTTTGG	0.403																																																0			9											144	143	143					9																	101900216		2203	4300	6503	100940037	SO:0001583	missense	7046				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.650G>C	9.37:g.101900216G>C	ENSP00000364133:p.Gly217Ala		100940037	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282105	0.80692	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90164	0.6926	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.982;0.998	D	0.91021	0.4857	9	.	.	.	.	18.3707	0.90406	0.0:0.0:1.0:0.0	.	140;217	P36897-3;P36897	.;TGFR1_HUMAN	A	217;217;140;221;71;148	ENSP00000364133:G217A;ENSP00000364129:G140A;ENSP00000447297:G221A;ENSP00000449028:G71A;ENSP00000450052:G148A	.	G	+	2	0	TGFBR1	100940037	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	9.810000	0.99221	2.642000	0.89623	0.650000	0.86243	GGA		0.403	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			C	101900216	G	C	101900216	3	2	427	1	0	0	0	0	1	0	0	0	15821	1174	41	3	664	3	TGFBR1	9	101900216	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	21879320	101900216	39313215	97	23475											
SARDH	1757	genome.wustl.edu	37	9	136561478	136561478	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:136561478C>G	ENST00000371872.4	-	14	1931	c.1674G>C	c.(1672-1674)aaG>aaC	p.K558N	SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.K558N|SARDH_ENST00000422262.2_Missense_Mutation_p.K390N	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	558					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGCACTCCTTCTTGATCTGAA	0.587																																																0			9											64	63	63					9																	136561478		2203	4300	6503	135551299	SO:0001583	missense	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1674G>C	9.37:g.136561478C>G	ENSP00000360938:p.Lys558Asn		135551299	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.868040	0.32977	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.83419	-1.72;-1.72;-1.72	5.25	5.25	0.73442	.	0.516914	0.20204	N	0.097031	T	0.68137	0.2968	N	0.05124	-0.11	0.80722	D	1	B	0.13594	0.008	B	0.14578	0.011	T	0.66412	-0.5930	10	0.66056	D	0.02	-20.1981	12.8623	0.57920	0.0:0.9203:0.0:0.0797	.	558	Q9UL12	SARDH_HUMAN	N	558;558;390;558	ENSP00000360938:K558N;ENSP00000403084:K558N;ENSP00000415537:K390N	ENSP00000360938:K558N	K	-	3	2	SARDH	135551299	0.703000	0.27826	0.962000	0.40283	0.711000	0.40976	3.037000	0.49775	2.410000	0.81850	0.655000	0.94253	AAG		0.587	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			G	136561478	C	G	136561478	3	3	427	1	0	0	0	0	1	0	0	0	13844	912	32	3	1114	3	SARDH	9	136561478	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	34661262	136561478	4651953	98	23476											
STAM	8027	genome.wustl.edu	37	10	17746994	17746994	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:17746994C>T	ENST00000377524.3	+	11	1241	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	STAM_ENST00000540523.1_Silent_p.L231L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	342					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGGACCTCTCATTGATGAAA	0.353																																																0			10											149	140	143					10																	17746994		2203	4300	6503	17787000	SO:0001819	synonymous_variant	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1026C>T	10.37:g.17746994C>T			17787000	B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	ENST00000377524.3	37	CCDS7122.1																																																																																				0.353	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		T	17746994	C	T	17746994	2	4	427	1	0	0	0	0	0	0	0	1	15250	813	29	2		2	STAM	10	17746994	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09		17746994	117787753	99	23477											
ANUBL1	93550	genome.wustl.edu	37	10	46113604	46113604	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:46113604T>G	ENST00000344646.5	-	9	2247	c.2032A>C	c.(2032-2034)Agt>Cgt	p.S678R	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Nonstop_Mutation_p.*225S|ZFAND4_ENST00000374366.3_Missense_Mutation_p.S604R	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	678							zinc ion binding (GO:0008270)										TCGTAGCTACTAGCCAGTCCT	0.418																																																0			10											72	72	72					10																	46113604		2203	4300	6503	45433610	SO:0001583	missense	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.2032A>C	10.37:g.46113604T>G	ENSP00000339484:p.Ser678Arg		45433610	A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	CCDS7214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.89|17.89	3.499617|3.499617	0.64298|0.64298	.|.	.|.	ENSG00000172671|ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370|ENST00000374371;ENST00000374376	T;T|.	0.42513|.	0.97;0.97|.	5.99|5.99	5.99|5.99	0.97316|0.97316	Zinc finger, AN1-type (4);|.	0.128035|.	0.50627|.	D|.	0.000120|.	T|.	0.56262|.	0.1973|.	L|L	0.32530|0.32530	0.975|0.975	0.41020|0.41020	D|D	0.985076|0.985076	P|.	0.48089|.	0.905|.	P|.	0.48063|.	0.565|.	T|.	0.53746|.	-0.8395|.	10|.	0.87932|.	D|.	0|.	-23.8313|-23.8313	14.4463|14.4463	0.67352|0.67352	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	678|.	Q86XD8|.	ANUB1_HUMAN|.	R|S	678;604;560|225	ENSP00000339484:S678R;ENSP00000363486:S604R|.	ENSP00000339484:S678R|.	S|X	-|-	1|2	0|0	ANUBL1|ANUBL1	45433610|45433610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.353000|7.353000	0.79414|0.79414	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	AGT|TAG		0.418	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		G	46113604	T	G	46113604	3	3	427	1	0	0	0	0	1	0	0	0	713	1522	53	5	159	5	ANUBL1	10	46113604	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	28366610	46113604	89421143	100	23478											
CTNNA3	29119	genome.wustl.edu	37	10	68526038	68526038	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:68526038G>A	ENST00000433211.2	-	9	1439	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	CTNNA3_ENST00000373744.4_Missense_Mutation_p.T422I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAGCCTGCTGGTGTGTTCATG	0.418																																																0			10											206	189	194					10																	68526038		2203	4300	6503	68196044	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1265C>T	10.37:g.68526038G>A	ENSP00000389714:p.Thr422Ile		68196044		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712982	0.89112	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37235	1.21;1.21	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000012	T	0.47619	0.1455	L	0.29908	0.895	0.80722	D	1	B;D	0.57257	0.331;0.979	B;P	0.60236	0.182;0.871	T	0.39542	-0.9609	10	0.87932	D	0	-21.1257	18.3732	0.90420	0.0:0.0:1.0:0.0	.	422;422	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	I	422	ENSP00000389714:T422I;ENSP00000362849:T422I	ENSP00000362849:T422I	T	-	2	0	CTNNA3	68196044	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	8.004000	0.88535	2.941000	0.99782	0.655000	0.94253	ACC		0.418	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		A	68526038	G	A	68526038	3	1	427	1	0	0	0	0	1	0	0	0	4014	1261	44	2	1462	2	CTNNA3	10	68526038	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	22412434	68526038	67008709	101	23479											
USP54	159195	genome.wustl.edu	37	10	75276830	75276830	+	Silent	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:75276830A>G	ENST00000339859.4	-	19	3454	c.3354T>C	c.(3352-3354)taT>taC	p.Y1118Y	USP54_ENST00000408019.1_Silent_p.Y1118Y|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000394811.2_Silent_p.Y206Y|USP54_ENST00000422491.2_Silent_p.Y300Y|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Silent_p.Y968Y|RP11-137L10.6_ENST00000595069.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1118					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTCTGGCCTATAGGTCTCCT	0.502																																					Colon(195;880 2046 8854 25025 38456)											0			10											98	97	98					10																	75276830		2203	4300	6503	74946836	SO:0001819	synonymous_variant	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3354T>C	10.37:g.75276830A>G			74946836	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	CCDS7329.2																																																																																				0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		G	75276830	A	G	75276830	2	3	427	1	0	0	0	0	0	0	0	1	17085	456	16	4		4	USP54	10	75276830	Silent	SNP	A	TCGA-61-1740-01A-01W-0639-09	6750792	75276830	60257917	102	23480											
KIAA0913	23053	genome.wustl.edu	37	10	75559896	75559904	+	In_Frame_Del	DEL	AGCCAGGGC	AGCCAGGGC	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	AGCCAGGGC	AGCCAGGGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:75559896_75559904delAGCCAGGGC	ENST00000605216.1	+	22	4995_5003	c.4778_4786delAGCCAGGGC	c.(4777-4788)gagccagggctt>gtt	p.1593_1596EPGL>V	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_In_Frame_Del_p.1598_1601EPGL>V|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_In_Frame_Del_p.1598_1601EPGL>V|ZSWIM8_ENST00000603114.1_In_Frame_Del_p.1560_1563EPGL>V|ZSWIM8_ENST00000604524.1_In_Frame_Del_p.1411_1414EPGL>V	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1593	Pro-rich.						zinc ion binding (GO:0008270)										TACCACACAGAGCCAGGGCTTCCACTGCC	0.589																																																0			10																																								75229910	SO:0001651	inframe_deletion	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4778_4786delAGCCAGGGC	10.37:g.75559896_75559904delAGCCAGGGC	ENSP00000474748:p.Glu1593_Leu1596delinsVal		75229902	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	In_Frame_Del	DEL	ENST00000605216.1	37																																																																																					0.589	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		-	75559904	AGCCAGGGC	-	75559896	7	5	427	1	0	1	0	1	0	0	0	0	8200	304	11	0	4879	0	KIAA0913	10	75559896	In_Frame_Del	DEL	AGCCAGGGC	TCGA-61-1740-01A-01W-0639-09	283066	75559896	59974851	103	23481											
PTEN	5728	genome.wustl.edu	37	10	89692883	89692883	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:89692883C>T	ENST00000371953.3	+	5	1724	c.367C>T	c.(367-369)Cac>Tac	p.H123Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	123	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in CWS1). {ECO:0000269|PubMed:10234502, ECO:0000269|PubMed:9259288}.|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.H123Y(5)|p.R55fs*1(5)|p.I122fs*2(3)|p.Y27fs*1(2)|p.H123D(1)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGCAATTCACTGTAAAGC	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	60	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(6)|Unknown(5)|Deletion - In frame(1)	prostate(16)|central_nervous_system(14)|endometrium(6)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	10	GRCh37	CM020755	PTEN	M							140	129	132					10																	89692883		2203	4300	6503	89682863	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.367C>T	10.37:g.89692883C>T	ENSP00000361021:p.His123Tyr		89682863	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903384	0.92035	.	.	ENSG00000171862	ENST00000371953	D	0.99903	-7.67	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.97874	4.095	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95932	0.8939	9	.	.	.	-8.7537	18.7776	0.91918	0.0:1.0:0.0:0.0	.	123	P60484	PTEN_HUMAN	Y	123	ENSP00000361021:H123Y	.	H	+	1	0	PTEN	89682863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	CAC		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692883	C	T	89692883	3	4	427	1	0	0	0	0	1	0	0	0	12741	826	29	2	385	2	PTEN	10	89692883	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	14132987	89692883	45841864	104	23482											
SLIT1	6585	genome.wustl.edu	37	10	98824589	98824589	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:98824589A>C	ENST00000266058.4	-	6	775	c.530T>G	c.(529-531)tTc>tGc	p.F177C	SLIT1_ENST00000371070.4_Missense_Mutation_p.F177C|SLIT1_ENST00000371041.3_Missense_Mutation_p.F177C|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	177					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGAGCACGGAAGGCCCCTTC	0.567																																																0			10											179	161	167					10																	98824589		2203	4300	6503	98814579	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.530T>G	10.37:g.98824589A>C	ENSP00000266058:p.Phe177Cys		98814579	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347155	0.82022	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.91760	0.5419	10	0.87932	D	0	.	14.3729	0.66854	1.0:0.0:0.0:0.0	.	177;177	E7EWQ8;O75093	.;SLIT1_HUMAN	C	177;177;153;177;160;153;177	ENSP00000266058:F177C;ENSP00000360109:F177C;ENSP00000315005:F160C;ENSP00000360080:F177C	ENSP00000266058:F177C	F	-	2	0	SLIT1	98814579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.087000	0.94110	2.051000	0.60960	0.402000	0.26972	TTC		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		C	98824589	A	C	98824589	3	2	427	1	0	0	0	0	1	0	0	0	14742	246	9	5	4202	5	SLIT1	10	98824589	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	9131706	98824589	36710158	105	23483											
OR52E8	390079	genome.wustl.edu	37	11	5878216	5878216	+	Silent	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:5878216T>A	ENST00000537935.1	-	1	748	c.717A>T	c.(715-717)cgA>cgT	p.R239R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCTTTGAGTCGAGCTTCCC	0.413																																																0			11											83	92	89					11																	5878216		2141	4296	6437	5834792	SO:0001819	synonymous_variant	390079			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.717A>T	11.37:g.5878216T>A			5834792	B9EH38	Silent	SNP	ENST00000537935.1	37	CCDS31400.1																																																																																				0.413	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		A	5878216	T	A	5878216	2	1	427	1	0	0	0	0	0	0	0	1	11118	1654	58	5		5	OR52E8	11	5878216	Silent	SNP	T	TCGA-61-1740-01A-01W-0639-09		5878216	129128300	106	23484											
HPX	3263	genome.wustl.edu	37	11	6461906	6461906	+	Silent	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:6461906C>G	ENST00000265983.3	-	2	238	c.138G>C	c.(136-138)gtG>gtC	p.V46V	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	46					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCTCACCAGTCACGTCTGGGT	0.433																																																0			11											136	134	135					11																	6461906		2201	4296	6497	6418482	SO:0001819	synonymous_variant	3263			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.138G>C	11.37:g.6461906C>G			6418482	B2R957	Silent	SNP	ENST00000265983.3	37	CCDS7763.1																																																																																				0.433	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		G	6461906	C	G	6461906	2	3	427	1	0	0	0	0	0	0	0	1	7346	813	29	3		3	HPX	11	6461906	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	583690	6461906	128544610	107	23485											
MRGPRX1	259249	genome.wustl.edu	37	11	18955883	18955883	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:18955883G>T	ENST00000302797.3	-	1	673	c.449C>A	c.(448-450)tCc>tAc	p.S150Y	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	150					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCGCAGCAGGGACAGGGCCCA	0.602																																																0			11											96	80	85					11																	18955883		2194	4286	6480	18912459	SO:0001583	missense	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.449C>A	11.37:g.18955883G>T	ENSP00000305766:p.Ser150Tyr		18912459	Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	13.84	2.356186	0.41700	.	.	ENSG00000170255	ENST00000302797	T	0.47869	0.83	2.28	0.13	0.14746	GPCR, rhodopsin-like superfamily (1);	0.387872	0.25117	N	0.033012	T	0.65428	0.2690	M	0.88181	2.935	0.21020	N	0.999809	D	0.89917	1.0	D	0.76071	0.987	T	0.54781	-0.8242	10	0.72032	D	0.01	.	4.7071	0.12855	0.1442:0.4358:0.4199:0.0	.	150	Q96LB2	MRGX1_HUMAN	Y	150	ENSP00000305766:S150Y	ENSP00000305766:S150Y	S	-	2	0	MRGPRX1	18912459	0.001000	0.12720	0.134000	0.22075	0.116000	0.19942	0.884000	0.28214	0.038000	0.15604	0.491000	0.48974	TCC		0.602	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		T	18955883	G	T	18955883	3	4	427	1	0	0	0	0	1	0	0	0	9766	1174	41	3	523	3	MRGPRX1	11	18955883	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	12493977	18955883	116050633	108	23486											
OR5F1	338674	genome.wustl.edu	37	11	55761772	55761772	+	Silent	SNP	G	G	A	rs573086848		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:55761772G>A	ENST00000278409.1	-	1	329	c.330C>T	c.(328-330)acC>acT	p.T110T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	110					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGATGCATTCGGTTGTCGCCA	0.468																																																0			11											83	82	82					11																	55761772		2201	4296	6497	55518348	SO:0001819	synonymous_variant	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.330C>T	11.37:g.55761772G>A			55518348	Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	CCDS31515.1																																																																																				0.468	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		A	55761772	G	A	55761772	2	1	427	1	0	0	0	0	0	0	0	1	11158	1103	39	1		1	OR5F1	11	55761772	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	36805889	55761772	79244744	109	23487											
OR8J3	81168	genome.wustl.edu	37	11	55904979	55904979	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:55904979G>A	ENST00000301529.1	-	1	215	c.216C>T	c.(214-216)ggC>ggT	p.G72G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CAGTAGAGTTGCCAAGATTGA	0.443																																																0			11											137	134	135					11																	55904979		2201	4296	6497	55661555	SO:0001819	synonymous_variant	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.216C>T	11.37:g.55904979G>A			55661555	Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	CCDS31520.1																																																																																				0.443	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		A	55904979	G	A	55904979	2	1	427	1	0	0	0	0	0	0	0	1	11242	1306	46	2		2	OR8J3	11	55904979	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	143207	55904979	79101537	110	23488											
OR8H1	219469	genome.wustl.edu	37	11	56057611	56057611	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:56057611A>T	ENST00000313022.2	-	1	955	c.928T>A	c.(928-930)Tcc>Acc	p.S310T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AATTACCTGGAGTCCTGTCTT	0.333																																																0			11											82	94	90					11																	56057611		2201	4294	6495	55814187	SO:0001583	missense	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.928T>A	11.37:g.56057611A>T	ENSP00000323595:p.Ser310Thr		55814187	B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	A	7.808	0.715113	0.15306	.	.	ENSG00000181693	ENST00000313022	T	0.00488	7.04	2.95	-3.35	0.04928	.	1.333530	0.05097	N	0.486245	T	0.00300	0.0009	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.41034	-0.9531	10	0.52906	T	0.07	.	2.7657	0.05319	0.4122:0.0:0.2371:0.3507	.	310	Q8NGG4	OR8H1_HUMAN	T	310	ENSP00000323595:S310T	ENSP00000323595:S310T	S	-	1	0	OR8H1	55814187	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.682000	0.25335	-0.702000	0.05056	0.366000	0.22137	TCC		0.333	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		T	56057611	A	T	56057611	3	4	427	1	0	0	0	0	1	0	0	0	11237	304	11	5	9	5	OR8H1	11	56057611	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	152632	56057611	78948905	111	23489											
RCOR2	283248	genome.wustl.edu	37	11	63681759	63681759	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:63681759G>A	ENST00000301459.4	-	7	1036	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	217					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCAGGATCGGGCTCTCCCTCA	0.637																																																0			11											64	53	57					11																	63681759		2201	4297	6498	63438335	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.649C>T	11.37:g.63681759G>A	ENSP00000301459:p.Pro217Ser		63438335	Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	G	6.952	0.545428	0.13312	.	.	ENSG00000167771	ENST00000301459	T	0.39592	1.07	4.73	4.73	0.59995	.	0.308552	0.31415	N	0.007681	T	0.08846	0.0219	N	0.00151	-1.98	0.28145	N	0.929639	B	0.17465	0.022	B	0.19666	0.026	T	0.30621	-0.9972	10	0.07990	T	0.79	.	6.4702	0.22003	0.093:0.0:0.7246:0.1823	.	217	Q8IZ40	RCOR2_HUMAN	S	217	ENSP00000301459:P217S	ENSP00000301459:P217S	P	-	1	0	RCOR2	63438335	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	3.295000	0.51794	2.333000	0.79357	0.561000	0.74099	CCC		0.637	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		A	63681759	G	A	63681759	3	1	427	1	0	0	0	0	1	0	0	0	13186	1203	42	2	946	2	RCOR2	11	63681759	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	7624148	63681759	71324757	112	23490											
NPAS4	266743	genome.wustl.edu	37	11	66191656	66191656	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:66191656G>T	ENST00000311034.2	+	7	1471	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	432					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CATCAGCCAGGAGGCTGTGCC	0.557																																																0			11											183	179	180					11																	66191656		2200	4295	6495	65948232	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1295G>T	11.37:g.66191656G>T	ENSP00000311196:p.Gly432Val		65948232	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938459	0.52972	.	.	ENSG00000174576	ENST00000311034	T	0.51817	0.69	4.88	4.88	0.63580	.	0.000000	0.49305	D	0.000150	T	0.48205	0.1487	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.49952	-0.8884	10	0.46703	T	0.11	-6.5085	13.3947	0.60843	0.0:0.0:1.0:0.0	.	432	Q8IUM7	NPAS4_HUMAN	V	432	ENSP00000311196:G432V	ENSP00000311196:G432V	G	+	2	0	NPAS4	65948232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.875000	0.56108	2.538000	0.85594	0.563000	0.77884	GGA		0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		T	66191656	G	T	66191656	3	4	427	1	0	0	0	0	1	0	0	0	10565	1174	41	3	1321	3	NPAS4	11	66191656	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	2509897	66191656	68814860	113	23491											
NDUFV1	4723	genome.wustl.edu	37	11	67377004	67377004	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:67377004C>G	ENST00000322776.6	+	4	561	c.408C>G	c.(406-408)caC>caG	p.H136Q	RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000415352.2_Missense_Mutation_p.H129Q|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H127Q|NDUFV1_ENST00000526169.1_3'UTR|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000532303.1_Missense_Mutation_p.H35Q	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	136					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						ATGATCCTCACAAGCTGCTGG	0.637																																																0			11											74	96	88					11																	67377004		2200	4294	6494	67133580	SO:0001583	missense	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.408C>G	11.37:g.67377004C>G	ENSP00000322450:p.His136Gln		67133580	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839409	0.71488	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	D;D;D;D;D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	4.17	4.17	0.49024	NADH:ubiquinone oxidoreductase, 51kDa subunit (1);	0.054070	0.64402	D	0.000001	D	0.96457	0.8844	M	0.93106	3.38	0.54753	D	0.999983	P;P;P;P	0.50272	0.783;0.91;0.533;0.933	P;P;P;P	0.61592	0.633;0.559;0.577;0.891	D	0.97283	0.9919	10	0.62326	D	0.03	-15.3296	15.3019	0.73958	0.0:1.0:0.0:0.0	.	35;129;127;136	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	Q	136;35;35;127;35;129;129;124;97;35	ENSP00000322450:H136Q;ENSP00000432015:H35Q;ENSP00000435202:H35Q;ENSP00000436766:H127Q;ENSP00000431751:H35Q;ENSP00000395368:H129Q;ENSP00000437267:H129Q;ENSP00000434438:H124Q;ENSP00000436936:H97Q;ENSP00000434581:H35Q	ENSP00000322450:H136Q	H	+	3	2	NDUFV1	67133580	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.069000	0.50026	2.174000	0.68829	0.555000	0.69702	CAC		0.637	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		G	67377004	C	G	67377004	3	3	427	1	0	0	0	0	1	0	0	0	10299	477	17	3	422	3	NDUFV1	11	67377004	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	1185348	67377004	67629512	114	23492											
INPPL1	3636	genome.wustl.edu	37	11	71945599	71945599	+	Silent	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:71945599C>G	ENST00000298229.2	+	21	2559	c.2355C>G	c.(2353-2355)gcC>gcG	p.A785A	INPPL1_ENST00000538751.1_Silent_p.A543A|INPPL1_ENST00000541756.1_Silent_p.A543A	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	785					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGAATGATGCCCAGAGCAGTG	0.577																																																0			11											85	70	75					11																	71945599		2200	4293	6493	71623247	SO:0001819	synonymous_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2355C>G	11.37:g.71945599C>G			71623247	B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	CCDS8213.1																																																																																				0.577	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		G	71945599	C	G	71945599	2	3	427	1	0	0	0	0	0	0	0	1	7761	610	22	3		3	INPPL1	11	71945599	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	4568595	71945599	63060917	115	23493											
PGM2L1	283209	genome.wustl.edu	37	11	74062441	74062441	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:74062441T>C	ENST00000298198.4	-	6	1047	c.736A>G	c.(736-738)Atc>Gtc	p.I246V		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	246					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TAAAAACAGATCTTTTTCAGA	0.373																																																0			11											64	65	65					11																	74062441		2200	4293	6493	73740089	SO:0001583	missense	283209			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.736A>G	11.37:g.74062441T>C	ENSP00000298198:p.Ile246Val		73740089	Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681634	0.29872	.	.	ENSG00000165434	ENST00000298198	T	0.62232	0.04	5.25	4.08	0.47627	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.060369	0.64402	D	0.000003	T	0.33731	0.0873	N	0.04787	-0.16	0.29638	N	0.844938	B	0.15719	0.014	B	0.14578	0.011	T	0.20371	-1.0277	10	0.13470	T	0.59	-11.0077	6.1049	0.20067	0.1628:0.0:0.1696:0.6676	.	246	Q6PCE3	PGM2L_HUMAN	V	246	ENSP00000298198:I246V	ENSP00000298198:I246V	I	-	1	0	PGM2L1	73740089	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.082000	0.41605	0.898000	0.36418	0.533000	0.62120	ATC		0.373	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		C	74062441	T	C	74062441	3	2	427	1	0	0	0	0	1	0	0	0	11799	1435	50	4	1168	4	PGM2L1	11	74062441	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	2116842	74062441	60944075	116	23494											
ODZ4	26011	genome.wustl.edu	37	11	78381103	78381103	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:78381103G>C	ENST00000278550.7	-	32	6749	c.6287C>G	c.(6286-6288)gCt>gGt	p.A2096G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2096					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GTTGATCACAGCCTGCATGCT	0.498																																																0			11											67	71	70					11																	78381103		2098	4217	6315	78058751	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6287C>G	11.37:g.78381103G>C	ENSP00000278550:p.Ala2096Gly		78058751	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449844	0.43531	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89485	-2.52;0.95	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	L	0.31752	0.955	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	D	0.89536	0.3789	9	.	.	.	.	18.1852	0.89790	0.0:0.0:1.0:0.0	.	2096	Q6N022	TEN4_HUMAN	G	2096;560	ENSP00000278550:A2096G;ENSP00000431711:A560G	.	A	-	2	0	ODZ4	78058751	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.536000	0.73842	2.597000	0.87782	0.655000	0.94253	GCT		0.498	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			C	78381103	G	C	78381103	3	2	427	1	0	0	0	0	1	0	0	0	10837	971	34	3	2034	3	ODZ4	11	78381103	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	4318662	78381103	56625413	117	23495											
CNTN5	53942	genome.wustl.edu	37	11	99715986	99715986	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:99715986A>T	ENST00000524871.1	+	6	859	c.569A>T	c.(568-570)cAg>cTg	p.Q190L	CNTN5_ENST00000279463.3_Missense_Mutation_p.Q190L|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q116L|CNTN5_ENST00000528682.1_Missense_Mutation_p.Q190L|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q190L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	190	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTACACTGCAGTTTGCCTGT	0.323																																																0			11											119	111	113					11																	99715986		1815	4081	5896	99221196	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.569A>T	11.37:g.99715986A>T	ENSP00000435637:p.Gln190Leu		99221196	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.588685	0.46110	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.175045	0.51477	D	0.000084	T	0.39489	0.1080	L	0.56769	1.78	0.58432	D	0.999999	B;B;B	0.27416	0.178;0.039;0.178	B;B;B	0.28849	0.095;0.016;0.037	T	0.29088	-1.0023	10	0.72032	D	0.01	.	15.3151	0.74069	1.0:0.0:0.0:0.0	.	190;116;190	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	L	190;190;190;116;190	ENSP00000433575:Q190L;ENSP00000436185:Q190L;ENSP00000435637:Q190L;ENSP00000393229:Q116L;ENSP00000279463:Q190L	ENSP00000279463:Q190L	Q	+	2	0	CNTN5	99221196	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.977000	0.76141	2.216000	0.71823	0.528000	0.53228	CAG		0.323	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		T	99715986	A	T	99715986	3	4	427	1	0	0	0	0	1	0	0	0	3644	188	7	5	583	5	CNTN5	11	99715986	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	21334883	99715986	35290530	118	23496											
ALKBH8	91801	genome.wustl.edu	37	11	107423910	107423910	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:107423910G>T	ENST00000428149.2	-	5	670	c.519C>A	c.(517-519)caC>caA	p.H173Q	ALKBH8_ENST00000417449.2_Missense_Mutation_p.H176Q|ALKBH8_ENST00000429370.1_Missense_Mutation_p.H173Q|ALKBH8_ENST00000389568.3_Missense_Mutation_p.H173Q|ALKBH8_ENST00000530933.1_5'Flank	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	173					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTACTCTTCTGTGTTTTAAGG	0.308																																																0			11											123	112	116					11																	107423910		2200	4293	6493	106929120	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.519C>A	11.37:g.107423910G>T	ENSP00000415885:p.His173Gln		106929120	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409856	0.62399	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.29142	2.99;1.58;2.99;2.99	5.52	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	M	0.71206	2.165	0.58432	D	0.999992	D	0.63046	0.992	D	0.63793	0.918	T	0.32640	-0.9899	10	0.38643	T	0.18	-3.4691	9.6146	0.39683	0.3956:0.0:0.6044:0.0	.	173	Q96BT7	ALKB8_HUMAN	Q	173;173;173;176	ENSP00000415885:H173Q;ENSP00000391225:H173Q;ENSP00000374219:H173Q;ENSP00000397673:H176Q	ENSP00000260318:H173Q	H	-	3	2	ALKBH8	106929120	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.635000	0.37134	0.298000	0.22638	0.591000	0.81541	CAC		0.308	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		T	107423910	G	T	107423910	3	4	427	1	0	0	0	0	1	0	0	0	533	1368	48	3	1507	3	ALKBH8	11	107423910	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	7707924	107423910	27582606	119	23497											
BCL9L	283149	genome.wustl.edu	37	11	118772370	118772370	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:118772370G>C	ENST00000334801.3	-	6	3046	c.2082C>G	c.(2080-2082)ccC>ccG	p.P694P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	694	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCATGCCCAGGGGGCGCTGCA	0.657																																																0			11											42	43	43					11																	118772370		2198	4293	6491	118277580	SO:0001819	synonymous_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2082C>G	11.37:g.118772370G>C			118277580	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	CCDS8403.1																																																																																				0.657	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		C	118772370	G	C	118772370	2	2	427	1	0	0	0	0	0	0	0	1	1382	1219	43	3		3	BCL9L	11	118772370	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	11348460	118772370	16234146	120	23498											
USP2	9099	genome.wustl.edu	37	11	119228300	119228300	+	Splice_Site	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:119228300T>C	ENST00000260187.2	-	11	1796	c.1502A>G	c.(1501-1503)cAt>cGt	p.H501R	USP2_ENST00000455332.2_Splice_Site_p.H258R|USP2_ENST00000525735.1_Splice_Site_p.H292R	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	501	Necessary for interaction with MDM4.|USP.			H -> R (in Ref. 3; BAB71388). {ECO:0000305}.	cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ccgctTCAGATCTGGCATTGA	0.483																																																0			11											71	74	73					11																	119228300		2199	4295	6494	118733510	SO:0001630	splice_region_variant	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1502-1A>G	11.37:g.119228300T>C			118733510	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898364	0.72639	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.03801	3.8;3.8;3.8	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.098369	0.64402	D	0.000001	T	0.37544	0.1007	H	0.99026	4.405	0.80722	D	1	B;D;D	0.76494	0.295;0.998;0.999	B;D;D	0.68483	0.171;0.958;0.928	T	0.62501	-0.6841	10	0.87932	D	0	.	14.949	0.71057	0.0:0.0:0.0:1.0	.	258;501;292	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	R	258;501;248;292	ENSP00000407842:H258R;ENSP00000260187:H501R;ENSP00000436952:H292R	ENSP00000260187:H501R	H	-	2	0	USP2	118733510	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.829000	0.86735	2.135000	0.66039	0.533000	0.62120	CAT		0.483	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997	Missense_Mutation	C	119228300	T	C	119228300	5	2	427	1	0	0	0	0	0	0	1	0	17051	1449	50	4	327	4	USP2	11	119228300	Splice_Site	SNP	T	TCGA-61-1740-01A-01W-0639-09	455930	119228300	15778216	121	23499											
PUS3	83480	genome.wustl.edu	37	11	125765802	125765802	+	Splice_Site	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:125765802C>G	ENST00000530811.1	-	1	423	c.378G>C	c.(376-378)caG>caC	p.Q126H	HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Splice_Site_p.Q126H|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	126					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TGGCCCTTACCTGTCCAAAGG	0.413																																																0			11											263	246	252					11																	125765802		2201	4299	6500	125271012	SO:0001630	splice_region_variant	83480			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.378+1G>C	11.37:g.125765802C>G			125271012	B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644346	0.67244	.	.	ENSG00000110060	ENST00000227474;ENST00000530811;ENST00000534158	T;T;T	0.60040	0.22;0.22;0.22	6.17	6.17	0.99709	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	D	0.86087	0.5849	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89592	0.3828	9	.	.	.	-9.0028	20.8794	0.99867	0.0:1.0:0.0:0.0	.	126	Q9BZE2	PUS3_HUMAN	H	126	ENSP00000227474:Q126H;ENSP00000432386:Q126H;ENSP00000432272:Q126H	.	Q	-	3	2	PUS3	125271012	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.357000	0.59436	2.941000	0.99782	0.655000	0.94253	CAG		0.413	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307	Missense_Mutation	G	125765802	C	G	125765802	5	3	427	1	0	0	0	0	0	0	1	0	12835	695	24	3	1079	3	PUS3	11	125765802	Splice_Site	SNP	C	TCGA-61-1740-01A-01W-0639-09	6537502	125765802	9240714	122	23500											
ITPR2	3709	genome.wustl.edu	37	12	26812160	26812160	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:26812160G>C	ENST00000381340.3	-	16	2188	c.1772C>G	c.(1771-1773)gCa>gGa	p.A591G		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	591					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGTATCTTCTGCCAAAATATC	0.378																																																0			12											186	159	167					12																	26812160		1853	4104	5957	26703427	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1772C>G	12.37:g.26812160G>C	ENSP00000370744:p.Ala591Gly		26703427	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976030	0.92982	.	.	ENSG00000123104	ENST00000381340	D	0.91068	-2.78	4.69	4.69	0.59074	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.92833	3.35	0.80722	D	1	B	0.33073	0.396	P	0.46419	0.516	D	0.95398	0.8487	10	0.49607	T	0.09	.	17.84	0.88712	0.0:0.0:1.0:0.0	.	591	Q14571	ITPR2_HUMAN	G	591	ENSP00000370744:A591G	ENSP00000370744:A591G	A	-	2	0	ITPR2	26703427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.640000	0.98453	2.433000	0.82419	0.585000	0.79938	GCA		0.378	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26812160	G	C	26812160	3	2	427	1	0	0	0	0	1	0	0	0	7921	1319	46	3	6501	3	ITPR2	12	26812160	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09		26812160	107039735	123	23501											
SLC38A4	55089	genome.wustl.edu	37	12	47163126	47163126	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:47163126G>T	ENST00000447411.1	-	14	1591	c.1385C>A	c.(1384-1386)gCa>gAa	p.A462E	SLC38A4_ENST00000266579.4_Missense_Mutation_p.A462E	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	462					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATTATTAAGTGCAATAAGCAC	0.393																																																0			12											151	139	143					12																	47163126		2203	4300	6503	45449393	SO:0001583	missense	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1385C>A	12.37:g.47163126G>T	ENSP00000389843:p.Ala462Glu		45449393	A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496179	0.44352	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02498	4.27;4.27	5.66	2.86	0.33363	.	0.285161	0.38436	N	0.001699	T	0.10337	0.0253	M	0.75777	2.31	0.34531	D	0.70925	P	0.37276	0.589	P	0.54100	0.742	T	0.02115	-1.1211	10	0.56958	D	0.05	-1.5269	8.4611	0.32927	0.3579:0.0:0.6421:0.0	.	462	Q969I6	S38A4_HUMAN	E	462	ENSP00000389843:A462E;ENSP00000266579:A462E	ENSP00000266579:A462E	A	-	2	0	SLC38A4	45449393	0.012000	0.17670	0.001000	0.08648	0.853000	0.48598	0.962000	0.29280	0.342000	0.23796	0.462000	0.41574	GCA		0.393	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			T	47163126	G	T	47163126	3	4	427	1	0	0	0	0	1	0	0	0	14609	1319	46	3	270	3	SLC38A4	12	47163126	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	20350966	47163126	86688769	124	23502											
PFDN5	5204	genome.wustl.edu	37	12	53689386	53689386	+	Missense_Mutation	SNP	T	T	G	rs199718276		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:53689386T>G	ENST00000551018.1	+	1	312	c.35T>G	c.(34-36)cTg>cGg	p.L12R	PFDN5_ENST00000351500.3_Missense_Mutation_p.L12R|PFDN5_ENST00000550846.1_Missense_Mutation_p.L12R|PFDN5_ENST00000334478.4_Missense_Mutation_p.L12R	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	12					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						GAGCTGAATCTGCCGCAGCTA	0.587																																																0			12											109	106	107					12																	53689386		2203	4300	6503	51975653	SO:0001583	missense	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"prefoldin 5"			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.35T>G	12.37:g.53689386T>G	ENSP00000447942:p.Leu12Arg		51975653	A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	ENST00000551018.1	37	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854221	0.91355	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	D;T;D	0.82344	-1.6;-1.26;-1.6	5.73	5.73	0.89815	Prefoldin (1);	0.000000	0.64402	D	0.000001	D	0.91181	0.7222	M	0.84948	2.725	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.68039	0.955;0.915	D	0.92451	0.5970	10	0.87932	D	0	.	14.2815	0.66216	0.0:0.0:0.0:1.0	.	12;12	Q9C083;Q99471	.;PFD5_HUMAN	R	12	ENSP00000447942:L12R;ENSP00000266964:L12R;ENSP00000334188:L12R	ENSP00000243040:L12R	L	+	2	0	PFDN5	51975653	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.030000	0.70903	2.324000	0.78689	0.533000	0.62120	CTG		0.587	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2			G	53689386	T	G	53689386	3	3	427	1	0	0	0	0	1	0	0	0	11758	1580	55	5	37	5	PFDN5	12	53689386	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	6526260	53689386	80162509	125	23503											
LRP1	4035	genome.wustl.edu	37	12	57594908	57594908	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:57594908C>T	ENST00000243077.3	+	65	10783	c.10317C>T	c.(10315-10317)tgC>tgT	p.C3439C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3439	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGACAACTGCGGAGATGGGG	0.602																																																0			12											214	183	194					12																	57594908		2203	4300	6503	55881175	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10317C>T	12.37:g.57594908C>T			55881175	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57594908	C	T	57594908	2	4	427	1	0	0	0	0	0	0	0	1	8951	776	27	1		1	LRP1	12	57594908	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	3905522	57594908	76256987	126	23504											
TRPV4	59341	genome.wustl.edu	37	12	110234388	110234388	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:110234388T>C	ENST00000418703.2	-	6	1368	c.1274A>G	c.(1273-1275)gAc>gGc	p.D425G	TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.D425G|TRPV4_ENST00000541794.1_Missense_Mutation_p.D378G|TRPV4_ENST00000536838.1_Missense_Mutation_p.D391G|TRPV4_ENST00000392719.2_Missense_Mutation_p.D378G|TRPV4_ENST00000346520.2_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	425					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCACACGTGTCCAGGGAGGA	0.612																																																0			12											127	102	111					12																	110234388		2203	4300	6503	108718771	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1274A>G	12.37:g.110234388T>C	ENSP00000406191:p.Asp425Gly		108718771	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852670	0.71719	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000541794;ENST00000536838	D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81	5.06	5.06	0.68205	.	0.045494	0.85682	D	0.000000	D	0.95768	0.8623	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.96495	0.9367	10	0.87932	D	0	-23.7405	14.0184	0.64539	0.0:0.0:0.0:1.0	.	425;378;391	Q9HBA0;Q9HBA0-4;Q9HBA0-5	TRPV4_HUMAN;.;.	G	425;425;378;378;391	ENSP00000406191:D425G;ENSP00000261740:D425G;ENSP00000376480:D378G;ENSP00000442167:D378G;ENSP00000444336:D391G	ENSP00000261740:D425G	D	-	2	0	TRPV4	108718771	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.920000	0.87521	1.902000	0.55061	0.460000	0.39030	GAC		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		C	110234388	T	C	110234388	3	2	427	1	0	0	0	0	1	0	0	0	16598	1667	58	4	1381	4	TRPV4	12	110234388	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	52639480	110234388	23617507	127	23505											
NAA25	80018	genome.wustl.edu	37	12	112471124	112471134	+	Frame_Shift_Del	DEL	ATTGGAAATTA	ATTGGAAATTA	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	ATTGGAAATTA	ATTGGAAATTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:112471124_112471134delATTGGAAATTA	ENST00000261745.4	-	23	2947_2957	c.2699_2709delTAATTTCCAAT	c.(2698-2709)ttaatttccaatfs	p.LISN900fs		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	900						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GATCCACAACATTGGAAATTAAAGTCTGAAG	0.346																																																0			12																																								110955517	SO:0001589	frameshift_variant	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2699_2709delTAATTTCCAAT	12.37:g.112471124_112471134delATTGGAAATTA	ENSP00000261745:p.Leu900fs		110955507	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Frame_Shift_Del	DEL	ENST00000261745.4	37	CCDS9159.1																																																																																				0.346	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		-	112471134	ATTGGAAATTA	-	112471124	7	5	427	1	0	1	0	1	0	0	0	0	10121	214	8	0	217	0	NAA25	12	112471124	Frame_Shift_Del	DEL	ATTGGAAATTA	TCGA-61-1740-01A-01W-0639-09	2236736	112471124	21380771	128	23506											
HNF1A	6927	genome.wustl.edu	37	12	121434120	121434120	+	Silent	SNP	C	C	T	rs549471872		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:121434120C>T	ENST00000257555.6	+	5	1237	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	HNF1A_ENST00000541395.1_Silent_p.S337S|HNF1A_ENST00000402929.1_Silent_p.S337S|HNF1A_ENST00000400024.2_Silent_p.S337S|HNF1A_ENST00000544413.1_Silent_p.S337S|HNF1A_ENST00000543427.1_Silent_p.S220S|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	337					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCAAGCAGCGGCGGTCCCT	0.622									Hepatic Adenoma, Familial Clustering of				c|||	1	0.000199681	8e-04	0	5008	,	,		18990	0		0	False		,,,				2504	0															0			12											152	112	126					12																	121434120		2203	4300	6503	119918503	SO:0001819	synonymous_variant	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1011C>T	12.37:g.121434120C>T			119918503	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	CCDS9209.1																																																																																				0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		T	121434120	C	T	121434120	2	4	427	1	0	0	0	0	0	0	0	1	7251	767	27	1		1	HNF1A	12	121434120	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	8962996	121434120	12417775	129	23507											
PARP4	143	genome.wustl.edu	37	13	25026706	25026706	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr13:25026706G>C	ENST00000381989.3	-	24	2957	c.2852C>G	c.(2851-2853)aCa>aGa	p.T951R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	951	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCAGAAGTCTGTGTTCCCCAT	0.488																																																0			13											137	134	135					13																	25026706		2203	4300	6503	23924706	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2852C>G	13.37:g.25026706G>C	ENSP00000371419:p.Thr951Arg		23924706	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349129	0.82132	.	.	ENSG00000102699	ENST00000381989	T	0.38887	1.11	5.29	5.29	0.74685	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.88906	2.99	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.76002	-0.3118	10	0.87932	D	0	-19.6041	16.5315	0.84361	0.0:0.0:1.0:0.0	.	951	Q9UKK3	PARP4_HUMAN	R	951	ENSP00000371419:T951R	ENSP00000371419:T951R	T	-	2	0	PARP4	23924706	1.000000	0.71417	0.993000	0.49108	0.833000	0.47200	7.379000	0.79691	2.778000	0.95560	0.638000	0.83543	ACA		0.488	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		C	25026706	G	C	25026706	3	2	427	1	0	0	0	0	1	0	0	0	11463	1377	48	3	2366	3	PARP4	13	25026706	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09		25026706	90143172	130	23508											
FRY	10129	genome.wustl.edu	37	13	32731426	32731426	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr13:32731426C>T	ENST00000380250.3	+	16	2164	c.1668C>T	c.(1666-1668)taC>taT	p.Y556Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	556						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTTATATTACTCTCAAGTAC	0.318																																																0			13											107	99	101					13																	32731426		1852	4099	5951	31629426	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1668C>T	13.37:g.32731426C>T			31629426	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																				0.318	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32731426	C	T	32731426	2	4	427	1	0	0	0	0	0	0	0	1	6063	576	20	2		2	FRY	13	32731426	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	7704720	32731426	82438452	131	23509											
C14orf135	64430	genome.wustl.edu	37	14	60591865	60591865	+	Silent	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr14:60591865T>A	ENST00000406854.1	+	9	3530	c.2976T>A	c.(2974-2976)ccT>ccA	p.P992P	PCNXL4_ENST00000535349.1_Silent_p.P199P|PCNXL4_ENST00000317623.4_Silent_p.P758P|PCNXL4_ENST00000404681.2_Silent_p.P992P|PCNXL4_ENST00000406949.1_Silent_p.P758P			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	992						integral component of membrane (GO:0016021)											CTCCTAGTCCTGGTCATATAT	0.368																																																0			14											59	60	60					14																	60591865		2203	4300	6503	59661618	SO:0001819	synonymous_variant	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2976T>A	14.37:g.60591865T>A			59661618	A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37																																																																																					0.368	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		A	60591865	T	A	60591865	2	1	427	1	0	0	0	0	0	0	0	1	1745	1567	55	5		5	C14orf135	14	60591865	Silent	SNP	T	TCGA-61-1740-01A-01W-0639-09		60591865	46757675	132	23510											
ADCK1	57143	genome.wustl.edu	37	14	78365548	78365548	+	Missense_Mutation	SNP	G	G	T	rs143343441		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr14:78365548G>T	ENST00000238561.5	+	6	787	c.688G>T	c.(688-690)Ggg>Tgg	p.G230W	ADCK1_ENST00000341211.5_Missense_Mutation_p.G162W	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	237	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCTCAATGAAGGGAGGAATGC	0.502																																																0			14											178	155	163					14																	78365548		2203	4300	6503	77435301	SO:0001583	missense	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.688G>T	14.37:g.78365548G>T	ENSP00000238561:p.Gly230Trp		77435301	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678130	0.88542	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.57595	0.39;0.39;0.39	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88718	0.3227	10	0.87932	D	0	-18.9456	19.2381	0.93869	0.0:0.0:1.0:0.0	.	162;230	Q9UIE6;Q86TW2-2	.;.	W	230;230;162	ENSP00000238561:G230W;ENSP00000451549:G230W;ENSP00000339663:G162W	ENSP00000238561:G230W	G	+	1	0	ADCK1	77435301	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	9.768000	0.98965	2.539000	0.85634	0.591000	0.81541	GGG		0.502	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		T	78365548	G	T	78365548	3	4	427	1	0	0	0	0	1	0	0	0	288	1000	35	3	706	3	ADCK1	14	78365548	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	17773683	78365548	28983992	133	23511											
C14orf145	145508	genome.wustl.edu	37	14	81251440	81251440	+	Silent	SNP	T	T	C	rs200408578		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr14:81251440T>C	ENST00000555265.1	-	15	2385	c.2010A>G	c.(2008-2010)gcA>gcG	p.A670A	CEP128_ENST00000281129.3_Silent_p.A670A			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	670						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						ATTTTGCCTGTGCAGTGAGGT	0.468																																																0			14											241	191	208					14																	81251440		2203	4300	6503	80321193	SO:0001819	synonymous_variant	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2010A>G	14.37:g.81251440T>C			80321193	B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	CCDS32130.1																																																																																				0.468	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		C	81251440	T	C	81251440	2	2	427	1	0	0	0	0	0	0	0	1	1749	1683	59	4		4	C14orf145	14	81251440	Silent	SNP	T	TCGA-61-1740-01A-01W-0639-09	2885892	81251440	26098100	134	23512											
HERC2	8924	genome.wustl.edu	37	15	28508281	28508281	+	Silent	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr15:28508281C>G	ENST00000261609.7	-	15	2013	c.1905G>C	c.(1903-1905)ggG>ggC	p.G635G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCCCAATTTCCCATAGTCAC	0.403																																																0			15											134	117	123					15																	28508281		2203	4300	6503	26181876	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1905G>C	15.37:g.28508281C>G			26181876		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.403	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28508281	C	G	28508281	2	3	427	1	0	0	0	0	0	0	0	1	7058	842	30	3		3	HERC2	15	28508281	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09		28508281	74023111	135	23513											
NOX5	79400	genome.wustl.edu	37	15	69327696	69327706	+	Frame_Shift_Del	DEL	GCTGATGCTCA	GCTGATGCTCA	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	GCTGATGCTCA	GCTGATGCTCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr15:69327696_69327706delGCTGATGCTCA	ENST00000388866.3	+	6	899_909	c.858_868delGCTGATGCTCA	c.(856-870)gtgctgatgctcagafs	p.LMLR287fs	NOX5_ENST00000448182.3_Frame_Shift_Del_p.LMLR241fs|NOX5_ENST00000455873.3_Frame_Shift_Del_p.LMLR252fs|NOX5_ENST00000260364.5_Frame_Shift_Del_p.LMLR269fs|NOX5_ENST00000530406.2_Frame_Shift_Del_p.LMLR259fs|RP11-809H16.4_ENST00000559495.1_RNA	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	287					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGGCCAGGTGCTGATGCTCAGACGCTGCCT	0.611																																																0			15																																								67114760	SO:0001589	frameshift_variant	79400			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.858_868delGCTGATGCTCA	15.37:g.69327696_69327706delGCTGATGCTCA	ENSP00000373518:p.Leu287fs		67114750	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Frame_Shift_Del	DEL	ENST00000388866.3	37	CCDS32276.2																																																																																				0.611	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		-	69327706	GCTGATGCTCA	-	69327696	7	5	427	1	0	1	0	1	0	0	0	0	10559	1306	46	0	913	0	NOX5	15	69327696	Frame_Shift_Del	DEL	GCTGATGCTCA	TCGA-61-1740-01A-01W-0639-09	40819415	69327696	33203696	136	23514											
IL16	3603	genome.wustl.edu	37	15	81561966	81561966	+	Missense_Mutation	SNP	G	G	A	rs376544346		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr15:81561966G>A	ENST00000302987.4	+	4	652	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	IL16_ENST00000394660.2_Missense_Mutation_p.V218M			Q14005	IL16_HUMAN	interleukin 16	218	Interaction with GRIN2A.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTCCAACATCGTGCTGATGAA	0.592													G|||	1	0.000199681	0	0	5008	,	,		18978	0		0.001	False		,,,				2504	0															0			15						G	MET/VAL,MET/VAL	0,3922		0,0,1961	118	120	119		652,652	5	1	15		119	1,8313		0,1,4156	no	missense,missense	IL16	NM_001172128.1,NM_172217.3	21,21	0,1,6117	AA,AG,GG		0.012,0.0,0.0082	probably-damaging,probably-damaging	218/1332,218/1333	81561966	1,12235	1961	4157	6118	79349021	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.652G>A	15.37:g.81561966G>A	ENSP00000302935:p.Val218Met		79349021	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609778	0.87258	0.0	1.2E-4	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.28069	1.63;1.63	4.98	4.98	0.66077	PDZ/DHR/GLGF (3);	0.000000	0.39909	N	0.001232	T	0.55940	0.1952	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58317	-0.7657	10	0.66056	D	0.02	.	18.4544	0.90714	0.0:0.0:1.0:0.0	.	218;218	Q14005;Q14005-2	IL16_HUMAN;.	M	218;218;50;218	ENSP00000378155:V218M;ENSP00000302935:V218M	ENSP00000302935:V218M	V	+	1	0	IL16	79349021	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.380000	0.90149	2.599000	0.87857	0.561000	0.74099	GTG		0.592	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		A	81561966	G	A	81561966	3	1	427	1	0	0	0	0	1	0	0	0	7633	1145	40	1	666	1	IL16	15	81561966	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	12234270	81561966	20969426	137	23515											
ABCA3	21	genome.wustl.edu	37	16	2373600	2373600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:2373600C>T	ENST00000301732.5	-	7	1237	c.537G>A	c.(535-537)tgG>tgA	p.W179*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.W179*|ABCA3_ENST00000567910.1_Nonsense_Mutation_p.W179*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	179					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AAGTAGTGTGCCAGCCTTCTG	0.502																																																0			16											281	307	298					16																	2373600		2198	4300	6498	2313601	SO:0001587	stop_gained	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.537G>A	16.37:g.2373600C>T	ENSP00000301732:p.Trp179*		2313601	B2RU09|Q54A95|Q6P5P9|Q92473	Nonsense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	42	9.717737	0.99247	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9832	0.89147	0.0:1.0:0.0:0.0	.	.	.	.	X	179;241	.	ENSP00000301732:W179X	W	-	3	0	ABCA3	2313601	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.024000	0.76443	2.824000	0.97209	0.655000	0.94253	TGG		0.502	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		T	2373600	C	T	2373600	4	4	427	1	0	0	0	0	0	1	0	0	33	740	26	2	4685	2	ABCA3	16	2373600	Nonsense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09		2373600	87981153	138	23516											
CREBBP	1387	genome.wustl.edu	37	16	3795268	3795281	+	Splice_Site	DEL	AACAACTCACCCTG	AACAACTCACCCTG	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	AACAACTCACCCTG	AACAACTCACCCTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:3795268_3795281delAACAACTCACCCTG	ENST00000262367.5	-	22	4720_4724	c.3911_3915delCAGGGTGAGTTGTT	c.(3910-3915)tcaggg>t	p.SG1304fs	CREBBP_ENST00000382070.3_Splice_Site_p.SG1266fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1304	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCCAGGGGAAACAACTCACCCTGAAGGCCAAAT	0.514			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16																																								3735282	SO:0001630	splice_region_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3914+1CAGGGTGAGTTGTT>-	16.37:g.3795268_3795281delAACAACTCACCCTG			3735269	D3DUC9|O00147|Q16376|Q4LE28	Splice_Site	DEL	ENST00000262367.5	37	CCDS10509.1																																																																																				0.514	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	Frame_Shift_Del	-	3795281	AACAACTCACCCTG	-	3795268	8	5	427	1	0	1	0	1	0	0	1	0	3861	29	1	0		0	CREBBP	16	3795268	Splice_Site	DEL	AACAACTCACCCTG	TCGA-61-1740-01A-01W-0639-09	1421668	3795268	86559485	139	23517											
GSPT1	2935	genome.wustl.edu	37	16	11991711	11991711	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:11991711A>C	ENST00000563468.1	-	1	34	c.8T>G	c.(7-9)cTt>cGt	p.L3R	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.L141R|GSPT1_ENST00000434724.2_Missense_Mutation_p.L141R|GSPT1_ENST00000420576.2_Missense_Mutation_p.L3R			P15170	ERF3A_HUMAN	G1 to S phase transition 1	3					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						AGGTTCTGAAAGTTCCATGCT	0.303																																																0			16											71	61	64					16																	11991711		1802	4077	5879	11899212	SO:0001583	missense	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.8T>G	16.37:g.11991711A>C	ENSP00000454351:p.Leu3Arg		11899212	J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	37	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281543	0.40394	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.45668	1.4;1.42;0.89	5.22	5.22	0.72569	.	0.749151	0.11901	U	0.518645	T	0.33962	0.0881	L	0.34521	1.04	0.34891	D	0.745572	B;B;B	0.31910	0.346;0.346;0.07	B;B;B	0.24541	0.054;0.037;0.039	T	0.46638	-0.9177	10	0.62326	D	0.03	-2.5888	13.9432	0.64069	1.0:0.0:0.0:0.0	.	141;138;3	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	R	141;141;3	ENSP00000398131:L141R;ENSP00000408399:L141R;ENSP00000399539:L3R	ENSP00000399539:L3R	L	-	2	0	GSPT1	11899212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.748000	0.74877	1.970000	0.57323	0.533000	0.62120	CTT		0.303	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		C	11991711	A	C	11991711	3	2	427	1	0	0	0	0	1	0	0	0	6826	72	3	5	1543	5	GSPT1	16	11991711	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	8196443	11991711	78363042	140	23518											
COG7	91949	genome.wustl.edu	37	16	23436107	23436107	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:23436107G>A	ENST00000307149.5	-	7	1157	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	324					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AGCCCTTGGCGAAGTGGGCGG	0.612																																																0			16											100	107	105					16																	23436107		2197	4300	6497	23343608	SO:0001819	synonymous_variant	91949			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.972C>T	16.37:g.23436107G>A			23343608	Q6UWU7	Silent	SNP	ENST00000307149.5	37	CCDS10610.1																																																																																				0.612	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			A	23436107	G	A	23436107	2	1	427	1	0	0	0	0	0	0	0	1	3663	1049	37	1		1	COG7	16	23436107	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	11444396	23436107	66918646	141	23519											
NLRC5	84166	genome.wustl.edu	37	16	57092018	57092018	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:57092018T>G	ENST00000262510.6	+	28	4013	c.3788T>G	c.(3787-3789)cTt>cGt	p.L1263R	NLRC5_ENST00000308149.7_Missense_Mutation_p.L1234R|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1234R|NLRC5_ENST00000436936.1_Missense_Mutation_p.L1263R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1263					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCAGATGCCTTCTGGAATGT	0.572																																																0			16											61	50	54					16																	57092018		2198	4300	6498	55649519	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3788T>G	16.37:g.57092018T>G	ENSP00000262510:p.Leu1263Arg		55649519	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365362	0.41902	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	T;T;T;T;T	0.63744	-0.06;4.86;-0.06;4.86;-0.06	4.68	4.68	0.58851	.	.	.	.	.	T	0.75398	0.3844	M	0.73962	2.25	0.23640	N	0.997228	D;D;D;D	0.61697	0.99;0.966;0.963;0.99	P;P;P;D	0.63283	0.883;0.902;0.839;0.913	T	0.66472	-0.5915	9	0.87932	D	0	.	10.5153	0.44885	0.0:0.0:0.0:1.0	.	947;1234;1263;1263	Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	R	1263;1234;1263;706;1234;739	ENSP00000262510:L1263R;ENSP00000308886:L1234R;ENSP00000389739:L1263R;ENSP00000441727:L1234R;ENSP00000441597:L739R	ENSP00000262510:L1263R	L	+	2	0	NLRC5	55649519	0.762000	0.28451	0.568000	0.28447	0.120000	0.20174	3.336000	0.52113	1.978000	0.57642	0.449000	0.29647	CTT		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		G	57092018	T	G	57092018	3	3	427	1	0	0	0	0	1	0	0	0	10470	1609	56	5	3890	5	NLRC5	16	57092018	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	33655911	57092018	33262735	142	23520											
SLC38A7	55238	genome.wustl.edu	37	16	58711249	58711249	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:58711249G>C	ENST00000570101.1	-	5	1574	c.691C>G	c.(691-693)Cca>Gca	p.P231A	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.P231A|SLC38A7_ENST00000564010.1_Missense_Mutation_p.P142A|SLC38A7_ENST00000564100.1_Missense_Mutation_p.P231A			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	231					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						ATGTTCCCTGGGGTCATCTCT	0.577																																																0			16											185	140	155					16																	58711249		2198	4300	6498	57268750	SO:0001583	missense	55238			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.691C>G	16.37:g.58711249G>C	ENSP00000454646:p.Pro231Ala		57268750	Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229358	0.79688	.	.	ENSG00000103042	ENST00000219320	T	0.02050	4.48	5.85	5.85	0.93711	.	0.048127	0.85682	D	0.000000	T	0.09379	0.0231	M	0.69823	2.125	0.80722	D	1	P;D	0.67145	0.9;0.996	P;P	0.61201	0.484;0.885	T	0.00752	-1.1581	9	.	.	.	.	12.4598	0.55725	0.0757:0.0:0.9243:0.0	.	231;231	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	A	231	ENSP00000219320:P231A	.	P	-	1	0	SLC38A7	57268750	1.000000	0.71417	0.807000	0.32361	0.944000	0.59088	6.290000	0.72712	2.773000	0.95371	0.655000	0.94253	CCA		0.577	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		C	58711249	G	C	58711249	3	2	427	1	0	0	0	0	1	0	0	0	14612	1232	43	3	725	3	SLC38A7	16	58711249	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	1619231	58711249	31643504	143	23521											
NQO1	1728	genome.wustl.edu	37	16	69752323	69752337	+	In_Frame_Del	DEL	TCCGACTCCACCACC	TCCGACTCCACCACC	-	rs200972816|rs546443181|rs201267571		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	TCCGACTCCACCACC	TCCGACTCCACCACC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:69752323_69752337delTCCGACTCCACCACC	ENST00000320623.5	-	2	619_633	c.108_122delGGTGGTGGAGTCGGA	c.(106-123)gaggtggtggagtcggac>gac	p.EVVES36del	NQO1_ENST00000561500.1_In_Frame_Del_p.EVVES36del|NQO1_ENST00000564043.1_In_Frame_Del_p.EVVES15del|NQO1_ENST00000379047.3_In_Frame_Del_p.EVVES36del|NQO1_ENST00000439109.2_In_Frame_Del_p.EVVES36del|NQO1_ENST00000379046.2_In_Frame_Del_p.EVVES36del	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	36					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GGCATAGAGGTCCGACTCCACCACCTCCCATCCTT	0.507																																																0			16																																								68309838	SO:0001651	inframe_deletion	1728			M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.108_122delGGTGGTGGAGTCGGA	16.37:g.69752323_69752337delTCCGACTCCACCACC	ENSP00000319788:p.Glu36_Ser40del		68309824	B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	In_Frame_Del	DEL	ENST00000320623.5	37	CCDS10883.1																																																																																				0.507	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			-	69752337	TCCGACTCCACCACC	-	69752323	7	5	427	1	0	1	0	1	0	0	0	0	10611	1667	58	0	722	0	NQO1	16	69752323	In_Frame_Del	DEL	TCCGACTCCACCACC	TCGA-61-1740-01A-01W-0639-09	11041074	69752323	20602430	144	23522											
TUBB3	10381	genome.wustl.edu	37	16	90001993	90001993	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:90001993C>A	ENST00000315491.7	+	4	1257	c.1134C>A	c.(1132-1134)ttC>ttA	p.F378L	TUBB3_ENST00000556922.1_Missense_Mutation_p.F725L|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000304984.5_Missense_Mutation_p.F306L|TUBB3_ENST00000554444.1_Missense_Mutation_p.F306L	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	378					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	AGGAGCTGTTCAAGCGCATCT	0.632																																																0			16											133	121	125					16																	90001993		2198	4299	6497	88529494	SO:0001583	missense	10381			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1134C>A	16.37:g.90001993C>A	ENSP00000320295:p.Phe378Leu		88529494	A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503223	0.64298	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.66	4.66	0.58398	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000012	D	0.95959	0.8684	M	0.93978	3.48	0.58432	D	0.999996	P;D	0.89917	0.921;1.0	D;D	0.97110	0.947;1.0	D	0.97214	0.9873	9	.	.	.	.	17.5117	0.87762	0.0:1.0:0.0:0.0	.	378;378	Q13509;B2RBD5	TBB3_HUMAN;.	L	725;378;306;306;378	ENSP00000451560:F725L;ENSP00000302777:F306L;ENSP00000451617:F306L;ENSP00000320295:F378L	.	F	+	3	2	RP11-566K11.2;TUBB3	88529494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.600000	0.82769	2.313000	0.78055	0.561000	0.74099	TTC		0.632	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		A	90001993	C	A	90001993	3	1	427	1	0	0	0	0	1	0	0	0	16757	825	29	3	1148	3	TUBB3	16	90001993	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	20249670	90001993	352760	145	23523											
OR1A1	8383	genome.wustl.edu	37	17	3119164	3119164	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:3119164A>C	ENST00000304094.1	+	1	250	c.250A>C	c.(250-252)Aac>Cac	p.N84H		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GATGCTGGCCAACCATCTCTT	0.473																																																0			17											173	145	155					17																	3119164		2203	4300	6503	3065914	SO:0001583	missense	8383			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.250A>C	17.37:g.3119164A>C	ENSP00000305207:p.Asn84His		3065914	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.337042	0.41398	.	.	ENSG00000172146	ENST00000304094	T	0.00472	7.19	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.01061	0.0035	M	0.72353	2.195	0.09310	N	1	P	0.49961	0.93	P	0.57204	0.815	T	0.40515	-0.9559	10	0.87932	D	0	.	13.5918	0.61964	1.0:0.0:0.0:0.0	.	84	Q9P1Q5	OR1A1_HUMAN	H	84	ENSP00000305207:N84H	ENSP00000305207:N84H	N	+	1	0	OR1A1	3065914	0.000000	0.05858	0.868000	0.34077	0.368000	0.29767	1.015000	0.29963	2.089000	0.63090	0.358000	0.22013	AAC		0.473	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		C	3119164	A	C	3119164	3	2	427	1	0	0	0	0	1	0	0	0	10949	130	5	5	252	5	OR1A1	17	3119164	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09		3119164	78076046	146	23524											
TP53	7157	genome.wustl.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000420246.2_Missense_Mutation_p.G266R|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	CTGTTCCGTCCCAGTAGATTA	0.517		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"	86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	17											49	44	46					17																	7577142		2203	4300	6503	7517867	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.796G>A	17.37:g.7577142C>T	ENSP00000269305:p.Gly266Arg		7517867	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577142	C	T	7577142	3	4	427	1	0	0	0	0	1	0	0	0	16381	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	4457978	7577142	73618068	147	23525											
NOS2	4843	genome.wustl.edu	37	17	26092717	26092717	+	Missense_Mutation	SNP	A	A	G	rs199866556		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:26092717A>G	ENST00000313735.6	-	20	2505	c.2272T>C	c.(2272-2274)Tcc>Ccc	p.S758P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	758	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TCCTCACAGGAGAGTTCCACC	0.607																																																0			17											29	31	30					17																	26092717		2203	4300	6503	23116844	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2272T>C	17.37:g.26092717A>G	ENSP00000327251:p.Ser758Pro		23116844	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534009	0.45073	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.66995	-0.24	5.19	4.09	0.47781	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.415854	0.25436	N	0.030687	T	0.77184	0.4093	M	0.90019	3.08	0.25657	N	0.986047	P	0.41978	0.767	P	0.51266	0.664	T	0.70475	-0.4861	10	0.52906	T	0.07	.	6.4612	0.21958	0.7767:0.0:0.0789:0.1444	.	758	P35228	NOS2_HUMAN	P	758;719	ENSP00000327251:S758P	ENSP00000327251:S758P	S	-	1	0	NOS2	23116844	0.999000	0.42202	0.677000	0.29947	0.323000	0.28346	1.458000	0.35223	0.790000	0.33803	0.374000	0.22700	TCC		0.607	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		G	26092717	A	G	26092717	3	3	427	1	0	0	0	0	1	0	0	0	10543	304	11	4	1221	4	NOS2	17	26092717	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	18515575	26092717	55102493	148	23526											
SUPT6H	6830	genome.wustl.edu	37	17	27008981	27008981	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:27008981G>C	ENST00000314616.6	+	13	1863	c.1580G>C	c.(1579-1581)tGc>tCc	p.C527S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.C527S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	527	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TACACCATCTGCCAGAGTGCT	0.527																																																0			17											52	40	44					17																	27008981		2203	4300	6503	24033108	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1580G>C	17.37:g.27008981G>C	ENSP00000319104:p.Cys527Ser		24033108	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060536	0.93846	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	T;T	0.41758	0.99;0.99	5.67	5.67	0.87782	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.86502	2.82	0.80722	D	1	P	0.46621	0.881	P	0.45138	0.471	T	0.65067	-0.6258	10	0.49607	T	0.09	-15.0614	19.7607	0.96316	0.0:0.0:1.0:0.0	.	527	Q7KZ85	SPT6H_HUMAN	S	527	ENSP00000319104:C527S;ENSP00000338143:C527S	ENSP00000319104:C527S	C	+	2	0	SUPT6H	24033108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.359000	0.97115	2.686000	0.91538	0.561000	0.74099	TGC		0.527	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		C	27008981	G	C	27008981	3	2	427	1	0	0	0	0	1	0	0	0	15400	1319	46	3	1626	3	SUPT6H	17	27008981	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	916264	27008981	54186229	149	23527											
NF1	4763	genome.wustl.edu	37	17	29653190	29653190	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:29653190A>C	ENST00000358273.4	+	37	5571	c.5188A>C	c.(5188-5190)Acc>Ccc	p.T1730P	NF1_ENST00000356175.3_Missense_Mutation_p.T1709P|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1730	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCTGCTGCCACCTTGGCTTT	0.448			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17											83	78	80					17																	29653190		2203	4300	6503	26677316	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5188A>C	17.37:g.29653190A>C	ENSP00000351015:p.Thr1730Pro		26677316	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618010	0.87359	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.67171	-0.25;-0.25;-0.25	5.74	5.74	0.90152	Cellular retinaldehyde-binding/triple function, C-terminal (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	0.995;0.997;1.0	D;D;D	0.97110	0.982;0.991;1.0	D	0.85526	0.1206	10	0.72032	D	0.01	.	15.2098	0.73214	1.0:0.0:0.0:0.0	.	759;1709;1730	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	P	1730;1709;1375	ENSP00000351015:T1730P;ENSP00000348498:T1709P;ENSP00000389907:T1375P	ENSP00000348498:T1709P	T	+	1	0	NF1	26677316	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.923000	0.92808	2.202000	0.70862	0.477000	0.44152	ACC		0.448	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29653190	A	C	29653190	3	2	427	1	0	0	0	0	1	0	0	0	10356	159	6	5	5395	5	NF1	17	29653190	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	2644209	29653190	51542020	150	23528											
GAS2L2	246176	genome.wustl.edu	37	17	34072743	34072743	+	Silent	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:34072743G>T	ENST00000254466.6	-	6	1800	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P	GAS2L2_ENST00000587565.1_Silent_p.P575P	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	591					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCCGCCCAAGGGCAGAGGTG	0.602																																																0			17											82	80	81					17																	34072743		2203	4300	6503	31096856	SO:0001819	synonymous_variant	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1773C>A	17.37:g.34072743G>T			31096856	Q8NHY4	Silent	SNP	ENST00000254466.6	37	CCDS11298.1																																																																																				0.602	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		T	34072743	G	T	34072743	2	4	427	1	0	0	0	0	0	0	0	1	6247	987	35	3		3	GAS2L2	17	34072743	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	4419553	34072743	47122467	151	23529											
CWC25	54883	genome.wustl.edu	37	17	36971122	36971122	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:36971122G>A	ENST00000225428.5	-	3	717	c.420C>T	c.(418-420)ttC>ttT	p.F140F	CWC25_ENST00000536127.1_Silent_p.F77F	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	140										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ACCTGATGATGAAGAGTGGGT	0.502																																																0			17											41	41	41					17																	36971122		1878	4107	5985	34224648	SO:0001819	synonymous_variant	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.420C>T	17.37:g.36971122G>A			34224648	A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	CCDS45663.1																																																																																				0.502	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		A	36971122	G	A	36971122	2	1	427	1	0	0	0	0	0	0	0	1	4069	1281	45	2		2	CWC25	17	36971122	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	2898379	36971122	44224088	152	23530											
COL1A1	1277	genome.wustl.edu	37	17	48273315	48273332	+	In_Frame_Del	DEL	GGACCAGCGGGGCCGGTG	GGACCAGCGGGGCCGGTG	-	rs193922137|rs543735501|rs200750214|rs66664580		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	GGACCAGCGGGGCCGGTG	GGACCAGCGGGGCCGGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:48273315_48273332delGGACCAGCGGGGCCGGTG	ENST00000225964.5	-	16	1126_1143	c.1008_1025delCACCGGCCCCGCTGGTCC	c.(1006-1026)cccaccggccccgctggtcct>cct	p.336_342PTGPAGP>P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	336	Triple-helical region.		G -> C (in OI4). {ECO:0000269|PubMed:16786509}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.T337S(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTG	0.583			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	1	Substitution - Missense(1)	liver(1)	17	GRCh37	CM062526|CM070686	COL1A1	M	rs66664580																																			45628331	SO:0001651	inframe_deletion	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1008_1025delCACCGGCCCCGCTGGTCC	17.37:g.48273315_48273332delGGACCAGCGGGGCCGGTG	ENSP00000225964:p.Pro336_Gly341del	953	45628314	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	In_Frame_Del	DEL	ENST00000225964.5	37	CCDS11561.1																																																																																				0.583	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			-	48273332	GGACCAGCGGGGCCGGTG	-	48273315	7	5	427	1	0	1	0	1	0	0	0	0	3677	1000	35	0	3513	0	COL1A1	17	48273315	In_Frame_Del	DEL	GGACCAGCGGGGCCGGTG	TCGA-61-1740-01A-01W-0639-09	11302193	48273315	32921895	153	23531											
RAB37	326624	genome.wustl.edu	37	17	72725485	72725485	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:72725485A>T	ENST00000340415.3	+	2	1172	c.163A>T	c.(163-165)Act>Tct	p.T55S	RAB37_ENST00000402449.4_Missense_Mutation_p.T55S	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	62					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CTTCTCGGCCACTGTGGGCAT	0.602																																																0			17											165	136	146					17																	72725485		2203	4300	6503	70237080	SO:0001583	missense	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000340415.3:c.163A>T	17.37:g.72725485A>T	ENSP00000341354:p.Thr55Ser		70237080	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000340415.3	37		.	.	.	.	.	.	.	.	.	.	a	32	5.142512	0.94560	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617	D;D	0.87571	-2.27;-2.27	5.27	5.27	0.74061	.	.	.	.	.	D	0.91300	0.7257	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.982;0.989;0.987	D	0.92124	0.5706	9	0.87932	D	0	.	13.4949	0.61419	1.0:0.0:0.0:0.0	.	55;55;55	Q96AX2-2;A8MSP2;A8MUU7	.;.;.	S	55	ENSP00000341354:T55S;ENSP00000383934:T55S	ENSP00000341354:T55S	T	+	1	0	RAB37	70237080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.511000	0.90535	2.025000	0.59659	0.520000	0.50463	ACT		0.602	RAB37-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000258876.2	NM_175738		T	72725485	A	T	72725485	3	4	427	1	0	0	0	0	1	0	0	0	12930	159	6	5	169	5	RAB37	17	72725485	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	24452170	72725485	8469725	154	23532											
EVPL	2125	genome.wustl.edu	37	17	74017579	74017579	+	Silent	SNP	G	G	C	rs138421545	byFrequency	TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:74017579G>C	ENST00000301607.3	-	9	1234	c.981C>G	c.(979-981)acC>acG	p.T327T	EVPL_ENST00000586740.1_Silent_p.T327T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	327	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTGCAGCTGGGTCTCCTGGC	0.711													G|||	9	0.00179712	0	0.0058	5008	,	,		8246	0		0.003	False		,,,				2504	0.002															0			17						G		8,4394		0,8,2193	30	27	28		981	1.3	1	17	dbSNP_134	28	75,8523		0,75,4224	no	coding-synonymous	EVPL	NM_001988.2		0,83,6417	CC,CG,GG		0.8723,0.1817,0.6385		327/2034	74017579	83,12917	2201	4299	6500	71529174	SO:0001819	synonymous_variant	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.981C>G	17.37:g.74017579G>C			71529174	A0AUV5	Silent	SNP	ENST00000301607.3	37	CCDS11737.1																																																																																				0.711	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		C	74017579	G	C	74017579	2	2	427	1	0	0	0	0	0	0	0	1	5292	1219	43	3		3	EVPL	17	74017579	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	1292094	74017579	7177631	155	23533											
PDE4A	5141	genome.wustl.edu	37	19	10568608	10568608	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:10568608C>G	ENST00000352831.6	+	8	1041	c.931C>G	c.(931-933)Cag>Gag	p.Q311E	PDE4A_ENST00000440014.2_Missense_Mutation_p.Q250E|PDE4A_ENST00000380702.2_Missense_Mutation_p.Q289E|PDE4A_ENST00000344979.3_Missense_Mutation_p.Q72E|PDE4A_ENST00000293683.5_Missense_Mutation_p.Q285E|PDE4A_ENST00000592685.1_Missense_Mutation_p.Q289E	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	311					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	ACGAGAAAAACAGCAAGCGCC	0.542																																																0			19											79	89	85					19																	10568608		2203	4300	6503	10429608	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.931C>G	19.37:g.10568608C>G	ENSP00000270474:p.Gln311Glu		10429608	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	c	10.99	1.508343	0.27036	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.65549	-0.15;-0.15;-0.16;-0.15;0.13	4.49	-0.593	0.11667	.	1.342580	0.05001	N	0.469038	T	0.69296	0.3095	L	0.42245	1.32	0.09310	N	1	P;P;B;B	0.52577	0.486;0.954;0.104;0.247	B;D;B;B	0.67900	0.205;0.954;0.061;0.108	T	0.57225	-0.7848	10	0.37606	T	0.19	.	7.4133	0.27029	0.4645:0.2646:0.2709:0.0	.	72;250;285;311	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	E	289;311;285;250;72	ENSP00000370078:Q289E;ENSP00000270474:Q311E;ENSP00000293683:Q285E;ENSP00000394754:Q250E;ENSP00000341007:Q72E	ENSP00000293683:Q285E	Q	+	1	0	PDE4A	10429608	0.003000	0.15002	0.001000	0.08648	0.848000	0.48234	0.419000	0.21247	-0.169000	0.10834	0.651000	0.88453	CAG		0.542	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			G	10568608	C	G	10568608	3	3	427	1	0	0	0	0	1	0	0	0	11639	479	17	3	1418	3	PDE4A	19	10568608	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09		10568608	48560375	156	23534											
CLEC17A	388512	genome.wustl.edu	37	19	14705349	14705349	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:14705349C>T	ENST00000417570.1	+	5	336	c.298C>T	c.(298-300)Cct>Tct	p.P100S	CLEC17A_ENST00000397439.2_Missense_Mutation_p.P83S|CLEC17A_ENST00000547437.1_Missense_Mutation_p.P100S	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	100						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										TCCACCAAGACCTCCAAGGGC	0.592																																																0			19											39	39	39					19																	14705349		1948	4143	6091	14566349	SO:0001583	missense	388512			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.298C>T	19.37:g.14705349C>T	ENSP00000393719:p.Pro100Ser		14566349	A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	c	15.53	2.861185	0.51482	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.62364	0.03;1.93;0.03	3.18	3.18	0.36537	.	.	.	.	.	T	0.66616	0.2807	L	0.27053	0.805	0.18873	N	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.992;0.998	T	0.55490	-0.8133	9	0.66056	D	0.02	-3.2377	10.5949	0.45331	0.0:1.0:0.0:0.0	.	100;100;100;100	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	S	100;83;100	ENSP00000450065:P100S;ENSP00000380581:P83S;ENSP00000393719:P100S	ENSP00000341620:P100S	P	+	1	0	CLEC17A	14566349	0.471000	0.25862	0.240000	0.24138	0.007000	0.05969	0.933000	0.28897	1.727000	0.51537	0.450000	0.29827	CCT		0.592	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		T	14705349	C	T	14705349	3	4	427	1	0	0	0	0	1	0	0	0	3501	507	18	2	261	2	CLEC17A	19	14705349	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	4136741	14705349	44423634	157	23535											
PLVAP	83483	genome.wustl.edu	37	19	17476441	17476441	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:17476441A>G	ENST00000252590.4	-	3	894	c.833T>C	c.(832-834)cTc>cCc	p.L278P	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	278					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAGCTCATGAGGCTGGGCAT	0.632																																																0			19											41	42	42					19																	17476441		2203	4299	6502	17337441	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.833T>C	19.37:g.17476441A>G	ENSP00000252590:p.Leu278Pro		17337441	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347986	0.41599	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.17	4.15	0.48705	.	1.113020	0.06579	N	0.749912	T	0.49677	0.1571	N	0.19112	0.55	0.49483	D	0.999793	D	0.61080	0.989	P	0.55055	0.767	T	0.39440	-0.9614	9	0.30854	T	0.27	-13.2541	6.8669	0.24098	0.8975:0.0:0.1025:0.0	.	278	Q9BX97	PLVAP_HUMAN	P	278	.	ENSP00000252590:L278P	L	-	2	0	PLVAP	17337441	0.376000	0.25098	0.856000	0.33681	0.228000	0.25075	1.936000	0.40183	1.962000	0.57031	0.374000	0.22700	CTC		0.632	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		G	17476441	A	G	17476441	3	3	427	1	0	0	0	0	1	0	0	0	12116	304	11	4	511	4	PLVAP	19	17476441	Missense_Mutation	SNP	A	TCGA-61-1740-01A-01W-0639-09	2771092	17476441	41652542	158	23536											
ZNF626	199777	genome.wustl.edu	37	19	20808409	20808409	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:20808409T>C	ENST00000601440.1	-	4	420	c.274A>G	c.(274-276)Aaa>Gaa	p.K92E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAGAATCTTTCATGCTCTGC	0.333																																																0			19											53	59	57					19																	20808409		2166	4277	6443	20600249	SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.274A>G	19.37:g.20808409T>C	ENSP00000469958:p.Lys92Glu		20600249	Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	5.754	0.323611	0.10900	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	T	0.05025	3.51	1.08	-0.758	0.11049	.	.	.	.	.	T	0.11067	0.0270	L	0.55481	1.735	0.09310	N	1	D	0.53885	0.963	P	0.58454	0.839	T	0.32052	-0.9921	9	0.21540	T	0.41	.	3.9794	0.09489	0.3111:0.0:0.0:0.6889	.	92	Q68DY1	ZN626_HUMAN	E	92;16;92	ENSP00000445201:K92E	ENSP00000445201:K92E	K	-	1	0	ZNF626	20600249	0.000000	0.05858	0.008000	0.14137	0.019000	0.09904	-1.076000	0.03420	0.424000	0.26061	0.240000	0.17902	AAA		0.333	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		C	20808409	T	C	20808409	3	2	427	1	0	0	0	0	1	0	0	0	18050	1792	62	4	1316	4	ZNF626	19	20808409	Missense_Mutation	SNP	T	TCGA-61-1740-01A-01W-0639-09	3331968	20808409	38320574	159	23537											
PAPL	390928	genome.wustl.edu	37	19	39589176	39589176	+	Missense_Mutation	SNP	C	C	T	rs550310336		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:39589176C>T	ENST00000331256.5	+	3	474	c.200C>T	c.(199-201)tCg>tTg	p.S67L	PAPL_ENST00000594229.1_Missense_Mutation_p.S67L	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		67						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										TTGCAGCCGTCGGGGCCCCTG	0.637													c|||	1	0.000199681	0	0	5008	,	,		12609	0		0.001	False		,,,				2504	0															0			19											38	34	35					19																	39589176		2203	4300	6503	44281016	SO:0001583	missense	390928																														ENST00000331256.5:c.200C>T	19.37:g.39589176C>T	ENSP00000327557:p.Ser67Leu		44281016	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	3.195	-0.164993	0.06502	.	.	ENSG00000183760	ENST00000331256	D	0.81908	-1.55	5.2	1.36	0.22044	Purple acid phosphatase-like, N-terminal (1);Purple acid phosphatase, N-terminal (1);	0.283763	0.31233	N	0.008010	T	0.72827	0.3509	L	0.48986	1.54	0.09310	N	1	B	0.32781	0.384	B	0.24394	0.053	T	0.62770	-0.6784	10	0.33940	T	0.23	-1.733	9.9587	0.41682	0.1292:0.5311:0.3397:0.0	.	67	Q6ZNF0	PAPL_HUMAN	L	67	ENSP00000327557:S67L	ENSP00000327557:S67L	S	+	2	0	AC011443.1	44281016	0.001000	0.12720	0.001000	0.08648	0.048000	0.14542	0.809000	0.27168	1.172000	0.42781	0.655000	0.94253	TCG		0.637	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			T	39589176	C	T	39589176	3	4	427	1	0	0	0	0	1	0	0	0	11427	893	31	1	206	1	PAPL	19	39589176	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	18780767	39589176	19539807	160	23538											
SFRS16	11129	genome.wustl.edu	37	19	45571691	45571691	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:45571691C>G	ENST00000221455.3	+	16	1819	c.1721C>G	c.(1720-1722)cCt>cGt	p.P574R	CLASRP_ENST00000544944.2_Intron|CLASRP_ENST00000391953.4_Missense_Mutation_p.P512R	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	574	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AAGCTGACGCCTCAGGAGAAG	0.607																																																0			19											76	68	71					19																	45571691		2203	4300	6503	50263531	SO:0001583	missense	11129			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1721C>G	19.37:g.45571691C>G	ENSP00000221455:p.Pro574Arg		50263531	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134115	0.56828	.	.	ENSG00000104859	ENST00000221455;ENST00000391953	T;T	0.32988	1.43;1.43	5.44	4.34	0.51931	.	0.000000	0.35970	U	0.002873	T	0.48786	0.1519	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.66351	0.943;0.941	T	0.35425	-0.9789	10	0.31617	T	0.26	-15.3845	11.3418	0.49537	0.0:0.8168:0.1832:0.0	.	512;574	F8WAG9;Q8N2M8	.;CLASR_HUMAN	R	574;512	ENSP00000221455:P574R;ENSP00000375815:P512R	ENSP00000221455:P574R	P	+	2	0	CLASRP	50263531	0.985000	0.35326	0.922000	0.36590	0.878000	0.50629	3.594000	0.54008	2.576000	0.86940	0.561000	0.74099	CCT		0.607	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		G	45571691	C	G	45571691	3	3	427	1	0	0	0	0	1	0	0	0	14175	681	24	3	1779	3	SFRS16	19	45571691	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	5982515	45571691	13557292	161	23539											
NOVA2	4858	genome.wustl.edu	37	19	46443349	46443349	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:46443349C>T	ENST00000263257.5	-	4	1445	c.1251G>A	c.(1249-1251)ctG>ctA	p.L417L		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	417	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TGGCTCCCACCAGGTTCTCAG	0.677																																																0			19											96	98	97					19																	46443349		2203	4300	6503	51135189	SO:0001819	synonymous_variant	4858			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1251G>A	19.37:g.46443349C>T			51135189	O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	CCDS12679.1																																																																																				0.677	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		T	46443349	C	T	46443349	2	4	427	1	0	0	0	0	0	0	0	1	10555	581	21	2		2	NOVA2	19	46443349	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	871658	46443349	12685634	162	23540											
RUVBL2	10856	genome.wustl.edu	37	19	49514495	49514495	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:49514495C>T	ENST00000595090.1	+	11	1393	c.929C>T	c.(928-930)tCc>tTc	p.S310F	RUVBL2_ENST00000601968.1_Missense_Mutation_p.S265F|RUVBL2_ENST00000413176.2_Missense_Mutation_p.S265F	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	310					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GAGAGCTTCTCCTTCCTCAAC	0.637																																																0			19											68	73	71					19																	49514495		2166	4278	6444	54206307	SO:0001583	missense	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.929C>T	19.37:g.49514495C>T	ENSP00000473172:p.Ser310Phe		54206307	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088250	0.94100	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.50277	0.75	5.29	5.29	0.74685	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87145	0.2205	10	0.87932	D	0	-28.373	16.7985	0.85608	0.0:1.0:0.0:0.0	.	310;276	Q9Y230;B3KNL2	RUVB2_HUMAN;.	F	310;265	ENSP00000413890:S265F	ENSP00000221413:S310F	S	+	2	0	RUVBL2	54206307	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.390000	0.66261	2.651000	0.90000	0.561000	0.74099	TCC		0.637	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			T	49514495	C	T	49514495	3	4	427	1	0	0	0	0	1	0	0	0	13756	855	30	2	971	2	RUVBL2	19	49514495	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	3071146	49514495	9614488	163	23541											
SHANK1	50944	genome.wustl.edu	37	19	51205807	51205807	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:51205807G>A	ENST00000293441.1	-	11	1682	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L	SHANK1_ENST00000391814.1_Missense_Mutation_p.P555L|SHANK1_ENST00000359082.3_Missense_Mutation_p.P555L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	555	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGCGTCCGGGTACCGCTGA	0.697																																																0			19											48	38	42					19																	51205807		2203	4300	6503	55897619	SO:0001583	missense	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1664C>T	19.37:g.51205807G>A	ENSP00000293441:p.Pro555Leu		55897619	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	14.09	2.430867	0.43122	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.14144	2.53;2.53;2.53	3.55	3.55	0.40652	Src homology-3 domain (2);	0.000000	0.64402	U	0.000004	T	0.41305	0.1153	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.53070	-0.8490	10	0.87932	D	0	-14.9361	15.0802	0.72108	0.0:0.0:1.0:0.0	.	555	Q9Y566	SHAN1_HUMAN	L	555	ENSP00000293441:P555L;ENSP00000351984:P555L;ENSP00000375690:P555L	ENSP00000293441:P555L	P	-	2	0	SHANK1	55897619	1.000000	0.71417	0.161000	0.22692	0.678000	0.39670	8.523000	0.90576	2.286000	0.76751	0.555000	0.69702	CCC		0.697	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51205807	G	A	51205807	3	1	427	1	0	0	0	0	1	0	0	0	14267	1232	43	2	4873	2	SHANK1	19	51205807	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	1691312	51205807	7923176	164	23542											
ZNF549	256051	genome.wustl.edu	37	19	58049641	58049641	+	Silent	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:58049641G>T	ENST00000376233.3	+	4	1450	c.1269G>T	c.(1267-1269)ggG>ggT	p.G423G	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Silent_p.G410G|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAATGTGGGAAGGCCTTCA	0.413																																																0			19											59	60	60					19																	58049641		2203	4300	6503	62741453	SO:0001819	synonymous_variant	256051			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1269G>T	19.37:g.58049641G>T			62741453	B3KV91|O43336|Q8NAR4	Silent	SNP	ENST00000376233.3	37	CCDS56106.1																																																																																				0.413	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		T	58049641	G	T	58049641	2	4	427	1	0	0	0	0	0	0	0	1	17981	1161	41	3		3	ZNF549	19	58049641	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09	6843834	58049641	1079342	165	23543											
SNTA1	6640	genome.wustl.edu	37	20	32026806	32026806	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr20:32026806G>C	ENST00000217381.2	-	2	608	c.337C>G	c.(337-339)Ctc>Gtc	p.L113V		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	113	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TTGGAAATGAGAATAGGCATC	0.507																																																0			20											108	106	107					20																	32026806		2203	4300	6503	31490467	SO:0001583	missense	6640			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.337C>G	20.37:g.32026806G>C	ENSP00000217381:p.Leu113Val		31490467	A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165520	0.57476	.	.	ENSG00000101400	ENST00000217381	T	0.51071	0.72	4.92	4.92	0.64577	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.53045	0.1772	N	0.25485	0.75	0.80722	D	1	P;B	0.52463	0.953;0.028	D;P	0.77004	0.989;0.577	T	0.43426	-0.9392	10	0.26408	T	0.33	-7.7841	12.6874	0.56956	0.0814:0.0:0.9186:0.0	.	113;113	B4DX40;Q13424	.;SNTA1_HUMAN	V	113	ENSP00000217381:L113V	ENSP00000217381:L113V	L	-	1	0	SNTA1	31490467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.755000	0.47540	2.554000	0.86153	0.561000	0.74099	CTC		0.507	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		C	32026806	G	C	32026806	3	2	427	1	0	0	0	0	1	0	0	0	14874	942	33	3	1208	3	SNTA1	20	32026806	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09		32026806	30998714	166	23544											
PTPRT	11122	genome.wustl.edu	37	20	41385102	41385102	+	Splice_Site	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr20:41385102C>A	ENST00000373187.1	-	6	858	c.859G>T	c.(859-861)Gag>Tag	p.E287*	PTPRT_ENST00000373198.4_Splice_Site_p.E287*|PTPRT_ENST00000373184.1_Splice_Site_p.E287*|PTPRT_ENST00000373190.1_Splice_Site_p.E287*|PTPRT_ENST00000373193.3_Splice_Site_p.E287*|PTPRT_ENST00000373201.1_Splice_Site_p.E287*|PTPRT_ENST00000356100.2_Splice_Site_p.E287*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	287					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.E287K(1)|p.E287*(1)|p.?(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCACTCACCTTTCACGATC	0.567																																																3	Substitution - Nonsense(1)|Unknown(1)|Substitution - Missense(1)	lung(3)	20											50	50	50					20																	41385102		2139	4241	6380	40818516	SO:0001630	splice_region_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.859+1G>T	20.37:g.41385102C>A			40818516	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	40	8.517797	0.98845	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.75	5.75	0.90469	.	0.131818	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5368	0.95256	0.0:1.0:0.0:0.0	.	.	.	.	X	287	.	.	E	-	1	0	PTPRT	40818516	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.487000	0.81328	2.720000	0.93068	0.655000	0.94253	GAG		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		Nonsense_Mutation	A	41385102	C	A	41385102	5	1	427	1	0	0	0	0	0	0	1	0	12815	695	24	3	3631	3	PTPRT	20	41385102	Splice_Site	SNP	C	TCGA-61-1740-01A-01W-0639-09	9358296	41385102	21640418	167	23545											
SLC12A5	57468	genome.wustl.edu	37	20	44678357	44678357	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr20:44678357C>T	ENST00000454036.2	+	17	2227	c.2178C>T	c.(2176-2178)ggC>ggT	p.G726G	SLC12A5_ENST00000243964.3_Silent_p.G703G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	726					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGGGGAAGGGCCTGACCATCG	0.627																																																0			20											56	40	45					20																	44678357		2203	4300	6503	44111764	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2178C>T	20.37:g.44678357C>T			44111764	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	CCDS46610.1																																																																																				0.627	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44678357	C	T	44678357	2	4	427	1	0	0	0	0	0	0	0	1	14389	726	26	2		2	SLC12A5	20	44678357	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	3293255	44678357	18347163	168	23546											
PCNT	5116	genome.wustl.edu	37	21	47746311	47746312	+	Frame_Shift_Ins	INS	-	-	AAAC	rs201723088		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr21:47746311_47746312insAAAC	ENST00000359568.5	+	2	182_183	c.75_76insAAAC	c.(76-78)aaafs	p.-26fs	PCNT_ENST00000480896.1_3'UTR|C21orf58_ENST00000397680.1_5'Flank|C21orf58_ENST00000397685.4_5'Flank|C21orf58_ENST00000291691.7_5'Flank|C21orf58_ENST00000397682.3_5'Flank	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						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)				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)					TCCGACAGAGAAAAACAAAAGG	0.465																																																0			21																																								46570740	SO:0001589	frameshift_variant	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	Exception_encountered	21.37:g.47746311_47746312insAAAC	ENSP00000352572:p.Lys26fs		46570739	O43152|Q7Z7C9	Frame_Shift_Ins	INS	ENST00000359568.5	37	CCDS33592.1																																																																																				0.465	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		AAAC	47746312	-	AAAC	47746311	7	5	427	1	0	1	1	0	0	0	0	0	11590	243	9	0	81	0	PCNT	21	47746311	Frame_Shift_Ins	INS	-	TCGA-61-1740-01A-01W-0639-09		47746311	383584	169	23547											
MAPK1	5594	genome.wustl.edu	37	22	22160160	22160160	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:22160160G>C	ENST00000215832.6	-	3	659	c.471C>G	c.(469-471)ctC>ctG	p.L157L	MAPK1_ENST00000398822.3_Silent_p.L157L|MAPK1_ENST00000544786.1_Silent_p.L157L	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L157L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	AGGTGGTGTTGAGCAGCAGGT	0.393																																																1	Substitution - coding silent(1)	lung(1)	22											162	146	151					22																	22160160		2203	4300	6503	20490160	SO:0001819	synonymous_variant	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.471C>G	22.37:g.22160160G>C			20490160	A8CZ64	Silent	SNP	ENST00000215832.6	37	CCDS13795.1																																																																																				0.393	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			C	22160160	G	C	22160160	2	2	427	1	0	0	0	0	0	0	0	1	9271	1277	45	3		3	MAPK1	22	22160160	Silent	SNP	G	TCGA-61-1740-01A-01W-0639-09		22160160	29144406	170	23548											
SEZ6L	23544	genome.wustl.edu	37	22	26693012	26693012	+	Silent	SNP	C	C	T	rs371203903		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:26693012C>T	ENST00000248933.6	+	4	1223	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000529632.2_Silent_p.D376D|SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000360929.3_Silent_p.D376D|SEZ6L_ENST00000402979.1_Silent_p.D149D|SEZ6L_ENST00000403121.1_Silent_p.D149D			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	376	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.D376D(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTTCCAGGACGACGGCCTTG	0.577																																																2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	22						C	,,,,,	0,4406		0,0,2203	49	43	45		1128,1128,1128,1128,1128,1128	-10.5	0	22		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	376/1024,376/1014,376/1012,376/950,376/949,376/1025	26693012	1,13005	2203	4300	6503	25023012	SO:0001819	synonymous_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1128C>T	22.37:g.26693012C>T			25023012	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																				0.577	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			T	26693012	C	T	26693012	2	4	427	1	0	0	0	0	0	0	0	1	14146	535	19	1		1	SEZ6L	22	26693012	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	4532852	26693012	24611554	171	23549											
HPS4	89781	genome.wustl.edu	37	22	26860099	26860099	+	Silent	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:26860099T>C	ENST00000398145.2	-	11	2113	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	HPS4_ENST00000398141.1_Silent_p.E512E|HPS4_ENST00000402105.3_Silent_p.E494E|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Silent_p.E499E	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	499					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CTGCGTGGCTTTCACAGACCC	0.577									Hermansky-Pudlak syndrome																																							0			22											142	136	138					22																	26860099		2203	4300	6503	25190099	SO:0001819	synonymous_variant	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1497A>G	22.37:g.26860099T>C			25190099	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	CCDS13835.1																																																																																				0.577	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		C	26860099	T	C	26860099	2	2	427	1	0	0	0	0	0	0	0	1	7341	1838	64	4		4	HPS4	22	26860099	Silent	SNP	T	TCGA-61-1740-01A-01W-0639-09	167087	26860099	24444467	172	23550											
CACNG2	10369	genome.wustl.edu	37	22	36960895	36960895	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:36960895C>T	ENST00000300105.6	-	4	1456	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	159					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CCGGCATTGGCAGATATGTAC	0.537																																																0			22											100	113	109					22																	36960895		2202	4300	6502	35290841	SO:0001583	missense	10369			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.475G>A	22.37:g.36960895C>T	ENSP00000300105:p.Ala159Thr		35290841	Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413052	0.83449	.	.	ENSG00000166862	ENST00000300105	D	0.89196	-2.48	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92384	0.7583	M	0.74881	2.28	0.80722	D	1	D	0.55605	0.972	P	0.51615	0.675	D	0.93021	0.6440	10	0.72032	D	0.01	-17.6385	19.4694	0.94956	0.0:1.0:0.0:0.0	.	159	Q9Y698	CCG2_HUMAN	T	159	ENSP00000300105:A159T	ENSP00000300105:A159T	A	-	1	0	CACNG2	35290841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.728000	0.68531	2.612000	0.88384	0.563000	0.77884	GCC		0.537	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			T	36960895	C	T	36960895	3	4	427	1	0	0	0	0	1	0	0	0	2557	710	25	2	500	2	CACNG2	22	36960895	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	10100796	36960895	14343671	173	23551											
CYTH4	27128	genome.wustl.edu	37	22	37699341	37699346	+	In_Frame_Del	DEL	CCTCCA	CCTCCA	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	CCTCCA	CCTCCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:37699341_37699346delCCTCCA	ENST00000248901.6	+	8	781_786	c.594_599delCCTCCA	c.(592-600)agcctccac>agc	p.LH199del		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	199	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCAACACCAGCCTCCACAATCCCAAC	0.612																																																0			22																																								36029292	SO:0001651	inframe_deletion	27128			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.594_599delCCTCCA	22.37:g.37699341_37699346delCCTCCA	ENSP00000248901:p.Leu199_His200del		36029287	Q5R3F9|Q9UGT6	In_Frame_Del	DEL	ENST00000248901.6	37	CCDS13946.1																																																																																				0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			-	37699346	CCTCCA	-	37699341	7	5	427	1	0	1	0	1	0	0	0	0	4206	738	26	0	624	0	CYTH4	22	37699341	In_Frame_Del	DEL	CCTCCA	TCGA-61-1740-01A-01W-0639-09	738446	37699341	13605225	174	23552											
RRP7A	27341	genome.wustl.edu	37	22	42910203	42910203	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:42910203G>C	ENST00000323013.6	-	6	681	c.666C>G	c.(664-666)agC>agG	p.S222R	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	222							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GCACCCGCAAGCTGGCTGCCT	0.662																																																0			22											29	24	26					22																	42910203		2203	4300	6503	41240147	SO:0001583	missense	27341			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.666C>G	22.37:g.42910203G>C	ENSP00000321449:p.Ser222Arg		41240147	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	ENST00000323013.6	37	CCDS14036.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.075781	0.36662	.	.	ENSG00000189306	ENST00000323013	T	0.23950	1.88	3.66	2.62	0.31277	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.092352	0.64402	D	0.000001	T	0.20700	0.0498	N	0.16602	0.42	0.33980	D	0.647846	P;P	0.50369	0.934;0.601	P;B	0.51101	0.659;0.345	T	0.23404	-1.0189	10	0.62326	D	0.03	-23.0179	7.569	0.27896	0.1999:0.0:0.8001:0.0	.	222;46	Q9Y3A4;Q9NSQ0	RRP7A_HUMAN;RRP7B_HUMAN	R	222	ENSP00000321449:S222R	ENSP00000321449:S222R	S	-	3	2	RRP7A	41240147	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	2.668000	0.46816	1.747000	0.51819	0.205000	0.17691	AGC		0.662	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		C	42910203	G	C	42910203	3	2	427	1	0	0	0	0	1	0	0	0	13692	962	34	3	184	3	RRP7A	22	42910203	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	5210862	42910203	8394363	175	23553											
SBF1	6305	genome.wustl.edu	37	22	50903536	50903536	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:50903536C>A	ENST00000390679.3	-	12	1410	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	SBF1_ENST00000348911.6_Missense_Mutation_p.G410V|SBF1_ENST00000380817.3_Missense_Mutation_p.G409V			O95248	MTMR5_HUMAN	SET binding factor 1	409	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTACCAGCCCACGCTGGCC	0.627																																																0			22											67	72	71					22																	50903536		2134	4242	6376	49250402	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1226G>T	22.37:g.50903536C>A	ENSP00000375097:p.Gly409Val		49250402	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	C	18.30	3.593484	0.66219	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.42131	0.98;0.98;0.98	3.93	3.93	0.45458	dDENN (3);	0.370607	0.23569	N	0.046769	T	0.60894	0.2304	M	0.63843	1.955	0.58432	D	0.999999	D;P;P	0.63046	0.992;0.923;0.923	D;P;P	0.70487	0.969;0.56;0.56	T	0.65957	-0.6042	10	0.66056	D	0.02	.	15.7335	0.77825	0.0:1.0:0.0:0.0	.	409;410;409	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	V	409;410;420;419;409	ENSP00000370196:G409V;ENSP00000252027:G410V;ENSP00000375097:G409V	ENSP00000336522:G419V	G	-	2	0	SBF1	49250402	0.804000	0.28969	0.998000	0.56505	0.949000	0.60115	2.295000	0.43576	2.028000	0.59812	0.655000	0.94253	GGG		0.627	SBF1-201	KNOWN	basic	protein_coding	protein_coding				A	50903536	C	A	50903536	3	1	427	1	0	0	0	0	1	0	0	0	13861	623	22	3	4575	3	SBF1	22	50903536	Missense_Mutation	SNP	C	TCGA-61-1740-01A-01W-0639-09	7993333	50903536	401030	176	23554											
POLA1	5422	genome.wustl.edu	37	X	24830877	24830877	+	Missense_Mutation	SNP	G	G	T	rs182314888		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chrX:24830877G>T	ENST00000379059.3	+	29	3190	c.3175G>T	c.(3175-3177)Gtt>Ttt	p.V1059F	POLA1_ENST00000379068.3_Missense_Mutation_p.V1065F	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1059					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CGCTGCTCTGGTTGTTGAGCC	0.398																																																0			X											107	102	104					X																	24830877		2203	4300	6503	24740798	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3175G>T	X.37:g.24830877G>T	ENSP00000368349:p.Val1059Phe		24740798	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913245	0.52439	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18016	2.24;2.24	4.81	3.95	0.45737	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.353337	0.31335	N	0.007834	T	0.12561	0.0305	L	0.34521	1.04	0.39059	D	0.960487	P	0.36144	0.539	B	0.40410	0.328	T	0.13872	-1.0493	10	0.11182	T	0.66	-10.6148	7.2044	0.25899	0.2922:0.0:0.7077:0.0	.	1059	P09884	DPOLA_HUMAN	F	1065;1059	ENSP00000368358:V1065F;ENSP00000368349:V1059F	ENSP00000368349:V1059F	V	+	1	0	POLA1	24740798	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.570000	0.45981	1.037000	0.40024	0.513000	0.50165	GTT		0.398	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		T	24830877	G	T	24830877	3	4	427	1	0	0	0	0	1	0	0	0	12187	1261	44	3	3289	3	POLA1	23	24830877	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09		24830877	130439683	177	23555											
CASK	8573	genome.wustl.edu	37	X	41646436	41646436	+	Missense_Mutation	SNP	G	G	T	rs201151046		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chrX:41646436G>T	ENST00000378163.1	-	3	747	c.273C>A	c.(271-273)ttC>ttA	p.F91L	CASK_ENST00000361962.4_Missense_Mutation_p.F91L|CASK_ENST00000378154.1_Missense_Mutation_p.F91L|CASK_ENST00000378158.1_Missense_Mutation_p.F91L|CASK_ENST00000378166.4_Missense_Mutation_p.F91L|CASK_ENST00000442742.2_Missense_Mutation_p.F91L|CASK_ENST00000421587.2_Missense_Mutation_p.F91L|CASK_ENST00000318588.9_Missense_Mutation_p.F91L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTCACAATTCGAAAACCATGT	0.358																																					NSCLC(42;104 1086 3090 27189 35040)											0			X											165	139	148					X																	41646436		2203	4300	6503	41531380	SO:0001583	missense	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.273C>A	X.37:g.41646436G>T	ENSP00000367405:p.Phe91Leu		41531380	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.958705	0.74016	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.51	3.17	0.36434	.	0.000000	0.46758	D	0.000278	T	0.26231	0.0640	N	0.00864	-1.135	0.80722	D	1	D;P;D	0.76494	0.966;0.882;0.999	B;P;P	0.60173	0.38;0.82;0.87	T	0.43278	-0.9401	10	0.72032	D	0.01	.	8.1679	0.31237	0.8293:0.0:0.1707:0.0	.	91;91;91	O14936-3;O14936-4;O14936-2	.;.;.	L	91	ENSP00000400526:F91L;ENSP00000322727:F91L;ENSP00000354641:F91L;ENSP00000367405:F91L;ENSP00000367400:F91L;ENSP00000367408:F91L;ENSP00000398007:F91L;ENSP00000367396:F91L	ENSP00000322727:F91L	F	-	3	2	CASK	41531380	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.652000	0.24888	0.750000	0.32877	-0.374000	0.07098	TTC		0.358	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		T	41646436	G	T	41646436	3	4	427	1	0	0	0	0	1	0	0	0	2665	1049	37	3	2607	3	CASK	23	41646436	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	16815559	41646436	113624124	178	23556											
WDR13	64743	genome.wustl.edu	37	X	48463354	48463354	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chrX:48463354C>T	ENST00000218056.5	+	9	1897	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	WDR13_ENST00000376729.5_Silent_p.D464D	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	464						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCAACTGCGACGAGAGCCTAC	0.617																																																0			X											83	53	63					X																	48463354		2203	4300	6503	48348298	SO:0001819	synonymous_variant	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1392C>T	X.37:g.48463354C>T			48348298	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	ENST00000218056.5	37	CCDS14302.1																																																																																				0.617	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			T	48463354	C	T	48463354	2	4	427	1	0	0	0	0	0	0	0	1	17275	535	19	1		1	WDR13	23	48463354	Silent	SNP	C	TCGA-61-1740-01A-01W-0639-09	6816918	48463354	106807206	179	23557											
MAGEC2	51438	genome.wustl.edu	37	X	141291397	141291397	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chrX:141291397G>C	ENST00000247452.3	-	3	724	c.377C>G	c.(376-378)aCc>aGc	p.T126S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	126					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTGACAGGTGCCTGTATC	0.532										HNSCC(46;0.14)																																						0			X											88	87	87					X																	141291397		2203	4300	6503	141119063	SO:0001583	missense	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.377C>G	X.37:g.141291397G>C	ENSP00000354660:p.Thr126Ser		141119063	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	1.003	-0.690260	0.03303	.	.	ENSG00000046774	ENST00000247452	T	0.03663	3.85	0.861	-0.103	0.13609	Melanoma associated antigen, MAGE, N-terminal (1);	2582.640000	0.00447	N	0.000096	T	0.03564	0.0102	N	0.17082	0.46	0.09310	N	1	B	0.28470	0.213	B	0.37989	0.262	T	0.41052	-0.9530	10	0.19590	T	0.45	.	3.0977	0.06315	0.351:0.0:0.649:0.0	.	126	Q9UBF1	MAGC2_HUMAN	S	126	ENSP00000354660:T126S	ENSP00000354660:T126S	T	-	2	0	MAGEC2	141119063	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.415000	0.21181	-0.087000	0.12528	0.458000	0.33432	ACC		0.532	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		C	141291397	G	C	141291397	3	2	427	1	0	0	0	0	1	0	0	0	9181	1261	44	3	748	3	MAGEC2	23	141291397	Missense_Mutation	SNP	G	TCGA-61-1740-01A-01W-0639-09	92828043	141291397	13979163	180	23558											
CLCN6	1185	genome.wustl.edu	37	1	11897090	11897090	+	Missense_Mutation	SNP	G	G	A	rs143362803		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr1:11897090G>A	ENST00000346436.6	+	19	2067	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	CLCN6_ENST00000376496.3_Missense_Mutation_p.R672H|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.R650H	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	672					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGAGCAGCGCAAACGGAGC	0.597													G|||	1	0.000199681	8e-04	0	5008	,	,		18851	0		0	False		,,,				2504	0															0			1						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	65	62	63		2015	5.7	1	1	dbSNP_134	63	0,8600		0,0,4300	no	missense	CLCN6	NM_001286.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	672/870	11897090	2,13004	2203	4300	6503	11819677	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2015G>A	1.37:g.11897090G>A	ENSP00000234488:p.Arg672His		11819677	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464041	0.96257	4.54E-4	0.0	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91792	-2.89;-2.88;-2.91	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.93370	0.7886	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.57960	0.83;0.68	D	0.92739	0.6206	10	0.44086	T	0.13	-27.7268	18.8259	0.92119	0.0:0.0:1.0:0.0	.	650;672	F8W9R3;P51797	.;CLCN6_HUMAN	H	672;650;672	ENSP00000234488:R672H;ENSP00000365670:R650H;ENSP00000365679:R672H	ENSP00000234488:R672H	R	+	2	0	CLCN6	11819677	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	8.902000	0.92568	2.711000	0.92665	0.561000	0.74099	CGC		0.597	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		A	11897090	G	A	11897090	3	1	428	1	0	0	0	0	1	0	0	0	3467	1087	38	1	2099	1	CLCN6	1	11897090	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09		11897090	237353531	1	23559											
KIF17	57576	genome.wustl.edu	37	1	21041991	21041991	+	Missense_Mutation	SNP	C	C	T	rs146714930	byFrequency	TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr1:21041991C>T	ENST00000247986.2	-	2	683	c.373G>A	c.(373-375)Gtc>Atc	p.V125I	KIF17_ENST00000375044.1_Missense_Mutation_p.V25I|KIF17_ENST00000400463.3_Missense_Mutation_p.V125I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	125	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTACCTGGACGCTCTCGAAC	0.657													C|||	3	0.000599042	0.0015	0	5008	,	,		18803	0.001		0	False		,,,				2504	0															0			1						C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	65	61	62		373,373	5.3	0.9	1	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	KIF17	NM_001122819.1,NM_020816.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	125/1029,125/1030	21041991	1,13005	2203	4300	6503	20914578	SO:0001583	missense	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.373G>A	1.37:g.21041991C>T	ENSP00000247986:p.Val125Ile		20914578	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.346	0.249075	0.10130	2.27E-4	0.0	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.72942	-0.7;-0.7;-0.7	5.27	5.27	0.74061	Kinesin, motor domain (4);	0.000000	0.29892	U	0.010927	T	0.30135	0.0755	N	0.00413	-1.525	0.35162	D	0.770759	P;P	0.37061	0.477;0.58	B;B	0.33750	0.056;0.169	T	0.57347	-0.7827	10	0.02654	T	1	.	11.0167	0.47693	0.0:0.9138:0.0:0.0862	.	125;125	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	I	25;125;125	ENSP00000364184:V25I;ENSP00000383311:V125I;ENSP00000247986:V125I	ENSP00000247986:V125I	V	-	1	0	KIF17	20914578	0.994000	0.37717	0.930000	0.37139	0.413000	0.31143	2.965000	0.49200	2.469000	0.83416	0.650000	0.86243	GTC		0.657	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		T	21041991	C	T	21041991	3	4	428	1	0	0	0	0	1	0	0	0	8279	536	19	1	2772	1	KIF17	1	21041991	Missense_Mutation	SNP	C	TCGA-61-1741-01A-02W-0639-09	9144901	21041991	228208630	2	23560											
DPH5	51611	genome.wustl.edu	37	1	101456177	101456177	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr1:101456177C>T	ENST00000370109.3	-	8	757	c.645G>A	c.(643-645)gaG>gaA	p.E215E	AC093157.1_ENST00000593496.1_Silent_p.S57S|DPH5_ENST00000488176.1_Silent_p.E215E|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.E214E	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	215					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AAAGTGTCTCCTCGGTAACTG	0.423																																																0			1											68	65	66					1																	101456177		1913	4115	6028	101228765	SO:0001819	synonymous_variant	51611			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"DPH5 homolog (S. cerevisiae)"			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.645G>A	1.37:g.101456177C>T			101228765	A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	CCDS41358.1																																																																																				0.423	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		T	101456177	C	T	101456177	2	4	428	1	0	0	0	0	0	0	0	1	4723	680	24	2		2	DPH5	1	101456177	Silent	SNP	C	TCGA-61-1741-01A-02W-0639-09	80414186	101456177	147794444	3	23561											
ASTN1	460	genome.wustl.edu	37	1	176838036	176838036	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr1:176838036C>T	ENST00000367654.3	-	22	3826	c.3615G>A	c.(3613-3615)caG>caA	p.Q1205Q	ASTN1_ENST00000361833.2_Silent_p.Q1197Q|ASTN1_ENST00000424564.2_Silent_p.Q1197Q|ASTN1_ENST00000367657.3_Silent_p.Q1197Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1205					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCATAGTGCTGGTTATAGT	0.483																																																0			1											143	138	139					1																	176838036		2203	4300	6503	175104659	SO:0001819	synonymous_variant	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3615G>A	1.37:g.176838036C>T			175104659	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																					0.483	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		T	176838036	C	T	176838036	2	4	428	1	0	0	0	0	0	0	0	1	1064	796	28	2		2	ASTN1	1	176838036	Silent	SNP	C	TCGA-61-1741-01A-02W-0639-09	75381859	176838036	72412585	4	23562											
FSHR	2492	genome.wustl.edu	37	2	49244660	49244660	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr2:49244660C>G	ENST00000406846.2	-	4	461	c.342G>C	c.(340-342)gaG>gaC	p.E114D	FSHR_ENST00000346173.3_Missense_Mutation_p.E114D|FSHR_ENST00000304421.4_Missense_Mutation_p.E114D	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	114					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCTGGAAGGCCTCAGGGTTGA	0.393									Gonadal Dysgenesis, 46 XX																																							0			2											149	139	143					2																	49244660		2203	4300	6503	49098164	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.342G>C	2.37:g.49244660C>G	ENSP00000384708:p.Glu114Asp		49098164	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	3.697	-0.062328	0.07273	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.17	1.19	0.21007	.	0.315473	0.32802	N	0.005640	T	0.16896	0.0406	N	0.01242	-0.935	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.03493	-1.1031	9	.	.	.	.	3.8098	0.08792	0.2004:0.504:0.0:0.2956	.	114;114;114	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	D	114	ENSP00000384708:E114D;ENSP00000333908:E114D;ENSP00000306780:E114D;ENSP00000415504:E114D	.	E	-	3	2	FSHR	49098164	0.995000	0.38212	0.998000	0.56505	0.993000	0.82548	0.101000	0.15251	0.017000	0.15025	0.655000	0.94253	GAG		0.393	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			G	49244660	C	G	49244660	3	3	428	1	0	0	0	0	1	0	0	0	6073	680	24	3	1773	3	FSHR	2	49244660	Missense_Mutation	SNP	C	TCGA-61-1741-01A-02W-0639-09		49244660	193954713	5	23563											
LRRTM1	347730	genome.wustl.edu	37	2	80530448	80530448	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr2:80530448A>G	ENST00000295057.3	-	2	1153	c.497T>C	c.(496-498)cTg>cCg	p.L166P	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.L166P|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	166					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCGCATATGCAGCGTGGTGAG	0.617										HNSCC(69;0.2)																																						0			2											68	74	72					2																	80530448		2203	4300	6503	80383959	SO:0001583	missense	347730			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.497T>C	2.37:g.80530448A>G	ENSP00000295057:p.Leu166Pro		80383959	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307446	0.60305	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	4.57	4.57	0.56435	.	0.000000	0.64402	U	0.000005	D	0.93835	0.8028	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95603	0.8665	9	.	.	.	.	13.9153	0.63893	1.0:0.0:0.0:0.0	.	166	Q86UE6	LRRT1_HUMAN	P	166	ENSP00000295057:L166P;ENSP00000386646:L166P;ENSP00000415368:L166P;ENSP00000389473:L166P	.	L	-	2	0	LRRTM1	80383959	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.339000	0.96797	1.671000	0.50874	0.482000	0.46254	CTG		0.617	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		G	80530448	A	G	80530448	3	3	428	1	0	0	0	0	1	0	0	0	9039	188	7	4	1075	4	LRRTM1	2	80530448	Missense_Mutation	SNP	A	TCGA-61-1741-01A-02W-0639-09	31285788	80530448	162668925	6	23564											
DUSP2	1844	genome.wustl.edu	37	2	96810590	96810590	+	Silent	SNP	G	G	T	rs187607778		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr2:96810590G>T	ENST00000288943.4	-	2	505	c.420C>A	c.(418-420)ccC>ccA	p.P140P	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	140	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				AGCACAGATCGGGACAGCAGC	0.672																																																0			2						G		1,4257		0,1,2128	15	20	18		420	-8.6	0.4	2		18	5,8441		0,5,4218	no	coding-synonymous	DUSP2	NM_004418.3		0,6,6346	TT,TG,GG		0.0592,0.0235,0.0472		140/315	96810590	6,12698	2129	4223	6352	96174317	SO:0001819	synonymous_variant	1844			L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.420C>A	2.37:g.96810590G>T			96174317	Q53T45	Silent	SNP	ENST00000288943.4	37	CCDS2016.1																																																																																				0.672	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		T	96810590	G	T	96810590	2	4	428	1	0	0	0	0	0	0	0	1	4819	1103	39	3		3	DUSP2	2	96810590	Silent	SNP	G	TCGA-61-1741-01A-02W-0639-09	16280142	96810590	146388783	7	23565											
KBTBD8	84541	genome.wustl.edu	37	3	67054571	67054571	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr3:67054571G>A	ENST00000417314.2	+	3	1229	c.1180G>A	c.(1180-1182)Gca>Aca	p.A394T	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.A368T			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	394						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TAAAATGTATGCAATCGGAGG	0.438																																																0			3											177	169	172					3																	67054571		2203	4300	6503	67137261	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1180G>A	3.37:g.67054571G>A	ENSP00000401878:p.Ala394Thr		67137261	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882844	0.91740	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.79554	-1.28;-1.28	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	M	0.81239	2.535	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.90109	0.4190	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	394	Q8NFY9	KBTB8_HUMAN	T	368;394	ENSP00000295568:A368T;ENSP00000401878:A394T	.	A	+	1	0	KBTBD8	67137261	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.813000	0.99286	2.676000	0.91093	0.557000	0.71058	GCA		0.438	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		A	67054571	G	A	67054571	3	1	428	1	0	0	0	0	1	0	0	0	7999	1319	46	2	1190	2	KBTBD8	3	67054571	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09		67054571	130967859	8	23566											
NPY5R	4889	genome.wustl.edu	37	4	164272687	164272687	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr4:164272687A>T	ENST00000515560.1	+	4	2784	c.1262A>T	c.(1261-1263)aAt>aTt	p.N421I	NPY5R_ENST00000338566.3_Missense_Mutation_p.N421I|NPY5R_ENST00000506953.1_Missense_Mutation_p.N421I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	421					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTTGTCTTAATCCAATTCTA	0.328																																					Melanoma(139;1287 1774 9781 19750 25599)											0			4											110	110	110					4																	164272687		2202	4300	6502	164492137	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1262A>T	4.37:g.164272687A>T	ENSP00000423917:p.Asn421Ile		164492137	Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760220	0.69763	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	D;D;D	0.85702	-2.02;-2.02;-2.02	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	D	0.94108	0.8111	M	0.93420	3.415	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.95569	0.8636	10	0.87932	D	0	.	14.9133	0.70776	1.0:0.0:0.0:0.0	.	421	Q15761	NPY5R_HUMAN	I	421	ENSP00000339377:N421I;ENSP00000423917:N421I;ENSP00000423474:N421I	ENSP00000339377:N421I	N	+	2	0	NPY5R	164492137	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.876000	0.87215	1.981000	0.57761	0.377000	0.23210	AAT		0.328	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		T	164272687	A	T	164272687	3	4	428	1	0	0	0	0	1	0	0	0	10610	101	4	5	1264	5	NPY5R	4	164272687	Missense_Mutation	SNP	A	TCGA-61-1741-01A-02W-0639-09		164272687	26881589	9	23567											
PCDH1	5097	genome.wustl.edu	37	5	141243932	141243932	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr5:141243932T>C	ENST00000394536.3	-	3	2103	c.1964A>G	c.(1963-1965)aAc>aGc	p.N655S	PCDH1_ENST00000456271.1_Missense_Mutation_p.N643S|PCDH1_ENST00000287008.3_Missense_Mutation_p.N655S|PCDH1_ENST00000536585.1_Missense_Mutation_p.N633S|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AAAGTCACCGTTGTCCTGCTC	0.537																																					Ovarian(132;1609 1739 4190 14731 45037)											0			5											121	120	120					5																	141243932		2203	4300	6503	141224116	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1964A>G	5.37:g.141243932T>C	ENSP00000378043:p.Asn655Ser		141224116	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	t	4.057	0.008338	0.07912	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.60171	0.21;5.29;5.29;5.29;5.29	5.85	4.7	0.59300	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000038	T	0.37046	0.0989	N	0.16790	0.44	0.38936	D	0.958052	B;B	0.24092	0.016;0.097	B;B	0.25506	0.015;0.061	T	0.30238	-0.9985	10	0.30854	T	0.27	.	6.5656	0.22511	0.0:0.1681:0.0:0.8319	.	655;655	Q08174;Q08174-2	PCDH1_HUMAN;.	S	655;655;643;666;633	ENSP00000287008:N655S;ENSP00000378043:N655S;ENSP00000403497:N643S;ENSP00000350122:N666S;ENSP00000438825:N633S	ENSP00000287008:N655S	N	-	2	0	PCDH1	141224116	0.358000	0.24947	0.984000	0.44739	0.978000	0.69477	0.726000	0.25984	2.243000	0.73865	0.454000	0.30748	AAC		0.537	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		C	141243932	T	C	141243932	3	2	428	1	0	0	0	0	1	0	0	0	11506	1725	60	4	1845	4	PCDH1	5	141243932	Missense_Mutation	SNP	T	TCGA-61-1741-01A-02W-0639-09		141243932	39671328	10	23568											
DAXX	1616	genome.wustl.edu	37	6	33288657	33288657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr6:33288657G>A	ENST00000374542.5	-	3	1099	c.895C>T	c.(895-897)Cga>Tga	p.R299*	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Nonsense_Mutation_p.R299*|DAXX_ENST00000414083.2_Nonsense_Mutation_p.R224*	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	299	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGGCTGTGTCGGGCAGCTGCC	0.592			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0			6											85	74	78					6																	33288657		2203	4300	6503	33396635	SO:0001587	stop_gained	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.895C>T	6.37:g.33288657G>A	ENSP00000363668:p.Arg299*		33396635	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Nonsense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437385	0.96168	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	2.69	0.31865	.	0.118801	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4354	9.9436	0.41596	0.0:0.0:0.4992:0.5008	.	.	.	.	X	299;299;224	.	ENSP00000266000:R299X	R	-	1	2	DAXX	33396635	0.968000	0.33430	0.770000	0.31555	0.980000	0.70556	2.067000	0.41461	1.182000	0.42928	0.643000	0.83706	CGA		0.592	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			A	33288657	G	A	33288657	4	1	428	1	0	0	0	0	0	1	0	0	4243	1124	39	1	1351	1	DAXX	6	33288657	Nonsense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09		33288657	137826410	11	23569											
MDN1	23195	genome.wustl.edu	37	6	90384194	90384194	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr6:90384194G>T	ENST00000369393.3	-	79	12991	c.12876C>A	c.(12874-12876)caC>caA	p.H4292Q	MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.H4292Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4292					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCATGGCCAGGTGCTGCAGGC	0.647																																																0			6											23	24	24					6																	90384194		2203	4299	6502	90440915	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12876C>A	6.37:g.90384194G>T	ENSP00000358400:p.His4292Gln		90440915	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431778	0.25813	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02863	4.13;4.13	5.87	0.901	0.19284	.	0.337180	0.33092	N	0.005296	T	0.00637	0.0021	L	0.40543	1.245	0.24904	N	0.992088	B	0.12013	0.005	B	0.11329	0.006	T	0.48927	-0.8991	10	0.13853	T	0.58	.	2.3421	0.04263	0.3267:0.1055:0.4484:0.1194	.	4292	Q9NU22	MDN1_HUMAN	Q	4292	ENSP00000358400:H4292Q;ENSP00000413970:H4292Q	ENSP00000358400:H4292Q	H	-	3	2	MDN1	90440915	0.898000	0.30612	0.974000	0.42286	0.980000	0.70556	0.014000	0.13333	0.094000	0.17404	-0.140000	0.14226	CAC		0.647	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90384194	G	T	90384194	3	4	428	1	0	0	0	0	1	0	0	0	9415	1252	44	3	4010	3	MDN1	6	90384194	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09	57095537	90384194	80730873	12	23570											
COL28A1	340267	genome.wustl.edu	37	7	7480485	7480485	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr7:7480485T>G	ENST00000399429.3	-	21	1798	c.1658A>C	c.(1657-1659)gAa>gCa	p.E553A		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	553	Collagen-like 5.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTTCTTGCCTTCGTCACCCTA	0.448																																																0			7											142	134	137					7																	7480485		1844	4092	5936	7447010	SO:0001583	missense	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1658A>C	7.37:g.7480485T>G	ENSP00000382356:p.Glu553Ala		7447010	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240565	0.39598	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.92805	-3.11	4.09	1.6	0.23607	.	0.301944	0.27424	U	0.019429	D	0.85314	0.5668	N	0.03029	-0.43	0.28539	N	0.912207	B;D;B	0.57257	0.04;0.979;0.01	B;D;B	0.71414	0.011;0.973;0.013	T	0.78127	-0.2325	10	0.06625	T	0.88	-13.7964	8.3101	0.32066	0.0:0.0:0.3982:0.6018	.	553;553;553	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	A	553	ENSP00000382356:E553A	ENSP00000382347:E553A	E	-	2	0	COL28A1	7447010	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	0.875000	0.28079	0.343000	0.23821	0.455000	0.32223	GAA		0.448	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		G	7480485	T	G	7480485	3	3	428	1	0	0	0	0	1	0	0	0	3686	1783	62	5	1779	5	COL28A1	7	7480485	Missense_Mutation	SNP	T	TCGA-61-1741-01A-02W-0639-09		7480485	151658178	13	23571											
NPC1L1	29881	genome.wustl.edu	37	7	44578933	44578933	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr7:44578933T>C	ENST00000289547.4	-	2	1118	c.1063A>G	c.(1063-1065)Atc>Gtc	p.I355V	NPC1L1_ENST00000423141.1_Missense_Mutation_p.I355V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.I355V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.I355V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	355					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCACCAAGATGGTCAGAGGC	0.632																																																0			7											100	99	100					7																	44578933		2203	4300	6503	44545458	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1063A>G	7.37:g.44578933T>C	ENSP00000289547:p.Ile355Val		44545458	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	t	0.014	-1.578733	0.00879	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.05	-5.52	0.02560	.	0.355425	0.26935	N	0.021749	T	0.56499	0.1989	N	0.02775	-0.495	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.0	T	0.47661	-0.9100	10	0.02654	T	1	-23.2178	19.1431	0.93452	0.0:0.8644:0.0:0.1356	.	355;355;355;355	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	V	355	ENSP00000289547:I355V;ENSP00000370552:I355V;ENSP00000438033:I355V;ENSP00000404670:I355V	ENSP00000289547:I355V	I	-	1	0	NPC1L1	44545458	0.000000	0.05858	0.035000	0.18076	0.488000	0.33401	-2.064000	0.01387	-1.013000	0.03383	0.379000	0.24179	ATC		0.632	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		C	44578933	T	C	44578933	3	2	428	1	0	0	0	0	1	0	0	0	10571	1464	51	4	3092	4	NPC1L1	7	44578933	Missense_Mutation	SNP	T	TCGA-61-1741-01A-02W-0639-09	37098448	44578933	114559730	14	23572											
CYP51A1	1595	genome.wustl.edu	37	7	91746450	91746450	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr7:91746450G>A	ENST00000003100.8	-	9	1424	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.S315L	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	414					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	TTCTACCCATGAGTCTTTAAG	0.453																																					GBM(70;1100 1190 11592 25836 51397)											0			7											102	93	96					7																	91746450		2203	4300	6503	91584386	SO:0001583	missense	1595			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1259C>T	7.37:g.91746450G>A	ENSP00000003100:p.Ser420Leu		91584386	A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	ENST00000003100.8	37	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462632	0.43736	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723	T;T	0.65732	-0.17;-0.17	4.41	3.53	0.40419	.	0.426180	0.26007	N	0.026913	T	0.30792	0.0776	N	0.04724	-0.175	0.80722	D	1	B;P	0.37500	0.246;0.597	B;B	0.29353	0.064;0.101	T	0.14476	-1.0471	10	0.10636	T	0.68	.	9.2261	0.37407	0.0814:0.1463:0.7723:0.0	.	360;414	B3KRC6;Q16850	.;CP51A_HUMAN	L	420;360;315	ENSP00000003100:S420L;ENSP00000406757:S315L	ENSP00000003100:S420L	S	-	2	0	CYP51A1	91584386	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.327000	0.59247	1.200000	0.43188	0.460000	0.39030	TCA		0.453	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			A	91746450	G	A	91746450	3	1	428	1	0	0	0	0	1	0	0	0	4195	1294	45	2	278	2	CYP51A1	7	91746450	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09	47167517	91746450	67392213	15	23573											
OR2F1	26211	genome.wustl.edu	37	7	143657360	143657360	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr7:143657360C>T	ENST00000392899.1	+	1	334	c.297C>T	c.(295-297)gcC>gcT	p.A99A	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	99					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GCTGTGCAGCCCAGTTATTTT	0.522																																																0			7											163	150	155					7																	143657360		2203	4297	6500	143288293	SO:0001819	synonymous_variant	26211			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.297C>T	7.37:g.143657360C>T			143288293	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	CCDS5887.1																																																																																				0.522	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			T	143657360	C	T	143657360	2	4	428	1	0	0	0	0	0	0	0	1	10996	610	22	2		2	OR2F1	7	143657360	Silent	SNP	C	TCGA-61-1741-01A-02W-0639-09	51910910	143657360	15481303	16	23574											
ABCA1	19	genome.wustl.edu	37	9	107550766	107550766	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr9:107550766T>C	ENST00000374736.3	-	45	6404	c.6010A>G	c.(6010-6012)Aga>Gga	p.R2004G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2004	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACGTGTTCTCTCCCAGTCAAC	0.478																																																0			9											152	149	150					9																	107550766		2203	4300	6503	106590587	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6010A>G	9.37:g.107550766T>C	ENSP00000363868:p.Arg2004Gly		106590587	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288378	0.80803	.	.	ENSG00000165029	ENST00000374736	D	0.94184	-3.37	6.02	6.02	0.97574	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96442	0.8839	M	0.83312	2.635	0.80722	D	1	D	0.60160	0.987	D	0.67103	0.949	D	0.96812	0.9597	10	0.87932	D	0	.	13.2424	0.60004	0.0:0.0:0.1407:0.8593	.	2004	O95477	ABCA1_HUMAN	G	2004	ENSP00000363868:R2004G	ENSP00000363868:R2004G	R	-	1	2	ABCA1	106590587	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	4.281000	0.58965	2.311000	0.77944	0.529000	0.55759	AGA		0.478	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		C	107550766	T	C	107550766	3	2	428	1	0	0	0	0	1	0	0	0	28	1559	54	4	799	4	ABCA1	9	107550766	Missense_Mutation	SNP	T	TCGA-61-1741-01A-02W-0639-09		107550766	33662665	17	23575											
EPC1	80314	genome.wustl.edu	37	10	32580215	32580215	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr10:32580215G>C	ENST00000263062.8	-	6	1120	c.851C>G	c.(850-852)tCt>tGt	p.S284C	EPC1_ENST00000375110.2_Missense_Mutation_p.S234C|EPC1_ENST00000319778.6_Missense_Mutation_p.S284C	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	284					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CATAACCTCAGACATGATCTC	0.338																																																0			10											109	104	106					10																	32580215		2203	4300	6503	32620221	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.851C>G	10.37:g.32580215G>C	ENSP00000263062:p.Ser284Cys		32620221	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202564	0.79127	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.71817	-0.6;-0.6;-0.6	5.31	5.31	0.75309	.	0.048098	0.85682	D	0.000000	T	0.79616	0.4476	L	0.52573	1.65	0.51012	D	0.999909	D;D;D;D	0.65815	0.98;0.995;0.964;0.98	P;P;P;P	0.60789	0.775;0.794;0.879;0.775	T	0.79470	-0.1790	10	0.51188	T	0.08	-11.6742	19.3313	0.94291	0.0:0.0:1.0:0.0	.	284;234;284;284	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	C	234;284;284	ENSP00000364251:S234C;ENSP00000318559:S284C;ENSP00000263062:S284C	ENSP00000263062:S284C	S	-	2	0	EPC1	32620221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.123000	0.71614	2.654000	0.90174	0.467000	0.42956	TCT		0.338	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			C	32580215	G	C	32580215	3	2	428	1	0	0	0	0	1	0	0	0	5160	942	33	3	1699	3	EPC1	10	32580215	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09		32580215	102954532	18	23576											
KIF20B	9585	genome.wustl.edu	37	10	91497478	91497478	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr10:91497478G>T	ENST00000371728.3	+	20	2945	c.2880G>T	c.(2878-2880)aaG>aaT	p.K960N	KIF20B_ENST00000394289.2_Missense_Mutation_p.K960N|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.K990N|KIF20B_ENST00000260753.4_Missense_Mutation_p.K920N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	960					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGAGGAAAAGATCATGAAAT	0.299																																																0			10											59	63	62					10																	91497478		2192	4293	6485	91487458	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2880G>T	10.37:g.91497478G>T	ENSP00000360793:p.Lys960Asn		91487458	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	7.788	0.710972	0.15239	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.72505	-0.58;-0.6;-0.66;-0.59	5.8	3.95	0.45737	.	0.339214	0.25445	N	0.030630	T	0.65719	0.2718	L	0.50333	1.59	0.22240	N	0.999267	P;P	0.49783	0.883;0.928	B;P	0.45829	0.299;0.494	T	0.61501	-0.7050	10	0.72032	D	0.01	-3.3157	7.8601	0.29506	0.3344:0.0:0.6656:0.0	.	960;920	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	920;990;960;960	ENSP00000260753:K920N;ENSP00000411545:K990N;ENSP00000377830:K960N;ENSP00000360793:K960N	ENSP00000260753:K920N	K	+	3	2	KIF20B	91487458	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	0.523000	0.22925	1.454000	0.47793	0.591000	0.81541	AAG		0.299	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		T	91497478	G	T	91497478	3	4	428	1	0	0	0	0	1	0	0	0	8287	933	33	3	2834	3	KIF20B	10	91497478	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09	58917263	91497478	44037269	19	23577											
IGSF22	283284	genome.wustl.edu	37	11	18738373	18738373	+	Missense_Mutation	SNP	G	G	A	rs200509378		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr11:18738373G>A	ENST00000513874.1	-	10	1287	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	383								p.T383M(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AAGCGTGTGCGTCAGACCATC	0.527																																																2	Substitution - Missense(2)	kidney(2)	11						G	MET/THR	0,4134		0,0,2067	231	225	227		1148	4.2	0.8	11		227	6,8384		1,4,4190	yes	missense	IGSF22	NM_173588.3	81	1,4,6257	AA,AG,GG		0.0715,0.0,0.0479	probably-damaging	383/1327	18738373	6,12518	2067	4195	6262	18694949	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1148C>T	11.37:g.18738373G>A	ENSP00000421191:p.Thr383Met		18694949	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533924	0.64972	0.0	7.15E-4	ENSG00000179057	ENST00000513874	T	0.68624	-0.34	5.09	4.18	0.49190	.	0.491987	0.14951	U	0.288897	T	0.78310	0.4263	M	0.72894	2.215	0.25701	N	0.985584	D	0.76494	0.999	D	0.65773	0.938	T	0.67983	-0.5529	10	0.48119	T	0.1	.	11.4966	0.50413	0.0834:0.0:0.9166:0.0	.	383	D6RGV7	.	M	383	ENSP00000421191:T383M	ENSP00000322422:T383M	T	-	2	0	IGSF22	18694949	1.000000	0.71417	0.765000	0.31456	0.847000	0.48162	2.672000	0.46850	1.129000	0.42072	0.655000	0.94253	ACG		0.527	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		A	18738373	G	A	18738373	3	1	428	1	0	0	0	0	1	0	0	0	7600	1145	40	1	2888	1	IGSF22	11	18738373	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09		18738373	116268143	20	23578											
OR5M1	390168	genome.wustl.edu	37	11	56380730	56380730	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr11:56380730G>C	ENST00000526538.1	-	1	248	c.249C>G	c.(247-249)caC>caG	p.H83Q		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGAGGAAATTGTGCAGCATAT	0.453																																																0			11											148	141	143					11																	56380730		1912	4122	6034	56137306	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.249C>G	11.37:g.56380730G>C	ENSP00000435416:p.His83Gln		56137306	Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	G	4.156	0.027352	0.08054	.	.	ENSG00000255012	ENST00000526538	T	0.01947	4.54	3.71	-5.31	0.02730	GPCR, rhodopsin-like superfamily (1);	1.696830	0.03812	N	0.266084	T	0.01156	0.0038	N	0.02275	-0.615	0.09310	N	1	B	0.20261	0.043	B	0.20184	0.028	T	0.48906	-0.8993	10	0.35671	T	0.21	-9.2812	7.6514	0.28350	0.5708:0.1199:0.3093:0.0	.	83	Q8NGP8	OR5M1_HUMAN	Q	83	ENSP00000435416:H83Q	ENSP00000435416:H83Q	H	-	3	2	OR5M1	56137306	0.000000	0.05858	0.000000	0.03702	0.808000	0.45660	-4.712000	0.00195	-1.119000	0.02958	0.280000	0.19369	CAC		0.453	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		C	56380730	G	C	56380730	3	2	428	1	0	0	0	0	1	0	0	0	11172	1368	48	3	702	3	OR5M1	11	56380730	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09	37642357	56380730	78625786	21	23579											
PGA3	643834	genome.wustl.edu	37	11	60975042	60975042	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr11:60975042C>T	ENST00000325558.6	+	4	596	c.411C>T	c.(409-411)taC>taT	p.Y137Y	PGA3_ENST00000543125.1_5'Flank	NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	137					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						CCATCACCTACGGCACCGGCA	0.587																																																0			11											1	1	1					11																	60975042		952	1315	2267	60731618	SO:0001819	synonymous_variant	643834			AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.411C>T	11.37:g.60975042C>T			60731618	A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	Silent	SNP	ENST00000325558.6	37	CCDS31574.1																																																																																				0.587	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397955.2	NM_001079807		T	60975042	C	T	60975042	2	4	428	1	0	0	0	0	0	0	0	1	11771	547	19	1		1	PGA3	11	60975042	Silent	SNP	C	TCGA-61-1741-01A-02W-0639-09	4594312	60975042	74031474	22	23580											
UCP3	7352	genome.wustl.edu	37	11	73717372	73717372	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr11:73717372C>T	ENST00000314032.4	-	3	731	c.179G>A	c.(178-180)gGc>gAc	p.G60D	UCP3_ENST00000426995.2_Missense_Mutation_p.G60D|UCP3_ENST00000348534.4_Missense_Mutation_p.G60D	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	60					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GCCCAGCACGCCACGGTACTG	0.657																																																0			11											21	22	22					11																	73717372		2200	4290	6490	73395020	SO:0001583	missense	7352			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.179G>A	11.37:g.73717372C>T	ENSP00000323740:p.Gly60Asp		73395020	O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740431	0.89573	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995;ENST00000544614	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.31	5.31	0.75309	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93986	0.8074	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96140	0.9099	10	0.87932	D	0	-10.381	18.5737	0.91147	0.0:1.0:0.0:0.0	.	60	P55916	UCP3_HUMAN	D	60	ENSP00000323740:G60D;ENSP00000343615:G60D;ENSP00000392143:G60D;ENSP00000445279:G60D	ENSP00000323740:G60D	G	-	2	0	UCP3	73395020	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	7.769000	0.85360	2.498000	0.84270	0.561000	0.74099	GGC		0.657	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		T	73717372	C	T	73717372	3	4	428	1	0	0	0	0	1	0	0	0	16932	739	26	2	783	2	UCP3	11	73717372	Missense_Mutation	SNP	C	TCGA-61-1741-01A-02W-0639-09	12742330	73717372	61289144	23	23581											
CHD4	1108	genome.wustl.edu	37	12	6701583	6701583	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr12:6701583C>T	ENST00000357008.2	-	19	3087	c.2924G>A	c.(2923-2925)cGt>cAt	p.R975H	CHD4_ENST00000544040.1_Missense_Mutation_p.R968H|CHD4_ENST00000544484.1_Missense_Mutation_p.R972H|CHD4_ENST00000309577.6_Missense_Mutation_p.R975H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	975					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R975H(10)		central_nervous_system(2)	2						CAGCTCCACACGCACAATTAG	0.517																																					Colon(32;586 792 4568 16848 45314)											10	Substitution - Missense(10)	endometrium(8)|large_intestine(2)	12											88	82	84					12																	6701583		2203	4300	6503	6571844	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2924G>A	12.37:g.6701583C>T	ENSP00000349508:p.Arg975His		6571844	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253892	0.95336	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.4	5.4	0.78164	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	L	0.37630	1.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.997;1.0;0.994	D	0.83812	0.0242	10	0.87932	D	0	.	19.1812	0.93623	0.0:1.0:0.0:0.0	.	975;975;968	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	972;968;975;975;949	ENSP00000440392:R972H;ENSP00000440542:R968H;ENSP00000312419:R975H;ENSP00000349508:R975H	ENSP00000312419:R975H	R	-	2	0	CHD4	6571844	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.743000	0.85020	2.530000	0.85305	0.563000	0.77884	CGT		0.517	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		T	6701583	C	T	6701583	3	4	428	1	0	0	0	0	1	0	0	0	3327	536	19	1	2902	1	CHD4	12	6701583	Missense_Mutation	SNP	C	TCGA-61-1741-01A-02W-0639-09		6701583	127150312	24	23582											
GLS2	27165	genome.wustl.edu	37	12	56868425	56868425	+	Missense_Mutation	SNP	G	G	A	rs150956694		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr12:56868425G>A	ENST00000311966.4	-	12	1405	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	376					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	ACTCTCGCCTGTGATGGGGCA	0.547																																																0			12						G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	137	123	128		1127	5.7	1	12	dbSNP_134	128	0,8600		0,0,4300	no	missense	GLS2	NM_013267.2	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	376/603	56868425	1,13005	2203	4300	6503	55154692	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1127C>T	12.37:g.56868425G>A	ENSP00000310447:p.Thr376Ile		55154692	B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313728	0.95655	2.27E-4	0.0	ENSG00000135423	ENST00000311966	T	0.49720	0.77	5.69	5.69	0.88448	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	M	0.93638	3.44	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.82554	-0.0399	10	0.66056	D	0.02	-14.044	18.9754	0.92733	0.0:0.0:1.0:0.0	.	376	Q9UI32	GLSL_HUMAN	I	376	ENSP00000310447:T376I	ENSP00000310447:T376I	T	-	2	0	GLS2	55154692	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.804000	0.99143	2.857000	0.98124	0.650000	0.86243	ACA		0.547	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		A	56868425	G	A	56868425	3	1	428	1	0	0	0	0	1	0	0	0	6464	1377	48	2	709	2	GLS2	12	56868425	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09	50166842	56868425	76983470	25	23583											
SLC16A7	9194	genome.wustl.edu	37	12	60165106	60165106	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr12:60165106C>T	ENST00000261187.4	+	3	488	c.324C>T	c.(322-324)agC>agT	p.S108S	SLC16A7_ENST00000552024.1_Silent_p.S108S|SLC16A7_ENST00000543448.1_Silent_p.S9S|SLC16A7_ENST00000547379.1_Silent_p.S108S|SLC16A7_ENST00000552432.1_Silent_p.S108S	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	108					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTAGTAGCAGCGTGGTACAGC	0.433																																																0			12											249	217	227					12																	60165106		2203	4300	6503	58451373	SO:0001819	synonymous_variant	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.324C>T	12.37:g.60165106C>T			58451373	Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	CCDS8961.1																																																																																				0.433	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		T	60165106	C	T	60165106	2	4	428	1	0	0	0	0	0	0	0	1	14416	767	27	1		1	SLC16A7	12	60165106	Silent	SNP	C	TCGA-61-1741-01A-02W-0639-09	3296681	60165106	73686789	26	23584											
COL4A2	1284	genome.wustl.edu	37	13	111138036	111138036	+	Silent	SNP	A	A	G			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr13:111138036A>G	ENST00000360467.5	+	34	3366	c.3060A>G	c.(3058-3060)tcA>tcG	p.S1020S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1020	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGCTGTCAGGAATCCCTG	0.612																																																0			13											40	48	46					13																	111138036		1878	4107	5985	109936037	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3060A>G	13.37:g.111138036A>G			109936037	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				0.612	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		G	111138036	A	G	111138036	2	3	428	1	0	0	0	0	0	0	0	1	3690	175	7	4		4	COL4A2	13	111138036	Silent	SNP	A	TCGA-61-1741-01A-02W-0639-09		111138036	4031842	27	23585											
DIO3	1735	genome.wustl.edu	37	14	102028377	102028377	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr14:102028377C>T	ENST00000510508.4	+	1	690	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	DIO3_ENST00000359323.3_Missense_Mutation_p.R156C|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	182					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CGCCTTCCAGCGCCTGGTCAC	0.617																																																0			14											39	45	43					14																	102028377		2073	4188	6261	101098130	SO:0001583	missense	1735			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.544C>T	14.37:g.102028377C>T	ENSP00000427336:p.Arg182Cys		101098130	G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582417	0.86748	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.38560	1.13;1.13	3.51	3.51	0.40186	Thioredoxin-like fold (1);	.	.	.	.	T	0.66157	0.2761	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.74306	-0.3708	9	0.87932	D	0	.	14.2065	0.65737	0.0:1.0:0.0:0.0	.	156	P55073	IOD3_HUMAN	C	156;182	ENSP00000352273:R156C;ENSP00000427336:R182C	ENSP00000352273:R182C	R	+	1	0	DIO3;AL049836.1	101098130	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.725000	0.68507	1.799000	0.52666	0.462000	0.41574	CGC		0.617	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		T	102028377	C	T	102028377	3	4	428	1	0	0	0	0	1	0	0	0	4526	768	27	1	546	1	DIO3	14	102028377	Missense_Mutation	SNP	C	TCGA-61-1741-01A-02W-0639-09		102028377	5321163	28	23586											
CORO7	79585	genome.wustl.edu	37	16	4463379	4463379	+	Silent	SNP	T	T	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr16:4463379T>A	ENST00000251166.4	-	2	232	c.87A>T	c.(85-87)ggA>ggT	p.G29G	CORO7-PAM16_ENST00000572467.1_Silent_p.G29G|CORO7_ENST00000537233.2_Silent_p.G29G|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Silent_p.G29G|CORO7_ENST00000539968.1_5'UTR|CORO7_ENST00000577144.1_5'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	29					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AAGGGGCGGTTCCTGCTCGAA	0.507																																																0			16											94	81	85					16																	4463379		2195	4298	6493	4403380	SO:0001819	synonymous_variant	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.87A>T	16.37:g.4463379T>A			4403380	B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	CCDS10513.1																																																																																				0.507	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		A	4463379	T	A	4463379	2	1	428	1	0	0	0	0	0	0	0	1	3759	1770	62	5		5	CORO7	16	4463379	Silent	SNP	T	TCGA-61-1741-01A-02W-0639-09		4463379	85891374	29	23587											
TP53	7157	genome.wustl.edu	37	17	7577571	7577571	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr17:7577571A>T	ENST00000269305.4	-	7	899	c.710T>A	c.(709-711)aTg>aAg	p.M237K	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.M237K|TP53_ENST00000445888.2_Missense_Mutation_p.M237K|TP53_ENST00000413465.2_Missense_Mutation_p.M237K|TP53_ENST00000455263.2_Missense_Mutation_p.M237K|TP53_ENST00000359597.4_Missense_Mutation_p.M237K	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237K(11)|p.0?(8)|p.?(5)|p.M237_N239delMCN(4)|p.M237R(3)|p.M237T(2)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144K(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233_C242del10(1)|p.M237fs*1(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)	ACTGTTACACATGTAGTTGTA	0.572		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"	43	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Unknown(5)	ovary(6)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(4)|endometrium(4)|bone(4)|upper_aerodigestive_tract(3)|lung(3)|breast(3)|central_nervous_system(2)|pancreas(2)|stomach(1)|urinary_tract(1)|prostate(1)	17											130	102	111					17																	7577571		2203	4300	6503	7518296	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.710T>A	17.37:g.7577571A>T	ENSP00000269305:p.Met237Lys		7518296	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	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483121	0.84747	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.09	4.09	0.47781	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	0.99822	0.9921	M	0.91300	3.195	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.927;1.0;1.0;0.998;1.0	D;P;D;D;D;D	0.97110	0.999;0.754;1.0;1.0;0.999;1.0	D	0.96819	0.9602	10	0.87932	D	0	-32.6033	11.6823	0.51466	1.0:0.0:0.0:0.0	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	K	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237K;ENSP00000352610:M237K;ENSP00000269305:M237K;ENSP00000398846:M237K;ENSP00000391127:M237K;ENSP00000391478:M237K;ENSP00000425104:M105K;ENSP00000423862:M144K	ENSP00000269305:M237K	M	-	2	0	TP53	7518296	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.021000	0.93673	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577571	A	T	7577571	3	4	428	1	0	0	0	0	1	0	0	0	16381	217	8	5	580	5	TP53	17	7577571	Missense_Mutation	SNP	A	TCGA-61-1741-01A-02W-0639-09		7577571	73617639	30	23588											
PALM	5064	genome.wustl.edu	37	19	746627	746627	+	Missense_Mutation	SNP	C	C	T	rs370222652		TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr19:746627C>T	ENST00000338448.5	+	9	1023	c.977C>T	c.(976-978)gCg>gTg	p.A326V	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.A282V	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	326					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACCATCACGGCGGAGCTGGTG	0.637																																																0			19						C	VAL/ALA,VAL/ALA	0,4402		0,0,2201	38	31	33		845,977	4.2	0.9	19		33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PALM	NM_001040134.1,NM_002579.2	64,64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	282/344,326/388	746627	1,13001	2201	4300	6501	697627	SO:0001583	missense	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.977C>T	19.37:g.746627C>T	ENSP00000341911:p.Ala326Val		697627	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661331	0.88154	0.0	1.16E-4	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.32988	1.43;1.43	4.19	4.19	0.49359	.	0.109676	0.64402	D	0.000009	T	0.58892	0.2154	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67345	-0.5694	10	0.87932	D	0	-26.7302	15.6583	0.77162	0.0:1.0:0.0:0.0	.	282;326	O75781-2;O75781	.;PALM_HUMAN	V	326;282;191	ENSP00000341911:A326V;ENSP00000264560:A282V	ENSP00000264560:A282V	A	+	2	0	PALM	697627	1.000000	0.71417	0.908000	0.35775	0.607000	0.37147	7.209000	0.77916	2.154000	0.67381	0.462000	0.41574	GCG		0.637	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		T	746627	C	T	746627	3	4	428	1	0	0	0	0	1	0	0	0	11408	768	27	1	1011	1	PALM	19	746627	Missense_Mutation	SNP	C	TCGA-61-1741-01A-02W-0639-09		746627	58382356	31	23589											
ZNF574	64763	genome.wustl.edu	37	19	42584419	42584419	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr19:42584419G>C	ENST00000600245.1	+	2	2316	c.1661G>C	c.(1660-1662)gGg>gCg	p.G554A	ZNF574_ENST00000359044.4_Missense_Mutation_p.G554A|ZNF574_ENST00000222339.7_Missense_Mutation_p.G644A|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TACCGGTGTGGGGACTGTGGC	0.652																																																0			19											87	91	90					19																	42584419		2203	4300	6503	47276259	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1661G>C	19.37:g.42584419G>C	ENSP00000469029:p.Gly554Ala		47276259	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369674	0.24771	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.17854	2.25;2.25	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.307523	0.30658	N	0.009152	T	0.10252	0.0251	N	0.04275	-0.24	0.37314	D	0.909243	P;P	0.46859	0.649;0.885	B;P	0.48189	0.353;0.57	T	0.23940	-1.0174	10	0.27082	T	0.32	-24.9683	8.0305	0.30461	0.1742:0.0:0.8258:0.0	.	554;643	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	A	644;554;161	ENSP00000222339:G644A;ENSP00000351939:G554A	ENSP00000222339:G644A	G	+	2	0	ZNF574	47276259	0.000000	0.05858	1.000000	0.80357	0.313000	0.28021	0.674000	0.25218	2.418000	0.82041	0.650000	0.86243	GGG		0.652	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		C	42584419	G	C	42584419	3	2	428	1	0	0	0	0	1	0	0	0	18006	1232	43	3	1663	3	ZNF574	19	42584419	Missense_Mutation	SNP	G	TCGA-61-1741-01A-02W-0639-09	41837792	42584419	16544564	32	23590											
LILRA4	23547	genome.wustl.edu	37	19	54849434	54849434	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr19:54849434C>A	ENST00000291759.4	-	4	484	c.428G>T	c.(427-429)tGt>tTt	p.C143F	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	143	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGTGAGGCACACCGGAGGGT	0.572																																																0			19											60	60	60					19																	54849434		2203	4300	6503	59541246	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.428G>T	19.37:g.54849434C>A	ENSP00000291759:p.Cys143Phe		59541246	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	7.303	0.613400	0.14066	.	.	ENSG00000239961	ENST00000291759	T	0.33438	1.41	2.65	1.6	0.23607	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	T	0.64692	0.2621	H	0.98507	4.25	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56523	-0.7965	10	0.87932	D	0	.	5.4466	0.16539	0.0:0.8381:0.0:0.1619	.	143	P59901	LIRA4_HUMAN	F	143	ENSP00000291759:C143F	ENSP00000291759:C143F	C	-	2	0	LILRA4	59541246	0.489000	0.26004	0.021000	0.16686	0.013000	0.08279	0.806000	0.27126	0.680000	0.31366	0.563000	0.77884	TGT		0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		A	54849434	C	A	54849434	3	1	428	1	0	0	0	0	1	0	0	0	8787	478	17	3	1091	3	LILRA4	19	54849434	Missense_Mutation	SNP	C	TCGA-61-1741-01A-02W-0639-09	12265015	54849434	4279549	33	23591											
DSTN	11034	genome.wustl.edu	37	20	17581545	17581545	+	Silent	SNP	T	T	C			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chr20:17581545T>C	ENST00000246069.7	+	2	512	c.166T>C	c.(166-168)Ttg>Ctg	p.L56L	DSTN_ENST00000474024.1_Silent_p.L39L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	56	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CAAAGAGATCTTGGTTGGAGA	0.393																																																0			20											138	129	132					20																	17581545		2203	4300	6503	17529545	SO:0001819	synonymous_variant	11034			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.166T>C	20.37:g.17581545T>C			17529545	B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Silent	SNP	ENST00000246069.7	37	CCDS13127.1																																																																																				0.393	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		C	17581545	T	C	17581545	2	2	428	1	0	0	0	0	0	0	0	1	4784	1606	56	4		4	DSTN	20	17581545	Silent	SNP	T	TCGA-61-1741-01A-02W-0639-09		17581545	45443975	34	23592											
POLA1	5422	genome.wustl.edu	37	X	24767067	24767067	+	Silent	SNP	C	C	T			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chrX:24767067C>T	ENST00000379059.3	+	26	2919	c.2904C>T	c.(2902-2904)taC>taT	p.Y968Y	POLA1_ENST00000379068.3_Silent_p.Y974Y	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	968					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.Y968Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GCAGATTTTACGCCAAACCAC	0.423																																																1	Substitution - coding silent(1)	endometrium(1)	X											139	110	120					X																	24767067		2203	4300	6503	24676988	SO:0001819	synonymous_variant	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2904C>T	X.37:g.24767067C>T			24676988	Q86UQ7	Silent	SNP	ENST00000379059.3	37	CCDS14214.1																																																																																				0.423	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		T	24767067	C	T	24767067	2	4	428	1	0	0	0	0	0	0	0	1	12187	547	19	1		1	POLA1	23	24767067	Silent	SNP	C	TCGA-61-1741-01A-02W-0639-09		24767067	130503493	35	23593											
PCDH19	57526	genome.wustl.edu	37	X	99551361	99551361	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1741-01A-02W-0639-09	TCGA-61-1741-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d688d466-6907-4612-947f-d845b233f8f6	b51b5764-87bc-447e-b99b-dc000e2d1239	g.chrX:99551361C>A	ENST00000373034.4	-	6	5036	c.3361G>T	c.(3361-3363)Gtc>Ttc	p.V1121F	PCDH19_ENST00000420881.2_Missense_Mutation_p.V1073F|PCDH19_ENST00000255531.7_Missense_Mutation_p.V1074F|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1121					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCATGCATGACTTTCTCGCTA	0.542																																																0			X											127	118	121					X																	99551361		2031	4185	6216	99438017	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3361G>T	X.37:g.99551361C>A	ENSP00000362125:p.Val1121Phe		99438017	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433127	0.25813	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55413	0.52;0.57;0.52	5.52	3.73	0.42828	.	0.194003	0.44902	D	0.000412	T	0.32133	0.0819	N	0.24115	0.695	0.39588	D	0.969533	P;B;B	0.40476	0.718;0.372;0.255	B;B;B	0.30782	0.12;0.088;0.041	T	0.29549	-1.0008	10	0.72032	D	0.01	.	9.169	0.37069	0.0:0.7082:0.0:0.2918	.	1121;1074;1073	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	F	1073;1121;1074	ENSP00000400327:V1073F;ENSP00000362125:V1121F;ENSP00000255531:V1074F	ENSP00000255531:V1074F	V	-	1	0	PCDH19	99438017	0.999000	0.42202	0.982000	0.44146	0.965000	0.64279	0.981000	0.29526	1.095000	0.41419	0.600000	0.82982	GTC		0.542	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		A	99551361	C	A	99551361	3	1	428	1	0	0	0	0	1	0	0	0	11514	565	20	3	89	3	PCDH19	23	99551361	Missense_Mutation	SNP	C	TCGA-61-1741-01A-02W-0639-09	74784294	99551361	55719199	36	23594											
LUZP1	7798	genome.wustl.edu	37	1	23419339	23419339	+	Silent	SNP	T	T	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:23419339T>G	ENST00000302291.4	-	4	2217	c.1416A>C	c.(1414-1416)tcA>tcC	p.S472S	LUZP1_ENST00000374623.3_Silent_p.S472S|LUZP1_ENST00000418342.1_Silent_p.S472S|LUZP1_ENST00000314174.5_Silent_p.S472S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	472					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GACTCAGCACTGAGGGCTGCT	0.577																																																0			1											126	131	130					1																	23419339		2203	4300	6503	23291926	SO:0001819	synonymous_variant	7798			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1416A>C	1.37:g.23419339T>G			23291926	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	CCDS30628.1																																																																																				0.577	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		G	23419339	T	G	23419339	2	3	429	1	0	0	0	0	0	0	0	1	9086	1567	55	5		5	LUZP1	1	23419339	Silent	SNP	T	TCGA-61-1895-01A-01W-0639-09		23419339	225831282	1	23595											
EPB41	2035	genome.wustl.edu	37	1	29391646	29391646	+	Missense_Mutation	SNP	T	T	A	rs141501852		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:29391646T>A	ENST00000343067.4	+	16	2287	c.2160T>A	c.(2158-2160)aaT>aaA	p.N720K	EPB41_ENST00000373798.1_Missense_Mutation_p.N720K|EPB41_ENST00000373797.1_Missense_Mutation_p.N706K|EPB41_ENST00000373800.3_Missense_Mutation_p.N478K|EPB41_ENST00000398863.2_Missense_Mutation_p.N666K|EPB41_ENST00000356093.2_Missense_Mutation_p.N687K|EPB41_ENST00000347529.3_Missense_Mutation_p.N631K|EPB41_ENST00000349460.4_Missense_Mutation_p.N497K	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	720	C-terminal (CTD).				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTAACATCAATGGGCAAATCC	0.413																																																0			1											92	83	86					1																	29391646		2203	4300	6503	29264233	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2160T>A	1.37:g.29391646T>A	ENSP00000345259:p.Asn720Lys		29264233	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678853	0.68042	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;T;D;D	0.84589	-1.76;-1.76;-1.78;-1.74;-1.73;-1.47;-1.76;-1.87	5.99	2.43	0.29744	.	0.336904	0.32593	N	0.005886	D	0.87446	0.6179	L	0.54323	1.7	0.58432	D	0.999999	B;D;P;D;D;D;D;D;P	0.89917	0.112;0.977;0.892;0.999;1.0;0.996;1.0;0.997;0.93	B;P;P;D;D;P;D;D;P	0.91635	0.05;0.876;0.621;0.977;0.999;0.893;0.986;0.991;0.548	T	0.81924	-0.0710	10	0.16896	T	0.51	.	8.7332	0.34512	0.0:0.3123:0.0:0.6877	.	560;666;720;687;706;683;631;478;497	E9PEX0;E9PEW9;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.;.	K	683;720;687;666;560;706;497;478;631;720;706	ENSP00000345259:N720K;ENSP00000348397:N687K;ENSP00000381839:N666K;ENSP00000317597:N497K;ENSP00000362906:N478K;ENSP00000290100:N631K;ENSP00000362904:N720K;ENSP00000362903:N706K	ENSP00000345259:N720K	N	+	3	2	EPB41	29264233	0.990000	0.36364	1.000000	0.80357	0.967000	0.64934	0.219000	0.17641	0.169000	0.19679	-0.290000	0.09829	AAT		0.413	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		A	29391646	T	A	29391646	3	1	429	1	0	0	0	0	1	0	0	0	5151	1461	51	5	2218	5	EPB41	1	29391646	Missense_Mutation	SNP	T	TCGA-61-1895-01A-01W-0639-09	5972307	29391646	219858975	2	23596											
SF3B4	10262	genome.wustl.edu	37	1	149899095	149899096	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:149899095_149899096insGT	ENST00000271628.8	-	2	709_710	c.125_126insAC	c.(124-126)accfs	p.T42fs	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	42	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TTGGCATGTGGGTGTTGACTAC	0.545																																																0			1																																								148165720	SO:0001589	frameshift_variant	10262			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"RNA binding motif (RRM) containing"	10771	protein-coding gene	gene with protein product		605593	"splicing factor 3b, subunit 4, 49kD"			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.124_125dupAC	1.37:g.149899098_149899099dupGT	ENSP00000271628:p.Thr42fs		148165719	Q5SZ63	Frame_Shift_Ins	INS	ENST00000271628.8	37	CCDS941.1																																																																																				0.545	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		GT	149899096	-	GT	149899095	7	5	429	1	0	1	1	0	0	0	0	0	14156	1219	43	0	1168	0	SF3B4	1	149899095	Frame_Shift_Ins	INS	-	TCGA-61-1895-01A-01W-0639-09	120507449	149899095	99351526	3	23597											
RFWD2	64326	genome.wustl.edu	37	1	175958601	175958609	+	In_Frame_Del	DEL	AGTGGACAC	AGTGGACAC	-			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	AGTGGACAC	AGTGGACAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:175958601_175958609delAGTGGACAC	ENST00000367669.3	-	16	2250_2258	c.1736_1744delGTGTCCACT	c.(1735-1746)tgtgtccactac>tac	p.CVH579del	RFWD2_ENST00000308769.8_In_Frame_Del_p.CVH555del	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	579					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.V580V(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGATCATAGTAGTGGACACAGTGATCTAA	0.33																																					Ovarian(134;1413 1765 5706 35534 51541)											1	Substitution - coding silent(1)	lung(1)	1																																								174225232	SO:0001651	inframe_deletion	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1736_1744delGTGTCCACT	1.37:g.175958601_175958609delAGTGGACAC	ENSP00000356641:p.Cys579_His581del		174225224	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	In_Frame_Del	DEL	ENST00000367669.3	37	CCDS30944.1																																																																																				0.33	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		-	175958609	AGTGGACAC	-	175958601	7	5	429	1	0	1	0	1	0	0	0	0	13263	420	15	0	471	0	RFWD2	1	175958601	In_Frame_Del	DEL	AGTGGACAC	TCGA-61-1895-01A-01W-0639-09	26059506	175958601	73292020	4	23598											
IGFN1	91156	genome.wustl.edu	37	1	201182738	201182738	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:201182738A>G	ENST00000335211.4	+	12	8847	c.8717A>G	c.(8716-8718)aAg>aGg	p.K2906R	IGFN1_ENST00000451870.2_Missense_Mutation_p.K449R|IGFN1_ENST00000295591.8_Missense_Mutation_p.K66R	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	449						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTTTCTCCAAGGATGCCCAA	0.572																																																0			1											68	63	65					1																	201182738		2203	4300	6503	199449361	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8717A>G	1.37:g.201182738A>G	ENSP00000334714:p.Lys2906Arg		199449361	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168546	0.38315	.	.	ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591	T;T;T	0.61742	0.67;0.08;0.74	3.01	-0.879	0.10613	.	1.201730	0.06830	U	0.793847	T	0.29620	0.0739	N	0.08118	0	0.09310	N	1	B	0.21606	0.058	B	0.27500	0.08	T	0.15925	-1.0420	10	0.12103	T	0.63	.	0.5455	0.00653	0.3672:0.2965:0.1538:0.1824	.	2906	F8WAI1	.	R	2906;449;66	ENSP00000334714:K2906R;ENSP00000398386:K449R;ENSP00000295591:K66R	ENSP00000295591:K66R	K	+	2	0	IGFN1	199449361	0.024000	0.19004	0.001000	0.08648	0.212000	0.24457	0.069000	0.14552	-0.443000	0.07180	-0.669000	0.03829	AAG		0.572	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		G	201182738	A	G	201182738	3	3	429	1	0	0	0	0	1	0	0	0	7590	72	3	4	8759	4	IGFN1	1	201182738	Missense_Mutation	SNP	A	TCGA-61-1895-01A-01W-0639-09	25224137	201182738	48067883	5	23599											
APOB	338	genome.wustl.edu	37	2	21258548	21258548	+	Silent	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:21258548G>A	ENST00000233242.1	-	7	853	c.726C>T	c.(724-726)agC>agT	p.S242S	APOB_ENST00000399256.4_Silent_p.S242S	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	242	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAGGACTGGCTGCTGCTGA	0.488																																																0			2											98	84	89					2																	21258548		2203	4300	6503	21112053	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.726C>T	2.37:g.21258548G>A			21112053	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21258548	G	A	21258548	2	1	429	1	0	0	0	0	0	0	0	1	785	1194	42	2		2	APOB	2	21258548	Silent	SNP	G	TCGA-61-1895-01A-01W-0639-09		21258548	221940825	6	23600											
LCLAT1	253558	genome.wustl.edu	37	2	30863473	30863473	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:30863473G>C	ENST00000309052.4	+	7	1442	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N	LCLAT1_ENST00000379509.3_Missense_Mutation_p.K373N|LCLAT1_ENST00000540623.1_Missense_Mutation_p.K373N|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	411					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TAAATTCAAAGAAAAATGAGT	0.343																																																0			2											56	58	57					2																	30863473		2185	4294	6479	30716977	SO:0001583	missense	0			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1233G>C	2.37:g.30863473G>C	ENSP00000310551:p.Lys411Asn		30716977	A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	5.267	0.234686	0.09969	.	.	ENSG00000172954	ENST00000379509;ENST00000309052;ENST00000540623	T;T;T	0.34859	1.44;1.34;1.44	6.03	2.31	0.28768	.	0.559273	0.20629	N	0.088629	T	0.20901	0.0503	N	0.24115	0.695	0.29553	N	0.851244	B	0.32245	0.361	B	0.29942	0.109	T	0.12915	-1.0529	10	0.66056	D	0.02	-15.5975	5.5046	0.16846	0.3402:0.0:0.5362:0.1236	.	411	Q6UWP7	LCLT1_HUMAN	N	373;411;373	ENSP00000368823:K373N;ENSP00000310551:K411N;ENSP00000442857:K373N	ENSP00000310551:K411N	K	+	3	2	LCLAT1	30716977	0.811000	0.29063	0.524000	0.27887	0.006000	0.05464	0.994000	0.29693	0.158000	0.19367	-0.262000	0.10625	AAG		0.343	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		C	30863473	G	C	30863473	3	2	429	1	0	0	0	0	1	0	0	0	8677	933	33	3	1255	3	LCLAT1	2	30863473	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	9604925	30863473	212335900	7	23601											
RANBP2	5903	genome.wustl.edu	37	2	109381770	109381770	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:109381770G>T	ENST00000283195.6	+	20	4901	c.4775G>T	c.(4774-4776)aGc>aTc	p.S1592I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1592					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAGAGACAAGCAAGGCTCCA	0.448																																																0			2											135	138	137					2																	109381770		2203	4300	6503	108748202	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4775G>T	2.37:g.109381770G>T	ENSP00000283195:p.Ser1592Ile		108748202	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	g	14.75	2.628054	0.46944	.	.	ENSG00000153201	ENST00000283195	T	0.29397	1.57	4.78	0.665	0.17896	.	.	.	.	.	T	0.20251	0.0487	L	0.29908	0.895	0.22305	N	0.999213	B	0.26318	0.146	B	0.24701	0.055	T	0.21621	-1.0240	9	0.35671	T	0.21	-4.842	7.7719	0.29012	0.1525:0.2488:0.5987:0.0	.	1592	P49792	RBP2_HUMAN	I	1592	ENSP00000283195:S1592I	ENSP00000283195:S1592I	S	+	2	0	RANBP2	108748202	0.000000	0.05858	0.994000	0.49952	0.816000	0.46133	-0.071000	0.11505	0.135000	0.18707	-0.150000	0.13652	AGC		0.448	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		T	109381770	G	T	109381770	3	4	429	1	0	0	0	0	1	0	0	0	13031	971	34	3	4853	3	RANBP2	2	109381770	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	78518297	109381770	133817603	8	23602											
RAB3GAP1	22930	genome.wustl.edu	37	2	135911447	135911447	+	Splice_Site	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:135911447G>T	ENST00000264158.8	+	19	2332		c.e19+1		ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_Splice_Site|RAB3GAP1_ENST00000442034.1_Splice_Site|RAB3GAP1_ENST00000539493.1_Splice_Site	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGCAGAAAAGGTAATTGAGGT	0.413																																																0			2											71	70	70					2																	135911447		2203	4300	6503	135627917	SO:0001630	splice_region_variant	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2289+1G>T	2.37:g.135911447G>T			135627917	A6H8Z3|C9J837|Q659F5|Q8TBB4	Splice_Site	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002245	0.93227	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5144	0.95157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB3GAP1	135627917	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.817000	0.99352	2.618000	0.88619	0.655000	0.94253	.		0.413	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	Intron	T	135911447	G	T	135911447	5	4	429	1	0	0	0	0	0	0	1	0	12938	1275	44	3	2364	3	RAB3GAP1	2	135911447	Splice_Site	SNP	G	TCGA-61-1895-01A-01W-0639-09	26529677	135911447	107287926	9	23603											
SP140	11262	genome.wustl.edu	37	2	231175852	231175869	+	Splice_Site	DEL	GCCTCTTTCTTTTGCAGA	GCCTCTTTCTTTTGCAGA	-			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	GCCTCTTTCTTTTGCAGA	GCCTCTTTCTTTTGCAGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:231175852_231175869delGCCTCTTTCTTTTGCAGA	ENST00000392045.3	+	25	2397_2398	c.2283_2284delGCCTCTTTCTTTTGCAGA	c.(2281-2286)ttgcct>ttct	p.761_762LP>F	SP140_ENST00000350136.5_Splice_Site_p.630_631LP>F|SP140_ENST00000420434.3_Splice_Site_p.734_735LP>F|SP140_ENST00000486687.2_Splice_Site_p.685_686LP>F|SP140_ENST00000417495.3_Splice_Site_p.647_648LP>F|SP140_ENST00000343805.6_Splice_Site_p.701_702LP>F	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	761					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTCATTTACGGCCTCTTTCTTTTGCAGAAATGTGAGTT	0.427																																																0			2																																								230884113	SO:0001630	splice_region_variant	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2284-1GCCTCTTTCTTTTGCAGA>-	2.37:g.231175852_231175869delGCCTCTTTCTTTTGCAGA			230884096	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Splice_Site	DEL	ENST00000392045.3	37	CCDS42831.1																																																																																				0.427	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	In_Frame_Del	-	231175869	GCCTCTTTCTTTTGCAGA	-	231175852	8	5	429	1	0	1	0	1	0	0	1	0	14965	1218	42	0		0	SP140	2	231175852	Splice_Site	DEL	GCCTCTTTCTTTTGCAGA	TCGA-61-1895-01A-01W-0639-09	95264405	231175852	12023521	10	23604											
AGAP1	116987	genome.wustl.edu	37	2	236659022	236659022	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:236659022G>A	ENST00000304032.8	+	6	1143	c.563G>A	c.(562-564)aGg>aAg	p.R188K	AGAP1_ENST00000428334.2_Missense_Mutation_p.R27K|AGAP1_ENST00000409457.1_Missense_Mutation_p.R188K|AGAP1_ENST00000336665.5_Missense_Mutation_p.R188K|AGAP1_ENST00000409538.1_Missense_Mutation_p.R453K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	188	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCTAACCCGAGGGTCATCGAT	0.522																																																0			2											255	209	225					2																	236659022		2203	4300	6503	236323761	SO:0001583	missense	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.563G>A	2.37:g.236659022G>A	ENSP00000307634:p.Arg188Lys		236323761	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663470	0.88251	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.78924	1.37;1.37;1.37;1.37;-1.22	5.3	5.3	0.74995	.	0.066382	0.64402	D	0.000014	D	0.87892	0.6292	M	0.72576	2.205	0.80722	D	1	D;P	0.56968	0.978;0.855	D;P	0.72075	0.976;0.836	D	0.88689	0.3207	10	0.87932	D	0	.	19.3124	0.94195	0.0:0.0:1.0:0.0	.	188;188	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	K	188;188;188;453;27	ENSP00000387174:R188K;ENSP00000307634:R188K;ENSP00000338378:R188K;ENSP00000386897:R453K;ENSP00000411824:R27K	ENSP00000307634:R188K	R	+	2	0	AGAP1	236323761	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	9.548000	0.98103	2.650000	0.89964	0.655000	0.94253	AGG		0.522	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		A	236659022	G	A	236659022	3	1	429	1	0	0	0	0	1	0	0	0	366	1000	35	2	585	2	AGAP1	2	236659022	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	5483170	236659022	6540351	11	23605											
COL6A3	1293	genome.wustl.edu	37	2	238274654	238274654	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:238274654C>A	ENST00000295550.4	-	12	5977	c.5525G>T	c.(5524-5526)gGg>gTg	p.G1842V	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1235V|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1642V|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1641V|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1636V|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1636V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1842	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCATCAAACCCCAGAATCAC	0.502																																																0			2											56	57	57					2																	238274654		2202	4296	6498	237939393	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5525G>T	2.37:g.238274654C>A	ENSP00000295550:p.Gly1842Val		237939393	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821955	0.50739	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.44	5.44	0.79542	von Willebrand factor, type A (2);	0.000000	0.56097	D	0.000035	T	0.52041	0.1710	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.48019	-0.9071	10	0.02654	T	1	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	1235;1636;1842	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	1842;1641;1636;1235;1636;1642	ENSP00000295550:G1842V;ENSP00000315609:G1641V;ENSP00000315873:G1636V;ENSP00000418285:G1235V;ENSP00000386844:G1636V;ENSP00000295546:G1642V	ENSP00000295550:G1842V	G	-	2	0	COL6A3	237939393	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	7.265000	0.78442	2.723000	0.93209	0.655000	0.94253	GGG		0.502	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238274654	C	A	238274654	3	1	429	1	0	0	0	0	1	0	0	0	3701	623	22	3	4140	3	COL6A3	2	238274654	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09	1615632	238274654	4924719	12	23606											
TRANK1	9881	genome.wustl.edu	37	3	36876382	36876382	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr3:36876382T>A	ENST00000429976.2	-	20	5649	c.5402A>T	c.(5401-5403)tAt>tTt	p.Y1801F	TRANK1_ENST00000428977.2_Missense_Mutation_p.Y1251F|TRANK1_ENST00000301807.6_Missense_Mutation_p.Y1251F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1801							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTATAGAAATAGGCAGCATC	0.358																																																0			3											72	69	70					3																	36876382		1844	4080	5924	36851386	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5402A>T	3.37:g.36876382T>A	ENSP00000416168:p.Tyr1801Phe		36851386	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245525	0.39697	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32023	1.47;1.88;1.47	5.85	2.02	0.26589	Tetratricopeptide-like helical (1);	0.302208	0.24454	N	0.038397	T	0.16854	0.0405	N	0.19112	0.55	0.28194	N	0.927636	B	0.15930	0.015	B	0.12837	0.008	T	0.19128	-1.0315	10	0.24483	T	0.36	.	7.928	0.29887	0.351:0.0:0.1114:0.5376	.	1801	O15050	TRNK1_HUMAN	F	1251;1801;1251	ENSP00000416826:Y1251F;ENSP00000416168:Y1801F;ENSP00000301807:Y1251F	ENSP00000301807:Y1251F	Y	-	2	0	TRANK1	36851386	0.965000	0.33210	0.997000	0.53966	0.951000	0.60555	0.516000	0.22817	0.166000	0.19597	-0.333000	0.08304	TAT		0.358	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		A	36876382	T	A	36876382	3	1	429	1	0	0	0	0	1	0	0	0	16454	1406	49	5	3391	5	TRANK1	3	36876382	Missense_Mutation	SNP	T	TCGA-61-1895-01A-01W-0639-09		36876382	161146048	13	23607											
LRRC58	116064	genome.wustl.edu	37	3	120053755	120053755	+	Silent	SNP	A	A	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr3:120053755A>C	ENST00000295628.3	-	3	956	c.861T>G	c.(859-861)ctT>ctG	p.L287L		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	287										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CCAAGTATCTAAGAAGATTTC	0.373																																																0			3											63	58	60					3																	120053755		1836	4085	5921	121536445	SO:0001819	synonymous_variant	116064			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.861T>G	3.37:g.120053755A>C			121536445		Silent	SNP	ENST00000295628.3	37	CCDS46892.1																																																																																				0.373	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		C	120053755	A	C	120053755	2	2	429	1	0	0	0	0	0	0	0	1	9014	349	13	5		5	LRRC58	3	120053755	Silent	SNP	A	TCGA-61-1895-01A-01W-0639-09	83177373	120053755	77968675	14	23608											
NDST4	64579	genome.wustl.edu	37	4	115997231	115997231	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr4:115997231T>A	ENST00000264363.2	-	2	1640	c.962A>T	c.(961-963)aAt>aTt	p.N321I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	321	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCTTTGACATTCATCCTTGT	0.343																																																0			4											92	80	84					4																	115997231		2203	4300	6503	116216680	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.962A>T	4.37:g.115997231T>A	ENSP00000264363:p.Asn321Ile		116216680	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167232	0.78339	.	.	ENSG00000138653	ENST00000264363	T	0.36520	1.25	5.79	5.79	0.91817	.	0.042656	0.85682	D	0.000000	T	0.42223	0.1193	L	0.56769	1.78	0.58432	D	0.999999	B	0.26120	0.142	B	0.33121	0.158	T	0.34329	-0.9833	10	0.62326	D	0.03	.	16.1304	0.81428	0.0:0.0:0.0:1.0	.	321	Q9H3R1	NDST4_HUMAN	I	321	ENSP00000264363:N321I	ENSP00000264363:N321I	N	-	2	0	NDST4	116216680	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.966000	0.87956	2.202000	0.70862	0.482000	0.46254	AAT		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		A	115997231	T	A	115997231	3	1	429	1	0	0	0	0	1	0	0	0	10258	1493	52	5	1708	5	NDST4	4	115997231	Missense_Mutation	SNP	T	TCGA-61-1895-01A-01W-0639-09		115997231	75157045	15	23609											
PCDHB3	56132	genome.wustl.edu	37	5	140482274	140482274	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr5:140482274G>A	ENST00000231130.2	+	1	2041	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	681					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGCCCAGGCCCAGGCCGA	0.687																																																0			5											69	76	74					5																	140482274		2179	4237	6416	140462458	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2041G>A	5.37:g.140482274G>A	ENSP00000231130:p.Ala681Thr		140462458	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380027	0.42207	.	.	ENSG00000113205	ENST00000231130	T	0.50277	0.75	4.29	2.41	0.29592	.	.	.	.	.	T	0.43700	0.1259	M	0.70903	2.155	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.33033	-0.9884	9	0.30854	T	0.27	.	7.7842	0.29083	0.0979:0.1665:0.7357:0.0	.	681	Q9Y5E6	PCDB3_HUMAN	T	681	ENSP00000231130:A681T	ENSP00000231130:A681T	A	+	1	0	PCDHB3	140462458	0.000000	0.05858	0.018000	0.16275	0.841000	0.47740	0.696000	0.25541	0.891000	0.36235	0.485000	0.47835	GCC		0.687	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		A	140482274	G	A	140482274	3	1	429	1	0	0	0	0	1	0	0	0	11543	1203	42	2	2043	2	PCDHB3	5	140482274	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09		140482274	40432986	16	23610											
PCDHGA10	56106	genome.wustl.edu	37	5	140794530	140794530	+	Silent	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr5:140794530G>T	ENST00000398610.2	+	1	1788	c.1788G>T	c.(1786-1788)gtG>gtT	p.V596V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	596	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGTGGTGGCGGTGGACA	0.706																																																0			5											60	72	68					5																	140794530		2202	4295	6497	140774714	SO:0001819	synonymous_variant	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1788G>T	5.37:g.140794530G>T			140774714	Q9Y5E0	Silent	SNP	ENST00000398610.2	37	CCDS47292.1																																																																																				0.706	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		T	140794530	G	T	140794530	2	4	429	1	0	0	0	0	0	0	0	1	11551	1335	47	3		3	PCDHGA10	5	140794530	Silent	SNP	G	TCGA-61-1895-01A-01W-0639-09	312256	140794530	40120730	17	23611											
DST	667	genome.wustl.edu	37	6	56323900	56323900	+	Missense_Mutation	SNP	C	C	T	rs375978950		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr6:56323900C>T	ENST00000361203.3	-	98	22296	c.22289G>A	c.(22288-22290)cGa>cAa	p.R7430Q	DST_ENST00000446842.2_Missense_Mutation_p.R7215Q|DST_ENST00000244364.6_Missense_Mutation_p.R5140Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.R7719Q|DST_ENST00000421834.2_Missense_Mutation_p.R5426Q|DST_ENST00000370769.4_Missense_Mutation_p.R7541Q|DST_ENST00000370788.2_Missense_Mutation_p.R5344Q			Q03001	DYST_HUMAN	dystonin	7539					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGAACCTGCTCGGGGTGTAGG	0.537																																																0			6						C	GLN/ARG	0,3906		0,0,1953	80	84	83		15419	5.8	1	6		83	1,8291		0,1,4145	no	missense	DST	NM_015548.4	43	0,1,6098	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	5140/5172	56323900	1,12197	1953	4146	6099	56431859	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22289G>A	6.37:g.56323900C>T	ENSP00000354508:p.Arg7430Gln		56431859	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604748|4.604748	0.87157|0.87157	0.0|0.0	1.21E-4|1.21E-4	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.65549	.|0.98;-0.15;-0.16;0.02;0.78;0.03;-0.07	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.41294	.|D	.|0.000911	T|T	0.64702|0.64702	0.2622|0.2622	L|L	0.40543|0.40543	1.245|1.245	.|.	.|.	.|.	.|P;B;D;D;D;D;D;D	.|0.89917	.|0.955;0.023;1.0;1.0;0.998;0.999;0.999;1.0	.|B;B;D;D;P;D;D;P	.|0.79108	.|0.207;0.002;0.99;0.992;0.883;0.984;0.99;0.905	T|T	0.55768|0.55768	-0.8089|-0.8089	4|9	.|0.15499	.|T	.|0.54	.|.	19.9991|19.9991	0.97403|0.97403	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5426;7541;7719;7539;5140;227;227;5344	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	K|Q	228|5140;7719;7541;5426;7215;5344;7430	.|ENSP00000244364:R5140Q;ENSP00000359790:R7719Q;ENSP00000359805:R7541Q;ENSP00000400883:R5426Q;ENSP00000393645:R7215Q;ENSP00000359824:R5344Q;ENSP00000354508:R7430Q	.|ENSP00000244364:R5140Q	E|R	-|-	1|2	0|0	DST|DST	56431859|56431859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.089000|6.089000	0.71384|0.71384	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.537	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56323900	C	T	56323900	3	4	429	1	0	0	0	0	1	0	0	0	4783	884	31	1	100	1	DST	6	56323900	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09		56323900	114791167	18	23612											
CHN2	1124	genome.wustl.edu	37	7	29546972	29546972	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr7:29546972G>C	ENST00000222792.6	+	11	1650	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H	CHN2_ENST00000539389.1_Missense_Mutation_p.D230H|CHN2_ENST00000546235.1_Missense_Mutation_p.D359H|CHN2_ENST00000495789.2_Missense_Mutation_p.D387H|CHN2_ENST00000421775.2_Missense_Mutation_p.D180H|CHN2_ENST00000439711.2_Intron|CHN2_ENST00000424025.2_Missense_Mutation_p.D193H|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.D449H|CHN2_ENST00000409041.4_Missense_Mutation_p.D238H|CHN2_ENST00000410098.1_3'UTR	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	374	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CAAATTTATAGATGCAGCAAG	0.318																																					Ovarian(1;44 48 13232 18918 31480)											0			7											82	76	78					7																	29546972		2202	4300	6502	29513497	SO:0001583	missense	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1120G>C	7.37:g.29546972G>C	ENSP00000222792:p.Asp374His		29513497	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	CCDS5420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.54|18.54	3.646331|3.646331	0.67358|0.67358	.|.	.|.	ENSG00000106069|ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000421775|ENST00000433720	T;T;T;T;T;T;T;T|.	0.19250|.	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.234704|.	0.50627|.	D|.	0.000107|.	T|.	0.62780|.	0.2456|.	L|L	0.41079|0.41079	1.255|1.255	0.36700|0.36700	D|D	0.880071|0.880071	B;B;B;P;P;B;P;B;P;B|.	0.42123|.	0.286;0.281;0.295;0.547;0.756;0.281;0.771;0.14;0.635;0.14|.	B;B;B;B;P;B;P;B;P;B|.	0.50049|.	0.315;0.315;0.283;0.346;0.629;0.264;0.512;0.21;0.629;0.21|.	T|.	0.62882|.	-0.6760|.	10|.	0.56958|.	D|.	0.05|.	.|.	19.1752|19.1752	0.93601|0.93601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;359;387;449;193;180;230;374;238;374|.	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757|.	.;.;.;.;.;.;.;.;.;CHIO_HUMAN|.	H|Y	449;374;387;230;359;238;193;180|52	ENSP00000444063:D449H;ENSP00000222792:D374H;ENSP00000438587:D387H;ENSP00000440526:D230H;ENSP00000442812:D359H;ENSP00000386849:D238H;ENSP00000406337:D193H;ENSP00000394284:D180H|.	ENSP00000222792:D374H|.	D|X	+|+	1|3	0|2	CHN2|CHN2	29513497|29513497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.222000|6.222000	0.72249|0.72249	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GAT|TAG		0.318	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		C	29546972	G	C	29546972	3	2	429	1	0	0	0	0	1	0	0	0	3363	942	33	3	1330	3	CHN2	7	29546972	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09		29546972	129591691	19	23613											
CPA2	1358	genome.wustl.edu	37	7	129929507	129929507	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr7:129929507C>T	ENST00000222481.4	+	11	1235	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	394					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CTTGCCAGCCCGTCAGATCCT	0.547																																																0			7											113	104	107					7																	129929507		2203	4300	6503	129716743	SO:0001583	missense	1358			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1180C>T	7.37:g.129929507C>T	ENSP00000222481:p.Arg394Cys		129716743	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557064	0.27827	.	.	ENSG00000158516	ENST00000222481	T	0.03441	3.93	5.13	-4.64	0.03349	Peptidase M14, carboxypeptidase A (2);	0.760740	0.12160	N	0.494058	T	0.05502	0.0145	L	0.58354	1.805	0.30299	N	0.789604	B	0.33919	0.432	P	0.44921	0.464	T	0.37430	-0.9706	10	0.87932	D	0	.	2.0174	0.03501	0.4263:0.2148:0.2574:0.1015	.	394	P48052	CBPA2_HUMAN	C	394	ENSP00000222481:R394C	ENSP00000222481:R394C	R	+	1	0	CPA2	129716743	0.880000	0.30214	0.116000	0.21606	0.244000	0.25665	2.155000	0.42301	-0.628000	0.05582	-0.410000	0.06199	CGT		0.547	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		T	129929507	C	T	129929507	3	4	429	1	0	0	0	0	1	0	0	0	3790	652	23	1	1222	1	CPA2	7	129929507	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09	100382535	129929507	29209156	20	23614											
ADAM9	8754	genome.wustl.edu	37	8	38961128	38961128	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr8:38961128C>T	ENST00000487273.2	+	22	2447	c.2369C>T	c.(2368-2370)cCa>cTa	p.P790L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	790	Poly-Pro.			Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCTCGCAGGCCACCTCCACCA	0.423																																																0			8											138	133	135					8																	38961128		2203	4300	6503	39080285	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2369C>T	8.37:g.38961128C>T	ENSP00000419446:p.Pro790Leu		39080285	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150034	0.78001	.	.	ENSG00000168615	ENST00000487273	T	0.03889	3.77	5.76	5.76	0.90799	.	0.118078	0.64402	D	0.000019	T	0.16514	0.0397	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00037	-1.2250	10	0.72032	D	0.01	.	15.4858	0.75564	0.0:1.0:0.0:0.0	.	790	Q13443	ADAM9_HUMAN	L	790	ENSP00000419446:P790L	ENSP00000419446:P790L	P	+	2	0	ADAM9	39080285	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.781000	0.55394	2.706000	0.92434	0.655000	0.94253	CCA		0.423	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			T	38961128	C	T	38961128	3	4	429	1	0	0	0	0	1	0	0	0	253	594	21	2	2455	2	ADAM9	8	38961128	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09		38961128	107402894	21	23615											
ZHX1	11244	genome.wustl.edu	37	8	124266869	124266902	+	Frame_Shift_Del	DEL	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	-	rs200803962|rs201550572|rs61744421|rs376788877	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr8:124266869_124266902delTTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	ENST00000522655.1	-	3	1825_1858	c.1285_1318delAGTCAGGTACCTGCTGCTCAGCCTACTGCAGAAA	c.(1285-1320)agtcaggtacctgctgctcagcctactgcagaaacafs	p.SQVPAAQPTAET429fs	ZHX1_ENST00000297857.2_Frame_Shift_Del_p.SQVPAAQPTAET429fs|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Frame_Shift_Del_p.SQVPAAQPTAET429fs|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	429	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTGGCTTTGTTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACTTTTCTGTATA	0.449																																																0			8																																								124336083	SO:0001589	frameshift_variant	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1285_1318delAGTCAGGTACCTGCTGCTCAGCCTACTGCAGAAA	8.37:g.124266869_124266902delTTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	ENSP00000428821:p.Ser429fs		124336050	Q8IWD8	Frame_Shift_Del	DEL	ENST00000522655.1	37	CCDS6342.1																																																																																				0.449	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			-	124266902	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	-	124266869	7	5	429	1	0	1	0	1	0	0	0	0	17675	1725	60	0	1307	0	ZHX1	8	124266869	Frame_Shift_Del	DEL	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	TCGA-61-1895-01A-01W-0639-09	85305741	124266869	22097153	22	23616											
TG	7038	genome.wustl.edu	37	8	133899487	133899487	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr8:133899487G>A	ENST00000220616.4	+	9	1910	c.1870G>A	c.(1870-1872)Gga>Aga	p.G624R	TG_ENST00000377869.1_Missense_Mutation_p.G624R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	624	Thyroglobulin type-1 5. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACGACAGAAGGAAGCTATGA	0.512																																																0			8											156	131	140					8																	133899487		2203	4300	6503	133968669	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1870G>A	8.37:g.133899487G>A	ENSP00000220616:p.Gly624Arg		133968669	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211721	0.79240	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.94687	-3.49;-3.49	5.03	5.03	0.67393	Thyroglobulin type-1 (6);	0.091167	0.47852	D	0.000206	D	0.98226	0.9413	H	0.95850	3.73	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	D	0.99406	1.0929	10	0.87932	D	0	.	17.5379	0.87839	0.0:0.0:1.0:0.0	.	624	P01266	THYG_HUMAN	R	624	ENSP00000367100:G624R;ENSP00000220616:G624R	ENSP00000220616:G624R	G	+	1	0	TG	133968669	1.000000	0.71417	0.997000	0.53966	0.695000	0.40330	8.793000	0.91862	2.613000	0.88420	0.655000	0.94253	GGA		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133899487	G	A	133899487	3	1	429	1	0	0	0	0	1	0	0	0	15813	1001	35	2	1904	2	TG	8	133899487	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	9632618	133899487	12464535	23	23617											
RECK	8434	genome.wustl.edu	37	9	36112346	36112346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr9:36112346C>T	ENST00000377966.3	+	16	2499	c.1933C>T	c.(1933-1935)Cag>Tag	p.Q645*		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	645	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGTATGTGGGCAGAATGGGCG	0.493																																																0			9											144	113	124					9																	36112346		2203	4300	6503	36102346	SO:0001587	stop_gained	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1933C>T	9.37:g.36112346C>T	ENSP00000367202:p.Gln645*		36102346	B2RNS1|Q5W0K6|Q8WX37	Nonsense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	43	10.016653	0.99318	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.71	5.71	0.89125	.	0.238825	0.37577	N	0.002031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-10.2614	17.3431	0.87303	0.0:1.0:0.0:0.0	.	.	.	.	X	645	.	ENSP00000367202:Q645X	Q	+	1	0	RECK	36102346	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.410000	0.44592	2.701000	0.92244	0.563000	0.77884	CAG		0.493	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			T	36112346	C	T	36112346	4	4	429	1	0	0	0	0	0	1	0	0	13203	711	25	2	1995	2	RECK	9	36112346	Nonsense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09		36112346	105101085	24	23618											
TAL2	6887	genome.wustl.edu	37	9	108424983	108424983	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr9:108424983C>T	ENST00000334077.3	+	1	246	c.206C>T	c.(205-207)gCt>gTt	p.A69V		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	69					midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										ACGGGAGTGGCTGCTCAGGGG	0.532			T	TRB@	T-ALL																																		Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	0			9											76	74	75					9																	108424983		2203	4300	6503	107464804	SO:0001583	missense	6887				CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"Basic helix-loop-helix proteins"	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.206C>T	9.37:g.108424983C>T	ENSP00000334547:p.Ala69Val		107464804	A0AVI7	Missense_Mutation	SNP	ENST00000334077.3	37	CCDS6767.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021787	0.35701	.	.	ENSG00000186051	ENST00000334077	D	0.96427	-4.01	5.52	3.55	0.40652	Helix-loop-helix DNA-binding (1);	0.540131	0.21791	N	0.069080	D	0.93657	0.7974	L	0.56769	1.78	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	D	0.85280	0.1061	10	0.27082	T	0.32	0.0013	10.8787	0.46925	0.133:0.6095:0.2574:0.0	.	69	Q16559	TAL2_HUMAN	V	69	ENSP00000334547:A69V	ENSP00000334547:A69V	A	+	2	0	TAL2	107464804	0.001000	0.12720	0.004000	0.12327	0.625000	0.37756	0.212000	0.17497	1.444000	0.47605	0.655000	0.94253	GCT		0.532	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		T	108424983	C	T	108424983	3	4	429	1	0	0	0	0	1	0	0	0	15542	797	28	2	208	2	TAL2	9	108424983	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09	72312637	108424983	32788448	25	23619											
C10orf71	118461	genome.wustl.edu	37	10	50531003	50531003	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr10:50531003A>G	ENST00000374144.3	+	3	701	c.413A>G	c.(412-414)aAg>aGg	p.K138R	C10orf71_ENST00000323868.4_Missense_Mutation_p.K138R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	138										endometrium(1)	1						AGCAGCAATAAGCCTGTCTCC	0.542																																																0			10											69	81	77					10																	50531003		1996	4168	6164	50201009	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.413A>G	10.37:g.50531003A>G	ENSP00000363259:p.Lys138Arg		50201009	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483000	0.44147	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.38077	1.16;2.26	5.12	5.12	0.69794	.	0.000000	0.52532	D	0.000075	T	0.57519	0.2059	M	0.66939	2.045	0.29397	N	0.862175	D	0.89917	1.0	D	0.83275	0.996	T	0.57207	-0.7851	10	0.38643	T	0.18	.	14.9189	0.70818	1.0:0.0:0.0:0.0	.	138	Q711Q0-3	.	R	138	ENSP00000318713:K138R;ENSP00000363259:K138R	ENSP00000318713:K138R	K	+	2	0	C10orf71	50201009	1.000000	0.71417	0.883000	0.34634	0.120000	0.20174	4.660000	0.61511	1.936000	0.56123	0.379000	0.24179	AAG		0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		G	50531003	A	G	50531003	3	3	429	1	0	0	0	0	1	0	0	0	1614	72	3	4	415	4	C10orf71	10	50531003	Missense_Mutation	SNP	A	TCGA-61-1895-01A-01W-0639-09		50531003	85003744	26	23620											
LRIT2	340745	genome.wustl.edu	37	10	85982179	85982179	+	Missense_Mutation	SNP	C	C	G	rs143048137	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr10:85982179C>G	ENST00000372113.4	-	3	1155	c.1150G>C	c.(1150-1152)Gca>Cca	p.A384P	LRIT2_ENST00000538192.1_Missense_Mutation_p.A394P	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	384	Fibronectin type-III.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCAGCCACTGCAAGCCACTCC	0.532																																																0			10											85	77	80					10																	85982179		2203	4300	6503	85972159	SO:0001583	missense	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1150G>C	10.37:g.85982179C>G	ENSP00000361185:p.Ala384Pro		85972159	B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169060	0.57584	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.63417	0.41;-0.04	4.93	0.717	0.18196	Fibronectin, type III (1);	0.336296	0.34156	N	0.004202	T	0.59224	0.2178	L	0.52759	1.655	0.09310	N	1	D;D	0.57899	0.981;0.981	P;P	0.55161	0.77;0.77	T	0.49331	-0.8951	10	0.31617	T	0.26	.	4.1855	0.10395	0.158:0.4925:0.0:0.3495	.	394;384	B7ZME6;A6NDA9	.;LRIT2_HUMAN	P	384;394	ENSP00000361185:A384P;ENSP00000438264:A394P	ENSP00000361185:A384P	A	-	1	0	LRIT2	85972159	0.007000	0.16637	0.008000	0.14137	0.827000	0.46813	0.866000	0.27954	0.160000	0.19432	0.557000	0.71058	GCA		0.532	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		G	85982179	C	G	85982179	3	3	429	1	0	0	0	0	1	0	0	0	8948	710	25	3	506	3	LRIT2	10	85982179	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09	35451176	85982179	49552568	27	23621											
PDLIM1	9124	genome.wustl.edu	37	10	97007035	97007035	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr10:97007035C>T	ENST00000329399.6	-	5	730	c.622G>A	c.(622-624)Gag>Aag	p.E208K	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	208					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TTCGGGGGCTCATTCAACTCC	0.458																																																0			10											117	109	111					10																	97007035		2203	4300	6503	96997025	SO:0001583	missense	9124			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.622G>A	10.37:g.97007035C>T	ENSP00000360305:p.Glu208Lys		96997025	B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806074	0.50421	.	.	ENSG00000107438	ENST00000329399	T	0.21031	2.03	5.63	5.63	0.86233	.	0.094339	0.64402	D	0.000001	T	0.46776	0.1410	M	0.77616	2.38	0.58432	D	0.999998	D	0.69078	0.997	P	0.61132	0.884	T	0.41592	-0.9500	10	0.52906	T	0.07	-26.267	18.6672	0.91495	0.0:1.0:0.0:0.0	.	208	O00151	PDLI1_HUMAN	K	208	ENSP00000360305:E208K	ENSP00000360305:E208K	E	-	1	0	PDLIM1	96997025	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	4.763000	0.62257	2.651000	0.90000	0.655000	0.94253	GAG		0.458	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			T	97007035	C	T	97007035	3	4	429	1	0	0	0	0	1	0	0	0	11679	835	29	2	379	2	PDLIM1	10	97007035	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09	11024856	97007035	38527712	28	23622											
PKD2L1	9033	genome.wustl.edu	37	10	102056040	102056040	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr10:102056040C>A	ENST00000318222.3	-	7	1577	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	PKD2L1_ENST00000353274.3_Missense_Mutation_p.V399L|PKD2L1_ENST00000338519.3_Missense_Mutation_p.V324L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	399					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCACAGCCACAATGGAGAGC	0.567																																																0			10											45	43	44					10																	102056040		2203	4300	6503	102046030	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1195G>T	10.37:g.102056040C>A	ENSP00000325296:p.Val399Leu		102046030	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.275084	0.23307	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.70749	-0.51;-0.51;-0.51	5.8	-5.52	0.02560	Polycystin cation channel, PKD1/PKD2 (1);	0.245474	0.41396	D	0.000888	T	0.46737	0.1408	L	0.39085	1.19	0.26247	N	0.978783	B;B	0.31769	0.339;0.006	B;B	0.34824	0.19;0.021	T	0.52472	-0.8571	10	0.09843	T	0.71	-0.381	3.8195	0.08830	0.0936:0.4108:0.0916:0.404	.	352;399	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	L	324;399;399;397	ENSP00000345068:V324L;ENSP00000266049:V399L;ENSP00000325296:V399L	ENSP00000325296:V399L	V	-	1	0	PKD2L1	102046030	0.007000	0.16637	0.009000	0.14445	0.593000	0.36681	0.231000	0.17872	-1.124000	0.02936	-1.182000	0.01712	GTG		0.567	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		A	102056040	C	A	102056040	3	1	429	1	0	0	0	0	1	0	0	0	11967	478	17	3	1262	3	PKD2L1	10	102056040	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09	5049005	102056040	33478707	29	23623											
OR2AG1	144125	genome.wustl.edu	37	11	6806497	6806497	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:6806497G>A	ENST00000307401.4	+	1	250	c.229G>A	c.(229-231)Gtc>Atc	p.V77I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACATCTGTTGTCACTCCCAA	0.567																																																0			11											156	142	147					11																	6806497		2201	4294	6495	6763073	SO:0001583	missense	144125			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.229G>A	11.37:g.6806497G>A	ENSP00000307447:p.Val77Ile		6763073	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	G	0.611	-0.824866	0.02755	.	.	ENSG00000170803	ENST00000307401	T	0.01406	4.93	4.03	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000487	T	0.00784	0.0026	N	0.04090	-0.28	0.09310	N	1	B	0.16802	0.019	B	0.17979	0.02	T	0.48906	-0.8993	10	0.09338	T	0.73	.	8.9137	0.35568	0.1149:0.0:0.8851:0.0	.	77	Q9H205	O2AG1_HUMAN	I	77	ENSP00000307447:V77I	ENSP00000307447:V77I	V	+	1	0	OR2AG1	6763073	0.000000	0.05858	0.991000	0.47740	0.964000	0.63967	0.759000	0.26461	1.028000	0.39785	0.591000	0.81541	GTC		0.567	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		A	6806497	G	A	6806497	3	1	429	1	0	0	0	0	1	0	0	0	10984	1377	48	2	231	2	OR2AG1	11	6806497	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09		6806497	128200019	30	23624											
OR4S2	219431	genome.wustl.edu	37	11	55418514	55418514	+	Silent	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:55418514G>T	ENST00000312422.2	+	1	135	c.135G>T	c.(133-135)ctG>ctT	p.L45L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TCATCATGCTGACAGTTTGCC	0.413																																																0			11											207	166	181					11																	55418514		2181	4039	6220	55175090	SO:0001819	synonymous_variant	219431			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.135G>T	11.37:g.55418514G>T			55175090	Q6IF72	Silent	SNP	ENST00000312422.2	37	CCDS31505.1																																																																																				0.413	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		T	55418514	G	T	55418514	2	4	429	1	0	0	0	0	0	0	0	1	11083	1277	45	3		3	OR4S2	11	55418514	Silent	SNP	G	TCGA-61-1895-01A-01W-0639-09	48612017	55418514	79588002	31	23625											
MS4A14	84689	genome.wustl.edu	37	11	60183825	60183832	+	Frame_Shift_Del	DEL	TCAGAAGT	TCAGAAGT	-	rs532540660		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	TCAGAAGT	TCAGAAGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:60183825_60183832delTCAGAAGT	ENST00000300187.6	+	5	1661_1668	c.1384_1391delTCAGAAGT	c.(1384-1392)tcagaagttfs	p.SEV462fs	MS4A14_ENST00000395005.2_Frame_Shift_Del_p.SEV445fs|MS4A14_ENST00000531783.1_Frame_Shift_Del_p.SEV495fs|MS4A14_ENST00000531787.1_Frame_Shift_Del_p.SEV350fs	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	462	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGATATTAGATCAGAAGTTATGGAAGAG	0.394																																																0			11																																								59940408	SO:0001589	frameshift_variant	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1384_1391delTCAGAAGT	11.37:g.60183825_60183832delTCAGAAGT	ENSP00000300187:p.Ser462fs		59940401	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Frame_Shift_Del	DEL	ENST00000300187.6	37	CCDS31569.1																																																																																				0.394	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			-	60183832	TCAGAAGT	-	60183825	7	5	429	1	0	1	0	1	0	0	0	0	9858	1435	50	0	1402	0	MS4A14	11	60183825	Frame_Shift_Del	DEL	TCAGAAGT	TCGA-61-1895-01A-01W-0639-09	4765311	60183825	74822691	32	23626											
GDPD4	220032	genome.wustl.edu	37	11	76940193	76940193	+	Splice_Site	SNP	A	A	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:76940193A>C	ENST00000376217.2	-	14	1723		c.e14+1		GDPD4_ENST00000315938.4_Splice_Site			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4						glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						atatataCTTACCAGTGAAAA	0.303																																																0			11											25	24	24					11																	76940193		2199	4290	6489	76617841	SO:0001630	splice_region_variant	220032			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1472+1T>G	11.37:g.76940193A>C			76617841	Q7Z5B0	Splice_Site	SNP	ENST00000376217.2	37		.	.	.	.	.	.	.	.	.	.	A	19.29	3.799387	0.70567	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5272	0.61601	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GDPD4	76617841	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.414000	0.66405	2.077000	0.62373	0.528000	0.53228	.		0.303	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	Intron	C	76940193	A	C	76940193	5	2	429	1	0	0	0	0	0	0	1	0	6326	405	14	5	100	5	GDPD4	11	76940193	Splice_Site	SNP	A	TCGA-61-1895-01A-01W-0639-09	16756368	76940193	58066323	33	23627											
AQP11	282679	genome.wustl.edu	37	11	77301482	77301482	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:77301482A>G	ENST00000313578.3	+	1	803	c.445A>G	c.(445-447)Agc>Ggc	p.S149G	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	149					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GTATCACGTCAGCGAGAGGAG	0.582																																																0			11											97	81	87					11																	77301482		2200	4292	6492	76979130	SO:0001583	missense	282679			AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"Ion channels / Aquaporins"	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.445A>G	11.37:g.77301482A>G	ENSP00000318770:p.Ser149Gly		76979130		Missense_Mutation	SNP	ENST00000313578.3	37	CCDS8251.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750571	0.31046	.	.	ENSG00000178301	ENST00000313578	D	0.85258	-1.96	5.54	-3.22	0.05125	Aquaporin-like (2);	0.758346	0.13460	N	0.386211	T	0.69993	0.3173	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54417	-0.8297	10	0.17369	T	0.5	-13.1781	8.8181	0.35009	0.3218:0.1283:0.5499:0.0	.	149	Q8NBQ7	AQP11_HUMAN	G	149	ENSP00000318770:S149G	ENSP00000318770:S149G	S	+	1	0	AQP11	76979130	0.000000	0.05858	0.926000	0.36857	0.884000	0.51177	0.143000	0.16115	-0.137000	0.11455	0.402000	0.26972	AGC		0.582	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1	NM_173039		G	77301482	A	G	77301482	3	3	429	1	0	0	0	0	1	0	0	0	823	188	7	4	447	4	AQP11	11	77301482	Missense_Mutation	SNP	A	TCGA-61-1895-01A-01W-0639-09	361289	77301482	57705034	34	23628											
LRP6	4040	genome.wustl.edu	37	12	12303811	12303811	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr12:12303811G>C	ENST00000261349.4	-	13	3029	c.2953C>G	c.(2953-2955)Cga>Gga	p.R985G	LRP6_ENST00000543091.1_Missense_Mutation_p.R985G	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	985	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATGTTTTGTCGTGAGTCAATC	0.478																																																0			12											244	218	227					12																	12303811		2203	4300	6503	12195078	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2953C>G	12.37:g.12303811G>C	ENSP00000261349:p.Arg985Gly		12195078	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778689	0.70107	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.90620	-2.7;-2.7	5.73	3.86	0.44501	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	D	0.000105	T	0.79885	0.4523	N	0.12637	0.245	0.58432	D	0.999997	P;P	0.37731	0.465;0.607	B;B	0.35770	0.11;0.21	T	0.78450	-0.2199	10	0.38643	T	0.18	.	9.5614	0.39371	0.067:0.0:0.683:0.25	.	985;985	F5H7J9;O75581	.;LRP6_HUMAN	G	985	ENSP00000261349:R985G;ENSP00000442472:R985G	ENSP00000261349:R985G	R	-	1	2	LRP6	12195078	0.706000	0.27856	0.996000	0.52242	0.985000	0.73830	0.996000	0.29719	1.396000	0.46663	-0.302000	0.09304	CGA		0.478	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			C	12303811	G	C	12303811	3	2	429	1	0	0	0	0	1	0	0	0	8962	1153	40	3	1932	3	LRP6	12	12303811	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09		12303811	121548084	35	23629											
DCTN2	10540	genome.wustl.edu	37	12	57928865	57928865	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr12:57928865G>T	ENST00000548249.1	-	5	604	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	DCTN2_ENST00000543672.1_Missense_Mutation_p.L118M|DCTN2_ENST00000537439.1_Missense_Mutation_p.L90M|DCTN2_ENST00000434715.3_Missense_Mutation_p.L118M|DCTN2_ENST00000551400.1_5'UTR	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TCAGTTGTCAGCTCTTGGACC	0.478																																																0			12											147	143	144					12																	57928865		1958	4151	6109	56215132	SO:0001583	missense	10540			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.337C>A	12.37:g.57928865G>T	ENSP00000447824:p.Leu113Met		56215132	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038294	0.75617	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000550086;ENST00000550954;ENST00000546670;ENST00000550750	.	.	.	4.67	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.83545	0.0098	9	0.59425	D	0.04	-20.5367	14.0746	0.64882	0.0:0.0:0.8474:0.1526	.	113;118;113	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	M	113;118;118;90;113;26;78;127;113;90	.	ENSP00000346785:L113M	L	-	1	2	DCTN2	56215132	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.973000	0.76116	1.562000	0.49601	0.655000	0.94253	CTG		0.478	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		T	57928865	G	T	57928865	3	4	429	1	0	0	0	0	1	0	0	0	4307	962	34	3	908	3	DCTN2	12	57928865	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	45625054	57928865	75923030	36	23630											
CCDC53	51019	genome.wustl.edu	37	12	102433738	102433738	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr12:102433738A>G	ENST00000240079.6	-	5	504	c.343T>C	c.(343-345)Tct>Cct	p.S115P	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.S114P	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	115						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGTAGTCCAGAGTCTTGTGTA	0.363																																																0			12											197	181	186					12																	102433738		1848	4111	5959	100957868	SO:0001583	missense	51019			AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.343T>C	12.37:g.102433738A>G	ENSP00000240079:p.Ser115Pro		100957868	B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	ENST00000240079.6	37	CCDS44959.1	.	.	.	.	.	.	.	.	.	.	A	8.739	0.918420	0.17982	.	.	ENSG00000120860	ENST00000240079;ENST00000545679	.	.	.	5.82	0.624	0.17659	.	0.514279	0.22456	N	0.059839	T	0.11922	0.0290	N	0.04355	-0.22	0.24039	N	0.996088	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.12630	-1.0540	9	0.21014	T	0.42	-13.7664	1.0586	0.01596	0.4457:0.15:0.2595:0.1447	.	114;115	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	P	115;114	.	ENSP00000240079:S115P	S	-	1	0	CCDC53	100957868	0.141000	0.22595	1.000000	0.80357	0.996000	0.88848	-0.703000	0.05063	0.466000	0.27193	0.524000	0.50904	TCT		0.363	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1	NM_016053		G	102433738	A	G	102433738	3	3	429	1	0	0	0	0	1	0	0	0	2823	304	11	4	184	4	CCDC53	12	102433738	Missense_Mutation	SNP	A	TCGA-61-1895-01A-01W-0639-09	44504873	102433738	31418157	37	23631											
OAS3	4940	genome.wustl.edu	37	12	113385895	113385895	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr12:113385895G>C	ENST00000228928.7	+	5	1199	c.1020G>C	c.(1018-1020)tgG>tgC	p.W340C	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	340	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGCAGTCTTGGAAGGGGCCGG	0.572																																																0			12											29	30	30					12																	113385895		1920	4117	6037	111870278	SO:0001583	missense	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1020G>C	12.37:g.113385895G>C	ENSP00000228928:p.Trp340Cys		111870278	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555269	0.27739	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.59364	0.27	4.05	4.05	0.47172	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.77157	0.4089	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81136	-0.1070	9	0.87932	D	0	.	11.9137	0.52753	0.0:0.0:1.0:0.0	.	340	Q9Y6K5	OAS3_HUMAN	C	340	ENSP00000228928:W340C	ENSP00000228928:W340C	W	+	3	0	OAS3	111870278	0.998000	0.40836	0.889000	0.34880	0.004000	0.04260	4.084000	0.57650	2.251000	0.74343	0.655000	0.94253	TGG		0.572	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			C	113385895	G	C	113385895	3	2	429	1	0	0	0	0	1	0	0	0	10801	1183	41	3	1038	3	OAS3	12	113385895	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	10952157	113385895	20466000	38	23632											
LMO7	4008	genome.wustl.edu	37	13	76395516	76395516	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr13:76395516G>A	ENST00000321797.8	+	12	2433	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	LMO7_ENST00000465261.2_Missense_Mutation_p.R571H|LMO7_ENST00000357063.3_Missense_Mutation_p.R856H|LMO7_ENST00000377534.3_Missense_Mutation_p.R856H|LMO7_ENST00000341547.4_Missense_Mutation_p.R522H|LMO7_ENST00000526202.1_Missense_Mutation_p.R421H			Q8WWI1	LMO7_HUMAN	LIM domain 7	856					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGAGGACCGTGTAACAACT	0.438																																																0			13											106	102	103					13																	76395516		2203	4300	6503	75293517	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1712G>A	13.37:g.76395516G>A	ENSP00000317802:p.Arg571His		75293517	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.	.	.	.	.	.	.	.	.	.	G	6.929	0.541153	0.13250	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T;T	0.43294	1.54;1.53;1.53;0.96;0.96;0.96;0.95	5.91	-6.5	0.01884	.	2.474630	0.00822	N	0.001596	T	0.18882	0.0453	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12630	0.001;0.006;0.001;0.003;0.002	B;B;B;B;B	0.09377	0.0;0.001;0.001;0.0;0.004	T	0.08722	-1.0708	10	0.24483	T	0.36	4.9058	4.1616	0.10287	0.3727:0.3356:0.2171:0.0745	.	421;522;856;571;804	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	H	522;856;856;470;571;421;571	ENSP00000342112:R522H;ENSP00000349571:R856H;ENSP00000366757:R856H;ENSP00000366719:R470H;ENSP00000317802:R571H;ENSP00000431129:R421H;ENSP00000433352:R571H	ENSP00000317802:R571H	R	+	2	0	LMO7	75293517	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.337000	0.07852	-1.211000	0.02624	-0.806000	0.03193	CGT		0.438	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		A	76395516	G	A	76395516	3	1	429	1	0	0	0	0	1	0	0	0	8855	1145	40	1	2625	1	LMO7	13	76395516	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09		76395516	38774362	39	23633											
HECTD1	25831	genome.wustl.edu	37	14	31604773	31604773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr14:31604773G>A	ENST00000399332.1	-	21	3651	c.3163C>T	c.(3163-3165)Cga>Tga	p.R1055*	HECTD1_ENST00000553700.1_Nonsense_Mutation_p.R1055*	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1055					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTTAATTTTCGAACAAAAACA	0.323																																																0			14											86	81	83					14																	31604773		1825	4075	5900	30674524	SO:0001587	stop_gained	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3163C>T	14.37:g.31604773G>A	ENSP00000382269:p.Arg1055*		30674524	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Nonsense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	36	5.817611	0.96982	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.	.	.	5.47	4.57	0.56435	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-5.3044	15.812	0.78571	0.0:0.0:0.8627:0.1373	.	.	.	.	X	1055;1057;1055;529	.	ENSP00000261312:R1057X	R	-	1	2	HECTD1	30674524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.029000	0.57253	1.408000	0.46895	0.655000	0.94253	CGA		0.323	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			A	31604773	G	A	31604773	4	1	429	1	0	0	0	0	0	1	0	0	7039	1066	37	1	4761	1	HECTD1	14	31604773	Nonsense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09		31604773	75744767	40	23634											
GCNT3	9245	genome.wustl.edu	37	15	59910578	59910578	+	Silent	SNP	T	T	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr15:59910578T>C	ENST00000396065.1	+	3	589	c.141T>C	c.(139-141)tcT>tcC	p.S47S	GCNT3_ENST00000560585.1_Silent_p.S47S	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	47					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGGGAATCTCAAAGCCAGT	0.502																																																0			15											103	108	106					15																	59910578		2190	4290	6480	57697870	SO:0001819	synonymous_variant	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.141T>C	15.37:g.59910578T>C			57697870		Silent	SNP	ENST00000396065.1	37	CCDS10172.1																																																																																				0.502	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		C	59910578	T	C	59910578	2	2	429	1	0	0	0	0	0	0	0	1	6302	1538	54	4		4	GCNT3	15	59910578	Silent	SNP	T	TCGA-61-1895-01A-01W-0639-09		59910578	42620814	41	23635											
TLN2	83660	genome.wustl.edu	37	15	63014577	63014595	+	Frame_Shift_Del	DEL	CCAAAGCCGCAGTGCCCAC	CCAAAGCCGCAGTGCCCAC	-	rs199685886|rs368082410|rs113672570	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	CCAAAGCCGCAGTGCCCAC	CCAAAGCCGCAGTGCCCAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr15:63014577_63014595delCCAAAGCCGCAGTGCCCAC	ENST00000561311.1	+	25	3247_3265	c.3017_3035delCCAAAGCCGCAGTGCCCAC	c.(3016-3036)gccaaagccgcagtgcccaccfs	p.AKAAVPT1006fs	TLN2_ENST00000306829.6_Frame_Shift_Del_p.AKAAVPT1006fs			Q9Y4G6	TLN2_HUMAN	talin 2	1006	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A1009T(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGTCCTCTGCCAAAGCCGCAGTGCCCACCGTGAGTGAC	0.589																																																1	Substitution - Missense(1)	kidney(1)	15																																								60801887	SO:0001589	frameshift_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3017_3035delCCAAAGCCGCAGTGCCCAC	15.37:g.63014577_63014595delCCAAAGCCGCAGTGCCCAC	ENSP00000453508:p.Ala1006fs		60801869	A6NLB8	Frame_Shift_Del	DEL	ENST00000561311.1	37	CCDS32261.1																																																																																				0.589	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			-	63014595	CCAAAGCCGCAGTGCCCAC	-	63014577	7	5	429	1	0	1	0	1	0	0	0	0	15948	739	26	0	3107	0	TLN2	15	63014577	Frame_Shift_Del	DEL	CCAAAGCCGCAGTGCCCAC	TCGA-61-1895-01A-01W-0639-09	3103999	63014577	39516815	42	23636											
WDR61	80349	genome.wustl.edu	37	15	78575864	78575864	+	Splice_Site	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr15:78575864C>T	ENST00000267973.2	-	11	1100		c.e11-1		RP11-762H8.4_ENST00000558192.1_RNA|WDR61_ENST00000558311.1_Splice_Site|WDR61_ENST00000558459.1_Splice_Site|WDR61_ENST00000559332.1_Splice_Site			Q9GZS3	WDR61_HUMAN	WD repeat domain 61						histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTCCCCAGACCTGTAAATTTA	0.294																																																0			15											101	100	100					15																	78575864		2195	4293	6488	76362919	SO:0001630	splice_region_variant	80349				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"WD repeat domain containing"	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.829-1G>A	15.37:g.78575864C>T			76362919	D3DW84|Q6IA22|Q7Z4X4	Splice_Site	SNP	ENST00000267973.2	37	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454953	0.84209	.	.	ENSG00000140395	ENST00000267973	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9964	0.92815	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR61	76362919	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.656000	0.83736	2.808000	0.96608	0.655000	0.94253	.		0.294	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234	Intron	T	78575864	C	T	78575864	5	4	429	1	0	0	0	0	0	0	1	0	17312	695	24	2	93	2	WDR61	15	78575864	Splice_Site	SNP	C	TCGA-61-1895-01A-01W-0639-09	15561287	78575864	23955528	43	23637											
PPL	5493	genome.wustl.edu	37	16	4935526	4935526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr16:4935526C>A	ENST00000345988.2	-	22	3219	c.3130G>T	c.(3130-3132)Gag>Tag	p.E1044*	PPL_ENST00000590782.2_Nonsense_Mutation_p.E1042*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1044					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGGCTCTTCTCTTCAGCCAGG	0.652																																																0			16											33	37	36					16																	4935526		2197	4299	6496	4875527	SO:0001587	stop_gained	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3130G>T	16.37:g.4935526C>A	ENSP00000340510:p.Glu1044*		4875527	O60314|O60454|Q14C98	Nonsense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	37	6.206787	0.97376	.	.	ENSG00000118898	ENST00000345988	.	.	.	4.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.415	0.55488	0.0:0.9138:0.0:0.0862	.	.	.	.	X	1044	.	ENSP00000340510:E1044X	E	-	1	0	PPL	4875527	1.000000	0.71417	0.744000	0.31058	0.041000	0.13682	6.037000	0.70956	1.010000	0.39314	-0.378000	0.06908	GAG		0.652	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		A	4935526	C	A	4935526	4	1	429	1	0	0	0	0	0	1	0	0	12337	922	32	3	2144	3	PPL	16	4935526	Nonsense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09		4935526	85419227	44	23638											
ZFHX3	463	genome.wustl.edu	37	16	72828212	72828212	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr16:72828212T>A	ENST00000268489.5	-	9	9041	c.8369A>T	c.(8368-8370)aAa>aTa	p.K2790I	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1876I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2790					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCCATGGTTTTACTCACAGG	0.478																																																0			16											81	84	83					16																	72828212		2198	4300	6498	71385713	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8369A>T	16.37:g.72828212T>A	ENSP00000268489:p.Lys2790Ile		71385713	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802174	0.31869	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.77489	-1.1;-1.07	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000062	D	0.86314	0.5903	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87176	0.2224	10	0.66056	D	0.02	.	16.4311	0.83844	0.0:0.0:0.0:1.0	.	2790	Q15911	ZFHX3_HUMAN	I	2790;1876	ENSP00000268489:K2790I;ENSP00000438926:K1876I	ENSP00000268489:K2790I	K	-	2	0	ZFHX3	71385713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.242000	0.72376	2.277000	0.76020	0.528000	0.53228	AAA		0.478	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72828212	T	A	72828212	3	1	429	1	0	0	0	0	1	0	0	0	17634	1841	64	5	2750	5	ZFHX3	16	72828212	Missense_Mutation	SNP	T	TCGA-61-1895-01A-01W-0639-09	67892686	72828212	17526541	45	23639											
CNTNAP4	85445	genome.wustl.edu	37	16	76572045	76572045	+	Missense_Mutation	SNP	G	G	A	rs143077619|rs199555645	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr16:76572045G>A	ENST00000476707.1	+	18	3176	c.3037G>A	c.(3037-3039)Gtg>Atg	p.V1013M	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.V1009M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V961M|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V937M|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1010					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGCTCATCCGTGATATACAA	0.289													G|||	3	0.000599042	0.0023	0	5008	,	,		11728	0		0	False		,,,				2504	0															0			16						G	MET/VAL,MET/VAL	1,3565		0,1,1782	18	17	17		3027,2809	4.4	1	16	dbSNP_134	17	2,8110		0,2,4054	no	missense,missense	CNTNAP4	NM_033401.3,NM_138994.3	21,21	0,3,5836	AA,AG,GG		0.0247,0.028,0.0257	benign,benign	1010/1309,937/1236	76572045	3,11675	1783	4056	5839	75129546	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3037G>A	16.37:g.76572045G>A	ENSP00000417628:p.Val1013Met		75129546	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.70	2.314714	0.40996	2.8E-4	2.47E-4	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.35	4.39	0.52855	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.204155	0.24074	N	0.041790	T	0.35219	0.0924	.	.	.	0.34742	D	0.730908	P;P;B	0.42827	0.791;0.468;0.088	B;B;B	0.32624	0.149;0.104;0.03	T	0.50250	-0.8850	9	0.32370	T	0.25	.	16.2718	0.82624	0.0:0.1325:0.8675:0.0	.	937;1013;1010	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	M	1009;961;937;1013	ENSP00000306893:V1009M;ENSP00000439733:V961M;ENSP00000418741:V937M;ENSP00000417628:V1013M	ENSP00000306893:V1009M	V	+	1	0	CNTNAP4	75129546	0.999000	0.42202	0.968000	0.41197	0.961000	0.63080	2.858000	0.48356	1.463000	0.47967	0.655000	0.94253	GTG		0.289	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		A	76572045	G	A	76572045	3	1	429	1	0	0	0	0	1	0	0	0	3649	1145	40	1	3115	1	CNTNAP4	16	76572045	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	3743833	76572045	13782708	46	23640											
TP53	7157	genome.wustl.edu	37	17	7578443	7578444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:7578443_7578444insG	ENST00000269305.4	-	5	675_676	c.486_487insC	c.(484-489)atctacfs	p.Y163fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y163fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y163fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y163fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y163fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.Y163fs	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162I(4)|p.I162_Y163>N(3)|p.I162M(3)|p.Y163fs*7(2)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.V157_I162delVRAMAI(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	GACTGCTTGTAGATGGCCATGG	0.624		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"	81	Substitution - Missense(49)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)	breast(16)|lung(12)|liver(8)|haematopoietic_and_lymphoid_tissue(7)|skin(6)|large_intestine(5)|ovary(5)|stomach(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	17																																								7519169	SO:0001589	frameshift_variant	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.487dupC	17.37:g.7578444_7578444dupG	ENSP00000269305:p.Tyr163fs		7519168	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.624	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578444	-	G	7578443	7	5	429	1	0	1	1	0	0	0	0	0	16381	420	15	0	811	0	TP53	17	7578443	Frame_Shift_Ins	INS	-	TCGA-61-1895-01A-01W-0639-09		7578443	73616767	47	23641											
CHD3	1107	genome.wustl.edu	37	17	7796604	7796604	+	Splice_Site	SNP	G	G	T	rs367543897		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:7796604G>T	ENST00000330494.7	+	5	660	c.510G>T	c.(508-510)agG>agT	p.R170S	CHD3_ENST00000358181.4_Splice_Site_p.R170S|CHD3_ENST00000380358.4_Splice_Site_p.R229S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	170					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATATTTACAGGCCCCTAATTG	0.453																																																0			17											45	42	43					17																	7796604		2203	4300	6503	7737329	SO:0001630	splice_region_variant	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.510-1G>T	17.37:g.7796604G>T			7737329	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.45|16.45	3.126074|3.126074	0.56721|0.56721	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|T;D;D	.|0.95272	.|2.3;-3.66;-3.66	4.65|4.65	4.65|4.65	0.58169|0.58169	.|High mobility group, HMG1/HMG2 (1);CHD, N-terminal (1);	.|0.000000	.|0.51477	.|D	.|0.000083	D|D	0.97269|0.97269	0.9107|0.9107	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.64830	.|0.989;0.991;0.994	.|D;D;D	.|0.76071	.|0.978;0.987;0.985	D|D	0.97489|0.97489	1.0052|1.0052	5|9	.|.	.|.	.|.	.|.	17.7258|17.7258	0.88365|0.88365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|170;170;229	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	S|S	45|229;170;170	.|ENSP00000369716:R229S;ENSP00000350907:R170S;ENSP00000332628:R170S	.|.	A|R	+|+	1|3	0|2	CHD3|CHD3	7737329|7737329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.439000|7.439000	0.80444|0.80444	2.411000|2.411000	0.81874|0.81874	0.561000|0.561000	0.74099|0.74099	GCC|AGG		0.453	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	Missense_Mutation	T	7796604	G	T	7796604	5	4	429	1	0	0	0	0	0	0	1	0	3326	1217	42	3	809	3	CHD3	17	7796604	Splice_Site	SNP	G	TCGA-61-1895-01A-01W-0639-09	218161	7796604	73398606	48	23642											
LRRC48	83450	genome.wustl.edu	37	17	17891293	17891293	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:17891293G>A	ENST00000399187.1	+	5	543	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	LRRC48_ENST00000584166.1_Missense_Mutation_p.V109M|LRRC48_ENST00000411504.2_Missense_Mutation_p.V109M|LRRC48_ENST00000313838.8_Missense_Mutation_p.V109M|LRRC48_ENST00000399182.1_Missense_Mutation_p.V109M	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	109						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGACACACTGGTGAACCTGGA	0.577																																																0			17											82	83	83					17																	17891293		2020	4175	6195	17832018	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.325G>A	17.37:g.17891293G>A	ENSP00000382140:p.Val109Met		17832018	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753677	0.69648	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.11	3.06	0.35304	.	0.549115	0.19416	N	0.114816	T	0.59238	0.2179	L	0.49513	1.565	0.80722	D	1	D;D	0.61697	0.99;0.99	D;P	0.65684	0.937;0.861	T	0.56968	-0.7891	10	0.45353	T	0.12	-40.2023	5.9031	0.18978	0.1608:0.0:0.6843:0.1549	.	109;109	Q9H069;Q9H069-2	LRC48_HUMAN;.	M	109	ENSP00000326870:V109M;ENSP00000394020:V109M;ENSP00000382140:V109M;ENSP00000382136:V109M	ENSP00000326870:V109M	V	+	1	0	LRRC48	17832018	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	2.531000	0.45650	1.119000	0.41883	0.655000	0.94253	GTG		0.577	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		A	17891293	G	A	17891293	3	1	429	1	0	0	0	0	1	0	0	0	9005	1261	44	2	335	2	LRRC48	17	17891293	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	10094689	17891293	63303917	49	23643											
NF1	4763	genome.wustl.edu	37	17	29587362	29587390	+	Splice_Site	DEL	TTCTAATGACTTTGCATTTTTGAAGGTTT	TTCTAATGACTTTGCATTTTTGAAGGTTT	-	rs181462219|rs373847117		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	TTCTAATGACTTTGCATTTTTGAAGGTTT	TTCTAATGACTTTGCATTTTTGAAGGTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:29587362_29587390delTTCTAATGACTTTGCATTTTTGAAGGTTT	ENST00000358273.4	+	34	4813_4817	c.4430_4434delTTCTAATGACTTTGCATTTTTGAAGGTTT	c.(4429-4434)attcta>a	p.IL1477fs	NF1_ENST00000356175.3_Splice_Site_p.IL1456fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1477					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGTTGAAAATTCTAATGACTTTGCATTTTTGAAGGTTTTTCCTTGATA	0.341			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|large_intestine(1)	17	GRCh37	CS000876|CS072255|CS086423	NF1	S																																				26611516	SO:0001630	splice_region_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4431-1TTCTAATGACTTTGCATTTTTGAAGGTTT>-	17.37:g.29587362_29587390delTTCTAATGACTTTGCATTTTTGAAGGTTT			26611488	O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.341	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Frame_Shift_Del	-	29587390	TTCTAATGACTTTGCATTTTTGAAGGTTT	-	29587362	8	5	429	1	0	1	0	1	0	0	1	0	10356	1508	52	0		0	NF1	17	29587362	Splice_Site	DEL	TTCTAATGACTTTGCATTTTTGAAGGTTT	TCGA-61-1895-01A-01W-0639-09	11696069	29587362	51607848	50	23644											
ITGA2B	3674	genome.wustl.edu	37	17	42454390	42454390	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:42454390G>T	ENST00000262407.5	-	22	2285	c.2254C>A	c.(2254-2256)Ctg>Atg	p.L752M	ITGA2B_ENST00000353281.4_Missense_Mutation_p.L752M	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	752			L -> V (in GT). {ECO:0000269|PubMed:12083483}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CGTATCTGCAGCTGGAAGGAC	0.612																																																0			17	GRCh37	CM021111	ITGA2B	M							77	58	64					17																	42454390		2202	4299	6501	39809916	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2254C>A	17.37:g.42454390G>T	ENSP00000262407:p.Leu752Met		39809916	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890835	0.52014	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.57107	0.42;0.42	4.9	3.94	0.45596	Integrin alpha-2 (1);	0.000000	0.28583	N	0.014829	T	0.62539	0.2436	M	0.72894	2.215	0.80722	D	1	D;D	0.58970	0.983;0.984	P;P	0.62560	0.904;0.899	T	0.60747	-0.7202	10	0.31617	T	0.26	.	6.1601	0.20360	0.094:0.0:0.7219:0.1841	.	350;752	Q59FA8;P08514	.;ITA2B_HUMAN	M	752	ENSP00000262407:L752M;ENSP00000340536:L752M	ENSP00000262407:L752M	L	-	1	2	ITGA2B	39809916	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.790000	0.38734	1.299000	0.44798	0.561000	0.74099	CTG		0.612	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			T	42454390	G	T	42454390	3	4	429	1	0	0	0	0	1	0	0	0	7876	962	34	3	901	3	ITGA2B	17	42454390	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	12867028	42454390	38740820	51	23645											
DSG4	147409	genome.wustl.edu	37	18	28993448	28993448	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr18:28993448C>A	ENST00000308128.4	+	16	3148	c.3013C>A	c.(3013-3015)Caa>Aaa	p.Q1005K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.Q1024K	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1005					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAAGTGATGCAAATGATGAG	0.478																																																0			18											112	112	112					18																	28993448		2203	4300	6503	27247446	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.3013C>A	18.37:g.28993448C>A	ENSP00000311859:p.Gln1005Lys		27247446	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	5.553	0.286852	0.10513	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.59083	0.36;0.29	5.32	5.32	0.75619	.	.	.	.	.	T	0.50343	0.1610	L	0.54323	1.7	0.36887	D	0.889684	B;B	0.29988	0.264;0.049	B;B	0.27170	0.077;0.016	T	0.54523	-0.8281	9	0.02654	T	1	.	18.5974	0.91234	0.0:1.0:0.0:0.0	.	1024;1005	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	K	1005;1024	ENSP00000311859:Q1005K;ENSP00000352785:Q1024K	ENSP00000311859:Q1005K	Q	+	1	0	DSG4	27247446	0.982000	0.34865	0.871000	0.34182	0.081000	0.17604	3.134000	0.50538	2.487000	0.83934	0.591000	0.81541	CAA		0.478	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		A	28993448	C	A	28993448	3	1	429	1	0	0	0	0	1	0	0	0	4779	711	25	3	3196	3	DSG4	18	28993448	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09		28993448	49083800	52	23646											
ATP8B1	5205	genome.wustl.edu	37	18	55338804	55338804	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr18:55338804G>C	ENST00000283684.4	-	16	1827	c.1828C>G	c.(1828-1830)Cca>Gca	p.P610A	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.P610A|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	610					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTGCCTTCTGGGGTTCTTACT	0.373																																																0			18											140	123	129					18																	55338804		2203	4300	6503	53489802	SO:0001583	missense	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1828C>G	18.37:g.55338804G>C	ENSP00000283684:p.Pro610Ala		53489802	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150085	0.57151	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.70282	-0.47;-0.47	6.02	6.02	0.97574	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.052054	0.85682	D	0.000000	T	0.74207	0.3686	M	0.83603	2.65	0.80722	D	1	B	0.21606	0.058	B	0.22152	0.038	T	0.72577	-0.4251	10	0.72032	D	0.01	.	14.6737	0.68964	0.0707:0.0:0.9293:0.0	.	610	O43520	AT8B1_HUMAN	A	610	ENSP00000283684:P610A;ENSP00000445359:P610A	ENSP00000283684:P610A	P	-	1	0	ATP8B1	53489802	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.136000	0.58004	2.865000	0.98341	0.655000	0.94253	CCA		0.373	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		C	55338804	G	C	55338804	3	2	429	1	0	0	0	0	1	0	0	0	1194	1232	43	3	1975	3	ATP8B1	18	55338804	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09	26345356	55338804	22738444	53	23647											
ZNF790	388536	genome.wustl.edu	37	19	37309643	37309643	+	Missense_Mutation	SNP	C	C	T	rs199662090		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr19:37309643C>T	ENST00000356725.4	-	5	1723	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	535					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTTTACATACGTAAGGTTCC	0.403																																																0			19						C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	115	112	113		1603,1603,1603,1603	-1.6	0	19		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ZNF790	NM_001242800.1,NM_001242801.1,NM_001242802.1,NM_206894.3	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	535/637,535/637,535/637,535/637	37309643	1,13005	2203	4300	6503	42001483	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1603G>A	19.37:g.37309643C>T	ENSP00000349161:p.Val535Ile		42001483		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296278	0.40594	0.0	1.16E-4	ENSG00000197863	ENST00000356725	T	0.18810	2.19	3.32	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13798	0.0334	L	0.42632	1.34	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.34254	-0.9836	9	0.54805	T	0.06	.	1.154	0.01792	0.149:0.3085:0.1467:0.3957	.	535	Q6PG37	ZN790_HUMAN	I	535	ENSP00000349161:V535I	ENSP00000349161:V535I	V	-	1	0	ZNF790	42001483	0.000000	0.05858	0.002000	0.10522	0.902000	0.53008	-4.050000	0.00305	-0.313000	0.08728	-0.332000	0.08345	GTA		0.403	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		T	37309643	C	T	37309643	3	4	429	1	0	0	0	0	1	0	0	0	18162	536	19	1	311	1	ZNF790	19	37309643	Missense_Mutation	SNP	C	TCGA-61-1895-01A-01W-0639-09		37309643	21819340	54	23648											
NCOA3	8202	genome.wustl.edu	37	20	46265284	46265284	+	Silent	SNP	C	C	T	rs371484815		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr20:46265284C>T	ENST00000371998.3	+	12	2345	c.2154C>T	c.(2152-2154)gaC>gaT	p.D718D	NCOA3_ENST00000371997.3_Silent_p.D728D|NCOA3_ENST00000341724.6_Silent_p.D728D|NCOA3_ENST00000372004.3_Silent_p.D718D			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	718					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTTGTGGGGACGGAAATGTTG	0.473																																																0			20						C	,,,	0,4406		0,0,2203	85	78	80		2154,2184,2154,2154	-10.1	0	20		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	718/1424,728/1416,718/1421,718/1425	46265284	1,13005	2203	4300	6503	45698691	SO:0001819	synonymous_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2154C>T	20.37:g.46265284C>T			45698691	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.473	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		T	46265284	C	T	46265284	2	4	429	1	0	0	0	0	0	0	0	1	10230	535	19	1		1	NCOA3	20	46265284	Silent	SNP	C	TCGA-61-1895-01A-01W-0639-09		46265284	16760236	55	23649											
MXRA5	25878	genome.wustl.edu	37	X	3235591	3235591	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chrX:3235591G>A	ENST00000217939.6	-	6	6285	c.6131C>T	c.(6130-6132)gCa>gTa	p.A2044V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2044						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGGGGCAGTGCCGCCACGTG	0.647																																																0			X											26	22	23					X																	3235591		2200	4298	6498	3245591	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6131C>T	X.37:g.3235591G>A	ENSP00000217939:p.Ala2044Val		3245591	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	15.14	2.745735	0.49151	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.77750	-1.12	3.63	3.63	0.41609	Immunoglobulin-like fold (1);	0.000000	0.36628	U	0.002484	T	0.76884	0.4050	L	0.43152	1.355	0.09310	N	1	P	0.48503	0.911	P	0.49226	0.603	T	0.70949	-0.4733	10	0.52906	T	0.07	.	15.1094	0.72343	0.0:0.0:1.0:0.0	.	2044	Q9NR99	MXRA5_HUMAN	V	2044	ENSP00000217939:A2044V	ENSP00000217939:A2044V	A	-	2	0	MXRA5	3245591	0.997000	0.39634	0.076000	0.20297	0.802000	0.45316	4.002000	0.57053	1.440000	0.47531	0.597000	0.82753	GCA		0.647	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3235591	G	A	3235591	3	1	429	1	0	0	0	0	1	0	0	0	10003	1319	46	2	2363	2	MXRA5	23	3235591	Missense_Mutation	SNP	G	TCGA-61-1895-01A-01W-0639-09		3235591	152034969	56	23650											
IL28RA	163702	genome.wustl.edu	37	1	24484051	24484051	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr1:24484051C>T	ENST00000327535.1	-	7	1144	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	IFNLR1_ENST00000374421.3_Missense_Mutation_p.E349K|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	378					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GAGGAGCCTTCGCTTGGGACC	0.627																																																0			1											35	37	36					1																	24484051		2203	4300	6503	24356638	SO:0001583	missense	163702			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1132G>A	1.37:g.24484051C>T	ENSP00000327824:p.Glu378Lys		24356638	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	CCDS248.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365390	0.61513	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.52	1.41	0.22369	.	7.169420	0.00166	N	0.000000	T	0.39172	0.1068	L	0.56769	1.78	0.09310	N	1	B;B	0.27971	0.123;0.196	B;B	0.14578	0.005;0.011	T	0.14364	-1.0475	9	0.46703	T	0.11	0.0475	5.2643	0.15591	0.0:0.6019:0.1479:0.2503	.	378;349	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	K	378;349	.	ENSP00000327824:E378K	E	-	1	0	IL28RA	24356638	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.136000	0.10405	0.073000	0.16731	-0.140000	0.14226	GAA		0.627	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		T	24484051	C	T	24484051	3	4	430	1	0	0	0	0	1	0	0	0	7684	893	31	1	434	1	IL28RA	1	24484051	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09		24484051	224766570	1	23651											
RPAP2	79871	genome.wustl.edu	37	1	92846389	92846394	+	In_Frame_Del	DEL	AAGTCT	AAGTCT	-	rs369665737		TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	AAGTCT	AAGTCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr1:92846389_92846394delAAGTCT	ENST00000610020.1	+	12	1906_1911	c.1797_1802delAAGTCT	c.(1795-1803)gaaagtcta>gaa	p.SL600del		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	600					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAGACCTTGAAAGTCTAACCATCATA	0.35																																																0			1																																								92618982	SO:0001651	inframe_deletion	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1797_1802delAAGTCT	1.37:g.92846389_92846394delAAGTCT	ENSP00000476948:p.Ser600_Leu601del		92618977	C9JKB5|Q49AS7|Q9H8Y2	In_Frame_Del	DEL	ENST00000610020.1	37	CCDS740.1																																																																																				0.35	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		-	92846394	AAGTCT	-	92846389	7	5	430	1	0	1	0	1	0	0	0	0	13545	11	1	0	1843	0	RPAP2	1	92846389	In_Frame_Del	DEL	AAGTCT	TCGA-61-1899-01A-01W-0639-09	68362338	92846389	156404232	2	23652											
RNF115	27246	genome.wustl.edu	37	1	145682024	145682024	+	Splice_Site	SNP	A	A	G			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr1:145682024A>G	ENST00000369291.5	+	5	634	c.430A>G	c.(430-432)Ata>Gta	p.I144V		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CTGTAACAGAATACTACAACA	0.358																																																0			1											172	167	169					1																	145682024		2203	4300	6503	144393381	SO:0001630	splice_region_variant	27246			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"RING-type (C3HC4) zinc fingers"	18154	protein-coding gene	gene with protein product			"zinc finger protein 364"	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.429-1A>G	1.37:g.145682024A>G			144393381		Missense_Mutation	SNP	ENST00000369291.5	37	CCDS922.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486582	0.26686	.	.	ENSG00000121848	ENST00000369291	T	0.13420	2.59	4.82	2.37	0.29283	.	0.107337	0.64402	N	0.000007	T	0.03053	0.0090	L	0.39566	1.225	0.45227	D	0.998234	B	0.06786	0.001	B	0.08055	0.003	T	0.32771	-0.9894	10	0.12103	T	0.63	-4.3691	7.2843	0.26328	0.8008:0.0:0.1992:0.0	.	144	Q9Y4L5	RN115_HUMAN	V	144	ENSP00000358297:I144V	ENSP00000358297:I144V	I	+	1	0	RNF115	144393381	1.000000	0.71417	0.998000	0.56505	0.525000	0.34531	3.040000	0.49799	0.297000	0.22615	0.533000	0.62120	ATA		0.358	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455	Missense_Mutation	G	145682024	A	G	145682024	5	3	430	1	0	0	0	0	0	0	1	0	13433	115	4	4	448	4	RNF115	1	145682024	Splice_Site	SNP	A	TCGA-61-1899-01A-01W-0639-09	52835635	145682024	103568597	3	23653											
BAT2L2	23215	genome.wustl.edu	37	1	171504669	171504669	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr1:171504669C>T	ENST00000338920.4	+	13	2207	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L	PRRC2C_ENST00000426496.2_Missense_Mutation_p.P657L|PRRC2C_ENST00000367742.3_Missense_Mutation_p.P659L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P659L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	657					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CAACCTCGGCCGGCTGTATTA	0.448																																																0			1											120	130	127					1																	171504669		2203	4300	6503	169771293	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1970C>T	1.37:g.171504669C>T	ENSP00000343629:p.Pro657Leu		169771293	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498042	0.44455	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.29	4.39	0.52855	.	0.145393	0.31784	N	0.007079	T	0.05273	0.0140	M	0.68593	2.085	0.80722	D	1	B	0.31640	0.333	B	0.22880	0.042	T	0.06320	-1.0833	10	0.87932	D	0	.	14.2013	0.65707	0.0:0.9278:0.0:0.0722	.	657	Q9Y520-4	.	L	659;658;657;659;657;414;416	ENSP00000375928:P659L;ENSP00000410219:P657L;ENSP00000356716:P659L;ENSP00000343629:P657L	ENSP00000343629:P657L	P	+	2	0	PRRC2C	169771293	1.000000	0.71417	0.993000	0.49108	0.879000	0.50718	5.094000	0.64523	1.233000	0.43693	-0.123000	0.14984	CCG		0.448	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		T	171504669	C	T	171504669	3	4	430	1	0	0	0	0	1	0	0	0	1321	652	23	1	2016	1	BAT2L2	1	171504669	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09	25822645	171504669	77745952	4	23654											
NPHS2	7827	genome.wustl.edu	37	1	179528829	179528829	+	Silent	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr1:179528829C>T	ENST00000367615.4	-	4	587	c.519G>A	c.(517-519)gaG>gaA	p.E173E	NPHS2_ENST00000367616.4_Silent_p.E173E	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	173					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAAAGGTATCTCCAGAGTTT	0.393																																																0			1											58	50	53					1																	179528829		2203	4299	6502	177795452	SO:0001819	synonymous_variant	7827			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.519G>A	1.37:g.179528829C>T			177795452	B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	CCDS1331.1																																																																																				0.393	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			T	179528829	C	T	179528829	2	4	430	1	0	0	0	0	0	0	0	1	10583	912	32	2		2	NPHS2	1	179528829	Silent	SNP	C	TCGA-61-1899-01A-01W-0639-09	8024160	179528829	69721792	5	23655											
RGS1	5996	genome.wustl.edu	37	1	192545962	192545962	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr1:192545962C>A	ENST00000367459.3	+	3	343	c.277C>A	c.(277-279)Caa>Aaa	p.Q93K	RGS1_ENST00000469578.2_Missense_Mutation_p.Q93K	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	93	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TCTTGCCAACCAAAGTAAGTA	0.338																																																0			1											121	122	121					1																	192545962		2203	4300	6503	190812585	SO:0001583	missense	5996			AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"Regulators of G-protein signaling"	9991	protein-coding gene	gene with protein product		600323	"regulator of G-protein signalling 1"	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.277C>A	1.37:g.192545962C>A	ENSP00000356429:p.Gln93Lys		190812585	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141173	0.37825	.	.	ENSG00000090104	ENST00000367459	T	0.27557	1.66	5.91	3.9	0.45041	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.330083	0.30134	N	0.010322	T	0.08626	0.0214	N	0.00985	-1.075	0.38736	D	0.953781	B;B	0.17268	0.021;0.007	B;B	0.12837	0.008;0.002	T	0.24119	-1.0169	10	0.02654	T	1	.	10.2189	0.43186	0.1404:0.5952:0.2643:0.0	.	93;93	Q08116-2;Q08116	.;RGS1_HUMAN	K	93	ENSP00000356429:Q93K	ENSP00000356429:Q93K	Q	+	1	0	RGS1	190812585	0.927000	0.31430	0.997000	0.53966	0.975000	0.68041	1.620000	0.36976	1.466000	0.48025	0.650000	0.86243	CAA		0.338	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		A	192545962	C	A	192545962	3	1	430	1	0	0	0	0	1	0	0	0	13295	595	21	3	287	3	RGS1	1	192545962	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09	13017133	192545962	56704659	6	23656											
OR2M4	26245	genome.wustl.edu	37	1	248402273	248402273	+	Silent	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr1:248402273C>T	ENST00000306687.1	+	1	43	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	15					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTCATCCTGCTGGGAATCTT	0.428																																																0			1											122	120	120					1																	248402273		2203	4300	6503	246468896	SO:0001819	synonymous_variant	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.43C>T	1.37:g.248402273C>T			246468896	Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	CCDS31108.1																																																																																				0.428	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		T	248402273	C	T	248402273	2	4	430	1	0	0	0	0	0	0	0	1	11012	796	28	2		2	OR2M4	1	248402273	Silent	SNP	C	TCGA-61-1899-01A-01W-0639-09	55856311	248402273	848348	7	23657											
SLC5A6	8884	genome.wustl.edu	37	2	27427730	27427730	+	Silent	SNP	G	G	C	rs376306193		TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr2:27427730G>C	ENST00000310574.3	-	8	1277	c.804C>G	c.(802-804)ctC>ctG	p.L268L	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Silent_p.L268L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	268					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CGTATAAGGAGAGCATCATGA	0.587																																																0			2						G		0,4406		0,0,2203	103	95	98		804	-2.5	1	2		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC5A6	NM_021095.2		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		268/636	27427730	1,13005	2203	4300	6503	27281234	SO:0001819	synonymous_variant	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.804C>G	2.37:g.27427730G>C			27281234	B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	CCDS1740.1																																																																																				0.587	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		C	27427730	G	C	27427730	2	2	430	1	0	0	0	0	0	0	0	1	14672	929	33	3		3	SLC5A6	2	27427730	Silent	SNP	G	TCGA-61-1899-01A-01W-0639-09		27427730	215771643	8	23658											
EHD3	30845	genome.wustl.edu	37	2	31484511	31484511	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr2:31484511A>G	ENST00000322054.5	+	5	1297	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	338					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCTGGCCGAGATCTATGGCCG	0.567																																																0			2											138	130	133					2																	31484511		2203	4300	6503	31338015	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1012A>G	2.37:g.31484511A>G	ENSP00000327116:p.Ile338Val		31338015	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	9.155	1.017178	0.19355	.	.	ENSG00000013016	ENST00000322054	T	0.19105	2.17	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	L	0.39326	1.205	0.80722	D	1	B	0.22346	0.068	B	0.24006	0.05	T	0.06698	-1.0812	10	0.10111	T	0.7	-20.8036	16.5763	0.84648	1.0:0.0:0.0:0.0	.	338	Q9NZN3	EHD3_HUMAN	V	338	ENSP00000327116:I338V	ENSP00000327116:I338V	I	+	1	0	EHD3	31338015	1.000000	0.71417	0.963000	0.40424	0.055000	0.15305	6.118000	0.71583	2.317000	0.78254	0.459000	0.35465	ATC		0.567	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		G	31484511	A	G	31484511	3	3	430	1	0	0	0	0	1	0	0	0	4979	333	12	4	1030	4	EHD3	2	31484511	Missense_Mutation	SNP	A	TCGA-61-1899-01A-01W-0639-09	4056781	31484511	211714862	9	23659											
LRP1B	53353	genome.wustl.edu	37	2	141660724	141660724	+	Silent	SNP	C	C	G			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr2:141660724C>G	ENST00000389484.3	-	23	4502	c.3531G>C	c.(3529-3531)tcG>tcC	p.S1177S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1177	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTGTTCAGCGAACACTCAT	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0			2											77	66	70					2																	141660724		2203	4300	6503	141377194	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3531G>C	2.37:g.141660724C>G			141377194	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141660724	C	G	141660724	2	3	430	1	0	0	0	0	0	0	0	1	8955	755	27	3		3	LRP1B	2	141660724	Silent	SNP	C	TCGA-61-1899-01A-01W-0639-09	110176213	141660724	101538649	10	23660											
CCDC141	285025	genome.wustl.edu	37	2	179702170	179702170	+	Missense_Mutation	SNP	C	C	A	rs551700764		TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr2:179702170C>A	ENST00000420890.2	-	23	3893	c.3776G>T	c.(3775-3777)gGg>gTg	p.G1259V	CCDC141_ENST00000295723.5_Missense_Mutation_p.G684V|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1259										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGGGCATCCCCTGGGCTGCT	0.532																																																0			2											63	65	64					2																	179702170		2203	4300	6503	179410415	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3776G>T	2.37:g.179702170C>A	ENSP00000395995:p.Gly1259Val		179410415	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	C	13.88	2.369415	0.42003	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.47177	0.85;1.42;1.42	5.71	3.85	0.44370	.	0.771428	0.11797	N	0.528597	T	0.53334	0.1790	L	0.50333	1.59	0.30202	N	0.798552	D;D	0.57571	0.98;0.98	P;P	0.53649	0.731;0.663	T	0.52682	-0.8543	10	0.87932	D	0	-2.1218	9.007	0.36117	0.0:0.6999:0.0:0.3001	.	684;684	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	V	1259;703;684	ENSP00000395995:G1259V;ENSP00000344627:G703V;ENSP00000295723:G684V	ENSP00000295723:G684V	G	-	2	0	CCDC141	179410415	0.220000	0.23631	0.168000	0.22838	0.670000	0.39368	0.064000	0.14437	0.691000	0.31592	-0.355000	0.07637	GGG		0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		A	179702170	C	A	179702170	3	1	430	1	0	0	0	0	1	0	0	0	2775	623	22	3	580	3	CCDC141	2	179702170	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09	38041446	179702170	63497203	11	23661											
GPR1	2825	genome.wustl.edu	37	2	207041527	207041527	+	Nonsense_Mutation	SNP	G	G	A	rs150274953	byFrequency	TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr2:207041527G>A	ENST00000407325.2	-	3	807	c.445C>T	c.(445-447)Cga>Tga	p.R149*	GPR1_ENST00000437420.1_Nonsense_Mutation_p.R149*	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	149					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTGAGGGTTCGATGCCGATGA	0.468													G|||	9	0.00179712	0.0068	0	5008	,	,		21618	0		0	False		,,,				2504	0															0			2						G	stop/ARG,stop/ARG	14,4392	20.2+/-43.8	0,14,2189	106	103	104		445,445	5	0.8	2	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	GPR1	NM_001098199.1,NM_005279.3	,	0,15,6488	AA,AG,GG		0.0116,0.3177,0.1153	,	149/356,149/356	207041527	15,12991	2203	4300	6503	206749772	SO:0001587	stop_gained	2825				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.445C>T	2.37:g.207041527G>A	ENSP00000384345:p.Arg149*		206749772	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Nonsense_Mutation	SNP	ENST00000407325.2	37	CCDS2368.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	31	5.081881	0.94050	0.003177	1.16E-4	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790	.	.	.	5.84	4.96	0.65561	.	0.069594	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2267	0.65863	0.0:0.0:0.6169:0.3831	.	.	.	.	X	149	.	ENSP00000384345:R149X	R	-	1	2	GPR1	206749772	1.000000	0.71417	0.762000	0.31397	0.748000	0.42578	5.450000	0.66626	1.469000	0.48083	0.650000	0.86243	CGA		0.468	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		A	207041527	G	A	207041527	4	1	430	1	0	0	0	0	0	1	0	0	6621	1066	37	1	626	1	GPR1	2	207041527	Nonsense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09	27339357	207041527	36157846	12	23662											
MARCH4	57574	genome.wustl.edu	37	2	217124133	217124133	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr2:217124133A>G	ENST00000273067.4	-	4	2901	c.1135T>C	c.(1135-1137)Tat>Cat	p.Y379H	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	379						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AGGATGGTATAAGCACAGTGG	0.627																																																0			2											75	74	74					2																	217124133		2203	4300	6503	216832378	SO:0001583	missense	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1135T>C	2.37:g.217124133A>G	ENSP00000273067:p.Tyr379His		216832378	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375953	0.82682	.	.	ENSG00000144583	ENST00000273067	T	0.39406	1.08	5.47	5.47	0.80525	.	0.263822	0.39615	N	0.001316	T	0.64034	0.2562	M	0.70275	2.135	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.68078	-0.5504	10	0.87932	D	0	-23.6344	14.7419	0.69461	1.0:0.0:0.0:0.0	.	379	Q9P2E8	MARH4_HUMAN	H	379	ENSP00000273067:Y379H	ENSP00000273067:Y379H	Y	-	1	0	MARCH4	216832378	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.962000	0.93254	2.076000	0.62316	0.459000	0.35465	TAT		0.627	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		G	217124133	A	G	217124133	3	3	430	1	0	0	0	0	1	0	0	0	9303	362	13	4	101	4	MARCH4	2	217124133	Missense_Mutation	SNP	A	TCGA-61-1899-01A-01W-0639-09	10082606	217124133	26075240	13	23663											
CCR3	1232	genome.wustl.edu	37	3	46307517	46307517	+	Missense_Mutation	SNP	G	G	A	rs199944063		TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr3:46307517G>A	ENST00000357422.2	+	4	1411	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	CCR3_ENST00000395942.2_Missense_Mutation_p.A290T|CCR3_ENST00000545097.1_Missense_Mutation_p.A311T|CCR3_ENST00000395940.2_Missense_Mutation_p.A290T|CCR3_ENST00000541018.1_Missense_Mutation_p.A290T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	290					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGAGGTGATCGCCTACTCCCA	0.522																																																0			3											124	104	110					3																	46307517		2203	4300	6503	46282521	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.868G>A	3.37:g.46307517G>A	ENSP00000350003:p.Ala290Thr		46282521	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087145	0.55968	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.73	-0.946	0.10385	GPCR, rhodopsin-like superfamily (1);	0.474665	0.18676	N	0.134312	T	0.48892	0.1525	M	0.86420	2.815	0.21256	N	0.999742	D;D	0.54964	0.962;0.969	P;P	0.51742	0.55;0.678	T	0.44498	-0.9324	10	0.56958	D	0.05	.	1.7135	0.02896	0.2082:0.0981:0.2695:0.4241	.	311;290	F5GWL6;P51677	.;CCR3_HUMAN	T	290;311;290;290;290	ENSP00000350003:A290T;ENSP00000441600:A311T;ENSP00000440097:A290T;ENSP00000379271:A290T;ENSP00000379273:A290T	ENSP00000350003:A290T	A	+	1	0	CCR3	46282521	0.978000	0.34361	0.809000	0.32408	0.505000	0.33919	2.071000	0.41500	-0.249000	0.09569	0.655000	0.94253	GCC		0.522	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			A	46307517	G	A	46307517	3	1	430	1	0	0	0	0	1	0	0	0	2942	1087	38	1	937	1	CCR3	3	46307517	Missense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09		46307517	151714913	14	23664											
CCDC52	152185	genome.wustl.edu	37	3	113176055	113176055	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr3:113176055T>C	ENST00000295872.4	-	13	1844	c.1585A>G	c.(1585-1587)Att>Gtt	p.I529V		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	529					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GGCTCAAAAATATGTGCTGGA	0.448																																																0			3											91	89	90					3																	113176055		2203	4300	6503	114658745	SO:0001583	missense	152185			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1585A>G	3.37:g.113176055T>C	ENSP00000295872:p.Ile529Val		114658745	D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	T	5.006	0.186815	0.09547	.	.	ENSG00000163611	ENST00000295872	T	0.30714	1.52	5.63	-4.67	0.03319	.	0.554011	0.19068	N	0.123569	T	0.11965	0.0291	N	0.10733	0.035	0.19775	N	0.999956	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28170	-1.0052	10	0.12103	T	0.63	-1.7511	12.8099	0.57634	0.0:0.5316:0.0:0.4684	.	425;529	B3KX77;Q8N0Z3	.;SPICE_HUMAN	V	529	ENSP00000295872:I529V	ENSP00000295872:I529V	I	-	1	0	SPICE1	114658745	0.000000	0.05858	0.138000	0.22173	0.961000	0.63080	-2.262000	0.01175	-1.187000	0.02709	-0.411000	0.06167	ATT		0.448	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		C	113176055	T	C	113176055	3	2	430	1	0	0	0	0	1	0	0	0	2822	1406	49	4	1006	4	CCDC52	3	113176055	Missense_Mutation	SNP	T	TCGA-61-1899-01A-01W-0639-09	66868538	113176055	84846375	15	23665											
PIK3CB	5291	genome.wustl.edu	37	3	138383924	138383924	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr3:138383924A>G	ENST00000477593.1	-	19	2699	c.2626T>C	c.(2626-2628)Ttc>Ctc	p.F876L	PIK3CB_ENST00000289153.2_Missense_Mutation_p.F876L|PIK3CB_ENST00000544716.1_Missense_Mutation_p.F327L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	876	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TCTTTGTTGAAGGCTGCTGCA	0.418																																																0			3											81	76	78					3																	138383924		2203	4300	6503	139866614	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2626T>C	3.37:g.138383924A>G	ENSP00000418143:p.Phe876Leu		139866614	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370354	0.82573	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.78481	-1.18;-1.18;-1.18	5.46	5.46	0.80206	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.82829	0.5122	L	0.38953	1.18	0.80722	D	1	D;D;P	0.89917	1.0;0.965;0.854	D;P;B	0.83275	0.996;0.861;0.392	T	0.82703	-0.0326	10	0.41790	T	0.15	-16.7895	15.8404	0.78840	1.0:0.0:0.0:0.0	.	876;463;327	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	L	876;327;876	ENSP00000418143:F876L;ENSP00000438259:F327L;ENSP00000289153:F876L	ENSP00000289153:F876L	F	-	1	0	PIK3CB	139866614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.197000	0.70478	0.454000	0.30748	TTC		0.418	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			G	138383924	A	G	138383924	3	3	430	1	0	0	0	0	1	0	0	0	11914	72	3	4	604	4	PIK3CB	3	138383924	Missense_Mutation	SNP	A	TCGA-61-1899-01A-01W-0639-09	25207869	138383924	59638506	16	23666											
KCNAB1	7881	genome.wustl.edu	37	3	156177657	156177657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr3:156177657G>A	ENST00000490337.1	+	5	543	c.479G>A	c.(478-480)tGg>tAg	p.W160*	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000302490.8_Nonsense_Mutation_p.W142*|KCNAB1_ENST00000389634.5_Nonsense_Mutation_p.W142*|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.W149*|KCNAB1_ENST00000389636.5_Nonsense_Mutation_p.W160*	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	160					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAGAAAGGCTGGAGGTATTGC	0.388																																																0			3											127	133	131					3																	156177657		2203	4300	6503	157660351	SO:0001587	stop_gained	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.479G>A	3.37:g.156177657G>A	ENSP00000419952:p.Trp160*		157660351	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Nonsense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	38	6.652274	0.97734	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4136	14.3062	0.66386	0.0:0.0:1.0:0.0	.	.	.	.	X	78;160;160;149;103;142;142	.	ENSP00000305858:W142X	W	+	2	0	KCNAB1	157660351	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.645000	0.83430	2.501000	0.84356	0.467000	0.42956	TGG		0.388	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		A	156177657	G	A	156177657	4	1	430	1	0	0	0	0	0	1	0	0	8009	1357	47	2	968	2	KCNAB1	3	156177657	Nonsense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09	17793733	156177657	41844773	17	23667											
LYAR	55646	genome.wustl.edu	37	4	4270283	4270283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr4:4270283delT	ENST00000343470.4	-	9	1219	c.979delA	c.(979-981)atafs	p.I327fs	LYAR_ENST00000452476.1_Frame_Shift_Del_p.I327fs	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	327	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGATGGTTATTTCATTGTCT	0.323																																																0			4											221	211	214					4																	4270283		2203	4300	6503	4321184	SO:0001589	frameshift_variant	55646			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.979delA	4.37:g.4270283delT	ENSP00000345917:p.Ile327fs		4321184	D3DVS4|Q6FI78|Q9NYS1	Frame_Shift_Del	DEL	ENST00000343470.4	37	CCDS3374.1																																																																																				0.323	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		-	4270283	T	-	4270283	7	5	430	1	0	1	0	1	0	0	0	0	9103	1493	52	0	168	0	LYAR	4	4270283	Frame_Shift_Del	DEL	T	TCGA-61-1899-01A-01W-0639-09		4270283	186883993	18	23668											
CYTL1	54360	genome.wustl.edu	37	4	5018906	5018906	+	Splice_Site	SNP	C	C	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr4:5018906C>A	ENST00000307746.4	-	2	180	c.154G>T	c.(154-156)Gag>Tag	p.E52*		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	52					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACACATGGCTCCTGTGGAAAG	0.582																																					Colon(15;457 478 29696 43408 47165)											0			4											81	77	79					4																	5018906		2203	4300	6503	5069807	SO:0001630	splice_region_variant	54360			AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.154-1G>T	4.37:g.5018906C>A			5069807		Nonsense_Mutation	SNP	ENST00000307746.4	37	CCDS3379.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853110	0.91355	.	.	ENSG00000170891	ENST00000307746	.	.	.	4.5	4.5	0.54988	.	0.241934	0.41605	D	0.000848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-18.7929	12.5913	0.56445	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	ENSP00000303550:E52X	E	-	1	0	CYTL1	5069807	1.000000	0.71417	0.988000	0.46212	0.867000	0.49689	3.659000	0.54489	2.333000	0.79357	0.555000	0.69702	GAG		0.582	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659	Nonsense_Mutation	A	5018906	C	A	5018906	5	1	430	1	0	0	0	0	0	0	1	0	4208	869	30	3	268	3	CYTL1	4	5018906	Splice_Site	SNP	C	TCGA-61-1899-01A-01W-0639-09	748623	5018906	186135370	19	23669											
CDH10	1008	genome.wustl.edu	37	5	24492938	24492938	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr5:24492938G>C	ENST00000264463.4	-	10	2119	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTATCCTGTACTGTGAAG	0.348										HNSCC(23;0.051)																																						0			5											155	166	162					5																	24492938		2203	4297	6500	24528695	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1612C>G	5.37:g.24492938G>C	ENSP00000264463:p.Gln538Glu		24528695	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192149	0.38707	.	.	ENSG00000040731	ENST00000264463	T	0.58797	0.31	5.04	5.04	0.67666	Cadherin (4);Cadherin-like (1);	0.304873	0.32578	N	0.005909	T	0.50292	0.1607	N	0.20483	0.58	0.27561	N	0.950179	B	0.19200	0.034	B	0.34038	0.174	T	0.51671	-0.8676	10	0.48119	T	0.1	.	17.7384	0.88401	0.0:0.0:1.0:0.0	.	538	Q9Y6N8	CAD10_HUMAN	E	538	ENSP00000264463:Q538E	ENSP00000264463:Q538E	Q	-	1	0	CDH10	24528695	0.998000	0.40836	0.996000	0.52242	0.948000	0.59901	4.248000	0.58760	2.506000	0.84524	0.585000	0.79938	CAG		0.348	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		C	24492938	G	C	24492938	3	2	430	1	0	0	0	0	1	0	0	0	3096	1386	48	3	766	3	CDH10	5	24492938	Missense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09		24492938	156422322	20	23670											
F2R	2149	genome.wustl.edu	37	5	76028582	76028582	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr5:76028582G>A	ENST00000319211.4	+	2	797	c.532G>A	c.(532-534)Gtc>Atc	p.V178I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	178					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GTGTCGCTTCGTCACTGCAGC	0.488																																																0			5											202	199	200					5																	76028582		2203	4300	6503	76064338	SO:0001583	missense	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.532G>A	5.37:g.76028582G>A	ENSP00000321326:p.Val178Ile		76064338	Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	G	7.772	0.707740	0.15239	.	.	ENSG00000181104	ENST00000319211	T	0.38077	1.16	4.89	0.978	0.19740	GPCR, rhodopsin-like superfamily (1);	0.128399	0.52532	N	0.000073	T	0.31575	0.0801	L	0.58969	1.84	0.80722	D	1	B	0.22800	0.075	B	0.21360	0.034	T	0.10200	-1.0640	10	0.45353	T	0.12	-15.3103	9.8842	0.41251	0.3637:0.0:0.6363:0.0	.	178	P25116	PAR1_HUMAN	I	178	ENSP00000321326:V178I	ENSP00000321326:V178I	V	+	1	0	F2R	76064338	0.987000	0.35691	0.180000	0.23079	0.024000	0.10985	1.893000	0.39758	0.052000	0.16007	0.561000	0.74099	GTC		0.488	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			A	76028582	G	A	76028582	3	1	430	1	0	0	0	0	1	0	0	0	5343	1145	40	1	538	1	F2R	5	76028582	Missense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09	51535644	76028582	104886678	21	23671											
C5orf40	408263	genome.wustl.edu	37	5	156770193	156770193	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr5:156770193C>A	ENST00000312349.4	-	2	539	c.352G>T	c.(352-354)Gcc>Tcc	p.A118S	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	118						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AGCAGAATGGCCATCAGCACC	0.587											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			5											72	71	71					5																	156770193		2203	4300	6503	156702771	SO:0001583	missense	408263			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.352G>T	5.37:g.156770193C>A	ENSP00000310594:p.Ala118Ser	1781	156702771	A8K0Y6	Missense_Mutation	SNP	ENST00000312349.4	37	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	C	5.798	0.331510	0.10956	.	.	ENSG00000172568	ENST00000312349;ENST00000520782	T;T	0.21543	2.0;2.05	4.98	4.1	0.47936	.	0.284190	0.27861	N	0.017559	T	0.07007	0.0178	N	0.02916	-0.46	0.33734	D	0.618626	B	0.18310	0.027	B	0.17722	0.019	T	0.22836	-1.0205	10	0.09338	T	0.73	-0.9131	5.9994	0.19511	0.1896:0.709:0.0:0.1014	.	118	Q8TBE3	FNDC9_HUMAN	S	118	ENSP00000310594:A118S;ENSP00000429434:A118S	ENSP00000310594:A118S	A	-	1	0	FNDC9	156702771	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	2.876000	0.48498	1.064000	0.40671	0.491000	0.48974	GCC		0.587	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		A	156770193	C	A	156770193	3	1	430	1	0	0	0	0	1	0	0	0	2299	739	26	3	326	3	C5orf40	5	156770193	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09	80741611	156770193	24145067	22	23672											
SYCP2L	221711	genome.wustl.edu	37	6	10907843	10907843	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr6:10907843C>A	ENST00000283141.6	+	10	1041	c.745C>A	c.(745-747)Ctt>Att	p.L249I	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.L90I	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	249						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAGGGATGAACTTGTCCATAA	0.373																																																0			6											130	124	126					6																	10907843		1843	4094	5937	11015829	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.745C>A	6.37:g.10907843C>A	ENSP00000283141:p.Leu249Ile		11015829	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949641	0.34377	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.52295	0.67;1.93	5.48	1.54	0.23209	.	0.476872	0.21043	N	0.081126	T	0.43567	0.1253	M	0.78637	2.42	0.80722	D	1	P;D	0.61697	0.944;0.99	P;P	0.53146	0.719;0.701	T	0.41324	-0.9515	10	0.48119	T	0.1	.	8.9143	0.35572	0.0:0.6274:0.0:0.3726	.	90;249	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	I	90;249	ENSP00000440676:L90I;ENSP00000283141:L249I	ENSP00000283141:L249I	L	+	1	0	SYCP2L	11015829	0.830000	0.29337	0.001000	0.08648	0.108000	0.19459	1.383000	0.34385	-0.013000	0.14199	0.655000	0.94253	CTT		0.373	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		A	10907843	C	A	10907843	3	1	430	1	0	0	0	0	1	0	0	0	15433	565	20	3	783	3	SYCP2L	6	10907843	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09		10907843	160207224	23	23673											
KIFC1	3833	genome.wustl.edu	37	6	33374608	33374608	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr6:33374608G>A	ENST00000428849.2	+	10	2383	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	645	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TCCACTGGAAGAGAACGTCTC	0.547																																																0			6											117	106	110					6																	33374608		2203	4300	6503	33482586	SO:0001583	missense	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1933G>A	6.37:g.33374608G>A	ENSP00000393963:p.Glu645Lys		33482586	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652169	0.96724	.	.	ENSG00000237649	ENST00000428849	T	0.74632	-0.86	5.09	5.09	0.68999	Kinesin, motor domain (3);	0.056836	0.64402	D	0.000002	T	0.70945	0.3282	N	0.17312	0.475	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.74674	0.947;0.984	T	0.75488	-0.3300	10	0.52906	T	0.07	-2.4534	16.0508	0.80760	0.0:0.0:1.0:0.0	.	637;645	B4E063;Q9BW19	.;KIFC1_HUMAN	K	645	ENSP00000393963:E645K	ENSP00000393963:E645K	E	+	1	0	KIFC1	33482586	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.590000	0.74085	2.656000	0.90262	0.563000	0.77884	GAG		0.547	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		A	33374608	G	A	33374608	3	1	430	1	0	0	0	0	1	0	0	0	8312	943	33	2	1971	2	KIFC1	6	33374608	Missense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09	22466765	33374608	137740459	24	23674											
SEMA3C	10512	genome.wustl.edu	37	7	80374553	80374553	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr7:80374553T>A	ENST00000265361.3	-	18	2474	c.1913A>T	c.(1912-1914)cAa>cTa	p.Q638L	SEMA3C_ENST00000544525.1_Missense_Mutation_p.Q656L|SEMA3C_ENST00000419255.2_Missense_Mutation_p.Q638L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	638	Ig-like C2-type.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATAAAGTCCTTGGTCAGAACC	0.403																																																0			7											72	71	72					7																	80374553		2203	4300	6503	80212489	SO:0001583	missense	10512			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1913A>T	7.37:g.80374553T>A	ENSP00000265361:p.Gln638Leu		80212489	B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033134	0.54896	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.67345	-0.26;-0.26;-0.26	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.099589	0.64402	D	0.000001	T	0.58566	0.2131	L	0.46157	1.445	0.80722	D	1	B;B	0.26147	0.143;0.076	B;B	0.29440	0.062;0.102	T	0.58429	-0.7638	10	0.45353	T	0.12	.	8.3648	0.32380	0.0:0.1168:0.0:0.8832	.	656;638	F5H1Z7;Q99985	.;SEM3C_HUMAN	L	638;638;656	ENSP00000265361:Q638L;ENSP00000411193:Q638L;ENSP00000445649:Q656L	ENSP00000265361:Q638L	Q	-	2	0	SEMA3C	80212489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.096000	0.50243	2.130000	0.65690	0.528000	0.53228	CAA		0.403	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		A	80374553	T	A	80374553	3	1	430	1	0	0	0	0	1	0	0	0	14029	1812	63	5	346	5	SEMA3C	7	80374553	Missense_Mutation	SNP	T	TCGA-61-1899-01A-01W-0639-09		80374553	78764110	25	23675											
GPR37	2861	genome.wustl.edu	37	7	124386666	124386666	+	Silent	SNP	G	G	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr7:124386666G>A	ENST00000303921.2	-	2	2405	c.1755C>T	c.(1753-1755)aaC>aaT	p.N585N		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	585					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGTACTCGTTGTCATTGT	0.498																																																0			7											180	150	160					7																	124386666		2203	4300	6503	124173902	SO:0001819	synonymous_variant	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1755C>T	7.37:g.124386666G>A			124173902	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	CCDS5792.1																																																																																				0.498	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		A	124386666	G	A	124386666	2	1	430	1	0	0	0	0	0	0	0	1	6691	1136	40	1		1	GPR37	7	124386666	Silent	SNP	G	TCGA-61-1899-01A-01W-0639-09	44012113	124386666	34751997	26	23676											
CNTNAP2	26047	genome.wustl.edu	37	7	146829390	146829390	+	Silent	SNP	C	C	T	rs78543192	byFrequency	TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr7:146829390C>T	ENST00000361727.3	+	8	1653	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	379					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTTTTTCAACGCTACAAGTT	0.458										HNSCC(39;0.1)			T|||	30	0.00599042	0.0219	0.0014	5008	,	,		20040	0		0	False		,,,				2504	0															0			7						T		66,4340	820.5+/-416.4	0,66,2137	126	121	122		1137	3.3	1	7	dbSNP_132	122	0,8600		0,0,4300	no	coding-synonymous	CNTNAP2	NM_014141.5		0,66,6437	TT,TC,CC		0.0,1.498,0.5075		379/1332	146829390	66,12940	2203	4300	6503	146460323	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1137C>T	7.37:g.146829390C>T			146460323	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	146829390	C	T	146829390	2	4	430	1	0	0	0	0	0	0	0	1	3647	535	19	1		1	CNTNAP2	7	146829390	Silent	SNP	C	TCGA-61-1899-01A-01W-0639-09	22442724	146829390	12309273	27	23677											
PTPRN2	5799	genome.wustl.edu	37	7	157926524	157926524	+	Silent	SNP	G	G	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr7:157926524G>A	ENST00000389418.4	-	9	1410	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	PTPRN2_ENST00000389413.3_Silent_p.A467A|PTPRN2_ENST00000404321.2_Silent_p.A490A|PTPRN2_ENST00000389416.4_Silent_p.A450A|PTPRN2_ENST00000409483.1_Silent_p.A429A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	467					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A467A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAAACGCAGCGGCCCCGGGCT	0.632																																																1	Substitution - coding silent(1)	cervix(1)	7											44	50	48					7																	157926524		2203	4300	6503	157619285	SO:0001819	synonymous_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1401C>T	7.37:g.157926524G>A			157619285	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	CCDS5947.1																																																																																				0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			A	157926524	G	A	157926524	2	1	430	1	0	0	0	0	0	0	0	1	12811	1103	39	1		1	PTPRN2	7	157926524	Silent	SNP	G	TCGA-61-1899-01A-01W-0639-09	11097134	157926524	1212139	28	23678											
RIPK2	8767	genome.wustl.edu	37	8	90798863	90798863	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr8:90798863C>G	ENST00000220751.4	+	9	1386	c.1072C>G	c.(1072-1074)Cct>Gct	p.P358A	RIPK2_ENST00000540020.1_Missense_Mutation_p.P221A	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	358					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TAGTGGTTCTCCTGAAACTTC	0.323																																																0			8											112	114	113					8																	90798863		2203	4300	6503	90868004	SO:0001583	missense	8767			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1072C>G	8.37:g.90798863C>G	ENSP00000220751:p.Pro358Ala		90868004	B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	C	3.944	-0.013542	0.07727	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.81078	-1.2;-1.45	5.51	0.379	0.16213	.	0.792782	0.10650	N	0.649984	T	0.60856	0.2301	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38585	-0.9654	10	0.14252	T	0.57	-0.0866	0.9218	0.01316	0.1698:0.407:0.149:0.2742	.	358	O43353	RIPK2_HUMAN	A	358;221	ENSP00000220751:P358A;ENSP00000441623:P221A	ENSP00000220751:P358A	P	+	1	0	RIPK2	90868004	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.363000	0.07593	-0.111000	0.12001	0.557000	0.71058	CCT		0.323	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			G	90798863	C	G	90798863	3	3	430	1	0	0	0	0	1	0	0	0	13384	855	30	3	1106	3	RIPK2	8	90798863	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09		90798863	55565159	29	23679											
CSMD3	114788	genome.wustl.edu	37	8	113276040	113276040	+	Splice_Site	SNP	A	A	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr8:113276040A>T	ENST00000297405.5	-	61	9934	c.9690T>A	c.(9688-9690)gcT>gcA	p.A3230A	CSMD3_ENST00000343508.3_Splice_Site_p.A3190A|CSMD3_ENST00000455883.2_Splice_Site_p.A3061A|CSMD3_ENST00000352409.3_Splice_Site_p.A3160A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3230	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCAGGTAACAGCTGCAATTA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											61	57	58					8																	113276040		2203	4300	6503	113345216	SO:0001630	splice_region_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9689-1T>A	8.37:g.113276040A>T			113345216	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Silent	T	113276040	A	T	113276040	5	4	430	1	0	0	0	0	0	0	1	0	3946	202	7	5	1477	5	CSMD3	8	113276040	Splice_Site	SNP	A	TCGA-61-1899-01A-01W-0639-09	22477177	113276040	33087982	30	23680											
FREM1	158326	genome.wustl.edu	37	9	14769771	14769771	+	Missense_Mutation	SNP	C	C	T	rs201617511		TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr9:14769771C>T	ENST00000380880.3	-	27	5938	c.5155G>A	c.(5155-5157)Gtg>Atg	p.V1719M	FREM1_ENST00000380881.4_Missense_Mutation_p.V1720M|FREM1_ENST00000380894.1_Missense_Mutation_p.V255M|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Missense_Mutation_p.V1719M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1719					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAAATTCCACGGTATCTGAA	0.353																																																0			9						C	MET/VAL,MET/VAL	1,3621		0,1,1810	95	93	93		763,5155	-11.7	0	9		93	2,8158		0,2,4078	yes	missense,missense	FREM1	NM_001177704.1,NM_144966.5	21,21	0,3,5888	TT,TC,CC		0.0245,0.0276,0.0255	benign,benign	255/716,1719/2180	14769771	3,11779	1811	4080	5891	14759771	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5155G>A	9.37:g.14769771C>T	ENSP00000370262:p.Val1719Met		14759771	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	8.637	0.895140	0.17613	2.76E-4	2.45E-4	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.45668	1.57;1.57;0.89;1.57	5.86	-11.7	0.00046	.	0.796389	0.12250	N	0.485735	T	0.07324	0.0185	N	0.00538	-1.39	0.09310	N	1	B;B	0.18610	0.002;0.029	B;B	0.10450	0.001;0.005	T	0.21415	-1.0246	10	0.32370	T	0.25	-0.1493	2.3519	0.04286	0.1784:0.3853:0.1996:0.2367	.	1719;255	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	M	1720;1719;255;1719;132	ENSP00000370263:V1720M;ENSP00000412940:V1719M;ENSP00000370278:V255M;ENSP00000370262:V1719M	ENSP00000370262:V1719M	V	-	1	0	FREM1	14759771	0.000000	0.05858	0.000000	0.03702	0.708000	0.40852	-0.759000	0.04761	-2.145000	0.00801	-1.159000	0.01794	GTG		0.353	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		T	14769771	C	T	14769771	3	4	430	1	0	0	0	0	1	0	0	0	6044	536	19	1	1428	1	FREM1	9	14769771	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09		14769771	126443660	31	23681											
ABCA1	19	genome.wustl.edu	37	9	107555134	107555134	+	Missense_Mutation	SNP	C	C	T	rs564049659		TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr9:107555134C>T	ENST00000374736.3	-	42	6084	c.5690G>A	c.(5689-5691)cGg>cAg	p.R1897Q		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1897			R -> W (in HDLD2; uncertain pathological significance). {ECO:0000269|PubMed:15722566}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.R1897L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTGTCTTTCCCGCCTCACATC	0.403													C|||	1	0.000199681	8e-04	0	5008	,	,		18562	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	lung(1)	9											131	115	120					9																	107555134		2203	4300	6503	106594955	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5690G>A	9.37:g.107555134C>T	ENSP00000363868:p.Arg1897Gln		106594955	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167555	0.57476	.	.	ENSG00000165029	ENST00000374736	T	0.76060	-0.99	5.76	5.76	0.90799	.	0.100949	0.64402	D	0.000005	T	0.60418	0.2267	N	0.12182	0.205	0.80722	D	1	B	0.23316	0.083	B	0.12156	0.007	T	0.54529	-0.8280	10	0.30854	T	0.27	.	19.568	0.95403	0.0:1.0:0.0:0.0	.	1897	O95477	ABCA1_HUMAN	Q	1897	ENSP00000363868:R1897Q	ENSP00000363868:R1897Q	R	-	2	0	ABCA1	106594955	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.614000	0.67695	2.736000	0.93811	0.655000	0.94253	CGG		0.403	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107555134	C	T	107555134	3	4	430	1	0	0	0	0	1	0	0	0	28	652	23	1	1131	1	ABCA1	9	107555134	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09	92785363	107555134	33658297	32	23682											
C10orf18	54906	genome.wustl.edu	37	10	5791735	5791735	+	Silent	SNP	A	A	G			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr10:5791735A>G	ENST00000328090.5	+	15	6976	c.6351A>G	c.(6349-6351)gaA>gaG	p.E2117E		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2117																	AGTATGCTGAATTCAACAAGG	0.373																																																0			10											81	77	78					10																	5791735		1903	4124	6027	5831741	SO:0001819	synonymous_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6351A>G	10.37:g.5791735A>G			5831741	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	CCDS41485.1																																																																																				0.373	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		G	5791735	A	G	5791735	2	3	430	1	0	0	0	0	0	0	0	1	1596	98	4	4		4	C10orf18	10	5791735	Silent	SNP	A	TCGA-61-1899-01A-01W-0639-09		5791735	129743012	33	23683											
NLRP6	171389	genome.wustl.edu	37	11	281191	281191	+	Missense_Mutation	SNP	C	C	A	rs558157091		TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr11:281191C>A	ENST00000312165.5	+	4	1457	c.1457C>A	c.(1456-1458)cCg>cAg	p.P486Q	NLRP6_ENST00000534750.1_Missense_Mutation_p.P486Q	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	486	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AAGGAGCTGCCGGGCGTGCTG	0.617																																																0			11											77	78	77					11																	281191		2203	4300	6503	271191	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1457C>A	11.37:g.281191C>A	ENSP00000309767:p.Pro486Gln		271191	A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.767130	0.00082	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.74315	-0.83;-0.78	3.26	2.35	0.29111	NACHT nucleoside triphosphatase (1);	0.433212	0.17213	N	0.182628	T	0.39009	0.1062	N	0.04320	-0.23	0.09310	N	1	B;P	0.39376	0.174;0.67	B;B	0.32022	0.052;0.139	T	0.48592	-0.9022	10	0.02654	T	1	.	5.3801	0.16186	0.0:0.7381:0.0:0.2619	.	486;486	E9PJZ8;P59044	.;NALP6_HUMAN	Q	486	ENSP00000433617:P486Q;ENSP00000309767:P486Q	ENSP00000309767:P486Q	P	+	2	0	NLRP6	271191	0.000000	0.05858	0.001000	0.08648	0.238000	0.25445	-0.121000	0.10643	0.940000	0.37473	0.455000	0.32223	CCG		0.617	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		A	281191	C	A	281191	3	1	430	1	0	0	0	0	1	0	0	0	10481	652	23	3	1471	3	NLRP6	11	281191	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09		281191	134725325	34	23684											
OR5M3	219482	genome.wustl.edu	37	11	56237094	56237094	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr11:56237094C>T	ENST00000312240.2	-	1	920	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTTTTCACATCCTTGTTCCTC	0.383																																																0			11											16	18	17					11																	56237094		2167	4216	6383	55993670	SO:0001583	missense	219482			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.880G>A	11.37:g.56237094C>T	ENSP00000312208:p.Asp294Asn		55993670	B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747853	0.30955	.	.	ENSG00000174937	ENST00000312240	T	0.38077	1.16	5.08	4.14	0.48551	.	0.172475	0.27455	N	0.019281	T	0.49389	0.1554	M	0.90082	3.085	0.33922	D	0.640965	B	0.21606	0.058	B	0.27076	0.076	T	0.63075	-0.6718	10	0.56958	D	0.05	-7.867	14.0408	0.64674	0.0:0.8474:0.1526:0.0	.	294	Q8NGP4	OR5M3_HUMAN	N	294	ENSP00000312208:D294N	ENSP00000312208:D294N	D	-	1	0	OR5M3	55993670	1.000000	0.71417	0.907000	0.35723	0.067000	0.16453	4.631000	0.61304	1.075000	0.40932	0.549000	0.68633	GAT		0.383	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		T	56237094	C	T	56237094	3	4	430	1	0	0	0	0	1	0	0	0	11175	855	30	2	45	2	OR5M3	11	56237094	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09	55955903	56237094	78769422	35	23685											
MYF5	4617	genome.wustl.edu	37	12	81111238	81111238	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr12:81111238G>C	ENST00000228644.3	+	1	548	c.396G>C	c.(394-396)gaG>gaC	p.E132D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	132	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCTACATCGAGAGCCTGCAGG	0.587																																																0			12											98	99	98					12																	81111238		2203	4300	6503	79635369	SO:0001583	missense	4617				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.396G>C	12.37:g.81111238G>C	ENSP00000228644:p.Glu132Asp		79635369	Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370173	0.82573	.	.	ENSG00000111049	ENST00000228644	D	0.97906	-4.6	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98308	1.0522	10	0.59425	D	0.04	-5.2483	15.7203	0.77705	0.0668:0.0:0.9332:0.0	.	132	P13349	MYF5_HUMAN	D	132	ENSP00000228644:E132D	ENSP00000228644:E132D	E	+	3	2	MYF5	79635369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.556000	0.45862	2.882000	0.98803	0.655000	0.94253	GAG		0.587	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		C	81111238	G	C	81111238	3	2	430	1	0	0	0	0	1	0	0	0	10027	933	33	3	398	3	MYF5	12	81111238	Missense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09		81111238	52740657	36	23686											
KPNA3	3839	genome.wustl.edu	37	13	50296164	50296164	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr13:50296164C>T	ENST00000261667.3	-	9	1067	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	218	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TGTGACGTTCCGAAGGAAGGT	0.478																																																0			13											127	116	120					13																	50296164		2203	4300	6503	49194165	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.653G>A	13.37:g.50296164C>T	ENSP00000261667:p.Arg218Gln		49194165	O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751261	0.89753	.	.	ENSG00000102753	ENST00000261667	T	0.70986	-0.53	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.105662	0.64402	D	0.000004	T	0.76364	0.3977	M	0.89601	3.045	0.80722	D	1	D	0.57571	0.98	B	0.37508	0.252	D	0.84042	0.0365	10	0.87932	D	0	-11.1239	19.8994	0.96980	0.0:1.0:0.0:0.0	.	218	O00505	IMA3_HUMAN	Q	218	ENSP00000261667:R218Q	ENSP00000261667:R218Q	R	-	2	0	KPNA3	49194165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.703000	0.92315	0.650000	0.86243	CGG		0.478	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		T	50296164	C	T	50296164	3	4	430	1	0	0	0	0	1	0	0	0	8431	652	23	1	948	1	KPNA3	13	50296164	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09		50296164	64873714	37	23687											
OR4N2	390429	genome.wustl.edu	37	14	20296476	20296476	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr14:20296476G>A	ENST00000315947.1	+	1	869	c.869G>A	c.(868-870)cGc>cAc	p.R290H	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATACCCTTCGCAACCAGGAA	0.403																																																0			14											47	50	49					14																	20296476		2203	4296	6499	19366316	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.869G>A	14.37:g.20296476G>A	ENSP00000319601:p.Arg290His		19366316	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	7.943	0.743201	0.15642	.	.	ENSG00000176294	ENST00000315947	T	0.41065	1.01	4.57	2.73	0.32206	.	0.000000	0.39909	N	0.001237	T	0.49372	0.1553	M	0.93462	3.42	0.19945	N	0.999941	B	0.32302	0.363	B	0.27715	0.082	T	0.53844	-0.8381	10	0.87932	D	0	-6.4057	8.7854	0.34818	0.1889:0.0:0.8111:0.0	.	290	Q8NGD1	OR4N2_HUMAN	H	290	ENSP00000319601:R290H	ENSP00000319601:R290H	R	+	2	0	OR4N2	19366316	0.173000	0.23056	0.675000	0.29917	0.112000	0.19704	2.979000	0.49313	0.651000	0.30788	0.591000	0.81541	CGC		0.403	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20296476	G	A	20296476	3	1	430	1	0	0	0	0	1	0	0	0	11077	1087	38	1	871	1	OR4N2	14	20296476	Missense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09		20296476	87053064	38	23688											
C14orf37	145407	genome.wustl.edu	37	14	58606017	58606017	+	Silent	SNP	G	G	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr14:58606017G>A	ENST00000267485.7	-	2	254	c.60C>T	c.(58-60)agC>agT	p.S20S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	20						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGTGGCAACGCTGAAAAGCA	0.478																																																0			14											102	103	103					14																	58606017		2203	4300	6503	57675770	SO:0001819	synonymous_variant	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.60C>T	14.37:g.58606017G>A			57675770	A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	CCDS32089.1																																																																																				0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		A	58606017	G	A	58606017	2	1	430	1	0	0	0	0	0	0	0	1	1771	1078	38	1		1	C14orf37	14	58606017	Silent	SNP	G	TCGA-61-1899-01A-01W-0639-09	38309541	58606017	48743523	39	23689											
USP7	7874	genome.wustl.edu	37	16	9015078	9015078	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr16:9015078C>G	ENST00000344836.4	-	4	656	c.458G>C	c.(457-459)cGt>cCt	p.R153P	USP7_ENST00000381886.4_Missense_Mutation_p.R137P|USP7_ENST00000566224.1_5'Flank|USP7_ENST00000535863.1_Missense_Mutation_p.R54P	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	153	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATGACTAATACGACGACTGAA	0.368																																																0			16											93	84	87					16																	9015078		2197	4300	6497	8922579	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.458G>C	16.37:g.9015078C>G	ENSP00000343535:p.Arg153Pro		8922579	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100558	0.56183	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.48522	0.81;0.81;0.81	5.9	5.9	0.94986	TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	L	0.29908	0.895	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.19391	0.025;0.025	T	0.13495	-1.0507	10	0.40728	T	0.16	.	20.3398	0.98759	0.0:1.0:0.0:0.0	.	153;137	Q93009;B7Z815	UBP7_HUMAN;.	P	153;161;54;54;95	ENSP00000343535:R153P;ENSP00000443646:R54P;ENSP00000439272:R95P	ENSP00000343535:R153P	R	-	2	0	USP7	8922579	1.000000	0.71417	0.293000	0.24932	0.918000	0.54935	5.822000	0.69265	2.817000	0.96982	0.552000	0.68991	CGT		0.368	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			G	9015078	C	G	9015078	3	3	430	1	0	0	0	0	1	0	0	0	17088	536	19	3	2962	3	USP7	16	9015078	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09		9015078	81339675	40	23690											
ZNF423	23090	genome.wustl.edu	37	16	49764715	49764715	+	Silent	SNP	G	G	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr16:49764715G>A	ENST00000561648.1	-	3	297	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	ZNF423_ENST00000562871.1_Silent_p.L22L|ZNF423_ENST00000563137.2_Silent_p.L22L|ZNF423_ENST00000562520.1_Silent_p.L22L|ZNF423_ENST00000262383.2_Silent_p.L82L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	82					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGTCCGTCAGGTCTGCCAGA	0.522																																																0			16											234	190	205					16																	49764715		2198	4300	6498	48322216	SO:0001819	synonymous_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.244C>T	16.37:g.49764715G>A			48322216	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																				0.522	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		A	49764715	G	A	49764715	2	1	430	1	0	0	0	0	0	0	0	1	17898	991	35	2		2	ZNF423	16	49764715	Silent	SNP	G	TCGA-61-1899-01A-01W-0639-09	40749637	49764715	40590038	41	23691											
VAC14	55697	genome.wustl.edu	37	16	70816975	70816975	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr16:70816975C>T	ENST00000261776.5	-	7	1032	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	258					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TTGGCCATCTCAGCAAACTTC	0.512																																																0			16											137	141	139					16																	70816975		2198	4300	6498	69374476	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.772G>A	16.37:g.70816975C>T	ENSP00000261776:p.Glu258Lys		69374476	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.927070	0.52759	.	.	ENSG00000103043	ENST00000261776	T	0.65732	-0.17	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	L	0.28556	0.865	0.80722	D	1	B	0.22003	0.063	B	0.27715	0.082	T	0.47209	-0.9135	10	0.16420	T	0.52	-30.5395	19.1503	0.93485	0.0:1.0:0.0:0.0	.	258	Q08AM6	VAC14_HUMAN	K	258	ENSP00000261776:E258K	ENSP00000261776:E258K	E	-	1	0	VAC14	69374476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.469000	0.80959	2.528000	0.85240	0.561000	0.74099	GAG		0.512	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		T	70816975	C	T	70816975	3	4	430	1	0	0	0	0	1	0	0	0	17111	835	29	2	1628	2	VAC14	16	70816975	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09	21052260	70816975	19537778	42	23692											
ZNF778	197320	genome.wustl.edu	37	16	89293742	89293742	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr16:89293742T>C	ENST00000433976.2	+	6	1294	c.962T>C	c.(961-963)cTc>cCc	p.L321P	ZNF778_ENST00000306502.6_Missense_Mutation_p.L279P|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TTCACTGGACTCTCAGGTCTT	0.463																																																0			16											55	60	58					16																	89293742		2097	4243	6340	87821243	SO:0001583	missense	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.962T>C	16.37:g.89293742T>C	ENSP00000405289:p.Leu321Pro		87821243	Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	T	2.458	-0.324896	0.05350	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.15603	2.41;2.41	1.13	-1.36	0.09085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07863	0.0197	N	0.12443	0.215	0.09310	N	1	B;B	0.22800	0.075;0.045	B;B	0.22601	0.04;0.018	T	0.33497	-0.9866	9	0.44086	T	0.13	.	3.3839	0.07264	0.1798:0.0:0.5741:0.2461	.	279;321	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	P	321;279	ENSP00000405289:L321P;ENSP00000305203:L279P	ENSP00000305203:L279P	L	+	2	0	ZNF778	87821243	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.213000	0.02991	-0.380000	0.07894	-1.044000	0.02363	CTC		0.463	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		C	89293742	T	C	89293742	3	2	430	1	0	0	0	0	1	0	0	0	18151	1551	54	4	980	4	ZNF778	16	89293742	Missense_Mutation	SNP	T	TCGA-61-1899-01A-01W-0639-09	18476767	89293742	1061011	43	23693											
MYH13	8735	genome.wustl.edu	37	17	10219343	10219343	+	Splice_Site	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr17:10219343C>T	ENST00000418404.3	-	27	3902		c.e27-1		RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Splice_Site			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle						cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTATGTTACTCTTTAACAAAC	0.398																																																0			17											102	94	97					17																	10219343		1889	4125	6014	10160068	SO:0001630	splice_region_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3739-1G>A	17.37:g.10219343C>T			10160068	O95252|Q9P0U8	Splice_Site	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.304853	0.81247	.	.	ENSG00000006788	ENST00000252172	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2938	0.87164	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH13	10160068	0.558000	0.26554	1.000000	0.80357	0.949000	0.60115	0.741000	0.26202	2.134000	0.65973	0.563000	0.77884	.		0.398	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	Intron	T	10219343	C	T	10219343	5	4	430	1	0	0	0	0	0	0	1	0	10032	927	32	2	2134	2	MYH13	17	10219343	Splice_Site	SNP	C	TCGA-61-1899-01A-01W-0639-09		10219343	70975867	44	23694											
MYO5B	4645	genome.wustl.edu	37	18	47489318	47489318	+	Splice_Site	SNP	C	C	G			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr18:47489318C>G	ENST00000285039.7	-	11	1704		c.e11+1			NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB						endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACCAAGCCTACCGAGTTGAAC	0.517																																																0			18											164	167	166					18																	47489318		1881	4110	5991	45743316	SO:0001630	splice_region_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1404+1G>C	18.37:g.47489318C>G			45743316	B0I1R3|Q0P656|Q9H6Y6	Splice_Site	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599254	0.87055	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.693	0.96009	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO5B	45743316	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.711000	0.84669	2.746000	0.94184	0.655000	0.94253	.		0.517	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		Intron	G	47489318	C	G	47489318	5	3	430	1	0	0	0	0	0	0	1	0	10079	521	18	3	4261	3	MYO5B	18	47489318	Splice_Site	SNP	C	TCGA-61-1899-01A-01W-0639-09		47489318	30587930	45	23695											
DOCK6	57572	genome.wustl.edu	37	19	11353770	11353770	+	Missense_Mutation	SNP	G	G	A	rs557547319		TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr19:11353770G>A	ENST00000294618.7	-	13	1456	c.1445C>T	c.(1444-1446)cCg>cTg	p.P482L		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	482					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CAGGGACGACGGGCGCCTCAT	0.602											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	8e-04	0	5008	,	,		16899	0		0	False		,,,				2504	0															0			19											75	82	80					19																	11353770		2113	4231	6344	11214770	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1445C>T	19.37:g.11353770G>A	ENSP00000294618:p.Pro482Leu	671	11214770	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857875	0.91433	.	.	ENSG00000130158	ENST00000294618	T	0.76839	-1.05	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.88366	0.6417	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90587	0.4534	10	0.87932	D	0	-29.4102	15.5966	0.76587	0.0:0.0:1.0:0.0	.	482	Q96HP0	DOCK6_HUMAN	L	482	ENSP00000294618:P482L	ENSP00000294618:P482L	P	-	2	0	DOCK6	11214770	1.000000	0.71417	0.833000	0.33012	0.982000	0.71751	8.922000	0.92789	1.946000	0.56461	0.462000	0.41574	CCG		0.602	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11353770	G	A	11353770	3	1	430	1	0	0	0	0	1	0	0	0	4691	1116	39	1	4842	1	DOCK6	19	11353770	Missense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09		11353770	47775213	46	23696											
LILRB4	11006	genome.wustl.edu	37	19	55178156	55178156	+	Missense_Mutation	SNP	G	G	A	rs532643436	byFrequency	TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr19:55178156G>A	ENST00000391736.1	+	12	1312	c.997G>A	c.(997-999)Gtg>Atg	p.V333M	LILRB4_ENST00000391733.3_Missense_Mutation_p.V334M|LILRB4_ENST00000430952.2_Missense_Mutation_p.V333M|LILRB4_ENST00000391734.3_Missense_Mutation_p.V333M|LILRB4_ENST00000270452.2_Missense_Mutation_p.V333M	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	333					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGGTGCTGCCGTGAAGAACAC	0.612													G|||	2	0.000399361	0	0.0014	5008	,	,		17111	0		0	False		,,,				2504	0.001															0			19											120	109	113					19																	55178156		2203	4300	6503	59869968	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.997G>A	19.37:g.55178156G>A	ENSP00000375616:p.Val333Met		59869968	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	3.919	-0.018432	0.07681	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00561	6.8;6.8;6.63;6.95;6.82;6.59	1.73	-3.46	0.04767	.	.	.	.	.	T	0.00936	0.0031	M	0.83774	2.66	0.09310	N	1	P;P;P;P;P	0.50943	0.696;0.901;0.94;0.837;0.57	B;B;P;B;B	0.45474	0.069;0.382;0.482;0.386;0.215	T	0.05146	-1.0903	9	0.72032	D	0.01	.	8.7457	0.34585	0.3029:0.0:0.6971:0.0	.	333;332;334;333;333	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	M	333;333;333;333;334;332	ENSP00000375616:V333M;ENSP00000270452:V333M;ENSP00000408995:V333M;ENSP00000375614:V333M;ENSP00000375613:V334M;ENSP00000401962:V332M	ENSP00000270452:V333M	V	+	1	0	LILRB4	59869968	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-3.339000	0.00506	-1.505000	0.01807	-1.387000	0.01160	GTG		0.612	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			A	55178156	G	A	55178156	3	1	430	1	0	0	0	0	1	0	0	0	8793	1145	40	1	1035	1	LILRB4	19	55178156	Missense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09	43824386	55178156	3950827	47	23697											
ZNF341	84905	genome.wustl.edu	37	20	32332983	32332983	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr20:32332983C>T	ENST00000375200.1	+	3	582	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	ZNF341_ENST00000342427.2_Missense_Mutation_p.R73W	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GACCCACAAGCGGGAACAGTG	0.592																																																0			20											73	72	72					20																	32332983		2203	4300	6503	31796644	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.217C>T	20.37:g.32332983C>T	ENSP00000364346:p.Arg73Trp		31796644	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.023252	0.75275	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.38722	1.12;1.12	5.58	3.61	0.41365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.34521	1.04	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.973	T	0.50048	-0.8873	10	0.87932	D	0	-36.0878	8.8854	0.35400	0.3647:0.5646:0.0:0.0707	.	73;73	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	W	73	ENSP00000344308:R73W;ENSP00000364346:R73W	ENSP00000344308:R73W	R	+	1	2	ZNF341	31796644	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.882000	0.28186	1.351000	0.45789	0.563000	0.77884	CGG		0.592	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				T	32332983	C	T	32332983	3	4	430	1	0	0	0	0	1	0	0	0	17857	759	27	1	227	1	ZNF341	20	32332983	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09		32332983	30692537	48	23698											
RALY	22913	genome.wustl.edu	37	20	32660032	32660033	+	Frame_Shift_Ins	INS	-	-	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr20:32660032_32660033insT	ENST00000246194.3	+	3	654_655	c.152_153insT	c.(151-156)tgttctfs	p.S52fs	RALY_ENST00000375114.3_Frame_Shift_Ins_p.S52fs|RALY_ENST00000493399.1_Intron	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	52	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GTGGCCGGCTGTTCTGTGCACA	0.559																																																0			20																																								32123694	SO:0001589	frameshift_variant	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.154dupT	20.37:g.32660034_32660034dupT	ENSP00000246194:p.Ser52fs		32123693	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Frame_Shift_Ins	INS	ENST00000246194.3	37	CCDS13230.1																																																																																				0.559	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			T	32660033	-	T	32660032	7	5	430	1	0	1	1	0	0	0	0	0	13022	1377	48	0	154	0	RALY	20	32660032	Frame_Shift_Ins	INS	-	TCGA-61-1899-01A-01W-0639-09	327049	32660032	30365488	49	23699											
PHF20	51230	genome.wustl.edu	37	20	34458978	34458978	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr20:34458978C>T	ENST00000374012.3	+	8	1153	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	342					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GATCCTAGATCCTGACTTGGT	0.448																																																0			20											173	155	161					20																	34458978		2203	4300	6503	33922392	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1024C>T	20.37:g.34458978C>T	ENSP00000363124:p.Pro342Ser		33922392	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.245263	0.39697	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.42513	1.58;0.97;0.97	5.41	0.897	0.19258	.	0.857221	0.10671	N	0.647584	T	0.24005	0.0581	L	0.34521	1.04	0.80722	D	1	B;B	0.19583	0.0;0.037	B;B	0.14023	0.0;0.01	T	0.16689	-1.0394	10	0.12430	T	0.62	.	2.3472	0.04274	0.1153:0.4518:0.1835:0.2494	.	342;342	Q9BVI0;Q66K49	PHF20_HUMAN;.	S	342	ENSP00000363124:P342S;ENSP00000341900:P342S;ENSP00000363112:P342S	ENSP00000341900:P342S	P	+	1	0	PHF20	33922392	0.935000	0.31712	0.998000	0.56505	0.940000	0.58332	-0.103000	0.10940	0.279000	0.22186	-0.218000	0.12543	CCT		0.448	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		T	34458978	C	T	34458978	3	4	430	1	0	0	0	0	1	0	0	0	11831	855	30	2	1050	2	PHF20	20	34458978	Missense_Mutation	SNP	C	TCGA-61-1899-01A-01W-0639-09	1798946	34458978	28566542	50	23700											
NCAM2	4685	genome.wustl.edu	37	21	22656620	22656620	+	Silent	SNP	C	C	T			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr21:22656620C>T	ENST00000400546.1	+	3	486	c.237C>T	c.(235-237)acC>acT	p.T79T	NCAM2_ENST00000535285.1_Silent_p.T104T|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	79	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CACGGTTAACCATCTACAATG	0.388																																																0			21											119	112	114					21																	22656620		1884	4110	5994	21578491	SO:0001819	synonymous_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.237C>T	21.37:g.22656620C>T			21578491	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	CCDS42910.1																																																																																				0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		T	22656620	C	T	22656620	2	4	430	1	0	0	0	0	0	0	0	1	10203	581	21	2		2	NCAM2	21	22656620	Silent	SNP	C	TCGA-61-1899-01A-01W-0639-09		22656620	25473275	51	23701											
BRWD1	54014	genome.wustl.edu	37	21	40668205	40668205	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr21:40668205G>A	ENST00000333229.2	-	6	761	c.434C>T	c.(433-435)tCc>tTc	p.S145F	BRWD1_ENST00000380800.3_Missense_Mutation_p.S145F|BRWD1_ENST00000342449.3_Missense_Mutation_p.S145F|BRWD1_ENST00000470108.1_5'Flank	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	145					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTTGGTGGGGAACCATAATT	0.368																																					Melanoma(170;988 1986 4794 16843 39731)											0			21											135	139	138					21																	40668205		2203	4300	6503	39590075	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.434C>T	21.37:g.40668205G>A	ENSP00000330753:p.Ser145Phe		39590075	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	8.096	0.775584	0.16051	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.17370	2.28;2.28;2.28	5.9	3.98	0.46160	.	0.423728	0.24640	N	0.036814	T	0.10766	0.0263	L	0.28400	0.85	0.19300	N	0.99997	B;B	0.18013	0.002;0.025	B;B	0.10450	0.004;0.005	T	0.21759	-1.0236	10	0.25106	T	0.35	-0.0607	6.3696	0.21473	0.0689:0.1338:0.6582:0.1391	.	145;145	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	F	145	ENSP00000330753:S145F;ENSP00000344333:S145F;ENSP00000370178:S145F	ENSP00000330753:S145F	S	-	2	0	BRWD1	39590075	0.025000	0.19082	1.000000	0.80357	0.975000	0.68041	1.012000	0.29924	1.487000	0.48415	0.644000	0.83932	TCC		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		A	40668205	G	A	40668205	3	1	430	1	0	0	0	0	1	0	0	0	1525	1174	41	2	6915	2	BRWD1	21	40668205	Missense_Mutation	SNP	G	TCGA-61-1899-01A-01W-0639-09	18011585	40668205	7461690	52	23702											
C2CD2	25966	genome.wustl.edu	37	21	43319355	43319355	+	Silent	SNP	C	C	T	rs150987090	byFrequency	TCGA-61-1899-01A-01W-0639-09	TCGA-61-1899-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	df06fa82-6da5-499e-9cbb-d2e7a1811510	a2420405-8104-4c72-a446-0f5f7849d4a2	g.chr21:43319355C>T	ENST00000380486.3	-	13	1918	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	C2CD2_ENST00000329623.7_Silent_p.P404P	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	559						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTTCCTCTGGCGGGGCAGAGG	0.682													C|||	5	0.000998403	8e-04	0.0014	5008	,	,		9954	0		0.002	False		,,,				2504	0.001															0			21						C	,	0,4394		0,0,2197	21	25	23		1677,1212	-9.9	0	21	dbSNP_134	23	12,8562		0,12,4275	no	coding-synonymous,coding-synonymous	C2CD2	NM_015500.1,NM_199050.2	,	0,12,6472	TT,TC,CC		0.14,0.0,0.0925	,	559/697,404/542	43319355	12,12956	2197	4287	6484	42192424	SO:0001819	synonymous_variant	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1677G>A	21.37:g.43319355C>T			42192424	Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	CCDS42933.1	4	0.0018315018315018315	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	5.592	0.294091	0.10567	0.0	0.0014	ENSG00000157617	ENST00000449165	.	.	.	4.96	-9.92	0.00455	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10660	-1.0620	4	.	.	.	-14.3947	3.7676	0.08629	0.0995:0.1908:0.1944:0.5153	.	.	.	.	T	45	.	.	A	-	1	0	C2CD2	42192424	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.532000	0.00440	-2.705000	0.00396	-1.327000	0.01280	GCC		0.682	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		T	43319355	C	T	43319355	2	4	430	1	0	0	0	0	0	0	0	1	2152	755	27	1		1	C2CD2	21	43319355	Silent	SNP	C	TCGA-61-1899-01A-01W-0639-09	2651150	43319355	4810540	53	23703											
ACTRT2	140625	genome.wustl.edu	37	1	2938408	2938408	+	Missense_Mutation	SNP	A	A	T	rs4013154	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:2938408A>T	ENST00000378404.2	+	1	363	c.158A>T	c.(157-159)cAg>cTg	p.Q53L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	53						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCAACCAGAAGAAGTAC	0.612																																																0			1											42	37	39					1																	2938408		2202	4277	6479	2928268	SO:0001583	missense	140625			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.158A>T	1.37:g.2938408A>T	ENSP00000367658:p.Gln53Leu		2928268	B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	CCDS45.1	.	.	.	.	.	.	.	.	.	.	A	9.998	1.232676	0.22626	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.94537	-3.45	4.88	3.75	0.43078	.	0.292074	0.24907	N	0.034656	D	0.90604	0.7054	L	0.52573	1.65	0.47698	D	0.999496	B	0.23650	0.089	B	0.22152	0.038	D	0.85972	0.1477	10	0.87932	D	0	.	5.7063	0.17911	0.7648:0.0:0.0857:0.1495	.	53	Q8TDY3	ACTT2_HUMAN	L	53	ENSP00000367658:Q53L	ENSP00000367658:Q53L	Q	+	2	0	ACTRT2	2928268	1.000000	0.71417	0.927000	0.36925	0.223000	0.24884	3.969000	0.56816	0.705000	0.31890	-0.411000	0.06167	CAG		0.612	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		T	2938408	A	T	2938408	3	4	431	1	0	0	0	0	1	0	0	0	219	188	7	5	160	5	ACTRT2	1	2938408	Missense_Mutation	SNP	A	TCGA-61-1900-01A-01W-0639-09		2938408	246312213	1	23704											
MACF1	23499	genome.wustl.edu	37	1	39898770	39898796	+	In_Frame_Del	DEL	CAGTCACCGTAGTGAAATCTTTGGCAC	CAGTCACCGTAGTGAAATCTTTGGCAC	-	rs139726571|rs371189732|rs540201946		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CAGTCACCGTAGTGAAATCTTTGGCAC	CAGTCACCGTAGTGAAATCTTTGGCAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:39898770_39898796delCAGTCACCGTAGTGAAATCTTTGGCAC	ENST00000372915.3	+	66	17283_17309	c.17196_17222delCAGTCACCGTAGTGAAATCTTTGGCAC	c.(17194-17223)ttcagtcaccgtagtgaaatctttggcaca>tta	p.5732_5741FSHRSEIFGT>L	MACF1_ENST00000361689.2_In_Frame_Del_p.3774_3783FSHRSEIFGT>L|MACF1_ENST00000539005.1_In_Frame_Del_p.3644_3653FSHRSEIFGT>L|MACF1_ENST00000545844.1_In_Frame_Del_p.3774_3783FSHRSEIFGT>L|MACF1_ENST00000567887.1_In_Frame_Del_p.5873_5882FSHRSEIFGT>L|MACF1_ENST00000564288.1_In_Frame_Del_p.5836_5845FSHRSEIFGT>L|MACF1_ENST00000289893.4_In_Frame_Del_p.4276_4285FSHRSEIFGT>L|MACF1_ENST00000317713.7_In_Frame_Del_p.3774_3783FSHRSEIFGT>L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5732					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGAACTCTTCAGTCACCGTAGTGAAATCTTTGGCACATGTGGGGAG	0.348																																																0			1																																								39671383	SO:0001651	inframe_deletion	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17196_17222delCAGTCACCGTAGTGAAATCTTTGGCAC	1.37:g.39898770_39898796delCAGTCACCGTAGTGAAATCTTTGGCAC	ENSP00000362006:p.Phe5732_Thr5741delinsLeu		39671357	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	In_Frame_Del	DEL	ENST00000372915.3	37																																																																																					0.348	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		-	39898796	CAGTCACCGTAGTGAAATCTTTGGCAC	-	39898770	7	5	431	1	0	1	0	1	0	0	0	0	9144	825	29	0	17723	0	MACF1	1	39898770	In_Frame_Del	DEL	CAGTCACCGTAGTGAAATCTTTGGCAC	TCGA-61-1900-01A-01W-0639-09	36960362	39898770	209351851	2	23705											
CHI3L2	1117	genome.wustl.edu	37	1	111781385	111781385	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:111781385G>T	ENST00000445067.2	+	10	1520	c.749G>T	c.(748-750)gGg>gTg	p.G250V	CHI3L2_ENST00000369748.4_Missense_Mutation_p.G250V|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G171V|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G171V|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G240V			Q15782	CH3L2_HUMAN	chitinase 3-like 2	250					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TATGCTGTGGGGTACTGGATA	0.512																																																0			1											113	106	108					1																	111781385		2203	4300	6503	111582908	SO:0001583	missense	1117			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.749G>T	1.37:g.111781385G>T	ENSP00000437082:p.Gly250Val		111582908	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108540	0.37242	.	.	ENSG00000064886	ENST00000445067;ENST00000369744;ENST00000369748;ENST00000466741;ENST00000524472	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	3.35	1.21	0.21127	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.603732	0.13786	N	0.362871	T	0.06325	0.0163	L	0.39692	1.235	0.36680	D	0.878981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.985;0.985	T	0.39623	-0.9605	10	0.62326	D	0.03	-3.1958	4.3836	0.11305	0.4553:0.0:0.5447:0.0	.	171;240;250	B4DPR7;A6NNY3;Q15782	.;.;CH3L2_HUMAN	V	250;240;250;171;171	ENSP00000437082:G250V;ENSP00000358759:G240V;ENSP00000358763:G250V;ENSP00000437086:G171V;ENSP00000432049:G171V	ENSP00000358759:G240V	G	+	2	0	CHI3L2	111582908	0.002000	0.14202	0.937000	0.37676	0.608000	0.37181	0.076000	0.14712	0.577000	0.29470	-0.253000	0.11424	GGG		0.512	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000		T	111781385	G	T	111781385	3	4	431	1	0	0	0	0	1	0	0	0	3341	1232	43	3	779	3	CHI3L2	1	111781385	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	71882615	111781385	137469236	3	23706											
CGN	57530	genome.wustl.edu	37	1	151508126	151508126	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:151508126C>A	ENST00000271636.7	+	17	3178	c.3045C>A	c.(3043-3045)gaC>gaA	p.D1015E		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1009					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGGCAGGACCTGGAGTGTG	0.567																																																0			1											78	72	74					1																	151508126		2203	4300	6503	149774750	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3045C>A	1.37:g.151508126C>A	ENSP00000271636:p.Asp1015Glu		149774750	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075902	0.76415	.	.	ENSG00000143375	ENST00000271636	T	0.76839	-1.05	5.3	2.46	0.29980	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.68317	2.08	0.52501	D	0.999959	D	0.89917	1.0	D	0.91635	0.999	T	0.78942	-0.2005	10	0.62326	D	0.03	-30.4412	7.8194	0.29280	0.0:0.6832:0.0:0.3168	.	1009	Q9P2M7	CING_HUMAN	E	1015	ENSP00000271636:D1015E	ENSP00000271636:D1015E	D	+	3	2	CGN	149774750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.439000	0.35013	0.395000	0.25257	0.563000	0.77884	GAC		0.567	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		A	151508126	C	A	151508126	3	1	431	1	0	0	0	0	1	0	0	0	3303	506	18	3	3107	3	CGN	1	151508126	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	39726741	151508126	97742495	4	23707											
ADAMTS4	9507	genome.wustl.edu	37	1	161161302	161161302	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:161161302C>A	ENST00000367996.5	-	9	2568	c.2140G>T	c.(2140-2142)Gtc>Ttc	p.V714F	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	714	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TGCTGCCGGACAAGAATGTGG	0.582																																																0			1											62	66	64					1																	161161302		2203	4300	6503	159427926	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2140G>T	1.37:g.161161302C>A	ENSP00000356975:p.Val714Phe		159427926	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096181	0.56075	.	.	ENSG00000158859	ENST00000367996	T	0.60424	0.19	4.39	2.39	0.29439	ADAM-TS Spacer 1 (1);	0.331275	0.25238	N	0.032103	T	0.48466	0.1501	M	0.75447	2.3	0.80722	D	1	P	0.48016	0.904	P	0.48952	0.596	T	0.52808	-0.8526	10	0.87932	D	0	.	6.19	0.20518	0.0:0.5717:0.0:0.4283	.	714	O75173	ATS4_HUMAN	F	714	ENSP00000356975:V714F	ENSP00000356975:V714F	V	-	1	0	ADAMTS4	159427926	0.021000	0.18746	0.933000	0.37362	0.826000	0.46750	0.280000	0.18790	0.518000	0.28383	-0.367000	0.07326	GTC		0.582	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		A	161161302	C	A	161161302	3	1	431	1	0	0	0	0	1	0	0	0	268	478	17	3	377	3	ADAMTS4	1	161161302	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	9653176	161161302	88089319	5	23708											
USH2A	7399	genome.wustl.edu	37	1	216373352	216373352	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:216373352G>T	ENST00000307340.3	-	17	3814	c.3428C>A	c.(3427-3429)aCa>aAa	p.T1143K	USH2A_ENST00000366942.3_Missense_Mutation_p.T1143K|USH2A_ENST00000366943.2_Missense_Mutation_p.T1143K|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1143	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCTGGTTTTGTCTTGTAAGT	0.408										HNSCC(13;0.011)																																						0			1											98	96	97					1																	216373352		2203	4300	6503	214439975	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3428C>A	1.37:g.216373352G>T	ENSP00000305941:p.Thr1143Lys		214439975	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403345	0.83230	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.88586	-2.4;-0.14;-0.14	6.02	5.11	0.69529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000311	D	0.94548	0.8244	M	0.84219	2.685	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.95006	0.8147	10	0.62326	D	0.03	.	15.0299	0.71698	0.0677:0.0:0.9323:0.0	.	1143;1143	O75445-2;O75445	.;USH2A_HUMAN	K	1143	ENSP00000305941:T1143K;ENSP00000355910:T1143K;ENSP00000355909:T1143K	ENSP00000305941:T1143K	T	-	2	0	USH2A	214439975	1.000000	0.71417	0.455000	0.27031	0.931000	0.56810	6.318000	0.72866	1.554000	0.49487	0.655000	0.94253	ACA		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216373352	G	T	216373352	3	4	431	1	0	0	0	0	1	0	0	0	17036	1377	48	3	12418	3	USH2A	1	216373352	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	55212050	216373352	32877269	6	23709											
TFB2M	64216	genome.wustl.edu	37	1	246704467	246704467	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:246704467G>C	ENST00000366514.4	-	8	1242	c.1057C>G	c.(1057-1059)Caa>Gaa	p.Q353E		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	353					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTTCCTATTTGCATCAATATA	0.353																																																0			1											104	89	94					1																	246704467		2203	4300	6503	244771090	SO:0001583	missense	64216			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1057C>G	1.37:g.246704467G>C	ENSP00000355471:p.Gln353Glu		244771090	Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100112	0.20552	.	.	ENSG00000162851	ENST00000366514	T	0.27104	1.69	5.1	0.771	0.18504	.	0.699906	0.13996	N	0.348498	T	0.21801	0.0525	L	0.48362	1.52	0.09310	N	0.999999	B	0.27932	0.194	B	0.27170	0.077	T	0.22034	-1.0228	10	0.16896	T	0.51	-3.9562	13.6172	0.62115	0.0:0.0:0.3381:0.6619	.	353	Q9H5Q4	TFB2M_HUMAN	E	353	ENSP00000355471:Q353E	ENSP00000355471:Q353E	Q	-	1	0	TFB2M	244771090	0.000000	0.05858	0.002000	0.10522	0.160000	0.22226	-1.489000	0.02306	-0.039000	0.13602	0.557000	0.71058	CAA		0.353	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		C	246704467	G	C	246704467	3	2	431	1	0	0	0	0	1	0	0	0	15794	1328	46	3	137	3	TFB2M	1	246704467	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	30331115	246704467	2546154	7	23710											
ZNF669	79862	genome.wustl.edu	37	1	247264389	247264389	+	Missense_Mutation	SNP	C	C	T	rs563768242		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:247264389C>T	ENST00000343381.6	-	4	854	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	ZNF669_ENST00000366500.1_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.G142R|ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000366501.1_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AAGAATTTCCCACACTGTTCA	0.378													C|||	1	0.000199681	0	0	5008	,	,		21351	0		0	False		,,,				2504	0.001															0			1											135	128	130					1																	247264389		2203	4300	6503	245331012	SO:0001583	missense	79862				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"Zinc fingers, C2H2-type", "-"	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.682G>A	1.37:g.247264389C>T	ENSP00000342818:p.Gly228Arg		245331012	B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	ENST00000343381.6	37	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966592	0.34659	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	T;T	0.22743	1.94;1.94	0.719	-0.666	0.11399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41096	0.1144	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.28459	-1.0043	9	0.87932	D	0	.	6.1951	0.20546	0.0:0.6819:0.3181:0.0	.	142;228	B3KP94;Q96BR6	.;ZN669_HUMAN	R	142;142;228	ENSP00000404370:G142R;ENSP00000342818:G228R	ENSP00000342818:G228R	G	-	1	0	ZNF669	245331012	0.065000	0.20965	0.001000	0.08648	0.001000	0.01503	0.324000	0.19610	-0.236000	0.09753	-0.533000	0.04299	GGG		0.378	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		T	247264389	C	T	247264389	3	4	431	1	0	0	0	0	1	0	0	0	18076	594	21	2	716	2	ZNF669	1	247264389	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	559922	247264389	1986232	8	23711											
OR2T3	343173	genome.wustl.edu	37	1	248636745	248636745	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:248636745C>A	ENST00000359594.2	+	1	119	c.94C>A	c.(94-96)Ctc>Atc	p.L32I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGCCCTCCTCTACACCGT	0.547																																																0			1											35	22	27					1																	248636745		2190	4208	6398	246703368	SO:0001583	missense	343173				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.94C>A	1.37:g.248636745C>A	ENSP00000352604:p.Leu32Ile		246703368	B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	11.51	1.659631	0.29515	.	.	ENSG00000196539	ENST00000359594	T	0.16457	2.34	2.89	-5.78	0.02362	.	.	.	.	.	T	0.16727	0.0402	L	0.56396	1.775	0.09310	N	1	P	0.41041	0.736	B	0.40741	0.339	T	0.04191	-1.0970	9	0.62326	D	0.03	.	9.5064	0.39048	0.0:0.3722:0.5348:0.0931	.	32	Q8NH03	OR2T3_HUMAN	I	32	ENSP00000352604:L32I	ENSP00000352604:L32I	L	+	1	0	OR2T3	246703368	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.243000	0.08915	-2.200000	0.00747	0.186000	0.17326	CTC		0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		A	248636745	C	A	248636745	3	1	431	1	0	0	0	0	1	0	0	0	11023	681	24	3	96	3	OR2T3	1	248636745	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	1372356	248636745	613876	9	23712											
OR14I1	401994	genome.wustl.edu	37	1	248845156	248845156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:248845156G>T	ENST00000342623.3	-	1	473	c.450C>A	c.(448-450)tgC>tgA	p.C150*		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CGTAGGAAAAGCAGCTTAGCC	0.537																																																0			1											93	81	85					1																	248845156		2203	4300	6503	246911779	SO:0001587	stop_gained	401994				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.450C>A	1.37:g.248845156G>T	ENSP00000339726:p.Cys150*		246911779		Nonsense_Mutation	SNP	ENST00000342623.3	37	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.629999	0.28978	.	.	ENSG00000189181	ENST00000342623	.	.	.	3.48	-6.96	0.01622	.	0.324282	0.22755	N	0.056029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	2.2994	0.04158	0.3053:0.2093:0.3797:0.1056	.	.	.	.	X	150	.	ENSP00000339726:C150X	C	-	3	2	OR14I1	246911779	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.439000	0.01016	-1.965000	0.01010	-1.318000	0.01297	TGC		0.537	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		T	248845156	G	T	248845156	4	4	431	1	0	0	0	0	0	1	0	0	10947	963	34	3	489	3	OR14I1	1	248845156	Nonsense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	208411	248845156	405465	10	23713											
LPIN1	23175	genome.wustl.edu	37	2	11905847	11905847	+	Silent	SNP	C	C	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:11905847C>G	ENST00000256720.2	+	2	273	c.180C>G	c.(178-180)tcC>tcG	p.S60S	MIR548S_ENST00000581352.1_RNA|LPIN1_ENST00000396099.1_Silent_p.S66S|LPIN1_ENST00000425416.2_Silent_p.S66S|LPIN1_ENST00000449576.2_Silent_p.S109S|LPIN1_ENST00000396098.1_Silent_p.S66S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	60	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCCTGCGCTCCCGAGAGAAAG	0.572																																																0			2											77	71	73					2																	11905847		2203	4300	6503	11823298	SO:0001819	synonymous_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.180C>G	2.37:g.11905847C>G			11823298	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																				0.572	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		G	11905847	C	G	11905847	2	3	431	1	0	0	0	0	0	0	0	1	8918	610	22	3		3	LPIN1	2	11905847	Silent	SNP	C	TCGA-61-1900-01A-01W-0639-09		11905847	231293526	11	23714											
PPP1CB	5500	genome.wustl.edu	37	2	29004706	29004706	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:29004706G>T	ENST00000395366.2	+	4	790	c.518G>T	c.(517-519)gGa>gTa	p.G173V	PPP1CB_ENST00000358506.2_Missense_Mutation_p.G173V|PPP1CB_ENST00000296122.6_Missense_Mutation_p.G173V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	173					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGTTGTCATGGAGGTAGACTA	0.343																																																0			2											103	101	101					2																	29004706		2203	4300	6503	28858210	SO:0001583	missense	5500				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9282	protein-coding gene	gene with protein product		600590	"protein phosphatase 1, catalytic subunit, beta isoform"			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.518G>T	2.37:g.29004706G>T	ENSP00000378769:p.Gly173Val		28858210	B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141289	0.94560	.	.	ENSG00000213639	ENST00000455580;ENST00000358506;ENST00000296122;ENST00000395366;ENST00000418910	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.77	5.77	0.91146	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.71584	0.3357	H	0.99993	5.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87095	0.2175	10	0.87932	D	0	-11.5698	20.3626	0.98863	0.0:0.0:1.0:0.0	.	145;173	B4E163;P62140	.;PP1B_HUMAN	V	145;173;173;173;48	ENSP00000390715:G145V;ENSP00000351298:G173V;ENSP00000296122:G173V;ENSP00000378769:G173V;ENSP00000388056:G48V	ENSP00000296122:G173V	G	+	2	0	PPP1CB	28858210	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.779000	0.99018	2.885000	0.99019	0.655000	0.94253	GGA		0.343	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			T	29004706	G	T	29004706	3	4	431	1	0	0	0	0	1	0	0	0	12353	1174	41	3	532	3	PPP1CB	2	29004706	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	17098859	29004706	214194667	12	23715											
FSHR	2492	genome.wustl.edu	37	2	49190294	49190319	+	Frame_Shift_Del	DEL	CTGTGAGGTAGATGTGGATATAGCAG	CTGTGAGGTAGATGTGGATATAGCAG	-	rs200144377|rs368367400		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CTGTGAGGTAGATGTGGATATAGCAG	CTGTGAGGTAGATGTGGATATAGCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:49190294_49190319delCTGTGAGGTAGATGTGGATATAGCAG	ENST00000406846.2	-	10	1760_1785	c.1641_1666delCTGCTATATCCACATCTACCTCACAG	c.(1639-1668)ggctgctatatccacatctacctcacagtgfs	p.CYIHIYLTV548fs	FSHR_ENST00000541117.1_Frame_Shift_Del_p.CYIHIYLTV284fs|FSHR_ENST00000346173.3_Frame_Shift_Del_p.CYIHIYLTV486fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.CYIHIYLTV522fs	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	548					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.H551Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GGGTTCCGCACTGTGAGGTAGATGTGGATATAGCAGCCACAGATGA	0.531									Gonadal Dysgenesis, 46 XX																																							1	Substitution - Missense(1)	lung(1)	2																																								49043823	SO:0001589	frameshift_variant	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1641_1666delCTGCTATATCCACATCTACCTCACAG	2.37:g.49190294_49190319delCTGTGAGGTAGATGTGGATATAGCAG	ENSP00000384708:p.Cys548fs		49043798	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Frame_Shift_Del	DEL	ENST00000406846.2	37	CCDS1843.1																																																																																				0.531	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			-	49190319	CTGTGAGGTAGATGTGGATATAGCAG	-	49190294	7	5	431	1	0	1	0	1	0	0	0	0	6073	565	20	0	425	0	FSHR	2	49190294	Frame_Shift_Del	DEL	CTGTGAGGTAGATGTGGATATAGCAG	TCGA-61-1900-01A-01W-0639-09	20185588	49190294	194009079	13	23716											
DYSF	8291	genome.wustl.edu	37	2	71908228	71908228	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:71908228T>G	ENST00000258104.3	+	53	6321	c.6044T>G	c.(6043-6045)cTt>cGt	p.L2015R	DYSF_ENST00000410020.3_Missense_Mutation_p.L2054R|DYSF_ENST00000409762.1_Missense_Mutation_p.L2032R|DYSF_ENST00000409582.3_Missense_Mutation_p.L2053R|DYSF_ENST00000429174.2_Missense_Mutation_p.L2036R|DYSF_ENST00000409366.1_Missense_Mutation_p.L2037R|DYSF_ENST00000394120.2_Missense_Mutation_p.L2016R|DYSF_ENST00000410041.1_Missense_Mutation_p.L2033R|DYSF_ENST00000413539.2_Missense_Mutation_p.L2046R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.L2023R|DYSF_ENST00000409651.1_Missense_Mutation_p.L2047R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2015					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AACCCTAAGCTTGAGGACCCA	0.602																																																0			2											57	52	54					2																	71908228		2203	4300	6503	71761736	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6044T>G	2.37:g.71908228T>G	ENSP00000258104:p.Leu2015Arg		71761736	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769822	0.69992	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.39;-3.38;-3.36;-3.34;-3.37;-3.38;-3.37;-3.33;-3.34;-3.35;-3.38	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.92026	3.265	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;0.999	D	0.98048	1.0386	10	0.87932	D	0	-24.2565	14.3007	0.66346	0.0:0.0:0.0:1.0	.	779;2047;2054;2037;2002;2033;2023;2032;2022;2046;2053;2036;2001;2016;2015	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	R	2046;2032;2053;2036;2015;2047;2016;2023;2037;2054;2033	ENSP00000407046:L2046R;ENSP00000387137:L2032R;ENSP00000386547:L2053R;ENSP00000398305:L2036R;ENSP00000258104:L2015R;ENSP00000386683:L2047R;ENSP00000377678:L2016R;ENSP00000386285:L2023R;ENSP00000386512:L2037R;ENSP00000386881:L2054R;ENSP00000386617:L2033R	ENSP00000258104:L2015R	L	+	2	0	DYSF	71761736	1.000000	0.71417	0.688000	0.30117	0.424000	0.31475	7.967000	0.87967	2.259000	0.74868	0.528000	0.53228	CTT		0.602	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		G	71908228	T	G	71908228	3	3	431	1	0	0	0	0	1	0	0	0	4859	1609	56	5	6513	5	DYSF	2	71908228	Missense_Mutation	SNP	T	TCGA-61-1900-01A-01W-0639-09	22717934	71908228	171291145	14	23717											
DPP10	57628	genome.wustl.edu	37	2	116497350	116497350	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:116497350T>C	ENST00000410059.1	+	9	1213	c.733T>C	c.(733-735)Tca>Cca	p.S245P	DPP10_ENST00000310323.8_Missense_Mutation_p.S238P|DPP10_ENST00000409163.1_Missense_Mutation_p.S195P|DPP10_ENST00000393147.2_Missense_Mutation_p.S249P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	245						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCACTGGTGGTCACCAGATGG	0.463																																																0			2											174	153	160					2																	116497350		2203	4299	6502	116213820	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.733T>C	2.37:g.116497350T>C	ENSP00000386565:p.Ser245Pro		116213820	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918855	0.92249	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.95	4.95	0.65309	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	H	0.96015	3.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.85229	0.1031	10	0.87932	D	0	-24.8419	14.2337	0.65911	0.0:0.0:0.0:1.0	.	238;249;241;245	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	P	245;195;241;249;238;195	ENSP00000386565:S245P;ENSP00000387038:S195P;ENSP00000376854:S241P;ENSP00000376855:S249P;ENSP00000309066:S238P	ENSP00000309066:S238P	S	+	1	0	DPP10	116213820	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.825000	0.86693	2.210000	0.71456	0.460000	0.39030	TCA		0.463	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		C	116497350	T	C	116497350	3	2	431	1	0	0	0	0	1	0	0	0	4727	1667	58	4	938	4	DPP10	2	116497350	Missense_Mutation	SNP	T	TCGA-61-1900-01A-01W-0639-09	44589122	116497350	126702023	15	23718											
TFCP2L1	29842	genome.wustl.edu	37	2	121992811	121992811	+	Silent	SNP	G	G	A	rs372397557		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:121992811G>A	ENST00000263707.5	-	11	1177	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	360					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTTTGATGGCGTTGAAGAGCC	0.552													G|||	1	0.000199681	0	0	5008	,	,		18218	0		0	False		,,,				2504	0.001															0			2						G		0,4406		0,0,2203	92	85	87		1080	-1.4	1	2		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFCP2L1	NM_014553.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		360/480	121992811	1,13005	2203	4300	6503	121709281	SO:0001819	synonymous_variant	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1080C>T	2.37:g.121992811G>A			121709281	Q4ZG43	Silent	SNP	ENST00000263707.5	37	CCDS2134.1																																																																																				0.552	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		A	121992811	G	A	121992811	2	1	431	1	0	0	0	0	0	0	0	1	15796	1136	40	1		1	TFCP2L1	2	121992811	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09	5495461	121992811	121206562	16	23719											
WDR33	55339	genome.wustl.edu	37	2	128525786	128525786	+	Nonsense_Mutation	SNP	T	T	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:128525786T>A	ENST00000322313.4	-	4	513	c.355A>T	c.(355-357)Aag>Tag	p.K119*	WDR33_ENST00000409658.3_Nonsense_Mutation_p.K119*|WDR33_ENST00000393006.1_Nonsense_Mutation_p.K119*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	119					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACAGGACACTTTACTTTATTT	0.338																																																0			2											68	64	65					2																	128525786		2190	4292	6482	128242256	SO:0001587	stop_gained	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.355A>T	2.37:g.128525786T>A	ENSP00000325377:p.Lys119*		128242256	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505200	0.85282	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006;ENST00000409658	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8401	16.2507	0.82485	0.0:0.0:0.0:1.0	.	.	.	.	X	119;41;119;119	.	ENSP00000325377:K119X	K	-	1	0	WDR33	128242256	1.000000	0.71417	0.873000	0.34254	0.978000	0.69477	8.040000	0.89188	2.237000	0.73441	0.528000	0.53228	AAG		0.338	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		A	128525786	T	A	128525786	4	1	431	1	0	0	0	0	0	1	0	0	17287	1850	64	5	4140	5	WDR33	2	128525786	Nonsense_Mutation	SNP	T	TCGA-61-1900-01A-01W-0639-09	6532975	128525786	114673587	17	23720											
TTN	7273	genome.wustl.edu	37	2	179408637	179408637	+	Nonsense_Mutation	SNP	G	G	C	rs376532382		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:179408637G>C	ENST00000591111.1	-	296	91535	c.91311C>G	c.(91309-91311)taC>taG	p.Y30437*	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y23138*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y23013*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y32078*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y23205*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y29510*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30437	Ig-like 137.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGCATCGTACCGATTAA	0.413																																																0			2											174	159	164					2																	179408637		1927	4140	6067	179116883	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91311C>G	2.37:g.179408637G>C	ENSP00000465570:p.Tyr30437*		179116883	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	76	131.073136	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.85	-7.11	0.01542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3661	0.90391	0.4042:0.0:0.5958:0.0	.	.	.	.	X	29510;23013;23205;23138;23010	.	ENSP00000340554:Y23205X	Y	-	3	2	TTN	179116883	0.027000	0.19231	0.871000	0.34182	0.996000	0.88848	-0.385000	0.07379	-1.350000	0.02199	-0.238000	0.12139	TAC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179408637	G	C	179408637	4	2	431	1	0	0	0	0	0	1	0	0	16735	1140	40	3	11813	3	TTN	2	179408637	Nonsense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	50882851	179408637	63790736	18	23721											
TTN	7273	genome.wustl.edu	37	2	179454536	179454536	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:179454536T>A	ENST00000591111.1	-	254	57217	c.56993A>T	c.(56992-56994)tAt>tTt	p.Y18998F	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y11699F|TTN_ENST00000460472.2_Missense_Mutation_p.Y11574F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y20639F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y11766F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y18071F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18998	Fibronectin type-III 37. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCGGAAATAGTATTCATT	0.418																																																0			2											197	186	190					2																	179454536		1871	4095	5966	179162782	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56993A>T	2.37:g.179454536T>A	ENSP00000465570:p.Tyr18998Phe		179162782	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.91	1.780119	0.31502	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.1	4.89	0.63831	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31420	0.0796	N	0.05230	-0.09	0.33222	D	0.554802	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.37753	-0.9692	9	0.87932	D	0	.	9.4228	0.38561	0.3044:0.0:0.0:0.6956	.	11574;11699;11766;18998	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	18071;11574;11766;11699;11572	ENSP00000343764:Y18071F;ENSP00000434586:Y11574F;ENSP00000340554:Y11766F;ENSP00000352154:Y11699F	ENSP00000340554:Y11766F	Y	-	2	0	TTN	179162782	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.765000	0.74965	2.340000	0.79590	0.528000	0.53228	TAT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179454536	T	A	179454536	3	1	431	1	0	0	0	0	1	0	0	0	16735	1406	49	5	46299	5	TTN	2	179454536	Missense_Mutation	SNP	T	TCGA-61-1900-01A-01W-0639-09	45899	179454536	63744837	19	23722											
ZNF804A	91752	genome.wustl.edu	37	2	185731240	185731240	+	Splice_Site	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:185731240G>C	ENST00000302277.6	+	2	849		c.e2+1			NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A								metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCACAAGCAGGTAAGAAAGAG	0.323																																																0			2											60	60	60					2																	185731240		2203	4299	6502	185439485	SO:0001630	splice_region_variant	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.255+1G>C	2.37:g.185731240G>C			185439485	A7E253|Q6ZN26	Splice_Site	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731820	0.89390	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.892	0.92408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF804A	185439485	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.750000	0.98875	2.767000	0.95098	0.591000	0.81541	.		0.323	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	Intron	C	185731240	G	C	185731240	5	2	431	1	0	0	0	0	0	0	1	0	18170	1275	44	3	262	3	ZNF804A	2	185731240	Splice_Site	SNP	G	TCGA-61-1900-01A-01W-0639-09	6276704	185731240	57468133	20	23723											
INPP5D	3635	genome.wustl.edu	37	2	234085947	234085947	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:234085947C>A	ENST00000359570.5	+	20	1990	c.1990C>A	c.(1990-1992)Ctc>Atc	p.L664I	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.L428I|INPP5D_ENST00000450745.1_Missense_Mutation_p.L428I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	676					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGACCGAGTCCTCTGGAAGTC	0.428																																					NSCLC(82;1215 1426 16163 20348 41018)											0			2											163	159	161					2																	234085947		1972	4167	6139	233750686	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1990C>A	2.37:g.234085947C>A	ENSP00000352575:p.Leu664Ile		233750686	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	C	22.1	4.249731	0.80024	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.11	5.11	0.69529	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.143561	0.48286	D	0.000190	D	0.92548	0.7633	.	.	.	0.44477	D	0.997415	P;D	0.53745	0.953;0.962	D;D	0.67231	0.917;0.95	D	0.93500	0.6843	9	0.87932	D	0	.	18.591	0.91212	0.0:1.0:0.0:0.0	.	675;676	Q92835-2;Q92835	.;SHIP1_HUMAN	I	664;428;428;297;297;297	ENSP00000352575:L664I;ENSP00000407916:L428I;ENSP00000404610:L428I;ENSP00000400151:L297I;ENSP00000397421:L297I;ENSP00000405338:L297I	ENSP00000352575:L664I	L	+	1	0	INPP5D	233750686	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.698000	0.68302	2.384000	0.81235	0.456000	0.33151	CTC		0.428	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		A	234085947	C	A	234085947	3	1	431	1	0	0	0	0	1	0	0	0	7756	681	24	3	1604	3	INPP5D	2	234085947	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	48354707	234085947	9113426	21	23724											
WDR48	57599	genome.wustl.edu	37	3	39129652	39129668	+	Frame_Shift_Del	DEL	GAAATGGATATTTTCAA	GAAATGGATATTTTCAA	-			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	GAAATGGATATTTTCAA	GAAATGGATATTTTCAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:39129652_39129668delGAAATGGATATTTTCAA	ENST00000302313.5	+	15	1536_1552	c.1508_1524delGAAATGGATATTTTCAA	c.(1507-1524)ggaaatggatattttcaafs	p.GNGYFQ503fs	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Frame_Shift_Del_p.GNGYFQ228fs|WDR48_ENST00000396258.3_Frame_Shift_Del_p.GNGYFQ421fs	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	503					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GTGCAGAAGGGAAATGGATATTTTCAAGTGCCCCCAC	0.442																																																0			3																																								39104672	SO:0001589	frameshift_variant	57599			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1508_1524delGAAATGGATATTTTCAA	3.37:g.39129652_39129668delGAAATGGATATTTTCAA	ENSP00000307491:p.Gly503fs		39104656	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Frame_Shift_Del	DEL	ENST00000302313.5	37	CCDS33738.1																																																																																				0.442	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		-	39129668	GAAATGGATATTTTCAA	-	39129652	7	5	431	1	0	1	0	1	0	0	0	0	17301	1174	41	0	1566	0	WDR48	3	39129652	Frame_Shift_Del	DEL	GAAATGGATATTTTCAA	TCGA-61-1900-01A-01W-0639-09		39129652	158892778	22	23725											
CSRNP1	64651	genome.wustl.edu	37	3	39184569	39184569	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:39184569G>C	ENST00000273153.5	-	5	1924	c.1747C>G	c.(1747-1749)Cta>Gta	p.L583V	CSRNP1_ENST00000514182.1_Missense_Mutation_p.L583V	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	583					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	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)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGCTCCATTAGAGATGCTGGG	0.562																																																0			3											61	65	63					3																	39184569		2203	4300	6503	39159573	SO:0001583	missense	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1747C>G	3.37:g.39184569G>C	ENSP00000273153:p.Leu583Val		39159573	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079697	0.55753	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.49139	0.79;0.79	4.26	1.41	0.22369	.	0.217617	0.29579	N	0.011749	T	0.26412	0.0645	L	0.34521	1.04	0.23401	N	0.99776	P	0.46142	0.873	B	0.40101	0.319	T	0.15350	-1.0440	10	0.09590	T	0.72	-13.3807	4.201	0.10466	0.2519:0.0:0.5818:0.1663	.	583	Q96S65	CSRN1_HUMAN	V	583;583;241	ENSP00000273153:L583V;ENSP00000422532:L583V	ENSP00000273153:L583V	L	-	1	2	CSRNP1	39159573	0.221000	0.23642	0.058000	0.19502	0.712000	0.41017	1.561000	0.36342	0.643000	0.30638	0.655000	0.94253	CTA		0.562	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		C	39184569	G	C	39184569	3	2	431	1	0	0	0	0	1	0	0	0	3963	933	33	3	26	3	CSRNP1	3	39184569	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	54917	39184569	158837861	23	23726											
DNAH1	25981	genome.wustl.edu	37	3	52378532	52378532	+	Missense_Mutation	SNP	C	C	T	rs377236847		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:52378532C>T	ENST00000420323.2	+	9	1574	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	438	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCAGTCTTGCCAGAGAAGTG	0.582																																																0			3											105	110	108					3																	52378532		2069	4203	6272	52353572	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1313C>T	3.37:g.52378532C>T	ENSP00000401514:p.Ala438Val		52353572	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349579	0.24426	.	.	ENSG00000114841	ENST00000420323	T	0.21543	2.0	5.04	3.07	0.35406	.	0.629005	0.14039	N	0.345562	T	0.10680	0.0261	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.001;0.007	T	0.32613	-0.9900	10	0.19147	T	0.46	.	8.0336	0.30480	0.2635:0.3727:0.3638:0.0	.	438;438	C9JXH6;Q9P2D7-3	.;.	V	438	ENSP00000401514:A438V	ENSP00000401514:A438V	A	+	2	0	DNAH1	52353572	0.651000	0.27340	0.106000	0.21319	0.996000	0.88848	0.669000	0.25142	1.075000	0.40932	0.655000	0.94253	GCC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52378532	C	T	52378532	3	4	431	1	0	0	0	0	1	0	0	0	4597	739	26	2	1343	2	DNAH1	3	52378532	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	13193963	52378532	145643898	24	23727											
CACNA2D3	55799	genome.wustl.edu	37	3	54798363	54798363	+	Silent	SNP	T	T	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:54798363T>A	ENST00000474759.1	+	13	1413	c.1365T>A	c.(1363-1365)gcT>gcA	p.A455A	CACNA2D3_ENST00000490478.1_Silent_p.A361A|CACNA2D3_ENST00000288197.5_Silent_p.A455A|CACNA2D3_ENST00000415676.2_Silent_p.A455A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	455	Cache.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GGACCGAAGCTTACATTGACA	0.507																																																0			3											99	96	97					3																	54798363		2045	4194	6239	54773403	SO:0001819	synonymous_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1365T>A	3.37:g.54798363T>A			54773403	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																				0.507	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			A	54798363	T	A	54798363	2	1	431	1	0	0	0	0	0	0	0	1	2550	1596	56	5		5	CACNA2D3	3	54798363	Silent	SNP	T	TCGA-61-1900-01A-01W-0639-09	2419831	54798363	143224067	25	23728											
LRIG1	26018	genome.wustl.edu	37	3	66434545	66434545	+	Silent	SNP	G	G	T	rs550022347		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:66434545G>T	ENST00000273261.3	-	14	2465	c.1941C>A	c.(1939-1941)cgC>cgA	p.R647R	LRIG1_ENST00000383703.3_Intron|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	647	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGACATGCATGCGTCGCTCAC	0.557																																																0			3											124	111	115					3																	66434545		2203	4300	6503	66517235	SO:0001819	synonymous_variant	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1941C>A	3.37:g.66434545G>T			66517235	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	CCDS33783.1																																																																																				0.557	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		T	66434545	G	T	66434545	2	4	431	1	0	0	0	0	0	0	0	1	8944	1306	46	3		3	LRIG1	3	66434545	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09	11636182	66434545	131587885	26	23729											
FRMD4B	23150	genome.wustl.edu	37	3	69242966	69242966	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:69242966G>C	ENST00000398540.3	-	17	1630	c.1547C>G	c.(1546-1548)gCt>gGt	p.A516G	FRMD4B_ENST00000542259.1_Missense_Mutation_p.A462G|FRMD4B_ENST00000478263.1_Missense_Mutation_p.A168G	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	516					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTTCTTTGCAGCTTCCACCAG	0.368																																																0			3											121	112	114					3																	69242966		1836	4094	5930	69325656	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1547C>G	3.37:g.69242966G>C	ENSP00000381549:p.Ala516Gly		69325656	Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941631	0.92526	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.92752	-3.1;-3.02	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.96189	0.9136	10	0.72032	D	0.01	-15.0061	19.8045	0.96525	0.0:0.0:1.0:0.0	.	360;516	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	G	516;462;168	ENSP00000381549:A516G;ENSP00000437658:A462G	ENSP00000381549:A516G	A	-	2	0	FRMD4B	69325656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.694000	0.91930	0.585000	0.79938	GCT		0.368	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			C	69242966	G	C	69242966	3	2	431	1	0	0	0	0	1	0	0	0	6052	971	34	3	1585	3	FRMD4B	3	69242966	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	2808421	69242966	128779464	27	23730											
ROBO1	6091	genome.wustl.edu	37	3	78710285	78710303	+	Frame_Shift_Del	DEL	GGATTACCACACTGTTTTT	GGATTACCACACTGTTTTT	-	rs35446711|rs574447995|rs34515208	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	GGATTACCACACTGTTTTT	GGATTACCACACTGTTTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:78710285_78710303delGGATTACCACACTGTTTTT	ENST00000464233.1	-	16	2310_2328	c.2197_2215delAAAAACAGTGTGGTAATCC	c.(2197-2217)aaaaacagtgtggtaatccctfs	p.KNSVVIP733fs	ROBO1_ENST00000436010.2_Frame_Shift_Del_p.KNSVVIP694fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.KNSVVIP697fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.KNSVVIP697fs	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	733	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTGAGATCAGGGATTACCACACTGTTTTTGGCTGGCGTC	0.416																																																0			3																																								78792993	SO:0001589	frameshift_variant	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2197_2215delAAAAACAGTGTGGTAATCC	3.37:g.78710285_78710303delGGATTACCACACTGTTTTT	ENSP00000420321:p.Lys733fs		78792975	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	37	CCDS54611.1																																																																																				0.416	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		-	78710303	GGATTACCACACTGTTTTT	-	78710285	7	5	431	1	0	1	0	1	0	0	0	0	13516	1232	43	0	2804	0	ROBO1	3	78710285	Frame_Shift_Del	DEL	GGATTACCACACTGTTTTT	TCGA-61-1900-01A-01W-0639-09	9467319	78710285	119312145	28	23731											
PLK4	10733	genome.wustl.edu	37	4	128813634	128813634	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr4:128813634C>A	ENST00000270861.5	+	10	2427	c.2153C>A	c.(2152-2154)tCt>tAt	p.S718Y	PLK4_ENST00000507249.1_Missense_Mutation_p.S657Y|PLK4_ENST00000513090.1_Missense_Mutation_p.S686Y|PLK4_ENST00000515069.1_Missense_Mutation_p.S640Y|PLK4_ENST00000514379.1_Missense_Mutation_p.S677Y|RNU6-583P_ENST00000516012.1_RNA	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	718					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGGAGAATTCTCCTGGTGCT	0.318																																					Colon(135;508 1718 19061 31832 42879)											0			4											150	138	142					4																	128813634		2202	4300	6502	129033084	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2153C>A	4.37:g.128813634C>A	ENSP00000270861:p.Ser718Tyr		129033084	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253542	0.22965	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.42	5.42	0.78866	.	0.168733	0.53938	D	0.000042	T	0.42607	0.1210	L	0.55103	1.725	0.44871	D	0.997885	D;D	0.65815	0.995;0.991	D;P	0.63113	0.911;0.817	T	0.26780	-1.0093	10	0.02654	T	1	-7.1128	14.7751	0.69726	0.0:0.8558:0.1442:0.0	.	686;718	O00444-2;O00444	.;PLK4_HUMAN	Y	718;640;686;657;677	ENSP00000270861:S718Y;ENSP00000421774:S640Y;ENSP00000427554:S686Y;ENSP00000423412:S657Y;ENSP00000423582:S677Y	ENSP00000270861:S718Y	S	+	2	0	PLK4	129033084	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.644000	0.61397	2.536000	0.85505	0.313000	0.20887	TCT		0.318	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			A	128813634	C	A	128813634	3	1	431	1	0	0	0	0	1	0	0	0	12098	913	32	3	2191	3	PLK4	4	128813634	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09		128813634	62340642	29	23732											
PAPD7	11044	genome.wustl.edu	37	5	6743882	6743882	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr5:6743882G>A	ENST00000230859.6	+	6	553	c.424G>A	c.(424-426)Gac>Aac	p.D142N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	372					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGCAGAGGGACCTGAATGA	0.343																																					NSCLC(7;212 333 5667 23379 46547)											0			5											144	148	146					5																	6743882		2203	4300	6503	6796882	SO:0001583	missense	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.424G>A	5.37:g.6743882G>A	ENSP00000230859:p.Asp142Asn		6796882	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094376	0.76870	.	.	ENSG00000112941	ENST00000230859	T	0.54675	0.56	4.97	4.97	0.65823	.	0.099127	0.64402	D	0.000002	T	0.43722	0.1260	N	0.26130	0.795	0.80722	D	1	B;B	0.33212	0.402;0.402	B;B	0.33846	0.119;0.171	T	0.37033	-0.9723	10	0.36615	T	0.2	1.1986	18.6326	0.91366	0.0:0.0:1.0:0.0	.	142;142	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	142	ENSP00000230859:D142N	ENSP00000230859:D142N	D	+	1	0	PAPD7	6796882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.170000	0.94795	2.461000	0.83175	0.655000	0.94253	GAC		0.343	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		A	6743882	G	A	6743882	3	1	431	1	0	0	0	0	1	0	0	0	11426	1174	41	2	442	2	PAPD7	5	6743882	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09		6743882	174171378	30	23733											
NAIP	4671	genome.wustl.edu	37	5	70308541	70308571	+	Frame_Shift_Del	DEL	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG	-	rs201454876|rs115486998	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr5:70308541_70308571delCAAAAGTCTTTAACCTTTTTGCTTCACTGCG	ENST00000517649.1	-	4	462_492	c.172_202delCGCAGTGAAGCAAAAAGGTTAAAGACTTTTG	c.(172-204)cgcagtgaagcaaaaaggttaaagacttttgtgfs	p.RSEAKRLKTFV58fs	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Frame_Shift_Del_p.RSEAKRLKTFV58fs|NAIP_ENST00000194097.4_Frame_Shift_Del_p.RSEAKRLKTFV58fs|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	58					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCATAAGTCACAAAAGTCTTTAACCTTTTTGCTTCACTGCGCATTTGAGAG	0.476																																																0			5																																								70344327	SO:0001589	frameshift_variant	4671			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.172_202delCGCAGTGAAGCAAAAAGGTTAAAGACTTTTG	5.37:g.70308541_70308571delCAAAAGTCTTTAACCTTTTTGCTTCACTGCG	ENSP00000428657:p.Arg58fs		70344297	B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Frame_Shift_Del	DEL	ENST00000517649.1	37	CCDS4009.1																																																																																				0.476	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		-	70308571	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG	-	70308541	7	5	431	1	0	1	0	1	0	0	0	0	10147	478	17	0	4065	0	NAIP	5	70308541	Frame_Shift_Del	DEL	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG	TCGA-61-1900-01A-01W-0639-09	63564659	70308541	110606719	31	23734											
HIST1H4C	8364	genome.wustl.edu	37	6	26104299	26104299	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:26104299G>C	ENST00000377803.2	+	1	196	c.124G>C	c.(124-126)Ggt>Cgt	p.G42R		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	42					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GGCTCGGCGCGGTGGCGTCAA	0.532																																																0			6											64	63	63					6																	26104299		2203	4300	6503	26212278	SO:0001583	missense	8364			X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.124G>C	6.37:g.26104299G>C	ENSP00000367034:p.Gly42Arg		26212278	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377803.2	37	CCDS4583.1	.	.	.	.	.	.	.	.	.	.	.	18.64	3.667879	0.67814	.	.	ENSG00000197061	ENST00000377803	T	0.68181	-0.31	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78112	-0.2331	7	0.66056	D	0.02	.	16.8752	0.86050	0.0:0.0:1.0:0.0	.	.	.	.	R	42	ENSP00000367034:G42R	ENSP00000367034:G42R	G	+	1	0	HIST1H4C	26212278	1.000000	0.71417	0.839000	0.33178	0.015000	0.08874	9.645000	0.98471	2.538000	0.85594	0.561000	0.74099	GGT		0.532	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		C	26104299	G	C	26104299	3	2	431	1	0	0	0	0	1	0	0	0	7167	1116	39	3	126	3	HIST1H4C	6	26104299	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09		26104299	145010768	32	23735											
ZFP57	4340	genome.wustl.edu	37	6	29641480	29641480	+	IGR	SNP	A	A	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:29641480A>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Silent_p.T136T|ZFP57_ENST00000376883.1_Silent_p.T116T|ZFP57_ENST00000376881.3_Silent_p.T116T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGTCATCACTAGTCCCCTCAT	0.517																																																0			6											146	158	154					6																	29641480		1225	2518	3743	29749459	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641480A>T			29749459	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	CCDS34370.1																																																																																				0.517	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		T	29641480	A	T	29641480	1	4	431	0	1	0	0	0	0	0	0	0	17651	407	15	5		5	ZFP57	6	29641480	IGR	SNP	A	TCGA-61-1900-01A-01W-0639-09	3537181	29641480	141473587	33	23736											
PGC	5225	genome.wustl.edu	37	6	41708260	41708260	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:41708260G>T	ENST00000373025.3	-	6	798	c.736C>A	c.(736-738)Cag>Aag	p.Q246K		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	246					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TAGAGTTCCTGGGTGACAGGC	0.617																																																0			6											108	105	106					6																	41708260		2203	4300	6503	41816238	SO:0001583	missense	5225				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.736C>A	6.37:g.41708260G>T	ENSP00000362116:p.Gln246Lys		41816238	B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	G	5.512	0.279502	0.10458	.	.	ENSG00000096088	ENST00000373025	T	0.27890	1.64	5.08	2.17	0.27698	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.620914	0.16642	N	0.205605	T	0.09158	0.0226	L	0.46741	1.465	0.21897	N	0.999485	P	0.35807	0.522	B	0.37943	0.261	T	0.30031	-0.9992	10	0.05351	T	0.99	.	11.5778	0.50873	0.0:0.2507:0.6193:0.13	.	246	P20142	PEPC_HUMAN	K	246	ENSP00000362116:Q246K	ENSP00000362116:Q246K	Q	-	1	0	PGC	41816238	0.003000	0.15002	0.945000	0.38365	0.002000	0.02628	0.665000	0.25083	0.716000	0.32124	-0.304000	0.09214	CAG		0.617	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			T	41708260	G	T	41708260	3	4	431	1	0	0	0	0	1	0	0	0	11785	1357	47	3	446	3	PGC	6	41708260	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	12066780	41708260	129406807	34	23737											
CDC5L	988	genome.wustl.edu	37	6	44364163	44364163	+	Silent	SNP	A	A	G	rs370065367		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:44364163A>G	ENST00000371477.3	+	5	824	c.525A>G	c.(523-525)caA>caG	p.Q175Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	175	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGAGAAACAATTGGAAGAAG	0.388																																																0			6											180	189	186					6																	44364163		2203	4300	6503	44472141	SO:0001819	synonymous_variant	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.525A>G	6.37:g.44364163A>G			44472141	Q76N46|Q99974	Silent	SNP	ENST00000371477.3	37	CCDS4912.1																																																																																				0.388	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			G	44364163	A	G	44364163	2	3	431	1	0	0	0	0	0	0	0	1	3082	98	4	4		4	CDC5L	6	44364163	Silent	SNP	A	TCGA-61-1900-01A-01W-0639-09	2655903	44364163	126750904	35	23738											
PLG	5340	genome.wustl.edu	37	6	161152920	161152920	+	Nonsense_Mutation	SNP	A	A	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:161152920A>T	ENST00000308192.9	+	12	1645	c.1582A>T	c.(1582-1584)Aaa>Taa	p.K528*		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	528	Kringle 5. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGGTCTGGAAAAAAATGTAAG	0.493																																																0			6											71	82	78					6																	161152920		2203	4300	6503	161072910	SO:0001587	stop_gained	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1582A>T	6.37:g.161152920A>T	ENSP00000308938:p.Lys528*		161072910	Q15146|Q5TEH4|Q6PA00	Nonsense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	32	5.189652	0.94923	.	.	ENSG00000122194	ENST00000308192	.	.	.	4.47	-2.83	0.05769	.	0.372159	0.19033	U	0.124497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6542	0.22979	0.2596:0.1985:0.542:0.0	.	.	.	.	X	528	.	ENSP00000308938:K528X	K	+	1	0	PLG	161072910	0.003000	0.15002	0.295000	0.24960	0.903000	0.53119	-0.125000	0.10579	-0.394000	0.07727	-0.385000	0.06624	AAA		0.493	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161152920	A	T	161152920	4	4	431	1	0	0	0	0	0	1	0	0	12086	15	1	5	1632	5	PLG	6	161152920	Nonsense_Mutation	SNP	A	TCGA-61-1900-01A-01W-0639-09	116788757	161152920	9962147	36	23739											
WIPF3	644150	genome.wustl.edu	37	7	29944001	29944027	+	Intron	DEL	GAATGTAAAACCAGGAATTCTCCTCAG	GAATGTAAAACCAGGAATTCTCCTCAG	-	rs34334657		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	GAATGTAAAACCAGGAATTCTCCTCAG	GAATGTAAAACCAGGAATTCTCCTCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:29944001_29944027delGAATGTAAAACCAGGAATTCTCCTCAG	ENST00000409290.1	+	7	1428				WIPF3_ENST00000409123.1_Stop_Codon_Del|WIPF3_ENST00000242140.5_Stop_Codon_Del	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3						cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TCATGTCTCTGAATGTAAAACCAGGAATTCTCCTCAGGAGGCACAGA	0.476																																																0			7																																								29910552	SO:0001627	intron_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1428+23GAATGTAAAACCAGGAATTCTCCTCAG>-	7.37:g.29944001_29944027delGAATGTAAAACCAGGAATTCTCCTCAG			29910526	B8ZZV2	Frame_Shift_Del	DEL	ENST00000409290.1	37	CCDS56472.1																																																																																				0.476	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			-	29944027	GAATGTAAAACCAGGAATTCTCCTCAG	-	29944001	6	5	431	0	1	1	0	1	0	0	0	0	17369	1285	45	0		0	WIPF3	7	29944001	Intron	DEL	GAATGTAAAACCAGGAATTCTCCTCAG	TCGA-61-1900-01A-01W-0639-09		29944001	129194662	37	23740											
HECW1	23072	genome.wustl.edu	37	7	43546773	43546773	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:43546773C>A	ENST00000395891.2	+	22	4274	c.3669C>A	c.(3667-3669)taC>taA	p.Y1223*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.Y1189*|AC011738.4_ENST00000436105.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1223					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTCCCCCTACCGAAGAGACT	0.473																																																0			7											82	87	85					7																	43546773		1839	4088	5927	43513298	SO:0001587	stop_gained	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3669C>A	7.37:g.43546773C>A	ENSP00000379228:p.Tyr1223*		43513298	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	45	12.066045	0.99632	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.9	3.12	0.35913	.	0.167173	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1631	0.48526	0.0:0.7964:0.0:0.2036	.	.	.	.	X	1223;1189;1223	.	ENSP00000265522:Y1223X	Y	+	3	2	HECW1	43513298	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	0.476000	0.22180	0.845000	0.35118	0.542000	0.68232	TAC		0.473	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43546773	C	A	43546773	4	1	431	1	0	0	0	0	0	1	0	0	7042	518	18	3	3747	3	HECW1	7	43546773	Nonsense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	13602772	43546773	115591890	38	23741											
MAGI2	9863	genome.wustl.edu	37	7	77756640	77756640	+	Silent	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:77756640C>T	ENST00000354212.4	-	19	3550	c.3297G>A	c.(3295-3297)agG>agA	p.R1099R	MAGI2_ENST00000419488.1_Silent_p.R1085R|MAGI2_ENST00000522391.1_Silent_p.R1099R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1099	Pro-rich.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGGGGTTGCCTGTAATCCA	0.587																																																0			7											103	99	100					7																	77756640		2203	4300	6503	77594576	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3297G>A	7.37:g.77756640C>T			77594576	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																				0.587	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	77756640	C	T	77756640	2	4	431	1	0	0	0	0	0	0	0	1	9191	738	26	2		2	MAGI2	7	77756640	Silent	SNP	C	TCGA-61-1900-01A-01W-0639-09	34209867	77756640	81382023	39	23742											
CREB3L2	64764	genome.wustl.edu	37	7	137613044	137613044	+	Silent	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:137613044G>C	ENST00000330387.6	-	2	522	c.171C>G	c.(169-171)ctC>ctG	p.L57L	CREB3L2_ENST00000452463.1_Silent_p.L57L|CREB3L2_ENST00000458726.1_5'UTR|CREB3L2_ENST00000456390.1_Silent_p.L57L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	57					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|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 positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCTTCTCTGAGAGGAAAGGAT	0.537			T	FUS	fibromyxoid sarcoma																																		Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0			7											57	51	53					7																	137613044		2203	4300	6503	137263584	SO:0001819	synonymous_variant	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.171C>G	7.37:g.137613044G>C			137263584	Q6P454|Q6ZMR6	Silent	SNP	ENST00000330387.6	37	CCDS34760.1																																																																																				0.537	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		C	137613044	G	C	137613044	2	2	431	1	0	0	0	0	0	0	0	1	3857	929	33	3		3	CREB3L2	7	137613044	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09	59856404	137613044	21525619	40	23743											
ADAM7	8756	genome.wustl.edu	37	8	24346763	24346763	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr8:24346763T>C	ENST00000175238.6	+	12	1266	c.1183T>C	c.(1183-1185)Ttt>Ctt	p.F395L	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.F395L|ADAM7_ENST00000520720.1_Missense_Mutation_p.F167L	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	395						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAACATTCCATTTCCTTACAA	0.403																																																0			8											148	124	132					8																	24346763		2203	4300	6503	24402653	SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1183T>C	8.37:g.24346763T>C	ENSP00000175238:p.Phe395Leu		24402653	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	T	2.221	-0.378401	0.05000	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.49720	1.67;1.67;0.77	5.52	-1.85	0.07784	Metallopeptidase, catalytic domain (1);	0.941369	0.08875	N	0.880919	T	0.16214	0.0390	N	0.01809	-0.71	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.28202	-1.0051	10	0.09843	T	0.71	.	5.6574	0.17650	0.1361:0.4129:0.0:0.451	.	167;395	E5RK87;Q9H2U9	.;ADAM7_HUMAN	L	395;395;167;210	ENSP00000175238:F395L;ENSP00000370166:F395L;ENSP00000430400:F167L	ENSP00000175238:F395L	F	+	1	0	ADAM7	24402653	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.156000	0.10100	-0.193000	0.10415	0.533000	0.62120	TTT		0.403	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		C	24346763	T	C	24346763	3	2	431	1	0	0	0	0	1	0	0	0	251	1493	52	4	1229	4	ADAM7	8	24346763	Missense_Mutation	SNP	T	TCGA-61-1900-01A-01W-0639-09		24346763	122017259	41	23744											
FLJ43860	389690	genome.wustl.edu	37	8	142446129	142446129	+	RNA	SNP	C	C	G	rs201798646	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr8:142446129C>G	ENST00000606664.1	+	0	1485				MROH5_ENST00000430863.1_RNA																							ACCAGGTCCCCGAACAGTGCC	0.667													C|||	16	0.00319489	0.0121	0	5008	,	,		17837	0		0	False		,,,				2504	0															0			8							ARG/GLY	32,4190		1,30,2080	31	38	36		3439	3.3	1	8		36	1,8409		0,1,4204	yes	missense	FLJ43860	NM_207414.2	125	1,31,6284	GG,GC,CC		0.0119,0.7579,0.2612	probably-damaging	1147/1319	142446129	33,12599	2111	4205	6316	142515311			389690																															8.37:g.142446129C>G			142515311		Missense_Mutation	SNP	ENST00000606664.1	37																																																																																					0.667	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			G	142446129	C	G	142446129	1	3	431	0	1	0	0	0	0	0	0	0	5930	652	23	3		3	FLJ43860	8	142446129	RNA	SNP	C	TCGA-61-1900-01A-01W-0639-09	118099366	142446129	3917893	42	23745											
GPAA1	8733	genome.wustl.edu	37	8	145140382	145140382	+	Splice_Site	SNP	G	G	A	rs374430537		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr8:145140382G>A	ENST00000355091.4	+	10	1572	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	GPAA1_ENST00000361036.6_Splice_Site_p.R424Q	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	484					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AATACCCACCGGTAAGAGGCT	0.607																																																0			8						G	GLN/ARG	0,4116		0,0,2058	37	42	40		1451	4.1	0.9	8		40	1,8403		0,1,4201	no	missense-near-splice	GPAA1	NM_003801.3	43	0,1,6259	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	484/622	145140382	1,12519	2058	4202	6260	145212370	SO:0001630	splice_region_variant	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1451+1G>A	8.37:g.145140382G>A			145212370	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468617	0.63625	0.0	1.19E-4	ENSG00000197858	ENST00000355091;ENST00000361036	.	.	.	5.0	4.13	0.48395	.	0.265447	0.34291	N	0.004100	T	0.67524	0.2902	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	P	0.59056	0.851	T	0.65928	-0.6049	9	0.27785	T	0.31	-5.0835	11.2809	0.49195	0.0887:0.0:0.9113:0.0	.	484	O43292	GPAA1_HUMAN	Q	484;424	.	ENSP00000347206:R484Q	R	+	2	0	GPAA1	145212370	1.000000	0.71417	0.947000	0.38551	0.162000	0.22319	6.459000	0.73513	1.340000	0.45581	0.655000	0.94253	CGG		0.607	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801	Missense_Mutation	A	145140382	G	A	145140382	5	1	431	1	0	0	0	0	0	0	1	0	6587	1130	39	1	1489	1	GPAA1	8	145140382	Splice_Site	SNP	G	TCGA-61-1900-01A-01W-0639-09	2694253	145140382	1223640	43	23746											
ZNF16	7564	genome.wustl.edu	37	8	146171450	146171450	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr8:146171450G>C	ENST00000276816.4	-	3	329	c.143C>G	c.(142-144)cCc>cGc	p.P48R	ZNF16_ENST00000394909.2_Missense_Mutation_p.P48R	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	48					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		ACTACAGCAGGGGGTACCACA	0.587																																																0			8											82	78	80					8																	146171450		2203	4300	6503	146142254	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.143C>G	8.37:g.146171450G>C	ENSP00000276816:p.Pro48Arg		146142254	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	0.714	-0.786135	0.02907	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	T;T;T;T	0.45668	3.18;3.18;4.61;0.89	3.44	-0.734	0.11140	.	.	.	.	.	T	0.17450	0.0419	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.17930	-1.0353	9	0.28530	T	0.3	.	2.3879	0.04370	0.5179:0.0:0.2526:0.2295	.	48	P17020	ZNF16_HUMAN	R	48	ENSP00000276816:P48R;ENSP00000378369:P48R;ENSP00000434321:P48R;ENSP00000432755:P48R	ENSP00000276816:P48R	P	-	2	0	ZNF16	146142254	0.152000	0.22762	0.001000	0.08648	0.057000	0.15508	0.084000	0.14891	-0.075000	0.12798	-0.290000	0.09829	CCC		0.587	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		C	146171450	G	C	146171450	3	2	431	1	0	0	0	0	1	0	0	0	17738	1232	43	3	1913	3	ZNF16	8	146171450	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	1031068	146171450	192572	44	23747											
GDA	9615	genome.wustl.edu	37	9	74840676	74840676	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr9:74840676T>G	ENST00000358399.3	+	8	891	c.798T>G	c.(796-798)gaT>gaG	p.D266E	GDA_ENST00000238018.4_Missense_Mutation_p.D266E|GDA_ENST00000376989.3_Missense_Mutation_p.D205E|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.D188E|GDA_ENST00000545168.1_Missense_Mutation_p.D192E	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	266					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTGTGTATGATAAAAACAATC	0.274																																																0			9											66	75	72					9																	74840676		2202	4283	6485	74030496	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.798T>G	9.37:g.74840676T>G	ENSP00000351170:p.Asp266Glu		74030496	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422206	0.43020	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.82	2.23	0.28157	Amidohydrolase 1 (1);	0.319696	0.36932	N	0.002333	D	0.84705	0.5531	L	0.37750	1.13	0.38555	D	0.949555	B;B;B	0.29766	0.256;0.106;0.129	B;B;B	0.35607	0.206;0.092;0.191	T	0.78206	-0.2294	10	0.37606	T	0.19	-16.7935	7.2005	0.25879	0.0:0.3491:0.0:0.6509	.	188;266;266	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	E	192;266;205;188;266;132	ENSP00000437972:D192E;ENSP00000238018:D266E;ENSP00000366188:D205E;ENSP00000366185:D188E;ENSP00000351170:D266E;ENSP00000403897:D132E	ENSP00000238018:D266E	D	+	3	2	GDA	74030496	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	0.276000	0.18716	0.475000	0.27415	0.533000	0.62120	GAT		0.274	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			G	74840676	T	G	74840676	3	3	431	1	0	0	0	0	1	0	0	0	6306	1403	49	5	828	5	GDA	9	74840676	Missense_Mutation	SNP	T	TCGA-61-1900-01A-01W-0639-09		74840676	66372755	45	23748											
TAL2	6887	genome.wustl.edu	37	9	108424874	108424876	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CCT	CCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr9:108424874_108424876delCCT	ENST00000334077.3	+	1	137_139	c.97_99delCCT	c.(97-99)cctdel	p.P34del		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	34	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										CCCCACTCACCCTCCAGACAAAA	0.507			T	TRB@	T-ALL																																		Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	0			9																																								107464697	SO:0001651	inframe_deletion	6887				CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"Basic helix-loop-helix proteins"	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.97_99delCCT	9.37:g.108424874_108424876delCCT	ENSP00000334547:p.Pro34del		107464695	A0AVI7	In_Frame_Del	DEL	ENST00000334077.3	37	CCDS6767.1																																																																																				0.507	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		-	108424876	CCT	-	108424874	7	5	431	1	0	1	0	1	0	0	0	0	15542	623	22	0	99	0	TAL2	9	108424874	In_Frame_Del	DEL	CCT	TCGA-61-1900-01A-01W-0639-09	33584198	108424874	32788557	46	23749											
TSC1	7248	genome.wustl.edu	37	9	135779829	135779829	+	Silent	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr9:135779829G>T	ENST00000298552.3	-	16	2231	c.2010C>A	c.(2008-2010)ccC>ccA	p.P670P	TSC1_ENST00000545250.1_Silent_p.P619P|TSC1_ENST00000440111.2_Silent_p.P670P	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	670					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CAGACTTGCTGGGTAAAGGCA	0.423			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)	9											68	65	66					9																	135779829		2203	4300	6503	134769650	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2010C>A	9.37:g.135779829G>T			134769650	B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	CCDS6956.1																																																																																				0.423	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			T	135779829	G	T	135779829	2	4	431	1	0	0	0	0	0	0	0	1	16605	1335	47	3		3	TSC1	9	135779829	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09	27354955	135779829	5433602	47	23750											
PTEN	5728	genome.wustl.edu	37	10	89711873	89711873	+	Splice_Site	SNP	A	A	C	rs587781784		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr10:89711873A>C	ENST00000371953.3	+	6	1849		c.e6-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y27fs*1(2)|p.K163_V166>NKGE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTGTCCACCAGGGAGTAACT	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	49	Whole gene deletion(37)|Deletion - Frameshift(7)|Unknown(4)|Complex - compound substitution(1)	prostate(16)|central_nervous_system(11)|skin(5)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|thyroid(1)|soft_tissue(1)|urinary_tract(1)	10	GRCh37	CS075218	PTEN	S							103	106	105					10																	89711873		2203	4300	6503	89701853	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.493-1A>C	10.37:g.89711873A>C			89701853	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.875406	0.72180	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0449	0.80714	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89701853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.862000	0.92283	2.198000	0.70561	0.482000	0.46254	.		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	C	89711873	A	C	89711873	5	2	431	1	0	0	0	0	0	0	1	0	12741	202	7	5	513	5	PTEN	10	89711873	Splice_Site	SNP	A	TCGA-61-1900-01A-01W-0639-09		89711873	45822874	48	23751											
CTBP2	1488	genome.wustl.edu	37	10	126716039	126716039	+	Intron	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr10:126716039G>C	ENST00000337195.5	-	3	458				CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.A97G|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGACATCACTGCCTGTCTGCT	0.597																																																0			10											102	88	93					10																	126716039		2203	4300	6503	126706029	SO:0001627	intron_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11526C>G	10.37:g.126716039G>C			126706029	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950606	0.53186	.	.	ENSG00000175029	ENST00000309035	D	0.95377	-3.69	4.7	3.8	0.43715	.	0.171410	0.38436	N	0.001695	D	0.91637	0.7357	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.13407	0.009	D	0.88346	0.2978	9	0.52906	T	0.07	.	9.5193	0.39124	0.0797:0.1461:0.7742:0.0	.	97	P56545-2	.	G	97	ENSP00000311825:A97G	ENSP00000311825:A97G	A	-	2	0	CTBP2	126706029	0.982000	0.34865	0.964000	0.40570	0.992000	0.81027	2.969000	0.49232	2.608000	0.88229	0.655000	0.94253	GCA		0.597	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		C	126716039	G	C	126716039	1	2	431	0	1	0	0	0	0	0	0	0	3998	1319	46	3		3	CTBP2	10	126716039	Intron	SNP	G	TCGA-61-1900-01A-01W-0639-09	37004166	126716039	8818708	49	23752											
TMEM9B	56674	genome.wustl.edu	37	11	8969996	8969996	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:8969996G>T	ENST00000534025.1	-	5	927	c.468C>A	c.(466-468)caC>caA	p.H156Q	TMEM9B_ENST00000525069.1_Missense_Mutation_p.H82Q|TMEM9B_ENST00000309134.5_Missense_Mutation_p.H82Q	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	156					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		CTAGCACATCGTGTGCATTTG	0.502																																																0			11											87	79	82					11																	8969996		2201	4296	6497	8926572	SO:0001583	missense	56674			AJ400877	CCDS7796.1, CCDS66021.1	11p15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000175348	ENSG00000175348			1168	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 15"	C11orf15		11528127	Standard	NM_001286095		Approved		uc001mhe.1	Q9NQ34	OTTHUMG00000165676	ENST00000534025.1:c.468C>A	11.37:g.8969996G>T	ENSP00000433361:p.His156Gln		8926572	Q7Z649	Missense_Mutation	SNP	ENST00000534025.1	37	CCDS7796.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662065	0.29515	.	.	ENSG00000175348	ENST00000309134;ENST00000534025;ENST00000525069	.	.	.	5.86	-10.1	0.00402	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.44542	1.39	0.80722	D	1	D	0.60160	0.987	D	0.76575	0.988	T	0.82311	-0.0520	9	0.12430	T	0.62	.	18.2932	0.90137	0.4137:0.0:0.5863:0.0	.	156	Q9NQ34	TMM9B_HUMAN	Q	82;156;82	.	ENSP00000311842:H82Q	H	-	3	2	TMEM9B	8926572	0.001000	0.12720	0.734000	0.30879	0.967000	0.64934	-1.175000	0.03102	-1.689000	0.01434	-1.105000	0.02106	CAC		0.502	TMEM9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385722.1			T	8969996	G	T	8969996	3	4	431	1	0	0	0	0	1	0	0	0	16227	1136	40	3	132	3	TMEM9B	11	8969996	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09		8969996	126036520	50	23753											
SLC22A6	9356	genome.wustl.edu	37	11	62751890	62751890	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:62751890G>A	ENST00000377871.3	-	1	539	c.273C>T	c.(271-273)ctC>ctT	p.L91L	SLC22A6_ENST00000421062.2_Silent_p.L91L|SLC22A6_ENST00000458333.2_Silent_p.L91L|SLC22A6_ENST00000360421.4_Silent_p.L91L|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	91					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTGTGCCATTGAGAAAGGGCA	0.632																																																0			11											83	82	82					11																	62751890		2201	4298	6499	62508466	SO:0001819	synonymous_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.273C>T	11.37:g.62751890G>A			62508466	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	CCDS31591.1																																																																																				0.632	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		A	62751890	G	A	62751890	2	1	431	1	0	0	0	0	0	0	0	1	14461	1277	45	2		2	SLC22A6	11	62751890	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09	53781894	62751890	72254626	51	23754											
SIK3	23387	genome.wustl.edu	37	11	116730204	116730204	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:116730204G>C	ENST00000292055.4	-	19	2259	c.2224C>G	c.(2224-2226)Cag>Gag	p.Q742E	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.Q137E|SIK3_ENST00000375300.1_Missense_Mutation_p.Q800E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q742E|SIK3_ENST00000446921.2_Missense_Mutation_p.Q800E|SIK3_ENST00000434315.2_Missense_Mutation_p.Q641E	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	742	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGAGCAGGCTGCTGCATACCC	0.567											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			11											104	97	99					11																	116730204		2201	4296	6497	116235414	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2224C>G	11.37:g.116730204G>C	ENSP00000292055:p.Gln742Glu	1475	116235414	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.430588|4.430588	0.83776|0.83776	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.76578	.|-1.01;-1.03;0.9;-0.89;-0.55	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.39341	.|U	.|0.001389	T|T	0.77267|0.77267	0.4105|0.4105	L|L	0.29908|0.29908	0.895|0.895	0.49213|0.49213	D|D	0.999765|0.999765	.|P;D;P;D;P	.|0.54047	.|0.955;0.964;0.924;0.964;0.852	.|P;P;P;P;B	.|0.51777	.|0.679;0.561;0.475;0.561;0.359	T|T	0.79636|0.79636	-0.1721|-0.1721	5|10	.|0.54805	.|T	.|0.06	.|.	18.2702|18.2702	0.90065|0.90065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|742;742;641;742;137	.|Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;.;SIK3_HUMAN;.	G|E	841;764|800;742;137;742;641	.|ENSP00000364449:Q800E;ENSP00000292055:Q742E;ENSP00000364437:Q137E;ENSP00000438108:Q742E;ENSP00000415873:Q641E	.|ENSP00000292055:Q742E	A|Q	-|-	2|1	0|0	SIK3|SIK3	116235414|116235414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.583000|4.583000	0.60964|0.60964	2.527000|2.527000	0.85204|0.85204	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.567	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		C	116730204	G	C	116730204	3	2	431	1	0	0	0	0	1	0	0	0	14322	1328	46	3	1587	3	SIK3	11	116730204	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	53978314	116730204	18276312	52	23755											
IRAK4	51135	genome.wustl.edu	37	12	44166117	44166117	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr12:44166117C>G	ENST00000448290.2	+	4	513	c.442C>G	c.(442-444)Cct>Gct	p.P148A	IRAK4_ENST00000431837.1_Missense_Mutation_p.P24A|IRAK4_ENST00000440781.2_Missense_Mutation_p.P24A|IRAK4_ENST00000551736.1_Missense_Mutation_p.P148A	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	148					cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CTATATGCCACCTGACTCCTC	0.378																																																0			12											108	100	102					12																	44166117		2203	4300	6503	42452384	SO:0001583	missense	51135			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.442C>G	12.37:g.44166117C>G	ENSP00000390651:p.Pro148Ala		42452384	Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808140	0.31961	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.77358	-1.0;-1.0;-1.09;-1.09	5.39	4.49	0.54785	.	0.345896	0.33457	N	0.004896	T	0.66858	0.2832	L	0.38838	1.175	0.19775	N	0.99996	B	0.25351	0.124	B	0.21546	0.035	T	0.57814	-0.7746	10	0.39692	T	0.17	-8.3473	10.1273	0.42658	0.0:0.9075:0.0:0.0925	.	148	Q9NWZ3	IRAK4_HUMAN	A	24;24;148;148;148	ENSP00000408734:P24A;ENSP00000390327:P24A;ENSP00000390651:P148A;ENSP00000446490:P148A	ENSP00000349096:P148A	P	+	1	0	IRAK4	42452384	0.075000	0.21258	0.433000	0.26760	0.018000	0.09664	0.706000	0.25690	1.405000	0.46838	0.655000	0.94253	CCT		0.378	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			G	44166117	C	G	44166117	3	3	431	1	0	0	0	0	1	0	0	0	7825	507	18	3	452	3	IRAK4	12	44166117	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09		44166117	89685778	53	23756											
STAT6	6778	genome.wustl.edu	37	12	57501018	57501037	+	Frame_Shift_Del	DEL	TCCATAACAGCTTTTTTCTC	TCCATAACAGCTTTTTTCTC	-	rs570858641		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	TCCATAACAGCTTTTTTCTC	TCCATAACAGCTTTTTTCTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr12:57501018_57501037delTCCATAACAGCTTTTTTCTC	ENST00000300134.3	-	4	641_660	c.316_335delGAGAAAAAAGCTGTTATGGA	c.(316-336)gagaaaaaagctgttatggaafs	p.EKKAVME106fs	STAT6_ENST00000454075.3_Frame_Shift_Del_p.EKKAVME106fs|STAT6_ENST00000537215.2_Start_Codon_Del|STAT6_ENST00000556155.1_Frame_Shift_Del_p.EKKAVME106fs|STAT6_ENST00000538913.2_Start_Codon_Del|STAT6_ENST00000543873.2_Frame_Shift_Del_p.EKKAVME106fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	106					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAATACCTGTTCCATAACAGCTTTTTTCTCTCCTTGAAGT	0.45																																																0			12																																								55787304	SO:0001589	frameshift_variant	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.316_335delGAGAAAAAAGCTGTTATGGA	12.37:g.57501018_57501037delTCCATAACAGCTTTTTTCTC	ENSP00000300134:p.Glu106fs		55787285	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Del	DEL	ENST00000300134.3	37	CCDS8931.1																																																																																				0.45	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		-	57501037	TCCATAACAGCTTTTTTCTC	-	57501018	7	5	431	1	0	1	0	1	0	0	0	0	15272	1783	62	0	2284	0	STAT6	12	57501018	Frame_Shift_Del	DEL	TCCATAACAGCTTTTTTCTC	TCGA-61-1900-01A-01W-0639-09	13334901	57501018	76350877	54	23757											
MON2	23041	genome.wustl.edu	37	12	62926226	62926226	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr12:62926226T>A	ENST00000393632.2	+	12	1800	c.1409T>A	c.(1408-1410)aTg>aAg	p.M470K	MON2_ENST00000552115.1_Missense_Mutation_p.M470K|MON2_ENST00000393630.3_Missense_Mutation_p.M470K|MON2_ENST00000546600.1_Missense_Mutation_p.M470K|MON2_ENST00000393629.2_Missense_Mutation_p.M470K|MON2_ENST00000280379.6_Missense_Mutation_p.M470K|MON2_ENST00000552738.1_Missense_Mutation_p.M470K	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	470					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGCTTAGAAATGTTGGACAAA	0.328																																																0			12											108	92	98					12																	62926226		2203	4300	6503	61212493	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1409T>A	12.37:g.62926226T>A	ENSP00000377252:p.Met470Lys		61212493	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354907	0.82243	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.55413	0.53;0.52;0.52;0.53;0.53;0.53;0.54	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.69823	2.125	0.80722	D	1	P;P;P;D	0.54601	0.944;0.876;0.93;0.967	B;P;P;P	0.54664	0.391;0.66;0.66;0.758	T	0.67245	-0.5719	9	.	.	.	-15.8386	15.4237	0.75035	0.0:0.0:0.0:1.0	.	470;470;470;470	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	K	470;470;470;470;398;470;470;470	ENSP00000377252:M470K;ENSP00000377250:M470K;ENSP00000280379:M470K;ENSP00000447407:M470K;ENSP00000449215:M470K;ENSP00000377249:M470K;ENSP00000446635:M470K	.	M	+	2	0	MON2	61212493	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.040000	0.89188	2.030000	0.59900	0.460000	0.39030	ATG		0.328	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		A	62926226	T	A	62926226	3	1	431	1	0	0	0	0	1	0	0	0	9700	1464	51	5	1455	5	MON2	12	62926226	Missense_Mutation	SNP	T	TCGA-61-1900-01A-01W-0639-09	5425208	62926226	70925669	55	23758											
LIN7A	8825	genome.wustl.edu	37	12	81205336	81205336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr12:81205336G>A	ENST00000552864.1	-	5	812	c.610C>T	c.(610-612)Cga>Tga	p.R204*		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	204					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTGGCTGTTCGTAGCTTTTCA	0.502																																																0			12											98	86	90					12																	81205336		2203	4300	6503	79729467	SO:0001587	stop_gained	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.610C>T	12.37:g.81205336G>A	ENSP00000447488:p.Arg204*		79729467	A4FTY3|Q147W1|Q6LES3|Q7LDS4	Nonsense_Mutation	SNP	ENST00000552864.1	37	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	G	37	6.427195	0.97559	.	.	ENSG00000111052	ENST00000552864	.	.	.	5.28	4.38	0.52667	.	0.111853	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9628	12.5577	0.56263	0.0:0.0:0.5444:0.4556	.	.	.	.	X	204	.	ENSP00000447488:R204X	R	-	1	2	LIN7A	79729467	0.990000	0.36364	0.967000	0.41034	0.988000	0.76386	1.772000	0.38552	1.199000	0.43173	0.591000	0.81541	CGA		0.502	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			A	81205336	G	A	81205336	4	1	431	1	0	0	0	0	0	1	0	0	8810	1153	40	1	95	1	LIN7A	12	81205336	Nonsense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	18279110	81205336	52646559	56	23759											
FNDC3A	22862	genome.wustl.edu	37	13	49580384	49580384	+	Missense_Mutation	SNP	C	C	G	rs372893646		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr13:49580384C>G	ENST00000492622.2	+	2	363	c.58C>G	c.(58-60)Ctt>Gtt	p.L20V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.L20V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	20					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGATATTTCTCTTTTGTCTGC	0.328																																																0			13						C	VAL/LEU	0,3712		0,0,1856	156	143	147		58	5.3	1	13		147	1,8191		0,1,4095	no	missense	FNDC3A	NM_001079673.1	32	0,1,5951	GG,GC,CC		0.0122,0.0,0.0084	benign	20/1199	49580384	1,11903	1856	4096	5952	48478385	SO:0001583	missense	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.58C>G	13.37:g.49580384C>G	ENSP00000417257:p.Leu20Val		48478385	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733046	0.48939	0.0	1.22E-4	ENSG00000102531	ENST00000492622;ENST00000541916	T;T	0.36699	1.24;1.24	5.35	5.35	0.76521	.	0.000000	0.53938	D	0.000042	T	0.29749	0.0743	L	0.39898	1.24	0.37888	D	0.930625	B	0.32829	0.386	B	0.24269	0.052	T	0.15065	-1.0450	10	0.34782	T	0.22	-6.3703	16.9059	0.86127	0.0:1.0:0.0:0.0	.	20	Q9Y2H6	FND3A_HUMAN	V	20	ENSP00000417257:L20V;ENSP00000441831:L20V	ENSP00000420275:L20V	L	+	1	0	FNDC3A	48478385	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.867000	0.63013	2.660000	0.90430	0.563000	0.77884	CTT		0.328	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		G	49580384	C	G	49580384	3	3	431	1	0	0	0	0	1	0	0	0	5969	913	32	3	60	3	FNDC3A	13	49580384	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09		49580384	65589494	57	23760											
OLFM4	10562	genome.wustl.edu	37	13	53624434	53624434	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr13:53624434C>A	ENST00000219022.2	+	5	1139	c.1061C>A	c.(1060-1062)aCc>aAc	p.T354N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	354	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTTAACCTGACCACCAACACG	0.438																																																0			13											186	170	175					13																	53624434		2203	4300	6503	52522435	SO:0001583	missense	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1061C>A	13.37:g.53624434C>A	ENSP00000219022:p.Thr354Asn		52522435	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	8.991	0.977692	0.18812	.	.	ENSG00000102837	ENST00000219022	T	0.10763	2.84	5.92	1.75	0.24633	Olfactomedin-like (3);	0.401329	0.31601	N	0.007375	T	0.06872	0.0175	N	0.16708	0.43	0.24866	N	0.99231	B	0.20459	0.045	B	0.29598	0.104	T	0.41342	-0.9514	10	0.17369	T	0.5	.	10.8873	0.46974	0.5023:0.4072:0.0906:0.0	.	354	Q6UX06	OLFM4_HUMAN	N	354	ENSP00000219022:T354N	ENSP00000219022:T354N	T	+	2	0	OLFM4	52522435	0.013000	0.17824	0.445000	0.26908	0.318000	0.28184	0.375000	0.20518	0.377000	0.24735	0.650000	0.86243	ACC		0.438	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		A	53624434	C	A	53624434	3	1	431	1	0	0	0	0	1	0	0	0	10855	507	18	3	1079	3	OLFM4	13	53624434	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	4044050	53624434	61545444	58	23761											
RPGRIP1	57096	genome.wustl.edu	37	14	21794271	21794271	+	Silent	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:21794271C>A	ENST00000400017.2	+	16	2649	c.2649C>A	c.(2647-2649)ggC>ggA	p.G883G	RPGRIP1_ENST00000557771.1_Silent_p.G845G|RPGRIP1_ENST00000307974.4_Silent_p.G242G|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Silent_p.G883G|RPGRIP1_ENST00000556336.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	883	C2.		G -> D. {ECO:0000269|PubMed:21224891}.		eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TAGAGCCTGGCTCGTATCTTG	0.488																																																0			14											88	84	85					14																	21794271		1901	4109	6010	20864111	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2649C>A	14.37:g.21794271C>A			20864111	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	CCDS45080.1																																																																																				0.488	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		A	21794271	C	A	21794271	2	1	431	1	0	0	0	0	0	0	0	1	13552	784	28	3		3	RPGRIP1	14	21794271	Silent	SNP	C	TCGA-61-1900-01A-01W-0639-09		21794271	85555269	59	23762											
OXA1L	9056	genome.wustl.edu	37	14	23240265	23240289	+	IGR	DEL	CCTGGTCCAAGTATCCTGTCTCCGG	CCTGGTCCAAGTATCCTGTCTCCGG	-	rs548170952|rs375270103		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CCTGGTCCAAGTATCCTGTCTCCGG	CCTGGTCCAAGTATCCTGTCTCCGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:23240265_23240289delCCTGGTCCAAGTATCCTGTCTCCGG	ENST00000397532.3	-	0	2447				OXA1L_ENST00000285848.5_Frame_Shift_Del_p.SLVQVSCLR386fs|OXA1L_ENST00000358043.5_Frame_Shift_Del_p.SLVQVSCLR310fs|OXA1L_ENST00000412791.1_Frame_Shift_Del_p.SLVQVSCLR326fs|OXA1L_ENST00000604262.1_Frame_Shift_Del_p.SLVQVSCLR326fs|SLC7A7_ENST00000554061.1_5'Flank			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ATTTGTTTTCCCTGGTCCAAGTATCCTGTCTCCGGATTCCAGCAG	0.498																																																0			14																																								22310129	SO:0001628	intergenic_variant	5018			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23240265_23240289delCCTGGTCCAAGTATCCTGTCTCCGG			22310105	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Frame_Shift_Del	DEL	ENST00000397532.3	37	CCDS9574.1																																																																																				0.498	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			-	23240289	CCTGGTCCAAGTATCCTGTCTCCGG	-	23240265	6	5	431	0	1	1	0	1	0	0	0	0	11328	610	22	0		0	OXA1L	14	23240265	IGR	DEL	CCTGGTCCAAGTATCCTGTCTCCGG	TCGA-61-1900-01A-01W-0639-09	1445994	23240265	84109275	60	23763											
SIX1	6495	genome.wustl.edu	37	14	61113247	61113247	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:61113247G>A	ENST00000247182.6	-	2	881	c.609C>T	c.(607-609)ctC>ctT	p.L203L	SIX1_ENST00000554986.1_Silent_p.L30L	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	203					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCAGAGGAGAGAGTTGGTTCT	0.458																																																0			14											84	73	77					14																	61113247		2203	4300	6503	60183000	SO:0001819	synonymous_variant	6495			X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"Homeoboxes / SINE class"	10887	protein-coding gene	gene with protein product		601205	"sine oculis homeobox (Drosophila) homolog 1", "sine oculis homeobox homolog 1 (Drosophila)", "deafness, autosomal dominant 23"	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.609C>T	14.37:g.61113247G>A			60183000	Q53Y16|Q96H64	Silent	SNP	ENST00000247182.6	37	CCDS9748.1																																																																																				0.458	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			A	61113247	G	A	61113247	2	1	431	1	0	0	0	0	0	0	0	1	14349	929	33	2		2	SIX1	14	61113247	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09	37872982	61113247	46236293	61	23764											
KCNH5	27133	genome.wustl.edu	37	14	63483597	63483597	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:63483597A>G	ENST00000322893.7	-	2	417	c.149T>C	c.(148-150)cTc>cCc	p.L50P	KCNH5_ENST00000394964.2_5'UTR|KCNH5_ENST00000420622.2_Missense_Mutation_p.L50P|KCNH5_ENST00000394968.1_5'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	50	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATATCCAGAGAGTTTACAAAA	0.373																																																0			14											102	93	96					14																	63483597		2203	4299	6502	62553350	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.149T>C	14.37:g.63483597A>G	ENSP00000321427:p.Leu50Pro		62553350	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503104	0.85176	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.99760	-6.66;-6.66	5.43	5.43	0.79202	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99813	0.9918	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	D	0.96823	0.9605	10	0.87932	D	0	.	15.4803	0.75521	1.0:0.0:0.0:0.0	.	50;50	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	P	50	ENSP00000321427:L50P;ENSP00000395439:L50P	ENSP00000321427:L50P	L	-	2	0	KCNH5	62553350	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.077000	0.62373	0.482000	0.46254	CTC		0.373	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		G	63483597	A	G	63483597	3	3	431	1	0	0	0	0	1	0	0	0	8035	304	11	4	2891	4	KCNH5	14	63483597	Missense_Mutation	SNP	A	TCGA-61-1900-01A-01W-0639-09	2370350	63483597	43865943	62	23765											
NRXN3	9369	genome.wustl.edu	37	14	79746731	79746731	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:79746731G>C	ENST00000557594.1	+	1	1050	c.97G>C	c.(97-99)Gta>Cta	p.V33L	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.V33L|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.V33L	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	33					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGTCAGCTCTGTATGGAGTTC	0.587																																																0			14											211	191	198					14																	79746731		2203	4300	6503	78816484	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.97G>C	14.37:g.79746731G>C	ENSP00000451672:p.Val33Leu		78816484	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37		.	.	.	.	.	.	.	.	.	.	G	23.2	4.385827	0.82792	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35789	1.42;1.49;1.29	5.86	5.86	0.93980	.	.	.	.	.	T	0.28300	0.0699	L	0.27053	0.805	0.80722	D	1	B;B;B	0.29301	0.241;0.241;0.067	B;B;B	0.26517	0.07;0.07;0.032	T	0.04090	-1.0978	8	.	.	.	.	18.3577	0.90364	0.0:0.0:1.0:0.0	.	33;33;33	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	L	33	ENSP00000451672:V33L;ENSP00000281127:V33L;ENSP00000394426:V33L	.	V	+	1	0	NRXN3	78816484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.573000	0.67417	2.778000	0.95560	0.655000	0.94253	GTA		0.587	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		C	79746731	G	C	79746731	3	2	431	1	0	0	0	0	1	0	0	0	10667	1377	48	3	2282	3	NRXN3	14	79746731	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	16263134	79746731	27602809	63	23766											
MKRN3	7681	genome.wustl.edu	37	15	23811154	23811154	+	Silent	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr15:23811154C>T	ENST00000314520.3	+	1	701	c.225C>T	c.(223-225)gcC>gcT	p.A75A	MKRN3_ENST00000568252.1_Silent_p.A75A|MKRN3_ENST00000564592.1_Silent_p.A75A|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	75					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGAGGCCTGCCCCAGCCTCAG	0.627																																																0			15											29	30	30					15																	23811154		2203	4300	6503	21362247	SO:0001819	synonymous_variant	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.225C>T	15.37:g.23811154C>T			21362247		Silent	SNP	ENST00000314520.3	37	CCDS10013.1																																																																																				0.627	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		T	23811154	C	T	23811154	2	4	431	1	0	0	0	0	0	0	0	1	9608	610	22	2		2	MKRN3	15	23811154	Silent	SNP	C	TCGA-61-1900-01A-01W-0639-09		23811154	78720238	64	23767											
C16orf73	254528	genome.wustl.edu	37	16	1889263	1889263	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr16:1889263C>A	ENST00000397344.3	-	12	1405	c.1211G>T	c.(1210-1212)gGc>gTc	p.G404V	LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000412554.2_Missense_Mutation_p.G404V|MEIOB_ENST00000470044.1_Missense_Mutation_p.G197V|MEIOB_ENST00000325962.3_Missense_Mutation_p.G404V|FAHD1_ENST00000382666.4_3'UTR|MEIOB_ENST00000452149.2_Missense_Mutation_p.G404V|FAHD1_ENST00000382668.4_Splice_Site_p.P213T	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	404					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										TACCGTGCAGCCCAAAGTCTC	0.388																																																0			16											69	65	67					16																	1889263		2199	4300	6499	1829264	SO:0001583	missense	254528			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 73"	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.1211G>T	16.37:g.1889263C>A	ENSP00000380504:p.Gly404Val		1829264	B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	CCDS10449.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.97|18.97	3.736747|3.736747	0.69304|0.69304	.|.	.|.	ENSG00000162039|ENSG00000180185	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344|ENST00000382668	T;T;T;T|D	0.12879|0.94723	2.64;2.64;2.64;2.64|-3.5	5.97|5.97	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89312|0.89312	0.6679|0.6679	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|B	0.71674|0.12013	0.998;0.998|0.005	D;D|B	0.72075|0.10450	0.976;0.964|0.005	D|D	0.84046|0.84046	0.0367|0.0367	9|7	0.87932|.	D|.	0|.	.|.	9.857|9.857	0.41092|0.41092	0.0:0.7878:0.1383:0.0739|0.0:0.7878:0.1383:0.0739	.|.	404;404|213	C9J0S1;Q8N635|Q6P587-2	.;CP073_HUMAN|.	V|T	404|213	ENSP00000390778:G404V;ENSP00000391033:G404V;ENSP00000314484:G404V;ENSP00000380504:G404V|ENSP00000372114:P213T	ENSP00000314484:G404V|.	G|P	-|+	2|1	0|0	C16orf73|FAHD1	1829264|1829264	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.990000|1.990000	0.40717|0.40717	1.534000|1.534000	0.49203|0.49203	0.585000|0.585000	0.79938|0.79938	GGC|CCC		0.388	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		A	1889263	C	A	1889263	3	1	431	1	0	0	0	0	1	0	0	0	1832	753	26	3	216	3	C16orf73	16	1889263	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09		1889263	88465490	65	23768											
TAOK2	9344	genome.wustl.edu	37	16	29994521	29994521	+	Silent	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr16:29994521C>T	ENST00000308893.4	+	12	2171	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	TAOK2_ENST00000416441.2_Silent_p.D203D|TAOK2_ENST00000543033.1_Silent_p.D376D|TAOK2_ENST00000279394.3_Silent_p.D376D	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	376					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGCCTCAGACAACgaggaag	0.612																																																0			16											53	57	56					16																	29994521		2197	4300	6497	29902022	SO:0001819	synonymous_variant	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1128C>T	16.37:g.29994521C>T			29902022	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	CCDS10663.1																																																																																				0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		T	29994521	C	T	29994521	2	4	431	1	0	0	0	0	0	0	0	1	15548	477	17	2		2	TAOK2	16	29994521	Silent	SNP	C	TCGA-61-1900-01A-01W-0639-09	28105258	29994521	60360232	66	23769											
PSMD7	5713	genome.wustl.edu	37	16	74336158	74336158	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr16:74336158G>A	ENST00000219313.4	+	5	546	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000540379.1_Missense_Mutation_p.E59K|AC009120.6_ENST00000565313.1_RNA|PSMD7_ENST00000567958.1_Missense_Mutation_p.E136K|PSMD7_ENST00000568615.2_Missense_Mutation_p.E136K	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	136					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						GCTGCCTACAGAAGCGTACAT	0.453																																																0			16											168	149	155					16																	74336158		2198	4300	6498	72893659	SO:0001583	missense	5713			D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"Proteasome (prosome, macropain) subunits"	9565	protein-coding gene	gene with protein product	"Mov34 homolog"	157970	"proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.406G>A	16.37:g.74336158G>A	ENSP00000219313:p.Glu136Lys		72893659	D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413558	0.62511	.	.	ENSG00000103035	ENST00000219313;ENST00000540379	T;T	0.39592	1.07;1.09	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	L	0.43152	1.355	0.80722	D	1	B	0.18461	0.028	B	0.18871	0.023	T	0.11372	-1.0590	10	0.23891	T	0.37	-0.1991	20.8598	0.99761	0.0:0.0:1.0:0.0	.	136	P51665	PSD7_HUMAN	K	136;59	ENSP00000219313:E136K;ENSP00000443925:E59K	ENSP00000219313:E136K	E	+	1	0	PSMD7	72893659	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	GAA		0.453	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		A	74336158	G	A	74336158	3	1	431	1	0	0	0	0	1	0	0	0	12706	943	33	2	424	2	PSMD7	16	74336158	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	44341637	74336158	16018595	67	23770											
TP53	7157	genome.wustl.edu	37	17	7579321	7579322	+	Frame_Shift_Del	DEL	CA	CA	-	rs587780067		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CA	CA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:7579321_7579322delCA	ENST00000269305.4	-	4	554_555	c.365_366delTG	c.(364-366)gtgfs	p.V122fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs	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	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCGTGCAAGTCACAGACTTGGC	0.554		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"	23	Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(2)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)|liver(1)|ovary(1)	17	GRCh37	CM065494	TP53	M																																				7520047	SO:0001589	frameshift_variant	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.365_366delTG	17.37:g.7579323_7579324delCA	ENSP00000269305:p.Val122fs		7520046	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579322	CA	-	7579321	7	5	431	1	0	1	0	1	0	0	0	0	16381	813	29	0	936	0	TP53	17	7579321	Frame_Shift_Del	DEL	CA	TCGA-61-1900-01A-01W-0639-09		7579321	73615889	68	23771											
CHD3	1107	genome.wustl.edu	37	17	7812541	7812541	+	Silent	SNP	C	C	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:7812541C>G	ENST00000330494.7	+	37	5625	c.5475C>G	c.(5473-5475)ccC>ccG	p.P1825P	CHD3_ENST00000358181.4_Silent_p.P1791P|CHD3_ENST00000380358.4_Silent_p.P1884P|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1825	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGGCGCACCCCGCCATGGCCC	0.706																																																0			17											5	5	5					17																	7812541		2049	3992	6041	7753266	SO:0001819	synonymous_variant	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5475C>G	17.37:g.7812541C>G			7753266	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	CCDS32554.1																																																																																				0.706	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		G	7812541	C	G	7812541	2	3	431	1	0	0	0	0	0	0	0	1	3326	639	23	3		3	CHD3	17	7812541	Silent	SNP	C	TCGA-61-1900-01A-01W-0639-09	233220	7812541	73382669	69	23772											
SC65	10609	genome.wustl.edu	37	17	39967250	39967250	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:39967250C>T	ENST00000355468.3	-	4	1118	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	FKBP10_ENST00000321562.4_5'Flank|LEPREL4_ENST00000393928.1_Missense_Mutation_p.G218R			Q92791	SC65_HUMAN	leprecan-like 4	218					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CGGAAATCCCCGCTGTTGTAG	0.657																																																0			17											47	47	47					17																	39967250		2203	4300	6503	37220776	SO:0001583	missense	10609			BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"nucleolar autoantigen (55kD)", "rat synaptonemal complex protein"			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.652G>A	17.37:g.39967250C>T	ENSP00000347649:p.Gly218Arg		37220776	Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476372	0.96291	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.79247	-1.25;-1.25	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);	0.049421	0.85682	D	0.000000	D	0.87172	0.6111	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.977	D	0.86492	0.1798	10	0.48119	T	0.1	-42.647	18.3669	0.90394	0.0:1.0:0.0:0.0	.	207;218	B4DVZ5;Q92791	.;SC65_HUMAN	R	218;218;207	ENSP00000347649:G218R;ENSP00000377505:G218R	ENSP00000347649:G218R	G	-	1	0	LEPREL4	37220776	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.589000	0.82641	2.671000	0.90904	0.655000	0.94253	GGG		0.657	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			T	39967250	C	T	39967250	3	4	431	1	0	0	0	0	1	0	0	0	13870	652	23	1	685	1	SC65	17	39967250	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	32154709	39967250	41227960	70	23773											
RPS6KB1	6198	genome.wustl.edu	37	17	57970680	57970680	+	Silent	SNP	G	G	A	rs56376112	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:57970680G>A	ENST00000225577.4	+	1	156	c.135G>A	c.(133-135)gaG>gaA	p.E45E	RPS6KB1_ENST00000406116.3_Silent_p.E45E|TUBD1_ENST00000340993.6_5'Flank|TUBD1_ENST00000592426.1_5'Flank|TUBD1_ENST00000539018.1_5'Flank|TUBD1_ENST00000346141.6_5'Flank|TUBD1_ENST00000376094.4_5'Flank|RPS6KB1_ENST00000443572.2_Silent_p.E45E|TUBD1_ENST00000394239.3_5'Flank|TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000325752.3_5'Flank|RPS6KB1_ENST00000393021.3_5'UTR	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	45					aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ATGAGCTGGAGGAGGGGGTGA	0.697													G|||	30	0.00599042	0.0197	0.0058	5008	,	,		13939	0		0	False		,,,				2504	0															0			17						G		107,4287		3,101,2093	15	17	16		135	4.5	1	17	dbSNP_129	16	1,8595		0,1,4297	no	coding-synonymous	RPS6KB1	NM_003161.2		3,102,6390	AA,AG,GG		0.0116,2.4351,0.8314		45/526	57970680	108,12882	2197	4298	6495	55325462	SO:0001819	synonymous_variant	6198			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"ribosomal protein S6 kinase, 70kD, polypeptide 1"	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.135G>A	17.37:g.57970680G>A			55325462	B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Silent	SNP	ENST00000225577.4	37	CCDS11621.1																																																																																				0.697	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		A	57970680	G	A	57970680	2	1	431	1	0	0	0	0	0	0	0	1	13659	991	35	2		2	RPS6KB1	17	57970680	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09	18003430	57970680	23224530	71	23774											
TTYH2	94015	genome.wustl.edu	37	17	72239609	72239609	+	Splice_Site	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:72239609G>C	ENST00000269346.4	+	5	805		c.e5+1		TTYH2_ENST00000534346.1_Splice_Site|TTYH2_ENST00000529107.1_Splice_Site	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2							chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCCTGGCCTCGTGAGTATCCC	0.597																																																0			17											135	113	120					17																	72239609		2203	4300	6503	69751204	SO:0001630	splice_region_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.731+1G>C	17.37:g.72239609G>C			69751204	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Splice_Site	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205490	0.79127	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7025	0.91626	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTYH2	69751204	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.155000	0.94700	2.518000	0.84900	0.563000	0.77884	.		0.597	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1		Intron	C	72239609	G	C	72239609	5	2	431	1	0	0	0	0	0	0	1	0	16740	1159	40	3	750	3	TTYH2	17	72239609	Splice_Site	SNP	G	TCGA-61-1900-01A-01W-0639-09	14268929	72239609	8955601	72	23775											
FASN	2194	genome.wustl.edu	37	17	80041397	80041397	+	Silent	SNP	C	C	T	rs115708196	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:80041397C>T	ENST00000306749.2	-	31	5555	c.5337G>A	c.(5335-5337)ccG>ccA	p.P1779P	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1779	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCTCACCGAGCGGGTGGTTCT	0.657													.|||	27	0.00539137	0.0182	0.0043	5008	,	,		15980	0		0	False		,,,				2504	0				Colon(59;314 1043 11189 28578 32273)											0			17						T		69,4325	805.3+/-415.8	1,67,2129	46	48	48		5337	-9.5	0	17	dbSNP_132	48	2,8588	813.1+/-407.0	0,2,4293	no	coding-synonymous	FASN	NM_004104.4		1,69,6422	TT,TC,CC		0.0233,1.5703,0.5468		1779/2512	80041397	71,12913	2197	4295	6492	77634686	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5337G>A	17.37:g.80041397C>T			77634686	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																				0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		T	80041397	C	T	80041397	2	4	431	1	0	0	0	0	0	0	0	1	5683	755	27	1		1	FASN	17	80041397	Silent	SNP	C	TCGA-61-1900-01A-01W-0639-09	7801788	80041397	1153813	73	23776											
SETBP1	26040	genome.wustl.edu	37	18	42281420	42281420	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr18:42281420C>A	ENST00000282030.5	+	2	405	c.109C>A	c.(109-111)Cct>Act	p.P37T	SETBP1_ENST00000426838.4_Missense_Mutation_p.P37T	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	37						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCAGGAGAACCTTTGCTCTC	0.637									Schinzel-Giedion syndrome																																							0			18											25	29	28					18																	42281420		692	1591	2283	40535418	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.109C>A	18.37:g.42281420C>A	ENSP00000282030:p.Pro37Thr		40535418	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	0.461	-0.889285	0.02511	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.67345	-0.26	5.7	-0.107	0.13592	.	.	.	.	.	T	0.28400	0.0702	N	0.02011	-0.69	0.09310	N	1	B;B	0.17667	0.0;0.023	B;B	0.12156	0.0;0.007	T	0.30563	-0.9974	9	0.02654	T	1	.	3.0468	0.06157	0.443:0.3183:0.0931:0.1457	.	37;37	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	T	37	ENSP00000282030:P37T	ENSP00000282030:P37T	P	+	1	0	SETBP1	40535418	1.000000	0.71417	0.942000	0.38095	0.787000	0.44495	2.188000	0.42612	0.031000	0.15407	-0.282000	0.10007	CCT		0.637	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		A	42281420	C	A	42281420	3	1	431	1	0	0	0	0	1	0	0	0	14132	507	18	3	111	3	SETBP1	18	42281420	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09		42281420	35795828	74	23777											
CDH20	28316	genome.wustl.edu	37	18	59158015	59158015	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr18:59158015C>A	ENST00000262717.4	+	2	627	c.229C>A	c.(229-231)Cct>Act	p.P77T	CDH20_ENST00000538374.1_Missense_Mutation_p.P77T|CDH20_ENST00000536675.2_Missense_Mutation_p.P77T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGGGACCGACCCTTTGTATGT	0.453																																																0			18											120	121	120					18																	59158015		2203	4300	6503	57308995	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.229C>A	18.37:g.59158015C>A	ENSP00000262717:p.Pro77Thr		57308995	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416893	0.62511	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.00745	5.75;5.75;5.75	5.06	5.06	0.68205	Cadherin (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.04634	0.0126	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.44003	-0.9356	10	0.49607	T	0.09	.	18.7888	0.91965	0.0:1.0:0.0:0.0	.	77	Q9HBT6	CAD20_HUMAN	T	77	ENSP00000444767:P77T;ENSP00000442226:P77T;ENSP00000262717:P77T	ENSP00000262717:P77T	P	+	1	0	CDH20	57308995	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.226000	0.78060	2.505000	0.84491	0.557000	0.71058	CCT		0.453	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		A	59158015	C	A	59158015	3	1	431	1	0	0	0	0	1	0	0	0	3106	623	22	3	231	3	CDH20	18	59158015	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	16876595	59158015	18919233	75	23778											
HNRNPL	3191	genome.wustl.edu	37	19	39327371	39327371	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr19:39327371G>A	ENST00000221419.5	-	13	2127	c.1761C>T	c.(1759-1761)caC>caT	p.H587H	HNRNPL_ENST00000600873.1_Silent_p.H454H|AC104534.3_ENST00000594769.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	587					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ATTAGGAGGCGTGCTGAGCAG	0.448																																																0			19											195	179	184					19																	39327371		2203	4300	6503	44019211	SO:0001819	synonymous_variant	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1761C>T	19.37:g.39327371G>A			44019211	A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	CCDS33015.1																																																																																				0.448	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			A	39327371	G	A	39327371	2	1	431	1	0	0	0	0	0	0	0	1	7270	1136	40	1		1	HNRNPL	19	39327371	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09		39327371	19801612	76	23779											
USP29	57663	genome.wustl.edu	37	19	57641099	57641099	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr19:57641099G>A	ENST00000254181.4	+	4	1510	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G	USP29_ENST00000598197.1_Silent_p.G352G	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	352	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATTACTTGGGAATGTTAAAA	0.378																																																0			19											61	64	63					19																	57641099		2203	4300	6503	62332911	SO:0001819	synonymous_variant	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1056G>A	19.37:g.57641099G>A			62332911		Silent	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																				0.378	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			A	57641099	G	A	57641099	2	1	431	1	0	0	0	0	0	0	0	1	17059	1161	41	2		2	USP29	19	57641099	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09	18313728	57641099	1487884	77	23780											
CD93	22918	genome.wustl.edu	37	20	23066492	23066492	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr20:23066492C>A	ENST00000246006.4	-	1	485	c.338G>T	c.(337-339)gGc>gTc	p.G113V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGCTGAAGCCCTTCAGCGG	0.632																																																0			20											17	16	17					20																	23066492		2199	4291	6490	23014492	SO:0001583	missense	22918			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.338G>T	20.37:g.23066492C>A	ENSP00000246006:p.Gly113Val		23014492	O00274	Missense_Mutation	SNP	ENST00000246006.4	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776171	0.90195	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.18016	2.24	5.49	5.49	0.81192	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000012	T	0.47266	0.1436	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48186	-0.9057	10	0.87932	D	0	-46.8945	18.7151	0.91672	0.0:1.0:0.0:0.0	.	113	Q9NPY3	C1QR1_HUMAN	V	113	ENSP00000246006:G113V	ENSP00000246006:G113V	G	-	2	0	CD93	23014492	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.244000	0.65400	2.718000	0.92993	0.655000	0.94253	GGC		0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		A	23066492	C	A	23066492	3	1	431	1	0	0	0	0	1	0	0	0	3047	739	26	3	1628	3	CD93	20	23066492	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09		23066492	39959028	78	23781											
SERINC3	10955	genome.wustl.edu	37	20	43132514	43132514	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr20:43132514G>A	ENST00000342374.4	-	8	1154	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L	SERINC3_ENST00000255175.1_Silent_p.L333L|SERINC3_ENST00000541235.1_Silent_p.L278L	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	333					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TCTGAATCCAGTAAAGACCCA	0.418																																																0			20											113	118	116					20																	43132514		2203	4300	6503	42565928	SO:0001819	synonymous_variant	10955			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.997C>T	20.37:g.43132514G>A			42565928	B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	37	CCDS13333.1																																																																																				0.418	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		A	43132514	G	A	43132514	2	1	431	1	0	0	0	0	0	0	0	1	14084	1020	36	2		2	SERINC3	20	43132514	Silent	SNP	G	TCGA-61-1900-01A-01W-0639-09	20066022	43132514	19893006	79	23782											
RNF160	26046	genome.wustl.edu	37	21	30331873	30331873	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr21:30331873C>T	ENST00000361371.5	-	13	2579	c.2500G>A	c.(2500-2502)Gcg>Acg	p.A834T	LTN1_ENST00000389194.2_Missense_Mutation_p.A880T			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	834					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CATCCTTTCGCTGAGCTGAAA	0.353																																																0			21											100	95	97					21																	30331873		2203	4300	6503	29253744	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2500G>A	21.37:g.30331873C>T	ENSP00000354977:p.Ala834Thr		29253744	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	15.14	2.745711	0.49151	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.18016	2.24;2.25	5.55	3.71	0.42584	.	0.062767	0.64402	D	0.000006	T	0.07773	0.0195	N	0.08118	0	0.28537	N	0.912288	B	0.23937	0.094	B	0.24541	0.054	T	0.29397	-1.0013	10	0.11794	T	0.64	.	10.1733	0.42924	0.0:0.7933:0.0:0.2067	.	834	O94822	LTN1_HUMAN	T	880;834	ENSP00000373846:A880T;ENSP00000354977:A834T	ENSP00000354977:A834T	A	-	1	0	LTN1	29253744	0.989000	0.36119	0.908000	0.35775	0.954000	0.61252	1.600000	0.36762	1.578000	0.49821	0.655000	0.94253	GCG		0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		T	30331873	C	T	30331873	3	4	431	1	0	0	0	0	1	0	0	0	13458	797	28	2	2872	2	RNF160	21	30331873	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09		30331873	17798022	80	23783											
SYNJ1	8867	genome.wustl.edu	37	21	34038326	34038326	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr21:34038326G>A	ENST00000322229.7	-	16	2071	c.2072C>T	c.(2071-2073)gCt>gTt	p.A691V	SYNJ1_ENST00000382499.2_Missense_Mutation_p.A730V|SYNJ1_ENST00000357345.3_Missense_Mutation_p.A691V|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A730V|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A686V			O43426	SYNJ1_HUMAN	synaptojanin 1	691	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTGCCCTGCAGCAAAGTGGCT	0.433																																																0			21											79	63	69					21																	34038326		2203	4300	6503	32960197	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2072C>T	21.37:g.34038326G>A	ENSP00000322234:p.Ala691Val		32960197	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	35	5.505322	0.96371	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	6.04	5.14	0.70334	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.202033	0.51477	D	0.000091	D	0.91656	0.7363	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;1.0;0.996;0.998	D	0.93469	0.6817	10	0.87932	D	0	.	17.1494	0.86774	0.0:0.1264:0.8736:0.0	.	686;730;691;691;691	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	V	686;691;730;730;691;686	ENSP00000371931:A686V;ENSP00000349903:A691V;ENSP00000371939:A730V;ENSP00000409667:A730V;ENSP00000322234:A691V;ENSP00000413649:A686V	ENSP00000322234:A691V	A	-	2	0	SYNJ1	32960197	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	1.527000	0.49086	0.561000	0.74099	GCT		0.433	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	34038326	G	A	34038326	3	1	431	1	0	0	0	0	1	0	0	0	15452	971	34	2	2738	2	SYNJ1	21	34038326	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	3706453	34038326	14091569	81	23784											
SFI1	9814	genome.wustl.edu	37	22	32007135	32007135	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr22:32007135T>C	ENST00000400288.2	+	23	2366	c.2261T>C	c.(2260-2262)cTg>cCg	p.L754P	SFI1_ENST00000443011.1_Missense_Mutation_p.L601P|SFI1_ENST00000400289.1_Missense_Mutation_p.L672P|SFI1_ENST00000414585.1_Missense_Mutation_p.L601P|SFI1_ENST00000443326.1_Missense_Mutation_p.L672P|SFI1_ENST00000540643.1_Missense_Mutation_p.L699P|SFI1_ENST00000432498.1_Missense_Mutation_p.L723P	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	754					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTAGGCTGTCTGCGGACCTGG	0.577																																																0			22											80	85	84					22																	32007135		2163	4272	6435	30337135	SO:0001583	missense	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2261T>C	22.37:g.32007135T>C	ENSP00000383145:p.Leu754Pro		30337135	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924613	0.52653	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.32515	1.92;1.92;1.84;1.83;2.03;1.84;2.0;1.45	5.41	5.41	0.78517	.	0.140206	0.47455	D	0.000236	T	0.34919	0.0914	N	0.08118	0	0.36008	D	0.837854	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.986;0.961;0.996;0.982;0.999	T	0.53975	-0.8362	10	0.87932	D	0	.	12.8054	0.57610	0.0:0.0:0.0:1.0	.	699;660;672;723;754	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	P	723;699;672;601;601;672;754;337	ENSP00000402679:L723P;ENSP00000443025:L699P;ENSP00000416469:L672P;ENSP00000397148:L601P;ENSP00000401199:L601P;ENSP00000383146:L672P;ENSP00000383145:L754P;ENSP00000398871:L337P	ENSP00000383145:L754P	L	+	2	0	SFI1	30337135	0.189000	0.23263	0.475000	0.27278	0.592000	0.36648	4.091000	0.57700	2.055000	0.61198	0.459000	0.35465	CTG		0.577	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		C	32007135	T	C	32007135	3	2	431	1	0	0	0	0	1	0	0	0	14159	1580	55	4	2347	4	SFI1	22	32007135	Missense_Mutation	SNP	T	TCGA-61-1900-01A-01W-0639-09		32007135	19297431	82	23785											
RFPL3	10738	genome.wustl.edu	37	22	32756391	32756391	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr22:32756391A>C	ENST00000249007.4	+	2	731	c.526A>C	c.(526-528)Acc>Ccc	p.T176P	RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Missense_Mutation_p.T147P|RFPL3_ENST00000382088.3_Missense_Mutation_p.T147P|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	176	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCCTCGCTTTACCTGTGGCCG	0.572																																																0			22											78	78	78					22																	32756391		2203	4298	6501	31086391	SO:0001583	missense	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.526A>C	22.37:g.32756391A>C	ENSP00000249007:p.Thr176Pro		31086391	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	A	9.499	1.102775	0.20632	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.63744	-0.06;-0.06;-0.06	0.664	0.664	0.17890	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.63094	0.2482	M	0.85710	2.77	0.80722	D	1	B	0.33583	0.418	B	0.37692	0.256	T	0.63673	-0.6584	9	0.66056	D	0.02	.	5.5845	0.17267	0.9999:0.0:1.0E-4:0.0	.	176	O75679	RFPL3_HUMAN	P	147;176;147	ENSP00000380609:T147P;ENSP00000249007:T176P;ENSP00000371520:T147P	ENSP00000249007:T176P	T	+	1	0	RFPL3	31086391	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-1.429000	0.02437	0.523000	0.28482	0.163000	0.16589	ACC		0.572	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		C	32756391	A	C	32756391	3	2	431	1	0	0	0	0	1	0	0	0	13258	391	14	5	532	5	RFPL3	22	32756391	Missense_Mutation	SNP	A	TCGA-61-1900-01A-01W-0639-09	749256	32756391	18548175	83	23786											
CSF2RB	1439	genome.wustl.edu	37	22	37334245	37334245	+	Missense_Mutation	SNP	C	C	G	rs544020050	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr22:37334245C>G	ENST00000403662.3	+	14	2617	c.2395C>G	c.(2395-2397)Cgc>Ggc	p.R799G	CSF2RB_ENST00000406230.1_Missense_Mutation_p.R805G|CSF2RB_ENST00000536485.1_Missense_Mutation_p.R746G|CSF2RB_ENST00000262825.5_Missense_Mutation_p.R805G			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	799					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCAGGGGAACGCCCGGCAGA	0.657																																																0			22											62	65	64					22																	37334245		2203	4300	6503	35664191	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2395C>G	22.37:g.37334245C>G	ENSP00000384053:p.Arg799Gly		35664191	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348398	0.24426	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91631	-2.36;-2.87;-2.87;-2.88	5.21	0.302	0.15786	.	0.870917	0.09707	N	0.766211	T	0.80144	0.4569	N	0.08118	0	0.09310	N	1	B;B	0.19583	0.037;0.022	B;B	0.19391	0.025;0.011	T	0.68243	-0.5460	10	0.34782	T	0.22	-7.4368	4.2312	0.10604	0.1483:0.4755:0.2892:0.0869	.	805;799	P32927-2;P32927	.;IL3RB_HUMAN	G	799;799;805;805;746	ENSP00000384053:R799G;ENSP00000262825:R805G;ENSP00000385271:R805G;ENSP00000440003:R746G	ENSP00000262825:R805G	R	+	1	0	CSF2RB	35664191	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.226000	0.17776	0.538000	0.28769	0.400000	0.26472	CGC		0.657	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		G	37334245	C	G	37334245	3	3	431	1	0	0	0	0	1	0	0	0	3935	536	19	3	2445	3	CSF2RB	22	37334245	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	4577854	37334245	13970321	84	23787											
USP9X	8239	genome.wustl.edu	37	X	41000577	41000577	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:41000577A>G	ENST00000324545.8	+	9	1687	c.1054A>G	c.(1054-1056)Atg>Gtg	p.M352V	USP9X_ENST00000378308.2_Missense_Mutation_p.M352V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	352					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAATGGAAAGATGAATGCACT	0.338																																					Ovarian(172;1807 2695 35459 49286)											0			X											71	64	67					X																	41000577		2141	4270	6411	40885521	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1054A>G	X.37:g.41000577A>G	ENSP00000316357:p.Met352Val		40885521	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846746	0.71603	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.76186	-1.0;-1.0	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	D	0.83497	0.0073	10	0.17369	T	0.5	.	15.0823	0.72125	1.0:0.0:0.0:0.0	.	352;352	Q93008-1;Q93008	.;USP9X_HUMAN	V	352	ENSP00000367558:M352V;ENSP00000316357:M352V	ENSP00000316357:M352V	M	+	1	0	USP9X	40885521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.962000	0.93254	1.944000	0.56390	0.486000	0.48141	ATG		0.338	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	41000577	A	G	41000577	3	3	431	1	0	0	0	0	1	0	0	0	17090	333	12	4	1084	4	USP9X	23	41000577	Missense_Mutation	SNP	A	TCGA-61-1900-01A-01W-0639-09		41000577	114269983	85	23788											
HUWE1	10075	genome.wustl.edu	37	X	53578127	53578127	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:53578127C>A	ENST00000342160.3	-	64	9577	c.9120G>T	c.(9118-9120)gaG>gaT	p.E3040D	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3040D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3040					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCGCTGCTGCTCAGCTCTCT	0.577																																																0			X											94	82	86					X																	53578127		2203	4300	6503	53594852	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9120G>T	X.37:g.53578127C>A	ENSP00000340648:p.Glu3040Asp		53594852	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.22|14.22	2.470911|2.470911	0.43942|0.43942	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.49720	.|0.77;0.77	5.88|5.88	2.2|2.2	0.27929|0.27929	.|.	.|0.127856	.|0.51477	.|D	.|0.000089	T|T	0.57242|0.57242	0.2040|0.2040	L|L	0.58810|0.58810	1.83|1.83	0.49299|0.49299	D|D	0.99977|0.99977	.|D;D	.|0.57257	.|0.979;0.974	.|D;D	.|0.74023	.|0.982;0.969	T|T	0.50338|0.50338	-0.8840|-0.8840	5|10	.|0.30854	.|T	.|0.27	.|.	7.2918|7.2918	0.26370|0.26370	0.0:0.4754:0.0:0.5246|0.0:0.4754:0.0:0.5246	.|.	.|3040;3024	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	S|D	2074|3040	.|ENSP00000340648:E3040D;ENSP00000262854:E3040D	.|ENSP00000262854:E3040D	A|E	-|-	1|3	0|2	HUWE1|HUWE1	53594852|53594852	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.518000|0.518000	0.22847|0.22847	0.256000|0.256000	0.21614|0.21614	0.600000|0.600000	0.82982|0.82982	GCA|GAG		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53578127	C	A	53578127	3	1	431	1	0	0	0	0	1	0	0	0	7461	796	28	3	4084	3	HUWE1	23	53578127	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	12577550	53578127	101692433	86	23789											
HUWE1	10075	genome.wustl.edu	37	X	53672376	53672376	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:53672376C>A	ENST00000342160.3	-	6	848	c.391G>T	c.(391-393)Gtg>Ttg	p.V131L	HUWE1_ENST00000262854.6_Missense_Mutation_p.V131L|HUWE1_ENST00000218328.8_Missense_Mutation_p.V131L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	131					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTGCCAGCACCACTTGCATA	0.443																																																0			X											85	67	73					X																	53672376		2203	4300	6503	53689101	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.391G>T	X.37:g.53672376C>A	ENSP00000340648:p.Val131Leu		53689101	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734568	0.69189	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.65916	-0.1;-0.1;-0.18	5.23	5.23	0.72850	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.178859	0.35349	N	0.003271	T	0.54695	0.1874	N	0.26092	0.79	0.54753	D	0.999984	P	0.38729	0.644	B	0.41271	0.352	T	0.57757	-0.7756	10	0.45353	T	0.12	.	16.5667	0.84600	0.0:1.0:0.0:0.0	.	131	Q7Z6Z7	HUWE1_HUMAN	L	131	ENSP00000340648:V131L;ENSP00000262854:V131L;ENSP00000218328:V131L	ENSP00000218328:V131L	V	-	1	0	HUWE1	53689101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.847000	0.75404	2.167000	0.68274	0.600000	0.82982	GTG		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53672376	C	A	53672376	3	1	431	1	0	0	0	0	1	0	0	0	7461	507	18	3	13045	3	HUWE1	23	53672376	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	94249	53672376	101598184	87	23790											
LAS1L	81887	genome.wustl.edu	37	X	64749716	64749716	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:64749716C>G	ENST00000374811.3	-	5	597	c.557G>C	c.(556-558)tGc>tCc	p.C186S	LAS1L_ENST00000374804.5_Missense_Mutation_p.C144S|LAS1L_ENST00000374807.5_Missense_Mutation_p.C186S|LAS1L_ENST00000312391.8_Missense_Mutation_p.C186S	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	186					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)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CAGTTGGCGGCACCAATAGGT	0.547																																																0			X											94	83	87					X																	64749716		2203	4300	6503	64666441	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.557G>C	X.37:g.64749716C>G	ENSP00000363944:p.Cys186Ser		64666441	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968177	0.34754	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.92	5.06	0.68205	.	0.155345	0.64402	N	0.000012	T	0.14960	0.0361	N	0.02275	-0.615	0.26788	N	0.969467	B;B;B	0.28713	0.141;0.22;0.013	B;B;B	0.30495	0.041;0.116;0.009	T	0.23476	-1.0187	9	0.08179	T	0.78	.	11.957	0.52986	0.0:0.8303:0.1697:0.0	.	144;186;186	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	S	186;186;144;186	.	ENSP00000308649:C186S	C	-	2	0	LAS1L	64666441	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.148000	0.42235	1.235000	0.43724	0.600000	0.82982	TGC		0.547	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		G	64749716	C	G	64749716	3	3	431	1	0	0	0	0	1	0	0	0	8636	710	25	3	1687	3	LAS1L	23	64749716	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	11077340	64749716	90520844	88	23791											
NONO	4841	genome.wustl.edu	37	X	70519852	70519852	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:70519852G>T	ENST00000276079.8	+	12	1547	c.1342G>T	c.(1342-1344)Ggt>Tgt	p.G448C	NONO_ENST00000535149.1_Missense_Mutation_p.G359C|NONO_ENST00000373841.1_Missense_Mutation_p.G448C|ITGB1BP2_ENST00000538820.1_5'Flank|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.G448C|ITGB1BP2_ENST00000373829.3_5'Flank	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	448					circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGGGGCAATTGGTGGAACTCC	0.468			T	TFE3	papillary renal cancer																																		Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	0			X											119	100	106					X																	70519852		2203	4300	6503	70436577	SO:0001583	missense	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1342G>T	X.37:g.70519852G>T	ENSP00000276079:p.Gly448Cys		70436577	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	N	18.06	3.540356	0.65085	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.25749	1.86;1.78;1.78;1.78	5.06	4.18	0.49190	.	0.159230	0.56097	D	0.000031	T	0.46502	0.1396	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	P	0.61800	0.894	T	0.50541	-0.8816	10	0.72032	D	0.01	-7.0099	14.0254	0.64582	0.0:0.0:0.8481:0.1519	.	448	Q15233	NONO_HUMAN	C	359;448;448;448	ENSP00000441364:G359C;ENSP00000276079:G448C;ENSP00000362963:G448C;ENSP00000362947:G448C	ENSP00000276079:G448C	G	+	1	0	NONO	70436577	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.472000	0.73567	1.092000	0.41356	0.529000	0.55759	GGT		0.468	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		T	70519852	G	T	70519852	3	4	431	1	0	0	0	0	1	0	0	0	10534	1348	47	3	1380	3	NONO	23	70519852	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	5770136	70519852	84750708	89	23792											
BCORL1	63035	genome.wustl.edu	37	X	129147721	129147721	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:129147721G>T	ENST00000218147.7	+	4	1170	c.973G>T	c.(973-975)Gct>Tct	p.A325S	BCORL1_ENST00000303743.5_Missense_Mutation_p.A325S|BCORL1_ENST00000540052.1_Missense_Mutation_p.A325S|BCORL1_ENST00000359304.2_Missense_Mutation_p.A325S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	325	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						gcccccttcagctccgacctt	0.667																																																0			X											54	51	52					X																	129147721		2186	4260	6446	128975402	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.973G>T	X.37:g.129147721G>T	ENSP00000218147:p.Ala325Ser		128975402	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352826	0.41700	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.44482	0.93;1.3;0.92;0.93	3.79	3.79	0.43588	.	0.000000	0.33364	N	0.004989	T	0.34019	0.0883	N	0.08118	0	0.09310	N	0.999998	D;D	0.61697	0.99;0.982	P;P	0.53146	0.719;0.528	T	0.24404	-1.0161	9	.	.	.	-10.3461	15.561	0.76244	0.0:0.0:1.0:0.0	.	325;325	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	S	325	ENSP00000218147:A325S;ENSP00000307541:A325S;ENSP00000352253:A325S;ENSP00000437775:A325S	.	A	+	1	0	BCORL1	128975402	0.614000	0.27017	0.678000	0.29963	0.770000	0.43624	2.841000	0.48223	2.145000	0.66743	0.529000	0.55759	GCT		0.667	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129147721	G	T	129147721	3	4	431	1	0	0	0	0	1	0	0	0	1387	971	34	3	983	3	BCORL1	23	129147721	Missense_Mutation	SNP	G	TCGA-61-1900-01A-01W-0639-09	58627869	129147721	26122839	90	23793											
PASD1	139135	genome.wustl.edu	37	X	150840811	150840811	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:150840811C>A	ENST00000370357.4	+	14	1839	c.1594C>A	c.(1594-1596)Ctg>Atg	p.L532M		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	532	Lys-rich.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					gaagaagaagctgcaggagca	0.532													C|||	1	0.000264901	0	0	3775	,	,		15139	0.001		0	False		,,,				2504	0															0			X											42	44	43					X																	150840811		2192	4274	6466	150591467	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1594C>A	X.37:g.150840811C>A	ENSP00000359382:p.Leu532Met		150591467	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	7.315	0.615814	0.14129	.	.	ENSG00000166049	ENST00000370357	T	0.69040	-0.37	1.29	1.29	0.21616	.	.	.	.	.	T	0.47857	0.1468	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	P	0.47786	0.557	T	0.37478	-0.9704	9	0.66056	D	0.02	.	5.5087	0.16868	0.0:1.0:0.0:0.0	.	532	Q8IV76	PASD1_HUMAN	M	532	ENSP00000359382:L532M	ENSP00000359382:L532M	L	+	1	2	PASD1	150591467	0.001000	0.12720	0.002000	0.10522	0.060000	0.15804	0.290000	0.18975	0.921000	0.36994	0.284000	0.19432	CTG		0.532	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		A	150840811	C	A	150840811	3	1	431	1	0	0	0	0	1	0	0	0	11471	796	28	3	1644	3	PASD1	23	150840811	Missense_Mutation	SNP	C	TCGA-61-1900-01A-01W-0639-09	21693090	150840811	4429749	91	23794											
USP33	23032	genome.wustl.edu	37	1	78200077	78200077	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr1:78200077C>A	ENST00000370793.1	-	8	918	c.572G>T	c.(571-573)gGa>gTa	p.G191V	USP33_ENST00000357428.1_Missense_Mutation_p.G191V|USP33_ENST00000370794.3_Missense_Mutation_p.G160V|USP33_ENST00000370792.3_Missense_Mutation_p.G191V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	191	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACAAGTATTTCCAATATTTTT	0.254																																					Melanoma(152;72 1870 11110 26780 42647)											0			1											31	31	31					1																	78200077		2201	4291	6492	77972665	SO:0001583	missense	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.572G>T	1.37:g.78200077C>A	ENSP00000359829:p.Gly191Val		77972665	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365007	0.82463	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	4.55	4.55	0.56014	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86723	0.1943	10	0.87932	D	0	.	17.6748	0.88227	0.0:1.0:0.0:0.0	.	191;191	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	V	160;191;191;191;191	ENSP00000359830:G160V;ENSP00000359829:G191V;ENSP00000350009:G191V;ENSP00000359828:G191V;ENSP00000434441:G191V	ENSP00000350009:G191V	G	-	2	0	USP33	77972665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.261000	0.74972	0.585000	0.79938	GGA		0.254	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		A	78200077	C	A	78200077	3	1	432	1	0	0	0	0	1	0	0	0	17064	855	30	3	2340	3	USP33	1	78200077	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09		78200077	171050544	1	23795											
AMPD2	271	genome.wustl.edu	37	1	110170747	110170747	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr1:110170747C>T	ENST00000256578.3	+	10	1645	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	AMPD2_ENST00000528454.1_Missense_Mutation_p.H311Y|AMPD2_ENST00000358729.4_Missense_Mutation_p.H354Y|AMPD2_ENST00000393688.3_Missense_Mutation_p.H310Y|AMPD2_ENST00000342115.4_Missense_Mutation_p.H348Y|AMPD2_ENST00000528667.1_Missense_Mutation_p.H429Y|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	429					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAACCAGAAGCATCTGCTGCG	0.612																																																0			1											71	68	69					1																	110170747		2203	4300	6503	109972270	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1285C>T	1.37:g.110170747C>T	ENSP00000256578:p.His429Tyr		109972270	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.928542|4.928542	0.92389|0.92389	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.91068	.|-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Adenosine/AMP deaminase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96147|0.96147	0.8744|0.8744	M|M	0.93106|0.93106	3.38|3.38	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;1.0;0.999;1.0	.|D;D;D;D	.|0.73380	.|0.976;0.98;0.976;0.98	D|D	0.96776|0.96776	0.9572|0.9572	5|10	.|0.87932	.|D	.|0	-27.4976|-27.4976	17.3138|17.3138	0.87217|0.87217	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|354;310;429;348	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	V|Y	399|348;429;429;354;311;310	.|ENSP00000345498:H348Y;ENSP00000436541:H429Y;ENSP00000256578:H429Y;ENSP00000351573:H354Y;ENSP00000437164:H311Y;ENSP00000377292:H310Y	.|ENSP00000256578:H429Y	A|H	+|+	2|1	0|0	AMPD2|AMPD2	109972270|109972270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.577000|7.577000	0.82486|0.82486	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GCA|CAT		0.612	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			T	110170747	C	T	110170747	3	4	432	1	0	0	0	0	1	0	0	0	586	710	25	2	1364	2	AMPD2	1	110170747	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09	31970670	110170747	139079874	2	23796											
LRRC52	440699	genome.wustl.edu	37	1	165532890	165532890	+	Silent	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr1:165532890C>T	ENST00000294818.1	+	2	1061	c.771C>T	c.(769-771)gcC>gcT	p.A257A	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	257					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCATCTTCGCCGCGGGAACTG	0.587																																																0			1											63	52	56					1																	165532890		2203	4300	6503	163799514	SO:0001819	synonymous_variant	440699			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.771C>T	1.37:g.165532890C>T			163799514	A2RUN7|Q5T9K5	Silent	SNP	ENST00000294818.1	37	CCDS30930.1																																																																																				0.587	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		T	165532890	C	T	165532890	2	4	432	1	0	0	0	0	0	0	0	1	9010	639	23	1		1	LRRC52	1	165532890	Silent	SNP	C	TCGA-61-1901-01A-01W-0639-09	55362143	165532890	83717731	3	23797											
TLR5	7100	genome.wustl.edu	37	1	223285575	223285575	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr1:223285575C>T	ENST00000540964.1	-	4	1260	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	TLR5_ENST00000342210.6_Missense_Mutation_p.A267T			O60602	TLR5_HUMAN	toll-like receptor 5	267					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCAAACCCGGCACCCATGATG	0.488																																																0			1											97	87	90					1																	223285575		2203	4300	6503	221352198	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.799G>A	1.37:g.223285575C>T	ENSP00000440643:p.Ala267Thr		221352198	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	9.630	1.136073	0.21123	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.36520	1.25;1.25;1.25	5.27	-6.77	0.01727	.	1.837040	0.02949	N	0.141457	T	0.21801	0.0525	N	0.14661	0.345	0.09310	N	1	B	0.23128	0.08	B	0.28916	0.096	T	0.25537	-1.0129	10	0.31617	T	0.26	.	9.3741	0.38272	0.2758:0.5074:0.2168:0.0	.	267	O60602	TLR5_HUMAN	T	267	ENSP00000440643:A267T;ENSP00000355846:A267T;ENSP00000340089:A267T	ENSP00000340089:A267T	A	-	1	0	TLR5	221352198	0.000000	0.05858	0.006000	0.13384	0.263000	0.26337	-0.543000	0.06084	-0.783000	0.04534	-0.262000	0.10625	GCC		0.488	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		T	223285575	C	T	223285575	3	4	432	1	0	0	0	0	1	0	0	0	15954	710	25	2	1781	2	TLR5	1	223285575	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09	57752685	223285575	25965046	4	23798											
ELMOD3	84173	genome.wustl.edu	37	2	85617887	85617887	+	Silent	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:85617887G>A	ENST00000409890.2	+	14	1615	c.948G>A	c.(946-948)ttG>ttA	p.L316L	ELMOD3_ENST00000315658.7_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.L316L|ELMOD3_ENST00000409013.3_Silent_p.L316L|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Silent_p.L316L			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	316	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TTGCAGAGTTGGAAGTATTGG	0.582																																																0			2											12	16	15					2																	85617887		692	1591	2283	85471398	SO:0001819	synonymous_variant	0			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.948G>A	2.37:g.85617887G>A			85471398	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	ENST00000409890.2	37	CCDS46352.1																																																																																				0.582	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		A	85617887	G	A	85617887	2	1	432	1	0	0	0	0	0	0	0	1	5070	1339	47	2		2	ELMOD3	2	85617887	Silent	SNP	G	TCGA-61-1901-01A-01W-0639-09		85617887	157581486	5	23799											
RGPD4	285190	genome.wustl.edu	37	2	108477648	108477648	+	Splice_Site	SNP	A	A	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:108477648A>G	ENST00000408999.3	+	14	1997		c.e14-1		RGPD4_ENST00000354986.4_Splice_Site	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4						protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGTGTGTTTAGGCATCAGAA	0.303																																																0			2											1	1	1					2																	108477648		2	2	4	107844080	SO:0001630	splice_region_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1921-1A>G	2.37:g.108477648A>G			107844080	B9A029	Splice_Site	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	4.887	0.164785	0.09287	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	.	.	.	2.6	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4763	0.33016	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGPD4	107844080	1.000000	0.71417	0.980000	0.43619	0.274000	0.26718	6.275000	0.72594	1.068000	0.40764	0.128000	0.15822	.		0.303	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581	Intron	G	108477648	A	G	108477648	5	3	432	1	0	0	0	0	0	0	1	0	13291	434	15	4	1973	4	RGPD4	2	108477648	Splice_Site	SNP	A	TCGA-61-1901-01A-01W-0639-09	22859761	108477648	134721725	6	23800											
CNTNAP5	129684	genome.wustl.edu	37	2	125405440	125405440	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:125405440G>A	ENST00000431078.1	+	13	2343	c.1979G>A	c.(1978-1980)aGc>aAc	p.S660N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	660	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACGGGGGCAGCATGGAACAG	0.612																																																0			2											35	39	38					2																	125405440		2098	4210	6308	125121910	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1979G>A	2.37:g.125405440G>A	ENSP00000399013:p.Ser660Asn		125121910	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582134	0.46006	.	.	ENSG00000155052	ENST00000431078	T	0.25749	1.78	5.2	4.32	0.51571	.	0.000000	0.64402	D	0.000009	T	0.42720	0.1215	M	0.75150	2.29	0.44073	D	0.996829	D	0.62365	0.991	P	0.59595	0.86	T	0.30357	-0.9981	10	0.40728	T	0.16	.	9.0253	0.36224	0.0787:0.1473:0.774:0.0	.	660	Q8WYK1	CNTP5_HUMAN	N	660	ENSP00000399013:S660N	ENSP00000399013:S660N	S	+	2	0	CNTNAP5	125121910	0.997000	0.39634	0.997000	0.53966	0.969000	0.65631	2.786000	0.47790	1.329000	0.45376	0.561000	0.74099	AGC		0.612	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125405440	G	A	125405440	3	1	432	1	0	0	0	0	1	0	0	0	3650	971	34	2	2029	2	CNTNAP5	2	125405440	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09	16927792	125405440	117793933	7	23801											
TMEM163	81615	genome.wustl.edu	37	2	135214298	135214298	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:135214298T>G	ENST00000281924.6	-	8	923	c.859A>C	c.(859-861)Atg>Ctg	p.M287L		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	287						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		CACTCAAACATCTCGTAGTGA	0.517																																																0			2											104	79	88					2																	135214298		2203	4300	6503	134930768	SO:0001583	missense	81615				CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.859A>C	2.37:g.135214298T>G	ENSP00000281924:p.Met287Leu		134930768	Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967844	0.53507	.	.	ENSG00000152128	ENST00000281924	.	.	.	5.62	5.62	0.85841	.	0.040776	0.85682	D	0.000000	T	0.45337	0.1337	L	0.29908	0.895	0.38100	D	0.93724	B	0.29341	0.242	B	0.26517	0.07	T	0.44952	-0.9294	9	0.21014	T	0.42	.	15.4642	0.75387	0.0:0.0:0.0:1.0	.	287	Q8TC26	TM163_HUMAN	L	287	.	ENSP00000281924:M287L	M	-	1	0	TMEM163	134930768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.922000	0.70036	2.145000	0.66743	0.459000	0.35465	ATG		0.517	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923		G	135214298	T	G	135214298	3	3	432	1	0	0	0	0	1	0	0	0	16078	1435	50	5	14	5	TMEM163	2	135214298	Missense_Mutation	SNP	T	TCGA-61-1901-01A-01W-0639-09	9808858	135214298	107985075	8	23802											
DOCK10	55619	genome.wustl.edu	37	2	225670908	225670908	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr2:225670908G>C	ENST00000258390.7	-	34	3816	c.3749C>G	c.(3748-3750)aCa>aGa	p.T1250R	DOCK10_ENST00000409592.3_Missense_Mutation_p.T1244R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1250					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTGATAGCTGTCTGGCTTTG	0.348																																																0			2											144	144	144					2																	225670908		1863	4087	5950	225379152	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3749C>G	2.37:g.225670908G>C	ENSP00000258390:p.Thr1250Arg		225379152	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.94|13.94	2.386613|2.386613	0.42308|0.42308	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.22539	.|1.95;1.95	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.336949	.|0.32093	.|N	.|0.006582	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.38838|0.38838	1.175|1.175	0.39588|0.39588	D|D	0.969533|0.969533	.|B;B;B	.|0.24823	.|0.112;0.01;0.003	.|B;B;B	.|0.22386	.|0.039;0.019;0.002	T|T	0.04693|0.04693	-1.0933|-1.0933	5|10	.|0.23302	.|T	.|0.38	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1250;113;1244	.|Q96BY6;B4DF07;B3FL70	.|DOC10_HUMAN;.;.	E|R	141|1244;1250	.|ENSP00000386694:T1244R;ENSP00000258390:T1250R	.|ENSP00000258390:T1250R	Q|T	-|-	1|2	0|0	DOCK10|DOCK10	225379152|225379152	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.837000|0.837000	0.47467|0.47467	5.237000|5.237000	0.65360|0.65360	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.348	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			C	225670908	G	C	225670908	3	2	432	1	0	0	0	0	1	0	0	0	4685	1377	48	3	2903	3	DOCK10	2	225670908	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09	90456610	225670908	17528465	9	23803											
TRNT1	51095	genome.wustl.edu	37	3	3186274	3186274	+	Missense_Mutation	SNP	A	A	G	rs146717589		TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr3:3186274A>G	ENST00000251607.6	+	5	590	c.488A>G	c.(487-489)gAt>gGt	p.D163G	TRNT1_ENST00000280591.6_Missense_Mutation_p.D163G	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	163					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ATAGGTTTTGATGGCACTTTA	0.289																																																0			3											61	68	66					3																	3186274		2203	4294	6497	3161274	SO:0001583	missense	51095			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.488A>G	3.37:g.3186274A>G	ENSP00000251607:p.Asp163Gly		3161274	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	ENST00000251607.6	37	CCDS2561.2	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623117	0.87460	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.51574	0.7;0.72	5.91	5.91	0.95273	Poly A polymerase, head domain (1);	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.70903	2.155	0.80722	D	1	P;D	0.63046	0.567;0.992	B;D	0.72982	0.43;0.979	T	0.70479	-0.4860	10	0.59425	D	0.04	3.2321	16.3483	0.83171	1.0:0.0:0.0:0.0	.	163;163	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	G	163	ENSP00000251607:D163G;ENSP00000280591:D163G	ENSP00000251607:D163G	D	+	2	0	TRNT1	3161274	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.951000	0.93025	2.254000	0.74563	0.533000	0.62120	GAT		0.289	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			G	3186274	A	G	3186274	3	3	432	1	0	0	0	0	1	0	0	0	16573	333	12	4	502	4	TRNT1	3	3186274	Missense_Mutation	SNP	A	TCGA-61-1901-01A-01W-0639-09		3186274	194836156	10	23804											
CAPN7	23473	genome.wustl.edu	37	3	15282283	15282283	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr3:15282283T>A	ENST00000253693.2	+	14	1828	c.1575T>A	c.(1573-1575)gaT>gaA	p.D525E		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	525	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTTCCTGGGATGATCTCTGCC	0.303																																																0			3											121	121	121					3																	15282283		2203	4300	6503	15257287	SO:0001583	missense	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1575T>A	3.37:g.15282283T>A	ENSP00000253693:p.Asp525Glu		15257287		Missense_Mutation	SNP	ENST00000253693.2	37	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307980	0.23821	.	.	ENSG00000131375	ENST00000253693	T	0.38722	1.12	5.74	4.63	0.57726	Peptidase C2, calpain, catalytic domain (3);	0.101049	0.64402	D	0.000003	T	0.12347	0.0300	N	0.01493	-0.835	0.36518	D	0.870016	B	0.02656	0.0	B	0.11329	0.006	T	0.29518	-1.0009	10	0.02654	T	1	-15.3937	5.1108	0.14808	0.2405:0.0:0.2486:0.5108	.	525	Q9Y6W3	CAN7_HUMAN	E	525	ENSP00000253693:D525E	ENSP00000253693:D525E	D	+	3	2	CAPN7	15257287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.954000	0.49113	2.174000	0.68829	0.528000	0.53228	GAT		0.303	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		A	15282283	T	A	15282283	3	1	432	1	0	0	0	0	1	0	0	0	2631	1461	51	5	1629	5	CAPN7	3	15282283	Missense_Mutation	SNP	T	TCGA-61-1901-01A-01W-0639-09	12096009	15282283	182740147	11	23805											
RARB	5915	genome.wustl.edu	37	3	25502769	25502769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr3:25502769C>A	ENST00000404969.1	+	2	264	c.264C>A	c.(262-264)tgC>tgA	p.C88*	RARB_ENST00000330688.4_Nonsense_Mutation_p.C81*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	88					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACAAACCCTGCTTCGTCTGCC	0.517																																																0			3											114	113	113					3																	25502769		2203	4300	6503	25477773	SO:0001587	stop_gained	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.264C>A	3.37:g.25502769C>A	ENSP00000385865:p.Cys88*		25477773	P12891|Q00989|Q15298|Q9UN48	Nonsense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	C	40	8.144671	0.98675	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	.	.	.	5.71	1.41	0.22369	.	0.053242	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.681	0.23119	0.0:0.3673:0.0:0.6327	.	.	.	.	X	88;88;88;81	.	ENSP00000332296:C81X	C	+	3	2	RARB	25477773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.919000	0.40015	0.373000	0.24621	0.644000	0.83932	TGC		0.517	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		A	25502769	C	A	25502769	4	1	432	1	0	0	0	0	0	1	0	0	13056	805	28	3	249	3	RARB	3	25502769	Nonsense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09	10220486	25502769	172519661	12	23806											
RHOA	387	genome.wustl.edu	37	3	49397770	49397770	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr3:49397770C>A	ENST00000418115.1	-	5	838	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	GPX1_ENST00000496791.1_5'Flank|RHOA_ENST00000454011.2_3'UTR|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000419783.1_5'Flank|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	152					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAAAAGCGCCAATCCTGTTT	0.438																																																0			3											337	278	298					3																	49397770		2203	4300	6503	49372774	SO:0001583	missense	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.454G>T	3.37:g.49397770C>A	ENSP00000400175:p.Gly152Cys		49372774	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174601	0.38413	.	.	ENSG00000067560	ENST00000418115	T	0.74421	-0.84	6.03	6.03	0.97812	Small GTP-binding protein domain (1);	0.289755	0.37261	N	0.002162	T	0.79429	0.4444	M	0.85099	2.735	0.80722	D	1	B	0.13145	0.007	B	0.29267	0.1	T	0.76997	-0.2751	10	0.72032	D	0.01	.	14.0267	0.64590	0.151:0.849:0.0:0.0	.	152	P61586	RHOA_HUMAN	C	152	ENSP00000400175:G152C	ENSP00000400175:G152C	G	-	1	0	RHOA	49372774	0.785000	0.28726	1.000000	0.80357	0.977000	0.68977	1.080000	0.30779	2.861000	0.98227	0.655000	0.94253	GGC		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		A	49397770	C	A	49397770	3	1	432	1	0	0	0	0	1	0	0	0	13334	594	21	3	131	3	RHOA	3	49397770	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09	23895001	49397770	148624660	13	23807											
EXOC1	55763	genome.wustl.edu	37	4	56768660	56768660	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr4:56768660A>C	ENST00000381295.2	+	18	2836	c.2488A>C	c.(2488-2490)Aag>Cag	p.K830Q	EXOC1_ENST00000349598.6_Missense_Mutation_p.K815Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.K830Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	830					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TAACCTCTACAAGAAAGTTGA	0.333																																																0			4											92	96	95					4																	56768660		2203	4300	6503	56463417	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2488A>C	4.37:g.56768660A>C	ENSP00000370695:p.Lys830Gln		56463417	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147387	0.57151	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.6	5.6	0.85130	.	0.089238	0.85682	D	0.000000	T	0.63698	0.2533	L	0.59436	1.845	0.58432	D	0.999992	B;B	0.26120	0.142;0.09	B;B	0.37833	0.118;0.259	T	0.62623	-0.6815	9	0.41790	T	0.15	.	11.7353	0.51761	0.8527:0.1472:0.0:0.0	.	815;830	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Q	830;830;815	.	ENSP00000326514:K830Q	K	+	1	0	EXOC1	56463417	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.963000	0.76055	2.133000	0.65898	0.477000	0.44152	AAG		0.333	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		C	56768660	A	C	56768660	3	2	432	1	0	0	0	0	1	0	0	0	5301	131	5	5	2554	5	EXOC1	4	56768660	Missense_Mutation	SNP	A	TCGA-61-1901-01A-01W-0639-09		56768660	134385616	14	23808											
IRF2	3660	genome.wustl.edu	37	4	185320214	185320222	+	In_Frame_Del	DEL	CAGATGGGA	CAGATGGGA	-			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	CAGATGGGA	CAGATGGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr4:185320214_185320222delCAGATGGGA	ENST00000393593.3	-	7	748_756	c.541_549delTCCCATCTG	c.(541-549)tcccatctgdel	p.SHL181del		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	181					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TGTTGCTGTCCAGATGGGACTGTCCTACA	0.478																																																0			4																																								185557216	SO:0001651	inframe_deletion	3660				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.541_549delTCCCATCTG	4.37:g.185320214_185320222delCAGATGGGA	ENSP00000377218:p.Ser181_Leu183del		185557208	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	In_Frame_Del	DEL	ENST00000393593.3	37	CCDS3835.1																																																																																				0.478	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			-	185320222	CAGATGGGA	-	185320214	7	5	432	1	0	1	0	1	0	0	0	0	7828	581	21	0	512	0	IRF2	4	185320214	In_Frame_Del	DEL	CAGATGGGA	TCGA-61-1901-01A-01W-0639-09	128551554	185320214	5834062	15	23809											
ITGA2	3673	genome.wustl.edu	37	5	52377498	52377498	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr5:52377498G>A	ENST00000296585.5	+	26	3259	c.3116G>A	c.(3115-3117)aGt>aAt	p.S1039N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1039					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCTTTCAAAAGTGAAAATTTC	0.393																																																0			5											82	76	78					5																	52377498		2203	4300	6503	52413255	SO:0001583	missense	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3116G>A	5.37:g.52377498G>A	ENSP00000296585:p.Ser1039Asn		52413255	Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265851	0.23136	.	.	ENSG00000164171	ENST00000296585	T	0.47869	0.83	6.08	-0.931	0.10438	Integrin alpha-2 (1);	0.547984	0.21896	N	0.067510	T	0.24275	0.0588	N	0.14661	0.345	0.20307	N	0.999917	B	0.06786	0.001	B	0.09377	0.004	T	0.20107	-1.0285	10	0.17369	T	0.5	.	9.6515	0.39899	0.695:0.0:0.305:0.0	.	1039	P17301	ITA2_HUMAN	N	1039	ENSP00000296585:S1039N	ENSP00000296585:S1039N	S	+	2	0	ITGA2	52413255	0.998000	0.40836	0.976000	0.42696	0.793000	0.44817	1.038000	0.30254	-0.075000	0.12798	-0.136000	0.14681	AGT		0.393	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		A	52377498	G	A	52377498	3	1	432	1	0	0	0	0	1	0	0	0	7875	1029	36	2	3218	2	ITGA2	5	52377498	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09		52377498	128537762	16	23810											
PCDHB4	56131	genome.wustl.edu	37	5	140502021	140502021	+	Silent	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr5:140502021G>A	ENST00000194152.1	+	1	441	c.441G>A	c.(439-441)ccG>ccA	p.P147P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	147	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGCCAGCCGGGTACTCTAT	0.388																																																0			5											50	55	53					5																	140502021		2203	4299	6502	140482205	SO:0001819	synonymous_variant	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.441G>A	5.37:g.140502021G>A			140482205	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																				0.388	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140502021	G	A	140502021	2	1	432	1	0	0	0	0	0	0	0	1	11544	1103	39	1		1	PCDHB4	5	140502021	Silent	SNP	G	TCGA-61-1901-01A-01W-0639-09	88124523	140502021	40413239	17	23811											
GABRA6	2559	genome.wustl.edu	37	5	161117251	161117251	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr5:161117251A>T	ENST00000274545.5	+	7	1151	c.718A>T	c.(718-720)Atg>Ttg	p.M240L	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.M230L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	240					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)			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)	GCAAAGGAAGATGGGCTACTT	0.398										TCGA Ovarian(5;0.080)																																						0			5											164	145	151					5																	161117251		2203	4300	6503	161049829	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.718A>T	5.37:g.161117251A>T	ENSP00000274545:p.Met240Leu		161049829	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.52|16.52	3.146672|3.146672	0.57151|0.57151	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000523691|ENST00000520000	D;D;D|.	0.83992|.	-1.79;-1.79;-1.79|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Neurotransmitter-gated ion-channel ligand-binding (2);Neurotransmitter-gated ion-channel transmembrane domain (1);|.	0.036910|.	0.85682|.	D|.	0.000000|.	T|T	0.53706|0.53706	0.1813|0.1813	N|N	0.26130|0.26130	0.795|0.795	0.51767|0.51767	D|D	0.999932|0.999932	B|.	0.10296|.	0.003|.	B|.	0.15484|.	0.013|.	T|T	0.50923|0.50923	-0.8770|-0.8770	10|5	0.72032|.	D|.	0.01|.	.|.	15.2733|15.2733	0.73723|0.73723	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	240|.	Q16445|.	GBRA6_HUMAN|.	L|S	240;230;160|179	ENSP00000274545:M240L;ENSP00000430527:M230L;ENSP00000427989:M160L|.	ENSP00000274545:M240L|.	M|R	+|+	1|3	0|2	GABRA6|GABRA6	161049829|161049829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.390000|7.390000	0.79816|0.79816	2.016000|2.016000	0.59253|0.59253	0.533000|0.533000	0.62120|0.62120	ATG|AGA		0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			T	161117251	A	T	161117251	3	4	432	1	0	0	0	0	1	0	0	0	6165	333	12	5	744	5	GABRA6	5	161117251	Missense_Mutation	SNP	A	TCGA-61-1901-01A-01W-0639-09	20615230	161117251	19798009	18	23812											
HIST1H1C	3006	genome.wustl.edu	37	6	26056315	26056315	+	Silent	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr6:26056315C>A	ENST00000343677.2	-	1	384	c.342G>T	c.(340-342)ggG>ggT	p.G114G		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	114					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCTTGGCTTCCCCGGAGGCTG	0.577																																																0			6											69	78	75					6																	26056315		2203	4300	6503	26164294	SO:0001819	synonymous_variant	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.342G>T	6.37:g.26056315C>A			26164294	A8K4I2	Silent	SNP	ENST00000343677.2	37	CCDS4577.1																																																																																				0.577	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		A	26056315	C	A	26056315	2	1	432	1	0	0	0	0	0	0	0	1	7124	610	22	3		3	HIST1H1C	6	26056315	Silent	SNP	C	TCGA-61-1901-01A-01W-0639-09		26056315	145058752	19	23813											
TCP10	6953	genome.wustl.edu	37	6	167789513	167789513	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr6:167789513G>T	ENST00000397829.4	-	6	796	c.629C>A	c.(628-630)cCa>cAa	p.P210Q	TCP10_ENST00000366827.2_Missense_Mutation_p.P210Q	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	237						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AGCCTGCACTGGTGATTTTCT	0.592																																																0			6											36	39	38					6																	167789513		1976	4171	6147	167709503	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.629C>A	6.37:g.167789513G>T	ENSP00000380929:p.Pro210Gln		167709503	Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700819	0.48307	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.27104	1.69;1.69	1.65	1.65	0.23941	.	.	.	.	.	T	0.25865	0.0630	L	0.49126	1.545	0.21675	N	0.999592	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.03060	-1.1077	9	0.87932	D	0	.	6.8174	0.23839	0.0:0.0:1.0:0.0	.	237;237	Q12799;Q12799-2	TCP10_HUMAN;.	Q	210	ENSP00000355792:P210Q;ENSP00000380929:P210Q	ENSP00000355792:P210Q	P	-	2	0	TCP10	167709503	0.009000	0.17119	0.030000	0.17652	0.448000	0.32197	1.546000	0.36179	1.236000	0.43740	0.306000	0.20318	CCA		0.592	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		T	167789513	G	T	167789513	3	4	432	1	0	0	0	0	1	0	0	0	15710	1348	47	3	363	3	TCP10	6	167789513	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09	141733198	167789513	3325554	20	23814											
OSBPL3	26031	genome.wustl.edu	37	7	24874172	24874172	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr7:24874172C>T	ENST00000313367.2	-	15	2130	c.1679G>A	c.(1678-1680)tGc>tAc	p.C560Y	OSBPL3_ENST00000409069.1_Missense_Mutation_p.C493Y|OSBPL3_ENST00000431825.2_Missense_Mutation_p.C493Y|OSBPL3_ENST00000353930.1_Missense_Mutation_p.C524Y|OSBPL3_ENST00000396431.1_Missense_Mutation_p.C529Y|OSBPL3_ENST00000352860.1_Missense_Mutation_p.C529Y|OSBPL3_ENST00000396429.1_Missense_Mutation_p.C524Y	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	560					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CAGCTCCTCGCAGAGCCTCTG	0.617																																																0			7											74	68	70					7																	24874172		2203	4300	6503	24840697	SO:0001583	missense	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1679G>A	7.37:g.24874172C>T	ENSP00000315410:p.Cys560Tyr		24840697	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103526	0.94245	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;1.0;1.0;0.975;1.0	T	0.75013	-0.3467	10	0.87932	D	0	-4.8689	20.17	0.98157	0.0:1.0:0.0:0.0	.	493;524;493;529;524;560	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	Y	560;529;524;493;529;524;493	ENSP00000315410:C560Y;ENSP00000315331:C529Y;ENSP00000315277:C524Y;ENSP00000389779:C493Y;ENSP00000379708:C529Y;ENSP00000379706:C524Y;ENSP00000386953:C493Y	ENSP00000315410:C560Y	C	-	2	0	OSBPL3	24840697	1.000000	0.71417	0.982000	0.44146	0.943000	0.58893	7.764000	0.85297	2.775000	0.95449	0.467000	0.42956	TGC		0.617	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			T	24874172	C	T	24874172	3	4	432	1	0	0	0	0	1	0	0	0	11279	710	25	2	1020	2	OSBPL3	7	24874172	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09		24874172	134264491	21	23815											
FAM3C	10447	genome.wustl.edu	37	7	120990537	120990537	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr7:120990537C>T	ENST00000359943.3	-	10	875	c.662G>A	c.(661-663)tGc>tAc	p.C221Y		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	221					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					CTGGGGGATGCATCCTTCCAT	0.368																																																0			7											140	132	135					7																	120990537		2203	4297	6500	120777773	SO:0001583	missense	10447			D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"predicted osteoblast protein", "interleukin-like EMT inducer", "interleukin-like epithelial-mesenchymal transition inducer"	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.662G>A	7.37:g.120990537C>T	ENSP00000353025:p.Cys221Tyr		120777773	A6NDN2|A8K3R7	Missense_Mutation	SNP	ENST00000359943.3	37	CCDS5782.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668404	0.88348	.	.	ENSG00000196937	ENST00000359943	T	0.67171	-0.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87638	0.2520	10	0.87932	D	0	-10.5419	20.6525	0.99598	0.0:1.0:0.0:0.0	.	221	Q92520	FAM3C_HUMAN	Y	221	ENSP00000353025:C221Y	ENSP00000353025:C221Y	C	-	2	0	FAM3C	120777773	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.400000	0.79949	2.890000	0.99128	0.585000	0.79938	TGC		0.368	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		T	120990537	C	T	120990537	3	4	432	1	0	0	0	0	1	0	0	0	5558	710	25	2	25	2	FAM3C	7	120990537	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09	96116365	120990537	38148126	22	23816											
ADCK2	90956	genome.wustl.edu	37	7	140373565	140373565	+	Frame_Shift_Del	DEL	C	C	-			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr7:140373565delC	ENST00000072869.4	+	1	613	c.435delC	c.(433-435)tacfs	p.Y145fs	ADCK2_ENST00000476491.1_Frame_Shift_Del_p.Y145fs	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	145						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GCCCAACCTACATCAAACTGG	0.617																																																0			7											73	83	79					7																	140373565		2203	4300	6503	140020034	SO:0001589	frameshift_variant	90956			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.435delC	7.37:g.140373565delC	ENSP00000072869:p.Tyr145fs		140020034	Q96CN6|Q9Y6T5	Frame_Shift_Del	DEL	ENST00000072869.4	37	CCDS5861.1																																																																																				0.617	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		-	140373565	C	-	140373565	7	5	432	1	0	1	0	1	0	0	0	0	289	489	17	0	437	0	ADCK2	7	140373565	Frame_Shift_Del	DEL	C	TCGA-61-1901-01A-01W-0639-09	19383028	140373565	18765098	23	23817											
SSPO	23145	genome.wustl.edu	37	7	149518041	149518041	+	RNA	SNP	C	C	T	rs117930273	byFrequency	TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr7:149518041C>T	ENST00000378016.2	+	0	12384							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACAGCTGGGCCCCGGGGAGCC	0.677													C|||	51	0.0101837	0.0015	0.013	5008	,	,		17902	0.001		0.0368	False		,,,				2504	0.002															0			7						C		39,4121		0,39,2041	11	16	14		12398	3.5	1	7	dbSNP_132	14	387,8033		13,361,3836	yes	coding-notMod3	SSPO	NM_198455.2		13,400,5877	TT,TC,CC		4.5962,0.9375,3.3863			149518041	426,12154	2080	4210	6290	149148974			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518041C>T			149148974	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149518041	C	T	149518041	1	4	432	0	1	0	0	0	0	0	0	0	15191	610	22	2		2	SSPO	7	149518041	RNA	SNP	C	TCGA-61-1901-01A-01W-0639-09	9144476	149518041	9620622	24	23818											
TEX15	56154	genome.wustl.edu	37	8	30703783	30703783	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr8:30703783G>T	ENST00000256246.2	-	1	2825	c.2751C>A	c.(2749-2751)agC>agA	p.S917R	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	917					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTCCTTTTGCTAATTCTTG	0.333																																																0			8											117	121	120					8																	30703783		2203	4298	6501	30823325	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2751C>A	8.37:g.30703783G>T	ENSP00000256246:p.Ser917Arg		30823325		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641768	0.47153	.	.	ENSG00000133863	ENST00000256246	T	0.13089	2.62	5.62	2.75	0.32379	.	0.276491	0.31279	N	0.007931	T	0.12732	0.0309	L	0.50333	1.59	0.26478	N	0.975165	B	0.17667	0.023	B	0.26864	0.074	T	0.16897	-1.0387	10	0.87932	D	0	.	5.306	0.15803	0.1452:0.0:0.6748:0.1801	.	917	Q9BXT5	TEX15_HUMAN	R	917	ENSP00000256246:S917R	ENSP00000256246:S917R	S	-	3	2	TEX15	30823325	0.221000	0.23642	0.994000	0.49952	0.466000	0.32739	0.313000	0.19415	1.323000	0.45263	0.467000	0.42956	AGC		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30703783	G	T	30703783	3	4	432	1	0	0	0	0	1	0	0	0	15779	1310	46	3	5634	3	TEX15	8	30703783	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09		30703783	115660239	25	23819											
ADAM32	203102	genome.wustl.edu	37	8	38994208	38994208	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr8:38994208G>T	ENST00000379907.4	+	3	298	c.171G>T	c.(169-171)gaG>gaT	p.E57D	ADAM32_ENST00000437682.2_Missense_Mutation_p.E64D|ADAM32_ENST00000519315.1_Missense_Mutation_p.E57D	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	57						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CAATAGATGAGAAACTGTACA	0.274																																																0			8											55	50	52					8																	38994208		1795	4049	5844	39113365	SO:0001583	missense	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.171G>T	8.37:g.38994208G>T	ENSP00000369238:p.Glu57Asp		39113365	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	8.885	0.952608	0.18431	.	.	ENSG00000197140	ENST00000523400;ENST00000399831;ENST00000437682;ENST00000519315;ENST00000379907;ENST00000522506;ENST00000399826	T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.37	5.65	3.84	0.44239	Peptidase M12B, propeptide (1);	0.499771	0.14936	N	0.289811	T	0.10551	0.0258	L	0.53617	1.68	0.09310	N	1	B;B;P	0.38167	0.236;0.236;0.621	B;B;B	0.44224	0.374;0.374;0.444	T	0.10776	-1.0615	10	0.59425	D	0.04	.	8.7407	0.34556	0.1724:0.0:0.8276:0.0	.	64;57;57	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	D	88;57;64;57;57;57;58	ENSP00000427735:E88D;ENSP00000382727:E57D;ENSP00000405978:E64D;ENSP00000429422:E57D;ENSP00000369238:E57D;ENSP00000429066:E57D	ENSP00000369238:E57D	E	+	3	2	ADAM32	39113365	0.062000	0.20869	0.180000	0.23079	0.468000	0.32798	0.920000	0.28705	1.632000	0.50472	-0.140000	0.14226	GAG		0.274	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		T	38994208	G	T	38994208	3	4	432	1	0	0	0	0	1	0	0	0	249	933	33	3	181	3	ADAM32	8	38994208	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09	8290425	38994208	107369814	26	23820											
KCNK9	51305	genome.wustl.edu	37	8	140631230	140631230	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr8:140631230C>T	ENST00000520439.1	-	2	459	c.396G>A	c.(394-396)atG>atA	p.M132I	KCNK9_ENST00000303015.1_Missense_Mutation_p.M132I|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	132					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGAAGGTGTTCATGCGCTCGC	0.582																																																0			8											101	79	87					8																	140631230		2203	4300	6503	140700412	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.396G>A	8.37:g.140631230C>T	ENSP00000430676:p.Met132Ile		140700412	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371077	0.24771	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.21932	1.98;1.98;1.98	5.85	5.85	0.93711	Ion transport 2 (1);	0.102679	0.64402	D	0.000001	T	0.10766	0.0263	N	0.01705	-0.755	0.80722	D	1	B	0.15930	0.015	B	0.22601	0.04	T	0.32561	-0.9902	10	0.20519	T	0.43	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	132	Q9NPC2	KCNK9_HUMAN	I	132	ENSP00000429847:M132I;ENSP00000302166:M132I;ENSP00000430676:M132I	ENSP00000302166:M132I	M	-	3	0	KCNK9	140700412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.304000	0.78882	2.753000	0.94483	0.655000	0.94253	ATG		0.582	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		T	140631230	C	T	140631230	3	4	432	1	0	0	0	0	1	0	0	0	8072	826	29	2	732	2	KCNK9	8	140631230	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09	101637022	140631230	5732792	27	23821											
C11orf41	25758	genome.wustl.edu	37	11	33565416	33565416	+	Silent	SNP	A	A	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr11:33565416A>G	ENST00000321505.4	+	1	1596	c.1416A>G	c.(1414-1416)gcA>gcG	p.A472A	KIAA1549L_ENST00000265654.5_Silent_p.A472A|KIAA1549L_ENST00000389726.3_Silent_p.A472A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	472						integral component of membrane (GO:0016021)											CAGTGACTGCAGAAGGGTTTA	0.473											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			11											144	137	140					11																	33565416		1905	4135	6040	33521992	SO:0001819	synonymous_variant	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1416A>G	11.37:g.33565416A>G		841	33521992	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																				0.473	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		G	33565416	A	G	33565416	2	3	432	1	0	0	0	0	0	0	0	1	1640	175	7	4		4	C11orf41	11	33565416	Silent	SNP	A	TCGA-61-1901-01A-01W-0639-09		33565416	101441100	28	23822											
OR5B2	390190	genome.wustl.edu	37	11	58190663	58190663	+	Silent	SNP	G	G	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr11:58190663G>T	ENST00000302581.2	-	1	123	c.72C>A	c.(70-72)ccC>ccA	p.P24P		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGATAAAGAGGGGGATCTGTA	0.458																																																0			11											105	99	101					11																	58190663		2201	4295	6496	57947239	SO:0001819	synonymous_variant	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.72C>A	11.37:g.58190663G>T			57947239	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	CCDS31550.1																																																																																				0.458	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		T	58190663	G	T	58190663	2	4	432	1	0	0	0	0	0	0	0	1	11150	1219	43	3		3	OR5B2	11	58190663	Silent	SNP	G	TCGA-61-1901-01A-01W-0639-09	24625247	58190663	76815853	29	23823											
TECTA	7007	genome.wustl.edu	37	11	121000804	121000804	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr11:121000804G>A	ENST00000392793.1	+	10	3096	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	TECTA_ENST00000264037.2_Missense_Mutation_p.R942H			O75443	TECTA_HUMAN	tectorin alpha	942					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCCTTTTCCGCCTGTGCCAG	0.627																																																0			11											63	61	62					11																	121000804		2203	4299	6502	120506014	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2825G>A	11.37:g.121000804G>A	ENSP00000376543:p.Arg942His		120506014		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762041	0.69763	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76968	-1.06;-1.06	5.78	5.78	0.91487	Uncharacterised domain, cysteine-rich (2);	0.108901	0.64402	D	0.000004	D	0.85048	0.5608	L	0.58101	1.795	0.40809	D	0.983403	D	0.71674	0.998	D	0.64877	0.93	T	0.80489	-0.1360	10	0.19147	T	0.46	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	942	O75443	TECTA_HUMAN	H	942	ENSP00000376543:R942H;ENSP00000264037:R942H	ENSP00000264037:R942H	R	+	2	0	TECTA	120506014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.104000	0.71498	2.742000	0.94016	0.650000	0.86243	CGC		0.627	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	121000804	G	A	121000804	3	1	432	1	0	0	0	0	1	0	0	0	15747	1087	38	1	2859	1	TECTA	11	121000804	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09	62810141	121000804	14005712	30	23824											
KIF21A	55605	genome.wustl.edu	37	12	39734077	39734077	+	Nonsense_Mutation	SNP	T	T	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr12:39734077T>A	ENST00000361418.5	-	16	2215	c.2200A>T	c.(2200-2202)Aga>Tga	p.R734*	KIF21A_ENST00000541463.2_Nonsense_Mutation_p.R721*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.R721*|KIF21A_ENST00000395670.3_Nonsense_Mutation_p.R734*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.R721*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	734					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCTTGAAGTCTCTGCAGTTCT	0.368																																																0			12											119	103	108					12																	39734077		2203	4297	6500	38020344	SO:0001587	stop_gained	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2200A>T	12.37:g.39734077T>A	ENSP00000354878:p.Arg734*		38020344	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.725128|5.725128	0.96847|0.96847	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	.|.	.|.	.|.	5.22|5.22	-2.23|-2.23	0.06930|0.06930	.|.	0.000000|0.000000	0.52532|0.52532	D|D	0.000066|0.000066	T|.	0.48466|.	0.1501|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50717|.	-0.8795|.	4|.	.|0.10902	.|T	.|0.67	.|.	17.0259|17.0259	0.86446|0.86446	0.0:0.0:0.5789:0.4211|0.0:0.0:0.5789:0.4211	.|.	.|.	.|.	.|.	S|X	81|721;734;734;721;734;721	.|.	.|ENSP00000344501:R734X	R|R	-|-	3|1	2|2	KIF21A|KIF21A	38020344|38020344	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.985000|0.985000	0.73830|0.73830	3.304000|3.304000	0.51866|0.51866	-0.301000|-0.301000	0.08882|0.08882	0.533000|0.533000	0.62120|0.62120	AGA|AGA		0.368	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		A	39734077	T	A	39734077	4	1	432	1	0	0	0	0	0	1	0	0	8288	1559	54	5	2916	5	KIF21A	12	39734077	Nonsense_Mutation	SNP	T	TCGA-61-1901-01A-01W-0639-09		39734077	94117818	31	23825											
OR10P1	121130	genome.wustl.edu	37	12	56031518	56031518	+	Silent	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr12:56031518C>A	ENST00000309675.2	+	1	875	c.843C>A	c.(841-843)gtC>gtA	p.V281V	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTACACAGTCATCACACCCA	0.577																																																0			12											81	73	76					12																	56031518		2203	4300	6503	54317785	SO:0001819	synonymous_variant	121130			BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"GPCR / Class A : Olfactory receptors"	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.843C>A	12.37:g.56031518C>A			54317785	B9EGY4	Silent	SNP	ENST00000309675.2	37	CCDS31828.1																																																																																				0.577	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			A	56031518	C	A	56031518	2	1	432	1	0	0	0	0	0	0	0	1	10915	813	29	3		3	OR10P1	12	56031518	Silent	SNP	C	TCGA-61-1901-01A-01W-0639-09	16297441	56031518	77820377	32	23826											
TMCO3	55002	genome.wustl.edu	37	13	114152780	114152780	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr13:114152780G>A	ENST00000434316.2	+	3	927	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.A190T	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	190						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TGTAAGAAAGGCAGCGGATCG	0.428																																																0			13											135	132	133					13																	114152780		2203	4300	6503	113200781	SO:0001583	missense	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.568G>A	13.37:g.114152780G>A	ENSP00000389399:p.Ala190Thr		113200781	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691241	0.48097	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.33654	1.4	5.2	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	M	0.74258	2.255	0.58432	D	0.999996	D;D	0.62365	0.985;0.991	P;D	0.64506	0.8;0.926	T	0.63849	-0.6544	10	0.72032	D	0.01	-24.6227	14.7442	0.69477	0.0:0.0:0.8542:0.1458	.	190;190	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	T	190	ENSP00000389399:A190T	ENSP00000364540:A190T	A	+	1	0	TMCO3	113200781	1.000000	0.71417	0.244000	0.24202	0.030000	0.12068	9.409000	0.97331	1.131000	0.42111	0.555000	0.69702	GCA		0.428	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		A	114152780	G	A	114152780	3	1	432	1	0	0	0	0	1	0	0	0	15997	1203	42	2	574	2	TMCO3	13	114152780	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09		114152780	1017098	33	23827											
OR4M1	441670	genome.wustl.edu	37	14	20248917	20248917	+	Missense_Mutation	SNP	G	G	A	rs370827948		TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr14:20248917G>A	ENST00000315957.4	+	1	517	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCCTGGTGGCTCTCTCCTG	0.502																																																0			14											256	267	263					14																	20248917		2203	4300	6503	19318757	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.436G>A	14.37:g.20248917G>A	ENSP00000319654:p.Ala146Thr		19318757	B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	12.99	2.102809	0.37145	.	.	ENSG00000176299	ENST00000315957	T	0.39997	1.05	4.33	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000185	T	0.34978	0.0916	L	0.39245	1.2	0.09310	N	1	P	0.42123	0.771	B	0.42282	0.382	T	0.21177	-1.0253	10	0.39692	T	0.17	-3.8942	11.3673	0.49679	0.0:0.0:0.8186:0.1814	.	146	Q8NGD0	OR4M1_HUMAN	T	146	ENSP00000319654:A146T	ENSP00000319654:A146T	A	+	1	0	OR4M1	19318757	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	-0.493000	0.06459	2.407000	0.81776	0.506000	0.49869	GCT		0.502	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			A	20248917	G	A	20248917	3	1	432	1	0	0	0	0	1	0	0	0	11075	1203	42	2	438	2	OR4M1	14	20248917	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09		20248917	87100623	34	23828											
CES7	221223	genome.wustl.edu	37	16	55880595	55880595	+	Splice_Site	SNP	C	C	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr16:55880595C>G	ENST00000290567.9	-	13	1618		c.e13-1		CES5A_ENST00000541580.1_Splice_Site|CES5A_ENST00000521992.1_Splice_Site|CES5A_ENST00000319165.9_Splice_Site|CES5A_ENST00000518005.1_Splice_Site|CES5A_ENST00000520435.1_Splice_Site	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATTAGGATTCCTAGAAGGGAG	0.537																																																0			16											160	163	162					16																	55880595		2198	4300	6498	54438096	SO:0001630	splice_region_variant	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1497-1G>C	16.37:g.55880595C>G			54438096	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Splice_Site	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580217	0.28180	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2763	0.87116	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CES5A	54438096	0.996000	0.38824	0.998000	0.56505	0.051000	0.14879	4.486000	0.60286	2.741000	0.93983	0.655000	0.94253	.		0.537	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	Intron	G	55880595	C	G	55880595	5	3	432	1	0	0	0	0	0	0	1	0	3272	695	24	3	235	3	CES7	16	55880595	Splice_Site	SNP	C	TCGA-61-1901-01A-01W-0639-09		55880595	34474158	35	23829											
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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"	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	17	GRCh37	CM004908	TP53	M							62	48	53					17																	7574003		2203	4300	6503	7514728	SO:0001589	frameshift_variant	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.1024delC	17.37:g.7574003delG	ENSP00000269305:p.Arg342fs		7514728	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7574003	G	-	7574003	7	5	432	1	0	1	0	1	0	0	0	0	16381	1124	39	0	165	0	TP53	17	7574003	Frame_Shift_Del	DEL	G	TCGA-61-1901-01A-01W-0639-09		7574003	73621207	36	23830											
CCL15	6359	genome.wustl.edu	37	17	34328501	34328501	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr17:34328501G>A	ENST00000354059.4	-	1	583	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	RP11-104J23.1_ENST00000590192.1_RNA|CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.L11F	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	11					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAAGCATGAGGCAGGAGAGG	0.602																																																0			17											88	67	74					17																	34328501		2203	4300	6503	31352614	SO:0001583	missense	6359			AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"Chemokine ligands", "Endogenous ligands"	10613	protein-coding gene	gene with protein product	"leukotactin 1", "CC chemokine 3", "macrophage inflammatory protein 5", "chemokine CC-2", "MIP-1 delta"	601393	"small inducible cytokine subfamily A (Cys-Cys), member 15"	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.31C>T	17.37:g.34328501G>A	ENSP00000293276:p.Leu11Phe		31352614	B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	ENST00000354059.4	37	CCDS11304.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771055	0.31320	.	.	ENSG00000161574	ENST00000354059	T	0.10477	2.87	3.32	2.35	0.29111	.	0.241499	0.27451	N	0.019314	T	0.08044	0.0201	L	0.41710	1.295	0.25557	N	0.987023	B	0.21606	0.058	B	0.18871	0.023	T	0.25847	-1.0120	10	0.30854	T	0.27	.	6.5238	0.22289	0.1336:0.0:0.8664:0.0	.	11	Q16663	CCL15_HUMAN	F	11	ENSP00000293276:L11F	ENSP00000293276:L11F	L	-	1	0	CCL15	31352614	0.995000	0.38212	0.971000	0.41717	0.163000	0.22366	0.788000	0.26872	0.958000	0.37956	0.603000	0.83216	CTC		0.602	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167		A	34328501	G	A	34328501	3	1	432	1	0	0	0	0	1	0	0	0	2886	1000	35	2	326	2	CCL15	17	34328501	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09	26754498	34328501	46866709	37	23831											
EFTUD2	9343	genome.wustl.edu	37	17	42929828	42929828	+	Silent	SNP	C	C	A	rs376156789		TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr17:42929828C>A	ENST00000426333.2	-	26	2961	c.2664G>T	c.(2662-2664)cgG>cgT	p.R888R	EFTUD2_ENST00000591382.1_Silent_p.R888R|EFTUD2_ENST00000402521.3_Silent_p.R853R|EFTUD2_ENST00000592576.1_Silent_p.R878R	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	888					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGGTGTGAGTCCGGAGATCAG	0.562																																					Ovarian(10;65 485 10258 29980 30707)											0			17						C	,	1,4405	2.1+/-5.4	0,1,2202	88	76	80		2559,2664	1.5	1	17		80	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EFTUD2	NM_001142605.1,NM_004247.3	,	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,	853/938,888/973	42929828	1,13005	2203	4300	6503	40285354	SO:0001819	synonymous_variant	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2664G>T	17.37:g.42929828C>A			40285354	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	ENST00000426333.2	37	CCDS11489.1																																																																																				0.562	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		A	42929828	C	A	42929828	2	1	432	1	0	0	0	0	0	0	0	1	4961	842	30	3		3	EFTUD2	17	42929828	Silent	SNP	C	TCGA-61-1901-01A-01W-0639-09	8601327	42929828	38265382	38	23832											
NPEPPS	9520	genome.wustl.edu	37	17	45664704	45664704	+	Silent	SNP	T	T	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr17:45664704T>G	ENST00000322157.4	+	9	1326	c.1089T>G	c.(1087-1089)gtT>gtG	p.V363V	NPEPPS_ENST00000530173.1_Silent_p.V359V|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Silent_p.V283V	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	363					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAAATCTTGTTACTATGGTAT	0.373																																																0			17											46	42	43					17																	45664704		1822	4064	5886	43019703	SO:0001819	synonymous_variant	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1089T>G	17.37:g.45664704T>G			43019703	B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	ENST00000322157.4	37	CCDS45721.1																																																																																				0.373	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		G	45664704	T	G	45664704	2	3	432	1	0	0	0	0	0	0	0	1	10575	1741	61	5		5	NPEPPS	17	45664704	Silent	SNP	T	TCGA-61-1901-01A-01W-0639-09	2734876	45664704	35530506	39	23833											
PTPRM	5797	genome.wustl.edu	37	18	8113615	8113615	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr18:8113615C>A	ENST00000332175.8	+	12	3025	c.1988C>A	c.(1987-1989)gCa>gAa	p.A663E	PTPRM_ENST00000400053.4_Missense_Mutation_p.A601E|PTPRM_ENST00000444013.1_Missense_Mutation_p.A450E|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.A663E|PTPRM_ENST00000580170.1_Missense_Mutation_p.A663E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	663	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TACTTTGCTGCAGAATTTCCT	0.433																																																0			18											113	107	109					18																	8113615		2203	4300	6503	8103615	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1988C>A	18.37:g.8113615C>A	ENSP00000331418:p.Ala663Glu		8103615	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385759	0.95967	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.58060	0.69;0.71;0.51;0.36	5.84	5.84	0.93424	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.81112	2.525	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.78314	0.988;0.991;0.991	T	0.77918	-0.2408	10	0.87932	D	0	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	450;663;663	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	E	663;663;601;450	ENSP00000331418:A663E;ENSP00000382933:A663E;ENSP00000382927:A601E;ENSP00000387608:A450E	ENSP00000331418:A663E	A	+	2	0	PTPRM	8103615	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.487000	0.81328	2.764000	0.94973	0.650000	0.86243	GCA		0.433	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			A	8113615	C	A	8113615	3	1	432	1	0	0	0	0	1	0	0	0	12809	710	25	3	2034	3	PTPRM	18	8113615	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09		8113615	69963633	40	23834											
SS18	6760	genome.wustl.edu	37	18	23667502	23667502	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr18:23667502C>A	ENST00000415083.2	-	2	164	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	SS18_ENST00000545952.1_5'UTR|SS18_ENST00000269137.7_Missense_Mutation_p.D37Y|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000542743.1_5'UTR|SS18_ENST00000542420.2_Missense_Mutation_p.D14Y|SS18_ENST00000539849.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	37	Transcriptional activation.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTCTGAGAGTCCATTATACAC	0.274			T	"SSX1,  SSX2"	synovial sarcoma																																		Dom	yes		18	18q11.2	6760	"synovial sarcoma translocation, chromosome 18"		M	0			18											96	102	100					18																	23667502		2202	4295	6497	21921500	SO:0001583	missense	6760			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.109G>T	18.37:g.23667502C>A	ENSP00000414516:p.Asp37Tyr		21921500	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300075	0.40694	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420	T;T	0.43688	0.98;0.94	6.16	5.3	0.74995	.	0.040238	0.85682	D	0.000000	T	0.64046	0.2563	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.947;0.998	T	0.68364	-0.5428	10	0.87932	D	0	-7.0147	14.7025	0.69166	0.0:0.9297:0.0:0.0703	.	37;37	Q4VAX0;Q15532	.;SSXT_HUMAN	Y	40;37;37;14	ENSP00000269137:D37Y;ENSP00000438066:D14Y	ENSP00000269137:D37Y	D	-	1	0	SS18	21921500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.174000	0.77620	1.623000	0.50342	0.650000	0.86243	GAC		0.274	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			A	23667502	C	A	23667502	3	1	432	1	0	0	0	0	1	0	0	0	15177	855	30	3	1187	3	SS18	18	23667502	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09	15553887	23667502	54409746	41	23835											
OR2Z1	284383	genome.wustl.edu	37	19	8841727	8841727	+	Missense_Mutation	SNP	G	G	T	rs146942346	byFrequency	TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:8841727G>T	ENST00000324060.2	+	1	412	c.337G>T	c.(337-339)Gtc>Ttc	p.V113F		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCTGAGGGCGTCCTGTTGGT	0.532																																																0			19											128	101	110					19																	8841727		2203	4300	6503	8702727	SO:0001583	missense	284383			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.337G>T	19.37:g.8841727G>T	ENSP00000316284:p.Val113Phe		8702727	B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.588813	0.00864	.	.	ENSG00000181733	ENST00000324060	T	0.01505	4.82	4.33	-3.76	0.04359	GPCR, rhodopsin-like superfamily (1);	1.086380	0.07134	N	0.846007	T	0.00552	0.0018	N	0.00729	-1.24	0.09310	N	1	P	0.41710	0.76	B	0.39935	0.314	T	0.42361	-0.9456	10	0.02654	T	1	.	5.5655	0.17168	0.4632:0.3465:0.1902:0.0	.	113	Q8NG97	OR2Z1_HUMAN	F	113	ENSP00000316284:V113F	ENSP00000316284:V113F	V	+	1	0	OR2Z1	8702727	0.000000	0.05858	0.938000	0.37757	0.021000	0.10359	-1.234000	0.02931	-0.222000	0.09958	-0.270000	0.10280	GTC		0.532	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			T	8841727	G	T	8841727	3	4	432	1	0	0	0	0	1	0	0	0	11036	1145	40	3	339	3	OR2Z1	19	8841727	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09		8841727	50287256	42	23836											
OR2Z1	284383	genome.wustl.edu	37	19	8841880	8841880	+	Silent	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:8841880C>T	ENST00000324060.2	+	1	565	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCCATCACCCTGCATTTTCC	0.542																																																0			19											193	177	183					19																	8841880		2203	4300	6503	8702880	SO:0001819	synonymous_variant	284383			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.490C>T	19.37:g.8841880C>T			8702880	B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	CCDS32895.1																																																																																				0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			T	8841880	C	T	8841880	2	4	432	1	0	0	0	0	0	0	0	1	11036	680	24	2		2	OR2Z1	19	8841880	Silent	SNP	C	TCGA-61-1901-01A-01W-0639-09	153	8841880	50287103	43	23837											
LDLR	3949	genome.wustl.edu	37	19	11224402	11224402	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:11224402C>A	ENST00000558518.1	+	10	1737	c.1550C>A	c.(1549-1551)tCc>tAc	p.S517Y	LDLR_ENST00000545707.1_Missense_Mutation_p.S390Y|LDLR_ENST00000535915.1_Missense_Mutation_p.S476Y|LDLR_ENST00000557933.1_Missense_Mutation_p.S517Y|LDLR_ENST00000455727.2_Missense_Mutation_p.S349Y|LDLR_ENST00000558013.1_Missense_Mutation_p.S517Y	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	517					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GAGAACGGCTCCAAGCCAAGG	0.567																																					GBM(18;201 575 7820 21545)											1	Unknown(1)	lung(1)	19											114	89	98					19																	11224402		2203	4300	6503	11085402	SO:0001583	missense	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1550C>A	19.37:g.11224402C>A	ENSP00000454071:p.Ser517Tyr		11085402	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879747	0.33162	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.96041	-3.89;-3.89;-3.89	4.72	4.72	0.59763	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.101979	0.39985	N	0.001218	D	0.97046	0.9035	M	0.64170	1.965	0.24682	N	0.993351	D;D;D;D;D;D	0.71674	0.998;0.998;0.991;0.995;0.991;0.983	D;D;D;D;D;D	0.75484	0.986;0.986;0.971;0.971;0.971;0.971	D	0.92716	0.6187	10	0.72032	D	0.01	.	16.4495	0.83974	0.0:1.0:0.0:0.0	.	349;390;396;476;529;517	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	Y	517;390;476;349	ENSP00000437639:S390Y;ENSP00000440520:S476Y;ENSP00000397829:S349Y	ENSP00000252444:S517Y	S	+	2	0	LDLR	11085402	0.003000	0.15002	0.071000	0.20095	0.082000	0.17680	1.464000	0.35288	2.186000	0.69663	0.555000	0.69702	TCC		0.567	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			A	11224402	C	A	11224402	3	1	432	1	0	0	0	0	1	0	0	0	8704	855	30	3	1588	3	LDLR	19	11224402	Missense_Mutation	SNP	C	TCGA-61-1901-01A-01W-0639-09	2382522	11224402	47904581	44	23838											
ZNF20	7568	genome.wustl.edu	37	19	12244149	12244149	+	Silent	SNP	C	C	T			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:12244149C>T	ENST00000334213.5	-	4	1076	c.852G>A	c.(850-852)gaG>gaA	p.E284E	ZNF20_ENST00000485451.1_5'Flank|ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						ATTGCTTACACTCATAGGGTT	0.398																																																0			19											74	78	77					19																	12244149		2202	4300	6502	12105149	SO:0001819	synonymous_variant	7568			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.852G>A	19.37:g.12244149C>T			12105149	Q8N457|Q9UG41	Silent	SNP	ENST00000334213.5	37	CCDS45986.1																																																																																				0.398	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		T	12244149	C	T	12244149	2	4	432	1	0	0	0	0	0	0	0	1	17761	564	20	2		2	ZNF20	19	12244149	Silent	SNP	C	TCGA-61-1901-01A-01W-0639-09	1019747	12244149	46884834	45	23839											
KCNK6	9424	genome.wustl.edu	37	19	38817291	38817291	+	Silent	SNP	G	G	T	rs144408830		TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:38817291G>T	ENST00000263372.3	+	2	488	c.381G>T	c.(379-381)gcG>gcT	p.A127A		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	127					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	TCGCCTTTGCGCTCCTGGGCG	0.572																																																0			19											84	80	81					19																	38817291		2203	4300	6503	43509131	SO:0001819	synonymous_variant	9424			AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.381G>T	19.37:g.38817291G>T			43509131	Q9HB47	Silent	SNP	ENST00000263372.3	37	CCDS12513.1																																																																																				0.572	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		T	38817291	G	T	38817291	2	4	432	1	0	0	0	0	0	0	0	1	8070	1074	38	3		3	KCNK6	19	38817291	Silent	SNP	G	TCGA-61-1901-01A-01W-0639-09	26573142	38817291	20311692	46	23840											
KIR2DL3	3804	genome.wustl.edu	37	19	55263948	55263948	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr19:55263948G>C	ENST00000342376.3	+	8	1034	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	335					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CGTGTACACGGAACTTCCAAA	0.512																																																0			19											220	228	226					19																	55263948		2006	4008	6014	59955760	SO:0001583	missense	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.1003G>C	19.37:g.55263948G>C	ENSP00000342215:p.Glu335Gln		59955760	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460233	0.26248	.	.	ENSG00000243772	ENST00000342376	T	0.00507	6.92	0.909	0.909	0.19332	.	.	.	.	.	T	0.01592	0.0051	M	0.87900	2.915	0.09310	N	1	D;D;D	0.62365	0.968;0.991;0.991	P;D;D	0.73380	0.859;0.98;0.98	T	0.41574	-0.9501	9	0.87932	D	0	.	5.1887	0.15197	0.0:0.0:1.0:0.0	.	237;335;335	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	Q	335	ENSP00000342215:E335Q	ENSP00000342215:E335Q	E	+	1	0	KIR2DL3	59955760	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	1.250000	0.32850	0.786000	0.33708	0.298000	0.19748	GAA		0.512	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			C	55263948	G	C	55263948	3	2	432	1	0	0	0	0	1	0	0	0	8317	1175	41	3	1033	3	KIR2DL3	19	55263948	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09	16446657	55263948	3865035	47	23841											
SLC12A5	57468	genome.wustl.edu	37	20	44683610	44683610	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chr20:44683610G>A	ENST00000454036.2	+	21	2853	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R912H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	935					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGAGCAGCGTTCCCAGATC	0.567																																																0			20											151	124	133					20																	44683610		2203	4300	6503	44117017	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2804G>A	20.37:g.44683610G>A	ENSP00000387694:p.Arg935His		44117017	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960799	0.92791	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.51071	0.72;0.72	4.18	4.18	0.49190	.	0.067578	0.64402	D	0.000019	T	0.71888	0.3393	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.983;0.987	T	0.78117	-0.2329	10	0.59425	D	0.04	.	15.6825	0.77381	0.0:0.0:1.0:0.0	.	935;912	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	935;912	ENSP00000387694:R935H;ENSP00000243964:R912H	ENSP00000243964:R912H	R	+	2	0	SLC12A5	44117017	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.610000	0.98337	2.155000	0.67459	0.462000	0.41574	CGT		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			A	44683610	G	A	44683610	3	1	432	1	0	0	0	0	1	0	0	0	14389	1145	40	1	2942	1	SLC12A5	20	44683610	Missense_Mutation	SNP	G	TCGA-61-1901-01A-01W-0639-09		44683610	18341910	48	23842											
FRMPD4	9758	genome.wustl.edu	37	X	12708328	12708328	+	Silent	SNP	C	C	G			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chrX:12708328C>G	ENST00000380682.1	+	8	1202	c.696C>G	c.(694-696)acC>acG	p.T232T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	232	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCATCTTAACCCTTCAAGAGA	0.458																																																0			X											153	118	130					X																	12708328		2203	4300	6503	12618249	SO:0001819	synonymous_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.696C>G	X.37:g.12708328C>G			12618249	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.458	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		G	12708328	C	G	12708328	2	3	432	1	0	0	0	0	0	0	0	1	6059	610	22	3		3	FRMPD4	23	12708328	Silent	SNP	C	TCGA-61-1901-01A-01W-0639-09		12708328	142562232	49	23843											
GUCY2F	2986	genome.wustl.edu	37	X	108673621	108673621	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1901-01A-01W-0639-09	TCGA-61-1901-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	14779002-3885-4e83-9c90-b5cc9b90a5f1	6393bf53-b679-445c-9c6f-55a90a252a01	g.chrX:108673621T>A	ENST00000218006.2	-	8	1997	c.1706A>T	c.(1705-1707)gAt>gTt	p.D569V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCACACCCAATCACCCTAGAA	0.393																																																0			X											121	121	121					X																	108673621		2203	4300	6503	108560277	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1706A>T	X.37:g.108673621T>A	ENSP00000218006:p.Asp569Val		108560277	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346379	0.61073	.	.	ENSG00000101890	ENST00000218006	T	0.64991	-0.13	4.57	4.57	0.56435	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050124	0.85682	D	0.000000	T	0.65375	0.2685	M	0.81112	2.525	0.80722	D	1	P	0.41710	0.76	B	0.43478	0.421	T	0.67722	-0.5597	10	0.42905	T	0.14	.	9.7488	0.40464	0.0:0.0:0.0:1.0	.	569	P51841	GUC2F_HUMAN	V	569	ENSP00000218006:D569V	ENSP00000218006:D569V	D	-	2	0	GUCY2F	108560277	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.194000	0.51005	1.760000	0.52011	0.486000	0.48141	GAT		0.393	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		A	108673621	T	A	108673621	3	1	432	1	0	0	0	0	1	0	0	0	6898	1435	50	5	1668	5	GUCY2F	23	108673621	Missense_Mutation	SNP	T	TCGA-61-1901-01A-01W-0639-09	95965293	108673621	46596939	50	23844											
SLC44A5	204962	genome.wustl.edu	37	1	75685020	75685020	+	Silent	SNP	C	C	T	rs531608712		TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr1:75685020C>T	ENST00000370855.5	-	16	1301	c.1188G>A	c.(1186-1188)gcG>gcA	p.A396A	SLC44A5_ENST00000535611.1_Silent_p.A266A|SLC44A5_ENST00000370859.3_Silent_p.A396A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	396					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A396A(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCCGATGTCGCCAAGAAAC	0.393													C|||	1	0.000199681	0	0	5008	,	,		17200	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	large_intestine(1)	1											89	83	85					1																	75685020		2203	4300	6503	75457608	SO:0001819	synonymous_variant	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1188G>A	1.37:g.75685020C>T			75457608	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	CCDS667.1																																																																																				0.393	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		T	75685020	C	T	75685020	2	4	433	1	0	0	0	0	0	0	0	1	14642	871	31	1		1	SLC44A5	1	75685020	Silent	SNP	C	TCGA-61-1903-01A-01W-0639-09		75685020	173565601	1	23845											
CDC14A	8556	genome.wustl.edu	37	1	100964497	100964515	+	Frame_Shift_Del	DEL	CTCCCGGCTAGCCAGTTCT	CTCCCGGCTAGCCAGTTCT	-	rs200850931|rs145305805		TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	CTCCCGGCTAGCCAGTTCT	CTCCCGGCTAGCCAGTTCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr1:100964497_100964515delCTCCCGGCTAGCCAGTTCT	ENST00000336454.3	+	15	1789_1807	c.1434_1452delCTCCCGGCTAGCCAGTTCT	c.(1432-1452)aactcccggctagccagttctfs	p.NSRLASS478fs	CDC14A_ENST00000544534.1_Frame_Shift_Del_p.NSRLASS478fs|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.NSRLASS478fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.NSRLASS420fs	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	478					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TTTCCATAAACTCCCGGCTAGCCAGTTCTCTAGGGAACT	0.447																																																0			1																																								100737103	SO:0001589	frameshift_variant	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1434_1452delCTCCCGGCTAGCCAGTTCT	1.37:g.100964497_100964515delCTCCCGGCTAGCCAGTTCT	ENSP00000336739:p.Asn478fs		100737085	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Del	DEL	ENST00000336454.3	37	CCDS769.1																																																																																				0.447	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		-	100964515	CTCCCGGCTAGCCAGTTCT	-	100964497	7	5	433	1	0	1	0	1	0	0	0	0	3056	564	20	0	1507	0	CDC14A	1	100964497	Frame_Shift_Del	DEL	CTCCCGGCTAGCCAGTTCT	TCGA-61-1903-01A-01W-0639-09	25279477	100964497	148286124	2	23846											
PTPN22	26191	genome.wustl.edu	37	1	114380859	114380859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr1:114380859delT	ENST00000359785.5	-	13	1298	c.1163delA	c.(1162-1164)gacfs	p.D388fs	PTPN22_ENST00000528414.1_Frame_Shift_Del_p.D333fs|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Frame_Shift_Del_p.D144fs|PTPN22_ENST00000525799.1_Frame_Shift_Del_p.D261fs|PTPN22_ENST00000420377.2_Frame_Shift_Del_p.D388fs	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	388					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCATTTTTGTCAAAACTGTA	0.398																																																0			1											92	90	90					1																	114380859		2203	4300	6503	114182382	SO:0001589	frameshift_variant	26191			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1163delA	1.37:g.114380859delT	ENSP00000352833:p.Asp388fs		114182382	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Frame_Shift_Del	DEL	ENST00000359785.5	37	CCDS863.1																																																																																				0.398	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		-	114380859	T	-	114380859	7	5	433	1	0	1	0	1	0	0	0	0	12790	1667	58	0	1319	0	PTPN22	1	114380859	Frame_Shift_Del	DEL	T	TCGA-61-1903-01A-01W-0639-09	13416362	114380859	134869762	3	23847											
ADAMTS4	9507	genome.wustl.edu	37	1	161166005	161166005	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr1:161166005T>A	ENST00000367996.5	-	3	1474	c.1046A>T	c.(1045-1047)gAg>gTg	p.E349V	ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_3'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	349	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CCCATCATCCTCCACAATGGC	0.587																																																0			1											106	100	102					1																	161166005		2203	4300	6503	159432629	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1046A>T	1.37:g.161166005T>A	ENSP00000356975:p.Glu349Val		159432629	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419081	0.83559	.	.	ENSG00000158859	ENST00000367996	D	0.87256	-2.23	5.12	5.12	0.69794	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000005	D	0.94719	0.8296	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96062	0.9039	10	0.87932	D	0	.	14.0115	0.64500	0.0:0.0:0.0:1.0	.	349	O75173	ATS4_HUMAN	V	349	ENSP00000356975:E349V	ENSP00000356975:E349V	E	-	2	0	ADAMTS4	159432629	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.124000	0.71620	2.144000	0.66660	0.402000	0.26972	GAG		0.587	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		A	161166005	T	A	161166005	3	1	433	1	0	0	0	0	1	0	0	0	268	1551	54	5	1495	5	ADAMTS4	1	161166005	Missense_Mutation	SNP	T	TCGA-61-1903-01A-01W-0639-09	46785146	161166005	88084616	4	23848											
CACNA1E	777	genome.wustl.edu	37	1	181745244	181745244	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr1:181745244A>G	ENST00000367573.2	+	38	5147	c.5147A>G	c.(5146-5148)aAc>aGc	p.N1716S	CACNA1E_ENST00000367570.1_Missense_Mutation_p.N1716S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.N1323S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.N1697S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.N1667S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.N1697S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.N1648S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1716					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGATGCTCAACCTGTTTGTG	0.557																																																0			1											230	230	230					1																	181745244		2006	4184	6190	180011867	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5147A>G	1.37:g.181745244A>G	ENSP00000356545:p.Asn1716Ser		180011867	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.038290	0.93630	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61	5.83	5.83	0.93111	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.987	D	0.97920	1.0314	10	0.87932	D	0	.	15.8624	0.79035	1.0:0.0:0.0:0.0	.	1697;1716;1716	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	S	1716;1697;1667;1648;1323;1697;1716	ENSP00000356542:N1716S;ENSP00000434814:N1697S;ENSP00000350183:N1667S;ENSP00000351101:N1648S;ENSP00000356539:N1323S;ENSP00000353222:N1697S;ENSP00000356545:N1716S	ENSP00000350183:N1667S	N	+	2	0	CACNA1E	180011867	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.210000	0.95106	2.235000	0.73313	0.533000	0.62120	AAC		0.557	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		G	181745244	A	G	181745244	3	3	433	1	0	0	0	0	1	0	0	0	2542	43	2	4	5297	4	CACNA1E	1	181745244	Missense_Mutation	SNP	A	TCGA-61-1903-01A-01W-0639-09	20579239	181745244	67505377	5	23849											
C1orf74	148304	genome.wustl.edu	37	1	209956631	209956631	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr1:209956631C>A	ENST00000294811.1	-	2	605	c.349G>T	c.(349-351)Gtt>Ttt	p.V117F		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	117										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CAGCTGGAAACATCCACAAAG	0.532																																																0			1											59	55	56					1																	209956631		2203	4300	6503	208023254	SO:0001583	missense	148304			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.349G>T	1.37:g.209956631C>A	ENSP00000294811:p.Val117Phe		208023254		Missense_Mutation	SNP	ENST00000294811.1	37	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939521	0.52972	.	.	ENSG00000162757	ENST00000294811	T	0.66099	-0.19	5.61	4.5	0.54988	.	0.064498	0.64402	D	0.000010	T	0.77123	0.4084	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.79766	-0.1665	10	0.87932	D	0	-3.9708	15.0932	0.72211	0.0:0.9194:0.0:0.0806	.	117	Q96LT6	CA074_HUMAN	F	117	ENSP00000294811:V117F	ENSP00000294811:V117F	V	-	1	0	C1orf74	208023254	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.216000	0.65246	2.652000	0.90054	0.655000	0.94253	GTT		0.532	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		A	209956631	C	A	209956631	3	1	433	1	0	0	0	0	1	0	0	0	2058	478	17	3	464	3	C1orf74	1	209956631	Missense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09	28211387	209956631	39293990	6	23850											
OR2T2	401992	genome.wustl.edu	37	1	248616272	248616272	+	Silent	SNP	A	A	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr1:248616272A>C	ENST00000342927.3	+	1	196	c.174A>C	c.(172-174)acA>acC	p.T58T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTCCACACACCCATGTACT	0.507																																																0			1											97	107	104					1																	248616272		2202	4281	6483	246682895	SO:0001819	synonymous_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.174A>C	1.37:g.248616272A>C			246682895	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	CCDS31116.1																																																																																				0.507	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		C	248616272	A	C	248616272	2	2	433	1	0	0	0	0	0	0	0	1	11020	146	6	5		5	OR2T2	1	248616272	Silent	SNP	A	TCGA-61-1903-01A-01W-0639-09	38659641	248616272	634349	7	23851											
FAHD2B	151313	genome.wustl.edu	37	2	97751583	97751583	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr2:97751583C>A	ENST00000414820.1	-	6	808	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	FAHD2B_ENST00000440566.2_Missense_Mutation_p.A180S|FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Missense_Mutation_p.A180S			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	180							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GCCACGTGGGCCATGGCATCT	0.557																																																0			2											70	69	69					2																	97751583		2203	4297	6500	97115310	SO:0001583	missense	151313				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.538G>T	2.37:g.97751583C>A	ENSP00000410470:p.Ala180Ser		97115310	D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	37	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.399551	0.25291	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.96396	-4.0;-4.0;-4.0	0.624	0.624	0.17659	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.538202	0.19877	N	0.104065	D	0.86322	0.5905	N	0.02708	-0.52	0.24873	N	0.992279	B	0.10296	0.003	B	0.10450	0.005	T	0.78532	-0.2168	10	0.30078	T	0.28	.	7.0501	0.25069	0.0:0.9999:0.0:1.0E-4	.	180	Q6P2I3	FAH2B_HUMAN	S	180	ENSP00000410470:A180S;ENSP00000272610:A180S;ENSP00000444599:A180S	ENSP00000272610:A180S	A	-	1	0	FAHD2B	97115310	1.000000	0.71417	0.949000	0.38748	0.881000	0.50899	0.634000	0.24614	0.587000	0.29643	0.306000	0.20318	GCC		0.557	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		A	97751583	C	A	97751583	3	1	433	1	0	0	0	0	1	0	0	0	5374	739	26	3	422	3	FAHD2B	2	97751583	Missense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09		97751583	145447790	8	23852											
CKAP2L	150468	genome.wustl.edu	37	2	113514249	113514249	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr2:113514249A>C	ENST00000302450.6	-	4	777	c.699T>G	c.(697-699)aaT>aaG	p.N233K	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.N68K	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	233						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GAACAGCACTATTAACTGAAC	0.368																																																0			2											110	113	112					2																	113514249		2203	4299	6502	113230720	SO:0001583	missense	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.699T>G	2.37:g.113514249A>C	ENSP00000305204:p.Asn233Lys		113230720	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.235073	0.58886	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.12879	2.64;3.29	5.0	-3.18	0.05186	.	0.464825	0.20407	N	0.092938	T	0.11537	0.0281	M	0.62723	1.935	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.19289	-1.0310	10	0.45353	T	0.12	-1.8001	6.5916	0.22649	0.3454:0.1656:0.489:0.0	.	233	Q8IYA6	CKP2L_HUMAN	K	68;233	ENSP00000438763:N68K;ENSP00000305204:N233K	ENSP00000305204:N233K	N	-	3	2	CKAP2L	113230720	0.000000	0.05858	0.000000	0.03702	0.975000	0.68041	-0.568000	0.05909	-0.409000	0.07553	0.477000	0.44152	AAT		0.368	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		C	113514249	A	C	113514249	3	2	433	1	0	0	0	0	1	0	0	0	3443	446	16	5	1562	5	CKAP2L	2	113514249	Missense_Mutation	SNP	A	TCGA-61-1903-01A-01W-0639-09	15762666	113514249	129685124	9	23853											
LY75	4065	genome.wustl.edu	37	2	160755339	160755339	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr2:160755339T>G	ENST00000263636.4	-	2	353	c.326A>C	c.(325-327)aAa>aCa	p.K109T	LY75_ENST00000553424.1_Missense_Mutation_p.K109T|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K109T|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K109T|LY75_ENST00000554112.1_Missense_Mutation_p.K109T	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	109	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTGCTCACATTTCCACCACAG	0.498																																																0			2											97	86	90					2																	160755339		2203	4300	6503	160463585	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.326A>C	2.37:g.160755339T>G	ENSP00000263636:p.Lys109Thr		160463585	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.440014	0.63067	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.92	5.92	0.95590	Ricin B-related lectin (1);Ricin B lectin (1);	0.000000	0.37437	N	0.002095	T	0.61123	0.2322	M	0.77820	2.39	0.39896	D	0.973839	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.983;0.94;0.998	T	0.67647	-0.5617	10	0.66056	D	0.02	-25.4612	6.3377	0.21304	0.0:0.1893:0.0:0.8107	.	109;109;109	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	T	109	ENSP00000451511:K109T;ENSP00000451446:K109T;ENSP00000263636:K109T;ENSP00000423463:K109T;ENSP00000421035:K109T	ENSP00000423463:K109T	K	-	2	0	LY75;LY75-CD302	160463585	1.000000	0.71417	0.996000	0.52242	0.586000	0.36452	3.090000	0.50191	2.274000	0.75844	0.533000	0.62120	AAA		0.498	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			G	160755339	T	G	160755339	3	3	433	1	0	0	0	0	1	0	0	0	9099	1841	64	5	4978	5	LY75	2	160755339	Missense_Mutation	SNP	T	TCGA-61-1903-01A-01W-0639-09	47241090	160755339	82444034	10	23854											
XIRP2	129446	genome.wustl.edu	37	2	168099401	168099401	+	Missense_Mutation	SNP	G	G	A	rs201393718	byFrequency	TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr2:168099401G>A	ENST00000409195.1	+	9	1588	c.1499G>A	c.(1498-1500)cGt>cAt	p.R500H	XIRP2_ENST00000409273.1_Missense_Mutation_p.R278H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R500H|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	325					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAATTAAACCGTTTATATAAA	0.368													G|||	4	0.000798722	0	0	5008	,	,		19370	0.003		0	False		,,,				2504	0.001															0			2											40	38	39					2																	168099401		1803	4066	5869	167807647	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1499G>A	2.37:g.168099401G>A	ENSP00000386840:p.Arg500His		167807647	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.1	4.378569	0.82682	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.19669	2.17;2.17;2.13	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.35101	-0.9802	10	0.87932	D	0	-10.015	13.75	0.62901	0.0757:0.0:0.9243:0.0	.	325;325;278	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	500;500;278	ENSP00000386840:R500H;ENSP00000295237:R500H;ENSP00000387255:R278H	ENSP00000295237:R500H	R	+	2	0	XIRP2	167807647	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.222000	0.58580	2.615000	0.88500	0.655000	0.94253	CGT		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168099401	G	A	168099401	3	1	433	1	0	0	0	0	1	0	0	0	17430	1145	40	1	1529	1	XIRP2	2	168099401	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09	7344062	168099401	75099972	11	23855											
CPS1	1373	genome.wustl.edu	37	2	211441215	211441215	+	Splice_Site	SNP	G	G	A			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr2:211441215G>A	ENST00000233072.5	+	3	577		c.e3+1		CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGAATCAAGGTAGTACCAGT	0.408																																																0			2											126	120	122					2																	211441215		2203	4300	6503	211149460	SO:0001630	splice_region_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.381+1G>A	2.37:g.211441215G>A			211149460	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333994	0.60853	.	.	ENSG00000021826	ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	.	.	.	5.97	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4425	0.83906	0.0:0.0:0.8676:0.1324	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211149460	1.000000	0.71417	0.992000	0.48379	0.657000	0.38888	9.188000	0.94921	1.493000	0.48517	0.655000	0.94253	.		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron	A	211441215	G	A	211441215	5	1	433	1	0	0	0	0	0	0	1	0	3823	1275	44	2	414	2	CPS1	2	211441215	Splice_Site	SNP	G	TCGA-61-1903-01A-01W-0639-09	43341814	211441215	31758158	12	23856											
EOMES	8320	genome.wustl.edu	37	3	27759225	27759225	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr3:27759225G>T	ENST00000295743.4	-	6	1600	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H	EOMES_ENST00000449599.1_Missense_Mutation_p.P485H|EOMES_ENST00000537516.1_Missense_Mutation_p.P190H|EOMES_ENST00000461503.1_5'Flank			O95936	EOMES_HUMAN	eomesodermin	466					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCGACCTCCAGGGACAATCTG	0.478																																																0			3											55	59	58					3																	27759225		2203	4300	6503	27734229	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1397C>A	3.37:g.27759225G>T	ENSP00000295743:p.Pro466His		27734229	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957747	0.73902	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.90620	-2.16;-2.7;-2.23	5.1	5.1	0.69264	.	2.716050	0.02170	N	0.059586	D	0.96399	0.8825	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.984;1.0;0.999	D	0.87111	0.2185	10	0.59425	D	0.04	.	19.4135	0.94685	0.0:0.0:1.0:0.0	.	199;485;466	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	H	466;485;190;350	ENSP00000295743:P466H;ENSP00000388620:P485H;ENSP00000442097:P190H	ENSP00000295743:P466H	P	-	2	0	EOMES	27734229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.769000	0.95229	0.655000	0.94253	CCT		0.478	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		T	27759225	G	T	27759225	3	4	433	1	0	0	0	0	1	0	0	0	5147	1000	35	3	667	3	EOMES	3	27759225	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09		27759225	170263205	13	23857											
TGM4	7047	genome.wustl.edu	37	3	44943145	44943145	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr3:44943145G>C	ENST00000296125.4	+	7	855	c.787G>C	c.(787-789)Gtg>Ctg	p.V263L	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	263					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GAAGCAGGCTGTGTGCTTTGG	0.592																																																0			3											125	117	119					3																	44943145		2203	4300	6503	44918149	SO:0001583	missense	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.787G>C	3.37:g.44943145G>C	ENSP00000296125:p.Val263Leu		44918149	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813754	0.70912	.	.	ENSG00000163810	ENST00000296125	T	0.52057	0.68	2.69	2.69	0.31865	Transglutaminase-like (2);	0.000000	0.39985	U	0.001202	T	0.74703	0.3751	M	0.93420	3.415	0.49130	D	0.999754	D	0.89917	1.0	D	0.83275	0.996	T	0.83180	-0.0089	10	0.87932	D	0	.	14.1159	0.65154	0.0:0.0:1.0:0.0	.	263	P49221	TGM4_HUMAN	L	263	ENSP00000296125:V263L	ENSP00000296125:V263L	V	+	1	0	TGM4	44918149	0.998000	0.40836	0.001000	0.08648	0.010000	0.07245	3.471000	0.53107	1.434000	0.47414	0.563000	0.77884	GTG		0.592	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		C	44943145	G	C	44943145	3	2	433	1	0	0	0	0	1	0	0	0	15832	1377	48	3	813	3	TGM4	3	44943145	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09	17183920	44943145	153079285	14	23858											
MTTP	4547	genome.wustl.edu	37	4	100534180	100534180	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr4:100534180G>T	ENST00000265517.5	+	15	2303	c.2100G>T	c.(2098-2100)caG>caT	p.Q700H	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.Q700H|MTTP_ENST00000511045.1_Missense_Mutation_p.Q727H			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	700					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTGATGTTCAGCTCAGACCTG	0.502																																																0			4											194	175	181					4																	100534180		2203	4300	6503	100753203	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2100G>T	4.37:g.100534180G>T	ENSP00000265517:p.Gln700His		100753203	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735953	0.49045	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.64803	-0.12;-0.1;-0.1	5.3	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	M	0.70275	2.135	0.58432	D	0.99999	P;P	0.41159	0.74;0.69	B;B	0.42959	0.403;0.225	T	0.58792	-0.7574	10	0.54805	T	0.06	-25.8166	9.5121	0.39082	0.422:0.0:0.578:0.0	.	727;700	E9PBP6;P55157	.;MTP_HUMAN	H	727;700;700	ENSP00000427679:Q727H;ENSP00000400821:Q700H;ENSP00000265517:Q700H	ENSP00000265517:Q700H	Q	+	3	2	MTTP	100753203	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.257000	0.32932	0.003000	0.14656	-0.225000	0.12378	CAG		0.502	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			T	100534180	G	T	100534180	3	4	433	1	0	0	0	0	1	0	0	0	9964	962	34	3	2158	3	MTTP	4	100534180	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09		100534180	90620096	15	23859											
FBXW7	55294	genome.wustl.edu	37	4	153273826	153273826	+	Intron	SNP	A	A	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr4:153273826A>C	ENST00000281708.4	-	3	1731				FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000263981.5_Silent_p.V19V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCGGCAACAAAACTCCACAGT	0.443			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	0			4											73	69	70					4																	153273826		2203	4300	6503	153493276	SO:0001627	intron_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.502-2550T>G	4.37:g.153273826A>C			153493276	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.443	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			C	153273826	A	C	153273826	1	2	433	0	1	0	0	0	0	0	0	0	5769	1	1	5		5	FBXW7	4	153273826	Intron	SNP	A	TCGA-61-1903-01A-01W-0639-09	52739646	153273826	37880450	16	23860											
MTMR12	54545	genome.wustl.edu	37	5	32243641	32243641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr5:32243641C>T	ENST00000382142.3	-	11	1256	c.1086G>A	c.(1084-1086)tgG>tgA	p.W362*	MTMR12_ENST00000264934.5_Nonsense_Mutation_p.W362*|MTMR12_ENST00000280285.5_Nonsense_Mutation_p.W362*	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	362	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTATGTCAAGCCAGCTGCTAC	0.328																																																0			5											105	106	106					5																	32243641		2203	4300	6503	32279398	SO:0001587	stop_gained	54545			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1086G>A	5.37:g.32243641C>T	ENSP00000371577:p.Trp362*		32279398	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Nonsense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.419732	0.97550	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	362	.	ENSP00000264934:W362X	W	-	3	0	MTMR12	32279398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.190000	0.72057	2.793000	0.96121	0.655000	0.94253	TGG		0.328	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		T	32243641	C	T	32243641	4	4	433	1	0	0	0	0	0	1	0	0	9941	740	26	2	1181	2	MTMR12	5	32243641	Nonsense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09		32243641	148671619	17	23861											
AGXT2	64902	genome.wustl.edu	37	5	35033638	35033638	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr5:35033638C>G	ENST00000231420.6	-	6	802	c.602G>C	c.(601-603)aGt>aCt	p.S201T	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	201					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TGTGTAAGGACTGCATCCATG	0.493																																																0			5											94	79	84					5																	35033638		2203	4300	6503	35069395	SO:0001583	missense	64902			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.602G>C	5.37:g.35033638C>G	ENSP00000231420:p.Ser201Thr		35069395	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632214	0.67015	.	.	ENSG00000113492	ENST00000231420	D	0.82081	-1.57	5.71	4.79	0.61399	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.076452	0.85682	D	0.000000	T	0.69369	0.3103	N	0.04018	-0.295	0.42812	D	0.993967	B;P;P	0.41597	0.149;0.756;0.478	B;P;B	0.44647	0.173;0.456;0.078	T	0.68051	-0.5511	10	0.11182	T	0.66	-4.6034	16.5233	0.84322	0.0:0.8695:0.1305:0.0	.	109;201;201	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	T	201	ENSP00000231420:S201T	ENSP00000231420:S201T	S	-	2	0	AGXT2	35069395	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	4.585000	0.60977	2.861000	0.98227	0.650000	0.86243	AGT		0.493	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		G	35033638	C	G	35033638	3	3	433	1	0	0	0	0	1	0	0	0	405	565	20	3	978	3	AGXT2	5	35033638	Missense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09	2789997	35033638	145881622	18	23862											
SH3TC2	79628	genome.wustl.edu	37	5	148392159	148392159	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr5:148392159C>A	ENST00000515425.1	-	13	3293	c.3192G>T	c.(3190-3192)gaG>gaT	p.E1064D	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E1057D|SH3TC2_ENST00000538184.1_Missense_Mutation_p.E611D	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1064					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCACAGCTCCACCAGCT	0.592																																																0			5											51	52	51					5																	148392159		2203	4300	6503	148372352	SO:0001583	missense	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3192G>T	5.37:g.148392159C>A	ENSP00000423660:p.Glu1064Asp		148372352	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	7.139	0.581414	0.13686	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049	T;T;T	0.76448	-0.99;-1.02;-0.99	5.67	1.32	0.21799	Tetratricopeptide-like helical (1);	0.066286	0.64402	D	0.000015	T	0.51466	0.1676	N	0.16166	0.38	0.80722	D	1	P;B;P	0.38617	0.64;0.391;0.64	B;B;B	0.34038	0.174;0.115;0.174	T	0.40627	-0.9553	10	0.13108	T	0.6	-17.6995	6.5013	0.22170	0.0:0.5297:0.134:0.3362	.	1057;1064;1064	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	D	611;1064;1057	ENSP00000441427:E611D;ENSP00000423660:E1064D;ENSP00000421860:E1057D	ENSP00000425627:E1064D	E	-	3	2	SH3TC2	148372352	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.722000	0.25925	0.721000	0.32231	0.655000	0.94253	GAG		0.592	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		A	148392159	C	A	148392159	3	1	433	1	0	0	0	0	1	0	0	0	14265	796	28	3	694	3	SH3TC2	5	148392159	Missense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09	113358521	148392159	32523101	19	23863											
FARS2	10667	genome.wustl.edu	37	6	5771610	5771610	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr6:5771610A>T	ENST00000324331.6	+	7	1640	c.1304A>T	c.(1303-1305)cAg>cTg	p.Q435L	FARS2_ENST00000274680.4_Missense_Mutation_p.Q435L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	435	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CACATCCACCAGGCCTTGCAG	0.597																																																0			6											159	127	138					6																	5771610		2203	4300	6503	5716609	SO:0001583	missense	10667			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	21062	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 2, mitochondrial"	611592	"phenylalanine-tRNA synthetase 1 (mitochondrial)"	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1304A>T	6.37:g.5771610A>T	ENSP00000316335:p.Gln435Leu		5716609	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494191	0.44352	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.77877	-1.13;-1.13	5.81	5.81	0.92471	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.411796	0.22913	N	0.054104	T	0.51550	0.1681	N	0.19112	0.55	0.40671	D	0.982211	B	0.25743	0.133	B	0.19148	0.024	T	0.54423	-0.8296	10	0.37606	T	0.19	-33.9882	14.9939	0.71415	1.0:0.0:0.0:0.0	.	435	O95363	SYFM_HUMAN	L	435	ENSP00000274680:Q435L;ENSP00000316335:Q435L	ENSP00000274680:Q435L	Q	+	2	0	FARS2	5716609	0.999000	0.42202	1.000000	0.80357	0.919000	0.55068	1.002000	0.29796	2.217000	0.71921	0.533000	0.62120	CAG		0.597	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		T	5771610	A	T	5771610	3	4	433	1	0	0	0	0	1	0	0	0	5678	188	7	5	1326	5	FARS2	6	5771610	Missense_Mutation	SNP	A	TCGA-61-1903-01A-01W-0639-09		5771610	165343457	20	23864											
SAMD3	154075	genome.wustl.edu	37	6	130476019	130476019	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr6:130476019G>A	ENST00000368134.2	-	11	1582	c.974C>T	c.(973-975)cCt>cTt	p.P325L	SAMD3_ENST00000457563.2_Missense_Mutation_p.P349L|SAMD3_ENST00000439090.2_Missense_Mutation_p.P325L|SAMD3_ENST00000437477.2_Missense_Mutation_p.P325L	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	325										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTCCTTCAGAGGTGTTCGGCT	0.353																																																0			6											116	105	109					6																	130476019		2203	4300	6503	130517712	SO:0001583	missense	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.974C>T	6.37:g.130476019G>A	ENSP00000357116:p.Pro325Leu		130517712	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739537	0.49045	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.61274	0.17;0.12;0.17;0.17	5.74	4.88	0.63580	.	0.172827	0.41823	D	0.000802	T	0.49253	0.1546	M	0.64997	1.995	0.80722	D	1	D	0.55605	0.972	P	0.46543	0.52	T	0.59118	-0.7514	10	0.87932	D	0	.	13.1904	0.59706	0.0735:0.0:0.9265:0.0	.	325	Q8N6K7	SAMD3_HUMAN	L	325;349;325;325	ENSP00000357116:P325L;ENSP00000402092:P349L;ENSP00000403565:P325L;ENSP00000391163:P325L	ENSP00000357116:P325L	P	-	2	0	SAMD3	130517712	1.000000	0.71417	0.946000	0.38457	0.904000	0.53231	4.509000	0.60448	1.572000	0.49736	0.563000	0.77884	CCT		0.353	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		A	130476019	G	A	130476019	3	1	433	1	0	0	0	0	1	0	0	0	13823	1000	35	2	604	2	SAMD3	6	130476019	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09	124704409	130476019	40639048	21	23865											
RBM16	22828	genome.wustl.edu	37	6	155153521	155153521	+	Silent	SNP	G	G	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr6:155153521G>T	ENST00000367178.3	+	20	3384	c.2808G>T	c.(2806-2808)ggG>ggT	p.G936G	SCAF8_ENST00000367186.4_Silent_p.G1002G|TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000417268.1_Silent_p.G936G	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	936	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGGCACCTGGGCCAAGATTCC	0.512																																																0			6											153	165	161					6																	155153521		2203	4300	6503	155195213	SO:0001819	synonymous_variant	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2808G>T	6.37:g.155153521G>T			155195213	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	CCDS5247.1																																																																																				0.512	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		T	155153521	G	T	155153521	2	4	433	1	0	0	0	0	0	0	0	1	13121	1190	42	3		3	RBM16	6	155153521	Silent	SNP	G	TCGA-61-1903-01A-01W-0639-09	24677502	155153521	15961546	22	23866											
BZW2	28969	genome.wustl.edu	37	7	16737809	16737809	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr7:16737809A>T	ENST00000433922.2	+	10	1284	c.1106A>T	c.(1105-1107)aAa>aTa	p.K369I	BZW2_ENST00000258761.3_Missense_Mutation_p.K369I|BZW2_ENST00000407633.1_Missense_Mutation_p.K175I|BZW2_ENST00000405202.1_Missense_Mutation_p.K293I|AC073333.8_ENST00000418907.1_RNA	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	369	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CTCTTTTATAAAGGTATCCAT	0.488																																																0			7											147	146	147					7																	16737809		2203	4300	6503	16704334	SO:0001583	missense	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.1106A>T	7.37:g.16737809A>T	ENSP00000397249:p.Lys369Ile		16704334	A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724863	0.89298	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	6.17	6.17	0.99709	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	M	0.91768	3.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.93351	0.6718	10	0.72032	D	0.01	0.0048	16.8222	0.85835	1.0:0.0:0.0:0.0	.	369;369	E7ETZ4;Q9Y6E2	.;BZW2_HUMAN	I	369;369;369;293;175	ENSP00000403481:K369I;ENSP00000258761:K369I;ENSP00000397249:K369I;ENSP00000385577:K293I;ENSP00000384617:K175I	ENSP00000258761:K369I	K	+	2	0	BZW2	16704334	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAA		0.488	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		T	16737809	A	T	16737809	3	4	433	1	0	0	0	0	1	0	0	0	1579	14	1	5	1140	5	BZW2	7	16737809	Missense_Mutation	SNP	A	TCGA-61-1903-01A-01W-0639-09		16737809	142400854	23	23867											
CALN1	83698	genome.wustl.edu	37	7	71488739	71488739	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr7:71488739T>C	ENST00000329008.5	-	4	576	c.278A>G	c.(277-279)gAt>gGt	p.D93G	CALN1_ENST00000395276.2_Missense_Mutation_p.D93G|CALN1_ENST00000412588.1_Missense_Mutation_p.D135G|CALN1_ENST00000405452.2_Missense_Mutation_p.D93G|CALN1_ENST00000395275.2_Missense_Mutation_p.D135G|CALN1_ENST00000431984.1_Missense_Mutation_p.D93G	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	93	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TTCATCAAAATCCACCTGGCC	0.458																																																0			7											118	100	106					7																	71488739		2203	4300	6503	71126675	SO:0001583	missense	83698			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.278A>G	7.37:g.71488739T>C	ENSP00000332498:p.Asp93Gly		71126675	J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631642	0.67015	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.87	5.87	0.94306	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.76170	2.325	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.17979	0.02;0.02	T	0.70513	-0.4851	10	0.87932	D	0	-29.5575	14.5226	0.67863	0.0:0.0:0.0:1.0	.	93;93	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	G	93;135;93;93;135;93;93	ENSP00000332498:D93G;ENSP00000378690:D135G;ENSP00000378691:D93G;ENSP00000410704:D93G;ENSP00000391882:D135G;ENSP00000384354:D93G;ENSP00000411806:D93G	ENSP00000332498:D93G	D	-	2	0	CALN1	71126675	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.305000	0.78891	2.371000	0.80710	0.533000	0.62120	GAT		0.458	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		C	71488739	T	C	71488739	3	2	433	1	0	0	0	0	1	0	0	0	2591	1435	50	4	393	4	CALN1	7	71488739	Missense_Mutation	SNP	T	TCGA-61-1903-01A-01W-0639-09	54750930	71488739	87649924	24	23868											
MAGI2	9863	genome.wustl.edu	37	7	77756681	77756681	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr7:77756681G>C	ENST00000354212.4	-	19	3509	c.3256C>G	c.(3256-3258)Cct>Gct	p.P1086A	MAGI2_ENST00000419488.1_Missense_Mutation_p.P1072A|MAGI2_ENST00000522391.1_Missense_Mutation_p.P1086A	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1086	Pro-rich.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGAATGGAGGCTGTCGGATG	0.527																																																0			7											121	105	110					7																	77756681		2203	4300	6503	77594617	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3256C>G	7.37:g.77756681G>C	ENSP00000346151:p.Pro1086Ala		77594617	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295578	0.81025	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.10668	2.93;2.94;2.85	5.19	5.19	0.71726	.	0.000000	0.36482	U	0.002562	T	0.22085	0.0532	L	0.32530	0.975	0.80722	D	1	D;P;D	0.76494	0.999;0.856;0.999	D;P;D	0.80764	0.986;0.62;0.994	T	0.05131	-1.0904	10	0.12430	T	0.62	.	19.0671	0.93116	0.0:0.0:1.0:0.0	.	1086;1072;1086	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	A	1072;1086;1086;1086	ENSP00000405766:P1072A;ENSP00000346151:P1086A;ENSP00000428389:P1086A	ENSP00000346151:P1086A	P	-	1	0	MAGI2	77594617	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.556000	0.86216	0.655000	0.94253	CCT		0.527	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		C	77756681	G	C	77756681	3	2	433	1	0	0	0	0	1	0	0	0	9191	1203	42	3	1127	3	MAGI2	7	77756681	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09	6267942	77756681	81381982	25	23869											
NUP98	4928	genome.wustl.edu	37	11	3704657	3704657	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr11:3704657G>T	ENST00000324932.7	-	30	5111	c.4691C>A	c.(4690-4692)gCt>gAt	p.A1564D	NUP98_ENST00000355260.3_Missense_Mutation_p.A1490D|NUP98_ENST00000359171.4_Missense_Mutation_p.A1490D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1581					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTCTCGAACAGCCTTCTCACG	0.537			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0			11											73	72	72					11																	3704657		2201	4298	6499	3661233	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4691C>A	11.37:g.3704657G>T	ENSP00000316032:p.Ala1564Asp		3661233	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859246	0.91433	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.87	5.87	0.94306	.	0.057960	0.64402	D	0.000002	D	0.82884	0.5134	M	0.78285	2.405	0.43007	D	0.99453	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.91635	0.999;0.998;0.925	T	0.82398	-0.0477	9	0.48119	T	0.1	-11.6672	19.2648	0.93982	0.0:0.0:1.0:0.0	.	1490;1564;1478	P52948-2;P52948-5;P52948-6	.;.;.	D	1564;1490;1490	.	ENSP00000316032:A1564D	A	-	2	0	NUP98	3661233	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.530000	0.98051	2.808000	0.96608	0.650000	0.86243	GCT		0.537	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		T	3704657	G	T	3704657	3	4	433	1	0	0	0	0	1	0	0	0	10773	971	34	3	727	3	NUP98	11	3704657	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09		3704657	131301859	26	23870											
OR5AP2	338675	genome.wustl.edu	37	11	56408996	56408996	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr11:56408996A>T	ENST00000302981.1	-	1	919	c.920T>A	c.(919-921)cTa>cAa	p.L307Q	OR5AP2_ENST00000544374.1_Missense_Mutation_p.L308Q	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GATCTTCTTTAGGGCCTTTTT	0.338																																																0			11											79	77	77					11																	56408996		2201	4296	6497	56165572	SO:0001583	missense	338675			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.920T>A	11.37:g.56408996A>T	ENSP00000303111:p.Leu307Gln		56165572	B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	A	5.882	0.346900	0.11126	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.48522	0.81;0.81	4.94	4.94	0.65067	.	0.393075	0.18469	N	0.140271	T	0.67316	0.2880	H	0.97240	3.965	0.09310	N	1	P	0.49447	0.924	B	0.44085	0.44	T	0.72187	-0.4366	10	0.87932	D	0	.	13.7369	0.62824	1.0:0.0:0.0:0.0	.	307	Q8NGF4	O5AP2_HUMAN	Q	308;307	ENSP00000442701:L308Q;ENSP00000303111:L307Q	ENSP00000303111:L307Q	L	-	2	0	OR5AP2	56165572	0.352000	0.24895	0.006000	0.13384	0.185000	0.23345	5.056000	0.64287	2.090000	0.63153	0.519000	0.50382	CTA		0.338	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		T	56408996	A	T	56408996	3	4	433	1	0	0	0	0	1	0	0	0	11144	420	15	5	34	5	OR5AP2	11	56408996	Missense_Mutation	SNP	A	TCGA-61-1903-01A-01W-0639-09	52704339	56408996	78597520	27	23871											
SYVN1	84447	genome.wustl.edu	37	11	64899001	64899001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr11:64899001G>A	ENST00000377190.3	-	7	692	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	SYVN1_ENST00000294256.8_Nonsense_Mutation_p.Q200*|SYVN1_ENST00000307289.6_Nonsense_Mutation_p.Q149*|SYVN1_ENST00000526121.1_5'UTR|SYVN1_ENST00000526060.1_Nonsense_Mutation_p.Q200*	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	200					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TTCTCACTCTGGAGGTCCACG	0.552																																																0			11											119	96	104					11																	64899001		2201	4297	6498	64655577	SO:0001587	stop_gained	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.598C>T	11.37:g.64899001G>A	ENSP00000366395:p.Gln200*		64655577	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Nonsense_Mutation	SNP	ENST00000377190.3	37	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952383	0.73787	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060;ENST00000531018;ENST00000528487	.	.	.	4.49	4.49	0.54785	.	0.127611	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-16.837	14.7344	0.69406	0.0:0.0:1.0:0.0	.	.	.	.	X	200;200;200;149;200;140;185	.	ENSP00000294256:Q200X	Q	-	1	0	SYVN1	64655577	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.288000	0.78691	2.321000	0.78463	0.563000	0.77884	CAG		0.552	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		A	64899001	G	A	64899001	4	1	433	1	0	0	0	0	0	1	0	0	15487	1357	47	2	1295	2	SYVN1	11	64899001	Nonsense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09	8490005	64899001	70107515	28	23872											
GDF3	9573	genome.wustl.edu	37	12	7842853	7842853	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr12:7842853T>C	ENST00000329913.3	-	2	763	c.716A>G	c.(715-717)aAc>aGc	p.N239S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	239					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTGATCAGGGTTGAGAGTCAC	0.512																																																0			12											103	94	97					12																	7842853		2203	4300	6503	7734120	SO:0001583	missense	9573			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.716A>G	12.37:g.7842853T>C	ENSP00000331745:p.Asn239Ser		7734120	Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	T	8.120	0.780634	0.16120	.	.	ENSG00000184344	ENST00000329913	T	0.80653	-1.4	4.61	3.38	0.38709	.	0.813996	0.11942	N	0.514570	T	0.69424	0.3109	L	0.43554	1.36	0.34659	D	0.722436	B	0.28378	0.209	B	0.20577	0.03	T	0.66913	-0.5803	10	0.13470	T	0.59	.	9.3286	0.38008	0.1603:0.0:0.0:0.8397	.	239	Q9NR23	GDF3_HUMAN	S	239	ENSP00000331745:N239S	ENSP00000331745:N239S	N	-	2	0	GDF3	7734120	0.998000	0.40836	0.608000	0.28969	0.035000	0.12851	1.296000	0.33389	1.854000	0.53819	0.459000	0.35465	AAC		0.512	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			C	7842853	T	C	7842853	3	2	433	1	0	0	0	0	1	0	0	0	6315	1725	60	4	382	4	GDF3	12	7842853	Missense_Mutation	SNP	T	TCGA-61-1903-01A-01W-0639-09		7842853	126009042	29	23873											
SUOX	6821	genome.wustl.edu	37	12	56398614	56398614	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr12:56398614C>T	ENST00000394109.3	+	3	2165	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	SUOX_ENST00000356124.4_Missense_Mutation_p.R481C|SUOX_ENST00000266971.3_Missense_Mutation_p.R481C|IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000394115.2_Missense_Mutation_p.R481C|SUOX_ENST00000548274.1_Missense_Mutation_p.R481C			P51687	SUOX_HUMAN	sulfite oxidase	481	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGAGGAACAGCGCCCCAGGAA	0.582																																																0			12											190	169	177					12																	56398614		2203	4300	6503	54684881	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1441C>T	12.37:g.56398614C>T	ENSP00000377668:p.Arg481Cys		54684881		Missense_Mutation	SNP	ENST00000394109.3	37	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	9.152	1.016504	0.19355	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	4.76	-0.756	0.11057	Immunoglobulin E-set (1);Moybdenum cofactor oxidoreductase, dimerisation (2);	0.694992	0.14311	N	0.327669	T	0.73241	0.3562	L	0.58510	1.815	0.21762	N	0.999551	B	0.11235	0.004	B	0.15484	0.013	T	0.61917	-0.6964	10	0.51188	T	0.08	-27.6409	1.0504	0.01578	0.1508:0.3511:0.1469:0.3512	.	481	P51687	SUOX_HUMAN	C	481	ENSP00000348440:R481C;ENSP00000266971:R481C;ENSP00000377674:R481C;ENSP00000450245:R481C;ENSP00000377668:R481C	ENSP00000266971:R481C	R	+	1	0	SUOX	54684881	0.000000	0.05858	0.198000	0.23420	0.883000	0.51084	-1.210000	0.02999	0.036000	0.15547	0.467000	0.42956	CGC		0.582	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		T	56398614	C	T	56398614	3	4	433	1	0	0	0	0	1	0	0	0	15395	768	27	1	1451	1	SUOX	12	56398614	Missense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09	48555761	56398614	77453281	30	23874											
BRCA2	675	genome.wustl.edu	37	13	32914221	32914221	+	Missense_Mutation	SNP	A	A	G	rs276174863		TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr13:32914221A>G	ENST00000380152.3	+	11	5962	c.5729A>G	c.(5728-5730)aAt>aGt	p.N1910S	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1910S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1910					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTCTAGATAATGATGAATGT	0.338			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0			13											57	55	56					13																	32914221		2203	4300	6503	31812221	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5729A>G	13.37:g.32914221A>G	ENSP00000369497:p.Asn1910Ser		31812221	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.211861	0.00289	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.66815	-0.23;-0.23	5.17	-3.44	0.04796	.	2.496540	0.01257	N	0.009041	T	0.45196	0.1330	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13683	-1.0500	10	0.28530	T	0.3	.	3.5787	0.07943	0.353:0.373:0.1861:0.0879	.	1910	P51587	BRCA2_HUMAN	S	1910	ENSP00000369497:N1910S;ENSP00000439902:N1910S	ENSP00000369497:N1910S	N	+	2	0	BRCA2	31812221	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.686000	0.05161	-1.312000	0.02306	-1.162000	0.01777	AAT		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		G	32914221	A	G	32914221	3	3	433	1	0	0	0	0	1	0	0	0	1499	101	4	4	5767	4	BRCA2	13	32914221	Missense_Mutation	SNP	A	TCGA-61-1903-01A-01W-0639-09		32914221	82255657	31	23875											
C14orf101	54916	genome.wustl.edu	37	14	57082679	57082679	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr14:57082679T>C	ENST00000261556.6	+	8	997	c.875T>C	c.(874-876)aTg>aCg	p.M292T	TMEM260_ENST00000538838.1_Missense_Mutation_p.M292T|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	292						integral component of membrane (GO:0016021)											GTAACAAATATGAGGACCGAA	0.318																																																0			14											128	133	131					14																	57082679		2203	4299	6502	56152432	SO:0001583	missense	54916			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.875T>C	14.37:g.57082679T>C	ENSP00000261556:p.Met292Thr		56152432	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	T	13.55	2.269293	0.40095	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.43688	1.49;0.94	5.89	5.89	0.94794	.	0.161870	0.64402	D	0.000003	T	0.42449	0.1203	M	0.65975	2.015	0.80722	D	1	P	0.48230	0.907	B	0.41036	0.346	T	0.36261	-0.9755	10	0.27082	T	0.32	-12.7519	13.8303	0.63377	0.0:0.0:0.0:1.0	.	292	Q9NX78	CN101_HUMAN	T	292	ENSP00000261556:M292T;ENSP00000441934:M292T	ENSP00000261556:M292T	M	+	2	0	C14orf101	56152432	1.000000	0.71417	0.996000	0.52242	0.300000	0.27592	4.158000	0.58150	2.250000	0.74265	0.477000	0.44152	ATG		0.318	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		C	57082679	T	C	57082679	3	2	433	1	0	0	0	0	1	0	0	0	1734	1464	51	4	905	4	C14orf101	14	57082679	Missense_Mutation	SNP	T	TCGA-61-1903-01A-01W-0639-09		57082679	50266861	32	23876											
NEK9	91754	genome.wustl.edu	37	14	75555217	75555217	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr14:75555217G>T	ENST00000238616.5	-	20	2728	c.2570C>A	c.(2569-2571)gCt>gAt	p.A857D		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	857	Interaction with NEK6.|Pro/Ser/Thr-rich.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TTCCAAAGGAGCTTCAGAGGC	0.488											OREG0022811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			14											135	132	133					14																	75555217		2203	4300	6503	74624970	SO:0001583	missense	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2570C>A	14.37:g.75555217G>T	ENSP00000238616:p.Ala857Asp	1161	74624970	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935933	0.34189	.	.	ENSG00000119638	ENST00000238616	T	0.71103	-0.54	6.17	4.27	0.50696	.	0.571046	0.19124	N	0.122089	T	0.49541	0.1563	N	0.14661	0.345	0.22842	N	0.998664	B;B	0.24186	0.099;0.05	B;B	0.29176	0.04;0.099	T	0.35375	-0.9791	10	0.12766	T	0.61	.	6.9771	0.24681	0.1346:0.0:0.7059:0.1595	.	857;200	Q8TD19;Q6PKF2	NEK9_HUMAN;.	D	857	ENSP00000238616:A857D	ENSP00000238616:A857D	A	-	2	0	NEK9	74624970	0.877000	0.30153	0.047000	0.18901	0.982000	0.71751	2.803000	0.47924	0.831000	0.34780	0.655000	0.94253	GCT		0.488	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		T	75555217	G	T	75555217	3	4	433	1	0	0	0	0	1	0	0	0	10331	971	34	3	381	3	NEK9	14	75555217	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09	18472538	75555217	31794323	33	23877											
PTPN21	11099	genome.wustl.edu	37	14	88967714	88967714	+	Splice_Site	SNP	T	T	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr14:88967714T>C	ENST00000556564.1	-	7	872		c.e7-2		PTPN21_ENST00000554628.1_Splice_Site|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Splice_Site	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTGAGCCCTCTGCAACCCAAA	0.403																																																0			14											123	122	122					14																	88967714		2203	4300	6503	88037467	SO:0001630	splice_region_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.588-2A>G	14.37:g.88967714T>C			88037467		Splice_Site	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.985389	0.53934	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0059	0.71513	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN21	88037467	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	7.452000	0.80683	2.031000	0.59945	0.533000	0.62120	.		0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		Intron	C	88967714	T	C	88967714	5	2	433	1	0	0	0	0	0	0	1	0	12789	1594	55	4	2990	4	PTPN21	14	88967714	Splice_Site	SNP	T	TCGA-61-1903-01A-01W-0639-09	13412497	88967714	18381826	34	23878											
GSC	145258	genome.wustl.edu	37	14	95234843	95234843	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr14:95234843C>G	ENST00000238558.3	-	3	968	c.759G>C	c.(757-759)ttG>ttC	p.L253F		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	253					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		TGTCCGAGTCCAAATCGCTTT	0.557																																					Pancreas(105;2165 2186 4892 18008)											0			14											171	140	150					14																	95234843		2203	4300	6503	94304596	SO:0001583	missense	145258				CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"Homeoboxes / PRD class"	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.759G>C	14.37:g.95234843C>G	ENSP00000238558:p.Leu253Phe		94304596	Q86YR1	Missense_Mutation	SNP	ENST00000238558.3	37	CCDS9930.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136849	0.77662	.	.	ENSG00000133937	ENST00000238558	D	0.92965	-3.14	5.5	5.5	0.81552	.	0.258317	0.32161	N	0.006500	D	0.88923	0.6569	L	0.27053	0.805	0.58432	D	0.999998	B	0.22909	0.077	B	0.28849	0.095	D	0.85212	0.1021	10	0.56958	D	0.05	-12.7633	19.3816	0.94540	0.0:1.0:0.0:0.0	.	253	P56915	GSC_HUMAN	F	253	ENSP00000238558:L253F	ENSP00000238558:L253F	L	-	3	2	GSC	94304596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.397000	0.79903	2.580000	0.87095	0.462000	0.41574	TTG		0.557	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1			G	95234843	C	G	95234843	3	3	433	1	0	0	0	0	1	0	0	0	6814	593	21	3	18	3	GSC	14	95234843	Missense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09	6267129	95234843	12114697	35	23879											
AKAP13	11214	genome.wustl.edu	37	15	86273755	86273755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr15:86273755C>T	ENST00000394518.2	+	30	7194	c.7099C>T	c.(7099-7101)Cag>Tag	p.Q2367*	AKAP13_ENST00000394510.2_Nonsense_Mutation_p.Q612*|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Nonsense_Mutation_p.Q2371*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2367	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACAACTTCACCAGAAGGACCA	0.453											OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(94;603 1453 3280 32295 32951)											0			15											124	117	119					15																	86273755		2202	4299	6501	84074759	SO:0001587	stop_gained	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7099C>T	15.37:g.86273755C>T	ENSP00000378026:p.Gln2367*	1243	84074759	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	48	14.702181	0.99806	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	.	.	.	X	2371;2367;2370;2346;612	.	ENSP00000354718:Q2371X	Q	+	1	0	AKAP13	84074759	1.000000	0.71417	0.972000	0.41901	0.978000	0.69477	4.905000	0.63286	2.712000	0.92718	0.650000	0.86243	CAG		0.453	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		T	86273755	C	T	86273755	4	4	433	1	0	0	0	0	0	1	0	0	449	595	21	2	7283	2	AKAP13	15	86273755	Nonsense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09		86273755	16257637	36	23880											
TMC5	79838	genome.wustl.edu	37	16	19509283	19509283	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr16:19509283G>T	ENST00000396229.2	+	22	3765	c.3016G>T	c.(3016-3018)Gcc>Tcc	p.A1006S	TMC5_ENST00000561503.1_Missense_Mutation_p.A647S|RNU4-46P_ENST00000410818.1_RNA|TMC5_ENST00000564959.1_Missense_Mutation_p.A689S|TMC5_ENST00000381414.4_Missense_Mutation_p.A948S|TMC5_ENST00000541464.1_Missense_Mutation_p.A954S|TMC5_ENST00000219821.5_Missense_Mutation_p.A760S|TMC5_ENST00000542583.2_Missense_Mutation_p.A1006S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	1006					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TAATCCAAGGGCCTGATGACT	0.463																																																0			16											220	198	206					16																	19509283		2197	4300	6497	19416784	SO:0001583	missense	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.3016G>T	16.37:g.19509283G>T	ENSP00000379531:p.Ala1006Ser		19416784	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415538	0.25552	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821	T;T;T;T;T	0.70164	-0.23;-0.16;-0.32;-0.32;-0.46	4.44	0.108	0.14548	.	48.651600	0.00166	N	0.000000	T	0.53786	0.1818	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.25441	0.126;0.015;0.045;0.126	B;B;B;B	0.21546	0.035;0.013;0.013;0.035	T	0.33523	-0.9865	10	0.46703	T	0.11	1.5638	1.5077	0.02489	0.1896:0.1668:0.4717:0.1719	.	954;760;1006;948	F5GYU8;Q6UXY8-3;Q6UXY8;Q6UXY8-2	.;.;TMC5_HUMAN;.	S	954;948;1006;1006;760	ENSP00000441227:A954S;ENSP00000370822:A948S;ENSP00000379531:A1006S;ENSP00000446274:A1006S;ENSP00000219821:A760S	ENSP00000219821:A760S	A	+	1	0	TMC5	19416784	0.001000	0.12720	0.000000	0.03702	0.063000	0.16089	0.305000	0.19254	0.071000	0.16664	-0.140000	0.14226	GCC		0.463	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		T	19509283	G	T	19509283	3	4	433	1	0	0	0	0	1	0	0	0	15988	1203	42	3	3408	3	TMC5	16	19509283	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09		19509283	70845470	37	23881											
GPRC5B	51704	genome.wustl.edu	37	16	19883571	19883571	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr16:19883571G>T	ENST00000300571.2	-	2	788	c.597C>A	c.(595-597)gaC>gaA	p.D199E	GPRC5B_ENST00000537135.1_Missense_Mutation_p.D225E|GPRC5B_ENST00000569479.1_Missense_Mutation_p.D199E|GPRC5B_ENST00000569847.1_Missense_Mutation_p.D199E|GPRC5B_ENST00000535671.1_Missense_Mutation_p.D199E	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	199					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCATCACAAAGTCCATGGGCT	0.597																																																0			16											119	98	105					16																	19883571		2197	4300	6497	19791072	SO:0001583	missense	51704			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.597C>A	16.37:g.19883571G>T	ENSP00000300571:p.Asp199Glu		19791072	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870847	0.72065	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000537135	D;D;D	0.88046	-2.33;-2.33;-2.33	5.27	1.23	0.21249	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	M	0.76574	2.34	0.51012	D	0.999909	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.994	D	0.87807	0.2629	9	.	.	.	.	6.6154	0.22774	0.593:0.0:0.407:0.0	.	225;199	B7Z831;Q9NZH0	.;GPC5B_HUMAN	E	199;199;225	ENSP00000300571:D199E;ENSP00000442858:D199E;ENSP00000441775:D225E	.	D	-	3	2	GPRC5B	19791072	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.981000	0.49329	0.422000	0.26005	0.650000	0.86243	GAC		0.597	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			T	19883571	G	T	19883571	3	4	433	1	0	0	0	0	1	0	0	0	6725	1020	36	3	626	3	GPRC5B	16	19883571	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09	374288	19883571	70471182	38	23882											
TP53	7157	genome.wustl.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	17	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	7518273	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser		7518273	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577548	C	T	7577548	3	4	433	1	0	0	0	0	1	0	0	0	16381	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09		7577548	73617662	39	23883											
SLC38A10	124565	genome.wustl.edu	37	17	79250915	79250915	+	Silent	SNP	G	G	A			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr17:79250915G>A	ENST00000374759.3	-	7	1028	c.645C>T	c.(643-645)taC>taT	p.Y215Y	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Silent_p.Y215Y	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	215					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGGCTGTCGTAGGTGGGCA	0.557																																																0			17											159	117	131					17																	79250915		2203	4300	6503	76865510	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.645C>T	17.37:g.79250915G>A			76865510	Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.557	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		A	79250915	G	A	79250915	2	1	433	1	0	0	0	0	0	0	0	1	14605	1140	40	1		1	SLC38A10	17	79250915	Silent	SNP	G	TCGA-61-1903-01A-01W-0639-09	71673367	79250915	1944295	40	23884											
OR7G2	390882	genome.wustl.edu	37	19	9213963	9213963	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr19:9213963A>C	ENST00000305456.2	-	1	19	c.20T>G	c.(19-21)cTt>cGt	p.L7R		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AAAATCTGTAAGCAGcagctg	0.443																																					Esophageal Squamous(67;143 1448 28637 40648)											0			19											48	48	48					19																	9213963		2203	4300	6503	9074963	SO:0001583	missense	390882				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.20T>G	19.37:g.9213963A>C	ENSP00000303822:p.Leu7Arg		9074963	Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	a	10.32	1.318252	0.23994	.	.	ENSG00000170923	ENST00000305456	T	0.11385	2.78	2.17	-4.3	0.03710	.	.	.	.	.	T	0.09686	0.0238	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34601	-0.9822	6	0.66056	D	0.02	.	4.2526	0.10702	0.3456:0.1906:0.4638:0.0	.	.	.	.	R	7	ENSP00000303822:L7R	ENSP00000303822:L7R	L	-	2	0	OR7G2	9074963	0.006000	0.16342	0.000000	0.03702	0.011000	0.07611	1.440000	0.35024	-1.004000	0.03421	0.397000	0.26171	CTT		0.443	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			C	9213963	A	C	9213963	3	2	433	1	0	0	0	0	1	0	0	0	11223	72	3	5	1019	5	OR7G2	19	9213963	Missense_Mutation	SNP	A	TCGA-61-1903-01A-01W-0639-09		9213963	49915020	41	23885											
ZNF559	84527	genome.wustl.edu	37	19	9451831	9451831	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr19:9451831C>G	ENST00000393883.2	+	5	862	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Missense_Mutation_p.Q100E|ZNF559_ENST00000585352.1_Missense_Mutation_p.Q72E|ZNF559_ENST00000538743.1_5'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000317221.7_Missense_Mutation_p.Q72E|ZNF559_ENST00000586255.1_Missense_Mutation_p.Q100E|ZNF559_ENST00000603380.1_Missense_Mutation_p.Q72E|ZNF559_ENST00000587557.1_Missense_Mutation_p.Q136E|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592504.1_Missense_Mutation_p.Q72E|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GAATTTTTTGCAGGGGAAAAC	0.323																																																0			19											94	107	102					19																	9451831		2203	4300	6503	9312831	SO:0001583	missense	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.214C>G	19.37:g.9451831C>G	ENSP00000377461:p.Gln72Glu		9312831	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	0.048	-1.260744	0.01445	.	.	ENSG00000188321	ENST00000317221;ENST00000393883	T;T	0.06142	4.96;3.34	2.19	-4.37	0.03633	Krueppel-associated box (2);	.	.	.	.	T	0.03477	0.0100	N	0.26042	0.785	0.09310	N	0.999999	B;B	0.21753	0.007;0.06	B;B	0.23150	0.006;0.044	T	0.41945	-0.9480	9	0.30854	T	0.27	.	1.3241	0.02122	0.246:0.3089:0.2978:0.1473	.	72;72	B3KPL8;Q9BR84	.;ZN559_HUMAN	E	72	ENSP00000325393:Q72E;ENSP00000377461:Q72E	ENSP00000325393:Q72E	Q	+	1	0	ZNF559	9312831	0.000000	0.05858	0.000000	0.03702	0.837000	0.47467	-2.791000	0.00767	-1.842000	0.01181	0.455000	0.32223	CAG		0.323	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		G	9451831	C	G	9451831	3	3	433	1	0	0	0	0	1	0	0	0	17990	711	25	3	224	3	ZNF559	19	9451831	Missense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09	237868	9451831	49677152	42	23886											
ZNF229	7772	genome.wustl.edu	37	19	44933591	44933591	+	Silent	SNP	G	G	A			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr19:44933591G>A	ENST00000588931.1	-	6	1798	c.1365C>T	c.(1363-1365)caC>caT	p.H455H	ZNF229_ENST00000291187.4_Silent_p.H449H|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	455					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)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTTCTCCAGGGTGAATGTGCT	0.577																																																0			19											59	66	64					19																	44933591		2190	4297	6487	49625431	SO:0001819	synonymous_variant	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1365C>T	19.37:g.44933591G>A			49625431	B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	CCDS42574.1																																																																																				0.577	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		A	44933591	G	A	44933591	2	1	433	1	0	0	0	0	0	0	0	1	17782	1252	44	2		2	ZNF229	19	44933591	Silent	SNP	G	TCGA-61-1903-01A-01W-0639-09	35481760	44933591	14195392	43	23887											
GIPR	2696	genome.wustl.edu	37	19	46181163	46181163	+	Splice_Site	SNP	G	G	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr19:46181163G>C	ENST00000590918.1	+	11	1023		c.e11-1		GIPR_ENST00000263281.3_Splice_Site|GIPR_ENST00000304207.8_Splice_Site|MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000593127.1_Splice_Site	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor						activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCTCCCCACAGATTAATTTCC	0.572																																																0			19											79	71	74					19																	46181163		2203	4300	6503	50873003	SO:0001630	splice_region_variant	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.925-1G>C	19.37:g.46181163G>C			50873003	B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Splice_Site	SNP	ENST00000590918.1	37	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893646	0.72639	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8859	0.52602	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIPR	50873003	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	6.037000	0.70956	2.162000	0.67917	0.313000	0.20887	.		0.572	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1		Intron	C	46181163	G	C	46181163	5	2	433	1	0	0	0	0	0	0	1	0	6395	956	33	3	962	3	GIPR	19	46181163	Splice_Site	SNP	G	TCGA-61-1903-01A-01W-0639-09	1247572	46181163	12947820	44	23888											
PEG3	5178	genome.wustl.edu	37	19	57325167	57325167	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr19:57325167C>T	ENST00000326441.9	-	10	5006	c.4643G>A	c.(4642-4644)cGt>cAt	p.R1548H	PEG3_ENST00000593695.1_Missense_Mutation_p.R1422H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1548H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R1424H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1548					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R1548H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTGCTGGCACGTTCGATGTA	0.517																																																2	Substitution - Missense(2)	pancreas(2)	19											148	126	133					19																	57325167		2203	4300	6503	62016979	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4643G>A	19.37:g.57325167C>T	ENSP00000326581:p.Arg1548His		62016979	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0.953	-0.705788	0.03255	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	3.97	-3.58	0.04597	.	1.335950	0.05106	N	0.488052	T	0.01287	0.0042	N	0.04508	-0.205	.	.	.	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.04013	0.001;0.0;0.001	T	0.45086	-0.9285	9	0.02654	T	1	-2.2214	6.3924	0.21593	0.0:0.3664:0.1317:0.5018	.	1424;1548;1483	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	1548	ENSP00000326581:R1548H;ENSP00000403051:R1548H	ENSP00000326581:R1548H	R	-	2	0	ZIM2	62016979	0.000000	0.05858	0.000000	0.03702	0.794000	0.44872	-0.514000	0.06298	-1.033000	0.03299	-1.094000	0.02160	CGT		0.517	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57325167	C	T	57325167	3	4	433	1	0	0	0	0	1	0	0	0	11720	536	19	1	127	1	PEG3	19	57325167	Missense_Mutation	SNP	C	TCGA-61-1903-01A-01W-0639-09	11144004	57325167	1803816	45	23889											
THOC5	8563	genome.wustl.edu	37	22	29913092	29913092	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chr22:29913092G>C	ENST00000490103.1	-	17	1729	c.1607C>G	c.(1606-1608)aCc>aGc	p.T536S	THOC5_ENST00000397872.1_Missense_Mutation_p.T536S|THOC5_ENST00000397873.2_Missense_Mutation_p.T536S|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.T536S	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	536					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATGTCTTTGGTGAAGTGCAG	0.537																																																0			22											146	135	139					22																	29913092		2203	4300	6503	28243092	SO:0001583	missense	8563			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1607C>G	22.37:g.29913092G>C	ENSP00000420306:p.Thr536Ser		28243092	O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648498	0.47258	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.66	5.66	0.87406	.	0.089387	0.85682	D	0.000000	T	0.24005	0.0581	M	0.62723	1.935	0.52099	D	0.999948	B	0.34015	0.435	B	0.27262	0.078	T	0.03335	-1.1047	10	0.22109	T	0.4	-35.4518	19.3554	0.94410	0.0:0.0:1.0:0.0	.	536	Q13769	THOC5_HUMAN	S	536	ENSP00000420306:T536S;ENSP00000380970:T536S;ENSP00000380969:T536S;ENSP00000380971:T536S	ENSP00000380969:T536S	T	-	2	0	THOC5	28243092	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.323000	0.79105	2.675000	0.91044	0.655000	0.94253	ACC		0.537	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		C	29913092	G	C	29913092	3	2	433	1	0	0	0	0	1	0	0	0	15868	1261	44	3	460	3	THOC5	22	29913092	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09		29913092	21391474	46	23890											
ZNF41	7592	genome.wustl.edu	37	X	47308564	47308564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chrX:47308564G>T	ENST00000377065.4	-	5	1244	c.605C>A	c.(604-606)tCa>tAa	p.S202*	ZNF41_ENST00000313116.7_Nonsense_Mutation_p.S202*|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Nonsense_Mutation_p.S212*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	244					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)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATGATTATGTGAGTTTAAAGT	0.328																																																0			X											129	120	123					X																	47308564		2203	4300	6503	47193508	SO:0001587	stop_gained	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.605C>A	X.37:g.47308564G>T	ENSP00000366265:p.Ser202*		47193508	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Nonsense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916900	0.52546	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	.	.	.	2.96	-1.13	0.09775	.	0.351374	0.16240	N	0.223214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	3.1278	0.06413	0.3904:0.0:0.3972:0.2125	.	.	.	.	X	202;202;212	.	ENSP00000315173:S202X	S	-	2	0	ZNF41	47193508	0.491000	0.26019	0.215000	0.23724	0.005000	0.04900	0.923000	0.28757	-0.318000	0.08665	-1.412000	0.01120	TCA		0.328	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		T	47308564	G	T	47308564	4	4	433	1	0	0	0	0	0	1	0	0	17889	1294	45	3	1738	3	ZNF41	23	47308564	Nonsense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09		47308564	107961996	47	23891											
SYTL4	94121	genome.wustl.edu	37	X	99931047	99931047	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1903-01A-01W-0639-09	TCGA-61-1903-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	a67ce4fe-9da2-4eef-aa08-928658c25570	eaab9831-3f75-4083-9772-eba8674fd54c	g.chrX:99931047G>T	ENST00000372989.1	-	19	2325	c.1994C>A	c.(1993-1995)gCc>gAc	p.A665D	RP11-524D16__A.3_ENST00000568809.1_RNA|SYTL4_ENST00000276141.6_Missense_Mutation_p.A665D|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000454200.2_Missense_Mutation_p.A667D|SYTL4_ENST00000455616.1_Missense_Mutation_p.A665D|SYTL4_ENST00000263033.5_Missense_Mutation_p.A665D	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	665					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTTCTGCTTGGCCATTGAGGA	0.547																																																0			X											106	75	85					X																	99931047		2203	4300	6503	99817703	SO:0001583	missense	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1994C>A	X.37:g.99931047G>T	ENSP00000362080:p.Ala665Asp		99817703	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766390	0.69878	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.77	3.04	0.35103	C2 calcium/lipid-binding domain, CaLB (1);	0.611020	0.17698	N	0.165013	T	0.18173	0.0436	L	0.33189	0.99	0.27235	N	0.959287	P	0.40398	0.716	B	0.42771	0.397	T	0.06770	-1.0808	9	.	.	.	-2.1847	9.9122	0.41413	0.2269:0.0:0.7731:0.0	.	665	Q96C24	SYTL4_HUMAN	D	665;665;667;665;665	ENSP00000362080:A665D;ENSP00000390252:A665D;ENSP00000403556:A667D;ENSP00000276141:A665D;ENSP00000263033:A665D	.	A	-	2	0	SYTL4	99817703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.136000	0.31467	0.218000	0.20820	0.538000	0.68166	GCC		0.547	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		T	99931047	G	T	99931047	3	4	433	1	0	0	0	0	1	0	0	0	15485	1203	42	3	25	3	SYTL4	23	99931047	Missense_Mutation	SNP	G	TCGA-61-1903-01A-01W-0639-09	52622483	99931047	55339513	48	23892											
WDR8	49856	genome.wustl.edu	37	1	3550064	3550064	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:3550064C>A	ENST00000270708.7	-	9	893	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L	WRAP73_ENST00000378322.3_Missense_Mutation_p.V274L	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	274						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TCCTTATACACCACCTGAAAG	0.652																																																0			1											20	21	20					1																	3550064		2187	4280	6467	3539924	SO:0001583	missense	49856			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.820G>T	1.37:g.3550064C>A	ENSP00000270708:p.Val274Leu		3539924	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	CCDS48.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496615	0.44352	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.59224	0.7;0.7;0.28	4.68	4.68	0.58851	WD40 repeat-like-containing domain (1);	0.118364	0.56097	D	0.000023	T	0.63498	0.2516	M	0.79805	2.47	0.51482	D	0.999921	B;P	0.41673	0.43;0.759	B;B	0.43950	0.107;0.437	T	0.65829	-0.6073	10	0.35671	T	0.21	-16.898	13.4812	0.61336	0.0:1.0:0.0:0.0	.	274;229	Q9P2S5;Q5T0D5	WRP73_HUMAN;.	L	274;274;229	ENSP00000270708:V274L;ENSP00000367573:V274L;ENSP00000416192:V229L	ENSP00000270708:V274L	V	-	1	0	WRAP73	3539924	1.000000	0.71417	0.998000	0.56505	0.554000	0.35429	4.621000	0.61233	2.310000	0.77875	0.650000	0.86243	GTG		0.652	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			A	3550064	C	A	3550064	3	1	434	1	0	0	0	0	1	0	0	0	17329	507	18	3	578	3	WDR8	1	3550064	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09		3550064	245700557	1	23893											
NOL9	79707	genome.wustl.edu	37	1	6589100	6589100	+	Silent	SNP	C	C	A	rs183060003		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:6589100C>A	ENST00000377705.5	-	10	1811	c.1779G>T	c.(1777-1779)ggG>ggT	p.G593G		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	593					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGATGGGCCCATTCGTGT	0.493																																																0			1											122	107	112					1																	6589100		2203	4300	6503	6511687	SO:0001819	synonymous_variant	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1779G>T	1.37:g.6589100C>A			6511687	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Silent	SNP	ENST00000377705.5	37	CCDS80.1																																																																																				0.493	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		A	6589100	C	A	6589100	2	1	434	1	0	0	0	0	0	0	0	1	10528	726	26	3		3	NOL9	1	6589100	Silent	SNP	C	TCGA-61-1904-01A-01W-0639-09	3039036	6589100	242661521	2	23894											
SPEN	23013	genome.wustl.edu	37	1	16261174	16261174	+	Silent	SNP	G	G	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:16261174G>C	ENST00000375759.3	+	11	8643	c.8439G>C	c.(8437-8439)ggG>ggC	p.G2813G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2813	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTTCTGAAGGGGTTGTGCTCC	0.602																																																0			1											54	61	59					1																	16261174		2203	4300	6503	16133761	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8439G>C	1.37:g.16261174G>C			16133761	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.602	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16261174	G	C	16261174	2	2	434	1	0	0	0	0	0	0	0	1	15040	1219	43	3		3	SPEN	1	16261174	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	9672074	16261174	232989447	3	23895											
KLHDC7A	127707	genome.wustl.edu	37	1	18809147	18809147	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:18809147C>T	ENST00000400664.1	+	1	1724	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	558						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCTCCAGCCGCGTCTTCTG	0.701																																																0			1											11	15	14					1																	18809147		2134	4224	6358	18681734	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1672C>T	1.37:g.18809147C>T	ENSP00000383505:p.Arg558Cys		18681734	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638358	0.67130	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78126	-1.15	5.2	4.26	0.50523	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	L	0.39633	1.23	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84449	0.0587	10	0.87932	D	0	.	13.8804	0.63678	0.1528:0.8472:0.0:0.0	.	495;558	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	C	558;495	ENSP00000383505:R558C	ENSP00000383505:R558C	R	+	1	0	KLHDC7A	18681734	0.876000	0.30132	0.756000	0.31282	0.976000	0.68499	1.785000	0.38684	2.423000	0.82170	0.561000	0.74099	CGC		0.701	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		T	18809147	C	T	18809147	3	4	434	1	0	0	0	0	1	0	0	0	8360	652	23	1	1674	1	KLHDC7A	1	18809147	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	2547973	18809147	230441474	4	23896											
EPHA8	2046	genome.wustl.edu	37	1	22915416	22915416	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:22915416G>A	ENST00000166244.3	+	5	1104	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	EPHA8_ENST00000538803.1_Silent_p.V344V|EPHA8_ENST00000374644.4_Silent_p.V344V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGACATCAGTGACTCTGGAGT	0.627																																																0			1											55	51	52					1																	22915416		2203	4300	6503	22788003	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1032G>A	1.37:g.22915416G>A			22788003	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.627	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		A	22915416	G	A	22915416	2	1	434	1	0	0	0	0	0	0	0	1	5173	1277	45	2		2	EPHA8	1	22915416	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	4106269	22915416	226335205	5	23897											
RIMKLA	284716	genome.wustl.edu	37	1	42880544	42880544	+	Missense_Mutation	SNP	C	C	T	rs369934711		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:42880544C>T	ENST00000431473.3	+	5	1204	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	359					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGGAGAGATCCGGGATTCCTC	0.527																																																0			1						C	TRP/ARG	0,4406		0,0,2203	74	77	76		1075	4.4	1	1		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIMKLA	NM_173642.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	359/392	42880544	1,13005	2203	4300	6503	42653131	SO:0001583	missense	284716			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.1075C>T	1.37:g.42880544C>T	ENSP00000414330:p.Arg359Trp		42653131	Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228219	0.58777	0.0	1.16E-4	ENSG00000177181	ENST00000431473	.	.	.	5.38	4.4	0.53042	.	0.211530	0.40064	N	0.001189	T	0.56108	0.1963	L	0.44542	1.39	0.36276	D	0.855501	D	0.67145	0.996	P	0.56648	0.803	T	0.65401	-0.6177	9	0.72032	D	0.01	-19.0224	10.0243	0.42061	0.3352:0.6648:0.0:0.0	.	359	Q8IXN7	RIMKA_HUMAN	W	359	.	ENSP00000414330:R359W	R	+	1	2	RIMKLA	42653131	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.813000	0.27225	2.524000	0.85096	0.561000	0.74099	CGG		0.527	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		T	42880544	C	T	42880544	3	4	434	1	0	0	0	0	1	0	0	0	13368	643	23	1	1093	1	RIMKLA	1	42880544	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	19965128	42880544	206370077	6	23898											
PRPF38A	84950	genome.wustl.edu	37	1	52871381	52871381	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:52871381T>G	ENST00000257181.9	+	2	346	c.160T>G	c.(160-162)Tta>Gta	p.L54V	PRPF38A_ENST00000474048.1_3'UTR|ORC1_ENST00000371568.3_5'Flank|ORC1_ENST00000371566.1_5'Flank	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	54					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGCCATGGAGTTAAGGTTTGT	0.398																																																0			1											127	125	125					1																	52871381		2203	4300	6503	52643969	SO:0001583	missense	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.160T>G	1.37:g.52871381T>G	ENSP00000257181:p.Leu54Val		52643969	Q96JW1|Q9BVZ8	Missense_Mutation	SNP	ENST00000257181.9	37	CCDS567.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319068	0.81469	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.45	1.95	0.26073	.	0.162995	0.42548	D	0.000696	T	0.62270	0.2414	M	0.68728	2.09	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.66964	-0.5790	9	0.05721	T	0.95	-5.9089	6.1152	0.20122	0.0:0.4328:0.0:0.5672	.	54	Q8NAV1	PR38A_HUMAN	V	54	.	ENSP00000257181:L54V	L	+	1	2	PRPF38A	52643969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.899000	0.56288	0.899000	0.36444	0.477000	0.44152	TTA		0.398	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864		G	52871381	T	G	52871381	3	3	434	1	0	0	0	0	1	0	0	0	12570	1722	60	5	166	5	PRPF38A	1	52871381	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09	9990837	52871381	196379240	7	23899											
FLG	2312	genome.wustl.edu	37	1	152275827	152275827	+	Silent	SNP	G	G	A	rs564072147		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:152275827G>A	ENST00000368799.1	-	3	11570	c.11535C>T	c.(11533-11535)tcC>tcT	p.S3845S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3845	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S3845S(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCCTGGCCGGACTGTGAGT	0.587									Ichthyosis				G|||	1	0.000199681	0	0	5008	,	,		19580	0		0	False		,,,				2504	0.001															2	Substitution - coding silent(2)	lung(1)|endometrium(1)	1											219	226	224					1																	152275827		2203	4300	6503	150542451	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11535C>T	1.37:g.152275827G>A			150542451	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152275827	G	A	152275827	2	1	434	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152275827	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	99404446	152275827	96974794	8	23900											
HCN3	57657	genome.wustl.edu	37	1	155254346	155254346	+	Missense_Mutation	SNP	G	G	A	rs137875525		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:155254346G>A	ENST00000368358.3	+	4	895	c.887G>A	c.(886-888)cGc>cAc	p.R296H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	296					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			TCGTGGGGCCGCCAGTATTCC	0.592																																																0			1						G	HIS/ARG	0,4406		0,0,2203	63	56	59		887	4.4	1	1	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	missense	HCN3	NM_020897.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	296/775	155254346	2,13004	2203	4300	6503	153520970	SO:0001583	missense	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.887G>A	1.37:g.155254346G>A	ENSP00000357342:p.Arg296His		153520970	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512628	0.85389	0.0	2.33E-4	ENSG00000143630	ENST00000368358	D	0.97378	-4.36	5.35	4.42	0.53409	Ion transport (1);	0.000000	0.52532	D	0.000072	D	0.88658	0.6496	N	0.17723	0.515	0.36862	D	0.888488	B	0.23735	0.09	B	0.17979	0.02	D	0.86765	0.1969	10	0.66056	D	0.02	.	7.4983	0.27503	0.179:0.0:0.821:0.0	.	296	Q9P1Z3	HCN3_HUMAN	H	296	ENSP00000357342:R296H	ENSP00000357342:R296H	R	+	2	0	HCN3	153520970	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.183000	0.72002	2.653000	0.90120	0.557000	0.71058	CGC		0.592	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		A	155254346	G	A	155254346	3	1	434	1	0	0	0	0	1	0	0	0	6998	1087	38	1	901	1	HCN3	1	155254346	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	2978519	155254346	93996275	9	23901											
HMCN1	83872	genome.wustl.edu	37	1	185962417	185962417	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:185962417C>G	ENST00000271588.4	+	23	3710	c.3481C>G	c.(3481-3483)Cag>Gag	p.Q1161E	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q1161E|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1161	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATGTGACTCAGGCTGTCAA	0.423																																																0			1											94	92	93					1																	185962417		2203	4299	6502	184229040	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3481C>G	1.37:g.185962417C>G	ENSP00000271588:p.Gln1161Glu		184229040	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583349	0.86748	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65916	-0.18;-0.18	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051969	0.85682	D	0.000000	T	0.62708	0.2450	N	0.12920	0.275	0.80722	D	1	D;D	0.65815	0.995;0.986	D;D	0.69307	0.914;0.963	T	0.53422	-0.8441	10	0.02654	T	1	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	545;1161	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	E	1161	ENSP00000271588:Q1161E;ENSP00000356462:Q1161E	ENSP00000271588:Q1161E	Q	+	1	0	HMCN1	184229040	1.000000	0.71417	0.994000	0.49952	0.802000	0.45316	5.329000	0.65892	2.885000	0.99019	0.655000	0.94253	CAG		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	185962417	C	G	185962417	3	3	434	1	0	0	0	0	1	0	0	0	7220	827	29	3	3571	3	HMCN1	1	185962417	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	30708071	185962417	63288204	10	23902											
TRIM17	51127	genome.wustl.edu	37	1	228602478	228602478	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:228602478C>T	ENST00000366697.2	-	1	1252	c.296G>A	c.(295-297)tGc>tAc	p.C99Y	TRIM17_ENST00000456946.2_Missense_Mutation_p.C99Y|TRIM17_ENST00000366698.2_Missense_Mutation_p.C99Y|TRIM17_ENST00000295033.3_Missense_Mutation_p.C99Y			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	99					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GTGCTCCTGGCACAGGTCTTG	0.637																																																0			1											74	79	77					1																	228602478		2203	4300	6503	226669101	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.296G>A	1.37:g.228602478C>T	ENSP00000355658:p.Cys99Tyr		226669101	B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628495	0.46944	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586	D;D;D;D;D;D	0.99080	-5.4;-5.4;-5.4;-5.4;-5.4;-5.4	4.82	4.82	0.62117	Zinc finger, B-box (3);	0.000000	0.45867	D	0.000321	D	0.99539	0.9835	H	0.98738	4.315	0.43724	D	0.996204	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98139	1.0435	10	0.87932	D	0	.	9.7415	0.40420	0.0:0.9034:0.0:0.0966	.	99;99	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	Y	99;99;99;99;72;99	ENSP00000355658:C99Y;ENSP00000355659:C99Y;ENSP00000295033:C99Y;ENSP00000403312:C99Y;ENSP00000430468:C72Y;ENSP00000347794:C99Y	ENSP00000295033:C99Y	C	-	2	0	TRIM17	226669101	1.000000	0.71417	0.994000	0.49952	0.061000	0.15899	7.085000	0.76875	2.607000	0.88179	0.655000	0.94253	TGC		0.637	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		T	228602478	C	T	228602478	3	4	434	1	0	0	0	0	1	0	0	0	16493	710	25	2	1310	2	TRIM17	1	228602478	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	42640061	228602478	20648143	11	23903											
OR2T33	391195	genome.wustl.edu	37	1	248436566	248436566	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr1:248436566C>T	ENST00000318021.2	-	1	572	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R184L(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACAAGCCAAACGCACCAGCAC	0.542																																																1	Substitution - Missense(1)	lung(1)	1											28	32	31					1																	248436566		2199	4285	6484	246503189	SO:0001583	missense	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.551G>A	1.37:g.248436566C>T	ENSP00000324687:p.Arg184His		246503189	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	4.301	0.055071	0.08291	.	.	ENSG00000177212	ENST00000318021	T	0.00137	8.68	1.86	-0.327	0.12694	GPCR, rhodopsin-like superfamily (1);	0.529203	0.14321	U	0.327030	T	0.00109	0.0003	L	0.41573	1.285	0.09310	N	1	B	0.27951	0.195	B	0.29524	0.103	T	0.23048	-1.0199	10	0.52906	T	0.07	.	3.0617	0.06201	0.0:0.2921:0.2326:0.4753	.	184	Q8NG76	O2T33_HUMAN	H	184	ENSP00000324687:R184H	ENSP00000324687:R184H	R	-	2	0	OR2T33	246503189	0.000000	0.05858	0.477000	0.27303	0.472000	0.32918	-1.912000	0.01582	-0.067000	0.12976	-0.450000	0.05554	CGT		0.542	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248436566	C	T	248436566	3	4	434	1	0	0	0	0	1	0	0	0	11024	536	19	1	414	1	OR2T33	1	248436566	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	19834088	248436566	814055	12	23904											
OTOF	9381	genome.wustl.edu	37	2	26725226	26725226	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr2:26725226G>A	ENST00000272371.2	-	7	778	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	OTOF_ENST00000403946.3_Missense_Mutation_p.P218S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	218					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCGAGTCGGGATCCAGTCCA	0.587																																					GBM(102;732 1451 20652 24062 31372)											0			2											97	80	86					2																	26725226		2203	4300	6503	26578730	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.652C>T	2.37:g.26725226G>A	ENSP00000272371:p.Pro218Ser		26578730	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541780	0.45280	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.79845	-1.31;-1.31	5.52	4.64	0.57946	.	0.255793	0.46442	N	0.000283	T	0.72285	0.3441	M	0.62723	1.935	0.58432	D	0.999999	P	0.35077	0.483	B	0.30943	0.122	T	0.69194	-0.5209	10	0.02654	T	1	-12.2469	12.9292	0.58276	0.0782:0.0:0.9218:0.0	.	218	Q9HC10	OTOF_HUMAN	S	218;218;102	ENSP00000272371:P218S;ENSP00000385255:P218S	ENSP00000272371:P218S	P	-	1	0	OTOF	26578730	1.000000	0.71417	0.559000	0.28332	0.438000	0.31896	7.371000	0.79600	1.340000	0.45581	0.655000	0.94253	CCC		0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26725226	G	A	26725226	3	1	434	1	0	0	0	0	1	0	0	0	11303	1174	41	2	5830	2	OTOF	2	26725226	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09		26725226	216474147	13	23905											
PLEK	5341	genome.wustl.edu	37	2	68613644	68613644	+	Silent	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr2:68613644C>A	ENST00000234313.7	+	5	662	c.483C>A	c.(481-483)gtC>gtA	p.V161V		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	161	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GTAACTGCGTCATTGATTGGC	0.532																																																0			2											111	95	100					2																	68613644		2203	4300	6503	68467148	SO:0001819	synonymous_variant	5341			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.483C>A	2.37:g.68613644C>A			68467148	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	CCDS1887.1																																																																																				0.532	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		A	68613644	C	A	68613644	2	1	434	1	0	0	0	0	0	0	0	1	12053	813	29	3		3	PLEK	2	68613644	Silent	SNP	C	TCGA-61-1904-01A-01W-0639-09	41888418	68613644	174585729	14	23906											
MAP4K4	9448	genome.wustl.edu	37	2	102490591	102490591	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr2:102490591C>T	ENST00000347699.4	+	23	2683	c.2683C>T	c.(2683-2685)Cct>Tct	p.P895S	MAP4K4_ENST00000350198.4_Missense_Mutation_p.P814S|MAP4K4_ENST00000413150.2_Missense_Mutation_p.P810S|MAP4K4_ENST00000350878.4_Missense_Mutation_p.P935S|MAP4K4_ENST00000324219.4_Missense_Mutation_p.P976S|MAP4K4_ENST00000425019.1_Missense_Mutation_p.P928S|MAP4K4_ENST00000302217.5_Missense_Mutation_p.P698S|MAP4K4_ENST00000456652.1_Missense_Mutation_p.P694S	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	895	Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGCAAGATCCTACCCGGAA	0.438																																																0			2											109	108	109					2																	102490591		1936	4133	6069	101857023	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2683C>T	2.37:g.102490591C>T	ENSP00000314363:p.Pro895Ser		101857023	O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.96|13.96	2.391501|2.391501	0.42410|0.42410	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.73897|.	-0.74;-0.66;-0.65;-0.16;-0.67;-0.16;-0.67;-0.79;-0.71|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60996|0.60996	0.2312|0.2312	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D;D;B;B;D;D;B;D;D;P|.	0.67145|.	0.993;0.993;0.034;0.178;0.996;0.986;0.118;0.996;0.961;0.584|.	D;D;B;B;D;P;B;D;P;P|.	0.75484|.	0.979;0.968;0.053;0.28;0.986;0.844;0.092;0.986;0.786;0.502|.	T|T	0.56329|0.56329	-0.7997|-0.7997	10|5	0.21540|.	T|.	0.41|.	.|.	18.7789|18.7789	0.91924|0.91924	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	935;891;694;698;813;895;928;814;867;976|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	S|F	928;976;814;698;810;694;895;826;935|711	ENSP00000392830:P928S;ENSP00000313644:P976S;ENSP00000281111:P814S;ENSP00000303600:P698S;ENSP00000389752:P810S;ENSP00000387370:P694S;ENSP00000314363:P895S;ENSP00000409720:P826S;ENSP00000343658:P935S|.	ENSP00000303600:P698S|.	P|S	+|+	1|2	0|0	MAP4K4|MAP4K4	101857023|101857023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.582000|5.582000	0.67477|0.67477	2.435000|2.435000	0.82474|0.82474	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.438	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		T	102490591	C	T	102490591	3	4	434	1	0	0	0	0	1	0	0	0	9262	855	30	2	3024	2	MAP4K4	2	102490591	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	33876947	102490591	140708782	15	23907											
EPHA4	2043	genome.wustl.edu	37	2	222428537	222428537	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr2:222428537T>G	ENST00000281821.2	-	3	778	c.737A>C	c.(736-738)tAc>tCc	p.Y246S	EPHA4_ENST00000409854.1_Missense_Mutation_p.Y246S|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y195S|EPHA4_ENST00000409938.1_Missense_Mutation_p.Y246S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	246	Cys-rich.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCCCCACAGTACATTTTTGG	0.532																																																0			2											498	392	428					2																	222428537		2203	4300	6503	222136781	SO:0001583	missense	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.737A>C	2.37:g.222428537T>G	ENSP00000281821:p.Tyr246Ser		222136781	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598253	0.66332	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.57	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.92738	3.34	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.90351	0.4366	10	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	246	P54764	EPHA4_HUMAN	S	246;246;246;195	ENSP00000281821:Y246S;ENSP00000386276:Y246S;ENSP00000386829:Y246S;ENSP00000375923:Y195S	ENSP00000281821:Y246S	Y	-	2	0	EPHA4	222136781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	TAC		0.532	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			G	222428537	T	G	222428537	3	3	434	1	0	0	0	0	1	0	0	0	5169	1638	57	5	2283	5	EPHA4	2	222428537	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09	119937946	222428537	20770836	16	23908											
CACNA1D	776	genome.wustl.edu	37	3	53845164	53845164	+	Missense_Mutation	SNP	C	C	T	rs140215004		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr3:53845164C>T	ENST00000350061.5	+	48	6728	c.6217C>T	c.(6217-6219)Cgc>Tgc	p.R2073C	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R2049C|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R2093C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2073					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCTTGGGACGCTATGCAAG	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		21189	0		0	False		,,,				2504	0															0			3						C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	98	95	96		6277,6145,6217	5.4	1	3	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	2093/2182,2049/2138,2073/2162	53845164	1,13005	2203	4300	6503	53820204	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6217C>T	3.37:g.53845164C>T	ENSP00000288133:p.Arg2073Cys		53820204	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623440	0.66901	2.27E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.39	5.39	0.77823	.	0.320794	0.25083	N	0.033278	T	0.70666	0.3250	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;0.998;1.0	P;P;P;P	0.62184	0.719;0.772;0.676;0.899	T	0.73658	-0.3913	10	0.66056	D	0.02	.	15.2605	0.73617	0.1488:0.8512:0.0:0.0	.	2049;1766;2073;2093	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	C	2073;2093;2049;1766	ENSP00000288133:R2073C;ENSP00000288139:R2093C;ENSP00000409174:R2049C;ENSP00000418014:R1766C	ENSP00000288139:R2093C	R	+	1	0	CACNA1D	53820204	0.993000	0.37304	1.000000	0.80357	0.662000	0.39071	3.118000	0.50414	2.710000	0.92621	0.655000	0.94253	CGC		0.517	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53845164	C	T	53845164	3	4	434	1	0	0	0	0	1	0	0	0	2541	536	19	1	6579	1	CACNA1D	3	53845164	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09		53845164	144177266	17	23909											
MORC1	27136	genome.wustl.edu	37	3	108688541	108688541	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr3:108688541T>G	ENST00000483760.1	-	25	2559	c.2516A>C	c.(2515-2517)aAa>aCa	p.K839T	MORC1_ENST00000232603.5_Missense_Mutation_p.K860T					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCAGCTTTTTGTTCATCTG	0.358																																																0			3											129	117	121					3																	108688541		2203	4300	6503	110171231	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2516A>C	3.37:g.108688541T>G	ENSP00000417282:p.Lys839Thr		110171231		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	T	11.76	1.733277	0.30684	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.09073	3.02;3.07	5.12	1.21	0.21127	.	0.709603	0.12798	N	0.438232	T	0.05731	0.0150	L	0.27053	0.805	0.25390	N	0.98854	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.01	T	0.36261	-0.9755	10	0.52906	T	0.07	-8.0184	4.375	0.11267	0.0:0.1798:0.1696:0.6506	.	839;860	E7ERX1;Q86VD1	.;MORC1_HUMAN	T	860;839	ENSP00000232603:K860T;ENSP00000417282:K839T	ENSP00000232603:K860T	K	-	2	0	MORC1	110171231	0.972000	0.33761	0.821000	0.32701	0.616000	0.37450	0.674000	0.25218	0.119000	0.18210	0.528000	0.53228	AAA		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			G	108688541	T	G	108688541	3	3	434	1	0	0	0	0	1	0	0	0	9701	1841	64	5	387	5	MORC1	3	108688541	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09	54843377	108688541	89333889	18	23910											
NR3C2	4306	genome.wustl.edu	37	4	149357931	149357931	+	Missense_Mutation	SNP	G	G	A	rs576737645		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr4:149357931G>A	ENST00000358102.3	-	2	444	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	NR3C2_ENST00000512865.1_Missense_Mutation_p.R28C|NR3C2_ENST00000344721.4_Missense_Mutation_p.R28C|NR3C2_ENST00000355292.3_Missense_Mutation_p.R28C|NR3C2_ENST00000511528.1_Missense_Mutation_p.R28C	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	28	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AGGGAAGAACGCTCCACAGCC	0.468																																					Melanoma(27;428 957 40335 51025 51111)											0			4											104	94	97					4																	149357931		2203	4300	6503	149577381	SO:0001583	missense	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.82C>T	4.37:g.149357931G>A	ENSP00000350815:p.Arg28Cys		149577381	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885922	0.17540	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.16;-2.18;-2.57	6.02	6.02	0.97574	.	0.881138	0.10157	N	0.708780	T	0.78698	0.4324	L	0.29908	0.895	0.22240	N	0.999261	D;B	0.56968	0.978;0.389	B;B	0.32805	0.153;0.083	T	0.69978	-0.4998	9	.	.	.	.	7.9153	0.29814	0.1854:0.0:0.8146:0.0	.	28;28	B0ZBF5;B0ZBF6	.;.	C	28	ENSP00000341390:R28C;ENSP00000347441:R28C;ENSP00000350815:R28C;ENSP00000423510:R28C;ENSP00000343907:R28C;ENSP00000421481:R28C	.	R	-	1	0	NR3C2	149577381	0.961000	0.32948	0.114000	0.21550	0.579000	0.36224	4.670000	0.61583	2.865000	0.98341	0.655000	0.94253	CGT		0.468	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			A	149357931	G	A	149357931	3	1	434	1	0	0	0	0	1	0	0	0	10631	1087	38	1	2904	1	NR3C2	4	149357931	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09		149357931	41796345	19	23911											
IRX1	79192	genome.wustl.edu	37	5	3599675	3599675	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr5:3599675C>A	ENST00000302006.3	+	2	665	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	205					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGATGGAGCGCTCTTCGGCAG	0.632																																																0			5											75	66	69					5																	3599675		2203	4300	6503	3652675	SO:0001583	missense	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.613C>A	5.37:g.3599675C>A	ENSP00000305244:p.Leu205Ile		3652675	Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	0.633	-0.816552	0.02776	.	.	ENSG00000170549	ENST00000302006	T	0.58060	0.36	4.65	3.75	0.43078	.	0.569824	0.16638	N	0.205771	T	0.24699	0.0599	N	0.01267	-0.92	0.32815	D	0.50203	B	0.11235	0.004	B	0.13407	0.009	T	0.18871	-1.0323	10	0.35671	T	0.21	.	11.475	0.50293	0.4606:0.5394:0.0:0.0	.	205	P78414	IRX1_HUMAN	I	205	ENSP00000305244:L205I	ENSP00000305244:L205I	L	+	1	0	IRX1	3652675	0.062000	0.20869	0.996000	0.52242	0.381000	0.30169	0.192000	0.17096	0.870000	0.35726	0.609000	0.83330	CTC		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		A	3599675	C	A	3599675	3	1	434	1	0	0	0	0	1	0	0	0	7843	797	28	3	619	3	IRX1	5	3599675	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09		3599675	177315585	20	23912											
CDC20B	166979	genome.wustl.edu	37	5	54442551	54442551	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr5:54442551G>A	ENST00000381375.2	-	3	405	c.260C>T	c.(259-261)tCt>tTt	p.S87F	CDC20B_ENST00000322374.6_Missense_Mutation_p.S87F|CDC20B_ENST00000334206.5_Missense_Mutation_p.S87F|CDC20B_ENST00000296733.1_Missense_Mutation_p.S87F|CDC20B_ENST00000331730.3_Missense_Mutation_p.S66F			Q86Y33	CD20B_HUMAN	cell division cycle 20B	87										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			AAAGGAATCAGAGGACAGAGC	0.527											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			5											121	114	117					5																	54442551		2203	4300	6503	54478308	SO:0001583	missense	166979			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.260C>T	5.37:g.54442551G>A	ENSP00000370781:p.Ser87Phe	1000	54478308	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062949	0.36373	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.19105	3.05;3.05;3.05;3.05;2.17	4.44	1.43	0.22495	.	0.589102	0.15230	N	0.273448	T	0.19327	0.0464	L	0.36672	1.1	0.09310	N	1	P;P;B;P	0.48503	0.911;0.547;0.412;0.547	P;B;B;B	0.48141	0.568;0.26;0.133;0.347	T	0.10109	-1.0644	10	0.87932	D	0	-6.23	4.7907	0.13247	0.2089:0.2465:0.5446:0.0	.	87;87;87;87	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	F	87;87;87;87;66	ENSP00000335664:S87F;ENSP00000296733:S87F;ENSP00000370781:S87F;ENSP00000315720:S87F;ENSP00000330566:S66F	ENSP00000296733:S87F	S	-	2	0	CDC20B	54478308	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.633000	0.24598	0.133000	0.18654	0.650000	0.86243	TCT		0.527	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		A	54442551	G	A	54442551	3	1	434	1	0	0	0	0	1	0	0	0	3060	942	33	2	1339	2	CDC20B	5	54442551	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	50842876	54442551	126472709	21	23913											
BDP1	55814	genome.wustl.edu	37	5	70820123	70820123	+	Silent	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr5:70820123T>G	ENST00000358731.4	+	25	6008	c.5745T>G	c.(5743-5745)tcT>tcG	p.S1915S	BDP1_ENST00000380675.2_Silent_p.S52S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1915					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACCTGTTTCTGCTCAGATTG	0.393																																																0			5											109	110	109					5																	70820123		1841	4082	5923	70855879	SO:0001819	synonymous_variant	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5745T>G	5.37:g.70820123T>G			70855879	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	CCDS43328.1																																																																																				0.393	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		G	70820123	T	G	70820123	2	3	434	1	0	0	0	0	0	0	0	1	1395	1567	55	5		5	BDP1	5	70820123	Silent	SNP	T	TCGA-61-1904-01A-01W-0639-09	16377572	70820123	110095137	22	23914											
EPDR1	54749	genome.wustl.edu	37	7	37960471	37960471	+	5'UTR	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:37960471A>C	ENST00000199448.4	+	0	309				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000559325.1_Missense_Mutation_p.H97P|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGCGGGAGCCACTCTGATCCC	0.692																																																0			7											17	25	23					7																	37960471		2149	4238	6387	37926996	SO:0001623	5_prime_UTR_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-71A>C	7.37:g.37960471A>C			37926996	A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915991	0.33815	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	4.13	-8.27	0.01017	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	8	0.54805	T	0.06	0.4567	2.0222	0.03511	0.1477:0.3615:0.2808:0.21	.	97	A4D1W8	.	P	97;71	.	ENSP00000199448:H97P	H	+	2	0	EPDR1	37926996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.086000	0.11233	-1.939000	0.01044	-0.460000	0.05396	CAC		0.692	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		C	37960471	A	C	37960471	1	2	434	0	1	0	0	0	0	0	0	0	5163	159	6	5		5	EPDR1	7	37960471	5'UTR	SNP	A	TCGA-61-1904-01A-01W-0639-09		37960471	121178192	23	23915											
POM121	9883	genome.wustl.edu	37	7	72410439	72410439	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:72410439G>A	ENST00000434423.2	+	8	1495	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S	POM121_ENST00000358357.3_Missense_Mutation_p.G234S|POM121_ENST00000446813.1_Missense_Mutation_p.G234S|POM121_ENST00000257622.4_Missense_Mutation_p.G234S|POM121_ENST00000395270.1_Missense_Mutation_p.G234S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	499	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GTCTACACCTGGCAGCTCTGG	0.512																																																0			7											29	32	31					7																	72410439		2055	4217	6272	72048375	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1495G>A	7.37:g.72410439G>A	ENSP00000405562:p.Gly499Ser		72048375	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	G	11.49	1.653433	0.29425	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	3.34	2.44	0.29823	.	0.000000	0.36002	U	0.002858	T	0.17450	0.0419	L	0.59436	1.845	0.38120	D	0.937813	P;P	0.40638	0.639;0.725	B;P	0.46718	0.28;0.525	T	0.07868	-1.0750	10	0.23891	T	0.37	.	8.1366	0.31058	0.1179:0.0:0.8821:0.0	.	234;499	A8MXF9;Q96HA1	.;P121A_HUMAN	S	234;234;234;234;499	ENSP00000393020:G234S;ENSP00000257622:G234S;ENSP00000378687:G234S;ENSP00000351124:G234S;ENSP00000405562:G499S	ENSP00000257622:G234S	G	+	1	0	POM121	72048375	0.998000	0.40836	0.972000	0.41901	0.127000	0.20565	3.112000	0.50368	0.735000	0.32537	0.391000	0.25812	GGC		0.512	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			A	72410439	G	A	72410439	3	1	434	1	0	0	0	0	1	0	0	0	12239	1348	47	2	726	2	POM121	7	72410439	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	34449968	72410439	86728224	24	23916											
ELN	2006	genome.wustl.edu	37	7	73456945	73456945	+	Splice_Site	SNP	G	G	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:73456945G>C	ENST00000252034.7	+	6	633	c.234G>C	c.(232-234)ggG>ggC	p.G78G	ELN_ENST00000380575.4_Splice_Site_p.G68G|ELN_ENST00000380562.4_Splice_Site_p.G78G|ELN_ENST00000380576.5_Splice_Site_p.G78G|ELN_ENST00000320399.6_Splice_Site_p.G78G|ELN_ENST00000320492.7_Splice_Site_p.G66G|ELN_ENST00000458204.1_Splice_Site_p.G68G|ELN_ENST00000380553.4_Intron|ELN_ENST00000357036.5_Splice_Site_p.G78G|ELN_ENST00000380584.4_Splice_Site_p.G78G|ELN_ENST00000414324.1_Splice_Site_p.G68G|ELN_ENST00000429192.1_Splice_Site_p.G78G|ELN_ENST00000445912.1_Splice_Site_p.G78G|ELN_ENST00000358929.4_Splice_Site_p.G78G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	78					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCTCCGCAGGGCTCGGCGCCT	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	0			7											62	62	62					7																	73456945		2203	4300	6503	73094881	SO:0001630	splice_region_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.233-1G>C	7.37:g.73456945G>C			73094881	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																				0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	Silent	C	73456945	G	C	73456945	5	2	434	1	0	0	0	0	0	0	1	0	5071	1217	42	3	256	3	ELN	7	73456945	Splice_Site	SNP	G	TCGA-61-1904-01A-01W-0639-09	1046506	73456945	85681718	25	23917											
ABCB4	5244	genome.wustl.edu	37	7	87069035	87069035	+	Missense_Mutation	SNP	G	G	A	rs185760690		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:87069035G>A	ENST00000265723.4	-	14	1790	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	ABCB4_ENST00000358400.3_Missense_Mutation_p.T560M|ABCB4_ENST00000359206.3_Missense_Mutation_p.T560M|ABCB4_ENST00000545634.1_Missense_Mutation_p.T560M|ABCB4_ENST00000453593.1_Missense_Mutation_p.T560M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	560	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CAATGCTGACGTGGCCTCATC	0.542													G|||	1	0.000199681	0	0	5008	,	,		16739	0		0.001	False		,,,				2504	0															0			7											151	133	139					7																	87069035		2203	4300	6503	86906971	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1679C>T	7.37:g.87069035G>A	ENSP00000265723:p.Thr560Met		86906971	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.7	4.443651	0.83993	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.55	4.67	0.58626	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.94732	0.8300	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95657	0.8712	10	0.87932	D	0	-13.1352	14.1929	0.65649	0.0719:0.0:0.9281:0.0	.	560;560;560	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	M	560	ENSP00000352135:T560M;ENSP00000351172:T560M;ENSP00000265723:T560M;ENSP00000392983:T560M;ENSP00000437465:T560M	ENSP00000265723:T560M	T	-	2	0	ABCB4	86906971	1.000000	0.71417	0.866000	0.34008	0.980000	0.70556	6.782000	0.75073	1.334000	0.45468	0.655000	0.94253	ACG		0.542	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		A	87069035	G	A	87069035	3	1	434	1	0	0	0	0	1	0	0	0	43	1145	40	1	2241	1	ABCB4	7	87069035	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	13612090	87069035	72069628	26	23918											
CYP3A43	64816	genome.wustl.edu	37	7	99459331	99459331	+	Silent	SNP	G	G	C	rs201421130		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:99459331G>C	ENST00000354829.2	+	11	1225	c.1122G>C	c.(1120-1122)acG>acC	p.T374T	CYP3A43_ENST00000417625.1_Silent_p.T264T|CYP3A43_ENST00000444905.1_Silent_p.T121T|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Silent_p.T234T|CYP3A43_ENST00000415413.1_Silent_p.T163T|CYP3A43_ENST00000312017.5_Silent_p.T374T|CYP3A43_ENST00000222382.5_Silent_p.T374T	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	374			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GTAGAGTTACGAGAGTCTGCA	0.453																																																0			7						G	,,	0,4406		0,0,2203	118	105	109		1122,1122,1122	-1.6	0	7		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CYP3A43	NM_022820.3,NM_057095.1,NM_057096.2	,,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,,	374/505,374/504,374/421	99459331	1,13005	2203	4300	6503	99297267	SO:0001819	synonymous_variant	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1122G>C	7.37:g.99459331G>C			99297267	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	CCDS5676.1																																																																																				0.453	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			C	99459331	G	C	99459331	2	2	434	1	0	0	0	0	0	0	0	1	4179	1045	37	3		3	CYP3A43	7	99459331	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	12390296	99459331	59679332	27	23919											
LRCH4	4034	genome.wustl.edu	37	7	100174627	100174627	+	Splice_Site	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:100174627C>T	ENST00000310300.6	-	13	1418	c.1366G>A	c.(1366-1368)Ggc>Agc	p.G456S	LRCH4_ENST00000497245.1_Splice_Site_p.G4S	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	456					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTAGGCGAGCCGCTGAGGAGA	0.632																																																0			7											60	56	58					7																	100174627		2203	4299	6502	100012563	SO:0001630	splice_region_variant	4034			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1365-1G>A	7.37:g.100174627C>T			100012563	A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	C	2.369	-0.344899	0.05208	.	.	ENSG00000077454	ENST00000310300;ENST00000497245	T;T	0.49720	1.48;0.77	4.03	0.127	0.14727	.	0.590562	0.16528	N	0.210482	T	0.25005	0.0607	N	0.20986	0.625	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.22695	-1.0209	10	0.08837	T	0.75	-7.0035	6.5848	0.22614	0.0:0.5846:0.0:0.4154	.	456	O75427	LRCH4_HUMAN	S	456;4	ENSP00000309689:G456S;ENSP00000419870:G4S	ENSP00000309689:G456S	G	-	1	0	LRCH4	100012563	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.613000	0.05610	0.129000	0.18514	-0.272000	0.10252	GGC		0.632	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319	Missense_Mutation	T	100174627	C	T	100174627	5	4	434	1	0	0	0	0	0	0	1	0	8935	666	23	1	709	1	LRCH4	7	100174627	Splice_Site	SNP	C	TCGA-61-1904-01A-01W-0639-09	715296	100174627	58964036	28	23920											
ZAN	7455	genome.wustl.edu	37	7	100369562	100369562	+	RNA	SNP	C	C	T	rs200480489		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:100369562C>T	ENST00000348028.3	+	0	5509				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCACAGCCCTGTGCCGCTC	0.652																																																0			7											47	51	50					7																	100369562		2144	4233	6377	100207498			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369562C>T			100207498	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37																																																																																					0.652	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		T	100369562	C	T	100369562	1	4	434	0	1	0	0	0	0	0	0	0	17513	680	24	2		2	ZAN	7	100369562	RNA	SNP	C	TCGA-61-1904-01A-01W-0639-09	194935	100369562	58769101	29	23921											
SLC26A3	1811	genome.wustl.edu	37	7	107423751	107423751	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:107423751C>T	ENST00000340010.5	-	9	1202	c.1018G>A	c.(1018-1020)Gta>Ata	p.V340I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V305I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	340					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCTCCTACGGTGTTTTGG	0.418																																																0			7											87	85	86					7																	107423751		2203	4300	6503	107210987	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1018G>A	7.37:g.107423751C>T	ENSP00000345873:p.Val340Ile		107210987		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	T	2.337	-0.352052	0.05173	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92699	-3.09;-3.09	5.28	5.28	0.74379	Sulphate transporter (1);	0.146062	0.64402	N	0.000011	T	0.74589	0.3736	N	0.02685	-0.53	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.62909	-0.6754	10	0.02654	T	1	.	4.587	0.12287	0.1336:0.2153:0.0:0.6511	.	305;340	G5E9U3;P40879	.;S26A3_HUMAN	I	305;340	ENSP00000415817:V305I;ENSP00000345873:V340I	ENSP00000345873:V340I	V	-	1	0	SLC26A3	107210987	0.016000	0.18221	0.905000	0.35620	0.099000	0.18886	0.293000	0.19029	0.947000	0.37659	-0.254000	0.11334	GTA		0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		T	107423751	C	T	107423751	3	4	434	1	0	0	0	0	1	0	0	0	14521	536	19	1	1328	1	SLC26A3	7	107423751	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	7054189	107423751	51714912	30	23922											
FLNC	2318	genome.wustl.edu	37	7	128490478	128490478	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:128490478C>A	ENST00000325888.8	+	32	5600	c.5339C>A	c.(5338-5340)tCc>tAc	p.S1780Y	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S1747Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1780					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAATGGAGTCCATGCTGAGG	0.622																																																0			7											122	132	129					7																	128490478		2014	4181	6195	128277714	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5339C>A	7.37:g.128490478C>A	ENSP00000327145:p.Ser1780Tyr		128277714	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371021	0.82573	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86562	-2.04;-2.14	5.53	5.53	0.82687	Immunoglobulin E-set (1);	0.187010	0.47455	D	0.000235	D	0.88273	0.6392	L	0.34521	1.04	0.36844	D	0.887577	P;P	0.40107	0.531;0.703	B;P	0.53266	0.269;0.722	D	0.90909	0.4774	10	0.66056	D	0.02	.	15.7	0.77536	0.0:0.8628:0.1372:0.0	.	1747;1780	Q14315-2;Q14315	.;FLNC_HUMAN	Y	1780;1747	ENSP00000327145:S1780Y;ENSP00000344002:S1747Y	ENSP00000327145:S1780Y	S	+	2	0	FLNC	128277714	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.989000	0.70587	2.584000	0.87258	0.655000	0.94253	TCC		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			A	128490478	C	A	128490478	3	1	434	1	0	0	0	0	1	0	0	0	5935	855	30	3	5465	3	FLNC	7	128490478	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	21066727	128490478	30648185	31	23923											
FAM131B	9715	genome.wustl.edu	37	7	143055947	143055947	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr7:143055947C>T	ENST00000409408.1	-	4	2063	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	FAM131B_ENST00000409578.1_Missense_Mutation_p.G135S|FAM131B_ENST00000409346.1_Missense_Mutation_p.G119S|FAM131B_ENST00000443739.2_Missense_Mutation_p.G147S|FAM131B_ENST00000409222.3_Missense_Mutation_p.G119S			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	119										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCCTTCTCGCCATCGCTGAGG	0.582																																																0			7											88	80	83					7																	143055947		2203	4299	6502	142766069	SO:0001583	missense	9715			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.355G>A	7.37:g.143055947C>T	ENSP00000387017:p.Gly119Ser		142766069	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441000	0.83993	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.26	5.26	0.73747	.	0.147367	0.64402	D	0.000013	T	0.72463	0.3463	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.89917	0.987;1.0	P;D	0.70935	0.849;0.971	T	0.75560	-0.3275	10	0.72032	D	0.01	-16.1899	18.8528	0.92240	0.0:1.0:0.0:0.0	.	135;119	Q86XD5-2;Q86XD5	.;F131B_HUMAN	S	147;135;119;123;119;119	ENSP00000410603:G147S;ENSP00000386568:G135S;ENSP00000386984:G119S;ENSP00000387017:G119S;ENSP00000387147:G119S	ENSP00000387147:G119S	G	-	1	0	FAM131B	142766069	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	5.764000	0.68826	2.442000	0.82660	0.561000	0.74099	GGC		0.582	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		T	143055947	C	T	143055947	3	4	434	1	0	0	0	0	1	0	0	0	5440	594	21	2	655	2	FAM131B	7	143055947	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	14565469	143055947	16082716	32	23924											
MYOM2	9172	genome.wustl.edu	37	8	2000286	2000286	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr8:2000286A>G	ENST00000262113.4	+	3	259	c.118A>G	c.(118-120)Acc>Gcc	p.T40A	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	40					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCGAGCTTCCACCCAGGCATC	0.537																																																0			8											220	195	203					8																	2000286		2203	4300	6503	1987693	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.118A>G	8.37:g.2000286A>G	ENSP00000262113:p.Thr40Ala		1987693	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	A	8.017	0.758730	0.15846	.	.	ENSG00000036448	ENST00000262113	T	0.40225	1.04	4.71	-6.29	0.02013	.	1.527510	0.04186	N	0.327415	T	0.19644	0.0472	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29488	-1.0010	10	0.02654	T	1	.	4.1134	0.10070	0.2715:0.0:0.3353:0.3932	.	40	P54296	MYOM2_HUMAN	A	40	ENSP00000262113:T40A	ENSP00000262113:T40A	T	+	1	0	MYOM2	1987693	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.695000	0.25527	-0.930000	0.03752	-0.250000	0.11733	ACC		0.537	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		G	2000286	A	G	2000286	3	3	434	1	0	0	0	0	1	0	0	0	10092	159	6	4	124	4	MYOM2	8	2000286	Missense_Mutation	SNP	A	TCGA-61-1904-01A-01W-0639-09		2000286	144363736	33	23925											
BAI1	575	genome.wustl.edu	37	8	143570739	143570739	+	Silent	SNP	G	G	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr8:143570739G>C	ENST00000517894.1	+	16	3465	c.2571G>C	c.(2569-2571)gtG>gtC	p.V857V	BAI1_ENST00000323289.5_Silent_p.V857V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	857					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGTGACTGTGAAACCCCCGC	0.597																																																0			8											103	113	110					8																	143570739		2049	4202	6251	143567741	SO:0001819	synonymous_variant	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2571G>C	8.37:g.143570739G>C			143567741		Silent	SNP	ENST00000517894.1	37																																																																																					0.597	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		C	143570739	G	C	143570739	2	2	434	1	0	0	0	0	0	0	0	1	1298	1277	45	3		3	BAI1	8	143570739	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	141570453	143570739	2793283	34	23926											
SHC3	53358	genome.wustl.edu	37	9	91690117	91690117	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr9:91690117G>A	ENST00000375835.4	-	4	942	c.636C>T	c.(634-636)atC>atT	p.I212I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	212	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TCTTTCCCAAGATGCTGGACA	0.488																																																0			9											146	131	136					9																	91690117		2203	4300	6503	90879937	SO:0001819	synonymous_variant	53358			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.636C>T	9.37:g.91690117G>A			90879937	Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	CCDS6681.1																																																																																				0.488	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		A	91690117	G	A	91690117	2	1	434	1	0	0	0	0	0	0	0	1	14275	932	33	2		2	SHC3	9	91690117	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09		91690117	49523314	35	23927											
SVEP1	79987	genome.wustl.edu	37	9	113169816	113169816	+	Silent	SNP	T	T	C	rs116159392	byFrequency	TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr9:113169816T>C	ENST00000401783.2	-	38	8400	c.8064A>G	c.(8062-8064)ggA>ggG	p.G2688G	SVEP1_ENST00000297826.5_Silent_p.G614G|SVEP1_ENST00000374469.1_Silent_p.G2665G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2688	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAGTTCATATCCTGGATTAC	0.453													T|||	207	0.0413339	0.149	0.0144	5008	,	,		22581	0		0	False		,,,				2504	0															0			9						T		461,3353		27,407,1473	169	166	167		8064	-6.8	0.9	9	dbSNP_132	167	5,8265		0,5,4130	no	coding-synonymous	SVEP1	NM_153366.3		27,412,5603	CC,CT,TT		0.0605,12.087,3.8563		2688/3572	113169816	466,11618	1907	4135	6042	112209637	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8064A>G	9.37:g.113169816T>C			112209637	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113169816	T	C	113169816	2	2	434	1	0	0	0	0	0	0	0	1	15420	1422	50	4		4	SVEP1	9	113169816	Silent	SNP	T	TCGA-61-1904-01A-01W-0639-09	21479699	113169816	28043615	36	23928											
SVEP1	79987	genome.wustl.edu	37	9	113170323	113170323	+	Silent	SNP	G	G	A	rs111722103	byFrequency	TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr9:113170323G>A	ENST00000401783.2	-	38	7893	c.7557C>T	c.(7555-7557)acC>acT	p.T2519T	SVEP1_ENST00000297826.5_Silent_p.T445T|SVEP1_ENST00000374469.1_Silent_p.T2496T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2519	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.			T -> I (in Ref. 6; CAD97901). {ECO:0000305}.	cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTAGGTAACGGTCTGTCCAT	0.488													G|||	154	0.0307508	0.1097	0.013	5008	,	,		21854	0		0	False		,,,				2504	0															0			9						G		334,3532		13,308,1612	49	48	49		7557	-1.3	0	9	dbSNP_132	49	5,8261		0,5,4128	no	coding-synonymous	SVEP1	NM_153366.3		13,313,5740	AA,AG,GG		0.0605,8.6394,2.7943		2519/3572	113170323	339,11793	1933	4133	6066	112210144	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7557C>T	9.37:g.113170323G>A			112210144	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113170323	G	A	113170323	2	1	434	1	0	0	0	0	0	0	0	1	15420	1103	39	1		1	SVEP1	9	113170323	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	507	113170323	28043108	37	23929											
DIP2C	22982	genome.wustl.edu	37	10	375384	375384	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr10:375384C>T	ENST00000280886.6	-	30	3829	c.3742G>A	c.(3742-3744)Gag>Aag	p.E1248K		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1248						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTGAGGGACTCTGTTTGCGAG	0.552																																																0			10											43	38	39					10																	375384		2203	4300	6503	365384	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3742G>A	10.37:g.375384C>T	ENSP00000280886:p.Glu1248Lys		365384	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.27|16.27	3.074634|3.074634	0.55646|0.55646	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000280886;ENST00000535541;ENST00000381503|ENST00000434695	T|.	0.40756|.	1.02|.	5.85|5.85	5.85|5.85	0.93711|0.93711	AMP-dependent synthetase/ligase (1);|.	0.098864|.	0.64402|.	D|.	0.000001|.	T|T	0.67988|0.67988	0.2952|0.2952	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	B|.	0.20780|.	0.048|.	B|.	0.29440|.	0.102|.	T|T	0.61579|0.61579	-0.7034|-0.7034	10|5	0.07325|.	T|.	0.83|.	-35.3164|-35.3164	20.1577|20.1577	0.98120|0.98120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1248|.	Q9Y2E4|.	DIP2C_HUMAN|.	K|K	1248;173;97|53	ENSP00000280886:E1248K|.	ENSP00000280886:E1248K|.	E|R	-|-	1|2	0|0	DIP2C|DIP2C	365384|365384	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.585000|0.585000	0.36419|0.36419	7.800000|7.800000	0.85949|0.85949	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.552	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	375384	C	T	375384	3	4	434	1	0	0	0	0	1	0	0	0	4529	922	32	2	960	2	DIP2C	10	375384	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09		375384	135159363	38	23930											
ZNF33A	7581	genome.wustl.edu	37	10	38344203	38344203	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr10:38344203C>T	ENST00000458705.2	+	5	1306	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	ZNF33A_ENST00000432900.2_Missense_Mutation_p.P390L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.P384L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.P383L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	383					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGGGAGAAACCTTTTGAATGC	0.418																																																0			10											83	84	84					10																	38344203		2203	4300	6503	38384209	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1148C>T	10.37:g.38344203C>T	ENSP00000387713:p.Pro383Leu		38384209	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434345	0.62955	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	2.34	2.34	0.29019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35772	N	0.002986	T	0.50429	0.1615	M	0.72479	2.2	0.45867	D	0.998721	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.97110	0.999;1.0;0.723	T	0.54503	-0.8284	10	0.87932	D	0	.	10.3348	0.43844	0.0:1.0:0.0:0.0	.	390;383;384	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	384;390;383;383	ENSP00000363747:P384L;ENSP00000402467:P390L;ENSP00000387713:P383L;ENSP00000304268:P383L	ENSP00000304268:P383L	P	+	2	0	ZNF33A	38384209	0.997000	0.39634	0.755000	0.31263	0.981000	0.71138	3.829000	0.55760	1.281000	0.44480	0.460000	0.39030	CCT		0.418	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		T	38344203	C	T	38344203	3	4	434	1	0	0	0	0	1	0	0	0	17854	681	24	2	1165	2	ZNF33A	10	38344203	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	37968819	38344203	97190544	39	23931											
TCERG1L	256536	genome.wustl.edu	37	10	132965097	132965097	+	Missense_Mutation	SNP	C	C	T	rs528779135		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr10:132965097C>T	ENST00000368642.4	-	5	993	c.908G>A	c.(907-909)cGg>cAg	p.R303Q		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	303										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTTCTGGGCCCGCAGCATCAG	0.557													C|||	1	0.000199681	0	0	5008	,	,		18245	0		0	False		,,,				2504	0.001															0			10											68	58	61					10																	132965097		2203	4300	6503	132855087	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.908G>A	10.37:g.132965097C>T	ENSP00000357631:p.Arg303Gln		132855087	Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	9.996	1.232119	0.22626	.	.	ENSG00000176769	ENST00000368642	T	0.24538	1.85	2.4	-4.8	0.03190	.	0.872222	0.09666	N	0.771851	T	0.10594	0.0259	N	0.22421	0.69	0.09310	N	0.999999	P	0.38745	0.645	B	0.27262	0.078	T	0.14420	-1.0473	10	0.31617	T	0.26	-0.6135	6.3795	0.21525	0.0:0.5738:0.1862:0.24	.	303	Q5VWI1	TCRGL_HUMAN	Q	303	ENSP00000357631:R303Q	ENSP00000357631:R303Q	R	-	2	0	TCERG1L	132855087	0.002000	0.14202	0.007000	0.13788	0.023000	0.10783	-0.884000	0.04166	-1.312000	0.02306	-0.440000	0.05779	CGG		0.557	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		T	132965097	C	T	132965097	3	4	434	1	0	0	0	0	1	0	0	0	15686	652	23	1	884	1	TCERG1L	10	132965097	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	94620894	132965097	2569650	40	23932											
UCP3	7352	genome.wustl.edu	37	11	73715551	73715551	+	Silent	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr11:73715551C>G	ENST00000314032.4	-	5	1173	c.621G>C	c.(619-621)ctG>ctC	p.L207L	UCP3_ENST00000426995.2_Silent_p.L207L|UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	207					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GGTAGTCCAGCAGCTTCTCCT	0.597																																																0			11											146	109	122					11																	73715551		2200	4293	6493	73393199	SO:0001819	synonymous_variant	7352			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.621G>C	11.37:g.73715551C>G			73393199	O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	CCDS8229.1																																																																																				0.597	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		G	73715551	C	G	73715551	2	3	434	1	0	0	0	0	0	0	0	1	16932	697	25	3		3	UCP3	11	73715551	Silent	SNP	C	TCGA-61-1904-01A-01W-0639-09		73715551	61290965	41	23933											
PAK1	5058	genome.wustl.edu	37	11	77066712	77066712	+	Splice_Site	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr11:77066712C>A	ENST00000356341.3	-	7	1304		c.e7+1		PAK1_ENST00000278568.4_Splice_Site|PAK1_ENST00000528203.1_Splice_Site|PAK1_ENST00000530617.1_Splice_Site|PAK1_ENST00000525542.1_Intron	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1						actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AAATTCCTTACGTAATTTCTC	0.448																																																0			11											214	207	209					11																	77066712		2200	4292	6492	76744360	SO:0001630	splice_region_variant	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.772+1G>T	11.37:g.77066712C>A			76744360	O75561|Q13567|Q32M53|Q32M54|Q86W79	Splice_Site	SNP	ENST00000356341.3	37	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999923	0.74818	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7793	0.91925	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PAK1	76744360	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.397000	0.73239	2.769000	0.95229	0.491000	0.48974	.		0.448	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576	Intron	A	77066712	C	A	77066712	5	1	434	1	0	0	0	0	0	0	1	0	11399	550	19	3	953	3	PAK1	11	77066712	Splice_Site	SNP	C	TCGA-61-1904-01A-01W-0639-09	3351161	77066712	57939804	42	23934											
SIDT2	51092	genome.wustl.edu	37	11	117052786	117052786	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr11:117052786C>G	ENST00000324225.4	+	4	1012	c.481C>G	c.(481-483)Cag>Gag	p.Q161E	SIDT2_ENST00000530948.1_Intron|SIDT2_ENST00000431081.2_Missense_Mutation_p.Q161E	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	161					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GACTGGGGAGCAGTTCAGCTT	0.592																																																0			11											42	44	43					11																	117052786		2201	4296	6497	116557996	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.481C>G	11.37:g.117052786C>G	ENSP00000314023:p.Gln161Glu		116557996	Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	C	3.530	-0.096032	0.07010	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842;ENST00000531353	T;T;T	0.15952	2.39;2.38;2.39	5.14	5.14	0.70334	.	0.574224	0.18245	N	0.147137	T	0.11623	0.0283	L	0.36672	1.1	0.24844	N	0.992445	B;B;B;B	0.16396	0.008;0.002;0.017;0.004	B;B;B;B	0.18871	0.023;0.004;0.019;0.017	T	0.36359	-0.9751	10	0.02654	T	1	-1.6453	10.3132	0.43721	0.1497:0.7056:0.1447:0.0	.	161;161;161;161	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	E	161;161;161;11;60	ENSP00000314023:Q161E;ENSP00000278951:Q161E;ENSP00000399635:Q161E	ENSP00000278951:Q161E	Q	+	1	0	SIDT2	116557996	0.988000	0.35896	1.000000	0.80357	0.979000	0.70002	2.622000	0.46427	2.676000	0.91093	0.561000	0.74099	CAG		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		G	117052786	C	G	117052786	3	3	434	1	0	0	0	0	1	0	0	0	14306	711	25	3	495	3	SIDT2	11	117052786	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	39986074	117052786	17953730	43	23935											
ADAMTS8	11095	genome.wustl.edu	37	11	130289026	130289026	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr11:130289026G>A	ENST00000257359.6	-	2	1588	c.882C>T	c.(880-882)tgC>tgT	p.C294C		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	294	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCTGCCAGTTGCAGAAGTTAC	0.577																																																0			11											143	154	151					11																	130289026		2032	4185	6217	129794236	SO:0001819	synonymous_variant	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.882C>T	11.37:g.130289026G>A			129794236	Q9NZS0	Silent	SNP	ENST00000257359.6	37	CCDS41732.1																																																																																				0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		A	130289026	G	A	130289026	2	1	434	1	0	0	0	0	0	0	0	1	272	1311	46	2		2	ADAMTS8	11	130289026	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	13236240	130289026	4717490	44	23936											
ACRBP	84519	genome.wustl.edu	37	12	6753370	6753370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:6753370G>A	ENST00000229243.2	-	5	970	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000536350.1_Nonsense_Mutation_p.Q293*|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.Q260*	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TCTATTTCCTGGGCTGATCGA	0.438																																																0			12											99	101	101					12																	6753370		2203	4300	6503	6623631	SO:0001587	stop_gained	84519			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"proacrosin binding protein sp32", "cancer/testis antigen 23"	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.877C>T	12.37:g.6753370G>A	ENSP00000229243:p.Gln293*		6623631		Nonsense_Mutation	SNP	ENST00000229243.2	37	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364157	0.41902	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	.	.	.	4.55	4.55	0.56014	.	0.351811	0.24366	N	0.039159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-6.6847	12.6808	0.56920	0.0:0.0:1.0:0.0	.	.	.	.	X	293;260;293	.	ENSP00000229243:Q293X	Q	-	1	0	ACRBP	6623631	1.000000	0.71417	0.777000	0.31699	0.094000	0.18550	2.734000	0.47368	2.352000	0.79861	0.561000	0.74099	CAG		0.438	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		A	6753370	G	A	6753370	4	1	434	1	0	0	0	0	0	1	0	0	170	1357	47	2	778	2	ACRBP	12	6753370	Nonsense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09		6753370	127098525	45	23937											
LRRK2	120892	genome.wustl.edu	37	12	40728867	40728867	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:40728867G>A	ENST00000298910.7	+	40	5914	c.5856G>A	c.(5854-5856)aaG>aaA	p.K1952K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1952	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGCCTCCAAGGGTTCCTTGG	0.542																																																0			12											126	116	119					12																	40728867		2203	4300	6503	39015134	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5856G>A	12.37:g.40728867G>A			39015134	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.542	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40728867	G	A	40728867	2	1	434	1	0	0	0	0	0	0	0	1	9033	991	35	2		2	LRRK2	12	40728867	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	33975497	40728867	93123028	46	23938											
NCKAP5L	57701	genome.wustl.edu	37	12	50188845	50188845	+	Missense_Mutation	SNP	C	C	G	rs74484201	byFrequency	TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:50188845C>G	ENST00000335999.6	-	8	2999	c.2798G>C	c.(2797-2799)cGc>cCc	p.R933P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	929										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTCTGTGCGGCGGTTCAGCGC	0.677																																																0			12											13	15	14					12																	50188845		1958	4140	6098	48475112	SO:0001583	missense	57701			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2798G>C	12.37:g.50188845C>G	ENSP00000337998:p.Arg933Pro		48475112	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240781	0.79912	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.60424	0.19	5.23	5.23	0.72850	.	0.000000	0.42294	D	0.000736	T	0.73636	0.3612	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.74785	-0.3547	10	0.59425	D	0.04	-16.6534	17.9588	0.89078	0.0:1.0:0.0:0.0	.	907;929;929	E2QRB5;Q9HCH0;Q9HCH0-2	.;NCK5L_HUMAN;.	P	933;907	ENSP00000337998:R933P	ENSP00000337998:R933P	R	-	2	0	NCKAP5L	48475112	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.644000	0.61397	2.619000	0.88677	0.462000	0.41574	CGC		0.677	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		G	50188845	C	G	50188845	3	3	434	1	0	0	0	0	1	0	0	0	10224	768	27	3	1230	3	NCKAP5L	12	50188845	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	9459978	50188845	83663050	47	23939											
NCKAP5L	57701	genome.wustl.edu	37	12	50197743	50197743	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:50197743T>G	ENST00000335999.6	-	3	286	c.85A>C	c.(85-87)Acc>Ccc	p.T29P	NCKAP5L_ENST00000480927.1_5'Flank	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	25										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TCCTGGCAGGTGCCTGGCTCC	0.672																																																0			12											75	82	80					12																	50197743		1993	4172	6165	48484010	SO:0001583	missense	0			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.85A>C	12.37:g.50197743T>G	ENSP00000337998:p.Thr29Pro		48484010	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	T	12.77	2.037343	0.35989	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.47869	0.83	5.55	3.22	0.36961	.	.	.	.	.	T	0.31888	0.0811	N	0.24115	0.695	0.24761	N	0.992928	B	0.02656	0.0	B	0.04013	0.001	T	0.18524	-1.0334	9	0.42905	T	0.14	-8.2324	7.6281	0.28224	0.0:0.1697:0.0:0.8303	.	25	E2QRB5	.	P	29;25	ENSP00000337998:T29P	ENSP00000337998:T29P	T	-	1	0	NCKAP5L	48484010	0.995000	0.38212	0.835000	0.33067	0.542000	0.35054	2.536000	0.45693	0.923000	0.37045	-0.441000	0.05720	ACC		0.672	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		G	50197743	T	G	50197743	3	3	434	1	0	0	0	0	1	0	0	0	10224	1696	59	5	3963	5	NCKAP5L	12	50197743	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09	8898	50197743	83654152	48	23940											
PAN2	9924	genome.wustl.edu	37	12	56716857	56716857	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:56716857C>G	ENST00000425394.2	-	17	2870	c.2494G>C	c.(2494-2496)Gat>Cat	p.D832H	PAN2_ENST00000440411.3_Missense_Mutation_p.D828H|PAN2_ENST00000257931.5_Missense_Mutation_p.D831H|PAN2_ENST00000548043.1_Missense_Mutation_p.D832H	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	157					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGCATCTCATCCCCATCAGTC	0.488																																																0			12											145	145	145					12																	56716857		2203	4300	6503	55003124	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2494G>C	12.37:g.56716857C>G	ENSP00000401721:p.Asp832His		55003124		Missense_Mutation	SNP	ENST00000425394.2	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	9.609	1.130879	0.21041	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.45	2.57	0.30868	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.599517	0.17999	N	0.154972	T	0.21631	0.0521	L	0.48642	1.525	0.30497	N	0.770755	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.003;0.003;0.006	T	0.11916	-1.0568	10	0.45353	T	0.12	-0.6816	8.6314	0.33922	0.0:0.7521:0.1597:0.0882	.	831;828;832	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	H	832;828;831;832	ENSP00000401721:D832H;ENSP00000388231:D828H;ENSP00000257931:D831H;ENSP00000449861:D832H	ENSP00000257931:D831H	D	-	1	0	PAN2	55003124	0.902000	0.30710	1.000000	0.80357	0.844000	0.47949	1.472000	0.35376	0.594000	0.29761	0.555000	0.69702	GAT		0.488	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		G	56716857	C	G	56716857	3	3	434	1	0	0	0	0	1	0	0	0	11414	855	30	3	1154	3	PAN2	12	56716857	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	6519114	56716857	77135038	49	23941											
POLR3B	55703	genome.wustl.edu	37	12	106838353	106838353	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:106838353G>A	ENST00000228347.4	+	19	2290	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	POLR3B_ENST00000539066.1_Missense_Mutation_p.G632R	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	690					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGTGCCATGGGGAAACAAGC	0.438																																																0			12											131	103	113					12																	106838353		2203	4300	6503	105362483	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2068G>A	12.37:g.106838353G>A	ENSP00000228347:p.Gly690Arg		105362483	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055400	0.93793	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.78595	-1.19;-1.19	5.38	5.38	0.77491	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95767	0.8805	10	0.87932	D	0	-4.0804	19.1333	0.93415	0.0:0.0:1.0:0.0	.	690	Q9NW08	RPC2_HUMAN	R	690;632	ENSP00000228347:G690R;ENSP00000445721:G632R	ENSP00000228347:G690R	G	+	1	0	POLR3B	105362483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.532000	0.85374	0.650000	0.86243	GGG		0.438	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		A	106838353	G	A	106838353	3	1	434	1	0	0	0	0	1	0	0	0	12229	1232	43	2	2142	2	POLR3B	12	106838353	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	50121496	106838353	27013542	50	23942											
C12orf51	283450	genome.wustl.edu	37	12	112681535	112681535	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr12:112681535G>A	ENST00000430131.2	-	30	4559	c.3414C>T	c.(3412-3414)agC>agT	p.S1138S	HECTD4_ENST00000550722.1_Silent_p.S1414S|HECTD4_ENST00000377560.5_Silent_p.S1388S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1138					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGTAAAGGAGCTGCTGCGGT	0.562																																																0			12											62	69	66					12																	112681535		2197	4295	6492	111165918	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3414C>T	12.37:g.112681535G>A			111165918	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																					0.562	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		A	112681535	G	A	112681535	2	1	434	1	0	0	0	0	0	0	0	1	1696	962	34	2		2	C12orf51	12	112681535	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	5843182	112681535	21170360	51	23943											
PDS5B	23047	genome.wustl.edu	37	13	33281093	33281093	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:33281093A>G	ENST00000315596.10	+	18	2065	c.1879A>G	c.(1879-1881)Aaa>Gaa	p.K627E		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	627					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ACAAGTGAACAAATCAATAGA	0.323																																																0			13											96	94	94					13																	33281093		1872	4098	5970	32179093	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1879A>G	13.37:g.33281093A>G	ENSP00000313851:p.Lys627Glu		32179093	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359914	0.61403	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	L	0.31065	0.9	0.58432	D	0.999999	P	0.35923	0.528	B	0.36289	0.221	T	0.38993	-0.9635	9	0.07644	T	0.81	-9.2359	16.3469	0.83138	1.0:0.0:0.0:0.0	.	627	Q9NTI5	PDS5B_HUMAN	E	627	.	ENSP00000313851:K627E	K	+	1	0	PDS5B	32179093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.181000	0.94874	2.263000	0.75096	0.528000	0.53228	AAA		0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		G	33281093	A	G	33281093	3	3	434	1	0	0	0	0	1	0	0	0	11692	131	5	4	1945	4	PDS5B	13	33281093	Missense_Mutation	SNP	A	TCGA-61-1904-01A-01W-0639-09		33281093	81888785	52	23944											
FOXO1	2308	genome.wustl.edu	37	13	41134759	41134759	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:41134759G>T	ENST00000379561.5	-	2	1253	c.869C>A	c.(868-870)tCa>tAa	p.S290*	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	290	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGAAAACTGTGATCCAGGGCT	0.502																																																0			13											82	72	76					13																	41134759		2203	4300	6503	40032759	SO:0001587	stop_gained	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.869C>A	13.37:g.41134759G>T	ENSP00000368880:p.Ser290*		40032759	O43523|Q5VYC7|Q6NSK6	Nonsense_Mutation	SNP	ENST00000379561.5	37	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	G	39	7.444948	0.98289	.	.	ENSG00000150907	ENST00000379561	.	.	.	5.61	5.61	0.85477	.	0.179465	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7632	18.6299	0.91357	0.0:0.0:1.0:0.0	.	.	.	.	X	290	.	ENSP00000368880:S290X	S	-	2	0	FOXO1	40032759	1.000000	0.71417	0.782000	0.31804	0.734000	0.41952	9.476000	0.97823	2.653000	0.90120	0.467000	0.42956	TCA		0.502	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		T	41134759	G	T	41134759	4	4	434	1	0	0	0	0	0	1	0	0	6023	1294	45	3	1102	3	FOXO1	13	41134759	Nonsense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	7853666	41134759	74035119	53	23945											
EPSTI1	94240	genome.wustl.edu	37	13	43566224	43566224	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:43566224G>A	ENST00000398762.3	-	1	77	c.78C>T	c.(76-78)gaC>gaT	p.D26D	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313640.7_Silent_p.D26D|EPSTI1_ENST00000313624.7_Silent_p.D26D			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	26										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GCCCAGAAGGGTCCTGGGGAT	0.701																																																0			13											20	26	24					13																	43566224		2191	4279	6470	42464224	SO:0001819	synonymous_variant	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.78C>T	13.37:g.43566224G>A			42464224	Q8IVC7|Q8NDQ7	Silent	SNP	ENST00000398762.3	37	CCDS9387.1																																																																																				0.701	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		A	43566224	G	A	43566224	2	1	434	1	0	0	0	0	0	0	0	1	5198	1252	44	2		2	EPSTI1	13	43566224	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	2431465	43566224	71603654	54	23946											
DIAPH3	81624	genome.wustl.edu	37	13	60545193	60545193	+	Silent	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:60545193A>C	ENST00000400324.4	-	16	1972	c.1752T>G	c.(1750-1752)ggT>ggG	p.G584G	DIAPH3_ENST00000400319.1_Silent_p.G514G|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Silent_p.G584G|DIAPH3_ENST00000400320.1_Silent_p.G538G|DIAPH3_ENST00000377908.2_Silent_p.G573G|DIAPH3_ENST00000400330.1_Silent_p.G584G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	584	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCACCCCTCCACCAGAAGGCA	0.597																																																0			13											23	29	27					13																	60545193		1917	4128	6045	59443194	SO:0001819	synonymous_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1752T>G	13.37:g.60545193A>C			59443194	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	CCDS41898.1																																																																																				0.597	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		C	60545193	A	C	60545193	2	2	434	1	0	0	0	0	0	0	0	1	4520	146	6	5		5	DIAPH3	13	60545193	Silent	SNP	A	TCGA-61-1904-01A-01W-0639-09	16978969	60545193	54624685	55	23947											
COL4A2	1284	genome.wustl.edu	37	13	110960451	110960451	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr13:110960451T>C	ENST00000360467.5	+	3	386	c.80T>C	c.(79-81)cTc>cCc	p.L27P	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	27					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGGGGTTCCTCGCCCAGAGC	0.642																																																0			13											68	78	74					13																	110960451		2058	4182	6240	109758452	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.80T>C	13.37:g.110960451T>C	ENSP00000353654:p.Leu27Pro		109758452	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361506	0.24684	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.92149	-2.98;-2.87	3.95	3.95	0.45737	.	0.000000	0.26742	U	0.022740	D	0.89529	0.6741	N	0.19112	0.55	0.30803	N	0.739685	D	0.64830	0.994	P	0.58520	0.84	D	0.86254	0.1651	10	0.34782	T	0.22	.	9.3926	0.38383	0.0:0.0:0.0:1.0	.	27	P08572	CO4A2_HUMAN	P	27	ENSP00000383027:L27P;ENSP00000353654:L27P	ENSP00000257309:L27P	L	+	2	0	COL4A2	109758452	0.767000	0.28508	0.676000	0.29932	0.238000	0.25445	3.040000	0.49799	1.771000	0.52183	0.454000	0.30748	CTC		0.642	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		C	110960451	T	C	110960451	3	2	434	1	0	0	0	0	1	0	0	0	3690	1551	54	4	86	4	COL4A2	13	110960451	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09	50415258	110960451	4209427	56	23948											
TEP1	7011	genome.wustl.edu	37	14	20847231	20847231	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:20847231T>C	ENST00000262715.5	-	36	5201	c.5161A>G	c.(5161-5163)Atc>Gtc	p.I1721V	TEP1_ENST00000545983.1_Missense_Mutation_p.I59V|TEP1_ENST00000556935.1_Missense_Mutation_p.I1613V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1721					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAAGCAGAGATTCCATCACAG	0.577																																																0			14											107	97	100					14																	20847231		2203	4300	6503	19917071	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5161A>G	14.37:g.20847231T>C	ENSP00000262715:p.Ile1721Val		19917071	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.474096	0.26423	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.48522	0.81;1.72;1.72	5.95	2.53	0.30540	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.236891	0.42172	N	0.000755	T	0.18002	0.0432	N	0.03324	-0.35	0.23984	N	0.99627	B;B;B;B	0.14012	0.003;0.009;0.003;0.005	B;B;B;B	0.16722	0.002;0.016;0.005;0.007	T	0.32851	-0.9891	10	0.02654	T	1	-12.3145	7.1784	0.25757	0.0:0.4368:0.0:0.5632	.	59;1613;1064;1721	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1721;1721;1613;59	ENSP00000262715:I1721V;ENSP00000452574:I1613V;ENSP00000438849:I59V	ENSP00000262715:I1721V	I	-	1	0	TEP1	19917071	0.596000	0.26866	0.554000	0.28268	0.927000	0.56198	0.752000	0.26362	0.232000	0.21100	0.460000	0.39030	ATC		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		C	20847231	T	C	20847231	3	2	434	1	0	0	0	0	1	0	0	0	15759	1493	52	4	2802	4	TEP1	14	20847231	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09		20847231	86502309	57	23949											
IPO4	79711	genome.wustl.edu	37	14	24652251	24652251	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:24652251G>A	ENST00000354464.6	-	23	2528	c.2352C>T	c.(2350-2352)acC>acT	p.T784T	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	784					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCAGTGTGAGGGTCCCACAGC	0.662																																																0			14											44	51	49					14																	24652251		2116	4234	6350	23722091	SO:0001819	synonymous_variant	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2352C>T	14.37:g.24652251G>A			23722091	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	CCDS9616.1																																																																																				0.662	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		A	24652251	G	A	24652251	2	1	434	1	0	0	0	0	0	0	0	1	7795	1219	43	2		2	IPO4	14	24652251	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	3805020	24652251	82697289	58	23950											
DACT1	51339	genome.wustl.edu	37	14	59113364	59113364	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:59113364G>A	ENST00000335867.4	+	4	2047	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	DACT1_ENST00000556859.1_Missense_Mutation_p.D394N|DACT1_ENST00000395153.3_Missense_Mutation_p.D638N|DACT1_ENST00000541264.2_Missense_Mutation_p.D394N			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	675					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAAGCGAACTGACTACCGGCG	0.716																																																0			14											12	12	12					14																	59113364		2166	4249	6415	58183117	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2023G>A	14.37:g.59113364G>A	ENSP00000337439:p.Asp675Asn		58183117	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726601	0.69074	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.61274	0.83;0.83;0.12;0.12;0.83	5.53	4.62	0.57501	.	0.055349	0.64402	D	0.000002	T	0.74520	0.3727	M	0.70595	2.14	0.35941	D	0.8332	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81324	-0.0984	10	0.48119	T	0.1	-22.8918	15.566	0.76294	0.0:0.0:0.8609:0.1391	.	638;675	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	N	394;394;638;675;394	ENSP00000451598:D394N;ENSP00000378581:D394N;ENSP00000378582:D638N;ENSP00000337439:D675N;ENSP00000442850:D394N	ENSP00000337439:D675N	D	+	1	0	DACT1	58183117	1.000000	0.71417	0.032000	0.17829	0.790000	0.44656	5.755000	0.68750	1.290000	0.44636	0.563000	0.77884	GAC		0.716	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		A	59113364	G	A	59113364	3	1	434	1	0	0	0	0	1	0	0	0	4222	1290	45	2	2037	2	DACT1	14	59113364	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	34461113	59113364	48236176	59	23951											
SLC39A9	55334	genome.wustl.edu	37	14	69866157	69866157	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:69866157T>A	ENST00000336643.5	+	1	749	c.71T>A	c.(70-72)aTt>aAt	p.I24N	ERH_ENST00000216520.6_5'Flank|SLC39A9_ENST00000031146.4_Missense_Mutation_p.I24N|SLC39A9_ENST00000556605.1_Missense_Mutation_p.I24N|ERH_ENST00000555373.1_5'Flank|ERH_ENST00000557016.1_5'Flank|SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000557046.1_Missense_Mutation_p.I24N	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	24					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GCCGGAATCATTCCCTTGGCT	0.453																																																0			14											216	194	202					14																	69866157		2203	4300	6503	68935910	SO:0001583	missense	55334				CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"Solute carriers"	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.71T>A	14.37:g.69866157T>A	ENSP00000336887:p.Ile24Asn		68935910	G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522018	0.85600	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.69806	1.2;-0.43;0.66	5.61	5.61	0.85477	.	0.136638	0.64402	D	0.000004	D	0.82453	0.5040	M	0.86097	2.795	0.80722	D	1	P;D;D	0.56968	0.898;0.978;0.957	D;P;P	0.64321	0.924;0.714;0.635	D	0.85639	0.1275	10	0.87932	D	0	-10.833	15.469	0.75426	0.0:0.0:0.0:1.0	.	24;24;24	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	N	24	ENSP00000452385:I24N;ENSP00000336887:I24N;ENSP00000451833:I24N	ENSP00000031146:I24N	I	+	2	0	SLC39A9	68935910	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.246000	0.78247	2.147000	0.66899	0.533000	0.62120	ATT		0.453	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		A	69866157	T	A	69866157	3	1	434	1	0	0	0	0	1	0	0	0	14628	1493	52	5	73	5	SLC39A9	14	69866157	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09	10752793	69866157	37483383	60	23952											
RPS6KL1	83694	genome.wustl.edu	37	14	75378025	75378025	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:75378025A>C	ENST00000555647.1	-	7	877	c.590T>G	c.(589-591)gTc>gGc	p.V197G	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.V197G|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.V197G|RPS6KL1_ENST00000554900.1_5'Flank|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.V166G			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CATGTAGGGGACTCCGTGTGG	0.632																																																0			14											125	111	116					14																	75378025		2203	4300	6503	74447778	SO:0001583	missense	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.590T>G	14.37:g.75378025A>C	ENSP00000452027:p.Val197Gly		74447778	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293441	0.60086	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000553789;ENST00000557413;ENST00000358328	T;T;T;T;T	0.30448	3.21;3.21;1.53;3.21;3.21	5.51	5.51	0.81932	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063522	0.64402	D	0.000007	T	0.58609	0.2134	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.79108	0.982;0.992;0.952	T	0.64706	-0.6344	10	0.87932	D	0	-16.6209	15.6239	0.76833	1.0:0.0:0.0:0.0	.	197;197;166	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	G	197;166;7;197;197	ENSP00000452027:V197G;ENSP00000346644:V166G;ENSP00000450846:V7G;ENSP00000450567:V197G;ENSP00000351086:V197G	ENSP00000346644:V166G	V	-	2	0	RPS6KL1	74447778	1.000000	0.71417	0.244000	0.24202	0.034000	0.12701	9.051000	0.93849	2.091000	0.63221	0.459000	0.35465	GTC		0.632	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			C	75378025	A	C	75378025	3	2	434	1	0	0	0	0	1	0	0	0	13662	275	10	5	1156	5	RPS6KL1	14	75378025	Missense_Mutation	SNP	A	TCGA-61-1904-01A-01W-0639-09	5511868	75378025	31971515	61	23953											
ANGEL1	23357	genome.wustl.edu	37	14	77273065	77273065	+	Silent	SNP	T	T	G	rs375759642		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:77273065T>G	ENST00000251089.2	-	5	1186	c.1074A>C	c.(1072-1074)ctA>ctC	p.L358L	ANGEL1_ENST00000554941.1_5'Flank|ANGEL1_ENST00000557179.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	358										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCCGATTAAGTAGCTCCAAGC	0.567																																																0			14											127	134	132					14																	77273065		2203	4300	6503	76342818	SO:0001819	synonymous_variant	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1074A>C	14.37:g.77273065T>G			76342818	B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	CCDS9852.1																																																																																				0.567	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		G	77273065	T	G	77273065	2	3	434	1	0	0	0	0	0	0	0	1	608	1625	57	5		5	ANGEL1	14	77273065	Silent	SNP	T	TCGA-61-1904-01A-01W-0639-09	1895040	77273065	30076475	62	23954											
SLC24A4	123041	genome.wustl.edu	37	14	92915421	92915421	+	Silent	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr14:92915421C>T	ENST00000532405.1	+	10	967	c.741C>T	c.(739-741)taC>taT	p.Y247Y	SLC24A4_ENST00000531433.1_Silent_p.Y247Y|SLC24A4_ENST00000393265.2_Silent_p.Y183Y|SLC24A4_ENST00000298877.1_Silent_p.Y230Y|SLC24A4_ENST00000351924.5_Silent_p.Y230Y			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	247					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTTCCAGGTACAATGTGAAGA	0.537																																					NSCLC(10;315 435 10383 28450 38798)											0			14											90	77	82					14																	92915421		2203	4300	6503	91985174	SO:0001819	synonymous_variant	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.741C>T	14.37:g.92915421C>T			91985174	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	8.813	0.935746	0.18206	.	.	ENSG00000140090	ENST00000525557	.	.	.	5.24	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5904	0.39543	0.0:0.8446:0.0:0.1554	.	.	.	.	X	132	.	.	Q	+	1	0	SLC24A4	91985174	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.388000	0.44398	2.436000	0.82500	0.561000	0.74099	CAA		0.537	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		T	92915421	C	T	92915421	2	4	434	1	0	0	0	0	0	0	0	1	14471	489	17	2		2	SLC24A4	14	92915421	Silent	SNP	C	TCGA-61-1904-01A-01W-0639-09	15642356	92915421	14434119	63	23955											
TGM7	116179	genome.wustl.edu	37	15	43571397	43571397	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr15:43571397C>G	ENST00000452443.2	-	11	1761	c.1757G>C	c.(1756-1758)gGc>gCc	p.G586A		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	586					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTCCGCGATGCCAGACACGCG	0.522																																																0			15											98	82	88					15																	43571397		2202	4299	6501	41358689	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1757G>C	15.37:g.43571397C>G	ENSP00000389466:p.Gly586Ala		41358689		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	4.652	0.121178	0.08881	.	.	ENSG00000159495	ENST00000452443	T	0.21031	2.03	5.42	4.48	0.54585	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.196363	0.43919	D	0.000515	T	0.08714	0.0216	N	0.16368	0.405	0.32324	N	0.562075	P	0.43750	0.816	B	0.32762	0.152	T	0.10894	-1.0610	10	0.02654	T	1	-26.545	11.3235	0.49436	0.1817:0.8183:0.0:0.0	.	586	Q96PF1	TGM7_HUMAN	A	586	ENSP00000389466:G586A	ENSP00000389466:G586A	G	-	2	0	TGM7	41358689	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.703000	0.37846	1.245000	0.43885	0.655000	0.94253	GGC		0.522	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		G	43571397	C	G	43571397	3	3	434	1	0	0	0	0	1	0	0	0	15835	739	26	3	387	3	TGM7	15	43571397	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09		43571397	58959995	64	23956											
UNC13C	440279	genome.wustl.edu	37	15	54306223	54306223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr15:54306223C>T	ENST00000260323.11	+	1	1123	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R375*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.R375*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	375					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R375*(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCAAAGCCTCGACCCATACT	0.378																																																2	Substitution - Nonsense(2)	urinary_tract(2)	15											76	73	74					15																	54306223		1849	4092	5941	52093515	SO:0001587	stop_gained	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1123C>T	15.37:g.54306223C>T	ENSP00000260323:p.Arg375*		52093515	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	37	6.620188	0.97709	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.38	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8083	0.34952	0.4567:0.4185:0.1249:0.0	.	.	.	.	X	375	.	ENSP00000260323:R375X	R	+	1	2	UNC13C	52093515	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.979000	0.40608	0.560000	0.29169	0.655000	0.94253	CGA		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		T	54306223	C	T	54306223	4	4	434	1	0	0	0	0	0	1	0	0	16986	876	31	1	1125	1	UNC13C	15	54306223	Nonsense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	10734826	54306223	48225169	65	23957											
NOX5	79400	genome.wustl.edu	37	15	69318908	69318908	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr15:69318908G>A	ENST00000388866.3	+	2	132	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	NOX5_ENST00000260364.5_Missense_Mutation_p.V13M|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.V31M|NOX5_ENST00000455873.3_Missense_Mutation_p.V24M|NOX5_ENST00000448182.3_Missense_Mutation_p.V13M	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTCCGGTGGGTGACTCAGCA	0.542																																																0			15											86	78	81					15																	69318908		2200	4298	6498	67105962	SO:0001583	missense	79400			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.91G>A	15.37:g.69318908G>A	ENSP00000373518:p.Val31Met		67105962	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687689	0.68157	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T;T	0.68624	-0.34;-0.34;1.52;-0.34	3.19	3.19	0.36642	EF-hand-like domain (1);	0.000000	0.64402	D	0.000002	T	0.73753	0.3627	L	0.46157	1.445	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.998;0.998	D;P;D	0.65443	0.935;0.896;0.935	T	0.76777	-0.2834	10	0.66056	D	0.02	-15.0425	13.263	0.60117	0.0:0.0:1.0:0.0	.	24;31;31	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	M	24;13;31;31	ENSP00000416828:V24M;ENSP00000410887:V13M;ENSP00000373518:V31M;ENSP00000432440:V31M	ENSP00000373518:V31M	V	+	1	0	NOX5	67105962	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	5.781000	0.68964	1.509000	0.48786	0.195000	0.17529	GTG		0.542	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		A	69318908	G	A	69318908	3	1	434	1	0	0	0	0	1	0	0	0	10559	1261	44	2	130	2	NOX5	15	69318908	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	15012685	69318908	33212484	66	23958											
AKAP13	11214	genome.wustl.edu	37	15	86123496	86123496	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr15:86123496C>G	ENST00000394518.2	+	7	2292	c.2197C>G	c.(2197-2199)Cct>Gct	p.P733A	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.P733A	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	733					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGATTTTTGTCCTTTCAAAGT	0.463																																					Melanoma(94;603 1453 3280 32295 32951)											0			15											65	65	65					15																	86123496		2202	4299	6501	83924500	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2197C>G	15.37:g.86123496C>G	ENSP00000378026:p.Pro733Ala		83924500	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642417	0.29246	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.10288	2.89;2.9	5.88	0.28	0.15682	.	.	.	.	.	T	0.08935	0.0221	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.29988	0.172;0.264	B;B	0.33454	0.079;0.164	T	0.35325	-0.9793	9	0.49607	T	0.09	.	8.8102	0.34963	0.0:0.5616:0.0:0.4384	.	733;733	Q12802;Q12802-2	AKP13_HUMAN;.	A	733;733;732;732	ENSP00000354718:P733A;ENSP00000378026:P733A	ENSP00000354718:P733A	P	+	1	0	AKAP13	83924500	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.149000	0.16243	0.130000	0.18549	-0.768000	0.03414	CCT		0.463	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		G	86123496	C	G	86123496	3	3	434	1	0	0	0	0	1	0	0	0	449	855	30	3	2219	3	AKAP13	15	86123496	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	16804588	86123496	16407896	67	23959											
MAPK8IP3	23162	genome.wustl.edu	37	16	1817725	1817725	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr16:1817725G>A	ENST00000250894.4	+	27	3552	c.3395G>A	c.(3394-3396)aGc>aAc	p.S1132N	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S1126N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1132					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCTACGTCAGCAAGATGCTA	0.627																																																0			16											29	33	31					16																	1817725		2102	4256	6358	1757726	SO:0001583	missense	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3395G>A	16.37:g.1817725G>A	ENSP00000250894:p.Ser1132Asn		1757726	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120783	0.56613	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.31769	1.48;1.48	3.52	2.52	0.30459	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.991	D;D;D	0.80764	0.96;0.994;0.985	T	0.52019	-0.8631	10	0.87932	D	0	-23.3186	11.5262	0.50582	0.0:0.0:0.8194:0.1806	.	1133;1126;1132	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	N	1132;1126	ENSP00000250894:S1132N;ENSP00000348290:S1126N	ENSP00000250894:S1132N	S	+	2	0	MAPK8IP3	1757726	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	9.035000	0.93752	0.651000	0.30788	0.561000	0.74099	AGC		0.627	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		A	1817725	G	A	1817725	3	1	434	1	0	0	0	0	1	0	0	0	9286	971	34	2	3517	2	MAPK8IP3	16	1817725	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09		1817725	88537028	68	23960											
USP7	7874	genome.wustl.edu	37	16	8988686	8988686	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr16:8988686C>A	ENST00000344836.4	-	29	3264	c.3066G>T	c.(3064-3066)aaG>aaT	p.K1022N	USP7_ENST00000381886.4_Missense_Mutation_p.K1006N|USP7_ENST00000535863.1_Missense_Mutation_p.K923N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1022					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCTGGATTCGCTTCATCACTT	0.597																																																0			16											102	97	99					16																	8988686		2197	4300	6497	8896187	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3066G>T	16.37:g.8988686C>A	ENSP00000343535:p.Lys1022Asn		8896187	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217046	0.58560	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.08102	3.13;3.14	5.48	3.5	0.40072	.	0.049867	0.85682	D	0.000000	T	0.08088	0.0202	L	0.37561	1.115	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.14309	-1.0477	10	0.46703	T	0.11	.	12.45	0.55671	0.0:0.8609:0.0:0.1391	.	1022;1006	Q93009;B7Z815	UBP7_HUMAN;.	N	1022;1030;923	ENSP00000343535:K1022N;ENSP00000443646:K923N	ENSP00000343535:K1022N	K	-	3	2	USP7	8896187	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.777000	0.38604	1.315000	0.45114	0.455000	0.32223	AAG		0.597	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			A	8988686	C	A	8988686	3	1	434	1	0	0	0	0	1	0	0	0	17088	796	28	3	254	3	USP7	16	8988686	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	7170961	8988686	81366067	69	23961											
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				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	58	61					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>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	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		T	7577120	C	T	7577120	3	4	434	1	0	0	0	0	1	0	0	0	16381	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09		7577120	73618090	70	23962											
DNAH9	1770	genome.wustl.edu	37	17	11797783	11797783	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:11797783C>A	ENST00000262442.4	+	59	11444	c.11376C>A	c.(11374-11376)ttC>ttA	p.F3792L	DNAH9_ENST00000608377.1_Missense_Mutation_p.F104L|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.F3792L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3792					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCGTGGAGTTCCTCTCCCATC	0.532																																																0			17											85	85	85					17																	11797783		2203	4300	6503	11738508	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11376C>A	17.37:g.11797783C>A	ENSP00000262442:p.Phe3792Leu		11738508	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633461	0.87660	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.08102	3.13;3.13;3.13	5.03	5.03	0.67393	Dynein heavy chain (1);	0.051723	0.85682	D	0.000000	T	0.29423	0.0733	M	0.87617	2.895	0.80722	D	1	P;P	0.49961	0.533;0.93	P;P	0.59643	0.464;0.861	T	0.04307	-1.0961	10	0.72032	D	0.01	.	12.7678	0.57401	0.0:0.9212:0.0:0.0788	.	145;3792	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	L	3792;3792;2374;104;145	ENSP00000262442:F3792L;ENSP00000414874:F3792L;ENSP00000379323:F104L	ENSP00000262442:F3792L	F	+	3	2	DNAH9	11738508	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.711000	0.37930	2.330000	0.79161	0.655000	0.94253	TTC		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11797783	C	A	11797783	3	1	434	1	0	0	0	0	1	0	0	0	4608	854	30	3	11610	3	DNAH9	17	11797783	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	4220663	11797783	69397427	71	23963											
CSH1	1442	genome.wustl.edu	37	17	61972855	61972855	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:61972855T>C	ENST00000316193.8	-	4	575	c.434A>G	c.(433-435)gAa>gGa	p.E145G	CSH1_ENST00000329882.8_Missense_Mutation_p.E145G|CSH1_ENST00000453363.3_Intron	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	145						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TTGGATGCCTTCCTCTAGGTC	0.592									Russell-Silver syndrome																																							0			17											55	57	57					17																	61972855		2193	4298	6491	59326587	SO:0001583	missense	1442	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"chorionic somatomammotropin A", "placental lactogen", "choriomammotropin"	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.434A>G	17.37:g.61972855T>C	ENSP00000316416:p.Glu145Gly		59326587	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	t	12.33	1.905123	0.33628	.	.	ENSG00000136488	ENST00000329882;ENST00000316193	T;T	0.53857	0.6;0.6	2.56	2.56	0.30785	.	0.313257	0.34386	N	0.004008	T	0.75459	0.3852	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.78542	-0.2164	10	0.87932	D	0	.	8.5892	0.33677	0.0:0.0:0.0:1.0	.	145;145;95	A6NFB4;Q6PF11;P78451	.;.;.	G	145	ENSP00000333268:E145G;ENSP00000316416:E145G	ENSP00000316416:E145G	E	-	2	0	CSH1	59326587	0.998000	0.40836	0.998000	0.56505	0.014000	0.08584	2.771000	0.47670	1.167000	0.42706	0.260000	0.18958	GAA		0.592	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317		C	61972855	T	C	61972855	3	2	434	1	0	0	0	0	1	0	0	0	3940	1783	62	4	476	4	CSH1	17	61972855	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09	50175072	61972855	19222355	72	23964											
GH1	2688	genome.wustl.edu	37	17	61994867	61994867	+	Splice_Site	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:61994867C>T	ENST00000323322.5	-	5	499		c.e5-1		GH1_ENST00000458650.2_Splice_Site|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Splice_Site|GH1_ENST00000351388.4_Splice_Site	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1						bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CTTCCAGCCTCTGCAAAGTGA	0.517																																																0			17											104	95	98					17																	61994867		2203	4298	6501	59348599	SO:0001630	splice_region_variant	2688			M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.457-1G>A	17.37:g.61994867C>T			59348599	A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Splice_Site	SNP	ENST00000323322.5	37	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161805	0.38217	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	.	.	.	2.62	2.62	0.31277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2254	0.54457	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GH1	59348599	1.000000	0.71417	0.980000	0.43619	0.714000	0.41099	4.945000	0.63568	1.470000	0.48102	0.298000	0.19748	.		0.517	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515	Intron	T	61994867	C	T	61994867	5	4	434	1	0	0	0	0	0	0	1	0	6367	927	32	2	201	2	GH1	17	61994867	Splice_Site	SNP	C	TCGA-61-1904-01A-01W-0639-09	22012	61994867	19200343	73	23965											
NARF	26502	genome.wustl.edu	37	17	80443501	80443501	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr17:80443501A>C	ENST00000309794.11	+	10	1298	c.1100A>C	c.(1099-1101)cAc>cCc	p.H367P	NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000345415.7_Missense_Mutation_p.H319P|NARF_ENST00000457415.3_Missense_Mutation_p.H413P|NARF_ENST00000390006.4_Missense_Mutation_p.H308P	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	367						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTCCCATTCCACTTTGTGGAG	0.572																																																0			17											118	103	108					17																	80443501		2203	4300	6503	78036790	SO:0001583	missense	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1100A>C	17.37:g.80443501A>C	ENSP00000309899:p.His367Pro		78036790	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.357216	0.24598	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.45276	0.9;0.9;0.9	5.32	5.32	0.75619	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.046604	0.85682	D	0.000000	T	0.62048	0.2396	M	0.92691	3.335	0.80722	D	1	B;P;B;B	0.37038	0.05;0.579;0.062;0.022	B;P;B;B	0.44359	0.099;0.447;0.159;0.093	T	0.71027	-0.4711	10	0.87932	D	0	-10.0663	14.4494	0.67374	1.0:0.0:0.0:0.0	.	413;319;414;367	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	P	308;414;367;319	ENSP00000374656:H308P;ENSP00000309899:H367P;ENSP00000283996:H319P	ENSP00000309899:H367P	H	+	2	0	NARF	78036790	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	8.764000	0.91719	2.006000	0.58801	0.459000	0.35465	CAC		0.572	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		C	80443501	A	C	80443501	3	2	434	1	0	0	0	0	1	0	0	0	10167	159	6	5	1280	5	NARF	17	80443501	Missense_Mutation	SNP	A	TCGA-61-1904-01A-01W-0639-09	18448634	80443501	751709	74	23966											
LAMA1	284217	genome.wustl.edu	37	18	7040226	7040226	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr18:7040226G>A	ENST00000389658.3	-	10	1364	c.1271C>T	c.(1270-1272)cCa>cTa	p.P424L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	424	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCACTGACCTGGCTGCTTCCC	0.478																																																0			18											128	116	120					18																	7040226		2203	4300	6503	7030226	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1271C>T	18.37:g.7040226G>A	ENSP00000374309:p.Pro424Leu		7030226		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851746	0.71719	.	.	ENSG00000101680	ENST00000389658	T	0.61274	0.12	5.32	5.32	0.75619	EGF-like, laminin (3);	0.117195	0.64402	D	0.000018	T	0.65133	0.2662	L	0.35542	1.07	0.80722	D	1	D	0.60160	0.987	P	0.60541	0.876	T	0.62562	-0.6828	10	0.39692	T	0.17	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	424	P25391	LAMA1_HUMAN	L	424	ENSP00000374309:P424L	ENSP00000374309:P424L	P	-	2	0	LAMA1	7030226	1.000000	0.71417	0.968000	0.41197	0.286000	0.27126	7.287000	0.78681	2.775000	0.95449	0.655000	0.94253	CCA		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7040226	G	A	7040226	3	1	434	1	0	0	0	0	1	0	0	0	8605	1348	47	2	8172	2	LAMA1	18	7040226	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09		7040226	71037022	75	23967											
FCGBP	8857	genome.wustl.edu	37	19	40433675	40433675	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:40433675G>A	ENST00000221347.6	-	2	601	c.594C>T	c.(592-594)taC>taT	p.Y198Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	198	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCCACATTGTAGGGCTGTA	0.572																																																0			19											73	72	72					19																	40433675		2203	4300	6503	45125515	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.594C>T	19.37:g.40433675G>A			45125515	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.572	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40433675	G	A	40433675	2	1	434	1	0	0	0	0	0	0	0	1	5778	1372	48	2		2	FCGBP	19	40433675	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09		40433675	18695308	76	23968											
SYMPK	8189	genome.wustl.edu	37	19	46351107	46351107	+	Silent	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:46351107G>A	ENST00000245934.7	-	7	823	c.579C>T	c.(577-579)acC>acT	p.T193T		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	193					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGGTGACAGGGTGACAATGA	0.582																																																0			19											113	93	99					19																	46351107		2203	4300	6503	51042947	SO:0001819	synonymous_variant	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.579C>T	19.37:g.46351107G>A			51042947	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																				0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		A	46351107	G	A	46351107	2	1	434	1	0	0	0	0	0	0	0	1	15439	1219	43	2		2	SYMPK	19	46351107	Silent	SNP	G	TCGA-61-1904-01A-01W-0639-09	5917432	46351107	12777876	77	23969											
FAM83E	54854	genome.wustl.edu	37	19	49116461	49116461	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:49116461G>A	ENST00000263266.3	-	1	358	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	57										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTGAGGAAGGGCCACAGCTCC	0.657																																																0			19											28	34	32					19																	49116461		2146	4264	6410	53808273	SO:0001583	missense	54854			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.169C>T	19.37:g.49116461G>A	ENSP00000263266:p.Pro57Ser		53808273	Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255339	0.22965	.	.	ENSG00000105523	ENST00000263266	T	0.10960	2.82	5.06	3.99	0.46301	.	0.299613	0.33253	N	0.005117	T	0.11067	0.0270	L	0.46157	1.445	0.29958	N	0.819653	P	0.39809	0.689	B	0.38921	0.285	T	0.05289	-1.0894	10	0.25106	T	0.35	-25.7754	12.7996	0.57578	0.0:0.0:0.835:0.165	.	57	Q2M2I3	FA83E_HUMAN	S	57	ENSP00000263266:P57S	ENSP00000263266:P57S	P	-	1	0	FAM83E	53808273	0.894000	0.30519	0.979000	0.43373	0.096000	0.18686	1.716000	0.37981	1.240000	0.43803	0.655000	0.94253	CCC		0.657	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		A	49116461	G	A	49116461	3	1	434	1	0	0	0	0	1	0	0	0	5637	1203	42	2	1287	2	FAM83E	19	49116461	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	2765354	49116461	10012522	78	23970											
IZUMO1	284359	genome.wustl.edu	37	19	49245105	49245105	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:49245105C>T	ENST00000332955.2	-	8	1242	c.695G>A	c.(694-696)cGc>cAc	p.R232H	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	232	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CAGCTCGCAGCGGTAGCTGCC	0.577																																																0			19											51	51	51					19																	49245105		2203	4300	6503	53936917	SO:0001583	missense	284359			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.695G>A	19.37:g.49245105C>T	ENSP00000327786:p.Arg232His		53936917	Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899417	0.72754	.	.	ENSG00000182264	ENST00000332955	D	0.84070	-1.8	5.26	4.2	0.49525	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.231220	0.30185	N	0.010217	D	0.85754	0.5770	L	0.36672	1.1	0.39709	D	0.971304	D	0.89917	1.0	D	0.75484	0.986	D	0.87155	0.2211	10	0.87932	D	0	-24.3436	11.4102	0.49921	0.1806:0.8194:0.0:0.0	.	232	Q8IYV9	IZUM1_HUMAN	H	232	ENSP00000327786:R232H	ENSP00000327786:R232H	R	-	2	0	IZUMO1	53936917	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	2.121000	0.41977	1.320000	0.45209	0.561000	0.74099	CGC		0.577	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		T	49245105	C	T	49245105	3	4	434	1	0	0	0	0	1	0	0	0	7933	768	27	1	369	1	IZUMO1	19	49245105	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	128644	49245105	9883878	79	23971											
HAS1	3036	genome.wustl.edu	37	19	52216726	52216726	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr19:52216726C>T	ENST00000222115.1	-	5	1725	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	HAS1_ENST00000540069.2_Missense_Mutation_p.R563Q|HAS1_ENST00000601714.1_Missense_Mutation_p.R571Q	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	564					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCAAAGCCTCCGCACGCCCAC	0.721																																					NSCLC(132;636 2450 45807 47979)											0			19											11	13	12					19																	52216726		2162	4255	6417	56908538	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1691G>A	19.37:g.52216726C>T	ENSP00000222115:p.Arg564Gln		56908538	Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.320954	0.41096	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.30981	1.52;1.51	2.71	2.71	0.32032	.	0.000000	0.64402	U	0.000006	T	0.16428	0.0395	L	0.49126	1.545	0.39254	D	0.964094	P;P;P	0.38300	0.626;0.493;0.493	B;B;B	0.21360	0.034;0.015;0.015	T	0.06427	-1.0827	10	0.13108	T	0.6	-16.625	5.6303	0.17506	0.0:0.848:0.0:0.152	.	563;564;563	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	Q	563;564	ENSP00000445021:R563Q;ENSP00000222115:R564Q	ENSP00000222115:R564Q	R	-	2	0	HAS1	56908538	0.997000	0.39634	0.998000	0.56505	0.624000	0.37722	3.557000	0.53741	1.820000	0.53075	0.174000	0.16983	CGG		0.721	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		T	52216726	C	T	52216726	3	4	434	1	0	0	0	0	1	0	0	0	6961	652	23	1	49	1	HAS1	19	52216726	Missense_Mutation	SNP	C	TCGA-61-1904-01A-01W-0639-09	2971621	52216726	6912257	80	23972											
AVP	551	genome.wustl.edu	37	20	3065243	3065243	+	Silent	SNP	C	C	T	rs537943771		TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr20:3065243C>T	ENST00000380293.3	-	1	127	c.78G>A	c.(76-78)ccG>ccA	p.P26P		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	26			P -> L (in NDI; weakly active). {ECO:0000269|PubMed:10369876}.		cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		TGCCGCCCCTCGGGCAGTTCT	0.652																																																0			20											118	110	113					20																	3065243		2203	4300	6503	3013243	SO:0001819	synonymous_variant	551			M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"Endogenous ligands"	894	protein-coding gene	gene with protein product	"antidiuretic hormone", "neurophysin II", "diabetes insipidus", "neurohypophyseal", "prepro-AVP-NP II", "prepro-arginine-vasopressin-neurophysin II"	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.78G>A	20.37:g.3065243C>T			3013243	A0AV35|O14935	Silent	SNP	ENST00000380293.3	37	CCDS13045.1																																																																																				0.652	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	NM_000490		T	3065243	C	T	3065243	2	4	434	1	0	0	0	0	0	0	0	1	1229	871	31	1		1	AVP	20	3065243	Silent	SNP	C	TCGA-61-1904-01A-01W-0639-09		3065243	59960277	81	23973											
RBPJL	11317	genome.wustl.edu	37	20	43942147	43942147	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr20:43942147G>T	ENST00000343694.3	+	7	731	c.659G>T	c.(658-660)cGc>cTc	p.R220L	RBPJL_ENST00000372743.1_Missense_Mutation_p.R220L|RBPJL_ENST00000372741.3_Missense_Mutation_p.R220L	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	220					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTCTTCAACCGCCTGCGCTCT	0.612																																																0			20											106	83	91					20																	43942147		2203	4300	6503	43375561	SO:0001583	missense	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.659G>T	20.37:g.43942147G>T	ENSP00000341243:p.Arg220Leu		43375561	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240100	0.95240	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.64438	-0.1;-0.1;-0.1	5.06	5.06	0.68205	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.83295	-0.0031	10	0.87932	D	0	-34.5264	17.6043	0.88034	0.0:0.0:1.0:0.0	.	220;220	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	L	220	ENSP00000361828:R220L;ENSP00000361826:R220L;ENSP00000341243:R220L	ENSP00000341243:R220L	R	+	2	0	RBPJL	43375561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.202000	0.95026	2.618000	0.88619	0.557000	0.71058	CGC		0.612	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		T	43942147	G	T	43942147	3	4	434	1	0	0	0	0	1	0	0	0	13165	1087	38	3	685	3	RBPJL	20	43942147	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	40876904	43942147	19083373	82	23974											
LZTR1	8216	genome.wustl.edu	37	22	21343123	21343123	+	Silent	SNP	C	C	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr22:21343123C>T	ENST00000215739.8	+	6	914	c.555C>T	c.(553-555)gaC>gaT	p.D185D	LZTR1_ENST00000389355.3_Silent_p.D166D|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	185					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTACAGTGACAAGCTGTGGA	0.652																																																0			22											174	133	147					22																	21343123		2203	4300	6503	19673123	SO:0001819	synonymous_variant	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.555C>T	22.37:g.21343123C>T			19673123	Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	CCDS33606.1																																																																																				0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		T	21343123	C	T	21343123	2	4	434	1	0	0	0	0	0	0	0	1	9137	477	17	2		2	LZTR1	22	21343123	Silent	SNP	C	TCGA-61-1904-01A-01W-0639-09		21343123	29961443	83	23975											
CDC42EP1	11135	genome.wustl.edu	37	22	37964354	37964354	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr22:37964354A>G	ENST00000249014.4	+	3	1123	c.703A>G	c.(703-705)Act>Gct	p.T235A		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	235	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCAGCCCCTACTGCAAACCC	0.677																																																0			22																																								36294300	SO:0001583	missense	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.703A>G	22.37:g.37964354A>G	ENSP00000249014:p.Thr235Ala		36294300	A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	A	0.062	-1.221858	0.01530	.	.	ENSG00000128283	ENST00000249014	T	0.27890	1.64	2.24	-4.47	0.03525	.	.	.	.	.	T	0.12092	0.0294	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37619	-0.9698	9	0.02654	T	1	.	2.9823	0.05957	0.2598:0.0:0.3869:0.3533	.	235	Q00587	BORG5_HUMAN	A	235	ENSP00000249014:T235A	ENSP00000249014:T235A	T	+	1	0	CDC42EP1	36294300	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.988000	0.03739	-0.496000	0.06650	-1.073000	0.02249	ACT		0.677	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		G	37964354	A	G	37964354	3	3	434	1	0	0	0	0	1	0	0	0	3075	391	14	4	709	4	CDC42EP1	22	37964354	Missense_Mutation	SNP	A	TCGA-61-1904-01A-01W-0639-09	16621231	37964354	13340212	84	23976											
TRIOBP	11078	genome.wustl.edu	37	22	38097449	38097449	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr22:38097449G>C	ENST00000406386.3	+	3	332	c.77G>C	c.(76-78)tGc>tCc	p.C26S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	26					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGTCAAAACTGCTTCCACCCT	0.582																																																0			22											87	89	88					22																	38097449		2006	4170	6176	36427395	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.77G>C	22.37:g.38097449G>C	ENSP00000384312:p.Cys26Ser		36427395	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597895	0.46318	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.60920	0.15	5.62	4.6	0.57074	.	.	.	.	.	T	0.41305	0.1153	N	0.14661	0.345	0.46798	D	0.999205	P	0.43094	0.799	B	0.40228	0.323	T	0.47195	-0.9136	9	0.87932	D	0	.	11.7198	0.51675	0.0826:0.0:0.9174:0.0	.	26	Q9H2D6	TARA_HUMAN	S	26	ENSP00000384312:C26S	ENSP00000340312:C26S	C	+	2	0	TRIOBP	36427395	0.413000	0.25400	0.067000	0.19924	0.732000	0.41865	1.672000	0.37523	1.375000	0.46248	0.591000	0.81541	TGC		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			C	38097449	G	C	38097449	3	2	434	1	0	0	0	0	1	0	0	0	16553	1319	46	3	79	3	TRIOBP	22	38097449	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	133095	38097449	13207117	85	23977											
ENTHD1	150350	genome.wustl.edu	37	22	40283478	40283478	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chr22:40283478T>C	ENST00000325157.6	-	2	525	c.275A>G	c.(274-276)cAt>cGt	p.H92R		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	92	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CTCTCTGCAATGCTGAATAAC	0.388																																																0			22											148	151	150					22																	40283478		2203	4300	6503	38613424	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.275A>G	22.37:g.40283478T>C	ENSP00000317431:p.His92Arg		38613424	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297365	0.40694	.	.	ENSG00000176177	ENST00000325157	T	0.40476	1.03	5.42	3.14	0.36123	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.429754	0.23893	N	0.043528	T	0.28599	0.0708	N	0.19112	0.55	0.26998	N	0.964987	B	0.26318	0.146	B	0.30401	0.115	T	0.20505	-1.0273	10	0.39692	T	0.17	-5.6719	10.6442	0.45610	0.3404:0.0:0.0:0.6596	.	92	Q8IYW4	ENTD1_HUMAN	R	92	ENSP00000317431:H92R	ENSP00000317431:H92R	H	-	2	0	ENTHD1	38613424	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.190000	0.42630	0.965000	0.38133	0.533000	0.62120	CAT		0.388	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		C	40283478	T	C	40283478	3	2	434	1	0	0	0	0	1	0	0	0	5137	1464	51	4	1572	4	ENTHD1	22	40283478	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09	2186029	40283478	11021088	86	23978											
ARSF	416	genome.wustl.edu	37	X	3007646	3007646	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chrX:3007646A>C	ENST00000381127.1	+	7	1161	c.940A>C	c.(940-942)Aat>Cat	p.N314H	ARSF_ENST00000537104.1_Missense_Mutation_p.N314H|ARSF_ENST00000359361.2_Missense_Mutation_p.N314H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	314					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTATGGGGATAATGTGGAAGA	0.488																																																0			X											141	112	122					X																	3007646		2203	4300	6503	3017646	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.940A>C	X.37:g.3007646A>C	ENSP00000370519:p.Asn314His		3017646	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	A	9.119	1.008610	0.19199	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98531	-4.98;-4.98;-4.98	3.0	0.129	0.14739	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.109910	0.64402	N	0.000014	D	0.97464	0.9170	M	0.88640	2.97	0.23943	N	0.996394	B	0.22480	0.07	B	0.39590	0.304	D	0.90678	0.4603	10	0.16420	T	0.52	.	5.4054	0.16318	0.6483:0.1775:0.0:0.1742	.	314	P54793	ARSF_HUMAN	H	314	ENSP00000370519:N314H;ENSP00000445594:N314H;ENSP00000352319:N314H	ENSP00000352319:N314H	N	+	1	0	ARSF	3017646	0.025000	0.19082	0.001000	0.08648	0.054000	0.15201	1.548000	0.36201	0.186000	0.20125	0.438000	0.28831	AAT		0.488	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			C	3007646	A	C	3007646	3	2	434	1	0	0	0	0	1	0	0	0	991	362	13	5	962	5	ARSF	23	3007646	Missense_Mutation	SNP	A	TCGA-61-1904-01A-01W-0639-09		3007646	152262914	87	23979											
BCOR	54880	genome.wustl.edu	37	X	39933560	39933560	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chrX:39933560T>C	ENST00000378444.4	-	4	1267	c.1039A>G	c.(1039-1041)Acc>Gcc	p.T347A	BCOR_ENST00000342274.4_Missense_Mutation_p.T347A|BCOR_ENST00000397354.3_Missense_Mutation_p.T347A|BCOR_ENST00000378455.4_Missense_Mutation_p.T347A	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	347					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCAGGCTGGGTGGGAAGGTGG	0.622			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0			X											43	33	36					X																	39933560		2202	4300	6502	39818504	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1039A>G	X.37:g.39933560T>C	ENSP00000367705:p.Thr347Ala		39818504	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	T	4.437	0.080861	0.08533	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.56	-2.95	0.05564	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.35201	-0.9798	9	0.24483	T	0.36	-5.445	2.0389	0.03545	0.2416:0.3557:0.2562:0.1465	.	347;347;347;347	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	A	347	ENSP00000367716:T347A;ENSP00000380512:T347A;ENSP00000367705:T347A;ENSP00000345923:T347A;ENSP00000384485:T347A	ENSP00000345923:T347A	T	-	1	0	BCOR	39818504	0.005000	0.15991	0.001000	0.08648	0.904000	0.53231	0.055000	0.14229	-0.281000	0.09141	0.486000	0.48141	ACC		0.622	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		C	39933560	T	C	39933560	3	2	434	1	0	0	0	0	1	0	0	0	1386	1696	59	4	4276	4	BCOR	23	39933560	Missense_Mutation	SNP	T	TCGA-61-1904-01A-01W-0639-09	36925914	39933560	115337000	88	23980											
DIAPH2	1730	genome.wustl.edu	37	X	96013249	96013249	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chrX:96013249G>T	ENST00000324765.8	+	4	786	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	DIAPH2_ENST00000373054.4_Missense_Mutation_p.A136S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A147S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A147S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A147S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	147	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTCTGCCACTGCCAAATCTGT	0.388																																																0			X											93	77	83					X																	96013249		2203	4300	6503	95899905	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.439G>T	X.37:g.96013249G>T	ENSP00000321348:p.Ala147Ser		95899905	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	6.364	0.435252	0.12045	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.73	1.78	0.24846	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.567841	0.17771	N	0.162583	T	0.67449	0.2894	N	0.02011	-0.69	0.34125	D	0.664608	B;B;P	0.39094	0.169;0.047;0.659	B;B;B	0.38921	0.177;0.029;0.285	T	0.70073	-0.4972	10	0.02654	T	1	.	8.8048	0.34932	0.0696:0.0:0.5511:0.3794	.	147;147;147	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	S	147;136;147;147;147;147	ENSP00000362152:A147S;ENSP00000362145:A136S;ENSP00000348082:A147S;ENSP00000362140:A147S;ENSP00000321348:A147S	ENSP00000321348:A147S	A	+	1	0	DIAPH2	95899905	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	2.475000	0.45162	-0.081000	0.12662	0.600000	0.82982	GCC		0.388	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		T	96013249	G	T	96013249	3	4	434	1	0	0	0	0	1	0	0	0	4519	1319	46	3	453	3	DIAPH2	23	96013249	Missense_Mutation	SNP	G	TCGA-61-1904-01A-01W-0639-09	56079689	96013249	59257311	89	23981											
L1CAM	3897	genome.wustl.edu	37	X	153130954	153130954	+	Splice_Site	SNP	A	A	C			TCGA-61-1904-01A-01W-0639-09	TCGA-61-1904-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	20010c6e-bfe6-4508-9d0c-9288b7a59040	276aadad-c777-425a-b847-f7e8749e7f99	g.chrX:153130954A>C	ENST00000370060.1	-	21	2738	c.2549T>G	c.(2548-2550)gTg>gGg	p.V850G	L1CAM_ENST00000538883.1_Splice_Site_p.V852G|L1CAM_ENST00000361981.3_Splice_Site_p.V845G|L1CAM_ENST00000361699.4_Splice_Site_p.V850G|L1CAM_ENST00000370055.1_Splice_Site_p.V845G|L1CAM_ENST00000543994.1_Splice_Site_p.V852G|L1CAM_ENST00000370057.3_Splice_Site_p.V850G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	850	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)			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)					CCAGTACGTCACCTGCACAAG	0.612																																																0			X											156	114	129					X																	153130954		2203	4300	6503	152784148	SO:0001630	splice_region_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.2548-1T>G	X.37:g.153130954A>C			152784148	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559135	0.65538	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119574	0.34986	N	0.003522	D	0.84392	0.5462	M	0.93150	3.385	0.80722	D	1	D;D;D	0.62365	0.983;0.991;0.986	D;D;D	0.68353	0.928;0.947;0.957	D	0.87550	0.2464	10	0.87932	D	0	.	10.6519	0.45653	1.0:0.0:0.0:0.0	.	845;850;850	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	G	850;852;850;852;845;845;850	ENSP00000359077:V850G;ENSP00000438430:V852G;ENSP00000359074:V850G;ENSP00000439645:V852G;ENSP00000354712:V845G;ENSP00000359072:V845G;ENSP00000355380:V850G	ENSP00000355380:V850G	V	-	2	0	L1CAM	152784148	1.000000	0.71417	0.857000	0.33713	0.612000	0.37316	7.741000	0.84997	1.784000	0.52394	0.430000	0.28490	GTG		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	Missense_Mutation	C	153130954	A	C	153130954	5	2	434	1	0	0	0	0	0	0	1	0	8588	173	6	5	1260	5	L1CAM	23	153130954	Splice_Site	SNP	A	TCGA-61-1904-01A-01W-0639-09	57117705	153130954	2139606	90	23982											
HSPG2	3339	genome.wustl.edu	37	1	22157545	22157545	+	Silent	SNP	G	G	A	rs112494360	byFrequency	TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:22157545G>A	ENST00000374695.3	-	85	11680	c.11601C>T	c.(11599-11601)taC>taT	p.Y3867Y	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3867	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGACGCACACGTAGCTGCTGC	0.632													g|||	145	0.0289537	0.0015	0.0231	5008	,	,		14817	0		0.0398	False		,,,				2504	0.089															0			1								34,4364		0,34,2165	24	26	25		11601	2.3	0.8	1	dbSNP_132	25	409,8179		10,389,3895	no	coding-synonymous	HSPG2	NM_005529.5		10,423,6060	AA,AG,GG		4.7625,0.7731,3.4114		3867/4392	22157545	443,12543	2199	4294	6493	22030132	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11601C>T	1.37:g.22157545G>A			22030132	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																				0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22157545	G	A	22157545	2	1	435	1	0	0	0	0	0	0	0	1	7430	1140	40	1		1	HSPG2	1	22157545	Silent	SNP	G	TCGA-61-1906-01A-01W-0639-09		22157545	227093076	1	23983											
ZFYVE9	9372	genome.wustl.edu	37	1	52747334	52747334	+	Splice_Site	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:52747334T>A	ENST00000371591.1	+	9	3002	c.2871T>A	c.(2869-2871)taT>taA	p.Y957*	ZFYVE9_ENST00000287727.3_Splice_Site_p.Y957*|ZFYVE9_ENST00000357206.2_Splice_Site_p.Y898*	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	957					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CATCTGTAGATGTGAACAGGA	0.368																																																0			1											130	113	118					1																	52747334		2203	4300	6503	52519922	SO:0001630	splice_region_variant	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2870-1T>A	1.37:g.52747334T>A			52519922	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Nonsense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	41	8.583145	0.98872	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	.	.	.	4.93	4.93	0.64822	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7338	0.69402	0.0:0.0:0.0:1.0	.	.	.	.	X	898;957;957	.	ENSP00000287727:Y957X	Y	+	3	2	ZFYVE9	52519922	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.006000	0.49529	2.062000	0.61559	0.482000	0.46254	TAT		0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	Nonsense_Mutation	A	52747334	T	A	52747334	5	1	435	1	0	0	0	0	0	0	1	0	17671	1478	51	5	2912	5	ZFYVE9	1	52747334	Splice_Site	SNP	T	TCGA-61-1906-01A-01W-0639-09	30589789	52747334	196503287	2	23984											
ATP1A4	480	genome.wustl.edu	37	1	160143370	160143370	+	Splice_Site	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:160143370G>A	ENST00000368081.4	+	13	2325		c.e13-1		ATP1A4_ENST00000418334.1_Splice_Site	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide						ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCAACCCAGGTGATCATGG	0.507																																																0			1											149	130	137					1																	160143370		2203	4300	6503	158409994	SO:0001630	splice_region_variant	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1855-1G>A	1.37:g.160143370G>A			158409994	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Splice_Site	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912536	0.72983	.	.	ENSG00000132681	ENST00000368081	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5236	0.67870	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP1A4	158409994	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.623000	0.98386	2.355000	0.79922	0.655000	0.94253	.		0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	Intron	A	160143370	G	A	160143370	5	1	435	1	0	0	0	0	0	0	1	0	1131	1014	35	2	1904	2	ATP1A4	1	160143370	Splice_Site	SNP	G	TCGA-61-1906-01A-01W-0639-09	107396036	160143370	89107251	3	23985											
ESRRG	2104	genome.wustl.edu	37	1	216850555	216850555	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:216850555G>A	ENST00000408911.3	-	2	488	c.335C>T	c.(334-336)cCc>cTc	p.P112L	ESRRG_ENST00000359162.2_Missense_Mutation_p.P89L|ESRRG_ENST00000366940.2_Missense_Mutation_p.P89L|ESRRG_ENST00000487276.1_Missense_Mutation_p.P89L|ESRRG_ENST00000366938.2_Missense_Mutation_p.P89L|ESRRG_ENST00000493748.1_Missense_Mutation_p.P89L|ESRRG_ENST00000463665.1_Missense_Mutation_p.P89L|ESRRG_ENST00000361525.3_Missense_Mutation_p.P89L|ESRRG_ENST00000391890.3_Missense_Mutation_p.P89L|ESRRG_ENST00000493603.1_Missense_Mutation_p.P89L|ESRRG_ENST00000360012.3_Missense_Mutation_p.P89L|ESRRG_ENST00000366937.1_Missense_Mutation_p.P117L|ESRRG_ENST00000361395.2_Missense_Mutation_p.P89L	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	112					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTGGTCTGGGGATCTTCAAC	0.512																																																0			1											230	206	214					1																	216850555		2203	4300	6503	214917178	SO:0001583	missense	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.335C>T	1.37:g.216850555G>A	ENSP00000386171:p.Pro112Leu		214917178	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819709	0.71028	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.95069	-3.21;-3.21;-3.21;-3.24;-3.21;-3.21;-3.21;-3.21;-3.21;-3.24;-3.6;-3.21;-3.21;-3.02;0.92	6.16	6.16	0.99307	.	0.161589	0.64402	D	0.000019	D	0.90896	0.7139	N	0.14661	0.345	0.58432	D	0.999999	B;B;B	0.23185	0.002;0.081;0.048	B;B;B	0.30316	0.007;0.114;0.036	D	0.85609	0.1257	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	89;117;112	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	L	89;89;117;112;89;89;89;89;89;89;89;89;89;89;89;89	ENSP00000355225:P89L;ENSP00000355907:P89L;ENSP00000355904:P117L;ENSP00000386171:P112L;ENSP00000352077:P89L;ENSP00000354584:P89L;ENSP00000355905:P89L;ENSP00000353108:P89L;ENSP00000419594:P89L;ENSP00000375761:P89L;ENSP00000418629:P89L;ENSP00000419155:P89L;ENSP00000417374:P89L;ENSP00000419514:P89L;ENSP00000417900:P89L	ENSP00000346386:P89L	P	-	2	0	ESRRG	214917178	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.750000	0.98875	2.937000	0.99478	0.650000	0.86243	CCC		0.512	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		A	216850555	G	A	216850555	3	1	435	1	0	0	0	0	1	0	0	0	5262	1232	43	2	1065	2	ESRRG	1	216850555	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	56707185	216850555	32400066	4	23986											
LIN9	286826	genome.wustl.edu	37	1	226474093	226474093	+	Silent	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:226474093T>A	ENST00000328205.5	-	6	1058	c.513A>T	c.(511-513)acA>acT	p.T171T	LIN9_ENST00000366801.1_Silent_p.T120T|LIN9_ENST00000481685.1_Silent_p.T136T	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	155	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTAACTTTCTTGTTTTCAAAT	0.303																																					Ovarian(197;1696 2974 11248 14117)											0			1											63	71	68					1																	226474093		2201	4299	6500	224540716	SO:0001819	synonymous_variant	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.513A>T	1.37:g.226474093T>A			224540716	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Silent	SNP	ENST00000328205.5	37	CCDS1553.1																																																																																				0.303	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		A	226474093	T	A	226474093	2	1	435	1	0	0	0	0	0	0	0	1	8813	1799	63	5		5	LIN9	1	226474093	Silent	SNP	T	TCGA-61-1906-01A-01W-0639-09	9623538	226474093	22776528	5	23987											
XDH	7498	genome.wustl.edu	37	2	31588862	31588862	+	Silent	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:31588862T>A	ENST00000379416.3	-	22	2484	c.2436A>T	c.(2434-2436)gcA>gcT	p.A812A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	812					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCAGGGCCACTGCCGTGGACA	0.537																																					Colon(66;682 1445 30109 40147)											0			2											85	83	84					2																	31588862		2203	4300	6503	31442366	SO:0001819	synonymous_variant	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2436A>T	2.37:g.31588862T>A			31442366	Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																				0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31588862	T	A	31588862	2	1	435	1	0	0	0	0	0	0	0	1	17426	1567	55	5		5	XDH	2	31588862	Silent	SNP	T	TCGA-61-1906-01A-01W-0639-09		31588862	211610511	6	23988											
SLC8A1	6546	genome.wustl.edu	37	2	40656955	40656955	+	Missense_Mutation	SNP	C	C	T	rs34034084		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:40656955C>T	ENST00000403092.1	-	2	499	c.466G>A	c.(466-468)Gtg>Atg	p.V156M	SLC8A1_ENST00000332839.4_Missense_Mutation_p.V156M|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V156M|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V156M|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V156M|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V156M|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V156M|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V156M|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V156M|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V156M			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	156					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGCCACACACTTCAATTACT	0.458																																																0			2											130	116	120					2																	40656955		2203	4300	6503	40510459	SO:0001583	missense	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.466G>A	2.37:g.40656955C>T	ENSP00000384763:p.Val156Met		40510459	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673817	0.47781	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.59	4.71	0.59529	Sodium/calcium exchanger membrane region (1);	0.118949	0.56097	D	0.000031	D	0.83723	0.5316	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D	0.76494	0.98;0.997;0.991;0.999;0.984	D;D;D;D;D	0.87578	0.97;0.998;0.978;0.977;0.987	D	0.86811	0.1998	10	0.87932	D	0	.	13.5828	0.61913	0.1566:0.8434:0.0:0.0	.	156;156;156;156;156	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	M	156	ENSP00000383886:V156M;ENSP00000440727:V156M;ENSP00000384763:V156M;ENSP00000385678:V156M;ENSP00000385188:V156M;ENSP00000385535:V156M;ENSP00000332931:V156M;ENSP00000384908:V156M;ENSP00000385811:V156M;ENSP00000443515:V156M	ENSP00000332931:V156M	V	-	1	0	SLC8A1	40510459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.713000	0.54882	1.351000	0.45789	0.563000	0.77884	GTG		0.458	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		T	40656955	C	T	40656955	3	4	435	1	0	0	0	0	1	0	0	0	14709	565	20	2	2603	2	SLC8A1	2	40656955	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09	9068093	40656955	202542418	7	23989											
EFEMP1	2202	genome.wustl.edu	37	2	56145019	56145019	+	Missense_Mutation	SNP	C	C	A	rs150201810		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:56145019C>A	ENST00000394555.2	-	4	733	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	EFEMP1_ENST00000394554.1_Missense_Mutation_p.G100W|EFEMP1_ENST00000424836.2_Missense_Mutation_p.G42W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.G100W	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	100					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTACAACCCCGGTGGTTGCC	0.562																																					GBM(92;934 1319 7714 28760 40110)											0			2											83	84	83					2																	56145019		2203	4300	6503	55998523	SO:0001583	missense	2202			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.298G>T	2.37:g.56145019C>A	ENSP00000378058:p.Gly100Trp		55998523	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088393	0.55968	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672;ENST00000439193;ENST00000440439	D;D;T;D;T;T;T	0.84516	-1.86;-1.86;-1.37;-1.86;-1.28;-1.25;-1.17	4.48	4.48	0.54585	.	0.000000	0.45867	D	0.000325	D	0.83492	0.5266	N	0.08118	0	0.24575	N	0.99391	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76443	-0.2957	10	0.72032	D	0.01	.	12.9721	0.58517	0.0:1.0:0.0:0.0	.	42;100	B4DW75;Q12805	.;FBLN3_HUMAN	W	100;100;42;100;100;100;100	ENSP00000378058:G100W;ENSP00000378057:G100W;ENSP00000399145:G42W;ENSP00000347596:G100W;ENSP00000392055:G100W;ENSP00000408195:G100W;ENSP00000398345:G100W	ENSP00000347596:G100W	G	-	1	0	EFEMP1	55998523	0.248000	0.23930	0.428000	0.26697	0.741000	0.42261	0.441000	0.21611	2.785000	0.95823	0.650000	0.86243	GGG		0.562	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			A	56145019	C	A	56145019	3	1	435	1	0	0	0	0	1	0	0	0	4941	652	23	3	1215	3	EFEMP1	2	56145019	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09	15488064	56145019	187054354	8	23990											
KIAA1310	55683	genome.wustl.edu	37	2	97271056	97271056	+	Splice_Site	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:97271056C>A	ENST00000431828.1	-	15	2010		c.e15+1		KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Splice_Site|KANSL3_ENST00000599854.1_Splice_Site|KANSL3_ENST00000487070.1_Splice_Site			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAGAAACTCACCTTCTGGAGC	0.502																																																0			2											67	68	68					2																	97271056		1966	4150	6116	96634783	SO:0001630	splice_region_variant	55683			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1933+1G>T	2.37:g.97271056C>A			96634783	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Splice_Site	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433810	0.83776	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8208	0.78644	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1310	96634783	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.610000	0.67668	2.813000	0.96785	0.561000	0.74099	.		0.502	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	Intron	A	97271056	C	A	97271056	5	1	435	1	0	0	0	0	0	0	1	0	8222	521	18	3	730	3	KIAA1310	2	97271056	Splice_Site	SNP	C	TCGA-61-1906-01A-01W-0639-09	41126037	97271056	145928317	9	23991											
ZC3H6	376940	genome.wustl.edu	37	2	113069414	113069414	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:113069414G>T	ENST00000409871.1	+	5	1048	c.647G>T	c.(646-648)gGt>gTt	p.G216V	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G216V	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	216							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTTAATGTTGGTCGTGGACGT	0.338																																																0			2											67	65	66					2																	113069414		1821	4070	5891	112785885	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.647G>T	2.37:g.113069414G>T	ENSP00000386764:p.Gly216Val		112785885	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462182	0.43736	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.20200	2.09;2.09	5.11	4.23	0.50019	.	0.292400	0.36444	N	0.002596	T	0.20333	0.0489	L	0.39245	1.2	0.80722	D	1	B	0.24368	0.102	B	0.23419	0.046	T	0.03651	-1.1016	10	0.66056	D	0.02	-4.7242	14.6596	0.68861	0.0:0.1562:0.8438:0.0	.	216	P61129	ZC3H6_HUMAN	V	216;216;193	ENSP00000386764:G216V;ENSP00000340298:G216V	ENSP00000340298:G216V	G	+	2	0	ZC3H6	112785885	1.000000	0.71417	0.888000	0.34837	0.816000	0.46133	2.638000	0.46562	1.260000	0.44134	0.561000	0.74099	GGT		0.338	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		T	113069414	G	T	113069414	3	4	435	1	0	0	0	0	1	0	0	0	17571	1261	44	3	665	3	ZC3H6	2	113069414	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	15798358	113069414	130129959	10	23992											
GPD2	2820	genome.wustl.edu	37	2	157407246	157407246	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:157407246C>A	ENST00000310454.6	+	8	1331	c.959C>A	c.(958-960)cCt>cAt	p.P320H	GPD2_ENST00000438166.2_Missense_Mutation_p.P320H|GPD2_ENST00000409674.1_Missense_Mutation_p.P320H|GPD2_ENST00000540309.1_Missense_Mutation_p.P320H|GPD2_ENST00000409125.4_Missense_Mutation_p.P93H	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	320					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ATTGTGATGCCTGGTTATTAC	0.453																																																0			2											81	75	77					2																	157407246		2203	4300	6503	157115492	SO:0001583	missense	2820				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.959C>A	2.37:g.157407246C>A	ENSP00000308610:p.Pro320His		157115492	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963071	0.92791	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	5.78	5.78	0.91487	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	H	0.95645	3.7	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95315	0.8415	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	320	P43304	GPDM_HUMAN	H	320;93;320;320;320	ENSP00000308610:P320H;ENSP00000386484:P93H;ENSP00000409708:P320H;ENSP00000440892:P320H;ENSP00000386425:P320H	ENSP00000308610:P320H	P	+	2	0	GPD2	157115492	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	CCT		0.453	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			A	157407246	C	A	157407246	3	1	435	1	0	0	0	0	1	0	0	0	6606	681	24	3	985	3	GPD2	2	157407246	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09	44337832	157407246	85792127	11	23993											
TTN	7273	genome.wustl.edu	37	2	179598572	179598572	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:179598572C>T	ENST00000591111.1	-	51	14817	c.14593G>A	c.(14593-14595)Gga>Aga	p.G4865R	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G5182R|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G3938R			Q8WZ42	TITIN_HUMAN	titin	12247	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGGTTTGTCCTCCTAGTGCA	0.413																																																0			2											102	97	99					2																	179598572		1930	4137	6067	179306817	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14593G>A	2.37:g.179598572C>T	ENSP00000465570:p.Gly4865Arg		179306817	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.08	2.726877	0.48833	.	.	ENSG00000155657	ENST00000342992	T	0.81330	-1.48	5.99	5.99	0.97316	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	D	0.93674	0.7979	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94708	0.7889	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	4865	Q8WZ42	TITIN_HUMAN	R	3938	ENSP00000343764:G3938R	ENSP00000343764:G3938R	G	-	1	0	TTN	179306817	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	GGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179598572	C	T	179598572	3	4	435	1	0	0	0	0	1	0	0	0	16735	690	24	2	89225	2	TTN	2	179598572	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09	22191326	179598572	63600801	12	23994											
BZW1	9689	genome.wustl.edu	37	2	201680198	201680198	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:201680198G>A	ENST00000409600.1	+	3	654	c.199G>A	c.(199-201)Gca>Aca	p.A67T	BZW1_ENST00000452790.2_Missense_Mutation_p.A99T|BZW1_ENST00000409226.1_Missense_Mutation_p.A71T	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CCGTCGATATGCAGAAACACT	0.393																																																0			2											74	72	73					2																	201680198		1932	4146	6078	201388443	SO:0001583	missense	9689			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.199G>A	2.37:g.201680198G>A	ENSP00000386474:p.Ala67Thr		201388443	B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	CCDS56156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.707200|4.707200	0.89018|0.89018	.|.	.|.	ENSG00000082153|ENSG00000082153	ENST00000450637;ENST00000452206;ENST00000410110;ENST00000409600;ENST00000409226;ENST00000452790;ENST00000447069;ENST00000419090|ENST00000431249	T;T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82600|0.82600	0.5072|0.5072	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	P;D;P|.	0.54964|.	0.859;0.969;0.859|.	B;P;B|.	0.49752|.	0.424;0.621;0.424|.	T|T	0.83156|0.83156	-0.0101|-0.0101	10|6	0.72032|0.59425	D|D	0.01|0.04	-12.889|-12.889	20.2406|20.2406	0.98372|0.98372	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	71;99;67|.	B4DWF7;B4DLZ8;Q7L1Q6|.	.;.;BZW1_HUMAN|.	T|I	67;67;67;67;71;99;71;67|12	ENSP00000412072:A67T;ENSP00000390766:A67T;ENSP00000387086:A67T;ENSP00000386474:A67T;ENSP00000386837:A71T;ENSP00000394316:A99T;ENSP00000393587:A71T;ENSP00000407268:A67T|.	ENSP00000386837:A71T|ENSP00000391867:M12I	A|M	+|+	1|3	0|0	BZW1|BZW1	201388443|201388443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.715000|9.715000	0.98748|0.98748	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GCA|ATG		0.393	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		A	201680198	G	A	201680198	3	1	435	1	0	0	0	0	1	0	0	0	1578	1319	46	2	205	2	BZW1	2	201680198	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	22081626	201680198	41519175	13	23995											
MAP2	4133	genome.wustl.edu	37	2	210557915	210557915	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:210557915G>T	ENST00000360351.4	+	7	1527	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	MAP2_ENST00000447185.1_Missense_Mutation_p.A337S|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	341					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCGCCCTTTGCCCCTGCCTT	0.443																																					Pancreas(27;423 979 28787 29963)											0			2											61	66	64					2																	210557915		2203	4300	6503	210266160	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1021G>T	2.37:g.210557915G>T	ENSP00000353508:p.Ala341Ser		210266160	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	1.144	-0.648790	0.03506	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.28895	3.14;1.59;3.14	5.53	1.63	0.23807	.	0.558743	0.17414	N	0.175083	T	0.26557	0.0649	M	0.62723	1.935	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.28004	-1.0057	10	0.62326	D	0.03	-1.1834	4.3449	0.11127	0.1347:0.1024:0.5379:0.225	.	337;341	P11137-3;P11137	.;MAP2_HUMAN	S	341;423;337	ENSP00000353508:A341S;ENSP00000409969:A423S;ENSP00000392164:A337S	ENSP00000353508:A341S	A	+	1	0	MAP2	210266160	0.000000	0.05858	0.813000	0.32504	0.036000	0.12997	-0.351000	0.07711	0.087000	0.17167	-0.961000	0.02630	GCC		0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		T	210557915	G	T	210557915	3	4	435	1	0	0	0	0	1	0	0	0	9235	1319	46	3	1035	3	MAP2	2	210557915	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	8877717	210557915	32641458	14	23996											
FLNB	2317	genome.wustl.edu	37	3	58062868	58062868	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:58062868G>C	ENST00000295956.4	+	2	553	c.388G>C	c.(388-390)Gat>Cat	p.D130H	FLNB_ENST00000493452.1_5'Flank|FLNB_ENST00000358537.3_Missense_Mutation_p.D130H|FLNB_ENST00000348383.5_Missense_Mutation_p.D130H|FLNB_ENST00000357272.4_Missense_Mutation_p.D130H|FLNB_ENST00000419752.2_5'Flank|FLNB_ENST00000429972.2_Missense_Mutation_p.D130H|FLNB_ENST00000490882.1_Missense_Mutation_p.D130H	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	130	Actin-binding.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGTGTGGGAGGATGAAGGGGA	0.537																																																0			3											111	103	106					3																	58062868		2203	4300	6503	58037908	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.388G>C	3.37:g.58062868G>C	ENSP00000295956:p.Asp130His		58037908	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625825	0.87560	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.04	5.04	0.67666	Calponin homology domain (2);	0.046036	0.85682	D	0.000000	D	0.96027	0.8706	M	0.66506	2.035	0.80722	D	1	D;D;D;D	0.60160	0.987;0.958;0.977;0.977	P;P;B;B	0.50537	0.643;0.602;0.44;0.44	D	0.96480	0.9355	10	0.72032	D	0.01	.	18.7458	0.91792	0.0:0.0:1.0:0.0	.	130;130;130;130	O75369-2;B2ZZ83;Q60FE7;O75369	.;.;.;FLNB_HUMAN	H	130	ENSP00000295956:D130H;ENSP00000420213:D130H;ENSP00000351339:D130H;ENSP00000415599:D130H;ENSP00000232447:D130H;ENSP00000349819:D130H	ENSP00000295956:D130H	D	+	1	0	FLNB	58037908	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.496000	0.84212	0.455000	0.32223	GAT		0.537	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		C	58062868	G	C	58062868	3	2	435	1	0	0	0	0	1	0	0	0	5934	1174	41	3	394	3	FLNB	3	58062868	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09		58062868	139959562	15	23997											
PRICKLE2	166336	genome.wustl.edu	37	3	64085383	64085383	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:64085383G>C	ENST00000295902.6	-	8	2464	c.1879C>G	c.(1879-1881)Ccc>Gcc	p.P627A	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P683A|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	627					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TAGCCAATGGGGTTGCTGAGC	0.592																																																0			3											114	104	107					3																	64085383		2203	4300	6503	64060423	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1879C>G	3.37:g.64085383G>C	ENSP00000295902:p.Pro627Ala		64060423	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560907	0.27827	.	.	ENSG00000163637	ENST00000295902	D	0.84298	-1.83	5.62	4.74	0.60224	.	0.158265	0.45126	D	0.000390	T	0.76364	0.3977	L	0.36672	1.1	0.41148	D	0.986009	B	0.30406	0.278	B	0.24974	0.057	T	0.73811	-0.3865	10	0.44086	T	0.13	-33.2305	9.2988	0.37833	0.0719:0.0:0.7822:0.1459	.	627	Q7Z3G6	PRIC2_HUMAN	A	627	ENSP00000295902:P627A	ENSP00000295902:P627A	P	-	1	0	PRICKLE2	64060423	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.534000	0.60622	1.356000	0.45884	0.591000	0.81541	CCC		0.592	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		C	64085383	G	C	64085383	3	2	435	1	0	0	0	0	1	0	0	0	12490	1232	43	3	659	3	PRICKLE2	3	64085383	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	6022515	64085383	133937047	16	23998											
EPHB1	2047	genome.wustl.edu	37	3	134670330	134670330	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:134670330G>A	ENST00000398015.3	+	3	611	c.241G>A	c.(241-243)Ggg>Agg	p.G81R	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	81	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAACCGGCGGGGGGCCCATCG	0.537																																																0			3											29	32	31					3																	134670330		2050	4211	6261	136153020	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.241G>A	3.37:g.134670330G>A	ENSP00000381097:p.Gly81Arg		136153020	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567573	0.86439	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000473867;ENST00000474732	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.55	5.55	0.83447	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.062033	0.64402	D	0.000005	T	0.34774	0.0909	M	0.70842	2.15	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.939	T	0.01432	-1.1356	10	0.48119	T	0.1	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	81;81	B5A969;P54762	.;EPHB1_HUMAN	R	59;81;59;59	ENSP00000417435:G59R;ENSP00000381097:G81R;ENSP00000417216:G59R;ENSP00000418352:G59R	ENSP00000381097:G81R	G	+	1	0	EPHB1	136153020	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.713000	0.68415	2.603000	0.88011	0.650000	0.86243	GGG		0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		A	134670330	G	A	134670330	3	1	435	1	0	0	0	0	1	0	0	0	5174	1232	43	2	251	2	EPHB1	3	134670330	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	70584947	134670330	63352100	17	23999											
P2RY1	5028	genome.wustl.edu	37	3	152553925	152553925	+	Silent	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:152553925C>A	ENST00000305097.3	+	1	1190	c.354C>A	c.(352-354)atC>atA	p.I118I		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	118					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CAGACTGGATCTTCGGGGATG	0.488																																																0			3											79	77	78					3																	152553925		2203	4300	6503	154036615	SO:0001819	synonymous_variant	5028			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.354C>A	3.37:g.152553925C>A			154036615		Silent	SNP	ENST00000305097.3	37	CCDS3169.1																																																																																				0.488	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		A	152553925	C	A	152553925	2	1	435	1	0	0	0	0	0	0	0	1	11346	903	32	3		3	P2RY1	3	152553925	Silent	SNP	C	TCGA-61-1906-01A-01W-0639-09	17883595	152553925	45468505	18	24000											
CCNL1	57018	genome.wustl.edu	37	3	156866153	156866153	+	Silent	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:156866153C>T	ENST00000295926.3	-	11	1576	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	486					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GCCTGTGTTTCTTGGCTGCAT	0.473																																																0			3											255	226	236					3																	156866153		2203	4300	6503	158348847	SO:0001819	synonymous_variant	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1458G>A	3.37:g.156866153C>T			158348847	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	ENST00000295926.3	37	CCDS3178.1																																																																																				0.473	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		T	156866153	C	T	156866153	2	4	435	1	0	0	0	0	0	0	0	1	2931	912	32	2		2	CCNL1	3	156866153	Silent	SNP	C	TCGA-61-1906-01A-01W-0639-09	4312228	156866153	41156277	19	24001											
ATP13A5	344905	genome.wustl.edu	37	3	193052838	193052838	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:193052838T>A	ENST00000342358.4	-	10	1111	c.994A>T	c.(994-996)Atg>Ttg	p.M332L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	332						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCCAAGGCATAGTGTTCTCC	0.448																																																0			3											193	181	185					3																	193052838		2203	4300	6503	194535532	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.994A>T	3.37:g.193052838T>A	ENSP00000341942:p.Met332Leu		194535532	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	0.879	-0.729225	0.03135	.	.	ENSG00000187527	ENST00000342358	D	0.82526	-1.62	6.11	1.11	0.20524	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.099970	0.06664	N	0.765079	T	0.68988	0.3061	N	0.13098	0.295	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49409	-0.8943	10	0.16896	T	0.51	-0.011	9.8472	0.41034	0.0:0.3459:0.0:0.6541	.	332	Q4VNC0	AT135_HUMAN	L	332	ENSP00000341942:M332L	ENSP00000341942:M332L	M	-	1	0	ATP13A5	194535532	0.000000	0.05858	0.003000	0.11579	0.066000	0.16364	-0.326000	0.07965	-0.032000	0.13758	-0.274000	0.10170	ATG		0.448	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		A	193052838	T	A	193052838	3	1	435	1	0	0	0	0	1	0	0	0	1127	1406	49	5	2744	5	ATP13A5	3	193052838	Missense_Mutation	SNP	T	TCGA-61-1906-01A-01W-0639-09	36186685	193052838	4969592	20	24002											
EGFLAM	133584	genome.wustl.edu	37	5	38407095	38407095	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr5:38407095G>A	ENST00000354891.3	+	8	1340	c.994G>A	c.(994-996)Ggg>Agg	p.G332R	EGFLAM_ENST00000322350.5_Missense_Mutation_p.G332R|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G98R	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	332					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACAGAGAAAGGGGAAGAATGG	0.512																																					Colon(62;485 1295 3347 17454)											0			5											143	135	138					5																	38407095		2203	4300	6503	38442852	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.994G>A	5.37:g.38407095G>A	ENSP00000346964:p.Gly332Arg		38442852	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	6.321	0.427395	0.11987	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79033	0.88;0.71;-1.23	5.91	3.9	0.45041	.	0.321093	0.38217	N	0.001772	T	0.58075	0.2097	L	0.34521	1.04	0.24752	N	0.992976	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.11329	0.002;0.003;0.006	T	0.28554	-1.0040	10	0.14252	T	0.57	-20.7271	0.4675	0.00526	0.2606:0.1956:0.3428:0.201	.	98;332;332	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	R	332;332;98;98	ENSP00000346964:G332R;ENSP00000313084:G332R;ENSP00000337607:G98R	ENSP00000313084:G332R	G	+	1	0	EGFLAM	38442852	0.997000	0.39634	0.098000	0.21074	0.005000	0.04900	2.119000	0.41958	1.501000	0.48654	0.655000	0.94253	GGG		0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		A	38407095	G	A	38407095	3	1	435	1	0	0	0	0	1	0	0	0	4966	1232	43	2	1038	2	EGFLAM	5	38407095	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09		38407095	142508165	21	24003											
MARCH3	115123	genome.wustl.edu	37	5	126213925	126213925	+	Silent	SNP	C	C	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr5:126213925C>G	ENST00000308660.5	-	4	1069	c.555G>C	c.(553-555)ctG>ctC	p.L185L		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	185					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		TGAGTGCAATCAGTCCGACGG	0.572																																																0			5											78	70	73					5																	126213925		2203	4300	6503	126241824	SO:0001819	synonymous_variant	115123			AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28728	protein-coding gene	gene with protein product		613333	"membrane-associated ring finger (C3HC4) 3"			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.555G>C	5.37:g.126213925C>G			126241824	A8K264|B9EJE7	Silent	SNP	ENST00000308660.5	37	CCDS4141.1																																																																																				0.572	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450		G	126213925	C	G	126213925	2	3	435	1	0	0	0	0	0	0	0	1	9302	813	29	3		3	MARCH3	5	126213925	Silent	SNP	C	TCGA-61-1906-01A-01W-0639-09	87806830	126213925	54701335	22	24004											
TNPO3	23534	genome.wustl.edu	37	7	128640522	128640522	+	Silent	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr7:128640522C>T	ENST00000265388.5	-	7	1115	c.972G>A	c.(970-972)ctG>ctA	p.L324L	TNPO3_ENST00000471234.1_Silent_p.L324L|TNPO3_ENST00000393245.1_Silent_p.L324L|TNPO3_ENST00000471166.1_Silent_p.L324L|TNPO3_ENST00000482320.1_Silent_p.L258L			Q9Y5L0	TNPO3_HUMAN	transportin 3	324					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCAGCAGCTCCAGAGTTCGAA	0.408																																					Pancreas(147;583 2585 39696 52331)											0			7											83	89	87					7																	128640522		2203	4300	6503	128427758	SO:0001819	synonymous_variant	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.972G>A	7.37:g.128640522C>T			128427758	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	CCDS5809.1																																																																																				0.408	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		T	128640522	C	T	128640522	2	4	435	1	0	0	0	0	0	0	0	1	16337	581	21	2		2	TNPO3	7	128640522	Silent	SNP	C	TCGA-61-1906-01A-01W-0639-09		128640522	30498141	23	24005											
RNF122	79845	genome.wustl.edu	37	8	33408878	33408878	+	Missense_Mutation	SNP	C	C	T	rs267601903		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr8:33408878C>T	ENST00000256257.1	-	3	613	c.212G>A	c.(211-213)cGa>cAa	p.R71Q		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	71						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		ATATCCGTATCGCTCACTCTG	0.498																																																0			8											162	132	142					8																	33408878		2203	4300	6503	33528420	SO:0001583	missense	79845			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"RING-type (C3HC4) zinc fingers"	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.212G>A	8.37:g.33408878C>T	ENSP00000256257:p.Arg71Gln		33528420	Q52LK3	Missense_Mutation	SNP	ENST00000256257.1	37	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438805	0.62955	.	.	ENSG00000133874	ENST00000256257	T	0.34275	1.37	5.88	5.88	0.94601	.	0.060916	0.64402	D	0.000002	T	0.24470	0.0593	L	0.27053	0.805	0.58432	D	0.999999	P	0.36412	0.552	B	0.22753	0.041	T	0.03739	-1.1008	10	0.26408	T	0.33	-9.7067	18.0153	0.89238	0.0:1.0:0.0:0.0	.	71	Q9H9V4	RN122_HUMAN	Q	71	ENSP00000256257:R71Q	ENSP00000256257:R71Q	R	-	2	0	RNF122	33528420	0.913000	0.31002	1.000000	0.80357	0.987000	0.75469	4.178000	0.58284	2.782000	0.95742	0.655000	0.94253	CGA		0.498	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		T	33408878	C	T	33408878	3	4	435	1	0	0	0	0	1	0	0	0	13435	884	31	1	271	1	RNF122	8	33408878	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09		33408878	112955144	24	24006											
LETM2	137994	genome.wustl.edu	37	8	38250299	38250299	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr8:38250299C>G	ENST00000379957.4	+	3	414	c.287C>G	c.(286-288)gCc>gGc	p.A96G	LETM2_ENST00000524874.1_Missense_Mutation_p.A96G|LETM2_ENST00000519476.2_Missense_Mutation_p.A96G|LETM2_ENST00000297720.5_Missense_Mutation_p.A49G|LETM2_ENST00000523983.2_Missense_Mutation_p.A49G	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	96						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CTGGAGCAAGCCACAAAACAT	0.443																																																0			8											52	50	50					8																	38250299		2203	4300	6503	38369456	SO:0001583	missense	137994			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.287C>G	8.37:g.38250299C>G	ENSP00000369291:p.Ala96Gly		38369456	A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37		.	.	.	.	.	.	.	.	.	.	C	7.584	0.669301	0.14776	.	.	ENSG00000165046	ENST00000527334;ENST00000519476;ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000526356	.	.	.	5.66	1.72	0.24424	.	1.288740	0.04968	N	0.463328	T	0.22003	0.0530	N	0.22421	0.69	0.09310	N	0.999998	B;B;B	0.24258	0.026;0.0;0.1	B;B;B	0.20384	0.006;0.0;0.029	T	0.19289	-1.0310	9	0.23891	T	0.37	.	1.6991	0.02868	0.2435:0.421:0.178:0.1575	.	96;96;96	Q2VYF4;E9PMA4;A8K1M9	LETM2_HUMAN;.;.	G	96;96;49;96;96;49;96	.	ENSP00000297720:A49G	A	+	2	0	LETM2	38369456	0.000000	0.05858	0.005000	0.12908	0.153000	0.21895	-0.078000	0.11375	0.029000	0.15352	0.655000	0.94253	GCC		0.443	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		G	38250299	C	G	38250299	3	3	435	1	0	0	0	0	1	0	0	0	8735	739	26	3	148	3	LETM2	8	38250299	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09	4841421	38250299	108113723	25	24007											
ADAM2	2515	genome.wustl.edu	37	8	39624712	39624712	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr8:39624712C>A	ENST00000265708.4	-	13	1374	c.1271G>T	c.(1270-1272)gGt>gTt	p.G424V	ADAM2_ENST00000521880.1_Missense_Mutation_p.G424V|ADAM2_ENST00000347580.4_Missense_Mutation_p.G405V|ADAM2_ENST00000379853.2_Missense_Mutation_p.G298V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	424	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACAGTTTGAACCGGCTTTAAA	0.358																																																0			8											176	168	171					8																	39624712		2203	4300	6503	39743869	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1271G>T	8.37:g.39624712C>A	ENSP00000265708:p.Gly424Val		39743869	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563607	0.45694	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.82	-3.36	0.04913	Blood coagulation inhibitor, Disintegrin (5);	.	.	.	.	T	0.41190	0.1148	H	0.97564	4.03	0.18873	N	0.999984	P;D;D;D	0.58620	0.915;0.983;0.961;0.969	P;P;P;P	0.61201	0.703;0.885;0.706;0.806	T	0.21484	-1.0244	8	.	.	.	.	5.155	0.15031	0.0:0.3178:0.2642:0.418	.	424;298;405;424	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	V	405;298;424;424	ENSP00000343854:G405V;ENSP00000369182:G298V;ENSP00000265708:G424V;ENSP00000429352:G424V	.	G	-	2	0	ADAM2	39743869	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.079000	0.11357	-1.068000	0.03156	0.655000	0.94253	GGT		0.358	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		A	39624712	C	A	39624712	3	1	435	1	0	0	0	0	1	0	0	0	241	507	18	3	968	3	ADAM2	8	39624712	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09	1374413	39624712	106739310	26	24008											
PDP1	54704	genome.wustl.edu	37	8	94935575	94935575	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr8:94935575G>T	ENST00000297598.4	+	2	1557	c.1288G>T	c.(1288-1290)Gtt>Ttt	p.V430F	PDP1_ENST00000396200.3_Missense_Mutation_p.V455F|PDP1_ENST00000520728.1_Missense_Mutation_p.V430F|PDP1_ENST00000517764.1_Missense_Mutation_p.V430F	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	430					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCAGGATGTGGTTAGGATTGT	0.498																																																0			8											91	88	89					8																	94935575		2203	4300	6503	95004751	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1288G>T	8.37:g.94935575G>T	ENSP00000297598:p.Val430Phe		95004751	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801124	0.70567	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	6.03	6.03	0.97812	Protein phosphatase 2C-like (5);	0.057071	0.64402	D	0.000002	T	0.66858	0.2832	H	0.95884	3.735	0.80722	D	1	D;D	0.63046	0.992;0.965	D;D	0.68483	0.958;0.909	T	0.76666	-0.2875	10	0.87932	D	0	-20.4708	20.5568	0.99304	0.0:0.0:1.0:0.0	.	481;430	B4DYX8;Q9P0J1	.;PDP1_HUMAN	F	430;430;455;430	ENSP00000297598:V430F;ENSP00000428317:V430F;ENSP00000379503:V455F;ENSP00000430380:V430F	ENSP00000297598:V430F	V	+	1	0	PDP1	95004751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.699000	0.74613	2.861000	0.98227	0.655000	0.94253	GTT		0.498	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		T	94935575	G	T	94935575	3	4	435	1	0	0	0	0	1	0	0	0	11685	1261	44	3	1471	3	PDP1	8	94935575	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	55310863	94935575	51428447	27	24009											
ECM2	1842	genome.wustl.edu	37	9	95264809	95264809	+	Silent	SNP	G	G	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr9:95264809G>C	ENST00000344604.5	-	8	1739	c.1590C>G	c.(1588-1590)gcC>gcG	p.A530A	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.A508A	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	530					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GATTTATCCAGGCTAAAGGAG	0.303																																																0			9											132	131	131					9																	95264809		2201	4300	6501	94304630	SO:0001819	synonymous_variant	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1590C>G	9.37:g.95264809G>C			94304630	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	37	CCDS6698.1																																																																																				0.303	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		C	95264809	G	C	95264809	2	2	435	1	0	0	0	0	0	0	0	1	4898	987	35	3		3	ECM2	9	95264809	Silent	SNP	G	TCGA-61-1906-01A-01W-0639-09		95264809	45948622	28	24010											
PCDH15	65217	genome.wustl.edu	37	10	55721637	55721637	+	Missense_Mutation	SNP	G	G	A	rs201816080	byFrequency	TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:55721637G>A	ENST00000320301.6	-	22	3278	c.2884C>T	c.(2884-2886)Cgt>Tgt	p.R962C	PCDH15_ENST00000409834.1_Missense_Mutation_p.R573C|PCDH15_ENST00000373965.2_Missense_Mutation_p.R969C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R967C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R891C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R962C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R962C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R925C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R969C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R940C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R962C|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	962	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACCTCACACGACTTGCAGGT	0.313										HNSCC(58;0.16)			G|||	7	0.00139776	0	0	5008	,	,		12730	0.006		0	False		,,,				2504	0.001															0			10											84	83	84					10																	55721637		2203	4299	6502	55391643	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2884C>T	10.37:g.55721637G>A	ENSP00000322604:p.Arg962Cys		55391643	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	15.18	2.756703	0.49362	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.04	4.13	0.48395	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68522	0.3010	M	0.89601	3.045	0.52099	D	0.999946	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.995;1.0;0.999;1.0;0.984;0.995;0.995;0.999;0.997;0.999	D;P;P;P;D;P;D;P;P;P;P;D;D	0.72625	0.969;0.892;0.892;0.86;0.978;0.892;0.969;0.849;0.86;0.86;0.892;0.93;0.93	T	0.76683	-0.2869	9	0.62326	D	0.03	.	11.4617	0.50215	0.0:0.0:0.556:0.444	.	940;962;962;967;891;925;962;962;969;969;962;967;962	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	969;967;962;962;573;969;925;962;940;962;962;967;891	ENSP00000363076:R969C;ENSP00000410304:R967C;ENSP00000378826:R962C;ENSP00000386693:R573C;ENSP00000378832:R969C;ENSP00000378820:R925C;ENSP00000354950:R962C;ENSP00000378821:R940C;ENSP00000322604:R962C;ENSP00000378818:R962C;ENSP00000412628:R891C	ENSP00000322604:R962C	R	-	1	0	PCDH15	55391643	0.988000	0.35896	1.000000	0.80357	0.851000	0.48451	1.459000	0.35234	1.102000	0.41551	0.467000	0.42956	CGT		0.313	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55721637	G	A	55721637	3	1	435	1	0	0	0	0	1	0	0	0	11511	1058	37	1	4650	1	PCDH15	10	55721637	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09		55721637	79813110	29	24011											
COL13A1	1305	genome.wustl.edu	37	10	71654430	71654430	+	Splice_Site	SNP	G	G	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:71654430G>C	ENST00000398978.3	+	11	1095		c.e11-1		COL13A1_ENST00000357811.3_Splice_Site|COL13A1_ENST00000398969.3_Splice_Site|COL13A1_ENST00000520133.1_Splice_Site|COL13A1_ENST00000517713.1_Splice_Site|COL13A1_ENST00000398972.3_Splice_Site|COL13A1_ENST00000398973.3_Splice_Site|COL13A1_ENST00000354547.3_Splice_Site|COL13A1_ENST00000398971.3_Splice_Site|COL13A1_ENST00000398974.3_Splice_Site|COL13A1_ENST00000398964.3_Splice_Site|COL13A1_ENST00000356340.3_Splice_Site|COL13A1_ENST00000520267.1_Splice_Site|COL13A1_ENST00000398966.3_Splice_Site|COL13A1_ENST00000522165.1_Splice_Site|COL13A1_ENST00000398968.3_Splice_Site	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						TCTCTTTGTAGGGACCCCAGG	0.498																																																0			10											109	116	114					10																	71654430		1872	4108	5980	71324436	SO:0001630	splice_region_variant	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.604-1G>C	10.37:g.71654430G>C			71324436		Splice_Site	SNP	ENST00000398978.3	37	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927615	0.73327	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1583	0.81680	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL13A1	71324436	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	5.415000	0.66411	2.627000	0.88993	0.650000	0.86243	.		0.498	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203	Intron	C	71654430	G	C	71654430	5	2	435	1	0	0	0	0	0	0	1	0	3670	1014	35	3	645	3	COL13A1	10	71654430	Splice_Site	SNP	G	TCGA-61-1906-01A-01W-0639-09	15932793	71654430	63880317	30	24012											
VCL	7414	genome.wustl.edu	37	10	75874629	75874629	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:75874629C>A	ENST00000211998.4	+	21	3324	c.3230C>A	c.(3229-3231)aCc>aAc	p.T1077N	VCL_ENST00000372755.3_Missense_Mutation_p.T1009N|VCL_ENST00000417648.2_Missense_Mutation_p.T270N	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1077	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CTGGGCCGGACCAACATCAGT	0.478																																																0			10											90	80	83					10																	75874629		2203	4299	6502	75544635	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3230C>A	10.37:g.75874629C>A	ENSP00000211998:p.Thr1077Asn		75544635	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823528	0.71143	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000537043;ENST00000436396	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.87	5.87	0.94306	.	0.172417	0.53938	D	0.000047	T	0.53158	0.1779	L	0.32530	0.975	0.80722	D	1	B;D;B;P	0.63046	0.009;0.992;0.125;0.923	B;D;B;D	0.74023	0.006;0.982;0.063;0.942	T	0.30504	-0.9976	10	0.11182	T	0.66	.	20.2032	0.98269	0.0:1.0:0.0:0.0	.	270;936;1009;1077	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	N	1009;1077;270;936;749	ENSP00000361841:T1009N;ENSP00000211998:T1077N;ENSP00000411887:T270N;ENSP00000415489:T749N	ENSP00000211998:T1077N	T	+	2	0	VCL	75544635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.785000	0.95823	0.650000	0.86243	ACC		0.478	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		A	75874629	C	A	75874629	3	1	435	1	0	0	0	0	1	0	0	0	17139	507	18	3	3312	3	VCL	10	75874629	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09	4220199	75874629	59660118	31	24013											
LRIT1	26103	genome.wustl.edu	37	10	85992396	85992396	+	Missense_Mutation	SNP	G	G	C	rs558942918		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:85992396G>C	ENST00000372105.3	-	4	1180	c.1159C>G	c.(1159-1161)Ccc>Gcc	p.P387A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	387						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCGGGTTTGGGAATCTGGGGG	0.607													G|||	1	0.000199681	0	0	5008	,	,		18893	0		0	False		,,,				2504	0.001															0			10											60	48	52					10																	85992396		2203	4300	6503	85982376	SO:0001583	missense	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1159C>G	10.37:g.85992396G>C	ENSP00000361177:p.Pro387Ala		85982376	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	2.115	-0.402713	0.04865	.	.	ENSG00000148602	ENST00000372105	T	0.35236	1.32	5.66	3.44	0.39384	.	0.467665	0.24635	N	0.036860	T	0.20088	0.0483	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.08452	-1.0721	10	0.29301	T	0.29	.	3.1986	0.06641	0.1287:0.1822:0.5295:0.1595	.	387	Q9P2V4	LRIT1_HUMAN	A	387	ENSP00000361177:P387A	ENSP00000361177:P387A	P	-	1	0	LRIT1	85982376	0.993000	0.37304	0.005000	0.12908	0.028000	0.11728	2.182000	0.42556	1.355000	0.45865	0.655000	0.94253	CCC		0.607	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		C	85992396	G	C	85992396	3	2	435	1	0	0	0	0	1	0	0	0	8947	1174	41	3	716	3	LRIT1	10	85992396	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	10117767	85992396	49542351	32	24014											
C10orf120	399814	genome.wustl.edu	37	10	124457545	124457545	+	Nonsense_Mutation	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:124457545T>A	ENST00000329446.4	-	3	743	c.712A>T	c.(712-714)Aga>Tga	p.R238*		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	238										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ATTTCTCGTCTTTTTGTGTTT	0.358																																																0			10											100	91	94					10																	124457545		2203	4300	6503	124447535	SO:0001587	stop_gained	399814				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.712A>T	10.37:g.124457545T>A	ENSP00000331012:p.Arg238*		124447535	B2RU17	Nonsense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129516	0.77549	.	.	ENSG00000183559	ENST00000329446	.	.	.	4.39	3.25	0.37280	.	0.757532	0.12129	N	0.496944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4676	6.7136	0.23290	0.0:0.1075:0.0:0.8925	.	.	.	.	X	238	.	ENSP00000331012:R238X	R	-	1	2	C10orf120	124447535	0.002000	0.14202	0.001000	0.08648	0.404000	0.30871	1.096000	0.30976	0.822000	0.34565	-0.323000	0.08544	AGA		0.358	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		A	124457545	T	A	124457545	4	1	435	1	0	0	0	0	0	1	0	0	1590	1617	56	5	299	5	C10orf120	10	124457545	Nonsense_Mutation	SNP	T	TCGA-61-1906-01A-01W-0639-09	38465149	124457545	11077202	33	24015											
OR51B6	390058	genome.wustl.edu	37	11	5373461	5373461	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr11:5373461C>A	ENST00000380219.1	+	1	724	c.724C>A	c.(724-726)Cat>Aat	p.H242N	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	242					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGTCTCTCATATCTGCTG	0.428																																																0			11											253	221	232					11																	5373461		2201	4297	6498	5330037	SO:0001583	missense	390058				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.724C>A	11.37:g.5373461C>A	ENSP00000369568:p.His242Asn		5330037		Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172930	0.78452	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00314	8.14	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.01254	0.0041	H	0.97077	3.935	0.42048	D	0.991101	D	0.89917	1.0	D	0.81914	0.995	T	0.42275	-0.9461	10	0.87932	D	0	.	17.0945	0.86631	0.0:1.0:0.0:0.0	.	242	Q9H340	O51B6_HUMAN	N	241;242	ENSP00000369568:H242N	ENSP00000369568:H242N	H	+	1	0	OR51B6	5330037	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.381000	0.79718	2.601000	0.87937	0.557000	0.71058	CAT		0.428	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		A	5373461	C	A	5373461	3	1	435	1	0	0	0	0	1	0	0	0	11092	826	29	3	726	3	OR51B6	11	5373461	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09		5373461	129633055	34	24016											
CATSPER1	117144	genome.wustl.edu	37	11	65793839	65793839	+	Silent	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr11:65793839G>A	ENST00000312106.5	-	1	149	c.12C>T	c.(10-12)aaC>aaT	p.N4N		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	4					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAGGCACTGAGTTTTGATCCA	0.547																																																0			11											116	99	105					11																	65793839		2201	4296	6497	65550415	SO:0001819	synonymous_variant	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.12C>T	11.37:g.65793839G>A			65550415	Q96P76	Silent	SNP	ENST00000312106.5	37	CCDS8127.1																																																																																				0.547	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		A	65793839	G	A	65793839	2	1	435	1	0	0	0	0	0	0	0	1	2687	1020	36	2		2	CATSPER1	11	65793839	Silent	SNP	G	TCGA-61-1906-01A-01W-0639-09	60420378	65793839	69212677	35	24017											
DDX11	1663	genome.wustl.edu	37	12	31256818	31256818	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr12:31256818C>G	ENST00000407793.2	+	27	3015	c.2764C>G	c.(2764-2766)Ccg>Gcg	p.P922A	DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.P922A|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	922					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTTGTCCTGCCCGCTGGAGAC	0.612										Multiple Myeloma(12;0.14)																																						0			12											71	73	72					12																	31256818		2203	4300	6503	31148085	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2764C>G	12.37:g.31256818C>G	ENSP00000384703:p.Pro922Ala		31148085	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159472	0.09236	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.72394	-0.65;-0.65	1.32	1.32	0.21799	.	.	.	.	.	T	0.43033	0.1229	N	0.08118	0	0.20638	N	0.999876	B	0.13145	0.007	B	0.08055	0.003	T	0.26189	-1.0110	9	0.10636	T	0.68	.	6.103	0.20057	0.0:1.0:0.0:0.0	.	922	Q96FC9	DDX11_HUMAN	A	922	ENSP00000384703:P922A;ENSP00000440402:P922A	ENSP00000384703:P922A	P	+	1	0	DDX11	31148085	0.000000	0.05858	0.017000	0.16124	0.011000	0.07611	-0.158000	0.10070	1.039000	0.40074	0.173000	0.16961	CCG		0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		G	31256818	C	G	31256818	3	3	435	1	0	0	0	0	1	0	0	0	4343	623	22	3	2871	3	DDX11	12	31256818	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09		31256818	102595077	36	24018											
ACCN2	41	genome.wustl.edu	37	12	50473717	50473717	+	Missense_Mutation	SNP	G	G	T	rs199923697		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr12:50473717G>T	ENST00000447966.2	+	8	1313	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	ASIC1_ENST00000228468.4_Missense_Mutation_p.V362L|ASIC1_ENST00000552438.1_Missense_Mutation_p.V396L	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	362					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GGAGTACTGCGTGTGTGAAAT	0.552																																																0			12											182	149	160					12																	50473717		2203	4300	6503	48759984	SO:0001583	missense	41			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1084G>T	12.37:g.50473717G>T	ENSP00000400228:p.Val362Leu		48759984	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857933	0.51376	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.64991	-0.13;-0.13;-0.13	4.74	4.74	0.60224	.	0.146699	0.44285	D	0.000469	T	0.52693	0.1750	L	0.41710	1.295	0.51767	D	0.999935	B;B	0.20887	0.0;0.049	B;B	0.28305	0.003;0.088	T	0.43988	-0.9357	10	0.15499	T	0.54	-31.4046	13.665	0.62389	0.077:0.0:0.923:0.0	.	362;362	P78348;P78348-1	ACCN2_HUMAN;.	L	362;362;396	ENSP00000228468:V362L;ENSP00000400228:V362L;ENSP00000450247:V396L	ENSP00000228468:V362L	V	+	1	0	ACCN2	48759984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.215000	0.51169	2.653000	0.90120	0.561000	0.74099	GTG		0.552	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		T	50473717	G	T	50473717	3	4	435	1	0	0	0	0	1	0	0	0	129	1145	40	3	1110	3	ACCN2	12	50473717	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	19216899	50473717	83378178	37	24019											
STAB2	55576	genome.wustl.edu	37	12	103984798	103984798	+	Nonsense_Mutation	SNP	C	C	T	rs202064459		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr12:103984798C>T	ENST00000388887.2	+	2	409	c.205C>T	c.(205-207)Cga>Tga	p.R69*	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTAGGGGTTCGAGATTGCAG	0.458																																																0			12											123	119	120					12																	103984798		2203	4300	6503	102508928	SO:0001587	stop_gained	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.205C>T	12.37:g.103984798C>T	ENSP00000373539:p.Arg69*		102508928		Nonsense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042159	0.93685	.	.	ENSG00000136011	ENST00000388887	.	.	.	6.02	4.18	0.49190	.	0.210963	0.30109	N	0.010386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	12.5369	0.56145	0.4382:0.5617:0.0:0.0	.	.	.	.	X	69	.	ENSP00000373539:R69X	R	+	1	2	STAB2	102508928	0.651000	0.27340	0.267000	0.24556	0.012000	0.07955	1.054000	0.30455	0.858000	0.35431	-0.182000	0.12963	CGA		0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	103984798	C	T	103984798	4	4	435	1	0	0	0	0	0	1	0	0	15240	876	31	1	211	1	STAB2	12	103984798	Nonsense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09	53511081	103984798	29867097	38	24020											
LRCH1	23143	genome.wustl.edu	37	13	47262009	47262009	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr13:47262009A>C	ENST00000389798.3	+	6	1042	c.845A>C	c.(844-846)cAc>cCc	p.H282P	LRCH1_ENST00000311191.6_Missense_Mutation_p.H282P|LRCH1_ENST00000389797.3_Missense_Mutation_p.H282P	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	282										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GGCAAAGTTCACATATTTAAG	0.363																																																0			13											77	80	79					13																	47262009		2203	4300	6503	46160010	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.845A>C	13.37:g.47262009A>C	ENSP00000374448:p.His282Pro		46160010	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187223	0.78789	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929;ENST00000478412	T;T;T;T	0.19105	2.46;2.46;2.46;2.17	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.91663	3.23	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.259	D;D;D;B	0.97110	0.997;1.0;0.999;0.216	T	0.66015	-0.6028	10	0.72032	D	0.01	-4.5544	14.8613	0.70384	1.0:0.0:0.0:0.0	.	282;282;282;282	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	P	282;282;282;28;28	ENSP00000308493:H282P;ENSP00000374448:H282P;ENSP00000374447:H282P;ENSP00000419256:H28P	ENSP00000308493:H282P	H	+	2	0	LRCH1	46160010	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.586000	0.90806	2.179000	0.69175	0.477000	0.44152	CAC		0.363	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		C	47262009	A	C	47262009	3	2	435	1	0	0	0	0	1	0	0	0	8932	159	6	5	867	5	LRCH1	13	47262009	Missense_Mutation	SNP	A	TCGA-61-1906-01A-01W-0639-09		47262009	67907869	39	24021											
PCDH9	5101	genome.wustl.edu	37	13	67800287	67800287	+	Silent	SNP	C	C	T	rs140996034		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr13:67800287C>T	ENST00000377865.2	-	1	2420	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	PCDH9_ENST00000328454.5_Silent_p.K762K|PCDH9_ENST00000377861.3_Silent_p.K762K|PCDH9_ENST00000456367.1_Silent_p.K762K|PCDH9_ENST00000544246.1_Silent_p.K762K			Q9HC56	PCDH9_HUMAN	protocadherin 9	762	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTGCAAAGACTTAGGGTACC	0.458																																																0			13											134	124	128					13																	67800287		2203	4300	6503	66698288	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2286G>A	13.37:g.67800287C>T			66698288	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	CCDS9444.1																																																																																				0.458	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		T	67800287	C	T	67800287	2	4	435	1	0	0	0	0	0	0	0	1	11518	564	20	2		2	PCDH9	13	67800287	Silent	SNP	C	TCGA-61-1906-01A-01W-0639-09	20538278	67800287	47369591	40	24022											
ZC3H14	79882	genome.wustl.edu	37	14	89068427	89068427	+	Splice_Site	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr14:89068427G>A	ENST00000251038.5	+	11	1739	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	ZC3H14_ENST00000393514.5_Splice_Site_p.R480Q|ZC3H14_ENST00000555755.1_Splice_Site_p.R505Q|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555900.1_Splice_Site_p.R207Q|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	505						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATGCAGACACGGTAGATGGTT	0.473																																																0			14											166	154	158					14																	89068427		2203	4300	6503	88138180	SO:0001630	splice_region_variant	79882			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1514+1G>A	14.37:g.89068427G>A			88138180	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.253853|5.253853	0.95336|0.95336	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000555755;ENST00000393514;ENST00000555900;ENST00000557737	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.393700	.|0.25083	.|N	.|0.033276	T|T	0.78704|0.78704	0.4325|0.4325	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;P;P	.|0.77557	.|0.99;0.895;0.895	T|T	0.77086|0.77086	-0.2718|-0.2718	5|9	.|0.51188	.|T	.|0.08	-11.3077|-11.3077	18.7402|18.7402	0.91770|0.91770	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|505;505;505	.|G3V5R4;Q6PJT7-2;Q6PJT7	.|.;.;ZC3HE_HUMAN	K|Q	421|505;480;505;505;480;207;182	.|.	.|ENSP00000251038:R505Q	E|R	+|+	1|2	0|0	ZC3H14|ZC3H14	88138180|88138180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.003000|6.003000	0.70701|0.70701	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GAG|CGA		0.473	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824	Missense_Mutation	A	89068427	G	A	89068427	5	1	435	1	0	0	0	0	0	0	1	0	17566	1130	39	1	1945	1	ZC3H14	14	89068427	Splice_Site	SNP	G	TCGA-61-1906-01A-01W-0639-09		89068427	18281113	41	24023											
INO80	54617	genome.wustl.edu	37	15	41348846	41348846	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:41348846T>C	ENST00000361937.3	-	17	2468	c.2044A>G	c.(2044-2046)Acc>Gcc	p.T682A	INO80_ENST00000401393.3_Missense_Mutation_p.T682A			Q9ULG1	INO80_HUMAN	INO80 complex subunit	682	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGAATTGGGGTCCCGGTTAGC	0.403																																																0			15											225	220	221					15																	41348846		2203	4300	6503	39136138	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2044A>G	15.37:g.41348846T>C	ENSP00000355205:p.Thr682Ala		39136138	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774674	0.90108	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.99557	-6.16;-6.16	4.8	4.8	0.61643	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	H	0.94264	3.515	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	D	0.97256	0.9901	10	0.87932	D	0	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	682	Q9ULG1	INO80_HUMAN	A	682	ENSP00000355205:T682A;ENSP00000384686:T682A	ENSP00000355205:T682A	T	-	1	0	INO80	39136138	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.815000	0.86186	2.157000	0.67596	0.482000	0.46254	ACC		0.403	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		C	41348846	T	C	41348846	3	2	435	1	0	0	0	0	1	0	0	0	7746	1667	58	4	2706	4	INO80	15	41348846	Missense_Mutation	SNP	T	TCGA-61-1906-01A-01W-0639-09		41348846	61182546	42	24024											
TMEM87A	25963	genome.wustl.edu	37	15	42528530	42528530	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:42528530T>C	ENST00000389834.4	-	10	1220	c.956A>G	c.(955-957)tAt>tGt	p.Y319C	TMEM87A_ENST00000448392.1_Missense_Mutation_p.Y258C	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	319						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GACGATGCCATATCCCAGACT	0.408																																																0			15											186	185	185					15																	42528530		2203	4299	6502	40315822	SO:0001583	missense	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.956A>G	15.37:g.42528530T>C	ENSP00000374484:p.Tyr319Cys		40315822	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.543947	0.86022	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.87080	0.2165	9	0.87932	D	0	-11.7445	15.2449	0.73499	0.0:0.0:0.0:1.0	.	319;258	Q8NBN3;Q8NBN3-3	TM87A_HUMAN;.	C	319;258;295	.	ENSP00000374484:Y319C	Y	-	2	0	TMEM87A	40315822	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.013000	0.88655	1.999000	0.58509	0.383000	0.25322	TAT		0.408	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		C	42528530	T	C	42528530	3	2	435	1	0	0	0	0	1	0	0	0	16210	1406	49	4	755	4	TMEM87A	15	42528530	Missense_Mutation	SNP	T	TCGA-61-1906-01A-01W-0639-09	1179684	42528530	60002862	43	24025											
CCNDBP1	23582	genome.wustl.edu	37	15	43478386	43478386	+	Silent	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:43478386G>A	ENST00000300213.4	+	3	446	c.204G>A	c.(202-204)acG>acA	p.T68T	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_5'UTR|RP11-473C18.3_ENST00000565685.1_RNA	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	68	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GGGAAGCCACGACTCTGACCA	0.562																																																0			15											112	97	102					15																	43478386		2203	4299	6502	41265678	SO:0001819	synonymous_variant	23582			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"D-type cyclin-interacting protein 1", "MAID protein", "HHM Protein", "grap2 cyclin interacting protein"	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.204G>A	15.37:g.43478386G>A			41265678	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	CCDS10092.1																																																																																				0.562	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142		A	43478386	G	A	43478386	2	1	435	1	0	0	0	0	0	0	0	1	2919	1045	37	1		1	CCNDBP1	15	43478386	Silent	SNP	G	TCGA-61-1906-01A-01W-0639-09	949856	43478386	59053006	44	24026											
ATP8B4	79895	genome.wustl.edu	37	15	50271866	50271866	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:50271866A>G	ENST00000284509.6	-	12	1123	c.982T>C	c.(982-984)Tgg>Cgg	p.W328R	ATP8B4_ENST00000558959.1_5'UTR|RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000559829.1_Missense_Mutation_p.W328R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	328						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATATATGACCAGAATGTTAAG	0.338																																																0			15											107	121	116					15																	50271866		2196	4295	6491	48059158	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.982T>C	15.37:g.50271866A>G	ENSP00000284509:p.Trp328Arg		48059158	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388770	0.82902	.	.	ENSG00000104043	ENST00000284509	D	0.90324	-2.65	5.68	5.68	0.88126	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96784	0.8950	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97845	1.0271	10	0.87932	D	0	.	13.927	0.63968	1.0:0.0:0.0:0.0	.	328	Q8TF62	AT8B4_HUMAN	R	328	ENSP00000284509:W328R	ENSP00000284509:W328R	W	-	1	0	ATP8B4	48059158	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.180000	0.69256	0.529000	0.55759	TGG		0.338	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		G	50271866	A	G	50271866	3	3	435	1	0	0	0	0	1	0	0	0	1197	188	7	4	2664	4	ATP8B4	15	50271866	Missense_Mutation	SNP	A	TCGA-61-1906-01A-01W-0639-09	6793480	50271866	52259526	45	24027											
RLBP1	6017	genome.wustl.edu	37	15	89758444	89758444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:89758444G>T	ENST00000268125.5	-	6	811	c.372C>A	c.(370-372)taC>taA	p.Y124*		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	124					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	AGAGCTCAGGGTACTGCAGCC	0.597																																																0			15											84	77	79					15																	89758444		2200	4299	6499	87559448	SO:0001587	stop_gained	6017			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"retinaldehyde-binding protein 1"			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.372C>A	15.37:g.89758444G>T	ENSP00000268125:p.Tyr124*		87559448	B2R667	Nonsense_Mutation	SNP	ENST00000268125.5	37	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	39	7.770190	0.98480	.	.	ENSG00000140522	ENST00000268125	.	.	.	4.65	3.72	0.42706	.	0.059550	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9644	9.689	0.40116	0.163:0.0:0.837:0.0	.	.	.	.	X	124	.	ENSP00000268125:Y124X	Y	-	3	2	RLBP1	87559448	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.315000	0.33608	1.070000	0.40811	0.561000	0.74099	TAC		0.597	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		T	89758444	G	T	89758444	4	4	435	1	0	0	0	0	0	1	0	0	13391	1256	44	3	597	3	RLBP1	15	89758444	Nonsense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09	39486578	89758444	12772948	46	24028											
SLC6A2	6530	genome.wustl.edu	37	16	55729189	55729189	+	Splice_Site	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr16:55729189G>T	ENST00000379906.2	+	7	1277		c.e7-1		SLC6A2_ENST00000566163.1_Splice_Site|SLC6A2_ENST00000219833.8_Splice_Site|SLC6A2_ENST00000568943.1_Splice_Site|SLC6A2_ENST00000567238.1_Splice_Site|SLC6A2_ENST00000414754.3_Splice_Site|SLC6A2_ENST00000561820.1_Splice_Site	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2						monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTTCCCCCAGGGATGCCCTG	0.557																																																0			16											164	112	130					16																	55729189		2198	4300	6498	54286690	SO:0001630	splice_region_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1023-1G>T	16.37:g.55729189G>T			54286690	B2R707|B4DX48|Q96KH8	Splice_Site	SNP	ENST00000379906.2	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419244	0.83559	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8908	0.88871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A2	54286690	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.107000	0.94261	2.407000	0.81776	0.650000	0.86243	.		0.557	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		Intron	T	55729189	G	T	55729189	5	4	435	1	0	0	0	0	0	0	1	0	14686	1014	35	3	1139	3	SLC6A2	16	55729189	Splice_Site	SNP	G	TCGA-61-1906-01A-01W-0639-09		55729189	34625564	47	24029											
TP53	7157	genome.wustl.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874|rs137852790|rs137852791		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000420246.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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"	156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(1)	17	GRCh37	CM012662|CM941326	TP53	M	rs28934874						55	55	55					17																	7578479		2203	4300	6503	7519204	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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser		7519204	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	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578479	G	A	7578479	3	1	435	1	0	0	0	0	1	0	0	0	16381	1261	44	2	847	2	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-61-1906-01A-01W-0639-09		7578479	73616731	48	24030											
SYNRG	11276	genome.wustl.edu	37	17	35902381	35902381	+	Silent	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr17:35902381G>A	ENST00000339208.6	-	15	3035	c.2895C>T	c.(2893-2895)gcC>gcT	p.A965A	SYNRG_ENST00000394378.2_Silent_p.A887A|SYNRG_ENST00000585472.1_Silent_p.A886A|SYNRG_ENST00000502449.2_Silent_p.A842A|SYNRG_ENST00000346661.4_Silent_p.A965A|SYNRG_ENST00000345615.4_Silent_p.A887A|SYNRG_ENST00000591288.1_Silent_p.A759A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	965					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTTAAAACTGGCAAGAGCTG	0.438																																																0			17											116	115	115					17																	35902381		2203	4300	6503	32976494	SO:0001819	synonymous_variant	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2895C>T	17.37:g.35902381G>A			32976494	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	CCDS11321.1																																																																																				0.438	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		A	35902381	G	A	35902381	2	1	435	1	0	0	0	0	0	0	0	1	15460	1335	47	2		2	SYNRG	17	35902381	Silent	SNP	G	TCGA-61-1906-01A-01W-0639-09	28323902	35902381	45292829	49	24031											
ABCA10	10349	genome.wustl.edu	37	17	67160240	67160240	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr17:67160240T>G	ENST00000269081.4	-	28	4247	c.3338A>C	c.(3337-3339)aAa>aCa	p.K1113T	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1113					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAGAATGGTTTTATTGACTTC	0.313																																																0			17											65	68	67					17																	67160240		2202	4296	6498	64671835	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3338A>C	17.37:g.67160240T>G	ENSP00000269081:p.Lys1113Thr		64671835	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	T	2.645	-0.283327	0.05642	.	.	ENSG00000154263	ENST00000269081	D	0.87179	-2.22	2.92	2.92	0.33932	.	1.211790	0.06654	U	0.763267	T	0.81069	0.4746	L	0.38175	1.15	0.20074	N	0.999934	B;B	0.19331	0.035;0.03	B;B	0.25987	0.065;0.007	T	0.64748	-0.6334	10	0.17369	T	0.5	.	7.3244	0.26547	0.0:0.0:0.0:1.0	.	105;1113	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	T	1113	ENSP00000269081:K1113T	ENSP00000269081:K1113T	K	-	2	0	ABCA10	64671835	0.006000	0.16342	0.001000	0.08648	0.039000	0.13416	1.835000	0.39181	1.211000	0.43351	0.460000	0.39030	AAA		0.313	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		G	67160240	T	G	67160240	3	3	435	1	0	0	0	0	1	0	0	0	29	1841	64	5	1345	5	ABCA10	17	67160240	Missense_Mutation	SNP	T	TCGA-61-1906-01A-01W-0639-09	31257859	67160240	14034970	50	24032											
AP3D1	8943	genome.wustl.edu	37	19	2109147	2109147	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr19:2109147T>G	ENST00000345016.5	-	28	3455	c.3224A>C	c.(3223-3225)gAt>gCt	p.D1075A	AP3D1_ENST00000350812.6_Missense_Mutation_p.D906A|AP3D1_ENST00000355272.6_Missense_Mutation_p.D1137A|AP3D1_ENST00000356926.4_Missense_Mutation_p.D1034A	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1075					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAATGCCATCGACTTTGAT	0.557																																																0			19											89	94	92					19																	2109147		2078	4230	6308	2060147	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3224A>C	19.37:g.2109147T>G	ENSP00000344055:p.Asp1075Ala		2060147	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	3.411	-0.120178	0.06838	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.4	4.4	0.53042	.	0.116625	0.64402	D	0.000020	T	0.39886	0.1095	L	0.47716	1.5	0.40120	D	0.976589	B;D;B;B	0.55385	0.245;0.971;0.245;0.206	B;P;B;B	0.50440	0.138;0.641;0.098;0.085	T	0.28650	-1.0037	10	0.07325	T	0.83	-22.4696	11.2859	0.49222	0.0:0.0:0.0:1.0	.	906;1137;1075;1034	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	A	1034;1075;1137;943;906	ENSP00000349398:D1034A;ENSP00000344055:D1075A;ENSP00000347416:D1137A;ENSP00000342321:D906A	ENSP00000341579:D943A	D	-	2	0	AP3D1	2060147	1.000000	0.71417	0.116000	0.21606	0.122000	0.20287	4.826000	0.62715	1.762000	0.52044	0.459000	0.35465	GAT		0.557	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			G	2109147	T	G	2109147	3	3	435	1	0	0	0	0	1	0	0	0	746	1435	50	5	249	5	AP3D1	19	2109147	Missense_Mutation	SNP	T	TCGA-61-1906-01A-01W-0639-09		2109147	57019836	51	24033											
BMP2	650	genome.wustl.edu	37	20	6759301	6759301	+	Silent	SNP	A	A	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr20:6759301A>G	ENST00000378827.4	+	3	1975	c.756A>G	c.(754-756)caA>caG	p.Q252Q		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	252					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						CTTTGCACCAAGATGAACACA	0.483																																																0			20											71	58	62					20																	6759301		2203	4300	6503	6707301	SO:0001819	synonymous_variant	650				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.756A>G	20.37:g.6759301A>G			6707301		Silent	SNP	ENST00000378827.4	37	CCDS13099.1																																																																																				0.483	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			G	6759301	A	G	6759301	2	3	435	1	0	0	0	0	0	0	0	1	1459	69	3	4		4	BMP2	20	6759301	Silent	SNP	A	TCGA-61-1906-01A-01W-0639-09		6759301	56266219	52	24034											
GPR34	2857	genome.wustl.edu	37	X	41554987	41554987	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chrX:41554987C>T	ENST00000378142.4	+	3	385	c.101C>T	c.(100-102)cCa>cTa	p.P34L	CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.P34L|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	34					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GACCAACCGCCACAAAACTTC	0.428																																																0			X											100	78	86					X																	41554987		2203	4300	6503	41439931	SO:0001583	missense	2857			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.101C>T	X.37:g.41554987C>T	ENSP00000367384:p.Pro34Leu		41439931	O95853	Missense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	C	1.098	-0.661936	0.03454	.	.	ENSG00000171659	ENST00000378142;ENST00000378138	T;T	0.73047	-0.71;-0.71	5.86	3.96	0.45880	.	0.759512	0.12430	N	0.469679	T	0.56321	0.1977	L	0.53249	1.67	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.48019	-0.9071	10	0.07813	T	0.8	-3.6845	2.7258	0.05213	0.1692:0.5248:0.142:0.164	.	34	Q9UPC5	GPR34_HUMAN	L	34	ENSP00000367384:P34L;ENSP00000367378:P34L	ENSP00000367378:P34L	P	+	2	0	GPR34	41439931	0.000000	0.05858	0.005000	0.12908	0.047000	0.14425	-0.052000	0.11865	2.472000	0.83506	0.594000	0.82650	CCA		0.428	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		T	41554987	C	T	41554987	3	4	435	1	0	0	0	0	1	0	0	0	6689	594	21	2	103	2	GPR34	23	41554987	Missense_Mutation	SNP	C	TCGA-61-1906-01A-01W-0639-09		41554987	113715573	53	24035											
MTOR	2475	genome.wustl.edu	37	1	11217297	11217297	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:11217297C>A	ENST00000361445.4	-	30	4457	c.4381G>T	c.(4381-4383)Gtg>Ttg	p.V1461L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1461	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCATAGGCCACAAGGGCATCC	0.542																																																0			1											167	136	147					1																	11217297		2203	4300	6503	11139884	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4381G>T	1.37:g.11217297C>A	ENSP00000354558:p.Val1461Leu		11139884	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487308	0.44249	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64438	-0.1	5.69	5.69	0.88448	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.067589	0.64402	D	0.000016	T	0.44329	0.1288	N	0.04636	-0.2	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29305	-1.0016	10	0.36615	T	0.2	.	19.8116	0.96549	0.0:1.0:0.0:0.0	.	1461	P42345	MTOR_HUMAN	L	1461	ENSP00000354558:V1461L	ENSP00000354558:V1461L	V	-	1	0	MTOR	11139884	1.000000	0.71417	0.215000	0.23724	0.780000	0.44128	4.482000	0.60257	2.674000	0.91012	0.655000	0.94253	GTG		0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11217297	C	A	11217297	3	1	436	1	0	0	0	0	1	0	0	0	9954	478	17	3	3384	3	MTOR	1	11217297	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09		11217297	238033324	1	24036											
SPEN	23013	genome.wustl.edu	37	1	16260797	16260797	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:16260797G>A	ENST00000375759.3	+	11	8266	c.8062G>A	c.(8062-8064)Ggg>Agg	p.G2688R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2688	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACCCCTGCTGGGCCCGTGAA	0.597																																																0			1											69	74	73					1																	16260797		2203	4300	6503	16133384	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8062G>A	1.37:g.16260797G>A	ENSP00000364912:p.Gly2688Arg		16133384	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888400	0.33348	.	.	ENSG00000065526	ENST00000375759	T	0.14640	2.49	3.76	3.76	0.43208	.	.	.	.	.	T	0.11239	0.0274	N	0.08118	0	0.25818	N	0.984319	D	0.58268	0.982	P	0.52909	0.713	T	0.17623	-1.0363	9	0.17832	T	0.49	-21.0029	11.3667	0.49677	0.0:0.0:1.0:0.0	.	2688	Q96T58	MINT_HUMAN	R	2688	ENSP00000364912:G2688R	ENSP00000364912:G2688R	G	+	1	0	SPEN	16133384	0.991000	0.36638	0.468000	0.27192	0.689000	0.40095	2.873000	0.48475	2.392000	0.81423	0.561000	0.74099	GGG		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		A	16260797	G	A	16260797	3	1	436	1	0	0	0	0	1	0	0	0	15040	1348	47	2	8104	2	SPEN	1	16260797	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	5043500	16260797	232989824	2	24037											
PABPC4	8761	genome.wustl.edu	37	1	40029570	40029570	+	Missense_Mutation	SNP	G	G	C	rs376164599		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:40029570G>C	ENST00000372857.3	-	11	2222	c.1430C>G	c.(1429-1431)gCt>gGt	p.A477G	PABPC4_ENST00000372858.3_Missense_Mutation_p.A493G|PABPC4_ENST00000372856.3_Intron|PABPC4_ENST00000372862.3_Intron|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	477					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAAGTCCATAGCCAAGCGGTC	0.577																																																0			1											72	70	71					1																	40029570		2203	4300	6503	39802157	SO:0001583	missense	8761			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1430C>G	1.37:g.40029570G>C	ENSP00000361948:p.Ala477Gly		39802157	B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.22|10.22	1.290243|1.290243	0.23478|0.23478	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372858;ENST00000372857|ENST00000437136;ENST00000421687	T;T|.	0.45276|.	0.9;1.51|.	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	0.228496|.	0.31082|.	N|.	0.008297|.	T|T	0.49575|0.49575	0.1565|0.1565	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.38520|0.38520	-0.9657|-0.9657	10|5	0.08837|.	T|.	0.75|.	.|.	12.3787|12.3787	0.55295|0.55295	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	477;493|.	Q13310;Q4VC03|.	PABP4_HUMAN;.|.	G|V	493;477|32;395	ENSP00000361949:A493G;ENSP00000361948:A477G|.	ENSP00000361948:A477G|.	A|L	-|-	2|1	0|2	PABPC4|PABPC4	39802157|39802157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.317000|4.317000	0.59184|0.59184	2.633000|2.633000	0.89246|0.89246	0.561000|0.561000	0.74099|0.74099	GCT|CTA		0.577	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		C	40029570	G	C	40029570	3	2	436	1	0	0	0	0	1	0	0	0	11366	971	34	3	524	3	PABPC4	1	40029570	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	23768773	40029570	209221051	3	24038											
CYP4A11	1579	genome.wustl.edu	37	1	47399896	47399896	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:47399896C>T	ENST00000310638.4	-	8	1071	c.1040G>A	c.(1039-1041)tGc>tAc	p.C347Y	CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000496519.1_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.C347Y|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C348Y	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	347					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CTCCTCCCGGCACCTCTCCTG	0.607																																																0			1											51	52	52					1																	47399896		2203	4300	6503	47172483	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1040G>A	1.37:g.47399896C>T	ENSP00000311095:p.Cys347Tyr		47172483	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	16.29	3.080799	0.55753	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.68479	-0.33;-0.33;-0.33	5.23	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	M	0.89601	3.045	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.88296	0.2946	10	0.87932	D	0	.	15.4763	0.75481	0.14:0.86:0.0:0.0	.	347	Q02928	CP4AB_HUMAN	Y	347;348;347	ENSP00000311095:C347Y;ENSP00000360971:C348Y;ENSP00000360972:C347Y	ENSP00000311095:C347Y	C	-	2	0	CYP4A11	47172483	1.000000	0.71417	0.998000	0.56505	0.293000	0.27360	5.951000	0.70273	1.325000	0.45301	0.650000	0.86243	TGC		0.607	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		T	47399896	C	T	47399896	3	4	436	1	0	0	0	0	1	0	0	0	4183	710	25	2	539	2	CYP4A11	1	47399896	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	7370326	47399896	201850725	4	24039											
TMEM48	55706	genome.wustl.edu	37	1	54233690	54233690	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:54233690C>T	ENST00000371429.3	-	18	2576	c.1978G>A	c.(1978-1980)Gca>Aca	p.A660T	NDC1_ENST00000234725.8_Missense_Mutation_p.A545T|NDC1_ENST00000540001.1_3'UTR|SNORA58_ENST00000364133.1_RNA|NDC1_ENST00000537333.1_Missense_Mutation_p.A325T	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	660					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TGATGTTCTGCAGATGCTTGC	0.333																																																0			1											92	85	88					1																	54233690		2202	4299	6501	54006278	SO:0001583	missense	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1978G>A	1.37:g.54233690C>T	ENSP00000360483:p.Ala660Thr		54006278	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269450	0.23221	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T;T	0.47177	0.85;0.85;0.85	5.89	5.89	0.94794	.	0.212706	0.49916	D	0.000129	T	0.24812	0.0602	N	0.11201	0.11	0.80722	D	1	B;B	0.25667	0.064;0.131	B;B	0.24974	0.027;0.057	T	0.19712	-1.0297	10	0.12103	T	0.63	.	8.1011	0.30857	0.0:0.7525:0.1614:0.0861	.	620;660	B4DHA3;Q9BTX1	.;NDC1_HUMAN	T	660;543;325;545	ENSP00000360483:A660T;ENSP00000439947:A325T;ENSP00000234725:A545T	ENSP00000234725:A545T	A	-	1	0	TMEM48	54006278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.358000	0.34102	2.787000	0.95880	0.591000	0.81541	GCA		0.333	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		T	54233690	C	T	54233690	3	4	436	1	0	0	0	0	1	0	0	0	16172	710	25	2	50	2	TMEM48	1	54233690	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	6833794	54233690	195016931	5	24040											
BSND	7809	genome.wustl.edu	37	1	55472818	55472818	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:55472818C>G	ENST00000371265.4	+	3	675	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	141					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCAGCCGAAGCTGGGAACCAG	0.607																																					Ovarian(191;1657 2078 22894 42033 48899)											0			1											77	73	74					1																	55472818		2203	4300	6503	55245406	SO:0001583	missense	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.421C>G	1.37:g.55472818C>G	ENSP00000360312:p.Leu141Val		55245406	Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	CCDS602.1	.	.	.	.	.	.	.	.	.	.	C	7.454	0.643379	0.14451	.	.	ENSG00000162399	ENST00000371265	T	0.64085	-0.08	3.89	1.94	0.25998	.	1.110930	0.06955	N	0.815265	T	0.44371	0.1290	N	0.22421	0.69	0.09310	N	1	B	0.24426	0.103	B	0.28011	0.085	T	0.34004	-0.9846	10	0.13108	T	0.6	4.0E-4	4.519	0.11950	0.4115:0.4793:0.0:0.1093	.	141	Q8WZ55	BSND_HUMAN	V	141	ENSP00000360312:L141V	ENSP00000360312:L141V	L	+	1	2	BSND	55245406	0.280000	0.24249	0.002000	0.10522	0.078000	0.17371	0.760000	0.26475	0.562000	0.29204	0.478000	0.44815	CTG		0.607	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		G	55472818	C	G	55472818	3	3	436	1	0	0	0	0	1	0	0	0	1531	796	28	3	431	3	BSND	1	55472818	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	1239128	55472818	193777803	6	24041											
TNNI3K	100526835	genome.wustl.edu	37	1	74835155	74835155	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:74835155A>T	ENST00000370899.3	+	18	1893	c.1856A>T	c.(1855-1857)cAt>cTt	p.H619L	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.H619L|TNNI3K_ENST00000370891.2_Missense_Mutation_p.H619L|TNNI3K_ENST00000326637.3_Missense_Mutation_p.H518L|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.H632L	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		CAGCTCAATCATCCCTGCGTA	0.478																																																0			1											238	206	217					1																	74835155		2203	4300	6503	74607743	SO:0001583	missense	51086					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1856A>T	1.37:g.74835155A>T	ENSP00000359936:p.His619Leu		74607743		Missense_Mutation	SNP	ENST00000370899.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.820151|4.820151	0.90873|0.90873	.|.	.|.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783|ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020|ENST00000526236;ENST00000525480	T;T;T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59;0.59;0.59|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84804|0.84804	0.5553|0.5553	H|H	0.95043|0.95043	3.615|3.615	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.69078|.	0.997;0.996;0.996;0.997|.	D;D;D;D|.	0.78314|.	0.933;0.918;0.918;0.991|.	D|D	0.89738|0.89738	0.3931|0.3931	10|5	0.87932|.	D|.	0|.	.|.	15.1862|15.1862	0.73002|0.73002	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	518;619;619;619|.	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3|.	TNI3K_HUMAN;.;.;.|.	L|F	619;619;619;619;518;42|65;38	ENSP00000359936:H619L;ENSP00000359932:H619L;ENSP00000450895:H619L;ENSP00000359928:H619L;ENSP00000322251:H518L;ENSP00000434975:H42L|.	ENSP00000322251:H518L|.	H|I	+|+	2|1	0|0	RP11-653A5.2;AC093158.1|AC093158.1	74607743|74607743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	8.799000|8.799000	0.91895|0.91895	1.982000|1.982000	0.57802|0.57802	0.459000|0.459000	0.35465|0.35465	CAT|ATC		0.478	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			T	74835155	A	T	74835155	3	4	436	1	0	0	0	0	1	0	0	0	16329	217	8	5	1970	5	TNNI3K	1	74835155	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09	19362337	74835155	174415466	7	24042											
ABCA4	24	genome.wustl.edu	37	1	94495004	94495004	+	Silent	SNP	G	G	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:94495004G>T	ENST00000370225.3	-	30	4622	c.4536C>A	c.(4534-4536)ccC>ccA	p.P1512P		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1512					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAGGTACCTGGGGGGGCGGGA	0.627																																																0			1											13	11	12					1																	94495004		2162	4211	6373	94267592	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4536C>A	1.37:g.94495004G>T			94267592	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.627	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94495004	G	T	94495004	2	4	436	1	0	0	0	0	0	0	0	1	34	1219	43	3		3	ABCA4	1	94495004	Silent	SNP	G	TCGA-61-1907-01A-01W-0639-09	19659849	94495004	154755617	8	24043											
DPYD	1806	genome.wustl.edu	37	1	98039475	98039475	+	Silent	SNP	G	G	T	rs140602333		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:98039475G>T	ENST00000370192.3	-	11	1280	c.1180C>A	c.(1180-1182)Cgg>Agg	p.R394R		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	394					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATAACCTTCCGTGGGGACAGG	0.383																																																0			1											102	93	96					1																	98039475		2203	4300	6503	97812063	SO:0001819	synonymous_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1180C>A	1.37:g.98039475G>T			97812063	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																				0.383	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		T	98039475	G	T	98039475	2	4	436	1	0	0	0	0	0	0	0	1	4745	1144	40	3		3	DPYD	1	98039475	Silent	SNP	G	TCGA-61-1907-01A-01W-0639-09	3544471	98039475	151211146	9	24044											
FRRS1	391059	genome.wustl.edu	37	1	100178020	100178020	+	Missense_Mutation	SNP	G	G	A	rs200193081		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:100178020G>A	ENST00000414213.1	-	13	1976	c.1375C>T	c.(1375-1377)Ctt>Ttt	p.L459F	FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.L459F			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	459	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGAGGCTGAAGAACTGCCAAA	0.408																																																0			1											98	94	95					1																	100178020		2203	4300	6503	99950608	SO:0001583	missense	391059			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1375C>T	1.37:g.100178020G>A	ENSP00000393884:p.Leu459Phe		99950608	A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37		.	.	.	.	.	.	.	.	.	.	G	7.687	0.690145	0.15039	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.62	4.71	0.59529	.	0.342816	0.27627	N	0.018530	T	0.31420	0.0796	L	0.41027	1.25	0.45403	D	0.998384	B	0.12013	0.005	B	0.17433	0.018	T	0.21759	-1.0236	9	0.41790	T	0.15	-22.1062	10.5441	0.45050	0.157:0.0:0.843:0.0	.	459	Q6ZNA5-2	.	F	459	.	ENSP00000287474:L459F	L	-	1	0	FRRS1	99950608	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	1.863000	0.39459	1.384000	0.46424	0.655000	0.94253	CTT		0.408	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		A	100178020	G	A	100178020	3	1	436	1	0	0	0	0	1	0	0	0	6060	942	33	2	525	2	FRRS1	1	100178020	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	2138545	100178020	149072601	10	24045											
OLFM3	118427	genome.wustl.edu	37	1	102290720	102290720	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:102290720G>C	ENST00000338858.5	-	4	513	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.Q77E|OLFM3_ENST00000370103.4_Missense_Mutation_p.Q152E|OLFM3_ENST00000359814.3_Missense_Mutation_p.Q172E			Q96PB7	NOE3_HUMAN	olfactomedin 3	172					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TCCTTGAACTGGGTGATTAAC	0.458																																																0			1											134	122	126					1																	102290720		2203	4300	6503	102063308	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.514C>G	1.37:g.102290720G>C	ENSP00000345192:p.Gln172Glu		102063308	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	G	18.86	3.714153	0.68730	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.88586	-2.39;-2.4;-0.78;0.42	5.91	5.91	0.95273	.	0.052092	0.85682	D	0.000000	D	0.85435	0.5696	M	0.68952	2.095	0.54753	D	0.999982	B;B	0.29037	0.049;0.231	B;B	0.22386	0.027;0.039	D	0.83795	0.0233	10	0.66056	D	0.02	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	152;172	Q5T3V6;Q96PB7	.;NOE3_HUMAN	E	23;152;172;77;172	ENSP00000359121:Q152E;ENSP00000345192:Q172E;ENSP00000443471:Q77E;ENSP00000352867:Q172E	ENSP00000345192:Q172E	Q	-	1	0	OLFM3	102063308	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.848000	0.99507	2.813000	0.96785	0.655000	0.94253	CAG		0.458	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			C	102290720	G	C	102290720	3	2	436	1	0	0	0	0	1	0	0	0	10854	1357	47	3	934	3	OLFM3	1	102290720	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	2112700	102290720	146959901	11	24046											
TSHB	7252	genome.wustl.edu	37	1	115576841	115576841	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:115576841C>T	ENST00000369517.1	+	2	410	c.410C>T	c.(409-411)tCt>tTt	p.S137F	TSHB_ENST00000256592.1_Missense_Mutation_p.S137F			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	137					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GTAGGATTTTCTGTCTAATAG	0.333																																																0			1											87	87	87					1																	115576841		2203	4299	6502	115378364	SO:0001583	missense	7252			BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"Endogenous ligands"	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.410C>T	1.37:g.115576841C>T	ENSP00000358530:p.Ser137Phe		115378364	B1AKP0|Q16163	Missense_Mutation	SNP	ENST00000369517.1	37	CCDS880.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205789	0.58234	.	.	ENSG00000134200	ENST00000256592;ENST00000369517	T;T	0.61510	0.1;0.1	5.67	5.67	0.87782	.	0.409823	0.27650	N	0.018428	T	0.32763	0.0840	N	0.24115	0.695	0.32899	D	0.512885	P	0.38195	0.622	B	0.39562	0.303	T	0.47484	-0.9114	10	0.87932	D	0	-4.0444	12.6216	0.56605	0.0:0.9205:0.0:0.0795	.	137	P01222	TSHB_HUMAN	F	137	ENSP00000256592:S137F;ENSP00000358530:S137F	ENSP00000256592:S137F	S	+	2	0	TSHB	115378364	0.970000	0.33590	0.997000	0.53966	0.782000	0.44232	2.155000	0.42301	2.665000	0.90641	0.591000	0.81541	TCT		0.333	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032833.2	NM_000549		T	115576841	C	T	115576841	3	4	436	1	0	0	0	0	1	0	0	0	16621	913	32	2	416	2	TSHB	1	115576841	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	13286121	115576841	133673780	12	24047											
IQGAP3	128239	genome.wustl.edu	37	1	156513971	156513971	+	Silent	SNP	C	C	T	rs200820791		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:156513971C>T	ENST00000361170.2	-	21	2443	c.2433G>A	c.(2431-2433)ctG>ctA	p.L811L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	811	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGACGCCTCAGGTATTGCC	0.587																																																0			1											126	111	116					1																	156513971		2203	4300	6503	154780595	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2433G>A	1.37:g.156513971C>T			154780595	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																				0.587	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		T	156513971	C	T	156513971	2	4	436	1	0	0	0	0	0	0	0	1	7816	813	29	2		2	IQGAP3	1	156513971	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09	40937130	156513971	92736650	13	24048											
HAPLN2	60484	genome.wustl.edu	37	1	156593711	156593711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:156593711C>A	ENST00000255039.1	+	4	605	c.198C>A	c.(196-198)taC>taA	p.Y66*		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	66	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCCAGCTACAAGGTGCGCT	0.687																																																0			1											14	14	14					1																	156593711		2200	4291	6491	154860335	SO:0001587	stop_gained	60484			AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.198C>A	1.37:g.156593711C>A	ENSP00000255039:p.Tyr66*		154860335	Q5T3J0	Nonsense_Mutation	SNP	ENST00000255039.1	37	CCDS1148.1	.	.	.	.	.	.	.	.	.	.	C	37	6.371469	0.97511	.	.	ENSG00000132702	ENST00000255039;ENST00000544775;ENST00000456112	.	.	.	4.11	3.19	0.36642	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.6006	14.0074	0.64473	0.0:0.9149:0.0:0.0851	.	.	.	.	X	66;39;66	.	ENSP00000255039:Y66X	Y	+	3	2	HAPLN2	154860335	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.416000	0.52707	0.508000	0.28173	-1.134000	0.01955	TAC		0.687	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		A	156593711	C	A	156593711	4	1	436	1	0	0	0	0	0	1	0	0	6955	489	17	3	204	3	HAPLN2	1	156593711	Nonsense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	79740	156593711	92656910	14	24049											
DUSP27	92235	genome.wustl.edu	37	1	167095052	167095052	+	Silent	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:167095052C>T	ENST00000361200.2	+	6	850	c.684C>T	c.(682-684)ggC>ggT	p.G228G	DUSP27_ENST00000443333.1_Silent_p.G228G|DUSP27_ENST00000271385.5_Silent_p.G228G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	228	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCGAAATGGGCATCAGCCGGT	0.488																																																0			1											83	71	75					1																	167095052		2203	4300	6503	165361676	SO:0001819	synonymous_variant	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.684C>T	1.37:g.167095052C>T			165361676	A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.488	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		T	167095052	C	T	167095052	2	4	436	1	0	0	0	0	0	0	0	1	4824	697	25	2		2	DUSP27	1	167095052	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09	10501341	167095052	82155569	15	24050											
OR13G1	441933	genome.wustl.edu	37	1	247836022	247836022	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr1:247836022C>T	ENST00000359688.2	-	1	343	c.322G>A	c.(322-324)Gag>Aag	p.E108K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAACCATCTCAGCTCCCAGA	0.463																																																0			1											89	73	79					1																	247836022		2203	4300	6503	245902645	SO:0001583	missense	441933			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.322G>A	1.37:g.247836022C>T	ENSP00000352717:p.Glu108Lys		245902645	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795309	0.70452	.	.	ENSG00000197437	ENST00000359688	T	0.00414	7.52	4.2	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.155196	0.29972	N	0.010736	T	0.01489	0.0048	M	0.93375	3.41	0.28096	N	0.931611	D	0.76494	0.999	D	0.72338	0.977	T	0.05903	-1.0857	10	0.87932	D	0	-25.9036	10.017	0.42020	0.0:0.8991:0.0:0.1009	.	108	Q8NGZ3	O13G1_HUMAN	K	108	ENSP00000352717:E108K	ENSP00000352717:E108K	E	-	1	0	OR13G1	245902645	0.058000	0.20735	0.039000	0.18376	0.945000	0.59286	1.856000	0.39389	1.114000	0.41781	0.563000	0.77884	GAG		0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		T	247836022	C	T	247836022	3	4	436	1	0	0	0	0	1	0	0	0	10942	835	29	2	605	2	OR13G1	1	247836022	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	80740970	247836022	1414599	16	24051											
SOCS5	9655	genome.wustl.edu	37	2	46985991	46985991	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr2:46985991C>G	ENST00000306503.5	+	2	494	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V	SOCS5_ENST00000394861.2_Missense_Mutation_p.L108V	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	108					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGGAACAAGACTTGCACGAAG	0.398																																																0			2											69	66	67					2																	46985991		2203	4300	6503	46839495	SO:0001583	missense	9655			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.322C>G	2.37:g.46985991C>G	ENSP00000305133:p.Leu108Val		46839495	Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509482	0.44660	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32753	1.44;1.44	5.39	5.39	0.77823	.	0.137987	0.48767	D	0.000179	T	0.21267	0.0512	L	0.29908	0.895	0.43007	D	0.994535	P	0.37955	0.612	B	0.32533	0.147	T	0.02893	-1.1097	10	0.41790	T	0.15	-20.5431	12.3015	0.54876	0.0:0.9224:0.0:0.0775	.	108	O75159	SOCS5_HUMAN	V	108	ENSP00000305133:L108V;ENSP00000378330:L108V	ENSP00000305133:L108V	L	+	1	0	SOCS5	46839495	1.000000	0.71417	0.945000	0.38365	0.988000	0.76386	3.549000	0.53681	2.801000	0.96364	0.650000	0.86243	CTT		0.398	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			G	46985991	C	G	46985991	3	3	436	1	0	0	0	0	1	0	0	0	14920	565	20	3	324	3	SOCS5	2	46985991	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09		46985991	196213382	17	24052											
LRRTM4	80059	genome.wustl.edu	37	2	77746454	77746454	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr2:77746454G>A	ENST00000409093.1	-	3	877	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	LRRTM4_ENST00000409911.1_Missense_Mutation_p.R182W|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R182W|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R181W|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R181W			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	181					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCAAGATTCCGACAGTCTTGA	0.413																																																0			2											62	60	61					2																	77746454		1847	4074	5921	77599962	SO:0001583	missense	80059			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.541C>T	2.37:g.77746454G>A	ENSP00000386357:p.Arg181Trp		77599962	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666997	0.47677	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	M	0.64567	1.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.72966	-0.4131	10	0.72032	D	0.01	.	18.2226	0.89906	0.0:0.0:1.0:0.0	.	182;181;181	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	W	182;181;181;181;182	ENSP00000387228:R182W;ENSP00000387297:R181W;ENSP00000386357:R181W;ENSP00000386236:R181W;ENSP00000386286:R182W	ENSP00000386236:R181W	R	-	1	2	LRRTM4	77599962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.672000	0.46850	2.648000	0.89879	0.563000	0.77884	CGG		0.413	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		A	77746454	G	A	77746454	3	1	436	1	0	0	0	0	1	0	0	0	9042	1057	37	1	1245	1	LRRTM4	2	77746454	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	30760463	77746454	165452919	18	24053											
DARS	1615	genome.wustl.edu	37	2	136670090	136670090	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr2:136670090C>A	ENST00000264161.4	-	13	1411	c.1196G>T	c.(1195-1197)aGa>aTa	p.R399I	DARS_ENST00000537273.1_Missense_Mutation_p.R299I	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	399					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATAGAAAGGTCTTACAGCCAA	0.294																																																0			2											65	75	72					2																	136670090		2203	4298	6501	136386560	SO:0001583	missense	1615			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1196G>T	2.37:g.136670090C>A	ENSP00000264161:p.Arg399Ile		136386560	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362683	0.95877	.	.	ENSG00000115866	ENST00000264161;ENST00000537273	T;T	0.80033	-1.33;-1.33	5.98	5.98	0.97165	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.94833	0.8331	H	0.99545	4.62	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.96486	0.9360	10	0.87932	D	0	-18.7454	20.4366	0.99092	0.0:1.0:0.0:0.0	.	399	P14868	SYDC_HUMAN	I	399;299	ENSP00000264161:R399I;ENSP00000444192:R299I	ENSP00000264161:R399I	R	-	2	0	DARS	136386560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.578000	0.82498	2.843000	0.97960	0.585000	0.79938	AGA		0.294	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		A	136670090	C	A	136670090	3	1	436	1	0	0	0	0	1	0	0	0	4241	913	32	3	325	3	DARS	2	136670090	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	58923636	136670090	106529283	19	24054											
KCNH7	90134	genome.wustl.edu	37	2	163256871	163256871	+	Silent	SNP	G	G	C	rs143736950		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr2:163256871G>C	ENST00000332142.5	-	10	2334	c.2235C>G	c.(2233-2235)gcC>gcG	p.A745A		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	745					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCCCCCGAAAGGCTTTGCAGT	0.478																																					GBM(196;1492 2208 17507 24132 45496)											0			2											129	132	131					2																	163256871		2203	4300	6503	162965117	SO:0001819	synonymous_variant	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2235C>G	2.37:g.163256871G>C			162965117	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	CCDS2219.1																																																																																				0.478	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		C	163256871	G	C	163256871	2	2	436	1	0	0	0	0	0	0	0	1	8037	987	35	3		3	KCNH7	2	163256871	Silent	SNP	G	TCGA-61-1907-01A-01W-0639-09	26586781	163256871	79942502	20	24055											
XIRP2	129446	genome.wustl.edu	37	2	168100110	168100110	+	Silent	SNP	C	C	T	rs76149079	byFrequency	TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr2:168100110C>T	ENST00000409195.1	+	9	2297	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F514F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F736F|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	561					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAATGTTTCGAAACTCAAC	0.368													C|||	18	0.00359425	0.0136	0	5008	,	,		19910	0		0	False		,,,				2504	0															0			2						C	,,,,	34,3672		0,34,1819	58	55	56		,,1542,,2208	2.2	1	2	dbSNP_132	56	0,8182		0,0,4091	no	intron,intron,coding-synonymous,intron,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	0,34,5910	TT,TC,CC		0.0,0.9174,0.286	,,,,	,,514/3328,,736/3550	168100110	34,11854	1853	4091	5944	167808356	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2208C>T	2.37:g.168100110C>T			167808356	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168100110	C	T	168100110	2	4	436	1	0	0	0	0	0	0	0	1	17430	883	31	1		1	XIRP2	2	168100110	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09	4843239	168100110	75099263	21	24056											
ITGA6	3655	genome.wustl.edu	37	2	173368904	173368904	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr2:173368904A>G	ENST00000264106.6	+	26	3520	c.3317A>G	c.(3316-3318)aAa>aGa	p.K1106R	AC093818.1_ENST00000450443.1_RNA|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Missense_Mutation_p.K1067R|ITGA6_ENST00000409532.1_3'UTR|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000264107.7_3'UTR			P23229	ITA6_HUMAN	integrin, alpha 6	1106					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CGAGAGATCAAAGATGAAAAG	0.403																																																0			2											52	48	49					2																	173368904		1850	4094	5944	173077150	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3317A>G	2.37:g.173368904A>G	ENSP00000264106:p.Lys1106Arg		173077150	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	A	9.082	0.999631	0.19121	.	.	ENSG00000091409	ENST00000264106;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.87	2.07	0.26955	.	0.597033	0.20229	N	0.096526	T	0.10078	0.0247	N	0.17474	0.49	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.21484	-1.0244	10	0.07990	T	0.79	.	8.317	0.32106	0.6852:0.2502:0.0645:0.0	.	1067	G5E9H1	.	R	1106;1067;1106;1062;234	ENSP00000264106:K1106R;ENSP00000386896:K1067R;ENSP00000406694:K1106R;ENSP00000394169:K1062R;ENSP00000388435:K234R	ENSP00000264106:K1106R	K	+	2	0	ITGA6	173077150	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.767000	0.47637	0.114000	0.18032	0.533000	0.62120	AAA		0.403	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				G	173368904	A	G	173368904	3	3	436	1	0	0	0	0	1	0	0	0	7880	14	1	4	3410	4	ITGA6	2	173368904	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09	5268794	173368904	69830469	22	24057											
PDE11A	50940	genome.wustl.edu	37	2	178936570	178936570	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr2:178936570G>T	ENST00000286063.6	-	1	912	c.595C>A	c.(595-597)Cat>Aat	p.H199N	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	199					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CGCTCATTATGCTTTTTCAGA	0.483									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							0			2											115	103	107					2																	178936570		2203	4300	6503	178644816	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.595C>A	2.37:g.178936570G>T	ENSP00000286063:p.His199Asn		178644816	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118425	0.37339	.	.	ENSG00000128655	ENST00000286063	T	0.68479	-0.33	5.28	4.37	0.52481	.	0.196939	0.52532	D	0.000074	T	0.56834	0.2012	L	0.50333	1.59	0.80722	D	1	B	0.31026	0.304	B	0.21151	0.033	T	0.55642	-0.8109	10	0.24483	T	0.36	.	14.3806	0.66908	0.0:0.0:0.852:0.148	.	199	Q9HCR9	PDE11_HUMAN	N	199	ENSP00000286063:H199N	ENSP00000286063:H199N	H	-	1	0	PDE11A	178644816	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.057000	0.64294	2.473000	0.83533	0.655000	0.94253	CAT		0.483	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			T	178936570	G	T	178936570	3	4	436	1	0	0	0	0	1	0	0	0	11631	1319	46	3	2286	3	PDE11A	2	178936570	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	5567666	178936570	64262803	23	24058											
TTN	7273	genome.wustl.edu	37	2	179579731	179579731	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr2:179579731C>T	ENST00000591111.1	-	88	25455	c.25231G>A	c.(25231-25233)Ggt>Agt	p.G8411S	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G8728S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7484S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12583	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGATGGAACCAACGCAAGTG	0.483																																																0			2											207	202	204					2																	179579731		2045	4199	6244	179287976	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25231G>A	2.37:g.179579731C>T	ENSP00000465570:p.Gly8411Ser		179287976	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	6.218	0.408304	0.11754	.	.	ENSG00000155657	ENST00000342992	T	0.40476	1.03	5.91	5.03	0.67393	Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38348	0.1037	L	0.39633	1.23	0.25521	N	0.987369	B	0.12630	0.006	B	0.17722	0.019	T	0.36480	-0.9746	9	0.87932	D	0	.	13.7901	0.63135	0.3945:0.6055:0.0:0.0	.	8411	Q8WZ42	TITIN_HUMAN	S	7484	ENSP00000343764:G7484S	ENSP00000343764:G7484S	G	-	1	0	TTN	179287976	0.000000	0.05858	0.022000	0.16811	0.025000	0.11179	0.099000	0.15210	1.499000	0.48617	0.655000	0.94253	GGT		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179579731	C	T	179579731	3	4	436	1	0	0	0	0	1	0	0	0	16735	594	21	2	78439	2	TTN	2	179579731	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	643161	179579731	63619642	24	24059											
CERKL	375298	genome.wustl.edu	37	2	182413527	182413527	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr2:182413527A>C	ENST00000339098.5	-	8	1030	c.1031T>G	c.(1030-1032)tTt>tGt	p.F344C	CERKL_ENST00000410087.3_Missense_Mutation_p.F318C|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Missense_Mutation_p.F249C|CERKL_ENST00000409440.3_Missense_Mutation_p.F300C|CERKL_ENST00000374969.2_Missense_Mutation_p.F205C			Q49MI3	CERKL_HUMAN	ceramide kinase-like	344					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGAGAACCCAAAGCGAAGAAG	0.458																																																0			2											74	77	76					2																	182413527		2203	4300	6503	182121772	SO:0001583	missense	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1031T>G	2.37:g.182413527A>C	ENSP00000341159:p.Phe344Cys		182121772	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334444	0.60853	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.62	4.4	0.53042	.	0.054966	0.64402	D	0.000001	T	0.40015	0.1100	L	0.59967	1.855	0.53005	D	0.999967	P;P;D;P;P	0.89917	0.593;0.588;1.0;0.716;0.779	B;B;D;B;B	0.85130	0.267;0.302;0.997;0.275;0.267	T	0.08953	-1.0697	10	0.37606	T	0.19	.	12.3989	0.55402	0.8597:0.1403:0.0:0.0	.	300;205;249;318;344	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	C	318;300;205;344;249	ENSP00000386725:F318C;ENSP00000387080:F300C;ENSP00000364108:F205C;ENSP00000341159:F344C;ENSP00000364109:F249C	ENSP00000341159:F344C	F	-	2	0	CERKL	182121772	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.175000	0.77632	2.136000	0.66102	0.533000	0.62120	TTT		0.458	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			C	182413527	A	C	182413527	3	2	436	1	0	0	0	0	1	0	0	0	3268	14	1	5	673	5	CERKL	2	182413527	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09	2833796	182413527	60785846	25	24060											
STT3B	201595	genome.wustl.edu	37	3	31674583	31674583	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr3:31674583G>C	ENST00000295770.2	+	15	2553	c.2344G>C	c.(2344-2346)Gat>Cat	p.D782H		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	782					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GGAGACATTAGATCACAAACC	0.378																																																0			3											80	78	79					3																	31674583		2203	4300	6503	31649587	SO:0001583	missense	201595			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.2344G>C	3.37:g.31674583G>C	ENSP00000295770:p.Asp782His		31649587	Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938611	0.52972	.	.	ENSG00000163527	ENST00000295770	D	0.93133	-3.17	5.48	3.67	0.42095	.	0.208186	0.48286	D	0.000183	D	0.87881	0.6289	N	0.25647	0.755	0.41812	D	0.989978	B	0.29037	0.231	B	0.29942	0.109	D	0.86332	0.1699	10	0.52906	T	0.07	-7.1641	11.6298	0.51166	0.1436:0.0:0.8564:0.0	.	782	Q8TCJ2	STT3B_HUMAN	H	782	ENSP00000295770:D782H	ENSP00000295770:D782H	D	+	1	0	STT3B	31649587	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.662000	0.74426	1.458000	0.47871	0.655000	0.94253	GAT		0.378	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		C	31674583	G	C	31674583	3	2	436	1	0	0	0	0	1	0	0	0	15336	942	33	3	2402	3	STT3B	3	31674583	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09		31674583	166347847	26	24061											
SCN11A	11280	genome.wustl.edu	37	3	38913741	38913741	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr3:38913741G>C	ENST00000302328.3	-	20	3636	c.3438C>G	c.(3436-3438)ttC>ttG	p.F1146L	SCN11A_ENST00000450244.1_Missense_Mutation_p.F1146L|SCN11A_ENST00000444237.2_Missense_Mutation_p.F1146L|SCN11A_ENST00000456224.3_Missense_Mutation_p.F1108L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1146					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTAGAGTCCGGAAGGACTTCA	0.478																																																0			3											133	129	130					3																	38913741		2203	4300	6503	38888745	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3438C>G	3.37:g.38913741G>C	ENSP00000307599:p.Phe1146Leu		38888745	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	2.987	-0.209065	0.06140	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97924	-4.61;-4.61;-4.61;-4.61	5.54	1.12	0.20585	Ion transport (1);	0.245560	0.41097	N	0.000944	D	0.84853	0.5564	N	0.00608	-1.33	0.36284	D	0.855942	B	0.06786	0.001	B	0.10450	0.005	T	0.80714	-0.1259	10	0.02654	T	1	.	5.523	0.16943	0.2361:0.2873:0.4766:0.0	.	1146	Q9UI33	SCNBA_HUMAN	L	1146;1146;1108;1146	ENSP00000307599:F1146L;ENSP00000400945:F1146L;ENSP00000416757:F1108L;ENSP00000408028:F1146L	ENSP00000307599:F1146L	F	-	3	2	SCN11A	38888745	0.221000	0.23642	0.995000	0.50966	0.011000	0.07611	-0.394000	0.07296	0.661000	0.30985	0.561000	0.74099	TTC		0.478	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		C	38913741	G	C	38913741	3	2	436	1	0	0	0	0	1	0	0	0	13916	1165	41	3	1965	3	SCN11A	3	38913741	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	7239158	38913741	159108689	27	24062											
LARS2	23395	genome.wustl.edu	37	3	45559558	45559558	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr3:45559558C>G	ENST00000415258.1	+	17	2349	c.2208C>G	c.(2206-2208)atC>atG	p.I736M	LARS2_ENST00000265537.3_Missense_Mutation_p.I736M|LARS2_ENST00000414984.1_Missense_Mutation_p.I693M|LARS2_ENST00000467936.1_3'UTR			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	736					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACTCCGTCATCTCTCAGGTCA	0.542																																																0			3											43	41	42					3																	45559558		2203	4300	6503	45534562	SO:0001583	missense	23395			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2208C>G	3.37:g.45559558C>G	ENSP00000408576:p.Ile736Met		45534562		Missense_Mutation	SNP	ENST00000415258.1	37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847846	0.51164	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.17691	2.26;2.26;2.26	5.45	4.55	0.56014	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.175195	0.50627	D	0.000119	T	0.36880	0.0983	M	0.83223	2.63	0.49213	D	0.999769	D;D	0.58268	0.982;0.982	P;P	0.62740	0.906;0.906	T	0.23154	-1.0196	10	0.87932	D	0	-16.8585	4.9605	0.14063	0.1571:0.6165:0.1427:0.0837	.	693;736	E9PHM2;Q15031	.;SYLM_HUMAN	M	736;736;693	ENSP00000265537:I736M;ENSP00000408576:I736M;ENSP00000412893:I693M	ENSP00000265537:I736M	I	+	3	3	LARS2	45534562	0.828000	0.29307	0.915000	0.36163	0.801000	0.45260	1.042000	0.30303	1.229000	0.43630	0.655000	0.94253	ATC		0.542	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		G	45559558	C	G	45559558	3	3	436	1	0	0	0	0	1	0	0	0	8635	903	32	3	2270	3	LARS2	3	45559558	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	6645817	45559558	152462872	28	24063											
MAP4	4134	genome.wustl.edu	37	3	47957507	47957507	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr3:47957507C>A	ENST00000360240.6	-	7	2328	c.1810G>T	c.(1810-1812)Gat>Tat	p.D604Y	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.D621Y|MAP4_ENST00000395734.3_Missense_Mutation_p.D604Y	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	604					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AAATGGGAATCCTCACTTATT	0.438																																																0			3											223	221	222					3																	47957507		2203	4300	6503	47932511	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1810G>T	3.37:g.47957507C>A	ENSP00000353375:p.Asp604Tyr		47932511	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.727199	0.30593	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.14022	2.59;2.54;2.6	3.69	1.89	0.25635	.	.	.	.	.	T	0.27489	0.0675	L	0.56769	1.78	0.21604	N	0.999622	D;D;D	0.89917	1.0;0.995;0.991	D;D;P	0.69824	0.966;0.919;0.885	T	0.05716	-1.0868	9	0.72032	D	0.01	-1.1447	5.7703	0.18249	0.0:0.7571:0.0:0.2429	.	581;604;604	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	Y	604;621;604	ENSP00000379083:D604Y;ENSP00000407602:D621Y;ENSP00000353375:D604Y	ENSP00000353375:D604Y	D	-	1	0	MAP4	47932511	0.015000	0.18098	0.267000	0.24556	0.866000	0.49608	1.685000	0.37659	0.538000	0.28769	0.563000	0.77884	GAT		0.438	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		A	47957507	C	A	47957507	3	1	436	1	0	0	0	0	1	0	0	0	9258	855	30	3	3059	3	MAP4	3	47957507	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	2397949	47957507	150064923	29	24064											
SLC25A20	788	genome.wustl.edu	37	3	48929501	48929501	+	Missense_Mutation	SNP	C	C	T	rs371250509		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr3:48929501C>T	ENST00000319017.4	-	2	308	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	SLC25A20_ENST00000544097.1_5'UTR|SLC25A20_ENST00000430379.1_Missense_Mutation_p.R37Q	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	37					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.R37L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TGTCTGCAGTCGGACCTGAAA	0.498																																																1	Substitution - Missense(1)	kidney(1)	3						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	94	90	92		110	4.8	1	3		92	0,8600		0,0,4300	no	missense	SLC25A20	NM_000387.5	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	37/302	48929501	1,13005	2203	4300	6503	48904505	SO:0001583	missense	788			Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"Solute carriers"	1421	protein-coding gene	gene with protein product	"carnitine-acylcarnitine carrier", "carnitine/acylcarnitine translocase"	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.110G>A	3.37:g.48929501C>T	ENSP00000326305:p.Arg37Gln		48904505	B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	CCDS2779.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154828	0.94686	2.27E-4	0.0	ENSG00000178537	ENST00000430379;ENST00000319017	D;D	0.83591	-1.74;-1.74	4.76	4.76	0.60689	Mitochondrial carrier domain (2);	0.066915	0.64402	D	0.000015	D	0.91439	0.7298	M	0.84326	2.69	0.80722	D	1	D;D	0.71674	0.998;0.987	D;P	0.76575	0.988;0.73	D	0.92736	0.6204	10	0.87932	D	0	-15.5576	16.7083	0.85378	0.0:1.0:0.0:0.0	.	37;37	C9JPE1;O43772	.;MCAT_HUMAN	Q	37	ENSP00000388986:R37Q;ENSP00000326305:R37Q	ENSP00000326305:R37Q	R	-	2	0	SLC25A20	48904505	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.623000	0.74238	2.477000	0.83638	0.455000	0.32223	CGA		0.498	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		T	48929501	C	T	48929501	3	4	436	1	0	0	0	0	1	0	0	0	14486	884	31	1	827	1	SLC25A20	3	48929501	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	971994	48929501	149092929	30	24065											
PLCH1	23007	genome.wustl.edu	37	3	155215196	155215196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr3:155215196G>A	ENST00000340059.7	-	14	1770	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R591*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R573*|PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R573*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R591*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R573*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	591					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTTTCCTTCGGCGACCCAAT	0.468																																																0			3											108	99	102					3																	155215196		2203	4300	6503	156697890	SO:0001587	stop_gained	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1771C>T	3.37:g.155215196G>A	ENSP00000345988:p.Arg591*		156697890	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	39	7.653879	0.98412	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.76	3.72	0.42706	.	0.193168	0.45606	D	0.000353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0241	0.80528	0.0:0.0:0.728:0.272	.	.	.	.	X	591;573;591;591;573;573	.	ENSP00000335469:R573X	R	-	1	2	PLCH1	156697890	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.232000	0.43018	1.360000	0.45960	0.655000	0.94253	CGA		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		A	155215196	G	A	155215196	4	1	436	1	0	0	0	0	0	1	0	0	12037	1124	39	1	3365	1	PLCH1	3	155215196	Nonsense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	106285695	155215196	42807234	31	24066											
GNB4	59345	genome.wustl.edu	37	3	179134325	179134325	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr3:179134325G>T	ENST00000232564.3	-	5	509	c.223C>A	c.(223-225)Caa>Aaa	p.Q75K	GNB4_ENST00000465153.1_5'Flank|GNB4_ENST00000468623.1_Missense_Mutation_p.Q75K	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	75					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			TTTCCATCTTGAGAAGCACTG	0.303																																					Melanoma(105;1405 1491 7265 20440 33721)											0			3											47	51	50					3																	179134325		2203	4281	6484	180617019	SO:0001583	missense	59345			AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"WD repeat domain containing"	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.223C>A	3.37:g.179134325G>T	ENSP00000232564:p.Gln75Lys		180617019	B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460997	0.84317	.	.	ENSG00000114450	ENST00000232564;ENST00000468623;ENST00000497513	T;T;T	0.59083	0.29;0.29;0.29	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.105582	0.64402	D	0.000002	T	0.51839	0.1698	L	0.28344	0.845	0.80722	D	1	P	0.48016	0.904	B	0.43728	0.429	T	0.57159	-0.7859	10	0.59425	D	0.04	-16.7921	19.2636	0.93977	0.0:0.0:1.0:0.0	.	75	Q9HAV0	GBB4_HUMAN	K	75	ENSP00000232564:Q75K;ENSP00000419693:Q75K;ENSP00000420606:Q75K	ENSP00000232564:Q75K	Q	-	1	0	GNB4	180617019	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.674000	0.98633	2.550000	0.86006	0.655000	0.94253	CAA		0.303	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		T	179134325	G	T	179134325	3	4	436	1	0	0	0	0	1	0	0	0	6520	1299	45	3	823	3	GNB4	3	179134325	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	23919129	179134325	18888105	32	24067											
UBE2D3	7323	genome.wustl.edu	37	4	103730993	103730993	+	Missense_Mutation	SNP	C	C	T	rs563106506		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr4:103730993C>T	ENST00000453744.2	-	3	557	c.44G>A	c.(43-45)cGt>cAt	p.R15H	UBE2D3_ENST00000504211.1_De_novo_Start_OutOfFrame|UBE2D3_ENST00000394803.5_Missense_Mutation_p.R15H|UBE2D3_ENST00000349311.8_Missense_Mutation_p.R15H|UBE2D3_ENST00000357194.6_Missense_Mutation_p.R17H|UBE2D3_ENST00000394804.2_Missense_Mutation_p.R15H|UBE2D3_ENST00000321805.7_Missense_Mutation_p.R15H|UBE2D3_ENST00000394801.4_Missense_Mutation_p.R15H|UBE2D3_ENST00000502404.1_De_novo_Start_OutOfFrame|UBE2D3_ENST00000343106.5_Missense_Mutation_p.R15H|UBE2D3_ENST00000338145.3_Missense_Mutation_p.R15H|UBE2D3_ENST00000507845.1_De_novo_Start_OutOfFrame|UBE2D3_ENST00000505207.1_De_novo_Start_OutOfFrame|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000350435.7_Missense_Mutation_p.R9H	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	15					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TGGAGGGTCACGGGCCAAATC	0.388													C|||	1	0.000199681	8e-04	0	5008	,	,		16909	0		0	False		,,,				2504	0															0			4											113	114	114					4																	103730993		2203	4300	6503	103950104	SO:0001583	missense	7323			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"Ubiquitin-conjugating enzymes E2"	12476	protein-coding gene	gene with protein product		602963	"ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.44G>A	4.37:g.103730993C>T	ENSP00000396901:p.Arg15His		103950104	A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	ENST00000453744.2	37	CCDS3660.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996165	0.74703	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000357194;ENST00000508238;ENST00000502690;ENST00000508249	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.58	5.58	0.84498	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.048442	0.85682	D	0.000000	T	0.51244	0.1663	M	0.77103	2.36	0.80722	D	1	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.20184	0.004;0.028;0.003	T	0.52328	-0.8590	10	0.87932	D	0	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	17;15;15	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	H	15;15;15;15;15;15;9;15;15;17;15;15;15	ENSP00000396901:R15H;ENSP00000378280:R15H;ENSP00000378282:R15H;ENSP00000378283:R15H;ENSP00000345285:R15H;ENSP00000318494:R15H;ENSP00000337262:R9H;ENSP00000337208:R15H;ENSP00000344069:R15H;ENSP00000349722:R17H;ENSP00000423487:R15H;ENSP00000425762:R15H;ENSP00000421310:R15H	ENSP00000318494:R15H	R	-	2	0	UBE2D3	103950104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.630000	0.89119	0.650000	0.86243	CGT		0.388	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893		T	103730993	C	T	103730993	3	4	436	1	0	0	0	0	1	0	0	0	16850	536	19	1	476	1	UBE2D3	4	103730993	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09		103730993	87423283	33	24068											
ELOVL6	79071	genome.wustl.edu	37	4	110972637	110972637	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr4:110972637A>G	ENST00000394607.3	-	5	818	c.655T>C	c.(655-657)Tgg>Cgg	p.W219R	ELOVL6_ENST00000302274.3_Missense_Mutation_p.W219R			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	219					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TGCTGCATCCAGCAGAAGACC	0.498																																																0			4											128	112	117					4																	110972637		2203	4300	6503	111192086	SO:0001583	missense	79071			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.655T>C	4.37:g.110972637A>G	ENSP00000378105:p.Trp219Arg		111192086	Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035034	0.54896	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.21361	2.01;2.01	5.97	4.77	0.60923	.	0.050992	0.85682	N	0.000000	T	0.37919	0.1021	M	0.83774	2.66	0.80722	D	1	B	0.26935	0.164	B	0.41412	0.356	T	0.15263	-1.0443	10	0.36615	T	0.2	-9.9727	12.5677	0.56318	0.8753:0.0:0.0:0.1247	.	219	Q9H5J4	ELOV6_HUMAN	R	219	ENSP00000378105:W219R;ENSP00000304736:W219R	ENSP00000304736:W219R	W	-	1	0	ELOVL6	111192086	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.281000	0.95811	1.054000	0.40438	-0.336000	0.08194	TGG		0.498	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		G	110972637	A	G	110972637	3	3	436	1	0	0	0	0	1	0	0	0	5078	188	7	4	146	4	ELOVL6	4	110972637	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09	7241644	110972637	80181639	34	24069											
TRIML1	339976	genome.wustl.edu	37	4	189068431	189068431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr4:189068431C>T	ENST00000332517.3	+	6	1452	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	438	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGCTTCTTTCCAAGAGGCCCT	0.532																																					Melanoma(31;213 1036 16579 23968 32372)											0			4											88	88	88					4																	189068431		2203	4300	6503	189305425	SO:0001587	stop_gained	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1312C>T	4.37:g.189068431C>T	ENSP00000327738:p.Gln438*		189305425	Q96BE5	Nonsense_Mutation	SNP	ENST00000332517.3	37	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	15.33	2.800159	0.50208	.	.	ENSG00000184108	ENST00000332517	.	.	.	4.92	1.11	0.20524	.	0.553916	0.16693	N	0.203476	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.043	8.8048	0.34932	0.2761:0.3197:0.4042:0.0	.	.	.	.	X	438	.	ENSP00000327738:Q438X	Q	+	1	0	TRIML1	189305425	0.000000	0.05858	0.984000	0.44739	0.118000	0.20060	-0.091000	0.11146	0.066000	0.16515	0.552000	0.68991	CAA		0.532	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		T	189068431	C	T	189068431	4	4	436	1	0	0	0	0	0	1	0	0	16550	595	21	2	1334	2	TRIML1	4	189068431	Nonsense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	78095794	189068431	2085845	35	24070											
IRX2	153572	genome.wustl.edu	37	5	2749663	2749663	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr5:2749663G>T	ENST00000382611.6	-	2	736	c.488C>A	c.(487-489)aCc>aAc	p.T163N	IRX2_ENST00000302057.5_Missense_Mutation_p.T163N|C5orf38_ENST00000515640.1_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	163					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGCGAACCAGGTGGAGACCTG	0.602																																																0			5											174	148	157					5																	2749663		2203	4300	6503	2802663	SO:0001583	missense	153572			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.488C>A	5.37:g.2749663G>T	ENSP00000372056:p.Thr163Asn		2802663	Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953648	0.92660	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.89875	-2.58;-2.58;-2.58	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87042	0.6079	N	0.03253	-0.375	0.80722	D	1	D	0.58970	0.984	D	0.72982	0.979	D	0.88722	0.3230	10	0.33141	T	0.24	-29.4175	17.9697	0.89110	0.0:0.0:1.0:0.0	.	163	Q9BZI1	IRX2_HUMAN	N	163;163;70	ENSP00000372056:T163N;ENSP00000307006:T163N;ENSP00000426151:T70N	ENSP00000307006:T163N	T	-	2	0	IRX2	2802663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.393000	0.97256	2.239000	0.73571	0.655000	0.94253	ACC		0.602	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			T	2749663	G	T	2749663	3	4	436	1	0	0	0	0	1	0	0	0	7844	1261	44	3	939	3	IRX2	5	2749663	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09		2749663	178165597	36	24071											
SKIV2L2	23517	genome.wustl.edu	37	5	54683921	54683921	+	Silent	SNP	A	A	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr5:54683921A>G	ENST00000230640.5	+	19	2426	c.2172A>G	c.(2170-2172)ggA>ggG	p.G724G	SKIV2L2_ENST00000545714.1_Silent_p.G623G	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	724					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGAGAAAGGAGAGATGCAGG	0.373																																					Melanoma(2;92 134 23744 29976 33782)											0			5											97	99	98					5																	54683921		2203	4300	6503	54719678	SO:0001819	synonymous_variant	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2172A>G	5.37:g.54683921A>G			54719678	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																				0.373	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			G	54683921	A	G	54683921	2	3	436	1	0	0	0	0	0	0	0	1	14363	291	11	4		4	SKIV2L2	5	54683921	Silent	SNP	A	TCGA-61-1907-01A-01W-0639-09	51934258	54683921	126231339	37	24072											
IL6ST	3572	genome.wustl.edu	37	5	55253093	55253093	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr5:55253093A>G	ENST00000381298.2	-	9	1312	c.1000T>C	c.(1000-1002)Tat>Cat	p.Y334H	IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.Y334H|IL6ST_ENST00000502326.3_Missense_Mutation_p.Y334H|IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.Y334H	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	334	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTATTTTATACCAGAAACTT	0.279			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0			5											84	91	88					5																	55253093		2203	4299	6502	55288850	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1000T>C	5.37:g.55253093A>G	ENSP00000370698:p.Tyr334His		55288850	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591859	0.66219	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.41065	1.01;1.01;1.01	5.15	5.15	0.70609	Fibronectin, type III (3);	0.532611	0.19941	N	0.102646	T	0.52240	0.1722	M	0.63428	1.95	0.80722	D	1	D;D;D	0.62365	0.991;0.988;0.991	P;P;P	0.57679	0.798;0.825;0.798	T	0.50898	-0.8773	10	0.39692	T	0.17	.	8.7444	0.34578	0.7319:0.0:0.0:0.2681	.	334;334;334	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	H	334	ENSP00000370698:Y334H;ENSP00000338799:Y334H;ENSP00000370694:Y334H	ENSP00000338799:Y334H	Y	-	1	0	IL6ST	55288850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.089000	0.50183	2.049000	0.60858	0.477000	0.44152	TAT		0.279	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		G	55253093	A	G	55253093	3	3	436	1	0	0	0	0	1	0	0	0	7703	391	14	4	1792	4	IL6ST	5	55253093	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09	569172	55253093	125662167	38	24073											
WWC1	23286	genome.wustl.edu	37	5	167826539	167826539	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr5:167826539A>C	ENST00000265293.4	+	5	1059	c.557A>C	c.(556-558)cAg>cCg	p.Q186P	WWC1_ENST00000521089.1_Missense_Mutation_p.Q186P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	186					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CACGAGCTGCAGTTCAAAGAG	0.587																																																0			5											102	90	94					5																	167826539		2203	4300	6503	167759117	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.557A>C	5.37:g.167826539A>C	ENSP00000265293:p.Gln186Pro		167759117	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080831	0.76528	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.05786	3.39;3.39	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.16727	0.0402	L	0.60455	1.87	0.58432	D	0.999995	D;D;D	0.65815	0.979;0.995;0.993	P;P;P	0.58266	0.78;0.836;0.756	T	0.00520	-1.1692	10	0.42905	T	0.14	.	12.8954	0.58095	1.0:0.0:0.0:0.0	.	186;92;186	Q8IX03-2;B3KX05;Q8IX03	.;.;KIBRA_HUMAN	P	186	ENSP00000265293:Q186P;ENSP00000427772:Q186P	ENSP00000265293:Q186P	Q	+	2	0	WWC1	167759117	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.783000	0.55409	2.027000	0.59764	0.460000	0.39030	CAG		0.587	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		C	167826539	A	C	167826539	3	2	436	1	0	0	0	0	1	0	0	0	17411	188	7	5	575	5	WWC1	5	167826539	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09	112573446	167826539	13088721	39	24074											
RPP21	79897	genome.wustl.edu	37	6	30314223	30314223	+	Missense_Mutation	SNP	C	C	G	rs539399498		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr6:30314223C>G	ENST00000442966.2	+	4	269	c.256C>G	c.(256-258)Cgc>Ggc	p.R86G	RPP21_ENST00000428040.2_Missense_Mutation_p.R109G|RPP21_ENST00000466327.1_3'UTR|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R347G|RPP21_ENST00000436442.2_Missense_Mutation_p.R86G|RPP21_ENST00000433076.2_Missense_Mutation_p.R94G			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	86					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						CAGGGGACAGCGCTGGACCGT	0.562																																																0			6											74	71	72					6																	30314223		2203	4300	6503	30422202	SO:0001583	missense	79897			AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.256C>G	6.37:g.30314223C>G	ENSP00000403833:p.Arg86Gly		30422202	A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Missense_Mutation	SNP	ENST00000442966.2	37	CCDS4679.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156559	0.78114	.	.	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370;ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040;ENST00000436442	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.87	5.01	0.66863	.	0.246350	0.40908	D	0.000996	T	0.28732	0.0712	M	0.65975	2.015	0.45899	D	0.998741	P;B;B;B	0.35226	0.491;0.017;0.059;0.132	B;B;B;B	0.34590	0.186;0.011;0.069;0.05	T	0.31194	-0.9952	10	0.87932	D	0	-12.0729	11.4778	0.50308	0.0:0.917:0.0:0.083	.	349;86;86;109	F5H2V3;Q9H633-3;Q9H633;Q9H633-2	.;.;RPP21_HUMAN;.	G	349;347;94;86;109;86	ENSP00000424048:R347G;ENSP00000409799:R94G;ENSP00000403833:R86G;ENSP00000394320:R109G;ENSP00000397778:R86G	ENSP00000394320:R109G	R	+	1	0	RPP21;TRIM39-RPP21;TRIM39	30422202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.534000	0.45676	1.626000	0.50381	0.655000	0.94253	CGC		0.562	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		G	30314223	C	G	30314223	3	3	436	1	0	0	0	0	1	0	0	0	13613	768	27	3	270	3	RPP21	6	30314223	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09		30314223	140800844	40	24075											
KIAA1949	170954	genome.wustl.edu	37	6	30653319	30653319	+	Silent	SNP	G	G	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr6:30653319G>T	ENST00000274853.3	-	1	2353	c.477C>A	c.(475-477)gcC>gcA	p.A159A	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Silent_p.A159A|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	159						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCAACTCTTGGGCTCCCCCTA	0.607																																																0			6											146	162	157					6																	30653319		1210	2511	3721	30761298	SO:0001819	synonymous_variant	170954			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.477C>A	6.37:g.30653319G>T			30761298	A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	ENST00000274853.3	37	CCDS43444.1																																																																																				0.607	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		T	30653319	G	T	30653319	2	4	436	1	0	0	0	0	0	0	0	1	8263	1219	43	3		3	KIAA1949	6	30653319	Silent	SNP	G	TCGA-61-1907-01A-01W-0639-09	339096	30653319	140461748	41	24076											
CNPY3	10695	genome.wustl.edu	37	6	42902304	42902304	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr6:42902304C>G	ENST00000372836.4	+	2	614	c.243C>G	c.(241-243)gaC>gaG	p.D81E	CNPY3_ENST00000394142.3_Intron	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	81	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCATCCTGGACCAGAAGGCCT	0.557																																																0			6											116	97	104					6																	42902304		2203	4300	6503	43010282	SO:0001583	missense	10695			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"Trinucleotide (CAG) repeat containing"	11968	protein-coding gene	gene with protein product		610774	"trinucleotide repeat containing 5", "canopy 3 homolog (zebrafish)"	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.243C>G	6.37:g.42902304C>G	ENSP00000361926:p.Asp81Glu		43010282	O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	ENST00000372836.4	37	CCDS4875.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587690	0.66105	.	.	ENSG00000137161	ENST00000372836	T	0.34072	1.38	4.68	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14699	-1.0463	10	0.51188	T	0.08	-34.4737	6.8603	0.24064	0.0:0.6963:0.0:0.3037	.	81	Q9BT09	CNPY3_HUMAN	E	81	ENSP00000361926:D81E	ENSP00000361926:D81E	D	+	3	2	CNPY3	43010282	0.998000	0.40836	0.999000	0.59377	0.971000	0.66376	0.445000	0.21677	0.906000	0.36621	0.650000	0.86243	GAC		0.557	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		G	42902304	C	G	42902304	3	3	436	1	0	0	0	0	1	0	0	0	3629	506	18	3	249	3	CNPY3	6	42902304	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	12248985	42902304	128212763	42	24077											
PKHD1	5314	genome.wustl.edu	37	6	51900403	51900403	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr6:51900403T>G	ENST00000371117.3	-	28	3489	c.3214A>C	c.(3214-3216)Aaa>Caa	p.K1072Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.K1072Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1072	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTGGAACTTTGCACTGAATT	0.413																																																0			6											145	131	136					6																	51900403		2203	4300	6503	52008362	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3214A>C	6.37:g.51900403T>G	ENSP00000360158:p.Lys1072Gln		52008362	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.146793	0.37923	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.75938	-0.98;-0.98	5.69	3.27	0.37495	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.905414	0.09704	N	0.766612	T	0.47746	0.1462	M	0.62723	1.935	0.23391	N	0.997772	B;B	0.25390	0.051;0.125	B;B	0.25614	0.027;0.062	T	0.41142	-0.9525	10	0.30854	T	0.27	.	3.3112	0.07017	0.1311:0.0736:0.1579:0.6374	.	1072;1072	P08F94-2;P08F94	.;PKHD1_HUMAN	Q	1072	ENSP00000360158:K1072Q;ENSP00000341097:K1072Q	ENSP00000341097:K1072Q	K	-	1	0	PKHD1	52008362	0.985000	0.35326	0.860000	0.33809	0.902000	0.53008	0.642000	0.24735	0.416000	0.25844	0.528000	0.53228	AAA		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51900403	T	G	51900403	3	3	436	1	0	0	0	0	1	0	0	0	11971	1821	63	5	9209	5	PKHD1	6	51900403	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	8998099	51900403	119214664	43	24078											
ZNF451	26036	genome.wustl.edu	37	6	57013069	57013069	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr6:57013069T>C	ENST00000370706.4	+	10	2430	c.2186T>C	c.(2185-2187)aTc>aCc	p.I729T	RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.I729T|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.I729T	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAGAGTTACATCTGTAAAGTC	0.378																																																0			6											46	44	45					6																	57013069		2203	4300	6503	57121028	SO:0001583	missense	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2186T>C	6.37:g.57013069T>C	ENSP00000359740:p.Ile729Thr		57121028	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	T	3.596	-0.082600	0.07141	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.17213	2.29;2.31;2.29	5.16	3.91	0.45181	.	0.758370	0.13031	N	0.419339	T	0.04092	0.0114	L	0.40543	1.245	0.58432	D	0.999997	B;B;B;B	0.30973	0.302;0.242;0.224;0.116	B;B;B;B	0.21708	0.036;0.022;0.034;0.022	T	0.30504	-0.9976	10	0.14656	T	0.56	-0.9953	5.0019	0.14268	0.0:0.1539:0.1604:0.6857	.	729;729;729;729	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	T	729	ENSP00000359740:I729T;ENSP00000350083:I729T;ENSP00000421645:I729T	ENSP00000350083:I729T	I	+	2	0	ZNF451	57121028	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.177000	0.16801	2.059000	0.61396	0.455000	0.32223	ATC		0.378	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		C	57013069	T	C	57013069	3	2	436	1	0	0	0	0	1	0	0	0	17922	1435	50	4	2224	4	ZNF451	6	57013069	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	5112666	57013069	114101998	44	24079											
THEMIS	387357	genome.wustl.edu	37	6	128134406	128134406	+	Silent	SNP	C	C	T	rs141905910		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr6:128134406C>T	ENST00000368248.2	-	4	1528	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	THEMIS_ENST00000368250.1_Silent_p.K381K|THEMIS_ENST00000543064.1_Silent_p.K460K|THEMIS_ENST00000537166.1_Silent_p.K425K	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	460	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGACAGACACCTTCACATTGA	0.458																																																0			6											84	85	85					6																	128134406		2203	4300	6503	128176099	SO:0001819	synonymous_variant	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1380G>A	6.37:g.128134406C>T			128176099	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	CCDS34534.1																																																																																				0.458	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		T	128134406	C	T	128134406	2	4	436	1	0	0	0	0	0	0	0	1	15860	680	24	2		2	THEMIS	6	128134406	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09	71121337	128134406	42980661	45	24080											
LAMA2	3908	genome.wustl.edu	37	6	129766963	129766971	+	Splice_Site	DEL	TTCTGTAAG	TTCTGTAAG	-	rs150730793	byFrequency	TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	TTCTGTAAG	TTCTGTAAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr6:129766963_129766971delTTCTGTAAG	ENST00000421865.2	+	45	6475_6478	c.6426_6429delTTCTGTAAG	c.(6424-6429)aattct>aa	p.NS2142del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2142	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACAAGCCAATTCTGTAAGTTCTTTTTAT	0.368																																																0			6																																								129808664	SO:0001630	splice_region_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6429+1TTCTGTAAG>-	6.37:g.129766963_129766971delTTCTGTAAG			129808656	Q14736|Q5VUM2|Q93022	Frame_Shift_Del	DEL	ENST00000421865.2	37	CCDS5138.1																																																																																				0.368	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		In_Frame_Del	-	129766971	TTCTGTAAG	-	129766963	8	5	436	1	0	1	0	1	0	0	1	0	8606	1490	52	0	6604	0	LAMA2	6	129766963	Splice_Site	DEL	TTCTGTAAG	TCGA-61-1907-01A-01W-0639-09	1632557	129766963	41348104	46	24081											
SASH1	23328	genome.wustl.edu	37	6	148865242	148865242	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr6:148865242C>T	ENST00000367467.3	+	18	3111	c.2636C>T	c.(2635-2637)gCc>gTc	p.A879V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	879					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCACGAAGGCCCAGCCCCTG	0.537																																																0			6											128	141	137					6																	148865242		2203	4300	6503	148906935	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2636C>T	6.37:g.148865242C>T	ENSP00000356437:p.Ala879Val		148906935	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.830889	0.00584	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.36157	1.27	5.06	-6.56	0.01848	.	2.051170	0.01842	N	0.035402	T	0.10252	0.0251	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09975	-1.0650	10	0.28530	T	0.3	0.1108	19.0698	0.93127	0.0:0.8553:0.0:0.1447	.	860;879	Q6P4R9;O94885	.;SASH1_HUMAN	V	879;640;289	ENSP00000356437:A879V	ENSP00000356437:A879V	A	+	2	0	SASH1	148906935	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.350000	0.07721	-1.212000	0.02620	-0.781000	0.03364	GCC		0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		T	148865242	C	T	148865242	3	4	436	1	0	0	0	0	1	0	0	0	13851	739	26	2	2706	2	SASH1	6	148865242	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	19098279	148865242	22249825	47	24082											
ZNF117	51351	genome.wustl.edu	37	7	64438578	64438578	+	Silent	SNP	A	A	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr7:64438578A>C	ENST00000282869.6	-	4	2655	c.1371T>G	c.(1369-1371)tcT>tcG	p.S457S		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	457					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAGTGTTGAAGATTGGTTAA	0.363																																																0			7											66	71	69					7																	64438578		2162	4281	6443	64076013	SO:0001819	synonymous_variant	7670			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1371T>G	7.37:g.64438578A>C			64076013	Q02313|Q7Z7Q7	Silent	SNP	ENST00000282869.6	37	CCDS43593.1																																																																																				0.363	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		C	64438578	A	C	64438578	2	2	436	1	0	0	0	0	0	0	0	1	17717	59	3	5		5	ZNF117	7	64438578	Silent	SNP	A	TCGA-61-1907-01A-01W-0639-09		64438578	94700085	48	24083											
SRPK2	6733	genome.wustl.edu	37	7	104783758	104783758	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr7:104783758T>G	ENST00000393651.3	-	10	920	c.833A>C	c.(832-834)aAc>aCc	p.N278T	SRPK2_ENST00000357311.3_Missense_Mutation_p.N267T|SRPK2_ENST00000489828.1_Missense_Mutation_p.N267T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TTTCTTTTTGTTTTTAGATAT	0.378																																																0			7											50	51	51					7																	104783758		2203	4300	6503	104570994	SO:0001583	missense	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.833A>C	7.37:g.104783758T>G	ENSP00000377262:p.Asn278Thr		104570994		Missense_Mutation	SNP	ENST00000393651.3	37	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279707	0.80692	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.23950	1.88;1.88;1.88	5.68	5.68	0.88126	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051274	0.85682	D	0.000000	T	0.46210	0.1381	L	0.56199	1.76	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.78314	0.991;0.971	T	0.24261	-1.0165	10	0.34782	T	0.22	-16.9235	15.9347	0.79694	0.0:0.0:0.0:1.0	.	278;267	P78362-2;P78362	.;SRPK2_HUMAN	T	278;267;267	ENSP00000377262:N278T;ENSP00000349863:N267T;ENSP00000419791:N267T	ENSP00000349863:N267T	N	-	2	0	SRPK2	104570994	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.506000	0.81665	2.167000	0.68274	0.454000	0.30748	AAC		0.378	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		G	104783758	T	G	104783758	3	3	436	1	0	0	0	0	1	0	0	0	15162	1725	60	5	1294	5	SRPK2	7	104783758	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	40345180	104783758	54354905	49	24084											
POT1	25913	genome.wustl.edu	37	7	124465383	124465395	+	Frame_Shift_Del	DEL	TCTGATGCTGGAA	TCTGATGCTGGAA	-	rs34541898|rs543210278		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	TCTGATGCTGGAA	TCTGATGCTGGAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr7:124465383_124465395delTCTGATGCTGGAA	ENST00000357628.3	-	18	2301_2313	c.1703_1715delTTCCAGCATCAGA	c.(1702-1716)attccagcatcagaafs	p.IPASE568fs	POT1_ENST00000393329.1_Frame_Shift_Del_p.IPASE437fs	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	568					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.E572K(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CATCAGAACTTCTGATGCTGGAATCTGGAAGAA	0.286																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											2	Substitution - Missense(2)	breast(2)	7																																								124252631	SO:0001589	frameshift_variant	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1703_1715delTTCCAGCATCAGA	7.37:g.124465383_124465395delTCTGATGCTGGAA	ENSP00000350249:p.Ile568fs		124252619	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Frame_Shift_Del	DEL	ENST00000357628.3	37	CCDS5793.1																																																																																				0.286	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			-	124465395	TCTGATGCTGGAA	-	124465383	7	5	436	1	0	1	0	1	0	0	0	0	12260	1783	62	0	197	0	POT1	7	124465383	Frame_Shift_Del	DEL	TCTGATGCTGGAA	TCGA-61-1907-01A-01W-0639-09	19681625	124465383	34673280	50	24085											
AGK	55750	genome.wustl.edu	37	7	141321569	141321569	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr7:141321569G>C	ENST00000355413.4	+	9	816	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	AGK_ENST00000473247.1_Missense_Mutation_p.E158Q|AGK_ENST00000535825.1_Missense_Mutation_p.E183Q	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	186	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGTGAAAGGAGAGACAGTTCC	0.353																																																0			7											154	140	145					7																	141321569		2203	4300	6503	140968038	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.556G>C	7.37:g.141321569G>C	ENSP00000347581:p.Glu186Gln		140968038	Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336714	0.60963	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.43294	2.53;2.53;0.95	4.61	3.7	0.42460	Diacylglycerol kinase, catalytic domain (2);	0.050960	0.85682	D	0.000000	T	0.27278	0.0669	N	0.13003	0.285	0.54753	D	0.999988	B	0.26318	0.146	B	0.33254	0.16	T	0.04737	-1.0930	10	0.13853	T	0.58	.	13.0876	0.59151	0.0:0.0:0.8379:0.1621	.	186	Q53H12	AGK_HUMAN	Q	186;158;183	ENSP00000347581:E186Q;ENSP00000420776:E158Q;ENSP00000444349:E183Q	ENSP00000347581:E186Q	E	+	1	0	AGK	140968038	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.897000	0.69831	1.243000	0.43853	0.561000	0.74099	GAG		0.353	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		C	141321569	G	C	141321569	3	2	436	1	0	0	0	0	1	0	0	0	383	943	33	3	586	3	AGK	7	141321569	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	16856186	141321569	17817094	51	24086											
SLC20A2	6575	genome.wustl.edu	37	8	42287611	42287611	+	Silent	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr8:42287611C>T	ENST00000342228.3	-	9	2049	c.1680G>A	c.(1678-1680)ggG>ggA	p.G560G	SLC20A2_ENST00000520262.1_Silent_p.G560G|SLC20A2_ENST00000520179.1_Silent_p.G560G	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	560					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGAGGTCCTTCCCCATGGTCT	0.607																																																0			8											101	81	88					8																	42287611		2203	4300	6503	42406768	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1680G>A	8.37:g.42287611C>T			42406768		Silent	SNP	ENST00000342228.3	37	CCDS6132.1																																																																																				0.607	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			T	42287611	C	T	42287611	2	4	436	1	0	0	0	0	0	0	0	1	14442	842	30	2		2	SLC20A2	8	42287611	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09		42287611	104076411	52	24087											
CSMD3	114788	genome.wustl.edu	37	8	114031368	114031368	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr8:114031368T>G	ENST00000297405.5	-	6	1202	c.958A>C	c.(958-960)Aaa>Caa	p.K320Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.K280Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.K320Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.K320Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	320	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCCAGTTTTTGTTGCTGATA	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											211	193	199					8																	114031368		2203	4300	6503	114100544	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.958A>C	8.37:g.114031368T>G	ENSP00000297405:p.Lys320Gln		114100544	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023467	0.75390	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.6	5.6	0.85130	CUB (5);	0.000000	0.64402	D	0.000001	D	0.93174	0.7826	N	0.21508	0.67	0.38623	D	0.95118	D;D;D;D	0.89917	0.989;0.999;1.0;0.999	D;D;D;D	0.91635	0.985;0.996;0.999;0.998	D	0.91363	0.5113	10	0.13853	T	0.58	.	15.7878	0.78322	0.0:0.0:0.0:1.0	.	320;320;320;280	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	Q	280;320;320;320	ENSP00000345799:K280Q;ENSP00000297405:K320Q;ENSP00000412263:K320Q;ENSP00000343124:K320Q	ENSP00000297405:K320Q	K	-	1	0	CSMD3	114100544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.694000	0.84235	2.132000	0.65825	0.377000	0.23210	AAA		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	114031368	T	G	114031368	3	3	436	1	0	0	0	0	1	0	0	0	3946	1821	63	5	10429	5	CSMD3	8	114031368	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	71743757	114031368	32332654	53	24088											
CYP11B1	1584	genome.wustl.edu	37	8	143956688	143956688	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr8:143956688A>T	ENST00000292427.4	-	7	1194	c.1162T>A	c.(1162-1164)Tca>Aca	p.S388T	CYP11B1_ENST00000517471.1_Missense_Mutation_p.S388T|CYP11B1_ENST00000377675.3_Missense_Mutation_p.S459T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	388					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	ACCAAGTCTGAGCTCGCCACT	0.607									Familial Hyperaldosteronism type I																																							0			8											72	68	69					8																	143956688		2203	4300	6503	143953690	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1162T>A	8.37:g.143956688A>T	ENSP00000292427:p.Ser388Thr		143953690	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	16.44	3.124396	0.56613	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;T;T;T	0.68479	1.56;-0.33;2.69;-0.33	3.12	3.12	0.35913	.	0.513669	0.15877	N	0.240255	T	0.69369	0.3103	L	0.41961	1.31	0.20926	N	0.999825	P;P;D;D;D	0.67145	0.899;0.875;0.976;0.996;0.982	P;P;D;D;P	0.65443	0.828;0.752;0.935;0.931;0.869	T	0.56056	-0.8042	10	0.45353	T	0.12	.	5.7155	0.17958	0.7599:0.0:0.0:0.2401	.	459;388;388;388;104	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	T	66;388;388;459	ENSP00000430144:S66T;ENSP00000292427:S388T;ENSP00000428043:S388T;ENSP00000366903:S459T	ENSP00000292427:S388T	S	-	1	0	CYP11B1	143953690	0.048000	0.20356	0.176000	0.23000	0.411000	0.31082	0.999000	0.29757	1.669000	0.50854	0.454000	0.30748	TCA		0.607	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143956688	A	T	143956688	3	4	436	1	0	0	0	0	1	0	0	0	4145	304	11	5	361	5	CYP11B1	8	143956688	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09	29925320	143956688	2407334	54	24089											
TOP1MT	116447	genome.wustl.edu	37	8	144407606	144407608	+	In_Frame_Del	DEL	GGC	GGC	-	rs368057294		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	GGC	GGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr8:144407606_144407608delGGC	ENST00000329245.4	-	5	613_615	c.579_581delGCC	c.(577-582)ccgcct>cct	p.193_194PP>P	TOP1MT_ENST00000523676.1_In_Frame_Del_p.95_96PP>P|TOP1MT_ENST00000519148.1_In_Frame_Del_p.95_96PP>P|TOP1MT_ENST00000521193.1_In_Frame_Del_p.95_96PP>P	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	193					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GAACAAGCCAGGCGGCTCAATCT	0.502																																																0			8																																								144478983	SO:0001651	inframe_deletion	116447			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.579_581delGCC	8.37:g.144407609_144407611delGGC	ENSP00000328835:p.Pro194del		144478981	B7ZAR5|E7ES89|Q86ST4|Q86V82	In_Frame_Del	DEL	ENST00000329245.4	37	CCDS6400.1																																																																																				0.502	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		-	144407608	GGC	-	144407606	7	5	436	1	0	1	0	1	0	0	0	0	16364	1000	35	0	1264	0	TOP1MT	8	144407606	In_Frame_Del	DEL	GGC	TCGA-61-1907-01A-01W-0639-09	450918	144407606	1956416	55	24090											
FAM75A6	389730	genome.wustl.edu	37	9	43624986	43624990	+	Frame_Shift_Del	DEL	TTCTG	TTCTG	-			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	TTCTG	TTCTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr9:43624986_43624990delTTCTG	ENST00000332857.6	-	4	3725_3729	c.3697_3701delCAGAA	c.(3697-3702)cagaagfs	p.QK1233fs	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1233					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGCTTGAAACTTCTGTTTGTGCTGA	0.507																																																0			9																																								43564986	SO:0001589	frameshift_variant	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3697_3701delCAGAA	9.37:g.43624986_43624990delTTCTG	ENSP00000329825:p.Gln1233fs		43564982		Frame_Shift_Del	DEL	ENST00000332857.6	37	CCDS47973.1																																																																																				0.507	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		-	43624990	TTCTG	-	43624986	7	5	436	1	0	1	0	1	0	0	0	0	5622	1609	56	0	334	0	FAM75A6	9	43624986	Frame_Shift_Del	DEL	TTCTG	TCGA-61-1907-01A-01W-0639-09		43624986	97588445	56	24091											
SURF4	6836	genome.wustl.edu	37	9	136231900	136231900	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr9:136231900T>A	ENST00000371989.3	-	5	488	c.359A>T	c.(358-360)aAc>aTc	p.N120I	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Missense_Mutation_p.N120I|SURF4_ENST00000371991.3_Missense_Mutation_p.N120I|SURF4_ENST00000545297.1_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	120					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CAGGGCCAGGTTCCTGAGGAA	0.592																																																0			9											24	20	22					9																	136231900		2200	4295	6495	135221721	SO:0001583	missense	6836				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.359A>T	9.37:g.136231900T>A	ENSP00000361057:p.Asn120Ile		135221721	B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	ENST00000371989.3	37	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.655718	0.88056	.	.	ENSG00000148248	ENST00000371989;ENST00000485435;ENST00000541390;ENST00000371991	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.92923	3.36	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.68943	0.961;0.961	D	0.88400	0.3014	9	0.87932	D	0	-3.3779	13.5234	0.61580	0.0:0.0:0.0:1.0	.	111;120	B7Z7A8;O15260	.;SURF4_HUMAN	I	120;120;111;120	.	ENSP00000361057:N120I	N	-	2	0	SURF4	135221721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.857000	0.86963	1.796000	0.52611	0.402000	0.26972	AAC		0.592	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		A	136231900	T	A	136231900	3	1	436	1	0	0	0	0	1	0	0	0	15405	1725	60	5	458	5	SURF4	9	136231900	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	92606914	136231900	4981531	57	24092											
NMT2	9397	genome.wustl.edu	37	10	15175312	15175312	+	Missense_Mutation	SNP	G	G	A	rs540952796		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr10:15175312G>A	ENST00000378165.4	-	4	522	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	NMT2_ENST00000540259.1_De_novo_Start_OutOfFrame|NMT2_ENST00000378150.1_Missense_Mutation_p.R135C|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.R135C	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	148					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GGTTCTTGGCGTACGTTGTCT	0.398													G|||	1	0.000199681	0	0	5008	,	,		19974	0		0	False		,,,				2504	0.001				Melanoma(117;1345 1645 4130 12688 30625)											0			10											168	165	166					10																	15175312		2203	4300	6503	15215318	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.442C>T	10.37:g.15175312G>A	ENSP00000367407:p.Arg148Cys		15215318	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324475	0.81580	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000535341	T	0.50277	0.75	5.81	5.81	0.92471	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.050733	0.85682	D	0.000000	T	0.69744	0.3145	H	0.95365	3.66	0.80722	D	1	P;P;P	0.51537	0.909;0.946;0.909	B;P;B	0.46510	0.381;0.519;0.381	T	0.80600	-0.1310	10	0.87932	D	0	-15.6528	20.0726	0.97729	0.0:0.0:1.0:0.0	.	148;135;148	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	C	148;135;179;135	ENSP00000367407:R148C	ENSP00000367385:R179C	R	-	1	0	NMT2	15215318	1.000000	0.71417	0.254000	0.24359	0.941000	0.58515	5.165000	0.64959	2.738000	0.93877	0.655000	0.94253	CGC		0.398	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		A	15175312	G	A	15175312	3	1	436	1	0	0	0	0	1	0	0	0	10504	1145	40	1	1090	1	NMT2	10	15175312	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09		15175312	120359435	58	24093											
MLLT10	8028	genome.wustl.edu	37	10	22023050	22023050	+	Silent	SNP	G	G	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr10:22023050G>A	ENST00000307729.7	+	20	3028	c.2850G>A	c.(2848-2850)ctG>ctA	p.L950L	MLLT10_ENST00000377072.3_Silent_p.L966L|MLLT10_ENST00000377059.3_Silent_p.L950L|MLLT10_ENST00000446906.2_Silent_p.L950L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	950					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAGCTACACTGACTAACAGGT	0.448			T	"MLL, PICALM, CDK6"	AL																																		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0			10											108	93	98					10																	22023050		2203	4300	6503	22063056	SO:0001819	synonymous_variant	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2850G>A	10.37:g.22023050G>A			22063056	B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	CCDS55708.1																																																																																				0.448	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			A	22023050	G	A	22023050	2	1	436	1	0	0	0	0	0	0	0	1	9626	1277	45	2		2	MLLT10	10	22023050	Silent	SNP	G	TCGA-61-1907-01A-01W-0639-09	6847738	22023050	113511697	59	24094											
GPR120	338557	genome.wustl.edu	37	10	95347019	95347019	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr10:95347019T>G	ENST00000371483.4	+	4	843	c.787T>G	c.(787-789)Tac>Gac	p.Y263D	FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Missense_Mutation_p.Y247D	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	263					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										AAGCCTGGCCTACTCGGAGAG	0.562																																																0			10											87	83	85					10																	95347019		2203	4300	6503	95337009	SO:0001583	missense	338557				CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.787T>G	10.37:g.95347019T>G	ENSP00000360538:p.Tyr263Asp		95337009	Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394894	0.25205	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.62639	1.23;0.01	4.99	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.195715	0.35466	N	0.003192	T	0.58949	0.2158	L	0.36672	1.1	0.32093	N	0.591657	D;D	0.55800	0.97;0.973	P;P	0.52481	0.646;0.7	T	0.62737	-0.6791	10	0.23891	T	0.37	-12.714	11.0297	0.47765	0.0:0.0736:0.0:0.9264	.	247;263	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	D	247;263	ENSP00000360536:Y247D;ENSP00000360538:Y263D	ENSP00000360536:Y247D	Y	+	1	0	O3FAR1	95337009	0.997000	0.39634	0.222000	0.23844	0.007000	0.05969	3.493000	0.53266	1.015000	0.39444	-0.451000	0.05528	TAC		0.562	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		G	95347019	T	G	95347019	3	3	436	1	0	0	0	0	1	0	0	0	6636	1522	53	5	801	5	GPR120	10	95347019	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	73323969	95347019	40187728	60	24095											
UROS	7390	genome.wustl.edu	37	10	127505050	127505050	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr10:127505050T>G	ENST00000368797.4	-	2	243	c.19A>C	c.(19-21)Aag>Cag	p.K7Q	UROS_ENST00000368774.1_Missense_Mutation_p.K7Q|UROS_ENST00000368786.1_Missense_Mutation_p.K7Q|UROS_ENST00000368778.3_Missense_Mutation_p.K7Q	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	7					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TTCGCATCCTTCAGTAAAAGA	0.473																																																0			10											142	125	131					10																	127505050		2203	4300	6503	127495040	SO:0001583	missense	7390			J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"congenital erythropoietic porphyria"	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.19A>C	10.37:g.127505050T>G	ENSP00000357787:p.Lys7Gln		127495040	B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	ENST00000368797.4	37	CCDS7648.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665634	0.67700	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761;ENST00000368778;ENST00000368774	D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17	5.17	5.17	0.71159	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (1);	0.000000	0.85682	D	0.000000	D	0.96262	0.8781	M	0.84433	2.695	0.53005	D	0.999963	D	0.76494	0.999	D	0.63381	0.914	D	0.96693	0.9512	10	0.87932	D	0	-22.773	12.627	0.56636	0.0:0.0:0.0:1.0	.	7	P10746	HEM4_HUMAN	Q	7	ENSP00000357787:K7Q;ENSP00000357775:K7Q;ENSP00000414833:K7Q;ENSP00000357767:K7Q;ENSP00000357763:K7Q	ENSP00000357763:K7Q	K	-	1	0	UROS	127495040	1.000000	0.71417	0.996000	0.52242	0.600000	0.36913	4.786000	0.62425	2.163000	0.67991	0.533000	0.62120	AAG		0.473	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	NM_000375		G	127505050	T	G	127505050	3	3	436	1	0	0	0	0	1	0	0	0	17030	1792	62	5	814	5	UROS	10	127505050	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	32158031	127505050	8029697	61	24096											
ATL3	25923	genome.wustl.edu	37	11	63420033	63420033	+	Silent	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr11:63420033C>G	ENST00000398868.3	-	4	696	c.420G>C	c.(418-420)ctG>ctC	p.L140L	RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000332645.4_Silent_p.L167L|ATL3_ENST00000538786.1_Silent_p.L122L	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	140	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GGGTATCCATCAGAACAACTG	0.378																																																0			11											80	75	77					11																	63420033		1862	4114	5976	63176609	SO:0001819	synonymous_variant	25923				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.420G>C	11.37:g.63420033C>G			63176609	Q8N7W5|Q9H8Q5|Q9UFL1	Silent	SNP	ENST00000398868.3	37	CCDS41663.1																																																																																				0.378	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		G	63420033	C	G	63420033	2	3	436	1	0	0	0	0	0	0	0	1	1108	813	29	3		3	ATL3	11	63420033	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09		63420033	71586483	62	24097											
SPDYC	387778	genome.wustl.edu	37	11	64940670	64940670	+	Silent	SNP	G	G	T	rs148562610		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr11:64940670G>T	ENST00000377185.2	+	7	946	c.864G>T	c.(862-864)ccG>ccT	p.P288P	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CAAAGCCTCCGGCACGCCCTG	0.637																																																0			11											83	77	79					11																	64940670		2201	4297	6498	64697246	SO:0001819	synonymous_variant	387778			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.864G>T	11.37:g.64940670G>T			64697246		Silent	SNP	ENST00000377185.2	37	CCDS31606.1																																																																																				0.637	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		T	64940670	G	T	64940670	2	4	436	1	0	0	0	0	0	0	0	1	15030	1103	39	3		3	SPDYC	11	64940670	Silent	SNP	G	TCGA-61-1907-01A-01W-0639-09	1520637	64940670	70065846	63	24098											
PRKRIR	5612	genome.wustl.edu	37	11	76063068	76063068	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr11:76063068C>T	ENST00000260045.3	-	5	1231	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	376					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ACAGATACTCCCATAACAGGT	0.378																																																0			11											60	59	59					11																	76063068		2191	4267	6458	75740716	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1126G>A	11.37:g.76063068C>T	ENSP00000260045:p.Gly376Arg		75740716	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774211	0.69992	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.21361	2.01;2.01	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.094910	0.64402	D	0.000001	T	0.38348	0.1037	L	0.56769	1.78	0.54753	D	0.999987	D	0.65815	0.995	P	0.60068	0.868	T	0.06110	-1.0845	10	0.19147	T	0.46	.	18.3441	0.90315	0.0:1.0:0.0:0.0	.	376	O43422	P52K_HUMAN	R	201;376	ENSP00000436249:G201R;ENSP00000260045:G376R	ENSP00000260045:G376R	G	-	1	0	PRKRIR	75740716	0.636000	0.27207	1.000000	0.80357	0.999000	0.98932	1.656000	0.37355	2.416000	0.81992	0.644000	0.83932	GGA		0.378	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		T	76063068	C	T	76063068	3	4	436	1	0	0	0	0	1	0	0	0	12529	632	22	2	1163	2	PRKRIR	11	76063068	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	11122398	76063068	58943448	64	24099											
MTNR1B	4544	genome.wustl.edu	37	11	92714701	92714701	+	Silent	SNP	C	C	T	rs139515067		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr11:92714701C>T	ENST00000257068.2	+	2	318	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	104					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.D104D(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCTTCTATGACGGCTGGGCCC	0.567																																																2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	11						C		0,4402		0,0,2201	171	168	169		312	-7.9	0	11	dbSNP_134	169	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	MTNR1B	NM_005959.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		104/363	92714701	1,12997	2201	4298	6499	92354349	SO:0001819	synonymous_variant	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.312C>T	11.37:g.92714701C>T			92354349		Silent	SNP	ENST00000257068.2	37	CCDS8290.1																																																																																				0.567	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			T	92714701	C	T	92714701	2	4	436	1	0	0	0	0	0	0	0	1	9952	535	19	1		1	MTNR1B	11	92714701	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09	16651633	92714701	42291815	65	24100											
EXPH5	23086	genome.wustl.edu	37	11	108409763	108409763	+	Missense_Mutation	SNP	A	A	T	rs139655098		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr11:108409763A>T	ENST00000265843.4	-	3	541	c.431T>A	c.(430-432)cTg>cAg	p.L144Q	EXPH5_ENST00000443411.1_5'Flank|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.L68Q|EXPH5_ENST00000525344.1_Missense_Mutation_p.L137Q	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	144					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTCTGTCCCAGTGATGGAAG	0.443																																																0			11											137	129	132					11																	108409763		2201	4298	6499	107914973	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.431T>A	11.37:g.108409763A>T	ENSP00000265843:p.Leu144Gln		107914973	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	A	9.870	1.198773	0.22121	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000525344;ENST00000526312;ENST00000531386	T;T;T;T;T	0.35236	4.2;4.13;4.2;4.04;1.32	5.2	-5.06	0.02946	.	1.417150	0.04742	N	0.422998	T	0.36799	0.0980	L	0.51422	1.61	0.09310	N	0.999999	P	0.47677	0.899	P	0.51355	0.667	T	0.42015	-0.9476	10	0.25751	T	0.34	13.576	5.0912	0.14710	0.3589:0.0:0.3859:0.2553	.	144	Q8NEV8	EXPH5_HUMAN	Q	144;68;137;68;68	ENSP00000265843:L144Q;ENSP00000391966:L68Q;ENSP00000432546:L137Q;ENSP00000432683:L68Q;ENSP00000433909:L68Q	ENSP00000265843:L144Q	L	-	2	0	EXPH5	107914973	0.000000	0.05858	0.007000	0.13788	0.058000	0.15608	-0.342000	0.07801	-0.875000	0.04022	-0.451000	0.05528	CTG		0.443	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108409763	A	T	108409763	3	4	436	1	0	0	0	0	1	0	0	0	5322	188	7	5	5554	5	EXPH5	11	108409763	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09	15695062	108409763	26596753	66	24101											
CEP164	22897	genome.wustl.edu	37	11	117280419	117280419	+	Silent	SNP	C	C	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr11:117280419C>A	ENST00000278935.3	+	30	3981	c.3834C>A	c.(3832-3834)gtC>gtA	p.V1278V	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1278					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAGCAGTGTCCTCAGCATCC	0.652																																																0			11											104	113	110					11																	117280419		2201	4296	6497	116785629	SO:0001819	synonymous_variant	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3834C>A	11.37:g.117280419C>A			116785629	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	CCDS31683.1																																																																																				0.652	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		A	117280419	C	A	117280419	2	1	436	1	0	0	0	0	0	0	0	1	3249	842	30	3		3	CEP164	11	117280419	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09	8870656	117280419	17726097	67	24102											
OPCML	4978	genome.wustl.edu	37	11	132527095	132527095	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr11:132527095G>T	ENST00000331898.7	-	2	865	c.287C>A	c.(286-288)aCc>aAc	p.T96N	OPCML_ENST00000374778.4_Missense_Mutation_p.T55N|OPCML_ENST00000541867.1_Missense_Mutation_p.T96N|OPCML_ENST00000524381.1_Missense_Mutation_p.T89N|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	96	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCTGTACTGGGTTGGTGTATT	0.527																																																0			11											246	183	204					11																	132527095		2201	4297	6498	132032305	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.287C>A	11.37:g.132527095G>T	ENSP00000330862:p.Thr96Asn		132032305	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505240	0.26949	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000541867	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.081085	0.46442	D	0.000299	T	0.13970	0.0338	N	0.05280	-0.08	0.40526	D	0.98088	B;B;B;B	0.17465	0.002;0.022;0.002;0.002	B;B;B;B	0.18263	0.021;0.021;0.021;0.021	T	0.18618	-1.0331	10	0.17832	T	0.49	-26.7912	15.5722	0.76349	0.0:0.1372:0.8628:0.0	.	96;89;96;96	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	N	96;89;55;96	ENSP00000330862:T96N;ENSP00000434750:T89N;ENSP00000363910:T55N;ENSP00000445496:T96N	ENSP00000330862:T96N	T	-	2	0	OPCML	132032305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.634000	0.54302	2.762000	0.94881	0.655000	0.94253	ACC		0.527	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		T	132527095	G	T	132527095	3	4	436	1	0	0	0	0	1	0	0	0	10874	1261	44	3	774	3	OPCML	11	132527095	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	15246676	132527095	2479421	68	24103											
WNK1	65125	genome.wustl.edu	37	12	1005787	1005787	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr12:1005787A>C	ENST00000315939.6	+	24	6777	c.6134A>C	c.(6133-6135)aAt>aCt	p.N2045T	WNK1_ENST00000535572.1_Missense_Mutation_p.N1797T|WNK1_ENST00000530271.2_Missense_Mutation_p.N2543T|WNK1_ENST00000537687.1_Missense_Mutation_p.N2305T|WNK1_ENST00000340908.4_Missense_Mutation_p.N1638T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2045					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTAGCCAGAATCTAAGTCAA	0.463																																					Colon(19;451 567 6672 12618 28860)											0			12											49	50	50					12																	1005787		2203	4300	6503	876048	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6134A>C	12.37:g.1005787A>C	ENSP00000313059:p.Asn2045Thr		876048	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	9.830	1.188262	0.21954	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.70631	-0.5;-0.46;-0.46;-0.48;0.71	5.93	-11.9	0.00025	.	0.826958	0.11003	N	0.610336	T	0.50633	0.1627	L	0.36672	1.1	0.09310	N	0.999996	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.003;0.001	T	0.20438	-1.0275	10	0.25751	T	0.34	0.0618	12.6542	0.56778	0.1685:0.3389:0.4926:0.0	.	1798;1797;2045	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	T	1797;2045;2305;1218;2543;1638	ENSP00000441972:N1797T;ENSP00000313059:N2045T;ENSP00000444465:N2305T;ENSP00000433548:N2543T;ENSP00000341292:N1638T	ENSP00000252477:N1218T	N	+	2	0	WNK1	876048	0.460000	0.25776	0.041000	0.18516	0.936000	0.57629	-0.769000	0.04710	-2.929000	0.00301	-1.231000	0.01572	AAT		0.463	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		C	1005787	A	C	1005787	3	2	436	1	0	0	0	0	1	0	0	0	17377	101	4	5	7730	5	WNK1	12	1005787	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09		1005787	132846108	69	24104											
STRAP	11171	genome.wustl.edu	37	12	16042945	16042945	+	Splice_Site	DEL	T	T	-			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr12:16042945delT	ENST00000419869.2	+	3	643		c.e3+2		STRAP_ENST00000025399.6_Splice_Site|STRAP_ENST00000538352.1_Splice_Site	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein						maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TTCACGCAGGTATCAGAAAAT	0.358																																																0			12											94	90	91					12																	16042945		2203	4300	6503	15934212	SO:0001630	splice_region_variant	11171			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.330+2T>-	12.37:g.16042945delT			15934212	B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Splice_Site	DEL	ENST00000419869.2	37	CCDS8676.1																																																																																				0.358	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178	Intron	-	16042945	T	-	16042945	8	5	436	1	0	1	0	1	0	0	1	0	15328	1652	57	0	342	0	STRAP	12	16042945	Splice_Site	DEL	T	TCGA-61-1907-01A-01W-0639-09	15037158	16042945	117808950	70	24105											
SLC4A8	9498	genome.wustl.edu	37	12	51868177	51868177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr12:51868177G>A	ENST00000453097.2	+	15	2173	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.W599*|SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.W599*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.W599*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.W679*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCCAGTACTGGAAGGACCACA	0.483																																																0			12											175	128	144					12																	51868177		2203	4300	6503	50154444	SO:0001587	stop_gained	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1956G>A	12.37:g.51868177G>A	ENSP00000405812:p.Trp652*		50154444		Nonsense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	40	8.011881	0.98610	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	17.5181	0.87780	0.0:0.0:1.0:0.0	.	.	.	.	X	599;679;652;599;652;599;599	.	ENSP00000315789:W652X	W	+	3	0	SLC4A8	50154444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.437000	0.97535	2.756000	0.94617	0.655000	0.94253	TGG		0.483	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		A	51868177	G	A	51868177	4	1	436	1	0	0	0	0	0	1	0	0	14662	1183	41	2	2014	2	SLC4A8	12	51868177	Nonsense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	35825232	51868177	81983718	71	24106											
LRP1	4035	genome.wustl.edu	37	12	57589144	57589144	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr12:57589144G>T	ENST00000243077.3	+	52	8865	c.8399G>T	c.(8398-8400)tGt>tTt	p.C2800F	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2800	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACAAAGACTGTGCTGATGGT	0.632																																																0			12											154	160	158					12																	57589144		2203	4300	6503	55875411	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8399G>T	12.37:g.57589144G>T	ENSP00000243077:p.Cys2800Phe		55875411	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669255	0.47677	.	.	ENSG00000123384	ENST00000243077	D	0.96459	-4.02	4.95	4.95	0.65309	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98865	0.9616	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99474	1.0946	10	0.87932	D	0	.	17.1132	0.86681	0.0:0.0:1.0:0.0	.	2800	Q07954	LRP1_HUMAN	F	2800	ENSP00000243077:C2800F	ENSP00000243077:C2800F	C	+	2	0	LRP1	55875411	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	9.558000	0.98132	2.562000	0.86427	0.561000	0.74099	TGT		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57589144	G	T	57589144	3	4	436	1	0	0	0	0	1	0	0	0	8951	1377	48	3	8605	3	LRP1	12	57589144	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	5720967	57589144	76262751	72	24107											
PTPRR	5801	genome.wustl.edu	37	12	71092083	71092083	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr12:71092083C>T	ENST00000283228.2	-	8	1693	c.1241G>A	c.(1240-1242)cGt>cAt	p.R414H	PTPRR_ENST00000440835.2_Missense_Mutation_p.R169H|PTPRR_ENST00000378778.1_Missense_Mutation_p.R208H|PTPRR_ENST00000342084.4_Missense_Mutation_p.R302H|PTPRR_ENST00000549308.1_Missense_Mutation_p.R169H	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	414	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGTTCCATGACGCGGAATATC	0.348																																																0			12											86	88	87					12																	71092083		2202	4300	6502	69378350	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1241G>A	12.37:g.71092083C>T	ENSP00000283228:p.Arg414His		69378350	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303861	0.60305	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.245199	0.28940	N	0.013652	T	0.24812	0.0602	N	0.11756	0.17	0.34452	D	0.700805	P;P;D;P	0.58970	0.921;0.86;0.984;0.863	B;B;B;B	0.44044	0.092;0.136;0.439;0.094	T	0.21586	-1.0241	10	0.49607	T	0.09	-5.594	20.0341	0.97551	0.0:1.0:0.0:0.0	.	263;302;208;414	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	H	169;414;208;302;169;169	ENSP00000391750:R169H;ENSP00000283228:R414H;ENSP00000368054:R208H;ENSP00000339605:R302H;ENSP00000446943:R169H;ENSP00000449616:R169H	ENSP00000283228:R414H	R	-	2	0	PTPRR	69378350	0.993000	0.37304	0.998000	0.56505	0.955000	0.61496	3.121000	0.50438	2.753000	0.94483	0.555000	0.69702	CGT		0.348	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		T	71092083	C	T	71092083	3	4	436	1	0	0	0	0	1	0	0	0	12813	536	19	1	760	1	PTPRR	12	71092083	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	13502939	71092083	62759812	73	24108											
KERA	11081	genome.wustl.edu	37	12	91449298	91449298	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr12:91449298A>G	ENST00000266719.3	-	2	1008	c.761T>C	c.(760-762)cTc>cCc	p.L254P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	254					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TCTTGATGGGAGACCCTCATC	0.393																																																0			12											118	110	113					12																	91449298		2203	4299	6502	89973429	SO:0001583	missense	11081			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.761T>C	12.37:g.91449298A>G	ENSP00000266719:p.Leu254Pro		89973429		Missense_Mutation	SNP	ENST00000266719.3	37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543386	0.65198	.	.	ENSG00000139330	ENST00000266719	T	0.26810	1.71	5.91	5.91	0.95273	.	0.220301	0.46145	D	0.000305	T	0.57036	0.2026	M	0.89095	3.005	0.80722	D	1	D	0.69078	0.997	D	0.67231	0.95	T	0.65434	-0.6169	10	0.72032	D	0.01	-12.7814	15.5248	0.75894	1.0:0.0:0.0:0.0	.	254	O60938	KERA_HUMAN	P	254	ENSP00000266719:L254P	ENSP00000266719:L254P	L	-	2	0	KERA	89973429	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	8.737000	0.91562	2.269000	0.75478	0.533000	0.62120	CTC		0.393	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		G	91449298	A	G	91449298	3	3	436	1	0	0	0	0	1	0	0	0	8143	304	11	4	305	4	KERA	12	91449298	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09	20357215	91449298	42402597	74	24109											
NEDD1	121441	genome.wustl.edu	37	12	97328874	97328874	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr12:97328874G>T	ENST00000266742.4	+	7	949	c.610G>T	c.(610-612)Gta>Tta	p.V204L	NEDD1_ENST00000429527.2_Missense_Mutation_p.V204L|NEDD1_ENST00000411739.2_Missense_Mutation_p.V115L|NEDD1_ENST00000557644.1_Missense_Mutation_p.V211L|NEDD1_ENST00000457368.2_Missense_Mutation_p.V115L|NEDD1_ENST00000555114.1_3'UTR	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	204					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CTTTGACAGTGTACACAAAGC	0.403																																																0			12											232	220	224					12																	97328874		2203	4300	6503	95853005	SO:0001583	missense	121441				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.610G>T	12.37:g.97328874G>T	ENSP00000266742:p.Val204Leu		95853005	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444039	0.25987	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000553609;ENST00000557644;ENST00000457368	T;T;T;T;T;T	0.28666	1.63;1.63;1.6;1.63;1.63;1.6	5.71	3.37	0.38596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.452981	0.27280	N	0.020091	T	0.17916	0.0430	N	0.17474	0.49	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17198	-1.0377	10	0.54805	T	0.06	.	8.0202	0.30404	0.7733:0.0:0.2267:0.0	.	211;204	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	L	204;204;115;115;211;115	ENSP00000266742:V204L;ENSP00000404978:V204L;ENSP00000411307:V115L;ENSP00000451830:V115L;ENSP00000451211:V211L;ENSP00000407964:V115L	ENSP00000266742:V204L	V	+	1	0	NEDD1	95853005	0.772000	0.28567	0.486000	0.27416	0.212000	0.24457	1.374000	0.34283	0.444000	0.26612	-0.312000	0.09012	GTA		0.403	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			T	97328874	G	T	97328874	3	4	436	1	0	0	0	0	1	0	0	0	10309	1377	48	3	653	3	NEDD1	12	97328874	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	5879576	97328874	36523021	75	24110											
APPL2	55198	genome.wustl.edu	37	12	105568105	105568105	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr12:105568105T>A	ENST00000258530.3	-	21	2207	c.1982A>T	c.(1981-1983)gAa>gTa	p.E661V	APPL2_ENST00000539978.2_Missense_Mutation_p.E618V|APPL2_ENST00000551662.1_Missense_Mutation_p.E667V|APPL2_ENST00000546731.1_Missense_Mutation_p.E104V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGCTTCGGATTCTGCGCCTCT	0.458																																																0			12											219	177	191					12																	105568105		2203	4300	6503	104092235	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1982A>T	12.37:g.105568105T>A	ENSP00000258530:p.Glu661Val		104092235	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746522	0.89663	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000546731;ENST00000551662	T;T;T	0.29397	2.36;1.57;2.14	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.45293	-0.9271	10	0.87932	D	0	-28.6731	16.3798	0.83452	0.0:0.0:0.0:1.0	.	667;661	F8W1P5;Q8NEU8	.;DP13B_HUMAN	V	661;618;104;667	ENSP00000258530:E661V;ENSP00000444472:E618V;ENSP00000446917:E667V	ENSP00000258530:E661V	E	-	2	0	APPL2	104092235	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.819000	0.69243	2.271000	0.75665	0.533000	0.62120	GAA		0.458	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		A	105568105	T	A	105568105	3	1	436	1	0	0	0	0	1	0	0	0	818	1783	62	5	16	5	APPL2	12	105568105	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	8239231	105568105	28283790	76	24111											
RBM26	64062	genome.wustl.edu	37	13	79951643	79951643	+	Silent	SNP	C	C	T	rs148317097		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr13:79951643C>T	ENST00000438737.2	-	3	638	c.198G>A	c.(196-198)caG>caA	p.Q66Q	RBM26_ENST00000438724.1_Silent_p.Q66Q|RBM26_ENST00000267229.7_Silent_p.Q66Q			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	66				Q -> H (in Ref. 5; CAI56708). {ECO:0000305}.	mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCACAAATATCTGTGTCTCTA	0.353																																																0			13											58	58	58					13																	79951643		2203	4300	6503	78849644	SO:0001819	synonymous_variant	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.198G>A	13.37:g.79951643C>T			78849644	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37																																																																																					0.353	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		T	79951643	C	T	79951643	2	4	436	1	0	0	0	0	0	0	0	1	13129	912	32	2		2	RBM26	13	79951643	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09		79951643	35218235	77	24112											
CARKD	55739	genome.wustl.edu	37	13	111287051	111287051	+	Silent	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr13:111287051C>T	ENST00000309957.2	+	7	593	c.579C>T	c.(577-579)gcC>gcT	p.A193A	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000397191.4_3'UTR|CARKD_ENST00000458711.2_Silent_p.A62A|CARKD_ENST00000424185.2_Silent_p.A83A	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AGCAGCCGGCCCTCATCCATG	0.622																																																0			13											67	60	63					13																	111287051		2203	4300	6503	110085052	SO:0001819	synonymous_variant	55739			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.579C>T	13.37:g.111287051C>T			110085052		Silent	SNP	ENST00000309957.2	37	CCDS9513.1																																																																																				0.622	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		T	111287051	C	T	111287051	2	4	436	1	0	0	0	0	0	0	0	1	2654	610	22	2		2	CARKD	13	111287051	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09	31335408	111287051	3882827	78	24113											
ZBTB25	7597	genome.wustl.edu	37	14	64954618	64954618	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr14:64954618C>T	ENST00000608382.1	-	3	522	c.331G>A	c.(331-333)Gca>Aca	p.A111T	ZBTB25_ENST00000394715.1_Missense_Mutation_p.A111T|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	111					gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		ATTTCAGTTGCAATGTGAGAA	0.428																																																0			14											115	106	109					14																	64954618		2203	4300	6503	64024371	SO:0001583	missense	7597			X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13112	protein-coding gene	gene with protein product		194541	"zinc finger protein 46 (KUP)", "chromosome 14 open reading frame 51"	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.331G>A	14.37:g.64954618C>T	ENSP00000476746:p.Ala111Thr		64024371	B3KUX6|Q8IYH9	Missense_Mutation	SNP	ENST00000608382.1	37	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908532	0.72868	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	T;T	0.68025	-0.3;-0.3	5.92	5.92	0.95590	BTB/POZ-like (1);BTB/POZ fold (1);	0.094031	0.64402	D	0.000001	T	0.79793	0.4507	L	0.54323	1.7	0.54753	D	0.999983	D	0.76494	0.999	D	0.72338	0.977	T	0.77429	-0.2591	10	0.46703	T	0.11	-15.672	20.3207	0.98668	0.0:1.0:0.0:0.0	.	111	P24278	ZBT25_HUMAN	T	111	ENSP00000261683:A111T;ENSP00000378204:A111T	ENSP00000261683:A111T	A	-	1	0	ZBTB25	64024371	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	1.954000	0.40362	2.813000	0.96785	0.561000	0.74099	GCA		0.428	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		T	64954618	C	T	64954618	3	4	436	1	0	0	0	0	1	0	0	0	17532	710	25	2	980	2	ZBTB25	14	64954618	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09		64954618	42394922	79	24114											
LTBP2	4053	genome.wustl.edu	37	14	74976028	74976028	+	Missense_Mutation	SNP	C	C	T	rs201430837		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr14:74976028C>T	ENST00000261978.4	-	22	3702	c.3316G>A	c.(3316-3318)Gga>Aga	p.G1106R	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1106R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1106	Cys-rich.|EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGCAGACTCCGGAGGGGCAG	0.657													C|||	1	0.000199681	0	0	5008	,	,		17305	0		0.001	False		,,,				2504	0															0			14											65	75	71					14																	74976028		2203	4300	6503	74045781	SO:0001583	missense	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3316G>A	14.37:g.74976028C>T	ENSP00000261978:p.Gly1106Arg		74045781	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	14.82|14.82	2.648916|2.648916	0.47362|0.47362	.|.	.|.	ENSG00000119681|ENSG00000119681	ENST00000261978;ENST00000556690|ENST00000556206	D;D|.	0.92249|.	-3.0;-2.47|.	5.31|5.31	5.31|5.31	0.75309|0.75309	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);|.	0.181300|.	0.26642|.	N|.	0.023259|.	D|D	0.84754|0.84754	0.5542|0.5542	M|M	0.91612|0.91612	3.225|3.225	0.44685|0.44685	D|D	0.997679|0.997679	B|.	0.29253|.	0.239|.	B|.	0.32393|.	0.145|.	D|D	0.87649|0.87649	0.2527|0.2527	10|5	0.87932|.	D|.	0|.	.|.	16.008|16.008	0.80377|0.80377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1106|.	Q14767|.	LTBP2_HUMAN|.	R|Q	1106|38	ENSP00000261978:G1106R;ENSP00000451477:G1106R|.	ENSP00000261978:G1106R|.	G|R	-|-	1|2	0|0	LTBP2|LTBP2	74045781|74045781	0.985000|0.985000	0.35326|0.35326	0.183000|0.183000	0.23137|0.23137	0.289000|0.289000	0.27227|0.27227	6.050000|6.050000	0.71063|0.71063	2.768000|2.768000	0.95171|0.95171	0.491000|0.491000	0.48974|0.48974	GGA|CGG		0.657	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		T	74976028	C	T	74976028	3	4	436	1	0	0	0	0	1	0	0	0	9074	661	23	1	2209	1	LTBP2	14	74976028	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	10021410	74976028	32373512	80	24115											
KCNK10	54207	genome.wustl.edu	37	14	88654311	88654311	+	Splice_Site	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr14:88654311C>G	ENST00000340700.5	-	6	1447	c.996G>C	c.(994-996)gaG>gaC	p.E332D	KCNK10_ENST00000319231.5_Splice_Site_p.E337D|KCNK10_ENST00000312350.5_Splice_Site_p.E337D	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	332					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGGGTCCTACCTCTTCTTTTG	0.493																																																0			14											144	145	145					14																	88654311		2203	4300	6503	87724064	SO:0001630	splice_region_variant	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.996+1G>C	14.37:g.88654311C>G			87724064	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255953	0.95336	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.24151	1.87;1.87;1.87	5.82	5.82	0.92795	.	0.045796	0.85682	D	0.000000	T	0.48589	0.1508	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.85130	0.997;0.992;0.997	T	0.17410	-1.0370	9	.	.	.	.	19.0811	0.93182	0.0:1.0:0.0:0.0	.	332;337;337	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	D	332;337;337	ENSP00000343104:E332D;ENSP00000310568:E337D;ENSP00000312811:E337D	.	E	-	3	2	KCNK10	87724064	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.067000	0.71193	2.756000	0.94617	0.561000	0.74099	GAG		0.493	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	Missense_Mutation	G	88654311	C	G	88654311	5	3	436	1	0	0	0	0	0	0	1	0	8059	695	24	3	628	3	KCNK10	14	88654311	Splice_Site	SNP	C	TCGA-61-1907-01A-01W-0639-09	13678283	88654311	18695229	81	24116											
SNUPN	10073	genome.wustl.edu	37	15	75890848	75890848	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr15:75890848G>C	ENST00000564644.1	-	10	1512	c.934C>G	c.(934-936)Cac>Gac	p.H312D	SNUPN_ENST00000308588.5_Missense_Mutation_p.H312D|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Missense_Mutation_p.H312D|SNUPN_ENST00000564675.1_Missense_Mutation_p.H312D|SNUPN_ENST00000371091.5_Missense_Mutation_p.H354D			O95149	SPN1_HUMAN	snurportin 1	312	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CTCTTCTTGTGCTCCATAATC	0.542																																																0			15											136	136	136					15																	75890848		2197	4294	6491	73677903	SO:0001583	missense	10073			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.934C>G	15.37:g.75890848G>C	ENSP00000454852:p.His312Asp		73677903	A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	ENST00000564644.1	37	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377014	0.82682	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.62639	0.01;0.01	5.9	4.98	0.66077	.	0.131721	0.64402	D	0.000001	T	0.66257	0.2771	M	0.72894	2.215	0.58432	D	0.999994	P;P	0.50617	0.937;0.835	P;B	0.48704	0.587;0.368	T	0.69131	-0.5226	10	0.54805	T	0.06	-28.1519	9.8478	0.41037	0.0735:0.0:0.7798:0.1466	.	354;312	C9K0X5;O95149	.;SPN1_HUMAN	D	312;354	ENSP00000309831:H312D;ENSP00000360132:H354D	ENSP00000309831:H312D	H	-	1	0	SNUPN	73677903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.297000	0.59061	1.518000	0.48934	0.555000	0.69702	CAC		0.542	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		C	75890848	G	C	75890848	3	2	436	1	0	0	0	0	1	0	0	0	14880	1319	46	3	152	3	SNUPN	15	75890848	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09		75890848	26640544	82	24117											
SETD1A	9739	genome.wustl.edu	37	16	30974875	30974875	+	Splice_Site	SNP	G	G	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr16:30974875G>C	ENST00000262519.8	+	5	1325	c.639G>C	c.(637-639)acG>acC	p.T213T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	213					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACTGAGACGGTGAGAAGTT	0.597																																																0			16											50	53	52					16																	30974875		2197	4300	6497	30882376	SO:0001630	splice_region_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.639+1G>C	16.37:g.30974875G>C			30882376	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																				0.597	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	Silent	C	30974875	G	C	30974875	5	2	436	1	0	0	0	0	0	0	1	0	14133	1130	39	3	653	3	SETD1A	16	30974875	Splice_Site	SNP	G	TCGA-61-1907-01A-01W-0639-09		30974875	59379878	83	24118											
ITGAM	3684	genome.wustl.edu	37	16	31308847	31308847	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr16:31308847T>C	ENST00000287497.8	+	13	1444	c.1369T>C	c.(1369-1371)Ttc>Ctc	p.F457L	ITGAM_ENST00000544665.3_Missense_Mutation_p.F457L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	457					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGCGCCTACTTCGGGGCCTC	0.587																																																0			16											118	129	125					16																	31308847		2190	4293	6483	31216348	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1369T>C	16.37:g.31308847T>C	ENSP00000287497:p.Phe457Leu		31216348	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253636	0.39797	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.28454	1.61;1.61	3.73	3.73	0.42828	.	.	.	.	.	T	0.55226	0.1907	H	0.95574	3.69	0.45837	D	0.998707	D;P	0.58970	0.984;0.926	P;P	0.53360	0.724;0.605	T	0.66364	-0.5942	9	0.66056	D	0.02	.	9.0074	0.36120	0.0:0.0:0.0:1.0	.	457;457	Q4VAK1;P11215	.;ITAM_HUMAN	L	457	ENSP00000441691:F457L;ENSP00000287497:F457L	ENSP00000287497:F457L	F	+	1	0	ITGAM	31216348	1.000000	0.71417	0.992000	0.48379	0.835000	0.47333	5.992000	0.70609	1.682000	0.51000	0.533000	0.62120	TTC		0.587	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		C	31308847	T	C	31308847	3	2	436	1	0	0	0	0	1	0	0	0	7887	1609	56	4	1419	4	ITGAM	16	31308847	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	333972	31308847	59045906	84	24119											
CNGB1	1258	genome.wustl.edu	37	16	57951379	57951379	+	Splice_Site	SNP	G	G	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr16:57951379G>A	ENST00000251102.8	-	21	2019	c.1959C>T	c.(1957-1959)aaC>aaT	p.N653N	CNGB1_ENST00000564448.1_Splice_Site_p.N647N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	653					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CATACATCAGGTCTGTGGGGA	0.547																																					Colon(156;1293 1853 16336 28962 38659)											0			16											88	93	91					16																	57951379		2086	4210	6296	56508880	SO:0001630	splice_region_variant	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1958-1C>T	16.37:g.57951379G>A			56508880	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																				0.547	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	Silent	A	57951379	G	A	57951379	5	1	436	1	0	0	0	0	0	0	1	0	3600	1275	44	2	1848	2	CNGB1	16	57951379	Splice_Site	SNP	G	TCGA-61-1907-01A-01W-0639-09	26642532	57951379	32403374	85	24120											
UBE2O	63893	genome.wustl.edu	37	17	74391853	74391853	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr17:74391853T>C	ENST00000319380.7	-	15	2963	c.2899A>G	c.(2899-2901)Acc>Gcc	p.T967A	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	967					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGCAGTGAGGTAGCCAGCAGC	0.522																																																0			17											124	108	113					17																	74391853		2203	4300	6503	71903448	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2899A>G	17.37:g.74391853T>C	ENSP00000323687:p.Thr967Ala		71903448	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098406	0.76870	.	.	ENSG00000175931	ENST00000319380	T	0.37235	1.21	5.24	5.24	0.73138	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	N	0.25426	0.745	0.54753	D	0.999985	D	0.69078	0.997	D	0.80764	0.994	T	0.30268	-0.9984	10	0.25106	T	0.35	-41.5374	15.1507	0.72696	0.0:0.0:0.0:1.0	.	967	Q9C0C9	UBE2O_HUMAN	A	967	ENSP00000323687:T967A	ENSP00000323687:T967A	T	-	1	0	UBE2O	71903448	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.817000	0.86213	1.973000	0.57446	0.460000	0.39030	ACC		0.522	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		C	74391853	T	C	74391853	3	2	436	1	0	0	0	0	1	0	0	0	16868	1638	57	4	995	4	UBE2O	17	74391853	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09		74391853	6803357	86	24121											
CCDC137	339230	genome.wustl.edu	37	17	79637264	79637264	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr17:79637264C>T	ENST00000329214.8	+	3	681	c.278C>T	c.(277-279)aCc>aTc	p.T93I		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	93							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCCCAGGTGACCTTCAGAAAG	0.577																																																0			17											27	31	29					17																	79637264		2029	4191	6220	77247669	SO:0001583	missense	339230			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.278C>T	17.37:g.79637264C>T	ENSP00000329360:p.Thr93Ile		77247669		Missense_Mutation	SNP	ENST00000329214.8	37	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964617	0.18583	.	.	ENSG00000185298	ENST00000329214	D	0.90133	-2.62	4.74	2.75	0.32379	.	1.222610	0.05765	N	0.605673	D	0.82356	0.5019	N	0.22421	0.69	0.20489	N	0.999892	P	0.36535	0.557	B	0.30782	0.12	T	0.71384	-0.4609	10	0.35671	T	0.21	1.7164	6.7881	0.23685	0.0:0.7894:0.0:0.2106	.	93	Q6PK04	CC137_HUMAN	I	93	ENSP00000329360:T93I	ENSP00000329360:T93I	T	+	2	0	CCDC137	77247669	0.003000	0.15002	0.945000	0.38365	0.091000	0.18340	0.147000	0.16202	0.591000	0.29711	0.655000	0.94253	ACC		0.577	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1			T	79637264	C	T	79637264	3	4	436	1	0	0	0	0	1	0	0	0	2771	507	18	2	288	2	CCDC137	17	79637264	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	5245411	79637264	1557946	87	24122											
ZNF750	79755	genome.wustl.edu	37	17	80788202	80788202	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr17:80788202C>T	ENST00000269394.3	-	3	2821	c.1988G>A	c.(1987-1989)tGc>tAc	p.C663Y	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.C264Y|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	663					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTCTTGCCGGCAGGCAGGTTC	0.637																																																0			17											73	73	73					17																	80788202		2203	4300	6503	78381491	SO:0001583	missense	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1988G>A	17.37:g.80788202C>T	ENSP00000269394:p.Cys663Tyr		78381491	Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	6.077	0.382573	0.11524	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.12984	2.63	5.23	-1.06	0.10002	.	0.718085	0.12389	N	0.473239	T	0.11196	0.0273	L	0.47716	1.5	0.09310	N	1	B	0.30824	0.296	B	0.27380	0.079	T	0.25293	-1.0136	9	.	.	.	-3.7886	10.5577	0.45127	0.1976:0.1867:0.6157:0.0	.	663	Q32MQ0	ZN750_HUMAN	Y	663;256	ENSP00000269394:C663Y	.	C	-	2	0	ZNF750	78381491	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.744000	0.04839	-0.073000	0.12842	0.591000	0.81541	TGC		0.637	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		T	80788202	C	T	80788202	3	4	436	1	0	0	0	0	1	0	0	0	18132	710	25	2	187	2	ZNF750	17	80788202	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	1150938	80788202	407008	88	24123											
ANKRD12	23253	genome.wustl.edu	37	18	9254628	9254628	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr18:9254628C>G	ENST00000262126.4	+	9	1603	c.1363C>G	c.(1363-1365)Caa>Gaa	p.Q455E	ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q432E|ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q432E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	455						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTCTGATATGCAAACCAAAAA	0.313																																																0			18											49	57	54					18																	9254628		2202	4286	6488	9244628	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1363C>G	18.37:g.9254628C>G	ENSP00000262126:p.Gln455Glu		9244628	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	3.203	-0.163262	0.06502	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	T;T	0.04862	3.58;3.54	5.95	5.01	0.66863	.	0.049805	0.85682	D	0.000000	T	0.06142	0.0159	L	0.36672	1.1	0.30771	N	0.743008	B;B;B	0.28258	0.205;0.205;0.07	B;B;B	0.24394	0.053;0.036;0.016	T	0.04825	-1.0924	10	0.37606	T	0.19	-22.0863	11.714	0.51641	0.3769:0.623:0.0:0.0	.	82;432;455	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	E	432;455;162	ENSP00000372932:Q432E;ENSP00000262126:Q455E	ENSP00000262126:Q455E	Q	+	1	0	ANKRD12	9244628	0.998000	0.40836	0.899000	0.35326	0.348000	0.29142	5.178000	0.65037	2.827000	0.97445	0.650000	0.86243	CAA		0.313	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		G	9254628	C	G	9254628	3	3	436	1	0	0	0	0	1	0	0	0	640	711	25	3	1393	3	ANKRD12	18	9254628	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09		9254628	68822620	89	24124											
CTAGE1	64693	genome.wustl.edu	37	18	19995759	19995759	+	5'Flank	SNP	C	C	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr18:19995759C>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.L672F			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTACTGGAAACAATAAACCTC	0.483																																																0			18											98	108	105					18																	19995759		2202	4293	6495	18249757	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995759C>A	Exception_encountered		18249757	B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37		.	.	.	.	.	.	.	.	.	.	C	7.092	0.572280	0.13623	.	.	ENSG00000212710	ENST00000391403	T	0.10099	2.91	0.614	-0.676	0.11361	.	.	.	.	.	T	0.11623	0.0283	M	0.68952	2.095	0.09310	N	1	B	0.18610	0.029	B	0.28709	0.093	T	0.39542	-0.9609	7	.	.	.	.	.	.	.	.	672	Q96RT6	CTGE2_HUMAN	F	672	ENSP00000375220:L672F	.	L	-	3	2	CTAGE1	18249757	0.282000	0.24268	0.039000	0.18376	0.002000	0.02628	0.028000	0.13644	-0.663000	0.05331	-1.261000	0.01458	TTG		0.483	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		A	19995759	C	A	19995759	1	1	436	0	1	0	0	0	0	0	0	0	3992	477	17	3		3	CTAGE1	18	19995759	5'Flank	SNP	C	TCGA-61-1907-01A-01W-0639-09	10741131	19995759	58081489	90	24125											
LAMA3	3909	genome.wustl.edu	37	18	21399905	21399905	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr18:21399905C>G	ENST00000313654.9	+	19	2489	c.2248C>G	c.(2248-2250)Ccg>Gcg	p.P750A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P750A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	750					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGATTTGATCCGCTGGCATT	0.468																																																0			18											130	125	127					18																	21399905		1937	4131	6068	19653903	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2248C>G	18.37:g.21399905C>G	ENSP00000324532:p.Pro750Ala		19653903	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305043	0.60305	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19250	2.17;2.16	5.47	4.59	0.56863	.	.	.	.	.	T	0.37705	0.1013	M	0.80847	2.515	0.80722	D	1	D;D	0.59767	0.986;0.983	P;P	0.53450	0.726;0.723	T	0.31558	-0.9939	9	0.66056	D	0.02	.	9.8264	0.40914	0.0:0.7864:0.1409:0.0727	.	750;750	Q6VU67;Q16787	.;LAMA3_HUMAN	A	750;750;748	ENSP00000324532:P750A;ENSP00000382432:P750A	ENSP00000324532:P750A	P	+	1	0	LAMA3	19653903	0.998000	0.40836	1.000000	0.80357	0.557000	0.35523	2.398000	0.44486	1.308000	0.44962	-0.314000	0.08810	CCG		0.468	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		G	21399905	C	G	21399905	3	3	436	1	0	0	0	0	1	0	0	0	8607	855	30	3	2322	3	LAMA3	18	21399905	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	1404146	21399905	56677343	91	24126											
DSC1	1823	genome.wustl.edu	37	18	28719710	28719716	+	Splice_Site	DEL	CCTGCAT	CCTGCAT	-			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	CCTGCAT	CCTGCAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr18:28719710_28719716delCCTGCAT	ENST00000257198.5	-	11	1919_1925	c.1658_1664delATGCAGG	c.(1657-1665)gatgcaggt>gt	p.DAG553fs	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Splice_Site_p.DAG553fs	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	553	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.A554E(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATGGCACTCACCTGCATCCACTGCAAC	0.314																																																4	Substitution - Missense(2)|Unknown(2)	lung(4)	18																																								26973714	SO:0001630	splice_region_variant	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1663+1ATGCAGG>-	18.37:g.28719710_28719716delCCTGCAT			26973708	Q9HB01	Splice_Site	DEL	ENST00000257198.5	37	CCDS11894.1																																																																																				0.314	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	Frame_Shift_Del	-	28719716	CCTGCAT	-	28719710	8	5	436	1	0	1	0	1	0	0	1	0	4765	521	18	0	1084	0	DSC1	18	28719710	Splice_Site	DEL	CCTGCAT	TCGA-61-1907-01A-01W-0639-09	7319805	28719710	49357538	92	24127											
RIT2	6014	genome.wustl.edu	37	18	40695395	40695395	+	Silent	SNP	T	T	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr18:40695395T>G	ENST00000326695.5	-	1	261	c.90A>C	c.(88-90)ggA>ggC	p.G30G	RIT2_ENST00000590910.1_Silent_p.G30G|RIT2_ENST00000282028.4_Silent_p.G30G|RIT2_ENST00000589109.1_Silent_p.G30G	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	30					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTTACCAACTCCCCCTGCTC	0.507																																																0			18											128	126	127					18																	40695395		2203	4300	6503	38949393	SO:0001819	synonymous_variant	6014			BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"Ric (Drosophila)-like, expressed in neurons"	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.90A>C	18.37:g.40695395T>G			38949393	B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Silent	SNP	ENST00000326695.5	37	CCDS11921.1																																																																																				0.507	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		G	40695395	T	G	40695395	2	3	436	1	0	0	0	0	0	0	0	1	13390	1538	54	5		5	RIT2	18	40695395	Silent	SNP	T	TCGA-61-1907-01A-01W-0639-09	11975685	40695395	37381853	93	24128											
SERPINB5	5268	genome.wustl.edu	37	18	61154236	61154236	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr18:61154236G>A	ENST00000382771.4	+	3	518	c.226G>A	c.(226-228)Gat>Aat	p.D76N	RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Missense_Mutation_p.D76N	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	76					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D76N(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AGTAACATCGGATGTAAACAA	0.353																																																1	Substitution - Missense(1)	kidney(1)	18											108	107	107					18																	61154236		2203	4299	6502	59305216	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.226G>A	18.37:g.61154236G>A	ENSP00000372221:p.Asp76Asn		59305216	B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523709	0.85600	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84223	-1.82;-1.82	5.32	5.32	0.75619	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.88808	0.6537	L	0.51422	1.61	0.54753	D	0.999984	D;B	0.60160	0.987;0.072	P;B	0.58210	0.835;0.037	D	0.88718	0.3227	10	0.51188	T	0.08	.	18.1356	0.89618	0.0:0.0:1.0:0.0	.	76;76	P36952;P36952-2	SPB5_HUMAN;.	N	76	ENSP00000372221:D76N;ENSP00000408821:D76N	ENSP00000372221:D76N	D	+	1	0	SERPINB5	59305216	1.000000	0.71417	0.908000	0.35775	0.820000	0.46376	5.984000	0.70548	2.659000	0.90383	0.650000	0.86243	GAT		0.353	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		A	61154236	G	A	61154236	3	1	436	1	0	0	0	0	1	0	0	0	14107	1174	41	2	232	2	SERPINB5	18	61154236	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	20458841	61154236	16923012	94	24129											
ZNF236	7776	genome.wustl.edu	37	18	74620501	74620501	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr18:74620501G>C	ENST00000253159.8	+	14	2715	c.2517G>C	c.(2515-2517)ttG>ttC	p.L839F	ZNF236_ENST00000320610.9_Missense_Mutation_p.L841F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	839					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCCAGCAGTTGGCAGATCAGC	0.572																																																0			18											58	68	65					18																	74620501		2060	4209	6269	72749489	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2517G>C	18.37:g.74620501G>C	ENSP00000253159:p.Leu839Phe		72749489	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522549	0.44866	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12255	2.7;2.86	4.94	4.04	0.47022	.	0.093427	0.44097	D	0.000485	T	0.16642	0.0400	M	0.62723	1.935	0.09310	N	0.999996	P	0.47106	0.89	B	0.42245	0.381	T	0.13308	-1.0514	10	0.48119	T	0.1	.	11.7708	0.51958	0.1438:0.0:0.8562:0.0	.	839	Q9UL36	ZN236_HUMAN	F	839	ENSP00000253159:L839F;ENSP00000444524:L839F	ENSP00000253159:L839F	L	+	3	2	ZNF236	72749489	0.991000	0.36638	0.001000	0.08648	0.099000	0.18886	2.199000	0.42715	2.441000	0.82636	0.467000	0.42956	TTG		0.572	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			C	74620501	G	C	74620501	3	2	436	1	0	0	0	0	1	0	0	0	17789	1339	47	3	2571	3	ZNF236	18	74620501	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	13466265	74620501	3456747	95	24130											
TYK2	7297	genome.wustl.edu	37	19	10472497	10472497	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr19:10472497C>G	ENST00000525621.1	-	13	2389	c.1908G>C	c.(1906-1908)gaG>gaC	p.E636D	TYK2_ENST00000529370.1_Missense_Mutation_p.E636D|TYK2_ENST00000264818.6_Missense_Mutation_p.E636D|TYK2_ENST00000524462.1_Missense_Mutation_p.E451D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	636	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCACTCGTAGCTCCTGCCCAC	0.667																																																0			19											109	104	106					19																	10472497		2203	4300	6503	10333497	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1908G>C	19.37:g.10472497C>G	ENSP00000431885:p.Glu636Asp		10333497	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371541	0.24771	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	4.6	-0.511	0.11970	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.395064	0.20160	N	0.097975	T	0.69967	0.3170	L	0.45285	1.41	0.23620	N	0.997272	B;B	0.32302	0.363;0.151	B;B	0.33799	0.136;0.17	T	0.57539	-0.7794	10	0.36615	T	0.2	-19.501	1.8592	0.03185	0.1482:0.3832:0.29:0.1785	.	636;636	E9PPF2;P29597	.;TYK2_HUMAN	D	451;636;636;383;636	ENSP00000433203:E451D;ENSP00000431885:E636D;ENSP00000264818:E636D;ENSP00000432728:E636D	ENSP00000264818:E636D	E	-	3	2	TYK2	10333497	0.623000	0.27094	0.525000	0.27900	0.419000	0.31324	-0.157000	0.10085	0.040000	0.15660	-0.258000	0.10820	GAG		0.667	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			G	10472497	C	G	10472497	3	3	436	1	0	0	0	0	1	0	0	0	16810	796	28	3	1707	3	TYK2	19	10472497	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09		10472497	48656486	96	24131											
NCAN	1463	genome.wustl.edu	37	19	19338174	19338174	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr19:19338174C>G	ENST00000252575.6	+	8	1844	c.1745C>G	c.(1744-1746)gCc>gGc	p.A582G	NCAN_ENST00000538881.1_Missense_Mutation_p.A33G	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	582					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CACAGCAGGGCCCCTGTCCTG	0.647																																																0			19											49	56	54					19																	19338174		2203	4300	6503	19199174	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1745C>G	19.37:g.19338174C>G	ENSP00000252575:p.Ala582Gly		19199174	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714608	0.30413	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85629	-1.86;-2.01	4.02	-1.38	0.09027	.	0.938887	0.08714	N	0.904503	T	0.65657	0.2712	N	0.24115	0.695	0.09310	N	1	P;B	0.39480	0.675;0.421	B;B	0.29862	0.108;0.05	T	0.56238	-0.8012	10	0.15952	T	0.53	.	4.0793	0.09919	0.0:0.376:0.3781:0.2459	.	596;582	Q4LE67;O14594	.;NCAN_HUMAN	G	596;582;33	ENSP00000252575:A582G;ENSP00000442202:A33G	ENSP00000252575:A582G	A	+	2	0	NCAN	19199174	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.167000	0.03126	0.071000	0.16664	0.313000	0.20887	GCC		0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		G	19338174	C	G	19338174	3	3	436	1	0	0	0	0	1	0	0	0	10204	739	26	3	1771	3	NCAN	19	19338174	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	8865677	19338174	39790809	97	24132											
XRCC1	7515	genome.wustl.edu	37	19	44050049	44050049	+	Silent	SNP	C	C	G	rs201452576	byFrequency	TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr19:44050049C>G	ENST00000262887.5	-	14	2089	c.1542G>C	c.(1540-1542)ccG>ccC	p.P514P	XRCC1_ENST00000543982.1_Silent_p.P483P			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	514			P -> L (in dbSNP:rs25474).		base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGCCTGCATACGGGTCTTCCC	0.612								Other BER factors																																								0			19											117	103	108					19																	44050049		2203	4299	6502	48741889	SO:0001819	synonymous_variant	7515			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1542G>C	19.37:g.44050049C>G			48741889	Q6IBS4|Q9HCB1	Silent	SNP	ENST00000262887.5	37	CCDS12624.1																																																																																				0.612	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		G	44050049	C	G	44050049	2	3	436	1	0	0	0	0	0	0	0	1	17452	523	19	3		3	XRCC1	19	44050049	Silent	SNP	C	TCGA-61-1907-01A-01W-0639-09	24711875	44050049	15078934	98	24133											
CTNNBL1	56259	genome.wustl.edu	37	20	36488345	36488345	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr20:36488345G>C	ENST00000361383.6	+	14	1554	c.1437G>C	c.(1435-1437)gaG>gaC	p.E479D	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.E452D|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.E292D|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.E227D	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	479					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACACCGAGGAGGAGTTCTACC	0.522																																					Ovarian(184;582 2038 3273 4106 42608)											0			20											56	53	54					20																	36488345		2203	4300	6503	35921759	SO:0001583	missense	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1437G>C	20.37:g.36488345G>C	ENSP00000355050:p.Glu479Asp		35921759	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	G	0.885	-0.727561	0.03158	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.41065	1.04;1.04;1.02;1.01	5.28	-1.12	0.09808	.	0.088043	0.85682	N	0.000000	T	0.18002	0.0432	N	0.16307	0.4	0.34552	D	0.71141	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.35624	-0.9781	10	0.06757	T	0.87	-17.0254	6.8533	0.24026	0.0:0.4344:0.2446:0.321	.	479;292	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	D	479;452;292;227	ENSP00000355050:E479D;ENSP00000384355:E452D;ENSP00000362572:E292D;ENSP00000362568:E227D	ENSP00000355050:E479D	E	+	3	2	CTNNBL1	35921759	0.087000	0.21565	0.996000	0.52242	0.607000	0.37147	-0.599000	0.05700	-0.201000	0.10284	-0.397000	0.06425	GAG		0.522	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		C	36488345	G	C	36488345	3	2	436	1	0	0	0	0	1	0	0	0	4018	991	35	3	1491	3	CTNNBL1	20	36488345	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09		36488345	26537175	99	24134											
PTK6	5753	genome.wustl.edu	37	20	62163958	62163958	+	Silent	SNP	G	G	A	rs148258053		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr20:62163958G>A	ENST00000217185.2	-	5	780	c.753C>T	c.(751-753)taC>taT	p.Y251Y	PTK6_ENST00000542869.1_Silent_p.Y150Y	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	ACACCACGGCGTACAGCGCCA	0.662													g|||	1	0.000199681	0	0	5008	,	,		17730	0		0	False		,,,				2504	0.001															0			20								0,4406		0,0,2203	115	93	100		753	-2.1	0.1	20	dbSNP_134	100	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	PTK6	NM_005975.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		251/452	62163958	4,13002	2203	4300	6503	61634402	SO:0001819	synonymous_variant	5753			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.753C>T	20.37:g.62163958G>A			61634402	B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	CCDS13524.1																																																																																				0.662	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			A	62163958	G	A	62163958	2	1	436	1	0	0	0	0	0	0	0	1	12767	1140	40	1		1	PTK6	20	62163958	Silent	SNP	G	TCGA-61-1907-01A-01W-0639-09	25675613	62163958	861562	100	24135											
RRP1B	23076	genome.wustl.edu	37	21	45104510	45104510	+	Missense_Mutation	SNP	G	G	A	rs369172517		TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr21:45104510G>A	ENST00000340648.4	+	10	1085	c.968G>A	c.(967-969)cGc>cAc	p.R323H		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	323					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AACAGGAAGCGCCTCTCCAAA	0.483																																																0			21						G	HIS/ARG	0,4406		0,0,2203	118	112	114		968	2.6	0.1	21		114	2,8598	2.2+/-6.3	0,2,4298	no	missense	RRP1B	NM_015056.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	323/759	45104510	2,13004	2203	4300	6503	43928938	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.968G>A	21.37:g.45104510G>A	ENSP00000339145:p.Arg323His		43928938	Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697731	0.30142	0.0	2.33E-4	ENSG00000160208	ENST00000340648	T	0.01215	5.16	5.4	2.63	0.31362	.	0.424262	0.28527	N	0.015032	T	0.01800	0.0057	M	0.80982	2.52	0.20764	N	0.999856	D	0.53312	0.959	B	0.35655	0.207	T	0.46748	-0.9169	10	0.87932	D	0	-0.3776	8.9001	0.35490	0.2295:0.0:0.7705:0.0	.	323	Q14684	RRP1B_HUMAN	H	323	ENSP00000339145:R323H	ENSP00000339145:R323H	R	+	2	0	RRP1B	43928938	0.505000	0.26131	0.130000	0.21974	0.463000	0.32649	2.841000	0.48223	0.268000	0.21939	-0.251000	0.11542	CGC		0.483	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		A	45104510	G	A	45104510	3	1	436	1	0	0	0	0	1	0	0	0	13691	1087	38	1	1006	1	RRP1B	21	45104510	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09		45104510	3025385	101	24136											
BAIAP2L2	80115	genome.wustl.edu	37	22	38493113	38493113	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chr22:38493113C>T	ENST00000381669.3	-	7	682	c.538G>A	c.(538-540)Gag>Aag	p.E180K	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.E180K	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	180	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGCCGCTTCTCTTCCAATTCA	0.612																																																0			22											32	40	37					22																	38493113		2090	4220	6310	36823059	SO:0001583	missense	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.538G>A	22.37:g.38493113C>T	ENSP00000371085:p.Glu180Lys		36823059	B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413764	0.83449	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000332536	.	.	.	4.78	3.68	0.42216	IRSp53/MIM homology domain (IMD) (3);	0.051953	0.85682	D	0.000000	T	0.74489	0.3723	M	0.76170	2.325	0.80722	D	1	D	0.64830	0.994	P	0.58970	0.849	T	0.79451	-0.1798	9	0.87932	D	0	-18.2831	14.7031	0.69168	0.0:0.8543:0.1457:0.0	.	180	Q6UXY1	BI2L2_HUMAN	K	180	.	ENSP00000328876:E180K	E	-	1	0	BAIAP2L2	36823059	1.000000	0.71417	0.993000	0.49108	0.638000	0.38207	3.562000	0.53777	2.368000	0.80403	0.462000	0.41574	GAG		0.612	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		T	38493113	C	T	38493113	3	4	436	1	0	0	0	0	1	0	0	0	1303	922	32	2	1083	2	BAIAP2L2	22	38493113	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09		38493113	12811453	102	24137											
SMC1A	8243	genome.wustl.edu	37	X	53439958	53439958	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chrX:53439958A>G	ENST00000322213.4	-	5	873	c.746T>C	c.(745-747)aTc>aCc	p.I249T	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	249					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						gtccttctcgatctccttgtt	0.478																																																0			X											166	126	140					X																	53439958		2203	4300	6503	53456683	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.746T>C	X.37:g.53439958A>G	ENSP00000323421:p.Ile249Thr		53456683	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.09|10.09	1.254869|1.254869	0.22965|0.22965	.|.	.|.	ENSG00000072501|ENSG00000072501	ENST00000322213|ENST00000428014	T|.	0.78816|.	-1.21|.	4.4|4.4	4.4|4.4	0.53042|0.53042	RecF/RecN/SMC (1);|.	0.121139|.	0.52532|.	D|.	0.000076|.	T|T	0.54679|0.54679	0.1873|0.1873	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30526|.	0.014;0.283;0.25|.	B;B;B|.	0.35899|.	0.017;0.178;0.213|.	T|T	0.51116|0.51116	-0.8746|-0.8746	10|5	0.51188|.	T|.	0.08|.	.|.	12.1112|12.1112	0.53840|0.53840	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	227;249;249|.	Q6MZR8;A8K7A6;Q14683|.	.;.;SMC1A_HUMAN|.	T|P	249|254	ENSP00000323421:I249T|.	ENSP00000323421:I249T|.	I|S	-|-	2|1	0|0	SMC1A|SMC1A	53456683|53456683	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.543000|0.543000	0.35085|0.35085	7.132000|7.132000	0.77251|0.77251	1.560000|1.560000	0.49568|0.49568	0.356000|0.356000	0.21956|0.21956	ATC|TCG		0.478	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		G	53439958	A	G	53439958	3	3	436	1	0	0	0	0	1	0	0	0	14784	333	12	4	3039	4	SMC1A	23	53439958	Missense_Mutation	SNP	A	TCGA-61-1907-01A-01W-0639-09		53439958	101830602	103	24138											
HUWE1	10075	genome.wustl.edu	37	X	53563449	53563449	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chrX:53563449T>A	ENST00000342160.3	-	78	12774	c.12317A>T	c.(12316-12318)tAc>tTc	p.Y4106F	HUWE1_ENST00000262854.6_Missense_Mutation_p.Y4106F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4106	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAACTTGAAGTAGCTGAGGTG	0.473																																																0			X											208	173	185					X																	53563449		2203	4300	6503	53580174	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12317A>T	X.37:g.53563449T>A	ENSP00000340648:p.Tyr4106Phe		53580174	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095534	0.56075	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.59502	0.26;0.26	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.69248	2.105	0.80722	D	1	P;D	0.60575	0.939;0.988	D;D	0.70227	0.968;0.966	T	0.67197	-0.5731	10	0.13853	T	0.58	.	13.9194	0.63921	0.0:0.0:0.0:1.0	.	4106;4090	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	F	4106	ENSP00000340648:Y4106F;ENSP00000262854:Y4106F	ENSP00000262854:Y4106F	Y	-	2	0	HUWE1	53580174	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.435000	0.80391	2.000000	0.58554	0.481000	0.45027	TAC		0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53563449	T	A	53563449	3	1	436	1	0	0	0	0	1	0	0	0	7461	1638	57	5	831	5	HUWE1	23	53563449	Missense_Mutation	SNP	T	TCGA-61-1907-01A-01W-0639-09	123491	53563449	101707111	104	24139											
FAM120C	54954	genome.wustl.edu	37	X	54099581	54099581	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chrX:54099581G>C	ENST00000375180.2	-	16	3232	c.3176C>G	c.(3175-3177)tCc>tGc	p.S1059C	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1059							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTGTCTCTGGATAAGGCACA	0.458																																																0			X											218	163	181					X																	54099581		2203	4300	6503	54116306	SO:0001583	missense	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.3176C>G	X.37:g.54099581G>C	ENSP00000364324:p.Ser1059Cys		54116306	B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311214	0.60414	.	.	ENSG00000184083	ENST00000375180	T	0.26067	1.76	5.11	3.34	0.38264	.	0.416040	0.23194	N	0.050871	T	0.29491	0.0735	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.06006	-1.0851	10	0.66056	D	0.02	-1.5314	10.9248	0.47185	0.1393:0.0:0.8607:0.0	.	1059	Q9NX05	F120C_HUMAN	C	1059	ENSP00000364324:S1059C	ENSP00000364324:S1059C	S	-	2	0	FAM120C	54116306	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.351000	0.44071	0.486000	0.27676	0.600000	0.82982	TCC		0.458	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		C	54099581	G	C	54099581	3	2	436	1	0	0	0	0	1	0	0	0	5418	1174	41	3	118	3	FAM120C	23	54099581	Missense_Mutation	SNP	G	TCGA-61-1907-01A-01W-0639-09	536132	54099581	101170979	105	24140											
GNL3L	54552	genome.wustl.edu	37	X	54586975	54586975	+	Silent	SNP	T	T	C			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chrX:54586975T>C	ENST00000336470.4	+	16	1828	c.1689T>C	c.(1687-1689)tcT>tcC	p.S563S	GNL3L_ENST00000360845.2_Silent_p.S563S	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	563					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCAAGCTGTCTGATTCCATGA	0.512																																																0			X											263	213	230					X																	54586975		2203	4300	6503	54603700	SO:0001819	synonymous_variant	54552			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1689T>C	X.37:g.54586975T>C			54603700		Silent	SNP	ENST00000336470.4	37	CCDS14360.1																																																																																				0.512	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		C	54586975	T	C	54586975	2	2	436	1	0	0	0	0	0	0	0	1	6538	1567	55	4		4	GNL3L	23	54586975	Silent	SNP	T	TCGA-61-1907-01A-01W-0639-09	487394	54586975	100683585	106	24141											
BTK	695	genome.wustl.edu	37	X	100617667	100617667	+	Silent	SNP	G	G	A			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chrX:100617667G>A	ENST00000308731.7	-	6	565	c.402C>T	c.(400-402)taC>taT	p.Y134Y	BTK_ENST00000372880.1_Silent_p.Y134Y	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	134					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GATCACTGTTGTACCGGATTA	0.453									Agammaglobulinemia, X-linked																																							0			X	GRCh37	CD002495|CM960199	BTK	D|M							157	146	150					X																	100617667		2203	4300	6503	100504323	SO:0001819	synonymous_variant	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.402C>T	X.37:g.100617667G>A			100504323	B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	CCDS14482.1																																																																																				0.453	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		A	100617667	G	A	100617667	2	1	436	1	0	0	0	0	0	0	0	1	1557	1372	48	2		2	BTK	23	100617667	Silent	SNP	G	TCGA-61-1907-01A-01W-0639-09	46030692	100617667	54652893	107	24142											
ODZ1	10178	genome.wustl.edu	37	X	123518149	123518149	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1907-01A-01W-0639-09	TCGA-61-1907-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7c50e035-7786-4766-b151-7915a077be43	9c90329c-f516-46bc-b797-cc2ef0003ff5	g.chrX:123518149C>G	ENST00000371130.3	-	29	6674	c.6611G>C	c.(6610-6612)aGa>aCa	p.R2204T	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.R2211T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2204					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTCTCCTAATCTGGTGATGCG	0.428																																																0			X											85	80	82					X																	123518149		2203	4300	6503	123345830	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6611G>C	X.37:g.123518149C>G	ENSP00000360171:p.Arg2204Thr		123345830	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776010	0.70107	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86030	-2.06;-2.03	5.79	5.79	0.91817	.	0.048436	0.85682	D	0.000000	D	0.87224	0.6124	M	0.71206	2.165	0.58432	D	0.999999	P;P;D	0.54772	0.915;0.915;0.968	B;B;P	0.46110	0.395;0.321;0.504	D	0.87163	0.2216	10	0.41790	T	0.15	.	18.9778	0.92745	0.0:1.0:0.0:0.0	.	2210;2211;2204	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	2204;2211	ENSP00000360171:R2204T;ENSP00000403954:R2211T	ENSP00000360171:R2204T	R	-	2	0	ODZ1	123345830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.919000	0.63383	2.430000	0.82344	0.544000	0.68410	AGA		0.428	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		G	123518149	C	G	123518149	3	3	436	1	0	0	0	0	1	0	0	0	10834	913	32	3	1578	3	ODZ1	23	123518149	Missense_Mutation	SNP	C	TCGA-61-1907-01A-01W-0639-09	22900482	123518149	31752411	108	24143											
PDPN	10630	genome.wustl.edu	37	1	13910532	13910532	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:13910532T>A	ENST00000294489.6	+	1	573	c.232T>A	c.(232-234)Tgg>Agg	p.W78R	PDPN_ENST00000513143.1_5'Flank|PDPN_ENST00000509009.1_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000376057.4_Missense_Mutation_p.W78R|PDPN_ENST00000487038.1_5'Flank|PDPN_ENST00000376061.4_5'Flank					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GGGAACGATGTGGAAGGTGTC	0.597																																																0			1											50	39	42					1																	13910532		2200	4294	6494	13783119	SO:0001583	missense	10630			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.232T>A	1.37:g.13910532T>A	ENSP00000294489:p.Trp78Arg		13783119		Missense_Mutation	SNP	ENST00000294489.6	37	CCDS30602.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.381397	0.24944	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906	T;T;T	0.54279	0.58;0.58;0.58	4.93	2.58	0.30949	.	0.403701	0.24296	N	0.039765	T	0.63698	0.2533	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	T	0.61598	-0.7030	10	0.87932	D	0	-9.8365	6.7472	0.23468	0.0:0.1892:0.0:0.8108	.	78;78	Q86YL7-3;Q86YL7-4	.;.	R	78;78;69	ENSP00000294489:W78R;ENSP00000365225:W78R;ENSP00000426302:W69R	ENSP00000294489:W78R	W	+	1	0	PDPN	13783119	1.000000	0.71417	0.993000	0.49108	0.195000	0.23768	1.674000	0.37544	0.312000	0.23038	0.460000	0.39030	TGG		0.597	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474		A	13910532	T	A	13910532	3	1	437	1	0	0	0	0	1	0	0	0	11688	1696	59	5	234	5	PDPN	1	13910532	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09		13910532	235340089	1	24144											
MKNK1	8569	genome.wustl.edu	37	1	47040634	47040634	+	Missense_Mutation	SNP	C	C	G	rs578193339		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:47040634C>G	ENST00000371946.4	-	6	536	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	MKNK1_ENST00000545730.1_Missense_Mutation_p.E125Q|MKNK1_ENST00000341183.5_Missense_Mutation_p.E125Q|MKNK1_ENST00000371944.4_Intron|MKNK1_ENST00000428112.2_Missense_Mutation_p.E125Q|MKNK1_ENST00000371945.4_Missense_Mutation_p.E125Q	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TGCAATTTCTCAAAGACCAAG	0.418																																																0			1											88	76	80					1																	47040634		2203	4300	6503	46813221	SO:0001583	missense	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.373G>C	1.37:g.47040634C>G	ENSP00000361014:p.Glu125Gln		46813221	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	CCDS538.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940183	0.73557	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000341183;ENST00000428112;ENST00000532783;ENST00000496619;ENST00000528237;ENST00000545730	T;T;T;T;T;T;T;T	0.64618	1.08;1.08;1.08;1.08;-0.11;0.66;-0.11;2.27	6.01	6.01	0.97437	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.090883	0.85682	D	0.000000	D	0.83041	0.5168	M	0.89030	3	0.80722	D	1	D;D;D;P;D	0.63880	0.983;0.993;0.991;0.898;0.981	P;D;D;P;D	0.77557	0.831;0.99;0.982;0.857;0.944	D	0.83475	0.0061	10	0.48119	T	0.1	-10.4413	19.0747	0.93156	0.0:1.0:0.0:0.0	.	125;125;125;125;125	B4E1V9;A8K341;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.;.;.;.;MKNK1_HUMAN	Q	125;125;125;125;113;125;119;125	ENSP00000361014:E125Q;ENSP00000361013:E125Q;ENSP00000339573:E125Q;ENSP00000411135:E125Q;ENSP00000431837:E113Q;ENSP00000436709:E125Q;ENSP00000432665:E119Q;ENSP00000440974:E125Q	ENSP00000339573:E125Q	E	-	1	0	MKNK1	46813221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.495000	0.81514	2.851000	0.98039	0.609000	0.83330	GAG		0.418	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		G	47040634	C	G	47040634	3	3	437	1	0	0	0	0	1	0	0	0	9604	835	29	3	1060	3	MKNK1	1	47040634	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	33130102	47040634	202209987	2	24145											
CLCA1	1179	genome.wustl.edu	37	1	86954814	86954814	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:86954814T>G	ENST00000234701.3	+	9	1669	c.1318T>G	c.(1318-1320)Tct>Gct	p.S440A	CLCA1_ENST00000394711.1_Missense_Mutation_p.S440A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	440	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTTGGGGCCCTCTGCAGCTCA	0.512																																																0			1											69	69	69					1																	86954814		2203	4300	6503	86727402	SO:0001583	missense	1179				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1318T>G	1.37:g.86954814T>G	ENSP00000234701:p.Ser440Ala		86727402	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	T	8.397	0.840959	0.16891	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.15017	2.46;2.46	5.68	4.53	0.55603	von Willebrand factor, type A (3);	0.327053	0.29021	N	0.013390	T	0.04092	0.0114	L	0.36672	1.1	0.20563	N	0.999885	B;B	0.06786	0.001;0.001	B;B	0.20577	0.03;0.023	T	0.35574	-0.9783	10	0.37606	T	0.19	-16.22	3.3976	0.07311	0.1366:0.0732:0.1428:0.6474	.	440;203	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	A	440;440;153	ENSP00000234701:S440A;ENSP00000378200:S440A	ENSP00000234701:S440A	S	+	1	0	CLCA1	86727402	0.000000	0.05858	0.987000	0.45799	0.149000	0.21700	0.297000	0.19101	0.936000	0.37367	0.533000	0.62120	TCT		0.512	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		G	86954814	T	G	86954814	3	3	437	1	0	0	0	0	1	0	0	0	3457	1551	54	5	1348	5	CLCA1	1	86954814	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	39914180	86954814	162295807	3	24146											
SH3GLB1	51100	genome.wustl.edu	37	1	87185210	87185210	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:87185210G>C	ENST00000370558.4	+	3	559	c.235G>C	c.(235-237)Gtt>Ctt	p.V79L	SH3GLB1_ENST00000535010.1_5'UTR|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.V79L	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	79	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AGAAGAATTTGTTTATGAGAA	0.373																																																0			1											58	62	60					1																	87185210		2203	4299	6502	86957798	SO:0001583	missense	51100			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.235G>C	1.37:g.87185210G>C	ENSP00000473267:p.Val79Leu		86957798	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	CCDS710.1	.	.	.	.	.	.	.	.	.	.	G	5.762	0.325002	0.10900	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.64803	-0.12	5.95	5.95	0.96441	BAR (3);	0.112392	0.64402	D	0.000014	T	0.17789	0.0427	N	0.01576	-0.805	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.15052	0.012;0.006	T	0.30534	-0.9975	10	0.08381	T	0.77	.	16.6401	0.85069	0.0:0.0:0.8696:0.1303	.	79;79	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	L	79	ENSP00000418744:V79L	ENSP00000212369:V79L	V	+	1	0	SH3GLB1	86957798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.672000	0.54583	2.817000	0.96982	0.563000	0.77884	GTT		0.373	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		C	87185210	G	C	87185210	3	2	437	1	0	0	0	0	1	0	0	0	14256	1377	48	3	245	3	SH3GLB1	1	87185210	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	230396	87185210	162065411	4	24147											
GBP6	163351	genome.wustl.edu	37	1	89846078	89846078	+	Silent	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:89846078A>T	ENST00000370456.4	+	6	852	c.759A>T	c.(757-759)tcA>tcT	p.S253S	GBP6_ENST00000535065.1_Silent_p.S123S	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	253	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGAAGGTGTCAGAAAAGCAAC	0.448																																																0			1											77	73	75					1																	89846078		2203	4300	6503	89618666	SO:0001819	synonymous_variant	163351			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.759A>T	1.37:g.89846078A>T			89618666	A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	ENST00000370456.4	37	CCDS723.1																																																																																				0.448	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		T	89846078	A	T	89846078	2	4	437	1	0	0	0	0	0	0	0	1	6278	175	7	5		5	GBP6	1	89846078	Silent	SNP	A	TCGA-61-1910-01A-01W-0639-09	2660868	89846078	159404543	5	24148											
HIAT1	64645	genome.wustl.edu	37	1	100534077	100534077	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:100534077A>T	ENST00000370152.3	+	7	890	c.754A>T	c.(754-756)Aca>Tca	p.T252S	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	252					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GATCTGCATTACAGTGTTTCT	0.393																																																0			1											162	157	159					1																	100534077		2203	4300	6503	100306665	SO:0001583	missense	64645			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.754A>T	1.37:g.100534077A>T	ENSP00000359171:p.Thr252Ser		100306665	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	CCDS763.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937894	0.73557	.	.	ENSG00000156875	ENST00000370152	T	0.57752	0.38	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.85630	2.765	0.80722	D	1	P	0.47910	0.902	P	0.56163	0.793	T	0.63305	-0.6667	10	0.25106	T	0.35	-30.0086	16.3797	0.83452	1.0:0.0:0.0:0.0	.	252	Q96MC6	HIAT1_HUMAN	S	252	ENSP00000359171:T252S	ENSP00000359171:T252S	T	+	1	0	HIAT1	100306665	1.000000	0.71417	0.930000	0.37139	0.251000	0.25915	9.339000	0.96797	2.271000	0.75665	0.533000	0.62120	ACA		0.393	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		T	100534077	A	T	100534077	3	4	437	1	0	0	0	0	1	0	0	0	7097	391	14	5	780	5	HIAT1	1	100534077	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	10687999	100534077	148716544	6	24149											
RFX5	5993	genome.wustl.edu	37	1	151315400	151315400	+	Silent	SNP	G	G	A	rs377016578		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:151315400G>A	ENST00000290524.4	-	11	1291	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	RFX5_ENST00000452513.2_Silent_p.A331A|RFX5_ENST00000368870.2_Silent_p.A371A|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Silent_p.A371A|RFX5_ENST00000478564.1_5'Flank	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	371					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGGTGCCCCGGCCCTACTAG	0.592																																																0			1						G	,	0,4406		0,0,2203	47	56	53		1113,1113	-4.7	0.9	1		53	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	RFX5	NM_000449.3,NM_001025603.1	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	371/617,371/617	151315400	1,13003	2203	4299	6502	149582024	SO:0001819	synonymous_variant	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1113C>T	1.37:g.151315400G>A			149582024	B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	CCDS994.1																																																																																				0.592	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		A	151315400	G	A	151315400	2	1	437	1	0	0	0	0	0	0	0	1	13269	1103	39	1		1	RFX5	1	151315400	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	50781323	151315400	97935221	7	24150											
ETV3L	440695	genome.wustl.edu	37	1	157067661	157067661	+	Splice_Site	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:157067661G>A	ENST00000454449.2	-	4	890	c.606C>T	c.(604-606)taC>taT	p.Y202Y		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	202					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AGCACTCACGGTAGACGCTGC	0.637																																																0			1											106	108	107					1																	157067661		2203	4300	6503	155334285	SO:0001630	splice_region_variant	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.607+1C>T	1.37:g.157067661G>A			155334285		Silent	SNP	ENST00000454449.2	37	CCDS30893.1																																																																																				0.637	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341	Silent	A	157067661	G	A	157067661	5	1	437	1	0	0	0	0	0	0	1	0	5280	1275	44	2	487	2	ETV3L	1	157067661	Splice_Site	SNP	G	TCGA-61-1910-01A-01W-0639-09	5752261	157067661	92182960	8	24151											
TNFSF18	8995	genome.wustl.edu	37	1	173010755	173010755	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:173010755A>C	ENST00000404377.3	-	3	352	c.352T>G	c.(352-354)Tta>Gta	p.L118V	TNFSF18_ENST00000239468.2_Missense_Mutation_p.L96V|RP1-15D23.2_ENST00000432694.2_lincRNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	118					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						CCATAAATTAAATATAAGCCA	0.408																																																0			1											120	126	124					1																	173010755		2203	4299	6502	171277378	SO:0001583	missense	8995			AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"Tumor necrosis factor (ligand) superfamily"	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.352T>G	1.37:g.173010755A>C	ENSP00000385470:p.Leu118Val		171277378	A9IQG8|O95852|Q6ISV1	Missense_Mutation	SNP	ENST00000404377.3	37	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	A	10.18	1.277993	0.23307	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	D;D	0.95171	-3.63;-3.63	5.37	-5.51	0.02568	Tumour necrosis factor (1);Tumour necrosis factor-like (2);	0.893166	0.09263	N	0.826317	T	0.81866	0.4913	L	0.53249	1.67	0.09310	N	1	B	0.23735	0.09	B	0.28011	0.085	T	0.71431	-0.4595	10	0.87932	D	0	0.0223	0.1628	0.00105	0.2393:0.2399:0.236:0.2848	.	118	Q9UNG2	TNF18_HUMAN	V	118;96	ENSP00000385470:L118V;ENSP00000239468:L96V	ENSP00000239468:L96V	L	-	1	2	TNFSF18	171277378	0.215000	0.23574	0.003000	0.11579	0.280000	0.26924	-0.406000	0.07187	-0.945000	0.03681	-0.256000	0.11100	TTA		0.408	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		C	173010755	A	C	173010755	3	2	437	1	0	0	0	0	1	0	0	0	16309	11	1	5	251	5	TNFSF18	1	173010755	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	15943094	173010755	76239866	9	24152											
KIAA1614	57710	genome.wustl.edu	37	1	180885527	180885527	+	Silent	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:180885527G>T	ENST00000367588.4	+	2	343	c.288G>T	c.(286-288)gtG>gtT	p.V96V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	96										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGATGACAGTGGCCAAACAGG	0.607																																																0			1											73	81	78					1																	180885527		2017	4176	6193	179152150	SO:0001819	synonymous_variant	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.288G>T	1.37:g.180885527G>T			179152150	Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	CCDS41442.1																																																																																				0.607	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180885527	G	T	180885527	2	4	437	1	0	0	0	0	0	0	0	1	8248	1335	47	3		3	KIAA1614	1	180885527	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	7874772	180885527	68365094	10	24153											
SMG7	9887	genome.wustl.edu	37	1	183506328	183506328	+	Silent	SNP	A	A	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:183506328A>G	ENST00000347615.2	+	11	1331	c.1212A>G	c.(1210-1212)gaA>gaG	p.E404E	SMG7_ENST00000515829.2_Silent_p.E404E|SMG7_ENST00000508461.1_Silent_p.E362E|SMG7_ENST00000507469.1_Silent_p.E404E|SMG7_ENST00000367537.3_Silent_p.E433E|SMG7_ENST00000456731.2_Silent_p.E362E	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	404					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATCCCCATGAAGAGGACCTCT	0.393																																																0			1											157	140	146					1																	183506328		2203	4300	6503	181772951	SO:0001819	synonymous_variant	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1212A>G	1.37:g.183506328A>G			181772951	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	CCDS1355.1																																																																																				0.393	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		G	183506328	A	G	183506328	2	3	437	1	0	0	0	0	0	0	0	1	14801	69	3	4		4	SMG7	1	183506328	Silent	SNP	A	TCGA-61-1910-01A-01W-0639-09	2620801	183506328	65744293	11	24154											
CFH	3075	genome.wustl.edu	37	1	196646645	196646645	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:196646645A>T	ENST00000367429.4	+	5	707	c.467A>T	c.(466-468)aAa>aTa	p.K156I	CFH_ENST00000359637.2_Intron|CFH_ENST00000439155.2_Missense_Mutation_p.K156I	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	156	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGAATGGAAAAATTGTCAGT	0.353																																																0			1											144	131	135					1																	196646645		2203	4300	6503	194913268	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.467A>T	1.37:g.196646645A>T	ENSP00000356399:p.Lys156Ile		194913268	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843146	0.32606	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986	T;T	0.65364	-0.15;-0.15	5.1	-5.62	0.02481	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.48409	0.1498	L	0.31207	0.915	0.09310	N	1	P;B;D	0.56287	0.465;0.156;0.975	B;B;P	0.48166	0.096;0.072;0.569	T	0.49513	-0.8932	9	0.37606	T	0.19	.	7.4066	0.26993	0.6177:0.0:0.2584:0.1239	.	156;156;156	P08603-2;P08603;F8WDX4	.;CFAH_HUMAN;.	I	156	ENSP00000356399:K156I;ENSP00000402656:K156I	ENSP00000356399:K156I	K	+	2	0	CFH	194913268	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.682000	0.05185	-0.708000	0.05015	-0.415000	0.06103	AAA		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		T	196646645	A	T	196646645	3	4	437	1	0	0	0	0	1	0	0	0	3283	14	1	5	485	5	CFH	1	196646645	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	13140317	196646645	52603976	12	24155											
RYR2	6262	genome.wustl.edu	37	1	237780703	237780703	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:237780703A>T	ENST00000366574.2	+	38	6150	c.5833A>T	c.(5833-5835)Aac>Tac	p.N1945Y	RYR2_ENST00000542537.1_Missense_Mutation_p.N1929Y|RYR2_ENST00000360064.6_Missense_Mutation_p.N1943Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1945	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCCGATACAACGAAGTCAT	0.458																																																0			1											103	96	98					1																	237780703		1997	4198	6195	235847326	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5833A>T	1.37:g.237780703A>T	ENSP00000355533:p.Asn1945Tyr		235847326	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702539	0.68501	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74002	-0.8;-0.8;-0.8	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000002	T	0.82098	0.4963	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	P	0.62089	0.898	T	0.82579	-0.0387	10	0.46703	T	0.11	.	15.4156	0.74966	1.0:0.0:0.0:0.0	.	1945	Q92736	RYR2_HUMAN	Y	1945;1943;1929	ENSP00000355533:N1945Y;ENSP00000353174:N1943Y;ENSP00000443798:N1929Y	ENSP00000353174:N1943Y	N	+	1	0	RYR2	235847326	1.000000	0.71417	0.679000	0.29978	0.944000	0.59088	9.287000	0.95975	2.036000	0.60181	0.528000	0.53228	AAC		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237780703	A	T	237780703	3	4	437	1	0	0	0	0	1	0	0	0	13772	130	5	5	5983	5	RYR2	1	237780703	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	41134058	237780703	11469918	13	24156											
PLD5	200150	genome.wustl.edu	37	1	242253391	242253391	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:242253391T>C	ENST00000536534.2	-	10	1617	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	PLD5_ENST00000427495.1_Missense_Mutation_p.N397S|PLD5_ENST00000442594.2_Missense_Mutation_p.N367S			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	459	PLD phosphodiesterase 2.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGTGAAATCATTCCCTACCCA	0.398																																																0			1											109	105	106					1																	242253391		2203	4300	6503	240320014	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1376A>G	1.37:g.242253391T>C	ENSP00000440896:p.Asn459Ser		240320014	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489793	0.26686	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.20598	2.06;2.06;2.06	5.77	5.77	0.91146	Phospholipase D/Transphosphatidylase (1);	0.049461	0.85682	D	0.000000	T	0.14657	0.0354	N	0.24115	0.695	0.36972	D	0.893898	B;B;B	0.24823	0.112;0.08;0.112	B;B;B	0.22601	0.04;0.015;0.029	T	0.14364	-1.0475	10	0.35671	T	0.21	-30.266	11.0619	0.47953	0.0:0.0:0.1548:0.8451	.	367;459;397	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	S	397;367;459	ENSP00000401285:N397S;ENSP00000414188:N367S;ENSP00000440896:N459S	ENSP00000401285:N397S	N	-	2	0	PLD5	240320014	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.848000	0.55903	2.199000	0.70637	0.533000	0.62120	AAT		0.398	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		C	242253391	T	C	242253391	3	2	437	1	0	0	0	0	1	0	0	0	12049	1493	52	4	238	4	PLD5	1	242253391	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	4472688	242253391	6997230	14	24157											
CNST	163882	genome.wustl.edu	37	1	246784865	246784865	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr1:246784865T>C	ENST00000366513.4	+	3	783	c.514T>C	c.(514-516)Tct>Cct	p.S172P	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.S172P	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	172					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGTTCTGCAGTCTCTGTTTTC	0.453																																																0			1											204	201	202					1																	246784865		2203	4300	6503	244851488	SO:0001583	missense	163882			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.514T>C	1.37:g.246784865T>C	ENSP00000355470:p.Ser172Pro		244851488	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326515	0.24080	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.24538	1.85;1.85	5.46	-0.543	0.11851	.	0.417567	0.23762	N	0.044806	T	0.12902	0.0313	N	0.21142	0.635	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.006	T	0.14117	-1.0484	10	0.37606	T	0.19	-18.4946	4.5269	0.11986	0.0:0.2127:0.3071:0.4801	.	172;172	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	P	172	ENSP00000355470:S172P;ENSP00000355469:S172P	ENSP00000355469:S172P	S	+	1	0	CNST	244851488	0.930000	0.31532	0.003000	0.11579	0.672000	0.39443	0.783000	0.26802	-0.349000	0.08274	0.533000	0.62120	TCT		0.453	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		C	246784865	T	C	246784865	3	2	437	1	0	0	0	0	1	0	0	0	3634	1667	58	4	520	4	CNST	1	246784865	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	4531474	246784865	2465756	15	24158											
MBD5	55777	genome.wustl.edu	37	2	149260043	149260043	+	Silent	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr2:149260043G>A	ENST00000407073.1	+	13	5299	c.4302G>A	c.(4300-4302)ttG>ttA	p.L1434L	MBD5_ENST00000404807.1_Silent_p.L1667L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1434	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGAAGGTTTGGAAGCCTACA	0.398																																																0			2											59	59	59					2																	149260043		2203	4300	6503	148976513	SO:0001819	synonymous_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4302G>A	2.37:g.149260043G>A			148976513	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175943	0.21704	.	.	ENSG00000204406	ENST00000416015	.	.	.	5.93	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.056	8.7284	0.34483	0.5106:0.0:0.4894:0.0	.	.	.	.	X	1004	.	.	W	+	2	0	MBD5	148976513	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.507000	0.22675	0.686000	0.31488	0.655000	0.94253	TGG		0.398	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			A	149260043	G	A	149260043	2	1	437	1	0	0	0	0	0	0	0	1	9347	1339	47	2		2	MBD5	2	149260043	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09		149260043	93939330	16	24159											
TTN	7273	genome.wustl.edu	37	2	179397416	179397416	+	Silent	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr2:179397416A>T	ENST00000591111.1	-	308	99227	c.99003T>A	c.(99001-99003)ccT>ccA	p.P33001P	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.P25702P|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342175.6_Silent_p.P25769P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.P34642P|TTN_ENST00000460472.2_Silent_p.P25577P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.P32074P			Q8WZ42	TITIN_HUMAN	titin	33001					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCATAATCAGGAGAAGGTG	0.443																																																0			2											64	62	63					2																	179397416		1923	4121	6044	179105662	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99003T>A	2.37:g.179397416A>T			179105662	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179397416	A	T	179397416	2	4	437	1	0	0	0	0	0	0	0	1	16735	175	7	5		5	TTN	2	179397416	Silent	SNP	A	TCGA-61-1910-01A-01W-0639-09	30137373	179397416	63801957	17	24160											
TTN	7273	genome.wustl.edu	37	2	179654828	179654828	+	Silent	SNP	A	A	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr2:179654828A>G	ENST00000591111.1	-	12	2039	c.1815T>C	c.(1813-1815)acT>acC	p.T605T	TTN_ENST00000360870.5_Silent_p.T605T|TTN_ENST00000359218.5_Silent_p.T559T|TTN_ENST00000342175.6_Silent_p.T559T|TTN_ENST00000589042.1_Silent_p.T605T|TTN_ENST00000460472.2_Silent_p.T559T|TTN_ENST00000342992.6_Silent_p.T605T			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTTTCCTAGTTTCCTTCA	0.323																																																0			2											189	171	177					2																	179654828		2203	4299	6502	179363073	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1815T>C	2.37:g.179654828A>G			179363073	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179654828	A	G	179654828	2	3	437	1	0	0	0	0	0	0	0	1	16735	407	15	4		4	TTN	2	179654828	Silent	SNP	A	TCGA-61-1910-01A-01W-0639-09	257412	179654828	63544545	18	24161											
MYO1B	4430	genome.wustl.edu	37	2	192267427	192267427	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr2:192267427T>A	ENST00000392318.3	+	24	2786	c.2539T>A	c.(2539-2541)Tac>Aac	p.Y847N	MYO1B_ENST00000392316.1_Missense_Mutation_p.Y818N|MYO1B_ENST00000304164.4_Missense_Mutation_p.Y847N|MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000439065.2_Missense_Mutation_p.Y92N	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	847	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CATTTGGGCTTACTGGCTTGG	0.428																																																0			2											169	137	147					2																	192267427		1568	3582	5150	191975672	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2539T>A	2.37:g.192267427T>A	ENSP00000376132:p.Tyr847Asn		191975672	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.068890	0.55539	.	.	ENSG00000128641	ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	D;D;T;T	0.87103	-2.21;-2.21;-0.55;-0.55	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	N	0.08118	0	0.51482	D	0.999927	P;P	0.47409	0.895;0.718	B;B	0.40602	0.334;0.216	T	0.76849	-0.2807	10	0.27785	T	0.31	.	14.5673	0.68185	0.0:0.0:0.0:1.0	.	92;847	E7EPB4;O43795	.;MYO1B_HUMAN	N	847;847;818;92	ENSP00000376132:Y847N;ENSP00000306382:Y847N;ENSP00000376130:Y818N;ENSP00000391442:Y92N	ENSP00000306382:Y847N	Y	+	1	0	MYO1B	191975672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.600000	0.67599	2.180000	0.69256	0.459000	0.35465	TAC		0.428	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		A	192267427	T	A	192267427	3	1	437	1	0	0	0	0	1	0	0	0	10069	1754	61	5	2629	5	MYO1B	2	192267427	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	12612599	192267427	50931946	19	24162											
SATB2	23314	genome.wustl.edu	37	2	200137015	200137015	+	Silent	SNP	G	G	A	rs141424911	byFrequency	TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr2:200137015G>A	ENST00000417098.1	-	11	2937	c.2121C>T	c.(2119-2121)tcC>tcT	p.S707S	SATB2_ENST00000443023.1_Silent_p.S648S|SATB2_ENST00000260926.5_Silent_p.S707S|SATB2_ENST00000457245.1_Silent_p.S707S|SATB2_ENST00000428695.1_Silent_p.S589S	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	707					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACATCTCCTCGGAGCCTTCCT	0.537													G|||	2	0.000399361	0.0015	0	5008	,	,		16725	0		0	False		,,,				2504	0				Colon(30;262 767 11040 24421 36230)											0			2						G	,,	7,4399	14.3+/-33.2	0,7,2196	124	116	119		2121,2121,2121	-11.3	0.6	2	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SATB2	NM_001172509.1,NM_001172517.1,NM_015265.3	,,	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	,,	707/734,707/734,707/734	200137015	8,12998	2203	4300	6503	199845260	SO:0001819	synonymous_variant	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2121C>T	2.37:g.200137015G>A			199845260	A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	CCDS2327.1																																																																																				0.537	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		A	200137015	G	A	200137015	2	1	437	1	0	0	0	0	0	0	0	1	13857	1103	39	1		1	SATB2	2	200137015	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	7869588	200137015	43062358	20	24163											
STK16	8576	genome.wustl.edu	37	2	220112996	220112996	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr2:220112996C>G	ENST00000409638.3	+	7	911	c.739C>G	c.(739-741)Ctt>Gtt	p.L247V	GLB1L_ENST00000392089.2_5'Flank|TUBA4A_ENST00000498660.1_5'Flank|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409516.3_Missense_Mutation_p.L129V|STK16_ENST00000396738.2_Missense_Mutation_p.L247V|STK16_ENST00000409743.1_Missense_Mutation_p.L215V|STK16_ENST00000409260.1_Missense_Mutation_p.L292V|GLB1L_ENST00000295759.7_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTGTGGCCCTTGCTGTGCA	0.512																																					Pancreas(34;887 922 17165 36961 39622)											0			2											160	153	155					2																	220112996		2074	4221	6295	219821240	SO:0001583	missense	8576			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.739C>G	2.37:g.220112996C>G	ENSP00000386928:p.Leu247Val		219821240	A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159319	0.57368	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260;ENST00000409743	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.12	4.16	0.48862	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.75447	2.3	0.80722	D	1	D;D;D	0.61697	0.99;0.975;0.987	D;D;D	0.77004	0.989;0.957;0.983	T	0.75866	-0.3166	10	0.66056	D	0.02	-7.591	8.2131	0.31494	0.0:0.7804:0.0:0.2196	.	129;292;247	B4DPS1;B8ZZN3;O75716	.;.;STK16_HUMAN	V	247;247;129;292;215	ENSP00000386928:L247V;ENSP00000379964:L247V;ENSP00000386309:L129V;ENSP00000387156:L292V;ENSP00000386553:L215V	ENSP00000379964:L247V	L	+	1	0	STK16	219821240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.370000	0.52372	2.664000	0.90586	0.655000	0.94253	CTT		0.512	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			G	220112996	C	G	220112996	3	3	437	1	0	0	0	0	1	0	0	0	15291	681	24	3	761	3	STK16	2	220112996	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	19975981	220112996	23086377	21	24164											
PPP1R7	5510	genome.wustl.edu	37	2	242102756	242102756	+	Silent	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr2:242102756C>T	ENST00000234038.6	+	7	1128	c.654C>T	c.(652-654)aaC>aaT	p.N218N	PPP1R7_ENST00000407025.1_Silent_p.N218N|PPP1R7_ENST00000404405.3_Silent_p.N212N|PPP1R7_ENST00000401987.1_Silent_p.N175N|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Silent_p.N175N|PPP1R7_ENST00000402734.1_Silent_p.N159N|PPP1R7_ENST00000406106.3_Silent_p.N218N	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	218					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGGGGAAAAACAAAATTACTA	0.498																																					NSCLC(62;446 1299 5417 11238 27640)											0			2											136	147	144					2																	242102756		2203	4300	6503	241751429	SO:0001819	synonymous_variant	5510			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.654C>T	2.37:g.242102756C>T			241751429	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Silent	SNP	ENST00000234038.6	37	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	C	9.277	1.047216	0.19827	.	.	ENSG00000115685	ENST00000450367	.	.	.	5.03	3.19	0.36642	.	.	.	.	.	T	0.58538	0.2129	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55042	-0.8202	4	.	.	.	-32.3349	8.7585	0.34661	0.0:0.6944:0.0:0.3056	.	.	.	.	I	193	.	.	T	+	2	0	PPP1R7	241751429	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.383000	0.44354	1.245000	0.43885	-0.150000	0.13652	ACA		0.498	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		T	242102756	C	T	242102756	2	4	437	1	0	0	0	0	0	0	0	1	12379	477	17	2		2	PPP1R7	2	242102756	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09	21989760	242102756	1096617	22	24165											
GALNTL2	117248	genome.wustl.edu	37	3	16261470	16261470	+	Silent	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr3:16261470C>A	ENST00000339732.5	+	8	2081	c.1578C>A	c.(1576-1578)atC>atA	p.I526I	GALNT15_ENST00000437509.1_Silent_p.I526I	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	526	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AAGGGGACATCCTGGGCTGTC	0.537																																																0			3											194	181	186					3																	16261470		2203	4300	6503	16236474	SO:0001819	synonymous_variant	117248			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1578C>A	3.37:g.16261470C>A			16236474	A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	CCDS33711.1																																																																																				0.537	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		A	16261470	C	A	16261470	2	1	437	1	0	0	0	0	0	0	0	1	6222	845	30	3		3	GALNTL2	3	16261470	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09		16261470	181760960	23	24166											
NICN1	84276	genome.wustl.edu	37	3	49463718	49463718	+	Silent	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr3:49463718T>A	ENST00000273598.3	-	2	362	c.276A>T	c.(274-276)ggA>ggT	p.G92G	NICN1_ENST00000436744.2_Silent_p.G92G|NICN1_ENST00000422593.1_5'UTR|NICN1-AS1_ENST00000424915.1_RNA	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	92						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACTCCTGGGCTCCCTCCTCAC	0.597																																																0			3											79	68	72					3																	49463718		2203	4300	6503	49438722	SO:0001819	synonymous_variant	84276			AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.276A>T	3.37:g.49463718T>A			49438722	Q8IZQ2	Silent	SNP	ENST00000273598.3	37	CCDS2798.1																																																																																				0.597	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		A	49463718	T	A	49463718	2	1	437	1	0	0	0	0	0	0	0	1	10413	1538	54	5		5	NICN1	3	49463718	Silent	SNP	T	TCGA-61-1910-01A-01W-0639-09	33202248	49463718	148558712	24	24167											
ITIH1	3697	genome.wustl.edu	37	3	52811694	52811694	+	Silent	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr3:52811694C>T	ENST00000273283.2	+	1	87	c.63C>T	c.(61-63)atC>atT	p.I21I	ITIH1_ENST00000537050.1_5'Flank|ITIH1_ENST00000542827.1_Silent_p.I21I|ITIH1_ENST00000540715.1_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	21					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CTCTCCTCATCCTGCAGGCCA	0.607																																																0			3											109	95	99					3																	52811694		2203	4300	6503	52786734	SO:0001819	synonymous_variant	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.63C>T	3.37:g.52811694C>T			52786734	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	CCDS2864.1																																																																																				0.607	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		T	52811694	C	T	52811694	2	4	437	1	0	0	0	0	0	0	0	1	7903	845	30	2		2	ITIH1	3	52811694	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09	3347976	52811694	145210736	25	24168											
ADAMTS9	56999	genome.wustl.edu	37	3	64619529	64619529	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr3:64619529A>C	ENST00000498707.1	-	13	2225	c.1883T>G	c.(1882-1884)gTa>gGa	p.V628G	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V600G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	628	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCTACGTCCTACACAGTATTT	0.413																																																0			3											78	70	73					3																	64619529		2203	4300	6503	64594569	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1883T>G	3.37:g.64619529A>C	ENSP00000418735:p.Val628Gly		64594569	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856627	0.51376	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.03831	3.79;3.79	5.51	1.47	0.22746	.	0.618757	0.15669	N	0.250489	T	0.15392	0.0371	M	0.67569	2.06	0.20196	N	0.999923	D;D;P;D	0.58620	0.963;0.983;0.943;0.963	D;D;P;D	0.65010	0.931;0.927;0.736;0.931	T	0.02781	-1.1111	10	0.87932	D	0	.	10.1493	0.42782	0.7767:0.0:0.2233:0.0	.	600;628;628;628	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	G	600;628	ENSP00000295903:V600G;ENSP00000418735:V628G	ENSP00000295903:V600G	V	-	2	0	ADAMTS9	64594569	0.977000	0.34250	0.006000	0.13384	0.780000	0.44128	5.029000	0.64121	0.407000	0.25591	0.533000	0.62120	GTA		0.413	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			C	64619529	A	C	64619529	3	2	437	1	0	0	0	0	1	0	0	0	273	391	14	5	4032	5	ADAMTS9	3	64619529	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	11807835	64619529	133402901	26	24169											
FXR1	8087	genome.wustl.edu	37	3	180685868	180685869	+	Frame_Shift_Ins	INS	-	-	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr3:180685868_180685869insA	ENST00000357559.4	+	14	1612_1613	c.1228_1229insA	c.(1228-1230)gaafs	p.E410fs	FXR1_ENST00000305586.7_Frame_Shift_Ins_p.E325fs|FXR1_ENST00000468861.1_Frame_Shift_Ins_p.E325fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.E361fs|FXR1_ENST00000445140.2_Frame_Shift_Ins_p.E410fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.E397fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	410					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAACCCCTCTGAAACGGAATCT	0.426																																																0			3																																								182168563	SO:0001589	frameshift_variant	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1231dupA	3.37:g.180685871_180685871dupA	ENSP00000350170:p.Glu410fs		182168562	A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Ins	INS	ENST00000357559.4	37	CCDS3238.1																																																																																				0.426	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			A	180685869	-	A	180685868	7	5	437	1	0	1	1	0	0	0	0	0	6115	1291	45	0	1282	0	FXR1	3	180685868	Frame_Shift_Ins	INS	-	TCGA-61-1910-01A-01W-0639-09	116066339	180685868	17336562	27	24170											
FAM13A	10144	genome.wustl.edu	37	4	89671577	89671577	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr4:89671577C>T	ENST00000264344.5	-	15	2145	c.1938G>A	c.(1936-1938)atG>atA	p.M646I	FAM13A_ENST00000513837.1_Missense_Mutation_p.M292I|FAM13A_ENST00000395002.2_Missense_Mutation_p.M320I|FAM13A_ENST00000511976.1_Missense_Mutation_p.M232I|FAM13A_ENST00000508369.1_Missense_Mutation_p.M320I|FAM13A_ENST00000503556.1_Missense_Mutation_p.M306I	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	646					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AAACATACCTCATGAAAGAAT	0.443																																																0			4											94	92	93					4																	89671577		2203	4300	6503	89890600	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1938G>A	4.37:g.89671577C>T	ENSP00000264344:p.Met646Ile		89890600	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649400	0.47362	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.44083	0.93;2.2;1.51;1.52;1.51;1.51	5.64	5.64	0.86602	.	0.132972	0.64402	D	0.000001	T	0.39306	0.1073	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B;B	0.26483	0.008;0.008;0.008;0.15;0.008;0.008;0.01	B;B;B;B;B;B;B	0.19946	0.006;0.006;0.006;0.027;0.006;0.006;0.005	T	0.15636	-1.0430	10	0.54805	T	0.06	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	292;325;232;646;320;306;320	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	I	320;646;306;232;320;292	ENSP00000378450:M320I;ENSP00000264344:M646I;ENSP00000427189:M306I;ENSP00000421914:M232I;ENSP00000421562:M320I;ENSP00000423252:M292I	ENSP00000264344:M646I	M	-	3	0	FAM13A	89890600	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	5.802000	0.69122	2.937000	0.99478	0.650000	0.86243	ATG		0.443	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			T	89671577	C	T	89671577	3	4	437	1	0	0	0	0	1	0	0	0	5452	826	29	2	1173	2	FAM13A	4	89671577	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09		89671577	101482699	28	24171											
FAT4	79633	genome.wustl.edu	37	4	126240548	126240548	+	Silent	SNP	A	A	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr4:126240548A>G	ENST00000394329.3	+	1	2995	c.2982A>G	c.(2980-2982)ccA>ccG	p.P994P		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	994	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATTCACCAGTGTTTGACC	0.413																																																0			4											117	113	114					4																	126240548		1922	4127	6049	126459998	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2982A>G	4.37:g.126240548A>G			126459998	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126240548	A	G	126240548	2	3	437	1	0	0	0	0	0	0	0	1	5692	175	7	4		4	FAT4	4	126240548	Silent	SNP	A	TCGA-61-1910-01A-01W-0639-09	36568971	126240548	64913728	29	24172											
NPY5R	4889	genome.wustl.edu	37	4	164271769	164271769	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr4:164271769A>G	ENST00000515560.1	+	4	1866	c.344A>G	c.(343-345)cAt>cGt	p.H115R	NPY5R_ENST00000338566.3_Missense_Mutation_p.H115R|NPY5R_ENST00000506953.1_Missense_Mutation_p.H115R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	115					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTCATGTGCCATATTATGCCT	0.373																																					Melanoma(139;1287 1774 9781 19750 25599)											0			4											287	276	280					4																	164271769		2203	4300	6503	164491219	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.344A>G	4.37:g.164271769A>G	ENSP00000423917:p.His115Arg		164491219	Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	A	6.280	0.419766	0.11928	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.70516	-0.49;-0.49;-0.49	5.12	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.095449	0.43416	D	0.000567	T	0.57621	0.2066	L	0.35854	1.095	0.45452	D	0.998426	B	0.22146	0.065	B	0.21360	0.034	T	0.53315	-0.8456	10	0.21540	T	0.41	.	11.4215	0.49985	0.925:0.0:0.075:0.0	.	115	Q15761	NPY5R_HUMAN	R	115	ENSP00000339377:H115R;ENSP00000423917:H115R;ENSP00000423474:H115R	ENSP00000339377:H115R	H	+	2	0	NPY5R	164491219	0.988000	0.35896	0.889000	0.34880	0.881000	0.50899	2.911000	0.48774	2.048000	0.60808	0.482000	0.46254	CAT		0.373	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		G	164271769	A	G	164271769	3	3	437	1	0	0	0	0	1	0	0	0	10610	217	8	4	346	4	NPY5R	4	164271769	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	38031221	164271769	26882507	30	24173											
TUBB4Q	56604	genome.wustl.edu	37	4	190904382	190904382	+	IGR	SNP	A	A	G	rs74346489	byFrequency	TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr4:190904382A>G								FRG1 (20023 upstream) : RNA5SP174 (31910 downstream)																							TTATCTATGCAGAAGGTCTCA	0.532													.|||	144	0.028754	8e-04	0.0216	5008	,	,		24552	0.0446		0.0308	False		,,,				2504	0.0532															0			4						A		40,3740		9,22,1859	17	25	23			0.2	0	4	dbSNP_131	23	407,7673		81,245,3714	no	intergenic				90,267,5573	GG,GA,AA		5.0371,1.0582,3.769			190904382	447,11413	1890	4040	5930	191141376	SO:0001628	intergenic_variant	56604																															4.37:g.190904382A>G			191141376		Missense_Mutation	SNP		37																																																																																				0	0.532									G	190904382	A	G	190904382	1	3	437	0	1	0	0	0	0	0	0	0	16759	188	7	4		4	TUBB4Q	4	190904382	IGR	SNP	A	TCGA-61-1910-01A-01W-0639-09	26632613	190904382	249894	31	24174											
LPCAT1	79888	genome.wustl.edu	37	5	1489912	1489912	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:1489912T>A	ENST00000283415.3	-	4	687	c.555A>T	c.(553-555)aaA>aaT	p.K185N		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	185					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CTTCTACTGTTTTCCTGCGAG	0.512																																																0			5											218	217	217					5																	1489912		2203	4300	6503	1542912	SO:0001583	missense	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.555A>T	5.37:g.1489912T>A	ENSP00000283415:p.Lys185Asn		1542912	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	T	4.223	0.040310	0.08148	.	.	ENSG00000153395	ENST00000283415	D	0.93547	-3.24	4.19	-1.89	0.07689	Phospholipid/glycerol acyltransferase (2);	0.047169	0.85682	D	0.000000	T	0.81221	0.4777	N	0.11651	0.15	0.49483	D	0.99979	B	0.13594	0.008	B	0.17722	0.019	T	0.63800	-0.6555	10	0.11485	T	0.65	-22.9288	9.5358	0.39222	0.0:0.369:0.0:0.631	.	185	Q8NF37	PCAT1_HUMAN	N	185	ENSP00000283415:K185N	ENSP00000283415:K185N	K	-	3	2	LPCAT1	1542912	1.000000	0.71417	0.778000	0.31720	0.636000	0.38137	0.582000	0.23834	-0.236000	0.09753	-0.379000	0.06801	AAA		0.512	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		A	1489912	T	A	1489912	3	1	437	1	0	0	0	0	1	0	0	0	8910	1838	64	5	1093	5	LPCAT1	5	1489912	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09		1489912	179425348	32	24175											
NIPBL	25836	genome.wustl.edu	37	5	37064957	37064957	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:37064957G>A	ENST00000282516.8	+	47	8877	c.8378G>A	c.(8377-8379)cGa>cAa	p.R2793Q		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2793					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGACTTTACGATCCCTGTAT	0.363																																																0			5											55	57	56					5																	37064957		2203	4300	6503	37100714	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8378G>A	5.37:g.37064957G>A	ENSP00000282516:p.Arg2793Gln		37100714	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767355	0.49574	.	.	ENSG00000164190	ENST00000282516	D	0.96885	-4.16	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.96682	0.8917	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.97484	1.0049	10	0.87932	D	0	-7.1816	20.139	0.98050	0.0:0.0:1.0:0.0	.	2793	Q6KC79	NIPBL_HUMAN	Q	2793	ENSP00000282516:R2793Q	ENSP00000282516:R2793Q	R	+	2	0	NIPBL	37100714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.605000	0.82844	2.764000	0.94973	0.655000	0.94253	CGA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		A	37064957	G	A	37064957	3	1	437	1	0	0	0	0	1	0	0	0	10428	1058	37	1	8605	1	NIPBL	5	37064957	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	35575045	37064957	143850303	33	24176											
NUP155	9631	genome.wustl.edu	37	5	37330175	37330175	+	Silent	SNP	T	T	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:37330175T>C	ENST00000231498.3	-	15	1892	c.1689A>G	c.(1687-1689)agA>agG	p.R563R	NUP155_ENST00000513532.1_Silent_p.R563R|NUP155_ENST00000381843.2_Silent_p.R504R|RNU7-75P_ENST00000516071.1_RNA	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	563					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGATACTTCTCTATCACAGG	0.368																																																0			5											63	64	63					5																	37330175		2203	4300	6503	37365932	SO:0001819	synonymous_variant	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1689A>G	5.37:g.37330175T>C			37365932	Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	CCDS3921.1																																																																																				0.368	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		C	37330175	T	C	37330175	2	2	437	1	0	0	0	0	0	0	0	1	10756	1548	54	4		4	NUP155	5	37330175	Silent	SNP	T	TCGA-61-1910-01A-01W-0639-09	265218	37330175	143585085	34	24177											
FST	10468	genome.wustl.edu	37	5	52778710	52778710	+	Splice_Site	SNP	C	C	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:52778710C>G	ENST00000256759.3	+	2	469	c.86C>G	c.(85-87)gCt>gGt	p.A29G	FST_ENST00000396947.3_Splice_Site_p.A29G	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	29					BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CTCTTCACAGCTGGGAACTGC	0.657											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			5											38	35	36					5																	52778710		2203	4300	6503	52814467	SO:0001630	splice_region_variant	10468			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.86-1C>G	5.37:g.52778710C>G		987	52814467	B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707723	0.48412	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947	D;D	0.92699	-3.09;-3.09	4.39	4.39	0.52855	Matrix fibril-associated (1);	0.052089	0.85682	N	0.000000	D	0.89125	0.6626	L	0.48362	1.52	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	D	0.85675	0.1297	10	0.30854	T	0.27	.	16.9399	0.86215	0.0:1.0:0.0:0.0	.	29	P19883	FST_HUMAN	G	29	ENSP00000256759:A29G;ENSP00000380151:A29G	ENSP00000256759:A29G	A	+	2	0	FST	52814467	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.508000	0.67006	1.987000	0.57996	0.491000	0.48974	GCT		0.657	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409	Missense_Mutation	G	52778710	C	G	52778710	5	3	437	1	0	0	0	0	0	0	1	0	6076	811	28	3	92	3	FST	5	52778710	Splice_Site	SNP	C	TCGA-61-1910-01A-01W-0639-09	15448535	52778710	128136550	35	24178											
SV2C	22987	genome.wustl.edu	37	5	75427663	75427663	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:75427663G>T	ENST00000502798.2	+	2	530	c.88G>T	c.(88-90)Gtg>Ttg	p.V30L	SV2C_ENST00000322285.7_Missense_Mutation_p.V30L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	30	Interaction with SYT1. {ECO:0000250}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGTAAAGAAGGTGAATCAAGC	0.473																																																0			5											145	140	142					5																	75427663		1960	4152	6112	75463419	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.88G>T	5.37:g.75427663G>T	ENSP00000423541:p.Val30Leu		75463419	Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642808	0.47153	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.26660	1.72;1.72	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);	0.061993	0.64402	D	0.000005	T	0.24890	0.0604	L	0.50333	1.59	0.39522	D	0.968537	B	0.26512	0.151	B	0.25884	0.064	T	0.03818	-1.1001	10	0.29301	T	0.29	-17.8453	13.2055	0.59793	0.0726:0.0:0.9274:0.0	.	30	Q496J9	SV2C_HUMAN	L	30	ENSP00000423541:V30L;ENSP00000316983:V30L	ENSP00000316983:V30L	V	+	1	0	SV2C	75463419	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	4.276000	0.58933	2.719000	0.93026	0.655000	0.94253	GTG		0.473	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			T	75427663	G	T	75427663	3	4	437	1	0	0	0	0	1	0	0	0	15419	1261	44	3	90	3	SV2C	5	75427663	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	22648953	75427663	105487597	36	24179											
GPR98	84059	genome.wustl.edu	37	5	89925251	89925251	+	Silent	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:89925251A>T	ENST00000405460.2	+	9	1830	c.1734A>T	c.(1732-1734)tcA>tcT	p.S578S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	578					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAAATATATCAAGGAGAAATG	0.388																																																0			5											81	77	78					5																	89925251		1855	4089	5944	89961007	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1734A>T	5.37:g.89925251A>T			89961007	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	4.692	0.128680	0.08981	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.52	-3.1	0.05315	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5148	0.00601	0.2301:0.1521:0.2449:0.3729	.	.	.	.	X	167	.	.	K	+	1	0	GPR98	89961007	0.988000	0.35896	0.624000	0.29186	0.433000	0.31745	0.255000	0.18333	-0.483000	0.06772	-0.909000	0.02823	AAG		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89925251	A	T	89925251	2	4	437	1	0	0	0	0	0	0	0	1	6721	117	5	5		5	GPR98	5	89925251	Silent	SNP	A	TCGA-61-1910-01A-01W-0639-09	14497588	89925251	90990009	37	24180											
SLC12A2	6558	genome.wustl.edu	37	5	127503468	127503468	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:127503468C>T	ENST00000262461.2	+	18	2821	c.2632C>T	c.(2632-2634)Cgt>Tgt	p.R878C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R878C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	878					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TGGTCTTGGTCGTATGAAGCC	0.333																																																0			5											126	125	125					5																	127503468		2203	4300	6503	127531367	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2632C>T	5.37:g.127503468C>T	ENSP00000262461:p.Arg878Cys		127531367	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885466	0.72410	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.91631	-2.88;-2.88	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.96592	0.8888	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.964	D	0.97308	0.9935	10	0.87932	D	0	.	16.8137	0.85727	0.0:1.0:0.0:0.0	.	878;92;878	P55011-3;Q59GB7;P55011	.;.;S12A2_HUMAN	C	878	ENSP00000262461:R878C;ENSP00000340878:R878C	ENSP00000262461:R878C	R	+	1	0	SLC12A2	127531367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.773000	0.47686	2.503000	0.84419	0.591000	0.81541	CGT		0.333	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		T	127503468	C	T	127503468	3	4	437	1	0	0	0	0	1	0	0	0	14386	884	31	1	2702	1	SLC12A2	5	127503468	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	37578217	127503468	53411792	38	24181											
PCDHGA4	56111	genome.wustl.edu	37	5	140736022	140736022	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:140736022A>T	ENST00000571252.1	+	1	1255	c.1255A>T	c.(1255-1257)Aac>Tac	p.N419Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGAATATAACATCACTGT	0.418																																																0			5											58	57	58					5																	140736022		2022	4189	6211	140716206	SO:0001583	missense	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1255A>T	5.37:g.140736022A>T	ENSP00000458570:p.Asn419Tyr		140716206	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.418	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		T	140736022	A	T	140736022	3	4	437	1	0	0	0	0	1	0	0	0	11556	362	13	5	1257	5	PCDHGA4	5	140736022	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	13232554	140736022	40179238	39	24182											
PCDHGB6	56100	genome.wustl.edu	37	5	140789183	140789183	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:140789183G>T	ENST00000520790.1	+	1	1414	c.1414G>T	c.(1414-1416)Gcg>Tcg	p.A472S	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	472	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTCCATTGCGCAAGTGAG	0.587																																																0			5											34	40	38					5																	140789183		2094	4214	6308	140769367	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1414G>T	5.37:g.140789183G>T	ENSP00000428603:p.Ala472Ser		140769367	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	8.342	0.828878	0.16749	.	.	ENSG00000253305	ENST00000520790	T	0.01745	4.66	5.22	2.1	0.27182	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01940	0.0061	L	0.39397	1.21	0.09310	N	1	B;B	0.30889	0.299;0.155	B;B	0.36186	0.219;0.168	T	0.47711	-0.9096	9	0.30854	T	0.27	.	2.508	0.04650	0.0992:0.1453:0.3298:0.4257	.	472;472	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	S	472	ENSP00000428603:A472S	ENSP00000428603:A472S	A	+	1	0	PCDHGB6	140769367	0.000000	0.05858	0.239000	0.24122	0.047000	0.14425	0.034000	0.13776	0.501000	0.28013	0.462000	0.41574	GCG		0.587	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		T	140789183	G	T	140789183	3	4	437	1	0	0	0	0	1	0	0	0	11567	1319	46	3	1416	3	PCDHGB6	5	140789183	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	53161	140789183	40126077	40	24183											
ARHGAP26	23092	genome.wustl.edu	37	5	142273829	142273829	+	Silent	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr5:142273829G>A	ENST00000274498.4	+	6	891	c.513G>A	c.(511-513)cgG>cgA	p.R171R	ARHGAP26_ENST00000378004.3_Silent_p.R171R	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	171					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.R171R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGGTCCGGCAGCATTTCT	0.433																																																1	Substitution - coding silent(1)	large_intestine(1)	5											88	86	86					5																	142273829		2203	4300	6503	142254013	SO:0001819	synonymous_variant	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.513G>A	5.37:g.142273829G>A			142254013	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	CCDS4277.1																																																																																				0.433	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		A	142273829	G	A	142273829	2	1	437	1	0	0	0	0	0	0	0	1	875	1190	42	2		2	ARHGAP26	5	142273829	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	1484646	142273829	38641431	41	24184											
KIAA0319	9856	genome.wustl.edu	37	6	24596166	24596166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr6:24596166C>A	ENST00000378214.3	-	3	1260	c.736G>T	c.(736-738)Gag>Tag	p.E246*	KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.E246*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.E246*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.E201*|KIAA0319_ENST00000535378.1_Nonsense_Mutation_p.E237*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	246					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCAACACCTCTCCTGAAGAT	0.527																																																0			6											107	103	104					6																	24596166		2203	4300	6503	24704145	SO:0001587	stop_gained	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.736G>T	6.37:g.24596166C>A	ENSP00000367459:p.Glu246*		24704145	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Nonsense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501703	0.85176	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	.	.	.	4.09	-0.261	0.12963	.	0.261433	0.26935	N	0.021752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.8664	4.874	0.13648	0.0:0.375:0.2892:0.3358	.	.	.	.	X	246;237;201;246;246	.	ENSP00000367459:E246X	E	-	1	0	KIAA0319	24704145	0.050000	0.20438	0.003000	0.11579	0.028000	0.11728	0.367000	0.20382	0.036000	0.15547	0.609000	0.83330	GAG		0.527	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		A	24596166	C	A	24596166	4	1	437	1	0	0	0	0	0	1	0	0	8168	922	32	3	2558	3	KIAA0319	6	24596166	Nonsense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09		24596166	146518901	42	24185											
BAT2	7916	genome.wustl.edu	37	6	31599160	31599160	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr6:31599160C>T	ENST00000376033.2	+	16	2944	c.2710C>T	c.(2710-2712)Cgc>Tgc	p.R904C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R904C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	904	4 X 57 AA type A repeats.			PARGVGSGGQ -> LPASRSGA (in Ref. 1; AAA35585/AAA35586 and 8; CAA78744). {ECO:0000305}.		cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAAGCCTGCCCGCGGAGTCGG	0.647																																																0			6											24	20	22					6																	31599160		1508	2707	4215	31707139	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2710C>T	6.37:g.31599160C>T	ENSP00000365201:p.Arg904Cys		31707139	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	6.511	0.462439	0.12342	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01854	4.6;4.6	4.93	4.93	0.64822	.	0.271232	0.27072	N	0.021080	T	0.00815	0.0027	N	0.19112	0.55	0.46774	D	0.999199	B	0.16166	0.016	B	0.08055	0.003	T	0.50136	-0.8863	10	0.87932	D	0	-9.0305	7.311	0.26475	0.0:0.8212:0.0:0.1788	.	904	P48634	PRC2A_HUMAN	C	904;893;904;904;129	ENSP00000365175:R904C;ENSP00000365201:R904C	ENSP00000365175:R904C	R	+	1	0	PRRC2A	31707139	0.005000	0.15991	0.925000	0.36789	0.496000	0.33645	0.874000	0.28065	2.566000	0.86566	0.561000	0.74099	CGC		0.647	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		T	31599160	C	T	31599160	3	4	437	1	0	0	0	0	1	0	0	0	1319	652	23	1	2768	1	BAT2	6	31599160	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	7002994	31599160	139515907	43	24186											
HLA-DPA1	3113	genome.wustl.edu	37	6	33036866	33036866	+	Silent	SNP	G	G	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr6:33036866G>C	ENST00000419277.1	-	4	687	c.558C>G	c.(556-558)ccC>ccG	p.P186P	HLA-DPA1_ENST00000428995.1_Silent_p.P186P|HLA-DPA1_ENST00000463066.1_5'Flank	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	186	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCTCTGCTGAGGGCACAAAGG	0.552																																																0			6											210	231	223					6																	33036866		1509	2708	4217	33144844	SO:0001819	synonymous_variant	3113			X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.558C>G	6.37:g.33036866G>C			33144844	A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Silent	SNP	ENST00000419277.1	37	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	G	0.244	-1.011328	0.02095	.	.	ENSG00000231389	ENST00000437811	.	.	.	3.4	2.52	0.30459	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	.	4.7381	0.12999	0.1221:0.0:0.6655:0.2124	.	.	.	.	V	54	.	.	L	-	1	0	HLA-DPA1	33144844	0.549000	0.26481	0.258000	0.24420	0.123000	0.20343	0.694000	0.25512	0.702000	0.31825	0.643000	0.83706	CTC		0.552	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		C	33036866	G	C	33036866	2	2	437	1	0	0	0	0	0	0	0	1	7202	987	35	3		3	HLA-DPA1	6	33036866	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	1437706	33036866	138078201	44	24187											
FAM135A	57579	genome.wustl.edu	37	6	71195924	71195924	+	Intron	SNP	G	G	A	rs369691884		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr6:71195924G>A	ENST00000418814.2	+	10	1437				FAM135A_ENST00000505868.1_Intron|FAM135A_ENST00000370479.3_Missense_Mutation_p.R250Q|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.R250Q|FAM135A_ENST00000505769.1_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A											breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAACAGCTACGAACACAGAAA	0.363																																																0			6						G	,,GLN/ARG	0,4406		0,0,2203	94	85	88		,,749	4.9	0.8	6		88	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	FAM135A	NM_001105531.2,NM_001162529.1,NM_020819.4	,,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,,250/1303	71195924	1,13005	2203	4300	6503	71252645	SO:0001627	intron_variant	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.823+4067G>A	6.37:g.71195924G>A			71252645	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.670786	0.29693	0.0	1.16E-4	ENSG00000082269	ENST00000370479;ENST00000457062	T;T	0.17054	2.3;2.3	5.73	4.86	0.63082	.	.	.	.	.	T	0.04003	0.0112	L	0.29908	0.895	0.19945	N	0.99994	B;P	0.44309	0.349;0.832	B;B	0.34536	0.065;0.185	T	0.29027	-1.0025	9	0.12766	T	0.61	.	15.0068	0.71519	0.0:0.2886:0.7114:0.0	.	24;250	Q5JXJ9;Q9P2D6-3	.;.	Q	250	ENSP00000359510:R250Q;ENSP00000409201:R250Q	ENSP00000359510:R250Q	R	+	2	0	FAM135A	71252645	1.000000	0.71417	0.836000	0.33094	0.926000	0.56050	3.978000	0.56881	1.425000	0.47237	0.650000	0.86243	CGA		0.363	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		A	71195924	G	A	71195924	1	1	437	0	1	0	0	0	0	0	0	0	5448	1058	37	1		1	FAM135A	6	71195924	Intron	SNP	G	TCGA-61-1910-01A-01W-0639-09	38159058	71195924	99919143	45	24188											
PHIP	55023	genome.wustl.edu	37	6	79665394	79665394	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr6:79665394T>A	ENST00000275034.4	-	33	3955	c.3788A>T	c.(3787-3789)cAg>cTg	p.Q1263L	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1263					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATAACAAGTCTGATCCCTACA	0.249																																																0			6											29	32	31					6																	79665394		2161	4243	6404	79722113	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3788A>T	6.37:g.79665394T>A	ENSP00000275034:p.Gln1263Leu		79722113	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811874	0.50527	.	.	ENSG00000146247	ENST00000275034	T	0.43688	0.94	5.48	4.25	0.50352	.	0.000000	0.64402	D	0.000001	T	0.23649	0.0572	M	0.63843	1.955	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08146	-1.0736	9	.	.	.	-8.3535	11.6076	0.51041	0.1329:0.0:0.0:0.8671	.	1263;1263	A7J992;Q8WWQ0	.;PHIP_HUMAN	L	1263	ENSP00000275034:Q1263L	.	Q	-	2	0	PHIP	79722113	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.587000	0.67510	2.212000	0.71576	0.374000	0.22700	CAG		0.249	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			A	79665394	T	A	79665394	3	1	437	1	0	0	0	0	1	0	0	0	11842	1580	55	5	1709	5	PHIP	6	79665394	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	8469470	79665394	91449673	46	24189											
PRKAR1B	5575	genome.wustl.edu	37	7	720328	720364	+	Splice_Site	DEL	TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC	TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC	-	rs147480983|rs183383238|rs374729888|rs370909605|rs140110814|rs150538055|rs530700943|rs371160585|rs143819086	byFrequency	TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC	TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:720328_720364delTGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC	ENST00000406797.1	-	3	352_387	c.178_213delGGAAGAAAACAGGCAGATTTTGGCGCGGCAAAAGTCA	c.(178-213)ggaagaaaacaggcagattttggcgcggcaaaagtcdel	p.GRKQADFGAAKV60fs	PRKAR1B_ENST00000360274.4_Splice_Site_p.GRKQADFGAAKV60fs|PRKAR1B_ENST00000544935.1_Splice_Site_p.GRKQADFGAAKV60fs|PRKAR1B_ENST00000403562.1_Splice_Site_p.GRKQADFGAAKV60fs|PRKAR1B_ENST00000537384.1_Splice_Site_p.GRKQADFGAAKV60fs	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	60	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ACTGTGAGTTTGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCCTGTGTGGGAG	0.608																																																0			7																																								686890	SO:0001630	splice_region_variant	5575			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.178-1GGAAGAAAACAGGCAGATTTTGGCGCGGCAAAAGTCA>-	7.37:g.720328_720364delTGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC			686854	Q8N422	In_Frame_Del	DEL	ENST00000406797.1	37	CCDS34579.1																																																																																				0.608	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1		Frame_Shift_Del	-	720364	TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC	-	720328	8	5	437	1	0	1	0	1	0	0	1	0	12507	1799	63	0	968	0	PRKAR1B	7	720328	Splice_Site	DEL	TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC	TCGA-61-1910-01A-01W-0639-09		720328	158418335	47	24190											
RAMP3	10268	genome.wustl.edu	37	7	45216942	45216942	+	Silent	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:45216942A>T	ENST00000242249.4	+	2	131	c.93A>T	c.(91-93)acA>acT	p.T31T	RAMP3_ENST00000481345.1_Silent_p.T31T|RAMP3_ENST00000496212.1_Silent_p.T31T	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	31					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCAACGAGACAGGCATGTTGG	0.592																																																0			7											150	119	130					7																	45216942		2203	4300	6503	45183467	SO:0001819	synonymous_variant	10268			AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.93A>T	7.37:g.45216942A>T			45183467	Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	CCDS5503.1																																																																																				0.592	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		T	45216942	A	T	45216942	2	4	437	1	0	0	0	0	0	0	0	1	13026	175	7	5		5	RAMP3	7	45216942	Silent	SNP	A	TCGA-61-1910-01A-01W-0639-09	44496614	45216942	113921721	48	24191											
TRRAP	8295	genome.wustl.edu	37	7	98567880	98567880	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:98567880C>G	ENST00000359863.4	+	51	7846	c.7637C>G	c.(7636-7638)cCc>cGc	p.P2546R	TRRAP_ENST00000446306.3_Missense_Mutation_p.P2528R|TRRAP_ENST00000355540.3_Missense_Mutation_p.P2528R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2546					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCAGGAGCCCCGGGAGCGG	0.642																																																0			7											71	71	71					7																	98567880		2203	4300	6503	98405816	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7637C>G	7.37:g.98567880C>G	ENSP00000352925:p.Pro2546Arg		98405816	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.765397|3.765397	0.69878|0.69878	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	T|T;T	0.02974|0.03065	4.09|4.07;4.06	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.07908|0.07908	0.0198|0.0198	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.33583	.|0.418;0.138;0.346	.|B;B;B	.|0.33521	.|0.165;0.074;0.059	T|T	0.06075|0.06075	-1.0847|-1.0847	8|10	0.48119|0.72032	T|D	0.1|0.01	.|.	20.1634|20.1634	0.98142|0.98142	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2528;2267;2546	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	A|R	2268|2546;2528;2527	ENSP00000394645:P2268A|ENSP00000352925:P2546R;ENSP00000347733:P2528R	ENSP00000394645:P2268A|ENSP00000347733:P2528R	P|P	+|+	1|2	0|0	TRRAP|TRRAP	98405816|98405816	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.942000|0.942000	0.58702|0.58702	6.074000|6.074000	0.71253|0.71253	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.642	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		G	98567880	C	G	98567880	3	3	437	1	0	0	0	0	1	0	0	0	16601	623	22	3	7777	3	TRRAP	7	98567880	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	53350938	98567880	60570783	49	24192											
PPP1R3A	5506	genome.wustl.edu	37	7	113558852	113558852	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:113558852G>T	ENST00000284601.3	-	1	268	c.200C>A	c.(199-201)gCt>gAt	p.A67D		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	67					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGGAATCAGCAAATGAAAC	0.423																																																0			7											88	81	83					7																	113558852		2203	4300	6503	113346088	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.200C>A	7.37:g.113558852G>T	ENSP00000284601:p.Ala67Asp		113346088	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455118	0.84209	.	.	ENSG00000154415	ENST00000284601	T	0.49432	0.78	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72978	-0.4127	10	0.87932	D	0	-0.0927	20.8794	0.99867	0.0:0.0:1.0:0.0	.	67	Q16821	PPR3A_HUMAN	D	67	ENSP00000284601:A67D	ENSP00000284601:A67D	A	-	2	0	PPP1R3A	113346088	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.229000	0.95273	2.941000	0.99782	0.655000	0.94253	GCT		0.423	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		T	113558852	G	T	113558852	3	4	437	1	0	0	0	0	1	0	0	0	12374	971	34	3	3184	3	PPP1R3A	7	113558852	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	14990972	113558852	45579811	50	24193											
CTTNBP2	83992	genome.wustl.edu	37	7	117359617	117359617	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:117359617C>A	ENST00000160373.3	-	21	4676	c.4585G>T	c.(4585-4587)Gat>Tat	p.D1529Y		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1529					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTGACAAGATCTGCTTCGTCA	0.433																																																0			7											131	116	121					7																	117359617		2203	4300	6503	117146853	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4585G>T	7.37:g.117359617C>A	ENSP00000160373:p.Asp1529Tyr		117146853	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.436480|4.436480	0.83885|0.83885	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.80214|.	-1.35|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.130549|.	0.64402|.	D|.	0.000002|.	T|T	0.76328|0.76328	0.3972|0.3972	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.74657|0.74657	-0.3592|-0.3592	10|5	0.87932|.	D|.	0|.	-8.0215|-8.0215	19.5918|19.5918	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1529|.	Q8WZ74|.	CTTB2_HUMAN|.	Y|I	1529|1016	ENSP00000160373:D1529Y|.	ENSP00000160373:D1529Y|.	D|R	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117146853|117146853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.683000|6.683000	0.74533|0.74533	2.700000|2.700000	0.92200|0.92200	0.563000|0.563000	0.77884|0.77884	GAT|AGA		0.433	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		A	117359617	C	A	117359617	3	1	437	1	0	0	0	0	1	0	0	0	4045	913	32	3	418	3	CTTNBP2	7	117359617	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	3800765	117359617	41779046	51	24194											
PTPRZ1	5803	genome.wustl.edu	37	7	121650743	121650743	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:121650743C>A	ENST00000393386.2	+	12	2054	c.1643C>A	c.(1642-1644)tCt>tAt	p.S548Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S548Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	548					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTTCTTAGATCTCCACATATG	0.403																																																0			7											67	64	65					7																	121650743		2203	4300	6503	121437979	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1643C>A	7.37:g.121650743C>A	ENSP00000377047:p.Ser548Tyr		121437979	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	0.464	-0.887709	0.02511	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.41758	1.03;0.99	5.81	-6.12	0.02124	.	0.665018	0.14466	N	0.317899	T	0.17831	0.0428	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39683	-0.9602	10	0.02654	T	1	.	8.2038	0.31441	0.6339:0.0668:0.0:0.2993	.	548;548	C9JFM0;P23471	.;PTPRZ_HUMAN	Y	548	ENSP00000377047:S548Y;ENSP00000410000:S548Y	ENSP00000377047:S548Y	S	+	2	0	PTPRZ1	121437979	0.000000	0.05858	0.012000	0.15200	0.881000	0.50899	-0.632000	0.05489	-1.341000	0.02225	-0.953000	0.02652	TCT		0.403	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121650743	C	A	121650743	3	1	437	1	0	0	0	0	1	0	0	0	12817	913	32	3	1689	3	PTPRZ1	7	121650743	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	4291126	121650743	37487920	52	24195											
ADCK2	90956	genome.wustl.edu	37	7	140373432	140373432	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:140373432T>A	ENST00000072869.4	+	1	480	c.302T>A	c.(301-303)cTt>cAt	p.L101H	ADCK2_ENST00000476491.1_Missense_Mutation_p.L101H	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	101						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CGCCTCTGGCTTCGCGCCGGC	0.701																																																0			7											48	55	53					7																	140373432		2203	4300	6503	140019901	SO:0001583	missense	90956			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.302T>A	7.37:g.140373432T>A	ENSP00000072869:p.Leu101His		140019901	Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582312	0.86748	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.49432	0.78;0.78	4.53	3.31	0.37934	.	0.000000	0.64402	D	0.000005	T	0.56529	0.1991	M	0.68952	2.095	0.19300	N	0.99997	D;D	0.61080	0.989;0.989	P;P	0.54965	0.765;0.765	T	0.51180	-0.8738	10	0.87932	D	0	1.7979	10.3652	0.44019	0.1464:0.0:0.0:0.8536	.	101;101	C9JE15;Q7Z695	.;ADCK2_HUMAN	H	101	ENSP00000072869:L101H;ENSP00000420512:L101H	ENSP00000072869:L101H	L	+	2	0	ADCK2	140019901	1.000000	0.71417	0.012000	0.15200	0.276000	0.26787	5.486000	0.66856	1.690000	0.51089	0.459000	0.35465	CTT		0.701	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		A	140373432	T	A	140373432	3	1	437	1	0	0	0	0	1	0	0	0	289	1609	56	5	304	5	ADCK2	7	140373432	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	18722689	140373432	18765231	53	24196											
FAM131B	9715	genome.wustl.edu	37	7	143054049	143054049	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:143054049A>T	ENST00000409408.1	-	6	2301	c.593T>A	c.(592-594)cTg>cAg	p.L198Q	FAM131B_ENST00000443739.2_Missense_Mutation_p.L226Q|FAM131B_ENST00000409346.1_Missense_Mutation_p.L198Q|FAM131B_ENST00000409222.3_Missense_Mutation_p.L198Q|FAM131B_ENST00000409578.1_Missense_Mutation_p.L214Q			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	198										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TGACGACCCCAGACAGTACAT	0.567																																																0			7											58	52	54					7																	143054049		2203	4300	6503	142764171	SO:0001583	missense	9715			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.593T>A	7.37:g.143054049A>T	ENSP00000387017:p.Leu198Gln		142764171	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563420	0.86335	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.74023	0.982;0.961	T	0.33777	-0.9855	10	0.33141	T	0.24	-21.0262	15.5417	0.76057	1.0:0.0:0.0:0.0	.	214;198	Q86XD5-2;Q86XD5	.;F131B_HUMAN	Q	226;214;198;202;198;198	ENSP00000410603:L226Q;ENSP00000386568:L214Q;ENSP00000386984:L198Q;ENSP00000387017:L198Q;ENSP00000387147:L198Q	ENSP00000387147:L198Q	L	-	2	0	FAM131B	142764171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.817000	0.91985	2.072000	0.62099	0.533000	0.62120	CTG		0.567	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		T	143054049	A	T	143054049	3	4	437	1	0	0	0	0	1	0	0	0	5440	188	7	5	409	5	FAM131B	7	143054049	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	2680617	143054049	16084614	54	24197											
FAM115A	9747	genome.wustl.edu	37	7	143573339	143573339	+	Silent	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:143573339G>T	ENST00000479870.1	-	2	571	c.363C>A	c.(361-363)tcC>tcA	p.S121S	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Silent_p.S121S	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	121										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AAACCCCCAGGGAGTCTTTCA	0.517																																																0			7											87	95	92					7																	143573339		2203	4300	6503	143204272	SO:0001819	synonymous_variant	9747			AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.363C>A	7.37:g.143573339G>T			143204272	A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Silent	SNP	ENST00000479870.1	37	CCDS5886.1																																																																																				0.517	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		T	143573339	G	T	143573339	2	4	437	1	0	0	0	0	0	0	0	1	5405	1219	43	3		3	FAM115A	7	143573339	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	519290	143573339	15565324	55	24198											
CTAGE4	100142659	genome.wustl.edu	37	7	143965394	143965394	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:143965394T>A	ENST00000487179.1	-	1	987	c.950A>T	c.(949-951)aAa>aTa	p.K317I	OR2A1-AS1_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA			P0CG41	CTGE8_HUMAN	CTAGE family, member 8	317						integral component of membrane (GO:0016021)											ATGAATCAGTTTCTTCAAAGC	0.353																																																0			7																																								143596327	SO:0001583	missense	0			AK292236	CCDS64791.1	7q35	2014-08-13			ENSG00000244693	ENSG00000244693			37294	protein-coding gene	gene with protein product							Standard	NM_001278507		Approved			P0CG41	OTTHUMG00000158009	ENST00000487179.1:c.950A>T	7.37:g.143965394T>A	ENSP00000417289:p.Lys317Ile		143596327		RNA	SNP	ENST00000487179.1	37		.	.	.	.	.	.	.	.	.	.	-	10.13	1.265973	0.23136	.	.	ENSG00000244693	ENST00000487179	T	0.40225	1.04	.	.	.	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44757	-0.9307	6	0.87932	D	0	.	.	.	.	.	317	P0CG41	CTGE8_HUMAN	I	317	ENSP00000417289:K317I	ENSP00000417289:K317I	K	-	2	0	CTAGE8	143596327	0.984000	0.35163	0.076000	0.20297	0.076000	0.17211	2.194000	0.42668	0.149000	0.19098	0.147000	0.16070	AAA		0.353	CTAGE8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349996.1			A	143965394	T	A	143965394	3	1	437	1	0	0	0	0	1	0	0	0	3993	1841	64	5	3725	5	CTAGE4	7	143965394	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	392055	143965394	15173269	56	24199											
HTR5A	3361	genome.wustl.edu	37	7	154862784	154862784	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr7:154862784C>A	ENST00000287907.2	+	1	751	c.175C>A	c.(175-177)Ctg>Atg	p.L59M	HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.R77M|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.R77M|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	59					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CGCCTGGAACCTGCTGGTGCT	0.652																																																0			7											92	68	76					7																	154862784		2203	4300	6503	154493717	SO:0001583	missense	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.175C>A	7.37:g.154862784C>A	ENSP00000287907:p.Leu59Met		154493717	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.96|15.96	2.986906|2.986906	0.53934|0.53934	.|.	.|.	ENSG00000157219|ENSG00000220575	ENST00000287907|ENST00000395731;ENST00000543018	T|.	0.44482|.	0.92|.	4.44|4.44	0.132|0.132	0.14762|0.14762	GPCR, rhodopsin-like superfamily (1);|.	0.469780|.	0.20293|.	N|.	0.095182|.	T|T	0.44644|0.44644	0.1303|0.1303	L|L	0.55743|0.55743	1.74|1.74	0.47905|0.47905	D|D	0.999543|0.999543	P|B	0.41008|0.21225	0.735|0.053	B|B	0.44224|0.16289	0.444|0.015	T|T	0.42258|0.42258	-0.9462|-0.9462	10|8	0.46703|0.87932	T|D	0.11|0	.|.	2.156|2.156	0.03813|0.03813	0.1334:0.2093:0.4245:0.2327|0.1334:0.2093:0.4245:0.2327	.|.	59|77	P47898|B7Z8E6	5HT5A_HUMAN|.	M|M	59|77	ENSP00000287907:L59M|.	ENSP00000287907:L59M|ENSP00000379080:R77M	L|R	+|-	1|2	2|0	HTR5A|AC093726.4	154493717|154493717	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	0.472000|0.472000	0.22116|0.22116	0.130000|0.130000	0.18549|0.18549	0.467000|0.467000	0.42956|0.42956	CTG|AGG		0.652	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		A	154862784	C	A	154862784	3	1	437	1	0	0	0	0	1	0	0	0	7450	680	24	3	177	3	HTR5A	7	154862784	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	10897390	154862784	4275879	57	24200											
UNC5D	137970	genome.wustl.edu	37	8	35583892	35583892	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr8:35583892C>A	ENST00000404895.2	+	10	1854	c.1526C>A	c.(1525-1527)aCt>aAt	p.T509N	UNC5D_ENST00000287272.2_Missense_Mutation_p.T440N|UNC5D_ENST00000453357.2_Missense_Mutation_p.T504N|UNC5D_ENST00000449677.1_Missense_Mutation_p.T85N|UNC5D_ENST00000416672.1_Missense_Mutation_p.T514N|UNC5D_ENST00000420357.1_Missense_Mutation_p.T442N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	509					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATTCCAGGACTTTTCCCCAT	0.468																																																0			8											97	98	97					8																	35583892		2203	4300	6503	35703434	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1526C>A	8.37:g.35583892C>A	ENSP00000385143:p.Thr509Asn		35703434	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611618	0.46631	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.55234	0.56;0.99;0.98;0.56;0.53;2.41	6.04	6.04	0.98038	.	0.088294	0.85682	D	0.000000	T	0.56262	0.1973	L	0.55743	1.74	0.58432	D	0.999999	D;P;P;P	0.53619	0.961;0.799;0.873;0.799	B;B;B;B	0.43916	0.36;0.252;0.436;0.252	T	0.59413	-0.7459	10	0.62326	D	0.03	-19.3655	20.5948	0.99439	0.0:1.0:0.0:0.0	.	85;514;504;509	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	N	509;442;440;514;504;85	ENSP00000385143:T509N;ENSP00000392739:T442N;ENSP00000287272:T440N;ENSP00000412652:T514N;ENSP00000394303:T504N;ENSP00000397211:T85N	ENSP00000287272:T440N	T	+	2	0	UNC5D	35703434	0.999000	0.42202	0.918000	0.36340	0.058000	0.15608	4.486000	0.60286	2.873000	0.98535	0.563000	0.77884	ACT		0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			A	35583892	C	A	35583892	3	1	437	1	0	0	0	0	1	0	0	0	16995	565	20	3	1564	3	UNC5D	8	35583892	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09		35583892	110780130	58	24201											
PKHD1L1	93035	genome.wustl.edu	37	8	110457211	110457211	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr8:110457211G>C	ENST00000378402.5	+	38	5217	c.5113G>C	c.(5113-5115)Gtg>Ctg	p.V1705L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1705	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTCTATCAGTGAATTATAC	0.453										HNSCC(38;0.096)																																						0			8											190	181	184					8																	110457211		1877	4117	5994	110526387	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5113G>C	8.37:g.110457211G>C	ENSP00000367655:p.Val1705Leu		110526387	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514085	0.44763	.	.	ENSG00000205038	ENST00000378402	T	0.78126	-1.15	6.17	4.39	0.52855	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.637189	0.15664	N	0.250750	T	0.78729	0.4329	L	0.45422	1.42	0.21527	N	0.999659	D	0.56287	0.975	P	0.57548	0.823	T	0.66044	-0.6021	10	0.17369	T	0.5	.	11.1352	0.48370	0.1491:0.0:0.8509:0.0	.	1705	Q86WI1	PKHL1_HUMAN	L	1705	ENSP00000367655:V1705L	ENSP00000367655:V1705L	V	+	1	0	PKHD1L1	110526387	0.974000	0.33945	0.718000	0.30602	0.273000	0.26683	1.657000	0.37366	0.933000	0.37291	0.655000	0.94253	GTG		0.453	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110457211	G	C	110457211	3	2	437	1	0	0	0	0	1	0	0	0	11972	1029	36	3	5263	3	PKHD1L1	8	110457211	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	74873319	110457211	35906811	59	24202											
CYC1	1537	genome.wustl.edu	37	8	145151614	145151614	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr8:145151614C>G	ENST00000318911.4	+	5	812	c.739C>G	c.(739-741)Ccc>Gcc	p.P247A	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	247					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGCCCCTCCCATCTACAC	0.582																																																0			8											61	58	59					8																	145151614		2203	4300	6503	145223602	SO:0001583	missense	1537			BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.739C>G	8.37:g.145151614C>G	ENSP00000317159:p.Pro247Ala		145223602	Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	C	7.633	0.679190	0.14907	.	.	ENSG00000179091	ENST00000318911	T	0.44482	0.92	5.11	4.22	0.49857	Cytochrome c domain (2);	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.55481	1.735	0.54753	D	0.999987	B	0.12013	0.005	B	0.10450	0.005	T	0.14559	-1.0468	10	0.25751	T	0.34	-20.6731	12.6948	0.56997	0.1662:0.8338:0.0:0.0	.	247	P08574	CY1_HUMAN	A	247	ENSP00000317159:P247A	ENSP00000317159:P247A	P	+	1	0	CYC1	145223602	1.000000	0.71417	0.877000	0.34402	0.239000	0.25481	7.383000	0.79741	1.134000	0.42165	-0.314000	0.08810	CCC		0.582	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		G	145151614	C	G	145151614	3	3	437	1	0	0	0	0	1	0	0	0	4135	855	30	3	757	3	CYC1	8	145151614	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	34694403	145151614	1212408	60	24203											
OGN	4969	genome.wustl.edu	37	9	95155465	95155465	+	Silent	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr9:95155465G>A	ENST00000262551.4	-	4	750	c.330C>T	c.(328-330)gaC>gaT	p.D110D	CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'Flank|OGN_ENST00000375561.5_Silent_p.D110D	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	110					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)		p.D110D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						CAGCATCAATGTCAACTTCTT	0.373																																																1	Substitution - coding silent(1)	central_nervous_system(1)	9											137	122	127					9																	95155465		2203	4300	6503	94195286	SO:0001819	synonymous_variant	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	protein-coding gene	gene with protein product	"mimecan proteoglycan"	602383	"osteoglycin (osteoinductive factor)"			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.330C>T	9.37:g.95155465G>A			94195286	Q6FIB0|Q9UF90|Q9UNK5	Silent	SNP	ENST00000262551.4	37	CCDS6695.1																																																																																				0.373	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416		A	95155465	G	A	95155465	2	1	437	1	0	0	0	0	0	0	0	1	10846	1368	48	2		2	OGN	9	95155465	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09		95155465	46057966	61	24204											
WDR31	114987	genome.wustl.edu	37	9	116094296	116094296	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr9:116094296G>T	ENST00000374193.4	-	3	253	c.7C>A	c.(7-9)Cta>Ata	p.L3I	WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.L3I	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	3										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CACCTGAGTAGCAGCATCCCT	0.403																																																0			9											126	108	114					9																	116094296		2203	4300	6503	115134117	SO:0001583	missense	114987			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.7C>A	9.37:g.116094296G>T	ENSP00000363308:p.Leu3Ile		115134117	Q5W0T9|Q96EG8	Missense_Mutation	SNP	ENST00000374193.4	37	CCDS35110.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304083	0.23736	.	.	ENSG00000148225	ENST00000374193;ENST00000341761;ENST00000465979	T;T;T	0.66815	-0.19;-0.23;0.28	5.81	-5.41	0.02648	.	1.697190	0.03095	N	0.160325	T	0.54854	0.1884	L	0.51422	1.61	0.09310	N	0.999998	B;B	0.21905	0.037;0.062	B;B	0.24269	0.023;0.052	T	0.36768	-0.9734	10	0.40728	T	0.16	5.7807	2.8193	0.05467	0.4881:0.2318:0.1713:0.1088	.	3;3	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	I	3	ENSP00000363308:L3I;ENSP00000345027:L3I;ENSP00000419246:L3I	ENSP00000345027:L3I	L	-	1	2	WDR31	115134117	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.201000	0.09464	-0.725000	0.04901	-0.142000	0.14014	CTA		0.403	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		T	116094296	G	T	116094296	3	4	437	1	0	0	0	0	1	0	0	0	17286	962	34	3	1132	3	WDR31	9	116094296	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	20938831	116094296	25119135	62	24205											
PPAPDC3	84814	genome.wustl.edu	37	9	134183659	134183659	+	Silent	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr9:134183659C>A	ENST00000372264.3	+	2	1105	c.801C>A	c.(799-801)ctC>ctA	p.L267L		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	267			L -> V (in dbSNP:rs11244366).		negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GCCAGATGCTCATCTCTGCCT	0.682																																																0			9											19	20	20					9																	134183659		2201	4300	6501	133173480	SO:0001819	synonymous_variant	84814			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.801C>A	9.37:g.134183659C>A			133173480	Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	CCDS6942.1																																																																																				0.682	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		A	134183659	C	A	134183659	2	1	437	1	0	0	0	0	0	0	0	1	12296	813	29	3		3	PPAPDC3	9	134183659	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09	18089363	134183659	7029772	63	24206											
RALGDS	5900	genome.wustl.edu	37	9	135979137	135979137	+	Silent	SNP	C	C	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr9:135979137C>G	ENST00000372050.3	-	11	1776	c.1755G>C	c.(1753-1755)ctG>ctC	p.L585L	RALGDS_ENST00000393160.3_Silent_p.L530L|RALGDS_ENST00000393157.3_Silent_p.L584L|RALGDS_ENST00000372062.3_Silent_p.L556L|RALGDS_ENST00000372047.3_Silent_p.L573L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Silent_p.L656L	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	585	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CACTCACATACAGATAGTCCT	0.622			T	CIITA	"PMBL, Hodgkin Lymphona, "						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0			9											123	108	113					9																	135979137		2203	4300	6503	134968958	SO:0001819	synonymous_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1755G>C	9.37:g.135979137C>G		1622	134968958	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	37	CCDS6959.1																																																																																				0.622	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		G	135979137	C	G	135979137	2	3	437	1	0	0	0	0	0	0	0	1	13019	465	17	3		3	RALGDS	9	135979137	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09	1795478	135979137	5234294	64	24207											
EPC1	80314	genome.wustl.edu	37	10	32581969	32581969	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr10:32581969T>G	ENST00000263062.8	-	4	882	c.613A>C	c.(613-615)Aat>Cat	p.N205H	EPC1_ENST00000319778.6_Missense_Mutation_p.N205H|EPC1_ENST00000375110.2_Missense_Mutation_p.N155H	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	205					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TAAGGATCATTTGTGCTGGAA	0.313																																																0			10											67	68	67					10																	32581969		2202	4300	6502	32621975	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.613A>C	10.37:g.32581969T>G	ENSP00000263062:p.Asn205His		32621975	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147673	0.77888	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	6.08	6.08	0.98989	.	0.127384	0.64402	D	0.000001	D	0.83599	0.5289	M	0.86268	2.805	0.58432	D	0.999999	P;D;D;B	0.63046	0.599;0.988;0.992;0.439	B;P;D;B	0.70016	0.133;0.804;0.967;0.23	D	0.85983	0.1484	9	0.72032	D	0.01	-21.2473	16.6512	0.85203	0.0:0.0:0.0:1.0	.	205;155;205;205	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	H	155;205;205	.	ENSP00000263062:N205H	N	-	1	0	EPC1	32621975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.162000	0.64942	2.333000	0.79357	0.482000	0.46254	AAT		0.313	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			G	32581969	T	G	32581969	3	3	437	1	0	0	0	0	1	0	0	0	5160	1841	64	5	1945	5	EPC1	10	32581969	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09		32581969	102952778	65	24208											
IFIT1B	439996	genome.wustl.edu	37	10	91143824	91143848	+	Frame_Shift_Del	DEL	TATGTCTTTCAATATGCAGCCAAGT	TATGTCTTTCAATATGCAGCCAAGT	-	rs142404774|rs543130541|rs1062963|rs148786050|rs199716259		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	TATGTCTTTCAATATGCAGCCAAGT	TATGTCTTTCAATATGCAGCCAAGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr10:91143824_91143848delTATGTCTTTCAATATGCAGCCAAGT	ENST00000371809.3	+	2	834_858	c.754_778delTATGTCTTTCAATATGCAGCCAAGT	c.(754-780)tatgtctttcaatatgcagccaagtttfs	p.YVFQYAAKF252fs	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	252										endometrium(2)|large_intestine(3)|lung(8)	13						TTCACAGGCCTATGTCTTTCAATATGCAGCCAAGTTTTATCGAAG	0.449																																																0			10																																								91133828	SO:0001589	frameshift_variant	439996				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.754_778delTATGTCTTTCAATATGCAGCCAAGT	10.37:g.91143824_91143848delTATGTCTTTCAATATGCAGCCAAGT	ENSP00000360874:p.Tyr252fs		91133804	A7E245	Frame_Shift_Del	DEL	ENST00000371809.3	37	CCDS31242.1																																																																																				0.449	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		-	91143848	TATGTCTTTCAATATGCAGCCAAGT	-	91143824	7	5	437	1	0	1	0	1	0	0	0	0	7522	1522	53	0	760	0	IFIT1B	10	91143824	Frame_Shift_Del	DEL	TATGTCTTTCAATATGCAGCCAAGT	TCGA-61-1910-01A-01W-0639-09	58561855	91143824	44390923	66	24209											
MUC5B	727897	genome.wustl.edu	37	11	1263795	1263795	+	Silent	SNP	C	C	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr11:1263795C>G	ENST00000529681.1	+	31	5743	c.5685C>G	c.(5683-5685)gcC>gcG	p.A1895A	MUC5B_ENST00000447027.1_Silent_p.A1898A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1895	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTCCACGGCCACGCCCTCCT	0.612																																																0			11											87	108	101					11																	1263795		2185	4267	6452	1220371	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5685C>G	11.37:g.1263795C>G			1220371	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1263795	C	G	1263795	2	3	437	1	0	0	0	0	0	0	0	1	9979	581	21	3		3	MUC5B	11	1263795	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09		1263795	133742721	67	24210											
CNGA4	1262	genome.wustl.edu	37	11	6265372	6265372	+	Silent	SNP	C	C	T	rs376820772		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr11:6265372C>T	ENST00000379936.2	+	6	1576	c.1461C>T	c.(1459-1461)atC>atT	p.I487I		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	487					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCTGAGATCGCCCTGCAGG	0.557																																																0			11						C		1,4401	2.1+/-5.4	0,1,2200	100	87	91		1461	-4.5	1	11		91	0,8592		0,0,4296	no	coding-synonymous	CNGA4	NM_001037329.3		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		487/576	6265372	1,12993	2201	4296	6497	6221948	SO:0001819	synonymous_variant	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1461C>T	11.37:g.6265372C>T			6221948		Silent	SNP	ENST00000379936.2	37	CCDS31408.1																																																																																				0.557	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		T	6265372	C	T	6265372	2	4	437	1	0	0	0	0	0	0	0	1	3599	874	31	1		1	CNGA4	11	6265372	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09	5001577	6265372	128741144	68	24211											
LDHC	3948	genome.wustl.edu	37	11	18472564	18472564	+	Silent	SNP	C	C	A	rs200582503		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr11:18472564C>A	ENST00000541669.1	+	8	1000	c.889C>A	c.(889-891)Cgg>Agg	p.R297R	LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000535809.1_Missense_Mutation_p.A216E|LDHC_ENST00000280704.4_Silent_p.R297R|LDHC_ENST00000536880.1_Silent_p.R283R|LDHC_ENST00000537486.1_Missense_Mutation_p.A158E|LDHC_ENST00000546146.1_3'UTR			P07864	LDHC_HUMAN	lactate dehydrogenase C	297					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTCTTGGGGCGGAATGGTGT	0.373																																																0			11											115	113	113					11																	18472564		2199	4293	6492	18429140	SO:0001819	synonymous_variant	3948			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"cancer/testis antigen 32"	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.889C>A	11.37:g.18472564C>A			18429140	D3DQY4|Q6GSG8|Q7Z7J4	Silent	SNP	ENST00000541669.1	37	CCDS7840.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657607	0.29425	.	.	ENSG00000166796	ENST00000537486;ENST00000535809	D;D	0.91180	-2.8;-1.78	4.65	3.72	0.42706	.	.	.	.	.	T	0.79452	0.4448	.	.	.	0.09310	N	1	B	0.31485	0.325	B	0.26094	0.066	T	0.65681	-0.6109	8	0.14656	T	0.56	-0.6244	6.5413	0.22382	0.0:0.7177:0.1855:0.0968	.	216	F5H155	.	E	158;216	ENSP00000441478:A158E;ENSP00000443997:A216E	ENSP00000443997:A216E	A	+	2	0	LDHC	18429140	0.011000	0.17503	0.172000	0.22920	0.930000	0.56654	1.565000	0.36386	1.288000	0.44600	0.561000	0.74099	GCG		0.373	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		A	18472564	C	A	18472564	2	1	437	1	0	0	0	0	0	0	0	1	8702	759	27	3		3	LDHC	11	18472564	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09	12207192	18472564	116533952	69	24212											
CCDC34	91057	genome.wustl.edu	37	11	27363055	27363055	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr11:27363055C>G	ENST00000328697.6	-	4	1322	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	217										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						gctgctttttcctccatttct	0.264																																																0			11											106	95	99					11																	27363055		1858	3605	5463	27319631	SO:0001583	missense	91057			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.649G>C	11.37:g.27363055C>G	ENSP00000330240:p.Glu217Gln		27319631	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029850	0.54790	.	.	ENSG00000109881	ENST00000328697	T	0.23147	1.92	3.84	3.84	0.44239	.	0.149656	0.43579	D	0.000542	T	0.39708	0.1088	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.06356	-1.0831	10	0.38643	T	0.18	-6.5991	11.5494	0.50713	0.0:1.0:0.0:0.0	.	217	Q96HJ3	CCD34_HUMAN	Q	217	ENSP00000330240:E217Q	ENSP00000330240:E217Q	E	-	1	0	CCDC34	27319631	0.991000	0.36638	0.990000	0.47175	0.948000	0.59901	3.710000	0.54860	2.440000	0.82611	0.591000	0.81541	GAA		0.264	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		G	27363055	C	G	27363055	3	3	437	1	0	0	0	0	1	0	0	0	2807	864	30	3	484	3	CCDC34	11	27363055	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	8890491	27363055	107643461	70	24213											
OR5W2	390148	genome.wustl.edu	37	11	55681179	55681179	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr11:55681179T>A	ENST00000344514.1	-	1	879	c.880A>T	c.(880-882)Aac>Tac	p.N294Y		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACATCCTTGTTCCTCAGGCTA	0.343																																					Melanoma(48;171 1190 15239 43886 49348)											0			11											34	37	36					11																	55681179		2200	4296	6496	55437755	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.880A>T	11.37:g.55681179T>A	ENSP00000342448:p.Asn294Tyr		55437755		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.998866	0.35226	.	.	ENSG00000187612	ENST00000344514	T	0.50001	0.76	5.01	5.01	0.66863	.	0.000000	0.41396	D	0.000889	T	0.65386	0.2686	H	0.96048	3.76	0.31374	N	0.679829	P	0.41450	0.75	B	0.42995	0.404	T	0.78897	-0.2023	10	0.87932	D	0	.	12.6788	0.56910	0.0:0.0:0.0:1.0	.	294	Q8NH69	OR5W2_HUMAN	Y	294	ENSP00000342448:N294Y	ENSP00000342448:N294Y	N	-	1	0	OR5W2	55437755	0.947000	0.32204	0.791000	0.31998	0.396000	0.30629	3.259000	0.51515	1.874000	0.54306	0.448000	0.29417	AAC		0.343	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		A	55681179	T	A	55681179	3	1	437	1	0	0	0	0	1	0	0	0	11185	1783	62	5	54	5	OR5W2	11	55681179	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	28318124	55681179	79325337	71	24214											
CCDC88B	283234	genome.wustl.edu	37	11	64108210	64108210	+	Silent	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr11:64108210G>T	ENST00000356786.5	+	2	236	c.192G>T	c.(190-192)cgG>cgT	p.R64R	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	64						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTCCTCCGGGTGCTGGGCA	0.672																																																0			11											36	47	43					11																	64108210		2155	4262	6417	63864786	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.192G>T	11.37:g.64108210G>T			63864786	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	CCDS8072.2																																																																																				0.672	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		T	64108210	G	T	64108210	2	4	437	1	0	0	0	0	0	0	0	1	2864	1219	43	3		3	CCDC88B	11	64108210	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	8427031	64108210	70898306	72	24215											
TTC12	54970	genome.wustl.edu	37	11	113220879	113220879	+	Silent	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr11:113220879G>T	ENST00000529221.1	+	14	1344	c.1239G>T	c.(1237-1239)ctG>ctT	p.L413L	TTC12_ENST00000483239.2_Silent_p.L419L|TTC12_ENST00000314756.3_Silent_p.L413L|TTC12_ENST00000393020.1_Silent_p.L413L|TTC12_ENST00000478125.1_3'UTR	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	413										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACTTGGCTCTGGAAGAAAGGT	0.373																																																0			11											123	122	122					11																	113220879		2201	4296	6497	112726089	SO:0001819	synonymous_variant	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1239G>T	11.37:g.113220879G>T			112726089	Q8N5H9|Q9NWY3	Silent	SNP	ENST00000529221.1	37	CCDS8360.2																																																																																				0.373	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		T	113220879	G	T	113220879	2	4	437	1	0	0	0	0	0	0	0	1	16679	1335	47	3		3	TTC12	11	113220879	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	49112669	113220879	21785637	73	24216											
CCDC15	80071	genome.wustl.edu	37	11	124862563	124862563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr11:124862563C>T	ENST00000344762.5	+	10	2378	c.2119C>T	c.(2119-2121)Caa>Taa	p.Q707*	CCDC15_ENST00000529051.1_Nonsense_Mutation_p.Q707*	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	707						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AATCCAGGACCAAGACTCCCC	0.403																																																0			11											63	58	60					11																	124862563		1845	4094	5939	124367773	SO:0001587	stop_gained	80071			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2119C>T	11.37:g.124862563C>T	ENSP00000341684:p.Gln707*		124367773	Q9H8U7	Nonsense_Mutation	SNP	ENST00000344762.5	37	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500285	0.97616	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	.	.	.	4.69	-0.622	0.11560	.	1.972730	0.02991	N	0.146809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	2.7408	0.9222	0.01317	0.3208:0.3421:0.1561:0.181	.	.	.	.	X	707	.	ENSP00000341684:Q707X	Q	+	1	0	CCDC15	124367773	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	-0.357000	0.07651	-0.083000	0.12618	0.655000	0.94253	CAA		0.403	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		T	124862563	C	T	124862563	4	4	437	1	0	0	0	0	0	1	0	0	2784	595	21	2	2153	2	CCDC15	11	124862563	Nonsense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	11641684	124862563	10143953	74	24217											
KCNA6	3742	genome.wustl.edu	37	12	4920127	4920127	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr12:4920127A>T	ENST00000280684.3	+	1	1786	c.920A>T	c.(919-921)tAc>tTc	p.Y307F	KCNA6_ENST00000433855.1_Missense_Mutation_p.Y307F|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	307					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	ATCTTCCCCTACTTCATCACC	0.592										HNSCC(72;0.22)																																						0			12											79	70	73					12																	4920127		2203	4300	6503	4790388	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.920A>T	12.37:g.4920127A>T	ENSP00000280684:p.Tyr307Phe		4790388		Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070258	0.76301	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98313	-4.86;-4.86	5.28	5.28	0.74379	Ion transport (1);	0.061213	0.64402	D	0.000002	D	0.97414	0.9154	L	0.28740	0.885	0.47862	D	0.999532	P	0.49358	0.923	P	0.57548	0.823	D	0.97710	1.0190	10	0.48119	T	0.1	.	14.5578	0.68113	1.0:0.0:0.0:0.0	.	307	P17658	KCNA6_HUMAN	F	307	ENSP00000408321:Y307F;ENSP00000280684:Y307F	ENSP00000280684:Y307F	Y	+	2	0	KCNA6	4790388	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.067000	0.93955	2.217000	0.71921	0.533000	0.62120	TAC		0.592	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		T	4920127	A	T	4920127	3	4	437	1	0	0	0	0	1	0	0	0	8007	391	14	5	922	5	KCNA6	12	4920127	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09		4920127	128931768	75	24218											
TAS2R42	353164	genome.wustl.edu	37	12	11339377	11339377	+	Missense_Mutation	SNP	A	A	T	rs149471990		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr12:11339377A>T	ENST00000334266.1	-	1	166	c.167T>A	c.(166-168)aTt>aAt	p.I56N		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	56					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CAGTTGTCCAATTGTGGAGAT	0.408																																					Melanoma(15;352 722 10077 19546 48810)											0			12											147	132	137					12																	11339377		2203	4300	6503	11230644	SO:0001583	missense	353164			AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.167T>A	12.37:g.11339377A>T	ENSP00000334050:p.Ile56Asn		11230644	A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284724	0.40394	.	.	ENSG00000186136	ENST00000334266	T	0.01209	5.17	3.21	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.190997	0.30920	U	0.008610	T	0.08313	0.0207	M	0.94063	3.49	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03840	-1.0999	10	0.87932	D	0	.	8.079	0.30733	1.0:0.0:0.0:0.0	.	56	Q7RTR8	T2R42_HUMAN	N	56	ENSP00000334050:I56N	ENSP00000334050:I56N	I	-	2	0	TAS2R42	11230644	0.143000	0.22626	0.012000	0.15200	0.002000	0.02628	2.721000	0.47260	1.489000	0.48450	0.533000	0.62120	ATT		0.408	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		T	11339377	A	T	11339377	3	4	437	1	0	0	0	0	1	0	0	0	15580	101	4	5	781	5	TAS2R42	12	11339377	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	6419250	11339377	122512518	76	24219											
ITPR2	3709	genome.wustl.edu	37	12	26774142	26774142	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr12:26774142A>C	ENST00000381340.3	-	26	3792	c.3376T>G	c.(3376-3378)Tct>Gct	p.S1126A	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1126					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATAGCTCAGACTTTTCTACT	0.423																																																0			12											335	310	318					12																	26774142		1887	4127	6014	26665409	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3376T>G	12.37:g.26774142A>C	ENSP00000370744:p.Ser1126Ala		26665409	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672317	0.88348	.	.	ENSG00000123104	ENST00000381340	D	0.96011	-3.88	4.82	4.82	0.62117	.	0.186955	0.49305	D	0.000150	D	0.97430	0.9159	M	0.85197	2.74	0.80722	D	1	D	0.67145	0.996	D	0.63381	0.914	D	0.98039	1.0381	10	0.66056	D	0.02	.	14.5562	0.68101	1.0:0.0:0.0:0.0	.	1126	Q14571	ITPR2_HUMAN	A	1126	ENSP00000370744:S1126A	ENSP00000370744:S1126A	S	-	1	0	ITPR2	26665409	1.000000	0.71417	0.799000	0.32177	0.906000	0.53458	9.087000	0.94110	2.024000	0.59613	0.528000	0.53228	TCT		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26774142	A	C	26774142	3	2	437	1	0	0	0	0	1	0	0	0	7921	275	10	5	4857	5	ITPR2	12	26774142	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	15434765	26774142	107077753	77	24220											
LRRK2	120892	genome.wustl.edu	37	12	40671761	40671761	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr12:40671761T>G	ENST00000298910.7	+	17	2071	c.2013T>G	c.(2011-2013)ttT>ttG	p.F671L	LRRK2_ENST00000343742.2_Missense_Mutation_p.F671L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	671					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCATTCATTTGACTTAGTAA	0.308																																																0			12											75	70	72					12																	40671761		2203	4299	6502	38958028	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2013T>G	12.37:g.40671761T>G	ENSP00000298910:p.Phe671Leu		38958028	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.420583	0.25639	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.58358	0.34;1.6;1.6	6.08	3.69	0.42338	.	0.166261	0.53938	N	0.000049	T	0.44871	0.1314	L	0.53249	1.67	0.40525	D	0.980876	B;B	0.15141	0.012;0.007	B;B	0.16722	0.012;0.016	T	0.31052	-0.9957	10	0.36615	T	0.2	.	8.0865	0.30775	0.1216:0.0652:0.0:0.8132	.	671;671	E9PC85;Q5S007	.;LRRK2_HUMAN	L	419;671;671	ENSP00000398726:F419L;ENSP00000341930:F671L;ENSP00000298910:F671L	ENSP00000298910:F671L	F	+	3	2	LRRK2	38958028	1.000000	0.71417	0.641000	0.29422	0.004000	0.04260	1.318000	0.33643	0.515000	0.28320	-0.468000	0.05107	TTT		0.308	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40671761	T	G	40671761	3	3	437	1	0	0	0	0	1	0	0	0	9033	1809	63	5	2079	5	LRRK2	12	40671761	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	13897619	40671761	93180134	78	24221											
KRT85	3891	genome.wustl.edu	37	12	52757086	52757086	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr12:52757086A>G	ENST00000257901.3	-	5	970	c.895T>C	c.(895-897)Tat>Cat	p.Y299H	KRT85_ENST00000544265.1_Missense_Mutation_p.Y87H	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	299	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACATCGTCATACTGAGCCTTG	0.577																																																0			12											122	86	98					12																	52757086		2203	4300	6503	51043353	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.895T>C	12.37:g.52757086A>G	ENSP00000257901:p.Tyr299His		51043353	Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332815	0.81801	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.92805	-3.11;-3.11	4.83	4.83	0.62350	Filament (1);	0.000000	0.50627	D	0.000110	D	0.96623	0.8898	M	0.93594	3.435	0.33048	D	0.532366	D	0.76494	0.999	D	0.76575	0.988	D	0.98813	1.0744	10	0.87932	D	0	.	10.8652	0.46851	0.8592:0.0:0.0:0.1408	.	299	P78386	KRT85_HUMAN	H	299;87	ENSP00000257901:Y299H;ENSP00000440240:Y87H	ENSP00000257901:Y299H	Y	-	1	0	KRT85	51043353	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.519000	0.81809	1.803000	0.52742	0.459000	0.35465	TAT		0.577	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		G	52757086	A	G	52757086	3	3	437	1	0	0	0	0	1	0	0	0	8499	391	14	4	648	4	KRT85	12	52757086	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	12085325	52757086	81094809	79	24222											
ESYT1	23344	genome.wustl.edu	37	12	56532006	56532006	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr12:56532006T>A	ENST00000394048.5	+	21	2551	c.2287T>A	c.(2287-2289)Ttg>Atg	p.L763M	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_Missense_Mutation_p.L773M|ESYT1_ENST00000541590.1_Missense_Mutation_p.L773M	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	763					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCGCCTGCACTTGCGCCTGGA	0.587																																																0			12											134	137	136					12																	56532006		2203	4300	6503	54818273	SO:0001583	missense	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2287T>A	12.37:g.56532006T>A	ENSP00000377612:p.Leu763Met		54818273	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.345929	0.61073	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.14022	2.54;2.54;2.54	5.47	2.84	0.33178	C2 calcium/lipid-binding domain, CaLB (1);	0.354070	0.25561	N	0.029827	T	0.23249	0.0562	L	0.55990	1.75	0.43756	D	0.996269	P;D	0.89917	0.881;1.0	P;D	0.69307	0.701;0.963	T	0.04333	-1.0959	10	0.48119	T	0.1	-11.5704	2.7447	0.05263	0.1865:0.2309:0.0:0.5826	.	773;763	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	M	763;717;773;773	ENSP00000377612:L763M;ENSP00000267113:L773M;ENSP00000445952:L773M	ENSP00000267113:L773M	L	+	1	2	ESYT1	54818273	0.672000	0.27530	1.000000	0.80357	0.998000	0.95712	-0.298000	0.08265	1.015000	0.39444	0.459000	0.35465	TTG		0.587	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		A	56532006	T	A	56532006	3	1	437	1	0	0	0	0	1	0	0	0	5264	1606	56	5	2399	5	ESYT1	12	56532006	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	3774920	56532006	77319889	80	24223											
NAV3	89795	genome.wustl.edu	37	12	78444819	78444819	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr12:78444819A>G	ENST00000397909.2	+	11	2581	c.2408A>G	c.(2407-2409)gAg>gGg	p.E803G	NAV3_ENST00000266692.7_Missense_Mutation_p.E803G|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.E803G|NAV3_ENST00000536525.2_Missense_Mutation_p.E803G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	803						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACATGAGTGAGAAAGCAAGC	0.498										HNSCC(70;0.22)																																						0			12											67	67	67					12																	78444819		2092	4224	6316	76968950	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2408A>G	12.37:g.78444819A>G	ENSP00000381007:p.Glu803Gly		76968950	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	A	20.3	3.970948	0.74246	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.33216	1.53;1.52;1.53;1.42	5.79	5.79	0.91817	.	0.000000	0.40554	U	0.001079	T	0.34687	0.0906	L	0.59436	1.845	0.80722	D	1	B;B;B	0.18013	0.005;0.003;0.025	B;B;B	0.18561	0.009;0.001;0.022	T	0.11348	-1.0591	10	0.87932	D	0	-24.5674	16.1249	0.81386	1.0:0.0:0.0:0.0	.	803;803;803	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	G	803	ENSP00000446132:E803G;ENSP00000381007:E803G;ENSP00000228327:E803G;ENSP00000266692:E803G	ENSP00000228327:E803G	E	+	2	0	NAV3	76968950	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.050000	0.76620	2.208000	0.71279	0.533000	0.62120	GAG		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		G	78444819	A	G	78444819	3	3	437	1	0	0	0	0	1	0	0	0	10185	304	11	4	2450	4	NAV3	12	78444819	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	21912813	78444819	55407076	81	24224											
C12orf23	90488	genome.wustl.edu	37	12	107365122	107365122	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr12:107365122G>T	ENST00000280756.4	+	4	722	c.304G>T	c.(304-306)Gta>Tta	p.V102L	C12orf23_ENST00000547081.1_Missense_Mutation_p.V102L|C12orf23_ENST00000548125.1_Missense_Mutation_p.V102L|C12orf23_ENST00000551813.1_Missense_Mutation_p.V102L|C12orf23_ENST00000550344.1_Missense_Mutation_p.V102L|C12orf23_ENST00000547242.1_Missense_Mutation_p.V102L	NM_152261.2	NP_689474.1	Q8WUH6	TM263_HUMAN		102						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)	3						GTCTGCTGTTGTAAACAAAGT	0.468																																																0			12											111	94	100					12																	107365122		2203	4300	6503	105889252	SO:0001583	missense	90488																														ENST00000280756.4:c.304G>T	12.37:g.107365122G>T	ENSP00000280756:p.Val102Leu		105889252	B3KMN9	Missense_Mutation	SNP	ENST00000280756.4	37	CCDS9110.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701783	0.48307	.	.	ENSG00000151135	ENST00000548125;ENST00000280756;ENST00000547242;ENST00000550344;ENST00000547081;ENST00000551813	.	.	.	6.03	6.03	0.97812	.	0.115681	0.64402	D	0.000016	T	0.52224	0.1721	L	0.29908	0.895	0.43540	D	0.995832	B	0.14438	0.01	B	0.10450	0.005	T	0.47971	-0.9075	9	0.62326	D	0.03	-0.1861	14.4568	0.67420	0.0:0.0:0.8534:0.1466	.	102	Q8WUH6	CL023_HUMAN	L	102	.	ENSP00000280756:V102L	V	+	1	0	C12orf23	105889252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.954000	0.56708	2.854000	0.98071	0.655000	0.94253	GTA		0.468	C12orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406857.1			T	107365122	G	T	107365122	3	4	437	1	0	0	0	0	1	0	0	0	1677	1377	48	3	310	3	C12orf23	12	107365122	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	28920303	107365122	26486773	82	24225											
PXN	5829	genome.wustl.edu	37	12	120662173	120662173	+	Silent	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr12:120662173C>A	ENST00000228307.7	-	2	162	c.21G>T	c.(19-21)ctG>ctT	p.L7L	PXN_ENST00000458477.2_5'UTR|PXN_ENST00000424649.2_Silent_p.L7L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000267257.7_Silent_p.L7L|PXN_ENST00000536957.1_Silent_p.L5L	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	7					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTCCGCCAGCAGGGCGTCTG	0.592																																																0			12											45	51	49					12																	120662173		2004	4156	6160	119146556	SO:0001819	synonymous_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.21G>T	12.37:g.120662173C>A			119146556	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	CCDS44997.1																																																																																				0.592	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		A	120662173	C	A	120662173	2	1	437	1	0	0	0	0	0	0	0	1	12855	697	25	3		3	PXN	12	120662173	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09	13297051	120662173	13189722	83	24226											
EPSTI1	94240	genome.wustl.edu	37	13	43469190	43469190	+	Silent	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr13:43469190G>A	ENST00000398762.3	-	11	902	c.903C>T	c.(901-903)ctC>ctT	p.L301L	EPSTI1_ENST00000313624.7_Silent_p.L290L|EPSTI1_ENST00000313640.7_Silent_p.L301L			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	301										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CAGATTGCTCGAGGCCACCTG	0.388																																																0			13											65	64	64					13																	43469190		2203	4300	6503	42367190	SO:0001819	synonymous_variant	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.903C>T	13.37:g.43469190G>A			42367190	Q8IVC7|Q8NDQ7	Silent	SNP	ENST00000398762.3	37	CCDS9387.1																																																																																				0.388	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		A	43469190	G	A	43469190	2	1	437	1	0	0	0	0	0	0	0	1	5198	1045	37	1		1	EPSTI1	13	43469190	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09		43469190	71700688	84	24227											
THSD1	55901	genome.wustl.edu	37	13	52952624	52952624	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr13:52952624A>T	ENST00000258613.4	-	5	1659	c.1481T>A	c.(1480-1482)aTc>aAc	p.I494N	THSD1_ENST00000544466.1_Missense_Mutation_p.I115N|THSD1_ENST00000349258.4_Missense_Mutation_p.I441N	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	494					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGTCAGAGGGATGCCTGTGTC	0.637																																																0			13											59	62	61					13																	52952624		2203	4300	6503	51850625	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1481T>A	13.37:g.52952624A>T	ENSP00000258613:p.Ile494Asn		51850625	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	a	14.84	2.656096	0.47467	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.36520	1.97;1.25;2.15	6.06	6.06	0.98353	.	0.367890	0.29431	N	0.012179	T	0.57169	0.2035	M	0.69823	2.125	0.46113	D	0.99887	P;D	0.58620	0.802;0.983	B;P	0.60345	0.231;0.873	T	0.60530	-0.7245	10	0.87932	D	0	-31.5221	15.7938	0.78394	1.0:0.0:0.0:0.0	.	441;494	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	N	441;115;494	ENSP00000340650:I441N;ENSP00000438512:I115N;ENSP00000258613:I494N	ENSP00000258613:I494N	I	-	2	0	THSD1	51850625	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	3.344000	0.52174	2.322000	0.78497	0.528000	0.53228	ATC		0.637	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			T	52952624	A	T	52952624	3	4	437	1	0	0	0	0	1	0	0	0	15877	333	12	5	1081	5	THSD1	13	52952624	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	9483434	52952624	62217254	85	24228											
GPC5	2262	genome.wustl.edu	37	13	92101130	92101130	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr13:92101130C>A	ENST00000377067.3	+	2	651	c.279C>A	c.(277-279)agC>agA	p.S93R		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	93					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAACGTCCAGCTCTACATTAA	0.433																																																0			13											126	116	119					13																	92101130		2203	4300	6503	90899131	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.279C>A	13.37:g.92101130C>A	ENSP00000366267:p.Ser93Arg		90899131	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595312	0.46318	.	.	ENSG00000179399	ENST00000377067	T	0.56611	0.45	5.5	2.43	0.29744	.	0.041479	0.85682	D	0.000000	T	0.67401	0.2889	M	0.79926	2.475	0.36718	D	0.881022	D	0.89917	1.0	D	0.79108	0.992	T	0.70831	-0.4765	10	0.87932	D	0	.	5.2984	0.15764	0.0:0.4771:0.0:0.5229	.	93	P78333	GPC5_HUMAN	R	93	ENSP00000366267:S93R	ENSP00000366267:S93R	S	+	3	2	GPC5	90899131	1.000000	0.71417	0.993000	0.49108	0.277000	0.26821	0.883000	0.28200	0.697000	0.31718	-0.373000	0.07131	AGC		0.433	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		A	92101130	C	A	92101130	3	1	437	1	0	0	0	0	1	0	0	0	6601	796	28	3	285	3	GPC5	13	92101130	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	39148506	92101130	23068748	86	24229											
OR4E2	26686	genome.wustl.edu	37	14	22134002	22134002	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr14:22134002G>T	ENST00000408935.1	+	1	706	c.706G>T	c.(706-708)Gcc>Tcc	p.A236S		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCGCCAGAAAGCCCTGTCTAC	0.522																																																0			14											106	101	103					14																	22134002		1967	4153	6120	21203842	SO:0001583	missense	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.706G>T	14.37:g.22134002G>T	ENSP00000386195:p.Ala236Ser		21203842	Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356321	0.82243	.	.	ENSG00000221977	ENST00000408935	T	0.00359	7.87	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37857	U	0.001906	T	0.01320	0.0043	M	0.93550	3.43	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	T	0.51387	-0.8712	10	0.87932	D	0	.	17.6362	0.88123	0.0:0.0:1.0:0.0	.	236	Q8NGC2	OR4E2_HUMAN	S	236	ENSP00000386195:A236S	ENSP00000386195:A236S	A	+	1	0	OR4E2	21203842	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	5.508000	0.67006	2.829000	0.97493	0.655000	0.94253	GCC		0.522	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			T	22134002	G	T	22134002	3	4	437	1	0	0	0	0	1	0	0	0	11060	971	34	3	708	3	OR4E2	14	22134002	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09		22134002	85215538	87	24230											
OR4E2	26686	genome.wustl.edu	37	14	22134044	22134044	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr14:22134044T>A	ENST00000408935.1	+	1	748	c.748T>A	c.(748-750)Ttc>Atc	p.F250I		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGTTGCCCTCTTCTTTGGGCC	0.517																																																0			14											90	86	87					14																	22134044		1948	4143	6091	21203884	SO:0001583	missense	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.748T>A	14.37:g.22134044T>A	ENSP00000386195:p.Phe250Ile		21203884	Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914523	0.72983	.	.	ENSG00000221977	ENST00000408935	T	0.00289	8.28	5.68	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.232477	0.22509	U	0.059138	T	0.00580	0.0019	H	0.94964	3.605	0.41821	D	0.990025	P	0.39831	0.69	P	0.46452	0.517	T	0.58463	-0.7632	10	0.49607	T	0.09	.	9.8877	0.41272	0.0:0.0808:0.0:0.9191	.	250	Q8NGC2	OR4E2_HUMAN	I	250	ENSP00000386195:F250I	ENSP00000386195:F250I	F	+	1	0	OR4E2	21203884	0.452000	0.25713	0.892000	0.35008	0.983000	0.72400	2.683000	0.46943	1.092000	0.41356	0.533000	0.62120	TTC		0.517	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			A	22134044	T	A	22134044	3	1	437	1	0	0	0	0	1	0	0	0	11060	1609	56	5	750	5	OR4E2	14	22134044	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	42	22134044	85215496	88	24231											
PYGL	5836	genome.wustl.edu	37	14	51410969	51410969	+	Silent	SNP	G	G	A	rs77316189	byFrequency	TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr14:51410969G>A	ENST00000216392.7	-	1	485	c.153C>T	c.(151-153)gaC>gaT	p.D51D	PYGL_ENST00000544180.2_Silent_p.D51D|PYGL_ENST00000532462.1_Silent_p.D51D	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	51					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CGAAGTAGTAGTCGCGGGTGG	0.642													G|||	290	0.0579073	0.1566	0.0231	5008	,	,		13995	0.001		0.0338	False		,,,				2504	0.0327															0			14						G	,	677,3729	284.9+/-277.9	49,579,1575	72	55	60		153,153	2.5	1	14	dbSNP_131	60	310,8290	111.2+/-171.5	4,302,3994	no	coding-synonymous,coding-synonymous	PYGL	NM_001163940.1,NM_002863.4	,	53,881,5569	AA,AG,GG		3.6047,15.3654,7.5888	,	51/814,51/848	51410969	987,12019	2203	4300	6503	50480719	SO:0001819	synonymous_variant	5836				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.153C>T	14.37:g.51410969G>A			50480719	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																				0.642	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		A	51410969	G	A	51410969	2	1	437	1	0	0	0	0	0	0	0	1	12864	1020	36	2		2	PYGL	14	51410969	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	29276925	51410969	55938571	89	24232											
SPTB	6710	genome.wustl.edu	37	14	65237749	65237749	+	Silent	SNP	C	C	T	rs146536978	byFrequency	TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr14:65237749C>T	ENST00000389721.5	-	26	5684	c.5652G>A	c.(5650-5652)gcG>gcA	p.A1884A	SPTB_ENST00000389720.3_Silent_p.A1884A|SPTB_ENST00000556626.1_Silent_p.A1884A|SPTB_ENST00000542895.1_Silent_p.A1884A|SPTB_ENST00000389722.3_Silent_p.A1884A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1884					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCGCCTGCCACGCGGCAGACA	0.637													C|||	2	0.000399361	0.0015	0	5008	,	,		22334	0		0	False		,,,				2504	0															0			14						C	,	13,4393	20.2+/-43.8	0,13,2190	79	78	78		5652,5652	-5.9	0	14	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	,	1884/2138,1884/2329	65237749	13,12993	2203	4300	6503	64307502	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5652G>A	14.37:g.65237749C>T			64307502	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.637	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65237749	C	T	65237749	2	4	437	1	0	0	0	0	0	0	0	1	15120	523	19	1		1	SPTB	14	65237749	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09	13826780	65237749	42111791	90	24233											
KIAA0317	9870	genome.wustl.edu	37	14	75134212	75134212	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr14:75134212C>T	ENST00000356357.4	-	16	2515	c.2000G>A	c.(1999-2001)cGg>cAg	p.R667Q	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	667	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACTGGCCAGCCGATATTGGGC	0.448																																																0			14											78	81	80					14																	75134212		1859	4092	5951	74203965	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2000G>A	14.37:g.75134212C>T	ENSP00000348714:p.Arg667Gln		74203965	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906299	0.97087	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.50548	0.74;0.74	5.55	5.55	0.83447	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85181	0.1004	10	0.87932	D	0	.	19.8667	0.96806	0.0:1.0:0.0:0.0	.	667	O15033	K0317_HUMAN	Q	667;506;506	ENSP00000348714:R667Q;ENSP00000452101:R506Q	ENSP00000348714:R667Q	R	-	2	0	KIAA0317	74203965	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	6.026000	0.70873	2.773000	0.95371	0.655000	0.94253	CGG		0.448	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		T	75134212	C	T	75134212	3	4	437	1	0	0	0	0	1	0	0	0	8167	652	23	1	491	1	KIAA0317	14	75134212	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	9896463	75134212	32215328	91	24234											
TCL1A	8115	genome.wustl.edu	37	14	96178659	96178659	+	Silent	SNP	G	G	T	rs200758121		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr14:96178659G>T	ENST00000402399.1	-	2	324	c.195C>A	c.(193-195)acC>acA	p.T65T	TCL1A_ENST00000556450.1_Silent_p.T65T|TCL1A_ENST00000554012.1_Silent_p.T65T|RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000555202.1_Silent_p.T65T	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	65					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GGCCTATCTGGGTGGGGGTCA	0.547			T	TRA@	T-CLL																																Ovarian(96;1068 2019 35393 39316)		Dom	yes		14	14q32.1	8115	T-cell leukemia/lymphoma 1A		L	0			14											102	102	102					14																	96178659		2203	4300	6503	95248412	SO:0001819	synonymous_variant	8115			X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.195C>A	14.37:g.96178659G>T			95248412	Q6IBK7	Silent	SNP	ENST00000402399.1	37	CCDS9941.1	.	.	.	.	.	.	.	.	.	.	G	4.449	0.083168	0.08533	.	.	ENSG00000100721	ENST00000557043	.	.	.	3.61	0.728	0.18260	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	-7.2674	5.462	0.16622	0.3808:0.0:0.6192:0.0	.	.	.	.	T	40	.	.	P	-	1	0	TCL1A	95248412	0.019000	0.18553	0.036000	0.18154	0.016000	0.09150	-0.076000	0.11412	0.152000	0.19188	0.462000	0.41574	CCA		0.547	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413246.1			T	96178659	G	T	96178659	2	4	437	1	0	0	0	0	0	0	0	1	15704	1219	43	3		3	TCL1A	14	96178659	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	21044447	96178659	11170881	92	24235											
CHRNA7	1139	genome.wustl.edu	37	15	32323117	32323117	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr15:32323117G>C	ENST00000306901.3	+	2	169	c.72G>C	c.(70-72)gaG>gaC	p.E24D	CHRNA7_ENST00000455693.2_5'UTR|CHRNA7_ENST00000454250.3_Missense_Mutation_p.E53D	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	24					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGCAAGGCGAGTTCCAGAGGA	0.637																																					Esophageal Squamous(193;529 2900 40232 43193)											0			15											48	46	47					15																	32323117		2201	4300	6501	30110409	SO:0001583	missense	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.72G>C	15.37:g.32323117G>C	ENSP00000303727:p.Glu24Asp		30110409	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052172	0.36181	.	.	ENSG00000175344	ENST00000454250;ENST00000306901;ENST00000449991	T;T	0.78364	-1.17;-1.15	4.41	4.41	0.53225	Neurotransmitter-gated ion-channel ligand-binding (1);	0.131443	0.49916	D	0.000139	T	0.67011	0.2848	N	0.16266	0.395	0.80722	D	1	B;B;B	0.28900	0.003;0.052;0.227	B;B;B	0.34301	0.018;0.028;0.179	T	0.68704	-0.5338	10	0.51188	T	0.08	.	14.8598	0.70372	0.0:0.0:1.0:0.0	.	24;40;24	F5H8K5;B1N7F6;P36544	.;.;ACHA7_HUMAN	D	53;24;24	ENSP00000407546:E53D;ENSP00000303727:E24D	ENSP00000303727:E24D	E	+	3	2	CHRNA7	30110409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.729000	0.47327	2.190000	0.69967	0.491000	0.48974	GAG		0.637	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			C	32323117	G	C	32323117	3	2	437	1	0	0	0	0	1	0	0	0	3388	1020	36	3	78	3	CHRNA7	15	32323117	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09		32323117	70208275	93	24236											
EHD4	30844	genome.wustl.edu	37	15	42235274	42235274	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr15:42235274T>G	ENST00000220325.4	-	3	585	c.502A>C	c.(502-504)Atc>Ctc	p.I168L		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	168	Dynamin-type G.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTCGGCTGATGCGCTGCTTC	0.572																																																0			15											62	50	54					15																	42235274		2199	4296	6495	40022566	SO:0001583	missense	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.502A>C	15.37:g.42235274T>G	ENSP00000220325:p.Ile168Leu		40022566	Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.746617	0.49257	.	.	ENSG00000103966	ENST00000220325	D	0.96685	-4.09	5.31	2.79	0.32731	Dynamin, GTPase domain (1);	0.159668	0.51477	D	0.000091	D	0.91540	0.7328	L	0.28274	0.84	0.53688	D	0.999979	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.006	D	0.86342	0.1705	10	0.33141	T	0.24	-20.8312	11.4061	0.49898	0.0:0.0:0.287:0.713	.	168;168	A8K9B9;Q9H223	.;EHD4_HUMAN	L	168	ENSP00000220325:I168L	ENSP00000220325:I168L	I	-	1	0	EHD4	40022566	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.529000	0.45632	0.828000	0.34709	0.460000	0.39030	ATC		0.572	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		G	42235274	T	G	42235274	3	3	437	1	0	0	0	0	1	0	0	0	4980	1464	51	5	1139	5	EHD4	15	42235274	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	9912157	42235274	60296118	94	24237											
SPPL2A	84888	genome.wustl.edu	37	15	51028856	51028856	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr15:51028856G>A	ENST00000261854.5	-	7	1089	c.815C>T	c.(814-816)cCa>cTa	p.P272L		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	272					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TTGTCCATATGGTATCTTATG	0.313																																					Melanoma(50;790 1209 4069 22965 33125)											0			15											105	102	103					15																	51028856		2196	4293	6489	48816148	SO:0001583	missense	84888				CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.815C>T	15.37:g.51028856G>A	ENSP00000261854:p.Pro272Leu		48816148	B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252352	0.59212	.	.	ENSG00000138600	ENST00000261854	T	0.18338	2.22	5.61	5.61	0.85477	.	0.175020	0.52532	D	0.000075	T	0.26011	0.0634	N	0.25094	0.71	0.80722	D	1	D	0.60575	0.988	P	0.57244	0.816	T	0.00790	-1.1565	10	0.39692	T	0.17	-10.9098	20.0016	0.97412	0.0:0.0:1.0:0.0	.	272	Q8TCT8	PSL2_HUMAN	L	272	ENSP00000261854:P272L	ENSP00000261854:P272L	P	-	2	0	AC012100.1	48816148	1.000000	0.71417	0.994000	0.49952	0.519000	0.34347	3.428000	0.52792	2.802000	0.96397	0.655000	0.94253	CCA		0.313	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		A	51028856	G	A	51028856	3	1	437	1	0	0	0	0	1	0	0	0	15090	1348	47	2	783	2	SPPL2A	15	51028856	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	8793582	51028856	51502536	95	24238											
VPS13C	54832	genome.wustl.edu	37	15	62214766	62214766	+	Missense_Mutation	SNP	G	G	C	rs372868009		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr15:62214766G>C	ENST00000261517.5	-	54	6878	c.6805C>G	c.(6805-6807)Cat>Gat	p.H2269D	VPS13C_ENST00000249837.3_Missense_Mutation_p.H2226D|VPS13C_ENST00000395898.3_Missense_Mutation_p.H2226D|VPS13C_ENST00000395896.4_Missense_Mutation_p.H2269D	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATCAGTGAATGTTCAATGCCT	0.378																																																0			15						G	ASP/HIS,ASP/HIS,ASP/HIS,ASP/HIS	1,4405	2.1+/-5.4	0,1,2202	175	166	169		6805,6676,6676,6805	2	0	15		169	0,8600		0,0,4300	no	missense,missense,missense,missense	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	81,81,81,81	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	2269/3629,2226/3711,2226/3586,2269/3754	62214766	1,13005	2203	4300	6503	60002058	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6805C>G	15.37:g.62214766G>C	ENSP00000261517:p.His2269Asp		60002058		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.764691	0.00651	2.27E-4	0.0	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.42513	0.97;0.97;0.97	5.07	2.05	0.26809	.	1.015460	0.07829	N	0.961088	T	0.33118	0.0852	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.12630	0.001;0.003;0.0;0.006	B;B;B;B	0.16722	0.007;0.016;0.004;0.005	T	0.31336	-0.9947	10	0.18276	T	0.48	.	8.6127	0.33813	0.0704:0.0:0.5224:0.4072	.	2226;2269;2226;2269	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	D	2226;2269;2269;2269	ENSP00000249837:H2226D;ENSP00000261517:H2269D;ENSP00000379233:H2269D	ENSP00000249837:H2226D	H	-	1	0	VPS13C	60002058	0.011000	0.17503	0.000000	0.03702	0.014000	0.08584	0.986000	0.29590	0.216000	0.20781	0.650000	0.86243	CAT		0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62214766	G	C	62214766	3	2	437	1	0	0	0	0	1	0	0	0	17191	1377	48	3	4612	3	VPS13C	15	62214766	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	11185910	62214766	40316626	96	24239											
SLC28A1	9154	genome.wustl.edu	37	15	85464278	85464278	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr15:85464278C>A	ENST00000286749.3	+	10	1025	c.935C>A	c.(934-936)gCt>gAt	p.A312D	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A312D|SLC28A1_ENST00000537703.1_Missense_Mutation_p.A234D|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A312D|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A312D|SLC28A1_ENST00000538177.1_Missense_Mutation_p.A312D			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	312					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTGAGTGTGGCTGGAAACATC	0.542																																																0			15											112	90	97					15																	85464278		2203	4299	6502	83265282	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.935C>A	15.37:g.85464278C>A	ENSP00000286749:p.Ala312Asp		83265282	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493688	0.84962	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	4.22	4.22	0.49857	Nucleoside recognition (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	H	0.97023	3.925	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.995;0.999;0.996;1.0	T	0.80063	-0.1539	10	0.87932	D	0	-2.8682	14.1551	0.65413	0.0:1.0:0.0:0.0	.	312;312;312;234;312	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	D	312;312;312;312;312;234	ENSP00000440546:A312D;ENSP00000443752:A312D;ENSP00000444700:A312D;ENSP00000286749:A312D;ENSP00000378074:A312D;ENSP00000443764:A234D	ENSP00000286749:A312D	A	+	2	0	SLC28A1	83265282	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	5.325000	0.65869	2.195000	0.70347	0.655000	0.94253	GCT		0.542	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			A	85464278	C	A	85464278	3	1	437	1	0	0	0	0	1	0	0	0	14534	797	28	3	1040	3	SLC28A1	15	85464278	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	23249512	85464278	17067114	97	24240											
AGBL1	123624	genome.wustl.edu	37	15	86813299	86813299	+	Splice_Site	SNP	G	G	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr15:86813299G>T	ENST00000441037.2	+	13	1944		c.e13+1		AGBL1_ENST00000389298.3_Splice_Site|AGBL1_ENST00000421325.2_Splice_Site	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTAATTATGGTATGAACGCT	0.478																																																0			15											33	32	32					15																	86813299		1919	4136	6055	84614303	SO:0001630	splice_region_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1849+1G>T	15.37:g.86813299G>T			84614303	A1A4X5|A6NJH6|C9JHL5	Splice_Site	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613349	0.87359	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7157	0.91675	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGBL1	84614303	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	9.663000	0.98605	2.663000	0.90544	0.561000	0.74099	.		0.478	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	Intron	T	86813299	G	T	86813299	5	4	437	1	0	0	0	0	0	0	1	0	375	1275	44	3	1896	3	AGBL1	15	86813299	Splice_Site	SNP	G	TCGA-61-1910-01A-01W-0639-09	1349021	86813299	15718093	98	24241											
MFGE8	4240	genome.wustl.edu	37	15	89453070	89453070	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr15:89453070T>C	ENST00000566497.1	-	2	219	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	MFGE8_ENST00000539437.1_Missense_Mutation_p.Y45C|MFGE8_ENST00000268150.8_Missense_Mutation_p.Y53C|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.Y53C			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	53	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CGTGCAGGTGTACGAGGGGAA	0.547																																																0			15											183	144	157					15																	89453070		2200	4299	6499	87254074	SO:0001583	missense	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.158A>G	15.37:g.89453070T>C	ENSP00000456281:p.Tyr53Cys		87254074	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813169	0.70912	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437	D;D;D	0.95724	-3.79;-3.79;-3.79	5.39	5.39	0.77823	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	M	0.84082	2.675	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.997;1.0	D	0.98113	1.0421	10	0.59425	D	0.04	-43.6847	14.532	0.67934	0.0:0.0:0.0:1.0	.	45;45;53;53	B3KTQ2;F5H7N9;Q08431-3;Q08431	.;.;.;MFGM_HUMAN	C	53;53;45	ENSP00000268150:Y53C;ENSP00000268151:Y53C;ENSP00000442386:Y45C	ENSP00000268150:Y53C	Y	-	2	0	MFGE8	87254074	1.000000	0.71417	0.039000	0.18376	0.001000	0.01503	4.600000	0.61083	2.181000	0.69327	0.459000	0.35465	TAC		0.547	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		C	89453070	T	C	89453070	3	2	437	1	0	0	0	0	1	0	0	0	9520	1638	57	4	1033	4	MFGE8	15	89453070	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	2639771	89453070	13078322	99	24242											
LRRC28	123355	genome.wustl.edu	37	15	99903409	99903409	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr15:99903409A>G	ENST00000301981.3	+	9	1210	c.970A>G	c.(970-972)Acc>Gcc	p.T324A	LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.T255A|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000331450.5_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	324										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GCCTATGTTTACCATCGTCTA	0.527																																																0			15											116	100	105					15																	99903409		2197	4297	6494	97720932	SO:0001583	missense	123355			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.970A>G	15.37:g.99903409A>G	ENSP00000304923:p.Thr324Ala		97720932	A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.980361	0.92982	.	.	ENSG00000168904	ENST00000301981;ENST00000422500	T;T	0.51817	0.69;1.04	5.76	5.76	0.90799	.	0.044863	0.85682	D	0.000000	T	0.65523	0.2699	M	0.61703	1.905	0.80722	D	1	D;P	0.64830	0.994;0.533	D;B	0.70716	0.97;0.185	T	0.66372	-0.5940	10	0.51188	T	0.08	.	15.2508	0.73545	1.0:0.0:0.0:0.0	.	255;324	B4DHL3;Q86X40	.;LRC28_HUMAN	A	324;255	ENSP00000304923:T324A;ENSP00000398606:T255A	ENSP00000304923:T324A	T	+	1	0	LRRC28	97720932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.785000	0.91822	2.194000	0.70268	0.528000	0.53228	ACC		0.527	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		G	99903409	A	G	99903409	3	3	437	1	0	0	0	0	1	0	0	0	8982	391	14	4	1000	4	LRRC28	15	99903409	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	10450339	99903409	2627983	100	24243											
BTBD12	84464	genome.wustl.edu	37	16	3639412	3639412	+	Silent	SNP	G	G	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr16:3639412G>C	ENST00000294008.3	-	12	4867	c.4227C>G	c.(4225-4227)gcC>gcG	p.A1409A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1409	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGCTTCTGTTGGCCTGATGGG	0.612								Direct reversal of damage																																								0			16											63	68	66					16																	3639412		2174	4252	6426	3579413	SO:0001819	synonymous_variant	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4227C>G	16.37:g.3639412G>C			3579413	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.612	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		C	3639412	G	C	3639412	2	2	437	1	0	0	0	0	0	0	0	1	1540	1335	47	3		3	BTBD12	16	3639412	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09		3639412	86715341	101	24244											
SPG7	6687	genome.wustl.edu	37	16	89620251	89620251	+	Silent	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr16:89620251G>A	ENST00000268704.2	+	15	2001	c.1986G>A	c.(1984-1986)gtG>gtA	p.V662V		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	662					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ACTCCATGGTGAAGCAGTTTG	0.672																																																0			16											102	80	87					16																	89620251		2198	4300	6498	88147752	SO:0001819	synonymous_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1986G>A	16.37:g.89620251G>A			88147752	O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	CCDS10977.1																																																																																				0.672	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		A	89620251	G	A	89620251	2	1	437	1	0	0	0	0	0	0	0	1	15046	1277	45	2		2	SPG7	16	89620251	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	85980839	89620251	734502	102	24245											
TP53	7157	genome.wustl.edu	37	17	7578275	7578275	+	Frame_Shift_Del	DEL	G	G	-			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr17:7578275delG	ENST00000269305.4	-	6	763	c.574delC	c.(574-576)cagfs	p.Q192fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.Q192fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q192fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q192fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q192fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.Q192fs|TP53_ENST00000574684.1_Intron	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCC	0.557		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"	144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	17											89	80	83					17																	7578275		2203	4300	6503	7519000	SO:0001589	frameshift_variant	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.574delC	17.37:g.7578275delG	ENSP00000269305:p.Gln192fs		7519000	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7578275	G	-	7578275	7	5	437	1	0	1	0	1	0	0	0	0	16381	1299	45	0	720	0	TP53	17	7578275	Frame_Shift_Del	DEL	G	TCGA-61-1910-01A-01W-0639-09		7578275	73616935	103	24246											
MYH13	8735	genome.wustl.edu	37	17	10263282	10263282	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr17:10263282T>G	ENST00000418404.3	-	6	803	c.640A>C	c.(640-642)Atg>Ctg	p.M214L	MYH13_ENST00000252172.4_Missense_Mutation_p.M214L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	214	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCACCTGCATTTTGCCTGGC	0.512																																																0			17											71	73	72					17																	10263282		2203	4300	6503	10204007	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.640A>C	17.37:g.10263282T>G	ENSP00000404570:p.Met214Leu		10204007	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414430	0.42817	.	.	ENSG00000006788	ENST00000252172	D	0.86865	-2.18	3.92	3.92	0.45320	Myosin head, motor domain (2);	.	.	.	.	T	0.78052	0.4223	N	0.20304	0.555	0.36145	D	0.847087	B	0.02656	0.0	B	0.06405	0.002	T	0.76408	-0.2970	9	0.32370	T	0.25	.	13.2263	0.59916	0.0:0.0:0.0:1.0	.	214	Q9UKX3	MYH13_HUMAN	L	214	ENSP00000252172:M214L	ENSP00000252172:M214L	M	-	1	0	MYH13	10204007	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	2.940000	0.49003	1.773000	0.52216	0.460000	0.39030	ATG		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		G	10263282	T	G	10263282	3	3	437	1	0	0	0	0	1	0	0	0	10032	1493	52	5	5316	5	MYH13	17	10263282	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	2685007	10263282	70931928	104	24247											
MYH1	4619	genome.wustl.edu	37	17	10406165	10406165	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr17:10406165T>C	ENST00000226207.5	-	24	3095	c.3001A>G	c.(3001-3003)Aag>Gag	p.K1001E	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1001					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGAGAGCCTTCTTCTCCTTG	0.493																																																0			17											153	145	148					17																	10406165		2203	4300	6503	10346890	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3001A>G	17.37:g.10406165T>C	ENSP00000226207:p.Lys1001Glu		10346890	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647205	0.87958	.	.	ENSG00000109061	ENST00000226207	D	0.89939	-2.59	5.24	5.24	0.73138	.	0.000000	0.45126	U	0.000381	D	0.93135	0.7814	H	0.97491	4.015	0.48830	D	0.999716	P	0.36438	0.553	B	0.35899	0.213	D	0.94467	0.7681	10	0.87932	D	0	.	15.4365	0.75152	0.0:0.0:0.0:1.0	.	1001	P12882	MYH1_HUMAN	E	1001	ENSP00000226207:K1001E	ENSP00000226207:K1001E	K	-	1	0	MYH1	10346890	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.915000	0.87484	2.117000	0.64856	0.455000	0.32223	AAG		0.493	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		C	10406165	T	C	10406165	3	2	437	1	0	0	0	0	1	0	0	0	10029	1792	62	4	2886	4	MYH1	17	10406165	Missense_Mutation	SNP	T	TCGA-61-1910-01A-01W-0639-09	142883	10406165	70789045	105	24248											
LLGL2	3993	genome.wustl.edu	37	17	73567116	73567116	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr17:73567116C>G	ENST00000392550.3	+	17	2228	c.2111C>G	c.(2110-2112)tCg>tGg	p.S704W	LLGL2_ENST00000167462.5_Missense_Mutation_p.S704W|LLGL2_ENST00000577200.1_Missense_Mutation_p.S704W	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	704					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGGCTCGCTCGGCAGAGGAC	0.657																																																0			17											65	72	70					17																	73567116		2203	4297	6500	71078711	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2111C>G	17.37:g.73567116C>G	ENSP00000376333:p.Ser704Trp		71078711	Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850752	0.51270	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.52295	0.67;0.67	5.0	5.0	0.66597	.	0.062472	0.64402	D	0.000002	T	0.70631	0.3246	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999	D;D;D;D;D	0.76575	0.983;0.921;0.964;0.978;0.988	T	0.75496	-0.3297	10	0.87932	D	0	-3.4744	18.2923	0.90134	0.0:1.0:0.0:0.0	.	331;693;693;704;704	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	W	704;704;693	ENSP00000167462:S704W;ENSP00000376333:S704W	ENSP00000167462:S704W	S	+	2	0	LLGL2	71078711	1.000000	0.71417	0.915000	0.36163	0.935000	0.57460	7.770000	0.85390	2.338000	0.79540	0.555000	0.69702	TCG		0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		G	73567116	C	G	73567116	3	3	437	1	0	0	0	0	1	0	0	0	8834	893	31	3	2208	3	LLGL2	17	73567116	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	63160951	73567116	7628094	106	24249											
SLC14A2	8170	genome.wustl.edu	37	18	43221298	43221298	+	Silent	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr18:43221298C>T	ENST00000255226.6	+	8	1932	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	SLC14A2_ENST00000586448.1_Silent_p.A372A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	372					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGCTGGCCCTCATCTGTG	0.522																																																0			18											110	85	93					18																	43221298		2203	4300	6503	41475296	SO:0001819	synonymous_variant	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1116C>T	18.37:g.43221298C>T			41475296	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																				0.522	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			T	43221298	C	T	43221298	2	4	437	1	0	0	0	0	0	0	0	1	14400	610	22	2		2	SLC14A2	18	43221298	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09		43221298	34855950	107	24250											
NEDD4L	23327	genome.wustl.edu	37	18	55989692	55989692	+	Silent	SNP	T	T	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr18:55989692T>C	ENST00000400345.3	+	7	667	c.384T>C	c.(382-384)ttT>ttC	p.F128F	NEDD4L_ENST00000356462.6_Silent_p.F128F|NEDD4L_ENST00000456986.1_Silent_p.F7F|NEDD4L_ENST00000435432.2_Silent_p.F7F|NEDD4L_ENST00000456173.2_Silent_p.F7F|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Silent_p.F7F|NEDD4L_ENST00000431212.2_Silent_p.F7F|NEDD4L_ENST00000256830.9_Silent_p.F128F|NEDD4L_ENST00000586263.1_Silent_p.F120F|NEDD4L_ENST00000382850.4_Silent_p.F128F|NEDD4L_ENST00000357895.5_Silent_p.F120F	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	128					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCTATACATTTAAGGACTTTC	0.453											OREG0025007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			18											44	41	42					18																	55989692		1868	4096	5964	54140672	SO:0001819	synonymous_variant	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.384T>C	18.37:g.55989692T>C		1012	54140672	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	ENST00000400345.3	37	CCDS45872.1																																																																																				0.453	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			C	55989692	T	C	55989692	2	2	437	1	0	0	0	0	0	0	0	1	10311	1751	61	4		4	NEDD4L	18	55989692	Silent	SNP	T	TCGA-61-1910-01A-01W-0639-09	12768394	55989692	22087556	108	24251											
MALT1	10892	genome.wustl.edu	37	18	56376637	56376637	+	Missense_Mutation	SNP	A	A	G	rs149988025	byFrequency	TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr18:56376637A>G	ENST00000348428.3	+	5	935	c.677A>G	c.(676-678)aAg>aGg	p.K226R	MALT1_ENST00000345724.3_Missense_Mutation_p.K226R|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	226	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TCTGAATCCAAGTTGCAAATC	0.358			T	BIRC3	MALT																																		Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0			18						A	ARG/LYS,ARG/LYS	0,4406	2.1+/-5.4	0,0,2203	124	115	118		677,677	-0.9	0.9	18	dbSNP_134	118	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	MALT1	NM_006785.2,NM_173844.1	26,26	0,9,6494	GG,GA,AA		0.1047,0.0,0.0692	benign,benign	226/825,226/814	56376637	9,12997	2203	4300	6503	54527617	SO:0001583	missense	10892				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.677A>G	18.37:g.56376637A>G	ENSP00000319279:p.Lys226Arg		54527617	Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	A	9.030	0.987134	0.18889	0.0	0.001047	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.03889	3.77;3.77	5.17	-0.927	0.10451	Immunoglobulin-like (1);	0.343803	0.34178	N	0.004182	T	0.01976	0.0062	N	0.10972	0.075	0.24492	N	0.994296	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47262	-0.9131	10	0.11794	T	0.64	.	5.6398	0.17557	0.4608:0.1506:0.3886:0.0	.	226;226	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	R	226	ENSP00000319279:K226R;ENSP00000304161:K226R	ENSP00000304161:K226R	K	+	2	0	MALT1	54527617	0.011000	0.17503	0.908000	0.35775	0.989000	0.77384	-0.042000	0.12063	-0.320000	0.08640	0.533000	0.62120	AAG		0.358	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			G	56376637	A	G	56376637	3	3	437	1	0	0	0	0	1	0	0	0	9202	72	3	4	695	4	MALT1	18	56376637	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	386945	56376637	21700611	109	24252											
GCDH	2639	genome.wustl.edu	37	19	13007161	13007161	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr19:13007161G>A	ENST00000222214.5	+	8	989	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	GCDH_ENST00000591470.1_Missense_Mutation_p.A260T|GCDH_ENST00000457854.1_Missense_Mutation_p.A260T|GCDH_ENST00000422947.2_Missense_Mutation_p.A216T			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	260					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GCGGGCCTCAGCCACAGGCAT	0.622																																					GBM(123;875 1636 7726 16444 26754)											0			19											55	54	55					19																	13007161		2203	4300	6503	12868161	SO:0001583	missense	2639			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.778G>A	19.37:g.13007161G>A	ENSP00000222214:p.Ala260Thr		12868161	A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770094	0.31320	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.98862	-5.19;-5.19;-5.19	5.22	-1.07	0.09968	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.491354	0.22737	N	0.056244	D	0.94311	0.8172	L	0.27053	0.805	0.31676	N	0.64376	B;B;B;B;B	0.23891	0.093;0.02;0.0;0.001;0.002	B;B;B;B;B	0.16722	0.016;0.007;0.002;0.003;0.012	D	0.89939	0.4071	10	0.37606	T	0.19	.	6.0495	0.19777	0.1504:0.0:0.462:0.3876	.	216;96;227;260;260	B4DK85;B4DUY0;B4DQF2;Q92947;Q92947-2	.;.;.;GCDH_HUMAN;.	T	260;260;227;216	ENSP00000394872:A260T;ENSP00000222214:A260T;ENSP00000394821:A216T	ENSP00000222214:A260T	A	+	1	0	GCDH	12868161	0.690000	0.27699	0.129000	0.21949	0.426000	0.31534	0.861000	0.27885	-0.007000	0.14345	0.563000	0.77884	GCC		0.622	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			A	13007161	G	A	13007161	3	1	437	1	0	0	0	0	1	0	0	0	6287	971	34	2	804	2	GCDH	19	13007161	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09		13007161	46121822	110	24253											
ZNF383	163087	genome.wustl.edu	37	19	37726922	37726922	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr19:37726922C>A	ENST00000589413.1	+	7	761	c.178C>A	c.(178-180)Caa>Aaa	p.Q60K	ZNF383_ENST00000352998.3_Missense_Mutation_p.Q60K|ZNF383_ENST00000590503.1_Missense_Mutation_p.Q60K			Q8NA42	ZN383_HUMAN	zinc finger protein 383	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTATTGGAACAAGGGAAAGA	0.483																																																0			19											127	119	122					19																	37726922		2203	4300	6503	42418762	SO:0001583	missense	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.178C>A	19.37:g.37726922C>A	ENSP00000464871:p.Gln60Lys		42418762	Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265421	0.40095	.	.	ENSG00000188283	ENST00000352998	T	0.00949	5.51	3.39	3.39	0.38822	Krueppel-associated box (3);	0.000000	0.31020	N	0.008417	T	0.01029	0.0034	L	0.48218	1.51	0.22034	N	0.999408	B	0.30406	0.278	B	0.24974	0.057	T	0.49437	-0.8940	9	.	.	.	.	8.9104	0.35550	0.0:0.7707:0.2293:0.0	.	60	Q8NA42	ZN383_HUMAN	K	60	ENSP00000340132:Q60K	.	Q	+	1	0	ZNF383	42418762	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	1.804000	0.38873	2.179000	0.69175	0.563000	0.77884	CAA		0.483	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		A	37726922	C	A	37726922	3	1	437	1	0	0	0	0	1	0	0	0	17874	479	17	3	188	3	ZNF383	19	37726922	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	24719761	37726922	21402061	111	24254											
DKKL1	27120	genome.wustl.edu	37	19	49868869	49868869	+	Missense_Mutation	SNP	G	G	T	rs150574340		TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr19:49868869G>T	ENST00000221498.2	+	3	692	c.287G>T	c.(286-288)gGg>gTg	p.G96V	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	96					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACCAGCTGGGGAACAACACC	0.602																																																0			19											93	84	87					19																	49868869		2203	4300	6503	54560681	SO:0001583	missense	27120			AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.287G>T	19.37:g.49868869G>T	ENSP00000221498:p.Gly96Val		54560681		Missense_Mutation	SNP	ENST00000221498.2	37	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760360	0.69763	.	.	ENSG00000104901	ENST00000221498	T	0.28454	1.61	4.85	4.85	0.62838	.	0.000000	0.43919	D	0.000513	T	0.55130	0.1901	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.59563	-0.7431	10	0.87932	D	0	-33.6717	13.8494	0.63487	0.0:0.0:1.0:0.0	.	96	Q9UK85	DKKL1_HUMAN	V	96	ENSP00000221498:G96V	ENSP00000221498:G96V	G	+	2	0	DKKL1	54560681	1.000000	0.71417	0.986000	0.45419	0.932000	0.56968	4.826000	0.62715	2.411000	0.81874	0.561000	0.74099	GGG		0.602	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		T	49868869	G	T	49868869	3	4	437	1	0	0	0	0	1	0	0	0	4548	1232	43	3	297	3	DKKL1	19	49868869	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	12141947	49868869	9260114	112	24255											
VRK3	51231	genome.wustl.edu	37	19	50510925	50510925	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr19:50510925C>T	ENST00000599538.1	-	5	1112	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	VRK3_ENST00000593919.1_Missense_Mutation_p.E150K|VRK3_ENST00000601912.1_Missense_Mutation_p.E100K|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.E150K|VRK3_ENST00000601341.1_Missense_Mutation_p.E100K|VRK3_ENST00000594092.1_Missense_Mutation_p.E150K|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.E150K|VRK3_ENST00000377011.2_Missense_Mutation_p.E100K			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	150					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGCAAAGCTTCAAGTGAGGTG	0.582																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)											0			19											204	158	174					19																	50510925		2203	4300	6503	55202737	SO:0001583	missense	51231			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.448G>A	19.37:g.50510925C>T	ENSP00000469880:p.Glu150Lys		55202737	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489614	0.44249	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.26067	1.76;1.79	4.45	-1.8	0.07907	.	0.364836	0.29972	N	0.010721	T	0.20577	0.0495	M	0.62209	1.925	0.19775	N	0.999953	B;B;B;B;B	0.19445	0.036;0.03;0.005;0.017;0.017	B;B;B;B;B	0.17433	0.012;0.018;0.008;0.009;0.009	T	0.16837	-1.0389	10	0.44086	T	0.13	-14.3564	6.4312	0.21798	0.0:0.3603:0.46:0.1797	.	150;150;150;100;150	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	K	150;100;150	ENSP00000324636:E150K;ENSP00000366210:E100K	ENSP00000324636:E150K	E	-	1	0	VRK3	55202737	0.010000	0.17322	0.052000	0.19188	0.881000	0.50899	-0.429000	0.06982	-0.134000	0.11516	0.655000	0.94253	GAA		0.582	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		T	50510925	C	T	50510925	3	4	437	1	0	0	0	0	1	0	0	0	17221	835	29	2	1016	2	VRK3	19	50510925	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	642056	50510925	8618058	113	24256											
TGM6	343641	genome.wustl.edu	37	20	2380266	2380266	+	Silent	SNP	C	C	T	rs200686759	byFrequency	TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr20:2380266C>T	ENST00000202625.2	+	6	793	c.732C>T	c.(730-732)ggC>ggT	p.G244G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G244G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	244					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGTACGGCGGCGGCACCAGCC	0.647													C|||	2	0.000399361	0	0	5008	,	,		12312	0.001		0.001	False		,,,				2504	0															0			20											69	58	62					20																	2380266		2203	4300	6503	2328266	SO:0001819	synonymous_variant	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.732C>T	20.37:g.2380266C>T			2328266	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	CCDS13025.1																																																																																				0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		T	2380266	C	T	2380266	2	4	437	1	0	0	0	0	0	0	0	1	15834	755	27	1		1	TGM6	20	2380266	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09		2380266	60645254	114	24257											
FLRT3	23767	genome.wustl.edu	37	20	14307301	14307301	+	Silent	SNP	A	A	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr20:14307301A>G	ENST00000378053.3	-	2	1108	c.852T>C	c.(850-852)agT>agC	p.S284S	FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.S284S	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	284					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GAGGTAAATTACTTAGGTTAT	0.403																																																0			20											54	56	55					20																	14307301		2203	4300	6503	14255301	SO:0001819	synonymous_variant	23767			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.852T>C	20.37:g.14307301A>G			14255301	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	CCDS13121.1																																																																																				0.403	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		G	14307301	A	G	14307301	2	3	437	1	0	0	0	0	0	0	0	1	5940	388	14	4		4	FLRT3	20	14307301	Silent	SNP	A	TCGA-61-1910-01A-01W-0639-09	11927035	14307301	48718219	115	24258											
KIF16B	55614	genome.wustl.edu	37	20	16354921	16354921	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr20:16354921C>A	ENST00000354981.2	-	20	3488	c.3331G>T	c.(3331-3333)Gtt>Ttt	p.V1111F	KIF16B_ENST00000355755.3_Missense_Mutation_p.V1111F|KIF16B_ENST00000378003.2_Missense_Mutation_p.V337F|KIF16B_ENST00000408042.1_Missense_Mutation_p.V1111F	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1111					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATGAGGGGAACCAGGTGTGAT	0.458																																																0			20											105	92	97					20																	16354921		2203	4300	6503	16302921	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3331G>T	20.37:g.16354921C>A	ENSP00000347076:p.Val1111Phe		16302921	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989185	0.53934	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.71103	-0.54;-0.54;2.43;-0.54	5.57	-0.159	0.13379	.	1.176350	0.06046	N	0.655697	T	0.56630	0.1998	L	0.29908	0.895	0.09310	N	1	P;B	0.44380	0.834;0.148	B;B	0.37144	0.242;0.054	T	0.51172	-0.8739	10	0.56958	D	0.05	.	9.0442	0.36336	0.0:0.3828:0.48:0.1372	.	1111;1111	Q96L93-2;Q96L93	.;KI16B_HUMAN	F	1111;1111;955;337;1111	ENSP00000347076:V1111F;ENSP00000347995:V1111F;ENSP00000367242:V337F;ENSP00000384164:V1111F	ENSP00000347076:V1111F	V	-	1	0	KIF16B	16302921	0.000000	0.05858	0.002000	0.10522	0.515000	0.34225	-0.558000	0.05978	0.023000	0.15187	0.643000	0.83706	GTT		0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		A	16354921	C	A	16354921	3	1	437	1	0	0	0	0	1	0	0	0	8278	507	18	3	650	3	KIF16B	20	16354921	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	2047620	16354921	46670599	116	24259											
HSF2BP	11077	genome.wustl.edu	37	21	45050276	45050276	+	Silent	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr21:45050276C>T	ENST00000291560.2	-	6	832	c.501G>A	c.(499-501)tcG>tcA	p.S167S	HSF2BP_ENST00000542962.1_Silent_p.S92S	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	167					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CACCGTCTAACGACTTCACAA	0.428																																																0			21											115	91	99					21																	45050276		2203	4300	6503	43874704	SO:0001819	synonymous_variant	11077			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.501G>A	21.37:g.45050276C>T			43874704	B4DX36	Silent	SNP	ENST00000291560.2	37	CCDS13697.1																																																																																				0.428	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		T	45050276	C	T	45050276	2	4	437	1	0	0	0	0	0	0	0	1	7397	523	19	1		1	HSF2BP	21	45050276	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09		45050276	3079619	117	24260											
MYH9	4627	genome.wustl.edu	37	22	36695039	36695039	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chr22:36695039G>A	ENST00000216181.5	-	24	3256	c.3026C>T	c.(3025-3027)aCa>aTa	p.T1009I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1009					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCCTCTTCTGTGAGGTTGGT	0.512			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0			22											251	205	220					22																	36695039		2203	4300	6503	35024985	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3026C>T	22.37:g.36695039G>A	ENSP00000216181:p.Thr1009Ile		35024985	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467689	0.43839	.	.	ENSG00000100345	ENST00000216181	D	0.87571	-2.27	5.84	-2.41	0.06562	.	0.441156	0.25765	N	0.028441	T	0.79816	0.4511	L	0.44542	1.39	0.31396	N	0.677283	B	0.13145	0.007	B	0.17433	0.018	T	0.71941	-0.4440	10	0.72032	D	0.01	.	10.9143	0.47126	0.3811:0.0:0.6189:0.0	.	1009	P35579	MYH9_HUMAN	I	1009	ENSP00000216181:T1009I	ENSP00000216181:T1009I	T	-	2	0	MYH9	35024985	0.994000	0.37717	0.866000	0.34008	0.939000	0.58152	2.310000	0.43708	-0.262000	0.09392	-0.459000	0.05422	ACA		0.512	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		A	36695039	G	A	36695039	3	1	437	1	0	0	0	0	1	0	0	0	10042	1377	48	2	2928	2	MYH9	22	36695039	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09		36695039	14609527	118	24261											
ZNF673	55634	genome.wustl.edu	37	X	46332267	46332267	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chrX:46332267G>C	ENST00000344302.4	+	6	967	c.336G>C	c.(334-336)aaG>aaC	p.K112N	KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000298190.6_Missense_Mutation_p.K107N	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	112					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										TCATAGGCAAGGAAACACTGA	0.398																																																0			X											121	105	111					X																	46332267		2203	4300	6503	46217211	SO:0001583	missense	55634				CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"-"	26007	protein-coding gene	gene with protein product	"hypothetical protein FLJ20344"	300585	"zinc finger protein 673", "zinc finger family member 673"	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.336G>C	X.37:g.46332267G>C	ENSP00000345797:p.Lys112Asn		46217211	A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	ENST00000344302.4	37	CCDS48097.1	.	.	.	.	.	.	.	.	.	.	G	1.051	-0.675911	0.03378	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00840	5.63;5.69	2.39	2.39	0.29439	.	.	.	.	.	T	0.00695	0.0023	N	0.20357	0.565	0.09310	N	0.999999	B;B	0.24043	0.096;0.058	B;B	0.20955	0.014;0.032	T	0.42916	-0.9423	9	0.06757	T	0.87	-2.1339	7.5408	0.27737	0.0:0.0:1.0:0.0	.	112;107	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	N	112;107;112	ENSP00000345797:K112N;ENSP00000298190:K107N	ENSP00000298190:K107N	K	+	3	2	ZNF673	46217211	0.000000	0.05858	0.162000	0.22713	0.605000	0.37080	0.087000	0.14958	1.480000	0.48289	0.544000	0.68410	AAG		0.398	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056359.2	NM_017776		C	46332267	G	C	46332267	3	2	437	1	0	0	0	0	1	0	0	0	18080	991	35	3	398	3	ZNF673	23	46332267	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09		46332267	108938293	119	24262											
RP2	6102	genome.wustl.edu	37	X	46719515	46719515	+	Silent	SNP	C	C	T			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chrX:46719515C>T	ENST00000218340.3	+	3	1022	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	287					cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						AAGCACCTGACTTCCTTCCTC	0.383																																																0			X											95	84	88					X																	46719515		2203	4300	6503	46604459	SO:0001819	synonymous_variant	6102			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.861C>T	X.37:g.46719515C>T			46604459	Q86XJ7|Q9NU67	Silent	SNP	ENST00000218340.3	37	CCDS14270.1																																																																																				0.383	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915		T	46719515	C	T	46719515	2	4	437	1	0	0	0	0	0	0	0	1	13537	564	20	2		2	RP2	23	46719515	Silent	SNP	C	TCGA-61-1910-01A-01W-0639-09	387248	46719515	108551045	120	24263											
EDA	1896	genome.wustl.edu	37	X	69253373	69253373	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chrX:69253373G>A	ENST00000374552.4	+	7	1161	c.919G>A	c.(919-921)Gta>Ata	p.V307I	EDA_ENST00000524573.1_Splice_Site|EDA_ENST00000374553.2_Splice_Site	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	307			V -> G (in XHED). {ECO:0000269|PubMed:18231121}.		cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTATAGTCAGGTAGAAGTGAG	0.537											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											96	69	78					X																	69253373		2203	4300	6503	69170098	SO:0001583	missense	1896			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.919G>A	X.37:g.69253373G>A	ENSP00000363680:p.Val307Ile	1113	69170098	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Splice_Site	SNP	ENST00000374552.4	37	CCDS14394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.723808|4.723808	0.89298|0.89298	.|.	.|.	ENSG00000158813|ENSG00000158813	ENST00000374553;ENST00000524573|ENST00000374552	.|D	.|0.95690	.|-3.78	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Tumour necrosis factor (3);Tumour necrosis factor-like (2);	.|0.000000	.|0.64402	.|D	.|0.000001	.|D	.|0.96664	.|0.8911	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	.|D	.|0.57257	.|0.979	.|D	.|0.70487	.|0.969	.|D	.|0.96273	.|0.9200	.|9	.|.	.|.	.|.	.|-6.5153	17.2271|17.2271	0.86973|0.86973	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|307	.|Q92838	.|EDA_HUMAN	.|I	-1|307	.|ENSP00000363680:V307I	.|.	.|V	+|+	.|1	.|0	EDA|EDA	69170098|69170098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.238000|9.238000	0.95380|0.95380	2.279000|2.279000	0.76181|0.76181	0.600000|0.600000	0.82982|0.82982	.|GTA		0.537	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		A	69253373	G	A	69253373	3	1	437	1	0	0	0	0	1	0	0	0	4903	1275	44	2	1081	2	EDA	23	69253373	Missense_Mutation	SNP	G	TCGA-61-1910-01A-01W-0639-09	22533858	69253373	86017187	121	24264											
MAGEE1	57692	genome.wustl.edu	37	X	75649202	75649202	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chrX:75649202C>A	ENST00000361470.2	+	1	1157	c.879C>A	c.(877-879)agC>agA	p.S293R		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	293	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGGGATCAAGCACCTCCGTGC	0.706																																																0			X											26	23	24					X																	75649202		2198	4298	6496	75565606	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.879C>A	X.37:g.75649202C>A	ENSP00000354912:p.Ser293Arg		75565606	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983587	0.18889	.	.	ENSG00000198934	ENST00000361470	T	0.24538	1.85	1.6	1.6	0.23607	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.44690	0.841	B	0.32211	0.142	T	0.14643	-1.0465	9	0.66056	D	0.02	.	3.6277	0.08119	0.0:0.7499:0.0:0.2501	.	293	Q9HCI5	MAGE1_HUMAN	R	293	ENSP00000354912:S293R	ENSP00000354912:S293R	S	+	3	2	MAGEE1	75565606	0.001000	0.12720	0.004000	0.12327	0.021000	0.10359	1.330000	0.33781	1.063000	0.40649	0.431000	0.28591	AGC		0.706	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		A	75649202	C	A	75649202	3	1	437	1	0	0	0	0	1	0	0	0	9185	709	25	3	881	3	MAGEE1	23	75649202	Missense_Mutation	SNP	C	TCGA-61-1910-01A-01W-0639-09	6395829	75649202	79621358	122	24265											
DRP2	1821	genome.wustl.edu	37	X	100506033	100506033	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chrX:100506033A>G	ENST00000395209.3	+	16	2353	c.1826A>G	c.(1825-1827)aAg>aGg	p.K609R	DRP2_ENST00000541709.1_Missense_Mutation_p.K531R|DRP2_ENST00000402866.1_Missense_Mutation_p.K609R|DRP2_ENST00000538510.1_Missense_Mutation_p.K609R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	609					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CATCAGACCAAGTGCTCTATC	0.498																																																0			X											153	126	135					X																	100506033		2203	4300	6503	100392689	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1826A>G	X.37:g.100506033A>G	ENSP00000378635:p.Lys609Arg		100392689	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064585	0.76187	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	6.06	6.06	0.98353	Zinc finger, ZZ-type (3);	0.052902	0.64402	D	0.000001	D	0.93812	0.8021	L	0.35644	1.08	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94462	0.7677	10	0.66056	D	0.02	-23.6056	15.4998	0.75687	1.0:0.0:0.0:0.0	.	609	Q13474	DRP2_HUMAN	R	609;609;531;609	ENSP00000385038:K609R;ENSP00000378635:K609R;ENSP00000444752:K531R;ENSP00000441051:K609R	ENSP00000378635:K609R	K	+	2	0	DRP2	100392689	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.219000	0.78000	2.044000	0.60594	0.486000	0.48141	AAG		0.498	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		G	100506033	A	G	100506033	3	3	437	1	0	0	0	0	1	0	0	0	4764	72	3	4	1880	4	DRP2	23	100506033	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	24856831	100506033	54764527	123	24266											
COL4A5	1287	genome.wustl.edu	37	X	107783015	107783015	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chrX:107783015A>C	ENST00000361603.2	+	2	365	c.121A>C	c.(121-123)Agt>Cgt	p.S41R	COL4A5_ENST00000328300.6_Missense_Mutation_p.S41R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	41	Nonhelical region (NC2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTGTGACTGCAGTGGCATAAA	0.343									Alport syndrome with Diffuse Leiomyomatosis																																							0			X											149	134	139					X																	107783015		2203	4300	6503	107669671	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.121A>C	X.37:g.107783015A>C	ENSP00000354505:p.Ser41Arg		107669671	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144187	0.37825	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93189	-3.18;-3.18	4.98	2.4	0.29515	.	0.275476	0.39407	N	0.001364	D	0.84424	0.5469	N	0.16862	0.45	0.40227	D	0.977808	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.72381	-0.4311	10	0.22706	T	0.39	.	8.4791	0.33032	0.6182:0.3818:0.0:0.0	.	41;41	E7EVY4;P29400	.;CO4A5_HUMAN	R	41	ENSP00000331902:S41R;ENSP00000354505:S41R	ENSP00000331902:S41R	S	+	1	0	COL4A5	107669671	0.995000	0.38212	0.623000	0.29173	0.987000	0.75469	1.606000	0.36826	0.148000	0.19059	0.481000	0.45027	AGT		0.343	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			C	107783015	A	C	107783015	3	2	437	1	0	0	0	0	1	0	0	0	3694	188	7	5	127	5	COL4A5	23	107783015	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	7276982	107783015	47487545	124	24267											
RGAG1	57529	genome.wustl.edu	37	X	109697238	109697238	+	Silent	SNP	G	G	A			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chrX:109697238G>A	ENST00000465301.2	+	3	3639	c.3393G>A	c.(3391-3393)gcG>gcA	p.A1131A	RGAG1_ENST00000540313.1_Silent_p.A1131A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1131										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTGAAACTGCGAAACCACCAC	0.542																																																0			X											175	156	162					X																	109697238		2203	4300	6503	109583894	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3393G>A	X.37:g.109697238G>A			109583894	Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																				0.542	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		A	109697238	G	A	109697238	2	1	437	1	0	0	0	0	0	0	0	1	13277	1045	37	1		1	RGAG1	23	109697238	Silent	SNP	G	TCGA-61-1910-01A-01W-0639-09	1914223	109697238	45573322	125	24268											
LRCH2	57631	genome.wustl.edu	37	X	114418981	114418981	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1910-01A-01W-0639-09	TCGA-61-1910-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3d4c15e7-3706-41ec-9443-38d89c9646aa	6f5d55e5-eb09-4296-a789-b326d3d50fdd	g.chrX:114418981A>C	ENST00000317135.8	-	3	644	c.614T>G	c.(613-615)aTg>aGg	p.M205R	LRCH2_ENST00000538422.1_Missense_Mutation_p.M205R	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	205										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CACCAATTCCATTAAATCTTT	0.279																																																0			X											45	42	42					X																	114418981		1789	4058	5847	114325237	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.614T>G	X.37:g.114418981A>C	ENSP00000325091:p.Met205Arg		114325237	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654425	0.47467	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.55413	0.52;0.52	5.66	5.66	0.87406	.	0.084614	0.85682	D	0.000000	T	0.41396	0.1157	N	0.00996	-1.065	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.99;0.997	T	0.53975	-0.8362	10	0.14252	T	0.57	-13.3373	13.6488	0.62299	1.0:0.0:0.0:0.0	.	205;205	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	R	205	ENSP00000325091:M205R;ENSP00000439366:M205R	ENSP00000325091:M205R	M	-	2	0	LRCH2	114325237	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.730000	0.91510	1.904000	0.55121	0.376000	0.23039	ATG		0.279	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		C	114418981	A	C	114418981	3	2	437	1	0	0	0	0	1	0	0	0	8933	217	8	5	1759	5	LRCH2	23	114418981	Missense_Mutation	SNP	A	TCGA-61-1910-01A-01W-0639-09	4721743	114418981	40851579	126	24269											
KIF1B	23095	genome.wustl.edu	37	1	10403309	10403309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:10403309C>T	ENST00000377086.1	+	34	3854	c.3652C>T	c.(3652-3654)Cga>Tga	p.R1218*	KIF1B_ENST00000377081.1_Nonsense_Mutation_p.R1218*|KIF1B_ENST00000263934.6_Nonsense_Mutation_p.R1172*			O60333	KIF1B_HUMAN	kinesin family member 1B	1218					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGTGCCGCCGATTCTTCCC	0.453																																																0			1											94	93	93					1																	10403309		2203	4300	6503	10325896	SO:0001587	stop_gained	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3652C>T	1.37:g.10403309C>T	ENSP00000366290:p.Arg1218*		10325896	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Nonsense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	C	38	6.868284	0.97897	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	.	.	.	4.78	0.431	0.16523	.	0.057925	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3594	0.38186	0.5186:0.4109:0.0:0.0705	.	.	.	.	X	1218;1172;1218;1218	.	ENSP00000263934:R1172X	R	+	1	2	KIF1B	10325896	0.990000	0.36364	0.233000	0.24025	0.199000	0.23934	1.837000	0.39201	-0.109000	0.12044	0.655000	0.94253	CGA		0.453	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10403309	C	T	10403309	4	4	438	1	0	0	0	0	0	1	0	0	8284	644	23	1	5125	1	KIF1B	1	10403309	Nonsense_Mutation	SNP	C	TCGA-61-1911-01A-01W-0639-09		10403309	238847312	1	24270											
TOE1	114034	genome.wustl.edu	37	1	45808946	45808946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:45808946C>T	ENST00000372090.5	+	8	1688	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	TOE1_ENST00000539779.1_Nonsense_Mutation_p.Q289*|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|TESK2_ENST00000486676.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	369						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TCCCAAGAAGCAGGTCTGTGG	0.552																																																0			1											97	103	101					1																	45808946		2203	4300	6503	45581533	SO:0001587	stop_gained	114034				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1105C>T	1.37:g.45808946C>T	ENSP00000361162:p.Gln369*		45581533	B4DEM6|Q6IA35|Q8IWN5|Q9H846	Nonsense_Mutation	SNP	ENST00000372090.5	37	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	40	8.175770	0.98691	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	.	.	.	5.99	5.99	0.97316	.	0.109407	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.5477	17.3714	0.87379	0.0:0.8756:0.1244:0.0	.	.	.	.	X	369;289	.	ENSP00000361162:Q369X	Q	+	1	0	TOE1	45581533	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.348000	0.59379	2.840000	0.97914	0.655000	0.94253	CAG		0.552	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		T	45808946	C	T	45808946	4	4	438	1	0	0	0	0	0	1	0	0	16349	711	25	2	1135	2	TOE1	1	45808946	Nonsense_Mutation	SNP	C	TCGA-61-1911-01A-01W-0639-09	35405637	45808946	203441675	2	24271											
IFI44L	10964	genome.wustl.edu	37	1	79093647	79093647	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:79093647G>C	ENST00000370751.5	+	2	226	c.47G>C	c.(46-48)cGc>cCc	p.R16P	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	16					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AATCATCTGCGCAAGCTGCTT	0.363																																																0			1											103	92	95					1																	79093647		692	1591	2283	78866235	SO:0001583	missense	10964			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.47G>C	1.37:g.79093647G>C	ENSP00000359787:p.Arg16Pro		78866235	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643831	0.29246	.	.	ENSG00000137959	ENST00000452835;ENST00000370751	T;T	0.31769	1.48;3.08	3.13	-0.956	0.10353	.	0.537282	0.17421	N	0.174807	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	1	P	0.50528	0.936	B	0.37480	0.251	T	0.29336	-1.0015	10	0.48119	T	0.1	.	2.3776	0.04346	0.3973:0.0:0.2329:0.3698	.	16	Q53G44	IF44L_HUMAN	P	16	ENSP00000409914:R16P;ENSP00000359787:R16P	ENSP00000359787:R16P	R	+	2	0	IFI44L	78866235	0.038000	0.19896	0.000000	0.03702	0.495000	0.33615	0.363000	0.20301	-0.174000	0.10743	-0.474000	0.04947	CGC		0.363	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		C	79093647	G	C	79093647	3	2	438	1	0	0	0	0	1	0	0	0	7518	1087	38	3	49	3	IFI44L	1	79093647	Missense_Mutation	SNP	G	TCGA-61-1911-01A-01W-0639-09	33284701	79093647	170156974	3	24272											
SLC30A7	148867	genome.wustl.edu	37	1	101362171	101362171	+	Silent	SNP	G	G	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:101362171G>A	ENST00000370112.4	+	2	313	c.126G>A	c.(124-126)ctG>ctA	p.L42L	EXTL2_ENST00000480774.1_5'Flank|RP4-549L20.3_ENST00000609247.1_RNA|EXTL2_ENST00000535414.1_5'Flank|SLC30A7_ENST00000357650.4_Silent_p.L42L|EXTL2_ENST00000370113.3_5'Flank|EXTL2_ENST00000370114.3_5'Flank	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	42					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TTTTCTTCCTGTGCCTGAACC	0.527																																					NSCLC(91;473 1491 3102 16827 21633)											0			1											143	125	131					1																	101362171		2203	4300	6503	101134759	SO:0001819	synonymous_variant	148867			AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"Solute carriers"	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.126G>A	1.37:g.101362171G>A			101134759	B2R949|D3DT61|Q8TCH2	Silent	SNP	ENST00000370112.4	37	CCDS776.1																																																																																				0.527	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		A	101362171	G	A	101362171	2	1	438	1	0	0	0	0	0	0	0	1	14563	1364	48	2		2	SLC30A7	1	101362171	Silent	SNP	G	TCGA-61-1911-01A-01W-0639-09	22268524	101362171	147888450	4	24273											
TXNIP	10628	genome.wustl.edu	37	1	145440432	145440432	+	Silent	SNP	A	A	G			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:145440432A>G	ENST00000369317.4	+	5	1072	c.738A>G	c.(736-738)acA>acG	p.T246T	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	246					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTCAGGGACATGCGCATCAT	0.517																																																0			1											119	113	115					1																	145440432		2203	4300	6503	144151789	SO:0001819	synonymous_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.738A>G	1.37:g.145440432A>G			144151789	B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	CCDS913.1																																																																																				0.517	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		G	145440432	A	G	145440432	2	3	438	1	0	0	0	0	0	0	0	1	16803	204	8	4		4	TXNIP	1	145440432	Silent	SNP	A	TCGA-61-1911-01A-01W-0639-09	44078261	145440432	103810189	5	24274											
LIX1L	128077	genome.wustl.edu	37	1	145498127	145498127	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:145498127C>G	ENST00000369308.3	+	5	792	c.718C>G	c.(718-720)Cta>Gta	p.L240V	RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	240										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTTCAACTGCTACACTGGAA	0.478																																																0			1											99	94	96					1																	145498127		2203	4300	6503	144209484	SO:0001583	missense	128077			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"Lix1 homolog (mouse) like", "Lix1 homolog (chicken)-like"			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.718C>G	1.37:g.145498127C>G	ENSP00000358314:p.Leu240Val		144209484	Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	CCDS915.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569967	0.65765	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	4.98	0.684	0.18003	.	0.000000	0.64402	D	0.000001	T	0.67363	0.2885	M	0.78049	2.395	0.46061	D	0.998849	D	0.89917	1.0	D	0.85130	0.997	T	0.69914	-0.5016	9	0.87932	D	0	-20.4097	8.6137	0.33817	0.0:0.6321:0.0:0.3679	.	240	Q8IVB5	LIX1L_HUMAN	V	240;187	.	ENSP00000358314:L240V	L	+	1	2	LIX1L	144209484	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	0.823000	0.27366	0.274000	0.22072	-0.251000	0.11542	CTA		0.478	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		G	145498127	C	G	145498127	3	3	438	1	0	0	0	0	1	0	0	0	8832	796	28	3	736	3	LIX1L	1	145498127	Missense_Mutation	SNP	C	TCGA-61-1911-01A-01W-0639-09	57695	145498127	103752494	6	24275											
TNN	63923	genome.wustl.edu	37	1	175087877	175087877	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr1:175087877G>C	ENST00000239462.4	+	11	2680	c.2567G>C	c.(2566-2568)aGg>aCg	p.R856T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	856	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACGGGCCTGAGGCCGGGCATG	0.592																																																0			1											88	74	78					1																	175087877		2203	4300	6503	173354500	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2567G>C	1.37:g.175087877G>C	ENSP00000239462:p.Arg856Thr		173354500	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673630	0.29693	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57595	0.39	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.220732	0.48286	D	0.000189	T	0.56217	0.1970	L	0.48362	1.52	0.41122	D	0.985824	D	0.67145	0.996	D	0.64687	0.928	T	0.53837	-0.8382	10	0.16896	T	0.51	.	6.2704	0.20951	0.1264:0.1799:0.6936:0.0	.	856	Q9UQP3	TENN_HUMAN	T	856;679	ENSP00000239462:R856T	ENSP00000239462:R856T	R	+	2	0	TNN	173354500	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	1.486000	0.35530	2.473000	0.83533	0.313000	0.20887	AGG		0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		C	175087877	G	C	175087877	3	2	438	1	0	0	0	0	1	0	0	0	16323	1000	35	3	2605	3	TNN	1	175087877	Missense_Mutation	SNP	G	TCGA-61-1911-01A-01W-0639-09	29589750	175087877	74162744	7	24276											
SLC9A2	6549	genome.wustl.edu	37	2	103281630	103281630	+	Silent	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr2:103281630C>T	ENST00000233969.2	+	3	967	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	275					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGCAGGAATCGCCAACTTCT	0.433																																																0			2											210	193	198					2																	103281630		2203	4300	6503	102648062	SO:0001819	synonymous_variant	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.825C>T	2.37:g.103281630C>T			102648062	B2RMS2	Silent	SNP	ENST00000233969.2	37	CCDS2062.1																																																																																				0.433	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			T	103281630	C	T	103281630	2	4	438	1	0	0	0	0	0	0	0	1	14715	874	31	1		1	SLC9A2	2	103281630	Silent	SNP	C	TCGA-61-1911-01A-01W-0639-09		103281630	139917743	8	24277											
ADAMTS9	56999	genome.wustl.edu	37	3	64582542	64582542	+	Silent	SNP	G	G	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr3:64582542G>A	ENST00000498707.1	-	27	4485	c.4143C>T	c.(4141-4143)ggC>ggT	p.G1381G	ADAMTS9_ENST00000295903.4_Silent_p.G1353G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1381					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAGGACAAGGGCCGGATTCAC	0.458																																																0			3											101	89	93					3																	64582542		2203	4300	6503	64557582	SO:0001819	synonymous_variant	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4143C>T	3.37:g.64582542G>A			64557582	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	9.888	1.203446	0.22121	.	.	ENSG00000163638	ENST00000481060	.	.	.	5.4	1.52	0.23074	.	.	.	.	.	T	0.53786	0.1818	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41124	-0.9526	4	.	.	.	.	6.4616	0.21960	0.1309:0.0:0.3921:0.477	.	.	.	.	V	437	.	.	A	-	2	0	ADAMTS9	64557582	0.999000	0.42202	0.996000	0.52242	0.996000	0.88848	0.405000	0.21015	0.095000	0.17434	0.591000	0.81541	GCC		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			A	64582542	G	A	64582542	2	1	438	1	0	0	0	0	0	0	0	1	273	1190	42	2		2	ADAMTS9	3	64582542	Silent	SNP	G	TCGA-61-1911-01A-01W-0639-09		64582542	133439888	9	24278											
MITF	4286	genome.wustl.edu	37	3	69928327	69928327	+	Silent	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr3:69928327C>T	ENST00000448226.2	+	2	274	c.147C>T	c.(145-147)agC>agT	p.S49S	MITF_ENST00000314589.5_Silent_p.S33S|MITF_ENST00000328528.6_Silent_p.S48S|MITF_ENST00000472437.1_5'UTR|MITF_ENST00000394355.2_Silent_p.S24S|MITF_ENST00000352241.4_Silent_p.S49S			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	49					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTCCGATAAGCTCCTCCAGTA	0.552			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0			3											45	50	48					3																	69928327		2044	4220	6264	70011017	SO:0001819	synonymous_variant	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.147C>T	3.37:g.69928327C>T			70011017	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37																																																																																					0.552	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		T	69928327	C	T	69928327	2	4	438	1	0	0	0	0	0	0	0	1	9596	796	28	2		2	MITF	3	69928327	Silent	SNP	C	TCGA-61-1911-01A-01W-0639-09	5345785	69928327	128094103	10	24279											
KDR	3791	genome.wustl.edu	37	4	55984786	55984786	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr4:55984786A>C	ENST00000263923.4	-	3	638	c.343T>G	c.(343-345)Tat>Gat	p.Y115D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	115					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACATAGACATAAATGACCGAG	0.403			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											94	86	89					4																	55984786		2203	4300	6503	55679543	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.343T>G	4.37:g.55984786A>C	ENSP00000263923:p.Tyr115Asp		55679543	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334326	0.60853	.	.	ENSG00000128052	ENST00000263923	T	0.39787	1.06	5.48	5.48	0.80851	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	M	0.85462	2.755	0.54753	D	0.99998	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.974	T	0.70799	-0.4774	10	0.87932	D	0	.	9.9894	0.41860	0.9244:0.0:0.0756:0.0	.	115;115	P35968-2;P35968	.;VGFR2_HUMAN	D	115	ENSP00000263923:Y115D	ENSP00000263923:Y115D	Y	-	1	0	KDR	55679543	1.000000	0.71417	0.891000	0.34965	0.725000	0.41563	6.090000	0.71397	2.091000	0.63221	0.533000	0.62120	TAT		0.403	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			C	55984786	A	C	55984786	3	2	438	1	0	0	0	0	1	0	0	0	8139	362	13	5	3839	5	KDR	4	55984786	Missense_Mutation	SNP	A	TCGA-61-1911-01A-01W-0639-09		55984786	135169490	11	24280											
SHROOM3	57619	genome.wustl.edu	37	4	77680734	77680734	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr4:77680734C>A	ENST00000296043.6	+	9	6188	c.5235C>A	c.(5233-5235)aaC>aaA	p.N1745K	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1745	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGTTGGTTAACTGCCCTGCCT	0.488																																																0			4											169	148	155					4																	77680734		2203	4300	6503	77899758	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5235C>A	4.37:g.77680734C>A	ENSP00000296043:p.Asn1745Lys		77899758	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103801|3.103801	0.56291|0.56291	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000264907|ENST00000296043	.|T	.|0.28666	.|1.6	5.43|5.43	4.57|4.57	0.56435|0.56435	.|Apx/shroom, ASD2 (2);	.|0.625728	.|0.16712	.|N	.|0.202607	.|T	.|0.29458	.|0.0734	L|L	0.42245|0.42245	1.32|1.32	0.38138|0.38138	D|D	0.938359|0.938359	.|P	.|0.43231	.|0.801	.|B	.|0.41374	.|0.355	.|T	.|0.17806	.|-1.0357	.|10	.|0.62326	.|D	.|0.03	.|-9.8436	12.948|12.948	0.58384|0.58384	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|1745	.|Q8TF72	.|SHRM3_HUMAN	.|K	-1|1745	.|ENSP00000296043:N1745K	.|ENSP00000296043:N1745K	.|N	+|+	.|3	.|2	SHROOM3|SHROOM3	77899758|77899758	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.599000|0.599000	0.36880|0.36880	4.797000|4.797000	0.62503|0.62503	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	.|AAC		0.488	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77680734	C	A	77680734	3	1	438	1	0	0	0	0	1	0	0	0	14298	564	20	3	5269	3	SHROOM3	4	77680734	Missense_Mutation	SNP	C	TCGA-61-1911-01A-01W-0639-09	21695948	77680734	113473542	12	24281											
C6orf167	253714	genome.wustl.edu	37	6	97677218	97677218	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr6:97677218A>C	ENST00000275053.4	-	14	1856	c.1591T>G	c.(1591-1593)Ttt>Gtt	p.F531V	MMS22L_ENST00000369251.2_Missense_Mutation_p.F491V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	531					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGCTAAAAAAGTTCTGTAGA	0.323																																																0			6											30	29	30					6																	97677218		2203	4300	6503	97783939	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1591T>G	6.37:g.97677218A>C	ENSP00000275053:p.Phe531Val		97783939	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326298	0.81580	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.30714	1.52;1.52	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	M	0.75264	2.295	0.58432	D	0.999999	P;P	0.47350	0.787;0.894	B;P	0.46585	0.23;0.521	T	0.29671	-1.0004	10	0.72032	D	0.01	-5.97	15.6238	0.76833	1.0:0.0:0.0:0.0	.	491;531	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	V	531;491	ENSP00000275053:F531V;ENSP00000358254:F491V	ENSP00000275053:F531V	F	-	1	0	MMS22L	97783939	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.957000	0.87870	2.100000	0.63781	0.533000	0.62120	TTT		0.323	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		C	97677218	A	C	97677218	3	2	438	1	0	0	0	0	1	0	0	0	2342	72	3	5	2188	5	C6orf167	6	97677218	Missense_Mutation	SNP	A	TCGA-61-1911-01A-01W-0639-09		97677218	73437849	13	24282											
MRPL18	29074	genome.wustl.edu	37	6	160212129	160212129	+	Silent	SNP	G	G	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr6:160212129G>C	ENST00000367034.4	+	2	332	c.210G>C	c.(208-210)acG>acC	p.T70T	MRPL18_ENST00000480842.1_3'UTR|TCP1_ENST00000544255.1_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000420894.2_5'Flank|TCP1_ENST00000392168.2_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	70					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GCTGGCGGACGGTGTTTCCCT	0.522																																																0			6											30	37	35					6																	160212129		2203	4300	6503	160132119	SO:0001819	synonymous_variant	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"Mitochondrial ribosomal proteins / large subunits"	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.210G>C	6.37:g.160212129G>C			160132119	Q5TAP9|Q9NZW8	Silent	SNP	ENST00000367034.4	37	CCDS5270.1																																																																																				0.522	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1			C	160212129	G	C	160212129	2	2	438	1	0	0	0	0	0	0	0	1	9783	1103	39	3		3	MRPL18	6	160212129	Silent	SNP	G	TCGA-61-1911-01A-01W-0639-09	62534911	160212129	10902938	14	24283											
AP4M1	9179	genome.wustl.edu	37	7	99702680	99702680	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr7:99702680G>C	ENST00000359593.4	+	9	844	c.686G>C	c.(685-687)gGc>gCc	p.G229A	AP4M1_ENST00000421755.1_Missense_Mutation_p.G229A|AP4M1_ENST00000422582.1_Missense_Mutation_p.G101A|AP4M1_ENST00000429084.1_Missense_Mutation_p.G236A	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	229	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGCGCATTGGCTTGACGGAA	0.537																																					Pancreas(174;1182 2812 29595 49511)											0			7											124	119	121					7																	99702680		2203	4300	6503	99540616	SO:0001583	missense	9179			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.686G>C	7.37:g.99702680G>C	ENSP00000352603:p.Gly229Ala		99540616	D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707043	0.68615	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	4.77	4.77	0.60923	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	L	0.42529	1.33	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;P;D;D	0.87578	0.998;0.788;0.998;0.993	T	0.16778	-1.0391	10	0.87932	D	0	-25.0416	15.3565	0.74431	0.0:0.0:1.0:0.0	.	185;181;236;229	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	A	161;236;229;185;229;101	ENSP00000401613:G161A;ENSP00000403663:G236A;ENSP00000352603:G229A;ENSP00000414286:G185A;ENSP00000412185:G229A;ENSP00000406676:G101A	ENSP00000352603:G229A	G	+	2	0	AP4M1	99540616	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.709000	0.68384	2.479000	0.83701	0.561000	0.74099	GGC		0.537	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		C	99702680	G	C	99702680	3	2	438	1	0	0	0	0	1	0	0	0	753	1203	42	3	720	3	AP4M1	7	99702680	Missense_Mutation	SNP	G	TCGA-61-1911-01A-01W-0639-09		99702680	59435983	15	24284											
CSMD1	64478	genome.wustl.edu	37	8	3081251	3081251	+	Splice_Site	SNP	C	C	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr8:3081251C>A	ENST00000520002.1	-	29	5042	c.4487G>T	c.(4486-4488)aGt>aTt	p.S1496I	CSMD1_ENST00000537824.1_Splice_Site_p.S1495I|CSMD1_ENST00000539096.1_Splice_Site_p.S1495I|CSMD1_ENST00000602723.1_Splice_Site_p.S1496I|CSMD1_ENST00000400186.3_Splice_Site_p.S1496I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Splice_Site_p.S1495I|CSMD1_ENST00000602557.1_Splice_Site_p.S1496I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1496	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				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)		GAGACGGTACCTTTTGAATAT	0.388																																																0			8											100	99	99					8																	3081251		1835	4076	5911	3068658	SO:0001630	splice_region_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.4487+1G>T	8.37:g.3081251C>A			3068658	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.24|11.24	1.581768|1.581768	0.28180|0.28180	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T|T;T;T;T;T	0.18338|0.19532	2.22|2.14;2.14;2.14;2.14;2.14	5.17|5.17	5.17|5.17	0.71159|0.71159	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43743|0.43743	0.1261|0.1261	L|L	0.54965|0.54965	1.715|1.715	0.58432|0.58432	D|D	0.999999|0.999999	.|D;B;P	.|0.76494	.|0.999;0.097;0.656	.|D;B;P	.|0.85130	.|0.997;0.058;0.465	T|T	0.11743|0.11743	-1.0575|-1.0575	6|9	.|.	.|.	.|.	.|.	19.0155|19.0155	0.92892|0.92892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1496;1496;1496	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	N|I	975|1496;1496;1358;1495;1495;1495	ENSP00000334828:K975N|ENSP00000383047:S1496I;ENSP00000430733:S1496I;ENSP00000441462:S1495I;ENSP00000446243:S1495I;ENSP00000441675:S1495I	.|.	K|S	-|-	3|2	2|0	CSMD1|CSMD1	3068658|3068658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	3.782000|3.782000	0.55401|0.55401	2.554000|2.554000	0.86153|0.86153	0.650000|0.650000	0.86243|0.86243	AAG|AGT		0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Missense_Mutation	A	3081251	C	A	3081251	5	1	438	1	0	0	0	0	0	0	1	0	3944	695	24	3	6382	3	CSMD1	8	3081251	Splice_Site	SNP	C	TCGA-61-1911-01A-01W-0639-09		3081251	143282771	16	24285											
MTSS1	9788	genome.wustl.edu	37	8	125565383	125565383	+	Silent	SNP	A	A	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr8:125565383A>C	ENST00000518547.1	-	14	2591	c.2118T>G	c.(2116-2118)acT>acG	p.T706T	MTSS1_ENST00000354184.4_Silent_p.T424T|MTSS1_ENST00000378017.3_Silent_p.T681T|MTSS1_ENST00000431961.2_Silent_p.T424T|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Silent_p.T480T|MTSS1_ENST00000524090.1_Silent_p.T596T|MTSS1_ENST00000325064.5_Silent_p.T710T|NDUFB9_ENST00000522532.1_Intron	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	706	Pro-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGGGGAGACAGTGGCACTTG	0.582																																					Esophageal Squamous(160;622 1893 3862 8546 12509)											0			8											246	240	242					8																	125565383		2203	4300	6503	125634564	SO:0001819	synonymous_variant	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.2118T>G	8.37:g.125565383A>C			125634564	J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	A	3.164	-0.171444	0.06421	.	.	ENSG00000170873	ENST00000519168	.	.	.	6.17	-11.9	0.00025	.	.	.	.	.	T	0.16385	0.0394	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.09443	-1.0674	4	.	.	.	-3.669	5.8826	0.18864	0.2417:0.3773:0.3095:0.0716	.	.	.	.	G	494	.	.	C	-	1	0	MTSS1	125634564	0.000000	0.05858	0.009000	0.14445	0.672000	0.39443	-1.774000	0.01784	-1.801000	0.01245	-0.250000	0.11733	TGT		0.582	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		C	125565383	A	C	125565383	2	2	438	1	0	0	0	0	0	0	0	1	9962	175	7	5		5	MTSS1	8	125565383	Silent	SNP	A	TCGA-61-1911-01A-01W-0639-09	122484132	125565383	20798639	17	24286											
MTPAP	55149	genome.wustl.edu	37	10	30625880	30625880	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr10:30625880C>T	ENST00000263063.4	-	4	675	c.632G>A	c.(631-633)tGt>tAt	p.C211Y	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.C341Y	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	211					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AATAAGAGAACAGGTGAGATA	0.463																																																0			10											157	151	153					10																	30625880		2203	4300	6503	30665886	SO:0001583	missense	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.632G>A	10.37:g.30625880C>T	ENSP00000263063:p.Cys211Tyr		30665886	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707041	0.68615	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581	T;T;T	0.07800	3.16;3.16;3.16	5.64	4.72	0.59763	.	0.096911	0.64402	D	0.000001	T	0.26195	0.0639	M	0.80183	2.485	0.58432	D	0.999993	D;P	0.76494	0.999;0.939	D;P	0.70227	0.968;0.781	T	0.27872	-1.0061	10	0.08837	T	0.75	-11.9468	14.82	0.70065	0.0:0.7265:0.2735:0.0	.	341;211	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	Y	341;211;146	ENSP00000350820:C341Y;ENSP00000263063:C211Y;ENSP00000404392:C146Y	ENSP00000263063:C211Y	C	-	2	0	MTPAP	30665886	1.000000	0.71417	0.978000	0.43139	0.756000	0.42949	4.457000	0.60088	1.349000	0.45751	0.650000	0.86243	TGT		0.463	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		T	30625880	C	T	30625880	3	4	438	1	0	0	0	0	1	0	0	0	9956	478	17	2	1140	2	MTPAP	10	30625880	Missense_Mutation	SNP	C	TCGA-61-1911-01A-01W-0639-09		30625880	104908867	18	24287											
ZNF25	219749	genome.wustl.edu	37	10	38246347	38246347	+	Splice_Site	SNP	C	C	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr10:38246347C>A	ENST00000302609.7	-	3	355		c.e3+1		AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_Splice_Site	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GTTTTCCTCACCCACTGAGAC	0.423																																																1	Unknown(1)	lung(1)	10											128	116	120					10																	38246347		2203	4300	6503	38286353	SO:0001630	splice_region_variant	219749			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"Zinc fingers, C2H2-type", "-"	13043	protein-coding gene	gene with protein product		194528	"zinc finger protein 25 (KOX 19)"			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.142+1G>T	10.37:g.38246347C>A			38286353	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Splice_Site	SNP	ENST00000302609.7	37	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349098	0.41599	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.575	0.56359	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF25	38286353	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.524000	0.60552	2.424000	0.82194	0.561000	0.74099	.		0.423	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966	Intron	A	38246347	C	A	38246347	5	1	438	1	0	0	0	0	0	0	1	0	17794	521	18	3	1243	3	ZNF25	10	38246347	Splice_Site	SNP	C	TCGA-61-1911-01A-01W-0639-09	7620467	38246347	97288400	19	24288											
OR51B4	79339	genome.wustl.edu	37	11	5322941	5322941	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr11:5322941A>C	ENST00000380224.1	-	1	285	c.236T>G	c.(235-237)gTc>gGc	p.V79G	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	79					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACACCCAGGACTGTGGGCAT	0.507																																																0			11											129	120	123					11																	5322941		2201	4297	6498	5279517	SO:0001583	missense	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.236T>G	11.37:g.5322941A>C	ENSP00000369573:p.Val79Gly		5279517	A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	A	9.452	1.090863	0.20471	.	.	ENSG00000183251	ENST00000380224	T	0.03212	4.01	4.39	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000302	T	0.17023	0.0409	M	0.91406	3.205	0.18873	N	0.999982	D	0.69078	0.997	D	0.63793	0.918	T	0.09015	-1.0694	10	0.72032	D	0.01	.	5.6734	0.17735	0.7343:0.1744:0.0912:0.0	.	79	Q9Y5P0	O51B4_HUMAN	G	79	ENSP00000369573:V79G	ENSP00000369573:V79G	V	-	2	0	OR51B4	5279517	0.002000	0.14202	0.056000	0.19401	0.008000	0.06430	1.928000	0.40104	0.720000	0.32209	0.533000	0.62120	GTC		0.507	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		C	5322941	A	C	5322941	3	2	438	1	0	0	0	0	1	0	0	0	11090	275	10	5	699	5	OR51B4	11	5322941	Missense_Mutation	SNP	A	TCGA-61-1911-01A-01W-0639-09		5322941	129683575	20	24289											
BDKRB2	624	genome.wustl.edu	37	14	96707366	96707366	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr14:96707366T>A	ENST00000306005.3	+	3	897	c.701T>A	c.(700-702)cTg>cAg	p.L234Q	BDKRB2_ENST00000539359.1_Missense_Mutation_p.L207Q|BDKRB2_ENST00000542454.2_Missense_Mutation_p.L207Q|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.L234Q	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	234					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GTGGGCTTCCTGCTGCCCCTG	0.547																																																0			14											122	93	103					14																	96707366		2203	4300	6503	95777119	SO:0001583	missense	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.701T>A	14.37:g.96707366T>A	ENSP00000307713:p.Leu234Gln		95777119		Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975101	0.74360	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.320365	0.29178	N	0.012910	D	0.88213	0.6376	M	0.91406	3.205	0.46954	D	0.999262	D	0.61697	0.99	D	0.69479	0.964	D	0.90929	0.4789	10	0.87932	D	0	-12.8579	14.4643	0.67472	0.0:0.0:0.0:1.0	.	234	P30411	BKRB2_HUMAN	Q	207;234;234;207	ENSP00000439459:L207Q;ENSP00000450482:L234Q;ENSP00000307713:L234Q;ENSP00000438376:L207Q	ENSP00000307713:L234Q	L	+	2	0	BDKRB2	95777119	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.946000	0.87746	1.828000	0.53243	0.459000	0.35465	CTG		0.547	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			A	96707366	T	A	96707366	3	1	438	1	0	0	0	0	1	0	0	0	1393	1580	55	5	707	5	BDKRB2	14	96707366	Missense_Mutation	SNP	T	TCGA-61-1911-01A-01W-0639-09		96707366	10642174	21	24290											
GLYR1	84656	genome.wustl.edu	37	16	4882111	4882111	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr16:4882111C>A	ENST00000321919.9	-	5	482	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	GLYR1_ENST00000381983.3_Missense_Mutation_p.V136L|GLYR1_ENST00000591451.1_Missense_Mutation_p.V136L|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000586901.1_5'UTR	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	136					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTCTTCTTCACCTTCCCTTCA	0.488																																																0			16											189	170	177					16																	4882111		2197	4300	6497	4822112	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.406G>T	16.37:g.4882111C>A	ENSP00000322716:p.Val136Leu		4822112	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623943	0.46840	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.63913	-0.07;-0.05	5.29	5.29	0.74685	.	0.421594	0.22830	N	0.055115	T	0.47340	0.1440	N	0.14661	0.345	0.34728	D	0.729404	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50499	-0.8821	10	0.26408	T	0.33	-14.9662	18.0706	0.89405	0.0:1.0:0.0:0.0	.	136;136;136	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	L	136	ENSP00000322716:V136L;ENSP00000371413:V136L	ENSP00000322716:V136L	V	-	1	0	GLYR1	4822112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.846000	0.39289	2.634000	0.89283	0.650000	0.86243	GTG		0.488	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		A	4882111	C	A	4882111	3	1	438	1	0	0	0	0	1	0	0	0	6483	507	18	3	1303	3	GLYR1	16	4882111	Missense_Mutation	SNP	C	TCGA-61-1911-01A-01W-0639-09		4882111	85472642	22	24291											
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	438	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-61-1911-01A-01W-0639-09		7578265	73616945	23	24292											
ADAMTS10	81794	genome.wustl.edu	37	19	8668756	8668756	+	Missense_Mutation	SNP	C	C	T	rs146637359		TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:8668756C>T	ENST00000597188.1	-	5	718	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V150M|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	150						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCGTCTGCCACGATCAGGCCG	0.552																																																0			19						C	MET/VAL	0,4406		0,0,2203	74	68	70		448	5.7	1	19	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS10	NM_030957.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	150/1104	8668756	1,13005	2203	4300	6503	8574756	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.448G>A	19.37:g.8668756C>T	ENSP00000471851:p.Val150Met		8574756	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455735	0.84209	0.0	1.16E-4	ENSG00000142303	ENST00000270328	T	0.06218	3.33	5.72	5.72	0.89469	Peptidase M12B, propeptide (1);	0.157695	0.41097	D	0.000949	T	0.21631	0.0521	L	0.49455	1.56	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.00028	-1.2297	10	0.59425	D	0.04	.	18.8667	0.92294	0.0:1.0:0.0:0.0	.	150	Q9H324	ATS10_HUMAN	M	150	ENSP00000270328:V150M	ENSP00000270328:V150M	V	-	1	0	ADAMTS10	8574756	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.235000	0.78143	2.705000	0.92388	0.585000	0.79938	GTG		0.552	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		T	8668756	C	T	8668756	3	4	438	1	0	0	0	0	1	0	0	0	256	536	19	1	2951	1	ADAMTS10	19	8668756	Missense_Mutation	SNP	C	TCGA-61-1911-01A-01W-0639-09		8668756	50460227	24	24293											
CYP4F12	66002	genome.wustl.edu	37	19	15794393	15794393	+	Silent	SNP	G	G	A			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:15794393G>A	ENST00000550308.1	+	7	1118	c.738G>A	c.(736-738)ctG>ctA	p.L246L	CYP4F12_ENST00000324632.10_Silent_p.L246L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	246					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGGACTTTCTGTATTACCTCT	0.582																																																0			19											77	78	77					19																	15794393		2200	4297	6497	15655393	SO:0001819	synonymous_variant	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.738G>A	19.37:g.15794393G>A			15655393	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																				0.582	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			A	15794393	G	A	15794393	2	1	438	1	0	0	0	0	0	0	0	1	4187	1364	48	2		2	CYP4F12	19	15794393	Silent	SNP	G	TCGA-61-1911-01A-01W-0639-09	7125637	15794393	43334590	25	24294											
ZNF229	7772	genome.wustl.edu	37	19	44934186	44934186	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:44934186C>T	ENST00000588931.1	-	6	1203	c.770G>A	c.(769-771)cGc>cAc	p.R257H	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.R251H|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	257					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)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGGGTTAATGCGATGAAGTAC	0.428																																																0			19											111	103	105					19																	44934186		1904	4114	6018	49626026	SO:0001583	missense	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.770G>A	19.37:g.44934186C>T	ENSP00000466519:p.Arg257His		49626026	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	T	8.311	0.822113	0.16678	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	-2.7	0.06004	.	.	.	.	.	T	0.24044	0.0582	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15838	-1.0423	8	0.56958	D	0.05	.	4.7674	0.13139	0.1294:0.5273:0.1313:0.212	.	257	Q9UJW7	ZN229_HUMAN	H	257	.	ENSP00000291187:R257H	R	-	2	0	ZNF229	49626026	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.878000	0.28126	-0.979000	0.03529	-0.308000	0.09152	CGC		0.428	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		T	44934186	C	T	44934186	3	4	438	1	0	0	0	0	1	0	0	0	17782	768	27	1	1711	1	ZNF229	19	44934186	Missense_Mutation	SNP	C	TCGA-61-1911-01A-01W-0639-09	29139793	44934186	14194797	26	24295											
PNKP	11284	genome.wustl.edu	37	19	50367329	50367329	+	Splice_Site	SNP	C	C	G			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:50367329C>G	ENST00000322344.3	-	7	746		c.e7-1		PNKP_ENST00000595792.1_5'Flank|PNKP_ENST00000600910.1_Splice_Site|PNKP_ENST00000596014.1_Splice_Site|PNKP_ENST00000600573.1_Splice_Site	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase						dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		AGATCACCAGCTGGGGAGCAA	0.652								Other BER factors																																								0			19											38	35	36					19																	50367329		2203	4300	6503	55059141	SO:0001630	splice_region_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.637-1G>C	19.37:g.50367329C>G			55059141	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Splice_Site	SNP	ENST00000322344.3	37	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320593	0.81469	.	.	ENSG00000039650	ENST00000322344	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3043	0.73979	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNKP	55059141	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.814000	0.62627	2.679000	0.91253	0.655000	0.94253	.		0.652	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	Intron	G	50367329	C	G	50367329	5	3	438	1	0	0	0	0	0	0	1	0	12147	811	28	3	973	3	PNKP	19	50367329	Splice_Site	SNP	C	TCGA-61-1911-01A-01W-0639-09	5433143	50367329	8761654	27	24296											
NLRP11	204801	genome.wustl.edu	37	19	56320356	56320356	+	Silent	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:56320356C>T	ENST00000589093.1	-	3	1713	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	NLRP11_ENST00000592953.1_Silent_p.T441T|NLRP11_ENST00000589824.2_Silent_p.T540T|NLRP11_ENST00000360133.3_Silent_p.T540T|NLRP11_ENST00000443188.1_Silent_p.T540T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCATATGGTGCGTCAACTTTT	0.443																																																0			19											163	151	155					19																	56320356		2203	4300	6503	61012168	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1620G>A	19.37:g.56320356C>T			61012168	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																				0.443	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		T	56320356	C	T	56320356	2	4	438	1	0	0	0	0	0	0	0	1	10473	755	27	1		1	NLRP11	19	56320356	Silent	SNP	C	TCGA-61-1911-01A-01W-0639-09	5953027	56320356	2808627	28	24297											
PEG3	5178	genome.wustl.edu	37	19	57326652	57326652	+	Missense_Mutation	SNP	T	T	G	rs78283258	byFrequency	TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr19:57326652T>G	ENST00000326441.9	-	10	3521	c.3158A>C	c.(3157-3159)tAt>tCt	p.Y1053S	PEG3_ENST00000598410.1_Missense_Mutation_p.Y929S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Y927S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Y1053S|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1053					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y1053F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCTTGGTCATAGATTTTCTG	0.488																																																2	Substitution - Missense(2)	large_intestine(2)	19											137	124	128					19																	57326652		2203	4300	6503	62018464	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3158A>C	19.37:g.57326652T>G	ENSP00000326581:p.Tyr1053Ser		62018464	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	9.772	1.172986	0.21704	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02421	4.3;4.3	4.01	0.754	0.18410	.	0.319514	0.23043	N	0.052598	T	0.08537	0.0212	M	0.69823	2.125	.	.	.	B;D;D	0.65815	0.012;0.979;0.995	B;P;P	0.61477	0.007;0.681;0.889	T	0.08351	-1.0726	9	0.87932	D	0	.	4.9739	0.14131	0.0:0.1582:0.1627:0.6791	.	929;1053;988	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1053	ENSP00000326581:Y1053S;ENSP00000403051:Y1053S	ENSP00000326581:Y1053S	Y	-	2	0	ZIM2	62018464	0.984000	0.35163	0.001000	0.08648	0.004000	0.04260	4.487000	0.60293	0.054000	0.16065	-0.313000	0.08912	TAT		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57326652	T	G	57326652	3	3	438	1	0	0	0	0	1	0	0	0	11720	1406	49	5	1612	5	PEG3	19	57326652	Missense_Mutation	SNP	T	TCGA-61-1911-01A-01W-0639-09	1006296	57326652	1802331	29	24298											
CASS4	57091	genome.wustl.edu	37	20	55033506	55033506	+	Silent	SNP	C	C	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr20:55033506C>T	ENST00000360314.3	+	7	2289	c.2064C>T	c.(2062-2064)agC>agT	p.S688S	CASS4_ENST00000371336.3_Silent_p.S688S|CASS4_ENST00000434344.1_Silent_p.S251S|AL121914.1_ENST00000390795.2_RNA	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	688					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAGCCATCAGCGCATTTCACG	0.567																																																0			20											64	62	63					20																	55033506		2203	4300	6503	54466913	SO:0001819	synonymous_variant	57091			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2064C>T	20.37:g.55033506C>T			54466913	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	CCDS33492.1																																																																																				0.567	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		T	55033506	C	T	55033506	2	4	438	1	0	0	0	0	0	0	0	1	2683	767	27	1		1	CASS4	20	55033506	Silent	SNP	C	TCGA-61-1911-01A-01W-0639-09		55033506	7992014	30	24299											
GTPBP1	9567	genome.wustl.edu	37	22	39112796	39112796	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1911-01A-01W-0639-09	TCGA-61-1911-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	12ba9b9d-41e5-4880-86f6-dbf4e124aeff	ed003685-1f6c-47a7-9bd9-535faefc0a94	g.chr22:39112796A>T	ENST00000216044.5	+	4	858	c.625A>T	c.(625-627)Agc>Tgc	p.S209C		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	209	G2. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGGTCGCACCAGCAGTGTGGG	0.562																																																0			22											115	101	106					22																	39112796		2203	4300	6503	37442742	SO:0001583	missense	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.625A>T	22.37:g.39112796A>T	ENSP00000216044:p.Ser209Cys		37442742	Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222698	0.79464	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70986	-0.53;-0.53	4.92	4.92	0.64577	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93028	0.6446	10	0.87932	D	0	.	14.5442	0.68017	1.0:0.0:0.0:0.0	.	209	O00178	GTPB1_HUMAN	C	209;128	ENSP00000216044:S209C;ENSP00000442881:S128C	ENSP00000216044:S209C	S	+	1	0	GTPBP1	37442742	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.852000	0.69488	1.825000	0.53177	0.368000	0.22195	AGC		0.562	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		T	39112796	A	T	39112796	3	4	438	1	0	0	0	0	1	0	0	0	6878	188	7	5	639	5	GTPBP1	22	39112796	Missense_Mutation	SNP	A	TCGA-61-1911-01A-01W-0639-09		39112796	12191770	31	24300											
SPEN	23013	genome.wustl.edu	37	1	16262483	16262483	+	Missense_Mutation	SNP	G	G	T	rs369155141		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:16262483G>T	ENST00000375759.3	+	11	9952	c.9748G>T	c.(9748-9750)Gtc>Ttc	p.V3250F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3250	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ccctgcccccgtccctgtccc	0.662																																																0			1											15	16	16					1																	16262483		2200	4295	6495	16135070	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9748G>T	1.37:g.16262483G>T	ENSP00000364912:p.Val3250Phe		16135070	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.013026	0.00422	.	.	ENSG00000065526	ENST00000375759	T	0.08634	3.07	0.225	0.225	0.15325	.	.	.	.	.	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	P	0.36944	0.574	B	0.37144	0.242	T	0.40232	-0.9574	8	0.56958	D	0.05	.	.	.	.	.	3250	Q96T58	MINT_HUMAN	F	3250	ENSP00000364912:V3250F	ENSP00000364912:V3250F	V	+	1	0	SPEN	16135070	.	.	0.004000	0.12327	0.007000	0.05969	.	.	0.300000	0.22699	0.305000	0.20034	GTC		0.662	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16262483	G	T	16262483	3	4	439	1	0	0	0	0	1	0	0	0	15040	1145	40	3	9790	3	SPEN	1	16262483	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09		16262483	232988138	1	24301											
PODN	127435	genome.wustl.edu	37	1	53540317	53540317	+	Missense_Mutation	SNP	A	A	G	rs367579309	byFrequency	TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:53540317A>G	ENST00000312553.5	+	4	597	c.590A>G	c.(589-591)aAt>aGt	p.N197S	PODN_ENST00000395871.2_Intron|PODN_ENST00000371500.3_Missense_Mutation_p.N178S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	149					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAACCTCAATTACCTGTAC	0.562													A|||	2	0.000399361	0.0015	0	5008	,	,		15935	0		0	False		,,,				2504	0															0			1						A	,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	161	159	160		,590,533,533	5.5	1	1		160	0,8600		0,0,4300	no	intron,missense,missense,missense	PODN	NM_001199082.1,NM_153703.4,NM_001199081.1,NM_001199080.1	,46,46,46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,benign,benign,benign	,197/662,178/643,178/643	53540317	1,13005	2203	4300	6503	53312905	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.590A>G	1.37:g.53540317A>G	ENSP00000308315:p.Asn197Ser		53312905	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301555	0.40694	2.27E-4	0.0	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.55760	0.5;0.5	5.51	5.51	0.81932	.	0.151959	0.64402	D	0.000019	T	0.28863	0.0716	N	0.03608	-0.345	0.80722	D	1	B;B	0.29136	0.234;0.041	B;B	0.25506	0.061;0.032	T	0.19582	-1.0301	10	0.14656	T	0.56	.	15.6342	0.76937	1.0:0.0:0.0:0.0	.	178;197	Q7Z5L7-2;Q7Z5L7-3	.;.	S	178;197	ENSP00000360555:N178S;ENSP00000308315:N197S	ENSP00000308315:N197S	N	+	2	0	PODN	53312905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.555000	0.60767	2.077000	0.62373	0.533000	0.62120	AAT		0.562	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		G	53540317	A	G	53540317	3	3	439	1	0	0	0	0	1	0	0	0	12178	101	4	4	604	4	PODN	1	53540317	Missense_Mutation	SNP	A	TCGA-61-1913-01A-01W-0639-09	37277834	53540317	195710304	2	24302											
DDAH1	23576	genome.wustl.edu	37	1	85787166	85787166	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:85787166G>A	ENST00000284031.8	-	6	921	c.827C>T	c.(826-828)tCa>tTa	p.S276L	DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.S276L|DDAH1_ENST00000542148.1_Missense_Mutation_p.S176L|DDAH1_ENST00000426972.3_Missense_Mutation_p.S183L|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.S173L	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	276					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	AATTAAAACTGAGCAGCAGGT	0.532																																																0			1											82	77	78					1																	85787166		2203	4300	6503	85559754	SO:0001583	missense	23576			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.827C>T	1.37:g.85787166G>A	ENSP00000284031:p.Ser276Leu		85559754	Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	CCDS705.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485723	0.84854	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.72	5.72	0.89469	.	0.181950	0.48286	D	0.000185	D	0.86041	0.5838	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88039	0.2780	9	0.66056	D	0.02	-5.4071	20.2504	0.98404	0.0:0.0:1.0:0.0	.	176;276	B4DYP1;O94760	.;DDAH1_HUMAN	L	276;276;173;183;176	.	ENSP00000284031:S276L	S	-	2	0	DDAH1	85559754	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	6.034000	0.70933	2.850000	0.98022	0.650000	0.86243	TCA		0.532	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1			A	85787166	G	A	85787166	3	1	439	1	0	0	0	0	1	0	0	0	4321	1294	45	2	34	2	DDAH1	1	85787166	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	32246849	85787166	163463455	3	24303											
NRAS	4893	genome.wustl.edu	37	1	115258686	115258686	+	Nonsense_Mutation	SNP	A	A	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:115258686A>C	ENST00000369535.4	-	2	349	c.96T>G	c.(94-96)taT>taG	p.Y32*	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	32					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGTGGGATCATATTCATCTA	0.468		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	0			1											165	143	151					1																	115258686		2203	4300	6503	115060209	SO:0001587	stop_gained	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.96T>G	1.37:g.115258686A>C	ENSP00000358548:p.Tyr32*		115060209	Q14971|Q15104|Q15282	Nonsense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	A	37	6.384794	0.97524	.	.	ENSG00000213281	ENST00000369535	.	.	.	5.45	5.45	0.79879	.	0.000000	0.52532	U	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3744	0.32434	0.8824:0.0:0.1176:0.0	.	.	.	.	X	32	.	ENSP00000358548:Y32X	Y	-	3	2	NRAS	115060209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.562000	0.36353	2.289000	0.77006	0.460000	0.39030	TAT		0.468	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		C	115258686	A	C	115258686	4	2	439	1	0	0	0	0	0	1	0	0	10640	224	8	5	489	5	NRAS	1	115258686	Nonsense_Mutation	SNP	A	TCGA-61-1913-01A-01W-0639-09	29471520	115258686	133991935	4	24304											
ANKRD35	148741	genome.wustl.edu	37	1	145566771	145566771	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:145566771T>C	ENST00000355594.4	+	11	2960	c.2873T>C	c.(2872-2874)cTg>cCg	p.L958P		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	958										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGCAGCTGCAGGTATGT	0.498																																					Melanoma(9;127 754 22988 51047)											0			1											83	79	80					1																	145566771		2203	4300	6503	144278128	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2873T>C	1.37:g.145566771T>C	ENSP00000347802:p.Leu958Pro		144278128	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587483	0.66105	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.61627	0.09	4.68	4.68	0.58851	.	0.218569	0.23277	N	0.049949	T	0.65923	0.2738	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.71155	-0.4675	10	0.72032	D	0.01	-2.4151	10.5072	0.44841	0.0:0.0:0.0:1.0	.	958	Q8N283	ANR35_HUMAN	P	867;958	ENSP00000347802:L958P	ENSP00000347802:L958P	L	+	2	0	ANKRD35	144278128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.709000	0.54853	1.988000	0.58038	0.456000	0.33151	CTG		0.498	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		C	145566771	T	C	145566771	3	2	439	1	0	0	0	0	1	0	0	0	664	1580	55	4	2915	4	ANKRD35	1	145566771	Missense_Mutation	SNP	T	TCGA-61-1913-01A-01W-0639-09	30308085	145566771	103683850	5	24305											
FLG2	388698	genome.wustl.edu	37	1	152325790	152325790	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:152325790G>C	ENST00000388718.5	-	3	4544	c.4472C>G	c.(4471-4473)tCc>tGc	p.S1491C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1491					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTGTACTGGACCCTCTCTG	0.527																																																0			1											356	340	345					1																	152325790		2203	4300	6503	150592414	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4472C>G	1.37:g.152325790G>C	ENSP00000373370:p.Ser1491Cys		150592414	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	9.172	1.021328	0.19433	.	.	ENSG00000143520	ENST00000388718	T	0.08634	3.07	3.08	1.14	0.20703	.	.	.	.	.	T	0.07593	0.0191	M	0.69358	2.11	0.09310	N	1	D	0.69078	0.997	P	0.55545	0.778	T	0.16928	-1.0386	9	0.66056	D	0.02	-7.0E-4	4.8175	0.13374	0.2977:0.0:0.7023:0.0	.	1491	Q5D862	FILA2_HUMAN	C	1491	ENSP00000373370:S1491C	ENSP00000373370:S1491C	S	-	2	0	FLG2	150592414	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.215000	0.17562	0.664000	0.31047	0.297000	0.19635	TCC		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		C	152325790	G	C	152325790	3	2	439	1	0	0	0	0	1	0	0	0	5923	1174	41	3	2707	3	FLG2	1	152325790	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	6759019	152325790	96924831	6	24306											
CACNA1E	777	genome.wustl.edu	37	1	181453026	181453026	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:181453026C>G	ENST00000367573.2	+	1	146	c.146C>G	c.(145-147)aCt>aGt	p.T49S	CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T49S|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T49S|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T49S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	49					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGCGCGGACTATGGCTTTG	0.582																																																0			1											84	93	90					1																	181453026		1916	4109	6025	179719649	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.146C>G	1.37:g.181453026C>G	ENSP00000356545:p.Thr49Ser		179719649	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450765	0.84101	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000360108;ENST00000367573	D;D;D;D;D	0.97404	-4.37;-4.02;-4.05;-4.15;-4.04	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.98444	0.9482	M	0.81802	2.56	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.99301	1.0901	10	0.72032	D	0.01	.	18.5497	0.91058	0.0:1.0:0.0:0.0	.	49	Q15878-3	.	S	49	ENSP00000432038:T49S;ENSP00000356542:T49S;ENSP00000434814:T49S;ENSP00000353222:T49S;ENSP00000356545:T49S	ENSP00000353222:T49S	T	+	2	0	CACNA1E	179719649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.667000	0.90743	0.561000	0.74099	ACT		0.582	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		G	181453026	C	G	181453026	3	3	439	1	0	0	0	0	1	0	0	0	2542	565	20	3	148	3	CACNA1E	1	181453026	Missense_Mutation	SNP	C	TCGA-61-1913-01A-01W-0639-09	29127236	181453026	67797595	7	24307											
LGR6	59352	genome.wustl.edu	37	1	202287879	202287879	+	Silent	SNP	G	G	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:202287879G>T	ENST00000367278.3	+	18	2537	c.2448G>T	c.(2446-2448)ctG>ctT	p.L816L	LGR6_ENST00000255432.7_Silent_p.L764L|LGR6_ENST00000439764.2_Silent_p.L677L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	816					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGTGGTGCTGCCCCTGCCTG	0.667																																																0			1											103	93	96					1																	202287879		2203	4300	6503	200554502	SO:0001819	synonymous_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2448G>T	1.37:g.202287879G>T			200554502	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	CCDS30971.1																																																																																				0.667	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		T	202287879	G	T	202287879	2	4	439	1	0	0	0	0	0	0	0	1	8758	1306	46	3		3	LGR6	1	202287879	Silent	SNP	G	TCGA-61-1913-01A-01W-0639-09	20834853	202287879	46962742	8	24308											
MIA3	375056	genome.wustl.edu	37	1	222802072	222802072	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:222802072C>A	ENST00000344922.5	+	4	1535	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.L504I	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	504					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAGCAATAACCTCAACTCTAT	0.398																																																0			1											147	145	145					1																	222802072		1935	4123	6058	220868695	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1510C>A	1.37:g.222802072C>A	ENSP00000340900:p.Leu504Ile		220868695	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.81|10.81	1.454470|1.454470	0.26161|0.26161	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.42513|.	0.97;0.97|.	4.24|4.24	2.34|2.34	0.29019|0.29019	.|.	.|.	.|.	.|.	.|.	T|T	0.41994|0.41994	0.1183|0.1183	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	P;D|.	0.63046|.	0.904;0.992|.	B;P|.	0.51324|.	0.408;0.666|.	T|T	0.27938|0.27938	-1.0059|-1.0059	9|5	0.34782|.	T|.	0.22|.	.|.	7.5673|7.5673	0.27887|0.27887	0.0:0.7332:0.0:0.2668|0.0:0.7332:0.0:0.2668	.|.	504;504|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	I|H	504|86	ENSP00000340900:L504I;ENSP00000340587:L504I|.	ENSP00000325973:L504I|.	L|P	+|+	1|2	0|0	MIA3|MIA3	220868695|220868695	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.139000|0.139000	0.21198|0.21198	0.867000|0.867000	0.27968|0.27968	0.349000|0.349000	0.23975|0.23975	0.305000|0.305000	0.20034|0.20034	CTC|CCT		0.398	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		A	222802072	C	A	222802072	3	1	439	1	0	0	0	0	1	0	0	0	9565	681	24	3	1524	3	MIA3	1	222802072	Missense_Mutation	SNP	C	TCGA-61-1913-01A-01W-0639-09	20514193	222802072	26448549	9	24309											
NCOA1	8648	genome.wustl.edu	37	2	24933862	24933862	+	Silent	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr2:24933862G>A	ENST00000406961.1	+	14	3133	c.2481G>A	c.(2479-2481)ttG>ttA	p.L827L	NCOA1_ENST00000538539.1_Silent_p.L827L|NCOA1_ENST00000288599.5_Silent_p.L827L|NCOA1_ENST00000405141.1_Silent_p.L827L|NCOA1_ENST00000348332.3_Silent_p.L827L|NCOA1_ENST00000395856.3_Silent_p.L827L|NCOA1_ENST00000407230.1_Silent_p.L676L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	827	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCACAGTTGCCAGGCTTAT	0.483			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0			2											112	99	103					2																	24933862		2203	4300	6503	24787366	SO:0001819	synonymous_variant	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2481G>A	2.37:g.24933862G>A			24787366	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	CCDS1712.1																																																																																				0.483	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		A	24933862	G	A	24933862	2	1	439	1	0	0	0	0	0	0	0	1	10228	1310	46	2		2	NCOA1	2	24933862	Silent	SNP	G	TCGA-61-1913-01A-01W-0639-09		24933862	218265511	10	24310											
KRTCAP3	200634	genome.wustl.edu	37	2	27665751	27665751	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr2:27665751C>G	ENST00000543753.1	+	3	303	c.256C>G	c.(256-258)Ctt>Gtt	p.L86V	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.L86V|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.L68V	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	86						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					GTCCAGGAACCTTCTTCGCCC	0.602																																																0			2											41	46	45					2																	27665751		2203	4300	6503	27519255	SO:0001583	missense	200634			AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.256C>G	2.37:g.27665751C>G	ENSP00000442400:p.Leu86Val		27519255	B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409884	0.83340	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.51071	0.72;0.72;0.72	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.64404	1.975	0.51482	D	0.999927	D	0.89917	1.0	D	0.87578	0.998	T	0.68895	-0.5288	10	0.72032	D	0.01	-26.6732	17.5372	0.87835	0.0:1.0:0.0:0.0	.	86	Q53RY4	KCP3_HUMAN	V	86;86;68	ENSP00000442400:L86V;ENSP00000288873:L86V;ENSP00000384689:L68V	ENSP00000288873:L86V	L	+	1	0	KRTCAP3	27519255	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	4.939000	0.63526	2.727000	0.93392	0.561000	0.74099	CTT		0.602	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		G	27665751	C	G	27665751	3	3	439	1	0	0	0	0	1	0	0	0	8579	681	24	3	266	3	KRTCAP3	2	27665751	Missense_Mutation	SNP	C	TCGA-61-1913-01A-01W-0639-09	2731889	27665751	215533622	11	24311											
LRP1B	53353	genome.wustl.edu	37	2	141986817	141986817	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr2:141986817A>C	ENST00000389484.3	-	6	1756	c.785T>G	c.(784-786)aTc>aGc	p.I262S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	262					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTATCTGGATACATTTGAG	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0			2											113	111	112					2																	141986817		2202	4300	6502	141703287	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.785T>G	2.37:g.141986817A>C	ENSP00000374135:p.Ile262Ser		141703287	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.868017	0.32977	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91792	-2.91	5.2	2.79	0.32731	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.326134	0.27941	U	0.017234	T	0.77191	0.4094	N	0.08118	0	0.21499	N	0.999667	B	0.06786	0.001	B	0.09377	0.004	T	0.60747	-0.7202	10	0.22109	T	0.4	.	0.9889	0.01452	0.4867:0.1951:0.1428:0.1754	.	262	Q9NZR2	LRP1B_HUMAN	S	262;200	ENSP00000374135:I262S	ENSP00000374135:I262S	I	-	2	0	LRP1B	141703287	0.984000	0.35163	0.978000	0.43139	0.995000	0.86356	1.573000	0.36472	0.809000	0.34255	0.477000	0.44152	ATC		0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141986817	A	C	141986817	3	2	439	1	0	0	0	0	1	0	0	0	8955	333	12	5	13358	5	LRP1B	2	141986817	Missense_Mutation	SNP	A	TCGA-61-1913-01A-01W-0639-09	114321066	141986817	101212556	12	24312											
NUP210	23225	genome.wustl.edu	37	3	13407548	13407548	+	Silent	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr3:13407548T>G	ENST00000254508.5	-	14	1912	c.1830A>C	c.(1828-1830)gtA>gtC	p.V610V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	610					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCTCGGCCTTTACCCGGATGC	0.557																																																0			3											81	76	78					3																	13407548		2203	4300	6503	13382548	SO:0001819	synonymous_variant	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1830A>C	3.37:g.13407548T>G			13382548	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																				0.557	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		G	13407548	T	G	13407548	2	3	439	1	0	0	0	0	0	0	0	1	10760	1741	61	5		5	NUP210	3	13407548	Silent	SNP	T	TCGA-61-1913-01A-01W-0639-09		13407548	184614882	13	24313											
PLCL2	23228	genome.wustl.edu	37	3	17052695	17052695	+	Silent	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr3:17052695T>G	ENST00000418129.2	+	2	1944	c.1479T>G	c.(1477-1479)tcT>tcG	p.S493S	PLCL2_ENST00000432376.1_Silent_p.S493S|PLCL2_ENST00000396755.2_Silent_p.S493S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	619	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAGAACTGTCTGAACTGGTCA	0.423																																																0			3											81	84	83					3																	17052695		2203	4300	6503	17027699	SO:0001819	synonymous_variant	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1479T>G	3.37:g.17052695T>G			17027699	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.689103	0.00738	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.63	-11.3	0.00108	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49163	-0.8968	4	.	.	.	.	4.2462	0.10672	0.2044:0.4173:0.2093:0.169	.	.	.	.	R	237	.	.	L	+	2	0	PLCL2	17027699	0.000000	0.05858	0.014000	0.15608	0.314000	0.28054	-4.691000	0.00198	-3.013000	0.00272	-0.256000	0.11100	CTG		0.423	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			G	17052695	T	G	17052695	2	3	439	1	0	0	0	0	0	0	0	1	12040	1567	55	5		5	PLCL2	3	17052695	Silent	SNP	T	TCGA-61-1913-01A-01W-0639-09	3645147	17052695	180969735	14	24314											
NEK10	152110	genome.wustl.edu	37	3	27333074	27333074	+	Silent	SNP	A	A	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr3:27333074A>G	ENST00000429845.2	-	18	1739	c.1377T>C	c.(1375-1377)ctT>ctC	p.L459L	NEK10_ENST00000341435.5_Silent_p.L459L|NEK10_ENST00000357467.2_5'Flank			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	459					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGTGGGGAAAAGTCTACAGA	0.363																																																0			3											74	63	67					3																	27333074		1568	3582	5150	27308078	SO:0001819	synonymous_variant	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1377T>C	3.37:g.27333074A>G			27308078	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	ENST00000429845.2	37																																																																																					0.363	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		G	27333074	A	G	27333074	2	3	439	1	0	0	0	0	0	0	0	1	10322	1	1	4		4	NEK10	3	27333074	Silent	SNP	A	TCGA-61-1913-01A-01W-0639-09	10280379	27333074	170689356	15	24315											
FAT1	2195	genome.wustl.edu	37	4	187629980	187629980	+	Silent	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr4:187629980G>C	ENST00000441802.2	-	2	1211	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	334					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTGTAGTGTGAGATTGTAGC	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0			4											199	190	193					4																	187629980		1909	4125	6034	187866974	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1002C>G	4.37:g.187629980G>C			187866974		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		C	187629980	G	C	187629980	2	2	439	1	0	0	0	0	0	0	0	1	5689	1277	45	3		3	FAT1	4	187629980	Silent	SNP	G	TCGA-61-1913-01A-01W-0639-09		187629980	3524296	16	24316											
TRIO	7204	genome.wustl.edu	37	5	14369481	14369481	+	Splice_Site	SNP	A	A	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr5:14369481A>T	ENST00000344204.4	+	18	3090		c.e18-1		TRIO_ENST00000509967.2_Splice_Site|TRIO_ENST00000537187.1_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCTGCTCACAGGTCTGCAGC	0.572																																																0			5											61	66	65					5																	14369481		2203	4300	6503	14422481	SO:0001630	splice_region_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3067-1A>T	5.37:g.14369481A>T			14422481	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450725	0.84101	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIO	14422481	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.339000	0.96797	2.231000	0.72958	0.460000	0.39030	.		0.572	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Intron	T	14369481	A	T	14369481	5	4	439	1	0	0	0	0	0	0	1	0	16552	202	7	5	3135	5	TRIO	5	14369481	Splice_Site	SNP	A	TCGA-61-1913-01A-01W-0639-09		14369481	166545779	17	24317											
TNPO1	3842	genome.wustl.edu	37	5	72185735	72185735	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr5:72185735A>T	ENST00000337273.5	+	14	2078	c.1652A>T	c.(1651-1653)gAt>gTt	p.D551V	TNPO1_ENST00000506351.2_Missense_Mutation_p.D543V|TNPO1_ENST00000523768.1_Missense_Mutation_p.D501V|TNPO1_ENST00000454282.1_Missense_Mutation_p.D501V	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	551					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATTCTTTACGATGCCATAGGA	0.358																																																0			5											108	102	104					5																	72185735		2203	4300	6503	72221491	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1652A>T	5.37:g.72185735A>T	ENSP00000336712:p.Asp551Val		72221491	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424785	0.83667	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.91917	0.5544	10	0.87932	D	0	-7.7143	15.3236	0.74141	1.0:0.0:0.0:0.0	.	501;551	Q92973-3;Q92973	.;TNPO1_HUMAN	V	551;501;501;543;62	ENSP00000336712:D551V;ENSP00000398524:D501V;ENSP00000428899:D501V;ENSP00000425118:D543V	ENSP00000336712:D551V	D	+	2	0	TNPO1	72221491	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	8.905000	0.92613	2.091000	0.63221	0.528000	0.53228	GAT		0.358	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		T	72185735	A	T	72185735	3	4	439	1	0	0	0	0	1	0	0	0	16335	333	12	5	1706	5	TNPO1	5	72185735	Missense_Mutation	SNP	A	TCGA-61-1913-01A-01W-0639-09	57816254	72185735	108729525	18	24318											
PCDHGA4	56111	genome.wustl.edu	37	5	140736622	140736622	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr5:140736622G>A	ENST00000571252.1	+	1	1855	c.1855G>A	c.(1855-1857)Gtg>Atg	p.V619M	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	619	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATTTGCAGTGGGGCTGCA	0.622																																																0			5											37	44	42					5																	140736622		2197	4297	6494	140716806	SO:0001583	missense	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1855G>A	5.37:g.140736622G>A	ENSP00000458570:p.Val619Met		140716806	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.622	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		A	140736622	G	A	140736622	3	1	439	1	0	0	0	0	1	0	0	0	11556	1029	36	2	1857	2	PCDHGA4	5	140736622	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	68550887	140736622	40178638	19	24319											
DOCK2	1794	genome.wustl.edu	37	5	169116297	169116297	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr5:169116297A>G	ENST00000256935.8	+	9	883	c.803A>G	c.(802-804)aAg>aGg	p.K268R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	268					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTTCCCTAAGGAGATTGAG	0.527																																																0			5											137	118	124					5																	169116297		2203	4300	6503	169048875	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.803A>G	5.37:g.169116297A>G	ENSP00000256935:p.Lys268Arg		169048875	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896241	0.52121	.	.	ENSG00000134516	ENST00000256935	T	0.18657	2.2	5.96	5.96	0.96718	.	0.043104	0.85682	D	0.000000	T	0.22975	0.0555	L	0.56280	1.765	0.80722	D	1	P	0.46395	0.877	B	0.40741	0.339	T	0.03384	-1.1042	10	0.18710	T	0.47	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	268	Q92608	DOCK2_HUMAN	R	268	ENSP00000256935:K268R	ENSP00000256935:K268R	K	+	2	0	DOCK2	169048875	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.432000	0.80349	2.285000	0.76669	0.533000	0.62120	AAG		0.527	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		G	169116297	A	G	169116297	3	3	439	1	0	0	0	0	1	0	0	0	4687	72	3	4	837	4	DOCK2	5	169116297	Missense_Mutation	SNP	A	TCGA-61-1913-01A-01W-0639-09	28379675	169116297	11798963	20	24320											
DOPEY1	23033	genome.wustl.edu	37	6	83845492	83845492	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr6:83845492G>A	ENST00000349129.2	+	20	3285	c.3025G>A	c.(3025-3027)Gtt>Att	p.V1009I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.V1000I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V990I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1009					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACTCAGAGGGTTTCAGTACA	0.448																																																0			6											154	138	144					6																	83845492		2203	4299	6502	83902211	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3025G>A	6.37:g.83845492G>A	ENSP00000195654:p.Val1009Ile		83902211	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346664	0.41599	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.21932	1.98;1.98	5.48	5.48	0.80851	.	0.058137	0.64402	D	0.000002	T	0.06371	0.0164	N	0.21448	0.665	0.80722	D	1	B;B;B	0.11235	0.004;0.003;0.003	B;B;B	0.14023	0.01;0.004;0.004	T	0.20472	-1.0274	10	0.15499	T	0.54	.	13.6386	0.62237	0.0739:0.0:0.9261:0.0	.	900;1000;1009	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	I	1009;990;990	ENSP00000195654:V1009I;ENSP00000237163:V990I	ENSP00000237163:V990I	V	+	1	0	DOPEY1	83902211	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.422000	0.66453	2.568000	0.86640	0.655000	0.94253	GTT		0.448	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		A	83845492	G	A	83845492	3	1	439	1	0	0	0	0	1	0	0	0	4707	1261	44	2	3095	2	DOPEY1	6	83845492	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09		83845492	87269575	21	24321											
AKAP12	9590	genome.wustl.edu	37	6	151672607	151672607	+	Silent	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr6:151672607T>G	ENST00000253332.1	+	3	3270	c.3081T>G	c.(3079-3081)ggT>ggG	p.G1027G	AKAP12_ENST00000402676.2_Silent_p.G1027G|AKAP12_ENST00000354675.6_Silent_p.G929G|AKAP12_ENST00000359755.5_Silent_p.G922G			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1027					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGTGGAAGGTGGCGTACCTG	0.577																																					Melanoma(141;1616 1805 10049 24534 51979)											0			6											60	58	59					6																	151672607		2203	4300	6503	151714300	SO:0001819	synonymous_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3081T>G	6.37:g.151672607T>G			151714300	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.577	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			G	151672607	T	G	151672607	2	3	439	1	0	0	0	0	0	0	0	1	448	1683	59	5		5	AKAP12	6	151672607	Silent	SNP	T	TCGA-61-1913-01A-01W-0639-09	67827115	151672607	19442460	22	24322											
DNAH11	8701	genome.wustl.edu	37	7	21726982	21727000	+	Splice_Site	DEL	CCTCACTTTATCATTTAGT	CCTCACTTTATCATTTAGT	-	rs529906077		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	CCTCACTTTATCATTTAGT	CCTCACTTTATCATTTAGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr7:21726982_21727000delCCTCACTTTATCATTTAGT	ENST00000409508.3	+	34	5809_5810	c.5778_5779delCCTCACTTTATCATTTAGT	c.(5776-5781)aacctc>aatc	p.L1927fs	DNAH11_ENST00000328843.6_Splice_Site_p.L1934fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1934	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTCTGAGTGCCTCACTTTATCATTTAGTCCATAGGCAA	0.384									Kartagener syndrome																																							0			7																																								21693525	SO:0001630	splice_region_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5779-1CCTCACTTTATCATTTAGT>-	7.37:g.21726982_21727000delCCTCACTTTATCATTTAGT			21693507	Q9UJ82	Splice_Site	DEL	ENST00000409508.3	37																																																																																					0.384	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Frame_Shift_Del	-	21727000	CCTCACTTTATCATTTAGT	-	21726982	8	5	439	1	0	1	0	1	0	0	1	0	4599	754	26	0		0	DNAH11	7	21726982	Splice_Site	DEL	CCTCACTTTATCATTTAGT	TCGA-61-1913-01A-01W-0639-09		21726982	137411681	23	24323											
FBXO24	26261	genome.wustl.edu	37	7	100197772	100197772	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr7:100197772G>C	ENST00000241071.6	+	9	1647	c.1325G>C	c.(1324-1326)cGc>cCc	p.R442P	FBXO24_ENST00000427939.2_Missense_Mutation_p.R480P|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R430P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	442					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCTGGGGGCCGCCTCCCAGGC	0.662																																																0			7											13	15	14					7																	100197772		2200	4293	6493	100035708	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1325G>C	7.37:g.100197772G>C	ENSP00000241071:p.Arg442Pro		100035708	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759474	0.69763	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.80738	-1.41;-1.41;-1.41	4.44	4.44	0.53790	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.49916	D	0.000127	D	0.83101	0.5181	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.995	D	0.85726	0.1328	10	0.87932	D	0	-16.438	14.5786	0.68268	0.0:0.0:1.0:0.0	.	430;480;442	B4DY42;B4DX91;O75426	.;.;FBX24_HUMAN	P	442;430;480	ENSP00000241071:R442P;ENSP00000420239:R430P;ENSP00000416558:R480P	ENSP00000241071:R442P	R	+	2	0	FBXO24	100035708	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	4.979000	0.63806	2.023000	0.59567	0.442000	0.29010	CGC		0.662	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			C	100197772	G	C	100197772	3	2	439	1	0	0	0	0	1	0	0	0	5735	1087	38	3	1516	3	FBXO24	7	100197772	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	78470790	100197772	58940891	24	24324											
MUC17	140453	genome.wustl.edu	37	7	100679985	100679985	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr7:100679985G>T	ENST00000306151.4	+	3	5352	c.5288G>T	c.(5287-5289)aGt>aTt	p.S1763I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1763	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTACTCAGTTCTGAGGCT	0.502																																																0			7											292	305	301					7																	100679985		2203	4300	6503	100466705	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5288G>T	7.37:g.100679985G>T	ENSP00000302716:p.Ser1763Ile		100466705	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.732	-0.779643	0.02929	.	.	ENSG00000169876	ENST00000306151	T	0.02050	4.48	0.512	0.512	0.16994	.	.	.	.	.	T	0.01765	0.0056	N	0.14661	0.345	0.09310	N	1	D	0.54964	0.969	B	0.43728	0.429	T	0.53535	-0.8425	8	0.45353	T	0.12	.	.	.	.	.	1763	Q685J3	MUC17_HUMAN	I	1763	ENSP00000302716:S1763I	ENSP00000302716:S1763I	S	+	2	0	MUC17	100466705	0.007000	0.16637	0.007000	0.13788	0.012000	0.07955	-0.931000	0.03967	0.551000	0.29008	0.134000	0.15878	AGT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100679985	G	T	100679985	3	4	439	1	0	0	0	0	1	0	0	0	9974	1029	36	3	5298	3	MUC17	7	100679985	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	482213	100679985	58458678	25	24325											
ANK1	286	genome.wustl.edu	37	8	41547779	41547779	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr8:41547779C>T	ENST00000347528.4	-	33	4153	c.4070G>A	c.(4069-4071)tGc>tAc	p.C1357Y	ANK1_ENST00000265709.8_Missense_Mutation_p.C1398Y|ANK1_ENST00000396942.1_Missense_Mutation_p.C1357Y|ANK1_ENST00000396945.1_Missense_Mutation_p.C1357Y|ANK1_ENST00000289734.7_Missense_Mutation_p.C1357Y|ANK1_ENST00000352337.4_Missense_Mutation_p.C1357Y|ANK1_ENST00000379758.2_Missense_Mutation_p.C1357Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1357	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTTCAGGTGGCAGAGAATGTG	0.607																																																0			8											129	106	114					8																	41547779		2203	4300	6503	41666936	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4070G>A	8.37:g.41547779C>T	ENSP00000339620:p.Cys1357Tyr		41666936	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631753	0.87660	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.85542	2.76	0.80722	D	1	D;D;B;B;D;D	0.89917	1.0;1.0;0.009;0.043;1.0;0.987	D;D;B;B;D;P	0.97110	1.0;0.999;0.019;0.018;1.0;0.658	T	0.67825	-0.5570	10	0.87932	D	0	.	17.6336	0.88116	0.0:1.0:0.0:0.0	.	1398;1357;1357;1357;1357;673	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	Y	1357;1357;1357;1357;1357;1357;1398;1357	ENSP00000339620:C1357Y;ENSP00000289734:C1357Y;ENSP00000369082:C1357Y;ENSP00000380149:C1357Y;ENSP00000380147:C1357Y;ENSP00000309131:C1357Y;ENSP00000265709:C1398Y	ENSP00000265709:C1398Y	C	-	2	0	ANK1	41666936	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.538000	0.82048	2.628000	0.89032	0.563000	0.77884	TGC		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41547779	C	T	41547779	3	4	439	1	0	0	0	0	1	0	0	0	620	710	25	2	1941	2	ANK1	8	41547779	Missense_Mutation	SNP	C	TCGA-61-1913-01A-01W-0639-09		41547779	104816243	26	24326											
ZFPM2	23414	genome.wustl.edu	37	8	106814636	106814636	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr8:106814636C>A	ENST00000407775.2	+	8	2576	c.2326C>A	c.(2326-2328)Ccc>Acc	p.P776T	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P644T|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P507T|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P644T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	776					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACTCAAGAACCCACAGAAGG	0.468																																																0			8											65	64	64					8																	106814636		1932	4133	6065	106883812	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2326C>A	8.37:g.106814636C>A	ENSP00000384179:p.Pro776Thr		106883812	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	2.554	-0.303367	0.05495	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.17528	2.27;2.75;2.75;3.96	5.72	2.85	0.33270	.	0.290139	0.39687	N	0.001295	T	0.06554	0.0168	N	0.04508	-0.205	0.26118	N	0.980582	B	0.02656	0.0	B	0.04013	0.001	T	0.35500	-0.9786	10	0.20519	T	0.43	.	6.7617	0.23544	0.0:0.5633:0.2584:0.1782	.	776	Q8WW38	FOG2_HUMAN	T	776;644;644;507	ENSP00000384179:P776T;ENSP00000430757:P644T;ENSP00000428720:P644T;ENSP00000367733:P507T	ENSP00000367733:P507T	P	+	1	0	ZFPM2	106883812	0.029000	0.19370	0.944000	0.38274	0.991000	0.79684	0.372000	0.20467	0.734000	0.32515	0.561000	0.74099	CCC		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			A	106814636	C	A	106814636	3	1	439	1	0	0	0	0	1	0	0	0	17658	507	18	3	2356	3	ZFPM2	8	106814636	Missense_Mutation	SNP	C	TCGA-61-1913-01A-01W-0639-09	65266857	106814636	39549386	27	24327											
TLL2	7093	genome.wustl.edu	37	10	98133517	98133517	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr10:98133517T>G	ENST00000357947.3	-	19	2723	c.2498A>C	c.(2497-2499)cAc>cCc	p.H833P		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	833	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CATTTCCAGGTGGTCATAGGC	0.582																																																0			10											63	64	64					10																	98133517		2203	4300	6503	98123507	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2498A>C	10.37:g.98133517T>G	ENSP00000350630:p.His833Pro		98123507	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391423	0.83011	.	.	ENSG00000095587	ENST00000357947	T	0.34667	1.35	4.85	3.72	0.42706	CUB (5);	0.000000	0.48286	D	0.000191	T	0.59582	0.2204	M	0.91972	3.26	0.58432	D	0.999995	D	0.55800	0.973	P	0.57244	0.816	T	0.66097	-0.6008	10	0.66056	D	0.02	.	9.8391	0.40989	0.0:0.0806:0.0:0.9194	.	833	Q9Y6L7	TLL2_HUMAN	P	833	ENSP00000350630:H833P	ENSP00000350630:H833P	H	-	2	0	TLL2	98123507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.097000	0.71452	0.994000	0.38892	0.459000	0.35465	CAC		0.582	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			G	98133517	T	G	98133517	3	3	439	1	0	0	0	0	1	0	0	0	15946	1696	59	5	561	5	TLL2	10	98133517	Missense_Mutation	SNP	T	TCGA-61-1913-01A-01W-0639-09		98133517	37401230	28	24328											
C11orf74	119710	genome.wustl.edu	37	11	36631701	36631701	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr11:36631701A>C	ENST00000334307.5	+	2	163	c.48A>C	c.(46-48)ttA>ttC	p.L16F	C11orf74_ENST00000347206.4_Missense_Mutation_p.L16F|C11orf74_ENST00000446510.2_Missense_Mutation_p.L16F|C11orf74_ENST00000534635.1_Missense_Mutation_p.L16F	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	16										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAGATCAATTAATCAAAGACG	0.358																																																0			11											101	103	103					11																	36631701		2202	4298	6500	36588277	SO:0001583	missense	119710			AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.48A>C	11.37:g.36631701A>C	ENSP00000334848:p.Leu16Phe		36588277	D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998312	0.35226	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635;ENST00000446510;ENST00000530697;ENST00000527108;ENST00000532470	.	.	.	6.17	3.85	0.44370	.	0.797524	0.11236	N	0.585081	T	0.56187	0.1968	M	0.74881	2.28	0.23802	N	0.996804	D;D	0.56746	0.977;0.977	P;P	0.56648	0.803;0.803	T	0.43861	-0.9365	9	0.56958	D	0.05	-0.1516	7.6225	0.28193	0.7887:0.1407:0.0706:0.0	.	16;16	Q86VG3;Q86VG3-2	CK074_HUMAN;.	F	16	.	ENSP00000334848:L16F	L	+	3	2	C11orf74	36588277	0.936000	0.31750	0.120000	0.21714	0.226000	0.24999	1.587000	0.36622	0.552000	0.29026	0.533000	0.62120	TTA		0.358	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		C	36631701	A	C	36631701	3	2	439	1	0	0	0	0	1	0	0	0	1662	359	13	5	50	5	C11orf74	11	36631701	Missense_Mutation	SNP	A	TCGA-61-1913-01A-01W-0639-09		36631701	98374815	29	24329											
KDELC2	143888	genome.wustl.edu	37	11	108345580	108345580	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr11:108345580T>G	ENST00000323468.5	-	8	1563	c.1498A>C	c.(1498-1500)Aaa>Caa	p.K500Q	KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000434945.2_Missense_Mutation_p.K444Q	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	500						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GAAGGCTTTTTCCTGTGGCAC	0.483																																																0			11											170	172	171					11																	108345580		1957	4135	6092	107850790	SO:0001583	missense	143888			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1498A>C	11.37:g.108345580T>G	ENSP00000315386:p.Lys500Gln		107850790	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	CCDS41711.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.47|12.47	1.948650|1.948650	0.34377|0.34377	.|.	.|.	ENSG00000178202|ENSG00000178202	ENST00000530318|ENST00000323468;ENST00000434945	.|T;T	.|0.19394	.|2.15;2.16	4.73|4.73	3.58|3.58	0.41010|0.41010	.|.	.|0.468579	.|0.24463	.|N	.|0.038314	T|T	0.18676|0.18676	0.0448|0.0448	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19073	.|0.033;0.01	.|B;B	.|0.26310	.|0.068;0.015	T|T	0.03818|0.03818	-1.1001|-1.1001	5|10	.|0.49607	.|T	.|0.09	-31.6036|-31.6036	9.9392|9.9392	0.41570|0.41570	0.0:0.0838:0.0:0.9162|0.0:0.0838:0.0:0.9162	.|.	.|500;444	.|Q7Z4H8;Q7Z4H8-2	.|KDEL2_HUMAN;.	A|Q	152|500;444	.|ENSP00000315386:K500Q;ENSP00000413429:K444Q	.|ENSP00000315386:K500Q	E|K	-|-	2|1	0|0	KDELC2|KDELC2	107850790|107850790	0.616000|0.616000	0.27035|0.27035	0.204000|0.204000	0.23530|0.23530	0.934000|0.934000	0.57294|0.57294	1.377000|1.377000	0.34317|0.34317	0.941000|0.941000	0.37499|0.37499	0.529000|0.529000	0.55759|0.55759	GAA|AAA		0.483	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		G	108345580	T	G	108345580	3	3	439	1	0	0	0	0	1	0	0	0	8118	1792	62	5	29	5	KDELC2	11	108345580	Missense_Mutation	SNP	T	TCGA-61-1913-01A-01W-0639-09	71713879	108345580	26660936	30	24330											
SLC37A4	51399	genome.wustl.edu	37	11	118896779	118896779	+	IGR	SNP	G	G	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr11:118896779G>T	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000357590.5_Silent_p.S294S|SLC37A4_ENST00000545985.1_Silent_p.S294S|SLC37A4_ENST00000330775.7_Silent_p.S293S|SLC37A4_ENST00000538950.1_Silent_p.S221S|SLC37A4_ENST00000525102.1_5'UTR	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TCCCGTAGTTGGACAGTCCCG	0.582																																																0			11											57	66	63					11																	118896779		2093	4230	6323	118401989	SO:0001628	intergenic_variant	2542			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118896779G>T			118401989	A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1																																																																																				0.582	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		T	118896779	G	T	118896779	1	4	439	0	1	0	0	0	0	0	0	0	14603	1335	47	3		3	SLC37A4	11	118896779	IGR	SNP	G	TCGA-61-1913-01A-01W-0639-09	10551199	118896779	16109737	31	24331											
B4GALNT3	283358	genome.wustl.edu	37	12	662909	662909	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:662909A>T	ENST00000266383.5	+	14	1833	c.1820A>T	c.(1819-1821)gAa>gTa	p.E607V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	607					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			gagggagaggaagagggggaa	0.612																																																0			12											66	55	59					12																	662909		2202	4300	6502	533170	SO:0001583	missense	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1820A>T	12.37:g.662909A>T	ENSP00000266383:p.Glu607Val		533170	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455782	0.43634	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.36520	3.3;1.25	5.63	1.79	0.24919	.	0.474540	0.21011	N	0.081698	T	0.25865	0.0630	L	0.48642	1.525	0.18873	N	0.999981	B;B	0.26195	0.144;0.03	B;B	0.20955	0.032;0.01	T	0.23013	-1.0200	10	0.72032	D	0.01	-5.8951	3.9282	0.09273	0.5726:0.2431:0.0672:0.1171	.	510;607	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	V	607;510	ENSP00000266383:E607V;ENSP00000322953:E510V	ENSP00000266383:E607V	E	+	2	0	B4GALNT3	533170	0.994000	0.37717	0.233000	0.24025	0.893000	0.52053	2.228000	0.42981	0.383000	0.24910	0.459000	0.35465	GAA		0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		T	662909	A	T	662909	3	4	439	1	0	0	0	0	1	0	0	0	1268	246	9	5	1874	5	B4GALNT3	12	662909	Missense_Mutation	SNP	A	TCGA-61-1913-01A-01W-0639-09		662909	133188986	32	24332											
KIAA0528	9847	genome.wustl.edu	37	12	22635666	22635666	+	Nonsense_Mutation	SNP	A	A	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:22635666A>C	ENST00000333957.4	-	14	1817	c.1562T>G	c.(1561-1563)tTa>tGa	p.L521*	C2CD5_ENST00000536386.1_Nonsense_Mutation_p.L523*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.L336*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.L512*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.L521*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.L521*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.L534*	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	521					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTTCTTTTTTAAGCGACATAA	0.333																																																0			12											124	121	122					12																	22635666		2202	4300	6502	22526933	SO:0001587	stop_gained	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1562T>G	12.37:g.22635666A>C	ENSP00000334229:p.Leu521*		22526933	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Nonsense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	A	38	6.740077	0.97805	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.	.	.	5.59	4.43	0.53597	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-13.9512	11.9526	0.52964	0.8697:0.0:0.0:0.1302	.	.	.	.	X	521;521;523;512;521;534;336	.	ENSP00000334229:L521X	L	-	2	0	KIAA0528	22526933	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.443000	0.73447	0.924000	0.37069	-0.341000	0.08007	TTA		0.333	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		C	22635666	A	C	22635666	4	2	439	1	0	0	0	0	0	1	0	0	8182	372	13	5	1488	5	KIAA0528	12	22635666	Nonsense_Mutation	SNP	A	TCGA-61-1913-01A-01W-0639-09	21972757	22635666	111216229	33	24333											
SLC11A2	4891	genome.wustl.edu	37	12	51402279	51402292	+	Frame_Shift_Del	DEL	TCTTCTCATTAAAG	TCTTCTCATTAAAG	-			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	TCTTCTCATTAAAG	TCTTCTCATTAAAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:51402279_51402292delTCTTCTCATTAAAG	ENST00000262051.7	-	3	237_250	c.150_163delCTTTAATGAGAAGA	c.(148-165)tactttaatgagaagatcfs	p.FNEKI51fs	SLC11A2_ENST00000545993.2_Frame_Shift_Del_p.FNEKI47fs|SLC11A2_ENST00000262052.5_Frame_Shift_Del_p.FNEKI51fs|SLC11A2_ENST00000547198.1_Frame_Shift_Del_p.FNEKI51fs|SLC11A2_ENST00000394904.3_Frame_Shift_Del_p.FNEKI80fs|SLC11A2_ENST00000541174.2_Frame_Shift_Del_p.FNEKI51fs|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000547688.1_Frame_Shift_Del_p.FNEKI80fs	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	51					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						GGAATGGAGATCTTCTCATTAAAGTAAGTGGCGA	0.481																																																0			12																																								49688559	SO:0001589	frameshift_variant	4891			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"Solute carriers"	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.150_163delCTTTAATGAGAAGA	12.37:g.51402279_51402292delTCTTCTCATTAAAG	ENSP00000262051:p.Phe51fs		49688546	B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Frame_Shift_Del	DEL	ENST00000262051.7	37	CCDS53792.1																																																																																				0.481	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			-	51402292	TCTTCTCATTAAAG	-	51402279	7	5	439	1	0	1	0	1	0	0	0	0	14384	1435	50	0	1660	0	SLC11A2	12	51402279	Frame_Shift_Del	DEL	TCTTCTCATTAAAG	TCGA-61-1913-01A-01W-0639-09	28766613	51402279	82449616	34	24334											
NAV3	89795	genome.wustl.edu	37	12	78400952	78400952	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:78400952G>A	ENST00000397909.2	+	8	1807	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N	NAV3_ENST00000228327.6_Missense_Mutation_p.S545N|NAV3_ENST00000536525.2_Missense_Mutation_p.S545N|NAV3_ENST00000266692.7_Missense_Mutation_p.S545N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	545						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCACCTGGCAGCACAGCAAGC	0.453										HNSCC(70;0.22)																																						0			12											63	64	63					12																	78400952		1910	4126	6036	76925083	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1634G>A	12.37:g.78400952G>A	ENSP00000381007:p.Ser545Asn		76925083	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	3.783	-0.045209	0.07452	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.29	1.31	0.21738	.	0.491667	0.16815	N	0.198409	T	0.10508	0.0257	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.31024	-0.9958	10	0.29301	T	0.29	-2.762	5.3022	0.15783	0.3138:0.135:0.5513:0.0	.	545;545	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	N	545	ENSP00000446628:S545N;ENSP00000446132:S545N;ENSP00000381007:S545N;ENSP00000228327:S545N;ENSP00000266692:S545N	ENSP00000228327:S545N	S	+	2	0	NAV3	76925083	0.000000	0.05858	0.003000	0.11579	0.986000	0.74619	0.261000	0.18442	-0.027000	0.13873	0.650000	0.86243	AGC		0.453	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78400952	G	A	78400952	3	1	439	1	0	0	0	0	1	0	0	0	10185	971	34	2	1664	2	NAV3	12	78400952	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	26998673	78400952	55450943	35	24335											
GLT1D1	144423	genome.wustl.edu	37	12	129467541	129467541	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:129467541G>A	ENST00000442111.2	+	12	1035	c.947G>A	c.(946-948)gGa>gAa	p.G316E	GLT1D1_ENST00000537468.1_Missense_Mutation_p.G321E|GLT1D1_ENST00000542193.1_Missense_Mutation_p.G233E|GLT1D1_ENST00000281703.6_Missense_Mutation_p.G236E			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	316					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GTAGTGAACGGAAGGGAATAC	0.448																																																0			12											202	183	190					12																	129467541		2203	4300	6503	128033494	SO:0001583	missense	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.947G>A	12.37:g.129467541G>A	ENSP00000394692:p.Gly316Glu		128033494	Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37		.	.	.	.	.	.	.	.	.	.	G	14.98	2.696039	0.48202	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.13	3.26	0.37387	.	0.247600	0.39475	N	0.001341	D	0.83529	0.5274	M	0.82517	2.595	0.09310	N	1	P;B	0.40211	0.707;0.011	B;B	0.42653	0.394;0.016	T	0.77054	-0.2730	10	0.87932	D	0	-36.5418	7.7465	0.28873	0.0861:0.311:0.603:0.0	.	321;236	F5H088;Q96MS3-2	.;.	E	316;236;321;233	ENSP00000394692:G316E;ENSP00000281703:G236E;ENSP00000438158:G321E;ENSP00000437500:G233E	ENSP00000281703:G236E	G	+	2	0	GLT1D1	128033494	0.939000	0.31865	0.009000	0.14445	0.001000	0.01503	2.104000	0.41815	0.644000	0.30656	-0.244000	0.11960	GGA		0.448	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		A	129467541	G	A	129467541	3	1	439	1	0	0	0	0	1	0	0	0	6465	1174	41	2	737	2	GLT1D1	12	129467541	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	51066589	129467541	4384354	36	24336											
CHRM5	1133	genome.wustl.edu	37	15	34355068	34355068	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr15:34355068G>C	ENST00000383263.5	+	3	820	c.150G>C	c.(148-150)ttG>ttC	p.L50F	CHRM5_ENST00000557872.1_Missense_Mutation_p.L50F	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	50					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCAATGTCTTGGTCATGATCT	0.473																																																0			15											204	165	178					15																	34355068		2201	4298	6499	32142360	SO:0001583	missense	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.150G>C	15.37:g.34355068G>C	ENSP00000372750:p.Leu50Phe		32142360	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324405	0.41197	.	.	ENSG00000184984	ENST00000383263	T	0.78481	-1.18	5.64	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.073323	0.53938	N	0.000055	T	0.75613	0.3873	M	0.73372	2.23	0.53688	D	0.999979	B	0.29909	0.261	B	0.41813	0.367	T	0.70941	-0.4735	10	0.66056	D	0.02	-8.1667	0.446	0.00493	0.2312:0.1329:0.317:0.319	.	50	P08912	ACM5_HUMAN	F	50	ENSP00000372750:L50F	ENSP00000372750:L50F	L	+	3	2	CHRM5	32142360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.724000	0.25954	0.318000	0.23185	0.650000	0.86243	TTG		0.473	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			C	34355068	G	C	34355068	3	2	439	1	0	0	0	0	1	0	0	0	3380	1339	47	3	152	3	CHRM5	15	34355068	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09		34355068	68176324	37	24337											
TLE3	7090	genome.wustl.edu	37	15	70350516	70350516	+	Missense_Mutation	SNP	G	G	A	rs148338226		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr15:70350516G>A	ENST00000558939.1	-	12	2410	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S	TLE3_ENST00000539550.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000559048.1_Missense_Mutation_p.P350S|TLE3_ENST00000560939.1_Missense_Mutation_p.P350S|TLE3_ENST00000451782.2_Missense_Mutation_p.P345S|TLE3_ENST00000557907.1_Missense_Mutation_p.P345S|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558379.1_Missense_Mutation_p.P345S|TLE3_ENST00000559929.1_Missense_Mutation_p.P355S|TLE3_ENST00000557997.1_Missense_Mutation_p.P345S|TLE3_ENST00000558201.1_Missense_Mutation_p.P351S|TLE3_ENST00000560589.1_Missense_Mutation_p.P289S|TLE3_ENST00000440567.3_Missense_Mutation_p.P338S|TLE3_ENST00000442299.2_Missense_Mutation_p.P345S	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	345	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCATGCCCGGAGGTTTACCC	0.627																																																0			15											103	106	105					15																	70350516		1981	4143	6124	68137570	SO:0001583	missense	7090			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1033C>T	15.37:g.70350516G>A	ENSP00000452871:p.Pro345Ser		68137570	B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621970	0.28889	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567	T;T;T	0.47869	0.83;0.89;0.89	5.44	0.98	0.19750	.	0.496599	0.22120	N	0.064354	T	0.38134	0.1029	M	0.62088	1.915	0.31265	N	0.692489	B;B;B;B;B;B	0.23937	0.007;0.021;0.007;0.094;0.022;0.037	B;B;B;B;B;B	0.24269	0.02;0.014;0.013;0.039;0.019;0.052	T	0.36529	-0.9744	10	0.46703	T	0.11	-11.6837	3.8519	0.08959	0.1554:0.2709:0.4611:0.1127	.	338;345;345;345;345;350	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726;Q04726-4	.;.;.;.;TLE3_HUMAN;.	S	345;345;345;338	ENSP00000390007:P345S;ENSP00000394717:P345S;ENSP00000415057:P338S	ENSP00000319233:P345S	P	-	1	0	TLE3	68137570	0.016000	0.18221	0.645000	0.29479	0.525000	0.34531	0.264000	0.18497	0.707000	0.31934	0.655000	0.94253	CCG		0.627	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		A	70350516	G	A	70350516	3	1	439	1	0	0	0	0	1	0	0	0	15940	1174	41	2	1321	2	TLE3	15	70350516	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	35995448	70350516	32180876	38	24338											
HCN4	10021	genome.wustl.edu	37	15	73621968	73621968	+	Silent	SNP	G	G	A	rs146306966	byFrequency	TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr15:73621968G>A	ENST00000261917.3	-	4	2529	c.1536C>T	c.(1534-1536)caC>caT	p.H512H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	512					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGCAGTGGCGTGGCCAATGA	0.647													G|||	4	0.000798722	8e-04	0	5008	,	,		18261	0		0	False		,,,				2504	0.0031															0			15						G		2,4394	4.2+/-10.8	0,2,2196	89	78	81		1536	-4.1	1	15	dbSNP_134	81	0,8594		0,0,4297	no	coding-synonymous	HCN4	NM_005477.2		0,2,6493	AA,AG,GG		0.0,0.0455,0.0154		512/1204	73621968	2,12988	2198	4297	6495	71409021	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1536C>T	15.37:g.73621968G>A			71409021	Q9UMQ7	Silent	SNP	ENST00000261917.3	37	CCDS10248.1																																																																																				0.647	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		A	73621968	G	A	73621968	2	1	439	1	0	0	0	0	0	0	0	1	6999	1136	40	1		1	HCN4	15	73621968	Silent	SNP	G	TCGA-61-1913-01A-01W-0639-09	3271452	73621968	28909424	39	24339											
TP53	7157	genome.wustl.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr17:7577551C>T	ENST00000269305.4	-	7	919	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_ENST00000359597.4_Missense_Mutation_p.G244S|TP53_ENST00000420246.2_Missense_Mutation_p.G244S|TP53_ENST00000413465.2_Missense_Mutation_p.G244S|TP53_ENST00000445888.2_Missense_Mutation_p.G244S|TP53_ENST00000455263.2_Missense_Mutation_p.G244S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCATGCCGCCCATGCAGGAA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	17											147	111	123					17																	7577551		2203	4300	6503	7518276	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>A	17.37:g.7577551C>T	ENSP00000269305:p.Gly244Ser		7518276	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204381	0.95033	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.946;1.0;1.0;1.0;1.0	D	0.96039	0.9023	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244S;ENSP00000352610:G244S;ENSP00000269305:G244S;ENSP00000398846:G244S;ENSP00000391127:G244S;ENSP00000391478:G244S;ENSP00000425104:G112S;ENSP00000423862:G151S	ENSP00000269305:G244S	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577551	C	T	7577551	3	4	439	1	0	0	0	0	1	0	0	0	16381	623	22	2	560	2	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-61-1913-01A-01W-0639-09		7577551	73617659	40	24340											
MRPL10	124995	genome.wustl.edu	37	17	45905922	45905922	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr17:45905922G>C	ENST00000351111.2	-	2	172	c.167C>G	c.(166-168)cCg>cGg	p.P56R	MRPL10_ENST00000290208.7_Missense_Mutation_p.P66R|MRPL10_ENST00000414011.1_Missense_Mutation_p.P66R	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	56					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGCTGGTTTCGGGGGGATATA	0.577																																																0			17											53	52	52					17																	45905922		2203	4300	6503	43260921	SO:0001583	missense	124995			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.167C>G	17.37:g.45905922G>C	ENSP00000324100:p.Pro56Arg		43260921	A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601263	0.66445	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.54071	0.59;2.5;2.5	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.79475	2.455	0.80722	D	1	P;P	0.50819	0.939;0.929	P;P	0.46543	0.509;0.52	T	0.67852	-0.5563	10	0.52906	T	0.07	-9.192	18.0671	0.89394	0.0:0.0:1.0:0.0	.	56;66	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	R	56;66;66	ENSP00000324100:P56R;ENSP00000290208:P66R;ENSP00000395870:P66R	ENSP00000290208:P66R	P	-	2	0	MRPL10	43260921	1.000000	0.71417	0.940000	0.37924	0.324000	0.28378	8.956000	0.93066	2.572000	0.86782	0.655000	0.94253	CCG		0.577	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		C	45905922	G	C	45905922	3	2	439	1	0	0	0	0	1	0	0	0	9775	1116	39	3	634	3	MRPL10	17	45905922	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	38328371	45905922	35289288	41	24341											
SDK2	54549	genome.wustl.edu	37	17	71361404	71361404	+	Silent	SNP	G	G	A	rs142027922	byFrequency	TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr17:71361404G>A	ENST00000392650.3	-	38	5298	c.5298C>T	c.(5296-5298)ccC>ccT	p.P1766P	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.P1747P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1766	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CACCATCCACGGGGCTGCAGG	0.612																																																0			17						A		0,4406		0,0,2203	26	26	26		5298	-7.6	0.9	17	dbSNP_134	26	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	SDK2	NM_001144952.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		1766/2173	71361404	3,13003	2203	4300	6503	68872999	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5298C>T	17.37:g.71361404G>A			68872999	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1																																																																																				0.612	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71361404	G	A	71361404	2	1	439	1	0	0	0	0	0	0	0	1	13972	1103	39	1		1	SDK2	17	71361404	Silent	SNP	G	TCGA-61-1913-01A-01W-0639-09	25455482	71361404	9833806	42	24342											
RNF157	114804	genome.wustl.edu	37	17	74158644	74158644	+	Missense_Mutation	SNP	G	G	C	rs556471872		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr17:74158644G>C	ENST00000269391.6	-	9	913	c.781C>G	c.(781-783)Caa>Gaa	p.Q261E	RNF157_ENST00000319945.6_Missense_Mutation_p.Q261E	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	261							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TTAGAATCTTGTGTGTTGTAC	0.438																																					GBM(186;507 2120 27388 27773 52994)											0			17											127	109	115					17																	74158644		2203	4300	6503	71670239	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.781C>G	17.37:g.74158644G>C	ENSP00000269391:p.Gln261Glu		71670239	Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428222	0.83667	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.23348	1.91;1.94	5.46	5.46	0.80206	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	N	0.26042	0.785	0.80722	D	1	P;B	0.36110	0.537;0.23	B;B	0.36959	0.237;0.032	T	0.02202	-1.1196	10	0.36615	T	0.2	-43.6771	19.3121	0.94192	0.0:0.0:1.0:0.0	.	261;261	Q96PX1-2;Q96PX1	.;RN157_HUMAN	E	261;261;223	ENSP00000269391:Q261E;ENSP00000321837:Q261E	ENSP00000269391:Q261E	Q	-	1	0	RNF157	71670239	1.000000	0.71417	0.934000	0.37439	0.988000	0.76386	9.807000	0.99171	2.544000	0.85801	0.655000	0.94253	CAA		0.438	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		C	74158644	G	C	74158644	3	2	439	1	0	0	0	0	1	0	0	0	13457	1386	48	3	1302	3	RNF157	17	74158644	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	2797240	74158644	7036566	43	24343											
TIMM50	92609	genome.wustl.edu	37	19	39971490	39971490	+	5'UTR	SNP	C	C	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:39971490C>G	ENST00000607714.1	+	0	19				TIMM50_ENST00000314349.4_Silent_p.R102R|TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000599794.1_5'UTR			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCGTCAGCGCAAGATGGCGG	0.756																																																0			19											9	11	10					19																	39971490		2155	4176	6331	44663330	SO:0001623	5_prime_UTR_variant	92609			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.-4C>G	19.37:g.39971490C>G			44663330	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	ENST00000607714.1	37																																																																																					0.756	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		G	39971490	C	G	39971490	1	3	439	0	1	0	0	0	0	0	0	0	15913	697	25	3		3	TIMM50	19	39971490	5'UTR	SNP	C	TCGA-61-1913-01A-01W-0639-09		39971490	19157493	44	24344											
ADCK4	79934	genome.wustl.edu	37	19	41211305	41211305	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:41211305C>T	ENST00000324464.3	-	6	716	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	ADCK4_ENST00000243583.6_Intron|ADCK4_ENST00000450541.1_Intron|RNU6-195P_ENST00000411352.1_RNA	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	139						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			ATCCGCTCGGCATTGGCCTCC	0.562																																																0			19											70	64	66					19																	41211305		2203	4300	6503	45903145	SO:0001583	missense	79934			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.415G>A	19.37:g.41211305C>T	ENSP00000315118:p.Ala139Thr		45903145	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679466	0.68042	.	.	ENSG00000123815	ENST00000324464	D	0.81996	-1.56	4.72	4.72	0.59763	.	0.053759	0.64402	D	0.000001	D	0.86920	0.6049	M	0.74647	2.275	0.80722	D	1	P	0.49358	0.923	P	0.49597	0.616	D	0.89017	0.3432	10	0.66056	D	0.02	-6.821	16.4756	0.84131	0.0:1.0:0.0:0.0	.	139	Q96D53	ADCK4_HUMAN	T	139	ENSP00000315118:A139T	ENSP00000315118:A139T	A	-	1	0	ADCK4	45903145	1.000000	0.71417	0.407000	0.26434	0.777000	0.43975	7.468000	0.80943	2.167000	0.68274	0.561000	0.74099	GCC		0.562	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		T	41211305	C	T	41211305	3	4	439	1	0	0	0	0	1	0	0	0	290	710	25	2	1259	2	ADCK4	19	41211305	Missense_Mutation	SNP	C	TCGA-61-1913-01A-01W-0639-09	1239815	41211305	17917678	45	24345											
GYS1	2997	genome.wustl.edu	37	19	49496304	49496304	+	Silent	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:49496304G>A	ENST00000323798.3	-	1	262	c.66C>T	c.(64-66)ttC>ttT	p.F22F	RUVBL2_ENST00000601968.1_5'Flank|GYS1_ENST00000544287.1_Intron|RUVBL2_ENST00000413176.2_5'Flank|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Silent_p.F22F|GYS1_ENST00000541188.1_Missense_Mutation_p.S3L|GYS1_ENST00000540532.1_Missense_Mutation_p.S3L|RUVBL2_ENST00000595090.1_5'Flank	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	22					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCTCCAGGTCGAATTCATCCT	0.607											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											131	112	118					19																	49496304		2203	4300	6503	54188116	SO:0001819	synonymous_variant	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.66C>T	19.37:g.49496304G>A		962	54188116	Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450646	0.63290	.	.	ENSG00000104812	ENST00000541188;ENST00000540532;ENST00000457974	T;T	0.61742	0.08;1.78	5.13	1.64	0.23874	.	.	.	.	.	T	0.44329	0.1288	.	.	.	0.24931	N	0.991913	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	8	0.87932	D	0	-27.6246	6.4937	0.22130	0.1759:0.2349:0.5893:0.0	.	3	B7Z806	.	L	3	ENSP00000437922:S3L;ENSP00000445197:S3L	ENSP00000406810:S3L	S	-	2	0	GYS1	54188116	0.993000	0.37304	1.000000	0.80357	0.959000	0.62525	0.349000	0.20055	0.682000	0.31407	-0.254000	0.11334	TCG		0.607	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		A	49496304	G	A	49496304	2	1	439	1	0	0	0	0	0	0	0	1	6912	1049	37	1		1	GYS1	19	49496304	Silent	SNP	G	TCGA-61-1913-01A-01W-0639-09	8284999	49496304	9632679	46	24346											
MYH14	79784	genome.wustl.edu	37	19	50813046	50813046	+	Nonstop_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:50813046G>C	ENST00000596571.1	+	40	5987	c.5987G>C	c.(5986-5988)tGa>tCa	p.*1996S	MYH14_ENST00000376970.2_Nonstop_Mutation_p.*2029S|MYH14_ENST00000601313.1_Nonstop_Mutation_p.*2037S|MYH14_ENST00000598205.1_Nonstop_Mutation_p.*2004S|MYH14_ENST00000440075.2_Nonstop_Mutation_p.*2037S|MYH14_ENST00000262269.8_Nonstop_Mutation_p.*2037S|CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000425460.1_Nonstop_Mutation_p.*2004S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	0					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACCCCCAGTGACCCTACCCT	0.687																																																0			19											14	18	17					19																	50813046		1932	4108	6040	55504858	SO:0001578	stop_lost	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5987G>C	19.37:g.50813046G>C	ENSP00000472819:p.*1996Serext*?		55504858	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Nonstop_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	6.341	0.430960	0.12045	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	.	.	.	3.8	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5986	0.39589	0.1068:0.0:0.8932:0.0	.	.	.	.	S	2037;2029;2004;1780;2037	.	.	X	+	2	2	MYH14	55504858	1.000000	0.71417	0.992000	0.48379	0.207000	0.24258	1.179000	0.31993	0.966000	0.38159	-0.362000	0.07510	TGA		0.687	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		C	50813046	G	C	50813046	4	2	439	1	0	0	0	0	0	0	0	0	10033	1285	45	3	6276	3	MYH14	19	50813046	Nonstop_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	1316742	50813046	8315937	47	24347											
SBK2	646643	genome.wustl.edu	37	19	56047409	56047409	+	Splice_Site	SNP	C	C	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:56047409C>A	ENST00000413299.1	-	2	290	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C	SBK2_ENST00000344158.3_Splice_Site_p.G85C	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AGCCTCGTACCTTTCTGACGA	0.677																																																0			19											33	35	34					19																	56047409		1988	4145	6133	60739221	SO:0001630	splice_region_variant	0				CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.253+1G>T	19.37:g.56047409C>A			60739221		Missense_Mutation	SNP	ENST00000413299.1	37	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260077	0.80246	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.58797	0.31;0.31	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.90977	3.165	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.85199	0.1014	9	.	.	.	-25.8697	15.2974	0.73919	0.0:1.0:0.0:0.0	.	85	P0C263	SBK2_HUMAN	C	85	ENSP00000389015:G85C;ENSP00000345044:G85C	.	G	-	1	0	SBK2	60739221	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.896000	0.63222	2.277000	0.76020	0.462000	0.41574	GGC		0.677	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401	Missense_Mutation	A	56047409	C	A	56047409	5	1	439	1	0	0	0	0	0	0	1	0	13864	695	24	3	804	3	SBK2	19	56047409	Splice_Site	SNP	C	TCGA-61-1913-01A-01W-0639-09	5234363	56047409	3081574	48	24348											
ZNF417	147687	genome.wustl.edu	37	19	58420493	58420493	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:58420493A>G	ENST00000312026.5	-	3	1317	c.1153T>C	c.(1153-1155)Tgt>Cgt	p.C385R	ZNF417_ENST00000536263.1_Missense_Mutation_p.C186R|ZNF417_ENST00000595559.1_Missense_Mutation_p.C384R|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		GATTTTCCACATTCTCCACAC	0.438																																																0			19											179	166	170					19																	58420493		2203	4300	6503	63112305	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1153T>C	19.37:g.58420493A>G	ENSP00000311319:p.Cys385Arg		63112305	B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	15.21	2.766918	0.49574	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	D;D	0.85955	-2.05;-2.05	2.21	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94450	0.8214	H	0.99347	4.525	0.51233	D	0.999915	D;D	0.76494	0.98;0.999	P;D	0.83275	0.742;0.996	D	0.92205	0.5771	9	0.87932	D	0	.	6.4432	0.21861	0.854:0.0:0.146:0.0	.	385;385	F5H0M9;Q8TAU3	.;ZN417_HUMAN	R	385;186	ENSP00000311319:C385R;ENSP00000442760:C186R	ENSP00000311319:C385R	C	-	1	0	ZNF417	63112305	0.997000	0.39634	0.487000	0.27428	0.196000	0.23810	4.054000	0.57434	1.025000	0.39708	0.254000	0.18369	TGT		0.438	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		G	58420493	A	G	58420493	3	3	439	1	0	0	0	0	1	0	0	0	17894	217	8	4	578	4	ZNF417	19	58420493	Missense_Mutation	SNP	A	TCGA-61-1913-01A-01W-0639-09	2373084	58420493	708490	49	24349											
CST9L	128821	genome.wustl.edu	37	20	23548889	23548889	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr20:23548889C>A	ENST00000376979.3	-	1	497	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	67						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCTGTAGGCATAGTAGTCC	0.522																																																0			20											174	134	148					20																	23548889		2203	4300	6503	23496889	SO:0001583	missense	128821				CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"cystatin 9 (mouse)-like"			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.199G>T	20.37:g.23548889C>A	ENSP00000366178:p.Ala67Ser		23496889	B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499661	0.44455	.	.	ENSG00000101435	ENST00000376979	T	0.25085	1.82	1.75	1.75	0.24633	Proteinase inhibitor I25, cystatin (2);	0.000000	0.32231	N	0.006386	T	0.41119	0.1145	M	0.71871	2.18	0.09310	N	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.12578	-1.0542	10	0.22706	T	0.39	.	6.9689	0.24639	0.0:1.0:0.0:0.0	.	67	Q9H4G1	CST9L_HUMAN	S	67	ENSP00000366178:A67S	ENSP00000366178:A67S	A	-	1	0	CST9L	23496889	0.932000	0.31603	0.393000	0.26258	0.057000	0.15508	2.330000	0.43885	1.267000	0.44247	0.313000	0.20887	GCC		0.522	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		A	23548889	C	A	23548889	3	1	439	1	0	0	0	0	1	0	0	0	3980	710	25	3	256	3	CST9L	20	23548889	Missense_Mutation	SNP	C	TCGA-61-1913-01A-01W-0639-09		23548889	39476631	50	24350											
CD40	958	genome.wustl.edu	37	20	44756974	44756974	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr20:44756974G>T	ENST00000372285.3	+	8	724	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.G197V	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	218					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				tttAGAAAAGGTGGCCAAGAA	0.498									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			20											36	38	37					20																	44756974		2203	4300	6503	44190381	SO:0001583	missense	958	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"Tumor necrosis factor receptor superfamily", "CD molecules"	11919	protein-coding gene	gene with protein product		109535	"tumor necrosis factor receptor superfamily, member 5"	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.652G>T	20.37:g.44756974G>T	ENSP00000361359:p.Val218Leu	926	44190381	E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	CCDS13393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.768|3.768	-0.048317|-0.048317	0.07407|0.07407	.|.	.|.	ENSG00000101017|ENSG00000101017	ENST00000372276|ENST00000372285	T|T	0.80994|0.72835	-1.44|-0.69	4.85|4.85	2.79|2.79	0.32731|0.32731	.|.	.|973.656000	.|0.00166	.|N	.|0.000013	T|T	0.50888|0.50888	0.1642|0.1642	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999941|0.999941	D|B	0.61080|0.12630	0.989|0.006	D|B	0.63957|0.08055	0.92|0.003	T|T	0.44174|0.44174	-0.9345|-0.9345	8|9	0.87932|0.08837	D|T	0|0.75	-0.7797|-0.7797	6.9938|6.9938	0.24769|0.24769	0.219:0.0:0.781:0.0|0.219:0.0:0.781:0.0	.|.	197|218	P25942-2|P25942	.|TNR5_HUMAN	V|L	197|218	ENSP00000361350:G197V|ENSP00000361359:V218L	ENSP00000361350:G197V|ENSP00000361359:V218L	G|V	+|+	2|1	0|0	CD40|CD40	44190381|44190381	0.001000|0.001000	0.12720|0.12720	0.097000|0.097000	0.21041|0.21041	0.112000|0.112000	0.19704|0.19704	-0.189000|-0.189000	0.09629|0.09629	0.549000|0.549000	0.28973|0.28973	0.478000|0.478000	0.44815|0.44815	GGT|GTG		0.498	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		T	44756974	G	T	44756974	3	4	439	1	0	0	0	0	1	0	0	0	3015	1261	44	3	682	3	CD40	20	44756974	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09	21208085	44756974	18268546	51	24351											
ZNF645	158506	genome.wustl.edu	37	X	22291314	22291314	+	Missense_Mutation	SNP	G	G	C	rs571107659		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chrX:22291314G>C	ENST00000323684.1	+	1	250	c.206G>C	c.(205-207)cGa>cCa	p.R69P		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	69					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383																																																0			X											70	65	67					X																	22291314		2203	4300	6503	22201235	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.206G>C	X.37:g.22291314G>C	ENSP00000323348:p.Arg69Pro		22201235	A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973732	0.53720	.	.	ENSG00000175809	ENST00000323684	T	0.59772	0.24	3.23	0.391	0.16282	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	U	0.000001	T	0.47488	0.1448	M	0.72894	2.215	0.37174	D	0.903171	P	0.36125	0.538	B	0.32342	0.144	T	0.47086	-0.9144	10	0.87932	D	0	.	4.5768	0.12238	0.2382:0.1823:0.5795:0.0	.	69	Q8N7E2	ZN645_HUMAN	P	69	ENSP00000323348:R69P	ENSP00000323348:R69P	R	+	2	0	ZNF645	22201235	0.111000	0.22076	0.002000	0.10522	0.374000	0.29953	1.423000	0.34837	-0.026000	0.13895	0.436000	0.28706	CGA		0.383	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		C	22291314	G	C	22291314	3	2	439	1	0	0	0	0	1	0	0	0	18061	1058	37	3	208	3	ZNF645	23	22291314	Missense_Mutation	SNP	G	TCGA-61-1913-01A-01W-0639-09		22291314	132979246	52	24352											
LRCH2	57631	genome.wustl.edu	37	X	114414017	114414017	+	Silent	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chrX:114414017G>A	ENST00000317135.8	-	5	867	c.837C>T	c.(835-837)aaC>aaT	p.N279N	LRCH2_ENST00000538422.1_Silent_p.N279N	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	279										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						GCAATGGATTGTTATCCAAAA	0.308																																																0			X											32	26	28					X																	114414017		1765	3963	5728	114320273	SO:0001819	synonymous_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.837C>T	X.37:g.114414017G>A			114320273	F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	ENST00000317135.8	37	CCDS48155.1																																																																																				0.308	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		A	114414017	G	A	114414017	2	1	439	1	0	0	0	0	0	0	0	1	8933	1368	48	2		2	LRCH2	23	114414017	Silent	SNP	G	TCGA-61-1913-01A-01W-0639-09	92122703	114414017	40856543	53	24353											
PTCHD2	57540	genome.wustl.edu	37	1	11561473	11561473	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:11561473G>A	ENST00000294484.6	+	2	562	c.424G>A	c.(424-426)Gac>Aac	p.D142N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.D142N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	142					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGATTTGGCCGACTTCACCTC	0.637																																																0			1											31	33	32					1																	11561473		2022	4166	6188	11484060	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.424G>A	1.37:g.11561473G>A	ENSP00000294484:p.Asp142Asn		11484060	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266257	0.59540	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.59772	0.24;0.24	5.77	5.77	0.91146	.	0.157146	0.53938	D	0.000044	T	0.49508	0.1561	L	0.29908	0.895	0.45378	D	0.998367	B	0.23990	0.095	B	0.12837	0.008	T	0.45279	-0.9272	10	0.66056	D	0.02	-32.2065	18.9865	0.92773	0.0:0.0:1.0:0.0	.	142	Q9P2K9	PTHD2_HUMAN	N	142	ENSP00000294484:D142N;ENSP00000374226:D142N	ENSP00000294484:D142N	D	+	1	0	PTCHD2	11484060	1.000000	0.71417	0.963000	0.40424	0.893000	0.52053	5.285000	0.65633	2.724000	0.93272	0.561000	0.74099	GAC		0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		A	11561473	G	A	11561473	3	1	440	1	0	0	0	0	1	0	0	0	12736	1058	37	1	426	1	PTCHD2	1	11561473	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09		11561473	237689148	1	24354											
KIAA0319L	79932	genome.wustl.edu	37	1	35972212	35972212	+	Splice_Site	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:35972212C>A	ENST00000325722.3	-	3	901		c.e3+1			NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like							cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCATGCTTACCTCTGCAGAG	0.443																																																0			1											148	137	141					1																	35972212		2203	4300	6503	35744799	SO:0001630	splice_region_variant	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.666+1G>T	1.37:g.35972212C>A			35744799	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Splice_Site	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419847	0.62622	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000431916;ENST00000373258;ENST00000469892	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5403	0.76039	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0319L	35744799	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.075000	0.57584	2.798000	0.96311	0.655000	0.94253	.		0.443	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874	Intron	A	35972212	C	A	35972212	5	1	440	1	0	0	0	0	0	0	1	0	8169	521	18	3	2558	3	KIAA0319L	1	35972212	Splice_Site	SNP	C	TCGA-61-1914-01A-01W-0639-09	24410739	35972212	213278409	2	24355											
C1orf87	127795	genome.wustl.edu	37	1	60476083	60476083	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:60476083C>A	ENST00000371201.3	-	9	1280	c.1173G>T	c.(1171-1173)ttG>ttT	p.L391F	C1orf87_ENST00000450089.2_Missense_Mutation_p.L162F|C1orf87_ENST00000486478.1_5'Flank|C1orf87_ENST00000395552.1_5'Flank	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	391							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AATCAGATAACAAATCAGAAG	0.388																																					NSCLC(75;811 1386 4923 13371 51772)											0			1											127	126	126					1																	60476083		2203	4300	6503	60248671	SO:0001583	missense	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1173G>T	1.37:g.60476083C>A	ENSP00000360244:p.Leu391Phe		60248671	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	8.807	0.934368	0.18206	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.20332	2.08	4.86	-0.342	0.12635	.	0.459040	0.18474	N	0.140133	T	0.17280	0.0415	L	0.59436	1.845	0.09310	N	1	B	0.22683	0.073	B	0.25884	0.064	T	0.20042	-1.0287	10	0.52906	T	0.07	-1.7869	3.6192	0.08089	0.1676:0.462:0.0:0.3704	.	391	Q8N0U7	CA087_HUMAN	F	391;162	ENSP00000360244:L391F	ENSP00000360244:L391F	L	-	3	2	C1orf87	60248671	0.001000	0.12720	0.005000	0.12908	0.421000	0.31385	0.278000	0.18753	-0.129000	0.11620	0.650000	0.86243	TTG		0.388	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		A	60476083	C	A	60476083	3	1	440	1	0	0	0	0	1	0	0	0	2064	477	17	3	483	3	C1orf87	1	60476083	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	24503871	60476083	188774538	3	24356											
L1TD1	54596	genome.wustl.edu	37	1	62676583	62676583	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:62676583T>G	ENST00000498273.1	+	4	2432	c.2137T>G	c.(2137-2139)Tat>Gat	p.Y713D	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	713										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aaaggagagttatgagaatag	0.348																																																0			1											30	32	31					1																	62676583		1646	2925	4571	62449171	SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.2137T>G	1.37:g.62676583T>G	ENSP00000419901:p.Tyr713Asp		62449171	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	T	8.559	0.877337	0.17395	.	.	ENSG00000240563	ENST00000498273	T	0.12984	2.63	2.86	-3.2	0.05156	.	.	.	.	.	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.06405	0.002	T	0.36720	-0.9736	9	0.34782	T	0.22	.	1.8501	0.03167	0.256:0.4601:0.1294:0.1545	.	713	Q5T7N2	LITD1_HUMAN	D	713	ENSP00000419901:Y713D	ENSP00000419901:Y713D	Y	+	1	0	L1TD1	62449171	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.704000	0.05058	-0.571000	0.06014	-0.947000	0.02670	TAT		0.348	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		G	62676583	T	G	62676583	3	3	440	1	0	0	0	0	1	0	0	0	8589	1754	61	5	2143	5	L1TD1	1	62676583	Missense_Mutation	SNP	T	TCGA-61-1914-01A-01W-0639-09	2200500	62676583	186574038	4	24357											
L1TD1	54596	genome.wustl.edu	37	1	62676992	62676992	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:62676992A>G	ENST00000498273.1	+	4	2841	c.2546A>G	c.(2545-2547)tAt>tGt	p.Y849C	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	849										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tttagagattatgttttgcat	0.378																																																0			1											35	36	36					1																	62676992		2197	4297	6494	62449580	SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.2546A>G	1.37:g.62676992A>G	ENSP00000419901:p.Tyr849Cys		62449580	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	A	8.224	0.803065	0.16397	.	.	ENSG00000240563	ENST00000498273	T	0.21361	2.01	2.67	1.5	0.22942	.	.	.	.	.	T	0.28134	0.0694	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	D	0.74674	0.984	T	0.08827	-1.0703	9	0.87932	D	0	.	4.805	0.13316	0.2974:0.0:0.0:0.7026	.	849	Q5T7N2	LITD1_HUMAN	C	849	ENSP00000419901:Y849C	ENSP00000419901:Y849C	Y	+	2	0	L1TD1	62449580	0.010000	0.17322	0.005000	0.12908	0.094000	0.18550	0.336000	0.19823	0.444000	0.26612	0.254000	0.18369	TAT		0.378	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		G	62676992	A	G	62676992	3	3	440	1	0	0	0	0	1	0	0	0	8589	449	16	4	2552	4	L1TD1	1	62676992	Missense_Mutation	SNP	A	TCGA-61-1914-01A-01W-0639-09	409	62676992	186573629	5	24358											
F5	2153	genome.wustl.edu	37	1	169511801	169511801	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:169511801C>A	ENST00000367797.3	-	13	2728	c.2527G>T	c.(2527-2529)Gat>Tat	p.D843Y	F5_ENST00000367796.3_Missense_Mutation_p.D848Y	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	843	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCTGTGACATCTGGCTGTAGA	0.458																																																0			1											169	163	165					1																	169511801		2203	4300	6503	167778425	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2527G>T	1.37:g.169511801C>A	ENSP00000356771:p.Asp843Tyr		167778425	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999503	0.54147	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.21734	1.99;1.99	5.97	-0.935	0.10423	.	1.175370	0.05851	N	0.621279	T	0.04770	0.0129	L	0.39898	1.24	0.09310	N	1	B	0.30406	0.278	B	0.21360	0.034	T	0.39375	-0.9617	10	0.66056	D	0.02	-0.1212	2.003	0.03471	0.1242:0.3499:0.1217:0.4042	.	843	P12259	FA5_HUMAN	Y	843;848	ENSP00000356771:D843Y;ENSP00000356770:D848Y	ENSP00000356770:D848Y	D	-	1	0	F5	167778425	0.000000	0.05858	0.001000	0.08648	0.173000	0.22820	-0.196000	0.09532	-0.157000	0.11059	0.585000	0.79938	GAT		0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169511801	C	A	169511801	3	1	440	1	0	0	0	0	1	0	0	0	5348	913	32	3	4199	3	F5	1	169511801	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	106834809	169511801	79738820	6	24359											
TNR	7143	genome.wustl.edu	37	1	175292508	175292508	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:175292508C>G	ENST00000367674.2	-	23	4770	c.4062G>C	c.(4060-4062)caG>caC	p.Q1354H	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.Q1354H			Q92752	TENR_HUMAN	tenascin R	1354					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTGTAAGGACTGCCGTTTTC	0.468																																																0			1											145	131	136					1																	175292508		2203	4300	6503	173559131	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.4062G>C	1.37:g.175292508C>G	ENSP00000356646:p.Gln1354His		173559131	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267469	0.23136	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.26223	1.75;1.75	5.37	3.48	0.39840	.	0.064020	0.64402	D	0.000010	T	0.17577	0.0422	N	0.22421	0.69	0.23776	N	0.996873	B	0.10296	0.003	B	0.04013	0.001	T	0.20042	-1.0287	10	0.87932	D	0	.	10.7215	0.46042	0.0:0.8417:0.0:0.1583	.	1354	Q92752	TENR_HUMAN	H	1354;1354;1264	ENSP00000356646:Q1354H;ENSP00000263525:Q1354H	ENSP00000263525:Q1354H	Q	-	3	2	TNR	173559131	1.000000	0.71417	0.997000	0.53966	0.200000	0.23975	1.651000	0.37302	0.626000	0.30322	0.561000	0.74099	CAG		0.468	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		G	175292508	C	G	175292508	3	3	440	1	0	0	0	0	1	0	0	0	16338	564	20	3	18	3	TNR	1	175292508	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	5780707	175292508	73958113	7	24360											
NMNAT2	23057	genome.wustl.edu	37	1	183253881	183253881	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:183253881A>G	ENST00000287713.6	-	6	827	c.493T>C	c.(493-495)Tgt>Cgt	p.C165R	NMNAT2_ENST00000294868.4_Missense_Mutation_p.C160R|NMNAT2_ENST00000473046.1_5'UTR	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	165					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GGGCGGACACAGCAGATCCGG	0.537																																																0			1											56	58	58					1																	183253881		2203	4300	6503	181520504	SO:0001583	missense	23057			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.493T>C	1.37:g.183253881A>G	ENSP00000287713:p.Cys165Arg		181520504	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	ENST00000287713.6	37	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802023	0.50315	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.98028	-4.67;-4.58	5.32	4.18	0.49190	Cytidylyltransferase (1);	0.105820	0.64402	D	0.000003	D	0.97514	0.9186	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.994	D;P;P	0.77004	0.989;0.829;0.808	D	0.95643	0.8700	10	0.21014	T	0.42	-6.5026	12.1299	0.53936	0.8564:0.1435:0.0:0.0	.	165;165;160	A8K5S5;Q9BZQ4;Q9BZQ4-2	.;NMNA2_HUMAN;.	R	165;160	ENSP00000287713:C165R;ENSP00000294868:C160R	ENSP00000287713:C165R	C	-	1	0	NMNAT2	181520504	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.375000	0.90135	0.849000	0.35215	0.459000	0.35465	TGT		0.537	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			G	183253881	A	G	183253881	3	3	440	1	0	0	0	0	1	0	0	0	10499	188	7	4	454	4	NMNAT2	1	183253881	Missense_Mutation	SNP	A	TCGA-61-1914-01A-01W-0639-09	7961373	183253881	65996740	8	24361											
TROVE2	6738	genome.wustl.edu	37	1	193038630	193038630	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:193038630G>A	ENST00000367446.3	+	2	656	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.R149Q|TROVE2_ENST00000367445.3_Missense_Mutation_p.R149Q|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.R149Q|TROVE2_ENST00000367444.3_Missense_Mutation_p.R149Q|TROVE2_ENST00000400968.2_Missense_Mutation_p.R149Q|TROVE2_ENST00000432079.1_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	149	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CGTGCCCTCCGGAAGGCTATA	0.448																																																0			1											96	92	93					1																	193038630		1939	4141	6080	191305253	SO:0001583	missense	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.446G>A	1.37:g.193038630G>A	ENSP00000356416:p.Arg149Gln		191305253	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246553	0.95305	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.75	5.75	0.90469	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.968;0.968;0.956;0.999	T	0.43972	-0.9358	10	0.41790	T	0.15	-3.3768	19.9522	0.97203	0.0:0.0:1.0:0.0	.	149;149;149;149	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	Q	149;149;149;149;149;149;90	ENSP00000383752:R149Q;ENSP00000356416:R149Q;ENSP00000356413:R149Q;ENSP00000356415:R149Q;ENSP00000356414:R149Q;ENSP00000356411:R149Q;ENSP00000424612:R90Q	ENSP00000356411:R149Q	R	+	2	0	TROVE2	191305253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.272000	0.95707	2.725000	0.93324	0.655000	0.94253	CGG		0.448	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		A	193038630	G	A	193038630	3	1	440	1	0	0	0	0	1	0	0	0	16576	1116	39	1	448	1	TROVE2	1	193038630	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	9784749	193038630	56211991	9	24362											
IPO9	55705	genome.wustl.edu	37	1	201842038	201842038	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:201842038G>T	ENST00000361565.4	+	20	2728	c.2659G>T	c.(2659-2661)Gag>Tag	p.E887*		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	887					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GAAGGGAGAGGAGATCTACAG	0.532																																																0			1											105	96	99					1																	201842038		2203	4300	6503	200108661	SO:0001587	stop_gained	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2659G>T	1.37:g.201842038G>T	ENSP00000354742:p.Glu887*		200108661	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Nonsense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	40	8.253709	0.98727	.	.	ENSG00000198700	ENST00000361565	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-13.9111	16.6861	0.85306	0.0:0.0:1.0:0.0	.	.	.	.	X	887	.	ENSP00000354742:E887X	E	+	1	0	IPO9	200108661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.605000	0.88082	0.655000	0.94253	GAG		0.532	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		T	201842038	G	T	201842038	4	4	440	1	0	0	0	0	0	1	0	0	7799	1175	41	3	2737	3	IPO9	1	201842038	Nonsense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	8803408	201842038	47408583	10	24363											
IRF2BP2	359948	genome.wustl.edu	37	1	234743405	234743405	+	Silent	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:234743405C>T	ENST00000366609.3	-	2	1272	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Silent_p.P398P|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCGCTTCAGGCGGTGTGGTCC	0.582																																																0			1											92	98	96					1																	234743405		2203	4300	6503	232810028	SO:0001819	synonymous_variant	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1242G>A	1.37:g.234743405C>T			232810028	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	CCDS1602.1																																																																																				0.582	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		T	234743405	C	T	234743405	2	4	440	1	0	0	0	0	0	0	0	1	7830	755	27	1		1	IRF2BP2	1	234743405	Silent	SNP	C	TCGA-61-1914-01A-01W-0639-09	32901367	234743405	14507216	11	24364											
C1orf101	257044	genome.wustl.edu	37	1	244747184	244747184	+	Silent	SNP	T	T	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr1:244747184T>G	ENST00000366534.4	+	13	2082	c.2028T>G	c.(2026-2028)ctT>ctG	p.L676L	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.L676L|C1orf101_ENST00000366531.3_Silent_p.L525L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	676						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACACGGGTCTTGTGCTGGTTC	0.428																																																0			1											94	76	82					1																	244747184		2203	4300	6503	242813807	SO:0001819	synonymous_variant	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2028T>G	1.37:g.244747184T>G			242813807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	CCDS44340.1																																																																																				0.428	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		G	244747184	T	G	244747184	2	3	440	1	0	0	0	0	0	0	0	1	1976	1799	63	5		5	C1orf101	1	244747184	Silent	SNP	T	TCGA-61-1914-01A-01W-0639-09	10003779	244747184	4503437	12	24365											
USP34	9736	genome.wustl.edu	37	2	61633157	61633157	+	Nonsense_Mutation	SNP	G	G	A	rs372597990		TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr2:61633157G>A	ENST00000398571.2	-	3	314	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	80					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTACAAAGCTGGTCCCGGAGC	0.378																																																0			2											143	128	132					2																	61633157		1869	4113	5982	61486661	SO:0001587	stop_gained	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.238C>T	2.37:g.61633157G>A	ENSP00000381577:p.Gln80*		61486661	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625825	0.96671	.	.	ENSG00000115464	ENST00000398571	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000381577:Q80X	Q	-	1	0	USP34	61486661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.350000	0.79385	2.885000	0.99019	0.655000	0.94253	CAG		0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61633157	G	A	61633157	4	1	440	1	0	0	0	0	0	1	0	0	17065	1357	47	2	10714	2	USP34	2	61633157	Nonsense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09		61633157	181566216	13	24366											
DNAH6	1768	genome.wustl.edu	37	2	84800678	84800678	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr2:84800678C>A	ENST00000237449.6	+	11	1899	c.1891C>A	c.(1891-1893)Ctt>Att	p.L631I	DNAH6_ENST00000398278.2_Missense_Mutation_p.L631I|DNAH6_ENST00000389394.3_Missense_Mutation_p.L631I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	631	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAATGAAAGTCTTGATTTACA	0.343																																																0			2											96	105	102					2																	84800678		2203	4300	6503	84654189	SO:0001583	missense	284944			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1891C>A	2.37:g.84800678C>A	ENSP00000237449:p.Leu631Ile		84654189	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093227	0.36952	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24350	1.86;1.98;1.86	4.95	4.95	0.65309	.	0.000000	0.43919	D	0.000501	T	0.28962	0.0719	L	0.58101	1.795	0.27645	N	0.947595	B;P	0.51537	0.052;0.946	B;P	0.46253	0.05;0.509	T	0.17561	-1.0365	10	0.31617	T	0.26	.	10.5983	0.45352	0.0:0.9094:0.0:0.0906	.	631;210	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	I	631	ENSP00000374045:L631I;ENSP00000381326:L631I;ENSP00000237449:L631I	ENSP00000237449:L631I	L	+	1	0	DNAH6	84654189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.082000	0.41605	2.272000	0.75746	0.491000	0.48974	CTT		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		A	84800678	C	A	84800678	3	1	440	1	0	0	0	0	1	0	0	0	4605	913	32	3	1933	3	DNAH6	2	84800678	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	23167521	84800678	158398695	14	24367											
TBC1D8	11138	genome.wustl.edu	37	2	101652492	101652492	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr2:101652492G>T	ENST00000376840.4	-	9	1545	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I	TBC1D8_ENST00000409318.1_Missense_Mutation_p.L531I			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	516	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GAGAAGAGAAGCCAGAGTCTC	0.512																																																0			2											89	93	92					2																	101652492		2017	4184	6201	101018924	SO:0001583	missense	11138			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1546C>A	2.37:g.101652492G>T	ENSP00000366036:p.Leu516Ile		101018924	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.152883	0.38021	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.11712	2.75;2.75	5.0	5.0	0.66597	Rab-GAP/TBC domain (4);	0.000000	0.52532	D	0.000063	T	0.29783	0.0744	M	0.77103	2.36	0.49582	D	0.999802	P;P	0.40660	0.726;0.484	P;B	0.51297	0.665;0.381	T	0.02075	-1.1218	10	0.56958	D	0.05	-27.6616	18.6504	0.91429	0.0:0.0:1.0:0.0	.	531;516	B7Z6L4;O95759	.;TBCD8_HUMAN	I	516;531	ENSP00000366036:L516I;ENSP00000386856:L531I	ENSP00000366036:L516I	L	-	1	0	TBC1D8	101018924	1.000000	0.71417	0.996000	0.52242	0.071000	0.16799	4.401000	0.59716	2.462000	0.83206	0.655000	0.94253	CTT		0.512	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		T	101652492	G	T	101652492	3	4	440	1	0	0	0	0	1	0	0	0	15625	971	34	3	1924	3	TBC1D8	2	101652492	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	16851814	101652492	141546881	15	24368											
GPR148	344561	genome.wustl.edu	37	2	131487271	131487271	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr2:131487271C>G	ENST00000309926.4	+	1	629	c.547C>G	c.(547-549)Ctt>Gtt	p.L183V		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCCCACATTCCTTATTTGGCT	0.597																																																0			2											69	66	67					2																	131487271		2203	4300	6503	131203741	SO:0001583	missense	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.547C>G	2.37:g.131487271C>G	ENSP00000308908:p.Leu183Val		131203741	Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	5.242	0.230071	0.09969	.	.	ENSG00000173302	ENST00000309926	T	0.37752	1.18	2.86	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	U	0.000206	T	0.24044	0.0582	N	0.08118	0	0.09310	N	1	P	0.38551	0.636	P	0.47827	0.558	T	0.12400	-1.0549	10	0.32370	T	0.25	-9.6221	7.7295	0.28779	0.4483:0.5517:0.0:0.0	.	183	Q8TDV2	GP148_HUMAN	V	183	ENSP00000308908:L183V	ENSP00000308908:L183V	L	+	1	0	GPR148	131203741	0.007000	0.16637	0.055000	0.19348	0.032000	0.12392	0.246000	0.18160	0.456000	0.26937	0.462000	0.41574	CTT		0.597	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		G	131487271	C	G	131487271	3	3	440	1	0	0	0	0	1	0	0	0	6653	681	24	3	549	3	GPR148	2	131487271	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	29834779	131487271	111712102	16	24369											
ATIC	471	genome.wustl.edu	37	2	216200784	216200784	+	Silent	SNP	A	A	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr2:216200784A>G	ENST00000236959.9	+	11	1361	c.1035A>G	c.(1033-1035)ggA>ggG	p.G345G	ATIC_ENST00000435675.1_Silent_p.G344G|ATIC_ENST00000540518.1_Silent_p.G286G	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	345					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TTGCCCCAGGATATGAAGAAG	0.318			T	ALK	ALCL																																		Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0			2											102	105	104					2																	216200784		2203	4300	6503	215909029	SO:0001819	synonymous_variant	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1035A>G	2.37:g.216200784A>G			215909029	A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368401	0.24771	.	.	ENSG00000138363	ENST00000446622;ENST00000426233	.	.	.	5.61	-1.15	0.09709	.	.	.	.	.	T	0.50973	0.1647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41627	-0.9498	4	.	.	.	-18.9346	6.1477	0.20294	0.3716:0.3611:0.2673:0.0	.	.	.	.	V	39;14	.	.	I	+	1	0	ATIC	215909029	0.734000	0.28142	0.998000	0.56505	0.998000	0.95712	-0.116000	0.10724	-0.108000	0.12066	0.533000	0.62120	ATA		0.318	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		G	216200784	A	G	216200784	2	3	440	1	0	0	0	0	0	0	0	1	1105	320	12	4		4	ATIC	2	216200784	Silent	SNP	A	TCGA-61-1914-01A-01W-0639-09	84713513	216200784	26998589	17	24370											
LRIG1	26018	genome.wustl.edu	37	3	66431106	66431106	+	Missense_Mutation	SNP	C	C	A	rs375774171		TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr3:66431106C>A	ENST00000273261.3	-	18	3474	c.2950G>T	c.(2950-2952)Gcc>Tcc	p.A984S	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A961S|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	984					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GACCCAGCGGCAGTCCTGCTG	0.597																																																0			3											96	101	99					3																	66431106		2203	4300	6503	66513796	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2950G>T	3.37:g.66431106C>A	ENSP00000273261:p.Ala984Ser		66513796	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	6.071	0.381347	0.11466	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.63913	-0.07;-0.05	5.64	-3.43	0.04810	.	2.258740	0.01906	N	0.039501	T	0.37073	0.0990	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12013	0.004;0.005;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.25328	-1.0135	10	0.05959	T	0.93	.	1.8218	0.03112	0.1883:0.4015:0.2098:0.2004	.	961;984;984	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	S	984;961;887	ENSP00000273261:A984S;ENSP00000373208:A961S	ENSP00000273261:A984S	A	-	1	0	LRIG1	66513796	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.413000	0.07123	-0.501000	0.06605	0.650000	0.86243	GCC		0.597	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		A	66431106	C	A	66431106	3	1	440	1	0	0	0	0	1	0	0	0	8944	710	25	3	339	3	LRIG1	3	66431106	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09		66431106	131591324	18	24371											
SENP7	57337	genome.wustl.edu	37	3	101177799	101177799	+	Splice_Site	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr3:101177799C>T	ENST00000394095.2	-	4	337	c.284G>A	c.(283-285)aGg>aAg	p.R95K	SENP7_ENST00000314261.7_Splice_Site_p.R95K|SENP7_ENST00000348610.3_Splice_Site_p.R62K|SENP7_ENST00000394094.2_Splice_Site_p.R95K|Y_RNA_ENST00000364684.1_RNA|SENP7_ENST00000358203.3_Splice_Site_p.R62K|SENP7_ENST00000394091.1_Splice_Site_p.R62K	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	95						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CATATCTTACCTTTCTGGTGA	0.368																																																0			3											229	215	220					3																	101177799		2203	4300	6503	102660489	SO:0001630	splice_region_variant	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.284+1G>A	3.37:g.101177799C>T			102660489	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907036	0.72868	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.55930	1.29;0.49;0.8;1.21;1.21;1.32	4.64	4.64	0.57946	.	0.599257	0.15845	N	0.241814	T	0.57844	0.2081	N	0.24115	0.695	0.24078	N	0.995954	P;D;D;D	0.89917	0.935;1.0;0.998;0.999	B;D;D;D	0.83275	0.435;0.996;0.99;0.991	T	0.49390	-0.8945	9	.	.	.	-9.407	12.8935	0.58084	0.0:1.0:0.0:0.0	.	62;95;62;95	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	K	95;95;95;62;62;62	ENSP00000377655:R95K;ENSP00000377654:R95K;ENSP00000313624:R95K;ENSP00000377651:R62K;ENSP00000350936:R62K;ENSP00000342159:R62K	.	R	-	2	0	SENP7	102660489	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.296000	0.51802	2.399000	0.81585	0.655000	0.94253	AGG		0.368	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	Missense_Mutation	T	101177799	C	T	101177799	5	4	440	1	0	0	0	0	0	0	1	0	14054	695	24	2	2952	2	SENP7	3	101177799	Splice_Site	SNP	C	TCGA-61-1914-01A-01W-0639-09	34746693	101177799	96844631	19	24372											
PARP9	83666	genome.wustl.edu	37	3	122247249	122247249	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr3:122247249G>A	ENST00000360356.2	-	11	2754	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	PARP9_ENST00000477522.2_Missense_Mutation_p.P808S|PARP9_ENST00000471785.1_Missense_Mutation_p.P808S|PARP9_ENST00000492382.1_Missense_Mutation_p.P388S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	843	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCCCTCCAAGGATGCTGTGCA	0.458																																																0			3											131	117	122					3																	122247249		2203	4300	6503	123729939	SO:0001583	missense	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2527C>T	3.37:g.122247249G>A	ENSP00000353512:p.Pro843Ser		123729939	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	0.278	-0.988535	0.02162	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457	T;T;T;T	0.08896	3.37;3.04;3.23;3.23	4.79	-2.23	0.06930	Poly(ADP-ribose) polymerase, catalytic domain (1);	1.412040	0.04466	N	0.375247	T	0.02012	0.0063	N	0.01267	-0.92	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.15484	0.006;0.007;0.013	T	0.35475	-0.9787	10	0.02654	T	1	.	1.1007	0.01683	0.2676:0.2753:0.3165:0.1407	.	843;388;808	Q8IXQ6;G5E9U8;Q8IXQ6-2	PARP9_HUMAN;.;.	S	843;388;808;808;766	ENSP00000353512:P843S;ENSP00000417664:P388S;ENSP00000419506:P808S;ENSP00000419001:P808S	ENSP00000353512:P843S	P	-	1	0	PARP9	123729939	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.843000	0.04350	-0.563000	0.06078	0.655000	0.94253	CCT		0.458	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		A	122247249	G	A	122247249	3	1	440	1	0	0	0	0	1	0	0	0	11466	1174	41	2	41	2	PARP9	3	122247249	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	21069450	122247249	75775181	20	24373											
COL6A6	131873	genome.wustl.edu	37	3	130290150	130290150	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr3:130290150G>A	ENST00000358511.6	+	6	2921	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D964N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	964	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGATCAAGCGACAAGTACTT	0.502																																																0			3											48	46	47					3																	130290150		1968	4160	6128	131772840	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2890G>A	3.37:g.130290150G>A	ENSP00000351310:p.Asp964Asn		131772840	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665569	0.47677	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78126	-1.15;-1.15	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.197907	0.35378	N	0.003253	T	0.81226	0.4778	L	0.45051	1.395	0.33048	D	0.53237	D	0.76494	0.999	D	0.66979	0.948	T	0.81852	-0.0742	10	0.25106	T	0.35	.	12.7395	0.57243	0.0828:0.0:0.9171:0.0	.	964	A6NMZ7	CO6A6_HUMAN	N	964	ENSP00000351310:D964N;ENSP00000399236:D964N	ENSP00000351310:D964N	D	+	1	0	COL6A6	131772840	0.998000	0.40836	0.937000	0.37676	0.833000	0.47200	3.424000	0.52764	2.403000	0.81681	0.561000	0.74099	GAC		0.502	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130290150	G	A	130290150	3	1	440	1	0	0	0	0	1	0	0	0	3703	1058	37	1	2912	1	COL6A6	3	130290150	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	8042901	130290150	67732280	21	24374											
NUDT16	131870	genome.wustl.edu	37	3	131102092	131102092	+	Silent	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr3:131102092C>T	ENST00000521288.1	+	3	526	c.495C>T	c.(493-495)ggC>ggT	p.G165G	NUDT16_ENST00000537561.1_Silent_p.G119G|NUDT16_ENST00000359850.3_Silent_p.G132G|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000502852.1_3'UTR			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	165	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						CCTTTATTGGCTCTGCGCGGG	0.557																																																0			3											123	109	114					3																	131102092		2203	4300	6503	132584782	SO:0001819	synonymous_variant	0			AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"Nudix motif containing"	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.495C>T	3.37:g.131102092C>T			132584782	B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	ENST00000521288.1	37	CCDS3070.2																																																																																				0.557	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		T	131102092	C	T	131102092	2	4	440	1	0	0	0	0	0	0	0	1	10732	784	28	2		2	NUDT16	3	131102092	Silent	SNP	C	TCGA-61-1914-01A-01W-0639-09	811942	131102092	66920338	22	24375											
CEP70	80321	genome.wustl.edu	37	3	138227333	138227333	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr3:138227333T>G	ENST00000264982.3	-	12	1264	c.998A>C	c.(997-999)gAg>gCg	p.E333A	CEP70_ENST00000481834.1_Missense_Mutation_p.E333A|CEP70_ENST00000484888.1_Missense_Mutation_p.E333A|CEP70_ENST00000542237.1_Missense_Mutation_p.E313A|CEP70_ENST00000489254.1_Missense_Mutation_p.E181A	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	333					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTGCTGGGCTCATCTTTCTT	0.348																																																0			3											246	252	250					3																	138227333		2203	4300	6503	139710023	SO:0001583	missense	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.998A>C	3.37:g.138227333T>G	ENSP00000264982:p.Glu333Ala		139710023	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.263046	0.39995	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	T;T;T;T;T;T	0.48836	1.38;1.39;0.8;1.38;1.38;1.37	5.24	4.05	0.47172	.	0.360490	0.29861	N	0.011010	T	0.43389	0.1245	L	0.60455	1.87	0.26704	N	0.971117	P;P;B;P	0.40731	0.728;0.59;0.063;0.59	B;B;B;B	0.43445	0.42;0.35;0.02;0.35	T	0.24190	-1.0167	10	0.15952	T	0.53	-1.4412	8.1529	0.31152	0.1783:0.0:0.0:0.8217	.	181;313;333;333	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	A	333;313;181;333;315;333	ENSP00000264982:E333A;ENSP00000444128:E313A;ENSP00000417821:E181A;ENSP00000419231:E333A;ENSP00000419833:E315A;ENSP00000417465:E333A	ENSP00000264982:E333A	E	-	2	0	CEP70	139710023	0.970000	0.33590	0.216000	0.23742	0.889000	0.51656	2.057000	0.41365	0.961000	0.38030	0.533000	0.62120	GAG		0.348	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		G	138227333	T	G	138227333	3	3	440	1	0	0	0	0	1	0	0	0	3259	1551	54	5	823	5	CEP70	3	138227333	Missense_Mutation	SNP	T	TCGA-61-1914-01A-01W-0639-09	7125241	138227333	59795097	23	24376											
PLCH1	23007	genome.wustl.edu	37	3	155271943	155271943	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr3:155271943T>C	ENST00000340059.7	-	8	1075	c.1076A>G	c.(1075-1077)cAt>cGt	p.H359R	PLCH1_ENST00000447496.2_Missense_Mutation_p.H359R|PLCH1_ENST00000460012.1_Missense_Mutation_p.H341R|PLCH1_ENST00000414191.1_Missense_Mutation_p.H341R|PLCH1_ENST00000334686.6_Missense_Mutation_p.H341R|PLCH1_ENST00000494598.1_Missense_Mutation_p.H359R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	359	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTGTAACCATGATGTACTAC	0.403																																																0			3											143	130	135					3																	155271943		2203	4300	6503	156754637	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1076A>G	3.37:g.155271943T>C	ENSP00000345988:p.His359Arg		156754637	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377315	0.82682	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.75	5.75	0.90469	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	H	0.95365	3.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93161	0.6558	10	0.87932	D	0	.	16.0681	0.80903	0.0:0.0:0.0:1.0	.	341;359;359	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	R	359;341;359;359;341;341	ENSP00000419100:H359R;ENSP00000417502:H341R;ENSP00000402759:H359R;ENSP00000345988:H359R;ENSP00000335469:H341R;ENSP00000412977:H341R	ENSP00000335469:H341R	H	-	2	0	PLCH1	156754637	1.000000	0.71417	0.958000	0.39756	0.897000	0.52465	7.878000	0.87231	2.188000	0.69820	0.528000	0.53228	CAT		0.403	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		C	155271943	T	C	155271943	3	2	440	1	0	0	0	0	1	0	0	0	12037	1464	51	4	4084	4	PLCH1	3	155271943	Missense_Mutation	SNP	T	TCGA-61-1914-01A-01W-0639-09	17044610	155271943	42750487	24	24377											
OSTalpha	200931	genome.wustl.edu	37	3	195954558	195954580	+	Frame_Shift_Del	DEL	TGGTCTCTGGATCCCTCGTTCCC	TGGTCTCTGGATCCCTCGTTCCC	-	rs371651472|rs144779175		TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	TGGTCTCTGGATCCCTCGTTCCC	TGGTCTCTGGATCCCTCGTTCCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr3:195954558_195954580delTGGTCTCTGGATCCCTCGTTCCC	ENST00000296327.5	+	4	521_543	c.312_334delTGGTCTCTGGATCCCTCGTTCCC	c.(310-336)tttggtctctggatccctcgttccctgfs	p.GLWIPRSL105fs		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	105					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.I108I(1)|p.W107*(1)|p.R110H(1)								Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGTGCTGCTTTGGTCTCTGGATCCCTCGTTCCCTGGTGCTGGT	0.641																																																3	Substitution - Nonsense(1)|Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)|kidney(1)	3																																								197438977	SO:0001589	frameshift_variant	200931				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.312_334delTGGTCTCTGGATCCCTCGTTCCC	3.37:g.195954558_195954580delTGGTCTCTGGATCCCTCGTTCCC	ENSP00000296327:p.Gly105fs		197438955	Q6ZMC7	Frame_Shift_Del	DEL	ENST00000296327.5	37	CCDS3314.1																																																																																				0.641	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		-	195954580	TGGTCTCTGGATCCCTCGTTCCC	-	195954558	7	5	440	1	0	1	0	1	0	0	0	0	11300	1809	63	0	326	0	OSTalpha	3	195954558	Frame_Shift_Del	DEL	TGGTCTCTGGATCCCTCGTTCCC	TCGA-61-1914-01A-01W-0639-09	40682615	195954558	2067872	25	24378											
NAA11	84779	genome.wustl.edu	37	4	80246487	80246487	+	Missense_Mutation	SNP	C	C	T	rs529712269		TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr4:80246487C>T	ENST00000286794.4	-	1	717	c.545G>A	c.(544-546)gGc>gAc	p.G182D	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	182					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AAGTGTGCTGCCCTGGGTCTC	0.557													C|||	1	0.000199681	0	0	5008	,	,		19716	0		0	False		,,,				2504	0.001															0			4											53	54	54					4																	80246487		1953	4147	6100	80465511	SO:0001583	missense	84779				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.545G>A	4.37:g.80246487C>T	ENSP00000286794:p.Gly182Asp		80465511	Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458200	0.26161	.	.	ENSG00000156269	ENST00000286794	T	0.56776	0.44	4.97	2.3	0.28687	.	0.505914	0.19557	N	0.111437	T	0.26085	0.0636	N	0.03608	-0.345	0.09310	N	1	B	0.17268	0.021	B	0.12156	0.007	T	0.16600	-1.0397	10	0.30854	T	0.27	-6.7378	8.8622	0.35265	0.0:0.7491:0.0:0.2509	.	182	Q9BSU3	NAA11_HUMAN	D	182	ENSP00000286794:G182D	ENSP00000286794:G182D	G	-	2	0	NAA11	80465511	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.223000	0.09177	0.372000	0.24591	0.655000	0.94253	GGC		0.557	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			T	80246487	C	T	80246487	3	4	440	1	0	0	0	0	1	0	0	0	10117	739	26	2	148	2	NAA11	4	80246487	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09		80246487	110907789	26	24379											
ANK2	287	genome.wustl.edu	37	4	114253132	114253132	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr4:114253132C>T	ENST00000357077.4	+	28	3183	c.3130C>T	c.(3130-3132)Ctt>Ttt	p.L1044F	ANK2_ENST00000506722.1_Missense_Mutation_p.L1035F|ANK2_ENST00000394537.3_Missense_Mutation_p.L1044F|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1044	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTCAGTAAACTTCACCTGCC	0.517																																																0			4											128	139	135					4																	114253132		2203	4300	6503	114472581	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3130C>T	4.37:g.114253132C>T	ENSP00000349588:p.Leu1044Phe		114472581	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294334	0.60086	.	.	ENSG00000145362	ENST00000503271;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000343056	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.62	4.78	0.61160	.	0.658399	0.11693	N	0.538689	T	0.41003	0.1140	N	0.08118	0	0.80722	D	1	B;D;B;B	0.64830	0.419;0.994;0.419;0.137	B;P;B;B	0.57101	0.16;0.813;0.16;0.068	T	0.43048	-0.9415	10	0.59425	D	0.04	.	14.2715	0.66154	0.0:0.9287:0.0:0.0713	.	1044;1044;1035;1035	Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;.;.;.	F	1023;1035;1059;1044;1044;1035	ENSP00000423799:L1023F;ENSP00000421067:L1035F;ENSP00000424722:L1059F;ENSP00000378044:L1044F;ENSP00000349588:L1044F	ENSP00000340561:L1035F	L	+	1	0	ANK2	114472581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.375000	0.46248	0.655000	0.94253	CTT		0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114253132	C	T	114253132	3	4	440	1	0	0	0	0	1	0	0	0	621	565	20	2	3305	2	ANK2	4	114253132	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	34006645	114253132	76901144	27	24380											
DNAH5	1767	genome.wustl.edu	37	5	13923470	13923470	+	Silent	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr5:13923470G>A	ENST00000265104.4	-	4	461	c.357C>T	c.(355-357)aaC>aaT	p.N119N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	119	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGCCACATCGTTTCCCTCGG	0.453									Kartagener syndrome																																							0			5											209	197	201					5																	13923470		2203	4300	6503	13976470	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.357C>T	5.37:g.13923470G>A			13976470	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13923470	G	A	13923470	2	1	440	1	0	0	0	0	0	0	0	1	4604	1136	40	1		1	DNAH5	5	13923470	Silent	SNP	G	TCGA-61-1914-01A-01W-0639-09		13923470	166991790	28	24381											
TRIO	7204	genome.wustl.edu	37	5	14369614	14369614	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr5:14369614G>C	ENST00000344204.4	+	18	3222	c.3198G>C	c.(3196-3198)caG>caC	p.Q1066H	TRIO_ENST00000509967.2_Missense_Mutation_p.Q1017H|TRIO_ENST00000537187.1_Missense_Mutation_p.Q1066H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1066					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCTGGAGCAGAAGGAGGCAT	0.607																																																0			5											92	86	88					5																	14369614		2203	4300	6503	14422614	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3198G>C	5.37:g.14369614G>C	ENSP00000339299:p.Gln1066His		14422614	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390848	0.42410	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.44482	0.92;0.92;0.92	5.83	-6.01	0.02199	.	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	M	0.78637	2.42	0.48236	D	0.999615	D;D;D	0.76494	0.991;0.999;0.996	D;D;D	0.75484	0.937;0.972;0.986	T	0.67296	-0.5706	10	0.66056	D	0.02	.	15.4702	0.75434	0.6146:0.0:0.3854:0.0	.	1017;1066;1066	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	H	1066;1066;1017;753	ENSP00000339299:Q1066H;ENSP00000446348:Q1066H;ENSP00000445592:Q1017H	ENSP00000339299:Q1066H	Q	+	3	2	TRIO	14422614	0.996000	0.38824	0.543000	0.28128	0.617000	0.37484	0.396000	0.20867	-1.044000	0.03254	-0.253000	0.11424	CAG		0.607	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		C	14369614	G	C	14369614	3	2	440	1	0	0	0	0	1	0	0	0	16552	933	33	3	3268	3	TRIO	5	14369614	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	446144	14369614	166545646	29	24382											
C5orf42	65250	genome.wustl.edu	37	5	37183676	37183676	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr5:37183676G>T	ENST00000508244.1	-	25	4700	c.4607C>A	c.(4606-4608)cCt>cAt	p.P1536H	C5orf42_ENST00000425232.2_Missense_Mutation_p.P1536H|C5orf42_ENST00000274258.7_Missense_Mutation_p.P417H			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1536						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACCTATTACAGGAAGTGTATT	0.308																																																0			5											56	54	55					5																	37183676		2202	4300	6502	37219433	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4607C>A	5.37:g.37183676G>T	ENSP00000421690:p.Pro1536His		37219433	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606614	0.87157	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.6	4.72	0.59763	.	0.000000	0.44285	D	0.000466	T	0.73760	0.3628	N	0.24115	0.695	0.44117	D	0.996894	D;P	0.56287	0.975;0.951	P;P	0.55011	0.766;0.503	T	0.77907	-0.2412	10	0.72032	D	0.01	.	15.8037	0.78477	0.0:0.0:0.8628:0.1372	.	1536;417	E9PH94;Q9H799	.;CE042_HUMAN	H	1536;1536;417;584;417	ENSP00000421690:P1536H;ENSP00000389014:P1536H;ENSP00000274258:P417H;ENSP00000424223:P584H	ENSP00000274258:P417H	P	-	2	0	C5orf42	37219433	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	8.317000	0.89987	1.332000	0.45431	0.655000	0.94253	CCT		0.308	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		T	37183676	G	T	37183676	3	4	440	1	0	0	0	0	1	0	0	0	2301	1000	35	3	5094	3	C5orf42	5	37183676	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	22814062	37183676	143731584	30	24383											
PCDHGA6	56109	genome.wustl.edu	37	5	140755569	140755569	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr5:140755569A>G	ENST00000517434.1	+	1	1919	c.1919A>G	c.(1918-1920)cAg>cGg	p.Q640R	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	640	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTCAAGCAGAGCCTAGTG	0.701																																																0			5											40	50	47					5																	140755569		2202	4298	6500	140735753	SO:0001583	missense	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1919A>G	5.37:g.140755569A>G	ENSP00000429601:p.Gln640Arg		140735753	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	17.01	3.279581	0.59758	.	.	ENSG00000253731	ENST00000517434	T	0.52754	0.65	4.87	3.71	0.42584	Cadherin (4);Cadherin-like (1);	0.000000	0.30036	U	0.010562	T	0.66509	0.2796	M	0.84585	2.705	0.22629	N	0.998912	D;D	0.65815	0.995;0.988	D;D	0.67548	0.949;0.952	T	0.59139	-0.7510	10	0.87932	D	0	.	7.8759	0.29592	0.7892:0.1374:0.0734:0.0	.	640;640	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	R	640	ENSP00000429601:Q640R	ENSP00000429601:Q640R	Q	+	2	0	PCDHGA6	140735753	0.992000	0.36948	1.000000	0.80357	0.984000	0.73092	4.161000	0.58170	0.989000	0.38761	0.460000	0.39030	CAG		0.701	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		G	140755569	A	G	140755569	3	3	440	1	0	0	0	0	1	0	0	0	11558	188	7	4	1921	4	PCDHGA6	5	140755569	Missense_Mutation	SNP	A	TCGA-61-1914-01A-01W-0639-09	103571893	140755569	40159691	31	24384											
MBOAT1	154141	genome.wustl.edu	37	6	20151417	20151417	+	Splice_Site	SNP	T	T	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr6:20151417T>A	ENST00000324607.7	-	3	486	c.322A>T	c.(322-324)Aga>Tga	p.R108*	MBOAT1_ENST00000536798.1_Splice_Site_p.R108*|MBOAT1_ENST00000541730.1_5'UTR	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	108					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			GTATCTTACCTGTGAATATTG	0.368																																																0			6											133	118	124					6																	20151417		2203	4300	6503	20259396	SO:0001630	splice_region_variant	154141			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.323+1A>T	6.37:g.20151417T>A			20259396	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Nonsense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	T	37	6.584333	0.97684	.	.	ENSG00000172197	ENST00000324607;ENST00000536798	.	.	.	5.69	5.69	0.88448	.	0.100367	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-8.9093	14.9263	0.70881	0.0:0.0:0.0:1.0	.	.	.	.	X	108	.	ENSP00000324944:R108X	R	-	1	2	MBOAT1	20259396	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.093000	0.64517	2.150000	0.67090	0.528000	0.53228	AGA		0.368	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		Nonsense_Mutation	A	20151417	T	A	20151417	5	1	440	1	0	0	0	0	0	0	1	0	9356	1594	55	5	1209	5	MBOAT1	6	20151417	Splice_Site	SNP	T	TCGA-61-1914-01A-01W-0639-09		20151417	150963650	32	24385											
HIST1H1C	3006	genome.wustl.edu	37	6	26056537	26056537	+	Silent	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr6:26056537C>T	ENST00000343677.2	-	1	162	c.120G>A	c.(118-120)gtG>gtA	p.V40V		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	40	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGAGCTCTGACACCGGGGGAC	0.627																																																0			6											48	56	53					6																	26056537		2203	4300	6503	26164516	SO:0001819	synonymous_variant	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.120G>A	6.37:g.26056537C>T			26164516	A8K4I2	Silent	SNP	ENST00000343677.2	37	CCDS4577.1																																																																																				0.627	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		T	26056537	C	T	26056537	2	4	440	1	0	0	0	0	0	0	0	1	7124	465	17	2		2	HIST1H1C	6	26056537	Silent	SNP	C	TCGA-61-1914-01A-01W-0639-09	5905120	26056537	145058530	33	24386											
BAT2	7916	genome.wustl.edu	37	6	31593305	31593305	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr6:31593305C>G	ENST00000376033.2	+	7	910	c.676C>G	c.(676-678)Cat>Gat	p.H226D	PRRC2A_ENST00000376007.4_Missense_Mutation_p.H226D|SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000469577.1_3'UTR	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	226	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCCAAACTTCATCATGGTCA	0.567																																																0			6											76	79	78					6																	31593305		2203	4300	6503	31701284	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.676C>G	6.37:g.31593305C>G	ENSP00000365201:p.His226Asp		31701284	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768102	0.31320	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01495	4.83;4.83	5.06	5.06	0.68205	.	0.114750	0.39834	N	0.001244	T	0.00724	0.0024	N	0.11560	0.145	0.34547	D	0.710871	B	0.19583	0.037	B	0.20767	0.031	T	0.56535	-0.7963	10	0.87932	D	0	-4.588	15.9558	0.79886	0.0:1.0:0.0:0.0	.	226	P48634	PRC2A_HUMAN	D	226	ENSP00000365175:H226D;ENSP00000365201:H226D	ENSP00000365175:H226D	H	+	1	0	PRRC2A	31701284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.861000	0.39438	2.628000	0.89032	0.655000	0.94253	CAT		0.567	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		G	31593305	C	G	31593305	3	3	440	1	0	0	0	0	1	0	0	0	1319	826	29	3	698	3	BAT2	6	31593305	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	5536768	31593305	139521762	34	24387											
GPR111	222611	genome.wustl.edu	37	6	47649659	47649659	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr6:47649659G>A	ENST00000296862.1	+	6	1364	c.1364G>A	c.(1363-1365)gGc>gAc	p.G455D	GPR111_ENST00000507065.1_Missense_Mutation_p.G387D|GPR111_ENST00000398742.2_Missense_Mutation_p.G387D			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	455					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTAGGCCTGGGCATTTCTATT	0.423																																																0			6											165	151	155					6																	47649659		1954	4137	6091	47757618	SO:0001583	missense	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1364G>A	6.37:g.47649659G>A	ENSP00000296862:p.Gly455Asp		47757618	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37		.	.	.	.	.	.	.	.	.	.	G	15.57	2.873515	0.51695	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.46819	0.86;0.86;0.86	5.43	5.43	0.79202	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000005	T	0.66752	0.2821	M	0.86864	2.845	0.43043	D	0.994638	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.72308	-0.4332	10	0.62326	D	0.03	.	13.8962	0.63773	0.0:0.1525:0.8475:0.0	.	387;455	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	D	387;455;387	ENSP00000422934:G387D;ENSP00000296862:G455D;ENSP00000381727:G387D	ENSP00000296862:G455D	G	+	2	0	GPR111	47757618	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	5.214000	0.65236	2.544000	0.85801	0.591000	0.81541	GGC		0.423	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		A	47649659	G	A	47649659	3	1	440	1	0	0	0	0	1	0	0	0	6628	1203	42	2	1178	2	GPR111	6	47649659	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	16056354	47649659	123465408	35	24388											
DST	667	genome.wustl.edu	37	6	56483870	56483870	+	Silent	SNP	C	C	T	rs370912424		TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr6:56483870C>T	ENST00000370765.6	-	23	5069	c.4962G>A	c.(4960-4962)gcG>gcA	p.A1654A	DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3724					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTGACTTTTCGCCAGGTCTT	0.353													C|||	1	0.000199681	0	0	5008	,	,		19699	0		0	False		,,,				2504	0.001															0			6						C	,	0,4406		0,0,2203	117	127	123		4962,	1.3	1	6		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	DST	NM_001723.5,NM_015548.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1654/2650,	56483870	1,13005	2203	4300	6503	56591829	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4962G>A	6.37:g.56483870C>T			56591829	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	CCDS4959.1																																																																																				0.353	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56483870	C	T	56483870	2	4	440	1	0	0	0	0	0	0	0	1	4783	871	31	1		1	DST	6	56483870	Silent	SNP	C	TCGA-61-1914-01A-01W-0639-09	8834211	56483870	114631197	36	24389											
THBS2	7058	genome.wustl.edu	37	6	169625424	169625424	+	Silent	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr6:169625424G>A	ENST00000366787.3	-	18	2838	c.2589C>T	c.(2587-2589)gaC>gaT	p.D863D	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	863					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		cgtcatctatgtcctcgttgt	0.582																																					Esophageal Squamous(91;219 1934 18562 44706)											0			6											232	186	202					6																	169625424		2193	4295	6488	169367349	SO:0001819	synonymous_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2589C>T	6.37:g.169625424G>A			169367349	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.582	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		A	169625424	G	A	169625424	2	1	440	1	0	0	0	0	0	0	0	1	15854	1368	48	2		2	THBS2	6	169625424	Silent	SNP	G	TCGA-61-1914-01A-01W-0639-09	113141554	169625424	1489643	37	24390											
HOXA2	3199	genome.wustl.edu	37	7	27141071	27141071	+	Silent	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr7:27141071G>A	ENST00000222718.5	-	2	715	c.405C>T	c.(403-405)atC>atT	p.I135I	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	135					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGCCATCGGCGATTTCCAGGG	0.512																																																0			7											21	23	22					7																	27141071		2164	4249	6413	27107596	SO:0001819	synonymous_variant	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.405C>T	7.37:g.27141071G>A			27107596	A1L4K3|B2RMW3	Silent	SNP	ENST00000222718.5	37	CCDS5403.1																																																																																				0.512	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			A	27141071	G	A	27141071	2	1	440	1	0	0	0	0	0	0	0	1	7292	1048	37	1		1	HOXA2	7	27141071	Silent	SNP	G	TCGA-61-1914-01A-01W-0639-09		27141071	131997592	38	24391											
RAMP3	10268	genome.wustl.edu	37	7	45222905	45222905	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr7:45222905C>T	ENST00000242249.4	+	3	379	c.341C>T	c.(340-342)cCc>cTc	p.P114L	RAMP3_ENST00000481345.1_Missense_Mutation_p.P114L|RAMP3_ENST00000496212.1_Missense_Mutation_p.P114L	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	114					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TTGGAGGACCCCCCAGACGAG	0.632																																																0			7											114	111	112					7																	45222905		2203	4300	6503	45189430	SO:0001583	missense	10268			AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.341C>T	7.37:g.45222905C>T	ENSP00000242249:p.Pro114Leu		45189430	Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290433	0.59976	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.57436	0.4;0.4;0.4	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81890	-0.0725	10	0.87932	D	0	-31.6697	14.3953	0.67007	0.0:1.0:0.0:0.0	.	114	O60896	RAMP3_HUMAN	L	114	ENSP00000242249:P114L;ENSP00000419012:P114L;ENSP00000418460:P114L	ENSP00000242249:P114L	P	+	2	0	RAMP3	45189430	1.000000	0.71417	0.984000	0.44739	0.037000	0.13140	4.987000	0.63857	1.955000	0.56771	0.655000	0.94253	CCC		0.632	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		T	45222905	C	T	45222905	3	4	440	1	0	0	0	0	1	0	0	0	13026	623	22	2	351	2	RAMP3	7	45222905	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	18081834	45222905	113915758	39	24392											
SEMA3E	9723	genome.wustl.edu	37	7	83029431	83029431	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr7:83029431T>A	ENST00000307792.3	-	11	1746	c.1279A>T	c.(1279-1281)Aca>Tca	p.T427S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.T367S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	427	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTCCATCTGTTTTTACCAAT	0.413																																																0			7											216	192	200					7																	83029431		2203	4300	6503	82867367	SO:0001583	missense	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1279A>T	7.37:g.83029431T>A	ENSP00000303212:p.Thr427Ser		82867367	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972549	0.74246	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.10668	2.85;2.85	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	M	0.62723	1.935	0.43756	D	0.99626	P	0.42375	0.778	P	0.58577	0.841	T	0.00885	-1.1527	10	0.35671	T	0.21	.	10.077	0.42366	0.0:0.0748:0.0:0.9252	.	427	O15041	SEM3E_HUMAN	S	427;367;427	ENSP00000303212:T427S;ENSP00000405052:T367S	ENSP00000303212:T427S	T	-	1	0	SEMA3E	82867367	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	3.438000	0.52871	2.092000	0.63282	0.482000	0.46254	ACA		0.413	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	83029431	T	A	83029431	3	1	440	1	0	0	0	0	1	0	0	0	14031	1725	60	5	1076	5	SEMA3E	7	83029431	Missense_Mutation	SNP	T	TCGA-61-1914-01A-01W-0639-09	37806526	83029431	76109232	40	24393											
ERI1	90459	genome.wustl.edu	37	8	8875875	8875875	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr8:8875875G>T	ENST00000523898.1	+	6	1330	c.651G>T	c.(649-651)aaG>aaT	p.K217N	ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Missense_Mutation_p.K217N|ERI1_ENST00000519292.1_Missense_Mutation_p.K217N			Q8IV48	ERI1_HUMAN	exoribonuclease 1	217	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						TGAAATTGAAGGAATTAGGAA	0.289																																																0			8											53	56	55					8																	8875875		2203	4299	6502	8913285	SO:0001583	missense	90459			BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"Enhanced RNAi three prime mRNA exonucleases"	23994	protein-coding gene	gene with protein product	"exoribonuclease 1", "enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"	608739	"three prime histone mRNA exonuclease 1"	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.651G>T	8.37:g.8875875G>T	ENSP00000429615:p.Lys217Asn		8913285	A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238140	0.58886	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.22336	1.96;1.96;1.96	5.83	2.71	0.32032	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.094526	0.64402	D	0.000001	T	0.14442	0.0349	L	0.31120	0.905	0.48901	D	0.999729	B	0.29805	0.257	B	0.32211	0.142	T	0.09357	-1.0678	10	0.27082	T	0.32	-9.5325	9.0792	0.36540	0.3585:0.0:0.6415:0.0	.	217	Q8IV48	ERI1_HUMAN	N	217	ENSP00000429615:K217N;ENSP00000250263:K217N;ENSP00000430190:K217N	ENSP00000250263:K217N	K	+	3	2	ERI1	8913285	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.334000	0.33827	0.615000	0.30124	0.561000	0.74099	AAG		0.289	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		T	8875875	G	T	8875875	3	4	440	1	0	0	0	0	1	0	0	0	5227	991	35	3	669	3	ERI1	8	8875875	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09		8875875	137488147	41	24394											
ELAVL2	1993	genome.wustl.edu	37	9	23692735	23692735	+	Silent	SNP	T	T	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr9:23692735T>A	ENST00000397312.2	-	7	1174	c.900A>T	c.(898-900)ggA>ggT	p.G300G	ELAVL2_ENST00000223951.6_Silent_p.G287G|ELAVL2_ENST00000544538.1_Silent_p.G300G|ELAVL2_ENST00000380117.1_Silent_p.G300G|ELAVL2_ENST00000380110.4_Silent_p.G330G	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	300	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGGTGACAGCTCCAAAAGGCC	0.468																																																0			9											145	128	133					9																	23692735		2203	4300	6503	23682735	SO:0001819	synonymous_variant	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.900A>T	9.37:g.23692735T>A			23682735	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	37	CCDS6515.1																																																																																				0.468	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		A	23692735	T	A	23692735	2	1	440	1	0	0	0	0	0	0	0	1	5050	1538	54	5		5	ELAVL2	9	23692735	Silent	SNP	T	TCGA-61-1914-01A-01W-0639-09		23692735	117520696	42	24395											
FAM102A	399665	genome.wustl.edu	37	9	130710666	130710666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr9:130710666C>A	ENST00000373095.1	-	5	817	c.442G>T	c.(442-444)Gga>Tga	p.G148*	FAM102A_ENST00000300434.3_Intron|FAM102A_ENST00000373084.4_Nonsense_Mutation_p.G6*	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	148										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CAGGGATCTCCAGAGAGCAGG	0.642																																																0			9											114	101	106					9																	130710666		2203	4300	6503	129750487	SO:0001587	stop_gained	399665				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.442G>T	9.37:g.130710666C>A	ENSP00000362187:p.Gly148*		129750487	A2A329|Q8TEL4	Nonsense_Mutation	SNP	ENST00000373095.1	37	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	C	41	8.710433	0.98925	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.9857	16.3282	0.82996	0.0:1.0:0.0:0.0	.	.	.	.	X	148;6	.	ENSP00000362176:G6X	G	-	1	0	FAM102A	129750487	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.708000	0.84633	2.189000	0.69895	0.563000	0.77884	GGA		0.642	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			A	130710666	C	A	130710666	4	1	440	1	0	0	0	0	0	1	0	0	5382	603	21	3	740	3	FAM102A	9	130710666	Nonsense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	107017931	130710666	10502765	43	24396											
C10orf71	118461	genome.wustl.edu	37	10	50532784	50532784	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr10:50532784T>A	ENST00000374144.3	+	3	2482	c.2194T>A	c.(2194-2196)Tct>Act	p.S732T	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	732										endometrium(1)	1						CAGCACCAGCTCTTCAGATCA	0.498																																																0			10											66	55	58					10																	50532784		692	1591	2283	50202790	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2194T>A	10.37:g.50532784T>A	ENSP00000363259:p.Ser732Thr		50202790	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.645412	0.87859	.	.	ENSG00000177354	ENST00000374144	T	0.13538	2.58	5.64	5.64	0.86602	.	0.000000	0.34178	U	0.004200	T	0.20251	0.0487	L	0.34521	1.04	0.80722	D	1	.	.	.	.	.	.	T	0.00807	-1.1558	8	0.62326	D	0.03	.	14.4225	0.67193	0.0:0.0:0.0:1.0	.	.	.	.	T	732	ENSP00000363259:S732T	ENSP00000363259:S732T	S	+	1	0	C10orf71	50202790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.172000	0.65003	2.160000	0.67779	0.482000	0.46254	TCT		0.498	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50532784	T	A	50532784	3	1	440	1	0	0	0	0	1	0	0	0	1614	1551	54	5	2196	5	C10orf71	10	50532784	Missense_Mutation	SNP	T	TCGA-61-1914-01A-01W-0639-09		50532784	85001963	44	24397											
RGR	5995	genome.wustl.edu	37	10	86012656	86012656	+	Silent	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr10:86012656C>T	ENST00000359452.4	+	4	452	c.414C>T	c.(412-414)ttC>ttT	p.F138F	RGR_ENST00000358110.5_Silent_p.F134F	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	134					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGGTGCTCTTCGTGTGGCTGT	0.587																																					NSCLC(15;204 545 5889 6385 32445)											0			10											147	110	122					10																	86012656		2203	4300	6503	86002636	SO:0001819	synonymous_variant	5995			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.414C>T	10.37:g.86012656C>T			86002636	A6NKK7|Q96FC5	Silent	SNP	ENST00000359452.4	37	CCDS7374.1																																																																																				0.587	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		T	86012656	C	T	86012656	2	4	440	1	0	0	0	0	0	0	0	1	13294	883	31	1		1	RGR	10	86012656	Silent	SNP	C	TCGA-61-1914-01A-01W-0639-09	35479872	86012656	49522091	45	24398											
MGEA5	10724	genome.wustl.edu	37	10	103563611	103563611	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr10:103563611C>T	ENST00000361464.3	-	7	1312	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	MGEA5_ENST00000439817.1_Missense_Mutation_p.R306Q|MGEA5_ENST00000370094.3_Missense_Mutation_p.R306Q|MGEA5_ENST00000357797.5_Missense_Mutation_p.R306Q	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	306					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCCTTTTAACCGTGGGATGAG	0.433																																																0			10											204	190	195					10																	103563611		2203	4300	6503	103553601	SO:0001583	missense	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.917G>A	10.37:g.103563611C>T	ENSP00000354850:p.Arg306Gln		103553601	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106256	0.94292	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.30448	1.54;1.54;1.55;1.53	5.82	5.82	0.92795	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	N	0.05510	-0.035	0.80722	D	1	P;P;P;P	0.43519	0.809;0.63;0.63;0.68	B;B;B;B	0.38842	0.283;0.186;0.186;0.283	T	0.04961	-1.0915	10	0.24483	T	0.36	-12.0432	20.0991	0.97865	0.0:1.0:0.0:0.0	.	306;306;306;306	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	Q	306;306;306;306;221	ENSP00000409973:R306Q;ENSP00000354850:R306Q;ENSP00000350445:R306Q;ENSP00000359112:R306Q	ENSP00000350445:R306Q	R	-	2	0	MGEA5	103553601	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.019000	0.70818	2.752000	0.94435	0.655000	0.94253	CGG		0.433	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		T	103563611	C	T	103563611	3	4	440	1	0	0	0	0	1	0	0	0	9555	652	23	1	1873	1	MGEA5	10	103563611	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	17550955	103563611	31971136	46	24399											
CD5	921	genome.wustl.edu	37	11	60889153	60889153	+	Silent	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr11:60889153C>A	ENST00000347785.3	+	6	1042	c.876C>A	c.(874-876)cgC>cgA	p.R292R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	292	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TGGAGGTGCGCCAGGGGGCTC	0.652																																																0			11											49	44	46					11																	60889153		2203	4299	6502	60645729	SO:0001819	synonymous_variant	921			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.876C>A	11.37:g.60889153C>A			60645729	A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	37	CCDS8000.1																																																																																				0.652	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		A	60889153	C	A	60889153	2	1	440	1	0	0	0	0	0	0	0	1	3021	726	26	3		3	CD5	11	60889153	Silent	SNP	C	TCGA-61-1914-01A-01W-0639-09		60889153	74117363	47	24400											
SAPS3	55291	genome.wustl.edu	37	11	68367848	68367848	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr11:68367848C>G	ENST00000393800.2	+	20	2332	c.2078C>G	c.(2077-2079)aCa>aGa	p.T693R	PPP6R3_ENST00000393799.2_Missense_Mutation_p.T693R|PPP6R3_ENST00000393801.3_Missense_Mutation_p.T693R|PPP6R3_ENST00000527403.2_Missense_Mutation_p.T658R|PPP6R3_ENST00000529710.1_Missense_Mutation_p.T613R|PPP6R3_ENST00000534534.1_Missense_Mutation_p.T461R|PPP6R3_ENST00000524904.1_Missense_Mutation_p.T687R|PPP6R3_ENST00000265636.5_Missense_Mutation_p.T613R|PPP6R3_ENST00000265637.4_Missense_Mutation_p.T647R|PPP6R3_ENST00000524845.1_Missense_Mutation_p.T664R	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	693					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCAATGGAAACAACCCACGGT	0.473																																																0			11											115	111	112					11																	68367848		2200	4294	6494	68124424	SO:0001583	missense	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2078C>G	11.37:g.68367848C>G	ENSP00000377389:p.Thr693Arg		68124424	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051764	0.55218	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.45	5.45	0.79879	.	0.050331	0.85682	D	0.000000	T	0.63379	0.2506	L	0.29908	0.895	0.58432	D	0.999999	D;P;D;D;D;D;D;D	0.89917	1.0;0.745;0.981;0.997;0.981;0.968;1.0;0.981	D;B;P;D;P;P;D;P	0.91635	0.999;0.224;0.872;0.931;0.872;0.749;0.999;0.817	T	0.60840	-0.7183	10	0.35671	T	0.21	.	19.3058	0.94163	0.0:1.0:0.0:0.0	.	376;461;613;664;687;693;693;613	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	R	693;693;461;664;647;687;693;613;613;658;400	ENSP00000377388:T693R;ENSP00000377389:T693R;ENSP00000434429:T461R;ENSP00000431415:T664R;ENSP00000265637:T647R;ENSP00000433058:T687R;ENSP00000377390:T693R;ENSP00000265636:T613R;ENSP00000437329:T613R;ENSP00000433565:T658R;ENSP00000436209:T400R	ENSP00000265636:T613R	T	+	2	0	PPP6R3	68124424	1.000000	0.71417	0.918000	0.36340	0.084000	0.17831	5.628000	0.67791	2.558000	0.86282	0.655000	0.94253	ACA		0.473	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		G	68367848	C	G	68367848	3	3	440	1	0	0	0	0	1	0	0	0	13841	478	17	3	2148	3	SAPS3	11	68367848	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	7478695	68367848	66638668	48	24401											
PICALM	8301	genome.wustl.edu	37	11	85685847	85685847	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr11:85685847T>A	ENST00000393346.3	-	19	1996	c.1848A>T	c.(1846-1848)caA>caT	p.Q616H	PICALM_ENST00000532317.1_Missense_Mutation_p.Q574H|PICALM_ENST00000528398.1_Missense_Mutation_p.Q515H|PICALM_ENST00000526033.1_Missense_Mutation_p.Q609H|PICALM_ENST00000356360.5_Missense_Mutation_p.Q596H			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	616					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CACTTCCCATTTGTGGAGGCT	0.418			T	"MLLT10, MLL"	"TALL, AML, "																																		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0			11											186	159	168					11																	85685847		2203	4299	6502	85363495	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1848A>T	11.37:g.85685847T>A	ENSP00000377015:p.Gln616His		85363495	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	CCDS8272.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	14.91|14.91|14.91	2.675690|2.675690|2.675690	0.47781|0.47781|0.47781	.|.|.	.|.|.	ENSG00000073921|ENSG00000073921|ENSG00000073921	ENST00000530692|ENST00000529760;ENST00000532603;ENST00000526961|ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.|.|T;T;T;T;T	.|.|0.55234	.|.|0.53;0.53;0.53;0.53;0.53	5.87|5.87|5.87	0.564|0.564|0.564	0.17302|0.17302|0.17302	.|.|.	.|.|0.056455	.|.|0.64402	.|.|D	.|.|0.000001	T|T|T	0.65637|0.65637|0.65637	0.2710|0.2710|0.2710	M|M|M	0.70275|0.70275|0.70275	2.135|2.135|2.135	0.42561|0.42561|0.42561	D|D|D	0.993149|0.993149|0.993149	.|.|B;D;B;B;B;B	.|.|0.65815	.|.|0.001;0.995;0.054;0.024;0.009;0.151	.|.|B;D;B;B;B;B	.|.|0.77004	.|.|0.002;0.989;0.039;0.029;0.006;0.066	T|T|T	0.63629|0.63629|0.63629	-0.6594|-0.6594|-0.6594	5|5|9	.|.|.	.|.|.	.|.|.	-5.6115|-5.6115|-5.6115	9.7342|9.7342|9.7342	0.40377|0.40377|0.40377	0.0:0.4043:0.0:0.5957|0.0:0.4043:0.0:0.5957|0.0:0.4043:0.0:0.5957	.|.|.	.|.|515;201;624;609;616;574	.|.|E9PN05;B4DLM1;A8MX97;F8VPG7;Q13492;Q13492-3	.|.|.;.;.;.;PICAL_HUMAN;.	I|Y|H	153|272;98;228|574;609;616;616;515;596	.|.|ENSP00000436958:Q574H;ENSP00000433846:Q609H;ENSP00000377015:Q616H;ENSP00000434884:Q515H;ENSP00000348718:Q596H	.|.|.	K|N|Q	-|-|-	2|1|3	0|0|2	PICALM|PICALM|PICALM	85363495|85363495|85363495	0.988000|0.988000|0.988000	0.35896|0.35896|0.35896	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.969000|0.969000|0.969000	0.65631|0.65631|0.65631	0.140000|0.140000|0.140000	0.16056|0.16056|0.16056	0.209000|0.209000|0.209000	0.20645|0.20645|0.20645	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AAA|AAT|CAA		0.418	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		A	85685847	T	A	85685847	3	1	440	1	0	0	0	0	1	0	0	0	11880	1838	64	5	118	5	PICALM	11	85685847	Missense_Mutation	SNP	T	TCGA-61-1914-01A-01W-0639-09	17317999	85685847	49320669	49	24402											
OR8B12	219858	genome.wustl.edu	37	11	124412873	124412873	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr11:124412873G>T	ENST00000306842.2	-	1	702	c.678C>A	c.(676-678)caC>caA	p.H226Q		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TAGAACTGTTGTGTAGAATGC	0.428																																																0			11											84	75	78					11																	124412873		2201	4299	6500	123918083	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.678C>A	11.37:g.124412873G>T	ENSP00000307159:p.His226Gln		123918083	B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	G	1.570	-0.534315	0.04082	.	.	ENSG00000170953	ENST00000306842	T	0.00044	8.83	3.89	-0.546	0.11840	GPCR, rhodopsin-like superfamily (1);	0.487586	0.19272	N	0.118368	T	0.00073	0.0002	N	0.16602	0.42	0.09310	N	1	B	0.21520	0.057	B	0.27715	0.082	T	0.30822	-0.9965	10	0.39692	T	0.17	.	0.8589	0.01189	0.3277:0.2943:0.2285:0.1496	.	226	Q8NGG6	OR8BC_HUMAN	Q	226	ENSP00000307159:H226Q	ENSP00000307159:H226Q	H	-	3	2	OR8B12	123918083	0.000000	0.05858	0.005000	0.12908	0.367000	0.29736	-0.998000	0.03701	-0.081000	0.12662	-0.142000	0.14014	CAC		0.428	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			T	124412873	G	T	124412873	3	4	440	1	0	0	0	0	1	0	0	0	11226	1368	48	3	256	3	OR8B12	11	124412873	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	38727026	124412873	10593643	50	24403											
CD163L1	283316	genome.wustl.edu	37	12	7585182	7585182	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr12:7585182G>A	ENST00000313599.3	-	4	653	c.596C>T	c.(595-597)cCa>cTa	p.P199L	CD163L1_ENST00000416109.2_Missense_Mutation_p.P209L|CD163L1_ENST00000396630.1_Missense_Mutation_p.P199L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	199	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAAGAAGATGGACATCCTAG	0.478																																																0			12											113	100	105					12																	7585182		2203	4300	6503	7476449	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.596C>T	12.37:g.7585182G>A	ENSP00000315945:p.Pro199Leu		7476449	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100183	0.56183	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.29917	1.55;1.55;1.55	2.22	1.32	0.21799	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.26919	0.0659	L	0.53780	1.695	0.32315	N	0.563175	B;B	0.34349	0.45;0.45	B;B	0.34301	0.179;0.179	T	0.36040	-0.9764	9	0.66056	D	0.02	.	6.9789	0.24692	0.1544:0.0:0.8456:0.0	.	209;199	E7EVK4;Q9NR16	.;C163B_HUMAN	L	199;209;199	ENSP00000315945:P199L;ENSP00000393474:P209L;ENSP00000379871:P199L	ENSP00000315945:P199L	P	-	2	0	CD163L1	7476449	0.356000	0.24930	0.124000	0.21820	0.730000	0.41778	0.838000	0.27572	0.481000	0.27557	0.563000	0.77884	CCA		0.478	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7585182	G	A	7585182	3	1	440	1	0	0	0	0	1	0	0	0	2968	1348	47	2	3829	2	CD163L1	12	7585182	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09		7585182	126266713	51	24404											
APOBEC1	339	genome.wustl.edu	37	12	7805355	7805355	+	Missense_Mutation	SNP	C	C	T	rs144382507	byFrequency	TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr12:7805355C>T	ENST00000229304.4	-	3	141	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	41					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E41K(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CACTTGATTTCGTAGAGCAGA	0.448																																					Pancreas(135;929 1826 4531 10527 41012)											1	Substitution - Missense(1)	large_intestine(1)	12											41	43	43					12																	7805355		2203	4299	6502	7696622	SO:0001583	missense	339			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.121G>A	12.37:g.7805355C>T	ENSP00000229304:p.Glu41Lys		7696622	Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.868103	0.72065	.	.	ENSG00000111701	ENST00000229304	T	0.66280	-0.2	4.48	4.48	0.54585	APOBEC-like, N-terminal (1);	0.000000	0.56097	D	0.000025	T	0.78780	0.4337	M	0.82056	2.57	0.35064	D	0.761806	D	0.89917	1.0	D	0.91635	0.999	D	0.86200	0.1618	10	0.87932	D	0	-19.9258	13.0361	0.58873	0.0:1.0:0.0:0.0	.	41	P41238	ABEC1_HUMAN	K	41	ENSP00000229304:E41K	ENSP00000229304:E41K	E	-	1	0	APOBEC1	7696622	1.000000	0.71417	0.982000	0.44146	0.541000	0.35023	3.725000	0.54970	2.224000	0.72417	0.462000	0.41574	GAA		0.448	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		T	7805355	C	T	7805355	3	4	440	1	0	0	0	0	1	0	0	0	787	893	31	1	601	1	APOBEC1	12	7805355	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	220173	7805355	126046540	52	24405											
CLEC12B	387837	genome.wustl.edu	37	12	10168309	10168325	+	Splice_Site	DEL	TGTTCCCTCTCCATCCT	TGTTCCCTCTCCATCCT	-			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	TGTTCCCTCTCCATCCT	TGTTCCCTCTCCATCCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr12:10168309_10168325delTGTTCCCTCTCCATCCT	ENST00000338896.5	+	5	791_807	c.663_679delTGTTCCCTCTCCATCCT	c.(661-681)tctgttccctctccatcctta>tcta	p.VPSPSL222fs	CLEC12B_ENST00000396502.1_Frame_Shift_Del_p.VPSPSL222fs|CLEC1B_ENST00000428126.2_5'Flank|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	222	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						AAGATGGCTCTGTTCCCTCTCCATCCTTGTACGTCTC	0.401																																																0			12																																								10059592	SO:0001630	splice_region_variant	387837			AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"C-type lectin domain containing"	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.680+1TGTTCCCTCTCCATCCT>-	12.37:g.10168309_10168325delTGTTCCCTCTCCATCCT			10059576	Q6UWF2|Q6ZRG0	Frame_Shift_Del	DEL	ENST00000338896.5	37	CCDS44830.1																																																																																				0.401	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852	Frame_Shift_Del	-	10168325	TGTTCCCTCTCCATCCT	-	10168309	8	5	440	1	0	1	0	1	0	0	1	0	3498	1567	55	0	681	0	CLEC12B	12	10168309	Splice_Site	DEL	TGTTCCCTCTCCATCCT	TCGA-61-1914-01A-01W-0639-09	2362954	10168309	123683586	53	24406											
CASC1	55259	genome.wustl.edu	37	12	25300038	25300038	+	Splice_Site	SNP	G	G	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr12:25300038G>C	ENST00000320267.9	-	7	649	c.568C>G	c.(568-570)Caa>Gaa	p.Q190E	CASC1_ENST00000354189.5_Splice_Site_p.Q254E|CASC1_ENST00000395987.3_Splice_Site_p.Q196E|CASC1_ENST00000395990.2_Splice_Site_p.Q150E|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Splice_Site_p.Q131E|CASC1_ENST00000537577.1_Splice_Site_p.Q78E	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	190										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTACTAGCTTGCTGTAAGAGA	0.343																																																0			12											132	127	129					12																	25300038		2203	4300	6503	25191305	SO:0001630	splice_region_variant	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.568-1C>G	12.37:g.25300038G>C			25191305	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	G	3.774	-0.046959	0.07407	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.43	3.49	0.39957	.	0.892392	0.09942	N	0.735862	T	0.24431	0.0592	L	0.48362	1.52	0.26836	N	0.968489	B;B;B;B;B	0.20887	0.004;0.004;0.049;0.002;0.004	B;B;B;B;B	0.20184	0.009;0.016;0.028;0.007;0.016	T	0.33497	-0.9866	10	0.07644	T	0.81	-9.7637	8.9353	0.35695	0.0:0.161:0.6722:0.1668	.	78;131;254;190;196	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	E	254;196;190;150;78;196;131	ENSP00000346126:Q254E;ENSP00000379310:Q196E;ENSP00000313141:Q190E;ENSP00000379313:Q150E;ENSP00000444715:Q78E;ENSP00000437373:Q131E	ENSP00000313141:Q190E	Q	-	1	0	CASC1	25191305	0.999000	0.42202	0.999000	0.59377	0.940000	0.58332	0.807000	0.27140	1.250000	0.43966	0.573000	0.79308	CAA		0.343	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	Missense_Mutation	C	25300038	G	C	25300038	5	2	440	1	0	0	0	0	0	0	1	0	2660	1333	46	3	1618	3	CASC1	12	25300038	Splice_Site	SNP	G	TCGA-61-1914-01A-01W-0639-09	15131729	25300038	108551857	54	24407											
ANO6	196527	genome.wustl.edu	37	12	45814883	45814883	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr12:45814883G>T	ENST00000320560.8	+	18	2449	c.2247G>T	c.(2245-2247)atG>atT	p.M749I	ANO6_ENST00000425752.2_Missense_Mutation_p.M749I|ANO6_ENST00000423947.3_Missense_Mutation_p.M770I|ANO6_ENST00000441606.2_Missense_Mutation_p.M731I|ANO6_ENST00000435642.1_Missense_Mutation_p.M749I|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	749					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CGTCGGACATGATCCCCCGCC	0.473																																																0			12											189	161	170					12																	45814883		2203	4300	6503	44101150	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2247G>T	12.37:g.45814883G>T	ENSP00000320087:p.Met749Ile		44101150	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866079	0.51588	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.69435	-0.4;-0.27;-0.4;-0.27;-0.26	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.49571	1.57	0.80722	D	1	B;B;P;B	0.35684	0.029;0.001;0.515;0.003	B;B;B;B	0.38378	0.057;0.007;0.272;0.014	T	0.65615	-0.6125	10	0.40728	T	0.16	.	19.2834	0.94061	0.0:0.0:1.0:0.0	.	731;770;749;749	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	I	749;770;749;749;731	ENSP00000391417:M749I;ENSP00000409126:M770I;ENSP00000413840:M749I;ENSP00000320087:M749I;ENSP00000413137:M731I	ENSP00000320087:M749I	M	+	3	0	ANO6	44101150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.585000	0.74062	2.717000	0.92951	0.650000	0.86243	ATG		0.473	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		T	45814883	G	T	45814883	3	4	440	1	0	0	0	0	1	0	0	0	701	1290	45	3	2337	3	ANO6	12	45814883	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	20514845	45814883	88037012	55	24408											
ZDHHC17	23390	genome.wustl.edu	37	12	77244680	77244680	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr12:77244680T>C	ENST00000426126.2	+	17	2463	c.1814T>C	c.(1813-1815)cTc>cCc	p.L605P	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.L605P	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	605					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGCTGTGGCCTCTTTCGTCCT	0.413																																																0			12											153	153	153					12																	77244680		1914	4125	6039	75768811	SO:0001583	missense	23390			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1814T>C	12.37:g.77244680T>C	ENSP00000403397:p.Leu605Pro		75768811	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334148	0.60853	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.36340	1.26;1.26	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.61412	-0.7068	10	0.87932	D	0	-7.5927	15.3882	0.74718	0.0:0.0:0.0:1.0	.	605	Q8IUH5	ZDH17_HUMAN	P	605	ENSP00000403397:L605P;ENSP00000334868:L605P	ENSP00000334868:L605P	L	+	2	0	ZDHHC17	75768811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.841000	0.86834	2.044000	0.60594	0.460000	0.39030	CTC		0.413	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		C	77244680	T	C	77244680	3	2	440	1	0	0	0	0	1	0	0	0	17607	1551	54	4	1880	4	ZDHHC17	12	77244680	Missense_Mutation	SNP	T	TCGA-61-1914-01A-01W-0639-09	31429797	77244680	56607215	56	24409											
CDK17	5128	genome.wustl.edu	37	12	96688862	96688874	+	Frame_Shift_Del	DEL	GCAATATGCCAAA	GCAATATGCCAAA	-	rs528370481	byFrequency	TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	GCAATATGCCAAA	GCAATATGCCAAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr12:96688862_96688874delGCAATATGCCAAA	ENST00000261211.3	-	10	1503_1515	c.900_912delTTTGGCATATTGC	c.(898-912)ggtttggcatattgcfs	p.GLAYC300fs	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Frame_Shift_Del_p.GLAYC247fs|CDK17_ENST00000543119.2_Frame_Shift_Del_p.GLAYC300fs	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.L301F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TTCTTCTATGGCAATATGCCAAACCACGTAGAA	0.343																																																1	Substitution - Missense(1)	kidney(1)	12																																								95213005	SO:0001589	frameshift_variant	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.900_912delTTTGGCATATTGC	12.37:g.96688862_96688874delGCAATATGCCAAA	ENSP00000261211:p.Gly300fs		95212993	A8K1U6|B2RCQ2|Q8NEB8	Frame_Shift_Del	DEL	ENST00000261211.3	37	CCDS9061.1																																																																																				0.343	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		-	96688874	GCAATATGCCAAA	-	96688862	7	5	440	1	0	1	0	1	0	0	0	0	3133	1195	42	0	729	0	CDK17	12	96688862	Frame_Shift_Del	DEL	GCAATATGCCAAA	TCGA-61-1914-01A-01W-0639-09	19444182	96688862	37163033	57	24410											
PAH	5053	genome.wustl.edu	37	12	103249098	103249098	+	Silent	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr12:103249098G>A	ENST00000553106.1	-	6	994	c.522C>T	c.(520-522)atC>atT	p.I174I	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Silent_p.I169I	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	174			I -> T (in PKU; haplotype 1).|I -> V (in PKU).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCACTCGAGGGATGGGCTGCC	0.502																																																0			12											67	63	64					12																	103249098		2203	4300	6503	101773228	SO:0001819	synonymous_variant	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.522C>T	12.37:g.103249098G>A			101773228	Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	CCDS9092.1																																																																																				0.502	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			A	103249098	G	A	103249098	2	1	440	1	0	0	0	0	0	0	0	1	11394	1164	41	2		2	PAH	12	103249098	Silent	SNP	G	TCGA-61-1914-01A-01W-0639-09	6560236	103249098	30602797	58	24411											
KCNK10	54207	genome.wustl.edu	37	14	88654417	88654417	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr14:88654417T>C	ENST00000340700.5	-	6	1341	c.890A>G	c.(889-891)aAg>aGg	p.K297R	KCNK10_ENST00000319231.5_Missense_Mutation_p.K302R|KCNK10_ENST00000312350.5_Missense_Mutation_p.K302R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	297					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACTAGGGGCTTATACCACTC	0.443																																																0			14											160	154	156					14																	88654417		2203	4300	6503	87724170	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.890A>G	14.37:g.88654417T>C	ENSP00000343104:p.Lys297Arg		87724170	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.874266	0.51695	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.26518	1.73;1.73;1.73	5.52	5.52	0.82312	Ion transport 2 (1);	0.043589	0.85682	D	0.000000	T	0.21921	0.0528	L	0.28776	0.89	0.58432	D	0.999998	B;P;B	0.37141	0.337;0.584;0.055	B;B;B	0.41036	0.261;0.346;0.05	T	0.03212	-1.1060	10	0.10377	T	0.69	.	15.1125	0.72368	0.0:0.0:0.0:1.0	.	297;302;302	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	297;302;302	ENSP00000343104:K297R;ENSP00000310568:K302R;ENSP00000312811:K302R	ENSP00000310568:K302R	K	-	2	0	KCNK10	87724170	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.193000	0.72075	2.225000	0.72522	0.459000	0.35465	AAG		0.443	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		C	88654417	T	C	88654417	3	2	440	1	0	0	0	0	1	0	0	0	8059	1609	56	4	734	4	KCNK10	14	88654417	Missense_Mutation	SNP	T	TCGA-61-1914-01A-01W-0639-09		88654417	18695123	59	24412											
VPS13C	54832	genome.wustl.edu	37	15	62257013	62257013	+	Silent	SNP	G	G	A	rs573291312		TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr15:62257013G>A	ENST00000261517.5	-	31	3172	c.3099C>T	c.(3097-3099)gtC>gtT	p.V1033V	VPS13C_ENST00000395898.3_Silent_p.V990V|VPS13C_ENST00000395896.4_Silent_p.V1033V|VPS13C_ENST00000249837.3_Silent_p.V990V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAATAGAAGCGACAAGAGCTT	0.323													G|||	1	0.000199681	8e-04	0	5008	,	,		17367	0		0	False		,,,				2504	0															0			15											88	92	90					15																	62257013		2203	4299	6502	60044305	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3099C>T	15.37:g.62257013G>A			60044305		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																				0.323	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62257013	G	A	62257013	2	1	440	1	0	0	0	0	0	0	0	1	17191	1045	37	1		1	VPS13C	15	62257013	Silent	SNP	G	TCGA-61-1914-01A-01W-0639-09		62257013	40274379	60	24413											
HERC1	8925	genome.wustl.edu	37	15	64045211	64045211	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr15:64045211A>C	ENST00000443617.2	-	8	1935	c.1848T>G	c.(1846-1848)atT>atG	p.I616M		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	616					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAACTTTGCGAATGAACATTC	0.373																																																0			15											99	95	96					15																	64045211		1861	4097	5958	61832264	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1848T>G	15.37:g.64045211A>C	ENSP00000390158:p.Ile616Met		61832264	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698756	0.68501	.	.	ENSG00000103657	ENST00000443617	D	0.86694	-2.16	5.41	3.06	0.35304	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.067685	0.56097	U	0.000024	D	0.87509	0.6195	M	0.77712	2.385	0.40184	D	0.977322	B;P	0.36438	0.41;0.553	B;P	0.44921	0.362;0.464	D	0.83833	0.0253	10	0.49607	T	0.09	.	5.4805	0.16721	0.7293:0.0:0.1413:0.1294	.	616;616	C9JUT5;Q15751	.;HERC1_HUMAN	M	616	ENSP00000390158:I616M	ENSP00000390158:I616M	I	-	3	3	HERC1	61832264	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.902000	0.48703	0.428000	0.26173	0.528000	0.53228	ATT		0.373	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		C	64045211	A	C	64045211	3	2	440	1	0	0	0	0	1	0	0	0	7057	242	9	5	13021	5	HERC1	15	64045211	Missense_Mutation	SNP	A	TCGA-61-1914-01A-01W-0639-09	1788198	64045211	38486181	61	24414											
NME4	4833	genome.wustl.edu	37	16	449124	449124	+	Splice_Site	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr16:449124G>A	ENST00000219479.2	+	2	239		c.e2+1		DECR2_ENST00000397710.1_5'Flank|DECR2_ENST00000424398.2_5'Flank|NME4_ENST00000450036.1_Splice_Site|DECR2_ENST00000219481.5_5'Flank|NME4_ENST00000397722.1_Splice_Site|NME4_ENST00000382940.4_Splice_Site	NM_005009.2	NP_005000.1	O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4						CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				GATGCTGCAGGTAGTGGGACT	0.662																																																0			16											49	50	49					16																	449124		2200	4298	6498	389125	SO:0001630	splice_region_variant	4833			Y07604	CCDS10408.1, CCDS66886.1, CCDS73797.1	16p13.3	2013-04-29	2012-05-18		ENSG00000103202	ENSG00000103202			7852	protein-coding gene	gene with protein product		601818	"non-metastatic cells 4, protein expressed in"			9099850, 19852809	Standard	NM_005009		Approved	nm23-H4, NM23H4, NDPKD	uc002cgz.3	O00746	OTTHUMG00000047995	ENST00000219479.2:c.225+1G>A	16.37:g.449124G>A			389125	A2IDD0|Q5U0M9	Splice_Site	SNP	ENST00000219479.2	37	CCDS10408.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900880	0.52227	.	.	ENSG00000103202	ENST00000397722;ENST00000454619;ENST00000219479;ENST00000382940;ENST00000433358;ENST00000450036	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5831	0.76462	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NME4	389125	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	8.742000	0.91588	2.235000	0.73313	0.462000	0.41574	.		0.662	NME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109256.2	NM_005009	Intron	A	449124	G	A	449124	5	1	440	1	0	0	0	0	0	0	1	0	10493	1275	44	2	232	2	NME4	16	449124	Splice_Site	SNP	G	TCGA-61-1914-01A-01W-0639-09		449124	89905629	62	24415											
GTF3C1	2975	genome.wustl.edu	37	16	27487836	27487851	+	Frame_Shift_Del	DEL	TGAAGCACCAGAAAGT	TGAAGCACCAGAAAGT	-			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	TGAAGCACCAGAAAGT	TGAAGCACCAGAAAGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr16:27487836_27487851delTGAAGCACCAGAAAGT	ENST00000356183.4	-	29	4289_4304	c.4274_4289delACTTTCTGGTGCTTCA	c.(4273-4290)cactttctggtgcttcagfs	p.HFLVLQ1425fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.HFLVLQ1425fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1425					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GATCAGGTTCTGAAGCACCAGAAAGTGGATGTCATC	0.56																																																0			16																																								27395352	SO:0001589	frameshift_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4274_4289delACTTTCTGGTGCTTCA	16.37:g.27487836_27487851delTGAAGCACCAGAAAGT	ENSP00000348510:p.His1425fs		27395337	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Del	DEL	ENST00000356183.4	37	CCDS32414.1																																																																																				0.56	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		-	27487851	TGAAGCACCAGAAAGT	-	27487836	7	5	440	1	0	1	0	1	0	0	0	0	6872	1580	55	0	2076	0	GTF3C1	16	27487836	Frame_Shift_Del	DEL	TGAAGCACCAGAAAGT	TCGA-61-1914-01A-01W-0639-09	27038712	27487836	62866917	63	24416											
NOD2	64127	genome.wustl.edu	37	16	50733758	50733758	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr16:50733758C>A	ENST00000300589.2	+	2	538	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	145	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGTCAGGAGGCTCCACAGCCA	0.617																																																0			16											55	53	54					16																	50733758		2198	4300	6498	49291259	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.433C>A	16.37:g.50733758C>A	ENSP00000300589:p.Leu145Ile		49291259	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110607	0.37242	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.26373	2.16;1.74	5.29	4.28	0.50868	DEATH-like (2);Caspase Recruitment (2);	0.148500	0.30392	N	0.009726	T	0.18800	0.0451	L	0.43152	1.355	0.42933	D	0.994324	B	0.32409	0.37	B	0.30316	0.114	T	0.03597	-1.1021	10	0.20046	T	0.44	.	9.4899	0.38953	0.2644:0.7356:0.0:0.0	.	145	Q9HC29	NOD2_HUMAN	I	118;118;145	ENSP00000431681:L118I;ENSP00000300589:L145I	ENSP00000300589:L145I	L	+	1	0	NOD2	49291259	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	1.605000	0.36815	2.482000	0.83794	0.591000	0.81541	CTC		0.617	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		A	50733758	C	A	50733758	3	1	440	1	0	0	0	0	1	0	0	0	10517	797	28	3	439	3	NOD2	16	50733758	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	23245922	50733758	39620995	64	24417											
CDH11	1009	genome.wustl.edu	37	16	65005544	65005544	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr16:65005544A>C	ENST00000268603.4	-	11	2195	c.1580T>G	c.(1579-1581)tTt>tGt	p.F527C	CDH11_ENST00000566827.1_Missense_Mutation_p.F401C|CDH11_ENST00000394156.3_Missense_Mutation_p.F527C	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	527	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTGAAGATAAATCTTGGTCC	0.423			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0			16											133	125	128					16																	65005544		2203	4300	6503	63563045	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1580T>G	16.37:g.65005544A>C	ENSP00000268603:p.Phe527Cys		63563045	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182129	0.78677	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.62639	2.04;0.01	5.88	5.88	0.94601	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85265	0.5657	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.87578	0.998;0.75	D	0.89600	0.3834	10	0.87932	D	0	.	15.4635	0.75381	1.0:0.0:0.0:0.0	.	527;527	P55287-2;P55287	.;CAD11_HUMAN	C	527;527;510	ENSP00000268603:F527C;ENSP00000377711:F527C	ENSP00000268603:F527C	F	-	2	0	CDH11	63563045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.896000	0.92521	2.250000	0.74265	0.533000	0.62120	TTT		0.423	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		C	65005544	A	C	65005544	3	2	440	1	0	0	0	0	1	0	0	0	3097	14	1	5	822	5	CDH11	16	65005544	Missense_Mutation	SNP	A	TCGA-61-1914-01A-01W-0639-09	14271786	65005544	25349209	65	24418											
KCTD19	146212	genome.wustl.edu	37	16	67354661	67354661	+	Nonsense_Mutation	SNP	G	G	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr16:67354661G>C	ENST00000304372.5	-	2	186	c.131C>G	c.(130-132)tCa>tGa	p.S44*	RN7SKP118_ENST00000364331.1_RNA|KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	44	BTB 1.				protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGTCAAGGCTGAAGCCTCTTT	0.488																																																0			16											92	89	90					16																	67354661		1912	4126	6038	65912162	SO:0001587	stop_gained	146212			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.131C>G	16.37:g.67354661G>C	ENSP00000305702:p.Ser44*		65912162	B4DZ49|Q8N804	Nonsense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831342	0.91036	.	.	ENSG00000168676	ENST00000304372	.	.	.	6.08	4.06	0.47325	.	0.407531	0.21013	N	0.081646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.0406	9.0387	0.36305	0.1822:0.0:0.8178:0.0	.	.	.	.	X	44	.	ENSP00000305702:S44X	S	-	2	0	KCTD19	65912162	1.000000	0.71417	0.942000	0.38095	0.994000	0.84299	2.918000	0.48829	0.811000	0.34303	0.591000	0.81541	TCA		0.488	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		C	67354661	G	C	67354661	4	2	440	1	0	0	0	0	0	1	0	0	8106	1294	45	3	2709	3	KCTD19	16	67354661	Nonsense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	2349117	67354661	23000092	66	24419											
TMCO7	79613	genome.wustl.edu	37	16	68961577	68961577	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr16:68961577G>A	ENST00000261778.1	+	13	2246	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	745						integral component of membrane (GO:0016021)											GTTGATCTCCGCATCACCATC	0.488																																																0			16											156	155	155					16																	68961577		2059	4228	6287	67519078	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2234G>A	16.37:g.68961577G>A	ENSP00000261778:p.Arg745His		67519078	Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146787	0.94603	.	.	ENSG00000103047	ENST00000261778	T	0.64991	-0.13	5.37	5.37	0.77165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76528	0.4000	M	0.72894	2.215	0.58432	D	0.999996	D	0.89917	1.0	D	0.69142	0.962	T	0.71497	-0.4575	10	0.15952	T	0.53	-2.2007	18.6945	0.91596	0.0:0.0:1.0:0.0	.	745	Q9C0B7	TMCO7_HUMAN	H	745	ENSP00000261778:R745H	ENSP00000261778:R745H	R	+	2	0	TMCO7	67519078	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.219000	0.58561	2.512000	0.84698	0.655000	0.94253	CGC		0.488	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		A	68961577	G	A	68961577	3	1	440	1	0	0	0	0	1	0	0	0	16001	1087	38	1	2284	1	TMCO7	16	68961577	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	1606916	68961577	21393176	67	24420											
HYDIN	54768	genome.wustl.edu	37	16	70926290	70926290	+	Missense_Mutation	SNP	C	C	T	rs375151457		TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr16:70926290C>T	ENST00000393567.2	-	56	9541	c.9391G>A	c.(9391-9393)Gag>Aag	p.E3131K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3131					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCTGGTGCTCAATCTTCACT	0.483																																																0			16											74	85	81					16																	70926290		1859	4089	5948	69483791	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9391G>A	16.37:g.70926290C>T	ENSP00000377197:p.Glu3131Lys		69483791	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	6.272	0.418378	0.11870	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00730	5.77	4.85	4.85	0.62838	.	0.488214	0.14653	U	0.306497	T	0.00580	0.0019	N	0.12502	0.225	0.22675	N	0.998866	B	0.19935	0.04	B	0.25405	0.06	T	0.43798	-0.9369	10	0.02654	T	1	.	10.7514	0.46211	0.0:0.9089:0.0:0.0911	.	3130	F8WD23	.	K	3131;3130	ENSP00000377197:E3131K	ENSP00000313052:E3130K	E	-	1	0	HYDIN	69483791	0.751000	0.28327	0.691000	0.30163	0.794000	0.44872	2.894000	0.48640	2.244000	0.73946	0.430000	0.28490	GAG		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70926290	C	T	70926290	3	4	440	1	0	0	0	0	1	0	0	0	7467	835	29	2	6098	2	HYDIN	16	70926290	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	1964713	70926290	19428463	68	24421											
GLG1	2734	genome.wustl.edu	37	16	74502931	74502931	+	Silent	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr16:74502931G>A	ENST00000422840.2	-	17	2348	c.2349C>T	c.(2347-2349)acC>acT	p.T783T	GLG1_ENST00000205061.5_Silent_p.T783T|GLG1_ENST00000447066.2_Silent_p.T772T	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	783					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CATTGCGCACGGTCGTGCTCA	0.622																																																0			16											63	55	58					16																	74502931		2198	4300	6498	73060432	SO:0001819	synonymous_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2349C>T	16.37:g.74502931G>A			73060432	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	CCDS45527.1																																																																																				0.622	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		A	74502931	G	A	74502931	2	1	440	1	0	0	0	0	0	0	0	1	6436	1103	39	1		1	GLG1	16	74502931	Silent	SNP	G	TCGA-61-1914-01A-01W-0639-09	3576641	74502931	15851822	69	24422											
TP53	7157	genome.wustl.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr17:7577114C>G	ENST00000269305.4	-	8	1013	c.824G>C	c.(823-825)tGt>tCt	p.C275S	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275S|TP53_ENST00000359597.4_Missense_Mutation_p.C275S|TP53_ENST00000420246.2_Missense_Mutation_p.C275S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C275S	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	AGGACAGGCACAAACACGCAC	0.552		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"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	17	GRCh37	CM076568|CM951234	TP53	M							71	61	64					17																	7577114		2203	4300	6503	7517839	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.824G>C	17.37:g.7577114C>G	ENSP00000269305:p.Cys275Ser		7517839	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759306	0.89932	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	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	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.991;0.999;0.987;0.987	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	275;275;275;275;275;264;143	ENSP00000352610:C275S;ENSP00000269305:C275S;ENSP00000398846:C275S;ENSP00000391127:C275S;ENSP00000391478:C275S;ENSP00000425104:C143S	ENSP00000269305:C275S	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7577114	C	G	7577114	3	3	440	1	0	0	0	0	1	0	0	0	16381	478	17	3	462	3	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09		7577114	73618096	70	24423											
LIG3	3980	genome.wustl.edu	37	17	33328331	33328331	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr17:33328331C>A	ENST00000378526.4	+	17	2520	c.2387C>A	c.(2386-2388)aCa>aAa	p.T796K	LIG3_ENST00000262327.5_Missense_Mutation_p.T796K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	796					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GAGGCTCATACAGCTGACGGG	0.522								Other BER factors																																								0			17											91	83	85					17																	33328331		2203	4300	6503	30352444	SO:0001583	missense	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2387C>A	17.37:g.33328331C>A	ENSP00000367787:p.Thr796Lys		30352444	Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	34	5.299389	0.95574	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.63580	-0.05;-0.05	5.97	5.97	0.96955	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.091723	0.85682	D	0.000000	T	0.72890	0.3517	L	0.43646	1.37	0.58432	D	0.999992	D;D	0.65815	0.995;0.995	D;D	0.70935	0.971;0.971	T	0.65348	-0.6190	10	0.23302	T	0.38	-13.567	19.4162	0.94700	0.0:1.0:0.0:0.0	.	796;796	P49916;E5KLB6	DNLI3_HUMAN;.	K	796	ENSP00000367787:T796K;ENSP00000262327:T796K	ENSP00000262327:T796K	T	+	2	0	LIG3	30352444	1.000000	0.71417	0.390000	0.26220	0.980000	0.70556	7.276000	0.78559	2.837000	0.97791	0.655000	0.94253	ACA		0.522	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		A	33328331	C	A	33328331	3	1	440	1	0	0	0	0	1	0	0	0	8782	478	17	3	2449	3	LIG3	17	33328331	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	25751217	33328331	47866879	71	24424											
TADA2A	6871	genome.wustl.edu	37	17	35836996	35836996	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr17:35836996C>T	ENST00000394395.2	+	16	1414	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	TADA2A_ENST00000225396.6_Missense_Mutation_p.A414V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	414	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTAAGACTGGCGCAGGCAAGA	0.443																																																0			17											176	179	178					17																	35836996		2203	4300	6503	32911109	SO:0001583	missense	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1241C>T	17.37:g.35836996C>T	ENSP00000377918:p.Ala414Val		32911109	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608831	0.96637	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.44881	0.91;0.91	5.93	5.93	0.95920	Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.68447	-0.5406	10	0.39692	T	0.17	-12.528	20.3398	0.98759	0.0:1.0:0.0:0.0	.	414	O75478	TAD2A_HUMAN	V	414;313;414	ENSP00000377918:A414V;ENSP00000225396:A414V	ENSP00000225396:A414V	A	+	2	0	TADA2A	32911109	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.629000	0.83207	2.811000	0.96726	0.557000	0.71058	GCG		0.443	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		T	35836996	C	T	35836996	3	4	440	1	0	0	0	0	1	0	0	0	15510	768	27	1	1394	1	TADA2A	17	35836996	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	2508665	35836996	45358214	72	24425											
HNF1B	6928	genome.wustl.edu	37	17	36059179	36059179	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr17:36059179G>A	ENST00000225893.4	-	8	1917	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L	HNF1B_ENST00000561193.1_Missense_Mutation_p.P493L|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	519					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ATACTGGGGGGGTTCCTGCTT	0.512																																					Colon(71;102 1179 9001 27917 43397)											0			17											104	93	97					17																	36059179		2203	4300	6503	33133292	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1556C>T	17.37:g.36059179G>A	ENSP00000225893:p.Pro519Leu		33133292	B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356842	0.82243	.	.	ENSG00000108753	ENST00000225893;ENST00000539087	D	0.96992	-4.2	5.87	5.87	0.94306	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.049561	0.85682	D	0.000000	D	0.96956	0.9006	L	0.53249	1.67	0.80722	D	1	P;D	0.63880	0.786;0.993	P;P	0.58620	0.588;0.842	D	0.95546	0.8616	10	0.32370	T	0.25	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	493;519	E0YMJ6;P35680	.;HNF1B_HUMAN	L	519;407	ENSP00000225893:P519L	ENSP00000225893:P519L	P	-	2	0	HNF1B	33133292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.725000	0.74752	2.941000	0.99782	0.655000	0.94253	CCC		0.512	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		A	36059179	G	A	36059179	3	1	440	1	0	0	0	0	1	0	0	0	7252	1232	43	2	125	2	HNF1B	17	36059179	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	222183	36059179	45136031	73	24426											
BRCA1	672	genome.wustl.edu	37	17	41246127	41246127	+	Nonsense_Mutation	SNP	A	A	C	rs80357490		TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr17:41246127A>C	ENST00000357654.3	-	10	1539	c.1421T>G	c.(1420-1422)tTa>tGa	p.L474*	BRCA1_ENST00000471181.2_Nonsense_Mutation_p.L474*|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.L427*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.L474*|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.L474*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.L178*|BRCA1_ENST00000468300.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	474					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TACATGGCTTAAGTTGGGGAG	0.363			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17	GRCh37	CM021505	BRCA1	M	rs80357490						128	127	127					17																	41246127		2203	4300	6503	38499653	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1421T>G	17.37:g.41246127A>C	ENSP00000350283:p.Leu474*		38499653	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	A	9.027	0.986385	0.18889	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	.	.	.	4.44	3.36	0.38483	.	0.506969	0.16702	N	0.203087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1175	4.8722	0.13639	0.7479:0.0:0.0888:0.1634	.	.	.	.	X	474;474;474;474;178;474;427;474;448	.	ENSP00000310938:L178X	L	-	2	0	BRCA1	38499653	0.233000	0.23772	0.230000	0.23976	0.179000	0.23085	1.814000	0.38972	0.851000	0.35264	0.379000	0.24179	TTA		0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		C	41246127	A	C	41246127	4	2	440	1	0	0	0	0	0	1	0	0	1498	372	13	5	4296	5	BRCA1	17	41246127	Nonsense_Mutation	SNP	A	TCGA-61-1914-01A-01W-0639-09	5186948	41246127	39949083	74	24427											
MPP2	4355	genome.wustl.edu	37	17	41959847	41959847	+	Silent	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr17:41959847C>T	ENST00000461854.1	-	7	643	c.558G>A	c.(556-558)ctG>ctA	p.L186L	MPP2_ENST00000523501.1_Silent_p.L151L|MPP2_ENST00000377184.3_Silent_p.L179L|MPP2_ENST00000536246.1_Silent_p.L151L|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Silent_p.L207L|MPP2_ENST00000269095.4_Silent_p.L162L|MPP2_ENST00000520305.1_Silent_p.L23L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	186	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GCGCGATCACCAGCTCGCCGC	0.582																																																0			17											56	56	56					17																	41959847		2203	4300	6503	39315373	SO:0001819	synonymous_variant	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.558G>A	17.37:g.41959847C>T			39315373	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37																																																																																					0.582	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		T	41959847	C	T	41959847	2	4	440	1	0	0	0	0	0	0	0	1	9734	581	21	2		2	MPP2	17	41959847	Silent	SNP	C	TCGA-61-1914-01A-01W-0639-09	713720	41959847	39235363	75	24428											
ITGA2B	3674	genome.wustl.edu	37	17	42456063	42456063	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr17:42456063C>T	ENST00000262407.5	-	19	1925	c.1894G>A	c.(1894-1896)Gac>Aac	p.D632N	ITGA2B_ENST00000353281.4_Missense_Mutation_p.D632N	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	632					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TCCCCACAGTCCAGGACGATT	0.562																																																0			17											73	50	57					17																	42456063		2189	4279	6468	39811589	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1894G>A	17.37:g.42456063C>T	ENSP00000262407:p.Asp632Asn		39811589	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588228	0.28357	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.49720	0.77;0.77	4.68	3.71	0.42584	Integrin alpha-2 (1);	0.000000	0.35936	U	0.002889	T	0.49423	0.1556	M	0.81179	2.53	0.80722	D	1	P;P	0.42620	0.567;0.785	B;B	0.40444	0.293;0.329	T	0.54009	-0.8357	10	0.46703	T	0.11	.	10.3732	0.44066	0.0:0.9036:0.0:0.0964	.	230;632	Q59FA8;P08514	.;ITA2B_HUMAN	N	632	ENSP00000262407:D632N;ENSP00000340536:D632N	ENSP00000262407:D632N	D	-	1	0	ITGA2B	39811589	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	4.771000	0.62318	1.187000	0.43000	0.591000	0.81541	GAC		0.562	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			T	42456063	C	T	42456063	3	4	440	1	0	0	0	0	1	0	0	0	7876	855	30	2	1273	2	ITGA2B	17	42456063	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	496216	42456063	38739147	76	24429											
ST6GALNAC1	55808	genome.wustl.edu	37	17	74625437	74625437	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr17:74625437G>A	ENST00000156626.7	-	2	687	c.488C>T	c.(487-489)aCg>aTg	p.T163M	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	163					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TCCTTGGGTCGTCTTTGTGTC	0.577																																																0			17											183	161	169					17																	74625437		2203	4300	6503	72137032	SO:0001583	missense	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.488C>T	17.37:g.74625437G>A	ENSP00000156626:p.Thr163Met		72137032	Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	4.683	0.126979	0.08931	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.23754	1.91;1.89	3.53	-2.1	0.07210	.	1.598150	0.03343	N	0.194990	T	0.10252	0.0251	N	0.11201	0.11	0.09310	N	1	B	0.31752	0.338	B	0.14023	0.01	T	0.10019	-1.0648	10	0.30854	T	0.27	-1.8425	1.7992	0.03068	0.4498:0.1351:0.2776:0.1375	.	163	Q9NSC7	SIA7A_HUMAN	M	163	ENSP00000156626:T163M;ENSP00000351991:T163M	ENSP00000156626:T163M	T	-	2	0	ST6GALNAC1	72137032	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.563000	0.05943	-0.358000	0.08162	-0.658000	0.03865	ACG		0.577	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		A	74625437	G	A	74625437	3	1	440	1	0	0	0	0	1	0	0	0	15225	1145	40	1	1346	1	ST6GALNAC1	17	74625437	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	32169374	74625437	6569773	77	24430											
MRO	83876	genome.wustl.edu	37	18	48331562	48331562	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr18:48331562T>G	ENST00000428869.2	-	6	649	c.391A>C	c.(391-393)Ata>Cta	p.I131L	MRO_ENST00000436348.2_Missense_Mutation_p.I145L|MRO_ENST00000256425.2_Missense_Mutation_p.I131L|MRO_ENST00000431965.2_Missense_Mutation_p.I145L|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000398439.3_Missense_Mutation_p.I131L|MRO_ENST00000588444.1_Missense_Mutation_p.I131L			Q9BYG7	MSTRO_HUMAN	maestro	131						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GTGATATCTATGAAGAAGGAA	0.408																																																0			18											122	111	115					18																	48331562		2203	4300	6503	46585560	SO:0001583	missense	83876			AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"maestro heat-like repeat containing"	24121	protein-coding gene	gene with protein product	"B29 protein", "beside the Ma29 deletion"	608080	"chromosome 18 open reading frame 3"	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.391A>C	18.37:g.48331562T>G	ENSP00000409509:p.Ile131Leu		46585560	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	CCDS11947.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866282	0.32977	.	.	ENSG00000134042	ENST00000436348;ENST00000431965;ENST00000428869;ENST00000398439;ENST00000256425	T;T;T;T;T	0.63580	-0.05;2.21;1.49;1.49;1.49	5.71	-4.35	0.03656	Armadillo-like helical (1);Armadillo-type fold (1);	0.977251	0.08384	N	0.954057	T	0.51295	0.1666	L	0.59912	1.85	0.30890	N	0.730444	B;P;B;B	0.35656	0.193;0.514;0.128;0.02	B;B;B;B	0.32724	0.09;0.151;0.067;0.03	T	0.48948	-0.8989	10	0.12430	T	0.62	-25.0257	12.8589	0.57901	0.0:0.5898:0.0:0.4102	.	131;145;145;131	E9PFU2;E9PBI3;E9PAT5;Q9BYG7	.;.;.;MSTRO_HUMAN	L	145;145;131;131;131	ENSP00000397900:I145L;ENSP00000392614:I145L;ENSP00000409509:I131L;ENSP00000381465:I131L;ENSP00000256425:I131L	ENSP00000256425:I131L	I	-	1	0	MRO	46585560	0.116000	0.22171	0.721000	0.30653	0.519000	0.34347	-0.683000	0.05179	-1.091000	0.03065	0.455000	0.32223	ATA		0.408	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		G	48331562	T	G	48331562	3	3	440	1	0	0	0	0	1	0	0	0	9772	1464	51	5	371	5	MRO	18	48331562	Missense_Mutation	SNP	T	TCGA-61-1914-01A-01W-0639-09		48331562	29745686	78	24431											
UBXN6	80700	genome.wustl.edu	37	19	4452483	4452483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr19:4452483C>A	ENST00000301281.6	-	4	443	c.319G>T	c.(319-321)Gag>Tag	p.E107*	UBXN6_ENST00000394765.3_Nonsense_Mutation_p.E54*|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	107						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTCTGGGCTCAGATACCTGG	0.657																																																0			19											53	47	49					19																	4452483		2203	4300	6503	4403483	SO:0001587	stop_gained	80700			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.319G>T	19.37:g.4452483C>A	ENSP00000301281:p.Glu107*		4403483	D6W626|Q96AH1|Q96IK9|Q9BZV0	Nonsense_Mutation	SNP	ENST00000301281.6	37	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850133	0.71719	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	.	.	.	4.79	1.47	0.22746	.	0.654660	0.15544	N	0.256796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-29.485	5.0423	0.14465	0.0:0.4824:0.3318:0.1857	.	.	.	.	X	107;54	.	ENSP00000301281:E107X	E	-	1	0	UBXN6	4403483	0.017000	0.18338	0.012000	0.15200	0.014000	0.08584	1.438000	0.35002	0.453000	0.26858	-0.458000	0.05436	GAG		0.657	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		A	4452483	C	A	4452483	4	1	440	1	0	0	0	0	0	1	0	0	16917	835	29	3	1038	3	UBXN6	19	4452483	Nonsense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09		4452483	54676500	79	24432											
CARM1	10498	genome.wustl.edu	37	19	11022931	11022931	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr19:11022931C>G	ENST00000327064.4	+	5	820	c.630C>G	c.(628-630)atC>atG	p.I210M	CARM1_ENST00000344150.4_Missense_Mutation_p.I210M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	210	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CACGGAAAATCTACGCGGTGG	0.642																																																0			19											247	207	221					19																	11022931		2203	4300	6503	10883931	SO:0001583	missense	10498			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.630C>G	19.37:g.11022931C>G	ENSP00000325690:p.Ile210Met		10883931	A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218055	0.58560	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.26067	1.76;1.76	5.35	4.31	0.51392	.	0.064498	0.64402	D	0.000010	T	0.34308	0.0893	L	0.60455	1.87	0.38430	D	0.946419	P	0.35208	0.49	P	0.46389	0.515	T	0.31475	-0.9942	10	0.87932	D	0	-4.6263	8.0556	0.30604	0.0:0.7522:0.1605:0.0873	.	210	Q86X55	CARM1_HUMAN	M	210	ENSP00000325690:I210M;ENSP00000340934:I210M	ENSP00000325690:I210M	I	+	3	3	CARM1	10883931	1.000000	0.71417	0.980000	0.43619	0.938000	0.57974	0.780000	0.26760	1.227000	0.43598	0.655000	0.94253	ATC		0.642	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		G	11022931	C	G	11022931	3	3	440	1	0	0	0	0	1	0	0	0	2655	903	32	3	648	3	CARM1	19	11022931	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	6570448	11022931	48106052	80	24433											
CARM1	10498	genome.wustl.edu	37	19	11030271	11030271	+	Splice_Site	SNP	G	G	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr19:11030271G>A	ENST00000327064.4	+	9	1211	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	CARM1_ENST00000344150.4_Splice_Site_p.D341N	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	341	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCTCTCCCAGGACACATTTGA	0.582																																																0			19											93	75	81					19																	11030271		2203	4300	6503	10891271	SO:0001630	splice_region_variant	10498			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1021-1G>A	19.37:g.11030271G>A			10891271	A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133547	0.94517	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.22945	1.93;1.93	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	M	0.88377	2.95	0.80722	D	1	D;B	0.89917	1.0;0.356	D;B	0.83275	0.996;0.344	T	0.65981	-0.6036	9	.	.	.	-8.2903	16.4257	0.83814	0.0:0.0:1.0:0.0	.	341;341	Q86X55-1;Q86X55	.;CARM1_HUMAN	N	341	ENSP00000325690:D341N;ENSP00000340934:D341N	.	D	+	1	0	CARM1	10891271	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.968000	0.93407	2.469000	0.83416	0.563000	0.77884	GAC		0.582	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719	Missense_Mutation	A	11030271	G	A	11030271	5	1	440	1	0	0	0	0	0	0	1	0	2655	1188	41	2	1055	2	CARM1	19	11030271	Splice_Site	SNP	G	TCGA-61-1914-01A-01W-0639-09	7340	11030271	48098712	81	24434											
MAP4K1	11184	genome.wustl.edu	37	19	39101704	39101704	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr19:39101704G>T	ENST00000591517.1	-	11	825	c.797C>A	c.(796-798)aCc>aAc	p.T266N	MAP4K1_ENST00000589002.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.T266N|MAP4K1_ENST00000589130.1_Missense_Mutation_p.T262N|MAP4K1_ENST00000586296.1_Missense_Mutation_p.T266N|MAP4K1_ENST00000423454.2_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGCATCTTGGTGGCGCTGGG	0.537																																																0			19											111	125	120					19																	39101704		1990	4168	6158	43793544	SO:0001583	missense	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.797C>A	19.37:g.39101704G>T	ENSP00000465039:p.Thr266Asn		43793544		Missense_Mutation	SNP	ENST00000591517.1	37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	13.81	2.348652	0.41599	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.65178	-0.14	4.27	3.24	0.37175	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.404731	0.24191	N	0.040704	T	0.54431	0.1858	L	0.41492	1.28	0.80722	D	1	P;P	0.42584	0.531;0.784	B;B	0.42522	0.201;0.39	T	0.57991	-0.7715	10	0.72032	D	0.01	.	10.83	0.46654	0.0944:0.0:0.9055:0.0	.	266;266	Q92918-2;Q92918	.;M4K1_HUMAN	N	266	ENSP00000380066:T266N	ENSP00000221409:T266N	T	-	2	0	MAP4K1	43793544	0.989000	0.36119	1.000000	0.80357	0.942000	0.58702	1.933000	0.40153	1.015000	0.39444	0.555000	0.69702	ACC		0.537	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		T	39101704	G	T	39101704	3	4	440	1	0	0	0	0	1	0	0	0	9259	1261	44	3	1854	3	MAP4K1	19	39101704	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	28071433	39101704	20027279	82	24435											
NLRP5	126206	genome.wustl.edu	37	19	56565058	56565058	+	Silent	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr19:56565058C>T	ENST00000390649.3	+	13	3183	c.3183C>T	c.(3181-3183)atC>atT	p.I1061I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1061					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGTGTGATCTCGAGGAGCA	0.572																																																0			19											83	84	84					19																	56565058		2097	4218	6315	61256870	SO:0001819	synonymous_variant	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3183C>T	19.37:g.56565058C>T			61256870	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																				0.572	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56565058	C	T	56565058	2	4	440	1	0	0	0	0	0	0	0	1	10480	903	32	2		2	NLRP5	19	56565058	Silent	SNP	C	TCGA-61-1914-01A-01W-0639-09	17463354	56565058	2563925	83	24436											
HNF4A	3172	genome.wustl.edu	37	20	43034734	43034734	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr20:43034734C>G	ENST00000316099.4	+	2	241	c.152C>G	c.(151-153)cCc>cGc	p.P51R	HNF4A_ENST00000609795.1_Missense_Mutation_p.P29R|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Missense_Mutation_p.P51R|HNF4A_ENST00000316673.4_Missense_Mutation_p.P29R|HNF4A_ENST00000415691.2_Missense_Mutation_p.P51R|HNF4A_ENST00000457232.1_Missense_Mutation_p.P29R	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	51					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTCAACGCGCCCAACAGCCTG	0.622																																					Colon(79;2 1269 8820 14841 52347)											0			20											137	136	136					20																	43034734		2203	4300	6503	42468148	SO:0001583	missense	3172			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.152C>G	20.37:g.43034734C>G	ENSP00000312987:p.Pro51Arg		42468148	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	c	17.88	3.498104	0.64186	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.93307	-3.17;-3.16;-3.14;-3.2;-3.12	5.17	5.17	0.71159	.	0.771995	0.12775	N	0.440156	D	0.87617	0.6222	N	0.14661	0.345	0.32263	N	0.569876	B;B;B;B;B;B;P	0.36909	0.19;0.105;0.105;0.419;0.286;0.409;0.573	B;B;B;B;B;B;B	0.38327	0.058;0.042;0.042;0.189;0.14;0.271;0.142	D	0.88007	0.2760	10	0.44086	T	0.13	.	12.1226	0.53900	0.0:0.9217:0.0:0.0783	.	44;51;51;51;29;29;29	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	R	29;29;51;51;81;51	ENSP00000315180:P29R;ENSP00000396216:P29R;ENSP00000312987:P51R;ENSP00000410911:P51R;ENSP00000412111:P51R	ENSP00000312987:P51R	P	+	2	0	HNF4A	42468148	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	5.629000	0.67798	2.414000	0.81942	0.645000	0.84053	CCC		0.622	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			G	43034734	C	G	43034734	3	3	440	1	0	0	0	0	1	0	0	0	7253	623	22	3	211	3	HNF4A	20	43034734	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09		43034734	19990786	84	24437											
MC3R	4159	genome.wustl.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr20:54824818C>T	ENST00000243911.2	+	1	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517																																																1	Substitution - Missense(1)	breast(1)	20											171	162	165					20																	54824818		2203	4300	6503	54258225	SO:0001583	missense	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.919C>T	20.37:g.54824818C>T	ENSP00000243911:p.Arg307Cys		54258225	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967174	0.34754	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	3.06	0.35304	.	0.000000	0.64402	D	0.000014	T	0.80989	0.4730	H	0.97440	4.005	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.85842	0.1398	10	0.87932	D	0	.	13.1951	0.59734	0.4134:0.5866:0.0:0.0	.	344	P41968	MC3R_HUMAN	C	307	ENSP00000243911:R307C	ENSP00000243911:R307C	R	+	1	0	MC3R	54258225	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	2.103000	0.41806	0.477000	0.27464	0.555000	0.69702	CGC		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			T	54824818	C	T	54824818	3	4	440	1	0	0	0	0	1	0	0	0	9365	768	27	1	921	1	MC3R	20	54824818	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	11790084	54824818	8200702	85	24438											
NRIP1	8204	genome.wustl.edu	37	21	16337429	16337429	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr21:16337429G>C	ENST00000400202.1	-	3	3797	c.3085C>G	c.(3085-3087)Ctt>Gtt	p.L1029V	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.L1029V|NRIP1_ENST00000318948.4_Missense_Mutation_p.L1029V			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1029	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CCATTCAAAAGCCCAGATTCT	0.463																																																0			21											55	54	54					21																	16337429		2202	4299	6501	15259300	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3085C>G	21.37:g.16337429G>C	ENSP00000383063:p.Leu1029Val		15259300	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493738	0.26774	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.08458	3.09;3.09;3.09	5.61	4.73	0.59995	.	1.283300	0.05379	N	0.536851	T	0.09905	0.0243	N	0.22421	0.69	0.29804	N	0.832156	B	0.19200	0.034	B	0.24394	0.053	T	0.34453	-0.9828	10	0.35671	T	0.21	-30.4213	14.83	0.70139	0.0691:0.0:0.9309:0.0	.	1029	P48552	NRIP1_HUMAN	V	1029	ENSP00000383060:L1029V;ENSP00000383063:L1029V;ENSP00000327213:L1029V	ENSP00000327213:L1029V	L	-	1	0	NRIP1	15259300	0.896000	0.30565	0.917000	0.36280	0.958000	0.62258	1.928000	0.40104	1.500000	0.48636	0.655000	0.94253	CTT		0.463	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		C	16337429	G	C	16337429	3	2	440	1	0	0	0	0	1	0	0	0	10652	971	34	3	395	3	NRIP1	21	16337429	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09		16337429	31792466	86	24439											
C21orf2	755	genome.wustl.edu	37	21	45751873	45751873	+	Missense_Mutation	SNP	C	C	T	rs144430869		TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr21:45751873C>T	ENST00000339818.4	-	5	605	c.398G>A	c.(397-399)cGt>cAt	p.R133H	AP001062.8_ENST00000422357.1_RNA|C21orf2_ENST00000325223.7_Missense_Mutation_p.R133H|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000397956.3_Missense_Mutation_p.R133H	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	133	LRRCT.				cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		ACTCAGTGCACGGGACAGCTC	0.627																																																0			21						C	HIS/ARG	0,4406		0,0,2203	81	63	69		398	2.5	0.8	21	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C21orf2	NM_004928.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	133/257	45751873	1,13005	2203	4300	6503	44576301	SO:0001583	missense	755			Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.398G>A	21.37:g.45751873C>T	ENSP00000344566:p.Arg133His		44576301	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900279	0.33535	0.0	1.16E-4	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.35421	1.61;1.31;1.64	4.72	2.47	0.30058	.	0.210225	0.40908	D	0.000983	T	0.22085	0.0532	L	0.51422	1.61	0.35542	D	0.803101	B;P;B;P	0.47545	0.324;0.897;0.217;0.672	B;B;B;B	0.32624	0.042;0.149;0.019;0.071	T	0.28870	-1.0030	10	0.44086	T	0.13	-16.1799	4.8398	0.13485	0.0:0.6388:0.0:0.3612	.	133;133;133;92	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	H	133;169;133;133	ENSP00000344566:R133H;ENSP00000381047:R133H;ENSP00000317302:R133H	ENSP00000317302:R133H	R	-	2	0	C21orf2	44576301	0.411000	0.25384	0.814000	0.32528	0.125000	0.20455	1.094000	0.30951	1.117000	0.41842	0.655000	0.94253	CGT		0.627	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		T	45751873	C	T	45751873	3	4	440	1	0	0	0	0	1	0	0	0	2123	536	19	1	384	1	C21orf2	21	45751873	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	29414444	45751873	2378022	87	24440											
RTDR1	27156	genome.wustl.edu	37	22	23476296	23476296	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chr22:23476296A>G	ENST00000216036.4	-	4	534	c.338T>C	c.(337-339)cTg>cCg	p.L113P	AC000029.1_ENST00000408142.1_RNA|Metazoa_SRP_ENST00000606537.1_RNA	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		113										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CAGGAAGGACAGGGCAAGGAC	0.562																																																0			22											144	106	119					22																	23476296		2203	4300	6503	21806296	SO:0001583	missense	27156																														ENST00000216036.4:c.338T>C	22.37:g.23476296A>G	ENSP00000216036:p.Leu113Pro		21806296		Missense_Mutation	SNP	ENST00000216036.4	37	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245674	0.59103	.	.	ENSG00000100218	ENST00000216036	T	0.50813	0.73	5.09	5.09	0.68999	Armadillo-like helical (1);Armadillo-type fold (1);	0.422934	0.23758	N	0.044847	T	0.69324	0.3098	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.73808	-0.3866	10	0.87932	D	0	-16.0757	14.7615	0.69610	1.0:0.0:0.0:0.0	.	134;113	B7Z5X4;Q9UHP6	.;RTDR1_HUMAN	P	113	ENSP00000216036:L113P	ENSP00000216036:L113P	L	-	2	0	RTDR1	21806296	1.000000	0.71417	0.992000	0.48379	0.263000	0.26337	5.450000	0.66626	2.222000	0.72286	0.533000	0.62120	CTG		0.562	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			G	23476296	A	G	23476296	3	3	440	1	0	0	0	0	1	0	0	0	13722	188	7	4	724	4	RTDR1	22	23476296	Missense_Mutation	SNP	A	TCGA-61-1914-01A-01W-0639-09		23476296	27828270	88	24441											
STS	412	genome.wustl.edu	37	X	7268262	7268262	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chrX:7268262A>G	ENST00000217961.4	+	10	1932	c.1712A>G	c.(1711-1713)cAg>cGg	p.Q571R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	571					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CTGTCTTGCCAGTGTGATAGA	0.542									Ichthyosis																																							0			X											32	29	30					X																	7268262		2203	4299	6502	7278262	SO:0001583	missense	412	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1712A>G	X.37:g.7268262A>G	ENSP00000217961:p.Gln571Arg		7278262	B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	A	1.015	-0.686524	0.03328	.	.	ENSG00000101846	ENST00000217961	D	0.89050	-2.46	4.11	0.249	0.15531	Alkaline-phosphatase-like, core domain (1);	0.735396	0.12710	N	0.445604	T	0.81069	0.4746	L	0.39898	1.24	0.23487	N	0.997576	B	0.02656	0.0	B	0.04013	0.001	T	0.62835	-0.6770	10	0.23302	T	0.38	.	7.3802	0.26851	0.7141:0.0:0.2859:0.0	.	571	P08842	STS_HUMAN	R	571	ENSP00000217961:Q571R	ENSP00000217961:Q571R	Q	+	2	0	STS	7278262	0.989000	0.36119	0.056000	0.19401	0.034000	0.12701	1.817000	0.39002	-0.341000	0.08376	0.486000	0.48141	CAG		0.542	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		G	7268262	A	G	7268262	3	3	440	1	0	0	0	0	1	0	0	0	15334	188	7	4	1750	4	STS	23	7268262	Missense_Mutation	SNP	A	TCGA-61-1914-01A-01W-0639-09		7268262	148002298	89	24442											
RPS6KA3	6197	genome.wustl.edu	37	X	20185833	20185833	+	Silent	SNP	T	T	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chrX:20185833T>C	ENST00000379565.3	-	17	1683	c.1476A>G	c.(1474-1476)gtA>gtG	p.V492V	RPS6KA3_ENST00000540702.1_Silent_p.V463V|RPS6KA3_ENST00000544447.1_Silent_p.V464V|RPS6KA3_ENST00000379548.4_Silent_p.V462V|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	492	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TAAGTTCTGTTACTACATACA	0.303																																																0			X											146	155	152					X																	20185833		2203	4300	6503	20095754	SO:0001819	synonymous_variant	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1476A>G	X.37:g.20185833T>C			20095754	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	CCDS14197.1																																																																																				0.303	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		C	20185833	T	C	20185833	2	2	440	1	0	0	0	0	0	0	0	1	13655	1741	61	4		4	RPS6KA3	23	20185833	Silent	SNP	T	TCGA-61-1914-01A-01W-0639-09	12917571	20185833	135084727	90	24443											
CAPN6	827	genome.wustl.edu	37	X	110494210	110494210	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chrX:110494210C>T	ENST00000324068.1	-	8	1260	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	CAPN6_ENST00000541758.1_Missense_Mutation_p.D110N	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	365	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATCAGGGGATCATCATCCACA	0.473																																																0			X											306	269	282					X																	110494210		2203	4300	6503	110380866	SO:0001583	missense	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1093G>A	X.37:g.110494210C>T	ENSP00000317214:p.Asp365Asn		110380866	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995347	0.93167	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.88509	-2.39;-2.15	5.95	5.95	0.96441	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.347798	0.28730	N	0.014340	D	0.88862	0.6552	L	0.43152	1.355	0.58432	D	0.999999	P	0.40282	0.711	P	0.45343	0.477	D	0.87298	0.2303	10	0.36615	T	0.2	.	19.2764	0.94032	0.0:1.0:0.0:0.0	.	365	Q9Y6Q1	CAN6_HUMAN	N	365;110	ENSP00000317214:D365N;ENSP00000441736:D110N	ENSP00000317214:D365N	D	-	1	0	CAPN6	110380866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.468000	0.80943	2.504000	0.84457	0.600000	0.82982	GAT		0.473	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			T	110494210	C	T	110494210	3	4	440	1	0	0	0	0	1	0	0	0	2630	826	29	2	856	2	CAPN6	23	110494210	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	90308377	110494210	44776350	91	24444											
ATP11C	286410	genome.wustl.edu	37	X	138908964	138908964	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chrX:138908964G>C	ENST00000327569.3	-	2	153	c.55C>G	c.(55-57)Cga>Gga	p.R19G	ATP11C_ENST00000370543.1_Missense_Mutation_p.R19G|ATP11C_ENST00000359686.2_Missense_Mutation_p.R19G|ATP11C_ENST00000370557.1_Missense_Mutation_p.R16G|ATP11C_ENST00000361648.2_Missense_Mutation_p.R19G	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	19					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTGCCAACTCGTTTCTCTTCT	0.398																																																0			X											125	104	111					X																	138908964		2203	4300	6503	138736630	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.55C>G	X.37:g.138908964G>C	ENSP00000332756:p.Arg19Gly		138736630	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157321	0.57259	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	4.93	4.05	0.47172	.	0.071820	0.56097	D	0.000032	T	0.53722	0.1814	L	0.28504	0.86	0.46823	D	0.999214	D;P	0.60160	0.987;0.89	P;P	0.61397	0.888;0.496	T	0.46048	-0.9219	10	0.23302	T	0.38	.	11.3068	0.49340	0.0:0.0:0.8051:0.1949	.	19;19	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	G	16;19;19;19;19	ENSP00000359588:R16G;ENSP00000355165:R19G;ENSP00000332756:R19G;ENSP00000359574:R19G;ENSP00000352715:R19G	ENSP00000332756:R19G	R	-	1	2	ATP11C	138736630	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	1.678000	0.37586	1.156000	0.42514	0.544000	0.68410	CGA		0.398	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		C	138908964	G	C	138908964	3	2	440	1	0	0	0	0	1	0	0	0	1121	1153	40	3	3522	3	ATP11C	23	138908964	Missense_Mutation	SNP	G	TCGA-61-1914-01A-01W-0639-09	28414754	138908964	16361596	92	24445											
CNGA2	1260	genome.wustl.edu	37	X	150912849	150912849	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1914-01A-01W-0639-09	TCGA-61-1914-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	41e59680-da3c-45d9-8a36-59596743d03a	75201ee4-2590-4b96-8bcf-e9e82aa0457d	g.chrX:150912849C>A	ENST00000329903.4	+	6	1907	c.1874C>A	c.(1873-1875)gCc>gAc	p.A625D		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	625					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TACACGGGGGCCCAGCAGAAG	0.547																																																0			X											113	95	101					X																	150912849		2203	4300	6503	150663505	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1874C>A	X.37:g.150912849C>A	ENSP00000328478:p.Ala625Asp		150663505	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011794	0.54468	.	.	ENSG00000183862	ENST00000329903	D	0.97352	-4.35	5.47	5.47	0.80525	.	0.052830	0.85682	D	0.000000	D	0.96386	0.8821	M	0.65498	2.005	0.46336	D	0.998998	P	0.50272	0.933	P	0.44860	0.462	D	0.96687	0.9508	10	0.66056	D	0.02	.	15.561	0.76244	0.0:1.0:0.0:0.0	.	625	Q16280	CNGA2_HUMAN	D	625	ENSP00000328478:A625D	ENSP00000328478:A625D	A	+	2	0	CNGA2	150663505	1.000000	0.71417	0.993000	0.49108	0.856000	0.48823	7.487000	0.81328	2.269000	0.75478	0.600000	0.82982	GCC		0.547	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150912849	C	A	150912849	3	1	440	1	0	0	0	0	1	0	0	0	3597	739	26	3	1896	3	CNGA2	23	150912849	Missense_Mutation	SNP	C	TCGA-61-1914-01A-01W-0639-09	12003885	150912849	4357711	93	24446											
TNFRSF8	943	genome.wustl.edu	37	1	12157161	12157161	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:12157161T>A	ENST00000263932.2	+	3	377	c.155T>A	c.(154-156)cTg>cAg	p.L52Q	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	52					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TTCCCAGGGCTGTTCCCGACA	0.592																																																0			1											88	85	86					1																	12157161		2203	4300	6503	12079748	SO:0001583	missense	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.155T>A	1.37:g.12157161T>A	ENSP00000263932:p.Leu52Gln		12079748	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	CCDS144.1	.	.	.	.	.	.	.	.	.	.	T	6.860	0.527992	0.13127	.	.	ENSG00000120949	ENST00000263932	D	0.90955	-2.76	3.98	-7.96	0.01144	TNFR/CD27/30/40/95 cysteine-rich region (2);	2.760190	0.01700	N	0.027154	T	0.80497	0.4634	L	0.27053	0.805	0.09310	N	0.999998	B	0.29481	0.245	B	0.31946	0.138	T	0.71540	-0.4562	10	0.28530	T	0.3	0.4099	1.2815	0.02042	0.3361:0.1643:0.3406:0.159	.	52	P28908	TNR8_HUMAN	Q	52	ENSP00000263932:L52Q	ENSP00000263932:L52Q	L	+	2	0	TNFRSF8	12079748	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.230000	0.01207	-2.194000	0.00753	-0.313000	0.08912	CTG		0.592	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			A	12157161	T	A	12157161	3	1	441	1	0	0	0	0	1	0	0	0	16299	1580	55	5	165	5	TNFRSF8	1	12157161	Missense_Mutation	SNP	T	TCGA-61-1915-01A-01W-0639-09		12157161	237093460	1	24447											
SNRNP40	9410	genome.wustl.edu	37	1	31764789	31764789	+	Silent	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:31764789C>T	ENST00000263694.4	-	3	354	c.336G>A	c.(334-336)gtG>gtA	p.V112V	SNRNP40_ENST00000446633.2_Silent_p.V112V	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	112					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						GCAATTCCATCACTGCTCCAC	0.448																																																0			1											253	190	211					1																	31764789		2203	4300	6503	31537376	SO:0001819	synonymous_variant	9410			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"WD repeat domain containing"	30857	protein-coding gene	gene with protein product		607797	"WD repeat domain 57 (U5 snRNP specific)"	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.336G>A	1.37:g.31764789C>T			31537376	B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	CCDS340.1																																																																																				0.448	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		T	31764789	C	T	31764789	2	4	441	1	0	0	0	0	0	0	0	1	14859	813	29	2		2	SNRNP40	1	31764789	Silent	SNP	C	TCGA-61-1915-01A-01W-0639-09	19607628	31764789	217485832	2	24448											
ZMYM4	9202	genome.wustl.edu	37	1	35836216	35836216	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:35836216C>T	ENST00000314607.6	+	7	1249	c.1169C>T	c.(1168-1170)tCa>tTa	p.S390L	ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Missense_Mutation_p.S390L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	390					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAACTTGTTCAAGTTGCTCA	0.403																																																0			1											61	60	61					1																	35836216		2203	4300	6503	35608803	SO:0001583	missense	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1169C>T	1.37:g.35836216C>T	ENSP00000322915:p.Ser390Leu		35608803	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059564	0.55325	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.24538	1.88;1.85	5.48	5.48	0.80851	TRASH (1);Zinc finger, MYM-type (1);	0.218024	0.39909	N	0.001221	T	0.25082	0.0609	L	0.43152	1.355	0.35590	D	0.806991	B	0.15473	0.013	B	0.22152	0.038	T	0.15838	-1.0423	10	0.48119	T	0.1	-8.1622	13.6138	0.62094	0.0:0.926:0.0:0.074	.	390	Q5VZL5	ZMYM4_HUMAN	L	390	ENSP00000322915:S390L;ENSP00000362394:S390L	ENSP00000322915:S390L	S	+	2	0	ZMYM4	35608803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.816000	0.48026	2.573000	0.86826	0.591000	0.81541	TCA		0.403	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		T	35836216	C	T	35836216	3	4	441	1	0	0	0	0	1	0	0	0	17702	838	29	2	1195	2	ZMYM4	1	35836216	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	4071427	35836216	213414405	3	24449											
COL9A2	1298	genome.wustl.edu	37	1	40768483	40768484	+	Splice_Site	INS	-	-	GGAG	rs3831927|rs547665409|rs369338511|rs144651070|rs563535301	byFrequency	TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:40768483_40768484insGGAG	ENST00000372748.3	-	30	1700		c.e30-2		COL9A2_ENST00000466267.1_Splice_Site	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGTTGCTCTggagggaggga	0.649																																																0			1																																								40541071	SO:0001630	splice_region_variant	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1604-2->CTCC	1.37:g.40768488_40768491dupGGAG			40541070	B2RMP9	Splice_Site	INS	ENST00000372748.3	37	CCDS450.1																																																																																				0.649	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Intron	GGAG	40768484	-	GGAG	40768483	8	5	441	1	0	1	1	0	0	0	1	0	3708	1594	55	0	479	0	COL9A2	1	40768483	Splice_Site	INS	-	TCGA-61-1915-01A-01W-0639-09	4932267	40768483	208482138	4	24450											
HECTD3	79654	genome.wustl.edu	37	1	45469606	45469606	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:45469606C>A	ENST00000372172.4	-	19	2421	c.2350G>T	c.(2350-2352)Gac>Tac	p.D784Y	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.D394Y	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	784	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CGGCTCCGGTCCTCTGGAGGG	0.607																																																0			1											46	55	52					1																	45469606		2072	4190	6262	45242193	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2350G>T	1.37:g.45469606C>A	ENSP00000361245:p.Asp784Tyr		45242193	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	25.1	4.599300	0.87055	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.46819	0.86;0.86	5.68	4.77	0.60923	HECT (4);	0.044730	0.85682	D	0.000000	T	0.63058	0.2479	M	0.87038	2.855	0.80722	D	1	B;D	0.56968	0.438;0.978	P;P	0.49999	0.613;0.628	T	0.72484	-0.4279	10	0.87932	D	0	.	14.3799	0.66905	0.0:0.9291:0.0:0.0709	.	784;394	Q5T447;Q5T447-2	HECD3_HUMAN;.	Y	784;394	ENSP00000361245:D784Y;ENSP00000361241:D394Y	ENSP00000361241:D394Y	D	-	1	0	HECTD3	45242193	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.485000	0.81204	1.407000	0.46875	0.544000	0.68410	GAC		0.607	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		A	45469606	C	A	45469606	3	1	441	1	0	0	0	0	1	0	0	0	7041	855	30	3	247	3	HECTD3	1	45469606	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	4701123	45469606	203781015	5	24451											
ZNF687	57592	genome.wustl.edu	37	1	151259480	151259491	+	In_Frame_Del	DEL	GCTCAGGCTCCA	GCTCAGGCTCCA	-			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	GCTCAGGCTCCA	GCTCAGGCTCCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:151259480_151259491delGCTCAGGCTCCA	ENST00000368879.2	+	2	811_822	c.713_724delGCTCAGGCTCCA	c.(712-726)ggctcaggctccagc>ggc	p.SGSS239del		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	239	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCAACAAGGCTCAGGCTCCAGCCCTAAGGC	0.637																																																0			1																																								149526115	SO:0001651	inframe_deletion	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.713_724delGCTCAGGCTCCA	1.37:g.151259480_151259491delGCTCAGGCTCCA	ENSP00000357874:p.Ser239_Ser242del		149526104	D3DV17|Q68DQ8|Q9H937|Q9P2A7	In_Frame_Del	DEL	ENST00000368879.2	37																																																																																					0.637	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		-	151259491	GCTCAGGCTCCA	-	151259480	7	5	441	1	0	1	0	1	0	0	0	0	18092	1203	42	0	715	0	ZNF687	1	151259480	In_Frame_Del	DEL	GCTCAGGCTCCA	TCGA-61-1915-01A-01W-0639-09	105789874	151259480	97991141	6	24452											
CHRNB2	1141	genome.wustl.edu	37	1	154544393	154544393	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:154544393G>A	ENST00000368476.3	+	5	1358	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	365					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.R365Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CGCCTGCGGCGACGCCAGCGT	0.706																																																1	Substitution - Missense(1)	skin(1)	1											11	8	9					1																	154544393		2157	4209	6366	152811017	SO:0001583	missense	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1094G>A	1.37:g.154544393G>A	ENSP00000357461:p.Arg365Gln		152811017	Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281146	0.23392	.	.	ENSG00000160716	ENST00000368476	D	0.85339	-1.97	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.438446	0.24766	N	0.035763	T	0.60196	0.2250	N	0.17764	0.52	0.31474	N	0.668051	P	0.47545	0.897	B	0.39503	0.301	T	0.60342	-0.7282	10	0.13108	T	0.6	.	15.8078	0.78527	0.0:0.0:1.0:0.0	.	365	P17787	ACHB2_HUMAN	Q	365	ENSP00000357461:R365Q	ENSP00000357461:R365Q	R	+	2	0	CHRNB2	152811017	0.000000	0.05858	0.029000	0.17559	0.032000	0.12392	0.622000	0.24433	2.024000	0.59613	0.313000	0.20887	CGA		0.706	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		A	154544393	G	A	154544393	3	1	441	1	0	0	0	0	1	0	0	0	3391	1058	37	1	1112	1	CHRNB2	1	154544393	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	3284913	154544393	94706228	7	24453											
SYT11	23208	genome.wustl.edu	37	1	155837924	155837924	+	Missense_Mutation	SNP	C	C	A	rs371162872		TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:155837924C>A	ENST00000368324.4	+	2	456	c.203C>A	c.(202-204)aCc>aAc	p.T68N	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	68					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TACCCAGAGACCCTCAGCAAC	0.502																																																0			1						C	ASN/THR	0,4406		0,0,2203	154	140	145		203	5.8	1	1		145	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT11	NM_152280.4	65	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging	68/432	155837924	1,13005	2203	4300	6503	154104548	SO:0001583	missense	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.203C>A	1.37:g.155837924C>A	ENSP00000357307:p.Thr68Asn		154104548	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	C	5.318	0.244058	0.10077	0.0	1.16E-4	ENSG00000132718	ENST00000368324	T	0.42513	0.97	5.76	5.76	0.90799	.	0.112533	0.64402	D	0.000008	T	0.10380	0.0254	N	0.08118	0	0.80722	D	1	P	0.38922	0.651	B	0.30251	0.113	T	0.10268	-1.0637	10	0.19147	T	0.46	.	15.095	0.72226	0.0:0.8586:0.1414:0.0	.	68	Q9BT88	SYT11_HUMAN	N	68	ENSP00000357307:T68N	ENSP00000357307:T68N	T	+	2	0	SYT11	154104548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.902000	0.63266	2.718000	0.92993	0.655000	0.94253	ACC		0.502	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		A	155837924	C	A	155837924	3	1	441	1	0	0	0	0	1	0	0	0	15467	507	18	3	209	3	SYT11	1	155837924	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	1293531	155837924	93412697	8	24454											
USH2A	7399	genome.wustl.edu	37	1	216420003	216420003	+	Silent	SNP	G	G	T	rs375996450		TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:216420003G>T	ENST00000307340.3	-	13	3119	c.2733C>A	c.(2731-2733)acC>acA	p.T911T	USH2A_ENST00000366943.2_Silent_p.T911T|USH2A_ENST00000366942.3_Silent_p.T911T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	911	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.		T -> N (in RP39; unknown pathological significance). {ECO:0000269|PubMed:15325563}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTCACAAATGGTCCCAGGTA	0.443										HNSCC(13;0.011)																																						0			1											204	191	196					1																	216420003		2203	4300	6503	214486626	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2733C>A	1.37:g.216420003G>T			214486626	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216420003	G	T	216420003	2	4	441	1	0	0	0	0	0	0	0	1	17036	1335	47	3		3	USH2A	1	216420003	Silent	SNP	G	TCGA-61-1915-01A-01W-0639-09	60582079	216420003	32830618	9	24455											
EXOC8	149371	genome.wustl.edu	37	1	231471869	231471869	+	Silent	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:231471869G>A	ENST00000360394.2	-	1	1709	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'Flank|EXOC8_ENST00000366645.1_Silent_p.F537F|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	541					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CATGGATGATGAAGGTGAGAT	0.463																																																0			1											126	109	115					1																	231471869		2203	4300	6503	229538492	SO:0001819	synonymous_variant	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1623C>T	1.37:g.231471869G>A			229538492	B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	CCDS1593.1																																																																																				0.463	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		A	231471869	G	A	231471869	2	1	441	1	0	0	0	0	0	0	0	1	5311	1281	45	2		2	EXOC8	1	231471869	Silent	SNP	G	TCGA-61-1915-01A-01W-0639-09	15051866	231471869	17778752	10	24456											
RYR2	6262	genome.wustl.edu	37	1	237870248	237870248	+	Splice_Site	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr1:237870248G>A	ENST00000366574.2	+	68	9897		c.e68-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000609119.1_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACTTCTCCAGCTCTCAGTTT	0.388																																																0			1											101	100	100					1																	237870248		1877	4123	6000	235936871	SO:0001630	splice_region_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9581-1G>A	1.37:g.237870248G>A			235936871	Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507224	0.85282	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5784	0.95453	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235936871	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.414000	0.97362	2.706000	0.92434	0.650000	0.86243	.		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	A	237870248	G	A	237870248	5	1	441	1	0	0	0	0	0	0	1	0	13772	985	34	2	9850	2	RYR2	1	237870248	Splice_Site	SNP	G	TCGA-61-1915-01A-01W-0639-09	6398379	237870248	11380373	11	24457											
EFEMP1	2202	genome.wustl.edu	37	2	56145357	56145357	+	Nonsense_Mutation	SNP	T	T	A	rs371658999		TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr2:56145357T>A	ENST00000394555.2	-	3	562	c.127A>T	c.(127-129)Aaa>Taa	p.K43*	EFEMP1_ENST00000394554.1_Nonsense_Mutation_p.K43*|EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000355426.3_Nonsense_Mutation_p.K43*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	43	EGF-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGCTCACCTTTGCATTGCTGT	0.463																																					GBM(92;934 1319 7714 28760 40110)											0			2											212	180	191					2																	56145357		2203	4300	6503	55998861	SO:0001587	stop_gained	2202			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.127A>T	2.37:g.56145357T>A	ENSP00000378058:p.Lys43*		55998861	A8K3I4|B4DW75|D6W5D2|Q541U7	Nonsense_Mutation	SNP	ENST00000394555.2	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	T	39	7.445563	0.98289	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000355426;ENST00000438672;ENST00000439193;ENST00000440439;ENST00000429909;ENST00000452337;ENST00000421664	.	.	.	5.41	5.41	0.78517	.	0.087685	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	15.4275	0.75065	0.0:0.0:0.0:1.0	.	.	.	.	X	43	.	ENSP00000347596:K43X	K	-	1	0	EFEMP1	55998861	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.763000	0.68818	2.060000	0.61445	0.460000	0.39030	AAA		0.463	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			A	56145357	T	A	56145357	4	1	441	1	0	0	0	0	0	1	0	0	4941	1821	63	5	1390	5	EFEMP1	2	56145357	Nonsense_Mutation	SNP	T	TCGA-61-1915-01A-01W-0639-09		56145357	187054016	12	24458											
VWA3B	200403	genome.wustl.edu	37	2	98709598	98709598	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr2:98709598C>G	ENST00000477737.1	+	2	247	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.L15V	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	15										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGAGCAGCAGCTGCAGAGGCA	0.458																																																0			2											82	78	79					2																	98709598		1946	4164	6110	98076030	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.43C>G	2.37:g.98709598C>G	ENSP00000417955:p.Leu15Val		98076030	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397996	0.25205	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.59364	0.27;0.27	5.22	3.39	0.38822	.	1.282000	0.05506	N	0.559342	T	0.42539	0.1207	L	0.36672	1.1	0.20196	N	0.999929	P;P	0.38078	0.483;0.617	B;B	0.28011	0.057;0.085	T	0.30937	-0.9961	10	0.32370	T	0.25	.	5.3683	0.16125	0.0:0.6444:0.1763:0.1793	.	15;15	Q502W6;Q502W6-8	VWA3B_HUMAN;.	V	15	ENSP00000401959:L15V;ENSP00000417955:L15V	ENSP00000411168:L15V	L	+	1	2	VWA3B	98076030	0.232000	0.23762	0.490000	0.27465	0.829000	0.46940	0.630000	0.24553	0.850000	0.35239	0.650000	0.86243	CTG		0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		G	98709598	C	G	98709598	3	3	441	1	0	0	0	0	1	0	0	0	17241	796	28	3	45	3	VWA3B	2	98709598	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	42564241	98709598	144489775	13	24459											
SAP130	79595	genome.wustl.edu	37	2	128757702	128757702	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr2:128757702C>T	ENST00000259235.3	-	9	1243	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	SAP130_ENST00000357702.5_Missense_Mutation_p.G372S|SAP130_ENST00000259234.6_Missense_Mutation_p.G346S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	372					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACTGGCGTGCCAGTACTGAAG	0.493																																																0			2											107	107	107					2																	128757702		2203	4300	6503	128474172	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1114G>A	2.37:g.128757702C>T	ENSP00000259235:p.Gly372Ser		128474172	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750563	0.49257	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.79	5.79	0.91817	.	0.160023	0.56097	D	0.000031	T	0.60051	0.2239	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.988;0.999;0.999;0.986	P;D;D;P	0.69479	0.844;0.964;0.935;0.844	T	0.54050	-0.8351	9	0.12766	T	0.61	-14.3038	20.04	0.97581	0.0:1.0:0.0:0.0	.	372;345;372;10	B7ZLM3;Q96DP1;Q9H0E3;B3KRT9	.;.;SP130_HUMAN;.	S	372;372;346	.	ENSP00000259234:G346S	G	-	1	0	SAP130	128474172	1.000000	0.71417	0.990000	0.47175	0.659000	0.38960	7.161000	0.77505	2.733000	0.93635	0.655000	0.94253	GGC		0.493	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		T	128757702	C	T	128757702	3	4	441	1	0	0	0	0	1	0	0	0	13834	594	21	2	2189	2	SAP130	2	128757702	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	30048104	128757702	114441671	14	24460											
TTN	7273	genome.wustl.edu	37	2	179448534	179448534	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr2:179448534T>G	ENST00000591111.1	-	262	60676	c.60452A>C	c.(60451-60453)tAt>tCt	p.Y20151S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y12852S|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y12727S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19224S|TTN_ENST00000342175.6_Missense_Mutation_p.Y12919S|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y21792S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20151	Fibronectin type-III 46. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTACGAAATAGCCAATAAT	0.468																																																0			2											59	58	58					2																	179448534		1907	4114	6021	179156780	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60452A>C	2.37:g.179448534T>G	ENSP00000465570:p.Tyr20151Ser		179156780	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.61	2.587701	0.46110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93096	0.7802	H	0.98577	4.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95578	0.8644	9	0.87932	D	0	.	16.7021	0.85357	0.0:0.0:0.0:1.0	.	12727;12852;12919;20151	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	19224;12727;12919;12852;12725	ENSP00000343764:Y19224S;ENSP00000434586:Y12727S;ENSP00000340554:Y12919S;ENSP00000352154:Y12852S	ENSP00000340554:Y12919S	Y	-	2	0	TTN	179156780	1.000000	0.71417	0.970000	0.41538	0.451000	0.32288	8.040000	0.89188	2.343000	0.79666	0.533000	0.62120	TAT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179448534	T	G	179448534	3	3	441	1	0	0	0	0	1	0	0	0	16735	1406	49	5	42808	5	TTN	2	179448534	Missense_Mutation	SNP	T	TCGA-61-1915-01A-01W-0639-09	50690832	179448534	63750839	15	24461											
ASNSD1	54529	genome.wustl.edu	37	2	190531054	190531054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr2:190531054G>T	ENST00000260952.4	+	4	609	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607535.1_3'UTR	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	66	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CCAGCCTGTGGAAGATGAAAG	0.358																																																0			2											138	143	142					2																	190531054		2203	4300	6503	190239299	SO:0001587	stop_gained	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.196G>T	2.37:g.190531054G>T	ENSP00000260952:p.Glu66*		190239299	D3DPH6|Q3LIC3|Q4ZG45	Nonsense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159487	0.94686	.	.	ENSG00000138381	ENST00000260952;ENST00000425590;ENST00000420250	.	.	.	5.87	4.07	0.47477	.	0.143808	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-26.9021	8.2583	0.31769	0.1345:0.1296:0.7359:0.0	.	.	.	.	X	66	.	ENSP00000260952:E66X	E	+	1	0	ASNSD1	190239299	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.122000	0.50446	0.928000	0.37168	0.655000	0.94253	GAA		0.358	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		T	190531054	G	T	190531054	4	4	441	1	0	0	0	0	0	1	0	0	1049	1175	41	3	198	3	ASNSD1	2	190531054	Nonsense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	11082520	190531054	52668319	16	24462											
NUP210	23225	genome.wustl.edu	37	3	13407537	13407537	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr3:13407537G>C	ENST00000254508.5	-	14	1923	c.1841C>G	c.(1840-1842)gCc>gGc	p.A614G		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	614					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGAGCCCTGGGCCTCGGCCTT	0.582																																																0			3											94	86	89					3																	13407537		2203	4300	6503	13382537	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1841C>G	3.37:g.13407537G>C	ENSP00000254508:p.Ala614Gly		13382537	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	3.941	-0.014281	0.07681	.	.	ENSG00000132182	ENST00000254508	T	0.05258	3.47	5.21	3.15	0.36227	.	0.669254	0.15597	N	0.254119	T	0.06781	0.0173	L	0.53249	1.67	0.20926	N	0.999825	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.30179	-0.9987	10	0.27082	T	0.32	.	6.6134	0.22763	0.2504:0.1486:0.601:0.0	.	614;614	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	G	614	ENSP00000254508:A614G	ENSP00000254508:A614G	A	-	2	0	NUP210	13382537	1.000000	0.71417	0.966000	0.40874	0.117000	0.20001	1.815000	0.38981	1.185000	0.42971	0.655000	0.94253	GCC		0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		C	13407537	G	C	13407537	3	2	441	1	0	0	0	0	1	0	0	0	10760	1203	42	3	3930	3	NUP210	3	13407537	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09		13407537	184614893	17	24463											
SLC6A6	6533	genome.wustl.edu	37	3	14508101	14508101	+	Silent	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr3:14508101G>A	ENST00000454876.2	+	7	1139	c.810G>A	c.(808-810)gcG>gcA	p.A270A	SLC6A6_ENST00000360861.3_Silent_p.A270A			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	270					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGCCGGGCGCGGGCGCAGGCA	0.617																																																0			3											83	72	76					3																	14508101		2203	4300	6503	14483105	SO:0001819	synonymous_variant	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.810G>A	3.37:g.14508101G>A			14483105	B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	CCDS33705.1																																																																																				0.617	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		A	14508101	G	A	14508101	2	1	441	1	0	0	0	0	0	0	0	1	14691	1103	39	1		1	SLC6A6	3	14508101	Silent	SNP	G	TCGA-61-1915-01A-01W-0639-09	1100564	14508101	183514329	18	24464											
DCLK3	85443	genome.wustl.edu	37	3	36779136	36779136	+	Missense_Mutation	SNP	C	C	T	rs368283858	byFrequency	TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr3:36779136C>T	ENST00000416516.2	-	2	1505	c.1015G>A	c.(1015-1017)Ggt>Agt	p.G339S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	339						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCTTCCGACCGCTGGGCCGC	0.562													C|||	2	0.000399361	0.0015	0	5008	,	,		18707	0		0	False		,,,				2504	0															0			3						C	SER/GLY	2,4092		0,2,2045	76	80	79		1015	4.7	0.1	3		79	0,8362		0,0,4181	no	missense	DCLK3	NM_033403.1	56	0,2,6226	TT,TC,CC		0.0,0.0489,0.0161	benign	339/649	36779136	2,12454	2047	4181	6228	36754140	SO:0001583	missense	85443			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1015G>A	3.37:g.36779136C>T	ENSP00000394484:p.Gly339Ser		36754140		Missense_Mutation	SNP	ENST00000416516.2	37	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	4.651	0.121110	0.08881	4.89E-4	0.0	ENSG00000163673	ENST00000416516	T	0.66815	-0.23	5.52	4.65	0.58169	Protein kinase-like domain (1);	0.251419	0.20935	N	0.083031	T	0.44871	0.1314	N	0.24115	0.695	0.09310	N	1	B	0.28801	0.223	B	0.16289	0.015	T	0.21793	-1.0235	10	0.25751	T	0.34	.	5.7676	0.18235	0.1434:0.64:0.1387:0.0779	.	339	Q9C098	DCLK3_HUMAN	S	339	ENSP00000394484:G339S	ENSP00000394484:G339S	G	-	1	0	DCLK3	36754140	0.000000	0.05858	0.062000	0.19696	0.177000	0.22998	0.178000	0.16820	1.473000	0.48159	-0.169000	0.13324	GGT		0.562	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		T	36779136	C	T	36779136	3	4	441	1	0	0	0	0	1	0	0	0	4293	652	23	1	947	1	DCLK3	3	36779136	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	22271035	36779136	161243294	19	24465											
PTPN23	25930	genome.wustl.edu	37	3	47450465	47450465	+	Silent	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr3:47450465C>T	ENST00000265562.4	+	16	1607	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F	PTPN23_ENST00000431726.1_Silent_p.F384F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	510					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCCTCCTTCACCAACAGTG	0.647																																																0			3											122	109	113					3																	47450465		2203	4300	6503	47425469	SO:0001819	synonymous_variant	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1530C>T	3.37:g.47450465C>T			47425469	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	CCDS2754.1																																																																																				0.647	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		T	47450465	C	T	47450465	2	4	441	1	0	0	0	0	0	0	0	1	12791	825	29	2		2	PTPN23	3	47450465	Silent	SNP	C	TCGA-61-1915-01A-01W-0639-09	10671329	47450465	150571965	20	24466											
BSN	8927	genome.wustl.edu	37	3	49691218	49691218	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr3:49691218C>G	ENST00000296452.4	+	5	4343	c.4229C>G	c.(4228-4230)cCt>cGt	p.P1410R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1410					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCGTAGTCCTTCACCATCT	0.617																																																0			3											147	154	152					3																	49691218		2203	4300	6503	49666222	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4229C>G	3.37:g.49691218C>G	ENSP00000296452:p.Pro1410Arg		49666222	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	6.558	0.471242	0.12461	.	.	ENSG00000164061	ENST00000296452	T	0.18174	2.23	4.78	2.97	0.34412	.	0.876740	0.09896	N	0.741719	T	0.12518	0.0304	L	0.36672	1.1	0.09310	N	1	P	0.40476	0.718	B	0.33042	0.157	T	0.15150	-1.0447	10	0.35671	T	0.21	.	9.5254	0.39160	0.0:0.8238:0.0:0.1762	.	1410	Q9UPA5	BSN_HUMAN	R	1410	ENSP00000296452:P1410R	ENSP00000296452:P1410R	P	+	2	0	BSN	49666222	0.000000	0.05858	0.024000	0.17045	0.391000	0.30476	0.146000	0.16180	1.016000	0.39470	0.462000	0.41574	CCT		0.617	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		G	49691218	C	G	49691218	3	3	441	1	0	0	0	0	1	0	0	0	1530	681	24	3	4247	3	BSN	3	49691218	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	2240753	49691218	148331212	21	24467											
B3GALNT1	8706	genome.wustl.edu	37	3	160804272	160804272	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr3:160804272C>T	ENST00000392781.2	-	8	1018	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.V91M|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.V91M|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.V91M|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.V91M|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.V91M	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	91					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CTGGCTTTCACATCTGAAGGG	0.428																																																0			3											81	85	84					3																	160804272		2203	4300	6503	162286966	SO:0001583	missense	8706			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.271G>A	3.37:g.160804272C>T	ENSP00000376532:p.Val91Met		162286966	D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140936	0.56936	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170;ENST00000468268	T;T;T;T;T;T;T	0.51071	1.12;1.12;1.12;1.12;1.12;1.12;0.72	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000012	T	0.40448	0.1117	N	0.24115	0.695	0.30742	N	0.746109	P	0.45902	0.868	P	0.45195	0.473	T	0.38972	-0.9636	10	0.33141	T	0.24	.	15.9837	0.80133	0.0:0.8655:0.1345:0.0	.	91	O75752	B3GL1_HUMAN	M	91	ENSP00000323479:V91M;ENSP00000376530:V91M;ENSP00000376531:V91M;ENSP00000376532:V91M;ENSP00000418226:V91M;ENSP00000420163:V91M;ENSP00000419476:V91M	ENSP00000323479:V91M	V	-	1	0	B3GALNT1	162286966	0.048000	0.20356	1.000000	0.80357	0.995000	0.86356	0.472000	0.22116	2.701000	0.92244	0.561000	0.74099	GTG		0.428	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		T	160804272	C	T	160804272	3	4	441	1	0	0	0	0	1	0	0	0	1245	478	17	2	728	2	B3GALNT1	3	160804272	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	111113054	160804272	37218158	22	24468											
PCGF3	10336	genome.wustl.edu	37	4	727539	727539	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr4:727539C>G	ENST00000362003.5	+	4	465	c.70C>G	c.(70-72)Ctc>Gtc	p.L24V	PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000505655.2_Missense_Mutation_p.L24V|PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000400151.2_Missense_Mutation_p.L24V|PCGF3_ENST00000470161.2_Missense_Mutation_p.L24V	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CAGCGGGTACCTCATCGACGC	0.602																																																0			4											74	84	80					4																	727539		2170	4254	6424	717539	SO:0001583	missense	10336			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	10066	protein-coding gene	gene with protein product			"ring finger protein 3"	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.70C>G	4.37:g.727539C>G	ENSP00000354724:p.Leu24Val		717539	D3DVN1|O15262	Missense_Mutation	SNP	ENST00000362003.5	37	CCDS3339.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834667	0.91036	.	.	ENSG00000185619	ENST00000419774;ENST00000362003;ENST00000427463;ENST00000470161;ENST00000400151;ENST00000433814;ENST00000505655	D;D;T;D;T;D;D	0.86497	-2.13;-2.13;-0.41;-2.13;0.28;-2.13;-2.13	5.22	5.22	0.72569	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.64402	D	0.000001	D	0.93409	0.7898	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.93997	0.7272	10	0.72032	D	0.01	-29.5464	16.6341	0.85042	0.0:1.0:0.0:0.0	.	24	Q3KNV8	PCGF3_HUMAN	V	24	ENSP00000416279:L24V;ENSP00000354724:L24V;ENSP00000401431:L24V;ENSP00000420489:L24V;ENSP00000383015:L24V;ENSP00000398493:L24V;ENSP00000423393:L24V	ENSP00000354724:L24V	L	+	1	0	PCGF3	717539	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.278000	0.65592	2.598000	0.87819	0.655000	0.94253	CTC		0.602	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315		G	727539	C	G	727539	3	3	441	1	0	0	0	0	1	0	0	0	11576	681	24	3	72	3	PCGF3	4	727539	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09		727539	190426737	23	24469											
RICTOR	253260	genome.wustl.edu	37	5	39002639	39002639	+	Silent	SNP	A	A	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr5:39002639A>G	ENST00000357387.3	-	5	420	c.390T>C	c.(388-390)gcT>gcC	p.A130A	RICTOR_ENST00000296782.5_Silent_p.A130A	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAATTTACCTAGCTATTAAAT	0.368																																																0			5											85	95	92					5																	39002639		2203	4300	6503	39038396	SO:0001819	synonymous_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.390T>C	5.37:g.39002639A>G			39038396		Silent	SNP	ENST00000357387.3	37	CCDS34148.1																																																																																				0.368	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		G	39002639	A	G	39002639	2	3	441	1	0	0	0	0	0	0	0	1	13361	407	15	4		4	RICTOR	5	39002639	Silent	SNP	A	TCGA-61-1915-01A-01W-0639-09		39002639	141912621	24	24470											
ITGA2	3673	genome.wustl.edu	37	5	52370263	52370263	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr5:52370263G>C	ENST00000296585.5	+	21	2763	c.2620G>C	c.(2620-2622)Gtt>Ctt	p.V874L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	874					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCAGAAGTCTGTTGCCTGCGA	0.443																																																0			5											204	158	174					5																	52370263		2203	4300	6503	52406020	SO:0001583	missense	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2620G>C	5.37:g.52370263G>C	ENSP00000296585:p.Val874Leu		52406020	Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874688	0.33069	.	.	ENSG00000164171	ENST00000296585	T	0.43688	0.94	5.01	4.07	0.47477	Integrin alpha-2 (1);	0.118882	0.56097	D	0.000027	T	0.31734	0.0806	L	0.29908	0.895	0.39584	D	0.969481	B;B	0.17667	0.023;0.009	B;B	0.26969	0.075;0.032	T	0.08472	-1.0720	10	0.16896	T	0.51	.	14.5278	0.67900	0.0:0.1463:0.8537:0.0	.	874;874	E7ESP4;P17301	.;ITA2_HUMAN	L	874	ENSP00000296585:V874L	ENSP00000296585:V874L	V	+	1	0	ITGA2	52406020	0.994000	0.37717	0.997000	0.53966	0.891000	0.51852	2.646000	0.46630	2.755000	0.94549	0.650000	0.86243	GTT		0.443	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		C	52370263	G	C	52370263	3	2	441	1	0	0	0	0	1	0	0	0	7875	1377	48	3	2702	3	ITGA2	5	52370263	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	13367624	52370263	128544997	25	24471											
DHX29	54505	genome.wustl.edu	37	5	54579235	54579235	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr5:54579235C>G	ENST00000251636.5	-	11	1909	c.1761G>C	c.(1759-1761)agG>agC	p.R587S	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	587	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTACCCGATGCCTTTTAAGAG	0.403																																																0			5											127	134	132					5																	54579235		2203	4300	6503	54614992	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1761G>C	5.37:g.54579235C>G	ENSP00000251636:p.Arg587Ser		54614992	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390873	0.25118	.	.	ENSG00000067248	ENST00000251636	T	0.07567	3.18	5.74	2.61	0.31194	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.088663	0.85682	D	0.000000	T	0.03348	0.0097	N	0.04387	-0.21	0.46028	D	0.998825	B	0.14012	0.009	B	0.18561	0.022	T	0.45411	-0.9263	10	0.16896	T	0.51	.	7.1408	0.25554	0.0:0.5578:0.0:0.4422	.	587	Q7Z478	DHX29_HUMAN	S	587	ENSP00000251636:R587S	ENSP00000251636:R587S	R	-	3	2	DHX29	54614992	0.990000	0.36364	1.000000	0.80357	0.944000	0.59088	0.172000	0.16704	0.781000	0.33589	0.591000	0.81541	AGG		0.403	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		G	54579235	C	G	54579235	3	3	441	1	0	0	0	0	1	0	0	0	4503	738	26	3	2416	3	DHX29	5	54579235	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	2208972	54579235	126336025	26	24472											
MCC	4163	genome.wustl.edu	37	5	112437451	112437451	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr5:112437451G>T	ENST00000302475.4	-	6	1376	c.813C>A	c.(811-813)gaC>gaA	p.D271E	MCC_ENST00000515367.2_Missense_Mutation_p.D208E|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.D461E	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	271					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCGGAGCCGGTCCCGCTCTT	0.592																																																0			5											115	109	111					5																	112437451		2202	4300	6502	112465350	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.813C>A	5.37:g.112437451G>T	ENSP00000305617:p.Asp271Glu		112465350	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249133	0.80024	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.32988	1.43;1.43;1.43	5.4	5.4	0.78164	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	L	0.27053	0.805	0.53688	D	0.999973	D;D;D;D	0.63046	0.992;0.992;0.99;0.992	D;D;D;D	0.74348	0.983;0.983;0.98;0.983	T	0.05068	-1.0908	10	0.06365	T	0.9	-38.365	12.844	0.57819	0.0749:0.0:0.9251:0.0	.	271;233;461;271	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	E	271;208;461	ENSP00000305617:D271E;ENSP00000421615:D208E;ENSP00000386227:D461E	ENSP00000305617:D271E	D	-	3	2	MCC	112465350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.076000	0.71267	2.684000	0.91462	0.655000	0.94253	GAC		0.592	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		T	112437451	G	T	112437451	3	4	441	1	0	0	0	0	1	0	0	0	9373	1252	44	3	1724	3	MCC	5	112437451	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	57858216	112437451	68477809	27	24473											
RBM27	54439	genome.wustl.edu	37	5	145616964	145616964	+	Silent	SNP	A	A	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr5:145616964A>G	ENST00000265271.5	+	8	1414	c.1248A>G	c.(1246-1248)ttA>ttG	p.L416L	RBM27_ENST00000506502.1_Silent_p.L416L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	416	Pro-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCTCCTTTACCCCAGAACC	0.428																																																0			5											199	164	175					5																	145616964		1568	3582	5150	145597157	SO:0001819	synonymous_variant	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1248A>G	5.37:g.145616964A>G			145597157	Q8IYW9	Silent	SNP	ENST00000265271.5	37	CCDS43378.1																																																																																				0.428	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		G	145616964	A	G	145616964	2	3	441	1	0	0	0	0	0	0	0	1	13130	388	14	4		4	RBM27	5	145616964	Silent	SNP	A	TCGA-61-1915-01A-01W-0639-09	33179513	145616964	35298296	28	24474											
SCAND3	114821	genome.wustl.edu	37	6	28540554	28540554	+	Silent	SNP	A	A	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr6:28540554A>G	ENST00000452236.2	-	4	3729	c.3112T>C	c.(3112-3114)Tta>Cta	p.L1038L		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aaagagaataatcttgaattc	0.299																																																0			6											45	47	46					6																	28540554		2200	4295	6495	28648533	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.3112T>C	6.37:g.28540554A>G			28648533		Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.299	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			G	28540554	A	G	28540554	2	3	441	1	0	0	0	0	0	0	0	1	13879	98	4	4		4	SCAND3	6	28540554	Silent	SNP	A	TCGA-61-1915-01A-01W-0639-09		28540554	142574513	29	24475											
NOTCH4	4855	genome.wustl.edu	37	6	32170091	32170091	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr6:32170091G>A	ENST00000375023.3	-	21	3655	c.3517C>T	c.(3517-3519)Ccc>Tcc	p.P1173S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1173					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTGGCTCCGGGTTTCTGACAC	0.647																																																0			6											21	23	22					6																	32170091		1509	2707	4216	32278069	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3517C>T	6.37:g.32170091G>A	ENSP00000364163:p.Pro1173Ser		32278069	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	3.508	-0.100326	0.06967	.	.	ENSG00000204301	ENST00000375023	D	0.81739	-1.53	4.77	1.78	0.24846	Notch domain (3);	0.156484	0.30347	N	0.009829	T	0.43122	0.1233	N	0.13168	0.305	0.80722	D	1	B	0.15719	0.014	B	0.22152	0.038	T	0.21484	-1.0244	10	0.16896	T	0.51	.	7.8186	0.29274	0.3086:0.0:0.6914:0.0	.	1173	Q99466	NOTC4_HUMAN	S	1173	ENSP00000364163:P1173S	ENSP00000364163:P1173S	P	-	1	0	NOTCH4	32278069	0.063000	0.20901	0.518000	0.27811	0.133000	0.20885	0.692000	0.25482	0.626000	0.30322	-0.258000	0.10820	CCC		0.647	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32170091	G	A	32170091	3	1	441	1	0	0	0	0	1	0	0	0	10551	1261	44	2	2534	2	NOTCH4	6	32170091	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	3629537	32170091	138944976	30	24476											
SYNGAP1	8831	genome.wustl.edu	37	6	33408583	33408583	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr6:33408583C>T	ENST00000418600.2	+	11	1855	c.1754C>T	c.(1753-1755)gCa>gTa	p.A585V	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A585V|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A526V|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	585	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGGACATCGCAGACAGGCTT	0.627																																																0			6											75	64	68					6																	33408583		2203	4300	6503	33516561	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1754C>T	6.37:g.33408583C>T	ENSP00000403636:p.Ala585Val		33516561	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964587	0.92791	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.79454	-1.27;-1.27;-1.27	5.24	5.24	0.73138	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.83083	0.5177	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.99;0.99	D	0.84438	0.0581	10	0.87932	D	0	.	16.3526	0.83220	0.0:1.0:0.0:0.0	.	585;585;585	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	V	585;585;585;526	ENSP00000293748:A585V;ENSP00000403636:A585V;ENSP00000412475:A526V	ENSP00000293748:A585V	A	+	2	0	SYNGAP1	33516561	0.082000	0.21442	0.966000	0.40874	0.989000	0.77384	0.919000	0.28692	2.733000	0.93635	0.655000	0.94253	GCA		0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		T	33408583	C	T	33408583	3	4	441	1	0	0	0	0	1	0	0	0	15447	710	25	2	1796	2	SYNGAP1	6	33408583	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	1238492	33408583	137706484	31	24477											
TBC1D22B	55633	genome.wustl.edu	37	6	37247165	37247165	+	Frame_Shift_Del	DEL	A	A	-			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr6:37247165delA	ENST00000373491.3	+	3	345	c.199delA	c.(199-201)agtfs	p.S67fs		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	67							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			ACGGAATACCAGTGATGCTTG	0.428																																																0			6											155	146	149					6																	37247165		2203	4300	6503	37355143	SO:0001589	frameshift_variant	55633			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.199delA	6.37:g.37247165delA	ENSP00000362590:p.Ser67fs		37355143	A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Frame_Shift_Del	DEL	ENST00000373491.3	37	CCDS4832.1																																																																																				0.428	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		-	37247165	A	-	37247165	7	5	441	1	0	1	0	1	0	0	0	0	15612	188	7	0	209	0	TBC1D22B	6	37247165	Frame_Shift_Del	DEL	A	TCGA-61-1915-01A-01W-0639-09	3838582	37247165	133867902	32	24478											
SLC22A2	6582	genome.wustl.edu	37	6	160666552	160666552	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr6:160666552C>G	ENST00000366953.3	-	6	1241	c.983G>C	c.(982-984)gGc>gCc	p.G328A	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.G307A	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	328					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAATTTCTTGCCAGTTTCCTC	0.378																																																0			6											85	80	82					6																	160666552		2203	4300	6503	160586542	SO:0001583	missense	6582			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.983G>C	6.37:g.160666552C>G	ENSP00000355920:p.Gly328Ala		160586542	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	0.757	-0.770603	0.02974	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73469	-0.75;-0.75	5.17	0.919	0.19392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.587363	0.17668	N	0.166079	T	0.25865	0.0630	N	0.17594	0.5	0.09310	N	1	B;B	0.23249	0.011;0.082	B;B	0.25614	0.062;0.053	T	0.34428	-0.9829	10	0.06757	T	0.87	.	5.4322	0.16460	0.1274:0.5573:0.0:0.3153	.	328;328	O15244;O15244-2	S22A2_HUMAN;.	A	328;307	ENSP00000355920:G328A;ENSP00000355919:G307A	ENSP00000355919:G307A	G	-	2	0	SLC22A2	160586542	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.305000	0.19254	0.221000	0.20879	-0.345000	0.07892	GGC		0.378	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		G	160666552	C	G	160666552	3	3	441	1	0	0	0	0	1	0	0	0	14453	739	26	3	708	3	SLC22A2	6	160666552	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	123419387	160666552	10448515	33	24479											
IGF2BP3	10643	genome.wustl.edu	37	7	23381704	23381704	+	Silent	SNP	A	A	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr7:23381704A>C	ENST00000258729.3	-	10	1538	c.1182T>G	c.(1180-1182)acT>acG	p.T394T		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	394					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGTAGGGAGGAGTCATGGCTG	0.498																																																0			7											45	39	41					7																	23381704		2203	4300	6503	23348229	SO:0001819	synonymous_variant	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1182T>G	7.37:g.23381704A>C			23348229	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	CCDS5382.1																																																																																				0.498	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		C	23381704	A	C	23381704	2	2	441	1	0	0	0	0	0	0	0	1	7575	291	11	5		5	IGF2BP3	7	23381704	Silent	SNP	A	TCGA-61-1915-01A-01W-0639-09		23381704	135756959	34	24480											
IQUB	154865	genome.wustl.edu	37	7	123104951	123104951	+	Missense_Mutation	SNP	G	G	A	rs180949404		TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr7:123104951G>A	ENST00000466202.1	-	10	2270	c.1694C>T	c.(1693-1695)gCg>gTg	p.A565V	IQUB_ENST00000324698.6_Missense_Mutation_p.A565V|IQUB_ENST00000434450.1_Missense_Mutation_p.A565V	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	565					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAAGAGTGTCGCAATTCTTTT	0.328													G|||	1	0.000199681	0	0	5008	,	,		15804	0		0.001	False		,,,				2504	0															0			7											127	138	134					7																	123104951		2202	4298	6500	122892187	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1694C>T	7.37:g.123104951G>A	ENSP00000417769:p.Ala565Val		122892187	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.77	3.215145	0.58452	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.46451	1.88;1.88;0.87	5.32	5.32	0.75619	.	0.463650	0.25704	N	0.028860	T	0.36110	0.0955	L	0.43152	1.355	0.25802	N	0.984492	D;P	0.53745	0.962;0.87	B;B	0.40256	0.324;0.129	T	0.38520	-0.9657	10	0.42905	T	0.14	.	15.2552	0.73579	0.0:0.1802:0.8198:0.0	.	565;565	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	V	565	ENSP00000417769:A565V;ENSP00000324882:A565V;ENSP00000388498:A565V	ENSP00000324882:A565V	A	-	2	0	IQUB	122892187	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	4.203000	0.58453	2.654000	0.90174	0.579000	0.79373	GCG		0.328	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		A	123104951	G	A	123104951	3	1	441	1	0	0	0	0	1	0	0	0	7820	1087	38	1	697	1	IQUB	7	123104951	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	99723247	123104951	36033712	35	24481											
GPR37	2861	genome.wustl.edu	37	7	124387343	124387343	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr7:124387343A>T	ENST00000303921.2	-	2	1728	c.1078T>A	c.(1078-1080)Ttc>Atc	p.F360I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	360					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCAGCACGGAAGCGGTCTATG	0.488																																																0			7											70	70	70					7																	124387343		2203	4300	6503	124174579	SO:0001583	missense	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1078T>A	7.37:g.124387343A>T	ENSP00000306449:p.Phe360Ile		124174579	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998336	0.74818	.	.	ENSG00000170775	ENST00000303921	T	0.73681	-0.77	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.84897	0.5574	M	0.75085	2.285	0.58432	D	0.999999	D	0.54601	0.967	D	0.64687	0.928	D	0.86781	0.1979	10	0.87932	D	0	-31.9548	15.0346	0.71734	1.0:0.0:0.0:0.0	.	360	O15354	GPR37_HUMAN	I	360	ENSP00000306449:F360I	ENSP00000306449:F360I	F	-	1	0	GPR37	124174579	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.339000	0.96797	2.148000	0.66965	0.460000	0.39030	TTC		0.488	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		T	124387343	A	T	124387343	3	4	441	1	0	0	0	0	1	0	0	0	6691	72	3	5	767	5	GPR37	7	124387343	Missense_Mutation	SNP	A	TCGA-61-1915-01A-01W-0639-09	1282392	124387343	34751320	36	24482											
FSCN3	29999	genome.wustl.edu	37	7	127238516	127238516	+	Frame_Shift_Del	DEL	G	G	-			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr7:127238516delG	ENST00000265825.5	+	4	1207	c.988delG	c.(988-990)gggfs	p.G330fs	FSCN3_ENST00000420086.2_Frame_Shift_Del_p.G196fs	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	330						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						AATGGCTGATGGGCACCCCCT	0.532																																																0			7											76	74	74					7																	127238516		2203	4300	6503	127025752	SO:0001589	frameshift_variant	29999				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.988delG	7.37:g.127238516delG	ENSP00000265825:p.Gly330fs		127025752	A4D0Z2|A6NLL7|B2RA62|B4DU68	Frame_Shift_Del	DEL	ENST00000265825.5	37	CCDS34746.1																																																																																				0.532	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		-	127238516	G	-	127238516	7	5	441	1	0	1	0	1	0	0	0	0	6069	1348	47	0	1002	0	FSCN3	7	127238516	Frame_Shift_Del	DEL	G	TCGA-61-1915-01A-01W-0639-09	2851173	127238516	31900147	37	24483											
MEST	4232	genome.wustl.edu	37	7	130138289	130138289	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr7:130138289C>G	ENST00000223215.4	+	6	727	c.506C>G	c.(505-507)aCc>aGc	p.T169S	hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000378576.4_Missense_Mutation_p.T160S|MEST_ENST00000416162.2_Missense_Mutation_p.T160S|MEST_ENST00000341441.5_Missense_Mutation_p.T160S|MEST_ENST00000437945.1_Missense_Mutation_p.T169S|MIR335_ENST00000362173.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.T160S	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	169					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GGTCGGCTTACCATAAAGAGT	0.473																																					Colon(126;2182 2305 6517 35181)											0			7											122	101	108					7																	130138289		2203	4300	6503	129925525	SO:0001583	missense	4232				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.506C>G	7.37:g.130138289C>G	ENSP00000223215:p.Thr169Ser		129925525	B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148476	0.21288	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000433159;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945;ENST00000458161	T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;0.86;-0.23;-0.23;-0.23;-0.23	5.88	4.9	0.64082	.	0.523451	0.22051	N	0.065317	T	0.43700	0.1259	N	0.25201	0.72	0.29721	N	0.838644	B;P;B;B	0.34462	0.004;0.454;0.089;0.082	B;B;B;B	0.34931	0.044;0.192;0.098;0.037	T	0.39781	-0.9597	10	0.09843	T	0.71	-19.6661	3.585	0.07967	0.2517:0.5983:0.0:0.15	.	155;169;169;160	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	S	160;160;160;160;160;160;160;169;169;160	ENSP00000342749:T160S;ENSP00000409505:T160S;ENSP00000408933:T160S;ENSP00000367839:T160S;ENSP00000409768:T160S;ENSP00000376884:T160S;ENSP00000407222:T160S;ENSP00000223215:T169S;ENSP00000401657:T169S	ENSP00000223215:T169S	T	+	2	0	MEST	129925525	0.994000	0.37717	1.000000	0.80357	0.972000	0.66771	1.447000	0.35101	2.785000	0.95823	0.655000	0.94253	ACC		0.473	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		G	130138289	C	G	130138289	3	3	441	1	0	0	0	0	1	0	0	0	9484	507	18	3	528	3	MEST	7	130138289	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	2899773	130138289	29000374	38	24484											
CREB3L2	64764	genome.wustl.edu	37	7	137600629	137600629	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr7:137600629G>A	ENST00000330387.6	-	3	800	c.449C>T	c.(448-450)tCc>tTc	p.S150F	CREB3L2_ENST00000458726.1_Missense_Mutation_p.S87F|CREB3L2_ENST00000452463.1_Missense_Mutation_p.S150F|CREB3L2_ENST00000456390.1_Missense_Mutation_p.S150F	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	150					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|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 positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CAACGGGGTGGAGATGGCTGT	0.473			T	FUS	fibromyxoid sarcoma																																		Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0			7											155	144	148					7																	137600629		2203	4300	6503	137251169	SO:0001583	missense	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.449C>T	7.37:g.137600629G>A	ENSP00000329140:p.Ser150Phe		137251169	Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274620	0.80580	.	.	ENSG00000182158	ENST00000330387;ENST00000417785;ENST00000456390;ENST00000452463;ENST00000458726;ENST00000420629	T;T;T;T;T	0.66099	0.22;-0.19;0.8;0.78;0.46	6.17	6.17	0.99709	.	0.555091	0.18335	N	0.144343	T	0.76321	0.3971	L	0.53249	1.67	0.58432	D	0.999993	D;D;D	0.63880	0.993;0.986;0.976	D;P;P	0.63113	0.911;0.814;0.656	T	0.74746	-0.3561	10	0.62326	D	0.03	-1.4956	20.4745	0.99168	0.0:0.0:1.0:0.0	.	150;150;150	Q70SY1-3;Q70SY1-2;Q70SY1	.;.;CR3L2_HUMAN	F	150;150;150;150;87;143	ENSP00000329140:S150F;ENSP00000403550:S150F;ENSP00000410314:S150F;ENSP00000388917:S87F;ENSP00000402889:S143F	ENSP00000329140:S150F	S	-	2	0	CREB3L2	137251169	1.000000	0.71417	0.994000	0.49952	0.713000	0.41058	6.367000	0.73099	2.941000	0.99782	0.655000	0.94253	TCC		0.473	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		A	137600629	G	A	137600629	3	1	441	1	0	0	0	0	1	0	0	0	3857	1174	41	2	1153	2	CREB3L2	7	137600629	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	7462340	137600629	21538034	39	24485											
PAXIP1	22976	genome.wustl.edu	37	7	154767999	154767999	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr7:154767999C>T	ENST00000404141.1	-	6	635	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.V161M			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	161	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCAGGAGTCACAATTTTAATA	0.373																																																0			7											79	76	77					7																	154767999		1858	4122	5980	154398932	SO:0001583	missense	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.481G>A	7.37:g.154767999C>T	ENSP00000384048:p.Val161Met		154398932	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649462	0.87958	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	D;D;D	0.93859	-3.3;-3.3;-3.3	4.98	4.98	0.66077	BRCT (3);	0.000000	0.49916	U	0.000139	D	0.96787	0.8951	M	0.80422	2.495	0.51012	D	0.999907	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.994;0.999;1.0	D	0.97476	1.0044	10	0.87932	D	0	-8.1862	18.2489	0.89996	0.0:1.0:0.0:0.0	.	114;70;127;161	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	M	161;161;109;114;119	ENSP00000384048:V161M;ENSP00000380376:V161M;ENSP00000389849:V119M	ENSP00000319149:V114M	V	-	1	0	PAXIP1	154398932	1.000000	0.71417	0.907000	0.35723	0.934000	0.57294	5.335000	0.65929	2.301000	0.77427	0.305000	0.20034	GTG		0.373	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		T	154767999	C	T	154767999	3	4	441	1	0	0	0	0	1	0	0	0	11487	478	17	2	2792	2	PAXIP1	7	154767999	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	17167370	154767999	4370664	40	24486											
LZTS1	11178	genome.wustl.edu	37	8	20112382	20112382	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr8:20112382G>T	ENST00000381569.1	-	2	668	c.311C>A	c.(310-312)cCc>cAc	p.P104H	LZTS1_ENST00000265801.6_Missense_Mutation_p.P104H|LZTS1_ENST00000522290.1_Missense_Mutation_p.P104H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	104					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CATGAGCTTGGGGGGTGTGGA	0.597																																																0			8											38	39	39					8																	20112382		2203	4300	6503	20156662	SO:0001583	missense	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.311C>A	8.37:g.20112382G>T	ENSP00000370981:p.Pro104His		20156662	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205051	0.79127	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.51325	1.1;1.1;0.71	6.02	6.02	0.97574	.	0.159839	0.56097	D	0.000031	T	0.63486	0.2515	L	0.55213	1.73	0.47511	D	0.999448	D;D	0.89917	1.0;0.991	D;P	0.69307	0.963;0.635	T	0.63980	-0.6514	10	0.87932	D	0	-52.4497	14.8091	0.69979	0.0:0.0:0.8554:0.1446	.	104;104	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	H	104	ENSP00000370981:P104H;ENSP00000265801:P104H;ENSP00000429263:P104H	ENSP00000265801:P104H	P	-	2	0	LZTS1	20156662	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.471000	0.66762	2.857000	0.98124	0.650000	0.86243	CCC		0.597	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		T	20112382	G	T	20112382	3	4	441	1	0	0	0	0	1	0	0	0	9138	1232	43	3	1491	3	LZTS1	8	20112382	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09		20112382	126251640	41	24487											
ATP6V0D2	245972	genome.wustl.edu	37	8	87111222	87111222	+	Silent	SNP	G	G	A	rs201771660		TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr8:87111222G>A	ENST00000285393.3	+	1	157	c.15G>A	c.(13-15)gcG>gcA	p.A5A	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	5					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TCGAAGGTGCGGAGCTGTACT	0.557													g|||	1	0.000199681	0	0	5008	,	,		16445	0.001		0	False		,,,				2504	0															0			8											135	103	114					8																	87111222		2203	4300	6503	87180338	SO:0001819	synonymous_variant	245972			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"ATPases / V-type"	18266	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.15G>A	8.37:g.87111222G>A			87180338		Silent	SNP	ENST00000285393.3	37	CCDS6241.1																																																																																				0.557	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		A	87111222	G	A	87111222	2	1	441	1	0	0	0	0	0	0	0	1	1174	1103	39	1		1	ATP6V0D2	8	87111222	Silent	SNP	G	TCGA-61-1915-01A-01W-0639-09	66998840	87111222	59252800	42	24488											
KANK1	23189	genome.wustl.edu	37	9	712314	712314	+	Silent	SNP	G	G	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr9:712314G>T	ENST00000382303.1	+	7	2200	c.1548G>T	c.(1546-1548)gtG>gtT	p.V516V	KANK1_ENST00000382297.2_Silent_p.V516V|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.V358V	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	516					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTAAGGTGGTGGAGGCAGTGG	0.537																																																0			9											68	66	67					9																	712314		2203	4300	6503	702314	SO:0001819	synonymous_variant	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1548G>T	9.37:g.712314G>T			702314	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																				0.537	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		T	712314	G	T	712314	2	4	441	1	0	0	0	0	0	0	0	1	7976	1335	47	3		3	KANK1	9	712314	Silent	SNP	G	TCGA-61-1915-01A-01W-0639-09		712314	140501117	43	24489											
DENND4C	55667	genome.wustl.edu	37	9	19346042	19346042	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr9:19346042G>C	ENST00000380432.2	+	18	2453	c.2420G>C	c.(2419-2421)aGg>aCg	p.R807T	DENND4C_ENST00000602925.1_Missense_Mutation_p.R1043T|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1092T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	807					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTCCTGAGAGGAGTTGTAGT	0.393																																																0			9											128	124	125					9																	19346042		2203	4300	6503	19336042	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2420G>C	9.37:g.19346042G>C	ENSP00000369797:p.Arg807Thr		19336042	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.044216	0.75732	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000540671;ENST00000380432	T;T	0.55413	0.6;0.52	5.3	5.3	0.74995	.	0.305373	0.34580	N	0.003854	T	0.70885	0.3275	L	0.58101	1.795	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.97	T	0.72253	-0.4347	10	0.72032	D	0.01	-18.3548	19.144	0.93457	0.0:0.0:1.0:0.0	.	137;807	B7Z660;Q5VZ89	.;DEN4C_HUMAN	T	807;280;137;280	ENSP00000305795:R280T;ENSP00000443804:R137T	ENSP00000305795:R280T	R	+	2	0	DENND4C	19336042	1.000000	0.71417	0.986000	0.45419	0.858000	0.48976	8.556000	0.90697	2.745000	0.94114	0.655000	0.94253	AGG		0.393	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		C	19346042	G	C	19346042	3	2	441	1	0	0	0	0	1	0	0	0	4435	1000	35	3	2490	3	DENND4C	9	19346042	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	18633728	19346042	121867389	44	24490											
NPR2	4882	genome.wustl.edu	37	9	35801954	35801954	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr9:35801954C>G	ENST00000342694.2	+	9	1844	c.1589C>G	c.(1588-1590)gCc>gGc	p.A530G		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	530	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTCATGACAGCCCATGGGAAA	0.537																																																0			9											146	130	135					9																	35801954		2203	4300	6503	35791954	SO:0001583	missense	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1589C>G	9.37:g.35801954C>G	ENSP00000341083:p.Ala530Gly		35791954	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278817	0.40294	.	.	ENSG00000159899	ENST00000342694	T	0.47177	0.85	5.51	5.51	0.81932	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42964	D	0.000634	T	0.33527	0.0866	N	0.16233	0.39	0.54753	D	0.99998	B;B	0.21452	0.02;0.056	B;B	0.22152	0.012;0.038	T	0.12630	-1.0540	10	0.12103	T	0.63	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	530;530	P20594-2;P20594	.;ANPRB_HUMAN	G	530	ENSP00000341083:A530G	ENSP00000341083:A530G	A	+	2	0	NPR2	35791954	0.919000	0.31177	1.000000	0.80357	0.999000	0.98932	1.623000	0.37008	2.763000	0.94921	0.650000	0.86243	GCC		0.537	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			G	35801954	C	G	35801954	3	3	441	1	0	0	0	0	1	0	0	0	10595	739	26	3	1623	3	NPR2	9	35801954	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	16455912	35801954	105411477	45	24491											
ZNF618	114991	genome.wustl.edu	37	9	116778428	116778428	+	Intron	SNP	G	G	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr9:116778428G>C	ENST00000374126.5	+	10	853				ZNF618_ENST00000288466.7_Missense_Mutation_p.E232Q			Q5T7W0	ZN618_HUMAN	zinc finger protein 618						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TAAGAAGAAAGAAGTTAGGCA	0.393																																																0			9											61	62	62					9																	116778428		1818	4070	5888	115818249	SO:0001627	intron_variant	114991			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.755-547G>C	9.37:g.116778428G>C			115818249	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	G	9.499	1.102592	0.20632	.	.	ENSG00000157657	ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.18810	4.4;2.68;2.19	4.41	4.41	0.53225	.	.	.	.	.	T	0.23171	0.0560	N	0.08118	0	0.22213	N	0.999288	P	0.42039	0.769	P	0.61397	0.888	T	0.22277	-1.0221	9	0.15952	T	0.53	.	12.806	0.57614	0.0:0.0:1.0:0.0	.	232	Q5T7W0-2	.	Q	232;220;232	ENSP00000288466:E232Q;ENSP00000395400:E220Q;ENSP00000363239:E232Q	ENSP00000288466:E232Q	E	+	1	0	ZNF618	115818249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.396000	0.44468	2.734000	0.93682	0.655000	0.94253	GAA		0.393	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		C	116778428	G	C	116778428	1	2	441	0	1	0	0	0	0	0	0	0	18042	943	33	3		3	ZNF618	9	116778428	Intron	SNP	G	TCGA-61-1915-01A-01W-0639-09	80976474	116778428	24435003	46	24492											
TLR4	7099	genome.wustl.edu	37	9	120476761	120476761	+	Silent	SNP	G	G	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr9:120476761G>C	ENST00000355622.6	+	3	2456	c.2355G>C	c.(2353-2355)ctG>ctC	p.L785L	TLR4_ENST00000394487.4_Silent_p.L745L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	785	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGGTGGAGCTGTACCGCCTTC	0.557																																																0			9											73	71	72					9																	120476761		2203	4300	6503	119516582	SO:0001819	synonymous_variant	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2355G>C	9.37:g.120476761G>C			119516582	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	CCDS6818.1																																																																																				0.557	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		C	120476761	G	C	120476761	2	2	441	1	0	0	0	0	0	0	0	1	15953	1364	48	3		3	TLR4	9	120476761	Silent	SNP	G	TCGA-61-1915-01A-01W-0639-09	3698333	120476761	20736670	47	24493											
NEBL	10529	genome.wustl.edu	37	10	21461356	21461356	+	Silent	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr10:21461356G>A	ENST00000417816.2	-	2	473	c.120C>T	c.(118-120)aaC>aaT	p.N40N	NEBL-AS1_ENST00000439097.1_RNA|NEBL-AS1_ENST00000417845.1_RNA|NEBL_ENST00000464278.1_5'UTR	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	0					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGTTGTTCATGTTGAGTGCCA	0.403																																																0			10											186	173	178					10																	21461356		2203	4300	6503	21501362	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.120C>T	10.37:g.21461356G>A			21501362	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000417816.2	37	CCDS7133.1																																																																																				0.403	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		A	21461356	G	A	21461356	2	1	441	1	0	0	0	0	0	0	0	1	10303	1368	48	2		2	NEBL	10	21461356	Silent	SNP	G	TCGA-61-1915-01A-01W-0639-09		21461356	114073391	48	24494											
ANKRD30A	91074	genome.wustl.edu	37	10	37433956	37433956	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr10:37433956A>T	ENST00000602533.1	+	8	1358	c.1259A>T	c.(1258-1260)gAa>gTa	p.E420V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E420V|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E420V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	476					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAACAAGAGGAAGATGAAGAA	0.269																																																0			10											114	110	111					10																	37433956		1781	4065	5846	37473962	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1259A>T	10.37:g.37433956A>T	ENSP00000473551:p.Glu420Val		37473962	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	11.49	1.654047	0.29425	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.35236	1.4;1.32	1.13	1.13	0.20643	.	.	.	.	.	T	0.45316	0.1336	L	0.46157	1.445	0.09310	N	1	P	0.51653	0.947	D	0.67231	0.95	T	0.19484	-1.0304	9	0.56958	D	0.05	.	4.5712	0.12210	1.0:0.0:0.0:0.0	.	476	Q9BXX3	AN30A_HUMAN	V	420	ENSP00000354432:E420V;ENSP00000363792:E420V	ENSP00000354432:E420V	E	+	2	0	ANKRD30A	37473962	0.984000	0.35163	0.002000	0.10522	0.261000	0.26267	2.460000	0.45031	0.803000	0.34113	0.076000	0.15429	GAA		0.269	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		T	37433956	A	T	37433956	3	4	441	1	0	0	0	0	1	0	0	0	658	246	9	5	1289	5	ANKRD30A	10	37433956	Missense_Mutation	SNP	A	TCGA-61-1915-01A-01W-0639-09	15972600	37433956	98100791	49	24495											
CTNNA3	29119	genome.wustl.edu	37	10	68381515	68381515	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr10:68381515T>C	ENST00000433211.2	-	10	1483	c.1309A>G	c.(1309-1311)Aca>Gca	p.T437A	CTNNA3_ENST00000373744.4_Missense_Mutation_p.T437A	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTTCATTTGTTGACATGGAA	0.318																																																0			10											86	81	83					10																	68381515		2203	4299	6502	68051521	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1309A>G	10.37:g.68381515T>C	ENSP00000389714:p.Thr437Ala		68051521		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693770	0.30052	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.33865	1.39;1.39	5.49	1.46	0.22682	.	0.128686	0.34067	N	0.004289	T	0.23572	0.0570	L	0.33485	1.01	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.05022	-1.0911	10	0.39692	T	0.17	-11.5592	7.432	0.27132	0.0:0.2956:0.0:0.7044	.	437;437	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	A	437	ENSP00000389714:T437A;ENSP00000362849:T437A	ENSP00000362849:T437A	T	-	1	0	CTNNA3	68051521	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	1.394000	0.34509	0.383000	0.24910	-0.263000	0.10527	ACA		0.318	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		C	68381515	T	C	68381515	3	2	441	1	0	0	0	0	1	0	0	0	4014	1725	60	4	1414	4	CTNNA3	10	68381515	Missense_Mutation	SNP	T	TCGA-61-1915-01A-01W-0639-09	30947559	68381515	67153232	50	24496											
LRIT2	340745	genome.wustl.edu	37	10	85981766	85981766	+	Silent	SNP	A	A	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr10:85981766A>G	ENST00000372113.4	-	3	1568	c.1563T>C	c.(1561-1563)ttT>ttC	p.F521F	LRIT2_ENST00000538192.1_Silent_p.F531F	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	521						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GATGTTCTCTAAAGGAGCCAT	0.597																																																0			10											102	96	98					10																	85981766		2203	4300	6503	85971746	SO:0001819	synonymous_variant	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1563T>C	10.37:g.85981766A>G			85971746	B7ZME6	Silent	SNP	ENST00000372113.4	37	CCDS31234.1																																																																																				0.597	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		G	85981766	A	G	85981766	2	3	441	1	0	0	0	0	0	0	0	1	8948	359	13	4		4	LRIT2	10	85981766	Silent	SNP	A	TCGA-61-1915-01A-01W-0639-09	17600251	85981766	49552981	51	24497											
ARL3	403	genome.wustl.edu	37	10	104465190	104465190	+	Silent	SNP	T	T	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr10:104465190T>G	ENST00000260746.5	-	2	191	c.60A>C	c.(58-60)atA>atC	p.I20I		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	20					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CCAGGAGAAGTATTCTCACCT	0.502																																																0			10											139	112	121					10																	104465190		2203	4300	6503	104455180	SO:0001819	synonymous_variant	403			U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.60A>C	10.37:g.104465190T>G			104455180	B2R6C7|Q53X83|Q5JSM2	Silent	SNP	ENST00000260746.5	37	CCDS7538.1																																																																																				0.502	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050088.2	NM_004311		G	104465190	T	G	104465190	2	3	441	1	0	0	0	0	0	0	0	1	935	1628	57	5		5	ARL3	10	104465190	Silent	SNP	T	TCGA-61-1915-01A-01W-0639-09	18483424	104465190	31069557	52	24498											
IGSF22	283284	genome.wustl.edu	37	11	18738463	18738463	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr11:18738463T>G	ENST00000513874.1	-	10	1197	c.1058A>C	c.(1057-1059)aAg>aCg	p.K353T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	353										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGGCTCTTTCTTGGAGAGGCG	0.512																																																0			11											197	196	196					11																	18738463		2050	4186	6236	18695039	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1058A>C	11.37:g.18738463T>G	ENSP00000421191:p.Lys353Thr		18695039	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709782	0.48517	.	.	ENSG00000179057	ENST00000513874	T	0.66815	-0.23	4.94	3.8	0.43715	.	0.000000	0.37906	U	0.001886	T	0.66597	0.2805	L	0.28649	0.875	0.23669	N	0.997157	D	0.69078	0.997	D	0.79108	0.992	T	0.55623	-0.8112	10	0.15952	T	0.53	.	8.26	0.31779	0.0:0.1646:0.0:0.8354	.	353	D6RGV7	.	T	353	ENSP00000421191:K353T	ENSP00000322422:K353T	K	-	2	0	IGSF22	18695039	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	1.955000	0.40372	0.724000	0.32296	0.533000	0.62120	AAG		0.512	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		G	18738463	T	G	18738463	3	3	441	1	0	0	0	0	1	0	0	0	7600	1609	56	5	2978	5	IGSF22	11	18738463	Missense_Mutation	SNP	T	TCGA-61-1915-01A-01W-0639-09		18738463	116268053	53	24499											
INTS5	80789	genome.wustl.edu	37	11	62414729	62414729	+	Silent	SNP	C	C	G	rs551521257		TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr11:62414729C>G	ENST00000330574.2	-	2	2875	c.2823G>C	c.(2821-2823)ctG>ctC	p.L941L	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	941					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TGAGCAGCAGCAGACGCACCT	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		19281	0		0	False		,,,				2504	0															0			11											147	163	158					11																	62414729		2202	4299	6501	62171305	SO:0001819	synonymous_variant	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2823G>C	11.37:g.62414729C>G			62171305	Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	CCDS8027.1																																																																																				0.567	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		G	62414729	C	G	62414729	2	3	441	1	0	0	0	0	0	0	0	1	7781	697	25	3		3	INTS5	11	62414729	Silent	SNP	C	TCGA-61-1915-01A-01W-0639-09	43676266	62414729	72591787	54	24500											
STX5	6811	genome.wustl.edu	37	11	62592559	62592559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr11:62592559G>A	ENST00000294179.3	-	8	781	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	STX5_ENST00000394690.1_Nonsense_Mutation_p.Q156*|STX5_ENST00000541317.1_Nonsense_Mutation_p.Q114*|STX5_ENST00000377897.4_Nonsense_Mutation_p.Q210*	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	210					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CGGGAGAACTGCTCTCTCCGG	0.567																																																0			11											46	52	50					11																	62592559		2201	4299	6500	62349135	SO:0001587	stop_gained	6811			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"syntaxin 5A"	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.628C>T	11.37:g.62592559G>A	ENSP00000294179:p.Gln210*		62349135	B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Nonsense_Mutation	SNP	ENST00000294179.3	37	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	35	5.437918	0.96168	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	.	.	.	5.41	5.41	0.78517	.	0.280574	0.42548	D	0.000683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-21.5768	16.7371	0.85449	0.0:0.0:1.0:0.0	.	.	.	.	X	210;210;156;114	.	ENSP00000294179:Q210X	Q	-	1	0	STX5	62349135	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.141000	0.94612	2.826000	0.97356	0.655000	0.94253	CAG		0.567	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		A	62592559	G	A	62592559	4	1	441	1	0	0	0	0	0	1	0	0	15350	1328	46	2	455	2	STX5	11	62592559	Nonsense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	177830	62592559	72413957	55	24501											
LTBP3	4054	genome.wustl.edu	37	11	65310999	65310999	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr11:65310999C>G	ENST00000301873.5	-	17	2643	c.2375G>C	c.(2374-2376)gGg>gCg	p.G792A	LTBP3_ENST00000322147.4_Missense_Mutation_p.G792A|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.G222A|LTBP3_ENST00000536982.1_Missense_Mutation_p.G418A	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	792	Cys-rich.|EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACACACGTCCCCAGCCTCACA	0.577																																																0			11											159	131	140					11																	65310999		2201	4297	6498	65067575	SO:0001583	missense	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2375G>C	11.37:g.65310999C>G	ENSP00000301873:p.Gly792Ala		65067575	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.54|12.54	1.967681|1.967681	0.34754|0.34754	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.92249|.	-3.0;-3.0;-3.0;-3.0;-3.0|.	4.39|4.39	4.39|4.39	0.52855|0.52855	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.448650|.	0.23575|.	N|.	0.046701|.	T|T	0.55893|0.55893	0.1949|0.1949	L|L	0.50993|0.50993	1.605|1.605	0.32454|0.32454	N|N	0.545004|0.545004	P;P;P;P;P;B|.	0.52692|.	0.819;0.955;0.679;0.863;0.629;0.197|.	B;P;B;P;B;B|.	0.45712|.	0.433;0.491;0.266;0.484;0.173;0.068|.	T|T	0.63808|0.63808	-0.6553|-0.6553	10|5	0.26408|.	T|.	0.33|.	.|.	12.4632|12.4632	0.55743|0.55743	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	703;418;675;792;792;222|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	A|C	792;792;222;418;703|442	ENSP00000326647:G792A;ENSP00000301873:G792A;ENSP00000435530:G222A;ENSP00000441912:G418A;ENSP00000435276:G703A|.	ENSP00000301873:G792A|.	G|W	-|-	2|3	0|0	LTBP3|LTBP3	65067575|65067575	0.002000|0.002000	0.14202|0.14202	0.487000|0.487000	0.27428|0.27428	0.016000|0.016000	0.09150|0.09150	1.784000|1.784000	0.38674|0.38674	1.974000|1.974000	0.57490|0.57490	0.557000|0.557000	0.71058|0.71058	GGG|TGG		0.577	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		G	65310999	C	G	65310999	3	3	441	1	0	0	0	0	1	0	0	0	9075	623	22	3	1584	3	LTBP3	11	65310999	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	2718440	65310999	69695517	56	24502											
KDM2A	22992	genome.wustl.edu	37	11	67021790	67021790	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr11:67021790G>A	ENST00000529006.2	+	20	3654	c.3208G>A	c.(3208-3210)Gac>Aac	p.D1070N	KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.D631N|KDM2A_ENST00000308783.5_Missense_Mutation_p.D528N	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1070					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GTCTCGACTCGACCTCAGTCA	0.562																																																0			11											160	157	158					11																	67021790		2190	4275	6465	66778366	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3208G>A	11.37:g.67021790G>A	ENSP00000432786:p.Asp1070Asn		66778366	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298223	0.95574	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.61510	0.1;0.1;0.1	5.17	5.17	0.71159	.	0.045466	0.85682	D	0.000000	T	0.71592	0.3358	L	0.58428	1.81	0.80722	D	1	P;D;D	0.89917	0.899;1.0;0.999	P;D;P	0.66602	0.49;0.945;0.894	T	0.67581	-0.5634	10	0.31617	T	0.26	-19.3866	18.8464	0.92209	0.0:0.0:1.0:0.0	.	631;528;1070	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	N	1070;631;528	ENSP00000432786:D1070N;ENSP00000435776:D631N;ENSP00000309302:D528N	ENSP00000309302:D528N	D	+	1	0	KDM2A	66778366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.780000	0.85658	2.674000	0.91012	0.655000	0.94253	GAC		0.562	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		A	67021790	G	A	67021790	3	1	441	1	0	0	0	0	1	0	0	0	8124	1058	37	1	3282	1	KDM2A	11	67021790	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	1710791	67021790	67984726	57	24503											
MMP13	4322	genome.wustl.edu	37	11	102818678	102818678	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr11:102818678C>A	ENST00000260302.3	-	8	1181	c.1153G>T	c.(1153-1155)Gct>Tct	p.A385S	MMP13_ENST00000340273.4_Missense_Mutation_p.A385S	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	385	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AAGTGAACAGCTGCACTTATC	0.433																																																0			11											134	112	119					11																	102818678		2202	4299	6501	102323888	SO:0001583	missense	4322			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1153G>T	11.37:g.102818678C>A	ENSP00000260302:p.Ala385Ser		102323888	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	c	26.7	4.761730	0.89932	.	.	ENSG00000137745	ENST00000260302;ENST00000340273	T;T	0.38722	1.12;3.31	5.82	4.91	0.64330	Hemopexin/matrixin (2);	0.094101	0.64402	D	0.000001	T	0.68495	0.3007	M	0.87328	2.875	0.58432	D	0.999999	D	0.57899	0.981	D	0.69824	0.966	T	0.75181	-0.3408	10	0.66056	D	0.02	.	15.1696	0.72862	0.0:0.9326:0.0:0.0674	.	385	P45452	MMP13_HUMAN	S	385	ENSP00000260302:A385S;ENSP00000339672:A385S	ENSP00000260302:A385S	A	-	1	0	MMP13	102323888	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.046000	0.71029	1.482000	0.48325	-0.119000	0.15052	GCT		0.433	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		A	102818678	C	A	102818678	3	1	441	1	0	0	0	0	1	0	0	0	9652	797	28	3	274	3	MMP13	11	102818678	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	35796888	102818678	32187838	58	24504											
KLRK1	22914	genome.wustl.edu	37	12	10532070	10532070	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr12:10532070G>C	ENST00000240618.6	-	5	393	c.253C>G	c.(253-255)Caa>Gaa	p.Q85E	RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Missense_Mutation_p.Q85E	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	85					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TGAACTTCTTGGTTGAATAAT	0.249																																																0			12											18	19	19					12																	10532070		2154	4225	6379	10423337	SO:0001583	missense	22914			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.253C>G	12.37:g.10532070G>C	ENSP00000240618:p.Gln85Glu		10423337	A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	ENST00000240618.6	37	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794469	0.31777	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.01414	4.92;4.92	5.65	0.166	0.14999	.	1.261320	0.05503	N	0.558842	T	0.01627	0.0052	L	0.42744	1.35	0.09310	N	1	P;P	0.40794	0.729;0.495	B;B	0.38616	0.277;0.095	T	0.44682	-0.9312	10	0.05620	T	0.96	.	9.6197	0.39714	0.0:0.125:0.3352:0.5399	.	66;85	Q1HEA1;P26718	.;NKG2D_HUMAN	E	85	ENSP00000240618:Q85E;ENSP00000446003:Q85E	ENSP00000240618:Q85E	Q	-	1	0	KLRK1	10423337	0.012000	0.17670	0.411000	0.26484	0.915000	0.54546	0.462000	0.21956	0.023000	0.15187	0.585000	0.79938	CAA		0.249	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360		C	10532070	G	C	10532070	3	2	441	1	0	0	0	0	1	0	0	0	8423	1357	47	3	413	3	KLRK1	12	10532070	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09		10532070	123319825	59	24505											
ADCY6	112	genome.wustl.edu	37	12	49167414	49167414	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr12:49167414A>G	ENST00000307885.4	-	15	3153	c.2459T>C	c.(2458-2460)aTg>aCg	p.M820T	ADCY6_ENST00000552090.1_5'Flank|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Missense_Mutation_p.M767T|ADCY6_ENST00000357869.3_Missense_Mutation_p.M767T	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	820					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACTCAGCAGCATGTTCCCGAT	0.587																																																0			12											83	75	78					12																	49167414		2203	4300	6503	47453681	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2459T>C	12.37:g.49167414A>G	ENSP00000311405:p.Met820Thr		47453681	Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	A	9.683	1.149912	0.21371	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;T	0.88277	-2.36;-2.36;-1.14	5.42	4.28	0.50868	.	0.416822	0.25897	N	0.027593	T	0.80989	0.4730	N	0.24115	0.695	0.26138	N	0.980321	B;B;B	0.30584	0.286;0.015;0.004	B;B;B	0.31290	0.127;0.016;0.007	T	0.71213	-0.4659	10	0.39692	T	0.17	.	10.6208	0.45478	0.923:0.0:0.077:0.0	.	51;767;820	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	T	767;767;820	ENSP00000350536:M767T;ENSP00000446730:M767T;ENSP00000311405:M820T	ENSP00000311405:M820T	M	-	2	0	ADCY6	47453681	0.994000	0.37717	0.853000	0.33588	0.239000	0.25481	5.105000	0.64591	1.020000	0.39573	-0.315000	0.08773	ATG		0.587	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		G	49167414	A	G	49167414	3	3	441	1	0	0	0	0	1	0	0	0	298	217	8	4	1075	4	ADCY6	12	49167414	Missense_Mutation	SNP	A	TCGA-61-1915-01A-01W-0639-09	38635344	49167414	84684481	60	24506											
NCKAP1L	3071	genome.wustl.edu	37	12	54894409	54894409	+	Splice_Site	SNP	G	G	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr12:54894409G>T	ENST00000293373.6	+	3	385	c.306G>T	c.(304-306)cgG>cgT	p.R102R	RP11-753H16.3_ENST00000550474.1_RNA|NCKAP1L_ENST00000545638.2_Splice_Site_p.R52R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	102					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGAATTTCGGGTGAGCTCTC	0.393																																																0			12											142	132	135					12																	54894409		2203	4300	6503	53180676	SO:0001630	splice_region_variant	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.306+1G>T	12.37:g.54894409G>T			53180676	B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	CCDS31813.1																																																																																				0.393	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	Silent	T	54894409	G	T	54894409	5	4	441	1	0	0	0	0	0	0	1	0	10222	1246	43	3	316	3	NCKAP1L	12	54894409	Splice_Site	SNP	G	TCGA-61-1915-01A-01W-0639-09	5726995	54894409	78957486	61	24507											
ZMYM2	7750	genome.wustl.edu	37	13	20567974	20567974	+	Silent	SNP	T	T	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr13:20567974T>C	ENST00000382874.2	+	4	952	c.762T>C	c.(760-762)acT>acC	p.T254T	ZMYM2_ENST00000382871.2_Silent_p.T254T|ZMYM2_ENST00000382869.3_Silent_p.T254T|ZMYM2_ENST00000382881.3_Silent_p.T167T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGACCAAGACTGGAGTAGGAC	0.403																																																0			13											122	124	123					13																	20567974		2203	4300	6503	19465974	SO:0001819	synonymous_variant	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.762T>C	13.37:g.20567974T>C			19465974	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	CCDS45016.1																																																																																				0.403	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		C	20567974	T	C	20567974	2	2	441	1	0	0	0	0	0	0	0	1	17700	1567	55	4		4	ZMYM2	13	20567974	Silent	SNP	T	TCGA-61-1915-01A-01W-0639-09		20567974	94601904	62	24508											
LRCH1	23143	genome.wustl.edu	37	13	47303052	47303052	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr13:47303052T>C	ENST00000389798.3	+	17	2032	c.1835T>C	c.(1834-1836)cTc>cCc	p.L612P	LRCH1_ENST00000311191.6_Missense_Mutation_p.L612P|LRCH1_ENST00000389797.3_Missense_Mutation_p.L647P	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	612	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GGTGTCGTCCTCTGCCATCTG	0.517																																																0			13											143	127	133					13																	47303052		2203	4300	6503	46201053	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1835T>C	13.37:g.47303052T>C	ENSP00000374448:p.Leu612Pro		46201053	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.441684	0.83993	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	D;D;D	0.97811	-4.55;-4.55;-4.55	5.81	5.81	0.92471	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99257	1.0889	10	0.87932	D	0	-0.4072	14.1039	0.65075	0.0:0.0:0.0:1.0	.	612;647;612	Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;LRCH1_HUMAN	P	612;612;647	ENSP00000308493:L612P;ENSP00000374448:L612P;ENSP00000374447:L647P	ENSP00000308493:L612P	L	+	2	0	LRCH1	46201053	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.361000	0.79497	2.216000	0.71823	0.533000	0.62120	CTC		0.517	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		C	47303052	T	C	47303052	3	2	441	1	0	0	0	0	1	0	0	0	8932	1551	54	4	2010	4	LRCH1	13	47303052	Missense_Mutation	SNP	T	TCGA-61-1915-01A-01W-0639-09	26735078	47303052	67866826	63	24509											
AP1G2	8906	genome.wustl.edu	37	14	24036403	24036403	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr14:24036403C>T	ENST00000308724.5	-	1	876	c.121G>A	c.(121-123)Gac>Aac	p.D41N	AP1G2_ENST00000397120.3_Missense_Mutation_p.D41N|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	41					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGTCCCCGTCGCGGAAGGAG	0.627											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			14											69	59	62					14																	24036403		2203	4300	6503	23106243	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.121G>A	14.37:g.24036403C>T	ENSP00000312442:p.Asp41Asn	768	23106243	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584522	0.86748	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189;ENST00000556843	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	4.09	4.09	0.47781	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.181583	0.48286	D	0.000185	T	0.18045	0.0433	L	0.52011	1.625	0.80722	D	1	P	0.52170	0.951	P	0.46320	0.512	T	0.01512	-1.1336	10	0.49607	T	0.09	-5.6325	14.1527	0.65398	0.0:1.0:0.0:0.0	.	41	O75843	AP1G2_HUMAN	N	41	ENSP00000312442:D41N;ENSP00000380309:D41N;ENSP00000452153:D41N;ENSP00000451504:D41N	ENSP00000312442:D41N	D	-	1	0	AP1G2	23106243	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	4.172000	0.58243	2.273000	0.75805	0.436000	0.28706	GAC		0.627	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		T	24036403	C	T	24036403	3	4	441	1	0	0	0	0	1	0	0	0	733	884	31	1	2320	1	AP1G2	14	24036403	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09		24036403	83313137	64	24510											
TRPM1	4308	genome.wustl.edu	37	15	31338416	31338416	+	Silent	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr15:31338416C>T	ENST00000256552.6	-	16	1932	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	TRPM1_ENST00000542188.1_Silent_p.L612L|TRPM1_ENST00000397795.2_Silent_p.L573L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTCCATTCCCAGAAGTTTAA	0.308																																																0			15											79	75	76					15																	31338416		1807	4083	5890	29125708	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1785G>A	15.37:g.31338416C>T			29125708		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.308	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31338416	C	T	31338416	2	4	441	1	0	0	0	0	0	0	0	1	16585	581	21	2		2	TRPM1	15	31338416	Silent	SNP	C	TCGA-61-1915-01A-01W-0639-09		31338416	71192976	65	24511											
AQR	9716	genome.wustl.edu	37	15	35210572	35210572	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr15:35210572C>G	ENST00000156471.5	-	15	1454	c.1229G>C	c.(1228-1230)cGt>cCt	p.R410P		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	410					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACGTTCATGACGAGATACCTA	0.343																																																0			15											82	73	76					15																	35210572		1839	4089	5928	32997864	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1229G>C	15.37:g.35210572C>G	ENSP00000156471:p.Arg410Pro		32997864	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893146	0.72524	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93712	-3.27	4.74	4.74	0.60224	.	0.097598	0.64402	D	0.000001	D	0.95169	0.8434	M	0.66939	2.045	0.50632	D	0.999888	D	0.64830	0.994	P	0.58391	0.838	D	0.93850	0.7144	10	0.29301	T	0.29	-13.4226	17.925	0.88980	0.0:1.0:0.0:0.0	.	410	O60306	AQR_HUMAN	P	410	ENSP00000156471:R410P	ENSP00000156471:R410P	R	-	2	0	AQR	32997864	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.670000	0.61583	2.474000	0.83562	0.491000	0.48974	CGT		0.343	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		G	35210572	C	G	35210572	3	3	441	1	0	0	0	0	1	0	0	0	835	536	19	3	3312	3	AQR	15	35210572	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	3872156	35210572	67320820	66	24512											
SPG11	80208	genome.wustl.edu	37	15	44876154	44876154	+	Silent	SNP	G	G	A	rs369869911		TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr15:44876154G>A	ENST00000261866.7	-	30	5740	c.5724C>T	c.(5722-5724)gtC>gtT	p.V1908V	SPG11_ENST00000427534.2_Silent_p.V1908V|SPG11_ENST00000535302.2_Silent_p.V1908V|SPG11_ENST00000558319.1_Silent_p.V1908V|SPG11_ENST00000558253.1_5'Flank	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1908					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATACCAAGGCGACATCTGGAT	0.483																																																0			15											104	95	98					15																	44876154		2198	4298	6496	42663446	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5724C>T	15.37:g.44876154G>A			42663446	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.483	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44876154	G	A	44876154	2	1	441	1	0	0	0	0	0	0	0	1	15043	1045	37	1		1	SPG11	15	44876154	Silent	SNP	G	TCGA-61-1915-01A-01W-0639-09	9665582	44876154	57655238	67	24513											
SPPL2A	84888	genome.wustl.edu	37	15	51032026	51032026	+	Splice_Site	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr15:51032026C>T	ENST00000261854.5	-	6	859		c.e6-1			NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CAAGTTTTCCCTGTACAAACA	0.308																																					Melanoma(50;790 1209 4069 22965 33125)											0			15											82	82	82					15																	51032026		2195	4291	6486	48819318	SO:0001630	splice_region_variant	84888				CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.585-1G>A	15.37:g.51032026C>T			48819318	B2RDS0|Q8TAW1|Q96SZ8	Splice_Site	SNP	ENST00000261854.5	37	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171690	0.38315	.	.	ENSG00000138600	ENST00000261854	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6017	0.95566	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC012100.1	48819318	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	3.938000	0.56583	2.622000	0.88805	0.655000	0.94253	.		0.308	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802	Intron	T	51032026	C	T	51032026	5	4	441	1	0	0	0	0	0	0	1	0	15090	695	24	2	1018	2	SPPL2A	15	51032026	Splice_Site	SNP	C	TCGA-61-1915-01A-01W-0639-09	6155872	51032026	51499366	68	24514											
RCN2	5955	genome.wustl.edu	37	15	77239811	77239811	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr15:77239811G>A	ENST00000394885.3	+	5	834	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RCN2_ENST00000320963.5_Missense_Mutation_p.G222E|RCN2_ENST00000394883.3_Missense_Mutation_p.G103E	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	204	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						AATGGTGATGGATTTGTTAGT	0.333																																																0			15											136	140	138					15																	77239811		2196	4294	6490	75026866	SO:0001583	missense	5955			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"EF-hand domain containing"	9935	protein-coding gene	gene with protein product	"Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.611G>A	15.37:g.77239811G>A	ENSP00000378349:p.Gly204Glu		75026866	A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	37	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839933	0.91117	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	D;D;D	0.96992	-4.2;-4.2;-4.2	5.18	5.18	0.71444	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.99174	1.0865	10	0.87932	D	0	-24.4384	18.6864	0.91565	0.0:0.0:1.0:0.0	.	103;222;204	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	E	204;222;103	ENSP00000378349:G204E;ENSP00000319739:G222E;ENSP00000378347:G103E	ENSP00000319739:G222E	G	+	2	0	RCN2	75026866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.534000	0.90620	2.422000	0.82143	0.585000	0.79938	GGA		0.333	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902		A	77239811	G	A	77239811	3	1	441	1	0	0	0	0	1	0	0	0	13183	1174	41	2	629	2	RCN2	15	77239811	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	26207785	77239811	25291581	69	24515											
BTBD12	84464	genome.wustl.edu	37	16	3658570	3658570	+	Silent	SNP	T	T	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr16:3658570T>C	ENST00000294008.3	-	2	1036	c.396A>G	c.(394-396)gaA>gaG	p.E132E		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	132	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGTGGGCCGGTTCACTTGCTT	0.567								Direct reversal of damage																																								0			16											101	97	98					16																	3658570		2197	4300	6497	3598571	SO:0001819	synonymous_variant	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.396A>G	16.37:g.3658570T>C			3598571	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.567	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		C	3658570	T	C	3658570	2	2	441	1	0	0	0	0	0	0	0	1	1540	1722	60	4		4	BTBD12	16	3658570	Silent	SNP	T	TCGA-61-1915-01A-01W-0639-09		3658570	86696183	70	24516											
MKL2	57496	genome.wustl.edu	37	16	14340848	14340849	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	AG	AG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr16:14340848_14340849delAG	ENST00000341243.5	+	10	1698_1699	c.1698_1699delAG	c.(1696-1701)aaagagfs	p.E567fs	MKL2_ENST00000571589.1_Frame_Shift_Del_p.E578fs|MKL2_ENST00000318282.5_Frame_Shift_Del_p.E578fs|MKL2_ENST00000574045.1_Frame_Shift_Del_p.E578fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	567	Required for interaction with itself and with MKL1.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCAGGAGAAAGAGAAGCAAAT	0.475																																																0			16																																								14248350	SO:0001589	frameshift_variant	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1698_1699delAG	16.37:g.14340850_14340851delAG	ENSP00000345841:p.Glu567fs		14248349	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Del	DEL	ENST00000341243.5	37																																																																																					0.475	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		-	14340849	AG	-	14340848	7	5	441	1	0	1	0	1	0	0	0	0	9602	69	3	0	1769	0	MKL2	16	14340848	Frame_Shift_Del	DEL	AG	TCGA-61-1915-01A-01W-0639-09	10682278	14340848	76013905	71	24517											
HS3ST4	9951	genome.wustl.edu	37	16	26147165	26147165	+	Silent	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr16:26147165C>T	ENST00000331351.5	+	2	1359	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	323					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GACCCTCGGGCTGATCGATGC	0.552																																																0			16											183	172	176					16																	26147165		1568	3582	5150	26054666	SO:0001819	synonymous_variant	9951			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.967C>T	16.37:g.26147165C>T			26054666	Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	CCDS53995.1																																																																																				0.552	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		T	26147165	C	T	26147165	2	4	441	1	0	0	0	0	0	0	0	1	7367	796	28	2		2	HS3ST4	16	26147165	Silent	SNP	C	TCGA-61-1915-01A-01W-0639-09	11806317	26147165	64207588	72	24518											
CLN3	1201	genome.wustl.edu	37	16	28499048	28499048	+	Silent	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr16:28499048C>T	ENST00000569430.1	-	7	1128	c.309G>A	c.(307-309)gcG>gcA	p.A103A	CLN3_ENST00000395653.4_Intron|CLN3_ENST00000567963.1_Silent_p.A103A|CLN3_ENST00000568224.1_Silent_p.A25A|CLN3_ENST00000535392.1_Silent_p.A25A|CLN3_ENST00000357076.5_Silent_p.A103A|CLN3_ENST00000354630.5_Silent_p.A103A|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000357857.9_Silent_p.A49A|CLN3_ENST00000565316.1_Silent_p.A103A|CLN3_ENST00000360019.2_Silent_p.A103A|CLN3_ENST00000355477.5_Silent_p.A103A|CLN3_ENST00000359984.7_Silent_p.A103A|CLN3_ENST00000333496.9_Silent_p.A79A			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	103					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGAGGATGTCCGCCAGGAGCA	0.622																																																0			16											103	70	81					16																	28499048		2197	4300	6497	28406549	SO:0001819	synonymous_variant	1201			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.309G>A	16.37:g.28499048C>T			28406549	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	CCDS10632.1																																																																																				0.622	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			T	28499048	C	T	28499048	2	4	441	1	0	0	0	0	0	0	0	1	3543	639	23	1		1	CLN3	16	28499048	Silent	SNP	C	TCGA-61-1915-01A-01W-0639-09	2351883	28499048	61855705	73	24519											
FAM57B	83723	genome.wustl.edu	37	16	30037081	30037081	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr16:30037081G>C	ENST00000380495.4	-	4	1237	c.506C>G	c.(505-507)aCg>aGg	p.T169R	FAM57B_ENST00000279389.4_Missense_Mutation_p.T119R|FAM57B_ENST00000564806.1_Missense_Mutation_p.T119R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	169	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GACGAAGGGCGTGCTGACCTC	0.602																																																0			16											182	170	174					16																	30037081		2197	4300	6497	29944582	SO:0001583	missense	83723			AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.506C>G	16.37:g.30037081G>C	ENSP00000369863:p.Thr169Arg		29944582	Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	CCDS10667.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.007447|5.007447	0.93287|0.93287	.|.	.|.	ENSG00000149926|ENSG00000149926	ENST00000279389|ENST00000380495	.|D	.|0.87334	.|-2.24	5.17|5.17	5.17|5.17	0.71159|0.71159	.|TRAM/LAG1/CLN8 homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94328|0.94328	0.8177|0.8177	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.996	D|D	0.95203|0.95203	0.8318|0.8318	5|10	.|0.87932	.|D	.|0	-14.1907|-14.1907	17.439|17.439	0.87560|0.87560	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|169;169	.|F1T0F5;Q71RH2	.|.;FA57B_HUMAN	G|R	136|169	.|ENSP00000369863:T169R	.|ENSP00000369863:T169R	R|T	-|-	1|2	0|0	FAM57B|FAM57B	29944582|29944582	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.939000|0.939000	0.58152|0.58152	9.764000|9.764000	0.98949|0.98949	2.408000|2.408000	0.81797|0.81797	0.561000|0.561000	0.74099|0.74099	CGC|ACG		0.602	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		C	30037081	G	C	30037081	3	2	441	1	0	0	0	0	1	0	0	0	5589	1145	40	3	326	3	FAM57B	16	30037081	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	1538033	30037081	60317672	74	24520											
BBS2	583	genome.wustl.edu	37	16	56530881	56530881	+	Silent	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr16:56530881G>A	ENST00000245157.5	-	15	2328	c.1908C>T	c.(1906-1908)gaC>gaT	p.D636D	BBS2_ENST00000568104.1_Silent_p.D590D	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	636					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ATACTCACATGTCCCTCATCA	0.413									Bardet-Biedl syndrome																																							0			16											133	111	118					16																	56530881		2198	4300	6498	55088382	SO:0001819	synonymous_variant	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1908C>T	16.37:g.56530881G>A			55088382	Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	CCDS32451.1																																																																																				0.413	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		A	56530881	G	A	56530881	2	1	441	1	0	0	0	0	0	0	0	1	1338	1368	48	2		2	BBS2	16	56530881	Silent	SNP	G	TCGA-61-1915-01A-01W-0639-09	26493800	56530881	33823872	75	24521											
CNGB1	1258	genome.wustl.edu	37	16	57921795	57921795	+	Silent	SNP	C	C	T	rs540706326		TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr16:57921795C>T	ENST00000251102.8	-	32	3486	c.3426G>A	c.(3424-3426)ctG>ctA	p.L1142L	CNGB1_ENST00000564448.1_Silent_p.L1136L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1142					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGCCGCCTCCAGCGCGGCCA	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		18002	0		0	False		,,,				2504	0				Colon(156;1293 1853 16336 28962 38659)											0			16											81	86	84					16																	57921795		1889	4108	5997	56479296	SO:0001819	synonymous_variant	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3426G>A	16.37:g.57921795C>T			56479296	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																				0.582	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		T	57921795	C	T	57921795	2	4	441	1	0	0	0	0	0	0	0	1	3600	581	21	2		2	CNGB1	16	57921795	Silent	SNP	C	TCGA-61-1915-01A-01W-0639-09	1390914	57921795	32432958	76	24522											
RLTPR	146206	genome.wustl.edu	37	16	67680615	67680615	+	Splice_Site	SNP	A	A	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr16:67680615A>T	ENST00000334583.6	+	7	794		c.e7-1		RLTPR_ENST00000545661.1_Splice_Site	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing						cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCCCCTCCCCAGGTGGCTTCT	0.552																																																0			16											100	101	101					16																	67680615		2007	4206	6213	66238116	SO:0001630	splice_region_variant	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.467-1A>T	16.37:g.67680615A>T			66238116	B8X2Z3	Splice_Site	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.025520	0.75390	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0156	0.64523	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RLTPR	66238116	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	8.601000	0.90864	2.118000	0.64928	0.459000	0.35465	.		0.552	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	Intron	T	67680615	A	T	67680615	5	4	441	1	0	0	0	0	0	0	1	0	13397	202	7	5	491	5	RLTPR	16	67680615	Splice_Site	SNP	A	TCGA-61-1915-01A-01W-0639-09	9758820	67680615	22674138	77	24523											
CALB2	794	genome.wustl.edu	37	16	71406134	71406134	+	Splice_Site	SNP	T	T	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr16:71406134T>A	ENST00000302628.4	+	2	248		c.e2+2		CALB2_ENST00000349553.5_Splice_Site	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2						cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TCTGGCATGGTAAGCCCAGCC	0.453																																																0			16											73	78	76					16																	71406134		2198	4300	6498	69963635	SO:0001630	splice_region_variant	794			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.171+2T>A	16.37:g.71406134T>A			69963635	A8K4Y1|Q53HD2|Q96BK4	Splice_Site	SNP	ENST00000302628.4	37	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.268002	0.80469	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1052	0.72315	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CALB2	69963635	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.528000	0.73807	2.186000	0.69663	0.533000	0.62120	.		0.453	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740	Intron	A	71406134	T	A	71406134	5	1	441	1	0	0	0	0	0	0	1	0	2574	1652	57	5	179	5	CALB2	16	71406134	Splice_Site	SNP	T	TCGA-61-1915-01A-01W-0639-09	3725519	71406134	18948619	78	24524											
TP53	7157	genome.wustl.edu	37	17	7578188	7578188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr17:7578188C>A	ENST00000269305.4	-	6	850	c.661G>T	c.(661-663)Gag>Tag	p.E221*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E221*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E221*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E221*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E221*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E221*	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	221	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E221*(14)|p.?(11)|p.0?(8)|p.E221fs*4(3)|p.E128*(3)|p.E221K(2)|p.Y220_P223delYEPP(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.E221fs*26(1)|p.V218fs*26(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)	TCAGGCGGCTCATAGGGCACC	0.552		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"	48	Substitution - Nonsense(17)|Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Insertion - Frameshift(3)|Substitution - Missense(2)	upper_aerodigestive_tract(9)|biliary_tract(5)|endometrium(5)|urinary_tract(5)|lung(5)|bone(4)|central_nervous_system(3)|oesophagus(2)|ovary(2)|vulva(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|salivary_gland(1)|breast(1)|skin(1)|large_intestine(1)|liver(1)	17											100	92	94					17																	7578188		2203	4300	6503	7518913	SO:0001587	stop_gained	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.661G>T	17.37:g.7578188C>A	ENSP00000269305:p.Glu221*		7518913	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353387	0.95830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.6014	12.2235	0.54447	0.0:0.9162:0.0:0.0838	.	.	.	.	X	221;221;221;221;221;221;210;128;89;128	.	ENSP00000269305:E221X	E	-	1	0	TP53	7518913	1.000000	0.71417	0.299000	0.25016	0.996000	0.88848	6.045000	0.71020	1.364000	0.46038	0.563000	0.77884	GAG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578188	C	A	7578188	4	1	441	1	0	0	0	0	0	1	0	0	16381	835	29	3	633	3	TP53	17	7578188	Nonsense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09		7578188	73617022	79	24525											
TNFRSF11A	8792	genome.wustl.edu	37	18	60025544	60025544	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr18:60025544C>T	ENST00000586569.1	+	5	529	c.491C>T	c.(490-492)tCc>tTc	p.S164F	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.S164F	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	164					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GATGCCTTTTCCTCCACGGAC	0.448																																																0			18											138	131	133					18																	60025544		2203	4300	6503	58176524	SO:0001583	missense	8792			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.491C>T	18.37:g.60025544C>T	ENSP00000465500:p.Ser164Phe		58176524	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955347	0.53293	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.71934	-0.61	5.84	5.84	0.93424	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.000000	0.64402	D	0.000001	D	0.88396	0.6425	M	0.92219	3.285	0.48511	D	0.999669	D;D	0.89917	1.0;1.0	D;D	0.72625	0.967;0.978	D	0.90064	0.4158	9	.	.	.	-19.6756	19.7297	0.96177	0.0:1.0:0.0:0.0	.	186;164	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	F	186;164	ENSP00000269485:S164F	.	S	+	2	0	TNFRSF11A	58176524	0.997000	0.39634	0.454000	0.27019	0.107000	0.19398	4.759000	0.62227	2.763000	0.94921	0.557000	0.71058	TCC		0.448	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			T	60025544	C	T	60025544	3	4	441	1	0	0	0	0	1	0	0	0	16284	855	30	2	509	2	TNFRSF11A	18	60025544	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09		60025544	18051704	80	24526											
PSMF1	9491	genome.wustl.edu	37	20	1115936	1115936	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr20:1115936C>T	ENST00000335877.6	+	4	714	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	PSMF1_ENST00000246015.4_Missense_Mutation_p.R180W|PSMF1_ENST00000381898.4_Missense_Mutation_p.R92W|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.R180W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	180	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						ACACACCAGTCGGCAGCCTCC	0.612																																																0			20											50	47	48					20																	1115936		2203	4300	6503	1063936	SO:0001583	missense	9491			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.538C>T	20.37:g.1115936C>T	ENSP00000338039:p.Arg180Trp		1063936	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	CCDS13010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.35|11.35	1.613229|1.613229	0.28712|0.28712	.|.	.|.	ENSG00000125818|ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877|ENST00000435720	T;T;T;T;T|T	0.48201|0.51071	1.4;0.82;1.15;1.39;1.4|0.72	5.22|5.22	2.06|2.06	0.26882|0.26882	.|.	0.318100|.	0.29113|.	N|.	0.013103|.	T|T	0.49745|0.49745	0.1575|0.1575	L|L	0.60455|0.60455	1.87|1.87	0.42198|0.42198	D|D	0.991756|0.991756	B;B;P;P|.	0.35745|.	0.116;0.06;0.518;0.518|.	B;B;B;B|.	0.27076|.	0.017;0.029;0.076;0.076|.	T|T	0.43782|0.43782	-0.9370|-0.9370	10|7	0.38643|0.39692	T|T	0.18|0.17	-1.7711|-1.7711	7.4716|7.4716	0.27353|0.27353	0.2898:0.6311:0.0:0.0791|0.2898:0.6311:0.0:0.0791	.|.	92;92;180;180|.	F5H4Z3;B4DUJ0;Q5QPM7;Q92530|.	.;.;.;PSMF1_HUMAN|.	W|L	180;92;180;92;180;180|39	ENSP00000327704:R180W;ENSP00000371323:R92W;ENSP00000371324:R180W;ENSP00000246015:R180W;ENSP00000338039:R180W|ENSP00000396547:S39L	ENSP00000246015:R180W|ENSP00000396547:S39L	R|S	+|+	1|2	2|0	PSMF1|PSMF1	1063936|1063936	0.995000|0.995000	0.38212|0.38212	0.986000|0.986000	0.45419|0.45419	0.506000|0.506000	0.33950|0.33950	0.259000|0.259000	0.18405|0.18405	0.761000|0.761000	0.33130|0.33130	-0.157000|-0.157000	0.13467|0.13467	CGG|TCG		0.612	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		T	1115936	C	T	1115936	3	4	441	1	0	0	0	0	1	0	0	0	12713	875	31	1	552	1	PSMF1	20	1115936	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09		1115936	61909584	81	24527											
SDCBP2	27111	genome.wustl.edu	37	20	1293341	1293341	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr20:1293341G>C	ENST00000360779.3	-	6	623	c.450C>G	c.(448-450)gaC>gaG	p.D150E	SDCBP2_ENST00000381812.1_Missense_Mutation_p.D150E|SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381808.3_Missense_Mutation_p.D65E|SDCBP2_ENST00000339987.3_Missense_Mutation_p.D150E	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	150	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GCAGGAGCTGGTCCCCAAAGC	0.622																																																0			20											62	57	59					20																	1293341		2203	4300	6503	1241341	SO:0001583	missense	27111			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.450C>G	20.37:g.1293341G>C	ENSP00000354013:p.Asp150Glu		1241341	O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Missense_Mutation	SNP	ENST00000360779.3	37	CCDS42848.1	.	.	.	.	.	.	.	.	.	.	g	18.02	3.529947	0.64860	.	.	ENSG00000125775	ENST00000381812;ENST00000381808;ENST00000360779;ENST00000339987	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	4.51	3.53	0.40419	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.88566	0.6471	H	0.96691	3.865	0.48185	D	0.999602	D	0.62365	0.991	D	0.70487	0.969	D	0.88623	0.3164	10	0.87932	D	0	-17.5952	7.299	0.26409	0.2835:0.0:0.7165:0.0	.	150	Q9H190	SDCB2_HUMAN	E	150;65;150;150	ENSP00000371233:D150E;ENSP00000371229:D65E;ENSP00000354013:D150E;ENSP00000342935:D150E	ENSP00000342935:D150E	D	-	3	2	SDCBP2	1241341	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.541000	0.45735	1.167000	0.42706	0.561000	0.74099	GAC		0.622	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489		C	1293341	G	C	1293341	3	2	441	1	0	0	0	0	1	0	0	0	13959	1252	44	3	444	3	SDCBP2	20	1293341	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	177405	1293341	61732179	82	24528											
RIN2	54453	genome.wustl.edu	37	20	19955642	19955642	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr20:19955642C>G	ENST00000255006.6	+	8	1269	c.1120C>G	c.(1120-1122)Ctg>Gtg	p.L374V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	325					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AAGCCCTCGGCTGGCCAGGAC	0.597																																																0			20											86	91	89					20																	19955642		1967	4161	6128	19903642	SO:0001583	missense	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1120C>G	20.37:g.19955642C>G	ENSP00000255006:p.Leu374Val		19903642	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554283	0.27739	.	.	ENSG00000132669	ENST00000255006	T	0.08984	3.03	5.59	4.59	0.56863	.	0.722424	0.12668	N	0.449003	T	0.10252	0.0251	L	0.57536	1.79	0.80722	D	1	P	0.35077	0.483	B	0.25140	0.058	T	0.20874	-1.0262	9	.	.	.	-10.6311	15.5953	0.76574	0.0:0.862:0.138:0.0	.	325	Q8WYP3	RIN2_HUMAN	V	374	ENSP00000255006:L374V	.	L	+	1	2	RIN2	19903642	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.929000	0.40114	2.628000	0.89032	0.655000	0.94253	CTG		0.597	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			G	19955642	C	G	19955642	3	3	441	1	0	0	0	0	1	0	0	0	13375	796	28	3	999	3	RIN2	20	19955642	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	18662301	19955642	43069878	83	24529											
ZNF337	26152	genome.wustl.edu	37	20	25657433	25657433	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr20:25657433T>C	ENST00000376436.1	-	4	1030	c.491A>G	c.(490-492)gAa>gGa	p.E164G	RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.E132G|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.E164G|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTGTCTATTTCTGTAGGATT	0.448																																																0			20											173	166	168					20																	25657433		2203	4300	6503	25605433	SO:0001583	missense	26152				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.491A>G	20.37:g.25657433T>C	ENSP00000365619:p.Glu164Gly		25605433	B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608035	0.28623	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.07021	3.3;3.3;3.23	1.13	1.13	0.20643	.	.	.	.	.	T	0.06690	0.0171	L	0.49778	1.585	0.09310	N	1	B;B	0.31931	0.347;0.347	B;B	0.17722	0.013;0.019	T	0.32851	-0.9891	9	0.28530	T	0.3	.	6.4437	0.21865	0.0:0.0:0.0:1.0	.	132;164	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	G	164;164;164;132	ENSP00000365619:E164G;ENSP00000252979:E164G;ENSP00000442181:E132G	ENSP00000252979:E164G	E	-	2	0	ZNF337	25605433	0.008000	0.16893	0.005000	0.12908	0.749000	0.42624	0.500000	0.22562	0.766000	0.33244	0.254000	0.18369	GAA		0.448	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			C	25657433	T	C	25657433	3	2	441	1	0	0	0	0	1	0	0	0	17853	1783	62	4	1768	4	ZNF337	20	25657433	Missense_Mutation	SNP	T	TCGA-61-1915-01A-01W-0639-09	5701791	25657433	37368087	84	24530											
B4GALT5	9334	genome.wustl.edu	37	20	48256272	48256272	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr20:48256272T>C	ENST00000371711.4	-	7	1047	c.860A>G	c.(859-861)aAt>aGt	p.N287S		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	287					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AGGAAAGCCATTGATTTTCCG	0.478																																																0			20											171	158	162					20																	48256272		2203	4300	6503	47689679	SO:0001583	missense	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.860A>G	20.37:g.48256272T>C	ENSP00000360776:p.Asn287Ser		47689679	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791094	0.90367	.	.	ENSG00000158470	ENST00000371711	T	0.37411	1.2	5.21	5.21	0.72293	.	0.041659	0.85682	D	0.000000	T	0.70378	0.3217	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80204	-0.1479	10	0.87932	D	0	-24.0121	15.0878	0.72167	0.0:0.0:0.0:1.0	.	287	O43286	B4GT5_HUMAN	S	287	ENSP00000360776:N287S	ENSP00000360776:N287S	N	-	2	0	B4GALT5	47689679	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	8.040000	0.89188	1.975000	0.57531	0.459000	0.35465	AAT		0.478	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		C	48256272	T	C	48256272	3	2	441	1	0	0	0	0	1	0	0	0	1274	1493	52	4	318	4	B4GALT5	20	48256272	Missense_Mutation	SNP	T	TCGA-61-1915-01A-01W-0639-09	22598839	48256272	14769248	85	24531											
TMEM189	387522	genome.wustl.edu	37	20	48760077	48760077	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr20:48760077G>A	ENST00000341698.2	-	2	202	c.203C>T	c.(202-204)gCc>gTc	p.A68V	TMEM189_ENST00000371650.5_Missense_Mutation_p.A68V|TMEM189_ENST00000371652.4_Missense_Mutation_p.A68V|TMEM189_ENST00000557021.1_Missense_Mutation_p.A68V	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CTCCCAGCGGGCCAGCAGCAG	0.647																																																0			20											81	60	67					20																	48760077		2202	4300	6502	48193484	SO:0001583	missense	387522			U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.203C>T	20.37:g.48760077G>A	ENSP00000344166:p.Ala68Val		48193484		Missense_Mutation	SNP	ENST00000341698.2	37	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542663	0.65198	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371652	T;T;T;T	0.51574	0.7;0.7;0.97;0.97	5.44	5.44	0.79542	.	.	.	.	.	T	0.58935	0.2157	L	0.43152	1.355	0.26718	N	0.970839	B;B;D	0.67145	0.004;0.004;0.996	B;B;D	0.70935	0.008;0.008;0.971	T	0.50849	-0.8779	9	0.21014	T	0.42	.	14.7489	0.69511	0.0:0.0:1.0:0.0	.	68;68;68	Q5TGE1;A5PLL7;G3V2F7	.;TM189_HUMAN;.	V	68	ENSP00000344166:A68V;ENSP00000450635:A68V;ENSP00000360713:A68V;ENSP00000360715:A68V	ENSP00000360713:A68V	A	-	2	0	TMEM189-UBE2V1;TMEM189	48193484	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.404000	0.52623	2.565000	0.86533	0.561000	0.74099	GCC		0.647	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			A	48760077	G	A	48760077	3	1	441	1	0	0	0	0	1	0	0	0	16111	1203	42	2	629	2	TMEM189	20	48760077	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	503805	48760077	14265443	86	24532											
LIPI	149998	genome.wustl.edu	37	21	15554105	15554105	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr21:15554105A>C	ENST00000536861.1	-	4	616	c.617T>G	c.(616-618)gTg>gGg	p.V206G	LIPI_ENST00000344577.2_Missense_Mutation_p.V227G			Q6XZB0	LIPI_HUMAN	lipase, member I	206					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GATGACATCCACAAACTTTGC	0.403																																																0			21											101	94	96					21																	15554105		2203	4300	6503	14475976	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.617T>G	21.37:g.15554105A>C	ENSP00000440381:p.Val206Gly		14475976	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.86|17.86	3.492839|3.492839	0.64074|0.64074	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000400211|ENST00000344577;ENST00000536861;ENST00000382981	.|D;D	.|0.96136	.|-3.92;-3.92	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98713|0.98713	0.9568|0.9568	H|H	0.98466|0.98466	4.24|4.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.99679|0.99679	1.0998|1.0998	5|10	.|0.87932	.|D	.|0	.|.	15.5223|15.5223	0.75875|0.75875	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|206;227	.|G1JSG6;Q6XZB0-2	.|.;.	W|G	85|227;206;101	.|ENSP00000343331:V227G;ENSP00000440381:V206G	.|ENSP00000343331:V227G	C|V	-|-	3|2	2|0	LIPI|LIPI	14475976|14475976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.550000|0.550000	0.35303|0.35303	8.246000|8.246000	0.89828|0.89828	2.207000|2.207000	0.71202|0.71202	0.533000|0.533000	0.62120|0.62120	TGT|GTG		0.403	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		C	15554105	A	C	15554105	3	2	441	1	0	0	0	0	1	0	0	0	8825	159	6	5	793	5	LIPI	21	15554105	Missense_Mutation	SNP	A	TCGA-61-1915-01A-01W-0639-09		15554105	32575790	87	24533											
DSCR4	10281	genome.wustl.edu	37	21	39427050	39427050	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr21:39427050C>T	ENST00000328264.3	-	3	360	c.256G>A	c.(256-258)Gca>Aca	p.A86T	DSCR4_ENST00000398948.1_Intron	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	86										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						AGACATTTTGCCCAAAATTGC	0.438																																																0			21											194	170	178					21																	39427050		2203	4300	6503	38348920	SO:0001583	missense	10281			AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000328264.3:c.256G>A	21.37:g.39427050C>T	ENSP00000328676:p.Ala86Thr		38348920	Q4VB31	Missense_Mutation	SNP	ENST00000328264.3	37	CCDS33554.1	.	.	.	.	.	.	.	.	.	.	C	6.393	0.440635	0.12104	.	.	ENSG00000184029	ENST00000328264	.	.	.	2.46	-0.573	0.11742	.	.	.	.	.	T	0.27798	0.0684	.	.	.	0.09310	N	1	B	0.20988	0.05	B	0.14023	0.01	T	0.25257	-1.0137	7	0.87932	D	0	.	4.9948	0.14233	0.0:0.4693:0.0:0.5307	.	86	P56555	DSCR4_HUMAN	T	86	.	ENSP00000328676:A86T	A	-	1	0	DSCR4	38348920	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.244000	0.08903	-0.173000	0.10761	0.563000	0.77884	GCA		0.438	DSCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000194834.1	NM_005867		T	39427050	C	T	39427050	3	4	441	1	0	0	0	0	1	0	0	0	4772	739	26	2	104	2	DSCR4	21	39427050	Missense_Mutation	SNP	C	TCGA-61-1915-01A-01W-0639-09	23872945	39427050	8702845	88	24534											
MEI1	150365	genome.wustl.edu	37	22	42172135	42172135	+	Silent	SNP	A	A	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chr22:42172135A>C	ENST00000401548.3	+	21	2614	c.2574A>C	c.(2572-2574)acA>acC	p.T858T	MEI1_ENST00000400107.1_Silent_p.T226T|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Silent_p.T176T	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGTGGACACAGCTCACAAGG	0.522																																																0			22											80	78	79					22																	42172135		1951	4161	6112	40502081	SO:0001819	synonymous_variant	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2574A>C	22.37:g.42172135A>C			40502081		Silent	SNP	ENST00000401548.3	37	CCDS46718.1																																																																																				0.522	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		C	42172135	A	C	42172135	2	2	441	1	0	0	0	0	0	0	0	1	9465	175	7	5		5	MEI1	22	42172135	Silent	SNP	A	TCGA-61-1915-01A-01W-0639-09		42172135	9132431	89	24535											
CYSLTR1	10800	genome.wustl.edu	37	X	77528320	77528320	+	Silent	SNP	T	T	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chrX:77528320T>C	ENST00000373304.3	-	3	1216	c.924A>G	c.(922-924)acA>acG	p.T308T		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	308					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GCTTTCTGAATGTAGACAGCC	0.413																																																0			X											63	60	61					X																	77528320		2202	4299	6501	77414976	SO:0001819	synonymous_variant	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.924A>G	X.37:g.77528320T>C			77414976	B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	ENST00000373304.3	37	CCDS14439.1																																																																																				0.413	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			C	77528320	T	C	77528320	2	2	441	1	0	0	0	0	0	0	0	1	4201	1451	51	4		4	CYSLTR1	23	77528320	Silent	SNP	T	TCGA-61-1915-01A-01W-0639-09		77528320	77742240	90	24536											
SATL1	340562	genome.wustl.edu	37	X	84362525	84362525	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chrX:84362525G>A	ENST00000395409.3	-	1	1449	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	SATL1_ENST00000509231.1_Missense_Mutation_p.P484S|SATL1_ENST00000332921.5_Missense_Mutation_p.P297S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	297	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTCGGCCCCGGTTCCCATATG	0.577																																																0			X											116	94	101					X																	84362525		2203	4300	6503	84249181	SO:0001583	missense	340562			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.889C>T	X.37:g.84362525G>A	ENSP00000378804:p.Pro297Ser		84249181	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	G	3.030	-0.199834	0.06219	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.39787	1.06;1.06;1.06	3.48	-4.7	0.03288	.	.	.	.	.	T	0.31670	0.0804	M	0.62723	1.935	0.09310	N	1	B;B	0.32573	0.001;0.376	B;B	0.26614	0.001;0.071	T	0.20638	-1.0269	9	0.62326	D	0.03	0.0697	5.7204	0.17985	0.5334:0.0:0.3343:0.1323	.	297;484	Q86VE3;E9PB72	SATL1_HUMAN;.	S	297;297;484	ENSP00000378804:P297S;ENSP00000329115:P297S;ENSP00000425421:P484S	ENSP00000329115:P297S	P	-	1	0	SATL1	84249181	0.014000	0.17966	0.000000	0.03702	0.001000	0.01503	0.923000	0.28757	-1.085000	0.03088	-0.190000	0.12839	CCG		0.577	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		A	84362525	G	A	84362525	3	1	441	1	0	0	0	0	1	0	0	0	13858	1261	44	2	468	2	SATL1	23	84362525	Missense_Mutation	SNP	G	TCGA-61-1915-01A-01W-0639-09	6834205	84362525	70908035	91	24537											
RAB40AL	282808	genome.wustl.edu	37	X	102192279	102192279	+	Silent	SNP	C	C	T	rs374307480		TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chrX:102192279C>T	ENST00000218249.5	+	1	80	c.33C>T	c.(31-33)taC>taT	p.Y11Y	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	11					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ACCAGGCCTACGACTTCCTGC	0.692																																																0			X						C		1,3834		0,1,1631,571	41	46	44		33	-1.5	0.3	X		44	0,6728		0,0,2428,1872	no	coding-synonymous	RAB40AL	NM_001031834.1		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		11/279	102192279	1,10562	2203	4300	6503	102078935	SO:0001819	synonymous_variant	0			BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.33C>T	X.37:g.102192279C>T			102078935	Q495H3	Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																				0.692	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		T	102192279	C	T	102192279	2	4	441	1	0	0	0	0	0	0	0	1	12943	547	19	1		1	RAB40AL	23	102192279	Silent	SNP	C	TCGA-61-1915-01A-01W-0639-09	17829754	102192279	53078281	92	24538											
ACTRT1	139741	genome.wustl.edu	37	X	127185330	127185330	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1915-01A-01W-0639-09	TCGA-61-1915-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8d0d915b-e84b-437a-88ad-c5b913bd54fe	940e219f-21f2-4ef6-bc8e-f0c382d0a6c2	g.chrX:127185330A>C	ENST00000371124.3	-	1	1052	c.856T>G	c.(856-858)Tgt>Ggt	p.C286G		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	286						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCAGTGTCACACTTCATGATG	0.527																																																0			X											105	100	102					X																	127185330		2203	4300	6503	127013011	SO:0001583	missense	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.856T>G	X.37:g.127185330A>C	ENSP00000360165:p.Cys286Gly		127013011	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.658089	0.29425	.	.	ENSG00000123165	ENST00000371124	D	0.95412	-3.7	3.58	3.58	0.41010	.	0.000000	0.64402	D	0.000003	D	0.98134	0.9384	H	0.96239	3.79	0.45979	D	0.998797	D	0.89917	1.0	D	0.97110	1.0	D	0.98166	1.0449	10	0.87932	D	0	.	9.6661	0.39986	1.0:0.0:0.0:0.0	.	286	Q8TDG2	ACTT1_HUMAN	G	286	ENSP00000360165:C286G	ENSP00000360165:C286G	C	-	1	0	ACTRT1	127013011	1.000000	0.71417	0.984000	0.44739	0.174000	0.22865	5.212000	0.65225	1.637000	0.50538	0.486000	0.48141	TGT		0.527	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		C	127185330	A	C	127185330	3	2	441	1	0	0	0	0	1	0	0	0	218	159	6	5	278	5	ACTRT1	23	127185330	Missense_Mutation	SNP	A	TCGA-61-1915-01A-01W-0639-09	24993051	127185330	28085230	93	24539											
SETDB1	9869	broad.mit.edu	37	1	150923443	150923443	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr1:150923443T>C	ENST00000271640.5	+	13	2280	c.2090T>C	c.(2089-2091)aTt>aCt	p.I697T	SETDB1_ENST00000368969.4_Missense_Mutation_p.I697T|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	697					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.I697T(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCAATGAGATTGACACAACC	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											96	97	96					1																	150923443		2203	4300	6503	149190067	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2090T>C	1.37:g.150923443T>C	ENSP00000271640:p.Ile697Thr		149190067	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174576	0.57692	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.89810	-2.57;-2.57;-2.57	5.66	5.66	0.87406	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.046577	0.85682	D	0.000000	D	0.90930	0.7149	M	0.84846	2.72	0.80722	D	1	P;B;B	0.38745	0.645;0.241;0.284	P;B;B	0.47118	0.538;0.094;0.152	D	0.92525	0.6028	10	0.87932	D	0	.	15.0838	0.72135	0.0:0.0:0.0:1.0	.	697;697;697	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	T	697	ENSP00000271640:I697T;ENSP00000357965:I697T;ENSP00000432348:I697T	ENSP00000271640:I697T	I	+	2	0	SETDB1	149190067	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	6.198000	0.72106	2.146000	0.66826	0.533000	0.62120	ATT		0.478	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			C	150923443	T	C	150923443	3	2	442	1	0	0	0	0	1	0	0	0	14141	1493	52	4	2136	4	SETDB1	1	150923443	Missense_Mutation	SNP	T	TCGA-61-1919-01A-01W-0699-08		150923443	98327178	1	24540											
OR2B11	127623	broad.mit.edu	37	1	247614505	247614505	+	Silent	SNP	A	A	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr1:247614505A>T	ENST00000318749.6	-	1	803	c.780T>A	c.(778-780)atT>atA	p.I260I		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I260I(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GATACATGTAAATCGCAGGTA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	1											154	155	155					1																	247614505		2203	4300	6503	245681128	SO:0001819	synonymous_variant	127623				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.780T>A	1.37:g.247614505A>T			245681128	B2RP03	Silent	SNP	ENST00000318749.6	37	CCDS31090.1																																																																																				0.522	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		T	247614505	A	T	247614505	2	4	442	1	0	0	0	0	0	0	0	1	10988	10	1	5		5	OR2B11	1	247614505	Silent	SNP	A	TCGA-61-1919-01A-01W-0699-08	96691062	247614505	1636116	2	24541											
EHD3	30845	broad.mit.edu	37	2	31483500	31483500	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr2:31483500C>A	ENST00000322054.5	+	4	912	c.627C>A	c.(625-627)aaC>aaA	p.N209K	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	209	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.N209K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCCTCAAGAACCACGAGGACA	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											90	81	84					2																	31483500		2203	4300	6503	31337004	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.627C>A	2.37:g.31483500C>A	ENSP00000327116:p.Asn209Lys		31337004	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899003	0.52227	.	.	ENSG00000013016	ENST00000322054	D	0.95238	-3.65	5.15	4.24	0.50183	Dynamin, GTPase domain (1);	0.118865	0.85682	N	0.000000	D	0.86781	0.6015	N	0.01817	-0.705	0.80722	D	1	B	0.23249	0.082	B	0.33121	0.158	D	0.83786	0.0228	10	0.54805	T	0.06	-47.7151	14.844	0.70246	0.1448:0.8552:0.0:0.0	.	209	Q9NZN3	EHD3_HUMAN	K	209	ENSP00000327116:N209K	ENSP00000327116:N209K	N	+	3	2	EHD3	31337004	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.651000	0.83577	1.336000	0.45506	0.561000	0.74099	AAC		0.547	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		A	31483500	C	A	31483500	3	1	442	1	0	0	0	0	1	0	0	0	4979	506	18	3	641	3	EHD3	2	31483500	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08		31483500	211715873	3	24542											
TTN	7273	broad.mit.edu	37	2	179516832	179516832	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr2:179516832G>C	ENST00000591111.1	-	159	34989	c.34765C>G	c.(34765-34767)Ccc>Gcc	p.P11589A	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P13096A|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10662A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11589	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P10662A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCAGGGGGAGGACTTTCC	0.343																																																1	Substitution - Missense(1)	ovary(1)	2											85	82	83					2																	179516832		1814	4074	5888	179225077	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34765C>G	2.37:g.179516832G>C	ENSP00000465570:p.Pro11589Ala		179225077	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.13	1.549235	0.27652	.	.	ENSG00000155657	ENST00000342992	T	0.65178	-0.14	5.0	5.0	0.66597	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.58694	0.2140	M	0.63843	1.955	0.80722	D	1	B	0.22003	0.063	B	0.22386	0.039	T	0.61192	-0.7112	9	0.87932	D	0	.	10.0267	0.42076	0.1266:0.0:0.8734:0.0	.	11589	Q8WZ42	TITIN_HUMAN	A	10662	ENSP00000343764:P10662A	ENSP00000343764:P10662A	P	-	1	0	TTN	179225077	0.232000	0.23762	1.000000	0.80357	0.721000	0.41392	1.299000	0.33424	2.490000	0.84030	0.650000	0.86243	CCC		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179516832	G	C	179516832	3	2	442	1	0	0	0	0	1	0	0	0	16735	1174	41	3	68621	3	TTN	2	179516832	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08	148033332	179516832	63682541	4	24543											
ARSJ	79642	broad.mit.edu	37	4	114824057	114824057	+	Silent	SNP	C	C	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr4:114824057C>T	ENST00000315366.7	-	2	2039	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	ARSJ_ENST00000541197.1_Silent_p.Q391Q	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	391					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.Q391Q(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCTCATCAATCTGTCCTTCAG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	4											163	159	160					4																	114824057		1984	4172	6156	115043506	SO:0001819	synonymous_variant	79642				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1173G>A	4.37:g.114824057C>T			115043506	A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Silent	SNP	ENST00000315366.7	37	CCDS43264.1																																																																																				0.458	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		T	114824057	C	T	114824057	2	4	442	1	0	0	0	0	0	0	0	1	995	912	32	2		2	ARSJ	4	114824057	Silent	SNP	C	TCGA-61-1919-01A-01W-0699-08		114824057	76330219	5	24544											
STOX2	56977	broad.mit.edu	37	4	184931081	184931081	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr4:184931081C>T	ENST00000308497.4	+	3	2525	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	STOX2_ENST00000438269.1_Missense_Mutation_p.R364W	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	364					embryo development (GO:0009790)|maternal placenta development (GO:0001893)			p.R364W(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TAGGACTCATCGGAAGTCCCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	4											32	31	31					4																	184931081		1897	4123	6020	185168075	SO:0001583	missense	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1090C>T	4.37:g.184931081C>T	ENSP00000311257:p.Arg364Trp		185168075	A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048329	0.55110	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.81415	-0.5;-1.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	L	0.32530	0.975	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76575	0.967;0.988	D	0.84935	0.0862	10	0.87932	D	0	-14.2328	13.6865	0.62520	0.2506:0.7494:0.0:0.0	.	364;364	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	W	364	ENSP00000311257:R364W;ENSP00000390127:R364W	ENSP00000311257:R364W	R	+	1	2	STOX2	185168075	0.958000	0.32768	0.782000	0.31804	0.798000	0.45092	1.847000	0.39299	2.941000	0.99782	0.655000	0.94253	CGG		0.522	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		T	184931081	C	T	184931081	3	4	442	1	0	0	0	0	1	0	0	0	15322	875	31	1	1100	1	STOX2	4	184931081	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08	70107024	184931081	6223195	6	24545											
PAPD7	11044	broad.mit.edu	37	5	6751185	6751185	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr5:6751185G>A	ENST00000230859.6	+	11	1273	c.1144G>A	c.(1144-1146)Gtt>Att	p.V382I		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	612					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.V382I(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AACGCCCAGTGTTTACCAGTT	0.537																																					NSCLC(7;212 333 5667 23379 46547)											1	Substitution - Missense(1)	ovary(1)	5											146	144	145					5																	6751185		2203	4300	6503	6804185	SO:0001583	missense	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1144G>A	5.37:g.6751185G>A	ENSP00000230859:p.Val382Ile		6804185	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611907	0.46631	.	.	ENSG00000112941	ENST00000230859	T	0.32023	1.47	5.8	5.8	0.92144	.	0.218924	0.39615	N	0.001313	T	0.28797	0.0714	L	0.47716	1.5	0.33773	D	0.623325	B;B	0.09022	0.002;0.002	B;B	0.10450	0.003;0.005	T	0.27971	-1.0058	10	0.45353	T	0.12	-11.3349	12.5404	0.56167	0.076:0.0:0.924:0.0	.	382;382	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	I	382	ENSP00000230859:V382I	ENSP00000230859:V382I	V	+	1	0	PAPD7	6804185	1.000000	0.71417	0.333000	0.25482	0.829000	0.46940	3.819000	0.55686	2.741000	0.93983	0.650000	0.86243	GTT		0.537	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		A	6751185	G	A	6751185	3	1	442	1	0	0	0	0	1	0	0	0	11426	1377	48	2	1182	2	PAPD7	5	6751185	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08		6751185	174164075	7	24546											
RASGRF2	5924	broad.mit.edu	37	5	80363981	80363981	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr5:80363981G>A	ENST00000265080.4	+	3	593	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	176					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E176K(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CACAGAAATCGAAAGGCTTAA	0.383																																																1	Substitution - Missense(1)	ovary(1)	5											123	117	119					5																	80363981		2203	4300	6503	80399737	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.526G>A	5.37:g.80363981G>A	ENSP00000265080:p.Glu176Lys		80399737	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271995	0.59649	.	.	ENSG00000113319	ENST00000265080	T	0.41065	1.01	5.91	5.91	0.95273	.	0.088972	0.85682	D	0.000000	T	0.31857	0.0810	N	0.20986	0.625	0.52099	D	0.999947	B	0.22800	0.075	B	0.11329	0.006	T	0.11470	-1.0586	10	0.13470	T	0.59	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	176	O14827	RGRF2_HUMAN	K	176	ENSP00000265080:E176K	ENSP00000265080:E176K	E	+	1	0	RASGRF2	80399737	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.058000	0.89460	2.794000	0.96219	0.655000	0.94253	GAA		0.383	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		A	80363981	G	A	80363981	3	1	442	1	0	0	0	0	1	0	0	0	13076	1059	37	1	536	1	RASGRF2	5	80363981	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08	73612796	80363981	100551279	8	24547											
APC	324	broad.mit.edu	37	5	112176937	112176937	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr5:112176937A>T	ENST00000457016.1	+	16	6026	c.5646A>T	c.(5644-5646)agA>agT	p.R1882S	APC_ENST00000257430.4_Missense_Mutation_p.R1882S|APC_ENST00000508376.2_Missense_Mutation_p.R1882S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1882	Highly charged.|Ser-rich.		R -> T (in dbSNP:rs34157245).		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1882S(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTGAATTAAGAAAGGCAAAAG	0.378		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	ovary(1)|soft_tissue(1)|skin(1)	5											82	80	80					5																	112176937		2202	4300	6502	112204836	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5646A>T	5.37:g.112176937A>T	ENSP00000413133:p.Arg1882Ser		112204836	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815716	0.32145	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90732	-2.72;-2.72;-2.72	5.34	1.81	0.25067	.	0.123358	0.56097	D	0.000033	T	0.81973	0.4936	L	0.32530	0.975	0.49582	D	0.999804	B;B	0.27853	0.191;0.061	B;B	0.23275	0.045;0.045	T	0.72500	-0.4274	9	.	.	.	-16.5365	9.1034	0.36683	0.7874:0.0:0.2126:0.0	.	1884;1882	Q4LE70;P25054	.;APC_HUMAN	S	1882	ENSP00000413133:R1882S;ENSP00000257430:R1882S;ENSP00000427089:R1882S	.	R	+	3	2	APC	112204836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.276000	0.43408	0.555000	0.29079	0.528000	0.53228	AGA		0.378	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		T	112176937	A	T	112176937	3	4	442	1	0	0	0	0	1	0	0	0	763	243	9	5	5704	5	APC	5	112176937	Missense_Mutation	SNP	A	TCGA-61-1919-01A-01W-0699-08	31812956	112176937	68738323	9	24548											
PCDHB11	56125	broad.mit.edu	37	5	140580729	140580729	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr5:140580729G>A	ENST00000354757.3	+	1	1382	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R96H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R461H(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTCCGCGAGAACAAC	0.587																																																1	Substitution - Missense(1)	ovary(1)	5											129	121	124					5																	140580729		2203	4296	6499	140560913	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1382G>A	5.37:g.140580729G>A	ENSP00000346802:p.Arg461His		140560913	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778183	0.31502	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01767	4.65;4.65	2.52	0.444	0.16592	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01870	0.0059	L	0.34521	1.04	0.09310	N	1	B	0.27416	0.178	B	0.29716	0.106	T	0.46871	-0.9160	9	0.37606	T	0.19	.	8.0089	0.30342	0.0:0.466:0.3745:0.1594	.	461	Q9Y5F2	PCDBB_HUMAN	H	96;461	ENSP00000440344:R96H;ENSP00000346802:R461H	ENSP00000346802:R461H	R	+	2	0	PCDHB11	140560913	0.000000	0.05858	0.062000	0.19696	0.538000	0.34931	-4.828000	0.00181	-0.044000	0.13491	0.306000	0.20318	CGC		0.587	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		A	140580729	G	A	140580729	3	1	442	1	0	0	0	0	1	0	0	0	11536	1087	38	1	1384	1	PCDHB11	5	140580729	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08	28403792	140580729	40334531	10	24549											
PKHD1	5314	broad.mit.edu	37	6	51941121	51941121	+	Missense_Mutation	SNP	G	G	A	rs374645464		TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr6:51941121G>A	ENST00000371117.3	-	6	676	c.401C>T	c.(400-402)gCg>gTg	p.A134V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A134V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	134					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A134V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTGTCTGCGCCTTGGAAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	6						G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	95	98	97		401,401	0.7	0.9	6		97	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PKHD1	NM_170724.2,NM_138694.3	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	134/3397,134/4075	51941121	2,13004	2203	4300	6503	52049080	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.401C>T	6.37:g.51941121G>A	ENSP00000360158:p.Ala134Val		52049080	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.132	1.011727	0.19277	0.0	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87256	-2.03;-2.23	5.74	0.699	0.18093	.	0.596054	0.16585	N	0.208034	T	0.59636	0.2208	L	0.34521	1.04	0.18873	N	0.999988	B;B	0.23650	0.055;0.089	B;B	0.15870	0.014;0.006	T	0.50056	-0.8872	10	0.23302	T	0.38	.	7.6693	0.28449	0.1295:0.0:0.3003:0.5702	.	134;134	P08F94-2;P08F94	.;PKHD1_HUMAN	V	134	ENSP00000360158:A134V;ENSP00000341097:A134V	ENSP00000341097:A134V	A	-	2	0	PKHD1	52049080	0.006000	0.16342	0.885000	0.34714	0.616000	0.37450	0.023000	0.13533	-0.088000	0.12506	-0.822000	0.03109	GCG		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51941121	G	A	51941121	3	1	442	1	0	0	0	0	1	0	0	0	11971	1087	38	1	12110	1	PKHD1	6	51941121	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08		51941121	119173946	11	24550											
LTV1	84946	broad.mit.edu	37	6	144167244	144167244	+	Silent	SNP	C	C	T	rs199523396	byFrequency	TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr6:144167244C>T	ENST00000367576.5	+	3	326	c.192C>T	c.(190-192)gaC>gaT	p.D64D		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	64						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D64D(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TCTTTGATGACGACTATGACT	0.428													C|||	5	0.000998403	0	0	5008	,	,		20958	0.004		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	6											132	115	121					6																	144167244		2203	4300	6503	144208937	SO:0001819	synonymous_variant	84946			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 93", "LTV1 homolog (S. cerevisiae)"	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.192C>T	6.37:g.144167244C>T			144208937	Q96JX8	Silent	SNP	ENST00000367576.5	37	CCDS5201.1																																																																																				0.428	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		T	144167244	C	T	144167244	2	4	442	1	0	0	0	0	0	0	0	1	9081	535	19	1		1	LTV1	6	144167244	Silent	SNP	C	TCGA-61-1919-01A-01W-0699-08	92226123	144167244	26947823	12	24551											
LAMB1	3912	broad.mit.edu	37	7	107616272	107616272	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr7:107616272A>G	ENST00000222399.6	-	10	1281	c.1051T>C	c.(1051-1053)Tac>Cac	p.Y351H	LAMB1_ENST00000393560.1_Missense_Mutation_p.Y351H|LAMB1_ENST00000393561.1_Missense_Mutation_p.Y375H	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	351	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.Y351H(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GTGGCCAGGTAAACAGCCATG	0.488																																																1	Substitution - Missense(1)	ovary(1)	7											98	82	87					7																	107616272		2203	4300	6503	107403508	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1051T>C	7.37:g.107616272A>G	ENSP00000222399:p.Tyr351His		107403508	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770928	0.90108	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.41065	1.25;1.25;1.01	5.31	5.31	0.75309	EGF-like, laminin (3);	.	.	.	.	T	0.68063	0.2960	M	0.87456	2.885	0.48762	D	0.999704	P;D;D	0.71674	0.852;0.998;0.98	P;D;P	0.67725	0.451;0.953;0.872	T	0.75042	-0.3457	9	0.87932	D	0	.	15.4343	0.75133	1.0:0.0:0.0:0.0	.	351;351;375	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	H	375;351;351	ENSP00000377191:Y375H;ENSP00000222399:Y351H;ENSP00000377190:Y351H	ENSP00000222399:Y351H	Y	-	1	0	LAMB1	107403508	0.970000	0.33590	0.864000	0.33941	0.994000	0.84299	9.033000	0.93741	2.231000	0.72958	0.533000	0.62120	TAC		0.488	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		G	107616272	A	G	107616272	3	3	442	1	0	0	0	0	1	0	0	0	8610	362	13	4	4409	4	LAMB1	7	107616272	Missense_Mutation	SNP	A	TCGA-61-1919-01A-01W-0699-08		107616272	51522391	13	24552											
CFTR	1080	broad.mit.edu	37	7	117182111	117182111	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr7:117182111C>G	ENST00000003084.6	+	9	1290	c.1158C>G	c.(1156-1158)aaC>aaG	p.N386K	CFTR_ENST00000454343.1_Missense_Mutation_p.N386K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	386					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.N386K(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TGGAATATAACTTAACGACTA	0.299									Cystic Fibrosis																																							1	Substitution - Missense(1)	ovary(1)	7											45	46	46					7																	117182111		2203	4298	6501	116969347	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1158C>G	7.37:g.117182111C>G	ENSP00000003084:p.Asn386Lys		116969347	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467220	0.63625	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.92545	-3.01;-2.78;-3.06	5.62	3.82	0.43975	ABC transporter, transmembrane domain, type 1 (1);	0.080873	0.85682	D	0.000000	D	0.91099	0.7198	L	0.52011	1.625	0.38810	D	0.9554	P	0.48230	0.907	P	0.53266	0.722	D	0.88474	0.3064	10	0.33940	T	0.23	-23.3924	7.262	0.26209	0.0:0.6333:0.0:0.3667	.	386	P13569	CFTR_HUMAN	K	386;386;356	ENSP00000003084:N386K;ENSP00000403677:N386K;ENSP00000389119:N356K	ENSP00000003084:N386K	N	+	3	2	CFTR	116969347	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.859000	0.27858	0.843000	0.35070	-0.143000	0.13931	AAC		0.299	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		G	117182111	C	G	117182111	3	3	442	1	0	0	0	0	1	0	0	0	3294	564	20	3	1192	3	CFTR	7	117182111	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08	9565839	117182111	41956552	14	24553											
NUP205	23165	broad.mit.edu	37	7	135287718	135287718	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr7:135287718C>T	ENST00000285968.6	+	18	2704	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	893					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.A893V(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACTAAGAAGGCAGATAATGTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	7											61	58	59					7																	135287718		2203	4300	6503	134938258	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2678C>T	7.37:g.135287718C>T	ENSP00000285968:p.Ala893Val		134938258	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049338	0.93740	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.46992	-0.9151	10	0.30854	T	0.27	-9.5812	18.4551	0.90717	0.0:1.0:0.0:0.0	.	893	Q92621	NU205_HUMAN	V	893	ENSP00000285968:A893V	ENSP00000285968:A893V	A	+	2	0	NUP205	134938258	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.740000	0.84986	2.333000	0.79357	0.591000	0.81541	GCA		0.368	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			T	135287718	C	T	135287718	3	4	442	1	0	0	0	0	1	0	0	0	10759	710	25	2	2748	2	NUP205	7	135287718	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08	18105607	135287718	23850945	15	24554											
TMEM139	135932	broad.mit.edu	37	7	142983749	142983749	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr7:142983749C>G	ENST00000359333.3	+	3	991	c.478C>G	c.(478-480)Cca>Gca	p.P160A	TMEM139_ENST00000409541.1_Missense_Mutation_p.P160A|TMEM139_ENST00000409102.1_Missense_Mutation_p.P160A|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000446192.1_RNA|CASP2_ENST00000310447.5_5'Flank|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000410004.1_Missense_Mutation_p.P160A|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409244.1_Missense_Mutation_p.P160A	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	160						integral component of membrane (GO:0016021)		p.P160A(1)		endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TGGAAGAGCTCCAATCAACCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	7											85	81	82					7																	142983749		2203	4300	6503	142693871	SO:0001583	missense	135932			AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.478C>G	7.37:g.142983749C>G	ENSP00000352284:p.Pro160Ala		142693871	B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	37	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400024	0.42613	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.0	5.0	0.66597	.	0.718657	0.12630	N	0.452269	T	0.37758	0.1015	L	0.47716	1.5	0.09310	N	1	P	0.40731	0.728	B	0.36666	0.23	T	0.27839	-1.0062	9	0.39692	T	0.17	0.0593	14.2052	0.65730	0.0:1.0:0.0:0.0	.	160	Q8IV31	TM139_HUMAN	A	160	.	ENSP00000352284:P160A	P	+	1	0	TMEM139	142693871	0.005000	0.15991	0.020000	0.16555	0.237000	0.25408	1.962000	0.40442	2.510000	0.84645	0.558000	0.71614	CCA		0.612	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		G	142983749	C	G	142983749	3	3	442	1	0	0	0	0	1	0	0	0	16054	855	30	3	484	3	TMEM139	7	142983749	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08	7696031	142983749	16154914	16	24555											
EPHA1	2041	broad.mit.edu	37	7	143098564	143098564	+	Silent	SNP	G	G	A			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr7:143098564G>A	ENST00000275815.3	-	3	371	c.285C>T	c.(283-285)gtC>gtT	p.V95V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	95	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.V95V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTCCACGTGGACGCGGGAAG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	7											126	123	124					7																	143098564		2203	4300	6503	142808686	SO:0001819	synonymous_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.285C>T	7.37:g.143098564G>A			142808686	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																				0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			A	143098564	G	A	143098564	2	1	442	1	0	0	0	0	0	0	0	1	5165	1161	41	2		2	EPHA1	7	143098564	Silent	SNP	G	TCGA-61-1919-01A-01W-0699-08	114815	143098564	16040099	17	24556											
KCNK18	338567	broad.mit.edu	37	10	118960736	118960736	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr10:118960736G>T	ENST00000334549.1	+	2	290	c.290G>T	c.(289-291)aGg>aTg	p.R97M		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	97					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.R97M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TGGTTTAACAGGACCACACAC	0.537																																																1	Substitution - Missense(1)	ovary(1)	10											175	149	158					10																	118960736		2203	4300	6503	118950726	SO:0001583	missense	338567			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.290G>T	10.37:g.118960736G>T	ENSP00000334650:p.Arg97Met		118950726	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206763	0.39003	.	.	ENSG00000186795	ENST00000334549	T	0.24350	1.86	4.34	-2.12	0.07165	.	1.076820	0.07068	N	0.835009	T	0.27169	0.0666	L	0.41356	1.27	0.09310	N	1	D	0.53151	0.958	P	0.51453	0.67	T	0.30504	-0.9976	10	0.45353	T	0.12	.	6.4476	0.21885	0.3093:0.4794:0.2113:0.0	.	97	Q7Z418	KCNKI_HUMAN	M	97	ENSP00000334650:R97M	ENSP00000334650:R97M	R	+	2	0	KCNK18	118950726	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.008000	0.12788	-0.380000	0.07894	-0.175000	0.13238	AGG		0.537	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		T	118960736	G	T	118960736	3	4	442	1	0	0	0	0	1	0	0	0	8065	1000	35	3	296	3	KCNK18	10	118960736	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08		118960736	16574011	18	24557											
AP2A2	161	broad.mit.edu	37	11	994220	994220	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr11:994220C>G	ENST00000448903.2	+	14	2072	c.1931C>G	c.(1930-1932)cCt>cGt	p.P644R	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.P645R	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	644					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.P645R(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGTCCTGAGCCTGCCCCAGCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	11											54	70	64					11																	994220		2099	4200	6299	984220	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1931C>G	11.37:g.994220C>G	ENSP00000413234:p.Pro644Arg		984220	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.563863	0.03939	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.17854	2.25;2.25	3.16	3.16	0.36331	.	0.132901	0.51477	D	0.000092	T	0.13372	0.0324	L	0.45051	1.395	0.43084	D	0.994743	B;B	0.14805	0.011;0.006	B;B	0.13407	0.009;0.004	T	0.07009	-1.0795	10	0.15952	T	0.53	-71.0709	10.9308	0.47217	0.1878:0.8122:0.0:0.0	.	645;644	O94973-2;O94973	.;AP2A2_HUMAN	R	644;645;645;381;384	ENSP00000413234:P644R;ENSP00000327694:P645R	ENSP00000327694:P645R	P	+	2	0	AP2A2	984220	0.933000	0.31639	0.668000	0.29813	0.005000	0.04900	2.456000	0.44997	2.080000	0.62538	0.561000	0.74099	CCT		0.622	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		G	994220	C	G	994220	3	3	442	1	0	0	0	0	1	0	0	0	740	681	24	3	1985	3	AP2A2	11	994220	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08		994220	134012296	19	24558											
PAX6	5080	broad.mit.edu	37	11	31815586	31815586	+	Silent	SNP	T	T	C			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr11:31815586T>C	ENST00000379132.3	-	8	1039	c.759A>G	c.(757-759)agA>agG	p.R253R	PAX6_ENST00000379123.5_Silent_p.R253R|PAX6_ENST00000379115.4_Silent_p.R267R|PAX6_ENST00000419022.1_Silent_p.R267R|PAX6_ENST00000379111.2_Silent_p.R253R|PAX6_ENST00000379107.2_Silent_p.R267R|PAX6_ENST00000241001.8_Silent_p.R253R|PAX6_ENST00000379129.2_Silent_p.R267R			P26367	PAX6_HUMAN	paired box 6	253					astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.R267R(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTACCTGTATTCTTGCTTCAG	0.393									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																							1	Substitution - coding silent(1)	ovary(1)	11											218	215	216					11																	31815586		2202	4299	6501	31772162	SO:0001819	synonymous_variant	5080	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.759A>G	11.37:g.31815586T>C			31772162	Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	CCDS31451.1																																																																																				0.393	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		C	31815586	T	C	31815586	2	2	442	1	0	0	0	0	0	0	0	1	11483	1780	62	4		4	PAX6	11	31815586	Silent	SNP	T	TCGA-61-1919-01A-01W-0699-08	30821366	31815586	103190930	20	24559											
TRAF6	7189	broad.mit.edu	37	11	36511516	36511516	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr11:36511516C>T	ENST00000526995.1	-	7	1687	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.A481T	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	481	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A481T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TGTCTTAGGGCTTCCAGATGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											101	101	101					11																	36511516		2202	4296	6498	36468092	SO:0001583	missense	7189				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1441G>A	11.37:g.36511516C>T	ENSP00000433623:p.Ala481Thr		36468092	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685400	0.29872	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.40225	1.04;1.04	5.46	5.46	0.80206	TRAF-type (1);TRAF-like (1);MATH (3);	0.343217	0.34652	N	0.003791	T	0.18759	0.0450	N	0.03608	-0.345	0.45272	D	0.998272	B	0.14805	0.011	B	0.17722	0.019	T	0.17107	-1.0380	10	0.10377	T	0.69	-16.6557	10.8288	0.46649	0.0:0.8843:0.0:0.1157	.	481	Q9Y4K3	TRAF6_HUMAN	T	481	ENSP00000433623:A481T;ENSP00000337853:A481T	ENSP00000337853:A481T	A	-	1	0	TRAF6	36468092	0.982000	0.34865	0.990000	0.47175	0.979000	0.70002	2.278000	0.43426	2.739000	0.93911	0.555000	0.69702	GCC		0.473	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		T	36511516	C	T	36511516	3	4	442	1	0	0	0	0	1	0	0	0	16445	797	28	2	131	2	TRAF6	11	36511516	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08	4695930	36511516	98495000	21	24560											
AHNAK	79026	broad.mit.edu	37	11	62289131	62289131	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr11:62289131T>C	ENST00000378024.4	-	5	13032	c.12758A>G	c.(12757-12759)aAa>aGa	p.K4253R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4253					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K4253R(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGGGCTTTGATGTTCAT	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											213	222	219					11																	62289131		2202	4299	6501	62045707	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12758A>G	11.37:g.62289131T>C	ENSP00000367263:p.Lys4253Arg		62045707	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	9.014	0.983270	0.18889	.	.	ENSG00000124942	ENST00000378024	T	0.00882	5.58	4.88	4.88	0.63580	.	0.000000	0.43110	D	0.000603	T	0.02455	0.0075	M	0.85945	2.785	0.25829	N	0.984199	B	0.21753	0.06	B	0.27715	0.082	T	0.12243	-1.0555	10	0.41790	T	0.15	.	12.8094	0.57631	0.0:0.0:0.0:1.0	.	4253	Q09666	AHNK_HUMAN	R	4253	ENSP00000367263:K4253R	ENSP00000367263:K4253R	K	-	2	0	AHNAK	62045707	.	.	0.958000	0.39756	0.005000	0.04900	.	.	1.847000	0.53656	0.444000	0.29173	AAA		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62289131	T	C	62289131	3	2	442	1	0	0	0	0	1	0	0	0	414	1841	64	4	5034	4	AHNAK	11	62289131	Missense_Mutation	SNP	T	TCGA-61-1919-01A-01W-0699-08	25777615	62289131	72717385	22	24561											
NRXN2	9379	broad.mit.edu	37	11	64453370	64453370	+	Silent	SNP	G	G	A	rs540195301	byFrequency	TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr11:64453370G>A	ENST00000377551.1	-	5	1111	c.900C>T	c.(898-900)taC>taT	p.Y300Y	NRXN2_ENST00000377559.3_Silent_p.Y276Y|NRXN2_ENST00000265459.6_Silent_p.Y300Y|NRXN2_ENST00000409571.1_Silent_p.Y300Y			Q9P2S2	NRX2A_HUMAN	neurexin 2	300	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.Y300Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTGACAGGTCGTAGCAGAAGA	0.577													G|||	2	0.000399361	0	0	5008	,	,		21060	0.002		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	11											358	282	308					11																	64453370		2201	4297	6498	64209946	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.900C>T	11.37:g.64453370G>A			64209946	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.615|8.615	0.890058|0.890058	0.17540|0.17540	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000437746|ENST00000417749	.|.	.|.	.|.	4.17|4.17	-1.32|-1.32	0.09201|0.09201	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54791	.|0.1880	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49890	.|-0.8891	.|4	.|.	.|.	.|.	.|.	9.3456|9.3456	0.38107|0.38107	0.4506:0.0:0.5494:0.0|0.4506:0.0:0.5494:0.0	.|.	.|.	.|.	.|.	X|M	90|61	.|.	.|.	R|T	-|-	1|2	2|0	NRXN2|NRXN2	64209946|64209946	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	0.533000|0.533000	0.23082|0.23082	-0.194000|-0.194000	0.10399|0.10399	0.467000|0.467000	0.42956|0.42956	CGA|ACG		0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		A	64453370	G	A	64453370	2	1	442	1	0	0	0	0	0	0	0	1	10666	1140	40	1		1	NRXN2	11	64453370	Silent	SNP	G	TCGA-61-1919-01A-01W-0699-08	2164239	64453370	70553146	23	24562											
WSCD2	9671	broad.mit.edu	37	12	108642000	108642000	+	Silent	SNP	C	C	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr12:108642000C>T	ENST00000332082.4	+	10	2396	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	WSCD2_ENST00000549903.1_Silent_p.L546L|WSCD2_ENST00000547525.1_Silent_p.L526L|WSCD2_ENST00000261400.3_Silent_p.L546L			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	526						integral component of membrane (GO:0016021)		p.L526L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCCGGAAGCTCGAGTATGACC	0.602																																																1	Substitution - coding silent(1)	ovary(1)	12											59	66	64					12																	108642000		2026	4197	6223	107166130	SO:0001819	synonymous_variant	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1578C>T	12.37:g.108642000C>T			107166130	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	CCDS41828.1																																																																																				0.602	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		T	108642000	C	T	108642000	2	4	442	1	0	0	0	0	0	0	0	1	17407	871	31	1		1	WSCD2	12	108642000	Silent	SNP	C	TCGA-61-1919-01A-01W-0699-08		108642000	25209895	24	24563											
KNTC1	9735	broad.mit.edu	37	12	123089592	123089595	+	Frame_Shift_Del	DEL	ATCA	ATCA	-			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	ATCA	ATCA					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr12:123089592_123089595delATCA	ENST00000333479.7	+	50	5521_5524	c.5344_5347delATCA	c.(5344-5349)atcaatfs	p.IN1782fs	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Frame_Shift_Del_p.IN207fs	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1782					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.N1783H(1)|p.N1783fs*21(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACATCCTAGCATCAATCAAAGAAT	0.377																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)	12																																								121655548	SO:0001589	frameshift_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5344_5347delATCA	12.37:g.123089596_123089599delATCA	ENSP00000328236:p.Ile1782fs		121655545	A7E2C4|B3KSG2	Frame_Shift_Del	DEL	ENST00000333479.7	37	CCDS45002.1																																																																																				0.377	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			-	123089595	ATCA	-	123089592	7	5	442	1	0	1	0	1	0	0	0	0	8428	217	8	0	5538	0	KNTC1	12	123089592	Frame_Shift_Del	DEL	ATCA	TCGA-61-1919-01A-01W-0699-08	14447592	123089592	10762303	25	24564											
TUBA3C	7278	broad.mit.edu	37	13	19751364	19751364	+	Silent	SNP	C	C	T	rs527372781	byFrequency	TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr13:19751364C>T	ENST00000400113.3	-	4	863	c.759G>A	c.(757-759)acG>acA	p.T253T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	253					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T253T(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCTGGAATTCCGTCAAGTCCA	0.612													C|||	4	0.000798722	0	0	5008	,	,		18879	0		0	False		,,,				2504	0.0041															2	Substitution - coding silent(2)	ovary(2)	13											148	131	137					13																	19751364		2203	4300	6503	18649364	SO:0001819	synonymous_variant	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.759G>A	13.37:g.19751364C>T			18649364	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		T	19751364	C	T	19751364	2	4	442	1	0	0	0	0	0	0	0	1	16746	639	23	1		1	TUBA3C	13	19751364	Silent	SNP	C	TCGA-61-1919-01A-01W-0699-08		19751364	95418514	26	24565											
OR11G2	390439	broad.mit.edu	37	14	20666089	20666089	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr14:20666089G>A	ENST00000357366.3	+	1	595	c.595G>A	c.(595-597)Gtc>Atc	p.V199I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V199I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GATTCCTATCGTCAACATCTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	14											117	100	106					14																	20666089		2203	4300	6503	19735929	SO:0001583	missense	390439				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.595G>A	14.37:g.20666089G>A	ENSP00000349930:p.Val199Ile		19735929	Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.889112	0.00060	.	.	ENSG00000196832	ENST00000357366	T	0.37058	1.22	4.93	1.09	0.20402	GPCR, rhodopsin-like superfamily (1);	0.648115	0.13478	N	0.384946	T	0.15176	0.0366	N	0.13168	0.305	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.30909	-0.9962	10	0.07030	T	0.85	.	3.9912	0.09538	0.6032:0.0:0.2511:0.1457	.	199	Q8NGC1	O11G2_HUMAN	I	199	ENSP00000349930:V199I	ENSP00000349930:V199I	V	+	1	0	OR11G2	19735929	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.008000	0.03663	0.064000	0.16427	-0.300000	0.09419	GTC		0.458	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			A	20666089	G	A	20666089	3	1	442	1	0	0	0	0	1	0	0	0	10925	1145	40	1	597	1	OR11G2	14	20666089	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08		20666089	86683451	27	24566											
TEP1	7011	broad.mit.edu	37	14	20869265	20869265	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr14:20869265C>T	ENST00000262715.5	-	9	1467	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	TEP1_ENST00000556935.1_Missense_Mutation_p.R368H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	476	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.R476H(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCAGGAAGGCGACTTCGAGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	14											79	76	77					14																	20869265		2203	4300	6503	19939105	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1427G>A	14.37:g.20869265C>T	ENSP00000262715:p.Arg476His		19939105	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467332	0.43839	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.16196	2.36;2.36	5.71	1.83	0.25207	TROVE (2);	0.222920	0.46758	N	0.000277	T	0.14013	0.0339	L	0.46157	1.445	0.80722	D	1	B;B	0.25719	0.045;0.132	B;B	0.22386	0.019;0.039	T	0.07635	-1.0762	10	0.34782	T	0.22	-5.6602	9.4383	0.38653	0.0:0.6969:0.0:0.3031	.	368;476	G3V5X7;Q99973	.;TEP1_HUMAN	H	476;476;368	ENSP00000262715:R476H;ENSP00000452574:R368H	ENSP00000262715:R476H	R	-	2	0	TEP1	19939105	0.472000	0.25870	1.000000	0.80357	0.636000	0.38137	-0.438000	0.06905	0.343000	0.23821	0.555000	0.69702	CGC		0.512	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20869265	C	T	20869265	3	4	442	1	0	0	0	0	1	0	0	0	15759	768	27	1	6644	1	TEP1	14	20869265	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08	203176	20869265	86480275	28	24567											
ERO1L	30001	broad.mit.edu	37	14	53119983	53119983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr14:53119983G>A	ENST00000395686.3	-	12	1082	c.859C>T	c.(859-861)Cga>Tga	p.R287*		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	287					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)	p.R287*(1)	ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					CCATCAAATCGCTGTTGAAAT	0.328																																																1	Substitution - Nonsense(1)	ovary(1)	14											104	116	112					14																	53119983		2203	4300	6503	52189733	SO:0001587	stop_gained	30001			AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"ERO1 (S. cerevisiae)-like"			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.859C>T	14.37:g.53119983G>A	ENSP00000379042:p.Arg287*		52189733	A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Nonsense_Mutation	SNP	ENST00000395686.3	37	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	G	37	6.315174	0.97467	.	.	ENSG00000197930	ENST00000395686	.	.	.	5.67	2.32	0.28847	.	0.096101	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5491	14.7988	0.69898	0.0:0.0:0.5069:0.4931	.	.	.	.	X	287	.	ENSP00000379042:R287X	R	-	1	2	ERO1L	52189733	0.999000	0.42202	1.000000	0.80357	0.860000	0.49131	1.404000	0.34623	1.224000	0.43551	0.585000	0.79938	CGA		0.328	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		A	53119983	G	A	53119983	4	1	442	1	0	0	0	0	0	1	0	0	5239	1095	38	1	567	1	ERO1L	14	53119983	Nonsense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08	32250718	53119983	54229557	29	24568											
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578265	A	G	7578265	3	3	442	1	0	0	0	0	1	0	0	0	16381	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-61-1919-01A-01W-0699-08		7578265	73616945	30	24569											
AP2B1	163	broad.mit.edu	37	17	33968965	33968965	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr17:33968965G>A	ENST00000262325.7	+	12	2060	c.1507G>A	c.(1507-1509)Gtc>Atc	p.V503I	AP2B1_ENST00000589344.1_Missense_Mutation_p.V503I|AP2B1_ENST00000312678.8_Missense_Mutation_p.V503I|AP2B1_ENST00000537622.2_Missense_Mutation_p.V503I|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.V446I|AP2B1_ENST00000592545.1_Missense_Mutation_p.V465I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	503					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)	p.V503I(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACAGGAGCTAGTCCAGCAGGT	0.393																																																1	Substitution - Missense(1)	ovary(1)	17											89	82	84					17																	33968965		2203	4300	6503	30993078	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1507G>A	17.37:g.33968965G>A	ENSP00000262325:p.Val503Ile		30993078	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663270	0.67700	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.52	5.52	0.82312	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	N	0.26130	0.795	0.80722	D	1	D;B;B;B	0.59357	0.985;0.048;0.022;0.051	D;B;B;B	0.68483	0.958;0.129;0.036;0.026	T	0.00998	-1.1486	10	0.33141	T	0.24	-5.9443	18.7923	0.91978	0.0:0.0:1.0:0.0	.	240;465;503;503	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	I	503;503;446;503;240	ENSP00000262325:V503I;ENSP00000314414:V503I;ENSP00000440563:V446I;ENSP00000437413:V503I	ENSP00000262325:V503I	V	+	1	0	AP2B1	30993078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.545000	0.98095	2.754000	0.94517	0.650000	0.86243	GTC		0.393	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			A	33968965	G	A	33968965	3	1	442	1	0	0	0	0	1	0	0	0	741	1029	36	2	1549	2	AP2B1	17	33968965	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08	26390700	33968965	47226245	31	24570											
ZNF407	55628	broad.mit.edu	37	18	72346771	72346771	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr18:72346771G>A	ENST00000299687.5	+	1	3796	c.3796G>A	c.(3796-3798)Gtt>Att	p.V1266I	ZNF407_ENST00000309902.6_Missense_Mutation_p.V1266I|ZNF407_ENST00000582337.1_Missense_Mutation_p.V1266I|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1266I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V1266I(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CCCTGTGCTCGTTGTGACAAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	18											34	38	37					18																	72346771		1940	4140	6080	70475759	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3796G>A	18.37:g.72346771G>A	ENSP00000299687:p.Val1266Ile		70475759	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479050	0.26511	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10192	2.9;3.34	4.69	-4.73	0.03259	.	1.384680	0.04533	N	0.386651	T	0.04861	0.0131	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.002;0.002;0.01	B;B;B	0.06405	0.001;0.002;0.002	T	0.40608	-0.9554	10	0.27785	T	0.31	.	1.4333	0.02338	0.4396:0.2524:0.1818:0.1262	.	1266;1266;1266	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	I	1266	ENSP00000299687:V1266I;ENSP00000310359:V1266I	ENSP00000299687:V1266I	V	+	1	0	ZNF407	70475759	.	.	0.000000	0.03702	0.002000	0.02628	.	.	0.003000	0.14656	-0.408000	0.06270	GTT		0.562	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72346771	G	A	72346771	3	1	442	1	0	0	0	0	1	0	0	0	17887	1145	40	1	3798	1	ZNF407	18	72346771	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08		72346771	5730477	32	24571											
SLC25A23	79085	broad.mit.edu	37	19	6456446	6456446	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr19:6456446G>C	ENST00000301454.4	-	4	574	c.468C>G	c.(466-468)ttC>ttG	p.F156L	SLC25A23_ENST00000334510.5_Missense_Mutation_p.F156L|SLC25A23_ENST00000414491.2_5'Flank	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	156					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.F156L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						AATGCTTCCAGAAATACAGCA	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											147	109	122					19																	6456446		2203	4300	6503	6407446	SO:0001583	missense	79085			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.468C>G	19.37:g.6456446G>C	ENSP00000301454:p.Phe156Leu		6407446	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036557	0.93630	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	T;T;T	0.36157	1.27;1.27;1.27	4.86	4.86	0.63082	EF-hand-like domain (1);	0.118609	0.64402	D	0.000013	T	0.40222	0.1108	M	0.68317	2.08	0.46609	D	0.999124	P	0.37423	0.594	B	0.35607	0.206	T	0.47598	-0.9105	10	0.66056	D	0.02	-31.282	16.7336	0.85442	0.0:0.0:1.0:0.0	.	156	Q9BV35	SCMC3_HUMAN	L	156	ENSP00000264088:F156L;ENSP00000301454:F156L;ENSP00000334537:F156L	ENSP00000264088:F156L	F	-	3	2	SLC25A23	6407446	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.295000	0.65692	2.251000	0.74343	0.491000	0.48974	TTC		0.592	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		C	6456446	G	C	6456446	3	2	442	1	0	0	0	0	1	0	0	0	14489	933	33	3	966	3	SLC25A23	19	6456446	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08		6456446	52672537	33	24572											
ZC3H4	23211	broad.mit.edu	37	19	47593269	47593269	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr19:47593269G>C	ENST00000253048.5	-	5	707	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	224							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L224V(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TACTGGTTCAGCTCTTTGGTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											118	120	119					19																	47593269		2147	4236	6383	52285109	SO:0001583	missense	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.670C>G	19.37:g.47593269G>C	ENSP00000253048:p.Leu224Val		52285109	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284992	0.40394	.	.	ENSG00000130749	ENST00000253048	T	0.24538	1.85	5.74	4.7	0.59300	.	0.000000	0.64402	D	0.000011	T	0.48205	0.1487	M	0.67397	2.05	0.58432	D	0.999998	D	0.69078	0.997	D	0.78314	0.991	T	0.45571	-0.9252	10	0.66056	D	0.02	.	14.027	0.64592	0.0751:0.0:0.9249:0.0	.	224	Q9UPT8	ZC3H4_HUMAN	V	224	ENSP00000253048:L224V	ENSP00000253048:L224V	L	-	1	2	ZC3H4	52285109	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	6.283000	0.72646	2.710000	0.92621	0.655000	0.94253	CTG		0.607	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			C	47593269	G	C	47593269	3	2	442	1	0	0	0	0	1	0	0	0	17570	962	34	3	3285	3	ZC3H4	19	47593269	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08	41136823	47593269	11535714	34	24573											
RFPL2	10739	broad.mit.edu	37	22	32586896	32586896	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr22:32586896C>T	ENST00000400237.1	-	5	1935	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	RFPL2_ENST00000248983.4_Missense_Mutation_p.V244I|RFPL2_ENST00000248980.4_Missense_Mutation_p.V273I|RFPL2_ENST00000400236.3_Missense_Mutation_p.V244I|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.V244I(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCAGCAGATACGCTCCTGAAT	0.478																																																1	Substitution - Missense(1)	ovary(1)	22											65	79	74					22																	32586896		2203	4300	6503	30916896	SO:0001583	missense	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.1000G>A	22.37:g.32586896C>T	ENSP00000383096:p.Val334Ile		30916896		Missense_Mutation	SNP	ENST00000400237.1	37	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.841971	0.00573	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	0.582	-1.16	0.09678	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.30572	0.0769	N	0.01535	-0.81	0.09310	N	1	B;B	0.32653	0.379;0.069	B;B	0.31495	0.131;0.08	T	0.28618	-1.0038	9	0.02654	T	1	.	2.61	0.04888	0.0:0.2552:0.2726:0.4723	.	334;273	O75678;O75678-3	RFPL2_HUMAN;.	I	273;244;244;334	ENSP00000248980:V273I;ENSP00000248983:V244I;ENSP00000383095:V244I;ENSP00000383096:V334I	ENSP00000248980:V273I	V	-	1	0	RFPL2	30916896	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.701000	0.05075	-1.214000	0.02614	-0.714000	0.03626	GTA		0.478	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		T	32586896	C	T	32586896	3	4	442	1	0	0	0	0	1	0	0	0	13257	536	19	1	140	1	RFPL2	22	32586896	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08		32586896	18717670	35	24574											
TRIOBP	11078	broad.mit.edu	37	22	38121862	38121862	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr22:38121862C>T	ENST00000406386.3	+	7	3554	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1100					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.S1100F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGTGTCAGTCCCCCCAACAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	22											86	96	93					22																	38121862		1980	4131	6111	36451808	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3299C>T	22.37:g.38121862C>T	ENSP00000384312:p.Ser1100Phe		36451808	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	6.084	0.383722	0.11524	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24151	1.87	4.57	4.57	0.56435	.	.	.	.	.	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	T	0.01516	-1.1335	9	0.33940	T	0.23	.	12.7723	0.57427	0.0:1.0:0.0:0.0	.	1100	Q9H2D6	TARA_HUMAN	F	1100	ENSP00000384312:S1100F	ENSP00000384312:S1100F	S	+	2	0	TRIOBP	36451808	0.219000	0.23619	0.641000	0.29422	0.050000	0.14768	1.181000	0.32017	2.369000	0.80426	0.449000	0.29647	TCC		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38121862	C	T	38121862	3	4	442	1	0	0	0	0	1	0	0	0	16553	855	30	2	3317	2	TRIOBP	22	38121862	Missense_Mutation	SNP	C	TCGA-61-1919-01A-01W-0699-08	5534966	38121862	13182704	36	24575											
MAPK12	6300	broad.mit.edu	37	22	50693771	50693771	+	Silent	SNP	C	C	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chr22:50693771C>T	ENST00000215659.8	-	11	1194	c.879G>A	c.(877-879)gtG>gtA	p.V293V	MAPK12_ENST00000395780.1_Silent_p.V203V|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.V283V(1)|p.V293V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCGTCCAGCACCAGCATCT	0.662																																																2	Substitution - coding silent(2)	ovary(2)	22											87	86	86					22																	50693771		2203	4299	6502	49035898	SO:0001819	synonymous_variant	6300			U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.879G>A	22.37:g.50693771C>T			49035898	Q14260|Q6IC53|Q99588|Q99672	Silent	SNP	ENST00000215659.8	37	CCDS14089.1																																																																																				0.662	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		T	50693771	C	T	50693771	2	4	442	1	0	0	0	0	0	0	0	1	9274	697	25	2		2	MAPK12	22	50693771	Silent	SNP	C	TCGA-61-1919-01A-01W-0699-08	12571909	50693771	610795	37	24576											
GPR173	54328	broad.mit.edu	37	X	53106090	53106090	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chrX:53106090G>T	ENST00000332582.4	+	2	778	c.287G>T	c.(286-288)tGc>tTc	p.C96F		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	96					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.C96F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GCACTCAGCTGCAAGATTGTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	X											113	94	100					X																	53106090		2203	4300	6503	53122815	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.287G>T	X.37:g.53106090G>T	ENSP00000331600:p.Cys96Phe		53122815	B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222332	0.58560	.	.	ENSG00000184194	ENST00000332582	T	0.62105	0.05	4.25	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81640	0.4865	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85731	0.1331	10	0.87932	D	0	-10.9164	13.2145	0.59851	0.0:0.0:1.0:0.0	.	96	Q9NS66	GP173_HUMAN	F	96	ENSP00000331600:C96F	ENSP00000331600:C96F	C	+	2	0	GPR173	53122815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	1.974000	0.57490	0.529000	0.55759	TGC		0.597	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		T	53106090	G	T	53106090	3	4	442	1	0	0	0	0	1	0	0	0	6671	1319	46	3	289	3	GPR173	23	53106090	Missense_Mutation	SNP	G	TCGA-61-1919-01A-01W-0699-08		53106090	102164470	38	24577											
ABCB7	22	broad.mit.edu	37	X	74295252	74295252	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1919-01A-01W-0699-08	TCGA-61-1919-11A-01W-0700-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	68b5ce1f-627d-4035-9c77-625d84ec9328	1487179e-2125-46a3-9cf4-5a0a233ccbc0	g.chrX:74295252A>G	ENST00000373394.3	-	6	807	c.800T>C	c.(799-801)tTg>tCg	p.L267S	ABCB7_ENST00000339447.4_Missense_Mutation_p.L227S|ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000253577.3_Missense_Mutation_p.L268S			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	267	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)	p.L268S(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTAAATACCAAAGCACTCAG	0.393																																																1	Substitution - Missense(1)	ovary(1)	X											108	92	97					X																	74295252		2203	4300	6503	74211977	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.800T>C	X.37:g.74295252A>G	ENSP00000362492:p.Leu267Ser		74211977	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	A	22.0	4.227566	0.79576	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.56	5.56	0.83823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92622	0.7656	L	0.58302	1.8	0.80722	D	1	P;D;D;P;D	0.76494	0.938;0.999;0.999;0.95;0.999	P;D;D;P;D	0.83275	0.804;0.991;0.996;0.876;0.994	D	0.91745	0.5407	10	0.35671	T	0.21	-22.3271	13.8405	0.63435	1.0:0.0:0.0:0.0	.	241;227;268;267;268	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	S	241;268;227;267;241	ENSP00000253577:L268S;ENSP00000343849:L227S;ENSP00000362492:L267S;ENSP00000436586:L241S	ENSP00000253577:L268S	L	-	2	0	ABCB7	74211977	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.962000	0.93254	1.865000	0.54081	0.417000	0.27973	TTG		0.393	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		G	74295252	A	G	74295252	3	3	442	1	0	0	0	0	1	0	0	0	46	131	5	4	1502	4	ABCB7	23	74295252	Missense_Mutation	SNP	A	TCGA-61-1919-01A-01W-0699-08	21189162	74295252	80975308	39	24578											
UBXN11	91544	broad.mit.edu	37	1	26610659	26610659	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr1:26610659G>A	ENST00000374222.1	-	13	1515	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	UBXN11_ENST00000314675.7_Missense_Mutation_p.R231W|UBXN11_ENST00000374217.2_Missense_Mutation_p.R318W|UBXN11_ENST00000374221.3_Missense_Mutation_p.R351W|UBXN11_ENST00000374223.1_Missense_Mutation_p.R108W|UBXN11_ENST00000357089.4_Missense_Mutation_p.R318W			Q5T124	UBX11_HUMAN	UBX domain protein 11	351						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R351W(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ATGGGGCCCCGGATGTCAATC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											114	119	118					1																	26610659		1886	4106	5992	26483246	SO:0001583	missense	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1051C>T	1.37:g.26610659G>A	ENSP00000363339:p.Arg351Trp		26483246	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029843	0.75504	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.33438	1.45;1.41;1.66;1.56;1.56;1.66	5.01	4.07	0.47477	.	0.172208	0.45867	D	0.000327	T	0.54743	0.1877	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.984;0.999;0.999;0.986	T	0.59726	-0.7400	10	0.87932	D	0	-15.2002	13.3696	0.60705	0.0:0.0:0.8409:0.1591	.	318;313;231;351	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	W	231;108;318;351;351;318	ENSP00000324721:R231W;ENSP00000363340:R108W;ENSP00000349601:R318W;ENSP00000363338:R351W;ENSP00000363339:R351W;ENSP00000363334:R318W	ENSP00000324721:R231W	R	-	1	2	UBXN11	26483246	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.907000	0.48743	1.053000	0.40415	0.491000	0.48974	CGG		0.592	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		A	26610659	G	A	26610659	3	1	443	1	0	0	0	0	1	0	0	0	16913	1115	39	1	527	1	UBXN11	1	26610659	Missense_Mutation	SNP	G	TCGA-61-1995-01A-01W-0722-08		26610659	222639962	1	24579											
EIF2AK3	9451	broad.mit.edu	37	2	88890407	88890407	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr2:88890407T>G	ENST00000303236.3	-	5	1232	c.931A>C	c.(931-933)Aag>Cag	p.K311Q	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.K160Q	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	311					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.K310Q(1)		ovary(3)	3						ACCGAAACCTTTATCACTATG	0.398																																					GBM(138;671 1851 16235 39058 45249)											1	Substitution - Missense(1)	ovary(1)	2											174	165	168					2																	88890407		2203	4300	6503	88671522	SO:0001583	missense	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.931A>C	2.37:g.88890407T>G	ENSP00000307235:p.Lys311Gln		88671522	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949941	0.92660	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.26660	1.72;1.72;1.72	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.78801	2.425	0.54753	D	0.999984	D	0.76494	0.999	D	0.81914	0.995	T	0.57780	-0.7752	10	0.72032	D	0.01	-31.397	16.2774	0.82651	0.0:0.0:0.0:1.0	.	311	Q9NZJ5	E2AK3_HUMAN	Q	160;311;160;190	ENSP00000408325:K160Q;ENSP00000307235:K311Q;ENSP00000412076:K190Q	ENSP00000307235:K311Q	K	-	1	0	EIF2AK3	88671522	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.259000	0.78381	2.247000	0.74100	0.482000	0.46254	AAG		0.398	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		G	88890407	T	G	88890407	3	3	443	1	0	0	0	0	1	0	0	0	4998	1850	64	5	2471	5	EIF2AK3	2	88890407	Missense_Mutation	SNP	T	TCGA-61-1995-01A-01W-0722-08		88890407	154308966	2	24580											
GTF3C3	9330	broad.mit.edu	37	2	197664243	197664243	+	Silent	SNP	G	G	C			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr2:197664243G>C	ENST00000263956.3	-	1	182	c.93C>G	c.(91-93)cgC>cgG	p.R31R	GTF3C3_ENST00000409364.3_Silent_p.R31R	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	31					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R31R(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTTTCTTCTCGCGGGTTTTTC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	2											127	135	132					2																	197664243		2203	4300	6503	197372488	SO:0001819	synonymous_variant	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.93C>G	2.37:g.197664243G>C			197372488	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	CCDS2316.1																																																																																				0.527	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			C	197664243	G	C	197664243	2	2	443	1	0	0	0	0	0	0	0	1	6874	1074	38	3		3	GTF3C3	2	197664243	Silent	SNP	G	TCGA-61-1995-01A-01W-0722-08	108773836	197664243	45535130	3	24581											
PCDHA13	56136	broad.mit.edu	37	5	140263877	140263877	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr5:140263877C>T	ENST00000289272.2	+	1	2024	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	PCDHA13_ENST00000409494.1_Missense_Mutation_p.A675V|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	675	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A675V(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCCAAGCGCCACAGGCT	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)											1	Substitution - Missense(1)	ovary(1)	5											54	51	52					5																	140263877		2202	4300	6502	140244061	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2024C>T	5.37:g.140263877C>T	ENSP00000289272:p.Ala675Val		140244061	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874618	0.17395	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51071	0.72;0.78	4.08	1.24	0.21308	Cadherin (2);	.	.	.	.	T	0.42449	0.1203	M	0.71871	2.18	0.09310	N	1	B;B;B	0.27192	0.001;0.008;0.171	B;B;B	0.20577	0.001;0.002;0.03	T	0.27502	-1.0072	9	0.28530	T	0.3	.	8.3443	0.32263	0.1291:0.7112:0.0:0.1597	.	675;675;675	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	675	ENSP00000386821:A675V;ENSP00000289272:A675V	ENSP00000289272:A675V	A	+	2	0	PCDHA13	140244061	0.055000	0.20627	0.003000	0.11579	0.001000	0.01503	0.332000	0.19751	0.063000	0.16370	-0.808000	0.03180	GCG		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		T	140263877	C	T	140263877	3	4	443	1	0	0	0	0	1	0	0	0	11523	768	27	1	2026	1	PCDHA13	5	140263877	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08		140263877	40651383	4	24582											
CSMD3	114788	broad.mit.edu	37	8	113303838	113303838	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr8:113303838C>A	ENST00000297405.5	-	56	9119	c.8875G>T	c.(8875-8877)Gta>Tta	p.V2959L	CSMD3_ENST00000455883.2_Missense_Mutation_p.V2790L|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2889L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2919L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2959	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2959L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATAGAATACCACAGTGCCG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											125	124	124					8																	113303838		2203	4298	6501	113373014	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8875G>T	8.37:g.113303838C>A	ENSP00000297405:p.Val2959Leu		113373014	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907621	0.92107	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.35	5.35	0.76521	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000012	D	0.83078	0.5176	M	0.82056	2.57	0.58432	D	0.999998	D;D;P	0.67145	0.994;0.996;0.843	D;D;P	0.87578	0.986;0.998;0.525	T	0.82339	-0.0506	10	0.40728	T	0.16	.	19.4311	0.94768	0.0:1.0:0.0:0.0	.	2790;2959;2919	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2919;2959;2229;2790;2889	ENSP00000345799:V2919L;ENSP00000297405:V2959L;ENSP00000341558:V2229L;ENSP00000412263:V2790L;ENSP00000343124:V2889L	ENSP00000297405:V2959L	V	-	1	0	CSMD3	113373014	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	7.750000	0.85110	2.656000	0.90262	0.591000	0.81541	GTA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113303838	C	A	113303838	3	1	443	1	0	0	0	0	1	0	0	0	3946	507	18	3	2312	3	CSMD3	8	113303838	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08		113303838	33060184	5	24583											
SLC45A4	57210	broad.mit.edu	37	8	142228370	142228370	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr8:142228370C>T	ENST00000024061.3	-	4	1523	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	SLC45A4_ENST00000517878.1_Missense_Mutation_p.D457N|SLC45A4_ENST00000433583.2_Missense_Mutation_p.D399N|SLC45A4_ENST00000519067.1_Missense_Mutation_p.D406N	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.D406N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGTACAGGTCGCTCATGCTG	0.677																																																1	Substitution - Missense(1)	ovary(1)	8											45	43	43					8																	142228370		2203	4299	6502	142297552	SO:0001583	missense	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1216G>A	8.37:g.142228370C>T	ENSP00000024061:p.Asp406Asn		142297552	Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103313	0.94245	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.997	D	0.95502	0.8578	10	0.41790	T	0.15	-64.0122	19.116	0.93340	0.0:1.0:0.0:0.0	.	457;406;406	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	N	406;457;399;406	ENSP00000429059:D406N;ENSP00000428137:D457N;ENSP00000400799:D399N;ENSP00000024061:D406N	ENSP00000024061:D406N	D	-	1	0	SLC45A4	142297552	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.057000	0.76669	2.535000	0.85469	0.561000	0.74099	GAC		0.677	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		T	142228370	C	T	142228370	3	4	443	1	0	0	0	0	1	0	0	0	14646	884	31	1	1200	1	SLC45A4	8	142228370	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08	28924532	142228370	4135652	6	24584											
PRUNE2	158471	broad.mit.edu	37	9	79320738	79320738	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr9:79320738C>T	ENST00000376718.3	-	8	6575	c.6452G>A	c.(6451-6453)cGg>cAg	p.R2151Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R1792Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2151					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.R2151Q(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACAAACTCCCGTCCAGGCTC	0.512																																																1	Substitution - Missense(1)	ovary(1)	9											121	112	115					9																	79320738		1568	3582	5150	78510558	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6452G>A	9.37:g.79320738C>T	ENSP00000365908:p.Arg2151Gln		78510558	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	c	1.175	-0.639944	0.03557	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.40476	1.04;1.03	5.77	-4.72	0.03269	.	0.478135	0.19721	N	0.107588	T	0.09335	0.0230	N	0.01219	-0.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	10	0.02654	T	1	0.0605	6.0832	0.19952	0.1952:0.36:0.0:0.4448	.	2151	Q8WUY3	PRUN2_HUMAN	Q	2151;1792;2150	ENSP00000365908:R2151Q;ENSP00000397425:R1792Q	ENSP00000365908:R2151Q	R	-	2	0	PRUNE2	78510558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.366000	0.07563	-0.808000	0.04387	-2.625000	0.00155	CGG		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		T	79320738	C	T	79320738	3	4	443	1	0	0	0	0	1	0	0	0	12644	652	23	1	2862	1	PRUNE2	9	79320738	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08		79320738	61892693	7	24585											
SEC61A2	55176	broad.mit.edu	37	10	12199963	12199963	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr10:12199963C>G	ENST00000298428.9	+	9	923	c.834C>G	c.(832-834)agC>agG	p.S278R	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Missense_Mutation_p.S256R|SEC61A2_ENST00000304267.8_Missense_Mutation_p.S278R|SEC61A2_ENST00000379020.4_Intron	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	278					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.S278R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AGTACAGCAGCTACCCCATCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											206	154	172					10																	12199963		2203	4300	6503	12239969	SO:0001583	missense	55176			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.834C>G	10.37:g.12199963C>G	ENSP00000298428:p.Ser278Arg		12239969	A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.859159|2.859159	0.51376|0.51376	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000418772|ENST00000379033;ENST00000298428;ENST00000304267;ENST00000426560	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|SecY subunit domain (2);	.|0.134220	.|0.53938	.|D	.|0.000057	T|T	0.43144|0.43144	0.1234|0.1234	N|N	0.25890|0.25890	0.77|0.77	0.58432|0.58432	D|D	0.999994|0.999994	.|B;B;B	.|0.09022	.|0.0;0.002;0.001	.|B;B;B	.|0.11329	.|0.003;0.005;0.006	T|T	0.24977|0.24977	-1.0145|-1.0145	5|8	.|.	.|.	.|.	-5.2293|-5.2293	12.5567|12.5567	0.56257|0.56257	0.0:0.9244:0.0:0.0756|0.0:0.9244:0.0:0.0756	.|.	.|256;278;278	.|F8W773;Q9H9S3-2;Q9H9S3	.|.;.;S61A2_HUMAN	V|R	119|256;278;278;26	.|.	.|.	L|S	+|+	1|3	2|2	SEC61A2|SEC61A2	12239969|12239969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	0.922000|0.922000	0.28734|0.28734	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CTA|AGC		0.507	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		G	12199963	C	G	12199963	3	3	443	1	0	0	0	0	1	0	0	0	14004	796	28	3	868	3	SEC61A2	10	12199963	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08		12199963	123334784	8	24586											
PBLD	64081	broad.mit.edu	37	10	70051944	70051944	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr10:70051944G>T	ENST00000358769.2	-	5	537	c.335C>A	c.(334-336)gCc>gAc	p.A112D	PBLD_ENST00000432941.1_Missense_Mutation_p.A112D|PBLD_ENST00000495025.2_Missense_Mutation_p.A112D|PBLD_ENST00000336578.1_Missense_Mutation_p.A79D|PBLD_ENST00000309049.4_Missense_Mutation_p.A112D	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	112					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.A112D(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCTCGTCTGGCCCTTAGTTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											103	93	96					10																	70051944		2203	4300	6503	69721950	SO:0001583	missense	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.335C>A	10.37:g.70051944G>T	ENSP00000351619:p.Ala112Asp		69721950	A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861351	0.71949	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941;ENST00000277795	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.46	5.46	0.80206	.	0.125201	0.53938	D	0.000051	T	0.70168	0.3193	H	0.94847	3.59	0.42876	D	0.994152	D;D;P	0.63046	0.992;0.989;0.933	P;D;D	0.69654	0.9;0.965;0.933	T	0.79227	-0.1890	10	0.87932	D	0	-16.8677	16.5776	0.84705	0.0:0.0:1.0:0.0	.	79;112;112	F8W7D0;C9JIM0;P30039	.;.;PBLD_HUMAN	D	79;112;112;112;79	ENSP00000338041:A79D;ENSP00000351619:A112D;ENSP00000308466:A112D;ENSP00000395534:A112D;ENSP00000277795:A79D	ENSP00000277795:A79D	A	-	2	0	PBLD	69721950	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	3.856000	0.55964	2.720000	0.93068	0.655000	0.94253	GCC		0.458	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		T	70051944	G	T	70051944	3	4	443	1	0	0	0	0	1	0	0	0	11489	1203	42	3	644	3	PBLD	10	70051944	Missense_Mutation	SNP	G	TCGA-61-1995-01A-01W-0722-08	57851981	70051944	65482803	9	24587											
KCTD12	115207	broad.mit.edu	37	13	77459360	77459360	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr13:77459360C>A	ENST00000377474.2	-	1	1165	c.924G>T	c.(922-924)caG>caT	p.Q308H	KCTD12_ENST00000317765.2_Missense_Mutation_p.Q308H|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	308					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)	p.Q308H(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TGTCCTCGCTCTGGTCGGTGC	0.642											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	13											69	56	60					13																	77459360		2203	4300	6503	76357361	SO:0001583	missense	115207			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.924G>T	13.37:g.77459360C>A	ENSP00000366694:p.Gln308His	1175	76357361		Missense_Mutation	SNP	ENST00000377474.2	37	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627813	0.46944	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.44482	0.92;0.92	4.84	4.84	0.62591	.	0.055104	0.85682	D	0.000000	T	0.49115	0.1538	L	0.40543	1.245	0.43885	D	0.996506	D	0.63880	0.993	P	0.57324	0.818	T	0.29366	-1.0014	10	0.15952	T	0.53	.	17.9207	0.88965	0.0:1.0:0.0:0.0	.	308	Q96CX2	KCD12_HUMAN	H	308	ENSP00000366694:Q308H;ENSP00000317141:Q308H	ENSP00000317141:Q308H	Q	-	3	2	KCTD12	76357361	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.427000	0.34881	2.399000	0.81585	0.462000	0.41574	CAG		0.642	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		A	77459360	C	A	77459360	3	1	443	1	0	0	0	0	1	0	0	0	8099	912	32	3	57	3	KCTD12	13	77459360	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08		77459360	37710518	10	24588											
HSP90AA1	3320	broad.mit.edu	37	14	102551683	102551683	+	Missense_Mutation	SNP	C	C	G	rs140980766		TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr14:102551683C>G	ENST00000216281.8	-	4	820	c.615G>C	c.(613-615)gaG>gaC	p.E205D	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E26D|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E327D	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	205					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.E327D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCTTCACAATCTCCTTTATTC	0.378																																																1	Substitution - Missense(1)	ovary(1)	14											88	72	78					14																	102551683		2203	4300	6503	101621436	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.615G>C	14.37:g.102551683C>G	ENSP00000216281:p.Glu205Asp		101621436	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.588131	0.28268	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	4.29	2.42	0.29668	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	U	0.000000	T	0.06872	0.0175	N	0.25957	0.775	0.58432	D	0.999993	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12156	0.007;0.001;0.001	T	0.30238	-0.9985	10	0.11794	T	0.64	-30.5266	10.0797	0.42381	0.0:0.7721:0.0:0.2279	.	26;327;205	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	D	205;327;26;136	ENSP00000216281:E205D;ENSP00000335153:E327D;ENSP00000396189:E26D;ENSP00000450712:E136D	ENSP00000216281:E205D	E	-	3	2	HSP90AA1	101621436	0.932000	0.31603	0.996000	0.52242	0.997000	0.91878	0.057000	0.14279	0.370000	0.24538	0.650000	0.86243	GAG		0.378	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		G	102551683	C	G	102551683	3	3	443	1	0	0	0	0	1	0	0	0	7401	912	32	3	1615	3	HSP90AA1	14	102551683	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08		102551683	4797857	11	24589											
TGM7	116179	broad.mit.edu	37	15	43571405	43571405	+	Silent	SNP	G	G	A			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr15:43571405G>A	ENST00000452443.2	-	11	1753	c.1749C>T	c.(1747-1749)cgC>cgT	p.R583R		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	583					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R583R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGCCAGACACGCGGATGAGCT	0.517																																																1	Substitution - coding silent(1)	ovary(1)	15											97	82	87					15																	43571405		2202	4299	6501	41358697	SO:0001819	synonymous_variant	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1749C>T	15.37:g.43571405G>A			41358697		Silent	SNP	ENST00000452443.2	37	CCDS32213.1																																																																																				0.517	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		A	43571405	G	A	43571405	2	1	443	1	0	0	0	0	0	0	0	1	15835	1074	38	1		1	TGM7	15	43571405	Silent	SNP	G	TCGA-61-1995-01A-01W-0722-08		43571405	58959987	12	24590											
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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"	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	17	GRCh37	CM034930	TP53	M							132	103	113					17																	7577568		2203	4300	6503	7518293	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.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr		7518293	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577568	C	T	7577568	3	4	443	1	0	0	0	0	1	0	0	0	16381	478	17	2	577	2	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08		7577568	73617642	13	24591											
SYNRG	11276	broad.mit.edu	37	17	35913748	35913748	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr17:35913748C>T	ENST00000339208.6	-	14	2217	c.2077G>A	c.(2077-2079)Gat>Aat	p.D693N	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Missense_Mutation_p.D693N|SYNRG_ENST00000345615.4_Missense_Mutation_p.D615N|SYNRG_ENST00000591288.1_Missense_Mutation_p.D532N|SYNRG_ENST00000585472.1_Missense_Mutation_p.D614N|SYNRG_ENST00000502449.2_Missense_Mutation_p.D615N|SYNRG_ENST00000394378.2_Missense_Mutation_p.D615N	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	693	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.D693N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCATAAAATCTGCAAAGTCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	17											51	52	52					17																	35913748		2203	4300	6503	32987861	SO:0001583	missense	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2077G>A	17.37:g.35913748C>T	ENSP00000343610:p.Asp693Asn		32987861	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649353	0.87958	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.65549	0.42;-0.16;-0.09	6.17	6.17	0.99709	.	0.043746	0.85682	D	0.000000	T	0.78285	0.4259	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998;0.998	T	0.77474	-0.2574	10	0.72032	D	0.01	-11.559	19.8676	0.96824	0.0:1.0:0.0:0.0	.	532;615;615;615;693;693	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	N	693;532;693;615;615	ENSP00000005279:D693N;ENSP00000424893:D615N;ENSP00000377903:D615N	ENSP00000343610:D532N	D	-	1	0	SYNRG	32987861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.941000	0.99782	0.655000	0.94253	GAT		0.423	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		T	35913748	C	T	35913748	3	4	443	1	0	0	0	0	1	0	0	0	15460	913	32	2	1976	2	SYNRG	17	35913748	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08	28336180	35913748	45281462	14	24592											
ZNF548	147694	broad.mit.edu	37	19	57910960	57910960	+	Silent	SNP	C	C	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr19:57910960C>T	ENST00000366197.5	+	3	1555	c.1305C>T	c.(1303-1305)aaC>aaT	p.N435N	AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Silent_p.N447N|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N447N(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAACTCCAACCTCATTAAAC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	19											56	59	58					19																	57910960		2196	4299	6495	62602772	SO:0001819	synonymous_variant	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1305C>T	19.37:g.57910960C>T			62602772	Q96M05	Silent	SNP	ENST00000366197.5	37	CCDS46209.1																																																																																				0.473	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		T	57910960	C	T	57910960	2	4	443	1	0	0	0	0	0	0	0	1	17980	506	18	2		2	ZNF548	19	57910960	Silent	SNP	C	TCGA-61-1995-01A-01W-0722-08		57910960	1218023	15	24593											
CDC25B	994	broad.mit.edu	37	20	3781936	3781936	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr20:3781936G>T	ENST00000245960.5	+	8	1438	c.741G>T	c.(739-741)gaG>gaT	p.E247D	CDC25B_ENST00000379598.5_Missense_Mutation_p.E183D|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Missense_Mutation_p.E233D|CDC25B_ENST00000344256.6_Missense_Mutation_p.E183D|CDC25B_ENST00000340833.4_Missense_Mutation_p.E206D	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	247					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.E268D(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AAGTGGAGGAGCTCAGCCCCC	0.552																																																1	Substitution - Missense(1)	ovary(1)	20											113	109	110					20																	3781936		2203	4300	6503	3729936	SO:0001583	missense	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.741G>T	20.37:g.3781936G>T	ENSP00000245960:p.Glu247Asp		3729936	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	4.440	0.081389	0.08533	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	4.53	2.53	0.30540	.	0.738015	0.12994	N	0.422278	T	0.13157	0.0319	N	0.16098	0.37	0.29273	N	0.87052	B;B;B;B;B;P	0.41345	0.043;0.01;0.043;0.035;0.035;0.746	B;B;B;B;B;P	0.45167	0.044;0.026;0.044;0.026;0.026;0.472	T	0.12837	-1.0532	10	0.14252	T	0.57	0.8052	6.6888	0.23160	0.2387:0.0:0.7613:0.0	.	183;169;183;206;233;247	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	D	183;183;247;233;206	ENSP00000339125:E183D;ENSP00000368918:E183D;ENSP00000245960:E247D;ENSP00000405972:E233D;ENSP00000339170:E206D	ENSP00000245960:E247D	E	+	3	2	CDC25B	3729936	0.080000	0.21391	0.316000	0.25252	0.099000	0.18886	0.312000	0.19397	0.581000	0.29539	0.561000	0.74099	GAG		0.552	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		T	3781936	G	T	3781936	3	4	443	1	0	0	0	0	1	0	0	0	3063	962	34	3	771	3	CDC25B	20	3781936	Missense_Mutation	SNP	G	TCGA-61-1995-01A-01W-0722-08		3781936	59243584	16	24594											
CHD6	84181	broad.mit.edu	37	20	40120455	40120455	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chr20:40120455C>T	ENST00000373233.3	-	11	1496	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	CHD6_ENST00000309279.7_Missense_Mutation_p.R440Q	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	440	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R440Q(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGAAGCAGGCCGCTCCTAGGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	20											83	85	85					20																	40120455		2203	4300	6503	39553869	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1319G>A	20.37:g.40120455C>T	ENSP00000362330:p.Arg440Gln		39553869	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.261974|5.261974	0.95368|0.95368	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000440697|ENST00000373233;ENST00000309279	.|D;D	.|0.95554	.|-2.26;-3.74	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.50627	.|D	.|0.000102	D|D	0.97470|0.97470	0.9172|0.9172	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.98356|0.98356	1.0546|1.0546	5|10	.|0.87932	.|D	.|0	-13.4965|-13.4965	17.9265|17.9265	0.88985|0.88985	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|440	.|Q8TD26	.|CHD6_HUMAN	S|Q	143|440	.|ENSP00000362330:R440Q;ENSP00000308684:R440Q	.|ENSP00000308684:R440Q	G|R	-|-	1|2	0|0	CHD6|CHD6	39553869|39553869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.776000|7.776000	0.85560|0.85560	2.290000|2.290000	0.77057|0.77057	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.473	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			T	40120455	C	T	40120455	3	4	443	1	0	0	0	0	1	0	0	0	3329	652	23	1	6936	1	CHD6	20	40120455	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08	36338519	40120455	22905065	17	24595											
USP9X	8239	broad.mit.edu	37	X	41075555	41075555	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chrX:41075555A>G	ENST00000324545.8	+	35	6368	c.5735A>G	c.(5734-5736)gAt>gGt	p.D1912G	USP9X_ENST00000378308.2_Missense_Mutation_p.D1912G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1912	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.D1905G(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAAATGGATGATGACGAAGAA	0.393																																					Ovarian(172;1807 2695 35459 49286)											1	Substitution - Missense(1)	ovary(1)	X											123	120	121					X																	41075555		2200	4300	6500	40960499	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5735A>G	X.37:g.41075555A>G	ENSP00000316357:p.Asp1912Gly		40960499	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.088997	0.55968	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.06294	3.32;3.32	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.82517	2.595	0.80722	D	1	D;P	0.56287	0.975;0.927	P;P	0.52710	0.707;0.676	T	0.01053	-1.1467	10	0.62326	D	0.03	.	15.0965	0.72238	1.0:0.0:0.0:0.0	.	1912;1912	Q93008-1;Q93008	.;USP9X_HUMAN	G	1912	ENSP00000367558:D1912G;ENSP00000316357:D1912G	ENSP00000316357:D1912G	D	+	2	0	USP9X	40960499	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	8.952000	0.93031	1.948000	0.56530	0.441000	0.28932	GAT		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	41075555	A	G	41075555	3	3	443	1	0	0	0	0	1	0	0	0	17090	333	12	4	5869	4	USP9X	23	41075555	Missense_Mutation	SNP	A	TCGA-61-1995-01A-01W-0722-08		41075555	114195005	18	24596											
TEX13A	56157	broad.mit.edu	37	X	104464852	104464852	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01A-01W-0722-08	TCGA-61-1995-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	2372072a-dd15-4138-8ebe-bf88ee71c13f	c11aeb3b-66c2-4ddb-ad4b-7ed49b5a1931	g.chrX:104464852C>T	ENST00000413579.1	-	2	341	c.230G>A	c.(229-231)cGc>cAc	p.R77H	TEX13A_ENST00000372575.1_Missense_Mutation_p.R77H|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.R77H			Q9BXU3	TX13A_HUMAN	testis expressed 13A	77							zinc ion binding (GO:0008270)	p.R77H(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTGGGCAAAGCGCACTCCCAA	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											38	38	38					X																	104464852		2203	4299	6502	104351508	SO:0001583	missense	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.230G>A	X.37:g.104464852C>T	ENSP00000399753:p.Arg77His		104351508	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	4.856	0.159141	0.09236	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	-0.234	0.13074	.	0.851069	0.09639	N	0.775231	T	0.26412	0.0645	.	.	.	0.09310	N	1	P;P	0.41008	0.735;0.735	B;B	0.37650	0.255;0.14	T	0.16928	-1.0386	8	0.87932	D	0	.	5.5446	0.17057	0.0:0.4276:0.0:0.5724	.	77;77	C9JWK0;Q9BXU3	.;TX13A_HUMAN	H	77	.	ENSP00000361656:R77H	R	-	2	0	TEX13A	104351508	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.287000	0.08388	-0.185000	0.10550	-0.332000	0.08345	CGC		0.622	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		T	104464852	C	T	104464852	3	4	443	1	0	0	0	0	1	0	0	0	15776	768	27	1	1009	1	TEX13A	23	104464852	Missense_Mutation	SNP	C	TCGA-61-1995-01A-01W-0722-08	63389297	104464852	50805708	19	24597											
CYP4A22	284541	broad.mit.edu	37	1	47607866	47607866	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr1:47607866C>T	ENST00000371891.3	+	4	500	c.469C>T	c.(469-471)Cca>Tca	p.P157S	CYP4A22_ENST00000294337.3_Missense_Mutation_p.P157S|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P157S	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	157						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P157S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCCTGAAGCCATACGTGGG	0.557																																					Pancreas(88;1240 1470 2099 14214 37557)											1	Substitution - Missense(1)	ovary(1)	1											122	100	107					1																	47607866		2203	4300	6503	47380453	SO:0001583	missense	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.469C>T	1.37:g.47607866C>T	ENSP00000360958:p.Pro157Ser		47380453	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	5.301	0.240847	0.10077	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.66460	-0.21;-0.21;-0.21	1.7	0.722	0.18225	.	0.119600	0.56097	D	0.000022	T	0.56499	0.1989	L	0.42008	1.315	0.32003	N	0.60309	B;B	0.22276	0.007;0.067	B;B	0.34931	0.016;0.192	T	0.53872	-0.8377	10	0.45353	T	0.12	.	5.5165	0.16910	0.0:0.5949:0.2016:0.2036	.	157;157	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	S	157	ENSP00000360957:P157S;ENSP00000360958:P157S;ENSP00000294337:P157S	ENSP00000294337:P157S	P	+	1	0	CYP4A22	47380453	0.992000	0.36948	0.484000	0.27391	0.047000	0.14425	1.262000	0.32992	-0.386000	0.07821	-1.151000	0.01829	CCA		0.557	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		T	47607866	C	T	47607866	3	4	444	1	0	0	0	0	1	0	0	0	4184	739	26	2	483	2	CYP4A22	1	47607866	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08		47607866	201642755	1	24598											
ZNF644	84146	broad.mit.edu	37	1	91404919	91404919	+	Silent	SNP	T	T	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr1:91404919T>A	ENST00000370440.1	-	3	2209	c.1992A>T	c.(1990-1992)acA>acT	p.T664T	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.T664T			Q9H582	ZN644_HUMAN	zinc finger protein 644	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T664T(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTGATCCAAATGTTCGCTTCA	0.368																																																1	Substitution - coding silent(1)	ovary(1)	1											141	139	140					1																	91404919		2203	4300	6503	91177507	SO:0001819	synonymous_variant	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1992A>T	1.37:g.91404919T>A			91177507	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	CCDS731.1																																																																																				0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		A	91404919	T	A	91404919	2	1	444	1	0	0	0	0	0	0	0	1	18060	1451	51	5		5	ZNF644	1	91404919	Silent	SNP	T	TCGA-61-1998-01A-01W-0722-08	43797053	91404919	157845702	2	24599											
CRTC2	200186	broad.mit.edu	37	1	153925751	153925751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr1:153925751G>A	ENST00000368633.1	-	6	725	c.598C>T	c.(598-600)Cga>Tga	p.R200*	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	200					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.R200*(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCCCACGTCGGCTGGGCAGG	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	1											55	60	58					1																	153925751		2203	4300	6503	152192375	SO:0001587	stop_gained	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.598C>T	1.37:g.153925751G>A	ENSP00000357622:p.Arg200*		152192375	Q6UUV8|Q7Z3X7|Q8N332	Nonsense_Mutation	SNP	ENST00000368633.1	37	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307359	0.81247	.	.	ENSG00000160741	ENST00000368633	.	.	.	3.75	3.75	0.43078	.	0.099352	0.44483	D	0.000450	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3333	11.2299	0.48905	0.0:0.0:1.0:0.0	.	.	.	.	X	200	.	ENSP00000357622:R200X	R	-	1	2	CRTC2	152192375	0.911000	0.30947	0.982000	0.44146	0.948000	0.59901	3.300000	0.51834	2.104000	0.64026	0.455000	0.32223	CGA		0.488	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		A	153925751	G	A	153925751	4	1	444	1	0	0	0	0	0	1	0	0	3900	1124	39	1	1519	1	CRTC2	1	153925751	Nonsense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	62520832	153925751	95324870	3	24600											
ADAR	103	broad.mit.edu	37	1	154574163	154574163	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr1:154574163C>A	ENST00000368474.4	-	2	1154	c.955G>T	c.(955-957)Gct>Tct	p.A319S	ADAR_ENST00000292205.5_Missense_Mutation_p.A362S|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_Missense_Mutation_p.A24S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	319					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A319S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATATTTTTAGCCAAATTCAGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	1											75	75	75					1																	154574163		2203	4300	6503	152840787	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.955G>T	1.37:g.154574163C>A	ENSP00000357459:p.Ala319Ser		152840787	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561836	0.86335	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.45	4.45	0.53987	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.120167	0.56097	D	0.000034	T	0.51363	0.1670	L	0.58583	1.82	0.48901	D	0.999729	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.83275	0.98;0.98;0.996	T	0.52961	-0.8505	10	0.59425	D	0.04	-15.007	13.3967	0.60858	0.0:0.8421:0.1579:0.0	.	319;319;319	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	362;319;24;314	ENSP00000292205:A362S;ENSP00000357459:A319S;ENSP00000357456:A24S;ENSP00000431794:A314S	ENSP00000292205:A362S	A	-	1	0	ADAR	152840787	1.000000	0.71417	0.907000	0.35723	0.989000	0.77384	5.068000	0.64364	2.450000	0.82876	0.491000	0.48974	GCT		0.458	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		A	154574163	C	A	154574163	3	1	444	1	0	0	0	0	1	0	0	0	281	739	26	3	2781	3	ADAR	1	154574163	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	648412	154574163	94676458	4	24601											
TDRD5	163589	broad.mit.edu	37	1	179659906	179659906	+	Missense_Mutation	SNP	G	G	A	rs570123255		TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr1:179659906G>A	ENST00000367614.1	+	17	3133	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	TDRD5_ENST00000294848.8_Missense_Mutation_p.R925H|TDRD5_ENST00000444136.1_Missense_Mutation_p.R979H	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	925					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.R925H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAAGACAAGCGTCAAGAATCT	0.418													G|||	1	0.000199681	0	0	5008	,	,		20527	0		0	False		,,,				2504	0.001															2	Substitution - Missense(2)	ovary(1)|central_nervous_system(1)	1											82	79	80					1																	179659906		2203	4300	6503	177926529	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2774G>A	1.37:g.179659906G>A	ENSP00000356586:p.Arg925His		177926529	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	7.090	0.571962	0.13623	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.29917	2.76;2.76;2.98;1.55	5.17	2.11	0.27256	.	0.965874	0.08577	N	0.925189	T	0.12178	0.0296	N	0.03608	-0.345	0.09310	N	1	P;B	0.35844	0.524;0.015	B;B	0.30855	0.121;0.001	T	0.10965	-1.0607	10	0.62326	D	0.03	-15.9539	4.4233	0.11492	0.2005:0.1872:0.6123:0.0	.	979;925	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	H	925;925;979;435	ENSP00000356586:R925H;ENSP00000294848:R925H;ENSP00000406052:R979H;ENSP00000410744:R435H	ENSP00000294848:R925H	R	+	2	0	TDRD5	177926529	0.007000	0.16637	0.080000	0.20451	0.272000	0.26649	0.730000	0.26043	1.302000	0.44855	0.655000	0.94253	CGT		0.418	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		A	179659906	G	A	179659906	3	1	444	1	0	0	0	0	1	0	0	0	15733	1145	40	1	2836	1	TDRD5	1	179659906	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	25085743	179659906	69590715	5	24602											
GPR25	2848	broad.mit.edu	37	1	200843143	200843143	+	Silent	SNP	C	C	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr1:200843143C>T	ENST00000304244.2	+	1	1061	c.978C>T	c.(976-978)acC>acT	p.T326T		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	326					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T326T(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCGGGCGCACCGGCCGCCTGG	0.706																																																1	Substitution - coding silent(1)	ovary(1)	1											15	16	16					1																	200843143		2167	4217	6384	199109766	SO:0001819	synonymous_variant	2848			U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.978C>T	1.37:g.200843143C>T			199109766	A0AVJ5	Silent	SNP	ENST00000304244.2	37	CCDS1405.1																																																																																				0.706	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		T	200843143	C	T	200843143	2	4	444	1	0	0	0	0	0	0	0	1	6683	639	23	1		1	GPR25	1	200843143	Silent	SNP	C	TCGA-61-1998-01A-01W-0722-08	21183237	200843143	48407478	6	24603											
SIPA1L2	57568	broad.mit.edu	37	1	232650408	232650408	+	Silent	SNP	G	G	C			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr1:232650408G>C	ENST00000366630.1	-	2	1036	c.678C>G	c.(676-678)gtC>gtG	p.V226V	SIPA1L2_ENST00000262861.4_Silent_p.V226V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	226					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.V226V(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCCAAAAGGGACCATTGCTT	0.468																																																1	Substitution - coding silent(1)	ovary(1)	1											99	98	98					1																	232650408		1880	4108	5988	230717031	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.678C>G	1.37:g.232650408G>C			230717031	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	CCDS41474.1																																																																																				0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		C	232650408	G	C	232650408	2	2	444	1	0	0	0	0	0	0	0	1	14333	1161	41	3		3	SIPA1L2	1	232650408	Silent	SNP	G	TCGA-61-1998-01A-01W-0722-08	31807265	232650408	16600213	7	24604											
OR2L2	26246	broad.mit.edu	37	1	248201606	248201606	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr1:248201606T>A	ENST00000366479.2	+	1	133	c.37T>A	c.(37-39)Tta>Ata	p.L13I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGATTTCATCTTATTGGGGCT	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											133	128	130					1																	248201606		2203	4300	6503	246268229	SO:0001583	missense	26246			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.37T>A	1.37:g.248201606T>A	ENSP00000355435:p.Leu13Ile		246268229	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	12.95	2.091426	0.36952	.	.	ENSG00000203663	ENST00000366479	T	0.00540	6.7	2.13	-0.717	0.11208	.	.	.	.	.	T	0.01730	0.0055	M	0.86864	2.845	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.44544	-0.9321	9	0.72032	D	0.01	.	2.1238	0.03732	0.2439:0.3168:0.0:0.4393	.	13	Q8NH16	OR2L2_HUMAN	I	13	ENSP00000355435:L13I	ENSP00000355435:L13I	L	+	1	2	OR2L2	246268229	0.000000	0.05858	0.020000	0.16555	0.131000	0.20780	-2.292000	0.01146	-0.017000	0.14103	0.172000	0.16884	TTA		0.363	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		A	248201606	T	A	248201606	3	1	444	1	0	0	0	0	1	0	0	0	11007	1606	56	5	39	5	OR2L2	1	248201606	Missense_Mutation	SNP	T	TCGA-61-1998-01A-01W-0722-08	15551198	248201606	1049015	8	24605											
FSHR	2492	broad.mit.edu	37	2	49190293	49190293	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr2:49190293A>T	ENST00000406846.2	-	10	1786	c.1667T>A	c.(1666-1668)gTg>gAg	p.V556E	FSHR_ENST00000304421.4_Missense_Mutation_p.V530E|FSHR_ENST00000346173.3_Missense_Mutation_p.V494E|FSHR_ENST00000541117.1_Missense_Mutation_p.V292E	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	556					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.V556E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GGGGTTCCGCACTGTGAGGTA	0.532									Gonadal Dysgenesis, 46 XX																																							1	Substitution - Missense(1)	ovary(1)	2											119	97	105					2																	49190293		2203	4300	6503	49043797	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1667T>A	2.37:g.49190293A>T	ENSP00000384708:p.Val556Glu		49043797	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026121	0.75390	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.284833	0.32935	N	0.005480	T	0.73760	0.3628	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.81831	-0.0752	9	.	.	.	.	14.958	0.71131	1.0:0.0:0.0:0.0	.	530;494;556	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	E	556;494;530;292	ENSP00000384708:V556E;ENSP00000333908:V494E;ENSP00000306780:V530E;ENSP00000444172:V292E	.	V	-	2	0	FSHR	49043797	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.087000	0.94110	2.371000	0.80710	0.533000	0.62120	GTG		0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			T	49190293	A	T	49190293	3	4	444	1	0	0	0	0	1	0	0	0	6073	159	6	5	424	5	FSHR	2	49190293	Missense_Mutation	SNP	A	TCGA-61-1998-01A-01W-0722-08		49190293	194009080	9	24606											
PLEKHM3	389072	broad.mit.edu	37	2	208842237	208842237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr2:208842237C>T	ENST00000427836.2	-	3	1173	c.684G>A	c.(682-684)tgG>tgA	p.W228*	PLEKHM3_ENST00000389247.4_Nonsense_Mutation_p.W228*|PLEKHM3_ENST00000457206.1_Nonsense_Mutation_p.W228*	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	228	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.W228*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACAGCTTTGCCAGTAACTGT	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	2											241	229	233					2																	208842237		1923	4120	6043	208550482	SO:0001587	stop_gained	389072			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.684G>A	2.37:g.208842237C>T	ENSP00000417003:p.Trp228*		208550482	B9EKV2|Q8WW68	Nonsense_Mutation	SNP	ENST00000427836.2	37	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	43	10.246887	0.99368	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4116	0.99017	0.0:1.0:0.0:0.0	.	.	.	.	X	228	.	ENSP00000373899:W228X	W	-	3	0	PLEKHM3	208550482	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.294000	0.78760	2.827000	0.97445	0.655000	0.94253	TGG		0.418	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		T	208842237	C	T	208842237	4	4	444	1	0	0	0	0	0	1	0	0	12082	740	26	2	1625	2	PLEKHM3	2	208842237	Nonsense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	159651944	208842237	34357136	10	24607											
SLC9A10	285335	broad.mit.edu	37	3	111888085	111888085	+	Missense_Mutation	SNP	C	C	T	rs374547341		TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr3:111888085C>T	ENST00000305815.5	-	24	3262	c.3010G>A	c.(3010-3012)Gct>Act	p.A1004T	SLC9C1_ENST00000487372.1_Missense_Mutation_p.A956T	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1004					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.A1004T(1)									GCTGTAATAGCGAGTCCAAGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	3						C	THR/ALA	0,4406		0,0,2203	107	103	105		3010	1	0.6	3		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A10	NM_183061.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1004/1178	111888085	1,13005	2203	4300	6503	113370775	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3010G>A	3.37:g.111888085C>T	ENSP00000306627:p.Ala1004Thr		113370775	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147062	0.57151	0.0	1.16E-4	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77358	-1.09;-1.09	5.83	1.0	0.19881	Cyclic nucleotide-binding-like (1);Cyclic nucleotide-binding domain (1);	0.821439	0.10954	N	0.615730	T	0.63046	0.2478	L	0.34521	1.04	0.19575	N	0.999967	P;P	0.44659	0.588;0.84	B;B	0.36030	0.216;0.17	T	0.50964	-0.8765	10	0.45353	T	0.12	4.47	8.6616	0.34097	0.3433:0.5616:0.0:0.0951	.	956;1004	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	T	1004;956	ENSP00000306627:A1004T;ENSP00000420688:A956T	ENSP00000306627:A1004T	A	-	1	0	SLC9A10	113370775	0.876000	0.30132	0.630000	0.29268	0.834000	0.47266	0.078000	0.14761	0.244000	0.21351	0.603000	0.83216	GCT		0.348	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		T	111888085	C	T	111888085	3	4	444	1	0	0	0	0	1	0	0	0	14713	768	27	1	547	1	SLC9A10	3	111888085	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08		111888085	86134345	11	24608											
RAPGEF6	51735	broad.mit.edu	37	5	130764612	130764612	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr5:130764612G>T	ENST00000509018.1	-	27	4968	c.4763C>A	c.(4762-4764)gCa>gAa	p.A1588E	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1638E|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1596E|RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000507093.1_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1588					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.A1588E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTCGCTATCTGCATCAGTCAC	0.408																																					Melanoma(168;435 1955 13113 13877 23213)											1	Substitution - Missense(1)	ovary(1)	5											121	115	117					5																	130764612		2203	4300	6503	130792511	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4763C>A	5.37:g.130764612G>T	ENSP00000421684:p.Ala1588Glu		130792511	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948111	0.34377	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	T;T;T	0.23348	1.91;1.91;2.0	4.92	4.04	0.47022	.	0.326234	0.29972	N	0.010730	T	0.26846	0.0657	L	0.54323	1.7	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.07443	-1.0772	10	0.59425	D	0.04	.	13.9149	0.63890	0.0:0.2905:0.7095:0.0	.	1596;1638;1588	B7ZML2;E9PCH4;Q8TEU7	.;.;RPGF6_HUMAN	E	1588;1596;1638	ENSP00000421684:A1588E;ENSP00000296859:A1596E;ENSP00000426948:A1638E	ENSP00000426948:A1638E	A	-	2	0	RAPGEF6;FNIP1	130792511	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	3.795000	0.55499	1.304000	0.44892	0.655000	0.94253	GCA		0.408	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		T	130764612	G	T	130764612	3	4	444	1	0	0	0	0	1	0	0	0	13051	1319	46	3	50	3	RAPGEF6	5	130764612	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08		130764612	50150648	12	24609											
PCDHGB7	56099	broad.mit.edu	37	5	140798423	140798423	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr5:140798423G>A	ENST00000398594.2	+	1	997	c.997G>A	c.(997-999)Gta>Ata	p.V333I	PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V333I(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTGTAAAGTAATTGTAGA	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											74	70	71					5																	140798423		1881	4107	5988	140778607	SO:0001583	missense	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.997G>A	5.37:g.140798423G>A	ENSP00000381594:p.Val333Ile		140778607	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	4.959	0.178126	0.09443	.	.	ENSG00000254122	ENST00000398594	T	0.59906	0.23	5.57	1.71	0.24356	Cadherin (4);Cadherin-like (1);	0.324022	0.16289	U	0.220988	T	0.47266	0.1436	L	0.33710	1.025	0.22610	N	0.998934	B;B	0.23377	0.082;0.084	B;B	0.37508	0.252;0.094	T	0.43845	-0.9366	10	0.30078	T	0.28	.	6.4145	0.21710	0.2886:0.1206:0.5907:0.0	.	333;333	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	I	333	ENSP00000381594:V333I	ENSP00000381594:V333I	V	+	1	0	PCDHGB7	140778607	0.749000	0.28305	1.000000	0.80357	0.325000	0.28411	0.272000	0.18644	0.286000	0.22352	0.462000	0.41574	GTA		0.403	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		A	140798423	G	A	140798423	3	1	444	1	0	0	0	0	1	0	0	0	11568	1029	36	2	999	2	PCDHGB7	5	140798423	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	10033811	140798423	40116837	13	24610											
NUP153	9972	broad.mit.edu	37	6	17637764	17637764	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr6:17637764G>C	ENST00000262077.2	-	16	2083	c.2084C>G	c.(2083-2085)aCt>aGt	p.T695S	NUP153_ENST00000537253.1_Missense_Mutation_p.T726S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	695					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.T695S(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTCAATTCCAGTCTGTTTAGC	0.413																																																1	Substitution - Missense(1)	ovary(1)	6											219	192	201					6																	17637764		2203	4300	6503	17745743	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2084C>G	6.37:g.17637764G>C	ENSP00000262077:p.Thr695Ser		17745743	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516631	0.27123	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07216	3.22;3.21	6.11	5.19	0.71726	.	0.391146	0.21995	N	0.066092	T	0.02304	0.0071	L	0.29908	0.895	0.31814	N	0.626834	B;B;B	0.28055	0.199;0.011;0.026	B;B;B	0.33620	0.167;0.014;0.021	T	0.44483	-0.9325	10	0.12766	T	0.61	-11.9288	7.5501	0.27790	0.1372:0.1416:0.7212:0.0	.	726;675;695	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	695;675;726	ENSP00000262077:T695S;ENSP00000444029:T726S	ENSP00000262077:T695S	T	-	2	0	NUP153	17745743	0.076000	0.21285	1.000000	0.80357	0.848000	0.48234	1.412000	0.34714	2.906000	0.99361	0.655000	0.94253	ACT		0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			C	17637764	G	C	17637764	3	2	444	1	0	0	0	0	1	0	0	0	10755	1029	36	3	2371	3	NUP153	6	17637764	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08		17637764	153477303	14	24611											
ZNF187	0	broad.mit.edu	37	6	28243995	28243995	+	IGR	SNP	G	G	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr6:28243995G>A								NKAPL (15259 upstream) : PGBD1 (5318 downstream)																							GATTGAGAATGGGAAGCTTAT	0.393																																																0			6											72	68	69					6																	28243995		1838	4097	5935	28351974	SO:0001628	intergenic_variant	7741																															6.37:g.28243995G>A			28351974		Missense_Mutation	SNP		37																																																																																				0	0.393									A	28243995	G	A	28243995	1	1	444	0	1	0	0	0	0	0	0	0	17753	1348	47	2		2	ZNF187	6	28243995	IGR	SNP	G	TCGA-61-1998-01A-01W-0722-08	10606231	28243995	142871072	15	24612											
GPR115	221393	broad.mit.edu	37	6	47682262	47682262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr6:47682262G>A	ENST00000283303.2	+	6	1539	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Nonsense_Mutation_p.W427*|GPR115_ENST00000371220.1_Nonsense_Mutation_p.W484*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	427					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W427*(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCACAGTGTGGTCCCGGGTGG	0.488																																					GBM(22;431 510 9010 26644 32828)											1	Substitution - Nonsense(1)	ovary(1)	6											183	159	167					6																	47682262		2203	4300	6503	47790221	SO:0001587	stop_gained	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1281G>A	6.37:g.47682262G>A	ENSP00000283303:p.Trp427*		47790221	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Nonsense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	37	6.330668	0.97480	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.894	18.6292	0.91354	0.0:0.0:1.0:0.0	.	.	.	.	X	484;427;427	.	ENSP00000283303:W427X	W	+	3	0	GPR115	47790221	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	9.778000	0.99011	2.721000	0.93114	0.655000	0.94253	TGG		0.488	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		A	47682262	G	A	47682262	4	1	444	1	0	0	0	0	0	1	0	0	6632	1270	44	2	1299	2	GPR115	6	47682262	Nonsense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	19438267	47682262	123432805	16	24613											
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																																1	Substitution - Missense(1)	ovary(1)	7						C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116	121	119		13,13,13	4	0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	37348807	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr		37348807	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		T	37382282	C	T	37382282	3	4	444	1	0	0	0	0	1	0	0	0	5065	768	27	1	2254	1	ELMO1	7	37382282	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08		37382282	121756381	17	24614											
ZMIZ2	83637	broad.mit.edu	37	7	44796130	44796130	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr7:44796130C>G	ENST00000309315.4	+	3	280	c.157C>G	c.(157-159)Cag>Gag	p.Q53E	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.Q53E|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.Q53E|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.Q53E|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.Q53E	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	53	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.Q53E(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAACGCGACACAGAGCCAGGT	0.592																																					NSCLC(20;604 852 1948 16908 50522)											1	Substitution - Missense(1)	ovary(1)	7											69	73	71					7																	44796130		2133	4243	6376	44762655	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.157C>G	7.37:g.44796130C>G	ENSP00000311778:p.Gln53Glu		44762655	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566078	0.65651	.	.	ENSG00000122515	ENST00000413916;ENST00000457123;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	D;D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16;-4.16	4.34	4.34	0.51931	.	0.131249	0.32935	N	0.005475	D	0.95962	0.8685	M	0.62723	1.935	0.31237	N	0.695598	B;P;B	0.46656	0.288;0.882;0.185	B;P;B	0.47573	0.086;0.55;0.054	D	0.95822	0.8850	10	0.66056	D	0.02	-7.5575	15.7692	0.78152	0.0:1.0:0.0:0.0	.	53;53;53	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	E	53	ENSP00000409648:Q53E;ENSP00000415501:Q53E;ENSP00000311778:Q53E;ENSP00000414723:Q53E;ENSP00000396601:Q53E;ENSP00000265346:Q53E	ENSP00000265346:Q53E	Q	+	1	0	ZMIZ2	44762655	0.974000	0.33945	0.822000	0.32727	0.844000	0.47949	2.284000	0.43478	2.251000	0.74343	0.467000	0.42956	CAG		0.592	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		G	44796130	C	G	44796130	3	3	444	1	0	0	0	0	1	0	0	0	17697	479	17	3	163	3	ZMIZ2	7	44796130	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	7413848	44796130	114342533	18	24615											
STAG3	10734	broad.mit.edu	37	7	99786618	99786618	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr7:99786618C>A	ENST00000426455.1	+	7	1101	c.694C>A	c.(694-696)Cgt>Agt	p.R232S	STAG3_ENST00000317296.5_Missense_Mutation_p.R232S|STAG3_ENST00000394018.2_Missense_Mutation_p.R174S	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	232					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R232S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGCGCCTTCCGTCACACTAG	0.517																																																1	Substitution - Missense(1)	ovary(1)	7											90	89	89					7																	99786618		2203	4300	6503	99624554	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.694C>A	7.37:g.99786618C>A	ENSP00000400359:p.Arg232Ser		99624554	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.275914	0.80580	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296;ENST00000439782	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.41	5.41	0.78517	STAG (1);	0.000000	0.48286	D	0.000189	D	0.84651	0.5519	M	0.88906	2.99	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	D	0.86997	0.2114	10	0.87932	D	0	-12.1306	16.7269	0.85424	0.0:1.0:0.0:0.0	.	174;232	B4DZ10;Q9UJ98	.;STAG3_HUMAN	S	232;174;190;232;174	ENSP00000400359:R232S;ENSP00000377586:R174S;ENSP00000319318:R232S;ENSP00000397067:R174S	ENSP00000319318:R232S	R	+	1	0	STAG3	99624554	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.952000	0.49097	2.821000	0.97095	0.555000	0.69702	CGT		0.517	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		A	99786618	C	A	99786618	3	1	444	1	0	0	0	0	1	0	0	0	15246	652	23	3	716	3	STAG3	7	99786618	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	54990488	99786618	59352045	19	24616											
GCC1	79571	broad.mit.edu	37	7	127222568	127222568	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr7:127222568C>A	ENST00000321407.2	-	2	2252	c.1828G>T	c.(1828-1830)Gcc>Tcc	p.A610S	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	610					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.A610S(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAGGCCAAGGCCACAGAACGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	7											69	67	68					7																	127222568		2203	4300	6503	127009804	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1828G>T	7.37:g.127222568C>A	ENSP00000318821:p.Ala610Ser		127009804	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791405	0.31685	.	.	ENSG00000179562	ENST00000321407	T	0.10960	2.82	5.1	5.1	0.69264	.	0.296786	0.37623	N	0.002014	T	0.08537	0.0212	L	0.41236	1.265	0.37468	D	0.915505	P	0.47106	0.89	B	0.38378	0.272	T	0.21143	-1.0254	10	0.07990	T	0.79	-14.8502	14.3609	0.66771	0.0:1.0:0.0:0.0	.	610	Q96CN9	GCC1_HUMAN	S	610	ENSP00000318821:A610S	ENSP00000318821:A610S	A	-	1	0	GCC1	127009804	0.949000	0.32298	1.000000	0.80357	0.995000	0.86356	1.213000	0.32407	2.518000	0.84900	0.655000	0.94253	GCC		0.607	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		A	127222568	C	A	127222568	3	1	444	1	0	0	0	0	1	0	0	0	6285	739	26	3	503	3	GCC1	7	127222568	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	27435950	127222568	31916095	20	24617											
RGS22	26166	broad.mit.edu	37	8	100999756	100999756	+	Missense_Mutation	SNP	C	C	A	rs182707509	byFrequency	TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr8:100999756C>A	ENST00000360863.6	-	21	3304	c.3110G>T	c.(3109-3111)cGt>cTt	p.R1037L	RGS22_ENST00000523287.1_Missense_Mutation_p.R856L|RGS22_ENST00000523437.1_Missense_Mutation_p.R1025L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1037	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R1037L(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGCCACAAAACGTTGAAATTG	0.358																																																1	Substitution - Missense(1)	ovary(1)	8											97	89	92					8																	100999756		1826	4082	5908	101068932	SO:0001583	missense	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3110G>T	8.37:g.100999756C>A	ENSP00000354109:p.Arg1037Leu		101068932	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380137	0.61845	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.01918	4.56;4.56;4.56	5.76	1.02	0.19986	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.283837	0.33515	N	0.004831	T	0.05456	0.0144	L	0.56769	1.78	0.27924	N	0.938133	P;P;P	0.44946	0.846;0.846;0.815	P;P;B	0.50860	0.652;0.652;0.338	T	0.05716	-1.0868	10	0.72032	D	0.01	.	11.0112	0.47663	0.0:0.6475:0.0:0.3525	.	1025;1037;856	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	L	1037;1024;856;1025	ENSP00000354109:R1037L;ENSP00000429382:R856L;ENSP00000428212:R1025L	ENSP00000354109:R1037L	R	-	2	0	RGS22	101068932	0.990000	0.36364	0.424000	0.26647	0.936000	0.57629	0.858000	0.27845	-0.088000	0.12506	0.573000	0.79308	CGT		0.358	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		A	100999756	C	A	100999756	3	1	444	1	0	0	0	0	1	0	0	0	13308	536	19	3	712	3	RGS22	8	100999756	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08		100999756	45364266	21	24618											
GTPBP4	23560	broad.mit.edu	37	10	1046802	1046802	+	Silent	SNP	C	C	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr10:1046802C>T	ENST00000360803.4	+	7	922	c.840C>T	c.(838-840)atC>atT	p.I280I	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.I164I|GTPBP4_ENST00000545048.1_Silent_p.I233I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	280	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.I280I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CTCTCTTCATCAACAAGGTGT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	10											224	216	219					10																	1046802		2203	4300	6503	1036802	SO:0001819	synonymous_variant	23560			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.840C>T	10.37:g.1046802C>T			1036802	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	CCDS31132.1																																																																																				0.458	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		T	1046802	C	T	1046802	2	4	444	1	0	0	0	0	0	0	0	1	6882	816	29	2		2	GTPBP4	10	1046802	Silent	SNP	C	TCGA-61-1998-01A-01W-0722-08		1046802	134487945	22	24619											
MAPK8	5599	broad.mit.edu	37	10	49628339	49628339	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr10:49628339C>T	ENST00000374189.1	+	6	773	c.592C>T	c.(592-594)Ctt>Ttt	p.L198F	MAPK8_ENST00000360332.3_Missense_Mutation_p.L198F|MAPK8_ENST00000374182.3_Missense_Mutation_p.L198F|MAPK8_ENST00000374174.1_Missense_Mutation_p.L198F|MAPK8_ENST00000395611.3_Missense_Mutation_p.L198F			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.L198F(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CGAGGTCATCCTTGGCATGGG	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											141	132	135					10																	49628339		2203	4300	6503	49298345	SO:0001583	missense	5599			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.592C>T	10.37:g.49628339C>T	ENSP00000363304:p.Leu198Phe		49298345	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715018	0.89112	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.38	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148370	0.46758	D	0.000261	T	0.69860	0.3158	M	0.62209	1.925	0.80722	D	1	P;B;B;B;B	0.36837	0.571;0.158;0.19;0.19;0.158	P;B;B;B;B	0.46479	0.518;0.187;0.284;0.284;0.259	T	0.68036	-0.5515	9	.	.	.	.	11.6095	0.51052	0.0:0.855:0.0:0.145	.	198;198;198;198;198	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	F	198	ENSP00000363304:L198F;ENSP00000363297:L198F;ENSP00000363294:L198F;ENSP00000353483:L198F;ENSP00000363291:L198F;ENSP00000363289:L198F;ENSP00000378974:L198F	.	L	+	1	0	MAPK8	49298345	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	3.266000	0.51569	1.398000	0.46701	0.655000	0.94253	CTT		0.393	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			T	49628339	C	T	49628339	3	4	444	1	0	0	0	0	1	0	0	0	9283	681	24	2	610	2	MAPK8	10	49628339	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	48581537	49628339	85906408	23	24620											
CSTF2T	23283	broad.mit.edu	37	10	53458890	53458890	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr10:53458890C>T	ENST00000331173.4	-	1	465	c.420G>A	c.(418-420)atG>atA	p.M140I	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	140					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M140I(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCAGCTCAAACATCTGCTCCG	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											142	138	140					10																	53458890		2203	4300	6503	53128896	SO:0001583	missense	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.420G>A	10.37:g.53458890C>T	ENSP00000332444:p.Met140Ile		53128896	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329217	0.81690	.	.	ENSG00000177613	ENST00000331173	T	0.25250	1.81	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	M	0.85299	2.745	0.80722	D	1	D	0.59357	0.985	D	0.64877	0.93	T	0.59974	-0.7353	10	0.72032	D	0.01	-6.7129	16.1846	0.81942	0.0:1.0:0.0:0.0	.	140	Q9H0L4	CSTFT_HUMAN	I	140	ENSP00000332444:M140I	ENSP00000332444:M140I	M	-	3	0	CSTF2T	53128896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.443000	0.66581	2.767000	0.95098	0.655000	0.94253	ATG		0.507	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		T	53458890	C	T	53458890	3	4	444	1	0	0	0	0	1	0	0	0	3985	478	17	2	1434	2	CSTF2T	10	53458890	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	3830551	53458890	82075857	24	24621											
VCL	7414	broad.mit.edu	37	10	75857087	75857087	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr10:75857087A>T	ENST00000211998.4	+	13	1963	c.1869A>T	c.(1867-1869)gaA>gaT	p.E623D	VCL_ENST00000372755.3_Missense_Mutation_p.E623D|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	623	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E623D(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CTAACAGGGAAGAGGTGGGTA	0.498																																																1	Substitution - Missense(1)	ovary(1)	10											89	86	87					10																	75857087		2203	4300	6503	75527093	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1869A>T	10.37:g.75857087A>T	ENSP00000211998:p.Glu623Asp		75527093	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.684785	0.29872	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.62364	0.03;0.03;0.03	5.29	2.58	0.30949	.	0.233607	0.43919	D	0.000507	T	0.37839	0.1018	N	0.12471	0.22	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.12656	-1.0539	10	0.36615	T	0.2	.	6.0399	0.19728	0.6454:0.0:0.086:0.2687	.	550;623;623	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	D	623;623;530;550;295	ENSP00000361841:E623D;ENSP00000211998:E623D;ENSP00000415489:E295D	ENSP00000211998:E623D	E	+	3	2	VCL	75527093	0.999000	0.42202	1.000000	0.80357	0.477000	0.33069	0.652000	0.24888	0.953000	0.37825	0.524000	0.50904	GAA		0.498	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		T	75857087	A	T	75857087	3	4	444	1	0	0	0	0	1	0	0	0	17139	69	3	5	1919	5	VCL	10	75857087	Missense_Mutation	SNP	A	TCGA-61-1998-01A-01W-0722-08	22398197	75857087	59677660	25	24622											
SEC23IP	11196	broad.mit.edu	37	10	121685734	121685734	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr10:121685734G>A	ENST00000369075.3	+	13	2380	c.2308G>A	c.(2308-2310)Gga>Aga	p.G770R	SEC23IP_ENST00000543134.1_Missense_Mutation_p.G559R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	770					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G770R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGTTGGCGCCGGACAGGTGAG	0.393																																																1	Substitution - Missense(1)	ovary(1)	10											135	139	138					10																	121685734		2203	4300	6503	121675724	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2308G>A	10.37:g.121685734G>A	ENSP00000358071:p.Gly770Arg		121675724	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109062	0.77096	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.43688	0.94;1.09	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66272	-0.5965	10	0.66056	D	0.02	-20.9074	19.8472	0.96713	0.0:0.0:1.0:0.0	.	559;770	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	R	770;559	ENSP00000358071:G770R;ENSP00000438773:G559R	ENSP00000358071:G770R	G	+	1	0	SEC23IP	121675724	1.000000	0.71417	0.934000	0.37439	0.310000	0.27922	9.148000	0.94652	2.701000	0.92244	0.591000	0.81541	GGA		0.393	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			A	121685734	G	A	121685734	3	1	444	1	0	0	0	0	1	0	0	0	13996	1117	39	1	2358	1	SEC23IP	10	121685734	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	45828647	121685734	13849013	26	24623											
MUC5B	727897	broad.mit.edu	37	11	1247994	1247994	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr11:1247994C>A	ENST00000529681.1	+	4	407	c.349C>A	c.(349-351)Cag>Aag	p.Q117K	MUC5B_ENST00000447027.1_Missense_Mutation_p.Q117K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	117	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.Q117K(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTCAACGTCCAGCTACGCCG	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											36	39	38					11																	1247994		2121	4241	6362	1204570	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.349C>A	11.37:g.1247994C>A	ENSP00000436812:p.Gln117Lys		1204570	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	7.099	0.573652	0.13623	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.58358	0.34;0.34	3.68	2.75	0.32379	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.66771	0.2823	M	0.79475	2.455	0.33353	D	0.57129	B;P;D	0.57899	0.375;0.889;0.981	B;P;P	0.57425	0.251;0.736;0.82	T	0.77480	-0.2572	9	0.87932	D	0	.	12.263	0.54661	0.1713:0.8287:0.0:0.0	.	117;773;117	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	K	117;117;117;150	ENSP00000436812:Q117K;ENSP00000415793:Q117K	ENSP00000343037:Q117K	Q	+	1	0	MUC5B	1204570	1.000000	0.71417	0.028000	0.17463	0.090000	0.18270	5.378000	0.66190	0.734000	0.32515	0.561000	0.74099	CAG		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1247994	C	A	1247994	3	1	444	1	0	0	0	0	1	0	0	0	9979	595	21	3	363	3	MUC5B	11	1247994	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08		1247994	133758522	27	24624											
RIC3	79608	broad.mit.edu	37	11	8132397	8132397	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr11:8132397C>G	ENST00000309737.6	-	6	957	c.958G>C	c.(958-960)Gct>Cct	p.A320P	RIC3_ENST00000425599.2_Missense_Mutation_p.A239P|RIC3_ENST00000539720.1_Missense_Mutation_p.A271P|RIC3_ENST00000343202.4_Missense_Mutation_p.A319P|RIC3_ENST00000335425.7_Missense_Mutation_p.A138P|RIC3_ENST00000396677.2_Missense_Mutation_p.A158P|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	320					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A319P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CTGAATCCAGCATTCTCTGCC	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											140	128	132					11																	8132397		2201	4296	6497	8088973	SO:0001583	missense	79608				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.958G>C	11.37:g.8132397C>G	ENSP00000308820:p.Ala320Pro		8088973	B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234267	0.58886	.	.	ENSG00000166405	ENST00000396677;ENST00000335425;ENST00000343202;ENST00000309737;ENST00000539720;ENST00000425599	T;T;T;T	0.35605	1.34;1.34;1.35;1.3	5.96	1.46	0.22682	.	0.515676	0.20092	N	0.099436	T	0.50377	0.1612	M	0.67953	2.075	0.40134	D	0.976753	D;D;D;D;D	0.76494	0.989;0.996;0.999;0.999;0.966	P;P;D;D;P	0.66979	0.885;0.885;0.948;0.948;0.696	T	0.50021	-0.8876	10	0.72032	D	0.01	.	7.1573	0.25645	0.1235:0.63:0.0:0.2465	.	239;138;320;319;158	B0B1U0;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;.;RIC3_HUMAN;.;.	P	158;138;319;320;271;239	ENSP00000344904:A319P;ENSP00000308820:A320P;ENSP00000443871:A271P;ENSP00000395320:A239P	ENSP00000308820:A320P	A	-	1	0	RIC3	8088973	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	1.503000	0.35715	0.401000	0.25424	-0.142000	0.14014	GCT		0.473	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		G	8132397	C	G	8132397	3	3	444	1	0	0	0	0	1	0	0	0	13357	710	25	3	155	3	RIC3	11	8132397	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	6884403	8132397	126874119	28	24625											
OR5T2	219464	broad.mit.edu	37	11	55999592	55999592	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr11:55999592G>T	ENST00000313264.4	-	1	1145	c.1070C>A	c.(1069-1071)aCt>aAt	p.T357N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	357						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T357N(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTATTTTTTAGTATGAAAATA	0.328																																																1	Substitution - Missense(1)	ovary(1)	11											13	14	14					11																	55999592		2139	4215	6354	55756168	SO:0001583	missense	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.1070C>A	11.37:g.55999592G>T	ENSP00000323688:p.Thr357Asn		55756168	B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	G	2.772	-0.255558	0.05829	.	.	ENSG00000181718	ENST00000313264	T	0.00664	5.92	3.32	-4.66	0.03329	.	.	.	.	.	T	0.00440	0.0014	N	0.08118	0	0.09310	N	1	B	0.26400	0.148	B	0.17433	0.018	T	0.44050	-0.9353	9	0.30854	T	0.27	.	6.1779	0.20455	0.2693:0.3872:0.3435:0.0	.	357	Q8NGG2	OR5T2_HUMAN	N	357	ENSP00000323688:T357N	ENSP00000323688:T357N	T	-	2	0	OR5T2	55756168	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.916000	0.00696	-1.143000	0.02866	-0.875000	0.02981	ACT		0.328	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		T	55999592	G	T	55999592	3	4	444	1	0	0	0	0	1	0	0	0	11182	1029	36	3	8	3	OR5T2	11	55999592	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	47867195	55999592	79006924	29	24626											
SYT7	9066	broad.mit.edu	37	11	61291333	61291333	+	Silent	SNP	C	C	G			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr11:61291333C>G	ENST00000263846.4	-	7	1200	c.873G>C	c.(871-873)cgG>cgC	p.R291R	SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000540677.1_Silent_p.R366R|SYT7_ENST00000542670.1_Silent_p.R499R|SYT7_ENST00000542836.1_Silent_p.R335R|SYT7_ENST00000535826.1_Silent_p.R410R|SYT7_ENST00000539008.1_Silent_p.R574R	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	291	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.R291R(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTTGAGGTTCCGGGCTTTGA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	11											321	305	310					11																	61291333		2202	4299	6501	61047909	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.873G>C	11.37:g.61291333C>G			61047909	F5GZU9|Q08AH6	Silent	SNP	ENST00000263846.4	37	CCDS31577.1																																																																																				0.612	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		G	61291333	C	G	61291333	2	3	444	1	0	0	0	0	0	0	0	1	15479	842	30	3		3	SYT7	11	61291333	Silent	SNP	C	TCGA-61-1998-01A-01W-0722-08	5291741	61291333	73715183	30	24627											
FADS3	3995	broad.mit.edu	37	11	61643837	61643837	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr11:61643837G>T	ENST00000278829.2	-	9	1226	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	FADS3_ENST00000527697.1_Missense_Mutation_p.S234R|FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000525588.1_Missense_Mutation_p.S330R	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	358					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)	p.S358R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCACCTGAGAGCTGACCCAGT	0.652																																																1	Substitution - Missense(1)	ovary(1)	11											46	41	43					11																	61643837		2202	4299	6501	61400413	SO:0001583	missense	3995				CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.1074C>A	11.37:g.61643837G>T	ENSP00000278829:p.Ser358Arg		61400413	O60426	Missense_Mutation	SNP	ENST00000278829.2	37	CCDS8013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.209|9.209	1.030445|1.030445	0.19512|0.19512	.|.	.|.	ENSG00000221968|ENSG00000221968	ENST00000527379|ENST00000527697;ENST00000278829;ENST00000525588	.|T;T;T	.|0.17213	.|2.29;2.29;2.29	4.65|4.65	3.74|3.74	0.42951|0.42951	.|Fatty acid desaturase, type 1 (1);	.|.	.|.	.|.	.|.	T|T	0.20659|0.20659	0.0497|0.0497	L|L	0.46947|0.46947	1.48|1.48	0.80722|0.80722	D|D	1|1	.|P;B	.|0.35982	.|0.531;0.347	.|P;P	.|0.47941	.|0.562;0.481	T|T	0.05852|0.05852	-1.0860|-1.0860	5|9	.|0.33141	.|T	.|0.24	-4.0E-4|-4.0E-4	4.6867|4.6867	0.12760|0.12760	0.1828:0.0:0.6427:0.1745|0.1828:0.0:0.6427:0.1745	.|.	.|234;358	.|E9PKP8;Q9Y5Q0	.|.;FADS3_HUMAN	D|R	133|234;358;330	.|ENSP00000431533:S234R;ENSP00000278829:S358R;ENSP00000432206:S330R	.|ENSP00000278829:S358R	A|S	-|-	2|3	0|2	FADS3|FADS3	61400413|61400413	0.905000|0.905000	0.30787|0.30787	0.140000|0.140000	0.22221|0.22221	0.009000|0.009000	0.06853|0.06853	1.072000|1.072000	0.30678|0.30678	1.112000|1.112000	0.41740|0.41740	-0.140000|-0.140000	0.14226|0.14226	GCT|AGC		0.652	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			T	61643837	G	T	61643837	3	4	444	1	0	0	0	0	1	0	0	0	5367	962	34	3	279	3	FADS3	11	61643837	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	352504	61643837	73362679	31	24628											
TMPO	7112	broad.mit.edu	37	12	98927521	98927521	+	Intron	SNP	G	G	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr12:98927521G>T	ENST00000556029.1	+	3	921				TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Nonsense_Mutation_p.E496*	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.E496*(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCCTTCCATGAATCTATTTT	0.413																																																2	Substitution - Nonsense(2)	ovary(1)|skin(1)	12											71	69	70					12																	98927521		2203	4300	6503	97451652	SO:0001627	intron_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1905G>T	12.37:g.98927521G>T			97451652	A2T926|Q14861	Nonsense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.545722	0.97654	.	.	ENSG00000120802	ENST00000266732	.	.	.	5.65	4.76	0.60689	.	0.233772	0.37623	N	0.002017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-10.731	10.6226	0.45489	0.0883:0.0:0.9117:0.0	.	.	.	.	X	496	.	ENSP00000266732:E496X	E	+	1	0	TMPO	97451652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.950000	0.49081	1.522000	0.49001	0.650000	0.86243	GAA		0.413	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		T	98927521	G	T	98927521	1	4	444	0	1	0	0	0	0	0	0	0	16237	1291	45	3		3	TMPO	12	98927521	Intron	SNP	G	TCGA-61-1998-01A-01W-0722-08		98927521	34924374	32	24629											
NOS1	4842	broad.mit.edu	37	12	117665296	117665296	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr12:117665296G>T	ENST00000338101.4	-	23	3662	c.3658C>A	c.(3658-3660)Cca>Aca	p.P1220T	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.P1186T			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.P1186T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TACATGTCTGGGGAGGAGCTG	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)											1	Substitution - Missense(1)	ovary(1)	12											70	83	79					12																	117665296		2103	4222	6325	116149679	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3658C>A	12.37:g.117665296G>T	ENSP00000337459:p.Pro1220Thr		116149679		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858795	0.91433	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.68331	-0.32;-0.32	4.95	4.95	0.65309	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90591	0.4537	10	0.72032	D	0.01	-16.6131	18.3687	0.90400	0.0:0.0:1.0:0.0	.	1186	P29475	NOS1_HUMAN	T	1081;1186;1186;1220	ENSP00000320758:P1186T;ENSP00000337459:P1220T	ENSP00000320758:P1186T	P	-	1	0	NOS1	116149679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.733000	0.84916	2.557000	0.86248	0.591000	0.81541	CCA		0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117665296	G	T	117665296	3	4	444	1	0	0	0	0	1	0	0	0	10541	1232	43	3	776	3	NOS1	12	117665296	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	18737775	117665296	16186599	33	24630											
LECT1	11061	broad.mit.edu	37	13	53277821	53277821	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr13:53277821G>C	ENST00000377962.3	-	7	992	c.914C>G	c.(913-915)cCa>cGa	p.P305R	LECT1_ENST00000448904.2_Missense_Mutation_p.P304R			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	305					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.P305R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ATAAGGCCATGGGTAATAGCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	13											72	73	72					13																	53277821		2203	4300	6503	52175822	SO:0001583	missense	11061			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.914C>G	13.37:g.53277821G>C	ENSP00000367198:p.Pro305Arg		52175822	Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214631	0.79352	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.36520	1.26;1.25	5.3	5.3	0.74995	.	0.108387	0.64402	D	0.000007	T	0.63920	0.2552	M	0.78637	2.42	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	T	0.67098	-0.5756	10	0.87932	D	0	.	19.1447	0.93459	0.0:0.0:1.0:0.0	.	304;305	O75829-2;O75829	.;LECT1_HUMAN	R	304;305	ENSP00000388576:P304R;ENSP00000367198:P305R	ENSP00000367198:P305R	P	-	2	0	LECT1	52175822	1.000000	0.71417	0.955000	0.39395	0.993000	0.82548	6.041000	0.70988	2.753000	0.94483	0.585000	0.79938	CCA		0.522	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			C	53277821	G	C	53277821	3	2	444	1	0	0	0	0	1	0	0	0	8712	1348	47	3	94	3	LECT1	13	53277821	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08		53277821	61892057	34	24631											
SLC10A2	6555	broad.mit.edu	37	13	103703609	103703609	+	Nonsense_Mutation	SNP	G	G	C	rs150229163		TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr13:103703609G>C	ENST00000245312.3	-	4	1355	c.759C>G	c.(757-759)taC>taG	p.Y253*		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	253					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.Y253*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TGCCATACCTGTACCAGGGTA	0.428																																																1	Substitution - Nonsense(1)	ovary(1)	13											70	72	71					13																	103703609		2203	4300	6503	102501610	SO:0001587	stop_gained	6555			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.759C>G	13.37:g.103703609G>C	ENSP00000245312:p.Tyr253*		102501610	A1L4F4|Q13839	Nonsense_Mutation	SNP	ENST00000245312.3	37	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	39	7.407071	0.98265	.	.	ENSG00000125255	ENST00000245312	.	.	.	5.46	4.58	0.56647	.	0.574580	0.19974	N	0.101912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.0415	16.3048	0.82843	0.0:0.1319:0.8681:0.0	.	.	.	.	X	253	.	ENSP00000245312:Y253X	Y	-	3	2	SLC10A2	102501610	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	3.578000	0.53892	2.576000	0.86940	0.460000	0.39030	TAC		0.428	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			C	103703609	G	C	103703609	4	2	444	1	0	0	0	0	0	1	0	0	14377	1372	48	3	299	3	SLC10A2	13	103703609	Nonsense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	50425788	103703609	11466269	35	24632											
GMPR2	51292	broad.mit.edu	37	14	24706359	24706359	+	Splice_Site	SNP	G	G	C			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr14:24706359G>C	ENST00000355299.4	+	6	1008		c.e6+1		GMPR2_ENST00000559836.1_Splice_Site|GMPR2_ENST00000560517.1_Splice_Site|GMPR2_ENST00000399440.2_Splice_Site|GMPR2_ENST00000559104.1_Splice_Site|GMPR2_ENST00000420554.2_Splice_Site|GMPR2_ENST00000559910.1_Splice_Site|GMPR2_ENST00000557854.1_Splice_Site|GMPR2_ENST00000348719.7_Splice_Site|GMPR2_ENST00000456667.3_Splice_Site	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2						GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.?(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ATTGGGCCAGGTAAGCTGGTT	0.512																																																1	Unknown(1)	ovary(1)	14											115	117	116					14																	24706359		1995	4196	6191	23776199	SO:0001630	splice_region_variant	51292				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.547+1G>C	14.37:g.24706359G>C			23776199	D3DS66|Q567T0|Q6IAJ8|Q86T14	Splice_Site	SNP	ENST00000355299.4	37	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310005	0.81247	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0474	0.89337	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMPR2	23776199	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.188000	0.94921	2.793000	0.96121	0.563000	0.77884	.		0.512	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	Intron	C	24706359	G	C	24706359	5	2	444	1	0	0	0	0	0	0	1	0	6497	1275	44	3	620	3	GMPR2	14	24706359	Splice_Site	SNP	G	TCGA-61-1998-01A-01W-0722-08		24706359	82643181	36	24633											
L2HGDH	79944	broad.mit.edu	37	14	50769692	50769692	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr14:50769692C>G	ENST00000267436.4	-	2	581	c.184G>C	c.(184-186)Gcc>Ccc	p.A62P	L2HGDH_ENST00000421284.3_Missense_Mutation_p.A62P|L2HGDH_ENST00000555423.1_Missense_Mutation_p.A62P|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555610.1_Missense_Mutation_p.A62P|L2HGDH_ENST00000261699.4_Missense_Mutation_p.A62P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	62					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)	p.A62P(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CTGGCAGAGGCAAGCCCCACA	0.393																																																1	Substitution - Missense(1)	ovary(1)	14											123	123	123					14																	50769692		2203	4300	6503	49839442	SO:0001583	missense	79944				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.184G>C	14.37:g.50769692C>G	ENSP00000267436:p.Ala62Pro		49839442	Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430251	0.96131	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000557131;ENST00000555423;ENST00000555610	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.35	5.35	0.76521	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.992	D	0.96243	0.9177	10	0.87932	D	0	-17.2031	19.9585	0.97232	0.0:1.0:0.0:0.0	.	62;62	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	P	62	ENSP00000261699:A62P;ENSP00000267436:A62P;ENSP00000405559:A62P;ENSP00000450494:A62P;ENSP00000452483:A62P	ENSP00000261699:A62P	A	-	1	0	L2HGDH	49839442	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.365000	0.79537	2.894000	0.99253	0.655000	0.94253	GCC		0.393	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		G	50769692	C	G	50769692	3	3	444	1	0	0	0	0	1	0	0	0	8590	710	25	3	1243	3	L2HGDH	14	50769692	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	26063333	50769692	56579848	37	24634											
POMT2	29954	broad.mit.edu	37	14	77762597	77762597	+	Silent	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr14:77762597C>A	ENST00000261534.4	-	9	1228	c.1026G>T	c.(1024-1026)gtG>gtT	p.V342V		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	342	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)	p.V342V(1)		breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCACAGTGATCACAGAGCCGT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	14											75	55	62					14																	77762597		2203	4300	6503	76832350	SO:0001819	synonymous_variant	29954			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1026G>T	14.37:g.77762597C>A			76832350	Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	CCDS9857.1																																																																																				0.637	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		A	77762597	C	A	77762597	2	1	444	1	0	0	0	0	0	0	0	1	12246	813	29	3		3	POMT2	14	77762597	Silent	SNP	C	TCGA-61-1998-01A-01W-0722-08	26992905	77762597	29586943	38	24635											
TTC7B	145567	broad.mit.edu	37	14	91084326	91084326	+	Silent	SNP	A	A	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr14:91084326A>T	ENST00000328459.6	-	16	1936	c.1815T>A	c.(1813-1815)acT>acA	p.T605T	TTC7B_ENST00000357056.2_Silent_p.T605T|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	605								p.T605T(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TGTGCTTACAAGTCAGCAGTG	0.552																																																1	Substitution - coding silent(1)	ovary(1)	14											131	123	125					14																	91084326		2203	4300	6503	90154079	SO:0001819	synonymous_variant	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1815T>A	14.37:g.91084326A>T			90154079	Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	CCDS32140.1																																																																																				0.552	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			T	91084326	A	T	91084326	2	4	444	1	0	0	0	0	0	0	0	1	16713	59	3	5		5	TTC7B	14	91084326	Silent	SNP	A	TCGA-61-1998-01A-01W-0722-08	13321729	91084326	16265214	39	24636											
SERPINA4	5267	broad.mit.edu	37	14	95030122	95030122	+	Silent	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr14:95030122C>A	ENST00000557004.1	+	2	724	c.303C>A	c.(301-303)atC>atA	p.I101I	SERPINA4_ENST00000555095.1_Silent_p.I101I|SERPINA4_ENST00000298841.5_Silent_p.I101I|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	101					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I101I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCAGCCAGATCCTTGAGGGCC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	14											41	43	42					14																	95030122		2203	4300	6503	94099875	SO:0001819	synonymous_variant	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.303C>A	14.37:g.95030122C>A			94099875	Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	CCDS9927.1																																																																																				0.637	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		A	95030122	C	A	95030122	2	1	444	1	0	0	0	0	0	0	0	1	14094	845	30	3		3	SERPINA4	14	95030122	Silent	SNP	C	TCGA-61-1998-01A-01W-0722-08	3945796	95030122	12319418	40	24637											
C15orf2	23742	broad.mit.edu	37	15	24921335	24921335	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr15:24921335G>T	ENST00000329468.2	+	1	795	c.321G>T	c.(319-321)agG>agT	p.R107S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	107					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R107S(1)									ACCCCCCGAGGTTTGGACACC	0.677																																																1	Substitution - Missense(1)	ovary(1)	15											46	38	41					15																	24921335		2199	4293	6492	22472428	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.321G>T	15.37:g.24921335G>T	ENSP00000333735:p.Arg107Ser		22472428		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	2.239	-0.374263	0.05034	.	.	ENSG00000185823	ENST00000329468	T	0.06218	3.33	2.45	0.414	0.16406	.	3.487680	0.01209	N	0.007796	T	0.06872	0.0175	N	0.22421	0.69	0.09310	N	1	P	0.47253	0.892	P	0.47251	0.542	T	0.19516	-1.0303	10	0.27785	T	0.31	.	3.5165	0.07727	0.1633:0.2682:0.5684:0.0	.	107	Q9NZP6	CO002_HUMAN	S	107	ENSP00000333735:R107S	ENSP00000333735:R107S	R	+	3	2	C15orf2	22472428	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.109000	0.10840	0.121000	0.18284	0.484000	0.47621	AGG		0.677	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		T	24921335	G	T	24921335	3	4	444	1	0	0	0	0	1	0	0	0	1784	1252	44	3	323	3	C15orf2	15	24921335	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08		24921335	77610057	41	24638											
RYR3	6263	broad.mit.edu	37	15	33895399	33895399	+	Silent	SNP	C	C	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr15:33895399C>T	ENST00000389232.4	+	18	2068	c.1998C>T	c.(1996-1998)atC>atT	p.I666I	RYR3_ENST00000415757.3_Silent_p.I666I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	666	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.I666I(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCTGATTATCGACCAGGTGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	15											135	141	139					15																	33895399		2004	4170	6174	31682691	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1998C>T	15.37:g.33895399C>T			31682691	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33895399	C	T	33895399	2	4	444	1	0	0	0	0	0	0	0	1	13773	874	31	1		1	RYR3	15	33895399	Silent	SNP	C	TCGA-61-1998-01A-01W-0722-08	8974064	33895399	68635993	42	24639											
HEXA	3073	broad.mit.edu	37	15	72643496	72643496	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr15:72643496G>C	ENST00000268097.5	-	6	1153	c.650C>G	c.(649-651)aCt>aGt	p.T217S	HEXA_ENST00000567159.1_Missense_Mutation_p.T217S|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.T228S|HEXA_ENST00000457859.2_Missense_Mutation_p.T25S|HEXA_ENST00000429918.2_Missense_Mutation_p.T44S	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	217					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.T217S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CTCTGGAAAAGTGAAGCTCTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	15											162	130	141					15																	72643496		2199	4297	6496	70430550	SO:0001583	missense	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.650C>G	15.37:g.72643496G>C	ENSP00000268097:p.Thr217Ser		70430550	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604435	0.66445	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.95272	-3.66;-3.66;-3.66	5.78	4.83	0.62350	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.111773	0.64402	D	0.000014	D	0.89876	0.6842	N	0.21617	0.685	0.46044	D	0.998835	B;B;B;B;B	0.11235	0.0;0.004;0.0;0.0;0.001	B;B;B;B;B	0.25614	0.004;0.062;0.004;0.004;0.01	D	0.84979	0.0887	10	0.21540	T	0.41	-15.6742	16.2242	0.82283	0.0:0.0:0.8665:0.1335	.	44;228;44;97;217	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	S	217;25;44	ENSP00000268097:T217S;ENSP00000398026:T25S;ENSP00000416187:T44S	ENSP00000268097:T217S	T	-	2	0	HEXA	70430550	1.000000	0.71417	0.916000	0.36221	0.999000	0.98932	5.560000	0.67332	2.706000	0.92434	0.655000	0.94253	ACT		0.468	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		C	72643496	G	C	72643496	3	2	444	1	0	0	0	0	1	0	0	0	7073	1029	36	3	975	3	HEXA	15	72643496	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	38748097	72643496	29887896	43	24640											
CNTNAP4	85445	broad.mit.edu	37	16	76486529	76486529	+	Missense_Mutation	SNP	G	G	A	rs570306162		TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr16:76486529G>A	ENST00000476707.1	+	7	1344	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.R398Q|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R326Q|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R350Q			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	399	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.R374Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTCAATTTCGAACTTGGAAT	0.463													G|||	1	0.000199681	0	0	5008	,	,		16483	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	16											99	98	99					16																	76486529		2198	4300	6498	75044030	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1205G>A	16.37:g.76486529G>A	ENSP00000417628:p.Arg402Gln		75044030	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.397475	0.96009	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.34435	N	0.003965	D	0.91788	0.7402	.	.	.	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.998;1.0;0.996	D;D;D;D	0.78314	0.988;0.949;0.991;0.957	D	0.92081	0.5672	9	0.87932	D	0	.	19.6434	0.95767	0.0:0.0:1.0:0.0	.	326;402;374;399	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	Q	398;350;326;402	ENSP00000306893:R398Q;ENSP00000439733:R350Q;ENSP00000418741:R326Q;ENSP00000417628:R402Q	ENSP00000306893:R398Q	R	+	2	0	CNTNAP4	75044030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.240000	0.95396	2.880000	0.98712	0.655000	0.94253	CGA		0.463	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		A	76486529	G	A	76486529	3	1	444	1	0	0	0	0	1	0	0	0	3649	1058	37	1	1239	1	CNTNAP4	16	76486529	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08		76486529	13868224	44	24641											
TP53	7157	broad.mit.edu	37	17	7578204	7578204	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr17:7578204A>C	ENST00000269305.4	-	6	834	c.645T>G	c.(643-645)agT>agG	p.S215R	TP53_ENST00000445888.2_Missense_Mutation_p.S215R|TP53_ENST00000420246.2_Missense_Mutation_p.S215R|TP53_ENST00000455263.2_Missense_Mutation_p.S215R|TP53_ENST00000413465.2_Missense_Mutation_p.S215R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.S215R	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	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S215R(17)|p.0?(8)|p.?(5)|p.S215S(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)|p.V216fs*6(1)|p.T211_S215delTFRHS(1)|p.S83R(1)|p.D208fs*1(1)|p.S215fs*32(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)|p.S122R(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)	GCACCACCACACTATGTCGAA	0.532		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"	53	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(3)|Substitution - coding silent(2)|Insertion - In frame(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(9)|biliary_tract(5)|large_intestine(5)|bone(5)|breast(5)|stomach(4)|oesophagus(4)|ovary(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(2)|skin(2)|lung(2)|liver(1)|prostate(1)	17	GRCh37	CD941799	TP53	D							124	111	116					17																	7578204		2203	4300	6503	7518929	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.645T>G	17.37:g.7578204A>C	ENSP00000269305:p.Ser215Arg		7518929	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	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954051	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2	5.28	-4.05	0.03998	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	0.99806	0.9916	M	0.90705	3.14	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98563	1.0642	10	0.87932	D	0	-18.3023	12.3136	0.54942	0.7185:0.0:0.2815:0.0	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215R;ENSP00000352610:S215R;ENSP00000269305:S215R;ENSP00000398846:S215R;ENSP00000391127:S215R;ENSP00000391478:S215R;ENSP00000425104:S83R;ENSP00000423862:S122R	ENSP00000269305:S215R	S	-	3	2	TP53	7518929	0.000000	0.05858	0.557000	0.28306	0.964000	0.63967	-1.515000	0.02252	-0.649000	0.05430	-0.468000	0.05107	AGT		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578204	A	C	7578204	3	2	444	1	0	0	0	0	1	0	0	0	16381	156	6	5	649	5	TP53	17	7578204	Missense_Mutation	SNP	A	TCGA-61-1998-01A-01W-0722-08		7578204	73617006	45	24642											
SGK494	9703	broad.mit.edu	37	17	26940298	26940298	+	IGR	SNP	T	T	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr17:26940298T>A	ENST00000528896.2	-	0	7407				SGK494_ENST00000469832.3_5'UTR|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.K130N|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.K130N|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)		p.K169N(1)|p.K130N(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAAATACAGCTTTCTGGGTGC	0.463											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	ovary(2)	17											92	85	87					17																	26940298		2203	4300	6503	23964425	SO:0001628	intergenic_variant	124923			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940298T>A		790	23964425	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	4.640	0.118943	0.08881	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	4.98	-3.57	0.04612	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.449356	0.25332	N	0.031427	T	0.03053	0.0090	N	0.13327	0.33	0.20764	N	0.99985	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.004	T	0.30001	-0.9993	10	0.39692	T	0.17	0.0955	0.4335	0.00475	0.3731:0.2088:0.1261:0.292	.	130;130	E9PMD0;Q96LW2	.;SG494_HUMAN	N	130	ENSP00000431165:K130N;ENSP00000436369:K130N;ENSP00000301037:K130N;ENSP00000437573:K130N;ENSP00000434603:K130N	ENSP00000301037:K130N	K	-	3	2	AC005726.6;RP11-192H23.4	23964425	0.226000	0.23696	0.670000	0.29842	0.375000	0.29983	-0.080000	0.11339	-0.643000	0.05473	-0.378000	0.06908	AAA		0.463	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		A	26940298	T	A	26940298	1	1	444	0	1	0	0	0	0	0	0	0	14216	1606	56	5		5	SGK494	17	26940298	IGR	SNP	T	TCGA-61-1998-01A-01W-0722-08	19362094	26940298	54254912	46	24643											
EPN3	55040	broad.mit.edu	37	17	48618164	48618164	+	Silent	SNP	G	G	A	rs372785882		TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr17:48618164G>A	ENST00000268933.3	+	7	1569	c.990G>A	c.(988-990)ccG>ccA	p.P330P	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.P358P|EPN3_ENST00000541226.1_Missense_Mutation_p.R218Q	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	330	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)	p.P330P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTTTTAGGCCGAACACAGAGG	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		17531	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	17						G		1,4405	2.1+/-5.4	0,1,2202	57	57	57		990	-9.4	0.1	17		57	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	EPN3	NM_017957.2		0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461		330/633	48618164	6,13000	2203	4300	6503	45973163	SO:0001819	synonymous_variant	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.990G>A	17.37:g.48618164G>A			45973163	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793303	0.31685	2.27E-4	5.81E-4	ENSG00000049283	ENST00000541226	T	0.42513	0.97	5.23	-9.35	0.00633	.	.	.	.	.	T	0.16471	0.0396	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15723	-1.0427	6	0.17369	T	0.5	-4.0579	3.5155	0.07723	0.1656:0.3825:0.3562:0.0957	.	.	.	.	Q	218	ENSP00000440540:R218Q	ENSP00000440540:R218Q	R	+	2	0	EPN3	45973163	0.000000	0.05858	0.063000	0.19743	0.909000	0.53808	-1.911000	0.01583	-1.351000	0.02197	-0.377000	0.06932	CGA		0.617	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48618164	G	A	48618164	2	1	444	1	0	0	0	0	0	0	0	1	5187	1045	37	1		1	EPN3	17	48618164	Silent	SNP	G	TCGA-61-1998-01A-01W-0722-08	21677866	48618164	32577046	47	24644											
HEATR6	63897	broad.mit.edu	37	17	58149580	58149580	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr17:58149580C>A	ENST00000184956.6	-	5	711	c.695G>T	c.(694-696)tGc>tTc	p.C232F	HEATR6_ENST00000585976.1_Missense_Mutation_p.C232F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	232							poly(A) RNA binding (GO:0044822)	p.C232F(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACTTACCATGCAAAATGTGAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	17											79	70	73					17																	58149580		2203	4300	6503	55504362	SO:0001583	missense	63897			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.695G>T	17.37:g.58149580C>A	ENSP00000184956:p.Cys232Phe		55504362	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303291	0.81136	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.45276	0.9	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	T	0.61063	-0.7138	10	0.37606	T	0.19	-12.5743	18.6504	0.91429	0.0:1.0:0.0:0.0	.	79;232	E7ESB9;Q6AI08	.;HEAT6_HUMAN	F	232;79	ENSP00000184956:C232F	ENSP00000184956:C232F	C	-	2	0	HEATR6	55504362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.234000	0.72326	2.820000	0.97059	0.650000	0.86243	TGC		0.388	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		A	58149580	C	A	58149580	3	1	444	1	0	0	0	0	1	0	0	0	7033	710	25	3	2914	3	HEATR6	17	58149580	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	9531416	58149580	23045630	48	24645											
SAP30BP	29115	broad.mit.edu	37	17	73698616	73698616	+	Silent	SNP	C	C	T	rs558970179		TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr17:73698616C>T	ENST00000584667.1	+	6	710	c.453C>T	c.(451-453)taC>taT	p.Y151Y	SAP30BP_ENST00000355423.3_Silent_p.Y135Y|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1			SAP30 binding protein									p.Y151Y(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATATGAACTACATTATCCAAA	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		20861	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	17											78	79	78					17																	73698616		2203	4300	6503	71210211	SO:0001819	synonymous_variant	29115			AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.453C>T	17.37:g.73698616C>T			71210211		Silent	SNP	ENST00000584667.1	37	CCDS11726.1																																																																																				0.438	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		T	73698616	C	T	73698616	2	4	444	1	0	0	0	0	0	0	0	1	13837	489	17	2		2	SAP30BP	17	73698616	Silent	SNP	C	TCGA-61-1998-01A-01W-0722-08	15549036	73698616	7496594	49	24646											
KIAA1632	57724	broad.mit.edu	37	18	43438530	43438530	+	Splice_Site	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr18:43438530C>A	ENST00000282041.5	-	41	7261		c.e41+1		EPG5_ENST00000585906.1_Splice_Site	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)						autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.?(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGCCAACGTACCTTGGGTACA	0.423																																																1	Unknown(1)	ovary(1)	18											48	44	46					18																	43438530		1908	4131	6039	41692528	SO:0001630	splice_region_variant	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7226+1G>T	18.37:g.43438530C>A			41692528	A2BDF3|Q9H8C8	Splice_Site	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868489	0.72065	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPG5	41692528	1.000000	0.71417	0.971000	0.41717	0.539000	0.34962	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	.		0.423	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	Intron	A	43438530	C	A	43438530	5	1	444	1	0	0	0	0	0	0	1	0	8249	521	18	3	528	3	KIAA1632	18	43438530	Splice_Site	SNP	C	TCGA-61-1998-01A-01W-0722-08		43438530	34638718	50	24647											
TRIP10	9322	broad.mit.edu	37	19	6744700	6744700	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr19:6744700G>A	ENST00000313244.9	+	8	813	c.778G>A	c.(778-780)Gat>Aat	p.D260N	TRIP10_ENST00000596758.1_Missense_Mutation_p.D260N|TRIP10_ENST00000600428.1_Missense_Mutation_p.D152N|TRIP10_ENST00000313285.8_Missense_Mutation_p.D260N			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	260	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.D260N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAATGCTGTGGATCCCAAGAA	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											127	115	119					19																	6744700		2203	4300	6503	6695700	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.778G>A	19.37:g.6744700G>A	ENSP00000320117:p.Asp260Asn		6695700	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37		.	.	.	.	.	.	.	.	.	.	G	12.55	1.972526	0.34848	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.52057	0.68;2.32	4.97	1.66	0.24008	.	0.216607	0.46758	N	0.000278	T	0.37625	0.1010	N	0.10874	0.06	0.35555	D	0.804224	B;D;B	0.58970	0.409;0.984;0.004	B;P;B	0.60473	0.173;0.875;0.003	T	0.38373	-0.9664	10	0.18710	T	0.47	-12.9655	7.4353	0.27152	0.2721:0.0:0.7279:0.0	.	260;260;260	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	N	260	ENSP00000320493:D260N;ENSP00000320117:D260N	ENSP00000320117:D260N	D	+	1	0	TRIP10	6695700	1.000000	0.71417	0.984000	0.44739	0.864000	0.49448	2.045000	0.41250	0.233000	0.21120	0.462000	0.41574	GAT		0.622	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			A	6744700	G	A	6744700	3	1	444	1	0	0	0	0	1	0	0	0	16554	1174	41	2	808	2	TRIP10	19	6744700	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08		6744700	52384283	51	24648											
ZNF791	163049	broad.mit.edu	37	19	12738844	12738844	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr19:12738844A>C	ENST00000343325.4	+	4	663	c.501A>C	c.(499-501)aaA>aaC	p.K167N	ZNF791_ENST00000540038.1_Missense_Mutation_p.K58N|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000458122.3_Missense_Mutation_p.K135N	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K167N(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AATGTGGAAAAACCTTCATAT	0.383																																																1	Substitution - Missense(1)	ovary(1)	19											60	60	60					19																	12738844		2203	4300	6503	12599844	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.501A>C	19.37:g.12738844A>C	ENSP00000342974:p.Lys167Asn		12599844	B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911369	0.52439	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.07908	3.15;3.15;3.15	1.83	0.769	0.18492	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29716	0.0742	M	0.91406	3.205	0.30052	N	0.811646	D	0.89917	1.0	D	0.87578	0.998	T	0.12016	-1.0564	9	0.87932	D	0	.	4.7119	0.12877	0.8022:0.0:0.1978:0.0	.	167	Q3KP31	ZN791_HUMAN	N	167;149;135;58	ENSP00000342974:K167N;ENSP00000441761:K135N;ENSP00000441038:K58N	ENSP00000342974:K167N	K	+	3	2	ZNF791	12599844	0.278000	0.24230	0.928000	0.36995	0.987000	0.75469	0.598000	0.24074	0.834000	0.34852	0.402000	0.26972	AAA		0.383	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		C	12738844	A	C	12738844	3	2	444	1	0	0	0	0	1	0	0	0	18163	11	1	5	515	5	ZNF791	19	12738844	Missense_Mutation	SNP	A	TCGA-61-1998-01A-01W-0722-08	5994144	12738844	46390139	52	24649											
LGALS13	29124	broad.mit.edu	37	19	40095962	40095962	+	Silent	SNP	C	C	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr19:40095962C>T	ENST00000221797.4	+	3	282	c.237C>T	c.(235-237)gaC>gaT	p.D79D		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	79	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.D79D(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			AGACAACAGACTACGTGCCCT	0.493																																																1	Substitution - coding silent(1)	ovary(1)	19											234	173	194					19																	40095962		2203	4300	6503	44787802	SO:0001819	synonymous_variant	29124			AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"Lectins, galactoside-binding"	15449	protein-coding gene	gene with protein product	"galectin 13"	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.237C>T	19.37:g.40095962C>T			44787802	C5HZ15	Silent	SNP	ENST00000221797.4	37	CCDS33024.1																																																																																				0.493	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		T	40095962	C	T	40095962	2	4	444	1	0	0	0	0	0	0	0	1	8740	564	20	2		2	LGALS13	19	40095962	Silent	SNP	C	TCGA-61-1998-01A-01W-0722-08	27357118	40095962	19033021	53	24650											
CYP2A13	1553	broad.mit.edu	37	19	41594390	41594390	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr19:41594390G>A	ENST00000330436.3	+	1	14	c.14G>A	c.(13-15)gGg>gAg	p.G5E		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	5					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G5E(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTGGCCTCAGGGCTGCTTCTG	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											64	53	56					19																	41594390		2203	4300	6503	46286230	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.14G>A	19.37:g.41594390G>A	ENSP00000332679:p.Gly5Glu		46286230	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455093	0.43634	.	.	ENSG00000197838	ENST00000330436	T	0.68479	-0.33	3.3	3.3	0.37823	.	0.285165	0.29438	U	0.012142	T	0.74496	0.3724	M	0.68952	2.095	0.29049	N	0.884647	D	0.69078	0.997	P	0.59115	0.852	T	0.69771	-0.5055	10	0.41790	T	0.15	.	12.5425	0.56179	0.0:0.0:1.0:0.0	.	5	Q16696	CP2AD_HUMAN	E	5	ENSP00000332679:G5E	ENSP00000332679:G5E	G	+	2	0	CYP2A13	46286230	0.989000	0.36119	0.988000	0.46212	0.964000	0.63967	2.218000	0.42889	1.860000	0.53959	0.430000	0.28490	GGG		0.562	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		A	41594390	G	A	41594390	3	1	444	1	0	0	0	0	1	0	0	0	4161	1232	43	2	16	2	CYP2A13	19	41594390	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	1498428	41594390	17534593	54	24651											
KLK2	3817	broad.mit.edu	37	19	51381738	51381738	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr19:51381738C>T	ENST00000325321.3	+	5	934	c.709C>T	c.(709-711)Cct>Tct	p.P237S	KLK2_ENST00000358049.4_3'UTR|KLK2_ENST00000391810.2_Missense_Mutation_p.P135S			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	237	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.P237S(1)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		ATGTGCCCTGCCTGAAAAGCC	0.562			T	ETV4	prostate																																		Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	1	Substitution - Missense(1)	ovary(1)	19											203	193	196					19																	51381738		2203	4300	6503	56073550	SO:0001583	missense	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.709C>T	19.37:g.51381738C>T	ENSP00000313581:p.Pro237Ser		56073550	B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204203	0.38905	.	.	ENSG00000167751	ENST00000325321;ENST00000391810	D;D	0.88896	-2.44;-2.44	3.54	0.966	0.19667	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.676716	0.12259	N	0.484887	D	0.88603	0.6481	L	0.41124	1.26	0.09310	N	1	D;D	0.69078	0.997;0.963	P;P	0.60541	0.876;0.701	T	0.77897	-0.2416	10	0.59425	D	0.04	.	6.3015	0.21115	0.1954:0.4213:0.3833:0.0	.	220;237	B4DU77;P20151	.;KLK2_HUMAN	S	237;135	ENSP00000313581:P237S;ENSP00000375686:P135S	ENSP00000313581:P237S	P	+	1	0	KLK2	56073550	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.385000	0.07379	0.544000	0.28883	0.563000	0.77884	CCT		0.562	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		T	51381738	C	T	51381738	3	4	444	1	0	0	0	0	1	0	0	0	8404	739	26	2	764	2	KLK2	19	51381738	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	9787348	51381738	7747245	55	24652											
PEG3	5178	broad.mit.edu	37	19	57326014	57326014	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr19:57326014C>A	ENST00000326441.9	-	10	4159	c.3796G>T	c.(3796-3798)Ggc>Tgc	p.G1266C	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1142C|PEG3_ENST00000593695.1_Missense_Mutation_p.G1140C|PEG3_ENST00000423103.2_Missense_Mutation_p.G1266C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1266					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G1266C(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGCTAAGCCTGGAATGATA	0.468																																																1	Substitution - Missense(1)	ovary(1)	19											62	52	55					19																	57326014		2203	4300	6503	62017826	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3796G>T	19.37:g.57326014C>A	ENSP00000326581:p.Gly1266Cys		62017826	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406964	0.42715	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02787	4.16;4.16	4.11	1.98	0.26296	.	0.133319	0.35067	N	0.003467	T	0.05731	0.0150	L	0.27053	0.805	.	.	.	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.77557	0.808;0.987;0.99	T	0.26985	-1.0087	9	0.51188	T	0.08	-14.2392	5.9521	0.19253	0.0:0.6799:0.0:0.3201	.	1142;1266;1201	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	C	1266	ENSP00000326581:G1266C;ENSP00000403051:G1266C	ENSP00000326581:G1266C	G	-	1	0	ZIM2	62017826	0.000000	0.05858	0.019000	0.16419	0.995000	0.86356	-0.062000	0.11674	0.686000	0.31488	0.655000	0.94253	GGC		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			A	57326014	C	A	57326014	3	1	444	1	0	0	0	0	1	0	0	0	11720	681	24	3	974	3	PEG3	19	57326014	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08	5944276	57326014	1802969	56	24653											
DUXA	503835	broad.mit.edu	37	19	57670639	57670639	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr19:57670639A>C	ENST00000554048.2	-	3	187	c.188T>G	c.(187-189)tTt>tGt	p.F63C		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	63					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F63C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TCGATTCTGAAACCAAATCTA	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											72	67	69					19																	57670639		2203	4300	6503	62362451	SO:0001583	missense	503835				CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"Homeoboxes / PRD class"	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.188T>G	19.37:g.57670639A>C	ENSP00000452398:p.Phe63Cys		62362451		Missense_Mutation	SNP	ENST00000554048.2	37	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229214	0.39399	.	.	ENSG00000258873	ENST00000554048	D	0.99748	-6.62	2.54	2.54	0.30619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.34268	N	0.004102	D	0.99736	0.9896	H	0.97315	3.98	0.34594	D	0.715779	D	0.76494	0.999	D	0.70487	0.969	D	0.97311	0.9937	10	0.87932	D	0	-14.1296	7.0071	0.24842	1.0:0.0:0.0:0.0	.	63	A6NLW8	DUXA_HUMAN	C	63	ENSP00000452398:F63C	ENSP00000365415:F63C	F	-	2	0	DUXA	62362451	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	2.087000	0.41653	1.424000	0.47217	0.459000	0.35465	TTT		0.438	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		C	57670639	A	C	57670639	3	2	444	1	0	0	0	0	1	0	0	0	4834	14	1	5	442	5	DUXA	19	57670639	Missense_Mutation	SNP	A	TCGA-61-1998-01A-01W-0722-08	344625	57670639	1458344	57	24654											
ZNF551	90233	broad.mit.edu	37	19	58199588	58199588	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr19:58199588G>T	ENST00000282296.5	+	3	2130	c.1945G>T	c.(1945-1947)Ggg>Tgg	p.G649W	ZNF551_ENST00000356715.4_Missense_Mutation_p.G633W|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G633W(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGTGAATGTGGGAAATCCTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	19											97	96	97					19																	58199588		2203	4300	6503	62891400	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1945G>T	19.37:g.58199588G>T	ENSP00000282296:p.Gly649Trp		62891400	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562743	0.65538	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.79	0.564	0.17302	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75199	0.3817	M	0.94101	3.495	0.25453	N	0.987988	D	0.89917	1.0	D	0.97110	1.0	T	0.62412	-0.6860	8	0.72032	D	0.01	.	7.4611	0.27296	0.2324:0.0:0.7676:0.0	.	649	Q7Z340	ZN551_HUMAN	W	649;633	.	ENSP00000282296:G633W	G	+	1	0	ZNF551	62891400	0.772000	0.28567	0.000000	0.03702	0.944000	0.59088	1.368000	0.34216	0.082000	0.17018	-0.258000	0.10820	GGG		0.428	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		T	58199588	G	T	58199588	3	4	444	1	0	0	0	0	1	0	0	0	17983	1348	47	3	1907	3	ZNF551	19	58199588	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	528949	58199588	929395	58	24655											
MX1	4599	broad.mit.edu	37	21	42830551	42830551	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr21:42830551C>A	ENST00000398600.2	+	19	2880	c.1855C>A	c.(1855-1857)Ctc>Atc	p.L619I	MX1_ENST00000288383.6_Missense_Mutation_p.L596I|MX1_ENST00000398598.3_Missense_Mutation_p.L619I|MX1_ENST00000455164.2_Missense_Mutation_p.L619I	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	619	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L619I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CATGCTGCAGCTCCTGCAGGA	0.602																																																1	Substitution - Missense(1)	ovary(1)	21											128	122	124					21																	42830551		2203	4300	6503	41752421	SO:0001583	missense	4599				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1855C>A	21.37:g.42830551C>A	ENSP00000381601:p.Leu619Ile		41752421	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922765	0.73213	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.7	4.7	0.59300	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.074107	0.64402	D	0.000020	T	0.59783	0.2219	M	0.69823	2.125	0.45502	D	0.99846	P	0.41848	0.763	P	0.46850	0.529	T	0.62590	-0.6822	10	0.48119	T	0.1	-29.2525	13.8894	0.63729	0.0:1.0:0.0:0.0	.	619	P20591	MX1_HUMAN	I	619;619;619;596	ENSP00000381601:L619I;ENSP00000381599:L619I;ENSP00000410523:L619I;ENSP00000288383:L596I	ENSP00000288383:L596I	L	+	1	0	MX1	41752421	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.846000	0.39289	2.547000	0.85894	0.655000	0.94253	CTC		0.602	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			A	42830551	C	A	42830551	3	1	444	1	0	0	0	0	1	0	0	0	9997	797	28	3	1905	3	MX1	21	42830551	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08		42830551	5299344	59	24656											
CYTSA	23384	broad.mit.edu	37	22	24718635	24718635	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chr22:24718635G>C	ENST00000314328.9	+	5	1972	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	SPECC1L_ENST00000541492.1_Missense_Mutation_p.E563Q|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.E563Q|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.E563Q	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	563					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.E563Q(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGCCACGTTAGAGGAATACAA	0.473																																																1	Substitution - Missense(1)	ovary(1)	22											58	57	57					22																	24718635		2203	4300	6503	23048635	SO:0001583	missense	23384			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1687G>C	22.37:g.24718635G>C	ENSP00000325785:p.Glu563Gln		23048635	B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873066	0.72180	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.62364	0.03;2.5;0.03;3.01	5.5	5.5	0.81552	.	0.208574	0.49305	D	0.000149	T	0.77157	0.4089	M	0.71036	2.16	0.58432	D	0.999998	D;B	0.63046	0.992;0.319	P;B	0.61397	0.888;0.127	T	0.78804	-0.2060	10	0.62326	D	0.03	-28.6628	18.3864	0.90468	0.0:0.0:1.0:0.0	.	563;563	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	Q	591;563;563;563;563	ENSP00000393363:E563Q;ENSP00000405671:E563Q;ENSP00000325785:E563Q;ENSP00000439633:E563Q	ENSP00000325785:E563Q	E	+	1	0	SPECC1L	23048635	1.000000	0.71417	0.949000	0.38748	0.789000	0.44602	6.357000	0.73051	2.597000	0.87782	0.655000	0.94253	GAG		0.473	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		C	24718635	G	C	24718635	3	2	444	1	0	0	0	0	1	0	0	0	4209	943	33	3	1697	3	CYTSA	22	24718635	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08		24718635	26585931	60	24657											
SYP	6855	broad.mit.edu	37	X	49049789	49049789	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chrX:49049789C>G	ENST00000263233.4	-	5	627	c.555G>C	c.(553-555)caG>caC	p.Q185H	SYP_ENST00000538567.1_Missense_Mutation_p.Q67H|SYP_ENST00000479808.1_Missense_Mutation_p.Q185H	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	185	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)	p.Q185H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TGTTCCCTGTCTGGCGGCAGA	0.572																																																2	Substitution - Missense(2)	ovary(2)	X											103	71	82					X																	49049789		2203	4300	6503	48936733	SO:0001583	missense	6855			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.555G>C	X.37:g.49049789C>G	ENSP00000263233:p.Gln185His		48936733	B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	CCDS14321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.95|13.95	2.390554|2.390554	0.42410|0.42410	.|.	.|.	ENSG00000102003|ENSG00000102003	ENST00000263233;ENST00000538567;ENST00000479808|ENST00000472598	T;T;T|.	0.70399|.	-0.48;-0.48;-0.48|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Marvel (1);MARVEL-like domain (1);|.	0.278172|.	0.36665|.	N|.	0.002478|.	T|T	0.37404|0.37404	0.1002|0.1002	L|L	0.33245|0.33245	0.995|0.995	0.09310|0.09310	N|N	0.999995|0.999995	P|.	0.52692|.	0.955|.	P|.	0.49561|.	0.615|.	T|T	0.23261|0.23261	-1.0193|-1.0193	10|5	0.46703|.	T|.	0.11|.	-4.3796|-4.3796	10.3917|10.3917	0.44175|0.44175	0.0:0.905:0.0:0.095|0.0:0.905:0.0:0.095	.|.	185|.	P08247|.	SYPH_HUMAN|.	H|T	185;67;185|75	ENSP00000263233:Q185H;ENSP00000437456:Q67H;ENSP00000418169:Q185H|.	ENSP00000263233:Q185H|.	Q|R	-|-	3|2	2|0	SYP|SYP	48936733|48936733	0.827000|0.827000	0.29292|0.29292	0.926000|0.926000	0.36857|0.36857	0.979000|0.979000	0.70002|0.70002	1.499000|1.499000	0.35671|0.35671	2.358000|2.358000	0.79984|0.79984	0.600000|0.600000	0.82982|0.82982	CAG|AGA		0.572	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		G	49049789	C	G	49049789	3	3	444	1	0	0	0	0	1	0	0	0	15461	912	32	3	394	3	SYP	23	49049789	Missense_Mutation	SNP	C	TCGA-61-1998-01A-01W-0722-08		49049789	106220771	61	24658											
ITIH5L	347365	broad.mit.edu	37	X	54785126	54785126	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1998-01A-01W-0722-08	TCGA-61-1998-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0284efcd-e4b8-45b5-9c1e-6f3950ac4bf0	5a480357-2b29-4ce2-b257-a77186ce5fad	g.chrX:54785126G>T	ENST00000218436.6	-	8	1410	c.1381C>A	c.(1381-1383)Cag>Aag	p.Q461K		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	461	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q461K(1)									CCCTTCAGCTGTAGGGCCGCA	0.592																																																1	Substitution - Missense(1)	ovary(1)	X											46	41	43					X																	54785126		2203	4300	6503	54801851	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1381C>A	X.37:g.54785126G>T	ENSP00000218436:p.Gln461Lys		54801851	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176243	0.38413	.	.	ENSG00000102313	ENST00000218436	T	0.13196	2.61	3.66	3.66	0.41972	von Willebrand factor, type A (2);	0.000000	0.64402	U	0.000001	T	0.17704	0.0425	M	0.73372	2.23	0.40047	D	0.975726	B	0.13594	0.008	B	0.09377	0.004	T	0.04320	-1.0960	10	0.38643	T	0.18	.	13.6298	0.62189	0.0:0.0:1.0:0.0	.	461	Q6UXX5	ITH5L_HUMAN	K	461	ENSP00000218436:Q461K	ENSP00000218436:Q461K	Q	-	1	0	ITIH5L	54801851	1.000000	0.71417	0.020000	0.16555	0.007000	0.05969	6.143000	0.71756	1.402000	0.46780	0.597000	0.82753	CAG		0.592	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54785126	G	T	54785126	3	4	444	1	0	0	0	0	1	0	0	0	7908	1386	48	3	2584	3	ITIH5L	23	54785126	Missense_Mutation	SNP	G	TCGA-61-1998-01A-01W-0722-08	5735337	54785126	100485434	62	24659											
CMPK1	51727	broad.mit.edu	37	1	47838691	47838691	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2000-01A-01W-0722-08	TCGA-61-2000-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	53f1343e-92d7-456b-803a-20e762014601	9c46a2e4-242a-4794-ab15-702b0f8b26f2	g.chr1:47838691G>T	ENST00000371873.5	+	3	532	c.383G>T	c.(382-384)aGa>aTa	p.R128I	CMPK1_ENST00000450808.2_Missense_Mutation_p.R79I	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic									p.R128I(1)		endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						GGGTTTCCAAGAAATCAAGAC	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											122	108	113					1																	47838691		2203	4300	6503	47611278	SO:0001583	missense	51727			AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"UMP-CMP kinase", "Cytidine monophosphate kinase"	191710	"cytidylate kinase"	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.383G>T	1.37:g.47838691G>T	ENSP00000360939:p.Arg128Ile		47611278		Missense_Mutation	SNP	ENST00000371873.5	37	CCDS549.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296755	0.95574	.	.	ENSG00000162368	ENST00000371873;ENST00000450808	D;D	0.87029	-2.2;-2.2	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96131	0.8739	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.97392	0.9990	10	0.87932	D	0	-14.8976	19.275	0.94027	0.0:0.0:1.0:0.0	.	79;128	E9PGI8;B2R6S5	.;.	I	128;79	ENSP00000360939:R128I;ENSP00000398192:R79I	ENSP00000360937:R128I	R	+	2	0	CMPK1	47611278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.471000	0.97696	2.523000	0.85059	0.563000	0.77884	AGA		0.363	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308		T	47838691	G	T	47838691	3	4	445	1	0	0	0	0	1	0	0	0	3580	942	33	3	393	3	CMPK1	1	47838691	Missense_Mutation	SNP	G	TCGA-61-2000-01A-01W-0722-08		47838691	201411930	1	24660											
FNDC7	163479	broad.mit.edu	37	1	109273510	109273510	+	Silent	SNP	C	C	A			TCGA-61-2000-01A-01W-0722-08	TCGA-61-2000-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	53f1343e-92d7-456b-803a-20e762014601	9c46a2e4-242a-4794-ab15-702b0f8b26f2	g.chr1:109273510C>A	ENST00000370017.3	+	9	2116	c.1839C>A	c.(1837-1839)acC>acA	p.T613T	FNDC7_ENST00000271311.2_Silent_p.T614T	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	613	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.T380T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TTAGTGCCACCGGGTTGACTG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	1											127	106	113					1																	109273510		2203	4300	6503	109075033	SO:0001819	synonymous_variant	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1839C>A	1.37:g.109273510C>A			109075033	A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	CCDS44185.1																																																																																				0.438	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		A	109273510	C	A	109273510	2	1	445	1	0	0	0	0	0	0	0	1	5973	639	23	3		3	FNDC7	1	109273510	Silent	SNP	C	TCGA-61-2000-01A-01W-0722-08	61434819	109273510	139977111	2	24661											
CDK8	1024	broad.mit.edu	37	13	26956987	26956987	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2000-01A-01W-0722-08	TCGA-61-2000-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	53f1343e-92d7-456b-803a-20e762014601	9c46a2e4-242a-4794-ab15-702b0f8b26f2	g.chr13:26956987G>C	ENST00000381527.3	+	5	996	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	CDK8_ENST00000536792.1_Intron	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E165Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGAAGGTCCTGAGCGAGGAAG	0.323																																																1	Substitution - Missense(1)	ovary(1)	13											107	111	110					13																	26956987		2203	4300	6503	25854987	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.493G>C	13.37:g.26956987G>C	ENSP00000370938:p.Glu165Gln		25854987	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849125	0.91277	.	.	ENSG00000132964	ENST00000381527	T	0.66460	-0.21	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	0.75466	0.3853	L	0.28400	0.85	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72625	0.962;0.978	T	0.76124	-0.3074	10	0.66056	D	0.02	-16.3225	20.5827	0.99408	0.0:0.0:1.0:0.0	.	165;165	P49336-2;P49336	.;CDK8_HUMAN	Q	165	ENSP00000370938:E165Q	ENSP00000370938:E165Q	E	+	1	0	CDK8	25854987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.142000	0.94618	2.941000	0.99782	0.655000	0.94253	GAG		0.323	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			C	26956987	G	C	26956987	3	2	445	1	0	0	0	0	1	0	0	0	3150	1291	45	3	511	3	CDK8	13	26956987	Missense_Mutation	SNP	G	TCGA-61-2000-01A-01W-0722-08		26956987	88212891	3	24662											
AP1G1	164	broad.mit.edu	37	16	71808378	71808378	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2000-01A-01W-0722-08	TCGA-61-2000-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	53f1343e-92d7-456b-803a-20e762014601	9c46a2e4-242a-4794-ab15-702b0f8b26f2	g.chr16:71808378T>G	ENST00000299980.4	-	3	760	c.319A>C	c.(319-321)Atc>Ctc	p.I107L	AP1G1_ENST00000569748.1_Missense_Mutation_p.I107L|AP1G1_ENST00000393512.3_Missense_Mutation_p.I107L|AP1G1_ENST00000433195.2_Missense_Mutation_p.I130L|AP1G1_ENST00000423132.2_Missense_Mutation_p.I107L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.I107L(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TACTTCTTGATACAGTTGGTC	0.373																																																1	Substitution - Missense(1)	ovary(1)	16											147	143	145					16																	71808378		2198	4300	6498	70365879	SO:0001583	missense	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.319A>C	16.37:g.71808378T>G	ENSP00000299980:p.Ile107Leu		70365879	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	T	9.334	1.061293	0.19987	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422;ENST00000450149	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	4.72	4.72	0.59763	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.049906	0.85682	D	0.000000	T	0.02156	0.0067	N	0.01122	-1.005	0.58432	D	0.999997	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.007;0.009;0.001	T	0.37596	-0.9699	10	0.02654	T	1	-3.099	14.6404	0.68720	0.0:0.0:0.0:1.0	.	189;107;130;107	B4DS96;O43747;B3KXW5;O43747-2	.;AP1G1_HUMAN;.;.	L	107;107;107;130;189;107	ENSP00000299980:I107L;ENSP00000377148:I107L;ENSP00000409153:I107L;ENSP00000403259:I130L;ENSP00000405836:I107L	ENSP00000299980:I107L	I	-	1	0	AP1G1	70365879	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.686000	0.84128	1.915000	0.55452	0.467000	0.42956	ATC		0.373	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			G	71808378	T	G	71808378	3	3	445	1	0	0	0	0	1	0	0	0	732	1406	49	5	2246	5	AP1G1	16	71808378	Missense_Mutation	SNP	T	TCGA-61-2000-01A-01W-0722-08		71808378	18546375	4	24663											
TP53	7157	broad.mit.edu	37	17	7578536	7578536	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2000-01A-01W-0722-08	TCGA-61-2000-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	53f1343e-92d7-456b-803a-20e762014601	9c46a2e4-242a-4794-ab15-702b0f8b26f2	g.chr17:7578536T>C	ENST00000269305.4	-	5	583	c.394A>G	c.(394-396)Aag>Gag	p.K132E	TP53_ENST00000445888.2_Missense_Mutation_p.K132E|TP53_ENST00000413465.2_Missense_Mutation_p.K132E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.K132E|TP53_ENST00000359597.4_Missense_Mutation_p.K132E|TP53_ENST00000420246.2_Missense_Mutation_p.K132E	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132E(20)|p.K132Q(13)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K132*(3)|p.N131fs*27(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.L130fs*16(1)|p.K132W(1)|p.K39E(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)	CAAAACATCTTGTTGAGGGCA	0.557		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"	67	Substitution - Missense(35)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(3)	breast(11)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(7)|ovary(6)|large_intestine(5)|urinary_tract(5)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|adrenal_gland(2)|stomach(2)|oesophagus(2)|prostate(2)|soft_tissue(1)|cervix(1)|kidney(1)|biliary_tract(1)|pancreas(1)|liver(1)	17	GRCh37	CM086989|CM973641	TP53	M							46	47	46					17																	7578536		2203	4300	6503	7519261	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.394A>G	17.37:g.7578536T>C	ENSP00000269305:p.Lys132Glu		7519261	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	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670498	0.88348	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.48	5.48	0.80851	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	0.99876	0.9941	M	0.91768	3.24	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.991;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.992;0.953;0.98;0.995;0.989;1.0	D	0.96352	0.9259	10	0.87932	D	0	-14.0777	13.8301	0.63375	0.0:0.0:0.0:1.0	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132E;ENSP00000352610:K132E;ENSP00000269305:K132E;ENSP00000398846:K132E;ENSP00000391127:K132E;ENSP00000391478:K132E;ENSP00000423862:K39E;ENSP00000424104:K132E	ENSP00000269305:K132E	K	-	1	0	TP53	7519261	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.993000	0.88291	2.206000	0.71126	0.533000	0.62120	AAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578536	T	C	7578536	3	2	445	1	0	0	0	0	1	0	0	0	16381	1821	63	4	904	4	TP53	17	7578536	Missense_Mutation	SNP	T	TCGA-61-2000-01A-01W-0722-08		7578536	73616674	5	24664											
ST6GALNAC3	256435	broad.mit.edu	37	1	76877903	76877903	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr1:76877903T>C	ENST00000328299.3	+	3	572	c.424T>C	c.(424-426)Tat>Cat	p.Y142H	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	142					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.Y142H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAACCCTGATTATTTTTTCAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											116	117	117					1																	76877903		2203	4300	6503	76650491	SO:0001583	missense	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.424T>C	1.37:g.76877903T>C	ENSP00000329214:p.Tyr142His		76650491	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530725	0.27387	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.28255	1.62	6.17	6.17	0.99709	.	0.122765	0.56097	D	0.000022	T	0.12390	0.0301	N	0.25825	0.765	0.52501	D	0.999956	B;B;P	0.44380	0.087;0.027;0.834	B;B;B	0.41666	0.168;0.082;0.363	T	0.05683	-1.0870	10	0.12430	T	0.62	-24.4319	16.0034	0.80327	0.0:0.0:0.0:1.0	.	77;142;142	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	H	142;142;141;76	ENSP00000329214:Y142H	ENSP00000329214:Y142H	Y	+	1	0	ST6GALNAC3	76650491	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.106000	0.41835	2.371000	0.80710	0.533000	0.62120	TAT		0.413	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		C	76877903	T	C	76877903	3	2	446	1	0	0	0	0	1	0	0	0	15227	1754	61	4	434	4	ST6GALNAC3	1	76877903	Missense_Mutation	SNP	T	TCGA-61-2002-01A-01W-0722-08		76877903	172372718	1	24665											
SEMA6C	10500	broad.mit.edu	37	1	151110554	151110554	+	Missense_Mutation	SNP	G	G	C	rs376541339		TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr1:151110554G>C	ENST00000341697.3	-	9	2266	c.575C>G	c.(574-576)gCg>gGg	p.A192G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	192	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A192G(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGAAATCCGCAGCTGTGGC	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											51	56	55					1																	151110554		2203	4300	6503	149377178	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.575C>G	1.37:g.151110554G>C	ENSP00000344148:p.Ala192Gly		149377178	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563915	0.86335	.	.	ENSG00000143434	ENST00000368914;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T	0.12147	2.71;2.71;2.71	4.85	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.289020	0.38217	N	0.001764	T	0.26666	0.0652	M	0.84773	2.715	0.41954	D	0.990675	P;P;P	0.47034	0.889;0.66;0.577	P;B;B	0.54210	0.745;0.23;0.277	T	0.04242	-1.0966	10	0.87932	D	0	.	15.5202	0.75859	0.0:0.0:1.0:0.0	.	192;192;192	B4DZD4;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	G	192	ENSP00000357910:A192G;ENSP00000357909:A192G;ENSP00000344148:A192G	ENSP00000344148:A192G	A	-	2	0	SEMA6C	149377178	1.000000	0.71417	0.037000	0.18230	0.943000	0.58893	9.490000	0.97952	2.532000	0.85374	0.561000	0.74099	GCG		0.627	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		C	151110554	G	C	151110554	3	2	446	1	0	0	0	0	1	0	0	0	14044	1087	38	3	2361	3	SEMA6C	1	151110554	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08	74232651	151110554	98140067	2	24666											
PVRL4	81607	broad.mit.edu	37	1	161047421	161047421	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr1:161047421G>T	ENST00000368012.3	-	3	854	c.552C>A	c.(550-552)gaC>gaA	p.D184E	PVRL4_ENST00000453926.2_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	184	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D184E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGACCTCCGTGTCCCAGGTCA	0.632																																					NSCLC(76;1160 1387 14476 16172 29359)											1	Substitution - Missense(1)	ovary(1)	1											55	46	49					1																	161047421		2203	4300	6503	159314045	SO:0001583	missense	81607			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.552C>A	1.37:g.161047421G>T	ENSP00000356991:p.Asp184Glu		159314045	B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	G	8.341	0.828697	0.16749	.	.	ENSG00000143217	ENST00000368012	D	0.86366	-2.11	5.78	4.82	0.62117	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.093569	0.47093	D	0.000249	T	0.52403	0.1732	N	0.03294	-0.36	0.80722	D	1	B	0.28667	0.219	B	0.28849	0.095	T	0.60662	-0.7219	10	0.02654	T	1	.	12.42	0.55514	0.0:0.2828:0.7172:0.0	.	184	Q96NY8	PVRL4_HUMAN	E	184	ENSP00000356991:D184E	ENSP00000356991:D184E	D	-	3	2	PVRL4	159314045	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.803000	0.38863	2.729000	0.93468	0.650000	0.86243	GAC		0.632	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		T	161047421	G	T	161047421	3	4	446	1	0	0	0	0	1	0	0	0	12845	1368	48	3	1008	3	PVRL4	1	161047421	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08	9936867	161047421	88203200	3	24667											
LPGAT1	9926	broad.mit.edu	37	1	211956632	211956632	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr1:211956632C>G	ENST00000366997.4	-	5	892	c.666G>C	c.(664-666)ttG>ttC	p.L222F	LPGAT1_ENST00000366996.1_Missense_Mutation_p.L222F	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	222					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)	p.L222F(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		CAAGTGCATTCAAAATAATTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											71	71	71					1																	211956632		2203	4300	6503	210023255	SO:0001583	missense	9926			D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"family with sequence similarity 34, member A"	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.666G>C	1.37:g.211956632C>G	ENSP00000355964:p.Leu222Phe		210023255	Q53YL2	Missense_Mutation	SNP	ENST00000366997.4	37	CCDS31018.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369879	0.82573	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	T;T	0.41065	1.01;1.01	5.93	5.93	0.95920	Phospholipid/glycerol acyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.53892	-0.8374	10	0.38643	T	0.18	-17.068	20.3368	0.98748	0.0:1.0:0.0:0.0	.	222	Q92604	LGAT1_HUMAN	F	222	ENSP00000355964:L222F;ENSP00000355963:L222F	ENSP00000355963:L222F	L	-	3	2	LPGAT1	210023255	1.000000	0.71417	0.631000	0.29282	0.913000	0.54294	5.320000	0.65841	2.805000	0.96524	0.655000	0.94253	TTG		0.383	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873		G	211956632	C	G	211956632	3	3	446	1	0	0	0	0	1	0	0	0	8914	825	29	3	462	3	LPGAT1	1	211956632	Missense_Mutation	SNP	C	TCGA-61-2002-01A-01W-0722-08	50909211	211956632	37293989	4	24668											
EPAS1	2034	broad.mit.edu	37	2	46605800	46605800	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr2:46605800A>G	ENST00000263734.3	+	11	1958	c.1448A>G	c.(1447-1449)aAt>aGt	p.N483S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	483					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.N483S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCCTAGCCCAATAGCCCTGAA	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											103	100	101					2																	46605800		2203	4300	6503	46459304	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1448A>G	2.37:g.46605800A>G	ENSP00000263734:p.Asn483Ser		46459304	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	0.267	-0.995324	0.02145	.	.	ENSG00000116016	ENST00000263734	T	0.39997	1.05	5.55	3.72	0.42706	.	0.216468	0.30630	N	0.009217	T	0.10981	0.0268	N	0.00648	-1.295	0.28458	N	0.916007	B	0.02656	0.0	B	0.01281	0.0	T	0.33292	-0.9874	10	0.02654	T	1	.	7.9286	0.29889	0.1433:0.0:0.7257:0.131	.	483	Q99814	EPAS1_HUMAN	S	483	ENSP00000263734:N483S	ENSP00000263734:N483S	N	+	2	0	EPAS1	46459304	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	3.533000	0.53561	0.685000	0.31468	-1.100000	0.02121	AAT		0.502	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		G	46605800	A	G	46605800	3	3	446	1	0	0	0	0	1	0	0	0	5150	101	4	4	1490	4	EPAS1	2	46605800	Missense_Mutation	SNP	A	TCGA-61-2002-01A-01W-0722-08		46605800	196593573	5	24669											
IL18R1	8809	broad.mit.edu	37	2	102984374	102984374	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr2:102984374G>A	ENST00000409599.1	+	4	504	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E50K|IL18R1_ENST00000334376.3_Missense_Mutation_p.E50K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	50	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.E50K(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACATGAGATTGAAACAACCAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											127	119	122					2																	102984374		2203	4300	6503	102350806	SO:0001583	missense	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.148G>A	2.37:g.102984374G>A	ENSP00000387211:p.Glu50Lys		102350806	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	6.300	0.423449	0.11928	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.23	-2.35	0.06684	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.535540	0.03512	N	0.219759	T	0.24851	0.0603	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17038	0.002;0.02;0.002	B;B;B	0.15484	0.004;0.013;0.004	T	0.08086	-1.0739	10	0.06494	T	0.89	.	1.1998	0.01882	0.4375:0.1533:0.2534:0.1558	.	50;50;50	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	K	50	ENSP00000386663:E50K;ENSP00000387211:E50K;ENSP00000233957:E50K;ENSP00000334030:E50K	ENSP00000233957:E50K	E	+	1	0	IL18R1	102350806	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.520000	0.06252	-0.265000	0.09352	0.563000	0.77884	GAA		0.428	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		A	102984374	G	A	102984374	3	1	446	1	0	0	0	0	1	0	0	0	7647	1291	45	2	154	2	IL18R1	2	102984374	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08	56378574	102984374	140214999	6	24670											
NCKAP5	344148	broad.mit.edu	37	2	133541057	133541057	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr2:133541057C>A	ENST00000409261.1	-	14	3700	c.3327G>T	c.(3325-3327)gaG>gaT	p.E1109D	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1109D|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1109	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGATGGTGACTCATTTACCC	0.488																																																0			2											210	224	219					2																	133541057		2084	4216	6300	133257527	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3327G>T	2.37:g.133541057C>A	ENSP00000387128:p.Glu1109Asp		133257527	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780553	0.31502	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10382	2.88;2.88	5.41	-1.0	0.10196	.	0.000000	0.38720	U	0.001581	T	0.07143	0.0181	L	0.34521	1.04	0.44024	D	0.996749	B	0.23249	0.082	B	0.25140	0.058	T	0.27468	-1.0073	10	0.36615	T	0.2	.	6.9452	0.24514	0.0:0.5233:0.1158:0.3608	.	1109	O14513	NCKP5_HUMAN	D	1109	ENSP00000387128:E1109D;ENSP00000380603:E1109D	ENSP00000380603:E1109D	E	-	3	2	NCKAP5	133257527	0.755000	0.28372	0.073000	0.20177	0.047000	0.14425	-0.131000	0.10482	-0.078000	0.12730	-0.136000	0.14681	GAG		0.488	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		A	133541057	C	A	133541057	3	1	446	1	0	0	0	0	1	0	0	0	10223	564	20	3	2430	3	NCKAP5	2	133541057	Missense_Mutation	SNP	C	TCGA-61-2002-01A-01W-0722-08	30556683	133541057	109658316	7	24671											
TTN	7273	broad.mit.edu	37	2	179414890	179414890	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr2:179414890T>A	ENST00000591111.1	-	287	86976	c.86752A>T	c.(86752-86754)Act>Tct	p.T28918S	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T21619S|TTN_ENST00000342175.6_Missense_Mutation_p.T21686S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T21494S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T30559S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27991S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28918	Ig-like 133.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T21494S(1)|p.T27989S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAACCAAGTTACTCGAGGC	0.428																																																2	Substitution - Missense(2)	ovary(2)	2											204	200	201					2																	179414890		1869	4109	5978	179123136	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86752A>T	2.37:g.179414890T>A	ENSP00000465570:p.Thr28918Ser		179123136	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	16.80	3.222260	0.58560	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65375	0.2685	L	0.58925	1.835	0.31698	N	0.640984	P;P;P;P	0.51537	0.891;0.891;0.891;0.946	P;P;P;P	0.48952	0.516;0.516;0.516;0.596	T	0.73962	-0.3817	9	0.87932	D	0	.	10.6581	0.45686	0.0:0.0714:0.0:0.9286	.	21494;21619;21686;28918	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	27991;21494;21686;21619;21491	ENSP00000343764:T27991S;ENSP00000434586:T21494S;ENSP00000340554:T21686S;ENSP00000352154:T21619S	ENSP00000340554:T21686S	T	-	1	0	TTN	179123136	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	1.254000	0.32897	2.317000	0.78254	0.460000	0.39030	ACT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179414890	T	A	179414890	3	1	446	1	0	0	0	0	1	0	0	0	16735	1725	60	5	16408	5	TTN	2	179414890	Missense_Mutation	SNP	T	TCGA-61-2002-01A-01W-0722-08	45873833	179414890	63784483	8	24672											
GRAMD1C	54762	broad.mit.edu	37	3	113623065	113623065	+	Silent	SNP	A	A	G			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr3:113623065A>G	ENST00000358160.4	+	8	1227	c.735A>G	c.(733-735)gaA>gaG	p.E245E	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000440446.2_Silent_p.E40E|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Silent_p.E78E	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	245						integral component of membrane (GO:0016021)		p.E245E(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTACCAGTGAATCAATTAGTC	0.358																																																1	Substitution - coding silent(1)	ovary(1)	3											86	92	90					3																	113623065		2203	4300	6503	115105755	SO:0001819	synonymous_variant	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.735A>G	3.37:g.113623065A>G			115105755	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																				0.358	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		G	113623065	A	G	113623065	2	3	446	1	0	0	0	0	0	0	0	1	6749	98	4	4		4	GRAMD1C	3	113623065	Silent	SNP	A	TCGA-61-2002-01A-01W-0722-08		113623065	84399365	9	24673											
STXBP5L	9515	broad.mit.edu	37	3	120764285	120764285	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr3:120764285G>T	ENST00000273666.6	+	5	644	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.A125S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A125S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A125S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A125S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	125					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A125S(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTTCTAGGGTGCCTTGGTCAG	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											166	159	161					3																	120764285		1844	4087	5931	122246975	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.373G>T	3.37:g.120764285G>T	ENSP00000273666:p.Ala125Ser		122246975	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821322	0.90873	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.54071	0.59;1.63;0.59;0.59;1.63;0.76;1.63	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.80028	2.48	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.69745	-0.5062	10	0.22109	T	0.4	-12.0368	18.2281	0.89924	0.0:0.0:1.0:0.0	.	125;125	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	S	125	ENSP00000273666:A125S;ENSP00000420019:A125S;ENSP00000419627:A125S;ENSP00000420287:A125S;ENSP00000420666:A125S;ENSP00000419404:A125S;ENSP00000420167:A125S	ENSP00000273666:A125S	A	+	1	0	STXBP5L	122246975	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.791000	0.91849	2.543000	0.85770	0.655000	0.94253	GCC		0.353	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			T	120764285	G	T	120764285	3	4	446	1	0	0	0	0	1	0	0	0	15359	1319	46	3	387	3	STXBP5L	3	120764285	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08	7141220	120764285	77258145	10	24674											
MAGEF1	64110	broad.mit.edu	37	3	184429410	184429410	+	Nonsense_Mutation	SNP	A	A	T			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr3:184429410A>T	ENST00000317897.3	-	1	426	c.200T>A	c.(199-201)tTg>tAg	p.L67*		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	67						extracellular vesicular exosome (GO:0070062)		p.L67*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GCGCCTTGCCAAGGCTTTGGC	0.682																																																1	Substitution - Nonsense(1)	ovary(1)	3											53	59	57					3																	184429410		2203	4300	6503	185912104	SO:0001587	stop_gained	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.200T>A	3.37:g.184429410A>T	ENSP00000315064:p.Leu67*		185912104	Q9H215	Nonsense_Mutation	SNP	ENST00000317897.3	37	CCDS3269.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620488	0.87460	.	.	ENSG00000177383	ENST00000317897	.	.	.	3.18	-2.42	0.06542	.	5.481240	0.00744	N	0.001032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	3.1229	0.06397	0.393:0.0:0.3962:0.2108	.	.	.	.	X	67	.	ENSP00000315064:L67X	L	-	2	0	MAGEF1	185912104	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.271000	0.08572	-0.225000	0.09913	0.533000	0.62120	TTG		0.682	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		T	184429410	A	T	184429410	4	4	446	1	0	0	0	0	0	1	0	0	9187	131	5	5	727	5	MAGEF1	3	184429410	Nonsense_Mutation	SNP	A	TCGA-61-2002-01A-01W-0722-08	63665125	184429410	13593020	11	24675											
LEPREL1	55214	broad.mit.edu	37	3	189838071	189838071	+	Silent	SNP	G	G	C			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr3:189838071G>C	ENST00000319332.5	-	1	647	c.450C>G	c.(448-450)ccC>ccG	p.P150P	LEPREL1_ENST00000427335.2_Intron|LEPREL1-AS1_ENST00000412203.1_RNA	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	150					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.P150P(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTAGTTGTAGGGCACTCTGC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	3											27	22	23					3																	189838071		2203	4299	6502	191320765	SO:0001819	synonymous_variant	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.450C>G	3.37:g.189838071G>C			191320765	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	ENST00000319332.5	37	CCDS3294.1																																																																																				0.662	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		C	189838071	G	C	189838071	2	2	446	1	0	0	0	0	0	0	0	1	8730	987	35	3		3	LEPREL1	3	189838071	Silent	SNP	G	TCGA-61-2002-01A-01W-0722-08	5408661	189838071	8184359	12	24676											
UBE2CBP	90025	broad.mit.edu	37	6	83667113	83667113	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr6:83667113G>A	ENST00000369747.3	-	9	1189	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	356	HECT-like.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)	p.A356V(1)									CAAGCAGGTTGCAGAGGGCAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											121	98	106					6																	83667113		2203	4300	6503	83723832	SO:0001583	missense	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.1067C>T	6.37:g.83667113G>A	ENSP00000358762:p.Ala356Val		83723832	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567360	0.45694	.	.	ENSG00000118420	ENST00000369747	T	0.30981	1.51	5.57	4.62	0.57501	.	0.622429	0.17964	N	0.156098	T	0.14485	0.0350	L	0.44542	1.39	0.43708	D	0.996178	B	0.30146	0.27	B	0.31812	0.136	T	0.03051	-1.1078	10	0.32370	T	0.25	-4.8493	10.2709	0.43483	0.0:0.0:0.7082:0.2918	.	356	Q7Z6J8	UB2CB_HUMAN	V	356	ENSP00000358762:A356V	ENSP00000358762:A356V	A	-	2	0	UBE2CBP	83723832	0.937000	0.31787	0.893000	0.35052	0.982000	0.71751	3.490000	0.53245	2.628000	0.89032	0.462000	0.41574	GCA		0.463	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		A	83667113	G	A	83667113	3	1	446	1	0	0	0	0	1	0	0	0	16847	1319	46	2	110	2	UBE2CBP	6	83667113	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08		83667113	87447954	13	24677											
MUC17	140453	broad.mit.edu	37	7	100684114	100684114	+	Silent	SNP	T	T	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr7:100684114T>A	ENST00000306151.4	+	3	9481	c.9417T>A	c.(9415-9417)tcT>tcA	p.S3139S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3139	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S3139S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGACCACTTCTACTGAAGCCC	0.488																																																1	Substitution - coding silent(1)	ovary(1)	7											299	307	304					7																	100684114		2203	4300	6503	100470834	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9417T>A	7.37:g.100684114T>A			100470834	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100684114	T	A	100684114	2	1	446	1	0	0	0	0	0	0	0	1	9974	1509	53	5		5	MUC17	7	100684114	Silent	SNP	T	TCGA-61-2002-01A-01W-0722-08		100684114	58454549	14	24678											
ANK1	286	broad.mit.edu	37	8	41543690	41543690	+	Missense_Mutation	SNP	C	C	T	rs138642972	byFrequency	TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr8:41543690C>T	ENST00000347528.4	-	36	4453	c.4370G>A	c.(4369-4371)cGt>cAt	p.R1457H	ANK1_ENST00000352337.4_Missense_Mutation_p.R1457H|ANK1_ENST00000265709.8_Missense_Mutation_p.R1498H|ANK1_ENST00000396942.1_Missense_Mutation_p.R1457H|ANK1_ENST00000396945.1_Missense_Mutation_p.R1457H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R1457H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGGCCTTCACGGATGACCCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	8						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	154	110	125		4370,4493,4370,4370,4370	5.5	0.3	8	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	29,29,29,29,29	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1457/1881,1498/1898,1457/1857,1457/1882,1457/1720	41543690	4,13002	2203	4300	6503	41662847	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4370G>A	8.37:g.41543690C>T	ENSP00000339620:p.Arg1457His		41662847	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443909	0.83993	4.54E-4	2.33E-4	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.49	5.49	0.81192	Death (3);DEATH-like (2);	0.059384	0.64402	D	0.000004	D	0.93314	0.7869	M	0.80847	2.515	0.80722	D	1	P;D;D;P;P;D	0.63880	0.917;0.985;0.958;0.933;0.68;0.993	P;P;P;P;P;D	0.63597	0.723;0.849;0.849;0.552;0.723;0.916	D	0.93865	0.7157	10	0.72032	D	0.01	.	18.3408	0.90304	0.0:1.0:0.0:0.0	.	1498;1457;1457;1457;1457;773	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	H	1457;1457;1457;1457;1457;1457;1498;1457	ENSP00000339620:R1457H;ENSP00000289734:R1457H;ENSP00000369082:R1457H;ENSP00000380149:R1457H;ENSP00000380147:R1457H;ENSP00000309131:R1457H;ENSP00000265709:R1498H	ENSP00000265709:R1498H	R	-	2	0	ANK1	41662847	1.000000	0.71417	0.303000	0.25071	0.461000	0.32589	4.440000	0.59975	2.573000	0.86826	0.655000	0.94253	CGT		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41543690	C	T	41543690	3	4	446	1	0	0	0	0	1	0	0	0	620	536	19	1	1629	1	ANK1	8	41543690	Missense_Mutation	SNP	C	TCGA-61-2002-01A-01W-0722-08		41543690	104820332	15	24679											
ZNF16	7564	broad.mit.edu	37	8	146157289	146157289	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr8:146157289C>A	ENST00000276816.4	-	4	1070	c.884G>T	c.(883-885)tGt>tTt	p.C295F	ZNF16_ENST00000394909.2_Missense_Mutation_p.C295F	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	295	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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.C295F(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		ACATTCATTACACATATAAGG	0.473																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	8											85	84	84					8																	146157289		2203	4300	6503	146128093	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.884G>T	8.37:g.146157289C>A	ENSP00000276816:p.Cys295Phe		146128093	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016725	0.35606	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	D;D	0.85088	-1.94;-1.94	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94981	0.8376	H	0.97291	3.975	0.44587	D	0.997551	D	0.89917	1.0	D	0.97110	1.0	D	0.96778	0.9573	9	0.87932	D	0	.	15.0669	0.72002	0.0:1.0:0.0:0.0	.	295	P17020	ZNF16_HUMAN	F	295	ENSP00000276816:C295F;ENSP00000378369:C295F	ENSP00000276816:C295F	C	-	2	0	ZNF16	146128093	1.000000	0.71417	0.064000	0.19789	0.028000	0.11728	5.060000	0.64312	2.056000	0.61249	0.563000	0.77884	TGT		0.473	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		A	146157289	C	A	146157289	3	1	446	1	0	0	0	0	1	0	0	0	17738	478	17	3	1168	3	ZNF16	8	146157289	Missense_Mutation	SNP	C	TCGA-61-2002-01A-01W-0722-08	104613599	146157289	206733	16	24680			1	17		2	2	73	C		9.070307e-05
ZNF16	7564	broad.mit.edu	37	8	146157361	146157361	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr8:146157361C>G	ENST00000276816.4	-	4	998	c.812G>C	c.(811-813)gGg>gCg	p.G271A	ZNF16_ENST00000394909.2_Missense_Mutation_p.G271A	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	271	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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.G271A(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GAAGGCTTTCCCACATTCGCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	8											127	126	126					8																	146157361		2203	4300	6503	146128165	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.812G>C	8.37:g.146157361C>G	ENSP00000276816:p.Gly271Ala		146128165	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099205	0.37048	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.21361	2.01;2.01	3.76	1.77	0.24775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28699	0.0711	M	0.85542	2.76	0.24214	N	0.995469	P	0.35242	0.492	B	0.36244	0.22	T	0.23013	-1.0200	9	0.87932	D	0	.	7.6652	0.28426	0.0:0.7345:0.1656:0.0999	.	271	P17020	ZNF16_HUMAN	A	271	ENSP00000276816:G271A;ENSP00000378369:G271A	ENSP00000276816:G271A	G	-	2	0	ZNF16	146128165	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.381000	0.20619	0.707000	0.31934	0.467000	0.42956	GGG		0.463	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		G	146157361	C	G	146157361	3	3	446	1	0	0	0	0	1	0	0	0	17738	623	22	3	1240	3	ZNF16	8	146157361	Missense_Mutation	SNP	C	TCGA-61-2002-01A-01W-0722-08	72	146157361	206661	17	24681			1	17		2	2	73	C		9.070307e-05
HSPA14	51182	broad.mit.edu	37	10	14897850	14897850	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr10:14897850G>C	ENST00000378372.3	+	10	1140	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	301					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.E301Q(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AGCAAGATTTGAACTTCTTTG	0.368																																																1	Substitution - Missense(1)	ovary(1)	10											69	68	69					10																	14897850		2203	4297	6500	14937856	SO:0001583	missense	51182			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.901G>C	10.37:g.14897850G>C	ENSP00000367623:p.Glu301Gln		14937856	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037621	0.75617	.	.	ENSG00000187522	ENST00000378372	T	0.01246	5.11	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.05686	0.0149	M	0.85099	2.735	0.80722	D	1	B	0.22909	0.077	B	0.33620	0.167	T	0.10177	-1.0641	10	0.87932	D	0	-31.0105	19.195	0.93684	0.0:0.0:1.0:0.0	.	301	Q0VDF9	HSP7E_HUMAN	Q	301	ENSP00000367623:E301Q	ENSP00000367623:E301Q	E	+	1	0	HSPA14	14937856	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.590000	0.90821	2.607000	0.88179	0.585000	0.79938	GAA		0.368	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		C	14897850	G	C	14897850	3	2	446	1	0	0	0	0	1	0	0	0	7407	1291	45	3	939	3	HSPA14	10	14897850	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08		14897850	120636897	18	24682											
TCF7L2	6934	broad.mit.edu	37	10	114905822	114905822	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr10:114905822C>A	ENST00000355995.4	+	8	1348	c.841C>A	c.(841-843)Ccc>Acc	p.P281T	TCF7L2_ENST00000369395.1_Missense_Mutation_p.P306T|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P281T|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P258T|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P305T|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P281T|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P281T|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P281T|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P277T|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P258T|TCF7L2_ENST00000545257.1_Missense_Mutation_p.P281T			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	281	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P258T(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACACCCCTACCCCACAGCTCT	0.512			T	VTI1A	colorectal																																		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	1	Substitution - Missense(1)	ovary(1)	10											199	179	186					10																	114905822		2203	4300	6503	114895812	SO:0001583	missense	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.841C>A	10.37:g.114905822C>A	ENSP00000348274:p.Pro281Thr		114895812	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	c	23.4	4.417004	0.83449	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395	D;D;D;D;D;D;D;D;D	0.99567	-5.81;-5.7;-5.74;-5.77;-6.06;-6.18;-6.11;-5.84;-6.09	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	M	0.83483	2.645	0.80722	D	1	D;D;D;D;B;D;D;D;P;D;P;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.997;0.999;0.402;0.973;0.999;0.999;0.454;0.998;0.768;0.999;0.999;1.0;1.0;1.0;0.992;1.0;1.0	D;D;D;D;B;D;D;D;B;D;B;D;D;D;D;D;D;D;D	0.91635	0.946;0.979;0.971;0.968;0.186;0.909;0.94;0.979;0.17;0.926;0.418;0.986;0.971;0.999;0.999;0.98;0.939;0.991;0.98	D	0.98302	1.0519	10	0.87932	D	0	-6.835	20.1022	0.97879	0.0:1.0:0.0:0.0	.	138;98;175;281;152;196;254;258;258;224;281;258;258;258;305;258;281;254;258	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	281;281;281;281;305;281;281;258;277;258;306	ENSP00000348274:P281T;ENSP00000440547:P281T;ENSP00000444972:P281T;ENSP00000446238:P281T;ENSP00000347949:P305T;ENSP00000446172:P281T;ENSP00000443626:P281T;ENSP00000358404:P258T;ENSP00000344823:P258T	ENSP00000298692:P277T	P	+	1	0	TCF7L2	114895812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.759000	0.94783	0.555000	0.69702	CCC		0.512	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		A	114905822	C	A	114905822	3	1	446	1	0	0	0	0	1	0	0	0	15698	623	22	3	1016	3	TCF7L2	10	114905822	Missense_Mutation	SNP	C	TCGA-61-2002-01A-01W-0722-08	100007972	114905822	20628925	19	24683											
CLNS1A	1207	broad.mit.edu	37	11	77340943	77340943	+	Splice_Site	SNP	G	G	A	rs372932790		TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr11:77340943G>A	ENST00000525428.1	-	2	217	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	CLNS1A_ENST00000528364.1_Splice_Site_p.R43C|CLNS1A_ENST00000525064.1_Splice_Site_p.R43C|CLNS1A_ENST00000532069.1_Splice_Site_p.R43C|CLNS1A_ENST00000263309.3_Splice_Site_p.R43C	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	43					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.R43C(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CAAGACAGGCGGCTGAAAAAC	0.383																																																1	Substitution - Missense(1)	ovary(1)	11						G	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	71	68	69		127	4.3	1	11		69	0,8584		0,0,4292	no	missense-near-splice	CLNS1A	NM_001293.2	180	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	benign	43/238	77340943	1,12983	2200	4292	6492	77018591	SO:0001630	splice_region_variant	1207			U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.126-1C>T	11.37:g.77340943G>A			77018591	B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Missense_Mutation	SNP	ENST00000525428.1	37	CCDS8252.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265390	0.40095	2.27E-4	0.0	ENSG00000074201	ENST00000525428;ENST00000263309;ENST00000525064;ENST00000532069;ENST00000528364	T;T;T;T;T	0.35236	1.35;1.34;1.32;1.37;1.35	5.19	4.28	0.50868	.	0.110203	0.64402	D	0.000005	T	0.34716	0.0907	L	0.58354	1.805	0.80722	D	1	B;B	0.26081	0.141;0.003	B;B	0.17722	0.019;0.008	T	0.16988	-1.0384	10	0.40728	T	0.16	0.0154	14.0192	0.64543	0.0737:0.0:0.9263:0.0	.	43;43	E9PMI6;P54105	.;ICLN_HUMAN	C	43	ENSP00000433919:R43C;ENSP00000263309:R43C;ENSP00000433741:R43C;ENSP00000434963:R43C;ENSP00000434311:R43C	ENSP00000263309:R43C	R	-	1	0	CLNS1A	77018591	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.098000	0.94202	1.556000	0.49512	-0.157000	0.13467	CGC		0.383	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2	NM_001293	Missense_Mutation	A	77340943	G	A	77340943	5	1	446	1	0	0	0	0	0	0	1	0	3548	1130	39	1	606	1	CLNS1A	11	77340943	Splice_Site	SNP	G	TCGA-61-2002-01A-01W-0722-08		77340943	57665573	20	24684											
PKNOX2	63876	broad.mit.edu	37	11	125221240	125221240	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr11:125221240G>C	ENST00000298282.9	+	4	310	c.39G>C	c.(37-39)atG>atC	p.M13I	PKNOX2_ENST00000542175.1_5'UTR|PKNOX2_ENST00000530517.1_Intron	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	13					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.M13I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CTCTGACGATGATGGCCACGC	0.657																																																1	Substitution - Missense(1)	ovary(1)	11											37	42	40					11																	125221240		2092	4221	6313	124726450	SO:0001583	missense	63876			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.39G>C	11.37:g.125221240G>C	ENSP00000298282:p.Met13Ile		124726450	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	g	15.93	2.979388	0.53827	.	.	ENSG00000165495	ENST00000298282;ENST00000527238;ENST00000531212;ENST00000535518	T;T	0.71934	-0.61;-0.61	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	L	0.43923	1.385	0.80722	D	1	P	0.35872	0.525	B	0.42214	0.38	T	0.64786	-0.6325	10	0.24483	T	0.36	-12.8146	18.4197	0.90586	0.0:0.0:1.0:0.0	.	13	Q96KN3	PKNX2_HUMAN	I	13;13;13;1	ENSP00000298282:M13I;ENSP00000434255:M13I	ENSP00000298282:M13I	M	+	3	0	PKNOX2	124726450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.755000	0.91646	2.622000	0.88805	0.651000	0.88453	ATG		0.657	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			C	125221240	G	C	125221240	3	2	446	1	0	0	0	0	1	0	0	0	11983	1290	45	3	41	3	PKNOX2	11	125221240	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08	47880297	125221240	9785276	21	24685											
A2ML1	144568	broad.mit.edu	37	12	8990969	8990969	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr12:8990969T>A	ENST00000299698.7	+	9	1073	c.893T>A	c.(892-894)aTg>aAg	p.M298K		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCTGTGGACATGGCCACCTTT	0.463																																																0			12											182	171	175					12																	8990969		1972	4167	6139	8882236	SO:0001583	missense	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.893T>A	12.37:g.8990969T>A	ENSP00000299698:p.Met298Lys		8882236		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460190	0.43736	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.31510	1.49	3.75	3.75	0.43078	.	0.145907	0.33235	N	0.005127	T	0.27933	0.0688	L	0.59436	1.845	0.80722	D	1	B	0.33345	0.409	B	0.31495	0.131	T	0.15178	-1.0446	10	0.59425	D	0.04	.	9.1631	0.37035	0.0:0.0:0.0:1.0	.	298	A8K2U0	A2ML1_HUMAN	K	298	ENSP00000299698:M298K	ENSP00000299698:M298K	M	+	2	0	A2ML1	8882236	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	1.750000	0.38329	1.956000	0.56807	0.528000	0.53228	ATG		0.463	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		A	8990969	T	A	8990969	3	1	446	1	0	0	0	0	1	0	0	0	5	1464	51	5	927	5	A2ML1	12	8990969	Missense_Mutation	SNP	T	TCGA-61-2002-01A-01W-0722-08		8990969	124860926	22	24686											
OSBPL8	114882	broad.mit.edu	37	12	76791502	76791502	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr12:76791502G>T	ENST00000261183.3	-	8	1123	c.644C>A	c.(643-645)cCt>cAt	p.P215H	OSBPL8_ENST00000393250.4_Missense_Mutation_p.P173H|OSBPL8_ENST00000393249.2_Missense_Mutation_p.P173H	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	215	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.P215H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTGCTCCAAAGGATGGAAAAG	0.378																																																1	Substitution - Missense(1)	ovary(1)	12											109	93	99					12																	76791502		2203	4300	6503	75315633	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.644C>A	12.37:g.76791502G>T	ENSP00000261183:p.Pro215His		75315633	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135674	0.94517	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.75260	-0.92;2.4;-0.92;2.4;-0.92	5.74	5.74	0.90152	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.103332	0.64402	D	0.000002	D	0.86940	0.6054	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.87469	0.2413	10	0.87932	D	0	-16.1815	19.9326	0.97124	0.0:0.0:1.0:0.0	.	190;215	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	H	173;215;200;173;215;215;190	ENSP00000376939:P173H;ENSP00000261183:P215H;ENSP00000376940:P173H;ENSP00000450238:P215H;ENSP00000447893:P190H	ENSP00000261183:P215H	P	-	2	0	OSBPL8	75315633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.720000	0.93068	0.650000	0.86243	CCT		0.378	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		T	76791502	G	T	76791502	3	4	446	1	0	0	0	0	1	0	0	0	11283	1000	35	3	2093	3	OSBPL8	12	76791502	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08	67800533	76791502	57060393	23	24687											
PLA2G4F	255189	broad.mit.edu	37	15	42442302	42442302	+	Splice_Site	SNP	C	C	G			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr15:42442302C>G	ENST00000382396.4	-	10	1009	c.923G>C	c.(922-924)aGc>aCc	p.S308T	PLA2G4F_ENST00000397272.3_Splice_Site_p.S308T			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	308	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.S308T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCCCACTCACCTCATTTCCAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	15											88	78	82					15																	42442302		2203	4299	6502	40229594	SO:0001630	splice_region_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.923+1G>C	15.37:g.42442302C>G			40229594	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282512	0.40394	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.01474	4.85;4.89	4.7	4.7	0.59300	Lysophospholipase, catalytic domain (2);	0.273852	0.30639	N	0.009197	T	0.02727	0.0082	L	0.52573	1.65	0.35207	D	0.774804	P;P	0.47106	0.89;0.89	B;B	0.40066	0.318;0.318	T	0.57814	-0.7746	9	.	.	.	-17.49	15.1647	0.72814	0.0:1.0:0.0:0.0	.	95;308	A2RRC4;Q68DD2	.;PA24F_HUMAN	T	304;308;308;308;308	ENSP00000380442:S308T;ENSP00000371833:S308T	.	S	-	2	0	PLA2G4F	40229594	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.062000	0.57492	2.329000	0.79093	0.655000	0.94253	AGC		0.592	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	Missense_Mutation	G	42442302	C	G	42442302	5	3	446	1	0	0	0	0	0	0	1	0	12006	695	24	3	1670	3	PLA2G4F	15	42442302	Splice_Site	SNP	C	TCGA-61-2002-01A-01W-0722-08		42442302	60089090	24	24688											
C15orf42	90381	broad.mit.edu	37	15	90167994	90167994	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr15:90167994G>C	ENST00000268138.7	+	20	4558	c.4453G>C	c.(4453-4455)Gtg>Ctg	p.V1485L	TICRR_ENST00000560985.1_Missense_Mutation_p.V1484L|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1485					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.V1485L(1)									CGTCTTATCAGTGGAAGAGGG	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											119	112	115					15																	90167994		2200	4299	6499	87968998	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4453G>C	15.37:g.90167994G>C	ENSP00000268138:p.Val1485Leu		87968998	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	5.190	0.220564	0.09863	.	.	ENSG00000140534	ENST00000268138	T	0.08193	3.12	4.54	1.53	0.23141	.	0.523050	0.18549	N	0.137941	T	0.05364	0.0142	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45687	-0.9244	10	0.08837	T	0.75	-0.0405	4.2804	0.10829	0.4038:0.165:0.4311:0.0	.	1485	Q7Z2Z1	TICRR_HUMAN	L	1485	ENSP00000268138:V1485L	ENSP00000268138:V1485L	V	+	1	0	C15orf42	87968998	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.058000	0.14301	0.101000	0.17610	0.655000	0.94253	GTG		0.527	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		C	90167994	G	C	90167994	3	2	446	1	0	0	0	0	1	0	0	0	1796	1029	36	3	4531	3	C15orf42	15	90167994	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08	47725692	90167994	12363398	25	24689											
WDR93	56964	broad.mit.edu	37	15	90276309	90276309	+	Nonsense_Mutation	SNP	C	C	A	rs368092361		TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr15:90276309C>A	ENST00000268130.7	+	13	1504	c.1403C>A	c.(1402-1404)tCg>tAg	p.S468*	WDR93_ENST00000444934.2_Nonsense_Mutation_p.S185*|WDR93_ENST00000560294.1_Intron	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	468					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.S468*(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AAATATTTCTCGGTCCACAAA	0.483																																																1	Substitution - Nonsense(1)	ovary(1)	15											98	106	103					15																	90276309		2200	4299	6499	88077313	SO:0001587	stop_gained	56964				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1403C>A	15.37:g.90276309C>A	ENSP00000268130:p.Ser468*		88077313	Q8N7Y8|Q9NP89	Nonsense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	T	36	5.912087	0.97099	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	.	.	.	5.73	3.38	0.38709	.	1.109770	0.06928	N	0.810584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-0.4972	4.2488	0.10684	0.0:0.1852:0.1897:0.6251	.	.	.	.	X	468;185	.	ENSP00000268130:S468X	S	+	2	0	WDR93	88077313	0.001000	0.12720	0.195000	0.23364	0.877000	0.50540	0.744000	0.26245	1.002000	0.39104	-0.275000	0.10095	TCG		0.483	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		A	90276309	C	A	90276309	4	1	446	1	0	0	0	0	0	1	0	0	17340	893	31	3	1449	3	WDR93	15	90276309	Nonsense_Mutation	SNP	C	TCGA-61-2002-01A-01W-0722-08	108315	90276309	12255083	26	24690											
DNAH3	55567	broad.mit.edu	37	16	20975412	20975412	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr16:20975412G>A	ENST00000261383.3	-	53	9793	c.9794C>T	c.(9793-9795)tCc>tTc	p.S3265F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3265	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S3265F(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACTTTGGAGGAGGACAGAAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	16											142	139	140					16																	20975412		2201	4300	6501	20882913	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9794C>T	16.37:g.20975412G>A	ENSP00000261383:p.Ser3265Phe		20882913	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033209	0.54896	.	.	ENSG00000158486	ENST00000261383	T	0.55588	0.51	5.82	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87804	0.2627	10	0.87932	D	0	.	15.3086	0.74014	0.0683:0.0:0.9317:0.0	.	3265	Q8TD57	DYH3_HUMAN	F	3265	ENSP00000261383:S3265F	ENSP00000261383:S3265F	S	-	2	0	DNAH3	20882913	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	8.013000	0.88655	2.755000	0.94549	0.591000	0.81541	TCC		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	20975412	G	A	20975412	3	1	446	1	0	0	0	0	1	0	0	0	4603	1174	41	2	2595	2	DNAH3	16	20975412	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08		20975412	69379341	27	24691											
JMJD5	79831	broad.mit.edu	37	16	27221648	27221648	+	Silent	SNP	C	C	T	rs372258213		TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr16:27221648C>T	ENST00000286096.4	+	2	377	c.204C>T	c.(202-204)agC>agT	p.S68S	KDM8_ENST00000441782.2_Silent_p.S106S|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Silent_p.S68S|KDM8_ENST00000380948.2_Silent_p.S68S	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	68					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)	p.S68S(1)									TGCAGAGCAGCGAGGTGATCC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	16						C	,	0,4392		0,0,2196	86	58	67		318,204	-0.6	0.8	16		67	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous	JMJD5	NM_001145348.1,NM_024773.2	,	0,1,6490	TT,TC,CC		0.0116,0.0,0.0077	,	106/455,68/417	27221648	1,12981	2196	4295	6491	27129149	SO:0001819	synonymous_variant	79831			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"Chromatin-modifying enzymes / K-demethylases"	25840	protein-coding gene	gene with protein product		611917	"jumonji domain containing 5"	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.204C>T	16.37:g.27221648C>T			27129149	B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	CCDS10627.1																																																																																				0.607	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		T	27221648	C	T	27221648	2	4	446	1	0	0	0	0	0	0	0	1	7952	767	27	1		1	JMJD5	16	27221648	Silent	SNP	C	TCGA-61-2002-01A-01W-0722-08	6246236	27221648	63133105	28	24692											
ANKFY1	51479	broad.mit.edu	37	17	4145675	4145675	+	Silent	SNP	G	G	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr17:4145675G>A	ENST00000341657.4	-	2	114	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	ANKFY1_ENST00000433651.1_Silent_p.L27L|ANKFY1_ENST00000570535.1_Silent_p.L69L|ANKFY1_ENST00000574367.1_Silent_p.L27L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	27					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.L27L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCTCCGCCAGCTTCTTCTGC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	17											102	105	104					17																	4145675		2021	4181	6202	4092424	SO:0001819	synonymous_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.79C>T	17.37:g.4145675G>A			4092424	A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37																																																																																					0.562	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		A	4145675	G	A	4145675	2	1	446	1	0	0	0	0	0	0	0	1	626	962	34	2		2	ANKFY1	17	4145675	Silent	SNP	G	TCGA-61-2002-01A-01W-0722-08		4145675	77049535	29	24693											
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr17:7578239C>A	ENST00000269305.4	-	6	799	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E204*	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	204	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)	TCCAAATACTCCACACGCAAA	0.542		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"	63	Substitution - Nonsense(39)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Substitution - Missense(3)|Complex - compound substitution(2)|Deletion - In frame(1)	lung(15)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|NS(5)|breast(4)|bone(4)|oesophagus(3)|ovary(3)|central_nervous_system(2)|stomach(1)|liver(1)|urinary_tract(1)|pancreas(1)	17											133	118	123					17																	7578239		2203	4300	6503	7518964	SO:0001587	stop_gained	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.610G>T	17.37:g.7578239C>A	ENSP00000269305:p.Glu204*		7518964	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489037	0.44249	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	-0.604	0.11626	.	0.445020	0.26082	N	0.026458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-5.2849	1.4244	0.02320	0.133:0.2829:0.3261:0.258	.	.	.	.	X	204;204;204;204;204;204;193;111;72;111;72	.	ENSP00000269305:E204X	E	-	1	0	TP53	7518964	0.600000	0.26899	0.018000	0.16275	0.030000	0.12068	0.945000	0.29056	-0.004000	0.14419	0.655000	0.94253	GAG		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578239	C	A	7578239	4	1	446	1	0	0	0	0	0	1	0	0	16381	864	30	3	684	3	TP53	17	7578239	Nonsense_Mutation	SNP	C	TCGA-61-2002-01A-01W-0722-08	3432564	7578239	73616971	30	24694											
ADAP2	55803	broad.mit.edu	37	17	29253866	29253866	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr17:29253866C>T	ENST00000330889.3	+	3	582	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	ADAP2_ENST00000580525.1_Missense_Mutation_p.L89F	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	83	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)|p.L83F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CAATGGAAACCTCCGTGTGAA	0.483																																																2	Substitution - Missense(1)|Unknown(1)	ovary(1)|central_nervous_system(1)	17											126	105	112					17																	29253866		2203	4300	6503	26277992	SO:0001583	missense	55803			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.247C>T	17.37:g.29253866C>T	ENSP00000329468:p.Leu83Phe		26277992	Q8N4Q6|Q96SD5	Missense_Mutation	SNP	ENST00000330889.3	37	CCDS11261.1	.	.	.	.	.	.	.	.	.	.	C	8.432	0.848847	0.17034	.	.	ENSG00000184060	ENST00000330889	T	0.42900	0.96	5.48	4.45	0.53987	.	0.445605	0.26696	N	0.022979	T	0.57577	0.2063	M	0.64567	1.98	0.31338	N	0.683989	D;D;D	0.76494	0.999;0.964;0.972	D;P;P	0.71184	0.972;0.725;0.82	T	0.61888	-0.6970	10	0.56958	D	0.05	.	10.7397	0.46145	0.1896:0.8104:0.0:0.0	.	89;83;83	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	F	83	ENSP00000329468:L83F	ENSP00000329468:L83F	L	+	1	0	ADAP2	26277992	0.020000	0.18652	1.000000	0.80357	0.468000	0.32798	0.541000	0.23207	2.599000	0.87857	0.561000	0.74099	CTC		0.483	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		T	29253866	C	T	29253866	3	4	446	1	0	0	0	0	1	0	0	0	280	681	24	2	257	2	ADAP2	17	29253866	Missense_Mutation	SNP	C	TCGA-61-2002-01A-01W-0722-08	21675627	29253866	51941344	31	24695											
PSMD11	5717	broad.mit.edu	37	17	30791556	30791556	+	Silent	SNP	G	G	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr17:30791556G>A	ENST00000261712.3	+	5	671	c.408G>A	c.(406-408)ttG>ttA	p.L136L	Y_RNA_ENST00000365230.1_RNA|PSMD11_ENST00000457654.2_Silent_p.L136L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	136					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.L136L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TGGTGTCTTTGTACTTTGATA	0.408																																					Ovarian(130;1038 1716 9294 11987 19279)											1	Substitution - coding silent(1)	ovary(1)	17											143	127	133					17																	30791556		2203	4300	6503	27815669	SO:0001819	synonymous_variant	5717			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.408G>A	17.37:g.30791556G>A			27815669	A8K3I7|E1P663|O00495|Q53FT5	Silent	SNP	ENST00000261712.3	37	CCDS11272.1																																																																																				0.408	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		A	30791556	G	A	30791556	2	1	446	1	0	0	0	0	0	0	0	1	12697	1368	48	2		2	PSMD11	17	30791556	Silent	SNP	G	TCGA-61-2002-01A-01W-0722-08	1537690	30791556	50403654	32	24696											
GPR179	440435	broad.mit.edu	37	17	36495366	36495366	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr17:36495366G>C	ENST00000342292.4	-	2	857	c.837C>G	c.(835-837)atC>atG	p.I279M		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	279					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I279M(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CACACTGATTGATGTCCACAC	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											126	127	127					17																	36495366		2133	4229	6362	33748892	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.837C>G	17.37:g.36495366G>C	ENSP00000345060:p.Ile279Met		33748892		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818750	0.50633	.	.	ENSG00000188888	ENST00000342292	T	0.68331	-0.32	4.32	3.34	0.38264	.	0.239629	0.30920	N	0.008615	T	0.80470	0.4629	M	0.87269	2.87	0.36087	D	0.843175	D	0.89917	1.0	D	0.73708	0.981	D	0.84290	0.0499	10	0.87932	D	0	-17.1579	7.2665	0.26232	0.0925:0.0:0.7391:0.1683	.	279	Q6PRD1	GP179_HUMAN	M	279	ENSP00000345060:I279M	ENSP00000345060:I279M	I	-	3	3	GPR179	33748892	0.999000	0.42202	1.000000	0.80357	0.931000	0.56810	0.532000	0.23067	1.160000	0.42584	0.462000	0.41574	ATC		0.542	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			C	36495366	G	C	36495366	3	2	446	1	0	0	0	0	1	0	0	0	6674	1280	45	3	6306	3	GPR179	17	36495366	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08	5703810	36495366	44699844	33	24697											
CTAGE1	64693	broad.mit.edu	37	18	19997047	19997047	+	5'Flank	SNP	T	T	C			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr18:19997047T>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.K243R			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.K243R(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCTTTCATCTTTAGCAAGCG	0.353																																																1	Substitution - Missense(1)	ovary(1)	18											128	127	127					18																	19997047		2200	4299	6499	18251045	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997047T>C	Exception_encountered		18251045	B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37		.	.	.	.	.	.	.	.	.	.	T	10.98	1.505583	0.26949	.	.	ENSG00000212710	ENST00000391403	T	0.27720	1.65	0.381	0.381	0.16228	.	.	.	.	.	T	0.49525	0.1562	M	0.84511	2.7	0.09310	N	1	D	0.59767	0.986	P	0.58721	0.844	T	0.35126	-0.9801	7	.	.	.	.	.	.	.	.	243	Q96RT6	CTGE2_HUMAN	R	243	ENSP00000375220:K243R	.	K	-	2	0	CTAGE1	18251045	0.998000	0.40836	0.043000	0.18650	0.080000	0.17528	1.397000	0.34543	0.378000	0.24764	0.369000	0.22263	AAG		0.353	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		C	19997047	T	C	19997047	1	2	446	0	1	0	0	0	0	0	0	0	3992	1609	56	4		4	CTAGE1	18	19997047	5'Flank	SNP	T	TCGA-61-2002-01A-01W-0722-08		19997047	58080201	34	24698											
GP6	51206	broad.mit.edu	37	19	55525891	55525891	+	3'UTR	SNP	C	C	T			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr19:55525891C>T	ENST00000417454.1	-	0	1445				CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Silent_p.V474V	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.V474V(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CAAAGGGAAGCACGGGAGGAT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	19											71	74	73					19																	55525891		1966	4161	6127	60217703	SO:0001624	3_prime_UTR_variant	51206			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*398G>A	19.37:g.55525891C>T			60217703	Q9HCN7|Q9UIF2	Silent	SNP	ENST00000417454.1	37	CCDS46184.1																																																																																				0.512	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			T	55525891	C	T	55525891	1	4	446	0	1	0	0	0	0	0	0	0	6584	697	25	2		2	GP6	19	55525891	3'UTR	SNP	C	TCGA-61-2002-01A-01W-0722-08		55525891	3603092	35	24699											
TMPRSS2	7113	broad.mit.edu	37	21	42870072	42870072	+	5'UTR	SNP	C	C	G			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr21:42870072C>G	ENST00000332149.5	-	0	123				TMPRSS2_ENST00000398585.3_Missense_Mutation_p.D34H|TMPRSS2_ENST00000497881.1_5'UTR|TMPRSS2_ENST00000458356.1_5'UTR	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2						positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TTGCTGTTATCAACAGCATCG	0.363			T	"ERG, ETV1, ETV4, ETV5"	prostate																																		Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	1	Unknown(1)	ovary(1)	21											124	107	112					21																	42870072		2203	4300	6503	41791942	SO:0001623	5_prime_UTR_variant	7113			U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.-12G>C	21.37:g.42870072C>G			41791942	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240092	0.58995	.	.	ENSG00000184012	ENST00000398585	D	0.89415	-2.51	4.65	4.65	0.58169	.	.	.	.	.	D	0.87022	0.6074	N	0.08118	0	0.26516	N	0.974511	D	0.71674	0.998	P	0.62740	0.906	T	0.80582	-0.1318	9	0.54805	T	0.06	.	13.4181	0.60980	0.0:1.0:0.0:0.0	.	34	F8WES1	.	H	34	ENSP00000381588:D34H	ENSP00000381588:D34H	D	-	1	0	TMPRSS2	41791942	0.417000	0.25432	0.914000	0.36105	0.700000	0.40528	3.546000	0.53656	2.294000	0.77228	0.655000	0.94253	GAT		0.363	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			G	42870072	C	G	42870072	1	3	446	0	1	0	0	0	0	0	0	0	16247	826	29	3		3	TMPRSS2	21	42870072	5'UTR	SNP	C	TCGA-61-2002-01A-01W-0722-08		42870072	5259823	36	24700											
TRPM2	7226	broad.mit.edu	37	21	45798892	45798892	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chr21:45798892G>A	ENST00000397928.1	+	8	1472	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	TRPM2_ENST00000300481.9_Missense_Mutation_p.A343T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A343T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A343T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	343					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.A343T(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CATCGACAACGCCACCACCAA	0.622																																																1	Substitution - Missense(1)	ovary(1)	21											66	60	62					21																	45798892		2203	4300	6503	44623320	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1027G>A	21.37:g.45798892G>A	ENSP00000381023:p.Ala343Thr		44623320	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423393	0.62733	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	3.84	3.84	0.44239	.	0.209859	0.40222	N	0.001150	T	0.33760	0.0874	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;P	0.60949	0.881;0.844	T	0.23226	-1.0194	10	0.51188	T	0.08	-30.5778	15.9747	0.80054	0.0:0.0:1.0:0.0	.	343;343	E9PGK7;O94759	.;TRPM2_HUMAN	T	343	ENSP00000300482:A343T;ENSP00000381023:A343T;ENSP00000300481:A343T;ENSP00000381026:A343T	ENSP00000300481:A343T	A	+	1	0	TRPM2	44623320	1.000000	0.71417	0.993000	0.49108	0.299000	0.27559	7.018000	0.76406	1.971000	0.57363	0.563000	0.77884	GCC		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45798892	G	A	45798892	3	1	446	1	0	0	0	0	1	0	0	0	16586	1087	38	1	1057	1	TRPM2	21	45798892	Missense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08	2928820	45798892	2331003	37	24701											
WNK3	65267	broad.mit.edu	37	X	54259359	54259359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chrX:54259359G>A	ENST00000375159.2	-	20	4722	c.4723C>T	c.(4723-4725)Caa>Taa	p.Q1575*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.Q1575*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.Q1528*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1575					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q1575*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCAGTAGATTGGGTTTTGCTA	0.468																																																1	Substitution - Nonsense(1)	ovary(1)	X											160	143	149					X																	54259359		2203	4300	6503	54276084	SO:0001587	stop_gained	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4723C>T	X.37:g.54259359G>A	ENSP00000364301:p.Gln1575*		54276084	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	41	9.129297	0.99075	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.69	1.64	0.23874	.	0.261727	0.26170	N	0.025932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.5687	10.7298	0.46089	0.0865:0.4861:0.4275:0.0	.	.	.	.	X	1528;1575;1575	.	ENSP00000346667:Q1575X	Q	-	1	0	WNK3	54276084	0.141000	0.22595	0.001000	0.08648	0.641000	0.38312	1.507000	0.35758	0.164000	0.19529	0.594000	0.82650	CAA		0.468	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		A	54259359	G	A	54259359	4	1	446	1	0	0	0	0	0	1	0	0	17379	1357	47	2	695	2	WNK3	23	54259359	Nonsense_Mutation	SNP	G	TCGA-61-2002-01A-01W-0722-08		54259359	101011201	38	24702											
KIAA2022	340533	broad.mit.edu	37	X	73961170	73961170	+	Silent	SNP	C	C	T			TCGA-61-2002-01A-01W-0722-08	TCGA-61-2002-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	90f1ea49-ae0d-4f4d-9df0-cb993ec99642	81b9ff25-b257-449b-ba6f-c5a701083100	g.chrX:73961170C>T	ENST00000055682.6	-	3	3833	c.3222G>A	c.(3220-3222)ccG>ccA	p.P1074P		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1074					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.P1074P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAGGGGTGTCCGGTGGGGACA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	X											86	83	84					X																	73961170		2203	4300	6503	73877895	SO:0001819	synonymous_variant	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3222G>A	X.37:g.73961170C>T			73877895	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	CCDS35337.1																																																																																				0.498	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73961170	C	T	73961170	2	4	446	1	0	0	0	0	0	0	0	1	8269	639	23	1		1	KIAA2022	23	73961170	Silent	SNP	C	TCGA-61-2002-01A-01W-0722-08	19701811	73961170	81309390	39	24703											
HMCN1	83872	broad.mit.edu	37	1	186059939	186059939	+	Silent	SNP	T	T	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr1:186059939T>C	ENST00000271588.4	+	64	10006	c.9777T>C	c.(9775-9777)ctT>ctC	p.L3259L	HMCN1_ENST00000367492.2_Silent_p.L3259L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3259	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L3259L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAGTGTCCTTCTAGGAGAAA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	1											131	126	128					1																	186059939		2203	4300	6503	184326562	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9777T>C	1.37:g.186059939T>C			184326562	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186059939	T	C	186059939	2	2	447	1	0	0	0	0	0	0	0	1	7220	1770	62	4		4	HMCN1	1	186059939	Silent	SNP	T	TCGA-61-2003-01A-01W-0722-08		186059939	63190682	1	24704											
TP53BP2	7159	broad.mit.edu	37	1	223986086	223986086	+	Silent	SNP	G	G	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr1:223986086G>A	ENST00000343537.7	-	12	2070	c.1779C>T	c.(1777-1779)ccC>ccT	p.P593P	TP53BP2_ENST00000391878.2_Silent_p.P464P|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	587					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.P464P(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGGAAGGCTGGGGAGTAAAGG	0.532																																																1	Substitution - coding silent(1)	ovary(1)	1											127	137	133					1																	223986086		2203	4300	6503	222052709	SO:0001819	synonymous_variant	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1779C>T	1.37:g.223986086G>A			222052709	B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	CCDS44319.1																																																																																				0.532	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		A	223986086	G	A	223986086	2	1	447	1	0	0	0	0	0	0	0	1	16384	1219	43	2		2	TP53BP2	1	223986086	Silent	SNP	G	TCGA-61-2003-01A-01W-0722-08	37926147	223986086	25264535	2	24705											
VN1R5	317705	broad.mit.edu	37	1	247420071	247420071	+	IGR	SNP	C	C	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr1:247420071C>T								RP11-488L18.8 (14946 upstream) : Y_RNA (38065 downstream)																							GTTCATGGTCCTCTCAAGAGG	0.458																																																0			1											165	158	160					1																	247420071		1909	4127	6036	245486694	SO:0001628	intergenic_variant	317705																															1.37:g.247420071C>T			245486694		Missense_Mutation	SNP		37																																																																																				0	0.458									T	247420071	C	T	247420071	1	4	447	0	1	0	0	0	0	0	0	0	17181	681	24	2		2	VN1R5	1	247420071	IGR	SNP	C	TCGA-61-2003-01A-01W-0722-08	23433985	247420071	1830550	3	24706											
RASGRP3	25780	broad.mit.edu	37	2	33768654	33768654	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr2:33768654T>C	ENST00000403687.3	+	13	2094	c.1354T>C	c.(1354-1356)Ttt>Ctt	p.F452L	RASGRP3_ENST00000482731.1_3'UTR|RASGRP3_ENST00000402538.3_Missense_Mutation_p.F452L|RASGRP3_ENST00000407811.1_Missense_Mutation_p.F451L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	452	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.F452L(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCTGCCAATTTTCCCTTCTT	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											101	91	94					2																	33768654		1822	4085	5907	33622158	SO:0001583	missense	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1354T>C	2.37:g.33768654T>C	ENSP00000384192:p.Phe452Leu		33622158	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	T	34	5.302034	0.95601	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	D;D;D	0.82893	-1.64;-1.64;-1.66	5.54	5.54	0.83059	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90075	0.6900	M	0.66297	2.02	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.91635	0.999;0.995	D	0.91165	0.4964	10	0.87932	D	0	-14.0444	15.6717	0.77283	0.0:0.0:0.0:1.0	.	451;452	D6W583;Q8IV61	.;GRP3_HUMAN	L	452;452;451	ENSP00000385886:F452L;ENSP00000384192:F452L;ENSP00000383917:F451L	ENSP00000385886:F452L	F	+	1	0	RASGRP3	33622158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.967000	0.87967	2.102000	0.63906	0.460000	0.39030	TTT		0.328	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		C	33768654	T	C	33768654	3	2	447	1	0	0	0	0	1	0	0	0	13079	1841	64	4	1396	4	RASGRP3	2	33768654	Missense_Mutation	SNP	T	TCGA-61-2003-01A-01W-0722-08		33768654	209430719	4	24707											
ANKZF1	55139	broad.mit.edu	37	2	220098567	220098567	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr2:220098567G>T	ENST00000323348.5	+	8	1124	c.950G>T	c.(949-951)gGg>gTg	p.G317V	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.G317V|ANKZF1_ENST00000409849.1_Missense_Mutation_p.G107V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	317						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.G317V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAAAGGGGGGATCCCCGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											59	63	62					2																	220098567		1935	4130	6065	219806811	SO:0001583	missense	55139			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.950G>T	2.37:g.220098567G>T	ENSP00000321617:p.Gly317Val		219806811	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616592	0.46736	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.26518	1.73;1.92;1.73	5.13	2.87	0.33458	.	0.282037	0.42420	D	0.000709	T	0.29749	0.0743	L	0.57536	1.79	0.49299	D	0.999773	P;P;P	0.50443	0.773;0.935;0.808	B;P;B	0.48063	0.372;0.565;0.206	T	0.02676	-1.1125	10	0.56958	D	0.05	-2.2372	8.6369	0.33953	0.3185:0.0:0.6815:0.0	.	261;107;317	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	V	317;107;317	ENSP00000321617:G317V;ENSP00000386815:G107V;ENSP00000386337:G317V	ENSP00000321617:G317V	G	+	2	0	ANKZF1	219806811	0.975000	0.34042	0.955000	0.39395	0.986000	0.74619	2.103000	0.41806	0.474000	0.27392	0.655000	0.94253	GGG		0.592	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		T	220098567	G	T	220098567	3	4	447	1	0	0	0	0	1	0	0	0	693	1232	43	3	976	3	ANKZF1	2	220098567	Missense_Mutation	SNP	G	TCGA-61-2003-01A-01W-0722-08	186329913	220098567	23100806	5	24708											
GTF2E1	2960	broad.mit.edu	37	3	120489646	120489646	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr3:120489646C>T	ENST00000283875.5	+	3	613	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	174					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R174C(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAAGATGCACGCACACTTTT	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											215	208	210					3																	120489646		2203	4300	6503	121972336	SO:0001583	missense	2960			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.520C>T	3.37:g.120489646C>T	ENSP00000283875:p.Arg174Cys		121972336	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010546	0.75046	.	.	ENSG00000153767	ENST00000469772;ENST00000283875	T	0.57436	0.4	5.91	5.91	0.95273	Zinc finger, TFIIB-type (1);	0.047836	0.85682	D	0.000000	T	0.73606	0.3608	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76490	-0.2940	10	0.72032	D	0.01	-28.9424	12.8145	0.57657	0.2556:0.7444:0.0:0.0	.	174	P29083	T2EA_HUMAN	C	7;174	ENSP00000283875:R174C	ENSP00000283875:R174C	R	+	1	0	GTF2E1	121972336	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	2.623000	0.46435	2.813000	0.96785	0.655000	0.94253	CGC		0.428	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		T	120489646	C	T	120489646	3	4	447	1	0	0	0	0	1	0	0	0	6856	536	19	1	526	1	GTF2E1	3	120489646	Missense_Mutation	SNP	C	TCGA-61-2003-01A-01W-0722-08		120489646	77532784	6	24709											
PDGFRA	5156	broad.mit.edu	37	4	55144647	55144647	+	Silent	SNP	C	C	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr4:55144647C>A	ENST00000257290.5	+	15	2452	c.2121C>A	c.(2119-2121)atC>atA	p.I707I	FIP1L1_ENST00000507166.1_Silent_p.I467I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I707I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGCTGGATATCTTTGGATTGA	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - coding silent(1)	ovary(1)	4											94	92	93					4																	55144647		2203	4300	6503	54839404	SO:0001819	synonymous_variant	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2121C>A	4.37:g.55144647C>A			54839404	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		A	55144647	C	A	55144647	2	1	447	1	0	0	0	0	0	0	0	1	11661	903	32	3		3	PDGFRA	4	55144647	Silent	SNP	C	TCGA-61-2003-01A-01W-0722-08		55144647	136009629	7	24710											
SCLT1	132320	broad.mit.edu	37	4	129920832	129920832	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr4:129920832G>C	ENST00000281142.5	-	7	1047	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	SCLT1_ENST00000434680.1_Missense_Mutation_p.Q182E|SCLT1_ENST00000503215.1_Missense_Mutation_p.Q159E|SCLT1_ENST00000502495.1_5'Flank|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	182					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.Q182E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						ATTACCTTTTGTTTTTGACTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											103	102	103					4																	129920832		2202	4299	6501	130140282	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.544C>G	4.37:g.129920832G>C	ENSP00000281142:p.Gln182Glu		130140282	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867882	0.51588	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000503215	T;T;T	0.08720	3.06;3.06;3.06	5.63	5.63	0.86233	.	0.130668	0.52532	D	0.000065	T	0.27798	0.0684	M	0.64997	1.995	0.40284	D	0.978434	D;D	0.67145	0.996;0.99	D;D	0.76071	0.987;0.979	T	0.00239	-1.1888	9	.	.	.	-4.825	18.4348	0.90642	0.0:0.0:1.0:0.0	.	182;182	Q96NL6-2;Q96NL6	.;SCLT1_HUMAN	E	182;182;159	ENSP00000281142:Q182E;ENSP00000401539:Q182E;ENSP00000424029:Q159E	.	Q	-	1	0	SCLT1	130140282	1.000000	0.71417	0.967000	0.41034	0.422000	0.31414	4.809000	0.62591	2.636000	0.89361	0.557000	0.71058	CAA		0.383	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		C	129920832	G	C	129920832	3	2	447	1	0	0	0	0	1	0	0	0	13909	1386	48	3	1582	3	SCLT1	4	129920832	Missense_Mutation	SNP	G	TCGA-61-2003-01A-01W-0722-08	74776185	129920832	61233444	8	24711											
FHL5	9457	broad.mit.edu	37	6	97051625	97051625	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr6:97051625A>C	ENST00000326771.2	+	3	516	c.136A>C	c.(136-138)Aaa>Caa	p.K46Q	FHL5_ENST00000541107.1_Missense_Mutation_p.K46Q	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	46	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K46Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GGAATGCAAAAAACCAATTGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											132	122	125					6																	97051625		2203	4300	6503	97158346	SO:0001583	missense	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.136A>C	6.37:g.97051625A>C	ENSP00000326022:p.Lys46Gln		97158346	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	9.198	1.027745	0.19512	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.88586	-2.4;-2.4;-2.4	5.74	-0.0484	0.13839	Zinc finger, LIM-type (5);	0.472817	0.17871	N	0.159174	T	0.68329	0.2989	L	0.41027	1.25	0.26805	N	0.969129	B	0.18310	0.027	B	0.22152	0.038	T	0.60301	-0.7290	10	0.39692	T	0.17	.	5.7929	0.18371	0.4378:0.2354:0.3268:0.0	.	46	Q5TD97	FHL5_HUMAN	Q	46	ENSP00000442357:K46Q;ENSP00000326022:K46Q;ENSP00000396390:K46Q	ENSP00000326022:K46Q	K	+	1	0	FHL5	97158346	0.077000	0.21312	0.998000	0.56505	0.461000	0.32589	0.145000	0.16157	0.336000	0.23639	-0.242000	0.12053	AAA		0.368	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		C	97051625	A	C	97051625	3	2	447	1	0	0	0	0	1	0	0	0	5881	15	1	5	138	5	FHL5	6	97051625	Missense_Mutation	SNP	A	TCGA-61-2003-01A-01W-0722-08		97051625	74063442	9	24712											
TAAR2	9287	broad.mit.edu	37	6	132938805	132938805	+	Silent	SNP	G	G	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr6:132938805G>A	ENST00000367931.1	-	2	539	c.540C>T	c.(538-540)ttC>ttT	p.F180F	TAAR2_ENST00000275191.2_Silent_p.F135F|TAAR2_ENST00000537809.1_Silent_p.F135F			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	180					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.F180F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGGCCTCTGAGAAGACCACCC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	6											67	60	63					6																	132938805		2203	4300	6503	132980498	SO:0001819	synonymous_variant	9287			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.540C>T	6.37:g.132938805G>A			132980498	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	ENST00000367931.1	37	CCDS34541.1																																																																																				0.463	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		A	132938805	G	A	132938805	2	1	447	1	0	0	0	0	0	0	0	1	15490	933	33	2		2	TAAR2	6	132938805	Silent	SNP	G	TCGA-61-2003-01A-01W-0722-08	35887180	132938805	38176262	10	24713											
NUDT5	11164	broad.mit.edu	37	10	12212901	12212901	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr10:12212901C>A	ENST00000491614.1	-	8	889	c.494G>T	c.(493-495)gGa>gTa	p.G165V	NUDT5_ENST00000378927.3_Missense_Mutation_p.G165V|NUDT5_ENST00000537776.1_Missense_Mutation_p.G165V|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Missense_Mutation_p.G178V|NUDT5_ENST00000378940.3_Missense_Mutation_p.G165V			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	165	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)	p.G165V(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GAACATACCTCCATCCCCTGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											128	112	117					10																	12212901		2203	4300	6503	12252907	SO:0001583	missense	11164			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.494G>T	10.37:g.12212901C>A	ENSP00000419628:p.Gly165Val		12252907	A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	37	CCDS7089.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415643	0.62511	.	.	ENSG00000165609	ENST00000491614;ENST00000378929;ENST00000378937;ENST00000537776;ENST00000378940;ENST00000378927	T;T;T;T;T	0.53206	0.79;0.79;0.79;0.79;0.63	5.6	5.6	0.85130	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.103078	0.64402	D	0.000003	T	0.72244	0.3436	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.77560	-0.2542	10	0.87932	D	0	-22.1945	13.9273	0.63970	0.0:0.9248:0.0:0.0752	.	165	Q9UKK9	NUDT5_HUMAN	V	165;165;178;165;165;165	ENSP00000419628:G165V;ENSP00000368219:G178V;ENSP00000445116:G165V;ENSP00000368222:G165V;ENSP00000368209:G165V	ENSP00000368209:G165V	G	-	2	0	NUDT5	12252907	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	3.103000	0.50298	2.629000	0.89072	0.563000	0.77884	GGA		0.458	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			A	12212901	C	A	12212901	3	1	447	1	0	0	0	0	1	0	0	0	10742	855	30	3	177	3	NUDT5	10	12212901	Missense_Mutation	SNP	C	TCGA-61-2003-01A-01W-0722-08		12212901	123321846	11	24714											
RUFY2	3189	broad.mit.edu	37	10	70105770	70105770	+	IGR	SNP	C	C	G			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr10:70105770C>G	ENST00000265866.7	+	0	2339				RUFY2_ENST00000602465.1_Missense_Mutation_p.K557N|RUFY2_ENST00000265865.3_Missense_Mutation_p.K147N|RUFY2_ENST00000388768.2_Missense_Mutation_p.K592N	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K592N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						TTACCTTTCTCTTAGAGAGTG	0.323																																																1	Substitution - Missense(1)	ovary(1)	10											101	91	94					10																	70105770		1816	4068	5884	69775776	SO:0001628	intergenic_variant	55680				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349		10.37:g.70105770C>G			69775776	A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681103	0.47886	.	.	ENSG00000204130	ENST00000388768;ENST00000265865	T;T	0.71934	-0.61;-0.61	5.93	1.82	0.25136	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.050787	0.85682	D	0.000000	T	0.47783	0.1464	N	0.13235	0.315	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.004;0.005	T	0.21999	-1.0229	10	0.39692	T	0.17	.	5.6733	0.17735	0.1289:0.3794:0.0:0.4917	.	592;606	Q8WXA3-3;Q8WXA3	.;RUFY2_HUMAN	N	592;147	ENSP00000373420:K592N;ENSP00000265865:K147N	ENSP00000265865:K147N	K	-	3	2	RUFY2	69775776	0.937000	0.31787	0.999000	0.59377	0.995000	0.86356	0.022000	0.13511	0.339000	0.23719	0.655000	0.94253	AAG		0.323	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			G	70105770	C	G	70105770	1	3	447	0	1	0	0	0	0	0	0	0	13742	912	32	3		3	RUFY2	10	70105770	IGR	SNP	C	TCGA-61-2003-01A-01W-0722-08	57892869	70105770	65428977	12	24715											
CNTN1	1272	broad.mit.edu	37	12	41337526	41337526	+	Splice_Site	SNP	G	G	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr12:41337526G>C	ENST00000551295.2	+	13	1624	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	CNTN1_ENST00000547702.1_Splice_Site_p.D503H|CNTN1_ENST00000360099.3_Splice_Site_p.D503H|CNTN1_ENST00000347616.1_Splice_Site_p.D503H|CNTN1_ENST00000547849.1_Splice_Site_p.D503H|CNTN1_ENST00000348761.2_Splice_Site_p.D492H	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	503					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D503H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTTATCACAGGTAAGTTAAT	0.333																																																1	Substitution - Missense(1)	ovary(1)	12											95	93	94					12																	41337526		2203	4299	6502	39623793	SO:0001630	splice_region_variant	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1507+1G>C	12.37:g.41337526G>C			39623793	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517958	0.64634	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.13	3.12	0.35913	Immunoglobulin-like fold (1);	0.291159	0.36932	N	0.002332	T	0.47248	0.1435	L	0.58428	1.81	0.37352	D	0.910863	B;D;D	0.71674	0.391;0.998;0.997	P;D;D	0.70016	0.575;0.967;0.928	T	0.52601	-0.8554	10	0.87932	D	0	.	9.8935	0.41304	0.1848:0.0:0.8152:0.0	.	503;492;503	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	H	503;503;503;503;503;492	ENSP00000448004:D503H;ENSP00000447006:D503H;ENSP00000448653:D503H;ENSP00000325660:D503H;ENSP00000353213:D503H;ENSP00000261160:D492H	ENSP00000325660:D503H	D	+	1	0	CNTN1	39623793	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.338000	0.59316	0.539000	0.28788	0.561000	0.74099	GAT		0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	Missense_Mutation	C	41337526	G	C	41337526	5	2	447	1	0	0	0	0	0	0	1	0	3640	1014	35	3	1553	3	CNTN1	12	41337526	Splice_Site	SNP	G	TCGA-61-2003-01A-01W-0722-08		41337526	92514369	13	24716											
SILV	6490	broad.mit.edu	37	12	56359772	56359772	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr12:56359772G>C	ENST00000548747.1	-	1	686	c.24C>G	c.(22-24)tgC>tgG	p.C8W	RP11-973D8.4_ENST00000554022.1_RNA|CDK2_ENST00000266970.4_5'Flank|PMEL_ENST00000360714.4_Missense_Mutation_p.C8W|PMEL_ENST00000536427.1_Missense_Mutation_p.C8W|PMEL_ENST00000548493.1_Missense_Mutation_p.C8W|PMEL_ENST00000449260.2_Missense_Mutation_p.C8W|PMEL_ENST00000539511.1_Missense_Mutation_p.C8W|PMEL_ENST00000550464.1_Missense_Mutation_p.C8W|PMEL_ENST00000552882.1_Missense_Mutation_p.C8W|CDK2_ENST00000440311.2_5'Flank|CDK2_ENST00000553376.1_5'Flank|PMEL_ENST00000548689.1_Intron|CDK2_ENST00000354056.4_5'Flank|PMEL_ENST00000550447.1_Missense_Mutation_p.C8W			P40967	PMEL_HUMAN	premelanosome protein	8					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.C8W(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATGAAGAAGGCATCTTTTTA	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											304	257	273					12																	56359772		2203	4300	6503	54646039	SO:0001583	missense	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.24C>G	12.37:g.56359772G>C	ENSP00000448828:p.Cys8Trp		54646039	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	4.969	0.180042	0.09443	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000546543;ENST00000549418	T;T;T;T;T;T;T;T;T;T;T	0.32023	3.07;3.07;1.98;3.07;3.07;3.07;2.71;1.98;1.47;2.46;2.95	4.77	2.81	0.32909	.	0.335148	0.26518	N	0.023935	T	0.25975	0.0633	L	0.44542	1.39	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.12156	0.007;0.007;0.002	T	0.18745	-1.0327	10	0.36615	T	0.2	-0.9428	13.0364	0.58875	0.0:0.3073:0.6927:0.0	.	8;8;8	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	W	8	ENSP00000402758:C8W;ENSP00000449690:C8W;ENSP00000450036:C8W;ENSP00000448828:C8W;ENSP00000447374:C8W;ENSP00000353940:C8W;ENSP00000438695:C8W;ENSP00000445005:C8W;ENSP00000447732:C8W;ENSP00000448849:C8W;ENSP00000446662:C8W	ENSP00000353940:C8W	C	-	3	2	PMEL	54646039	0.023000	0.18921	0.159000	0.22649	0.005000	0.04900	0.214000	0.17541	1.399000	0.46721	-0.336000	0.08194	TGC		0.488	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		C	56359772	G	C	56359772	3	2	447	1	0	0	0	0	1	0	0	0	14325	1195	42	3	2005	3	SILV	12	56359772	Missense_Mutation	SNP	G	TCGA-61-2003-01A-01W-0722-08	15022246	56359772	77492123	14	24717											
PEBP1	5037	broad.mit.edu	37	12	118575880	118575880	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr12:118575880C>G	ENST00000261313.2	+	2	524	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V		NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	58						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L58V(1)		ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGATGGTCTTGATTCAGG	0.493																																					NSCLC(44;94 1357 12187 49467)											1	Substitution - Missense(1)	ovary(1)	12											61	52	55					12																	118575880		2203	4300	6503	117060263	SO:0001583	missense	5037			X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"Raf kinase inhibitory protein", "hippocampal cholinergic neurostimulating peptide"	604591	"prostatic binding protein"	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.172C>G	12.37:g.118575880C>G	ENSP00000261313:p.Leu58Val		117060263	B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	C	9.331	1.060517	0.19987	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.30182	1.54	4.53	3.55	0.40652	.	0.288557	0.38326	N	0.001723	T	0.14657	0.0354	N	0.17379	0.485	0.25729	N	0.985288	B;B	0.11235	0.004;0.002	B;B	0.17433	0.018;0.004	T	0.06338	-1.0832	10	0.30078	T	0.28	-10.7185	2.4647	0.04550	0.3027:0.5089:0.0:0.1883	.	58;58	B4DRT4;P30086	.;PEBP1_HUMAN	V	58	ENSP00000261313:L58V	ENSP00000261313:L58V	L	+	1	0	PEBP1	117060263	0.994000	0.37717	0.975000	0.42487	0.690000	0.40134	1.783000	0.38664	2.346000	0.79739	0.655000	0.94253	CTT		0.493	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		G	118575880	C	G	118575880	3	3	447	1	0	0	0	0	1	0	0	0	11713	913	32	3	178	3	PEBP1	12	118575880	Missense_Mutation	SNP	C	TCGA-61-2003-01A-01W-0722-08	62216108	118575880	15276015	15	24718											
ATP12A	479	broad.mit.edu	37	13	25264510	25264510	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr13:25264510C>A	ENST00000381946.3	+	6	748	c.581C>A	c.(580-582)aCc>aAc	p.T194N	ATP12A_ENST00000218548.6_Missense_Mutation_p.T194N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	194					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.T194N(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GAGAAGAAGACCATCCCTTCA	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - Missense(1)	ovary(1)	13											118	112	114					13																	25264510		2203	4300	6503	24162510	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.581C>A	13.37:g.25264510C>A	ENSP00000371372:p.Thr194Asn		24162510	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	1.927	-0.446812	0.04572	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.91686	-2.89;-2.89	4.74	-3.35	0.04928	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.697610	0.03175	N	0.171294	D	0.84074	0.5392	L	0.33189	0.99	0.09310	N	1	B;B	0.24882	0.113;0.091	B;B	0.26310	0.047;0.068	T	0.69018	-0.5256	10	0.21540	T	0.41	.	0.9188	0.01310	0.2022:0.2774:0.1187:0.4017	.	194;194	P54707-2;P54707	.;AT12A_HUMAN	N	194	ENSP00000218548:T194N;ENSP00000371372:T194N	ENSP00000218548:T194N	T	+	2	0	ATP12A	24162510	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.414000	0.21164	-0.379000	0.07906	-1.107000	0.02091	ACC		0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		A	25264510	C	A	25264510	3	1	447	1	0	0	0	0	1	0	0	0	1122	507	18	3	603	3	ATP12A	13	25264510	Missense_Mutation	SNP	C	TCGA-61-2003-01A-01W-0722-08		25264510	89905368	16	24719											
DDHD1	80821	broad.mit.edu	37	14	53570519	53570519	+	Silent	SNP	C	C	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr14:53570519C>T	ENST00000323669.5	-	2	893	c.894G>A	c.(892-894)caG>caA	p.Q298Q	DDHD1_ENST00000357758.3_Silent_p.Q298Q|DDHD1_ENST00000395606.1_Silent_p.Q298Q	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	298					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q298Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCTAGAGGCTGCCAAGTGC	0.368																																																1	Substitution - coding silent(1)	ovary(1)	14											75	69	71					14																	53570519		2203	4300	6503	52640269	SO:0001819	synonymous_variant	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.894G>A	14.37:g.53570519C>T			52640269	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	37	CCDS53895.1																																																																																				0.368	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			T	53570519	C	T	53570519	2	4	447	1	0	0	0	0	0	0	0	1	4326	796	28	2		2	DDHD1	14	53570519	Silent	SNP	C	TCGA-61-2003-01A-01W-0722-08		53570519	53779021	17	24720											
KIAA1409	57578	broad.mit.edu	37	14	94079195	94079195	+	Silent	SNP	C	C	T	rs567253162		TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr14:94079195C>T	ENST00000393151.2	+	27	3807	c.3807C>T	c.(3805-3807)gaC>gaT	p.D1269D	UNC79_ENST00000553484.1_Silent_p.D1291D|UNC79_ENST00000256339.4_Silent_p.D1092D|UNC79_ENST00000555664.1_Silent_p.D1269D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1269					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1092D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCCAGAAGACGCTGGGATCG	0.507													C|||	1	0.000199681	0	0	5008	,	,		19936	0.001		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	14											109	98	102					14																	94079195		2203	4300	6503	93148948	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3807C>T	14.37:g.94079195C>T			93148948	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.507	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94079195	C	T	94079195	2	4	447	1	0	0	0	0	0	0	0	1	8230	535	19	1		1	KIAA1409	14	94079195	Silent	SNP	C	TCGA-61-2003-01A-01W-0722-08	40508676	94079195	13270345	18	24721											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578406	C	T	7578406	3	4	447	1	0	0	0	0	1	0	0	0	16381	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-61-2003-01A-01W-0722-08		7578406	73616804	19	24722											
TMEM38A	79041	broad.mit.edu	37	19	16790828	16790828	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr19:16790828C>T	ENST00000187762.2	+	2	249	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	53						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.A53V(2)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CACCCCATCGCGTCCTGGCTG	0.602																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	19											54	40	45					19																	16790828		2203	4300	6503	16651828	SO:0001583	missense	79041			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.158C>T	19.37:g.16790828C>T	ENSP00000187762:p.Ala53Val		16651828	A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	19.37	3.813899	0.70912	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	L	0.57536	1.79	0.80722	D	1	D	0.56287	0.975	P	0.52554	0.702	T	0.67313	-0.5702	9	0.46703	T	0.11	-14.3296	17.9316	0.88999	0.0:1.0:0.0:0.0	.	53	Q9H6F2	TM38A_HUMAN	V	53	.	ENSP00000187762:A53V	A	+	2	0	TMEM38A	16651828	1.000000	0.71417	0.380000	0.26093	0.076000	0.17211	7.371000	0.79600	2.474000	0.83562	0.561000	0.74099	GCG		0.602	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		T	16790828	C	T	16790828	3	4	447	1	0	0	0	0	1	0	0	0	16159	768	27	1	164	1	TMEM38A	19	16790828	Missense_Mutation	SNP	C	TCGA-61-2003-01A-01W-0722-08		16790828	42338155	20	24723											
MYH7B	57644	broad.mit.edu	37	20	33568497	33568497	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr20:33568497A>G	ENST00000262873.7	+	6	677	c.585A>G	c.(583-585)atA>atG	p.I195M	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	153	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I195M(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCCCCATATATATGCGGTGG	0.617																																																1	Substitution - Missense(1)	ovary(1)	20											70	78	75					20																	33568497		2115	4240	6355	33032158	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.585A>G	20.37:g.33568497A>G	ENSP00000262873:p.Ile195Met		33032158	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561474	0.45590	.	.	ENSG00000078814	ENST00000262873	D	0.90620	-2.7	4.46	-3.12	0.05282	Myosin head, motor domain (2);	0.000000	0.41823	D	0.000806	D	0.96343	0.8807	H	0.98951	4.38	0.41093	D	0.985619	D	0.67145	0.996	D	0.91635	0.999	D	0.94405	0.7626	10	0.87932	D	0	.	9.83	0.40937	0.1843:0.6154:0.0:0.2003	.	153	A7E2Y1	MYH7B_HUMAN	M	195	ENSP00000262873:I195M	ENSP00000262873:I195M	I	+	3	3	MYH7B	33032158	1.000000	0.71417	0.699000	0.30290	0.024000	0.10985	1.067000	0.30616	-0.302000	0.08869	0.533000	0.62120	ATA		0.617	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		G	33568497	A	G	33568497	3	3	447	1	0	0	0	0	1	0	0	0	10040	439	16	4	607	4	MYH7B	20	33568497	Missense_Mutation	SNP	A	TCGA-61-2003-01A-01W-0722-08		33568497	29457023	21	24724											
TH1L	51497	broad.mit.edu	37	20	57566083	57566083	+	Missense_Mutation	SNP	G	G	A	rs375888011		TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr20:57566083G>A	ENST00000344018.3	+	8	961	c.934G>A	c.(934-936)Gtc>Atc	p.V312I	NELFCD_ENST00000602795.1_Missense_Mutation_p.V321I			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	312					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.V312I(1)									TGACATCACCGTCCTGTTCAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	20						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96	86	89		934	6.1	0.4	20		89	0,8600		0,0,4300	no	missense	TH1L	NM_198976.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	312/591	57566083	1,13005	2203	4300	6503	56999478	SO:0001583	missense	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.934G>A	20.37:g.57566083G>A	ENSP00000342300:p.Val312Ile		56999478	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37		.	.	.	.	.	.	.	.	.	.	G	18.25	3.582815	0.65992	2.27E-4	0.0	ENSG00000101158	ENST00000344018	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	L	0.54323	1.7	0.80722	D	1	D;D	0.64830	0.994;0.985	D;D	0.71184	0.972;0.959	T	0.72947	-0.4137	9	0.42905	T	0.14	-53.0266	20.6452	0.99591	0.0:0.0:1.0:0.0	.	321;312	E1P5H4;Q8IXH7	.;NELFD_HUMAN	I	312	.	ENSP00000342300:V312I	V	+	1	0	TH1L	56999478	1.000000	0.71417	0.397000	0.26308	0.678000	0.39670	9.751000	0.98889	2.885000	0.99019	0.650000	0.86243	GTC		0.552	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		A	57566083	G	A	57566083	3	1	447	1	0	0	0	0	1	0	0	0	15839	1145	40	1	964	1	TH1L	20	57566083	Missense_Mutation	SNP	G	TCGA-61-2003-01A-01W-0722-08	23997586	57566083	5459437	22	24725											
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chr20:61596986G>A	ENST00000370351.4	+	10	1101	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_ENST00000370349.3_Missense_Mutation_p.V318I|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	324					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V324I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652																																																1	Substitution - Missense(1)	ovary(1)	20											157	172	167					20																	61596986		2121	4242	6363	61067431	SO:0001583	missense	63910			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.970G>A	20.37:g.61596986G>A	ENSP00000359376:p.Val324Ile		61067431	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978228	0.02197	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58358	0.34;0.34	5.01	-3.45	0.04781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.461165	0.24022	N	0.042269	T	0.27349	0.0671	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.008;0.006	B;B;B	0.20767	0.031;0.021;0.013	T	0.27536	-1.0071	10	0.11485	T	0.65	.	7.8091	0.29219	0.5318:0.0:0.3637:0.1045	.	344;324;318	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	I	324;318	ENSP00000359376:V324I;ENSP00000359374:V318I	ENSP00000359374:V318I	V	+	1	0	SLC17A9	61067431	0.025000	0.19082	0.000000	0.03702	0.007000	0.05969	-0.146000	0.10250	-1.110000	0.02992	-0.367000	0.07326	GTC		0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		A	61596986	G	A	61596986	3	1	447	1	0	0	0	0	1	0	0	0	14427	1145	40	1	1008	1	SLC17A9	20	61596986	Missense_Mutation	SNP	G	TCGA-61-2003-01A-01W-0722-08	4030903	61596986	1428534	23	24726											
BCORL1	63035	broad.mit.edu	37	X	129156935	129156935	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2003-01A-01W-0722-08	TCGA-61-2003-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	19406227-9802-4b5a-90d1-20b8c475ad53	558ebd94-a734-4314-b9e9-e8bd85991546	g.chrX:129156935G>A	ENST00000218147.7	+	6	3868	c.3671G>A	c.(3670-3672)cGc>cAc	p.R1224H	BCORL1_ENST00000359304.2_Missense_Mutation_p.R1224H|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1224H|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1224H			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1224					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1224H(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTGAGCACCCGCACGCGCAGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											157	134	142					X																	129156935		2203	4300	6503	128984616	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3671G>A	X.37:g.129156935G>A	ENSP00000218147:p.Arg1224His		128984616	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741922	0.89573	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.55413	0.52;0.89;0.57;0.52;0.98	5.88	5.88	0.94601	.	0.000000	0.31123	N	0.008204	T	0.63768	0.2539	L	0.27053	0.805	0.47547	D	0.99945	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66724	-0.5851	10	0.66056	D	0.02	-15.7061	19.1445	0.93459	0.0:0.0:1.0:0.0	.	1224;1224	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	H	1224;1224;1224;1224;824	ENSP00000218147:R1224H;ENSP00000307541:R1224H;ENSP00000352253:R1224H;ENSP00000437775:R1224H;ENSP00000399483:R824H	ENSP00000218147:R1224H	R	+	2	0	BCORL1	128984616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.307000	0.72815	2.471000	0.83476	0.600000	0.82982	CGC		0.488	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		A	129156935	G	A	129156935	3	1	447	1	0	0	0	0	1	0	0	0	1387	1087	38	1	3689	1	BCORL1	23	129156935	Missense_Mutation	SNP	G	TCGA-61-2003-01A-01W-0722-08		129156935	26113625	24	24727											
KANK4	163782	broad.mit.edu	37	1	62739538	62739538	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr1:62739538A>T	ENST00000371153.4	-	3	1616	c.1238T>A	c.(1237-1239)aTg>aAg	p.M413K	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	413						cytoplasm (GO:0005737)		p.M413K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGTGTTCACCATCACGTCCGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											203	173	184					1																	62739538		2203	4300	6503	62512126	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1238T>A	1.37:g.62739538A>T	ENSP00000360195:p.Met413Lys		62512126	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788485	0.31685	.	.	ENSG00000132854	ENST00000371153	T	0.43688	0.94	5.35	-7.14	0.01527	.	1.416120	0.04617	N	0.401349	T	0.33990	0.0882	L	0.51422	1.61	0.09310	N	1	B	0.24092	0.097	B	0.18871	0.023	T	0.26395	-1.0104	10	0.14656	T	0.56	0.0236	14.7139	0.69254	0.1538:0.1189:0.7273:0.0	.	413	Q5T7N3	KANK4_HUMAN	K	413	ENSP00000360195:M413K	ENSP00000360195:M413K	M	-	2	0	KANK4	62512126	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.181000	0.16880	-1.221000	0.02591	-0.379000	0.06801	ATG		0.532	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		T	62739538	A	T	62739538	3	4	448	1	0	0	0	0	1	0	0	0	7979	217	8	5	1781	5	KANK4	1	62739538	Missense_Mutation	SNP	A	TCGA-61-2008-01A-02W-0722-08		62739538	186511083	1	24728											
MCOLN2	255231	broad.mit.edu	37	1	85397198	85397198	+	Silent	SNP	A	A	G			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr1:85397198A>G	ENST00000370608.3	-	12	1456	c.1389T>C	c.(1387-1389)gaT>gaC	p.D463D	MCOLN2_ENST00000284027.5_Silent_p.D435D	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	463					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D463D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CAAACATGTCATCACCGTTGA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	1											71	74	73					1																	85397198		2203	4300	6503	85169786	SO:0001819	synonymous_variant	255231			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1389T>C	1.37:g.85397198A>G			85169786	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Silent	SNP	ENST00000370608.3	37	CCDS30762.1																																																																																				0.378	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		G	85397198	A	G	85397198	2	3	448	1	0	0	0	0	0	0	0	1	9396	214	8	4		4	MCOLN2	1	85397198	Silent	SNP	A	TCGA-61-2008-01A-02W-0722-08	22657660	85397198	163853423	2	24729											
RBM15	64783	broad.mit.edu	37	1	110883715	110883715	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr1:110883715G>C	ENST00000369784.3	+	1	2588	c.1688G>C	c.(1687-1689)gGt>gCt	p.G563A	RBM15_ENST00000602849.1_Missense_Mutation_p.G563A|RBM15_ENST00000487146.2_Missense_Mutation_p.G563A|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	563					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G563R(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTTTGAGGGGTGCTCGGGAT	0.547			T	MKL1	acute megakaryocytic leukemia																																		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	1	Substitution - Missense(1)	ovary(1)	1											56	50	52					1																	110883715		2203	4300	6503	110685238	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1688G>C	1.37:g.110883715G>C	ENSP00000358799:p.Gly563Ala		110685238	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	4.173	0.030604	0.08101	.	.	ENSG00000162775	ENST00000369784	T	0.18338	2.22	4.44	3.53	0.40419	.	0.316936	0.22740	N	0.056207	T	0.03783	0.0107	L	0.36672	1.1	0.32420	N	0.549463	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.001	T	0.32745	-0.9895	10	0.05959	T	0.93	-1.7109	12.1937	0.54284	0.0827:0.0:0.9173:0.0	.	563;563	Q96T37-3;Q96T37	.;RBM15_HUMAN	A	563	ENSP00000358799:G563A	ENSP00000358799:G563A	G	+	2	0	RBM15	110685238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.323000	0.52014	1.092000	0.41356	0.655000	0.94253	GGT		0.547	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		C	110883715	G	C	110883715	3	2	448	1	0	0	0	0	1	0	0	0	13119	1261	44	3	1690	3	RBM15	1	110883715	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	25486517	110883715	138366906	3	24730											
OR10J3	441911	broad.mit.edu	37	1	159284220	159284220	+	Missense_Mutation	SNP	G	G	T	rs562710413		TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr1:159284220G>T	ENST00000332217.5	-	1	229	c.230C>A	c.(229-231)gCc>gAc	p.A77D		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A77D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGGAATGATGGCCACAGTGTA	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											162	155	157					1																	159284220		2203	4300	6503	157550844	SO:0001583	missense	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.230C>A	1.37:g.159284220G>T	ENSP00000331789:p.Ala77Asp		157550844		Missense_Mutation	SNP	ENST00000332217.5	37	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054431	0.36277	.	.	ENSG00000196266	ENST00000332217	T	0.00473	7.18	5.4	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32719	U	0.005729	T	0.00271	0.0008	L	0.60455	1.87	0.25979	N	0.982398	P	0.39831	0.69	P	0.47075	0.536	T	0.40289	-0.9571	10	0.87932	D	0	.	6.7243	0.23348	0.0876:0.0:0.7369:0.1755	.	77	Q5JRS4	O10J3_HUMAN	D	77	ENSP00000331789:A77D	ENSP00000331789:A77D	A	-	2	0	OR10J3	157550844	0.000000	0.05858	0.999000	0.59377	0.484000	0.33280	-0.297000	0.08276	1.511000	0.48818	0.561000	0.74099	GCC		0.488	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			T	159284220	G	T	159284220	3	4	448	1	0	0	0	0	1	0	0	0	10911	1203	42	3	761	3	OR10J3	1	159284220	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	48400505	159284220	89966401	4	24731											
TOR1AIP2	163590	broad.mit.edu	37	1	179820119	179820119	+	Silent	SNP	G	G	C	rs143074105	byFrequency	TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr1:179820119G>C	ENST00000367612.3	-	4	801	c.414C>G	c.(412-414)gcC>gcG	p.A138A	TOR1AIP2_ENST00000609928.1_Silent_p.A138A	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0								p.A138A(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CCTTAGGGAGGGCCACAGAGC	0.547																																																1	Substitution - coding silent(1)	ovary(1)	1											100	96	97					1																	179820119		2203	4300	6503	178086742	SO:0001819	synonymous_variant	163590				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.414C>G	1.37:g.179820119G>C			178086742	Q05BU2	Silent	SNP	ENST00000367612.3	37	CCDS1334.1																																																																																				0.547	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		C	179820119	G	C	179820119	2	2	448	1	0	0	0	0	0	0	0	1	16373	1219	43	3		3	TOR1AIP2	1	179820119	Silent	SNP	G	TCGA-61-2008-01A-02W-0722-08	20535899	179820119	69430502	5	24732											
KIF21B	23046	broad.mit.edu	37	1	200972807	200972807	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr1:200972807C>G	ENST00000422435.2	-	8	1435	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	KIF21B_ENST00000461742.2_Missense_Mutation_p.K373N|KIF21B_ENST00000360529.5_Missense_Mutation_p.K373N|KIF21B_ENST00000332129.2_Missense_Mutation_p.K373N	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	373					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K373N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCACTACCACCTTGTTCTTGA	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											193	148	164					1																	200972807		2203	4300	6503	199239430	SO:0001583	missense	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1119G>C	1.37:g.200972807C>G	ENSP00000411831:p.Lys373Asn		199239430	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	c	17.19	3.325635	0.60743	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.19	3.29	0.37713	Kinesin, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	M	0.86178	2.8	0.58432	D	0.999999	D;D;D;D	0.63880	0.989;0.989;0.969;0.993	P;P;B;P	0.58210	0.688;0.688;0.306;0.835	T	0.79871	-0.1620	10	0.87932	D	0	.	4.6167	0.12430	0.1531:0.6025:0.0:0.2444	.	373;373;373;373	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	N	373	ENSP00000328494:K373N;ENSP00000353724:K373N;ENSP00000433808:K373N;ENSP00000411831:K373N	ENSP00000328494:K373N	K	-	3	2	KIF21B	199239430	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	0.430000	0.21428	0.555000	0.29079	0.645000	0.84053	AAG		0.537	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		G	200972807	C	G	200972807	3	3	448	1	0	0	0	0	1	0	0	0	8289	680	24	3	3863	3	KIF21B	1	200972807	Missense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08	21152688	200972807	48277814	6	24733											
FAM179A	165186	broad.mit.edu	37	2	29240042	29240042	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr2:29240042C>A	ENST00000379558.4	+	9	1418	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	FAM179A_ENST00000403861.2_Missense_Mutation_p.S356Y|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	356								p.S356Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCTCCAAGTCTGCCCGGGAG	0.502																																																1	Substitution - Missense(1)	ovary(1)	2											118	122	121					2																	29240042		2021	4181	6202	29093546	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1067C>A	2.37:g.29240042C>A	ENSP00000368876:p.Ser356Tyr		29093546	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609677	0.66558	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.36340	2.1;1.26	4.75	4.75	0.60458	.	.	.	.	.	T	0.52058	0.1711	L	0.36672	1.1	0.35675	D	0.813599	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.63839	-0.6546	9	0.87932	D	0	.	17.6981	0.88288	0.0:1.0:0.0:0.0	.	356;356	F8W8E4;Q6ZUX3	.;F179A_HUMAN	Y	356	ENSP00000368876:S356Y;ENSP00000384699:S356Y	ENSP00000368876:S356Y	S	+	2	0	FAM179A	29093546	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	2.963000	0.49184	2.334000	0.79466	0.591000	0.81541	TCT		0.502	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		A	29240042	C	A	29240042	3	1	448	1	0	0	0	0	1	0	0	0	5505	913	32	3	1097	3	FAM179A	2	29240042	Missense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08		29240042	213959331	7	24734											
RIF1	55183	broad.mit.edu	37	2	152293856	152293856	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr2:152293856G>C	ENST00000243326.5	+	12	1957	c.1474G>C	c.(1474-1476)Gat>Cat	p.D492H	RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.D492H|RIF1_ENST00000444746.2_Missense_Mutation_p.D492H|RIF1_ENST00000453091.2_Missense_Mutation_p.D492H|RIF1_ENST00000430328.2_Missense_Mutation_p.D492H			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.D492H(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGTTGGAAAAGATGCCCCCGG	0.393																																																1	Substitution - Missense(1)	ovary(1)	2											91	88	89					2																	152293856		2203	4300	6503	152002102	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1474G>C	2.37:g.152293856G>C	ENSP00000243326:p.Asp492His		152002102	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.09|10.09	1.254771|1.254771	0.22965|0.22965	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.64085|.	-0.08;-0.08;-0.08;-0.08;-0.08|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.095236|.	0.64402|.	D|.	0.000001|.	T|T	0.69522|0.69522	0.3120|0.3120	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	P;D|.	0.69078|.	0.892;0.997|.	B;D|.	0.64776|.	0.253;0.929|.	T|T	0.64803|0.64803	-0.6321|-0.6321	10|5	0.37606|.	T|.	0.19|.	-14.2986|-14.2986	19.2552|19.2552	0.93943|0.93943	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	492;492|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	H|T	492|483	ENSP00000390181:D492H;ENSP00000414615:D492H;ENSP00000415691:D492H;ENSP00000243326:D492H;ENSP00000416123:D492H|.	ENSP00000243326:D492H|.	D|R	+|+	1|2	0|0	RIF1|RIF1	152002102|152002102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.022000|0.022000	0.10575|0.10575	7.208000|7.208000	0.77907|0.77907	2.729000|2.729000	0.93468|0.93468	0.460000|0.460000	0.39030|0.39030	GAT|AGA		0.393	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			C	152293856	G	C	152293856	3	2	448	1	0	0	0	0	1	0	0	0	13362	942	33	3	1520	3	RIF1	2	152293856	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	123053814	152293856	90905517	8	24735											
MARS2	92935	broad.mit.edu	37	2	198571020	198571020	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr2:198571020C>G	ENST00000282276.6	+	1	934	c.891C>G	c.(889-891)ttC>ttG	p.F297L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	297					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.F297L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	ATGCTGAGTTCAAATCTTGGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											72	75	74					2																	198571020		2203	4300	6503	198279265	SO:0001583	missense	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.891C>G	2.37:g.198571020C>G	ENSP00000282276:p.Phe297Leu		198279265	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	C	7.555	0.663494	0.14710	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.43294	0.95	4.59	1.67	0.24075	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.446016	0.23991	N	0.042562	T	0.21801	0.0525	N	0.12961	0.28	0.09310	N	1	B	0.11235	0.004	B	0.17098	0.017	T	0.12319	-1.0552	10	0.46703	T	0.11	-17.7528	4.8074	0.13326	0.0:0.5051:0.2817:0.2132	.	297	Q96GW9	SYMM_HUMAN	L	297;224	ENSP00000282276:F297L	ENSP00000282276:F297L	F	+	3	2	MARS2	198279265	0.001000	0.12720	0.984000	0.44739	0.998000	0.95712	0.002000	0.13061	0.569000	0.29329	0.655000	0.94253	TTC		0.532	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		G	198571020	C	G	198571020	3	3	448	1	0	0	0	0	1	0	0	0	9317	825	29	3	893	3	MARS2	2	198571020	Missense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08	46277164	198571020	44628353	9	24736											
UGT1A9	54600	broad.mit.edu	37	2	234580975	234580975	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr2:234580975A>T	ENST00000354728.4	+	1	477	c.395A>T	c.(394-396)aAa>aTa	p.K132I	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.K132I|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	132					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.K132I(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AAAGACAAAAAATTAGTAGAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	2											100	102	102					2																	234580975		2203	4300	6503	234245714	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.395A>T	2.37:g.234580975A>T	ENSP00000346768:p.Lys132Ile		234245714	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115582	0.37339	.	.	ENSG00000241119	ENST00000354728	T	0.61158	0.13	3.41	3.41	0.39046	.	.	.	.	.	T	0.76407	0.3983	M	0.85197	2.74	0.09310	N	1	D;D	0.63046	0.992;0.992	D;D	0.69142	0.962;0.962	T	0.66408	-0.5931	9	0.72032	D	0.01	.	12.3465	0.55124	1.0:0.0:0.0:0.0	.	132;132	Q5DSZ5;O60656	.;UD19_HUMAN	I	132	ENSP00000346768:K132I	ENSP00000346768:K132I	K	+	2	0	UGT1A9	234245714	0.578000	0.26717	0.024000	0.17045	0.502000	0.33828	3.466000	0.53071	1.552000	0.49463	0.362000	0.22060	AAA		0.323	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		T	234580975	A	T	234580975	3	4	448	1	0	0	0	0	1	0	0	0	16952	14	1	5	397	5	UGT1A9	2	234580975	Missense_Mutation	SNP	A	TCGA-61-2008-01A-02W-0722-08	36009955	234580975	8618398	10	24737											
SCLY	51540	broad.mit.edu	37	2	239003059	239003059	+	Splice_Site	SNP	A	A	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr2:239003059A>C	ENST00000555827.1	+	10	1069		c.e10-1		SCLY_ENST00000422984.2_Splice_Site|SCLY_ENST00000429612.2_Splice_Site|SCLY_ENST00000254663.6_Splice_Site			Q96I15	SCLY_HUMAN	selenocysteine lyase						cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TATTTTTTTCAGGCTGAATTC	0.458																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)											1	Unknown(1)	ovary(1)	2											77	87	83					2																	239003059		2203	4300	6503	238667798	SO:0001630	splice_region_variant	51540			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.1006-1A>C	2.37:g.239003059A>C			238667798	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Splice_Site	SNP	ENST00000555827.1	37		.	.	.	.	.	.	.	.	.	.	a	8.068	0.769658	0.15983	.	.	ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000422984;ENST00000412508;ENST00000429612;ENST00000437134;ENST00000450965;ENST00000433750	.	.	.	4.83	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7423	0.34564	0.8311:0.0:0.0:0.1689	.	.	.	.	.	-1	.	.	.	+	.	.	SCLY	238667798	1.000000	0.71417	0.696000	0.30242	0.067000	0.16453	5.279000	0.65597	0.673000	0.31224	0.492000	0.49549	.		0.458	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	Intron	C	239003059	A	C	239003059	5	2	448	1	0	0	0	0	0	0	1	0	13910	202	7	5	1042	5	SCLY	2	239003059	Splice_Site	SNP	A	TCGA-61-2008-01A-02W-0722-08	4422084	239003059	4196314	11	24738											
EPHB1	2047	broad.mit.edu	37	3	134670615	134670615	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr3:134670615G>A	ENST00000398015.3	+	3	896	c.526G>A	c.(526-528)Gct>Act	p.A176T	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	176	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.A176T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTTTTACCTCGCTTTTCAGGA	0.463																																																2	Substitution - Missense(2)	ovary(2)	3											257	246	250					3																	134670615		1915	4137	6052	136153305	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.526G>A	3.37:g.134670615G>A	ENSP00000381097:p.Ala176Thr		136153305	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073367	0.94000	.	.	ENSG00000154928	ENST00000398015	T	0.23147	1.92	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70350	-0.4896	9	.	.	.	.	19.3897	0.94576	0.0:0.0:1.0:0.0	.	176	P54762	EPHB1_HUMAN	T	176	ENSP00000381097:A176T	.	A	+	1	0	EPHB1	136153305	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	9.869000	0.99810	2.578000	0.87016	0.655000	0.94253	GCT		0.463	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		A	134670615	G	A	134670615	3	1	448	1	0	0	0	0	1	0	0	0	5174	1087	38	1	536	1	EPHB1	3	134670615	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08		134670615	63351815	12	24739											
NLGN1	22871	broad.mit.edu	37	3	173525589	173525589	+	Missense_Mutation	SNP	G	G	C	rs142026432		TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr3:173525589G>C	ENST00000457714.1	+	4	1042	c.613G>C	c.(613-615)Gtc>Ctc	p.V205L	NLGN1_ENST00000361589.4_Missense_Mutation_p.V205L|NLGN1_ENST00000401917.3_Missense_Mutation_p.V245L|NLGN1_ENST00000545397.1_Missense_Mutation_p.V205L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	222					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.V205L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAATGTGATCGTCATCACAGT	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											164	155	158					3																	173525589		2203	4300	6503	175008283	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.613G>C	3.37:g.173525589G>C	ENSP00000392500:p.Val205Leu		175008283	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	35	5.485214	0.96323	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71934	-0.29;-0.29;-0.61;-0.29;-0.29	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000003	T	0.82176	0.4980	L	0.58969	1.84	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.70016	0.967;0.873	T	0.82458	-0.0447	10	0.54805	T	0.06	.	19.2403	0.93879	0.0:0.0:1.0:0.0	.	245;205	D2X2H5;Q8N2Q7-2	.;.	L	205;205;245;205;245	ENSP00000392500:V205L;ENSP00000354541:V205L;ENSP00000410374:V245L;ENSP00000441108:V205L;ENSP00000385750:V245L	ENSP00000354541:V205L	V	+	1	0	NLGN1	175008283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.027000	0.88791	2.555000	0.86185	0.557000	0.71058	GTC		0.398	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		C	173525589	G	C	173525589	3	2	448	1	0	0	0	0	1	0	0	0	10461	1145	40	3	619	3	NLGN1	3	173525589	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	38854974	173525589	24496841	13	24740											
BDH1	622	broad.mit.edu	37	3	197273238	197273238	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr3:197273238C>A	ENST00000392378.2	-	2	387	c.77G>T	c.(76-78)gGa>gTa	p.G26V	BDH1_ENST00000441275.1_Intron|BDH1_ENST00000358186.2_Missense_Mutation_p.G26V|BDH1_ENST00000392379.1_Missense_Mutation_p.G26V	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	26					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)	p.G26V(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TTACCTTGCTCCATTTTCTCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	3											126	122	124					3																	197273238		2203	4300	6503	198757635	SO:0001583	missense	622			M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.77G>T	3.37:g.197273238C>A	ENSP00000376183:p.Gly26Val		198757635	D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	c	11.81	1.750858	0.31046	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000432819;ENST00000431056;ENST00000445160	T;T;T;D;D	0.86230	-1.27;-1.27;-1.27;-2.09;-1.71	4.8	3.92	0.45320	.	0.211052	0.48767	D	0.000162	T	0.76941	0.4058	L	0.29908	0.895	0.45962	D	0.99878	B	0.34103	0.437	B	0.26693	0.072	T	0.76372	-0.2983	10	0.56958	D	0.05	.	9.3334	0.38036	0.0:0.8986:0.0:0.1014	.	26	Q02338	BDH_HUMAN	V	26	ENSP00000376183:G26V;ENSP00000350914:G26V;ENSP00000376184:G26V;ENSP00000409849:G26V;ENSP00000396149:G26V	ENSP00000350914:G26V	G	-	2	0	BDH1	198757635	0.012000	0.17670	0.636000	0.29352	0.515000	0.34225	0.666000	0.25097	1.341000	0.45600	0.645000	0.84053	GGA		0.562	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		A	197273238	C	A	197273238	3	1	448	1	0	0	0	0	1	0	0	0	1390	855	30	3	978	3	BDH1	3	197273238	Missense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08	23747649	197273238	749192	14	24741											
SEC24B	10427	broad.mit.edu	37	4	110427528	110427528	+	Silent	SNP	G	G	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr4:110427528G>A	ENST00000265175.5	+	7	1588	c.1533G>A	c.(1531-1533)ttG>ttA	p.L511L	SEC24B_ENST00000504968.2_Silent_p.L541L|SEC24B_ENST00000399100.2_Silent_p.L476L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	511					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.L476L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TAGGAGGATTGAGTCTTCAGA	0.388																																																1	Substitution - coding silent(1)	ovary(1)	4											109	103	105					4																	110427528		1884	4118	6002	110646977	SO:0001819	synonymous_variant	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1533G>A	4.37:g.110427528G>A			110646977	B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	CCDS47124.1																																																																																				0.388	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			A	110427528	G	A	110427528	2	1	448	1	0	0	0	0	0	0	0	1	13998	1281	45	2		2	SEC24B	4	110427528	Silent	SNP	G	TCGA-61-2008-01A-02W-0722-08		110427528	80726748	15	24742											
BBS7	55212	broad.mit.edu	37	4	122770081	122770081	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr4:122770081C>G	ENST00000264499.4	-	9	1035	c.852G>C	c.(850-852)atG>atC	p.M284I	BBS7_ENST00000506636.1_Missense_Mutation_p.M284I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	284					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.M284I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTCAGACAACATCTAAAAAA	0.363									Bardet-Biedl syndrome																																							1	Substitution - Missense(1)	ovary(1)	4											99	100	100					4																	122770081		2203	4300	6503	122989531	SO:0001583	missense	55212	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.852G>C	4.37:g.122770081C>G	ENSP00000264499:p.Met284Ile		122989531	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	8.320	0.824053	0.16678	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.91180	-2.8;-2.8	5.45	0.595	0.17490	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.617107	0.17484	N	0.172593	T	0.74397	0.3711	N	0.08118	0	0.27700	N	0.94583	B	0.02656	0.0	B	0.01281	0.0	T	0.62258	-0.6892	10	0.45353	T	0.12	-0.7374	0.5741	0.00701	0.1879:0.2163:0.248:0.3478	.	284	Q8IWZ6	BBS7_HUMAN	I	284	ENSP00000264499:M284I;ENSP00000423626:M284I	ENSP00000264499:M284I	M	-	3	0	BBS7	122989531	0.000000	0.05858	0.879000	0.34478	0.271000	0.26615	-1.904000	0.01593	0.031000	0.15407	0.591000	0.81541	ATG		0.363	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			G	122770081	C	G	122770081	3	3	448	1	0	0	0	0	1	0	0	0	1341	478	17	3	1344	3	BBS7	4	122770081	Missense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08	12342553	122770081	68384195	16	24743											
NNT	23530	broad.mit.edu	37	5	43656057	43656057	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr5:43656057A>T	ENST00000264663.5	+	15	2396	c.2175A>T	c.(2173-2175)gaA>gaT	p.E725D	NNT_ENST00000344920.4_Missense_Mutation_p.E725D|NNT_ENST00000512996.2_Missense_Mutation_p.E594D	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	725					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.E725D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ACATTATAGAATATCCACATT	0.438																																																1	Substitution - Missense(1)	ovary(1)	5											124	112	116					5																	43656057		2203	4300	6503	43691814	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2175A>T	5.37:g.43656057A>T	ENSP00000264663:p.Glu725Asp		43691814	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	8.742	0.919130	0.17982	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91577	-2.87;-2.87;-2.87	5.91	-2.99	0.05497	.	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	N	0.01048	-1.04	0.54753	D	0.999982	B	0.23316	0.083	B	0.19666	0.026	T	0.62105	-0.6924	10	0.02654	T	1	-23.352	15.2307	0.73386	0.4142:0.0:0.5858:0.0	.	725	Q13423	NNTM_HUMAN	D	240;725;725;594	ENSP00000264663:E725D;ENSP00000343873:E725D;ENSP00000426343:E594D	ENSP00000264663:E725D	E	+	3	2	NNT	43691814	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	0.728000	0.26013	-0.245000	0.09625	0.533000	0.62120	GAA		0.438	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		T	43656057	A	T	43656057	3	4	448	1	0	0	0	0	1	0	0	0	10510	98	4	5	2229	5	NNT	5	43656057	Missense_Mutation	SNP	A	TCGA-61-2008-01A-02W-0722-08		43656057	137259203	17	24744											
GTF2H4	2968	broad.mit.edu	37	6	30880175	30880175	+	Silent	SNP	G	G	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr6:30880175G>T	ENST00000259895.4	+	11	1252	c.1029G>T	c.(1027-1029)gtG>gtT	p.V343V	GTF2H4_ENST00000376316.2_Silent_p.V343V|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000416670.2_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	343					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V343V(1)		breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACATGGTGGTGGCGCAGGTGA	0.587								Nucleotide excision repair (NER)																																								1	Substitution - coding silent(1)	ovary(1)	6											122	112	115					6																	30880175		1511	2709	4220	30988154	SO:0001819	synonymous_variant	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.1029G>T	6.37:g.30880175G>T			30988154	B4DTJ5|Q76KU4	Silent	SNP	ENST00000259895.4	37	CCDS34386.1																																																																																				0.587	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		T	30880175	G	T	30880175	2	4	448	1	0	0	0	0	0	0	0	1	6865	1335	47	3		3	GTF2H4	6	30880175	Silent	SNP	G	TCGA-61-2008-01A-02W-0722-08		30880175	140234892	18	24745											
DOPEY1	23033	broad.mit.edu	37	6	83863932	83863932	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr6:83863932T>A	ENST00000349129.2	+	33	6683	c.6423T>A	c.(6421-6423)caT>caA	p.H2141Q	DOPEY1_ENST00000237163.5_Missense_Mutation_p.H2071Q|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.H2132Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2141					protein transport (GO:0015031)			p.H2141Q(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGATGACACATGATAAAACAA	0.328																																																1	Substitution - Missense(1)	ovary(1)	6											140	136	138					6																	83863932		2203	4300	6503	83920651	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6423T>A	6.37:g.83863932T>A	ENSP00000195654:p.His2141Gln		83920651	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426127	0.83667	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.28069	1.63;1.93	5.37	5.37	0.77165	.	0.113710	0.64402	D	0.000003	T	0.36524	0.0970	L	0.52126	1.63	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.77557	0.99;0.99;0.981	T	0.15694	-1.0428	10	0.42905	T	0.14	.	11.3721	0.49707	0.0:0.0731:0.0:0.9269	.	2032;2132;2141	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Q	2141;2071;2071	ENSP00000195654:H2141Q;ENSP00000237163:H2071Q	ENSP00000237163:H2071Q	H	+	3	2	DOPEY1	83920651	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.768000	0.62293	2.044000	0.60594	0.455000	0.32223	CAT		0.328	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		A	83863932	T	A	83863932	3	1	448	1	0	0	0	0	1	0	0	0	4707	1461	51	5	6545	5	DOPEY1	6	83863932	Missense_Mutation	SNP	T	TCGA-61-2008-01A-02W-0722-08	52983757	83863932	87251135	19	24746											
SYNE1	23345	broad.mit.edu	37	6	152558073	152558073	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr6:152558073T>C	ENST00000367255.5	-	109	20679	c.20078A>G	c.(20077-20079)cAt>cGt	p.H6693R	SYNE1_ENST00000265368.4_Missense_Mutation_p.H6693R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H6622R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H6622R|SYNE1_ENST00000356820.4_Missense_Mutation_p.H1217R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H6305R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6693					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.H6693R(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCATCCAGATGGGACCACGT	0.512										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											82	64	70					6																	152558073		2203	4300	6503	152599766	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20078A>G	6.37:g.152558073T>C	ENSP00000356224:p.His6693Arg		152599766	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	2.326	-0.354463	0.05173	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.48	1.63	0.23807	.	0.349076	0.25175	N	0.032570	T	0.04543	0.0124	L	0.33137	0.985	0.26863	N	0.967903	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.42189	-0.9466	10	0.05833	T	0.94	.	4.2818	0.10836	0.1357:0.2456:0.0:0.6187	.	6693;6693;6622	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	6693;6622;6693;6622;6305;1217	ENSP00000356224:H6693R;ENSP00000396024:H6622R;ENSP00000265368:H6693R;ENSP00000390975:H6622R;ENSP00000341887:H6305R;ENSP00000349276:H1217R	ENSP00000265368:H6693R	H	-	2	0	SYNE1	152599766	0.675000	0.27558	0.192000	0.23308	0.244000	0.25665	0.558000	0.23469	0.034000	0.15491	-0.256000	0.11100	CAT		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152558073	T	C	152558073	3	2	448	1	0	0	0	0	1	0	0	0	15445	1464	51	4	6540	4	SYNE1	6	152558073	Missense_Mutation	SNP	T	TCGA-61-2008-01A-02W-0722-08	68694141	152558073	18556994	20	24747											
WDR27	253769	broad.mit.edu	37	6	170059616	170059616	+	Splice_Site	SNP	T	T	G			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr6:170059616T>G	ENST00000448612.1	-	11	1239		c.e11-2		WDR27_ENST00000423258.1_Splice_Site|WDR27_ENST00000333572.6_Splice_Site|WDR27_ENST00000546525.1_Splice_Site	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27							nucleus (GO:0005634)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TCTGGAAATCTTCAGTTGAGC	0.597																																																1	Unknown(1)	ovary(1)	6											41	51	48					6																	170059616		2173	4279	6452	169801541	SO:0001630	splice_region_variant	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1130-2A>C	6.37:g.170059616T>G			169801541	A5PLM8|C9JGV0|Q5T066	Splice_Site	SNP	ENST00000448612.1	37	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	T	7.656	0.683910	0.14907	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258;ENST00000441385	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.543	0.50677	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR27	169801541	1.000000	0.71417	0.313000	0.25210	0.006000	0.05464	3.640000	0.54350	1.928000	0.55862	0.379000	0.24179	.		0.597	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	Intron	G	170059616	T	G	170059616	5	3	448	1	0	0	0	0	0	0	1	0	17284	1623	56	5	1505	5	WDR27	6	170059616	Splice_Site	SNP	T	TCGA-61-2008-01A-02W-0722-08	17501543	170059616	1055451	21	24748											
HGF	3082	broad.mit.edu	37	7	81358974	81358974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr7:81358974C>T	ENST00000222390.5	-	8	1213	c.987G>A	c.(985-987)tgG>tgA	p.W329*	HGF_ENST00000457544.2_Nonsense_Mutation_p.W324*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	329	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.W329*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACTGAGAATCCCAACGCTGAC	0.443																																																1	Substitution - Nonsense(1)	ovary(1)	7											161	147	151					7																	81358974		2203	4300	6503	81196910	SO:0001587	stop_gained	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.987G>A	7.37:g.81358974C>T	ENSP00000222390:p.Trp329*		81196910	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	38	6.937741	0.97948	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9767	0.97312	0.0:1.0:0.0:0.0	.	.	.	.	X	329;324	.	ENSP00000222390:W329X	W	-	3	0	HGF	81196910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.913000	0.75759	2.702000	0.92279	0.655000	0.94253	TGG		0.443	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		T	81358974	C	T	81358974	4	4	448	1	0	0	0	0	0	1	0	0	7085	624	22	2	1243	2	HGF	7	81358974	Nonsense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08		81358974	77779689	22	24749											
CNTNAP2	26047	broad.mit.edu	37	7	147336299	147336299	+	Missense_Mutation	SNP	G	G	A	rs374920791		TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr7:147336299G>A	ENST00000361727.3	+	13	2515	c.1999G>A	c.(1999-2001)Gcc>Acc	p.A667T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	667	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.A667T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGTTTACAGCGCCTCCATGGA	0.502										HNSCC(39;0.1)																																						1	Substitution - Missense(1)	ovary(1)	7						G	THR/ALA	0,4406		0,0,2203	148	126	133		1999	5.7	1	7		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	667/1332	147336299	1,13005	2203	4300	6503	146967232	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1999G>A	7.37:g.147336299G>A	ENSP00000354778:p.Ala667Thr		146967232	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959480	0.74016	0.0	1.16E-4	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.15487	2.42;2.42	5.74	5.74	0.90152	.	0.065352	0.64402	D	0.000013	T	0.24353	0.0590	M	0.78344	2.41	0.80722	D	1	B	0.34226	0.443	B	0.25291	0.059	T	0.03060	-1.1077	10	0.51188	T	0.08	.	18.8598	0.92267	0.0:0.0:1.0:0.0	.	667	Q9UHC6	CNTP2_HUMAN	T	667;58	ENSP00000354778:A667T;ENSP00000392208:A58T	ENSP00000354778:A667T	A	+	1	0	CNTNAP2	146967232	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	6.803000	0.75180	2.873000	0.98535	0.561000	0.74099	GCC		0.502	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	147336299	G	A	147336299	3	1	448	1	0	0	0	0	1	0	0	0	3647	1087	38	1	2049	1	CNTNAP2	7	147336299	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	65977325	147336299	11802364	23	24750											
LONRF1	91694	broad.mit.edu	37	8	12580616	12580616	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr8:12580616G>T	ENST00000398246.3	-	12	2380	c.2311C>A	c.(2311-2313)Caa>Aaa	p.Q771K	LONRF1_ENST00000533751.1_Missense_Mutation_p.Q414K|LONRF1_ENST00000525024.1_Missense_Mutation_p.Q197K	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	771							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.Q771K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TACTTAGATTGGTCTCTAGAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	8											118	120	120					8																	12580616		1886	4103	5989	12624987	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2311C>A	8.37:g.12580616G>T	ENSP00000381298:p.Gln771Lys		12624987	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431438	0.62844	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	D;T;T	0.84800	-1.9;-1.3;-1.4	5.06	4.18	0.49190	.	0.198081	0.46442	D	0.000284	T	0.81754	0.4889	L	0.43152	1.355	0.46798	D	0.999208	D;P	0.54772	0.968;0.877	P;B	0.47915	0.561;0.358	T	0.78142	-0.2319	10	0.12766	T	0.61	-14.7447	14.0018	0.64437	0.0743:0.0:0.9257:0.0	.	760;771	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	K	771;197;414;374	ENSP00000381298:Q771K;ENSP00000432130:Q414K;ENSP00000433327:Q374K	ENSP00000381298:Q771K	Q	-	1	0	LONRF1	12624987	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.633000	0.74286	1.428000	0.47296	0.655000	0.94253	CAA		0.438	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		T	12580616	G	T	12580616	3	4	448	1	0	0	0	0	1	0	0	0	8894	1357	47	3	14	3	LONRF1	8	12580616	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08		12580616	133783406	24	24751											
TOPORS	10210	broad.mit.edu	37	9	32543969	32543969	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr9:32543969G>T	ENST00000360538.2	-	3	670	c.554C>A	c.(553-555)aCa>aAa	p.T185K	TOPORS_ENST00000379858.1_Missense_Mutation_p.T120K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	185	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T185K(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCGTTCCCTTGTCAGAGTTGT	0.463																																																1	Substitution - Missense(1)	ovary(1)	9											135	116	122					9																	32543969		2203	4300	6503	32533969	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.554C>A	9.37:g.32543969G>T	ENSP00000353735:p.Thr185Lys		32533969	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930981	0.34096	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18960	2.18;2.18	5.21	4.26	0.50523	.	0.000000	0.47455	D	0.000234	T	0.35098	0.0920	L	0.55481	1.735	0.39908	D	0.973983	D	0.65815	0.995	P	0.57152	0.814	T	0.15150	-1.0447	10	0.66056	D	0.02	-15.1247	14.3199	0.66479	0.0:0.25:0.75:0.0	.	185	Q9NS56	TOPRS_HUMAN	K	185;120	ENSP00000353735:T185K;ENSP00000369187:T120K	ENSP00000353735:T185K	T	-	2	0	TOPORS	32533969	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	6.113000	0.71553	2.587000	0.87381	0.563000	0.77884	ACA		0.463	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		T	32543969	G	T	32543969	3	4	448	1	0	0	0	0	1	0	0	0	16370	1377	48	3	2587	3	TOPORS	9	32543969	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08		32543969	108669462	25	24752											
COL15A1	1306	broad.mit.edu	37	9	101829309	101829309	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr9:101829309G>T	ENST00000375001.3	+	40	4220	c.3797G>T	c.(3796-3798)aGg>aTg	p.R1266M		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1266	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.R1266M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACCATTGTGAGGAAAGCAGAG	0.483																																																1	Substitution - Missense(1)	ovary(1)	9											156	130	139					9																	101829309		2203	4300	6503	100869130	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3797G>T	9.37:g.101829309G>T	ENSP00000364140:p.Arg1266Met		100869130	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441011	0.63067	.	.	ENSG00000204291	ENST00000375001	T	0.56941	0.43	5.96	5.96	0.96718	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.187439	0.53938	D	0.000047	T	0.76047	0.3933	M	0.83774	2.66	0.53005	D	0.999966	D	0.89917	1.0	D	0.75020	0.985	T	0.77451	-0.2583	10	0.62326	D	0.03	-22.5878	19.1934	0.93677	0.0:0.0:1.0:0.0	.	1266	P39059	COFA1_HUMAN	M	1266	ENSP00000364140:R1266M	ENSP00000364140:R1266M	R	+	2	0	COL15A1	100869130	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.795000	0.62489	2.832000	0.97577	0.655000	0.94253	AGG		0.483	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		T	101829309	G	T	101829309	3	4	448	1	0	0	0	0	1	0	0	0	3672	1000	35	3	3955	3	COL15A1	9	101829309	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	69285340	101829309	39384122	26	24753											
BAT2L1	84726	broad.mit.edu	37	9	134308049	134308049	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr9:134308049C>A	ENST00000357304.4	+	2	216	c.161C>A	c.(160-162)gCc>gAc	p.A54D	PRRC2B_ENST00000405995.1_Missense_Mutation_p.A54D|PRRC2B_ENST00000458550.1_Missense_Mutation_p.A54D	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	54							poly(A) RNA binding (GO:0044822)	p.A54D(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTTGCTGCAGCCCGGCGCATG	0.527																																																1	Substitution - Missense(1)	ovary(1)	9											62	69	67					9																	134308049		1951	4167	6118	133297870	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.161C>A	9.37:g.134308049C>A	ENSP00000349856:p.Ala54Asp		133297870	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555034	0.96514	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.28666	1.6;1.6;1.6	6.17	6.17	0.99709	BAT2, N-terminal (1);	0.000000	0.39909	U	0.001225	T	0.59729	0.2215	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58880	-0.7558	10	0.87932	D	0	-8.9632	19.8676	0.96824	0.0:1.0:0.0:0.0	.	54	Q5JSZ5	PRC2B_HUMAN	D	54	ENSP00000384606:A54D;ENSP00000349856:A54D;ENSP00000398853:A54D	ENSP00000349856:A54D	A	+	2	0	PRRC2B	133297870	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCC		0.527	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134308049	C	A	134308049	3	1	448	1	0	0	0	0	1	0	0	0	1320	739	26	3	167	3	BAT2L1	9	134308049	Missense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08	32478740	134308049	6905382	27	24754											
CUL2	8453	broad.mit.edu	37	10	35317783	35317783	+	Silent	SNP	T	T	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr10:35317783T>C	ENST00000374748.1	-	17	1885	c.1572A>G	c.(1570-1572)tcA>tcG	p.S524S	CUL2_ENST00000374749.3_Silent_p.S524S|CUL2_ENST00000602371.1_Silent_p.S467S|CUL2_ENST00000374742.1_Silent_p.S524S|CUL2_ENST00000374751.3_Silent_p.S524S|CUL2_ENST00000537177.1_Silent_p.S543S|CUL2_ENST00000374746.1_Silent_p.S524S			Q13617	CUL2_HUMAN	cullin 2	524					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.S524S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CAAACGTAGATGAAGGAGCCT	0.318																																																1	Substitution - coding silent(1)	ovary(1)	10											43	45	44					10																	35317783		2203	4300	6503	35357789	SO:0001819	synonymous_variant	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1572A>G	10.37:g.35317783T>C			35357789	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Silent	SNP	ENST00000374748.1	37	CCDS7179.1																																																																																				0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		C	35317783	T	C	35317783	2	2	448	1	0	0	0	0	0	0	0	1	4055	1451	51	4		4	CUL2	10	35317783	Silent	SNP	T	TCGA-61-2008-01A-02W-0722-08		35317783	100216964	28	24755											
ERCC6	2074	broad.mit.edu	37	10	50738887	50738887	+	Splice_Site	SNP	C	C	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr10:50738887C>A	ENST00000355832.5	-	3	501		c.e3-1		ERCC6-PGBD3_ENST00000515869.1_Splice_Site|PGBD3_ENST00000603152.1_Splice_Site|ERCC6-PGBD3_ENST00000447839.2_Splice_Site	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CGTACATGACCTGAAAAATAA	0.328								Direct reversal of damage;Nucleotide excision repair (NER)																																								0			10											119	112	114					10																	50738887		2202	4299	6501	50408893	SO:0001630	splice_region_variant	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.423-1G>T	10.37:g.50738887C>A			50408893	D3DX94|Q5W0L9	Splice_Site	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964278	0.74131	.	.	ENSG00000225830;ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000462247;ENST00000515869;ENST00000447839	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.241	0.93883	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERCC6;RP11-123B3.6	50408893	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.311000	0.78958	2.556000	0.86216	0.557000	0.71058	.		0.328	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	Intron	A	50738887	C	A	50738887	5	1	448	1	0	0	0	0	0	0	1	0	5217	695	24	3	4135	3	ERCC6	10	50738887	Splice_Site	SNP	C	TCGA-61-2008-01A-02W-0722-08	15421104	50738887	84795860	29	24756											
ATRNL1	26033	broad.mit.edu	37	10	117026310	117026310	+	Silent	SNP	C	C	T	rs267602377		TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr10:117026310C>T	ENST00000355044.3	+	12	1935	c.1809C>T	c.(1807-1809)ctC>ctT	p.L603L		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	603					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.L603L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTAGTGTACTCCTTAATGATA	0.333																																																1	Substitution - coding silent(1)	ovary(1)	10											78	85	83					10																	117026310		2203	4300	6503	117016300	SO:0001819	synonymous_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1809C>T	10.37:g.117026310C>T			117016300	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																				0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		T	117026310	C	T	117026310	2	4	448	1	0	0	0	0	0	0	0	1	1207	842	30	2		2	ATRNL1	10	117026310	Silent	SNP	C	TCGA-61-2008-01A-02W-0722-08	66287423	117026310	18508437	30	24757											
OS9	10956	broad.mit.edu	37	12	58112052	58112052	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr12:58112052G>C	ENST00000315970.7	+	11	1299	c.1258G>C	c.(1258-1260)Gat>Cat	p.D420H	RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Missense_Mutation_p.D368H|OS9_ENST00000439210.2_Missense_Mutation_p.D361H|OS9_ENST00000389142.5_Missense_Mutation_p.D420H|OS9_ENST00000389146.6_Missense_Mutation_p.D420H|OS9_ENST00000551035.1_Missense_Mutation_p.D388H|OS9_ENST00000257966.8_Missense_Mutation_p.D421H|OS9_ENST00000413095.2_Missense_Mutation_p.D214H|OS9_ENST00000552285.1_Missense_Mutation_p.D420H	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	420	Asp/Glu-rich (acidic).				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.D420H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ggaggatgaggatgaggatga	0.542																																																1	Substitution - Missense(1)	ovary(1)	12											253	212	226					12																	58112052		2203	4300	6503	56398319	SO:0001583	missense	10956			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1258G>C	12.37:g.58112052G>C	ENSP00000318165:p.Asp420His		56398319	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304143	0.23736	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.32753	1.82;1.73;1.89;1.88;1.44;1.77;1.78;1.76;1.9	3.41	0.823	0.18812	.	0.819619	0.10694	N	0.644857	T	0.33440	0.0863	N	0.24115	0.695	0.09310	N	1	D;P;D;P;B;P;P;P	0.71674	0.966;0.801;0.998;0.771;0.38;0.661;0.661;0.814	P;P;D;P;B;B;B;P	0.68943	0.62;0.742;0.961;0.632;0.332;0.429;0.429;0.534	T	0.14587	-1.0467	10	0.52906	T	0.07	.	4.1068	0.10040	0.2798:0.2051:0.5151:0.0	.	361;388;214;421;420;420;420;420	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	H	420;420;361;420;214;388;421;368;420	ENSP00000450010:D420H;ENSP00000318165:D420H;ENSP00000407360:D361H;ENSP00000373798:D420H;ENSP00000413112:D214H;ENSP00000447866:D388H;ENSP00000257966:D421H;ENSP00000389632:D368H;ENSP00000373794:D420H	ENSP00000257966:D421H	D	+	1	0	OS9	56398319	0.785000	0.28726	0.020000	0.16555	0.305000	0.27757	0.409000	0.21082	0.219000	0.20840	0.467000	0.42956	GAT		0.542	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		C	58112052	G	C	58112052	3	2	448	1	0	0	0	0	1	0	0	0	11272	1174	41	3	1300	3	OS9	12	58112052	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08		58112052	75739843	31	24758											
ATP12A	479	broad.mit.edu	37	13	25274938	25274938	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr13:25274938G>T	ENST00000381946.3	+	13	1926	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Missense_Mutation_p.D593Y			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	587					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.D587Y(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CTACTCATTTGACATAGACGC	0.463																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - Missense(1)	ovary(1)	13											134	123	127					13																	25274938		2203	4300	6503	24172938	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1759G>T	13.37:g.25274938G>T	ENSP00000371372:p.Asp587Tyr		24172938	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978242	0.53720	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.81499	-1.5;-1.5	6.17	5.32	0.75619	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.063239	0.64402	D	0.000005	D	0.88713	0.6511	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.89063	0.3464	10	0.87932	D	0	.	12.5938	0.56456	0.0785:0.0:0.9215:0.0	.	593;587	P54707-2;P54707	.;AT12A_HUMAN	Y	593;587	ENSP00000218548:D593Y;ENSP00000371372:D587Y	ENSP00000218548:D593Y	D	+	1	0	ATP12A	24172938	1.000000	0.71417	0.992000	0.48379	0.014000	0.08584	7.908000	0.87438	2.941000	0.99782	0.655000	0.94253	GAC		0.463	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		T	25274938	G	T	25274938	3	4	448	1	0	0	0	0	1	0	0	0	1122	1290	45	3	1827	3	ATP12A	13	25274938	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08		25274938	89894940	32	24759											
GOLGA5	9950	broad.mit.edu	37	14	93282749	93282749	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr14:93282749C>T	ENST00000163416.2	+	7	1730	c.1474C>T	c.(1474-1476)Ctc>Ttc	p.L492F	GOLGA5_ENST00000355976.2_Missense_Mutation_p.L492F	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	492					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.L492F(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GATACATCAGCTCAGATCCGA	0.468			T	RET	papillary thyroid																																		Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	1	Substitution - Missense(1)	ovary(1)	14											107	103	105					14																	93282749		2203	4300	6503	92352502	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1474C>T	14.37:g.93282749C>T	ENSP00000163416:p.Leu492Phe		92352502	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577527	0.65878	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.48836	0.8;0.8	5.28	4.39	0.52855	.	0.200004	0.24415	N	0.038735	T	0.63674	0.2531	M	0.73217	2.22	0.53688	D	0.999978	D	0.71674	0.998	D	0.70716	0.97	T	0.64127	-0.6480	10	0.51188	T	0.08	-9.2157	9.7576	0.40513	0.1477:0.7768:0.0:0.0755	.	492	Q8TBA6	GOGA5_HUMAN	F	492;492;401	ENSP00000163416:L492F;ENSP00000348252:L492F	ENSP00000163416:L492F	L	+	1	0	GOLGA5	92352502	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	2.243000	0.43115	1.217000	0.43442	0.655000	0.94253	CTC		0.468	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			T	93282749	C	T	93282749	3	4	448	1	0	0	0	0	1	0	0	0	6556	797	28	2	1496	2	GOLGA5	14	93282749	Missense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08		93282749	14066791	33	24760											
KIAA1409	57578	broad.mit.edu	37	14	94109952	94109952	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr14:94109952G>C	ENST00000393151.2	+	35	6070	c.6070G>C	c.(6070-6072)Ggg>Cgg	p.G2024R	UNC79_ENST00000553484.1_Missense_Mutation_p.G2046R|UNC79_ENST00000555664.1_Missense_Mutation_p.G1985R|UNC79_ENST00000256339.4_Missense_Mutation_p.G1847R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2024					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1847R(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGAGACACTTGGGCTAGCCAT	0.498																																																1	Substitution - Missense(1)	ovary(1)	14											158	133	141					14																	94109952		2203	4300	6503	93179705	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6070G>C	14.37:g.94109952G>C	ENSP00000376858:p.Gly2024Arg		93179705	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	22.7	4.319046	0.81469	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.95	5.95	0.96441	.	0.098865	0.64402	D	0.000001	T	0.50343	0.1610	M	0.62723	1.935	0.50632	D	0.999882	P	0.48162	0.906	P	0.54499	0.754	T	0.45440	-0.9261	10	0.87932	D	0	-17.8019	20.3931	0.98965	0.0:0.0:1.0:0.0	.	2046	C9JQL1	.	R	1847;1985;2046;2024;2046	ENSP00000256339:G1847R;ENSP00000450868:G1985R;ENSP00000451360:G2046R;ENSP00000376858:G2024R	ENSP00000256339:G1847R	G	+	1	0	KIAA1409	93179705	1.000000	0.71417	0.949000	0.38748	0.887000	0.51463	5.401000	0.66326	2.824000	0.97209	0.655000	0.94253	GGG		0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94109952	G	C	94109952	3	2	448	1	0	0	0	0	1	0	0	0	8230	1348	47	3	5665	3	KIAA1409	14	94109952	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	827203	94109952	13239588	34	24761											
IQCH	64799	broad.mit.edu	37	15	67786632	67786632	+	Silent	SNP	C	C	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr15:67786632C>T	ENST00000335894.4	+	20	2964	c.2898C>T	c.(2896-2898)acC>acT	p.T966T	IQCH_ENST00000358767.3_Missense_Mutation_p.L682F|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.T623T|IQCH_ENST00000360277.4_Missense_Mutation_p.L607F	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	966								p.T966T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCCTCATGACCTTTGCTCGCC	0.413																																																1	Substitution - coding silent(1)	ovary(1)	15											101	87	92					15																	67786632		2201	4299	6500	65573686	SO:0001819	synonymous_variant	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2898C>T	15.37:g.67786632C>T			65573686	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596386	0.86953	.	.	ENSG00000103599	ENST00000358767;ENST00000360277	T;T	0.50277	0.77;0.75	5.62	5.62	0.85841	.	.	.	.	.	T	0.72614	0.3482	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75599	-0.3262	8	0.87932	D	0	-27.8105	19.6702	0.95909	0.0:1.0:0.0:0.0	.	607	Q86VS3-4	.	F	682;607	ENSP00000351617:L682F;ENSP00000353419:L607F	ENSP00000351617:L682F	L	+	1	0	IQCH	65573686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.665000	0.90641	0.650000	0.86243	CTT		0.413	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		T	67786632	C	T	67786632	2	4	448	1	0	0	0	0	0	0	0	1	7811	668	24	2		2	IQCH	15	67786632	Silent	SNP	C	TCGA-61-2008-01A-02W-0722-08		67786632	34744760	35	24762											
BLM	641	broad.mit.edu	37	15	91352450	91352450	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr15:91352450A>G	ENST00000355112.3	+	20	3953	c.3835A>G	c.(3835-3837)Att>Gtt	p.I1279V	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.I1148V	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1279	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.I1279V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGCGGAAGTGATTTCAGTATT	0.403			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	1	Substitution - Missense(1)	ovary(1)	15											174	168	170					15																	91352450		2198	4298	6496	89153454	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3835A>G	15.37:g.91352450A>G	ENSP00000347232:p.Ile1279Val		89153454	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015444	0.54468	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.50548	0.74	5.88	5.88	0.94601	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.53249	1.67	0.27069	N	0.963365	B;B	0.24963	0.025;0.115	B;B	0.44224	0.127;0.444	T	0.59182	-0.7502	10	0.56958	D	0.05	0.0978	14.2535	0.66035	1.0:0.0:0.0:0.0	.	1279;1279	B2RAN0;P54132	.;BLM_HUMAN	V	1279;909;466	ENSP00000347232:I1279V	ENSP00000347232:I1279V	I	+	1	0	BLM	89153454	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.589000	0.67523	2.239000	0.73571	0.533000	0.62120	ATT		0.403	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			G	91352450	A	G	91352450	3	3	448	1	0	0	0	0	1	0	0	0	1445	333	12	4	3909	4	BLM	15	91352450	Missense_Mutation	SNP	A	TCGA-61-2008-01A-02W-0722-08	23565818	91352450	11178942	36	24763											
TEKT5	146279	broad.mit.edu	37	16	10721462	10721462	+	Missense_Mutation	SNP	G	G	A	rs201676909		TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr16:10721462G>A	ENST00000283025.2	-	7	1507	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	479						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.P479L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CACCAGGCGCGGGGTGCAGGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	16						G	LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	62	61	61		1436	4	0.5	16		61	0,8600		0,0,4300	no	missense	TEKT5	NM_144674.1	98	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	479/486	10721462	1,12993	2197	4300	6497	10628963	SO:0001583	missense	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1436C>T	16.37:g.10721462G>A	ENSP00000283025:p.Pro479Leu		10628963	A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	G	5.777	0.327640	0.10956	2.28E-4	0.0	ENSG00000153060	ENST00000283025	T	0.02737	4.18	4.99	4.03	0.46877	.	0.000000	0.56097	D	0.000034	T	0.02267	0.0070	N	0.17723	0.515	0.80722	D	1	B	0.16802	0.019	B	0.15484	0.013	T	0.54543	-0.8278	10	0.22109	T	0.4	-22.4595	10.3428	0.43889	0.0933:0.0:0.9067:0.0	.	479	Q96M29	TEKT5_HUMAN	L	479	ENSP00000283025:P479L	ENSP00000283025:P479L	P	-	2	0	TEKT5	10628963	1.000000	0.71417	0.529000	0.27951	0.922000	0.55478	5.163000	0.64948	1.098000	0.41479	0.505000	0.49811	CCG		0.572	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		A	10721462	G	A	10721462	3	1	448	1	0	0	0	0	1	0	0	0	15756	1116	39	1	25	1	TEKT5	16	10721462	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08		10721462	79633291	37	24764											
ITGAL	3683	broad.mit.edu	37	16	30507443	30507443	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr16:30507443T>C	ENST00000356798.6	+	14	1709	c.1529T>C	c.(1528-1530)cTg>cCg	p.L510P	ITGAL_ENST00000358164.5_Missense_Mutation_p.L427P|ITGAL_ENST00000433423.2_Intron|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	510					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.L510P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GTCTCAGAGCTGCAGGGGGAC	0.567																																					NSCLC(110;1462 1641 3311 33990 49495)											1	Substitution - Missense(1)	ovary(1)	16											71	75	74					16																	30507443		2197	4300	6497	30414944	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1529T>C	16.37:g.30507443T>C	ENSP00000349252:p.Leu510Pro		30414944	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.057186	0.55325	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.27557	1.66;1.66	5.94	5.94	0.96194	.	0.000000	0.45867	D	0.000330	T	0.66519	0.2797	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.76416	-0.2967	10	0.87932	D	0	.	13.9183	0.63914	0.0:0.0:0.0:1.0	.	427;510	Q96HB1;P20701	.;ITAL_HUMAN	P	510;427	ENSP00000349252:L510P;ENSP00000350886:L427P	ENSP00000349252:L510P	L	+	2	0	ITGAL	30414944	0.966000	0.33281	0.561000	0.28357	0.485000	0.33311	2.800000	0.47900	2.272000	0.75746	0.460000	0.39030	CTG		0.567	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			C	30507443	T	C	30507443	3	2	448	1	0	0	0	0	1	0	0	0	7886	1580	55	4	1583	4	ITGAL	16	30507443	Missense_Mutation	SNP	T	TCGA-61-2008-01A-02W-0722-08	19785981	30507443	59847310	38	24765											
IRX6	79190	broad.mit.edu	37	16	55361611	55361611	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr16:55361611A>T	ENST00000290552.7	+	4	1859	c.527A>T	c.(526-528)aAg>aTg	p.K176M	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	176					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K176M(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TACCCCACTAAGGGTGAGAAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											134	103	114					16																	55361611		2198	4300	6498	53919112	SO:0001583	missense	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.527A>T	16.37:g.55361611A>T	ENSP00000290552:p.Lys176Met		53919112	B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	A	34	5.316227	0.95655	.	.	ENSG00000159387	ENST00000290552	D	0.92299	-3.01	6.08	6.08	0.98989	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95999	0.8697	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96351	0.9258	10	0.87932	D	0	-34.4914	16.3053	0.82846	1.0:0.0:0.0:0.0	.	176;75	P78412;Q9BZI2	IRX6_HUMAN;.	M	176	ENSP00000290552:K176M	ENSP00000290552:K176M	K	+	2	0	IRX6	53919112	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.230000	0.95299	2.333000	0.79357	0.533000	0.62120	AAG		0.587	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		T	55361611	A	T	55361611	3	4	448	1	0	0	0	0	1	0	0	0	7848	72	3	5	541	5	IRX6	16	55361611	Missense_Mutation	SNP	A	TCGA-61-2008-01A-02W-0722-08	24854168	55361611	34993142	39	24766											
GFOD2	81577	broad.mit.edu	37	16	67719598	67719598	+	Silent	SNP	C	C	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr16:67719598C>A	ENST00000268797.7	-	2	366	c.21G>T	c.(19-21)gtG>gtT	p.V7V	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	7					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.V7V(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		CAAACACGCCCACTCCTGGCA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	16											60	60	60					16																	67719598		2198	4300	6498	66277099	SO:0001819	synonymous_variant	81577			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.21G>T	16.37:g.67719598C>A			66277099	Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Silent	SNP	ENST00000268797.7	37	CCDS10845.1																																																																																				0.577	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		A	67719598	C	A	67719598	2	1	448	1	0	0	0	0	0	0	0	1	6344	581	21	3		3	GFOD2	16	67719598	Silent	SNP	C	TCGA-61-2008-01A-02W-0722-08	12357987	67719598	22635155	40	24767											
MYBBP1A	10514	broad.mit.edu	37	17	4443019	4443019	+	Silent	SNP	C	C	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr17:4443019C>T	ENST00000254718.4	-	26	3984	c.3678G>A	c.(3676-3678)ggG>ggA	p.G1226G	MYBBP1A_ENST00000381556.2_Silent_p.G1226G			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1226	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.G1226G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGGTTGGCGTCCCGTTTGCCT	0.647																																																1	Substitution - coding silent(1)	ovary(1)	17											97	102	100					17																	4443019		2203	4300	6503	4389768	SO:0001819	synonymous_variant	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3678G>A	17.37:g.4443019C>T			4389768	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																				0.647	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		T	4443019	C	T	4443019	2	4	448	1	0	0	0	0	0	0	0	1	10008	842	30	2		2	MYBBP1A	17	4443019	Silent	SNP	C	TCGA-61-2008-01A-02W-0722-08		4443019	76752191	41	24768											
TP53	7157	broad.mit.edu	37	17	7579335	7579336	+	Frame_Shift_Ins	INS	-	-	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	-	-	C	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr17:7579335_7579336insC	ENST00000269305.4	-	4	540_541	c.351_352insG	c.(349-354)gggacafs	p.T118fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.T118fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.T118fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.T118fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.T118fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.T118fs	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	118	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T118fs*31(4)|p.G59fs*23(3)|p.T118fs*5(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.T118A(1)|p.Y107fs*44(1)|p.T118fs*6(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.L114fs*30(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)	GACTTGGCTGTCCCAGAATGCA	0.574		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"	29	Deletion - Frameshift(13)|Whole gene deletion(8)|Insertion - Frameshift(5)|Deletion - In frame(2)|Substitution - Missense(1)	upper_aerodigestive_tract(6)|lung(6)|bone(5)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|urinary_tract(2)|breast(2)|stomach(1)|liver(1)|ovary(1)	17																																								7520061	SO:0001589	frameshift_variant	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.352dupG	17.37:g.7579338_7579338dupC	ENSP00000269305:p.Thr118fs		7520060	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7579336	-	C	7579335	7	5	448	1	0	1	1	0	0	0	0	0	16381	1667	58	0	950	0	TP53	17	7579335	Frame_Shift_Ins	INS	-	TCGA-61-2008-01A-02W-0722-08	3136316	7579335	73615875	42	24769											
ZNF652	22834	broad.mit.edu	37	17	47394440	47394440	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr17:47394440A>T	ENST00000362063.2	-	2	966	c.648T>A	c.(646-648)agT>agA	p.S216R	ZNF652_ENST00000430262.2_Missense_Mutation_p.S216R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S216R(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTGGCTCTACACTCTTCCTAC	0.517																																																1	Substitution - Missense(1)	ovary(1)	17											118	104	109					17																	47394440		2203	4300	6503	44749439	SO:0001583	missense	22834			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.648T>A	17.37:g.47394440A>T	ENSP00000354686:p.Ser216Arg		44749439	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.237509	0.22711	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08193	3.12;3.12	4.95	1.56	0.23342	.	0.172122	0.64402	D	0.000004	T	0.04815	0.0130	N	0.22421	0.69	0.31892	N	0.61706	B	0.02656	0.0	B	0.01281	0.0	T	0.39502	-0.9611	10	0.11794	T	0.64	-11.7563	8.7227	0.34449	0.5985:0.0:0.4015:0.0	.	216	Q9Y2D9	ZN652_HUMAN	R	216	ENSP00000354686:S216R;ENSP00000416305:S216R	ENSP00000354686:S216R	S	-	3	2	ZNF652	44749439	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	1.009000	0.29886	0.076000	0.16826	-0.250000	0.11733	AGT		0.517	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		T	47394440	A	T	47394440	3	4	448	1	0	0	0	0	1	0	0	0	18065	156	6	5	1192	5	ZNF652	17	47394440	Missense_Mutation	SNP	A	TCGA-61-2008-01A-02W-0722-08	39815105	47394440	33800770	43	24770											
MYCBPAP	84073	broad.mit.edu	37	17	48596059	48596059	+	Missense_Mutation	SNP	G	G	C	rs200374790		TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr17:48596059G>C	ENST00000323776.5	+	5	917	c.755G>C	c.(754-756)cGg>cCg	p.R252P	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R215P	NM_032133.4	NP_115509.4			MYCBP associated protein									p.R215P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACAGCCCTGCGGAAGAAGCAG	0.587																																																1	Substitution - Missense(1)	ovary(1)	17											69	81	77					17																	48596059		2203	4300	6503	45951058	SO:0001583	missense	84073			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.755G>C	17.37:g.48596059G>C	ENSP00000323184:p.Arg252Pro		45951058		Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463548	0.84425	.	.	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T;T	0.67345	-0.26;-0.26;-0.26	5.22	5.22	0.72569	.	0.118793	0.53938	D	0.000048	D	0.82582	0.5068	M	0.77103	2.36	0.49687	D	0.999818	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.84338	0.0525	10	0.66056	D	0.02	-11.4075	19.1305	0.93404	0.0:0.0:1.0:0.0	.	215;252	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	P	252;267;215	ENSP00000323184:R252P;ENSP00000407145:R267P;ENSP00000397209:R215P	ENSP00000323184:R252P	R	+	2	0	MYCBPAP	45951058	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.289000	0.72696	2.594000	0.87642	0.563000	0.77884	CGG		0.587	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		C	48596059	G	C	48596059	3	2	448	1	0	0	0	0	1	0	0	0	10019	1116	39	3	773	3	MYCBPAP	17	48596059	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	1201619	48596059	32599151	44	24771											
ICAM2	3384	broad.mit.edu	37	17	62082581	62082581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr17:62082581G>A	ENST00000412356.1	-	4	568	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	ICAM2_ENST00000579788.1_Nonsense_Mutation_p.Q72*|ICAM2_ENST00000418105.1_Nonsense_Mutation_p.Q72*|ICAM2_ENST00000578892.1_Nonsense_Mutation_p.Q48*|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579687.1_Nonsense_Mutation_p.Q72*|ICAM2_ENST00000449662.2_Nonsense_Mutation_p.Q72*	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	72	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)	p.Q72*(1)		large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CACTGAGCCTGTTCGTCCAGC	0.527																																																1	Substitution - Nonsense(1)	ovary(1)	17											155	116	129					17																	62082581		2203	4300	6503	59436313	SO:0001587	stop_gained	3384				CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.214C>T	17.37:g.62082581G>A	ENSP00000415283:p.Gln72*		59436313	Q14600	Nonsense_Mutation	SNP	ENST00000412356.1	37	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444762	0.63178	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	.	.	.	5.14	-5.41	0.02648	.	1.324640	0.04951	N	0.460390	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.495	9.0555	0.36403	0.0797:0.64:0.1744:0.1059	.	.	.	.	X	72	.	ENSP00000415283:Q72X	Q	-	1	0	ICAM2	59436313	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.291000	0.08343	-0.389000	0.07786	-0.311000	0.09066	CAG		0.527	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			A	62082581	G	A	62082581	4	1	448	1	0	0	0	0	0	1	0	0	7480	1386	48	2	625	2	ICAM2	17	62082581	Nonsense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	13486522	62082581	19112629	45	24772											
BPTF	2186	broad.mit.edu	37	17	65907750	65907750	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr17:65907750G>T	ENST00000321892.4	+	13	4189	c.4128G>T	c.(4126-4128)aaG>aaT	p.K1376N	BPTF_ENST00000335221.5_Missense_Mutation_p.K1376N|BPTF_ENST00000306378.6_Missense_Mutation_p.K1250N|BPTF_ENST00000424123.3_Missense_Mutation_p.K1237N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1376					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K1250N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTCTTCCAAGAGTGCTTTAC	0.418																																																1	Substitution - Missense(1)	ovary(1)	17											92	88	89					17																	65907750		2203	4300	6503	63338212	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4128G>T	17.37:g.65907750G>T	ENSP00000315454:p.Lys1376Asn		63338212	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	2.363	-0.346192	0.05208	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62364	0.04;0.04;0.03	5.72	2.26	0.28386	.	.	.	.	.	T	0.39517	0.1081	N	0.19112	0.55	0.09310	N	1	B;B	0.34015	0.157;0.435	B;B	0.24155	0.051;0.037	T	0.29971	-0.9994	9	0.72032	D	0.01	-0.0773	4.7878	0.13234	0.1958:0.0:0.4437:0.3605	.	1250;1376	Q12830-2;Q12830-4	.;.	N	1250;1376;1376	ENSP00000307208:K1250N;ENSP00000334351:K1376N;ENSP00000315454:K1376N	ENSP00000307208:K1250N	K	+	3	2	BPTF	63338212	0.458000	0.25760	0.212000	0.23672	0.696000	0.40369	0.893000	0.28336	0.727000	0.32360	0.650000	0.86243	AAG		0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65907750	G	T	65907750	3	4	448	1	0	0	0	0	1	0	0	0	1495	933	33	3	4178	3	BPTF	17	65907750	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	3825169	65907750	15287460	46	24773											
CLUL1	27098	broad.mit.edu	37	18	645002	645002	+	Silent	SNP	C	C	G			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr18:645002C>G	ENST00000400606.2	+	8	1447	c.1302C>G	c.(1300-1302)ctC>ctG	p.L434L	CLUL1_ENST00000540035.1_Silent_p.L486L|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000579494.1_Silent_p.L434L|CLUL1_ENST00000338387.7_Silent_p.L434L|CLUL1_ENST00000581619.1_Silent_p.L459L	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	434					cell death (GO:0008219)	extracellular region (GO:0005576)		p.L434L(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ATTTCACACTCAAGATCCCTC	0.378																																																1	Substitution - coding silent(1)	ovary(1)	18											105	97	100					18																	645002		1854	4094	5948	635002	SO:0001819	synonymous_variant	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1302C>G	18.37:g.645002C>G			635002	A0FDN7	Silent	SNP	ENST00000400606.2	37	CCDS42405.1																																																																																				0.378	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			G	645002	C	G	645002	2	3	448	1	0	0	0	0	0	0	0	1	3570	813	29	3		3	CLUL1	18	645002	Silent	SNP	C	TCGA-61-2008-01A-02W-0722-08		645002	77432246	47	24774											
INSR	3643	broad.mit.edu	37	19	7143008	7143008	+	Silent	SNP	G	G	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr19:7143008G>A	ENST00000302850.5	-	12	2503	c.2361C>T	c.(2359-2361)agC>agT	p.S787S	INSR_ENST00000341500.5_Silent_p.S775S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	787	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.S787S(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TCGTGGGCACGCTGGTCGAGG	0.612																																																1	Substitution - coding silent(1)	ovary(1)	19											94	64	74					19																	7143008		2203	4300	6503	7094008	SO:0001819	synonymous_variant	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2361C>T	19.37:g.7143008G>A			7094008	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	CCDS12176.1																																																																																				0.612	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			A	7143008	G	A	7143008	2	1	448	1	0	0	0	0	0	0	0	1	7773	1078	38	1		1	INSR	19	7143008	Silent	SNP	G	TCGA-61-2008-01A-02W-0722-08		7143008	51985975	48	24775											
EPOR	2057	broad.mit.edu	37	19	11488790	11488790	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr19:11488790G>A	ENST00000222139.6	-	8	1501	c.1397C>T	c.(1396-1398)aCt>aTt	p.T466I	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	466					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)	p.T466I(1)		endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCTGTAGTCAGTTGAGATGCC	0.587											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	19											79	84	83					19																	11488790		2203	4300	6503	11349790	SO:0001583	missense	2057			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1397C>T	19.37:g.11488790G>A	ENSP00000222139:p.Thr466Ile	672	11349790	B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344614	0.41498	.	.	ENSG00000187266	ENST00000222139	T	0.52983	0.64	4.82	4.82	0.62117	.	0.341069	0.21376	N	0.075554	T	0.32466	0.0830	L	0.27053	0.805	0.19575	N	0.999962	P	0.40476	0.718	B	0.36885	0.235	T	0.14896	-1.0456	10	0.12430	T	0.62	-46.6304	14.8059	0.69956	0.0:0.0:1.0:0.0	.	466	P19235	EPOR_HUMAN	I	466	ENSP00000222139:T466I	ENSP00000222139:T466I	T	-	2	0	EPOR	11349790	0.954000	0.32549	0.194000	0.23346	0.942000	0.58702	4.497000	0.60367	2.210000	0.71456	0.555000	0.69702	ACT		0.587	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			A	11488790	G	A	11488790	3	1	448	1	0	0	0	0	1	0	0	0	5189	1029	36	2	133	2	EPOR	19	11488790	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08	4345782	11488790	47640193	49	24776											
DHX34	9704	broad.mit.edu	37	19	47856442	47856442	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr19:47856442A>T	ENST00000328771.4	+	2	504	c.155A>T	c.(154-156)cAg>cTg	p.Q52L		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	52					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.Q52L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TACATCCGTCAGGGTTCTGAG	0.522																																																1	Substitution - Missense(1)	ovary(1)	19											74	74	74					19																	47856442		2203	4300	6503	52548282	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.155A>T	19.37:g.47856442A>T	ENSP00000331907:p.Gln52Leu		52548282	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648991	0.47362	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02631	4.22	5.84	0.25	0.15535	.	0.635768	0.14792	N	0.298154	T	0.02230	0.0069	L	0.29908	0.895	0.22858	N	0.998643	B;B	0.26195	0.144;0.049	B;B	0.18561	0.021;0.022	T	0.42699	-0.9436	10	0.66056	D	0.02	-16.2098	5.4474	0.16544	0.4465:0.244:0.3094:0.0	.	52;52	Q14147;B4E3G3	DHX34_HUMAN;.	L	52	ENSP00000331907:Q52L	ENSP00000257252:Q52L	Q	+	2	0	DHX34	52548282	0.936000	0.31750	1.000000	0.80357	0.971000	0.66376	0.331000	0.19733	0.306000	0.22856	0.454000	0.30748	CAG		0.522	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		T	47856442	A	T	47856442	3	4	448	1	0	0	0	0	1	0	0	0	4507	188	7	5	157	5	DHX34	19	47856442	Missense_Mutation	SNP	A	TCGA-61-2008-01A-02W-0722-08	36367652	47856442	11272541	50	24777											
SYCP2	10388	broad.mit.edu	37	20	58448984	58448984	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr20:58448984G>A	ENST00000357552.3	-	35	3707	c.3482C>T	c.(3481-3483)tCa>tTa	p.S1161L	SYCP2_ENST00000371001.2_Missense_Mutation_p.S1161L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1161					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.S1161L(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTTTTTGGGTGACTTTATTGT	0.343																																																1	Substitution - Missense(1)	ovary(1)	20											160	139	146					20																	58448984		2203	4300	6503	57882379	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3482C>T	20.37:g.58448984G>A	ENSP00000350162:p.Ser1161Leu		57882379	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391983	0.62066	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.18502	2.21;2.21	4.68	3.73	0.42828	.	0.529823	0.17238	N	0.181654	T	0.19967	0.0480	M	0.64997	1.995	0.32197	N	0.578264	B	0.23540	0.087	B	0.25759	0.063	T	0.14980	-1.0453	10	0.87932	D	0	-1.9543	10.2094	0.43132	0.0935:0.0:0.9065:0.0	.	1161	Q9BX26	SYCP2_HUMAN	L	1161	ENSP00000360040:S1161L;ENSP00000350162:S1161L	ENSP00000350162:S1161L	S	-	2	0	SYCP2	57882379	0.738000	0.28186	0.380000	0.26093	0.864000	0.49448	2.397000	0.44477	1.348000	0.45733	-0.251000	0.11542	TCA		0.343	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		A	58448984	G	A	58448984	3	1	448	1	0	0	0	0	1	0	0	0	15432	1294	45	2	1154	2	SYCP2	20	58448984	Missense_Mutation	SNP	G	TCGA-61-2008-01A-02W-0722-08		58448984	4576536	51	24778											
PIWIL3	440822	broad.mit.edu	37	22	25150089	25150089	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chr22:25150089C>G	ENST00000332271.5	-	8	1285	c.869G>C	c.(868-870)cGa>cCa	p.R290P	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R181P|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R181P|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	290	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.R290P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTTTCTATTCGGAGCAGTTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	22											124	122	123					22																	25150089		2203	4300	6503	23480089	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.869G>C	22.37:g.25150089C>G	ENSP00000330031:p.Arg290Pro		23480089		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855106	0.17106	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.15487	2.42;2.42;2.42	2.42	0.293	0.15742	Argonaute/Dicer protein, PAZ (1);	0.000000	0.64402	U	0.000001	T	0.39279	0.1072	M	0.87180	2.865	0.22317	N	0.999202	D;D;D	0.89917	1.0;0.974;1.0	D;D;D	0.97110	1.0;0.909;0.998	T	0.11470	-1.0586	10	0.87932	D	0	-3.4131	6.187	0.20503	0.0:0.7142:0.0:0.2858	.	181;290;290	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	P	290;181;181	ENSP00000330031:R290P;ENSP00000431843:R181P;ENSP00000435718:R181P	ENSP00000330031:R290P	R	-	2	0	PIWIL3	23480089	0.910000	0.30920	0.009000	0.14445	0.073000	0.16967	1.356000	0.34079	0.138000	0.18790	0.462000	0.41574	CGA		0.403	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		G	25150089	C	G	25150089	3	3	448	1	0	0	0	0	1	0	0	0	11959	884	31	3	1835	3	PIWIL3	22	25150089	Missense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08		25150089	26154477	52	24779											
SMS	6611	broad.mit.edu	37	X	21995350	21995350	+	Silent	SNP	T	T	C			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chrX:21995350T>C	ENST00000404933.2	+	5	753	c.501T>C	c.(499-501)gaT>gaC	p.D167D	SMS_ENST00000415881.2_Silent_p.D71D|SMS_ENST00000379404.1_Silent_p.D114D|SMS_ENST00000478094.1_3'UTR	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	167	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)	p.D167D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TTAGTGGGGATGTTAGTAAGT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	X											93	94	94					X																	21995350		2203	4300	6503	21905271	SO:0001819	synonymous_variant	6611			AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"Snyder-Robinson X-linked mental retardation syndrome"	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.501T>C	X.37:g.21995350T>C			21905271	A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Silent	SNP	ENST00000404933.2	37	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	T	9.544	1.114228	0.20795	.	.	ENSG00000102172	ENST00000457085	.	.	.	5.73	1.73	0.24493	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49390	-0.8945	4	.	.	.	-16.7637	8.6985	0.34312	0.0:0.2382:0.0:0.7618	.	.	.	.	R	259	.	.	C	+	1	0	SMS	21905271	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.849000	0.27723	0.201000	0.20466	0.486000	0.48141	TGT		0.378	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		C	21995350	T	C	21995350	2	2	448	1	0	0	0	0	0	0	0	1	14816	1461	51	4		4	SMS	23	21995350	Silent	SNP	T	TCGA-61-2008-01A-02W-0722-08		21995350	133275210	53	24780											
OGT	8473	broad.mit.edu	37	X	70777085	70777085	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2008-01A-02W-0722-08	TCGA-61-2008-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	20d280b2-7cc1-4f13-9a5a-0182848a0458	4df7e671-6a1f-4e16-b710-e030fbb819cf	g.chrX:70777085C>A	ENST00000373719.3	+	11	1578	c.1361C>A	c.(1360-1362)aCg>aAg	p.T454K	OGT_ENST00000373701.3_Missense_Mutation_p.T444K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	454					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.T444K(1)|p.T454K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCTTACCGCACGGCTCTGAAA	0.383																																																2	Substitution - Missense(2)	ovary(2)	X											54	49	50					X																	70777085		2203	4300	6503	70693810	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1361C>A	X.37:g.70777085C>A	ENSP00000362824:p.Thr454Lys		70693810	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527806	0.64860	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.15017	2.46;2.46	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	N	0.00760	-1.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.87578	0.985;0.998;0.836	T	0.37820	-0.9689	10	0.02654	T	1	-19.0818	18.9394	0.92600	0.0:1.0:0.0:0.0	.	328;444;454	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	K	454;444	ENSP00000362824:T454K;ENSP00000362805:T444K	ENSP00000362805:T444K	T	+	2	0	OGT	70693810	1.000000	0.71417	0.966000	0.40874	0.847000	0.48162	7.758000	0.85224	2.420000	0.82092	0.594000	0.82650	ACG		0.383	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		A	70777085	C	A	70777085	3	1	448	1	0	0	0	0	1	0	0	0	10847	536	19	3	1403	3	OGT	23	70777085	Missense_Mutation	SNP	C	TCGA-61-2008-01A-02W-0722-08	48781735	70777085	84493475	54	24781											
MASP2	10747	broad.mit.edu	37	1	11087367	11087367	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:11087367T>A	ENST00000400897.3	-	11	1651	c.1636A>T	c.(1636-1638)Agc>Tgc	p.S546C	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	546	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.S546C(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTGATGTTGCTATTGATTACA	0.393																																					GBM(35;611 746 20780 22741 36496)											1	Substitution - Missense(1)	ovary(1)	1											154	151	152					1																	11087367		2203	4300	6503	11009954	SO:0001583	missense	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1636A>T	1.37:g.11087367T>A	ENSP00000383690:p.Ser546Cys		11009954	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	CCDS123.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822809	0.50739	.	.	ENSG00000009724	ENST00000400897	D	0.93604	-3.25	5.06	1.39	0.22231	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.592426	0.18683	N	0.134104	D	0.94351	0.8184	M	0.72479	2.2	0.09310	N	0.999999	D	0.65815	0.995	P	0.58820	0.846	D	0.87726	0.2576	10	0.66056	D	0.02	.	8.5111	0.33217	0.0:0.3949:0.0:0.6051	.	546	O00187	MASP2_HUMAN	C	546	ENSP00000383690:S546C	ENSP00000383690:S546C	S	-	1	0	MASP2	11009954	0.000000	0.05858	0.204000	0.23530	0.990000	0.78478	-0.019000	0.12546	0.240000	0.21263	0.460000	0.39030	AGC		0.393	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		A	11087367	T	A	11087367	3	1	449	1	0	0	0	0	1	0	0	0	9323	1522	53	5	428	5	MASP2	1	11087367	Missense_Mutation	SNP	T	TCGA-61-2009-01A-01W-0722-08		11087367	238163254	1	24782											
IQCC	55721	broad.mit.edu	37	1	32671810	32671810	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:32671810A>T	ENST00000291358.6	+	2	119	c.98A>T	c.(97-99)tAt>tTt	p.Y33F	RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_Missense_Mutation_p.Y113F	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	33	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.							p.Y33F(1)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGAGCTGAGTATGAGGCGATT	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											86	88	87					1																	32671810		2203	4300	6503	32444397	SO:0001583	missense	55721			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.98A>T	1.37:g.32671810A>T	ENSP00000291358:p.Tyr33Phe		32444397	F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	CCDS355.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450782	0.84101	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.10382	2.88;2.88	5.13	5.13	0.70059	.	0.088052	0.47455	D	0.000230	T	0.29223	0.0727	L	0.57536	1.79	0.43508	D	0.995764	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.00643	-1.1630	10	0.45353	T	0.12	-3.2428	15.0621	0.71964	1.0:0.0:0.0:0.0	.	113;33	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	F	113;33	ENSP00000442291:Y113F;ENSP00000291358:Y33F	ENSP00000291358:Y33F	Y	+	2	0	IQCC	32444397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.959000	0.56744	2.292000	0.77174	0.533000	0.62120	TAT		0.607	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		T	32671810	A	T	32671810	3	4	449	1	0	0	0	0	1	0	0	0	7804	449	16	5	344	5	IQCC	1	32671810	Missense_Mutation	SNP	A	TCGA-61-2009-01A-01W-0722-08	21584443	32671810	216578811	2	24783											
ST3GAL3	6487	broad.mit.edu	37	1	44360113	44360113	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:44360113C>T	ENST00000361392.4	+	6	538	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R121W|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R105W|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R120W|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R121W|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R159W|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R136W|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R121W|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R136W|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R136W|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R90W|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R175W|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R105W|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R121W|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R120W|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R90W|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R121W|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R175W|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R159W|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R105W|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R121W|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R190W|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R190W|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R105W|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R105W|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R121W	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	121					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.R190W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GGCTAGAATCCGGGAGTTCGT	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											172	164	167					1																	44360113		2203	4300	6503	44132700	SO:0001583	missense	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.361C>T	1.37:g.44360113C>T	ENSP00000355341:p.Arg121Trp		44132700	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	CCDS492.1	.	.	.	.	.	.	.	.	.	.	c	19.45	3.829452	0.71258	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78707	1.47;1.47;1.47;1.47;1.47;1.47;1.47;-1.18;-1.19;1.47;-1.2;1.47;-1.18;-1.19;-1.19;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.99	4.01	0.46588	.	0.573603	0.17375	N	0.176506	T	0.81331	0.4800	L	0.34521	1.04	0.45139	D	0.998152	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.999;0.999;1.0;0.999;0.999;0.997;1.0;1.0;0.997;0.999;0.997;0.999;0.995;0.999;1.0;0.997	P;P;P;D;P;P;P;D;D;P;P;P;P;P;D;D;P	0.74348	0.799;0.784;0.862;0.983;0.784;0.854;0.707;0.96;0.981;0.827;0.827;0.707;0.827;0.806;0.913;0.96;0.901	T	0.82236	-0.0557	10	0.66056	D	0.02	.	13.0308	0.58840	0.162:0.838:0.0:0.0	.	121;74;105;120;105;120;90;121;136;121;159;105;175;121;190;105;136	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;.	W	121;105;190;175;159;90;121;136;121;105;121;136;136;121;105;121;190;120;120;121;175;159;105;105;121;90	ENSP00000355341:R121W;ENSP00000354748:R105W;ENSP00000262915:R190W;ENSP00000361450:R175W;ENSP00000316999:R159W;ENSP00000361449:R90W;ENSP00000330463:R121W;ENSP00000439634:R136W;ENSP00000333494:R121W;ENSP00000335633:R105W;ENSP00000361452:R121W;ENSP00000317192:R136W;ENSP00000355201:R136W;ENSP00000361437:R121W;ENSP00000435603:R105W;ENSP00000361444:R121W;ENSP00000354657:R190W;ENSP00000361442:R120W;ENSP00000361441:R120W;ENSP00000361440:R121W;ENSP00000361443:R175W;ENSP00000361447:R159W;ENSP00000434876:R105W;ENSP00000432682:R105W;ENSP00000432965:R121W;ENSP00000329755:R90W	ENSP00000262915:R190W	R	+	1	2	ST3GAL3	44132700	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.056000	0.49923	2.333000	0.79357	0.486000	0.48141	CGG		0.512	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		T	44360113	C	T	44360113	3	4	449	1	0	0	0	0	1	0	0	0	15218	643	23	1	590	1	ST3GAL3	1	44360113	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	11688303	44360113	204890508	3	24784											
SLC5A9	200010	broad.mit.edu	37	1	48690414	48690414	+	Nonsense_Mutation	SNP	C	C	T	rs199760707		TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:48690414C>T	ENST00000438567.2	+	2	233	c.181C>T	c.(181-183)Cga>Tga	p.R61*	SLC5A9_ENST00000533824.1_Nonsense_Mutation_p.R61*|SLC5A9_ENST00000236495.5_Nonsense_Mutation_p.R61*|SLC5A9_ENST00000420136.2_Nonsense_Mutation_p.R54*	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	61					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R54*(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CCGTGCAAGTCGAGGGACCAT	0.567																																																1	Substitution - Nonsense(1)	ovary(1)	1						C	stop/ARG,stop/ARG	0,4406		0,0,2203	125	124	124		181,181	1.4	0.3	1		124	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	SLC5A9	NM_001011547.2,NM_001135181.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	61/682,61/707	48690414	1,13005	2203	4300	6503	48463001	SO:0001587	stop_gained	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.181C>T	1.37:g.48690414C>T	ENSP00000401730:p.Arg61*		48463001	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Nonsense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876446	0.91664	0.0	1.16E-4	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	.	.	.	4.48	1.4	0.22301	.	0.114692	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8624	0.29517	0.2851:0.637:0.0:0.0779	.	.	.	.	X	61;61;61;54	.	ENSP00000236495:R61X	R	+	1	2	SLC5A9	48463001	1.000000	0.71417	0.313000	0.25210	0.854000	0.48673	3.169000	0.50809	0.178000	0.19917	0.655000	0.94253	CGA		0.567	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		T	48690414	C	T	48690414	4	4	449	1	0	0	0	0	0	1	0	0	14675	876	31	1	187	1	SLC5A9	1	48690414	Nonsense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	4330301	48690414	200560207	4	24785											
ORC1L	4998	broad.mit.edu	37	1	52859246	52859246	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:52859246G>C	ENST00000371568.3	-	6	1169	c.951C>G	c.(949-951)atC>atG	p.I317M	ORC1_ENST00000371566.1_Missense_Mutation_p.I317M	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	317					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I317M(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGGTTCTCAGGATTATGCGAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											211	191	197					1																	52859246		2203	4300	6503	52631834	SO:0001583	missense	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.951C>G	1.37:g.52859246G>C	ENSP00000360623:p.Ile317Met		52631834	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430016	0.25726	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.43688	0.94;0.94	4.49	1.06	0.20224	.	1.334900	0.04181	N	0.326448	T	0.36276	0.0961	L	0.60455	1.87	0.09310	N	0.999996	P;P	0.38642	0.641;0.641	B;B	0.34722	0.143;0.188	T	0.25641	-1.0126	10	0.46703	T	0.11	2.4137	2.6718	0.05069	0.292:0.0:0.4917:0.2164	.	317;317	B7Z8H0;Q13415	.;ORC1_HUMAN	M	317	ENSP00000360623:I317M;ENSP00000360621:I317M	ENSP00000360621:I317M	I	-	3	3	ORC1	52631834	0.296000	0.24398	0.271000	0.24616	0.166000	0.22503	0.303000	0.19210	0.217000	0.20800	0.655000	0.94253	ATC		0.483	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		C	52859246	G	C	52859246	3	2	449	1	0	0	0	0	1	0	0	0	11261	1164	41	3	1682	3	ORC1L	1	52859246	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	4168832	52859246	196391375	5	24786											
LRRC7	57554	broad.mit.edu	37	1	70257750	70257750	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:70257750C>G	ENST00000035383.5	+	2	244	c.214C>G	c.(214-216)Cga>Gga	p.R72G	LRRC7_ENST00000370958.1_Missense_Mutation_p.R110G|LRRC7_ENST00000310961.5_Missense_Mutation_p.R77G|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R72G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAGCTCTACGAAAACTAAG	0.294																																																1	Substitution - Missense(1)	ovary(1)	1											95	103	100					1																	70257750		2202	4295	6497	70030338	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.214C>G	1.37:g.70257750C>G	ENSP00000035383:p.Arg72Gly		70030338	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495794	0.64186	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.28255	1.62;2.79;1.66	5.68	2.7	0.31948	.	0.148908	0.46758	D	0.000280	T	0.19046	0.0457	L	0.51422	1.61	0.80722	D	1	B;B	0.33964	0.4;0.434	B;B	0.39068	0.289;0.239	T	0.04551	-1.0943	10	0.72032	D	0.01	.	13.3006	0.60324	0.4547:0.5453:0.0:0.0	.	72;110	Q96NW7;B1AKT2	LRRC7_HUMAN;.	G	77;110;72;72	ENSP00000309245:R77G;ENSP00000359997:R110G;ENSP00000035383:R72G	ENSP00000035383:R72G	R	+	1	2	LRRC7	70030338	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.305000	0.43664	0.277000	0.22141	0.561000	0.74099	CGA		0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		G	70257750	C	G	70257750	3	3	449	1	0	0	0	0	1	0	0	0	9020	528	19	3	220	3	LRRC7	1	70257750	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	17398504	70257750	178992871	6	24787											
GDAP2	54834	broad.mit.edu	37	1	118424460	118424460	+	Silent	SNP	G	G	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:118424460G>A	ENST00000369443.5	-	12	1536	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	GDAP2_ENST00000369442.3_Silent_p.P429P|GDAP2_ENST00000464026.1_5'Flank	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	429	CRAL-TRIO.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)		p.P429P(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AACGAAATGTGGGATGTACAA	0.318																																																1	Substitution - coding silent(1)	ovary(1)	1											95	103	100					1																	118424460		2203	4300	6503	118225983	SO:0001819	synonymous_variant	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1287C>T	1.37:g.118424460G>A			118225983	Q96DZ0	Silent	SNP	ENST00000369443.5	37	CCDS897.1																																																																																				0.318	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		A	118424460	G	A	118424460	2	1	449	1	0	0	0	0	0	0	0	1	6309	1335	47	2		2	GDAP2	1	118424460	Silent	SNP	G	TCGA-61-2009-01A-01W-0722-08	48166710	118424460	130826161	7	24788											
PRUNE	58497	broad.mit.edu	37	1	151006557	151006557	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:151006557G>C	ENST00000271620.3	+	8	1365	c.1209G>C	c.(1207-1209)gaG>gaC	p.E403D	BNIPL_ENST00000368931.3_5'Flank|BNIPL_ENST00000295294.7_5'Flank|PRUNE_ENST00000368935.1_Missense_Mutation_p.E118D|PRUNE_ENST00000368937.1_Missense_Mutation_p.E168D|PRUNE_ENST00000368936.1_Missense_Mutation_p.E221D|PRUNE_ENST00000271619.8_Missense_Mutation_p.E191D|PRUNE_ENST00000368934.1_Missense_Mutation_p.E168D	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	403	Essential for homodimerization.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)	p.E403D(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGATGAGGAGGACCCTCCGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											102	91	95					1																	151006557		2203	4300	6503	149273181	SO:0001583	missense	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"prune homolog (Drosophila)"			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.1209G>C	1.37:g.151006557G>C	ENSP00000271620:p.Glu403Asp		149273181	B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	CCDS977.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587336	0.28268	.	.	ENSG00000143363	ENST00000271620;ENST00000302413;ENST00000271619;ENST00000368937;ENST00000431193;ENST00000368936;ENST00000368935;ENST00000368934	T;T;T;T;T;T;T	0.34472	1.42;1.41;1.41;1.63;1.36;1.46;1.41	5.35	1.44	0.22558	.	0.134012	0.48767	N	0.000173	T	0.03827	0.0108	N	0.04880	-0.145	0.31363	N	0.681112	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.003	T	0.35724	-0.9777	9	.	.	.	.	1.4134	0.02296	0.17:0.1447:0.4146:0.2708	.	191;403	E9PCU1;Q86TP1	.;PRUNE_HUMAN	D	403;336;191;168;168;221;118;168	ENSP00000271620:E403D;ENSP00000271619:E191D;ENSP00000357933:E168D;ENSP00000392632:E168D;ENSP00000357932:E221D;ENSP00000357931:E118D;ENSP00000357930:E168D	.	E	+	3	2	PRUNE	149273181	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.173000	0.16724	0.179000	0.19938	0.655000	0.94253	GAG		0.572	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		C	151006557	G	C	151006557	3	2	449	1	0	0	0	0	1	0	0	0	12643	991	35	3	1239	3	PRUNE	1	151006557	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	32582097	151006557	98244064	8	24789											
FLG	2312	broad.mit.edu	37	1	152276888	152276888	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:152276888C>A	ENST00000368799.1	-	3	10509	c.10474G>T	c.(10474-10476)Gac>Tac	p.D3492Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3492	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D3492Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCGTCATTACGAGTT	0.572									Ichthyosis																																							1	Substitution - Missense(1)	ovary(1)	1											291	284	286					1																	152276888		2203	4297	6500	150543512	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10474G>T	1.37:g.152276888C>A	ENSP00000357789:p.Asp3492Tyr		150543512	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.561	0.104119	0.08731	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.52	-0.769	0.11009	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.58331	0.837	T	0.48490	-0.9031	9	0.62326	D	0.03	.	0.9273	0.01327	0.1543:0.2434:0.3671:0.2352	.	3492	P20930	FILA_HUMAN	Y	3492	ENSP00000357789:D3492Y	ENSP00000357789:D3492Y	D	-	1	0	FLG	150543512	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.493000	0.00972	-0.028000	0.13850	-2.046000	0.00415	GAC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152276888	C	A	152276888	3	1	449	1	0	0	0	0	1	0	0	0	5922	826	29	3	1715	3	FLG	1	152276888	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	1270331	152276888	96973733	9	24790											
PPOX	5498	broad.mit.edu	37	1	161140960	161140960	+	Silent	SNP	C	C	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr1:161140960C>T	ENST00000367999.4	+	13	1694	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	PPOX_ENST00000352210.5_Silent_p.N476N|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Silent_p.N184N|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	476					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)	p.N476N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGAACCTAACAGCTGATCCC	0.507																																																1	Substitution - coding silent(1)	ovary(1)	1											80	87	85					1																	161140960		2203	4300	6503	159407584	SO:0001819	synonymous_variant	5498			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1428C>T	1.37:g.161140960C>T			159407584	D3DVG0|Q5VTW8	Silent	SNP	ENST00000367999.4	37	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.984253	0.00443	.	.	ENSG00000143224	ENST00000537523	.	.	.	4.71	-0.611	0.11601	.	.	.	.	.	T	0.07413	0.0187	.	.	.	0.24347	N	0.994937	.	.	.	.	.	.	T	0.36089	-0.9762	4	.	.	.	-15.712	1.8241	0.03117	0.153:0.3749:0.2976:0.1745	.	.	.	.	I	229	.	.	T	+	2	0	PPOX	159407584	0.007000	0.16637	0.159000	0.22649	0.233000	0.25261	-0.049000	0.11924	-0.280000	0.09154	-0.832000	0.03076	ACA		0.507	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		T	161140960	C	T	161140960	2	4	449	1	0	0	0	0	0	0	0	1	12351	477	17	2		2	PPOX	1	161140960	Silent	SNP	C	TCGA-61-2009-01A-01W-0722-08	8864072	161140960	88109661	10	24791											
CAPN13	92291	broad.mit.edu	37	2	30993313	30993313	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr2:30993313G>C	ENST00000295055.8	-	5	566	c.390C>G	c.(388-390)ttC>ttG	p.F130L	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.F130L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	130	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.F130L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CACATTGCCAGAACTGGAAGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											128	130	130					2																	30993313		2024	4196	6220	30846817	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.390C>G	2.37:g.30993313G>C	ENSP00000295055:p.Phe130Leu		30846817	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	6.803	0.517156	0.13005	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.12569	2.67;2.67	5.46	3.67	0.42095	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00605	-1.1648	10	0.56958	D	0.05	.	11.2047	0.48762	0.1526:0.0:0.8474:0.0	.	130	Q6MZZ7	CAN13_HUMAN	L	130	ENSP00000295055:F130L;ENSP00000431298:F130L	ENSP00000295055:F130L	F	-	3	2	CAPN13	30846817	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	4.558000	0.60789	0.689000	0.31550	-0.258000	0.10820	TTC		0.522	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		C	30993313	G	C	30993313	3	2	449	1	0	0	0	0	1	0	0	0	2626	933	33	3	1691	3	CAPN13	2	30993313	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08		30993313	212206060	11	24792											
PLA2R1	22925	broad.mit.edu	37	2	160833794	160833794	+	Splice_Site	SNP	C	C	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr2:160833794C>T	ENST00000283243.7	-	15	2608		c.e15+1		PLA2R1_ENST00000392771.1_Splice_Site	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa						cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.?(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACTATTTTTACCTCTTGGGAT	0.353																																																1	Unknown(1)	ovary(1)	2											112	107	109					2																	160833794		2203	4300	6503	160542040	SO:0001630	splice_region_variant	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2401+1G>A	2.37:g.160833794C>T			160542040	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Splice_Site	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240837	0.79912	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.261	0.87069	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2R1	160542040	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.393000	0.73217	2.364000	0.80123	0.561000	0.74099	.		0.353	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		Intron	T	160833794	C	T	160833794	5	4	449	1	0	0	0	0	0	0	1	0	12010	521	18	2	2061	2	PLA2R1	2	160833794	Splice_Site	SNP	C	TCGA-61-2009-01A-01W-0722-08	129840481	160833794	82365579	12	24793											
ZDBF2	57683	broad.mit.edu	37	2	207169948	207169948	+	Silent	SNP	T	T	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr2:207169948T>C	ENST00000374423.3	+	5	1082	c.696T>C	c.(694-696)gaT>gaC	p.D232D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	232							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D232D(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAGCCAGATGGGGCCTCTA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	2											38	38	38					2																	207169948		1859	4094	5953	206878193	SO:0001819	synonymous_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.696T>C	2.37:g.207169948T>C			206878193	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																				0.378	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		C	207169948	T	C	207169948	2	2	449	1	0	0	0	0	0	0	0	1	17599	1461	51	4		4	ZDBF2	2	207169948	Silent	SNP	T	TCGA-61-2009-01A-01W-0722-08	46336154	207169948	36029425	13	24794											
FASTKD2	22868	broad.mit.edu	37	2	207636734	207636734	+	Silent	SNP	G	G	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr2:207636734G>C	ENST00000236980.6	+	5	1455	c.1107G>C	c.(1105-1107)gtG>gtC	p.V369V	FASTKD2_ENST00000402774.3_Silent_p.V369V|FASTKD2_ENST00000403094.3_Silent_p.V369V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	369					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.V369V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCAGTAAGGTGGTCCTAGGTA	0.333																																																1	Substitution - coding silent(1)	ovary(1)	2											138	142	141					2																	207636734		2203	4300	6503	207344979	SO:0001819	synonymous_variant	22868			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1107G>C	2.37:g.207636734G>C			207344979	Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	37	CCDS2371.1																																																																																				0.333	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		C	207636734	G	C	207636734	2	2	449	1	0	0	0	0	0	0	0	1	5686	1335	47	3		3	FASTKD2	2	207636734	Silent	SNP	G	TCGA-61-2009-01A-01W-0722-08	466786	207636734	35562639	14	24795											
SEC13	6396	broad.mit.edu	37	3	10357041	10357041	+	Missense_Mutation	SNP	C	C	T	rs201150723		TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr3:10357041C>T	ENST00000350697.3	-	3	253	c.128G>A	c.(127-129)cGc>cAc	p.R43H	SEC13_ENST00000337354.4_Missense_Mutation_p.R46H|SEC13_ENST00000397109.3_Missense_Mutation_p.R29H|SEC13_ENST00000383801.2_Missense_Mutation_p.R89H|SEC13_ENST00000397117.1_Missense_Mutation_p.R29H	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	43					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.R43H(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CCCTCCATTGCGCACATCAAA	0.592																																																1	Substitution - Missense(1)	ovary(1)	3											79	70	73					3																	10357041		2203	4300	6503	10332041	SO:0001583	missense	6396				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.128G>A	3.37:g.10357041C>T	ENSP00000312122:p.Arg43His		10332041	A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517390	0.64634	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105;ENST00000431352;ENST00000397102;ENST00000397101;ENST00000397099	T;T;T;T;T;T	0.81415	-0.18;-0.18;-0.18;-1.49;-1.49;-1.49	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155329	0.53938	D	0.000044	T	0.64316	0.2587	L	0.35341	1.055	0.58432	D	0.999999	D;P;P;D;P	0.56968	0.963;0.853;0.76;0.978;0.695	B;B;B;B;B	0.30316	0.114;0.111;0.111;0.08;0.045	T	0.70633	-0.4818	10	0.56958	D	0.05	.	10.4748	0.44659	0.0:0.9127:0.0:0.0873	.	43;43;29;89;43	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	H	29;46;43;29;89;43;46;43;43;89	ENSP00000380298:R29H;ENSP00000336566:R46H;ENSP00000312122:R43H;ENSP00000380306:R29H;ENSP00000373312:R89H;ENSP00000401368:R46H	ENSP00000336566:R46H	R	-	2	0	SEC13	10332041	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.572000	0.53849	2.617000	0.88574	0.655000	0.94253	CGC		0.592	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			T	10357041	C	T	10357041	3	4	449	1	0	0	0	0	1	0	0	0	13983	768	27	1	868	1	SEC13	3	10357041	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08		10357041	187665389	15	24796											
NUP210	23225	broad.mit.edu	37	3	13417904	13417904	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr3:13417904C>A	ENST00000254508.5	-	10	1262	c.1180G>T	c.(1180-1182)Gct>Tct	p.A394S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	394					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.A394S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AAGAACTCAGCAGGAAGCACA	0.557																																																1	Substitution - Missense(1)	ovary(1)	3											120	99	106					3																	13417904		2203	4300	6503	13392904	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1180G>T	3.37:g.13417904C>A	ENSP00000254508:p.Ala394Ser		13392904	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	5.709	0.315261	0.10789	.	.	ENSG00000132182	ENST00000254508	T	0.05139	3.49	5.31	-3.23	0.05109	.	1.500550	0.03263	N	0.183579	T	0.02929	0.0087	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.43147	-0.9409	10	0.09084	T	0.74	0.2376	8.7022	0.34332	0.0635:0.5675:0.1586:0.2105	.	394;394	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	S	394	ENSP00000254508:A394S	ENSP00000254508:A394S	A	-	1	0	NUP210	13392904	0.000000	0.05858	0.024000	0.17045	0.686000	0.39977	-3.081000	0.00613	-0.644000	0.05465	-0.479000	0.04858	GCT		0.557	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13417904	C	A	13417904	3	1	449	1	0	0	0	0	1	0	0	0	10760	710	25	3	4607	3	NUP210	3	13417904	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	3060863	13417904	184604526	16	24797											
TGFBR2	7048	broad.mit.edu	37	3	30729915	30729915	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr3:30729915G>A	ENST00000295754.5	+	6	1818	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R504Q	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R479Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TCCAAGGTGCGGGAGCACCCC	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											123	116	119					3																	30729915		2203	4300	6503	30704919	SO:0001583	missense	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1436G>A	3.37:g.30729915G>A	ENSP00000295754:p.Arg479Gln		30704919	B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605972	0.87157	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93307	-3.2;-3.2	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061520	0.64402	D	0.000002	D	0.89918	0.6854	N	0.13327	0.33	0.52501	D	0.999958	D;D	0.53312	0.959;0.959	P;P	0.48552	0.581;0.581	D	0.88700	0.3215	10	0.25751	T	0.34	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	479;504	P37173;D2JYI1	TGFR2_HUMAN;.	Q	479;504;309	ENSP00000295754:R479Q;ENSP00000351905:R504Q	ENSP00000295754:R479Q	R	+	2	0	TGFBR2	30704919	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.728000	0.74769	2.682000	0.91365	0.591000	0.81541	CGG		0.507	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			A	30729915	G	A	30729915	3	1	449	1	0	0	0	0	1	0	0	0	15822	1116	39	1	1537	1	TGFBR2	3	30729915	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	17312011	30729915	167292515	17	24798											
C3orf30	152405	broad.mit.edu	37	3	118865298	118865298	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr3:118865298G>T	ENST00000295622.1	+	1	302	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	88								p.G88C(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TGGTCAGGCTGGCCGCAGAGC	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											54	47	50					3																	118865298		2203	4300	6503	120347988	SO:0001583	missense	152405			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.262G>T	3.37:g.118865298G>T	ENSP00000295622:p.Gly88Cys		120347988	A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.35|12.35	1.910266|1.910266	0.33721|0.33721	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150	T|.	0.26518|.	1.73|.	2.91|2.91	0.93|0.93	0.19454|0.19454	.|.	.|.	.|.	.|.	.|.	T|T	0.22003|0.22003	0.0530|0.0530	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D;D|.	0.76494|.	0.992;0.999|.	P;D|.	0.71870|.	0.555;0.975|.	T|T	0.26430|0.26430	-1.0103|-1.0103	9|5	0.56958|.	D|.	0.05|.	.|.	6.5632|6.5632	0.22497|0.22497	0.0:0.2082:0.5956:0.1962|0.0:0.2082:0.5956:0.1962	.|.	88;88|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	C|L	88|51	ENSP00000295622:G88C|.	ENSP00000295622:G88C|.	G|W	+|+	1|2	0|0	C3orf30|C3orf30	120347988|120347988	0.008000|0.008000	0.16893|0.16893	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	1.700000|1.700000	0.37815|0.37815	0.237000|0.237000	0.21200|0.21200	-0.311000|-0.311000	0.09066|0.09066	GGC|TGG		0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		T	118865298	G	T	118865298	3	4	449	1	0	0	0	0	1	0	0	0	2220	1348	47	3	264	3	C3orf30	3	118865298	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	88135383	118865298	79157132	18	24799											
COL6A5	256076	broad.mit.edu	37	3	130159295	130159295	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr3:130159295A>G	ENST00000432398.2	+	35	6607	c.6113A>G	c.(6112-6114)cAa>cGa	p.Q2038R	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2038R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2038	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q77R(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TATGACAACCAACTCCTAATG	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											95	90	92					3																	130159295		1890	4116	6006	131641985	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6113A>G	3.37:g.130159295A>G	ENSP00000390895:p.Gln2038Arg		131641985	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	A	0.220	-1.029200	0.02045	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.83075	-1.68;-1.68	5.76	-1.0	0.10196	von Willebrand factor, type A (3);	0.688385	0.12694	N	0.446991	T	0.61825	0.2378	N	0.13098	0.295	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.004;0.004	T	0.44221	-0.9342	10	0.30854	T	0.27	.	1.7022	0.02875	0.3923:0.2138:0.2809:0.1129	.	2038;2038	A8TX70;A8TX70-2	CO6A5_HUMAN;.	R	2038	ENSP00000390895:Q2038R;ENSP00000265379:Q2038R	ENSP00000265379:Q2038R	Q	+	2	0	COL6A5	131641985	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.366000	0.20365	-0.397000	0.07691	-0.912000	0.02778	CAA		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		G	130159295	A	G	130159295	3	3	449	1	0	0	0	0	1	0	0	0	3702	130	5	4	6247	4	COL6A5	3	130159295	Missense_Mutation	SNP	A	TCGA-61-2009-01A-01W-0722-08	11293997	130159295	67863135	19	24800											
COL6A6	131873	broad.mit.edu	37	3	130290055	130290055	+	Missense_Mutation	SNP	C	C	T	rs377667400	byFrequency	TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr3:130290055C>T	ENST00000358511.6	+	6	2826	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	COL6A6_ENST00000453409.2_Missense_Mutation_p.T932M	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	932	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.T932M(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCAATGCCACGGCAAAGGCC	0.567													C|||	3	0.000599042	8e-04	0	5008	,	,		18998	0.001		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	3						C	MET/THR	0,3938		0,0,1969	64	64	64		2795	4.8	0.7	3		64	1,8305		0,1,4152	no	missense	COL6A6	NM_001102608.1	81	0,1,6121	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	932/2264	130290055	1,12243	1969	4153	6122	131772745	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2795C>T	3.37:g.130290055C>T	ENSP00000351310:p.Thr932Met		131772745	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790138	0.50102	0.0	1.2E-4	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77877	-1.13;-1.13	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000016	D	0.82788	0.5113	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.73675	-0.3908	10	0.35671	T	0.21	.	12.3866	0.55335	0.0:0.9166:0.0:0.0834	.	932	A6NMZ7	CO6A6_HUMAN	M	932	ENSP00000351310:T932M;ENSP00000399236:T932M	ENSP00000351310:T932M	T	+	2	0	COL6A6	131772745	0.069000	0.21087	0.698000	0.30274	0.972000	0.66771	1.814000	0.38972	2.403000	0.81681	0.561000	0.74099	ACG		0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		T	130290055	C	T	130290055	3	4	449	1	0	0	0	0	1	0	0	0	3703	536	19	1	2817	1	COL6A6	3	130290055	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	130760	130290055	67732375	20	24801											
UGT2B7	7364	broad.mit.edu	37	4	69974041	69974041	+	Splice_Site	SNP	G	G	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr4:69974041G>C	ENST00000305231.7	+	5	1356		c.e5+1		UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7						androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.?(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATGATCCTTCGTGAGTAGAAC	0.383																																																1	Unknown(1)	ovary(1)	4											143	140	141					4																	69974041		2203	4300	6503	70008630	SO:0001630	splice_region_variant	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1310+1G>C	4.37:g.69974041G>C			70008630	B2R810|Q6GTW0	Splice_Site	SNP	ENST00000305231.7	37	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	g	9.022	0.985144	0.18889	.	.	ENSG00000171234	ENST00000305231	.	.	.	2.49	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7717	0.34735	0.0:0.2361:0.7638:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UGT2B7	70008630	1.000000	0.71417	0.058000	0.19502	0.010000	0.07245	5.863000	0.69568	0.342000	0.23796	0.491000	0.48974	.		0.383	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074	Intron	C	69974041	G	C	69974041	5	2	449	1	0	0	0	0	0	0	1	0	16962	1159	40	3	1329	3	UGT2B7	4	69974041	Splice_Site	SNP	G	TCGA-61-2009-01A-01W-0722-08		69974041	121180235	21	24802											
WDFY3	23001	broad.mit.edu	37	4	85742596	85742596	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr4:85742596T>G	ENST00000295888.4	-	11	1639	c.1232A>C	c.(1231-1233)tAc>tCc	p.Y411S	WDFY3_ENST00000322366.6_Missense_Mutation_p.Y411S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	411					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.Y411S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCAGCCATGTAAATATTTGT	0.393																																																1	Substitution - Missense(1)	ovary(1)	4											114	115	114					4																	85742596		2203	4300	6503	85961620	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1232A>C	4.37:g.85742596T>G	ENSP00000295888:p.Tyr411Ser		85961620	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231528	0.79688	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.17528	2.27;2.27	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.41770	-0.9490	10	0.87932	D	0	.	16.0204	0.80478	0.0:0.0:0.0:1.0	.	411;411	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	S	411	ENSP00000318466:Y411S;ENSP00000295888:Y411S	ENSP00000295888:Y411S	Y	-	2	0	WDFY3	85961620	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	7.642000	0.83385	2.174000	0.68829	0.533000	0.62120	TAC		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		G	85742596	T	G	85742596	3	3	449	1	0	0	0	0	1	0	0	0	17270	1638	57	5	9623	5	WDFY3	4	85742596	Missense_Mutation	SNP	T	TCGA-61-2009-01A-01W-0722-08	15768555	85742596	105411680	22	24803											
CARTPT	9607	broad.mit.edu	37	5	71015245	71015245	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr5:71015245C>T	ENST00000296777.4	+	1	256	c.125C>T	c.(124-126)tCt>tTt	p.S42F		NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	42					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)		p.S42F(1)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GACATCTACTCTGCCGTGGAT	0.657																																																1	Substitution - Missense(1)	ovary(1)	5											74	71	72					5																	71015245		2203	4300	6503	71051001	SO:0001583	missense	9607			U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"cocaine and amphetamine regulated transcript"	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.125C>T	5.37:g.71015245C>T	ENSP00000296777:p.Ser42Phe		71051001	Q6FG92	Missense_Mutation	SNP	ENST00000296777.4	37	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919247	0.52546	.	.	ENSG00000164326	ENST00000296777	T	0.57907	0.37	4.24	3.38	0.38709	.	0.327462	0.28161	N	0.016365	T	0.46889	0.1416	L	0.54323	1.7	0.45747	D	0.998642	B	0.15719	0.014	B	0.12156	0.007	T	0.47209	-0.9135	10	0.59425	D	0.04	.	10.8856	0.46965	0.0:0.9055:0.0:0.0945	.	42	Q16568	CART_HUMAN	F	42	ENSP00000296777:S42F	ENSP00000296777:S42F	S	+	2	0	CARTPT	71051001	0.996000	0.38824	0.998000	0.56505	0.990000	0.78478	4.557000	0.60782	1.006000	0.39211	0.561000	0.74099	TCT		0.657	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291		T	71015245	C	T	71015245	3	4	449	1	0	0	0	0	1	0	0	0	2659	913	32	2	127	2	CARTPT	5	71015245	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08		71015245	109900015	23	24804											
FBN2	2201	broad.mit.edu	37	5	127712497	127712497	+	Silent	SNP	G	G	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr5:127712497G>A	ENST00000508053.1	-	20	2873	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	FBN2_ENST00000508989.1_Silent_p.I600I|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.I633I			P35556	FBN2_HUMAN	fibrillin 2	633	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I633I(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTTCATTGATGCACATTC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	5											260	214	230					5																	127712497		2203	4300	6503	127740396	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1899C>T	5.37:g.127712497G>A			127740396	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127712497	G	A	127712497	2	1	449	1	0	0	0	0	0	0	0	1	5703	1280	45	2		2	FBN2	5	127712497	Silent	SNP	G	TCGA-61-2009-01A-01W-0722-08	56697252	127712497	53202763	24	24805											
PCDHGC5	56097	broad.mit.edu	37	5	140870891	140870891	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr5:140870891T>A	ENST00000252087.1	+	1	2084	c.2084T>A	c.(2083-2085)aTt>aAt	p.I695N	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	695					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I695N(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTACCTCATTGTGGCTCTA	0.557																																																2	Substitution - Missense(2)	ovary(2)	5											195	185	188					5																	140870891		2203	4300	6503	140851075	SO:0001583	missense	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2084T>A	5.37:g.140870891T>A	ENSP00000252087:p.Ile695Asn		140851075	Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.151736	0.78001	.	.	ENSG00000240764	ENST00000252087	T	0.63255	-0.03	4.7	4.7	0.59300	.	0.000000	0.47852	D	0.000209	T	0.77974	0.4211	M	0.75615	2.305	0.50313	D	0.999864	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.972	T	0.81351	-0.0972	10	0.87932	D	0	.	14.3219	0.66491	0.0:0.0:0.0:1.0	.	695;695	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	N	695	ENSP00000252087:I695N	ENSP00000252087:I695N	I	+	2	0	PCDHGC5	140851075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.290000	0.78711	1.965000	0.57142	0.459000	0.35465	ATT		0.557	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		A	140870891	T	A	140870891	3	1	449	1	0	0	0	0	1	0	0	0	11571	1493	52	5	2086	5	PCDHGC5	5	140870891	Missense_Mutation	SNP	T	TCGA-61-2009-01A-01W-0722-08	13158394	140870891	40044369	25	24806											
CDK19	23097	broad.mit.edu	37	6	110991680	110991680	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr6:110991680T>C	ENST00000368911.3	-	3	448	c.269A>G	c.(268-270)gAc>gGc	p.D90G	CDK19_ENST00000323817.3_Missense_Mutation_p.D30G	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.D90G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TACCTTCCTGTCACTGTGAGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	6											92	78	83					6																	110991680		2203	4300	6503	111098373	SO:0001583	missense	23097			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.269A>G	6.37:g.110991680T>C	ENSP00000357907:p.Asp90Gly		111098373	Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361461	0.82353	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000457688	T;T;T	0.65732	-0.17;-0.17;-0.17	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048184	0.85682	D	0.000000	T	0.45796	0.1360	L	0.28115	0.83	0.80722	D	1	P	0.42337	0.776	P	0.45913	0.497	T	0.56607	-0.7951	10	0.72032	D	0.01	-34.2092	14.6245	0.68611	0.0:0.0:0.0:1.0	.	90	Q9BWU1	CDK19_HUMAN	G	90;30;29;30	ENSP00000357907:D90G;ENSP00000317665:D30G;ENSP00000415621:D30G	ENSP00000317665:D30G	D	-	2	0	CDK19	111098373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.493000	0.81493	2.036000	0.60181	0.524000	0.50904	GAC		0.408	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		C	110991680	T	C	110991680	3	2	449	1	0	0	0	0	1	0	0	0	3135	1667	58	4	1283	4	CDK19	6	110991680	Missense_Mutation	SNP	T	TCGA-61-2009-01A-01W-0722-08		110991680	60123387	26	24807											
RAPGEF5	9771	broad.mit.edu	37	7	22184701	22184701	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr7:22184701C>T	ENST00000401957.2	-	10	1485	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.R563Q			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	413	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R277Q(1)|p.R565Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAGCTGCACTCGCTTGCCCAG	0.493																																																2	Substitution - Missense(2)	ovary(2)	7											71	69	69					7																	22184701		1943	4148	6091	22151226	SO:0001583	missense	9771			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.1238G>A	7.37:g.22184701C>T	ENSP00000384044:p.Arg413Gln		22151226	A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.921712	0.97105	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957	T;T	0.70631	-0.5;-0.5	6.17	6.17	0.99709	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.89622	0.6768	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91005	0.4845	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	413;563	Q92565;A8MQ07	RPGF5_HUMAN;.	Q	563;415;277;413	ENSP00000343656:R563Q;ENSP00000384044:R413Q	ENSP00000258735:R277Q	R	-	2	0	RAPGEF5	22151226	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.437000	0.80417	2.941000	0.99782	0.655000	0.94253	CGA		0.493	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		T	22184701	C	T	22184701	3	4	449	1	0	0	0	0	1	0	0	0	13050	884	31	1	532	1	RAPGEF5	7	22184701	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08		22184701	136953962	27	24808											
FIGNL1	63979	broad.mit.edu	37	7	50513667	50513667	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr7:50513667A>C	ENST00000419119.1	-	2	2872	c.1319T>G	c.(1318-1320)tTt>tGt	p.F440C	FIGNL1_ENST00000433017.1_Missense_Mutation_p.F440C|FIGNL1_ENST00000395556.2_Missense_Mutation_p.F440C|FIGNL1_ENST00000356889.4_Missense_Mutation_p.F440C			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	440					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.F440C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AGGAGGACCAAAGAGCAAAAT	0.438																																																1	Substitution - Missense(1)	ovary(1)	7											50	54	53					7																	50513667		2203	4300	6503	50481161	SO:0001583	missense	63979			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1319T>G	7.37:g.50513667A>C	ENSP00000410811:p.Phe440Cys		50481161	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091291	0.76756	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.99	5.99	0.97316	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96002	0.8698	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96374	0.9276	10	0.87932	D	0	-19.5814	15.6754	0.77316	1.0:0.0:0.0:0.0	.	440	Q6PIW4	FIGL1_HUMAN	C	440	ENSP00000349356:F440C;ENSP00000378924:F440C;ENSP00000399997:F440C;ENSP00000410811:F440C	ENSP00000349356:F440C	F	-	2	0	FIGNL1	50481161	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	TTT		0.438	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		C	50513667	A	C	50513667	3	2	449	1	0	0	0	0	1	0	0	0	5892	14	1	5	709	5	FIGNL1	7	50513667	Missense_Mutation	SNP	A	TCGA-61-2009-01A-01W-0722-08	28328966	50513667	108624996	28	24809											
KIAA1324L	222223	broad.mit.edu	37	7	86556230	86556230	+	Silent	SNP	T	T	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr7:86556230T>G	ENST00000450689.2	-	9	1277	c.1092A>C	c.(1090-1092)acA>acC	p.T364T	KIAA1324L_ENST00000444627.1_Silent_p.T364T|KIAA1324L_ENST00000297222.6_Silent_p.T124T|KIAA1324L_ENST00000416314.1_Silent_p.T197T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	364						integral component of membrane (GO:0016021)		p.T124T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACATTATCTGTGTCTACaaaa	0.373																																																1	Substitution - coding silent(1)	ovary(1)	7											51	51	51					7																	86556230		2203	4300	6503	86394166	SO:0001819	synonymous_variant	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1092A>C	7.37:g.86556230T>G			86394166	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	3.926	-0.017057	0.07681	.	.	ENSG00000164659	ENST00000423294	T	0.31510	1.49	5.23	-2.11	0.07187	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09509	-1.0671	7	0.40728	T	0.16	.	0.8648	0.01201	0.4106:0.1587:0.1132:0.3174	.	.	.	.	P	325	ENSP00000406961:T325P	ENSP00000406961:T325P	T	-	1	0	KIAA1324L	86394166	0.272000	0.24172	0.997000	0.53966	0.414000	0.31173	-0.390000	0.07332	-0.165000	0.10908	-0.490000	0.04691	ACA		0.373	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		G	86556230	T	G	86556230	2	3	449	1	0	0	0	0	0	0	0	1	8224	1683	59	5		5	KIAA1324L	7	86556230	Silent	SNP	T	TCGA-61-2009-01A-01W-0722-08	36042563	86556230	72582433	29	24810											
TNC	3371	broad.mit.edu	37	9	117844119	117844119	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr9:117844119T>A	ENST00000350763.4	-	6	2747	c.2336A>T	c.(2335-2337)tAt>tTt	p.Y779F	TNC_ENST00000341037.4_Missense_Mutation_p.Y779F|TNC_ENST00000542877.1_Missense_Mutation_p.Y779F|TNC_ENST00000346706.3_Missense_Mutation_p.Y779F|TNC_ENST00000340094.3_Missense_Mutation_p.Y779F|TNC_ENST00000345230.3_Missense_Mutation_p.Y779F|TNC_ENST00000423613.2_Missense_Mutation_p.Y779F|TNC_ENST00000535648.1_Missense_Mutation_p.Y779F|TNC_ENST00000537320.1_Missense_Mutation_p.Y779F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	779	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.Y779F(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGATATCTCATACTCTTGCCC	0.473																																																1	Substitution - Missense(1)	ovary(1)	9											112	110	111					9																	117844119		2203	4300	6503	116883940	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2336A>T	9.37:g.117844119T>A	ENSP00000265131:p.Tyr779Phe		116883940	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	33	5.258876	0.95368	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	6.08	6.08	0.98989	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94866	0.8341	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95337	0.8435	10	0.87932	D	0	.	16.643	0.85134	0.0:0.0:0.0:1.0	.	779;779	E9PC84;P24821	.;TENA_HUMAN	F	779	ENSP00000344400:Y779F;ENSP00000438152:Y779F;ENSP00000344555:Y779F;ENSP00000345861:Y779F;ENSP00000265131:Y779F;ENSP00000339553:Y779F;ENSP00000411406:Y779F;ENSP00000443478:Y779F;ENSP00000442242:Y779F	ENSP00000344400:Y779F	Y	-	2	0	TNC	116883940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.677000	0.84024	2.330000	0.79161	0.533000	0.62120	TAT		0.473	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117844119	T	A	117844119	3	1	449	1	0	0	0	0	1	0	0	0	16270	1406	49	5	4361	5	TNC	9	117844119	Missense_Mutation	SNP	T	TCGA-61-2009-01A-01W-0722-08		117844119	23369312	30	24811											
OR1L8	138881	broad.mit.edu	37	9	125330591	125330591	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr9:125330591G>C	ENST00000304865.2	-	1	247	c.166C>G	c.(166-168)Ctt>Gtt	p.L56V		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L56V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGGGTCTGAAGATGGGGGTTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	9											101	107	105					9																	125330591		2203	4300	6503	124370412	SO:0001583	missense	138881				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.166C>G	9.37:g.125330591G>C	ENSP00000306607:p.Leu56Val		124370412	A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579845	0.46006	.	.	ENSG00000171496	ENST00000304865	T	0.14022	2.54	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37393	N	0.002112	T	0.48223	0.1488	H	0.98027	4.13	0.33515	D	0.591627	D	0.67145	0.996	P	0.62649	0.905	T	0.72609	-0.4241	10	0.87932	D	0	-27.6523	10.6842	0.45833	0.0945:0.0:0.9055:0.0	.	56	Q8NGR8	OR1L8_HUMAN	V	56	ENSP00000306607:L56V	ENSP00000306607:L56V	L	-	1	0	OR1L8	124370412	1.000000	0.71417	0.793000	0.32043	0.358000	0.29455	3.336000	0.52113	2.485000	0.83878	0.449000	0.29647	CTT		0.458	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			C	125330591	G	C	125330591	3	2	449	1	0	0	0	0	1	0	0	0	10967	942	33	3	767	3	OR1L8	9	125330591	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	7486472	125330591	15882840	31	24812											
PLAU	414236	broad.mit.edu	37	10	75672760	75672760	+	Intron	SNP	G	G	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr10:75672760G>T	ENST00000409178.1	-	3	301				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.C91F|PLAU_ENST00000372762.4_Missense_Mutation_p.C55F|PLAU_ENST00000446342.1_Missense_Mutation_p.C74F	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.C91F(1)		endometrium(1)	1	Prostate(51;0.0112)					GGCCGGCCCTGCCTGCCCTGG	0.537																																																1	Substitution - Missense(1)	ovary(1)	10											69	63	65					10																	75672760		2203	4300	6503	75342766	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.39+40C>A	10.37:g.75672760G>T			75342766	Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737920	0.69304	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.92911	-3.13;-3.13;-3.13	5.78	4.84	0.62591	Kringle (5);Kringle-like fold (1);	0.098719	0.64402	D	0.000001	D	0.97666	0.9235	H	0.99143	4.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.81914	0.991;0.995;0.988;0.981	D	0.97919	1.0313	10	0.87932	D	0	.	12.2698	0.54700	0.0:0.0:0.8316:0.1684	.	74;55;91;91	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	F	74;91;55;55	ENSP00000388474:C74F;ENSP00000361850:C91F;ENSP00000361848:C55F	ENSP00000361847:C55F	C	+	2	0	PLAU	75342766	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	5.849000	0.69465	2.731000	0.93534	0.650000	0.86243	TGC		0.537	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		T	75672760	G	T	75672760	1	4	449	0	1	0	0	0	0	0	0	0	12022	1319	46	3		3	PLAU	10	75672760	Intron	SNP	G	TCGA-61-2009-01A-01W-0722-08		75672760	59861987	32	24813											
BUB3	9184	broad.mit.edu	37	10	124921870	124921870	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr10:124921870A>G	ENST00000368865.4	+	6	904	c.695A>G	c.(694-696)gAg>gGg	p.E232G	BUB3_ENST00000368859.2_Intron|BUB3_ENST00000538238.1_Missense_Mutation_p.E152G|BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000368858.5_Missense_Mutation_p.E232G	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	232					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.E232G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				AATAATATTGAGCAGATTTAC	0.373																																					GBM(161;1111 1985 17553 20049 26037)											1	Substitution - Missense(1)	ovary(1)	10											106	112	110					10																	124921870		2203	4300	6503	124911860	SO:0001583	missense	9184			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"WD repeat domain containing"	1151	protein-coding gene	gene with protein product		603719	"BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog", "budding uninhibited by benzimidazoles 3 homolog (yeast)"			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.695A>G	10.37:g.124921870A>G	ENSP00000357858:p.Glu232Gly		124911860	A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450972	0.84209	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.70045	-0.45;-0.44;-0.45;-0.45	5.62	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.76410	-0.2969	10	0.48119	T	0.1	-12.8147	11.5023	0.50446	0.9298:0.0:0.0702:0.0	.	232;232	O43684;O43684-2	BUB3_HUMAN;.	G	232;152;232;232	ENSP00000357858:E232G;ENSP00000444354:E152G;ENSP00000357851:E232G;ENSP00000383941:E232G	ENSP00000357851:E232G	E	+	2	0	BUB3	124911860	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.255000	0.95524	1.068000	0.40764	0.528000	0.53228	GAG		0.373	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			G	124921870	A	G	124921870	3	3	449	1	0	0	0	0	1	0	0	0	1572	304	11	4	713	4	BUB3	10	124921870	Missense_Mutation	SNP	A	TCGA-61-2009-01A-01W-0722-08	49249110	124921870	10612877	33	24814											
LUZP2	338645	broad.mit.edu	37	11	24998138	24998138	+	Splice_Site	SNP	C	C	G	rs572470818		TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr11:24998138C>G	ENST00000336930.6	+	8	590	c.524C>G	c.(523-525)gCg>gGg	p.A175G	LUZP2_ENST00000533227.1_Splice_Site_p.A89G			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	175	Leucine-zipper.					extracellular region (GO:0005576)		p.A175G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATTTTACAGGCGCAGCAGCTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11											55	61	59					11																	24998138		2202	4299	6501	24954714	SO:0001630	splice_region_variant	338645			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.523-1C>G	11.37:g.24998138C>G			24954714	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232739	0.58777	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.25250	1.81;1.99;1.81	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000002	T	0.36608	0.0973	N	0.20986	0.625	0.36880	D	0.889337	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.25433	-1.0132	10	0.28530	T	0.3	-7.9555	16.4555	0.84011	0.0:1.0:0.0:0.0	.	89;175	E9PN53;Q86TE4	.;LUZP2_HUMAN	G	175;133;89	ENSP00000336817:A175G;ENSP00000437032:A133G;ENSP00000432952:A89G	ENSP00000336817:A175G	A	+	2	0	LUZP2	24954714	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.066000	0.57520	2.540000	0.85666	0.650000	0.86243	GCG		0.358	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	Missense_Mutation	G	24998138	C	G	24998138	5	3	449	1	0	0	0	0	0	0	1	0	9087	782	27	3	554	3	LUZP2	11	24998138	Splice_Site	SNP	C	TCGA-61-2009-01A-01W-0722-08		24998138	110008378	34	24815											
SLCO2B1	11309	broad.mit.edu	37	11	74911328	74911328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr11:74911328C>A	ENST00000289575.5	+	11	2054	c.1659C>A	c.(1657-1659)tgC>tgA	p.C553*	SLCO2B1_ENST00000428359.2_Nonsense_Mutation_p.C531*|SLCO2B1_ENST00000532236.1_Nonsense_Mutation_p.C437*|SLCO2B1_ENST00000341411.4_Nonsense_Mutation_p.C326*|SLCO2B1_ENST00000454962.2_Nonsense_Mutation_p.C326*|SLCO2B1_ENST00000525650.1_Nonsense_Mutation_p.C409*|SLCO2B1_ENST00000531756.1_Nonsense_Mutation_p.C298*	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	553					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.C553*(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CAGGATCCTGCGACTCAACGT	0.612																																																1	Substitution - Nonsense(1)	ovary(1)	11											120	109	113					11																	74911328		2200	4293	6493	74588976	SO:0001587	stop_gained	11309			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1659C>A	11.37:g.74911328C>A	ENSP00000289575:p.Cys553*		74588976	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Nonsense_Mutation	SNP	ENST00000289575.5	37	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353929	0.61293	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	.	.	.	5.37	-8.49	0.00931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1462	0.89656	0.0:0.2034:0.0:0.7966	.	.	.	.	X	553;326;437;298;409;326;531	.	ENSP00000289575:C553X	C	+	3	2	SLCO2B1	74588976	0.011000	0.17503	0.407000	0.26434	0.055000	0.15305	-1.736000	0.01845	-1.753000	0.01323	-0.379000	0.06801	TGC		0.612	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		A	74911328	C	A	74911328	4	1	449	1	0	0	0	0	0	1	0	0	14730	776	27	3	1701	3	SLCO2B1	11	74911328	Nonsense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	49913190	74911328	60095188	35	24816											
KCTD14	65987	broad.mit.edu	37	11	77728292	77728292	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr11:77728292C>T	ENST00000353172.5	-	2	159	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	KCTD14_ENST00000533144.1_Missense_Mutation_p.V9I|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.R112H|RP11-7I15.3_ENST00000533697.1_RNA|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.R64H	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	39	BTB.				protein homooligomerization (GO:0051260)			p.V39I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TCACCCCCGACGTTCAGCTCC	0.532																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)											1	Substitution - Missense(1)	ovary(1)	11											54	53	53					11																	77728292		2200	4292	6492	77405940	SO:0001583	missense	65987			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.115G>A	11.37:g.77728292C>T	ENSP00000316482:p.Val39Ile		77405940	B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	CCDS8255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.832518|2.832518	0.50845|0.50845	.|.	.|.	ENSG00000259112|ENSG00000151364	ENST00000528251;ENST00000530054|ENST00000353172;ENST00000533144	T;T|T;T	0.58506|0.62232	0.33;0.72|0.04;0.04	4.89|4.89	3.99|3.99	0.46301|0.46301	.|BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.|0.136566	.|0.49916	.|D	.|0.000139	T|T	0.57021|0.57021	0.2025|0.2025	L|L	0.38692|0.38692	1.165|1.165	0.26865|0.26865	N|N	0.967877|0.967877	.|D	.|0.58268	.|0.982	.|P	.|0.50270	.|0.636	T|T	0.51140|0.51140	-0.8743|-0.8743	7|10	0.87932|0.44086	D|T	0|0.13	.|.	8.7995|8.7995	0.34901|0.34901	0.0:0.8311:0.0:0.1689|0.0:0.8311:0.0:0.1689	.|.	.|39	.|Q9BQ13	.|KCD14_HUMAN	H|I	64;112|39;9	ENSP00000435967:R64H;ENSP00000432614:R112H|ENSP00000316482:V39I;ENSP00000431155:V9I	ENSP00000435967:R64H|ENSP00000316482:V39I	R|V	-|-	2|1	0|0	RP11-7I15.5|KCTD14	77405940|77405940	0.985000|0.985000	0.35326|0.35326	0.764000|0.764000	0.31436|0.31436	0.959000|0.959000	0.62525|0.62525	2.657000|2.657000	0.46724|0.46724	1.281000|1.281000	0.44480|0.44480	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.532	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		T	77728292	C	T	77728292	3	4	449	1	0	0	0	0	1	0	0	0	8101	536	19	1	656	1	KCTD14	11	77728292	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	2816964	77728292	57278224	36	24817											
FAT3	120114	broad.mit.edu	37	11	92087551	92087551	+	Missense_Mutation	SNP	A	A	G	rs375393993		TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr11:92087551A>G	ENST00000298047.6	+	1	2290	c.2273A>G	c.(2272-2274)aAt>aGt	p.N758S	FAT3_ENST00000409404.2_Missense_Mutation_p.N758S|FAT3_ENST00000541502.1_Missense_Mutation_p.N758S|FAT3_ENST00000525166.1_Missense_Mutation_p.N608S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	758	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T764A(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGGCTTCAATGGAAAAGTG	0.408										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11						A	SER/ASN	1,3827		0,1,1913	125	126	125		2273	5.8	1	11		125	0,8274		0,0,4137	no	missense	FAT3	NM_001008781.2	46	0,1,6050	GG,GA,AA		0.0,0.0261,0.0083	possibly-damaging	758/4558	92087551	1,12101	1914	4137	6051	91727199	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2273A>G	11.37:g.92087551A>G	ENSP00000298047:p.Asn758Ser		91727199	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	14.99	2.699522	0.48307	2.61E-4	0.0	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.77	5.77	0.91146	.	.	.	.	.	T	0.75250	0.3824	M	0.83603	2.65	0.44595	D	0.997567	D	0.76494	0.999	D	0.83275	0.996	T	0.77400	-0.2602	9	0.49607	T	0.09	.	9.721	0.40302	0.9233:0.0:0.0766:0.0	.	758	Q8TDW7-3	.	S	758;758;758;608	ENSP00000298047:N758S;ENSP00000387040:N758S;ENSP00000443786:N758S;ENSP00000432586:N608S	ENSP00000298047:N758S	N	+	2	0	FAT3	91727199	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.500000	0.81588	2.204000	0.70986	0.383000	0.25322	AAT		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92087551	A	G	92087551	3	3	449	1	0	0	0	0	1	0	0	0	5691	101	4	4	2275	4	FAT3	11	92087551	Missense_Mutation	SNP	A	TCGA-61-2009-01A-01W-0722-08	14359259	92087551	42918965	37	24818											
ETV6	2120	broad.mit.edu	37	12	12037492	12037492	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr12:12037492G>C	ENST00000396373.4	+	6	1397	c.1123G>C	c.(1123-1125)Gga>Cga	p.G375R		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	375					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G375R(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GGATCCCAACGGACTGGCTCG	0.463			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	1	Substitution - Missense(1)	ovary(1)	12											92	87	89					12																	12037492		2203	4300	6503	11928759	SO:0001583	missense	2120			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1123G>C	12.37:g.12037492G>C	ENSP00000379658:p.Gly375Arg		11928759	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085985	0.94100	.	.	ENSG00000139083	ENST00000396373	T	0.13420	2.59	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.053475	0.85682	D	0.000000	T	0.28001	0.0690	N	0.25647	0.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01734	-1.1285	10	0.54805	T	0.06	.	19.2738	0.94021	0.0:0.0:1.0:0.0	.	375	P41212	ETV6_HUMAN	R	375	ENSP00000379658:G375R	ENSP00000379658:G375R	G	+	1	0	ETV6	11928759	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	GGA		0.463	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		C	12037492	G	C	12037492	3	2	449	1	0	0	0	0	1	0	0	0	5283	1117	39	3	1145	3	ETV6	12	12037492	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08		12037492	121814403	38	24819											
OVCH1	341350	broad.mit.edu	37	12	29629180	29629180	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr12:29629180G>A	ENST00000318184.5	-	13	1429	c.1430C>T	c.(1429-1431)gCt>gTt	p.A477V	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	477	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.A477V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATCACAACAGCATCATAAAT	0.378																																																1	Substitution - Missense(1)	ovary(1)	12											191	181	184					12																	29629180		1871	4111	5982	29520447	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1430C>T	12.37:g.29629180G>A	ENSP00000326708:p.Ala477Val		29520447		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	G	12.04	1.818224	0.32145	.	.	ENSG00000187950	ENST00000318184	T	0.57752	0.38	2.49	1.56	0.23342	CUB (5);	.	.	.	.	T	0.50360	0.1611	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	P	0.61328	0.887	T	0.42378	-0.9455	9	0.17832	T	0.49	.	10.4034	0.44243	0.0:0.2023:0.7977:0.0	.	477	Q7RTY7	OVCH1_HUMAN	V	477	ENSP00000326708:A477V	ENSP00000326708:A477V	A	-	2	0	OVCH1	29520447	0.005000	0.15991	0.046000	0.18839	0.070000	0.16714	0.563000	0.23547	0.585000	0.29608	0.650000	0.86243	GCT		0.378	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		A	29629180	G	A	29629180	3	1	449	1	0	0	0	0	1	0	0	0	11323	971	34	2	2038	2	OVCH1	12	29629180	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	17591688	29629180	104222715	39	24820											
SLC38A4	55089	broad.mit.edu	37	12	47181808	47181808	+	Missense_Mutation	SNP	C	C	T	rs562561657		TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr12:47181808C>T	ENST00000447411.1	-	4	423	c.217G>A	c.(217-219)Gga>Aga	p.G73R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G73R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	73					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.G73R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GAAGTGGTTCCGGGATGCTTG	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		20728	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	12											83	78	80					12																	47181808		2203	4300	6503	45468075	SO:0001583	missense	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.217G>A	12.37:g.47181808C>T	ENSP00000389843:p.Gly73Arg		45468075	A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288411	0.95517	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	T;T;T;T	0.29917	3.31;3.31;1.79;1.55	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.52487	-0.8569	10	0.51188	T	0.08	-14.5934	19.5612	0.95373	0.0:1.0:0.0:0.0	.	73	Q969I6	S38A4_HUMAN	R	73	ENSP00000389843:G73R;ENSP00000266579:G73R;ENSP00000450071:G73R;ENSP00000448543:G73R	ENSP00000266579:G73R	G	-	1	0	SLC38A4	45468075	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.776000	0.85560	2.687000	0.91594	0.655000	0.94253	GGA		0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			T	47181808	C	T	47181808	3	4	449	1	0	0	0	0	1	0	0	0	14609	661	23	1	1478	1	SLC38A4	12	47181808	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	17552628	47181808	86670087	40	24821											
ACTR6	64431	broad.mit.edu	37	12	100612251	100612251	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr12:100612251T>G	ENST00000188312.2	+	9	1574	c.809T>G	c.(808-810)tTg>tGg	p.L270W	ACTR6_ENST00000551617.1_Missense_Mutation_p.L188W|ACTR6_ENST00000552376.1_Missense_Mutation_p.L270W|ACTR6_ENST00000546902.1_Missense_Mutation_p.L188W	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	270						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.L270W(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						ATTCTTCGTTTGGCCAATGAG	0.343																																																1	Substitution - Missense(1)	ovary(1)	12											88	85	86					12																	100612251		2203	4300	6503	99136382	SO:0001583	missense	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.809T>G	12.37:g.100612251T>G	ENSP00000188312:p.Leu270Trp		99136382	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856431	0.91355	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.985;0.985;0.984;0.99	D	0.98737	1.0715	10	0.87932	D	0	.	16.1839	0.81934	0.0:0.0:0.0:1.0	.	188;188;270;270	G3V1Y1;F8VSD1;F8W057;Q9GZN1	.;.;.;ARP6_HUMAN	W	270;188;270;188	ENSP00000188312:L270W;ENSP00000448669:L188W;ENSP00000447237:L270W;ENSP00000448356:L188W	ENSP00000188312:L270W	L	+	2	0	ACTR6	99136382	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	7.403000	0.79983	2.222000	0.72286	0.533000	0.62120	TTG		0.343	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		G	100612251	T	G	100612251	3	3	449	1	0	0	0	0	1	0	0	0	216	1821	63	5	843	5	ACTR6	12	100612251	Missense_Mutation	SNP	T	TCGA-61-2009-01A-01W-0722-08	53430443	100612251	33239644	41	24822											
B3GNT4	79369	broad.mit.edu	37	12	122691196	122691196	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr12:122691196G>A	ENST00000324189.4	+	3	754	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	B3GNT4_ENST00000535274.1_Missense_Mutation_p.R108Q|B3GNT4_ENST00000546192.1_Missense_Mutation_p.R108Q|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	133					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.R133Q(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CACGTGGAGCGACGTGCGGCT	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											102	105	104					12																	122691196		2203	4300	6503	121257149	SO:0001583	missense	79369			AB049586	CCDS9227.1	12q24	2013-02-19						"Beta 3-glycosyltransferases"	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.398G>A	12.37:g.122691196G>A	ENSP00000319636:p.Arg133Gln		121257149	Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	G	9.980	1.228003	0.22542	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.51817	0.69;0.69;0.69	5.0	-1.27	0.09347	.	0.600069	0.13961	N	0.350819	T	0.26304	0.0642	N	0.16016	0.355	0.19300	N	0.99998	B	0.24882	0.113	B	0.20384	0.029	T	0.14868	-1.0457	10	0.31617	T	0.26	.	9.9671	0.41732	0.4297:0.0:0.5703:0.0	.	133	Q9C0J1	B3GN4_HUMAN	Q	133;108;108	ENSP00000319636:R133Q;ENSP00000438840:R108Q;ENSP00000444534:R108Q	ENSP00000319636:R133Q	R	+	2	0	B3GNT4	121257149	0.779000	0.28652	0.002000	0.10522	0.123000	0.20343	1.690000	0.37711	-0.229000	0.09854	-0.126000	0.14955	CGA		0.622	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		A	122691196	G	A	122691196	3	1	449	1	0	0	0	0	1	0	0	0	1259	1058	37	1	404	1	B3GNT4	12	122691196	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	22078945	122691196	11160699	42	24823											
UTP14C	9724	broad.mit.edu	37	13	52604325	52604325	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr13:52604325C>T	ENST00000521776.2	+	2	2118	c.1385C>T	c.(1384-1386)tCt>tTt	p.S462F		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	462					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.S462F(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGGCACTATCTCAGAAATTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	13											92	97	96					13																	52604325		2203	4300	6503	51502326	SO:0001583	missense	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1385C>T	13.37:g.52604325C>T	ENSP00000428619:p.Ser462Phe		51502326	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	6.091	0.385021	0.11524	.	.	ENSG00000253797	ENST00000521776	T	0.19806	2.12	2.91	2.91	0.33838	.	0.852655	0.11048	N	0.605351	T	0.21387	0.0515	L	0.58925	1.835	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.13415	-1.0510	9	.	.	.	-1.7969	9.3827	0.38325	0.0:1.0:0.0:0.0	.	462	Q5TAP6	UT14C_HUMAN	F	462	ENSP00000428619:S462F	.	S	+	2	0	UTP14C	51502326	0.002000	0.14202	0.081000	0.20488	0.038000	0.13279	0.213000	0.17521	1.636000	0.50526	0.462000	0.41574	TCT		0.493	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		T	52604325	C	T	52604325	3	4	449	1	0	0	0	0	1	0	0	0	17096	913	32	2	1387	2	UTP14C	13	52604325	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08		52604325	62565553	43	24824											
DCT	1638	broad.mit.edu	37	13	95121160	95121160	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr13:95121160T>G	ENST00000377028.5	-	2	848	c.435A>C	c.(433-435)ttA>ttC	p.L145F	DCT_ENST00000446125.1_Missense_Mutation_p.L145F|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	145					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.L145F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCGCGAGATCTAAGGCGCCCA	0.567																																																1	Substitution - Missense(1)	ovary(1)	13											225	223	224					13																	95121160		2203	4300	6503	93919161	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.435A>C	13.37:g.95121160T>G	ENSP00000366227:p.Leu145Phe		93919161	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183623	0.38609	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99113	-5.44;-5.44	5.79	1.37	0.22104	Uncharacterised domain, di-copper centre (2);	0.067025	0.64402	D	0.000011	D	0.98785	0.9591	M	0.87097	2.86	0.58432	D	0.999998	D;P	0.58268	0.982;0.941	P;P	0.54140	0.743;0.536	D	0.97864	1.0282	9	.	.	.	-7.3318	10.3188	0.43753	0.0:0.5362:0.0:0.4638	.	145;145	Q09GT4;P40126	.;TYRP2_HUMAN	F	145	ENSP00000366227:L145F;ENSP00000392762:L145F	.	L	-	3	2	DCT	93919161	1.000000	0.71417	0.642000	0.29436	0.023000	0.10783	0.838000	0.27572	-0.076000	0.12775	-0.250000	0.11733	TTA		0.567	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			G	95121160	T	G	95121160	3	3	449	1	0	0	0	0	1	0	0	0	4304	1519	53	5	1259	5	DCT	13	95121160	Missense_Mutation	SNP	T	TCGA-61-2009-01A-01W-0722-08	42516835	95121160	20048718	44	24825											
CHD8	57680	broad.mit.edu	37	14	21896413	21896413	+	Splice_Site	SNP	C	C	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr14:21896413C>G	ENST00000557364.1	-	4	1479	c.1216G>C	c.(1216-1218)Gct>Cct	p.A406P	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Splice_Site_p.A127P|CHD8_ENST00000399982.2_Splice_Site_p.A406P|RN7SL650P_ENST00000583681.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	406	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.A406P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAAGAGCCAGCCTATAGAAAC	0.448																																																1	Substitution - Missense(1)	ovary(1)	14											52	50	50					14																	21896413		1818	4072	5890	20966253	SO:0001630	splice_region_variant	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1216-1G>C	14.37:g.21896413C>G			20966253	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492492	0.44352	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.90197	-2.63;-2.61;-2.61	5.7	5.7	0.88788	.	0.059107	0.64402	D	0.000002	D	0.88284	0.6395	N	0.19112	0.55	0.42485	D	0.992877	D	0.62365	0.991	P	0.56514	0.8	D	0.83729	0.0197	10	0.02654	T	1	-11.8709	18.6031	0.91256	0.0:1.0:0.0:0.0	.	127	Q9HCK8-2	.	P	127;406;126;406	ENSP00000406288:A127P;ENSP00000382863:A406P;ENSP00000451601:A406P	ENSP00000262707:A126P	A	-	1	0	CHD8	20966253	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.969000	0.49232	2.687000	0.91594	0.563000	0.77884	GCT		0.448	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	Missense_Mutation	G	21896413	C	G	21896413	5	3	449	1	0	0	0	0	0	0	1	0	3331	753	26	3	6669	3	CHD8	14	21896413	Splice_Site	SNP	C	TCGA-61-2009-01A-01W-0722-08		21896413	85453127	45	24826											
DDX24	57062	broad.mit.edu	37	14	94521519	94521519	+	Silent	SNP	G	G	A	rs369246793		TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr14:94521519G>A	ENST00000330836.5	-	7	2132	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	DDX24_ENST00000555054.1_Silent_p.T624T|DDX24_ENST00000544005.1_Silent_p.T417T	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	667	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.T667T(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AAATCTCCGAGGTACGTGGGA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	14						G		0,4406		0,0,2203	72	67	69		2001	-0.6	0.9	14		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DDX24	NM_020414.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		667/860	94521519	1,13005	2203	4300	6503	93591272	SO:0001819	synonymous_variant	57062			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2001C>T	14.37:g.94521519G>A			93591272	E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	37	CCDS9918.1																																																																																				0.537	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		A	94521519	G	A	94521519	2	1	449	1	0	0	0	0	0	0	0	1	4351	987	35	2		2	DDX24	14	94521519	Silent	SNP	G	TCGA-61-2009-01A-01W-0722-08	72625106	94521519	12828021	46	24827											
CILP	8483	broad.mit.edu	37	15	65499326	65499326	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr15:65499326C>T	ENST00000261883.4	-	4	384	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	73					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R73Q(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGCGTCCAGCCGCTCATAGTC	0.612																																																1	Substitution - Missense(1)	ovary(1)	15											53	43	46					15																	65499326		2201	4299	6500	63286379	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.218G>A	15.37:g.65499326C>T	ENSP00000261883:p.Arg73Gln		63286379	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118610	0.56505	.	.	ENSG00000138615	ENST00000261883	T	0.16743	2.32	5.58	4.64	0.57946	.	0.162448	0.56097	D	0.000028	T	0.13200	0.0320	L	0.40543	1.245	0.38915	D	0.957603	P	0.35684	0.515	B	0.25405	0.06	T	0.07616	-1.0763	10	0.37606	T	0.19	-20.8633	13.4491	0.61161	0.1579:0.8421:0.0:0.0	.	73	O75339	CILP1_HUMAN	Q	73	ENSP00000261883:R73Q	ENSP00000261883:R73Q	R	-	2	0	CILP	63286379	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	4.454000	0.60068	1.300000	0.44818	0.561000	0.74099	CGG		0.612	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		T	65499326	C	T	65499326	3	4	449	1	0	0	0	0	1	0	0	0	3429	652	23	1	3360	1	CILP	15	65499326	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08		65499326	37032066	47	24828											
CDH11	1009	broad.mit.edu	37	16	65005940	65005940	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr16:65005940G>C	ENST00000268603.4	-	10	2033	c.1418C>G	c.(1417-1419)cCa>cGa	p.P473R	CDH11_ENST00000566827.1_Missense_Mutation_p.P347R|CDH11_ENST00000394156.3_Missense_Mutation_p.P473R	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	473	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P473R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AATGGCCACTGGGACTTTGGC	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	1	Substitution - Missense(1)	ovary(1)	16											101	87	92					16																	65005940		2203	4300	6503	63563441	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1418C>G	16.37:g.65005940G>C	ENSP00000268603:p.Pro473Arg		63563441	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100018	0.37048	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01685	4.69;4.69	5.91	5.91	0.95273	Cadherin (5);Cadherin-like (1);	0.161528	0.56097	D	0.000027	T	0.02767	0.0083	L	0.37561	1.115	0.50039	D	0.999847	B;B	0.21606	0.058;0.009	B;B	0.18561	0.022;0.012	T	0.58352	-0.7651	10	0.44086	T	0.13	.	19.2845	0.94065	0.0:0.0:1.0:0.0	.	473;473	P55287-2;P55287	.;CAD11_HUMAN	R	473;473;456	ENSP00000268603:P473R;ENSP00000377711:P473R	ENSP00000268603:P473R	P	-	2	0	CDH11	63563441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.456000	0.53000	2.813000	0.96785	0.655000	0.94253	CCA		0.478	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		C	65005940	G	C	65005940	3	2	449	1	0	0	0	0	1	0	0	0	3097	1348	47	3	988	3	CDH11	16	65005940	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08		65005940	25348813	48	24829											
TAT	6898	broad.mit.edu	37	16	71610312	71610312	+	Missense_Mutation	SNP	G	G	A	rs548790465		TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr16:71610312G>A	ENST00000355962.4	-	2	140	c.7C>T	c.(7-9)Cca>Tca	p.P3S	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	3					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.P3S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	ATCATGTATGGGTCCATCACT	0.507													G|||	1	0.000199681	8e-04	0	5008	,	,		19154	0		0	False		,,,				2504	0				Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											1	Substitution - Missense(1)	ovary(1)	16											89	90	90					16																	71610312		2198	4300	6498	70167813	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.7C>T	16.37:g.71610312G>A	ENSP00000348234:p.Pro3Ser		70167813	B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934256	0.34096	.	.	ENSG00000198650	ENST00000355962	T	0.78364	-1.17	6.06	-2.14	0.07123	Tyrosine aminotransferase ubiquitination region (1);	1.556390	0.03537	N	0.223376	T	0.52256	0.1723	N	0.04508	-0.205	0.23095	N	0.998309	B;B;B	0.13145	0.007;0.001;0.001	B;B;B	0.12837	0.008;0.001;0.001	T	0.46400	-0.9194	10	0.08837	T	0.75	0.0418	6.149	0.20301	0.43:0.3283:0.2417:0.0	.	3;3;3	Q8WW92;A1L4G7;P17735	.;.;ATTY_HUMAN	S	3	ENSP00000348234:P3S	ENSP00000348234:P3S	P	-	1	0	TAT	70167813	0.990000	0.36364	0.896000	0.35187	0.849000	0.48306	0.261000	0.18442	-0.276000	0.09206	-0.136000	0.14681	CCA		0.507	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			A	71610312	G	A	71610312	3	1	449	1	0	0	0	0	1	0	0	0	15590	1232	43	2	1401	2	TAT	16	71610312	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	6604372	71610312	18744441	49	24830											
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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"	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	17											50	52	51					17																	7578461		2202	4300	6502	7519186	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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe		7519186	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578461	C	A	7578461	3	1	449	1	0	0	0	0	1	0	0	0	16381	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08		7578461	73616749	50	24831											
OMG	4974	broad.mit.edu	37	17	29622592	29622592	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr17:29622592G>A	ENST00000247271.4	-	2	1019	c.758C>T	c.(757-759)cCa>cTa	p.P253L	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	253					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)|p.P253L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GGTAGAACATGGAGTCCCTAT	0.393																																																12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17											168	143	151					17																	29622592		2203	4300	6503	26646718	SO:0001583	missense	4974				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.758C>T	17.37:g.29622592G>A	ENSP00000247271:p.Pro253Leu		26646718	E1P659	Missense_Mutation	SNP	ENST00000247271.4	37	CCDS11265.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078855	0.36662	.	.	ENSG00000126861	ENST00000247271	T	0.51325	0.71	5.54	4.57	0.56435	.	0.101722	0.43747	D	0.000522	T	0.35856	0.0946	N	0.24115	0.695	0.80722	D	1	B	0.13145	0.007	B	0.15052	0.012	T	0.13361	-1.0512	10	0.48119	T	0.1	-3.2877	14.6299	0.68647	0.0702:0.0:0.9298:0.0	.	253	P23515	OMGP_HUMAN	L	253	ENSP00000247271:P253L	ENSP00000247271:P253L	P	-	2	0	OMG	26646718	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.496000	0.90485	1.479000	0.48272	0.650000	0.86243	CCA		0.393	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544		A	29622592	G	A	29622592	3	1	449	1	0	0	0	0	1	0	0	0	10866	1348	47	2	568	2	OMG	17	29622592	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	22044131	29622592	51572618	51	24832											
EVI2A	2123	broad.mit.edu	37	17	29645986	29645986	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr17:29645986A>G	ENST00000462804.2	-	2	445	c.46T>C	c.(46-48)Ttt>Ctt	p.F16L	NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000247270.3_Missense_Mutation_p.F39L|EVI2A_ENST00000461237.1_Missense_Mutation_p.F16L|NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	16					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)|p.F39L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTCATCAGAAAGGCAAGATGT	0.398																																																12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17											211	201	204					17																	29645986		2203	4300	6503	26670112	SO:0001583	missense	2123			M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.46T>C	17.37:g.29645986A>G	ENSP00000420557:p.Phe16Leu		26670112	B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.343801	0.41498	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.31	2.75	0.32379	.	0.279448	0.31335	N	0.007838	T	0.47637	0.1456	L	0.50333	1.59	0.80722	D	1	B;B	0.20887	0.049;0.04	B;B	0.23150	0.044;0.043	T	0.38564	-0.9655	9	0.33940	T	0.23	.	8.4811	0.33043	0.8163:0.0:0.1837:0.0	.	16;39	P22794;P22794-2	EVI2A_HUMAN;.	L	16;12;16;39	.	ENSP00000247270:F39L	F	-	1	0	EVI2A	26670112	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	1.623000	0.37008	0.862000	0.35528	0.533000	0.62120	TTT		0.398	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		G	29645986	A	G	29645986	3	3	449	1	0	0	0	0	1	0	0	0	5287	72	3	4	668	4	EVI2A	17	29645986	Missense_Mutation	SNP	A	TCGA-61-2009-01A-01W-0722-08	23394	29645986	51549224	52	24833											
KRTAP9-8	83901	broad.mit.edu	37	17	39394650	39394650	+	Missense_Mutation	SNP	G	G	C	rs556439657	byFrequency	TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr17:39394650G>C	ENST00000254072.6	+	1	354	c.347G>C	c.(346-348)tGc>tCc	p.C116S		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	116	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)		p.C116S(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCTGGTTGCCTAAACCAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	17											92	112	106					17																	39394650		2105	4300	6405	36648176	SO:0001583	missense	83901			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"Keratin associated proteins"	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.347G>C	17.37:g.39394650G>C	ENSP00000254072:p.Cys116Ser		36648176		Missense_Mutation	SNP	ENST00000254072.6	37	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.720638	0.30503	.	.	ENSG00000187272	ENST00000254072	T	0.01221	5.15	2.1	1.09	0.20402	.	.	.	.	.	T	0.04907	0.0132	M	0.68317	2.08	0.09310	N	1	D	0.54772	0.968	D	0.69824	0.966	T	0.37384	-0.9708	9	0.56958	D	0.05	.	3.4405	0.07461	0.399:0.0:0.601:0.0	.	116	Q9BYQ0	KRA98_HUMAN	S	116	ENSP00000254072:C116S	ENSP00000254072:C116S	C	+	2	0	KRTAP9-8	36648176	0.107000	0.21998	0.009000	0.14445	0.164000	0.22412	0.315000	0.19451	1.105000	0.41606	0.508000	0.49915	TGC		0.617	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			C	39394650	G	C	39394650	3	2	449	1	0	0	0	0	1	0	0	0	8576	1319	46	3	349	3	KRTAP9-8	17	39394650	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08	9748664	39394650	41800560	53	24834											
ITGA3	3675	broad.mit.edu	37	17	48149481	48149481	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr17:48149481C>G	ENST00000320031.8	+	7	1421	c.1091C>G	c.(1090-1092)cCc>cGc	p.P364R	ITGA3_ENST00000544892.1_Missense_Mutation_p.P139R|ITGA3_ENST00000007722.7_Missense_Mutation_p.P364R	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	364					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.P364R(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTTCATGGCCCCAGTGGCTCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	17											146	117	127					17																	48149481		2203	4300	6503	45504480	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1091C>G	17.37:g.48149481C>G	ENSP00000315190:p.Pro364Arg		45504480	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006669	0.74932	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.71698	-0.59;2.81;2.81	5.55	5.55	0.83447	.	0.157867	0.56097	D	0.000024	T	0.78046	0.4222	L	0.51853	1.615	0.47123	D	0.999327	D;D	0.76494	0.999;0.999	D;D	0.76071	0.983;0.987	T	0.72343	-0.4322	10	0.17369	T	0.5	.	13.9626	0.64191	0.0:0.8478:0.1522:0.0	.	364;364	P26006-1;P26006	.;ITA3_HUMAN	R	139;364;350;364	ENSP00000446133:P139R;ENSP00000007722:P364R;ENSP00000315190:P364R	ENSP00000007722:P364R	P	+	2	0	ITGA3	45504480	0.975000	0.34042	1.000000	0.80357	0.898000	0.52572	3.704000	0.54815	2.620000	0.88729	0.563000	0.77884	CCC		0.557	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		G	48149481	C	G	48149481	3	3	449	1	0	0	0	0	1	0	0	0	7877	623	22	3	1117	3	ITGA3	17	48149481	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	8754831	48149481	33045729	54	24835											
EPX	8288	broad.mit.edu	37	17	56281620	56281620	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr17:56281620C>A	ENST00000225371.5	+	12	2094	c.1984C>A	c.(1984-1986)Cag>Aag	p.Q662K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	662					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Q662K(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CACCAAAAGACAGCGCAAGGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	17											105	92	97					17																	56281620		2203	4300	6503	53636619	SO:0001583	missense	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1984C>A	17.37:g.56281620C>A	ENSP00000225371:p.Gln662Lys		53636619	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985801	0.93044	.	.	ENSG00000121053	ENST00000225371	T	0.70986	-0.53	5.65	5.65	0.86999	.	0.102568	0.64402	D	0.000002	D	0.89760	0.6808	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.92799	0.6255	10	0.87932	D	0	-10.2799	17.2336	0.86991	0.0:1.0:0.0:0.0	.	662	P11678	PERE_HUMAN	K	662	ENSP00000225371:Q662K	ENSP00000225371:Q662K	Q	+	1	0	EPX	53636619	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.673000	0.68109	2.660000	0.90430	0.655000	0.94253	CAG		0.493	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		A	56281620	C	A	56281620	3	1	449	1	0	0	0	0	1	0	0	0	5200	479	17	3	2030	3	EPX	17	56281620	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	8132139	56281620	24913590	55	24836											
TEX14	56155	broad.mit.edu	37	17	56661918	56661918	+	Silent	SNP	A	A	G			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr17:56661918A>G	ENST00000240361.8	-	19	3217	c.3132T>C	c.(3130-3132)caT>caC	p.H1044H	TEX14_ENST00000389934.3_Silent_p.H1038H|TEX14_ENST00000349033.5_Silent_p.H1038H			Q8IWB6	TEX14_HUMAN	testis expressed 14	1044					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.H1038H(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCTTCACTATGCTCTGGTT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	17											207	174	185					17																	56661918		2203	4300	6503	54016917	SO:0001819	synonymous_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3132T>C	17.37:g.56661918A>G			54016917	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.438	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			G	56661918	A	G	56661918	2	3	449	1	0	0	0	0	0	0	0	1	15778	446	16	4		4	TEX14	17	56661918	Silent	SNP	A	TCGA-61-2009-01A-01W-0722-08	380298	56661918	24533292	56	24837											
HELZ	9931	broad.mit.edu	37	17	65199441	65199441	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr17:65199441C>A	ENST00000358691.5	-	6	532	c.366G>T	c.(364-366)gaG>gaT	p.E122D	HELZ_ENST00000580168.1_Missense_Mutation_p.E122D|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	122						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E122D(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATACCAGGGACTCTCCTGTGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	17											104	103	103					17																	65199441		1912	4130	6042	62629903	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.366G>T	17.37:g.65199441C>A	ENSP00000351524:p.Glu122Asp		62629903	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184094	0.38609	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.86956	-2.19;0.96	6.06	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	L	0.29908	0.895	0.48395	D	0.999646	D;D;D	0.71674	0.984;0.998;0.983	D;D;P	0.77557	0.956;0.99;0.829	D	0.84630	0.0689	10	0.38643	T	0.18	-20.3853	7.7691	0.28997	0.0:0.7189:0.0:0.2811	.	122;122;122	B7ZLW2;F8WBX6;P42694	.;.;HELZ_HUMAN	D	122	ENSP00000351524:E122D;ENSP00000411144:E122D	ENSP00000351524:E122D	E	-	3	2	HELZ	62629903	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.506000	0.35747	0.901000	0.36495	0.650000	0.86243	GAG		0.413	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		A	65199441	C	A	65199441	3	1	449	1	0	0	0	0	1	0	0	0	7049	564	20	3	5574	3	HELZ	17	65199441	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	8537523	65199441	15995769	57	24838											
ABCA8	10351	broad.mit.edu	37	17	66902287	66902287	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr17:66902287C>A	ENST00000269080.2	-	17	2313	c.2176G>T	c.(2176-2178)Gat>Tat	p.D726Y	ABCA8_ENST00000430352.2_Missense_Mutation_p.D766Y|ABCA8_ENST00000586539.1_Missense_Mutation_p.D766Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	726					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.D726Y(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGATAGCTATCAAGATCCTTG	0.313																																																1	Substitution - Missense(1)	ovary(1)	17											99	99	99					17																	66902287		2203	4298	6501	64413882	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2176G>T	17.37:g.66902287C>A	ENSP00000269080:p.Asp726Tyr		64413882	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521375	0.64747	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.84223	-1.82;-1.82	5.38	5.38	0.77491	.	0.000000	0.56097	D	0.000029	D	0.94889	0.8348	H	0.95187	3.635	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.986;0.971;0.997;0.986	D	0.95906	0.8919	10	0.87932	D	0	.	17.8699	0.88808	0.0:1.0:0.0:0.0	.	705;766;766;766;726	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	Y	726;766;705	ENSP00000269080:D726Y;ENSP00000402814:D766Y	ENSP00000269080:D726Y	D	-	1	0	ABCA8	64413882	1.000000	0.71417	0.852000	0.33557	0.616000	0.37450	3.842000	0.55858	2.801000	0.96364	0.655000	0.94253	GAT		0.313	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		A	66902287	C	A	66902287	3	1	449	1	0	0	0	0	1	0	0	0	38	826	29	3	2657	3	ABCA8	17	66902287	Missense_Mutation	SNP	C	TCGA-61-2009-01A-01W-0722-08	1702846	66902287	14292923	58	24839											
MYO5B	4645	broad.mit.edu	37	18	47463665	47463665	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr18:47463665G>T	ENST00000285039.7	-	15	2154	c.1855C>A	c.(1855-1857)Ccc>Acc	p.P619T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	619	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.P619T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTCATGGGGGGTCTGGCAGAA	0.577																																																1	Substitution - Missense(1)	ovary(1)	18											109	107	108					18																	47463665		1971	4165	6136	45717663	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1855C>A	18.37:g.47463665G>T	ENSP00000285039:p.Pro619Thr		45717663	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	6.182	0.401683	0.11696	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.86694	-2.16	5.26	4.38	0.52667	Myosin head, motor domain (2);	0.135917	0.51477	D	0.000091	T	0.81659	0.4869	L	0.37507	1.11	0.80722	D	1	B;B	0.18013	0.018;0.025	B;B	0.22753	0.021;0.041	T	0.75453	-0.3312	10	0.25106	T	0.35	.	14.7746	0.69713	0.0:0.1456:0.8544:0.0	.	618;619	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	T	619;618	ENSP00000285039:P619T	ENSP00000285039:P619T	P	-	1	0	MYO5B	45717663	0.986000	0.35501	0.993000	0.49108	0.314000	0.28054	1.501000	0.35693	1.207000	0.43291	-0.315000	0.08773	CCC		0.577	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47463665	G	T	47463665	3	4	449	1	0	0	0	0	1	0	0	0	10079	1261	44	3	3795	3	MYO5B	18	47463665	Missense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08		47463665	30613583	59	24840											
KIF3B	9371	broad.mit.edu	37	20	30914650	30914650	+	Nonsense_Mutation	SNP	G	G	T	rs200067481		TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr20:30914650G>T	ENST00000375712.3	+	6	1992	c.1825G>T	c.(1825-1827)Gaa>Taa	p.E609*	KIF3B_ENST00000418717.2_Nonsense_Mutation_p.E235*	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	609	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.E609*(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGATGAAGAGGAAGATCATTG	0.338																																																1	Substitution - Nonsense(1)	ovary(1)	20											100	110	107					20																	30914650		2203	4300	6503	30378311	SO:0001587	stop_gained	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1825G>T	20.37:g.30914650G>T	ENSP00000364864:p.Glu609*		30378311	B2RMP4|B4DSR5|E1P5M5	Nonsense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	39	7.842805	0.98519	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	.	.	.	5.74	5.74	0.90152	.	0.145332	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	.	.	.	X	609;235	.	ENSP00000364864:E609X	E	+	1	0	KIF3B	30378311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.458000	0.80787	2.873000	0.98535	0.561000	0.74099	GAA		0.338	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		T	30914650	G	T	30914650	4	4	449	1	0	0	0	0	0	1	0	0	8301	1175	41	3	1843	3	KIF3B	20	30914650	Nonsense_Mutation	SNP	G	TCGA-61-2009-01A-01W-0722-08		30914650	32110870	60	24841											
EPB41L1	2036	broad.mit.edu	37	20	34797484	34797484	+	Silent	SNP	C	C	T			TCGA-61-2009-01A-01W-0722-08	TCGA-61-2009-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fb77f29a-a60d-4513-8ec2-dba21eb9b755	88b66794-ff53-454f-89f4-cd4927c8191e	g.chr20:34797484C>T	ENST00000338074.2	+	15	1904	c.1743C>T	c.(1741-1743)ggC>ggT	p.G581G	EPB41L1_ENST00000373941.1_Silent_p.G581G|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Silent_p.G472G|EPB41L1_ENST00000441639.1_Silent_p.G507G|EPB41L1_ENST00000202028.5_Silent_p.G507G|EPB41L1_ENST00000479336.1_3'UTR	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	581					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.G581G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GTGACACAGGCGATGAGGACC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	20											86	80	82					20																	34797484		2203	4300	6503	34260898	SO:0001819	synonymous_variant	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1743C>T	20.37:g.34797484C>T			34260898	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	CCDS13271.1																																																																																				0.572	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		T	34797484	C	T	34797484	2	4	449	1	0	0	0	0	0	0	0	1	5152	755	27	1		1	EPB41L1	20	34797484	Silent	SNP	C	TCGA-61-2009-01A-01W-0722-08	3882834	34797484	28228036	61	24842											
MRPS15	64960	broad.mit.edu	37	1	36921912	36921912	+	Missense_Mutation	SNP	C	C	T	rs80215530	byFrequency	TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:36921912C>T	ENST00000373116.5	-	7	673	c.512G>A	c.(511-513)cGt>cAt	p.R171H	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	171					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R171H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTGGTGTTACGGAGGTTTTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											94	89	90					1																	36921912		2203	4300	6503	36694499	SO:0001583	missense	64960			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"Mitochondrial ribosomal proteins / small subunits"	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.512G>A	1.37:g.36921912C>T	ENSP00000362208:p.Arg171His		36694499	B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	CCDS411.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528685	0.96446	.	.	ENSG00000116898	ENST00000373116	.	.	.	6.06	6.06	0.98353	S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.87661	0.6233	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89987	0.4105	9	0.87932	D	0	-26.9014	19.1847	0.93639	0.0:1.0:0.0:0.0	.	171	P82914	RT15_HUMAN	H	171	.	ENSP00000362208:R171H	R	-	2	0	MRPS15	36694499	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	7.113000	0.77095	2.882000	0.98803	0.655000	0.94253	CGT		0.453	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		T	36921912	C	T	36921912	3	4	450	1	0	0	0	0	1	0	0	0	9825	536	19	1	269	1	MRPS15	1	36921912	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08		36921912	212328709	1	24843											
GBP6	163351	broad.mit.edu	37	1	89835207	89835207	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:89835207C>A	ENST00000370456.4	+	3	386	c.293C>A	c.(292-294)aCc>aAc	p.T98N	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	98	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T98N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CTTCTGGACACCGAAGGTCTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											83	76	79					1																	89835207		2203	4300	6503	89607795	SO:0001583	missense	163351			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.293C>A	1.37:g.89835207C>A	ENSP00000359485:p.Thr98Asn		89607795	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	CCDS723.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951841	0.53293	.	.	ENSG00000183347	ENST00000544311;ENST00000370456	T	0.76709	-1.04	4.55	3.63	0.41609	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90445	0.7008	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91861	0.5499	10	0.87932	D	0	-20.3496	10.193	0.43039	0.0:0.9006:0.0:0.0994	.	98	Q6ZN66	GBP6_HUMAN	N	69;98	ENSP00000359485:T98N	ENSP00000359485:T98N	T	+	2	0	GBP6	89607795	0.996000	0.38824	0.780000	0.31762	0.388000	0.30384	3.865000	0.56033	0.910000	0.36722	0.585000	0.79938	ACC		0.507	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		A	89835207	C	A	89835207	3	1	450	1	0	0	0	0	1	0	0	0	6278	507	18	3	299	3	GBP6	1	89835207	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	52913295	89835207	159415414	2	24844											
ABCA4	24	broad.mit.edu	37	1	94495051	94495051	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:94495051T>A	ENST00000370225.3	-	30	4575	c.4489A>T	c.(4489-4491)Acc>Tcc	p.T1497S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1497					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.T1497S(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGCAGCATGGTGAGCTTCTCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	1											62	41	48					1																	94495051		2203	4300	6503	94267639	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4489A>T	1.37:g.94495051T>A	ENSP00000359245:p.Thr1497Ser		94267639	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342868	0.61073	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.94537	-3.45	5.24	5.24	0.73138	.	0.159989	0.53938	D	0.000045	D	0.89298	0.6675	L	0.50333	1.59	0.80722	D	1	B	0.22746	0.074	B	0.23574	0.047	D	0.87145	0.2205	10	0.38643	T	0.18	.	15.3612	0.74475	0.0:0.0:0.0:1.0	.	1497	P78363	ABCA4_HUMAN	S	289;1497	ENSP00000359245:T1497S	ENSP00000359245:T1497S	T	-	1	0	ABCA4	94267639	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.990000	0.70595	2.212000	0.71576	0.529000	0.55759	ACC		0.632	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94495051	T	A	94495051	3	1	450	1	0	0	0	0	1	0	0	0	34	1696	59	5	2416	5	ABCA4	1	94495051	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08	4659844	94495051	154755570	3	24845											
LPPR4	9890	broad.mit.edu	37	1	99767345	99767345	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:99767345T>A	ENST00000370185.3	+	6	1355	c.858T>A	c.(856-858)ttT>ttA	p.F286L	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.F128L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		286					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.F286L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTTCACATTTATCATCTGTG	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											139	134	136					1																	99767345		2203	4300	6503	99539933	SO:0001583	missense	9890																														ENST00000370185.3:c.858T>A	1.37:g.99767345T>A	ENSP00000359204:p.Phe286Leu		99539933	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.265256	0.40095	.	.	ENSG00000117600	ENST00000370185;ENST00000263178;ENST00000370184	T;T	0.72942	-0.7;-0.7	4.92	1.36	0.22044	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.356680	0.32106	N	0.006572	T	0.46639	0.1403	N	0.13003	0.285	0.80722	D	1	P	0.51791	0.948	P	0.60068	0.868	T	0.41805	-0.9488	10	0.13470	T	0.59	-19.4954	8.4354	0.32784	0.0:0.3098:0.0:0.6902	.	286	Q7Z2D5	LPPR4_HUMAN	L	286;286;128	ENSP00000359204:F286L;ENSP00000359203:F128L	ENSP00000263178:F286L	F	+	3	2	RP4-788L13.1	99539933	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	0.174000	0.16743	-0.015000	0.14150	0.402000	0.26972	TTT		0.383	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			A	99767345	T	A	99767345	3	1	450	1	0	0	0	0	1	0	0	0	8927	1751	61	5	880	5	LPPR4	1	99767345	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08	5272294	99767345	149483276	4	24846											
AMIGO1	57463	broad.mit.edu	37	1	110050740	110050740	+	Silent	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:110050740C>T	ENST00000369864.4	-	2	1144	c.795G>A	c.(793-795)ctG>ctA	p.L265L	AMIGO1_ENST00000369862.1_Silent_p.L265L					adhesion molecule with Ig-like domain 1									p.L265L(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGGAAACTCAGGTTGAAGA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	1											101	103	103					1																	110050740		2203	4300	6503	109852263	SO:0001819	synonymous_variant	57463				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"Immunoglobulin superfamily / V-set domain containing"	20824	protein-coding gene	gene with protein product	"amphoterin-induced gene and open reading frame"	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.795G>A	1.37:g.110050740C>T			109852263		Silent	SNP	ENST00000369864.4	37	CCDS30795.1																																																																																				0.522	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		T	110050740	C	T	110050740	2	4	450	1	0	0	0	0	0	0	0	1	575	813	29	2		2	AMIGO1	1	110050740	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08	10283395	110050740	139199881	5	24847											
RBM15	64783	broad.mit.edu	37	1	110883320	110883320	+	Silent	SNP	A	A	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:110883320A>G	ENST00000369784.3	+	1	2193	c.1293A>G	c.(1291-1293)aaA>aaG	p.K431K	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Silent_p.K431K|RBM15_ENST00000487146.2_Silent_p.K431K	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	431	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K431R(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCGGGCCAAATTAGCAATGT	0.463			T	MKL1	acute megakaryocytic leukemia																																		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	1	Substitution - Missense(1)	ovary(1)	1											48	55	52					1																	110883320		2203	4300	6503	110684843	SO:0001819	synonymous_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1293A>G	1.37:g.110883320A>G			110684843	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	CCDS822.1																																																																																				0.463	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		G	110883320	A	G	110883320	2	3	450	1	0	0	0	0	0	0	0	1	13119	98	4	4		4	RBM15	1	110883320	Silent	SNP	A	TCGA-61-2012-01A-01W-0722-08	832580	110883320	138367301	6	24848											
CTTNBP2NL	55917	broad.mit.edu	37	1	112997102	112997102	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:112997102G>T	ENST00000271277.6	+	5	587	c.362G>T	c.(361-363)cGg>cTg	p.R121L		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	121					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.R121L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAGGCAGCGGCATGCACAG	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											119	113	115					1																	112997102		2203	4300	6503	112798625	SO:0001583	missense	55917			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.362G>T	1.37:g.112997102G>T	ENSP00000271277:p.Arg121Leu		112798625	B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062708	0.76187	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.43294	0.95;0.95	6.04	6.04	0.98038	Cortactin-binding protein-2, N-terminal (1);	0.039177	0.85682	D	0.000000	T	0.44808	0.1311	N	0.25647	0.755	0.54753	D	0.999986	D	0.67145	0.996	D	0.68192	0.956	T	0.19582	-1.0301	10	0.36615	T	0.2	-30.0464	20.1899	0.98228	0.0:0.0:1.0:0.0	.	121	Q9P2B4	CT2NL_HUMAN	L	121	ENSP00000271277:R121L;ENSP00000390976:R121L	ENSP00000271277:R121L	R	+	2	0	CTTNBP2NL	112798625	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.608000	0.67654	2.873000	0.98535	0.563000	0.77884	CGG		0.383	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		T	112997102	G	T	112997102	3	4	450	1	0	0	0	0	1	0	0	0	4046	1116	39	3	372	3	CTTNBP2NL	1	112997102	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	2113782	112997102	136253519	7	24849											
TCHH	7062	broad.mit.edu	37	1	152084052	152084052	+	Silent	SNP	C	C	T	rs374409875		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:152084052C>T	ENST00000368804.1	-	2	1640	c.1641G>A	c.(1639-1641)gaG>gaA	p.E547E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	547	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E547E(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGCAGCTGCTCGCGCCTCT	0.662																																																1	Substitution - coding silent(1)	ovary(1)	1								0,4070		0,0,2035	77	84	81		1641	0.7	0	1		81	2,8382		0,2,4190	no	coding-synonymous	TCHH	NM_007113.2		0,2,6225	TT,TC,CC		0.0239,0.0,0.0161		547/1944	152084052	2,12452	2035	4192	6227	150350676	SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1641G>A	1.37:g.152084052C>T			150350676	Q5VUI3	Silent	SNP	ENST00000368804.1	37	CCDS41396.1																																																																																				0.662	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152084052	C	T	152084052	2	4	450	1	0	0	0	0	0	0	0	1	15700	796	28	2		2	TCHH	1	152084052	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08	39086950	152084052	97166569	8	24850											
SELE	6401	broad.mit.edu	37	1	169701925	169701925	+	Silent	SNP	T	T	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:169701925T>A	ENST00000333360.7	-	3	391	c.252A>T	c.(250-252)gtA>gtT	p.V84V	SELE_ENST00000367775.1_Silent_p.V84V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Silent_p.V84V|SELE_ENST00000367782.4_Silent_p.V84V|SELE_ENST00000367781.4_Silent_p.V84V|SELE_ENST00000367776.1_Silent_p.V84V|SELE_ENST00000367777.1_Silent_p.V84V|SELE_ENST00000367780.4_Silent_p.V84V|SELE_ENST00000367774.1_Silent_p.V84V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	84	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.V84V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TCTGGGTTCCTACCCAGACCC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	1											83	79	80					1																	169701925		2203	4300	6503	167968549	SO:0001819	synonymous_variant	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.252A>T	1.37:g.169701925T>A			167968549	A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	CCDS1283.1																																																																																				0.428	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		A	169701925	T	A	169701925	2	1	450	1	0	0	0	0	0	0	0	1	14016	1509	53	5		5	SELE	1	169701925	Silent	SNP	T	TCGA-61-2012-01A-01W-0722-08	17617873	169701925	79548696	9	24851											
ZBTB41	360023	broad.mit.edu	37	1	197169101	197169101	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:197169101A>C	ENST00000367405.4	-	1	571	c.503T>G	c.(502-504)aTa>aGa	p.I168R	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I168R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CACTGCATCTATAATGTCCAA	0.318																																																1	Substitution - Missense(1)	ovary(1)	1											40	39	39					1																	197169101		2203	4299	6502	195435724	SO:0001583	missense	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.503T>G	1.37:g.197169101A>C	ENSP00000356375:p.Ile168Arg		195435724	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908920	0.52439	.	.	ENSG00000177888	ENST00000367405	T	0.66099	-0.19	4.96	3.83	0.44106	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.48286	D	0.000199	T	0.41858	0.1177	N	0.04090	-0.28	0.58432	D	0.999999	P	0.44946	0.846	B	0.43445	0.42	T	0.49011	-0.8983	10	0.87932	D	0	.	10.3445	0.43899	0.9221:0.0:0.0779:0.0	.	168	Q5SVQ8	ZBT41_HUMAN	R	168	ENSP00000356375:I168R	ENSP00000356375:I168R	I	-	2	0	ZBTB41	195435724	1.000000	0.71417	0.989000	0.46669	0.816000	0.46133	8.957000	0.93082	0.732000	0.32470	0.254000	0.18369	ATA		0.318	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		C	197169101	A	C	197169101	3	2	450	1	0	0	0	0	1	0	0	0	17543	449	16	5	2266	5	ZBTB41	1	197169101	Missense_Mutation	SNP	A	TCGA-61-2012-01A-01W-0722-08	27467176	197169101	52081520	10	24852											
ATP2B4	493	broad.mit.edu	37	1	203708819	203708819	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:203708819A>T	ENST00000357681.5	+	21	4578	c.3455A>T	c.(3454-3456)gAg>gTg	p.E1152V	ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000341360.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1188					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.E1152V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGAGGAAGAGGAGGAAAAT	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											123	110	114					1																	203708819		2203	4300	6503	201975442	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3455A>T	1.37:g.203708819A>T	ENSP00000350310:p.Glu1152Val		201975442	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096159	0.56075	.	.	ENSG00000058668	ENST00000357681	T	0.79653	-1.29	5.46	5.46	0.80206	.	1.166840	0.06393	N	0.717426	T	0.78604	0.4309	L	0.38175	1.15	0.80722	D	1	B	0.27853	0.191	B	0.29942	0.109	T	0.63202	-0.6690	10	0.72032	D	0.01	-11.0127	15.1947	0.73078	1.0:0.0:0.0:0.0	.	1152	P23634-6	.	V	1152	ENSP00000350310:E1152V	ENSP00000350310:E1152V	E	+	2	0	ATP2B4	201975442	1.000000	0.71417	0.966000	0.40874	0.400000	0.30750	2.550000	0.45811	2.077000	0.62373	0.533000	0.62120	GAG		0.498	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		T	203708819	A	T	203708819	3	4	450	1	0	0	0	0	1	0	0	0	1142	304	11	5	3715	5	ATP2B4	1	203708819	Missense_Mutation	SNP	A	TCGA-61-2012-01A-01W-0722-08	6539718	203708819	45541802	11	24853											
PIGR	5284	broad.mit.edu	37	1	207106486	207106486	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr1:207106486C>A	ENST00000356495.4	-	7	1914	c.1731G>T	c.(1729-1731)aaG>aaT	p.K577N	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	577					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.K577N(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGCGTCTGCCTTCGCTAGGC	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											61	61	61					1																	207106486		2203	4300	6503	205173109	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1731G>T	1.37:g.207106486C>A	ENSP00000348888:p.Lys577Asn		205173109	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	1.444	-0.566738	0.03910	.	.	ENSG00000162896	ENST00000356495	T	0.16196	2.36	3.88	-7.77	0.01227	.	1.704540	0.02662	N	0.107613	T	0.07593	0.0191	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	10	0.14656	T	0.56	-12.108	1.072	0.01623	0.1599:0.3221:0.237:0.281	.	577	P01833	PIGR_HUMAN	N	577	ENSP00000348888:K577N	ENSP00000348888:K577N	K	-	3	2	PIGR	205173109	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.936000	0.00685	-2.694000	0.00402	-1.191000	0.01696	AAG		0.547	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		A	207106486	C	A	207106486	3	1	450	1	0	0	0	0	1	0	0	0	11897	680	24	3	583	3	PIGR	1	207106486	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	3397667	207106486	42144135	12	24854											
CLEC4F	165530	broad.mit.edu	37	2	71043345	71043345	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr2:71043345T>C	ENST00000272367.2	-	4	1244	c.1168A>G	c.(1168-1170)Ata>Gta	p.I390V	CLEC4F_ENST00000426626.1_Missense_Mutation_p.I390V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	390					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I390V(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						AGGGTCTGTATCTCTCTGCTG	0.428																																					Colon(107;10 2157 6841 26035)											1	Substitution - Missense(1)	ovary(1)	2											131	129	130					2																	71043345		2203	4300	6503	70896853	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1168A>G	2.37:g.71043345T>C	ENSP00000272367:p.Ile390Val		70896853	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	T	3.745	-0.052700	0.07362	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.80994	-1.44;-1.44	3.88	2.68	0.31781	.	0.462024	0.18337	N	0.144311	T	0.74756	0.3758	M	0.71036	2.16	0.09310	N	1	B;B	0.34200	0.441;0.441	B;B	0.31946	0.138;0.138	T	0.65261	-0.6211	10	0.42905	T	0.14	.	6.3064	0.21141	0.2319:0.0:0.0:0.7681	.	390;390	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	V	390	ENSP00000272367:I390V;ENSP00000390581:I390V	ENSP00000272367:I390V	I	-	1	0	CLEC4F	70896853	0.172000	0.23043	0.131000	0.22000	0.041000	0.13682	-0.018000	0.12568	0.797000	0.33971	0.383000	0.25322	ATA		0.428	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		C	71043345	T	C	71043345	3	2	450	1	0	0	0	0	1	0	0	0	3516	1435	50	4	617	4	CLEC4F	2	71043345	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08		71043345	172156028	13	24855											
POLR1A	25885	broad.mit.edu	37	2	86258453	86258453	+	Splice_Site	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr2:86258453C>T	ENST00000263857.6	-	30	4956	c.4578G>A	c.(4576-4578)caG>caA	p.Q1526Q	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1526					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.Q1526Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCACACTGACCTGGCACCACA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	2											66	71	70					2																	86258453		2103	4216	6319	86111964	SO:0001630	splice_region_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4578+1G>A	2.37:g.86258453C>T			86111964	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	CCDS42706.1																																																																																				0.657	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	Silent	T	86258453	C	T	86258453	5	4	450	1	0	0	0	0	0	0	1	0	12209	695	24	2	604	2	POLR1A	2	86258453	Splice_Site	SNP	C	TCGA-61-2012-01A-01W-0722-08	15215108	86258453	156940920	14	24856											
IL1F8	27177	broad.mit.edu	37	2	113783780	113783780	+	Silent	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr2:113783780C>T	ENST00000259213.4	-	5	398	c.291G>A	c.(289-291)aaG>aaA	p.K97K		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	97					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)	p.K97K(1)		kidney(1)|ovary(1)|pancreas(1)	3						agcaagtgtccttccctatgt	0.463																																																1	Substitution - coding silent(1)	ovary(1)	2											163	139	147					2																	113783780		2203	4300	6503	113500251	SO:0001819	synonymous_variant	27177			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.291G>A	2.37:g.113783780C>T			113500251	Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Silent	SNP	ENST00000259213.4	37	CCDS2109.1																																																																																				0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		T	113783780	C	T	113783780	2	4	450	1	0	0	0	0	0	0	0	1	7656	680	24	2		2	IL1F8	2	113783780	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08	27525327	113783780	129415593	15	24857											
SCN1A	6323	broad.mit.edu	37	2	166848032	166848032	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr2:166848032G>C	ENST00000303395.4	-	26	5752	c.5753C>G	c.(5752-5754)tCt>tGt	p.S1918C	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1907C|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.S1918C|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1890C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1918	IQ.				adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.S1907C(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGACAGCAGATACTTCCTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											103	98	100					2																	166848032		2203	4300	6503	166556278	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5753C>G	2.37:g.166848032G>C	ENSP00000303540:p.Ser1918Cys		166556278	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593600	0.46214	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96554	-4.05;-4.05;-4.01;-4.0	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000008	D	0.97148	0.9068	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96142	0.9101	10	0.32370	T	0.25	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	1907	P35498-2	.	C	1918;1918;1907;1890	ENSP00000407030:S1918C;ENSP00000303540:S1918C;ENSP00000364554:S1907C;ENSP00000386312:S1890C	ENSP00000303540:S1918C	S	-	2	0	SCN1A	166556278	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.810000	0.99221	2.719000	0.93026	0.555000	0.69702	TCT		0.408	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		C	166848032	G	C	166848032	3	2	450	1	0	0	0	0	1	0	0	0	13917	942	33	3	280	3	SCN1A	2	166848032	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	53064252	166848032	76351341	16	24858											
TTN	7273	broad.mit.edu	37	2	179453904	179453904	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr2:179453904C>T	ENST00000591111.1	-	254	57849	c.57625G>A	c.(57625-57627)Gct>Act	p.A19209T	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11785T|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11910T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11977T|TTN_ENST00000589042.1_Missense_Mutation_p.A20850T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A18282T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19209	Ig-like 108.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A18280T(1)|p.A11785T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACTGCCAGCCGTGTTAGTT	0.418																																																2	Substitution - Missense(2)	ovary(2)	2											104	103	103					2																	179453904		1899	4122	6021	179162150	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57625G>A	2.37:g.179453904C>T	ENSP00000465570:p.Ala19209Thr		179162150	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.28	3.079314	0.55753	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.02	6.02	0.97574	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77791	0.4183	M	0.71581	2.175	0.80722	D	1	P;P;P;P	0.49783	0.928;0.928;0.928;0.928	P;P;P;P	0.51974	0.686;0.686;0.686;0.686	T	0.78899	-0.2022	9	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	11785;11910;11977;19209	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	18282;11785;11977;11910;11783	ENSP00000343764:A18282T;ENSP00000434586:A11785T;ENSP00000340554:A11977T;ENSP00000352154:A11910T	ENSP00000340554:A11977T	A	-	1	0	TTN	179162150	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.770000	0.85390	2.857000	0.98124	0.650000	0.86243	GCT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179453904	C	T	179453904	3	4	450	1	0	0	0	0	1	0	0	0	16735	739	26	2	45667	2	TTN	2	179453904	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	12605872	179453904	63745469	17	24859											
CCDC141	285025	broad.mit.edu	37	2	179702422	179702422	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr2:179702422T>G	ENST00000420890.2	-	23	3641	c.3524A>C	c.(3523-3525)gAg>gCg	p.E1175A	CCDC141_ENST00000295723.5_Missense_Mutation_p.E600A|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1175								p.E600A(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGTAGTCGCTCTTCCCCTGT	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											86	86	86					2																	179702422		2203	4300	6503	179410667	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3524A>C	2.37:g.179702422T>G	ENSP00000395995:p.Glu1175Ala		179410667	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	T	10.92	1.488302	0.26686	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.44083	0.93;1.55;1.55	5.57	2.09	0.27110	.	0.878367	0.09682	N	0.769606	T	0.23094	0.0558	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20505	-1.0273	10	0.35671	T	0.21	-0.1564	4.0998	0.10009	0.0:0.2058:0.3565:0.4376	.	600;600	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	A	1175;619;600	ENSP00000395995:E1175A;ENSP00000344627:E619A;ENSP00000295723:E600A	ENSP00000295723:E600A	E	-	2	0	CCDC141	179410667	0.002000	0.14202	0.008000	0.14137	0.024000	0.10985	0.921000	0.28718	0.454000	0.26884	0.454000	0.30748	GAG		0.488	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		G	179702422	T	G	179702422	3	3	450	1	0	0	0	0	1	0	0	0	2775	1551	54	5	832	5	CCDC141	2	179702422	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08	248518	179702422	63496951	18	24860											
SLC4A3	6508	broad.mit.edu	37	2	220497051	220497051	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr2:220497051G>A	ENST00000358055.3	+	8	1540	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R370H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R343H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R370H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R343H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	343				R -> P (in Ref. 2; AAB05850). {ECO:0000305}.	bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.R370H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGACGGCCCGCTGGATCAAG	0.667																																																1	Substitution - Missense(1)	ovary(1)	2											42	46	44					2																	220497051		2203	4300	6503	220205295	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1028G>A	2.37:g.220497051G>A	ENSP00000350756:p.Arg343His		220205295	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316308	0.95655	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	3.85	3.85	0.44370	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	M	0.80332	2.49	0.80722	D	1	D;D	0.55605	0.972;0.963	P;P	0.54664	0.754;0.758	D	0.91481	0.5204	10	0.52906	T	0.07	.	16.3106	0.82869	0.0:0.0:1.0:0.0	.	343;370	P48751;P48751-3	B3A3_HUMAN;.	H	343;343;370;370;343;145	ENSP00000350756:R343H;ENSP00000362865:R343H;ENSP00000273063:R370H;ENSP00000362867:R370H;ENSP00000314006:R343H;ENSP00000414722:R145H	ENSP00000273063:R370H	R	+	2	0	SLC4A3	220205295	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.595000	0.98260	2.126000	0.65437	0.561000	0.74099	CGC		0.667	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		A	220497051	G	A	220497051	3	1	450	1	0	0	0	0	1	0	0	0	14658	1087	38	1	1135	1	SLC4A3	2	220497051	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	40794629	220497051	22702322	19	24861											
ACSL3	2181	broad.mit.edu	37	2	223799373	223799373	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr2:223799373T>C	ENST00000357430.3	+	16	2504	c.1973T>C	c.(1972-1974)gTa>gCa	p.V658A	AC013476.1_ENST00000582868.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.V658A	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	658					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.V658A(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GAAAATGAGGTACTTAAAGTG	0.403			T	ETV1	prostate																																		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	1	Substitution - Missense(1)	ovary(1)	2											142	128	133					2																	223799373		2203	4300	6503	223507617	SO:0001583	missense	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1973T>C	2.37:g.223799373T>C	ENSP00000350012:p.Val658Ala		223507617	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	30|30	5.057065|5.057065	0.93846|0.93846	.|.	.|.	ENSG00000123983|ENSG00000123983	ENST00000357430;ENST00000392066|ENST00000407441	T;T|.	0.26810|.	1.71;1.71|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.058642|.	0.64402|.	D|.	0.000002|.	T|T	0.78387|0.78387	0.4275|0.4275	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	D|.	0.57571|.	0.98|.	P|.	0.59595|.	0.86|.	T|T	0.80623|0.80623	-0.1300|-0.1300	10|5	0.87932|.	D|.	0|.	-19.9059|-19.9059	15.7762|15.7762	0.78220|0.78220	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	658|.	O95573|.	ACSL3_HUMAN|.	A|H	658|159	ENSP00000350012:V658A;ENSP00000375918:V658A|.	ENSP00000350012:V658A|.	V|Y	+|+	2|1	0|0	ACSL3|ACSL3	223507617|223507617	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.986000|0.986000	0.74619|0.74619	8.040000|8.040000	0.89188|0.89188	2.128000|2.128000	0.65567|0.65567	0.533000|0.533000	0.62120|0.62120	GTA|TAC		0.403	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		C	223799373	T	C	223799373	3	2	450	1	0	0	0	0	1	0	0	0	178	1638	57	4	2023	4	ACSL3	2	223799373	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08	3302322	223799373	19400000	20	24862											
SLC4A7	9497	broad.mit.edu	37	3	27439813	27439813	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr3:27439813C>G	ENST00000295736.5	-	17	2502	c.2432G>C	c.(2431-2433)gGg>gCg	p.G811A	SLC4A7_ENST00000388777.4_Missense_Mutation_p.G361A|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G692A|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G807A|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G807A|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G692A|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G803A|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G820A|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G687A|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G696A	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	811					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.G811A(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACAAGCTGACCCCAAGAATAC	0.368																																																1	Substitution - Missense(1)	ovary(1)	3											111	112	112					3																	27439813		2203	4300	6503	27414817	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2432G>C	3.37:g.27439813C>G	ENSP00000295736:p.Gly811Ala		27414817	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887502	0.91814	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.71	5.71	0.89125	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.91494	0.5214	10	0.72032	D	0.01	.	19.8545	0.96752	0.0:1.0:0.0:0.0	.	807;692;803;807;820;361;687;811;692	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	A	362;811;687;820;807;692;803;692;807;696;361;707	ENSP00000411031:G362A;ENSP00000295736:G811A;ENSP00000416368:G687A;ENSP00000390394:G820A;ENSP00000414797:G807A;ENSP00000394252:G692A;ENSP00000406605:G803A;ENSP00000407382:G692A;ENSP00000406804:G807A;ENSP00000395336:G696A;ENSP00000373429:G361A;ENSP00000388703:G707A	ENSP00000295736:G811A	G	-	2	0	SLC4A7	27414817	1.000000	0.71417	0.970000	0.41538	0.704000	0.40688	7.818000	0.86416	2.695000	0.91970	0.563000	0.77884	GGG		0.368	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		G	27439813	C	G	27439813	3	3	450	1	0	0	0	0	1	0	0	0	14661	623	22	3	1248	3	SLC4A7	3	27439813	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08		27439813	170582617	21	24863											
ZNF589	51385	broad.mit.edu	37	3	48310200	48310200	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr3:48310200G>T	ENST00000354698.3	+	4	1091	c.1019G>T	c.(1018-1020)gGc>gTc	p.G340V	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	340					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G340V(1)		large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGGGCGAGGCTTTCGTGAA	0.498																																					Colon(9;319 328 25374 27611 50948)											1	Substitution - Missense(1)	ovary(1)	3											88	95	93					3																	48310200		2153	4280	6433	48285204	SO:0001583	missense	51385			AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"Zinc fingers, C2H2-type", "-"	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.1019G>T	3.37:g.48310200G>T	ENSP00000346729:p.Gly340Val		48285204	Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.578968	0.28180	.	.	ENSG00000164048	ENST00000354698;ENST00000296437	T	0.17054	2.3	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10852	0.0265	L	0.28014	0.82	0.21967	N	0.999448	P;B	0.37141	0.584;0.068	B;B	0.37304	0.234;0.246	T	0.24905	-1.0147	9	0.72032	D	0.01	.	3.3292	0.07077	0.2736:0.0:0.7264:0.0	.	337;340	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	V	340;337	ENSP00000346729:G340V	ENSP00000296437:G337V	G	+	2	0	ZNF589	48285204	0.000000	0.05858	0.010000	0.14722	0.041000	0.13682	-0.003000	0.12901	0.903000	0.36546	0.313000	0.20887	GGC		0.498	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		T	48310200	G	T	48310200	3	4	450	1	0	0	0	0	1	0	0	0	18021	1203	42	3	1033	3	ZNF589	3	48310200	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	20870387	48310200	149712230	22	24864											
RYK	6259	broad.mit.edu	37	3	133907756	133907756	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr3:133907756G>A	ENST00000427044.2	-	10	1070	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	RYK_ENST00000296084.4_Missense_Mutation_p.R344C			P34925	RYK_HUMAN	receptor-like tyrosine kinase	340	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.R340C(1)		lung(1)|ovary(3)	4						TGGAAAATACGCCCAAAAGTA	0.264																																																1	Substitution - Missense(1)	ovary(1)	3											64	60	61					3																	133907756		1795	4061	5856	135390446	SO:0001583	missense	6259			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.460C>T	3.37:g.133907756G>A	ENSP00000399527:p.Arg154Cys		135390446	Q04696	Missense_Mutation	SNP	ENST00000427044.2	37		.	.	.	.	.	.	.	.	.	.	G	14.99	2.700749	0.48307	.	.	ENSG00000163785	ENST00000296084;ENST00000427044	D;D	0.83250	-1.7;-1.7	5.35	4.48	0.54585	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.052199	0.85682	D	0.000000	T	0.81254	0.4784	M	0.73598	2.24	0.80722	D	1	B;B	0.14012	0.009;0.008	B;B	0.12837	0.008;0.004	T	0.79169	-0.1914	10	0.87932	D	0	-5.0345	9.4484	0.38712	0.0725:0.0:0.7858:0.1417	.	340;343	P34925;P34925-2	RYK_HUMAN;.	C	344;154	ENSP00000296084:R344C;ENSP00000399527:R154C	ENSP00000296084:R344C	R	-	1	0	RYK	135390446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.073000	0.76784	1.380000	0.46344	0.650000	0.86243	CGT		0.264	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		A	133907756	G	A	133907756	3	1	450	1	0	0	0	0	1	0	0	0	13770	1087	38	1	824	1	RYK	3	133907756	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	85597556	133907756	64114674	23	24865											
ATP11B	23200	broad.mit.edu	37	3	182602567	182602567	+	Missense_Mutation	SNP	G	G	T	rs371088881		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr3:182602567G>T	ENST00000323116.5	+	22	2796	c.2536G>T	c.(2536-2538)Gct>Tct	p.A846S		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	846					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A846S(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGGAAGACAGGCTGCAAGAAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	3						G	SER/ALA	0,4406		0,0,2203	127	137	134		2536	5.7	1	3		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP11B	NM_014616.1	99	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	846/1178	182602567	1,13005	2203	4300	6503	184085261	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2536G>T	3.37:g.182602567G>T	ENSP00000321195:p.Ala846Ser		184085261	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.932805|3.932805	0.73442|0.73442	0.0|0.0	1.16E-4|1.16E-4	ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000482070|ENST00000498086	T;T|.	0.73047|.	0.23;-0.71|.	5.72|5.72	5.72|5.72	0.89469|0.89469	HAD-like domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91734|0.91734	0.7386|0.7386	H|H	0.99357|0.99357	4.53|4.53	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	D|D	0.94810|0.94810	0.7978|0.7978	10|5	0.87932|.	D|.	0|.	.|.	19.8628|19.8628	0.96789|0.96789	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	420;846|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	S|S	846;81|646	ENSP00000321195:A846S;ENSP00000417124:A81S|.	ENSP00000321195:A846S|.	A|R	+|+	1|3	0|2	ATP11B|ATP11B	184085261|184085261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.409000|9.409000	0.97331|0.97331	2.692000|2.692000	0.91855|0.91855	0.585000|0.585000	0.79938|0.79938	GCT|AGG		0.323	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		T	182602567	G	T	182602567	3	4	450	1	0	0	0	0	1	0	0	0	1120	1203	42	3	2622	3	ATP11B	3	182602567	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	48694811	182602567	15419863	24	24866											
HTR3C	170572	broad.mit.edu	37	3	183774067	183774067	+	Missense_Mutation	SNP	G	G	A	rs142791028	byFrequency	TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr3:183774067G>A	ENST00000318351.1	+	4	416	c.382G>A	c.(382-384)Gtg>Atg	p.V128M		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	128			V -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.V128M(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CATCTTCATCGTGGAATCGTG	0.502													G|||	3	0.000599042	0	0	5008	,	,		20225	0		0	False		,,,				2504	0.0031															2	Substitution - Missense(2)	large_intestine(1)|ovary(1)	3						A	MET/VAL	0,4406		0,0,2203	124	124	124		382	-9.5	0	3	dbSNP_134	124	1,8599		0,1,4299	no	missense	HTR3C	NM_130770.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	128/448	183774067	1,13005	2203	4300	6503	185256761	SO:0001583	missense	170572			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.382G>A	3.37:g.183774067G>A	ENSP00000322617:p.Val128Met		185256761	A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	1.525	-0.545931	0.04024	0.0	1.16E-4	ENSG00000178084	ENST00000318351	T	0.78816	-1.21	4.77	-9.53	0.00575	Neurotransmitter-gated ion-channel ligand-binding (3);	1.553000	0.03787	N	0.262280	T	0.68311	0.2987	L	0.47716	1.5	0.09310	N	1	B	0.22800	0.075	B	0.21546	0.035	T	0.60449	-0.7261	10	0.56958	D	0.05	0.0272	9.0502	0.36372	0.1972:0.0697:0.5854:0.1477	.	128	Q8WXA8	5HT3C_HUMAN	M	128	ENSP00000322617:V128M	ENSP00000322617:V128M	V	+	1	0	HTR3C	185256761	0.000000	0.05858	0.001000	0.08648	0.701000	0.40568	-3.898000	0.00339	-4.514000	0.00045	-3.767000	0.00021	GTG		0.502	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		A	183774067	G	A	183774067	3	1	450	1	0	0	0	0	1	0	0	0	7446	1145	40	1	396	1	HTR3C	3	183774067	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	1171500	183774067	14248363	25	24867											
BCL6	604	broad.mit.edu	37	3	187447315	187447315	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr3:187447315T>A	ENST00000406870.2	-	5	1244	c.878A>T	c.(877-879)tAc>tTc	p.Y293F	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.Y293F|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.Y293F	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	293					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y293F(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACAAGGGAAGTAGGGGGCATT	0.562			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	1	Substitution - Missense(1)	ovary(1)	3											80	89	86					3																	187447315		2203	4300	6503	188930009	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.878A>T	3.37:g.187447315T>A	ENSP00000384371:p.Tyr293Phe		188930009	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	T	6.530	0.466066	0.12402	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07567	3.18;3.18;3.19	5.34	5.34	0.76211	.	0.361425	0.32161	N	0.006492	T	0.05135	0.0137	N	0.16478	0.41	0.37763	D	0.926387	B;B	0.12013	0.001;0.005	B;B	0.11329	0.002;0.006	T	0.38308	-0.9667	10	0.11794	T	0.64	.	10.103	0.42517	0.1494:0.0:0.0:0.8506	.	293;293	B8PSA7;P41182	.;BCL6_HUMAN	F	293	ENSP00000384371:Y293F;ENSP00000232014:Y293F;ENSP00000413122:Y293F	ENSP00000232014:Y293F	Y	-	2	0	BCL6	188930009	1.000000	0.71417	0.993000	0.49108	0.534000	0.34807	1.089000	0.30890	2.148000	0.66965	0.379000	0.24179	TAC		0.562	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		A	187447315	T	A	187447315	3	1	450	1	0	0	0	0	1	0	0	0	1376	1638	57	5	1266	5	BCL6	3	187447315	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08	3673248	187447315	10575115	26	24868											
FRAS1	80144	broad.mit.edu	37	4	79387503	79387503	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr4:79387503G>A	ENST00000264895.6	+	50	7611	c.7171G>A	c.(7171-7173)Ggc>Agc	p.G2391S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2391					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.G2391S(3)|p.G2392S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCATGACGGCAGTAACTC	0.527																																																4	Substitution - Missense(4)	central_nervous_system(3)|ovary(1)	4											78	80	79					4																	79387503		2128	4237	6365	79606527	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7171G>A	4.37:g.79387503G>A	ENSP00000264895:p.Gly2391Ser		79606527	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.806409|2.806409	0.50421|0.50421	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.26223|.	1.75|.	5.53|5.53	4.69|4.69	0.59074|0.59074	.|.	0.297141|.	0.36665|.	N|.	0.002479|.	T|T	0.75693|0.75693	0.3884|0.3884	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	P|.	0.45902|.	0.868|.	B|.	0.35655|.	0.207|.	T|T	0.75399|0.75399	-0.3331|-0.3331	10|5	0.62326|.	D|.	0.03|.	.|.	17.8279|17.8279	0.88671|0.88671	0.0652:0.0:0.9348:0.0|0.0652:0.0:0.9348:0.0	.|.	2391|.	E9PHH6|.	.|.	S|Q	2391|619	ENSP00000264895:G2391S|.	ENSP00000264895:G2391S|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79606527|79606527	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.715000|0.715000	0.41141|0.41141	7.713000|7.713000	0.84693|0.84693	0.830000|0.830000	0.34757|0.34757	-1.128000|-1.128000	0.01989|0.01989	GGC|CGG		0.527	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	79387503	G	A	79387503	3	1	450	1	0	0	0	0	1	0	0	0	6042	1116	39	1	7444	1	FRAS1	4	79387503	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08		79387503	111766773	27	24869											
MTTP	4547	broad.mit.edu	37	4	100527921	100527921	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr4:100527921A>G	ENST00000265517.5	+	11	1564	c.1361A>G	c.(1360-1362)aAg>aGg	p.K454R	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.K454R|MTTP_ENST00000511045.1_Missense_Mutation_p.K481R			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	454	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.K454R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GTGGAAGCTAAGAAGTTAATC	0.433																																																1	Substitution - Missense(1)	ovary(1)	4											80	86	84					4																	100527921		2203	4300	6503	100746944	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1361A>G	4.37:g.100527921A>G	ENSP00000265517:p.Lys454Arg		100746944	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027950	0.54790	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.39997	1.05;1.05;1.05	5.51	5.51	0.81932	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.66506	2.035	0.50632	D	0.999888	P;P	0.40731	0.728;0.698	P;B	0.45099	0.469;0.191	T	0.39820	-0.9595	10	0.15952	T	0.53	-15.4203	15.6261	0.76859	1.0:0.0:0.0:0.0	.	481;454	E9PBP6;P55157	.;MTP_HUMAN	R	481;454;454;454	ENSP00000427679:K481R;ENSP00000400821:K454R;ENSP00000265517:K454R	ENSP00000265517:K454R	K	+	2	0	MTTP	100746944	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.394000	0.79862	2.083000	0.62718	0.533000	0.62120	AAG		0.433	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			G	100527921	A	G	100527921	3	3	450	1	0	0	0	0	1	0	0	0	9964	72	3	4	1403	4	MTTP	4	100527921	Missense_Mutation	SNP	A	TCGA-61-2012-01A-01W-0722-08	21140418	100527921	90626355	28	24870											
WDR17	116966	broad.mit.edu	37	4	177089798	177089798	+	Splice_Site	SNP	G	G	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr4:177089798G>T	ENST00000280190.4	+	25	3239		c.e25-1		WDR17_ENST00000508596.1_Intron|WDR17_ENST00000393643.2_Splice_Site|WDR17_ENST00000507824.2_Intron			Q8IZU2	WDR17_HUMAN	WD repeat domain 17									p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CCTCAATGAAGTGTCCCCTTT	0.323																																																1	Unknown(1)	ovary(1)	4											123	117	119					4																	177089798		2203	4300	6503	177326792	SO:0001630	splice_region_variant	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3084-1G>T	4.37:g.177089798G>T			177326792	E7EQX0|Q0QD35	Splice_Site	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	2.482	-0.319447	0.05386	.	.	ENSG00000150627	ENST00000393643;ENST00000280190;ENST00000507824	.	.	.	4.55	-2.29	0.06805	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5913	0.00728	0.3231:0.1253:0.2987:0.2529	.	.	.	.	.	-1	.	.	.	+	.	.	WDR17	177326792	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.362000	0.07602	-0.113000	0.11958	-0.282000	0.10007	.		0.323	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Intron	T	177089798	G	T	177089798	5	4	450	1	0	0	0	0	0	0	1	0	17277	1043	36	3	3177	3	WDR17	4	177089798	Splice_Site	SNP	G	TCGA-61-2012-01A-01W-0722-08	76561877	177089798	14064478	29	24871											
KIAA0947	23379	broad.mit.edu	37	5	5464525	5464525	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr5:5464525C>G	ENST00000296564.7	+	13	5300	c.5078C>G	c.(5077-5079)cCt>cGt	p.P1693R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1693	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.P1693R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CGTGCCTCTCCTCCAGATCCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	5											105	109	108					5																	5464525		2081	4212	6293	5517525	SO:0001583	missense	23379																														ENST00000296564.7:c.5078C>G	5.37:g.5464525C>G	ENSP00000296564:p.Pro1693Arg		5517525	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530979	0.45073	.	.	ENSG00000164151	ENST00000296564	T	0.12879	2.64	5.05	4.18	0.49190	.	.	.	.	.	T	0.30070	0.0753	L	0.54323	1.7	0.09310	N	0.999995	D	0.76494	0.999	D	0.69479	0.964	T	0.05099	-1.0906	9	0.52906	T	0.07	-8.9272	11.2962	0.49280	0.0:0.9102:0.0:0.0898	.	1693	Q9Y2F5	K0947_HUMAN	R	1693	ENSP00000296564:P1693R	ENSP00000296564:P1693R	P	+	2	0	KIAA0947	5517525	0.907000	0.30839	0.019000	0.16419	0.015000	0.08874	4.035000	0.57297	1.126000	0.42016	0.460000	0.39030	CCT		0.607	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			G	5464525	C	G	5464525	3	3	450	1	0	0	0	0	1	0	0	0	8202	681	24	3	5128	3	KIAA0947	5	5464525	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08		5464525	175450735	30	24872											
SLC45A2	51151	broad.mit.edu	37	5	33954474	33954474	+	Missense_Mutation	SNP	T	T	A	rs143509333		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr5:33954474T>A	ENST00000296589.4	-	4	1170	c.1024A>T	c.(1024-1026)Atg>Ttg	p.M342L	SLC45A2_ENST00000382102.3_Missense_Mutation_p.M342L|SLC45A2_ENST00000345083.5_Missense_Mutation_p.M234L|SLC45A2_ENST00000509381.1_Missense_Mutation_p.H233L|SLC45A2_ENST00000342059.3_Missense_Mutation_p.M283L	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	342					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.M342L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACCTGGCCCATGAAATCTGTG	0.478																																					Ovarian(31;380 859 8490 22203 49048)											1	Substitution - Missense(1)	ovary(1)	5											170	128	142					5																	33954474		2203	4300	6503	33990231	SO:0001583	missense	51151			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1024A>T	5.37:g.33954474T>A	ENSP00000296589:p.Met342Leu		33990231	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	CCDS3901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.685389|4.685389	0.88639|0.88639	.|.	.|.	ENSG00000164175|ENSG00000164175	ENST00000509381|ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600;ENST00000345083	.|T;T;T;T;T	.|0.81247	.|-1.47;-1.47;-1.47;-1.47;-1.47	6.08|6.08	4.92|4.92	0.64577|0.64577	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89670|0.89670	0.6782|0.6782	M|M	0.88450|0.88450	2.955|2.955	0.30399|0.30399	N|N	0.780223|0.780223	P|D;P	0.39282|0.63046	0.666|0.992;0.616	B|D;P	0.35859|0.63793	0.212|0.918;0.579	D|D	0.88588|0.88588	0.3141|0.3141	7|10	.|0.66056	.|D	.|0.02	-31.156|-31.156	12.0888|12.0888	0.53713|0.53713	0.0:0.0666:0.0:0.9334|0.0:0.0666:0.0:0.9334	.|.	233|342;342	D6RGY6|Q9UMX9-4;Q9UMX9	.|.;S45A2_HUMAN	L|L	233|342;283;342;167;234	.|ENSP00000296589:M342L;ENSP00000341014:M283L;ENSP00000371534:M342L;ENSP00000424010:M167L;ENSP00000340444:M234L	.|ENSP00000296589:M342L	H|M	-|-	2|1	0|0	SLC45A2|SLC45A2	33990231|33990231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.885000|5.885000	0.69736|0.69736	1.131000|1.131000	0.42111|0.42111	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.478	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		A	33954474	T	A	33954474	3	1	450	1	0	0	0	0	1	0	0	0	14644	1464	51	5	599	5	SLC45A2	5	33954474	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08	28489949	33954474	146960786	31	24873											
VCAN	1462	broad.mit.edu	37	5	82836875	82836875	+	Missense_Mutation	SNP	G	G	A	rs59948995		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr5:82836875G>A	ENST00000265077.3	+	8	8618	c.8053G>A	c.(8053-8055)Gtt>Att	p.V2685I	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.V1698I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2685	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.V2685I(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGAATTAGACGTTTTACTTCC	0.438													g|||	1	0.000199681	0	0	5008	,	,		21572	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5											126	118	121					5																	82836875		2203	4299	6502	82872631	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8053G>A	5.37:g.82836875G>A	ENSP00000265077:p.Val2685Ile		82872631	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	0.006	-2.053883	0.00390	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.28255	1.62;1.62	6.17	-4.28	0.03732	.	1.004860	0.08000	N	0.988684	T	0.07638	0.0192	N	0.01705	-0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31223	-0.9951	10	0.07644	T	0.81	.	2.2566	0.04057	0.3658:0.215:0.3138:0.1054	rs59948995	1698;2685	P13611-2;P13611	.;CSPG2_HUMAN	I	2685;1698	ENSP00000265077:V2685I;ENSP00000340062:V1698I	ENSP00000265077:V2685I	V	+	1	0	VCAN	82872631	0.013000	0.17824	0.001000	0.08648	0.012000	0.07955	0.101000	0.15251	-0.617000	0.05664	-1.254000	0.01491	GTT		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82836875	G	A	82836875	3	1	450	1	0	0	0	0	1	0	0	0	17138	1145	40	1	8079	1	VCAN	5	82836875	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	48882401	82836875	98078385	32	24874											
IMPG1	3617	broad.mit.edu	37	6	76728498	76728498	+	Silent	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr6:76728498C>T	ENST00000369950.3	-	7	933	c.744G>A	c.(742-744)aaG>aaA	p.K248K	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.K248K(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CGAGCTCTGCCTTGAACTTCT	0.493																																					Pancreas(37;839 1141 2599 26037)											1	Substitution - coding silent(1)	ovary(1)	6											124	114	118					6																	76728498		2203	4300	6503	76785218	SO:0001819	synonymous_variant	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.744G>A	6.37:g.76728498C>T			76785218		Silent	SNP	ENST00000369950.3	37	CCDS4985.1																																																																																				0.493	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		T	76728498	C	T	76728498	2	4	450	1	0	0	0	0	0	0	0	1	7728	680	24	2		2	IMPG1	6	76728498	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08		76728498	94386569	33	24875											
ZBTB24	9841	broad.mit.edu	37	6	109796641	109796641	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr6:109796641C>A	ENST00000230122.3	-	5	1416	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	417					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D417Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGAGACACATCCATGAATTTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											225	183	197					6																	109796641		2203	4300	6503	109903334	SO:0001583	missense	9841			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1249G>T	6.37:g.109796641C>A	ENSP00000230122:p.Asp417Tyr		109903334	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008483	0.93346	.	.	ENSG00000112365	ENST00000230122	T	0.06449	3.3	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	N	0.25031	0.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46091	-0.9216	10	0.24483	T	0.36	-33.7729	20.8794	0.99867	0.0:1.0:0.0:0.0	.	417	O43167	ZBT24_HUMAN	Y	417	ENSP00000230122:D417Y	ENSP00000230122:D417Y	D	-	1	0	ZBTB24	109903334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.336000	0.79245	2.941000	0.99782	0.655000	0.94253	GAT		0.458	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		A	109796641	C	A	109796641	3	1	450	1	0	0	0	0	1	0	0	0	17531	855	30	3	856	3	ZBTB24	6	109796641	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	33068143	109796641	61318426	34	24876											
LAMA2	3908	broad.mit.edu	37	6	129641721	129641721	+	Missense_Mutation	SNP	G	G	T	rs573563174		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr6:129641721G>T	ENST00000421865.2	+	28	4146	c.4097G>T	c.(4096-4098)cGt>cTt	p.R1366L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1366	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1366L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAACAAGGACGTGGAACAACA	0.433													G|||	1	0.000199681	0	0	5008	,	,		18728	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	6											184	170	175					6																	129641721		2203	4300	6503	129683414	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4097G>T	6.37:g.129641721G>T	ENSP00000400365:p.Arg1366Leu		129683414	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	7.576	0.667717	0.14710	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.35236	1.32	5.27	-7.19	0.01500	Laminin B type IV (2);	1.618200	0.02661	N	0.107553	T	0.08088	0.0202	L	0.29908	0.895	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.22386	0.039;0.039	T	0.17198	-1.0377	10	0.33141	T	0.24	.	4.9748	0.14135	0.429:0.3284:0.1699:0.0727	.	1366;1366	A6NF00;P24043	.;LAMA2_HUMAN	L	1366	ENSP00000400365:R1366L	ENSP00000346769:R1366L	R	+	2	0	LAMA2	129683414	0.000000	0.05858	0.002000	0.10522	0.123000	0.20343	-3.091000	0.00609	-1.132000	0.02907	-0.251000	0.11542	CGT		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129641721	G	T	129641721	3	4	450	1	0	0	0	0	1	0	0	0	8606	1145	40	3	4207	3	LAMA2	6	129641721	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	19845080	129641721	41473346	35	24877											
AKAP9	10142	broad.mit.edu	37	7	91712945	91712945	+	Silent	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr7:91712945G>A	ENST00000359028.2	+	34	8883	c.8658G>A	c.(8656-8658)gtG>gtA	p.V2886V	AKAP9_ENST00000358100.2_Silent_p.V2886V|AKAP9_ENST00000356239.3_Silent_p.V2874V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2886					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.V2886V(1)|p.V2874V(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAGGCAGTGATACAGTGTC	0.323			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - coding silent(2)	ovary(2)	7											48	50	49					7																	91712945		2203	4300	6503	91550881	SO:0001819	synonymous_variant	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8658G>A	7.37:g.91712945G>A			91550881	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																					0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		A	91712945	G	A	91712945	2	1	450	1	0	0	0	0	0	0	0	1	459	1277	45	2		2	AKAP9	7	91712945	Silent	SNP	G	TCGA-61-2012-01A-01W-0722-08		91712945	67425718	36	24878											
CBLL1	79872	broad.mit.edu	37	7	107398982	107398982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr7:107398982C>T	ENST00000440859.3	+	6	1302	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Nonsense_Mutation_p.Q278*	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	279	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q279*(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ATCGGTCAGTCAGGAAACCTT	0.473																																																1	Substitution - Nonsense(1)	ovary(1)	7											82	81	81					7																	107398982		2203	4300	6503	107186218	SO:0001587	stop_gained	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.835C>T	7.37:g.107398982C>T	ENSP00000401277:p.Gln279*		107186218	B7ZM03|Q8TAJ4|Q9H5S6	Nonsense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565595	0.65651	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796	.	.	.	5.01	5.01	0.66863	.	0.065942	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-1.371	18.6833	0.91554	0.0:1.0:0.0:0.0	.	.	.	.	X	279;158;278;229	.	ENSP00000222597:Q278X	Q	+	1	0	CBLL1	107186218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.798000	0.75155	2.498000	0.84270	0.491000	0.48974	CAG		0.473	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		T	107398982	C	T	107398982	4	4	450	1	0	0	0	0	0	1	0	0	2703	827	29	2	857	2	CBLL1	7	107398982	Nonsense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	15686037	107398982	51739681	37	24879											
PLXNA4	91584	broad.mit.edu	37	7	131825466	131825466	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr7:131825466G>A	ENST00000359827.3	-	30	6292	c.5330C>T	c.(5329-5331)aCc>aTc	p.T1777I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1777I			Q9HCM2	PLXA4_HUMAN	plexin A4	1777					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.T1777I(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTCCATGAAGGTCTGAGCCAC	0.542																																																1	Substitution - Missense(1)	ovary(1)	7											122	127	125					7																	131825466		2203	4300	6503	131476006	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5330C>T	7.37:g.131825466G>A	ENSP00000352882:p.Thr1777Ile		131476006	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018292	0.93404	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.16457	2.34;2.34	5.11	5.11	0.69529	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050321	0.85682	D	0.000000	T	0.53769	0.1817	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66791	-0.5834	10	0.72032	D	0.01	.	18.5342	0.91004	0.0:0.0:1.0:0.0	.	1777	Q9HCM2	PLXA4_HUMAN	I	1777	ENSP00000323194:T1777I;ENSP00000352882:T1777I	ENSP00000323194:T1777I	T	-	2	0	PLXNA4	131476006	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.809000	0.99208	2.367000	0.80283	0.591000	0.81541	ACC		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131825466	G	A	131825466	3	1	450	1	0	0	0	0	1	0	0	0	12122	1261	44	2	366	2	PLXNA4	7	131825466	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	24426484	131825466	27313197	38	24880											
NUDCD1	84955	broad.mit.edu	37	8	110293378	110293378	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr8:110293378T>A	ENST00000239690.4	-	6	1221	c.847A>T	c.(847-849)Act>Tct	p.T283S	NUDCD1_ENST00000427660.2_Missense_Mutation_p.T254S	NM_032869.3	NP_116258.2			NudC domain containing 1									p.T283S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TCATCTTCAGTCTGTTGCCAG	0.353																																																1	Substitution - Missense(1)	ovary(1)	8											110	99	103					8																	110293378		2203	4300	6503	110362554	SO:0001583	missense	84955			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.847A>T	8.37:g.110293378T>A	ENSP00000239690:p.Thr283Ser		110362554		Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.367010	0.61513	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.78003	-1.14;-1.14	5.25	5.25	0.73442	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.048354	0.85682	N	0.000000	T	0.76744	0.4030	L	0.39566	1.225	0.46542	D	0.999092	B;B;B	0.31893	0.321;0.345;0.086	B;B;B	0.43360	0.369;0.417;0.067	T	0.74518	-0.3639	10	0.33940	T	0.23	-5.8411	14.3419	0.66633	0.0:0.0:0.0:1.0	.	196;283;254	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	S	283;254	ENSP00000239690:T283S;ENSP00000410707:T254S	ENSP00000239690:T283S	T	-	1	0	NUDCD1	110362554	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.800000	0.69108	1.980000	0.57719	0.528000	0.53228	ACT		0.353	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		A	110293378	T	A	110293378	3	1	450	1	0	0	0	0	1	0	0	0	10722	1667	58	5	924	5	NUDCD1	8	110293378	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08		110293378	36070644	39	24881											
CYP11B1	1584	broad.mit.edu	37	8	143960518	143960518	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr8:143960518G>T	ENST00000292427.4	-	2	357	c.325C>A	c.(325-327)Cac>Aac	p.H109N	CYP11B1_ENST00000377675.3_Missense_Mutation_p.H154N|CYP11B1_ENST00000517471.1_Missense_Mutation_p.H109N	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	109					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.H109N(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCATCCTGTGGGGATGCAGG	0.612									Familial Hyperaldosteronism type I																																							1	Substitution - Missense(1)	ovary(1)	8											204	147	166					8																	143960518		2203	4300	6503	143957520	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.325C>A	8.37:g.143960518G>T	ENSP00000292427:p.His109Asn		143957520	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	G	9.750	1.167300	0.21621	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.74106	-0.25;-0.25;-0.81	3.55	-4.21	0.03812	.	1.324690	0.05515	N	0.561121	T	0.54255	0.1847	N	0.17474	0.49	0.09310	N	1	B;B;B	0.20164	0.024;0.042;0.022	B;B;B	0.32022	0.039;0.139;0.068	T	0.40001	-0.9586	10	0.15952	T	0.53	.	3.0777	0.06252	0.3385:0.0:0.3575:0.304	.	154;109;109	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	N	109;109;154	ENSP00000292427:H109N;ENSP00000428043:H109N;ENSP00000366903:H154N	ENSP00000292427:H109N	H	-	1	0	CYP11B1	143957520	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.512000	0.06313	-1.295000	0.02357	0.484000	0.47621	CAC		0.612	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			T	143960518	G	T	143960518	3	4	450	1	0	0	0	0	1	0	0	0	4145	1348	47	3	1218	3	CYP11B1	8	143960518	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	33667140	143960518	2403504	40	24882											
IFNA13	3447	broad.mit.edu	37	9	21367973	21367973	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr9:21367973C>A	ENST00000449498.1	-	1	102	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	12					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.V12L(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CTGAGCACCACCAGGGCCATC	0.542																																																1	Substitution - Missense(1)	ovary(1)	9											85	93	90					9																	21367973		2202	4300	6502	21357973	SO:0001583	missense	3447				CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"Interferons"	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.37G>T	9.37:g.21367973C>A	ENSP00000394494:p.Val13Leu		21357973	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000449498.1	37	CCDS6505.2	.	.	.	.	.	.	.	.	.	.	C	8.025	0.760569	0.15914	.	.	ENSG00000233816	ENST00000449498	T	0.03242	4.0	2.56	0.344	0.16006	.	0.851240	0.09947	N	0.735178	T	0.04363	0.0120	L	0.53617	1.68	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.41574	-0.9501	10	0.38643	T	0.18	.	4.782	0.13206	0.0:0.3971:0.4564:0.1465	.	13	E9PB07	.	L	13	ENSP00000394494:V13L	ENSP00000394494:V13L	V	-	1	0	IFNA13	21357973	0.000000	0.05858	0.003000	0.11579	0.143000	0.21401	-0.404000	0.07205	-0.057000	0.13199	0.313000	0.20887	GTG		0.542	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900		A	21367973	C	A	21367973	3	1	450	1	0	0	0	0	1	0	0	0	7533	507	18	3	539	3	IFNA13	9	21367973	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08		21367973	119845458	41	24883											
RGP1	57704	broad.mit.edu	37	9	35751705	35751705	+	5'Flank	SNP	T	T	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr9:35751705T>C	ENST00000378103.3	-	0	0				GBA2_ENST00000378094.4_5'Flank|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.V239A|RGP1_ENST00000456972.2_Missense_Mutation_p.V279A|MSMP_ENST00000414286.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.V279A(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCGAGGACGTGGTGGGGACC	0.512																																																1	Substitution - Missense(1)	ovary(1)	9											104	104	104					9																	35751705		1972	4147	6119	35741705	SO:0001631	upstream_gene_variant	9827			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35751705T>C	Exception_encountered		35741705	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220951	0.79464	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.58	5.58	0.84498	.	0.112106	0.64402	D	0.000009	T	0.74997	0.3790	M	0.70595	2.14	0.54753	D	0.999986	P;P	0.43578	0.811;0.811	P;P	0.56042	0.79;0.79	T	0.76785	-0.2831	9	0.56958	D	0.05	-5.0839	14.9494	0.71060	0.0:0.0:0.0:1.0	.	239;239	Q92546;A8K0K1	RGP1_HUMAN;.	A	279;239	.	ENSP00000367318:V239A	V	+	2	0	RGP1	35741705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.859000	0.75467	2.132000	0.65825	0.454000	0.30748	GTG		0.512	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		C	35751705	T	C	35751705	1	2	450	0	1	0	0	0	0	0	0	0	13287	1696	59	4		4	RGP1	9	35751705	5'Flank	SNP	T	TCGA-61-2012-01A-01W-0722-08	14383732	35751705	105461726	42	24884											
FRMPD1	22844	broad.mit.edu	37	9	37733549	37733549	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr9:37733549A>G	ENST00000539465.1	+	11	1668	c.1075A>G	c.(1075-1077)Agc>Ggc	p.S359G	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S359G|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S181G|FRMPD1_ENST00000541302.1_Missense_Mutation_p.S228G|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	359	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S359G(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAAAGCCATTAGCTTCCACAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	9											85	84	84					9																	37733549		2203	4300	6503	37723549	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1075A>G	9.37:g.37733549A>G	ENSP00000444411:p.Ser359Gly		37723549	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647318	0.47258	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.64	5.64	0.86602	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.134911	0.64402	D	0.000002	T	0.79370	0.4434	L	0.52905	1.665	0.54753	D	0.999986	B;P	0.37612	0.077;0.602	B;P	0.45343	0.093;0.477	T	0.80795	-0.1223	10	0.62326	D	0.03	-11.9237	13.8044	0.63220	1.0:0.0:0.0:0.0	.	228;359	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	G	359;359;181;228	ENSP00000366995:S359G;ENSP00000444411:S359G;ENSP00000437762:S181G;ENSP00000444804:S228G	ENSP00000366995:S359G	S	+	1	0	FRMPD1	37723549	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	3.984000	0.56923	2.153000	0.67306	0.533000	0.62120	AGC		0.468	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		G	37733549	A	G	37733549	3	3	450	1	0	0	0	0	1	0	0	0	6057	420	15	4	1113	4	FRMPD1	9	37733549	Missense_Mutation	SNP	A	TCGA-61-2012-01A-01W-0722-08	1981844	37733549	103479882	43	24885											
CEP78	84131	broad.mit.edu	37	9	80881399	80881399	+	Silent	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr9:80881399C>T	ENST00000424347.2	+	15	2128	c.1839C>T	c.(1837-1839)ctC>ctT	p.L613L	CEP78_ENST00000376597.4_Silent_p.L630L|CEP78_ENST00000415759.2_Silent_p.L614L|CEP78_ENST00000277082.5_Silent_p.L613L|CEP78_ENST00000376598.2_Silent_p.L629L			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	613					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.L613L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTTTGCCTCTCGACTCCTTTC	0.428																																																1	Substitution - coding silent(1)	ovary(1)	9											59	58	59					9																	80881399		1865	4091	5956	80071219	SO:0001819	synonymous_variant	84131			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1839C>T	9.37:g.80881399C>T			80071219	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37																																																																																					0.428	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		T	80881399	C	T	80881399	2	4	450	1	0	0	0	0	0	0	0	1	3262	871	31	1		1	CEP78	9	80881399	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08	43147850	80881399	60332032	44	24886											
SPTAN1	6709	broad.mit.edu	37	9	131329147	131329147	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr9:131329147C>T	ENST00000372731.4	+	2	238	c.128C>T	c.(127-129)tCc>tTc	p.S43F	SPTAN1_ENST00000358161.5_Missense_Mutation_p.S43F|SPTAN1_ENST00000372739.3_Missense_Mutation_p.S43F	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	43					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.S43F(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTGGAAGATTCCTATCGATTC	0.473																																					NSCLC(120;833 1744 2558 35612 37579)											1	Substitution - Missense(1)	ovary(1)	9											94	93	94					9																	131329147		2203	4300	6503	130368968	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.128C>T	9.37:g.131329147C>T	ENSP00000361816:p.Ser43Phe		130368968	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856658	0.91433	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.36699	1.24;1.24;1.24	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.968;1.0	D;D;D;P;D	0.77557	0.99;0.99;0.976;0.804;0.98	T	0.69427	-0.5148	10	0.87932	D	0	.	18.775	0.91908	0.0:1.0:0.0:0.0	.	43;43;43;43;43	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	F	43	ENSP00000350882:S43F;ENSP00000361816:S43F;ENSP00000361824:S43F	ENSP00000350882:S43F	S	+	2	0	SPTAN1	130368968	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.400000	0.79949	2.742000	0.94016	0.655000	0.94253	TCC		0.473	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131329147	C	T	131329147	3	4	450	1	0	0	0	0	1	0	0	0	15119	855	30	2	130	2	SPTAN1	9	131329147	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	50447748	131329147	9884284	45	24887											
ADAMTS13	11093	broad.mit.edu	37	9	136303450	136303450	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr9:136303450C>T	ENST00000371929.3	+	14	2113	c.1669C>T	c.(1669-1671)Cca>Tca	p.P557S	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P526S|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P557S|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.P229S|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	557	Spacer.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P557S(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CACGTGCAGCCCACGGAAGGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	9											119	101	107					9																	136303450		2203	4300	6503	135293271	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1669C>T	9.37:g.136303450C>T	ENSP00000360997:p.Pro557Ser		135293271	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	1.598	-0.527326	0.04141	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.67171	-0.21;-0.25;-0.23;0.2	4.8	1.63	0.23807	.	.	.	.	.	T	0.40222	0.1108	N	0.20401	0.57	0.09310	N	1	B;B;B	0.21225	0.023;0.053;0.051	B;B;B	0.10450	0.003;0.005;0.005	T	0.22277	-1.0221	9	0.07990	T	0.79	.	1.7734	0.03016	0.2969:0.3438:0.2507:0.1086	.	557;526;557	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	S	557;557;526;229	ENSP00000360997:P557S;ENSP00000347927:P557S;ENSP00000348997:P526S;ENSP00000444504:P229S	ENSP00000347927:P557S	P	+	1	0	ADAMTS13	135293271	0.000000	0.05858	0.107000	0.21349	0.739000	0.42172	-0.710000	0.05024	0.961000	0.38030	0.561000	0.74099	CCA		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		T	136303450	C	T	136303450	3	4	450	1	0	0	0	0	1	0	0	0	258	623	22	2	1723	2	ADAMTS13	9	136303450	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	4974303	136303450	4909981	46	24888											
ARHGAP21	57584	broad.mit.edu	37	10	24911660	24911660	+	Splice_Site	SNP	A	A	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr10:24911660A>T	ENST00000396432.2	-	8	1012		c.e8+1		ARHGAP21_ENST00000320481.6_Splice_Site	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCATTTCTTACCAGTGCTGT	0.328																																																1	Unknown(1)	ovary(1)	10											92	90	91					10																	24911660		2203	4300	6503	24951666	SO:0001630	splice_region_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.525+1T>A	10.37:g.24911660A>T			24951666	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028021	0.75390	.	.	ENSG00000107863	ENST00000396432;ENST00000446003	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2962	0.82776	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP21	24951666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.443000	0.90320	2.304000	0.77564	0.528000	0.53228	.		0.328	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	Intron	T	24911660	A	T	24911660	5	4	450	1	0	0	0	0	0	0	1	0	871	405	14	5	5425	5	ARHGAP21	10	24911660	Splice_Site	SNP	A	TCGA-61-2012-01A-01W-0722-08		24911660	110623087	47	24889											
SHOC2	8036	broad.mit.edu	37	10	112724807	112724807	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr10:112724807C>T	ENST00000369452.4	+	2	1036	c.691C>T	c.(691-693)Cct>Tct	p.P231S	SHOC2_ENST00000265277.5_Missense_Mutation_p.P231S|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	231					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.P231S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TAAACAACTACCTGCTGAAAT	0.323																																																1	Substitution - Missense(1)	ovary(1)	10											55	56	56					10																	112724807		2202	4300	6502	112714797	SO:0001583	missense	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.691C>T	10.37:g.112724807C>T	ENSP00000358464:p.Pro231Ser		112714797	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692553	0.68271	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;D	0.85484	1.65;1.62;-1.99	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94268	0.8159	M	0.91406	3.205	0.80722	D	1	D;D	0.67145	0.996;0.99	D;P	0.78314	0.991;0.788	D	0.95063	0.8197	10	0.87932	D	0	.	19.4783	0.94998	0.0:1.0:0.0:0.0	.	231;231	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	S	231;231;67	ENSP00000265277:P231S;ENSP00000358464:P231S;ENSP00000408275:P67S	ENSP00000265277:P231S	P	+	1	0	SHOC2	112714797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	2.606000	0.88127	0.561000	0.74099	CCT		0.323	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		T	112724807	C	T	112724807	3	4	450	1	0	0	0	0	1	0	0	0	14290	507	18	2	693	2	SHOC2	10	112724807	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	87813147	112724807	22809940	48	24890											
OR4C13	283092	broad.mit.edu	37	11	49974323	49974323	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr11:49974323G>T	ENST00000555099.1	+	1	381	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A117S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TACTGTAATGGCCTATGACCA	0.443																																																1	Substitution - Missense(1)	ovary(1)	11											114	106	109					11																	49974323		2201	4296	6497	49930899	SO:0001583	missense	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.349G>T	11.37:g.49974323G>T	ENSP00000452277:p.Ala117Ser		49930899	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	14.39	2.519665	0.44866	.	.	ENSG00000258817	ENST00000555099	T	0.39787	1.06	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000281	T	0.59595	0.2205	M	0.71296	2.17	0.40018	D	0.97537	D	0.76494	0.999	D	0.77557	0.99	T	0.62987	-0.6737	9	.	.	.	.	11.6719	0.51406	0.0:0.0:1.0:0.0	.	117	Q8NGP0	OR4CD_HUMAN	S	117	ENSP00000452277:A117S	.	A	+	1	0	OR4C13	49930899	1.000000	0.71417	0.999000	0.59377	0.056000	0.15407	7.068000	0.76748	1.646000	0.50622	0.195000	0.17529	GCC		0.443	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		T	49974323	G	T	49974323	3	4	450	1	0	0	0	0	1	0	0	0	11047	1203	42	3	351	3	OR4C13	11	49974323	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08		49974323	85032193	49	24891											
AHNAK	79026	broad.mit.edu	37	11	62284754	62284754	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr11:62284754A>G	ENST00000378024.4	-	5	17409	c.17135T>C	c.(17134-17136)aTc>aCc	p.I5712T	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5712					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.I5712T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCATTTTGATCTTGGACTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	11											79	82	81					11																	62284754		2201	4299	6500	62041330	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17135T>C	11.37:g.62284754A>G	ENSP00000367263:p.Ile5712Thr		62041330	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147615	0.57151	.	.	ENSG00000124942	ENST00000378024	T	0.01092	5.35	4.77	4.77	0.60923	.	.	.	.	.	T	0.05960	0.0155	M	0.71036	2.16	0.42751	D	0.99377	D	0.61697	0.99	D	0.71184	0.972	T	0.12734	-1.0536	9	0.66056	D	0.02	.	14.0042	0.64453	1.0:0.0:0.0:0.0	.	5712	Q09666	AHNK_HUMAN	T	5712	ENSP00000367263:I5712T	ENSP00000367263:I5712T	I	-	2	0	AHNAK	62041330	0.998000	0.40836	0.998000	0.56505	0.896000	0.52359	5.945000	0.70226	1.793000	0.52555	0.448000	0.29417	ATC		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62284754	A	G	62284754	3	3	450	1	0	0	0	0	1	0	0	0	414	333	12	4	657	4	AHNAK	11	62284754	Missense_Mutation	SNP	A	TCGA-61-2012-01A-01W-0722-08	12310431	62284754	72721762	50	24892											
GDF3	9573	broad.mit.edu	37	12	7848321	7848321	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr12:7848321G>T	ENST00000329913.3	-	1	51	c.4C>A	c.(4-6)Ctt>Att	p.L2I		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	2					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.L2I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGAAACGAAGCATGGCCTCT	0.473																																																1	Substitution - Missense(1)	ovary(1)	12											32	31	31					12																	7848321		2203	4300	6503	7739588	SO:0001583	missense	9573			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.4C>A	12.37:g.7848321G>T	ENSP00000331745:p.Leu2Ile		7739588	Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881083	0.33255	.	.	ENSG00000184344	ENST00000329913	D	0.81821	-1.54	4.28	-0.082	0.13700	.	2.774190	0.03707	U	0.249593	T	0.58595	0.2133	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43523	-0.9386	10	0.16896	T	0.51	.	1.5612	0.02595	0.1993:0.1474:0.4588:0.1945	.	2	Q9NR23	GDF3_HUMAN	I	2	ENSP00000331745:L2I	ENSP00000331745:L2I	L	-	1	0	GDF3	7739588	0.049000	0.20398	0.500000	0.27589	0.005000	0.04900	0.076000	0.14712	-0.010000	0.14271	-1.129000	0.01985	CTT		0.473	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			T	7848321	G	T	7848321	3	4	450	1	0	0	0	0	1	0	0	0	6315	971	34	3	1098	3	GDF3	12	7848321	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08		7848321	126003574	51	24893											
PKP2	5318	broad.mit.edu	37	12	33031177	33031177	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr12:33031177G>A	ENST00000070846.6	-	3	661	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	PKP2_ENST00000340811.4_Missense_Mutation_p.H213Y	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	213					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.H213Y(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGTCAAAGTGGCGCTGCCTG	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											137	116	123					12																	33031177		2203	4300	6503	32922444	SO:0001583	missense	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.637C>T	12.37:g.33031177G>A	ENSP00000070846:p.His213Tyr		32922444	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	1.264	-0.615049	0.03663	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.80033	-1.33;-1.27	5.07	2.21	0.28008	.	1.263180	0.05337	N	0.529390	T	0.59169	0.2174	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.54098	-0.8344	10	0.02654	T	1	-1.4444	3.6028	0.08031	0.3034:0.0:0.5177:0.1789	.	213;213;213	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	Y	213	ENSP00000342800:H213Y;ENSP00000070846:H213Y	ENSP00000070846:H213Y	H	-	1	0	PKP2	32922444	0.977000	0.34250	0.938000	0.37757	0.980000	0.70556	0.774000	0.26675	1.138000	0.42230	0.650000	0.86243	CAC		0.617	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		A	33031177	G	A	33031177	3	1	450	1	0	0	0	0	1	0	0	0	11985	1348	47	2	2056	2	PKP2	12	33031177	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	25182856	33031177	100820718	52	24894											
LRRK2	120892	broad.mit.edu	37	12	40696669	40696669	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr12:40696669T>C	ENST00000298910.7	+	26	3633	c.3575T>C	c.(3574-3576)aTt>aCt	p.I1192T	LRRK2_ENST00000343742.2_Missense_Mutation_p.I1192T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1192					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.I1192T(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCAGAAGCAATTTTAAATCTT	0.299																																																2	Substitution - Missense(2)	ovary(2)	12											73	84	80					12																	40696669		2201	4282	6483	38982936	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3575T>C	12.37:g.40696669T>C	ENSP00000298910:p.Ile1192Thr		38982936	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754795	0.69648	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.56941	0.43;1.7	4.91	4.91	0.64330	.	0.055473	0.64402	D	0.000001	T	0.80325	0.4602	H	0.96943	3.91	0.51012	D	0.999904	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.69307	0.919;0.963;0.919	D	0.85603	0.1253	10	0.41790	T	0.15	.	14.8678	0.70430	0.0:0.0:0.0:1.0	.	1192;1192;1192	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	T	1192	ENSP00000341930:I1192T;ENSP00000298910:I1192T	ENSP00000298910:I1192T	I	+	2	0	LRRK2	38982936	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.524000	0.73791	1.981000	0.57761	0.533000	0.62120	ATT		0.299	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		C	40696669	T	C	40696669	3	2	450	1	0	0	0	0	1	0	0	0	9033	1493	52	4	3677	4	LRRK2	12	40696669	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08	7665492	40696669	93155226	53	24895											
SHMT2	6472	broad.mit.edu	37	12	57627397	57627397	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr12:57627397C>T	ENST00000328923.3	+	9	1527	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	SHMT2_ENST00000449049.3_Missense_Mutation_p.R338W|SHMT2_ENST00000393827.4_Missense_Mutation_p.R263W|SHMT2_ENST00000553474.1_Missense_Mutation_p.R338W|SHMT2_ENST00000557487.1_Missense_Mutation_p.R349W|SHMT2_ENST00000414700.3_Missense_Mutation_p.R338W	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	359					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)	p.R359W(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	GAAGAATGCTCGGGCCATGGC	0.607																																					Esophageal Squamous(150;1369 2416 49071 49364)											1	Substitution - Missense(1)	ovary(1)	12											81	70	74					12																	57627397		2203	4300	6503	55913664	SO:0001583	missense	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.1075C>T	12.37:g.57627397C>T	ENSP00000333667:p.Arg359Trp		55913664	B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.20|19.20	3.780862|3.780862	0.70222|0.70222	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827|ENST00000557529	T;T;T;T;T;T;T|.	0.49720|.	0.77;0.77;0.77;0.77;0.77;0.77;0.77|.	4.32|4.32	3.43|3.43	0.39272|0.39272	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.341285|.	0.29515|.	N|.	0.011926|.	T|T	0.61615|0.61615	0.2361|0.2361	M|M	0.77103|0.77103	2.36|2.36	0.32725|0.32725	N|N	0.5098|0.5098	D;D;D;D;D|.	0.76494|.	0.998;0.97;0.999;0.998;0.97|.	P;P;P;P;P|.	0.61940|.	0.896;0.567;0.896;0.896;0.498|.	T|T	0.69472|0.69472	-0.5136|-0.5136	10|5	0.87932|.	D|.	0|.	-15.0817|-15.0817	8.5351|8.5351	0.33357|0.33357	0.0:0.8933:0.0:0.1067|0.0:0.8933:0.0:0.1067	.|.	368;349;263;290;359|.	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897|.	.;.;.;.;GLYM_HUMAN|.	W|L	359;349;198;338;338;338;263|158	ENSP00000333667:R359W;ENSP00000452315:R349W;ENSP00000450930:R198W;ENSP00000406881:R338W;ENSP00000452419:R338W;ENSP00000413770:R338W;ENSP00000377413:R263W|.	ENSP00000333667:R359W|.	R|S	+|+	1|2	2|0	SHMT2|SHMT2	55913664|55913664	0.922000|0.922000	0.31269|0.31269	0.987000|0.987000	0.45799|0.45799	0.996000|0.996000	0.88848|0.88848	2.703000|2.703000	0.47110|0.47110	1.182000|1.182000	0.42928|0.42928	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.607	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		T	57627397	C	T	57627397	3	4	450	1	0	0	0	0	1	0	0	0	14289	875	31	1	1109	1	SHMT2	12	57627397	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	16930728	57627397	76224498	54	24896											
TMTC2	160335	broad.mit.edu	37	12	83359496	83359496	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr12:83359496G>T	ENST00000321196.3	+	6	2549	c.1842G>T	c.(1840-1842)aaG>aaT	p.K614N	TMTC2_ENST00000549919.1_Missense_Mutation_p.K608N|TMTC2_ENST00000548305.1_Missense_Mutation_p.K614N	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	614					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.K614N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACCTAGGAAAGCTGTATCATG	0.478																																																1	Substitution - Missense(1)	ovary(1)	12											123	116	118					12																	83359496		2203	4299	6502	81883627	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1842G>T	12.37:g.83359496G>T	ENSP00000322300:p.Lys614Asn		81883627	B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149420	0.37923	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	D;D;D	0.93488	-3.23;-3.23;-3.23	5.07	-3.12	0.05282	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	N	0.01219	-0.95	0.53005	D	0.999964	D;D;D	0.69078	0.997;0.964;0.993	D;P;P	0.65874	0.939;0.775;0.865	T	0.79806	-0.1648	10	0.13853	T	0.58	-17.7458	11.2962	0.49280	0.5395:0.0:0.4605:0.0	.	614;369;614	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	N	614;614;608;369	ENSP00000322300:K614N;ENSP00000448292:K614N;ENSP00000447609:K608N	ENSP00000322300:K614N	K	+	3	2	TMTC2	81883627	0.895000	0.30542	0.921000	0.36526	0.646000	0.38490	0.145000	0.16157	-0.498000	0.06632	-0.482000	0.04802	AAG		0.478	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		T	83359496	G	T	83359496	3	4	450	1	0	0	0	0	1	0	0	0	16261	962	34	3	1864	3	TMTC2	12	83359496	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	25732099	83359496	50492399	55	24897											
SCYL2	55681	broad.mit.edu	37	12	100720404	100720404	+	Missense_Mutation	SNP	G	G	A	rs199548769		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr12:100720404G>A	ENST00000360820.2	+	12	1951	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	505					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.R509H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TAATAGGTTCGTGTAAATTCA	0.279																																																1	Substitution - Missense(1)	ovary(1)	12											95	91	93					12																	100720404		2203	4299	6502	99244535	SO:0001583	missense	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1514G>A	12.37:g.100720404G>A	ENSP00000354061:p.Arg505His		99244535	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323184	0.95708	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.55052	0.54;0.54	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80420	-0.1390	10	0.87932	D	0	.	19.497	0.95077	0.0:0.0:1.0:0.0	.	505	Q6P3W7	SCYL2_HUMAN	H	505	ENSP00000448366:R505H;ENSP00000354061:R505H	ENSP00000354061:R505H	R	+	2	0	SCYL2	99244535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.672000	0.98629	2.677000	0.91161	0.563000	0.77884	CGT		0.279	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		A	100720404	G	A	100720404	3	1	450	1	0	0	0	0	1	0	0	0	13951	1145	40	1	1556	1	SCYL2	12	100720404	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	17360908	100720404	33131491	56	24898											
SSH1	54434	broad.mit.edu	37	12	109205075	109205075	+	Missense_Mutation	SNP	C	C	T	rs563965184		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr12:109205075C>T	ENST00000326495.5	-	6	524	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	SSH1_ENST00000326470.5_Missense_Mutation_p.R155Q|SSH1_ENST00000551165.1_Missense_Mutation_p.R144Q|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	144					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R144Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTCCACAGTCGGAGAACCAT	0.498													C|||	1	0.000199681	0	0	5008	,	,		23865	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	12											173	142	152					12																	109205075		2203	4300	6503	107729204	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.431G>A	12.37:g.109205075C>T	ENSP00000315713:p.Arg144Gln		107729204	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450825	0.84209	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000546697	T;T;T;T	0.77358	0.51;0.51;0.51;-1.09	5.2	5.2	0.72013	.	0.117279	0.64402	D	0.000015	T	0.67031	0.2850	N	0.14661	0.345	0.80722	D	1	P;P;P	0.52577	0.883;0.928;0.954	B;P;B	0.46917	0.334;0.531;0.426	T	0.71708	-0.4511	10	0.62326	D	0.03	-12.0542	11.5568	0.50752	0.0:0.9183:0.0:0.0817	.	155;144;144	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	Q	144;144;155;128	ENSP00000315713:R144Q;ENSP00000448824:R144Q;ENSP00000326107:R155Q;ENSP00000446652:R128Q	ENSP00000326107:R155Q	R	-	2	0	SSH1	107729204	1.000000	0.71417	0.764000	0.31436	0.822000	0.46500	3.584000	0.53936	2.577000	0.86979	0.655000	0.94253	CGA		0.498	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		T	109205075	C	T	109205075	3	4	450	1	0	0	0	0	1	0	0	0	15186	884	31	1	2944	1	SSH1	12	109205075	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	8484671	109205075	24646820	57	24899											
TBX3	6926	broad.mit.edu	37	12	115120927	115120927	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr12:115120927C>A	ENST00000257566.3	-	1	468	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	TBX3_ENST00000349155.2_Missense_Mutation_p.D27Y	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	27					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D27Y(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGGCGAAGTCCGGCGCCCGG	0.701											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											31	33	32					12																	115120927		2138	4234	6372	113605310	SO:0001583	missense	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.79G>T	12.37:g.115120927C>A	ENSP00000257566:p.Asp27Tyr	1463	113605310	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737065	0.89482	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.91124	-2.76;-2.79	4.93	4.93	0.64822	.	0.047616	0.85682	D	0.000000	D	0.94716	0.8295	M	0.66297	2.02	0.80722	D	1	P;D;D	0.89917	0.894;1.0;0.999	B;D;D	0.75484	0.446;0.986;0.915	D	0.95327	0.8426	10	0.87932	D	0	.	18.1546	0.89687	0.0:1.0:0.0:0.0	.	27;27;27	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	Y	27	ENSP00000257567:D27Y;ENSP00000257566:D27Y	ENSP00000257566:D27Y	D	-	1	0	TBX3	113605310	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.263000	0.78421	2.301000	0.77427	0.655000	0.94253	GAC		0.701	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		A	115120927	C	A	115120927	3	1	450	1	0	0	0	0	1	0	0	0	15659	855	30	3	2184	3	TBX3	12	115120927	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	5915852	115120927	18730968	58	24900											
NBEA	26960	broad.mit.edu	37	13	35770278	35770278	+	Silent	SNP	T	T	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr13:35770278T>C	ENST00000400445.3	+	31	5739	c.5205T>C	c.(5203-5205)atT>atC	p.I1735I	NBEA_ENST00000379939.2_Silent_p.I1732I|NBEA_ENST00000540320.1_Silent_p.I1735I|NBEA_ENST00000310336.4_Silent_p.I1735I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1735					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.I1735I(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATCTAGCATTAGTCAAACCA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	13											86	83	84					13																	35770278		1889	4148	6037	34668278	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5205T>C	13.37:g.35770278T>C			34668278	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.418	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		C	35770278	T	C	35770278	2	2	450	1	0	0	0	0	0	0	0	1	10187	1742	61	4		4	NBEA	13	35770278	Silent	SNP	T	TCGA-61-2012-01A-01W-0722-08		35770278	79399600	59	24901											
LRFN5	145581	broad.mit.edu	37	14	42361139	42361139	+	Missense_Mutation	SNP	C	C	T	rs369488450		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr14:42361139C>T	ENST00000298119.4	+	4	3261	c.2072C>T	c.(2071-2073)aCg>aTg	p.T691M	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	691						integral component of membrane (GO:0016021)		p.T691M(1)|p.T691K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAGGGGCCCACGTCTAAAAGA	0.468										HNSCC(30;0.082)																																						2	Substitution - Missense(2)	ovary(1)|lung(1)	14											54	51	52					14																	42361139		2203	4300	6503	41430889	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2072C>T	14.37:g.42361139C>T	ENSP00000298119:p.Thr691Met		41430889	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	7.256	0.604267	0.14002	.	.	ENSG00000165379	ENST00000298119	T	0.46819	0.86	5.69	3.86	0.44501	.	0.586689	0.16082	N	0.230480	T	0.24699	0.0599	N	0.08118	0	0.25603	N	0.986578	B	0.10296	0.003	B	0.04013	0.001	T	0.10590	-1.0623	10	0.30854	T	0.27	.	6.8618	0.24072	0.0:0.7381:0.0:0.2619	.	691	Q96NI6	LRFN5_HUMAN	M	691	ENSP00000298119:T691M	ENSP00000298119:T691M	T	+	2	0	LRFN5	41430889	0.023000	0.18921	0.858000	0.33744	0.535000	0.34838	1.837000	0.39201	1.413000	0.46997	0.650000	0.86243	ACG		0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42361139	C	T	42361139	3	4	450	1	0	0	0	0	1	0	0	0	8941	536	19	1	2078	1	LRFN5	14	42361139	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08		42361139	64988401	60	24902											
RYR3	6263	broad.mit.edu	37	15	33988678	33988678	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr15:33988678G>T	ENST00000389232.4	+	39	6190	c.6120G>T	c.(6118-6120)atG>atT	p.M2040I	RYR3_ENST00000415757.3_Missense_Mutation_p.M2040I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2040	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.M2040I(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTTGCTCATGATCAATGGGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	15											100	105	103					15																	33988678		2076	4217	6293	31775970	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6120G>T	15.37:g.33988678G>T	ENSP00000373884:p.Met2040Ile		31775970	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583937	0.86748	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.63417	-0.04;0.22	4.84	4.84	0.62591	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	L	0.41824	1.3	0.80722	D	1	B;D	0.71674	0.119;0.998	B;D	0.85130	0.097;0.997	T	0.73672	-0.3909	10	0.51188	T	0.08	.	18.4937	0.90856	0.0:0.0:1.0:0.0	.	2040;2040	Q15413-2;Q15413	.;RYR3_HUMAN	I	2040	ENSP00000373884:M2040I;ENSP00000399610:M2040I	ENSP00000354735:M2040I	M	+	3	0	RYR3	31775970	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.601000	0.98297	2.670000	0.90874	0.650000	0.86243	ATG		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33988678	G	T	33988678	3	4	450	1	0	0	0	0	1	0	0	0	13773	1290	45	3	6274	3	RYR3	15	33988678	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08		33988678	68542714	61	24903											
EHD4	30844	broad.mit.edu	37	15	42192955	42192955	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr15:42192955G>A	ENST00000220325.4	-	6	1597	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	505	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.A505V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CTTGGCCAGCGCGAACTCCTC	0.642																																																1	Substitution - Missense(1)	ovary(1)	15											59	52	54					15																	42192955		2203	4299	6502	39980247	SO:0001583	missense	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1514C>T	15.37:g.42192955G>A	ENSP00000220325:p.Ala505Val		39980247	Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145275	0.94603	.	.	ENSG00000103966	ENST00000220325	T	0.28255	1.62	4.83	4.83	0.62350	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.76838	2.35	0.80722	D	1	D	0.60575	0.988	B	0.42282	0.382	T	0.48536	-0.9027	10	0.40728	T	0.16	-10.6941	18.2861	0.90114	0.0:0.0:1.0:0.0	.	505	Q9H223	EHD4_HUMAN	V	505	ENSP00000220325:A505V	ENSP00000220325:A505V	A	-	2	0	EHD4	39980247	1.000000	0.71417	0.880000	0.34516	0.833000	0.47200	9.792000	0.99085	2.394000	0.81467	0.543000	0.68304	GCG		0.642	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		A	42192955	G	A	42192955	3	1	450	1	0	0	0	0	1	0	0	0	4980	1087	38	1	115	1	EHD4	15	42192955	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	8204277	42192955	60338437	62	24904											
CORO2B	10391	broad.mit.edu	37	15	69011074	69011074	+	Missense_Mutation	SNP	C	C	G	rs143009182		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr15:69011074C>G	ENST00000566799.1	+	9	1034	c.1005C>G	c.(1003-1005)tgC>tgG	p.C335W	CORO2B_ENST00000540068.1_Missense_Mutation_p.C330W|CORO2B_ENST00000261861.5_Missense_Mutation_p.C330W|CORO2B_ENST00000543950.1_Missense_Mutation_p.C330W			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	335					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.C335W(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGTCAGCCTGCGAGGTGTTCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	15											88	65	73					15																	69011074		2200	4298	6498	66798128	SO:0001583	missense	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1005C>G	15.37:g.69011074C>G	ENSP00000454783:p.Cys335Trp		66798128	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210130	0.58343	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.35421	1.31;1.31	5.34	1.96	0.26148	Domain of unknown function DUF1900 (1);	0.043362	0.85682	D	0.000000	T	0.66548	0.2800	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69386	-0.5159	10	0.87932	D	0	-25.5521	7.5336	0.27697	0.0:0.5855:0.0:0.4145	.	335	Q9UQ03	COR2B_HUMAN	W	335;330;330	ENSP00000446250:C330W;ENSP00000443819:C330W	ENSP00000261861:C335W	C	+	3	2	CORO2B	66798128	0.036000	0.19791	1.000000	0.80357	0.995000	0.86356	-0.869000	0.04232	0.646000	0.30693	0.460000	0.39030	TGC		0.612	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		G	69011074	C	G	69011074	3	3	450	1	0	0	0	0	1	0	0	0	3757	776	27	3	1039	3	CORO2B	15	69011074	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	26818119	69011074	33520318	63	24905											
POLG	5428	broad.mit.edu	37	15	89865200	89865200	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr15:89865200C>T	ENST00000268124.5	-	15	2806	c.2473G>A	c.(2473-2475)Gtg>Atg	p.V825M	POLG_ENST00000442287.2_Missense_Mutation_p.V825M	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	825					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.V825M(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TACCTGATCACAGCACGGGGC	0.567								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)											1	Substitution - Missense(1)	ovary(1)	15											123	104	111					15																	89865200		2200	4299	6499	87666204	SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2473G>A	15.37:g.89865200C>T	ENSP00000268124:p.Val825Met		87666204	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448899	0.84101	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96992	-4.2;-4.2	5.37	5.37	0.77165	DNA-directed DNA polymerase, family A, palm domain (1);	0.116470	0.64402	D	0.000016	D	0.97639	0.9226	M	0.77103	2.36	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	D	0.97722	1.0197	10	0.62326	D	0.03	-26.845	12.4538	0.55691	0.0:0.9231:0.0:0.0769	.	825	P54098	DPOG1_HUMAN	M	825	ENSP00000268124:V825M;ENSP00000399851:V825M	ENSP00000268124:V825M	V	-	1	0	POLG	87666204	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.370000	0.66144	2.529000	0.85273	0.561000	0.74099	GTG		0.567	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		T	89865200	C	T	89865200	3	4	450	1	0	0	0	0	1	0	0	0	12200	478	17	2	1282	2	POLG	15	89865200	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	20854126	89865200	12666192	64	24906											
SYNM	23336	broad.mit.edu	37	15	99653864	99653864	+	Silent	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr15:99653864C>T	ENST00000560674.1	+	2	490	c.21C>T	c.(19-21)gaC>gaT	p.D7D	SYNM_ENST00000328642.7_Silent_p.D292D|SYNM_ENST00000336292.6_Silent_p.D292D|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	293	Head.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.D292D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGCTGCGGGACTATCAGGACC	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)											1	Substitution - coding silent(1)	ovary(1)	15											44	50	48					15																	99653864		2170	4270	6440	97471387	SO:0001819	synonymous_variant	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.21C>T	15.37:g.99653864C>T			97471387	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37																																																																																					0.552	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		T	99653864	C	T	99653864	2	4	450	1	0	0	0	0	0	0	0	1	15455	564	20	2		2	SYNM	15	99653864	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08	9788664	99653864	2877528	65	24907											
POLR3E	55718	broad.mit.edu	37	16	22327994	22327994	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr16:22327994G>C	ENST00000299853.5	+	10	882	c.715G>C	c.(715-717)Gtc>Ctc	p.V239L	POLR3E_ENST00000564209.1_Missense_Mutation_p.V239L|POLR3E_ENST00000418581.2_Missense_Mutation_p.V203L|POLR3E_ENST00000359210.4_Missense_Mutation_p.V239L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	239					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.V239L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CACGGAGCTCGTCAAGTCACC	0.642																																																1	Substitution - Missense(1)	ovary(1)	16											51	45	47					16																	22327994		2197	4300	6497	22235495	SO:0001583	missense	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.715G>C	16.37:g.22327994G>C	ENSP00000299853:p.Val239Leu		22235495	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708677	0.30322	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.42513	0.97;0.97;0.97	5.23	-1.06	0.10002	.	0.382752	0.28470	N	0.015227	T	0.32645	0.0836	L	0.44542	1.39	0.35085	D	0.763782	B;B;B;B;B;B	0.25169	0.119;0.062;0.036;0.023;0.036;0.079	B;B;B;B;B;B	0.30105	0.111;0.07;0.07;0.026;0.07;0.076	T	0.33137	-0.9880	10	0.56958	D	0.05	-11.1641	9.6214	0.39723	0.7842:0.0:0.2158:0.0	.	183;203;239;239;239;239	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	L	239;239;203	ENSP00000299853:V239L;ENSP00000352140:V239L;ENSP00000399254:V203L	ENSP00000299853:V239L	V	+	1	0	POLR3E	22235495	0.899000	0.30636	0.301000	0.25044	0.919000	0.55068	1.514000	0.35834	-0.055000	0.13244	0.563000	0.77884	GTC		0.642	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		C	22327994	G	C	22327994	3	2	450	1	0	0	0	0	1	0	0	0	12232	1145	40	3	749	3	POLR3E	16	22327994	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08		22327994	68026759	66	24908											
PER1	5187	broad.mit.edu	37	17	8049358	8049358	+	Silent	SNP	C	C	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr17:8049358C>A	ENST00000317276.4	-	17	2373	c.2136G>T	c.(2134-2136)gcG>gcT	p.A712A	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Silent_p.A692A|PER1_ENST00000354903.5_Silent_p.A696A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	712	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.A712A(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCACACTCTCCGCCTTATTGG	0.647			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	1	Substitution - coding silent(1)	ovary(1)	17											71	64	66					17																	8049358		2203	4300	6503	7990083	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2136G>T	17.37:g.8049358C>A			7990083	B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	CCDS11131.1																																																																																				0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8049358	C	A	8049358	2	1	450	1	0	0	0	0	0	0	0	1	11729	639	23	3		3	PER1	17	8049358	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08		8049358	73145852	67	24909											
MYO15A	51168	broad.mit.edu	37	17	18063311	18063311	+	Silent	SNP	A	A	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr17:18063311A>C	ENST00000205890.5	+	56	9704	c.9366A>C	c.(9364-9366)acA>acC	p.T3122T	MYO15A_ENST00000418233.3_Silent_p.T386T|MYO15A_ENST00000451725.2_Silent_p.T14T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3122	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T3122T(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCAGATCACAGACAATACCA	0.552																																																1	Substitution - coding silent(1)	ovary(1)	17											111	113	112					17																	18063311		2120	4235	6355	18004036	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9366A>C	17.37:g.18063311A>C			18004036	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.552	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		C	18063311	A	C	18063311	2	2	450	1	0	0	0	0	0	0	0	1	10063	175	7	5		5	MYO15A	17	18063311	Silent	SNP	A	TCGA-61-2012-01A-01W-0722-08	10013953	18063311	63131899	68	24910											
RHBDL3	162494	broad.mit.edu	37	17	30632388	30632388	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr17:30632388G>A	ENST00000269051.4	+	7	824	c.810G>A	c.(808-810)atG>atA	p.M270I	RHBDL3_ENST00000536287.1_Missense_Mutation_p.M172I|RHBDL3_ENST00000538145.1_Missense_Mutation_p.M262I	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	270						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.M270I(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGGCTGACATGACCGCTCCAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	17											171	137	148					17																	30632388		2203	4300	6503	27656501	SO:0001583	missense	162494			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.810G>A	17.37:g.30632388G>A	ENSP00000269051:p.Met270Ile		27656501	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032515	0.93575	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.11277	2.79;2.79;2.79	6.02	6.02	0.97574	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.21427	0.0516	N	0.19112	0.55	0.80722	D	1	D;D	0.57571	0.98;0.98	D;D	0.75020	0.985;0.985	T	0.01185	-1.1425	10	0.51188	T	0.08	.	18.3103	0.90197	0.0:0.0:1.0:0.0	.	262;270	Q495Y5;P58872	.;RHBL3_HUMAN	I	270;262;172	ENSP00000269051:M270I;ENSP00000442092:M262I;ENSP00000466508:M172I	ENSP00000269051:M270I	M	+	3	0	RHBDL3	27656501	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.600000	0.90860	2.857000	0.98124	0.650000	0.86243	ATG		0.582	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		A	30632388	G	A	30632388	3	1	450	1	0	0	0	0	1	0	0	0	13326	1290	45	2	836	2	RHBDL3	17	30632388	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	12569077	30632388	50562822	69	24911											
SLFN13	146857	broad.mit.edu	37	17	33770904	33770904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr17:33770904G>A	ENST00000285013.6	-	4	1377	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SLFN13_ENST00000533791.1_Nonsense_Mutation_p.Q368*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.Q50*|SLFN13_ENST00000542635.1_Nonsense_Mutation_p.Q368*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.Q50*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.Q368*	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	368						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.Q368*(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGACTCAACTGAGACTCAAAG	0.388																																																2	Substitution - Nonsense(2)	ovary(1)|lung(1)	17											85	81	82					17																	33770904		2203	4300	6503	30795017	SO:0001587	stop_gained	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1102C>T	17.37:g.33770904G>A	ENSP00000285013:p.Gln368*		30795017	E1P645|Q658M1|Q6ZS51|Q96A81	Nonsense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	38	6.735089	0.97801	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	.	.	.	3.4	3.4	0.38934	.	0.000000	0.43260	D	0.000589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	10.4397	0.44457	0.0:0.0:1.0:0.0	.	.	.	.	X	368;50;368;368;50;37	.	ENSP00000285013:Q368X	Q	-	1	0	SLFN13	30795017	0.040000	0.19996	0.987000	0.45799	0.106000	0.19336	2.747000	0.47475	1.878000	0.54408	0.514000	0.50259	CAG		0.388	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		A	33770904	G	A	33770904	4	1	450	1	0	0	0	0	0	1	0	0	14739	1299	45	2	1603	2	SLFN13	17	33770904	Nonsense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	3138516	33770904	47424306	70	24912											
CARD14	79092	broad.mit.edu	37	17	78172297	78172297	+	Silent	SNP	C	C	T	rs143677083		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr17:78172297C>T	ENST00000573882.1	+	15	2294	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.I586I|CARD14_ENST00000392434.2_Silent_p.I349I|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000570421.1_Silent_p.I586I			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	586	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)	p.I586I(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCAGCGTCATCGGCGGGAACC	0.682													C|||	1	0.000199681	8e-04	0	5008	,	,		15993	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	17						C	,	0,4406		0,0,2203	58	57	58		1758,1047	-4.9	0.1	17	dbSNP_134	58	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	CARD14	NM_024110.3,NM_052819.2	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	586/1005,349/435	78172297	1,13001	2203	4298	6501	75786892	SO:0001819	synonymous_variant	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1758C>T	17.37:g.78172297C>T			75786892	B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	CCDS11768.1																																																																																				0.682	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			T	78172297	C	T	78172297	2	4	450	1	0	0	0	0	0	0	0	1	2646	874	31	1		1	CARD14	17	78172297	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08	44401393	78172297	3022913	71	24913											
ONECUT2	9480	broad.mit.edu	37	18	55143752	55143752	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr18:55143752C>T	ENST00000491143.2	+	2	1344	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	438					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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 positive regulation of transcription (GO:0001077)	p.R438C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TGACCTCCAACGCCGAACACT	0.522																																																1	Substitution - Missense(1)	ovary(1)	18											59	65	63					18																	55143752		2048	4204	6252	53294750	SO:0001583	missense	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1312C>T	18.37:g.55143752C>T	ENSP00000419185:p.Arg438Cys		53294750		Missense_Mutation	SNP	ENST00000491143.2	37	CCDS42440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.367422|4.367422	0.82463|0.82463	.|.	.|.	ENSG00000119547|ENSG00000119547	ENST00000491143;ENST00000262095|ENST00000481727	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83880|0.83880	0.5350|0.5350	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.86205|0.86205	0.1621|0.1621	9|5	0.87932|.	D|.	0|.	-20.6886|-20.6886	14.919|14.919	0.70822|0.70822	0.1432:0.8568:0.0:0.0|0.1432:0.8568:0.0:0.0	.|.	438|.	O95948|.	ONEC2_HUMAN|.	C|M	419;438|66	.|.	ENSP00000262095:R438C|.	R|T	+|+	1|2	0|0	ONECUT2|ONECUT2	53294750|53294750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.522	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			T	55143752	C	T	55143752	3	4	450	1	0	0	0	0	1	0	0	0	10869	536	19	1	1318	1	ONECUT2	18	55143752	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08		55143752	22933496	72	24914											
SERPINB4	6318	broad.mit.edu	37	18	61310657	61310657	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr18:61310657T>G	ENST00000341074.5	-	2	270	c.155A>C	c.(154-156)cAa>cCa	p.Q52P	SERPINB4_ENST00000356424.6_Missense_Mutation_p.Q52P	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	52					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q52P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CTTGCTAATTTGTTGTGCAGT	0.438																																																1	Substitution - Missense(1)	ovary(1)	18											297	260	273					18																	61310657		2203	4300	6503	59461637	SO:0001583	missense	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.155A>C	18.37:g.61310657T>G	ENSP00000343445:p.Gln52Pro		59461637	A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.59|15.59	2.878976|2.878976	0.51801|0.51801	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000413673|ENST00000341074;ENST00000356424;ENST00000436264	.|D;D;D	.|0.85955	.|-2.05;-2.05;-2.05	3.83|3.83	3.83|3.83	0.44106|0.44106	.|Serpin domain (3);	.|0.379952	.|0.19193	.|N	.|0.120385	D|D	0.94417|0.94417	0.8204|0.8204	H|H	0.96633|0.96633	3.855|3.855	0.09310|0.09310	N|N	1|1	.|D;D	.|0.63880	.|0.993;0.99	.|D;D	.|0.72338	.|0.977;0.953	D|D	0.87699|0.87699	0.2559|0.2559	5|10	.|0.87932	.|D	.|0	.|.	12.27|12.27	0.54700|0.54700	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|52;52	.|P48594;Q9BYF7	.|SPB4_HUMAN;.	Q|P	54|52	.|ENSP00000343445:Q52P;ENSP00000348795:Q52P;ENSP00000399796:Q52P	.|ENSP00000343445:Q52P	K|Q	-|-	1|2	0|0	SERPINB4|SERPINB4	59461637|59461637	0.991000|0.991000	0.36638|0.36638	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	6.322000|6.322000	0.72886|0.72886	1.728000|1.728000	0.51552|0.51552	0.416000|0.416000	0.27883|0.27883	AAA|CAA		0.438	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		G	61310657	T	G	61310657	3	3	450	1	0	0	0	0	1	0	0	0	14106	1812	63	5	1045	5	SERPINB4	18	61310657	Missense_Mutation	SNP	T	TCGA-61-2012-01A-01W-0722-08	6166905	61310657	16766591	73	24915											
MUC16	94025	broad.mit.edu	37	19	9077660	9077660	+	Silent	SNP	C	C	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr19:9077660C>A	ENST00000397910.4	-	3	9989	c.9786G>T	c.(9784-9786)ctG>ctT	p.L3262L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3263	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L3262L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCTGTGGGCAGGTGAGAGA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19											118	122	121					19																	9077660		2138	4231	6369	8938660	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9786G>T	19.37:g.9077660C>A			8938660	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9077660	C	A	9077660	2	1	450	1	0	0	0	0	0	0	0	1	9973	697	25	3		3	MUC16	19	9077660	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08		9077660	50051323	74	24916											
ZNF208	7757	broad.mit.edu	37	19	22154440	22154440	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr19:22154440C>A	ENST00000397126.4	-	4	3544	c.3396G>T	c.(3394-3396)aaG>aaT	p.K1132N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K1004N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGAATTACCTTATGTTTAG	0.363																																																1	Substitution - Missense(1)	ovary(1)	19											50	53	52					19																	22154440		2100	4234	6334	21946280	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3396G>T	19.37:g.22154440C>A	ENSP00000380315:p.Lys1132Asn		21946280		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720251	0.30503	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07567	3.18	2.59	-0.0714	0.13743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06188	0.0160	.	.	.	0.09310	N	1	P	0.39216	0.664	B	0.36030	0.216	T	0.32348	-0.9910	8	0.62326	D	0.03	.	4.4047	0.11404	0.0:0.5664:0.1866:0.247	.	1004	O43345	ZN208_HUMAN	N	1132;1004	ENSP00000380315:K1132N	ENSP00000380315:K1132N	K	-	3	2	ZNF208	21946280	.	.	0.001000	0.08648	0.142000	0.21351	.	.	0.120000	0.18254	0.297000	0.19635	AAG		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		A	22154440	C	A	22154440	3	1	450	1	0	0	0	0	1	0	0	0	17766	680	24	3	450	3	ZNF208	19	22154440	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	13076780	22154440	36974543	75	24917											
PEPD	5184	broad.mit.edu	37	19	33980958	33980958	+	Silent	SNP	G	G	A	rs375023206		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr19:33980958G>A	ENST00000244137.7	-	6	480	c.447C>T	c.(445-447)ggC>ggT	p.G149G	PEPD_ENST00000397032.4_Silent_p.G149G|PEPD_ENST00000436370.3_Silent_p.G85G	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	149					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.G149G(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCGTGTTGACGCCACGCTGGG	0.652													G|||	1	0.000199681	0	0	5008	,	,		15201	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	19						G	,,	2,4210		0,2,2104	30	35	33		447,447,255	-5.7	0.8	19		33	1,8425		0,1,4212	no	coding-synonymous,coding-synonymous,coding-synonymous	PEPD	NM_000285.3,NM_001166056.1,NM_001166057.1	,,	0,3,6316	AA,AG,GG		0.0119,0.0475,0.0237	,,	149/494,149/453,85/430	33980958	3,12635	2106	4213	6319	38672798	SO:0001819	synonymous_variant	5184			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.447C>T	19.37:g.33980958G>A			38672798	A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	ENST00000244137.7	37	CCDS42544.1																																																																																				0.652	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		A	33980958	G	A	33980958	2	1	450	1	0	0	0	0	0	0	0	1	11728	1074	38	1		1	PEPD	19	33980958	Silent	SNP	G	TCGA-61-2012-01A-01W-0722-08	11826518	33980958	25148025	76	24918											
ZNF527	84503	broad.mit.edu	37	19	37879811	37879811	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr19:37879811C>T	ENST00000436120.2	+	5	967	c.860C>T	c.(859-861)tCa>tTa	p.S287L	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	287				S -> P (in Ref. 1; BAG62727). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S287L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCTGTTACTCATTCTTTACT	0.393																																																1	Substitution - Missense(1)	ovary(1)	19											120	112	114					19																	37879811		2040	4207	6247	42571651	SO:0001583	missense	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.860C>T	19.37:g.37879811C>T	ENSP00000390179:p.Ser287Leu		42571651	B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811746	0.50527	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	4.19	0.49359	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.331298	0.17133	N	0.185763	T	0.67183	0.2866	M	0.87038	2.855	0.35201	D	0.774264	B;B	0.30634	0.19;0.288	B;B	0.32533	0.07;0.147	T	0.77827	-0.2443	9	0.66056	D	0.02	.	11.3209	0.49421	0.1827:0.8173:0.0:0.0	.	287;255	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	L	287;255;235	.	ENSP00000325231:S255L	S	+	2	0	ZNF527	42571651	0.004000	0.15560	0.012000	0.15200	0.883000	0.51084	1.144000	0.31565	2.171000	0.68590	0.655000	0.94253	TCA		0.393	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		T	37879811	C	T	37879811	3	4	450	1	0	0	0	0	1	0	0	0	17968	838	29	2	874	2	ZNF527	19	37879811	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	3898853	37879811	21249172	77	24919											
SLC8A2	6543	broad.mit.edu	37	19	47935623	47935623	+	Silent	SNP	C	C	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr19:47935623C>T	ENST00000236877.6	-	9	2585	c.2190G>A	c.(2188-2190)acG>acA	p.T730T	SLC8A2_ENST00000542837.1_Silent_p.T486T|SLC8A2_ENST00000539381.1_Silent_p.T193T|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	730					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.T730T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCCAGAACACCGTCAGGAAGT	0.652																																																1	Substitution - coding silent(1)	ovary(1)	19											103	90	95					19																	47935623		2203	4300	6503	52627435	SO:0001819	synonymous_variant	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2190G>A	19.37:g.47935623C>T			52627435	B4DYQ9	Silent	SNP	ENST00000236877.6	37	CCDS33065.1																																																																																				0.652	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			T	47935623	C	T	47935623	2	4	450	1	0	0	0	0	0	0	0	1	14710	639	23	1		1	SLC8A2	19	47935623	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08	10055812	47935623	11193360	78	24920											
RBM39	9584	broad.mit.edu	37	20	34309749	34309749	+	Silent	SNP	A	A	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr20:34309749A>G	ENST00000253363.6	-	9	761	c.738T>C	c.(736-738)agT>agC	p.S246S	RBM39_ENST00000528062.3_Silent_p.S224S|RBM39_ENST00000407261.4_Silent_p.S89S|RBM39_ENST00000361162.6_Silent_p.S246S			Q14498	RBM39_HUMAN	RNA binding motif protein 39	246					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S246S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAGGTCCAGCACTTCCCTTTT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	20											184	164	171					20																	34309749		2203	4300	6503	33773163	SO:0001819	synonymous_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.738T>C	20.37:g.34309749A>G			33773163	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Silent	SNP	ENST00000253363.6	37	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350601	0.24512	.	.	ENSG00000131051	ENST00000448303	.	.	.	5.22	4.1	0.47936	.	.	.	.	.	T	0.62490	0.2432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59423	-0.7457	4	.	.	.	.	11.4642	0.50227	0.9282:0.0:0.0718:0.0	.	.	.	.	R	119	.	.	C	-	1	0	RBM39	33773163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.329000	0.33770	0.913000	0.36797	0.529000	0.55759	TGC		0.413	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		G	34309749	A	G	34309749	2	3	450	1	0	0	0	0	0	0	0	1	13136	156	6	4		4	RBM39	20	34309749	Silent	SNP	A	TCGA-61-2012-01A-01W-0722-08		34309749	28715771	79	24921											
TOX2	84969	broad.mit.edu	37	20	42574641	42574641	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr20:42574641C>A	ENST00000358131.5	+	1	297	c.89C>A	c.(88-90)gCa>gAa	p.A30E	TOX2_ENST00000423191.2_Intron|TOX2_ENST00000341197.4_Intron|TOX2_ENST00000372999.1_Intron	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	30					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A30E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTTCTACTTGCAAGACACTGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	20											45	45	45					20																	42574641		2013	4177	6190	42008055	SO:0001583	missense	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.89C>A	20.37:g.42574641C>A	ENSP00000350849:p.Ala30Glu		42008055	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072936	0.36566	.	.	ENSG00000124191	ENST00000358131	T	0.15603	2.41	4.44	2.42	0.29668	.	1.586020	0.04451	N	0.372622	T	0.09024	0.0223	N	0.08118	0	0.45883	D	0.998735	B	0.23058	0.079	B	0.18263	0.021	T	0.37033	-0.9723	10	0.02654	T	1	.	10.8982	0.47036	0.0:0.6305:0.3695:0.0	.	30	Q96NM4	TOX2_HUMAN	E	30	ENSP00000350849:A30E	ENSP00000350849:A30E	A	+	2	0	TOX2	42008055	0.026000	0.19158	0.883000	0.34634	0.815000	0.46073	0.021000	0.13489	0.565000	0.29255	0.313000	0.20887	GCA		0.602	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			A	42574641	C	A	42574641	3	1	450	1	0	0	0	0	1	0	0	0	16378	710	25	3	194	3	TOX2	20	42574641	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	8264892	42574641	20450879	80	24922											
ZFP64	55734	broad.mit.edu	37	20	50769706	50769706	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr20:50769706G>T	ENST00000216923.4	-	6	1374	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.P340H|ZFP64_ENST00000346617.4_Missense_Mutation_p.P288H|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P342H(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCACTTCTCAGGATGCTCCGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	20											121	111	114					20																	50769706		2203	4300	6503	50203113	SO:0001583	missense	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1025C>A	20.37:g.50769706G>T	ENSP00000216923:p.Pro342His		50203113	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392339	0.83011	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.20881	2.04;2.04;2.04	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000014	T	0.53706	0.1813	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.70487	0.969;0.903;0.91	T	0.58335	-0.7654	10	0.87932	D	0	-25.5076	20.0381	0.97570	0.0:0.0:1.0:0.0	.	288;340;342	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	H	342;288;340;184;495	ENSP00000216923:P342H;ENSP00000344615:P288H;ENSP00000360570:P340H	ENSP00000216923:P342H	P	-	2	0	ZFP64	50203113	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	9.623000	0.98386	2.740000	0.93945	0.609000	0.83330	CCT		0.592	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		T	50769706	G	T	50769706	3	4	450	1	0	0	0	0	1	0	0	0	17652	1000	35	3	2215	3	ZFP64	20	50769706	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	8195065	50769706	12255814	81	24923											
TSHZ2	128553	broad.mit.edu	37	20	51872658	51872658	+	Missense_Mutation	SNP	G	G	T	rs371016440		TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chr20:51872658G>T	ENST00000371497.5	+	2	3548	c.2661G>T	c.(2659-2661)aaG>aaT	p.K887N	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.K884N|TSHZ2_ENST00000603338.2_Missense_Mutation_p.K884N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	887					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K887N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAATCTCTAAGTTTACGGGAC	0.488																																																1	Substitution - Missense(1)	ovary(1)	20											86	84	84					20																	51872658		2203	4300	6503	51306065	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2661G>T	20.37:g.51872658G>T	ENSP00000360552:p.Lys887Asn		51306065	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372999	0.61624	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.19669	2.13;2.13	5.8	5.8	0.92144	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.04333	-1.0959	10	0.72032	D	0.01	-0.3631	10.1311	0.42680	0.1525:0.0:0.8475:0.0	.	887	Q9NRE2	TSH2_HUMAN	N	887;884;413	ENSP00000360552:K887N;ENSP00000333114:K884N	ENSP00000333114:K884N	K	+	3	2	TSHZ2	51306065	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.363000	0.59473	2.732000	0.93576	0.643000	0.83706	AAG		0.488	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51872658	G	T	51872658	3	4	450	1	0	0	0	0	1	0	0	0	16624	1020	36	3	2667	3	TSHZ2	20	51872658	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	1102952	51872658	11152862	82	24924											
UBA1	7317	broad.mit.edu	37	X	47065672	47065672	+	Silent	SNP	C	C	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chrX:47065672C>G	ENST00000335972.6	+	16	1950	c.1767C>G	c.(1765-1767)gtC>gtG	p.V589V	INE1_ENST00000456273.1_RNA|UBA1_ENST00000490869.1_3'UTR|UBA1_ENST00000377269.3_5'Flank|UBA1_ENST00000377351.4_Silent_p.V589V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	589	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.V589V(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGCTGTGTCTACTACCGGA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	X											56	35	42					X																	47065672		2203	4299	6502	46950616	SO:0001819	synonymous_variant	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1767C>G	X.37:g.47065672C>G			46950616	Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	CCDS14275.1																																																																																				0.562	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		G	47065672	C	G	47065672	2	3	450	1	0	0	0	0	0	0	0	1	16827	900	32	3		3	UBA1	23	47065672	Silent	SNP	C	TCGA-61-2012-01A-01W-0722-08		47065672	108204888	83	24925											
ARMCX3	51566	broad.mit.edu	37	X	100880256	100880256	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chrX:100880256C>G	ENST00000341189.4	+	5	1153	c.287C>G	c.(286-288)gCc>gGc	p.A96G	ARMCX3_ENST00000471229.2_Missense_Mutation_p.A96G|ARMCX3_ENST00000537169.1_Missense_Mutation_p.A96G|ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	96					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)		p.A96G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						agggcaagggccagggctaCC	0.547																																																1	Substitution - Missense(1)	ovary(1)	X											59	58	58					X																	100880256		2202	4300	6502	100766912	SO:0001583	missense	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.287C>G	X.37:g.100880256C>G	ENSP00000340672:p.Ala96Gly		100766912	Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	ENST00000341189.4	37	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	7.989	0.752978	0.15778	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.21543	2.0;2.0	3.98	3.98	0.46160	.	0.527792	0.18411	N	0.142045	T	0.09158	0.0226	N	0.08118	0	0.29676	N	0.842061	D	0.53885	0.963	B	0.37989	0.262	T	0.04650	-1.0936	9	.	.	.	-4.8817	10.5278	0.44958	0.0:1.0:0.0:0.0	.	96	Q9UH62	ARMX3_HUMAN	G	96	ENSP00000340672:A96G;ENSP00000439032:A96G	.	A	+	2	0	ARMCX3	100766912	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.018000	0.49625	2.244000	0.73946	0.594000	0.82650	GCC		0.547	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		G	100880256	C	G	100880256	3	3	450	1	0	0	0	0	1	0	0	0	961	739	26	3	289	3	ARMCX3	23	100880256	Missense_Mutation	SNP	C	TCGA-61-2012-01A-01W-0722-08	53814584	100880256	54390304	84	24926											
PHF6	84295	broad.mit.edu	37	X	133549045	133549045	+	Splice_Site	SNP	G	G	C			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chrX:133549045G>C	ENST00000332070.3	+	8	931		c.e8-1		PHF6_ENST00000416404.2_Splice_Site|PHF6_ENST00000370803.3_Splice_Site|PHF6_ENST00000394292.1_Splice_Site|PHF6_ENST00000370800.4_Splice_Site|PHF6_ENST00000370799.1_Splice_Site	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.?(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TTCTTCTCTAGTTGTTTTCTT	0.323			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	2	Unknown(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	X											34	34	34					X																	133549045		2202	4295	6497	133376711	SO:0001630	splice_region_variant	84295			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.730-1G>C	X.37:g.133549045G>C			133376711	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Splice_Site	SNP	ENST00000332070.3	37	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108429	0.77096	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4048	0.87470	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF6	133376711	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	9.420000	0.97426	2.410000	0.81850	0.594000	0.82650	.		0.323	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458	Intron	C	133549045	G	C	133549045	5	2	450	1	0	0	0	0	0	0	1	0	11838	1043	36	3	758	3	PHF6	23	133549045	Splice_Site	SNP	G	TCGA-61-2012-01A-01W-0722-08	32668789	133549045	21721515	85	24927											
TKTL1	8277	broad.mit.edu	37	X	153524340	153524340	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2012-01A-01W-0722-08	TCGA-61-2012-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	06baadc5-c314-4f1c-a297-1e83c83b2ac6	6c3d5efc-f530-4461-8a41-e9881f21d812	g.chrX:153524340G>A	ENST00000369915.3	+	1	317	c.128G>A	c.(127-129)aGc>aAc	p.S43N	TEX28_ENST00000369926.1_5'Flank|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	43					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.S43N(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTCCACGAGCTCCGGGTAA	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											127	107	114					X																	153524340		2203	4300	6503	153177534	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.128G>A	X.37:g.153524340G>A	ENSP00000358931:p.Ser43Asn		153177534	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914655	0.17907	.	.	ENSG00000007350	ENST00000369915	T	0.18810	2.19	4.46	0.875	0.19130	Transketolase, N-terminal (1);	0.232989	0.40908	D	0.000997	T	0.05181	0.0138	N	0.01228	-0.945	0.09310	N	0.999999	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.009	T	0.35425	-0.9789	10	0.18710	T	0.47	-8.7439	3.7084	0.08410	0.2782:0.476:0.2458:0.0	.	43;43	B7Z7I0;P51854	.;TKTL1_HUMAN	N	43	ENSP00000358931:S43N	ENSP00000358931:S43N	S	+	2	0	TKTL1	153177534	0.080000	0.21391	0.001000	0.08648	0.021000	0.10359	1.583000	0.36579	0.242000	0.21303	0.529000	0.55759	AGC		0.622	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		A	153524340	G	A	153524340	3	1	450	1	0	0	0	0	1	0	0	0	15935	971	34	2	130	2	TKTL1	23	153524340	Missense_Mutation	SNP	G	TCGA-61-2012-01A-01W-0722-08	19975295	153524340	1746220	86	24928											
CATSPER4	378807	broad.mit.edu	37	1	26527920	26527920	+	Silent	SNP	G	G	A			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr1:26527920G>A	ENST00000456354.2	+	9	1342	c.1275G>A	c.(1273-1275)acG>acA	p.T425T		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	425					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.T425T(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCGTCGACGAGCGGGTCGT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	1											102	92	95					1																	26527920		2203	4300	6503	26400507	SO:0001819	synonymous_variant	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1275G>A	1.37:g.26527920G>A			26400507	A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	CCDS30645.1																																																																																				0.577	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		A	26527920	G	A	26527920	2	1	451	1	0	0	0	0	0	0	0	1	2690	1045	37	1		1	CATSPER4	1	26527920	Silent	SNP	G	TCGA-61-2016-01A-01W-0722-08		26527920	222722701	1	24929											
CCDC17	149483	broad.mit.edu	37	1	46086453	46086453	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr1:46086453A>G	ENST00000528266.1	-	12	1799	c.1652T>C	c.(1651-1653)gTa>gCa	p.V551A	CCDC17_ENST00000421127.2_Missense_Mutation_p.V542A|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.V519A|CCDC17_ENST00000464739.1_5'Flank			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	551								p.V519A(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CAGTGTCTGTACAGCTGCATC	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											97	77	84					1																	46086453		2203	4300	6503	45859040	SO:0001583	missense	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1652T>C	1.37:g.46086453A>G	ENSP00000432172:p.Val551Ala		45859040	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972196	0.34754	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.19105	2.17;2.17;2.17	5.92	3.6	0.41247	.	0.378221	0.24735	N	0.036027	T	0.12347	0.0300	N	0.17872	0.535	0.09310	N	1	B;B;B	0.18310	0.023;0.027;0.027	B;B;B	0.17722	0.015;0.019;0.019	T	0.24977	-1.0145	10	0.22706	T	0.39	-18.3358	9.3001	0.37840	0.8465:0.0:0.1535:0.0	.	551;542;519	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	A	542;519;551	ENSP00000389415:V542A;ENSP00000341451:V519A;ENSP00000432172:V551A	ENSP00000341451:V519A	V	-	2	0	CCDC17	45859040	0.010000	0.17322	0.801000	0.32222	0.900000	0.52787	1.987000	0.40687	1.077000	0.40990	0.533000	0.62120	GTA		0.537	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		G	46086453	A	G	46086453	3	3	451	1	0	0	0	0	1	0	0	0	2793	391	14	4	224	4	CCDC17	1	46086453	Missense_Mutation	SNP	A	TCGA-61-2016-01A-01W-0722-08	19558533	46086453	203164168	2	24930											
DOCK7	85440	broad.mit.edu	37	1	63096926	63096926	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr1:63096926C>T	ENST00000340370.5	-	11	1284	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	DOCK7_ENST00000251157.5_Missense_Mutation_p.E423K|DOCK7_ENST00000404627.2_Missense_Mutation_p.E423K	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	423					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.E423K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTACTGATTTCTACTTCTGTA	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											93	89	90					1																	63096926		2202	4300	6502	62869514	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1267G>A	1.37:g.63096926C>T	ENSP00000340742:p.Glu423Lys		62869514	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569632	0.65765	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.37752	1.18;1.18;1.18	4.58	4.58	0.56647	.	0.095868	0.64402	D	0.000001	T	0.22085	0.0532	L	0.46157	1.445	0.80722	D	1	B;B;B;B;B	0.29301	0.139;0.099;0.241;0.241;0.0	B;B;B;B;B	0.26969	0.027;0.047;0.075;0.051;0.001	T	0.05699	-1.0869	10	0.44086	T	0.13	.	17.9163	0.88952	0.0:1.0:0.0:0.0	.	423;423;423;423;423	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	K	423	ENSP00000251157:E423K;ENSP00000340742:E423K;ENSP00000384446:E423K	ENSP00000251157:E423K	E	-	1	0	DOCK7	62869514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.317000	0.79018	2.519000	0.84933	0.655000	0.94253	GAA		0.363	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		T	63096926	C	T	63096926	3	4	451	1	0	0	0	0	1	0	0	0	4692	922	32	2	5218	2	DOCK7	1	63096926	Missense_Mutation	SNP	C	TCGA-61-2016-01A-01W-0722-08	17010473	63096926	186153695	3	24931											
SGIP1	84251	broad.mit.edu	37	1	67154922	67154922	+	Silent	SNP	A	A	T			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr1:67154922A>T	ENST00000371037.4	+	16	1484	c.1407A>T	c.(1405-1407)ccA>ccT	p.P469P	SGIP1_ENST00000237247.6_Silent_p.P500P|SGIP1_ENST00000371035.3_Silent_p.P259P|SGIP1_ENST00000371036.3_Silent_p.P269P|SGIP1_ENST00000371039.1_Silent_p.P270P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	469	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.P469P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CATCCCGGCCAAAGCTACCTC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	1											171	175	173					1																	67154922		2203	4300	6503	66927510	SO:0001819	synonymous_variant	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1407A>T	1.37:g.67154922A>T			66927510	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	CCDS30744.1																																																																																				0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		T	67154922	A	T	67154922	2	4	451	1	0	0	0	0	0	0	0	1	14209	117	5	5		5	SGIP1	1	67154922	Silent	SNP	A	TCGA-61-2016-01A-01W-0722-08	4057996	67154922	182095699	4	24932											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	1016	Substitution - Missense(1016)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	1											180	156	164					1																	115256529		2203	4300	6503	115058052	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg		115058052	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		C	115256529	T	C	115256529	3	2	451	1	0	0	0	0	1	0	0	0	10640	1812	63	4	399	4	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-61-2016-01A-01W-0722-08	48101607	115256529	133994092	5	24933											
XCL2	6846	broad.mit.edu	37	1	168511317	168511317	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr1:168511317C>G	ENST00000367819.2	-	2	122	c.90G>C	c.(88-90)agG>agC	p.R30S		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	30					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.R30S(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TCACACAGGTCCTCCTATGTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											121	94	103					1																	168511317		2203	4293	6496	166777941	SO:0001583	missense	6846			BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.90G>C	1.37:g.168511317C>G	ENSP00000356793:p.Arg30Ser		166777941		Missense_Mutation	SNP	ENST00000367819.2	37	CCDS1273.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.954065	0.00470	.	.	ENSG00000143185	ENST00000367819	T	0.04015	3.73	2.49	-2.62	0.06152	Chemokine interleukin-8-like domain (2);	0.673392	0.14425	N	0.320416	T	0.00241	0.0007	N	0.00436	-1.5	0.20703	N	0.99986	B	0.06786	0.001	B	0.04013	0.001	T	0.38023	-0.9680	9	0.02654	T	1	-4.923	0.0809	0.00031	0.3068:0.2493:0.2026:0.2413	.	30	Q9UBD3	XCL2_HUMAN	S	30	ENSP00000356793:R30S	ENSP00000356793:R30S	R	-	3	2	XCL2	166777941	0.000000	0.05858	0.006000	0.13384	0.053000	0.15095	-1.229000	0.02945	-0.144000	0.11314	-1.206000	0.01644	AGG		0.463	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		G	168511317	C	G	168511317	3	3	451	1	0	0	0	0	1	0	0	0	17424	854	30	3	262	3	XCL2	1	168511317	Missense_Mutation	SNP	C	TCGA-61-2016-01A-01W-0722-08	53254788	168511317	80739304	6	24934											
CWH43	80157	broad.mit.edu	37	4	49005847	49005847	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr4:49005847C>A	ENST00000226432.4	+	7	1081	c.898C>A	c.(898-900)Caa>Aaa	p.Q300K	CWH43_ENST00000513409.1_Missense_Mutation_p.Q273K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	300					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.Q300K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CATGTGGCCCCAAACACTTGG	0.483																																																1	Substitution - Missense(1)	ovary(1)	4											107	92	97					4																	49005847		2203	4300	6503	48700604	SO:0001583	missense	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.898C>A	4.37:g.49005847C>A	ENSP00000226432:p.Gln300Lys		48700604	B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	C	9.343	1.063614	0.20067	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.41758	1.58;0.99	3.91	3.91	0.45181	.	0.531645	0.16974	N	0.191990	T	0.40694	0.1127	L	0.60455	1.87	0.37158	D	0.902456	B	0.23249	0.082	B	0.21708	0.036	T	0.41928	-0.9481	9	.	.	.	.	15.3556	0.74425	0.0:1.0:0.0:0.0	.	300	Q9H720	PG2IP_HUMAN	K	300;273	ENSP00000226432:Q300K;ENSP00000422802:Q273K	.	Q	+	1	0	CWH43	48700604	0.939000	0.31865	0.995000	0.50966	0.037000	0.13140	3.094000	0.50227	2.480000	0.83734	0.591000	0.81541	CAA		0.483	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		A	49005847	C	A	49005847	3	1	451	1	0	0	0	0	1	0	0	0	4073	595	21	3	924	3	CWH43	4	49005847	Missense_Mutation	SNP	C	TCGA-61-2016-01A-01W-0722-08		49005847	142148429	7	24935											
SCML4	256380	broad.mit.edu	37	6	108070993	108070993	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr6:108070993G>T	ENST00000369020.3	-	3	426	c.181C>A	c.(181-183)Ccc>Acc	p.P61T	SCML4_ENST00000369021.3_Missense_Mutation_p.P32T|SCML4_ENST00000369022.2_Missense_Mutation_p.P3T	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P32T(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGGGCTAAGGGAGTCATGAGA	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											72	75	74					6																	108070993		2203	4300	6503	108177686	SO:0001583	missense	256380				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.181C>A	6.37:g.108070993G>T	ENSP00000358016:p.Pro61Thr		108177686	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476408	0.63737	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.68479	-0.33;0.57;0.29;0.58	5.31	5.31	0.75309	.	0.000000	0.51477	D	0.000087	T	0.78935	0.4362	M	0.70275	2.135	0.80722	D	1	D;P;D	0.89917	1.0;0.931;1.0	D;P;D	0.97110	0.997;0.688;1.0	T	0.80772	-0.1233	10	0.66056	D	0.02	.	18.9673	0.92701	0.0:0.0:1.0:0.0	.	61;61;32	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	T	3;61;32;32	ENSP00000358018:P3T;ENSP00000358016:P61T;ENSP00000358017:P32T;ENSP00000404688:P32T	ENSP00000358016:P61T	P	-	1	0	SCML4	108177686	1.000000	0.71417	0.994000	0.49952	0.148000	0.21650	9.373000	0.97168	2.448000	0.82819	0.655000	0.94253	CCC		0.582	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		T	108070993	G	T	108070993	3	4	451	1	0	0	0	0	1	0	0	0	13914	1174	41	3	1087	3	SCML4	6	108070993	Missense_Mutation	SNP	G	TCGA-61-2016-01A-01W-0722-08		108070993	63044074	8	24936											
OR2A4	79541	broad.mit.edu	37	6	132022469	132022469	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr6:132022469G>A	ENST00000315453.2	-	1	166	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	25					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L25F(1)		large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		CCAAAGAGGAGCATCTGAATC	0.517																																																1	Substitution - Missense(1)	ovary(1)	6											39	42	41					6																	132022469		2150	4201	6351	132064162	SO:0001583	missense	79541			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"GPCR / Class A : Olfactory receptors"	14729	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 10"	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.73C>T	6.37:g.132022469G>A	ENSP00000319546:p.Leu25Phe		132064162	Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	ENST00000315453.2	37	CCDS5149.1	.	.	.	.	.	.	.	.	.	.	-	4.575	0.106875	0.08780	.	.	ENSG00000180658	ENST00000315453	T	0.00637	6.05	1.38	-2.76	0.05896	.	1.453150	0.04988	N	0.466903	T	0.00144	0.0004	N	0.12527	0.23	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.35574	-0.9783	10	0.25106	T	0.35	.	1.6222	0.02716	0.4017:0.0:0.3041:0.2942	.	25	O95047	OR2A4_HUMAN	F	25	ENSP00000319546:L25F	ENSP00000319546:L25F	L	-	1	0	OR2A4	132064162	0.000000	0.05858	0.955000	0.39395	0.000000	0.00434	-0.331000	0.07914	-0.114000	0.11936	0.000000	0.15137	CTC		0.517	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908		A	132022469	G	A	132022469	3	1	451	1	0	0	0	0	1	0	0	0	10979	971	34	2	862	2	OR2A4	6	132022469	Missense_Mutation	SNP	G	TCGA-61-2016-01A-01W-0722-08	23951476	132022469	39092598	9	24937											
ZNF804B	219578	broad.mit.edu	37	7	88964402	88964402	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr7:88964402G>C	ENST00000333190.4	+	4	2715	c.2106G>C	c.(2104-2106)caG>caC	p.Q702H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	702							metal ion binding (GO:0046872)	p.Q702H(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTCTCCACAGTCATGTTTGA	0.408										HNSCC(36;0.09)																																						1	Substitution - Missense(1)	ovary(1)	7											91	92	92					7																	88964402		2202	4300	6502	88802338	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2106G>C	7.37:g.88964402G>C	ENSP00000329638:p.Gln702His		88802338	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	0.613	-0.824392	0.02755	.	.	ENSG00000182348	ENST00000333190	T	0.05382	3.45	4.84	-2.97	0.05530	.	0.723385	0.13069	N	0.416255	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.39014	-0.9634	10	0.33141	T	0.24	-0.0085	13.3975	0.60863	0.6162:0.0:0.3838:0.0	.	702	A4D1E1	Z804B_HUMAN	H	702	ENSP00000329638:Q702H	ENSP00000329638:Q702H	Q	+	3	2	ZNF804B	88802338	0.006000	0.16342	0.000000	0.03702	0.008000	0.06430	0.230000	0.17852	-0.546000	0.06216	-0.378000	0.06908	CAG		0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		C	88964402	G	C	88964402	3	2	451	1	0	0	0	0	1	0	0	0	18171	1020	36	3	2120	3	ZNF804B	7	88964402	Missense_Mutation	SNP	G	TCGA-61-2016-01A-01W-0722-08		88964402	70174261	10	24938											
DGKI	9162	broad.mit.edu	37	7	137304604	137304604	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr7:137304604G>A	ENST00000288490.5	-	8	959	c.959C>T	c.(958-960)cCg>cTg	p.P320L	DGKI_ENST00000453654.2_Missense_Mutation_p.P20L|DGKI_ENST00000446122.1_Missense_Mutation_p.P320L|DGKI_ENST00000424189.2_Missense_Mutation_p.P320L	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	320					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.P320L(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCAAGTGGGCGGGACAATAAC	0.493																																																1	Substitution - Missense(1)	ovary(1)	7											119	117	118					7																	137304604		2203	4300	6503	136955144	SO:0001583	missense	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.959C>T	7.37:g.137304604G>A	ENSP00000288490:p.Pro320Leu		136955144	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342690	0.95783	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.55413	0.86;0.52;0.71	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76266	-0.3022	10	0.59425	D	0.04	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	20;320	E9PFX6;O75912	.;DGKI_HUMAN	L	20;268;320;320;320	ENSP00000392161:P20L;ENSP00000288490:P320L;ENSP00000399131:P320L	ENSP00000288490:P320L	P	-	2	0	DGKI	136955144	1.000000	0.71417	0.972000	0.41901	0.941000	0.58515	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CCG		0.493	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		A	137304604	G	A	137304604	3	1	451	1	0	0	0	0	1	0	0	0	4471	1116	39	1	2346	1	DGKI	7	137304604	Missense_Mutation	SNP	G	TCGA-61-2016-01A-01W-0722-08	48340202	137304604	21834059	11	24939											
TRPV6	55503	broad.mit.edu	37	7	142569718	142569718	+	Silent	SNP	G	G	A			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr7:142569718G>A	ENST00000359396.3	-	15	2165	c.1920C>T	c.(1918-1920)aaC>aaT	p.N640N		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	640					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.N640N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCCGCTGCCGGTTGAGATCTT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	7											119	108	112					7																	142569718		2203	4300	6503	142279840	SO:0001819	synonymous_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1920C>T	7.37:g.142569718G>A			142279840	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	CCDS5874.1																																																																																				0.542	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		A	142569718	G	A	142569718	2	1	451	1	0	0	0	0	0	0	0	1	16600	1252	44	2		2	TRPV6	7	142569718	Silent	SNP	G	TCGA-61-2016-01A-01W-0722-08	5265114	142569718	16568945	12	24940											
FAT3	120114	broad.mit.edu	37	11	92531462	92531462	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr11:92531462T>A	ENST00000298047.6	+	9	5300	c.5283T>A	c.(5281-5283)gaT>gaA	p.D1761E	FAT3_ENST00000409404.2_Missense_Mutation_p.D1761E|FAT3_ENST00000525166.1_Missense_Mutation_p.D1611E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1761	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1761E(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGATTGTTGATGAAAATGATA	0.438										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											57	54	55					11																	92531462		1901	4125	6026	92171110	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5283T>A	11.37:g.92531462T>A	ENSP00000298047:p.Asp1761Glu		92171110	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	21.0	4.082416	0.76528	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.70869	-0.52;-0.52;-0.52	5.93	5.93	0.95920	.	.	.	.	.	D	0.89280	0.6670	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91878	0.5513	9	0.59425	D	0.04	.	11.4161	0.49954	0.0:0.0698:0.0:0.9302	.	1761	Q8TDW7-3	.	E	1761;1761;1611	ENSP00000298047:D1761E;ENSP00000387040:D1761E;ENSP00000432586:D1611E	ENSP00000298047:D1761E	D	+	3	2	FAT3	92171110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.260000	0.51523	2.273000	0.75805	0.482000	0.46254	GAT		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92531462	T	A	92531462	3	1	451	1	0	0	0	0	1	0	0	0	5691	1461	51	5	5317	5	FAT3	11	92531462	Missense_Mutation	SNP	T	TCGA-61-2016-01A-01W-0722-08		92531462	42475054	13	24941											
COQ10A	93058	broad.mit.edu	37	12	56661667	56661667	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr12:56661667G>C	ENST00000308197.5	+	2	485	c.224G>C	c.(223-225)gGa>gCa	p.G75A	COQ10A_ENST00000433805.2_Missense_Mutation_p.G43A|COQ10A_ENST00000546544.1_Missense_Mutation_p.G58A|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	75						mitochondrial inner membrane (GO:0005743)		p.G75A(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TCCTTCATGGGATTTGCTGCT	0.557																																																1	Substitution - Missense(1)	ovary(1)	12											136	139	138					12																	56661667		2055	4201	6256	54947934	SO:0001583	missense	93058			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"coenzyme Q10 homolog A (yeast)"				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.224G>C	12.37:g.56661667G>C	ENSP00000312587:p.Gly75Ala		54947934	Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	CCDS41796.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357962	0.61403	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.22336	1.97;1.98;1.96	5.14	5.14	0.70334	.	0.047975	0.85682	D	0.000000	T	0.19805	0.0476	L	0.54323	1.7	0.42629	D	0.99337	B;B;B	0.34161	0.171;0.255;0.439	B;B;B	0.33521	0.137;0.07;0.165	T	0.03103	-1.1072	10	0.16896	T	0.51	.	11.9878	0.53157	0.0848:0.0:0.9152:0.0	.	58;80;75	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	A	75;43;58	ENSP00000312587:G75A;ENSP00000407843:G43A;ENSP00000446723:G58A	ENSP00000312587:G75A	G	+	2	0	COQ10A	54947934	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.082000	0.50128	2.561000	0.86390	0.563000	0.77884	GGA		0.557	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		C	56661667	G	C	56661667	3	2	451	1	0	0	0	0	1	0	0	0	3743	1174	41	3	272	3	COQ10A	12	56661667	Missense_Mutation	SNP	G	TCGA-61-2016-01A-01W-0722-08		56661667	77190228	14	24942											
MOAP1	64112	broad.mit.edu	37	14	93650289	93650289	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr14:93650289T>C	ENST00000556883.1	-	2	783	c.299A>G	c.(298-300)aAt>aGt	p.N100S	MOAP1_ENST00000298894.4_Missense_Mutation_p.N100S|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	100					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)	p.N100S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		taaaaatgtattatctgggtc	0.488																																																1	Substitution - Missense(1)	ovary(1)	14											76	82	80					14																	93650289		2203	4300	6503	92720042	SO:0001583	missense	64112			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.299A>G	14.37:g.93650289T>C	ENSP00000451594:p.Asn100Ser		92720042	B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.773349	0.00640	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.08720	3.06;3.06	3.66	-1.15	0.09709	.	.	.	.	.	T	0.02533	0.0077	N	0.02539	-0.55	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.47018	-0.9149	9	0.07030	T	0.85	-3.4036	7.1565	0.25641	0.0:0.5029:0.0:0.4971	.	100	Q96BY2	MOAP1_HUMAN	S	100	ENSP00000298894:N100S;ENSP00000451594:N100S	ENSP00000298894:N100S	N	-	2	0	MOAP1	92720042	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.135000	0.10420	-0.217000	0.10033	0.529000	0.55759	AAT		0.488	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			C	93650289	T	C	93650289	3	2	451	1	0	0	0	0	1	0	0	0	9680	1493	52	4	760	4	MOAP1	14	93650289	Missense_Mutation	SNP	T	TCGA-61-2016-01A-01W-0722-08		93650289	13699251	15	24943											
SCNN1B	6338	broad.mit.edu	37	16	23391924	23391924	+	Silent	SNP	G	G	C	rs575122113		TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr16:23391924G>C	ENST00000343070.2	+	13	1901	c.1725G>C	c.(1723-1725)ccG>ccC	p.P575P	SCNN1B_ENST00000568923.1_Silent_p.P548P|SCNN1B_ENST00000568085.1_Silent_p.P539P|SCNN1B_ENST00000307331.5_Silent_p.P620P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	575					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.P575P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGGCCCACCGCCCACCGTGG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	16											55	62	60					16																	23391924		2197	4298	6495	23299425	SO:0001819	synonymous_variant	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1725G>C	16.37:g.23391924G>C			23299425	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	CCDS10609.1																																																																																				0.652	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			C	23391924	G	C	23391924	2	2	451	1	0	0	0	0	0	0	0	1	13931	1074	38	3		3	SCNN1B	16	23391924	Silent	SNP	G	TCGA-61-2016-01A-01W-0722-08		23391924	66962829	16	24944											
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr17:7578239C>A	ENST00000269305.4	-	6	799	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*	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	204	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)	TCCAAATACTCCACACGCAAA	0.542		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"	63	Substitution - Nonsense(39)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Substitution - Missense(3)|Complex - compound substitution(2)|Deletion - In frame(1)	lung(15)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|NS(5)|breast(4)|bone(4)|oesophagus(3)|ovary(3)|central_nervous_system(2)|stomach(1)|liver(1)|urinary_tract(1)|pancreas(1)	17											133	118	123					17																	7578239		2203	4300	6503	7518964	SO:0001587	stop_gained	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.610G>T	17.37:g.7578239C>A	ENSP00000269305:p.Glu204*		7518964	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489037	0.44249	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	-0.604	0.11626	.	0.445020	0.26082	N	0.026458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-5.2849	1.4244	0.02320	0.133:0.2829:0.3261:0.258	.	.	.	.	X	204;204;204;204;204;204;193;111;72;111;72	.	ENSP00000269305:E204X	E	-	1	0	TP53	7518964	0.600000	0.26899	0.018000	0.16275	0.030000	0.12068	0.945000	0.29056	-0.004000	0.14419	0.655000	0.94253	GAG		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578239	C	A	7578239	4	1	451	1	0	0	0	0	0	1	0	0	16381	864	30	3	684	3	TP53	17	7578239	Nonsense_Mutation	SNP	C	TCGA-61-2016-01A-01W-0722-08		7578239	73616971	17	24945											
ABCA10	10349	broad.mit.edu	37	17	67183849	67183849	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2016-01A-01W-0722-08	TCGA-61-2016-10A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	5bb50ee7-61f2-4531-8082-79d04b2f21dd	bbf640b8-6612-43c8-ac7e-f4f0f7781722	g.chr17:67183849C>A	ENST00000269081.4	-	20	3212	c.2303G>T	c.(2302-2304)aGg>aTg	p.R768M	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	768					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R768M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCTTTCACGCCTTAACTTTAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	17											119	114	116					17																	67183849		2203	4300	6503	64695444	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2303G>T	17.37:g.67183849C>A	ENSP00000269081:p.Arg768Met		64695444	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365285	0.41902	.	.	ENSG00000154263	ENST00000269081	T	0.76839	-1.05	2.76	-3.82	0.04281	.	.	.	.	.	T	0.79787	0.4506	L	0.52573	1.65	0.09310	N	0.999998	D;P	0.58970	0.984;0.955	P;P	0.59012	0.85;0.764	T	0.74006	-0.3803	9	0.72032	D	0.01	.	11.2034	0.48754	0.0:0.2493:0.0:0.7507	.	768;768	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	M	768	ENSP00000269081:R768M	ENSP00000269081:R768M	R	-	2	0	ABCA10	64695444	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.939000	0.03933	-0.785000	0.04522	0.411000	0.27672	AGG		0.358	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		A	67183849	C	A	67183849	3	1	451	1	0	0	0	0	1	0	0	0	29	681	24	3	2412	3	ABCA10	17	67183849	Missense_Mutation	SNP	C	TCGA-61-2016-01A-01W-0722-08	59605610	67183849	14011361	18	24946											
HSPG2	3339	broad.mit.edu	37	1	22222770	22222770	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr1:22222770A>G	ENST00000374695.3	-	2	176	c.97T>C	c.(97-99)Tct>Cct	p.S33P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	33					angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S33P(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCAGGCAGAGACAAGCCATCG	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											242	200	214					1																	22222770		2203	4300	6503	22095357	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.97T>C	1.37:g.22222770A>G	ENSP00000363827:p.Ser33Pro		22095357	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988552	0.53934	.	.	ENSG00000142798	ENST00000374695;ENST00000412328	T;T	0.79141	-1.24;0.31	4.85	4.85	0.62838	.	0.309418	0.20560	N	0.089934	T	0.65428	0.2690	L	0.27053	0.805	0.31014	N	0.718863	B	0.31153	0.31	B	0.28638	0.092	T	0.70626	-0.4820	10	0.72032	D	0.01	.	11.1154	0.48258	1.0:0.0:0.0:0.0	.	33	P98160	PGBM_HUMAN	P	33;12	ENSP00000363827:S33P;ENSP00000405412:S12P	ENSP00000363827:S33P	S	-	1	0	HSPG2	22095357	0.994000	0.37717	0.853000	0.33588	0.389000	0.30415	3.200000	0.51051	1.936000	0.56123	0.523000	0.50628	TCT		0.557	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		G	22222770	A	G	22222770	3	3	452	1	0	0	0	0	1	0	0	0	7430	275	10	4	13462	4	HSPG2	1	22222770	Missense_Mutation	SNP	A	TCGA-61-2088-01A-01W-0722-08		22222770	227027851	1	24947											
USP21	27005	broad.mit.edu	37	1	161130818	161130818	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr1:161130818C>T	ENST00000289865.8	+	2	609	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	USP21_ENST00000368002.3_Missense_Mutation_p.R130C|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Missense_Mutation_p.R130C	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	130					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R130C(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGGAGGGCACCGTGGCACCGG	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											80	74	76					1																	161130818		2203	4300	6503	159397442	SO:0001583	missense	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.388C>T	1.37:g.161130818C>T	ENSP00000289865:p.Arg130Cys		159397442	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692493	0.68271	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.45276	0.9;0.9;0.9	5.14	4.22	0.49857	.	0.632380	0.15419	N	0.263349	T	0.19005	0.0456	N	0.14661	0.345	0.41672	D	0.98924	D	0.63880	0.993	B	0.44315	0.446	T	0.06285	-1.0835	10	0.59425	D	0.04	.	14.7737	0.69699	0.0:0.8546:0.1453:0.0	.	130	Q9UK80	UBP21_HUMAN	C	130	ENSP00000356981:R130C;ENSP00000289865:R130C;ENSP00000356980:R130C	ENSP00000289865:R130C	R	+	1	0	USP21	159397442	0.813000	0.29090	0.869000	0.34112	0.993000	0.82548	1.707000	0.37888	1.381000	0.46364	0.561000	0.74099	CGT		0.627	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			T	161130818	C	T	161130818	3	4	452	1	0	0	0	0	1	0	0	0	17053	652	23	1	390	1	USP21	1	161130818	Missense_Mutation	SNP	C	TCGA-61-2088-01A-01W-0722-08	138908048	161130818	88119803	2	24948											
LRP1B	53353	broad.mit.edu	37	2	141202204	141202204	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr2:141202204G>A	ENST00000389484.3	-	64	11073	c.10102C>T	c.(10102-10104)Ctc>Ttc	p.L3368F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3368	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L3368F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAGCACAGAGTCCAGTCCCA	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	ovary(1)	2											98	91	94					2																	141202204		2203	4300	6503	140918674	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10102C>T	2.37:g.141202204G>A	ENSP00000374135:p.Leu3368Phe		140918674	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524692	0.85600	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95482	-3.72	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000002	D	0.94892	0.8349	N	0.25144	0.715	0.49687	D	0.999816	D	0.63880	0.993	P	0.61070	0.883	D	0.95049	0.8185	10	0.59425	D	0.04	.	14.9344	0.70941	0.0:0.0:0.857:0.143	.	3368	Q9NZR2	LRP1B_HUMAN	F	3368;3306	ENSP00000374135:L3368F	ENSP00000374135:L3368F	L	-	1	0	LRP1B	140918674	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	4.526000	0.60566	2.767000	0.95098	0.563000	0.77884	CTC		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141202204	G	A	141202204	3	1	452	1	0	0	0	0	1	0	0	0	8955	1029	36	2	3809	2	LRP1B	2	141202204	Missense_Mutation	SNP	G	TCGA-61-2088-01A-01W-0722-08		141202204	101997169	3	24949											
RTP3	83597	broad.mit.edu	37	3	46542042	46542042	+	Silent	SNP	C	C	T			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr3:46542042C>T	ENST00000296142.3	+	2	924	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L118L(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCTGAAAAACCTGGTGTTCCG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	3											94	96	95					3																	46542042		2203	4300	6503	46517046	SO:0001819	synonymous_variant	83597			AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"Receptor transporter proteins"	15572	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 3"	607181	"transmembrane protein 7", "receptor transporter protein 3"	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.352C>T	3.37:g.46542042C>T			46517046	A2RRP6	Silent	SNP	ENST00000296142.3	37	CCDS2740.1																																																																																				0.448	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		T	46542042	C	T	46542042	2	4	452	1	0	0	0	0	0	0	0	1	13738	680	24	2		2	RTP3	3	46542042	Silent	SNP	C	TCGA-61-2088-01A-01W-0722-08		46542042	151480388	4	24950											
MED12L	116931	broad.mit.edu	37	3	151105912	151105912	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr3:151105912G>T	ENST00000474524.1	+	35	5336	c.5298G>T	c.(5296-5298)aaG>aaT	p.K1766N	MED12L_ENST00000273432.4_Missense_Mutation_p.K1626N	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1766						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K1766K(1)|p.K1766N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAAGAAAAGAAAACAAAAG	0.448																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(1)|ovary(1)	3											52	50	51					3																	151105912		2203	4300	6503	152588602	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5298G>T	3.37:g.151105912G>T	ENSP00000417235:p.Lys1766Asn		152588602	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321053	0.60634	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62105	0.25;0.05	5.81	4.93	0.64822	.	0.099058	0.64402	D	0.000002	T	0.68824	0.3043	L	0.32530	0.975	0.53005	D	0.999964	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.994;0.991;0.987	T	0.65821	-0.6075	10	0.35671	T	0.21	-28.5688	14.8431	0.70240	0.0704:0.0:0.9296:0.0	.	1626;1765;1766	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	N	1766;1626	ENSP00000417235:K1766N;ENSP00000273432:K1626N	ENSP00000273432:K1626N	K	+	3	2	MED12L	152588602	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.137000	0.64789	2.746000	0.94184	0.655000	0.94253	AAG		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		T	151105912	G	T	151105912	3	4	452	1	0	0	0	0	1	0	0	0	9429	933	33	3	5436	3	MED12L	3	151105912	Missense_Mutation	SNP	G	TCGA-61-2088-01A-01W-0722-08	104563870	151105912	46916518	5	24951											
C4orf23	152992	broad.mit.edu	37	4	8477664	8477664	+	Missense_Mutation	SNP	C	C	T	rs576421639		TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr4:8477664C>T	ENST00000389737.4	+	11	2210	c.2210C>T	c.(2209-2211)cCg>cTg	p.P737L	TRMT44_ENST00000511366.2_3'UTR	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	737					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.P345L(1)									GACTGCTGCCCGTTTGCCCAT	0.622													C|||	1	0.000199681	0	0	5008	,	,		18030	0		0.001	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	4											110	117	115					4																	8477664		2203	4300	6503	8528564	SO:0001583	missense	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.2210C>T	4.37:g.8477664C>T	ENSP00000374387:p.Pro737Leu		8528564	Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398371	0.25205	.	.	ENSG00000155275	ENST00000389737;ENST00000285635	T	0.18338	2.22	5.32	4.48	0.54585	Zinc finger, CCCH-type (1);	0.141026	0.48767	D	0.000177	T	0.17534	0.0421	L	0.53671	1.685	0.44469	D	0.997408	B	0.14012	0.009	B	0.13407	0.009	T	0.02736	-1.1117	10	0.52906	T	0.07	-22.1768	9.8743	0.41194	0.1383:0.7887:0.0:0.073	.	737	Q8IYL2	TRM44_HUMAN	L	737;345	ENSP00000374387:P737L	ENSP00000285635:P345L	P	+	2	0	METTL19	8528564	0.903000	0.30736	0.855000	0.33649	0.005000	0.04900	2.273000	0.43381	1.249000	0.43950	-0.137000	0.14449	CCG		0.622	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		T	8477664	C	T	8477664	3	4	452	1	0	0	0	0	1	0	0	0	2256	652	23	1	2252	1	C4orf23	4	8477664	Missense_Mutation	SNP	C	TCGA-61-2088-01A-01W-0722-08		8477664	182676612	6	24952											
MAP3K1	4214	broad.mit.edu	37	5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr5:56181765C>T	ENST00000399503.3	+	17	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343																																																0			5											76	70	72					5																	56181765		1823	4067	5890	56217522	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3989C>T	5.37:g.56181765C>T	ENSP00000382423:p.Ser1330Leu		56217522		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760742	0.89932	.	.	ENSG00000095015	ENST00000399503	T	0.30981	1.51	5.51	5.51	0.81932	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	0.58163	0.2103	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.61372	-0.7076	10	0.87932	D	0	.	19.414	0.94688	0.0:1.0:0.0:0.0	.	1330	Q13233	M3K1_HUMAN	L	1330	ENSP00000382423:S1330L	ENSP00000382423:S1330L	S	+	2	0	MAP3K1	56217522	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.743000	0.62110	2.591000	0.87537	0.655000	0.94253	TCG		0.343	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		T	56181765	C	T	56181765	3	4	452	1	0	0	0	0	1	0	0	0	9243	893	31	1	4055	1	MAP3K1	5	56181765	Missense_Mutation	SNP	C	TCGA-61-2088-01A-01W-0722-08		56181765	124733495	7	24953											
COL11A2	1302	broad.mit.edu	37	6	33141811	33141811	+	Missense_Mutation	SNP	G	G	A	rs553959025		TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr6:33141811G>A	ENST00000374708.4	-	31	2506	c.2248C>T	c.(2248-2250)Cct>Tct	p.P750S	COL11A2_ENST00000357486.1_Missense_Mutation_p.P815S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P789S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P729S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P776S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P810S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.P755S|COL11A2_ENST00000341947.2_Missense_Mutation_p.P836S	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	836	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P836S(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCTCCCCGAGGCCCTGACTTC	0.617																																					Melanoma(1;90 116 3946 5341 17093)											1	Substitution - Missense(1)	ovary(1)	6											55	56	56					6																	33141811		1511	2709	4220	33249789	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2248C>T	6.37:g.33141811G>A	ENSP00000363840:p.Pro750Ser		33249789	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431979	0.62844	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.41492	1.28	0.80722	D	1	B;B;D	0.89917	0.147;0.147;1.0	B;B;D	0.79108	0.092;0.091;0.992	T	0.51919	-0.8644	10	0.51188	T	0.08	.	14.6041	0.68463	0.0:0.0:1.0:0.0	.	729;750;836	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	S	750;836;815;810;789;776;755;729	ENSP00000363840:P750S;ENSP00000339915:P836S;ENSP00000350079:P815S;ENSP00000363846:P810S;ENSP00000363845:P789S;ENSP00000378623:P776S;ENSP00000363844:P755S;ENSP00000355123:P729S	ENSP00000339915:P836S	P	-	1	0	COL11A2	33249789	1.000000	0.71417	0.988000	0.46212	0.924000	0.55760	4.005000	0.57075	2.306000	0.77630	0.448000	0.29417	CCT		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			A	33141811	G	A	33141811	3	1	452	1	0	0	0	0	1	0	0	0	3668	1203	42	2	2840	2	COL11A2	6	33141811	Missense_Mutation	SNP	G	TCGA-61-2088-01A-01W-0722-08		33141811	137973256	8	24954											
WNT2	7472	broad.mit.edu	37	7	116955206	116955206	+	Silent	SNP	G	G	A	rs370359868		TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr7:116955206G>A	ENST00000265441.3	-	3	806	c.507C>T	c.(505-507)cgC>cgT	p.R169R	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	169					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R169R(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCACAAATGCGCGGGCAAATT	0.483																																																1	Substitution - coding silent(1)	ovary(1)	7						G		0,4406		0,0,2203	140	128	132		507	-11.3	0.4	7		132	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WNT2	NM_003391.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		169/361	116955206	2,13004	2203	4300	6503	116742442	SO:0001819	synonymous_variant	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.507C>T	7.37:g.116955206G>A			116742442	A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	CCDS5771.1																																																																																				0.483	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		A	116955206	G	A	116955206	2	1	452	1	0	0	0	0	0	0	0	1	17386	1074	38	1		1	WNT2	7	116955206	Silent	SNP	G	TCGA-61-2088-01A-01W-0722-08		116955206	42183457	9	24955											
RERG	85004	broad.mit.edu	37	12	15262110	15262110	+	Silent	SNP	C	C	T			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr12:15262110C>T	ENST00000256953.2	-	5	870	c.534G>A	c.(532-534)agG>agA	p.R178R	RERG_ENST00000536465.1_Silent_p.R178R|RERG_ENST00000546331.1_Silent_p.R159R|RERG_ENST00000538313.1_Silent_p.R178R	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	178					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R178R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						AGCTGCGTCGCCTCGTCTTGC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	12											125	117	120					12																	15262110		2203	4300	6503	15153377	SO:0001819	synonymous_variant	85004			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.534G>A	12.37:g.15262110C>T			15153377	B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	CCDS8673.1																																																																																				0.527	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		T	15262110	C	T	15262110	2	4	452	1	0	0	0	0	0	0	0	1	13235	738	26	2		2	RERG	12	15262110	Silent	SNP	C	TCGA-61-2088-01A-01W-0722-08		15262110	118589785	10	24956											
ZNF140	7699	broad.mit.edu	37	12	133659687	133659687	+	Splice_Site	SNP	A	A	C			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr12:133659687A>C	ENST00000355557.2	+	3	1292		c.e3-1		ZNF140_ENST00000440550.2_Splice_Site|ZNF140_ENST00000319849.3_Splice_Site|ZNF140_ENST00000544426.1_Intron	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140						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.?(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCGTCATTTCAGGGGTCAGTG	0.473																																																1	Unknown(1)	ovary(1)	12											0	1	1					12																	133659687		0	2	2	132169760	SO:0001630	splice_region_variant	7699			U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"Zinc fingers, C2H2-type", "-"	12925	protein-coding gene	gene with protein product		604082	"zinc finger protein 140 (clone pHZ-39)"			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.10-1A>C	12.37:g.133659687A>C			132169760	D3DXJ3|Q05CP6|Q8IV75	Splice_Site	SNP	ENST00000355557.2	37	CCDS9282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.06|14.06	2.421932|2.421932	0.43020|0.43020	.|.	.|.	ENSG00000196387|ENSG00000196387	ENST00000355557;ENST00000356456;ENST00000440984;ENST00000319849;ENST00000440550|ENST00000429434	.|T	.|0.01051	.|5.4	2.89|2.89	2.89|2.89	0.33648|0.33648	.|.	.|.	.|.	.|.	.|.	.|T	.|0.02649	.|0.0080	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55503	.|-0.8131	.|6	.|0.66056	.|D	.|0.02	.|.	7.6177|7.6177	0.28167|0.28167	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|P	-1|19	.|ENSP00000415499:Q19P	.|ENSP00000415499:Q19P	.|Q	+|+	.|2	.|0	ZNF140|ZNF140	132169760|132169760	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.851000|0.851000	0.48451|0.48451	3.937000|3.937000	0.56575|0.56575	1.564000|1.564000	0.49628|0.49628	0.460000|0.460000	0.39030|0.39030	.|CAG		0.473	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440	Intron	C	133659687	A	C	133659687	5	2	452	1	0	0	0	0	0	0	1	0	17729	202	7	5	14	5	ZNF140	12	133659687	Splice_Site	SNP	A	TCGA-61-2088-01A-01W-0722-08	118397577	133659687	192208	11	24957											
GPR132	29933	broad.mit.edu	37	14	105518022	105518022	+	Missense_Mutation	SNP	C	C	T	rs569054802		TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr14:105518022C>T	ENST00000329797.3	-	4	1363	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	GPR132_ENST00000539291.2_Missense_Mutation_p.R151Q|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.R142Q	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	151	Poly-Arg.				G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R151Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCGGCGGCCCCGACTCTCCAG	0.617													C|||	1	0.000199681	0	0	5008	,	,		17683	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	14											69	65	66					14																	105518022		2203	4300	6503	104589067	SO:0001583	missense	29933			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.452G>A	14.37:g.105518022C>T	ENSP00000328818:p.Arg151Gln		104589067	A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788526	0.49997	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.72282	-0.64;-0.64;-0.64	4.97	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.518595	0.16719	N	0.202350	T	0.75451	0.3851	M	0.63169	1.94	0.19300	N	0.99998	D;D	0.69078	0.997;0.997	P;P	0.60541	0.876;0.876	T	0.63567	-0.6608	10	0.16420	T	0.52	.	9.7725	0.40598	0.0:0.8321:0.0:0.1679	.	142;151	B4E144;Q9UNW8	.;GP132_HUMAN	Q	151;142;151	ENSP00000328818:R151Q;ENSP00000376364:R142Q;ENSP00000438094:R151Q	ENSP00000328818:R151Q	R	-	2	0	GPR132	104589067	0.521000	0.26258	0.180000	0.23079	0.092000	0.18411	1.195000	0.32186	1.077000	0.40990	0.563000	0.77884	CGG		0.617	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		T	105518022	C	T	105518022	3	4	452	1	0	0	0	0	1	0	0	0	6642	652	23	1	694	1	GPR132	14	105518022	Missense_Mutation	SNP	C	TCGA-61-2088-01A-01W-0722-08		105518022	1831518	12	24958											
TP53	7157	broad.mit.edu	37	17	7577563	7577571	+	In_Frame_Del	DEL	TGTTACACA	TGTTACACA	-	rs193920789|rs397516437|rs587782664		TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	TGTTACACA	TGTTACACA	TGTTACACA	-	TGTTACACA	TGTTACACA	Unknown	Valid	Somatic	Phase_I	Capture	Sanger_PCR_WGA			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr17:7577563_7577571delTGTTACACA	ENST00000269305.4	-	7	899_907	c.710_718delTGTGTAACA	c.(709-720)atgtgtaacagt>agt	p.MCN237del	TP53_ENST00000359597.4_In_Frame_Del_p.MCN237del|TP53_ENST00000455263.2_In_Frame_Del_p.MCN237del|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_In_Frame_Del_p.MCN237del|TP53_ENST00000445888.2_In_Frame_Del_p.MCN237del|TP53_ENST00000413465.2_In_Frame_Del_p.MCN237del	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.C238Y(65)|p.C238F(46)|p.N239D(33)|p.N239S(28)|p.C238S(21)|p.N239fs*25(14)|p.S240G(14)|p.C238R(14)|p.M237K(11)|p.0?(8)|p.N239K(7)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.M144I(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.C238G(4)|p.C238*(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.M237R(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.C238W(2)|p.S240fs*7(2)|p.M237fs*10(2)|p.N239_S240delNS(2)|p.M237T(2)|p.M144K(1)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.S240P(1)|p.H233_C242del10(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.N239I(1)|p.M237fs*1(1)|p.N239N(1)|p.C145S(1)|p.S240R(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.Y236_M237delYM(1)|p.N239*(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.C238fs*2(1)|p.C145G(1)|p.C238_N239insX(1)|p.N239_C242del(1)|p.M237_C238insX(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)	ATGCAGGAACTGTTACACATGTAGTTGTA	0.579		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"	478	Substitution - Missense(396)|Insertion - Frameshift(24)|Deletion - In frame(16)|Deletion - Frameshift(14)|Whole gene deletion(8)|Substitution - Nonsense(5)|Insertion - In frame(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	ovary(52)|breast(52)|lung(51)|large_intestine(43)|upper_aerodigestive_tract(42)|haematopoietic_and_lymphoid_tissue(39)|endometrium(27)|oesophagus(27)|central_nervous_system(26)|urinary_tract(19)|liver(17)|biliary_tract(15)|soft_tissue(14)|stomach(13)|pancreas(12)|bone(9)|prostate(6)|skin(5)|kidney(5)|thyroid(2)|meninges(1)|testis(1)	17	GRCh37	CM011014|CM025271|CM034930|CM056070	TP53	M																																				7518296	SO:0001651	inframe_deletion	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.710_718delTGTGTAACA	17.37:g.7577563_7577571delTGTTACACA	ENSP00000269305:p.Met237_Asn239del		7518288	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	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.579	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577571	TGTTACACA	-	7577563	7	5	452	1	0	1	0	1	0	0	0	0	16381	1580	55	0	572	0	TP53	17	7577563	In_Frame_Del	DEL	TGTTACACA	TCGA-61-2088-01A-01W-0722-08		7577563	73617647	13	24959											
MYH1	4619	broad.mit.edu	37	17	10398315	10398315	+	Missense_Mutation	SNP	C	C	T	rs145148453		TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr17:10398315C>T	ENST00000226207.5	-	37	5493	c.5399G>A	c.(5398-5400)cGt>cAt	p.R1800H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1800					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1800H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATCCAGACGATGCTGCAG	0.557																																																1	Substitution - Missense(1)	ovary(1)	17						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	144	139	141		5399	5.3	1	17	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH1	NM_005963.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1800/1940	10398315	2,13004	2203	4300	6503	10339040	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5399G>A	17.37:g.10398315C>T	ENSP00000226207:p.Arg1800His		10339040	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516170	0.85495	2.27E-4	1.16E-4	ENSG00000109061	ENST00000226207	D	0.82526	-1.62	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.44097	U	0.000488	D	0.91553	0.7332	H	0.97918	4.105	0.58432	D	0.999999	P	0.47106	0.89	P	0.44990	0.466	D	0.94554	0.7756	10	0.87932	D	0	.	19.2282	0.93825	0.0:1.0:0.0:0.0	.	1800	P12882	MYH1_HUMAN	H	1800	ENSP00000226207:R1800H	ENSP00000226207:R1800H	R	-	2	0	MYH1	10339040	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.042000	0.70996	2.616000	0.88540	0.561000	0.74099	CGT		0.557	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10398315	C	T	10398315	3	4	452	1	0	0	0	0	1	0	0	0	10029	536	19	1	436	1	MYH1	17	10398315	Missense_Mutation	SNP	C	TCGA-61-2088-01A-01W-0722-08	2820752	10398315	70796895	14	24960											
SUPT6H	6830	broad.mit.edu	37	17	27005898	27005898	+	Silent	SNP	T	T	G			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr17:27005898T>G	ENST00000314616.6	+	11	1549	c.1266T>G	c.(1264-1266)gcT>gcG	p.A422A	SUPT6H_ENST00000347486.4_Silent_p.A422A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	422	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A422A(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGATGCAGGCTTATCAGTATG	0.512																																																1	Substitution - coding silent(1)	ovary(1)	17											134	127	129					17																	27005898		2203	4300	6503	24030025	SO:0001819	synonymous_variant	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1266T>G	17.37:g.27005898T>G			24030025	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																				0.512	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		G	27005898	T	G	27005898	2	3	452	1	0	0	0	0	0	0	0	1	15400	1596	56	5		5	SUPT6H	17	27005898	Silent	SNP	T	TCGA-61-2088-01A-01W-0722-08	16607583	27005898	54189312	15	24961											
ANKRD13B	124930	broad.mit.edu	37	17	27937716	27937716	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr17:27937716C>G	ENST00000394859.3	+	8	990	c.836C>G	c.(835-837)tCt>tGt	p.S279C	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	279						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.S279C(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TATGGGGCATCTAACGTGGAG	0.532																																																1	Substitution - Missense(1)	ovary(1)	17											120	94	103					17																	27937716		2203	4300	6503	24961842	SO:0001583	missense	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.836C>G	17.37:g.27937716C>G	ENSP00000378328:p.Ser279Cys		24961842	Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639482	0.87760	.	.	ENSG00000198720	ENST00000394859	T	0.48522	0.81	5.86	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.82517	2.595	0.80722	D	1	P	0.37688	0.605	P	0.52343	0.696	T	0.72114	-0.4388	10	0.66056	D	0.02	-28.9271	15.9124	0.79482	0.0:0.8641:0.1359:0.0	.	279	Q86YJ7	AN13B_HUMAN	C	279	ENSP00000378328:S279C	ENSP00000378328:S279C	S	+	2	0	ANKRD13B	24961842	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.131000	0.42074	1.459000	0.47892	0.650000	0.86243	TCT		0.532	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		G	27937716	C	G	27937716	3	3	452	1	0	0	0	0	1	0	0	0	642	913	32	3	866	3	ANKRD13B	17	27937716	Missense_Mutation	SNP	C	TCGA-61-2088-01A-01W-0722-08	931818	27937716	53257494	16	24962											
FARSA	2193	broad.mit.edu	37	19	13039613	13039613	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chr19:13039613G>T	ENST00000314606.4	-	5	570	c.552C>A	c.(550-552)agC>agA	p.S184R	FARSA_ENST00000423140.2_Intron|FARSA_ENST00000588025.1_Missense_Mutation_p.S224R|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	184					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.S184R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GCTTGGAGATGCTGGTACTAA	0.617																																																1	Substitution - Missense(1)	ovary(1)	19											136	116	123					19																	13039613		2203	4300	6503	12900613	SO:0001583	missense	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.552C>A	19.37:g.13039613G>T	ENSP00000320309:p.Ser184Arg		12900613	B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866066	0.32977	.	.	ENSG00000179115	ENST00000314606	T	0.63744	-0.06	4.94	0.349	0.16032	.	0.096183	0.64402	D	0.000001	T	0.52805	0.1757	M	0.64997	1.995	0.40810	D	0.983419	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.43294	-0.9400	10	0.33141	T	0.24	-15.9222	8.7979	0.34890	0.4004:0.0:0.5996:0.0	.	184;184	Q6IBR2;Q9Y285	.;SYFA_HUMAN	R	184	ENSP00000320309:S184R	ENSP00000320309:S184R	S	-	3	2	FARSA	12900613	0.001000	0.12720	0.827000	0.32855	0.995000	0.86356	-0.364000	0.07583	0.021000	0.15133	0.563000	0.77884	AGC		0.617	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		T	13039613	G	T	13039613	3	4	452	1	0	0	0	0	1	0	0	0	5679	1310	46	3	1010	3	FARSA	19	13039613	Missense_Mutation	SNP	G	TCGA-61-2088-01A-01W-0722-08		13039613	46089370	17	24963											
PIGA	5277	broad.mit.edu	37	X	15349505	15349505	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2088-01A-01W-0722-08	TCGA-61-2088-11A-01W-0722-08	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	---			Illumina GAIIx	4c6653f9-1392-4ce5-8da0-ccbe33a02c21	bfa13152-b083-4497-90e1-580eda689b62	g.chrX:15349505C>T	ENST00000333590.4	-	2	632	c.548G>A	c.(547-549)tGt>tAt	p.C183Y	PIGA_ENST00000482148.1_Intron|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	183					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)	p.C183Y(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					ATAAGACACACAAATGATGTG	0.413																																																1	Substitution - Missense(1)	ovary(1)	X											123	99	107					X																	15349505		2203	4300	6503	15259426	SO:0001583	missense	5277			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"Glycosyltransferase group 1 domain containing", "Phosphatidylinositol glycan anchor biosynthesis"	8957	protein-coding gene	gene with protein product	"paroxysmal nocturnal hemoglobinuria", "phosphatidylinositol N-acetylglucosaminyltransferase"	311770	"phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.548G>A	X.37:g.15349505C>T	ENSP00000369820:p.Cys183Tyr		15259426	B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926656	0.73327	.	.	ENSG00000165195	ENST00000333590	T	0.76060	-0.99	5.88	5.88	0.94601	.	0.080951	0.85682	D	0.000000	D	0.87354	0.6156	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88623	0.3164	10	0.87932	D	0	-9.7569	18.0155	0.89239	0.0:1.0:0.0:0.0	.	183	P37287	PIGA_HUMAN	Y	183	ENSP00000369820:C183Y	ENSP00000369820:C183Y	C	-	2	0	PIGA	15259426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.456000	0.80751	2.476000	0.83614	0.544000	0.68410	TGT		0.413	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		T	15349505	C	T	15349505	3	4	452	1	0	0	0	0	1	0	0	0	11884	478	17	2	926	2	PIGA	23	15349505	Missense_Mutation	SNP	C	TCGA-61-2088-01A-01W-0722-08		15349505	139921055	18	24964											
MACF1	23499	broad.mit.edu	37	1	39900293	39900293	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr1:39900293G>C	ENST00000372915.3	+	67	17548	c.17461G>C	c.(17461-17463)Gag>Cag	p.E5821Q	MACF1_ENST00000289893.4_Missense_Mutation_p.E4365Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E5962Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3733Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E5925Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E3863Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E3863Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E3863Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5821					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E3863Q(1)|p.E4365Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGCAACAAGAGGAAATGAG	0.408																																																2	Substitution - Missense(2)	ovary(2)	1											61	61	61					1																	39900293		2203	4300	6503	39672880	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17461G>C	1.37:g.39900293G>C	ENSP00000362006:p.Glu5821Gln		39672880	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.369627|4.369627	0.82573|0.82573	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.49720|.	0.77;0.77;0.77;0.77;0.77;0.77|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.77054|0.77054	0.4074|0.4074	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;0.998|.	D;D;D|.	0.78314|.	0.965;0.991;0.962|.	T|T	0.74813|0.74813	-0.3537|-0.3537	10|5	0.72032|.	D|.	0.01|.	.|.	20.0706|20.0706	0.97721|0.97721	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5821;3863;3807|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Q|T	3863;5821;3863;3863;3733;4365|2866	ENSP00000439537:E3863Q;ENSP00000362006:E5821Q;ENSP00000354573:E3863Q;ENSP00000313438:E3863Q;ENSP00000444364:E3733Q;ENSP00000289893:E4365Q|.	ENSP00000289893:E4365Q|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39672880|39672880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.813000|9.813000	0.99286|0.99286	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		C	39900293	G	C	39900293	3	2	453	1	0	0	0	0	1	0	0	0	9144	943	33	3	17992	3	MACF1	1	39900293	Missense_Mutation	SNP	G	TCGA-61-2092-01A-01W-0722-08		39900293	209350328	1	24965											
ADAR	103	broad.mit.edu	37	1	154562394	154562394	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr1:154562394G>A	ENST00000368474.4	-	8	2706	c.2507C>T	c.(2506-2508)aCt>aTt	p.T836I	ADAR_ENST00000368471.3_Missense_Mutation_p.T541I|ADAR_ENST00000292205.5_Missense_Mutation_p.T879I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	836					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T836I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGTGCTGCCAGTGAGAGGGAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											52	41	44					1																	154562394		2203	4300	6503	152829018	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2507C>T	1.37:g.154562394G>A	ENSP00000357459:p.Thr836Ile		152829018	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474978	0.63737	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.14516	2.68;2.69;2.5;2.67	5.18	4.25	0.50352	.	0.402431	0.27064	N	0.021105	T	0.06280	0.0162	N	0.14661	0.345	0.29861	N	0.82767	P;D;D	0.55800	0.941;0.973;0.966	P;P;P	0.51385	0.668;0.668;0.518	T	0.16276	-1.0408	10	0.38643	T	0.18	-11.6321	14.007	0.64470	0.0:0.473:0.527:0.0	.	791;810;836	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	I	879;836;541;805	ENSP00000292205:T879I;ENSP00000357459:T836I;ENSP00000357456:T541I;ENSP00000431794:T805I	ENSP00000292205:T879I	T	-	2	0	ADAR	152829018	0.831000	0.29352	0.871000	0.34182	0.978000	0.69477	1.331000	0.33793	1.390000	0.46547	0.563000	0.77884	ACT		0.562	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		A	154562394	G	A	154562394	3	1	453	1	0	0	0	0	1	0	0	0	281	1029	36	2	1205	2	ADAR	1	154562394	Missense_Mutation	SNP	G	TCGA-61-2092-01A-01W-0722-08	114662101	154562394	94688227	2	24966											
DLEC1	9940	broad.mit.edu	37	3	38139095	38139095	+	Silent	SNP	G	G	A	rs201876719		TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr3:38139095G>A	ENST00000308059.6	+	17	2553	c.2532G>A	c.(2530-2532)tcG>tcA	p.S844S	DLEC1_ENST00000346219.3_Silent_p.S844S|DLEC1_ENST00000452631.2_Silent_p.S844S					deleted in lung and esophageal cancer 1									p.S844S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACTCGCCCTCGCCAGTGGTGT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	3											48	53	51					3																	38139095		2057	4187	6244	38114099	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2532G>A	3.37:g.38139095G>A			38114099		Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																				0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		A	38139095	G	A	38139095	2	1	453	1	0	0	0	0	0	0	0	1	4552	1074	38	1		1	DLEC1	3	38139095	Silent	SNP	G	TCGA-61-2092-01A-01W-0722-08		38139095	159883335	3	24967											
PI4K2B	55300	broad.mit.edu	37	4	25258233	25258233	+	Silent	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr4:25258233G>A	ENST00000264864.6	+	4	882	c.693G>A	c.(691-693)aaG>aaA	p.K231K	PI4K2B_ENST00000512921.1_Silent_p.K135K	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	231	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.K231K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GAGGCAAAAAGTATGCTTTAG	0.373																																																1	Substitution - coding silent(1)	ovary(1)	4											118	119	119					4																	25258233		2203	4300	6503	24867331	SO:0001819	synonymous_variant	55300			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.693G>A	4.37:g.25258233G>A			24867331	Q9NUW2	Silent	SNP	ENST00000264864.6	37	CCDS3433.1																																																																																				0.373	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		A	25258233	G	A	25258233	2	1	453	1	0	0	0	0	0	0	0	1	11872	1020	36	2		2	PI4K2B	4	25258233	Silent	SNP	G	TCGA-61-2092-01A-01W-0722-08		25258233	165896043	4	24968											
PCDHGA11	56105	broad.mit.edu	37	5	140801598	140801598	+	Silent	SNP	G	G	A	rs377701820		TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr5:140801598G>A	ENST00000398587.2	+	1	837	c.804G>A	c.(802-804)acG>acA	p.T268T	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.T268T|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATGCAACGGATCCAGACG	0.438													g|||	1	0.000199681	0	0	5008	,	,		20294	0.001		0	False		,,,				2504	0															0			5						G	,,,,,,,,,,,,,,,,,,,	0,3800		0,0,1900	135	138	137		,,,804,,,,,,,,,,,,,,,804,804	-8.2	1	5	dbSNP_134	137	1,8231		0,1,4115	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032091.1,NM_032092.1	,,,,,,,,,,,,,,,,,,,	0,1,6015	AA,AG,GG		0.0121,0.0,0.0083	,,,,,,,,,,,,,,,,,,,	,,,268/936,,,,,,,,,,,,,,,268/838,268/751	140801598	1,12031	1900	4116	6016	140781782	SO:0001819	synonymous_variant	56105			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.804G>A	5.37:g.140801598G>A			140781782	B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	CCDS47294.1																																																																																				0.438	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		A	140801598	G	A	140801598	2	1	453	1	0	0	0	0	0	0	0	1	11552	1103	39	1		1	PCDHGA11	5	140801598	Silent	SNP	G	TCGA-61-2092-01A-01W-0722-08		140801598	40113662	5	24969											
EBF1	1879	broad.mit.edu	37	5	158524048	158524048	+	Silent	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr5:158524048G>A	ENST00000313708.6	-	2	507	c.225C>T	c.(223-225)taC>taT	p.Y75Y	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.Y75Y|EBF1_ENST00000517373.1_Silent_p.Y75Y	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	75					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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.Y75Y(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGTCTGTCGTAGAGGGCCA	0.622			T	HMGA2	lipoma																																		Dom	yes		5	5q34	1879	early B-cell factor 1		M	1	Substitution - coding silent(1)	ovary(1)	5											53	47	49					5																	158524048		2203	4300	6503	158456626	SO:0001819	synonymous_variant	1879			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.225C>T	5.37:g.158524048G>A			158456626	Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																				0.622	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		A	158524048	G	A	158524048	2	1	453	1	0	0	0	0	0	0	0	1	4880	1140	40	1		1	EBF1	5	158524048	Silent	SNP	G	TCGA-61-2092-01A-01W-0722-08	17722450	158524048	22391212	6	24970											
GPNMB	10457	broad.mit.edu	37	7	23296642	23296642	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr7:23296642G>A	ENST00000381990.2	+	4	660	c.499G>A	c.(499-501)Gga>Aga	p.G167R	GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000258733.4_Missense_Mutation_p.G167R|GPNMB_ENST00000409458.3_Missense_Mutation_p.G167R|GPNMB_ENST00000539136.1_Missense_Mutation_p.G68R	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	167					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.G167R(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TCACCACCCCGGATGGAGAAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	7											124	114	118					7																	23296642		2203	4300	6503	23263167	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.499G>A	7.37:g.23296642G>A	ENSP00000371420:p.Gly167Arg		23263167	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319264	0.60524	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	4.68	1.7	0.24286	.	0.254132	0.33515	N	0.004830	T	0.18087	0.0434	M	0.70595	2.14	0.80722	D	1	B;B;B;B	0.28667	0.219;0.14;0.163;0.219	B;B;B;B	0.22880	0.034;0.015;0.042;0.023	T	0.03534	-1.1027	10	0.51188	T	0.08	-0.385	9.9042	0.41366	0.0736:0.2611:0.6653:0.0	.	68;167;167;167	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	R	167;202;167;167;68	ENSP00000258733:G167R;ENSP00000371420:G167R;ENSP00000386476:G167R;ENSP00000445266:G68R	ENSP00000258733:G167R	G	+	1	0	GPNMB	23263167	1.000000	0.71417	0.001000	0.08648	0.521000	0.34408	5.237000	0.65360	0.106000	0.17784	0.561000	0.74099	GGA		0.473	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		A	23296642	G	A	23296642	3	1	453	1	0	0	0	0	1	0	0	0	6620	1117	39	1	513	1	GPNMB	7	23296642	Missense_Mutation	SNP	G	TCGA-61-2092-01A-01W-0722-08		23296642	135842021	7	24971											
PCLO	27445	broad.mit.edu	37	7	82581858	82581858	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr7:82581858G>A	ENST00000333891.9	-	5	8748	c.8411C>T	c.(8410-8412)gCa>gTa	p.A2804V	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.A2804V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A2804V(1)|p.A2735V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTGTAACTTGCACTAGCTGT	0.463																																																2	Substitution - Missense(2)	ovary(2)	7											199	175	183					7																	82581858		2051	4187	6238	82419794	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8411C>T	7.37:g.82581858G>A	ENSP00000334319:p.Ala2804Val		82419794		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.019	0.759292	0.15846	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.14022	2.55;2.54	5.69	2.46	0.29980	.	.	.	.	.	T	0.03739	0.0106	N	0.00729	-1.24	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.32824	-0.9892	9	0.87932	D	0	.	3.5996	0.08019	0.3184:0.0:0.4952:0.1864	.	2804;2804	Q9Y6V0-5;Q9Y6V0-6	.;.	V	2735;2804;2804	ENSP00000334319:A2804V;ENSP00000388393:A2804V	ENSP00000334319:A2804V	A	-	2	0	PCLO	82419794	0.001000	0.12720	0.598000	0.28837	0.911000	0.54048	1.188000	0.32102	0.749000	0.32854	0.655000	0.94253	GCA		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82581858	G	A	82581858	3	1	453	1	0	0	0	0	1	0	0	0	11583	1319	46	2	7118	2	PCLO	7	82581858	Missense_Mutation	SNP	G	TCGA-61-2092-01A-01W-0722-08	59285216	82581858	76556805	8	24972											
ZSCAN21	7589	broad.mit.edu	37	7	99655002	99655002	+	Missense_Mutation	SNP	C	C	T	rs373816425		TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr7:99655002C>T	ENST00000292450.4	+	2	537	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R125W|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R125W	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	125	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|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.R125W(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGATCTGGAGCGGGAACTGGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	7											32	31	32					7																	99655002		2203	4298	6501	99492938	SO:0001583	missense	7589			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.373C>T	7.37:g.99655002C>T	ENSP00000292450:p.Arg125Trp		99492938	A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606469	0.66445	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	4.77	2.8	0.32819	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.330791	0.17202	N	0.183093	T	0.29684	0.0741	H	0.94462	3.54	0.23886	N	0.996562	D;D	0.89917	0.995;1.0	P;D	0.72338	0.765;0.977	T	0.09185	-1.0686	10	0.87932	D	0	.	7.2757	0.26283	0.3375:0.4988:0.1637:0.0	.	125;125	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	W	125;125;125;125;100	ENSP00000441212:R125W;ENSP00000292450:R125W;ENSP00000390960:R125W;ENSP00000404207:R125W	ENSP00000292450:R125W	R	+	1	2	ZSCAN21	99492938	0.999000	0.42202	0.705000	0.30386	0.989000	0.77384	2.339000	0.43965	1.352000	0.45808	0.655000	0.94253	CGG		0.572	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		T	99655002	C	T	99655002	3	4	453	1	0	0	0	0	1	0	0	0	18233	759	27	1	375	1	ZSCAN21	7	99655002	Missense_Mutation	SNP	C	TCGA-61-2092-01A-01W-0722-08	17073144	99655002	59483661	9	24973											
CRB2	286204	broad.mit.edu	37	9	126133040	126133040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr9:126133040C>T	ENST00000373631.3	+	7	1709	c.1708C>T	c.(1708-1710)Cag>Tag	p.Q570*	CRB2_ENST00000373629.2_Nonsense_Mutation_p.Q238*|CRB2_ENST00000359999.3_Nonsense_Mutation_p.Q570*	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	570	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.Q570*(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTCCTCTGCCCAGCTGGGGGA	0.682																																																1	Substitution - Nonsense(1)	ovary(1)	9											49	50	50					9																	126133040		2203	4300	6503	125172861	SO:0001587	stop_gained	286204			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1708C>T	9.37:g.126133040C>T	ENSP00000362734:p.Gln570*		125172861	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Nonsense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063166	0.36373	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	.	.	.	4.94	1.78	0.24846	.	0.885835	0.09416	N	0.805063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	3.177	0.06572	0.1435:0.5656:0.1388:0.1521	.	.	.	.	X	570;570;238	.	ENSP00000353092:Q570X	Q	+	1	0	CRB2	125172861	0.005000	0.15991	0.014000	0.15608	0.043000	0.13939	0.217000	0.17603	0.459000	0.27016	0.448000	0.29417	CAG		0.682	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		T	126133040	C	T	126133040	4	4	453	1	0	0	0	0	0	1	0	0	3849	595	21	2	1734	2	CRB2	9	126133040	Nonsense_Mutation	SNP	C	TCGA-61-2092-01A-01W-0722-08		126133040	15080391	10	24974											
OR5P2	120065	broad.mit.edu	37	11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	rs569926953|rs147652902	byFrequency	TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	11						C	LYS/GLU	2,4206		0,2,2102	97	113	108		319	5.5	0.8	11	dbSNP_134	108	0,8584		0,0,4292	no	missense	OR5P2	NM_153444.1	56	0,2,6394	TT,TC,CC		0.0,0.0475,0.0156	probably-damaging	107/323	7818171	2,12790	2104	4292	6396	7774747	SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.319G>A	11.37:g.7818171C>T	ENSP00000331823:p.Glu107Lys		7774747	Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724582	0.48833	4.75E-4	0.0	ENSG00000183303	ENST00000329434	T	0.00414	7.52	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.087192	0.49916	D	0.000131	T	0.01835	0.0058	M	0.92219	3.285	0.36026	D	0.8391	D	0.76494	0.999	D	0.73380	0.98	T	0.33085	-0.9882	10	0.87932	D	0	-34.5014	16.9428	0.86222	0.0:1.0:0.0:0.0	.	107	Q8WZ92	OR5P2_HUMAN	K	107	ENSP00000331823:E107K	ENSP00000331823:E107K	E	-	1	0	OR5P2	7774747	0.025000	0.19082	0.822000	0.32727	0.009000	0.06853	1.607000	0.36836	2.868000	0.98415	0.555000	0.69702	GAA		0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		T	7818171	C	T	7818171	3	4	453	1	0	0	0	0	1	0	0	0	11178	893	31	1	653	1	OR5P2	11	7818171	Missense_Mutation	SNP	C	TCGA-61-2092-01A-01W-0722-08		7818171	127188345	11	24975											
DYRK2	8445	broad.mit.edu	37	12	68051680	68051680	+	Silent	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr12:68051680G>A	ENST00000344096.3	+	3	1406	c.993G>A	c.(991-993)tcG>tcA	p.S331S	DYRK2_ENST00000393555.3_Silent_p.S258S|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	331	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.S331S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TTGCCCACTCGATTCTGCAGT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	12											112	107	109					12																	68051680		2203	4300	6503	66337947	SO:0001819	synonymous_variant	8445			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.993G>A	12.37:g.68051680G>A			66337947	B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	CCDS8978.1																																																																																				0.448	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			A	68051680	G	A	68051680	2	1	453	1	0	0	0	0	0	0	0	1	4856	1045	37	1		1	DYRK2	12	68051680	Silent	SNP	G	TCGA-61-2092-01A-01W-0722-08		68051680	65800215	12	24976											
RASAL1	8437	broad.mit.edu	37	12	113568721	113568721	+	Silent	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr12:113568721G>A	ENST00000261729.5	-	3	406	c.91C>T	c.(91-93)Cta>Tta	p.L31L	RASAL1_ENST00000446861.3_Silent_p.L31L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Silent_p.L31L|RASAL1_ENST00000548055.1_Silent_p.L31L			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	31	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.L31L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ACTTTCACTAGGCAGTAGGGG	0.617																																																1	Substitution - coding silent(1)	ovary(1)	12											62	52	55					12																	113568721		2203	4300	6503	112053104	SO:0001819	synonymous_variant	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.91C>T	12.37:g.113568721G>A			112053104	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	CCDS9165.1																																																																																				0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113568721	G	A	113568721	2	1	453	1	0	0	0	0	0	0	0	1	13066	991	35	2		2	RASAL1	12	113568721	Silent	SNP	G	TCGA-61-2092-01A-01W-0722-08	45517041	113568721	20283174	13	24977											
PXN	5829	broad.mit.edu	37	12	120653416	120653416	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr12:120653416C>T	ENST00000228307.7	-	7	1021	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000536957.1_Missense_Mutation_p.G292S|PXN_ENST00000424649.2_Intron|PXN_ENST00000397506.3_Missense_Mutation_p.G58S|PXN_ENST00000267257.7_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000538144.1_Intron	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	294					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGGCCAGCCGGCCGCCCAG	0.617																																																0			12											32	40	37					12																	120653416		1566	3578	5144	119137799	SO:0001583	missense	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.880G>A	12.37:g.120653416C>T	ENSP00000228307:p.Gly294Ser		119137799	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	0.987	-0.695237	0.03303	.	.	ENSG00000089159	ENST00000228307;ENST00000536957;ENST00000397506	T;T;T	0.58060	0.88;0.89;0.36	4.24	0.156	0.14910	.	.	.	.	.	T	0.29061	0.0722	N	0.22421	0.69	0.09310	N	1	B;B	0.17667	0.023;0.001	B;B	0.10450	0.005;0.0	T	0.27706	-1.0066	9	0.02654	T	1	.	6.4322	0.21803	0.0:0.5578:0.0:0.4422	.	58;294	E7EMK8;P49023	.;PAXI_HUMAN	S	294;292;58	ENSP00000228307:G294S;ENSP00000443887:G292S;ENSP00000380643:G58S	ENSP00000228307:G294S	G	-	1	0	PXN	119137799	0.000000	0.05858	0.211000	0.23655	0.046000	0.14306	-1.295000	0.02764	0.125000	0.18397	0.453000	0.30009	GGC		0.617	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		T	120653416	C	T	120653416	3	4	453	1	0	0	0	0	1	0	0	0	12855	652	23	1	919	1	PXN	12	120653416	Missense_Mutation	SNP	C	TCGA-61-2092-01A-01W-0722-08	7084695	120653416	13198479	14	24978											
DYNC1H1	1778	broad.mit.edu	37	14	102446171	102446171	+	Missense_Mutation	SNP	A	A	G	rs138182529		TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr14:102446171A>G	ENST00000360184.4	+	4	798	c.634A>G	c.(634-636)Atg>Gtg	p.M212V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	212	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.M212V(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATTCATCCAATGATCACAAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	14						A	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	134	141	138		634	2.2	0	14	dbSNP_134	138	0,8600		0,0,4300	no	missense	DYNC1H1	NM_001376.4	21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	212/4647	102446171	1,13005	2203	4300	6503	101515924	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.634A>G	14.37:g.102446171A>G	ENSP00000348965:p.Met212Val		101515924	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.089363	0.00367	2.27E-4	0.0	ENSG00000197102	ENST00000360184	T	0.24350	1.86	4.68	2.21	0.28008	.	0.411167	0.28241	N	0.016079	T	0.06600	0.0169	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39643	-0.9604	10	0.07990	T	0.79	.	7.8062	0.29204	0.7862:0.1391:0.0747:0.0	.	212	Q14204	DYHC1_HUMAN	V	212	ENSP00000348965:M212V	ENSP00000348965:M212V	M	+	1	0	DYNC1H1	101515924	0.991000	0.36638	0.003000	0.11579	0.190000	0.23558	5.872000	0.69636	0.329000	0.23460	0.402000	0.26972	ATG		0.408	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102446171	A	G	102446171	3	3	453	1	0	0	0	0	1	0	0	0	4841	101	4	4	648	4	DYNC1H1	14	102446171	Missense_Mutation	SNP	A	TCGA-61-2092-01A-01W-0722-08		102446171	4903369	15	24979											
TRPM1	4308	broad.mit.edu	37	15	31318395	31318395	+	Silent	SNP	C	C	T			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr15:31318395C>T	ENST00000256552.6	-	27	3723	c.3576G>A	c.(3574-3576)aaG>aaA	p.K1192K	TRPM1_ENST00000397795.2_Silent_p.K1170K|TRPM1_ENST00000542188.1_Silent_p.K1209K|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.K1170K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCTCATCCTCCTTCTCCCGGA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	15											58	61	60					15																	31318395		2127	4242	6369	29105687	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3576G>A	15.37:g.31318395C>T			29105687		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.602	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31318395	C	T	31318395	2	4	453	1	0	0	0	0	0	0	0	1	16585	680	24	2		2	TRPM1	15	31318395	Silent	SNP	C	TCGA-61-2092-01A-01W-0722-08		31318395	71212997	16	24980											
GDE1	51573	broad.mit.edu	37	16	19533043	19533043	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr16:19533043G>C	ENST00000353258.3	-	1	424	c.244C>G	c.(244-246)Ctg>Gtg	p.L82V	CCP110_ENST00000396212.2_5'Flank|CCP110_ENST00000381396.5_5'Flank|CCP110_ENST00000396208.2_5'Flank	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	82	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)	p.L82V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						ATGGCCGCCAGCGTGTTCTCG	0.682																																																1	Substitution - Missense(1)	ovary(1)	16											14	21	19					16																	19533043		2171	4234	6405	19440544	SO:0001583	missense	51573				CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"membrane interacting protein of RGS16"	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.244C>G	16.37:g.19533043G>C	ENSP00000261386:p.Leu82Val		19440544	O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925139	0.52759	.	.	ENSG00000006007	ENST00000353258	T	0.37235	1.21	4.92	2.95	0.34219	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.166645	0.37809	N	0.001936	T	0.35799	0.0944	M	0.63208	1.945	0.40841	D	0.983676	B	0.25904	0.137	B	0.30716	0.119	T	0.27434	-1.0074	10	0.56958	D	0.05	-12.1227	9.3482	0.38122	0.1688:0.0:0.8312:0.0	.	82	Q9NZC3	GDE1_HUMAN	V	82	ENSP00000261386:L82V	ENSP00000261386:L82V	L	-	1	2	GDE1	19440544	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	1.800000	0.38833	0.778000	0.33520	0.555000	0.69702	CTG		0.682	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		C	19533043	G	C	19533043	3	2	453	1	0	0	0	0	1	0	0	0	6310	962	34	3	775	3	GDE1	16	19533043	Missense_Mutation	SNP	G	TCGA-61-2092-01A-01W-0722-08		19533043	70821710	17	24981											
TP53	7157	broad.mit.edu	37	17	7578226	7578226	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr17:7578226T>A	ENST00000269305.4	-	6	812	c.623A>T	c.(622-624)gAc>gTc	p.D208V	TP53_ENST00000455263.2_Missense_Mutation_p.D208V|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.D208V|TP53_ENST00000420246.2_Missense_Mutation_p.D208V|TP53_ENST00000359597.4_Missense_Mutation_p.D208V|TP53_ENST00000413465.2_Missense_Mutation_p.D208V	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	208	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D208V(14)|p.0?(8)|p.?(5)|p.D208G(3)|p.D207fs*6(2)|p.D208fs*1(1)|p.D207_R213delDDRNTFR(1)|p.D208fs*39(1)|p.D208fs*38(1)|p.D207_V216del10(1)|p.D208I(1)|p.E204_N210delEYLDDRN(1)|p.D208_V216delDRNTFRHSV(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)	AGTGTTTCTGTCATCCAAATA	0.532		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"	40	Substitution - Missense(18)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)	lung(6)|biliary_tract(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|ovary(3)|stomach(2)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|thyroid(1)|soft_tissue(1)|skin(1)|eye(1)	17											145	128	134					17																	7578226		2203	4300	6503	7518951	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.623A>T	17.37:g.7578226T>A	ENSP00000269305:p.Asp208Val		7518951	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	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846884	0.91277	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.37;-7.37;-7.37;-7.37;-7.37;-7.37;-7.37;-7.37	5.41	5.41	0.78517	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	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.994;0.999;0.996;0.995;0.996	D	0.96375	0.9277	10	0.87932	D	0	-22.6982	13.709	0.62656	0.0:0.0:0.0:1.0	.	169;208;208;115;208;208;208	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	208;208;208;208;208;208;197;115;76;115;76	ENSP00000410739:D208V;ENSP00000352610:D208V;ENSP00000269305:D208V;ENSP00000398846:D208V;ENSP00000391127:D208V;ENSP00000391478:D208V;ENSP00000425104:D76V;ENSP00000423862:D115V	ENSP00000269305:D208V	D	-	2	0	TP53	7518951	1.000000	0.71417	0.326000	0.25389	0.403000	0.30841	7.996000	0.88334	2.183000	0.69458	0.533000	0.62120	GAC		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578226	T	A	7578226	3	1	453	1	0	0	0	0	1	0	0	0	16381	1667	58	5	671	5	TP53	17	7578226	Missense_Mutation	SNP	T	TCGA-61-2092-01A-01W-0722-08		7578226	73616984	18	24982											
MIF4GD	57409	broad.mit.edu	37	17	73263913	73263913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr17:73263913G>A	ENST00000325102.8	-	4	386	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000245551.5_Nonsense_Mutation_p.Q122*|MIF4GD_ENST00000579119.1_Nonsense_Mutation_p.Q88*|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000577542.1_Nonsense_Mutation_p.Q129*|MIF4GD_ENST00000579297.1_Nonsense_Mutation_p.Q129*	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	88	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.Q122*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCCCGAGCCTGGTACTCCTGC	0.602																																																1	Substitution - Nonsense(1)	ovary(1)	17											56	59	58					17																	73263913		2203	4300	6503	70775508	SO:0001587	stop_gained	57409			CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.262C>T	17.37:g.73263913G>A	ENSP00000321625:p.Gln88*		70775508	B4DUM7|Q8N4Q5|Q9HBL5	Nonsense_Mutation	SNP	ENST00000325102.8	37	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	G	37	6.239694	0.97403	.	.	ENSG00000125457	ENST00000245551;ENST00000325102	.	.	.	5.75	4.77	0.60923	.	0.161466	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-6.8386	9.1374	0.36883	0.0:0.127:0.6003:0.2728	.	.	.	.	X	122;88	.	ENSP00000245551:Q122X	Q	-	1	0	MIF4GD	70775508	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.314000	0.59166	1.401000	0.46761	0.561000	0.74099	CAG		0.602	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679		A	73263913	G	A	73263913	4	1	453	1	0	0	0	0	0	1	0	0	9584	1357	47	2	418	2	MIF4GD	17	73263913	Nonsense_Mutation	SNP	G	TCGA-61-2092-01A-01W-0722-08	65685687	73263913	7931297	19	24983											
ZFP161	7541	broad.mit.edu	37	18	5291171	5291171	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr18:5291171G>A	ENST00000357006.4	-	4	1374	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	ZBTB14_ENST00000400143.3_Missense_Mutation_p.P346S	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	346					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P346S(1)									TTTAAGTCTGGGGCACGGATA	0.453																																																1	Substitution - Missense(1)	ovary(1)	18											161	155	157					18																	5291171		2203	4300	6503	5281171	SO:0001583	missense	7541			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12860	protein-coding gene	gene with protein product		602126	"zinc finger protein 161 homolog (mouse)", "zinc finger protein 161", "ZFP161 zinc finger protein"	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1036C>T	18.37:g.5291171G>A	ENSP00000349503:p.Pro346Ser		5281171	O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609490	0.28623	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.06768	3.26;3.26	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.08537	0.0212	N	0.01473	-0.845	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.40117	-0.9580	10	0.02654	T	1	-14.9158	20.053	0.97634	0.0:0.0:1.0:0.0	.	346	O43829	ZF161_HUMAN	S	346	ENSP00000349503:P346S;ENSP00000383009:P346S	ENSP00000349503:P346S	P	-	1	0	ZFP161	5281171	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.793000	0.99091	2.733000	0.93635	0.650000	0.86243	CCA		0.453	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		A	5291171	G	A	5291171	3	1	453	1	0	0	0	0	1	0	0	0	17640	1232	43	2	317	2	ZFP161	18	5291171	Missense_Mutation	SNP	G	TCGA-61-2092-01A-01W-0722-08		5291171	72786077	20	24984											
ANKRD29	147463	broad.mit.edu	37	18	21229074	21229074	+	Silent	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr18:21229074G>A	ENST00000592179.1	-	2	259	c.105C>T	c.(103-105)ggC>ggT	p.G35G	ANKRD29_ENST00000585908.2_Silent_p.G35G|ANKRD29_ENST00000322980.9_Silent_p.G35G|ANKRD29_ENST00000284207.7_Silent_p.G35G	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	35								p.G35G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGTCCACCCGGCCGCTGTTCA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	18											66	57	60					18																	21229074		2203	4300	6503	19483072	SO:0001819	synonymous_variant	147463			AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"Ankyrin repeat domain containing"	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.105C>T	18.37:g.21229074G>A			19483072	B2R972|Q6ZWE8|Q96LU9	Silent	SNP	ENST00000592179.1	37	CCDS11879.1																																																																																				0.567	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		A	21229074	G	A	21229074	2	1	453	1	0	0	0	0	0	0	0	1	657	1190	42	2		2	ANKRD29	18	21229074	Silent	SNP	G	TCGA-61-2092-01A-01W-0722-08	15937903	21229074	56848174	21	24985											
ZNF441	126068	broad.mit.edu	37	19	11892139	11892139	+	Silent	SNP	T	T	C			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr19:11892139T>C	ENST00000357901.4	+	4	1602	c.1500T>C	c.(1498-1500)gaT>gaC	p.D500D	ZNF441_ENST00000454339.2_Silent_p.D433D	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D433D(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACACTGGAGATGGACCTCATA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	19											92	92	92					19																	11892139		2203	4300	6503	11753139	SO:0001819	synonymous_variant	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1500T>C	19.37:g.11892139T>C			11753139		Silent	SNP	ENST00000357901.4	37	CCDS12266.2																																																																																				0.408	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		C	11892139	T	C	11892139	2	2	453	1	0	0	0	0	0	0	0	1	17914	1461	51	4		4	ZNF441	19	11892139	Silent	SNP	T	TCGA-61-2092-01A-01W-0722-08		11892139	47236844	22	24986											
ZNF30	90075	broad.mit.edu	37	19	35435239	35435239	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr19:35435239G>A	ENST00000601142.1	+	5	1606	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.E376K|ZNF30_ENST00000439785.1_Missense_Mutation_p.E458K|ZNF30_ENST00000303586.7_Missense_Mutation_p.E458K			P17039	ZNF30_HUMAN	zinc finger protein 30	457					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.E458K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GAAACCCTATGAGTGTAAGGA	0.443																																																1	Substitution - Missense(1)	ovary(1)	19											61	63	62					19																	35435239		2203	4299	6502	40127079	SO:0001583	missense	90075			X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1369G>A	19.37:g.35435239G>A	ENSP00000469954:p.Glu457Lys		40127079	A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	12.28	1.889141	0.33348	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.06608	3.28;3.28	2.2	-0.132	0.13489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	N	0.02225	-0.63	0.09310	N	1	P;P	0.35551	0.453;0.509	B;B	0.38954	0.286;0.201	T	0.46541	-0.9184	9	0.19590	T	0.45	.	5.023	0.14370	0.4892:0.0:0.5108:0.0	.	458;457	P17039-2;P17039	.;ZNF30_HUMAN	K	458;457;376;166	ENSP00000403441:E458K;ENSP00000416457:E376K	ENSP00000303889:E457K	E	+	1	0	ZNF30	40127079	0.000000	0.05858	0.007000	0.13788	0.569000	0.35902	-1.535000	0.02210	-0.094000	0.12374	-0.357000	0.07601	GAG		0.443	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		A	35435239	G	A	35435239	3	1	453	1	0	0	0	0	1	0	0	0	17830	1291	45	2	1386	2	ZNF30	19	35435239	Missense_Mutation	SNP	G	TCGA-61-2092-01A-01W-0722-08	23543100	35435239	23693744	23	24987											
EGLN2	112398	broad.mit.edu	37	19	41312493	41312493	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr19:41312493G>A	ENST00000593726.1	+	2	1905	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	EGLN2_ENST00000406058.2_Missense_Mutation_p.G293R|EGLN2_ENST00000303961.4_Missense_Mutation_p.G293R|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000594140.1_Missense_Mutation_p.G11R|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	293	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)	p.G293R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CAACGGGCTCGGGTACGTAAG	0.572											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	19											132	99	110					19																	41312493		2203	4300	6503	46004333	SO:0001583	missense	112398			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.877G>A	19.37:g.41312493G>A	ENSP00000469686:p.Gly293Arg	900	46004333	A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257603	0.80246	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.59364	0.27;0.27	5.0	5.0	0.66597	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	L	0.28649	0.875	0.80722	D	1	D	0.65815	0.995	P	0.53006	0.715	T	0.50651	-0.8803	10	0.22706	T	0.39	-21.7204	17.2313	0.86984	0.0:0.0:1.0:0.0	.	293	Q96KS0	EGLN2_HUMAN	R	293	ENSP00000307080:G293R;ENSP00000385253:G293R	ENSP00000307080:G293R	G	+	1	0	EGLN2	46004333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.307000	0.78920	2.585000	0.87301	0.655000	0.94253	GGG		0.572	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			A	41312493	G	A	41312493	3	1	453	1	0	0	0	0	1	0	0	0	4969	1116	39	1	883	1	EGLN2	19	41312493	Missense_Mutation	SNP	G	TCGA-61-2092-01A-01W-0722-08	5877254	41312493	17816490	24	24988											
LILRB5	10990	broad.mit.edu	37	19	54756852	54756852	+	Splice_Site	SNP	T	T	C			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chr19:54756852T>C	ENST00000316219.5	-	9	1462		c.e9-2		LILRB5_ENST00000345866.6_Splice_Site|LILRB5_ENST00000450632.1_Splice_Site|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Splice_Site	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCCCAGACCTTGAGCGTGAT	0.577																																																1	Unknown(1)	ovary(1)	19											155	94	115					19																	54756852		2203	4299	6502	59448664	SO:0001630	splice_region_variant	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1355-2A>G	19.37:g.54756852T>C			59448664	Q8N760	Splice_Site	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	T	4.664	0.123541	0.08931	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	.	.	.	2.59	1.57	0.23409	.	.	.	.	.	.	.	.	.	.	.	0.21325	N	0.999729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3575	0.11185	0.0:0.1645:0.0:0.8355	.	.	.	.	.	-1	.	.	.	-	.	.	LILRB5	59448664	0.006000	0.16342	0.023000	0.16930	0.003000	0.03518	0.470000	0.22084	0.411000	0.25702	-0.334000	0.08254	.		0.577	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		Intron	C	54756852	T	C	54756852	5	2	453	1	0	0	0	0	0	0	1	0	8794	1623	56	4	439	4	LILRB5	19	54756852	Splice_Site	SNP	T	TCGA-61-2092-01A-01W-0722-08	13444359	54756852	4372131	25	24989											
RPGR	6103	broad.mit.edu	37	X	38182664	38182664	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chrX:38182664C>A	ENST00000339363.3	-	2	309	c.142G>T	c.(142-144)Gct>Tct	p.A48S	RPGR_ENST00000378505.2_Missense_Mutation_p.A48S|RPGR_ENST00000342811.3_Missense_Mutation_p.A48S|RPGR_ENST00000318842.7_Missense_Mutation_p.A48S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.A48S|RPGR_ENST00000338898.3_Missense_Mutation_p.A48S			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	48					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.A48S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTAACAACAGCAGAATGTTCA	0.313																																																1	Substitution - Missense(1)	ovary(1)	X											51	44	46					X																	38182664		2202	4299	6501	38067608	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.142G>T	X.37:g.38182664C>A	ENSP00000343671:p.Ala48Ser		38067608	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	C	18.13	3.556014	0.65425	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.6	5.6	0.85130	.	0.000000	0.85682	U	0.000000	D	0.88138	0.6356	M	0.82193	2.58	0.41890	D	0.990364	D;D	0.56035	0.974;0.966	P;P	0.58577	0.841;0.833	D	0.88832	0.3306	10	0.46703	T	0.11	.	13.9031	0.63817	0.1527:0.8472:0.0:0.0	.	48;48	E9PE28;Q92834-2	.;.	S	48	ENSP00000343671:A48S;ENSP00000308783:A48S;ENSP00000340208:A48S;ENSP00000322219:A48S;ENSP00000339531:A48S;ENSP00000367766:A48S	ENSP00000308783:A48S	A	-	1	0	RPGR	38067608	1.000000	0.71417	0.999000	0.59377	0.363000	0.29612	3.620000	0.54203	2.342000	0.79632	0.513000	0.50165	GCT		0.313	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		A	38182664	C	A	38182664	3	1	453	1	0	0	0	0	1	0	0	0	13551	710	25	3	3931	3	RPGR	23	38182664	Missense_Mutation	SNP	C	TCGA-61-2092-01A-01W-0722-08		38182664	117087896	26	24990											
CXCR3	2833	broad.mit.edu	37	X	70836822	70836822	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2092-01A-01W-0722-08	TCGA-61-2092-11A-01W-0722-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	65678d80-9174-45e7-970b-3d6c79b9a3da	bf42c236-3faf-484b-81da-1ba10b85b835	g.chrX:70836822C>T	ENST00000373693.3	-	2	567	c.500G>A	c.(499-501)cGc>cAc	p.R167H	CXCR3_ENST00000373691.4_Missense_Mutation_p.R214H	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	167					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.R167H(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GAGGGTCAcgcgggccggggg	0.652																																																1	Substitution - Missense(1)	ovary(1)	X											22	26	24					X																	70836822		2187	4288	6475	70753547	SO:0001583	missense	2833			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.500G>A	X.37:g.70836822C>T	ENSP00000362797:p.Arg167His		70753547	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381749	0.01204	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	T;T	0.39592	1.07;1.07	5.34	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.387744	0.24282	N	0.039881	T	0.23249	0.0562	L	0.31526	0.94	0.09310	N	1	B;P	0.34837	0.232;0.472	B;B	0.25140	0.034;0.058	T	0.11616	-1.0580	10	0.16896	T	0.51	.	7.0622	0.25131	0.0:0.7997:0.0:0.2003	.	214;167	P49682-2;P49682	.;CXCR3_HUMAN	H	214;167;167	ENSP00000362795:R214H;ENSP00000362797:R167H	ENSP00000362791:R167H	R	-	2	0	CXCR3	70753547	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	-0.306000	0.08178	1.237000	0.43756	-0.276000	0.10085	CGC		0.652	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			T	70836822	C	T	70836822	3	4	453	1	0	0	0	0	1	0	0	0	4092	768	27	1	610	1	CXCR3	23	70836822	Missense_Mutation	SNP	C	TCGA-61-2092-01A-01W-0722-08	32654158	70836822	84433738	27	24991											
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2094-01A-01W-0722-08	TCGA-61-2094-11A-01W-0722-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	bb0f300c-a400-44e8-95c7-d3737c276267	29d55e84-f5f5-42fb-9fae-0f52a864a037	g.chr17:7578542G>C	ENST00000269305.4	-	5	577	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	TP53_ENST00000455263.2_Missense_Mutation_p.L130V|TP53_ENST00000359597.4_Missense_Mutation_p.L130V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.L130V|TP53_ENST00000413465.2_Missense_Mutation_p.L130V|TP53_ENST00000445888.2_Missense_Mutation_p.L130V	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	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(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)	ATCTTGTTGAGGGCAGGGGAG	0.552		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"	65	Substitution - Missense(30)|Deletion - In frame(14)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)	large_intestine(11)|breast(9)|ovary(6)|upper_aerodigestive_tract(5)|lung(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|prostate(4)|bone(4)|urinary_tract(3)|oesophagus(3)|adrenal_gland(2)|stomach(2)|biliary_tract(1)|skin(1)|liver(1)	17											45	46	45					17																	7578542		2203	4300	6503	7519267	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.388C>G	17.37:g.7578542G>C	ENSP00000269305:p.Leu130Val		7519267	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	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640631	0.67244	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.48	5.48	0.80851	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	0.99869	0.9938	M	0.86953	2.85	0.58432	D	0.999992	D;D;D;P;D;D;D	0.76494	0.996;0.998;0.995;0.924;0.998;0.997;0.999	P;D;D;B;D;D;D	0.91635	0.899;0.999;0.98;0.388;0.999;0.999;0.989	D	0.96621	0.9459	10	0.87932	D	0	-29.0594	17.2272	0.86973	0.0:0.0:1.0:0.0	.	91;130;130;37;130;130;130	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	130;130;130;130;130;130;119;37;37;130	ENSP00000410739:L130V;ENSP00000352610:L130V;ENSP00000269305:L130V;ENSP00000398846:L130V;ENSP00000391127:L130V;ENSP00000391478:L130V;ENSP00000423862:L37V;ENSP00000424104:L130V	ENSP00000269305:L130V	L	-	1	0	TP53	7519267	1.000000	0.71417	0.930000	0.37139	0.764000	0.43329	5.638000	0.67861	2.733000	0.93635	0.655000	0.94253	CTC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7578542	G	C	7578542	3	2	454	1	0	0	0	0	1	0	0	0	16381	1000	35	3	910	3	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-61-2094-01A-01W-0722-08		7578542	73616668	1	24992											
VPS13D	55187	broad.mit.edu	37	1	12475241	12475241	+	Silent	SNP	C	C	T			TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr1:12475241C>T	ENST00000358136.3	+	64	12262	c.12132C>T	c.(12130-12132)ttC>ttT	p.F4044F	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.F4019F|VPS13D_ENST00000543766.1_Silent_p.F42F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.F4044F(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAAGGAGTTCATCATCAATG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	1											138	122	127					1																	12475241		2203	4300	6503	12397828	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12132C>T	1.37:g.12475241C>T			12397828		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291938	0.23564	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.58	2.3	0.28687	.	.	.	.	.	T	0.59797	0.2220	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55604	-0.8115	4	.	.	.	.	10.7744	0.46342	0.0:0.6637:0.0:0.3363	.	.	.	.	L	2866	.	.	S	+	2	0	VPS13D	12397828	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.528000	0.23002	0.685000	0.31468	0.650000	0.86243	TCA		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12475241	C	T	12475241	2	4	455	1	0	0	0	0	0	0	0	1	17192	825	29	2		2	VPS13D	1	12475241	Silent	SNP	C	TCGA-61-2095-01A-01W-0722-08		12475241	236775380	1	24993											
GRHL3	57822	broad.mit.edu	37	1	24664220	24664220	+	Missense_Mutation	SNP	G	G	A	rs145470039	byFrequency	TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr1:24664220G>A	ENST00000350501.5	+	6	908	c.781G>A	c.(781-783)Gtc>Atc	p.V261I	GRHL3_ENST00000342072.4_Missense_Mutation_p.V168I|GRHL3_ENST00000236255.4_Missense_Mutation_p.V266I|GRHL3_ENST00000361548.4_Missense_Mutation_p.V261I|GRHL3_ENST00000356046.2_Missense_Mutation_p.V215I	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	261					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V266I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTTCTACCCCGTCACCCTGCG	0.587													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		20270	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1						G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	16,4390	23.3+/-48.9	0,16,2187	98	84	89		781,781,796,643	4.1	0.8	1	dbSNP_134	89	0,8600		0,0,4300	yes	missense,missense,missense,missense	GRHL3	NM_198174.2,NM_198173.2,NM_021180.3,NM_001195010.1	29,29,29,29	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	benign,benign,benign,benign	261/627,261/603,266/608,215/557	24664220	16,12990	2203	4300	6503	24536807	SO:0001583	missense	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.781G>A	1.37:g.24664220G>A	ENSP00000288955:p.Val261Ile		24536807	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	4.028	0.002793	0.07866	0.003631	0.0	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.97	4.12	0.48240	.	0.237878	0.42964	N	0.000623	T	0.03390	0.0098	N	0.02103	-0.685	0.32683	N	0.515251	B;B;B	0.18310	0.013;0.003;0.027	B;B;B	0.14578	0.008;0.006;0.011	T	0.30937	-0.9961	10	0.02654	T	1	-28.162	9.5371	0.39229	0.2343:0.0:0.7657:0.0	.	215;266;261	A2A297;Q8TE85-2;G3XAF0	.;.;.	I	261;168;261;215;266	ENSP00000354943:V261I;ENSP00000340543:V168I;ENSP00000288955:V261I;ENSP00000348333:V215I;ENSP00000236255:V266I	ENSP00000236255:V266I	V	+	1	0	GRHL3	24536807	0.796000	0.28864	0.822000	0.32727	0.992000	0.81027	1.375000	0.34295	0.868000	0.35678	0.655000	0.94253	GTC		0.587	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		A	24664220	G	A	24664220	3	1	455	1	0	0	0	0	1	0	0	0	6765	1145	40	1	839	1	GRHL3	1	24664220	Missense_Mutation	SNP	G	TCGA-61-2095-01A-01W-0722-08	12188979	24664220	224586401	2	24994											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	1016	Substitution - Missense(1016)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	1											180	156	164					1																	115256529		2203	4300	6503	115058052	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg		115058052	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		C	115256529	T	C	115256529	3	2	455	1	0	0	0	0	1	0	0	0	10640	1812	63	4	399	4	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-61-2095-01A-01W-0722-08	90592309	115256529	133994092	3	24995											
CNGA3	1261	broad.mit.edu	37	2	99012779	99012779	+	Silent	SNP	C	C	T			TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr2:99012779C>T	ENST00000272602.2	+	7	1185	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	CNGA3_ENST00000436404.2_Silent_p.V364V|CNGA3_ENST00000409937.1_Silent_p.V386V|CNGA3_ENST00000393504.1_Silent_p.V382V			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	382					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.V382V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCTTTGTGGTCGTAGACTTCT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	2											77	78	78					2																	99012779		2203	4300	6503	98379211	SO:0001819	synonymous_variant	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1146C>T	2.37:g.99012779C>T			98379211	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	CCDS2034.1																																																																																				0.512	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		T	99012779	C	T	99012779	2	4	455	1	0	0	0	0	0	0	0	1	3598	871	31	1		1	CNGA3	2	99012779	Silent	SNP	C	TCGA-61-2095-01A-01W-0722-08		99012779	144186594	4	24996											
TTN	7273	broad.mit.edu	37	2	179432535	179432535	+	Silent	SNP	C	C	T			TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr2:179432535C>T	ENST00000591111.1	-	276	73625	c.73401G>A	c.(73399-73401)caG>caA	p.Q24467Q	TTN_ENST00000342992.6_Silent_p.Q23540Q|TTN_ENST00000460472.2_Silent_p.Q17043Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q17235Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.Q26108Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Q17168Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24467	Fibronectin type-III 78. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q23538Q(1)|p.Q17043Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTGGTCCACTGTAAAGTGA	0.418																																																2	Substitution - coding silent(2)	ovary(2)	2											141	133	135					2																	179432535		1895	4111	6006	179140781	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73401G>A	2.37:g.179432535C>T			179140781	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179432535	C	T	179432535	2	4	455	1	0	0	0	0	0	0	0	1	16735	564	20	2		2	TTN	2	179432535	Silent	SNP	C	TCGA-61-2095-01A-01W-0722-08	80419756	179432535	63766838	5	24997											
UNC5C	8633	broad.mit.edu	37	4	96106271	96106272	+	Frame_Shift_Ins	INS	-	-	T			TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	-	-	T	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr4:96106271_96106272insT	ENST00000453304.1	-	13	2560_2561	c.2212_2213insA	c.(2212-2214)accfs	p.T738fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	738					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.T738fs*23(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAGGTTGTGGGTGCTGCCTTTA	0.46																																																1	Insertion - Frameshift(1)	ovary(1)	4																																								96325295	SO:0001589	frameshift_variant	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2213dupA	4.37:g.96106272_96106272dupT	ENSP00000406022:p.Thr738fs		96325294	Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	CCDS3643.1																																																																																				0.46	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		T	96106272	-	T	96106271	7	5	455	1	0	1	1	0	0	0	0	0	16993	1261	44	0	598	0	UNC5C	4	96106271	Frame_Shift_Ins	INS	-	TCGA-61-2095-01A-01W-0722-08		96106271	95048005	6	24998											
AKNA	80709	broad.mit.edu	37	9	117139344	117139344	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr9:117139344C>T	ENST00000307564.4	-	3	904	c.743G>A	c.(742-744)gGc>gAc	p.G248D	AKNA_ENST00000374088.3_Missense_Mutation_p.G248D|AKNA_ENST00000374075.5_Missense_Mutation_p.G167D|AKNA_ENST00000223791.3_5'Flank|AKNA_ENST00000312033.3_Missense_Mutation_p.G248D	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	248					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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 positive regulation of transcription (GO:0001077)	p.G248D(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCCAGTTCTGCCATCTGGGCT	0.622																																																1	Substitution - Missense(1)	ovary(1)	9											43	46	45					9																	117139344		2203	4300	6503	116179165	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.743G>A	9.37:g.117139344C>T	ENSP00000303769:p.Gly248Asp		116179165	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.320893	0.00232	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.20598	3.27;3.27;3.25;2.06	4.49	-1.08	0.09936	.	1.083490	0.07195	N	0.856398	T	0.05135	0.0137	N	0.01352	-0.895	0.33386	D	0.575441	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.47381	-0.9122	10	0.10377	T	0.69	-1.598	1.078	0.01637	0.1515:0.1888:0.156:0.5037	.	248;248;167	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	D	248;248;167;248;248	ENSP00000303769:G248D;ENSP00000363201:G248D;ENSP00000363188:G167D;ENSP00000309222:G248D	ENSP00000303769:G248D	G	-	2	0	AKNA	116179165	0.000000	0.05858	0.016000	0.15963	0.149000	0.21700	-0.020000	0.12525	-0.125000	0.11703	-0.605000	0.04089	GGC		0.622	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		T	117139344	C	T	117139344	3	4	455	1	0	0	0	0	1	0	0	0	463	739	26	2	3656	2	AKNA	9	117139344	Missense_Mutation	SNP	C	TCGA-61-2095-01A-01W-0722-08		117139344	24074087	7	24999											
CDK5RAP2	55755	broad.mit.edu	37	9	123199658	123199658	+	Silent	SNP	C	C	G			TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr9:123199658C>G	ENST00000349780.4	-	25	4049	c.3870G>C	c.(3868-3870)gtG>gtC	p.V1290V	CDK5RAP2_ENST00000360190.4_Silent_p.V1290V|CDK5RAP2_ENST00000359309.3_Silent_p.V1249V|CDK5RAP2_ENST00000360822.3_Silent_p.V1258V	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1290					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.V1290V(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CACAGTAATCCACATCACTGG	0.498																																																1	Substitution - coding silent(1)	ovary(1)	9											158	120	133					9																	123199658		2203	4300	6503	122239479	SO:0001819	synonymous_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3870G>C	9.37:g.123199658C>G			122239479	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	CCDS6823.1																																																																																				0.498	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		G	123199658	C	G	123199658	2	3	455	1	0	0	0	0	0	0	0	1	3146	581	21	3		3	CDK5RAP2	9	123199658	Silent	SNP	C	TCGA-61-2095-01A-01W-0722-08	6060314	123199658	18013773	8	25000											
MCM10	55388	broad.mit.edu	37	10	13228183	13228183	+	Missense_Mutation	SNP	A	A	T	rs200097291		TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr10:13228183A>T	ENST00000484800.2	+	9	1224	c.1121A>T	c.(1120-1122)cAt>cTt	p.H374L	MCM10_ENST00000378694.1_Missense_Mutation_p.H373L|MCM10_ENST00000378714.3_Missense_Mutation_p.H373L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	374	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.H374L(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCTATCGATCATCCTCAGAAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	10											189	178	182					10																	13228183		2203	4300	6503	13268189	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1121A>T	10.37:g.13228183A>T	ENSP00000418268:p.His374Leu		13268189	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972596	0.92919	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.15372	2.43;2.43;2.43	5.78	5.78	0.91487	.	0.089542	0.85682	D	0.000000	T	0.40815	0.1132	M	0.76574	2.34	0.58432	D	0.99999	D;P;P	0.76494	0.999;0.877;0.804	D;P;B	0.65987	0.94;0.548;0.346	T	0.13926	-1.0491	10	0.33141	T	0.24	-17.9507	16.1067	0.81230	1.0:0.0:0.0:0.0	.	373;373;374	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	L	373;374;374;373	ENSP00000367986:H373L;ENSP00000418268:H374L;ENSP00000367966:H373L	ENSP00000354945:H374L	H	+	2	0	MCM10	13268189	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.050000	0.93843	2.201000	0.70794	0.459000	0.35465	CAT		0.428	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		T	13228183	A	T	13228183	3	4	455	1	0	0	0	0	1	0	0	0	9385	217	8	5	1151	5	MCM10	10	13228183	Missense_Mutation	SNP	A	TCGA-61-2095-01A-01W-0722-08		13228183	122306564	9	25001											
SLC22A18	5002	broad.mit.edu	37	11	2946407	2946407	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr11:2946407A>T	ENST00000380574.1	+	11	1686	c.1255A>T	c.(1255-1257)Agg>Tgg	p.R419W	SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000347936.2_Missense_Mutation_p.R419W|SLC22A18_ENST00000312221.5_Missense_Mutation_p.R419W|SLC22A18_ENST00000449793.2_Missense_Mutation_p.R321W			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	419					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)	p.R419W(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TATGCCCCAGAGGAAGGACAA	0.582																																																1	Substitution - Missense(1)	ovary(1)	11											73	63	66					11																	2946407		2202	4299	6501	2902983	SO:0001583	missense	5002			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"Solute carriers"	10964	protein-coding gene	gene with protein product		602631	"solute carrier family 22 (organic cation transporter), member 1-like"	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.1255A>T	11.37:g.2946407A>T	ENSP00000369948:p.Arg419Trp		2902983	O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225576	0.58668	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	4.65	-0.429	0.12303	Major facilitator superfamily domain, general substrate transporter (1);	0.927475	0.09025	N	0.859547	D	0.82277	0.5002	L	0.29908	0.895	0.09310	N	1	D;D	0.63880	0.993;0.993	D;P	0.65573	0.936;0.75	T	0.69339	-0.5171	10	0.87932	D	0	-11.6071	4.8757	0.13655	0.6114:0.1478:0.2408:0.0	.	321;419	E9PRM7;Q96BI1	.;S22AI_HUMAN	W	419;419;321;419	ENSP00000307859:R419W;ENSP00000311139:R419W;ENSP00000392072:R321W;ENSP00000369948:R419W	ENSP00000311139:R419W	R	+	1	2	SLC22A18	2902983	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	1.040000	0.30278	-0.104000	0.12154	-0.375000	0.07067	AGG		0.582	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233		T	2946407	A	T	2946407	3	4	455	1	0	0	0	0	1	0	0	0	14452	295	11	5	1293	5	SLC22A18	11	2946407	Missense_Mutation	SNP	A	TCGA-61-2095-01A-01W-0722-08		2946407	132060109	10	25002											
KIAA1012	22878	broad.mit.edu	37	18	29493393	29493393	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chr18:29493393G>A	ENST00000283351.4	-	5	1045	c.710C>T	c.(709-711)tCa>tTa	p.S237L	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S183L|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.S237L	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	237					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.S237L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGTTCATCTGATGCTCGATT	0.318																																																1	Substitution - Missense(1)	ovary(1)	18											91	92	92					18																	29493393		2203	4300	6503	27747391	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.710C>T	18.37:g.29493393G>A	ENSP00000283351:p.Ser237Leu		27747391	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408947	0.42715	.	.	ENSG00000153339	ENST00000283351	T	0.18338	2.22	5.65	5.65	0.86999	.	0.425407	0.24200	N	0.040622	T	0.19248	0.0462	L	0.31926	0.97	0.32250	N	0.571507	B;B	0.26318	0.093;0.146	B;B	0.33121	0.077;0.158	T	0.06862	-1.0803	10	0.28530	T	0.3	.	20.0845	0.97795	0.0:0.0:1.0:0.0	.	237;237	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	L	237	ENSP00000283351:S237L	ENSP00000283351:S237L	S	-	2	0	TRAPPC8	27747391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.183000	0.58317	2.821000	0.97095	0.650000	0.86243	TCA		0.318	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		A	29493393	G	A	29493393	3	1	455	1	0	0	0	0	1	0	0	0	8204	1294	45	2	3697	2	KIAA1012	18	29493393	Missense_Mutation	SNP	G	TCGA-61-2095-01A-01W-0722-08		29493393	48583855	11	25003											
EIF1AX	1964	broad.mit.edu	37	X	20156742	20156742	+	Splice_Site	SNP	T	T	G			TCGA-61-2095-01A-01W-0722-08	TCGA-61-2095-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	7ea3a1b4-6ff1-45be-ab13-dd6e8a0cd514	ef06ee0a-f02a-4d61-a0bc-b6d85c7514ac	g.chrX:20156742T>G	ENST00000379607.5	-	2	220		c.e2-2		EIF1AX_ENST00000379593.1_Intron|snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.?(1)		endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCCTTTACCTGATGGTTTAA	0.303																																																1	Unknown(1)	ovary(1)	X											124	116	118					X																	20156742		2203	4300	6503	20066663	SO:0001630	splice_region_variant	1964			L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.17-2A>C	X.37:g.20156742T>G			20066663	B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	SNP	ENST00000379607.5	37	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643786	0.67244	.	.	ENSG00000173674	ENST00000379607	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8225	0.63331	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF1AX	20066663	1.000000	0.71417	0.984000	0.44739	0.900000	0.52787	7.441000	0.80485	1.708000	0.51301	0.486000	0.48141	.		0.303	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Intron	G	20156742	T	G	20156742	5	3	455	1	0	0	0	0	0	0	1	0	4992	1594	55	5	443	5	EIF1AX	23	20156742	Splice_Site	SNP	T	TCGA-61-2095-01A-01W-0722-08		20156742	135113818	12	25004											
COL5A2	1290	broad.mit.edu	37	2	189904245	189904245	+	Silent	SNP	A	A	C			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr2:189904245A>C	ENST00000374866.3	-	51	3952	c.3678T>G	c.(3676-3678)ccT>ccG	p.P1226P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1226					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1226P(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TAAGGTGGCCAGGGGGACCCG	0.498																																																1	Substitution - coding silent(1)	ovary(1)	2											26	27	27					2																	189904245		2203	4299	6502	189612490	SO:0001819	synonymous_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3678T>G	2.37:g.189904245A>C			189612490	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	CCDS33350.1																																																																																				0.498	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		C	189904245	A	C	189904245	2	2	456	1	0	0	0	0	0	0	0	1	3697	175	7	5		5	COL5A2	2	189904245	Silent	SNP	A	TCGA-61-2097-01A-02W-0722-08		189904245	53295128	1	25005											
ACSL3	2181	broad.mit.edu	37	2	223786007	223786007	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr2:223786007C>A	ENST00000357430.3	+	8	1346	c.815C>A	c.(814-816)cCt>cAt	p.P272H	ACSL3_ENST00000392066.3_Missense_Mutation_p.P272H|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	272					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.P272H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GAAAACCAACCTCATAGCAAA	0.353			T	ETV1	prostate																																		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	1	Substitution - Missense(1)	ovary(1)	2											141	136	138					2																	223786007		2203	4300	6503	223494251	SO:0001583	missense	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.815C>A	2.37:g.223786007C>A	ENSP00000350012:p.Pro272His		223494251	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262543	0.23051	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115;ENST00000421680	T;T;T;T	0.76316	2.73;2.73;0.64;-1.01	5.03	2.23	0.28157	AMP-dependent synthetase/ligase (1);	0.748735	0.13345	N	0.394885	T	0.80732	0.4679	M	0.74647	2.275	0.09310	N	1	B	0.29552	0.248	P	0.44477	0.451	T	0.74456	-0.3659	10	0.87932	D	0	-0.53	5.1274	0.14892	0.1828:0.5753:0.0:0.2419	.	272	O95573	ACSL3_HUMAN	H	272;272;120;42	ENSP00000350012:P272H;ENSP00000375918:P272H;ENSP00000441643:P120H;ENSP00000404182:P42H	ENSP00000350012:P272H	P	+	2	0	ACSL3	223494251	0.373000	0.25073	0.089000	0.20774	0.643000	0.38383	0.930000	0.28858	0.528000	0.28580	0.591000	0.81541	CCT		0.353	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		A	223786007	C	A	223786007	3	1	456	1	0	0	0	0	1	0	0	0	178	681	24	3	833	3	ACSL3	2	223786007	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	33881762	223786007	19413366	2	25006											
NUP210	23225	broad.mit.edu	37	3	13360796	13360796	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr3:13360796C>A	ENST00000254508.5	-	38	5495	c.5413G>T	c.(5413-5415)Gat>Tat	p.D1805Y		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1805					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.D1805Y(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGTAGGAATCCAGGAAGTGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	3											68	57	61					3																	13360796		2203	4300	6503	13335796	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5413G>T	3.37:g.13360796C>A	ENSP00000254508:p.Asp1805Tyr		13335796	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137479	0.37728	.	.	ENSG00000132182	ENST00000254508	T	0.05382	3.45	5.11	5.11	0.69529	.	0.122014	0.53938	D	0.000045	T	0.21761	0.0524	M	0.70595	2.14	0.54753	D	0.999984	D	0.69078	0.997	P	0.62014	0.897	T	0.00235	-1.1892	10	0.54805	T	0.06	.	15.6456	0.77046	0.0:0.8628:0.1372:0.0	.	1805	Q8TEM1	PO210_HUMAN	Y	1805	ENSP00000254508:D1805Y	ENSP00000254508:D1805Y	D	-	1	0	NUP210	13335796	1.000000	0.71417	0.983000	0.44433	0.015000	0.08874	2.975000	0.49281	2.378000	0.81104	0.563000	0.77884	GAT		0.557	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13360796	C	A	13360796	3	1	456	1	0	0	0	0	1	0	0	0	10760	855	30	3	262	3	NUP210	3	13360796	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08		13360796	184661634	3	25007											
GRID2	2895	broad.mit.edu	37	4	93511305	93511305	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr4:93511305A>C	ENST00000282020.4	+	2	370	c.112A>C	c.(112-114)Aaa>Caa	p.K38Q	GRID2_ENST00000510992.1_Missense_Mutation_p.K38Q|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	38					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.K38Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGAATCTGCCAAAAAGGATGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	4											102	99	100					4																	93511305		2203	4300	6503	93730328	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.112A>C	4.37:g.93511305A>C	ENSP00000282020:p.Lys38Gln		93730328	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631778	0.46944	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.85861	-2.04;-2.04	5.83	5.83	0.93111	.	0.741961	0.12347	N	0.476925	T	0.78033	0.4220	N	0.19112	0.55	0.23834	N	0.996715	B;B	0.33694	0.421;0.421	B;B	0.33042	0.157;0.157	T	0.68345	-0.5433	10	0.33940	T	0.23	.	16.194	0.82011	1.0:0.0:0.0:0.0	.	38;38	E9PH24;O43424	.;GRID2_HUMAN	Q	38	ENSP00000282020:K38Q;ENSP00000421257:K38Q	ENSP00000282020:K38Q	K	+	1	0	GRID2	93730328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.863000	0.69568	2.225000	0.72522	0.460000	0.39030	AAA		0.373	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			C	93511305	A	C	93511305	3	2	456	1	0	0	0	0	1	0	0	0	6772	131	5	5	118	5	GRID2	4	93511305	Missense_Mutation	SNP	A	TCGA-61-2097-01A-02W-0722-08		93511305	97642971	4	25008											
CDH18	1016	broad.mit.edu	37	5	19520790	19520790	+	Silent	SNP	T	T	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr5:19520790T>A	ENST00000507958.1	-	12	2478	c.1488A>T	c.(1486-1488)gtA>gtT	p.V496V	CDH18_ENST00000506372.1_Silent_p.V496V|CDH18_ENST00000511273.1_Silent_p.V496V|CDH18_ENST00000382275.1_Silent_p.V496V|CDH18_ENST00000502796.1_Silent_p.V496V|CDH18_ENST00000274170.4_Silent_p.V496V			Q13634	CAD18_HUMAN	cadherin 18, type 2	496	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V496V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATTTTCACATACAATAATAT	0.378																																																1	Substitution - coding silent(1)	ovary(1)	5											112	115	114					5																	19520790		2203	4300	6503	19556547	SO:0001819	synonymous_variant	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1488A>T	5.37:g.19520790T>A			19556547	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.378	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19520790	T	A	19520790	2	1	456	1	0	0	0	0	0	0	0	1	3103	1393	49	5		5	CDH18	5	19520790	Silent	SNP	T	TCGA-61-2097-01A-02W-0722-08		19520790	161394470	5	25009											
DMGDH	29958	broad.mit.edu	37	5	78322315	78322315	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr5:78322315C>G	ENST00000255189.3	-	13	2150	c.2122G>C	c.(2122-2124)Gac>Cac	p.D708H	DMGDH_ENST00000380311.4_Missense_Mutation_p.D507H|DMGDH_ENST00000540686.1_Missense_Mutation_p.D328H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	708					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.D708H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAAAATTGTCGATTCCCTCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	5											117	106	110					5																	78322315		2203	4300	6503	78358071	SO:0001583	missense	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2122G>C	5.37:g.78322315C>G	ENSP00000255189:p.Asp708His		78358071	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493732	0.84962	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.32	5.32	0.75619	Glycine cleavage T-protein, N-terminal (1);	0.186054	0.56097	D	0.000033	T	0.80221	0.4583	L	0.34521	1.04	0.54753	D	0.999982	D;D;B;B	0.69078	0.997;0.975;0.018;0.009	D;P;B;B	0.66979	0.948;0.808;0.005;0.008	T	0.80020	-0.1557	10	0.44086	T	0.13	.	18.9892	0.92784	0.0:1.0:0.0:0.0	.	328;507;558;708	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	H	708;547;507;328;558	ENSP00000255189:D708H;ENSP00000430972:D547H;ENSP00000369667:D507H;ENSP00000439478:D328H	ENSP00000255189:D708H	D	-	1	0	DMGDH	78358071	1.000000	0.71417	0.970000	0.41538	0.876000	0.50452	5.924000	0.70054	2.500000	0.84329	0.561000	0.74099	GAC		0.463	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		G	78322315	C	G	78322315	3	3	456	1	0	0	0	0	1	0	0	0	4581	884	31	3	494	3	DMGDH	5	78322315	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	58801525	78322315	102592945	6	25010											
PPIC	5480	broad.mit.edu	37	5	122361523	122361523	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr5:122361523A>C	ENST00000306442.4	-	4	581	c.466T>G	c.(466-468)Ttg>Gtg	p.L156V		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	156	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.L156V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TTGCCGTCCAACCAGGTGGGC	0.438																																					Ovarian(99;690 1502 20765 45543 49568)											1	Substitution - Missense(1)	ovary(1)	5											86	73	77					5																	122361523		2203	4300	6503	122389422	SO:0001583	missense	5480			S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.466T>G	5.37:g.122361523A>C	ENSP00000303057:p.Leu156Val		122389422	A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003051	0.74932	.	.	ENSG00000168938	ENST00000306442	T	0.35605	1.3	5.65	-5.67	0.02444	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	H	0.96489	3.83	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.76647	-0.2882	10	0.87932	D	0	.	15.9654	0.79966	0.4005:0.0:0.5995:0.0	.	156	P45877	PPIC_HUMAN	V	156	ENSP00000303057:L156V	ENSP00000303057:L156V	L	-	1	2	PPIC	122389422	0.597000	0.26874	0.835000	0.33067	0.988000	0.76386	-0.081000	0.11321	-1.275000	0.02417	-0.256000	0.11100	TTG		0.438	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		C	122361523	A	C	122361523	3	2	456	1	0	0	0	0	1	0	0	0	12323	40	2	5	180	5	PPIC	5	122361523	Missense_Mutation	SNP	A	TCGA-61-2097-01A-02W-0722-08	44039208	122361523	58553737	7	25011											
ADAMTS19	171019	broad.mit.edu	37	5	129070664	129070664	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr5:129070664A>T	ENST00000274487.4	+	22	3479	c.3334A>T	c.(3334-3336)Atc>Ttc	p.I1112F	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1112	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I1112F(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTCCCGTGTAATCCAATGCAT	0.378																																																1	Substitution - Missense(1)	ovary(1)	5											102	101	101					5																	129070664		2203	4300	6503	129098563	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3334A>T	5.37:g.129070664A>T	ENSP00000274487:p.Ile1112Phe		129098563		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.621184	0.66787	.	.	ENSG00000145808	ENST00000274487	T	0.52754	0.65	4.26	3.1	0.35709	.	0.280714	0.28001	N	0.016983	T	0.57257	0.2041	L	0.49455	1.56	0.51767	D	0.999939	D	0.71674	0.998	D	0.68765	0.96	T	0.53940	-0.8367	9	.	.	.	.	10.1071	0.42539	0.9192:0.0:0.0808:0.0	.	1112	Q8TE59	ATS19_HUMAN	F	1112	ENSP00000274487:I1112F	.	I	+	1	0	ADAMTS19	129098563	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	2.244000	0.43124	0.978000	0.38470	0.477000	0.44152	ATC		0.378	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		T	129070664	A	T	129070664	3	4	456	1	0	0	0	0	1	0	0	0	264	101	4	5	3420	5	ADAMTS19	5	129070664	Missense_Mutation	SNP	A	TCGA-61-2097-01A-02W-0722-08	6709141	129070664	51844596	8	25012											
DOCK2	1794	broad.mit.edu	37	5	169483729	169483729	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr5:169483729G>A	ENST00000256935.8	+	43	4417	c.4337G>A	c.(4336-4338)cGg>cAg	p.R1446Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R938Q|DOCK2_ENST00000540750.1_Missense_Mutation_p.R507Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1446	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1446Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTACTCCCGGCCCGTGCGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	5											105	89	95					5																	169483729		2203	4300	6503	169416307	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4337G>A	5.37:g.169483729G>A	ENSP00000256935:p.Arg1446Gln		169416307	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	36	5.817034	0.96982	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.18174	2.23;2.23;2.23	5.27	5.27	0.74061	.	0.070853	0.64402	D	0.000015	T	0.51770	0.1694	M	0.93638	3.44	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	P;P	0.61722	0.893;0.75	T	0.66412	-0.5930	10	0.72032	D	0.01	.	18.8867	0.92381	0.0:0.0:1.0:0.0	.	938;1446	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	1446;938;507	ENSP00000256935:R1446Q;ENSP00000429283:R938Q;ENSP00000438827:R507Q	ENSP00000256935:R1446Q	R	+	2	0	DOCK2	169416307	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.026000	0.88783	2.449000	0.82847	0.650000	0.86243	CGG		0.567	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169483729	G	A	169483729	3	1	456	1	0	0	0	0	1	0	0	0	4687	1116	39	1	4507	1	DOCK2	5	169483729	Missense_Mutation	SNP	G	TCGA-61-2097-01A-02W-0722-08	40413065	169483729	11431531	9	25013											
MYLK4	340156	broad.mit.edu	37	6	2689130	2689130	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr6:2689130G>A	ENST00000274643.7	-	4	638	c.296C>T	c.(295-297)gCg>gTg	p.A99V	MYLK4_ENST00000268446.5_Missense_Mutation_p.A99V	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	99						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A99V(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GCTGTTGACCGCTCCTTGCTT	0.468																																																2	Substitution - Missense(2)	ovary(2)	6											208	216	213					6																	2689130		2203	4300	6503	2634129	SO:0001583	missense	340156				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.296C>T	6.37:g.2689130G>A	ENSP00000274643:p.Ala99Val		2634129	A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045175	0.36085	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.68624	0.0;-0.34	5.37	5.37	0.77165	Protein kinase-like domain (1);	0.315387	0.22663	N	0.057169	T	0.32285	0.0824	L	0.29908	0.895	0.09310	N	1	B	0.25169	0.119	B	0.10450	0.005	T	0.02411	-1.1163	10	0.32370	T	0.25	.	8.339	0.32232	0.0836:0.1698:0.7466:0.0	.	99	Q86YV6	MYLK4_HUMAN	V	99	ENSP00000268446:A99V;ENSP00000274643:A99V	ENSP00000268446:A99V	A	-	2	0	MYLK4	2634129	0.198000	0.23374	0.083000	0.20561	0.930000	0.56654	1.546000	0.36179	2.697000	0.92050	0.655000	0.94253	GCG		0.468	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		A	2689130	G	A	2689130	3	1	456	1	0	0	0	0	1	0	0	0	10059	1087	38	1	906	1	MYLK4	6	2689130	Missense_Mutation	SNP	G	TCGA-61-2097-01A-02W-0722-08		2689130	168425937	10	25014											
GABBR1	2550	broad.mit.edu	37	6	29598265	29598265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr6:29598265G>A	ENST00000377034.4	-	4	780	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	GABBR1_ENST00000377012.4_5'Flank|GABBR1_ENST00000376977.3_Nonsense_Mutation_p.Q149*|GABBR1_ENST00000355973.3_5'Flank|GABBR1_ENST00000377016.4_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	149	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.Q149*(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GTGCTCCACTGGCCCTGACTA	0.652																																																1	Substitution - Nonsense(1)	ovary(1)	6											49	54	52					6																	29598265		1510	2708	4218	29706244	SO:0001587	stop_gained	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.445C>T	6.37:g.29598265G>A	ENSP00000366233:p.Gln149*		29706244	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Nonsense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529455	0.85706	.	.	ENSG00000204681	ENST00000376977;ENST00000377034;ENST00000462632	.	.	.	4.73	4.73	0.59995	.	0.150680	0.41712	D	0.000824	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-6.4593	13.2298	0.59936	0.0:0.0:1.0:0.0	.	.	.	.	X	149	.	ENSP00000366176:Q149X	Q	-	1	0	GABBR1	29706244	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.923000	0.56469	2.189000	0.69895	0.561000	0.74099	CAG		0.652	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			A	29598265	G	A	29598265	4	1	456	1	0	0	0	0	0	1	0	0	6155	1357	47	2	2665	2	GABBR1	6	29598265	Nonsense_Mutation	SNP	G	TCGA-61-2097-01A-02W-0722-08	26909135	29598265	141516802	11	25015											
EPHA7	2045	broad.mit.edu	37	6	93953210	93953210	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr6:93953210G>C	ENST00000369303.4	-	17	3115	c.2931C>G	c.(2929-2931)atC>atG	p.I977M		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	977	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.I977M(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCTGCTCATGATTTTCTTTT	0.373																																																1	Substitution - Missense(1)	ovary(1)	6											285	240	255					6																	93953210		2203	4300	6503	94009931	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2931C>G	6.37:g.93953210G>C	ENSP00000358309:p.Ile977Met		94009931	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469553	0.43839	.	.	ENSG00000135333	ENST00000369303	T	0.67171	-0.25	5.79	2.92	0.33932	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.89904	3.07	0.80722	D	1	D;D;D	0.67145	0.988;0.988;0.996	D;P;D	0.69654	0.965;0.876;0.959	T	0.77308	-0.2636	10	0.87932	D	0	.	6.5482	0.22418	0.1345:0.0:0.6122:0.2533	.	973;972;977	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	M	977	ENSP00000358309:I977M	ENSP00000358309:I977M	I	-	3	3	EPHA7	94009931	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.422000	0.21296	0.763000	0.33175	0.591000	0.81541	ATC		0.373	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			C	93953210	G	C	93953210	3	2	456	1	0	0	0	0	1	0	0	0	5172	1280	45	3	69	3	EPHA7	6	93953210	Missense_Mutation	SNP	G	TCGA-61-2097-01A-02W-0722-08	64354945	93953210	77161857	12	25016											
ABCA13	154664	broad.mit.edu	37	7	48428703	48428703	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr7:48428703T>C	ENST00000435803.1	+	37	11564	c.11540T>C	c.(11539-11541)gTg>gCg	p.V3847A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3847	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V3792A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGGTGTCTGTGACCAAGGAA	0.542																																																1	Substitution - Missense(1)	ovary(1)	7											74	76	75					7																	48428703		1916	4142	6058	48399249	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11540T>C	7.37:g.48428703T>C	ENSP00000411096:p.Val3847Ala		48399249	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406793	0.62399	.	.	ENSG00000179869	ENST00000435803	D	0.94650	-3.48	4.59	4.59	0.56863	ABC transporter-like (1);	0.000000	0.39146	N	0.001460	D	0.96093	0.8727	M	0.72353	2.195	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.63793	0.91;0.918	D	0.96259	0.9189	10	0.87932	D	0	.	11.6197	0.51111	0.0:0.0:0.0:1.0	.	1549;3847	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	A	3847	ENSP00000411096:V3847A	ENSP00000411096:V3847A	V	+	2	0	ABCA13	48399249	1.000000	0.71417	0.994000	0.49952	0.265000	0.26407	6.183000	0.72002	1.828000	0.53243	0.533000	0.62120	GTG		0.542	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		C	48428703	T	C	48428703	3	2	456	1	0	0	0	0	1	0	0	0	31	1696	59	4	11515	4	ABCA13	7	48428703	Missense_Mutation	SNP	T	TCGA-61-2097-01A-02W-0722-08		48428703	110709960	13	25017											
HIP1	3092	broad.mit.edu	37	7	75187544	75187544	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr7:75187544T>G	ENST00000336926.6	-	15	1417	c.1391A>C	c.(1390-1392)aAt>aCt	p.N464T	HIP1_ENST00000434438.2_Missense_Mutation_p.N464T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	464	pDED.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.N464T(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCGCTGTTCATTGGCTTGAGC	0.532			T	PDGFRB	CMML																																		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	1	Substitution - Missense(1)	ovary(1)	7											211	170	184					7																	75187544		2203	4300	6503	75025480	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1391A>C	7.37:g.75187544T>G	ENSP00000336747:p.Asn464Thr		75025480	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	T	8.029	0.761420	0.15914	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.13196	2.83;2.61	5.18	5.18	0.71444	.	0.087184	0.85682	D	0.000000	T	0.09992	0.0245	L	0.33485	1.01	0.53688	D	0.999971	B;P	0.41569	0.019;0.755	B;B	0.34824	0.005;0.19	T	0.25847	-1.0120	10	0.16896	T	0.51	-11.8834	14.2287	0.65877	0.0:0.0:0.0:1.0	.	464;464	E7ES17;O00291	.;HIP1_HUMAN	T	464	ENSP00000336747:N464T;ENSP00000410300:N464T	ENSP00000336747:N464T	N	-	2	0	HIP1	75025480	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.145000	0.58065	1.959000	0.56917	0.482000	0.46254	AAT		0.532	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		G	75187544	T	G	75187544	3	3	456	1	0	0	0	0	1	0	0	0	7114	1493	52	5	1790	5	HIP1	7	75187544	Missense_Mutation	SNP	T	TCGA-61-2097-01A-02W-0722-08	26758841	75187544	83951119	14	25018											
PLOD3	8985	broad.mit.edu	37	7	100856464	100856464	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr7:100856464T>A	ENST00000223127.3	-	7	1099	c.701A>T	c.(700-702)gAt>gTt	p.D234V		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	234					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.D234V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACGGTTCCGATCAAACTTTAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	7											71	62	65					7																	100856464		2203	4300	6503	100643184	SO:0001583	missense	8985			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.701A>T	7.37:g.100856464T>A	ENSP00000223127:p.Asp234Val		100643184	B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	CCDS5715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.22|13.22	2.172897|2.172897	0.38413|0.38413	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000223127;ENST00000541462|ENST00000421736	T|.	0.64991|.	-0.13|.	5.25|5.25	4.11|4.11	0.48088|0.48088	.|.	0.197289|.	0.41938|.	D|.	0.000797|.	T|T	0.45994|0.45994	0.1370|0.1370	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.20887|.	0.049|.	B|.	0.19946|.	0.027|.	T|T	0.29150|0.29150	-1.0021|-1.0021	10|5	0.49607|.	T|.	0.09|.	-11.8207|-11.8207	6.8927|6.8927	0.24238|0.24238	0.0:0.1098:0.0:0.8902|0.0:0.1098:0.0:0.8902	.|.	234|.	O60568|.	PLOD3_HUMAN|.	V|F	234;138|67	ENSP00000223127:D234V|.	ENSP00000223127:D234V|.	D|I	-|-	2|1	0|0	PLOD3|PLOD3	100643184|100643184	0.996000|0.996000	0.38824|0.38824	0.805000|0.805000	0.32314|0.32314	0.557000|0.557000	0.35523|0.35523	2.626000|2.626000	0.46460|0.46460	0.862000|0.862000	0.35528|0.35528	0.379000|0.379000	0.24179|0.24179	GAT|ATC		0.532	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			A	100856464	T	A	100856464	3	1	456	1	0	0	0	0	1	0	0	0	12103	1435	50	5	1567	5	PLOD3	7	100856464	Missense_Mutation	SNP	T	TCGA-61-2097-01A-02W-0722-08	25668920	100856464	58282199	15	25019											
FOXP2	93986	broad.mit.edu	37	7	114284750	114284750	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr7:114284750G>T	ENST00000393494.2	+	8	1279	c.1000G>T	c.(1000-1002)Gag>Tag	p.E334*	FOXP2_ENST00000378237.3_Nonsense_Mutation_p.E334*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.E242*|FOXP2_ENST00000393500.3_Nonsense_Mutation_p.E259*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.E334*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.E313*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.E351*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.E359*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.E358*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.E334*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.E242*			O15409	FOXP2_HUMAN	forkhead box P2	334					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E359*(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTCGTCACATGAGGAGACTGG	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	7											84	77	80					7																	114284750		2203	4300	6503	114071986	SO:0001587	stop_gained	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1000G>T	7.37:g.114284750G>T	ENSP00000377132:p.Glu334*		114071986	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Nonsense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	36	5.812943	0.96975	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7059	0.96071	0.0:0.0:1.0:0.0	.	.	.	.	X	259;334;359;351;334;311;334;242;334;358;242	.	ENSP00000265436:E334X	E	+	1	0	FOXP2	114071986	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.420000	0.97426	2.673000	0.90976	0.591000	0.81541	GAG		0.463	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		T	114284750	G	T	114284750	4	4	456	1	0	0	0	0	0	1	0	0	6027	1291	45	3	1160	3	FOXP2	7	114284750	Nonsense_Mutation	SNP	G	TCGA-61-2097-01A-02W-0722-08	13428286	114284750	44853913	16	25020											
C7orf58	79974	broad.mit.edu	37	7	120876863	120876863	+	Silent	SNP	A	A	G			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr7:120876863A>G	ENST00000310396.5	+	17	2618	c.2151A>G	c.(2149-2151)agA>agG	p.R717R	CPED1_ENST00000423795.1_Silent_p.R497R|CPED1_ENST00000450913.2_Silent_p.R717R	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	717						endoplasmic reticulum (GO:0005783)		p.R717R(1)									AACTAAAAAGATGTCCATCTG	0.363																																																1	Substitution - coding silent(1)	ovary(1)	7											95	91	93					7																	120876863		2203	4300	6503	120664099	SO:0001819	synonymous_variant	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2151A>G	7.37:g.120876863A>G			120664099	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	CCDS34739.1																																																																																				0.363	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		G	120876863	A	G	120876863	2	3	456	1	0	0	0	0	0	0	0	1	2405	330	12	4		4	C7orf58	7	120876863	Silent	SNP	A	TCGA-61-2097-01A-02W-0722-08	6592113	120876863	38261800	17	25021											
PARP12	64761	broad.mit.edu	37	7	139746809	139746809	+	Splice_Site	SNP	T	T	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr7:139746809T>A	ENST00000263549.3	-	5	1736		c.e5-2			NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12							nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCACTTATCTGAAATAAAAA	0.448																																																1	Unknown(1)	ovary(1)	7											84	77	80					7																	139746809		2203	4300	6503	139393278	SO:0001630	splice_region_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.863-2A>T	7.37:g.139746809T>A			139393278	Q9H610|Q9NP36|Q9NTI3	Splice_Site	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270751	0.23221	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.56	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9194	0.41455	0.0:0.1383:0.0:0.8617	.	.	.	.	.	-1	.	.	.	-	.	.	PARP12	139393278	1.000000	0.71417	0.767000	0.31495	0.135000	0.20990	6.980000	0.76160	0.494000	0.27859	0.448000	0.29417	.		0.448	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750	Intron	A	139746809	T	A	139746809	5	1	456	1	0	0	0	0	0	0	1	0	11457	1594	55	5	1276	5	PARP12	7	139746809	Splice_Site	SNP	T	TCGA-61-2097-01A-02W-0722-08	18869946	139746809	19391854	18	25022											
TRPV5	56302	broad.mit.edu	37	7	142626208	142626208	+	Silent	SNP	G	G	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr7:142626208G>A	ENST00000265310.1	-	5	843	c.495C>T	c.(493-495)caC>caT	p.H165H	TRPV5_ENST00000442623.1_Silent_p.H165H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	165					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.H165H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGACAAAGGGTGCTCCCCTG	0.602																																																1	Substitution - coding silent(1)	ovary(1)	7											65	52	57					7																	142626208		2203	4300	6503	142336330	SO:0001819	synonymous_variant	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.495C>T	7.37:g.142626208G>A			142336330	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	CCDS5875.1																																																																																				0.602	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		A	142626208	G	A	142626208	2	1	456	1	0	0	0	0	0	0	0	1	16599	1252	44	2		2	TRPV5	7	142626208	Silent	SNP	G	TCGA-61-2097-01A-02W-0722-08	2879399	142626208	16512455	19	25023											
RP1	6101	broad.mit.edu	37	8	55537421	55537421	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr8:55537421C>G	ENST00000220676.1	+	4	1127	c.979C>G	c.(979-981)Caa>Gaa	p.Q327E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	327					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.Q327E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTTTTAATCAAGACGGCAC	0.323																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	ovary(1)	8											62	64	63					8																	55537421		2203	4299	6502	55699974	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.979C>G	8.37:g.55537421C>G	ENSP00000220676:p.Gln327Glu		55699974		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636856	0.47049	.	.	ENSG00000104237	ENST00000220676	T	0.23950	1.88	5.08	5.08	0.68730	.	0.000000	0.56097	D	0.000036	T	0.35595	0.0937	L	0.50333	1.59	0.32178	N	0.580706	P	0.52463	0.953	P	0.49387	0.609	T	0.40515	-0.9559	10	0.44086	T	0.13	.	18.4969	0.90867	0.0:1.0:0.0:0.0	.	327	P56715	RP1_HUMAN	E	327	ENSP00000220676:Q327E	ENSP00000220676:Q327E	Q	+	1	0	RP1	55699974	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.612000	0.61169	2.361000	0.80049	0.655000	0.94253	CAA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		G	55537421	C	G	55537421	3	3	456	1	0	0	0	0	1	0	0	0	13535	827	29	3	989	3	RP1	8	55537421	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08		55537421	90826601	20	25024											
KIF24	347240	broad.mit.edu	37	9	34256558	34256558	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr9:34256558G>C	ENST00000402558.2	-	10	3071	c.3047C>G	c.(3046-3048)cCa>cGa	p.P1016R	KIF24_ENST00000379174.3_Missense_Mutation_p.P882R|KIF24_ENST00000345050.2_Missense_Mutation_p.P882R|KIF24_ENST00000379166.2_Missense_Mutation_p.P1016R			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1016					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P498R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CACCTGGATTGGGCCGTCTGC	0.532																																																1	Substitution - Missense(1)	ovary(1)	9											152	133	140					9																	34256558		2203	4300	6503	34246558	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3047C>G	9.37:g.34256558G>C	ENSP00000384433:p.Pro1016Arg		34246558	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632846	0.29068	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.70749	-0.3;-0.51;-0.3;-0.51	5.51	1.28	0.21552	.	0.700151	0.12488	N	0.464479	T	0.55016	0.1894	L	0.53249	1.67	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.31308	-0.9948	10	0.14252	T	0.57	.	1.0669	0.01612	0.199:0.1305:0.4122:0.2582	.	1016	Q5T7B8	KIF24_HUMAN	R	1016;882;1016;882;1016	ENSP00000384433:P1016R;ENSP00000368472:P882R;ENSP00000368464:P1016R;ENSP00000340179:P882R	ENSP00000340179:P882R	P	-	2	0	KIF24	34246558	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.053000	0.14184	0.684000	0.31448	0.563000	0.77884	CCA		0.532	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			C	34256558	G	C	34256558	3	2	456	1	0	0	0	0	1	0	0	0	8292	1348	47	3	1071	3	KIF24	9	34256558	Missense_Mutation	SNP	G	TCGA-61-2097-01A-02W-0722-08		34256558	106956873	21	25025											
TRPM3	80036	broad.mit.edu	37	9	73426148	73426148	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr9:73426148A>T	ENST00000396292.4	-	5	526	c.527T>A	c.(526-528)tTt>tAt	p.F176Y	TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.F176Y|TRPM3_ENST00000377106.1_Missense_Mutation_p.F176Y|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000396280.5_Intron|MIR204_ENST00000385200.1_RNA|TRPM3_ENST00000358082.3_Missense_Mutation_p.F176Y|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.F331Y|TRPM3_ENST00000396283.1_Missense_Mutation_p.F176Y|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	329					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.F176Y(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGAGAGAAAAACGGCAGGCA	0.338																																																1	Substitution - Missense(1)	ovary(1)	9											60	64	63					9																	73426148		2203	4300	6503	72615968	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000396292.4:c.527T>A	9.37:g.73426148A>T	ENSP00000379587:p.Phe176Tyr		72615968	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000396292.4	37	CCDS6635.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739479	0.30774	.	.	ENSG00000083067	ENST00000377106;ENST00000360823;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000396283	T;T;T;T;T;T	0.66995	0.6;0.61;0.6;0.61;0.65;-0.24	4.79	4.79	0.61399	.	.	.	.	.	T	0.62085	0.2399	N	0.11927	0.2	0.80722	D	1	P	0.43392	0.805	P	0.57776	0.827	T	0.60306	-0.7289	9	0.30854	T	0.27	.	11.0179	0.47701	1.0:0.0:0.0:0.0	.	176	A2A3F4	.	Y	176;176;176;176;331;176	ENSP00000366310:F176Y;ENSP00000354066:F176Y;ENSP00000379587:F176Y;ENSP00000350791:F176Y;ENSP00000389542:F331Y;ENSP00000379579:F176Y	ENSP00000350791:F176Y	F	-	2	0	TRPM3	72615968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.575000	0.53870	2.371000	0.80710	0.533000	0.62120	TTT		0.338	TRPM3-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214161.2	NM_206945		T	73426148	A	T	73426148	3	4	456	1	0	0	0	0	1	0	0	0	16587	14	1	5	4336	5	TRPM3	9	73426148	Missense_Mutation	SNP	A	TCGA-61-2097-01A-02W-0722-08	39169590	73426148	67787283	22	25026											
OIT3	170392	broad.mit.edu	37	10	74684366	74684366	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr10:74684366T>A	ENST00000334011.5	+	7	1549	c.1331T>A	c.(1330-1332)aTc>aAc	p.I444N		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	444	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I444N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACCTCCAAGATCGACGAGGTC	0.547																																					Colon(7;19 345 13446 17537)											1	Substitution - Missense(1)	ovary(1)	10											69	60	63					10																	74684366		2203	4300	6503	74354372	SO:0001583	missense	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1331T>A	10.37:g.74684366T>A	ENSP00000333900:p.Ile444Asn		74354372	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129331	0.37630	.	.	ENSG00000138315	ENST00000334011	D	0.81821	-1.54	5.59	5.59	0.84812	Zona pellucida sperm-binding protein (3);	0.211793	0.31577	N	0.007412	T	0.66268	0.2772	L	0.29908	0.895	0.29520	N	0.853595	B	0.06786	0.001	B	0.08055	0.003	T	0.55774	-0.8088	10	0.21014	T	0.42	-16.0692	6.2333	0.20747	0.1426:0.0746:0.0:0.7828	.	444	Q8WWZ8	OIT3_HUMAN	N	444	ENSP00000333900:I444N	ENSP00000333900:I444N	I	+	2	0	OIT3	74354372	0.997000	0.39634	0.997000	0.53966	0.983000	0.72400	2.976000	0.49289	2.122000	0.65172	0.460000	0.39030	ATC		0.547	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		A	74684366	T	A	74684366	3	1	456	1	0	0	0	0	1	0	0	0	10849	1435	50	5	1357	5	OIT3	10	74684366	Missense_Mutation	SNP	T	TCGA-61-2097-01A-02W-0722-08		74684366	60850381	23	25027											
GSTO2	119391	broad.mit.edu	37	10	106057406	106057406	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr10:106057406C>T	ENST00000338595.2	+	6	859	c.539C>T	c.(538-540)cCc>cTc	p.P180L	GSTO2_ENST00000429569.2_Intron|GSTO2_ENST00000369707.2_Missense_Mutation_p.P152L|GSTO2_ENST00000450629.2_Missense_Mutation_p.P146L	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	180	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)	p.P180L(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	CTCCTCTGGCCCTGGTTTGAG	0.413											OREG0020517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	10											162	145	151					10																	106057406		2203	4300	6503	106047396	SO:0001583	missense	119391			AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.539C>T	10.37:g.106057406C>T	ENSP00000345023:p.Pro180Leu	1394	106047396	A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	CCDS7556.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755832	0.89843	.	.	ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000369707	D;T;D	0.95272	-3.66;2.09;-3.66	6.17	6.17	0.99709	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.048732	0.85682	D	0.000000	D	0.97210	0.9088	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	D	0.97253	0.9899	10	0.87932	D	0	-18.698	16.3795	0.83443	0.0:1.0:0.0:0.0	.	146;180	B4DJW6;Q9H4Y5	.;GSTO2_HUMAN	L	180;180;146;152	ENSP00000345023:P180L;ENSP00000390986:P146L;ENSP00000358721:P152L	ENSP00000345023:P180L	P	+	2	0	GSTO2	106047396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.648000	0.61425	2.941000	0.99782	0.655000	0.94253	CCC		0.413	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		T	106057406	C	T	106057406	3	4	456	1	0	0	0	0	1	0	0	0	6843	623	22	2	557	2	GSTO2	10	106057406	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	31373040	106057406	29477341	24	25028											
PACS1	55690	broad.mit.edu	37	11	66000526	66000526	+	Silent	SNP	G	G	C			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr11:66000526G>C	ENST00000320580.4	+	15	1860	c.1827G>C	c.(1825-1827)cgG>cgC	p.R609R	PACS1_ENST00000529757.1_Silent_p.R145R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	609					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.R609R(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGCTCACCCGGATCCAGCGCT	0.607																																																1	Substitution - coding silent(1)	ovary(1)	11											114	102	106					11																	66000526		2200	4295	6495	65757102	SO:0001819	synonymous_variant	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1827G>C	11.37:g.66000526G>C			65757102	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	CCDS8129.1																																																																																				0.607	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		C	66000526	G	C	66000526	2	2	456	1	0	0	0	0	0	0	0	1	11372	1161	41	3		3	PACS1	11	66000526	Silent	SNP	G	TCGA-61-2097-01A-02W-0722-08		66000526	69005990	25	25029											
SERPINH1	871	broad.mit.edu	37	11	75283087	75283087	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr11:75283087C>G	ENST00000524558.1	+	5	2651	c.1216C>G	c.(1216-1218)Ctg>Gtg	p.L406V	SERPINH1_ENST00000358171.3_Missense_Mutation_p.L406V|SERPINH1_ENST00000525876.1_Missense_Mutation_p.L189V|SERPINH1_ENST00000533603.1_Missense_Mutation_p.L406V			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	406					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L406V(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CATTGGGCGCCTGGTCCGGCC	0.612																																																1	Substitution - Missense(1)	ovary(1)	11											30	30	30					11																	75283087		2200	4293	6493	74960735	SO:0001583	missense	871			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.1216C>G	11.37:g.75283087C>G	ENSP00000434412:p.Leu406Val		74960735	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647676	0.47258	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000421448;ENST00000524558;ENST00000525876	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.0	4.06	0.47325	Serpin domain (3);	0.304109	0.32258	N	0.006346	T	0.77039	0.4072	L	0.28556	0.865	0.44908	D	0.997923	P	0.38129	0.619	B	0.37833	0.259	T	0.73493	-0.3965	10	0.26408	T	0.33	.	13.2252	0.59911	0.0:0.8386:0.1614:0.0	.	406	P50454	SERPH_HUMAN	V	406;406;385;406;189	ENSP00000434657:L406V;ENSP00000350894:L406V;ENSP00000434412:L406V;ENSP00000433532:L189V	ENSP00000350894:L406V	L	+	1	2	SERPINH1	74960735	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.259000	0.43259	1.179000	0.42884	0.462000	0.41574	CTG		0.612	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		G	75283087	C	G	75283087	3	3	456	1	0	0	0	0	1	0	0	0	14120	680	24	3	1230	3	SERPINH1	11	75283087	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	9282561	75283087	59723429	26	25030											
ITGB7	3695	broad.mit.edu	37	12	53589942	53589942	+	Silent	SNP	G	G	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr12:53589942G>A	ENST00000267082.5	-	7	1089	c.858C>T	c.(856-858)ttC>ttT	p.F286F	ITGB7_ENST00000338737.4_Silent_p.F286F|ITGB7_ENST00000550743.2_Silent_p.F286F|ITGB7_ENST00000422257.3_Silent_p.F286F	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	286	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.F286F(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGTCTGAAGTGAACACCAGCA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	12											88	81	83					12																	53589942		2203	4300	6503	51876209	SO:0001819	synonymous_variant	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.858C>T	12.37:g.53589942G>A			51876209	Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	CCDS8849.1																																																																																				0.577	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			A	53589942	G	A	53589942	2	1	456	1	0	0	0	0	0	0	0	1	7900	1281	45	2		2	ITGB7	12	53589942	Silent	SNP	G	TCGA-61-2097-01A-02W-0722-08		53589942	80261953	27	25031											
CAPS2	84698	broad.mit.edu	37	12	75687098	75687098	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr12:75687098C>A	ENST00000409445.3	-	13	1347	c.1151G>T	c.(1150-1152)aGc>aTc	p.S384I	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.S302I|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000393284.3_Missense_Mutation_p.S152I	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	384							calcium ion binding (GO:0005509)	p.S152I(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTCTTTGATGCTTTCTGGAAG	0.323																																																1	Substitution - Missense(1)	ovary(1)	12											123	113	116					12																	75687098		2203	4298	6501	73973365	SO:0001583	missense	84698			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1151G>T	12.37:g.75687098C>A	ENSP00000386959:p.Ser384Ile		73973365	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867405	0.51588	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.27557	1.73;1.66;1.78	4.6	1.46	0.22682	.	0.120057	0.53938	D	0.000059	T	0.49864	0.1582	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.69078	0.997;0.993;0.991;0.989	D;P;P;P	0.65140	0.932;0.906;0.817;0.814	T	0.52756	-0.8533	10	0.72032	D	0.01	-4.1205	10.2991	0.43642	0.0:0.6753:0.251:0.0736	.	152;120;384;302	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	I	302;384;120;152	ENSP00000386977:S302I;ENSP00000386959:S384I;ENSP00000376963:S152I	ENSP00000367975:S120I	S	-	2	0	CAPS2	73973365	1.000000	0.71417	0.980000	0.43619	0.501000	0.33797	1.667000	0.37471	0.466000	0.27193	0.446000	0.29264	AGC		0.323	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			A	75687098	C	A	75687098	3	1	456	1	0	0	0	0	1	0	0	0	2638	797	28	3	546	3	CAPS2	12	75687098	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	22097156	75687098	58164797	28	25032											
N4BP2L2	10443	broad.mit.edu	37	13	33017740	33017740	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr13:33017740G>T	ENST00000504114.1	-	6	980	c.889C>A	c.(889-891)Ctt>Att	p.L297I	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.L312I|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.L297I			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.L195I(1)|p.L312I(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCCGCAGAAAGGTCCTGGGTG	0.388																																																2	Substitution - Missense(2)	ovary(2)	13											83	77	79					13																	33017740		1852	4092	5944	31915740	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.889C>A	13.37:g.33017740G>T	ENSP00000427477:p.Leu297Ile		31915740	A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		.	.	.	.	.	.	.	.	.	.	G	12.44	1.940044	0.34283	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.68	-4.47	0.03525	.	4.124510	0.00622	N	0.000447	T	0.19685	0.0473	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.41265	0.744;0.744;0.744;0.744	B;B;B;B	0.40825	0.271;0.211;0.341;0.341	T	0.11131	-1.0600	9	0.54805	T	0.06	3.5961	2.1563	0.03813	0.1401:0.3067:0.2763:0.2769	.	297;312;195;195	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	I	195;224;297;297;312	.	ENSP00000350104:L297I	L	-	1	0	N4BP2L2;RP11-298P3.4	31915740	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.160000	0.03147	-1.222000	0.02587	0.563000	0.77884	CTT		0.388	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		T	33017740	G	T	33017740	3	4	456	1	0	0	0	0	1	0	0	0	10112	1000	35	3	1336	3	N4BP2L2	13	33017740	Missense_Mutation	SNP	G	TCGA-61-2097-01A-02W-0722-08		33017740	82152138	29	25033											
ZNF828	283489	broad.mit.edu	37	13	115090658	115090658	+	Silent	SNP	T	T	C			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr13:115090658T>C	ENST00000361283.1	+	3	1650	c.1341T>C	c.(1339-1341)gaT>gaC	p.D447D		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	447	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D447D(1)									GGTCACCAGATCTTTGGAAGC	0.532																																																1	Substitution - coding silent(1)	ovary(1)	13											112	129	123					13																	115090658		2203	4300	6503	114108760	SO:0001819	synonymous_variant	283489			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1341T>C	13.37:g.115090658T>C			114108760	B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	CCDS9545.1																																																																																				0.532	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		C	115090658	T	C	115090658	2	2	456	1	0	0	0	0	0	0	0	1	18181	1432	50	4		4	ZNF828	13	115090658	Silent	SNP	T	TCGA-61-2097-01A-02W-0722-08	82072918	115090658	79220	30	25034											
TGM7	116179	broad.mit.edu	37	15	43579831	43579831	+	Silent	SNP	G	G	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr15:43579831G>A	ENST00000452443.2	-	5	599	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	199					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L199L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTCTTGTTCAGGATCTCAAAG	0.443																																																1	Substitution - coding silent(1)	ovary(1)	15											114	103	107					15																	43579831		2201	4299	6500	41367123	SO:0001819	synonymous_variant	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.595C>T	15.37:g.43579831G>A			41367123		Silent	SNP	ENST00000452443.2	37	CCDS32213.1																																																																																				0.443	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		A	43579831	G	A	43579831	2	1	456	1	0	0	0	0	0	0	0	1	15835	991	35	2		2	TGM7	15	43579831	Silent	SNP	G	TCGA-61-2097-01A-02W-0722-08		43579831	58951561	31	25035											
TIPIN	54962	broad.mit.edu	37	15	66641743	66641743	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr15:66641743C>G	ENST00000261881.4	-	5	406	c.321G>C	c.(319-321)atG>atC	p.M107I	TIPIN_ENST00000367709.4_Missense_Mutation_p.M6I|Y_RNA_ENST00000411339.1_RNA|SCARNA14_ENST00000516903.1_RNA	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	107	Interaction with TIMELESS.				cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)		p.M107I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CCCAGTGCTCCATGTGTCTGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	15											114	110	111					15																	66641743		2201	4299	6500	64428797	SO:0001583	missense	54962			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"CSM3 homolog (S. cerevisiae)"	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.321G>C	15.37:g.66641743C>G	ENSP00000261881:p.Met107Ile		64428797	B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476849	0.84640	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.44482	0.92;0.92	5.54	5.54	0.83059	Replication fork protection component Swi3 (2);	0.036385	0.85682	D	0.000000	T	0.54822	0.1882	L	0.48642	1.525	0.80722	D	1	D	0.54964	0.969	P	0.58660	0.843	T	0.50398	-0.8833	10	0.44086	T	0.13	-16.6675	18.0484	0.89340	0.0:1.0:0.0:0.0	.	107	Q9BVW5	TIPIN_HUMAN	I	6;107	ENSP00000356682:M6I;ENSP00000261881:M107I	ENSP00000261881:M107I	M	-	3	0	TIPIN	64428797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.427000	0.80284	2.610000	0.88304	0.555000	0.69702	ATG		0.423	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		G	66641743	C	G	66641743	3	3	456	1	0	0	0	0	1	0	0	0	15925	594	21	3	600	3	TIPIN	15	66641743	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	23061912	66641743	35889649	32	25036											
SNX29	92017	broad.mit.edu	37	16	12571642	12571642	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr16:12571642C>T	ENST00000566228.1	+	19	2173	c.2104C>T	c.(2104-2106)Cac>Tac	p.H702Y	SNX29_ENST00000323433.4_Missense_Mutation_p.H317Y|SNX29_ENST00000306030.3_Missense_Mutation_p.H317Y	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	702	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.H317Y(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CAGGAGTTTGCACCACAAGTT	0.448																																																1	Substitution - Missense(1)	ovary(1)	16											68	65	66					16																	12571642		1901	4113	6014	12479143	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2104C>T	16.37:g.12571642C>T	ENSP00000456480:p.His702Tyr		12479143	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332281	0.81801	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	T;T	0.51325	0.71;0.71	5.84	5.84	0.93424	.	0.120261	0.56097	D	0.000035	T	0.53465	0.1798	L	0.41124	1.26	0.36594	D	0.874262	.	.	.	.	.	.	T	0.54918	-0.8221	8	0.35671	T	0.21	-26.3962	17.6471	0.88151	0.0:1.0:0.0:0.0	.	.	.	.	Y	317	ENSP00000306940:H317Y;ENSP00000322226:H317Y	ENSP00000306940:H317Y	H	+	1	0	SNX29	12479143	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.303000	0.78871	2.758000	0.94735	0.655000	0.94253	CAC		0.448	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			T	12571642	C	T	12571642	3	4	456	1	0	0	0	0	1	0	0	0	14901	710	25	2	991	2	SNX29	16	12571642	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08		12571642	77783111	33	25037											
CDH3	1001	broad.mit.edu	37	16	68716324	68716324	+	Silent	SNP	C	C	T	rs139565232		TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr16:68716324C>T	ENST00000264012.4	+	9	1660	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D	CDH3_ENST00000429102.2_Silent_p.D372D|CDH3_ENST00000581171.1_Silent_p.D317D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	372	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D372D(2)|p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGGGCGGTGACGACGGGGACC	0.587																																																4	Unknown(2)|Substitution - coding silent(2)	breast(2)|ovary(1)|endometrium(1)	16						C		3,4393	6.2+/-15.9	0,3,2195	115	87	96		1116	-5.4	0	16	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	CDH3	NM_001793.4		0,3,6495	TT,TC,CC		0.0,0.0682,0.0231		372/830	68716324	3,12993	2198	4300	6498	67273825	SO:0001819	synonymous_variant	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1116C>T	16.37:g.68716324C>T			67273825	B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	CCDS10868.1																																																																																				0.587	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		T	68716324	C	T	68716324	2	4	456	1	0	0	0	0	0	0	0	1	3111	535	19	1		1	CDH3	16	68716324	Silent	SNP	C	TCGA-61-2097-01A-02W-0722-08	56144682	68716324	21638429	34	25038											
SHPK	23729	broad.mit.edu	37	17	3524627	3524627	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr17:3524627T>C	ENST00000225519.3	-	5	829	c.727A>G	c.(727-729)Atg>Gtg	p.M243V		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	243					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)	p.M243V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		TCAAACCACATGTGGGAAGTT	0.562																																																1	Substitution - Missense(1)	ovary(1)	17											52	49	50					17																	3524627		2203	4300	6503	3471376	SO:0001583	missense	23729			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.727A>G	17.37:g.3524627T>C	ENSP00000225519:p.Met243Val		3471376	B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	T	2.729	-0.264949	0.05754	.	.	ENSG00000197417	ENST00000225519	T	0.44881	0.91	4.75	-9.1	0.00714	Carbohydrate kinase, FGGY, N-terminal (1);	1.030440	0.07677	N	0.936502	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17745	-1.0359	10	0.25106	T	0.35	0.1098	5.9487	0.19234	0.1912:0.589:0.0954:0.1244	.	243	Q9UHJ6	SHPK_HUMAN	V	243	ENSP00000225519:M243V	ENSP00000225519:M243V	M	-	1	0	SHPK	3471376	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.332000	0.07904	-1.530000	0.01751	-1.150000	0.01838	ATG		0.562	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			C	3524627	T	C	3524627	3	2	456	1	0	0	0	0	1	0	0	0	14293	1464	51	4	721	4	SHPK	17	3524627	Missense_Mutation	SNP	T	TCGA-61-2097-01A-02W-0722-08		3524627	77670583	35	25039											
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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"	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	17	GRCh37	CM004908	TP53	M							62	48	53					17																	7574003		2203	4300	6503	7514728	SO:0001587	stop_gained	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		7514728	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7574003	G	A	7574003	4	1	456	1	0	0	0	0	0	1	0	0	16381	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-61-2097-01A-02W-0722-08	4049376	7574003	73621207	36	25040											
MYH4	4622	broad.mit.edu	37	17	10360858	10360858	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr17:10360858G>T	ENST00000255381.2	-	16	1886	c.1776C>A	c.(1774-1776)aaC>aaA	p.N592K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	592	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.N592K(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGCCGGCGATGTTGTAGTCCA	0.537																																																1	Substitution - Missense(1)	ovary(1)	17											118	117	117					17																	10360858		2203	4300	6503	10301583	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1776C>A	17.37:g.10360858G>T	ENSP00000255381:p.Asn592Lys		10301583		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522030	0.64747	.	.	ENSG00000141048	ENST00000255381	T	0.72725	-0.68	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.000000	0.40728	U	0.001031	D	0.86406	0.5925	M	0.87758	2.905	0.58432	D	0.999999	D	0.56287	0.975	D	0.70716	0.97	D	0.88797	0.3282	10	0.87932	D	0	.	18.6894	0.91577	0.0:0.0:1.0:0.0	.	592	Q9Y623	MYH4_HUMAN	K	592	ENSP00000255381:N592K	ENSP00000255381:N592K	N	-	3	2	MYH4	10301583	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	2.449000	0.44935	2.496000	0.84212	0.561000	0.74099	AAC		0.537	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		T	10360858	G	T	10360858	3	4	456	1	0	0	0	0	1	0	0	0	10037	1368	48	3	4143	3	MYH4	17	10360858	Missense_Mutation	SNP	G	TCGA-61-2097-01A-02W-0722-08	2786855	10360858	70834352	37	25041											
C17orf102	400591	broad.mit.edu	37	17	32904575	32904575	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr17:32904575C>T	ENST00000357754.1	-	2	563	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	159								p.A159T(1)		central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						aggacaagagctggttttgtc	0.478																																																1	Substitution - Missense(1)	ovary(1)	17											113	107	109					17																	32904575		2018	4194	6212	29928688	SO:0001583	missense	400591				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.475G>A	17.37:g.32904575C>T	ENSP00000350392:p.Ala159Thr		29928688	A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	C	6.725	0.502571	0.12822	.	.	ENSG00000197322	ENST00000357754	T	0.38560	1.13	3.56	1.55	0.23275	.	.	.	.	.	T	0.24084	0.0583	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.21280	-1.0250	9	0.87932	D	0	.	5.9512	0.19248	0.0:0.7577:0.0:0.2423	.	159	A2RUQ5	CQ102_HUMAN	T	159	ENSP00000350392:A159T	ENSP00000350392:A159T	A	-	1	0	C17orf102	29928688	0.007000	0.16637	0.000000	0.03702	0.055000	0.15305	0.862000	0.27899	0.505000	0.28104	-0.123000	0.14984	GCT		0.478	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		T	32904575	C	T	32904575	3	4	456	1	0	0	0	0	1	0	0	0	1849	797	28	2	32	2	C17orf102	17	32904575	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	22543717	32904575	48290635	38	25042											
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	G	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000406385.1_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P					peptidylprolyl isomerase (cyclophilin)-like 2									p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547																																																1	Substitution - coding silent(1)	ovary(1)	22											39	39	39					22																	22039067		2203	4300	6503	20369067	SO:0001819	synonymous_variant	23759				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.579G>A	22.37:g.22039067G>A			20369067		Silent	SNP	ENST00000335025.8	37	CCDS13793.1																																																																																				0.547	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			A	22039067	G	A	22039067	2	1	456	1	0	0	0	0	0	0	0	1	12330	1132	40	1		1	PPIL2	22	22039067	Silent	SNP	G	TCGA-61-2097-01A-02W-0722-08		22039067	29265499	39	25043											
ZBED4	9889	broad.mit.edu	37	22	50280470	50280470	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chr22:50280470C>G	ENST00000216268.5	+	2	3637	c.3160C>G	c.(3160-3162)Ccg>Gcg	p.P1054A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1054						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1054A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTGGCTCCCCGTCGAAAGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	22											60	54	56					22																	50280470		2203	4300	6503	48666474	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3160C>G	22.37:g.50280470C>G	ENSP00000216268:p.Pro1054Ala		48666474	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	4.270	0.049121	0.08243	.	.	ENSG00000100426	ENST00000216268	T	0.21031	2.03	5.18	4.15	0.48705	Ribonuclease H-like (1);	0.290655	0.32952	N	0.005451	T	0.14830	0.0358	L	0.46157	1.445	0.38290	D	0.942678	P	0.39282	0.666	B	0.27380	0.079	T	0.10086	-1.0645	10	0.45353	T	0.12	-19.1518	9.3357	0.38049	0.0:0.7789:0.1462:0.075	.	1054	O75132	ZBED4_HUMAN	A	1054	ENSP00000216268:P1054A	ENSP00000216268:P1054A	P	+	1	0	ZBED4	48666474	1.000000	0.71417	0.497000	0.27552	0.023000	0.10783	3.298000	0.51818	1.403000	0.46800	0.655000	0.94253	CCG		0.542	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		G	50280470	C	G	50280470	3	3	456	1	0	0	0	0	1	0	0	0	17520	623	22	3	3162	3	ZBED4	22	50280470	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	28241403	50280470	1024096	40	25044											
DCAF8L1	139425	broad.mit.edu	37	X	27998772	27998772	+	Missense_Mutation	SNP	C	C	G	rs139420081		TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chrX:27998772C>G	ENST00000441525.1	-	1	794	c.680G>C	c.(679-681)cGg>cCg	p.R227P		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	227								p.R227P(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGGCTTCTGCCGCACCCAGTC	0.517																																																1	Substitution - Missense(1)	ovary(1)	X											51	43	46					X																	27998772		2202	4300	6502	27908693	SO:0001583	missense	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.680G>C	X.37:g.27998772C>G	ENSP00000405222:p.Arg227Pro		27908693	B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219955	0.39201	.	.	ENSG00000226372	ENST00000441525	T	0.81078	-1.45	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.602490	0.15305	N	0.269393	T	0.82162	0.4977	M	0.77103	2.36	0.09310	N	1	D	0.53462	0.96	P	0.51415	0.669	T	0.71310	-0.4631	10	0.44086	T	0.13	-0.2257	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	227	A6NGE4	DC8L1_HUMAN	P	227	ENSP00000405222:R227P	ENSP00000405222:R227P	R	-	2	0	DCAF8L1	27908693	0.013000	0.17824	0.006000	0.13384	0.423000	0.31445	2.005000	0.40864	0.691000	0.31592	0.284000	0.19432	CGG		0.517	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		G	27998772	C	G	27998772	3	3	456	1	0	0	0	0	1	0	0	0	4277	652	23	3	1126	3	DCAF8L1	23	27998772	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08		27998772	127271788	41	25045											
BCOR	54880	broad.mit.edu	37	X	39916574	39916574	+	Splice_Site	SNP	C	C	A			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chrX:39916574C>A	ENST00000378444.4	-	11	4657	c.4429G>T	c.(4429-4431)Gaa>Taa	p.E1477*	BCOR_ENST00000397354.3_Splice_Site_p.E1443*|BCOR_ENST00000342274.4_Splice_Site_p.E1443*|BCOR_ENST00000378455.4_Splice_Site_p.E1425*|BCOR_ENST00000378463.1_Splice_Site_p.E320*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1477					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E1443*(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGACCACTTCCTGTGGGGAG	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		1	Substitution - Nonsense(1)	ovary(1)	X											87	58	68					X																	39916574		2202	4300	6502	39801518	SO:0001630	splice_region_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4429-1G>T	X.37:g.39916574C>A			39801518	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.555684|12.555684	0.99677|0.99677	.|.	.|.	ENSG00000183337|ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018|ENST00000427012	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74366	.|0.3707	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73861	.|-0.3849	.|3	0.87932|.	D|.	0|.	-21.7359|-21.7359	18.2232|18.2232	0.89907|0.89907	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	347;320;1425;1443;1477;1443;150|171	.|.	ENSP00000345923:E1443X|.	E|R	-|-	1|3	0|2	BCOR|BCOR	39801518|39801518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	7.487000|7.487000	0.81328|0.81328	2.240000|2.240000	0.73641|0.73641	0.600000|0.600000	0.82982|0.82982	GAA|AGG		0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	Nonsense_Mutation	A	39916574	C	A	39916574	5	1	456	1	0	0	0	0	0	0	1	0	1386	869	30	3	858	3	BCOR	23	39916574	Splice_Site	SNP	C	TCGA-61-2097-01A-02W-0722-08	11917802	39916574	115353986	42	25046											
HUWE1	10075	broad.mit.edu	37	X	53579651	53579651	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chrX:53579651C>T	ENST00000342160.3	-	61	9155	c.8698G>A	c.(8698-8700)Gtg>Atg	p.V2900M	HUWE1_ENST00000262854.6_Missense_Mutation_p.V2900M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2900					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.V2790M(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGCCTTGCACTTCCGCCACA	0.582																																																1	Substitution - Missense(1)	ovary(1)	X											55	55	55					X																	53579651		2203	4300	6503	53596376	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8698G>A	X.37:g.53579651C>T	ENSP00000340648:p.Val2900Met		53596376	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.361|3.361	-0.130467|-0.130467	0.06753|0.06753	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.38560	.|1.13;1.13	5.88|5.88	2.78|2.78	0.32641|0.32641	.|.	.|1.122650	.|0.06645	.|N	.|0.761856	T|T	0.25494|0.25494	0.0620|0.0620	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999989|0.999989	.|B;B	.|0.31351	.|0.214;0.32	.|B;B	.|0.34138	.|0.094;0.176	T|T	0.27054|0.27054	-1.0085|-1.0085	5|10	.|0.48119	.|T	.|0.1	.|.	5.9311|5.9311	0.19140|0.19140	0.1424:0.6337:0.1362:0.0877|0.1424:0.6337:0.1362:0.0877	.|.	.|2900;2900	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	N|M	1933|2900	.|ENSP00000340648:V2900M;ENSP00000262854:V2900M	.|ENSP00000262854:V2900M	S|V	-|-	2|1	0|0	HUWE1|HUWE1	53596376|53596376	0.613000|0.613000	0.27009|0.27009	0.830000|0.830000	0.32933|0.32933	0.222000|0.222000	0.24845|0.24845	1.326000|1.326000	0.33735|0.33735	1.236000|1.236000	0.43740|0.43740	0.600000|0.600000	0.82982|0.82982	AGT|GTG		0.582	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53579651	C	T	53579651	3	4	456	1	0	0	0	0	1	0	0	0	7461	565	20	2	4518	2	HUWE1	23	53579651	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	13663077	53579651	101690909	43	25047											
HTR2C	3358	broad.mit.edu	37	X	114141607	114141607	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chrX:114141607C>G	ENST00000276198.1	+	6	1734	c.1006C>G	c.(1006-1008)Ctt>Gtt	p.L336V	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L336V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	336					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L336F(1)|p.L336V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCTGTCTGTTCTTTGTGAGAA	0.373																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	X											190	172	178					X																	114141607		2203	4300	6503	114047863	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1006C>G	X.37:g.114141607C>G	ENSP00000276198:p.Leu336Val		114047863	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641714	0.29157	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.39787	1.06;1.06	5.14	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.074991	0.56097	D	0.000038	T	0.31857	0.0810	N	0.17872	0.535	0.80722	D	1	P	0.41597	0.756	P	0.46885	0.53	T	0.04495	-1.0947	10	0.36615	T	0.2	.	7.821	0.29288	0.1601:0.7449:0.0:0.0949	.	336	P28335	5HT2C_HUMAN	V	336	ENSP00000276198:L336V;ENSP00000361019:L336V	ENSP00000276198:L336V	L	+	1	0	HTR2C	114047863	1.000000	0.71417	0.941000	0.38009	0.620000	0.37586	3.974000	0.56852	1.079000	0.41038	0.468000	0.43344	CTT		0.373	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		G	114141607	C	G	114141607	3	3	456	1	0	0	0	0	1	0	0	0	7443	913	32	3	1020	3	HTR2C	23	114141607	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	60561956	114141607	41128953	44	25048											
DDX26B	203522	broad.mit.edu	37	X	134706896	134706896	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2097-01A-02W-0722-08	TCGA-61-2097-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0764a7bf-1525-427a-b7c6-dddaf06d0e97	feb1104c-6bd9-4277-a599-478d60363563	g.chrX:134706896C>T	ENST00000370752.4	+	11	1778	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	482								p.L482F(1)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAACTGCACTTAGACTGAC	0.333																																																1	Substitution - Missense(1)	ovary(1)	X											73	75	74					X																	134706896		2203	4300	6503	134534562	SO:0001583	missense	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1444C>T	X.37:g.134706896C>T	ENSP00000359788:p.Leu482Phe		134534562	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.446230	0.01089	.	.	ENSG00000165359	ENST00000370752	T	0.33865	1.39	5.35	3.48	0.39840	.	0.715528	0.14112	N	0.340629	T	0.30166	0.0756	L	0.47716	1.5	0.09310	N	1	P;B	0.39576	0.679;0.356	B;B	0.37989	0.262;0.078	T	0.14309	-1.0477	10	0.51188	T	0.08	5.5359	7.5773	0.27944	0.2641:0.6525:0.0:0.0834	.	482;482	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	F	482	ENSP00000359788:L482F	ENSP00000359788:L482F	L	+	1	0	DDX26B	134534562	0.006000	0.16342	0.033000	0.17914	0.027000	0.11550	0.787000	0.26858	1.149000	0.42402	0.594000	0.82650	CTT		0.333	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		T	134706896	C	T	134706896	3	4	456	1	0	0	0	0	1	0	0	0	4353	565	20	2	1486	2	DDX26B	23	134706896	Missense_Mutation	SNP	C	TCGA-61-2097-01A-02W-0722-08	20565289	134706896	20563664	45	25049											
HECTD3	79654	broad.mit.edu	37	1	45475345	45475345	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr1:45475345T>C	ENST00000372172.4	-	5	841	c.770A>G	c.(769-771)aAc>aGc	p.N257S	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	257	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.N257S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GCAGGACACGTTGAACTCCTC	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											60	59	59					1																	45475345		2119	4213	6332	45247932	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.770A>G	1.37:g.45475345T>C	ENSP00000361245:p.Asn257Ser		45247932	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446328	0.25987	.	.	ENSG00000126107	ENST00000372172	T	0.71103	-0.54	4.9	4.9	0.64082	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	1.365760	0.04597	N	0.397844	T	0.54127	0.1839	N	0.04636	-0.2	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.02339	-1.1174	10	0.18276	T	0.48	.	14.8076	0.69968	0.0:0.0:0.0:1.0	.	257	Q5T447	HECD3_HUMAN	S	257	ENSP00000361245:N257S	ENSP00000361245:N257S	N	-	2	0	HECTD3	45247932	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.799000	0.47892	1.965000	0.57142	0.460000	0.39030	AAC		0.582	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		C	45475345	T	C	45475345	3	2	457	1	0	0	0	0	1	0	0	0	7041	1725	60	4	1883	4	HECTD3	1	45475345	Missense_Mutation	SNP	T	TCGA-61-2101-01A-01W-0722-08		45475345	203775276	1	25050											
KPRP	448834	broad.mit.edu	37	1	152732622	152732622	+	Silent	SNP	C	C	T			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr1:152732622C>T	ENST00000606109.1	+	1	586	c.558C>T	c.(556-558)ggC>ggT	p.G186G	KPRP_ENST00000368773.1_Silent_p.G186G			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	186	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G186G(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTATCAAGGCTCCTATAGCA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	1											140	138	139					1																	152732622		2203	4300	6503	150999246	SO:0001819	synonymous_variant	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.558C>T	1.37:g.152732622C>T			150999246		Silent	SNP	ENST00000606109.1	37	CCDS30862.1																																																																																				0.562	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		T	152732622	C	T	152732622	2	4	457	1	0	0	0	0	0	0	0	1	8436	784	28	2		2	KPRP	1	152732622	Silent	SNP	C	TCGA-61-2101-01A-01W-0722-08	107257277	152732622	96517999	2	25051											
OR2L13	284521	broad.mit.edu	37	1	248263372	248263372	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr1:248263372G>A	ENST00000358120.2	+	2	840	c.695G>A	c.(694-696)gGg>gAg	p.G232E	OR2L13_ENST00000366478.2_Missense_Mutation_p.G232E			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G232E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCAAAGGAGGGGAGAAAAAAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	1											137	132	133					1																	248263372		2203	4300	6503	246329995	SO:0001583	missense	284521			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.695G>A	1.37:g.248263372G>A	ENSP00000350836:p.Gly232Glu		246329995	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	9.872	1.199328	0.22121	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00287	8.29;8.29	3.95	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000322	T	0.00724	0.0024	M	0.92412	3.305	0.09310	N	1	D	0.76494	0.999	D	0.69307	0.963	T	0.26710	-1.0095	10	0.72032	D	0.01	.	8.0575	0.30614	0.204:0.0:0.796:0.0	.	232	Q8N349	OR2LD_HUMAN	E	232	ENSP00000355434:G232E;ENSP00000350836:G232E	ENSP00000350836:G232E	G	+	2	0	OR2L13	246329995	0.409000	0.25368	0.008000	0.14137	0.004000	0.04260	3.171000	0.50824	0.836000	0.34901	0.455000	0.32223	GGG		0.438	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		A	248263372	G	A	248263372	3	1	457	1	0	0	0	0	1	0	0	0	11006	1232	43	2	697	2	OR2L13	1	248263372	Missense_Mutation	SNP	G	TCGA-61-2101-01A-01W-0722-08	95530750	248263372	987249	3	25052											
CCDC85A	114800	broad.mit.edu	37	2	56599594	56599594	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr2:56599594G>A	ENST00000407595.2	+	4	1935	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	478								p.R478Q(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGAATAGGACGATGCCTGCCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											40	44	43					2																	56599594		2000	4168	6168	56453098	SO:0001583	missense	114800			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1433G>A	2.37:g.56599594G>A	ENSP00000384040:p.Arg478Gln		56453098		Missense_Mutation	SNP	ENST00000407595.2	37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715901	0.48622	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	4.96	0.65561	.	0.146062	0.29389	N	0.012291	T	0.23054	0.0557	N	0.08118	0	0.27568	N	0.94996	B	0.21147	0.052	B	0.10450	0.005	T	0.12344	-1.0551	9	0.36615	T	0.2	-42.6934	10.8874	0.46974	0.0863:0.0:0.9137:0.0	.	478	Q96PX6	CC85A_HUMAN	Q	478;67	.	ENSP00000384040:R478Q	R	+	2	0	CCDC85A	56453098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.489000	0.60309	1.482000	0.48325	0.591000	0.81541	CGA		0.522	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			A	56599594	G	A	56599594	3	1	457	1	0	0	0	0	1	0	0	0	2859	1058	37	1	1447	1	CCDC85A	2	56599594	Missense_Mutation	SNP	G	TCGA-61-2101-01A-01W-0722-08		56599594	186599779	4	25053											
TET3	200424	broad.mit.edu	37	2	74329292	74329292	+	Missense_Mutation	SNP	C	C	T	rs568566594		TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr2:74329292C>T	ENST00000409262.3	+	9	4972	c.4972C>T	c.(4972-4974)Cgc>Tgc	p.R1658C		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1658					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.R819C(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCTACAGCCGCTGGATCTA	0.672													C|||	1	0.000199681	0	0	5008	,	,		13033	0		0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	2											5	6	6					2																	74329292		2011	4098	6109	74182800	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4972C>T	2.37:g.74329292C>T	ENSP00000386869:p.Arg1658Cys		74182800	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515031	0.64634	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.15834	2.39	5.33	4.46	0.54185	.	0.242131	0.42294	N	0.000736	T	0.21590	0.0520	M	0.69823	2.125	0.80722	D	1	B	0.22541	0.071	B	0.12156	0.007	T	0.03493	-1.1031	10	0.62326	D	0.03	.	12.7885	0.57520	0.0:0.9205:0.0:0.0795	.	1658	O43151	TET3_HUMAN	C	1658;1542	ENSP00000386869:R1658C	ENSP00000233310:R1542C	R	+	1	0	TET3	74182800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.534000	0.60622	1.489000	0.48450	0.655000	0.94253	CGC		0.672	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			T	74329292	C	T	74329292	3	4	457	1	0	0	0	0	1	0	0	0	15771	652	23	1	5006	1	TET3	2	74329292	Missense_Mutation	SNP	C	TCGA-61-2101-01A-01W-0722-08	17729698	74329292	168870081	5	25054											
KBTBD8	84541	broad.mit.edu	37	3	67054290	67054290	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr3:67054290A>G	ENST00000417314.2	+	3	948	c.899A>G	c.(898-900)aAg>aGg	p.K300R	KBTBD8_ENST00000295568.4_Missense_Mutation_p.K274R|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	300						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.K274R(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CACTCAGGAAAGAAGCAAACA	0.433																																																1	Substitution - Missense(1)	ovary(1)	3											123	119	121					3																	67054290		2203	4300	6503	67136980	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.899A>G	3.37:g.67054290A>G	ENSP00000401878:p.Lys300Arg		67136980	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640515	0.47153	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.66280	-0.2;-0.2	4.58	4.58	0.56647	Kelch-type beta propeller (1);	0.000000	0.85682	U	0.000000	T	0.39306	0.1073	N	0.08118	0	0.49213	D	0.999764	B	0.27351	0.176	B	0.19666	0.026	T	0.28235	-1.0050	9	.	.	.	.	14.2294	0.65882	1.0:0.0:0.0:0.0	.	300	Q8NFY9	KBTB8_HUMAN	R	274;300	ENSP00000295568:K274R;ENSP00000401878:K300R	.	K	+	2	0	KBTBD8	67136980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.481000	0.81124	1.807000	0.52817	0.455000	0.32223	AAG		0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		G	67054290	A	G	67054290	3	3	457	1	0	0	0	0	1	0	0	0	7999	72	3	4	909	4	KBTBD8	3	67054290	Missense_Mutation	SNP	A	TCGA-61-2101-01A-01W-0722-08		67054290	130968140	6	25055											
TNPO1	3842	broad.mit.edu	37	5	72168473	72168473	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr5:72168473G>A	ENST00000337273.5	+	7	1030	c.604G>A	c.(604-606)Gct>Act	p.A202T	TNPO1_ENST00000454282.1_Missense_Mutation_p.A152T|TNPO1_ENST00000506351.2_Missense_Mutation_p.A194T|TNPO1_ENST00000447967.2_Silent_p.T113T|TNPO1_ENST00000523768.1_Missense_Mutation_p.A152T	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	202					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.A194T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TAGGTCTCACGCTGTTGCATG	0.328																																																1	Substitution - Missense(1)	ovary(1)	5											146	128	134					5																	72168473		2203	4300	6503	72204229	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.604G>A	5.37:g.72168473G>A	ENSP00000336712:p.Ala202Thr		72204229	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	35	5.454894	0.96223	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.25	5.25	0.73442	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89594	0.6760	M	0.93062	3.375	0.80722	D	1	D;D	0.76494	0.999;0.989	D;P	0.70716	0.97;0.614	D	0.91839	0.5482	10	0.87932	D	0	-14.3056	19.1933	0.93675	0.0:0.0:1.0:0.0	.	152;202	Q92973-3;Q92973	.;TNPO1_HUMAN	T	202;152;152;194	ENSP00000336712:A202T;ENSP00000398524:A152T;ENSP00000428899:A152T;ENSP00000425118:A194T	ENSP00000336712:A202T	A	+	1	0	TNPO1	72204229	1.000000	0.71417	0.977000	0.42913	0.969000	0.65631	9.444000	0.97578	2.626000	0.88956	0.591000	0.81541	GCT		0.328	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		A	72168473	G	A	72168473	3	1	457	1	0	0	0	0	1	0	0	0	16335	1087	38	1	630	1	TNPO1	5	72168473	Missense_Mutation	SNP	G	TCGA-61-2101-01A-01W-0722-08		72168473	108746787	7	25056											
ETF1	2107	broad.mit.edu	37	5	137854397	137854397	+	Silent	SNP	G	G	T			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr5:137854397G>T	ENST00000360541.5	-	3	467	c.246C>A	c.(244-246)ctC>ctA	p.L82L	ETF1_ENST00000514005.1_5'UTR|ETF1_ENST00000503014.1_Silent_p.L68L|ETF1_ENST00000499810.2_Silent_p.L49L	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	82					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.L82L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TATAAAGTTTGAGTCTTTGTT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	5											173	173	173					5																	137854397		2203	4300	6503	137882296	SO:0001819	synonymous_variant	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.246C>A	5.37:g.137854397G>T			137882296	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Silent	SNP	ENST00000360541.5	37	CCDS4207.1																																																																																				0.388	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		T	137854397	G	T	137854397	2	4	457	1	0	0	0	0	0	0	0	1	5268	1277	45	3		3	ETF1	5	137854397	Silent	SNP	G	TCGA-61-2101-01A-01W-0722-08	65685924	137854397	43060863	8	25057											
KCTD16	57528	broad.mit.edu	37	5	143853578	143853578	+	Silent	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr5:143853578G>A	ENST00000507359.3	+	3	2279	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	KCTD16_ENST00000512467.1_Silent_p.E396E	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	396					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.E396E(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGGAGCTGGAGAAATGTATCC	0.408																																																1	Substitution - coding silent(1)	ovary(1)	5											60	71	67					5																	143853578		2200	4300	6500	143833771	SO:0001819	synonymous_variant	57528			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1188G>A	5.37:g.143853578G>A			143833771	Q9P2M9	Silent	SNP	ENST00000507359.3	37	CCDS34260.1																																																																																				0.408	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		A	143853578	G	A	143853578	2	1	457	1	0	0	0	0	0	0	0	1	8103	933	33	2		2	KCTD16	5	143853578	Silent	SNP	G	TCGA-61-2101-01A-01W-0722-08	5999181	143853578	37061682	9	25058											
ABCC10	89845	broad.mit.edu	37	6	43415478	43415478	+	Silent	SNP	G	G	A	rs201628117	byFrequency	TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr6:43415478G>A	ENST00000372530.4	+	18	3977	c.3762G>A	c.(3760-3762)gcG>gcA	p.A1254A	ABCC10_ENST00000244533.3_Silent_p.A1226A	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1254	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A1226A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGGTGTTGGCGTACCGGCCAG	0.657													G|||	2	0.000399361	0	0.0029	5008	,	,		17578	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	6											143	149	147					6																	43415478		2203	4300	6503	43523456	SO:0001819	synonymous_variant	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3762G>A	6.37:g.43415478G>A			43523456	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	CCDS56430.1																																																																																				0.657	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		A	43415478	G	A	43415478	2	1	457	1	0	0	0	0	0	0	0	1	50	1132	40	1		1	ABCC10	6	43415478	Silent	SNP	G	TCGA-61-2101-01A-01W-0722-08		43415478	127699589	10	25059											
TBX18	9096	broad.mit.edu	37	6	85472351	85472351	+	Silent	SNP	C	C	T			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr6:85472351C>T	ENST00000369663.5	-	2	745	c.408G>A	c.(406-408)ccG>ccA	p.P136P	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	136					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P136P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCGGGGCCTGCGGCGAGGGCA	0.687																																																1	Substitution - coding silent(1)	ovary(1)	6											36	43	41					6																	85472351		2201	4294	6495	85529070	SO:0001819	synonymous_variant	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.408G>A	6.37:g.85472351C>T			85529070	A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	CCDS34495.1																																																																																				0.687	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		T	85472351	C	T	85472351	2	4	457	1	0	0	0	0	0	0	0	1	15653	755	27	1		1	TBX18	6	85472351	Silent	SNP	C	TCGA-61-2101-01A-01W-0722-08	42056873	85472351	85642716	11	25060											
ANKRD6	22881	broad.mit.edu	37	6	90323541	90323541	+	Missense_Mutation	SNP	C	C	T	rs369598670		TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr6:90323541C>T	ENST00000522441.1	+	7	1188	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	ANKRD6_ENST00000485637.1_Missense_Mutation_p.R183C|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R183C|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R183C|ANKRD6_ENST00000369408.5_Missense_Mutation_p.R183C|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R150C	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	183					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R183C(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CGTTGCTGCGCGCTATAATCA	0.443																																																1	Substitution - Missense(1)	ovary(1)	6						C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,3982		0,2,1990	115	112	113		547,547,547,448,547	4.7	1	6		113	0,8342		0,0,4171	no	missense,missense,missense,missense,missense	ANKRD6	NM_001242809.1,NM_001242811.1,NM_001242813.1,NM_001242814.1,NM_014942.4	180,180,180,180,180	0,2,6161	TT,TC,CC		0.0,0.0502,0.0162	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	183/728,183/728,183/693,150/664,183/723	90323541	2,12324	1992	4171	6163	90380262	SO:0001583	missense	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.547C>T	6.37:g.90323541C>T	ENSP00000430985:p.Arg183Cys		90380262	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768098	0.90020	5.02E-4	0.0	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000485637;ENST00000520793	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.2	4.66	4.66	0.58398	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000028	T	0.76364	0.3977	M	0.62723	1.935	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;0.999;1.0	T	0.76615	-0.2894	10	0.51188	T	0.08	-17.7733	18.1135	0.89543	0.0:1.0:0.0:0.0	.	150;183;183;183	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	C	183;183;183;183;183;150	ENSP00000358416:R183C;ENSP00000345767:R183C;ENSP00000396771:R183C;ENSP00000430985:R183C;ENSP00000430954:R183C;ENSP00000429782:R150C	ENSP00000345767:R183C	R	+	1	0	ANKRD6	90380262	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	7.036000	0.76524	2.577000	0.86979	0.655000	0.94253	CGC		0.443	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			T	90323541	C	T	90323541	3	4	457	1	0	0	0	0	1	0	0	0	685	768	27	1	569	1	ANKRD6	6	90323541	Missense_Mutation	SNP	C	TCGA-61-2101-01A-01W-0722-08	4851190	90323541	80791526	12	25061											
ETV1	2115	broad.mit.edu	37	7	13971229	13971229	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr7:13971229G>A	ENST00000430479.1	-	9	1367	c.700C>T	c.(700-702)Cca>Tca	p.P234S	ETV1_ENST00000405218.2_Missense_Mutation_p.P234S|ETV1_ENST00000399357.3_Missense_Mutation_p.P131S|ETV1_ENST00000403527.1_Missense_Mutation_p.P194S|ETV1_ENST00000403685.1_Missense_Mutation_p.P216S|ETV1_ENST00000242066.5_Missense_Mutation_p.P216S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000420159.2_Missense_Mutation_p.P176S|ETV1_ENST00000405358.4_Missense_Mutation_p.P248S|ETV1_ENST00000405192.2_Missense_Mutation_p.P234S|ETV1_ENST00000343495.5_Missense_Mutation_p.P216S	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	234					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P234S(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCATACACTGGGTCGTGGTAC	0.527			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	1	Substitution - Missense(1)	ovary(1)	7											129	126	127					7																	13971229		2011	4174	6185	13937754	SO:0001583	missense	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.700C>T	7.37:g.13971229G>A	ENSP00000405327:p.Pro234Ser		13937754	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390474	0.95988	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	M	0.67700	2.07	0.80722	D	1	D;P;D;D;D;D;P;P	0.76494	0.989;0.92;0.998;0.998;0.999;0.999;0.948;0.935	D;P;D;D;D;D;P;P	0.91635	0.927;0.73;0.966;0.994;0.999;0.996;0.625;0.824	T	0.37314	-0.9711	10	0.46703	T	0.11	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	245;216;248;176;131;194;176;234	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	S	234;216;216;176;131;234;248;194;234;216;176;131	ENSP00000405327:P234S;ENSP00000242066:P216S;ENSP00000340853:P216S;ENSP00000411626:P176S;ENSP00000382293:P131S;ENSP00000385381:P234S;ENSP00000384085:P248S;ENSP00000384138:P194S;ENSP00000385551:P234S;ENSP00000385686:P216S;ENSP00000393078:P176S;ENSP00000394710:P131S	ENSP00000242066:P216S	P	-	1	0	ETV1	13937754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.932000	0.99384	0.644000	0.83932	CCA		0.527	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		A	13971229	G	A	13971229	3	1	457	1	0	0	0	0	1	0	0	0	5277	1232	43	2	757	2	ETV1	7	13971229	Missense_Mutation	SNP	G	TCGA-61-2101-01A-01W-0722-08		13971229	145167434	13	25062											
DGKB	1607	broad.mit.edu	37	7	14647099	14647099	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr7:14647099G>C	ENST00000403951.2	-	17	1815	c.1396C>G	c.(1396-1398)Cgt>Ggt	p.R466G	DGKB_ENST00000258767.5_Missense_Mutation_p.R466G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.R458G|DGKB_ENST00000444700.2_Missense_Mutation_p.R447G|DGKB_ENST00000402815.1_Missense_Mutation_p.R465G|DGKB_ENST00000406247.3_Missense_Mutation_p.R466G|DGKB_ENST00000399322.3_Missense_Mutation_p.R466G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	466	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R466G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TAAACCTGACGAGGATTTAAT	0.279																																																1	Substitution - Missense(1)	ovary(1)	7											51	48	49					7																	14647099		1786	4052	5838	14613624	SO:0001583	missense	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1396C>G	7.37:g.14647099G>C	ENSP00000385780:p.Arg466Gly		14613624	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816416	0.70912	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.6	5.6	0.85130	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.64571	0.2610	M	0.76002	2.32	0.54753	D	0.999981	D;D;D;D	0.89917	0.99;0.998;0.998;1.0	D;D;D;D	0.91635	0.96;0.988;0.995;0.999	T	0.65647	-0.6117	10	0.59425	D	0.04	.	14.772	0.69688	0.0:0.0:0.8556:0.1444	.	465;447;466;466	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	G	466;466;466;465;458;447;466	ENSP00000385780:R466G;ENSP00000382260:R466G;ENSP00000258767:R466G;ENSP00000384909:R465G;ENSP00000385031:R458G;ENSP00000388451:R447G;ENSP00000386066:R466G	ENSP00000258767:R466G	R	-	1	0	DGKB	14613624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.070000	0.57548	2.786000	0.95864	0.561000	0.74099	CGT		0.279	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		C	14647099	G	C	14647099	3	2	457	1	0	0	0	0	1	0	0	0	4466	1058	37	3	1073	3	DGKB	7	14647099	Missense_Mutation	SNP	G	TCGA-61-2101-01A-01W-0722-08	675870	14647099	144491564	14	25063											
CRCP	27297	broad.mit.edu	37	7	65579900	65579900	+	5'UTR	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr7:65579900G>A	ENST00000395326.3	+	0	309				AC068533.7_ENST00000450043.1_Intron|CRCP_ENST00000431089.2_Splice_Site_p.V29M|CRCP_ENST00000338592.5_5'UTR|CRCP_ENST00000398684.2_5'UTR	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)	p.?(1)		cervix(1)|kidney(1)|lung(4)	6						CAGCTGTGAAGTGTGAGGTTC	0.667																																																1	Unknown(1)	ovary(1)	7											107	101	103					7																	65579900		2203	4300	6503	65217335	SO:0001623	5_prime_UTR_variant	27297			AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"calcitonin gene-related peptide-receptor component protein"	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.-50G>A	7.37:g.65579900G>A			65217335	A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Missense_Mutation	SNP	ENST00000395326.3	37	CCDS5532.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764723	0.49574	.	.	ENSG00000241258	ENST00000431089	.	.	.	2.71	1.8	0.24995	.	.	.	.	.	T	0.48150	0.1484	.	.	.	0.19775	N	0.999952	D	0.54397	0.966	P	0.58331	0.837	T	0.25502	-1.0130	7	0.42905	T	0.14	.	4.8971	0.13755	0.1818:0.0:0.8182:0.0	.	29	B4E198	.	M	29	.	ENSP00000388653:V29M	V	+	1	0	CRCP	65217335	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.050000	0.11904	0.668000	0.31126	0.298000	0.19748	GTG		0.667	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251697.2	NM_014478		A	65579900	G	A	65579900	1	1	457	0	1	0	0	0	0	0	0	0	3852	1043	36	2		2	CRCP	7	65579900	5'UTR	SNP	G	TCGA-61-2101-01A-01W-0722-08	50932801	65579900	93558763	15	25064											
BAZ1B	9031	broad.mit.edu	37	7	72884711	72884711	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr7:72884711C>T	ENST00000339594.4	-	8	3034	c.2696G>A	c.(2695-2697)cGc>cAc	p.R899H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R899H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	899					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.R899H(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGAGTCCTGCGCATGACTAG	0.418																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											1	Substitution - Missense(1)	ovary(1)	7											187	159	169					7																	72884711		2203	4300	6503	72522647	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2696G>A	7.37:g.72884711C>T	ENSP00000342434:p.Arg899His		72522647	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075833	0.94000	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.64438	-0.1;-0.1	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75686	0.3883	L	0.56769	1.78	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.73017	-0.4115	10	0.32370	T	0.25	-15.9366	17.6718	0.88220	0.0:1.0:0.0:0.0	.	899	Q9UIG0	BAZ1B_HUMAN	H	899	ENSP00000342434:R899H;ENSP00000385442:R899H	ENSP00000342434:R899H	R	-	2	0	BAZ1B	72522647	1.000000	0.71417	0.969000	0.41365	0.927000	0.56198	7.376000	0.79658	2.440000	0.82611	0.557000	0.71058	CGC		0.418	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		T	72884711	C	T	72884711	3	4	457	1	0	0	0	0	1	0	0	0	1330	768	27	1	1803	1	BAZ1B	7	72884711	Missense_Mutation	SNP	C	TCGA-61-2101-01A-01W-0722-08	7304811	72884711	86253952	16	25065											
PRKDC	5591	broad.mit.edu	37	8	48734191	48734191	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr8:48734191T>C	ENST00000314191.2	-	66	9138	c.9082A>G	c.(9082-9084)Aaa>Gaa	p.K3028E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.K3028E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3029	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.K3029E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTCCAGATTTTATTTAGGTCT	0.343								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											1	Substitution - Missense(1)	ovary(1)	8											39	37	38					8																	48734191		1799	4068	5867	48896744	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9082A>G	8.37:g.48734191T>C	ENSP00000313420:p.Lys3028Glu		48896744	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	18.76	3.692923	0.68271	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.70282	-0.47;-0.47	5.4	5.4	0.78164	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.118539	0.56097	D	0.000031	D	0.82287	0.5004	M	0.76328	2.33	0.41915	D	0.990481	D;D	0.59767	0.975;0.986	P;D	0.63283	0.875;0.913	D	0.84210	0.0455	10	0.54805	T	0.06	.	15.7083	0.77602	0.0:0.0:0.0:1.0	.	3028;3029	E7EUY0;P78527	.;PRKDC_HUMAN	E	3028	ENSP00000313420:K3028E;ENSP00000345182:K3028E	ENSP00000313420:K3028E	K	-	1	0	PRKDC	48896744	1.000000	0.71417	0.861000	0.33841	0.425000	0.31504	5.886000	0.69743	2.167000	0.68274	0.528000	0.53228	AAA		0.343	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		C	48734191	T	C	48734191	3	2	457	1	0	0	0	0	1	0	0	0	12524	1763	61	4	3389	4	PRKDC	8	48734191	Missense_Mutation	SNP	T	TCGA-61-2101-01A-01W-0722-08		48734191	97629831	17	25066											
KIAA1161	57462	broad.mit.edu	37	9	34371740	34371740	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr9:34371740C>T	ENST00000297625.7	-	2	1325	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	401					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.R367H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTCGCCGAAGCGCGACGAGTT	0.672																																																1	Substitution - Missense(1)	ovary(1)	9											31	33	33					9																	34371740		2047	4163	6210	34361740	SO:0001583	missense	57462			AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1100G>A	9.37:g.34371740C>T	ENSP00000297625:p.Arg367His		34361740	Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37		.	.	.	.	.	.	.	.	.	.	C	9.739	1.164384	0.21538	.	.	ENSG00000164976	ENST00000297625	T	0.42131	0.98	5.36	2.5	0.30297	Glycoside hydrolase, superfamily (1);	0.323527	0.34628	N	0.003804	T	0.12135	0.0295	N	0.03608	-0.345	0.21527	N	0.99966	P	0.38827	0.649	B	0.32022	0.139	T	0.06232	-1.0838	10	0.15499	T	0.54	-5.342	1.2192	0.01921	0.1829:0.4123:0.2155:0.1893	.	401	Q6NSJ0	K1161_HUMAN	H	367	ENSP00000297625:R367H	ENSP00000297625:R367H	R	-	2	0	KIAA1161	34361740	0.997000	0.39634	0.577000	0.28562	0.354000	0.29330	2.604000	0.46274	0.617000	0.30160	-0.372000	0.07161	CGC		0.672	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		T	34371740	C	T	34371740	3	4	457	1	0	0	0	0	1	0	0	0	8211	768	27	1	946	1	KIAA1161	9	34371740	Missense_Mutation	SNP	C	TCGA-61-2101-01A-01W-0722-08		34371740	106841691	18	25067											
PPYR1	5540	broad.mit.edu	37	10	47087274	47087274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr10:47087274G>A	ENST00000395716.1	+	2	576	c.491G>A	c.(490-492)tGg>tAg	p.W164*	NPY4R_ENST00000374312.1_Nonsense_Mutation_p.W164*			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	164					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.W164*(1)									GTGCTCATCTGGGTCATTGCC	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	10											229	182	198					10																	47087274		2203	4300	6503	46507280	SO:0001587	stop_gained	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.491G>A	10.37:g.47087274G>A	ENSP00000379066:p.Trp164*		46507280	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Nonsense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	36	5.714602	0.96830	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0236	0.80522	0.0:0.0:1.0:0.0	.	.	.	.	X	164	.	ENSP00000363431:W164X	W	+	2	0	PPYR1	46507280	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.445000	0.97587	2.464000	0.83262	0.609000	0.83330	TGG		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			A	47087274	G	A	47087274	4	1	457	1	0	0	0	0	0	1	0	0	12419	1357	47	2	493	2	PPYR1	10	47087274	Nonsense_Mutation	SNP	G	TCGA-61-2101-01A-01W-0722-08		47087274	88447473	19	25068											
C10orf118	55088	broad.mit.edu	37	10	115917409	115917409	+	Silent	SNP	C	C	T			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr10:115917409C>T	ENST00000369287.3	-	3	929	c.663G>A	c.(661-663)gaG>gaA	p.E221E		NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		221								p.E221E(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTACGAAGAGCTCCTGATGCT	0.279																																																1	Substitution - coding silent(1)	ovary(1)	10											79	79	79					10																	115917409		2202	4298	6500	115907399	SO:0001819	synonymous_variant	55088																														ENST00000369287.3:c.663G>A	10.37:g.115917409C>T			115907399	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	37	CCDS7587.1																																																																																				0.279	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			T	115917409	C	T	115917409	2	4	457	1	0	0	0	0	0	0	0	1	1587	796	28	2		2	C10orf118	10	115917409	Silent	SNP	C	TCGA-61-2101-01A-01W-0722-08	68830135	115917409	19617338	20	25069											
OR52E4	390081	broad.mit.edu	37	11	5906140	5906140	+	Silent	SNP	T	T	C			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr11:5906140T>C	ENST00000316987.2	+	1	640	c.618T>C	c.(616-618)tcT>tcC	p.S206S		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S206S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGATTTCTTATATTATTG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	11											287	249	262					11																	5906140		2201	4296	6497	5862716	SO:0001819	synonymous_variant	390081			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.618T>C	11.37:g.5906140T>C			5862716	Q6IFG0	Silent	SNP	ENST00000316987.2	37	CCDS31401.1																																																																																				0.448	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		C	5906140	T	C	5906140	2	2	457	1	0	0	0	0	0	0	0	1	11116	1596	56	4		4	OR52E4	11	5906140	Silent	SNP	T	TCGA-61-2101-01A-01W-0722-08		5906140	129100376	21	25070											
NEU3	10825	broad.mit.edu	37	11	74705648	74705648	+	Silent	SNP	C	C	T			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr11:74705648C>T	ENST00000544263.1	+	3	260	c.90C>T	c.(88-90)ctC>ctT	p.L30L	NEU3_ENST00000294064.4_Silent_p.L63L|NEU3_ENST00000532963.1_Intron|NEU3_ENST00000534628.1_Silent_p.L63L|NEU3_ENST00000545272.1_Intron|NEU3_ENST00000531509.1_Silent_p.L63L|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000531619.1_Silent_p.L63L			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	30					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.L63L(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CAGCCCTGCTCTACATACCCC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	11											128	133	131					11																	74705648		2037	4182	6219	74383296	SO:0001819	synonymous_variant	10825			AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.90C>T	11.37:g.74705648C>T			74383296	A8K327|Q9NQE1	Silent	SNP	ENST00000544263.1	37																																																																																					0.562	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656		T	74705648	C	T	74705648	2	4	457	1	0	0	0	0	0	0	0	1	10343	900	32	2		2	NEU3	11	74705648	Silent	SNP	C	TCGA-61-2101-01A-01W-0722-08	68799508	74705648	60300868	22	25071											
AEBP2	121536	broad.mit.edu	37	12	19593257	19593257	+	Silent	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr12:19593257G>A	ENST00000398864.3	+	1	650	c.624G>A	c.(622-624)gaG>gaA	p.E208E	AEBP2_ENST00000266508.9_Silent_p.E208E|AEBP2_ENST00000541908.1_Intron|AEBP2_ENST00000360995.4_5'Flank	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	208	Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|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)|transcription corepressor activity (GO:0003714)	p.E208E(1)		ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GCAGCTTGGAGATGTCGTCGG	0.682																																																1	Substitution - coding silent(1)	ovary(1)	12											25	30	28					12																	19593257		1620	3676	5296	19484524	SO:0001819	synonymous_variant	121536				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.624G>A	12.37:g.19593257G>A			19484524	Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	ENST00000398864.3	37	CCDS44841.1																																																																																				0.682	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		A	19593257	G	A	19593257	2	1	457	1	0	0	0	0	0	0	0	1	350	933	33	2		2	AEBP2	12	19593257	Silent	SNP	G	TCGA-61-2101-01A-01W-0722-08		19593257	114258638	23	25072											
VPS18	57617	broad.mit.edu	37	15	41191655	41191655	+	Silent	SNP	C	C	T			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr15:41191655C>T	ENST00000220509.5	+	4	978	c.639C>T	c.(637-639)ggC>ggT	p.G213G	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	213					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.G213G(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCGAGCGGGGCCCTGATGGGC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	15											59	63	62					15																	41191655		2203	4300	6503	38978947	SO:0001819	synonymous_variant	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.639C>T	15.37:g.41191655C>T			38978947	Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	CCDS10069.1																																																																																				0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			T	41191655	C	T	41191655	2	4	457	1	0	0	0	0	0	0	0	1	17194	726	26	2		2	VPS18	15	41191655	Silent	SNP	C	TCGA-61-2101-01A-01W-0722-08		41191655	61339737	24	25073											
ARNT2	9915	broad.mit.edu	37	15	80800500	80800500	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr15:80800500G>A	ENST00000303329.4	+	6	791	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	ARNT2_ENST00000527771.1_Missense_Mutation_p.R198Q|ARNT2_ENST00000533983.1_Missense_Mutation_p.R198Q	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	209	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R209Q(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTCTTAGGCCGGATCTTGGAC	0.552																																																1	Substitution - Missense(1)	ovary(1)	15											101	80	87					15																	80800500		2203	4300	6503	78587555	SO:0001583	missense	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.626G>A	15.37:g.80800500G>A	ENSP00000307479:p.Arg209Gln		78587555	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982234	0.93044	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.06371	3.31	4.02	4.02	0.46733	PAS (1);PAS fold (1);	0.610700	0.17006	N	0.190705	T	0.25531	0.0621	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.02933	-1.1092	10	0.87932	D	0	.	15.903	0.79397	0.0:0.0:1.0:0.0	.	209	Q9HBZ2	ARNT2_HUMAN	Q	198;209;209	ENSP00000307479:R209Q	ENSP00000307479:R209Q	R	+	2	0	ARNT2	78587555	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.475000	0.90417	2.053000	0.61076	0.289000	0.19496	CGG		0.552	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			A	80800500	G	A	80800500	3	1	457	1	0	0	0	0	1	0	0	0	966	1116	39	1	648	1	ARNT2	15	80800500	Missense_Mutation	SNP	G	TCGA-61-2101-01A-01W-0722-08	39608845	80800500	21730892	25	25074											
ZC3H7A	29066	broad.mit.edu	37	16	11857502	11857502	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr16:11857502T>C	ENST00000396516.2	-	15	2031	c.1834A>G	c.(1834-1836)Att>Gtt	p.I612V	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.I612V			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	612						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I612V(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCTCGCAAAATGTGGACAAGG	0.299																																																1	Substitution - Missense(1)	ovary(1)	16											109	99	102					16																	11857502		2197	4300	6497	11765003	SO:0001583	missense	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1834A>G	16.37:g.11857502T>C	ENSP00000379773:p.Ile612Val		11765003	D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816935	0.32145	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.10099	2.91;2.91	5.33	5.33	0.75918	.	0.096556	0.64402	D	0.000001	T	0.11793	0.0287	L	0.41573	1.285	0.80722	D	1	P;P	0.40302	0.712;0.589	B;B	0.40375	0.327;0.175	T	0.13656	-1.0501	10	0.27082	T	0.32	.	14.7766	0.69736	0.0:0.0:0.0:1.0	.	333;612	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	V	612	ENSP00000347999:I612V;ENSP00000379773:I612V	ENSP00000347999:I612V	I	-	1	0	ZC3H7A	11765003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.000000	0.63940	2.137000	0.66172	0.533000	0.62120	ATT		0.299	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		C	11857502	T	C	11857502	3	2	457	1	0	0	0	0	1	0	0	0	17572	1464	51	4	1113	4	ZC3H7A	16	11857502	Missense_Mutation	SNP	T	TCGA-61-2101-01A-01W-0722-08		11857502	78497251	26	25075											
FBXL19	54620	broad.mit.edu	37	16	30958164	30958164	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr16:30958164G>A	ENST00000380310.2	+	10	1959	c.1801G>A	c.(1801-1803)Gcc>Acc	p.A601T	ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000562319.1_Missense_Mutation_p.A581T|AC135048.13_ENST00000566056.1_RNA|FBXL19_ENST00000565690.1_Missense_Mutation_p.A465T|FBXL19_ENST00000338343.4_Missense_Mutation_p.A581T|ORAI3_ENST00000562699.1_5'Flank|ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.A289T	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	601					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A431T(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCAGCTGAGCGCCCTGGACCT	0.682																																																1	Substitution - Missense(1)	ovary(1)	16											21	26	24					16																	30958164		2146	4246	6392	30865665	SO:0001583	missense	54620			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1801G>A	16.37:g.30958164G>A	ENSP00000369666:p.Ala601Thr		30865665	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.34|14.34	2.506851|2.506851	0.44558|0.44558	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000338343;ENST00000380310|ENST00000427128	T;T|.	0.29142|.	1.58;1.58|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.298226|.	0.29152|.	N|.	0.012994|.	T|T	0.18045|0.18045	0.0433|0.0433	N|N	0.05230|0.05230	-0.09|-0.09	0.27620|0.27620	N|N	0.948392|0.948392	P;B|.	0.48407|.	0.91;0.128|.	B;B|.	0.42653|.	0.394;0.005|.	T|T	0.12630|0.12630	-1.0540|-1.0540	10|5	0.25751|.	T|.	0.34|.	-10.4509|-10.4509	7.1438|7.1438	0.25570|0.25570	0.092:0.1753:0.7326:0.0|0.092:0.1753:0.7326:0.0	.|.	601;558|.	Q6PCT2;Q6PCT2-2|.	FXL19_HUMAN;.|.	T|H	581;601|492	ENSP00000339712:A581T;ENSP00000369666:A601T|.	ENSP00000339712:A581T|.	A|R	+|+	1|2	0|0	FBXL19|FBXL19	30865665|30865665	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.970000|0.970000	0.65996|0.65996	3.384000|3.384000	0.52478|0.52478	2.275000|2.275000	0.75901|0.75901	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.682	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		A	30958164	G	A	30958164	3	1	457	1	0	0	0	0	1	0	0	0	5715	1087	38	1	1839	1	FBXL19	16	30958164	Missense_Mutation	SNP	G	TCGA-61-2101-01A-01W-0722-08	19100662	30958164	59396589	27	25076											
TP53	7157	broad.mit.edu	37	17	7579423	7579432	+	Frame_Shift_Del	DEL	GGCTGGTGCA	GGCTGGTGCA	-	rs587782148		TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	GGCTGGTGCA	GGCTGGTGCA	-	-	GGCTGGTGCA	GGCTGGTGCA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr17:7579423_7579432delGGCTGGTGCA	ENST00000269305.4	-	4	444_453	c.255_264delTGCACCAGCC	c.(253-264)cctgcaccagccfs	p.PAPA85fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.PAPA85fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.PAPA85fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PAPA85fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PAPA85fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.PAPA85fs	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	85	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A88fs*32(3)|p.A76_S90del15(3)|p.P87Q(3)|p.G59fs*23(3)|p.S90fs*33(3)|p.A88fs*35(2)|p.A86fs*64(1)|p.P85fs*59(1)|p.P85fs*58(1)|p.A86V(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.S33fs*23(1)|p.P87P(1)|p.A86fs*59(1)|p.A86fs*34(1)|p.P87fs*54(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.P89fs*60(1)|p.A83fs*35(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)	GCCAGGAGGGGGCTGGTGCAGGGGCCGCCG	0.619		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"	43	Deletion - Frameshift(24)|Whole gene deletion(8)|Deletion - In frame(4)|Substitution - Missense(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|ovary(4)|prostate(4)|bone(4)|central_nervous_system(3)|urinary_tract(3)|breast(3)|large_intestine(1)|stomach(1)|soft_tissue(1)|endometrium(1)	17																																								7520157	SO:0001589	frameshift_variant	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.255_264delTGCACCAGCC	17.37:g.7579423_7579432delGGCTGGTGCA	ENSP00000269305:p.Pro85fs		7520148	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.619	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7579432	GGCTGGTGCA	-	7579423	7	5	457	1	0	1	0	1	0	0	0	0	16381	1219	43	0	1038	0	TP53	17	7579423	Frame_Shift_Del	DEL	GGCTGGTGCA	TCGA-61-2101-01A-01W-0722-08		7579423	73615787	28	25077											
FAM83G	644815	broad.mit.edu	37	17	18874744	18874744	+	Silent	SNP	C	C	T	rs201696809		TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr17:18874744C>T	ENST00000388995.6	-	6	2623	c.2400G>A	c.(2398-2400)acG>acA	p.T800T	SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Silent_p.T800T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Silent_p.T800T			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	800					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.T800T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCTACCGCCCGTCCTGGCCT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	17											58	71	67					17																	18874744		2106	4191	6297	18815469	SO:0001819	synonymous_variant	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2400G>A	17.37:g.18874744C>T			18815469	Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	CCDS42276.1																																																																																				0.632	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			T	18874744	C	T	18874744	2	4	457	1	0	0	0	0	0	0	0	1	5639	639	23	1		1	FAM83G	17	18874744	Silent	SNP	C	TCGA-61-2101-01A-01W-0722-08	11295321	18874744	62320466	29	25078											
UNC45B	146862	broad.mit.edu	37	17	33475450	33475450	+	Splice_Site	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr17:33475450G>A	ENST00000268876.5	+	2	265	c.168G>A	c.(166-168)acG>acA	p.T56T	UNC45B_ENST00000394570.2_Splice_Site_p.T56T|UNC45B_ENST00000433649.1_Splice_Site_p.T56T|UNC45B_ENST00000591048.1_Splice_Site_p.T56T|UNC45B_ENST00000378449.1_Splice_Site_p.T56T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	56					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T56T(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCTGAAAACGGTCTGGGGCA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	17											36	36	36					17																	33475450		2203	4300	6503	30499563	SO:0001630	splice_region_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.168+1G>A	17.37:g.33475450G>A			30499563	Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																				0.627	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	Silent	A	33475450	G	A	33475450	5	1	457	1	0	0	0	0	0	0	1	0	16989	1130	39	1	170	1	UNC45B	17	33475450	Splice_Site	SNP	G	TCGA-61-2101-01A-01W-0722-08	14600706	33475450	47719760	30	25079											
DDX5	1655	broad.mit.edu	37	17	62499129	62499129	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr17:62499129T>C	ENST00000225792.5	-	8	1299	c.898A>G	c.(898-900)Ata>Gta	p.I300V	MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.I221V|DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Missense_Mutation_p.I300V	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	300	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)	p.I300V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCAATGTTTATATGAATATAG	0.378			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	1	Substitution - Missense(1)	ovary(1)	17											137	133	134					17																	62499129		2203	4300	6503	59929591	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.898A>G	17.37:g.62499129T>C	ENSP00000225792:p.Ile300Val		59929591	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539444	0.45176	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.91	5.91	0.95273	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	N	0.11870	0.19	0.80722	D	1	B;B;B;B	0.21309	0.007;0.054;0.026;0.026	B;B;B;B	0.24701	0.021;0.055;0.04;0.04	T	0.29274	-1.0017	9	0.22706	T	0.39	-13.5598	16.3483	0.83171	0.0:0.0:0.0:1.0	.	221;300;289;300	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	V	300;230;289	.	ENSP00000225792:I289V	I	-	1	0	DDX5	59929591	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.505000	0.81655	2.254000	0.74563	0.533000	0.62120	ATA		0.378	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		C	62499129	T	C	62499129	3	2	457	1	0	0	0	0	1	0	0	0	4367	1406	49	4	970	4	DDX5	17	62499129	Missense_Mutation	SNP	T	TCGA-61-2101-01A-01W-0722-08	29023679	62499129	18696081	31	25080											
DSG3	1830	broad.mit.edu	37	18	29055915	29055915	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr18:29055915T>G	ENST00000257189.4	+	16	2775	c.2692T>G	c.(2692-2694)Tgc>Ggc	p.C898G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	898					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C898G(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTTGTTAAGTGCCAGACTTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	18											126	123	124					18																	29055915		2203	4300	6503	27309913	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2692T>G	18.37:g.29055915T>G	ENSP00000257189:p.Cys898Gly		27309913	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	T	8.902	0.956529	0.18507	.	.	ENSG00000134757	ENST00000257189	T	0.58797	0.31	5.54	-1.39	0.08997	.	0.623245	0.15000	N	0.286190	T	0.24470	0.0593	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12319	-1.0552	10	0.22706	T	0.39	.	3.3926	0.07294	0.1089:0.1035:0.3909:0.3967	.	898	P32926	DSG3_HUMAN	G	898	ENSP00000257189:C898G	ENSP00000257189:C898G	C	+	1	0	DSG3	27309913	0.000000	0.05858	0.007000	0.13788	0.210000	0.24377	-1.971000	0.01503	-0.122000	0.11766	0.533000	0.62120	TGC		0.507	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		G	29055915	T	G	29055915	3	3	457	1	0	0	0	0	1	0	0	0	4778	1696	59	5	2754	5	DSG3	18	29055915	Missense_Mutation	SNP	T	TCGA-61-2101-01A-01W-0722-08		29055915	49021333	32	25081											
TPM4	7171	broad.mit.edu	37	19	16178452	16178452	+	Silent	SNP	G	G	A			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr19:16178452G>A	ENST00000344824.6	+	1	136	c.18G>A	c.(16-18)aaG>aaA	p.K6K	CTD-2231E14.4_ENST00000585520.1_lincRNA|TPM4_ENST00000538887.1_Silent_p.K6K	NM_001145160.1	NP_001138632.1	P67936	TPM4_HUMAN	tropomyosin 4	0					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.K6K(1)	TPM4/ALK(12)	breast(1)|large_intestine(3)	4						CCATCAAGAAGAAAATGCAGA	0.647			T	ALK	ALCL																																		Dom	yes		19	19p13.1	7171	tropomyosin 4		L	1	Substitution - coding silent(1)	ovary(1)	19											109	102	104					19																	16178452		1568	3582	5150	16039452	SO:0001819	synonymous_variant	7171				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000344824.6:c.18G>A	19.37:g.16178452G>A			16039452	P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Silent	SNP	ENST00000344824.6	37	CCDS46007.1																																																																																				0.647	TPM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459672.2	NM_003290		A	16178452	G	A	16178452	2	1	457	1	0	0	0	0	0	0	0	1	16408	933	33	2		2	TPM4	19	16178452	Silent	SNP	G	TCGA-61-2101-01A-01W-0722-08		16178452	42950531	33	25082											
ZNF831	128611	broad.mit.edu	37	20	57782030	57782030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-2101-01A-01W-0722-08	TCGA-61-2101-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fc24cf59-fb37-47dc-88d4-a10a466acfb1	d0a495b2-b470-47d0-8a25-2fa3d41421b6	g.chr20:57782030C>T	ENST00000371030.2	+	3	3946	c.3946C>T	c.(3946-3948)Cga>Tga	p.R1316*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1316							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R1316*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AACCTGGGTGCGAAGAAGAAG	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	20											78	84	82					20																	57782030		1937	4137	6074	57215425	SO:0001587	stop_gained	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3946C>T	20.37:g.57782030C>T	ENSP00000360069:p.Arg1316*		57215425	Q5TDR4|Q8TCP0	Nonsense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	41	8.812320	0.98962	.	.	ENSG00000124203	ENST00000371030	.	.	.	5.44	4.49	0.54785	.	1.434950	0.04290	N	0.345272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-1.112	11.6326	0.51185	0.1777:0.8223:0.0:0.0	.	.	.	.	X	1316	.	ENSP00000360069:R1316X	R	+	1	2	ZNF831	57215425	0.021000	0.18746	0.014000	0.15608	0.011000	0.07611	1.946000	0.40283	1.267000	0.44247	0.655000	0.94253	CGA		0.532	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57782030	C	T	57782030	4	4	457	1	0	0	0	0	0	1	0	0	18185	760	27	1	3956	1	ZNF831	20	57782030	Nonsense_Mutation	SNP	C	TCGA-61-2101-01A-01W-0722-08		57782030	5243490	34	25083											
CELA2A	63036	broad.mit.edu	37	1	15793978	15793978	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:15793978A>G	ENST00000359621.4	+	7	762	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	246	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)	p.Y246C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGCAACTACTACCACAAGCCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											99	91	94					1																	15793978		2203	4300	6503	15666565	SO:0001583	missense	63036				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.737A>G	1.37:g.15793978A>G	ENSP00000352639:p.Tyr246Cys		15666565	B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	CCDS157.1	.	.	.	.	.	.	.	.	.	.	A	6.776	0.512051	0.12944	.	.	ENSG00000142615	ENST00000359621	D	0.88586	-2.4	3.08	-1.76	0.08006	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.534222	0.16916	U	0.194293	D	0.85204	0.5643	N	0.12746	0.255	0.09310	N	1	D	0.64830	0.994	D	0.62955	0.909	T	0.78708	-0.2099	10	0.39692	T	0.17	.	11.6929	0.51527	0.3394:0.6606:0.0:0.0	.	246	P08217	CEL2A_HUMAN	C	246	ENSP00000352639:Y246C	ENSP00000352639:Y246C	Y	+	2	0	CELA2A	15666565	0.000000	0.05858	0.976000	0.42696	0.010000	0.07245	-0.149000	0.10204	-0.094000	0.12374	-0.867000	0.03001	TAC		0.617	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		G	15793978	A	G	15793978	3	3	458	1	0	0	0	0	1	0	0	0	3211	391	14	4	763	4	CELA2A	1	15793978	Missense_Mutation	SNP	A	TCGA-61-2102-01A-01W-0722-08		15793978	233456643	1	25084											
GRIK3	2899	broad.mit.edu	37	1	37346392	37346392	+	Silent	SNP	G	G	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:37346392G>A	ENST00000373091.3	-	3	409	c.393C>T	c.(391-393)ccC>ccT	p.P131P	GRIK3_ENST00000373093.4_Silent_p.P131P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	131					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.P131P(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCTGGATGTGGGGCACCTCCA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	1											195	173	180					1																	37346392		2203	4300	6503	37118979	SO:0001819	synonymous_variant	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.393C>T	1.37:g.37346392G>A			37118979	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	CCDS416.1																																																																																				0.627	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		A	37346392	G	A	37346392	2	1	458	1	0	0	0	0	0	0	0	1	6775	1219	43	2		2	GRIK3	1	37346392	Silent	SNP	G	TCGA-61-2102-01A-01W-0722-08	21552414	37346392	211904229	2	25085											
RPS8	6202	broad.mit.edu	37	1	45243434	45243434	+	Silent	SNP	C	C	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:45243434C>T	ENST00000396651.3	+	4	520	c.360C>T	c.(358-360)ccC>ccT	p.P120P	SNORD38A_ENST00000365161.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|RPS8_ENST00000485390.1_3'UTR|SNORD38B_ENST00000384690.1_RNA|RPS8_ENST00000372209.3_Silent_p.P100P|SNORD55_ENST00000581525.1_RNA|SNORD46_ENST00000364043.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8	120					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.P120P(1)		central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					ATGCGCTGCCCCTGGGCCGCA	0.572																																																1	Substitution - coding silent(1)	ovary(1)	1											49	45	47					1																	45243434		2203	4300	6503	45016021	SO:0001819	synonymous_variant	6202			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"S ribosomal proteins"	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.360C>T	1.37:g.45243434C>T			45016021	P09058|Q6IRL7	Silent	SNP	ENST00000396651.3	37	CCDS513.1																																																																																				0.572	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023439.1	NM_001012		T	45243434	C	T	45243434	2	4	458	1	0	0	0	0	0	0	0	1	13664	610	22	2		2	RPS8	1	45243434	Silent	SNP	C	TCGA-61-2102-01A-01W-0722-08	7897042	45243434	204007187	3	25086											
BEST4	266675	broad.mit.edu	37	1	45250854	45250854	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:45250854C>G	ENST00000372207.3	-	6	837	c.838G>C	c.(838-840)Gcc>Ccc	p.A280P		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	280						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.A280P(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					TCTCCCAGGGCTGGGGCTGGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											50	59	56					1																	45250854		2203	4300	6503	45023441	SO:0001583	missense	266675			AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17106	protein-coding gene	gene with protein product		607336	"vitelliform macular dystrophy 2-like 2"	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.838G>C	1.37:g.45250854C>G	ENSP00000361281:p.Ala280Pro		45023441	Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	37	CCDS514.1	.	.	.	.	.	.	.	.	.	.	C	2.253	-0.371159	0.05034	.	.	ENSG00000142959	ENST00000372207	D	0.98012	-4.66	4.77	-0.642	0.11486	.	0.718217	0.12651	N	0.450434	D	0.91264	0.7246	N	0.14661	0.345	0.09310	N	1	P	0.41131	0.739	B	0.38428	0.273	D	0.86881	0.2042	10	0.32370	T	0.25	-3.328	4.089	0.09960	0.0:0.4045:0.175:0.4205	.	280	Q8NFU0	BEST4_HUMAN	P	280	ENSP00000361281:A280P	ENSP00000361281:A280P	A	-	1	0	BEST4	45023441	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.257000	0.08745	0.009000	0.14813	0.655000	0.94253	GCC		0.612	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		G	45250854	C	G	45250854	3	3	458	1	0	0	0	0	1	0	0	0	1407	797	28	3	599	3	BEST4	1	45250854	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	7420	45250854	203999767	4	25087											
CDKN2C	1031	broad.mit.edu	37	1	51436162	51436162	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:51436162C>G	ENST00000262662.1	+	3	2156	c.122C>G	c.(121-123)gCg>gGg	p.A41G	CDKN2C_ENST00000396148.1_Missense_Mutation_p.A41G|CDKN2C_ENST00000371761.3_Missense_Mutation_p.A41G			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	41					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.A41G(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GGAAGGACTGCGCTGCAGGTT	0.458			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)		Rec	yes		1	1p32	1031	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"		"O, L"	12	Whole gene deletion(11)|Substitution - Missense(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(4)|thyroid(1)|ovary(1)	1											96	99	98					1																	51436162		2203	4300	6503	51208750	SO:0001583	missense	1031			BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.122C>G	1.37:g.51436162C>G	ENSP00000262662:p.Ala41Gly		51208750	Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	CCDS555.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.926000	0.73327	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.73047	-0.71;-0.71;-0.71	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89298	0.6675	H	0.95114	3.625	0.80722	D	1	D	0.65815	0.995	D	0.81914	0.995	D	0.92095	0.5683	10	0.87932	D	0	-6.842	18.9897	0.92786	0.0:1.0:0.0:0.0	.	41	P42773	CDN2C_HUMAN	G	41	ENSP00000262662:A41G;ENSP00000379452:A41G;ENSP00000360826:A41G	ENSP00000262662:A41G	A	+	2	0	CDKN2C	51208750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.648000	0.74359	2.714000	0.92807	0.655000	0.94253	GCG		0.458	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		G	51436162	C	G	51436162	3	3	458	1	0	0	0	0	1	0	0	0	3165	768	27	3	124	3	CDKN2C	1	51436162	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	6185308	51436162	197814459	5	25088											
NEXN	91624	broad.mit.edu	37	1	78383348	78383348	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:78383348G>T	ENST00000334785.7	+	3	309	c.125G>T	c.(124-126)aGg>aTg	p.R42M	NEXN_ENST00000294624.8_Missense_Mutation_p.R42M|NEXN_ENST00000457030.1_Missense_Mutation_p.R42M|NEXN_ENST00000330010.8_Intron	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.R42M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CAGAGAGCCAGGGAAGAAAGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											76	70	72					1																	78383348		1835	4085	5920	78155936	SO:0001583	missense	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.125G>T	1.37:g.78383348G>T	ENSP00000333938:p.Arg42Met		78155936		Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234786	0.79800	.	.	ENSG00000162614	ENST00000457030;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T	0.74632	-0.27;-0.86;-0.29;-0.45	5.28	5.28	0.74379	.	0.000000	0.53938	D	0.000041	D	0.83663	0.5303	M	0.65975	2.015	0.58432	D	0.999992	D	0.89917	1.0	D	0.85130	0.997	D	0.84932	0.0860	10	0.87932	D	0	-12.574	19.2723	0.94015	0.0:0.0:1.0:0.0	.	42	Q0ZGT2	NEXN_HUMAN	M	42	ENSP00000388048:R42M;ENSP00000294624:R42M;ENSP00000333938:R42M;ENSP00000411902:R42M	ENSP00000294624:R42M	R	+	2	0	NEXN	78155936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.235000	0.95353	2.618000	0.88619	0.609000	0.83330	AGG		0.383	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		T	78383348	G	T	78383348	3	4	458	1	0	0	0	0	1	0	0	0	10355	1000	35	3	131	3	NEXN	1	78383348	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	26947186	78383348	170867273	6	25089											
MCOLN2	255231	broad.mit.edu	37	1	85397190	85397190	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:85397190A>G	ENST00000370608.3	-	12	1464	c.1397T>C	c.(1396-1398)tTt>tCt	p.F466S	MCOLN2_ENST00000284027.5_Missense_Mutation_p.F438S	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	466					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F466S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAAGGTTGCAAACATGTCATC	0.388																																																1	Substitution - Missense(1)	ovary(1)	1											72	75	74					1																	85397190		2203	4300	6503	85169778	SO:0001583	missense	255231			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1397T>C	1.37:g.85397190A>G	ENSP00000359640:p.Phe466Ser		85169778	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050747	0.75960	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.74632	-0.86;-0.86	4.93	3.79	0.43588	Polycystin cation channel, PKD1/PKD2 (1);	0.048293	0.85682	D	0.000000	T	0.80618	0.4657	M	0.87180	2.865	0.58432	D	0.999999	D	0.56968	0.978	P	0.60012	0.867	T	0.83341	-0.0008	10	0.72032	D	0.01	-49.2802	10.8805	0.46935	0.8507:0.0:0.0:0.1493	.	466	Q8IZK6	MCLN2_HUMAN	S	466;438	ENSP00000359640:F466S;ENSP00000284027:F438S	ENSP00000284027:F438S	F	-	2	0	MCOLN2	85169778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.781000	0.68964	0.834000	0.34852	0.528000	0.53228	TTT		0.388	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		G	85397190	A	G	85397190	3	3	458	1	0	0	0	0	1	0	0	0	9396	14	1	4	315	4	MCOLN2	1	85397190	Missense_Mutation	SNP	A	TCGA-61-2102-01A-01W-0722-08	7013842	85397190	163853431	7	25090											
LRRC39	127495	broad.mit.edu	37	1	100626046	100626046	+	Silent	SNP	C	C	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:100626046C>T	ENST00000370137.1	-	4	393	c.195G>A	c.(193-195)ttG>ttA	p.L65L	LRRC39_ENST00000370138.1_Silent_p.L65L|LRRC39_ENST00000342895.3_Silent_p.L65L	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	65								p.L65L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTCTATCTTCAAAATGACTC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	1											170	167	168					1																	100626046		2203	4300	6503	100398634	SO:0001819	synonymous_variant	127495			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.195G>A	1.37:g.100626046C>T			100398634	B3KUD2|D3DT56|Q5VVK7	Silent	SNP	ENST00000370137.1	37	CCDS766.1																																																																																				0.388	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		T	100626046	C	T	100626046	2	4	458	1	0	0	0	0	0	0	0	1	8995	825	29	2		2	LRRC39	1	100626046	Silent	SNP	C	TCGA-61-2102-01A-01W-0722-08	15228856	100626046	148624575	8	25091											
CD101	9398	broad.mit.edu	37	1	117554416	117554416	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:117554416G>C	ENST00000256652.4	+	3	727	c.669G>C	c.(667-669)caG>caC	p.Q223H	CD101_ENST00000369470.1_Missense_Mutation_p.Q223H	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	223	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.Q223H(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGACGTACAGCTCAACAAAC	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											85	75	79					1																	117554416		2203	4300	6503	117355939	SO:0001583	missense	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.669G>C	1.37:g.117554416G>C	ENSP00000256652:p.Gln223His		117355939	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343309	0.24339	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.65178	-0.14;-0.14	5.57	-4.11	0.03928	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.608916	0.15180	N	0.276180	T	0.21427	0.0516	N	0.14661	0.345	0.09310	N	1	P	0.37612	0.602	P	0.45377	0.478	T	0.31971	-0.9924	10	0.49607	T	0.09	-6.3817	0.3432	0.00337	0.3446:0.2114:0.2287:0.2152	.	223	Q93033	IGSF2_HUMAN	H	223	ENSP00000256652:Q223H;ENSP00000358482:Q223H	ENSP00000256652:Q223H	Q	+	3	2	CD101	117355939	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	-0.066000	0.11598	-0.816000	0.04340	-0.218000	0.12543	CAG		0.507	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		C	117554416	G	C	117554416	3	2	458	1	0	0	0	0	1	0	0	0	2962	962	34	3	679	3	CD101	1	117554416	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	16928370	117554416	131696205	9	25092											
HMCN1	83872	broad.mit.edu	37	1	186034454	186034454	+	Missense_Mutation	SNP	G	G	A	rs199987140		TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:186034454G>A	ENST00000271588.4	+	49	7827	c.7598G>A	c.(7597-7599)cGt>cAt	p.R2533H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2533H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2533	Ig-like C2-type 23.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R2533H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTGGTGGCCGTTTTCTTCAA	0.458													G|||	1	0.000199681	0	0	5008	,	,		15102	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	1											80	75	77					1																	186034454		2203	4300	6503	184301077	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7598G>A	1.37:g.186034454G>A	ENSP00000271588:p.Arg2533His		184301077	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.90	1.776805	0.31411	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.53	0.195	0.15151	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.304446	0.42821	N	0.000650	T	0.42177	0.1191	N	0.21142	0.635	0.52501	D	0.999959	B	0.14805	0.011	B	0.14578	0.011	T	0.11717	-1.0576	10	0.21540	T	0.41	.	10.4292	0.44398	0.5057:0.0:0.4943:0.0	.	2533	Q96RW7	HMCN1_HUMAN	H	2533	ENSP00000271588:R2533H;ENSP00000356462:R2533H	ENSP00000271588:R2533H	R	+	2	0	HMCN1	184301077	1.000000	0.71417	0.987000	0.45799	0.717000	0.41224	1.835000	0.39181	-0.006000	0.14370	-0.367000	0.07326	CGT		0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186034454	G	A	186034454	3	1	458	1	0	0	0	0	1	0	0	0	7220	1145	40	1	7792	1	HMCN1	1	186034454	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	68480038	186034454	63216167	10	25093											
B3GALT2	8707	broad.mit.edu	37	1	193149686	193149686	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr1:193149686C>A	ENST00000367434.4	-	2	1762	c.1007G>T	c.(1006-1008)cGt>cTt	p.R336L	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	336					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R336L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CAAGTGCAAACGGCGGATACC	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											70	71	71					1																	193149686		2203	4300	6503	191416309	SO:0001583	missense	8707			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.1007G>T	1.37:g.193149686C>A	ENSP00000356404:p.Arg336Leu		191416309	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090354	0.20471	.	.	ENSG00000162630	ENST00000367434	T	0.39406	1.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	N	0.00811	-1.165	0.80722	D	1	B	0.30114	0.269	B	0.32583	0.148	T	0.32981	-0.9886	10	0.02654	T	1	.	19.2206	0.93795	0.0:1.0:0.0:0.0	.	336	O43825	B3GT2_HUMAN	L	336	ENSP00000356404:R336L	ENSP00000356404:R336L	R	-	2	0	B3GALT2	191416309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.208000	0.51114	2.529000	0.85273	0.650000	0.86243	CGT		0.428	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		A	193149686	C	A	193149686	3	1	458	1	0	0	0	0	1	0	0	0	1248	536	19	3	265	3	B3GALT2	1	193149686	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	7115232	193149686	56100935	11	25094											
GLI2	2736	broad.mit.edu	37	2	121728096	121728096	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr2:121728096G>T	ENST00000452319.1	+	7	1033	c.973G>T	c.(973-975)Gcc>Tcc	p.A325S	GLI2_ENST00000361492.4_Missense_Mutation_p.A325S|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2									p.A325S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CACCTTCCTGGCCCAGCAGCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	2											125	107	113					2																	121728096		2203	4300	6503	121444566	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.973G>T	2.37:g.121728096G>T	ENSP00000390436:p.Ala325Ser		121444566		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.433|2.433	-0.330408|-0.330408	0.05314|0.05314	.|.	.|.	ENSG00000074047|ENSG00000074047	ENST00000452319;ENST00000361492|ENST00000440937	T;T|.	0.12984|.	2.63;2.63|.	4.65|4.65	2.7|2.7	0.31948|0.31948	.|.	0.560986|.	0.18182|.	N|.	0.149106|.	T|T	0.07369|0.07369	0.0186|0.0186	N|N	0.00210|0.00210	-1.845|-1.845	0.80722|0.80722	D|D	1|1	B;B|B	0.12630|0.33583	0.006;0.003|0.418	B;B|B	0.10450|0.30943	0.001;0.005|0.122	T|T	0.08086|0.08086	-1.0739|-1.0739	10|8	0.05525|0.87932	T|D	0.97|0	.|.	1.1128|1.1128	0.01707|0.01707	0.1753:0.2447:0.3536:0.2265|0.1753:0.2447:0.3536:0.2265	.|.	325;325|195	P10070;Q0VGA0|F5H4D9	GLI2_HUMAN;.|.	S|V	325|195	ENSP00000390436:A325S;ENSP00000354586:A325S|.	ENSP00000354586:A325S|ENSP00000395688:G195V	A|G	+|+	1|2	0|0	GLI2|GLI2	121444566|121444566	0.030000|0.030000	0.19436|0.19436	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	-0.108000|-0.108000	0.10857|0.10857	1.308000|1.308000	0.44962|0.44962	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121728096	G	T	121728096	3	4	458	1	0	0	0	0	1	0	0	0	6438	1203	42	3	995	3	GLI2	2	121728096	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08		121728096	121471277	12	25095											
KCTD18	130535	broad.mit.edu	37	2	201371645	201371645	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr2:201371645C>A	ENST00000359878.3	-	2	605	c.95G>T	c.(94-96)cGc>cTc	p.R32L	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.R32L	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	32	BTB.				protein homooligomerization (GO:0051260)			p.R32L(1)|p.R32H(1)|p.R32P(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GTCCTTGAAGCGGCACAAGGA	0.483																																																3	Substitution - Missense(3)	ovary(1)|lung(1)|endometrium(1)	2											75	81	79					2																	201371645		2203	4300	6503	201079890	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.95G>T	2.37:g.201371645C>A	ENSP00000352941:p.Arg32Leu		201079890	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819003	0.71028	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.48522	0.81;0.81	5.46	5.46	0.80206	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000004	T	0.46908	0.1417	L	0.53617	1.68	0.43598	D	0.99595	B;P	0.52170	0.021;0.951	B;B	0.43728	0.011;0.429	T	0.48422	-0.9037	10	0.52906	T	0.07	-18.4704	14.0045	0.64453	0.1512:0.8488:0.0:0.0	.	32;32	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	L	32	ENSP00000352941:R32L;ENSP00000386751:R32L	ENSP00000352941:R32L	R	-	2	0	KCTD18	201079890	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.085000	0.50151	2.840000	0.97914	0.655000	0.94253	CGC		0.483	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		A	201371645	C	A	201371645	3	1	458	1	0	0	0	0	1	0	0	0	8105	768	27	3	1209	3	KCTD18	2	201371645	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	79643549	201371645	41827728	13	25096											
SP100	6672	broad.mit.edu	37	2	231406040	231406040	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr2:231406040G>C	ENST00000340126.4	+	27	2387	c.2356G>C	c.(2356-2358)Gtc>Ctc	p.V786L	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.V786L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTCTTGAAGGTCTACTGTGA	0.378																																																1	Substitution - Missense(1)	ovary(1)	2											106	98	100					2																	231406040		1855	4111	5966	231114284	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2356G>C	2.37:g.231406040G>C	ENSP00000343023:p.Val786Leu		231114284	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.63|13.63	2.295774|2.295774	0.40594|0.40594	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|T	.|0.34472	.|1.36	4.25|4.25	-3.91|-3.91	0.04168|0.04168	.|.	.|.	.|.	.|.	.|.	T|T	0.15046|0.15046	0.0363|0.0363	N|N	0.08118|0.08118	0|0	0.30895|0.30895	N|N	0.729898|0.729898	.|B;B	.|0.31931	.|0.024;0.347	.|B;B	.|0.31751	.|0.036;0.135	T|T	0.28964|0.28964	-1.0027|-1.0027	5|9	.|0.29301	.|T	.|0.29	.|.	6.4834|6.4834	0.22075|0.22075	0.6381:0.0:0.2164:0.1455|0.6381:0.0:0.2164:0.1455	.|.	.|256;786	.|E9PHN1;P23497-4	.|.;.	A|L	159|786;256	.|ENSP00000343023:V786L	.|ENSP00000343023:V786L	G|V	+|+	2|1	0|0	SP100|SP100	231114284|231114284	0.000000|0.000000	0.05858|0.05858	0.045000|0.045000	0.18777|0.18777	0.618000|0.618000	0.37518|0.37518	-1.639000|-1.639000	0.02011|0.02011	-0.925000|-0.925000	0.03775|0.03775	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.378	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113		C	231406040	G	C	231406040	3	2	458	1	0	0	0	0	1	0	0	0	14963	1261	44	3	3012	3	SP100	2	231406040	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	30034395	231406040	11793333	14	25097											
PASK	23178	broad.mit.edu	37	2	242051706	242051706	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr2:242051706G>T	ENST00000405260.1	-	15	4180	c.3482C>A	c.(3481-3483)aCt>aAt	p.T1161N	PASK_ENST00000358649.4_Missense_Mutation_p.T1168N|PASK_ENST00000544142.1_Missense_Mutation_p.T975N|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000234040.4_Missense_Mutation_p.T1161N|PASK_ENST00000539818.1_Missense_Mutation_p.T945N	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.T1161N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCCACAAAAAGTATAAAATAA	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											58	57	58					2																	242051706		2203	4300	6503	241700379	SO:0001583	missense	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3482C>A	2.37:g.242051706G>T	ENSP00000384016:p.Thr1161Asn		241700379	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941249	0.53079	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.67171	1.66;1.66;1.66;-0.25;1.66	5.69	5.69	0.88448	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	0.52532	D	0.000061	T	0.75860	0.3907	L	0.49640	1.575	0.52501	D	0.999958	P;P;P;P	0.45531	0.61;0.86;0.69;0.736	P;P;P;P	0.54889	0.627;0.763;0.593;0.715	T	0.76889	-0.2792	10	0.87932	D	0	.	19.8073	0.96535	0.0:0.0:1.0:0.0	.	1126;975;1168;1161	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	N	1161;975;1161;1168;945	ENSP00000234040:T1161N;ENSP00000441374:T975N;ENSP00000384016:T1161N;ENSP00000351475:T1168N;ENSP00000443083:T945N	ENSP00000234040:T1161N	T	-	2	0	PASK	241700379	1.000000	0.71417	0.295000	0.24960	0.065000	0.16274	7.039000	0.76544	2.684000	0.91462	0.655000	0.94253	ACT		0.522	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		T	242051706	G	T	242051706	3	4	458	1	0	0	0	0	1	0	0	0	11472	1029	36	3	505	3	PASK	2	242051706	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	10645666	242051706	1147667	15	25098											
ULK4	54986	broad.mit.edu	37	3	41746788	41746788	+	Nonsense_Mutation	SNP	T	T	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr3:41746788T>A	ENST00000301831.4	-	26	3106	c.2644A>T	c.(2644-2646)Aaa>Taa	p.K882*		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	882					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K34*(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTACAGATTTAATATGACTC	0.303																																																1	Substitution - Nonsense(1)	ovary(1)	3											59	54	55					3																	41746788		1788	4060	5848	41721792	SO:0001587	stop_gained	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2644A>T	3.37:g.41746788T>A	ENSP00000301831:p.Lys882*		41721792	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Nonsense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	44	10.903654	0.99486	.	.	ENSG00000168038	ENST00000301831	.	.	.	5.01	3.8	0.43715	.	0.163853	0.39909	U	0.001239	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.501	0.22168	0.1396:0.0765:0.0:0.7839	.	.	.	.	X	882	.	ENSP00000301831:K882X	K	-	1	0	ULK4	41721792	1.000000	0.71417	0.925000	0.36789	0.751000	0.42716	2.094000	0.41719	0.799000	0.34018	0.482000	0.46254	AAA		0.303	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		A	41746788	T	A	41746788	4	1	458	1	0	0	0	0	0	1	0	0	16978	1763	61	5	1231	5	ULK4	3	41746788	Nonsense_Mutation	SNP	T	TCGA-61-2102-01A-01W-0722-08		41746788	156275642	16	25099											
ATP10D	57205	broad.mit.edu	37	4	47537946	47537946	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr4:47537946A>C	ENST00000273859.3	+	7	1180	c.911A>C	c.(910-912)aAc>aCc	p.N304T	ATP10D_ENST00000504445.1_Missense_Mutation_p.N304T	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	304					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N304T(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGCTGAACAACAGTGGGCCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											108	96	100					4																	47537946		2203	4300	6503	47232703	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.911A>C	4.37:g.47537946A>C	ENSP00000273859:p.Asn304Thr		47232703	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629934	0.87660	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.90069	-2.61;-2.61	5.31	5.31	0.75309	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	L	0.60957	1.885	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.93617	0.6944	10	0.72032	D	0.01	-25.2807	14.7496	0.69516	1.0:0.0:0.0:0.0	.	304;304	Q9P241;Q6PEW3	AT10D_HUMAN;.	T	304	ENSP00000273859:N304T;ENSP00000420909:N304T	ENSP00000273859:N304T	N	+	2	0	ATP10D	47232703	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.129000	0.65627	0.460000	0.39030	AAC		0.408	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		C	47537946	A	C	47537946	3	2	458	1	0	0	0	0	1	0	0	0	1118	43	2	5	933	5	ATP10D	4	47537946	Missense_Mutation	SNP	A	TCGA-61-2102-01A-01W-0722-08		47537946	143616330	17	25100											
FAT4	79633	broad.mit.edu	37	4	126241592	126241592	+	Silent	SNP	C	C	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr4:126241592C>T	ENST00000394329.3	+	1	4039	c.4026C>T	c.(4024-4026)tcC>tcT	p.S1342S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1342	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1342S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAACTGATTCCGATTCAGGTG	0.393																																																2	Substitution - coding silent(2)	ovary(2)	4											139	131	134					4																	126241592		1894	4107	6001	126461042	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4026C>T	4.37:g.126241592C>T			126461042	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126241592	C	T	126241592	2	4	458	1	0	0	0	0	0	0	0	1	5692	639	23	1		1	FAT4	4	126241592	Silent	SNP	C	TCGA-61-2102-01A-01W-0722-08	78703646	126241592	64912684	18	25101											
LRBA	987	broad.mit.edu	37	4	151357919	151357919	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr4:151357919T>G	ENST00000357115.3	-	46	7154	c.6911A>C	c.(6910-6912)cAt>cCt	p.H2304P	LRBA_ENST00000535741.1_Missense_Mutation_p.H2293P|LRBA_ENST00000507224.1_Missense_Mutation_p.H2293P|LRBA_ENST00000510413.1_Missense_Mutation_p.H2293P|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2304	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.H2304P(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGTTGAGTAATGAGTACCATA	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											86	79	81					4																	151357919		2203	4300	6503	151577369	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6911A>C	4.37:g.151357919T>G	ENSP00000349629:p.His2304Pro		151577369	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.790277|4.790277	0.90367|0.90367	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.66995|.	-0.24;-0.24;-0.24;-0.24|.	5.93|5.93	5.93|5.93	0.95920|0.95920	BEACH domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87422|0.87422	0.6173|0.6173	H|H	0.95114|0.95114	3.625|3.625	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.998|.	D;D;D|.	0.97110|.	0.999;1.0;0.99|.	D|D	0.91079|0.91079	0.4898|0.4898	10|5	0.87932|.	D|.	0|.	.|.	16.3839|16.3839	0.83495|0.83495	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2304;2293;194|.	P50851;P50851-2;Q68D03|.	LRBA_HUMAN;.;.|.	P|L	2293;2293;2304;2293|946	ENSP00000446299:H2293P;ENSP00000421552:H2293P;ENSP00000349629:H2304P;ENSP00000422180:H2293P|.	ENSP00000349629:H2304P|.	H|I	-|-	2|1	0|0	LRBA|LRBA	151577369|151577369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.963000|7.963000	0.87922|0.87922	2.258000|2.258000	0.74832|0.74832	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			G	151357919	T	G	151357919	3	3	458	1	0	0	0	0	1	0	0	0	8931	1464	51	5	1732	5	LRBA	4	151357919	Missense_Mutation	SNP	T	TCGA-61-2102-01A-01W-0722-08	25116327	151357919	39796357	19	25102											
IQGAP2	10788	broad.mit.edu	37	5	75996930	75996930	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr5:75996930G>C	ENST00000274364.6	+	34	4694	c.4397G>C	c.(4396-4398)gGa>gCa	p.G1466A	CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G968A|IQGAP2_ENST00000396234.3_Missense_Mutation_p.G962A|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G962A	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1466					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.G1466A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAACTAGATGGAAAAGGAGAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											96	93	94					5																	75996930		2203	4300	6503	76032686	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4397G>C	5.37:g.75996930G>C	ENSP00000274364:p.Gly1466Ala		76032686	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994521	0.35226	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.46	3.63	0.41609	RasGAP protein, C-terminal (1);	0.466924	0.25052	N	0.033504	T	0.40670	0.1126	L	0.56769	1.78	0.43203	D	0.995051	P;B;P	0.45474	0.859;0.365;0.772	B;B;P	0.46758	0.281;0.086;0.526	T	0.27088	-1.0084	10	0.08179	T	0.78	-9.414	10.5538	0.45105	0.0696:0.0:0.7967:0.1337	.	968;962;1466	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	A	1466;968;962;962	ENSP00000274364:G1466A;ENSP00000442313:G968A;ENSP00000379535:G962A;ENSP00000426027:G962A	ENSP00000274364:G1466A	G	+	2	0	IQGAP2	76032686	1.000000	0.71417	0.387000	0.26183	0.228000	0.25075	5.338000	0.65947	0.742000	0.32697	0.655000	0.94253	GGA		0.423	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		C	75996930	G	C	75996930	3	2	458	1	0	0	0	0	1	0	0	0	7815	1174	41	3	4531	3	IQGAP2	5	75996930	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08		75996930	104918330	20	25103											
CAST	831	broad.mit.edu	37	5	96078438	96078438	+	Missense_Mutation	SNP	G	G	A	rs139285603	byFrequency	TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr5:96078438G>A	ENST00000341926.3	+	14	1091	c.929G>A	c.(928-930)cGc>cAc	p.R310H	CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.R288H|CAST_ENST00000359176.4_Missense_Mutation_p.R374H|CAST_ENST00000510756.1_Missense_Mutation_p.R371H|CAST_ENST00000395813.1_Missense_Mutation_p.R393H|CAST_ENST00000509903.1_Missense_Mutation_p.R275H|CAST_ENST00000511782.1_Missense_Mutation_p.R296H|CAST_ENST00000504465.1_Missense_Mutation_p.R238H|CAST_ENST00000515663.1_5'Flank|CAST_ENST00000508830.1_Missense_Mutation_p.R393H|CAST_ENST00000325674.7_Missense_Mutation_p.R358H|CAST_ENST00000511049.1_Missense_Mutation_p.R296H|CAST_ENST00000395812.2_Missense_Mutation_p.R352H|CAST_ENST00000508579.1_Missense_Mutation_p.R25H|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000338252.3_Missense_Mutation_p.R297H|CAST_ENST00000508608.1_Missense_Mutation_p.R356H			P20810	ICAL_HUMAN	calpastatin	310					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.R288H(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CTCGACCTCCGCTCAATTAAG	0.448													G|||	7	0.00139776	0.0053	0	5008	,	,		18182	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	5						G	HIS/ARG,HIS/ARG,HIS/ARG	18,4388	25.3+/-52.1	0,18,2185	54	53	54		1055,890,863	4.1	0.1	5	dbSNP_134	54	0,8600		0,0,4300	yes	missense,missense,missense	CAST	NM_001042440.2,NM_001190442.1,NM_173060.3	29,29,29	0,18,6485	AA,AG,GG		0.0,0.4085,0.1384	benign,benign,benign	352/751,297/696,288/687	96078438	18,12988	2203	4300	6503	96104194	SO:0001583	missense	831			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.929G>A	5.37:g.96078438G>A	ENSP00000339914:p.Arg310His		96104194	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37		5|5	0.0022893772893772895|0.0022893772893772895	5|5	0.01016260162601626|0.01016260162601626	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	11.19|11.19	1.564271|1.564271	0.27915|0.27915	0.004085|0.004085	0.0|0.0	ENSG00000153113|ENSG00000153113	ENST00000437034|ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000509259;ENST00000503828	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.17213	.|2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.93|5.93	4.1|4.1	0.47936|0.47936	.|.	.|0.415798	.|0.27901	.|N	.|0.017390	T|T	0.11281|0.11281	0.0275|0.0275	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	.|0.46512	.|0.75;0.879;0.702;0.81;0.786;0.668;0.839;0.705;0.786;0.705;0.746;0.839;0.653;0.746;0.746	.|B;P;B;B;B;P;B;B;P;B;B;B;B;B;B	.|0.47705	.|0.217;0.555;0.278;0.339;0.392;0.494;0.199;0.138;0.494;0.149;0.361;0.199;0.103;0.361;0.199	T|T	0.04885|0.04885	-1.0920|-1.0920	5|10	.|0.44086	.|T	.|0.13	0.1139|0.1139	9.5128|9.5128	0.39087|0.39087	0.0767:0.142:0.7813:0.0|0.0767:0.142:0.7813:0.0	.|.	.|238;158;356;61;296;275;288;269;310;358;352;374;371;393;297	.|E9PDE4;B7Z8S8;B7Z468;Q86YM9;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2	.|.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.	T|H	62|297;393;358;393;374;358;352;371;356;310;296;288;310;238;275;296;25;25;25	.|ENSP00000343421:R297H;ENSP00000425721:R393H;ENSP00000422951:R358H;ENSP00000379158:R393H;ENSP00000352098:R374H;ENSP00000320319:R358H;ENSP00000379157:R352H;ENSP00000422176:R371H;ENSP00000422677:R356H;ENSP00000339914:R310H;ENSP00000421130:R296H;ENSP00000312523:R288H;ENSP00000422325:R310H;ENSP00000425670:R238H;ENSP00000426946:R275H;ENSP00000423638:R296H;ENSP00000425787:R25H;ENSP00000423846:R25H;ENSP00000422807:R25H	.|ENSP00000312523:R288H	A|R	+|+	1|2	0|0	CAST|CAST	96104194|96104194	0.171000|0.171000	0.23029|0.23029	0.133000|0.133000	0.22050|0.22050	0.038000|0.038000	0.13279|0.13279	3.562000|3.562000	0.53777|0.53777	1.526000|1.526000	0.49068|0.49068	-0.229000|-0.229000	0.12294|0.12294	GCT|CGC		0.448	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		A	96078438	G	A	96078438	3	1	458	1	0	0	0	0	1	0	0	0	2684	1087	38	1	1240	1	CAST	5	96078438	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	20081508	96078438	84836822	21	25104											
FBN2	2201	broad.mit.edu	37	5	127710341	127710341	+	Missense_Mutation	SNP	A	A	T	rs146586596		TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr5:127710341A>T	ENST00000508053.1	-	21	3049	c.2075T>A	c.(2074-2076)aTg>aAg	p.M692K	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.M659K|FBN2_ENST00000262464.4_Missense_Mutation_p.M692K			P35556	FBN2_HUMAN	fibrillin 2	692	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.M692K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGTCCATCCATGCCCACAGC	0.483																																																1	Substitution - Missense(1)	ovary(1)	5						A	LYS/MET	0,4406		0,0,2203	113	101	105		2075	4.4	1	5	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	95	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	692/2913	127710341	1,13005	2203	4300	6503	127738240	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2075T>A	5.37:g.127710341A>T	ENSP00000424571:p.Met692Lys		127738240	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	9.469	1.095037	0.20471	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91295	-2.82;-2.82;-2.82	4.45	4.45	0.53987	Matrix fibril-associated (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.189541	0.34362	N	0.004032	T	0.79569	0.4468	N	0.11560	0.145	0.41015	D	0.98503	B;B	0.19817	0.004;0.039	B;B	0.20577	0.015;0.03	T	0.74414	-0.3673	10	0.07030	T	0.85	.	14.7854	0.69800	1.0:0.0:0.0:0.0	.	659;692	D6RJI3;P35556	.;FBN2_HUMAN	K	692;692;659	ENSP00000262464:M692K;ENSP00000424571:M692K;ENSP00000425596:M659K	ENSP00000262464:M692K	M	-	2	0	FBN2	127738240	0.761000	0.28439	0.990000	0.47175	0.996000	0.88848	6.001000	0.70685	2.231000	0.72958	0.533000	0.62120	ATG		0.483	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127710341	A	T	127710341	3	4	458	1	0	0	0	0	1	0	0	0	5703	217	8	5	6867	5	FBN2	5	127710341	Missense_Mutation	SNP	A	TCGA-61-2102-01A-01W-0722-08	31631903	127710341	53204919	22	25105											
GPRIN1	114787	broad.mit.edu	37	5	176025191	176025191	+	Missense_Mutation	SNP	C	C	A	rs79982520	byFrequency	TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr5:176025191C>A	ENST00000303991.4	-	2	1822	c.1645G>T	c.(1645-1647)Ggc>Tgc	p.G549C		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	549					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.G549C(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCCTTGCCCACCGCGAGG	0.617																																																1	Substitution - Missense(1)	ovary(1)	5											55	54	54					5																	176025191		2203	4300	6503	175957797	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1645G>T	5.37:g.176025191C>A	ENSP00000305839:p.Gly549Cys		175957797	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417295	0.42918	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.12255	2.7	3.9	-1.14	0.09741	.	0.958535	0.08514	N	0.934487	T	0.12987	0.0315	M	0.62723	1.935	0.09310	N	1	B	0.21452	0.056	B	0.25405	0.06	T	0.41945	-0.9480	10	0.48119	T	0.1	0.2373	1.5311	0.02536	0.1507:0.4301:0.1478:0.2714	.	549	Q7Z2K8	GRIN1_HUMAN	C	549	ENSP00000305839:G549C	ENSP00000305839:G549C	G	-	1	0	GPRIN1	175957797	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.320000	0.02700	-0.123000	0.11745	0.455000	0.32223	GGC		0.617	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		A	176025191	C	A	176025191	3	1	458	1	0	0	0	0	1	0	0	0	6729	623	22	3	1385	3	GPRIN1	5	176025191	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	48314850	176025191	4890069	23	25106											
BAT1	7919	broad.mit.edu	37	6	31498580	31498580	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr6:31498580C>G	ENST00000396172.1	-	10	1876	c.1246G>C	c.(1246-1248)Gat>Cat	p.D416H	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Silent_p.L423L|DDX39B_ENST00000458640.1_Missense_Mutation_p.D416H|DDX39B_ENST00000462421.1_Intron|DDX39B_ENST00000415382.2_Missense_Mutation_p.D338H|DDX39B_ENST00000417556.2_Missense_Mutation_p.D431H	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	416	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.D416H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCTATCTCATCAGGCAGCTCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											85	85	85					6																	31498580		1511	2707	4218	31606559	SO:0001583	missense	7919			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1246G>C	6.37:g.31498580C>G	ENSP00000379475:p.Asp416His		31606559	B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670120	0.67814	.	.	ENSG00000198563	ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382	T;T;T;T	0.49720	1.41;1.41;1.4;0.77	4.81	4.81	0.61882	Helicase, C-terminal (1);	0.147481	0.42682	D	0.000672	T	0.44746	0.1308	L	0.50333	1.59	0.80722	D	1	P;B;P;P	0.45902	0.868;0.248;0.845;0.726	B;B;P;B	0.50708	0.365;0.152;0.648;0.325	T	0.45702	-0.9243	10	0.59425	D	0.04	-14.9604	15.4202	0.75006	0.0:1.0:0.0:0.0	.	338;416;431;315	B4DP52;Q13838;F8VQ10;B0V2L1	.;DX39B_HUMAN;.;.	H	416;416;431;338	ENSP00000416269:D416H;ENSP00000379475:D416H;ENSP00000412582:D431H;ENSP00000392669:D338H	ENSP00000379475:D416H	D	-	1	0	DDX39B	31606559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.095000	0.76952	2.504000	0.84457	0.563000	0.77884	GAT		0.463	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		G	31498580	C	G	31498580	3	3	458	1	0	0	0	0	1	0	0	0	1318	826	29	3	48	3	BAT1	6	31498580	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08		31498580	139616487	24	25107											
GPR110	266977	broad.mit.edu	37	6	46984473	46984473	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr6:46984473C>G	ENST00000371253.2	-	8	858	c.643G>C	c.(643-645)Gtt>Ctt	p.V215L	GPR110_ENST00000283297.5_Missense_Mutation_p.V18L|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	215	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V215L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CTGGAGCCAACAACTTCATAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											105	90	95					6																	46984473		2203	4300	6503	47092432	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.643G>C	6.37:g.46984473C>G	ENSP00000360299:p.Val215Leu		47092432	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101758	0.37048	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.41400	1.0;1.41	5.82	0.432	0.16529	SEA (1);	0.422273	0.19036	N	0.124410	T	0.12860	0.0312	L	0.35414	1.06	0.09310	N	1	B	0.29531	0.247	B	0.33620	0.167	T	0.26916	-1.0089	10	0.28530	T	0.3	-7.4249	8.0275	0.30446	0.0:0.3265:0.0:0.6735	.	215	Q5T601	GP110_HUMAN	L	215;215;18	ENSP00000360299:V215L;ENSP00000283297:V18L	ENSP00000283297:V18L	V	-	1	0	GPR110	47092432	0.014000	0.17966	0.412000	0.26496	0.654000	0.38779	-0.028000	0.12350	0.235000	0.21160	0.655000	0.94253	GTT		0.463	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		G	46984473	C	G	46984473	3	3	458	1	0	0	0	0	1	0	0	0	6627	478	17	3	2121	3	GPR110	6	46984473	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	15485893	46984473	124130594	25	25108											
UTRN	7402	broad.mit.edu	37	6	144783798	144783798	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr6:144783798T>G	ENST00000367545.3	+	22	2862	c.2862T>G	c.(2860-2862)gaT>gaG	p.D954E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	954					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D954E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGACCCTTGATGAAATCCTTG	0.313																																																1	Substitution - Missense(1)	ovary(1)	6											31	33	32					6																	144783798		2202	4296	6498	144825491	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2862T>G	6.37:g.144783798T>G	ENSP00000356515:p.Asp954Glu		144825491	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	2.392	-0.339554	0.05243	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.57595	0.39	5.36	4.07	0.47477	.	0.390122	0.21963	N	0.066571	T	0.13884	0.0336	N	0.17082	0.46	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11421	-1.0588	10	0.02654	T	1	.	11.0482	0.47872	0.2294:0.0:0.0:0.7705	.	954	P46939	UTRO_HUMAN	E	954	ENSP00000356515:D954E	ENSP00000356499:D954E	D	+	3	2	UTRN	144825491	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	0.959000	0.29240	2.012000	0.59069	0.533000	0.62120	GAT		0.313	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	144783798	T	G	144783798	3	3	458	1	0	0	0	0	1	0	0	0	17103	1461	51	5	2948	5	UTRN	6	144783798	Missense_Mutation	SNP	T	TCGA-61-2102-01A-01W-0722-08	97799325	144783798	26331269	26	25109											
MEOX2	4223	broad.mit.edu	37	7	15725599	15725599	+	Silent	SNP	C	C	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr7:15725599C>A	ENST00000262041.5	-	1	838	c.429G>T	c.(427-429)gcG>gcT	p.A143A	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	143					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.A143A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCGGCGCGCACGCGGCCCCAG	0.706																																					Esophageal Squamous(140;197 1769 16409 18257 29929)											1	Substitution - coding silent(1)	ovary(1)	7											26	32	30					7																	15725599		2190	4271	6461	15692124	SO:0001819	synonymous_variant	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.429G>T	7.37:g.15725599C>A			15692124	B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	CCDS34605.1																																																																																				0.706	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		A	15725599	C	A	15725599	2	1	458	1	0	0	0	0	0	0	0	1	9474	523	19	3		3	MEOX2	7	15725599	Silent	SNP	C	TCGA-61-2102-01A-01W-0722-08		15725599	143413064	27	25110											
CCDC126	90693	broad.mit.edu	37	7	23682719	23682719	+	Silent	SNP	G	G	A	rs368070236		TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr7:23682719G>A	ENST00000307471.3	+	4	865	c.408G>A	c.(406-408)tcG>tcA	p.S136S	CCDC126_ENST00000409765.1_Silent_p.S136S|CCDC126_ENST00000410069.1_Silent_p.S136S	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	136					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.S136S(1)		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						CGAATGTCTCGGGCAGTATCA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	7						G		2,4404	4.2+/-10.8	0,2,2201	89	75	80		408	-9.3	0.6	7		80	0,8600		0,0,4300	no	coding-synonymous	CCDC126	NM_138771.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		136/141	23682719	2,13004	2203	4300	6503	23649244	SO:0001819	synonymous_variant	90693			BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.408G>A	7.37:g.23682719G>A			23649244	A8K1J6|Q6UWP1|Q75MQ6	Silent	SNP	ENST00000307471.3	37	CCDS5384.1																																																																																				0.428	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771		A	23682719	G	A	23682719	2	1	458	1	0	0	0	0	0	0	0	1	2762	1103	39	1		1	CCDC126	7	23682719	Silent	SNP	G	TCGA-61-2102-01A-01W-0722-08	7957120	23682719	135455944	28	25111											
MUC17	140453	broad.mit.edu	37	7	100678491	100678491	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr7:100678491G>T	ENST00000306151.4	+	3	3858	c.3794G>T	c.(3793-3795)gGt>gTt	p.G1265V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1265	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.G1265V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCGCTGAAGGTACCAGCTTG	0.517																																																1	Substitution - Missense(1)	ovary(1)	7											288	276	280					7																	100678491		2203	4300	6503	100465211	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3794G>T	7.37:g.100678491G>T	ENSP00000302716:p.Gly1265Val		100465211	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.635	-0.517920	0.04171	.	.	ENSG00000169876	ENST00000306151	T	0.03607	3.87	0.373	0.373	0.16178	.	.	.	.	.	T	0.07007	0.0178	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.43065	-0.9414	8	0.17369	T	0.5	.	.	.	.	.	1265	Q685J3	MUC17_HUMAN	V	1265	ENSP00000302716:G1265V	ENSP00000302716:G1265V	G	+	2	0	MUC17	100465211	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.503000	0.06383	0.472000	0.27344	0.134000	0.15878	GGT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100678491	G	T	100678491	3	4	458	1	0	0	0	0	1	0	0	0	9974	1261	44	3	3804	3	MUC17	7	100678491	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	76995772	100678491	58460172	29	25112											
PRKDC	5591	broad.mit.edu	37	8	48811097	48811097	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr8:48811097G>C	ENST00000314191.2	-	29	3453	c.3397C>G	c.(3397-3399)Cac>Gac	p.H1133D	PRKDC_ENST00000338368.3_Missense_Mutation_p.H1133D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1133					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.H1133D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CGGCATAGGTGATCAATGGCA	0.368								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											1	Substitution - Missense(1)	ovary(1)	8											81	78	79					8																	48811097		1873	4106	5979	48973650	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3397C>G	8.37:g.48811097G>C	ENSP00000313420:p.His1133Asp		48973650	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	26.7	4.763751	0.89932	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.63744	-0.06;-0.06	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.83371	0.0007	9	0.72032	D	0.01	.	19.3005	0.94143	0.0:0.0:1.0:0.0	.	1133;1133	E7EUY0;P78527	.;PRKDC_HUMAN	D	1133	ENSP00000313420:H1133D;ENSP00000345182:H1133D	ENSP00000313420:H1133D	H	-	1	0	PRKDC	48973650	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.879000	0.92398	2.567000	0.86603	0.557000	0.71058	CAC		0.368	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		C	48811097	G	C	48811097	3	2	458	1	0	0	0	0	1	0	0	0	12524	1290	45	3	9220	3	PRKDC	8	48811097	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08		48811097	97552925	30	25113											
TM7SF4	81501	broad.mit.edu	37	8	105360851	105360851	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr8:105360851C>T	ENST00000297581.2	+	2	120	c.71C>T	c.(70-72)cCc>cTc	p.P24L	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.P24L|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	24					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.P24L(3)									CCAAGAAGCCCCGGATGGATG	0.493																																																3	Substitution - Missense(3)	lung(2)|ovary(1)	8											110	102	105					8																	105360851		2203	4300	6503	105430027	SO:0001583	missense	81501			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.71C>T	8.37:g.105360851C>T	ENSP00000297581:p.Pro24Leu		105430027	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	7.615	0.675555	0.14841	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.30981	1.51	5.51	1.68	0.24146	.	0.763345	0.13211	N	0.405189	T	0.25644	0.0624	M	0.64997	1.995	0.42701	D	0.993615	B	0.31680	0.335	B	0.26614	0.071	T	0.03673	-1.1014	10	0.35671	T	0.21	-0.8203	5.7692	0.18243	0.1349:0.6513:0.0:0.2138	.	24	Q9H295	TM7S4_HUMAN	L	24	ENSP00000297581:P24L	ENSP00000297581:P24L	P	+	2	0	TM7SF4	105430027	0.002000	0.14202	0.004000	0.12327	0.008000	0.06430	0.923000	0.28757	0.033000	0.15463	-0.136000	0.14681	CCC		0.493	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		T	105360851	C	T	105360851	3	4	458	1	0	0	0	0	1	0	0	0	15976	623	22	2	73	2	TM7SF4	8	105360851	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	56549754	105360851	41003171	31	25114											
TPM2	7169	broad.mit.edu	37	9	35689193	35689193	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr9:35689193C>G	ENST00000360958.2	-	2	294	c.190G>C	c.(190-192)Gtg>Ctg	p.V64L	TPM2_ENST00000378300.5_Missense_Mutation_p.V64L|TPM2_ENST00000378292.3_Missense_Mutation_p.V64L|TPM2_ENST00000329305.2_Missense_Mutation_p.V64L	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	64					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.V64L(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCTCCTTCACGGATTCAGAA	0.582																																																1	Substitution - Missense(1)	ovary(1)	9											163	153	156					9																	35689193		2203	4300	6503	35679193	SO:0001583	missense	7169				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.190G>C	9.37:g.35689193C>G	ENSP00000354219:p.Val64Leu		35679193	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	6.850	0.526091	0.13066	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	4.94	4.94	0.65067	.	.	.	.	.	T	0.38585	0.1046	N	0.00462	-1.47	0.32606	N	0.525292	B;B;B;B;B	0.10296	0.0;0.001;0.001;0.003;0.001	B;B;B;B;B	0.15052	0.003;0.007;0.012;0.007;0.002	T	0.39742	-0.9599	9	0.02654	T	1	-8.4515	13.6685	0.62409	0.0:0.845:0.155:0.0	.	64;64;64;64;64	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	L	64	ENSP00000367550:V64L;ENSP00000367542:V64L;ENSP00000367541:V64L;ENSP00000354219:V64L	ENSP00000367541:V64L	V	-	1	0	TPM2	35679193	0.985000	0.35326	0.954000	0.39281	0.995000	0.86356	2.195000	0.42677	2.559000	0.86315	0.561000	0.74099	GTG		0.582	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		G	35689193	C	G	35689193	3	3	458	1	0	0	0	0	1	0	0	0	16406	536	19	3	863	3	TPM2	9	35689193	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08		35689193	105524238	32	25115											
SPTAN1	6709	broad.mit.edu	37	9	131360733	131360733	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr9:131360733C>G	ENST00000372731.4	+	25	3579	c.3469C>G	c.(3469-3471)Ctg>Gtg	p.L1157V	SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000358161.5_Missense_Mutation_p.L1157V|SPTAN1_ENST00000372739.3_Missense_Mutation_p.L1157V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1157					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L1157V(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCTGAAGACCTGGAGTCTGA	0.478																																					NSCLC(120;833 1744 2558 35612 37579)											1	Substitution - Missense(1)	ovary(1)	9											119	89	99					9																	131360733		2203	4300	6503	130400554	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3469C>G	9.37:g.131360733C>G	ENSP00000361816:p.Leu1157Val		130400554	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643077	0.67244	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.63255	-0.03;-0.03;-0.03	6.08	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D	0.89917	0.979;0.979;1.0;0.974;0.979	D;D;D;D;D	0.87578	0.982;0.973;0.998;0.969;0.982	D	0.86702	0.1930	10	0.87932	D	0	.	15.1955	0.73084	0.0:0.9331:0.0:0.0669	.	1157;1137;1137;1157;1157	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	V	1157;1157;1157;1137	ENSP00000350882:L1157V;ENSP00000361816:L1157V;ENSP00000361824:L1157V	ENSP00000350882:L1157V	L	+	1	2	SPTAN1	130400554	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.702000	0.54800	1.590000	0.49995	0.591000	0.81541	CTG		0.478	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		G	131360733	C	G	131360733	3	3	458	1	0	0	0	0	1	0	0	0	15119	680	24	3	3563	3	SPTAN1	9	131360733	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	95671540	131360733	9852698	33	25116											
CCBL1	883	broad.mit.edu	37	9	131600011	131600011	+	Missense_Mutation	SNP	G	G	A	rs183682394	byFrequency	TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr9:131600011G>A	ENST00000302586.3	-	6	682	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	CCBL1_ENST00000436267.2_Missense_Mutation_p.R268C|CCBL1_ENST00000320665.6_Missense_Mutation_p.R124C|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	174					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.R174C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GCTTTGGTGCGTGATGTGAAT	0.617													G|||	3	0.000599042	0.0023	0	5008	,	,		19960	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9						G	CYS/ARG,CYS/ARG,CYS/ARG	2,4128		0,2,2063	81	88	86		520,370,520	4.5	0.8	9		86	0,8362		0,0,4181	yes	missense,missense,missense	CCBL1	NM_001122671.1,NM_001122672.1,NM_004059.4	180,180,180	0,2,6244	AA,AG,GG		0.0,0.0484,0.016	benign,benign,benign	174/423,124/373,174/423	131600011	2,12490	2065	4181	6246	130639832	SO:0001583	missense	883			Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.520C>T	9.37:g.131600011G>A	ENSP00000302227:p.Arg174Cys		130639832	Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	CCDS43884.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.45	2.239771	0.39598	4.84E-4	0.0	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84	5.36	4.47	0.54385	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.182891	0.49916	N	0.000129	D	0.92958	0.7759	H	0.95260	3.645	0.50171	D	0.999853	B;B;B;B	0.26845	0.07;0.107;0.07;0.161	B;B;B;B	0.23716	0.016;0.048;0.016;0.044	D	0.91867	0.5504	10	0.66056	D	0.02	-24.3281	13.053	0.58964	0.0788:0.0:0.9212:0.0	.	268;124;174;174	B7Z4W5;Q16773-2;Q16773;Q5T278	.;.;KAT1_HUMAN;.	C	174;124;268;174;174	ENSP00000302227:R174C;ENSP00000317342:R124C;ENSP00000399415:R268C;ENSP00000390377:R174C;ENSP00000412402:R174C	ENSP00000302227:R174C	R	-	1	0	CCBL1	130639832	0.553000	0.26513	0.767000	0.31495	0.792000	0.44763	3.447000	0.52936	1.255000	0.44051	-0.126000	0.14955	CGC		0.617	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			A	131600011	G	A	131600011	3	1	458	1	0	0	0	0	1	0	0	0	2732	1145	40	1	780	1	CCBL1	9	131600011	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	239278	131600011	9613420	34	25117											
MGMT	4255	broad.mit.edu	37	10	131506261	131506261	+	Silent	SNP	C	C	T	rs112373357		TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr10:131506261C>T	ENST00000306010.7	+	3	353	c.321C>T	c.(319-321)atC>atT	p.I107I	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	76					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)	p.I76I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CCGAGGCTATCGAAGAGTTCC	0.597								Direct reversal of damage																																								1	Substitution - coding silent(1)	ovary(1)	10						C		1,4405	2.1+/-5.4	0,1,2202	108	107	108		321	-4.1	0	10	dbSNP_132	108	0,8600		0,0,4300	no	coding-synonymous	MGMT	NM_002412.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		107/239	131506261	1,13005	2203	4300	6503	131396251	SO:0001819	synonymous_variant	4255			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.321C>T	10.37:g.131506261C>T			131396251	Q5VY78	Silent	SNP	ENST00000306010.7	37	CCDS7660.2																																																																																				0.597	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		T	131506261	C	T	131506261	2	4	458	1	0	0	0	0	0	0	0	1	9557	874	31	1		1	MGMT	10	131506261	Silent	SNP	C	TCGA-61-2102-01A-01W-0722-08		131506261	4028486	35	25118											
EFEMP2	30008	broad.mit.edu	37	11	65635353	65635353	+	Silent	SNP	C	C	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr11:65635353C>T	ENST00000307998.6	-	10	1379	c.1149G>A	c.(1147-1149)tcG>tcA	p.S383S	EFEMP2_ENST00000528176.1_Silent_p.S383S|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	383					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.S383S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		AGTCCCCCTGCGAGTTTCCAG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	11											88	88	88					11																	65635353		2201	4296	6497	65391929	SO:0001819	synonymous_variant	30008			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1149G>A	11.37:g.65635353C>T			65391929	A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	CCDS8116.1																																																																																				0.562	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		T	65635353	C	T	65635353	2	4	458	1	0	0	0	0	0	0	0	1	4942	755	27	1		1	EFEMP2	11	65635353	Silent	SNP	C	TCGA-61-2102-01A-01W-0722-08		65635353	69371163	36	25119											
CACNA1C	775	broad.mit.edu	37	12	2774755	2774755	+	Silent	SNP	C	C	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr12:2774755C>T	ENST00000347598.4	+	38	4551	c.4551C>T	c.(4549-4551)aaC>aaT	p.N1517N	CACNA1C_ENST00000399601.1_Silent_p.N1469N|CACNA1C_ENST00000402845.3_Silent_p.N1469N|CACNA1C_ENST00000399591.1_Silent_p.N1458N|CACNA1C_ENST00000399637.1_Silent_p.N1469N|CACNA1C_ENST00000327702.7_Silent_p.N1469N|CACNA1C_ENST00000399655.1_Silent_p.N1469N|CACNA1C_ENST00000335762.5_Silent_p.N1494N|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.N1469N|CACNA1C_ENST00000399621.1_Silent_p.N1469N|CACNA1C_ENST00000399638.1_Silent_p.N1497N|CACNA1C_ENST00000399595.1_Silent_p.N1458N|CACNA1C_ENST00000399634.1_Silent_p.N1469N|CACNA1C_ENST00000399606.1_Silent_p.N1489N|CACNA1C_ENST00000399649.1_Silent_p.N1456N|CACNA1C_ENST00000399641.1_Silent_p.N1469N|CACNA1C_ENST00000344100.3_Silent_p.N1491N|CACNA1C_ENST00000399617.1_Silent_p.N1469N|CACNA1C_ENST00000399629.1_Silent_p.N1486N|CACNA1C_ENST00000399644.1_Silent_p.N1469N|CACNA1C_ENST00000406454.3_Silent_p.N1469N|CACNA1C_ENST00000399603.1_Silent_p.N1469N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1517	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.N1547N(1)|p.N1004N(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATCATCAACCTCTTTGTAG	0.522																																																2	Substitution - coding silent(2)	ovary(2)	12											136	139	138					12																	2774755		2196	4300	6496	2645016	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4551C>T	12.37:g.2774755C>T			2645016	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.522	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2774755	C	T	2774755	2	4	458	1	0	0	0	0	0	0	0	1	2540	506	18	2		2	CACNA1C	12	2774755	Silent	SNP	C	TCGA-61-2102-01A-01W-0722-08		2774755	131077140	37	25120											
ERGIC2	51290	broad.mit.edu	37	12	29510635	29510635	+	Silent	SNP	T	T	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr12:29510635T>G	ENST00000360150.4	-	7	472	c.397A>C	c.(397-399)Agg>Cgg	p.R133R		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	133					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)		p.R133R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TCTTGTAGCCTACTCTGAATC	0.343																																																1	Substitution - coding silent(1)	ovary(1)	12											125	123	124					12																	29510635		1852	4103	5955	29401902	SO:0001819	synonymous_variant	51290			AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.397A>C	12.37:g.29510635T>G			29401902	A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Silent	SNP	ENST00000360150.4	37	CCDS41765.1																																																																																				0.343	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		G	29510635	T	G	29510635	2	3	458	1	0	0	0	0	0	0	0	1	5224	1521	53	5		5	ERGIC2	12	29510635	Silent	SNP	T	TCGA-61-2102-01A-01W-0722-08	26735880	29510635	104341260	38	25121											
MDM1	56890	broad.mit.edu	37	12	68690735	68690735	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr12:68690735T>A	ENST00000303145.7	-	13	2086	c.2000A>T	c.(1999-2001)cAg>cTg	p.Q667L	MDM1_ENST00000540418.1_Missense_Mutation_p.Q387L|MDM1_ENST00000411698.2_Missense_Mutation_p.Q632L	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	667					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.Q667L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTGAGGTAACTGCAAATTGTT	0.313																																																1	Substitution - Missense(1)	ovary(1)	12											128	122	124					12																	68690735		2202	4299	6501	66977002	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.2000A>T	12.37:g.68690735T>A	ENSP00000302537:p.Gln667Leu		66977002	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	T	8.038	0.763170	0.15914	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.25579	1.79;2.09;2.1	5.02	3.88	0.44766	.	0.537282	0.20336	N	0.094339	T	0.26122	0.0637	M	0.72118	2.19	0.80722	D	1	B;B	0.14438	0.004;0.01	B;B	0.11329	0.006;0.006	T	0.04650	-1.0936	9	.	.	.	-5.3148	7.8707	0.29565	0.0:0.0927:0.0:0.9073	.	632;667	E7EPQ3;Q8TC05	.;MDM1_HUMAN	L	387;667;632	ENSP00000443815:Q387L;ENSP00000302537:Q667L;ENSP00000391006:Q632L	.	Q	-	2	0	MDM1	66977002	1.000000	0.71417	0.922000	0.36590	0.293000	0.27360	1.280000	0.33202	1.065000	0.40693	-0.281000	0.10026	CAG		0.313	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		A	68690735	T	A	68690735	3	1	458	1	0	0	0	0	1	0	0	0	9412	1580	55	5	152	5	MDM1	12	68690735	Missense_Mutation	SNP	T	TCGA-61-2102-01A-01W-0722-08	39180100	68690735	65161160	39	25122											
CIT	11113	broad.mit.edu	37	12	120135501	120135501	+	Missense_Mutation	SNP	C	C	T	rs367930288		TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr12:120135501C>T	ENST00000261833.7	-	45	5771	c.5719G>A	c.(5719-5721)Ggc>Agc	p.G1907S	CIT_ENST00000392521.2_Missense_Mutation_p.G1949S|CIT_ENST00000537607.1_5'UTR|RP1-127H14.3_ENST00000535109.1_5'Flank	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1907					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G1935S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTTCAGTGCCGGACTCCTTC	0.562																																																1	Substitution - Missense(1)	ovary(1)	12						C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	103	107	105		5845,5719	2.7	0.8	12		105	0,8600		0,0,4300	no	missense,missense	CIT	NM_001206999.1,NM_007174.2	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	1949/2070,1907/2028	120135501	1,13005	2203	4300	6503	118619884	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5719G>A	12.37:g.120135501C>T	ENSP00000261833:p.Gly1907Ser		118619884	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665825	0.47677	2.27E-4	0.0	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.63417	-0.02;-0.04	4.91	2.66	0.31614	.	0.373196	0.28871	N	0.013866	T	0.48003	0.1476	L	0.47716	1.5	0.26885	N	0.967448	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.35574	-0.9783	10	0.40728	T	0.16	.	4.1964	0.10445	0.0:0.499:0.0:0.501	.	1949;1907;1425	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	S	1949;1907	ENSP00000376306:G1949S;ENSP00000261833:G1907S	ENSP00000261833:G1907S	G	-	1	0	CIT	118619884	.	.	0.836000	0.33094	0.886000	0.51366	.	.	1.199000	0.43173	0.655000	0.94253	GGC		0.562	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120135501	C	T	120135501	3	4	458	1	0	0	0	0	1	0	0	0	3438	652	23	1	376	1	CIT	12	120135501	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	51444766	120135501	13716394	40	25123											
GPR109A	338442	broad.mit.edu	37	12	123187813	123187813	+	Silent	SNP	C	C	T	rs200636697		TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr12:123187813C>T	ENST00000328880.5	-	1	77	c.18G>A	c.(16-18)ctG>ctA	p.L6L	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	6					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)	p.L6L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	AGTGATCCTGCAGATGGTGCC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	12											97	90	92					12																	123187813		2203	4300	6503	121753766	SO:0001819	synonymous_variant	338442			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.18G>A	12.37:g.123187813C>T			121753766	A0PJL5|A7LGG3	Silent	SNP	ENST00000328880.5	37	CCDS9235.1																																																																																				0.527	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		T	123187813	C	T	123187813	2	4	458	1	0	0	0	0	0	0	0	1	6625	697	25	2		2	GPR109A	12	123187813	Silent	SNP	C	TCGA-61-2102-01A-01W-0722-08	3052312	123187813	10664082	41	25124											
GPR109B	8843	broad.mit.edu	37	12	123201267	123201267	+	Silent	SNP	C	C	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr12:123201267C>T	ENST00000528880.2	-	1	172	c.18G>A	c.(16-18)ctG>ctA	p.L6L	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	6					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L6L(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	AGTGATCCTGCAGATGGTGCC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	12											84	74	77					12																	123201267		2203	4300	6503	121767220	SO:0001819	synonymous_variant	8843			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.18G>A	12.37:g.123201267C>T			121767220	A8K4G5|B2R830|E9PI97|Q8NGE4	Silent	SNP	ENST00000528880.2	37	CCDS53842.1																																																																																				0.522	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		T	123201267	C	T	123201267	2	4	458	1	0	0	0	0	0	0	0	1	6626	697	25	2		2	GPR109B	12	123201267	Silent	SNP	C	TCGA-61-2102-01A-01W-0722-08	13454	123201267	10650628	42	25125											
TBC1D4	9882	broad.mit.edu	37	13	75873642	75873642	+	Missense_Mutation	SNP	G	G	C	rs370816364		TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr13:75873642G>C	ENST00000377636.3	-	17	3326	c.2980C>G	c.(2980-2982)Ctc>Gtc	p.L994V	TBC1D4_ENST00000377625.2_Missense_Mutation_p.L931V|TBC1D4_ENST00000431480.2_Missense_Mutation_p.L986V|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000425511.1_Missense_Mutation_p.L158V	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	994	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.L994V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCTTTCAGGAGGTTAAACAGT	0.468																																																1	Substitution - Missense(1)	ovary(1)	13											55	57	56					13																	75873642		1896	4132	6028	74771643	SO:0001583	missense	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2980C>G	13.37:g.75873642G>C	ENSP00000366863:p.Leu994Val		74771643	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048531	0.75846	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.41	5.41	0.78517	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000018	T	0.11495	0.0280	N	0.02876	-0.465	0.80722	D	1	B;P;B;D	0.69078	0.242;0.805;0.361;0.997	B;B;B;D	0.85130	0.131;0.432;0.321;0.997	T	0.56414	-0.7983	10	0.19590	T	0.45	-16.8428	19.1956	0.93686	0.0:0.0:1.0:0.0	.	158;931;986;994	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	V	994;986;931;158	ENSP00000366863:L994V;ENSP00000395986:L986V;ENSP00000366852:L931V;ENSP00000390654:L158V	ENSP00000366852:L931V	L	-	1	0	TBC1D4	74771643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.635000	0.83286	2.524000	0.85096	0.591000	0.81541	CTC		0.468	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		C	75873642	G	C	75873642	3	2	458	1	0	0	0	0	1	0	0	0	15622	1000	35	3	936	3	TBC1D4	13	75873642	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08		75873642	39296236	43	25126											
RNASE9	390443	broad.mit.edu	37	14	21024850	21024850	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr14:21024850T>G	ENST00000557068.1	-	4	2104	c.379A>C	c.(379-381)Att>Ctt	p.I127L	RNASE9_ENST00000557209.1_Missense_Mutation_p.I132L|RNASE9_ENST00000554964.1_Missense_Mutation_p.I127L|RNASE9_ENST00000404716.3_Missense_Mutation_p.I132L|RNASE9_ENST00000556208.1_Missense_Mutation_p.I132L|RNASE9_ENST00000555230.1_Missense_Mutation_p.I127L|RNASE9_ENST00000553541.1_Missense_Mutation_p.I127L|RNASE9_ENST00000553706.1_Missense_Mutation_p.I132L|RNASE9_ENST00000429244.2_Missense_Mutation_p.I127L|RNASE9_ENST00000338904.3_Missense_Mutation_p.I127L			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	127						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.I127L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		CATTTCCTAATTCCATTCTTA	0.368																																																1	Substitution - Missense(1)	ovary(1)	14											76	68	71					14																	21024850		2203	4300	6503	20094690	SO:0001583	missense	390443			AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"Ribonucleases, RNase A"	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.379A>C	14.37:g.21024850T>G	ENSP00000451565:p.Ile127Leu		20094690	A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	ENST00000557068.1	37	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	T	9.865	1.197338	0.22037	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	3.73	-7.47	0.01365	Ribonuclease A, domain (3);	.	.	.	.	T	0.55049	0.1896	L	0.29908	0.895	0.09310	N	1	B;B	0.23185	0.041;0.081	B;B	0.24155	0.051;0.03	T	0.43097	-0.9412	9	0.45353	T	0.12	-18.1418	13.2156	0.59859	0.0:0.5511:0.0:0.4489	.	127;132	P60153;P60153-2	RNAS9_HUMAN;.	L	127;127;127;127;132;132;127;127;132;132	ENSP00000340162:I127L;ENSP00000450599:I127L;ENSP00000450800:I127L;ENSP00000451565:I127L;ENSP00000384683:I132L;ENSP00000451160:I132L;ENSP00000451285:I127L;ENSP00000409504:I127L;ENSP00000450570:I132L;ENSP00000450987:I132L	ENSP00000340162:I127L	I	-	1	0	RNASE9	20094690	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.832000	0.01696	-1.960000	0.01017	-1.534000	0.00916	ATT		0.368	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673		G	21024850	T	G	21024850	3	3	458	1	0	0	0	0	1	0	0	0	13413	1493	52	5	242	5	RNASE9	14	21024850	Missense_Mutation	SNP	T	TCGA-61-2102-01A-01W-0722-08		21024850	86324690	44	25127											
RSL24D1	51187	broad.mit.edu	37	15	55475541	55475541	+	Silent	SNP	G	G	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr15:55475541G>A	ENST00000260443.4	-	5	566	c.390C>T	c.(388-390)aaC>aaT	p.N130N		NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	130					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)		p.N130N(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						TAAGATGGATGTTTTGCTTGA	0.353																																																1	Substitution - coding silent(1)	ovary(1)	15											83	74	77					15																	55475541		2193	4292	6485	53262833	SO:0001819	synonymous_variant	51187			AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"chromosome 15 open reading frame 15"	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.390C>T	15.37:g.55475541G>A			53262833	B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Silent	SNP	ENST00000260443.4	37	CCDS10152.1																																																																																				0.353	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254916.1	NM_016304		A	55475541	G	A	55475541	2	1	458	1	0	0	0	0	0	0	0	1	13704	1368	48	2		2	RSL24D1	15	55475541	Silent	SNP	G	TCGA-61-2102-01A-01W-0722-08		55475541	47055851	45	25128											
SRRM2	23524	broad.mit.edu	37	16	2813347	2813347	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr16:2813347A>G	ENST00000301740.8	+	11	3367	c.2818A>G	c.(2818-2820)Agg>Ggg	p.R940G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	940	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R940G(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAGTCCTAGTAGGGTGACGTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	16											90	83	85					16																	2813347		2198	4300	6498	2753348	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2818A>G	16.37:g.2813347A>G	ENSP00000301740:p.Arg940Gly		2753348	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	6.450	0.451201	0.12223	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.27557	1.66	5.67	3.36	0.38483	.	0.000000	0.64402	D	0.000001	T	0.45418	0.1341	L	0.47716	1.5	0.29940	N	0.821118	D	0.57899	0.981	D	0.69824	0.966	T	0.45145	-0.9281	10	0.66056	D	0.02	-11.5969	11.2519	0.49031	0.5409:0.4591:0.0:0.0	.	940	Q9UQ35	SRRM2_HUMAN	G	940;940;192;905	ENSP00000301740:R940G	ENSP00000301740:R940G	R	+	1	2	SRRM2	2753348	0.944000	0.32072	0.981000	0.43875	0.539000	0.34962	1.100000	0.31025	0.393000	0.25203	-0.316000	0.08728	AGG		0.488	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			G	2813347	A	G	2813347	3	3	458	1	0	0	0	0	1	0	0	0	15171	411	15	4	2856	4	SRRM2	16	2813347	Missense_Mutation	SNP	A	TCGA-61-2102-01A-01W-0722-08		2813347	87541406	46	25129											
PPL	5493	broad.mit.edu	37	16	4935453	4935458	+	In_Frame_Del	DEL	GCCTCC	GCCTCC	-	rs202140447	byFrequency	TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	GCCTCC	GCCTCC	-	-	GCCTCC	GCCTCC	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr16:4935453_4935458delGCCTCC	ENST00000345988.2	-	22	3287_3292	c.3198_3203delGGAGGC	c.(3196-3204)ctggaggca>cta	p.EA1067del	PPL_ENST00000590782.2_In_Frame_Del_p.EA1065del	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1067					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A1068_E1069del(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGGTACTCTGCCTCCAGCTGGGGGT	0.617																																																1	Deletion - In frame(1)	ovary(1)	16																																								4875459	SO:0001651	inframe_deletion	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3198_3203delGGAGGC	16.37:g.4935453_4935458delGCCTCC	ENSP00000340510:p.Glu1067_Ala1068del		4875454	O60314|O60454|Q14C98	In_Frame_Del	DEL	ENST00000345988.2	37	CCDS10526.1																																																																																				0.617	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		-	4935458	GCCTCC	-	4935453	7	5	458	1	0	1	0	1	0	0	0	0	12337	1319	46	0	2071	0	PPL	16	4935453	In_Frame_Del	DEL	GCCTCC	TCGA-61-2102-01A-01W-0722-08	2122106	4935453	85419300	47	25130											
ZNF423	23090	broad.mit.edu	37	16	49823411	49823411	+	Silent	SNP	G	G	A	rs116537749	byFrequency	TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr16:49823411G>A	ENST00000561648.1	-	2	116	c.63C>T	c.(61-63)tcC>tcT	p.S21S	ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000262383.2_Silent_p.S21S|ZNF423_ENST00000562520.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	21					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S21S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGCTGTCACGGAGGAATCCC	0.572													G|||	12	0.00239617	0.0083	0.0014	5008	,	,		16030	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	16						G		28,4368	35.2+/-66.4	0,28,2170	41	40	40		63	-7.6	0.9	16	dbSNP_132	40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,29,6469	AA,AG,GG		0.0116,0.6369,0.2231		21/1285	49823411	29,12967	2198	4300	6498	48380912	SO:0001819	synonymous_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.63C>T	16.37:g.49823411G>A			48380912	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																				0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		A	49823411	G	A	49823411	2	1	458	1	0	0	0	0	0	0	0	1	17898	1103	39	1		1	ZNF423	16	49823411	Silent	SNP	G	TCGA-61-2102-01A-01W-0722-08	44887958	49823411	40531342	48	25131											
C16orf70	80262	broad.mit.edu	37	16	67159946	67159947	+	Splice_Site	INS	-	-	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	-	-	T	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr16:67159946_67159947insT	ENST00000219139.3	+	3	419		c.e3+1		C16orf70_ENST00000569600.1_Splice_Site|C16orf70_ENST00000569683.1_Splice_Site	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70									p.?(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GAGACTTAAGGTAACTATAAAT	0.371																																																1	Unknown(1)	ovary(1)	16																																								65717448	SO:0001630	splice_region_variant	80262			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.231+1->T	16.37:g.67159947_67159947dupT			65717447	Q9HA86	Splice_Site	INS	ENST00000219139.3	37	CCDS10828.1																																																																																				0.371	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	Intron	T	67159947	-	T	67159946	8	5	458	1	0	1	1	0	0	0	1	0	1829	1275	44	0	242	0	C16orf70	16	67159946	Splice_Site	INS	-	TCGA-61-2102-01A-01W-0722-08	17336535	67159946	23194807	49	25132											
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.G266R|TP53_ENST00000445888.2_Missense_Mutation_p.G266R	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	CTGTTCCGTCCCAGTAGATTA	0.517		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"	86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	17											49	44	46					17																	7577142		2203	4300	6503	7517867	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.796G>A	17.37:g.7577142C>T	ENSP00000269305:p.Gly266Arg		7517867	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577142	C	T	7577142	3	4	458	1	0	0	0	0	1	0	0	0	16381	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08		7577142	73618068	50	25133											
CA10	56934	broad.mit.edu	37	17	49825164	49825164	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr17:49825164C>T	ENST00000285273.4	-	5	1405	c.294G>A	c.(292-294)atG>atA	p.M98I	CA10_ENST00000570565.1_Missense_Mutation_p.M23I|CA10_ENST00000451037.2_Missense_Mutation_p.M98I|CA10_ENST00000340813.6_Missense_Mutation_p.M104I|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.M98I	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	98					brain development (GO:0007420)			p.M98I(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CAGTGTTGTACATGGTCCCAC	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											118	105	110					17																	49825164		2203	4300	6503	47180163	SO:0001583	missense	56934			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.294G>A	17.37:g.49825164C>T	ENSP00000285273:p.Met98Ile		47180163	B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.309727	0.81247	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.72	5.72	0.89469	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.071779	0.85682	D	0.000000	T	0.52533	0.1740	N	0.11154	0.105	0.80722	D	1	P;P;B	0.49961	0.93;0.93;0.083	P;P;B	0.53102	0.718;0.718;0.055	T	0.50294	-0.8845	9	.	.	.	.	19.2318	0.93843	0.0:1.0:0.0:0.0	.	98;104;23	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	I	98;98;98;104	ENSP00000390666:M98I;ENSP00000285273:M98I;ENSP00000405388:M98I;ENSP00000340363:M104I	.	M	-	3	0	CA10	47180163	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.745000	0.85046	2.865000	0.98341	0.655000	0.94253	ATG		0.542	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		T	49825164	C	T	49825164	3	4	458	1	0	0	0	0	1	0	0	0	2511	478	17	2	716	2	CA10	17	49825164	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	42248022	49825164	31370046	51	25134											
NPLOC4	55666	broad.mit.edu	37	17	79580491	79580491	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr17:79580491G>C	ENST00000331134.6	-	4	454	c.239C>G	c.(238-240)tCg>tGg	p.S80W	NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000374747.5_Missense_Mutation_p.S80W|NPLOC4_ENST00000539314.1_5'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	80					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S80W(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGCAAGGCTCGAGGGAAACAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	17											60	57	58					17																	79580491		1981	4157	6138	77190937	SO:0001583	missense	55666			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.239C>G	17.37:g.79580491G>C	ENSP00000331487:p.Ser80Trp		77190937	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090874	0.76756	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	5.82	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.977	T	0.66720	-0.5852	9	0.72032	D	0.01	-7.7152	10.8268	0.46638	0.0676:0.0:0.8011:0.1313	.	80;80	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	W	80;79	.	ENSP00000331487:S80W	S	-	2	0	NPLOC4	77190937	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.037000	0.76531	0.769000	0.33313	-0.136000	0.14681	TCG		0.512	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			C	79580491	G	C	79580491	3	2	458	1	0	0	0	0	1	0	0	0	10586	1059	37	3	1643	3	NPLOC4	17	79580491	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	29755327	79580491	1614719	52	25135											
KIAA0802	23255	broad.mit.edu	37	18	8819155	8819155	+	Silent	SNP	G	G	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr18:8819155G>A	ENST00000306329.11	+	11	4011	c.4011G>A	c.(4009-4011)tcG>tcA	p.S1337S	SOGA2_ENST00000306285.7_Silent_p.S343S|SOGA2_ENST00000359865.3_Silent_p.S1018S|SOGA2_ENST00000518815.1_Silent_p.S343S|SOGA2_ENST00000400050.3_Silent_p.S977S|SOGA2_ENST00000517570.1_Silent_p.S977S														p.S1018S(1)									ACAGGTGCTCGGCCAGTGAGA	0.622																																																1	Substitution - coding silent(1)	ovary(1)	18											53	50	51					18																	8819155		2203	4300	6503	8809155	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.4011G>A	18.37:g.8819155G>A			8809155		Silent	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	G	11.06	1.526496	0.27299	.	.	ENSG00000168502	ENST00000519823	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.47183	D	0.99934	.	.	.	.	.	.	T	0.40040	-0.9584	4	.	.	.	-9.8281	1.4241	0.02319	0.4215:0.127:0.2304:0.2211	.	.	.	.	S	124	.	.	G	+	1	0	CCDC165	8809155	0.000000	0.05858	0.497000	0.27552	0.999000	0.98932	-4.074000	0.00300	-1.989000	0.00979	0.655000	0.94253	GGC		0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			A	8819155	G	A	8819155	2	1	458	1	0	0	0	0	0	0	0	1	8194	1103	39	1		1	KIAA0802	18	8819155	Silent	SNP	G	TCGA-61-2102-01A-01W-0722-08		8819155	69258093	53	25136											
KIAA1012	22878	broad.mit.edu	37	18	29419302	29419302	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr18:29419302G>A	ENST00000283351.4	-	27	4291	c.3956C>T	c.(3955-3957)tCa>tTa	p.S1319L	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S1265L	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1319					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.S1319L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGATTAAATGATTCTGGGTA	0.343																																																1	Substitution - Missense(1)	ovary(1)	18											117	122	120					18																	29419302		2203	4300	6503	27673300	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3956C>T	18.37:g.29419302G>A	ENSP00000283351:p.Ser1319Leu		27673300	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373423	0.42105	.	.	ENSG00000153339	ENST00000283351	T	0.19532	2.14	5.44	5.44	0.79542	.	0.112845	0.64402	D	0.000010	T	0.25195	0.0612	L	0.55103	1.725	0.80722	D	1	P	0.36944	0.574	B	0.38616	0.277	T	0.01298	-1.1392	10	0.36615	T	0.2	.	15.9302	0.79654	0.0:0.1351:0.8649:0.0	.	1319	Q9Y2L5	TPPC8_HUMAN	L	1319	ENSP00000283351:S1319L	ENSP00000283351:S1319L	S	-	2	0	TRAPPC8	27673300	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.448000	0.73469	2.709000	0.92574	0.655000	0.94253	TCA		0.343	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		A	29419302	G	A	29419302	3	1	458	1	0	0	0	0	1	0	0	0	8204	1294	45	2	363	2	KIAA1012	18	29419302	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	20600147	29419302	48657946	54	25137											
POLI	11201	broad.mit.edu	37	18	51809296	51809296	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr18:51809296A>G	ENST00000579534.1	+	6	1029	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E	POLI_ENST00000579434.1_Missense_Mutation_p.K193E|POLI_ENST00000406285.3_Missense_Mutation_p.K217E|POLI_ENST00000217800.5_Missense_Mutation_p.K170E	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	296					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.K271E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AATTTTAGAAAAAGAATTAGG	0.393								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	ovary(1)	18											49	47	48					18																	51809296		2203	4300	6503	50063294	SO:0001583	missense	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.886A>G	18.37:g.51809296A>G	ENSP00000462664:p.Lys296Glu		50063294	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742374	0.49151	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.22945	1.93	5.96	5.96	0.96718	DNA polymerase, Y-family, little finger domain (1);	0.096318	0.64402	D	0.000001	T	0.33206	0.0855	L	0.55743	1.74	0.58432	D	0.999997	P;D	0.55385	0.728;0.971	P;P	0.48304	0.5;0.573	T	0.02728	-1.1118	10	0.31617	T	0.26	-11.7965	15.431	0.75099	1.0:0.0:0.0:0.0	.	216;296	B7Z780;Q9UNA4	.;POLI_HUMAN	E	217;296	ENSP00000385196:K217E	ENSP00000217800:K296E	K	+	1	0	POLI	50063294	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.016000	0.57159	2.285000	0.76669	0.533000	0.62120	AAA		0.393	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		G	51809296	A	G	51809296	3	3	458	1	0	0	0	0	1	0	0	0	12203	15	1	4	908	4	POLI	18	51809296	Missense_Mutation	SNP	A	TCGA-61-2102-01A-01W-0722-08	22389994	51809296	26267952	55	25138											
ATP9B	374868	broad.mit.edu	37	18	76856480	76856480	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr18:76856480C>G	ENST00000426216.2	+	2	141	c.124C>G	c.(124-126)Cag>Gag	p.Q42E	ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.Q42E|ATP9B_ENST00000458297.2_5'UTR|ATP9B_ENST00000586722.1_Missense_Mutation_p.Q42E	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	42					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Q42E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AACTAGGTACCAGCTGGAGGA	0.433																																																1	Substitution - Missense(1)	ovary(1)	18											141	125	130					18																	76856480		2203	4300	6503	74957468	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.124C>G	18.37:g.76856480C>G	ENSP00000398076:p.Gln42Glu		74957468	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217443	0.39201	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.56275	0.47;0.47	5.03	5.03	0.67393	.	0.359929	0.23537	N	0.047113	T	0.36799	0.0980	N	0.20685	0.6	0.80722	D	1	B;B;B	0.22604	0.043;0.072;0.021	B;B;B	0.21708	0.01;0.036;0.013	T	0.27331	-1.0077	10	0.02654	T	1	.	18.7151	0.91672	0.0:1.0:0.0:0.0	.	42;42;42	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	E	42	ENSP00000398076:Q42E;ENSP00000304500:Q42E	ENSP00000304500:Q42E	Q	+	1	0	ATP9B	74957468	1.000000	0.71417	0.986000	0.45419	0.841000	0.47740	4.045000	0.57368	2.511000	0.84671	0.563000	0.77884	CAG		0.433	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		G	76856480	C	G	76856480	3	3	458	1	0	0	0	0	1	0	0	0	1199	595	21	3	130	3	ATP9B	18	76856480	Missense_Mutation	SNP	C	TCGA-61-2102-01A-01W-0722-08	25047184	76856480	1220768	56	25139											
MAST3	23031	broad.mit.edu	37	19	18255395	18255395	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr19:18255395G>A	ENST00000262811.6	+	22	2617	c.2617G>A	c.(2617-2619)Gcc>Acc	p.A873T	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	873							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.A895T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AAGAGACCCAGCCCCTGAGAA	0.697																																																1	Substitution - Missense(1)	ovary(1)	19											31	39	37					19																	18255395		2031	4172	6203	18116395	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2617G>A	19.37:g.18255395G>A	ENSP00000262811:p.Ala873Thr		18116395	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630596	0.28978	.	.	ENSG00000099308	ENST00000262811	T	0.67171	-0.25	4.57	3.45	0.39498	.	0.482219	0.18847	N	0.129502	T	0.42988	0.1227	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10660	-1.0620	10	0.31617	T	0.26	-8.3345	4.9076	0.13806	0.1495:0.0:0.6409:0.2096	.	873	O60307	MAST3_HUMAN	T	873	ENSP00000262811:A873T	ENSP00000262811:A873T	A	+	1	0	MAST3	18116395	0.000000	0.05858	0.015000	0.15790	0.980000	0.70556	0.583000	0.23849	2.100000	0.63781	0.491000	0.48974	GCC		0.697	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		A	18255395	G	A	18255395	3	1	458	1	0	0	0	0	1	0	0	0	9326	971	34	2	2703	2	MAST3	19	18255395	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08		18255395	40873588	57	25140											
ZNF383	163087	broad.mit.edu	37	19	37726942	37726942	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr19:37726942G>A	ENST00000589413.1	+	7	781	c.198G>A	c.(196-198)atG>atA	p.M66I	ZNF383_ENST00000352998.3_Missense_Mutation_p.M66I|ZNF383_ENST00000590503.1_Missense_Mutation_p.M66I			Q8NA42	ZN383_HUMAN	zinc finger protein 383	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M66I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCCTGGATGGTTGGCAGAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	19											121	114	116					19																	37726942		2203	4300	6503	42418782	SO:0001583	missense	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.198G>A	19.37:g.37726942G>A	ENSP00000464871:p.Met66Ile		42418782	Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915790	0.52546	.	.	ENSG00000188283	ENST00000352998	T	0.05925	3.37	3.39	2.35	0.29111	Krueppel-associated box (2);	0.000000	0.38381	N	0.001716	T	0.04363	0.0120	L	0.35288	1.05	0.22112	N	0.999357	P	0.39831	0.69	B	0.33454	0.164	T	0.41161	-0.9524	10	0.33940	T	0.23	.	8.7522	0.34622	0.1164:0.0:0.8836:0.0	.	66	Q8NA42	ZN383_HUMAN	I	66	ENSP00000340132:M66I	ENSP00000340132:M66I	M	+	3	0	ZNF383	42418782	0.090000	0.21635	0.978000	0.43139	0.994000	0.84299	0.265000	0.18515	0.988000	0.38734	0.563000	0.77884	ATG		0.488	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		A	37726942	G	A	37726942	3	1	458	1	0	0	0	0	1	0	0	0	17874	1348	47	2	208	2	ZNF383	19	37726942	Missense_Mutation	SNP	G	TCGA-61-2102-01A-01W-0722-08	19471547	37726942	21402041	58	25141											
ZNF761	388561	broad.mit.edu	37	19	53958360	53958360	+	RNA	SNP	C	C	A			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr19:53958360C>A	ENST00000454407.1	+	0	1052							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S146*(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGGAATTCTTCATTACTCACA	0.373																																																1	Substitution - Nonsense(1)	ovary(1)	19											95	101	99					19																	53958360		2203	4300	6503	58650172			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958360C>A			58650172	Q6ZNB9	Nonsense_Mutation	SNP	ENST00000454407.1	37																																																																																					0.373	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		A	53958360	C	A	53958360	1	1	458	0	1	0	0	0	0	0	0	0	18136	838	29	3		3	ZNF761	19	53958360	RNA	SNP	C	TCGA-61-2102-01A-01W-0722-08	16231418	53958360	5170623	59	25142											
ZSCAN4	201516	broad.mit.edu	37	19	58189283	58189283	+	Splice_Site	SNP	T	T	G			TCGA-61-2102-01A-01W-0722-08	TCGA-61-2102-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	f7bb789f-01a9-44d4-a2a5-b0fb65260d46	c2ebbdb2-14e0-42ab-93ad-ed48ed5f9d4c	g.chr19:58189283T>G	ENST00000318203.5	+	4	1095	c.398T>G	c.(397-399)gTc>gGc	p.V133G		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	133					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V133G(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTTACAGGTCCACGTCCAC	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											117	102	107					19																	58189283		2203	4300	6503	62881095	SO:0001630	splice_region_variant	201516			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.397-1T>G	19.37:g.58189283T>G			62881095	Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.746273	0.49257	.	.	ENSG00000180532	ENST00000318203	T	0.10763	2.84	4.04	4.04	0.47022	.	0.000000	0.41001	D	0.000977	T	0.27278	0.0669	M	0.76002	2.32	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.03784	-1.1004	10	0.19590	T	0.45	-15.7613	9.6829	0.40080	0.0:0.0:0.0:1.0	.	133	Q8NAM6	ZSCA4_HUMAN	G	133	ENSP00000321963:V133G	ENSP00000321963:V133G	V	+	2	0	ZSCAN4	62881095	0.961000	0.32948	1.000000	0.80357	0.441000	0.31987	1.158000	0.31737	2.054000	0.61138	0.533000	0.62120	GTC		0.438	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677	Missense_Mutation	G	58189283	T	G	58189283	5	3	458	1	0	0	0	0	0	0	1	0	18237	1681	58	5	404	5	ZSCAN4	19	58189283	Splice_Site	SNP	T	TCGA-61-2102-01A-01W-0722-08	4230923	58189283	939700	60	25143											
C6orf142	90523	broad.mit.edu	37	6	54095599	54095599	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2104-01A-01W-0722-08	TCGA-61-2104-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b52d553b-b53e-43ab-8014-7c476f8b3883	9343018e-da8e-4102-8361-1feb07f8894a	g.chr6:54095599C>G	ENST00000274897.5	+	11	1314	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.Q936E	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	401						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.Q401E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GCTGCATCCACAGACCCTCTC	0.512																																																1	Substitution - Missense(1)	ovary(1)	6											306	271	283					6																	54095599		2203	4300	6503	54203558	SO:0001583	missense	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1201C>G	6.37:g.54095599C>G	ENSP00000274897:p.Gln401Glu		54203558	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474018	0.43942	.	.	ENSG00000146147	ENST00000274897;ENST00000502396	T;T	0.24350	2.23;1.86	5.59	4.7	0.59300	.	0.166031	0.29692	N	0.011459	T	0.10294	0.0252	N	0.24115	0.695	0.80722	D	1	P;P	0.41393	0.748;0.518	B;B	0.40101	0.319;0.147	T	0.04053	-1.0981	10	0.87932	D	0	.	12.4069	0.55445	0.0:0.8311:0.1689:0.0	.	936;401	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	E	401;936	ENSP00000274897:Q401E;ENSP00000426290:Q936E	ENSP00000274897:Q401E	Q	+	1	0	MLIP	54203558	0.996000	0.38824	0.998000	0.56505	0.994000	0.84299	3.081000	0.50120	1.314000	0.45095	0.650000	0.86243	CAG		0.512	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		G	54095599	C	G	54095599	3	3	459	1	0	0	0	0	1	0	0	0	2333	479	17	3	1243	3	C6orf142	6	54095599	Missense_Mutation	SNP	C	TCGA-61-2104-01A-01W-0722-08		54095599	117019468	1	25144											
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2104-01A-01W-0722-08	TCGA-61-2104-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b52d553b-b53e-43ab-8014-7c476f8b3883	9343018e-da8e-4102-8361-1feb07f8894a	g.chr17:7578443A>T	ENST00000269305.4	-	5	676	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	TP53_ENST00000455263.2_Missense_Mutation_p.Y163N|TP53_ENST00000420246.2_Missense_Mutation_p.Y163N|TP53_ENST00000413465.2_Missense_Mutation_p.Y163N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Y163N|TP53_ENST00000445888.2_Missense_Mutation_p.Y163N	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	GACTGCTTGTAGATGGCCATG	0.622		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"	71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	17											53	54	53					17																	7578443		2203	4300	6503	7519168	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.487T>A	17.37:g.7578443A>T	ENSP00000269305:p.Tyr163Asn		7519168	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	.	.	.	.	.	.	.	.	.	.	A	15.86	2.958850	0.53400	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;1.0;1.0;0.999	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163N;ENSP00000352610:Y163N;ENSP00000269305:Y163N;ENSP00000398846:Y163N;ENSP00000391127:Y163N;ENSP00000391478:Y163N;ENSP00000425104:Y31N;ENSP00000423862:Y70N;ENSP00000424104:Y163N	ENSP00000269305:Y163N	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578443	A	T	7578443	3	4	459	1	0	0	0	0	1	0	0	0	16381	420	15	5	811	5	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-61-2104-01A-01W-0722-08		7578443	73616767	2	25145											
DNAH17	8632	broad.mit.edu	37	17	76511006	76511006	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2104-01A-01W-0722-08	TCGA-61-2104-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b52d553b-b53e-43ab-8014-7c476f8b3883	9343018e-da8e-4102-8361-1feb07f8894a	g.chr17:76511006C>A	ENST00000585328.1	-	26	4078	c.3954G>T	c.(3952-3954)agG>agT	p.R1318S	DNAH17_ENST00000389840.5_Missense_Mutation_p.R1317S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1317	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1318S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGTCCAAAGACCTCATGTCCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	17											159	162	161					17																	76511006		2091	4222	6313	74022601	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3954G>T	17.37:g.76511006C>A	ENSP00000465516:p.Arg1318Ser		74022601	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	17.52	3.409512	0.62399	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.61274	0.12	5.31	3.15	0.36227	.	.	.	.	.	T	0.73345	0.3575	M	0.91872	3.25	0.09310	N	1	.	.	.	.	.	.	T	0.64542	-0.6383	7	0.62326	D	0.03	.	8.2124	0.31492	0.0:0.727:0.1331:0.1399	.	.	.	.	S	1318;1317	ENSP00000374490:R1317S	ENSP00000300671:R1318S	R	-	3	2	DNAH17	74022601	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	-0.199000	0.09491	2.476000	0.83614	0.563000	0.77884	AGG		0.502	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76511006	C	A	76511006	3	1	459	1	0	0	0	0	1	0	0	0	4601	506	18	3	9649	3	DNAH17	17	76511006	Missense_Mutation	SNP	C	TCGA-61-2104-01A-01W-0722-08	68932563	76511006	4684204	3	25146											
PPP1R3A	5506	broad.mit.edu	37	7	113519848	113519848	+	Silent	SNP	G	G	C			TCGA-61-2109-01A-01W-0722-08	TCGA-61-2109-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	022efaca-051e-4e84-a59e-51bcea4f996a	3264cf58-bc38-427a-b115-159dafc6bca0	g.chr7:113519848G>C	ENST00000284601.3	-	4	1367	c.1299C>G	c.(1297-1299)ggC>ggG	p.G433G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	433					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.G433G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTCTTTGCTGCCAGTATGTA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	7											136	123	127					7																	113519848		2203	4299	6502	113307084	SO:0001819	synonymous_variant	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1299C>G	7.37:g.113519848G>C			113307084	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	CCDS5759.1																																																																																				0.428	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		C	113519848	G	C	113519848	2	2	460	1	0	0	0	0	0	0	0	1	12374	1306	46	3		3	PPP1R3A	7	113519848	Silent	SNP	G	TCGA-61-2109-01A-01W-0722-08		113519848	45618815	1	25147											
FLG2	388698	broad.mit.edu	37	1	152324055	152324055	+	Silent	SNP	G	G	A	rs537172304		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr1:152324055G>A	ENST00000388718.5	-	3	6279	c.6207C>T	c.(6205-6207)caC>caT	p.H2069H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2069					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H2069H(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTAGTTCCGTGTCTCTCAT	0.532													G|||	1	0.000199681	0	0.0014	5008	,	,		29224	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	1											547	482	504					1																	152324055		2203	4300	6503	150590679	SO:0001819	synonymous_variant	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6207C>T	1.37:g.152324055G>A			150590679	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152324055	G	A	152324055	2	1	461	1	0	0	0	0	0	0	0	1	5923	1136	40	1		1	FLG2	1	152324055	Silent	SNP	G	TCGA-61-2110-01A-01W-0722-08		152324055	96926566	1	25148											
RCSD1	92241	broad.mit.edu	37	1	167666650	167666650	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr1:167666650G>T	ENST00000367854.3	+	6	1120	c.789G>T	c.(787-789)aaG>aaT	p.K263N	RCSD1_ENST00000537350.1_Missense_Mutation_p.K233N	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	263	RCSD.				cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.K263N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					ACGGTGAAAAGGCCAGGCGGA	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											45	63	57					1																	167666650		2201	4299	6500	165933274	SO:0001583	missense	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.789G>T	1.37:g.167666650G>T	ENSP00000356828:p.Lys263Asn		165933274	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236717	0.22711	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.48201	0.83;0.82	4.68	2.54	0.30619	.	1.779960	0.02448	N	0.085260	T	0.15176	0.0366	L	0.32530	0.975	0.33704	D	0.614952	B;B	0.21071	0.026;0.051	B;B	0.20577	0.008;0.03	T	0.09684	-1.0663	9	0.20519	T	0.43	-3.1606	3.7108	0.08418	0.0967:0.116:0.5241:0.2632	.	233;263	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	N	263;233	ENSP00000356828:K263N;ENSP00000439409:K233N	ENSP00000356828:K263N	K	+	3	2	RCSD1	165933274	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.578000	0.23773	0.941000	0.37499	0.460000	0.39030	AAG		0.627	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		T	167666650	G	T	167666650	3	4	461	1	0	0	0	0	1	0	0	0	13188	991	35	3	811	3	RCSD1	1	167666650	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08	15342595	167666650	81583971	2	25149											
HMCN1	83872	broad.mit.edu	37	1	186084057	186084057	+	Nonsense_Mutation	SNP	C	C	T	rs150673369		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr1:186084057C>T	ENST00000271588.4	+	74	11612	c.11383C>T	c.(11383-11385)Cga>Tga	p.R3795*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R3795*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3795	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R3795*(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATCGCAGGCGAATAGATTT	0.423																																																2	Substitution - Nonsense(2)	ovary(1)|prostate(1)	1						C	stop/ARG	0,4406		0,0,2203	174	168	170		11383	0.4	0.9	1	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	HMCN1	NM_031935.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		3795/5636	186084057	1,13005	2203	4300	6503	184350680	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11383C>T	1.37:g.186084057C>T	ENSP00000271588:p.Arg3795*		184350680	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	53	21.554364	0.99941	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.03	0.405	0.16361	.	0.167438	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	13.0711	0.59061	0.5598:0.4402:0.0:0.0	.	.	.	.	X	3795	.	ENSP00000271588:R3795X	R	+	1	2	HMCN1	184350680	0.999000	0.42202	0.947000	0.38551	0.974000	0.67602	0.735000	0.26115	0.176000	0.19873	0.563000	0.77884	CGA		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186084057	C	T	186084057	4	4	461	1	0	0	0	0	0	1	0	0	7220	760	27	1	11677	1	HMCN1	1	186084057	Nonsense_Mutation	SNP	C	TCGA-61-2110-01A-01W-0722-08	18417407	186084057	63166564	3	25150											
PLD5	200150	broad.mit.edu	37	1	242383405	242383405	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr1:242383405G>A	ENST00000536534.2	-	5	861	c.620C>T	c.(619-621)aCg>aTg	p.T207M	PLD5_ENST00000427495.1_Missense_Mutation_p.T145M|PLD5_ENST00000442594.2_Missense_Mutation_p.T115M			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	207						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.T115M(3)|p.T207M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTTCATGTACGTCACCTCGGC	0.557																																																4	Substitution - Missense(4)	lung(2)|ovary(1)|large_intestine(1)	1											131	118	123					1																	242383405		2203	4300	6503	240450028	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.620C>T	1.37:g.242383405G>A	ENSP00000440896:p.Thr207Met		240450028	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226328	0.39300	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13778	2.56;2.56;2.56	5.52	4.6	0.57074	.	0.238118	0.43747	D	0.000527	T	0.07548	0.0190	N	0.17474	0.49	0.33978	D	0.647606	B;B;B	0.33694	0.421;0.297;0.421	B;B;B	0.21360	0.034;0.015;0.023	T	0.14420	-1.0473	10	0.54805	T	0.06	-20.8238	10.7734	0.46336	0.0909:0.0:0.9091:0.0	.	115;207;145	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	M	145;115;207	ENSP00000401285:T145M;ENSP00000414188:T115M;ENSP00000440896:T207M	ENSP00000401285:T145M	T	-	2	0	PLD5	240450028	0.983000	0.35010	0.999000	0.59377	0.995000	0.86356	1.828000	0.39111	2.591000	0.87537	0.655000	0.94253	ACG		0.557	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		A	242383405	G	A	242383405	3	1	461	1	0	0	0	0	1	0	0	0	12049	1145	40	1	1014	1	PLD5	1	242383405	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08	56299348	242383405	6867216	4	25151											
MYT1L	23040	broad.mit.edu	37	2	1906916	1906916	+	Silent	SNP	A	A	G	rs527880727		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr2:1906916A>G	ENST00000399161.2	-	14	2715	c.1968T>C	c.(1966-1968)taT>taC	p.Y656Y	MYT1L_ENST00000428368.2_Silent_p.Y654Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	656					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y656Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCGCTTGCCATAAGTATGGT	0.483													A|||	1	0.000199681	0	0.0014	5008	,	,		17800	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	2											144	137	139					2																	1906916		1928	4128	6056	1885923	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1968T>C	2.37:g.1906916A>G			1885923	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																					0.483	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		G	1906916	A	G	1906916	2	3	461	1	0	0	0	0	0	0	0	1	10107	224	8	4		4	MYT1L	2	1906916	Silent	SNP	A	TCGA-61-2110-01A-01W-0722-08		1906916	241292457	5	25152											
FAM124B	79843	broad.mit.edu	37	2	225266122	225266122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr2:225266122G>A	ENST00000409685.3	-	1	629	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	FAM124B_ENST00000389874.3_Nonsense_Mutation_p.Q122*|FAM124B_ENST00000243806.2_Nonsense_Mutation_p.Q122*	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	122								p.Q122*(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ATGGGCAGCTGACTGTCCAGG	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	2											54	52	53					2																	225266122		2203	4300	6503	224974366	SO:0001587	stop_gained	79843			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.364C>T	2.37:g.225266122G>A	ENSP00000386895:p.Gln122*		224974366	A6NNC7|Q8NBZ4|Q8TAV7	Nonsense_Mutation	SNP	ENST00000409685.3	37	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	G	39	7.645591	0.98409	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	.	.	.	5.79	4.9	0.64082	.	0.348682	0.34555	N	0.003861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.2537	16.8416	0.85971	0.0:0.1286:0.8714:0.0	.	.	.	.	X	122	.	ENSP00000243806:Q122X	Q	-	1	0	FAM124B	224974366	1.000000	0.71417	0.923000	0.36655	0.971000	0.66376	4.565000	0.60836	1.426000	0.47256	0.655000	0.94253	CAG		0.562	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		A	225266122	G	A	225266122	4	1	461	1	0	0	0	0	0	1	0	0	5426	1299	45	2	1102	2	FAM124B	2	225266122	Nonsense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08	223359206	225266122	17933251	6	25153											
SNRK	54861	broad.mit.edu	37	3	43389239	43389239	+	Silent	SNP	C	C	T	rs2036617	byFrequency	TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr3:43389239C>T	ENST00000296088.7	+	7	1792	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	SNRK_ENST00000437827.1_Silent_p.D290D|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Silent_p.D496D|SNRK_ENST00000429705.2_Silent_p.D496D|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase									p.D496D(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGGAATCTGACGATGAGTTTG	0.507													T|||	130	0.0259585	0.0915	0.013	5008	,	,		20155	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	3						T	,	322,3734		22,278,1728	112	119	117		1488,1488	-3.3	0.2	3	dbSNP_94	117	8,8356		0,8,4174	no	coding-synonymous,coding-synonymous	SNRK	NM_001100594.1,NM_017719.4	,	22,286,5902	TT,TC,CC		0.0956,7.9389,2.657	,	496/766,496/766	43389239	330,12090	2028	4182	6210	43364243	SO:0001819	synonymous_variant	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1488C>T	3.37:g.43389239C>T			43364243		Silent	SNP	ENST00000296088.7	37	CCDS43075.1																																																																																				0.507	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		T	43389239	C	T	43389239	2	4	461	1	0	0	0	0	0	0	0	1	14854	535	19	1		1	SNRK	3	43389239	Silent	SNP	C	TCGA-61-2110-01A-01W-0722-08		43389239	154633191	7	25154											
MON1A	84315	broad.mit.edu	37	3	49949408	49949408	+	Missense_Mutation	SNP	C	C	T	rs370838633		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr3:49949408C>T	ENST00000417270.1	-	4	881	c.188G>A	c.(187-189)cGt>cAt	p.R63H	MON1A_ENST00000483022.1_5'UTR|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.R152H|MON1A_ENST00000455683.2_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	55								p.R55H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCGTAGGAACGGGCATGGAC	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											48	49	49					3																	49949408		2203	4300	6503	49924412	SO:0001583	missense	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.188G>A	3.37:g.49949408C>T	ENSP00000399613:p.Arg63His		49924412	B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37		.	.	.	.	.	.	.	.	.	.	C	13.91	2.378855	0.42207	.	.	ENSG00000164077	ENST00000296473;ENST00000417270	.	.	.	5.0	3.22	0.36961	.	0.300830	0.40144	N	0.001173	T	0.31979	0.0814	L	0.34521	1.04	0.30256	N	0.793598	B	0.13145	0.007	B	0.06405	0.002	T	0.21042	-1.0257	8	.	.	.	-0.9152	7.9292	0.29893	0.0:0.6847:0.0:0.3153	.	55	Q86VX9	MON1A_HUMAN	H	152;63	.	.	R	-	2	0	MON1A	49924412	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.343000	0.33930	0.524000	0.28502	-0.254000	0.11334	CGT		0.627	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		T	49949408	C	T	49949408	3	4	461	1	0	0	0	0	1	0	0	0	9698	536	19	1	1519	1	MON1A	3	49949408	Missense_Mutation	SNP	C	TCGA-61-2110-01A-01W-0722-08	6560169	49949408	148073022	8	25155											
SUCNR1	56670	broad.mit.edu	37	3	151599309	151599309	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr3:151599309A>T	ENST00000362032.5	+	3	1083	c.978A>T	c.(976-978)gaA>gaT	p.E326D	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	326						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E326D(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGGCTCATGAACTCCTACTTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											69	70	70					3																	151599309		2203	4300	6503	153081999	SO:0001583	missense	56670			AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"GPCR / Class A : Orphans"	4542	protein-coding gene	gene with protein product		606381	"G protein-coupled receptor 91"	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.978A>T	3.37:g.151599309A>T	ENSP00000355156:p.Glu326Asp		153081999	A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	A	7.852	0.724127	0.15439	.	.	ENSG00000198829	ENST00000362032	T	0.61040	0.14	4.41	0.47	0.16747	.	4.714200	0.01554	U	0.019799	T	0.34193	0.0889	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.16247	-1.0409	10	0.12430	T	0.62	.	4.9038	0.13788	0.7022:0.0:0.1611:0.1367	.	326	Q9BXA5	SUCR1_HUMAN	D	326	ENSP00000355156:E326D	ENSP00000355156:E326D	E	+	3	2	SUCNR1	153081999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.369000	0.20416	0.002000	0.14630	-0.361000	0.07541	GAA		0.403	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		T	151599309	A	T	151599309	3	4	461	1	0	0	0	0	1	0	0	0	15368	40	2	5	984	5	SUCNR1	3	151599309	Missense_Mutation	SNP	A	TCGA-61-2110-01A-01W-0722-08	101649901	151599309	46423121	9	25156											
HSD17B11	51170	broad.mit.edu	37	4	88261739	88261739	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr4:88261739G>A	ENST00000358290.4	-	6	1030	c.715C>T	c.(715-717)Cct>Tct	p.P239S	HSD17B11_ENST00000507286.1_Missense_Mutation_p.P195S|RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	239					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.P239S(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ACTTCCTCAGGTTCCAGAGTG	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											88	90	89					4																	88261739		2203	4300	6503	88480763	SO:0001583	missense	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.715C>T	4.37:g.88261739G>A	ENSP00000351035:p.Pro239Ser		88480763	Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788461	0.31685	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.92299	-3.01;0.26	5.64	5.64	0.86602	NAD(P)-binding domain (1);	0.157960	0.44097	D	0.000489	D	0.93543	0.7939	M	0.88570	2.965	0.47659	D	0.99948	P	0.37176	0.586	B	0.38194	0.267	D	0.93794	0.7095	10	0.54805	T	0.06	.	16.6324	0.85037	0.0:0.0:1.0:0.0	.	239	Q8NBQ5	DHB11_HUMAN	S	239;195	ENSP00000351035:P239S;ENSP00000423775:P195S	ENSP00000351035:P239S	P	-	1	0	HSD17B11	88480763	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	2.517000	0.45529	2.658000	0.90341	0.655000	0.94253	CCT		0.408	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		A	88261739	G	A	88261739	3	1	461	1	0	0	0	0	1	0	0	0	7380	1261	44	2	195	2	HSD17B11	4	88261739	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08		88261739	102892537	10	25157											
C7	730	broad.mit.edu	37	5	40976882	40976882	+	Missense_Mutation	SNP	G	G	A	rs201976045		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr5:40976882G>A	ENST00000313164.9	+	16	2464	c.2105G>A	c.(2104-2106)tGt>tAt	p.C702Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	702	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.C702Y(1)					Ovarian(839;0.0112)				GTGCCTAAATGTCAGCGCTGG	0.393																																																1	Substitution - Missense(1)	ovary(1)	5						G	TYR/CYS	0,3928		0,0,1964	85	88	87		2105	4.9	1	5		87	2,8300		0,2,4149	no	missense	C7	NM_000587.2	194	0,2,6113	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging	702/844	40976882	2,12228	1964	4151	6115	41012639	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2105G>A	5.37:g.40976882G>A	ENSP00000322061:p.Cys702Tyr		41012639	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164934	0.78339	0.0	2.41E-4	ENSG00000112936	ENST00000313164	T	0.66995	-0.24	4.88	4.88	0.63580	Factor I / membrane attack complex (1);	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87347	0.2335	10	0.87932	D	0	-18.1741	17.822	0.88653	0.0:0.0:1.0:0.0	.	702	P10643	CO7_HUMAN	Y	702	ENSP00000322061:C702Y	ENSP00000322061:C702Y	C	+	2	0	C7	41012639	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	4.659000	0.61504	2.531000	0.85337	0.591000	0.81541	TGT		0.393	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			A	40976882	G	A	40976882	3	1	461	1	0	0	0	0	1	0	0	0	2375	1377	48	2	2167	2	C7	5	40976882	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08		40976882	139938378	11	25158											
PCDHA4	56144	broad.mit.edu	37	5	140188264	140188264	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr5:140188264C>T	ENST00000530339.1	+	1	1492	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R498W|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R498W	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R498W(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAGAGCGGCGGGTAGGGGA	0.662																																																1	Substitution - Missense(1)	ovary(1)	5											55	59	58					5																	140188264		2202	4300	6502	140168448	SO:0001583	missense	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1492C>T	5.37:g.140188264C>T	ENSP00000435300:p.Arg498Trp		140168448	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.526057	0.27299	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52526	0.66;0.66;0.66	4.18	3.29	0.37713	Cadherin (4);Cadherin-like (1);	0.279853	0.19043	U	0.124233	T	0.35219	0.0924	L	0.39898	1.24	0.23243	N	0.998052	P;B;P	0.40250	0.709;0.282;0.639	B;B;B	0.37047	0.236;0.24;0.149	T	0.23013	-1.0200	10	0.62326	D	0.03	.	7.3112	0.26475	0.1683:0.7435:0.0:0.0882	.	498;498;498	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	W	498	ENSP00000423470:R498W;ENSP00000349344:R498W;ENSP00000435300:R498W	ENSP00000349344:R498W	R	+	1	2	PCDHA4	140168448	0.000000	0.05858	1.000000	0.80357	0.410000	0.31052	-0.461000	0.06712	0.871000	0.35750	0.580000	0.79431	CGG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140188264	C	T	140188264	3	4	461	1	0	0	0	0	1	0	0	0	11526	759	27	1	1494	1	PCDHA4	5	140188264	Missense_Mutation	SNP	C	TCGA-61-2110-01A-01W-0722-08	99211382	140188264	40726996	12	25159											
GRM6	2916	broad.mit.edu	37	5	178413884	178413884	+	Silent	SNP	G	G	A	rs149519053		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr5:178413884G>A	ENST00000517717.1	-	8	1493	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.G485G			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	485					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.G485G(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)		CCTGGTACCCGCCACTGCTGG	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		17044	0		0	False		,,,				2504	0															1	Substitution - coding silent(1)	ovary(1)	5						G		0,4406		0,0,2203	68	56	60		1455	-2.6	1	5	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	GRM6	NM_000843.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		485/878	178413884	2,13004	2203	4300	6503	178346490	SO:0001819	synonymous_variant	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.1455C>T	5.37:g.178413884G>A			178346490		Silent	SNP	ENST00000517717.1	37	CCDS4442.1																																																																																				0.647	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			A	178413884	G	A	178413884	2	1	461	1	0	0	0	0	0	0	0	1	6801	1074	38	1		1	GRM6	5	178413884	Silent	SNP	G	TCGA-61-2110-01A-01W-0722-08	38225620	178413884	2501376	13	25160											
HECW1	23072	broad.mit.edu	37	7	43590137	43590137	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr7:43590137G>A	ENST00000395891.2	+	27	4947	c.4342G>A	c.(4342-4344)Gtg>Atg	p.V1448M	HECW1_ENST00000453890.1_Missense_Mutation_p.V1414M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1448	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V1427M(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAAGTGGCGGGTGGAGCGCGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	7											65	74	71					7																	43590137		2182	4286	6468	43556662	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4342G>A	7.37:g.43590137G>A	ENSP00000379228:p.Val1448Met		43556662	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	33	5.223683	0.95139	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.57907	0.37;0.37	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	N	0.13235	0.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.979	T	0.66732	-0.5849	10	0.72032	D	0.01	.	19.6632	0.95882	0.0:0.0:1.0:0.0	.	1414;1448	B4DH42;Q76N89	.;HECW1_HUMAN	M	1448;1414;1448	ENSP00000379228:V1448M;ENSP00000407774:V1414M	ENSP00000265522:V1448M	V	+	1	0	HECW1	43556662	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.476000	0.97823	2.625000	0.88918	0.655000	0.94253	GTG		0.622	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43590137	G	A	43590137	3	1	461	1	0	0	0	0	1	0	0	0	7042	1261	44	2	4440	2	HECW1	7	43590137	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08		43590137	115548526	14	25161											
KIAA1217	56243	broad.mit.edu	37	10	24762850	24762850	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr10:24762850G>A	ENST00000376454.3	+	6	1570	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	KIAA1217_ENST00000376462.1_Missense_Mutation_p.E434K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.E435K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E514K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E232K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E514K|KIAA1217_ENST00000376451.2_Missense_Mutation_p.E232K|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E232K|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E232K	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	514					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.E514K(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTTTAAAAAGGAGCCAGGCAC	0.562																																																1	Substitution - Missense(1)	ovary(1)	10											58	60	60					10																	24762850		2203	4300	6503	24802856	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1540G>A	10.37:g.24762850G>A	ENSP00000365637:p.Glu514Lys		24802856	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058435	0.93846	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.56	5.56	0.83823	.	0.142143	0.64402	D	0.000006	T	0.69223	0.3087	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D;P	0.76494	0.971;0.968;0.971;0.981;0.99;0.971;0.999;0.868	P;P;P;P;P;P;D;B	0.83275	0.775;0.772;0.716;0.851;0.851;0.716;0.996;0.443	T	0.70633	-0.4818	10	0.66056	D	0.02	.	19.4959	0.95072	0.0:0.0:1.0:0.0	.	514;514;232;232;232;232;514;514	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	K	434;514;514;232;514;514;364;435;232;232;232;232;232	ENSP00000365645:E434K;ENSP00000365639:E514K;ENSP00000392625:E514K;ENSP00000365637:E514K;ENSP00000365635:E514K;ENSP00000404798:E364K;ENSP00000389680:E435K;ENSP00000302343:E232K;ENSP00000379722:E232K;ENSP00000365634:E232K;ENSP00000379723:E232K	ENSP00000302343:E232K	E	+	1	0	KIAA1217	24802856	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.040000	0.93783	2.624000	0.88883	0.591000	0.81541	GAG		0.562	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		A	24762850	G	A	24762850	3	1	461	1	0	0	0	0	1	0	0	0	8216	1175	41	2	1562	2	KIAA1217	10	24762850	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08		24762850	110771897	15	25162											
COL17A1	1308	broad.mit.edu	37	10	105819892	105819892	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr10:105819892C>T	ENST00000353479.5	-	14	1416	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	COL17A1_ENST00000393211.3_Missense_Mutation_p.A376T|COL17A1_ENST00000369733.3_Missense_Mutation_p.A376T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	376	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A376T(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCGATGCTGGCAGGGGAGGCT	0.517																																																1	Substitution - Missense(1)	ovary(1)	10											141	98	113					10																	105819892		2203	4300	6503	105809882	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1126G>A	10.37:g.105819892C>T	ENSP00000340937:p.Ala376Thr		105809882	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020543	0.35606	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	D;D;T	0.91180	-2.8;-2.8;0.65	5.73	2.52	0.30459	.	0.302373	0.23569	N	0.046767	T	0.80297	0.4597	N	0.17872	0.535	0.20873	N	0.99984	B;B	0.12013	0.005;0.003	B;B	0.09377	0.004;0.004	T	0.66540	-0.5898	10	0.32370	T	0.25	-11.7962	6.8602	0.24062	0.0:0.5883:0.0:0.4117	.	376;376	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	T	376;376;360;376	ENSP00000340937:A376T;ENSP00000358748:A376T;ENSP00000376905:A376T	ENSP00000340937:A376T	A	-	1	0	COL17A1	105809882	0.923000	0.31300	0.252000	0.24328	0.105000	0.19272	1.589000	0.36644	0.781000	0.33589	0.655000	0.94253	GCC		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		T	105819892	C	T	105819892	3	4	461	1	0	0	0	0	1	0	0	0	3674	710	25	2	3539	2	COL17A1	10	105819892	Missense_Mutation	SNP	C	TCGA-61-2110-01A-01W-0722-08	81057042	105819892	29714855	16	25163											
TBC1D4	9882	broad.mit.edu	37	13	75869049	75869049	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr13:75869049G>A	ENST00000377636.3	-	18	3603	c.3257C>T	c.(3256-3258)cCc>cTc	p.P1086L	TBC1D4_ENST00000431480.2_Missense_Mutation_p.P1078L|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P1023L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P250L|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1086	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P1086L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGGAACCAGGGGGCAGCATA	0.393																																																1	Substitution - Missense(1)	ovary(1)	13											75	74	75					13																	75869049		1924	4175	6099	74767050	SO:0001583	missense	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3257C>T	13.37:g.75869049G>A	ENSP00000366863:p.Pro1086Leu		74767050	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035570	0.93630	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.55	4.71	0.59529	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.63295	0.2499	H	0.95224	3.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.999;0.998;1.0	T	0.75952	-0.3136	10	0.87932	D	0	-20.9614	14.5921	0.68373	0.0705:0.0:0.9295:0.0	.	250;1023;1078;1086	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	L	1086;1078;1023;250	ENSP00000366863:P1086L;ENSP00000395986:P1078L;ENSP00000366852:P1023L;ENSP00000390654:P250L	ENSP00000366852:P1023L	P	-	2	0	TBC1D4	74767050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	1.340000	0.45581	0.563000	0.77884	CCC		0.393	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		A	75869049	G	A	75869049	3	1	461	1	0	0	0	0	1	0	0	0	15622	1232	43	2	655	2	TBC1D4	13	75869049	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08		75869049	39300829	17	25164											
TEP1	7011	broad.mit.edu	37	14	20864064	20864064	+	Silent	SNP	G	G	A	rs558347552		TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr14:20864064G>A	ENST00000262715.5	-	11	1744	c.1704C>T	c.(1702-1704)aaC>aaT	p.N568N	TEP1_ENST00000556935.1_Silent_p.N460N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	568	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.N568N(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATCATGGGCGTTAAGAAATC	0.507													G|||	1	0.000199681	0	0	5008	,	,		17664	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	14											131	127	129					14																	20864064		2203	4300	6503	19933904	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1704C>T	14.37:g.20864064G>A			19933904	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																				0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20864064	G	A	20864064	2	1	461	1	0	0	0	0	0	0	0	1	15759	1136	40	1		1	TEP1	14	20864064	Silent	SNP	G	TCGA-61-2110-01A-01W-0722-08		20864064	86485476	18	25165											
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr17:7578550G>T	ENST00000269305.4	-	5	569	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000420246.2_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000413465.2_Missense_Mutation_p.S127Y	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	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)	GAGGGCAGGGGAGTACTGTAG	0.552		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"	73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(1)	17											44	44	44					17																	7578550		2203	4300	6503	7519275	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.380C>A	17.37:g.7578550G>T	ENSP00000269305:p.Ser127Tyr		7519275	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	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276306	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39	5.48	4.51	0.55191	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	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127Y;ENSP00000352610:S127Y;ENSP00000269305:S127Y;ENSP00000398846:S127Y;ENSP00000391127:S127Y;ENSP00000391478:S127Y;ENSP00000423862:S34Y;ENSP00000424104:S127Y;ENSP00000426252:S127Y	ENSP00000269305:S127Y	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578550	G	T	7578550	3	4	461	1	0	0	0	0	1	0	0	0	16381	1174	41	3	918	3	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08		7578550	73616660	19	25166											
PREX1	57580	broad.mit.edu	37	20	47305234	47305234	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chr20:47305234C>T	ENST00000371941.3	-	10	1317	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	PREX1_ENST00000396220.1_Missense_Mutation_p.R432Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	432	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R432Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGCTTTCTCCGGCGGTCCTT	0.562																																																1	Substitution - Missense(1)	ovary(1)	20											167	119	136					20																	47305234		2203	4300	6503	46738641	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1295G>A	20.37:g.47305234C>T	ENSP00000361009:p.Arg432Gln		46738641	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795891	0.90453	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.28895	1.59;1.59	5.29	4.35	0.52113	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.56097	U	0.000034	T	0.45034	0.1322	M	0.75884	2.315	0.51767	D	0.999934	D	0.56287	0.975	P	0.50791	0.65	T	0.51934	-0.8642	10	0.72032	D	0.01	.	13.8488	0.63483	0.0:0.9265:0.0:0.0735	.	432	Q8TCU6	PREX1_HUMAN	Q	432	ENSP00000361009:R432Q;ENSP00000379522:R432Q	ENSP00000361009:R432Q	R	-	2	0	PREX1	46738641	0.965000	0.33210	0.619000	0.29118	0.996000	0.88848	3.822000	0.55708	1.229000	0.43630	0.563000	0.77884	CGG		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47305234	C	T	47305234	3	4	461	1	0	0	0	0	1	0	0	0	12479	652	23	1	3808	1	PREX1	20	47305234	Missense_Mutation	SNP	C	TCGA-61-2110-01A-01W-0722-08		47305234	15720286	20	25167											
SHROOM2	357	broad.mit.edu	37	X	9900829	9900829	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:9900829C>T	ENST00000380913.3	+	6	3596	c.3506C>T	c.(3505-3507)tCg>tTg	p.S1169L	SHROOM2_ENST00000418909.2_Missense_Mutation_p.S4L|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1169					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.S1169L(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATGGAGACCTCGCGCTCCCCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	X											43	41	42					X																	9900829		2203	4299	6502	9860829	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3506C>T	X.37:g.9900829C>T	ENSP00000370299:p.Ser1169Leu		9860829	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258090	0.59321	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.48201	2.34;1.42;0.82	4.66	4.66	0.58398	.	0.958291	0.08729	N	0.902332	T	0.64853	0.2636	L	0.52573	1.65	0.29890	N	0.82528	P;D	0.89917	0.875;1.0	B;D	0.63381	0.138;0.914	T	0.62129	-0.6919	10	0.72032	D	0.01	-15.2887	16.9974	0.86371	0.0:1.0:0.0:0.0	.	4;1169	Q68DU3;Q13796	.;SHRM2_HUMAN	L	1169;4;4;4	ENSP00000370299:S1169L;ENSP00000415229:S4L;ENSP00000406724:S4L	ENSP00000370299:S1169L	S	+	2	0	SHROOM2	9860829	0.997000	0.39634	0.904000	0.35570	0.481000	0.33189	3.043000	0.49823	1.931000	0.55961	0.523000	0.50628	TCG		0.642	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		T	9900829	C	T	9900829	3	4	461	1	0	0	0	0	1	0	0	0	14297	893	31	1	3528	1	SHROOM2	23	9900829	Missense_Mutation	SNP	C	TCGA-61-2110-01A-01W-0722-08		9900829	145369731	21	25168											
FAM47A	158724	broad.mit.edu	37	X	34148259	34148259	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:34148259G>T	ENST00000346193.3	-	1	2188	c.2137C>A	c.(2137-2139)Cct>Act	p.P713T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	713								p.P713T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCAATCAAAGGTTCATCACTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	X											106	102	104					X																	34148259		2202	4300	6502	34058180	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2137C>A	X.37:g.34148259G>T	ENSP00000345029:p.Pro713Thr		34058180	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876163	0.51801	.	.	ENSG00000185448	ENST00000346193	T	0.19105	2.17	1.17	0.18	0.15068	.	.	.	.	.	T	0.21103	0.0508	M	0.66439	2.03	0.23598	N	0.997326	B	0.20988	0.05	B	0.26310	0.068	T	0.34354	-0.9832	9	0.62326	D	0.03	.	4.0743	0.09897	0.0:0.0:0.5953:0.4047	.	713	Q5JRC9	FA47A_HUMAN	T	713	ENSP00000345029:P713T	ENSP00000345029:P713T	P	-	1	0	FAM47A	34058180	0.050000	0.20438	0.943000	0.38184	0.938000	0.57974	0.340000	0.19892	-0.002000	0.14469	0.544000	0.68410	CCT		0.423	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34148259	G	T	34148259	3	4	461	1	0	0	0	0	1	0	0	0	5569	1261	44	3	242	3	FAM47A	23	34148259	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08	24247430	34148259	121122301	22	25169											
AWAT1	158833	broad.mit.edu	37	X	69460020	69460020	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:69460020G>T	ENST00000374521.3	+	7	908	c.867G>T	c.(865-867)aaG>aaT	p.K289N		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	289					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)	p.K369N(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						AAATTGAAAAGCCAAGCCAGG	0.502																																																1	Substitution - Missense(1)	ovary(1)	X											74	60	65					X																	69460020		2203	4300	6503	69376745	SO:0001583	missense	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.867G>T	X.37:g.69460020G>T	ENSP00000363645:p.Lys289Asn		69376745	Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.043893	0.00398	.	.	ENSG00000204195	ENST00000374521	T	0.13778	2.56	5.39	-10.8	0.00216	.	0.796497	0.11912	N	0.517509	T	0.02083	0.0065	N	0.01505	-0.83	0.09310	N	0.999996	B	0.06786	0.001	B	0.12156	0.007	T	0.30297	-0.9983	10	0.02654	T	1	0.4212	1.5712	0.02616	0.1892:0.3039:0.2627:0.2442	.	289	Q58HT5	AWAT1_HUMAN	N	289	ENSP00000363645:K289N	ENSP00000363645:K289N	K	+	3	2	AWAT1	69376745	0.000000	0.05858	0.130000	0.21974	0.689000	0.40095	-5.995000	0.00086	-3.453000	0.00160	-1.293000	0.01348	AAG		0.502	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		T	69460020	G	T	69460020	3	4	461	1	0	0	0	0	1	0	0	0	1234	962	34	3	893	3	AWAT1	23	69460020	Missense_Mutation	SNP	G	TCGA-61-2110-01A-01W-0722-08	35311761	69460020	85810540	23	25170											
SASH3	54440	broad.mit.edu	37	X	128926972	128926972	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:128926972C>T	ENST00000356892.3	+	7	923	c.809C>T	c.(808-810)aCa>aTa	p.T270I	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	270	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T270I(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CAGGAGCACACATCCACCCTC	0.567																																																1	Substitution - Missense(1)	ovary(1)	X											100	75	83					X																	128926972		2203	4300	6503	128754653	SO:0001583	missense	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.809C>T	X.37:g.128926972C>T	ENSP00000349359:p.Thr270Ile		128754653	A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675204	0.29783	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	D	0.85861	-2.04	5.66	4.78	0.61160	Src homology-3 domain (1);Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.246302	0.48767	D	0.000169	T	0.72145	0.3424	N	0.16066	0.365	0.42178	D	0.991678	B;B	0.22983	0.078;0.003	B;B	0.24848	0.056;0.003	T	0.65438	-0.6168	10	0.30854	T	0.27	-23.3621	8.9436	0.35745	0.0:0.7731:0.1465:0.0804	.	288;270	B4DKQ0;O75995	.;SASH3_HUMAN	I	288;270	ENSP00000349359:T270I	ENSP00000349359:T270I	T	+	2	0	SASH3	128754653	0.576000	0.26700	0.879000	0.34478	0.703000	0.40648	1.033000	0.30191	1.121000	0.41925	0.529000	0.55759	ACA		0.567	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		T	128926972	C	T	128926972	3	4	461	1	0	0	0	0	1	0	0	0	13852	478	17	2	835	2	SASH3	23	128926972	Missense_Mutation	SNP	C	TCGA-61-2110-01A-01W-0722-08	59466952	128926972	26343588	24	25171											
ZNF185	7739	broad.mit.edu	37	X	152113972	152113972	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2110-01A-01W-0722-08	TCGA-61-2110-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa7c5977-756a-4f56-85a3-904a4a0a5e08	6a246545-7239-4e7e-9ddb-31c9aefa1294	g.chrX:152113972C>A	ENST00000370268.4	+	16	1407	c.1370C>A	c.(1369-1371)tCt>tAt	p.S457Y	ZNF185_ENST00000370270.2_Missense_Mutation_p.S489Y|ZNF185_ENST00000318504.7_Missense_Mutation_p.S398Y|ZNF185_ENST00000449285.2_Missense_Mutation_p.S458Y|ZNF185_ENST00000324823.6_Missense_Mutation_p.S225Y|ZNF185_ENST00000535861.1_Missense_Mutation_p.S489Y|ZNF185_ENST00000318529.8_Missense_Mutation_p.S236Y|ZNF185_ENST00000454925.1_Missense_Mutation_p.S95Y|ZNF185_ENST00000539731.1_Missense_Mutation_p.S460Y			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	457						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S220Y(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCGGATCTGAGCAACTT	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											29	33	32					X																	152113972		2057	4182	6239	151864628	SO:0001583	missense	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1370C>A	X.37:g.152113972C>A	ENSP00000359291:p.Ser457Tyr		151864628	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.949|8.949	0.967738|0.967738	0.18659|0.18659	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731	.|T;T;T;T;T	.|0.45276	.|0.91;0.91;0.9;0.9;0.9	2.54|2.54	0.633|0.633	0.17712|0.17712	.|.	.|0.527178	.|0.13972	.|U	.|0.350080	T|T	0.20659|0.20659	0.0497|0.0497	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P;P;P;P;P	.|0.51791	.|0.736;0.478;0.521;0.948;0.948;0.907;0.868;0.948;0.478	.|B;B;B;B;B;B;B;B;B	.|0.43413	.|0.187;0.134;0.126;0.321;0.243;0.243;0.419;0.346;0.101	T|T	0.10776|0.10776	-1.0615|-1.0615	5|10	.|0.62326	.|D	.|0.03	.|.	3.7229|3.7229	0.08463|0.08463	0.0:0.5895:0.2501:0.1604|0.0:0.5895:0.2501:0.1604	.|.	.|458;398;428;460;489;457;95;236;220	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.;.;.;.;.;ZN185_HUMAN;.;.;.	M|Y	98|489;460;458;398;292;225;323;457;236;220;162	.|ENSP00000440847:S489Y;ENSP00000444367:S460Y;ENSP00000395228:S458Y;ENSP00000312782:S398Y;ENSP00000359291:S457Y	.|ENSP00000312782:S398Y	L|S	+|+	1|2	2|0	ZNF185|ZNF185	151864628|151864628	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.082000|0.082000	0.14847|0.14847	0.056000|0.056000	0.16144|0.16144	-0.530000|-0.530000	0.04314|0.04314	CTG|TCT		0.617	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		A	152113972	C	A	152113972	3	1	461	1	0	0	0	0	1	0	0	0	17752	913	32	3	1676	3	ZNF185	23	152113972	Missense_Mutation	SNP	C	TCGA-61-2110-01A-01W-0722-08	23187000	152113972	3156588	25	25172											
NUDC	10726	broad.mit.edu	37	1	27268302	27268302	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr1:27268302G>A	ENST00000321265.5	+	4	545	c.422G>A	c.(421-423)gGg>gAg	p.G141E		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	141					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)		p.G141E(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GACTCCCCAGGGAAGCAGGTG	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											58	52	54					1																	27268302		2203	4300	6503	27140889	SO:0001583	missense	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"nuclear distribution gene C homolog (A. nidulans)", "nuclear distribution C homolog (A. nidulans)"				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.422G>A	1.37:g.27268302G>A	ENSP00000319664:p.Gly141Glu		27140889	Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	CCDS292.1	.	.	.	.	.	.	.	.	.	.	G	4.646	0.120125	0.08881	.	.	ENSG00000090273	ENST00000435827;ENST00000321265;ENST00000452707	T	0.81247	-1.47	4.37	1.14	0.20703	.	0.424311	0.28031	N	0.016880	T	0.52533	0.1740	N	0.12182	0.205	0.33974	D	0.647201	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.48703	-0.9012	10	0.02654	T	1	0.0016	3.0249	0.06087	0.0988:0.3281:0.4049:0.1682	.	92;141	Q9H2R7;Q9Y266	.;NUDC_HUMAN	E	145;141;92	ENSP00000319664:G141E	ENSP00000319664:G141E	G	+	2	0	NUDC	27140889	0.952000	0.32445	0.998000	0.56505	0.972000	0.66771	-0.017000	0.12590	0.571000	0.29365	0.655000	0.94253	GGG		0.542	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			A	27268302	G	A	27268302	3	1	462	1	0	0	0	0	1	0	0	0	10721	1232	43	2	436	2	NUDC	1	27268302	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08		27268302	221982319	1	25173											
COL16A1	1307	broad.mit.edu	37	1	32157226	32157226	+	Silent	SNP	G	G	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr1:32157226G>T	ENST00000373672.3	-	18	1791	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	COL16A1_ENST00000373668.3_Silent_p.I425I|COL16A1_ENST00000271069.6_Silent_p.I425I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	425	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.I425I(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAATGACACAGATCTCTCCTG	0.627																																					Colon(143;498 1786 21362 25193 36625)											1	Substitution - coding silent(1)	ovary(1)	1											143	154	151					1																	32157226		1967	4142	6109	31929813	SO:0001819	synonymous_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1275C>A	1.37:g.32157226G>T			31929813	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																				0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32157226	G	T	32157226	2	4	462	1	0	0	0	0	0	0	0	1	3673	932	33	3		3	COL16A1	1	32157226	Silent	SNP	G	TCGA-61-2111-01A-01W-0722-08	4888924	32157226	217093395	2	25174											
ST3GAL3	6487	broad.mit.edu	37	1	44395826	44395826	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr1:44395826G>A	ENST00000361392.4	+	12	1238	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	ST3GAL3_ENST00000531451.1_Silent_p.A124A|ST3GAL3_ENST00000330208.2_Silent_p.A140A|ST3GAL3_ENST00000372366.1_3'UTR|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R324Q|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R408Q|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R323Q|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.E93K|ST3GAL3_ENST00000361812.4_Silent_p.A155A|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.E193K|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R392Q|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R423Q|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R338Q|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R256Q|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R256Q|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R240Q|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.E178K|ST3GAL3_ENST00000372365.1_3'UTR|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R392Q|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R423Q|ST3GAL3_ENST00000545417.1_Silent_p.A155A|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R323Q|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R408Q|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R369Q|ST3GAL3_ENST00000372362.2_Silent_p.A140A	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	354					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.R423Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				AATATCCAGCGAGAGAAAGAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											200	184	190					1																	44395826		2203	4300	6503	44168413	SO:0001583	missense	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.1061G>A	1.37:g.44395826G>A	ENSP00000355341:p.Arg354Gln		44168413	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	CCDS492.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.42|16.42	3.118971|3.118971	0.56505|0.56505	.|.	.|.	ENSG00000126091|ENSG00000126091	ENST00000372367;ENST00000528371;ENST00000531816|ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372368;ENST00000372372;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77620|0.60171	-0.16;0.43;-1.11|1.61;1.61;1.61;1.61;1.61;1.61;1.51;1.61;1.61;1.61;1.61;1.61;0.21;1.51;1.61	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	.|0.243620	.|0.33591	.|N	.|0.004758	T|T	0.61800|0.61800	0.2376|0.2376	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|D;D;P;P;D;P;P;D;P;D;P;D	0.22604|0.69078	0.021;0.021;0.072|0.995;0.997;0.792;0.792;0.99;0.876;0.873;0.995;0.939;0.985;0.873;0.996	B;B;B|P;P;B;B;P;B;P;P;P;P;P;P	0.16722|0.56563	0.011;0.011;0.016|0.7;0.612;0.063;0.063;0.533;0.091;0.473;0.612;0.556;0.663;0.556;0.801	T|T	0.57242|0.57242	-0.7845|-0.7845	8|9	0.51188|0.27082	T|T	0.08|0.32	.|.	10.1612|10.1612	0.42853|0.42853	0.0939:0.0:0.9061:0.0|0.0939:0.0:0.9061:0.0	.|.	93;178;193|369;324;209;240;323;256;392;338;408;354;423;369	Q11203-22;Q11203-17;Q11203-24|Q11203-2;Q11203-5;Q11203-21;Q11203-16;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.|.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	K|Q	193;178;93|354;338;423;408;392;323;256;369;324;423;408;392;240;256;323	ENSP00000361442:E193K;ENSP00000434876:E178K;ENSP00000434378:E93K|ENSP00000355341:R354Q;ENSP00000354748:R338Q;ENSP00000262915:R423Q;ENSP00000361450:R408Q;ENSP00000316999:R392Q;ENSP00000361449:R323Q;ENSP00000330463:R256Q;ENSP00000317192:R369Q;ENSP00000361444:R324Q;ENSP00000354657:R423Q;ENSP00000361443:R408Q;ENSP00000361447:R392Q;ENSP00000432682:R240Q;ENSP00000432965:R256Q;ENSP00000329755:R323Q	ENSP00000361442:E193K|ENSP00000262915:R423Q	E|R	+|+	1|2	0|0	ST3GAL3|ST3GAL3	44168413|44168413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.274000|3.274000	0.51631|0.51631	2.507000|2.507000	0.84556|0.84556	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.547	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		A	44395826	G	A	44395826	3	1	462	1	0	0	0	0	1	0	0	0	15218	1058	37	1	1314	1	ST3GAL3	1	44395826	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08	12238600	44395826	204854795	3	25175											
CDC7	8317	broad.mit.edu	37	1	91973480	91973480	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr1:91973480A>G	ENST00000428239.1	+	3	444	c.185A>G	c.(184-186)gAc>gGc	p.D62G	CDC7_ENST00000234626.6_Missense_Mutation_p.D62G|CDC7_ENST00000430031.2_Intron|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D62G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AAGATTGAGGACAAAATTGGA	0.299																																																1	Substitution - Missense(1)	ovary(1)	1											102	115	111					1																	91973480		2203	4290	6493	91746068	SO:0001583	missense	8317			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.185A>G	1.37:g.91973480A>G	ENSP00000393139:p.Asp62Gly		91746068	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	CCDS734.1	.	.	.	.	.	.	.	.	.	.	A	9.124	1.009814	0.19277	.	.	ENSG00000097046	ENST00000234626;ENST00000428239;ENST00000426137	T;T;T	0.06294	3.32;3.32;3.32	5.87	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.179295	0.64402	N	0.000013	T	0.02342	0.0072	L	0.41415	1.275	0.48975	D	0.999736	B	0.12630	0.006	B	0.19148	0.024	T	0.33007	-0.9885	10	0.42905	T	0.14	-15.3449	8.1727	0.31264	0.7885:0.0:0.2115:0.0	.	62	O00311	CDC7_HUMAN	G	62	ENSP00000234626:D62G;ENSP00000393139:D62G;ENSP00000398077:D62G	ENSP00000234626:D62G	D	+	2	0	CDC7	91746068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.127000	0.57944	1.165000	0.42670	0.533000	0.62120	GAC		0.299	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		G	91973480	A	G	91973480	3	3	462	1	0	0	0	0	1	0	0	0	3084	275	10	4	191	4	CDC7	1	91973480	Missense_Mutation	SNP	A	TCGA-61-2111-01A-01W-0722-08	47577654	91973480	157277141	4	25176											
IL18R1	8809	broad.mit.edu	37	2	103013236	103013236	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr2:103013236C>G	ENST00000409599.1	+	12	1872	c.1516C>G	c.(1516-1518)Ctt>Gtt	p.L506V	IL18R1_ENST00000233957.1_Missense_Mutation_p.L506V			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	506	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.L506V(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGATAAATCTCTTTCTTATAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											77	84	82					2																	103013236		2203	4300	6503	102379668	SO:0001583	missense	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1516C>G	2.37:g.103013236C>G	ENSP00000387211:p.Leu506Val		102379668	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	C	6.329	0.428715	0.11987	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.07327	3.2;3.2;3.2	5.13	4.24	0.50183	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.334410	0.25912	N	0.027493	T	0.06462	0.0166	N	0.11341	0.13	0.80722	D	1	P;P	0.40970	0.734;0.734	P;P	0.46796	0.527;0.527	T	0.50939	-0.8768	10	0.15066	T	0.55	.	10.3415	0.43882	0.0:0.7893:0.1368:0.0739	.	505;506	B7ZKV7;Q13478	.;IL18R_HUMAN	V	506	ENSP00000386663:L506V;ENSP00000387211:L506V;ENSP00000233957:L506V	ENSP00000233957:L506V	L	+	1	0	IL18R1	102379668	0.997000	0.39634	0.046000	0.18839	0.043000	0.13939	2.787000	0.47798	1.271000	0.44313	0.563000	0.77884	CTT		0.403	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		G	103013236	C	G	103013236	3	3	462	1	0	0	0	0	1	0	0	0	7647	913	32	3	1554	3	IL18R1	2	103013236	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08		103013236	140186137	5	25177											
GRB14	2888	broad.mit.edu	37	2	165349666	165349666	+	Silent	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr2:165349666G>A	ENST00000263915.3	-	14	2041	c.1503C>T	c.(1501-1503)caC>caT	p.H501H	GRB14_ENST00000543549.1_Silent_p.H414H|GRB14_ENST00000497306.1_5'UTR	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	501	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.H501H(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CATCCAGTGTGTGGAACATTT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	2											99	114	109					2																	165349666		2203	4300	6503	165057912	SO:0001819	synonymous_variant	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1503C>T	2.37:g.165349666G>A			165057912	B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	CCDS2222.1																																																																																				0.373	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			A	165349666	G	A	165349666	2	1	462	1	0	0	0	0	0	0	0	1	6757	1368	48	2		2	GRB14	2	165349666	Silent	SNP	G	TCGA-61-2111-01A-01W-0722-08	62336430	165349666	77849707	6	25178											
CCDC141	285025	broad.mit.edu	37	2	179702417	179702417	+	Silent	SNP	G	G	A	rs373773937		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr2:179702417G>A	ENST00000420890.2	-	23	3646	c.3529C>T	c.(3529-3531)Cta>Tta	p.L1177L	CCDC141_ENST00000295723.5_Silent_p.L602L|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1177								p.L602L(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTTGTGGTAGTCGCTCTTCC	0.493																																																1	Substitution - coding silent(1)	ovary(1)	2											89	89	89					2																	179702417		2203	4300	6503	179410662	SO:0001819	synonymous_variant	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3529C>T	2.37:g.179702417G>A			179410662	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37																																																																																					0.493	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		A	179702417	G	A	179702417	2	1	462	1	0	0	0	0	0	0	0	1	2775	1020	36	2		2	CCDC141	2	179702417	Silent	SNP	G	TCGA-61-2111-01A-01W-0722-08	14352751	179702417	63496956	7	25179											
GIN1	54826	broad.mit.edu	37	5	102423841	102423841	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr5:102423841C>G	ENST00000399004.2	-	8	1424	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	444					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.D444H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TAGTCATGATCTGCCACTACT	0.303																																																1	Substitution - Missense(1)	ovary(1)	5											95	85	88					5																	102423841		1853	4101	5954	102451740	SO:0001583	missense	54826			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"gypsy integrase 1", "Ty3/Gypsy integrase 1"		"zinc finger, H2C2 domain containing"	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1330G>C	5.37:g.102423841C>G	ENSP00000381970:p.Asp444His		102451740	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.579117	0.65878	.	.	ENSG00000145723	ENST00000399004	T	0.31247	1.5	5.65	5.65	0.86999	.	14.748200	0.00166	N	0.000001	T	0.54029	0.1833	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.30327	-0.9982	10	0.87932	D	0	-25.7779	18.2582	0.90025	0.0:1.0:0.0:0.0	.	444	Q9NXP7	GIN1_HUMAN	H	444	ENSP00000381970:D444H	ENSP00000381970:D444H	D	-	1	0	GIN1	102451740	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	4.681000	0.61663	2.817000	0.96982	0.563000	0.77884	GAT		0.303	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		G	102423841	C	G	102423841	3	3	462	1	0	0	0	0	1	0	0	0	6386	913	32	3	242	3	GIN1	5	102423841	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08		102423841	78491419	8	25180											
PCDHB3	56132	broad.mit.edu	37	5	140481609	140481609	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr5:140481609T>C	ENST00000231130.2	+	1	1376	c.1376T>C	c.(1375-1377)tTc>tCc	p.F459S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	459	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F459S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACACCCTGTTCGTCCGCGAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	5											89	86	87					5																	140481609		2203	4296	6499	140461793	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1376T>C	5.37:g.140481609T>C	ENSP00000231130:p.Phe459Ser		140461793	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.654639	0.29425	.	.	ENSG00000113205	ENST00000231130	T	0.03358	3.96	4.26	-8.52	0.00920	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01387	0.0045	N	0.04655	-0.195	0.09310	N	1	B	0.18013	0.025	B	0.18263	0.021	T	0.48163	-0.9059	9	0.59425	D	0.04	.	1.1444	0.01772	0.1609:0.2982:0.2515:0.2894	.	459	Q9Y5E6	PCDB3_HUMAN	S	459	ENSP00000231130:F459S	ENSP00000231130:F459S	F	+	2	0	PCDHB3	140461793	0.000000	0.05858	0.000000	0.03702	0.947000	0.59692	-1.065000	0.03458	-1.758000	0.01315	0.460000	0.39030	TTC		0.602	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		C	140481609	T	C	140481609	3	2	462	1	0	0	0	0	1	0	0	0	11543	1783	62	4	1378	4	PCDHB3	5	140481609	Missense_Mutation	SNP	T	TCGA-61-2111-01A-01W-0722-08	38057768	140481609	40433651	9	25181											
RANBP6	26953	broad.mit.edu	37	9	6013873	6013873	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr9:6013873C>T	ENST00000259569.5	-	1	1745	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	579					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E579K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATAAATTTTTCCTTCCCAACA	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											159	152	154					9																	6013873		2203	4300	6503	6003873	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1735G>A	9.37:g.6013873C>T	ENSP00000259569:p.Glu579Lys		6003873	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951946	0.53293	.	.	ENSG00000137040	ENST00000259569	T	0.68765	-0.35	3.76	2.86	0.33363	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.79470	0.4451	M	0.85859	2.78	0.80722	D	1	D;D	0.71674	0.998;0.987	D;P	0.64506	0.926;0.78	T	0.80808	-0.1217	10	0.62326	D	0.03	-11.9682	9.4465	0.38701	0.0:0.8934:0.0:0.1066	.	167;579	B4DTX6;O60518	.;RNBP6_HUMAN	K	579	ENSP00000259569:E579K	ENSP00000259569:E579K	E	-	1	0	RANBP6	6003873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.662000	0.61525	1.162000	0.42619	0.650000	0.86243	GAA		0.393	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		T	6013873	C	T	6013873	3	4	462	1	0	0	0	0	1	0	0	0	13034	864	30	2	1586	2	RANBP6	9	6013873	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08		6013873	135199558	10	25182											
ARHGAP21	57584	broad.mit.edu	37	10	24909163	24909163	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr10:24909163C>G	ENST00000396432.2	-	9	2147	c.1661G>C	c.(1660-1662)cGa>cCa	p.R554P	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R341P	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	553					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R553P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTGGAACCTCGAAAAGATTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	10											78	80	79					10																	24909163		2203	4300	6503	24949169	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1661G>C	10.37:g.24909163C>G	ENSP00000379709:p.Arg554Pro		24949169	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359370	0.61403	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.55234	2.5;2.6;0.53;0.55	5.5	4.55	0.56014	.	0.139058	0.47852	D	0.000212	T	0.69214	0.3086	M	0.68317	2.08	0.41373	D	0.987507	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.916	T	0.72043	-0.4409	10	0.54805	T	0.06	.	13.644	0.62270	0.0:0.9211:0.0:0.0789	.	544;553	F8W9U9;Q5T5U3	.;RHG21_HUMAN	P	554;543;341;544;554;389	ENSP00000379709:R554P;ENSP00000365604:R341P;ENSP00000365592:R544P;ENSP00000405018:R554P	ENSP00000365604:R341P	R	-	2	0	ARHGAP21	24949169	1.000000	0.71417	0.932000	0.37286	0.950000	0.60333	4.127000	0.57944	1.355000	0.45865	-0.355000	0.07637	CGA		0.403	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		G	24909163	C	G	24909163	3	3	462	1	0	0	0	0	1	0	0	0	871	884	31	3	4287	3	ARHGAP21	10	24909163	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08		24909163	110625584	11	25183											
DNMBP	23268	broad.mit.edu	37	10	101659761	101659761	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr10:101659761G>T	ENST00000324109.4	-	7	2708	c.2617C>A	c.(2617-2619)Cat>Aat	p.H873N	DNMBP_ENST00000543621.1_Missense_Mutation_p.H119N|DNMBP_ENST00000540316.1_5'Flank|DNMBP_ENST00000342239.3_Missense_Mutation_p.H873N	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	873	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H873N(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCCTCATCATGATTCTGGCAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	10											177	157	164					10																	101659761		2203	4300	6503	101649751	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2617C>A	10.37:g.101659761G>T	ENSP00000315659:p.His873Asn		101649751	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821271	0.90873	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.46063	0.88;2.18;2.18;1.45	5.48	5.48	0.80851	Dbl homology (DH) domain (5);	0.000000	0.50627	D	0.000109	T	0.65852	0.2731	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.63655	-0.6588	10	0.44086	T	0.13	-23.0668	19.7014	0.96054	0.0:0.0:1.0:0.0	.	873;119;873	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	N	873;873;119;119;161;161	ENSP00000344914:H873N;ENSP00000315659:H873N;ENSP00000443657:H119N;ENSP00000409476:H161N	ENSP00000315659:H873N	H	-	1	0	DNMBP	101649751	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.727000	0.98787	2.733000	0.93635	0.561000	0.74099	CAT		0.438	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		T	101659761	G	T	101659761	3	4	462	1	0	0	0	0	1	0	0	0	4674	1290	45	3	2160	3	DNMBP	10	101659761	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08	76750598	101659761	33874986	12	25184											
C10orf79	80217	broad.mit.edu	37	10	105920866	105920866	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr10:105920866C>T	ENST00000357060.3	-	27	3584	c.3469G>A	c.(3469-3471)Gaa>Aaa	p.E1157K	WDR96_ENST00000428666.1_Missense_Mutation_p.E1158K	NM_025145.5	NP_079421.5												p.E1157K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGTTTTCTTTCTTCTTCAGTC	0.323																																																1	Substitution - Missense(1)	ovary(1)	10											108	99	103					10																	105920866		2203	4299	6502	105910856	SO:0001583	missense	80217																														ENST00000357060.3:c.3469G>A	10.37:g.105920866C>T	ENSP00000349568:p.Glu1157Lys		105910856		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007324	0.93287	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.19250	2.16;2.18	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	M	0.86028	2.79	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.77557	0.972;0.99	T	0.58736	-0.7584	10	0.72032	D	0.01	.	19.4031	0.94639	0.0:1.0:0.0:0.0	.	1158;1157	G5E9L1;Q8NDM7	.;WDR96_HUMAN	K	1157;1158	ENSP00000349568:E1157K;ENSP00000400289:E1158K	ENSP00000349568:E1157K	E	-	1	0	WDR96	105910856	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.100000	0.71473	2.671000	0.90904	0.655000	0.94253	GAA		0.323	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	105920866	C	T	105920866	3	4	462	1	0	0	0	0	1	0	0	0	1618	922	32	2	1576	2	C10orf79	10	105920866	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08	4261105	105920866	29613881	13	25185											
KIF18A	81930	broad.mit.edu	37	11	28045385	28045385	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:28045385G>C	ENST00000263181.6	-	16	2807	c.2517C>G	c.(2515-2517)aaC>aaG	p.N839K		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	839					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.N839K(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTAACGAACTGTTTGATGTAG	0.323																																																1	Substitution - Missense(1)	ovary(1)	11											100	92	95					11																	28045385		2201	4299	6500	28001961	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2517C>G	11.37:g.28045385G>C	ENSP00000263181:p.Asn839Lys		28001961	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	3.922	-0.017864	0.07681	.	.	ENSG00000121621	ENST00000263181	T	0.73575	-0.76	5.56	1.97	0.26223	.	0.659654	0.16138	N	0.227865	T	0.60996	0.2312	L	0.32530	0.975	0.09310	N	1	B	0.24186	0.099	B	0.25405	0.06	T	0.53899	-0.8373	10	0.54805	T	0.06	.	7.3032	0.26432	0.719:0.0:0.281:0.0	.	839	Q8NI77	KI18A_HUMAN	K	839	ENSP00000263181:N839K	ENSP00000263181:N839K	N	-	3	2	KIF18A	28001961	0.139000	0.22563	0.126000	0.21872	0.031000	0.12232	0.817000	0.27281	0.485000	0.27652	-0.302000	0.09304	AAC		0.323	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		C	28045385	G	C	28045385	3	2	462	1	0	0	0	0	1	0	0	0	8280	1368	48	3	187	3	KIF18A	11	28045385	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08		28045385	106961131	14	25186											
TTC17	55761	broad.mit.edu	37	11	43429058	43429058	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:43429058G>C	ENST00000039989.4	+	15	2009	c.1995G>C	c.(1993-1995)ttG>ttC	p.L665F	TTC17_ENST00000299240.6_Missense_Mutation_p.L665F|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	665					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L665F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCAACCTTTTGATTCATTACG	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											108	92	97					11																	43429058		2203	4300	6503	43385634	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1995G>C	11.37:g.43429058G>C	ENSP00000039989:p.Leu665Phe		43385634	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590986	0.66219	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.61274	0.12;0.12	5.63	4.69	0.59074	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	M	0.62209	1.925	0.50039	D	0.999843	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.68941	-0.5276	10	0.54805	T	0.06	-7.8068	5.6698	0.17715	0.1664:0.0:0.6775:0.1562	.	665;665;665	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	F	665	ENSP00000299240:L665F;ENSP00000039989:L665F	ENSP00000039989:L665F	L	+	3	2	TTC17	43385634	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.211000	0.58507	1.296000	0.44742	0.591000	0.81541	TTG		0.423	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		C	43429058	G	C	43429058	3	2	462	1	0	0	0	0	1	0	0	0	16684	1281	45	3	2053	3	TTC17	11	43429058	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08	15383673	43429058	91577458	15	25187											
SSSCA1	10534	broad.mit.edu	37	11	65337979	65337979	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:65337979C>A	ENST00000309328.3	+	1	79	c.17C>A	c.(16-18)gCt>gAt	p.A6D	SSSCA1_ENST00000531405.1_5'UTR|FAM89B_ENST00000316409.2_5'Flank|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_Missense_Mutation_p.A6D|FAM89B_ENST00000530349.1_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	6					mitotic nuclear division (GO:0007067)			p.A6D(1)		kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CTGAACGGAGCTGGTGAGGAC	0.662																																																1	Substitution - Missense(1)	ovary(1)	11											58	59	59					11																	65337979		2201	4297	6498	65094555	SO:0001583	missense	10534			AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"Sjogren's syndrome/scleroderma autoantigen 1"			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.17C>A	11.37:g.65337979C>A	ENSP00000312318:p.Ala6Asp		65094555		Missense_Mutation	SNP	ENST00000309328.3	37	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164173	0.38217	.	.	ENSG00000173465	ENST00000309328;ENST00000526877	T;T	0.51574	0.77;0.7	5.54	4.63	0.57726	.	0.135826	0.48767	D	0.000172	T	0.21718	0.0523	N	0.04880	-0.145	0.44570	D	0.997534	P	0.43094	0.799	B	0.36030	0.216	T	0.05338	-1.0891	10	0.15499	T	0.54	-1.5711	10.0133	0.41999	0.0:0.9074:0.0:0.0926	.	6	O60232	SSA27_HUMAN	D	6	ENSP00000312318:A6D;ENSP00000431666:A6D	ENSP00000312318:A6D	A	+	2	0	SSSCA1	65094555	0.449000	0.25689	0.838000	0.33150	0.071000	0.16799	2.184000	0.42575	1.337000	0.45525	0.561000	0.74099	GCT		0.662	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		A	65337979	C	A	65337979	3	1	462	1	0	0	0	0	1	0	0	0	15197	797	28	3	19	3	SSSCA1	11	65337979	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08	21908921	65337979	69668537	16	25188											
TRPC6	7225	broad.mit.edu	37	11	101374891	101374891	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:101374891G>T	ENST00000344327.3	-	2	1233	c.809C>A	c.(808-810)tCc>tAc	p.S270Y	TRPC6_ENST00000360497.4_Missense_Mutation_p.S270Y|TRPC6_ENST00000532133.1_Missense_Mutation_p.S270Y|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000348423.4_Missense_Mutation_p.S270Y	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	270			S -> T (in FSGS2). {ECO:0000269|PubMed:15924139}.		aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S270Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTAGATCTGGAGTGGCTAAA	0.468																																					Colon(166;1315 1927 11094 12848 34731)											1	Substitution - Missense(1)	ovary(1)	11											149	144	146					11																	101374891		2203	4299	6502	100880101	SO:0001583	missense	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.809C>A	11.37:g.101374891G>T	ENSP00000340913:p.Ser270Tyr		100880101	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497523	0.85069	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.84	5.84	0.93424	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.95121	0.8419	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95307	0.8408	10	0.87932	D	0	-6.1183	20.1438	0.98071	0.0:0.0:1.0:0.0	.	270;270;270	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	Y	270	ENSP00000340913:S270Y;ENSP00000435574:S270Y;ENSP00000343672:S270Y;ENSP00000353687:S270Y	ENSP00000340913:S270Y	S	-	2	0	TRPC6	100880101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	TCC		0.468	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		T	101374891	G	T	101374891	3	4	462	1	0	0	0	0	1	0	0	0	16583	1174	41	3	2034	3	TRPC6	11	101374891	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08	36036912	101374891	33631625	17	25189											
USP2	9099	broad.mit.edu	37	11	119227995	119227995	+	Silent	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:119227995G>A	ENST00000260187.2	-	12	1926	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y	USP2_ENST00000525735.1_Silent_p.Y335Y|USP2_ENST00000455332.2_Silent_p.Y301Y	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	544	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y544Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGGACACAGCGTACAGGTTGT	0.602																																																1	Substitution - coding silent(1)	ovary(1)	11											95	84	88					11																	119227995		2199	4295	6494	118733205	SO:0001819	synonymous_variant	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1632C>T	11.37:g.119227995G>A			118733205	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	CCDS8422.1																																																																																				0.602	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		A	119227995	G	A	119227995	2	1	462	1	0	0	0	0	0	0	0	1	17051	1140	40	1		1	USP2	11	119227995	Silent	SNP	G	TCGA-61-2111-01A-01W-0722-08	17853104	119227995	15778521	18	25190											
ZBTB44	29068	broad.mit.edu	37	11	130130762	130130762	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:130130762G>A	ENST00000357899.4	-	2	1279	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	ZBTB44_ENST00000525842.1_Missense_Mutation_p.S336F|ZBTB44_ENST00000530205.1_Missense_Mutation_p.S336F|ZBTB44_ENST00000397753.1_Missense_Mutation_p.S336F			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S336F(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TATAGAGGAAGACTGTGGACT	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											91	86	87					11																	130130762		1892	4109	6001	129635972	SO:0001583	missense	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1007C>T	11.37:g.130130762G>A	ENSP00000350574:p.Ser336Phe		129635972	Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.730743|3.730743	0.69074|0.69074	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	.|T;T;T;T;T	.|0.14144	.|2.53;2.8;2.57;2.8;2.53	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.050705	.|0.85682	.|D	.|0.000000	T|T	0.27967|0.27967	0.0689|0.0689	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;P	.|0.69078	.|0.997;0.997;0.995;0.693	.|D;D;D;P	.|0.80764	.|0.994;0.994;0.979;0.46	T|T	0.02975|0.02975	-1.1087|-1.1087	5|10	.|0.72032	.|D	.|0.01	.|.	19.3282|19.3282	0.94273|0.94273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|336;336;336;336	.|Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.;.;ZBT44_HUMAN;.	F|F	190|336	.|ENSP00000433457:S336F;ENSP00000380861:S336F;ENSP00000408079:S336F;ENSP00000350574:S336F;ENSP00000434177:S336F	.|ENSP00000350574:S336F	L|S	-|-	1|2	0|0	ZBTB44|ZBTB44	129635972|129635972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.434000|9.434000	0.97515|0.97515	2.566000|2.566000	0.86566|0.86566	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.423	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		A	130130762	G	A	130130762	3	1	462	1	0	0	0	0	1	0	0	0	17545	942	33	2	374	2	ZBTB44	11	130130762	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08	10902767	130130762	4875754	19	25191											
PRMT8	56341	broad.mit.edu	37	12	3702270	3702270	+	Silent	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr12:3702270C>T	ENST00000382622.3	+	10	1497	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.D360D	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	369	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.D369D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGCAGCGAGACCTCGATTTCA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	12											95	78	84					12																	3702270		2203	4300	6503	3572531	SO:0001819	synonymous_variant	56341			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1107C>T	12.37:g.3702270C>T			3572531	B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	CCDS8521.2																																																																																				0.537	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		T	3702270	C	T	3702270	2	4	462	1	0	0	0	0	0	0	0	1	12545	506	18	2		2	PRMT8	12	3702270	Silent	SNP	C	TCGA-61-2111-01A-01W-0722-08		3702270	130149625	20	25192											
SLC39A5	283375	broad.mit.edu	37	12	56630437	56630437	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr12:56630437G>A	ENST00000266980.4	+	8	1407	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	SLC39A5_ENST00000454355.2_Missense_Mutation_p.G372S|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	372					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.G371S(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGGCACCAAGGCCACAGTCA	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											103	93	96					12																	56630437		2203	4300	6503	54916704	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1114G>A	12.37:g.56630437G>A	ENSP00000266980:p.Gly372Ser		54916704	B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202111	0.58234	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.45668	0.89;0.89	4.96	3.14	0.36123	.	0.366378	0.23819	N	0.044242	T	0.32346	0.0826	L	0.50847	1.595	0.46260	D	0.998959	P	0.41475	0.751	B	0.40375	0.327	T	0.08576	-1.0715	10	0.09084	T	0.74	-11.5812	8.6729	0.34161	0.2483:0.0:0.7517:0.0	.	372	Q6ZMH5	S39A5_HUMAN	S	372	ENSP00000405360:G372S;ENSP00000266980:G372S	ENSP00000266980:G372S	G	+	1	0	SLC39A5	54916704	0.840000	0.29493	1.000000	0.80357	0.977000	0.68977	1.249000	0.32839	0.816000	0.34421	0.655000	0.94253	GGC		0.617	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		A	56630437	G	A	56630437	3	1	462	1	0	0	0	0	1	0	0	0	14624	1000	35	2	1140	2	SLC39A5	12	56630437	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08	52928167	56630437	77221458	21	25193											
PIWIL1	9271	broad.mit.edu	37	12	130831585	130831585	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr12:130831585T>A	ENST00000245255.3	+	6	903	c.631T>A	c.(631-633)Ttc>Atc	p.F211I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	211					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.F211I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGTTTGCAGTTCTATAATAT	0.328																																																1	Substitution - Missense(1)	ovary(1)	12											98	94	96					12																	130831585		2203	4300	6503	129397538	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.631T>A	12.37:g.130831585T>A	ENSP00000245255:p.Phe211Ile		129397538	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.505097	0.64410	.	.	ENSG00000125207	ENST00000245255;ENST00000540672	T;T	0.09445	2.98;2.98	5.53	5.53	0.82687	Argonaute/Dicer protein, PAZ (1);	0.045624	0.85682	D	0.000000	T	0.15132	0.0365	L	0.48362	1.52	0.58432	D	0.999992	P;P	0.47677	0.899;0.57	P;B	0.46110	0.504;0.219	T	0.01639	-1.1306	10	0.36615	T	0.2	-3.964	14.8477	0.70272	0.0:0.0:0.0:1.0	.	211;211	Q96J94;Q96J94-2	PIWL1_HUMAN;.	I	211;72	ENSP00000245255:F211I;ENSP00000441695:F72I	ENSP00000245255:F211I	F	+	1	0	PIWIL1	129397538	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.080000	0.64437	2.090000	0.63153	0.528000	0.53228	TTC		0.328	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			A	130831585	T	A	130831585	3	1	462	1	0	0	0	0	1	0	0	0	11957	1725	60	5	649	5	PIWIL1	12	130831585	Missense_Mutation	SNP	T	TCGA-61-2111-01A-01W-0722-08	74201148	130831585	3020310	22	25194											
RBM25	58517	broad.mit.edu	37	14	73578334	73578334	+	Missense_Mutation	SNP	G	G	A	rs369541790		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr14:73578334G>A	ENST00000261973.7	+	16	2401	c.2116G>A	c.(2116-2118)Gta>Ata	p.V706I	RBM25_ENST00000527432.1_Missense_Mutation_p.V706I|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	706					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V706I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CAGTGATGACGTACCCCGAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	14						G	ILE/VAL	0,4406		0,0,2203	116	111	113		2116	5.9	1	14		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBM25	NM_021239.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	706/844	73578334	1,13005	2203	4300	6503	72648087	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2116G>A	14.37:g.73578334G>A	ENSP00000261973:p.Val706Ile		72648087	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722322	0.48728	0.0	1.16E-4	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.11495	2.77;2.77	5.93	5.93	0.95920	.	0.234732	0.43260	D	0.000596	T	0.08980	0.0222	N	0.22421	0.69	0.80722	D	1	D	0.54601	0.967	B	0.43478	0.421	T	0.37220	-0.9715	10	0.17832	T	0.49	.	14.495	0.67680	0.0697:0.0:0.9303:0.0	.	706	P49756	RBM25_HUMAN	I	706	ENSP00000261973:V706I;ENSP00000431150:V706I	ENSP00000261973:V706I	V	+	1	0	RBM25	72648087	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	5.305000	0.65750	2.814000	0.96858	0.591000	0.81541	GTA		0.393	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		A	73578334	G	A	73578334	3	1	462	1	0	0	0	0	1	0	0	0	13128	1145	40	1	2174	1	RBM25	14	73578334	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08		73578334	33771206	23	25195											
OR4N4	283694	broad.mit.edu	37	15	22382523	22382523	+	Silent	SNP	G	G	C			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr15:22382523G>C	ENST00000328795.4	+	1	142	c.51G>C	c.(49-51)ctG>ctC	p.L17L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L17L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCTTGGTCTGACTCAGTCTC	0.353																																																1	Substitution - coding silent(1)	ovary(1)	15											137	134	135					15																	22382523		2187	4260	6447	19883887	SO:0001819	synonymous_variant	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.51G>C	15.37:g.22382523G>C			19883887	Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																				0.353	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			C	22382523	G	C	22382523	2	2	462	1	0	0	0	0	0	0	0	1	11078	1277	45	3		3	OR4N4	15	22382523	Silent	SNP	G	TCGA-61-2111-01A-01W-0722-08		22382523	80148869	24	25196											
MGA	23269	broad.mit.edu	37	15	42041563	42041563	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr15:42041563A>G	ENST00000570161.1	+	16	5758	c.5758A>G	c.(5758-5760)Acc>Gcc	p.T1920A	MGA_ENST00000566586.1_Missense_Mutation_p.T1711A|MGA_ENST00000545763.1_Missense_Mutation_p.T1711A|MGA_ENST00000219905.7_Missense_Mutation_p.T1920A|MGA_ENST00000389936.4_Missense_Mutation_p.T1881A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.T1969A(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCTCTGAAACCAAAATAAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	15											60	55	57					15																	42041563		1874	4103	5977	39828855	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5758A>G	15.37:g.42041563A>G	ENSP00000457035:p.Thr1920Ala		39828855	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194424	0.38806	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.24350	1.86;1.86;1.86	5.72	4.56	0.56223	.	0.385199	0.22241	N	0.062697	T	0.11153	0.0272	N	0.08118	0	0.19945	N	0.999945	B;B;B;B	0.34372	0.451;0.433;0.048;0.048	B;B;B;B	0.33454	0.079;0.164;0.05;0.05	T	0.09058	-1.0692	10	0.38643	T	0.18	.	4.625	0.12474	0.624:0.0:0.0946:0.2814	.	536;1711;1920;1881	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	A	1920;1881;1711	ENSP00000219905:T1920A;ENSP00000374586:T1881A;ENSP00000442467:T1711A	ENSP00000219905:T1920A	T	+	1	0	MGA	39828855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.062000	0.41413	2.184000	0.69523	0.460000	0.39030	ACC		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		G	42041563	A	G	42041563	3	3	462	1	0	0	0	0	1	0	0	0	9540	43	2	4	5820	4	MGA	15	42041563	Missense_Mutation	SNP	A	TCGA-61-2111-01A-01W-0722-08	19659040	42041563	60489829	25	25197											
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr17:7577551C>A	ENST00000269305.4	-	7	919	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000359597.4_Missense_Mutation_p.G244C|TP53_ENST00000445888.2_Missense_Mutation_p.G244C|TP53_ENST00000455263.2_Missense_Mutation_p.G244C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G244C|TP53_ENST00000420246.2_Missense_Mutation_p.G244C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCATGCCGCCCATGCAGGAA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	17											147	111	123					17																	7577551		2203	4300	6503	7518276	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>T	17.37:g.7577551C>A	ENSP00000269305:p.Gly244Cys		7518276	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604756	0.87157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244C;ENSP00000352610:G244C;ENSP00000269305:G244C;ENSP00000398846:G244C;ENSP00000391127:G244C;ENSP00000391478:G244C;ENSP00000425104:G112C;ENSP00000423862:G151C	ENSP00000269305:G244C	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577551	C	A	7577551	3	1	462	1	0	0	0	0	1	0	0	0	16381	623	22	3	560	3	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08		7577551	73617659	26	25198											
STAT5B	6777	broad.mit.edu	37	17	40359726	40359726	+	Missense_Mutation	SNP	G	G	C	rs150697956	byFrequency	TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr17:40359726G>C	ENST00000293328.3	-	16	2095	c.1927C>G	c.(1927-1929)Ctg>Gtg	p.L643V		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	643	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L643V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AAAGGCATCAGATTCCAAAAC	0.388																																																1	Substitution - Missense(1)	ovary(1)	17											97	96	96					17																	40359726		2203	4300	6503	37613252	SO:0001583	missense	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1927C>G	17.37:g.40359726G>C	ENSP00000293328:p.Leu643Val		37613252	Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215254	0.95104	.	.	ENSG00000173757	ENST00000293328	D	0.96011	-3.88	5.33	5.33	0.75918	SH2 motif (4);	0.135575	0.52532	D	0.000078	D	0.96266	0.8782	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95003	0.8145	10	0.30854	T	0.27	-8.9333	19.2079	0.93742	0.0:0.0:1.0:0.0	.	643	P51692	STA5B_HUMAN	V	643	ENSP00000293328:L643V	ENSP00000293328:L643V	L	-	1	2	STAT5B	37613252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.828000	0.86729	2.768000	0.95171	0.655000	0.94253	CTG		0.388	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		C	40359726	G	C	40359726	3	2	462	1	0	0	0	0	1	0	0	0	15271	933	33	3	452	3	STAT5B	17	40359726	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08	32782175	40359726	40835484	27	25199											
ATP8B1	5205	broad.mit.edu	37	18	55355593	55355593	+	Missense_Mutation	SNP	G	G	A	rs121909104		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr18:55355593G>A	ENST00000283684.4	-	12	1366	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.T456M			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	456			T -> M (in PFIC1). {ECO:0000269|PubMed:15239083}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T456M(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGTGTCCCCGTCTTATCAGA	0.453																																																1	Substitution - Missense(1)	ovary(1)	18	GRCh37	CM043817	ATP8B1	M	rs121909104						245	216	226					18																	55355593		2203	4300	6503	53506591	SO:0001583	missense	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1367C>T	18.37:g.55355593G>A	ENSP00000283684:p.Thr456Met		53506591	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801038	0.90538	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.72615	-0.67;-0.67	5.92	5.92	0.95590	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93524	0.6864	10	0.87932	D	0	.	19.9157	0.97061	0.0:0.0:1.0:0.0	.	456	O43520	AT8B1_HUMAN	M	456	ENSP00000283684:T456M;ENSP00000445359:T456M	ENSP00000283684:T456M	T	-	2	0	ATP8B1	53506591	1.000000	0.71417	0.959000	0.39883	0.863000	0.49368	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	ACG		0.453	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		A	55355593	G	A	55355593	3	1	462	1	0	0	0	0	1	0	0	0	1194	1145	40	1	2452	1	ATP8B1	18	55355593	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08		55355593	22721655	28	25200											
PPP2R1A	5518	broad.mit.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617			Mis		clear cell ovarian carcinoma																																		Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	24	Substitution - Missense(24)	ovary(16)|endometrium(4)|large_intestine(3)|pancreas(1)	19											69	57	61					19																	52715982		2203	4300	6503	57407794	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.547C>T	19.37:g.52715982C>T	ENSP00000324804:p.Arg183Trp		57407794	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360081	0.82353	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.34193	0.0889	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	T	0.40459	-0.9562	10	0.87932	D	0	-15.4468	10.2034	0.43099	0.1981:0.8019:0.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	W	173;103;183;128	ENSP00000324804:R183W;ENSP00000415067:R128W	ENSP00000324804:R183W	R	+	1	2	PPP2R1A	57407794	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.933000	0.63484	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		T	52715982	C	T	52715982	3	4	462	1	0	0	0	0	1	0	0	0	12385	759	27	1	565	1	PPP2R1A	19	52715982	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08		52715982	6413001	29	25201											
VSTM2L	128434	broad.mit.edu	37	20	36572444	36572444	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr20:36572444C>T	ENST00000373461.4	+	4	651	c.404C>T	c.(403-405)aCg>aTg	p.T135M	VSTM2L_ENST00000373459.4_Silent_p.H61H|VSTM2L_ENST00000373458.3_Missense_Mutation_p.T118M	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	135	Ig-like.							p.T135M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GTGAAGCCCACGGACGAAGGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	20											57	38	45					20																	36572444		2203	4300	6503	36005858	SO:0001583	missense	128434			AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"Immunoglobulin superfamily / V-set domain containing"	16096	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 102"	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.404C>T	20.37:g.36572444C>T	ENSP00000362560:p.Thr135Met		36005858	E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083577	0.76642	.	.	ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944	T;T;T	0.28255	1.62;1.62;1.62	5.44	5.44	0.79542	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111045	0.64402	D	0.000006	T	0.41650	0.1168	L	0.50333	1.59	0.37039	D	0.897056	D	0.67145	0.996	P	0.53722	0.733	T	0.46062	-0.9218	10	0.54805	T	0.06	-26.7824	14.745	0.69483	0.1449:0.8551:0.0:0.0	.	135	Q96N03	VTM2L_HUMAN	M	118;135;118	ENSP00000362557:T118M;ENSP00000362560:T135M;ENSP00000406537:T118M	ENSP00000362557:T118M	T	+	2	0	VSTM2L	36005858	0.995000	0.38212	1.000000	0.80357	0.984000	0.73092	3.052000	0.49893	2.550000	0.86006	0.462000	0.41574	ACG		0.647	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1			T	36572444	C	T	36572444	3	4	462	1	0	0	0	0	1	0	0	0	17230	536	19	1	418	1	VSTM2L	20	36572444	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08		36572444	26453076	30	25202											
KRTAP13-1	140258	broad.mit.edu	37	21	31768590	31768590	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr21:31768590G>T	ENST00000355459.2	+	1	199	c.186G>T	c.(184-186)gaG>gaT	p.E62D		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	62	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.E62D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCTGGGAGCCCACCAGCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	21											58	59	59					21																	31768590		2203	4300	6503	30690461	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.186G>T	21.37:g.31768590G>T	ENSP00000347635:p.Glu62Asp		30690461	Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	14.12	2.442049	0.43326	.	.	ENSG00000198390	ENST00000355459	T	0.08458	3.09	4.51	0.72	0.18214	.	0.341119	0.20447	N	0.092171	T	0.11495	0.0280	M	0.83953	2.67	0.09310	N	1	B	0.22746	0.074	B	0.24701	0.055	T	0.20940	-1.0260	10	0.56958	D	0.05	.	4.3628	0.11210	0.3621:0.1599:0.478:0.0	.	62	Q8IUC0	KR131_HUMAN	D	62	ENSP00000347635:E62D	ENSP00000347635:E62D	E	+	3	2	KRTAP13-1	30690461	0.000000	0.05858	0.108000	0.21378	0.236000	0.25371	-0.813000	0.04491	0.119000	0.18210	0.557000	0.71058	GAG		0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			T	31768590	G	T	31768590	3	4	462	1	0	0	0	0	1	0	0	0	8522	962	34	3	188	3	KRTAP13-1	21	31768590	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08		31768590	16361305	31	25203											
MYH9	4627	broad.mit.edu	37	22	36696211	36696211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr22:36696211G>A	ENST00000216181.5	-	23	3168	c.2938C>T	c.(2938-2940)Cag>Tag	p.Q980*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	980					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.Q980*(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGGATGATCTGCTCCTCCTCC	0.647			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	1	Substitution - Nonsense(1)	ovary(1)	22											97	85	89					22																	36696211		2203	4300	6503	35026157	SO:0001587	stop_gained	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2938C>T	22.37:g.36696211G>A	ENSP00000216181:p.Gln980*		35026157	A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	43	9.972419	0.99308	.	.	ENSG00000100345	ENST00000216181	.	.	.	5.63	4.59	0.56863	.	0.211098	0.37715	N	0.001964	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.9924	0.47557	0.0:0.2511:0.6243:0.1246	.	.	.	.	X	980	.	ENSP00000216181:Q980X	Q	-	1	0	MYH9	35026157	0.831000	0.29352	1.000000	0.80357	0.955000	0.61496	1.315000	0.33608	1.326000	0.45319	0.655000	0.94253	CAG		0.647	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		A	36696211	G	A	36696211	4	1	462	1	0	0	0	0	0	1	0	0	10042	1328	46	2	3020	2	MYH9	22	36696211	Nonsense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08		36696211	14608355	32	25204											
FIGF	2277	broad.mit.edu	37	X	15376214	15376214	+	Missense_Mutation	SNP	G	G	A	rs201472376		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chrX:15376214G>A	ENST00000297904.3	-	3	832	c.403C>T	c.(403-405)Cct>Tct	p.P135S		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	135					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.P135S(1)|p.P135T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTCACACAAGGGGGCTTGAAG	0.488																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	X											263	212	230					X																	15376214		2203	4300	6503	15286135	SO:0001583	missense	2277			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.403C>T	X.37:g.15376214G>A	ENSP00000297904:p.Pro135Ser		15286135	B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468360	0.84533	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.11	5.11	0.69529	Platelet-derived growth factor, conserved site (1);Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59129	-0.7512	9	0.21014	T	0.42	-34.6502	16.7771	0.85553	0.0:0.0:1.0:0.0	.	135	O43915	VEGFD_HUMAN	S	135	.	ENSP00000297904:P135S	P	-	1	0	FIGF	15286135	1.000000	0.71417	0.610000	0.28997	0.990000	0.78478	9.416000	0.97383	2.254000	0.74563	0.529000	0.55759	CCT		0.488	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		A	15376214	G	A	15376214	3	1	462	1	0	0	0	0	1	0	0	0	5889	1232	43	2	681	2	FIGF	23	15376214	Missense_Mutation	SNP	G	TCGA-61-2111-01A-01W-0722-08		15376214	139894346	33	25205											
SLC25A14	9016	broad.mit.edu	37	X	129479159	129479159	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chrX:129479159C>A	ENST00000218197.5	+	2	306	c.79C>A	c.(79-81)Cag>Aag	p.Q27K	SLC25A14_ENST00000361980.5_Missense_Mutation_p.Q24K|SLC25A14_ENST00000339231.3_Missense_Mutation_p.Q24K|SLC25A14_ENST00000543953.1_5'UTR|SLC25A14_ENST00000545805.1_Missense_Mutation_p.Q27K|SLC25A14_ENST00000467496.1_3'UTR	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	27					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.Q27K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TTTTTAGCACCAGAAAAGTAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											172	139	150					X																	129479159		2203	4300	6503	129306840	SO:0001583	missense	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"Solute carriers"	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.79C>A	X.37:g.129479159C>A	ENSP00000218197:p.Gln27Lys		129306840	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416242	0.42918	.	.	ENSG00000102078	ENST00000424447;ENST00000545805;ENST00000218197;ENST00000361980;ENST00000339231	T;T;T;T;T	0.80994	-1.1;-1.37;-1.35;-1.44;-1.26	4.79	4.79	0.61399	.	.	.	.	.	T	0.78039	0.4221	N	0.08118	0	0.80722	D	1	B;P;P	0.37398	0.114;0.593;0.458	B;P;P	0.57846	0.033;0.828;0.678	T	0.76052	-0.3100	9	0.25106	T	0.35	-6.5974	14.3284	0.66534	0.0:1.0:0.0:0.0	.	24;24;27	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	K	27;27;27;24;24	ENSP00000402578:Q27K;ENSP00000444642:Q27K;ENSP00000218197:Q27K;ENSP00000354455:Q24K;ENSP00000342797:Q24K	ENSP00000218197:Q27K	Q	+	1	0	SLC25A14	129306840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.133000	0.57983	2.348000	0.79779	0.594000	0.82650	CAG		0.373	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		A	129479159	C	A	129479159	3	1	462	1	0	0	0	0	1	0	0	0	14479	595	21	3	85	3	SLC25A14	23	129479159	Missense_Mutation	SNP	C	TCGA-61-2111-01A-01W-0722-08	114102945	129479159	25791401	34	25206											
RCC1	1104	broad.mit.edu	37	1	28863288	28863288	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr1:28863288T>G	ENST00000373833.6	+	12	1252	c.967T>G	c.(967-969)Tat>Gat	p.Y323D	RCC1_ENST00000373832.1_Missense_Mutation_p.Y323D|RCC1_ENST00000398958.2_Missense_Mutation_p.Y323D|RCC1_ENST00000373831.3_Missense_Mutation_p.Y354D			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	323					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.Y323D(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGGCTGAGTATGGGCGGCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											95	96	96					1																	28863288		2203	4300	6503	28735875	SO:0001583	missense	1104			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.967T>G	1.37:g.28863288T>G	ENSP00000362939:p.Tyr323Asp		28735875	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.977065	0.74360	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.91310	0.7260	M	0.65677	2.01	0.80722	D	1	D;D;D	0.89917	0.99;1.0;1.0	P;D;D	0.97110	0.79;1.0;0.999	D	0.92053	0.5650	10	0.72032	D	0.01	-11.1551	14.9715	0.71238	0.0:0.0:0.0:1.0	.	354;340;323	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	D	323;323;323;354;340	ENSP00000381931:Y323D;ENSP00000362939:Y323D;ENSP00000362938:Y323D;ENSP00000362937:Y354D;ENSP00000413644:Y340D	ENSP00000362937:Y354D	Y	+	1	0	RCC1	28735875	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.005000	0.88553	2.212000	0.71576	0.533000	0.62120	TAT		0.607	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		G	28863288	T	G	28863288	3	3	463	1	0	0	0	0	1	0	0	0	13176	1638	57	5	1094	5	RCC1	1	28863288	Missense_Mutation	SNP	T	TCGA-61-2113-01A-01W-0722-08		28863288	220387333	1	25207											
FMO5	2330	broad.mit.edu	37	1	146673058	146673058	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr1:146673058C>T	ENST00000254090.4	-	7	1247	c.859G>A	c.(859-861)Gat>Aat	p.D287N	FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.D287N	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	287						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.D287N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GGCAGGTCATCATTTAAGGTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	1											65	65	65					1																	146673058		2203	4300	6503	145139682	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.859G>A	1.37:g.146673058C>T	ENSP00000254090:p.Asp287Asn		145139682	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	35	5.436758	0.96168	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.63744	-0.06;-0.06	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.76916	-0.2782	9	.	.	.	-17.6682	18.3732	0.90420	0.0:1.0:0.0:0.0	.	287;287	P49326;C9JJD1	FMO5_HUMAN;.	N	287	ENSP00000416011:D287N;ENSP00000254090:D287N	.	D	-	1	0	FMO5	145139682	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.782000	0.85680	2.941000	0.99782	0.655000	0.94253	GAT		0.423	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		T	146673058	C	T	146673058	3	4	463	1	0	0	0	0	1	0	0	0	5958	826	29	2	897	2	FMO5	1	146673058	Missense_Mutation	SNP	C	TCGA-61-2113-01A-01W-0722-08	117809770	146673058	102577563	2	25208											
FLG	2312	broad.mit.edu	37	1	152285796	152285796	+	Silent	SNP	T	T	G			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr1:152285796T>G	ENST00000368799.1	-	3	1601	c.1566A>C	c.(1564-1566)tcA>tcC	p.S522S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	522	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S522S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTCTGCTTGACCCCGGGT	0.592									Ichthyosis																																							1	Substitution - coding silent(1)	ovary(1)	1											360	359	359					1																	152285796		2203	4300	6503	150552420	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1566A>C	1.37:g.152285796T>G			150552420	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152285796	T	G	152285796	2	3	463	1	0	0	0	0	0	0	0	1	5922	1799	63	5		5	FLG	1	152285796	Silent	SNP	T	TCGA-61-2113-01A-01W-0722-08	5612738	152285796	96964825	3	25209											
MYO3B	140469	broad.mit.edu	37	2	171260805	171260805	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr2:171260805G>C	ENST00000408978.4	+	20	2469	c.2326G>C	c.(2326-2328)Gac>Cac	p.D776H	MYO3B_ENST00000334231.6_Missense_Mutation_p.D785H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.D776H	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	776	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.D776H(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGAATATGAGGACAACCGCCC	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											143	135	138					2																	171260805		1919	4132	6051	170969051	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2326G>C	2.37:g.171260805G>C	ENSP00000386213:p.Asp776His		170969051	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186051	0.78789	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.47	5.47	0.80525	Myosin head, motor domain (3);	0.088391	0.85682	D	0.000000	D	0.92909	0.7744	H	0.97491	4.015	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	D	0.94918	0.8071	10	0.87932	D	0	.	19.686	0.95979	0.0:0.0:1.0:0.0	.	776;776;776	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	H	776;776;775;785;785	ENSP00000386497:D776H;ENSP00000386213:D776H;ENSP00000446237:D785H;ENSP00000335100:D785H	ENSP00000314213:D775H	D	+	1	0	MYO3B	170969051	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.871000	0.87180	2.728000	0.93425	0.655000	0.94253	GAC		0.512	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			C	171260805	G	C	171260805	3	2	463	1	0	0	0	0	1	0	0	0	10077	1174	41	3	2404	3	MYO3B	2	171260805	Missense_Mutation	SNP	G	TCGA-61-2113-01A-01W-0722-08		171260805	71938568	4	25210											
SLITRK3	22865	broad.mit.edu	37	3	164905717	164905717	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr3:164905717C>A	ENST00000475390.1	-	2	3345	c.2902G>T	c.(2902-2904)Gaa>Taa	p.E968*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.E968*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	968					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E968*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCAGGACTTCGAGGTAATCC	0.388										HNSCC(40;0.11)																																						1	Substitution - Nonsense(1)	ovary(1)	3											135	134	134					3																	164905717		2203	4300	6503	166388411	SO:0001587	stop_gained	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2902G>T	3.37:g.164905717C>A	ENSP00000420091:p.Glu968*		166388411	Q1RMY6	Nonsense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	43	10.499899	0.99416	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	.	.	.	5.97	5.97	0.96955	.	0.000000	0.35708	N	0.003029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.5308	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	968	.	ENSP00000241274:E968X	E	-	1	0	SLITRK3	166388411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.836000	0.97738	0.655000	0.94253	GAA		0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		A	164905717	C	A	164905717	4	1	463	1	0	0	0	0	0	1	0	0	14747	893	31	3	35	3	SLITRK3	3	164905717	Nonsense_Mutation	SNP	C	TCGA-61-2113-01A-01W-0722-08		164905717	33116713	5	25211											
ETV5	2119	broad.mit.edu	37	3	185823281	185823281	+	Silent	SNP	T	T	A			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr3:185823281T>A	ENST00000306376.5	-	4	384	c.138A>T	c.(136-138)ctA>ctT	p.L46L	ETV5_ENST00000434744.1_Silent_p.L46L|DGKG_ENST00000447054.1_5'Flank|ETV5_ENST00000537818.1_Silent_p.L88L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	46					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L46L(1)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GATCCTGAAATAGCTCTGAAA	0.403			T	"TMPRSS2, SCL45A3"	Prostate																																		Dom	yes		3	3q28	2119	ets variant gene 5		E	1	Substitution - coding silent(1)	ovary(1)	3											77	82	80					3																	185823281		2203	4300	6503	187305975	SO:0001819	synonymous_variant	2119			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.138A>T	3.37:g.185823281T>A			187305975	A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	ENST00000306376.5	37	CCDS33906.1																																																																																				0.403	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		A	185823281	T	A	185823281	2	1	463	1	0	0	0	0	0	0	0	1	5282	1393	49	5		5	ETV5	3	185823281	Silent	SNP	T	TCGA-61-2113-01A-01W-0722-08	20917564	185823281	12199149	6	25212											
BOD1L	259282	broad.mit.edu	37	4	13604894	13604894	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr4:13604894T>A	ENST00000040738.5	-	10	3765	c.3630A>T	c.(3628-3630)caA>caT	p.Q1210H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1210						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q1210H(1)									ACACAGCACTTTGTATATGCA	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											168	175	173					4																	13604894		2203	4300	6503	13213992	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3630A>T	4.37:g.13604894T>A	ENSP00000040738:p.Gln1210His		13213992	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	9.325	1.059012	0.19987	.	.	ENSG00000038219	ENST00000040738	T	0.08458	3.09	5.02	-0.201	0.13212	.	0.313134	0.23391	N	0.048681	T	0.07413	0.0187	N	0.24115	0.695	0.09310	N	1	P	0.44578	0.838	P	0.47206	0.541	T	0.23691	-1.0181	10	0.54805	T	0.06	-0.8788	8.3417	0.32247	0.0:0.3078:0.0:0.6922	.	1210	Q8NFC6	BOD1L_HUMAN	H	1210	ENSP00000040738:Q1210H	ENSP00000040738:Q1210H	Q	-	3	2	BOD1L	13213992	0.131000	0.22433	0.001000	0.08648	0.172000	0.22775	0.481000	0.22260	-0.150000	0.11195	-0.274000	0.10170	CAA		0.408	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		A	13604894	T	A	13604894	3	1	463	1	0	0	0	0	1	0	0	0	1483	1838	64	5	5593	5	BOD1L	4	13604894	Missense_Mutation	SNP	T	TCGA-61-2113-01A-01W-0722-08		13604894	177549382	7	25213											
CD38	952	broad.mit.edu	37	4	15835888	15835888	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr4:15835888A>T	ENST00000226279.3	+	4	685	c.548A>T	c.(547-549)aAc>aTc	p.N183I		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	183					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.N183I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TGCAGCAACAACCCTGTTTCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	4											95	93	94					4																	15835888		2203	4300	6503	15444986	SO:0001583	missense	952			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.548A>T	4.37:g.15835888A>T	ENSP00000226279:p.Asn183Ile		15444986	O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	CCDS3417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.01|15.01	2.707749|2.707749	0.48412|0.48412	.|.	.|.	ENSG00000004468|ENSG00000004468	ENST00000226279;ENST00000510674|ENST00000540195	T;T|.	0.18016|.	2.24;2.24|.	5.4|5.4	1.48|1.48	0.22813|0.22813	.|.	0.500775|.	0.24405|.	N|.	0.038804|.	T|T	0.56352|0.56352	0.1979|0.1979	M|M	0.84585|0.84585	2.705|2.705	0.09310|0.09310	N|N	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.49606|0.49606	-0.8922|-0.8922	10|6	0.87932|0.44086	D|T	0|0.13	-27.6845|-27.6845	5.3435|5.3435	0.15996|0.15996	0.5555:0.3538:0.0907:0.0|0.5555:0.3538:0.0907:0.0	.|.	183|.	P28907|.	CD38_HUMAN|.	I|S	183;71|138	ENSP00000226279:N183I;ENSP00000423047:N71I|.	ENSP00000226279:N183I|ENSP00000442176:T138S	N|T	+|+	2|1	0|0	CD38|CD38	15444986|15444986	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.343000|0.343000	0.19944|0.19944	0.386000|0.386000	0.24997|0.24997	0.528000|0.528000	0.53228|0.53228	AAC|ACC		0.383	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		T	15835888	A	T	15835888	3	4	463	1	0	0	0	0	1	0	0	0	3009	43	2	5	562	5	CD38	4	15835888	Missense_Mutation	SNP	A	TCGA-61-2113-01A-01W-0722-08	2230994	15835888	175318388	8	25214											
BMP3	651	broad.mit.edu	37	4	81967139	81967139	+	Silent	SNP	C	C	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr4:81967139C>T	ENST00000282701.2	+	2	884	c.564C>T	c.(562-564)gcC>gcT	p.A188A		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	188					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.A188A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGGATATGGCCAAATCTCATC	0.408																																																1	Substitution - coding silent(1)	ovary(1)	4											147	152	151					4																	81967139		2203	4300	6503	82186163	SO:0001819	synonymous_variant	651			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.564C>T	4.37:g.81967139C>T			82186163	Q4VAS5	Silent	SNP	ENST00000282701.2	37	CCDS3588.1																																																																																				0.408	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			T	81967139	C	T	81967139	2	4	463	1	0	0	0	0	0	0	0	1	1461	581	21	2		2	BMP3	4	81967139	Silent	SNP	C	TCGA-61-2113-01A-01W-0722-08	66131251	81967139	109187137	9	25215											
ANK2	287	broad.mit.edu	37	4	114161671	114161671	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr4:114161671C>T	ENST00000357077.4	+	8	777	c.724C>T	c.(724-726)Cat>Tat	p.H242Y	ANK2_ENST00000506722.1_Missense_Mutation_p.H221Y|ANK2_ENST00000394537.3_Missense_Mutation_p.H242Y|ANK2_ENST00000264366.6_Missense_Mutation_p.H242Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	242					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.H242Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATAGCTGCACATTACGGAAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	4											156	147	150					4																	114161671		2203	4300	6503	114381120	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.724C>T	4.37:g.114161671C>T	ENSP00000349588:p.His242Tyr		114381120	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082935	0.94050	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.63913	-0.07;0.11;0.11;0.11;0.11;0.11;0.11	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.52532	D	0.000065	T	0.57695	0.2071	N	0.01209	-0.955	0.80722	D	1	D;D;D;D;P	0.89917	0.999;1.0;1.0;0.999;0.956	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.974	T	0.75889	-0.3158	10	0.72032	D	0.01	.	19.3647	0.94458	0.0:1.0:0.0:0.0	.	242;242;242;221;221	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	Y	221;221;221;257;242;242;242;221	ENSP00000423799:H221Y;ENSP00000421011:H221Y;ENSP00000421067:H221Y;ENSP00000424722:H257Y;ENSP00000378044:H242Y;ENSP00000349588:H242Y;ENSP00000264366:H242Y	ENSP00000264366:H242Y	H	+	1	0	ANK2	114381120	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.776000	0.85560	2.740000	0.93945	0.650000	0.86243	CAT		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114161671	C	T	114161671	3	4	463	1	0	0	0	0	1	0	0	0	621	478	17	2	779	2	ANK2	4	114161671	Missense_Mutation	SNP	C	TCGA-61-2113-01A-01W-0722-08	32194532	114161671	76992605	10	25216											
TLL1	7092	broad.mit.edu	37	4	166924625	166924625	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr4:166924625G>T	ENST00000061240.2	+	6	1362	c.715G>T	c.(715-717)Gtt>Ttt	p.V239F	TLL1_ENST00000507499.1_Missense_Mutation_p.V239F|TLL1_ENST00000513213.1_Missense_Mutation_p.V239F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	239	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V239F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGGGATTGTTGTTCATGAATT	0.433																																																1	Substitution - Missense(1)	ovary(1)	4											176	160	165					4																	166924625		2203	4300	6503	167144075	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.715G>T	4.37:g.166924625G>T	ENSP00000061240:p.Val239Phe		167144075	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962809	0.74016	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.65916	-0.18;-0.18;-0.18	5.35	5.35	0.76521	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	U	0.000001	D	0.85894	0.5803	H	0.96996	3.92	0.80722	D	1	D;D	0.71674	0.998;0.984	D;P	0.64042	0.921;0.746	D	0.90431	0.4424	10	0.72032	D	0.01	.	19.4213	0.94723	0.0:0.0:1.0:0.0	.	239;239	E9PD25;O43897	.;TLL1_HUMAN	F	239	ENSP00000061240:V239F;ENSP00000426082:V239F;ENSP00000422937:V239F	ENSP00000061240:V239F	V	+	1	0	TLL1	167144075	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	9.813000	0.99286	2.653000	0.90120	0.557000	0.71058	GTT		0.433	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			T	166924625	G	T	166924625	3	4	463	1	0	0	0	0	1	0	0	0	15945	1377	48	3	737	3	TLL1	4	166924625	Missense_Mutation	SNP	G	TCGA-61-2113-01A-01W-0722-08	52762954	166924625	24229651	11	25217											
CATSPER3	347732	broad.mit.edu	37	5	134305677	134305677	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr5:134305677C>G	ENST00000282611.6	+	2	233	c.147C>G	c.(145-147)agC>agG	p.S49R	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	49					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.S49R(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATAATGAGCCGTTTCTTTA	0.403																																																1	Substitution - Missense(1)	ovary(1)	5											218	197	204					5																	134305677		2203	4300	6503	134333576	SO:0001583	missense	347732			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.147C>G	5.37:g.134305677C>G	ENSP00000282611:p.Ser49Arg		134333576	Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988304	0.35036	.	.	ENSG00000152705	ENST00000282611	D	0.97575	-4.44	5.42	-0.314	0.12750	.	0.092879	0.47852	D	0.000209	D	0.95357	0.8493	L	0.32530	0.975	0.09310	N	1	D	0.58268	0.982	P	0.55824	0.785	D	0.90922	0.4784	10	0.62326	D	0.03	-12.5051	9.9716	0.41757	0.0:0.5209:0.0:0.4791	.	49	Q86XQ3	CTSR3_HUMAN	R	49	ENSP00000282611:S49R	ENSP00000282611:S49R	S	+	3	2	CATSPER3	134333576	0.004000	0.15560	0.005000	0.12908	0.009000	0.06853	0.152000	0.16302	-0.186000	0.10533	-0.484000	0.04775	AGC		0.403	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		G	134305677	C	G	134305677	3	3	463	1	0	0	0	0	1	0	0	0	2689	738	26	3	153	3	CATSPER3	5	134305677	Missense_Mutation	SNP	C	TCGA-61-2113-01A-01W-0722-08		134305677	46609583	12	25218											
GABBR1	2550	broad.mit.edu	37	6	29589553	29589553	+	Silent	SNP	A	A	G			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr6:29589553A>G	ENST00000377034.4	-	10	1442	c.1107T>C	c.(1105-1107)acT>acC	p.T369T	GABBR1_ENST00000377016.4_Silent_p.T307T|GABBR1_ENST00000355973.3_Silent_p.T252T|GABBR1_ENST00000377012.4_Silent_p.T252T|GABBR1_ENST00000376977.3_Silent_p.T369T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	369					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.T369T(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCCGGGCTTCAGTCTCATAGA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	6											62	66	65					6																	29589553		2203	4300	6503	29697532	SO:0001819	synonymous_variant	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1107T>C	6.37:g.29589553A>G			29697532	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																				0.547	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			G	29589553	A	G	29589553	2	3	463	1	0	0	0	0	0	0	0	1	6155	175	7	4		4	GABBR1	6	29589553	Silent	SNP	A	TCGA-61-2113-01A-01W-0722-08		29589553	141525514	13	25219											
ROS1	6098	broad.mit.edu	37	6	117674279	117674279	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr6:117674279T>C	ENST00000368508.3	-	26	4393	c.4195A>G	c.(4195-4197)Atc>Gtc	p.I1399V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.I1393V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1399					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I1399V(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTGCTGTGATGATCCAGTAT	0.388			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	1	Substitution - Missense(1)	ovary(1)	6											183	161	169					6																	117674279		2203	4300	6503	117780972	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4195A>G	6.37:g.117674279T>C	ENSP00000357494:p.Ile1399Val		117780972	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	1.298	-0.605703	0.03717	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90900	-2.75;-2.75	5.37	-0.676	0.11361	.	0.954411	0.08713	N	0.904729	T	0.50820	0.1638	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52525	-0.8564	10	0.05436	T	0.98	.	3.4152	0.07373	0.4188:0.2347:0.0:0.3465	.	1399	P08922	ROS1_HUMAN	V	1399;1393	ENSP00000357494:I1399V;ENSP00000357493:I1393V	ENSP00000357493:I1393V	I	-	1	0	ROS1	117780972	0.000000	0.05858	0.003000	0.11579	0.768000	0.43524	-0.654000	0.05354	-0.085000	0.12573	0.455000	0.32223	ATC		0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			C	117674279	T	C	117674279	3	2	463	1	0	0	0	0	1	0	0	0	13534	1464	51	4	2920	4	ROS1	6	117674279	Missense_Mutation	SNP	T	TCGA-61-2113-01A-01W-0722-08	88084726	117674279	53440788	14	25220											
AKAP7	9465	broad.mit.edu	37	6	131490397	131490397	+	Silent	SNP	A	A	T	rs113026534		TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr6:131490397A>T	ENST00000431975.2	+	5	671	c.573A>T	c.(571-573)tcA>tcT	p.S191S	AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000368123.4_Silent_p.S169S|AKAP7_ENST00000541650.1_Silent_p.S190S	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	191						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.S169S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		ATGTAAACTCACTTTTGGAGA	0.378																																																1	Substitution - coding silent(1)	ovary(1)	6											140	142	141					6																	131490397		2203	4300	6503	131532090	SO:0001819	synonymous_variant	9465			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.573A>T	6.37:g.131490397A>T			131532090	B4DUC3|Q9HCZ8	Silent	SNP	ENST00000431975.2	37	CCDS5142.2																																																																																				0.378	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		T	131490397	A	T	131490397	2	4	463	1	0	0	0	0	0	0	0	1	456	146	6	5		5	AKAP7	6	131490397	Silent	SNP	A	TCGA-61-2113-01A-01W-0722-08	13816118	131490397	39624670	15	25221											
SP4	6671	broad.mit.edu	37	7	21521627	21521627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr7:21521627C>T	ENST00000222584.3	+	5	2211	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	665					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R665*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTCATTTACGAGCACATCT	0.398																																																2	Substitution - Nonsense(2)	ovary(1)|large_intestine(1)	7											150	145	147					7																	21521627		2203	4300	6503	21488152	SO:0001587	stop_gained	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1993C>T	7.37:g.21521627C>T	ENSP00000222584:p.Arg665*		21488152	O60402|Q32M52	Nonsense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	41	9.151051	0.99082	.	.	ENSG00000105866	ENST00000222584	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1935	0.98237	0.0:1.0:0.0:0.0	.	.	.	.	X	665	.	ENSP00000222584:R665X	R	+	1	2	SP4	21488152	0.997000	0.39634	0.994000	0.49952	0.980000	0.70556	1.498000	0.35660	2.779000	0.95612	0.591000	0.81541	CGA		0.398	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		T	21521627	C	T	21521627	4	4	463	1	0	0	0	0	0	1	0	0	14969	528	19	1	2011	1	SP4	7	21521627	Nonsense_Mutation	SNP	C	TCGA-61-2113-01A-01W-0722-08		21521627	137617036	16	25222											
HECW1	23072	broad.mit.edu	37	7	43581522	43581522	+	Silent	SNP	G	G	A	rs532223116		TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr7:43581522G>A	ENST00000395891.2	+	26	4778	c.4173G>A	c.(4171-4173)ttG>ttA	p.L1391L	HECW1_ENST00000453890.1_Silent_p.L1357L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1391	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L1370L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCAGAGTTTGCAGTGGATGA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	7											172	156	161					7																	43581522		1887	4137	6024	43548047	SO:0001819	synonymous_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4173G>A	7.37:g.43581522G>A			43548047	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	9.113	1.007096	0.19199	.	.	ENSG00000002746	ENST00000429529	.	.	.	5.95	5.06	0.68205	.	.	.	.	.	T	0.59810	0.2221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58487	-0.7628	4	.	.	.	.	8.8232	0.35039	0.2255:0.0:0.7745:0.0	.	.	.	.	Y	115	.	.	C	+	2	0	HECW1	43548047	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.765000	0.26546	1.491000	0.48482	0.563000	0.77884	TGC		0.433	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43581522	G	A	43581522	2	1	463	1	0	0	0	0	0	0	0	1	7042	1310	46	2		2	HECW1	7	43581522	Silent	SNP	G	TCGA-61-2113-01A-01W-0722-08	22059895	43581522	115557141	17	25223											
SPAM1	6677	broad.mit.edu	37	7	123594492	123594492	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr7:123594492A>G	ENST00000439500.1	+	4	1481	c.868A>G	c.(868-870)Aaa>Gaa	p.K290E	SPAM1_ENST00000402183.2_Missense_Mutation_p.K290E|SPAM1_ENST00000340011.5_Missense_Mutation_p.K290E|SPAM1_ENST00000460182.1_Missense_Mutation_p.K290E|SPAM1_ENST00000223028.7_Missense_Mutation_p.K290E	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	290					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.K290E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGAGTTTCCAAAATACCTGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											68	64	65					7																	123594492		2203	4299	6502	123381728	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.868A>G	7.37:g.123594492A>G	ENSP00000402123:p.Lys290Glu		123381728	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.116352	0.37339	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	6.17	-10.1	0.00402	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.936106	0.09242	N	0.829133	T	0.15305	0.0369	L	0.55213	1.73	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.20974	-1.0259	9	.	.	.	-2.534	3.3236	0.07059	0.2376:0.3911:0.2432:0.1281	.	290;290	Q8TC30;P38567	.;HYALP_HUMAN	E	290	ENSP00000386028:K290E;ENSP00000417934:K290E;ENSP00000345849:K290E;ENSP00000402123:K290E;ENSP00000223028:K290E	.	K	+	1	0	SPAM1	123381728	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.458000	0.06737	-1.413000	0.02027	-0.313000	0.08912	AAA		0.413	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			G	123594492	A	G	123594492	3	3	463	1	0	0	0	0	1	0	0	0	14989	131	5	4	870	4	SPAM1	7	123594492	Missense_Mutation	SNP	A	TCGA-61-2113-01A-01W-0722-08	80012970	123594492	35544171	18	25224											
TG	7038	broad.mit.edu	37	8	133935586	133935586	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr8:133935586T>C	ENST00000220616.4	+	22	4572	c.4532T>C	c.(4531-4533)gTc>gCc	p.V1511A	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1511	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.V1511A(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTCTAGGTGTCACTGACTGT	0.542																																																1	Substitution - Missense(1)	ovary(1)	8											78	73	75					8																	133935586		2203	4300	6503	134004768	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4532T>C	8.37:g.133935586T>C	ENSP00000220616:p.Val1511Ala		134004768	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464755	0.63513	.	.	ENSG00000042832	ENST00000543313;ENST00000220616	T	0.65178	-0.14	4.63	3.46	0.39613	Thyroglobulin type-1 (2);	0.683649	0.13302	N	0.398151	T	0.68705	0.3030	M	0.74881	2.28	0.80722	D	1	D	0.60575	0.988	P	0.52343	0.696	T	0.67225	-0.5724	10	0.87932	D	0	.	6.8684	0.24106	0.0:0.1087:0.0:0.8913	.	1511	P01266	THYG_HUMAN	A	317;1511	ENSP00000220616:V1511A	ENSP00000220616:V1511A	V	+	2	0	TG	134004768	1.000000	0.71417	0.991000	0.47740	0.838000	0.47535	3.010000	0.49559	0.636000	0.30508	0.454000	0.30748	GTC		0.542	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		C	133935586	T	C	133935586	3	2	463	1	0	0	0	0	1	0	0	0	15813	1667	58	4	4618	4	TG	8	133935586	Missense_Mutation	SNP	T	TCGA-61-2113-01A-01W-0722-08		133935586	12428436	19	25225											
PTAR1	375743	broad.mit.edu	37	9	72333391	72333391	+	Missense_Mutation	SNP	G	G	C	rs376519073		TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr9:72333391G>C	ENST00000340434.4	-	8	1079	c.1076C>G	c.(1075-1077)aCg>aGg	p.T359R	PTAR1_ENST00000377200.5_Missense_Mutation_p.T307R	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	359					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)	p.T359R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						TGGAACTGGCGTCCGCTTCAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	9											115	115	115					9																	72333391		1948	4153	6101	71523211	SO:0001583	missense	375743			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"Prenyltransferase alpha subunit repeat containing"	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.1076C>G	9.37:g.72333391G>C	ENSP00000344299:p.Thr359Arg		71523211	Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	CCDS47978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.42|18.42	3.621133|3.621133	0.66787|0.66787	.|.	.|.	ENSG00000188647|ENSG00000188647	ENST00000415701|ENST00000377200;ENST00000340434	.|T;T	.|0.41065	.|1.01;1.01	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.240692	.|0.44285	.|D	.|0.000463	T|T	0.39009|0.39009	0.1062|0.1062	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D	.|0.56746	.|0.977	.|P	.|0.46585	.|0.521	T|T	0.03728|0.03728	-1.1009|-1.1009	5|10	.|0.20046	.|T	.|0.44	.|.	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|359	.|Q7Z6K3	.|PTAR1_HUMAN	E|R	124|307;359	.|ENSP00000366405:T307R;ENSP00000344299:T359R	.|ENSP00000344299:T359R	D|T	-|-	3|2	2|0	PTAR1|PTAR1	71523211|71523211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	5.504000|5.504000	0.66968|0.66968	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAC|ACG		0.527	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		C	72333391	G	C	72333391	3	2	463	1	0	0	0	0	1	0	0	0	12727	1145	40	3	136	3	PTAR1	9	72333391	Missense_Mutation	SNP	G	TCGA-61-2113-01A-01W-0722-08		72333391	68880040	20	25226											
OR13F1	138805	broad.mit.edu	37	9	107267333	107267333	+	Missense_Mutation	SNP	G	G	A	rs372415307		TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr9:107267333G>A	ENST00000334726.2	+	1	879	c.790G>A	c.(790-792)Gct>Act	p.A264T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A264T(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAAGCCCTCCGCTGTAGATTC	0.473																																																1	Substitution - Missense(1)	ovary(1)	9						A	THR/ALA	1,4405	826.1+/-416.6	0,1,2202	94	91	92		790	-1.6	0	9		92	0,8600		0,0,4300	no	missense	OR13F1	NM_001004485.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	264/320	107267333	1,13005	2203	4300	6503	106307154	SO:0001583	missense	138805				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.790G>A	9.37:g.107267333G>A	ENSP00000334452:p.Ala264Thr		106307154	Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	A	5.435	0.265378	0.10294	2.27E-4	0.0	ENSG00000186881	ENST00000334726	T	0.00099	8.73	4.29	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	0.584933	0.15308	N	0.269257	T	0.00073	0.0002	N	0.20685	0.6	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.28650	-1.0037	10	0.66056	D	0.02	.	5.0094	0.14304	0.1827:0.0:0.3754:0.4418	.	264	Q8NGS4	O13F1_HUMAN	T	264	ENSP00000334452:A264T	ENSP00000334452:A264T	A	+	1	0	OR13F1	106307154	0.000000	0.05858	0.010000	0.14722	0.048000	0.14542	-0.342000	0.07801	-0.573000	0.05998	-1.632000	0.00781	GCT		0.473	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			A	107267333	G	A	107267333	3	1	463	1	0	0	0	0	1	0	0	0	10941	1087	38	1	792	1	OR13F1	9	107267333	Missense_Mutation	SNP	G	TCGA-61-2113-01A-01W-0722-08	34933942	107267333	33946098	21	25227											
COL27A1	85301	broad.mit.edu	37	9	116973264	116973264	+	Silent	SNP	C	C	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr9:116973264C>T	ENST00000356083.3	+	12	2716	c.2325C>T	c.(2323-2325)ggC>ggT	p.G775G	MIR455_ENST00000384993.1_RNA	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	775	Collagen-like 3.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G775G(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCCTGCAGGGCCTGCCTGGCG	0.632																																																1	Substitution - coding silent(1)	ovary(1)	9											96	84	88					9																	116973264		2203	4300	6503	116013085	SO:0001819	synonymous_variant	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2325C>T	9.37:g.116973264C>T			116013085	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																				0.632	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	116973264	C	T	116973264	2	4	463	1	0	0	0	0	0	0	0	1	3685	726	26	2		2	COL27A1	9	116973264	Silent	SNP	C	TCGA-61-2113-01A-01W-0722-08	9705931	116973264	24240167	22	25228											
DEC1	50514	broad.mit.edu	37	9	118163578	118163578	+	Missense_Mutation	SNP	C	C	A	rs369269380		TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr9:118163578C>A	ENST00000374016.1	+	7	713	c.194C>A	c.(193-195)gCa>gAa	p.A65E		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	65					negative regulation of cell proliferation (GO:0008285)			p.A65E(1)		kidney(1)|large_intestine(1)|ovary(1)	3						CCCAAGGCTGCAGAGGGAATT	0.423																																																1	Substitution - Missense(1)	ovary(1)	9						C	GLU/ALA	0,4406		0,0,2203	114	111	112		194	-1	0	9		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	DEC1	NM_017418.2	107	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	65/71	118163578	1,13005	2203	4300	6503	117203399	SO:0001583	missense	50514			AB022761	CCDS6812.1	9q32	2008-02-05			ENSG00000173077	ENSG00000173077			23658	protein-coding gene	gene with protein product		604767				8603412, 10612805	Standard	NM_017418		Approved	CTS9	uc004bjk.1	Q9P2X7	OTTHUMG00000020549	ENST00000374016.1:c.194C>A	9.37:g.118163578C>A	ENSP00000363128:p.Ala65Glu		117203399		Missense_Mutation	SNP	ENST00000374016.1	37	CCDS6812.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473439	0.26423	0.0	1.16E-4	ENSG00000173077	ENST00000374016	T	0.57752	0.38	3.97	-0.984	0.10259	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.09310	N	1	B	0.28713	0.22	B	0.31686	0.134	T	0.38735	-0.9647	8	0.87932	D	0	.	4.5237	0.11971	0.5808:0.2752:0.0:0.144	.	65	Q9P2X7	DEC1_HUMAN	E	65	ENSP00000363128:A65E	ENSP00000363128:A65E	A	+	2	0	DEC1	117203399	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.410000	0.07151	-0.177000	0.10690	0.655000	0.94253	GCA		0.423	DEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053791.1	NM_017418		A	118163578	C	A	118163578	3	1	463	1	0	0	0	0	1	0	0	0	4381	710	25	3	204	3	DEC1	9	118163578	Missense_Mutation	SNP	C	TCGA-61-2113-01A-01W-0722-08	1190314	118163578	23049853	23	25229											
OR1L8	138881	broad.mit.edu	37	9	125330329	125330329	+	Missense_Mutation	SNP	A	A	G	rs562905023		TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr9:125330329A>G	ENST00000304865.2	-	1	509	c.428T>C	c.(427-429)gTc>gCc	p.V143A		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V143A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACCAGCAGGACACAGTGGTG	0.542													A|||	1	0.000199681	0	0.0014	5008	,	,		21750	0		0	False		,,,				2504	0															1	Substitution - Missense(1)	ovary(1)	9											117	86	97					9																	125330329		2203	4300	6503	124370150	SO:0001583	missense	138881				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.428T>C	9.37:g.125330329A>G	ENSP00000306607:p.Val143Ala		124370150	A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	A	4.293	0.053631	0.08291	.	.	ENSG00000171496	ENST00000304865	T	0.02067	4.47	4.49	0.461	0.16689	GPCR, rhodopsin-like superfamily (1);	0.599763	0.13503	N	0.383083	T	0.01661	0.0053	L	0.27053	0.805	0.09310	N	1	B	0.13145	0.007	B	0.21151	0.033	T	0.49041	-0.8980	10	0.07482	T	0.82	-14.1981	8.1852	0.31335	0.7267:0.0:0.2733:0.0	.	143	Q8NGR8	OR1L8_HUMAN	A	143	ENSP00000306607:V143A	ENSP00000306607:V143A	V	-	2	0	OR1L8	124370150	0.000000	0.05858	0.005000	0.12908	0.594000	0.36715	-0.528000	0.06193	0.004000	0.14682	0.369000	0.22263	GTC		0.542	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			G	125330329	A	G	125330329	3	3	463	1	0	0	0	0	1	0	0	0	10967	275	10	4	505	4	OR1L8	9	125330329	Missense_Mutation	SNP	A	TCGA-61-2113-01A-01W-0722-08	7166751	125330329	15883102	24	25230											
LGI1	9211	broad.mit.edu	37	10	95552607	95552607	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr10:95552607C>G	ENST00000371418.4	+	6	871	c.611C>G	c.(610-612)cCa>cGa	p.P204R	LGI1_ENST00000542308.1_Missense_Mutation_p.P156R|LGI1_ENST00000371413.3_Missense_Mutation_p.P204R	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	204	LRRCT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.P204R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GAAGGCCCCCCAGAATACAAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	10	GRCh37	CD020573	LGI1	D							130	133	132					10																	95552607		2203	4300	6503	95542597	SO:0001583	missense	9211			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.611C>G	10.37:g.95552607C>G	ENSP00000360472:p.Pro204Arg		95542597	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880439	0.72294	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	D;D;D	0.90133	-2.62;-2.62;-2.62	5.19	4.28	0.50868	Cysteine-rich flanking region, C-terminal (1);	0.162750	0.56097	D	0.000033	D	0.89339	0.6687	L	0.49126	1.545	0.51233	D	0.999918	D;P;B	0.55172	0.97;0.567;0.225	P;B;B	0.49708	0.62;0.43;0.052	D	0.86586	0.1857	10	0.10636	T	0.68	-3.8792	15.3326	0.74226	0.1405:0.8595:0.0:0.0	.	156;204;204	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	R	156;204;204	ENSP00000440763:P156R;ENSP00000360472:P204R;ENSP00000360467:P204R	ENSP00000360467:P204R	P	+	2	0	LGI1	95542597	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	5.818000	0.69236	1.398000	0.46701	0.650000	0.86243	CCA		0.403	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		G	95552607	C	G	95552607	3	3	463	1	0	0	0	0	1	0	0	0	8751	594	21	3	633	3	LGI1	10	95552607	Missense_Mutation	SNP	C	TCGA-61-2113-01A-01W-0722-08		95552607	39982140	25	25231											
SBF2	81846	broad.mit.edu	37	11	9878254	9878254	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr11:9878254T>A	ENST00000256190.8	-	19	2251	c.2114A>T	c.(2113-2115)gAt>gTt	p.D705V	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	705					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D705V(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATAATGGTCATCAGGAAGCTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	11											196	195	195					11																	9878254		2201	4294	6495	9834830	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2114A>T	11.37:g.9878254T>A	ENSP00000256190:p.Asp705Val		9834830	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	t	6.067	0.380760	0.11466	.	.	ENSG00000133812	ENST00000256190	T	0.41758	0.99	5.59	4.39	0.52855	.	0.963293	0.08685	N	0.908873	T	0.19886	0.0478	N	0.02539	-0.55	0.43054	D	0.994667	B	0.02656	0.0	B	0.10450	0.005	T	0.12993	-1.0526	10	0.27785	T	0.31	.	8.4938	0.33117	0.1276:0.0:0.1323:0.7401	.	705	Q86WG5	MTMRD_HUMAN	V	705	ENSP00000256190:D705V	ENSP00000256190:D705V	D	-	2	0	SBF2	9834830	0.833000	0.29383	0.986000	0.45419	0.191000	0.23601	3.167000	0.50793	2.251000	0.74343	0.456000	0.33151	GAT		0.393	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		A	9878254	T	A	9878254	3	1	463	1	0	0	0	0	1	0	0	0	13862	1435	50	5	3523	5	SBF2	11	9878254	Missense_Mutation	SNP	T	TCGA-61-2113-01A-01W-0722-08		9878254	125128262	26	25232											
NT5DC3	51559	broad.mit.edu	37	12	104171699	104171699	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr12:104171699G>C	ENST00000392876.3	-	14	1595	c.1555C>G	c.(1555-1557)Cgg>Ggg	p.R519G		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	519						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R444G(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGAGTCCTCCGGGGGTAGAAA	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											64	67	66					12																	104171699		2203	4300	6503	102695829	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1555C>G	12.37:g.104171699G>C	ENSP00000376615:p.Arg519Gly		102695829	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466714	0.84425	.	.	ENSG00000111696	ENST00000392876	T	0.22743	1.94	5.8	-2.53	0.06326	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.86573	2.825	0.49582	D	0.999806	D	0.59357	0.985	P	0.62184	0.899	T	0.61456	-0.7059	10	0.72032	D	0.01	-24.1928	18.7136	0.91667	0.0:0.0:0.3514:0.6486	.	519	Q86UY8	NT5D3_HUMAN	G	519	ENSP00000376615:R519G	ENSP00000376615:R519G	R	-	1	2	NT5DC3	102695829	1.000000	0.71417	0.884000	0.34674	0.998000	0.95712	1.174000	0.31932	-0.719000	0.04942	0.655000	0.94253	CGG		0.622	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		C	104171699	G	C	104171699	3	2	463	1	0	0	0	0	1	0	0	0	10692	1115	39	3	95	3	NT5DC3	12	104171699	Missense_Mutation	SNP	G	TCGA-61-2113-01A-01W-0722-08		104171699	29680196	27	25233											
RCBTB2	1102	broad.mit.edu	37	13	49077028	49077028	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr13:49077028G>A	ENST00000344532.3	-	11	1372	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	RCBTB2_ENST00000544904.1_Missense_Mutation_p.S245L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.H322Y|RCBTB2_ENST00000544492.1_Missense_Mutation_p.H43Y	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	317					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.H317Y(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TGTGTGGAGTGACAGGCTGCA	0.572																																																1	Substitution - Missense(1)	ovary(1)	13											112	78	90					13																	49077028		2203	4300	6503	47975029	SO:0001583	missense	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.949C>T	13.37:g.49077028G>A	ENSP00000345144:p.His317Tyr		47975029	B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	CCDS9411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.054358|5.054358	0.93793|0.93793	.|.	.|.	ENSG00000136161|ENSG00000136161	ENST00000344532;ENST00000452987;ENST00000430805;ENST00000544492|ENST00000544904	D;D;T|T	0.84730|0.50548	-1.89;-1.89;-1.33|0.74	5.73|5.73	5.73|5.73	0.89815|0.89815	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56601|0.56601	0.1996|0.1996	M|M	0.79475|0.79475	2.455|2.455	0.40685|0.40685	D|D	0.982349|0.982349	D;D;D|B	0.89917|0.24963	1.0;0.977;0.967|0.115	D;P;P|B	0.91635|0.28139	0.999;0.893;0.838|0.086	T|T	0.58572|0.58572	-0.7613|-0.7613	10|9	0.62326|0.87932	D|D	0.03|0	.|.	20.2786|20.2786	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	43;322;317|245	B4E372;B4DWG0;O95199|B4DPP7	.;.;RCBT2_HUMAN|.	Y|L	317;322;322;43|245	ENSP00000345144:H317Y;ENSP00000389910:H322Y;ENSP00000443862:H43Y|ENSP00000443904:S245L	ENSP00000345144:H317Y|ENSP00000443904:S245L	H|S	-|-	1|2	0|0	RCBTB2|RCBTB2	47975029|47975029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	9.420000|9.420000	0.97426|0.97426	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	CAC|TCA		0.572	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		A	49077028	G	A	49077028	3	1	463	1	0	0	0	0	1	0	0	0	13175	1290	45	2	726	2	RCBTB2	13	49077028	Missense_Mutation	SNP	G	TCGA-61-2113-01A-01W-0722-08		49077028	66092850	28	25234											
RCOR1	23186	broad.mit.edu	37	14	103167617	103167617	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr14:103167617G>C	ENST00000570597.1	+	4	439	c.439G>C	c.(439-441)Gat>Cat	p.D147H	RCOR1_ENST00000262241.6_Missense_Mutation_p.D150H			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	147	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)	p.D147H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TTTTTCAGTGGATGAATACAT	0.368																																																1	Substitution - Missense(1)	ovary(1)	14											153	142	145					14																	103167617		2203	4300	6503	102237370	SO:0001583	missense	23186			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.439G>C	14.37:g.103167617G>C	ENSP00000459789:p.Asp147His		102237370	Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37		.	.	.	.	.	.	.	.	.	.	G	27.3	4.816638	0.90790	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.39	5.39	0.77823	ELM2 domain (2);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86783	0.1980	9	0.87932	D	0	-27.2662	19.1463	0.93471	0.0:0.0:1.0:0.0	.	147	Q9UKL0	RCOR1_HUMAN	H	147	.	ENSP00000262241:D147H	D	+	1	0	RCOR1	102237370	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.835000	0.99442	2.527000	0.85204	0.655000	0.94253	GAT		0.368	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		C	103167617	G	C	103167617	3	2	463	1	0	0	0	0	1	0	0	0	13185	1174	41	3	453	3	RCOR1	14	103167617	Missense_Mutation	SNP	G	TCGA-61-2113-01A-01W-0722-08		103167617	4181923	29	25235											
ANKS4B	257629	broad.mit.edu	37	16	21261783	21261783	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr16:21261783C>G	ENST00000311620.5	+	2	969	c.896C>G	c.(895-897)cCc>cGc	p.P299R		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	299					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.P299R(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TTTAAACTGCCCAGTGAATTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	16											99	104	103					16																	21261783		2001	4186	6187	21169284	SO:0001583	missense	257629			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.896C>G	16.37:g.21261783C>G	ENSP00000308772:p.Pro299Arg		21169284		Missense_Mutation	SNP	ENST00000311620.5	37	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	1.618	-0.522336	0.04141	.	.	ENSG00000175311	ENST00000311620	T	0.39592	1.07	5.98	2.55	0.30701	.	0.987982	0.08288	N	0.968878	T	0.28433	0.0703	L	0.31065	0.9	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.25984	-1.0116	10	0.11485	T	0.65	-0.0416	8.1867	0.31343	0.1208:0.6898:0.1174:0.0721	.	299	Q8N8V4	ANS4B_HUMAN	R	299	ENSP00000308772:P299R	ENSP00000308772:P299R	P	+	2	0	ANKS4B	21169284	0.008000	0.16893	0.789000	0.31954	0.501000	0.33797	1.987000	0.40687	0.865000	0.35603	0.585000	0.79938	CCC		0.463	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		G	21261783	C	G	21261783	3	3	463	1	0	0	0	0	1	0	0	0	691	623	22	3	902	3	ANKS4B	16	21261783	Missense_Mutation	SNP	C	TCGA-61-2113-01A-01W-0722-08		21261783	69092970	30	25236											
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	rs193920774		TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		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"	121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	17											50	44	46					17																	7577141		2203	4300	6503	7517866	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.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val		7517866	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577141	C	A	7577141	3	1	463	1	0	0	0	0	1	0	0	0	16381	855	30	3	489	3	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-61-2113-01A-01W-0722-08		7577141	73618069	31	25237											
VTN	7448	broad.mit.edu	37	17	26695999	26695999	+	Silent	SNP	G	G	C			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr17:26695999G>C	ENST00000226218.4	-	5	1338	c.720C>G	c.(718-720)ccC>ccG	p.P240P	VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000438614.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000457710.3_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	240					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P240P(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	AGATATTTCGGGGGTAATCAG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	17											96	98	98					17																	26695999		2203	4300	6503	23720126	SO:0001819	synonymous_variant	7448			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.720C>G	17.37:g.26695999G>C			23720126	B2R7G0|P01141|Q9BSH7	Silent	SNP	ENST00000226218.4	37	CCDS11229.1																																																																																				0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		C	26695999	G	C	26695999	2	2	463	1	0	0	0	0	0	0	0	1	17237	1219	43	3		3	VTN	17	26695999	Silent	SNP	G	TCGA-61-2113-01A-01W-0722-08	19118858	26695999	54499211	32	25238											
SERPINB3	6317	broad.mit.edu	37	18	61326648	61326648	+	Silent	SNP	C	C	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr18:61326648C>T	ENST00000283752.5	-	4	479	c.336G>A	c.(334-336)acG>acA	p.T112T	SERPINB3_ENST00000332821.8_Silent_p.T112T|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	112					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.T112T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAAATAGATACGTTTTTTCTC	0.413																																																2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	18											167	157	160					18																	61326648		2203	4300	6503	59477628	SO:0001819	synonymous_variant	6317			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.336G>A	18.37:g.61326648C>T			59477628	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	ENST00000283752.5	37	CCDS11987.1																																																																																				0.413	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		T	61326648	C	T	61326648	2	4	463	1	0	0	0	0	0	0	0	1	14105	523	19	1		1	SERPINB3	18	61326648	Silent	SNP	C	TCGA-61-2113-01A-01W-0722-08		61326648	16750600	33	25239											
KCNN1	3780	broad.mit.edu	37	19	18092529	18092529	+	Silent	SNP	G	G	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr19:18092529G>T	ENST00000222249.9	+	5	829	c.510G>T	c.(508-510)gtG>gtT	p.V170V		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	170					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.V187V(1)		endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	TGTTCATGGTGGACAACGGGG	0.682																																																1	Substitution - coding silent(1)	ovary(1)	19											25	25	25					19																	18092529		2130	4230	6360	17953529	SO:0001819	synonymous_variant	3780			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.510G>T	19.37:g.18092529G>T			17953529	Q5KR10|Q6DJU4	Silent	SNP	ENST00000222249.9	37																																																																																					0.682	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		T	18092529	G	T	18092529	2	4	463	1	0	0	0	0	0	0	0	1	8078	1335	47	3		3	KCNN1	19	18092529	Silent	SNP	G	TCGA-61-2113-01A-01W-0722-08		18092529	41036454	34	25240											
GSK3A	2931	broad.mit.edu	37	19	42734952	42734952	+	Silent	SNP	G	G	A	rs370274345		TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr19:42734952G>A	ENST00000222330.3	-	11	1573	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	GSK3A_ENST00000398249.4_Silent_p.S400S	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	482					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.S482S(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GCCCTCAGGAGGAGTTAGTGA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	19						G		1,4387		0,1,2193	73	59	64		1446	-3.3	1	19		64	0,8570		0,0,4285	no	coding-synonymous	GSK3A	NM_019884.2		0,1,6478	AA,AG,GG		0.0,0.0228,0.0077		482/484	42734952	1,12957	2194	4285	6479	47426792	SO:0001819	synonymous_variant	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1446C>T	19.37:g.42734952G>A			47426792	O14959	Silent	SNP	ENST00000222330.3	37	CCDS12599.1																																																																																				0.627	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			A	42734952	G	A	42734952	2	1	463	1	0	0	0	0	0	0	0	1	6823	987	35	2		2	GSK3A	19	42734952	Silent	SNP	G	TCGA-61-2113-01A-01W-0722-08	24642423	42734952	16394031	35	25241											
PSG11	5680	broad.mit.edu	37	19	43523159	43523159	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr19:43523159G>C	ENST00000401740.1	-	3	575	c.472C>G	c.(472-474)Ccc>Gcc	p.P158A	PSG11_ENST00000403486.1_Missense_Mutation_p.P36A|PSG11_ENST00000320078.7_Missense_Mutation_p.P158A|PSG11_ENST00000306322.7_Missense_Mutation_p.P36A|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	158	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P158A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GCCTCCCTGGGGTTTAAGTTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	19											190	195	193					19																	43523159		2199	4297	6496	48214999	SO:0001583	missense	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.472C>G	19.37:g.43523159G>C	ENSP00000384995:p.Pro158Ala		48214999	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439046	0.25900	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	1.13	-0.571	0.11749	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23054	0.0557	L	0.45698	1.435	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14200	-1.0481	9	0.46703	T	0.11	.	4.3746	0.11263	0.0:0.432:0.568:0.0	.	36;158	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	A	158;36;36;158	ENSP00000319140:P158A;ENSP00000385427:P36A;ENSP00000304913:P36A;ENSP00000384995:P158A	ENSP00000304913:P36A	P	-	1	0	PSG11	48214999	0.000000	0.05858	0.040000	0.18447	0.111000	0.19643	0.127000	0.15790	0.567000	0.29293	0.184000	0.17185	CCC		0.527	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		C	43523159	G	C	43523159	3	2	463	1	0	0	0	0	1	0	0	0	12657	1232	43	3	547	3	PSG11	19	43523159	Missense_Mutation	SNP	G	TCGA-61-2113-01A-01W-0722-08	788207	43523159	15605824	36	25242											
ZNF280B	140883	broad.mit.edu	37	22	22842614	22842614	+	Silent	SNP	C	C	T	rs544119930		TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chr22:22842614C>T	ENST00000406426.1	-	4	1852	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	ZNF280B_ENST00000360412.2_Silent_p.E370E			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E370E(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CAGTAGAGGGCTCCTGGGCAG	0.502													C|||	1	0.000199681	0	0	5008	,	,		16783	0		0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	22											121	113	116					22																	22842614		2203	4300	6503	21172614	SO:0001819	synonymous_variant	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1110G>A	22.37:g.22842614C>T			21172614		Silent	SNP	ENST00000406426.1	37	CCDS13799.1																																																																																				0.502	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		T	22842614	C	T	22842614	2	4	463	1	0	0	0	0	0	0	0	1	17815	796	28	2		2	ZNF280B	22	22842614	Silent	SNP	C	TCGA-61-2113-01A-01W-0722-08		22842614	28461952	37	25243											
FAM47A	158724	broad.mit.edu	37	X	34149721	34149721	+	Silent	SNP	C	C	T			TCGA-61-2113-01A-01W-0722-08	TCGA-61-2113-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	1a8f84e5-693b-4950-992d-62496d5db43b	ae3ee868-56ab-406e-8a39-abf46e66f3ec	g.chrX:34149721C>T	ENST00000346193.3	-	1	726	c.675G>A	c.(673-675)ccG>ccA	p.P225P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	225	Pro-rich.							p.P225P(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CAGGAGGCTCCGGGCGGAGAC	0.657																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	X																																								34059642	SO:0001819	synonymous_variant	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.675G>A	X.37:g.34149721C>T			34059642	A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	CCDS43926.1																																																																																				0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34149721	C	T	34149721	2	4	463	1	0	0	0	0	0	0	0	1	5569	639	23	1		1	FAM47A	23	34149721	Silent	SNP	C	TCGA-61-2113-01A-01W-0722-08		34149721	121120839	38	25244											
CCDC27	148870	genome.wustl.edu	37	1	3680021	3680021	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr1:3680021G>C	ENST00000294600.2	+	7	1388	c.1304G>C	c.(1303-1305)aGa>aCa	p.R435T		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	435										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACCAGGACCAGATACTCCCTT	0.652																																																0			1											59	65	63					1																	3680021		2203	4300	6503	3669881	SO:0001583	missense	148870				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1304G>C	1.37:g.3680021G>C	ENSP00000294600:p.Arg435Thr		3669881	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.488753	0.26686	.	.	ENSG00000162592	ENST00000294600	T	0.18960	2.18	4.34	2.4	0.29515	.	0.469539	0.20154	N	0.098082	T	0.17066	0.0410	L	0.32530	0.975	0.28535	N	0.912383	P	0.52692	0.955	P	0.46510	0.519	T	0.05037	-1.0910	10	0.46703	T	0.11	-21.5778	6.2543	0.20865	0.2282:0.0:0.7718:0.0	.	435	Q2M243	CCD27_HUMAN	T	435	ENSP00000294600:R435T	ENSP00000294600:R435T	R	+	2	0	CCDC27	3669881	0.053000	0.20554	0.917000	0.36280	0.198000	0.23893	0.217000	0.17603	1.103000	0.41568	0.462000	0.41574	AGA		0.652	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		C	3680021	G	C	3680021	3	2	464	1	0	0	0	0	1	0	0	0	2801	942	33	3	1330	3	CCDC27	1	3680021	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09		3680021	245570600	1	25245											
IL23R	149233	genome.wustl.edu	37	1	67724312	67724312	+	Missense_Mutation	SNP	C	C	T	rs138098976	byFrequency	TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr1:67724312C>T	ENST00000347310.5	+	11	1562	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	IL23R_ENST00000395227.1_Missense_Mutation_p.P209L|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	464					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGAGACTACCCGCAAAACTCG	0.413													T|||	4	0.000798722	0.0023	0.0014	5008	,	,		17957	0		0	False		,,,				2504	0															0			1											99	103	102					1																	67724312		2203	4300	6503	67496900	SO:0001583	missense	149233			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1391C>T	1.37:g.67724312C>T	ENSP00000321345:p.Pro464Leu		67496900	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	CCDS637.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	T|T	10.53|10.53	1.376447|1.376447	0.24857|0.24857	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000395227|ENST00000425614	T;T|.	0.33438|.	1.41;1.51|.	5.78|5.78	1.52|1.52	0.23074|0.23074	.|.	0.692953|.	0.13848|.	N|.	0.358537|.	T|T	0.02267|0.02267	0.0070|0.0070	N|N	0.00801|0.00801	-1.175|-1.175	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.10296|.	0.0;0.0;0.0;0.0;0.003|.	B;B;B;B;B|.	0.06405|.	0.0;0.0;0.0;0.0;0.002|.	T|T	0.47837|0.47837	-0.9086|-0.9086	10|5	0.16420|.	T|.	0.52|.	-2.7929|-2.7929	8.8386|8.8386	0.35129|0.35129	0.0:0.4172:0.0:0.5828|0.0:0.4172:0.0:0.5828	.|.	210;99;62;209;464|.	Q5VWK5-2;Q5VWK5-5;Q5VWK5-7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;IL23R_HUMAN|.	L|C	464;209|226	ENSP00000321345:P464L;ENSP00000378652:P209L|.	ENSP00000321345:P464L|.	P|R	+|+	2|1	0|0	IL23R|IL23R	67496900|67496900	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.584000|-0.584000	0.05800|0.05800	0.003000|0.003000	0.14656|0.14656	-0.269000|-0.269000	0.10298|0.10298	CCG|CGC		0.413	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		T	67724312	C	T	67724312	3	4	464	1	0	0	0	0	1	0	0	0	7676	652	23	1	1429	1	IL23R	1	67724312	Missense_Mutation	SNP	C	TCGA-61-2612-01A-01W-1092-09	64044291	67724312	181526309	2	25246											
MSH4	4438	genome.wustl.edu	37	1	76276396	76276396	+	Silent	SNP	T	T	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr1:76276396T>G	ENST00000263187.3	+	4	707	c.603T>G	c.(601-603)ctT>ctG	p.L201L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	201					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCACTAAACTTAAAATTTTAT	0.274								Mismatch excision repair (MMR)																																								0			1											54	57	56					1																	76276396		2203	4297	6500	76048984	SO:0001819	synonymous_variant	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.603T>G	1.37:g.76276396T>G			76048984	Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	CCDS670.1																																																																																				0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		G	76276396	T	G	76276396	2	3	464	1	0	0	0	0	0	0	0	1	9872	1741	61	5		5	MSH4	1	76276396	Silent	SNP	T	TCGA-61-2612-01A-01W-1092-09	8552084	76276396	172974225	3	25247											
LYPD6B	130576	genome.wustl.edu	37	2	150061920	150061920	+	Splice_Site	SNP	T	T	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr2:150061920T>G	ENST00000409029.1	+	4	359		c.e4+2		LYPD6B_ENST00000498249.1_Splice_Site|LYPD6B_ENST00000280115.7_Splice_Site|LYPD6B_ENST00000409642.3_Splice_Site|LYPD6B_ENST00000409876.1_Splice_Site			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CTCTCGACCGTAAGTAGTGGT	0.463																																																0			2											233	225	227					2																	150061920		1938	4132	6070	149770166	SO:0001630	splice_region_variant	130576				CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"cancer/testis antigen 116"					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.157+2T>G	2.37:g.150061920T>G			149770166	D3DP90|Q53TK0|Q7Z747|Q8IXK7	Splice_Site	SNP	ENST00000409029.1	37		.	.	.	.	.	.	.	.	.	.	T	19.60	3.857752	0.71834	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7711	0.63026	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LYPD6B	149770166	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.912000	0.69948	2.194000	0.70268	0.533000	0.62120	.		0.463	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964	Intron	G	150061920	T	G	150061920	5	3	464	1	0	0	0	0	0	0	1	0	9115	1652	57	5	241	5	LYPD6B	2	150061920	Splice_Site	SNP	T	TCGA-61-2612-01A-01W-1092-09		150061920	93137453	4	25248											
FAP	2191	genome.wustl.edu	37	2	163099434	163099434	+	Silent	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr2:163099434G>A	ENST00000188790.4	-	2	282	c.75C>T	c.(73-75)gtC>gtT	p.V25V	FAP_ENST00000443424.1_Silent_p.V25V|FAP_ENST00000493182.1_5'Flank	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AAGGGCGTAAGACAATGCACA	0.388																																																0			2											111	94	100					2																	163099434		2203	4300	6503	162807680	SO:0001819	synonymous_variant	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.75C>T	2.37:g.163099434G>A			162807680		Silent	SNP	ENST00000188790.4	37	CCDS33311.1																																																																																				0.388	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			A	163099434	G	A	163099434	2	1	464	1	0	0	0	0	0	0	0	1	5673	929	33	2		2	FAP	2	163099434	Silent	SNP	G	TCGA-61-2612-01A-01W-1092-09	13037514	163099434	80099939	5	25249											
NUP35	129401	genome.wustl.edu	37	2	184024217	184024217	+	Splice_Site	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr2:184024217G>A	ENST00000295119.4	+	8	843	c.740G>A	c.(739-741)aGt>aAt	p.S247N	NUP35_ENST00000409798.1_Splice_Site_p.S230N|NUP35_ENST00000541912.1_Splice_Site_p.S112N	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	247	RRM Nup35-type. {ECO:0000255|PROSITE- ProRule:PRU00804}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TTTCTCCAGAGTGTTATGGAA	0.328																																																0			2											103	99	100					2																	184024217		2203	4300	6503	183732462	SO:0001630	splice_region_variant	129401			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.739-1G>A	2.37:g.184024217G>A			183732462	B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Missense_Mutation	SNP	ENST00000295119.4	37	CCDS2290.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533470	0.45073	.	.	ENSG00000163002	ENST00000409798;ENST00000295119;ENST00000541912	.	.	.	5.44	1.45	0.22620	.	0.039336	0.85682	N	0.000000	T	0.55146	0.1902	M	0.77820	2.39	0.44771	D	0.997771	B	0.06786	0.001	B	0.13407	0.009	T	0.44159	-0.9346	9	0.18276	T	0.48	.	6.699	0.23215	0.2171:0.1337:0.6492:0.0	.	247	Q8NFH5	NUP53_HUMAN	N	230;247;112	.	ENSP00000295119:S247N	S	+	2	0	NUP35	183732462	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.197000	0.32211	0.614000	0.30107	0.585000	0.79938	AGT		0.328	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285	Missense_Mutation	A	184024217	G	A	184024217	5	1	464	1	0	0	0	0	0	0	1	0	10763	1043	36	2	770	2	NUP35	2	184024217	Splice_Site	SNP	G	TCGA-61-2612-01A-01W-1092-09	20924783	184024217	59175156	6	25250											
NMUR1	10316	genome.wustl.edu	37	2	232393125	232393125	+	Silent	SNP	G	G	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr2:232393125G>T	ENST00000305141.4	-	2	740	c.607C>A	c.(607-609)Cgg>Agg	p.R203R		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	203				R -> Q (in Ref. 3; AAH36543). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)	p.R203W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGCAGCTGCCGGATGCCGTGC	0.677																																																1	Substitution - Missense(1)	endometrium(1)	2											29	28	29					2																	232393125		2202	4299	6501	232101369	SO:0001819	synonymous_variant	10316			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.607C>A	2.37:g.232393125G>T			232101369	O43664|Q7LDP6|Q8NE20	Silent	SNP	ENST00000305141.4	37	CCDS2486.1																																																																																				0.677	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		T	232393125	G	T	232393125	2	4	464	1	0	0	0	0	0	0	0	1	10506	1115	39	3		3	NMUR1	2	232393125	Silent	SNP	G	TCGA-61-2612-01A-01W-1092-09	48368908	232393125	10806248	7	25251											
EPHA6	285220	genome.wustl.edu	37	3	96706268	96706268	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr3:96706268G>C	ENST00000389672.5	+	3	583	c.545G>C	c.(544-546)cGt>cCt	p.R182P	EPHA6_ENST00000542517.1_Missense_Mutation_p.R88P|EPHA6_ENST00000470610.2_Missense_Mutation_p.R182P	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	88	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R88H(2)|p.R88P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AACTGGCTTCGTACAAACTGG	0.433																																																4	Substitution - Missense(4)	ovary(2)|stomach(2)	3											96	95	95					3																	96706268		1880	4105	5985	98188958	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.545G>C	3.37:g.96706268G>C	ENSP00000374323:p.Arg182Pro		98188958	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963717	0.74016	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.04234	3.67;3.67;3.67	5.74	5.74	0.90152	.	0.315711	0.27836	U	0.017648	T	0.28962	0.0719	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.06391	-1.0829	10	0.87932	D	0	.	15.0648	0.71986	0.0696:0.0:0.9304:0.0	.	182;182	B3KS12;E7EU71	.;.	P	182;182;88	ENSP00000420598:R182P;ENSP00000374323:R182P;ENSP00000439758:R88P	ENSP00000374323:R182P	R	+	2	0	EPHA6	98188958	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	5.559000	0.67326	2.703000	0.92315	0.655000	0.94253	CGT		0.433	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		C	96706268	G	C	96706268	3	2	464	1	0	0	0	0	1	0	0	0	5171	1145	40	3	555	3	EPHA6	3	96706268	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09		96706268	101316162	8	25252											
BCHE	590	genome.wustl.edu	37	3	165548009	165548009	+	Silent	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr3:165548009C>A	ENST00000264381.3	-	2	979	c.813G>T	c.(811-813)acG>acT	p.T271T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	271			T -> M (in BChE deficiency; allele fluoride-1; dbSNP:rs28933389). {ECO:0000269|PubMed:11928765, ECO:0000269|PubMed:1415224}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CTAAGTTCAACGTTCTGTTCC	0.403																																																0			3											99	103	102					3																	165548009		2203	4299	6502	167030703	SO:0001819	synonymous_variant	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.813G>T	3.37:g.165548009C>A			167030703	A8K7P8	Silent	SNP	ENST00000264381.3	37	CCDS3198.1																																																																																				0.403	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			A	165548009	C	A	165548009	2	1	464	1	0	0	0	0	0	0	0	1	1358	523	19	3		3	BCHE	3	165548009	Silent	SNP	C	TCGA-61-2612-01A-01W-1092-09	68841741	165548009	32474421	9	25253											
CC2D2A	57545	genome.wustl.edu	37	4	15539586	15539586	+	Missense_Mutation	SNP	C	C	T	rs376457814		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr4:15539586C>T	ENST00000503292.1	+	17	2009	c.1829C>T	c.(1828-1830)cCg>cTg	p.P610L	CC2D2A_ENST00000389652.5_Missense_Mutation_p.P561L|CC2D2A_ENST00000413206.1_Missense_Mutation_p.P610L|CC2D2A_ENST00000424120.1_Missense_Mutation_p.P610L|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	610					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ATTGCAGAGCCGTATCCCGAG	0.542																																																0			4						C	LEU/PRO	0,4068		0,0,2034	61	70	67		1829	0.4	0	4		67	1,8403		0,1,4201	no	missense	CC2D2A	NM_001080522.2	98	0,1,6235	TT,TC,CC		0.0119,0.0,0.0080	benign	610/1621	15539586	1,12471	2034	4202	6236	15148684	SO:0001583	missense	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1829C>T	4.37:g.15539586C>T	ENSP00000421809:p.Pro610Leu		15148684	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147079	0.21288	0.0	1.19E-4	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.39	0.443	0.16587	.	1.365850	0.04461	N	0.374400	T	0.13157	0.0319	L	0.44542	1.39	0.09310	N	1	B;B	0.34349	0.005;0.45	B;B	0.27500	0.001;0.08	T	0.17018	-1.0383	10	0.11182	T	0.66	.	1.2844	0.02047	0.3633:0.3189:0.1088:0.209	.	610;561	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	L	610;610;561;561;610;561	ENSP00000403465:P610L;ENSP00000398391:P610L;ENSP00000421809:P610L;ENSP00000374303:P561L	ENSP00000374303:P561L	P	+	2	0	CC2D2A	15148684	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.242000	0.08928	-0.024000	0.13941	0.467000	0.42956	CCG		0.542	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		T	15539586	C	T	15539586	3	4	464	1	0	0	0	0	1	0	0	0	2728	652	23	1	2090	1	CC2D2A	4	15539586	Missense_Mutation	SNP	C	TCGA-61-2612-01A-01W-1092-09		15539586	175614690	10	25254											
PCDHB4	56131	genome.wustl.edu	37	5	140502691	140502691	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr5:140502691G>A	ENST00000194152.1	+	1	1111	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	371	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAATTCGAGATAGAGATTC	0.403																																																0			5											95	103	100					5																	140502691		2203	4300	6503	140482875	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1111G>A	5.37:g.140502691G>A	ENSP00000194152:p.Asp371Asn		140482875	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383313	0.82792	.	.	ENSG00000081818	ENST00000194152	T	0.61627	0.09	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88032	0.6328	H	0.99909	4.93	0.52501	D	0.999956	D	0.89917	1.0	D	0.97110	1.0	D	0.94043	0.7311	9	0.87932	D	0	.	17.5731	0.87940	0.0:0.0:1.0:0.0	.	371	Q9Y5E5	PCDB4_HUMAN	N	371	ENSP00000194152:D371N	ENSP00000194152:D371N	D	+	1	0	PCDHB4	140482875	1.000000	0.71417	0.952000	0.39060	0.846000	0.48090	9.535000	0.98064	2.454000	0.82982	0.655000	0.94253	GAT		0.403	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140502691	G	A	140502691	3	1	464	1	0	0	0	0	1	0	0	0	11544	942	33	2	1113	2	PCDHB4	5	140502691	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09		140502691	40412569	11	25255											
SLC22A3	6581	genome.wustl.edu	37	6	160829887	160829887	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr6:160829887T>C	ENST00000275300.2	+	4	943	c.791T>C	c.(790-792)aTc>aCc	p.I264T	SLC22A3_ENST00000392145.1_Missense_Mutation_p.I264T	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	264					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GCCTACTTCATCCCCAACTGG	0.408																																																0			6											140	129	133					6																	160829887		2203	4300	6503	160749877	SO:0001583	missense	6581			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.791T>C	6.37:g.160829887T>C	ENSP00000275300:p.Ile264Thr		160749877	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939406	0.52972	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.60672	0.17;0.17	5.89	4.74	0.60224	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.137429	0.47093	N	0.000246	T	0.44603	0.1301	M	0.75777	2.31	0.49582	D	0.999808	B	0.22080	0.064	B	0.29077	0.098	T	0.52147	-0.8614	10	0.66056	D	0.02	.	9.9129	0.41417	0.0:0.0774:0.0:0.9226	.	264	O75751	S22A3_HUMAN	T	264	ENSP00000275300:I264T;ENSP00000375989:I264T	ENSP00000275300:I264T	I	+	2	0	SLC22A3	160749877	0.975000	0.34042	0.963000	0.40424	0.996000	0.88848	4.613000	0.61176	1.091000	0.41335	0.529000	0.55759	ATC		0.408	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		C	160829887	T	C	160829887	3	2	464	1	0	0	0	0	1	0	0	0	14458	1435	50	4	805	4	SLC22A3	6	160829887	Missense_Mutation	SNP	T	TCGA-61-2612-01A-01W-1092-09		160829887	10285180	12	25256											
CD36	948	genome.wustl.edu	37	7	80285982	80285982	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr7:80285982A>T	ENST00000435819.1	+	7	931	c.247A>T	c.(247-249)Att>Ttt	p.I83F	CD36_ENST00000441109.2_3'UTR|CD36_ENST00000432207.1_Missense_Mutation_p.I83F|CD36_ENST00000538969.1_Missense_Mutation_p.I83F|CD36_ENST00000433696.2_Missense_Mutation_p.I83F|CD36_ENST00000394788.3_Missense_Mutation_p.I83F|CD36_ENST00000309881.7_Missense_Mutation_p.I83F|CD36_ENST00000534394.1_Missense_Mutation_p.I7F|CD36_ENST00000447544.2_Missense_Mutation_p.I83F|CD36_ENST00000544133.1_Missense_Mutation_p.I83F			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	83					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						CAGCAGCAACATTCAAGTTAA	0.393																																																0			7											100	93	95					7																	80285982		2203	4300	6503	80123918	SO:0001583	missense	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.247A>T	7.37:g.80285982A>T	ENSP00000399421:p.Ile83Phe		80123918	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378372	0.42207	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.53	2.92	0.33932	.	0.156649	0.56097	D	0.000035	T	0.71459	0.3342	M	0.75447	2.3	0.37511	D	0.917131	P	0.44690	0.841	B	0.44315	0.446	T	0.75863	-0.3167	9	.	.	.	-26.891	12.1375	0.53979	0.5691:0.4309:0.0:0.0	.	83	P16671	CD36_HUMAN	F	83;83;7;83;83;83;83;83;83;83;83;83;83;83;83	ENSP00000399421:I83F;ENSP00000308165:I83F;ENSP00000431296:I7F;ENSP00000410371:I83F;ENSP00000398760:I83F;ENSP00000409762:I83F;ENSP00000378268:I83F;ENSP00000415743:I83F;ENSP00000416388:I83F;ENSP00000411411:I83F;ENSP00000407690:I83F;ENSP00000392298:I83F;ENSP00000439543:I83F;ENSP00000441956:I83F;ENSP00000401863:I83F	.	I	+	1	0	CD36	80123918	0.984000	0.35163	0.892000	0.35008	0.531000	0.34715	2.775000	0.47702	0.978000	0.38470	0.533000	0.62120	ATT		0.393	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		T	80285982	A	T	80285982	3	4	464	1	0	0	0	0	1	0	0	0	3007	217	8	5	253	5	CD36	7	80285982	Missense_Mutation	SNP	A	TCGA-61-2612-01A-01W-1092-09		80285982	78852681	13	25257											
PXDNL	137902	genome.wustl.edu	37	8	52325741	52325741	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr8:52325741T>A	ENST00000356297.4	-	15	1973	c.1873A>T	c.(1873-1875)Att>Ttt	p.I625F	PXDNL_ENST00000543296.1_Missense_Mutation_p.I625F	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	625					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGGAGTTAATTGCACTGTCA	0.348																																																0			8											134	133	134					8																	52325741		1872	4121	5993	52488294	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1873A>T	8.37:g.52325741T>A	ENSP00000348645:p.Ile625Phe		52488294	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471811	0.63737	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68181	-0.31;-0.29	4.94	-0.432	0.12291	.	.	.	.	.	T	0.72503	0.3468	M	0.83603	2.65	0.31724	N	0.637951	D	0.61080	0.989	P	0.54856	0.762	T	0.70769	-0.4782	9	0.62326	D	0.03	.	4.1992	0.10458	0.1414:0.2504:0.0:0.6082	.	625	A1KZ92	PXDNL_HUMAN	F	625	ENSP00000348645:I625F;ENSP00000444865:I625F	ENSP00000348645:I625F	I	-	1	0	PXDNL	52488294	1.000000	0.71417	0.992000	0.48379	0.836000	0.47400	1.449000	0.35123	-0.327000	0.08551	-0.256000	0.11100	ATT		0.348	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52325741	T	A	52325741	3	1	464	1	0	0	0	0	1	0	0	0	12851	1493	52	5	2554	5	PXDNL	8	52325741	Missense_Mutation	SNP	T	TCGA-61-2612-01A-01W-1092-09		52325741	94038281	14	25258											
ZER1	10444	genome.wustl.edu	37	9	131513531	131513531	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr9:131513531T>G	ENST00000291900.2	-	7	1461	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	352					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CTGCTCTTCGTTTTTGTCACC	0.592																																																0			9											98	82	88					9																	131513531		2203	4300	6503	130553352	SO:0001583	missense	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1055A>C	9.37:g.131513531T>G	ENSP00000291900:p.Asn352Thr		130553352	O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151163	0.57151	.	.	ENSG00000160445	ENST00000291900	T	0.07216	3.21	5.24	5.24	0.73138	Armadillo-type fold (1);	0.092181	0.64402	D	0.000001	T	0.17534	0.0421	L	0.41906	1.305	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.10314	-1.0635	10	0.12766	T	0.61	-17.5206	14.3759	0.66874	0.0:0.0:0.0:1.0	.	352	Q7Z7L7	ZER1_HUMAN	T	352	ENSP00000291900:N352T	ENSP00000291900:N352T	N	-	2	0	ZER1	130553352	1.000000	0.71417	0.921000	0.36526	0.290000	0.27261	7.499000	0.81566	2.011000	0.59026	0.254000	0.18369	AAC		0.592	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		G	131513531	T	G	131513531	3	3	464	1	0	0	0	0	1	0	0	0	17625	1725	60	5	1285	5	ZER1	9	131513531	Missense_Mutation	SNP	T	TCGA-61-2612-01A-01W-1092-09		131513531	9699900	15	25259											
GRID1	2894	genome.wustl.edu	37	10	87628911	87628911	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr10:87628911A>T	ENST00000327946.7	-	6	892	c.807T>A	c.(805-807)gaT>gaA	p.D269E		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	269					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TATGGACCAGATCCAGGATCT	0.502										Multiple Myeloma(13;0.14)																																						0			10											140	125	130					10																	87628911		2203	4300	6503	87618891	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.807T>A	10.37:g.87628911A>T	ENSP00000330148:p.Asp269Glu		87618891	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	4.627	0.116607	0.08881	.	.	ENSG00000182771	ENST00000327946	D	0.81908	-1.55	5.82	0.809	0.18725	Extracellular ligand-binding receptor (1);	0.044244	0.85682	D	0.000000	T	0.39835	0.1093	N	0.00146	-1.995	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50642	-0.8804	10	0.02654	T	1	.	5.9713	0.19353	0.4274:0.2899:0.2828:0.0	.	269	Q9ULK0	GRID1_HUMAN	E	269	ENSP00000330148:D269E	ENSP00000330148:D269E	D	-	3	2	GRID1	87618891	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	1.842000	0.39250	0.115000	0.18071	-0.912000	0.02778	GAT		0.502	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		T	87628911	A	T	87628911	3	4	464	1	0	0	0	0	1	0	0	0	6771	330	12	5	2266	5	GRID1	10	87628911	Missense_Mutation	SNP	A	TCGA-61-2612-01A-01W-1092-09		87628911	47905836	16	25260											
FAM22D	728130	genome.wustl.edu	37	10	89120535	89120535	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr10:89120535C>A	ENST00000381697.2	+	2	1062	c.464C>A	c.(463-465)aCc>aAc	p.T155N	NUTM2D_ENST00000412718.1_Missense_Mutation_p.T155N|LINC00863_ENST00000439559.2_lincRNA			Q5VT03	NTM2D_HUMAN	NUT family member 2D	155																	TTAACTCAGACCCCCCTCGTC	0.652																																																0			10											26	28	28					10																	89120535		838	1573	2411	89110515	SO:0001583	missense	728130					10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"family with sequence similarity 22, member D"	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672	ENST00000381697.2:c.464C>A	10.37:g.89120535C>A	ENSP00000371116:p.Thr155Asn		89110515	A6NGV9	Missense_Mutation	SNP	ENST00000381697.2	37		.	.	.	.	.	.	.	.	.	.	c	0.827	-0.746564	0.03065	.	.	ENSG00000214562	ENST00000330762;ENST00000381697;ENST00000412718	T;T	0.25414	1.8;1.8	0.9	-0.187	0.13268	Nuclear Testis  protein, N-terminal (1);	0.883975	0.09731	N	0.763085	T	0.18087	0.0434	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.0	T	0.23226	-1.0194	9	0.59425	D	0.04	.	6.1341	0.20221	0.2914:0.7086:0.0:0.0	.	155;155	Q5VT03-2;Q5VT03	.;FA22D_HUMAN	N	226;155;155	ENSP00000371116:T155N;ENSP00000396080:T155N	ENSP00000328439:T226N	T	+	2	0	FAM22D	89110515	0.051000	0.20477	0.000000	0.03702	0.010000	0.07245	-0.145000	0.10265	-1.135000	0.02895	-1.294000	0.01345	ACC		0.652	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000470142.1	NR_075100		A	89120535	C	A	89120535	3	1	464	1	0	0	0	0	1	0	0	0	5544	507	18	3	470	3	FAM22D	10	89120535	Missense_Mutation	SNP	C	TCGA-61-2612-01A-01W-1092-09	1491624	89120535	46414212	17	25261											
PPRC1	23082	genome.wustl.edu	37	10	103906948	103906948	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr10:103906948G>A	ENST00000278070.2	+	9	4238	c.4199G>A	c.(4198-4200)cGg>cAg	p.R1400Q	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R367Q|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1400	Arg-rich.|Necessary for interaction with CREB1 and NRF1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCAAGCAGCGGTCAATGCGC	0.647																																																0			10											64	61	62					10																	103906948		2203	4300	6503	103896938	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4199G>A	10.37:g.103906948G>A	ENSP00000278070:p.Arg1400Gln		103896938	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224302	0.39300	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.32272	1.86;1.46	5.04	0.759	0.18438	.	0.975986	0.08438	N	0.945801	T	0.13243	0.0321	N	0.03115	-0.41	0.80722	D	1	B;B	0.22346	0.068;0.041	B;B	0.12837	0.008;0.003	T	0.08351	-1.0726	10	0.33940	T	0.23	.	7.1879	0.25809	0.2822:0.1122:0.6056:0.0	.	1280;1400	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	Q	1400;367	ENSP00000278070:R1400Q;ENSP00000359029:R367Q	ENSP00000278070:R1400Q	R	+	2	0	PPRC1	103896938	0.164000	0.22935	0.972000	0.41901	0.995000	0.86356	0.551000	0.23361	0.034000	0.15491	0.462000	0.41574	CGG		0.647	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103906948	G	A	103906948	3	1	464	1	0	0	0	0	1	0	0	0	12413	1116	39	1	4233	1	PPRC1	10	103906948	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09	14786413	103906948	31627799	18	25262											
LPAR5	57121	genome.wustl.edu	37	12	6730187	6730187	+	Silent	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:6730187G>A	ENST00000329858.4	-	2	984	c.228C>T	c.(226-228)ccC>ccT	p.P76P	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Silent_p.P76P	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGAGACGAACGGGCAGCGAGA	0.642																																					NSCLC(74;891 2312 37538)											0			12											48	36	40					12																	6730187		2202	4300	6502	6600448	SO:0001819	synonymous_variant	57121			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.228C>T	12.37:g.6730187G>A			6600448		Silent	SNP	ENST00000329858.4	37	CCDS8553.1																																																																																				0.642	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		A	6730187	G	A	6730187	2	1	464	1	0	0	0	0	0	0	0	1	8908	1103	39	1		1	LPAR5	12	6730187	Silent	SNP	G	TCGA-61-2612-01A-01W-1092-09		6730187	127121708	19	25263											
PTPRO	5800	genome.wustl.edu	37	12	15654948	15654948	+	Silent	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:15654948C>A	ENST00000281171.4	+	5	1386	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	PTPRO_ENST00000543886.1_Silent_p.P352P|PTPRO_ENST00000348962.2_Silent_p.P352P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	352	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTACCACCCAAACCACCCA	0.418																																																0			12											89	83	85					12																	15654948		2203	4300	6503	15546215	SO:0001819	synonymous_variant	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1056C>A	12.37:g.15654948C>A			15546215	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	CCDS8675.1																																																																																				0.418	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			A	15654948	C	A	15654948	2	1	464	1	0	0	0	0	0	0	0	1	12812	581	21	3		3	PTPRO	12	15654948	Silent	SNP	C	TCGA-61-2612-01A-01W-1092-09	8924761	15654948	118196947	20	25264											
ESPL1	9700	genome.wustl.edu	37	12	53687185	53687185	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:53687185G>A	ENST00000257934.4	+	31	6381	c.6290G>A	c.(6289-6291)cGc>cAc	p.R2097H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R2097H|PFDN5_ENST00000551018.1_5'Flank|PFDN5_ENST00000550846.1_5'Flank|PFDN5_ENST00000334478.4_5'Flank|PFDN5_ENST00000351500.3_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2097					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AACCAGGCCCGCCAAGCTCCC	0.572																																					Colon(53;1069 1201 2587 5382)											0			12											60	62	61					12																	53687185		2203	4300	6503	51973452	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.6290G>A	12.37:g.53687185G>A	ENSP00000257934:p.Arg2097His		51973452		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759437	0.89932	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.32988	1.43;1.43	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.90082	3.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.72398	-0.4306	10	0.87932	D	0	.	16.9883	0.86346	0.0:0.0:1.0:0.0	.	2097	Q14674	ESPL1_HUMAN	H	2097;1772;2097	ENSP00000257934:R2097H;ENSP00000449831:R2097H	ENSP00000257934:R2097H	R	+	2	0	ESPL1	51973452	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.296000	0.96104	2.621000	0.88768	0.563000	0.77884	CGC		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53687185	G	A	53687185	3	1	464	1	0	0	0	0	1	0	0	0	5253	1087	38	1	6408	1	ESPL1	12	53687185	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09	38032237	53687185	80164710	21	25265											
MYO1A	4640	genome.wustl.edu	37	12	57432326	57432326	+	Missense_Mutation	SNP	G	G	A	rs202137133		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:57432326G>A	ENST00000442789.2	-	18	1917	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYO1A_ENST00000300119.3_Missense_Mutation_p.R544W|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.R382W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	544	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AACAAGGACCGAAGGAGGGGG	0.537																																																0			12											75	74	74					12																	57432326		2203	4300	6503	55718593	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1630C>T	12.37:g.57432326G>A	ENSP00000393392:p.Arg544Trp		55718593	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721697	0.68959	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.72725	-0.68;-0.68;-0.68	4.94	4.04	0.47022	Myosin head, motor domain (2);	0.715706	0.13568	N	0.378278	T	0.80116	0.4564	M	0.83312	2.635	0.09310	N	0.999998	D	0.71674	0.998	P	0.54210	0.745	T	0.71174	-0.4670	10	0.87932	D	0	.	10.9273	0.47197	0.0:0.0:0.6624:0.3376	.	544	Q9UBC5	MYO1A_HUMAN	W	544;544;382	ENSP00000300119:R544W;ENSP00000393392:R544W;ENSP00000440514:R382W	ENSP00000300119:R544W	R	-	1	2	MYO1A	55718593	0.136000	0.22515	0.909000	0.35828	0.870000	0.49936	2.287000	0.43505	1.202000	0.43218	0.561000	0.74099	CGG		0.537	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		A	57432326	G	A	57432326	3	1	464	1	0	0	0	0	1	0	0	0	10068	1057	37	1	1549	1	MYO1A	12	57432326	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09	3745141	57432326	76419569	22	25266											
GLT1D1	144423	genome.wustl.edu	37	12	129467530	129467530	+	Silent	SNP	C	C	T	rs78799732	byFrequency	TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr12:129467530C>T	ENST00000442111.2	+	12	1024	c.936C>T	c.(934-936)atC>atT	p.I312I	GLT1D1_ENST00000281703.6_Silent_p.I232I|GLT1D1_ENST00000542193.1_Silent_p.I229I|GLT1D1_ENST00000537468.1_Silent_p.I317I			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	312					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAAAGGAAATCGTAGTGAACG	0.438													T|||	35	0.00698882	0.0257	0.0014	5008	,	,		22717	0		0	False		,,,				2504	0															0			12						T		99,4307	817.0+/-416.3	1,97,2105	193	175	181		696	-4.8	0	12	dbSNP_132	181	0,8600		0,0,4300	no	coding-synonymous	GLT1D1	NM_144669.1		1,97,6405	TT,TC,CC		0.0,2.2469,0.7612		232/267	129467530	99,12907	2203	4300	6503	128033483	SO:0001819	synonymous_variant	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.936C>T	12.37:g.129467530C>T			128033483	Q86XG8	Silent	SNP	ENST00000442111.2	37																																																																																					0.438	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		T	129467530	C	T	129467530	2	4	464	1	0	0	0	0	0	0	0	1	6465	874	31	1		1	GLT1D1	12	129467530	Silent	SNP	C	TCGA-61-2612-01A-01W-1092-09	72035204	129467530	4384365	23	25267											
LRFN5	145581	genome.wustl.edu	37	14	42356272	42356272	+	Silent	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:42356272C>A	ENST00000298119.4	+	3	1633	c.444C>A	c.(442-444)gcC>gcA	p.A148A	LRFN5_ENST00000554171.1_Silent_p.A148A|LRFN5_ENST00000554120.1_Silent_p.A148A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	148						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGTCTTCGCCCTTGAGGAGC	0.393										HNSCC(30;0.082)																																						0			14											88	79	82					14																	42356272		2203	4300	6503	41426022	SO:0001819	synonymous_variant	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.444C>A	14.37:g.42356272C>A			41426022	B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	CCDS9678.1																																																																																				0.393	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		A	42356272	C	A	42356272	2	1	464	1	0	0	0	0	0	0	0	1	8941	610	22	3		3	LRFN5	14	42356272	Silent	SNP	C	TCGA-61-2612-01A-01W-1092-09		42356272	64993268	24	25268											
MDGA2	161357	genome.wustl.edu	37	14	47770670	47770670	+	Missense_Mutation	SNP	G	G	A	rs182033392		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:47770670G>A	ENST00000399232.2	-	2	521	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000472499.2_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.R122W|MDGA2_ENST00000357362.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	53	Ig-like 1.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R122W(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCCTTCCCGGATAGTGTAG	0.512													G|||	1	0.000199681	0	0	5008	,	,		17608	0.001		0	False		,,,				2504	0															1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											159	150	153					14																	47770670		692	1591	2283	46840420	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.157C>T	14.37:g.47770670G>A	ENSP00000382178:p.Arg53Trp		46840420	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.51	2.259795	0.39995	.	.	ENSG00000139915	ENST00000439988;ENST00000399232;ENST00000486952	T;T;T	0.49432	0.78;0.78;0.78	5.2	4.3	0.51218	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31404	U	0.007720	T	0.69468	0.3114	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74714	-0.3572	10	0.72032	D	0.01	.	14.202	0.65710	0.0:0.0:0.8494:0.1506	.	53	Q7Z553	MDGA2_HUMAN	W	53;122;77	ENSP00000400011:R53W;ENSP00000382178:R122W;ENSP00000452515:R77W	ENSP00000382178:R122W	R	-	1	2	MDGA2	46840420	1.000000	0.71417	0.611000	0.29010	0.011000	0.07611	2.364000	0.44187	1.313000	0.45069	0.650000	0.86243	CGG		0.512	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		A	47770670	G	A	47770670	3	1	464	1	0	0	0	0	1	0	0	0	9407	1115	39	1	2777	1	MDGA2	14	47770670	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09	5414398	47770670	59578870	25	25269											
SLC8A3	6547	genome.wustl.edu	37	14	70634088	70634088	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:70634088C>T	ENST00000381269.2	-	2	1805	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H	SLC8A3_ENST00000534137.1_Missense_Mutation_p.R351H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R351H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R351H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R351H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	351					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTAGAAGGCACGGCTCTTCTG	0.498																																																0			14											87	89	88					14																	70634088		2203	4300	6503	69703841	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1052G>A	14.37:g.70634088C>T	ENSP00000370669:p.Arg351His		69703841	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982178	0.74474	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.46063	0.95;0.88;1.02;0.95;1.02	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.994;0.994	T	0.76945	-0.2771	10	0.59425	D	0.04	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	351;351;351;351	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	H	351	ENSP00000349392:R351H;ENSP00000370669:R351H;ENSP00000350560:R351H;ENSP00000436688:R351H;ENSP00000433531:R351H	ENSP00000349392:R351H	R	-	2	0	SLC8A3	69703841	1.000000	0.71417	0.982000	0.44146	0.965000	0.64279	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	CGT		0.498	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			T	70634088	C	T	70634088	3	4	464	1	0	0	0	0	1	0	0	0	14711	536	19	1	1870	1	SLC8A3	14	70634088	Missense_Mutation	SNP	C	TCGA-61-2612-01A-01W-1092-09	22863418	70634088	36715452	26	25270											
TC2N	123036	genome.wustl.edu	37	14	92253887	92253887	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:92253887G>A	ENST00000435962.2	-	10	1455	c.1132C>T	c.(1132-1134)Ctt>Ttt	p.L378F	TC2N_ENST00000556018.1_Missense_Mutation_p.L314F|TC2N_ENST00000340892.5_Missense_Mutation_p.L378F|TC2N_ENST00000360594.5_Missense_Mutation_p.L378F	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	378	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GAGCTTGGAAGGTACCGTGCC	0.348																																																0			14											127	114	119					14																	92253887		2203	4300	6503	91323640	SO:0001583	missense	123036			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1132C>T	14.37:g.92253887G>A	ENSP00000387882:p.Leu378Phe		91323640		Missense_Mutation	SNP	ENST00000435962.2	37	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244476	0.59103	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.48	5.48	0.80851	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	L	0.29908	0.895	0.49582	D	0.9998	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	D	0.85774	0.1357	10	0.38643	T	0.18	-22.7014	19.7014	0.96054	0.0:0.0:1.0:0.0	.	314;378	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	F	378;378;378;314;130	ENSP00000387882:L378F;ENSP00000343199:L378F;ENSP00000353802:L378F;ENSP00000451317:L314F;ENSP00000450922:L130F	ENSP00000343199:L378F	L	-	1	0	TC2N	91323640	1.000000	0.71417	0.997000	0.53966	0.078000	0.17371	8.093000	0.89531	2.733000	0.93635	0.561000	0.74099	CTT		0.348	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		A	92253887	G	A	92253887	3	1	464	1	0	0	0	0	1	0	0	0	15665	1000	35	2	352	2	TC2N	14	92253887	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09	21619799	92253887	15095653	27	25271											
ATG2B	55102	genome.wustl.edu	37	14	96795893	96795893	+	Silent	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr14:96795893G>A	ENST00000359933.4	-	12	2702	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	603					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTGCCCAATGGACATATCAG	0.323																																																0			14											111	111	111					14																	96795893		1817	4078	5895	95865646	SO:0001819	synonymous_variant	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1809C>T	14.37:g.96795893G>A			95865646	Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	CCDS9944.2																																																																																				0.323	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		A	96795893	G	A	96795893	2	1	464	1	0	0	0	0	0	0	0	1	1094	1335	47	2		2	ATG2B	14	96795893	Silent	SNP	G	TCGA-61-2612-01A-01W-1092-09	4542006	96795893	10553647	28	25272											
CDAN1	146059	genome.wustl.edu	37	15	43021765	43021765	+	Splice_Site	SNP	C	C	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr15:43021765C>T	ENST00000356231.3	-	17	2431		c.e17+1			NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1						chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCGGTGCTCACCGATGTAGGG	0.607																																																0			15											64	58	60					15																	43021765		2203	4299	6502	40809057	SO:0001630	splice_region_variant	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2407+1G>A	15.37:g.43021765C>T			40809057	Q6NYD0|Q7Z7L5|Q969N3	Splice_Site	SNP	ENST00000356231.3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309698	0.60414	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDAN1	40809057	1.000000	0.71417	0.989000	0.46669	0.402000	0.30811	7.102000	0.77005	2.653000	0.90120	0.563000	0.77884	.		0.607	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300	Intron	T	43021765	C	T	43021765	5	4	464	1	0	0	0	0	0	0	1	0	3054	521	18	2	1323	2	CDAN1	15	43021765	Splice_Site	SNP	C	TCGA-61-2612-01A-01W-1092-09		43021765	59509627	29	25273											
WSCD1	23302	genome.wustl.edu	37	17	6023696	6023696	+	Silent	SNP	C	C	T	rs142363588		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:6023696C>T	ENST00000574946.1	+	9	1833	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	WSCD1_ENST00000317744.5_Silent_p.Y481Y|WSCD1_ENST00000573634.1_Silent_p.Y365Y|WSCD1_ENST00000539421.1_Silent_p.Y481Y|WSCD1_ENST00000574232.1_Silent_p.Y481Y			Q658N2	WSCD1_HUMAN	WSC domain containing 1	481						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGCTCAAGTACGGGAAGCGGC	0.627																																																0			17						C		2,4404	4.2+/-10.8	0,2,2201	126	121	123		1443	-8.5	0.7	17	dbSNP_134	123	0,8600		0,0,4300	no	coding-synonymous	WSCD1	NM_015253.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		481/576	6023696	2,13004	2203	4300	6503	5964420	SO:0001819	synonymous_variant	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1443C>T	17.37:g.6023696C>T			5964420	A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	CCDS32538.1																																																																																				0.627	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		T	6023696	C	T	6023696	2	4	464	1	0	0	0	0	0	0	0	1	17406	547	19	1		1	WSCD1	17	6023696	Silent	SNP	C	TCGA-61-2612-01A-01W-1092-09		6023696	75171514	30	25274											
TP53	7157	genome.wustl.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		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"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	17	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	7518284	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.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		7518284	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	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577559	G	A	7577559	3	1	464	1	0	0	0	0	1	0	0	0	16381	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09	1553863	7577559	73617651	31	25275											
LGALS9	3965	genome.wustl.edu	37	17	25974317	25974317	+	Silent	SNP	T	T	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:25974317T>G	ENST00000395473.2	+	10	2248	c.780T>G	c.(778-780)tcT>tcG	p.S260S	LGALS9_ENST00000310394.5_Silent_p.S216S|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000302228.5_Silent_p.S228S	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	260	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		ACCTGTGCTCTGGGAACCACA	0.562																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)											0			17											87	82	84					17																	25974317		2203	4300	6503	22998444	SO:0001819	synonymous_variant	3965			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"Lectins, galactoside-binding"	6570	protein-coding gene	gene with protein product	"galectin 9"	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.780T>G	17.37:g.25974317T>G			22998444	A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Silent	SNP	ENST00000395473.2	37	CCDS11222.1																																																																																				0.562	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		G	25974317	T	G	25974317	2	3	464	1	0	0	0	0	0	0	0	1	8748	1567	55	5		5	LGALS9	17	25974317	Silent	SNP	T	TCGA-61-2612-01A-01W-1092-09	18396758	25974317	55220893	32	25276											
BLMH	642	genome.wustl.edu	37	17	28618428	28618428	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:28618428C>A	ENST00000261714.6	-	2	286	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	BLMH_ENST00000394819.3_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	38					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	AGACAGATGTCCAGCAGGTCG	0.592																																					Pancreas(127;628 1772 12912 33293 36203)											0			17											96	94	94					17																	28618428		2203	4300	6503	25642554	SO:0001583	missense	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.112G>T	17.37:g.28618428C>A	ENSP00000261714:p.Asp38Tyr		25642554	B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269920	0.59540	.	.	ENSG00000108578	ENST00000261714	T	0.48522	0.81	5.67	4.7	0.59300	.	0.142073	0.64402	D	0.000005	T	0.66307	0.2776	M	0.71206	2.165	0.80722	D	1	D	0.61080	0.989	D	0.71414	0.973	T	0.70212	-0.4934	10	0.72032	D	0.01	-19.8142	13.6409	0.62251	0.0:0.9259:0.0:0.0741	.	38	Q13867	BLMH_HUMAN	Y	38	ENSP00000261714:D38Y	ENSP00000261714:D38Y	D	-	1	0	BLMH	25642554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.531000	0.67148	1.393000	0.46605	0.655000	0.94253	GAC		0.592	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		A	28618428	C	A	28618428	3	1	464	1	0	0	0	0	1	0	0	0	1446	855	30	3	1299	3	BLMH	17	28618428	Missense_Mutation	SNP	C	TCGA-61-2612-01A-01W-1092-09	2644111	28618428	52576782	33	25277											
TTYH2	94015	genome.wustl.edu	37	17	72233433	72233433	+	Splice_Site	SNP	G	G	A			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:72233433G>A	ENST00000269346.4	+	4	489	c.415G>A	c.(415-417)Gtt>Att	p.V139I	TTYH2_ENST00000529107.1_Splice_Site_p.V118I	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	139						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCCTCCCTAGGTTTCCGGAAC	0.592																																																0			17											80	84	82					17																	72233433		2203	4300	6503	69745028	SO:0001630	splice_region_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.415-1G>A	17.37:g.72233433G>A			69745028	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683796	0.68157	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.15834	2.39;2.39	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.87578	0.998;0.836	T	0.42766	-0.9432	9	.	.	.	-24.8347	18.8097	0.92053	0.0:0.0:1.0:0.0	.	118;139	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	I	139;118	ENSP00000269346:V139I;ENSP00000433089:V118I	.	V	+	1	0	TTYH2	69745028	1.000000	0.71417	0.988000	0.46212	0.257000	0.26127	9.150000	0.94667	2.526000	0.85167	0.655000	0.94253	GTT		0.592	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1		Missense_Mutation	A	72233433	G	A	72233433	5	1	464	1	0	0	0	0	0	0	1	0	16740	1275	44	2	429	2	TTYH2	17	72233433	Splice_Site	SNP	G	TCGA-61-2612-01A-01W-1092-09	43615005	72233433	8961777	34	25278											
C17orf28	283987	genome.wustl.edu	37	17	72950391	72950391	+	Missense_Mutation	SNP	G	G	A	rs373062583		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:72950391G>A	ENST00000425042.2	-	14	1783	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	569					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											GGGCGGGTCCGTGGGCAGGTT	0.682																																																0			17											46	37	40					17																	72950391		2198	4295	6493	70461986	SO:0001583	missense	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1706C>T	17.37:g.72950391G>A	ENSP00000413520:p.Thr569Met		70461986	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732815	0.69189	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.47	3.46	0.39613	.	0.058957	0.64402	D	0.000002	T	0.73760	0.3628	M	0.81802	2.56	0.47511	D	0.999447	D	0.56287	0.975	P	0.54401	0.751	T	0.77807	-0.2450	9	0.62326	D	0.03	-9.0771	14.0242	0.64575	0.0:0.1528:0.8472:0.0	.	569	Q8IV36	CQ028_HUMAN	M	341;569;341	.	ENSP00000317795:T341M	T	-	2	0	C17orf28	70461986	1.000000	0.71417	0.975000	0.42487	0.845000	0.48019	5.537000	0.67186	0.810000	0.34279	0.561000	0.74099	ACG		0.682	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		A	72950391	G	A	72950391	3	1	464	1	0	0	0	0	1	0	0	0	1853	1145	40	1	684	1	C17orf28	17	72950391	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09	716958	72950391	8244819	35	25279											
B3GNTL1	146712	genome.wustl.edu	37	17	80923572	80923572	+	Silent	SNP	C	C	G	rs78357976	byFrequency	TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr17:80923572C>G	ENST00000320865.3	-	7	568	c.555G>C	c.(553-555)tcG>tcC	p.S185S	B3GNTL1_ENST00000576599.1_Silent_p.S74S|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	185							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACCACGCTCGCGAGCAGAACC	0.577																																																0			17											56	50	52					17																	80923572		2203	4300	6503	78516861	SO:0001819	synonymous_variant	146712			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.555G>C	17.37:g.80923572C>G			78516861	Q6GV30|Q8WUT3	Silent	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																				0.577	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		G	80923572	C	G	80923572	2	3	464	1	0	0	0	0	0	0	0	1	1265	755	27	3		3	B3GNTL1	17	80923572	Silent	SNP	C	TCGA-61-2612-01A-01W-1092-09	7973181	80923572	271638	36	25280											
LRRC8E	80131	genome.wustl.edu	37	19	7965234	7965234	+	Silent	SNP	A	A	G			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr19:7965234A>G	ENST00000306708.6	+	3	1928	c.1827A>G	c.(1825-1827)gaA>gaG	p.E609E	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_Silent_p.S11S	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	609					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGCTGCAGGAACTTGACCTCA	0.627																																																0			19											39	39	39					19																	7965234		2203	4300	6503	7871234	SO:0001819	synonymous_variant	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1827A>G	19.37:g.7965234A>G			7871234	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																				0.627	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		G	7965234	A	G	7965234	2	3	464	1	0	0	0	0	0	0	0	1	9025	40	2	4		4	LRRC8E	19	7965234	Silent	SNP	A	TCGA-61-2612-01A-01W-1092-09		7965234	51163749	37	25281											
CIC	23152	genome.wustl.edu	37	19	42798380	42798380	+	Silent	SNP	C	C	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr19:42798380C>T	ENST00000575354.2	+	18	4291	c.4251C>T	c.(4249-4251)cgC>cgT	p.R1417R	CIC_ENST00000572681.2_Silent_p.R2323R|CIC_ENST00000160740.3_Silent_p.R1415R	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGAGAAGACGCTCCAGCTGCA	0.617			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0			19											73	75	74					19																	42798380		2203	4300	6503	47490220	SO:0001819	synonymous_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4251C>T	19.37:g.42798380C>T			47490220	Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	CCDS12601.1																																																																																				0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			T	42798380	C	T	42798380	2	4	464	1	0	0	0	0	0	0	0	1	3424	784	28	2		2	CIC	19	42798380	Silent	SNP	C	TCGA-61-2612-01A-01W-1092-09	34833146	42798380	16330603	38	25282											
PSG5	5673	genome.wustl.edu	37	19	43679476	43679476	+	Silent	SNP	C	C	T	rs200847369		TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr19:43679476C>T	ENST00000366175.3	-	4	985	c.855G>A	c.(853-855)aaG>aaA	p.K285K	PSG5_ENST00000404580.1_Silent_p.K285K|PSG5_ENST00000599812.1_Silent_p.K378K|PSG5_ENST00000407356.1_Silent_p.K285K|PSG5_ENST00000342951.6_Silent_p.K285K|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	285	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGATAGAGAGCTTTTGTCCTG	0.453																																																0			19											179	191	187					19																	43679476		2202	4295	6497	48371316	SO:0001819	synonymous_variant	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.855G>A	19.37:g.43679476C>T			48371316	Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	CCDS12617.1																																																																																				0.453	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		T	43679476	C	T	43679476	2	4	464	1	0	0	0	0	0	0	0	1	12661	796	28	2		2	PSG5	19	43679476	Silent	SNP	C	TCGA-61-2612-01A-01W-1092-09	881096	43679476	15449507	39	25283											
CHMP2A	27243	genome.wustl.edu	37	19	59063542	59063542	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr19:59063542G>T	ENST00000600118.1	-	3	784	c.359C>A	c.(358-360)cCc>cAc	p.P120H	CHMP2A_ENST00000601220.1_Missense_Mutation_p.P120H|CHMP2A_ENST00000312547.2_Missense_Mutation_p.P120H			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	120	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGGATCTGGGGCAACTTCAG	0.522																																																0			19											232	203	213					19																	59063542		2203	4300	6503	63755354	SO:0001583	missense	27243			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.359C>A	19.37:g.59063542G>T	ENSP00000469240:p.Pro120His		63755354	B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163877	0.78226	.	.	ENSG00000130724	ENST00000312547	T	0.73575	-0.76	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.89870	0.6840	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92641	0.6124	10	0.87932	D	0	.	15.1529	0.72717	0.0:0.0:1.0:0.0	.	120	O43633	CHM2A_HUMAN	H	120	ENSP00000310440:P120H	ENSP00000310440:P120H	P	-	2	0	CHMP2A	63755354	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.642000	0.67888	2.529000	0.85273	0.650000	0.86243	CCC		0.522	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		T	59063542	G	T	59063542	3	4	464	1	0	0	0	0	1	0	0	0	3354	1232	43	3	321	3	CHMP2A	19	59063542	Missense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09	15384066	59063542	65441	40	25284											
RSPH1	89765	genome.wustl.edu	37	21	43913112	43913112	+	Nonsense_Mutation	SNP	G	G	C			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chr21:43913112G>C	ENST00000291536.3	-	2	299	c.132C>G	c.(130-132)taC>taG	p.Y44*	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	44					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						AGCTCCCTTCGTAGGTGTCCC	0.498																																					Esophageal Squamous(23;63 706 6286 10288 12913)											0			21											262	232	242					21																	43913112		2203	4300	6503	42786181	SO:0001587	stop_gained	89765			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.132C>G	21.37:g.43913112G>C	ENSP00000291536:p.Tyr44*		42786181	A8MWV0|B2RBN9|Q3MJA1	Nonsense_Mutation	SNP	ENST00000291536.3	37	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293226	0.80914	.	.	ENSG00000160188	ENST00000291536	.	.	.	4.94	-9.29	0.00653	.	0.112958	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	22.4355	0.99971	0.246:0.0:0.754:0.0	.	.	.	.	X	44	.	ENSP00000291536:Y44X	Y	-	3	2	RSPH1	42786181	0.003000	0.15002	0.036000	0.18154	0.661000	0.39034	-1.263000	0.02850	-1.982000	0.00988	-1.327000	0.01280	TAC		0.498	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			C	43913112	G	C	43913112	4	2	464	1	0	0	0	0	0	1	0	0	13705	1140	40	3	829	3	RSPH1	21	43913112	Nonsense_Mutation	SNP	G	TCGA-61-2612-01A-01W-1092-09		43913112	4216783	41	25285											
GABRE	2564	genome.wustl.edu	37	X	151124290	151124290	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2612-01A-01W-1092-09	TCGA-61-2612-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	587b8017-fec1-437a-a224-b6abe77ba49e	36d4b692-eba6-448b-8e4a-bd3c117b4770	g.chrX:151124290C>T	ENST00000370328.3	-	7	880	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	GABRE_ENST00000370325.1_Missense_Mutation_p.R276Q|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	276					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATAGCCAAACCGCCTGCTCAC	0.493																																																0			X											174	135	148					X																	151124290		2203	4300	6503	150874946	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.827G>A	X.37:g.151124290C>T	ENSP00000359353:p.Arg276Gln		150874946	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477869	0.44044	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79352	-1.26;-1.26	5.8	1.34	0.21922	Neurotransmitter-gated ion-channel ligand-binding (2);	0.491787	0.16960	N	0.192533	T	0.60353	0.2262	N	0.25332	0.735	0.26439	N	0.975802	B	0.30281	0.275	B	0.21151	0.033	T	0.44298	-0.9337	10	0.37606	T	0.19	.	8.7875	0.34830	0.0:0.6:0.0:0.4	.	276	P78334	GBRE_HUMAN	Q	276	ENSP00000359353:R276Q;ENSP00000359350:R276Q	ENSP00000359350:R276Q	R	-	2	0	GABRE	150874946	0.012000	0.17670	0.000000	0.03702	0.840000	0.47671	0.868000	0.27982	-0.193000	0.10415	-0.295000	0.09555	CGG		0.493	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		T	151124290	C	T	151124290	3	4	464	1	0	0	0	0	1	0	0	0	6170	652	23	1	705	1	GABRE	23	151124290	Missense_Mutation	SNP	C	TCGA-61-2612-01A-01W-1092-09		151124290	4146270	42	25286											
MFAP2	4237	genome.wustl.edu	37	1	17303620	17303620	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:17303620G>C	ENST00000375535.3	-	3	400	c.111C>G	c.(109-111)caC>caG	p.H37Q	RP1-37C10.3_ENST00000446261.1_RNA|MFAP2_ENST00000375534.3_Missense_Mutation_p.H36Q|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.H36Q			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	37					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGTCGCTATAGTGGGTGTACT	0.637																																																0			1											48	39	42					1																	17303620		2203	4300	6503	17176207	SO:0001583	missense	4237			BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.111C>G	1.37:g.17303620G>C	ENSP00000364685:p.His37Gln		17176207	Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	CCDS174.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636896	0.29157	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.33	1.15	0.20763	.	0.242206	0.26418	N	0.024495	T	0.19127	0.0459	N	0.16478	0.41	0.30894	N	0.730052	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.08638	-1.0712	9	0.16896	T	0.51	-28.6486	3.6695	0.08269	0.233:0.2097:0.5573:0.0	.	36;37	Q5JXY0;P55001	.;MFAP2_HUMAN	Q	37;36;36	.	ENSP00000364684:H36Q	H	-	3	2	MFAP2	17176207	0.998000	0.40836	0.995000	0.50966	0.907000	0.53573	0.284000	0.18864	0.948000	0.37687	0.462000	0.41574	CAC		0.637	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	NM_002403		C	17303620	G	C	17303620	3	2	465	1	0	0	0	0	1	0	0	0	9514	1020	36	3	468	3	MFAP2	1	17303620	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09		17303620	231947001	1	25287											
ECE1	1889	genome.wustl.edu	37	1	21551823	21551823	+	Missense_Mutation	SNP	C	C	T	rs140832903	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:21551823C>T	ENST00000374893.6	-	17	2034	c.1960G>A	c.(1960-1962)Gtg>Atg	p.V654M	ECE1_ENST00000357071.4_Missense_Mutation_p.V642M|ECE1_ENST00000264205.6_Missense_Mutation_p.V651M|ECE1_ENST00000415912.2_Missense_Mutation_p.V638M|ECE1_ENST00000436918.2_Missense_Mutation_p.V654M	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	654					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCCCCGTTCACGCTGTAGTTG	0.637													C|||	3	0.000599042	8e-04	0	5008	,	,		17793	0.002		0	False		,,,				2504	0															0			1						C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	133	107	116		1924,1912,1951,1960	5.4	1	1	dbSNP_134	116	0,8600		0,0,4300	yes	missense,missense,missense,missense	ECE1	NM_001113347.1,NM_001113348.1,NM_001113349.1,NM_001397.2	21,21,21,21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	642/759,638/755,651/768,654/771	21551823	2,13004	2203	4300	6503	21424410	SO:0001583	missense	1889			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1960G>A	1.37:g.21551823C>T	ENSP00000364028:p.Val654Met		21424410	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102644	0.76983	4.54E-4	0.0	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.36	5.36	0.76844	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.062493	0.64402	D	0.000004	D	0.90414	0.6999	M	0.77616	2.38	0.43214	D	0.995087	B;D;P;D;D	0.76494	0.439;0.998;0.784;0.999;0.997	B;D;B;P;P	0.63703	0.23;0.917;0.215;0.865;0.865	D	0.90782	0.4680	10	0.52906	T	0.07	-30.178	17.6751	0.88228	0.0:1.0:0.0:0.0	.	654;638;654;642;651	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	M	638;642;654;654;651	ENSP00000405088:V638M;ENSP00000349581:V642M;ENSP00000364028:V654M;ENSP00000388439:V654M;ENSP00000264205:V651M	ENSP00000264205:V651M	V	-	1	0	ECE1	21424410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.946000	0.49050	2.500000	0.84329	0.467000	0.42956	GTG		0.637	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		T	21551823	C	T	21551823	3	4	465	1	0	0	0	0	1	0	0	0	4889	536	19	1	364	1	ECE1	1	21551823	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	4248203	21551823	227698798	2	25288											
CSMD2	114784	genome.wustl.edu	37	1	34238304	34238304	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:34238304C>A	ENST00000338325.1	-	7	948	c.536G>T	c.(535-537)cGg>cTg	p.R179L	CSMD2_ENST00000373381.4_Missense_Mutation_p.R571L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	531	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCCCTCCGGCCATATGC	0.522																																																0			1											93	91	92					1																	34238304		2203	4300	6503	34010891	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.536G>T	1.37:g.34238304C>A	ENSP00000340311:p.Arg179Leu		34010891	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37		.	.	.	.	.	.	.	.	.	.	C	9.764	1.170850	0.21621	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.64618	-0.11;-0.11	6.06	0.689	0.18033	Complement control module (2);Sushi/SCR/CCP (3);	0.190177	0.44097	D	0.000482	T	0.45597	0.1350	L	0.38175	1.15	0.80722	D	1	B;B	0.19331	0.035;0.023	B;B	0.33750	0.169;0.169	T	0.09250	-1.0683	10	0.11485	T	0.65	.	3.8697	0.09031	0.2561:0.4376:0.0:0.3063	.	531;571	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	571;179	ENSP00000362479:R571L;ENSP00000340311:R179L	ENSP00000241312:R531L	R	-	2	0	CSMD2	34010891	0.761000	0.28439	0.987000	0.45799	0.987000	0.75469	0.464000	0.21988	-0.117000	0.11872	-0.137000	0.14449	CGG		0.522	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		A	34238304	C	A	34238304	3	1	465	1	0	0	0	0	1	0	0	0	3945	652	23	3	9099	3	CSMD2	1	34238304	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	12686481	34238304	215012317	3	25289											
NASP	4678	genome.wustl.edu	37	1	46081037	46081037	+	Missense_Mutation	SNP	T	T	C	rs546656039		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:46081037T>C	ENST00000350030.3	+	11	2003	c.1916T>C	c.(1915-1917)aTt>aCt	p.I639T	NASP_ENST00000351223.3_Missense_Mutation_p.I300T|NASP_ENST00000402363.3_Missense_Mutation_p.I641T|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000372052.4_Missense_Mutation_p.I273T|NASP_ENST00000537798.1_Missense_Mutation_p.I575T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	639	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAGAAAGAAATTGAGGAACTA	0.408																																																0			1											96	95	95					1																	46081037		2203	4300	6503	45853624	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1916T>C	1.37:g.46081037T>C	ENSP00000255120:p.Ile639Thr		45853624	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483538	0.84854	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223	D;D;T;D;T;T	0.94417	-3.42;-3.42;0.68;-3.42;0.54;0.56	5.14	5.14	0.70334	.	0.174115	0.64402	D	0.000008	D	0.95850	0.8649	M	0.67397	2.05	0.48975	D	0.999731	D;P;P;D	0.62365	0.991;0.872;0.938;0.963	P;B;P;P	0.57101	0.813;0.301;0.632;0.798	D	0.96323	0.9238	10	0.87932	D	0	-9.7065	15.2619	0.73631	0.0:0.0:0.0:1.0	.	575;300;639;641	F5H3J2;Q5T626;P49321;P49321-3	.;.;NASP_HUMAN;.	T	575;641;539;236;639;273;300	ENSP00000438871:I575T;ENSP00000384529:I641T;ENSP00000432289:I236T;ENSP00000255120:I639T;ENSP00000361122:I273T;ENSP00000255121:I300T	ENSP00000345532:I539T	I	+	2	0	NASP	45853624	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.533000	0.60615	2.069000	0.61940	0.533000	0.62120	ATT		0.408	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		C	46081037	T	C	46081037	3	2	465	1	0	0	0	0	1	0	0	0	10172	1493	52	4	2035	4	NASP	1	46081037	Missense_Mutation	SNP	T	TCGA-61-2613-01A-01W-1092-09	11842733	46081037	203169584	4	25290											
ACADM	34	genome.wustl.edu	37	1	76215160	76215160	+	Silent	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:76215160G>A	ENST00000370841.4	+	9	1202	c.765G>A	c.(763-765)gtG>gtA	p.V255V	ACADM_ENST00000541113.1_Silent_p.V219V|ACADM_ENST00000370834.5_Silent_p.V288V|ACADM_ENST00000420607.2_Silent_p.V259V|ACADM_ENST00000543667.1_Silent_p.V66V	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	255					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TCGAAGATGTGAAAGTGCCTA	0.348																																																0			1											134	146	142					1																	76215160		2203	4300	6503	75987748	SO:0001819	synonymous_variant	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.765G>A	1.37:g.76215160G>A			75987748	Q5T4U4|Q9NYF1	Silent	SNP	ENST00000370841.4	37	CCDS668.1																																																																																				0.348	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			A	76215160	G	A	76215160	2	1	465	1	0	0	0	0	0	0	0	1	113	1277	45	2		2	ACADM	1	76215160	Silent	SNP	G	TCGA-61-2613-01A-01W-1092-09	30134123	76215160	173035461	5	25291											
ADAM15	8751	genome.wustl.edu	37	1	155030519	155030519	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:155030519C>T	ENST00000356955.2	+	14	1710	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S	ADAM15_ENST00000368412.3_Missense_Mutation_p.P537S|ADAM15_ENST00000355956.2_Missense_Mutation_p.P537S|ADAM15_ENST00000359280.4_Missense_Mutation_p.P537S|ADAM15_ENST00000368413.1_Missense_Mutation_p.P243S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.P547S|ADAM15_ENST00000449910.2_Missense_Mutation_p.P537S|ADAM15_ENST00000368410.2_Missense_Mutation_p.P243S|ADAM15_ENST00000271836.6_Missense_Mutation_p.P537S|ADAM15_ENST00000360674.4_Missense_Mutation_p.P537S|ADAM15_ENST00000447332.3_Missense_Mutation_p.P521S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	537	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACTTTGGGGACCTGGAGCCCA	0.627																																																0			1											62	63	62					1																	155030519		2203	4300	6503	153297143	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1609C>T	1.37:g.155030519C>T	ENSP00000349436:p.Pro537Ser		153297143	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840306	0.71488	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.4	4.47	0.54385	ADAM, cysteine-rich (2);	0.000000	0.44688	D	0.000437	T	0.24928	0.0605	L	0.50333	1.59	0.49915	D	0.999839	D;D;D;D;P;D;D;D;P;D;D	0.89917	1.0;1.0;1.0;1.0;0.938;1.0;1.0;1.0;0.569;1.0;1.0	D;D;D;D;P;D;D;D;P;D;D	0.97110	0.995;0.995;0.995;0.999;0.881;0.991;0.991;0.991;0.493;1.0;0.995	T	0.02167	-1.1202	10	0.28530	T	0.3	.	11.1452	0.48426	0.1837:0.8163:0.0:0.0	.	547;554;521;537;537;537;537;537;537;537;534	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	S	537;537;537;537;537;537;243;537;243;547	ENSP00000349436:P537S;ENSP00000403843:P537S;ENSP00000352226:P537S;ENSP00000353892:P537S;ENSP00000357397:P537S;ENSP00000348227:P537S;ENSP00000357395:P243S;ENSP00000271836:P537S;ENSP00000357398:P243S;ENSP00000432927:P547S	ENSP00000271836:P537S	P	+	1	0	ADAM15	153297143	0.076000	0.21285	0.692000	0.30179	0.878000	0.50629	0.765000	0.26546	1.473000	0.48159	0.655000	0.94253	CCT		0.627	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		T	155030519	C	T	155030519	3	4	465	1	0	0	0	0	1	0	0	0	237	507	18	2	1663	2	ADAM15	1	155030519	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	78815359	155030519	94220102	6	25292											
SLAMF7	57823	genome.wustl.edu	37	1	160718306	160718306	+	Splice_Site	SNP	T	T	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:160718306T>A	ENST00000368043.3	+	2	413		c.e2+2		SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000444090.2_Splice_Site|SLAMF7_ENST00000441662.2_Splice_Site|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000359331.4_Splice_Site	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7						cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTCTACGGTGAGCAAAATC	0.498																																																0			1											63	56	58					1																	160718306		2203	4300	6503	158984930	SO:0001630	splice_region_variant	57823			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.376+2T>A	1.37:g.160718306T>A			158984930	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Splice_Site	SNP	ENST00000368043.3	37	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.652678	0.29336	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7795	0.46369	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLAMF7	158984930	1.000000	0.71417	0.993000	0.49108	0.152000	0.21847	3.605000	0.54088	2.096000	0.63516	0.528000	0.53228	.		0.498	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181	Intron	A	160718306	T	A	160718306	5	1	465	1	0	0	0	0	0	0	1	0	14372	1710	59	5	384	5	SLAMF7	1	160718306	Splice_Site	SNP	T	TCGA-61-2613-01A-01W-1092-09	5687787	160718306	88532315	7	25293											
ZNF648	127665	genome.wustl.edu	37	1	182026962	182026962	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:182026962T>C	ENST00000339948.3	-	2	391	c.184A>G	c.(184-186)Aca>Gca	p.T62A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTTTCGTGTGTTACTGGGGAG	0.572																																					NSCLC(71;908 1374 5429 20458 35642)											0			1											83	85	85					1																	182026962		2203	4300	6503	180293585	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.184A>G	1.37:g.182026962T>C	ENSP00000344129:p.Thr62Ala		180293585	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.485709	0.26686	.	.	ENSG00000179930	ENST00000339948	T	0.08193	3.12	3.42	2.23	0.28157	.	.	.	.	.	T	0.05318	0.0141	L	0.29908	0.895	0.09310	N	1	B	0.21520	0.057	B	0.15870	0.014	T	0.44097	-0.9350	9	0.20519	T	0.43	.	3.8276	0.08861	0.0:0.1217:0.2238:0.6545	.	62	Q5T619	ZN648_HUMAN	A	62	ENSP00000344129:T62A	ENSP00000344129:T62A	T	-	1	0	ZNF648	180293585	0.004000	0.15560	0.006000	0.13384	0.019000	0.09904	0.340000	0.19892	0.449000	0.26747	0.533000	0.62120	ACA		0.572	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		C	182026962	T	C	182026962	3	2	465	1	0	0	0	0	1	0	0	0	18063	1725	60	4	1526	4	ZNF648	1	182026962	Missense_Mutation	SNP	T	TCGA-61-2613-01A-01W-1092-09	21308656	182026962	67223659	8	25294											
HMCN1	83872	genome.wustl.edu	37	1	186135338	186135338	+	Silent	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:186135338G>C	ENST00000271588.4	+	99	15571	c.15342G>C	c.(15340-15342)ggG>ggC	p.G5114G	HMCN1_ENST00000367492.2_Silent_p.G5114G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5114	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGCAGCAGGGAATCCCTGCT	0.438																																																0			1											85	73	77					1																	186135338		2203	4300	6503	184401961	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15342G>C	1.37:g.186135338G>C			184401961	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186135338	G	C	186135338	2	2	465	1	0	0	0	0	0	0	0	1	7220	1161	41	3		3	HMCN1	1	186135338	Silent	SNP	G	TCGA-61-2613-01A-01W-1092-09	4108376	186135338	63115283	9	25295											
MSH6	2956	genome.wustl.edu	37	2	48027468	48027468	+	Silent	SNP	C	C	G	rs267608065		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:48027468C>G	ENST00000234420.5	+	4	2498	c.2346C>G	c.(2344-2346)ctC>ctG	p.L782L	MSH6_ENST00000538136.1_Silent_p.L480L|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.L652L	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	782					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGCCCCACTCTGTAACCATT	0.438			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2											144	141	142					2																	48027468		2203	4300	6503	47880972	SO:0001819	synonymous_variant	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2346C>G	2.37:g.48027468C>G			47880972	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	CCDS1836.1																																																																																				0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		G	48027468	C	G	48027468	2	3	465	1	0	0	0	0	0	0	0	1	9874	900	32	3		3	MSH6	2	48027468	Silent	SNP	C	TCGA-61-2613-01A-01W-1092-09		48027468	195171905	10	25296											
ASTL	431705	genome.wustl.edu	37	2	96789973	96789973	+	Silent	SNP	C	C	T	rs183967306	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:96789973C>T	ENST00000342380.2	-	9	911	c.912G>A	c.(910-912)ccG>ccA	p.P304P		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ATAGGGAGGCCGGAGCGGGGC	0.632													C|||	12	0.00239617	0	0.0058	5008	,	,		17350	0		0.008	False		,,,				2504	0															0			2						C		3,4333		0,3,2165	11	14	13		912	-8.6	0	2		13	55,8407		0,55,4176	no	coding-synonymous	ASTL	NM_001002036.3		0,58,6341	TT,TC,CC		0.65,0.0692,0.4532		304/432	96789973	58,12740	2168	4231	6399	96153700	SO:0001819	synonymous_variant	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.912G>A	2.37:g.96789973C>T			96153700		Silent	SNP	ENST00000342380.2	37	CCDS33249.1																																																																																				0.632	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			T	96789973	C	T	96789973	2	4	465	1	0	0	0	0	0	0	0	1	1063	639	23	1		1	ASTL	2	96789973	Silent	SNP	C	TCGA-61-2613-01A-01W-1092-09	48762505	96789973	146409400	11	25297											
GTF3C3	9330	genome.wustl.edu	37	2	197636523	197636523	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:197636523C>A	ENST00000263956.3	-	15	2298	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	737					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCATTTAAGACACATAGGGCA	0.418																																																0			2											159	140	147					2																	197636523		2203	4300	6503	197344768	SO:0001583	missense	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2209G>T	2.37:g.197636523C>A	ENSP00000263956:p.Val737Phe		197344768	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391583	0.42410	.	.	ENSG00000119041	ENST00000263956	T	0.50813	0.73	5.21	5.21	0.72293	Tetratricopeptide-like helical (1);	0.124426	0.53938	D	0.000055	T	0.46367	0.1389	L	0.49126	1.545	0.80722	D	1	B	0.16166	0.016	B	0.16722	0.016	T	0.32241	-0.9914	10	0.36615	T	0.2	-7.5028	18.9503	0.92638	0.0:1.0:0.0:0.0	.	737	Q9Y5Q9	TF3C3_HUMAN	F	737	ENSP00000263956:V737F	ENSP00000263956:V737F	V	-	1	0	GTF3C3	197344768	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	2.982000	0.49337	2.699000	0.92147	0.650000	0.86243	GTC		0.418	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			A	197636523	C	A	197636523	3	1	465	1	0	0	0	0	1	0	0	0	6874	478	17	3	467	3	GTF3C3	2	197636523	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	100846550	197636523	45562850	12	25298											
ERBB4	2066	genome.wustl.edu	37	2	212578349	212578349	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:212578349G>A	ENST00000342788.4	-	8	1218	c.908C>T	c.(907-909)tCt>tTt	p.S303F	ERBB4_ENST00000436443.1_Missense_Mutation_p.S303F|ERBB4_ENST00000402597.1_Missense_Mutation_p.S303F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	303	Cys-rich.		S -> Y (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S303F(1)|p.S303Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACGCACACAAGAACTGGAATC	0.348										TSP Lung(8;0.080)																																						2	Substitution - Missense(2)	lung(1)|endometrium(1)	2											99	95	96					2																	212578349		2203	4300	6503	212286594	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.908C>T	2.37:g.212578349G>A	ENSP00000342235:p.Ser303Phe		212286594	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.680321|4.680321	0.88542|0.88542	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.31769	.|1.48;1.48;1.48	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62648|0.62648	0.2445|0.2445	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D	.|0.89917	.|1.0;0.913;0.97;1.0;1.0	.|D;P;P;D;D	.|0.91635	.|0.999;0.741;0.716;0.999;0.999	T|T	0.65191|0.65191	-0.6228|-0.6228	5|9	.|.	.|.	.|.	.|.	19.6299|19.6299	0.95698|0.95698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|303;303;162;303;303	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	F|F	303|303	.|ENSP00000342235:S303F;ENSP00000403204:S303F;ENSP00000385565:S303F	.|.	L|S	-|-	1|2	0|0	ERBB4|ERBB4	212286594|212286594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.348	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212578349	G	A	212578349	3	1	465	1	0	0	0	0	1	0	0	0	5209	942	33	2	3102	2	ERBB4	2	212578349	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09	14941826	212578349	30621024	13	25299											
EPHA3	2042	genome.wustl.edu	37	3	89390162	89390162	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr3:89390162G>C	ENST00000336596.2	+	4	1136	c.911G>C	c.(910-912)tGc>tCc	p.C304S	EPHA3_ENST00000452448.2_Missense_Mutation_p.C304S|EPHA3_ENST00000494014.1_Missense_Mutation_p.C304S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	304	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCAATGAACTGCAGGTGTGAG	0.473										TSP Lung(6;0.00050)																																						0			3											169	164	166					3																	89390162		2203	4300	6503	89472852	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.911G>C	3.37:g.89390162G>C	ENSP00000337451:p.Cys304Ser		89472852	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377471	0.82682	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.99488	-6.0;-6.0;-6.0	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.94886	3.595	0.80722	D	1	D;D	0.69078	0.987;0.997	D;D	0.83275	0.985;0.996	D	0.97862	1.0281	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	304;304	P29320;P29320-2	EPHA3_HUMAN;.	S	304	ENSP00000337451:C304S;ENSP00000399926:C304S;ENSP00000419190:C304S	.	C	+	2	0	EPHA3	89472852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGC		0.473	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		C	89390162	G	C	89390162	3	2	465	1	0	0	0	0	1	0	0	0	5168	1319	46	3	925	3	EPHA3	3	89390162	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09		89390162	108632268	14	25300											
OR5H1	26341	genome.wustl.edu	37	3	97852217	97852217	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr3:97852217T>A	ENST00000354565.2	+	1	676	c.676T>A	c.(676-678)Tta>Ata	p.L226I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTTCGCAATCTTAAAAAAGAA	0.338																																																0			3											73	81	78					3																	97852217		2202	4299	6501	99334907	SO:0001583	missense	26341			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.676T>A	3.37:g.97852217T>A	ENSP00000346575:p.Leu226Ile		99334907		Missense_Mutation	SNP	ENST00000354565.2	37	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	T	8.934	0.964116	0.18583	.	.	ENSG00000231192	ENST00000354565	T	0.00302	8.2	3.57	-0.446	0.12238	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36444	N	0.002587	T	0.00496	0.0016	M	0.78049	2.395	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46775	-0.9167	10	0.56958	D	0.05	.	6.6607	0.23012	0.0:0.5285:0.0:0.4715	.	226	A6NKK0	OR5H1_HUMAN	I	226	ENSP00000346575:L226I	ENSP00000346575:L226I	L	+	1	2	OR5H1	99334907	0.000000	0.05858	0.012000	0.15200	0.004000	0.04260	-0.792000	0.04594	0.012000	0.14892	0.164000	0.16699	TTA		0.338	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		A	97852217	T	A	97852217	3	1	465	1	0	0	0	0	1	0	0	0	11159	1606	56	5	678	5	OR5H1	3	97852217	Missense_Mutation	SNP	T	TCGA-61-2613-01A-01W-1092-09	8462055	97852217	100170213	15	25301											
ZNF80	7634	genome.wustl.edu	37	3	113955433	113955433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr3:113955433G>T	ENST00000482457.2	-	1	992	c.489C>A	c.(487-489)tgC>tgA	p.C163*	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CACATTCTTTGCACCCAAAGA	0.483																																					GBM(23;986 1114 21716)											0			3											101	105	103					3																	113955433		2203	4300	6503	115438123	SO:0001587	stop_gained	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.489C>A	3.37:g.113955433G>T	ENSP00000417192:p.Cys163*		115438123	Q6NSW4|Q6NT14	Nonsense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	37	6.207396	0.97376	.	.	ENSG00000174255	ENST00000482457	.	.	.	3.09	-1.27	0.09347	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7239	0.02918	0.2085:0.1584:0.4714:0.1616	.	.	.	.	X	163	.	ENSP00000309812:C163X	C	-	3	2	ZNF80	115438123	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-0.545000	0.06069	-0.297000	0.08934	0.561000	0.74099	TGC		0.483	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		T	113955433	G	T	113955433	4	4	465	1	0	0	0	0	0	1	0	0	18168	1311	46	3	336	3	ZNF80	3	113955433	Nonsense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09	16103216	113955433	84066997	16	25302											
LDB2	9079	genome.wustl.edu	37	4	16513654	16513654	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr4:16513654C>T	ENST00000304523.5	-	6	1012	c.689G>A	c.(688-690)tGc>tAc	p.C230Y	LDB2_ENST00000502640.1_Missense_Mutation_p.C230Y|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_Missense_Mutation_p.C230Y|LDB2_ENST00000515064.1_Missense_Mutation_p.C230Y|LDB2_ENST00000503178.2_Missense_Mutation_p.C106Y	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	230					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGTCTTCAGGCAGTCTCGGGG	0.473																																																0			4											112	102	105					4																	16513654		2203	4300	6503	16122752	SO:0001583	missense	9079			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.689G>A	4.37:g.16513654C>T	ENSP00000306772:p.Cys230Tyr		16122752	O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.123381|5.123381	0.94429|0.94429	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178	.|T;T;T;T;T	.|0.21361	.|2.01;2.01;2.01;2.01;2.01	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53514|0.53514	0.1801|0.1801	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.991;1.0;1.0;1.0;0.999;0.999	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;0.99;1.0;1.0;1.0;0.999;0.999	T|T	0.54846|0.54846	-0.8232|-0.8232	5|10	.|0.87932	.|D	.|0	-16.3529|-16.3529	19.632|19.632	0.95713|0.95713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106;196;230;230;230;230;206	.|B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3	.|.;.;.;.;.;LDB2_HUMAN;.	T|Y	152|230;230;230;230;106	.|ENSP00000422552:C230Y;ENSP00000392089:C230Y;ENSP00000306772:C230Y;ENSP00000423963:C230Y;ENSP00000440940:C106Y	.|ENSP00000306772:C230Y	A|C	-|-	1|2	0|0	LDB2|LDB2	16122752|16122752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.473	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			T	16513654	C	T	16513654	3	4	465	1	0	0	0	0	1	0	0	0	8696	710	25	2	553	2	LDB2	4	16513654	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09		16513654	174640622	17	25303											
ART3	419	genome.wustl.edu	37	4	77003491	77003491	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr4:77003491A>G	ENST00000355810.4	+	3	703	c.584A>G	c.(583-585)aAt>aGt	p.N195S	ART3_ENST00000341029.5_Missense_Mutation_p.N195S|ART3_ENST00000349321.3_Missense_Mutation_p.N195S|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	195					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGGCTGCTAATGACCAGCTC	0.398																																																0			4											47	44	45					4																	77003491		2203	4300	6503	77222515	SO:0001583	missense	419			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.584A>G	4.37:g.77003491A>G	ENSP00000348064:p.Asn195Ser		77222515	Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	A	0.058	-1.231340	0.01505	.	.	ENSG00000156219	ENST00000341029;ENST00000513122;ENST00000355810;ENST00000349321	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	6.04	-3.1	0.05315	.	1.165300	0.06223	N	0.687226	T	0.06280	0.0162	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.22746	0.013;0.013;0.074;0.001;0.0;0.001	B;B;B;B;B;B	0.24006	0.013;0.012;0.05;0.006;0.003;0.001	T	0.45293	-0.9271	9	.	.	.	0.2606	4.3989	0.11376	0.1996:0.5236:0.1683:0.1086	.	165;195;195;195;195;195	D6RBN3;E7ESB3;B4DHX3;Q13508;Q13508-3;Q13508-2	.;.;.;NAR3_HUMAN;.;.	S	195	ENSP00000343843:N195S;ENSP00000422287:N195S;ENSP00000348064:N195S;ENSP00000304313:N195S	.	N	+	2	0	ART3	77222515	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.644000	0.05415	-0.111000	0.12001	0.460000	0.39030	AAT		0.398	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		G	77003491	A	G	77003491	3	3	465	1	0	0	0	0	1	0	0	0	998	101	4	4	590	4	ART3	4	77003491	Missense_Mutation	SNP	A	TCGA-61-2613-01A-01W-1092-09	60489837	77003491	114150785	18	25304											
GRIA2	2891	genome.wustl.edu	37	4	158224737	158224737	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr4:158224737T>A	ENST00000264426.9	+	3	542	c.263T>A	c.(262-264)aTt>aAt	p.I88N	GRIA2_ENST00000507898.1_Missense_Mutation_p.I41N|GRIA2_ENST00000393815.2_Missense_Mutation_p.I41N|GRIA2_ENST00000449365.1_Missense_Mutation_p.I41N|GRIA2_ENST00000296526.7_Missense_Mutation_p.I88N|GRIA2_ENST00000504801.1_3'UTR	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	88					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTCTATGCTATTTTTGGATTT	0.388																																																0			4											126	123	124					4																	158224737		2203	4300	6503	158444187	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.263T>A	4.37:g.158224737T>A	ENSP00000264426:p.Ile88Asn		158444187	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760529	0.89932	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000506284;ENST00000505888;ENST00000449365	D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92071	0.7487	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;0.997	D	0.92916	0.6351	10	0.87932	D	0	.	16.1438	0.81548	0.0:0.0:0.0:1.0	.	88;88;41	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	N	41;41;88;88;88;41;41;41	ENSP00000426845:I41N;ENSP00000377403:I41N;ENSP00000425217:I88N;ENSP00000296526:I88N;ENSP00000264426:I88N;ENSP00000426513:I41N;ENSP00000422038:I41N;ENSP00000389837:I41N	ENSP00000264426:I88N	I	+	2	0	GRIA2	158444187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.210000	0.71456	0.528000	0.53228	ATT		0.388	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			A	158224737	T	A	158224737	3	1	465	1	0	0	0	0	1	0	0	0	6768	1493	52	5	273	5	GRIA2	4	158224737	Missense_Mutation	SNP	T	TCGA-61-2613-01A-01W-1092-09	81221246	158224737	32929539	19	25305											
NUP155	9631	genome.wustl.edu	37	5	37310771	37310771	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:37310771T>G	ENST00000231498.3	-	23	2714	c.2511A>C	c.(2509-2511)ttA>ttC	p.L837F	NUP155_ENST00000513532.1_Intron|NUP155_ENST00000502533.1_5'Flank|NUP155_ENST00000381843.2_Missense_Mutation_p.L778F	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	837					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGAAGCAATTAATGCCCCTG	0.398																																																0			5											147	149	148					5																	37310771		2203	4300	6503	37346528	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2511A>C	5.37:g.37310771T>G	ENSP00000231498:p.Leu837Phe		37346528	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246959	0.59103	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056	D;D	0.91068	-2.78;-2.76	5.72	2.79	0.32731	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.063977	0.64402	D	0.000012	D	0.92368	0.7578	M	0.72118	2.19	0.80722	D	1	D	0.64830	0.994	D	0.77557	0.99	D	0.89727	0.3923	10	0.66056	D	0.02	-1.7977	1.5044	0.02484	0.1208:0.2175:0.1812:0.4805	.	837	O75694	NU155_HUMAN	F	837;778;799	ENSP00000231498:L837F;ENSP00000371265:L778F	ENSP00000231498:L837F	L	-	3	2	NUP155	37346528	0.116000	0.22171	1.000000	0.80357	0.998000	0.95712	-0.668000	0.05268	0.865000	0.35603	0.455000	0.32223	TTA		0.398	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		G	37310771	T	G	37310771	3	3	465	1	0	0	0	0	1	0	0	0	10756	1751	61	5	1716	5	NUP155	5	37310771	Missense_Mutation	SNP	T	TCGA-61-2613-01A-01W-1092-09		37310771	143604489	20	25306											
IQGAP2	10788	genome.wustl.edu	37	5	75888744	75888744	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:75888744G>T	ENST00000274364.6	+	9	1198	c.901G>T	c.(901-903)Gtc>Ttc	p.V301F	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	301					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TATTAATAAAGTCAACAGTAA	0.353																																																0			5											146	155	152					5																	75888744		2203	4300	6503	75924500	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.901G>T	5.37:g.75888744G>T	ENSP00000274364:p.Val301Phe		75924500	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241933	0.79912	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.51574	4.08;0.7;4.1	5.83	4.78	0.61160	.	0.187562	0.47455	D	0.000238	T	0.64283	0.2584	M	0.83774	2.66	0.80722	D	1	P	0.48694	0.914	P	0.55222	0.771	T	0.65932	-0.6048	10	0.45353	T	0.12	-24.4611	13.5837	0.61917	0.1157:0.0:0.8843:0.0	.	301	Q13576	IQGA2_HUMAN	F	301;274;251	ENSP00000274364:V301F;ENSP00000423672:V274F;ENSP00000421097:V251F	ENSP00000274364:V301F	V	+	1	0	IQGAP2	75924500	1.000000	0.71417	0.966000	0.40874	0.892000	0.51952	5.122000	0.64697	2.781000	0.95711	0.650000	0.86243	GTC		0.353	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		T	75888744	G	T	75888744	3	4	465	1	0	0	0	0	1	0	0	0	7815	1029	36	3	935	3	IQGAP2	5	75888744	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09	38577973	75888744	105026516	21	25307											
PDE8B	8622	genome.wustl.edu	37	5	76624859	76624859	+	Silent	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:76624859G>C	ENST00000264917.5	+	4	672	c.627G>C	c.(625-627)gtG>gtC	p.V209V	PDE8B_ENST00000342343.4_Silent_p.V189V|PDE8B_ENST00000333194.4_Silent_p.V209V|PDE8B_ENST00000346042.3_Silent_p.V209V|PDE8B_ENST00000340978.3_Silent_p.V209V	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	209					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AGCACACGGTGATCCTCGCAG	0.473																																																0			5											133	99	110					5																	76624859		2203	4300	6503	76660615	SO:0001819	synonymous_variant	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.627G>C	5.37:g.76624859G>C			76660615	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	CCDS4037.1																																																																																				0.473	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		C	76624859	G	C	76624859	2	2	465	1	0	0	0	0	0	0	0	1	11654	1277	45	3		3	PDE8B	5	76624859	Silent	SNP	G	TCGA-61-2613-01A-01W-1092-09	736115	76624859	104290401	22	25308											
EDIL3	10085	genome.wustl.edu	37	5	83360621	83360621	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:83360621A>T	ENST00000296591.5	-	8	1268	c.850T>A	c.(850-852)Tct>Act	p.S284T	EDIL3_ENST00000380138.3_Missense_Mutation_p.S274T|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	284	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GGTGTGAAAGAGTTAGCATAT	0.378																																																0			5											142	140	141					5																	83360621		2203	4300	6503	83396377	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.850T>A	5.37:g.83360621A>T	ENSP00000296591:p.Ser284Thr		83396377	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540396	0.65085	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98060	-4.69;-4.69	5.51	5.51	0.81932	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.95840	0.8646	N	0.14661	0.345	0.80722	D	1	B;D;P	0.57257	0.038;0.979;0.89	B;P;P	0.56563	0.143;0.801;0.636	D	0.94476	0.7689	10	0.14656	T	0.56	-21.7252	15.9157	0.79517	1.0:0.0:0.0:0.0	.	61;274;284	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	T	284;274	ENSP00000296591:S284T;ENSP00000369483:S274T	ENSP00000296591:S284T	S	-	1	0	EDIL3	83396377	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.880000	0.92407	2.218000	0.71995	0.377000	0.23210	TCT		0.378	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		T	83360621	A	T	83360621	3	4	465	1	0	0	0	0	1	0	0	0	4915	304	11	5	608	5	EDIL3	5	83360621	Missense_Mutation	SNP	A	TCGA-61-2613-01A-01W-1092-09	6735762	83360621	97554639	23	25309											
PCDHB9	57717	genome.wustl.edu	37	5	140567927	140567927	+	IGR	SNP	T	T	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:140567927T>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)			ACAATCCTCCTGAACTGATCA	0.373																																																0			5											72	76	75					5																	140567927		2054	4240	6294	140548111	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.140567927T>G			140548111	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.373	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		G	140567927	T	G	140567927	1	3	465	0	1	0	0	0	0	0	0	0	11549	1567	55	5		5	PCDHB9	5	140567927	IGR	SNP	T	TCGA-61-2613-01A-01W-1092-09	57207306	140567927	40347333	24	25310											
PCDHB13	56123	genome.wustl.edu	37	5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:140594357C>T	ENST00000341948.4	+	1	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.P221L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											97	104	102					5																	140594357		2203	4300	6503	140574541	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.662C>T	5.37:g.140594357C>T	ENSP00000345491:p.Pro221Leu		140574541	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.992937	0.93167	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.00792	5.69	3.51	2.6	0.31112	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06554	0.0168	H	0.95982	3.75	0.46478	D	0.999069	D	0.65815	0.995	D	0.71870	0.975	T	0.01162	-1.1432	9	0.66056	D	0.02	.	11.0844	0.48078	0.0:0.9018:0.0:0.0982	.	221	Q9Y5F0	PCDBD_HUMAN	L	221	ENSP00000345491:P221L	ENSP00000345491:P221L	P	+	2	0	PCDHB13	140574541	0.999000	0.42202	0.006000	0.13384	0.808000	0.45660	4.915000	0.63355	0.548000	0.28955	0.306000	0.20318	CCG		0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140594357	C	T	140594357	3	4	465	1	0	0	0	0	1	0	0	0	11538	652	23	1	664	1	PCDHB13	5	140594357	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	26430	140594357	40320903	25	25311											
LARS	51520	genome.wustl.edu	37	5	145523850	145523850	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:145523850C>G	ENST00000394434.2	-	18	1884	c.1718G>C	c.(1717-1719)tGc>tCc	p.C573S	LARS_ENST00000274562.9_Missense_Mutation_p.C546S|LARS_ENST00000510191.1_Missense_Mutation_p.C519S|LARS_ENST00000545646.1_Missense_Mutation_p.C527S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	573					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGTTCTTGAGCAAGCATGTTC	0.383																																																0			5											77	79	79					5																	145523850		2203	4300	6503	145504043	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1718G>C	5.37:g.145523850C>G	ENSP00000377954:p.Cys573Ser		145504043	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577935	0.86645	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.24	5.24	0.73138	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.92977	0.7765	H	0.98005	4.125	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.79784	0.993;0.99;0.98	D	0.95361	0.8455	10	0.87932	D	0	-4.5763	19.2389	0.93873	0.0:1.0:0.0:0.0	.	546;527;573	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	S	573;527;519;546	ENSP00000377954:C573S;ENSP00000437791:C527S;ENSP00000426005:C519S;ENSP00000274562:C546S	ENSP00000274562:C546S	C	-	2	0	LARS	145504043	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.252000	0.78309	2.624000	0.88883	0.485000	0.47835	TGC		0.383	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		G	145523850	C	G	145523850	3	3	465	1	0	0	0	0	1	0	0	0	8634	710	25	3	1872	3	LARS	5	145523850	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	4929493	145523850	35391410	26	25312											
NHLRC1	378884	genome.wustl.edu	37	6	18122526	18122526	+	Silent	SNP	A	A	G	rs115931931	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr6:18122526A>G	ENST00000340650.3	-	1	325	c.312T>C	c.(310-312)caT>caC	p.H104H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	104					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGCGGCGCGATGGGCGGCCG	0.726													G|||	580	0.115815	0.2277	0.1138	5008	,	,		13206	0.0218		0.0905	False		,,,				2504	0.089															0			6						G		697,3599		63,571,1514	7	9	9		312	-4.7	0	6	dbSNP_132	9	658,7728		34,590,3569	no	coding-synonymous	NHLRC1	NM_198586.2		97,1161,5083	GG,GA,AA		7.8464,16.2244,10.6844		104/396	18122526	1355,11327	2148	4193	6341	18230505	SO:0001819	synonymous_variant	378884			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"epilepsy, progressive myoclonus type 2B"	608072	"NHL repeat containing 1"			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.312T>C	6.37:g.18122526A>G			18230505	Q3SYB1|Q5VUK7|Q6IMH1	Silent	SNP	ENST00000340650.3	37	CCDS4542.1																																																																																				0.726	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			G	18122526	A	G	18122526	2	3	465	1	0	0	0	0	0	0	0	1	10405	330	12	4		4	NHLRC1	6	18122526	Silent	SNP	A	TCGA-61-2613-01A-01W-1092-09		18122526	152992541	27	25313											
AQP1	358	genome.wustl.edu	37	7	30963206	30963206	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr7:30963206G>A	ENST00000311813.4	+	4	827	c.772G>A	c.(772-774)Gac>Aac	p.D258N	AQP1_ENST00000409899.1_Missense_Mutation_p.D143N|AQP1_ENST00000441328.2_Missense_Mutation_p.D175N|AQP1_ENST00000434909.2_Missense_Mutation_p.D318N|AQP1_ENST00000509504.1_Missense_Mutation_p.D435N|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Missense_Mutation_p.D207N	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	258					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	CCTGGATGCCGACGACATCAA	0.642																																																0			7											45	38	40					7																	30963206		2203	4300	6503	30929731	SO:0001583	missense	358			M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.772G>A	7.37:g.30963206G>A	ENSP00000311165:p.Asp258Asn		30929731	B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048551	0.75846	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000441328;ENST00000409899;ENST00000409611;ENST00000509504	D;D;D;D;D;D	0.94723	-2.41;-2.12;-3.11;-3.5;-3.14;-2.41	5.07	5.07	0.68467	.	0.366720	0.32002	N	0.006728	D	0.93041	0.7785	L	0.36672	1.1	0.33363	D	0.572633	D;D;P;P	0.63046	0.991;0.992;0.553;0.923	P;B;B;B	0.50617	0.646;0.41;0.088;0.238	D	0.95256	0.8364	10	0.54805	T	0.06	-6.2622	13.9555	0.64144	0.0:0.0:1.0:0.0	.	318;207;143;258	B4E220;E7EM69;E9PC21;P29972	.;.;.;AQP1_HUMAN	N	318;163;258;243;175;143;207;435	ENSP00000395059:D318N;ENSP00000311165:D258N;ENSP00000405698:D175N;ENSP00000386712:D143N;ENSP00000387178:D207N;ENSP00000421315:D435N	ENSP00000265298:D163N	D	+	1	0	RP5-877J2.1;AQP1	30929731	1.000000	0.71417	0.169000	0.22859	0.727000	0.41649	5.531000	0.67148	2.345000	0.79718	0.549000	0.68633	GAC		0.642	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		A	30963206	G	A	30963206	3	1	465	1	0	0	0	0	1	0	0	0	821	1058	37	1	1043	1	AQP1	7	30963206	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09		30963206	128175457	28	25314											
STEAP1	26872	genome.wustl.edu	37	7	89791230	89791230	+	Silent	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr7:89791230C>T	ENST00000297205.2	+	4	800	c.600C>T	c.(598-600)gtC>gtT	p.V200V	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	200	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TCTGGTAGGTCCAACAAAATA	0.408																																																0			7											26	28	27					7																	89791230		2200	4278	6478	89629166	SO:0001819	synonymous_variant	26872			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.600C>T	7.37:g.89791230C>T			89629166	A4D1E0|O95034	Silent	SNP	ENST00000297205.2	37	CCDS5614.1																																																																																				0.408	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		T	89791230	C	T	89791230	2	4	465	1	0	0	0	0	0	0	0	1	15279	842	30	2		2	STEAP1	7	89791230	Silent	SNP	C	TCGA-61-2613-01A-01W-1092-09	58828024	89791230	69347433	29	25315											
CALCR	799	genome.wustl.edu	37	7	93063563	93063563	+	Splice_Site	SNP	A	A	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr7:93063563A>C	ENST00000394441.1	-	12	1507		c.e12+1		CALCR_ENST00000360249.4_Splice_Site|CALCR_ENST00000359558.2_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATGCATGCTTACCTCATTGTT	0.353																																																0			7											117	122	120					7																	93063563		2203	4300	6503	92901499	SO:0001630	splice_region_variant	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1191+1T>G	7.37:g.93063563A>C			92901499	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Splice_Site	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.989455	0.35131	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	.	.	.	3.89	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9813	0.35966	0.8346:0.0:0.0:0.1654	.	.	.	.	.	-1	.	.	.	-	.	.	CALCR	92901499	1.000000	0.71417	0.757000	0.31301	0.421000	0.31385	8.582000	0.90791	0.824000	0.34613	0.454000	0.30748	.		0.353	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	Intron	C	93063563	A	C	93063563	5	2	465	1	0	0	0	0	0	0	1	0	2579	405	14	5	239	5	CALCR	7	93063563	Splice_Site	SNP	A	TCGA-61-2613-01A-01W-1092-09	3272333	93063563	66075100	30	25316											
FOXP2	93986	genome.wustl.edu	37	7	114298295	114298295	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr7:114298295G>T	ENST00000393494.2	+	11	1720	c.1441G>T	c.(1441-1443)Gac>Tac	p.D481Y	FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Missense_Mutation_p.D389Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.D481Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.D498Y|FOXP2_ENST00000393498.2_Missense_Mutation_p.D460Y|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.D506Y			O15409	FOXP2_HUMAN	forkhead box P2	481					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCGACATTCAGACAAATACAA	0.493																																																0			7											111	92	99					7																	114298295		2203	4300	6503	114085531	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1441G>T	7.37:g.114298295G>T	ENSP00000377132:p.Asp481Tyr		114085531	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077376	0.36662	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489	D;D;D;D;D	0.91464	-2.75;-2.74;-2.72;-2.75;-2.85	5.71	5.71	0.89125	.	0.083328	0.85682	D	0.000000	D	0.94978	0.8375	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.61697	0.984;0.984;0.984;0.99	P;P;P;D	0.63192	0.75;0.75;0.75;0.912	D	0.94825	0.7990	10	0.87932	D	0	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	480;498;481;506	B7ZLK5;B4DLD9;O15409;O15409-4	.;.;FOXP2_HUMAN;.	Y	481;506;498;481;458;389	ENSP00000377132:D481Y;ENSP00000386200:D506Y;ENSP00000385069:D498Y;ENSP00000265436:D481Y;ENSP00000377129:D389Y	ENSP00000265436:D481Y	D	+	1	0	FOXP2	114085531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.597000	0.82733	2.861000	0.98227	0.650000	0.86243	GAC		0.493	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		T	114298295	G	T	114298295	3	4	465	1	0	0	0	0	1	0	0	0	6027	942	33	3	1646	3	FOXP2	7	114298295	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09	21234732	114298295	44840368	31	25317											
NAT2	10	genome.wustl.edu	37	8	18257819	18257819	+	Silent	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr8:18257819C>T	ENST00000286479.3	+	2	413	c.306C>T	c.(304-306)agC>agT	p.S102S	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	102					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	ACAAATACAGCACTGGCATGG	0.493									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							0			8											96	99	98					8																	18257819		2203	4300	6503	18302099	SO:0001819	synonymous_variant	10	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.306C>T	8.37:g.18257819C>T			18302099	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Silent	SNP	ENST00000286479.3	37	CCDS6008.1																																																																																				0.493	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		T	18257819	C	T	18257819	2	4	465	1	0	0	0	0	0	0	0	1	10177	709	25	2		2	NAT2	8	18257819	Silent	SNP	C	TCGA-61-2613-01A-01W-1092-09		18257819	128106203	32	25318											
RUNX1T1	862	genome.wustl.edu	37	8	93026879	93026879	+	Silent	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr8:93026879G>T	ENST00000523629.1	-	4	850	c.396C>A	c.(394-396)acC>acA	p.T132T	RUNX1T1_ENST00000520724.1_Silent_p.T95T|RUNX1T1_ENST00000518844.1_Silent_p.T105T|RUNX1T1_ENST00000521553.1_Silent_p.T95T|RUNX1T1_ENST00000422361.2_Silent_p.T95T|RUNX1T1_ENST00000396218.1_Silent_p.T105T|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000360348.2_Silent_p.T95T|RUNX1T1_ENST00000265814.3_Silent_p.T132T|RUNX1T1_ENST00000436581.2_Silent_p.T143T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	132	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTGCTGCAGGGTAGTAAGGA	0.517																																																0			8											101	97	98					8																	93026879		2203	4300	6503	93096055	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.396C>A	8.37:g.93026879G>T			93096055	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																				0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		T	93026879	G	T	93026879	2	4	465	1	0	0	0	0	0	0	0	1	13750	1219	43	3		3	RUNX1T1	8	93026879	Silent	SNP	G	TCGA-61-2613-01A-01W-1092-09	74769060	93026879	53337143	33	25319											
TM7SF4	81501	genome.wustl.edu	37	8	105361312	105361312	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr8:105361312C>T	ENST00000297581.2	+	2	581	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.P178S|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	178					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TCTTTTCAGTCCCAGCCATGT	0.502																																																0			8											94	91	92					8																	105361312		2203	4300	6503	105430488	SO:0001583	missense	81501			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.532C>T	8.37:g.105361312C>T	ENSP00000297581:p.Pro178Ser		105430488	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	3.289	-0.145401	0.06627	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.28454	1.61	5.7	2.86	0.33363	.	0.803616	0.11860	N	0.522445	T	0.20577	0.0495	L	0.39898	1.24	0.27850	N	0.940785	B	0.12013	0.005	B	0.08055	0.003	T	0.23154	-1.0196	9	.	.	.	-15.1307	2.8319	0.05503	0.2315:0.4813:0.0:0.2872	.	178	Q9H295	TM7S4_HUMAN	S	178	ENSP00000297581:P178S	.	P	+	1	0	TM7SF4	105430488	1.000000	0.71417	0.909000	0.35828	0.371000	0.29859	1.766000	0.38491	0.725000	0.32318	0.561000	0.74099	CCC		0.502	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		T	105361312	C	T	105361312	3	4	465	1	0	0	0	0	1	0	0	0	15976	855	30	2	534	2	TM7SF4	8	105361312	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	12334433	105361312	41002710	34	25320											
CSMD3	114788	genome.wustl.edu	37	8	113563062	113563062	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr8:113563062T>C	ENST00000297405.5	-	27	4646	c.4402A>G	c.(4402-4404)Ata>Gta	p.I1468V	CSMD3_ENST00000455883.2_Missense_Mutation_p.I1364V|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1468V|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1428V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1468	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTCGGAGTATATCATGTGAT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											71	68	69					8																	113563062		2203	4300	6503	113632238	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4402A>G	8.37:g.113563062T>C	ENSP00000297405:p.Ile1468Val		113632238	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	8.860	0.946814	0.18356	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	4.36	4.36	0.52297	CUB (5);	0.066132	0.56097	D	0.000022	T	0.37461	0.1004	N	0.04260	-0.245	0.28357	N	0.920649	B;B;B	0.28128	0.167;0.201;0.095	B;B;B	0.36092	0.138;0.217;0.061	T	0.28267	-1.0049	10	0.15066	T	0.55	.	13.985	0.64328	0.0:0.0:0.0:1.0	.	1364;1468;1428	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1428;1468;808;1364;1468	ENSP00000345799:I1428V;ENSP00000297405:I1468V;ENSP00000341558:I808V;ENSP00000412263:I1364V;ENSP00000343124:I1468V	ENSP00000297405:I1468V	I	-	1	0	CSMD3	113632238	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.982000	0.70532	1.952000	0.56665	0.482000	0.46254	ATA		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113563062	T	C	113563062	3	2	465	1	0	0	0	0	1	0	0	0	3946	1406	49	4	6901	4	CSMD3	8	113563062	Missense_Mutation	SNP	T	TCGA-61-2613-01A-01W-1092-09	8201750	113563062	32800960	35	25321											
CA9	768	genome.wustl.edu	37	9	35674344	35674344	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr9:35674344C>A	ENST00000378357.4	+	1	492	c.388C>A	c.(388-390)Cac>Aac	p.H130N	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	130	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GAATAATGCCCACAGGGACAA	0.498																																																0			9											54	51	52					9																	35674344		2203	4295	6498	35664344	SO:0001583	missense	768			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.388C>A	9.37:g.35674344C>A	ENSP00000367608:p.His130Asn		35664344	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209771	0.58343	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.63096	-0.02	5.01	5.01	0.66863	.	0.613414	0.13660	N	0.371642	T	0.70911	0.3278	L	0.36672	1.1	0.31124	N	0.708568	B;D	0.63880	0.202;0.993	B;D	0.70935	0.188;0.971	T	0.70586	-0.4831	10	0.87932	D	0	.	13.6936	0.62564	0.0:1.0:0.0:0.0	.	130;130	F5H404;Q16790	.;CAH9_HUMAN	N	130	ENSP00000367608:H130N	ENSP00000367608:H130N	H	+	1	0	CA9	35664344	0.089000	0.21612	0.947000	0.38551	0.854000	0.48673	1.773000	0.38563	2.606000	0.88127	0.655000	0.94253	CAC		0.498	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		A	35674344	C	A	35674344	3	1	465	1	0	0	0	0	1	0	0	0	2524	594	21	3	390	3	CA9	9	35674344	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09		35674344	105539087	36	25322											
AMBP	259	genome.wustl.edu	37	9	116838967	116838967	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr9:116838967C>A	ENST00000265132.3	-	2	433	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	57				Missing (in Ref. 10; AA sequence and 12; AA sequence). {ECO:0000305}.|Missing (in Ref. 11; AA sequence). {ECO:0000305}.	cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCATGATCTTCTTCAGCCAGG	0.587																																																0			9											132	99	110					9																	116838967		2203	4300	6503	115878788	SO:0001583	missense	259			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.171G>T	9.37:g.116838967C>A	ENSP00000265132:p.Lys57Asn		115878788	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738018	0.49045	.	.	ENSG00000106927	ENST00000265132	T	0.07908	3.15	3.86	1.75	0.24633	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.314299	0.32970	N	0.005437	T	0.16599	0.0399	M	0.78637	2.42	0.26906	N	0.967001	D	0.58268	0.982	P	0.55055	0.767	T	0.03910	-1.0993	10	0.46703	T	0.11	.	4.1619	0.10287	0.0:0.6149:0.2436:0.1415	.	57	P02760	AMBP_HUMAN	N	57	ENSP00000265132:K57N	ENSP00000265132:K57N	K	-	3	2	AMBP	115878788	0.982000	0.34865	0.419000	0.26584	0.722000	0.41435	2.157000	0.42320	0.809000	0.34255	0.561000	0.74099	AAG		0.587	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		A	116838967	C	A	116838967	3	1	465	1	0	0	0	0	1	0	0	0	564	912	32	3	923	3	AMBP	9	116838967	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	81164623	116838967	24374464	37	25323											
MASTL	84930	genome.wustl.edu	37	10	27459897	27459897	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:27459897C>G	ENST00000375940.4	+	8	2066	c.2009C>G	c.(2008-2010)cCa>cGa	p.P670R	MASTL_ENST00000342386.6_Missense_Mutation_p.P670R|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.P670R			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	670	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTCAGAACCATCCAGAATG	0.398																																																0			10											115	118	117					10																	27459897		2203	4300	6503	27499903	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2009C>G	10.37:g.27459897C>G	ENSP00000365107:p.Pro670Arg		27499903	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056866	0.76074	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.21031	2.03;2.03;2.03	5.53	5.53	0.82687	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159303	0.56097	D	0.000024	T	0.48909	0.1526	M	0.72894	2.215	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.44467	-0.9326	10	0.56958	D	0.05	-18.6968	19.4612	0.94918	0.0:1.0:0.0:0.0	.	670;670;670	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	R	670	ENSP00000365113:P670R;ENSP00000343446:P670R;ENSP00000365107:P670R	ENSP00000343446:P670R	P	+	2	0	MASTL	27499903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.986000	0.56937	2.592000	0.87571	0.591000	0.81541	CCA		0.398	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		G	27459897	C	G	27459897	3	3	465	1	0	0	0	0	1	0	0	0	9328	594	21	3	2039	3	MASTL	10	27459897	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09		27459897	108074850	38	25324											
GDF2	2658	genome.wustl.edu	37	10	48414224	48414224	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:48414224A>T	ENST00000249598.1	-	2	803	c.644T>A	c.(643-645)gTc>gAc	p.V215D		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	215					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTCGGACCGGACCCAGCGCTT	0.587																																																0			10											71	73	72					10																	48414224		2203	4300	6503	48034230	SO:0001583	missense	2658			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.644T>A	10.37:g.48414224A>T	ENSP00000249598:p.Val215Asp		48034230	Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690039	0.48097	.	.	ENSG00000128802	ENST00000249598	T	0.67698	-0.28	5.59	3.25	0.37280	Transforming growth factor-beta, N-terminal (1);	0.572507	0.20272	N	0.095622	T	0.72566	0.3476	M	0.70595	2.14	0.50171	D	0.999858	P	0.47484	0.896	P	0.55455	0.776	T	0.66348	-0.5946	10	0.22706	T	0.39	.	9.2502	0.37551	0.8525:0.0:0.1475:0.0	.	215	Q9UK05	GDF2_HUMAN	D	215	ENSP00000249598:V215D	ENSP00000249598:V215D	V	-	2	0	GDF2	48034230	0.627000	0.27129	0.997000	0.53966	0.312000	0.27988	2.532000	0.45659	0.408000	0.25621	0.482000	0.46254	GTC		0.587	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		T	48414224	A	T	48414224	3	4	465	1	0	0	0	0	1	0	0	0	6314	275	10	5	649	5	GDF2	10	48414224	Missense_Mutation	SNP	A	TCGA-61-2613-01A-01W-1092-09	20954327	48414224	87120523	39	25325											
C10orf71	118461	genome.wustl.edu	37	10	50533203	50533203	+	Silent	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:50533203C>T	ENST00000374144.3	+	3	2901	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	871				PI -> RL (in Ref. 5; CAC85340). {ECO:0000305}.						endometrium(1)	1						TTAAACCTATCATGCTGCCTC	0.517																																																0			10											157	144	148					10																	50533203		692	1591	2283	50203209	SO:0001819	synonymous_variant	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2613C>T	10.37:g.50533203C>T			50203209	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																				0.517	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		T	50533203	C	T	50533203	2	4	465	1	0	0	0	0	0	0	0	1	1614	816	29	2		2	C10orf71	10	50533203	Silent	SNP	C	TCGA-61-2613-01A-01W-1092-09	2118979	50533203	85001544	40	25326											
PIK3AP1	118788	genome.wustl.edu	37	10	98383242	98383242	+	Silent	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:98383242C>T	ENST00000339364.5	-	11	1841	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	PIK3AP1_ENST00000371109.3_Silent_p.E173E|PIK3AP1_ENST00000371110.2_Silent_p.E396E	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	574					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTGATGCTCTCTGAGGAAA	0.373																																																0			10											223	231	229					10																	98383242		2203	4300	6503	98373232	SO:0001819	synonymous_variant	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1722G>A	10.37:g.98383242C>T			98373232	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	CCDS31259.1																																																																																				0.373	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		T	98383242	C	T	98383242	2	4	465	1	0	0	0	0	0	0	0	1	11908	912	32	2		2	PIK3AP1	10	98383242	Silent	SNP	C	TCGA-61-2613-01A-01W-1092-09	47850039	98383242	37151505	41	25327											
RRP12	23223	genome.wustl.edu	37	10	99145734	99145734	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:99145734G>C	ENST00000370992.4	-	9	1145	c.1034C>G	c.(1033-1035)gCc>gGc	p.A345G	RRP12_ENST00000414986.1_Missense_Mutation_p.A284G|RRP12_ENST00000536831.1_Missense_Mutation_p.A63G|RRP12_ENST00000315563.6_Missense_Mutation_p.A245G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	345						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGCCTGCATGGCACAGGCTGT	0.622																																																0			10											49	32	38					10																	99145734		2199	4300	6499	99135724	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1034C>G	10.37:g.99145734G>C	ENSP00000360031:p.Ala345Gly		99135724	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934885	0.73442	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.26	5.26	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.047082	0.85682	D	0.000000	D	0.83022	0.5164	L	0.61036	1.89	0.80722	D	1	D;P;P;P	0.69078	0.997;0.707;0.775;0.92	P;P;B;P	0.61397	0.888;0.52;0.429;0.505	T	0.81482	-0.0913	10	0.34782	T	0.22	-22.8973	18.8608	0.92271	0.0:0.0:1.0:0.0	.	284;245;63;345	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	G	345;245;284;63	ENSP00000360031:A345G;ENSP00000324315:A245G;ENSP00000414863:A284G;ENSP00000446184:A63G	ENSP00000324315:A245G	A	-	2	0	RRP12	99135724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.680000	0.84062	2.460000	0.83146	0.563000	0.77884	GCC		0.622	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		C	99145734	G	C	99145734	3	2	465	1	0	0	0	0	1	0	0	0	13689	1203	42	3	2963	3	RRP12	10	99145734	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09	762492	99145734	36389013	42	25328											
DNMBP	23268	genome.wustl.edu	37	10	101715848	101715848	+	Silent	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:101715848G>A	ENST00000324109.4	-	4	1474	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.P461P	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	461					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACATTCTTTTGGGAGGTAGGC	0.493																																																0			10											98	108	104					10																	101715848		2203	4300	6503	101705838	SO:0001819	synonymous_variant	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1383C>T	10.37:g.101715848G>A			101705838	Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	CCDS7485.1																																																																																				0.493	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		A	101715848	G	A	101715848	2	1	465	1	0	0	0	0	0	0	0	1	4674	1335	47	2		2	DNMBP	10	101715848	Silent	SNP	G	TCGA-61-2613-01A-01W-1092-09	2570114	101715848	33818899	43	25329											
GRK5	2869	genome.wustl.edu	37	10	121201575	121201575	+	Silent	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:121201575C>G	ENST00000392870.2	+	11	1361	c.1032C>G	c.(1030-1032)ggC>ggG	p.G344G	GRK5_ENST00000369108.3_Silent_p.G239G	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGATCCGCGGCCGGGTGGGCA	0.657																																																0			10											83	77	79					10																	121201575		2203	4300	6503	121191565	SO:0001819	synonymous_variant	2869			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1032C>G	10.37:g.121201575C>G			121191565	D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	CCDS7612.1																																																																																				0.657	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		G	121201575	C	G	121201575	2	3	465	1	0	0	0	0	0	0	0	1	6792	726	26	3		3	GRK5	10	121201575	Silent	SNP	C	TCGA-61-2613-01A-01W-1092-09	19485727	121201575	14333172	44	25330											
PLEKHA1	59338	genome.wustl.edu	37	10	124166188	124166188	+	Splice_Site	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:124166188C>G	ENST00000368990.3	+	5	472	c.341C>G	c.(340-342)aCa>aGa	p.T114R	PLEKHA1_ENST00000368988.1_Splice_Site_p.T114R|PLEKHA1_ENST00000368989.2_Splice_Site_p.T114R|PLEKHA1_ENST00000494222.1_Intron|PLEKHA1_ENST00000433307.1_Splice_Site_p.T114R|PLEKHA1_ENST00000538022.1_Splice_Site_p.T114R	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	114					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATAAAAATTACAGTAAGTATA	0.343																																																0			10											97	99	98					10																	124166188		2203	4300	6503	124156178	SO:0001630	splice_region_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.342+1C>G	10.37:g.124166188C>G			124156178	B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205497	0.95033	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	T;T;T;T;T;T	0.20200	3.17;2.91;2.91;2.09;3.17;3.17	6.17	6.17	0.99709	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.088035	0.85682	D	0.000000	T	0.51890	0.1701	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.78314	0.991;0.988	T	0.46233	-0.9206	10	0.62326	D	0.03	-22.9613	20.8794	0.99867	0.0:1.0:0.0:0.0	.	114;114	B3KQ55;Q9HB21	.;PKHA1_HUMAN	R	114	ENSP00000357986:T114R;ENSP00000357985:T114R;ENSP00000357984:T114R;ENSP00000438608:T114R;ENSP00000376547:T114R;ENSP00000394416:T114R	ENSP00000357984:T114R	T	+	2	0	PLEKHA1	124156178	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.325000	0.79124	2.941000	0.99782	0.655000	0.94253	ACA		0.343	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974	Missense_Mutation	G	124166188	C	G	124166188	5	3	465	1	0	0	0	0	0	0	1	0	12055	492	17	3	355	3	PLEKHA1	10	124166188	Splice_Site	SNP	C	TCGA-61-2613-01A-01W-1092-09	2964613	124166188	11368559	45	25331											
RRM1	6240	genome.wustl.edu	37	11	4144499	4144499	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:4144499C>T	ENST00000300738.5	+	12	1409	c.1205C>T	c.(1204-1206)aCc>aTc	p.T402I	RRM1_ENST00000537197.1_Missense_Mutation_p.T64I|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Missense_Mutation_p.T180I|RRM1_ENST00000423050.2_Missense_Mutation_p.T305I	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	402					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GAAACAGGCACCCCGTATATG	0.463																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)											0			11											108	107	108					11																	4144499		2201	4298	6499	4101075	SO:0001583	missense	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1205C>T	11.37:g.4144499C>T	ENSP00000300738:p.Thr402Ile		4101075	Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544971	0.65198	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.71	4.79	0.61399	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.090008	0.85682	D	0.000000	T	0.65923	0.2738	M	0.88842	2.985	0.80722	D	1	P	0.52316	0.952	P	0.57720	0.826	T	0.73496	-0.3964	10	0.59425	D	0.04	-13.1619	15.117	0.72410	0.1426:0.8574:0.0:0.0	.	402	P23921	RIR1_HUMAN	I	402;305;315;180;180;64	ENSP00000300738:T402I;ENSP00000390539:T305I;ENSP00000431464:T180I;ENSP00000442148:T64I	ENSP00000300738:T402I	T	+	2	0	RRM1	4101075	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	7.487000	0.81328	1.400000	0.46741	0.563000	0.77884	ACC		0.463	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		T	4144499	C	T	4144499	3	4	465	1	0	0	0	0	1	0	0	0	13684	507	18	2	1251	2	RRM1	11	4144499	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09		4144499	130862017	46	25332											
OR8K1	390157	genome.wustl.edu	37	11	56114246	56114246	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:56114246C>G	ENST00000279783.2	+	1	826	c.732C>G	c.(730-732)ttC>ttG	p.F244L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACAAAGCCTTCTCCACCTGTA	0.403										HNSCC(65;0.19)																																						0			11											121	105	110					11																	56114246		2201	4296	6497	55870822	SO:0001583	missense	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.732C>G	11.37:g.56114246C>G	ENSP00000279783:p.Phe244Leu		55870822	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550773	0.65311	.	.	ENSG00000150261	ENST00000279783	T	0.00269	8.37	5.0	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000089	T	0.00300	0.0009	M	0.75447	2.3	0.34387	D	0.693786	D	0.56746	0.977	P	0.55011	0.766	T	0.68236	-0.5462	10	0.51188	T	0.08	-27.8798	3.2966	0.06968	0.1203:0.5569:0.1171:0.2057	.	244	Q8NGG5	OR8K1_HUMAN	L	244	ENSP00000279783:F244L	ENSP00000279783:F244L	F	+	3	2	OR8K1	55870822	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.260000	0.08708	0.493000	0.27837	0.549000	0.68633	TTC		0.403	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		G	56114246	C	G	56114246	3	3	465	1	0	0	0	0	1	0	0	0	11243	912	32	3	734	3	OR8K1	11	56114246	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	51969747	56114246	78892270	47	25333											
MS4A12	54860	genome.wustl.edu	37	11	60269504	60269504	+	Missense_Mutation	SNP	C	C	T	rs200547614	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:60269504C>T	ENST00000016913.4	+	4	520	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	MS4A12_ENST00000537076.1_Missense_Mutation_p.R109C	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	155						integral component of membrane (GO:0016021)		p.R155S(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGAGCTTTCCCGTTGTCTGGT	0.398													C|||	3	0.000599042	0	0	5008	,	,		18256	0.003		0	False		,,,				2504	0															1	Substitution - Missense(1)	lung(1)	11											218	208	212					11																	60269504		2203	4300	6503	60026080	SO:0001583	missense	54860			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.463C>T	11.37:g.60269504C>T	ENSP00000016913:p.Arg155Cys		60026080	F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630898	0.28978	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.02656	4.21;4.21;4.21	5.21	-5.7	0.02421	.	2.546630	0.01192	N	0.007350	T	0.03348	0.0097	L	0.39898	1.24	0.09310	N	1	P	0.49635	0.926	P	0.45946	0.498	T	0.32025	-0.9922	10	0.59425	D	0.04	.	1.0954	0.01672	0.2983:0.3249:0.0981:0.2787	.	155	Q9NXJ0	M4A12_HUMAN	C	109;109;155	ENSP00000440424:R109C;ENSP00000431959:R109C;ENSP00000016913:R155C	ENSP00000016913:R155C	R	+	1	0	MS4A12	60026080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.916000	0.01576	-1.350000	0.02199	-1.945000	0.00491	CGT		0.398	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			T	60269504	C	T	60269504	3	4	465	1	0	0	0	0	1	0	0	0	9856	652	23	1	473	1	MS4A12	11	60269504	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	4155258	60269504	74737012	48	25334											
CPT1A	1374	genome.wustl.edu	37	11	68566799	68566799	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:68566799T>A	ENST00000265641.5	-	6	734	c.580A>T	c.(580-582)Atg>Ttg	p.M194L	CPT1A_ENST00000538994.1_5'Flank|CPT1A_ENST00000539743.1_Missense_Mutation_p.M194L|CPT1A_ENST00000540367.1_Missense_Mutation_p.M194L|CPT1A_ENST00000376618.2_Missense_Mutation_p.M194L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	194					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TCTTCCTTCATAAGAGGCCTC	0.408																																																0			11											87	85	86					11																	68566799		2200	4294	6494	68323375	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.580A>T	11.37:g.68566799T>A	ENSP00000265641:p.Met194Leu		68323375	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	t	3.346	-0.133640	0.06711	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.66	3.44	0.39384	.	0.040073	0.85682	D	0.000000	T	0.63307	0.2500	N	0.01289	-0.905	0.49687	D	0.999813	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.15870	0.002;0.014;0.005	T	0.63817	-0.6551	10	0.02654	T	1	.	12.5062	0.55981	0.0:0.0:0.1494:0.8506	.	194;194;194	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	L	194	ENSP00000439084:M194L;ENSP00000365803:M194L;ENSP00000265641:M194L;ENSP00000446108:M194L	ENSP00000265641:M194L	M	-	1	0	CPT1A	68323375	1.000000	0.71417	0.870000	0.34147	0.939000	0.58152	5.918000	0.69996	1.742000	0.51746	0.379000	0.24179	ATG		0.408	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		A	68566799	T	A	68566799	3	1	465	1	0	0	0	0	1	0	0	0	3831	1406	49	5	1837	5	CPT1A	11	68566799	Missense_Mutation	SNP	T	TCGA-61-2613-01A-01W-1092-09	8297295	68566799	66439717	49	25335											
GRIA4	2893	genome.wustl.edu	37	11	105789473	105789473	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:105789473A>T	ENST00000530497.1	+	10	1305	c.1305A>T	c.(1303-1305)gaA>gaT	p.E435D	GRIA4_ENST00000393127.2_Missense_Mutation_p.E435D|GRIA4_ENST00000282499.5_Missense_Mutation_p.E435D|GRIA4_ENST00000525187.1_Missense_Mutation_p.E435D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	435					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AAAATCATGAAATGTTTGAAG	0.308																																																0			11											52	51	51					11																	105789473		2202	4299	6501	105294683	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1305A>T	11.37:g.105789473A>T	ENSP00000435775:p.Glu435Asp		105294683	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.112046	0.37242	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.68	4.56	0.56223	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.075439	0.56097	D	0.000027	T	0.61937	0.2387	N	0.26042	0.785	0.46044	D	0.998831	B;B	0.09022	0.001;0.002	B;B	0.15052	0.008;0.012	T	0.55915	-0.8065	10	0.39692	T	0.17	.	4.9603	0.14063	0.708:0.0:0.1473:0.1446	.	435;435	P48058;G3V164	GRIA4_HUMAN;.	D	435	ENSP00000282499:E435D;ENSP00000376835:E435D;ENSP00000435775:E435D;ENSP00000432180:E435D	ENSP00000282499:E435D	E	+	3	2	GRIA4	105294683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.828000	0.39111	1.097000	0.41459	0.528000	0.53228	GAA		0.308	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			T	105789473	A	T	105789473	3	4	465	1	0	0	0	0	1	0	0	0	6770	11	1	5	1380	5	GRIA4	11	105789473	Missense_Mutation	SNP	A	TCGA-61-2613-01A-01W-1092-09	37222674	105789473	29217043	50	25336											
CEP164	22897	genome.wustl.edu	37	11	117251328	117251328	+	Splice_Site	SNP	A	A	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:117251328A>G	ENST00000278935.3	+	12	1464		c.e12-1		CEP164_ENST00000533706.1_Splice_Site	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa						cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCTCTCCTACAGGCCCAGCAA	0.517																																																0			11											62	52	55					11																	117251328		2199	4295	6494	116756538	SO:0001630	splice_region_variant	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1318-1A>G	11.37:g.117251328A>G			116756538	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Splice_Site	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	A	9.503	1.103791	0.20632	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1097	0.48226	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP164	116756538	1.000000	0.71417	0.987000	0.45799	0.026000	0.11368	4.278000	0.58946	2.114000	0.64651	0.533000	0.62120	.		0.517	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	Intron	G	117251328	A	G	117251328	5	3	465	1	0	0	0	0	0	0	1	0	3249	202	7	4	1354	4	CEP164	11	117251328	Splice_Site	SNP	A	TCGA-61-2613-01A-01W-1092-09	11461855	117251328	17755188	51	25337											
KRT6B	3854	genome.wustl.edu	37	12	52845451	52845451	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr12:52845451C>A	ENST00000252252.3	-	1	459	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	138	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TTGACAGTGACCTCTTGGATG	0.637																																																0			12											140	185	170					12																	52845451		2201	4300	6501	51131718	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.412G>T	12.37:g.52845451C>A	ENSP00000252252:p.Val138Phe		51131718	P48669	Missense_Mutation	SNP	ENST00000252252.3	37	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392902	0.83011	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.91686	-2.89	3.28	3.28	0.37604	.	0.000000	0.53938	D	0.000053	D	0.97114	0.9057	H	0.95574	3.69	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.98358	1.0547	10	0.87932	D	0	.	15.9007	0.79373	0.0:1.0:0.0:0.0	.	138	P04259	K2C6B_HUMAN	F	138	ENSP00000252252:V138F	ENSP00000252252:V138F	V	-	1	0	KRT6B	51131718	.	.	1.000000	0.80357	0.921000	0.55340	.	.	2.160000	0.67779	0.298000	0.19748	GTC		0.637	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		A	52845451	C	A	52845451	3	1	465	1	0	0	0	0	1	0	0	0	8481	507	18	3	1318	3	KRT6B	12	52845451	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09		52845451	81006444	52	25338											
CCDC62	84660	genome.wustl.edu	37	12	123282748	123282748	+	Splice_Site	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr12:123282748G>A	ENST00000253079.6	+	8	1321		c.e8+1		CCDC62_ENST00000392441.4_Splice_Site|CCDC62_ENST00000537566.1_Splice_Site|CCDC62_ENST00000392440.2_Splice_Site	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62						cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TGGACTCCAGGTAATCTTAGC	0.378																																																0			12											52	52	52					12																	123282748		2203	4300	6503	121848701	SO:0001630	splice_region_variant	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.977+1G>A	12.37:g.123282748G>A			121848701	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Splice_Site	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	.	16.30	3.085549	0.55861	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.485	0.61359	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC62	121848701	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	4.649000	0.61433	2.257000	0.74773	0.637000	0.83480	.		0.378	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573	Intron	A	123282748	G	A	123282748	5	1	465	1	0	0	0	0	0	0	1	0	2833	1275	44	2	1008	2	CCDC62	12	123282748	Splice_Site	SNP	G	TCGA-61-2613-01A-01W-1092-09	70437297	123282748	10569147	53	25339											
SETD8	387893	genome.wustl.edu	37	12	123879732	123879732	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr12:123879732C>T	ENST00000402868.3	+	4	854	c.428C>T	c.(427-429)tCa>tTa	p.S143L	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Missense_Mutation_p.S143L			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	184					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		ACTCCACCCTCATCTTGTGAT	0.502																																																0			12											25	26	26					12																	123879732		2203	4296	6499	122445685	SO:0001583	missense	387893			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.428C>T	12.37:g.123879732C>T	ENSP00000384629:p.Ser143Leu		122445685	A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	37	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	C	9.638	1.138199	0.21123	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D	0.98221	-4.8;-4.8	5.7	1.29	0.21616	.	0.597931	0.17149	N	0.185148	D	0.92430	0.7597	N	0.12182	0.205	0.19775	N	0.999954	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.83855	0.0265	10	0.12766	T	0.61	0.0687	8.0138	0.30368	0.0:0.5387:0.0:0.4613	.	184;143	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	L	143;143;134	ENSP00000384629:S143L;ENSP00000332995:S143L	ENSP00000332995:S143L	S	+	2	0	SETD8	122445685	0.911000	0.30947	0.790000	0.31976	0.924000	0.55760	0.762000	0.26503	0.354000	0.24105	0.561000	0.74099	TCA		0.502	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		T	123879732	C	T	123879732	3	4	465	1	0	0	0	0	1	0	0	0	14140	838	29	2	442	2	SETD8	12	123879732	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	596984	123879732	9972163	54	25340											
PGAM5	192111	genome.wustl.edu	37	12	133294371	133294371	+	Missense_Mutation	SNP	A	A	G	rs117147264	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr12:133294371A>G	ENST00000498926.2	+	4	630	c.572A>G	c.(571-573)aAg>aGg	p.K191R	PGAM5_ENST00000317555.2_Missense_Mutation_p.K191R|PGAM5_ENST00000543955.1_Missense_Mutation_p.K42R|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000454808.2_Missense_Mutation_p.K42R	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	191					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		TCTCATTGGAAGCCGGAAGCT	0.652													A|||	163	0.0325479	0.003	0.1671	5008	,	,		12769	0		0.0358	False		,,,				2504	0.0072															0			12						A	ARG/LYS,ARG/LYS,ARG/LYS	38,4320		0,38,2141	22	28	26		572,572,572	5.5	1	12	dbSNP_132	26	321,8239		3,315,3962	yes	missense,missense,missense	PGAM5	NM_001170543.1,NM_001170544.1,NM_138575.3	26,26,26	3,353,6103	GG,GA,AA		3.75,0.872,2.7791	benign,benign,benign	191/290,191/289,191/256	133294371	359,12559	2179	4280	6459	131804444	SO:0001583	missense	192111			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.572A>G	12.37:g.133294371A>G	ENSP00000438465:p.Lys191Arg		131804444	A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	37	CCDS53845.1	74	0.03388278388278388	2	0.0040650406504065045	48	0.13259668508287292	0	0.0	24	0.0316622691292876	A	11.76	1.734893	0.30774	0.00872	0.0375	ENSG00000247077	ENST00000317555;ENST00000498926;ENST00000543955;ENST00000454808	T;T	0.71817	-0.6;-0.6	5.5	5.5	0.81552	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	T	0.00724	0.0024	N	0.10760	0.04	0.09310	P	0.99999969864	B;B	0.22683	0.035;0.073	B;B	0.19148	0.024;0.019	T	0.10245	-1.0638	9	0.34782	T	0.22	-20.1292	15.6131	0.76744	1.0:0.0:0.0:0.0	.	191;191	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	R	191;191;42;42	ENSP00000321503:K191R;ENSP00000438465:K191R	ENSP00000321503:K191R	K	+	2	0	PGAM5	131804444	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	8.497000	0.90488	2.084000	0.62774	0.533000	0.62120	AAG		0.652	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		G	133294371	A	G	133294371	3	3	465	1	0	0	0	0	1	0	0	0	11776	72	3	4	586	4	PGAM5	12	133294371	Missense_Mutation	SNP	A	TCGA-61-2613-01A-01W-1092-09	9414639	133294371	557524	55	25341											
FAM96A	84191	genome.wustl.edu	37	15	64365168	64365168	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr15:64365168G>C	ENST00000300030.3	-	5	694	c.445C>G	c.(445-447)Cgg>Ggg	p.R149G	FAM96A_ENST00000380290.3_3'UTR|FAM96A_ENST00000558779.1_5'UTR	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	149					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ACAATTTCCCGTAAGTTGGGG	0.388																																																0			15											163	138	146					15																	64365168		2203	4300	6503	62152221	SO:0001583	missense	84191				CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.445C>G	15.37:g.64365168G>C	ENSP00000300030:p.Arg149Gly		62152221	A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544897	0.45280	.	.	ENSG00000166797	ENST00000300030	.	.	.	5.55	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.72118	2.19	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.76645	-0.2883	9	0.44086	T	0.13	-15.3486	13.5002	0.61449	0.0:0.0:0.8424:0.1576	.	149	Q9H5X1	FA96A_HUMAN	G	149	.	ENSP00000300030:R149G	R	-	1	2	FAM96A	62152221	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	5.835000	0.69368	1.318000	0.45170	-0.181000	0.13052	CGG		0.388	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		C	64365168	G	C	64365168	3	2	465	1	0	0	0	0	1	0	0	0	5654	1144	40	3	41	3	FAM96A	15	64365168	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09		64365168	38166224	56	25342											
USP7	7874	genome.wustl.edu	37	16	8988445	8988445	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:8988445T>C	ENST00000344836.4	-	30	3362	c.3164A>G	c.(3163-3165)gAg>gGg	p.E1055G	USP7_ENST00000381886.4_Missense_Mutation_p.E1039G|USP7_ENST00000535863.1_Missense_Mutation_p.E956G	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1055					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TACTTCATACTCGTCTTCATT	0.423																																																0			16											58	64	62					16																	8988445		2197	4300	6497	8895946	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3164A>G	16.37:g.8988445T>C	ENSP00000343535:p.Glu1055Gly		8895946	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313402	0.60414	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.08458	3.09;3.1	5.61	5.61	0.85477	.	0.050868	0.85682	D	0.000000	T	0.09818	0.0241	L	0.41824	1.3	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.07028	-1.0794	10	0.45353	T	0.12	.	15.8002	0.78447	0.0:0.0:0.0:1.0	.	1055;1039	Q93009;B7Z815	UBP7_HUMAN;.	G	1055;1063;956	ENSP00000343535:E1055G;ENSP00000443646:E956G	ENSP00000343535:E1055G	E	-	2	0	USP7	8895946	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.577000	0.82486	2.138000	0.66242	0.454000	0.30748	GAG		0.423	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			C	8988445	T	C	8988445	3	2	465	1	0	0	0	0	1	0	0	0	17088	1551	54	4	152	4	USP7	16	8988445	Missense_Mutation	SNP	T	TCGA-61-2613-01A-01W-1092-09		8988445	81366308	57	25343											
USP7	7874	genome.wustl.edu	37	16	8988939	8988939	+	Silent	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:8988939G>A	ENST00000344836.4	-	28	3186	c.2988C>T	c.(2986-2988)caC>caT	p.H996H	USP7_ENST00000381886.4_Silent_p.H980H|USP7_ENST00000535863.1_Silent_p.H897H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	996					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AGACCTCTTTGTGGAAATGCG	0.507																																																0			16											261	243	249					16																	8988939		2197	4300	6497	8896440	SO:0001819	synonymous_variant	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2988C>T	16.37:g.8988939G>A			8896440	A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	CCDS32385.1																																																																																				0.507	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			A	8988939	G	A	8988939	2	1	465	1	0	0	0	0	0	0	0	1	17088	1368	48	2		2	USP7	16	8988939	Silent	SNP	G	TCGA-61-2613-01A-01W-1092-09	494	8988939	81365814	58	25344											
ITGAM	3684	genome.wustl.edu	37	16	31309089	31309089	+	Silent	SNP	T	T	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:31309089T>G	ENST00000287497.8	+	14	1596	c.1521T>G	c.(1519-1521)gcT>gcG	p.A507A	ITGAM_ENST00000544665.3_Silent_p.A508A			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	507					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGTGTGATGCTGTTCTCTACG	0.647																																																0			16											62	66	65					16																	31309089		2175	4284	6459	31216590	SO:0001819	synonymous_variant	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1521T>G	16.37:g.31309089T>G			31216590	Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	CCDS45470.1																																																																																				0.647	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		G	31309089	T	G	31309089	2	3	465	1	0	0	0	0	0	0	0	1	7887	1567	55	5		5	ITGAM	16	31309089	Silent	SNP	T	TCGA-61-2613-01A-01W-1092-09	22320150	31309089	59045664	59	25345											
CLEC18C	283971	genome.wustl.edu	37	16	70208295	70208295	+	Silent	SNP	G	G	A	rs201003806	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:70208295G>A	ENST00000569347.2	+	1	368	c.114G>A	c.(112-114)ccG>ccA	p.P38P	CLEC18C_ENST00000561612.1_3'UTR|CLEC18C_ENST00000314151.8_Silent_p.P38P|RP11-296I10.3_ENST00000502126.1_RNA|CLEC18C_ENST00000541793.2_Silent_p.P38P|RP11-296I10.3_ENST00000566989.1_RNA|CLEC18C_ENST00000536907.2_Silent_p.P38P	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	38						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						AGCAGGCTCCGATGGCCGGAG	0.662																																																0			16											1	1	1					16																	70208295		223	742	965	68765796	SO:0001819	synonymous_variant	283971			AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"C-type lectin domain containing"	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.114G>A	16.37:g.70208295G>A			68765796	Q8IUW8	Silent	SNP	ENST00000569347.2	37	CCDS32473.1																																																																																				0.662	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434588.2	NM_173619		A	70208295	G	A	70208295	2	1	465	1	0	0	0	0	0	0	0	1	3504	1045	37	1		1	CLEC18C	16	70208295	Silent	SNP	G	TCGA-61-2613-01A-01W-1092-09	38899206	70208295	20146458	60	25346											
FANCA	2175	genome.wustl.edu	37	16	89813265	89813265	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:89813265G>T	ENST00000389301.3	-	34	3412	c.3382C>A	c.(3382-3384)Cag>Aag	p.Q1128K	FANCA_ENST00000568369.1_Missense_Mutation_p.Q1128K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1128			Q -> E (in FA). {ECO:0000269|PubMed:9371798}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGATGTCCTGTGTCAGGGCA	0.567			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0			16	GRCh37	CM970498	FANCA	M							66	49	55					16																	89813265		2197	4292	6489	88340766	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3382C>A	16.37:g.89813265G>T	ENSP00000373952:p.Gln1128Lys		88340766	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325187	0.24080	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.83755	-1.76	5.09	4.12	0.48240	.	0.548010	0.17604	N	0.168324	T	0.68705	0.3030	N	0.22421	0.69	0.35262	D	0.779653	B;B;B	0.23185	0.081;0.006;0.002	B;B;B	0.18263	0.021;0.004;0.004	T	0.66881	-0.5811	10	0.29301	T	0.29	-9.2894	6.5132	0.22234	0.2986:0.0:0.7014:0.0	.	105;1128;1128	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	K	1128;105	ENSP00000373952:Q1128K	ENSP00000306281:Q105K	Q	-	1	0	FANCA	88340766	0.980000	0.34600	0.134000	0.22075	0.426000	0.31534	1.602000	0.36783	1.250000	0.43966	0.561000	0.74099	CAG		0.567	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89813265	G	T	89813265	3	4	465	1	0	0	0	0	1	0	0	0	5662	1386	48	3	1025	3	FANCA	16	89813265	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09	19604970	89813265	541488	61	25347											
SMTNL2	342527	genome.wustl.edu	37	17	4510772	4510772	+	Missense_Mutation	SNP	G	G	A	rs113952457		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr17:4510772G>A	ENST00000389313.4	+	8	1443	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R315H|RP11-141J13.5_ENST00000573270.1_lincRNA	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	459										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CACCTGCGTCGCTTCGAGTAA	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		17228	0		0	False		,,,				2504	0															0			17						G	HIS/ARG,HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	116	114	115		1376,944	0.9	1	17	dbSNP_132	115	0,8600		0,0,4300	yes	missense,missense	SMTNL2	NM_001114974.1,NM_198501.2	29,29	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	benign,benign	459/462,315/318	4510772	10,12996	2203	4300	6503	4457521	SO:0001583	missense	342527			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1376G>A	17.37:g.4510772G>A	ENSP00000373964:p.Arg459His		4457521	Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	CCDS45583.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.99	1.506174	0.26949	0.00227	0.0	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.84070	-1.79;-1.8	5.12	0.852	0.18995	Calponin homology domain (2);	.	.	.	.	T	0.68705	0.3030	N	0.16478	0.41	0.29352	N	0.865252	B	0.12630	0.006	B	0.06405	0.002	T	0.58713	-0.7588	9	0.48119	T	0.1	-8.4017	8.8455	0.35168	0.3221:0.0:0.6779:0.0	.	459	Q2TAL5	SMTL2_HUMAN	H	315;459	ENSP00000345143:R315H;ENSP00000373964:R459H	ENSP00000345143:R315H	R	+	2	0	SMTNL2	4457521	0.534000	0.26362	0.993000	0.49108	0.218000	0.24690	0.310000	0.19356	0.026000	0.15269	-0.140000	0.14226	CGC		0.627	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		A	4510772	G	A	4510772	3	1	465	1	0	0	0	0	1	0	0	0	14819	1087	38	1	1406	1	SMTNL2	17	4510772	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09		4510772	76684438	62	25348											
TP53	7157	genome.wustl.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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"	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	17	GRCh37	CM070299	TP53	M							51	51	51					17																	7578413		2203	4300	6503	7519138	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.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met		7519138	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	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	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578413	C	T	7578413	3	4	465	1	0	0	0	0	1	0	0	0	16381	478	17	2	781	2	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	3067641	7578413	73616797	63	25349											
NF1	4763	genome.wustl.edu	37	17	29576134	29576134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr17:29576134C>A	ENST00000358273.4	+	30	4490	c.4107C>A	c.(4105-4107)taC>taA	p.Y1369*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y1369*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1369	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGTTTATACCAGGTATGCT	0.403			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17											155	141	146					17																	29576134		2203	4300	6503	26600260	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4107C>A	17.37:g.29576134C>A	ENSP00000351015:p.Tyr1369*		26600260	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	45	11.945545	0.99620	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.74	2.59	0.31030	.	0.061164	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5295	0.44969	0.0:0.7448:0.0:0.2552	.	.	.	.	X	1369;1369;1035	.	ENSP00000348498:Y1369X	Y	+	3	2	NF1	26600260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.793000	0.26944	0.393000	0.25203	0.563000	0.77884	TAC		0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29576134	C	A	29576134	4	1	465	1	0	0	0	0	0	1	0	0	10356	518	18	3	4286	3	NF1	17	29576134	Nonsense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	21997721	29576134	51619076	64	25350											
LIG3	3980	genome.wustl.edu	37	17	33313065	33313065	+	Silent	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr17:33313065G>A	ENST00000378526.4	+	3	739	c.606G>A	c.(604-606)ttG>ttA	p.L202L	LIG3_ENST00000586407.1_3'UTR|LIG3_ENST00000262327.5_Silent_p.L202L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	202					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGGCTAAGTTGACAACCACTG	0.458								Other BER factors																																								0			17											139	135	136					17																	33313065		2203	4300	6503	30337178	SO:0001819	synonymous_variant	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.606G>A	17.37:g.33313065G>A			30337178	Q16714|Q6NVK3	Silent	SNP	ENST00000378526.4	37	CCDS11284.2																																																																																				0.458	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		A	33313065	G	A	33313065	2	1	465	1	0	0	0	0	0	0	0	1	8782	1281	45	2		2	LIG3	17	33313065	Silent	SNP	G	TCGA-61-2613-01A-01W-1092-09	3736931	33313065	47882145	65	25351											
SETBP1	26040	genome.wustl.edu	37	18	42532487	42532487	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr18:42532487T>C	ENST00000282030.5	+	4	3478	c.3182T>C	c.(3181-3183)aTg>aCg	p.M1061T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1061						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATGCCTATGATGAACCTTGGT	0.488									Schinzel-Giedion syndrome																																							0			18											116	96	103					18																	42532487		2203	4300	6503	40786485	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3182T>C	18.37:g.42532487T>C	ENSP00000282030:p.Met1061Thr		40786485	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	T	14.29	2.489822	0.44249	.	.	ENSG00000152217	ENST00000282030	T	0.69435	-0.4	5.68	5.68	0.88126	.	0.041667	0.85682	D	0.000000	T	0.65344	0.2682	N	0.14661	0.345	0.44762	D	0.997763	D	0.62365	0.991	P	0.56751	0.805	T	0.71790	-0.4486	10	0.72032	D	0.01	.	15.9269	0.79624	0.0:0.0:0.0:1.0	.	1061	Q9Y6X0	SETBP_HUMAN	T	1061	ENSP00000282030:M1061T	ENSP00000282030:M1061T	M	+	2	0	SETBP1	40786485	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.013000	0.88655	2.174000	0.68829	0.459000	0.35465	ATG		0.488	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		C	42532487	T	C	42532487	3	2	465	1	0	0	0	0	1	0	0	0	14132	1464	51	4	3385	4	SETBP1	18	42532487	Missense_Mutation	SNP	T	TCGA-61-2613-01A-01W-1092-09		42532487	35544761	66	25352											
FCGBP	8857	genome.wustl.edu	37	19	40408684	40408684	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr19:40408684C>A	ENST00000221347.6	-	8	4162	c.4155G>T	c.(4153-4155)caG>caT	p.Q1385H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1385	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCACACATCTGCTGGTAGT	0.562																																																0			19											144	124	131					19																	40408684		2203	4300	6503	45100524	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4155G>T	19.37:g.40408684C>A	ENSP00000221347:p.Gln1385His		45100524	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	6.922	0.539814	0.13250	.	.	ENSG00000090920	ENST00000221347	T	0.60672	0.17	4.71	3.67	0.42095	von Willebrand factor, type D domain (3);	0.262657	0.30949	N	0.008545	T	0.39358	0.1075	L	0.27975	0.815	0.09310	N	0.999996	B	0.22003	0.063	B	0.22880	0.042	T	0.26087	-1.0113	10	0.48119	T	0.1	.	4.513	0.11921	0.1867:0.6382:0.0:0.1751	.	1385	Q9Y6R7	FCGBP_HUMAN	H	1385	ENSP00000221347:Q1385H	ENSP00000221347:Q1385H	Q	-	3	2	FCGBP	45100524	0.000000	0.05858	0.990000	0.47175	0.148000	0.21650	-0.141000	0.10327	0.990000	0.38787	-0.164000	0.13417	CAG		0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40408684	C	A	40408684	3	1	465	1	0	0	0	0	1	0	0	0	5778	912	32	3	12178	3	FCGBP	19	40408684	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09		40408684	18720299	67	25353											
NCR1	9437	genome.wustl.edu	37	19	55418134	55418134	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr19:55418134G>C	ENST00000291890.4	+	3	362	c.324G>C	c.(322-324)gaG>gaC	p.E108D	NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.E108D|NCR1_ENST00000598576.1_Missense_Mutation_p.E96D|NCR1_ENST00000594765.1_Missense_Mutation_p.E108D|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.E108D	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	108	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCTGGTCAGAGCCCAGCAACT	0.517																																																0			19											78	85	83					19																	55418134		2203	4300	6503	60109946	SO:0001583	missense	9437			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.324G>C	19.37:g.55418134G>C	ENSP00000291890:p.Glu108Asp		60109946	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626723	0.28978	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.13657	2.57;2.57;2.57	3.42	0.0562	0.14318	Immunoglobulin-like fold (1);	0.574932	0.15684	N	0.249799	T	0.13543	0.0328	M	0.75085	2.285	0.09310	N	1	B;B;B	0.32620	0.378;0.154;0.295	B;B;B	0.31290	0.121;0.077;0.127	T	0.19031	-1.0318	10	0.62326	D	0.03	.	3.1941	0.06628	0.2298:0.0:0.5641:0.2061	.	108;108;108	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	D	108	ENSP00000291890:E108D;ENSP00000404434:E108D;ENSP00000339515:E108D	ENSP00000291890:E108D	E	+	3	2	NCR1	60109946	0.003000	0.15002	0.001000	0.08648	0.101000	0.19017	0.018000	0.13422	0.110000	0.17919	-0.263000	0.10527	GAG		0.517	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			C	55418134	G	C	55418134	3	2	465	1	0	0	0	0	1	0	0	0	10237	962	34	3	334	3	NCR1	19	55418134	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09	15009450	55418134	3710849	68	25354											
SLC23A2	9962	genome.wustl.edu	37	20	4854621	4854621	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr20:4854621C>T	ENST00000379333.1	-	11	1455	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	SLC23A2_ENST00000338244.1_Missense_Mutation_p.V355M|SLC23A2_ENST00000424750.2_Missense_Mutation_p.V241M|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	355					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCAGAAGCACGCCTTGCCTG	0.557																																																0			20											118	104	109					20																	4854621		2203	4300	6503	4802621	SO:0001583	missense	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1063G>A	20.37:g.4854621C>T	ENSP00000368637:p.Val355Met		4802621	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	CCDS13085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.659541|2.659541	0.47467|0.47467	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.20598	.|2.08;2.08;2.06	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.055471	.|0.64402	.|D	.|0.000001	T|T	0.41627|0.41627	0.1167|0.1167	L|L	0.52905|0.52905	1.665|1.665	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D;D	.|0.59357	.|0.985;0.985;0.985	.|P;P;P	.|0.61397	.|0.787;0.888;0.888	T|T	0.12192|0.12192	-1.0557|-1.0557	5|10	.|0.87932	.|D	.|0	-18.6378|-18.6378	18.4213|18.4213	0.90591|0.90591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|241;355;355	.|B4DJZ1;A0MSJ5;Q9UGH3	.|.;.;S23A2_HUMAN	H|M	111|355;355;241	.|ENSP00000368637:V355M;ENSP00000344322:V355M;ENSP00000406601:V241M	.|ENSP00000344322:V355M	R|V	-|-	2|1	0|0	SLC23A2|SLC23A2	4802621|4802621	0.999000|0.999000	0.42202|0.42202	0.587000|0.587000	0.28692|0.28692	0.002000|0.002000	0.02628|0.02628	3.819000|3.819000	0.55686|0.55686	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.557	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			T	4854621	C	T	4854621	3	4	465	1	0	0	0	0	1	0	0	0	14466	536	19	1	917	1	SLC23A2	20	4854621	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09		4854621	58170899	69	25355											
ENTPD6	955	genome.wustl.edu	37	20	25203487	25203487	+	Silent	SNP	C	C	T	rs375550123		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr20:25203487C>T	ENST00000376652.4	+	12	1222	c.1059C>T	c.(1057-1059)caC>caT	p.H353H	ENTPD6_ENST00000354989.5_Silent_p.H336H|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000360031.2_Silent_p.H352H|ENTPD6_ENST00000433259.2_Silent_p.H319H			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	353					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CAAGCCTGCACGAGCTGTGTG	0.587																																																0			20						C	,	0,4406		0,0,2203	137	113	121		1008,1059	-7.4	0	20		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ENTPD6	NM_001114089.1,NM_001247.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	336/468,353/485	25203487	1,13005	2203	4300	6503	25151487	SO:0001819	synonymous_variant	955			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1059C>T	20.37:g.25203487C>T			25151487	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.770|3.770	-0.047874|-0.047874	0.07407|0.07407	0.0|0.0	1.16E-4|1.16E-4	ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000433417;ENST00000447877	.|.	.|.	.|.	5.5|5.5	-7.45|-7.45	0.01374|0.01374	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40595	.|0.1123	.|.	.|.	.|.	0.23704|0.23704	N|N	0.997065|0.997065	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42682	.|-0.9437	.|4	.|.	.|.	.|.	-5.9311|-5.9311	15.7592|15.7592	0.78063|0.78063	0.0:0.2716:0.0:0.7284|0.0:0.2716:0.0:0.7284	.|.	.|.	.|.	.|.	X|M	177|274;212	.|.	.|.	R|T	+|+	1|2	2|0	ENTPD6|ENTPD6	25151487|25151487	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-2.298000|-2.298000	0.01140|0.01140	-1.271000|-1.271000	0.02430|0.02430	-1.406000|-1.406000	0.01132|0.01132	CGA|ACG		0.587	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			T	25203487	C	T	25203487	2	4	465	1	0	0	0	0	0	0	0	1	5143	535	19	1		1	ENTPD6	20	25203487	Silent	SNP	C	TCGA-61-2613-01A-01W-1092-09	20348866	25203487	37822033	70	25356											
ZNF335	63925	genome.wustl.edu	37	20	44588999	44588999	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr20:44588999C>T	ENST00000322927.2	-	14	1968	c.1868G>A	c.(1867-1869)tGt>tAt	p.C623Y	ZNF335_ENST00000426788.1_Missense_Mutation_p.C468Y	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	623					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACAGAACTCACACTTGAACCT	0.552																																																0			20											82	97	92					20																	44588999		2203	4300	6503	44022406	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1868G>A	20.37:g.44588999C>T	ENSP00000325326:p.Cys623Tyr		44022406	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743968	0.69418	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.58358	0.34;0.34	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.65763	-0.6089	10	0.87932	D	0	-14.8457	18.2884	0.90121	0.0:1.0:0.0:0.0	.	468;623	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	Y	623;400;468	ENSP00000325326:C623Y;ENSP00000397098:C468Y	ENSP00000243961:C400Y	C	-	2	0	ZNF335	44022406	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	7.302000	0.78861	2.808000	0.96608	0.650000	0.86243	TGT		0.552	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		T	44588999	C	T	44588999	3	4	465	1	0	0	0	0	1	0	0	0	17852	478	17	2	2220	2	ZNF335	20	44588999	Missense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09	19385512	44588999	18436521	71	25357											
NF2	4771	genome.wustl.edu	37	22	30061031	30061031	+	Nonsense_Mutation	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr22:30061031C>G	ENST00000338641.4	+	9	1304	c.863C>G	c.(862-864)tCa>tGa	p.S288*	NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Nonsense_Mutation_p.S205*|NF2_ENST00000347330.5_Nonsense_Mutation_p.S129*|NF2_ENST00000361452.4_Nonsense_Mutation_p.S247*|NF2_ENST00000397789.3_Nonsense_Mutation_p.S288*|NF2_ENST00000403435.1_Nonsense_Mutation_p.S288*|NF2_ENST00000403999.3_Nonsense_Mutation_p.S288*|NF2_ENST00000361166.4_Nonsense_Mutation_p.S288*|NF2_ENST00000361676.4_Nonsense_Mutation_p.S246*|NF2_ENST00000334961.7_Nonsense_Mutation_p.S205*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	288	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTTAACTCCTCAAAGCTTCGT	0.353			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	4	Unknown(3)|Deletion - In frame(1)	central_nervous_system(2)|large_intestine(1)|stomach(1)	22											117	107	111					22																	30061031		2203	4300	6503	28391031	SO:0001587	stop_gained	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.863C>G	22.37:g.30061031C>G	ENSP00000344666:p.Ser288*		28391031	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	c	40	8.251330	0.98727	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.8	5.8	0.92144	.	0.061259	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0872	0.97801	0.0:1.0:0.0:0.0	.	.	.	.	X	129;288;288;247;288;288;205;205;288;246;288	.	.	S	+	2	0	NF2	28391031	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.580000	0.82523	2.755000	0.94549	0.550000	0.68814	TCA		0.353	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		G	30061031	C	G	30061031	4	3	465	1	0	0	0	0	0	1	0	0	10357	838	29	3	897	3	NF2	22	30061031	Nonsense_Mutation	SNP	C	TCGA-61-2613-01A-01W-1092-09		30061031	21243535	72	25358											
CCDC120	90060	genome.wustl.edu	37	X	48921456	48921456	+	Missense_Mutation	SNP	G	G	T	rs150262550		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chrX:48921456G>T	ENST00000376396.3	+	5	467	c.248G>T	c.(247-249)cGc>cTc	p.R83L	CCDC120_ENST00000597275.1_Missense_Mutation_p.R83L|CCDC120_ENST00000422185.2_Missense_Mutation_p.R83L|CCDC120_ENST00000496529.2_Missense_Mutation_p.R83L|CCDC120_ENST00000603986.1_Missense_Mutation_p.R118L|CCDC120_ENST00000536628.2_Missense_Mutation_p.R71L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	83										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CAGTTGGTCCGCCGGCGGCCC	0.672																																																0			X											18	18	18					X																	48921456		2199	4290	6489	48808400	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.248G>T	X.37:g.48921456G>T	ENSP00000365577:p.Arg83Leu		48808400	B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699484	0.88830	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.6	4.6	0.57074	.	0.000000	0.52532	D	0.000076	T	0.76227	0.3958	M	0.65677	2.01	0.41678	D	0.989278	D;D;D;D	0.69078	0.994;0.997;0.997;0.994	D;D;D;D	0.81914	0.988;0.995;0.995;0.988	T	0.79794	-0.1653	9	0.87932	D	0	-5.5035	13.6095	0.62068	0.0:0.0:1.0:0.0	.	71;118;71;83	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	L	83;83;71	.	ENSP00000365577:R83L	R	+	2	0	CCDC120	48808400	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.590000	0.61013	1.892000	0.54788	0.468000	0.43344	CGC		0.672	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		T	48921456	G	T	48921456	3	4	465	1	0	0	0	0	1	0	0	0	2756	1087	38	3	258	3	CCDC120	23	48921456	Missense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09		48921456	106349104	73	25359											
GPR119	139760	genome.wustl.edu	37	X	129518824	129518824	+	Nonsense_Mutation	SNP	G	G	A	rs201745966		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chrX:129518824G>A	ENST00000276218.2	-	1	687	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	200					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TCCATCTTTCGAATCTGCTGG	0.542																																																0			X											95	77	83					X																	129518824		2203	4300	6503	129346505	SO:0001587	stop_gained	139760			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.598C>T	X.37:g.129518824G>A	ENSP00000276218:p.Arg200*		129346505	Q495H7|Q4VBN3	Nonsense_Mutation	SNP	ENST00000276218.2	37	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729655	0.89390	.	.	ENSG00000147262	ENST00000276218	.	.	.	5.15	3.28	0.37604	.	0.402975	0.25765	N	0.028452	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5551	9.8754	0.41200	0.0:0.1481:0.695:0.1569	.	.	.	.	X	200	.	ENSP00000276218:R200X	R	-	1	2	GPR119	129346505	0.991000	0.36638	0.967000	0.41034	0.874000	0.50279	2.081000	0.41596	0.494000	0.27859	0.600000	0.82982	CGA		0.542	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		A	129518824	G	A	129518824	4	1	465	1	0	0	0	0	0	1	0	0	6634	1066	37	1	413	1	GPR119	23	129518824	Nonsense_Mutation	SNP	G	TCGA-61-2613-01A-01W-1092-09	80597368	129518824	25751736	74	25360											
C1orf128	57095	genome.wustl.edu	37	1	24113792	24113792	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr1:24113792A>C	ENST00000246151.4	+	6	673	c.562A>C	c.(562-564)Aat>Cat	p.N188H	PITHD1_ENST00000374524.1_Missense_Mutation_p.N75H	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	188	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						GACCATCTGCAATTACGAAGC	0.527																																																0			1											95	85	89					1																	24113792		2203	4300	6503	23986379	SO:0001583	missense	57095				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"TXNL1 C-terminal like"		"chromosome 1 open reading frame 128"	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.562A>C	1.37:g.24113792A>C	ENSP00000246151:p.Asn188His		23986379	B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Missense_Mutation	SNP	ENST00000246151.4	37	CCDS240.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.576049	0.86645	.	.	ENSG00000057757	ENST00000246151;ENST00000374524	.	.	.	5.88	5.88	0.94601	Proteasome-interacting thioredoxin-like domain, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.76836	-0.2812	9	0.41790	T	0.15	-6.319	16.2997	0.82804	1.0:0.0:0.0:0.0	.	188	Q9GZP4	PITH1_HUMAN	H	188;75	.	ENSP00000246151:N188H	N	+	1	0	PITHD1	23986379	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.126000	0.94411	2.250000	0.74265	0.528000	0.53228	AAT		0.527	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008243.1	NM_020362		C	24113792	A	C	24113792	3	2	466	1	0	0	0	0	1	0	0	0	1995	130	5	5	584	5	C1orf128	1	24113792	Missense_Mutation	SNP	A	TCGA-61-2614-01A-01W-1092-09		24113792	225136829	1	25361											
TMEM57	55219	genome.wustl.edu	37	1	25773274	25773274	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr1:25773274C>A	ENST00000374343.4	+	2	281	c.102C>A	c.(100-102)ttC>ttA	p.F34L	TMEM57_ENST00000399766.3_Missense_Mutation_p.F34L|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	34					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGAAATTCCTGGTGGTGT	0.343																																																0			1											87	82	84					1																	25773274		2203	4300	6503	25645861	SO:0001583	missense	55219			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.102C>A	1.37:g.25773274C>A	ENSP00000363463:p.Phe34Leu		25645861	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.576922	0.65878	.	.	ENSG00000204178	ENST00000399766;ENST00000374343	D	0.83506	-1.73	5.87	2.83	0.33086	.	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	M	0.67953	2.075	0.80722	D	1	P;B	0.52577	0.954;0.246	D;B	0.66351	0.943;0.262	D	0.86825	0.2007	10	0.72032	D	0.01	-12.6148	10.3163	0.43738	0.0:0.7848:0.0:0.2152	.	34;34	Q8N5G2-3;Q8N5G2	.;MACOI_HUMAN	L	34	ENSP00000382668:F34L	ENSP00000363463:F34L	F	+	3	2	TMEM57	25645861	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.742000	0.55097	0.400000	0.25396	0.655000	0.94253	TTC		0.343	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		A	25773274	C	A	25773274	3	1	466	1	0	0	0	0	1	0	0	0	16184	854	30	3	108	3	TMEM57	1	25773274	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09	1659482	25773274	223477347	2	25362											
KCNA3	3738	genome.wustl.edu	37	1	111217106	111217106	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr1:111217106T>A	ENST00000369769.2	-	1	549	c.326A>T	c.(325-327)aAc>aTc	p.N109I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	109					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CCCGGAGATGTTGATGACCAC	0.716																																																0			1											26	31	29					1																	111217106		2200	4299	6499	111018629	SO:0001583	missense	3738			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.326A>T	1.37:g.111217106T>A	ENSP00000358784:p.Asn109Ile		111018629	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808989	0.70797	.	.	ENSG00000177272	ENST00000369769	D	0.85629	-2.01	4.33	4.33	0.51752	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	U	0.000000	D	0.94447	0.8213	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95885	0.8902	10	0.87932	D	0	.	12.4631	0.55743	0.0:0.0:0.0:1.0	.	109	P22001	KCNA3_HUMAN	I	109	ENSP00000358784:N109I	ENSP00000358784:N109I	N	-	2	0	KCNA3	111018629	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.827000	0.86722	1.584000	0.49913	0.379000	0.24179	AAC		0.716	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		A	111217106	T	A	111217106	3	1	466	1	0	0	0	0	1	0	0	0	8004	1725	60	5	1405	5	KCNA3	1	111217106	Missense_Mutation	SNP	T	TCGA-61-2614-01A-01W-1092-09	85443832	111217106	138033515	3	25363											
LCE1C	353133	genome.wustl.edu	37	1	152777810	152777810	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr1:152777810C>T	ENST00000607093.1	-	1	144	c.145G>A	c.(145-147)Gga>Aga	p.G49R	LCE1C_ENST00000368768.1_Missense_Mutation_p.G49R			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	49	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCAGCCTCCGGAGCTGACA	0.662																																																0			1											45	48	47					1																	152777810		2202	4297	6499	151044434	SO:0001583	missense	353133				CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.145G>A	1.37:g.152777810C>T	ENSP00000475270:p.Gly49Arg		151044434		Missense_Mutation	SNP	ENST00000607093.1	37	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	9.831	1.188300	0.21954	.	.	ENSG00000197084	ENST00000368768	T	0.05786	3.39	3.22	3.22	0.36961	.	0.000000	0.35838	N	0.002946	T	0.09774	0.0240	M	0.68952	2.095	0.26012	N	0.98197	D	0.67145	0.996	D	0.63113	0.911	T	0.01675	-1.1298	10	0.87932	D	0	.	10.0757	0.42360	0.0:1.0:0.0:0.0	.	49	Q5T751	LCE1C_HUMAN	R	49	ENSP00000357757:G49R	ENSP00000357757:G49R	G	-	1	0	LCE1C	151044434	0.908000	0.30866	0.880000	0.34516	0.793000	0.44817	2.954000	0.49113	1.802000	0.52723	0.655000	0.94253	GGA		0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		T	152777810	C	T	152777810	3	4	466	1	0	0	0	0	1	0	0	0	8661	661	23	1	215	1	LCE1C	1	152777810	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09	41560704	152777810	96472811	4	25364											
GATAD2B	57459	genome.wustl.edu	37	1	153800519	153800519	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr1:153800519T>C	ENST00000368655.4	-	2	548	c.305A>G	c.(304-306)gAt>gGt	p.D102G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	102					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGGCTCATCATTGATGTT	0.493																																																0			1											173	149	157					1																	153800519		2203	4300	6503	152067143	SO:0001583	missense	57459			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.305A>G	1.37:g.153800519T>C	ENSP00000357644:p.Asp102Gly		152067143	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.966218	0.92855	.	.	ENSG00000143614	ENST00000368655	T	0.50813	0.73	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	L	0.52573	1.65	0.80722	D	1	P	0.46784	0.884	B	0.43274	0.414	T	0.15838	-1.0423	10	0.38643	T	0.18	-21.6687	15.4208	0.75009	0.0:0.0:0.0:1.0	.	102	Q8WXI9	P66B_HUMAN	G	102	ENSP00000357644:D102G	ENSP00000357644:D102G	D	-	2	0	GATAD2B	152067143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.287000	0.76781	0.482000	0.46254	GAT		0.493	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		C	153800519	T	C	153800519	3	2	466	1	0	0	0	0	1	0	0	0	6261	1435	50	4	1516	4	GATAD2B	1	153800519	Missense_Mutation	SNP	T	TCGA-61-2614-01A-01W-1092-09	1022709	153800519	95450102	5	25365											
OR10K2	391107	genome.wustl.edu	37	1	158389843	158389843	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr1:158389843C>A	ENST00000314902.2	-	1	813	c.814G>T	c.(814-816)Gct>Tct	p.A272S		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GATATTAGAGCATCCTGGCTT	0.383																																																0			1											106	107	106					1																	158389843		2203	4300	6503	156656467	SO:0001583	missense	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.814G>T	1.37:g.158389843C>A	ENSP00000324251:p.Ala272Ser		156656467		Missense_Mutation	SNP	ENST00000314902.2	37	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	c	1.506	-0.550636	0.03996	.	.	ENSG00000180708	ENST00000314902	T	0.00123	8.7	4.23	0.144	0.14824	GPCR, rhodopsin-like superfamily (1);	0.503954	0.16555	N	0.209320	T	0.00039	0.0001	N	0.05554	-0.025	0.09310	N	1	B	0.17038	0.02	B	0.17098	0.017	T	0.40384	-0.9566	10	0.87932	D	0	.	4.1858	0.10397	0.0:0.3193:0.3226:0.3581	.	272	Q6IF99	O10K2_HUMAN	S	272	ENSP00000324251:A272S	ENSP00000324251:A272S	A	-	1	0	OR10K2	156656467	0.001000	0.12720	0.156000	0.22583	0.001000	0.01503	0.237000	0.17985	0.157000	0.19338	-0.930000	0.02707	GCT		0.383	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		A	158389843	C	A	158389843	3	1	466	1	0	0	0	0	1	0	0	0	10914	710	25	3	126	3	OR10K2	1	158389843	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09	4589324	158389843	90860778	6	25366											
DUSP12	11266	genome.wustl.edu	37	1	161719684	161719684	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr1:161719684G>C	ENST00000367943.4	+	1	125	c.93G>C	c.(91-93)caG>caC	p.Q31H		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	31					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGGAAGTGCAGCCAGGATTGT	0.672																																																0			1											21	25	23					1																	161719684		2202	4299	6501	159986308	SO:0001583	missense	11266			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.93G>C	1.37:g.161719684G>C	ENSP00000356920:p.Gln31His		159986308	Q5VXA8	Missense_Mutation	SNP	ENST00000367943.4	37	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	G	5.013	0.188144	0.09547	.	.	ENSG00000081721	ENST00000367943	T	0.60040	0.22	4.72	1.78	0.24846	Dual specificity phosphatase, subgroup, catalytic domain (2);	0.774714	0.12171	N	0.493025	T	0.18467	0.0443	N	0.19112	0.55	0.09310	N	0.999997	B	0.30439	0.279	B	0.30029	0.11	T	0.14924	-1.0455	10	0.44086	T	0.13	.	5.3968	0.16273	0.0944:0.0:0.5484:0.3572	.	31	Q9UNI6	DUS12_HUMAN	H	31	ENSP00000356920:Q31H	ENSP00000356920:Q31H	Q	+	3	2	DUSP12	159986308	1.000000	0.71417	0.063000	0.19743	0.000000	0.00434	2.289000	0.43523	0.209000	0.20645	-1.114000	0.02060	CAG		0.672	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		C	161719684	G	C	161719684	3	2	466	1	0	0	0	0	1	0	0	0	4812	962	34	3	95	3	DUSP12	1	161719684	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09	3329841	161719684	87530937	7	25367											
IRF6	3664	genome.wustl.edu	37	1	209974625	209974625	+	Missense_Mutation	SNP	C	C	G	rs121434229		TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr1:209974625C>G	ENST00000367021.3	-	3	306	c.134G>C	c.(133-135)cGg>cCg	p.R45P	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	45			R -> Q (in VWS1; dbSNP:rs121434229). {ECO:0000269|PubMed:14618417}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGGGCTATGCCGGGTGGCATG	0.468										HNSCC(57;0.16)																																						0			1	GRCh37	CM034818	IRF6	M	rs121434229						87	94	92					1																	209974625		2203	4300	6503	208041248	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.134G>C	1.37:g.209974625C>G	ENSP00000355988:p.Arg45Pro		208041248	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982735	0.93044	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.98400	-4.91;-4.91	6.17	6.17	0.99709	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.052273	0.85682	D	0.000000	D	0.99315	0.9760	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98914	1.0781	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	45	O14896	IRF6_HUMAN	P	45	ENSP00000355988:R45P;ENSP00000403855:R45P	.	R	-	2	0	IRF6	208041248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.311000	0.78958	2.941000	0.99782	0.655000	0.94253	CGG		0.468	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		G	209974625	C	G	209974625	3	3	466	1	0	0	0	0	1	0	0	0	7834	652	23	3	1297	3	IRF6	1	209974625	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09	48254941	209974625	39275996	8	25368											
RYR2	6262	genome.wustl.edu	37	1	237778047	237778047	+	Silent	SNP	A	A	G	rs373282364		TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr1:237778047A>G	ENST00000366574.2	+	37	5936	c.5619A>G	c.(5617-5619)gcA>gcG	p.A1873A	RYR2_ENST00000360064.6_Silent_p.A1871A|RYR2_ENST00000542537.1_Silent_p.A1857A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1873	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGACGATGCAAAGCTGCAAG	0.537																																																0			1						A		0,4094		0,0,2047	51	53	53		5619	-11.2	0	1		53	2,8364		0,2,4181	no	coding-synonymous	RYR2	NM_001035.2		0,2,6228	GG,GA,AA		0.0239,0.0,0.0161		1873/4968	237778047	2,12458	2047	4183	6230	235844670	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5619A>G	1.37:g.237778047A>G			235844670	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237778047	A	G	237778047	2	3	466	1	0	0	0	0	0	0	0	1	13772	117	5	4		4	RYR2	1	237778047	Silent	SNP	A	TCGA-61-2614-01A-01W-1092-09	27803422	237778047	11472574	9	25369											
COBLL1	22837	genome.wustl.edu	37	2	165600307	165600307	+	Silent	SNP	T	T	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr2:165600307T>C	ENST00000392717.2	-	3	238	c.234A>G	c.(232-234)gtA>gtG	p.V78V	COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Silent_p.V40V|COBLL1_ENST00000409184.3_Silent_p.V78V|COBLL1_ENST00000194871.6_Silent_p.V93V|COBLL1_ENST00000342193.4_Silent_p.V40V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	78						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAGTGGATTCTACAGAATCAG	0.393																																																0			2											110	105	107					2																	165600307		2203	4300	6503	165308553	SO:0001819	synonymous_variant	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.234A>G	2.37:g.165600307T>C			165308553	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	T	6.191	0.403374	0.11754	.	.	ENSG00000082438	ENST00000452626	.	.	.	6.17	5.03	0.67393	.	.	.	.	.	T	0.56001	0.1956	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55392	-0.8148	4	.	.	.	-3.9612	5.9297	0.19132	0.0:0.1301:0.1458:0.7241	.	.	.	.	G	43	.	.	R	-	1	2	COBLL1	165308553	0.665000	0.27466	0.821000	0.32701	0.471000	0.32888	0.313000	0.19415	2.371000	0.80710	0.533000	0.62120	AGA		0.393	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		C	165600307	T	C	165600307	2	2	466	1	0	0	0	0	0	0	0	1	3654	1509	53	4		4	COBLL1	2	165600307	Silent	SNP	T	TCGA-61-2614-01A-01W-1092-09		165600307	77599066	10	25370											
TTN	7273	genome.wustl.edu	37	2	179641161	179641161	+	Silent	SNP	C	C	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr2:179641161C>T	ENST00000591111.1	-	28	5654	c.5430G>A	c.(5428-5430)agG>agA	p.R1810R	TTN_ENST00000359218.5_Silent_p.R1764R|TTN_ENST00000460472.2_Silent_p.R1764R|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Silent_p.R1764R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Silent_p.R1810R|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R1810R|TTN_ENST00000360870.5_Silent_p.R1810R			Q8WZ42	TITIN_HUMAN	titin	12638					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAAGCCTTTCCTCCCCTCAG	0.413																																																0			2											123	126	125					2																	179641161		2203	4300	6503	179349406	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5430G>A	2.37:g.179641161C>T			179349406	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179641161	C	T	179641161	2	4	466	1	0	0	0	0	0	0	0	1	16735	854	30	2		2	TTN	2	179641161	Silent	SNP	C	TCGA-61-2614-01A-01W-1092-09	14040854	179641161	63558212	11	25371											
ALPP	250	genome.wustl.edu	37	2	233244520	233244520	+	Silent	SNP	G	G	A	rs559539627	byFrequency	TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr2:233244520G>A	ENST00000392027.2	+	5	800	c.531G>A	c.(529-531)tcG>tcA	p.S177S	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	177					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGCACGCCTCGCCAGCCGGCA	0.642													g|||	3	0.000599042	0	0	5008	,	,		17252	0.003		0	False		,,,				2504	0															0			2											60	59	59					2																	233244520		2203	4300	6503	232952764	SO:0001819	synonymous_variant	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.531G>A	2.37:g.233244520G>A			232952764	P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	CCDS2490.1																																																																																				0.642	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		A	233244520	G	A	233244520	2	1	466	1	0	0	0	0	0	0	0	1	548	1074	38	1		1	ALPP	2	233244520	Silent	SNP	G	TCGA-61-2614-01A-01W-1092-09	53603359	233244520	9954853	12	25372											
GYG1	2992	genome.wustl.edu	37	3	148744621	148744621	+	Silent	SNP	G	G	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr3:148744621G>C	ENST00000345003.4	+	8	1254	c.954G>C	c.(952-954)tcG>tcC	p.S318S	GYG1_ENST00000484197.1_Missense_Mutation_p.R228P|GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000296048.6_Silent_p.S301S	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	318	Interaction with GYS1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGTATCCTCGGAAGAACGGA	0.478																																																0			3											90	91	91					3																	148744621		2203	4300	6503	150227311	SO:0001819	synonymous_variant	2992			AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4699	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	603942	"glycogenin"	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.954G>C	3.37:g.148744621G>C			150227311	D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Silent	SNP	ENST00000345003.4	37	CCDS3139.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482147	0.44147	.	.	ENSG00000163754	ENST00000484197	T	0.78246	-1.16	5.55	-1.08	0.09936	.	.	.	.	.	T	0.61198	0.2328	.	.	.	0.22827	N	0.998683	B	0.34061	0.436	B	0.37780	0.258	T	0.50524	-0.8818	8	0.28530	T	0.3	-17.1313	1.7225	0.02915	0.534:0.1288:0.2134:0.1239	.	228	D3DNH0	.	P	228	ENSP00000420683:R228P	ENSP00000420683:R228P	R	+	2	0	GYG1	150227311	0.999000	0.42202	0.997000	0.53966	0.982000	0.71751	0.860000	0.27871	-0.170000	0.10816	-0.302000	0.09304	CGG		0.478	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		C	148744621	G	C	148744621	2	2	466	1	0	0	0	0	0	0	0	1	6905	1116	39	3		3	GYG1	3	148744621	Silent	SNP	G	TCGA-61-2614-01A-01W-1092-09		148744621	49277809	13	25373											
WDR49	151790	genome.wustl.edu	37	3	167293809	167293809	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr3:167293809T>C	ENST00000308378.3	-	4	688	c.383A>G	c.(382-384)aAt>aGt	p.N128S	WDR49_ENST00000476376.1_5'Flank|WDR49_ENST00000479765.1_Missense_Mutation_p.N469S|WDR49_ENST00000453925.2_Missense_Mutation_p.N181S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	128										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TAGCTGGTTATTAAACGAGAT	0.428																																																0			3											165	163	164					3																	167293809		2203	4300	6503	168776503	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.383A>G	3.37:g.167293809T>C	ENSP00000311343:p.Asn128Ser		168776503	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.17|12.17	1.858988|1.858988	0.32884|0.32884	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000479765;ENST00000453925	.|T;T;T	.|0.51071	.|0.72;1.95;1.15	5.76|5.76	4.6|4.6	0.57074|0.57074	.|WD40-repeat-containing domain (1);	.|0.477788	.|0.24098	.|N	.|0.041578	T|T	0.55273|0.55273	0.1910|0.1910	L|L	0.56769|0.56769	1.78|1.78	0.26051|0.26051	N|N	0.981478|0.981478	.|P;P;D	.|0.62365	.|0.911;0.911;0.991	.|P;P;P	.|0.57101	.|0.609;0.609;0.813	T|T	0.49624|0.49624	-0.8920|-0.8920	5|10	.|0.45353	.|T	.|0.12	.|.	8.5687|8.5687	0.33556|0.33556	0.0:0.1536:0.0:0.8464|0.0:0.1536:0.0:0.8464	.|.	.|181;469;128	.|E7EQK3;E9PDB0;Q8IV35	.|.;.;WDR49_HUMAN	V|S	193|128;469;181	.|ENSP00000311343:N128S;ENSP00000419749:N469S;ENSP00000410863:N181S	.|ENSP00000311343:N128S	I|N	-|-	1|2	0|0	WDR49|WDR49	168776503|168776503	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.470000|0.470000	0.32858|0.32858	1.970000|1.970000	0.40520|0.40520	1.026000|1.026000	0.39733|0.39733	0.529000|0.529000	0.55759|0.55759	ATA|AAT		0.428	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		C	167293809	T	C	167293809	3	2	466	1	0	0	0	0	1	0	0	0	17302	1493	52	4	1758	4	WDR49	3	167293809	Missense_Mutation	SNP	T	TCGA-61-2614-01A-01W-1092-09	18549188	167293809	30728621	14	25374											
KLB	152831	genome.wustl.edu	37	4	39439523	39439523	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr4:39439523G>T	ENST00000257408.4	+	3	1610	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	505	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GATCATACGAGAAAATGGTTT	0.428																																																0			4											114	106	109					4																	39439523		2203	4300	6503	39115918	SO:0001587	stop_gained	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1513G>T	4.37:g.39439523G>T	ENSP00000257408:p.Glu505*		39115918	Q2M3K8	Nonsense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	37	6.387208	0.97524	.	.	ENSG00000134962	ENST00000257408	.	.	.	6.03	6.03	0.97812	.	0.374480	0.32343	N	0.006235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-12.1761	15.973	0.80034	0.0:0.1339:0.8661:0.0	.	.	.	.	X	505	.	ENSP00000257408:E505X	E	+	1	0	KLB	39115918	0.998000	0.40836	0.995000	0.50966	0.778000	0.44026	2.741000	0.47426	2.861000	0.98227	0.655000	0.94253	GAA		0.428	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		T	39439523	G	T	39439523	4	4	466	1	0	0	0	0	0	1	0	0	8332	943	33	3	1523	3	KLB	4	39439523	Nonsense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09		39439523	151714753	15	25375											
IQGAP2	10788	genome.wustl.edu	37	5	75932999	75932999	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr5:75932999G>C	ENST00000274364.6	+	16	2218	c.1921G>C	c.(1921-1923)Gag>Cag	p.E641Q	IQGAP2_ENST00000502745.1_Missense_Mutation_p.E194Q|IQGAP2_ENST00000396234.3_Missense_Mutation_p.E194Q|IQGAP2_ENST00000379730.3_Missense_Mutation_p.E200Q	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	641					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAAAGAAATCGAGGTAGGAGG	0.363																																																0			5											94	93	94					5																	75932999		2203	4300	6503	75968755	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1921G>C	5.37:g.75932999G>C	ENSP00000274364:p.Glu641Gln		75968755	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	1.402	-0.577759	0.03854	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.71461	1.11;-0.57;1.11;1.11;1.11;-0.57;-0.57	5.72	2.48	0.30137	.	0.170711	0.52532	D	0.000065	T	0.40398	0.1115	N	0.05574	-0.02	0.25472	N	0.987818	B;B;B;B	0.09022	0.002;0.001;0.002;0.001	B;B;B;B	0.14023	0.01;0.002;0.01;0.005	T	0.31024	-0.9958	10	0.02654	T	1	-20.2684	6.1727	0.20427	0.1891:0.1598:0.6511:0.0	.	200;591;194;641	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	Q	641;200;614;591;194;194;194;194	ENSP00000274364:E641Q;ENSP00000442313:E200Q;ENSP00000423672:E614Q;ENSP00000421097:E591Q;ENSP00000422661:E194Q;ENSP00000379535:E194Q;ENSP00000426027:E194Q	ENSP00000274364:E641Q	E	+	1	0	IQGAP2	75968755	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	0.814000	0.27239	0.748000	0.32831	0.585000	0.79938	GAG		0.363	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		C	75932999	G	C	75932999	3	2	466	1	0	0	0	0	1	0	0	0	7815	1059	37	3	1983	3	IQGAP2	5	75932999	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09		75932999	104982261	16	25376											
ADAMTS19	171019	genome.wustl.edu	37	5	128864285	128864285	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr5:128864285G>A	ENST00000274487.4	+	6	1370	c.1225G>A	c.(1225-1227)Ggc>Agc	p.G409S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	409	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGAAGAATTTGGCAAAAAGAA	0.373																																																0			5											89	93	92					5																	128864285		2203	4300	6503	128892184	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1225G>A	5.37:g.128864285G>A	ENSP00000274487:p.Gly409Ser		128892184		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054226	0.75960	.	.	ENSG00000145808	ENST00000274487	D	0.86627	-2.15	4.02	4.02	0.46733	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000004	D	0.90546	0.7037	L	0.43923	1.385	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.89503	0.3765	9	.	.	.	.	17.5154	0.87771	0.0:0.0:1.0:0.0	.	409	Q8TE59	ATS19_HUMAN	S	409	ENSP00000274487:G409S	.	G	+	1	0	ADAMTS19	128892184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.077000	0.76814	2.530000	0.85305	0.650000	0.86243	GGC		0.373	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		A	128864285	G	A	128864285	3	1	466	1	0	0	0	0	1	0	0	0	264	1348	47	2	1247	2	ADAMTS19	5	128864285	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09	52931286	128864285	52050975	17	25377											
SCAND3	114821	genome.wustl.edu	37	6	28542983	28542983	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr6:28542983C>G	ENST00000452236.2	-	3	2116	c.1499G>C	c.(1498-1500)tGg>tCg	p.W500S	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTGAATGAACCACAAAAATTC	0.438																																																0			6											131	130	130					6																	28542983		2203	4300	6503	28650962	SO:0001583	missense	114821																														ENST00000452236.2:c.1499G>C	6.37:g.28542983C>G	ENSP00000395259:p.Trp500Ser		28650962		Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390209	0.42410	.	.	ENSG00000232040	ENST00000452236	T	0.39406	1.08	3.28	3.28	0.37604	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.39036	0.1063	L	0.36672	1.1	0.45056	D	0.998079	D	0.64830	0.994	D	0.76071	0.987	T	0.14420	-1.0473	9	0.36615	T	0.2	.	10.2107	0.43138	0.0:1.0:0.0:0.0	.	500	Q6R2W3	SCND3_HUMAN	S	500	ENSP00000395259:W500S	ENSP00000395259:W500S	W	-	2	0	SCAND3	28650962	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	1.675000	0.37555	1.841000	0.53522	0.462000	0.41574	TGG		0.438	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			G	28542983	C	G	28542983	3	3	466	1	0	0	0	0	1	0	0	0	13879	595	21	3	2486	3	SCAND3	6	28542983	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09		28542983	142572084	18	25378											
SLC26A8	116369	genome.wustl.edu	37	6	35927255	35927255	+	Silent	SNP	A	A	G			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr6:35927255A>G	ENST00000490799.1	-	16	2198	c.1845T>C	c.(1843-1845)gaT>gaC	p.D615D	SLC26A8_ENST00000355574.2_Silent_p.D615D|SLC26A8_ENST00000394602.2_Silent_p.D510D	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCGGCTCCAGATCATCACAGT	0.358																																																0			6											79	84	82					6																	35927255		2201	4300	6501	36035233	SO:0001819	synonymous_variant	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1845T>C	6.37:g.35927255A>G			36035233		Silent	SNP	ENST00000490799.1	37	CCDS4813.1																																																																																				0.358	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			G	35927255	A	G	35927255	2	3	466	1	0	0	0	0	0	0	0	1	14526	330	12	4		4	SLC26A8	6	35927255	Silent	SNP	A	TCGA-61-2614-01A-01W-1092-09	7384272	35927255	135187812	19	25379											
GHRHR	2692	genome.wustl.edu	37	7	31016901	31016901	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr7:31016901C>A	ENST00000326139.2	+	12	1156	c.1110C>A	c.(1108-1110)ttC>ttA	p.F370L	GHRHR_ENST00000409316.1_Missense_Mutation_p.H137N|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Missense_Mutation_p.F306L	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	370					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CACAGGGCTTCATTGTTGCCA	0.542																																																0			7											219	192	201					7																	31016901		2203	4300	6503	30983426	SO:0001583	missense	2692				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1110C>A	7.37:g.31016901C>A	ENSP00000320180:p.Phe370Leu		30983426	Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	CCDS5432.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.787|6.787	0.514227|0.514227	0.12944|0.12944	.|.	.|.	ENSG00000106128|ENSG00000106128	ENST00000326139;ENST00000409904|ENST00000409233;ENST00000409316	T;T|.	0.47177|.	0.85;0.85|.	5.25|5.25	3.43|3.43	0.39272|0.39272	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);|.	.|.	.|.	.|.	.|.	T|T	0.28499|0.28499	0.0705|0.0705	N|N	0.05574|0.05574	-0.02|-0.02	0.80722|0.80722	D|D	1|1	B;B|P	0.23316|0.37276	0.083;0.083|0.589	B;B|B	0.28916|0.39027	0.096;0.036|0.288	T|T	0.12243|0.12243	-1.0555|-1.0555	9|8	0.32370|0.87932	T|D	0.25|0	.|.	8.4542|8.4542	0.32888|0.32888	0.0:0.8214:0.0:0.1786|0.0:0.8214:0.0:0.1786	.|.	306;370|137	Q9HB45;Q02643|Q9HB43	.;GHRHR_HUMAN|.	L|N	370;306|158;137	ENSP00000320180:F370L;ENSP00000387113:F306L|.	ENSP00000320180:F370L|ENSP00000386919:H158N	F|H	+|+	3|1	2|0	GHRHR|GHRHR	30983426|30983426	0.854000|0.854000	0.29725|0.29725	0.918000|0.918000	0.36340|0.36340	0.270000|0.270000	0.26580|0.26580	0.450000|0.450000	0.21762|0.21762	0.601000|0.601000	0.29879|0.29879	0.645000|0.645000	0.84053|0.84053	TTC|CAT		0.542	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			A	31016901	C	A	31016901	3	1	466	1	0	0	0	0	1	0	0	0	6373	825	29	3	1196	3	GHRHR	7	31016901	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09		31016901	128121762	20	25380											
CLIP2	7461	genome.wustl.edu	37	7	73752998	73752998	+	Silent	SNP	C	C	T	rs201025665		TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr7:73752998C>T	ENST00000395060.1	+	2	342	c.342C>T	c.(340-342)gaC>gaT	p.D114D	CLIP2_ENST00000223398.6_Silent_p.D114D|CLIP2_ENST00000361545.5_Silent_p.D114D			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	114	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGTGCTGGACGACCCGGTGG	0.692													C|||	1	0.000199681	0	0	5008	,	,		14586	0.001		0	False		,,,				2504	0															0			7											54	42	46					7																	73752998		2189	4289	6478	73390934	SO:0001819	synonymous_variant	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.342C>T	7.37:g.73752998C>T			73390934	O14527|O43611	Silent	SNP	ENST00000395060.1	37	CCDS5569.1																																																																																				0.692	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		T	73752998	C	T	73752998	2	4	466	1	0	0	0	0	0	0	0	1	3533	535	19	1		1	CLIP2	7	73752998	Silent	SNP	C	TCGA-61-2614-01A-01W-1092-09	42736097	73752998	85385665	21	25381											
DBF4	10926	genome.wustl.edu	37	7	87537203	87537203	+	Nonsense_Mutation	SNP	C	C	T	rs144858770		TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr7:87537203C>T	ENST00000265728.1	+	12	2254	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	584				R -> Q (in Ref. 6; EAL24170). {ECO:0000305}.	DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AATATTAGGACGAAATAGAAA	0.328																																																0			7						C	stop/ARG	0,4404		0,0,2202	44	50	48		1750	0.3	1	7	dbSNP_134	48	1,8557		0,1,4278	no	stop-gained	DBF4	NM_006716.3		0,1,6480	TT,TC,CC		0.0117,0.0,0.0077		584/675	87537203	1,12961	2202	4279	6481	87375139	SO:0001587	stop_gained	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1750C>T	7.37:g.87537203C>T	ENSP00000265728:p.Arg584*		87375139	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Nonsense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	C	40	8.292962	0.98747	0.0	1.17E-4	ENSG00000006634	ENST00000265728	.	.	.	5.13	0.274	0.15654	.	0.113799	0.38897	N	0.001539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3952	15.3419	0.74303	0.7422:0.2578:0.0:0.0	.	.	.	.	X	584	.	ENSP00000265728:R584X	R	+	1	2	DBF4	87375139	1.000000	0.71417	0.980000	0.43619	0.971000	0.66376	0.947000	0.29082	-0.483000	0.06772	-0.824000	0.03097	CGA		0.328	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		T	87537203	C	T	87537203	4	4	466	1	0	0	0	0	0	1	0	0	4248	528	19	1	1796	1	DBF4	7	87537203	Nonsense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09	13784205	87537203	71601460	22	25382											
ASB4	51666	genome.wustl.edu	37	7	95115411	95115411	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr7:95115411A>G	ENST00000325885.5	+	1	199	c.128A>G	c.(127-129)gAt>gGt	p.D43G	ASB4_ENST00000428113.1_Missense_Mutation_p.D43G|ASB4_ENST00000257621.4_Intron	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	43					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AGGCAAATAGATGTGGACACT	0.353																																																0			7											97	99	98					7																	95115411		2203	4300	6503	94953347	SO:0001583	missense	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.128A>G	7.37:g.95115411A>G	ENSP00000321388:p.Asp43Gly		94953347	A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298735	0.81025	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.54675	0.56;0.56	5.2	5.2	0.72013	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.972;1.0	P;D	0.91635	0.696;0.999	T	0.62115	-0.6922	10	0.46703	T	0.11	-22.5375	15.5488	0.76129	1.0:0.0:0.0:0.0	.	43;43	Q9Y574;Q14D68	ASB4_HUMAN;.	G	43	ENSP00000321388:D43G;ENSP00000397070:D43G	ENSP00000321388:D43G	D	+	2	0	ASB4	94953347	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.978000	0.88095	2.324000	0.78689	0.533000	0.62120	GAT		0.353	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		G	95115411	A	G	95115411	3	3	466	1	0	0	0	0	1	0	0	0	1025	333	12	4	130	4	ASB4	7	95115411	Missense_Mutation	SNP	A	TCGA-61-2614-01A-01W-1092-09	7578208	95115411	64023252	23	25383											
KIAA2026	158358	genome.wustl.edu	37	9	5921844	5921844	+	Missense_Mutation	SNP	G	G	T	rs117286418	byFrequency	TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr9:5921844G>T	ENST00000399933.3	-	8	4151	c.4152C>A	c.(4150-4152)caC>caA	p.H1384Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.H1354Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1384	Ser-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TATCTATCACGTGGCCCAAAT	0.443													G|||	167	0.0333466	0.0053	0.0461	5008	,	,		21842	0.001		0.0974	False		,,,				2504	0.0297															0			9						G	GLN/HIS	78,3690		0,78,1806	156	150	152		4152	-0.7	0.5	9	dbSNP_132	152	936,7296		52,832,3232	yes	missense	KIAA2026	NM_001017969.2	24	52,910,5038	TT,TG,GG		11.3703,2.0701,8.45	benign	1384/2104	5921844	1014,10986	1884	4116	6000	5911844	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4152C>A	9.37:g.5921844G>T	ENSP00000382815:p.His1384Gln		5911844	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		115	0.052655677655677656	4	0.008130081300813009	23	0.06353591160220995	1	0.0017482517482517483	87	0.11477572559366754	G	0.015	-1.559182	0.00910	0.020701	0.113703	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.08	-0.703	0.11261	.	0.243817	0.28612	N	0.014739	T	0.00241	0.0007	N	0.14661	0.345	0.58432	P	1.999999999946489E-6	B	0.10296	0.003	B	0.06405	0.002	T	0.12192	-1.0557	8	0.06494	T	0.89	-3.0597	0.5155	0.00602	0.353:0.123:0.2814:0.2426	.	1384	Q5HYC2	K2026_HUMAN	Q	1384;1354	.	ENSP00000370870:H1354Q	H	-	3	2	KIAA2026	5911844	0.955000	0.32602	0.463000	0.27130	0.627000	0.37826	0.235000	0.17948	0.026000	0.15269	0.484000	0.47621	CAC		0.443	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		T	5921844	G	T	5921844	3	4	466	1	0	0	0	0	1	0	0	0	8270	1136	40	3	2163	3	KIAA2026	9	5921844	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09		5921844	135291587	24	25384											
CEL	1056	genome.wustl.edu	37	9	135939856	135939856	+	Silent	SNP	T	T	C	rs543591885		TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr9:135939856T>C	ENST00000372080.4	+	2	157	c.141T>C	c.(139-141)ggT>ggC	p.G47G	CEL_ENST00000351304.7_Silent_p.G44G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	44	Heparin-binding.				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCTCCTGGGTGACTCTGTGG	0.627																																																0			9											89	102	98					9																	135939856		2066	4199	6265	134929677	SO:0001819	synonymous_variant	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.141T>C	9.37:g.135939856T>C			134929677	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	CCDS43896.1																																																																																				0.627	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			C	135939856	T	C	135939856	2	2	466	1	0	0	0	0	0	0	0	1	3209	1683	59	4		4	CEL	9	135939856	Silent	SNP	T	TCGA-61-2614-01A-01W-1092-09	130018012	135939856	5273575	25	25385											
ELOVL3	83401	genome.wustl.edu	37	10	103988238	103988238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr10:103988238C>T	ENST00000370005.3	+	3	519	c.298C>T	c.(298-300)Caa>Taa	p.Q100*		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	100					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		GGGCCTAAAGCAAACCGTGTG	0.488																																																0			10											124	118	120					10																	103988238		2203	4300	6503	103978228	SO:0001587	stop_gained	83401			AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.298C>T	10.37:g.103988238C>T	ENSP00000359022:p.Gln100*		103978228	Q5VZL3|Q8N180	Nonsense_Mutation	SNP	ENST00000370005.3	37	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442716	0.83993	.	.	ENSG00000119915	ENST00000370005	.	.	.	4.67	2.54	0.30619	.	0.664870	0.13936	N	0.352529	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-20.755	13.5915	0.61964	0.2922:0.7078:0.0:0.0	.	.	.	.	X	100	.	ENSP00000359022:Q100X	Q	+	1	0	ELOVL3	103978228	0.993000	0.37304	0.513000	0.27749	0.256000	0.26092	1.945000	0.40273	0.940000	0.37473	0.561000	0.74099	CAA		0.488	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		T	103988238	C	T	103988238	4	4	466	1	0	0	0	0	0	1	0	0	5075	711	25	2	308	2	ELOVL3	10	103988238	Nonsense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09		103988238	31546509	26	25386											
SEC23IP	11196	genome.wustl.edu	37	10	121677386	121677386	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr10:121677386T>A	ENST00000369075.3	+	9	1655	c.1583T>A	c.(1582-1584)tTt>tAt	p.F528Y	SEC23IP_ENST00000543134.1_Missense_Mutation_p.F317Y	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	528					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATTGGTCGATTTCGTCACTTT	0.318																																																0			10											50	52	51					10																	121677386		2203	4300	6503	121667376	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1583T>A	10.37:g.121677386T>A	ENSP00000358071:p.Phe528Tyr		121667376	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033735	0.75504	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.41758	0.99;0.99	5.32	5.32	0.75619	.	0.058622	0.64402	D	0.000001	T	0.33760	0.0874	N	0.25485	0.75	0.36730	D	0.881689	P;P	0.40794	0.666;0.729	B;B	0.38616	0.277;0.112	T	0.48364	-0.9042	10	0.87932	D	0	-24.1862	15.5763	0.76392	0.0:0.0:0.0:1.0	.	317;528	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	Y	528;317	ENSP00000358071:F528Y;ENSP00000438773:F317Y	ENSP00000358071:F528Y	F	+	2	0	SEC23IP	121667376	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.139000	0.66308	0.533000	0.62120	TTT		0.318	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			A	121677386	T	A	121677386	3	1	466	1	0	0	0	0	1	0	0	0	13996	1841	64	5	1617	5	SEC23IP	10	121677386	Missense_Mutation	SNP	T	TCGA-61-2614-01A-01W-1092-09	17689148	121677386	13857361	27	25387											
PACSIN3	29763	genome.wustl.edu	37	11	47201085	47201085	+	Missense_Mutation	SNP	C	C	T	rs549826440		TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr11:47201085C>T	ENST00000539589.1	-	7	998	c.656G>A	c.(655-657)cGc>cAc	p.R219H	ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.R219H|ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	219	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CTCCATGTAGCGTGGAGTGTA	0.582											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		20095	0		0	False		,,,				2504	0.001															0			11											78	84	82					11																	47201085		2201	4298	6499	47157661	SO:0001583	missense	29763			AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.656G>A	11.37:g.47201085C>T	ENSP00000440945:p.Arg219His	945	47157661	A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	CCDS31481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.688545|4.688545	0.88639|0.88639	.|.	.|.	ENSG00000165912|ENSG00000165912	ENST00000415232|ENST00000298838;ENST00000539589;ENST00000528462	.|T;T;T	.|0.45276	.|0.9;0.9;0.9	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62624|0.62624	0.2443|0.2443	M|M	0.78637|0.78637	2.42|2.42	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.69078	.|0.997	.|D	.|0.67382	.|0.951	T|T	0.65092|0.65092	-0.6252|-0.6252	6|10	0.15066|0.54805	T|T	0.55|0.06	-18.2848|-18.2848	12.5167|12.5167	0.56036|0.56036	0.0:0.9237:0.0:0.0763|0.0:0.9237:0.0:0.0763	.|.	.|219	.|Q9UKS6	.|PACN3_HUMAN	T|H	218|219	.|ENSP00000298838:R219H;ENSP00000440945:R219H;ENSP00000437252:R219H	ENSP00000405352:A218T|ENSP00000298838:R219H	A|R	-|-	1|2	0|0	PACSIN3|PACSIN3	47157661|47157661	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.948000|4.948000	0.63590|0.63590	2.537000|2.537000	0.85549|0.85549	0.561000|0.561000	0.74099|0.74099	GCT|CGC		0.582	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		T	47201085	C	T	47201085	3	4	466	1	0	0	0	0	1	0	0	0	11376	768	27	1	638	1	PACSIN3	11	47201085	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09		47201085	87805431	28	25388											
FZD4	8322	genome.wustl.edu	37	11	86662305	86662305	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr11:86662305G>C	ENST00000531380.1	-	2	1798	c.1493C>G	c.(1492-1494)gCc>gGc	p.A498G	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_Missense_Mutation_p.G85A	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	498					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGAGTTTTGGCAGACCAAAT	0.423																																																0			11											112	110	111					11																	86662305		2201	4299	6500	86339953	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1493C>G	11.37:g.86662305G>C	ENSP00000434034:p.Ala498Gly		86339953	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	CCDS8279.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.30|11.30	1.599356|1.599356	0.28534|0.28534	.|.	.|.	ENSG00000174804|ENSG00000150687	ENST00000531380|ENST00000533902	D|.	0.81579|.	-1.51|.	6.17|6.17	6.17|6.17	0.99709|0.99709	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33059|0.33059	0.0850|0.0850	N|N	0.01417|0.01417	-0.88|-0.88	0.80722|0.80722	D|D	1|1	B|.	0.18013|.	0.025|.	B|.	0.25140|.	0.058|.	T|T	0.38222|0.38222	-0.9671|-0.9671	9|5	.|.	.|.	.|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	498|.	Q9ULV1|.	FZD4_HUMAN|.	G|A	498|85	ENSP00000434034:A498G|.	.|.	A|G	-|+	2|2	0|0	FZD4|PRSS23	86339953|86339953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.800000|7.800000	0.85949|0.85949	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.423	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		C	86662305	G	C	86662305	3	2	466	1	0	0	0	0	1	0	0	0	6132	1203	42	3	124	3	FZD4	11	86662305	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09	39461220	86662305	48344211	29	25389											
CD163	9332	genome.wustl.edu	37	12	7640434	7640434	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr12:7640434C>T	ENST00000359156.4	-	7	1872	c.1670G>A	c.(1669-1671)tGc>tAc	p.C557Y	CD163_ENST00000432237.2_Missense_Mutation_p.C557Y|CD163_ENST00000541972.1_Missense_Mutation_p.C545Y|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.C557Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	557	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGCTACTGGGCAGAGTGAAAG	0.502																																																0			12											102	96	98					12																	7640434		2203	4300	6503	7531701	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1670G>A	12.37:g.7640434C>T	ENSP00000352071:p.Cys557Tyr		7531701	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704928	0.68615	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.33	5.33	0.75918	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.98485	0.9495	H	0.98446	4.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99568	1.0970	10	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	557;557;557	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	557;545;557;557	ENSP00000352071:C557Y;ENSP00000444071:C545Y;ENSP00000379863:C557Y;ENSP00000403885:C557Y	ENSP00000352071:C557Y	C	-	2	0	CD163	7531701	1.000000	0.71417	0.978000	0.43139	0.644000	0.38419	7.239000	0.78182	2.663000	0.90544	0.655000	0.94253	TGC		0.502	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		T	7640434	C	T	7640434	3	4	466	1	0	0	0	0	1	0	0	0	2967	710	25	2	1840	2	CD163	12	7640434	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09		7640434	126211461	30	25390											
GPRC5A	9052	genome.wustl.edu	37	12	13061825	13061825	+	Silent	SNP	C	C	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr12:13061825C>T	ENST00000014914.5	+	2	1532	c.642C>T	c.(640-642)taC>taT	p.Y214Y	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	214					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCCACATCTACCTCACGATGC	0.572																																																0			12											216	190	199					12																	13061825		2203	4300	6503	12953092	SO:0001819	synonymous_variant	9052			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"GPCR / Class C : Orphans"	9836	protein-coding gene	gene with protein product		604138	"retinoic acid induced 3", "G protein-coupled receptor, family C, group 5, member A"	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.642C>T	12.37:g.13061825C>T			12953092	B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	CCDS8657.1																																																																																				0.572	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			T	13061825	C	T	13061825	2	4	466	1	0	0	0	0	0	0	0	1	6724	518	18	2		2	GPRC5A	12	13061825	Silent	SNP	C	TCGA-61-2614-01A-01W-1092-09	5421391	13061825	120790070	31	25391											
E2F7	144455	genome.wustl.edu	37	12	77423726	77423726	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr12:77423726G>A	ENST00000322886.7	-	10	2004	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	E2F7_ENST00000416496.2_Missense_Mutation_p.P590L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	590					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGAGCTGAGGGTGCAGATGA	0.572																																																0			12											100	91	94					12																	77423726		2203	4300	6503	75947857	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1769C>T	12.37:g.77423726G>A	ENSP00000323246:p.Pro590Leu		75947857	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325212	0.24080	.	.	ENSG00000165891	ENST00000322886;ENST00000339887;ENST00000416496;ENST00000550669	T;T;T	0.20069	2.28;2.1;2.11	5.69	2.81	0.32909	.	0.932856	0.09197	N	0.835175	T	0.19287	0.0463	L	0.60455	1.87	0.09310	N	0.999997	B;B	0.14438	0.01;0.001	B;B	0.14023	0.01;0.001	T	0.38908	-0.9639	10	0.49607	T	0.09	-0.8601	1.4878	0.02451	0.2558:0.1421:0.4559:0.1462	.	590;590	Q96AV8-2;Q96AV8	.;E2F7_HUMAN	L	590;77;590;590	ENSP00000323246:P590L;ENSP00000393639:P590L;ENSP00000448245:P590L	ENSP00000323246:P590L	P	-	2	0	E2F7	75947857	0.311000	0.24536	0.001000	0.08648	0.011000	0.07611	1.368000	0.34216	0.302000	0.22762	-0.136000	0.14681	CCC		0.572	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		A	77423726	G	A	77423726	3	1	466	1	0	0	0	0	1	0	0	0	4872	1232	43	2	982	2	E2F7	12	77423726	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09	64361901	77423726	56428169	32	25392											
CLIP1	6249	genome.wustl.edu	37	12	122839860	122839860	+	Splice_Site	SNP	C	C	G			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr12:122839860C>G	ENST00000540338.1	-	5	1047		c.e5-1		CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000358808.2_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTCAGTCAACTGTAAAGGAA	0.567																																																0			12											43	41	42					12																	122839860		2203	4300	6503	121405813	SO:0001630	splice_region_variant	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1006-1G>C	12.37:g.122839860C>G			121405813	A0AVD3|Q17RS4|Q29RG0	Splice_Site	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538963	0.85917	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1007	0.93272	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIP1	121405813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.504000	0.84457	0.655000	0.94253	.		0.567	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	Intron	G	122839860	C	G	122839860	5	3	466	1	0	0	0	0	0	0	1	0	3532	579	20	3	3358	3	CLIP1	12	122839860	Splice_Site	SNP	C	TCGA-61-2614-01A-01W-1092-09	45416134	122839860	11012035	33	25393											
LIG4	3981	genome.wustl.edu	37	13	108861672	108861672	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr13:108861672G>A	ENST00000356922.4	-	2	2217	c.1945C>T	c.(1945-1947)Ctt>Ttt	p.L649F	LIG4_ENST00000405925.1_Missense_Mutation_p.L649F|LIG4_ENST00000442234.1_Missense_Mutation_p.L649F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	649					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACGTTAGTAAGGTTAGGTGCT	0.363								Non-homologous end-joining																																								0			13											72	72	72					13																	108861672		2202	4300	6502	107659673	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1945C>T	13.37:g.108861672G>A	ENSP00000349393:p.Leu649Phe		107659673	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596581	0.28445	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.12255	2.7;2.7;2.7	5.69	5.69	0.88448	BRCT (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	M	0.67953	2.075	0.58432	D	0.999999	B	0.32040	0.353	B	0.34301	0.179	T	0.01639	-1.1306	10	0.29301	T	0.29	.	18.8676	0.92300	0.0:0.0:1.0:0.0	.	649	P49917	DNLI4_HUMAN	F	649	ENSP00000385955:L649F;ENSP00000402030:L649F;ENSP00000349393:L649F	ENSP00000349393:L649F	L	-	1	0	LIG4	107659673	1.000000	0.71417	0.852000	0.33557	0.634000	0.38068	7.533000	0.81994	2.688000	0.91661	0.539000	0.68188	CTT		0.363	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		A	108861672	G	A	108861672	3	1	466	1	0	0	0	0	1	0	0	0	8783	1000	35	2	794	2	LIG4	13	108861672	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09		108861672	6308206	34	25394											
TM9SF1	10548	genome.wustl.edu	37	14	24659667	24659667	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr14:24659667T>C	ENST00000261789.4	-	5	1704	c.1346A>G	c.(1345-1347)aAc>aGc	p.N449S	TM9SF1_ENST00000528669.1_Missense_Mutation_p.N449S|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000396854.4_Missense_Mutation_p.N449S|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Missense_Mutation_p.N362S|TM9SF1_ENST00000556387.1_Missense_Mutation_p.N658S|TM9SF1_ENST00000530611.1_Missense_Mutation_p.N658S	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	449					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CCGGGCGATGTTCTTGGTGCG	0.552																																																0			14											144	118	127					14																	24659667		2203	4300	6503	23729507	SO:0001583	missense	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1346A>G	14.37:g.24659667T>C	ENSP00000261789:p.Asn449Ser		23729507	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189012	0.78789	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000530611	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	L	0.28649	0.875	0.58432	D	0.999999	B;B	0.32968	0.392;0.078	B;B	0.41174	0.349;0.089	T	0.36768	-0.9734	10	0.56958	D	0.05	-12.7233	12.701	0.57032	0.0:0.0:0.0:1.0	.	449;449	Q86SZ6;O15321	.;TM9S1_HUMAN	S	449;449;658;362;449;658	ENSP00000261789:N449S;ENSP00000432997:N449S;ENSP00000451949:N658S;ENSP00000434387:N362S;ENSP00000380063:N449S;ENSP00000433967:N658S	ENSP00000433967:N658S	N	-	2	0	TM9SF1;RP11-468E2.1	23729507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.761000	0.74945	1.879000	0.54435	0.533000	0.62120	AAC		0.552	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		C	24659667	T	C	24659667	3	2	466	1	0	0	0	0	1	0	0	0	15977	1725	60	4	525	4	TM9SF1	14	24659667	Missense_Mutation	SNP	T	TCGA-61-2614-01A-01W-1092-09		24659667	82689873	35	25395											
CLEC14A	161198	genome.wustl.edu	37	14	38723818	38723818	+	Silent	SNP	A	A	G			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr14:38723818A>G	ENST00000342213.2	-	1	1756	c.1410T>C	c.(1408-1410)gaT>gaC	p.D470D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	470						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTCCCGCAGATCACAGTCCC	0.587																																																0			14											76	78	77					14																	38723818		2203	4300	6503	37793569	SO:0001819	synonymous_variant	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1410T>C	14.37:g.38723818A>G			37793569	Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	CCDS9667.1																																																																																				0.587	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		G	38723818	A	G	38723818	2	3	466	1	0	0	0	0	0	0	0	1	3499	330	12	4		4	CLEC14A	14	38723818	Silent	SNP	A	TCGA-61-2614-01A-01W-1092-09	14064151	38723818	68625722	36	25396											
KCNK10	54207	genome.wustl.edu	37	14	88737121	88737121	+	Intron	SNP	A	A	G			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr14:88737121A>G	ENST00000340700.5	-	2	489				KCNK10_ENST00000312350.5_Missense_Mutation_p.F5L|KCNK10_ENST00000319231.5_Intron	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10						signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						tcccccttaaatccatcctcc	0.517																																																0			14											366	288	314					14																	88737121		2203	4300	6503	87806874	SO:0001627	intron_variant	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.38-7226T>C	14.37:g.88737121A>G			87806874	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	a	16.62	3.173033	0.57584	.	.	ENSG00000100433	ENST00000312350	D	0.90069	-2.61	3.57	-1.71	0.08133	.	.	.	.	.	T	0.72740	0.3498	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60239	-0.7302	9	0.87932	D	0	.	2.3641	0.04315	0.4115:0.0:0.221:0.3674	.	5	Q6B014	.	L	5	ENSP00000310568:F5L	ENSP00000310568:F5L	F	-	1	0	KCNK10	87806874	0.000000	0.05858	0.011000	0.14972	0.704000	0.40688	-0.357000	0.07651	-0.323000	0.08602	0.529000	0.55759	TTT		0.517	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		G	88737121	A	G	88737121	1	3	466	0	1	0	0	0	0	0	0	0	8059	101	4	4		4	KCNK10	14	88737121	Intron	SNP	A	TCGA-61-2614-01A-01W-1092-09	50013303	88737121	18612419	37	25397											
MKRN3	7681	genome.wustl.edu	37	15	23812335	23812335	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr15:23812335G>A	ENST00000314520.3	+	1	1882	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	469					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R469Q(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTCGTGCTTCGGCTGGCCAGT	0.483																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	15											146	133	137					15																	23812335		2203	4300	6503	21363428	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1406G>A	15.37:g.23812335G>A	ENSP00000313881:p.Arg469Gln		21363428		Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	g	2.152	-0.394178	0.04899	.	.	ENSG00000179455	ENST00000314520	T	0.29917	1.55	4.09	-2.57	0.06248	.	0.797649	0.10922	N	0.619355	T	0.13286	0.0322	N	0.12182	0.205	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.18808	-1.0325	10	0.38643	T	0.18	.	4.391	0.11341	0.4995:0.0:0.339:0.1615	.	469	Q13064	MKRN3_HUMAN	Q	469	ENSP00000313881:R469Q	ENSP00000313881:R469Q	R	+	2	0	MKRN3	21363428	1.000000	0.71417	0.000000	0.03702	0.005000	0.04900	1.623000	0.37008	-0.503000	0.06586	-0.970000	0.02610	CGG		0.483	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		A	23812335	G	A	23812335	3	1	466	1	0	0	0	0	1	0	0	0	9608	1116	39	1	1408	1	MKRN3	15	23812335	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09		23812335	78719057	38	25398											
ARNT2	9915	genome.wustl.edu	37	15	80867401	80867401	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr15:80867401C>G	ENST00000303329.4	+	14	1628	c.1463C>G	c.(1462-1464)tCc>tGc	p.S488C	ARNT2_ENST00000533983.1_Missense_Mutation_p.S477C|ARNT2_ENST00000527771.1_Missense_Mutation_p.S477C	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	488					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCAATCTTCTCCCAGGAAAGA	0.473																																																0			15											203	197	199					15																	80867401		2203	4300	6503	78654456	SO:0001583	missense	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1463C>G	15.37:g.80867401C>G	ENSP00000307479:p.Ser488Cys		78654456	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961885	0.74016	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.07216	3.21	5.21	4.28	0.50868	.	0.401484	0.28161	N	0.016380	T	0.21841	0.0526	L	0.54323	1.7	0.58432	D	0.999999	D	0.69078	0.997	P	0.61800	0.894	T	0.00783	-1.1568	10	0.87932	D	0	.	15.1688	0.72854	0.1422:0.8578:0.0:0.0	.	488	Q9HBZ2	ARNT2_HUMAN	C	477;488;488	ENSP00000307479:S488C	ENSP00000307479:S488C	S	+	2	0	ARNT2	78654456	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.035000	0.76517	1.182000	0.42928	-0.188000	0.12872	TCC		0.473	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			G	80867401	C	G	80867401	3	3	466	1	0	0	0	0	1	0	0	0	966	855	30	3	1517	3	ARNT2	15	80867401	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09	57055066	80867401	21663991	39	25399											
BTBD12	84464	genome.wustl.edu	37	16	3656526	3656526	+	Missense_Mutation	SNP	G	G	A	rs199912910	byFrequency	TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr16:3656526G>A	ENST00000294008.3	-	3	1349	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	237	Interaction with SLX4IP, ERCC4 and MSH2.		R -> Q (in dbSNP:rs138615800). {ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTTCTTCCCGCGCAGCCTCG	0.512								Direct reversal of damage					G|||	3	0.000599042	0	0	5008	,	,		19199	0.002		0	False		,,,				2504	0.001															0			16											228	224	225					16																	3656526		2197	4300	6497	3596527	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.709C>T	16.37:g.3656526G>A	ENSP00000294008:p.Arg237Trp		3596527	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	11.34	1.610408	0.28712	.	.	ENSG00000188827	ENST00000294008	T	0.01126	5.3	5.16	-3.39	0.04868	.	2.253860	0.01848	N	0.035730	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.19148	0.024	T	0.44590	-0.9318	10	0.59425	D	0.04	.	2.7089	0.05169	0.214:0.4239:0.2131:0.149	.	237	Q8IY92	SLX4_HUMAN	W	237	ENSP00000294008:R237W	ENSP00000294008:R237W	R	-	1	2	SLX4	3596527	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.870000	0.04228	-0.341000	0.08376	-0.345000	0.07892	CGG		0.512	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		A	3656526	G	A	3656526	3	1	466	1	0	0	0	0	1	0	0	0	1540	1086	38	1	4847	1	BTBD12	16	3656526	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09		3656526	86698227	40	25400											
NFAT5	10725	genome.wustl.edu	37	16	69725884	69725884	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr16:69725884G>A	ENST00000354436.2	+	12	2420	c.2102G>A	c.(2101-2103)aGc>aAc	p.S701N	NFAT5_ENST00000567239.1_Missense_Mutation_p.S718N|NFAT5_ENST00000566899.1_Missense_Mutation_p.S625N|NFAT5_ENST00000432919.1_Missense_Mutation_p.S719N|NFAT5_ENST00000393742.2_Missense_Mutation_p.S625N|NFAT5_ENST00000349945.1_Missense_Mutation_p.S625N	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	701					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCCCAACAGCGATGCACTA	0.458																																																0			16											86	83	84					16																	69725884		2198	4300	6498	68283385	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2102G>A	16.37:g.69725884G>A	ENSP00000346420:p.Ser701Asn		68283385	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760527	0.31137	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.46819	0.87;0.86;0.87;0.86	6.08	4.13	0.48395	.	0.394428	0.31884	N	0.006915	T	0.34803	0.0910	L	0.35414	1.06	0.39719	D	0.971443	B;B;B	0.13145	0.0;0.007;0.005	B;B;B	0.12837	0.001;0.008;0.006	T	0.12863	-1.0531	10	0.30854	T	0.27	-3.0274	10.0249	0.42066	0.2041:0.0:0.7958:0.0	.	718;701;719	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	N	719;718;625;701;625	ENSP00000396538:S719N;ENSP00000338806:S625N;ENSP00000346420:S701N;ENSP00000377343:S625N	ENSP00000338806:S625N	S	+	2	0	NFAT5	68283385	0.999000	0.42202	0.968000	0.41197	0.570000	0.35934	1.871000	0.39539	0.907000	0.36646	0.655000	0.94253	AGC		0.458	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		A	69725884	G	A	69725884	3	1	466	1	0	0	0	0	1	0	0	0	10360	971	34	2	2206	2	NFAT5	16	69725884	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09	66069358	69725884	20628869	41	25401											
KARS	3735	genome.wustl.edu	37	16	75665482	75665482	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr16:75665482C>T	ENST00000302445.3	-	9	1123	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M	KARS_ENST00000319410.5_Missense_Mutation_p.V390M|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	362					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATATGCTTCACCATCCCTGGG	0.527																																																0			16											129	126	127					16																	75665482		2198	4300	6498	74222983	SO:0001583	missense	3735			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1084G>A	16.37:g.75665482C>T	ENSP00000303043:p.Val362Met		74222983	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Splice_Site	SNP	ENST00000302445.3	37	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119898	0.77323	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.80393	-1.37;-1.37	5.91	4.96	0.65561	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.106578	0.64402	D	0.000005	D	0.92309	0.7560	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	0.966;1.0	P;D	0.79108	0.724;0.992	D	0.94215	0.7462	10	0.87932	D	0	-18.7261	13.7865	0.63112	0.0:0.9264:0.0:0.0736	.	390;362	Q15046-2;Q15046	.;SYK_HUMAN	M	390;362	ENSP00000325448:V390M;ENSP00000303043:V362M	ENSP00000303043:V362M	V	-	1	0	KARS	74222983	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	7.818000	0.86416	1.508000	0.48769	0.655000	0.94253	GTG		0.527	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		T	75665482	C	T	75665482	3	4	466	1	0	0	0	0	1	0	0	0	7980	507	18	2	733	2	KARS	16	75665482	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09	5939598	75665482	14689271	42	25402											
TP53	7157	genome.wustl.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000574684.1_5'Flank	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	AGGACAGGCACAAACACGCAC	0.552		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"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	17	GRCh37	CM076568|CM951234	TP53	M							71	61	64					17																	7577114		2203	4300	6503	7517839	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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr		7517839	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	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	0.99883	0.9944	M	0.92738	3.34	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;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577114	C	T	7577114	3	4	466	1	0	0	0	0	1	0	0	0	16381	478	17	2	462	2	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09		7577114	73618096	43	25403											
MAP2K4	6416	genome.wustl.edu	37	17	12016610	12016610	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr17:12016610G>T	ENST00000353533.5	+	7	809	c.746G>T	c.(745-747)gGc>gTc	p.G249V	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.G260V	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TGTGACTTCGGCATCAGTGGA	0.418			"D, Mis, N"		"pancreatic, breast, colorectal"																																		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	17											103	101	102					17																	12016610		2203	4300	6503	11957335	SO:0001583	missense	6416			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.746G>T	17.37:g.12016610G>T	ENSP00000262445:p.Gly249Val		11957335	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474121	0.84640	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	D;D	0.89415	-2.51;-2.51	4.41	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058144	0.64402	D	0.000001	D	0.96632	0.8901	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98223	1.0479	10	0.87932	D	0	.	15.9715	0.80025	0.0:0.0:1.0:0.0	.	121;260;249	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	V	249;260;226;121	ENSP00000262445:G249V;ENSP00000410402:G260V	ENSP00000262445:G249V	G	+	2	0	MAP2K4	11957335	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.657000	0.98554	2.297000	0.77311	0.591000	0.81541	GGC		0.418	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			T	12016610	G	T	12016610	3	4	466	1	0	0	0	0	1	0	0	0	9239	1203	42	3	772	3	MAP2K4	17	12016610	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09	4439496	12016610	69178600	44	25404											
MFSD11	79157	genome.wustl.edu	37	17	74774306	74774306	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr17:74774306T>C	ENST00000588460.1	+	13	3264	c.1222T>C	c.(1222-1224)Tac>Cac	p.Y408H	MFSD11_ENST00000586622.1_Missense_Mutation_p.Y408H|MFSD11_ENST00000355954.3_Missense_Mutation_p.Y356H|MFSD11_ENST00000590514.1_Missense_Mutation_p.Y408H|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000593181.1_Missense_Mutation_p.Y356H|MFSD11_ENST00000336509.4_Missense_Mutation_p.Y408H	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	408						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CTACAGCAACTACCTTCTCCT	0.488																																																0			17											182	166	172					17																	74774306		2203	4300	6503	72285901	SO:0001583	missense	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1222T>C	17.37:g.74774306T>C	ENSP00000464932:p.Tyr408His		72285901	O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000588460.1	37	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940880	0.52972	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.81415	-1.49;-1.49	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.051251	0.85682	D	0.000000	T	0.72716	0.3495	L	0.31752	0.955	0.80722	D	1	P;B	0.41080	0.737;0.11	B;B	0.41088	0.347;0.062	T	0.70081	-0.4970	10	0.15499	T	0.54	-18.0056	16.3021	0.82825	0.0:0.0:0.0:1.0	.	356;408	O43934-2;O43934	.;MFS11_HUMAN	H	408;356	ENSP00000337240:Y408H;ENSP00000348225:Y356H	ENSP00000337240:Y408H	Y	+	1	0	MFSD11	72285901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.174000	0.71943	2.326000	0.78906	0.533000	0.62120	TAC		0.488	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		C	74774306	T	C	74774306	3	2	466	1	0	0	0	0	1	0	0	0	9529	1522	53	4	1272	4	MFSD11	17	74774306	Missense_Mutation	SNP	T	TCGA-61-2614-01A-01W-1092-09	62757696	74774306	6420904	45	25405											
DDA1	79016	genome.wustl.edu	37	19	17425149	17425149	+	Silent	SNP	C	C	T			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr19:17425149C>T	ENST00000359866.4	+	3	211	c.87C>T	c.(85-87)aaC>aaT	p.N29N		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	29										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						TCCTGCAGAACCGACGGCCCT	0.612																																																0			19											112	84	94					19																	17425149		2203	4300	6503	17286149	SO:0001819	synonymous_variant	79016			BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 58"	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.87C>T	19.37:g.17425149C>T			17286149		Silent	SNP	ENST00000359866.4	37	CCDS12357.1																																																																																				0.612	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		T	17425149	C	T	17425149	2	4	466	1	0	0	0	0	0	0	0	1	4320	506	18	2		2	DDA1	19	17425149	Silent	SNP	C	TCGA-61-2614-01A-01W-1092-09		17425149	41703834	46	25406											
CD177	57126	genome.wustl.edu	37	19	43866449	43866449	+	RNA	SNP	G	G	A	rs78718189	byFrequency	TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr19:43866449G>A	ENST00000607109.1	-	0	300				CD177_ENST00000607517.1_RNA|CD177_ENST00000378009.4_RNA																							GCTGTGGTGGGGAGTGGTTTG	0.617													G|||	172	0.034345	0.0053	0.0562	5008	,	,		15230	0		0.1083	False		,,,				2504	0.0174															0			19						G	ARG/GLY	77,3945		2,73,1936	22	23	23		1291	1	0	19	dbSNP_131	23	839,7487		38,763,3362	yes	missense	CD177	NM_020406.2	125	40,836,5298	AA,AG,GG		10.0769,1.9145,7.4182	probably-damaging	431/438	43866449	916,11432	2011	4163	6174	48558289			57126																															19.37:g.43866449G>A			48558289		Missense_Mutation	SNP	ENST00000607109.1	37																																																																																					0.617	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			A	43866449	G	A	43866449	1	1	466	0	1	0	0	0	0	0	0	0	2971	1233	43	2		2	CD177	19	43866449	RNA	SNP	G	TCGA-61-2614-01A-01W-1092-09	26441300	43866449	15262534	47	25407											
LILRA6	79168	genome.wustl.edu	37	19	54742857	54742857	+	Missense_Mutation	SNP	C	C	G	rs372286259		TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr19:54742857C>G	ENST00000396365.2	-	8	1457	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.R456T|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	473					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTGGGGGTTTCTCTGGCTGTG	0.567																																																0			19											89	87	88					19																	54742857		2176	4298	6474	59434669	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1418G>C	19.37:g.54742857C>G	ENSP00000379651:p.Arg473Thr		59434669		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208286	0.39003	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00567	6.62;6.54	2.59	2.59	0.31030	.	6.584470	0.00735	U	0.000962	T	0.01029	0.0034	M	0.78916	2.43	0.22835	N	0.998671	B	0.15141	0.012	B	0.06405	0.002	T	0.54463	-0.8290	10	0.48119	T	0.1	.	8.6675	0.34130	0.0:1.0:0.0:0.0	.	473	Q6PI73	LIRA6_HUMAN	T	473;456	ENSP00000379651:R473T;ENSP00000245621:R456T	ENSP00000245621:R456T	R	-	2	0	LILRA6	59434669	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.389000	0.20751	1.455000	0.47813	0.174000	0.16983	AGA		0.567	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		G	54742857	C	G	54742857	3	3	466	1	0	0	0	0	1	0	0	0	8789	913	32	3	31	3	LILRA6	19	54742857	Missense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09	10876408	54742857	4386126	48	25408											
FIZ1	84922	genome.wustl.edu	37	19	56109104	56109104	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr19:56109104G>A	ENST00000221665.3	-	2	217	c.128C>T	c.(127-129)gCc>gTc	p.A43V	FIZ1_ENST00000592585.1_Missense_Mutation_p.A43V|ZNF524_ENST00000301073.3_5'Flank	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	43					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGTGTGCCGGGCAAAGTGGCG	0.672																																																0			19											50	46	48					19																	56109104		2203	4299	6502	60800916	SO:0001583	missense	84922			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.128C>T	19.37:g.56109104G>A	ENSP00000221665:p.Ala43Val		60800916	A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	G	1.458	-0.563208	0.03939	.	.	ENSG00000179943	ENST00000221665	T	0.19250	2.16	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22003	0.0530	N	0.12182	0.205	0.09310	N	1	D	0.53619	0.961	P	0.57620	0.824	T	0.07731	-1.0757	9	0.54805	T	0.06	-17.8725	9.9577	0.41678	0.0:0.0:0.7965:0.2035	.	43	Q96SL8	FIZ1_HUMAN	V	43	ENSP00000221665:A43V	ENSP00000221665:A43V	A	-	2	0	FIZ1	60800916	0.000000	0.05858	0.988000	0.46212	0.756000	0.42949	0.243000	0.18106	2.017000	0.59298	0.462000	0.41574	GCC		0.672	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		A	56109104	G	A	56109104	3	1	466	1	0	0	0	0	1	0	0	0	5900	1203	42	2	1370	2	FIZ1	19	56109104	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09	1366247	56109104	3019879	49	25409											
TP53TG5	27296	genome.wustl.edu	37	20	44006229	44006229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr20:44006229C>A	ENST00000372726.3	-	2	229	c.73G>T	c.(73-75)Gag>Tag	p.E25*	TP53TG5_ENST00000537995.1_Nonsense_Mutation_p.E9*|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	25					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCTCTGTCTCGTCCCGCAGT	0.527																																																0			20											80	67	71					20																	44006229		2203	4300	6503	43439643	SO:0001587	stop_gained	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.73G>T	20.37:g.44006229C>A	ENSP00000361811:p.Glu25*		43439643		Nonsense_Mutation	SNP	ENST00000372726.3	37	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478908	0.44044	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	.	.	.	4.18	3.08	0.35506	.	0.286994	0.29752	N	0.011292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4382	6.4046	0.21658	0.0:0.1098:0.0:0.8902	.	.	.	.	X	25;9	.	ENSP00000361811:E25X	E	-	1	0	TP53TG5	43439643	0.579000	0.26725	0.985000	0.45067	0.033000	0.12548	1.019000	0.30014	0.967000	0.38186	-0.238000	0.12139	GAG		0.527	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		A	44006229	C	A	44006229	4	1	466	1	0	0	0	0	0	1	0	0	16391	893	31	3	815	3	TP53TG5	20	44006229	Nonsense_Mutation	SNP	C	TCGA-61-2614-01A-01W-1092-09		44006229	19019291	50	25410											
SLC12A5	57468	genome.wustl.edu	37	20	44663619	44663619	+	Missense_Mutation	SNP	A	A	C			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr20:44663619A>C	ENST00000454036.2	+	2	203	c.154A>C	c.(154-156)Atc>Ctc	p.I52L	SLC12A5_ENST00000372315.1_Missense_Mutation_p.I29L|SLC12A5_ENST00000243964.3_Missense_Mutation_p.I29L|SLC12A5_ENST00000608944.1_5'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	52					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGTCCCTTCATCAACAGCAC	0.542																																																0			20											254	184	208					20																	44663619		2203	4300	6503	44097026	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.154A>C	20.37:g.44663619A>C	ENSP00000387694:p.Ile52Leu		44097026	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890595	0.33348	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;T;T;T	0.83591	-1.74;1.91;1.91;1.91	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	L	0.35542	1.07	0.58432	D	0.999999	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.15052	0.008;0.012;0.008	T	0.67055	-0.5767	10	0.12430	T	0.62	.	13.7397	0.62840	1.0:0.0:0.0:0.0	.	52;29;29	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	L	52;29;29;29	ENSP00000387694:I52L;ENSP00000361389:I29L;ENSP00000446091:I29L;ENSP00000243964:I29L	ENSP00000243964:I29L	I	+	1	0	SLC12A5	44097026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.188000	0.50958	2.164000	0.68074	0.533000	0.62120	ATC		0.542	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			C	44663619	A	C	44663619	3	2	466	1	0	0	0	0	1	0	0	0	14389	217	8	5	216	5	SLC12A5	20	44663619	Missense_Mutation	SNP	A	TCGA-61-2614-01A-01W-1092-09	657390	44663619	18361901	51	25411											
LCA5L	150082	genome.wustl.edu	37	21	40777845	40777845	+	Missense_Mutation	SNP	G	G	A	rs201718230		TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr21:40777845G>A	ENST00000358268.2	-	10	2504	c.1976C>T	c.(1975-1977)tCg>tTg	p.S659L	WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.S659L|LCA5L_ENST00000380671.2_Missense_Mutation_p.S659L|LCA5L_ENST00000495240.1_5'Flank			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	659										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TGTAGGTGACGATGGCTTAAT	0.393													G|||	1	0.000199681	0	0	5008	,	,		17383	0.001		0	False		,,,				2504	0															0			21											62	65	64					21																	40777845		2203	4300	6503	39699715	SO:0001583	missense	150082			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1976C>T	21.37:g.40777845G>A	ENSP00000351008:p.Ser659Leu		39699715	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	13.73|13.73	2.324790|2.324790	0.41197|0.41197	.|.	.|.	ENSG00000182093|ENSG00000157578	ENST00000415847|ENST00000288350;ENST00000380671;ENST00000358268	.|T;T;T	.|0.60920	.|0.15;0.15;0.15	4.98|4.98	4.04|4.04	0.47022|0.47022	.|.	.|0.429770	.|0.19820	.|N	.|0.105337	T|T	0.54902|0.54902	0.1887|0.1887	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|D	.|0.63880	.|0.993	.|P	.|0.45829	.|0.494	T|T	0.54899|0.54899	-0.8224|-0.8224	6|10	0.87932|0.62326	D|D	0|0.03	-0.9416|-0.9416	11.2026|11.2026	0.48749|0.48749	0.0:0.0:0.8174:0.1826|0.0:0.0:0.8174:0.1826	.|.	.|659	.|O95447	.|LCA5L_HUMAN	N|L	22|659	.|ENSP00000288350:S659L;ENSP00000370046:S659L;ENSP00000351008:S659L	ENSP00000410228:D22N|ENSP00000288350:S659L	D|S	+|-	1|2	0|0	WRB|LCA5L	39699715|39699715	0.960000|0.960000	0.32886|0.32886	0.102000|0.102000	0.21198|0.21198	0.771000|0.771000	0.43674|0.43674	3.045000|3.045000	0.49838|0.49838	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	GAT|TCG		0.393	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505		A	40777845	G	A	40777845	3	1	466	1	0	0	0	0	1	0	0	0	8657	1059	37	1	40	1	LCA5L	21	40777845	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09		40777845	7352050	52	25412											
EIF3L	51386	genome.wustl.edu	37	22	38271924	38271924	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chr22:38271924G>A	ENST00000412331.2	+	10	1565	c.983G>A	c.(982-984)cGt>cAt	p.R328H	EIF3L_ENST00000381683.6_Missense_Mutation_p.R280H|EIF3L_ENST00000406934.1_Missense_Mutation_p.R230H	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGATGCGTCGTTACCAGGAT	0.483																																																0			22											198	177	184					22																	38271924		2203	4300	6503	36601870	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.983G>A	22.37:g.38271924G>A	ENSP00000416892:p.Arg328His		36601870		Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150497	0.94645	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.61040	0.14;0.14;0.14	4.75	4.75	0.60458	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.976;0.97;0.991;0.995	D	0.87118	0.2189	10	0.87932	D	0	-9.8273	18.1352	0.89617	0.0:0.0:1.0:0.0	.	280;230;328;371	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	H	328;371;280;295;230	ENSP00000416892:R328H;ENSP00000371099:R280H;ENSP00000384634:R230H	ENSP00000262832:R295H	R	+	2	0	EIF3L	36601870	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	9.757000	0.98924	2.345000	0.79718	0.462000	0.41574	CGT		0.483	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		A	38271924	G	A	38271924	3	1	466	1	0	0	0	0	1	0	0	0	5022	1145	40	1	1021	1	EIF3L	22	38271924	Missense_Mutation	SNP	G	TCGA-61-2614-01A-01W-1092-09		38271924	13032642	53	25413											
SLC6A14	11254	genome.wustl.edu	37	X	115588885	115588885	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2614-01A-01W-1092-09	TCGA-61-2614-10A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ec119114-e654-480b-a6ef-282992d76708	d95e281c-8521-42b7-922a-067244a4fcce	g.chrX:115588885T>G	ENST00000371900.4	+	13	1813	c.1725T>G	c.(1723-1725)atT>atG	p.I575M	SLC6A14_ENST00000463626.1_Intron	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	575					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCTGCATTATTTGGATTCCAA	0.348																																																0			X											198	183	188					X																	115588885		2203	4300	6503	115502913	SO:0001583	missense	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1725T>G	X.37:g.115588885T>G	ENSP00000360967:p.Ile575Met		115502913	Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.982210	0.34942	.	.	ENSG00000087916	ENST00000371900	T	0.75938	-0.98	4.8	-4.61	0.03380	.	0.231305	0.42682	D	0.000680	T	0.59676	0.2211	L	0.45422	1.42	0.31412	N	0.675341	B	0.21147	0.052	B	0.26517	0.07	T	0.50516	-0.8819	10	0.48119	T	0.1	.	8.1458	0.31110	0.1518:0.6212:0.0:0.2271	.	575	Q9UN76	S6A14_HUMAN	M	575	ENSP00000360967:I575M	ENSP00000360967:I575M	I	+	3	3	SLC6A14	115502913	0.989000	0.36119	0.990000	0.47175	0.977000	0.68977	0.170000	0.16663	-0.498000	0.06632	0.437000	0.28790	ATT		0.348	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			G	115588885	T	G	115588885	3	3	466	1	0	0	0	0	1	0	0	0	14680	1829	64	5	1775	5	SLC6A14	23	115588885	Missense_Mutation	SNP	T	TCGA-61-2614-01A-01W-1092-09		115588885	39681675	54	25414											
